Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene 1000G_ALL 1000G_AFR 1000G_AMR 1000G_EAS 1000G_EUR 1000G_SAS ExAC_Freq ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS ESP6500si_ALL ESP6500si_AA ESP6500si_EA CG46 NCI60 dbSNP COSMIC_ID COSMIC_DIS ClinVar_SIG ClinVar_DIS ClinVar_ID ClinVar_DB ClinVar_DBID GWAS_DIS GWAS_OR GWAS_BETA GWAS_PUBMED GWAS_SNP GWAS_P SIFT_score SIFT_converted_rankscore SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_rankscore Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_rankscore Polyphen2_HVAR_pred LRT_score LRT_converted_rankscore LRT_pred MutationTaster_score MutationTaster_converted_rankscore MutationTaster_pred MutationAssessor_score MutationAssessor_score_rankscore MutationAssessor_pred FATHMM_score FATHMM_converted_rankscore FATHMM_pred PROVEAN_score PROVEAN_converted_rankscore PROVEAN_pred VEST3_score VEST3_rankscore MetaSVM_score MetaSVM_rankscore MetaSVM_pred MetaLR_score MetaLR_rankscore MetaLR_pred M-CAP_score M-CAP_rankscore M-CAP_pred CADD_raw CADD_raw_rankscore CADD_phred DANN_score DANN_rankscore fathmm-MKL_coding_score fathmm-MKL_coding_rankscore fathmm-MKL_coding_pred Eigen_coding_or_noncoding Eigen-raw Eigen-PC-raw GenoCanyon_score GenoCanyon_score_rankscore integrated_fitCons_score integrated_fitCons_score_rankscore integrated_confidence_value GERP++_RS GERP++_RS_rankscore phyloP100way_vertebrate phyloP100way_vertebrate_rankscore phyloP20way_mammalian phyloP20way_mammalian_rankscore phastCons100way_vertebrate phastCons100way_vertebrate_rankscore phastCons20way_mammalian phastCons20way_mammalian_rankscore SiPhy_29way_logOdds SiPhy_29way_logOdds_rankscore Interpro_domain GTEx_V6_gene GTEx_V6_tissue gnomAD_exome_ALL gnomAD_exome_AFR gnomAD_exome_AMR gnomAD_exome_ASJ gnomAD_exome_EAS gnomAD_exome_FIN gnomAD_exome_NFE gnomAD_exome_OTH gnomAD_exome_SAS gnomAD_genome_ALL gnomAD_genome_AFR gnomAD_genome_AMR gnomAD_genome_ASJ gnomAD_genome_EAS gnomAD_genome_FIN gnomAD_genome_NFE gnomAD_genome_OTH Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo 1 881627 881627 G A exonic NOC2L synonymous SNV NOC2L:NM_015658:exon16:c.C1843T:p.L615L 0.44 0.064 0.44 0.62 0.63 0.57 0.5653 0.1397 0.4840 0.6560 0.6221 0.6283 0.5737 0.5648 0.47 0.16 0.64 0.42 0.52 rs2272757 COSM1344685 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5703 0.1305 0.4852 0.5441 0.6577 0.6262 0.6355 0.5652 0.5650 0.4889 0.1429 0.4844 0.5265 0.6751 0.6175 0.6336 0.5855 hom 2284.93 67 1 881627 . G A 2284.93 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6594;MQ=59.10;MQ0=0;QD=34.10;VQSLOD=9.2260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2318,184,0 1 881918 881918 G A exonic NOC2L nonsynonymous SNV NOC2L:NM_015658:exon15:c.C1667T:p.S556L 0.029 0.0038 0.026 . 0.057 0.069 0.0470 0.0114 0.0212 0.0002 0.0264 0.0609 0.0403 0.0657 0.046 0.015 0.062 0.011 0.057 rs35471880 . . . . . . . . . . . . . 0.036 0.433 D 0.484 0.434 P 0.183 0.343 B 0.000 0.449 D 0.999 0.463 D 2.87 0.836 M 0.92 0.445 T -3.63 0.697 D 0.091 0.196 -1.137 0.015 T 0.012 0.047 T . . . 4.347 0.582 24.1 0.995 0.667 0.974 0.743 D c -0.052 0.005 1.000 0.500 0.672 0.522 0 4.09 0.469 6.418 0.731 0.062 0.168 1.000 0.715 0.901 0.381 12.671 0.561 Armadillo-type fold . . 0.0455 0.0096 0.0207 0.0365 0.0001 0.0301 0.0631 0.0471 0.0663 0.0419 0.0131 0.0191 0.0298 0 0.0321 0.0665 0.0509 het 861.50 83 1 881918 . G A 861.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.048;DP=83;Dels=0.00;FS=1.848;HRun=1;HaplotypeScore=0.7887;MQ=58.53;MQ0=0;MQRankSum=0.265;QD=10.38;ReadPosRankSum=-0.749;VQSLOD=5.7609;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,33:83:99:891,0,1300 1 887801 887801 A G exonic NOC2L synonymous SNV NOC2L:NM_015658:exon10:c.T1182C:p.T394T 0.92 0.91 0.92 0.92 0.95 0.92 0.9355 0.9094 0.9558 0.9127 0.9599 0.9406 0.9521 0.9184 0.93 0.91 0.94 0.91 0.87 rs3828047 COSM426785 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9378 0.9077 0.9545 0.9346 0.9111 0.9603 0.9417 0.9395 0.9198 0.9350 0.9086 0.9487 0.9238 0.9097 0.9598 0.9459 0.9479 hom 1723.16 53 1 887801 . A G 1723.16 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8154;MQ=57.26;MQ0=0;QD=32.51;VQSLOD=6.9285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1756,138,0 1 888639 888639 T C exonic NOC2L synonymous SNV NOC2L:NM_015658:exon9:c.A918G:p.E306E 0.92 0.91 0.92 0.92 0.95 0.92 0.9356 0.9096 0.9558 0.9124 0.9601 0.9407 0.9511 0.9184 0.93 0.91 0.94 0.91 0.87 rs3748596 COSM4144218 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9379 0.9078 0.9546 0.9346 0.9110 0.9605 0.9418 0.9397 0.9197 0.9348 0.9086 0.9487 0.9238 0.9100 0.9599 0.9456 0.9481 hom 1861.39 59 1 888639 . T C 1861.39 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.83;MQ0=0;QD=31.55;VQSLOD=7.5017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1894,150,0 1 888659 888659 T C exonic NOC2L nonsynonymous SNV NOC2L:NM_015658:exon9:c.A898G:p.I300V 0.92 0.91 0.92 0.92 0.95 0.92 0.9355 0.9096 0.9557 0.9126 0.9600 0.9407 0.9509 0.9183 0.93 0.91 0.94 0.91 0.87 rs3748597 COSM4144219 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.070 0.216 N 1 0.090 P -1.56 0.005 N -0.39 0.692 T 0.76 0.020 N 0.031 0.089 -0.957 0.397 T 0.000 0.000 T . . . -1.330 0.021 0.004 0.237 0.010 0.042 0.096 N c -1.383 -1.178 0.029 0.139 0.672 0.522 0 4.28 0.500 0.037 0.136 0.016 0.142 0.009 0.180 0.143 0.203 7.695 0.276 Armadillo-type fold ENSG00000188976.6|ENSG00000187583.6|ENSG00000187961.9|ENSG00000188976.6|ENSG00000187583.6|ENSG00000188976.6|ENSG00000188976.6|ENSG00000187961.9|ENSG00000188976.6|ENSG00000188976.6|ENSG00000187583.6 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Lung|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.9378 0.9079 0.9546 0.9347 0.9110 0.9604 0.9417 0.9396 0.9197 0.9348 0.9086 0.9487 0.9238 0.9100 0.9599 0.9455 0.9480 hom 1257.45 39 1 888659 . T C 1257.45 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.53;MQ0=0;QD=32.24;VQSLOD=8.1358;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1290,105,0 1 897325 897325 G C exonic KLHL17 synonymous SNV KLHL17:NM_198317:exon4:c.G609C:p.A203A 0.86 0.7 0.88 0.92 0.94 0.92 0.9077 0.7210 0.9401 0.9079 0.9345 0.9261 0.9283 0.9161 0.86 0.73 0.93 0.77 0.85 rs4970441 COSM3997700 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9130 0.7136 0.9368 0.9157 0.9060 0.9370 0.9282 0.9124 0.9168 0.8705 0.7170 0.9260 0.9040 0.9035 0.9382 0.9325 0.9325 hom 4465.20 148 1 897325 . G C 4465.20 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4583;MQ=59.34;MQ0=0;QD=30.17;VQSLOD=7.0370;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,146:148:99:4430,340,0 1 909238 909238 G C exonic PLEKHN1 nonsynonymous SNV PLEKHN1:NM_001160184:exon13:c.G1355C:p.R452P,PLEKHN1:NM_032129:exon14:c.G1460C:p.R487P 0.78 0.82 0.69 0.89 0.62 0.83 0.6685 0.7890 0.6912 0.8778 0.5664 0.5916 0.6964 0.8120 0.65 0.78 0.58 0.84 0.45 rs3829740 COSM3751449;COSM3751448 1(large_intestine) . . . . . . . . . . . 0.195 0.244 T 0.0 0.026 B 0.0 0.013 B 0.414 0.130 N 1 0.090 P -1.32 0.007 N 0.99 0.418 T 1.54 0.007 N 0.035 0.088 -1.043 0.165 T 0.000 0.000 T . . . 1.098 0.200 11.20 0.505 0.043 0.001 0.005 N c -1.283 -1.227 0.009 0.118 0.646 0.450 0 2.45 0.288 -0.431 0.070 -0.400 0.062 0.000 0.063 0.008 0.104 2.650 0.047 . ENSG00000169962.4|ENSG00000187642.5 Testis|Testis 0.6685 0.7893 0.6978 0.6988 0.8786 0.5648 0.5857 0.6773 0.8111 0.6498 0.7752 0.6909 0.6689 0.8670 0.5611 0.5739 0.6066 het 1019.26 66 1 909238 . G C 1019.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.146;DP=66;Dels=0.00;FS=0.949;HRun=1;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=0.201;QD=15.44;ReadPosRankSum=-0.590;VQSLOD=6.1256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,38:66:99:1049,0,717 1 949654 949654 A G exonic ISG15 synonymous SNV ISG15:NM_005101:exon2:c.A294G:p.V98V 0.83 0.51 0.92 0.93 0.95 0.96 0.9122 0.5636 0.9528 0.9254 0.9472 0.9446 0.9202 0.9501 0.82 0.57 0.95 0.69 0.83 rs8997 COSM3773520 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9197 0.5601 0.9467 0.8977 0.9256 0.9504 0.9477 0.9193 0.9492 0.8403 0.5650 0.9308 0.9139 0.9216 0.9519 0.9528 0.9357 hom 2541.96 76 1 949654 . A G 2541.96 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3692;MQ=59.39;MQ0=0;QD=33.45;VQSLOD=9.1752;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2575,208,0 1 978762 978762 G A exonic AGRN nonsynonymous SNV AGRN:NM_198576:exon8:c.G1528A:p.G510S 0.003 0.0015 0.0043 . 0.0099 . 0.0083 0.0027 0.0043 0 0.0110 0.0123 0.0076 0.0019 0.0092 0.0025 0.013 . . rs138288952 COSM5353209 4(large_intestine) Benign not_specified RCV000244472.2 MedGen CN169374 . . . . . . 0.236 0.179 T 0.991 0.622 D 0.949 0.670 D 0.000 0.629 D 1.000 0.492 D 0.325 0.104 N 3.85 0.037 T -2.72 0.579 D 0.185 0.226 -0.773 0.567 T 0.014 0.056 T . . . 4.544 0.608 24.3 0.997 0.839 0.968 0.710 D c 0.188 0.171 1.000 0.473 0.732 0.924 0 4.76 0.600 3.607 0.536 1.045 0.669 1.000 0.715 0.163 0.208 17.782 0.884 Kazal domain . . 0.0076 0.0015 0.0054 0.0085 0 0.0084 0.0117 0.0098 0.0018 0.0100 0.0021 0.0072 0.0132 0 0.0092 0.0160 0.0081 het 224.89 20 1 978762 . G A 224.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.821;DP=20;Dels=0.00;FS=2.392;HRun=0;HaplotypeScore=7.6397;MQ=58.84;MQ0=0;MQRankSum=-0.222;QD=11.24;ReadPosRankSum=1.288;VQSLOD=2.8342;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:10,9:20:99:255,0,244 1 981931 981931 A G exonic AGRN synonymous SNV AGRN:NM_198576:exon18:c.A3066G:p.S1022S 0.8 0.46 0.89 0.96 0.91 0.91 0.8767 0.5130 0.9312 0.9649 0.9266 0.9018 0.8983 0.8890 0.78 0.53 0.91 0.2 0.73 rs2465128 COSM1126908 1(prostate);2(thyroid);2(large_intestine) Benign not_specified RCV000116259.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8872 0.4965 0.9296 0.8882 0.9679 0.9317 0.9055 0.8859 0.8882 0.8061 0.5008 0.9093 0.8841 0.9654 0.9337 0.9223 0.8979 hom 951.32 32 1 981931 . A G 951.32 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=29.73;VQSLOD=8.3029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.24:984,81,0 1 982994 982994 T C exonic AGRN synonymous SNV AGRN:NM_198576:exon21:c.T3558C:p.F1186F 0.84 0.52 0.9 1. 0.92 0.97 0.8989 0.5354 0.9420 0.9995 0.9490 0.9151 0.9256 0.9543 0.79 0.54 0.92 0.72 0.86 rs10267 COSM4144271 1(thyroid) Benign not_specified RCV000116264.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9089 0.5239 0.9387 0.9222 0.9994 0.9533 0.9164 0.9101 0.9525 0.8239 0.5275 0.9248 0.9272 0.9981 0.9599 0.9313 0.9226 hom 4089.18 131 1 982994 . T C 4089.18 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7449;MQ=58.65;MQ0=0;QD=31.22;VQSLOD=7.9157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,130:131:99:4089,319,0 1 1158631 1158631 A G exonic SDF4 synonymous SNV SDF4:NM_016176:exon4:c.T570C:p.D190D,SDF4:NM_016547:exon4:c.T570C:p.D190D 0.95 1. 0.93 1. 0.86 0.96 0.9166 0.9825 0.9568 0.9998 0.8569 0.8864 0.9106 0.9499 0.92 0.98 0.89 0.96 0.79 rs6603781 COSM3750257;COSM3750258 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9139 0.9840 0.9513 0.8566 0.9998 0.8533 0.8881 0.8982 0.9484 0.9219 0.9820 0.9379 0.8278 1 0.8543 0.8957 0.9134 hom 3725.20 124 1 1158631 . A G 3725.20 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5233;MQ=60.00;MQ0=0;QD=30.04;VQSLOD=8.5809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:124:99:3724,322,0 1 1222963 1222963 C T exonic SCNN1D synonymous SNV SCNN1D:NM_001130413:exon10:c.C1386T:p.P462P 0.009 0.0015 0.0072 . 0.02 0.018 0.0140 0.0036 0.0051 0.0002 0.0096 0.0180 0.0187 0.0227 0.014 0.0034 0.019 0.011 0.057 rs74735644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0128 0.0031 0.0054 0.0052 0.0004 0.0107 0.0180 0.0117 0.0186 0.0128 0.0036 0.0084 0.0132 0 0.0089 0.0206 0.0153 het 1374.17 95 1 1222963 . C T 1374.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.531;DP=95;Dels=0.00;FS=3.021;HRun=0;HaplotypeScore=3.8646;MQ=60.00;MQ0=0;MQRankSum=1.578;QD=14.46;ReadPosRankSum=0.595;VQSLOD=4.4969;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,53:95:99:1404,0,1003 1 1249187 1249187 G A exonic INTS11 synonymous SNV INTS11:NM_001256462:exon7:c.C588T:p.F196F,INTS11:NM_001256463:exon7:c.C579T:p.F193F,INTS11:NM_017871:exon9:c.C882T:p.F294F,INTS11:NM_001256460:exon10:c.C795T:p.F265F,INTS11:NM_001256456:exon11:c.C900T:p.F300F 0.31 0.065 0.44 0.019 0.81 0.34 0.5791 0.1560 0.3152 0.0138 0.7382 0.7965 0.6473 0.3875 0.59 0.17 0.8 0.28 0.84 rs12142199 COSM4142284 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5798 0.1459 0.3345 0.8168 0.0142 0.7280 0.7982 0.6567 0.3927 0.5528 0.1626 0.3759 0.7616 0.0179 0.7162 0.7961 0.6884 hom 4417.18 135 1 1249187 . G A 4417.18 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.9937;MQ=59.38;MQ0=0;QD=32.72;VQSLOD=9.2520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4417,346,0 1 1254841 1254841 C G exonic INTS11 synonymous SNV INTS11:NM_017871:exon4:c.G264C:p.G88G,INTS11:NM_001256460:exon5:c.G177C:p.G59G,INTS11:NM_001256456:exon6:c.G282C:p.G94G 0.71 0.3 0.85 0.84 0.92 0.83 0.8476 0.3848 0.7911 0.8258 0.8814 0.9295 0.8330 0.8477 0.75 0.4 0.93 0.59 0.85 rs10907179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8528 0.3695 0.7960 0.9208 0.8220 0.8757 0.9316 0.8665 0.8467 0.7582 0.3862 0.7661 0.9 0.8083 0.8683 0.9322 0.8806 hom 4734.14 141 1 1254841 . C G 4734.14 Mask AC=2;AF=1.00;AN=2;DP=141;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.4913;MQ=59.14;MQ0=0;QD=33.58;VQSLOD=8.7662;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4734,373,0 1 1262966 1262966 C T exonic CPTP synonymous SNV CPTP:NM_001029885:exon3:c.C468T:p.R156R 0.76 0.48 0.87 0.83 0.92 0.83 0.8716 0.6069 0.8069 0.8336 0.8795 0.9301 0.8512 0.8483 0.81 0.58 0.93 0.69 0.84 rs307349 COSM3750295 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8649 0.5567 0.8057 0.9213 0.8217 0.8673 0.9304 0.8765 0.8458 0.8070 0.5607 0.7780 0.9007 0.8083 0.8605 0.9318 0.8908 hom 1352.95 41 1 1262966 . C T 1352.95 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.00;VQSLOD=13.7986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:41:99:1386,120,0 1 1269554 1269554 T C exonic TAS1R3 nonsynonymous SNV TAS1R3:NM_152228:exon6:c.T2269C:p.C757R 0.95 0.98 0.98 0.91 0.97 0.92 0.9613 0.9873 0.988 0.9128 0.9366 0.9721 0.9321 0.9239 0.98 0.99 0.97 0.98 0.78 rs307377 COSM4142285 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.048 0.233 N 1 0.090 P -2.125 0.001 N -2.22 0.871 D 4.08 0.001 N 0.026 0.165 -0.948 0.413 T 0.000 0.000 T . . . -2.119 0.007 0.001 0.506 0.043 0.083 0.141 N c -1.491 -1.411 1.000 0.462 0.421 0.056 0 -0.839 0.102 0.360 0.198 -0.332 0.074 0.075 0.220 0.351 0.246 1.084 0.015 GPCR family 3\x2c C-terminal . . 0.9604 0.9883 0.9874 0.9827 0.9124 0.9254 0.9725 0.9547 0.9216 0.9682 0.9884 0.9857 0.9702 0.9210 0.9258 0.9712 0.9561 hom 912.95 26 1 1269554 . T C 912.95 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=35.11;VQSLOD=9.2646;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:78.23:946,78,0 1 1425700 1425700 T C exonic ATAD3B synonymous SNV ATAD3B:NM_001317238:exon12:c.T1263C:p.I421I,ATAD3B:NM_031921:exon14:c.T1401C:p.I467I 0.49 0.85 0.34 0.62 0.099 0.36 0.2546 0.7544 0.3993 0.6331 0.2016 0.0867 0.2287 0.3351 0.3 0.73 0.083 0.53 0.074 rs819980 COSM423664 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2497 0.7648 0.3869 0.0748 0.6298 0.2060 0.0819 0.2011 0.3355 0.3325 0.7473 0.3765 0.0894 0.6072 0.2206 0.0987 0.1959 het 1404.29 144 1 1425700 . T C 1404.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.147;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1669;MQ=58.73;MQ0=0;MQRankSum=0.018;QD=9.75;ReadPosRankSum=-1.253;VQSLOD=5.9270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,60:144:99:1434,0,2525 1 1430985 1430985 C T exonic ATAD3B nonsynonymous SNV ATAD3B:NM_001317238:exon14:c.C1597T:p.R533C,ATAD3B:NM_031921:exon16:c.C1735T:p.R579C 0.079 0.037 0.091 0.13 0.058 0.098 0.0760 0.0344 0.1495 0.1308 0.1019 0.0565 0.0824 0.0893 0.048 0.033 0.056 0.087 0.025 rs139902189 COSM3747531 1(liver) . . . . . . . . . . . 0.016 0.518 D 0.99 0.615 D 0.556 0.476 P 0.732 0.064 U 1 0.090 P 1.15 0.294 L -3.31 0.938 D -2.09 0.476 N 0.095 0.157 -0.688 0.610 T 0.024 0.103 T . . . 4.753 0.637 24.7 0.982 0.387 0.021 0.062 N c -0.734 -0.972 0.002 0.087 0.707 0.730 0 0.203 0.144 -0.688 0.052 -0.410 0.061 0.000 0.063 0.000 0.016 3.358 0.067 . ENSG00000235098.4|ENSG00000272455.1|ENSG00000215915.5|ENSG00000215915.5 Adipose_Subcutaneous|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.0789 0.0352 0.1397 0.0429 0.1284 0.0988 0.0557 0.0758 0.0882 0.0657 0.0363 0.1591 0.0430 0.1252 0.1084 0.0614 0.0686 het 993.69 87 1 1430985 . C T 993.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.170;DP=87;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=3.9004;MQ=59.25;MQ0=0;MQRankSum=0.999;QD=11.42;ReadPosRankSum=-0.004;VQSLOD=4.5955;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,40:87:99:1024,0,1117 1 1479333 1479333 A G exonic SSU72 synonymous SNV SSU72:NM_014188:exon4:c.T399C:p.P133P 0.69 0.91 0.56 0.87 0.31 0.71 0.4601 0.8304 0.5888 0.8837 0.3289 0.2840 0.4447 0.6767 0.47 0.82 0.29 0.67 0.24 rs7533 COSM3747545 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4575 0.8402 0.5854 0.3190 0.8804 0.3310 0.2818 0.4077 0.6726 0.4809 0.8295 0.5477 0.31 0.8821 0.3378 0.2746 0.3697 het 1254.51 102 1 1479333 . A G 1254.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.293;DP=102;Dels=0.00;FS=2.574;HRun=2;HaplotypeScore=3.7255;MQ=58.81;MQ0=0;MQRankSum=0.405;QD=12.30;ReadPosRankSum=-0.385;VQSLOD=5.7718;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,48:102:99:1285,0,1488 1 1551927 1551927 T C exonic MIB2 nonsynonymous SNV MIB2:NM_001170686:exon2:c.T214C:p.F72L,MIB2:NM_001170687:exon2:c.T214C:p.F72L,MIB2:NM_001170688:exon2:c.T214C:p.F72L,MIB2:NM_080875:exon2:c.T214C:p.F72L 0.48 0.54 0.48 0.21 0.71 0.44 0.6228 0.5830 0.3726 0.2442 0.7421 0.7375 0.6557 0.5010 0.67 0.56 0.72 0.54 0.61 rs7418389 COSM4142786 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.212 P -0.55 0.024 N 1.41 0.377 T 0.08 0.085 N 0.026 0.101 -0.931 0.440 T 0.000 0.000 T . . . -1.287 0.022 0.005 0.719 0.095 0.004 0.020 N c -1.498 -1.485 1.000 0.500 0.767 0.994 0 0.364 0.153 -0.394 0.073 -0.010 0.132 0.000 0.063 0.016 0.126 1.104 0.016 Mib-herc2 ENSG00000197530.8|ENSG00000272004.1|ENSG00000227775.3|ENSG00000189339.7|ENSG00000189339.7|ENSG00000215790.2|ENSG00000227775.3|ENSG00000189339.7|ENSG00000272004.1|ENSG00000227775.3|ENSG00000189339.7|ENSG00000272106.1|ENSG00000189339.7|ENSG00000189339.7|ENSG00000189339.7|ENSG00000197530.8|ENSG00000272004.1|ENSG00000189339.7|ENSG00000272004.1|ENSG00000189339.7|ENSG00000189339.7|ENSG00000197530.8|ENSG00000272106.1|ENSG00000272004.1|ENSG00000227775.3|ENSG00000189339.7|ENSG00000197530.8|ENSG00000215790.2|ENSG00000272004.1|ENSG00000227775.3|ENSG00000272106.1|ENSG00000189339.7|ENSG00000197530.8|ENSG00000189339.7|ENSG00000197530.8|ENSG00000228594.1|ENSG00000272106.1|ENSG00000189339.7|ENSG00000272004.1|ENSG00000189339.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5863 0.5317 0.3624 0.7393 0.1890 0.7182 0.7163 0.6393 0.4728 0.6266 0.5437 0.3962 0.7450 0.1912 0.7187 0.7089 0.6584 hom 899.80 35 1 1551927 . T C 899.80 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=58.26;MQ0=0;QD=25.71;VQSLOD=5.6157;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:69.22:933,69,0 1 1558792 1558792 T C exonic MIB2 nonsynonymous SNV MIB2:NM_001170686:exon3:c.T305C:p.M102T,MIB2:NM_001170688:exon3:c.T305C:p.M102T,MIB2:NM_080875:exon3:c.T305C:p.M102T 0.77 0.71 0.87 0.55 0.94 0.86 0.8797 0.7673 0.8125 0.6241 0.9004 0.9411 0.9115 0.8605 0.89 0.77 0.94 0.76 0.6 rs12755088 . . . . . . . . . . . . . 0.065 0.912 T 0.013 0.154 B 0.004 0.093 B 0.135 0.028 U 1 0.090 P 0 0.065 N 1.36 0.344 T 0.21 0.093 N 0.062 0.149 -1.000 0.300 T 0.000 0.000 T . . . -1.067 0.029 0.012 0.724 0.097 0.002 0.011 N c -1.343 -1.415 0.006 0.111 0.706 0.609 0 -2.47 0.060 -0.194 0.095 -1.025 0.021 0.000 0.063 0.002 0.062 4.729 0.123 Mib-herc2 ENSG00000269227.1 Thyroid 0.8679 0.7442 0.8097 0.9773 0.5707 0.8976 0.9381 0.9039 0.8568 0.8553 0.7507 0.8086 0.9868 0.5646 0.8940 0.9356 0.8965 hom 357.42 16 1 1558792 . T C 357.42 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.34;VQSLOD=13.1025;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:33.08:390,33,0 1 1647893 1647893 - TTTCTT exonic CDK11A;CDK11B nonframeshift insertion CDK11B:NM_001291345:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11A:NM_001313896:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11A:NM_001313982:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11B:NM_001787:exon5:c.379_380insAAGAAA:p.E126_R127insKE,CDK11A:NM_024011:exon5:c.379_380insAAGAAA:p.E126_R127insKE,CDK11B:NM_033486:exon5:c.379_380insAAGAAA:p.E126_R127insKE,CDK11A:NM_033529:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11B:NM_033489:exon6:c.277_278insAAGAAA:p.E92_R93insKE . . . . . . 0.4974 0.4974 0.4983 0.4938 0.4982 0.4969 0.4989 0.4998 . . . . . rs199866927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4075 0.3412 0.3731 0.4508 0.2980 0.4651 0.4263 0.3918 0.4194 0.4017 0.4940 0.4719 0.084 0.4988 0.5 0.3090 0.4397 het 1790.86 100 1 1647893 . C CTTTCTT 1790.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.605;DP=100;FS=10.963;HRun=0;HaplotypeScore=620.7623;MQ=52.65;MQ0=0;MQRankSum=-6.299;QD=17.56;ReadPosRankSum=-0.015;set=variant2 GT:AD:DP:GQ:PL 0/1:81,16:100:99:1830,0,3732 1 1686040 1686040 G T exonic NADK nonsynonymous SNV NADK:NM_001198995:exon6:c.C690A:p.N230K,NADK:NM_001198993:exon8:c.C786A:p.N262K,NADK:NM_023018:exon8:c.C786A:p.N262K,NADK:NM_001198994:exon10:c.C1221A:p.N407K 0.25 0.05 0.27 0.28 0.41 0.31 0.3564 0.0973 0.2580 0.2600 0.3780 0.4307 0.3789 0.3291 0.32 0.11 0.42 0.18 0.37 rs4751 COSM424509;COSM3750562;COSM1472949 1(large_intestine) . . . . . . . . . . . 0.109 0.302 T 0.562 0.365 P 0.229 0.365 B 0.000 0.629 D 0.967 0.282 P 1.075 0.273 L 0.93 0.441 T -1.04 0.273 N 0.029 0.101 -0.956 0.399 T 0.000 0.000 T . . . -0.260 0.071 0.815 0.683 0.084 0.381 0.257 N c -1.473 -1.536 0.990 0.318 0.672 0.522 0 -1.93 0.071 -1.130 0.033 -1.814 0.006 0.005 0.169 0.001 0.043 13.146 0.587 NAD kinase/diacylglycerol kinase-like domain ENSG00000231050.1|ENSG00000008130.11|ENSG00000008130.11|ENSG00000178821.8|ENSG00000008130.11|ENSG00000169885.5|ENSG00000008130.11|ENSG00000178821.8|ENSG00000178821.8|ENSG00000231050.1|ENSG00000178821.8|ENSG00000231050.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Esophagus_Mucosa|Heart_Atrial_Appendage|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.3551 0.0907 0.2534 0.4895 0.2654 0.3786 0.4252 0.3985 0.3270 0.3038 0.1020 0.2638 0.4967 0.2516 0.3773 0.4042 0.3671 hom 5146.84 153 1 1686040 . G T 5146.84 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.2100;MQ=59.88;MQ0=0;QD=33.64;VQSLOD=8.4095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5146,397,0 1 1916890 1916890 C T exonic CFAP74 synonymous SNV CFAP74:NM_001304360:exon6:c.G435A:p.L145L 0.44 0.66 0.28 0.43 0.31 0.39 0.3733 0.6239 0.2815 0.4395 0.3922 0.3375 0.3460 0.3930 0.41 0.58 0.33 0.51 0.28 rs3795280 COSM5427269 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3647 0.6246 0.2840 0.3387 0.4326 0.3712 0.3367 0.3429 0.3944 0.4261 0.6137 0.2715 0.3467 0.4386 0.3820 0.3390 0.3809 het 2498.65 202 1 1916890 . C T 2498.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.409;DP=202;Dels=0.00;FS=2.513;HRun=0;HaplotypeScore=2.8715;MQ=59.77;MQ0=0;MQRankSum=-1.208;QD=12.37;ReadPosRankSum=-1.205;VQSLOD=5.3726;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,98:202:99:2529,0,2768 1 1957037 1957037 T C exonic GABRD synonymous SNV GABRD:NM_000815:exon4:c.T330C:p.G110G 0.56 0.75 0.51 0.35 0.68 0.44 0.5934 0.7290 0.4569 0.3148 0.6309 0.6578 0.6473 0.4732 0.68 0.73 0.66 0.53 0.72 rs2229110 COSM424897 2(thyroid) Benign not_specified RCV000254456.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5883 0.7308 0.4730 0.6909 0.3125 0.6383 0.6570 0.6246 0.4739 0.6471 0.7303 0.5012 0.6967 0.3102 0.6380 0.6455 0.6293 hom 5016.54 157 1 1957037 . T C 5016.54 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7050;MQ=59.44;MQ0=0;QD=31.95;VQSLOD=7.7508;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5016,391,0 1 2161153 2161153 G A exonic SKI synonymous SNV SKI:NM_003036:exon1:c.G948A:p.K316K . . . . . . 0.0001 0 0.0010 0 0 0.0001 0 0 0.0002 . 0.0002 . . rs368128582 . . Benign|Likely benign not_specified|Shprintzen-Goldberg_syndrome RCV000196098.2|RCV000231718.2 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C1321551:182212:83092002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0 0.0006 0 0 0 0.0001 0 0 0.0002 0 0.0012 0 0 0 0.0003 0 het 147.17 14 1 2161153 . G A 147.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.194;QD=10.51;ReadPosRankSum=2.517;VQSLOD=9.2967;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:177,0,217 1 2340200 2340200 T C exonic PEX10 synonymous SNV PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T 0.7 0.57 0.77 0.73 0.79 0.7 0.7714 0.6008 0.7699 0.7265 0.8119 0.8116 0.7595 0.7258 0.74 0.6 0.82 0.54 0.74 rs2494598 . . other|Benign not_specified|Zellweger_syndrome RCV000117902.3|RCV000326499.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043459:214100:ORPHA912:88469006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7743 0.5896 0.7707 0.8259 0.7203 0.8077 0.8113 0.7766 0.7253 0.7385 0.5953 0.7721 0.8278 0.7006 0.8083 0.8031 0.7781 hom 1624.59 51 1 2340200 . T C 1624.59 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2778;MQ=59.55;MQ0=0;QD=31.85;VQSLOD=9.0933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1658,138,0 1 2430617 2430617 C T exonic PLCH2 synonymous SNV PLCH2:NM_001303012:exon19:c.C2448T:p.I816I,PLCH2:NM_001303013:exon19:c.C2589T:p.I863I,PLCH2:NM_014638:exon19:c.C2529T:p.I843I 0.37 0.17 0.45 0.48 0.48 0.33 0.4352 0.2208 0.4693 0.5221 0.4063 0.4689 0.4543 0.3643 0.39 0.22 0.47 0.37 . rs2296442 COSM3751044;COSM3751045 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4329 0.2084 0.4550 0.4282 0.5191 0.4022 0.4706 0.4552 0.3548 0.3832 0.2211 0.4678 0.4172 0.5186 0.4012 0.4514 0.4131 het 254.75 33 1 2430617 . C T 254.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.125;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.430;QD=7.72;ReadPosRankSum=0.692;VQSLOD=10.4700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,12:33:99:285,0,540 1 2444414 2444414 G A exonic PANK4 nonsynonymous SNV PANK4:NM_018216:exon13:c.C1664T:p.A555V 0.23 0.014 0.3 0.3 0.39 0.21 0.3141 0.0663 0.2257 0.3693 0.3522 0.3738 0.3457 0.2456 0.27 0.072 0.37 0.21 0.43 rs7535528 COSM3746888 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.086 0.496 T 0.769 0.419 P 0.119 0.306 B 0.364 0.136 N 1 0.090 P 2.18 0.615 M 3.19 0.074 T -2.49 0.561 N 0.034 0.420 -0.867 0.508 T 0.000 0.000 T . . . 3.130 0.436 22.6 0.996 0.735 0.655 0.325 D c -0.119 -0.125 1.000 0.747 0.672 0.522 0 5.59 0.846 3.998 0.565 1.045 0.669 0.610 0.276 0.006 0.095 18.568 0.910 Domain of unknown function DUF89 ENSG00000142606.11|ENSG00000228037.1|ENSG00000142606.11 Lung|Spleen|Whole_Blood 0.3154 0.0612 0.2312 0.3740 0.3638 0.3504 0.3754 0.3433 0.2406 0.2736 0.0717 0.2614 0.3709 0.3758 0.3532 0.3580 0.3078 het 2224.67 160 1 2444414 . G A 2224.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.842;DP=160;Dels=0.00;FS=4.777;HRun=0;HaplotypeScore=5.4332;MQ=59.30;MQ0=0;MQRankSum=0.874;QD=13.90;ReadPosRankSum=-1.720;VQSLOD=4.5545;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,83:160:99:2255,0,1884 1 2452569 2452569 T C exonic PANK4 synonymous SNV PANK4:NM_018216:exon3:c.A417G:p.K139K 0.85 0.91 0.81 0.96 0.73 0.79 0.7806 0.9020 0.8555 0.9625 0.6845 0.7384 0.7655 0.7655 0.8 0.9 0.74 0.87 0.71 rs2985862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7786 0.9047 0.8472 0.7261 0.9652 0.6853 0.7414 0.7681 0.7579 0.7894 0.8982 0.8294 0.7267 0.9636 0.6954 0.7324 0.7229 het 1909.27 145 1 2452569 . T C 1909.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.430;DP=145;Dels=0.00;FS=2.179;HRun=1;HaplotypeScore=0.0000;MQ=59.79;MQ0=1;MQRankSum=1.065;QD=13.17;ReadPosRankSum=-0.094;VQSLOD=6.5538;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,70:145:99:1939,0,1978 1 2488153 2488153 A G exonic TNFRSF14 nonsynonymous SNV TNFRSF14:NM_001297605:exon1:c.A50G:p.K17R,TNFRSF14:NM_003820:exon1:c.A50G:p.K17R 0.61 0.78 0.53 0.54 0.47 0.67 0.5443 0.7367 0.5341 0.5096 0.5385 0.4939 0.5566 0.6529 0.56 0.73 0.47 0.53 0.38 rs4870 COSM4143682;COSM4999217 1(pancreas);1(thyroid) not provided not_specified RCV000122164.1 MedGen CN169374 . . . . . . 0.471 0.176 T 0.61 0.377 P 0.145 0.330 B . . . 1 0.090 P 1.175 0.300 L -2.37 0.885 D -0.59 0.176 N 0.032 0.214 -0.931 0.441 T 0.000 0.000 T . . . -0.182 0.077 1.198 0.932 0.222 0.014 0.046 N c -0.956 -1.130 1.000 0.747 0.442 0.072 0 -1.09 0.093 -1.268 0.029 -0.844 0.029 0.000 0.063 0.000 0.016 7.533 0.267 . ENSG00000157873.13|ENSG00000272449.1|ENSG00000157873.13|ENSG00000228037.1|ENSG00000238164.2|ENSG00000142606.11|ENSG00000157873.13|ENSG00000157870.10|ENSG00000272449.1|ENSG00000142606.11|ENSG00000157873.13|ENSG00000238164.2|ENSG00000142606.11|ENSG00000142606.11 Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Pancreas|Thyroid|Whole_Blood 0.5129 0.7273 0.5109 0.4435 0.4874 0.4882 0.4662 0.4990 0.6332 0.5446 0.7156 0.5143 0.4467 0.4609 0.4842 0.4735 0.5154 het 146.56 16 1 2488153 . A G 146.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.573;QD=9.16;ReadPosRankSum=-2.115;VQSLOD=10.0782;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,6:16:99:177,0,265 1 2526746 2526746 A G exonic MMEL1 nonsynonymous SNV MMEL1:NM_033467:exon16:c.T1553C:p.M518T 0.54 0.73 0.49 0.54 0.33 0.54 0.4142 0.6816 0.4535 0.4994 0.3765 0.3345 0.4195 0.5090 0.45 0.68 0.34 0.52 0.27 rs3748816 COSM3746907 1(liver) . . . . . . . . . . . 0.715 0.040 T 0.0 0.026 B 0.0 0.013 B 0.090 0.024 N 1 0.090 P -1.28 0.007 N -1.51 0.814 D 1.61 0.007 N 0.038 0.018 -1.028 0.211 T 0.000 0.000 T . . . -2.189 0.006 0.001 0.239 0.010 0.016 0.052 N c -2.283 -2.243 0.998 0.361 0.516 0.203 0 -5.48 0.024 -2.273 0.012 -2.928 0.002 0.000 0.063 0.000 0.016 2.161 0.036 Peptidase M13\x2c N-terminal domain ENSG00000142606.11|ENSG00000272449.1|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11|ENSG00000157873.13|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11 Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Liver|Lung|Pancreas|Small_Intestine_Terminal_Ileum|Spleen|Thyroid|Whole_Blood 0.4107 0.6870 0.4542 0.3010 0.5034 0.3776 0.3365 0.3814 0.5073 0.4521 0.6774 0.4522 0.2980 0.4857 0.3833 0.3408 0.3820 het 779.20 62 1 2526746 . A G 779.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.317;DP=62;Dels=0.00;FS=1.044;HRun=0;HaplotypeScore=1.8934;MQ=59.63;MQ0=0;MQRankSum=0.063;QD=12.57;ReadPosRankSum=-0.768;VQSLOD=6.7565;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:809,0,840 1 2535613 2535613 C A exonic MMEL1 synonymous SNV MMEL1:NM_033467:exon10:c.G924T:p.V308V 0.5 0.61 0.45 0.53 0.31 0.53 0.3908 0.5739 0.4242 0.4897 0.3592 0.3183 0.4080 0.4999 0.4 0.57 0.32 0.45 0.16 rs4648562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3863 0.5702 0.4247 0.2974 0.4928 0.3574 0.3168 0.3643 0.4950 0.4040 0.5579 0.4231 0.2914 0.4794 0.3587 0.3206 0.3595 het 749.71 64 1 2535613 . C A 749.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.083;DP=64;Dels=0.00;FS=1.422;HRun=1;HaplotypeScore=4.3874;MQ=59.64;MQ0=0;MQRankSum=1.715;QD=11.71;ReadPosRankSum=-1.083;VQSLOD=4.5776;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,30:64:99:780,0,972 1 2541269 2541269 A G exonic MMEL1 synonymous SNV MMEL1:NM_033467:exon5:c.T294C:p.A98A 0.53 0.7 0.49 0.54 0.33 0.53 0.4114 0.6580 0.4510 0.4963 0.3750 0.3330 0.4188 0.5257 0.44 0.66 0.33 0.51 0.23 rs10797440 COSM3997438;COSM3997439 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4075 0.6633 0.4512 0.3048 0.5033 0.3781 0.3330 0.3824 0.5003 0.4435 0.6524 0.4424 0.3 0.4919 0.3827 0.3378 0.3814 het 1438.58 128 1 2541269 . A G 1438.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.886;DP=128;Dels=0.00;FS=0.718;HRun=1;HaplotypeScore=4.5071;MQ=59.64;MQ0=0;MQRankSum=0.983;QD=11.24;ReadPosRankSum=-0.386;VQSLOD=5.7703;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1469,0,1866 1 2938265 2938265 C T exonic ACTRT2 synonymous SNV ACTRT2:NM_080431:exon1:c.C15T:p.H5H 0.2 0.13 0.24 0.4 0.16 0.11 0.1941 0.1510 0.3204 0.4222 0.1367 0.1753 0.1787 0.1055 0.17 0.14 0.18 0.24 0.17 rs4576609 COSM3997474 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1951 0.1458 0.3036 0.1045 0.4289 0.1444 0.1787 0.1762 0.0981 0.1695 0.1390 0.2854 0.0993 0.4493 0.1411 0.1597 0.1507 het 995.23 79 1 2938265 . C T 995.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.844;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4661;MQ=59.53;MQ0=0;MQRankSum=0.103;QD=12.60;ReadPosRankSum=-0.958;VQSLOD=5.7858;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,42:79:99:1025,0,925 1 2938408 2938410 AGA - exonic ACTRT2 nonframeshift deletion ACTRT2:NM_080431:exon1:c.158_160del:p.K55del 0.11 0.011 0.22 0.19 0.16 0.046 0.1552 0.0360 0.3108 0.2243 0.1315 0.1676 0.1456 0.0454 0.12 0.036 0.17 . . rs4013154 COSM5713020 2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1624 0.0337 0.2952 0.0979 0.2267 0.1404 0.1727 0.1543 0.0460 0.1235 0.0351 0.2745 0.0933 0.2273 0.1357 0.1527 0.1293 het 1707.72 93 1 2938407 . CAGA C 1707.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.003;DP=93;FS=14.114;HRun=0;HaplotypeScore=363.2259;MQ=56.20;MQ0=0;MQRankSum=-1.278;QD=18.36;ReadPosRankSum=0.166;set=variant2 GT:AD:DP:GQ:PL 0/1:51,42:93:99:1747,0,2678 1 2938697 2938697 T G exonic ACTRT2 synonymous SNV ACTRT2:NM_080431:exon1:c.T447G:p.S149S 0.21 0.17 0.24 0.4 0.16 0.098 0.1923 0.1778 0.3208 0.4170 0.1364 0.1740 0.1786 0.0906 0.18 0.17 0.18 0.25 0.18 rs3795262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1957 0.1731 0.3050 0.1038 0.4247 0.1442 0.1788 0.1764 0.0911 0.1763 0.1643 0.2883 0.0993 0.4438 0.1411 0.1596 0.1507 het 1475.26 142 1 2938697 . T G 1475.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.120;DP=142;Dels=0.00;FS=4.136;HRun=1;HaplotypeScore=6.7389;MQ=59.02;MQ0=0;MQRankSum=0.251;QD=10.39;ReadPosRankSum=-3.017;VQSLOD=3.0503;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,60:142:99:1505,0,2410 1 3301721 3301721 C T exonic PRDM16 synonymous SNV PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S 0.34 0.039 0.33 0.62 0.27 0.54 0.3295 0.0802 0.4145 0.5966 0.3095 0.2706 0.3158 0.5226 0.2 0.082 0.27 0.26 0.22 rs2282198 COSM3746938 1(liver);1(thyroid);1(biliary_tract) Benign not_specified RCV000213616.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3332 0.0761 0.4029 0.2102 0.5989 0.3076 0.2715 0.3016 0.5230 0.2446 0.0786 0.3816 0.2649 0.6075 0.2991 0.2782 0.2982 het 2361.94 198 1 3301721 . C T 2361.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.048;DP=198;Dels=0.00;FS=0.546;HRun=0;HaplotypeScore=4.7806;MQ=59.34;MQ0=0;MQRankSum=0.238;QD=11.93;ReadPosRankSum=-0.281;VQSLOD=5.5801;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,86:198:99:2392,0,2971 1 3328358 3328358 T C exonic PRDM16 nonsynonymous SNV PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P 0.95 0.99 0.9 1. 0.84 0.96 0.8897 0.9721 0.9243 0.9998 0.9099 0.8404 0.8873 0.9508 0.88 0.97 0.84 0.91 0.76 rs870124 COSM3751146 1(large_intestine) Benign not_specified RCV000217271.2 MedGen CN169374 . . . . . . 0.651 0.061 T 0.0 0.026 B 0.0 0.013 B 0.005 0.328 N 0.909 0.289 P -1.7 0.004 N 3.38 0.060 T 1.31 0.010 N 0.026 0.009 -0.955 0.401 T 0.000 0.000 T . . . -0.543 0.053 0.172 0.663 0.078 0.059 0.117 N c -0.721 -0.498 0.994 0.336 0.487 0.133 0 5.33 0.756 2.031 0.405 0.058 0.164 0.426 0.261 0.826 0.345 14.274 0.656 . . . 0.8901 0.9726 0.9239 0.8534 0.9997 0.9133 0.8350 0.8740 0.9500 0.9008 0.9696 0.9332 0.86 0.9994 0.9196 0.8459 0.8794 hom 6598.71 212 1 3328358 . T C 6598.71 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4079;MQ=59.64;MQ0=0;QD=31.13;VQSLOD=7.4685;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6598,512,0 1 3389727 3389727 C T exonic ARHGEF16 nonsynonymous SNV ARHGEF16:NM_014448:exon7:c.C1108T:p.H370Y 0.68 0.39 0.76 0.67 0.86 0.86 0.8050 0.4548 0.6769 0.6607 0.9028 0.8731 0.8497 0.8753 0.74 0.47 0.87 0.61 0.82 rs2185639 COSM4143832;COSM4143831 1(thyroid) . . . . . . . . . . . 0.476 0.228 T 0.004 0.147 B 0.012 0.220 B 0.000 0.629 D 0.000 0.588 P 1.935 0.520 L 0.07 0.617 T -2.16 0.547 N 0.255 0.311 -0.940 0.427 T 0.000 0.000 T . . . 1.043 0.194 10.90 0.914 0.201 0.840 0.428 D c -0.426 -0.327 1.000 0.500 0.696 0.567 0 3.43 0.382 1.729 0.375 0.925 0.434 0.681 0.282 0.649 0.298 7.811 0.282 Dbl homology (DH) domain ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10 Brain_Cerebellum|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.8060 0.4437 0.6844 0.8547 0.6503 0.9015 0.8727 0.8344 0.875 0.7351 0.4470 0.7261 0.9073 0.6361 0.9023 0.8638 0.8466 hom 3696.05 126 1 3389727 . C T 3696.05 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9388;MQ=60.00;MQ0=0;QD=29.33;VQSLOD=5.2251;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,124:126:99:3695,310,0 1 3394456 3394456 T C exonic ARHGEF16 synonymous SNV ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S 0.97 0.9 0.99 1. 1. 1. 0.9903 0.9036 0.9943 1 1 0.9986 0.9944 0.9986 0.97 0.91 1. 0.86 0.98 rs4638054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9922 0.9025 0.9946 0.9959 1 1.0000 0.9987 0.9952 0.9987 0.9730 0.9078 0.9964 1 1 1 0.9987 0.9918 hom 2735.21 93 1 3394456 . T C 2735.21 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=29.41;VQSLOD=8.6753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2768,220,0 1 3395039 3395039 G A exonic ARHGEF16 synonymous SNV ARHGEF16:NM_014448:exon12:c.G1677A:p.V559V 0.69 0.39 0.76 0.68 0.86 0.86 0.8037 0.4608 0.6739 0.6602 0.9019 0.8707 0.8517 0.8743 0.73 0.47 0.87 0.6 0.81 rs10797395 COSM4143834;COSM4143833 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8043 0.4465 0.6827 0.8519 0.6490 0.9000 0.8703 0.8325 0.8735 0.7350 0.4494 0.7231 0.9040 0.6321 0.9018 0.8630 0.8432 hom 6409.18 206 1 3395039 . G A 6409.18 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4783;MQ=59.53;MQ0=0;QD=31.11;VQSLOD=8.9549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6408,497,0 1 3428160 3428160 T G exonic MEGF6 synonymous SNV MEGF6:NM_001409:exon9:c.A1068C:p.T356T 0.5 0.75 0.4 0.64 0.29 0.3 0.3713 0.6994 0.4680 0.6653 0.2605 0.2988 0.3200 0.2928 0.42 0.67 0.3 0.62 0.24 rs2820999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3699 0.7082 0.4598 0.2643 0.6705 0.2543 0.3048 0.3357 0.2940 0.4286 0.7051 0.4318 0.2815 0.7076 0.2380 0.2925 0.3149 het 896.33 66 1 3428160 . T G 896.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.176;DP=66;Dels=0.00;FS=2.605;HRun=1;HaplotypeScore=2.6159;MQ=59.88;MQ0=0;MQRankSum=-0.578;QD=13.58;ReadPosRankSum=0.989;VQSLOD=5.8717;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:926,0,935 1 3428608 3428608 G A exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon8:c.C938T:p.A313V 0.26 0.34 0.19 0.4 0.15 0.14 0.1840 0.3202 0.1761 0.4212 0.1373 0.1513 0.1705 0.1355 0.2 0.3 0.15 0.37 0.2 rs11585362 COSM3746942 1(haematopoietic_and_lymphoid_tissue);2(liver) . . . . . . . . . . . 0.035 0.437 D 0.95 0.519 P 0.36 0.414 B 0.000 0.513 D 1 0.090 P 1.955 0.530 M -3.01 0.922 D -2.04 0.468 N 0.074 0.338 -1.110 0.031 T 0.000 0.000 T . . . 2.464 0.357 19.23 0.994 0.639 0.901 0.508 D c -0.310 -0.365 0.093 0.162 0.732 0.924 0 3.71 0.416 5.734 0.680 0.030 0.149 0.979 0.349 0.018 0.130 8.415 0.316 EGF-like calcium-binding domain|EGF-like domain|EGF-like\x2c conserved site|Growth factor receptor cysteine-rich domain;EGF-like domain|Growth factor receptor cysteine-rich domain . . 0.1813 0.3197 0.1750 0.1687 0.4128 0.1463 0.1487 0.1763 0.1378 0.2060 0.3198 0.1790 0.1987 0.4326 0.1356 0.1367 0.1544 het 1665.84 109 1 3428608 . G A 1665.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.690;DP=109;Dels=0.00;FS=3.943;HRun=0;HaplotypeScore=2.5922;MQ=59.10;MQ0=0;MQRankSum=2.449;QD=15.28;ReadPosRankSum=-0.948;VQSLOD=5.0504;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,65:109:99:1696,0,1053 1 3496479 3496479 T C exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon4:c.A391G:p.S131G 0.85 0.87 0.89 0.71 0.92 0.89 0.8831 0.8634 0.8712 0.6875 0.9095 0.9112 0.9132 0.8815 0.9 0.88 0.92 0.85 0.59 rs2794340 COSM1162425 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.014 0.287 N 1 0.090 P 0.655 0.162 N -2.92 0.918 D 1.7 0.006 N 0.023 0.006 -0.951 0.409 T 0.000 0.000 T . . . -0.908 0.036 0.025 0.153 0.004 0.001 0.007 N c -1.158 -1.117 0.021 0.134 0.696 0.567 0 4.35 0.513 0.204 0.170 -0.052 0.122 0.000 0.063 0.011 0.114 8.494 0.321 EGF-like domain . . 0.8849 0.8558 0.8630 0.8930 0.6540 0.9230 0.9103 0.8924 0.8757 0.8917 0.8702 0.8699 0.9437 0.6910 0.9324 0.9160 0.9012 hom 473.69 20 1 3496479 . T C 473.69 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.520;DP=20;Dels=0.00;FS=5.006;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=1.561;QD=23.68;ReadPosRankSum=1.561;VQSLOD=3.2560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,19:20:14.70:506,15,0 1 3511934 3511934 A G exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon3:c.T344C:p.M115T 0.23 0.24 0.19 0.33 0.15 0.21 0.1900 0.2205 0.2274 0.3726 0.1567 0.1532 0.1828 0.2087 0.16 0.19 0.14 0.13 0.16 rs7513275 . . . . . . . . . . . . . 0.532 0.070 T 0.0 0.026 B 0.0 0.013 B 0.702 0.101 N 1.000 0.192 P -0.97 0.012 N -1.75 0.835 D 0.44 0.033 N 0.051 0.032 -1.101 0.040 T 0.000 0.000 T . . . -1.165 0.026 0.008 0.244 0.011 0.145 0.183 N c -1.136 -1.022 0.054 0.150 0.646 0.450 0 -0.333 0.120 0.757 0.259 -0.780 0.033 0.468 0.265 0.021 0.135 2.150 0.035 EMI domain . . 0.1875 0.2139 0.2202 0.1871 0.3711 0.1525 0.1475 0.1743 0.2061 0.1735 0.2134 0.2279 0.1987 0.3897 0.1425 0.1317 0.1582 het 587.91 62 1 3511934 . A G 587.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.029;DP=62;Dels=0.00;FS=4.349;HRun=0;HaplotypeScore=2.7658;MQ=59.02;MQ0=0;MQRankSum=1.366;QD=9.48;ReadPosRankSum=0.955;VQSLOD=5.2348;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,27:62:99:618,0,768 1 3548136 3548136 T C exonic WRAP73 synonymous SNV WRAP73:NM_017818:exon11:c.A1134G:p.A378A 0.91 0.89 0.85 0.99 0.84 0.95 0.8727 0.8771 0.8693 0.9971 0.8891 0.8402 0.8681 0.9303 0.85 0.88 0.84 0.77 0.79 rs2760321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8701 0.8776 0.8709 0.8074 0.9966 0.8802 0.8382 0.8484 0.9268 0.8677 0.8737 0.8556 0.7715 0.9944 0.8812 0.8500 0.8671 het 698.35 66 1 3548136 . T C 698.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.177;DP=66;Dels=0.00;FS=7.734;HRun=0;HaplotypeScore=3.5362;MQ=58.89;MQ0=0;MQRankSum=1.298;QD=10.58;ReadPosRankSum=-1.231;VQSLOD=4.5648;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,28:66:99:728,0,1070 1 3638674 3638674 C T exonic TP73 synonymous SNV TP73:NM_001126240:exon3:c.C372T:p.T124T,TP73:NM_001126241:exon3:c.C372T:p.T124T,TP73:NM_001126242:exon3:c.C372T:p.T124T,TP73:NM_001204189:exon3:c.C372T:p.T124T,TP73:NM_001204190:exon3:c.C372T:p.T124T,TP73:NM_001204191:exon3:c.C372T:p.T124T,TP73:NM_001204192:exon3:c.C306T:p.T102T,TP73:NM_001204184:exon5:c.C519T:p.T173T,TP73:NM_001204185:exon5:c.C519T:p.T173T,TP73:NM_001204186:exon5:c.C519T:p.T173T,TP73:NM_001204187:exon5:c.C519T:p.T173T,TP73:NM_001204188:exon5:c.C519T:p.T173T,TP73:NM_005427:exon5:c.C519T:p.T173T 0.74 0.77 0.72 0.53 0.91 0.73 0.8101 0.7695 0.6204 0.5180 0.8475 0.8972 0.8303 0.7576 0.85 0.77 0.89 0.79 0.91 rs1801174 COSM3997495;COSM3997496 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8051 0.7681 0.6279 0.9287 0.5133 0.8573 0.8973 0.8483 0.7614 0.8295 0.7682 0.6408 0.9338 0.5260 0.8641 0.8957 0.8684 het 2033.73 144 1 3638674 . C T 2033.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.903;DP=144;Dels=0.00;FS=4.538;HRun=0;HaplotypeScore=9.5367;MQ=58.28;MQ0=0;MQRankSum=1.418;QD=14.12;ReadPosRankSum=-0.559;VQSLOD=3.6388;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,74:144:99:2064,0,1582 1 3745924 3745924 G A exonic CEP104 nonsynonymous SNV CEP104:NM_014704:exon15:c.C2057T:p.A686V 0.21 0.08 0.13 0.52 0.056 0.28 0.1428 0.0947 0.2680 0.5181 0.0941 0.0510 0.1272 0.2774 0.06 0.088 0.046 0.17 0.016 rs2275831 . . . . . . . . . . . . . 0.183 0.217 T 0.061 0.217 B 0.019 0.176 B 0.019 0.274 N 0.858 0.284 P 1.81 0.478 L 1.05 0.400 T -1.55 0.375 N 0.082 0.075 -0.916 0.461 T 0.000 0.000 T . . . 2.627 0.377 20.4 0.922 0.210 0.903 0.511 D c -0.282 -0.147 0.033 0.141 0.706 0.609 0 4.39 0.520 2.135 0.415 0.120 0.210 1.000 0.715 0.625 0.293 7.149 0.246 . ENSG00000235169.3 Cells_Transformed_fibroblasts 0.1385 0.0890 0.2351 0.0429 0.5047 0.0832 0.0496 0.1012 0.2678 0.1003 0.0909 0.1945 0.0530 0.5266 0.0894 0.0583 0.0957 het 590.05 61 1 3745924 . G A 590.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.974;DP=61;Dels=0.00;FS=2.321;HRun=0;HaplotypeScore=4.6547;MQ=58.46;MQ0=0;MQRankSum=1.787;QD=9.67;ReadPosRankSum=0.007;VQSLOD=5.1125;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:620,0,866 1 3753136 3753136 A T exonic CEP104 nonsynonymous SNV CEP104:NM_014704:exon10:c.T1240A:p.L414I 0.3 0.06 0.49 0.34 0.43 0.33 0.3698 0.1096 0.4091 0.3225 0.3356 0.4291 0.3491 0.3058 0.33 0.12 0.43 0.26 0.47 rs2275824 COSM3746952 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver) . . . . . . . . . . . 0.166 0.323 T 0.021 0.174 B 0.018 0.173 B 0.863 0.071 N 1 0.090 P 0 0.065 N 2.35 0.162 T -0.02 0.116 N 0.03 0.245 -0.898 0.482 T 0.000 0.000 T . . . 1.122 0.202 11.33 0.919 0.206 0.040 0.094 N c -1.193 -1.215 0.039 0.144 0.732 0.924 0 -3.25 0.047 -0.286 0.084 -0.509 0.051 0.000 0.063 0.004 0.083 2.575 0.045 . ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000130764.5|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000235169.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood|Whole_Blood 0.3750 0.1026 0.4230 0.3396 0.3250 0.3351 0.4350 0.3838 0.3068 0.3190 0.1036 0.4296 0.3311 0.3194 0.3194 0.4328 0.4019 het 2012.37 178 1 3753136 . A T 2012.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.250;DP=178;Dels=0.00;FS=2.004;HRun=0;HaplotypeScore=1.9722;MQ=58.97;MQ0=0;MQRankSum=-0.001;QD=11.31;ReadPosRankSum=-0.254;VQSLOD=5.9230;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,83:178:99:2042,0,2380 1 3755675 3755675 T C exonic CEP104 synonymous SNV CEP104:NM_014704:exon8:c.A744G:p.E248E 0.79 0.92 0.87 0.48 0.94 0.72 0.8584 0.9075 0.7321 0.4837 0.9061 0.9496 0.8733 0.7233 0.94 0.91 0.95 0.83 0.98 rs1891941 COSM5619177 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8565 0.9092 0.7574 0.9561 0.4882 0.9154 0.9499 0.8938 0.7260 0.8998 0.9088 0.8055 0.9470 0.4764 0.9106 0.9416 0.9043 het 2278.97 163 1 3755675 . T C 2278.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.938;DP=163;Dels=0.00;FS=2.268;HRun=0;HaplotypeScore=3.3471;MQ=58.84;MQ0=0;MQRankSum=1.213;QD=13.98;ReadPosRankSum=-0.090;VQSLOD=6.1581;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,79:163:99:2309,0,2185 1 3761479 3761479 C T exonic CEP104 synonymous SNV CEP104:NM_014704:exon6:c.G558A:p.T186T 0.35 0.23 0.49 0.34 0.43 0.33 0.3832 0.2530 0.4161 0.3233 0.3356 0.4297 0.3557 0.3060 0.38 0.26 0.43 0.38 0.46 rs2275822 COSM3997506;COSM3997507 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3857 0.2506 0.4301 0.3396 0.3255 0.3352 0.4358 0.3919 0.3070 0.3630 0.2532 0.4415 0.3311 0.3226 0.3196 0.4341 0.4127 het 1081.43 101 1 3761479 . C T 1081.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=101;Dels=0.00;FS=13.589;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=0.430;QD=10.71;ReadPosRankSum=-0.194;VQSLOD=4.4158;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1111,0,1420 1 3786189 3786189 G A exonic DFFB synonymous SNV DFFB:NM_001282669:exon5:c.G603A:p.T201T,DFFB:NM_001320132:exon5:c.G384A:p.T128T,DFFB:NM_001320136:exon5:c.G339A:p.T113T,DFFB:NM_004402:exon5:c.G531A:p.T177T 0.21 0.14 0.23 0.13 0.35 0.26 0.2939 0.1677 0.1520 0.1384 0.3086 0.3653 0.2860 0.2606 0.31 0.18 0.37 0.22 0.3 rs1141070 COSM4143881 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2892 0.1639 0.1620 0.3153 0.1400 0.2981 0.3709 0.2979 0.2614 0.2856 0.1759 0.1933 0.2748 0.1562 0.3032 0.3622 0.3289 het 1257.72 92 1 3786189 . G A 1257.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.015;DP=92;Dels=0.00;FS=0.798;HRun=0;HaplotypeScore=3.7097;MQ=59.59;MQ0=0;MQRankSum=0.698;QD=13.67;ReadPosRankSum=-0.149;VQSLOD=6.0042;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,44:92:99:1288,0,1235 1 3800242 3800242 A G exonic DFFB synonymous SNV DFFB:NM_001282669:exon7:c.A1026G:p.P342P,DFFB:NM_001320132:exon7:c.A807G:p.P269P,DFFB:NM_001320136:exon7:c.A762G:p.P254P,DFFB:NM_004402:exon7:c.A954G:p.P318P 0.36 0.31 0.33 0.35 0.41 0.39 0.3971 0.3391 0.2580 0.3335 0.3716 0.4409 0.4108 0.3969 0.41 0.34 0.45 0.4 0.43 rs3205087 COSM4143882 1(kidney);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3871 0.3373 0.2544 0.3233 0.3233 0.3647 0.4505 0.3953 0.3977 0.3905 0.3411 0.2959 0.2667 0.3240 0.3698 0.4365 0.4255 het 2262.07 232 1 3800242 . A G 2262.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.416;DP=232;DS;Dels=0.00;FS=1.046;HRun=0;HaplotypeScore=11.5315;MQ=58.73;MQ0=0;MQRankSum=2.244;QD=9.75;ReadPosRankSum=1.413;VQSLOD=3.0018;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,96:232:99:2292,0,3572 1 3807593 3807593 G C exonic C1orf174 nonsynonymous SNV C1orf174:NM_207356:exon3:c.C158G:p.T53R 1. 1. 1. 1. 0.99 1. 0.9941 0.9988 0.9980 0.9999 0.9941 0.9912 0.9978 0.9968 0.99 1. 0.99 1. 0.99 rs4274008 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1 0.090 P -2.08 0.002 N 3.42 0.055 T 4.18 0.000 N 0.071 0.059 -1.001 0.297 T 0.000 0.000 T . . . -0.465 0.058 0.268 0.101 0.001 0.009 0.034 N c -1.378 -1.187 1.000 0.517 0.707 0.730 0 4.36 0.515 0.120 0.154 0.067 0.174 0.440 0.263 0.479 0.267 5.550 0.163 . . . 0.9944 0.9990 0.9973 0.9986 0.9998 0.9951 0.9905 0.9960 0.9976 0.9938 0.9985 0.9976 0.9967 1 0.9937 0.9906 0.9868 hom 6394.95 205 1 3807593 . G C 6394.95 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6109;MQ=59.02;MQ0=0;QD=31.19;VQSLOD=6.9033;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6394,488,0 1 4772717 4772717 G A exonic AJAP1 nonsynonymous SNV AJAP1:NM_001042478:exon2:c.G787A:p.G263R,AJAP1:NM_018836:exon2:c.G787A:p.G263R 0.36 0.17 0.38 0.27 0.64 0.41 0.5284 0.2346 0.2865 0.2568 0.5495 0.6596 0.5527 0.4748 0.52 0.25 0.67 0.46 0.68 rs242056 . . . . . . . . . . . . . 0.261 0.165 T 0.999 0.764 D 0.892 0.615 P 0.004 0.346 N 0.829 0.288 P 1.67 0.430 L 0.9 0.453 T -3.86 0.724 D 0.13 0.149 -1.012 0.263 T 0.000 0.000 T . . . 2.786 0.396 21.3 0.987 0.444 0.832 0.420 D c 0.027 -0.050 1.000 0.441 0.677 0.550 0 4.76 0.600 1.474 0.348 0.994 0.605 0.019 0.194 0.308 0.238 13.265 0.594 AJAP1/PANP\x2c C-terminal . . 0.5238 0.2274 0.3062 0.6046 0.2586 0.5621 0.6676 0.5588 0.4636 0.4902 0.2327 0.3498 0.5861 0.2235 0.5576 0.6538 0.5780 het 2517.43 197 1 4772717 . G A 2517.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.649;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1268;MQ=58.31;MQ0=0;MQRankSum=0.293;QD=12.78;ReadPosRankSum=-0.865;VQSLOD=4.3708;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,100:197:99:2547,0,2435 1 5926507 5926507 T C exonic NPHP4 synonymous SNV NPHP4:NM_001291594:exon22:c.A2034G:p.E678E,NPHP4:NM_001291593:exon23:c.A2031G:p.E677E,NPHP4:NM_015102:exon26:c.A3570G:p.E1190E 0.32 0.16 0.38 0.28 0.41 0.43 0.4604 0.2681 0.4606 0.3327 0.4990 0.4929 0.4565 0.4711 0.35 0.2 0.42 0.28 . rs555164 COSM1126976 1(breast);1(prostate) Benign|Benign|Benign not_specified|Renal_dysplasia_and_retinal_aplasia|Nephronophthisis RCV000081716.5|RCV000266333.1|RCV000324301.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN117960:ORPHA3156:236531005|C0687120:204958008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3935 0.2006 0.3708 0.4706 0.2574 0.4254 0.4226 0.4067 0.4305 0.3592 0.2075 0.3771 0.5099 0.2837 0.4237 0.4333 0.4066 het 161.67 18 1 5926507 . T C 161.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.532;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.133;QD=8.98;ReadPosRankSum=1.022;VQSLOD=11.4778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:192,0,275 1 5937168 5937168 G A exonic NPHP4 synonymous SNV NPHP4:NM_001291594:exon16:c.C1266T:p.R422R,NPHP4:NM_001291593:exon17:c.C1263T:p.R421R,NPHP4:NM_015102:exon20:c.C2802T:p.R934R 0.45 0.29 0.46 0.73 0.42 0.42 0.4751 0.3408 0.5633 0.7722 0.4541 0.4302 0.4315 0.4962 0.35 0.29 0.38 0.46 . rs3747992 COSM426517 1(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Benign|Benign not_specified|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia RCV000081712.5|RCV000288432.1|RCV000343148.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0687120:204958008|CN117960:ORPHA3156:236531005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4289 0.2861 0.5138 0.3719 0.7590 0.3931 0.3854 0.4017 0.4190 0.3757 0.2893 0.4940 0.4007 0.7342 0.3959 0.3744 0.3898 het 324.81 22 1 5937168 . G A 324.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.670;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=-1.883;QD=14.76;ReadPosRankSum=-0.604;VQSLOD=6.1520;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:355,0,247 1 6046264 6046264 G A exonic NPHP4 nonsynonymous SNV NPHP4:NM_015102:exon2:c.C86T:p.T29M 0.038 0.098 0.0086 0.001 0.027 0.029 0.0323 0.0868 0.0114 0.0002 0.0427 0.0310 0.0361 0.0326 0.043 0.078 0.025 0.022 . rs12142270 COSM3751330 1(large_intestine) Benign|Likely benign|Likely benign not_specified|Renal_dysplasia_and_retinal_aplasia|Nephronophthisis RCV000253888.1|RCV000307502.1|RCV000359933.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN117960:ORPHA3156:236531005|C0687120:204958008 . . . . . . 0.01 0.564 D 0.992 0.629 D 0.59 0.486 P 0.104 0.197 N 1 0.090 N 1.32 0.331 L -2.25 0.873 D -0.81 0.223 N 0.161 0.315 -0.953 0.404 T 0.027 0.116 T . . . 2.265 0.333 17.93 0.997 0.811 0.056 0.114 N c -0.163 -0.296 1.000 0.462 0.651 0.465 0 3.77 0.423 0.911 0.280 1.048 0.713 0.009 0.180 0.915 0.391 9.094 0.356 . . . 0.0294 0.0894 0.0099 0.0317 0.0001 0.0443 0.0275 0.0340 0.0321 0.0446 0.0894 0.0167 0.0430 0.0006 0.0470 0.0247 0.0387 het 720.32 52 1 6046264 . G A 720.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.710;DP=52;Dels=0.00;FS=4.076;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=-0.653;QD=13.85;ReadPosRankSum=1.278;VQSLOD=5.8022;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,29:52:99:750,0,613 1 6158562 6158562 A G exonic KCNAB2 synonymous SNV KCNAB2:NM_001199863:exon14:c.A831G:p.S277S,KCNAB2:NM_172130:exon15:c.A990G:p.S330S,KCNAB2:NM_001199860:exon16:c.A1032G:p.S344S,KCNAB2:NM_001199861:exon16:c.A1032G:p.S344S,KCNAB2:NM_001199862:exon16:c.A1176G:p.S392S,KCNAB2:NM_003636:exon16:c.A1032G:p.S344S 0.54 0.64 0.61 0.4 0.61 0.44 0.5750 0.6385 0.6817 0.4055 0.5546 0.6044 0.5343 0.4419 0.61 0.64 0.6 0.63 0.63 rs2229002 COSM3747041;COSM3747040 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5745 0.6397 0.6743 0.4136 0.4049 0.5581 0.6153 0.5765 0.4447 0.6086 0.6488 0.6355 0.3907 0.3810 0.5673 0.6239 0.5859 het 924.45 98 1 6158562 . A G 924.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.619;DP=98;Dels=0.00;FS=1.679;HRun=0;HaplotypeScore=3.5159;MQ=58.52;MQ0=0;MQRankSum=0.181;QD=9.43;ReadPosRankSum=-0.414;VQSLOD=5.8335;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,39:98:99:954,0,1441 1 6184092 6184092 A G exonic CHD5 nonsynonymous SNV CHD5:NM_015557:exon31:c.T4615C:p.S1539P 0.73 0.61 0.6 0.99 0.6 0.83 0.6570 0.6074 0.6040 0.9969 0.7162 0.5919 0.6765 0.7811 0.59 0.6 0.58 0.63 0.57 rs2843493 COSM4144117;COSM4144116 1(thyroid) . . . . . . . . . . . 0.365 0.117 T 0.0 0.026 B 0.0 0.013 B 0.024 0.262 N 1.000 0.090 P 0.345 0.112 N -2.8 0.911 D -0.06 0.079 N 0.013 0.005 -0.976 0.359 T 0.000 0.000 T . . . 2.368 0.346 18.61 0.973 0.329 0.005 0.025 N c -0.930 -0.794 0.053 0.150 0.646 0.450 0 3.35 0.373 0.362 0.199 0.062 0.168 0.161 0.236 0.946 0.421 6.147 0.194 . . . 0.6509 0.6008 0.5903 0.6946 0.9964 0.7045 0.5747 0.6241 0.7752 0.6270 0.5932 0.5754 0.7152 0.9975 0.7002 0.5893 0.6458 hom 1107.11 36 1 6184092 . A G 1107.11 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=30.75;VQSLOD=9.3692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.27:1140,93,0 1 6196869 6196869 A G exonic CHD5 synonymous SNV CHD5:NM_015557:exon16:c.T2493C:p.I831I 0.52 0.34 0.47 0.8 0.39 0.63 0.4835 0.3458 0.5081 0.7965 0.5425 0.4241 0.5155 0.6030 0.39 0.34 0.41 0.43 0.38 rs2250358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4860 0.3394 0.4973 0.5004 0.7918 0.5342 0.4135 0.4629 0.6024 0.4371 0.3428 0.4772 0.5497 0.7983 0.5355 0.4214 0.4990 hom 1914.65 68 1 6196869 . A G 1914.65 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;QD=28.16;VQSLOD=8.0494;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1948,159,0 1 6204161 6204161 G A exonic CHD5 synonymous SNV CHD5:NM_015557:exon12:c.C1857T:p.Y619Y 0.083 0.015 0.21 0.034 0.12 0.096 0.1142 0.0316 0.1675 0.0197 0.1234 0.1296 0.1435 0.1109 0.092 0.033 0.12 0.076 0.066 rs17436816 COSM3751336 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1171 0.0284 0.1616 0.2171 0.0191 0.1170 0.1219 0.1442 0.1133 0.0875 0.0298 0.1663 0.2351 0.0167 0.1176 0.1126 0.1153 het 3976.52 250 1 6204161 . G A 3976.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.371;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8629;MQ=59.48;MQ0=0;MQRankSum=2.252;QD=15.91;ReadPosRankSum=-0.716;VQSLOD=5.4455;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3340,0,3181 1 6209363 6209363 T C exonic CHD5 synonymous SNV CHD5:NM_015557:exon8:c.A1104G:p.V368V 0.52 0.72 0.21 0.65 0.31 0.56 0.4012 0.6645 0.2514 0.6691 0.4357 0.3113 0.3968 0.5383 0.41 0.65 0.29 0.58 0.34 rs12565328 COSM3751337 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3790 0.6667 0.2321 0.3503 0.6619 0.4242 0.2939 0.3314 0.5292 0.4378 0.6593 0.2458 0.3523 0.6740 0.4147 0.3060 0.3872 het 981.27 78 1 6209363 . T C 981.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.624;DP=78;Dels=0.00;FS=1.059;HRun=0;HaplotypeScore=1.8920;MQ=59.70;MQ0=0;MQRankSum=-0.225;QD=12.58;ReadPosRankSum=-0.205;VQSLOD=6.7843;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:1011,0,1129 1 6211183 6211183 G A exonic CHD5 synonymous SNV CHD5:NM_015557:exon7:c.C903T:p.F301F 0.51 0.69 0.21 0.65 0.3 0.53 0.3806 0.6243 0.2336 0.6627 0.4215 0.2984 0.3675 0.4989 0.39 0.61 0.28 0.56 0.34 rs9434711 COSM3751338 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3673 0.6304 0.2236 0.3499 0.6582 0.4214 0.2876 0.3215 0.4946 0.4260 0.6217 0.2375 0.3510 0.6693 0.4145 0.3033 0.3830 het 1409.44 99 1 6211183 . G A 1409.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.257;DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5887;MQ=60.00;MQ0=0;MQRankSum=0.256;QD=14.24;ReadPosRankSum=0.370;VQSLOD=5.6038;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,51:99:99:1439,0,1236 1 6215736 6215736 C G exonic CHD5 synonymous SNV CHD5:NM_015557:exon4:c.G429C:p.L143L 0.15 0.37 0.06 0.0079 0.081 0.13 0.0956 0.3194 0.0390 0.0067 0.0607 0.0791 0.0956 0.1213 0.16 0.32 0.075 0.16 0.11 rs12074369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0868 0.3270 0.0424 0.1000 0.0061 0.0574 0.0758 0.0778 0.1202 0.1342 0.3163 0.0561 0.0795 0.0080 0.0556 0.0697 0.0796 het 924.96 104 1 6215736 . C G 924.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.053;DP=104;Dels=0.00;FS=0.796;HRun=0;HaplotypeScore=0.9992;MQ=59.42;MQ0=0;MQRankSum=1.052;QD=8.89;ReadPosRankSum=-0.707;VQSLOD=5.6722;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,40:104:99:955,0,1884 1 6313938 6313938 C T exonic GPR153 nonsynonymous SNV GPR153:NM_207370:exon3:c.G626A:p.R209H 0.7 0.7 0.79 0.61 0.71 0.7 0.7075 0.7225 0.8217 0.5941 0.7000 0.7036 0.7235 0.6936 . . . 0.63 0.58 rs12735670 COSM3805738 1(breast);22(upper_aerodigestive_tract) . . . . . . . . . . . 0.394 0.107 T 0.012 0.151 B 0.011 0.145 B 0.002 0.369 N 0.411 0.324 P 0.695 0.181 N 0.97 0.425 T -0.35 0.129 N 0.146 0.172 -1.009 0.273 T 0.000 0.000 T . . . 1.052 0.195 10.95 0.937 0.230 0.512 0.286 D c -0.983 -0.894 0.889 0.258 0.660 0.495 0 2.03 0.256 -0.046 0.118 -0.902 0.026 0.653 0.280 0.000 0.016 7.468 0.263 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000158292.6|ENSG00000158292.6 Cells_Transformed_fibroblasts|Spleen 0.7068 0.7154 0.8109 0.7164 0.5942 0.7006 0.6961 0.7146 0.6882 0.7029 0.7154 0.7854 0.7053 0.5565 0.7100 0.7062 0.6871 hom 1192.73 36 1 6313938 . C T 1192.73 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.36;MQ0=0;QD=33.13;VQSLOD=9.0164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1226,102,0 1 6314822 6314822 T C exonic GPR153 synonymous SNV GPR153:NM_207370:exon2:c.A144G:p.T48T 0.73 0.81 0.8 0.62 0.71 0.71 0.7092 0.7926 0.8205 0.5927 0.6900 0.6961 0.7195 0.6999 0.73 0.79 0.7 0.7 0.53 rs11590458 COSM4144138 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7121 0.7897 0.8151 0.7147 0.5978 0.6983 0.6942 0.7169 0.6984 0.7265 0.7927 0.7919 0.7053 0.5644 0.7106 0.7080 0.6930 hom 4410.28 140 1 6314822 . T C 4410.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.866;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3171;MQ=59.17;MQ0=0;MQRankSum=-1.658;QD=31.50;ReadPosRankSum=-0.619;VQSLOD=8.2040;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,139:140:99:4378,347,0 1 6614535 6614535 G A exonic NOL9 nonsynonymous SNV NOL9:NM_024654:exon1:c.C28T:p.R10W 0.72 0.43 0.85 0.79 0.86 0.82 0.8446 0.5262 0.9255 0.7922 0.9116 0.8716 0.8178 0.8249 0.79 0.57 0.89 0.62 0.57 rs4908923 COSM3751365 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.925 0.643 D 0.092 0.203 N 1 0.090 P 1.04 0.263 L 1.96 0.223 T -2.44 0.534 N 0.215 0.291 -1.090 0.055 T 0.000 0.000 T . . . 5.337 0.723 25.8 0.998 0.894 0.006 0.026 N c -0.228 -0.409 1.0 0.983 0.442 0.072 0 2.15 0.265 0.060 0.141 1.048 0.713 0.002 0.151 0.005 0.090 6.737 0.225 . ENSG00000162408.10|ENSG00000162408.10|ENSG00000171680.16 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8459 0.4838 0.9168 0.8481 0.7716 0.9030 0.8689 0.8417 0.8161 0.7655 0.5112 0.8904 0.8510 0.7702 0.9095 0.8670 0.8193 hom 410.80 20 1 6614535 . G A 410.80 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.84;MQ0=0;QD=20.54;VQSLOD=6.1364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:20:39.09:444,39,0 1 6635231 6635231 A G exonic TAS1R1 nonsynonymous SNV TAS1R1:NM_138697:exon3:c.A1039G:p.K347E 0.92 0.72 0.98 1. 1. 1. 0.9769 0.7550 0.9886 1 1 0.9991 0.9863 0.9989 0.92 0.76 1. 0.85 0.97 rs10864628 COSM4144162 1(thyroid) . . . . . . . . . . . 0.986 0.020 T 0.056 0.214 B 0.028 0.201 B 0.834 0.091 N 1 0.090 P -1.4 0.006 N -2.1 0.862 D -0.13 0.090 N 0.285 0.344 -0.971 0.370 T 0.000 0.000 T . . . -1.767 0.011 0.002 0.335 0.020 0.006 0.026 N c -1.379 -1.350 0.635 0.220 0.554 0.283 0 -0.461 0.115 -0.130 0.104 -0.281 0.084 0.000 0.063 0.000 0.016 6.901 0.233 Periplasmic binding protein-like I|Receptor\x2c ligand binding region . . 0.9811 0.7492 0.9877 0.9990 1 1 0.9991 0.9882 0.9990 0.9312 0.7590 0.9905 1 1 1 0.9995 0.9878 hom 1878.02 56 1 6635231 . A G 1878.02 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=33.54;VQSLOD=9.6260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1911,150,0 1 6659505 6659505 G A exonic KLHL21 synonymous SNV KLHL21:NM_001324309:exon2:c.C1029T:p.S343S,KLHL21:NM_014851:exon2:c.C1029T:p.S343S 0.35 0.27 0.31 0.38 0.32 0.48 0.3456 0.2716 0.2667 0.4095 0.2836 0.3385 0.3747 0.4686 0.31 0.27 0.34 0.41 0.31 rs2232460 COSM426608 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3364 0.2657 0.2612 0.3754 0.4032 0.2765 0.3343 0.3421 0.4504 0.3110 0.2563 0.2644 0.3609 0.4064 0.2692 0.3437 0.3119 hom 1146.02 36 1 6659505 . G A 1146.02 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.36;MQ0=0;QD=31.83;VQSLOD=9.0316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.28:1179,93,0 1 6693097 6693097 A G exonic THAP3 nonsynonymous SNV THAP3:NM_001195752:exon5:c.A677G:p.Q226R,THAP3:NM_001195753:exon6:c.A680G:p.Q227R 0.37 0.31 0.34 0.39 0.33 0.49 0.3911 0.3605 0.3266 0.4572 0.3063 0.3782 0.3925 0.4864 0.33 0.31 0.34 0.4 . rs3174820 COSM4417829 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.868 0.026 T 0.0 0.026 B 0.0 0.013 B 0.000 0.003 N 1 0.090 P 0 0.065 N -3.4 0.943 D 0.23 0.046 N 0.022 0.005 -0.934 0.436 T 0.000 0.000 T . . . -2.999 0.001 0.001 0.403 0.028 0.012 0.042 N c -2.020 -2.090 1.000 0.747 0.672 0.522 0 -7.5 0.012 -2.196 0.013 -0.552 0.047 0.000 0.063 0.008 0.104 1.286 0.019 . ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11 Adrenal_Gland|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis 0.3511 0.3137 0.2783 0.3974 0.4098 0.2766 0.3463 0.3588 0.4682 0.3339 0.3126 0.2883 0.3808 0.4151 0.2738 0.3540 0.3194 het 317.03 28 1 6693097 . A G 317.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.091;DP=28;Dels=0.00;FS=7.402;HRun=3;HaplotypeScore=2.4432;MQ=57.03;MQ0=0;MQRankSum=0.534;QD=11.32;ReadPosRankSum=-1.370;VQSLOD=2.9647;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:347,0,415 1 6704635 6704635 A G exonic DNAJC11 synonymous SNV DNAJC11:NM_018198:exon10:c.T1080C:p.G360G 0.83 0.87 0.96 0.57 0.92 0.87 0.8836 0.8781 0.9655 0.5977 0.8741 0.9093 0.8612 0.8803 0.9 0.88 0.91 0.86 0.87 rs200458 COSM3747064 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8861 0.8774 0.9650 0.9187 0.5945 0.8708 0.9087 0.9055 0.8829 0.8748 0.8724 0.9499 0.8841 0.5730 0.8712 0.9033 0.9041 hom 3233.06 104 1 6704635 . A G 3233.06 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=59.60;MQ0=0;QD=31.09;VQSLOD=9.3102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3266,271,0 1 7723534 7723534 G A exonic CAMTA1 synonymous SNV CAMTA1:NM_001349608:exon8:c.G837A:p.S279S,CAMTA1:NM_001349612:exon8:c.G837A:p.S279S,CAMTA1:NM_001349609:exon9:c.G927A:p.S309S,CAMTA1:NM_001349610:exon9:c.G927A:p.S309S,CAMTA1:NM_015215:exon9:c.G927A:p.S309S 0.15 0.18 0.25 0.24 0.063 0.051 0.1189 0.1491 0.3579 0.2544 0.0634 0.0714 0.0928 0.0551 0.091 0.14 0.068 0.16 0.041 rs3737907 COSM5827993;COSM3751389 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1216 0.1556 0.3403 0.0318 0.2595 0.0665 0.0686 0.1032 0.0439 0.1076 0.1487 0.2876 0.0298 0.2469 0.0641 0.0719 0.0837 het 3029.02 161 1 7723534 . G A 3029.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.677;DP=161;DS;Dels=0.01;FS=1.408;HRun=0;HaplotypeScore=8.6476;MQ=59.58;MQ0=0;MQRankSum=-1.233;QD=18.70;ReadPosRankSum=-0.032;VQSLOD=3.1087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,99:161:99:3059,0,1587 1 7723957 7723957 G A exonic CAMTA1 synonymous SNV CAMTA1:NM_001349608:exon8:c.G1260A:p.S420S,CAMTA1:NM_001349612:exon8:c.G1260A:p.S420S,CAMTA1:NM_001349609:exon9:c.G1350A:p.S450S,CAMTA1:NM_001349610:exon9:c.G1350A:p.S450S,CAMTA1:NM_015215:exon9:c.G1350A:p.S450S 0.4 0.39 0.45 0.33 0.43 0.42 0.4450 0.3792 0.5023 0.3479 0.5012 0.4652 0.3819 0.3961 0.43 0.37 0.46 0.41 0.4 rs12128526 COSM3751390;COSM5827995 1(breast);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign not_specified RCV000116536.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4477 0.3836 0.5062 0.3893 0.3513 0.5112 0.4621 0.4230 0.3947 0.4396 0.3886 0.4964 0.4333 0.3456 0.4891 0.4624 0.4754 hom 5209.57 148 1 7723957 . G A 5209.57 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.03;MQ0=0;QD=35.20;VQSLOD=8.9071;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:5209,412,0 1 7870048 7870048 T C exonic PER3 synonymous SNV PER3:NM_001289861:exon12:c.T1338C:p.S446S,PER3:NM_001289862:exon12:c.T1338C:p.S446S,PER3:NM_001289863:exon12:c.T1338C:p.S446S,PER3:NM_001289864:exon12:c.T381C:p.S127S,PER3:NM_016831:exon12:c.T1335C:p.S445S 0.88 0.97 0.76 0.72 0.93 0.94 0.8916 0.9634 0.6337 0.7226 0.9525 0.9295 0.9207 0.9361 0.94 0.96 0.93 0.85 0.93 rs228669 COSM4144191 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8810 0.9659 0.6494 0.9403 0.7160 0.9561 0.9280 0.8889 0.9389 0.9258 0.9636 0.7160 0.9570 0.7132 0.9588 0.9299 0.9294 hom 4216.30 134 1 7870048 . T C 4216.30 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4287;MQ=59.72;MQ0=0;QD=31.46;VQSLOD=7.3510;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4216,337,0 1 7880683 7880683 T G exonic PER3 nonsynonymous SNV PER3:NM_001289861:exon16:c.T1940G:p.V647G,PER3:NM_001289862:exon16:c.T1940G:p.V647G,PER3:NM_001289863:exon16:c.T1919G:p.V640G,PER3:NM_001289864:exon16:c.T983G:p.V328G,PER3:NM_016831:exon16:c.T1916G:p.V639G 0.12 0.07 0.21 0.0079 0.2 0.16 0.1662 0.0905 0.1862 0.0078 0.2470 0.1838 0.1659 0.1804 0.16 0.096 0.19 0.098 0.2 rs10462020 . . . . . . . . . . . . . 0.001 0.784 D 0.22 0.516 B 0.115 0.537 B 0.021 0.269 N 1.000 0.192 P 1.975 0.537 M 1.7 0.280 T -5.36 0.852 D 0.153 0.267 -1.097 0.045 T 0.000 0.001 T . . . 0.901 0.180 10.08 0.986 0.427 0.196 0.205 N c -0.790 -1.043 0.020 0.132 0.732 0.924 0 -6.91 0.015 0.678 0.248 -0.121 0.113 0.309 0.252 0.000 0.016 8.540 0.324 . ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8 Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid|Whole_Blood 0.1704 0.0897 0.1920 0.1458 0.0044 0.2445 0.1857 0.1754 0.1784 0.1592 0.0872 0.1611 0.1788 0.0025 0.2477 0.1950 0.1884 het 867.69 82 1 7880683 . T G 867.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.890;DP=82;Dels=0.00;FS=1.960;HRun=1;HaplotypeScore=3.1233;MQ=58.69;MQ0=0;MQRankSum=0.128;QD=10.58;ReadPosRankSum=0.109;VQSLOD=6.2401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,37:82:99:898,0,1140 1 7887493 7887493 T C exonic PER3 nonsynonymous SNV PER3:NM_001289861:exon18:c.T2504C:p.L835P,PER3:NM_001289862:exon18:c.T2504C:p.L835P,PER3:NM_001289863:exon18:c.T2483C:p.L828P,PER3:NM_001289864:exon18:c.T1547C:p.L516P,PER3:NM_016831:exon18:c.T2480C:p.L827P 0.98 0.98 0.97 1. 0.95 0.98 0.9688 0.9724 0.9892 0.9990 0.9645 0.9591 0.9769 0.9771 0.96 0.97 0.95 0.97 0.97 rs228696 . . . . . . . . . . . . . 0.501 0.077 T 0.0 0.026 B 0.0 0.040 B 0.738 0.064 N 1 0.090 P -1.435 0.006 N 2.88 0.103 T 3.58 0.001 N 0.05 0.100 -0.965 0.383 T 0.000 0.000 T . . . -0.730 0.043 0.061 0.453 0.035 0.002 0.014 N c -1.279 -1.279 1.000 0.747 0.707 0.730 0 2.16 0.265 0.951 0.285 -0.327 0.075 0.002 0.151 0.000 0.016 6.979 0.237 . . . 0.9695 0.9737 0.9858 0.9741 0.9994 0.9680 0.9572 0.9650 0.9782 0.9676 0.9709 0.9845 0.9801 1 0.9691 0.9606 0.9674 hom 4646.80 138 1 7887493 . T C 4646.80 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4496;MQ=59.23;MQ0=0;QD=33.67;VQSLOD=7.9222;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,137:138:99:4646,379,0 1 7890064 7890064 A G exonic;splicing PER3;PER3 NM_001289861:exon20:c.3002-2A>G;NM_001289863:exon20:c.2981-2A>G synonymous SNV PER3:NM_001289862:exon19:c.A3057G:p.T1019T,PER3:NM_001289864:exon19:c.A2097G:p.T699T,PER3:NM_016831:exon19:c.A3030G:p.T1010T 0.24 0.24 0.21 0.15 0.29 0.33 0.1347 0.1460 0.0618 0.0671 0.1506 0.1544 0.1582 0.1539 . . . . 0.32 rs12023156 COSM3747080 1(breast);2(liver) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . -0.721 0.044 0.064 0.478 0.039 0.014 0.047 N c -0.742 -0.983 1.000 0.454 0.707 0.730 0 0.119 0.139 -0.791 0.047 -1.623 0.009 0.000 0.063 0.000 0.016 . . . . . 0.1385 0.1506 0.0969 0.1174 0.1019 0.2008 0.1417 0.1659 0.1427 0.4091 0.3826 0.3552 0.4430 0.3528 0.4270 0.4224 0.4245 het 2819.82 173 1 7890064 . A G 2819.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.237;DP=173;Dels=0.00;FS=2.761;HRun=2;HaplotypeScore=9.0990;MQ=59.21;MQ0=1;MQRankSum=-0.569;QD=16.30;ReadPosRankSum=0.270;VQSLOD=3.3368;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,102:173:99:2850,0,1825 1 7890117 7890117 T C exonic PER3 nonsynonymous SNV PER3:NM_001289862:exon19:c.T3110C:p.M1037T,PER3:NM_001289864:exon19:c.T2150C:p.M717T,PER3:NM_016831:exon19:c.T3083C:p.M1028T,PER3:NM_001289861:exon20:c.T3053C:p.M1018T,PER3:NM_001289863:exon20:c.T3032C:p.M1011T 0.19 0.097 0.29 0.051 0.29 0.26 0.2531 0.1146 0.2469 0.0538 0.3247 0.2903 0.2852 0.2677 0.24 0.13 0.3 0.15 0.29 rs2640909 COSM1741534 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 0.203 0.201 T 0.0 0.163 B 0.001 0.154 B 0.039 0.019 N 1 0.090 P 0 0.065 N 2.58 0.134 T 0.76 0.028 N 0.051 0.043 -0.939 0.428 T 0.000 0.000 T . . . -1.496 0.017 0.003 0.390 0.026 0.001 0.007 N c -1.594 -1.674 1.000 0.462 0.707 0.730 0 -1.54 0.081 -0.207 0.093 0.341 0.273 0.007 0.175 0.031 0.148 3.401 0.068 . ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Whole_Blood 0.1356 0.0570 0.1371 0.1342 0.0241 0.2251 0.1539 0.1548 0.1326 0.2280 0.1115 0.2373 0.3179 0.0489 0.3251 0.2876 0.2697 het 4023.71 246 1 7890117 . T C 4023.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.525;DP=246;Dels=0.00;FS=5.194;HRun=0;HaplotypeScore=9.9578;MQ=59.36;MQ0=0;MQRankSum=-1.743;QD=16.36;ReadPosRankSum=-0.501;VQSLOD=2.2427;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,134:246:99:3409,0,2955 1 7897133 7897133 A G exonic PER3 nonsynonymous SNV PER3:NM_001289862:exon21:c.A3473G:p.H1158R,PER3:NM_001289864:exon21:c.A2513G:p.H838R,PER3:NM_016831:exon21:c.A3446G:p.H1149R,PER3:NM_001289861:exon22:c.A3416G:p.H1139R,PER3:NM_001289863:exon22:c.A3395G:p.H1132R 0.12 0.071 0.21 0.0079 0.2 0.16 0.1659 0.0907 0.1876 0.0073 0.2483 0.1839 0.1674 0.1757 0.16 0.096 0.19 0.098 0.2 rs10462021 COSM3751396 1(large_intestine) . . . . . . . . . . . 0.254 0.189 T 0.002 0.090 B 0.003 0.080 B 0.119 0.027 N 1 0.090 P 0.345 0.112 N 2.57 0.136 T -0.76 0.212 N 0.015 0.007 -0.990 0.327 T 0.000 0.000 T . . . -0.101 0.084 1.720 0.729 0.098 0.023 0.065 N c -1.408 -1.500 0.409 0.202 0.563 0.310 0 -8.51 0.008 -0.017 0.124 -0.855 0.029 0.000 0.063 0.019 0.132 1.389 0.021 Period circadian-like\x2c C-terminal ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8 Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid|Whole_Blood 0.1706 0.0902 0.1920 0.1458 0.0042 0.2446 0.1861 0.1758 0.1777 0.1591 0.0875 0.1611 0.1788 0.0025 0.2480 0.1947 0.1878 het 1030.65 79 1 7897133 . A G 1030.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=79;Dels=0.00;FS=1.874;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.456;QD=13.05;ReadPosRankSum=-0.260;VQSLOD=6.6268;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,41:79:99:1061,0,983 1 7913430 7913430 G A exonic UTS2 nonsynonymous SNV UTS2:NM_021995:exon1:c.C62T:p.T21M 0.48 0.43 0.41 0.35 0.57 0.63 0.5229 0.4688 0.2982 0.3526 0.4511 0.5730 0.5650 0.6278 0.54 0.47 0.57 0.46 0.51 rs228648 COSM3751400 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.017 0.512 D 0.216 0.285 B 0.023 0.188 B . . . 1 0.090 P . . . 1.34 0.348 T -0.58 0.174 N 0.053 0.035 -0.943 0.422 T 0.000 0.000 T . . . 1.600 0.254 13.85 0.930 0.220 0.012 0.042 N c -0.958 -1.083 0.395 0.201 0.497 0.185 0 -3.06 0.050 -0.447 0.068 -0.102 0.116 0.001 0.137 0.052 0.166 10.906 0.461 . . . 0.5129 0.4691 0.3172 0.6255 0.3496 0.4497 0.5722 0.5339 0.6302 0.5079 0.4647 0.3852 0.6225 0.3683 0.4607 0.5617 0.5358 het 1040.38 89 1 7913430 . G A 1040.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.387;DP=89;Dels=0.00;FS=1.870;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=2.047;QD=11.69;ReadPosRankSum=1.426;VQSLOD=5.6363;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,39:89:99:1070,0,1283 1 8390495 8390495 A G exonic SLC45A1 synonymous SNV SLC45A1:NM_001080397:exon5:c.A1044G:p.P348P 0.78 0.74 0.78 0.85 0.74 0.79 0.7693 0.7588 0.7824 0.8524 0.8560 0.7457 0.7664 0.7799 0.74 0.75 0.74 0.71 0.5 rs1058619 COSM3749072;COSM3749071 1(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7694 0.7563 0.7774 0.6359 0.8537 0.8548 0.7484 0.7389 0.7807 0.7804 0.7466 0.7673 0.6733 0.8605 0.8697 0.7717 0.8031 het 223.13 31 1 8390495 . A G 223.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=59.25;MQ0=0;MQRankSum=0.094;QD=7.20;ReadPosRankSum=-0.188;VQSLOD=5.1249;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,11:31:99:253,0,440 1 8390888 8390888 G A exonic SLC45A1 synonymous SNV SLC45A1:NM_001080397:exon5:c.G1437A:p.P479P 0.34 0.54 0.29 0.17 0.33 0.3 0.3144 0.5137 0.2599 0.1689 0.2096 0.3238 0.3114 0.3086 0.39 0.51 0.32 0.36 0.43 rs2289731 COSM4144193;COSM426744 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3049 0.5146 0.2643 0.4091 0.1700 0.2037 0.3176 0.3328 0.3099 0.3433 0.5203 0.2768 0.3675 0.1677 0.1916 0.3022 0.2781 het 605.09 88 1 8390888 . G A 605.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.843;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9937;MQ=58.62;MQ0=0;MQRankSum=0.162;QD=6.88;ReadPosRankSum=-0.478;VQSLOD=5.1706;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,27:88:99:635,0,1694 1 8418644 8418644 C A exonic RERE synonymous SNV RERE:NM_001042682:exon10:c.G2289T:p.R763R,RERE:NM_001042681:exon20:c.G3951T:p.R1317R,RERE:NM_012102:exon21:c.G3951T:p.R1317R 0.8 0.86 0.78 0.9 0.67 0.75 0.7221 0.8407 0.7936 0.8888 0.5744 0.6787 0.7215 0.7390 0.73 0.84 0.68 0.79 0.48 rs11121172 COSM681943 1(lung);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7177 0.8441 0.7906 0.7888 0.8932 0.5656 0.6675 0.7118 0.7403 0.7193 0.8373 0.7897 0.7979 0.9005 0.5594 0.6675 0.6495 het 213.28 19 1 8418644 . C A 213.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.184;DP=19;Dels=0.00;FS=2.077;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.204;QD=11.23;ReadPosRankSum=0.449;VQSLOD=6.2385;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:243,0,274 1 8418650 8418650 T C exonic RERE synonymous SNV RERE:NM_001042682:exon10:c.A2283G:p.R761R,RERE:NM_001042681:exon20:c.A3945G:p.R1315R,RERE:NM_012102:exon21:c.A3945G:p.R1315R 0.8 0.87 0.78 0.9 0.67 0.75 0.7225 0.8439 0.7936 0.8889 0.5734 0.6795 0.7195 0.7379 0.73 0.84 0.68 0.77 0.51 rs1058766 COSM3751406 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7186 0.8477 0.7910 0.7921 0.8940 0.5666 0.6682 0.7124 0.7403 0.7210 0.8395 0.7909 0.8027 0.9016 0.5598 0.6688 0.6546 het 252.58 21 1 8418650 . T C 252.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.532;DP=21;Dels=0.00;FS=4.269;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.608;QD=12.03;ReadPosRankSum=0.988;VQSLOD=5.3832;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,10:21:99:283,0,351 1 9009406 9009406 C T exonic CA6 nonsynonymous SNV CA6:NM_001215:exon2:c.C164T:p.T55M,CA6:NM_001270500:exon2:c.C164T:p.T55M 0.27 0.081 0.38 0.24 0.42 0.33 0.3544 0.1368 0.3180 0.2471 0.4672 0.4141 0.3708 0.2854 0.32 0.14 0.41 0.21 0.39 rs2274327 COSM4144237;COSM4144236 1(thyroid) . . . . . . . . . . . 0.101 0.496 T 0.987 0.600 D 0.715 0.528 P 0.734 0.098 N 1 0.090 P 1.335 0.334 L -0.32 0.682 T -0.27 0.291 N 0.069 0.426 -1.028 0.210 T 0.000 0.000 T . . . 3.011 0.422 22.3 0.991 0.530 0.033 0.083 N c -1.054 -1.300 0.990 0.320 0.487 0.133 0 -7.73 0.011 -0.241 0.089 -1.310 0.013 0.000 0.063 0.001 0.043 12.547 0.554 Alpha carbonic anhydrase . . 0.3583 0.1278 0.3189 0.5068 0.2462 0.4649 0.4041 0.4001 0.2799 0.3213 0.1341 0.3529 0.5563 0.2600 0.4593 0.3935 0.3932 het 684.62 62 1 9009406 . C T 684.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=62;Dels=0.00;FS=5.329;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;MQRankSum=1.150;QD=11.04;ReadPosRankSum=0.951;VQSLOD=4.9975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,27:62:99:715,0,994 1 9009444 9009444 A C exonic CA6 nonsynonymous SNV CA6:NM_001215:exon2:c.A202C:p.M68L,CA6:NM_001270500:exon2:c.A202C:p.M68L 0.5 0.56 0.47 0.41 0.54 0.5 0.4908 0.5392 0.3747 0.4284 0.5486 0.5145 0.4922 0.4548 0.53 0.55 0.52 0.47 0.57 rs2274328 COSM1599878;COSM1599877 1(haematopoietic_and_lymphoid_tissue);2(liver);1(thyroid);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.588 P -2.295 0.001 N 0.07 0.617 T 0.77 0.020 N 0.093 0.092 -0.928 0.444 T 0.000 0.000 T . . . -1.161 0.026 0.008 0.303 0.016 0.002 0.010 N c -1.321 -1.198 0.325 0.194 0.487 0.133 0 2.4 0.284 0.643 0.243 -0.305 0.080 0.416 0.261 0.002 0.062 4.599 0.117 Alpha carbonic anhydrase . . 0.4892 0.5381 0.3807 0.6239 0.4265 0.5470 0.5102 0.5090 0.4529 0.5087 0.5392 0.4305 0.7053 0.4134 0.5347 0.4965 0.4929 het 879.15 73 1 9009444 . A C 879.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.741;DP=73;Dels=0.00;FS=0.951;HRun=0;HaplotypeScore=4.3123;MQ=59.37;MQ0=0;MQRankSum=0.116;QD=12.04;ReadPosRankSum=-0.249;VQSLOD=6.1297;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,33:73:99:909,0,1101 1 9079365 9079365 G A exonic SLC2A7 synonymous SNV SLC2A7:NM_207420:exon4:c.C339T:p.I113I 0.085 0.1 0.06 0.19 0.004 0.056 0.0355 0.0910 0.0622 0.1824 0.0208 0.0039 0.0334 0.0381 0.032 0.085 0.0044 0.087 . rs10864379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0363 0.0888 0.0625 0.0035 0.1856 0.0204 0.0039 0.0299 0.0386 0.0417 0.0898 0.0489 0.0033 0.1807 0.0206 0.0053 0.0244 het 802.58 59 1 9079365 . G A 802.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.189;DP=59;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9987;MQ=59.22;MQ0=0;MQRankSum=-1.253;QD=13.60;ReadPosRankSum=-0.375;VQSLOD=6.1784;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,29:59:99:833,0,765 1 9304979 9304986 CCCAGGCA - exonic H6PD nonframeshift deletion H6PD:NM_001282587:exon2:c.24_26del:p.W8_H9delinsC 0.11 0.011 0.23 0.072 0.15 0.15 0.1526 0.0293 0.3293 0.0847 0.1725 0.1478 0.1498 0.1555 0.098 0.029 0.13 . . rs139855605 COSN518150 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1594 0.0247 0.3248 0.1343 0.0869 0.1703 0.1423 0.1466 0.1532 0.1198 0.0282 0.2993 0.1325 0.0666 0.1682 0.1548 0.1605 het 1074.52 95 1 9304978 . CCCCAGGCA C 1074.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.133;DP=95;FS=0.000;HRun=0;HaplotypeScore=663.9329;MQ=53.72;MQ0=0;MQRankSum=-5.411;QD=11.19;ReadPosRankSum=-0.750;set=variant2 GT:AD:DP:GQ:PL 0/1:79,17:95:99:1114,0,8158 1 9324571 9324571 T C exonic H6PD synonymous SNV H6PD:NM_001282587:exon5:c.T2052C:p.Y684Y,H6PD:NM_004285:exon5:c.T2019C:p.Y673Y 0.4 0.5 0.42 0.17 0.41 0.5 0.4157 0.4853 0.5444 0.1495 0.3444 0.4022 0.4022 0.5032 0.43 0.49 0.4 0.43 0.36 rs9434742 COSM426841 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4124 0.4848 0.5268 0.4239 0.1535 0.3376 0.3979 0.4019 0.5011 0.4092 0.4845 0.4713 0.4 0.1506 0.3406 0.4051 0.4252 het 1345.74 109 1 9324571 . T C 1345.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.578;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8815;MQ=58.89;MQ0=0;MQRankSum=1.598;QD=12.35;ReadPosRankSum=1.154;VQSLOD=5.8438;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,50:109:99:1376,0,1636 1 9324670 9324670 A G exonic H6PD synonymous SNV H6PD:NM_001282587:exon5:c.A2151G:p.S717S,H6PD:NM_004285:exon5:c.A2118G:p.S706S 0.4 0.51 0.43 0.15 0.4 0.49 0.4093 0.4942 0.5433 0.1347 0.3456 0.3926 0.4 0.4979 0.42 0.49 0.39 0.46 0.28 rs9434743 COSM3751457 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4070 0.4949 0.5269 0.4069 0.1391 0.3373 0.3900 0.3941 0.4966 0.4060 0.4930 0.4797 0.3907 0.1324 0.3390 0.3965 0.4105 het 1194.58 108 1 9324670 . A G 1194.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.341;DP=108;Dels=0.00;FS=18.546;HRun=0;HaplotypeScore=2.2566;MQ=58.75;MQ0=0;MQRankSum=0.526;QD=11.06;ReadPosRankSum=-0.162;VQSLOD=2.7642;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,47:108:99:1225,0,1618 1 9416346 9416346 C T exonic SPSB1 synonymous SNV SPSB1:NM_025106:exon2:c.C396T:p.L132L 0.2 0.065 0.18 0.28 0.32 0.18 0.2535 0.0921 0.1220 0.2989 0.3248 0.3016 0.2746 0.1993 0.23 0.097 0.3 0.23 0.36 rs3795309 COSM3747118 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2519 0.0870 0.1345 0.2272 0.2937 0.3156 0.3074 0.2537 0.1987 0.2367 0.0913 0.1667 0.2285 0.2571 0.3091 0.3035 0.2797 het 1174.32 81 1 9416346 . C T 1174.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.400;DP=81;Dels=0.00;FS=0.859;HRun=1;HaplotypeScore=1.8295;MQ=59.14;MQ0=0;MQRankSum=0.506;QD=14.50;ReadPosRankSum=1.432;VQSLOD=5.6617;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,39:81:99:1204,0,1134 1 9811541 9811541 A G exonic CLSTN1 synonymous SNV CLSTN1:NM_014944:exon4:c.T609C:p.V203V,CLSTN1:NM_001009566:exon5:c.T639C:p.V213V,CLSTN1:NM_001302883:exon5:c.T639C:p.V213V 0.31 0.61 0.22 0.19 0.077 0.33 0.1771 0.5353 0.2567 0.1770 0.0992 0.0854 0.1645 0.2984 0.23 0.52 0.084 0.45 0.057 rs11674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1692 0.5468 0.2376 0.0669 0.1718 0.1024 0.0849 0.1400 0.2975 0.2217 0.5455 0.2045 0.0695 0.1735 0.0939 0.0789 0.1332 het 1488.48 101 1 9811541 . A G 1488.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.651;DP=101;Dels=0.00;FS=2.986;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=1.324;QD=14.74;ReadPosRankSum=-0.709;VQSLOD=6.1443;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,60:101:99:1518,0,1142 1 10421878 10421878 A G exonic KIF1B synonymous SNV KIF1B:NM_015074:exon38:c.A4161G:p.P1387P 0.08 0.0045 0.092 0.013 0.12 0.2 0.1128 0.0222 0.0561 0.0052 0.1102 0.1292 0.1093 0.2003 0.09 0.021 0.13 0.043 0.074 rs12125492 COSM3747465 1(liver) other|Likely benign|Likely benign|Likely benign not_specified|Neuroblastoma|Charcot-Marie-Tooth\x2c_Type_2|Pheochromocytoma RCV000117407.3|RCV000311387.1|RCV000336025.1|RCV000404134.1 MedGen|MeSH:MedGen:OMIM|MedGen|MedGen:OMIM CN169374|D009447:C0027819:256700|CN239171|C0031511:171300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1120 0.0208 0.0575 0.1950 0.0041 0.1144 0.1263 0.1119 0.1976 0.0854 0.0218 0.0680 0.1623 0.0031 0.1042 0.1237 0.1255 het 2217.43 209 1 10421878 . A G 2217.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.757;DP=209;Dels=0.00;FS=0.528;HRun=1;HaplotypeScore=1.7046;MQ=59.60;MQ0=0;MQRankSum=-0.302;QD=10.61;ReadPosRankSum=-0.067;VQSLOD=6.7002;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,88:209:99:2247,0,3345 1 10511544 10511544 C T exonic CENPS-CORT;CORT synonymous SNV CORT:NM_001302:exon2:c.C210T:p.A70A,CENPS-CORT:NM_001243768:exon4:c.C324T:p.A108A,CENPS-CORT:NM_198544:exon5:c.C387T:p.A129A 0.29 0.021 0.31 0.49 0.39 0.32 0.3679 0.0723 0.3283 0.4906 0.3945 0.4097 0.4241 0.3250 0.29 0.08 0.4 0.2 0.27 rs628462 COSM1332195;COSM1332194 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3692 0.0619 0.3400 0.4005 0.4896 0.3975 0.4032 0.4054 0.3284 0.3111 0.0708 0.3756 0.3967 0.4771 0.3938 0.4048 0.3706 het 324.70 25 1 10511544 . C T 324.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.548;DP=25;Dels=0.00;FS=6.701;HRun=0;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;MQRankSum=-0.837;QD=12.99;ReadPosRankSum=-0.144;VQSLOD=4.8090;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:355,0,355 1 10511589 10511589 T C exonic CENPS-CORT;CORT synonymous SNV CORT:NM_001302:exon2:c.T255C:p.S85S,CENPS-CORT:NM_001243768:exon4:c.T369C:p.S123S,CENPS-CORT:NM_198544:exon5:c.T432C:p.S144S 0.87 0.88 0.82 0.86 0.93 0.83 0.8965 0.8969 0.7740 0.8237 0.8631 0.9404 0.9087 0.8556 0.93 0.91 0.94 0.83 0.81 rs666103 COSM146398;COSM146397 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8922 0.8937 0.7932 0.9892 0.8251 0.8679 0.9390 0.9011 0.8561 0.9116 0.8981 0.8496 0.9834 0.8393 0.8645 0.9408 0.9018 hom 599.59 22 1 10511589 . T C 599.59 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=27.25;VQSLOD=8.4574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:54.13:633,54,0 1 10596341 10596341 C T exonic PEX14 synonymous SNV PEX14:NM_004565:exon3:c.C156T:p.F52F 0.23 0.066 0.43 0.2 0.31 0.25 0.2843 0.1040 0.4313 0.2069 0.3381 0.3052 0.2577 0.2303 0.25 0.11 0.32 0.17 0.39 rs12375 COSM3750201 1(large_intestine) Benign|Benign not_specified|Zellweger_syndrome RCV000253456.1|RCV000408124.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043459:214100:ORPHA912:88469006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2951 0.0992 0.4109 0.2756 0.2106 0.3299 0.3132 0.2915 0.2296 0.2537 0.0992 0.3624 0.2550 0.2005 0.3353 0.3220 0.2906 het 862.89 65 1 10596341 . C T 862.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.121;DP=65;Dels=0.00;FS=9.134;HRun=2;HaplotypeScore=1.9311;MQ=59.14;MQ0=0;MQRankSum=0.427;QD=13.28;ReadPosRankSum=-1.320;VQSLOD=4.7518;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,34:65:99:893,0,811 1 11087524 11087524 G A exonic MASP2 synonymous SNV MASP2:NM_006610:exon11:c.C1479T:p.S493S 0.69 0.3 0.8 0.87 0.84 0.8 0.7855 0.3490 0.8305 0.8675 0.8269 0.8289 0.8084 0.7929 0.67 0.36 0.83 0.56 0.84 rs1782455 COSM527457 1(pancreas) Benign|Benign|Benign|Benign Amyotrophic_Lateral_Sclerosis\x2c_Dominant|MASP2_deficiency|Frontotemporal_dementia|not_specified RCV000262387.1|RCV000294328.1|RCV000357134.1|RCV000455702.1 MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN239175|C3151085:613791:ORPHA331187|C0338451:600274:ORPHA282:230270009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7941 0.3379 0.8241 0.7317 0.8664 0.8306 0.8344 0.8007 0.7934 0.6937 0.3467 0.8198 0.6854 0.8818 0.8277 0.8310 0.7821 hom 7432.36 230 1 11087524 . G A 7432.36 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5993;MQ=59.23;MQ0=0;QD=32.31;VQSLOD=8.1073;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7431,581,0 1 11090916 11090916 C A exonic MASP2 nonsynonymous SNV MASP2:NM_006610:exon9:c.G1111T:p.D371Y 0.58 0.17 0.75 0.67 0.82 0.68 0.7359 0.2507 0.8123 0.6551 0.8172 0.8092 0.7616 0.7001 0.63 0.27 0.81 0.42 0.78 rs12711521 COSM3996739 1(haematopoietic_and_lymphoid_tissue) Benign|Benign MASP2_deficiency|not_specified RCV000396976.1|RCV000454761.1 MedGen:OMIM:Orphanet|MedGen C3151085:613791:ORPHA331187|CN169374 . . . . . . 0.057 0.379 T 0.748 0.413 P 0.566 0.479 P 0.005 0.336 N 0.060 0.373 P 2.855 0.832 M -0.28 0.676 T -2.85 0.600 D 0.296 0.356 -1.010 0.270 T 0.000 0.000 T . . . 2.949 0.415 22.1 0.991 0.530 0.454 0.273 N c -0.107 -0.279 1.000 0.517 0.498 0.195 0 3.5 0.390 0.882 0.276 0.071 0.179 0.019 0.194 0.048 0.163 10.583 0.443 Sushi/SCR/CCP domain ENSG00000271895.1|ENSG00000171824.9|ENSG00000226849.1|ENSG00000171824.9|ENSG00000009724.12|ENSG00000271895.1|ENSG00000271895.1|ENSG00000171824.9 Adipose_Subcutaneous|Brain_Cerebellum|Brain_Cortex|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7464 0.2350 0.8028 0.6923 0.6559 0.8200 0.8157 0.7630 0.7001 0.6413 0.2450 0.7914 0.6533 0.6636 0.8153 0.8128 0.7505 hom 2919 104 1 11090916 . C A 2919 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.266;DP=104;Dels=0.00;FS=3.054;HRun=1;HaplotypeScore=4.5539;MQ=59.64;MQ0=0;MQRankSum=1.699;QD=28.07;ReadPosRankSum=-0.666;VQSLOD=3.8605;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,103:104:99:2952,199,0 1 11106666 11106666 T C exonic MASP2 nonsynonymous SNV MASP2:NM_006610:exon3:c.A359G:p.D120G,MASP2:NM_139208:exon3:c.A359G:p.D120G 0.012 0.0008 0.023 . 0.039 0.0041 0.0225 0.0050 0.0088 0 0.0479 0.0326 0.0204 0.0041 0.021 0.0059 0.029 0.022 0.033 rs72550870 COSM1320150 1(ovary) other|Benign MASP2_deficiency|not_specified RCV000005520.4|RCV000239142.1 MedGen:OMIM:Orphanet|MedGen C3151085:613791:ORPHA331187|CN169374 . . . . . . 0.0 0.912 D 0.996 0.670 D 0.954 0.710 D 0.000 0.629 D 1 0.810 A 3.615 0.940 H 1.1 0.390 T -6.57 0.936 D 0.97 0.970 -0.375 0.728 T 0.104 0.382 T . . . 5.811 0.795 27.2 0.998 0.923 0.974 0.742 D c 0.798 0.713 1.000 0.747 0.554 0.283 0 4.77 0.603 7.729 0.837 1.061 0.807 1.000 0.715 0.990 0.544 13.272 0.594 CUB domain . . 0.0216 0.0043 0.0102 0.0033 0 0.0473 0.0323 0.0173 0.0040 0.0252 0.0054 0.0084 0.0033 0 0.0461 0.0355 0.0337 het 843.17 81 1 11106666 . T C 843.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.011;DP=81;Dels=0.00;FS=0.861;HRun=1;HaplotypeScore=1.6439;MQ=59.72;MQ0=0;MQRankSum=0.462;QD=10.41;ReadPosRankSum=-0.532;VQSLOD=5.9209;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,33:81:99:873,0,1204 1 11119899 11119899 T C exonic SRM synonymous SNV SRM:NM_003132:exon1:c.A102G:p.S34S 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.36 0.61 rs7545802 COSM4142128 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 417.44 17 1 11119899 . T C 417.44 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.39;MQ0=0;QD=24.56;VQSLOD=6.7419;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.10:450,39,0 1 11132217 11132217 G A exonic EXOSC10 synonymous SNV EXOSC10:NM_002685:exon19:c.C2094T:p.R698R,EXOSC10:NM_001001998:exon20:c.C2169T:p.R723R 0.61 0.2 0.76 0.78 0.74 0.72 0.7022 0.2696 0.8060 0.7950 0.7227 0.7326 0.7081 0.7220 0.59 0.29 0.74 0.53 0.7 rs1130683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7108 0.2533 0.7993 0.5819 0.7885 0.7204 0.7420 0.7036 0.7217 0.6023 0.2664 0.7799 0.5497 0.7887 0.7101 0.7384 0.6830 hom 4086.71 137 1 11132217 . G A 4086.71 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=29.83;VQSLOD=9.2324;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4086,331,0 1 11141187 11141187 C G exonic EXOSC10 synonymous SNV EXOSC10:NM_001001998:exon11:c.G1389C:p.P463P,EXOSC10:NM_002685:exon11:c.G1389C:p.P463P 0.77 0.54 0.84 0.94 0.77 0.87 0.7790 0.5476 0.8896 0.9412 0.7737 0.7617 0.7892 0.8338 0.69 0.56 0.76 0.76 0.76 rs2258621 COSM4142130;COSM4142129 1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7844 0.5371 0.8822 0.6479 0.9384 0.7750 0.7663 0.7717 0.8330 0.7153 0.5512 0.8652 0.6159 0.9400 0.7726 0.7640 0.7541 hom 2548.96 87 1 11141187 . C G 2548.96 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.25;MQ0=0;QD=29.30;VQSLOD=7.3208;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2582,226,0 1 11205058 11205058 C T exonic MTOR synonymous SNV MTOR:NM_004958:exon33:c.G4731A:p.A1577A 0.55 0.064 0.7 0.82 0.74 0.62 0.6779 0.1588 0.7357 0.8203 0.7245 0.7321 0.7004 0.6512 0.55 0.18 0.73 0.46 0.69 rs1057079 COSM4142146 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6868 0.1410 0.7281 0.5828 0.8135 0.7214 0.7409 0.6849 0.6543 0.5689 0.1535 0.7124 0.5530 0.8004 0.7093 0.7379 0.6735 hom 6691.67 237 1 11205058 . C T 6691.67 Mask AC=2;AF=1.00;AN=2;DP=237;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=28.23;VQSLOD=8.3208;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:6691,503,0 1 11288758 11288758 G A exonic MTOR synonymous SNV MTOR:NM_004958:exon19:c.C2997T:p.N999N 0.7 0.34 0.81 0.92 0.72 0.86 0.7429 0.3842 0.8724 0.9192 0.7455 0.7316 0.7731 0.8284 0.62 0.4 0.73 0.65 0.7 rs1064261 COSM4142152 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7517 0.3697 0.8633 0.6567 0.9183 0.7462 0.7336 0.7446 0.8278 0.6449 0.3858 0.8365 0.6126 0.9283 0.7467 0.7263 0.7157 hom 2823.14 87 1 11288758 . G A 2823.14 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=32.45;VQSLOD=9.1889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2856,232,0 1 11301714 11301714 A G exonic MTOR synonymous SNV MTOR:NM_004958:exon10:c.T1437C:p.D479D 0.64 0.22 0.76 0.88 0.72 0.78 0.7170 0.2905 0.8029 0.8811 0.7454 0.7313 0.7577 0.7681 0.59 0.31 0.73 0.59 0.57 rs1135172 COSM4142157 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7257 0.2740 0.7938 0.6566 0.8782 0.7473 0.7333 0.7251 0.7700 0.6129 0.2871 0.7751 0.6126 0.8837 0.7487 0.7263 0.7070 hom 7327.47 246 1 11301714 . A G 7327.47 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9392;MQ=59.20;MQ0=0;QD=29.79;VQSLOD=4.5779;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7326,602,0 1 11561593 11561593 G A exonic DISP3 nonsynonymous SNV DISP3:NM_020780:exon2:c.G544A:p.G182S 0.37 0.14 0.63 0.27 0.66 0.3 0.5561 0.2300 0.6722 0.2823 0.6473 0.6451 0.6008 0.3745 0.51 0.25 0.63 0.34 0.43 rs2817580 COSM3750253;COSM3750254 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.008 0.135 B 0.011 0.145 B . . . 1 0.090 P 0 0.065 N 1.99 0.217 T -0.31 0.121 N 0.063 0.048 -0.987 0.334 T 0.000 0.000 T . . . -1.561 0.015 0.002 0.962 0.284 0.076 0.134 N c -1.167 -1.206 0.037 0.143 0.495 0.175 0 0.794 0.177 0.571 0.232 0.784 0.316 0.002 0.151 0.002 0.062 6.431 0.209 . . . 0.5487 0.2079 0.6644 0.5536 0.2801 0.6370 0.6366 0.5932 0.3567 0.4976 0.2128 0.6790 0.5497 0.2859 0.6190 0.6426 0.5645 het 290.56 28 1 11561593 . G A 290.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.952;DP=28;Dels=0.00;FS=3.674;HRun=0;HaplotypeScore=0.7887;MQ=58.33;MQ0=0;MQRankSum=0.073;QD=10.38;ReadPosRankSum=1.391;VQSLOD=4.9796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:321,0,455 1 11771988 11771988 A G exonic DRAXIN synonymous SNV DRAXIN:NM_198545:exon4:c.A723G:p.L241L 0.097 0.094 0.082 0.066 0.13 0.11 0.1301 0.1037 0.0970 0.0492 0.1620 0.1469 0.1179 0.1335 0.12 0.096 0.13 0.098 0.13 rs17037327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1202 0.0915 0.0899 0.1107 0.0520 0.1455 0.1381 0.1196 0.1259 0.1163 0.0913 0.0993 0.1060 0.0494 0.1453 0.1304 0.1466 het 773.04 61 1 11771988 . A G 773.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.791;DP=61;Dels=0.00;FS=2.178;HRun=0;HaplotypeScore=2.7769;MQ=59.62;MQ0=0;MQRankSum=-0.036;QD=12.67;ReadPosRankSum=-0.137;VQSLOD=6.3076;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,32:61:99:803,0,699 1 11854457 11854457 G A exonic MTHFR synonymous SNV MTHFR:NM_001330358:exon8:c.C1428T:p.F476F,MTHFR:NM_005957:exon8:c.C1305T:p.F435F 0.9 0.66 0.97 1. 1. 1. 0.9697 0.6834 0.9845 0.9990 1 0.9974 0.9845 0.9992 0.89 0.68 1. 0.85 1. rs4846051 . . Benign|Benign not_specified|Neural_tube_defects\x2c_folate-sensitive RCV000153514.4|RCV000293357.1 MedGen|MedGen:OMIM CN169374|C1866558:601634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9755 0.6770 0.9820 0.9850 0.9992 1 0.9984 0.9803 0.9992 0.9091 0.6825 0.9809 0.9768 0.9988 1 0.9992 0.9867 hom 5799.26 194 1 11854457 . G A 5799.26 Mask AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5769;MQ=58.91;MQ0=0;QD=29.89;VQSLOD=8.9623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:5799,442,0 1 11856378 11856378 G A exonic MTHFR nonsynonymous SNV MTHFR:NM_001330358:exon5:c.C788T:p.A263V,MTHFR:NM_005957:exon5:c.C665T:p.A222V 0.25 0.09 0.47 0.3 0.36 0.12 0.3037 0.1124 0.5141 0.3052 0.2227 0.3450 0.3062 0.1409 0.27 0.12 0.35 0.16 0.35 rs1801133 COSM146404;COSM3927609 1(stomach);3(haematopoietic_and_lymphoid_tissue);24(soft_tissue);1(prostate) other|Uncertain significance|other|drug response|drug response|Likely benign|drug response|not provided|Benign MTHFR_deficiency\x2c_thermolabile_type|Gastrointestinal_stromal_tumor|not_provided|cyclophosphamide_response_-_Toxicity/ADR|carboplatin_response_-_Efficacy|Neural_tube_defects\x2c_folate-sensitive|methotrexate_response_-_Dosage\x2c_Efficacy\x2c_Toxicity/ADR|Neoplasm_of_stomach|not_specified RCV000003697.6|RCV000144921.1|RCV000153516.4|RCV000211133.1|RCV000211336.1|RCV000259890.1|RCV000417131.1|RCV000427078.1|RCV000428048.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen|MedGen:OMIM|MedGen|MeSH:MedGen:OMIM:SNOMED_CT|MedGen C1856059|D046152:C0238198:606764:ORPHA44890|CN221809|CN236519|CN236495|C1866558:601634|CN240598|D013274:C0038356:613659:126824007|CN169374 Homocysteine levels . .05 20031578 rs1801133 8E-35 0.002 0.721 D 0.998 0.764 D 0.941 0.759 D 0.000 0.843 D 0.000 0.588 P 2.965 0.855 M -4.03 0.964 D -3.76 0.712 D 0.955 0.952 -1.455 0.000 T 0.000 0.000 T . . . 4.914 0.660 25.0 0.999 0.995 0.980 0.783 D c 0.739 0.658 1.0 0.983 0.722 0.854 0 5.08 0.682 9.137 0.937 1.048 0.713 1.000 0.715 0.530 0.276 17.432 0.874 FAD-linked oxidoreductase-like ENSG00000242349.1 Nerve_Tibial 0.3143 0.1055 0.5031 0.4572 0.2937 0.2300 0.3397 0.3254 0.1444 0.2572 0.1131 0.4845 0.4470 0.2866 0.2351 0.3265 0.2633 het 2598.71 239 1 11856378 . G A 2598.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.571;DP=239;DS;Dels=0.00;FS=2.975;HRun=0;HaplotypeScore=7.9562;MQ=59.34;MQ0=0;MQRankSum=1.340;QD=10.87;ReadPosRankSum=0.229;VQSLOD=4.5684;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,101:239:99:2629,0,3877 1 11884555 11884555 A G exonic CLCN6 nonsynonymous SNV CLCN6:NM_001256959:exon7:c.A527G:p.E176G,CLCN6:NM_001286:exon8:c.A593G:p.E198G 1. 1. 1. 1. 1. 1. 0.9994 0.9997 0.9996 1 1 0.9990 0.9989 1 1. 1. 1. 1. 0.79 rs198400 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.000 0.843 N 0.883 0.280 P -3.9 0.000 N 0.63 0.531 T 7.57 0.000 N 0.335 0.436 -0.910 0.469 T 0.000 0.000 T . . . 1.519 0.245 13.41 0.740 0.102 0.207 0.209 N c -0.991 -0.593 1.000 0.747 0.461 0.090 0 5.79 0.917 7.784 0.842 0.138 0.222 1.000 0.715 0.988 0.529 14.207 0.651 Chloride channel\x2c core . . 0.9994 0.9997 0.9997 1 1 1 0.9989 0.9996 0.9999 0.9997 0.9999 0.9988 1 1 1 0.9995 0.9990 hom 3851.55 124 1 11884555 . A G 3851.55 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4734;MQ=58.46;MQ0=0;QD=31.06;VQSLOD=7.8971;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3851,295,0 1 12024235 12024235 C T exonic PLOD1 synonymous SNV PLOD1:NM_000302:exon12:c.C1206T:p.N402N,PLOD1:NM_001316320:exon13:c.C1347T:p.N449N 0.35 0.27 0.35 0.38 0.32 0.45 0.3631 0.2908 0.3748 0.3933 0.5194 0.3325 0.3987 0.4434 0.31 0.29 0.32 0.37 0.2 rs1130529 COSM3996784;COSM3996785 2(haematopoietic_and_lymphoid_tissue);2(thyroid) Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_hydroxylysine-deficient RCV000252620.3|RCV000350343.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268342:225400:ORPHA1900:25606004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3624 0.2925 0.3687 0.2219 0.3874 0.5038 0.3279 0.3640 0.4443 0.3530 0.2900 0.3636 0.2351 0.3990 0.5020 0.3484 0.4018 het 3151.38 244 1 12024235 . C T 3151.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.043;DP=244;DS;Dels=0.00;FS=6.254;HRun=0;HaplotypeScore=4.2434;MQ=59.28;MQ0=0;MQRankSum=0.826;QD=12.92;ReadPosRankSum=-0.892;VQSLOD=4.6730;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,119:244:99:3181,0,3074 1 12082926 12082926 A G exonic MIIP nonsynonymous SNV MIIP:NM_021933:exon4:c.A499G:p.K167E 0.67 0.8 0.6 0.55 0.73 0.61 0.7058 0.7973 0.5936 0.5744 0.8337 0.7297 0.7094 0.6438 0.74 0.79 0.71 0.67 0.58 rs2295283 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.201 0.166 N 1 0.090 P -1.545 0.005 N 2.68 0.124 T 1.84 0.005 N 0.016 0.003 -1.010 0.268 T 0.000 0.000 T . . . -0.850 0.038 0.033 0.725 0.097 0.006 0.028 N c -1.499 -1.351 1.000 0.517 0.707 0.730 0 1.47 0.217 2.408 0.440 0.038 0.153 0.682 0.282 0.019 0.132 5.711 0.171 . ENSG00000116688.12|ENSG00000116688.12|ENSG00000116688.12|ENSG00000083444.12|ENSG00000116688.12|ENSG00000116691.6 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Whole_Blood|Whole_Blood|Whole_Blood 0.6826 0.7910 0.5676 0.6075 0.5499 0.8228 0.7173 0.6921 0.6279 0.7440 0.7845 0.6098 0.5993 0.5762 0.8246 0.7310 0.7320 het 800.59 44 1 12082926 . A G 800.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=44;Dels=0.00;FS=1.306;HRun=0;HaplotypeScore=3.8277;MQ=59.48;MQ0=0;MQRankSum=-0.920;QD=18.20;ReadPosRankSum=0.391;VQSLOD=5.3199;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,30:44:99:831,0,345 1 12164437 12164437 C T exonic TNFRSF8 synonymous SNV TNFRSF8:NM_001243:exon4:c.C270T:p.D90D 0.29 0.21 0.38 0.33 0.23 0.37 0.2802 0.2045 0.4358 0.3293 0.2580 0.2353 0.2881 0.3833 0.23 0.22 0.24 0.28 0.31 rs2230622 COSM4142271 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2876 0.2039 0.4144 0.3002 0.3346 0.2566 0.2332 0.2743 0.3823 0.2394 0.1967 0.3616 0.2881 0.3420 0.2524 0.2403 0.2706 het 1698.63 146 1 12164437 . C T 1698.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.825;DP=146;Dels=0.00;FS=6.188;HRun=0;HaplotypeScore=3.3274;MQ=58.90;MQ0=0;MQRankSum=0.216;QD=11.63;ReadPosRankSum=-0.924;VQSLOD=5.1206;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,70:146:99:1729,0,1857 1 12175729 12175729 C T exonic TNFRSF8 nonsynonymous SNV TNFRSF8:NM_001281430:exon7:c.C556T:p.R186C,TNFRSF8:NM_001243:exon8:c.C889T:p.R297C 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 0.9999 1 1 . . . 1. 1. rs1763642 COSM4142272 1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 hom 5170.96 153 1 12175729 . C T 5170.96 Mask AC=2;AF=1.00;AN=2;DP=153;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8725;MQ=59.55;MQ0=0;QD=33.80;VQSLOD=8.2705;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5170,418,0 1 12248942 12248942 A G exonic TNFRSF1B synonymous SNV TNFRSF1B:NM_001066:exon2:c.A168G:p.K56K 0.2 0.2 0.13 0.15 0.21 0.27 0.2248 0.2171 0.1198 0.1608 0.2043 0.2454 0.2283 0.2622 0.24 0.22 0.24 0.16 0.17 rs945439 COSM3747514 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2157 0.2183 0.1193 0.2688 0.1564 0.1983 0.2390 0.2171 0.2633 0.2184 0.2139 0.1587 0.2947 0.1646 0.2038 0.2321 0.2194 het 668.69 70 1 12248942 . A G 668.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.256;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=-0.977;QD=9.55;ReadPosRankSum=0.290;VQSLOD=6.2140;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,27:70:99:699,0,1138 1 12252955 12252955 T G exonic TNFRSF1B nonsynonymous SNV TNFRSF1B:NM_001066:exon6:c.T587G:p.M196R 0.19 0.19 0.13 0.15 0.22 0.28 0.2249 0.2049 0.1171 0.1575 0.2408 0.2447 0.2337 0.2613 0.23 0.21 0.24 0.16 0.21 rs1061622 COSM146406 1(stomach);1(liver) . . . . . . . . . . . 0.255 0.168 T 0.0 0.026 B 0.001 0.040 B 0.217 0.034 N 1 0.090 P 0.3 0.102 N 0.18 0.604 T -0.4 0.138 N 0.068 0.055 -1.075 0.084 T 0.000 0.000 T . . . 0.369 0.130 6.341 0.836 0.143 0.038 0.091 N c -1.150 -1.183 1.000 0.439 0.707 0.730 0 -4.13 0.036 -1.605 0.022 -0.265 0.087 0.000 0.063 0.971 0.463 7.083 0.243 TNFR/NGFR cysteine-rich region . . 0.2167 0.2080 0.1188 0.2692 0.1547 0.2260 0.2379 0.2201 0.2624 0.2194 0.2036 0.1527 0.2947 0.1611 0.2336 0.2333 0.2279 het 804.82 67 1 12252955 . T G 804.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.089;DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9779;MQ=58.96;MQ0=0;MQRankSum=0.985;QD=12.01;ReadPosRankSum=-1.307;VQSLOD=6.3332;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,31:67:99:835,0,984 1 12336147 12336147 T C exonic VPS13D synonymous SNV VPS13D:NM_015378:exon19:c.T2502C:p.N834N,VPS13D:NM_018156:exon19:c.T2502C:p.N834N 0.027 0.08 0.014 . 0.0099 0.0082 0.0189 0.0769 0.0089 0 0.0209 0.0170 0.0110 0.0064 0.04 0.079 0.019 0.043 0.0082 rs7546794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0178 0.0771 0.0096 0.0431 0 0.0170 0.0160 0.0175 0.0061 0.0340 0.0802 0.0072 0.0530 0 0.0215 0.0162 0.0143 het 1068.88 77 1 12336147 . T C 1068.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.775;DP=77;Dels=0.00;FS=7.921;HRun=0;HaplotypeScore=2.8729;MQ=60.00;MQ0=0;MQRankSum=-2.338;QD=13.88;ReadPosRankSum=0.572;VQSLOD=3.3319;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,39:77:99:1099,0,1014 1 12389953 12389953 T C exonic VPS13D synonymous SNV VPS13D:NM_015378:exon37:c.T8265C:p.D2755D,VPS13D:NM_018156:exon37:c.T8265C:p.D2755D 0.022 0.063 0.014 . 0.0099 0.0082 0.0176 0.0643 0.0080 0.0001 0.0209 0.0168 0.0088 0.0064 0.035 0.065 0.019 0.022 0.0082 rs79566132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0166 0.0625 0.0083 0.0427 0 0.0170 0.0159 0.0162 0.0061 0.0287 0.0617 0.0072 0.0530 0 0.0215 0.0159 0.0153 het 998.86 78 1 12389953 . T C 998.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.877;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.74;MQ0=0;MQRankSum=0.490;QD=12.81;ReadPosRankSum=2.478;VQSLOD=5.1524;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,39:78:99:1029,0,962 1 12401868 12401868 A C exonic VPS13D synonymous SNV VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P 0.8 0.74 0.76 0.9 0.79 0.8 0.7910 0.7549 0.6982 0.9027 0.7486 0.8004 0.7985 0.7992 0.79 0.76 0.8 0.86 0.85 rs28551666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7873 0.7495 0.7078 0.7749 0.8958 0.7599 0.8023 0.7935 0.8002 0.7863 0.7572 0.7151 0.7517 0.8861 0.7575 0.8033 0.7959 hom 5335.58 173 1 12401868 . A C 5335.58 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8633;MQ=59.10;MQ0=0;QD=30.84;VQSLOD=9.3223;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5335,406,0 1 12638964 12638964 T C exonic DHRS3 synonymous SNV DHRS3:NM_001319225:exon4:c.A225G:p.P75P,DHRS3:NM_001324370:exon4:c.A225G:p.P75P,DHRS3:NM_004753:exon4:c.A480G:p.P160P 0.8 0.8 0.73 0.73 0.85 0.9 0.8314 0.8238 0.6487 0.7254 0.8293 0.8620 0.8314 0.8962 0.85 0.83 0.86 0.77 0.74 rs2275875 COSM5438334 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8213 0.8216 0.6558 0.8430 0.7250 0.8283 0.8620 0.8247 0.8965 0.8345 0.8233 0.7033 0.8377 0.7407 0.8222 0.8612 0.8340 het 549.91 48 1 12638964 . T C 549.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.134;DP=48;Dels=0.00;FS=2.541;HRun=0;HaplotypeScore=2.7312;MQ=59.13;MQ0=0;MQRankSum=0.010;QD=11.46;ReadPosRankSum=0.362;VQSLOD=6.5575;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,22:48:99:580,0,673 1 12776344 12776344 A T exonic AADACL3 unknown UNKNOWN 0.66 0.4 0.85 0.62 0.82 0.74 0.7779 0.4753 0.8512 0.6424 0.8051 0.8290 0.7956 0.7585 0.73 0.51 0.83 0.65 0.8 rs3000859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7834 0.4677 0.8418 0.7726 0.6398 0.8118 0.8332 0.7935 0.7576 0.7158 0.4731 0.8266 0.7980 0.6132 0.8224 0.8309 0.7806 het 1576.11 145 1 12776344 . A T 1576.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.579;DP=145;Dels=0.00;FS=3.052;HRun=1;HaplotypeScore=8.4126;MQ=59.26;MQ0=0;MQRankSum=-0.398;QD=10.87;ReadPosRankSum=0.194;VQSLOD=3.7045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,62:145:99:1606,0,2030 1 12779560 12779560 T C exonic AADACL3 unknown UNKNOWN 0.85 0.92 0.88 0.78 0.83 0.82 0.8328 0.9124 0.8897 0.7770 0.7746 0.8260 0.8333 0.8257 0.86 0.91 0.83 0.94 0.81 rs3010876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8343 0.9130 0.8891 0.8605 0.7728 0.7796 0.8271 0.8296 0.8280 0.8377 0.9116 0.8795 0.8510 0.7608 0.7837 0.8148 0.8084 hom 5433.95 160 1 12779560 . T C 5433.95 Mask AC=2;AF=1.00;AN=2;DP=160;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8606;MQ=59.62;MQ0=0;QD=33.96;VQSLOD=9.9990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5433,427,0 1 12779618 12779618 T C exonic AADACL3 unknown UNKNOWN 0.85 0.92 0.88 0.78 0.83 0.82 0.8317 0.9100 0.8889 0.7768 0.7753 0.8244 0.8333 0.8253 0.86 0.92 0.83 0.94 0.81 rs3010877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8329 0.9102 0.8878 0.8606 0.7728 0.7799 0.8249 0.8285 0.8276 0.8355 0.9088 0.8747 0.8510 0.7623 0.7841 0.8123 0.8045 hom 4399.39 128 1 12779618 . T C 4399.39 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=34.37;VQSLOD=9.4852;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4399,343,0 1 12785494 12785494 G T exonic AADACL3 unknown UNKNOWN 0.68 0.48 0.78 0.78 0.73 0.73 0.7182 0.5227 0.8252 0.78 0.6973 0.7210 0.7133 0.7240 0.67 0.52 0.73 0.74 0.7 rs7513079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7262 0.5198 0.8206 0.7732 0.7759 0.6928 0.7223 0.7103 0.7240 0.6590 0.5124 0.8026 0.7748 0.7674 0.6984 0.7123 0.6694 hom 5416.84 166 1 12785494 . G T 5416.84 Mask AC=2;AF=1.00;AN=2;DP=166;DS;Dels=0.00;FS=0.000;HRun=7;HaplotypeScore=6.4303;MQ=59.37;MQ0=0;QD=32.63;VQSLOD=7.1851;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5416,433,0 1 12820870 12820870 T C exonic C1orf158 nonsynonymous SNV C1orf158:NM_001330361:exon3:c.T457C:p.F153L,C1orf158:NM_152290:exon4:c.T571C:p.F191L 0.82 0.92 0.85 0.78 0.79 0.76 0.7952 0.9006 0.8652 0.7792 0.7596 0.7789 0.7909 0.7681 0.82 0.89 0.79 0.91 0.72 rs1132185 COSM5424326 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7964 0.9005 0.8621 0.8192 0.7750 0.7654 0.7788 0.7816 0.7663 0.8099 0.8963 0.8413 0.8046 0.7636 0.7722 0.7747 0.7648 hom 3577.14 109 1 12820870 . T C 3577.14 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4394;MQ=59.58;MQ0=0;QD=32.82;VQSLOD=8.8097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3577,280,0 1 12835868 12835868 T C exonic PRAMEF12 nonsynonymous SNV PRAMEF12:NM_001080830:exon2:c.T470C:p.M157T 0.72 0.57 0.82 0.72 0.8 0.75 0.7739 0.6069 0.8468 0.7309 0.7790 0.7955 0.7764 0.7606 0.74 0.61 0.8 0.74 0.8 rs1812242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7806 0.6014 0.8420 0.8622 0.7282 0.7731 0.7947 0.7765 0.7612 0.7257 0.5975 0.8067 0.8433 0.7146 0.7682 0.7830 0.7464 hom 5298.88 171 1 12835868 . T C 5298.88 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.29;MQ0=0;QD=30.99;VQSLOD=9.1062;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5298,433,0 1 12837634 12837634 T A exonic PRAMEF12 synonymous SNV PRAMEF12:NM_001080830:exon3:c.T1344A:p.I448I 0.66 0.37 0.81 0.72 0.8 0.76 0.7635 0.4233 0.8431 0.7331 0.7841 0.8049 0.7759 0.7620 0.68 0.43 0.81 0.63 0.81 rs848578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7798 0.4188 0.8395 0.8657 0.7372 0.7844 0.8112 0.7802 0.7729 0.6806 0.4193 0.8058 0.8523 0.7204 0.7753 0.7929 0.7361 hom 5850.40 176 1 12837634 . T A 5850.40 Mask AC=2;AF=1.00;AN=2;DP=176;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9925;MQ=59.50;MQ0=0;QD=33.24;VQSLOD=8.9422;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:176:99:5819,469,0 1 12854530 12854530 C G exonic PRAMEF1 nonsynonymous SNV PRAMEF1:NM_023013:exon3:c.C754G:p.Q252E 0.87 0.93 0.89 0.8 0.86 0.84 0.8553 0.9125 0.8941 0.7989 0.8470 0.8538 0.8642 0.8301 0.87 0.91 0.86 0.043 0.84 rs1063776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8567 0.9110 0.8900 0.9231 0.7990 0.8444 0.8518 0.8544 0.8307 0.8687 0.9118 0.8699 0.9020 0.7932 0.8445 0.8580 0.8423 hom 7697.13 245 1 12854530 . C G 7697.13 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8892;MQ=51.08;MQ0=10;QD=31.42;VQSLOD=3.1488;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:7695,653,0 1 13940864 13940864 C G exonic PDPN nonsynonymous SNV PDPN:NM_001006624:exon5:c.C314G:p.A105G,PDPN:NM_001006625:exon5:c.C314G:p.A105G,PDPN:NM_006474:exon5:c.C668G:p.A223G,PDPN:NM_198389:exon5:c.C668G:p.A223G 0.98 1. 0.99 1. 0.93 0.99 0.9552 0.9929 0.9891 0.9999 0.8669 0.9386 0.9482 0.9872 0.97 0.99 0.95 1. 0.95 rs2486188 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.018 0.275 N 1 0.090 P -1.935 0.002 N 2.71 0.121 T 4.97 0.001 N 0.086 0.089 -0.947 0.415 T 0.000 0.000 T . . . 1.587 0.252 13.78 0.289 0.015 0.019 0.058 N c -0.953 -0.685 0.077 0.158 0.707 0.730 0 5.93 0.959 0.775 0.262 0.136 0.221 0.977 0.347 0.043 0.159 13.370 0.600 . . . 0.9558 0.9936 0.9870 0.9684 0.9999 0.8620 0.9435 0.9513 0.9876 0.9492 0.9932 0.9880 0.9669 1 0.8626 0.9380 0.9134 het 1837.76 192 1 13940864 . C G 1837.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.789;DP=192;Dels=0.00;FS=0.548;HRun=1;HaplotypeScore=8.5136;MQ=58.87;MQ0=0;MQRankSum=-1.087;QD=9.57;ReadPosRankSum=0.805;VQSLOD=3.0545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,79:192:99:1868,0,2770 1 14109319 14109319 G A exonic PRDM2 nonsynonymous SNV PRDM2:NM_001007257:exon3:c.G4426A:p.D1476N,PRDM2:NM_012231:exon8:c.G5029A:p.D1677N,PRDM2:NM_015866:exon8:c.G5029A:p.D1677N . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.114 0.286 T 0.999 0.764 D 0.879 0.662 P 0.000 0.843 D 1.000 0.810 D 0.975 0.246 L 4.61 0.021 T -1.18 0.309 N 0.145 0.179 -0.640 0.632 T 0.013 0.052 T 0.023 0.458 T 3.503 0.479 23.1 0.997 0.829 0.988 0.864 D c 0.648 0.747 1.0 0.983 0.632 0.406 0 6.07 0.987 9.352 0.965 1.048 0.713 1.000 0.715 1.000 0.888 19.208 0.937 Zinc finger\x2c C2H2 . . . . . . . . . . . . . . . . . . . het 718.95 49 1 14109319 . G A 718.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.737;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;MQRankSum=-0.273;QD=14.67;ReadPosRankSum=0.515;VQSLOD=4.7500;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,28:49:99:749,0,506 1 14143003 14143003 A G exonic PRDM2 nonsynonymous SNV PRDM2:NM_001135610:exon7:c.A593G:p.Q198R 0.82 0.93 0.86 0.71 0.86 0.73 0.8256 0.9304 0.8019 0.7162 0.8166 0.8451 0.8381 0.7571 0.87 0.93 0.84 0.81 0.84 rs1046331 COSM5021264;COSM5021263 1(bone) . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 0.56 0.546 T -0.75 0.740 N . . -1.038 0.180 T 0.000 0.000 T . . . 0.129 0.106 3.917 0.594 0.061 0.002 0.010 N c -1.464 -1.534 0.016 0.129 0.706 0.609 0 -4.33 0.034 -1.752 0.019 -0.876 0.028 0.000 0.063 0.332 0.243 7.200 0.249 . . . 0.8223 0.9294 0.8103 0.8044 0.7117 0.8157 0.8487 0.8349 0.7570 0.8594 0.9377 0.8067 0.7748 0.6968 0.8144 0.8477 0.8388 hom 3124.46 104 1 14143003 . A G 3124.46 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6628;MQ=59.60;MQ0=0;QD=30.04;VQSLOD=8.3682;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:104:99:3157,259,0 1 15438990 15438990 G A exonic KAZN nonsynonymous SNV KAZN:NM_201628:exon14:c.G2116A:p.A706T 0.44 0.26 0.44 0.66 0.4 0.51 0.4799 0.3171 0.6221 0.6988 0.4808 0.4344 0.4778 0.5336 0.36 0.28 0.4 0.49 . rs10803354 COSM3747562;COSM3747563 1(liver);1(large_intestine) . . . . . . . . . . . 0.243 0.175 T 0.001 0.067 B 0.002 0.063 B 0.118 0.191 N 0.985 0.247 P 1.79 0.469 L 2.24 0.179 T -0.19 0.100 N 0.054 0.036 -1.025 0.220 T 0.000 0.000 T . . . 2.285 0.336 18.07 0.987 0.439 0.363 0.253 N c -0.338 -0.162 1.000 0.489 0.516 0.207 1 3.61 0.403 1.583 0.360 1.044 0.665 0.998 0.411 0.181 0.213 6.379 0.206 . . . 0.4534 0.2751 0.5783 0.4397 0.6870 0.4299 0.3942 0.4286 0.5057 0.4055 0.2878 0.5617 0.4555 0.7095 0.4368 0.4194 0.4629 hom 283.61 10 1 15438990 . G A 283.61 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=28.36;VQSLOD=8.3438;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:317,27,0 1 15789297 15789297 A C exonic CELA2A synonymous SNV CELA2A:NM_033440:exon4:c.A297C:p.A99A 0.4 0.68 0.32 0.23 0.32 0.34 0.3399 0.6126 0.2717 0.2393 0.2472 0.3276 0.3458 0.3552 0.43 0.61 0.33 0.38 0.29 rs3815787 COSM301916 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3301 0.6150 0.2731 0.4493 0.2393 0.2453 0.3206 0.3527 0.3552 0.3832 0.6122 0.3055 0.4564 0.2287 0.2451 0.3071 0.3074 hom 3991.88 124 1 15789297 . A C 3991.88 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5578;MQ=58.67;MQ0=0;QD=32.19;VQSLOD=8.2689;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3991,322,0 1 15812432 15812432 A G exonic CELA2B nonsynonymous SNV CELA2B:NM_015849:exon6:c.A530G:p.Q177R 0.99 0.98 0.99 1. 1. 1. 0.9982 0.9821 0.9986 0.9995 1 0.9999 0.9989 0.9998 0.99 0.98 1. 1. 1. rs6429745 . . . . . . . . . . . . . 0.379 0.112 T 0.0 0.026 B 0.0 0.013 B 0.305 0.145 N 1 0.090 P -0.14 0.045 N -2.38 0.883 D 1.23 0.010 N 0.01 0.137 -0.971 0.370 T 0.000 0.000 T . . . -0.274 0.070 0.762 0.880 0.171 0.043 0.098 N c -1.503 -1.494 0.012 0.123 0.428 0.059 0 -2.83 0.054 -1.209 0.031 -0.001 0.135 0.000 0.063 0.562 0.282 0.461 0.005 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9984 0.9803 0.9979 1 0.9998 1 0.9999 0.9998 0.9997 0.9947 0.9819 0.9964 1 0.9994 0.9997 1 1 hom 8020.08 250 1 15812432 . A G 8020.08 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4440;MQ=59.48;MQ0=0;QD=32.08;VQSLOD=9.2452;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8019,671,0 1 16056364 16056364 G A exonic PLEKHM2 synonymous SNV PLEKHM2:NM_015164:exon14:c.G2148A:p.T716T 0.31 0.71 0.26 0.044 0.21 0.17 0.2415 0.6578 0.1754 0.0453 0.1694 0.2289 0.2528 0.2222 0.35 0.62 0.23 0.34 . rs3817269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2305 0.6578 0.1855 0.2655 0.0442 0.1650 0.2262 0.2476 0.2201 0.3334 0.6667 0.2220 0.2483 0.0451 0.1740 0.2232 0.2159 het 1026.99 73 1 16056364 . G A 1026.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.393;DP=73;Dels=0.00;FS=7.940;HRun=0;HaplotypeScore=3.8279;MQ=59.17;MQ0=0;MQRankSum=-0.197;QD=14.07;ReadPosRankSum=0.998;VQSLOD=4.8117;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,38:73:99:1057,0,949 1 16069644 16069644 C T exonic TMEM82 synonymous SNV TMEM82:NM_001013641:exon3:c.C291T:p.L97L 0.19 0.23 0.17 0.034 0.29 0.18 0.2340 0.2198 0.1521 0.0360 0.2170 0.2767 0.2650 0.2389 0.25 0.21 0.28 0.2 0.25 rs11584945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2273 0.2123 0.1581 0.3221 0.0333 0.1999 0.2746 0.2554 0.2345 0.2311 0.2147 0.1969 0.3377 0.0247 0.2038 0.2688 0.2387 het 430.16 43 1 16069644 . C T 430.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.188;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=2.622;QD=10.00;ReadPosRankSum=-1.982;VQSLOD=9.0380;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,18:43:99:460,0,582 1 16096934 16096934 C T exonic FBLIM1 nonsynonymous SNV FBLIM1:NM_001024216:exon4:c.C281T:p.S94F,FBLIM1:NM_001024215:exon5:c.C572T:p.S191F,FBLIM1:NM_017556:exon6:c.C572T:p.S191F,FBLIM1:NM_001350151:exon7:c.C572T:p.S191F 0.64 0.38 0.69 0.83 0.65 0.76 0.6816 0.4195 0.7554 0.8033 0.6219 0.6895 0.6493 0.7246 0.62 0.43 0.71 0.6 0.63 rs10927851 COSM3750523;COSM3750522 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.766 0.386 T 0.996 0.689 D 0.916 0.634 D 0.059 0.223 N 0.146 0.391 P 0.875 0.216 L 0.93 0.441 T -2.34 0.672 N 0.332 0.396 -1.081 0.071 T 0.000 0.000 T . . . 6.698 0.916 32 0.998 0.858 0.981 0.797 D c 0.398 0.444 1.000 0.747 0.672 0.522 0 5.24 0.728 3.730 0.545 0.888 0.391 1.000 0.715 0.996 0.625 14.607 0.679 Zinc finger\x2c LIM-type . . 0.6883 0.4162 0.7576 0.5612 0.8049 0.6245 0.7003 0.6723 0.7282 0.6206 0.4192 0.7271 0.5728 0.8149 0.6380 0.7049 0.6660 het 1781.97 149 1 16096934 . C T 1781.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.439;DP=149;Dels=0.00;FS=2.145;HRun=1;HaplotypeScore=2.2859;MQ=59.19;MQ0=1;MQRankSum=2.490;QD=11.96;ReadPosRankSum=-0.693;VQSLOD=5.0239;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,72:149:99:1812,0,1899 1 16101217 16101217 C T exonic FBLIM1 synonymous SNV FBLIM1:NM_001024216:exon5:c.C525T:p.C175C,FBLIM1:NM_001024215:exon6:c.C816T:p.C272C,FBLIM1:NM_017556:exon7:c.C816T:p.C272C,FBLIM1:NM_001350151:exon8:c.C816T:p.C272C 0.055 0.045 0.085 . 0.12 0.035 0.0760 0.0499 0.0516 0.0010 0.0838 0.1025 0.0784 0.0388 0.078 0.051 0.092 0.076 0.098 rs41268337 COSM3750524;COSM3750525 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0752 0.0448 0.0555 0.1242 0.0009 0.0814 0.1008 0.0866 0.0387 0.0684 0.0468 0.0656 0.1523 0.0012 0.0799 0.0835 0.0777 het 2185.09 208 1 16101217 . C T 2185.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DP=208;Dels=0.00;FS=5.912;HRun=0;HaplotypeScore=0.9867;MQ=58.75;MQ0=0;MQRankSum=1.924;QD=10.51;ReadPosRankSum=-0.775;VQSLOD=4.1337;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,86:208:99:2215,0,3196 1 16256007 16256007 T C exonic SPEN nonsynonymous SNV SPEN:NM_015001:exon11:c.T3272C:p.L1091P 0.65 0.98 0.71 0.32 0.56 0.59 0.6154 0.9195 0.7683 0.3288 0.6043 0.5770 0.6018 0.6278 0.69 0.91 0.58 0.59 0.41 rs848209 COSM4142934 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.846 0.028 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -0.895 0.014 N 3.2 0.073 T 0.6 0.025 N 0.012 0.012 -1.030 0.206 T 0.000 0.000 T . . . -0.797 0.040 0.043 0.776 0.115 0.020 0.059 N c -1.030 -0.892 0.097 0.163 0.707 0.730 0 3.51 0.391 1.064 0.300 -0.302 0.080 0.124 0.230 0.197 0.217 11.158 0.475 . ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7 Artery_Aorta|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid 0.6159 0.9253 0.7545 0.6131 0.3282 0.6082 0.5749 0.6194 0.6276 0.6713 0.9243 0.7584 0.61 0.2983 0.6105 0.5802 0.5867 het 634.25 58 1 16256007 . T C 634.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.041;DP=58;Dels=0.00;FS=2.243;HRun=1;HaplotypeScore=0.9916;MQ=59.36;MQ0=0;MQRankSum=0.122;QD=10.94;ReadPosRankSum=-0.155;VQSLOD=6.8665;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,24:58:99:664,0,899 1 16259813 16259813 A G exonic SPEN nonsynonymous SNV SPEN:NM_015001:exon11:c.A7078G:p.N2360D 0.65 0.98 0.71 0.32 0.56 0.59 0.6146 0.9193 0.7674 0.3278 0.6050 0.5760 0.6020 0.6270 0.69 0.91 0.58 0.61 0.69 rs848210 COSM4142938 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.853 0.027 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.625 0.021 N 3.13 0.080 T 0.77 0.020 N 0.001 0.000 -1.042 0.168 T 0.000 0.000 T . . . -1.105 0.028 0.010 0.538 0.049 0.094 0.150 N c -1.237 -1.093 0.230 0.184 0.707 0.730 0 3.1 0.346 3.586 0.534 0.076 0.183 0.665 0.281 0.006 0.095 7.596 0.271 . ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7 Artery_Aorta|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid 0.6160 0.9254 0.7544 0.6132 0.3282 0.6086 0.5750 0.6205 0.6272 0.6706 0.9239 0.7590 0.6033 0.2976 0.6101 0.5793 0.5866 het 1229.48 110 1 16259813 . A G 1229.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.635;DP=110;Dels=0.00;FS=9.439;HRun=0;HaplotypeScore=2.9912;MQ=59.24;MQ0=0;MQRankSum=-1.058;QD=11.18;ReadPosRankSum=0.641;VQSLOD=4.3830;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,47:110:99:1259,0,1766 1 16260606 16260606 G A exonic SPEN nonsynonymous SNV SPEN:NM_015001:exon11:c.G7871A:p.R2624Q . . . . . . 0.0003 0 0 0 0 0.0004 0.0022 6.104e-05 0.0002 . 0.0003 . . rs200512596 COSM4024565 1(stomach) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.994 0.807 D . . . 1.000 0.530 D 1.79 0.469 L 2.35 0.162 T -1.31 0.328 N 0.615 0.637 -1.094 0.048 T 0.110 0.397 T 0.017 0.392 T 6.762 0.922 32 0.999 0.940 0.982 0.803 D c 0.697 0.689 1.000 0.747 0.707 0.730 0 5.24 0.728 7.464 0.798 1.048 0.713 1.000 0.715 0.990 0.544 18.818 0.920 . . . 0.0002 0 0 0 0 4.489e-05 0.0004 0 3.257e-05 0.0003 0.0001 0 0 0 0.0003 0.0004 0 het 2893.81 190 1 16260606 . G A 2893.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.310;DP=190;Dels=0.00;FS=0.541;HRun=0;HaplotypeScore=4.9852;MQ=59.09;MQ0=0;MQRankSum=0.131;QD=15.23;ReadPosRankSum=-1.425;VQSLOD=3.5290;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,106:190:99:2924,0,1998 1 16272250 16272250 A G exonic ZBTB17 synonymous SNV ZBTB17:NM_001242884:exon5:c.T375C:p.A125A,ZBTB17:NM_001324137:exon5:c.T393C:p.A131A,ZBTB17:NM_001324138:exon5:c.T432C:p.A144A,ZBTB17:NM_001287603:exon6:c.T621C:p.A207A,ZBTB17:NM_001287604:exon6:c.T393C:p.A131A,ZBTB17:NM_003443:exon6:c.T621C:p.A207A 0.48 0.47 0.63 0.32 0.5 0.54 0.5232 0.4727 0.7181 0.3291 0.5210 0.5075 0.5150 0.5811 0.48 0.46 0.49 0.45 0.52 rs848217 COSM5425001;COSM3930473;COSM1747901;COSM1747902 1(haematopoietic_and_lymphoid_tissue);7(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5310 0.4693 0.7009 0.5844 0.3299 0.5266 0.5005 0.5325 0.5819 0.4920 0.4741 0.6909 0.5728 0.2996 0.5382 0.4991 0.4990 het 664.96 70 1 16272250 . A G 664.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.329;DP=70;Dels=0.00;FS=4.946;HRun=1;HaplotypeScore=3.4691;MQ=59.34;MQ0=0;MQRankSum=0.837;QD=9.50;ReadPosRankSum=0.902;VQSLOD=4.9315;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,28:70:99:695,0,1005 1 16342237 16342237 A G exonic HSPB7 synonymous SNV HSPB7:NM_001349683:exon3:c.T363C:p.T121T,HSPB7:NM_001349685:exon3:c.T333C:p.T111T,HSPB7:NM_001349687:exon3:c.T336C:p.T112T,HSPB7:NM_001349688:exon3:c.T348C:p.T116T,HSPB7:NM_001349689:exon3:c.T366C:p.T122T,HSPB7:NM_014424:exon3:c.T351C:p.T117T,HSPB7:NM_001349682:exon4:c.T576C:p.T192T 0.65 0.72 0.46 0.76 0.59 0.64 0.5938 0.7044 0.3760 0.7423 0.5752 0.5930 0.6024 0.6121 0.62 0.7 0.59 0.69 0.44 rs1739840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5787 0.7045 0.3917 0.5170 0.7526 0.5691 0.5939 0.5721 0.5933 0.6276 0.7075 0.4200 0.5563 0.7932 0.5562 0.5932 0.6227 het 1482.14 103 1 16342237 . A G 1482.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.792;DP=103;Dels=0.00;FS=1.747;HRun=1;HaplotypeScore=2.7040;MQ=59.40;MQ0=0;MQRankSum=1.679;QD=14.39;ReadPosRankSum=-0.433;VQSLOD=5.9636;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,58:103:99:1512,0,1295 1 16344360 16344360 A G exonic HSPB7 synonymous SNV HSPB7:NM_001349683:exon1:c.T99C:p.A33A,HSPB7:NM_001349685:exon1:c.T99C:p.A33A,HSPB7:NM_001349686:exon1:c.T99C:p.A33A,HSPB7:NM_001349687:exon1:c.T99C:p.A33A,HSPB7:NM_001349688:exon1:c.T99C:p.A33A,HSPB7:NM_001349689:exon1:c.T99C:p.A33A,HSPB7:NM_014424:exon1:c.T99C:p.A33A 0.65 0.71 0.46 0.76 0.59 0.64 0.5893 0.6905 0.3768 0.7401 0.5837 0.5903 0.5979 0.5926 0.62 0.68 0.59 0.65 0.34 rs732286 COSM5428072;COSM5428071 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5750 0.6889 0.3910 0.5108 0.7515 0.5669 0.5915 0.5694 0.5897 0.6239 0.6927 0.4189 0.5563 0.7920 0.5565 0.5944 0.6214 het 658.06 37 1 16344360 . A G 658.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.799;DP=37;Dels=0.00;FS=3.278;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.830;QD=17.79;ReadPosRankSum=-0.423;VQSLOD=5.1023;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,23:37:99:688,0,318 1 16344402 16344402 G A exonic HSPB7 synonymous SNV HSPB7:NM_001349683:exon1:c.C57T:p.S19S,HSPB7:NM_001349685:exon1:c.C57T:p.S19S,HSPB7:NM_001349686:exon1:c.C57T:p.S19S,HSPB7:NM_001349687:exon1:c.C57T:p.S19S,HSPB7:NM_001349688:exon1:c.C57T:p.S19S,HSPB7:NM_001349689:exon1:c.C57T:p.S19S,HSPB7:NM_014424:exon1:c.C57T:p.S19S 0.65 0.71 0.46 0.76 0.59 0.64 0.5885 0.6896 0.3758 0.7420 0.5779 0.5900 0.5978 0.5908 0.62 0.68 0.58 0.67 . rs945416 COSM5483361;COSM4142947 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5750 0.6884 0.3910 0.5107 0.7512 0.5672 0.5913 0.5693 0.5897 0.6228 0.6911 0.4187 0.5567 0.7907 0.5559 0.5933 0.6235 het 783.48 54 1 16344402 . G A 783.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.805;DP=54;Dels=0.00;FS=5.672;HRun=1;HaplotypeScore=2.7256;MQ=58.37;MQ0=0;MQRankSum=0.035;QD=14.51;ReadPosRankSum=0.647;VQSLOD=5.0704;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,31:54:99:813,0,579 1 16351275 16351275 A G exonic CLCNKA nonsynonymous SNV CLCNKA:NM_001042704:exon4:c.A247G:p.R83G,CLCNKA:NM_004070:exon4:c.A247G:p.R83G 0.64 0.72 0.45 0.77 0.56 0.63 0.5636 0.7042 0.3644 0.7458 0.5317 0.5580 0.5642 0.5549 0.6 0.7 0.55 0.67 0.48 rs10927887 COSM1737823 1(liver);2(central_nervous_system) . . . . . . . . . . . 0.389 0.109 T 0.0 0.026 B 0.0 0.013 B 0.728 0.099 N 1.000 0.242 P 1.385 0.346 L -3.05 0.924 D -0.17 0.096 N 0.056 0.039 -0.919 0.457 T 0.000 0.000 T . . . 0.117 0.105 3.790 0.886 0.175 0.204 0.208 N c -0.925 -0.843 0.014 0.126 0.549 0.223 0 0.872 0.182 0.107 0.151 -1.287 0.014 0.003 0.159 0.826 0.345 7.321 0.255 Chloride channel\x2c core ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000184908.13|ENSG00000173641.13|ENSG00000186510.7 Adipose_Subcutaneous|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Thyroid|Thyroid 0.5497 0.7056 0.3784 0.4636 0.7568 0.5231 0.5600 0.5427 0.5534 0.6030 0.7043 0.3986 0.4967 0.7954 0.5143 0.5592 0.5746 het 1422.42 109 1 16351275 . A G 1422.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.134;DP=109;Dels=0.00;FS=2.660;HRun=3;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;MQRankSum=-0.343;QD=13.05;ReadPosRankSum=0.725;VQSLOD=4.8723;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,57:109:99:1452,0,1447 1 16356501 16356501 G A exonic CLCNKA nonsynonymous SNV CLCNKA:NM_001257139:exon13:c.G1210A:p.A404T,CLCNKA:NM_001042704:exon14:c.G1339A:p.A447T,CLCNKA:NM_004070:exon14:c.G1339A:p.A447T 0.65 0.75 0.45 0.77 0.56 0.63 0.5612 0.7221 0.3629 0.7457 0.5284 0.5529 0.5601 0.5492 0.6 0.71 0.54 0.72 0.42 rs1805152 COSM3747578 2(liver);2(thyroid) . . . . . . . . . . . 0.122 0.276 T 0.006 0.126 B 0.005 0.127 B 0.019 0.272 N 0.984 0.248 P 1.55 0.394 L -3.11 0.927 D -0.1 0.096 N 0.012 0.040 -0.938 0.429 T 0.000 0.000 T . . . 0.469 0.139 7.191 0.852 0.152 0.057 0.115 N c -1.332 -1.345 0.001 0.076 0.554 0.283 0 0.33 0.151 -0.320 0.080 -1.817 0.006 0.000 0.063 0.000 0.016 5.676 0.169 Chloride channel\x2c core ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000184908.13|ENSG00000173641.13|ENSG00000186510.7 Adipose_Subcutaneous|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Thyroid|Thyroid 0.5465 0.7225 0.3763 0.4502 0.7560 0.5206 0.5549 0.5383 0.5482 0.6045 0.7211 0.3962 0.4698 0.7932 0.5115 0.5541 0.5755 het 736.47 103 1 16356501 . G A 736.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DP=103;Dels=0.00;FS=1.785;HRun=0;HaplotypeScore=3.4265;MQ=59.09;MQ0=0;MQRankSum=1.122;QD=7.15;ReadPosRankSum=-1.400;VQSLOD=5.3143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,33:103:99:766,0,1707 1 16371067 16371067 G T exonic CLCNKB nonsynonymous SNV CLCNKB:NM_000085:exon2:c.G80T:p.R27L 0.56 0.25 0.69 0.65 0.66 0.66 0.6413 0.3297 0.7585 0.6597 0.5866 0.6565 0.6387 0.6965 0.53 0.3 0.64 0.52 0.49 rs2015352 COSM3750546 1(large_intestine) . . . . . . . . . . . 0.025 0.473 D 0.468 0.346 P 0.162 0.332 B 0.094 0.202 N 0.882 0.280 P 2.745 0.805 M -1.92 0.848 D -3.05 0.629 D 0.16 0.192 -0.903 0.477 T 0.000 0.000 T . . . 4.307 0.577 24.0 0.995 0.698 0.137 0.178 N c -0.286 -0.299 0.002 0.094 0.497 0.185 0 3.16 0.353 0.008 0.130 0.926 0.436 0.000 0.063 0.983 0.502 6.147 0.194 . . . 0.6271 0.2847 0.7316 0.6828 0.6346 0.5516 0.6333 0.6228 0.6876 0.5347 0.2923 0.7146 0.6788 0.6464 0.5570 0.6378 0.6445 hom 232.48 10 1 16371067 . G T 232.48 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.25;VQSLOD=11.9894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:21.05:265,21,0 1 16373124 16373124 A G exonic CLCNKB synonymous SNV CLCNKB:NM_000085:exon4:c.A324G:p.S108S 0.74 0.31 0.85 0.99 0.83 0.89 0.8022 0.3879 0.9074 0.9898 0.7626 0.8104 0.8002 0.8742 0.67 0.4 0.81 0.7 0.7 rs5257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8123 0.3761 0.9003 0.8342 0.9891 0.7625 0.8095 0.8088 0.8739 0.6923 0.3788 0.8675 0.8212 0.9864 0.7649 0.8061 0.8039 hom 3507.58 114 1 16373124 . A G 3507.58 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.23;MQ0=0;QD=30.77;VQSLOD=8.4599;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3507,289,0 1 16374533 16374533 G C exonic CLCNKB synonymous SNV CLCNKB:NM_000085:exon5:c.G492C:p.G164G 0.89 0.72 0.93 1. 0.94 0.94 0.9298 0.7633 0.9605 0.9997 0.9258 0.9424 0.9292 0.9277 0.88 0.77 0.94 0.86 0.86 rs2014562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9317 0.7566 0.9581 0.8928 0.9997 0.9235 0.9438 0.9251 0.9276 0.8936 0.7582 0.9475 0.8808 1 0.9189 0.9492 0.9376 hom 1992.80 59 1 16374533 . G C 1992.80 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=58.10;MQ0=0;QD=33.78;VQSLOD=7.8309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:2026,159,0 1 16376319 16376319 T C exonic CLCNKB synonymous SNV CLCNKB:NM_001165945:exon3:c.T369C:p.C123C,CLCNKB:NM_000085:exon10:c.T876C:p.C292C 0.83 0.49 0.91 1. 0.94 0.94 0.9114 0.5638 0.9532 0.9998 0.9262 0.9414 0.9218 0.9267 0.82 0.58 0.94 0.79 0.81 rs7368151 COSM4142955;COSM4142954 1(thyroid) Benign not_specified RCV000427070.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9173 0.5553 0.9490 0.8919 0.9998 0.9234 0.9431 0.9155 0.9268 0.8369 0.5588 0.9296 0.8833 1 0.9189 0.9490 0.9252 hom 8071.32 247 1 16376319 . T C 8071.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.376;DP=247;DS;Dels=0.00;FS=5.105;HRun=0;HaplotypeScore=4.5311;MQ=55.03;MQ0=0;MQRankSum=1.943;QD=32.68;ReadPosRankSum=-0.363;VQSLOD=3.4175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,245:247:99:8033,610,0 1 16380196 16380196 T C exonic CLCNKB nonsynonymous SNV CLCNKB:NM_001165945:exon9:c.T1178C:p.M393T,CLCNKB:NM_000085:exon16:c.T1685C:p.M562T 0.84 0.65 0.92 0.84 0.97 0.91 0.9310 0.6908 0.9539 0.8081 0.9356 0.9802 0.9302 0.9302 0.89 0.7 0.98 0.84 0.97 rs5253 . . . . . . . . . . . . . 0.872 0.032 T 0.0 0.026 B 0.003 0.080 B 0.986 0.081 N 1 0.090 P -0.935 0.013 N -3.01 0.922 D 0.22 0.047 N 0.008 0.198 -0.983 0.344 T 0.000 0.000 T . . . -1.784 0.011 0.002 0.534 0.048 0.002 0.014 N c -1.919 -1.856 0.088 0.160 0.615 0.372 0 -3.73 0.041 -1.338 0.027 -2.268 0.003 0.000 0.063 0.299 0.237 7.111 0.244 CBS domain . . 0.9354 0.6839 0.9477 0.9514 0.8066 0.9378 0.9843 0.9515 0.9315 0.8837 0.6920 0.9414 0.9735 0.8230 0.9393 0.9803 0.9358 hom 4340.35 158 1 16380196 . T C 4340.35 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.707;DP=158;Dels=0.00;FS=3.163;HRun=0;HaplotypeScore=2.4703;MQ=51.79;MQ0=6;MQRankSum=0.091;QD=27.47;ReadPosRankSum=0.684;VQSLOD=3.0190;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,157:158:99:4307,331,0 1 16388646 16388646 T C exonic FAM131C synonymous SNV FAM131C:NM_182623:exon4:c.A216G:p.R72R 0.82 0.72 0.86 0.83 0.87 0.85 0.8516 0.7235 0.9126 0.8321 0.7969 0.8664 0.8180 0.8579 0.82 0.72 0.87 0.5 0.77 rs2863456 COSM3930479 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8546 0.7251 0.9051 0.8854 0.8334 0.7986 0.8666 0.8579 0.8610 0.8132 0.7281 0.8902 0.89 0.8383 0.8110 0.8535 0.8224 hom 1731.62 63 1 16388646 . T C 1731.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.540;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9992;MQ=44.52;MQ0=2;MQRankSum=0.596;QD=27.49;ReadPosRankSum=0.994;VQSLOD=2.6219;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,62:63:99:1765,117,0 1 16451767 16451767 G A exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon16:c.C2712T:p.I904I,EPHA2:NM_004431:exon17:c.C2874T:p.I958I 0.24 0.11 0.31 0.15 0.32 0.35 0.2751 0.1305 0.3441 0.1479 0.2591 0.2811 0.2926 0.3645 0.23 0.12 0.28 0.16 0.29 rs3754334 COSM4142961 2(thyroid) Benign|Benign not_specified|Age-related_cortical_cataract RCV000244865.1|RCV000304354.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2787 0.1263 0.3420 0.2842 0.1464 0.2620 0.2805 0.2968 0.3595 0.2237 0.1269 0.3337 0.2848 0.1429 0.2669 0.2687 0.2649 het 451.89 42 1 16451767 . G A 451.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.858;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=0.390;QD=10.76;ReadPosRankSum=-1.347;VQSLOD=6.2693;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,20:42:99:482,0,575 1 16464653 16464653 G C exonic EPHA2 nonsynonymous SNV EPHA2:NM_001329090:exon4:c.C845G:p.T282R,EPHA2:NM_004431:exon5:c.C1007G:p.T336R . . . . . . 0.0001 0 0 0 0 0.0002 0 0 0.0003 . 0.0005 . . rs146085387 . . . . . . . . . . . . . 0.002 0.721 D 0.938 0.506 P 0.589 0.486 P 0.010 0.302 N 1.000 0.537 D 1.4 0.355 L 0.39 0.574 T -2.7 0.576 D 0.708 0.710 -0.766 0.571 T 0.175 0.519 T 0.075 0.722 D 5.134 0.692 25.4 0.991 0.522 0.651 0.323 D c 0.136 0.153 1.000 0.747 0.722 0.854 0 4.97 0.653 0.655 0.244 1.048 0.713 0.026 0.200 0.978 0.483 16.109 0.810 Fibronectin type III|Immunoglobulin-like fold . . 0.0001 0 0 0 0 5.299e-05 0.0003 0 0 0.0001 0 0 0 0 0.0003 0.0002 0 het 916.39 60 1 16464653 . G C 916.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.252;DP=60;Dels=0.00;FS=3.607;HRun=0;HaplotypeScore=4.8923;MQ=57.96;MQ0=0;MQRankSum=0.160;QD=15.27;ReadPosRankSum=1.443;VQSLOD=2.7532;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,33:60:99:946,0,688 1 16464673 16464673 G A exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon4:c.C825T:p.P275P,EPHA2:NM_004431:exon5:c.C987T:p.P329P 0.35 0.34 0.43 0.15 0.42 0.44 0.3787 0.3621 0.3510 0.1218 0.3417 0.4022 0.3855 0.4607 0.39 0.36 0.4 0.33 0.44 rs2230597 COSM3749009 1(breast);4(large_intestine) Benign|Benign not_specified|Age-related_cortical_cataract RCV000247172.1|RCV000281939.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3775 0.3497 0.3589 0.4487 0.1249 0.3438 0.4019 0.4061 0.4583 0.3666 0.3567 0.3753 0.4669 0.1239 0.3430 0.3990 0.4059 het 784.84 48 1 16464673 . G A 784.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.031;DP=48;Dels=0.00;FS=4.180;HRun=1;HaplotypeScore=1.7781;MQ=59.52;MQ0=0;MQRankSum=0.652;QD=16.35;ReadPosRankSum=0.238;VQSLOD=6.2009;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,26:48:99:815,0,625 1 16475123 16475123 C T exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon2:c.G411A:p.L137L,EPHA2:NM_004431:exon3:c.G573A:p.L191L 0.23 0.15 0.37 0.031 0.36 0.3 0.2900 0.1663 0.3174 0.0176 0.2533 0.3320 0.2993 0.3365 0.28 0.17 0.35 0.26 0.33 rs6678616 . . Benign|Benign not_specified|Age-related_cortical_cataract RCV000253199.1|RCV000309096.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2989 0.1615 0.3307 0.3980 0.0174 0.2776 0.3343 0.3326 0.3368 0.2598 0.1617 0.3233 0.4371 0.0179 0.2786 0.3281 0.3180 het 895.47 107 1 16475123 . C T 895.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.183;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=60.00;MQ0=0;MQRankSum=0.494;QD=8.37;ReadPosRankSum=0.202;VQSLOD=5.2062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,40:107:99:925,0,1833 1 16475126 16475126 C T exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon2:c.G408A:p.A136A,EPHA2:NM_004431:exon3:c.G570A:p.A190A 0.23 0.15 0.37 0.031 0.36 0.3 0.2900 0.1667 0.3175 0.0176 0.2535 0.3320 0.2993 0.3365 0.28 0.17 0.35 0.26 0.36 rs6678618 COSM1178394 1(prostate) Benign|Benign not_specified|Age-related_cortical_cataract RCV000249831.1|RCV000363768.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2988 0.1616 0.3307 0.3981 0.0174 0.2765 0.3342 0.3329 0.3369 0.2598 0.1612 0.3241 0.4371 0.0179 0.2788 0.3282 0.3186 het 943.78 104 1 16475126 . C T 943.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.223;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=59.78;MQ0=0;MQRankSum=0.286;QD=9.07;ReadPosRankSum=-0.529;VQSLOD=6.3645;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,41:104:99:974,0,1559 1 16532498 16532498 G A exonic ARHGEF19 nonsynonymous SNV ARHGEF19:NM_153213:exon8:c.C1379T:p.P460L 0.036 0.0038 0.062 . 0.1 0.032 0.1135 0.0302 0.0876 0.0002 0.1285 0.1623 0.1270 0.0413 0.087 0.023 0.12 . 0.082 rs41269185 COSM4999250;COSM4999249 1(pancreas) . . . . . . . . . . . 0.008 0.586 D 0.999 0.764 D 0.983 0.742 D 0.000 0.513 D 0.000 0.588 P 1.925 0.515 L 1.45 0.325 T -9.03 0.983 D 0.298 0.358 -1.030 0.205 T 0.005 0.017 T . . . 6.683 0.915 32 0.997 0.819 0.934 0.577 D c 0.380 0.439 1.000 0.747 0.609 0.349 0 4.66 0.577 5.008 0.635 1.048 0.713 1.000 0.715 0.968 0.456 15.048 0.714 Dbl homology (DH) domain ENSG00000142632.12|ENSG00000237276.4|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000237276.4|ENSG00000142632.12|ENSG00000237276.4|ENSG00000142632.12|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Stomach|Testis|Whole_Blood|Whole_Blood|Whole_Blood 0.0809 0.0204 0.0559 0.1262 6.075e-05 0.0716 0.1208 0.0951 0.0307 0.0735 0.0218 0.0646 0.1490 0 0.0722 0.1110 0.0723 het 396.58 35 1 16532498 . G A 396.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DP=35;Dels=0.00;FS=1.281;HRun=0;HaplotypeScore=1.5592;MQ=58.93;MQ0=0;MQRankSum=2.363;QD=11.33;ReadPosRankSum=-2.053;VQSLOD=4.9272;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:427,0,450 1 16534646 16534646 C G exonic ARHGEF19 nonsynonymous SNV ARHGEF19:NM_153213:exon3:c.G487C:p.G163R 0.24 0.086 0.39 0.15 0.27 0.42 0.2700 0.1023 0.4630 0.1269 0.1736 0.2584 0.2428 0.3996 0.21 0.1 0.26 0.3 0.25 rs221058 COSM1335927 1(thyroid) . . . . . . . . . . . 0.069 0.355 T 0.014 0.156 B 0.011 0.145 B 0.615 0.057 N 0.998 0.222 P 0.975 0.246 L 0.76 0.499 T -2.16 0.488 N 0.087 0.083 -0.995 0.312 T 0.000 0.000 T . . . 2.399 0.350 18.81 0.988 0.457 0.186 0.201 N c -0.669 -0.606 1.000 0.747 0.646 0.442 0 2.13 0.263 0.184 0.166 0.848 0.348 0.001 0.137 0.674 0.303 6.672 0.221 . ENSG00000142632.12|ENSG00000132881.7|ENSG00000142632.12|ENSG00000204377.3|ENSG00000132881.7|ENSG00000132881.7|ENSG00000132881.7|ENSG00000142632.12|ENSG00000142632.12|ENSG00000132881.7|ENSG00000142632.12|ENSG00000132881.7|ENSG00000234166.1|ENSG00000142627.9|ENSG00000234166.1|ENSG00000142632.12|ENSG00000234166.1|ENSG00000184908.13|ENSG00000132881.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2776 0.0968 0.4515 0.2914 0.1261 0.1815 0.2573 0.2914 0.3990 0.1994 0.0968 0.4199 0.2933 0.1187 0.1956 0.2502 0.2673 het 1174.13 81 1 16534646 . C G 1174.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.781;DP=81;Dels=0.00;FS=0.850;HRun=0;HaplotypeScore=0.9973;MQ=59.72;MQ0=0;MQRankSum=0.882;QD=14.50;ReadPosRankSum=-0.262;VQSLOD=6.6528;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,46:81:99:1204,0,890 1 16577908 16577908 G C exonic FBXO42 nonsynonymous SNV FBXO42:NM_018994:exon10:c.C1411G:p.P471A 0.27 0.43 0.21 0.17 0.33 0.13 0.3035 0.4361 0.1663 0.1889 0.3377 0.3558 0.2919 0.1532 0.38 0.42 0.36 0.37 0.37 rs12069239 COSM3747581 1(liver) . . . . . . . . . . . 0.885 0.030 T 0.0 0.026 B 0.0 0.013 B 0.323 0.142 N 1.000 0.198 P 0 0.065 N 3.68 0.394 T 0.08 0.060 N 0.01 0.100 -0.919 0.456 T 0.000 0.000 T . . . -1.071 0.029 0.011 0.457 0.036 0.046 0.102 N c -0.995 -0.856 0.713 0.228 0.707 0.730 0 0.736 0.174 0.318 0.191 -1.646 0.008 0.073 0.219 0.941 0.415 1.564 0.024 . ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000037637.6|ENSG00000142632.12|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000237276.4|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000237276.4|ENSG00000142632.12|ENSG00000037637.6|ENSG00000204377.3|ENSG00000142632.12|ENSG00000237276.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2971 0.4341 0.1745 0.2938 0.1848 0.3376 0.3637 0.3064 0.1539 0.3632 0.4307 0.2249 0.2947 0.1805 0.3342 0.3638 0.2959 het 731.58 69 1 16577908 . G C 731.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.596;DP=69;Dels=0.00;FS=2.191;HRun=0;HaplotypeScore=5.5690;MQ=59.67;MQ0=0;MQRankSum=0.486;QD=10.60;ReadPosRankSum=-1.727;VQSLOD=4.2012;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,27:69:99:762,0,1168 1 16641899 16641899 C T exonic FBXO42 synonymous SNV FBXO42:NM_018994:exon2:c.G15A:p.S5S 0.36 0.047 0.34 0.68 0.42 0.39 0.3970 0.1106 0.3606 0.6819 0.5105 0.4000 0.4404 0.3936 0.3 0.12 0.4 0.27 0.29 rs2273311 COSM5427407 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4031 0.1039 0.3641 0.3605 0.6867 0.5111 0.3979 0.3851 0.3927 0.3434 0.1044 0.3270 0.3344 0.6952 0.5003 0.4039 0.4255 het 1389.45 99 1 16641899 . C T 1389.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.870;DP=99;Dels=0.00;FS=1.625;HRun=0;HaplotypeScore=2.8276;MQ=59.24;MQ0=0;MQRankSum=-0.447;QD=14.03;ReadPosRankSum=0.877;VQSLOD=6.4193;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,55:99:99:1419,0,1046 1 16727305 16727305 - CTT exonic SPATA21 nonframeshift insertion SPATA21:NM_198546:exon11:c.1083_1084insAAG:p.K361_L362insK 0.099 0.22 0.084 0.001 0.11 0.034 0.1018 0.2226 0.0594 0.0005 0.0712 0.1232 0.0947 0.0350 0.16 0.21 0.13 . . rs80260069 COSM327968;COSM5713024 1(pancreas);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0978 0.2207 0.0663 0.1277 0.0004 0.0734 0.1250 0.1074 0.0332 0.1290 0.2127 0.0704 0.1490 0 0.0736 0.1131 0.0835 het 5046.08 233 1 16727305 . G GCTT 5046.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.829;DP=233;DS;FS=2.399;HRun=0;HaplotypeScore=753.4762;MQ=57.34;MQ0=0;MQRankSum=-1.048;QD=21.56;ReadPosRankSum=1.287;set=variant2 GT:AD:DP:GQ:PL 0/1:147,85:233:99:5046,0,5067 1 16730308 16730308 G T exonic SPATA21 nonsynonymous SNV SPATA21:NM_198546:exon10:c.C915A:p.H305Q 0.051 0.0061 0.068 0.069 0.074 0.059 0.0678 0.0126 0.0604 0.0760 0.0959 0.0758 0.0779 0.0587 0.05 0.015 0.068 0.033 0.082 rs41269193 COSM146418 1(stomach) . . . . . . . . . . . 0.358 0.185 T 0.257 0.297 B 0.074 0.267 B 0.980 0.078 N 1 0.090 N 0.69 0.170 N 1.03 0.626 T -0.91 0.245 N 0.05 0.031 -1.101 0.040 T 0.008 0.029 T . . . 0.263 0.119 5.324 0.870 0.164 0.007 0.031 N c -1.086 -1.098 0.086 0.160 0.428 0.059 0 -4.0 0.038 -0.790 0.047 -1.367 0.012 0.095 0.225 0.597 0.288 8.329 0.312 EF-hand domain|EF-hand domain pair . . 0.0693 0.0116 0.0643 0.0885 0.0747 0.1053 0.0724 0.0788 0.0561 0.0600 0.0114 0.0573 0.0927 0.0717 0.0964 0.0767 0.0809 het 1959.03 162 1 16730308 . G T 1959.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DP=162;Dels=0.00;FS=4.933;HRun=2;HaplotypeScore=8.8221;MQ=59.74;MQ0=0;MQRankSum=0.144;QD=12.09;ReadPosRankSum=-1.068;VQSLOD=3.9562;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,75:162:99:1989,0,2197 1 16736326 16736326 C T exonic SPATA21 synonymous SNV SPATA21:NM_198546:exon6:c.G357A:p.P119P 0.0026 . 0.0072 . 0.008 . 0.0037 0.0011 0.0035 0 0.0010 0.0056 0.0048 0.0002 0.0044 0.0009 0.0062 . . rs146259783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0007 0.0042 0.0017 0 0.0006 0.0064 0.004 0.0001 0.0036 0.0016 0.0072 0.0033 0 0.0003 0.0057 0.0031 het 271.53 25 1 16736326 . C T 271.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DP=25;Dels=0.00;FS=6.761;HRun=0;HaplotypeScore=2.6492;MQ=59.07;MQ0=0;MQRankSum=0.579;QD=10.86;ReadPosRankSum=-0.463;VQSLOD=3.4440;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,11:25:99:302,0,372 1 16892272 16892272 - T exonic NBPF1 unknown UNKNOWN . . . . . . 0.0582 0.0702 0.0424 0.0569 0.1047 0.0584 0.0657 0.0391 . . . . . rs373748839 COSN15651581;COSN20094404;COSN20094406;COSN15651580;COSN20094405;COSN20094403 2(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0280 0.0182 0.0366 0.0340 0.0163 0.0295 0.0279 0.0332 0.0255 0.0024 0.0033 0 0 0.0014 0.0004 0.0031 0 het 697.55 42 1 16892272 . C CT 697.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.528;DP=42;DS;FS=88.834;HRun=1;HaplotypeScore=407.5146;MQ=13.50;MQ0=153;MQRankSum=-5.049;QD=2.85;ReadPosRankSum=-1.171;set=variant2 GT:AD:DP:GQ:PL 0/1:222,23:42:99:737,0,647 1 16892277 16892277 G - exonic NBPF1 unknown UNKNOWN . . . . . . 0.1505 0.1435 0.1584 0.1502 0.2398 0.1426 0.1609 0.1340 0.17 0.17 0.17 . . rs368729374 COSN15648855;COSN15648856;COSN20094407;COSN20094409;COSN20094408;COSN20094410 2(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0787 0.0492 0.0891 0.1382 0.0381 0.0631 0.0889 0.0867 0.0861 0.0903 0.1087 0.0288 0.0488 0.235 0.0149 0.1258 0.0726 het 670.93 42 1 16892276 . TG T 670.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.459;DP=42;DS;FS=95.161;HRun=1;HaplotypeScore=398.5461;MQ=13.46;MQ0=154;MQRankSum=-5.006;QD=2.76;ReadPosRankSum=0.101;set=variant2 GT:AD:DP:GQ:PL 0/1:220,23:42:99:710,0,796 1 17087542 17087546 GTGCT - exonic MST1L frameshift deletion MST1L:NM_001271733:exon2:c.119_123del:p.Q40Pfs*17 . . . . . . 0.4409 0.4598 0.4695 0.4701 0.4653 0.4310 0.4317 0.4238 . . . . . rs56364660 COSM1317622;COSM1317623 3(haematopoietic_and_lymphoid_tissue);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3555 0.4646 0.3883 0.2176 0.4370 0.3943 0.3318 0.3245 0.2905 0.4837 0.4949 0.4904 0.4722 0.4967 0.4916 0.4726 0.4765 het 1171.99 152 1 17087541 . GGTGCT G 1171.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.327;DP=152;DS;FS=35.118;HRun=0;HaplotypeScore=853.6694;MQ=40.47;MQ0=6;MQRankSum=-4.137;QD=5.48;ReadPosRankSum=-3.075;set=variant2 GT:AD:DP:GQ:PL 0/1:142,72:152:99:1211,0,10568 1 17250836 17250836 A G exonic CROCC synonymous SNV CROCC:NM_014675:exon3:c.A213G:p.T71T . . . . . . 0.3367 0.3872 0.3081 0.4356 0.3474 0.3351 0.3485 0.2748 0.34 0.38 0.32 0.34 0.26 rs57174186 COSM424603 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3250 0.3789 0.3037 0.3157 0.4344 0.3249 0.3244 0.3360 0.2641 0.3442 0.3819 0.3195 0.2736 0.4394 0.3120 0.3236 0.3240 het 393.30 55 1 17250836 . A G 393.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.821;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.600;QD=7.15;ReadPosRankSum=0.493;VQSLOD=10.2539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,20:55:99:423,0,957 1 17265560 17265560 C T exonic CROCC nonsynonymous SNV CROCC:NM_014675:exon12:c.C1531T:p.P511S . . . . . . 0.3898 0.4256 0.3720 0.4628 0.4178 0.3852 0.4216 0.3465 . . . 0.26 0.11 rs9435793 COSM424610 1(haematopoietic_and_lymphoid_tissue);1(skin);7(thyroid);13(upper_aerodigestive_tract);9(large_intestine);4(central_nervous_system) . . . . . . . . . . . 0.217 0.191 T 0.007 0.384 B 0.013 0.416 B . . . 0.888 0.279 N 0.82 0.209 L 3.0 0.092 T 0.15 0.053 N 0.196 0.240 -0.958 0.397 T 0.000 0.000 T . . . 2.197 0.325 17.49 0.951 0.256 0.642 0.321 D c -0.186 0.002 0.980 0.300 0.731 0.878 0 4.42 0.526 1.342 0.333 0.931 0.441 0.816 0.297 0.924 0.398 8.338 0.312 . ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000268869.1|ENSG00000235241.1|ENSG00000238142.1 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.3461 0.4030 0.3260 0.3492 0.4453 0.3563 0.3404 0.3546 0.2954 0.3421 0.3812 0.3074 0.2945 0.4395 0.3098 0.3205 0.3219 het 109.82 12 1 17265560 . C T 109.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DP=12;Dels=0.00;FS=6.264;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=-0.678;QD=9.15;ReadPosRankSum=-1.663;VQSLOD=3.2823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,8:12:99:140,0,125 1 17266536 17266536 G C exonic CROCC nonsynonymous SNV CROCC:NM_014675:exon13:c.G1756C:p.D586H . . . . . . 0.2566 0.1719 0.2157 0.4145 0.2473 0.2537 0.3025 0.2611 . . . 0.13 0.057 rs9435714 COSM1747941 3(breast);1(haematopoietic_and_lymphoid_tissue);2(urinary_tract);2(thyroid);8(upper_aerodigestive_tract);4(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.999 0.899 D 0.964 0.715 D . . . 0.990 0.412 D 2.215 0.627 M 2.82 0.109 T -3.9 0.729 D 0.531 0.571 -0.955 0.402 T 0.000 0.000 T . . . 5.102 0.688 25.3 0.983 0.398 0.959 0.665 D c 0.559 0.485 0.448 0.205 0.757 0.989 0 4.08 0.467 7.569 0.816 1.048 0.713 1.000 0.715 0.580 0.285 11.879 0.517 . ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000058453.12|ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.2292 0.1382 0.1904 0.2707 0.4013 0.2114 0.2218 0.2373 0.2411 0.2107 0.1454 0.2039 0.2483 0.4185 0.2068 0.2248 0.2278 het 252.18 42 1 17266536 . G C 252.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.832;DP=42;Dels=0.00;FS=1.574;HRun=0;HaplotypeScore=0.9469;MQ=58.09;MQ0=0;MQRankSum=0.715;QD=6.00;ReadPosRankSum=-1.030;VQSLOD=3.3778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,11:42:99:282,0,903 1 17295679 17295679 T C exonic CROCC synonymous SNV CROCC:NM_014675:exon32:c.T5145C:p.A1715A 0.94 0.99 0.95 0.97 0.89 0.91 0.9155 0.9821 0.9612 0.9653 0.9146 0.8959 0.9308 0.8955 0.93 0.98 0.9 0.96 0.72 rs4920574 COSM4143042 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9152 0.9827 0.9581 0.9093 0.9653 0.9033 0.8937 0.9123 0.8950 0.9223 0.9820 0.9451 0.9106 0.9710 0.8986 0.8882 0.9008 hom 819.03 24 1 17295679 . T C 819.03 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=34.13;VQSLOD=9.8757;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:66.21:852,66,0 1 17297252 17297252 A C exonic CROCC nonsynonymous SNV CROCC:NM_014675:exon35:c.A5774C:p.Q1925P . . . . . . 0.0002 0.0001 9.009e-05 0 0 0.0004 0 0 0.0004 . 0.0006 . . rs140590876 . . . . . . . . . . . . . 0.015 0.524 D 0.998 0.764 D 0.99 0.774 D . . . 0.947 0.376 D 2.72 0.798 M 2.72 0.120 T -3.68 0.703 D 0.566 0.599 -1.024 0.225 T 0.092 0.351 T 0.022 0.453 T 3.020 0.423 22.3 0.990 0.499 0.706 0.344 D c 0.543 0.490 0.993 0.330 0.635 0.413 0 4.6 0.564 2.290 0.430 1.083 0.853 1.000 0.715 0.994 0.587 12.282 0.539 . . . 0.0003 6.786e-05 0.0001 0 0 9.689e-05 0.0005 0 7.819e-05 0.0003 0.0001 0 0 0 0.0003 0.0004 0 het 87.88 18 1 17297252 . A C 87.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.070;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5606;MQ=58.71;MQ0=0;MQRankSum=-0.394;QD=4.88;ReadPosRankSum=0.000;VQSLOD=2.6560;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:118,0,367 1 17301780 17301780 A G exonic MFAP2 synonymous SNV MFAP2:NM_001135247:exon8:c.T429C:p.H143H,MFAP2:NM_001135248:exon8:c.T429C:p.H143H,MFAP2:NM_002403:exon8:c.T432C:p.H144H,MFAP2:NM_017459:exon8:c.T432C:p.H144H 0.42 0.47 0.46 0.24 0.49 0.41 0.4427 0.4557 0.4797 0.2560 0.3895 0.4635 0.4473 0.4425 0.47 0.45 0.47 0.43 0.47 rs761422 COSM4417131 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4460 0.4527 0.4859 0.4752 0.2586 0.3842 0.4724 0.4365 0.4461 0.4420 0.4433 0.4678 0.4868 0.2556 0.3793 0.4737 0.4424 het 424.66 45 1 17301780 . A G 424.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.796;DP=45;Dels=0.00;FS=2.704;HRun=0;HaplotypeScore=0.9469;MQ=58.55;MQ0=0;MQRankSum=1.054;QD=9.44;ReadPosRankSum=-0.197;VQSLOD=5.9954;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,18:45:99:455,0,672 1 17313343 17313343 G A exonic ATP13A2 synonymous SNV ATP13A2:NM_001141974:exon26:c.C3060T:p.A1020A,ATP13A2:NM_001141973:exon27:c.C3177T:p.A1059A,ATP13A2:NM_022089:exon27:c.C3192T:p.A1064A 0.34 0.14 0.46 0.26 0.51 0.43 0.4648 0.1973 0.4806 0.2930 0.4935 0.5210 0.4736 0.4700 0.42 0.21 0.52 0.26 0.55 rs9435659 COSM3747592;COSM3747591 3(liver);1(thyroid);1(large_intestine) Benign|Benign not_specified|Parkinson_disease_9 RCV000116442.2|RCV000309613.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4669 0.1868 0.4792 0.4839 0.2913 0.4828 0.5224 0.4668 0.4729 0.4122 0.1849 0.4665 0.5132 0.2923 0.4822 0.5309 0.4898 het 785.93 47 1 17313343 . G A 785.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.829;DP=47;Dels=0.00;FS=4.422;HRun=0;HaplotypeScore=0.0000;MQ=56.47;MQ0=0;MQRankSum=2.119;QD=16.72;ReadPosRankSum=1.115;VQSLOD=2.5731;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,27:47:99:816,0,426 1 17313654 17313654 C T exonic ATP13A2 synonymous SNV ATP13A2:NM_001141974:exon25:c.G2838A:p.V946V,ATP13A2:NM_001141973:exon26:c.G2955A:p.V985V,ATP13A2:NM_022089:exon26:c.G2970A:p.V990V 0.35 0.17 0.46 0.25 0.51 0.43 0.4639 0.2236 0.4803 0.2894 0.4831 0.5174 0.4693 0.4688 0.43 0.24 0.52 0.23 0.54 rs761421 COSM3750608;COSM3750609 1(thyroid);1(large_intestine) Benign|Benign not_specified|Parkinson_disease_9 RCV000116439.2|RCV000360410.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4670 0.2153 0.4798 0.4841 0.2851 0.4812 0.5201 0.4673 0.4729 0.4177 0.2127 0.4664 0.5132 0.2844 0.4814 0.5274 0.4877 het 593.16 50 1 17313654 . C T 593.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.290;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-2.590;QD=11.86;ReadPosRankSum=-0.910;VQSLOD=9.3893;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:623,0,682 1 17314942 17314942 G A exonic ATP13A2 synonymous SNV ATP13A2:NM_001141974:exon23:c.C2505T:p.G835G,ATP13A2:NM_001141973:exon24:c.C2622T:p.G874G,ATP13A2:NM_022089:exon24:c.C2637T:p.G879G 0.34 0.14 0.46 0.26 0.51 0.43 0.4590 0.1922 0.4754 0.2900 0.4779 0.5152 0.4635 0.4681 0.42 0.21 0.52 0.27 0.57 rs9435662 COSM3750612;COSM3750613 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Parkinson_disease_9 RCV000116435.2|RCV000331660.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4650 0.1860 0.4781 0.4835 0.2909 0.4808 0.5192 0.4664 0.4726 0.4103 0.1853 0.4616 0.5133 0.2915 0.4808 0.5279 0.4866 het 2787.09 192 1 17314942 . G A 2787.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.800;DP=192;DS;Dels=0.00;FS=2.011;HRun=0;HaplotypeScore=3.6448;MQ=59.76;MQ0=0;MQRankSum=2.737;QD=14.52;ReadPosRankSum=0.084;VQSLOD=4.5543;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,113:192:99:2817,0,2062 1 17319011 17319011 G A exonic ATP13A2 synonymous SNV ATP13A2:NM_001141973:exon17:c.C1800T:p.P600P,ATP13A2:NM_001141974:exon17:c.C1800T:p.P600P,ATP13A2:NM_022089:exon17:c.C1815T:p.P605P 0.45 0.41 0.52 0.26 0.62 0.47 0.5540 0.4426 0.5381 0.2867 0.5433 0.6189 0.5640 0.5165 0.57 0.45 0.63 0.46 0.57 rs2076603 COSM3997075;COSM3997076 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Parkinson_disease_9 RCV000116434.2|RCV000299686.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5576 0.4421 0.5458 0.6199 0.2882 0.5435 0.6259 0.5737 0.5186 0.5417 0.4381 0.5324 0.6367 0.2881 0.5424 0.6261 0.5675 hom 6970.57 240 1 17319011 . G A 6970.57 Mask AC=2;AF=1.00;AN=2;DP=240;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8940;MQ=58.96;MQ0=0;QD=29.04;VQSLOD=3.4517;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,240:240:99:6970,542,0 1 17380497 17380497 G T exonic SDHB synonymous SNV SDHB:NM_003000:exon1:c.C18A:p.A6A 0.96 0.88 0.98 1. 0.97 0.99 0.9721 0.9100 0.9875 0.9986 0.9812 0.9701 0.9789 0.9878 0.95 0.91 0.97 0.92 0.75 rs2746462 . . Benign|Benign|Benign|Benign not_specified|Hereditary_cancer-predisposing_syndrome|Paraganglioma_and_gastric_stromal_sarcoma|Pheochromocytoma RCV000037717.7|RCV000162442.1|RCV000262815.1|RCV000329603.1 MedGen|MedGen:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen:OMIM CN169374|C0027672:699346009|C1847319:606864:ORPHA97286|C0031511:171300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9737 0.9123 0.9830 0.9540 0.9990 0.9790 0.9720 0.9670 0.9878 0.9577 0.9069 0.9690 0.9371 0.9994 0.9823 0.9755 0.9785 hom 804.36 32 1 17380497 . G T 804.36 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.286;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7077;MQ=59.28;MQ0=0;MQRankSum=1.455;QD=25.14;ReadPosRankSum=0.956;VQSLOD=5.6127;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,28:32:69.19:837,69,0 1 17396703 17396703 T C exonic PADI2 synonymous SNV PADI2:NM_007365:exon15:c.A1644G:p.L548L 0.44 0.31 0.54 0.39 0.59 0.47 0.5538 0.3768 0.5760 0.4075 0.5738 0.6085 0.5430 0.4979 0.53 0.39 0.6 0.37 0.67 rs2076595 COSM3750623 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5553 0.3716 0.5698 0.5461 0.4097 0.5920 0.6075 0.5600 0.4988 0.5313 0.3784 0.5203 0.5662 0.3830 0.6015 0.6160 0.5891 het 2698.59 232 1 17396703 . T C 2698.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.814;DP=232;DS;Dels=0.00;FS=1.628;HRun=1;HaplotypeScore=2.9294;MQ=58.88;MQ0=0;MQRankSum=-0.244;QD=11.63;ReadPosRankSum=0.788;VQSLOD=6.3571;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:129,103:232:99:2729,0,3402 1 17402255 17402255 C T exonic PADI2 synonymous SNV PADI2:NM_007365:exon12:c.G1374A:p.A458A 0.53 0.48 0.58 0.4 0.66 0.54 0.6133 0.5310 0.6212 0.4127 0.5890 0.6639 0.6233 0.5694 0.62 0.54 0.65 0.41 0.69 rs3818032 COSM3750624 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6126 0.5251 0.6184 0.6819 0.4154 0.6056 0.6593 0.6323 0.5704 0.6009 0.5335 0.5817 0.7053 0.3859 0.6155 0.6579 0.6145 hom 5347 171 1 17402255 . C T 5347 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6513;MQ=59.29;MQ0=0;QD=31.27;VQSLOD=7.3140;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:171:99:5346,433,0 1 17405809 17405809 G A exonic PADI2 synonymous SNV PADI2:NM_007365:exon11:c.C1260T:p.N420N 0.43 0.29 0.53 0.39 0.57 0.46 0.5377 0.3526 0.5738 0.4020 0.5455 0.5876 0.5430 0.4944 0.5 0.36 0.58 0.39 0.61 rs2057096 COSM3997079;COSM3750625 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5393 0.3484 0.5656 0.5258 0.4034 0.5644 0.5863 0.5449 0.4964 0.5083 0.3580 0.5156 0.5662 0.3708 0.5742 0.5902 0.5592 het 1840.23 140 1 17405809 . G A 1840.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.516;DP=140;Dels=0.00;FS=4.282;HRun=0;HaplotypeScore=6.9513;MQ=59.38;MQ0=0;MQRankSum=-1.237;QD=13.14;ReadPosRankSum=0.620;VQSLOD=4.3099;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,75:140:99:1870,0,1506 1 17550121 17550121 G A exonic PADI1 synonymous SNV PADI1:NM_013358:exon3:c.G279A:p.R93R 0.15 0.048 0.31 0.16 0.14 0.16 0.1662 0.0587 0.3570 0.1437 0.1334 0.1577 0.1391 0.1610 0.12 0.055 0.16 0.12 0.12 rs2293912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1749 0.0552 0.3525 0.1492 0.1483 0.1277 0.1580 0.1606 0.1617 0.1345 0.0514 0.3110 0.1325 0.1389 0.1334 0.1708 0.1673 het 1129.49 85 1 17550121 . G A 1129.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.560;DP=85;Dels=0.00;FS=13.853;HRun=0;HaplotypeScore=2.7979;MQ=58.25;MQ0=0;MQRankSum=1.313;QD=13.29;ReadPosRankSum=0.641;VQSLOD=3.7928;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,47:85:99:1159,0,899 1 17555508 17555508 G T exonic PADI1 synonymous SNV PADI1:NM_013358:exon8:c.G891T:p.T297T 0.21 0.18 0.19 0.059 0.35 0.29 0.3318 0.2453 0.2376 0.0814 0.3743 0.3750 0.3476 0.3445 0.28 0.21 0.32 0.18 0.16 rs2977234 COSM424650 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2682 0.1970 0.1730 0.2762 0.0502 0.3248 0.3167 0.2860 0.3220 0.2782 0.2173 0.2055 0.2947 0.0512 0.3359 0.3275 0.2953 het 282.58 27 1 17555508 . G T 282.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.854;DP=27;Dels=0.00;FS=5.734;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.073;QD=10.47;ReadPosRankSum=1.439;VQSLOD=5.0178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:313,0,401 1 17557133 17557133 A C exonic PADI1 synonymous SNV PADI1:NM_013358:exon10:c.A1120C:p.R374R 0.41 0.4 0.32 0.37 0.43 0.5 0.4193 0.4200 0.2639 0.3643 0.4492 0.4336 0.3790 0.4862 0.41 0.41 0.42 0.4 0.33 rs3003406 COSM146420 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4032 0.4119 0.2619 0.3867 0.3590 0.4424 0.4281 0.3851 0.4674 0.4219 0.4131 0.2804 0.4238 0.3998 0.4467 0.4320 0.4143 hom 609.16 24 1 17557133 . A C 609.16 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.38;VQSLOD=13.5756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:51.15:642,51,0 1 17601165 17601165 C T exonic PADI3 synonymous SNV PADI3:NM_016233:exon11:c.C1191T:p.R397R 0.061 0.012 0.099 0.001 0.18 0.042 0.1219 0.0296 0.0592 0.0002 0.2032 0.1724 0.1217 0.0507 0.11 0.029 0.15 0.065 0.13 rs11585357 COSM3750634 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1210 0.0280 0.0652 0.1098 0.0002 0.2049 0.1720 0.1308 0.0514 0.1252 0.0301 0.0646 0.1291 0 0.2142 0.1738 0.1697 het 1686.38 126 1 17601165 . C T 1686.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.577;DP=126;Dels=0.00;FS=4.421;HRun=0;HaplotypeScore=2.7886;MQ=59.85;MQ0=0;MQRankSum=0.117;QD=13.38;ReadPosRankSum=-1.388;VQSLOD=5.5991;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,67:126:99:1716,0,1459 1 17657534 17657534 G A exonic PADI4 nonsynonymous SNV PADI4:NM_012387:exon2:c.G163A:p.G55S 0.52 0.45 0.54 0.56 0.58 0.52 0.5612 0.4751 0.5016 0.5836 0.5975 0.5877 0.5639 0.5238 0.55 0.48 0.58 0.39 0.56 rs11203366 COSM3746670 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.900 0.073 N 1 0.090 P -1.15 0.009 N 3.29 0.065 T 1.46 0.010 N 0.022 0.005 -0.912 0.466 T 0.000 0.000 T . . . -1.891 0.009 0.002 0.485 0.040 0.005 0.024 N c -2.090 -2.135 1.000 0.500 0.554 0.246 0 -10.9 0.002 -1.239 0.030 -1.964 0.005 0.000 0.063 0.000 0.016 4.291 0.102 Cupredoxin|Protein-arginine deiminase (PAD) N-terminal ENSG00000159339.9|ENSG00000159339.9|ENSG00000159339.9 Brain_Cortex|Brain_Frontal_Cortex_BA9|Lung 0.5593 0.4690 0.5007 0.5960 0.5763 0.5905 0.5861 0.5702 0.5221 0.5579 0.4784 0.5489 0.5867 0.5989 0.5854 0.5918 0.5786 het 1231.64 100 1 17657534 . G A 1231.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.871;DP=100;Dels=0.00;FS=2.683;HRun=0;HaplotypeScore=5.9130;MQ=59.19;MQ0=0;MQRankSum=0.406;QD=12.32;ReadPosRankSum=-1.162;VQSLOD=4.9922;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,45:100:99:1262,0,1357 1 17657616 17657616 T C exonic PADI4 nonsynonymous SNV PADI4:NM_012387:exon2:c.T245C:p.V82A 0.53 0.48 0.55 0.56 0.57 0.52 0.5641 0.4996 0.5030 0.5837 0.5976 0.5878 0.5653 0.5279 0.55 0.51 0.58 0.41 0.55 rs11203367 COSM3746671 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 1.0 0.030 T 0.0 0.026 B 0.0 0.013 B 0.173 0.173 N 1 0.090 P -2.405 0.001 N 3.24 0.069 T 2.3 0.004 N 0.011 0.002 -0.959 0.394 T 0.000 0.000 T . . . -1.269 0.023 0.005 0.260 0.012 0.001 0.005 N c -1.343 -1.171 0.068 0.154 0.549 0.223 0 4.66 0.577 1.251 0.322 0.069 0.176 0.070 0.219 0.007 0.100 9.012 0.351 Cupredoxin|Protein-arginine deiminase (PAD) N-terminal ENSG00000159339.9|ENSG00000159339.9|ENSG00000159339.9 Brain_Cortex|Brain_Frontal_Cortex_BA9|Lung 0.5619 0.4966 0.5021 0.5968 0.5777 0.5903 0.5862 0.5722 0.5270 0.5648 0.5040 0.5489 0.5894 0.5979 0.5853 0.5913 0.5792 het 721.43 75 1 17657616 . T C 721.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.325;DP=75;Dels=0.00;FS=0.904;HRun=0;HaplotypeScore=5.4511;MQ=59.17;MQ0=0;MQRankSum=1.779;QD=9.62;ReadPosRankSum=1.173;VQSLOD=4.8413;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,30:75:99:751,0,1183 1 17660499 17660499 G C exonic PADI4 nonsynonymous SNV PADI4:NM_012387:exon3:c.G335C:p.G112A 0.52 0.46 0.54 0.56 0.55 0.52 0.5462 0.4786 0.4969 0.5812 0.5648 0.5644 0.5463 0.5242 0.53 0.49 0.55 0.39 0.52 rs874881 COSM3746672 1(bone);1(haematopoietic_and_lymphoid_tissue);2(liver) . . . . . . . . . . . 0.821 0.054 T 0.639 0.385 P 0.19 0.347 B 0.001 0.436 D 0.290 0.335 P 1.715 0.445 L 3.16 0.077 T -2.94 0.614 D 0.191 0.360 -1.027 0.214 T 0.000 0.000 T . . . 1.496 0.242 13.29 0.861 0.158 0.793 0.390 D c 0.016 0.108 0.905 0.262 0.487 0.133 0 4.74 0.596 3.695 0.542 0.948 0.535 0.912 0.315 0.975 0.474 13.600 0.613 Cupredoxin ENSG00000159339.9|ENSG00000159339.9|ENSG00000159339.9 Brain_Cortex|Brain_Frontal_Cortex_BA9|Lung 0.5454 0.4767 0.4979 0.5775 0.5780 0.5587 0.5637 0.5545 0.5252 0.5399 0.4802 0.5432 0.5733 0.5962 0.5567 0.5624 0.5602 het 1367.51 119 1 17660499 . G C 1367.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.510;DP=119;Dels=0.00;FS=0.700;HRun=0;HaplotypeScore=2.6287;MQ=59.65;MQ0=0;MQRankSum=-0.683;QD=11.49;ReadPosRankSum=0.481;VQSLOD=6.1207;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,60:119:99:1398,0,1624 1 17662662 17662662 T C exonic PADI4 synonymous SNV PADI4:NM_012387:exon4:c.T349C:p.L117L 0.59 0.54 0.58 0.62 0.66 0.57 0.6373 0.5738 0.5278 0.6332 0.6863 0.6778 0.6192 0.5738 0.64 0.58 0.66 0.47 0.62 rs1748033 COSM3746673 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6326 0.5702 0.5325 0.6537 0.6276 0.6817 0.6768 0.6332 0.5731 0.6488 0.5772 0.5839 0.6424 0.6450 0.6718 0.6882 0.6639 het 503.14 54 1 17662662 . T C 503.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.475;DP=54;Dels=0.00;FS=2.509;HRun=2;HaplotypeScore=3.9897;MQ=58.02;MQ0=0;MQRankSum=-0.188;QD=9.32;ReadPosRankSum=-0.116;VQSLOD=4.9379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,20:54:99:533,0,935 1 17674537 17674537 C A exonic PADI4 synonymous SNV PADI4:NM_012387:exon10:c.C1149A:p.R383R 0.42 0.35 0.41 0.56 0.35 0.45 0.3895 0.3722 0.4149 0.5867 0.3462 0.3545 0.3794 0.4389 0.36 0.37 0.35 0.25 0.3 rs2240335 COSM4143062 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3887 0.3731 0.4123 0.4147 0.5831 0.3361 0.3493 0.3779 0.4369 0.3668 0.3711 0.4475 0.3907 0.6046 0.3339 0.3409 0.3709 het 804.19 91 1 17674537 . C A 804.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.722;DP=91;Dels=0.00;FS=0.878;HRun=0;HaplotypeScore=2.1101;MQ=59.18;MQ0=0;MQRankSum=0.235;QD=8.84;ReadPosRankSum=1.964;VQSLOD=5.9461;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,36:91:99:834,0,1401 1 17739586 17739586 G A exonic RCC2 synonymous SNV RCC2:NM_001136204:exon9:c.C1296T:p.I432I,RCC2:NM_018715:exon10:c.C1296T:p.I432I 0.33 0.37 0.37 0.16 0.37 0.39 0.3577 0.3934 0.3412 0.1624 0.4101 0.3635 0.34 0.4055 0.36 0.39 0.35 0.23 0.25 rs942457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3534 0.3883 0.3475 0.2454 0.1651 0.4060 0.3660 0.3314 0.4030 0.3683 0.3899 0.3505 0.2748 0.1741 0.4084 0.3688 0.3924 het 745.94 65 1 17739586 . G A 745.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.647;DP=65;Dels=0.00;FS=3.459;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.136;QD=11.48;ReadPosRankSum=0.085;VQSLOD=6.3027;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,31:65:99:776,0,850 1 17991052 17991052 T C exonic ARHGEF10L nonsynonymous SNV ARHGEF10L:NM_001319838:exon15:c.T2080C:p.W694R,ARHGEF10L:NM_001328124:exon18:c.T2305C:p.W769R,ARHGEF10L:NM_001319837:exon23:c.T2839C:p.W947R,ARHGEF10L:NM_001011722:exon24:c.T2854C:p.W952R,ARHGEF10L:NM_018125:exon26:c.T2971C:p.W991R 1. 1. 1. 1. 1. 1. 1.0000 0.9995 1 1 1 1 1 1 1. 1. 1. 1. 0.97 rs6695710 COSM4143083;COSM4143084;COSM4143082 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9992 0.9999 0.9999 1 0.9996 0.9999 0.9998 1.0000 0.9999 0.9997 1 1 1 1 1 1 hom 987.92 33 1 17991052 . T C 987.92 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=58.15;MQ0=0;QD=29.94;VQSLOD=7.8664;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:81.24:1021,81,0 1 18023365 18023365 C T exonic ARHGEF10L synonymous SNV ARHGEF10L:NM_001319838:exon18:c.C2439T:p.N813N,ARHGEF10L:NM_001328124:exon21:c.C2664T:p.N888N,ARHGEF10L:NM_001319837:exon26:c.C3198T:p.N1066N,ARHGEF10L:NM_001011722:exon27:c.C3213T:p.N1071N,ARHGEF10L:NM_018125:exon29:c.C3330T:p.N1110N 0.78 0.59 0.87 0.84 0.82 0.91 0.8169 0.6268 0.8969 0.8160 0.7810 0.8202 0.8467 0.8946 0.76 0.63 0.83 0.73 0.84 rs2270978 COSM3750657;COSM3750656;COSM3750658 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8223 0.6202 0.8898 0.8464 0.8184 0.7846 0.8207 0.8386 0.8920 0.7625 0.6163 0.8831 0.8808 0.8337 0.7785 0.8245 0.8 hom 1981.48 68 1 18023365 . C T 1981.48 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.98;MQ0=0;QD=29.14;VQSLOD=9.0940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2014,156,0 1 18023509 18023509 T C exonic ARHGEF10L synonymous SNV ARHGEF10L:NM_001319838:exon18:c.T2583C:p.D861D,ARHGEF10L:NM_001328124:exon21:c.T2808C:p.D936D,ARHGEF10L:NM_001319837:exon26:c.T3342C:p.D1114D,ARHGEF10L:NM_001011722:exon27:c.T3357C:p.D1119D,ARHGEF10L:NM_018125:exon29:c.T3474C:p.D1158D 0.83 0.72 0.88 0.9 0.82 0.91 0.8351 0.7444 0.9004 0.8931 0.7815 0.8194 0.8527 0.8920 0.81 0.76 0.83 0.74 0.6 rs2270977 COSM3750661;COSM3750660;COSM3750659 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8387 0.7405 0.8962 0.8506 0.8947 0.7819 0.8195 0.8455 0.8929 0.8031 0.7421 0.8911 0.8841 0.9036 0.7806 0.8260 0.8102 hom 1060.31 32 1 18023509 . T C 1060.31 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.95;MQ0=0;QD=33.13;VQSLOD=8.4404;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:87.27:1093,87,0 1 18023690 18023690 A G exonic ARHGEF10L nonsynonymous SNV ARHGEF10L:NM_001319838:exon18:c.A2764G:p.I922V,ARHGEF10L:NM_001328124:exon21:c.A2989G:p.I997V,ARHGEF10L:NM_001319837:exon26:c.A3523G:p.I1175V,ARHGEF10L:NM_001011722:exon27:c.A3538G:p.I1180V,ARHGEF10L:NM_018125:exon29:c.A3655G:p.I1219V 0.82 0.67 0.87 0.9 0.82 0.92 0.8355 0.7006 0.9020 0.8953 0.7883 0.8238 0.8561 0.8947 0.8 0.71 0.84 0.48 0.69 rs2270976 COSM3750662;COSM3750664;COSM3750663 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.018 0.276 N 1 0.090 P -1.195 0.008 N 0.63 0.580 T 0.26 0.044 N 0.02 0.004 -0.952 0.407 T 0.000 0.000 T . . . 0.292 0.122 5.618 0.702 0.089 0.021 0.061 N c -0.971 -0.769 0.370 0.199 0.632 0.408 0 2.98 0.334 1.226 0.320 0.073 0.181 0.841 0.301 0.996 0.625 7.746 0.279 . . . 0.8387 0.6957 0.8960 0.8499 0.8950 0.7852 0.8242 0.8462 0.8960 0.7914 0.6948 0.8878 0.8841 0.9036 0.7818 0.8293 0.8078 hom 1223.16 39 1 18023690 . A G 1223.16 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=31.36;VQSLOD=9.5518;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1256,111,0 1 18149510 18149510 G T exonic ACTL8 nonsynonymous SNV ACTL8:NM_030812:exon2:c.G7T:p.A3S 0.31 0.14 0.32 0.43 0.44 0.25 0.3921 0.2029 0.3192 0.4187 0.5284 0.4430 0.4066 0.2816 0.35 0.2 0.42 0.25 0.4 rs694214 COSM3746686 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.164 0.233 T 0.004 0.112 B 0.008 0.127 B 0.426 0.047 N 1 0.090 P -0.2 0.042 N -3.46 0.945 D -0.23 0.107 N 0.073 0.062 -1.017 0.247 T 0.000 0.000 T . . . -1.302 0.022 0.004 0.880 0.171 0.113 0.164 N c -1.276 -1.338 0.000 0.041 0.554 0.283 0 -3.42 0.045 0.210 0.171 -0.465 0.055 0.000 0.063 0.052 0.166 3.746 0.080 . . . 0.3889 0.1977 0.3176 0.4680 0.4263 0.5170 0.4302 0.4047 0.2721 0.3735 0.1932 0.3341 0.4667 0.4440 0.5046 0.4364 0.4367 het 740.31 69 1 18149510 . G T 740.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.818;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9977;MQ=59.67;MQ0=0;MQRankSum=-0.682;QD=10.73;ReadPosRankSum=0.043;VQSLOD=6.4687;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,27:69:99:770,0,1307 1 18149566 18149566 C A exonic ACTL8 synonymous SNV ACTL8:NM_030812:exon2:c.C63A:p.G21G 0.48 0.32 0.58 0.69 0.47 0.43 0.4969 0.3488 0.6865 0.6575 0.5808 0.4792 0.4912 0.4116 0.42 0.34 0.46 0.43 0.43 rs2296035 COSM3746687 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5095 0.3508 0.6786 0.5444 0.6674 0.5726 0.4664 0.5009 0.4161 0.4630 0.3370 0.6391 0.5633 0.6689 0.5633 0.4756 0.5143 het 1326.18 119 1 18149566 . C A 1326.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.889;DP=119;Dels=0.00;FS=3.897;HRun=0;HaplotypeScore=4.1893;MQ=59.30;MQ0=0;MQRankSum=-0.088;QD=11.14;ReadPosRankSum=0.019;VQSLOD=5.5784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,53:119:99:1356,0,1948 1 18807897 18807897 C G exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C422G:p.P141R 0.65 0.57 0.71 0.9 0.61 0.48 0.6493 0.5786 0.8126 0.8993 0.6345 0.6326 0.6512 0.5159 0.62 0.6 0.63 0.59 0.64 rs2992755 COSM1742560 1(urinary_tract) . . . . . . . . . . . 0.482 0.082 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N -0.68 0.726 T 0.32 0.040 N 0.037 0.017 -1.015 0.253 T 0.000 0.000 T . . . -0.317 0.067 0.607 0.758 0.109 0.010 0.037 N c -1.400 -1.365 1.000 0.407 0.545 0.220 0 1.18 0.200 0.014 0.131 -1.654 0.008 0.000 0.063 0.000 0.016 5.254 0.148 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6583 0.5810 0.8040 0.6972 0.8954 0.6454 0.6290 0.6618 0.5068 0.6361 0.5783 0.7673 0.6391 0.8776 0.6431 0.6339 0.6439 hom 1814.17 58 1 18807897 . C G 1814.17 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=31.28;VQSLOD=8.9509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1847,159,0 1 18807953 18807953 C A exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C478A:p.R160S 0.28 0.25 0.34 0.23 0.36 0.24 0.3362 0.2715 0.3790 0.2293 0.3699 0.3689 0.3650 0.2535 0.32 0.25 0.35 0.27 0.46 rs11261022 COSM3750705 1(haematopoietic_and_lymphoid_tissue);2(large_intestine);1(central_nervous_system) . . . . . . . . . . . 0.724 0.039 T 0.026 0.181 B 0.008 0.127 B 0.550 0.054 U 1 0.090 P 0.69 0.170 N -0.62 0.719 T 0.34 0.038 N 0.033 0.013 -1.049 0.146 T 0.000 0.000 T . . . -0.191 0.077 1.144 0.886 0.176 0.051 0.108 N c -1.576 -1.611 1.000 0.473 0.387 0.051 2 -3.99 0.038 -4.109 0.003 -1.000 0.022 0.000 0.063 0.001 0.043 2.446 0.042 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Lung|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3386 0.2719 0.3695 0.3951 0.2279 0.3720 0.3661 0.3703 0.2528 0.3286 0.2668 0.3657 0.3907 0.2292 0.3786 0.3580 0.3635 hom 2830.55 88 1 18807953 . C A 2830.55 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9962;MQ=58.65;MQ0=0;QD=32.17;VQSLOD=8.8923;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2864,226,0 1 18808292 18808292 C A exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C817A:p.H273N 0.67 0.66 0.73 0.9 0.61 0.48 0.6539 0.6651 0.8149 0.8996 0.6345 0.6310 0.6582 0.5053 0.64 0.67 0.63 0.62 0.63 rs2992753 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.182 0.171 N 1 0.090 P -2.135 0.001 N -0.31 0.680 T 1.5 0.007 N 0.012 0.001 -0.948 0.413 T 0.000 0.000 T . . . 0.181 0.111 4.482 0.296 0.016 0.041 0.094 N c -1.052 -0.824 1.000 0.434 0.487 0.133 0 4.92 0.640 3.380 0.519 0.125 0.212 0.918 0.317 0.947 0.422 10.544 0.440 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6638 0.6700 0.8076 0.6959 0.8954 0.6439 0.6283 0.6655 0.5068 0.6624 0.6702 0.7745 0.6391 0.8781 0.6420 0.6345 0.6469 hom 5402.15 169 1 18808292 . C A 5402.15 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7591;MQ=59.46;MQ0=0;QD=31.97;VQSLOD=8.8115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5402,436,0 1 18808465 18808465 T A exonic KLHDC7A synonymous SNV KLHDC7A:NM_152375:exon1:c.T990A:p.A330A 0.67 0.66 0.73 0.89 0.61 0.48 0.6557 0.6701 0.8170 0.8988 0.6397 0.6324 0.6540 0.5058 0.64 0.66 0.63 0.62 0.58 rs3007718 COSM3722302 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6646 0.6721 0.8079 0.6961 0.8950 0.6445 0.6288 0.6642 0.5065 0.6621 0.6699 0.7745 0.6367 0.8782 0.6418 0.6340 0.6459 hom 1096.55 36 1 18808465 . T A 1096.55 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2859;MQ=58.71;MQ0=0;QD=30.46;VQSLOD=8.4087;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:36:93.28:1130,93,0 1 18808526 18808526 A C exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.A1051C:p.T351P 0.67 0.66 0.73 0.89 0.61 0.48 0.6552 0.6690 0.8169 0.8983 0.6390 0.6318 0.6519 0.5065 0.64 0.66 0.63 0.64 0.59 rs2992752 COSM424852 4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.496 0.051 N 1 0.090 P -2.005 0.002 N -0.57 0.713 T 2.23 0.003 N 0.053 0.035 -0.969 0.374 T 0.000 0.000 T . . . -2.153 0.006 0.001 0.086 0.001 0.021 0.062 N c -1.876 -1.772 1.000 0.409 0.487 0.133 0 0.69 0.171 -0.725 0.050 -0.975 0.023 0.000 0.063 0.000 0.016 3.866 0.085 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6640 0.6707 0.8079 0.6961 0.8947 0.6435 0.6277 0.6648 0.5071 0.6622 0.6704 0.7763 0.6391 0.8778 0.6421 0.6339 0.6469 hom 1150.74 35 1 18808526 . A C 1150.74 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=32.88;VQSLOD=9.1507;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:93.29:1184,93,0 1 19175846 19175846 T C exonic TAS1R2 nonsynonymous SNV TAS1R2:NM_152232:exon4:c.A1456G:p.I486V 0.13 0.14 0.24 0.002 0.21 0.07 0.1755 0.1441 0.2150 0.0020 0.2462 0.2069 0.1938 0.1028 0.19 0.15 0.21 0.15 0.19 rs28374389 COSM4986357 8(soft_tissue);1(pancreas) . . . . . . . . . . . 0.276 0.157 T 0.0 0.026 B 0.0 0.013 B 0.168 0.174 N 1 0.090 P 0.69 0.170 N -2.34 0.880 D 0.49 0.030 N 0.014 0.002 -1.105 0.035 T 0.000 0.000 T . . . -0.985 0.033 0.017 0.585 0.059 0.015 0.048 N c -1.387 -1.388 0.000 0.055 0.497 0.185 0 -1.92 0.072 -0.517 0.063 -0.954 0.024 0.000 0.063 0.885 0.372 9.840 0.400 . . . 0.1799 0.1460 0.2092 0.1954 0.0020 0.2517 0.2079 0.1870 0.1067 0.1933 0.1423 0.2315 0.1887 0.0018 0.2556 0.2263 0.2086 het 967.14 66 1 19175846 . T C 967.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.344;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5757;MQ=59.05;MQ0=0;MQRankSum=0.439;QD=14.65;ReadPosRankSum=-0.401;VQSLOD=6.2664;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,37:66:99:997,0,748 1 19186129 19186129 G C exonic TAS1R2 nonsynonymous SNV TAS1R2:NM_152232:exon1:c.C26G:p.S9C 0.8 0.82 0.84 0.77 0.78 0.78 0.7804 0.8181 0.8332 0.7517 0.7009 0.7755 0.75 0.7880 0.79 0.83 0.77 0.87 0.75 rs9701796 COSM3746703 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.675 0.000 N -2.47 0.890 D 2.02 0.004 N 0.061 0.045 -0.963 0.387 T 0.000 0.000 T . . . -2.170 0.006 0.001 0.564 0.054 0.002 0.010 N c -1.595 -1.511 0.000 0.029 0.447 0.083 0 1.14 0.197 -0.020 0.124 -0.478 0.053 0.000 0.063 0.004 0.083 8.487 0.321 . . . 0.7815 0.8159 0.8301 0.8186 0.7566 0.6902 0.7785 0.7886 0.7890 0.7696 0.8202 0.8270 0.7815 0.7550 0.6887 0.7591 0.7393 hom 3656.48 110 1 19186129 . G C 3656.48 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4787;MQ=58.95;MQ0=0;QD=33.24;VQSLOD=8.6540;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3656,280,0 1 19201956 19201956 A G exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001319218:exon12:c.T1227C:p.D409D,ALDH4A1:NM_001161504:exon13:c.T1200C:p.D400D,ALDH4A1:NM_003748:exon13:c.T1380C:p.D460D,ALDH4A1:NM_170726:exon13:c.T1380C:p.D460D 0.74 0.7 0.81 0.71 0.74 0.76 0.7298 0.6894 0.8260 0.7163 0.6986 0.7175 0.7208 0.7575 0.7 0.68 0.71 0.72 0.64 rs2230708 . . Benign Hyperprolinemia RCV000316598.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7323 0.6882 0.8184 0.7179 0.7132 0.6822 0.7192 0.7393 0.7578 0.6951 0.6823 0.7959 0.6987 0.7140 0.6725 0.6993 0.7070 het 1361.92 142 1 19201956 . A G 1361.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.512;DP=142;Dels=0.00;FS=3.122;HRun=0;HaplotypeScore=4.1164;MQ=59.40;MQ0=0;MQRankSum=0.954;QD=9.59;ReadPosRankSum=-0.230;VQSLOD=5.3178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,57:142:99:1392,0,2382 1 19202896 19202896 G A exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001161504:exon12:c.C1071T:p.A357A,ALDH4A1:NM_003748:exon12:c.C1251T:p.A417A,ALDH4A1:NM_170726:exon12:c.C1251T:p.A417A 0.52 0.46 0.65 0.6 0.45 0.49 0.5069 0.4468 0.7109 0.6211 0.4430 0.4738 0.5056 0.5007 0.45 0.44 0.46 0.51 0.24 rs2230707 COSM4143136;COSM4143135 1(thyroid);1(large_intestine) Likely benign Hyperprolinemia RCV000295896.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5110 0.4397 0.6940 0.4964 0.6119 0.4345 0.4696 0.5110 0.4988 0.4583 0.4380 0.6468 0.4967 0.6035 0.4390 0.4470 0.4682 het 1095.72 67 1 19202896 . G A 1095.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.082;DP=67;Dels=0.00;FS=2.508;HRun=0;HaplotypeScore=4.5456;MQ=58.96;MQ0=0;MQRankSum=1.500;QD=16.35;ReadPosRankSum=-0.563;VQSLOD=4.8755;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,38:67:99:1126,0,857 1 19202917 19202917 T C exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001161504:exon12:c.A1050G:p.S350S,ALDH4A1:NM_003748:exon12:c.A1230G:p.S410S,ALDH4A1:NM_170726:exon12:c.A1230G:p.S410S 0.66 0.47 0.77 0.71 0.71 0.74 0.7024 0.5050 0.8090 0.7275 0.6789 0.7011 0.6974 0.7487 0.62 0.48 0.69 0.56 0.37 rs7550938 COSM1337325;COSM1337326 1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) Benign Hyperprolinemia RCV000350845.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6990 0.4836 0.7950 0.6881 0.7146 0.6512 0.6943 0.7086 0.7419 0.6232 0.4823 0.7632 0.66 0.7148 0.6503 0.6768 0.6784 het 505.98 45 1 19202917 . T C 505.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.478;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3901;MQ=58.97;MQ0=0;MQRankSum=0.114;QD=11.24;ReadPosRankSum=0.419;VQSLOD=5.2918;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,25:45:99:536,0,470 1 19202926 19202926 T C exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001161504:exon12:c.A1041G:p.A347A,ALDH4A1:NM_003748:exon12:c.A1221G:p.A407A,ALDH4A1:NM_170726:exon12:c.A1221G:p.A407A 0.66 0.47 0.77 0.7 0.71 0.74 0.7061 0.5095 0.8123 0.7310 0.6821 0.7043 0.6975 0.7509 0.62 0.48 0.69 0.58 0.26 rs2230706 COSM1337328;COSM1337327 1(kidney);1(thyroid) Benign Hyperprolinemia RCV000397654.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6985 0.4825 0.7944 0.6896 0.7132 0.6489 0.6930 0.7087 0.7421 0.6223 0.4818 0.7620 0.66 0.7137 0.6503 0.6756 0.6776 het 390.06 33 1 19202926 . T C 390.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5506;MQ=59.30;MQ0=0;MQRankSum=1.246;QD=11.82;ReadPosRankSum=1.246;VQSLOD=4.2394;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:420,0,314 1 19203997 19203997 C G exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001161504:exon10:c.G870C:p.A290A,ALDH4A1:NM_001319218:exon10:c.G1050C:p.A350A,ALDH4A1:NM_003748:exon10:c.G1050C:p.A350A,ALDH4A1:NM_170726:exon10:c.G1050C:p.A350A 0.64 0.73 0.74 0.47 0.71 0.56 0.7072 0.7378 0.7631 0.5004 0.8077 0.7353 0.7132 0.6051 0.71 0.72 0.71 0.69 0.66 rs2230705 COSM424869;COSM1473186 1(breast);2(thyroid);1(large_intestine) Benign Hyperprolinemia RCV000267887.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6899 0.7223 0.7466 0.6149 0.4518 0.8004 0.7184 0.7007 0.5899 0.7197 0.7211 0.7279 0.6159 0.4439 0.7994 0.7301 0.7474 het 363.05 34 1 19203997 . C G 363.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.107;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.090;QD=10.68;ReadPosRankSum=0.702;VQSLOD=12.0030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,17:34:99:393,0,490 1 19411129 19411129 A G exonic UBR4 synonymous SNV UBR4:NM_020765:exon102:c.T14877C:p.H4959H 0.72 0.84 0.73 0.81 0.61 0.57 0.6447 0.8051 0.8129 0.8122 0.5252 0.6036 0.5773 0.5557 0.67 0.81 0.6 0.71 0.6 rs1043905 COSM3750714;COSM5827644;COSM4783669;COSM3750713 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6450 0.8033 0.7925 0.5685 0.8142 0.5235 0.6106 0.6202 0.5523 0.6701 0.8088 0.7883 0.57 0.7974 0.5284 0.6081 0.6063 het 1303.69 103 1 19411129 . A G 1303.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.386;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;MQRankSum=0.736;QD=12.66;ReadPosRankSum=0.300;VQSLOD=7.2795;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1334,0,1491 1 19413261 19413261 T A exonic UBR4 nonsynonymous SNV UBR4:NM_020765:exon100:c.A14599T:p.M4867L 0.6 0.54 0.68 0.76 0.58 0.49 0.5830 0.5470 0.7738 0.7618 0.5058 0.5674 0.5365 0.4748 0.56 0.55 0.57 0.61 0.54 rs12584 COSM5827646;COSM3750715;COSM3750716;COSM4783674 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.163 0.234 T 0.0 0.026 B 0.0 0.013 B 0.001 0.437 N 0.751 0.296 P -0.345 0.033 N 1.64 0.278 T -0.11 0.087 N 0.045 0.071 -1.040 0.172 T 0.000 0.000 T . . . 2.334 0.342 18.39 0.875 0.167 0.751 0.365 D c -0.628 -0.417 0.965 0.288 0.707 0.730 0 0.893 0.183 2.611 0.458 0.964 0.580 1.000 0.715 1.000 0.888 5.268 0.148 . ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid 0.5888 0.5405 0.7552 0.5501 0.7636 0.5018 0.5726 0.5718 0.4707 0.5690 0.5376 0.7326 0.5497 0.7478 0.5057 0.5750 0.5520 het 669.01 61 1 19413261 . T A 669.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.410;DP=61;Dels=0.00;FS=0.982;HRun=1;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=-1.126;QD=10.97;ReadPosRankSum=-1.141;VQSLOD=5.0809;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,27:61:99:699,0,898 1 19415304 19415304 C T exonic UBR4 synonymous SNV UBR4:NM_020765:exon98:c.G14379A:p.K4793K 0.59 0.51 0.68 0.76 0.58 0.48 0.5807 0.5249 0.7729 0.7607 0.5059 0.5671 0.5341 0.4744 0.55 0.53 0.57 0.61 0.54 rs1043899 COSM3750718;COSM3750717;COSM5827648;COSM4783648 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5871 0.5187 0.7545 0.5498 0.7622 0.5019 0.5724 0.5715 0.4703 0.5611 0.5116 0.7314 0.5430 0.7450 0.5057 0.5743 0.5532 het 1182.18 108 1 19415304 . C T 1182.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.561;DP=108;Dels=0.00;FS=6.260;HRun=2;HaplotypeScore=2.8100;MQ=59.77;MQ0=0;MQRankSum=0.730;QD=10.95;ReadPosRankSum=-0.280;VQSLOD=5.1060;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,50:108:99:1212,0,1681 1 19433449 19433449 A G exonic UBR4 synonymous SNV UBR4:NM_020765:exon82:c.T12117C:p.V4039V 0.72 0.84 0.73 0.81 0.61 0.57 0.6461 0.8057 0.8138 0.8107 0.5322 0.6048 0.5766 0.5574 0.67 0.81 0.6 0.7 0.6 rs6426677 COSM4783664;COSM3750719;COSM3750720;COSM5827655 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6452 0.8027 0.7925 0.5715 0.8143 0.5236 0.6104 0.6202 0.5529 0.6702 0.8089 0.7902 0.5695 0.8015 0.5284 0.6078 0.6066 het 517.01 46 1 19433449 . A G 517.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.125;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6421;MQ=60.00;MQ0=0;MQRankSum=-0.221;QD=11.24;ReadPosRankSum=0.287;VQSLOD=6.1963;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,21:46:99:547,0,741 1 19447843 19447843 C G exonic UBR4 synonymous SNV UBR4:NM_020765:exon68:c.G9981C:p.L3327L 0.6 0.54 0.68 0.76 0.58 0.48 0.5831 0.5492 0.7736 0.7611 0.5056 0.5682 0.5366 0.4715 0.56 0.55 0.57 0.62 0.47 rs1044010 COSM5827658;COSM4783706;COSM3750721;COSM1337405 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5888 0.5422 0.7551 0.5497 0.7631 0.5019 0.5733 0.5718 0.4673 0.5701 0.5401 0.7321 0.5497 0.7488 0.5077 0.5752 0.5553 het 1516.41 112 1 19447843 . C G 1516.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.640;DP=112;Dels=0.00;FS=8.855;HRun=0;HaplotypeScore=3.5553;MQ=58.63;MQ0=0;MQRankSum=0.017;QD=13.54;ReadPosRankSum=0.320;VQSLOD=4.5542;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1546,0,1685 1 19499560 19499560 T C exonic UBR4 nonsynonymous SNV UBR4:NM_020765:exon25:c.A3319G:p.T1107A 0.14 0.28 0.17 0.011 0.16 0.031 0.1445 0.2545 0.2150 0.0087 0.1192 0.1586 0.1509 0.0496 0.19 0.25 0.16 0.18 0.16 rs16862578 COSM4778190;COSM146428;COSM4778191;COSM3927619 1(stomach);6(prostate) . . . . . . . . . . . 0.13 0.267 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 0.301 0.334 P 0.55 0.145 N 0.96 0.429 T -0.65 0.189 N 0.077 0.134 -1.025 0.221 T 0.000 0.000 T . . . 0.545 0.146 7.768 0.988 0.458 0.977 0.762 D c -0.257 -0.013 0.954 0.281 0.707 0.730 0 4.82 0.615 4.706 0.613 1.061 0.807 1.000 0.715 0.995 0.604 6.841 0.230 . ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Testis 0.1464 0.2508 0.2107 0.2157 0.0080 0.1234 0.1580 0.1588 0.0524 0.1745 0.2559 0.2208 0.2285 0.0068 0.1180 0.1567 0.1446 het 1344.99 91 1 19499560 . T C 1344.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.101;DP=91;Dels=0.00;FS=0.783;HRun=0;HaplotypeScore=1.7219;MQ=58.92;MQ0=0;MQRankSum=1.991;QD=14.78;ReadPosRankSum=-0.266;VQSLOD=6.0240;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,48:91:99:1375,0,1103 1 19566881 19566881 C T exonic EMC1 synonymous SNV EMC1:NM_001271429:exon6:c.G630A:p.E210E,EMC1:NM_001271427:exon7:c.G696A:p.E232E,EMC1:NM_001271428:exon7:c.G696A:p.E232E,EMC1:NM_015047:exon7:c.G696A:p.E232E 0.086 0.11 0.15 0.001 0.17 0.022 0.1278 0.1094 0.1886 0.0010 0.1181 0.1585 0.1347 0.0425 0.14 0.11 0.16 0.15 0.12 rs12084825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1324 0.1018 0.1911 0.2091 0.0010 0.1211 0.1581 0.1449 0.0452 0.1311 0.1057 0.2029 0.2219 0.0012 0.1168 0.1573 0.1337 het 1800.83 137 1 19566881 . C T 1800.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.418;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1361;MQ=59.07;MQ0=0;MQRankSum=-0.158;QD=13.14;ReadPosRankSum=-0.769;VQSLOD=5.7004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,76:137:99:1831,0,1506 1 19595137 19595137 C T exonic AKR7L unknown UNKNOWN 0.67 0.4 0.73 0.8 0.69 0.81 0.6876 0.4364 0.7562 0.7769 0.7591 0.6719 0.6965 0.7847 0.59 0.44 0.67 0.49 0.63 rs2235795 . . . . . . . . . . . . . . . . 0.003 0.102 B 0.011 0.145 B 0.039 0.242 N 1 0.090 P . . . . . . . . . 0.312 0.373 -1.041 0.169 T 0.000 0.000 T . . . 0.730 0.164 9.025 0.962 0.285 0.039 0.091 N c -1.316 -1.436 0.474 0.207 0.208 0.033 0 -4.47 0.033 -0.273 0.085 -0.603 0.044 0.000 0.063 0.000 0.016 7.771 0.280 NADP-dependent oxidoreductase domain ENSG00000053372.4|ENSG00000053372.4 Esophagus_Mucosa|Muscle_Skeletal 0.6932 0.4359 0.7480 0.6172 0.7733 0.7604 0.6690 0.6915 0.7800 0.6188 0.4293 0.7117 0.6358 0.7813 0.7611 0.6681 0.6922 het 1475.17 121 1 19595137 . C T 1475.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.649;DP=121;Dels=0.00;FS=4.550;HRun=0;HaplotypeScore=3.9944;MQ=59.26;MQ0=0;MQRankSum=-0.569;QD=12.19;ReadPosRankSum=1.550;VQSLOD=4.2551;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,64:121:99:1505,0,1419 1 19611227 19611227 G A exonic AKR7A3 synonymous SNV AKR7A3:NM_012067:exon5:c.C657T:p.P219P 0.15 0.13 0.14 0.026 0.18 0.27 0.1678 0.1322 0.0860 0.0124 0.1653 0.1818 0.1971 0.2720 0.17 0.13 0.18 0.087 0.18 rs1065658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1643 0.1266 0.0928 0.2136 0.0114 0.1614 0.1801 0.1802 0.2726 0.1461 0.1231 0.1079 0.22 0.0111 0.1666 0.1694 0.1534 het 2210 176 1 19611227 . G A 2210 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.113;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7906;MQ=59.24;MQ0=0;MQRankSum=-0.124;QD=12.56;ReadPosRankSum=0.610;VQSLOD=4.1662;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,88:176:99:2240,0,2195 1 19611241 19611241 T C exonic AKR7A3 nonsynonymous SNV AKR7A3:NM_012067:exon5:c.A643G:p.N215D 0.81 0.64 0.86 0.85 0.86 0.9 0.8247 0.6594 0.8398 0.8202 0.8638 0.8320 0.8194 0.8752 0.77 0.66 0.83 0.71 0.8 rs1738023 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.090 P . . . 1.89 0.237 T 2.58 0.002 N 0.009 0.001 -0.957 0.397 T 0.000 0.000 T . . . -0.428 0.060 0.332 0.370 0.024 0.024 0.067 N c -0.993 -0.910 0.011 0.122 0.554 0.283 0 3.02 0.338 0.857 0.273 -0.153 0.108 1.000 0.715 0.919 0.394 8.979 0.349 NADP-dependent oxidoreductase domain . . 0.8264 0.6531 0.8380 0.7790 0.8180 0.8648 0.8320 0.8280 0.8713 0.7817 0.6489 0.8210 0.7833 0.8249 0.8694 0.8275 0.8330 het 2039.63 166 1 19611241 . T C 2039.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.651;DP=166;Dels=0.00;FS=0.573;HRun=1;HaplotypeScore=5.8570;MQ=59.35;MQ0=0;MQRankSum=-0.296;QD=12.29;ReadPosRankSum=-0.887;VQSLOD=5.0563;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:82,84:166:99:2070,0,2097 1 19652063 19652063 G A exonic PQLC2 synonymous SNV PQLC2:NM_001040125:exon4:c.G369A:p.T123T,PQLC2:NM_001040126:exon4:c.G174A:p.T58T,PQLC2:NM_001287531:exon4:c.G36A:p.T12T,PQLC2:NM_017765:exon5:c.G369A:p.T123T 0.21 0.16 0.18 0.083 0.29 0.33 0.2477 0.1853 0.1165 0.0817 0.2678 0.2819 0.2761 0.3183 0.25 0.18 0.29 0.22 0.3 rs11558390 COSM3750722 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2423 0.1840 0.1277 0.2586 0.0797 0.2650 0.2832 0.2441 0.3171 0.2343 0.1782 0.1566 0.3013 0.0983 0.2707 0.2746 0.2598 het 777.46 67 1 19652063 . G A 777.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.505;DP=67;Dels=0.00;FS=3.821;HRun=0;HaplotypeScore=3.4742;MQ=58.04;MQ0=0;MQRankSum=-1.041;QD=11.60;ReadPosRankSum=0.450;VQSLOD=4.3868;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,31:67:99:807,0,968 1 19950062 19950062 T C exonic MINOS1 synonymous SNV MINOS1:NM_001204082:exon2:c.T159C:p.H53H,MINOS1:NM_001032363:exon3:c.T207C:p.H69H,MINOS1:NM_001204083:exon3:c.T207C:p.H69H 0.35 0.7 0.2 0.14 0.23 0.29 0.2465 0.6529 0.1507 0.1741 0.2516 0.2090 0.2104 0.2473 0.35 0.65 0.2 0.4 0.19 rs1737428 COSM3997128 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2340 0.6575 0.1600 0.1587 0.1765 0.2451 0.2087 0.2171 0.2474 0.3357 0.6542 0.1770 0.1258 0.1921 0.2342 0.2091 0.2387 het 1583.38 138 1 19950062 . T C 1583.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.403;DP=138;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7840;MQ=59.39;MQ0=0;MQRankSum=-0.128;QD=11.47;ReadPosRankSum=-3.223;VQSLOD=4.4578;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,63:138:99:1613,0,2153 1 20005822 20005822 C T exonic HTR6 synonymous SNV HTR6:NM_000871:exon3:c.C1284T:p.P428P 0.011 0.0008 0.0043 0.016 0.007 0.027 0.0137 0.0049 0.0071 0.0223 0.0095 0.0104 0.0152 0.0344 0.0069 0.0029 0.0088 0.011 0.0082 rs8192534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0118 0.0034 0.0070 0.0037 0.0184 0.0086 0.0105 0.0086 0.0267 0.0088 0.0036 0.0119 0.0066 0.0185 0.0086 0.0108 0.0061 het 191.54 19 1 20005822 . C T 191.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.857;DP=19;Dels=0.00;FS=1.952;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.286;QD=10.08;ReadPosRankSum=-1.347;VQSLOD=5.7803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,10:19:99:222,0,201 1 20020993 20020993 A G exonic TMCO4 synonymous SNV TMCO4:NM_001349112:exon14:c.T1434C:p.R478R,TMCO4:NM_001349113:exon15:c.T1434C:p.R478R,TMCO4:NM_181719:exon15:c.T1434C:p.R478R,TMCO4:NM_001349114:exon16:c.T1434C:p.R478R 0.66 0.53 0.68 0.58 0.8 0.76 0.7615 0.5714 0.6241 0.6000 0.8413 0.8203 0.7987 0.7906 0.73 0.57 0.81 0.2 0.53 rs4370779 COSM3997130 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7590 0.5706 0.6309 0.7775 0.5867 0.8495 0.8210 0.7702 0.7902 0.7392 0.5708 0.6519 0.7881 0.5954 0.8523 0.8252 0.8184 hom 6197.72 217 1 20020993 . A G 6197.72 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.69;MQ0=0;QD=28.56;VQSLOD=6.2904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6196,526,0 1 20020994 20020994 C T exonic TMCO4 nonsynonymous SNV TMCO4:NM_001349112:exon14:c.G1433A:p.R478H,TMCO4:NM_001349113:exon15:c.G1433A:p.R478H,TMCO4:NM_181719:exon15:c.G1433A:p.R478H,TMCO4:NM_001349114:exon16:c.G1433A:p.R478H 0.43 0.19 0.54 0.28 0.67 0.59 0.5734 0.2555 0.4925 0.2687 0.7067 0.6521 0.6308 0.6150 0.51 0.26 0.64 . 0.5 rs4515815 COSM4415151 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.194 0.208 T 0.006 0.322 B 0.004 0.208 B 0.848 0.070 N 1.000 0.182 P 1.055 0.270 L 0.84 0.475 T -0.19 0.100 N 0.059 0.043 -0.960 0.393 T 0.000 0.000 T . . . 0.629 0.154 8.358 0.925 0.213 0.016 0.051 N c -1.361 -1.440 0.868 0.253 0.707 0.730 0 -3.89 0.039 -0.026 0.122 -0.346 0.071 0.010 0.182 0.031 0.148 11.943 0.520 . ENSG00000158748.3 Whole_Blood 0.5761 0.2492 0.4953 0.5891 0.2691 0.7121 0.6533 0.5989 0.6125 0.5065 0.2468 0.5132 0.6126 0.2751 0.6972 0.6274 0.6391 het 2665.54 220 1 20020994 . C T 2665.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.251;DP=220;Dels=0.00;FS=1.811;HRun=0;HaplotypeScore=0.9993;MQ=59.70;MQ0=0;MQRankSum=-0.874;QD=12.12;ReadPosRankSum=-0.563;VQSLOD=6.2414;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:110,110:220:99:2696,0,2808 1 20246876 20246876 C T exonic PLA2G2E nonsynonymous SNV PLA2G2E:NM_014589:exon4:c.G353A:p.R118H 0.094 0.087 0.043 0.15 0.088 0.081 0.0936 0.0871 0.0486 0.1513 0.1011 0.0987 0.0850 0.0758 0.089 0.084 0.091 0.087 0.066 rs61729970 . . . . . . . . . . . . . 0.211 0.195 T 0.003 0.102 B 0.014 0.158 B 0.224 0.035 N 1 0.090 P 0.77 0.194 N 1.64 0.278 T -1.77 0.418 N 0.023 0.007 -1.058 0.121 T 0.000 0.002 T . . . 1.478 0.240 13.20 0.944 0.241 0.004 0.019 N c -1.301 -1.372 1.000 0.517 0.428 0.059 0 -7.18 0.013 -0.744 0.049 -0.264 0.087 0.000 0.063 0.834 0.348 16.572 0.844 Phospholipase A2 domain . . 0.0901 0.0865 0.0497 0.0911 0.1544 0.0988 0.0950 0.0861 0.0765 0.1010 0.0858 0.0609 0.1192 0.1634 0.1043 0.1041 0.1039 het 1021.19 74 1 20246876 . C T 1021.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.582;DP=74;Dels=0.00;FS=3.412;HRun=0;HaplotypeScore=4.3302;MQ=59.44;MQ0=0;MQRankSum=-0.371;QD=13.80;ReadPosRankSum=1.746;VQSLOD=4.8233;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,40:74:99:1051,0,827 1 20304926 20304926 G A exonic PLA2G2A synonymous SNV PLA2G2A:NM_001161728:exon3:c.C132T:p.Y44Y,PLA2G2A:NM_001161729:exon3:c.C132T:p.Y44Y,PLA2G2A:NM_000300:exon4:c.C132T:p.Y44Y,PLA2G2A:NM_001161727:exon4:c.C132T:p.Y44Y 0.11 0.097 0.11 0.027 0.21 0.095 0.1848 0.0998 0.0790 0.0305 0.2552 0.2481 0.1727 0.1193 0.17 0.099 0.21 0.13 0.3 rs4744 COSM1132970 1(liver);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1768 0.1028 0.0899 0.1326 0.0300 0.2466 0.2425 0.1830 0.1203 0.1989 0.1061 0.1050 0.1291 0.0321 0.2477 0.2623 0.2587 het 729.14 63 1 20304926 . G A 729.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.929;DP=63;Dels=0.00;FS=1.156;HRun=0;HaplotypeScore=3.5716;MQ=58.89;MQ0=0;MQRankSum=-1.517;QD=11.57;ReadPosRankSum=0.490;VQSLOD=5.4607;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,28:63:99:759,0,657 1 20411332 20411332 C T exonic PLA2G5 synonymous SNV PLA2G5:NM_000929:exon2:c.C9T:p.G3G 0.25 0.095 0.26 0.31 0.34 0.31 0.3298 0.1250 0.2351 0.3062 0.4152 0.3696 0.3689 0.3399 0.27 0.13 0.35 0.2 0.37 rs2020887 COSM146435 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3263 0.1196 0.2312 0.3638 0.3088 0.4156 0.3601 0.3518 0.3391 0.2998 0.1142 0.2464 0.3733 0.3288 0.4156 0.3732 0.3996 het 1965.19 195 1 20411332 . C T 1965.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.649;DP=195;Dels=0.00;FS=0.546;HRun=0;HaplotypeScore=4.4223;MQ=59.38;MQ0=0;MQRankSum=1.067;QD=10.08;ReadPosRankSum=-0.112;VQSLOD=5.8959;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,86:195:99:1995,0,2844 1 20442054 20442054 T C exonic PLA2G2D nonsynonymous SNV PLA2G2D:NM_012400:exon3:c.A238G:p.S80G 0.77 0.97 0.7 0.76 0.59 0.75 0.6607 0.9161 0.6828 0.7723 0.5920 0.5855 0.6498 0.7579 0.69 0.9 0.58 0.79 0.63 rs584367 COSM3750787 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.864 0.026 T 0.0 0.026 B 0.0 0.013 B 0.017 0.015 N 1 0.090 P 0.105 0.085 N 1.68 0.272 T 1.49 0.007 N 0.035 0.016 -0.975 0.362 T 0.000 0.000 T . . . -2.310 0.005 0.001 0.456 0.035 0.034 0.085 N c -1.922 -1.919 0.909 0.263 0.526 0.212 0 -4.38 0.034 -1.315 0.028 -2.592 0.002 0.000 0.063 0.000 0.016 1.181 0.017 Phospholipase A2 domain . . 0.6573 0.9203 0.6853 0.5957 0.7753 0.5933 0.5853 0.6484 0.7586 0.6942 0.9226 0.6718 0.5960 0.7825 0.6002 0.5829 0.5941 het 1241.80 123 1 20442054 . T C 1241.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.522;DP=123;Dels=0.00;FS=0.677;HRun=1;HaplotypeScore=3.8074;MQ=58.08;MQ0=0;MQRankSum=0.973;QD=10.10;ReadPosRankSum=-0.368;VQSLOD=5.4583;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,56:123:99:1272,0,1743 1 20490518 20490518 T C exonic PLA2G2C nonsynonymous SNV PLA2G2C:NM_001316722:exon4:c.A410G:p.Q137R 0.66 0.75 0.49 0.73 0.58 0.67 0.6079 0.7306 0.4106 0.7346 0.5347 0.5909 0.5833 0.7010 0.64 0.72 0.59 0.66 . rs6426616 COSM3746742 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.911 0.024 T 0.0 0.026 B 0.001 0.040 B 0.051 0.020 N 1 0.090 P -1.76 0.003 N 1.73 0.264 T 1.21 0.011 N 0.021 0.011 -0.948 0.414 T 0.000 0.000 T . . . -0.753 0.042 0.055 0.560 0.053 0.018 0.055 N c -1.008 -0.815 0.001 0.085 0.487 0.133 0 3.36 0.374 0.116 0.153 -0.384 0.065 0.991 0.370 0.009 0.108 5.563 0.163 Phospholipase A2 domain ENSG00000227066.1 Artery_Coronary 0.5902 0.7238 0.4101 0.6186 0.7280 0.5280 0.5855 0.5765 0.6988 0.6183 0.7183 0.4678 0.6192 0.7255 0.5306 0.5803 0.5724 hom 994.34 33 1 20490518 . T C 994.34 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;QD=30.13;VQSLOD=9.2598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:81.25:1027,81,0 1 20915701 20915701 A C exonic CDA nonsynonymous SNV CDA:NM_001785:exon1:c.A79C:p.K27Q 0.19 0.067 0.31 0.12 0.31 0.23 0.2758 0.0914 0.2784 0.1253 0.2044 0.3427 0.2671 0.2272 0.26 0.1 0.35 0.17 0.27 rs2072671 COSM3750847 1(breast);2(haematopoietic_and_lymphoid_tissue);7(soft_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.308 0.141 T 0.004 0.112 B 0.005 0.104 B 0.001 0.394 N 0.000 0.489 P 1.17 0.299 L 0.98 0.421 T -0.29 0.117 N 0.164 0.238 -0.964 0.384 T 0.000 0.000 T . . . 1.907 0.290 15.63 0.972 0.322 0.532 0.291 D c -0.293 -0.089 1.000 0.747 0.726 0.872 0 3.98 0.452 1.373 0.337 1.199 0.960 0.999 0.424 1.000 0.888 7.795 0.281 Cytidine and deoxycytidylate deaminases\x2c zinc-binding|Cytidine deaminase-like ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158828.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Whole_Blood 0.2798 0.0846 0.2882 0.4322 0.1202 0.1995 0.3454 0.3038 0.2252 0.2258 0.0870 0.2852 0.4172 0.1222 0.1911 0.3161 0.2710 het 757.65 82 1 20915701 . A C 757.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.119;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=-0.440;QD=9.24;ReadPosRankSum=-0.622;VQSLOD=6.7718;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,31:82:99:788,0,1360 1 20945055 20945055 C T exonic CDA synonymous SNV CDA:NM_001785:exon4:c.C435T:p.T145T 0.31 0.38 0.32 0.24 0.32 0.27 0.3088 0.3883 0.2973 0.2393 0.3271 0.3166 0.2777 0.2660 0.34 0.4 0.31 0.43 0.33 rs1048977 COSM146436 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3069 0.3868 0.3078 0.2422 0.2387 0.3225 0.3207 0.2993 0.2651 0.3364 0.3875 0.3278 0.2053 0.2466 0.3072 0.3275 0.3189 het 771.89 64 1 20945055 . C T 771.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.366;DP=64;Dels=0.00;FS=0.955;HRun=0;HaplotypeScore=1.8664;MQ=59.12;MQ0=0;MQRankSum=-0.383;QD=12.06;ReadPosRankSum=-0.881;VQSLOD=6.5890;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,30:64:99:802,0,948 1 20972111 20972111 G A exonic PINK1 nonsynonymous SNV PINK1:NM_032409:exon5:c.G1018A:p.A340T 0.12 0.011 0.058 0.27 0.046 0.24 0.0921 0.0172 0.1044 0.2733 0.0905 0.0469 0.0916 0.2191 0.037 0.018 0.047 0.043 0.11 rs3738136 . . Likely benign Parkinson_Disease\x2c_Recessive RCV000322826.1 MedGen CN239372 . . . . . . 1.0 0.010 T 0.001 0.090 B 0.001 0.063 B 0.000 0.443 N 1 0.090 P 0.425 0.126 N -0.82 0.741 T 1.34 0.009 N 0.114 0.124 -1.075 0.084 T 0.000 0.000 T . . . 0.341 0.127 6.083 0.759 0.109 0.215 0.212 N c -0.991 -0.827 0.440 0.204 0.707 0.730 0 2.4 0.284 1.029 0.295 0.235 0.261 0.999 0.424 0.003 0.074 4.692 0.121 Protein kinase domain|Protein kinase-like domain . . 0.0923 0.0161 0.0997 0.0368 0.2649 0.0927 0.0454 0.0738 0.2163 0.0557 0.0142 0.0979 0.0530 0.2652 0.0932 0.0442 0.0878 het 1262.33 86 1 20972111 . G A 1262.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.307;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=57.05;MQ0=0;MQRankSum=-0.879;QD=14.68;ReadPosRankSum=0.628;VQSLOD=4.0622;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,46:86:99:1292,0,977 1 20977000 20977000 A C exonic PINK1 nonsynonymous SNV PINK1:NM_032409:exon8:c.A1562C:p.N521T 0.3 0.25 0.19 0.36 0.29 0.4 0.2974 0.2679 0.2290 0.3596 0.3665 0.2795 0.2907 0.3763 0.27 0.27 0.27 0.26 0.37 rs1043424 . . Likely benign|Likely benign Congenital_disorder_of_glycosylation|Parkinson_Disease\x2c_Recessive RCV000362537.1|RCV000408170.1 MedGen:Orphanet:SNOMED_CT|MedGen C0282577:ORPHA137:238049009|CN239372 . . . . . . 0.247 0.173 T 0.004 0.174 B 0.005 0.112 B 0.169 0.174 N 1 0.090 P 1.67 0.430 L -0.81 0.740 T -0.94 0.251 N 0.078 0.069 -1.033 0.195 T 0.000 0.000 T . . . 1.699 0.265 14.40 0.982 0.390 0.232 0.218 N c -0.672 -0.607 0.070 0.155 0.672 0.522 0 1.55 0.222 0.617 0.239 1.140 0.893 0.224 0.244 0.999 0.750 7.400 0.260 . . . 0.2930 0.2671 0.2323 0.1937 0.3526 0.3694 0.2780 0.2691 0.3742 0.2873 0.2556 0.2518 0.2152 0.3585 0.3655 0.2813 0.3180 het 1003.44 83 1 20977000 . A C 1003.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.770;DP=83;Dels=0.00;FS=4.981;HRun=0;HaplotypeScore=1.7882;MQ=59.19;MQ0=0;MQRankSum=-0.512;QD=12.09;ReadPosRankSum=-0.263;VQSLOD=5.9103;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,35:83:99:1033,0,1347 1 20987873 20987873 G C exonic DDOST nonsynonymous SNV DDOST:NM_005216:exon1:c.C22G:p.R8G 0.97 0.9 0.99 1. 1. 1. 0.9925 0.9175 0.9950 1 1 0.9996 0.9940 1 0.97 0.93 1. 0.96 0.72 rs537816 COSM3750850 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.449 N 1 0.090 P 0 0.065 N 0.72 0.510 T 0.01 0.069 N 0.205 0.258 -0.922 0.452 T 0.000 0.000 T . . . 2.284 0.336 18.06 0.909 0.195 0.080 0.138 N c -0.955 -0.793 1.0 0.983 0.442 0.072 0 3.4 0.379 -0.184 0.096 0.067 0.174 0.000 0.063 0.148 0.204 5.342 0.152 . ENSG00000244038.5 Muscle_Skeletal 0.9941 0.9186 0.9945 0.9998 0.9999 1 0.9997 0.9961 1.0000 0.9772 0.9206 0.9928 1 1 1 0.9998 0.9969 hom 715.64 21 1 20987873 . G C 715.64 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.08;VQSLOD=12.9095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:749,57,0 1 21024901 21024901 C T exonic KIF17 nonsynonymous SNV KIF17:NM_001122819:exon6:c.G1204A:p.V402M,KIF17:NM_001287212:exon6:c.G904A:p.V302M,KIF17:NM_020816:exon6:c.G1204A:p.V402M 0.6 0.45 0.72 0.65 0.69 0.57 0.6210 0.4918 0.6605 0.6299 0.6702 0.6411 0.6116 0.5700 0.59 0.5 0.64 0.54 0.64 rs522496 COSM1338584 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.794 0.050 T 0.006 0.126 B 0.008 0.127 B 0.914 0.085 N 1 0.090 P 0 0.065 N -0.64 0.721 T 0.15 0.053 N 0.035 0.015 -0.918 0.458 T 0.000 0.000 T . . . 0.859 0.176 9.821 0.703 0.090 0.011 0.041 N c -1.199 -1.129 1.000 0.489 0.626 0.397 0 2.87 0.324 0.127 0.155 0.090 0.195 0.017 0.192 0.064 0.173 7.644 0.273 . . . 0.6278 0.4868 0.6649 0.6877 0.6291 0.6781 0.6358 0.6298 0.5722 0.5999 0.4792 0.6487 0.6921 0.6170 0.6683 0.6447 0.6469 hom 2345.35 78 1 21024901 . C T 2345.35 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9940;MQ=58.78;MQ0=0;QD=30.07;VQSLOD=9.0026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2378,187,0 1 21036265 21036265 C T exonic KIF17 synonymous SNV KIF17:NM_001122819:exon4:c.G537A:p.V179V,KIF17:NM_001287212:exon4:c.G237A:p.V79V,KIF17:NM_020816:exon4:c.G537A:p.V179V 0.0054 0.0015 0.01 . 0.014 0.0041 0.0130 0.0037 0.0097 0.0002 0.0088 0.0186 0.0113 0.0067 0.014 0.0048 0.019 0.011 0.049 rs33996125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0127 0.0031 0.0105 0.0080 0.0001 0.0089 0.0196 0.0128 0.0063 0.0106 0.0018 0.0072 0.0033 0.0006 0.0109 0.0170 0.0112 het 1612.53 115 1 21036265 . C T 1612.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.411;DP=115;Dels=0.00;FS=7.521;HRun=0;HaplotypeScore=1.8245;MQ=60.00;MQ0=0;MQRankSum=-0.484;QD=14.02;ReadPosRankSum=1.200;VQSLOD=3.8246;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,58:115:99:1643,0,1588 1 21042033 21042033 T C exonic KIF17 nonsynonymous SNV KIF17:NM_001122819:exon2:c.A331G:p.R111G,KIF17:NM_001287212:exon2:c.A31G:p.R11G,KIF17:NM_020816:exon2:c.A331G:p.R111G 0.0066 0.0015 0.0058 . 0.025 0.002 0.0136 0.0021 0.0035 0 0.0403 0.0188 0.0122 0.0036 0.011 0.0023 0.016 0.011 0.0082 rs35835983 COSM3360618 1(kidney) . . . . . . . . . . . 0.002 0.721 D 0.944 0.585 P 0.596 0.550 P 0.069 0.216 U 0.989 0.409 D 2.465 0.718 M -0.94 0.753 T -5.27 0.841 D 0.254 0.310 -0.394 0.723 T 0.251 0.621 T . . . 3.942 0.531 23.5 0.994 0.613 0.772 0.376 D c 0.126 -0.039 1.000 0.747 0.696 0.567 0 2.27 0.274 0.718 0.254 0.085 0.192 0.631 0.278 0.751 0.322 6.448 0.210 Kinesin motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0134 0.0017 0.0050 0.0001 0 0.0429 0.0174 0.0150 0.0038 0.0146 0.0029 0.0036 0 0 0.0430 0.0167 0.0234 het 1921.13 137 1 21042033 . T C 1921.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.303;DP=137;Dels=0.00;FS=0.640;HRun=1;HaplotypeScore=3.8587;MQ=59.18;MQ0=0;MQRankSum=1.291;QD=14.02;ReadPosRankSum=-0.694;VQSLOD=5.3310;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,71:137:99:1951,0,1846 1 21042115 21042115 G A exonic KIF17 synonymous SNV KIF17:NM_001122819:exon2:c.C249T:p.Y83Y,KIF17:NM_020816:exon2:c.C249T:p.Y83Y 0.01 0.0023 0.013 . 0.036 0.0031 0.0219 0.0046 0.0063 0 0.0642 0.0299 0.0188 0.0062 0.019 0.0059 0.026 0.022 0.0082 rs34126615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0222 0.0042 0.0087 0.0159 0 0.0641 0.0287 0.0235 0.0067 0.0240 0.0047 0.0072 0.0132 0 0.0670 0.0281 0.0378 het 1362.85 115 1 21042115 . G A 1362.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.654;DP=115;Dels=0.00;FS=0.751;HRun=0;HaplotypeScore=4.4891;MQ=59.60;MQ0=0;MQRankSum=-0.985;QD=11.85;ReadPosRankSum=0.188;VQSLOD=4.7688;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,53:115:99:1393,0,1700 1 21044161 21044161 A G exonic KIF17 synonymous SNV KIF17:NM_001122819:exon1:c.T39C:p.R13R,KIF17:NM_020816:exon1:c.T39C:p.R13R 0.71 0.6 0.62 0.89 0.72 0.74 0.7131 0.6303 0.6859 0.9048 0.7202 0.6954 0.6725 0.7393 0.67 0.63 0.69 0.46 0.48 rs601329 COSM3746771 1(liver);16(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7065 0.6121 0.6785 0.5592 0.9020 0.7176 0.7000 0.6855 0.7362 0.7003 0.6220 0.6542 0.5333 0.8965 0.7287 0.7224 0.7195 hom 1131.07 34 1 21044161 . A G 1131.07 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.27;VQSLOD=13.5182;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:90.28:1164,90,0 1 21050958 21050958 C T exonic SH2D5 synonymous SNV SH2D5:NM_001103160:exon5:c.G309A:p.Q103Q,SH2D5:NM_001103161:exon6:c.G561A:p.Q187Q 0.88 0.98 0.76 0.98 0.77 0.83 0.8054 0.9604 0.7693 0.9932 0.7566 0.7627 0.7717 0.8332 0.82 0.96 0.76 0.95 0.66 rs592060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7991 0.9611 0.7719 0.7319 0.9925 0.7606 0.7608 0.7767 0.8309 0.8342 0.9606 0.7524 0.7318 0.9907 0.7519 0.7719 0.7943 hom 1155.91 38 1 21050958 . C T 1155.91 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.39;MQ0=0;QD=30.42;VQSLOD=9.2606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:96.27:1189,96,0 1 21071419 21071419 G A exonic HP1BP3 synonymous SNV HP1BP3:NM_016287:exon13:c.C1533T:p.P511P 0.013 0.0023 0.02 . 0.042 0.0072 0.0295 0.0067 0.0122 0 0.0659 0.0406 0.0220 0.0125 0.028 0.0098 0.037 0.022 0.033 rs17448349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0296 0.0059 0.0141 0.0250 0 0.0655 0.0398 0.0317 0.0128 0.0297 0.0064 0.0107 0.0199 0 0.0696 0.0375 0.0449 hom 2512.74 73 1 21071419 . G A 2512.74 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=59.37;MQ0=0;QD=34.42;VQSLOD=9.5603;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2546,199,0 1 21076274 21076274 G A exonic HP1BP3 synonymous SNV HP1BP3:NM_016287:exon10:c.C1083T:p.T361T 0.013 0.0023 0.02 . 0.042 0.0072 0.0296 0.0067 0.0124 0 0.0659 0.0407 0.0221 0.0126 0.028 0.0098 0.037 0.022 0.033 rs12729575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0297 0.0059 0.0148 0.0251 0 0.0655 0.0399 0.0317 0.0128 0.0298 0.0064 0.0119 0.0199 0 0.0693 0.0376 0.0449 hom 4242.56 136 1 21076274 . G A 4242.56 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.04;MQ0=0;QD=31.20;VQSLOD=9.6947;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4242,331,0 1 21167404 21167404 A G exonic EIF4G3 synonymous SNV EIF4G3:NM_003760:exon25:c.T3838C:p.L1280L,EIF4G3:NM_001198801:exon28:c.T3946C:p.L1316L,EIF4G3:NM_001198802:exon28:c.T3856C:p.L1286L 0.94 0.78 0.98 1. 1. 1. 0.9831 0.8149 0.9914 1 1 0.9997 0.9945 0.9999 0.94 0.81 1. 0.95 0.98 rs2230573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9863 0.8078 0.9896 1 1 1 0.9997 0.9907 0.9996 0.9425 0.7985 0.9881 1 1 1 0.9997 0.9888 hom 3371.50 103 1 21167404 . A G 3371.50 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.55;MQ0=0;QD=32.73;VQSLOD=9.2273;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3371,265,0 1 21560080 21560080 A G exonic ECE1 synonymous SNV ECE1:NM_001113347:exon12:c.T1605C:p.D535D,ECE1:NM_001113349:exon13:c.T1632C:p.D544D,ECE1:NM_001113348:exon14:c.T1593C:p.D531D,ECE1:NM_001397:exon14:c.T1641C:p.D547D 0.14 0.45 0.065 0.004 0.047 0.026 0.0646 0.3800 0.0314 0.0035 0.0655 0.0398 0.0420 0.0228 0.15 0.37 0.035 0.12 0.066 rs2228321 . . Benign not_specified RCV000242717.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0582 0.3887 0.0359 0.0389 0.0030 0.0656 0.0385 0.0542 0.0225 0.1382 0.3900 0.0406 0.0265 0.0037 0.0691 0.0354 0.0634 het 768.79 76 1 21560080 . A G 768.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.119;DP=76;Dels=0.00;FS=1.951;HRun=1;HaplotypeScore=2.6203;MQ=58.55;MQ0=1;MQRankSum=1.205;QD=10.12;ReadPosRankSum=0.487;VQSLOD=6.1127;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,33:76:99:799,0,1150 1 21573722 21573722 G A exonic ECE1 synonymous SNV ECE1:NM_001113347:exon7:c.C1119T:p.T373T,ECE1:NM_001113349:exon8:c.C1146T:p.T382T,ECE1:NM_001113348:exon9:c.C1107T:p.T369T,ECE1:NM_001397:exon9:c.C1155T:p.T385T 0.15 0.014 0.27 0.13 0.25 0.15 0.2204 0.0526 0.2071 0.1339 0.2591 0.2684 0.2522 0.1696 0.2 0.057 0.27 0.12 0.29 rs2229450 COSM4143321;COSM4143320;COSM4143319 1(thyroid) Benign not_specified RCV000244888.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2224 0.0474 0.2117 0.2167 0.1329 0.2616 0.2698 0.2231 0.1730 0.2004 0.0484 0.2327 0.1788 0.1330 0.2657 0.2765 0.2490 het 1103.05 86 1 21573722 . G A 1103.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.524;DP=86;Dels=0.00;FS=1.847;HRun=0;HaplotypeScore=1.9940;MQ=58.44;MQ0=0;MQRankSum=0.497;QD=12.83;ReadPosRankSum=0.273;VQSLOD=5.8703;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,45:86:99:1133,0,978 1 21573855 21573855 G A exonic ECE1 nonsynonymous SNV ECE1:NM_001113347:exon7:c.C986T:p.T329I,ECE1:NM_001113349:exon8:c.C1013T:p.T338I,ECE1:NM_001113348:exon9:c.C974T:p.T325I,ECE1:NM_001397:exon9:c.C1022T:p.T341I 0.029 0.0038 0.032 . 0.079 0.038 0.0555 0.0133 0.0187 0 0.0779 0.0774 0.0442 0.0398 0.055 0.015 0.075 0.033 0.074 rs1076669 . . Benign not_specified RCV000253112.1 MedGen CN169374 . . . . . . 0.168 0.302 T 0.04 0.198 B 0.063 0.256 B 0.142 0.182 N 1.000 0.189 N 1.81 0.478 L -0.81 0.740 T -2.03 0.496 N 0.118 0.130 -1.102 0.038 T 0.015 0.058 T . . . 2.616 0.376 20.3 0.994 0.649 0.201 0.207 N c -0.318 -0.189 0.999 0.387 0.707 0.730 0 4.56 0.555 2.288 0.429 0.953 0.551 0.989 0.365 0.939 0.413 7.444 0.262 Peptidase M13\x2c N-terminal domain . . 0.0547 0.0122 0.0244 0.0448 0.0002 0.0796 0.0783 0.0490 0.0398 0.0509 0.0128 0.0298 0.0397 0 0.0833 0.0718 0.0591 het 1358.57 116 1 21573855 . G A 1358.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.695;DP=116;Dels=0.00;FS=3.674;HRun=0;HaplotypeScore=5.8423;MQ=58.88;MQ0=0;MQRankSum=-0.232;QD=11.71;ReadPosRankSum=0.533;VQSLOD=5.0288;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,57:116:99:1389,0,1487 1 21795388 21795388 A G exonic NBPF3 nonsynonymous SNV NBPF3:NM_001256416:exon3:c.A341G:p.Y114C,NBPF3:NM_032264:exon3:c.A341G:p.Y114C,NBPF3:NM_001330381:exon7:c.A173G:p.Y58C 0.42 0.14 0.48 0.58 0.54 0.48 0.5182 0.2062 0.5494 0.5618 0.5360 0.5603 0.5606 0.4898 0.44 0.22 0.55 0.35 0.48 rs1827293 COSM425331;COSM3750874 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 1.0 0.899 D 0.998 0.875 D . . . 1 0.090 P 1.995 0.543 M 3.55 0.049 T -6.03 0.897 D 0.083 0.432 -0.903 0.477 T 0.000 0.000 T . . . 2.367 0.346 18.61 0.976 0.341 0.012 0.043 N c -0.490 -0.860 0.992 0.327 0.657 0.484 0 -2.16 0.066 0.172 0.164 0.360 0.273 0.001 0.137 0.000 0.016 1.989 0.032 . ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000176378.8|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000176378.8|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000176378.8|ENSG00000227001.2|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.5268 0.1962 0.5554 0.5769 0.5682 0.5430 0.5579 0.5603 0.4902 0.4614 0.2084 0.5431 0.5795 0.5749 0.5307 0.5657 0.5798 hom 4891.88 148 1 21795388 . A G 4891.88 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.84;MQ0=0;QD=33.05;VQSLOD=9.8031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4892,373,0 1 21889635 21889635 T C exonic ALPL synonymous SNV ALPL:NM_001177520:exon3:c.T99C:p.S33S,ALPL:NM_001127501:exon4:c.T165C:p.S55S,ALPL:NM_000478:exon5:c.T330C:p.S110S 0.93 0.85 0.95 0.98 0.94 0.96 0.9450 0.8664 0.9735 0.9878 0.9318 0.9456 0.9502 0.9542 0.92 0.87 0.95 0.91 0.96 rs1780316 COSM3746801 1(liver) Benign not_specified RCV000178778.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9473 0.8639 0.9678 0.9772 0.9867 0.9376 0.9436 0.9522 0.9537 0.9266 0.8662 0.9678 0.9735 0.9864 0.9367 0.9495 0.9277 hom 4367.57 143 1 21889635 . T C 4367.57 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.15;MQ0=0;QD=30.54;VQSLOD=9.1929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4367,355,0 1 21940555 21940555 C T exonic RAP1GAP nonsynonymous SNV RAP1GAP:NM_001145658:exon8:c.G511A:p.A171T,RAP1GAP:NM_002885:exon8:c.G319A:p.A107T,RAP1GAP:NM_001145657:exon9:c.G319A:p.A107T,RAP1GAP:NM_001330383:exon9:c.G319A:p.A107T,RAP1GAP:NM_001350524:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350525:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350527:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350528:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350526:exon11:c.G319A:p.A107T 0.39 0.36 0.28 0.42 0.44 0.43 0.4351 0.3814 0.2875 0.4109 0.4700 0.4708 0.4047 0.4247 0.43 0.37 0.46 0.4 0.46 rs2275363 . . . . . . . . . . . . . 0.508 0.088 T 0.001 0.067 B 0.001 0.063 B 0.247 0.156 N 1 0.090 P 1.79 0.469 L -3.27 0.936 D 0.42 0.034 N 0.037 0.137 -1.021 0.233 T 0.000 0.000 T . . . 2.331 0.341 18.37 0.967 0.304 0.030 0.078 N c -0.960 -0.921 0.992 0.328 0.706 0.609 0 -1.45 0.083 -1.826 0.018 -0.208 0.100 0.000 0.063 0.991 0.552 10.547 0.441 Rap GTPase activating protein domain . . 0.4087 0.3568 0.2748 0.4482 0.3950 0.4283 0.4520 0.3942 0.4092 0.4230 0.3641 0.2792 0.4533 0.3747 0.4493 0.4628 0.4388 hom 1445 44 1 21940555 . C T 1445 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=32.84;VQSLOD=9.0979;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1478,117,0 1 22149935 22149935 T C exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon97:c.A13053G:p.S4351S,HSPG2:NM_005529:exon97:c.A13050G:p.S4350S 0.78 0.68 0.75 0.82 0.83 0.85 0.8204 0.7297 0.7689 0.8206 0.8281 0.8389 0.8082 0.8304 0.79 0.72 0.83 0.73 0.44 rs897467 COSM3750884 1(thyroid);10(large_intestine) Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000302221.1|RCV000359351.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8081 0.7074 0.7491 0.8896 0.8181 0.8161 0.8247 0.8100 0.8263 0.7927 0.7179 0.7679 0.9139 0.8195 0.8199 0.8235 0.8289 hom 407.76 12 1 22149935 . T C 407.76 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=33.98;VQSLOD=8.7282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:441,36,0 1 22154387 22154387 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon91:c.C12561T:p.S4187S,HSPG2:NM_005529:exon91:c.C12558T:p.S4186S 0.029 0.0015 0.023 . 0.04 0.09 0.0699 0.0116 0.0672 0 0.0590 0.0813 0.0816 0.1036 0.035 0.0086 0.049 0.022 0.025 rs11552570 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000311383.1|RCV000392517.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0408 0.0083 0.0219 0.0406 0.0001 0.0217 0.0488 0.0423 0.0853 0.0316 0.0087 0.0191 0.0331 0 0.0209 0.0505 0.0458 het 261.63 24 1 22154387 . G A 261.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.430;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-1.025;QD=10.90;ReadPosRankSum=-1.259;VQSLOD=6.1354;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,10:24:99:292,0,346 1 22154845 22154845 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon89:c.T12315C:p.D4105D,HSPG2:NM_005529:exon89:c.T12312C:p.D4104D 0.26 0.12 0.22 0.16 0.32 0.51 0.2982 0.1360 0.1835 0.1607 0.3359 0.3143 0.2757 0.4733 0.25 0.15 0.31 0.23 0.27 rs2228347 COSM3746805 1(breast);1(liver) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000319755.1|RCV000353544.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2931 0.1324 0.1841 0.3414 0.1598 0.3269 0.3081 0.2821 0.4744 0.2493 0.1328 0.1969 0.3245 0.1421 0.3459 0.3015 0.3422 hom 3784.22 112 1 22154845 . A G 3784.22 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.021;DP=112;Dels=0.00;FS=4.890;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=-1.639;QD=33.79;ReadPosRankSum=-1.392;VQSLOD=4.0295;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,111:112:99:3749,269,0 1 22157545 22157545 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon85:c.C11604T:p.Y3868Y,HSPG2:NM_005529:exon85:c.C11601T:p.Y3867Y 0.029 0.0015 0.023 . 0.04 0.089 0.0693 0.0100 0.0547 0 0.0468 0.0795 0.0773 0.1024 0.034 0.0077 0.048 0.022 0.016 rs112494360 COSM1320466 1(ovary) Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000265105.1|RCV000359769.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0415 0.0069 0.0217 0.0401 0.0002 0.0212 0.0498 0.0409 0.0857 0.0310 0.0071 0.0203 0.0331 0 0.0206 0.0502 0.0459 het 139.03 13 1 22157545 . G A 139.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DP=13;Dels=0.00;FS=5.756;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.101;QD=10.69;ReadPosRankSum=-0.377;VQSLOD=4.7916;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:169,0,209 1 22158157 22158157 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon82:c.T11343C:p.N3781N,HSPG2:NM_005529:exon82:c.T11340C:p.N3780N 0.083 0.17 0.052 . 0.067 0.093 0.0827 0.1823 0.0468 0 0.0435 0.0811 0.0657 0.0977 0.11 0.17 0.077 0.098 0.016 rs2229488 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000296602.1|RCV000351453.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0719 0.1753 0.0419 0.0632 0.0001 0.0402 0.0794 0.0750 0.0915 0.0933 0.1740 0.0359 0.0464 0.0006 0.0378 0.0752 0.0686 het 241.27 18 1 22158157 . A G 241.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.148;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9950;MQ=56.56;MQ0=0;MQRankSum=0.795;QD=13.40;ReadPosRankSum=-0.088;VQSLOD=3.4432;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:271,0,239 1 22159774 22159774 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon80:c.C11085T:p.P3695P,HSPG2:NM_005529:exon80:c.C11082T:p.P3694P 0.086 0.17 0.052 . 0.068 0.11 0.0792 0.1712 0.0372 0 0.0587 0.0772 0.0710 0.1091 0.11 0.17 0.077 0.098 0.049 rs2229486 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000304022.1|RCV000393030.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0755 0.1717 0.0411 0.0571 0.0002 0.0588 0.0795 0.0768 0.1110 0.0958 0.1744 0.0346 0.0397 0.0006 0.0599 0.0745 0.0786 het 1037.54 88 1 22159774 . G A 1037.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.638;DP=88;Dels=0.00;FS=5.874;HRun=0;HaplotypeScore=0.9992;MQ=59.15;MQ0=0;MQRankSum=2.068;QD=11.79;ReadPosRankSum=1.344;VQSLOD=4.6027;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,38:88:99:1068,0,1129 1 22160001 22160001 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon79:c.G10940A:p.R3647H,HSPG2:NM_005529:exon79:c.G10937A:p.R3646H 0.0006 . . . 0.002 0.001 0.0035 0.0004 0.0009 0 0.0040 0.0051 0.0078 0.0021 0.0034 0.0005 0.0049 . . rs112062179 . . Likely benign|Uncertain significance|Uncertain significance not_specified|Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000180084.1|RCV000310089.1|RCV000364726.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.047 0.403 D 0.999 0.899 D 0.986 0.916 D 0.034 0.248 N 0.757 0.340 D 1.57 0.397 L -1.25 0.791 T -2.39 0.526 N 0.106 0.112 -0.101 0.801 T 0.460 0.791 T 0.149 0.831 D 3.695 0.501 23.3 0.998 0.927 0.583 0.303 D c 0.103 0.014 0.994 0.332 0.722 0.854 0 2.11 0.262 0.573 0.232 0.807 0.329 0.958 0.332 0.998 0.697 8.825 0.340 Concanavalin A-like lectin/glucanase domain|Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.0032 0.0005 0.0009 0.0027 0 0.0040 0.0049 0.0042 0.0018 0.0035 0.0006 0.0012 0 0 0.0052 0.0053 0.0041 het 933.64 72 1 22160001 . C T 933.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.471;DP=72;Dels=0.00;FS=6.518;HRun=0;HaplotypeScore=0.8667;MQ=59.16;MQ0=0;MQRankSum=0.812;QD=12.97;ReadPosRankSum=0.329;VQSLOD=4.7444;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,33:72:99:964,0,896 1 22160043 22160043 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon79:c.G10898A:p.R3633Q,HSPG2:NM_005529:exon79:c.G10895A:p.R3632Q 0.086 0.17 0.05 . 0.068 0.11 0.0795 0.1733 0.0372 0 0.0588 0.0774 0.0702 0.1091 0.11 0.17 0.077 0.098 0.049 rs2229493 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000276227.1|RCV000389238.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.399 0.110 T 0.003 0.237 B 0.015 0.195 B 0.965 0.082 N 1 0.090 P 0.93 0.236 L -0.15 0.652 T -1.51 0.439 N 0.132 0.152 -1.067 0.102 T 0.000 0.001 T . . . 0.200 0.113 4.684 0.880 0.171 0.191 0.203 N c -1.666 -1.655 0.967 0.289 0.722 0.854 0 -1.15 0.092 0.057 0.140 -0.966 0.023 0.005 0.169 0.016 0.126 8.850 0.342 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0756 0.1727 0.0411 0.0571 0.0001 0.0588 0.0795 0.0766 0.1111 0.0960 0.1748 0.0347 0.0397 0.0006 0.0599 0.0747 0.0777 het 1120.59 76 1 22160043 . C T 1120.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.074;DP=76;Dels=0.00;FS=0.918;HRun=1;HaplotypeScore=1.7675;MQ=58.65;MQ0=0;MQRankSum=0.260;QD=14.74;ReadPosRankSum=0.801;VQSLOD=5.8881;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,39:76:99:1151,0,882 1 22165901 22165901 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon73:c.T9855C:p.A3285A,HSPG2:NM_005529:exon73:c.T9852C:p.A3284A 0.35 0.55 0.24 0.16 0.27 0.41 0.2876 0.5338 0.1840 0.1621 0.2849 0.2616 0.2311 0.3795 0.35 0.53 0.26 0.37 0.22 rs2291826 COSM5427757 1(haematopoietic_and_lymphoid_tissue) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000336014.1|RCV000399444.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2765 0.5378 0.1852 0.2533 0.1611 0.2762 0.2601 0.2551 0.3821 0.3318 0.5427 0.1930 0.2318 0.1445 0.2833 0.2519 0.3119 het 1018.43 83 1 22165901 . A G 1018.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.149;DP=83;Dels=0.00;FS=4.183;HRun=1;HaplotypeScore=8.5766;MQ=59.22;MQ0=0;MQRankSum=0.733;QD=12.27;ReadPosRankSum=-1.025;VQSLOD=4.1919;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:41,42:83:99:1048,0,1183 1 22167605 22167605 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon71:c.G9505A:p.A3169T,HSPG2:NM_005529:exon71:c.G9502A:p.A3168T 0.084 0.16 0.05 . 0.068 0.11 0.1176 0.2266 0.0711 0 0.1124 0.1144 0.1 0.1355 0.1 0.16 0.075 0.098 . rs2228349 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000259415.1|RCV000316947.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.271 0.160 T 0.006 0.126 B 0.027 0.198 B 0.510 0.118 N 1 0.090 P 0.925 0.236 L -0.25 0.670 T -1.16 0.297 N 0.028 0.009 -1.066 0.104 T 0.001 0.002 T . . . 1.523 0.245 13.43 0.936 0.228 0.306 0.239 N c -1.024 -1.018 0.001 0.077 0.672 0.522 0 -0.426 0.116 0.959 0.286 -0.249 0.090 0.865 0.305 0.024 0.140 10.313 0.427 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0738 0.1605 0.0404 0.0566 0.0001 0.0578 0.0788 0.0742 0.1107 0.0929 0.1643 0.0346 0.0397 0.0006 0.0599 0.0744 0.0765 het 347.83 27 1 22167605 . C T 347.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DP=27;Dels=0.00;FS=9.864;HRun=0;HaplotypeScore=0.9916;MQ=58.44;MQ0=0;MQRankSum=-1.480;QD=12.88;ReadPosRankSum=1.237;VQSLOD=3.6353;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,13:27:99:378,0,360 1 22168801 22168801 T C exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon68:c.A8986G:p.S2996G,HSPG2:NM_005529:exon68:c.A8983G:p.S2995G 0.089 0.18 0.053 . 0.068 0.11 0.0812 0.1832 0.0383 0 0.0614 0.0781 0.0727 0.1110 0.11 0.18 0.077 0.12 0.025 rs2229491 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000313160.1|RCV000370135.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.031 0.252 N 1 0.090 P 0.93 0.236 L 0.94 0.437 T 1.26 0.010 N 0.036 0.016 -1.020 0.237 T 0.000 0.000 T . . . -1.372 0.020 0.004 0.270 0.013 0.011 0.041 N c -1.431 -1.406 0.000 0.044 0.632 0.406 0 1.0 0.189 -0.183 0.096 -0.441 0.057 0.000 0.063 0.000 0.016 1.546 0.024 Immunoglobulin subtype 2|Immunoglobulin-like domain ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0760 0.1809 0.0412 0.0568 0.0001 0.0585 0.0795 0.0773 0.1105 0.0975 0.1804 0.0346 0.0397 0.0006 0.0599 0.0745 0.0777 het 822.56 69 1 22168801 . T C 822.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.303;DP=69;Dels=0.00;FS=3.363;HRun=1;HaplotypeScore=1.7219;MQ=60.00;MQ0=0;MQRankSum=-0.367;QD=11.92;ReadPosRankSum=-0.150;VQSLOD=6.0626;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,32:69:99:853,0,935 1 22168845 22168845 A T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon68:c.T8942A:p.L2981H,HSPG2:NM_005529:exon68:c.T8939A:p.L2980H 0.034 0.0015 0.025 . 0.049 0.11 0.0560 0.0095 0.0258 0 0.0553 0.0606 0.0563 0.1160 0.04 0.0091 0.056 0.033 0.0082 rs2229489 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000262561.1|RCV000354940.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.446 0.126 N 1 0.090 N -0.895 0.014 N 1.03 0.405 T 2.3 0.003 N 0.052 0.034 -1.036 0.184 T 0.005 0.017 T . . . 0.574 0.149 7.972 0.263 0.013 0.180 0.199 N c -0.941 -0.733 0.001 0.085 0.632 0.406 0 4.95 0.648 3.368 0.518 0.088 0.194 0.998 0.411 0.772 0.328 10.134 0.417 Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000187942.7|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.0495 0.0082 0.0239 0.0421 0.0001 0.0439 0.0570 0.0479 0.1052 0.0378 0.0086 0.0191 0.0331 0 0.0470 0.0567 0.0562 het 604.76 50 1 22168845 . A T 604.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.486;DP=50;Dels=0.00;FS=12.025;HRun=0;HaplotypeScore=0.9665;MQ=59.25;MQ0=0;MQRankSum=1.175;QD=12.10;ReadPosRankSum=1.058;VQSLOD=3.7155;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:635,0,774 1 22174518 22174518 G T exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon60:c.C7809A:p.V2603V,HSPG2:NM_005529:exon60:c.C7806A:p.V2602V 0.035 0.0015 0.025 . 0.049 0.11 0.0511 0.0086 0.0225 0 0.0487 0.0558 0.0564 0.1060 0.041 0.0093 0.057 0.033 0.033 rs12737091 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000318918.1|RCV000375837.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0497 0.0082 0.0239 0.0421 0.0001 0.0439 0.0570 0.0495 0.1063 0.0375 0.0084 0.0191 0.0331 0 0.0467 0.0565 0.0542 het 662.05 56 1 22174518 . G T 662.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.783;DP=56;Dels=0.00;FS=3.480;HRun=1;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=0.320;QD=11.82;ReadPosRankSum=0.386;VQSLOD=6.6048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,26:56:99:692,0,861 1 22179244 22179244 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon52:c.G6676A:p.G2226S,HSPG2:NM_005529:exon52:c.G6673A:p.G2225S 0.035 0.0023 0.025 . 0.049 0.11 0.0509 0.0087 0.0222 0 0.0472 0.0558 0.0563 0.1050 0.041 0.0095 0.057 0.033 0.016 rs35669711 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000306325.1|RCV000398821.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.141 0.255 T 0.299 0.308 B 0.228 0.364 B 0.807 0.068 N 1 0.090 N 1.945 0.524 M -0.83 0.742 T -2.27 0.506 N 0.056 0.039 -0.861 0.512 T 0.072 0.293 T . . . 1.308 0.222 12.31 0.922 0.210 0.132 0.175 N c -0.638 -0.725 1.000 0.747 0.707 0.730 0 1.57 0.224 0.057 0.140 -1.623 0.009 0.000 0.063 0.000 0.016 8.045 0.295 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000187942.7|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.0498 0.0083 0.0240 0.0421 0.0001 0.0443 0.0571 0.0492 0.1064 0.0376 0.0086 0.0191 0.0331 0 0.0470 0.0564 0.0564 het 2949.57 195 1 22179244 . C T 2949.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.195;DP=195;DS;Dels=0.00;FS=0.714;HRun=0;HaplotypeScore=2.6493;MQ=59.53;MQ0=0;MQRankSum=0.666;QD=15.13;ReadPosRankSum=1.825;VQSLOD=5.2732;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,106:195:99:2980,0,2208 1 22179451 22179451 C T exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon51:c.G6555A:p.T2185T,HSPG2:NM_005529:exon51:c.G6552A:p.T2184T 0.035 0.0015 0.025 . 0.049 0.11 0.0512 0.0087 0.0223 0.0002 0.0475 0.0561 0.0567 0.1048 0.041 0.0095 0.057 0.033 0.0082 rs34443576 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000263025.1|RCV000318160.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0499 0.0084 0.0242 0.0421 0.0003 0.0442 0.0570 0.0495 0.1066 0.0377 0.0088 0.0191 0.0331 0 0.0464 0.0566 0.0562 het 779.32 77 1 22179451 . C T 779.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=0.202;QD=10.12;ReadPosRankSum=-0.377;VQSLOD=5.8927;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,32:77:99:809,0,1219 1 22180723 22180723 C T exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon50:c.G6405A:p.V2135V,HSPG2:NM_005529:exon50:c.G6402A:p.V2134V 0.035 0.0015 0.025 . 0.049 0.11 0.0895 0.0125 0.0502 0 0.1132 0.1021 0.0879 0.1323 0.039 0.0093 0.055 0.033 0.016 rs12742444 . . Benign|Likely benign|Likely benign not_specified|Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000289771.1|RCV000294008.1|RCV000330249.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet CN169374|C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0477 0.0072 0.0234 0.0419 0.0001 0.0422 0.0542 0.0474 0.1050 0.0376 0.0086 0.0191 0.0331 0 0.0464 0.0563 0.0560 het 129.55 11 1 22180723 . C T 129.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DP=11;Dels=0.00;FS=2.430;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.717;QD=11.78;ReadPosRankSum=1.532;VQSLOD=5.9205;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:160,0,117 1 22181895 22181895 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon47:c.G5902A:p.V1968I,HSPG2:NM_005529:exon47:c.G5899A:p.V1967I 0.035 0.0015 0.025 . 0.05 0.11 0.0536 0.0092 0.0238 0 0.0532 0.0580 0.0615 0.1125 0.041 0.0093 0.057 0.043 0.025 rs2229475 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000339647.1|RCV000375538.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 0.191 0.210 T 0.998 0.715 D 0.995 0.818 D 0.003 0.359 N 0.994 0.421 D 1.5 0.380 L -0.47 0.701 T -0.58 0.174 N 0.153 0.182 -0.638 0.632 T 0.090 0.345 T . . . 4.547 0.609 24.3 0.997 0.785 0.814 0.405 D c 0.411 0.383 1.000 0.747 0.672 0.522 0 5.12 0.693 1.934 0.396 0.852 0.362 0.992 0.373 0.958 0.437 16.043 0.804 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000187942.7|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.0492 0.0080 0.0238 0.0418 0.0001 0.0435 0.0563 0.0496 0.1058 0.0375 0.0085 0.0191 0.0298 0 0.0464 0.0564 0.0562 het 289.98 35 1 22181895 . C T 289.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.097;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.577;QD=8.29;ReadPosRankSum=0.122;VQSLOD=6.0116;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,14:35:99:320,0,570 1 22191454 22191454 G A exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon36:c.C4511T:p.A1504V,HSPG2:NM_005529:exon36:c.C4508T:p.A1503V 0.69 0.59 0.78 0.89 0.73 0.53 0.7463 0.6525 0.8269 0.9042 0.7712 0.7581 0.7778 0.6023 0.7 0.62 0.74 0.71 0.5 rs897471 COSM3750893 1(pancreas);1(thyroid);1(upper_aerodigestive_tract);6(large_intestine) Benign|Benign|Benign Schwartz_Jampel_syndrome_type_1|not_specified|Dyssegmental_Dysplasia RCV000274418.1|RCV000299057.1|RCV000371265.1 MedGen:OMIM:Orphanet|MedGen|MedGen:Orphanet C0036391:255800:ORPHA800|CN169374|C1857100:ORPHA1865 . . . . . . 0.056 0.381 T 1.0 0.899 D 0.997 0.850 D 0.002 0.381 N 0.999 0.214 P 2.045 0.562 M 1.27 0.361 T -3.11 0.636 D 0.088 0.084 -1.100 0.041 T 0.000 0.000 T . . . 3.682 0.500 23.3 0.999 0.972 0.459 0.274 N c -0.002 -0.161 1.000 0.500 0.672 0.522 0 4.37 0.517 4.315 0.587 0.998 0.613 0.998 0.411 0.536 0.277 12.819 0.569 Laminin IV . . 0.7312 0.6118 0.8066 0.7424 0.8933 0.7495 0.7348 0.7578 0.5761 0.7093 0.6147 0.7900 0.7384 0.9 0.7334 0.7329 0.7074 het 103.60 16 1 22191454 . G A 103.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.674;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9330;MQ=57.05;MQ0=0;MQRankSum=-0.061;QD=6.48;ReadPosRankSum=1.286;VQSLOD=2.7454;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:16:99:134,0,291 1 22206649 22206649 T C exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon17:c.A2297G:p.N766S,HSPG2:NM_005529:exon17:c.A2294G:p.N765S 0.93 0.75 0.98 1. 1. 1. 0.9811 0.7916 0.9923 1 1 0.9996 0.9868 0.9997 0.94 0.81 1. 0.88 0.99 rs989994 . . Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000317586.1|RCV000372262.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.246 0.173 T 0.003 0.102 B 0.016 0.166 B 0.016 0.281 N 0.002 0.449 P 1.425 0.359 L 0.11 0.612 T -1.88 0.439 N 0.082 0.075 -0.967 0.378 T 0.000 0.000 T . . . 2.117 0.315 16.97 0.993 0.594 0.821 0.411 D c -0.124 0.050 1.000 0.747 0.707 0.730 0 5.38 0.772 0.800 0.265 0.964 0.580 1.000 0.715 1.000 0.888 13.348 0.599 Laminin EGF domain . . 0.9849 0.7857 0.9903 1 1 1 0.9996 0.9916 0.9995 0.9404 0.7918 0.9857 1 0.9988 1 0.9994 0.9939 hom 2604.58 83 1 22206649 . T C 2604.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.357;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9789;MQ=59.42;MQ0=0;MQRankSum=1.690;QD=31.38;ReadPosRankSum=1.315;VQSLOD=7.8585;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,82:83:99:2638,181,0 1 22206942 22206942 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon16:c.C2112T:p.A704A,HSPG2:NM_005529:exon16:c.C2109T:p.A703A 0.93 0.75 0.98 1. 1. 1. 0.9812 0.7924 0.9923 1 1 0.9996 0.9867 0.9998 0.94 0.81 1. 0.89 0.99 rs1874793 COSM4143367 1(thyroid) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000282418.1|RCV000318734.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9850 0.7860 0.9903 1 1 1 0.9996 0.9916 0.9996 0.9405 0.7921 0.9857 1 0.9981 1 0.9994 0.9939 hom 1683.29 54 1 22206942 . G A 1683.29 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.14;MQ0=0;QD=31.17;VQSLOD=9.4576;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:54:99:1716,132,0 1 22207235 22207235 T C exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon15:c.A1915G:p.M639V,HSPG2:NM_005529:exon15:c.A1912G:p.M638V 0.97 0.9 0.99 1. 1. 1. 0.9931 0.9216 0.9971 1 1 0.9997 0.9985 1 0.98 0.93 1. 0.94 0.79 rs1874792 . . Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000260399.1|RCV000296869.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.062 0.221 N 1.000 0.198 P -2.085 0.002 N 1.34 0.348 T 1.09 0.013 N 0.016 0.003 -0.979 0.352 T 0.000 0.000 T . . . -1.579 0.015 0.002 0.341 0.021 0.174 0.196 N c -1.163 -0.925 0.962 0.286 0.672 0.522 0 3.56 0.397 1.148 0.310 -0.425 0.059 0.757 0.290 0.008 0.104 7.569 0.269 Laminin IV . . 0.9946 0.9186 0.9965 1 1 1 0.9997 0.9970 0.9999 0.9785 0.9254 0.9916 1 0.9994 1 0.9996 0.9990 hom 454.51 15 1 22207235 . T C 454.51 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.30;VQSLOD=13.9582;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:488,39,0 1 22214127 22214127 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon8:c.T744C:p.L248L,HSPG2:NM_005529:exon8:c.T744C:p.L248L 0.54 0.71 0.58 0.65 0.32 0.38 0.4175 0.6406 0.5977 0.6264 0.3508 0.3354 0.4011 0.4014 0.43 0.63 0.32 0.5 0.34 rs2229478 COSM3750895;COSM3750894 3(large_intestine) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000267416.1|RCV000317902.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 0.0 0.912 D 0.001 0.067 B 0.001 0.040 B 0.682 0.102 N 1.000 0.090 P . . . 0.45 0.565 T 0.18 0.050 N . . -0.946 0.417 T 0.000 0.000 T . . . -0.843 0.038 0.034 0.896 0.184 0.061 0.120 N c -1.402 -1.444 0.998 0.365 0.672 0.522 0 0.117 0.139 -1.838 0.018 -0.948 0.024 0.000 0.063 0.000 0.016 0.623 0.007 . . . 0.4167 0.6396 0.5795 0.2545 0.6254 0.3575 0.3335 0.4032 0.4041 0.4500 0.6428 0.5373 0.2285 0.6445 0.3805 0.3370 0.3857 het 2030.21 163 1 22214127 . A G 2030.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.557;DP=163;Dels=0.00;FS=1.251;HRun=0;HaplotypeScore=1.6281;MQ=59.32;MQ0=0;MQRankSum=2.023;QD=12.46;ReadPosRankSum=0.616;VQSLOD=5.5305;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,81:163:99:2060,0,2196 1 22216604 22216604 C G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon6:c.G444C:p.L148L,HSPG2:NM_005529:exon6:c.G444C:p.L148L 0.44 0.22 0.42 0.35 0.68 0.62 0.5770 0.2937 0.3976 0.3732 0.6487 0.6657 0.5960 0.6000 0.55 0.3 0.68 0.46 0.65 rs2254357 COSM3997260;COSM3997259 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000295447.1|RCV000352676.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.243 0.175 T 0.946 0.514 P 0.509 0.461 P . . . 0.000 0.810 P . . . 0.56 0.546 T 0.76 0.020 N . . -1.050 0.143 T 0.000 0.000 T . . . 1.275 0.218 12.14 0.917 0.204 0.915 0.533 D c 0.227 0.286 1.000 0.747 0.672 0.522 0 4.5 0.542 1.139 0.309 0.935 0.490 1.000 0.715 0.992 0.562 14.050 0.641 . . . 0.5796 0.2904 0.4157 0.7461 0.3750 0.6427 0.6673 0.5947 0.5970 0.5299 0.2865 0.4606 0.7733 0.3559 0.6195 0.6626 0.6148 het 2391.28 243 1 22216604 . C G 2391.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.753;DP=243;DS;Dels=0.00;FS=5.372;HRun=0;HaplotypeScore=8.9823;MQ=59.23;MQ0=0;MQRankSum=-0.010;QD=9.84;ReadPosRankSum=2.176;VQSLOD=2.7482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:146,97:243:99:2421,0,4144 1 22217108 22217108 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon4:c.C324T:p.F108F,HSPG2:NM_005529:exon4:c.C324T:p.F108F 0.95 0.81 0.98 1. 1. 1. 0.9861 0.8475 0.9944 1 1 0.9996 0.9879 0.9998 0.95 0.87 1. 0.91 1. rs2501260 . . Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000289547.1|RCV000406389.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9891 0.8440 0.9936 1 1 1 0.9997 0.9933 0.9997 0.9559 0.8462 0.9881 1 1 1 0.9996 0.9939 hom 6782.90 224 1 22217108 . G A 6782.90 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.5304;MQ=58.87;MQ0=0;QD=30.28;VQSLOD=5.8944;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:224:99:6782,539,0 1 22307538 22307538 C T exonic CELA3B nonsynonymous SNV CELA3B:NM_007352:exon4:c.C235T:p.R79W 0.89 0.84 0.96 0.76 0.99 0.95 0.9555 0.8584 0.9437 0.7490 0.9991 0.9922 0.9659 0.9672 0.95 0.86 0.99 0.84 0.98 rs7528405 COSM3997262;COSM3997263 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.148 0.386 T 0.962 0.536 D 0.598 0.488 P 0.718 0.100 N 1 0.090 P 1.5 0.380 L -2.49 0.892 D -4.64 0.836 D 0.156 0.503 -0.923 0.452 T 0.000 0.000 T . . . 1.946 0.295 15.87 0.995 0.687 0.107 0.160 N c -0.383 -0.621 0.000 0.012 0.526 0.212 0 -0.773 0.104 -0.489 0.065 0.022 0.145 0.000 0.063 0.011 0.114 1.847 0.029 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9574 0.8590 0.9470 0.9736 0.7494 0.9990 0.9933 0.9712 0.9662 0.9435 0.8638 0.9547 0.9669 0.7531 0.9983 0.9939 0.9826 hom 3947.76 120 1 22307538 . C T 3947.76 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=56.30;MQ0=0;QD=32.90;VQSLOD=8.0145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3948,304,0 1 22310725 22310725 G C exonic CELA3B synonymous SNV CELA3B:NM_007352:exon6:c.G543C:p.P181P . . . . . . 0.9105 0.7430 0.9219 0.7487 0.9311 0.9437 0.9084 0.9502 0.88 0.76 0.94 0.79 0.93 rs3820287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9146 0.7416 0.9219 0.9590 0.7495 0.9307 0.9446 0.9236 0.9490 0.8761 0.7525 0.9356 0.9570 0.7540 0.9321 0.9388 0.9427 hom 4126.63 123 1 22310725 . G C 4126.63 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7870;MQ=54.49;MQ0=0;QD=33.55;VQSLOD=3.8803;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4126,343,0 1 22313161 22313161 T C exonic CELA3B synonymous SNV CELA3B:NM_007352:exon7:c.T780C:p.I260I 0.88 0.79 0.95 0.76 0.99 0.96 0.9510 0.8078 0.9393 0.7505 0.9991 0.9915 0.9570 0.9710 0.93 0.81 0.99 0.76 1. rs1803530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9537 0.8067 0.9420 0.9744 0.7528 0.9990 0.9925 0.9671 0.9695 0.9273 0.8077 0.9545 0.9669 0.7547 0.9983 0.9929 0.9794 hom 2492.37 85 1 22313161 . T C 2492.37 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=43.80;MQ0=1;QD=29.32;VQSLOD=2.5593;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2525,217,0 1 22336277 22336277 C G exonic CELA3A nonsynonymous SNV CELA3A:NM_005747:exon7:c.C722G:p.A241G 0.9 0.9 0.9 0.74 0.98 0.95 0.9449 0.9252 0.8616 0.7543 0.9779 0.9784 0.9515 0.9657 0.96 0.92 0.98 0.85 0.98 rs3820285 COSM4143379 1(thyroid) . . . . . . . . . . . 0.47 0.085 T 0.0 0.026 B 0.004 0.093 B . . . 1 0.090 P -1.87 0.003 N 2.27 0.174 T 0.57 0.087 N 0.061 0.065 -0.994 0.316 T 0.000 0.000 T . . . -0.758 0.042 0.053 0.579 0.057 0.042 0.096 N c -1.318 -1.312 0.000 0.012 0.570 0.322 0 1.71 0.233 -0.043 0.119 -0.545 0.048 0.000 0.063 0.001 0.043 11.399 0.489 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9415 0.9244 0.8665 0.9685 0.7542 0.9781 0.9782 0.9527 0.9651 0.9507 0.9272 0.8864 0.96 0.7566 0.9797 0.9804 0.9702 hom 2806.68 89 1 22336277 . C G 2806.68 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.575;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7792;MQ=56.96;MQ0=0;MQRankSum=1.653;QD=31.54;ReadPosRankSum=1.142;VQSLOD=5.0463;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,88:89:99:2840,199,0 1 22835677 22835677 A G exonic ZBTB40 nonsynonymous SNV ZBTB40:NM_001330398:exon7:c.A1448G:p.Y483C,ZBTB40:NM_014870:exon9:c.A1784G:p.Y595C,ZBTB40:NM_001083621:exon10:c.A1784G:p.Y595C 0.82 0.94 0.84 0.89 0.72 0.69 0.7648 0.9102 0.8960 0.8982 0.7065 0.7209 0.7302 0.7137 0.78 0.9 0.72 0.88 0.75 rs209729 COSM3746832 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . 0.421 0.105 T 0.0 0.026 B 0.0 0.013 B 0.668 0.104 N 1 0.090 P -0.345 0.033 N 1.03 0.405 T 0.9 0.022 N 0.033 0.019 -1.050 0.144 T 0.000 0.000 T . . . 0.229 0.116 4.977 0.275 0.014 0.035 0.086 N c -1.416 -1.358 0.001 0.078 0.707 0.730 0 0.925 0.185 0.226 0.174 -0.827 0.030 0.006 0.172 0.000 0.016 2.866 0.052 . ENSG00000184677.12 Whole_Blood 0.7662 0.9142 0.8848 0.7503 0.8973 0.7111 0.7171 0.7465 0.7166 0.7793 0.9106 0.8816 0.7550 0.8813 0.7093 0.7054 0.7418 hom 5609.42 170 1 22835677 . A G 5609.42 Mask AC=2;AF=1.00;AN=2;DP=170;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5313;MQ=59.04;MQ0=0;QD=33.00;VQSLOD=7.9411;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,169:170:99:5609,433,0 1 22846709 22846709 G A exonic ZBTB40 nonsynonymous SNV ZBTB40:NM_001330398:exon12:c.G2653A:p.V885M,ZBTB40:NM_014870:exon14:c.G2989A:p.V997M,ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M 1. 1. 1. 1. 0.99 1. 0.9970 0.9992 0.9979 1 0.9976 0.9955 0.9967 0.9992 1. 1. 0.99 1. 0.99 rs209720 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.040 B 0.000 0.629 N 1.000 0.189 P -0.465 0.027 N 3.53 0.049 T 1.03 0.015 N 0.085 0.080 -0.944 0.420 T 0.000 0.000 T . . . 1.673 0.262 14.26 0.844 0.147 0.389 0.259 N c -0.502 -0.249 0.383 0.200 0.707 0.730 0 5.79 0.917 1.868 0.389 -0.113 0.115 1.000 0.715 0.998 0.697 8.282 0.309 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9969 0.9992 0.9973 0.9996 1 0.9985 0.9949 0.9960 0.9993 0.9972 0.9991 0.9988 0.9967 1 0.9994 0.9951 0.9980 hom 5531.98 162 1 22846709 . G A 5531.98 Mask AC=2;AF=1.00;AN=2;DP=162;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8127;MQ=59.25;MQ0=0;QD=34.15;VQSLOD=8.4821;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5531,454,0 1 22852715 22852715 G C exonic ZBTB40 synonymous SNV ZBTB40:NM_001330398:exon16:c.G3210C:p.P1070P,ZBTB40:NM_014870:exon18:c.G3546C:p.P1182P,ZBTB40:NM_001083621:exon19:c.G3546C:p.P1182P 0.32 0.12 0.22 0.47 0.39 0.42 0.3422 0.1588 0.1585 0.4547 0.3439 0.3677 0.3532 0.4232 0.3 0.16 0.37 0.27 0.38 rs881646 COSM3746849 1(liver);1(large_intestine);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3392 0.1518 0.1762 0.3631 0.4569 0.3349 0.3727 0.3245 0.4210 0.2967 0.1588 0.2363 0.3510 0.4702 0.3381 0.3470 0.3592 het 1147.88 91 1 22852715 . G C 1147.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.111;DP=91;Dels=0.00;FS=7.979;HRun=2;HaplotypeScore=3.2388;MQ=59.08;MQ0=0;MQRankSum=2.187;QD=12.61;ReadPosRankSum=0.413;VQSLOD=3.6995;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,41:91:99:1178,0,1300 1 22852880 22852880 G C exonic ZBTB40 nonsynonymous SNV ZBTB40:NM_001330398:exon16:c.G3375C:p.E1125D,ZBTB40:NM_014870:exon18:c.G3711C:p.E1237D,ZBTB40:NM_001083621:exon19:c.G3711C:p.E1237D 0.026 0.0015 0.019 . 0.037 0.082 0.0362 0.0043 0.0162 0.0003 0.0467 0.0398 0.0396 0.0704 0.026 0.007 0.035 0.022 0.074 rs45502998 . . . . . . . . . . . . . 0.097 0.309 T 0.884 0.466 P 0.507 0.460 P 0.000 0.559 D 0.747 0.339 D 1.645 0.421 L 2.97 0.095 T -0.3 0.134 N 0.076 0.067 -1.031 0.201 T 0.007 0.023 T . . . 2.379 0.347 18.68 0.992 0.556 0.930 0.569 D c 0.124 0.182 0.052 0.149 0.707 0.730 0 3.74 0.419 1.701 0.372 1.048 0.713 1.000 0.715 1.000 0.888 7.607 0.271 . . . 0.0357 0.0037 0.0155 0.0420 0.0001 0.0498 0.0381 0.0414 0.0719 0.0334 0.0063 0.0107 0.0397 0.0006 0.0461 0.0502 0.0440 het 1769.29 167 1 22852880 . G C 1769.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.925;DP=167;Dels=0.00;FS=0.624;HRun=0;HaplotypeScore=4.1049;MQ=59.25;MQ0=0;MQRankSum=0.350;QD=10.59;ReadPosRankSum=0.477;VQSLOD=5.4406;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,76:167:99:1799,0,2540 1 22919904 22919904 C T exonic EPHA8 synonymous SNV EPHA8:NM_020526:exon6:c.C1401T:p.N467N 0.34 0.39 0.35 0.17 0.27 0.49 0.3741 0.4274 0.4974 0.2416 0.3275 0.3243 0.3664 0.5017 0.29 0.38 0.24 0.33 0.21 rs209696 COSM5019394 1(breast);8(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3025 0.3761 0.4058 0.2770 0.1955 0.2208 0.2476 0.2915 0.4755 0.2786 0.3716 0.3945 0.2781 0.1920 0.2352 0.2390 0.2571 het 160.63 12 1 22919904 . C T 160.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.588;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9950;MQ=58.43;MQ0=0;MQRankSum=0.779;QD=13.39;ReadPosRankSum=-0.259;VQSLOD=6.0895;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:191,0,154 1 23219493 23219493 T C exonic EPHB2 synonymous SNV EPHB2:NM_001309192:exon7:c.T1545C:p.G515G,EPHB2:NM_001309193:exon7:c.T1545C:p.G515G,EPHB2:NM_004442:exon7:c.T1545C:p.G515G,EPHB2:NM_017449:exon7:c.T1545C:p.G515G 1. 1. 1. 1. 0.99 1. 0.9963 0.9986 0.9984 1 0.9973 0.9943 0.9978 0.9993 0.99 1. 0.99 1. 1. rs309472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9988 0.9977 0.9976 1 0.9985 0.9940 0.9967 0.9995 0.9968 0.9994 0.9952 0.9934 1 0.9997 0.9943 0.9969 hom 3368.67 111 1 23219493 . T C 3368.67 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.575;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5568;MQ=59.46;MQ0=0;MQRankSum=0.094;QD=30.35;ReadPosRankSum=0.850;VQSLOD=8.9784;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,110:111:99:3346,259,0 1 23418153 23418153 C T exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.G2602A:p.D868N,LUZP1:NM_033631:exon4:c.G2602A:p.D868N 0.75 0.84 0.62 0.81 0.83 0.56 0.7686 0.8271 0.4946 0.8123 0.8809 0.8373 0.8073 0.5760 0.83 0.82 0.83 0.78 0.84 rs10799790 COSM5002336 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.292 N 1 0.090 P -2.34 0.001 N 2.87 0.128 T 0.95 0.017 N 0.005 0.001 -1.004 0.288 T 0.000 0.000 T . . . 0.983 0.188 10.56 0.825 0.137 0.002 0.014 N c -1.299 -1.075 0.996 0.343 0.707 0.730 0 2.74 0.312 1.187 0.315 0.117 0.209 0.958 0.332 0.989 0.536 6.231 0.198 . ENSG00000215906.4 Testis 0.7612 0.8281 0.5228 0.8027 0.8111 0.8840 0.8367 0.7749 0.5824 0.8353 0.8253 0.5719 0.8311 0.8161 0.8912 0.8452 0.8282 hom 5300.49 175 1 23418153 . C T 5300.49 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3403;MQ=59.18;MQ0=0;QD=30.29;VQSLOD=7.7097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5300,421,0 1 23418803 23418803 G C exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.C1952G:p.S651C,LUZP1:NM_033631:exon4:c.C1952G:p.S651C 0.0034 0.0008 0.0029 . 0.014 . 0.0092 0.0026 0.0025 0 0.0221 0.0133 0.0154 0.0010 0.01 0.0034 0.014 0.022 . rs35645814 COSM3746865 1(liver) . . . . . . . . . . . 0.006 0.614 D 0.003 0.102 B 0.003 0.080 B 0.287 0.148 N 1.000 0.090 N 2.24 0.636 M 2.52 0.170 T -1.91 0.444 N 0.061 0.246 -1.015 0.255 T 0.025 0.105 T . . . 2.057 0.308 16.58 0.968 0.305 0.302 0.238 N c -0.606 -0.593 0.998 0.364 0.707 0.730 0 1.62 0.227 1.106 0.305 1.045 0.669 0.049 0.212 1.000 0.888 3.666 0.077 . . . 0.0092 0.0021 0.0030 0.0074 0 0.0216 0.0134 0.0111 0.0008 0.0103 0.0022 0.0012 0.0066 0 0.0252 0.0133 0.0092 het 4616.87 250 1 23418803 . G C 4616.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.604;DP=250;DS;Dels=0.00;FS=2.835;HRun=0;HaplotypeScore=3.5919;MQ=59.76;MQ0=0;MQRankSum=-0.767;QD=18.47;ReadPosRankSum=0.879;VQSLOD=4.3852;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,135:250:99:3969,0,3125 1 23419261 23419261 G A exonic LUZP1 synonymous SNV LUZP1:NM_001142546:exon3:c.C1494T:p.S498S,LUZP1:NM_033631:exon4:c.C1494T:p.S498S 0.69 0.64 0.59 0.81 0.83 0.56 0.7529 0.6559 0.4889 0.8124 0.8811 0.8364 0.7996 0.5764 0.77 0.66 0.83 0.69 0.81 rs477717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7484 0.6496 0.5150 0.7987 0.8110 0.8840 0.8358 0.7671 0.5823 0.7853 0.6531 0.5526 0.8278 0.8167 0.8912 0.8437 0.8219 hom 7673.38 250 1 23419261 . G A 7673.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8300;MQ=59.33;MQ0=0;MQRankSum=-0.182;QD=30.69;ReadPosRankSum=-0.880;VQSLOD=9.4121;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,247:250:99:7672,635,0 1 23419374 23419374 G T exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.C1381A:p.Q461K,LUZP1:NM_033631:exon4:c.C1381A:p.Q461K 0.68 0.59 0.59 0.81 0.83 0.56 0.7490 0.6118 0.4871 0.8119 0.8811 0.8364 0.7996 0.5760 0.76 0.62 0.83 0.66 0.77 rs3765407 . . . . . . . . . . . . . 0.065 0.363 T 0.403 0.384 B 0.082 0.303 B 0.076 0.212 N 1.000 0.196 P 2.28 0.651 M 2.7 0.147 T -0.58 0.245 N 0.072 0.319 -1.097 0.045 T 0.000 0.000 T . . . 1.206 0.211 11.78 0.961 0.280 0.961 0.672 D c 0.150 0.235 1.000 0.489 0.707 0.730 0 3.97 0.451 2.989 0.488 1.048 0.713 0.657 0.280 0.971 0.463 13.124 0.586 . ENSG00000215906.4 Testis 0.7452 0.6056 0.5129 0.7982 0.8113 0.8838 0.8358 0.7656 0.5821 0.7712 0.6063 0.5525 0.8333 0.8157 0.8910 0.8428 0.8124 hom 7874.68 227 1 23419374 . G T 7874.68 Mask AC=2;AF=1.00;AN=2;DP=227;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5345;MQ=58.81;MQ0=0;QD=34.69;VQSLOD=9.4876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:7874,629,0 1 23419383 23419383 C T exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.G1372A:p.G458S,LUZP1:NM_033631:exon4:c.G1372A:p.G458S 0.69 0.64 0.59 0.81 0.83 0.56 0.7530 0.6560 0.4886 0.8125 0.8808 0.8365 0.7996 0.5767 0.77 0.66 0.83 0.69 0.75 rs477830 . . . . . . . . . . . . . 0.183 0.231 T 0.038 0.196 B 0.012 0.149 B 0.000 0.491 D 1 0.090 P 2.485 0.726 M 2.59 0.158 T -0.06 0.079 N 0.104 0.211 -1.062 0.113 T 0.000 0.000 T . . . 1.118 0.202 11.31 0.995 0.695 0.178 0.198 N c -0.641 -0.621 1.000 0.500 0.707 0.730 0 3.97 0.451 1.564 0.358 0.935 0.490 0.019 0.194 0.665 0.302 12.789 0.567 . ENSG00000215906.4 Testis 0.7483 0.6493 0.5148 0.7983 0.8113 0.8839 0.8359 0.7663 0.5823 0.7844 0.6525 0.5514 0.8322 0.8164 0.8909 0.8427 0.8200 hom 8297.99 241 1 23419383 . C T 8297.99 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8215;MQ=58.88;MQ0=0;QD=34.43;VQSLOD=8.5651;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,240:241:99:8297,659,0 1 23419855 23419855 T C exonic LUZP1 synonymous SNV LUZP1:NM_001142546:exon3:c.A900G:p.T300T,LUZP1:NM_033631:exon4:c.A900G:p.T300T 0.75 0.84 0.62 0.81 0.83 0.56 0.7691 0.8299 0.4961 0.8113 0.8809 0.8376 0.8073 0.5766 0.83 0.82 0.83 0.79 0.84 rs1983965 COSM5420058 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7619 0.8311 0.5239 0.8030 0.8111 0.8839 0.8366 0.7757 0.5824 0.8359 0.8277 0.5730 0.8311 0.8177 0.8914 0.8450 0.8289 hom 6629.53 216 1 23419855 . T C 6629.53 Mask AC=2;AF=1.00;AN=2;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8078;MQ=59.66;MQ0=0;QD=30.69;VQSLOD=7.5059;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6628,530,0 1 23688933 23688933 A G exonic ZNF436 synonymous SNV ZNF436:NM_030634:exon3:c.T942C:p.N314N,ZNF436:NM_001077195:exon4:c.T942C:p.N314N 0.51 0.19 0.65 0.63 0.73 0.5 0.6487 0.2577 0.6241 0.6406 0.7299 0.7337 0.6586 0.5402 0.58 0.28 0.73 0.45 0.73 rs2849028 COSM5420061 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6596 0.2513 0.6384 0.7575 0.6325 0.7354 0.7327 0.6892 0.5443 0.5957 0.2594 0.6427 0.7583 0.6455 0.7497 0.7373 0.6953 hom 6661.30 196 1 23688933 . A G 6661.30 Mask AC=2;AF=1.00;AN=2;DP=196;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1365;MQ=59.22;MQ0=0;QD=33.99;VQSLOD=9.5428;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,196:196:99:6661,527,0 1 23763449 23763449 G A exonic ASAP3 synonymous SNV ASAP3:NM_001143778:exon14:c.C1404T:p.R468R,ASAP3:NM_017707:exon15:c.C1431T:p.R477R 0.05 0.012 0.06 . 0.1 0.089 0.0884 0.0256 0.0458 0.0002 0.1289 0.1141 0.0792 0.0848 0.074 0.027 0.098 0.033 0.16 rs115515935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0832 0.0229 0.0462 0.1184 0.0001 0.1148 0.1062 0.0913 0.0840 0.0745 0.0194 0.0513 0.0933 0.0006 0.1140 0.1042 0.1049 het 138.88 21 1 23763449 . G A 138.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.571;DP=21;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.8941;MQ=59.11;MQ0=0;MQRankSum=0.253;QD=6.61;ReadPosRankSum=-0.471;VQSLOD=5.2603;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,8:21:99:169,0,379 1 23847464 23847464 C A exonic E2F2 nonsynonymous SNV E2F2:NM_004091:exon4:c.G678T:p.Q226H 0.36 0.062 0.41 0.6 0.51 0.3 0.4514 0.1134 0.3623 0.6199 0.5781 0.5112 0.4570 0.3455 0.38 0.13 0.5 0.35 0.57 rs2075995 COSM3746872 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.44 0.092 T 0.985 0.592 D 0.669 0.512 P 0.000 0.457 D 0.024 0.392 P 2.15 0.603 M -2.0 0.854 D -1.61 0.387 N 0.132 0.152 -0.876 0.501 T 0.000 0.000 T . . . 4.114 0.552 23.8 0.996 0.717 0.775 0.378 D c 0.311 0.335 1.000 0.747 0.707 0.730 0 5.06 0.677 0.078 0.145 0.935 0.490 0.960 0.334 1.000 0.888 14.136 0.647 E2F transcription factor\x2c CC-MB domain ENSG00000204219.5|ENSG00000088280.14 Cells_Transformed_fibroblasts|Muscle_Skeletal 0.4550 0.1073 0.3645 0.4939 0.6122 0.5749 0.5072 0.4605 0.3486 0.4144 0.1110 0.3804 0.4503 0.6084 0.5833 0.5265 0.4969 het 1088.69 100 1 23847464 . C A 1088.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.180;DP=100;Dels=0.00;FS=2.749;HRun=0;HaplotypeScore=4.2716;MQ=59.77;MQ0=0;MQRankSum=-0.007;QD=10.89;ReadPosRankSum=-0.285;VQSLOD=5.5941;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,43:100:99:1119,0,1589 1 23885498 23885498 T C exonic ID3 nonsynonymous SNV ID3:NM_002167:exon2:c.A313G:p.T105A 0.89 0.99 0.74 0.97 0.76 0.92 0.8037 0.9508 0.7009 0.9754 0.6796 0.7620 0.8142 0.9101 0.82 0.94 0.76 0.88 0.77 rs11574 . . . . . . . . . . . . . 0.865 0.026 T 0.0 0.026 B 0.0 0.013 B 0.902 0.086 N 1 0.090 P -0.205 0.041 N -0.56 0.712 T 0.23 0.046 N 0.016 0.003 -0.986 0.337 T 0.000 0.000 T . . . -2.559 0.003 0.001 0.525 0.047 0.009 0.034 N c -1.707 -1.664 1.000 0.747 0.628 0.401 0 -2.76 0.055 -0.496 0.065 -1.609 0.009 0.000 0.063 0.145 0.203 4.909 0.131 . ENSG00000117318.8 Thyroid 0.7958 0.9544 0.7008 0.8988 0.9759 0.6854 0.7563 0.8021 0.9087 0.8086 0.9543 0.7303 0.9040 0.9746 0.6847 0.7405 0.7541 het 357.74 41 1 23885498 . T C 357.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=0.569;QD=8.73;ReadPosRankSum=-0.040;VQSLOD=6.6794;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:388,0,665 1 23965704 23965704 A C exonic MDS2 nonsynonymous SNV MDS2:NM_001348075:exon5:c.A109C:p.N37H 0.27 0.076 0.4 0.43 0.25 0.32 0.2848 0.1113 0.5187 0.4485 0.2446 0.2374 0.3056 0.3236 0.2 0.12 0.24 0.22 . rs10917403 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . 3.67 0.001 N 0.05 0.031 -0.954 0.404 T 0.000 0.000 T . . . -1.338 0.021 0.004 0.137 0.003 0.002 0.013 N c -0.807 -1.007 1.000 0.747 0.516 0.203 0 1.19 0.200 -0.884 0.042 -0.238 0.093 0.000 0.063 0.000 0.016 6.825 0.229 . . . 0.2901 0.1004 0.5002 0.2481 0.4397 0.2454 0.2337 0.2944 0.3090 0.2154 0.1022 0.4484 0.24 0.4637 0.2494 0.2318 0.2378 het 281.15 32 1 23965704 . A C 281.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.666;DP=32;Dels=0.00;FS=1.440;HRun=0;HaplotypeScore=3.8547;MQ=58.69;MQ0=0;MQRankSum=0.409;QD=8.79;ReadPosRankSum=0.058;VQSLOD=5.8618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:311,0,556 1 24134721 24134721 T C exonic HMGCL synonymous SNV HMGCL:NM_001166059:exon5:c.A441G:p.L147L,HMGCL:NM_000191:exon7:c.A654G:p.L218L 0.89 0.97 0.89 0.78 0.93 0.84 0.9042 0.9668 0.9007 0.7920 0.9631 0.9114 0.9108 0.8727 0.93 0.96 0.91 0.94 0.92 rs719400 . . Benign|Benign not_specified|Deficiency_of_hydroxymethylglutaryl-CoA_lyase RCV000078343.6|RCV000268428.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0268601:246450:124611007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9027 0.9674 0.8938 0.8706 0.7886 0.9592 0.9133 0.9081 0.8744 0.9306 0.9665 0.8816 0.8676 0.7829 0.9590 0.9234 0.9216 hom 5451.38 157 1 24134721 . T C 5451.38 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.85;MQ0=0;QD=34.72;VQSLOD=9.4761;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5451,427,0 1 24201094 24201094 G C exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.C1014G:p.T338T 0.65 0.79 0.64 0.5 0.59 0.7 0.6190 0.7589 0.7110 0.5385 0.5712 0.5720 0.6454 0.7159 0.63 0.75 0.57 0.67 0.57 rs2229581 COSM146443 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6179 0.7608 0.6862 0.5762 0.5298 0.5828 0.5747 0.6141 0.7176 0.6301 0.7604 0.6611 0.5795 0.5161 0.5759 0.5822 0.5714 hom 7092.22 229 1 24201094 . G C 7092.22 Mask AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5696;MQ=59.38;MQ0=0;QD=30.97;VQSLOD=7.7104;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:7091,566,0 1 24201109 24201109 C T exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.G999A:p.P333P 0.65 0.79 0.64 0.5 0.59 0.7 0.6190 0.7589 0.7112 0.5391 0.5712 0.5720 0.6454 0.7158 0.63 0.75 0.57 0.67 0.57 rs2229580 COSM146444 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6179 0.7608 0.6863 0.5762 0.5300 0.5829 0.5747 0.6141 0.7177 0.6302 0.7603 0.6603 0.5795 0.5155 0.5751 0.5829 0.5714 hom 7737.36 239 1 24201109 . C T 7737.36 Mask AC=2;AF=1.00;AN=2;DP=239;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=32.37;VQSLOD=9.2744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,239:239:99:7737,602,0 1 24201262 24201262 A G exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.T846C:p.A282A 0.65 0.79 0.64 0.5 0.59 0.7 0.6190 0.7589 0.7113 0.5389 0.5716 0.5719 0.6457 0.7160 0.63 0.75 0.57 0.67 0.57 rs2502993 COSM146445 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6179 0.7609 0.6863 0.5761 0.5302 0.5828 0.5747 0.6141 0.7177 0.6303 0.7604 0.6611 0.5767 0.5161 0.5754 0.5827 0.5706 hom 5467.72 156 1 24201262 . A G 5467.72 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8073;MQ=59.85;MQ0=0;QD=35.05;VQSLOD=9.3355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:5467,424,0 1 24201357 24201357 A G exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.T751C:p.L251L 0.65 0.79 0.64 0.5 0.59 0.7 0.6184 0.7587 0.7102 0.5370 0.5708 0.5712 0.6460 0.7159 0.63 0.75 0.57 0.67 0.57 rs4649124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6175 0.7610 0.6858 0.5758 0.5294 0.5824 0.5742 0.6136 0.7176 0.6307 0.7604 0.6627 0.5845 0.5173 0.5759 0.5830 0.5716 hom 3554.03 105 1 24201357 . A G 3554.03 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.19;MQ0=0;QD=33.85;VQSLOD=10.0554;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3554,277,0 1 24201448 24201448 C T exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.G660A:p.V220V 0.65 0.79 0.64 0.5 0.59 0.7 0.6191 0.7590 0.7111 0.5402 0.5708 0.5722 0.6477 0.7180 0.63 0.75 0.57 0.67 0.57 rs3003336 COSM146446 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6175 0.7607 0.6865 0.5758 0.5298 0.5828 0.5739 0.6148 0.7167 0.6303 0.7600 0.6611 0.5795 0.5174 0.5756 0.5828 0.5716 hom 2963.27 90 1 24201448 . C T 2963.27 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9815;MQ=59.26;MQ0=0;QD=32.93;VQSLOD=9.4669;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2996,244,0 1 24201643 24201643 G A exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.C465T:p.G155G 0.65 0.79 0.64 0.5 0.59 0.7 0.6198 0.7588 0.7117 0.5412 0.5716 0.5723 0.6460 0.7199 0.63 0.75 0.57 0.67 0.57 rs2501431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6181 0.7607 0.6867 0.5765 0.5305 0.5831 0.5746 0.6140 0.7178 0.6298 0.7601 0.6603 0.5833 0.5161 0.5757 0.5822 0.5694 hom 3172.23 98 1 24201643 . G A 3172.23 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9138;MQ=59.76;MQ0=0;QD=32.37;VQSLOD=8.9585;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3205,268,0 1 24201919 24201919 T C exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.A189G:p.Q63Q 0.65 0.8 0.64 0.5 0.59 0.7 0.6183 0.7586 0.7106 0.5381 0.5711 0.5711 0.6449 0.7157 0.61 0.73 0.55 . 0.49 rs2502992 COSM146447;COSM3751042 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6174 0.7610 0.6860 0.5763 0.5296 0.5825 0.5739 0.6136 0.7175 0.6287 0.7599 0.6603 0.5767 0.5126 0.5763 0.5800 0.5694 hom 4087.11 122 1 24201919 . T C 4087.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.241;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6198;MQ=58.43;MQ0=0;MQRankSum=1.472;QD=33.50;ReadPosRankSum=1.184;VQSLOD=7.6584;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,121:122:99:4055,299,0 1 24201920 24201920 T C exonic CNR2 nonsynonymous SNV CNR2:NM_001841:exon2:c.A188G:p.Q63R 0.65 0.79 0.64 0.5 0.59 0.7 0.6182 0.7575 0.7104 0.5376 0.5711 0.5711 0.6449 0.7156 0.61 0.73 0.55 . 0.5 rs2501432 COSM3927625;COSM146448 1(stomach);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.091 0.203 N 1 0.090 P -1.57 0.005 N -0.51 0.706 T 1.29 0.010 N 0.016 0.004 -0.955 0.400 T 0.000 0.000 T . . . -1.464 0.018 0.003 0.171 0.005 0.101 0.155 N c -0.914 -0.698 1.000 0.427 0.461 0.090 0 5.12 0.693 1.470 0.347 0.069 0.176 0.445 0.263 0.124 0.197 8.677 0.332 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000179163.11|ENSG00000188822.6|ENSG00000179163.11 Heart_Left_Ventricle|Testis|Whole_Blood 0.6174 0.7605 0.6859 0.5762 0.5296 0.5826 0.5739 0.6135 0.7175 0.6282 0.7589 0.6619 0.5805 0.5100 0.5760 0.5796 0.5706 hom 4132.49 126 1 24201920 . T C 4132.49 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3187;MQ=58.48;MQ0=0;QD=32.80;VQSLOD=6.2836;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4132,349,0 1 24393563 24393563 C T exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon28:c.G3371A:p.R1124Q 0.28 0.49 0.16 0.2 0.14 0.31 0.3076 0.4715 0.3078 0.3267 0.3458 0.2557 0.2724 0.3271 0.21 0.36 0.14 0.26 0.19 rs16829071 COSM3751049;COSM3751050 2(thyroid);1(large_intestine) . . . . . . . . . . . 0.059 0.375 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P 0 0.065 N 0.64 0.529 T 1.87 0.005 N 0.023 0.016 -0.981 0.348 T 0.000 0.000 T . . . 4.883 0.656 24.9 0.991 0.528 0.015 0.049 N c -0.559 -0.376 0.998 0.367 0.487 0.133 0 5.53 0.825 5.368 0.657 0.119 0.209 1.000 0.715 0.603 0.289 11.538 0.497 Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.1880 0.4006 0.1525 0.3030 0.1967 0.1129 0.1384 0.1957 0.2949 0.2034 0.3860 0.1938 0.2815 0.2144 0.1144 0.1198 0.1442 het 80.26 18 1 24393563 . C T 80.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.577;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=1.676;QD=4.46;ReadPosRankSum=-1.774;VQSLOD=4.5083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:110,0,341 1 24394811 24394811 A G exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon26:c.T3197C:p.I1066T 0.2 0.23 0.14 0.2 0.14 0.25 0.1636 0.2013 0.1276 0.1941 0.1193 0.1445 0.1633 0.2456 0.15 0.18 0.13 0.17 0.23 rs12145360 COSM3997372;COSM3997371 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.28 0.155 T 0.004 0.161 B 0.02 0.179 B 0.003 0.358 N 0.050 0.377 P 0.765 0.194 N 3.65 0.043 T -2.19 0.493 N 0.083 0.100 -0.912 0.467 T 0.000 0.000 T . . . 2.448 0.355 19.13 0.973 0.330 0.963 0.685 D c -0.195 -0.010 0.970 0.291 0.497 0.185 0 4.69 0.584 4.828 0.622 0.187 0.248 1.000 0.715 0.909 0.387 9.561 0.383 Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000203589.2 Esophagus_Muscularis 0.1636 0.2001 0.1364 0.3020 0.1978 0.1145 0.1363 0.1709 0.2450 0.1478 0.1931 0.1695 0.2815 0.2163 0.1155 0.1190 0.1283 het 3059.13 250 1 24394811 . A G 3059.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.609;DP=250;DS;Dels=0.00;FS=1.025;HRun=1;HaplotypeScore=5.9263;MQ=58.75;MQ0=0;MQRankSum=1.667;QD=12.24;ReadPosRankSum=0.199;VQSLOD=5.1068;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:3089,0,3856 1 24406535 24406535 G A exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon20:c.C2557T:p.P853S 0.089 0.0091 0.24 0.002 0.19 0.082 0.1715 0.0385 0.2938 0.0003 0.1996 0.2030 0.1779 0.1143 0.15 0.041 0.2 0.043 0.11 rs35446243 COSM3746880;COSM3746881 1(liver);1(thyroid) . . . . . . . . . . . 0.131 0.266 T 0.004 0.176 B 0.012 0.149 B 0.094 0.202 N 1 0.090 P -0.93 0.013 N 0.66 0.524 T -0.24 0.108 N 0.015 0.009 -1.013 0.260 T 0.000 0.000 T . . . 0.020 0.096 2.782 0.845 0.148 0.103 0.157 N c -1.023 -0.934 0.000 0.053 0.497 0.185 0 1.21 0.201 0.043 0.137 0.135 0.219 0.018 0.193 0.134 0.200 1.576 0.024 Fibronectin type III|Immunoglobulin-like fold . . 0.1749 0.0361 0.2833 0.1152 0.0005 0.2026 0.2054 0.1823 0.1105 0.1563 0.0379 0.2494 0.1126 0.0006 0.1928 0.2254 0.2157 het 1706.45 118 1 24406535 . G A 1706.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.391;DP=118;Dels=0.00;FS=3.455;HRun=0;HaplotypeScore=8.0844;MQ=58.41;MQ0=0;MQRankSum=0.402;QD=14.46;ReadPosRankSum=-0.297;VQSLOD=4.2855;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,64:118:99:1736,0,1440 1 24409165 24409165 C T exonic MYOM3 synonymous SNV MYOM3:NM_152372:exon17:c.G2010A:p.E670E 0.18 0.19 0.14 0.19 0.13 0.25 0.1593 0.1781 0.1253 0.1917 0.1178 0.1404 0.1618 0.2491 0.14 0.15 0.13 0.18 0.17 rs4320728 COSM3997373;COSM3997374 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1564 0.1740 0.1307 0.2854 0.1893 0.1127 0.1304 0.1603 0.2429 0.1380 0.1714 0.1671 0.2567 0.2098 0.1147 0.1130 0.1253 het 1666.39 130 1 24409165 . C T 1666.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.070;DP=130;Dels=0.00;FS=5.438;HRun=1;HaplotypeScore=1.9849;MQ=59.34;MQ0=0;MQRankSum=2.058;QD=12.82;ReadPosRankSum=0.684;VQSLOD=5.2664;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,65:130:99:1696,0,1714 1 24416059 24416059 T C exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon14:c.A1583G:p.D528G 0.98 0.93 0.98 1. 1. 1. 0.9940 0.9306 0.9967 1 1 0.9997 1 0.9999 0.98 0.94 1. 0.94 0.87 rs4393101 COSM4143595;COSM4143594 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.997 0.229 P -3.43 0.000 N 0.83 0.478 T 6.45 0.000 N 0.083 0.163 -0.935 0.434 T 0.000 0.000 T . . . 0.753 0.166 9.170 0.715 0.093 0.038 0.090 N c -1.007 -0.652 1.000 0.747 0.554 0.283 0 5.29 0.743 4.714 0.614 0.016 0.142 1.000 0.715 0.262 0.230 14.151 0.648 Fibronectin type III|Immunoglobulin-like fold . . 0.9951 0.9303 0.9968 1 0.9999 1 0.9996 0.9970 0.9998 0.9790 0.9281 0.9893 1 1 1 0.9997 0.9929 hom 329.44 10 1 24416059 . T C 329.44 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=32.94;VQSLOD=9.5604;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:362,30,0 1 24416133 24416133 C T exonic MYOM3 synonymous SNV MYOM3:NM_152372:exon14:c.G1509A:p.P503P 0.17 0.19 0.13 0.18 0.11 0.24 0.2006 0.2120 0.2024 0.2460 0.2080 0.1692 0.2037 0.2656 0.12 0.15 0.11 0.15 0.11 rs4276859 COSM3751057;COSM1340817 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1406 0.1670 0.1232 0.2264 0.1859 0.1037 0.1075 0.1497 0.2311 0.1254 0.1688 0.1487 0.2 0.1896 0.1065 0.0958 0.1102 het 137.87 14 1 24416133 . C T 137.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.406;DP=14;Dels=0.00;FS=2.522;HRun=0;HaplotypeScore=1.6643;MQ=56.62;MQ0=0;MQRankSum=-0.910;QD=9.85;ReadPosRankSum=0.068;VQSLOD=3.6270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:168,0,161 1 24417415 24417415 T C exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon12:c.A1304G:p.Q435R 0.17 0.24 0.13 0.003 0.18 0.27 0.1634 0.2135 0.0822 0.0035 0.1503 0.1668 0.1704 0.2655 0.17 0.2 0.16 0.18 0.19 rs6700245 COSM3751059;COSM3751058 1(large_intestine) . . . . . . . . . . . 0.371 0.115 T 0.003 0.102 B 0.021 0.181 B 0.074 0.213 N 0.994 0.235 P 0.105 0.085 N 0.44 0.566 T -0.7 0.199 N 0.029 0.022 -1.052 0.137 T 0.000 0.000 T . . . 1.257 0.216 12.05 0.980 0.372 0.681 0.334 D c -0.419 -0.219 0.986 0.309 0.403 0.052 0 3.03 0.339 1.813 0.384 1.061 0.807 1.000 0.715 0.998 0.697 3.636 0.076 Fibronectin type III|Immunoglobulin-like fold . . 0.1632 0.2163 0.0904 0.3254 0.0039 0.1571 0.1602 0.1681 0.2682 0.1632 0.2116 0.1026 0.3113 0.0043 0.1588 0.1536 0.1626 het 1281.60 124 1 24417415 . T C 1281.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.169;DP=124;Dels=0.00;FS=5.856;HRun=0;HaplotypeScore=6.2808;MQ=59.14;MQ0=0;MQRankSum=-0.837;QD=10.34;ReadPosRankSum=-0.145;VQSLOD=4.4049;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,57:124:99:1312,0,1847 1 24447468 24447468 G C exonic IL22RA1 nonsynonymous SNV IL22RA1:NM_021258:exon7:c.C1552G:p.R518G 0.47 0.29 0.4 0.73 0.4 0.55 0.4174 0.3088 0.4231 0.6988 0.3186 0.3816 0.3918 0.5202 0.37 0.3 0.41 0.45 0.27 rs3795299 COSM3751064 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.257 0.167 T 0.178 0.273 B 0.039 0.223 B 0.248 0.036 N 1 0.090 P 0.69 0.170 N 3.11 0.082 T -0.28 0.116 N 0.094 0.094 -0.974 0.363 T 0.000 0.000 T . . . 2.946 0.415 22.0 0.976 0.342 0.609 0.311 D c -0.563 -0.468 1.000 0.747 0.554 0.283 0 4.24 0.493 1.882 0.390 -0.304 0.080 0.976 0.346 0.001 0.043 11.300 0.483 . ENSG00000142677.3|ENSG00000142677.3|ENSG00000142661.14|ENSG00000142677.3|ENSG00000142661.14 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.4179 0.3116 0.4116 0.3833 0.7016 0.3124 0.3895 0.3937 0.5134 0.3716 0.3146 0.3840 0.3874 0.7064 0.3164 0.3801 0.3758 het 848.07 73 1 24447468 . G C 848.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.250;DP=73;Dels=0.00;FS=2.003;HRun=1;HaplotypeScore=1.9989;MQ=59.49;MQ0=0;MQRankSum=0.398;QD=11.62;ReadPosRankSum=1.239;VQSLOD=6.3268;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,30:73:99:878,0,1115 1 24447943 24447943 G A exonic IL22RA1 synonymous SNV IL22RA1:NM_021258:exon7:c.C1077T:p.V359V 0.12 0.22 0.062 0.003 0.097 0.16 0.0983 0.1934 0.0443 0.0033 0.0565 0.0996 0.0970 0.1687 0.13 0.19 0.098 0.11 0.13 rs34967816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0946 0.1944 0.0472 0.1491 0.0031 0.0583 0.0982 0.0918 0.1697 0.1132 0.1927 0.0644 0.1722 0.0025 0.0624 0.0936 0.0969 het 1649.27 119 1 24447943 . G A 1649.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.302;DP=119;Dels=0.00;FS=1.504;HRun=1;HaplotypeScore=3.5964;MQ=57.22;MQ0=0;MQRankSum=0.609;QD=13.86;ReadPosRankSum=0.619;VQSLOD=3.8684;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,60:119:99:1679,0,1467 1 24460797 24460797 T G exonic IL22RA1 synonymous SNV IL22RA1:NM_021258:exon4:c.A435C:p.P145P 0.52 0.7 0.46 0.3 0.61 0.47 0.5715 0.6933 0.3874 0.3207 0.6353 0.6206 0.5940 0.5289 0.63 0.69 0.6 0.55 0.7 rs17852649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5612 0.6955 0.4086 0.6564 0.3132 0.6330 0.6125 0.5843 0.5247 0.6248 0.7021 0.4567 0.6854 0.3122 0.6252 0.6229 0.6020 het 1219.14 91 1 24460797 . T G 1219.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.766;DP=91;Dels=0.00;FS=1.674;HRun=2;HaplotypeScore=1.8937;MQ=59.49;MQ0=0;MQRankSum=-0.472;QD=13.40;ReadPosRankSum=2.159;VQSLOD=6.0112;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,47:91:99:1249,0,1234 1 24465113 24465113 C T exonic IL22RA1 synonymous SNV IL22RA1:NM_021258:exon2:c.G135A:p.P45P 0.47 0.26 0.52 0.76 0.36 0.53 0.4218 0.2723 0.6095 0.7316 0.3558 0.3667 0.3894 0.4733 0.34 0.27 0.38 0.41 0.3 rs10903022 COSM3746889 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4294 0.2656 0.5862 0.3207 0.7358 0.3580 0.3723 0.4010 0.4674 0.3584 0.2588 0.5335 0.3079 0.7407 0.3668 0.3629 0.3806 het 1325.22 78 1 24465113 . C T 1325.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.901;DP=78;Dels=0.00;FS=0.895;HRun=0;HaplotypeScore=2.8612;MQ=59.52;MQ0=0;MQRankSum=0.568;QD=16.99;ReadPosRankSum=1.089;VQSLOD=6.0788;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,50:78:99:1355,0,609 1 24496085 24496085 G A exonic IFNLR1 synonymous SNV IFNLR1:NM_170743:exon3:c.C189T:p.P63P,IFNLR1:NM_173064:exon3:c.C189T:p.P63P,IFNLR1:NM_173065:exon3:c.C189T:p.P63P 0.12 0.29 0.043 0.033 0.042 0.097 0.0609 0.2588 0.0271 0.0370 0.0147 0.0355 0.0576 0.0974 0.11 0.24 0.037 0.14 0.049 rs34654982 COSM4415269 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0536 0.2610 0.0284 0.0513 0.0327 0.0130 0.0354 0.0466 0.0856 0.0961 0.2677 0.0370 0.0430 0.0197 0.0109 0.0320 0.0489 het 1356.40 116 1 24496085 . G A 1356.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DP=116;Dels=0.00;FS=1.590;HRun=0;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;MQRankSum=1.945;QD=11.69;ReadPosRankSum=0.866;VQSLOD=5.6683;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,54:116:99:1386,0,1704 1 24785393 24785393 C T exonic NIPAL3 synonymous SNV NIPAL3:NM_001322860:exon6:c.C306T:p.A102A,NIPAL3:NM_001322861:exon6:c.C306T:p.A102A,NIPAL3:NM_001322859:exon7:c.C306T:p.A102A,NIPAL3:NM_001322864:exon8:c.C786T:p.A262A,NIPAL3:NM_001322854:exon9:c.C789T:p.A263A,NIPAL3:NM_001322857:exon9:c.C789T:p.A263A,NIPAL3:NM_001322863:exon9:c.C543T:p.A181A,NIPAL3:NM_001322866:exon9:c.C762T:p.A254A,NIPAL3:NM_020448:exon9:c.C789T:p.A263A,NIPAL3:NM_001322855:exon10:c.C789T:p.A263A,NIPAL3:NM_001322856:exon10:c.C789T:p.A263A,NIPAL3:NM_001322858:exon10:c.C306T:p.A102A,NIPAL3:NM_001322862:exon10:c.C543T:p.A181A,NIPAL3:NM_001330409:exon10:c.C789T:p.A263A 0.31 0.16 0.44 0.45 0.28 0.29 0.2959 0.1677 0.4834 0.4564 0.2542 0.2692 0.2885 0.2867 0.23 0.16 0.26 0.29 0.17 rs2272935 COSM3746895;COSM3746894 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3037 0.1663 0.4611 0.3073 0.4624 0.2551 0.2639 0.3137 0.2879 0.2522 0.1705 0.4368 0.3046 0.4666 0.2506 0.2628 0.2926 het 1472.87 136 1 24785393 . C T 1472.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.210;DP=136;Dels=0.00;FS=1.397;HRun=1;HaplotypeScore=3.9084;MQ=59.40;MQ0=0;MQRankSum=-0.378;QD=10.83;ReadPosRankSum=-0.176;VQSLOD=6.1181;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,57:136:99:1503,0,2103 1 24859617 24859617 G A exonic RCAN3 synonymous SNV RCAN3:NM_001251980:exon3:c.G384A:p.P128P,RCAN3:NM_001251981:exon3:c.G240A:p.P80P,RCAN3:NM_001251983:exon3:c.G39A:p.P13P,RCAN3:NM_001251984:exon3:c.G39A:p.P13P,RCAN3:NM_001251977:exon4:c.G414A:p.P138P,RCAN3:NM_001251978:exon4:c.G414A:p.P138P,RCAN3:NM_001251979:exon4:c.G414A:p.P138P,RCAN3:NM_013441:exon4:c.G414A:p.P138P 0.38 0.25 0.33 0.68 0.32 0.37 0.3597 0.2613 0.3410 0.6500 0.328 0.3373 0.3455 0.3895 0.3 0.27 0.32 0.3 0.22 rs196429 COSM3746902 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3352 0.2548 0.2993 0.2722 0.6377 0.3106 0.3228 0.3200 0.3408 0.3236 0.2625 0.2983 0.2649 0.6475 0.3138 0.3286 0.3320 het 642.96 46 1 24859617 . G A 642.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.315;DP=46;Dels=0.00;FS=1.988;HRun=0;HaplotypeScore=2.7743;MQ=59.50;MQ0=0;MQRankSum=0.634;QD=13.98;ReadPosRankSum=0.603;VQSLOD=6.2995;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,25:46:99:673,0,357 1 24859665 24859665 G A exonic RCAN3 synonymous SNV RCAN3:NM_001251980:exon3:c.G432A:p.P144P,RCAN3:NM_001251981:exon3:c.G288A:p.P96P,RCAN3:NM_001251983:exon3:c.G87A:p.P29P,RCAN3:NM_001251984:exon3:c.G87A:p.P29P,RCAN3:NM_001251977:exon4:c.G462A:p.P154P,RCAN3:NM_001251978:exon4:c.G462A:p.P154P,RCAN3:NM_001251979:exon4:c.G462A:p.P154P,RCAN3:NM_013441:exon4:c.G462A:p.P154P 0.38 0.25 0.33 0.68 0.32 0.37 0.3552 0.2603 0.3417 0.6501 0.3245 0.3346 0.3456 0.3659 0.3 0.27 0.32 0.3 0.22 rs196430 COSM3746903 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3445 0.2576 0.3155 0.2855 0.6430 0.3146 0.3294 0.3314 0.3583 0.3238 0.2641 0.3005 0.2649 0.6461 0.3139 0.3282 0.3313 het 1052.65 76 1 24859665 . G A 1052.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.916;DP=76;Dels=0.00;FS=3.172;HRun=0;HaplotypeScore=4.9350;MQ=58.56;MQ0=0;MQRankSum=1.775;QD=13.85;ReadPosRankSum=0.578;VQSLOD=4.9995;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,38:76:99:1083,0,876 1 24861704 24861704 G A exonic RCAN3 nonsynonymous SNV RCAN3:NM_001251985:exon2:c.G317A:p.R106Q,RCAN3:NM_001251982:exon3:c.G491A:p.R164Q 0.51 0.47 0.4 0.73 0.46 0.47 0.4822 0.4614 0.3865 0.7088 0.5061 0.4726 0.4525 0.4742 0.46 0.46 0.46 0.45 0.3 rs196432 COSM1341222 1(large_intestine) . . . . . . . . . . . 1.0 0.021 T 0.014 0.156 B 0.005 0.104 B . . . 1.000 0.588 P . . . . . . 0.68 0.070 N . . -1.029 0.207 T 0.000 0.000 T . . . 0.365 0.129 6.307 0.872 0.165 0.036 0.087 N c -2.199 -2.346 1.0 0.983 0.652 0.477 0 -11.6 0.000 -3.514 0.005 -2.227 0.004 0.000 0.063 0.080 0.181 9.401 0.374 Nucleotide-binding alpha-beta plait domain ENSG00000001461.12 Thyroid 0.4716 0.4608 0.3745 0.3810 0.7079 0.4946 0.4706 0.4547 0.4691 0.4811 0.4594 0.3711 0.3933 0.7036 0.4851 0.4767 0.4807 het 763.80 50 1 24861704 . G A 763.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.808;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=-0.934;QD=15.28;ReadPosRankSum=-0.253;VQSLOD=6.3753;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,27:50:99:794,0,542 1 25291010 25291010 A T exonic RUNX3 nonsynonymous SNV RUNX3:NM_001031680:exon1:c.T53A:p.I18N,RUNX3:NM_001320672:exon2:c.T53A:p.I18N 0.58 0.39 0.72 0.69 0.52 0.68 0.5703 0.4606 0.7847 0.7180 0.5685 0.4982 0.6003 0.6853 0.46 0.42 0.48 0.48 0.42 rs6672420 COSM3751117 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.013 0.538 D 1.0 0.899 D 0.994 0.807 D 0.414 0.046 N 0.783 0.293 P . . . -4.2 0.969 D -2.02 0.465 N 0.11 0.118 -0.903 0.477 T 0.000 0.000 T . . . 3.109 0.433 22.5 0.970 0.312 0.944 0.607 D c 0.446 0.455 1.000 0.747 0.497 0.185 0 5.67 0.876 5.815 0.687 1.199 0.960 1.000 0.715 0.931 0.405 12.316 0.541 . . . 0.5599 0.4203 0.7517 0.5046 0.7106 0.5332 0.4753 0.5568 0.6737 0.4953 0.4242 0.7208 0.4934 0.7395 0.5298 0.4873 0.5318 het 533.54 32 1 25291010 . A T 533.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.061;DP=32;Dels=0.00;FS=6.205;HRun=1;HaplotypeScore=0.9983;MQ=58.83;MQ0=0;MQRankSum=-0.305;QD=16.67;ReadPosRankSum=0.996;VQSLOD=4.0617;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,22:32:99:564,0,247 1 25570081 25570081 T C exonic RSRP1 nonsynonymous SNV RSRP1:NM_001321772:exon4:c.A716G:p.E239G,RSRP1:NM_020317:exon4:c.A716G:p.E239G 0.11 0.013 0.21 0.033 0.27 0.073 0.1996 0.0465 0.1331 0.0240 0.2628 0.2731 0.2274 0.1111 0.2 0.054 0.27 0.054 0.23 rs1043879 COSM5001454 1(pancreas) . . . . . . . . . . . 0.007 0.599 D 0.087 0.234 B 0.063 0.256 B 0.290 0.148 N 0.921 0.273 P 1.15 0.294 L 1.36 0.344 T -3.87 0.726 D 0.067 0.243 -1.036 0.185 T 0.000 0.000 T . . . 2.968 0.417 22.1 0.993 0.588 0.774 0.377 D c -0.407 -0.378 1.000 0.747 0.719 0.830 0 3.97 0.451 1.992 0.401 1.011 0.635 1.000 0.715 0.483 0.268 8.521 0.323 . ENSG00000187010.14|ENSG00000187010.14|ENSG00000188672.12|ENSG00000187010.14|ENSG00000224183.1|ENSG00000183726.6|ENSG00000187010.14|ENSG00000188672.12|ENSG00000187010.14|ENSG00000188672.12|ENSG00000188672.12|ENSG00000188672.12|ENSG00000224183.1|ENSG00000187010.14|ENSG00000188672.12|ENSG00000183726.6|ENSG00000187010.14|ENSG00000188672.12|ENSG00000187010.14|ENSG00000188672.12|ENSG00000224183.1|ENSG00000187010.14|ENSG00000204178.5|ENSG00000188672.12|ENSG00000187010.14|ENSG00000259984.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2030 0.0436 0.1487 0.3812 0.0218 0.2616 0.2655 0.2355 0.1110 0.1827 0.0485 0.1814 0.44 0.0216 0.2692 0.2505 0.2214 het 1509.97 120 1 25570081 . T C 1509.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.755;DP=120;Dels=0.00;FS=1.494;HRun=1;HaplotypeScore=0.9995;MQ=59.27;MQ0=0;MQRankSum=1.059;QD=12.58;ReadPosRankSum=-0.658;VQSLOD=6.7439;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,65:120:99:1540,0,1243 1 25572984 25572984 T G exonic RSRP1 nonsynonymous SNV RSRP1:NM_001321772:exon2:c.A471C:p.R157S,RSRP1:NM_020317:exon2:c.A471C:p.R157S 0.015 . 0.0072 . 0.043 0.03 0.0344 0.0071 0.0130 0.0002 0.0668 0.0410 0.0343 0.0449 0.028 0.0061 0.04 . 0.057 rs34484514 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.994 0.807 D 0.001 0.432 D 1.000 0.090 N 1.935 0.520 L 0.06 0.672 T -5.45 0.854 D 0.278 0.341 -0.583 0.655 T 0.132 0.444 T . . . 4.441 0.595 24.2 0.985 0.422 0.093 0.149 N c -0.406 -0.703 1.000 0.747 0.628 0.401 0 -4.75 0.030 -1.872 0.017 0.141 0.225 0.001 0.137 0.330 0.242 13.205 0.590 . ENSG00000261349.1|ENSG00000261349.1|ENSG00000261349.1 Artery_Tibial|Esophagus_Mucosa|Thyroid 0.0343 0.0067 0.0141 0.0245 0.0002 0.0610 0.0422 0.0325 0.0444 0.0345 0.0066 0.0191 0.0099 0 0.0578 0.0505 0.0337 het 2503.17 232 1 25572984 . T G 2503.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.768;DP=232;DS;Dels=0.00;FS=2.291;HRun=0;HaplotypeScore=3.8192;MQ=59.44;MQ0=0;MQRankSum=1.338;QD=10.79;ReadPosRankSum=-0.348;VQSLOD=5.6684;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:135,97:232:99:2533,0,3534 1 25889632 25889632 T C exonic LDLRAP1 nonsynonymous SNV LDLRAP1:NM_015627:exon6:c.T604C:p.S202P 0.43 0.32 0.51 0.44 0.52 0.44 0.5011 0.3527 0.5547 0.4507 0.5026 0.5376 0.5223 0.4334 0.47 0.34 0.53 0.33 0.52 rs6687605 COSM4440827 2(large_intestine) Benign|Benign Familial_hypercholesterolemia|not_specified RCV000386734.1|RCV000427792.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen C0020445:143890:397915002:398036000|CN169374 . . . . . . 0.14 0.256 T 0.079 0.230 B 0.048 0.236 B 0.252 0.155 N 1 0.090 P 1.755 0.458 L 0.36 0.579 T -0.76 0.212 N 0.023 0.006 -0.928 0.445 T 0.000 0.000 T . . . -1.042 0.030 0.013 0.596 0.061 0.021 0.061 N c -1.872 -1.900 1.000 0.517 0.646 0.450 0 -2.44 0.061 -0.666 0.053 -2.495 0.003 0.000 0.063 0.000 0.016 2.213 0.037 . ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hippocampus|Breast_Mammary_Tissue|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Ovary|Pancreas|Spleen|Thyroid|Whole_Blood 0.5055 0.3506 0.5521 0.5818 0.4496 0.5021 0.5346 0.5290 0.4316 0.4730 0.3534 0.5421 0.5960 0.4418 0.4860 0.5351 0.4969 hom 1409.68 45 1 25889632 . T C 1409.68 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=1.8646;MQ=59.03;MQ0=0;QD=31.33;VQSLOD=9.5429;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1443,114,0 1 25890189 25890189 A G exonic LDLRAP1 synonymous SNV LDLRAP1:NM_015627:exon7:c.A654G:p.T218T 0.59 0.83 0.6 0.44 0.53 0.45 0.5515 0.7906 0.5881 0.4524 0.5021 0.5497 0.5682 0.4533 0.63 0.78 0.56 0.55 0.59 rs28969504 COSM3751120 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Familial_hypercholesterolemia|not_specified RCV000329172.1|RCV000435861.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen C0020445:143890:397915002:398036000|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5492 0.7968 0.5897 0.6212 0.4510 0.5040 0.5471 0.5655 0.4513 0.6038 0.7868 0.5967 0.6258 0.4431 0.4880 0.5469 0.5244 hom 1936.26 68 1 25890189 . A G 1936.26 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=28.47;VQSLOD=8.5979;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:68:99:1969,162,0 1 26131654 26131654 G A exonic SELENON unknown UNKNOWN 0.84 0.75 0.89 0.94 0.78 0.9 0.8144 0.7804 0.9150 0.9416 0.7282 0.7777 0.8158 0.8805 . . . 0.76 0.7 rs7349185 COSM4594405 1(upper_aerodigestive_tract) Benign|Benign not_specified|SEPN1-Related_Disorders RCV000082016.9|RCV000371932.1 MedGen|MedGen CN169374|CN239420 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.076 0.212 N 1 0.090 P 1.1 0.281 L 0.68 0.520 T 2.8 0.002 N 0.07 0.236 -0.907 0.472 T 0.000 0.000 T . . . -0.989 0.032 0.017 0.318 0.018 0.008 0.031 N c -1.121 -1.048 1.000 0.517 0.696 0.567 0 1.58 0.224 0.869 0.275 0.241 0.266 0.358 0.256 0.906 0.385 0.970 0.013 . ENSG00000272478.1|ENSG00000117640.13|ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000162430.12|ENSG00000228172.1|ENSG00000162430.12 Artery_Tibial|Artery_Tibial|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Thyroid 0.8181 0.7786 0.9056 0.7882 0.9425 0.7230 0.7833 0.8128 0.8774 0.7820 0.7789 0.9007 0.7781 0.9363 0.7357 0.7726 0.7643 hom 3932.86 128 1 26131654 . G A 3932.86 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.705;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3714;MQ=58.46;MQ0=0;MQRankSum=1.596;QD=30.73;ReadPosRankSum=0.832;VQSLOD=5.6727;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,127:128:99:3932,340,0 1 26136282 26136282 C T exonic SELENON unknown UNKNOWN 0.01 0.0008 0.019 . 0.031 0.0061 0.0251 0.0085 0.0195 0 0.0144 0.0379 0.0167 0.0052 0.031 0.0095 0.042 0.011 0.066 rs147587542 COSM5653779 1(haematopoietic_and_lymphoid_tissue) other|Likely benign not_specified|SEPN1-Related_Disorders RCV000082021.9|RCV000406527.1 MedGen|MedGen CN169374|CN239420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0256 0.0075 0.0196 0.0227 0 0.0181 0.0411 0.0261 0.0054 0.0298 0.0086 0.0167 0.0265 0 0.0226 0.0476 0.0336 het 2406.70 188 1 26136282 . C T 2406.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.604;DP=188;Dels=0.00;FS=8.496;HRun=0;HaplotypeScore=6.5302;MQ=59.75;MQ0=0;MQRankSum=0.504;QD=12.80;ReadPosRankSum=0.323;VQSLOD=2.8976;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,91:188:99:2437,0,2277 1 26138262 26138262 T C exonic SELENON unknown UNKNOWN 0.79 0.56 0.85 0.97 0.78 0.9 0.8132 0.6368 0.9016 0.9641 0.7717 0.7917 0.8045 0.8825 0.74 0.63 0.79 0.74 0.45 rs760597 COSM1127046 1(oesophagus);1(prostate) Benign|Benign not_specified|SEPN1-Related_Disorders RCV000082009.8|RCV000358370.1 MedGen|MedGen CN169374|CN239420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8096 0.6070 0.8895 0.7706 0.9651 0.7417 0.7843 0.8128 0.8773 0.7396 0.6114 0.8819 0.7450 0.9667 0.7547 0.7761 0.7664 hom 517.83 18 1 26138262 . T C 517.83 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;QD=28.77;VQSLOD=8.3958;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:42.13:551,42,0 1 26140573 26140573 C A exonic SELENON unknown UNKNOWN 0.7 0.21 0.83 0.97 0.78 0.9 0.7747 0.2938 0.8902 0.9643 0.7486 0.7769 0.7964 0.8804 0.63 0.32 0.79 0.55 0.72 rs2294228 COSM4143697 1(thyroid) Benign|Benign not_specified|SEPN1-Related_Disorders RCV000082012.8|RCV000299948.1 MedGen|MedGen CN169374|CN239420 . . . . . . 0.053 0.491 T 0.0 0.026 B 0.001 0.040 B 0.054 0.228 N 0.999 0.361 P 1.525 0.387 L -2.36 0.882 D -1.8 0.526 N 0.012 0.071 -0.998 0.306 T 0.000 0.000 T . . . 2.958 0.416 22.1 0.978 0.356 0.368 0.254 N c -0.749 -0.748 0.983 0.304 0.672 0.522 0 2.58 0.299 0.140 0.158 0.023 0.146 0.718 0.286 0.032 0.149 7.686 0.275 . ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000162430.12|ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000272478.1|ENSG00000162430.12|ENSG00000117640.13|ENSG00000228172.1|ENSG00000272478.1|ENSG00000117640.13 Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Thyroid|Thyroid 0.7861 0.2900 0.8782 0.7697 0.9655 0.7439 0.7829 0.7973 0.8771 0.6485 0.2947 0.8513 0.7450 0.9654 0.7549 0.7748 0.7526 hom 3451.44 111 1 26140573 . C A 3451.44 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.4833;MQ=58.45;MQ0=0;QD=31.09;VQSLOD=7.9826;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:111:99:3451,280,0 1 26357656 26357656 C A exonic EXTL1 nonsynonymous SNV EXTL1:NM_004455:exon5:c.C1135A:p.H379N 0.59 0.2 0.73 0.75 0.7 0.76 0.6742 0.2742 0.7677 0.7315 0.8157 0.6854 0.7192 0.7263 0.55 0.29 0.68 0.45 0.69 rs2736831 . . . . . . . . . . . . . 0.083 0.330 T 0.029 0.185 B 0.01 0.139 B 0.019 0.273 N 0.557 0.313 P 1.59 0.404 L -3.54 0.948 D -0.84 0.229 N 0.057 0.040 -0.903 0.477 T 0.000 0.000 T . . . 3.943 0.531 23.5 0.971 0.320 0.677 0.333 D c -0.449 -0.398 1.000 0.747 0.516 0.203 0 4.7 0.586 1.364 0.336 0.935 0.490 0.001 0.137 0.810 0.339 16.601 0.846 . ENSG00000158008.5|ENSG00000158008.5|ENSG00000158006.9|ENSG00000142675.13|ENSG00000158014.10|ENSG00000158022.6 Artery_Aorta|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6864 0.2688 0.7504 0.5917 0.7204 0.8187 0.6896 0.6960 0.7266 0.6026 0.2823 0.7237 0.5828 0.7333 0.8200 0.7103 0.7188 het 1553.27 136 1 26357656 . C A 1553.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.629;DP=136;Dels=0.00;FS=0.647;HRun=1;HaplotypeScore=3.6155;MQ=59.42;MQ0=0;MQRankSum=0.350;QD=11.42;ReadPosRankSum=-0.390;VQSLOD=6.4296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,64:136:99:1583,0,1867 1 26392824 26392824 C A exonic TRIM63 synonymous SNV TRIM63:NM_032588:exon2:c.G267T:p.V89V 0.018 0.003 0.029 . 0.065 0.0031 0.0529 0.0135 0.0286 0 0.0604 0.0801 0.0509 0.0102 0.061 0.016 0.084 0.022 0.11 rs35123100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0545 0.0126 0.0300 0.0541 0 0.0655 0.0864 0.0498 0.0105 0.0659 0.0140 0.0322 0.0596 0 0.0698 0.1033 0.0825 het 1396.98 103 1 26392824 . C A 1396.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.974;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7320;MQ=59.33;MQ0=0;MQRankSum=0.274;QD=13.56;ReadPosRankSum=0.182;VQSLOD=6.3759;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,54:103:99:1427,0,1337 1 26487940 26487940 A G exonic FAM110D nonsynonymous SNV FAM110D:NM_024869:exon2:c.A158G:p.H53R 0.19 0.04 0.23 0.27 0.33 0.13 0.3310 0.1086 0.3640 0.3656 0.4848 0.4094 0.3195 0.1898 0.22 0.069 0.3 0.14 0.066 rs3748856 COSM3749044 3(large_intestine) . . . . . . . . . . . 0.531 0.070 T 0.677 0.394 P 0.326 0.402 B 0.070 0.216 U 0.894 0.278 P 1.32 0.331 L 1.08 0.394 T -1.48 0.362 N 0.096 0.097 -0.947 0.416 T 0.000 0.000 T . . . 1.147 0.205 11.47 0.706 0.091 0.229 0.217 N c -0.364 -0.329 1.000 0.747 0.658 0.486 0 4.42 0.526 0.582 0.234 1.005 0.623 0.041 0.208 0.790 0.333 13.078 0.583 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000236782.1|ENSG00000175087.5|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2722 0.0688 0.2351 0.2480 0.2787 0.3688 0.3276 0.2863 0.1680 0.2486 0.0707 0.2266 0.2517 0.2824 0.3548 0.3224 0.2863 het 45.74 10 1 26487940 . A G 45.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=0.248;QD=4.57;ReadPosRankSum=1.422;VQSLOD=4.3872;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:75.74:76,0,148 1 26520292 26520292 G T exonic CATSPER4 nonsynonymous SNV CATSPER4:NM_198137:exon3:c.G372T:p.L124F 0.023 0.0023 0.036 . 0.084 0.0051 0.0539 0.0135 0.0274 0 0.0803 0.0799 0.0552 0.0104 0.064 0.015 0.089 0.022 0.098 rs12138368 . . . . . . . . . . . . . 0.189 0.212 T 0.005 0.119 B 0.007 0.121 B 0.023 0.265 N 0.992 0.239 N 1.935 0.520 L -4.45 0.975 D -0.89 0.240 N 0.125 0.261 -0.465 0.699 T 0.103 0.381 T . . . 1.160 0.206 11.54 0.950 0.254 0.834 0.422 D c -0.931 -0.806 0.000 0.029 0.581 0.326 0 -1.38 0.085 0.056 0.140 -0.743 0.035 0.996 0.391 0.975 0.474 4.688 0.121 Ion transport domain ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000176092.9|ENSG00000142684.7|ENSG00000236782.1|ENSG00000176092.9|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.0561 0.0130 0.0298 0.0533 0 0.0840 0.0858 0.0501 0.0112 0.0671 0.0143 0.0335 0.0596 0 0.0859 0.1014 0.0878 het 2261.09 157 1 26520292 . G T 2261.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.185;DP=157;Dels=0.00;FS=2.063;HRun=2;HaplotypeScore=1.8519;MQ=59.47;MQ0=0;MQRankSum=-1.166;QD=14.40;ReadPosRankSum=-0.641;VQSLOD=6.2685;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,90:157:99:2291,0,1882 1 26527884 26527884 G A exonic CATSPER4 synonymous SNV CATSPER4:NM_198137:exon9:c.G1239A:p.E413E 0.023 0.0023 0.036 . 0.081 0.0051 0.0534 0.0129 0.0273 0 0.0813 0.0790 0.0543 0.0106 0.063 0.015 0.088 0.011 0.057 rs41310785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0556 0.0124 0.0297 0.0532 0 0.0862 0.0845 0.0492 0.0112 0.0664 0.0140 0.0346 0.0596 0 0.0875 0.0998 0.0881 het 2261.82 153 1 26527884 . G A 2261.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.693;DP=153;Dels=0.00;FS=2.389;HRun=1;HaplotypeScore=0.9992;MQ=59.51;MQ0=0;MQRankSum=-2.622;QD=14.78;ReadPosRankSum=-0.266;VQSLOD=4.6266;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,82:153:99:2292,0,1956 1 26527951 26527951 G A exonic CATSPER4 nonsynonymous SNV CATSPER4:NM_198137:exon9:c.G1306A:p.D436N 0.21 0.37 0.17 0.022 0.27 0.16 0.2235 0.3474 0.1109 0.0178 0.2753 0.2563 0.2203 0.1795 0.29 0.34 0.26 0.29 0.28 rs6657616 COSM4143709 1(thyroid) . . . . . . . . . . . 0.084 0.329 T 0.779 0.423 P 0.251 0.373 B 0.029 0.255 N 1 0.090 P 1.905 0.510 L -4.39 0.974 D -0.9 0.242 N 0.011 0.072 -1.190 0.002 T 0.000 0.000 T . . . 1.510 0.244 13.37 0.996 0.735 0.083 0.141 N c -0.335 -0.415 1.0 0.983 0.534 0.214 0 3.1 0.346 1.710 0.373 0.998 0.613 0.052 0.213 0.003 0.074 5.74 0.172 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000188782.3|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000169442.4|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood 0.2195 0.3520 0.1166 0.2277 0.0184 0.2842 0.2608 0.2196 0.1796 0.2806 0.3563 0.1504 0.2185 0.0198 0.2872 0.2731 0.2608 het 3930.54 250 1 26527951 . G A 3930.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.070;DP=250;DS;Dels=0.00;FS=0.470;HRun=1;HaplotypeScore=6.3014;MQ=59.00;MQ0=0;MQRankSum=0.496;QD=15.72;ReadPosRankSum=0.287;VQSLOD=4.1927;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,137:250:99:3345,0,2837 1 26582091 26582091 G A exonic CEP85 nonsynonymous SNV CEP85:NM_001281517:exon3:c.G485A:p.S162N,CEP85:NM_001319944:exon4:c.G638A:p.S213N,CEP85:NM_022778:exon4:c.G638A:p.S213N 0.19 0.058 0.24 0.26 0.3 0.13 0.2533 0.0867 0.2539 0.2477 0.2994 0.3003 0.2720 0.1515 0.24 0.095 0.31 0.21 0.25 rs3795686 COSM3997449 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.646 0.049 T 0.0 0.026 B 0.001 0.040 B 0.000 0.460 D 0.995 0.233 P -0.205 0.041 N 2.78 0.113 T -0.42 0.144 N 0.002 0.000 -0.933 0.437 T 0.000 0.000 T . . . -1.101 0.028 0.010 0.679 0.082 0.032 0.081 N c -1.174 -1.058 0.235 0.185 0.707 0.730 0 4.24 0.493 1.935 0.396 0.201 0.252 0.732 0.287 0.281 0.234 9.919 0.404 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000158062.16|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid 0.2596 0.0809 0.2547 0.2700 0.2520 0.3014 0.3052 0.2943 0.1530 0.2318 0.0879 0.2428 0.2881 0.2369 0.2956 0.2959 0.2688 het 2183.70 222 1 26582091 . G A 2183.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.662;DP=222;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.53;MQ0=0;MQRankSum=1.390;QD=9.84;ReadPosRankSum=0.746;VQSLOD=6.6861;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:130,92:222:99:2214,0,3520 1 26609259 26609259 C T exonic UBXN11 synonymous SNV UBXN11:NM_001077262:exon10:c.G813A:p.T271T,UBXN11:NM_145345:exon14:c.G1074A:p.T358T,UBXN11:NM_183008:exon15:c.G1173A:p.T391T 0.38 0.32 0.39 0.31 0.63 0.29 0.5273 0.3816 0.3836 0.29 0.5957 0.6443 0.5478 0.3371 0.58 0.42 0.66 0.43 0.62 rs7522905 COSM4143717 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5252 0.3741 0.3977 0.6179 0.2920 0.5966 0.6482 0.5698 0.3352 0.5362 0.3862 0.4330 0.6026 0.2797 0.5967 0.6387 0.5786 hom 3999.62 130 1 26609259 . C T 3999.62 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7741;MQ=59.39;MQ0=0;QD=30.77;VQSLOD=7.7153;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3999,316,0 1 26610891 26610891 A C exonic UBXN11 nonsynonymous SNV UBXN11:NM_001077262:exon7:c.T575G:p.L192R,UBXN11:NM_145345:exon11:c.T836G:p.L279R,UBXN11:NM_183008:exon12:c.T935G:p.L312R 0.73 0.88 0.69 0.46 0.93 0.61 0.8276 0.8816 0.6272 0.4478 0.9031 0.9342 0.8618 0.6702 0.92 0.88 0.94 0.81 0.83 rs4332350 COSM3997450 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.555 0.068 T 0.0 0.026 B 0.0 0.013 B 0.372 0.044 N 1 0.090 P -2.2 0.001 N 2.35 0.162 T 1.45 0.009 N 0.055 0.326 -1.021 0.235 T 0.000 0.000 T . . . -0.960 0.033 0.019 0.644 0.073 0.003 0.018 N c -1.632 -1.597 1.000 0.747 0.722 0.854 0 -2.06 0.069 -0.358 0.076 -0.459 0.055 0.000 0.063 0.301 0.237 3.125 0.060 SEP domain ENSG00000130695.9|ENSG00000130695.9 Heart_Atrial_Appendage|Heart_Left_Ventricle 0.8220 0.8828 0.6537 0.9412 0.4420 0.9095 0.9348 0.8641 0.6710 0.8825 0.8874 0.6950 0.9139 0.4488 0.9082 0.9313 0.8684 hom 2102.03 72 1 26610891 . A C 2102.03 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=29.19;VQSLOD=8.5990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2135,177,0 1 26646726 26646726 A G exonic CD52 nonsynonymous SNV CD52:NM_001803:exon2:c.A119G:p.N40S 0.58 0.63 0.58 0.44 0.74 0.5 0.6711 0.6561 0.5513 0.4292 0.6992 0.7541 0.7004 0.5422 0.73 0.67 0.77 0.65 0.72 rs1071849 COSM1180632 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.009 0.139 B 0.007 0.121 B 0.493 0.120 N 1 0.090 P . . . 1.72 0.266 T -1.44 0.354 N 0.02 0.004 -1.013 0.260 T 0.000 0.000 T . . . 0.422 0.135 6.804 0.853 0.153 0.010 0.038 N c -1.074 -1.161 1.000 0.467 0.628 0.401 0 -1.87 0.073 0.160 0.162 -0.126 0.112 0.000 0.063 0.000 0.016 4.278 0.102 . ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000158062.16|ENSG00000169442.4 Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Whole_Blood 0.6692 0.6558 0.5715 0.7643 0.4228 0.7058 0.7561 0.7109 0.5397 0.6982 0.6600 0.5947 0.7517 0.4265 0.7104 0.7523 0.6895 hom 3528.38 110 1 26646726 . A G 3528.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.644;DP=110;Dels=0.00;FS=3.100;HRun=0;HaplotypeScore=1.9963;MQ=59.60;MQ0=0;MQRankSum=-0.548;QD=32.08;ReadPosRankSum=-0.839;VQSLOD=4.5735;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,108:110:99:3457,202,0 1 26646730 26646730 A G exonic CD52 nonsynonymous SNV CD52:NM_001803:exon2:c.A123G:p.I41M 0.58 0.63 0.58 0.44 0.74 0.5 0.6711 0.6562 0.5514 0.4293 0.6992 0.7541 0.7004 0.5423 0.73 0.67 0.77 0.65 0.72 rs17645 COSM1180633 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.294 0.148 T 0.0 0.026 B 0.001 0.040 B 0.258 0.037 N 1 0.090 P . . . 1.53 0.304 T -0.68 0.195 N 0.062 0.047 -0.972 0.367 T 0.000 0.000 T . . . -0.605 0.050 0.122 0.315 0.018 0.002 0.010 N c -1.118 -1.127 1.000 0.517 0.628 0.401 0 3.42 0.381 0.094 0.148 -0.760 0.034 0.000 0.063 0.000 0.016 7.166 0.247 . ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000158062.16|ENSG00000169442.4 Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Whole_Blood 0.6692 0.6559 0.5714 0.7645 0.4225 0.7058 0.7560 0.7104 0.5395 0.6981 0.6601 0.5962 0.7517 0.4265 0.7104 0.7518 0.6895 hom 3811.80 118 1 26646730 . A G 3811.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.998;DP=118;Dels=0.00;FS=5.367;HRun=0;HaplotypeScore=2.8284;MQ=59.24;MQ0=0;MQRankSum=0.969;QD=32.30;ReadPosRankSum=-1.116;VQSLOD=4.2992;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,117:118:99:3775,259,0 1 26673076 26673076 G A exonic CRYBG2 nonsynonymous SNV CRYBG2:NM_001039775:exon2:c.C73T:p.R25W 0.18 0.15 0.19 0.15 0.19 0.23 0.2614 0.2089 0.2770 0.2421 0.2873 0.2633 0.26 0.2721 0.18 0.14 0.19 0.2 . rs11247924 . . . . . . . . . . . . . 0.038 0.427 D 1.0 0.899 D 0.994 0.807 D . . . 0.987 0.245 P . . . 1.97 0.221 T -6.06 0.898 D 0.272 0.330 -1.061 0.114 T 0.000 0.000 T . . . 2.971 0.417 22.1 0.999 0.987 0.150 0.185 N c 0.159 0.094 0.053 0.149 0.615 0.372 0 3.01 0.337 1.170 0.313 0.857 0.375 0.177 0.238 0.992 0.562 9.806 0.398 Gamma-crystallin-related ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000130695.9|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000130695.9|ENSG00000142684.7 Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.1978 0.1527 0.1947 0.1921 0.1583 0.1995 0.1995 0.1855 0.2394 0.1900 0.1442 0.1802 0.2053 0.1745 0.2005 0.2164 0.1844 het 164.27 13 1 26673076 . G A 164.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.244;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.20;MQ0=0;MQRankSum=0.244;QD=12.64;ReadPosRankSum=1.134;VQSLOD=5.8604;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,7:13:99:194,0,119 1 26691174 26691174 C A exonic ZNF683 nonsynonymous SNV ZNF683:NM_001114759:exon4:c.G863T:p.R288L,ZNF683:NM_001307925:exon4:c.G863T:p.R288L,ZNF683:NM_173574:exon4:c.G863T:p.R288L 0.26 0.12 0.42 0.28 0.34 0.25 0.3251 0.1631 0.4042 0.2583 0.3815 0.3561 0.3377 0.2577 0.29 0.16 0.36 0.23 . rs11247933 COSM5425316;COSM5425315 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.271 0.160 T 0.006 0.126 B 0.017 0.170 B 0.061 0.021 N 1 0.090 P 0.345 0.112 N 3.01 0.096 T -1.58 0.381 N 0.086 0.081 -0.933 0.438 T 0.000 0.000 T . . . -0.206 0.076 1.067 0.724 0.097 0.027 0.073 N c -1.911 -2.018 1.000 0.448 0.598 0.340 0 -7.04 0.014 -1.690 0.020 -0.302 0.080 0.000 0.063 0.000 0.016 3.865 0.085 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000225854.2|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Testis|Thyroid|Thyroid 0.3310 0.1567 0.3943 0.2655 0.2587 0.3793 0.3623 0.3584 0.2568 0.2986 0.1648 0.3807 0.2980 0.2546 0.3615 0.3595 0.3340 het 2150.76 155 1 26691174 . C A 2150.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.664;DP=155;Dels=0.00;FS=13.805;HRun=1;HaplotypeScore=7.4784;MQ=58.50;MQ0=0;MQRankSum=1.870;QD=13.88;ReadPosRankSum=0.009;VQSLOD=2.7802;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,72:155:99:2181,0,2117 1 26691287 26691310 CCACCGAGCGCTGGGGTGCCCCAG - exonic ZNF683 nonframeshift deletion ZNF683:NM_001114759:exon4:c.727_750del:p.L243_W250del,ZNF683:NM_001307925:exon4:c.727_750del:p.L243_W250del,ZNF683:NM_173574:exon4:c.727_750del:p.L243_W250del . . . . . . 0.1017 0.3078 0.0476 0.0439 0.0809 0.0863 0.1012 0.1146 . . . . . rs372936882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0951 0.3106 0.0509 0.0605 0.0421 0.0861 0.0903 0.0831 0.0991 0.1567 0.3126 0.0585 0.0728 0.0557 0.0895 0.1035 0.1012 het 1193.20 45 1 26691286 . CCCACCGAGCGCTGGGGTGCCCCAG C 1193.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.295;DP=45;FS=12.290;HRun=0;HaplotypeScore=762.4881;MQ=53.27;MQ0=0;MQRankSum=-3.252;QD=26.52;ReadPosRankSum=1.409;set=variant2 GT:AD:DP:GQ:PL 0/1:37,8:45:99:1232,0,9038 1 26694245 26694245 T C exonic ZNF683 nonsynonymous SNV ZNF683:NM_001114759:exon3:c.A158G:p.H53R,ZNF683:NM_001307925:exon3:c.A158G:p.H53R,ZNF683:NM_173574:exon3:c.A158G:p.H53R 0.49 0.59 0.32 0.62 0.29 0.57 0.3934 0.5525 0.3699 0.6332 0.3430 0.3084 0.3760 0.5316 0.36 0.52 0.28 0.5 . rs10794531 COSM5463889;COSM5463890 2(large_intestine) . . . . . . . . . . . 0.234 0.180 T 0.004 0.156 B 0.003 0.093 B 0.023 0.265 N 1 0.090 P 0.895 0.225 L 3.26 0.211 T -1.93 0.773 N 0.162 0.207 -0.974 0.364 T 0.000 0.000 T . . . -1.131 0.027 0.009 0.790 0.121 0.011 0.039 N c -1.215 -1.228 0.611 0.218 0.516 0.203 0 -3.22 0.048 -1.209 0.031 -0.892 0.027 0.000 0.063 0.027 0.143 5.429 0.156 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000169442.4|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3599 0.5341 0.3281 0.2615 0.6261 0.3053 0.2848 0.3088 0.5067 0.3837 0.5282 0.3169 0.2616 0.6274 0.3110 0.2986 0.3532 het 168.83 15 1 26694245 . T C 168.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.150;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;MQRankSum=-0.652;QD=11.26;ReadPosRankSum=0.428;VQSLOD=6.4286;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:199,0,156 1 26786627 26786627 G A exonic DHDDS nonsynonymous SNV DHDDS:NM_001243564:exon7:c.G655A:p.V219M,DHDDS:NM_001243565:exon7:c.G640A:p.V214M,DHDDS:NM_001319959:exon8:c.G478A:p.V160M,DHDDS:NM_024887:exon8:c.G757A:p.V253M,DHDDS:NM_205861:exon8:c.G757A:p.V253M 0.46 0.48 0.31 0.71 0.23 0.49 0.3133 0.4537 0.2753 0.7230 0.2493 0.2254 0.3128 0.4181 0.29 0.44 0.21 0.48 0.2 rs3816539 COSM146454 1(stomach);1(thyroid);1(meninges) Benign Retinitis_Pigmentosa\x2c_Recessive RCV000373487.1 MedGen CN239466 . . . . . . 0.116 0.284 T 0.001 0.090 B 0.006 0.112 B 0.143 0.182 N 1 0.090 P 0.55 0.145 N 0.93 0.441 T 0.25 0.048 N 0.028 0.298 -0.970 0.372 T 0.000 0.000 T . . . 1.997 0.301 16.19 0.950 0.253 0.506 0.285 D c -0.564 -0.504 0.086 0.160 0.707 0.730 0 -1.42 0.084 0.739 0.257 -0.720 0.036 0.908 0.314 0.041 0.157 12.092 0.529 Di-trans-poly-cis-decaprenylcistransferase-like\x2c conserved site ENSG00000117682.12|ENSG00000117676.9|ENSG00000117682.12|ENSG00000117682.12|ENSG00000117682.12 Cells_Transformed_fibroblasts|Liver|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3050 0.4527 0.2816 0.2106 0.7281 0.2421 0.2196 0.2712 0.4121 0.3034 0.4526 0.2482 0.2152 0.7121 0.2384 0.1951 0.2714 hom 3115.59 94 1 26786627 . G A 3115.59 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.14;VQSLOD=13.9609;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3149,253,0 1 26879920 26879920 T C exonic RPS6KA1 synonymous SNV RPS6KA1:NM_001006665:exon6:c.T534C:p.A178A,RPS6KA1:NM_001330441:exon6:c.T459C:p.A153A,RPS6KA1:NM_002953:exon7:c.T507C:p.A169A 0.99 0.97 1. 1. 1. 1. 0.9978 0.9755 0.9995 1 0.9995 1.0000 0.9989 0.9999 0.99 0.98 1. 1. 0.97 rs4970490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9764 0.9996 1 1 0.9993 0.9999 1 0.9999 0.9931 0.9759 1 1 1 0.9991 0.9999 1 hom 5711.34 202 1 26879920 . T C 5711.34 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.663;DP=202;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.6333;MQ=58.78;MQ0=0;MQRankSum=1.316;QD=28.27;ReadPosRankSum=1.628;VQSLOD=4.6618;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,201:202:99:5710,448,0 1 26887592 26887592 T C exonic RPS6KA1 synonymous SNV RPS6KA1:NM_001006665:exon15:c.T1425C:p.Y475Y,RPS6KA1:NM_001330441:exon15:c.T1350C:p.Y450Y,RPS6KA1:NM_002953:exon16:c.T1398C:p.Y466Y 0.51 0.51 0.36 0.76 0.29 0.59 0.3793 0.4831 0.4282 0.7558 0.2954 0.2827 0.3722 0.5064 0.33 0.46 0.26 0.54 0.27 rs1064196 COSM4143734;COSM4143733 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3740 0.4926 0.4220 0.2939 0.7629 0.2879 0.2747 0.3358 0.4999 0.3557 0.4900 0.3768 0.2483 0.7488 0.2905 0.2534 0.3227 hom 3095.79 110 1 26887592 . T C 3095.79 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.66;MQ0=0;QD=28.14;VQSLOD=7.7406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3129,250,0 1 27210721 27210721 T C exonic GPN2 nonsynonymous SNV GPN2:NM_018066:exon4:c.A790G:p.R264G 0.87 0.98 0.83 1. 0.63 0.89 0.7320 0.9285 0.8590 0.9985 0.6239 0.6262 0.7241 0.8503 0.72 0.92 0.63 0.87 0.75 rs3170660 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.917 0.273 P -2.11 0.002 N 2.37 0.190 T 6.16 0.000 N 0.104 0.166 -0.920 0.456 T 0.000 0.000 T . . . 1.739 0.270 14.63 0.400 0.028 0.307 0.239 N c -0.598 -0.354 1.000 0.500 0.707 0.730 0 5.48 0.806 5.865 0.691 0.040 0.155 1.000 0.715 0.827 0.345 14.182 0.650 . . . 0.7310 0.9337 0.8410 0.6446 0.9984 0.6323 0.6248 0.7055 0.8485 0.7372 0.9318 0.8103 0.6291 0.9994 0.6097 0.6265 0.6865 het 1029.73 73 1 27210721 . T C 1029.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.323;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7740;MQ=58.47;MQ0=0;MQRankSum=-0.225;QD=14.11;ReadPosRankSum=1.182;VQSLOD=5.6933;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,40:73:99:1060,0,921 1 27332521 27332521 C T exonic FAM46B nonsynonymous SNV FAM46B:NM_052943:exon2:c.G1192A:p.V398I . . . . . . 1.726e-05 0 0 0 0 3.115e-05 0 0 0.0001 . 0.0001 . . rs199549779 . . . . . . . . . . . . . 0.309 0.140 T 0.0 0.026 B 0.001 0.040 B 0.148 0.180 N 1 0.090 N 0 0.065 N 1.93 0.229 T -0.21 0.103 N 0.043 0.023 -1.072 0.089 T 0.035 0.149 T 0.004 0.100 T -1.177 0.026 0.007 0.762 0.110 0.020 0.059 N c -1.320 -1.429 1.000 0.747 0.675 0.547 0 -5.78 0.022 -0.452 0.068 -0.380 0.065 0.000 0.063 0.004 0.083 4.164 0.097 . . . 4.521e-05 0 0 0 0 0 0.0001 0 0 . . . . . . . . het 952.40 71 1 27332521 . C T 952.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.761;DP=71;Dels=0.00;FS=5.836;HRun=0;HaplotypeScore=4.6523;MQ=58.13;MQ0=0;MQRankSum=-0.172;QD=13.41;ReadPosRankSum=-0.489;VQSLOD=3.0529;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,42:71:99:982,0,740 1 27427041 27427041 T C exonic SLC9A1 synonymous SNV SLC9A1:NM_003047:exon12:c.A2205G:p.E735E 0.99 1. 0.98 1. 0.96 1. 0.9694 0.9961 0.9814 1 0.9465 0.9568 0.9626 0.9890 0.97 0.99 0.96 0.99 0.96 rs4418629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9683 0.9957 0.9813 0.9037 1 0.9452 0.9611 0.9564 0.9884 0.9720 0.9939 0.9714 0.8874 1 0.9421 0.9657 0.9611 hom 8838.53 250 1 27427041 . T C 8838.53 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.7415;MQ=59.52;MQ0=0;QD=35.35;VQSLOD=3.6415;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8838,707,0 1 27432505 27432505 G A exonic SLC9A1 synonymous SNV SLC9A1:NM_003047:exon5:c.C1356T:p.I452I 0.0012 0.0008 0.0014 . 0.004 . 0.0027 0.0007 0.0017 0 0.0008 0.0039 0.0034 0.0016 0.0038 0.0009 0.0052 . 0.0082 rs35607809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0005 0.0023 0.0010 0 0.0008 0.0042 0.0033 0.0018 0.0029 0.0007 0 0 0 0 0.0055 0 het 902.97 62 1 27432505 . G A 902.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.856;DP=62;Dels=0.00;FS=2.337;HRun=1;HaplotypeScore=0.7887;MQ=59.63;MQ0=0;MQRankSum=-0.163;QD=14.56;ReadPosRankSum=-0.417;VQSLOD=5.9965;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,34:62:99:933,0,705 1 27676925 27676925 G A exonic SYTL1 synonymous SNV SYTL1:NM_001193308:exon10:c.G954A:p.K318K,SYTL1:NM_032872:exon10:c.G918A:p.K306K 0.24 0.14 0.21 0.18 0.38 0.34 0.3132 0.1630 0.1564 0.1726 0.4081 0.3652 0.3215 0.3428 0.31 0.17 0.38 0.27 0.34 rs6702341 COSM3997465;COSM3997464;COSM3997466 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3121 0.1519 0.1629 0.2740 0.1742 0.4045 0.3759 0.3091 0.3466 0.3083 0.1440 0.1839 0.2167 0.1698 0.4033 0.4029 0.3497 het 2269.45 215 1 27676925 . G A 2269.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.286;DP=215;Dels=0.00;FS=1.691;HRun=2;HaplotypeScore=9.4316;MQ=59.48;MQ0=0;MQRankSum=0.279;QD=10.56;ReadPosRankSum=-0.359;VQSLOD=3.9749;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,90:215:99:2299,0,3224 1 27677409 27677409 G A exonic SYTL1 nonsynonymous SNV SYTL1:NM_001193308:exon11:c.G1130A:p.G377D,SYTL1:NM_032872:exon11:c.G1094A:p.G365D 0.016 0.0015 0.037 . 0.044 0.0072 0.0210 0.0064 0.0154 0 0.0040 0.0318 0.0191 0.0090 0.027 0.007 0.037 0.033 0.016 rs113120872 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.525 0.117 N 1.000 0.090 N -1.415 0.006 N 3.1 0.083 T 1.44 0.008 N 0.035 0.317 -0.944 0.420 T 0.001 0.005 T . . . -0.735 0.043 0.060 0.844 0.147 0.041 0.094 N c -1.490 -1.383 1.000 0.747 0.726 0.872 0 -2.65 0.057 0.584 0.234 0.127 0.214 0.058 0.215 0.987 0.523 6.109 0.192 C2 domain . . 0.0207 0.0049 0.0187 0.0255 5.811e-05 0.0045 0.0323 0.0289 0.0090 0.0173 0.0047 0.0167 0.0232 0 0.0034 0.0290 0.0266 het 974.47 94 1 27677409 . G A 974.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.559;DP=94;Dels=0.00;FS=4.099;HRun=0;HaplotypeScore=2.6448;MQ=59.36;MQ0=0;MQRankSum=-0.027;QD=10.37;ReadPosRankSum=0.606;VQSLOD=5.3047;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,43:94:99:1004,0,1374 1 27679797 27679797 A G exonic SYTL1 nonsynonymous SNV SYTL1:NM_001193308:exon14:c.A1367G:p.Q456R,SYTL1:NM_032872:exon14:c.A1331G:p.Q444R 0.48 0.35 0.43 0.25 0.68 0.73 0.6508 0.4558 0.4485 0.3327 0.7133 0.7138 0.6661 0.7181 0.6 0.41 0.7 0.43 0.53 rs3813795 COSM4143749;COSM4143748 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.003 0.358 N 1 0.090 P -1.195 0.008 N 3.28 0.065 T 2.58 0.002 N 0.085 0.080 -0.999 0.301 T 0.000 0.000 T . . . 0.577 0.149 7.994 0.697 0.088 0.059 0.117 N c -1.111 -0.877 0.992 0.328 0.706 0.609 0 2.68 0.307 1.041 0.297 -0.221 0.097 0.134 0.232 0.996 0.625 4.745 0.123 C2 domain ENSG00000142733.10|ENSG00000174950.6 Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5868 0.3890 0.3474 0.6657 0.2444 0.6598 0.6886 0.6047 0.7042 0.5780 0.3918 0.4296 0.6689 0.2528 0.6597 0.7061 0.6258 hom 653.94 22 1 27679797 . A G 653.94 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.72;VQSLOD=13.2972;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:57.17:687,57,0 1 27679954 27679954 G A exonic SYTL1 synonymous SNV SYTL1:NM_001193308:exon14:c.G1524A:p.G508G,SYTL1:NM_032872:exon14:c.G1488A:p.G496G 0.24 0.12 0.22 0.18 0.37 0.35 0.3509 0.1870 0.2157 0.1983 0.4540 0.3958 0.3567 0.3773 0.29 0.16 0.36 0.23 0.28 rs1128918 COSM3751127;COSM3751128 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3062 0.1477 0.1602 0.3032 0.1645 0.4048 0.3630 0.3035 0.3558 0.3022 0.1423 0.1782 0.2781 0.1588 0.4060 0.3916 0.3432 het 289.09 20 1 27679954 . G A 289.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.579;DP=20;Dels=0.00;FS=7.761;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.810;QD=14.45;ReadPosRankSum=-0.347;VQSLOD=4.0266;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:319,0,224 1 27680292 27680292 A G exonic SYTL1 synonymous SNV SYTL1:NM_001193308:exon15:c.A1638G:p.E546E,SYTL1:NM_032872:exon15:c.A1602G:p.E534E 0.55 0.69 0.48 0.24 0.72 0.53 0.6224 0.6938 0.3426 0.2405 0.6935 0.7219 0.6479 0.5412 0.72 0.69 0.73 0.49 0.67 rs8533 COSM3997468;COSM3997467 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6126 0.6950 0.3700 0.7050 0.2358 0.6839 0.7277 0.6330 0.5466 0.6804 0.6892 0.4581 0.6887 0.2398 0.6819 0.7372 0.6424 hom 2441.33 71 1 27680292 . A G 2441.33 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6963;MQ=59.47;MQ0=0;QD=34.38;VQSLOD=8.3021;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2474,199,0 1 27687466 27687466 G T exonic MAP3K6 nonsynonymous SNV MAP3K6:NM_001297609:exon13:c.C1842A:p.N614K,MAP3K6:NM_004672:exon14:c.C1866A:p.N622K 0.12 0.018 0.16 0.082 0.27 0.13 0.2622 0.0647 0.1470 0.1118 0.3023 0.3407 0.2847 0.1776 0.22 0.057 0.3 0.12 0.21 rs35659744 COSM1559293;COSM1559292 1(large_intestine);7(central_nervous_system) Benign not_specified RCV000455382.1 MedGen CN169374 . . . . . . 0.104 0.299 T 0.003 0.102 B 0.004 0.093 B . . . 1 0.090 P 2.255 0.644 M -0.16 0.654 T -2.55 0.551 D 0.029 0.031 -0.981 0.349 T 0.000 0.000 T . . . 1.018 0.192 10.76 0.966 0.298 0.032 0.080 N c -0.553 -0.610 1.000 0.454 0.651 0.465 0 -0.342 0.120 0.183 0.166 0.048 0.160 0.009 0.180 0.988 0.529 4.454 0.110 . ENSG00000142765.13 Brain_Cerebellum 0.2263 0.0485 0.1393 0.3675 0.0934 0.2480 0.3034 0.2413 0.1509 0.2093 0.0566 0.1659 0.3940 0.0919 0.2476 0.2991 0.2357 het 175.47 25 1 27687466 . G T 175.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.252;DP=25;Dels=0.00;FS=3.960;HRun=2;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=0.204;QD=7.02;ReadPosRankSum=0.786;VQSLOD=5.2759;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,8:25:99:205,0,489 1 27688633 27688633 G A exonic MAP3K6 nonsynonymous SNV MAP3K6:NM_001297609:exon8:c.C1340T:p.T447I,MAP3K6:NM_004672:exon9:c.C1364T:p.T455I 0.31 0.098 0.21 0.54 0.38 0.36 0.3293 0.1464 0.1594 0.5177 0.3976 0.3464 0.3367 0.3658 0.28 0.15 0.35 0.23 0.32 rs1138294 COSM4143756;COSM4143757 1(pancreas);1(thyroid) . . . . . . . . . . . 0.209 0.197 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P 0.49 0.133 N 2.96 0.096 T -1.66 0.397 N 0.11 0.258 -0.927 0.446 T 0.000 0.000 T . . . 1.271 0.217 12.12 0.982 0.391 0.040 0.094 N c -0.852 -0.821 1.000 0.428 0.563 0.310 0 -1.12 0.093 -1.271 0.029 -0.304 0.080 0.000 0.063 0.981 0.494 0.626 0.007 Domain of unknown function DUF4071 . . 0.3257 0.1339 0.1650 0.2246 0.5214 0.3907 0.3545 0.3200 0.3680 0.3080 0.1294 0.1998 0.1767 0.5364 0.3909 0.3747 0.3381 het 563.14 51 1 27688633 . G A 563.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.603;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7381;MQ=59.14;MQ0=0;MQRankSum=-0.388;QD=11.04;ReadPosRankSum=1.070;VQSLOD=6.0684;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,23:51:99:593,0,747 1 27875824 27875824 C T exonic AHDC1 nonsynonymous SNV AHDC1:NM_001029882:exon6:c.G2803A:p.A935T 1. 1. 1. 1. 0.99 1. 0.9956 0.9987 0.9977 1 0.9995 0.9938 0.9967 0.9956 0.99 1. 0.99 1. 0.95 rs4908364 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.390 0.133 N 1 0.090 P 0.55 0.145 N 0.97 0.425 T -0.04 0.076 N 0.036 0.016 -0.955 0.401 T 0.000 0.000 T . . . 2.136 0.318 17.09 0.899 0.186 0.006 0.026 N c -1.303 -1.238 1.000 0.480 0.696 0.567 0 -2.09 0.068 -0.683 0.052 0.090 0.195 0.000 0.063 0.999 0.750 7.470 0.264 . . . 0.9952 0.9989 0.9979 0.9760 1 0.9995 0.9939 0.9956 0.9951 0.9969 0.9987 0.9964 0.9702 1 0.9997 0.9955 0.9959 hom 3170.35 107 1 27875824 . C T 3170.35 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5989;MQ=59.57;MQ0=0;QD=29.63;VQSLOD=7.7819;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3203,259,0 1 28209305 28209305 A G exonic THEMIS2 synonymous SNV THEMIS2:NM_001105556:exon4:c.A1470G:p.L490L,THEMIS2:NM_001286115:exon4:c.A882G:p.L294L,THEMIS2:NM_001286113:exon5:c.A1083G:p.L361L 0.47 0.14 0.51 0.51 0.63 0.69 0.5906 0.2203 0.5304 0.5385 0.6072 0.6315 0.58 0.7083 0.52 0.25 0.65 0.41 0.62 rs3766398 COSM4143769 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5961 0.2103 0.5384 0.6962 0.5453 0.6037 0.6325 0.6026 0.7085 0.5033 0.2151 0.5419 0.7119 0.5519 0.6002 0.6304 0.6002 hom 6234.32 190 1 28209305 . A G 6234.32 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9114;MQ=59.17;MQ0=0;QD=32.81;VQSLOD=8.2991;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:190:99:6234,479,0 1 28209362 28209362 T C exonic THEMIS2 synonymous SNV THEMIS2:NM_001105556:exon4:c.T1527C:p.V509V,THEMIS2:NM_001286115:exon4:c.T939C:p.V313V,THEMIS2:NM_001286113:exon5:c.T1140C:p.V380V 0.47 0.16 0.51 0.5 0.63 0.69 0.5908 0.2283 0.5339 0.5260 0.6071 0.6317 0.5767 0.7083 0.52 0.26 0.65 0.4 0.61 rs3766399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5970 0.2193 0.5420 0.7106 0.5349 0.6036 0.6324 0.6027 0.7087 0.5041 0.2264 0.5397 0.7285 0.5351 0.6003 0.6278 0.5979 hom 5464.26 187 1 28209362 . T C 5464.26 Mask AC=2;AF=1.00;AN=2;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8933;MQ=58.59;MQ0=0;QD=29.22;VQSLOD=8.4538;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,187:187:99:5463,466,0 1 28209366 28209366 A G exonic THEMIS2 nonsynonymous SNV THEMIS2:NM_001105556:exon4:c.A1531G:p.K511E,THEMIS2:NM_001286115:exon4:c.A943G:p.K315E,THEMIS2:NM_001286113:exon5:c.A1144G:p.K382E 0.45 0.071 0.5 0.5 0.63 0.69 0.5829 0.1511 0.5262 0.5262 0.6073 0.6304 0.57 0.7077 0.48 0.15 0.64 0.38 0.61 rs3766400 . . . . . . . . . . . . . 0.532 0.070 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 1.000 0.548 P -2.83 0.000 N 2.66 0.126 T 1.3 0.010 N 0.021 0.366 -0.933 0.438 T 0.000 0.000 T . . . -0.338 0.066 0.542 0.726 0.097 0.103 0.157 N c -0.583 -0.437 1.000 0.747 0.628 0.401 0 4.0 0.455 0.881 0.276 0.076 0.183 0.986 0.359 0.016 0.126 3.223 0.063 CABIT domain ENSG00000130775.11|ENSG00000130775.11|ENSG00000130775.11|ENSG00000117748.5|ENSG00000130775.11 Adipose_Subcutaneous|Esophagus_Mucosa|Lung|Whole_Blood|Whole_Blood 0.5901 0.1412 0.5345 0.6979 0.5348 0.6037 0.6318 0.5985 0.7079 0.4813 0.1478 0.5372 0.7119 0.5357 0.5997 0.6275 0.5921 hom 5769.99 179 1 28209366 . A G 5769.99 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.0534;MQ=58.79;MQ0=0;QD=32.23;VQSLOD=8.6835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5769,454,0 1 28282292 28282292 T C exonic SMPDL3B nonsynonymous SNV SMPDL3B:NM_001009568:exon6:c.T788C:p.V263A,SMPDL3B:NM_001304579:exon6:c.T170C:p.V57A,SMPDL3B:NM_014474:exon6:c.T788C:p.V263A 0.19 0.07 0.26 0.21 0.27 0.18 0.2507 0.1015 0.2423 0.2648 0.3377 0.2800 0.2709 0.1889 0.23 0.11 0.3 0.13 0.24 rs3813803 COSM4143771;COSM4143770 1(thyroid) . . . . . . . . . . . 0.017 0.546 D 0.99 0.629 D 0.716 0.570 P 0.000 0.473 D 0.420 0.323 P 1.925 0.515 L -3.1 0.927 D -2.99 0.634 D 0.314 0.391 -1.516 0.000 T 0.000 0.000 T . . . 4.073 0.547 23.7 0.987 0.451 0.975 0.751 D c 0.464 0.405 1.000 0.747 0.635 0.413 0 5.34 0.759 7.585 0.817 1.061 0.807 1.000 0.715 0.117 0.195 15.291 0.735 Calcineurin-like phosphoesterase domain\x2c apaH type|Metallo-dependent phosphatase-like;Metallo-dependent phosphatase-like . . 0.2553 0.0964 0.2362 0.2369 0.2567 0.3390 0.2857 0.2619 0.1885 0.2409 0.0926 0.2302 0.2384 0.2770 0.3340 0.2999 0.2777 hom 3514.32 106 1 28282292 . T C 3514.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.699;DP=106;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5226;MQ=59.61;MQ0=0;MQRankSum=1.666;QD=33.15;ReadPosRankSum=0.233;VQSLOD=9.5333;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,105:106:99:3514,277,0 1 28800380 28800380 C A exonic PHACTR4 nonsynonymous SNV PHACTR4:NM_023923:exon6:c.C1168A:p.L390I,PHACTR4:NM_001048183:exon7:c.C1138A:p.L380I,PHACTR4:NM_001350158:exon8:c.C1162A:p.L388I,PHACTR4:NM_001350160:exon8:c.C1138A:p.L380I,PHACTR4:NM_001350161:exon8:c.C1090A:p.L364I,PHACTR4:NM_001350159:exon9:c.C1162A:p.L388I 0.23 0.3 0.27 0.07 0.31 0.16 0.2633 0.3140 0.2158 0.0796 0.3243 0.2946 0.2862 0.2104 0.28 0.31 0.27 0.25 0.32 rs61785974 COSM3751132 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.328 0.314 B 0.085 0.279 B 0.795 0.067 N 0.954 0.264 P 2.47 0.719 M 1.84 0.248 T -0.71 0.202 N 0.037 0.017 -0.948 0.414 T 0.000 0.000 T . . . 0.539 0.146 7.720 0.922 0.210 0.545 0.294 D c -0.551 -0.561 0.001 0.083 0.707 0.730 0 3.3 0.368 1.500 0.351 0.837 0.341 0.280 0.249 0.265 0.231 5.478 0.159 . ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000130770.13|ENSG00000204138.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Thyroid|Whole_Blood|Whole_Blood 0.2607 0.3059 0.2216 0.2757 0.0811 0.3200 0.2923 0.2863 0.2149 0.2896 0.3102 0.2524 0.2815 0.0774 0.3090 0.2965 0.3180 het 1852.13 123 1 28800380 . C A 1852.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.592;DP=123;Dels=0.00;FS=11.275;HRun=0;HaplotypeScore=2.0756;MQ=59.47;MQ0=0;MQRankSum=-0.226;QD=15.06;ReadPosRankSum=-0.885;VQSLOD=4.1570;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,66:123:99:1882,0,1606 1 28861636 28861636 G A exonic RCC1 synonymous SNV RCC1:NM_001269:exon5:c.G516A:p.V172V,RCC1:NM_001048194:exon6:c.G609A:p.V203V,RCC1:NM_001048195:exon6:c.G567A:p.V189V,RCC1:NM_001048199:exon7:c.G516A:p.V172V 0.22 0.31 0.25 0.072 0.31 0.16 0.2637 0.2989 0.2183 0.0820 0.3045 0.2968 0.2748 0.2178 0.28 0.3 0.27 0.26 0.36 rs2066726 COSM3751133;COSM3751134 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2610 0.2975 0.2241 0.2845 0.0830 0.3003 0.2946 0.2853 0.2229 0.2837 0.2950 0.2524 0.2914 0.0767 0.2927 0.2973 0.3106 het 1919.67 160 1 28861636 . G A 1919.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.647;DP=160;Dels=0.00;FS=2.132;HRun=0;HaplotypeScore=8.5006;MQ=58.26;MQ0=0;MQRankSum=-0.399;QD=12.00;ReadPosRankSum=0.596;VQSLOD=4.4117;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,83:160:99:1950,0,2012 1 28944528 28944528 C T exonic TAF12 synonymous SNV TAF12:NM_001135218:exon3:c.G183A:p.K61K,TAF12:NM_005644:exon3:c.G183A:p.K61K 0.0006 0.0008 . . 0.002 . 0.0014 0.0006 8.64e-05 0 0.0002 0.0023 0.0011 0 0.0016 0.0009 0.002 . . rs147570760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0003 0.0005 0 0 4.486e-05 0.0027 0.0009 9.787e-05 0.0017 0.0006 0 0 0 0 0.0031 0.0010 het 1992.59 154 1 28944528 . C T 1992.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.585;DP=154;DS;Dels=0.00;FS=1.374;HRun=3;HaplotypeScore=4.9375;MQ=59.45;MQ0=0;MQRankSum=-1.155;QD=12.94;ReadPosRankSum=-0.735;VQSLOD=3.3824;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,76:154:99:2023,0,1871 1 29189597 29189597 C T exonic OPRD1 synonymous SNV OPRD1:NM_000911:exon3:c.C921T:p.G307G 0.58 0.31 0.7 0.75 0.57 0.7 0.5918 0.3612 0.7378 0.7615 0.5932 0.5498 0.5647 0.7005 0.47 0.34 0.54 0.52 0.36 rs2234918 COSM1560682 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5895 0.3315 0.7176 0.4657 0.7676 0.5734 0.5432 0.5719 0.6926 0.5150 0.3330 0.6986 0.4570 0.7728 0.5791 0.5631 0.6031 hom 1188.33 38 1 29189597 . C T 1188.33 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=31.27;VQSLOD=8.8905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1221,102,0 1 29475648 29475648 T G exonic SRSF4 nonsynonymous SNV SRSF4:NM_005626:exon6:c.A759C:p.E253D 0.72 0.72 0.74 0.56 0.88 0.69 0.8179 0.7488 0.7386 0.5665 0.9015 0.8862 0.8238 0.7388 0.85 0.77 0.89 0.75 0.89 rs2230679 COSM3997475 4(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.331 N 1 0.090 P -1.645 0.004 N 2.58 0.134 T 0.03 0.066 N 0.023 0.006 -0.959 0.394 T 0.000 0.000 T . . . -0.776 0.041 0.048 0.717 0.094 0.059 0.117 N c -1.472 -1.383 0.999 0.392 0.707 0.730 0 -3.25 0.047 -1.476 0.024 -0.905 0.026 0.011 0.184 0.901 0.381 1.100 0.016 . . . 0.8198 0.7424 0.7489 0.8917 0.5710 0.9025 0.8890 0.8364 0.7385 0.8324 0.7425 0.7715 0.8874 0.5800 0.9078 0.8954 0.8487 hom 6045.04 183 1 29475648 . T G 6045.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.141;DP=183;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4721;MQ=59.52;MQ0=0;MQRankSum=2.961;QD=33.03;ReadPosRankSum=2.656;VQSLOD=3.0252;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:3,179:183:99:5977,427,0 1 29529699 29529699 T C exonic MECR synonymous SNV MECR:NM_001024732:exon5:c.A369G:p.A123A,MECR:NM_001349717:exon5:c.A447G:p.A149A,MECR:NM_016011:exon5:c.A597G:p.A199A,MECR:NM_001349714:exon6:c.A369G:p.A123A,MECR:NM_001349715:exon6:c.A702G:p.A234A,MECR:NM_001349716:exon6:c.A681G:p.A227A,MECR:NM_001349712:exon7:c.A369G:p.A123A,MECR:NM_001349713:exon7:c.A369G:p.A123A,MECR:NM_001349711:exon8:c.A369G:p.A123A 0.75 0.82 0.75 0.56 0.88 0.69 0.8089 0.8296 0.7316 0.5825 0.8866 0.8749 0.7946 0.7360 0.88 0.85 0.89 0.76 0.74 rs1062924 COSM3930740;COSM1748339 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8137 0.8278 0.7440 0.8889 0.5573 0.8966 0.8834 0.8279 0.7290 0.8575 0.8339 0.7804 0.8833 0.5778 0.9061 0.8942 0.8523 hom 507.97 20 1 29529699 . T C 507.97 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.92;MQ0=0;QD=25.40;VQSLOD=7.0045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:45.11:541,45,0 1 29542637 29542637 A G exonic MECR nonsynonymous SNV MECR:NM_001024732:exon3:c.T58C:p.F20L,MECR:NM_001349717:exon3:c.T136C:p.F46L,MECR:NM_016011:exon3:c.T286C:p.F96L,MECR:NM_001349714:exon4:c.T58C:p.F20L,MECR:NM_001349715:exon4:c.T391C:p.F131L,MECR:NM_001349716:exon4:c.T370C:p.F124L,MECR:NM_001349712:exon5:c.T58C:p.F20L,MECR:NM_001349713:exon5:c.T58C:p.F20L,MECR:NM_001349711:exon6:c.T58C:p.F20L 0.72 0.72 0.73 0.56 0.88 0.69 0.8168 0.7466 0.7374 0.5670 0.8992 0.8849 0.8205 0.7388 0.85 0.77 0.89 0.74 0.9 rs1128400 COSM3997476 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.679 0.044 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.182 P 0.055 0.082 N 1.01 0.411 T 1.33 0.009 N 0.016 0.003 -1.017 0.247 T 0.000 0.000 T . . . 1.453 0.237 13.07 0.678 0.082 0.218 0.213 N c -0.937 -0.758 0.238 0.185 0.732 0.924 0 1.39 0.212 0.049 0.139 0.128 0.215 0.472 0.265 0.963 0.446 4.877 0.129 Alcohol dehydrogenase\x2c N-terminal|GroES-like;Alcohol dehydrogenase\x2c N-terminal|GroES-like|Polyketide synthase\x2c enoylreductase domain . . 0.8190 0.7423 0.7464 0.8898 0.5719 0.9007 0.8884 0.8353 0.7386 0.8315 0.7425 0.7739 0.8841 0.5800 0.9061 0.8938 0.8493 hom 5969.34 184 1 29542637 . A G 5969.34 Mask AC=2;AF=1.00;AN=2;DP=184;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6254;MQ=59.90;MQ0=0;QD=32.44;VQSLOD=9.3347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:184:99:5969,469,0 1 29630455 29630455 C T exonic PTPRU synonymous SNV PTPRU:NM_001195001:exon16:c.C2565T:p.Y855Y,PTPRU:NM_133177:exon16:c.C2565T:p.Y855Y,PTPRU:NM_133178:exon16:c.C2565T:p.Y855Y,PTPRU:NM_005704:exon17:c.C2595T:p.Y865Y 0.38 0.35 0.33 0.64 0.16 0.38 0.2631 0.3246 0.4277 0.6492 0.1888 0.1550 0.2649 0.3710 0.2 0.32 0.14 0.32 0.2 rs2295061 COSM1748344;COSM1748343;COSM1748345 1(haematopoietic_and_lymphoid_tissue);2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2670 0.3217 0.4013 0.2099 0.6480 0.1971 0.1512 0.2420 0.3725 0.2321 0.3142 0.3544 0.2219 0.6360 0.1936 0.1446 0.2092 het 971.04 96 1 29630455 . C T 971.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.945;DP=96;Dels=0.00;FS=0.829;HRun=0;HaplotypeScore=1.7333;MQ=59.57;MQ0=0;MQRankSum=0.072;QD=10.11;ReadPosRankSum=0.148;VQSLOD=6.4467;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,39:96:99:1001,0,1507 1 29631909 29631909 A G exonic PTPRU nonsynonymous SNV PTPRU:NM_001195001:exon18:c.A2789G:p.N930S,PTPRU:NM_133177:exon18:c.A2789G:p.N930S,PTPRU:NM_133178:exon18:c.A2789G:p.N930S,PTPRU:NM_005704:exon19:c.A2819G:p.N940S 0.34 0.22 0.38 0.49 0.24 0.41 0.2945 0.2314 0.4288 0.4782 0.2530 0.2394 0.3018 0.3834 0.23 0.23 0.23 0.27 0.34 rs2235937 COSM3997477;COSM146456;COSM3997478 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.798 0.031 T 0.0 0.026 B 0.0 0.040 B 0.001 0.436 D 0.904 0.276 P -0.47 0.027 N 1.62 0.282 T -0.54 0.166 N 0.012 0.069 -0.902 0.478 T 0.000 0.000 T . . . 0.761 0.166 9.220 0.527 0.047 0.786 0.385 D c -0.577 -0.446 0.804 0.242 0.706 0.609 0 1.77 0.237 1.679 0.370 0.237 0.263 0.133 0.232 0.846 0.353 6.934 0.235 PTP type protein phosphatase|Protein-tyrosine phosphatase-like . . 0.3006 0.2268 0.4126 0.3320 0.4766 0.2542 0.2322 0.3041 0.3870 0.2565 0.2239 0.3711 0.3609 0.4709 0.2524 0.2436 0.2751 het 2093.92 192 1 29631909 . A G 2093.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.188;DP=192;Dels=0.00;FS=5.183;HRun=0;HaplotypeScore=3.8083;MQ=59.57;MQ0=0;MQRankSum=0.922;QD=10.91;ReadPosRankSum=-1.395;VQSLOD=4.8807;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,82:192:99:2124,0,2845 1 29644328 29644328 C T exonic PTPRU synonymous SNV PTPRU:NM_001195001:exon25:c.C3573T:p.R1191R,PTPRU:NM_133178:exon25:c.C3582T:p.R1194R,PTPRU:NM_005704:exon26:c.C3612T:p.R1204R,PTPRU:NM_133177:exon26:c.C3600T:p.R1200R 0.073 0.088 0.053 0.004 0.12 0.093 0.0923 0.0918 0.0473 0.0010 0.1230 0.1029 0.0998 0.1162 0.093 0.09 0.095 0.065 0.098 rs1045453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0924 0.0900 0.0508 0.1593 0.0010 0.1205 0.1011 0.0958 0.1167 0.0935 0.0849 0.0477 0.1523 0 0.1222 0.1022 0.1110 het 1713.53 116 1 29644328 . C T 1713.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.463;DP=116;Dels=0.00;FS=3.595;HRun=0;HaplotypeScore=4.7553;MQ=60.00;MQ0=0;MQRankSum=0.965;QD=14.77;ReadPosRankSum=-0.025;VQSLOD=4.9426;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,64:116:99:1744,0,1264 1 31188089 31188089 C T exonic MATN1 synonymous SNV MATN1:NM_002379:exon6:c.G1275A:p.E425E 0.29 0.26 0.41 0.18 0.36 0.27 0.3253 0.2791 0.4120 0.1700 0.4094 0.3391 0.3135 0.2860 0.32 0.29 0.34 0.3 0.3 rs1065755 COSM4143785 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3322 0.2798 0.4093 0.2764 0.1664 0.4209 0.3424 0.3265 0.2845 0.3310 0.2837 0.3998 0.2649 0.1374 0.4124 0.3562 0.3574 hom 4983.44 160 1 31188089 . C T 4983.44 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6671;MQ=59.51;MQ0=0;QD=31.15;VQSLOD=9.3306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4983,400,0 1 31188901 31188901 A G exonic MATN1 synonymous SNV MATN1:NM_002379:exon5:c.T1062C:p.T354T 0.6 0.84 0.68 0.61 0.47 0.37 0.5111 0.7819 0.7223 0.5979 0.5407 0.4531 0.4714 0.3720 0.56 0.77 0.45 0.65 0.41 rs20566 COSM3997479 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5151 0.7867 0.6986 0.3652 0.5958 0.5463 0.4582 0.4925 0.3708 0.5789 0.7871 0.6842 0.3841 0.5466 0.5492 0.4706 0.5133 hom 5707.34 192 1 31188901 . A G 5707.34 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=59.66;MQ0=0;QD=29.73;VQSLOD=8.4645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:5706,457,0 1 31215364 31215364 T C exonic LAPTM5 synonymous SNV LAPTM5:NM_006762:exon2:c.A120G:p.S40S 0.6 0.62 0.69 0.67 0.53 0.54 0.5520 0.6052 0.7461 0.6951 0.5821 0.4887 0.5466 0.5521 0.52 0.59 0.49 0.63 0.39 rs1050663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5559 0.6031 0.7299 0.4791 0.6941 0.5818 0.4824 0.5440 0.5401 0.5482 0.5980 0.7033 0.4702 0.6698 0.5676 0.4933 0.5644 het 545.76 38 1 31215364 . T C 545.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.138;DP=38;Dels=0.00;FS=7.256;HRun=1;HaplotypeScore=0.0000;MQ=57.38;MQ0=0;MQRankSum=0.990;QD=14.36;ReadPosRankSum=0.103;VQSLOD=4.4133;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:576,0,414 1 31346199 31346199 G A exonic SDC3 synonymous SNV SDC3:NM_014654:exon5:c.C1188T:p.G396G 0.059 0.0045 0.052 0.075 0.11 0.067 0.0905 0.0185 0.0425 0.0782 0.1216 0.1155 0.0741 0.0634 0.084 0.025 0.11 0.076 0.098 rs1539360 COSM5619179;COSM5619178 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0893 0.0170 0.0428 0.0872 0.0788 0.1231 0.1157 0.0920 0.0618 0.0858 0.0207 0.0525 0.0927 0.0921 0.1175 0.1162 0.1043 het 1214.98 100 1 31346199 . G A 1214.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.128;DP=100;Dels=0.00;FS=4.295;HRun=0;HaplotypeScore=4.9589;MQ=59.77;MQ0=0;MQRankSum=-1.679;QD=12.15;ReadPosRankSum=-1.232;VQSLOD=3.6213;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,48:100:99:1245,0,1260 1 31349642 31349642 C T exonic SDC3 synonymous SNV SDC3:NM_014654:exon3:c.G627A:p.R209R 0.015 0.0015 0.033 . 0.043 0.0072 0.0289 0.0071 0.0191 0 0.0269 0.0424 0.02 0.0075 0.029 0.0079 0.04 0.043 0.025 rs41269521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0273 0.0064 0.0198 0.0644 5.903e-05 0.0225 0.0404 0.0354 0.0060 0.0256 0.0068 0.0239 0.0662 0 0.0238 0.0392 0.0255 het 571.10 38 1 31349642 . C T 571.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DP=38;Dels=0.00;FS=14.520;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.547;QD=15.03;ReadPosRankSum=-1.552;VQSLOD=2.8893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:601,0,438 1 31349647 31349647 C T exonic SDC3 nonsynonymous SNV SDC3:NM_014654:exon3:c.G622A:p.V208I 0.076 0.0091 0.1 0.035 0.21 0.054 0.1599 0.0365 0.0764 0.0525 0.1982 0.2178 0.1305 0.0955 0.15 0.042 0.21 0.11 0.074 rs2491132 . . other Obesity\x2c_association_with RCV000013593.17 MedGen C4016383 . . . . . . 0.681 0.044 T 0.002 0.090 B 0.001 0.040 B 0.716 0.100 N 1 0.090 P -0.46 0.027 N 1.99 0.219 T -0.08 0.082 N 0.019 0.005 -0.956 0.399 T 0.000 0.000 T . . . -1.423 0.019 0.003 0.775 0.115 0.022 0.063 N c -1.604 -1.677 1.000 0.747 0.744 0.983 0 -8.71 0.007 -1.922 0.016 -0.265 0.087 0.000 0.063 0.517 0.274 6.035 0.188 . . . 0.1504 0.0320 0.0826 0.1375 0.0497 0.1923 0.2156 0.1656 0.0788 0.1614 0.0383 0.0945 0.1490 0.0573 0.1890 0.2407 0.1848 het 527.90 38 1 31349647 . C T 527.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.090;DP=38;Dels=0.00;FS=14.520;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.345;QD=13.89;ReadPosRankSum=-0.931;VQSLOD=3.5113;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:558,0,372 1 31351513 31351513 G A exonic SDC3 synonymous SNV SDC3:NM_014654:exon2:c.C213T:p.P71P 0.18 0.029 0.28 0.11 0.3 0.25 0.2595 0.0697 0.3001 0.1210 0.3756 0.2918 0.2489 0.2468 0.21 0.076 0.28 0.15 0.19 rs1891419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2656 0.0656 0.3024 0.1941 0.1230 0.3837 0.2923 0.2600 0.2463 0.2367 0.0677 0.3074 0.1954 0.1381 0.3865 0.3029 0.3125 het 1889.81 158 1 31351513 . G A 1889.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.731;DP=158;Dels=0.00;FS=2.020;HRun=0;HaplotypeScore=7.7870;MQ=59.14;MQ0=0;MQRankSum=2.775;QD=11.96;ReadPosRankSum=0.740;VQSLOD=3.8305;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,74:158:99:1920,0,2100 1 31898234 31898234 T C exonic SERINC2 synonymous SNV SERINC2:NM_001199037:exon4:c.T462C:p.I154I,SERINC2:NM_018565:exon4:c.T462C:p.I154I,SERINC2:NM_178865:exon4:c.T450C:p.I150I,SERINC2:NM_001199038:exon5:c.T477C:p.I159I,SERINC2:NM_001199039:exon5:c.T285C:p.I95I 0.35 0.15 0.45 0.36 0.56 0.33 0.4862 0.2094 0.4537 0.3402 0.5222 0.5803 0.5033 0.3646 0.45 0.23 0.57 0.35 0.5 rs4949402 COSM3997481 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4918 0.2059 0.4660 0.5663 0.3486 0.5347 0.5790 0.5175 0.3662 0.4558 0.2052 0.4714 0.5563 0.3618 0.5355 0.5855 0.5276 hom 4556.59 140 1 31898234 . T C 4556.59 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.1557;MQ=59.19;MQ0=0;QD=32.55;VQSLOD=9.9667;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:140:99:4556,355,0 1 31898687 31898687 C T exonic SERINC2 synonymous SNV SERINC2:NM_001199037:exon5:c.C549T:p.I183I,SERINC2:NM_018565:exon5:c.C549T:p.I183I,SERINC2:NM_178865:exon5:c.C537T:p.I179I,SERINC2:NM_001199038:exon6:c.C564T:p.I188I,SERINC2:NM_001199039:exon6:c.C372T:p.I124I 0.061 . 0.16 0.086 0.034 0.072 0.0607 0.0078 0.2034 0.0916 0.0540 0.0366 0.0608 0.0777 0.028 0.01 0.037 0.033 0.0082 rs2275434 COSM3751137;COSM5827849 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0670 0.0079 0.1964 0.0382 0.0936 0.0558 0.0349 0.0587 0.0758 0.0399 0.0080 0.1818 0.0233 0.1025 0.0590 0.0387 0.0531 het 3832.99 197 1 31898687 . C T 3832.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.336;DP=197;DS;Dels=0.00;FS=0.900;HRun=1;HaplotypeScore=6.8194;MQ=59.55;MQ0=0;MQRankSum=0.688;QD=19.46;ReadPosRankSum=-1.528;VQSLOD=2.8977;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,108:197:99:3275,0,2130 1 32084904 32084904 C T exonic HCRTR1 synonymous SNV HCRTR1:NM_001525:exon3:c.C111T:p.R37R 0.35 0.079 0.47 0.24 0.56 0.55 0.4903 0.1434 0.4871 0.2471 0.5634 0.5534 0.5231 0.5526 0.42 0.16 0.55 0.34 0.43 rs1056526 COSM3746932;COSM3746931 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4960 0.1364 0.4846 0.5627 0.2524 0.5626 0.5508 0.5082 0.5531 0.4147 0.1344 0.5095 0.5828 0.2438 0.5622 0.5445 0.5501 hom 7609.26 248 1 32084904 . C T 7609.26 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5191;MQ=59.66;MQ0=0;QD=30.68;VQSLOD=8.8001;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7608,623,0 1 32092525 32092525 A G exonic HCRTR1 nonsynonymous SNV HCRTR1:NM_001525:exon9:c.A1222G:p.I408V 0.44 0.28 0.51 0.24 0.63 0.62 0.5567 0.3071 0.5162 0.2475 0.6287 0.6177 0.6093 0.6253 0.51 0.31 0.61 0.49 0.51 rs2271933 COSM1341730 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.418 N 1 0.588 P -1.43 0.006 N 0.31 0.586 T 0.09 0.059 N 0.111 0.120 -0.925 0.449 T 0.000 0.000 T . . . -0.075 0.087 1.920 0.719 0.095 0.037 0.089 N c -0.896 -0.657 1.000 0.517 0.498 0.195 0 3.78 0.425 1.840 0.386 -0.243 0.092 0.982 0.353 0.984 0.507 8.216 0.305 . ENSG00000162517.8|ENSG00000162517.8 Artery_Aorta|Artery_Tibial 0.5579 0.2951 0.5172 0.6081 0.2514 0.6246 0.6164 0.5745 0.6257 0.4986 0.2914 0.5420 0.6291 0.2383 0.6138 0.6078 0.6137 hom 7137.03 239 1 32092525 . A G 7137.03 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.482;DP=239;DS;Dels=0.00;FS=2.963;HRun=0;HaplotypeScore=6.3487;MQ=59.24;MQ0=0;MQRankSum=1.880;QD=29.86;ReadPosRankSum=0.906;VQSLOD=3.8911;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,237:239:99:7064,521,0 1 32096265 32096265 A G exonic PEF1 synonymous SNV PEF1:NM_012392:exon5:c.T804C:p.I268I 0.36 0.079 0.47 0.25 0.57 0.54 0.4955 0.1451 0.4911 0.2567 0.5675 0.5596 0.5310 0.5549 0.43 0.17 0.56 0.34 0.5 rs1061770 COSM3746933 1(breast);1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5011 0.1376 0.4889 0.5744 0.2628 0.5646 0.5571 0.5137 0.5545 0.4199 0.1351 0.5167 0.5960 0.2519 0.5633 0.5527 0.5530 hom 2628.77 84 1 32096265 . A G 2628.77 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.41;MQ0=0;QD=31.29;VQSLOD=8.5047;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2662,205,0 1 32148571 32148571 A G exonic COL16A1 synonymous SNV COL16A1:NM_001856:exon37:c.T2502C:p.P834P 1. 1. 1. 1. 1. 1. 0.9998 0.9971 0.9999 1 1 1 1 1 1. 1. 1. 1. 0.98 rs10737358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9972 0.9999 1 1 1 1.0000 0.9996 1 0.9992 0.9972 1 1 1 1 1 1 hom 2087.55 66 1 32148571 . A G 2087.55 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.627;DP=66;Dels=0.00;FS=5.891;HRun=2;HaplotypeScore=3.9871;MQ=59.30;MQ0=0;MQRankSum=1.627;QD=31.63;ReadPosRankSum=1.102;VQSLOD=3.5154;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,65:66:99:2121,142,0 1 32158076 32158076 T C exonic COL16A1 nonsynonymous SNV COL16A1:NM_001856:exon16:c.A1193G:p.K398R 0.0028 . 0.0086 . 0.007 0.001 0.0051 0.0017 0.0034 0 0.0003 0.0081 0.0081 0.0007 0.0066 0.002 0.0087 0.033 0.0082 rs115606583 . . . . . . . . . . . . . 0.128 0.269 T 1.0 0.899 D 1.0 0.971 D 0.000 0.486 D 1 0.810 D 1.115 0.288 L -3.76 0.956 D -0.56 0.389 N 0.212 0.275 0.360 0.885 D 0.740 0.911 D 0.241 0.888 D 1.560 0.249 13.63 0.993 0.577 0.546 0.294 D c 0.148 0.157 1.000 0.451 0.615 0.352 0 4.53 0.548 1.171 0.313 1.061 0.807 1.000 0.715 0.995 0.604 8.593 0.327 . . . 0.0053 0.0012 0.0038 0.0287 0 0.0003 0.0073 0.0062 0.0009 0.0033 0.0010 0.0048 0.0298 0 0.0006 0.0051 0.0020 het 820.80 60 1 32158076 . T C 820.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.022;DP=60;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=58.84;MQ0=0;MQRankSum=0.244;QD=13.68;ReadPosRankSum=0.215;VQSLOD=5.9749;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,32:60:99:851,0,753 1 32158374 32158374 T C exonic COL16A1 synonymous SNV COL16A1:NM_001856:exon14:c.A1107G:p.P369P 0.63 0.77 0.68 0.36 0.65 0.67 0.6330 0.7338 0.6053 0.3207 0.6485 0.6489 0.65 0.6839 0.67 0.73 0.64 0.64 0.59 rs3818788 COSM3746934;COSM3746935 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6256 0.7382 0.6056 0.5675 0.3250 0.6495 0.6462 0.6434 0.6836 0.6585 0.7232 0.6337 0.5828 0.3185 0.6575 0.6588 0.6918 hom 1964.32 70 1 32158374 . T C 1964.32 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.67;MQ0=0;QD=28.06;VQSLOD=7.6522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:1997,159,0 1 32164206 32164206 T G exonic COL16A1 synonymous SNV COL16A1:NM_001856:exon5:c.A268C:p.R90R 0.63 0.82 0.66 0.35 0.65 0.6 0.6289 0.7889 0.5856 0.3230 0.6439 0.6548 0.6371 0.6128 0.7 0.79 0.65 0.61 0.59 rs2228550 COSM3746937;COSM3746936 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6200 0.7904 0.5878 0.5754 0.3240 0.6459 0.6525 0.6394 0.6104 0.6771 0.7758 0.6319 0.5795 0.3176 0.6556 0.6668 0.6944 hom 1546.60 50 1 32164206 . T G 1546.60 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;QD=30.93;VQSLOD=8.1202;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1580,126,0 1 32165495 32165495 G T exonic COL16A1 nonsynonymous SNV COL16A1:NM_001856:exon4:c.C185A:p.T62K 0.43 0.26 0.46 0.27 0.65 0.57 0.5629 0.3047 0.4545 0.2643 0.6400 0.6430 0.5933 0.5917 0.54 0.35 0.63 0.42 0.57 rs2228552 . . . . . . . . . . . . . 0.032 0.446 D 0.969 0.548 D 0.473 0.450 P 0.689 0.102 N 1 0.090 P 2.42 0.702 M 1.85 0.245 T -0.68 0.195 N 0.094 0.118 -0.969 0.375 T 0.000 0.000 T . . . 0.204 0.113 4.717 0.896 0.184 0.063 0.121 N c -1.314 -1.390 1.000 0.747 0.615 0.372 0 -2.4 0.062 -0.481 0.066 -1.931 0.005 0.000 0.063 0.723 0.315 8.052 0.296 Laminin G domain ENSG00000084636.13 Thyroid 0.5591 0.3013 0.4602 0.5662 0.2673 0.6412 0.6413 0.5905 0.5933 0.5276 0.2885 0.5167 0.5662 0.2716 0.6521 0.6570 0.6571 hom 3377.56 106 1 32165495 . G T 3377.56 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=58.15;MQ0=0;QD=31.86;VQSLOD=8.2309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3377,259,0 1 32193647 32193647 T C exonic ADGRB2 synonymous SNV ADGRB2:NM_001294336:exon31:c.A4449G:p.A1483A,ADGRB2:NM_001294335:exon32:c.A4548G:p.A1516A 0.6 0.83 0.52 0.35 0.65 0.57 0.6758 0.8094 0.6000 0.4432 0.6922 0.6978 0.6389 0.6393 0.7 0.8 0.65 0.63 0.17 rs1127100 COSM3751138 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5980 0.7966 0.4903 0.5684 0.3207 0.6404 0.6456 0.6151 0.6095 0.6775 0.7876 0.5513 0.5762 0.3232 0.6552 0.6657 0.6872 hom 455.42 16 1 32193647 . T C 455.42 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=28.46;VQSLOD=7.8517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:488,39,0 1 32196647 32196647 C G exonic ADGRB2 synonymous SNV ADGRB2:NM_001294336:exon28:c.G4035C:p.P1345P,ADGRB2:NM_001294335:exon29:c.G4134C:p.P1378P 0.39 0.76 0.26 0.23 0.16 0.36 0.3280 0.6924 0.3511 0.2891 0.3134 0.2284 0.3120 0.4573 0.3 0.58 0.16 0.41 0.049 rs909001 COSM3751139 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2590 0.6781 0.2713 0.1582 0.2279 0.2357 0.1778 0.2251 0.3913 0.3315 0.6694 0.2799 0.1367 0.2309 0.2334 0.1800 0.2724 het 218.93 17 1 32196647 . C G 218.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DP=17;Dels=0.00;FS=6.726;HRun=2;HaplotypeScore=1.7719;MQ=60.00;MQ0=0;MQRankSum=-1.876;QD=12.88;ReadPosRankSum=1.010;VQSLOD=3.3409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:249,0,205 1 32207720 32207720 G A exonic ADGRB2 nonsynonymous SNV ADGRB2:NM_001294335:exon8:c.C1351T:p.P451S,ADGRB2:NM_001294336:exon8:c.C1351T:p.P451S . . . . . . 0.0002 0.0003 0 0 0 0.0002 0 0 0.0005 0.0005 0.0005 . . rs139751061 . . . . . . . . . . . . . 0.513 0.398 T 0.058 0.320 B 0.18 0.372 B 0.002 0.384 N 0.980 0.396 D 1.93 0.516 L 0.77 0.496 T -1.03 0.344 N 0.308 0.405 -0.901 0.480 T 0.146 0.471 T 0.015 0.351 T 3.185 0.442 22.7 0.991 0.519 0.915 0.534 D c -0.005 0.098 1.000 0.747 0.718 0.821 0 4.1 0.470 2.263 0.427 1.048 0.713 0.996 0.391 0.959 0.439 15.639 0.766 . . . 0.0002 0.0003 0 0 0 0 0.0005 0 0 0.0003 0.0002 0 0 0 0.0003 0.0003 0 het 654.17 56 1 32207720 . G A 654.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.686;DP=56;Dels=0.00;FS=1.451;HRun=0;HaplotypeScore=2.9141;MQ=57.83;MQ0=0;MQRankSum=1.363;QD=11.68;ReadPosRankSum=1.304;VQSLOD=3.3082;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,28:56:99:684,0,651 1 32221913 32221913 G A exonic ADGRB2 synonymous SNV ADGRB2:NM_001294335:exon4:c.C525T:p.P175P,ADGRB2:NM_001294336:exon4:c.C525T:p.P175P 0.14 0.033 0.17 0.11 0.11 0.3 0.1632 0.0461 0.2224 0.1232 0.1792 0.1319 0.1551 0.3236 0.1 0.046 0.13 0.054 0.11 rs4949223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1650 0.0393 0.2102 0.1279 0.1287 0.1772 0.1299 0.1481 0.3235 0.1176 0.0416 0.2136 0.1060 0.1278 0.1822 0.1368 0.1741 het 1331.85 86 1 32221913 . G A 1331.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.937;DP=86;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=1.4538;MQ=59.30;MQ0=0;MQRankSum=0.416;QD=15.49;ReadPosRankSum=1.711;VQSLOD=5.7753;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,50:86:99:1362,0,834 1 32279629 32279629 G A exonic SPOCD1 nonsynonymous SNV SPOCD1:NM_001281987:exon2:c.C1306T:p.R436W,SPOCD1:NM_144569:exon2:c.C1306T:p.R436W 0.35 0.19 0.5 0.42 0.44 0.28 0.4068 0.2171 0.4969 0.4407 0.4703 0.4475 0.3795 0.2534 0.37 0.22 0.44 0.38 0.43 rs6669563 COSM146457 1(stomach);1(urinary_tract);1(meninges) . . . . . . . . . . . 0.103 0.303 T 0.825 0.439 P 0.237 0.368 B . . . 1 0.090 P 0.345 0.112 N 1.84 0.247 T -0.46 0.150 N 0.029 0.138 -0.929 0.443 T 0.000 0.000 T . . . 2.740 0.390 21.0 0.968 0.306 0.028 0.074 N c -0.813 -0.933 0.756 0.234 0.476 0.093 0 0.152 0.141 0.055 0.140 0.040 0.155 0.000 0.063 0.001 0.043 3.809 0.082 . . . 0.4141 0.2097 0.4958 0.4902 0.4359 0.4667 0.4424 0.4252 0.2474 0.3786 0.2103 0.4773 0.4437 0.4531 0.4722 0.4369 0.4264 het 1587.34 110 1 32279629 . G A 1587.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.019;DP=110;Dels=0.00;FS=13.993;HRun=0;HaplotypeScore=2.8857;MQ=59.34;MQ0=0;MQRankSum=-0.302;QD=14.43;ReadPosRankSum=1.294;VQSLOD=3.6773;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,54:110:99:1617,0,1456 1 32280610 32280610 T C exonic SPOCD1 nonsynonymous SNV SPOCD1:NM_001281987:exon2:c.A325G:p.T109A,SPOCD1:NM_144569:exon2:c.A325G:p.T109A 0.69 0.64 0.67 0.72 0.67 0.75 0.6822 0.6373 0.6319 0.7016 0.6655 0.6900 0.6574 0.7118 0.67 0.64 0.69 0.67 0.64 rs6664445 COSM4143799 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.695 0.019 N 2.2 0.187 T 1.15 0.012 N 0.018 0.003 -0.938 0.429 T 0.000 0.000 T . . . -1.922 0.009 0.001 0.147 0.003 0.000 0.002 N c -1.345 -1.321 0.993 0.331 0.476 0.093 0 2.32 0.278 0.370 0.200 -0.019 0.130 0.008 0.178 0.003 0.074 4.638 0.118 . ENSG00000134668.8|ENSG00000134668.8 Esophagus_Mucosa|Thyroid 0.6796 0.6329 0.6381 0.7100 0.6989 0.6699 0.6870 0.6755 0.7081 0.6657 0.6380 0.6313 0.6788 0.7198 0.6696 0.6769 0.6619 het 1811.28 115 1 32280610 . T C 1811.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.650;DP=115;Dels=0.00;FS=8.052;HRun=0;HaplotypeScore=2.7520;MQ=59.40;MQ0=0;MQRankSum=1.525;QD=15.75;ReadPosRankSum=-0.607;VQSLOD=4.4521;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,59:115:99:1841,0,1417 1 32557486 32557486 A G exonic TMEM39B synonymous SNV TMEM39B:NM_001319678:exon4:c.A204G:p.S68S,TMEM39B:NM_001319679:exon4:c.A204G:p.S68S,TMEM39B:NM_001319677:exon6:c.A420G:p.S140S,TMEM39B:NM_018056:exon6:c.A801G:p.S267S 0.22 0.29 0.23 0.24 0.06 0.28 0.1241 0.2699 0.1482 0.2426 0.0951 0.0589 0.1007 0.2298 0.13 0.27 0.065 0.21 0.082 rs744455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1234 0.2693 0.1406 0.0673 0.2497 0.1026 0.0594 0.0957 0.2313 0.1418 0.2612 0.1325 0.0629 0.2668 0.0950 0.0740 0.1110 het 1091.44 91 1 32557486 . A G 1091.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.833;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8911;MQ=58.82;MQ0=0;MQRankSum=0.420;QD=11.99;ReadPosRankSum=-1.108;VQSLOD=5.1707;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,45:91:99:1121,0,1157 1 32672908 32672908 T G exonic IQCC nonsynonymous SNV IQCC:NM_001160042:exon5:c.T866G:p.F289C,IQCC:NM_018134:exon5:c.T626G:p.F209C 0.23 0.31 0.24 0.23 0.057 0.29 0.1264 0.2939 0.1484 0.2398 0.0939 0.0593 0.1060 0.2315 0.14 0.29 0.065 0.22 0.082 rs3903683 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.091 0.204 N 1 0.090 P -1.495 0.005 N 3.11 0.082 T 5.57 0.000 N 0.068 0.055 -0.929 0.443 T 0.000 0.000 T . . . -1.398 0.019 0.003 0.576 0.057 0.001 0.008 N c -1.443 -1.376 1.000 0.429 0.660 0.495 0 2.32 0.278 1.092 0.303 -0.027 0.127 0.014 0.188 0.017 0.128 2.932 0.054 . ENSG00000220785.3|ENSG00000084652.11|ENSG00000220785.3|ENSG00000025800.9|ENSG00000220785.3 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Whole_Blood 0.1249 0.2913 0.1419 0.0676 0.2450 0.1014 0.0598 0.0955 0.2328 0.1469 0.2808 0.1348 0.0629 0.2602 0.0933 0.0743 0.1063 het 1204.87 96 1 32672908 . T G 1204.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.644;DP=96;Dels=0.00;FS=1.799;HRun=0;HaplotypeScore=0.8941;MQ=59.61;MQ0=0;MQRankSum=-1.165;QD=12.55;ReadPosRankSum=-0.996;VQSLOD=6.2838;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,44:96:99:1235,0,1315 1 32674927 32674927 T C exonic DCDC2B nonsynonymous SNV DCDC2B:NM_001099434:exon1:c.T233C:p.V78A 0.0014 . 0.0029 . 0.005 . 0.0053 0.0014 0.0061 0 0.0129 0.0068 0.0045 0.0006 0.0058 0.0012 0.0081 . . rs144804850 . . . . . . . . . . . . . 0.004 0.654 D 1.0 0.899 D 1.0 0.971 D . . . 1.000 0.494 D 3.43 0.922 M -4.22 0.970 D -3.73 0.709 D 0.861 0.848 0.919 0.960 D 0.936 0.979 D . . . 5.475 0.743 26.2 0.999 0.947 0.943 0.603 D c 0.825 0.759 1.000 0.747 0.421 0.056 0 5.16 0.704 7.580 0.817 0.964 0.580 1.000 0.715 1.000 0.888 14.958 0.707 Doublecortin domain . . 0.0058 0.0011 0.0050 0.0003 0 0.0161 0.0074 0.0057 0.0011 0.0063 0.0015 0.0060 0 0 0.0163 0.0074 0.0102 het 1594.20 134 1 32674927 . T C 1594.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=134;Dels=0.00;FS=0.665;HRun=0;HaplotypeScore=4.7569;MQ=59.38;MQ0=0;MQRankSum=-0.428;QD=11.90;ReadPosRankSum=0.694;VQSLOD=3.9707;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,66:134:99:1624,0,1598 1 32842319 32842319 T C exonic BSDC1 nonsynonymous SNV BSDC1:NM_001143890:exon7:c.A415G:p.I139V,BSDC1:NM_001143889:exon8:c.A532G:p.I178V,BSDC1:NM_001143888:exon9:c.A751G:p.I251V,BSDC1:NM_001300958:exon9:c.A751G:p.I251V,BSDC1:NM_018045:exon9:c.A700G:p.I234V 0.0084 0.0008 0.0058 . 0.033 0.0041 0.0243 0.0044 0.0114 0.0001 0.0496 0.0330 0.0232 0.0050 0.027 0.0066 0.037 0.011 0.098 rs34885668 . . . . . . . . . . . . . 0.614 0.173 T 0.001 0.131 B 0.007 0.179 B 0.251 0.155 N 1 0.090 N 0 0.065 N 1.0 0.414 T 0.08 0.060 N 0.013 0.069 -1.050 0.144 T 0.012 0.045 T . . . -0.734 0.043 0.060 0.702 0.089 0.384 0.257 N c -0.954 -0.840 0.074 0.157 0.707 0.730 0 0.721 0.173 -0.144 0.102 -1.191 0.016 0.665 0.281 0.922 0.397 4.765 0.124 BSD domain . . 0.0252 0.0040 0.0110 0.0219 0.0002 0.0574 0.0321 0.0247 0.0061 0.0285 0.0039 0.0119 0.0099 0 0.0559 0.0405 0.0346 het 470.26 66 1 32842319 . T C 470.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.883;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6775;MQ=59.08;MQ0=0;MQRankSum=1.410;QD=7.13;ReadPosRankSum=-0.229;VQSLOD=5.4969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,22:66:99:500,0,1192 1 33065947 33065947 G C exonic ZBTB8A nonsynonymous SNV ZBTB8A:NM_001040441:exon5:c.G1253C:p.G418A 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs704886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 3488.57 109 1 33065947 . G C 3488.57 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8184;MQ=59.43;MQ0=0;QD=32.01;VQSLOD=7.7755;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3488,262,0 1 33133968 33133968 T C exonic RBBP4 synonymous SNV RBBP4:NM_001135255:exon4:c.T450C:p.V150V,RBBP4:NM_001135256:exon4:c.T348C:p.V116V,RBBP4:NM_005610:exon4:c.T453C:p.V151V 0.97 0.89 0.98 1. 1. 1. 0.9913 0.9064 0.9959 1 1 0.9997 0.9923 1 0.97 0.91 1. 0.98 0.98 rs2762904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9932 0.9059 0.9953 0.9994 1 1 0.9997 0.9927 1.0000 0.9729 0.9055 0.9916 1 1 1 0.9998 0.9939 hom 3311.37 109 1 33133968 . T C 3311.37 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=30.38;VQSLOD=9.3293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3311,250,0 1 33235626 33235626 G A exonic KIAA1522 synonymous SNV KIAA1522:NM_001198972:exon6:c.G669A:p.A223A,KIAA1522:NM_020888:exon6:c.G846A:p.A282A 0.31 0.033 0.44 0.45 0.36 0.38 0.3680 0.0960 0.4557 0.4686 0.3562 0.3734 0.3414 0.3879 0.27 0.1 0.35 0.28 0.21 rs3737995 COSM3751145;COSM3751144 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3629 0.0877 0.4470 0.3032 0.4634 0.3493 0.3693 0.3540 0.3593 0.2811 0.0950 0.4057 0.2881 0.4364 0.3407 0.3480 0.3378 hom 2249.77 69 1 33235626 . G A 2249.77 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=32.61;VQSLOD=9.0045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2283,181,0 1 33236255 33236255 G A exonic KIAA1522 nonsynonymous SNV KIAA1522:NM_001198972:exon6:c.G1298A:p.R433H,KIAA1522:NM_020888:exon6:c.G1475A:p.R492H 0.0014 . . . 0.004 0.0031 0.0030 0.0002 0.0005 0 0.0115 0.0039 0.0015 0.0005 0.0022 0.0002 0.0032 . 0.025 rs116386430 . . . . . . . . . . . . . 0.017 0.512 D 0.956 0.527 P 0.301 0.393 B 0.000 0.629 D 1 0.810 D 2.095 0.583 M 2.52 0.142 T -2.64 0.606 D 0.688 0.694 -1.043 0.165 T 0.033 0.142 T . . . 3.463 0.474 23.0 0.998 0.840 0.468 0.276 N c 0.188 0.178 1.000 0.747 0.563 0.310 0 3.62 0.405 2.830 0.476 0.953 0.551 0.914 0.315 0.109 0.192 12.297 0.540 . . . 0.0031 0.0002 0.0009 0 0 0.0109 0.0038 0.0020 0.0004 0.0045 0.0006 0.0012 0 0 0.0109 0.0060 0.0071 het 401.64 39 1 33236255 . G A 401.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.724;DP=39;Dels=0.00;FS=1.293;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.050;QD=10.30;ReadPosRankSum=2.144;VQSLOD=4.5379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,16:39:99:432,0,630 1 33820033 33820033 C T exonic PHC2 synonymous SNV PHC2:NM_001330488:exon7:c.G1440A:p.T480T,PHC2:NM_198040:exon8:c.G1524A:p.T508T 0.12 0.0083 0.072 0.29 0.12 0.11 0.1165 0.0267 0.0803 0.2559 0.1537 0.1214 0.1170 0.0902 0.088 0.028 0.12 0.065 0.11 rs16835408 COSM3751150 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1176 0.0244 0.0813 0.0966 0.2622 0.1543 0.1217 0.1087 0.0898 0.1084 0.0222 0.0839 0.0695 0.2932 0.1615 0.1274 0.1263 het 983.62 100 1 33820033 . C T 983.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.834;DP=100;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=3.5116;MQ=58.26;MQ0=0;MQRankSum=1.794;QD=9.84;ReadPosRankSum=0.442;VQSLOD=5.4803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,41:100:99:1014,0,1481 1 33832865 33832865 A G exonic PHC2 synonymous SNV PHC2:NM_001330488:exon5:c.T741C:p.P247P,PHC2:NM_198040:exon6:c.T828C:p.P276P 0.73 0.88 0.49 0.77 0.63 0.74 0.6850 0.8703 0.4839 0.7781 0.6663 0.6666 0.6652 0.7437 0.73 0.85 0.67 0.8 0.7 rs6425816 COSM4143830 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6730 0.8731 0.4918 0.6975 0.7749 0.6753 0.6634 0.6548 0.7425 0.7209 0.8681 0.5155 0.6556 0.7803 0.6676 0.6603 0.6224 het 1397.13 112 1 33832865 . A G 1397.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.915;DP=112;Dels=0.00;FS=19.218;HRun=4;HaplotypeScore=0.8321;MQ=59.79;MQ0=0;MQRankSum=0.280;QD=12.47;ReadPosRankSum=0.811;VQSLOD=3.3906;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1427,0,1615 1 33957152 33957152 T G exonic ZSCAN20 nonsynonymous SNV ZSCAN20:NM_145238:exon6:c.T1294G:p.Y432D 1. 1. 1. 1. 1. 1. 0.9944 0.9995 0.9996 1 0.9763 0.9925 0.9922 1 1. 1. 1. 1. 1. rs4403594 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.192 P -2.915 0.000 N 3.45 0.053 T 2.43 0.003 N 0.061 0.354 -0.966 0.381 T 0.000 0.000 T . . . 0.843 0.174 9.728 0.499 0.042 0.060 0.118 N c -0.867 -0.526 0.769 0.236 0.372 0.050 0 5.61 0.853 2.362 0.436 0.136 0.221 0.987 0.361 0.285 0.234 14.205 0.651 SANT/Myb domain . . 0.9948 0.9994 0.9995 1 1 0.9781 0.9935 0.9956 1 0.9940 0.9990 1 1 1 0.9768 0.9940 0.9939 hom 3117.55 93 1 33957152 . T G 3117.55 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8255;MQ=60.00;MQ0=0;QD=33.52;VQSLOD=8.9893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3151,247,0 1 33960062 33960062 A G exonic ZSCAN20 synonymous SNV ZSCAN20:NM_145238:exon8:c.A2118G:p.A706A 0.75 0.85 0.62 0.74 0.74 0.74 0.7443 0.8250 0.5276 0.7444 0.6947 0.7790 0.7257 0.7288 0.81 0.84 0.79 0.81 0.72 rs9943259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7317 0.8264 0.5495 0.6810 0.7446 0.6994 0.7853 0.7272 0.7224 0.7769 0.8318 0.6002 0.6954 0.7308 0.6975 0.7805 0.7694 hom 5605.23 179 1 33960062 . A G 5605.23 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1814;MQ=58.55;MQ0=0;QD=31.31;VQSLOD=8.1221;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5604,451,0 1 34038214 34038214 T C exonic CSMD2 nonsynonymous SNV CSMD2:NM_001281956:exon50:c.A7654G:p.M2552V,CSMD2:NM_052896:exon51:c.A7660G:p.M2554V 0.51 0.54 0.65 0.41 0.49 0.48 0.4996 0.5201 0.7271 0.3764 0.5 0.4729 0.4747 0.5009 0.48 0.52 0.47 0.5 0.51 rs2641962 COSM3751157;COSM3751158 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.672 0.045 T 0.0 0.026 B 0.001 0.040 B 0.036 0.245 N 1 0.090 P -1.77 0.003 N -0.0 0.626 T 1.14 0.012 N 0.017 0.004 -0.933 0.437 T 0.000 0.000 T . . . -1.909 0.009 0.002 0.325 0.019 0.033 0.082 N c -1.620 -1.403 0.421 0.203 0.615 0.372 0 1.67 0.230 0.298 0.187 -1.712 0.008 0.118 0.229 0.573 0.284 6.160 0.194 Sushi/SCR/CCP domain ENSG00000121904.13 Thyroid 0.5091 0.5214 0.7102 0.6208 0.3778 0.4925 0.4613 0.5340 0.5026 0.4804 0.5129 0.6746 0.6358 0.3688 0.4914 0.4567 0.4835 het 2002.50 188 1 34038214 . T C 2002.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.640;DP=188;Dels=0.00;FS=1.165;HRun=0;HaplotypeScore=7.5173;MQ=59.13;MQ0=0;MQRankSum=-2.651;QD=10.65;ReadPosRankSum=-0.590;VQSLOD=2.7660;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,85:188:99:2032,0,2728 1 34329897 34329897 T C exonic HMGB4 synonymous SNV HMGB4:NM_145205:exon2:c.T105C:p.Y35Y 0.99 1. 0.99 1. 0.96 1. 0.9713 0.9913 0.9820 1 0.9675 0.9574 0.9679 0.9943 0.97 0.99 0.95 1. 0.84 rs911218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9706 0.9919 0.9813 0.9832 0.9999 0.9682 0.9530 0.9655 0.9939 0.9660 0.9891 0.9857 0.9834 1 0.9634 0.9484 0.9613 hom 5723.05 190 1 34329897 . T C 5723.05 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.09;MQ0=0;QD=30.12;VQSLOD=8.6338;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5722,475,0 1 34663180 34663180 G A exonic C1orf94 synonymous SNV C1orf94:NM_001134734:exon2:c.G675A:p.R225R,C1orf94:NM_032884:exon2:c.G105A:p.R35R 0.12 0.13 0.11 0.058 0.16 0.099 0.1537 0.1535 0.1000 0.0532 0.1138 0.1918 0.1549 0.1061 0.18 0.16 0.2 0.054 0.26 rs3795412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1506 0.1511 0.1094 0.2192 0.0538 0.1135 0.1906 0.1668 0.1069 0.1549 0.1590 0.0907 0.2285 0.0568 0.1022 0.1787 0.1357 het 1864.91 107 1 34663180 . G A 1864.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.639;DP=107;Dels=0.00;FS=1.659;HRun=0;HaplotypeScore=2.7535;MQ=58.65;MQ0=0;MQRankSum=-0.068;QD=17.43;ReadPosRankSum=1.108;VQSLOD=5.1529;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,64:107:99:1895,0,1259 1 34663208 34663208 C G exonic C1orf94 nonsynonymous SNV C1orf94:NM_001134734:exon2:c.C703G:p.Q235E,C1orf94:NM_032884:exon2:c.C133G:p.Q45E 0.38 0.76 0.36 0.14 0.24 0.27 0.2847 0.6909 0.3119 0.1244 0.1583 0.2564 0.2489 0.2609 0.4 0.67 0.27 0.51 0.41 rs1382602 COSM5653452;COSM5653453 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.022 0.268 N 1 0.090 P -1.665 0.004 N 2.27 0.174 T 1.42 0.008 N 0.026 0.018 -0.986 0.336 T 0.000 0.000 T . . . -1.404 0.019 0.003 0.166 0.005 0.014 0.048 N c -1.175 -0.956 0.530 0.212 0.706 0.609 0 3.09 0.345 1.695 0.372 0.136 0.221 0.972 0.342 0.204 0.218 4.606 0.117 . . . 0.2756 0.7014 0.3098 0.2817 0.1242 0.1582 0.2581 0.2757 0.2582 0.3530 0.6934 0.2895 0.2848 0.1196 0.1427 0.2432 0.2200 het 1486.26 100 1 34663208 . C G 1486.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.420;DP=100;Dels=0.00;FS=4.984;HRun=1;HaplotypeScore=0.8321;MQ=59.40;MQ0=0;MQRankSum=-1.926;QD=14.86;ReadPosRankSum=-1.102;VQSLOD=4.0953;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,55:100:99:1516,0,1368 1 34663411 34663411 C G exonic C1orf94 nonsynonymous SNV C1orf94:NM_001134734:exon2:c.C906G:p.D302E,C1orf94:NM_032884:exon2:c.C336G:p.D112E 0.17 0.14 0.22 0.086 0.2 0.21 0.2021 0.1622 0.1971 0.0815 0.1379 0.2300 0.2053 0.2065 0.21 0.17 0.24 0.098 0.33 rs1414474 . . . . . . . . . . . . . 0.308 0.234 T 0.008 0.135 B 0.007 0.121 B 0.822 0.092 N 0.999 0.220 P 0.945 0.238 L 1.75 0.262 T -0.13 0.129 N 0.04 0.051 -0.995 0.314 T 0.000 0.000 T . . . 1.426 0.234 12.92 0.982 0.382 0.492 0.281 N c -0.542 -0.481 0.751 0.233 0.706 0.609 0 1.31 0.207 -0.105 0.108 -0.007 0.133 0.573 0.273 0.419 0.257 6.549 0.215 . . . 0.2007 0.1604 0.2037 0.2355 0.0791 0.1383 0.2319 0.2166 0.2040 0.1818 0.1682 0.1874 0.2417 0.0759 0.1247 0.2143 0.1622 het 1411.97 127 1 34663411 . C G 1411.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=127;Dels=0.00;FS=0.675;HRun=0;HaplotypeScore=6.7259;MQ=59.52;MQ0=0;MQRankSum=-1.351;QD=11.12;ReadPosRankSum=0.174;VQSLOD=3.8699;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,52:127:99:1442,0,2122 1 35227008 35227011 TGTC - exonic GJB4 frameshift deletion GJB4:NM_153212:exon2:c.153_156del:p.V52Afs*54 . . . . . . 0.0336 0.0092 0.0152 0.0002 0.0539 0.0439 0.0333 0.0276 0.034 0.012 0.046 . . rs146812843 COSM5713027 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0328 0.0080 0.0145 0.0158 0.0001 0.0541 0.0454 0.0309 0.0270 0.0321 0.0077 0.0167 0.0167 0 0.0556 0.0432 0.0419 het 1761.34 77 1 35227007 . TTGTC T 1761.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.737;DP=77;FS=7.782;HRun=0;HaplotypeScore=376.5769;MQ=56.66;MQ0=0;MQRankSum=-0.161;QD=22.87;ReadPosRankSum=1.316;set=variant2 GT:AD:DP:GQ:PL 0/1:41,36:77:99:1800,0,3017 1 35250457 35250457 C T exonic GJB3 nonsynonymous SNV GJB3:NM_001005752:exon2:c.C94T:p.R32W,GJB3:NM_024009:exon2:c.C94T:p.R32W 0.013 0.0008 0.02 . 0.038 0.012 0.0242 0.0059 0.0062 0.0001 0.0543 0.0331 0.0211 0.0133 0.023 0.0082 0.031 0.022 0.049 rs1805063 . . Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000039325.4|RCV000288928.1 MedGen|MedGen CN169374|CN239435 . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1.000 0.588 D 3.985 0.967 H -6.43 0.997 D -6.99 0.936 D 0.313 0.428 0.469 0.901 D 0.981 0.994 D . . . 5.898 0.809 27.5 0.999 0.981 0.846 0.434 D c 0.725 0.592 1.000 0.747 0.490 0.173 1 5.85 0.936 1.127 0.308 0.013 0.140 1.000 0.715 0.990 0.544 19.788 0.964 Connexin\x2c N-terminal . . 0.0237 0.0050 0.0073 0.0157 0.0001 0.0538 0.0327 0.0192 0.0129 0.0234 0.0045 0.0084 0.0132 0 0.0550 0.0300 0.0336 het 1561.85 119 1 35250457 . C T 1561.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.104;DP=119;Dels=0.00;FS=3.378;HRun=0;HaplotypeScore=5.1552;MQ=58.98;MQ0=0;MQRankSum=0.412;QD=13.12;ReadPosRankSum=-0.790;VQSLOD=4.5312;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,57:119:99:1592,0,1572 1 35259946 35259946 G A exonic GJA4 synonymous SNV GJA4:NM_002060:exon2:c.G132A:p.V44V 0.24 0.48 0.16 0.13 0.22 0.081 0.2044 0.4370 0.1002 0.1428 0.3100 0.2114 0.2081 0.0924 0.28 0.44 0.2 0.29 0.21 rs1764389 COSM146462 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1983 0.4416 0.1054 0.1857 0.1458 0.3106 0.2089 0.1921 0.0935 0.2780 0.4373 0.1041 0.2267 0.1323 0.3024 0.2074 0.2561 het 2181.73 233 1 35259946 . G A 2181.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.372;DP=233;Dels=0.00;FS=2.330;HRun=0;HaplotypeScore=7.9371;MQ=59.28;MQ0=0;MQRankSum=2.089;QD=9.36;ReadPosRankSum=-0.418;VQSLOD=3.5793;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,93:233:99:2212,0,3903 1 35259961 35259961 A G exonic GJA4 synonymous SNV GJA4:NM_002060:exon2:c.A147G:p.Q49Q 0.62 0.85 0.51 0.48 0.65 0.5 0.6175 0.8256 0.4546 0.4783 0.7136 0.6493 0.6399 0.5050 0.71 0.82 0.65 0.65 0.67 rs1764390 COSM3746944 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6087 0.8303 0.4665 0.6394 0.4742 0.7132 0.6444 0.6217 0.5114 0.6949 0.8361 0.4892 0.6667 0.4465 0.7023 0.6496 0.6926 het 2383.08 236 1 35259961 . A G 2383.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.321;DP=236;Dels=0.00;FS=0.493;HRun=0;HaplotypeScore=6.3038;MQ=59.29;MQ0=0;MQRankSum=-0.483;QD=10.10;ReadPosRankSum=0.447;VQSLOD=4.7418;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,93:236:99:2413,0,3737 1 35260769 35260769 C T exonic GJA4 nonsynonymous SNV GJA4:NM_002060:exon2:c.C955T:p.P319S 0.33 0.58 0.27 0.17 0.33 0.21 0.3134 0.5389 0.2376 0.1716 0.4314 0.3191 0.3103 0.2273 0.38 0.53 0.3 0.38 0.33 rs1764391 COSM4967511 9(soft_tissue);1(pancreas) . . . . . . . . . . . 0.802 0.031 T 0.0 0.026 B 0.0 0.013 B 0.088 0.024 N 1 0.090 P -0.585 0.023 N -4.25 0.971 D 0.34 0.038 N 0.025 0.007 -0.943 0.422 T 0.000 0.000 T . . . -0.871 0.037 0.030 0.540 0.049 0.036 0.087 N c -1.177 -1.057 0.086 0.160 0.646 0.450 0 0.013 0.134 -0.296 0.083 -0.202 0.102 0.000 0.063 0.176 0.212 5.862 0.179 . ENSG00000189280.3|ENSG00000189280.3 Artery_Tibial|Testis 0.3036 0.5394 0.2409 0.2909 0.1702 0.4285 0.3104 0.2989 0.2201 0.3873 0.5389 0.2566 0.3709 0.1553 0.4239 0.3240 0.3740 het 1257.12 113 1 35260769 . C T 1257.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.043;DP=113;Dels=0.00;FS=2.527;HRun=0;HaplotypeScore=2.7348;MQ=59.80;MQ0=0;MQRankSum=2.070;QD=11.12;ReadPosRankSum=-1.328;VQSLOD=5.4381;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,54:113:99:1287,0,1478 1 35562965 35562965 G A exonic ZMYM1 nonsynonymous SNV ZMYM1:NM_001289089:exon4:c.G217A:p.V73M,ZMYM1:NM_024772:exon4:c.G217A:p.V73M,ZMYM1:NM_001289088:exon5:c.G217A:p.V73M,ZMYM1:NM_001289090:exon5:c.G217A:p.V73M 0.83 0.8 0.74 0.74 0.92 0.93 0.8804 0.8185 0.7191 0.7640 0.8712 0.9257 0.8703 0.9124 0.89 0.83 0.93 0.81 0.96 rs2971408 COSM5426235 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.556 0.064 T 0.001 0.067 B 0.001 0.040 B 0.023 0.265 N 1 0.588 P -0.805 0.016 N 2.23 0.181 T 0.33 0.039 N 0.02 0.221 -1.052 0.139 T 0.000 0.000 T . . . 0.332 0.126 5.995 0.636 0.071 0.306 0.239 N c -1.186 -0.959 0.022 0.134 0.672 0.522 0 -0.077 0.130 0.069 0.143 -0.866 0.028 0.945 0.326 0.204 0.218 6.658 0.220 . ENSG00000197056.5|ENSG00000197056.5|ENSG00000197056.5 Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial 0.8745 0.8200 0.7319 0.9014 0.7668 0.8690 0.9300 0.8794 0.9103 0.8741 0.8182 0.7661 0.8808 0.7553 0.8641 0.9260 0.8980 hom 4775.54 158 1 35562965 . G A 4775.54 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6014;MQ=59.25;MQ0=0;QD=30.22;VQSLOD=8.8230;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4775,367,0 1 36202585 36202585 G A exonic CLSPN nonsynonymous SNV CLSPN:NM_001190481:exon23:c.C3647T:p.S1216L,CLSPN:NM_001330490:exon24:c.C3839T:p.S1280L,CLSPN:NM_022111:exon24:c.C3839T:p.S1280L 0.05 0.082 0.04 0.001 0.069 0.047 0.0563 0.0885 0.0352 0.0007 0.0411 0.0615 0.0551 0.0652 0.071 0.082 0.065 0.011 0.041 rs35490896 . . . . . . . . . . . . . 0.043 0.486 D 0.007 0.131 B 0.006 0.184 B 0.007 0.320 N 0.831 0.287 N 1.965 0.534 M 1.66 0.275 T -3.97 0.736 D 0.144 0.188 -1.108 0.033 T 0.004 0.014 T . . . 4.642 0.622 24.5 0.996 0.722 0.953 0.640 D c -0.112 0.064 0.653 0.222 0.732 0.924 0 4.27 0.498 3.431 0.523 0.135 0.219 1.000 0.715 0.999 0.750 12.711 0.563 . ENSG00000142686.7|ENSG00000142686.7 Lung|Muscle_Skeletal 0.0554 0.0888 0.0343 0.0879 0.0006 0.0464 0.0613 0.0567 0.0673 0.0613 0.0848 0.0453 0.0960 0.0006 0.0475 0.0586 0.0460 het 1875.13 132 1 36202585 . G A 1875.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.536;DP=132;Dels=0.00;FS=1.381;HRun=2;HaplotypeScore=3.8745;MQ=58.94;MQ0=0;MQRankSum=-0.440;QD=14.21;ReadPosRankSum=0.809;VQSLOD=5.6276;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,70:132:99:1905,0,1637 1 36203660 36203662 TTC - exonic CLSPN nonframeshift deletion CLSPN:NM_001190481:exon21:c.3403_3405del:p.E1135del,CLSPN:NM_001330490:exon22:c.3595_3597del:p.E1199del,CLSPN:NM_022111:exon22:c.3595_3597del:p.E1199del 0.028 0.0015 0.035 0.001 0.068 0.047 0.0490 0.0100 0.0315 0.0010 0.0411 0.0611 0.0540 0.0653 0.046 0.0098 0.065 . . rs200760879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0477 0.0083 0.0241 0.0823 0.0008 0.0442 0.0583 0.0500 0.0620 0.0363 0.0078 0.0370 0.0967 0.0006 0.0330 0.0562 0.0377 het 1227.55 92 1 36203659 . TTTC T 1227.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.574;DP=92;FS=2.438;HRun=0;HaplotypeScore=368.8009;MQ=54.88;MQ0=0;MQRankSum=-0.455;QD=13.34;ReadPosRankSum=-0.386;set=variant2 GT:AD:DP:GQ:PL 0/1:58,34:92:99:1267,0,2176 1 36225948 36225948 T C exonic CLSPN nonsynonymous SNV CLSPN:NM_001190481:exon8:c.A1574G:p.N525S,CLSPN:NM_001330490:exon8:c.A1574G:p.N525S,CLSPN:NM_022111:exon8:c.A1574G:p.N525S 0.45 0.67 0.43 0.74 0.14 0.2 0.2718 0.6133 0.4689 0.7944 0.1555 0.1370 0.2489 0.2278 0.29 0.59 0.13 0.41 0.066 rs7537203 COSM5425391;COSM5425390 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.015 0.524 D 0.999 0.764 D 0.994 0.807 D 0.000 0.843 D 0.015 0.402 P 2.71 0.795 M 1.62 0.301 T -2.27 0.529 N 0.07 0.077 -1.044 0.160 T 0.000 0.000 T . . . 4.773 0.640 24.7 0.999 0.956 0.883 0.478 D c 0.603 0.565 1.000 0.747 0.707 0.730 0 5.08 0.682 3.627 0.537 1.011 0.635 1.000 0.715 1.000 0.888 13.406 0.602 . ENSG00000142686.7|ENSG00000142686.7|ENSG00000142686.7|ENSG00000092850.7|ENSG00000116871.11 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Lung|Thyroid|Whole_Blood 0.2695 0.6240 0.4476 0.2228 0.7969 0.1657 0.1289 0.2245 0.2072 0.3161 0.6173 0.4294 0.2483 0.8027 0.1672 0.1281 0.1741 het 1013.45 75 1 36225948 . T C 1013.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.827;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;MQRankSum=-0.821;QD=13.51;ReadPosRankSum=-0.313;VQSLOD=6.8613;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,37:75:99:1043,0,981 1 36316571 36316571 A C exonic AGO4 synonymous SNV AGO4:NM_017629:exon17:c.A2394C:p.S798S 0.49 0.14 0.54 0.25 0.85 0.8 0.7157 0.2423 0.5244 0.1941 0.8376 0.8573 0.7517 0.7965 0.66 0.26 0.86 0.46 0.9 rs4652895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7161 0.2320 0.5435 0.7709 0.1910 0.8258 0.8637 0.7639 0.7979 0.6387 0.2431 0.5566 0.7450 0.1836 0.8226 0.8665 0.8078 het 748.43 72 1 36316571 . A C 748.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.970;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=1.160;QD=10.39;ReadPosRankSum=-0.091;VQSLOD=6.6346;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,31:72:99:778,0,1123 1 36553673 36553673 A G exonic TEKT2 synonymous SNV TEKT2:NM_014466:exon10:c.A1179G:p.T393T 0.94 0.91 0.94 1. 0.91 0.94 0.9252 0.9205 0.9629 0.9992 0.9031 0.9140 0.9211 0.9170 0.92 0.92 0.92 0.8 0.94 rs399393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9267 0.9163 0.9628 0.9040 0.9995 0.9030 0.9158 0.9273 0.9152 0.9254 0.9268 0.9475 0.8742 0.9994 0.9024 0.9223 0.9172 het 689.08 74 1 36553673 . A G 689.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.248;DP=74;Dels=0.00;FS=11.419;HRun=0;HaplotypeScore=0.8321;MQ=58.87;MQ0=0;MQRankSum=-0.941;QD=9.31;ReadPosRankSum=-0.152;VQSLOD=4.0214;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,29:74:99:719,0,1155 1 36642420 36642420 T C exonic MAP7D1 synonymous SNV MAP7D1:NM_001286365:exon7:c.T1245C:p.S415S,MAP7D1:NM_018067:exon8:c.T1356C:p.S452S,MAP7D1:NM_001286366:exon9:c.T1260C:p.S420S 0.75 0.89 0.78 0.91 0.58 0.55 0.6682 0.8440 0.8331 0.9305 0.6070 0.5929 0.6398 0.5931 0.66 0.82 0.58 0.72 0.14 rs475591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6476 0.8447 0.8071 0.5182 0.9261 0.5681 0.5696 0.6238 0.5780 0.6776 0.8380 0.7769 0.5133 0.9190 0.5818 0.5829 0.6027 het 128.80 14 1 36642420 . T C 128.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.406;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.54;MQ0=0;MQRankSum=0.545;QD=9.20;ReadPosRankSum=-1.276;VQSLOD=5.5494;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:159,0,204 1 36752433 36752433 C T exonic THRAP3 nonsynonymous SNV THRAP3:NM_001321473:exon4:c.C602T:p.A201V,THRAP3:NM_005119:exon4:c.C602T:p.A201V,THRAP3:NM_001321471:exon5:c.C602T:p.A201V 0.8 0.52 0.86 0.95 0.88 0.87 0.8625 0.5784 0.9248 0.9406 0.9173 0.8788 0.8590 0.8687 0.78 0.59 0.88 0.74 0.8 rs6425977 . . . . . . . . . . . . . 0.153 0.243 T 0.103 0.243 B 0.058 0.250 B 0.132 0.186 N 0.263 0.338 P 1.355 0.339 L 2.54 0.139 T -0.34 0.127 N 0.047 0.064 -1.020 0.238 T 0.000 0.000 T . . . 2.445 0.355 19.11 0.990 0.494 0.525 0.289 D c -0.394 -0.246 1.000 0.480 0.707 0.730 0 4.79 0.608 0.740 0.257 0.852 0.362 0.000 0.063 0.999 0.750 13.973 0.636 . ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.8691 0.5725 0.9218 0.8221 0.9373 0.9094 0.8793 0.8722 0.8689 0.8015 0.5772 0.9010 0.8113 0.9333 0.9050 0.8828 0.8783 het 2267.16 145 1 36752433 . C T 2267.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.701;DP=145;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0021;MQ=58.86;MQ0=0;MQRankSum=0.049;QD=15.64;ReadPosRankSum=-1.156;VQSLOD=5.6256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,83:145:99:2297,0,1778 1 36807481 36807481 C T exonic STK40 nonsynonymous SNV STK40:NM_001282546:exon11:c.G1198A:p.A400T,STK40:NM_001282547:exon11:c.G1183A:p.A395T,STK40:NM_032017:exon12:c.G1183A:p.A395T 0.18 0.17 0.14 0.14 0.23 0.21 0.2128 0.1912 0.1185 0.1140 0.1963 0.2448 0.1944 0.2228 0.23 0.19 0.25 0.25 0.19 rs3795498 COSM3927627;COSM330293;COSM330292 1(haematopoietic_and_lymphoid_tissue);3(prostate);1(large_intestine) . . . . . . . . . . . 0.114 0.324 T 0.04 0.198 B 0.005 0.104 B 0.000 0.629 D 0.000 0.810 P 0.895 0.225 L -0.02 0.629 T -0.06 0.079 N 0.061 0.045 -1.106 0.034 T 0.000 0.000 T . . . 3.937 0.530 23.5 0.998 0.879 0.960 0.667 D c -0.102 0.112 1.000 0.747 0.707 0.730 0 5.11 0.691 5.743 0.681 0.919 0.430 1.000 0.715 0.979 0.486 17.506 0.876 . ENSG00000214193.5 Colon_Transverse 0.2074 0.1908 0.1288 0.1719 0.1162 0.1963 0.2490 0.2067 0.2227 0.2186 0.1975 0.1122 0.1821 0.1067 0.2064 0.2516 0.2331 het 803.29 70 1 36807481 . C T 803.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.925;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.67;MQ0=0;MQRankSum=-0.301;QD=11.48;ReadPosRankSum=0.808;VQSLOD=6.7424;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,32:70:99:833,0,1000 1 36887813 36887813 C A exonic OSCP1 nonsynonymous SNV OSCP1:NM_145047:exon7:c.G757T:p.V253L,OSCP1:NM_001330493:exon8:c.G787T:p.V263L 0.011 0.0015 0.04 . 0.022 0.0041 0.0211 0.0049 0.0477 0 0.0383 0.0243 0.0209 0.0038 0.014 0.0036 0.019 . . rs17442970 . . . . . . . . . . . . . 0.344 0.195 T 0.001 0.067 B 0.002 0.063 B 0.071 0.215 N 1.000 0.090 N 1.36 0.342 L 1.91 0.315 T -0.68 0.197 N 0.028 0.086 -1.051 0.141 T 0.024 0.102 T . . . 2.111 0.315 16.92 0.898 0.185 0.282 0.233 N c -0.850 -0.813 0.006 0.110 0.651 0.465 0 -0.414 0.117 0.910 0.280 -0.903 0.026 0.020 0.195 0.083 0.182 3.787 0.082 . . . 0.0210 0.0038 0.0440 0.0028 0 0.0372 0.0228 0.0226 0.0035 0.0179 0.0046 0.0382 0.0066 0 0.0392 0.0210 0.0285 het 1312.68 110 1 36887813 . C A 1312.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.128;DP=110;Dels=0.00;FS=2.905;HRun=1;HaplotypeScore=5.8699;MQ=58.78;MQ0=0;MQRankSum=0.253;QD=11.93;ReadPosRankSum=-0.854;VQSLOD=5.0867;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,49:110:99:1343,0,1428 1 36927733 36927733 G A exonic MRPS15 synonymous SNV MRPS15:NM_031280:exon3:c.C207T:p.P69P 0.98 0.99 0.98 1. 0.93 0.98 0.9479 0.9876 0.9795 0.9998 0.9076 0.9270 0.9460 0.9739 0.95 0.98 0.93 1. 0.96 rs7065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9488 0.9876 0.9784 0.9756 0.9998 0.9082 0.9256 0.9522 0.9732 0.9461 0.9874 0.9749 0.9702 1 0.9084 0.9241 0.9287 hom 2821.69 92 1 36927733 . G A 2821.69 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=58.98;MQ0=0;QD=30.67;VQSLOD=9.5115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2855,214,0 1 36937059 36937059 A G exonic CSF3R synonymous SNV CSF3R:NM_000760:exon10:c.T1260C:p.T420T,CSF3R:NM_156039:exon10:c.T1260C:p.T420T,CSF3R:NM_172313:exon10:c.T1260C:p.T420T 0.59 0.74 0.4 0.45 0.57 0.71 0.5648 0.7212 0.3853 0.4048 0.5994 0.5575 0.5662 0.6916 0.61 0.72 0.55 0.62 0.46 rs3917981 COSM1748391;COSM1748390 3(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(thyroid) Benign not_specified RCV000248446.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5542 0.7266 0.3953 0.5441 0.4069 0.6059 0.5552 0.5662 0.6843 0.5927 0.7304 0.4165 0.5397 0.4061 0.6111 0.5399 0.5809 het 2984.52 235 1 36937059 . A G 2984.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.102;DP=235;DS;Dels=0.00;FS=1.011;HRun=2;HaplotypeScore=6.4736;MQ=58.76;MQ0=0;MQRankSum=0.282;QD=12.70;ReadPosRankSum=2.312;VQSLOD=4.4357;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,109:235:99:3015,0,3461 1 36937065 36937065 A G exonic CSF3R synonymous SNV CSF3R:NM_000760:exon10:c.T1254C:p.R418R,CSF3R:NM_156039:exon10:c.T1254C:p.R418R,CSF3R:NM_172313:exon10:c.T1254C:p.R418R 0.25 0.17 0.2 0.13 0.34 0.41 0.3156 0.1959 0.2494 0.1025 0.3341 0.3478 0.3172 0.4114 0.3 0.2 0.35 0.23 0.32 rs3917980 COSM4143874;COSM4143873 1(thyroid) Benign not_specified RCV000243703.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3139 0.1971 0.2546 0.3551 0.0997 0.3424 0.3458 0.3243 0.4055 0.2815 0.2036 0.2404 0.3543 0.1168 0.3480 0.3277 0.3190 het 2946.95 231 1 36937065 . A G 2946.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.642;DP=231;DS;Dels=0.00;FS=5.512;HRun=3;HaplotypeScore=7.4694;MQ=58.37;MQ0=0;MQRankSum=0.346;QD=12.76;ReadPosRankSum=1.707;VQSLOD=3.9335;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,109:231:99:2977,0,3113 1 38019747 38019747 C T exonic SNIP1 synonymous SNV SNIP1:NM_024700:exon1:c.G84A:p.V28V 0.23 0.064 0.29 0.39 0.22 0.25 0.2183 0.0740 0.3541 0.3880 0.2284 0.1873 0.2037 0.2344 0.15 0.077 0.18 0.22 0.15 rs2273013 COSM1627042 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2229 0.0690 0.3448 0.1733 0.3861 0.2203 0.1850 0.2019 0.2280 0.1691 0.0662 0.3174 0.1689 0.3984 0.2183 0.1818 0.2094 het 764.45 57 1 38019747 . C T 764.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=0.072;QD=13.41;ReadPosRankSum=0.217;VQSLOD=6.5311;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,25:57:99:794,0,1043 1 38023316 38023316 C T exonic DNALI1 nonsynonymous SNV DNALI1:NM_003462:exon2:c.C260T:p.A87V 0.2 0.068 0.2 0.35 0.25 0.19 0.2360 0.0944 0.2285 0.3683 0.1892 0.2501 0.2665 0.2210 0.2 0.097 0.26 0.17 0.22 rs11749 COSM4143883 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.08 0.335 T 0.749 0.413 P 0.492 0.456 P 0.002 0.385 N 0.000 0.810 P 0.49 0.133 N 0.97 0.425 T -0.63 0.185 N 0.197 0.241 -0.909 0.470 T 0.000 0.000 T . . . 4.910 0.660 25.0 0.998 0.896 0.928 0.563 D c 0.253 0.391 1.000 0.747 0.660 0.490 0 5.76 0.907 3.981 0.564 0.892 0.403 1.000 0.715 1.000 0.888 17.450 0.874 . ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000134697.8|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163879.9|ENSG00000232273.1|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.2396 0.0882 0.2287 0.3261 0.3639 0.1899 0.2500 0.2636 0.2243 0.2007 0.0933 0.2428 0.3167 0.3644 0.1929 0.2434 0.1904 het 2641.16 248 1 38023316 . C T 2641.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.446;DP=248;DS;Dels=0.00;FS=3.032;HRun=0;HaplotypeScore=9.2660;MQ=59.06;MQ0=0;MQRankSum=0.515;QD=10.65;ReadPosRankSum=-2.748;VQSLOD=3.2466;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:141,107:248:99:2671,0,4284 1 38148765 38148765 A G exonic C1orf109 nonsynonymous SNV C1orf109:NM_001350755:exon5:c.T835C:p.Y279H,C1orf109:NM_001350756:exon5:c.T832C:p.Y278H,C1orf109:NM_001350760:exon5:c.T646C:p.Y216H,C1orf109:NM_001350761:exon5:c.T646C:p.Y216H,C1orf109:NM_001350764:exon5:c.T646C:p.Y216H,C1orf109:NM_001350762:exon7:c.T646C:p.Y216H,C1orf109:NM_001350763:exon7:c.T646C:p.Y216H 0.83 0.83 0.8 0.95 0.77 0.78 0.7846 0.8236 0.8128 0.9689 0.7629 0.7537 0.7395 0.7800 0.77 0.82 0.74 0.84 0.75 rs684260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7851 0.8226 0.8109 0.7163 0.9698 0.7631 0.7557 0.7694 0.7819 0.7938 0.8139 0.8067 0.7467 0.9698 0.7633 0.7707 0.7902 hom 2475.38 79 1 38148765 . A G 2475.38 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0979;MQ=58.04;MQ0=0;QD=31.33;VQSLOD=8.6867;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2508,196,0 1 38185647 38185647 G A exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon14:c.C2496T:p.F832F 0.056 0.057 0.048 0.028 0.11 0.034 0.0694 0.0706 0.0487 0.0149 0.0664 0.0887 0.0689 0.0348 0.086 0.066 0.096 0.065 0.082 rs2170809 COSM3746954 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0703 0.0676 0.0515 0.1091 0.0152 0.0637 0.0915 0.0863 0.0352 0.0715 0.0642 0.0692 0.1126 0.0154 0.0647 0.0828 0.0704 het 1974.79 160 1 38185647 . G A 1974.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.755;DP=160;Dels=0.00;FS=2.809;HRun=2;HaplotypeScore=1.6828;MQ=59.48;MQ0=0;MQRankSum=1.225;QD=12.34;ReadPosRankSum=-0.217;VQSLOD=5.9047;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,76:160:99:2005,0,2063 1 38185723 38185723 C T exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon14:c.G2420A:p.R807Q 0.045 0.017 0.045 0.028 0.11 0.034 0.0660 0.0315 0.0464 0.0149 0.0666 0.0888 0.0705 0.0348 0.072 0.031 0.093 0.054 0.049 rs6670599 COSM4970363 1(central_nervous_system) . . . . . . . . . . . 0.001 0.784 D 0.985 0.592 D 0.566 0.479 P 0.004 0.338 N 0.005 0.810 P 0.36 0.120 N 0.02 0.623 T -1.55 0.375 N 0.237 0.296 -0.958 0.395 T 0.006 0.020 T . . . 7.169 0.944 34 0.999 0.999 0.601 0.308 D c 0.352 0.393 0.999 0.378 0.554 0.246 0 4.66 0.577 4.892 0.626 0.810 0.333 1.000 0.715 0.574 0.284 7.130 0.245 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000183317.12|ENSG00000183317.12 Esophagus_Muscularis|Nerve_Tibial 0.0673 0.0290 0.0492 0.1091 0.0152 0.0637 0.0913 0.0842 0.0351 0.0618 0.0304 0.0658 0.1126 0.0148 0.0650 0.0827 0.0694 het 725.38 63 1 38185723 . C T 725.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.302;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9774;MQ=58.43;MQ0=0;MQRankSum=0.369;QD=11.51;ReadPosRankSum=1.562;VQSLOD=5.7857;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,27:63:99:755,0,860 1 38186206 38186206 C G exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon13:c.G2229C:p.V743V 0.045 0.017 0.045 0.028 0.11 0.034 0.0740 0.0366 0.0512 0.0169 0.0816 0.0988 0.0777 0.0381 0.073 0.034 0.093 0.054 0.049 rs12726343 COSM3746955 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0667 0.0291 0.0487 0.1085 0.0151 0.0634 0.0905 0.0840 0.0346 0.0621 0.0313 0.0680 0.1126 0.0154 0.0645 0.0826 0.0694 het 262.18 22 1 38186206 . C G 262.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.313;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.263;QD=11.92;ReadPosRankSum=0.525;VQSLOD=10.9069;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,11:22:99:292,0,293 1 38187447 38187447 A G exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon11:c.T2031C:p.H677H 0.19 0.3 0.16 0.029 0.26 0.14 0.2288 0.3355 0.1196 0.0164 0.2599 0.2710 0.2188 0.1805 0.27 0.29 0.26 0.23 0.26 rs579908 COSM3746956 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2143 0.3147 0.1171 0.2631 0.0151 0.2490 0.2608 0.2305 0.1758 0.2574 0.3128 0.1504 0.24 0.0166 0.2589 0.2587 0.2352 het 433.72 29 1 38187447 . A G 433.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.513;DP=29;Dels=0.00;FS=1.536;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=-0.504;QD=14.96;ReadPosRankSum=-1.688;VQSLOD=5.2368;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,16:29:99:464,0,358 1 38187453 38187453 G A exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon11:c.C2025T:p.A675A 0.045 0.017 0.045 0.028 0.11 0.034 0.0704 0.0360 0.0485 0.0152 0.0753 0.0943 0.0778 0.0375 0.073 0.032 0.092 0.054 0.074 rs33970734 COSM3746957 1(NS);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0657 0.0285 0.0476 0.1072 0.0144 0.0624 0.0894 0.0823 0.0344 0.0619 0.0303 0.0680 0.1126 0.0154 0.0648 0.0827 0.0694 het 342.22 24 1 38187453 . G A 342.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.144;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.761;QD=14.26;ReadPosRankSum=-1.126;VQSLOD=10.4648;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:372,0,330 1 38188740 38188740 C T exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon10:c.G1933A:p.V645I 0.045 0.017 0.048 0.028 0.11 0.034 0.0667 0.0314 0.0536 0.0150 0.0667 0.0888 0.0702 0.0349 0.073 0.032 0.094 0.022 0.074 rs12405650 COSM3746958 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.920 0.075 N 0.986 0.247 P -0.12 0.045 N 0.1 0.614 T 0.23 0.046 N 0.053 0.256 -1.035 0.189 T 0.003 0.008 T . . . 0.523 0.144 7.602 0.127 0.002 0.296 0.236 N c -0.895 -0.769 1.000 0.427 0.554 0.246 0 2.02 0.255 1.483 0.349 -0.076 0.119 0.896 0.311 0.692 0.307 4.976 0.134 Protein kinase domain|Protein kinase-like domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000183317.12|ENSG00000183317.12 Esophagus_Muscularis|Nerve_Tibial 0.0684 0.0288 0.0554 0.1089 0.0153 0.0635 0.0917 0.0849 0.0352 0.0618 0.0303 0.0718 0.1126 0.0155 0.0647 0.0825 0.0694 het 1459.44 118 1 38188740 . C T 1459.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.091;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7985;MQ=58.92;MQ0=0;MQRankSum=-0.227;QD=12.37;ReadPosRankSum=-0.378;VQSLOD=6.2013;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,55:118:99:1489,0,1605 1 38188768 38188768 C T exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon10:c.G1905A:p.L635L 0.045 0.017 0.045 0.028 0.11 0.034 0.0659 0.0312 0.0461 0.0148 0.0666 0.0886 0.0702 0.0348 0.073 0.032 0.093 0.054 0.082 rs17464871 COSM3746959 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0674 0.0289 0.0492 0.1090 0.0152 0.0635 0.0914 0.0842 0.0352 0.0617 0.0304 0.0658 0.1126 0.0154 0.0647 0.0826 0.0692 het 1298.21 113 1 38188768 . C T 1298.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.228;DP=113;Dels=0.00;FS=2.446;HRun=0;HaplotypeScore=1.5362;MQ=58.97;MQ0=0;MQRankSum=0.009;QD=11.49;ReadPosRankSum=1.024;VQSLOD=6.5223;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,51:113:99:1328,0,1829 1 38188787 38188787 A G exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon10:c.T1886C:p.L629P 0.045 0.017 0.045 0.028 0.11 0.034 0.0660 0.0313 0.0460 0.0149 0.0665 0.0888 0.0702 0.0349 0.073 0.032 0.093 0.054 0.082 rs17511304 COSM3746960 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.344 N 0.000 0.497 P -2.34 0.001 N 5.12 0.013 T 8.39 0.000 N 0.062 0.417 -0.993 0.319 T 0.000 0.000 T . . . 0.379 0.131 6.430 0.060 0.000 0.057 0.115 N c -1.114 -0.834 1.000 0.517 0.615 0.372 0 4.36 0.515 4.528 0.601 0.041 0.156 1.000 0.715 0.991 0.552 11.505 0.495 Ephrin receptor\x2c transmembrane domain ENSG00000183317.12|ENSG00000183317.12 Esophagus_Muscularis|Nerve_Tibial 0.0674 0.0289 0.0491 0.1089 0.0152 0.0635 0.0915 0.0841 0.0351 0.0618 0.0304 0.0680 0.1067 0.0154 0.0647 0.0828 0.0692 het 1298.77 108 1 38188787 . A G 1298.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.831;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6006;MQ=58.69;MQ0=0;MQRankSum=-1.637;QD=12.03;ReadPosRankSum=-0.486;VQSLOD=5.4280;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,51:108:99:1329,0,1523 1 38227086 38227086 A T exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon3:c.T841A:p.F281I,EPHA10:NM_173641:exon3:c.T841A:p.F281I 0.35 0.44 0.3 0.48 0.28 0.21 0.3015 0.4065 0.3051 0.4424 0.3687 0.2872 0.2494 0.1957 0.31 0.4 0.27 0.35 0.27 rs4653328 COSM3749052 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.554 0.089 T 0.0 0.102 B 0.0 0.040 B 0.889 0.087 N 1.000 0.195 P -1.245 0.008 N -4.32 0.972 D 0.94 0.015 N 0.047 0.028 -1.011 0.265 T 0.000 0.000 T . . . -0.010 0.093 2.492 0.861 0.158 0.024 0.068 N c -1.459 -1.365 0.000 0.029 0.497 0.185 0 -1.55 0.081 -1.192 0.031 -0.222 0.097 0.000 0.063 0.257 0.229 3.998 0.090 . ENSG00000204084.8|ENSG00000230955.1|ENSG00000204084.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Skin_Sun_Exposed_Lower_leg 0.2983 0.4106 0.3093 0.1174 0.4450 0.3751 0.2944 0.2719 0.1948 0.3512 0.4168 0.3113 0.1026 0.4557 0.3707 0.3061 0.3248 het 1669.11 116 1 38227086 . A T 1669.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.307;DP=116;DS;Dels=0.00;FS=4.615;HRun=0;HaplotypeScore=3.2726;MQ=58.43;MQ0=0;MQRankSum=-0.857;QD=14.39;ReadPosRankSum=-1.128;VQSLOD=4.7241;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,61:116:99:1699,0,1510 1 38289383 38289383 T C exonic MTF1 synonymous SNV MTF1:NM_005955:exon8:c.A1170G:p.T390T 0.21 0.063 0.21 0.26 0.28 0.28 0.2655 0.1032 0.2034 0.2772 0.3871 0.2892 0.2875 0.2590 0.23 0.1 0.29 0.2 0.3 rs12751325 COSM3746961 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2692 0.0989 0.2027 0.3137 0.2766 0.3824 0.2902 0.2664 0.2509 0.2578 0.0958 0.2026 0.3146 0.2679 0.4011 0.3156 0.3184 hom 1506.88 50 1 38289383 . T C 1506.88 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.14;VQSLOD=14.2023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1540,117,0 1 38338795 38338795 A G exonic INPP5B nonsynonymous SNV INPP5B:NM_001297434:exon13:c.T1502C:p.M501T,INPP5B:NM_001350227:exon13:c.T1334C:p.M445T,INPP5B:NM_001350228:exon16:c.T1334C:p.M445T,INPP5B:NM_005540:exon19:c.T1994C:p.M665T 0.52 0.3 0.6 0.48 0.73 0.62 0.6401 0.3607 0.5557 0.4994 0.7880 0.7114 0.6233 0.5920 0.6 0.38 0.7 0.5 0.76 rs11488569 COSM4417137 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.879 0.033 T 0.0 0.026 B 0.0 0.013 B 0.944 0.083 N 1 0.090 P -1.13 0.009 N -3.09 0.926 D 2.35 0.003 N 0.033 0.013 -0.950 0.410 T 0.000 0.000 T . . . -0.327 0.066 0.577 0.434 0.032 0.031 0.080 N c -1.207 -0.979 0.000 0.060 0.707 0.730 0 2.59 0.300 2.062 0.408 -0.278 0.085 0.990 0.367 0.925 0.399 5.429 0.156 Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase ENSG00000183431.7|ENSG00000197982.12|ENSG00000183386.5|ENSG00000183386.5|ENSG00000204084.8|ENSG00000183431.7|ENSG00000183386.5|ENSG00000230955.1|ENSG00000183431.7|ENSG00000183431.7|ENSG00000183386.5|ENSG00000230955.1|ENSG00000183431.7|ENSG00000183386.5|ENSG00000204084.8|ENSG00000183431.7|ENSG00000183386.5|ENSG00000204084.8|ENSG00000230955.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6440 0.3529 0.5677 0.6633 0.4981 0.7836 0.7136 0.6404 0.5943 0.6016 0.3554 0.5549 0.6556 0.5025 0.7838 0.7090 0.6830 hom 5717.36 199 1 38338795 . A G 5717.36 Mask AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9090;MQ=59.09;MQ0=0;QD=28.73;VQSLOD=8.3976;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,199:199:99:5716,451,0 1 38411445 38411445 G A exonic INPP5B synonymous SNV INPP5B:NM_005540:exon3:c.C135T:p.H45H 0.2 0.043 0.23 0.24 0.32 0.24 0.2858 0.0856 0.2239 0.2332 0.44 0.3318 0.2775 0.2280 0.23 0.085 0.31 0.17 0.26 rs871524 COSM3751175;COSM3751176 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2867 0.0795 0.2303 0.2913 0.2324 0.4350 0.3287 0.2737 0.2233 0.2772 0.0760 0.2261 0.2848 0.2146 0.4332 0.3615 0.3696 hom 4424.78 147 1 38411445 . G A 4424.78 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.10;VQSLOD=12.8080;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4424,349,0 1 39340282 39340282 C T exonic GJA9 nonsynonymous SNV GJA9:NM_030772:exon2:c.G1489A:p.V497I 0.31 0.15 0.48 0.27 0.45 0.31 0.3937 0.1790 0.4932 0.2775 0.4142 0.4416 0.3844 0.3185 0.36 0.19 0.46 0.26 0.39 rs880303 COSM5426246 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.494 0.079 T 0.0 0.026 B 0.0 0.013 B 0.001 0.006 N 1 0.090 P 0 0.065 N -4.36 0.973 D -0.05 0.078 N 0.022 0.007 -0.878 0.499 T 0.000 0.000 T . . . -0.332 0.066 0.560 0.742 0.102 0.055 0.113 N c -1.517 -1.564 1.000 0.747 0.370 0.049 0 -4.7 0.030 0.364 0.199 -0.892 0.027 0.000 0.063 0.076 0.179 1.938 0.031 . ENSG00000158315.6 Esophagus_Mucosa 0.4043 0.1710 0.4859 0.4814 0.2812 0.4115 0.4438 0.4351 0.3214 0.3596 0.1770 0.4797 0.4636 0.2910 0.4095 0.4497 0.4070 het 1777.29 155 1 39340282 . C T 1777.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.213;DP=155;Dels=0.00;FS=4.883;HRun=0;HaplotypeScore=4.9333;MQ=57.89;MQ0=0;MQRankSum=1.443;QD=11.47;ReadPosRankSum=0.690;VQSLOD=4.6689;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,71:155:99:1807,0,1936 1 39340607 39340607 A G exonic GJA9 synonymous SNV GJA9:NM_030772:exon2:c.T1164C:p.R388R 0.054 0.018 0.05 0.082 0.071 0.058 0.0840 0.0365 0.0434 0.0820 0.0555 0.1047 0.0850 0.0708 0.08 0.039 0.1 0.043 0.098 rs16825625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0810 0.0350 0.0441 0.1230 0.0803 0.0542 0.1024 0.0894 0.0713 0.0755 0.0324 0.0564 0.1457 0.0698 0.0619 0.1039 0.0764 het 1252.39 125 1 39340607 . A G 1252.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.026;DP=125;Dels=0.00;FS=0.673;HRun=0;HaplotypeScore=0.8941;MQ=59.82;MQ0=0;MQRankSum=-1.380;QD=10.02;ReadPosRankSum=0.555;VQSLOD=5.6480;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,55:125:99:1282,0,1751 1 39352271 39352271 G T exonic RHBDL2 nonsynonymous SNV RHBDL2:NM_001304746:exon8:c.C1057A:p.L353M,RHBDL2:NM_017821:exon8:c.C817A:p.L273M 0.31 0.15 0.48 0.27 0.45 0.31 0.3937 0.1795 0.4934 0.2776 0.4139 0.4415 0.3844 0.3184 0.36 0.19 0.46 0.26 0.41 rs2147914 COSM5425531;COSM5425532 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.21 0.196 T 0.994 0.647 D 0.854 0.591 P 0.000 0.629 D 0.002 0.442 P 2.25 0.640 M 1.41 0.334 T 0.14 0.054 N 0.214 0.271 -0.847 0.522 T 0.000 0.000 T . . . 4.315 0.578 24.0 0.994 0.648 0.866 0.456 D c 0.574 0.619 0.938 0.273 0.554 0.283 0 6.03 0.978 2.816 0.475 1.048 0.713 1.000 0.715 0.996 0.625 10.462 0.436 . ENSG00000158315.6 Esophagus_Mucosa 0.4025 0.1701 0.4825 0.4807 0.2792 0.4111 0.4430 0.4320 0.3179 0.3591 0.1769 0.4809 0.4636 0.2884 0.4094 0.4490 0.4061 het 2681.63 236 1 39352271 . G T 2681.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.972;DP=236;Dels=0.00;FS=4.611;HRun=0;HaplotypeScore=5.6101;MQ=58.76;MQ0=0;MQRankSum=2.653;QD=11.36;ReadPosRankSum=-0.324;VQSLOD=4.1483;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:132,104:236:99:2712,0,3805 1 39748921 39748921 G A exonic MACF1 synonymous SNV MACF1:NM_012090:exon7:c.G771A:p.Q257Q 0.59 0.27 0.67 0.65 0.72 0.8 0.6818 0.3383 0.7069 0.6356 0.7455 0.7035 0.6998 0.7906 0.58 0.35 0.69 0.48 0.66 rs2275188 COSM3751179;COSM3751180 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6865 0.3349 0.7040 0.6871 0.6333 0.7417 0.6988 0.6996 0.7851 0.5995 0.3402 0.7045 0.6821 0.6146 0.7473 0.7007 0.6892 hom 2917.79 99 1 39748921 . G A 2917.79 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=58.10;MQ0=0;QD=29.47;VQSLOD=8.1120;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2951,226,0 1 39957913 39957913 A G exonic BMP8A nonsynonymous SNV BMP8A:NM_181809:exon1:c.A250G:p.M84V 0.67 0.29 0.81 0.68 0.89 0.86 0.8538 0.4502 0.8445 0.6773 0.8837 0.9070 0.8620 0.8864 0.79 0.52 0.92 0.35 0.4 rs4660269 COSM3746962 1(liver);2(thyroid) . . . . . . . . . . . 0.163 0.234 T 0.008 0.135 B 0.021 0.181 B 0.000 0.629 U 0.016 0.401 P 2.155 0.604 M -0.1 0.643 T -1.86 0.435 N 0.095 0.095 -1.003 0.292 T 0.000 0.000 T . . . 1.127 0.202 11.36 0.960 0.277 0.625 0.315 D c -0.359 -0.245 1.000 0.747 0.598 0.340 0 3.32 0.370 0.929 0.282 0.895 0.411 1.000 0.715 0.923 0.397 7.876 0.286 Transforming growth factor-beta\x2c N-terminal ENSG00000198754.5|ENSG00000198754.5|ENSG00000183682.7 Artery_Tibial|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage 0.8504 0.3795 0.8307 0.9315 0.6590 0.8775 0.9024 0.8603 0.8825 0.7361 0.3715 0.8267 0.9448 0.6320 0.8740 0.9106 0.8573 hom 328.60 14 1 39957913 . A G 328.60 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.21;MQ0=0;QD=23.47;VQSLOD=6.8130;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:30.08:362,30,0 1 40098328 40098328 T C exonic HEYL nonsynonymous SNV HEYL:NM_014571:exon2:c.A140G:p.H47R 0.99 1. 0.99 1. 0.99 0.96 0.9887 0.9981 0.9969 0.9999 0.9979 0.9894 0.9912 0.9646 0.99 1. 0.99 1. 0.92 rs784625 COSM4143924 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.197 P -2.73 0.000 N -4.55 0.978 D 4.54 0.000 N 0.046 0.290 -0.915 0.462 T 0.000 0.000 T . . . 0.757 0.166 9.194 0.905 0.192 0.014 0.046 N c -0.907 -0.570 1.000 0.747 0.635 0.417 0 4.16 0.480 5.048 0.638 0.022 0.145 1.000 0.715 0.997 0.653 8.261 0.308 Myc-type\x2c basic helix-loop-helix (bHLH) domain . . 0.9889 0.9986 0.9961 0.9623 0.9998 0.9978 0.9909 0.9905 0.9647 0.9951 0.9987 0.9928 0.9636 1 0.9969 0.9929 0.9939 hom 7565.31 245 1 40098328 . T C 7565.31 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2090;MQ=59.58;MQ0=0;QD=30.88;VQSLOD=5.6540;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,244:245:99:7564,611,0 1 40129066 40129066 G A exonic NT5C1A synonymous SNV NT5C1A:NM_032526:exon4:c.C474T:p.S158S 0.041 0.003 0.022 0.11 0.044 0.032 0.0428 0.0086 0.0335 0.1144 0.0556 0.0422 0.0332 0.0311 0.031 0.011 0.042 0.033 0.033 rs4660340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0436 0.0074 0.0365 0.0216 0.1133 0.0547 0.0438 0.0366 0.0302 0.0372 0.0082 0.0394 0.0066 0.1197 0.0516 0.0421 0.0418 het 695.97 54 1 40129066 . G A 695.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.584;DP=54;Dels=0.00;FS=4.861;HRun=0;HaplotypeScore=3.8046;MQ=59.31;MQ0=0;MQRankSum=-0.121;QD=12.89;ReadPosRankSum=0.052;VQSLOD=4.7553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,27:54:99:726,0,778 1 40149642 40149642 G T exonic HPCAL4 synonymous SNV HPCAL4:NM_016257:exon3:c.C345A:p.R115R,HPCAL4:NM_001282396:exon4:c.C345A:p.R115R 0.86 0.92 0.83 0.82 0.82 0.87 0.8273 0.8829 0.8376 0.7934 0.8243 0.8091 0.8532 0.8760 0.83 0.88 0.81 0.76 0.86 rs784634 COSM426246 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8272 0.8834 0.8378 0.8673 0.7928 0.8333 0.8022 0.8255 0.8799 0.8337 0.8773 0.8425 0.9272 0.7978 0.8239 0.8117 0.8415 hom 3541.12 111 1 40149642 . G T 3541.12 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=58.42;MQ0=0;QD=31.90;VQSLOD=8.9059;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3541,286,0 1 40150156 40150156 G A exonic HPCAL4 synonymous SNV HPCAL4:NM_001282397:exon2:c.C120T:p.S40S,HPCAL4:NM_016257:exon2:c.C120T:p.S40S,HPCAL4:NM_001282396:exon3:c.C120T:p.S40S 0.36 0.48 0.24 0.27 0.35 0.36 0.3393 0.4630 0.2150 0.2844 0.3639 0.3310 0.3470 0.4014 0.37 0.46 0.33 0.3 0.47 rs9662128 COSM146475 1(stomach);2(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3283 0.4640 0.2200 0.3011 0.2715 0.3594 0.3308 0.3239 0.3884 0.3668 0.4653 0.2338 0.2351 0.2809 0.3533 0.3334 0.3487 het 817.88 69 1 40150156 . G A 817.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.870;DP=69;Dels=0.00;FS=0.993;HRun=0;HaplotypeScore=0.9989;MQ=59.30;MQ0=0;MQRankSum=0.030;QD=11.85;ReadPosRankSum=2.316;VQSLOD=5.9974;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,32:69:99:848,0,960 1 40349131 40349131 G A exonic TRIT1 synonymous SNV TRIT1:NM_001312691:exon1:c.C33T:p.P11P,TRIT1:NM_001312692:exon1:c.C33T:p.P11P,TRIT1:NM_017646:exon1:c.C33T:p.P11P 0.51 0.62 0.41 0.59 0.39 0.46 0.4452 0.5760 0.4893 0.5952 0.4184 0.3994 0.4233 0.4498 0.45 0.57 0.39 0.42 0.37 rs3845570 COSM5827897;COSM426251 1(upper_aerodigestive_tract);2(large_intestine) Benign not_specified RCV000441470.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4409 0.5817 0.4718 0.4645 0.5971 0.4044 0.3923 0.4101 0.4480 0.4564 0.5748 0.4713 0.4633 0.5800 0.4110 0.3861 0.4226 het 548.30 43 1 40349131 . G A 548.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.547;DP=43;Dels=0.00;FS=6.684;HRun=0;HaplotypeScore=1.6828;MQ=58.92;MQ0=0;MQRankSum=-0.547;QD=12.75;ReadPosRankSum=-0.328;VQSLOD=4.8603;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,21:43:99:578,0,580 1 40363054 40363054 G C exonic MYCL nonsynonymous SNV MYCL:NM_001033081:exon2:c.C1085G:p.T362S,MYCL:NM_001033082:exon3:c.C1175G:p.T392S 0.94 1. 0.9 1. 0.89 0.86 0.8865 0.9776 0.8654 0.9994 0.8916 0.8718 0.8756 0.8384 0.9 0.97 0.87 0.97 0.9 rs3134614 COSM3927628 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -0.77 0.017 N -0.9 0.773 T 0.17 0.051 N 0.057 0.048 -0.955 0.401 T 0.000 0.000 T . . . 0.145 0.108 4.091 0.818 0.134 0.109 0.161 N c -0.624 -0.369 1.000 0.747 0.646 0.442 0 4.53 0.548 2.284 0.429 0.012 0.140 1.000 0.715 0.999 0.750 5.637 0.167 . ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8842 0.9772 0.8712 0.8575 0.9992 0.8938 0.8729 0.8914 0.8263 0.9116 0.9750 0.8568 0.8477 0.9975 0.8808 0.8796 0.8707 hom 5269.01 172 1 40363054 . G C 5269.01 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2337;MQ=59.57;MQ0=0;QD=30.63;VQSLOD=8.7628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5268,400,0 1 40533266 40533266 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T685G:p.C229G,CAP1:NM_001330502:exon8:c.T682G:p.C228G,CAP1:NM_001350476:exon8:c.T685G:p.C229G,CAP1:NM_001350477:exon8:c.T685G:p.C229G,CAP1:NM_001350479:exon8:c.T685G:p.C229G,CAP1:NM_001350480:exon8:c.T685G:p.C229G,CAP1:NM_001350481:exon8:c.T685G:p.C229G,CAP1:NM_001350482:exon8:c.T682G:p.C228G,CAP1:NM_001350483:exon8:c.T682G:p.C228G,CAP1:NM_001350485:exon8:c.T682G:p.C228G,CAP1:NM_006367:exon8:c.T685G:p.C229G,CAP1:NM_001350475:exon9:c.T685G:p.C229G,CAP1:NM_001350478:exon9:c.T685G:p.C229G,CAP1:NM_001350484:exon9:c.T682G:p.C228G 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.89 rs11207440 COSM4591832 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.664 0.052 T 0.0 0.026 B 0.0 0.013 B 0.005 0.333 N 1.000 0.207 P -1.795 0.003 N 2.85 0.207 T -0.01 0.072 N 0.384 0.444 -0.960 0.392 T 0.000 0.000 T . . . 1.865 0.285 15.37 0.850 0.151 0.270 0.229 N c -0.757 -0.496 1.000 0.747 0.707 0.730 0 4.56 0.555 1.555 0.357 0.136 0.221 0.873 0.306 0.973 0.468 12.227 0.536 Adenylate cyclase-associated CAP\x2c N-terminal . . 1 1 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 1881.72 60 1 40533266 . T G 1881.72 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3990;MQ=52.31;MQ0=0;QD=31.36;VQSLOD=4.3219;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1915,156,0 1 40533287 40533287 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T706G:p.C236G,CAP1:NM_001330502:exon8:c.T703G:p.C235G,CAP1:NM_001350476:exon8:c.T706G:p.C236G,CAP1:NM_001350477:exon8:c.T706G:p.C236G,CAP1:NM_001350479:exon8:c.T706G:p.C236G,CAP1:NM_001350480:exon8:c.T706G:p.C236G,CAP1:NM_001350481:exon8:c.T706G:p.C236G,CAP1:NM_001350482:exon8:c.T703G:p.C235G,CAP1:NM_001350483:exon8:c.T703G:p.C235G,CAP1:NM_001350485:exon8:c.T703G:p.C235G,CAP1:NM_006367:exon8:c.T706G:p.C236G,CAP1:NM_001350475:exon9:c.T706G:p.C236G,CAP1:NM_001350478:exon9:c.T706G:p.C236G,CAP1:NM_001350484:exon9:c.T703G:p.C235G 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.85 rs6665926 COSM4591839 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.279 0.163 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.182 P -1.98 0.002 N 1.62 0.282 T 3.78 0.008 N 0.32 0.400 -0.938 0.430 T 0.000 0.000 T . . . 1.424 0.234 12.91 0.807 0.129 0.150 0.185 N c -0.746 -0.480 1.000 0.500 0.707 0.730 0 4.88 0.630 4.552 0.602 0.136 0.221 1.000 0.715 0.263 0.230 12.535 0.553 Adenylate cyclase-associated CAP\x2c N-terminal . . 1.0000 1 1 0.9999 0.9999 1 1.0000 1 1.0000 1.0000 1 1 1 1 1 0.9999 1 hom 1190.87 40 1 40533287 . T G 1190.87 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9916;MQ=46.85;MQ0=0;QD=29.77;VQSLOD=2.9904;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1224,105,0 1 40533326 40533326 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T745G:p.Y249D,CAP1:NM_001330502:exon8:c.T742G:p.Y248D,CAP1:NM_001350476:exon8:c.T745G:p.Y249D,CAP1:NM_001350477:exon8:c.T745G:p.Y249D,CAP1:NM_001350479:exon8:c.T745G:p.Y249D,CAP1:NM_001350480:exon8:c.T745G:p.Y249D,CAP1:NM_001350481:exon8:c.T745G:p.Y249D,CAP1:NM_001350482:exon8:c.T742G:p.Y248D,CAP1:NM_001350483:exon8:c.T742G:p.Y248D,CAP1:NM_001350485:exon8:c.T742G:p.Y248D,CAP1:NM_006367:exon8:c.T745G:p.Y249D,CAP1:NM_001350475:exon9:c.T745G:p.Y249D,CAP1:NM_001350478:exon9:c.T745G:p.Y249D,CAP1:NM_001350484:exon9:c.T742G:p.Y248D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.97 rs6665937 COSM4591850 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.777 0.033 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 1.000 0.189 P -2.69 0.000 N 2.8 0.111 T 3.55 0.001 N 0.249 0.397 -0.959 0.393 T 0.000 0.000 T . . . 1.005 0.190 10.69 0.489 0.041 0.115 0.165 N c -0.829 -0.576 1.000 0.747 0.707 0.730 0 4.88 0.630 4.954 0.631 0.136 0.221 1.000 0.715 0.090 0.185 12.535 0.553 Adenylate cyclase-associated CAP\x2c N-terminal . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1336.06 42 1 40533326 . T G 1336.06 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=39.97;MQ0=0;QD=31.81;VQSLOD=2.3179;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1369,123,0 1 40533347 40533347 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T766G:p.S256A,CAP1:NM_001330502:exon8:c.T763G:p.S255A,CAP1:NM_001350476:exon8:c.T766G:p.S256A,CAP1:NM_001350477:exon8:c.T766G:p.S256A,CAP1:NM_001350479:exon8:c.T766G:p.S256A,CAP1:NM_001350480:exon8:c.T766G:p.S256A,CAP1:NM_001350481:exon8:c.T766G:p.S256A,CAP1:NM_001350482:exon8:c.T763G:p.S255A,CAP1:NM_001350483:exon8:c.T763G:p.S255A,CAP1:NM_001350485:exon8:c.T763G:p.S255A,CAP1:NM_006367:exon8:c.T766G:p.S256A,CAP1:NM_001350475:exon9:c.T766G:p.S256A,CAP1:NM_001350478:exon9:c.T766G:p.S256A,CAP1:NM_001350484:exon9:c.T763G:p.S255A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.98 rs6665944 COSM4591858 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.001 0.428 N 1 0.090 P -2.53 0.001 N 3.07 0.663 T 2.31 0.003 N 0.283 0.353 -0.953 0.405 T 0.000 0.000 T . . . 1.056 0.195 10.97 0.310 0.017 0.152 0.186 N c -0.805 -0.489 1.000 0.747 0.707 0.730 0 4.88 0.630 4.929 0.629 0.136 0.221 1.000 0.715 0.997 0.653 8.352 0.313 Adenylate cyclase-associated CAP\x2c N-terminal . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 1496.28 45 1 40533347 . T G 1496.28 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=45.14;MQ0=0;QD=33.25;VQSLOD=3.6114;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1529,132,0 1 40535490 40535490 - G exonic CAP1 frameshift insertion CAP1:NM_001105530:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001330502:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_001350476:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350477:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350479:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350480:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350481:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350482:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_001350483:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_001350485:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_006367:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350475:exon10:c.938dupG:p.A314Sfs*9,CAP1:NM_001350478:exon10:c.938dupG:p.A314Sfs*9,CAP1:NM_001350484:exon10:c.935dupG:p.A313Sfs*9 . . . . . . 0.0040 0.0079 0.0266 0.0108 0.0085 0.0022 0.0112 0.0045 . . . . . rs370362556 COSM5943154 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 838.24 131 1 40535490 . C CG 838.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.346;DP=131;DS;FS=125.979;HRun=1;HaplotypeScore=683.9167;MQ=60.22;MQ0=0;MQRankSum=0.990;QD=6.40;ReadPosRankSum=-4.512;set=variant2 GT:AD:DP:GQ:PL 0/1:57,74:131:99:877,0,1276 1 40562894 40562894 C A exonic PPT1 nonsynonymous SNV PPT1:NM_000310:exon1:c.G17T:p.C6F,PPT1:NM_001142604:exon1:c.G17T:p.C6F . . . . . . 8.381e-06 0 0 0 0 1.528e-05 0 0 . . . . . rs202241486 . . . . . . . . . . . . . 0.364 0.400 T 0.0 0.026 B 0.0 0.013 B 0.132 0.028 N 1 0.090 N 0.435 0.127 N -3.97 0.962 D -0.08 0.743 N 0.107 0.222 -0.040 0.814 T 0.711 0.901 D 0.051 0.647 D -0.996 0.032 0.016 0.750 0.106 0.049 0.105 N c -1.748 -1.886 1.0 0.983 0.442 0.072 0 -8.87 0.007 -2.251 0.013 -1.139 0.017 0.000 0.063 0.000 0.016 10.315 0.427 . . . 1.227e-05 0 0 0 0 0 2.723e-05 0 0 . . . . . . . . het 517.80 47 1 40562894 . C A 517.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.066;DP=47;Dels=0.00;FS=3.006;HRun=1;HaplotypeScore=3.0588;MQ=57.70;MQ0=0;MQRankSum=0.398;QD=11.02;ReadPosRankSum=-0.398;VQSLOD=3.3370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,20:47:99:548,0,833 1 40703244 40703244 G A exonic RLF nonsynonymous SNV RLF:NM_012421:exon8:c.G2870A:p.G957D 0.0094 . 0.014 . 0.029 0.0082 0.0228 0.0040 0.0125 0 0.0372 0.0316 0.0243 0.0123 0.023 0.0054 0.032 0.011 0.025 rs35042446 . . . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1.000 0.588 D 0.975 0.246 L 1.12 0.387 T -1.55 0.375 N 0.349 0.410 -0.904 0.476 T 0.086 0.335 T . . . 4.326 0.579 24.0 0.997 0.802 0.992 0.925 D c 0.768 0.814 1.000 0.747 0.722 0.854 0 6.06 0.983 7.565 0.812 1.048 0.713 1.000 0.715 1.000 0.888 20.621 0.995 Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0234 0.0035 0.0165 0.0368 0 0.0365 0.0308 0.0275 0.0125 0.0241 0.0047 0.0143 0.0397 0 0.0335 0.0353 0.0356 het 1464.69 122 1 40703244 . G A 1464.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.401;DP=122;Dels=0.00;FS=1.472;HRun=0;HaplotypeScore=2.9285;MQ=59.07;MQ0=0;MQRankSum=-0.731;QD=12.01;ReadPosRankSum=-0.618;VQSLOD=5.9720;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,58:122:99:1495,0,1694 1 40773123 40773123 G C exonic COL9A2 nonsynonymous SNV COL9A2:NM_001852:exon19:c.C1003G:p.L335V 0.085 0.051 0.084 0.11 0.097 0.096 0.1077 0.0695 0.0823 0.1228 0.0948 0.1169 0.1144 0.1078 0.1 0.074 0.11 0.087 0.066 rs2228567 COSM329270 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Stickler_Syndrome\x2c_Recessive|Multiple_Epiphyseal_Dysplasia\x2c_Dominant RCV000254333.2|RCV000296221.1|RCV000350869.1 MedGen|MedGen|MedGen CN169374|CN239473|CN043640 . . . . . . 0.05 0.395 D 0.822 0.438 P 0.552 0.475 P 0.023 0.266 N 0.654 0.305 P 1.445 0.365 L -3.24 0.935 D -0.84 0.229 N 0.12 0.134 -0.627 0.637 T 0.040 0.171 T . . . 3.607 0.491 23.2 0.991 0.528 0.812 0.404 D c -0.079 -0.054 0.990 0.318 0.672 0.522 0 3.0 0.336 0.394 0.204 0.146 0.234 0.177 0.238 0.999 0.750 8.241 0.306 . . . 0.1043 0.0656 0.0819 0.0635 0.1228 0.0850 0.1200 0.0971 0.1090 0.0933 0.0642 0.0871 0.0364 0.1142 0.0814 0.1113 0.1071 het 379.96 34 1 40773123 . G C 379.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DP=34;Dels=0.00;FS=8.008;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=-0.776;QD=11.18;ReadPosRankSum=0.811;VQSLOD=3.9616;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,16:34:99:410,0,447 1 40773149 40773149 T C exonic COL9A2 nonsynonymous SNV COL9A2:NM_001852:exon19:c.A977G:p.Q326R 0.4 0.42 0.41 0.62 0.22 0.32 0.3033 0.4145 0.5021 0.5978 0.2455 0.2210 0.2511 0.2980 0.28 0.4 0.21 0.37 0.2 rs2228564 . . Benign|Benign|Benign not_specified|Multiple_Epiphyseal_Dysplasia\x2c_Dominant|Stickler_Syndrome\x2c_Recessive RCV000248635.2|RCV000297316.1|RCV000401202.1 MedGen|MedGen|MedGen CN169374|CN043640|CN239473 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.373 N 1.000 0.090 P 0.955 0.240 L -3.36 0.941 D -0.82 0.225 N 0.044 0.024 -0.934 0.436 T 0.000 0.000 T . . . 0.192 0.112 4.598 0.769 0.113 0.031 0.080 N c -0.936 -0.705 0.999 0.387 0.632 0.406 0 5.02 0.666 0.555 0.230 0.062 0.168 0.598 0.275 0.899 0.380 9.449 0.377 . . . 0.3028 0.4106 0.4807 0.1970 0.6 0.2418 0.2152 0.2580 0.2924 0.3042 0.4130 0.4690 0.2053 0.6047 0.2380 0.2198 0.2571 het 333.36 35 1 40773149 . T C 333.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.250;DP=35;Dels=0.00;FS=10.352;HRun=1;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.417;QD=9.52;ReadPosRankSum=-0.383;VQSLOD=4.2910;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,15:35:99:363,0,618 1 40881041 40881041 C G exonic SMAP2 synonymous SNV SMAP2:NM_001198978:exon7:c.C579G:p.S193S,SMAP2:NM_001198979:exon7:c.C654G:p.S218S,SMAP2:NM_001198980:exon7:c.C429G:p.S143S,SMAP2:NM_022733:exon7:c.C669G:p.S223S 0.95 0.99 0.92 0.98 0.88 0.94 0.8978 0.9792 0.9187 0.9674 0.7856 0.8780 0.9108 0.9197 0.92 0.98 0.88 0.98 0.9 rs209606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8953 0.9803 0.9205 0.9319 0.9688 0.7807 0.8775 0.8970 0.9199 0.8990 0.9782 0.9069 0.9205 0.9815 0.7839 0.8719 0.8686 hom 5454.14 167 1 40881041 . C G 5454.14 Mask AC=2;AF=1.00;AN=2;DP=167;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8410;MQ=59.20;MQ0=0;QD=32.66;VQSLOD=9.4216;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5453,430,0 1 41204569 41204569 C T exonic NFYC synonymous SNV NFYC:NM_001308114:exon1:c.C54T:p.S18S,NFYC:NM_001142587:exon2:c.C54T:p.S18S,NFYC:NM_001142588:exon2:c.C54T:p.S18S,NFYC:NM_001142589:exon2:c.C54T:p.S18S,NFYC:NM_001308115:exon2:c.C54T:p.S18S,NFYC:NM_014223:exon2:c.C54T:p.S18S,NFYC:NM_001142590:exon7:c.C54T:p.S18S 0.48 0.42 0.51 0.47 0.59 0.44 0.5294 0.4347 0.4560 0.5043 0.5340 0.5770 0.5485 0.4579 0.54 0.45 0.58 0.47 0.58 rs1057925 COSM3751194;COSM3751193;COSM3751192 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5283 0.4313 0.4637 0.5345 0.5035 0.5364 0.5822 0.5376 0.4559 0.5174 0.4207 0.4928 0.5232 0.4851 0.5335 0.5735 0.5327 hom 3346.82 117 1 41204569 . C T 3346.82 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=28.61;VQSLOD=8.7180;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3346,262,0 1 41485902 41485902 C G exonic SLFNL1 nonsynonymous SNV SLFNL1:NM_144990:exon2:c.G431C:p.R144T,SLFNL1:NM_001168247:exon3:c.G431C:p.R144T,SLFNL1:NM_001300859:exon3:c.G431C:p.R144T 0.18 0.017 0.29 0.17 0.3 0.22 0.2750 0.0606 0.2914 0.1394 0.3147 0.3226 0.3027 0.2551 0.23 0.075 0.31 0.18 0.28 rs3738368 COSM3751197 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.946 0.554 P 0.592 0.487 P 0.045 0.236 N 0.906 0.276 P 2.045 0.562 M 0.24 0.596 T -2.3 0.511 N 0.136 0.232 -1.062 0.113 T 0.000 0.000 T . . . 0.668 0.158 8.616 0.892 0.180 0.738 0.358 D c -0.339 -0.445 1.000 0.747 0.676 0.548 0 3.77 0.423 0.181 0.166 0.059 0.165 0.006 0.172 0.232 0.224 8.589 0.327 . ENSG00000235358.1|ENSG00000171790.11|ENSG00000235358.1|ENSG00000171793.9|ENSG00000235358.1|ENSG00000235358.1 Artery_Aorta|Esophagus_Mucosa|Esophagus_Muscularis|Testis|Testis|Thyroid 0.2697 0.0557 0.2818 0.2992 0.1362 0.3148 0.3188 0.2981 0.2245 0.2280 0.0591 0.2816 0.2980 0.1173 0.3181 0.3101 0.2731 het 1570.50 140 1 41485902 . C G 1570.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.512;DP=140;Dels=0.00;FS=0.641;HRun=0;HaplotypeScore=4.7715;MQ=59.13;MQ0=0;MQRankSum=-0.560;QD=11.22;ReadPosRankSum=-0.254;VQSLOD=5.3542;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,62:140:99:1600,0,2051 1 41976328 41976328 T C exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon8:c.A7012G:p.T2338A,HIVEP3:NM_024503:exon9:c.A7015G:p.T2339A 0.96 0.87 0.99 1. 1. 1. 0.9890 0.8821 0.9950 1 0.9917 0.9986 1 0.9999 0.97 0.91 1. 0.94 0.066 rs9439043 COSM3749053 2(thyroid);9(large_intestine) Benign not_specified RCV000454706.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.392 0.132 N 1 0.090 P -0.625 0.021 N 3.44 0.054 T 0.17 0.056 N 0.014 0.004 -0.989 0.328 T 0.000 0.000 T . . . -2.816 0.002 0.001 0.135 0.003 0.003 0.018 N c -1.779 -1.664 0.992 0.328 0.615 0.372 0 2.17 0.266 0.588 0.235 -0.323 0.076 0.072 0.219 0.001 0.043 8.562 0.325 . . . 0.9926 0.8902 0.9941 0.9997 1 0.9998 0.9986 0.9938 0.9998 0.9720 0.9043 0.9868 1 1 1 0.9991 0.9918 hom 289.12 10 1 41976328 . T C 289.12 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.65;MQ0=0;QD=28.91;VQSLOD=7.4298;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:322,27,0 1 41978825 41978825 C G exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon7:c.G6067C:p.A2023P,HIVEP3:NM_024503:exon8:c.G6067C:p.A2023P 0.99 0.98 1. 1. 1. 1. 0.9986 0.9843 0.9991 1 1 1 1 1 0.99 0.98 1. 0.99 0.93 rs2483689 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.037 0.244 N 1 0.090 P -2.34 0.001 N 3.64 0.043 T 2.47 0.002 N 0.032 0.035 -0.947 0.415 T 0.000 0.000 T . . . 0.016 0.095 2.743 0.140 0.003 0.022 0.063 N c -1.094 -1.002 1.000 0.517 0.563 0.310 0 2.9 0.327 4.616 0.607 0.011 0.139 1.000 0.715 0.013 0.120 11.662 0.504 . . . 0.9988 0.9833 0.9993 1 1 1 1.0000 0.9993 1.0000 0.9952 0.9834 0.9988 1 1 1 0.9999 1 hom 3089.41 90 1 41978825 . C G 3089.41 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.21;MQ0=0;QD=34.33;VQSLOD=8.4385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3122,250,0 1 41979156 41979156 A G exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon7:c.T5736C:p.A1912A,HIVEP3:NM_024503:exon8:c.T5736C:p.A1912A 0.73 0.66 0.72 0.99 0.58 0.73 0.6687 0.6587 0.7315 0.9948 0.6662 0.6078 0.6437 0.6987 0.62 0.65 0.6 0.69 0.43 rs615177 COSM426277 1(liver);1(thyroid);1(large_intestine) Benign not_specified RCV000455876.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6689 0.6561 0.7190 0.6418 0.9962 0.6592 0.6016 0.6433 0.6945 0.6579 0.6640 0.7208 0.6324 0.9951 0.6685 0.6120 0.6585 het 484.72 33 1 41979156 . A G 484.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.284;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9895;MQ=58.15;MQ0=0;MQRankSum=0.271;QD=14.69;ReadPosRankSum=0.054;VQSLOD=4.6130;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:515,0,424 1 42046812 42046812 C T exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon3:c.G3657A:p.Q1219Q,HIVEP3:NM_024503:exon4:c.G3657A:p.Q1219Q 0.98 0.92 0.99 1. 1. 1. 0.9934 0.9329 0.9973 1 1 0.9999 0.9950 1 0.98 0.94 1. 0.99 0.8 rs2810565 . . Benign not_specified RCV000455315.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9942 0.9305 0.9971 1 1 1 0.9998 0.9974 0.9998 0.9794 0.9282 0.9988 1 1 1 0.9997 0.9949 hom 2143.53 72 1 42046812 . C T 2143.53 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9717;MQ=58.97;MQ0=0;QD=29.77;VQSLOD=8.9528;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:72:99:2177,183,0 1 42048745 42048745 T C exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon3:c.A1724G:p.H575R,HIVEP3:NM_024503:exon4:c.A1724G:p.H575R 0.99 0.96 1. 1. 1. 1. 0.9969 0.9666 0.9983 0.9998 1 0.9999 0.9967 0.9999 0.99 0.97 1. 0.94 0.97 rs2810566 COSM4143960 1(thyroid) . . . . . . . . . . . 0.391 0.108 T 0.0 0.026 B 0.0 0.013 B 0.002 0.382 N 1.000 0.205 P -1.955 0.002 N 3.57 0.047 T 0.12 0.056 N 0.032 0.043 -1.012 0.262 T 0.000 0.000 T . . . -1.316 0.022 0.004 0.445 0.034 0.168 0.194 N c -0.979 -0.702 0.997 0.348 0.651 0.465 0 2.77 0.315 1.793 0.382 0.069 0.176 1.000 0.715 0.996 0.625 7.909 0.288 . . . 0.9976 0.9663 0.9986 1 0.9999 1 0.9999 0.9984 0.9999 0.9907 0.9675 0.9988 1 1 1 0.9999 0.9990 hom 2483.45 83 1 42048745 . T C 2483.45 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7866;MQ=60.00;MQ0=0;QD=29.92;VQSLOD=8.2178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2516,217,0 1 42049032 42049032 G A exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon3:c.C1437T:p.S479S,HIVEP3:NM_024503:exon4:c.C1437T:p.S479S 0.95 0.81 0.99 1. 1. 1. 0.9868 0.8558 0.9942 1 1 0.9997 0.9900 0.9999 0.95 0.87 1. 0.94 0.98 rs2984694 COSM4143961 1(thyroid) Benign not_specified RCV000456097.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9896 0.8523 0.9940 0.9999 1 1 0.9996 0.9950 0.9996 0.9582 0.8535 0.9940 1 1 1 0.9996 0.9949 hom 4097.40 131 1 42049032 . G A 4097.40 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.85;MQ0=0;QD=31.28;VQSLOD=9.5645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4097,334,0 1 42049140 42049140 C G exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon3:c.G1329C:p.L443L,HIVEP3:NM_024503:exon4:c.G1329C:p.L443L 0.95 0.81 0.99 1. 1. 1. 0.9868 0.8558 0.9942 1 1 0.9997 0.9901 0.9999 0.95 0.87 1. 0.94 0.98 rs2475842 COSM4143962 1(thyroid) Benign not_specified RCV000454913.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9897 0.8525 0.9940 0.9998 1 1 0.9996 0.9951 0.9996 0.9583 0.8537 0.9940 1 1 1 0.9996 0.9949 hom 3342.58 103 1 42049140 . C G 3342.58 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=59.10;MQ0=0;QD=32.45;VQSLOD=9.2198;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3342,271,0 1 42050366 42050366 C T exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon3:c.G103A:p.V35I,HIVEP3:NM_024503:exon4:c.G103A:p.V35I 0.31 0.32 0.19 0.43 0.23 0.32 0.2722 0.3057 0.2128 0.4319 0.2973 0.2422 0.2998 0.3401 0.26 0.3 0.23 0.3 0.19 rs2146315 COSM1342685 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.292 0.162 T 0.0 0.026 B 0.001 0.040 B 0.318 0.041 N 1 0.090 P 0.345 0.112 N 3.41 0.056 T -0.28 0.116 N 0.017 0.075 -0.909 0.470 T 0.000 0.000 T . . . -0.559 0.052 0.157 0.792 0.122 0.034 0.084 N c -1.409 -1.423 0.981 0.301 0.563 0.310 0 -2.92 0.052 -1.015 0.037 -0.347 0.071 0.000 0.063 0.032 0.149 10.926 0.462 . . . 0.2725 0.3027 0.2155 0.3657 0.4352 0.3043 0.2337 0.2607 0.3236 0.2768 0.3066 0.2010 0.3642 0.4689 0.3063 0.2329 0.2992 het 3100.65 248 1 42050366 . C T 3100.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.991;DP=248;DS;Dels=0.00;FS=0.503;HRun=0;HaplotypeScore=7.9224;MQ=59.49;MQ0=0;MQRankSum=-1.103;QD=12.50;ReadPosRankSum=-1.761;VQSLOD=3.8029;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,121:248:99:3131,0,3294 1 42693597 42693597 A G exonic FOXJ3 nonsynonymous SNV FOXJ3:NM_001198850:exon5:c.T485C:p.V162A,FOXJ3:NM_001198852:exon5:c.T485C:p.V162A,FOXJ3:NM_014947:exon5:c.T485C:p.V162A,FOXJ3:NM_001198851:exon7:c.T485C:p.V162A 0.8 0.76 0.89 0.85 0.79 0.72 0.8034 0.7666 0.9195 0.8265 0.8168 0.8009 0.7896 0.7384 0.78 0.77 0.79 0.78 0.81 rs343376 COSM3746966 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.038 0.243 N 1.000 0.200 P 0.605 0.157 N -3.71 0.954 D 0.27 0.043 N 0.076 0.089 -0.924 0.450 T 0.000 0.000 T . . . 1.326 0.223 12.40 0.920 0.207 0.034 0.084 N c -0.647 -0.416 1.000 0.489 0.737 0.974 0 3.81 0.429 3.913 0.559 -0.326 0.075 0.999 0.424 0.989 0.536 9.486 0.379 Fork head domain|Winged helix-turn-helix DNA-binding domain . . 0.8080 0.7627 0.9109 0.8502 0.8253 0.8163 0.7944 0.8121 0.7396 0.7893 0.7628 0.8995 0.8775 0.8284 0.8227 0.7846 0.7908 hom 4464.58 160 1 42693597 . A G 4464.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.645;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3095;MQ=57.99;MQ0=0;MQRankSum=1.624;QD=27.90;ReadPosRankSum=0.346;VQSLOD=6.1818;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,159:160:99:4439,324,0 1 42880516 42880516 T C exonic RIMKLA synonymous SNV RIMKLA:NM_173642:exon5:c.T1047C:p.S349S 0.49 0.52 0.52 0.34 0.64 0.42 0.5800 0.5336 0.5578 0.3624 0.6620 0.6378 0.6200 0.4703 0.6 0.54 0.64 0.53 0.59 rs1055055 COSM146486 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5813 0.5354 0.5540 0.6983 0.3498 0.6719 0.6316 0.6152 0.4719 0.6030 0.5507 0.5430 0.6921 0.3240 0.6725 0.6489 0.6020 het 1937.46 138 1 42880516 . T C 1937.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.815;DP=138;Dels=0.00;FS=0.657;HRun=0;HaplotypeScore=1.7329;MQ=59.83;MQ0=0;MQRankSum=-0.285;QD=14.04;ReadPosRankSum=1.563;VQSLOD=6.2492;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,71:138:99:1967,0,1833 1 42898843 42898843 A G exonic ZMYND12 nonsynonymous SNV ZMYND12:NM_001146192:exon6:c.T616C:p.F206L,ZMYND12:NM_032257:exon7:c.T946C:p.F316L 0.65 0.6 0.6 0.65 0.66 0.74 0.6636 0.5921 0.5996 0.6646 0.6710 0.6665 0.6542 0.7389 0.65 0.59 0.67 0.56 0.67 rs1034268 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.75 0.000 N -0.67 0.725 T 2.99 0.001 N 0.143 0.168 -0.916 0.461 T 0.000 0.000 T . . . 1.615 0.256 13.93 0.654 0.076 0.043 0.097 N c -0.912 -0.567 0.590 0.216 0.554 0.283 0 4.8 0.610 2.292 0.430 0.138 0.222 1.000 0.715 0.997 0.653 7.992 0.292 Tetratricopeptide-like helical domain ENSG00000164008.9|ENSG00000177868.7|ENSG00000171960.6 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.6631 0.5896 0.6009 0.6806 0.6677 0.6634 0.6688 0.6447 0.7405 0.6487 0.5876 0.5947 0.6358 0.6894 0.6720 0.6762 0.6691 hom 7137.91 222 1 42898843 . A G 7137.91 Mask AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1526;MQ=59.14;MQ0=0;QD=32.15;VQSLOD=9.4866;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:7137,545,0 1 42915727 42915727 C G exonic ZMYND12 synonymous SNV ZMYND12:NM_032257:exon2:c.G114C:p.G38G 0.28 0.18 0.16 0.44 0.19 0.46 0.2358 0.1819 0.1278 0.4054 0.1705 0.1974 0.2390 0.4380 0.19 0.19 0.2 0.28 0.15 rs12047095 COSM3751200 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2325 0.1806 0.1358 0.1856 0.4113 0.1682 0.2021 0.2131 0.4379 0.1992 0.1842 0.1376 0.1788 0.4321 0.1724 0.1920 0.2118 het 2089.84 177 1 42915727 . C G 2089.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.099;DP=177;Dels=0.00;FS=0.587;HRun=0;HaplotypeScore=3.2293;MQ=59.66;MQ0=0;MQRankSum=0.558;QD=11.81;ReadPosRankSum=-0.773;VQSLOD=6.0644;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,81:177:99:2120,0,2595 1 43042703 43042703 C T exonic CCDC30 synonymous SNV CCDC30:NM_001080850:exon7:c.C868T:p.L290L 0.29 0.18 0.16 0.46 0.19 0.45 0.2373 0.1837 0.1268 0.4208 0.1399 0.2009 0.2404 0.4368 0.19 0.18 0.2 0.27 0.15 rs12049046 COSM4416594;COSM3751201 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2291 0.1790 0.1337 0.1864 0.4239 0.1379 0.2014 0.2085 0.4338 0.1954 0.1842 0.1343 0.1854 0.4428 0.1433 0.1905 0.2045 het 845.36 60 1 43042703 . C T 845.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.675;DP=60;Dels=0.00;FS=7.892;HRun=1;HaplotypeScore=2.7855;MQ=58.96;MQ0=0;MQRankSum=0.862;QD=14.09;ReadPosRankSum=-0.267;VQSLOD=5.0236;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,33:60:99:875,0,642 1 43047057 43047057 A G exonic CCDC30 synonymous SNV CCDC30:NM_001080850:exon8:c.A1092G:p.E364E 0.28 0.17 0.15 0.44 0.19 0.45 0.2318 0.1777 0.1220 0.3996 0.1390 0.1968 0.2351 0.4336 0.19 0.18 0.2 0.24 0.14 rs12037518 COSM4419053;COSM4419052 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2266 0.1743 0.1291 0.1881 0.4052 0.1377 0.2022 0.2062 0.4368 0.1925 0.1789 0.1265 0.1854 0.4225 0.1429 0.1906 0.1994 het 1529.04 111 1 43047057 . A G 1529.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.468;DP=111;Dels=0.00;FS=0.714;HRun=0;HaplotypeScore=0.9979;MQ=58.78;MQ0=0;MQRankSum=0.416;QD=13.78;ReadPosRankSum=1.414;VQSLOD=5.8353;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,58:111:99:1559,0,1310 1 43119661 43119661 C A exonic CCDC30 nonsynonymous SNV CCDC30:NM_001080850:exon16:c.C2314A:p.H772N 0.075 0.19 0.039 0.001 0.033 0.07 0.0449 0.1626 0.0299 0.0015 0.0219 0.0344 0.0376 0.0560 0.077 0.15 0.037 0.065 0.016 rs16829829 . . . . . . . . . . . . . 0.015 0.524 D 0.007 0.131 B 0.005 0.104 B 0.880 0.088 N 1 0.090 P 1.3 0.327 L 0.86 0.468 T -0.56 0.253 N 0.023 0.047 -1.064 0.108 T 0.000 0.002 T . . . 0.536 0.145 7.698 0.786 0.119 0.055 0.112 N c -0.888 -0.906 0.000 0.053 0.554 0.246 0 1.38 0.212 -0.129 0.104 0.852 0.362 0.000 0.063 0.407 0.255 4.642 0.119 . . . 0.0424 0.1669 0.0301 0.0537 0.0018 0.0216 0.0351 0.0427 0.0547 0.0655 0.1602 0.0203 0.0397 0.0012 0.0252 0.0317 0.0378 het 494.95 49 1 43119661 . C A 494.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.000;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4923;MQ=59.24;MQ0=0;MQRankSum=-0.980;QD=10.10;ReadPosRankSum=0.333;VQSLOD=6.2082;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,21:49:99:525,0,809 1 43201614 43201614 C T exonic CLDN19 nonsynonymous SNV CLDN19:NM_001185117:exon3:c.G476A:p.R159Q 0.052 0.1 0.039 0.001 0.04 0.06 0.0772 0.1241 0.1033 0.0019 0.0790 0.0794 0.0720 0.0655 0.058 0.09 0.041 0.065 . rs9660973 COSM4783690;COSM3751202 1(large_intestine) Likely benign Renal_Hypomagnesemia\x2c_Recessive RCV000336220.1 MedGen CN239444 . . . . . . 0.164 0.233 T 0.003 0.102 B 0.001 0.040 B . . . 0.985 0.402 D . . . -2.15 0.865 D -0.62 0.183 N . . -0.901 0.479 T 0.019 0.078 T . . . 1.536 0.247 13.51 0.950 0.254 0.045 0.100 N c -1.525 -1.674 1.000 0.747 0.696 0.567 0 -8.62 0.008 -2.394 0.011 -1.740 0.007 0.001 0.137 0.047 0.162 2.721 0.048 . ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0426 0.0966 0.0368 0.0614 0.0018 0.0263 0.0414 0.0513 0.0551 0.0496 0.0943 0.0263 0.0464 0.0012 0.0326 0.0349 0.0380 het 182.77 10 1 43201614 . C T 182.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.580;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.546;QD=18.28;ReadPosRankSum=1.386;VQSLOD=12.2915;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:45.39:213,0,45 1 43212926 43212926 G A exonic P3H1 nonsynonymous SNV P3H1:NM_001146289:exon14:c.C2072T:p.A691V,P3H1:NM_001243246:exon14:c.C2072T:p.A691V 0.062 0.14 0.039 0.001 0.04 0.06 0.0473 0.1347 0.0370 0.0016 0.0281 0.0414 0.0465 0.0553 0.074 0.13 0.044 0.098 0.033 rs67014447 COSM3751203 1(large_intestine) Benign not_specified RCV000425880.1 MedGen CN169374 . . . . . . 1.0 0.912 T . . . . . . . . . 1 0.090 N . . . 1.2 0.374 T 1.24 0.102 N 0.025 0.028 -1.031 0.201 T 0.001 0.003 T . . . 0.773 0.168 9.299 0.697 0.088 0.010 0.038 N c -0.887 -1.129 1.000 0.747 0.778 0.996 0 . . -0.462 0.067 0.000 0.135 0.010 0.182 0.016 0.126 . . . ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0455 0.1363 0.0380 0.0615 0.0019 0.0264 0.0416 0.0526 0.0549 0.0588 0.1260 0.0286 0.0467 0.0012 0.0323 0.0354 0.0399 het 1651.13 120 1 43212926 . G A 1651.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.837;DP=120;Dels=0.00;FS=6.984;HRun=0;HaplotypeScore=5.2998;MQ=59.81;MQ0=0;MQRankSum=-1.231;QD=13.76;ReadPosRankSum=0.896;VQSLOD=3.8705;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,62:120:99:1681,0,1568 1 43223489 43223489 C T exonic P3H1 nonsynonymous SNV P3H1:NM_001146289:exon5:c.G1045A:p.G349R,P3H1:NM_001243246:exon5:c.G1045A:p.G349R,P3H1:NM_022356:exon5:c.G1045A:p.G349R 0.055 0.11 0.039 0.001 0.039 0.061 0.0448 0.1086 0.0364 0.0016 0.0281 0.0410 0.0419 0.0555 0.066 0.11 0.043 0.076 0.033 rs6700677 COSM1342736;COSM1342737 2(soft_tissue);1(large_intestine) Benign not_specified RCV000443398.1 MedGen CN169374 . . . . . . 0.002 0.721 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1 0.810 D 3.235 0.898 M -1.66 0.827 D -4.54 0.810 D 0.338 0.539 -0.536 0.673 T 0.067 0.276 T . . . 6.532 0.900 31 0.999 0.997 0.991 0.908 D c 0.841 0.781 1.000 0.747 0.719 0.830 0 5.84 0.934 7.568 0.814 0.935 0.490 1.000 0.715 0.762 0.325 17.643 0.880 Tetratricopeptide-like helical domain ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0436 0.1100 0.0371 0.0614 0.0019 0.0265 0.0413 0.0512 0.0552 0.0516 0.1012 0.0263 0.0464 0.0012 0.0323 0.0351 0.0387 het 3104.18 245 1 43223489 . C T 3104.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.181;DP=245;DS;Dels=0.00;FS=1.600;HRun=0;HaplotypeScore=2.5598;MQ=59.48;MQ0=0;MQRankSum=-1.291;QD=12.67;ReadPosRankSum=0.011;VQSLOD=6.2099;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:131,114:245:99:3134,0,3674 1 43232504 43232504 C A exonic P3H1 nonsynonymous SNV P3H1:NM_001146289:exon1:c.G139T:p.A47S,P3H1:NM_001243246:exon1:c.G139T:p.A47S,P3H1:NM_022356:exon1:c.G139T:p.A47S 0.04 0.079 0.022 0.001 0.026 0.053 0.0327 0.0842 0.0234 0.0018 0.0196 0.0294 0.0287 0.0465 0.042 0.068 0.03 . 0.016 rs55716016 . . Benign not_specified RCV000432456.1 MedGen CN169374 . . . . . . 0.387 0.117 T 0.047 0.206 B 0.02 0.179 B 0.023 0.266 N 0.983 0.249 N 1.115 0.288 L 1.22 0.370 T -0.34 0.138 N 0.05 0.198 -1.056 0.127 T 0.004 0.013 T . . . 2.784 0.396 21.3 0.942 0.239 0.186 0.201 N c -0.485 -0.312 1.000 0.747 0.442 0.072 0 3.23 0.360 0.206 0.170 -0.018 0.130 0.994 0.380 0.991 0.552 9.280 0.367 . ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0309 0.0794 0.0219 0.0389 0.0018 0.0176 0.0293 0.0350 0.0448 0.0372 0.0725 0.0143 0.0265 0.0012 0.0221 0.0263 0.0275 het 777.96 57 1 43232504 . C A 777.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.752;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7006;MQ=59.27;MQ0=0;MQRankSum=-0.850;QD=13.65;ReadPosRankSum=-1.613;VQSLOD=4.7903;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,30:57:99:808,0,712 1 43296173 43296173 C T exonic ERMAP synonymous SNV ERMAP:NM_018538:exon2:c.C54T:p.L18L,ERMAP:NM_001017922:exon3:c.C54T:p.L18L 0.15 0.092 0.26 0.0099 0.25 0.17 0.2226 0.1126 0.2738 0.0168 0.3550 0.2550 0.2291 0.1797 0.2 0.12 0.24 0.065 0.26 rs33950227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2253 0.1100 0.2698 0.1777 0.0162 0.3543 0.2520 0.2274 0.1760 0.2193 0.1103 0.2608 0.1633 0.0099 0.3594 0.2684 0.2679 het 1813.93 163 1 43296173 . C T 1813.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.727;DP=163;Dels=0.00;FS=3.637;HRun=1;HaplotypeScore=0.9983;MQ=59.73;MQ0=0;MQRankSum=0.566;QD=11.13;ReadPosRankSum=0.690;VQSLOD=6.2213;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,77:163:99:1844,0,2131 1 43296195 43296195 C T exonic ERMAP nonsynonymous SNV ERMAP:NM_018538:exon2:c.C76T:p.H26Y,ERMAP:NM_001017922:exon3:c.C76T:p.H26Y 0.14 0.023 0.27 0.0099 0.3 0.19 0.2414 0.0597 0.2886 0.0170 0.3735 0.2876 0.2467 0.2007 0.21 0.07 0.28 0.076 0.26 rs33953680 . . . . . . . . . . . . . 0.638 0.050 T 0.985 0.592 D 0.657 0.509 P 0.247 0.036 N 1 0.090 P 0.55 0.145 N 0.9 0.453 T -1.04 0.273 N 0.041 0.041 -1.031 0.200 T 0.000 0.000 T . . . -1.398 0.019 0.003 0.541 0.050 0.033 0.082 N c -1.083 -1.126 0.984 0.305 0.615 0.372 0 0.706 0.172 -0.177 0.097 -0.717 0.036 0.000 0.063 0.000 0.016 8.39 0.315 Immunoglobulin-like domain ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000228452.1|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.2459 0.0567 0.2870 0.2030 0.0163 0.3747 0.2863 0.2536 0.1964 0.2218 0.0557 0.2758 0.1821 0.0105 0.3778 0.2982 0.2914 het 1540.22 141 1 43296195 . C T 1540.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.565;DP=141;Dels=0.00;FS=0.677;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.013;QD=10.92;ReadPosRankSum=-0.865;VQSLOD=5.9588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,66:141:99:1570,0,2115 1 43618596 43618596 G A exonic FAM183A synonymous SNV FAM183A:NM_001101376:exon3:c.G291A:p.E97E 0.12 0.058 0.15 . 0.28 0.14 0.2376 0.0823 0.1329 0.0006 0.2822 0.3006 0.2493 0.2231 0.19 0.069 0.25 0.14 . rs12074551 COSM4143978;COSM4143977 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2014 0.0670 0.1093 0.2913 0.0004 0.2520 0.2621 0.2169 0.1940 0.1800 0.0689 0.1100 0.2682 0.0006 0.2436 0.2486 0.2235 het 398.24 37 1 43618596 . G A 398.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.817;DP=37;Dels=0.00;FS=4.357;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.751;QD=10.76;ReadPosRankSum=-0.628;VQSLOD=5.6334;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,16:37:99:428,0,576 1 43632536 43632536 C T exonic EBNA1BP2 nonsynonymous SNV EBNA1BP2:NM_006824:exon7:c.G668A:p.R223H,EBNA1BP2:NM_001159936:exon8:c.G833A:p.R278H 0.14 0.13 0.15 . 0.29 0.14 0.2105 0.1163 0.0998 0.0005 0.2565 0.2707 0.2225 0.1955 0.21 0.12 0.26 0.17 0.27 rs7163 . . . . . . . . . . . . . 0.122 0.315 T 0.864 0.455 P 0.357 0.413 B 0.256 0.037 N 1 0.090 P 0.625 0.159 N 0.94 0.437 T -0.76 0.212 N 0.037 0.061 -1.067 0.101 T 0.000 0.000 T . . . 1.028 0.192 10.82 0.970 0.315 0.241 0.221 N c -0.958 -1.090 0.000 0.053 0.707 0.730 0 -1.47 0.083 0.151 0.160 -1.161 0.017 0.000 0.063 0.000 0.016 1.375 0.021 . ENSG00000186973.6|ENSG00000186973.6|ENSG00000243710.3 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Testis 0.2066 0.1138 0.1099 0.2921 0.0004 0.2519 0.2664 0.2224 0.1928 0.1946 0.1150 0.1184 0.2682 0.0006 0.2435 0.2508 0.2316 het 2118.44 159 1 43632536 . C T 2118.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.762;DP=159;Dels=0.00;FS=2.070;HRun=0;HaplotypeScore=9.6164;MQ=59.05;MQ0=0;MQRankSum=0.269;QD=13.32;ReadPosRankSum=0.087;VQSLOD=4.2575;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,87:159:99:2148,0,1673 1 43636484 43636484 C G exonic EBNA1BP2 synonymous SNV EBNA1BP2:NM_006824:exon4:c.G390C:p.T130T,EBNA1BP2:NM_001159936:exon5:c.G555C:p.T185T 0.14 0.13 0.15 . 0.29 0.14 0.2106 0.1170 0.0998 0.0005 0.2565 0.2708 0.2225 0.1956 0.21 0.12 0.26 0.17 0.27 rs1049276 COSM5021272;COSM5021271 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2057 0.1125 0.1045 0.2921 0.0003 0.2515 0.2645 0.2196 0.1921 0.1950 0.1162 0.1181 0.2682 0.0006 0.2451 0.2506 0.2312 het 4086.72 250 1 43636484 . C G 4086.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.316;DP=250;DS;Dels=0.00;FS=3.621;HRun=1;HaplotypeScore=5.5380;MQ=59.18;MQ0=0;MQRankSum=-1.072;QD=16.35;ReadPosRankSum=0.137;VQSLOD=3.6839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3430,0,3492 1 43638457 43638457 T A exonic CFAP57 synonymous SNV CFAP57:NM_001167965:exon2:c.T33A:p.V11V,CFAP57:NM_001195831:exon2:c.T33A:p.V11V,CFAP57:NM_152498:exon2:c.T33A:p.V11V 0.14 0.13 0.15 . 0.29 0.15 0.2109 0.1177 0.1000 0.0005 0.2564 0.2709 0.2225 0.1965 0.21 0.12 0.26 0.17 0.2 rs1782387 COSM5618806 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2081 0.1155 0.1122 0.2945 0.0003 0.2522 0.2674 0.2241 0.1975 0.1949 0.1165 0.1196 0.2667 0.0006 0.2453 0.2505 0.2279 het 818.85 75 1 43638457 . T A 818.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.136;DP=75;Dels=0.00;FS=0.905;HRun=0;HaplotypeScore=1.9321;MQ=58.88;MQ0=0;MQRankSum=0.759;QD=10.92;ReadPosRankSum=-0.653;VQSLOD=6.3086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,35:75:99:849,0,1090 1 43649508 43649508 A G exonic CFAP57 nonsynonymous SNV CFAP57:NM_001167965:exon4:c.A721G:p.N241D,CFAP57:NM_001195831:exon4:c.A721G:p.N241D,CFAP57:NM_152498:exon4:c.A721G:p.N241D 0.52 0.84 0.51 0.32 0.41 0.41 0.4499 0.7761 0.5360 0.2788 0.4531 0.4064 0.4680 0.4471 0.52 0.76 0.4 0.62 0.41 rs663824 COSM3751212 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.453 0.089 T 0.0 0.026 B 0.0 0.040 B 0.268 0.038 N 1 0.090 P -0.895 0.014 N 3.31 0.063 T 0.71 0.030 N 0.04 0.041 -1.047 0.152 T 0.000 0.000 T . . . -2.100 0.007 0.001 0.450 0.035 0.112 0.163 N c -1.890 -1.858 0.000 0.029 0.447 0.083 0 -3.6 0.043 0.635 0.241 -1.119 0.018 0.000 0.063 0.001 0.043 2.883 0.053 WD40/YVTN repeat-like-containing domain ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis 0.4451 0.7818 0.5198 0.4517 0.2780 0.4520 0.4005 0.4328 0.4464 0.5023 0.7768 0.5120 0.4536 0.2866 0.4407 0.3867 0.4150 het 2394.77 238 1 43649508 . A G 2394.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.884;DP=238;DS;Dels=0.00;FS=4.802;HRun=0;HaplotypeScore=7.8911;MQ=59.55;MQ0=0;MQRankSum=-1.702;QD=10.06;ReadPosRankSum=0.024;VQSLOD=3.4667;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,98:238:99:2425,0,4038 1 43664218 43664218 C T exonic CFAP57 synonymous SNV CFAP57:NM_001167965:exon8:c.C1329T:p.H443H,CFAP57:NM_001195831:exon8:c.C1329T:p.H443H,CFAP57:NM_152498:exon8:c.C1329T:p.H443H 0.2 0.28 0.21 0.002 0.32 0.17 0.2530 0.2537 0.1946 0.0007 0.3059 0.2968 0.2704 0.2262 0.27 0.25 0.29 0.23 0.3 rs603123 COSM3751213 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2504 0.2527 0.1995 0.3021 0.0005 0.3015 0.2945 0.2632 0.2290 0.2566 0.2544 0.2160 0.2947 0.0012 0.2941 0.2776 0.2658 het 1286.15 99 1 43664218 . C T 1286.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.397;DP=99;Dels=0.00;FS=0.751;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.844;QD=12.99;ReadPosRankSum=-0.298;VQSLOD=6.2261;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,48:99:99:1316,0,1348 1 43675467 43675467 G A exonic CFAP57 synonymous SNV CFAP57:NM_001167965:exon11:c.G1809A:p.S603S,CFAP57:NM_001195831:exon11:c.G1809A:p.S603S,CFAP57:NM_152498:exon11:c.G1809A:p.S603S 0.69 0.54 0.68 0.68 0.89 0.73 0.7914 0.5675 0.5902 0.7230 0.8183 0.8774 0.7896 0.7506 0.77 0.57 0.88 0.66 0.84 rs2453412 COSM5438325 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7896 0.5617 0.6140 0.9164 0.7221 0.8180 0.8762 0.8218 0.7518 0.7614 0.5519 0.6348 0.8974 0.7125 0.8206 0.8745 0.8255 hom 3902.26 128 1 43675467 . G A 3902.26 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1949;MQ=59.16;MQ0=0;QD=30.49;VQSLOD=7.7157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:3902,307,0 1 43784956 43784956 A G exonic TIE1 synonymous SNV TIE1:NM_001253357:exon18:c.A2838G:p.L946L,TIE1:NM_005424:exon18:c.A2973G:p.L991L 0.23 0.18 0.36 0.15 0.38 0.11 0.3112 0.1949 0.2954 0.1513 0.3411 0.3834 0.3436 0.1733 0.33 0.21 0.39 0.32 0.39 rs1199039 COSM4143981 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3163 0.1936 0.3104 0.4247 0.1453 0.3389 0.3850 0.3494 0.1735 0.3011 0.1964 0.3122 0.4106 0.1326 0.3217 0.3715 0.3172 hom 4550.83 143 1 43784956 . A G 4550.83 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.293;DP=143;Dels=0.00;FS=3.301;HRun=1;HaplotypeScore=1.6006;MQ=59.08;MQ0=0;MQRankSum=-0.488;QD=31.82;ReadPosRankSum=-1.513;VQSLOD=4.2927;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,142:143:99:4514,313,0 1 43825644 43825644 T C exonic CDC20 synonymous SNV CDC20:NM_001255:exon5:c.T432C:p.Y144Y 0.23 0.24 0.37 0.11 0.37 0.091 0.3069 0.2682 0.2878 0.0981 0.3326 0.3782 0.3337 0.1539 0.35 0.28 0.38 0.3 0.39 rs839763 COSM3997534 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3103 0.2675 0.3047 0.4141 0.0928 0.3314 0.3796 0.3463 0.1531 0.3133 0.2649 0.3165 0.4133 0.0827 0.3120 0.3644 0.3136 hom 8663.18 241 1 43825644 . T C 8663.18 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0069;MQ=59.39;MQ0=0;QD=35.95;VQSLOD=7.6720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:8662,692,0 1 43886494 43886494 C T exonic SZT2 nonsynonymous SNV SZT2:NM_015284:exon10:c.C1336T:p.P446S 0.2 0.1 0.38 0.082 0.42 0.093 0.3191 0.1332 0.3049 0.0706 0.4026 0.4135 0.3515 0.1548 0.34 0.15 0.42 0.26 . rs2782643 COSM4143983 1(thyroid) Benign not_specified RCV000247399.1 MedGen CN169374 . . . . . . 0.192 0.210 T 0.005 0.119 B 0.006 0.112 B . . . 0.995 0.233 P 0.145 0.088 N . . . -1.82 0.427 N 0.096 0.097 . . . . . . . . . 3.387 0.465 23.0 0.998 0.880 0.747 0.363 D n 1.283 0.048 0.990 0.319 0.707 0.730 0 4.56 0.555 1.446 0.345 0.032 0.150 0.768 0.291 0.998 0.697 10.643 0.446 . ENSG00000159479.12|ENSG00000066056.9|ENSG00000178922.12|ENSG00000159479.12|ENSG00000178922.12|ENSG00000229431.1|ENSG00000178922.12|ENSG00000229431.1|ENSG00000066056.9|ENSG00000066056.9|ENSG00000178922.12|ENSG00000229431.1|ENSG00000159479.12|ENSG00000066056.9|ENSG00000159479.12|ENSG00000229431.1|ENSG00000229431.1|ENSG00000159479.12|ENSG00000159479.12|ENSG00000178922.12|ENSG00000229431.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.3217 0.1306 0.3219 0.4365 0.0661 0.4010 0.4146 0.3683 0.1537 0.2996 0.1354 0.3294 0.4238 0.0543 0.3782 0.3966 0.3429 hom 6891.32 211 1 43886494 . C T 6891.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.090;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9402;MQ=59.09;MQ0=0;MQRankSum=0.747;QD=32.66;ReadPosRankSum=1.338;VQSLOD=9.0168;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,210:211:99:6854,530,0 1 43906896 43906896 A G exonic SZT2 synonymous SNV SZT2:NM_015284:exon52:c.A7185G:p.E2395E 0.2 0.088 0.38 0.082 0.42 0.095 0.3184 0.1210 0.3082 0.0717 0.4029 0.4136 0.3562 0.1560 0.32 0.13 0.41 0.29 0.36 rs2027130 COSM3751218;COSM3751219;COSM3751217 1(large_intestine) Benign not_specified RCV000253624.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3249 0.1151 0.3237 0.4350 0.0664 0.3979 0.4147 0.3699 0.1539 0.2956 0.1217 0.3329 0.4238 0.0543 0.3782 0.3964 0.3378 hom 6724.83 199 1 43906896 . A G 6724.83 Mask AC=2;AF=1.00;AN=2;DP=199;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4481;MQ=59.49;MQ0=0;QD=33.79;VQSLOD=8.6695;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,199:199:99:6724,530,0 1 43917637 43917637 G A exonic HYI synonymous SNV HYI:NM_001190880:exon4:c.C474T:p.D158D,HYI:NM_031207:exon4:c.C474T:p.D158D,HYI:NM_001243526:exon5:c.C549T:p.D183D,HYI:NM_001330526:exon5:c.C549T:p.D183D 0.22 0.19 0.39 0.078 0.42 0.097 0.3291 0.2207 0.3139 0.0694 0.4031 0.4148 0.3666 0.1602 0.35 0.23 0.41 0.3 0.37 rs2251802 COSM3751221;COSM4785149;COSM3751220 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3319 0.2196 0.3293 0.4339 0.0644 0.3977 0.4147 0.3737 0.1550 0.3242 0.2194 0.3389 0.4238 0.0544 0.3782 0.3979 0.3432 hom 1601.82 52 1 43917637 . G A 1601.82 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;QD=30.80;VQSLOD=9.0712;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1635,135,0 1 44035352 44035352 C T exonic PTPRF synonymous SNV PTPRF:NM_001329139:exon6:c.C471T:p.A157A,PTPRF:NM_001329140:exon6:c.C471T:p.A157A,PTPRF:NM_002840:exon6:c.C471T:p.A157A,PTPRF:NM_130440:exon6:c.C471T:p.A157A,PTPRF:NM_001329137:exon7:c.C471T:p.A157A,PTPRF:NM_001329138:exon7:c.C471T:p.A157A 0.22 0.036 0.24 0.29 0.31 0.3 0.2820 0.0738 0.2666 0.3400 0.3424 0.3078 0.2742 0.2660 0.23 0.084 0.31 0.12 0.26 rs1065771 COSM3751223 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2868 0.0678 0.2625 0.2738 0.3423 0.3464 0.3097 0.2866 0.2688 0.2553 0.0671 0.2542 0.2715 0.3550 0.3312 0.3335 0.2971 het 1522.18 99 1 44035352 . C T 1522.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.150;DP=99;Dels=0.00;FS=0.761;HRun=0;HaplotypeScore=1.9883;MQ=59.77;MQ0=0;MQRankSum=-0.039;QD=15.38;ReadPosRankSum=-0.361;VQSLOD=6.5618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,52:99:99:1552,0,1213 1 44058265 44058265 C A exonic PTPRF synonymous SNV PTPRF:NM_001329139:exon11:c.C1806A:p.A602A,PTPRF:NM_001329140:exon11:c.C1806A:p.A602A,PTPRF:NM_002840:exon11:c.C1806A:p.A602A,PTPRF:NM_130440:exon11:c.C1806A:p.A602A,PTPRF:NM_001329137:exon13:c.C1824A:p.A608A,PTPRF:NM_001329138:exon14:c.C1836A:p.A612A 0.45 0.46 0.32 0.56 0.4 0.46 0.4199 0.4642 0.3223 0.5746 0.4258 0.4044 0.4052 0.4424 0.42 0.46 0.4 0.36 0.43 rs3828151 COSM3751224;COSM3751225 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4131 0.4585 0.3233 0.3589 0.5835 0.4362 0.4049 0.3957 0.4231 0.4357 0.4585 0.3337 0.3411 0.5933 0.4138 0.4185 0.4296 het 1213.68 75 1 44058265 . C A 1213.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.429;DP=75;Dels=0.00;FS=1.018;HRun=0;HaplotypeScore=1.8653;MQ=60.00;MQ0=0;MQRankSum=0.319;QD=16.18;ReadPosRankSum=0.178;VQSLOD=6.3688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,45:75:99:1244,0,763 1 44071221 44071221 G A exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon16:c.G2499A:p.V833V,PTPRF:NM_001329139:exon17:c.G2526A:p.V842V,PTPRF:NM_130440:exon18:c.G3384A:p.V1128V,PTPRF:NM_001329137:exon19:c.G2544A:p.V848V,PTPRF:NM_002840:exon19:c.G3411A:p.V1137V,PTPRF:NM_001329138:exon20:c.G2556A:p.V852V 0.6 0.43 0.54 0.76 0.74 0.58 0.6949 0.4688 0.5015 0.7793 0.7870 0.7712 0.7029 0.5835 0.67 0.47 0.77 0.54 0.7 rs631248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6935 0.4554 0.5133 0.7147 0.7830 0.7944 0.7738 0.7036 0.5859 0.6831 0.4612 0.5431 0.68 0.7877 0.7756 0.7832 0.7418 hom 1875.37 63 1 44071221 . G A 1875.37 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.26;MQ0=0;QD=29.77;VQSLOD=8.3637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1908,162,0 1 44072018 44072018 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon17:c.C2679T:p.T893T,PTPRF:NM_001329139:exon18:c.C2706T:p.T902T,PTPRF:NM_130440:exon19:c.C3564T:p.T1188T,PTPRF:NM_001329137:exon20:c.C2724T:p.T908T,PTPRF:NM_002840:exon20:c.C3591T:p.T1197T,PTPRF:NM_001329138:exon21:c.C2736T:p.T912T 0.28 0.037 0.27 0.47 0.36 0.33 0.3235 0.0817 0.2875 0.4829 0.3924 0.3490 0.3095 0.2882 0.26 0.095 0.35 0.16 0.3 rs1065772 COSM3751227;COSM3751226 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3292 0.0743 0.2826 0.3358 0.4919 0.3953 0.3494 0.3336 0.2920 0.2939 0.0745 0.2816 0.3167 0.4969 0.3818 0.3764 0.3436 het 2672.13 250 1 44072018 . C T 2672.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.677;DP=250;DS;Dels=0.00;FS=4.498;HRun=3;HaplotypeScore=6.5958;MQ=59.39;MQ0=0;MQRankSum=-0.959;QD=10.69;ReadPosRankSum=-0.374;VQSLOD=4.3686;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:145,105:250:99:2702,0,3989 1 44072066 44072066 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon17:c.C2727T:p.P909P,PTPRF:NM_001329139:exon18:c.C2754T:p.P918P,PTPRF:NM_130440:exon19:c.C3612T:p.P1204P,PTPRF:NM_001329137:exon20:c.C2772T:p.P924P,PTPRF:NM_002840:exon20:c.C3639T:p.P1213P,PTPRF:NM_001329138:exon21:c.C2784T:p.P928P 0.28 0.03 0.28 0.47 0.36 0.34 0.3300 0.0782 0.2955 0.4824 0.3837 0.3587 0.3117 0.2971 0.27 0.094 0.36 0.16 0.33 rs10890266 COSM3751228;COSM3751229 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3360 0.0710 0.2940 0.3374 0.4917 0.3861 0.3602 0.341 0.3013 0.2977 0.0715 0.2931 0.3179 0.4988 0.3685 0.3872 0.3520 het 2508.20 244 1 44072066 . C T 2508.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.657;DP=244;DS;Dels=0.00;FS=2.238;HRun=0;HaplotypeScore=11.3624;MQ=59.41;MQ0=0;MQRankSum=-0.614;QD=10.28;ReadPosRankSum=0.277;VQSLOD=3.4700;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,102:244:99:2538,0,3680 1 44083507 44083507 T C exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon22:c.T3384C:p.G1128G,PTPRF:NM_001329139:exon24:c.T3444C:p.G1148G,PTPRF:NM_130440:exon24:c.T4269C:p.G1423G,PTPRF:NM_002840:exon25:c.T4296C:p.G1432G,PTPRF:NM_001329137:exon26:c.T3462C:p.G1154G,PTPRF:NM_001329138:exon28:c.T3486C:p.G1162G 0.74 0.95 0.58 0.76 0.72 0.56 0.7188 0.9244 0.5132 0.7858 0.7432 0.7493 0.7135 0.5655 0.81 0.92 0.75 0.74 0.54 rs641365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7084 0.9252 0.5264 0.7099 0.7911 0.7486 0.7506 0.7074 0.5700 0.7974 0.9179 0.5658 0.6556 0.8017 0.7279 0.7631 0.7290 hom 1894.12 65 1 44083507 . T C 1894.12 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=29.14;VQSLOD=8.9142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1927,162,0 1 44083519 44083519 G A exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon22:c.G3396A:p.R1132R,PTPRF:NM_001329139:exon24:c.G3456A:p.R1152R,PTPRF:NM_130440:exon24:c.G4281A:p.R1427R,PTPRF:NM_002840:exon25:c.G4308A:p.R1436R,PTPRF:NM_001329137:exon26:c.G3474A:p.R1158R,PTPRF:NM_001329138:exon28:c.G3498A:p.R1166R 0.74 0.95 0.58 0.76 0.72 0.56 0.7185 0.9244 0.5125 0.7853 0.7428 0.7491 0.7118 0.5655 0.81 0.92 0.75 0.74 0.52 rs641351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7082 0.9253 0.5264 0.7099 0.7909 0.7484 0.7505 0.7076 0.5700 0.7968 0.9178 0.5644 0.6556 0.8004 0.7275 0.7624 0.7276 hom 2130.37 64 1 44083519 . G A 2130.37 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=60.00;MQ0=0;QD=33.29;VQSLOD=8.9945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2163,175,0 1 44084739 44084739 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon24:c.C3600T:p.R1200R,PTPRF:NM_001329139:exon26:c.C3660T:p.R1220R,PTPRF:NM_130440:exon26:c.C4485T:p.R1495R,PTPRF:NM_002840:exon27:c.C4512T:p.R1504R,PTPRF:NM_001329137:exon28:c.C3678T:p.R1226R,PTPRF:NM_001329138:exon30:c.C3702T:p.R1234R 0.74 0.95 0.58 0.76 0.72 0.56 0.7192 0.9245 0.5135 0.7866 0.7420 0.7497 0.7137 0.5662 0.81 0.92 0.75 0.75 0.68 rs1143701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7087 0.9251 0.5269 0.7137 0.7913 0.7487 0.7508 0.7083 0.5700 0.7969 0.9179 0.5658 0.6689 0.8011 0.7273 0.7623 0.7285 hom 4826.02 155 1 44084739 . C T 4826.02 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.44;MQ0=0;QD=31.14;VQSLOD=7.3904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:155:99:4825,388,0 1 44086831 44086831 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon30:c.C4671T:p.Y1557Y,PTPRF:NM_001329139:exon32:c.C4731T:p.Y1577Y,PTPRF:NM_130440:exon32:c.C5556T:p.Y1852Y,PTPRF:NM_002840:exon33:c.C5583T:p.Y1861Y,PTPRF:NM_001329137:exon34:c.C4749T:p.Y1583Y,PTPRF:NM_001329138:exon36:c.C4773T:p.Y1591Y 0.57 0.55 0.5 0.69 0.64 0.45 0.6132 0.5728 0.4670 0.7087 0.6619 0.6689 0.6069 0.4467 0.64 0.58 0.67 0.58 0.55 rs1143702 COSM3773502;COSM3773501 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6103 0.5711 0.4741 0.6517 0.7136 0.6640 0.6694 0.6250 0.4513 0.6435 0.5621 0.4916 0.6067 0.7244 0.6450 0.6927 0.6184 hom 2145.85 66 1 44086831 . C T 2145.85 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.51;VQSLOD=14.1011;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2179,178,0 1 44137257 44137257 C A exonic KDM4A nonsynonymous SNV KDM4A:NM_014663:exon11:c.C1445A:p.A482E 0.74 0.95 0.56 0.79 0.7 0.57 0.7111 0.9262 0.5041 0.8116 0.7344 0.7309 0.6940 0.5758 0.79 0.92 0.73 0.74 0.68 rs586339 COSM4143992 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.615 0.057 N 1.000 0.186 P -0.805 0.016 N 2.59 0.133 T 0.6 0.025 N 0.091 0.089 -0.969 0.374 T 0.000 0.000 T . . . 1.602 0.254 13.86 0.852 0.152 0.145 0.182 N c -0.955 -0.662 0.999 0.397 0.707 0.730 0 4.34 0.511 2.050 0.407 0.242 0.267 0.993 0.376 0.980 0.490 11.697 0.506 . ENSG00000117407.12|ENSG00000117407.12|ENSG00000159214.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Whole_Blood 0.6988 0.9278 0.5159 0.6597 0.8165 0.7409 0.7332 0.6877 0.5708 0.7906 0.9216 0.5453 0.5993 0.8309 0.7244 0.7469 0.7296 hom 2844.27 92 1 44137257 . C A 2844.27 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=59.34;MQ0=0;QD=30.92;VQSLOD=9.0788;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2877,226,0 1 44401384 44401384 A G exonic ARTN nonsynonymous SNV ARTN:NM_001136215:exon2:c.A56G:p.Q19R,ARTN:NM_057090:exon3:c.A56G:p.Q19R,ARTN:NM_057091:exon3:c.A56G:p.Q19R 0.84 0.74 0.87 0.83 0.91 0.88 0.8848 0.7664 0.8417 0.8358 0.8767 0.9208 0.8738 0.8732 0.87 0.77 0.92 0.77 0.89 rs2242637 COSM4143993 1(thyroid) . . . . . . . . . . . 0.87 0.026 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -0.115 0.046 N -1.61 0.823 D 0.48 0.031 N 0.045 0.274 -0.963 0.386 T 0.000 0.000 T . . . -0.539 0.053 0.176 0.844 0.147 0.027 0.072 N c -1.116 -0.995 1.000 0.747 0.726 0.872 0 1.91 0.247 -0.113 0.107 0.067 0.174 0.000 0.063 0.830 0.347 5.801 0.176 . ENSG00000117408.6|ENSG00000159214.8|ENSG00000117410.9 Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood|Whole_Blood 0.8861 0.7681 0.8508 0.9270 0.8404 0.8775 0.9215 0.8909 0.8752 0.8672 0.7671 0.8461 0.9205 0.8498 0.8744 0.9252 0.8745 hom 1432.91 48 1 44401384 . A G 1432.91 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.52;MQ0=0;QD=29.85;VQSLOD=8.3578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1466,114,0 1 44415415 44415415 C T exonic IPO13 synonymous SNV IPO13:NM_014652:exon2:c.C411T:p.D137D 0.51 0.088 0.62 0.62 0.76 0.61 0.6710 0.1844 0.5412 0.6377 0.7867 0.7766 0.6949 0.6108 0.59 0.2 0.79 0.38 0.7 rs2240447 COSM3751231 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6789 0.1780 0.5572 0.6826 0.6442 0.7884 0.7846 0.6893 0.6148 0.6023 0.1883 0.5453 0.6225 0.6502 0.7784 0.7912 0.7337 hom 2736.33 80 1 44415415 . C T 2736.33 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.53;MQ0=0;QD=34.20;VQSLOD=9.3393;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2769,223,0 1 44595113 44595113 G C exonic KLF17 nonsynonymous SNV KLF17:NM_173484:exon2:c.G170C:p.S57T 0.5 0.22 0.52 0.63 0.69 0.51 0.6088 0.2775 0.5101 0.6680 0.6428 0.6719 0.5828 0.5869 0.54 0.3 0.66 0.43 0.69 rs2429051 COSM3751238;COSM3751237 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.229 0.183 T 0.183 0.275 B 0.053 0.243 B 0.653 0.059 N 1 0.090 P 0.895 0.225 L 2.95 0.097 T -0.56 0.170 N 0.034 0.014 -0.990 0.326 T 0.000 0.000 T . . . 0.055 0.099 3.139 0.872 0.165 0.015 0.049 N c -1.454 -1.518 0.000 0.050 0.554 0.283 0 -3.88 0.039 -0.429 0.070 -1.582 0.009 0.000 0.063 0.000 0.016 1.663 0.026 . ENSG00000178028.9 Muscle_Skeletal 0.6052 0.2705 0.5144 0.6368 0.6658 0.6433 0.6724 0.6286 0.5561 0.5598 0.2848 0.5322 0.6074 0.6760 0.6542 0.6823 0.6166 het 1462.70 127 1 44595113 . G C 1462.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.702;DP=127;Dels=0.00;FS=1.461;HRun=1;HaplotypeScore=3.3659;MQ=59.34;MQ0=0;MQRankSum=1.845;QD=11.52;ReadPosRankSum=-0.905;VQSLOD=5.2122;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,56:127:99:1493,0,2026 1 44595410 44595410 A G exonic KLF17 nonsynonymous SNV KLF17:NM_173484:exon2:c.A467G:p.N156S 0.28 0.091 0.26 0.42 0.4 0.26 0.3305 0.1332 0.2827 0.4720 0.325 0.3647 0.3322 0.2782 0.3 0.14 0.37 0.22 0.33 rs2485652 COSM3746971;COSM3746972 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.163 0.031 N 1 0.090 P -0.435 0.028 N 3.17 0.076 T 1.0 0.014 N 0.007 0.000 -0.946 0.417 T 0.000 0.000 T . . . -3.891 0.000 0.001 0.125 0.002 0.001 0.006 N c -2.279 -2.321 0.856 0.251 0.497 0.185 0 -9.27 0.006 -2.130 0.014 -3.135 0.001 0.000 0.063 0.001 0.043 8.585 0.326 . . . 0.3327 0.1308 0.2867 0.3432 0.4669 0.3076 0.3716 0.3523 0.2779 0.3064 0.1354 0.2840 0.3333 0.4608 0.3157 0.3861 0.3340 het 739.02 52 1 44595410 . A G 739.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.037;DP=52;Dels=0.00;FS=7.963;HRun=0;HaplotypeScore=3.1253;MQ=59.56;MQ0=0;MQRankSum=0.256;QD=14.21;ReadPosRankSum=-0.971;VQSLOD=4.8004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,25:52:99:769,0,834 1 44595426 44595426 G A exonic KLF17 synonymous SNV KLF17:NM_173484:exon2:c.G483A:p.S161S 0.28 0.091 0.26 0.42 0.4 0.26 0.3302 0.1328 0.2803 0.4717 0.3257 0.3646 0.3322 0.2781 0.3 0.14 0.37 0.21 0.32 rs2429050 COSM3746974;COSM3746973 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3323 0.1305 0.2845 0.3432 0.4668 0.3078 0.3715 0.3520 0.2778 0.3061 0.1344 0.2828 0.3333 0.4587 0.3155 0.3866 0.3340 het 850.28 71 1 44595426 . G A 850.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.228;DP=71;Dels=0.00;FS=5.284;HRun=0;HaplotypeScore=8.4525;MQ=58.99;MQ0=0;MQRankSum=0.030;QD=11.98;ReadPosRankSum=-1.128;VQSLOD=4.0340;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:38,32:71:99:880,0,1009 1 44596380 44596382 CAA - exonic KLF17 nonframeshift deletion KLF17:NM_173484:exon3:c.1122_1124del:p.N378del 0.23 0.072 0.27 0.29 0.17 0.41 0.2178 0.0913 0.2910 0.2505 0.2086 0.1850 0.2384 0.3645 0.16 0.1 0.19 . . rs34057178 COSM5713030;COSM5713029 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2235 0.0889 0.2949 0.1469 0.2544 0.2120 0.1875 0.1940 0.3636 0.1668 0.0900 0.2751 0.15 0.2640 0.1997 0.1844 0.2169 het 1674.82 134 1 44596379 . CCAA C 1674.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.264;DP=134;FS=2.875;HRun=0;HaplotypeScore=529.1137;MQ=57.72;MQ0=0;MQRankSum=-0.303;QD=12.50;ReadPosRankSum=0.350;set=variant2 GT:AD:DP:GQ:PL 0/1:89,45:134:99:1714,0,3937 1 45292926 45292926 C G exonic PTCH2 synonymous SNV PTCH2:NM_001166292:exon16:c.G2427C:p.S809S,PTCH2:NM_003738:exon16:c.G2427C:p.S809S 0.0068 0.0008 0.0086 . 0.025 0.002 0.0123 0.0021 0.0092 0.0001 0.0191 0.0177 0.0288 0.0021 0.013 0.0023 0.018 . . rs111471526 . . Benign Gorlin_syndrome RCV000228984.2 MedGen:OMIM:Orphanet:SNOMED_CT C0004779:109400:ORPHA377:69408002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0119 0.0021 0.0081 0.0126 0.0001 0.0184 0.0173 0.0190 0.0020 0.0154 0.0017 0.0036 0.0066 0 0.0195 0.0246 0.0204 het 1750.98 138 1 45292926 . C G 1750.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.481;DP=138;Dels=0.00;FS=0.636;HRun=1;HaplotypeScore=0.7887;MQ=58.51;MQ0=0;MQRankSum=0.657;QD=12.69;ReadPosRankSum=-0.442;VQSLOD=5.3671;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,66:138:99:1781,0,1848 1 45504720 45504720 G C exonic ZSWIM5 synonymous SNV ZSWIM5:NM_020883:exon8:c.C1782G:p.T594T 0.51 0.38 0.43 0.45 0.62 0.69 0.5688 0.3891 0.4217 0.5086 0.6010 0.6008 0.6281 0.664 0.53 0.4 0.6 0.47 0.6 rs7551698 COSM3751251 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5621 0.3854 0.4302 0.6313 0.5020 0.5996 0.5949 0.5738 0.6567 0.5275 0.3891 0.4617 0.6033 0.4981 0.6009 0.5920 0.5951 hom 2671.03 90 1 45504720 . G C 2671.03 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4435;MQ=59.02;MQ0=0;QD=29.68;VQSLOD=7.2293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:90:99:2704,223,0 1 45795084 45795084 G A exonic MUTYH nonsynonymous SNV MUTYH:NM_001350650:exon15:c.C1115T:p.S372F,MUTYH:NM_001350651:exon15:c.C1115T:p.S372F,MUTYH:NM_001048171:exon16:c.C1502T:p.S501F,MUTYH:NM_001048172:exon16:c.C1463T:p.S488F,MUTYH:NM_001048173:exon16:c.C1460T:p.S487F,MUTYH:NM_001048174:exon16:c.C1460T:p.S487F,MUTYH:NM_001128425:exon16:c.C1544T:p.S515F,MUTYH:NM_001293190:exon16:c.C1505T:p.S502F,MUTYH:NM_001293191:exon16:c.C1493T:p.S498F,MUTYH:NM_001293192:exon16:c.C1184T:p.S395F,MUTYH:NM_001293196:exon16:c.C1184T:p.S395F,MUTYH:NM_012222:exon16:c.C1535T:p.S512F,MUTYH:NM_001293195:exon17:c.C1460T:p.S487F 0.0046 0.0038 0.0086 . 0.008 0.0041 0.0079 0.0078 0.0061 0 0.0051 0.0107 0.0088 0.0030 0.011 0.0082 0.013 0.022 0.0082 rs140118273 COSM5020660 1(soft_tissue) Benign|other|Benign|Benign not_provided|MYH-associated_polyposis|not_specified|Hereditary_cancer-predisposing_syndrome RCV000034672.3|RCV000119200.4|RCV000121601.3|RCV000132436.5 MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:SNOMED_CT CN221809|C1837991:608456:ORPHA247798|CN169374|C0027672:699346009 . . . . . . 0.014 0.531 D 0.908 0.481 P 0.351 0.411 B 0.638 0.106 N 1 0.090 N 1.1 0.281 L -0.34 0.685 T -2.03 0.466 N 0.109 0.298 -0.963 0.387 T 0.131 0.442 T . . . 2.095 0.313 16.82 0.944 0.243 0.068 0.127 N c -0.997 -1.026 1.000 0.747 0.731 0.878 0 0.173 0.143 1.756 0.378 -0.253 0.089 0.106 0.227 0.089 0.185 6.802 0.228 MutY\x2c C-terminal|NUDIX hydrolase domain|NUDIX hydrolase domain-like;NUDIX hydrolase domain-like . . 0.0084 0.0075 0.0067 0.0240 0 0.0047 0.0111 0.0119 0.0028 0.0081 0.0091 0.0072 0.0265 0 0.0043 0.0091 0.0051 het 2642.58 211 1 45795084 . G A 2642.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.717;DP=211;Dels=0.00;FS=3.986;HRun=1;HaplotypeScore=5.1087;MQ=58.68;MQ0=0;MQRankSum=1.156;QD=12.52;ReadPosRankSum=-0.150;VQSLOD=3.4845;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,98:211:99:2673,0,2823 1 45797505 45797505 C G exonic MUTYH nonsynonymous SNV MUTYH:NM_001350650:exon11:c.G585C:p.Q195H,MUTYH:NM_001350651:exon11:c.G585C:p.Q195H,MUTYH:NM_001048171:exon12:c.G972C:p.Q324H,MUTYH:NM_001048172:exon12:c.G933C:p.Q311H,MUTYH:NM_001048173:exon12:c.G930C:p.Q310H,MUTYH:NM_001048174:exon12:c.G930C:p.Q310H,MUTYH:NM_001128425:exon12:c.G1014C:p.Q338H,MUTYH:NM_001293190:exon12:c.G975C:p.Q325H,MUTYH:NM_001293191:exon12:c.G963C:p.Q321H,MUTYH:NM_001293192:exon12:c.G654C:p.Q218H,MUTYH:NM_001293196:exon12:c.G654C:p.Q218H,MUTYH:NM_012222:exon12:c.G1005C:p.Q335H,MUTYH:NM_001293195:exon13:c.G930C:p.Q310H 0.31 0.26 0.48 0.39 0.24 0.26 0.2967 0.2846 0.5312 0.4303 0.2429 0.2600 0.3011 0.2448 0.25 0.26 0.25 0.35 0.13 rs3219489 COSM3751252 1(haematopoietic_and_lymphoid_tissue);19(soft_tissue);1(large_intestine) Benign|Benign|Benign|Benign|Benign not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Carcinoma_of_colon|MYH-associated_polyposis RCV000034684.1|RCV000079500.6|RCV000131427.2|RCV000144634.1|RCV000299432.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet CN221809|CN169374|C0027672:699346009|C0699790:114500:269533000|C1837991:608456:ORPHA247798 . . . . . . 0.168 0.284 T 0.343 0.386 B 0.086 0.342 B 0.038 0.243 N 0.743 0.588 P 2.665 0.782 M 3.23 0.229 T -1.03 0.270 N 0.056 0.088 -0.933 0.437 T 0.000 0.000 T . . . 0.336 0.126 6.039 0.797 0.124 0.147 0.184 N c -0.583 -0.613 0.998 0.361 0.732 0.924 0 1.26 0.204 -0.265 0.086 0.935 0.490 0.000 0.063 0.732 0.317 2.473 0.043 DNA glycosylase|Helix-turn-helix\x2c base-excision DNA repair\x2c C-terminal ENSG00000117450.9|ENSG00000117450.9|ENSG00000117450.9|ENSG00000236624.4|ENSG00000236624.4|ENSG00000117450.9|ENSG00000236624.4|ENSG00000070759.12|ENSG00000117450.9|ENSG00000236624.4|ENSG00000070759.12 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2891 0.2621 0.4876 0.2641 0.3969 0.2202 0.2446 0.2963 0.2371 0.2584 0.2696 0.4353 0.3013 0.4143 0.2278 0.2327 0.2382 hom 382.83 11 1 45797505 . C G 382.83 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.80;VQSLOD=12.4592;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:416,33,0 1 46032307 46032307 G A exonic AKR1A1 nonsynonymous SNV AKR1A1:NM_153326:exon3:c.G151A:p.G51S,AKR1A1:NM_001202413:exon4:c.G151A:p.G51S,AKR1A1:NM_006066:exon4:c.G151A:p.G51S,AKR1A1:NM_001202414:exon5:c.G151A:p.G51S 0.004 . 0.0043 . 0.011 0.0061 0.0071 0.0015 0.0037 0 0.0095 0.0100 0.0033 0.0041 0.0068 0.0007 0.0099 . . rs61751012 . . . . . . . . . . . . . 0.223 0.187 T 0.075 0.227 B 0.097 0.288 B 0.000 0.473 N 1.000 0.490 D 2.66 0.781 M 0.81 0.485 T -2.91 0.698 D 0.34 0.401 -0.914 0.464 T 0.118 0.415 T . . . 2.978 0.418 22.2 0.988 0.457 0.961 0.674 D c 0.170 0.299 0.997 0.356 0.672 0.522 0 5.21 0.719 5.555 0.668 1.048 0.713 1.000 0.715 0.998 0.697 8.333 0.312 Aldo/keto reductase\x2c conserved site|NADP-dependent oxidoreductase domain . . 0.0069 0.0018 0.0052 0.0038 5.798e-05 0.0074 0.0101 0.0086 0.0041 0.0068 0.0017 0.0048 0 0 0.0074 0.0107 0.0071 het 2067.27 189 1 46032307 . G A 2067.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.477;DP=189;Dels=0.00;FS=3.365;HRun=0;HaplotypeScore=1.8924;MQ=59.25;MQ0=0;MQRankSum=-1.568;QD=10.94;ReadPosRankSum=1.126;VQSLOD=5.2333;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,82:189:99:2097,0,2749 1 46078854 46078854 A G exonic NASP synonymous SNV NASP:NM_001195193:exon5:c.A1248G:p.S416S,NASP:NM_152298:exon6:c.A423G:p.S141S,NASP:NM_002482:exon7:c.A1440G:p.S480S 0.68 0.73 0.65 0.66 0.72 0.61 0.6993 0.7540 0.6591 0.6344 0.7739 0.7087 0.7122 0.6582 0.72 0.75 0.7 0.61 0.71 rs2230658 COSM3746978;COSM3746977 1(haematopoietic_and_lymphoid_tissue);1(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6987 0.7589 0.6664 0.7175 0.6422 0.7669 0.7058 0.6967 0.6514 0.7244 0.7589 0.6635 0.7285 0.6125 0.7627 0.7112 0.7168 het 476.10 76 1 46078854 . A G 476.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.782;DP=76;Dels=0.00;FS=1.043;HRun=1;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;MQRankSum=0.418;QD=6.26;ReadPosRankSum=-1.105;VQSLOD=5.1569;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,22:76:99:506,0,1516 1 46078884 46078884 C T exonic NASP synonymous SNV NASP:NM_001195193:exon5:c.C1278T:p.T426T,NASP:NM_152298:exon6:c.C453T:p.T151T,NASP:NM_002482:exon7:c.C1470T:p.T490T 0.68 0.73 0.65 0.66 0.72 0.61 0.6996 0.7516 0.6582 0.6348 0.7743 0.7095 0.7168 0.6590 0.72 0.75 0.7 0.61 0.72 rs2230659 COSM3746979;COSM3746980 1(haematopoietic_and_lymphoid_tissue);1(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7012 0.7574 0.6718 0.7216 0.6441 0.7681 0.7079 0.6991 0.6567 0.7234 0.7548 0.6623 0.7285 0.6100 0.7627 0.7118 0.7194 het 927.15 100 1 46078884 . C T 927.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.467;DP=100;Dels=0.00;FS=10.241;HRun=0;HaplotypeScore=1.5115;MQ=59.58;MQ0=0;MQRankSum=0.225;QD=9.27;ReadPosRankSum=0.542;VQSLOD=3.6170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,37:100:99:957,0,1461 1 46086077 46086077 C T exonic CCDC17 nonsynonymous SNV CCDC17:NM_001114938:exon13:c.G1739A:p.S580N,CCDC17:NM_001190182:exon13:c.G1712A:p.S571N 0.69 0.73 0.65 0.69 0.72 0.61 0.7094 0.75 0.6668 0.6771 0.7828 0.7159 0.7254 0.6696 0.72 0.74 0.71 0.64 . rs3014246 COSM3746981;COSM3746982 1(liver) . . . . . . . . . . . 0.421 0.099 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P -0.345 0.033 N 2.25 0.535 T -0.77 0.214 N 0.007 0.000 -0.917 0.460 T 0.000 0.000 T . . . -0.328 0.066 0.573 0.622 0.067 0.020 0.061 N c -1.231 -1.294 1.000 0.517 0.490 0.173 0 -0.827 0.102 -0.292 0.083 -0.563 0.046 0.006 0.172 0.000 0.016 6.069 0.190 . ENSG00000159592.6|ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000197429.6|ENSG00000159588.10|ENSG00000159592.6|ENSG00000234329.1|ENSG00000159592.6|ENSG00000117450.9|ENSG00000086015.16 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.6987 0.7475 0.6641 0.7053 0.6681 0.7721 0.7021 0.6996 0.6482 0.7275 0.7536 0.6671 0.7252 0.6366 0.7723 0.7154 0.7219 het 97.55 21 1 46086077 . C T 97.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.362;DP=21;Dels=0.00;FS=2.046;HRun=1;HaplotypeScore=0.9665;MQ=59.11;MQ0=0;MQRankSum=0.124;QD=4.65;ReadPosRankSum=0.454;VQSLOD=4.3307;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,5:21:99:128,0,491 1 46094027 46094027 A G exonic GPBP1L1 synonymous SNV GPBP1L1:NM_021639:exon13:c.T1326C:p.S442S 0.32 0.26 0.35 0.35 0.28 0.4 0.3009 0.2469 0.3391 0.3683 0.2250 0.2898 0.2841 0.3493 0.28 0.25 0.29 0.35 0.2 rs1250 COSM146499 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3008 0.2442 0.3258 0.2880 0.3578 0.2326 0.2925 0.3006 0.3531 0.2772 0.2466 0.3329 0.2781 0.3916 0.2358 0.2890 0.2816 het 2628.25 219 1 46094027 . A G 2628.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.345;DP=219;DS;Dels=0.00;FS=1.824;HRun=1;HaplotypeScore=8.2794;MQ=59.41;MQ0=0;MQRankSum=-0.580;QD=12.00;ReadPosRankSum=-1.801;VQSLOD=4.0138;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,102:219:99:2658,0,3064 1 46095272 46095272 T C exonic GPBP1L1 synonymous SNV GPBP1L1:NM_021639:exon12:c.A1248G:p.K416K 0.32 0.27 0.35 0.32 0.28 0.41 0.3049 0.2471 0.3386 0.3464 0.2623 0.2939 0.2941 0.3584 0.28 0.25 0.3 0.36 0.21 rs1135812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3054 0.2429 0.3263 0.2954 0.3403 0.2662 0.2954 0.3069 0.3617 0.2817 0.2435 0.3329 0.2781 0.3781 0.2659 0.2937 0.2924 het 1974.57 132 1 46095272 . T C 1974.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.557;DP=132;Dels=0.00;FS=2.583;HRun=1;HaplotypeScore=0.6651;MQ=59.37;MQ0=0;MQRankSum=-0.849;QD=14.96;ReadPosRankSum=0.997;VQSLOD=5.9850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,78:132:99:2005,0,1429 1 46195375 46195375 T C exonic IPP nonsynonymous SNV IPP:NM_001145349:exon4:c.A791G:p.K264R,IPP:NM_005897:exon4:c.A791G:p.K264R 0.31 0.25 0.35 0.31 0.28 0.41 0.3040 0.2406 0.3380 0.3433 0.2617 0.2933 0.2958 0.3603 0.28 0.25 0.3 0.36 0.17 rs28375469 COSM3751253;COSM146501 1(breast);1(stomach);1(skin);1(prostate);1(large_intestine) . . . . . . . . . . . 0.221 0.192 T 0.003 0.126 B 0.002 0.104 B 0.000 0.523 D 0.000 0.497 P 0.55 0.145 N -0.63 0.740 T -0.47 0.176 N 0.205 0.251 -1.089 0.057 T 0.000 0.000 T . . . 1.993 0.300 16.17 0.997 0.795 0.982 0.804 D c -0.079 0.151 1.000 0.747 0.706 0.609 0 5.81 0.924 7.603 0.819 1.058 0.762 1.000 0.715 0.992 0.562 16.167 0.815 . ENSG00000159592.6|ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000197429.6|ENSG00000159588.10|ENSG00000159588.10|ENSG00000234329.1|ENSG00000159592.6|ENSG00000159592.6|ENSG00000117450.9|ENSG00000086015.16 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Whole_Blood 0.3038 0.2359 0.3237 0.2859 0.3379 0.2660 0.2950 0.3059 0.3617 0.2800 0.2369 0.3341 0.2715 0.3779 0.2668 0.2940 0.2914 het 1250.61 108 1 46195375 . T C 1250.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.872;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8305;MQ=59.44;MQ0=0;MQRankSum=1.500;QD=11.58;ReadPosRankSum=-0.120;VQSLOD=6.5380;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,50:108:99:1281,0,1449 1 46476587 46476587 T G exonic MAST2 nonsynonymous SNV MAST2:NM_001319245:exon10:c.T1164G:p.D388E,MAST2:NM_001324321:exon10:c.T702G:p.D234E,MAST2:NM_015112:exon10:c.T1164G:p.D388E,MAST2:NM_001324320:exon11:c.T1185G:p.D395E 0.87 0.92 0.87 0.98 0.72 0.86 0.7924 0.8887 0.8965 0.9823 0.6864 0.7378 0.7567 0.8284 0.79 0.89 0.74 0.85 0.71 rs11211247 COSM1343092;COSM5653785 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.843 N 1.000 0.810 P -1.32 0.007 N 1.87 0.241 T 2.01 0.005 N 0.107 0.114 -0.982 0.345 T 0.000 0.000 T . . . -0.057 0.088 2.070 0.215 0.008 0.382 0.257 N c -1.135 -0.870 0.005 0.110 0.707 0.730 0 2.69 0.308 1.068 0.300 -0.348 0.070 1.000 0.715 0.997 0.653 5.815 0.176 Microtubule-associated serine/threonine-protein kinase\x2c domain|Microtubule-associated serine/threonine-protein kinase\x2c pre-PK domain ENSG00000236624.4|ENSG00000132763.10|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000159596.6|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000117450.9|ENSG00000236624.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.7930 0.8869 0.8877 0.7765 0.9791 0.6930 0.735 0.7874 0.8273 0.7898 0.8817 0.8568 0.82 0.9827 0.6976 0.7357 0.7413 het 813 62 1 46476587 . T G 813 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.619;DP=62;Dels=0.00;FS=0.990;HRun=0;HaplotypeScore=0.0000;MQ=57.27;MQ0=0;MQRankSum=-1.305;QD=13.11;ReadPosRankSum=-0.535;VQSLOD=4.1529;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,36:62:99:843,0,563 1 46496709 46496709 A G exonic MAST2 synonymous SNV MAST2:NM_001319245:exon23:c.A2739G:p.S913S,MAST2:NM_001324321:exon23:c.A2277G:p.S759S,MAST2:NM_015112:exon23:c.A2739G:p.S913S,MAST2:NM_001324320:exon24:c.A2760G:p.S920S 0.64 0.58 0.63 0.7 0.74 0.59 0.6908 0.6040 0.6598 0.6837 0.7475 0.7159 0.7093 0.6423 0.69 0.63 0.72 0.58 0.76 rs925524 COSM3746985 1(liver);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6906 0.6007 0.6665 0.6981 0.6858 0.7414 0.7146 0.6964 0.6378 0.6786 0.5957 0.6603 0.7185 0.6473 0.7441 0.7132 0.7049 het 854.92 75 1 46496709 . A G 854.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.679;DP=75;Dels=0.00;FS=1.962;HRun=0;HaplotypeScore=1.9552;MQ=58.23;MQ0=0;MQRankSum=-0.039;QD=11.40;ReadPosRankSum=0.215;VQSLOD=5.0464;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,37:75:99:885,0,938 1 46498375 46498375 A G exonic MAST2 synonymous SNV MAST2:NM_001319245:exon26:c.A3522G:p.V1174V,MAST2:NM_001324321:exon26:c.A3060G:p.V1020V,MAST2:NM_015112:exon26:c.A3522G:p.V1174V,MAST2:NM_001324320:exon27:c.A3543G:p.V1181V 0.69 0.75 0.64 0.71 0.73 0.56 0.6971 0.7560 0.6570 0.6883 0.7457 0.7104 0.7042 0.6192 0.72 0.75 0.71 0.64 0.8 rs1622208 COSM3746986 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 0.290 0.122 5.597 0.796 0.124 0.271 0.230 N n 1.170 0.222 0.990 0.319 0.707 0.730 0 0.936 0.185 2.025 0.404 -0.272 0.086 1.000 0.715 0.997 0.653 6.79 0.227 . ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000159588.10|ENSG00000159588.10|ENSG00000234329.1|ENSG00000159588.10|ENSG00000086015.16|ENSG00000159592.6|ENSG00000117450.9 Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid 0.6960 0.7546 0.6691 0.7141 0.6925 0.7403 0.7091 0.6949 0.6130 0.7206 0.7498 0.6627 0.7119 0.6545 0.7418 0.7099 0.7105 het 1647.58 139 1 46498375 . A G 1647.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.730;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6404;MQ=58.33;MQ0=0;MQRankSum=1.771;QD=11.85;ReadPosRankSum=0.626;VQSLOD=5.0132;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,61:139:99:1678,0,2075 1 46500613 46500613 T C exonic MAST2 synonymous SNV MAST2:NM_001319245:exon29:c.T4269C:p.T1423T,MAST2:NM_001324321:exon29:c.T3810C:p.T1270T,MAST2:NM_015112:exon29:c.T4272C:p.T1424T,MAST2:NM_001324320:exon30:c.T4293C:p.T1431T 0.12 0.047 0.13 0.015 0.28 0.14 0.2065 0.0814 0.1006 0.0177 0.3138 0.2644 0.2427 0.1733 0.2 0.082 0.26 0.11 0.28 rs17855317 COSM426374 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2050 0.0795 0.1097 0.2226 0.0209 0.3074 0.2655 0.2115 0.1739 0.2016 0.0861 0.1420 0.1788 0.0173 0.3025 0.2654 0.2602 het 2799.78 207 1 46500613 . T C 2799.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.997;DP=207;DS;Dels=0.00;FS=5.021;HRun=1;HaplotypeScore=7.2927;MQ=59.13;MQ0=0;MQRankSum=2.000;QD=13.46;ReadPosRankSum=0.858;VQSLOD=4.0369;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,101:207:99:2830,0,2793 1 46521517 46521517 G A exonic LOC110117498-PIK3R3;PIK3R3 synonymous SNV PIK3R3:NM_001328654:exon5:c.C423T:p.S141S,PIK3R3:NM_001328653:exon6:c.C648T:p.S216S,LOC110117498-PIK3R3:NM_001303427:exon7:c.C1029T:p.S343S,PIK3R3:NM_001328648:exon7:c.C759T:p.S253S,PIK3R3:NM_001328649:exon7:c.C759T:p.S253S,PIK3R3:NM_001328650:exon7:c.C759T:p.S253S,PIK3R3:NM_001328651:exon7:c.C759T:p.S253S,PIK3R3:NM_001328652:exon7:c.C891T:p.S297S,PIK3R3:NM_003629:exon7:c.C891T:p.S297S,PIK3R3:NM_001114172:exon8:c.C891T:p.S297S,PIK3R3:NM_001303428:exon8:c.C942T:p.S314S 0.64 0.59 0.63 0.69 0.73 0.56 0.6810 0.6028 0.6491 0.6729 0.7455 0.7092 0.6976 0.6156 0.67 0.6 0.71 0.59 0.8 rs785468 COSM3746987 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6823 0.6026 0.6585 0.7062 0.6757 0.7388 0.7077 0.6832 0.6109 0.6766 0.5981 0.6487 0.7086 0.645 0.7415 0.7094 0.7047 het 1550.72 165 1 46521517 . G A 1550.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.350;DP=165;Dels=0.00;FS=2.822;HRun=0;HaplotypeScore=6.7552;MQ=58.87;MQ0=0;MQRankSum=-0.565;QD=9.40;ReadPosRankSum=-0.605;VQSLOD=4.3815;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,70:165:99:1581,0,2450 1 46521559 46521559 A T exonic LOC110117498-PIK3R3;PIK3R3 nonsynonymous SNV PIK3R3:NM_001328654:exon5:c.T381A:p.N127K,PIK3R3:NM_001328653:exon6:c.T606A:p.N202K,LOC110117498-PIK3R3:NM_001303427:exon7:c.T987A:p.N329K,PIK3R3:NM_001328648:exon7:c.T717A:p.N239K,PIK3R3:NM_001328649:exon7:c.T717A:p.N239K,PIK3R3:NM_001328650:exon7:c.T717A:p.N239K,PIK3R3:NM_001328651:exon7:c.T717A:p.N239K,PIK3R3:NM_001328652:exon7:c.T849A:p.N283K,PIK3R3:NM_003629:exon7:c.T849A:p.N283K,PIK3R3:NM_001114172:exon8:c.T849A:p.N283K,PIK3R3:NM_001303428:exon8:c.T900A:p.N300K 0.68 0.75 0.64 0.69 0.73 0.56 0.6940 0.7478 0.6556 0.6723 0.7453 0.7097 0.7048 0.6137 0.72 0.74 0.71 0.63 0.8 rs785467 COSM3735974 1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 0.999 0.810 P -1.725 0.003 N 1.75 0.262 T 1.03 0.014 N 0.02 0.029 -0.960 0.391 T 0.000 0.000 T . . . 0.729 0.163 9.016 0.543 0.050 0.380 0.257 N c -0.898 -0.598 0.228 0.184 0.732 0.924 0 3.95 0.448 1.163 0.312 0.152 0.238 1.000 0.715 0.999 0.750 6.246 0.199 PI3K p85 subunit\x2c inter-SH2 domain ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000159588.10|ENSG00000159588.10|ENSG00000234329.1|ENSG00000159588.10|ENSG00000086015.16|ENSG00000159592.6|ENSG00000117450.9 Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid 0.6937 0.7486 0.6673 0.7099 0.6768 0.7397 0.7087 0.6916 0.6122 0.7188 0.7464 0.6599 0.7086 0.6461 0.7414 0.7095 0.7100 het 1360.79 122 1 46521559 . A T 1360.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.941;DP=122;Dels=0.00;FS=3.455;HRun=2;HaplotypeScore=3.4429;MQ=59.34;MQ0=0;MQRankSum=0.668;QD=11.15;ReadPosRankSum=-0.384;VQSLOD=5.7766;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,54:122:99:1391,0,1794 1 46655158 46655158 T C exonic POMGNT1 nonsynonymous SNV POMGNT1:NM_001290129:exon20:c.A1801G:p.M601V,POMGNT1:NM_001290130:exon20:c.A1438G:p.M480V,POMGNT1:NM_001243766:exon21:c.A1867G:p.M623V,POMGNT1:NM_017739:exon21:c.A1867G:p.M623V 0.94 0.79 0.99 1. 1. 1. 0.9838 0.8219 0.9926 1 1 0.9997 0.9911 0.9998 0.94 0.83 1. 0.92 0.93 rs6659553 . . Benign not_specified RCV000153758.3 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.810 P -0.625 0.021 N -1.76 0.836 D 1.3 0.010 N 0.046 0.486 -0.926 0.448 T 0.000 0.000 T . . . 0.266 0.120 5.360 0.858 0.156 0.183 0.200 N c -0.667 -0.308 1.000 0.747 0.732 0.924 0 5.92 0.955 5.829 0.688 0.069 0.176 1.000 0.715 0.998 0.697 15.028 0.712 Nucleotide-diphospho-sugar transferases . . 0.9872 0.8176 0.9912 0.9998 1 1 0.9996 0.9952 0.9997 0.9486 0.8207 0.9881 1 1 1 0.9995 0.9898 hom 1101.09 35 1 46655158 . T C 1101.09 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.46;VQSLOD=13.9330;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1134,90,0 1 46810530 46810530 A G exonic NSUN4 nonsynonymous SNV NSUN4:NM_001256127:exon2:c.A4G:p.T2A,NSUN4:NM_001256128:exon2:c.A4G:p.T2A,NSUN4:NM_199044:exon2:c.A151G:p.T51A 0.3 0.14 0.36 0.52 0.34 0.23 0.3227 0.1716 0.4057 0.4855 0.3136 0.3288 0.3436 0.2525 0.28 0.18 0.33 0.24 0.37 rs3737744 COSM3746988 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.336 0.330 T 0.004 0.112 B 0.005 0.104 B 0.000 0.497 D 0.005 0.450 P 2.14 0.601 M 2.54 0.144 T -1.39 0.344 N 0.097 0.308 -0.912 0.466 T 0.000 0.000 T . . . 2.074 0.310 16.69 0.989 0.485 0.932 0.572 D c -0.061 0.131 1.000 0.747 0.707 0.730 0 5.45 0.796 5.674 0.676 1.199 0.960 1.000 0.715 1.000 0.888 15.186 0.726 . ENSG00000085999.7|ENSG00000117481.6|ENSG00000117481.6|ENSG00000117481.6|ENSG00000117480.11|ENSG00000117481.6 Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Muscularis|Muscle_Skeletal|Testis|Thyroid|Whole_Blood 0.3335 0.1693 0.4074 0.4777 0.4945 0.3136 0.3224 0.3488 0.2500 0.2888 0.1584 0.3663 0.5066 0.4746 0.3054 0.3318 0.2910 het 3057.41 245 1 46810530 . A G 3057.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.942;DP=245;DS;Dels=0.00;FS=1.581;HRun=1;HaplotypeScore=5.4935;MQ=59.21;MQ0=0;MQRankSum=-1.023;QD=12.48;ReadPosRankSum=-2.008;VQSLOD=4.3213;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,119:245:99:3087,0,3258 1 46827456 46827456 A G exonic NSUN4 nonsynonymous SNV NSUN4:NM_001256127:exon6:c.A946G:p.I316V,NSUN4:NM_001256128:exon6:c.A946G:p.I316V,NSUN4:NM_199044:exon6:c.A1093G:p.I365V 0.2 0.055 0.13 0.28 0.15 0.44 0.1716 0.0640 0.1119 0.3160 0.0909 0.1326 0.1949 0.3945 0.11 0.064 0.13 0.14 0.11 rs9865 COSM3997560 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.499 0.103 T 0.001 0.067 B 0.002 0.093 B 0.003 0.352 N 0.226 0.342 P 1.175 0.300 L 3.02 0.090 T -0.5 0.166 N 0.06 0.077 -0.906 0.474 T 0.000 0.000 T . . . 0.870 0.177 9.889 0.953 0.260 0.768 0.374 D c -0.321 -0.155 0.030 0.140 0.719 0.830 0 3.01 0.337 1.226 0.320 1.199 0.960 0.993 0.376 1.000 0.888 6.612 0.218 S-adenosyl-L-methionine-dependent methyltransferase|SAM-dependent methyltransferase RsmB/NOP2-type ENSG00000117480.11|ENSG00000117480.11 Artery_Tibial|Cells_Transformed_fibroblasts 0.1664 0.0637 0.1056 0.1340 0.3127 0.0929 0.1322 0.1548 0.3919 0.1172 0.0652 0.1026 0.1258 0.3242 0.1053 0.1261 0.1548 het 2224.04 147 1 46827456 . A G 2224.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.497;DP=147;Dels=0.00;FS=1.994;HRun=0;HaplotypeScore=2.4304;MQ=59.59;MQ0=0;MQRankSum=1.997;QD=15.13;ReadPosRankSum=-0.157;VQSLOD=6.0105;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,78:147:99:2254,0,1854 1 46871986 46871986 T C exonic FAAH synonymous SNV FAAH:NM_001441:exon7:c.T897C:p.C299C 0.88 0.86 0.93 0.99 0.85 0.81 0.8593 0.8552 0.9316 0.9979 0.9251 0.8407 0.8606 0.7871 0.84 0.85 0.84 0.91 0.79 rs324419 COSM3746989 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8649 0.8555 0.9309 0.8390 0.9976 0.9245 0.8383 0.8631 0.7852 0.8703 0.8558 0.9258 0.8377 0.9994 0.9147 0.8523 0.8625 hom 4388.10 144 1 46871986 . T C 4388.10 Mask AC=2;AF=1.00;AN=2;DP=144;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5401;MQ=59.29;MQ0=0;QD=30.47;VQSLOD=7.7328;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4387,385,0 1 46976837 46976837 C T exonic DMBX1 synonymous SNV DMBX1:NM_147192:exon3:c.C579T:p.P193P,DMBX1:NM_172225:exon3:c.C564T:p.P188P 0.18 0.029 0.36 0.011 0.4 0.19 0.3308 0.0842 0.3507 0.0061 0.3787 0.4329 0.3452 0.2056 0.32 0.095 0.44 0.16 0.38 rs1886116 COSM4144043 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3347 0.0742 0.3577 0.4288 0.0056 0.3712 0.4341 0.3708 0.2068 0.3013 0.0766 0.3747 0.4503 0.0074 0.3794 0.4363 0.3395 het 1360.77 76 1 46976837 . C T 1360.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.781;DP=76;Dels=0.00;FS=7.400;HRun=0;HaplotypeScore=2.8924;MQ=59.20;MQ0=0;MQRankSum=0.351;QD=17.90;ReadPosRankSum=-0.652;VQSLOD=4.0288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,47:76:99:1391,0,626 1 47078637 47078637 T C exonic MOB3C synonymous SNV MOB3C:NM_145279:exon2:c.A513G:p.A171A,MOB3C:NM_201403:exon2:c.A357G:p.A119A 0.67 0.58 0.57 0.96 0.5 0.76 0.5853 0.5737 0.5868 0.9456 0.5508 0.4998 0.5758 0.7740 0.51 0.57 0.48 0.7 0.37 rs4660947 COSM4144047;COSM4144048 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5823 0.5707 0.5775 0.5136 0.9461 0.5534 0.4916 0.5525 0.7592 0.5481 0.5651 0.5716 0.5132 0.9364 0.5539 0.4926 0.5716 het 1157.51 116 1 47078637 . T C 1157.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DP=116;Dels=0.00;FS=3.451;HRun=0;HaplotypeScore=6.8217;MQ=58.34;MQ0=0;MQRankSum=0.751;QD=9.98;ReadPosRankSum=0.043;VQSLOD=4.3921;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,48:116:99:1188,0,1919 1 47080679 47080679 G A exonic MOB3C stopgain MOB3C:NM_145279:exon1:c.C70T:p.R24X 0.64 0.56 0.52 0.93 0.48 0.71 0.5572 0.5558 0.5250 0.9168 0.5020 0.4805 0.5529 0.7249 0.5 0.56 0.47 0.69 0.41 rs6671527 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.588 P . . . . . . . . . . . . . . . . . . . . 6.368 0.879 29.5 0.994 0.613 0.001 0.007 N c -0.060 -0.439 1.000 0.428 0.493 0.174 0 2.2 0.268 -0.300 0.082 -0.770 0.033 0.000 0.063 0.008 0.104 5.311 0.150 . ENSG00000079277.15|ENSG00000079277.15|ENSG00000269956.1|ENSG00000142961.10|ENSG00000079277.15|ENSG00000142961.10|ENSG00000269956.1 Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Whole_Blood|Whole_Blood|Whole_Blood 0.5535 0.5540 0.5194 0.5072 0.9158 0.5055 0.4764 0.5278 0.7213 0.5269 0.5461 0.5143 0.4967 0.9116 0.5032 0.4802 0.5370 het 852.75 72 1 47080679 . G A 852.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.473;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.36;MQ0=0;MQRankSum=-0.631;QD=11.84;ReadPosRankSum=-0.034;VQSLOD=6.7872;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:883,0,867 1 47279175 47279175 C T exonic CYP4B1 nonsynonymous SNV CYP4B1:NM_001319162:exon3:c.C28T:p.R10W,CYP4B1:NM_001319163:exon3:c.C28T:p.R10W,CYP4B1:NM_001319161:exon4:c.C472T:p.R158W,CYP4B1:NM_000779:exon5:c.C517T:p.R173W,CYP4B1:NM_001099772:exon5:c.C517T:p.R173W 0.18 0.2 0.11 0.21 0.14 0.23 0.1498 0.1845 0.1220 0.1921 0.1032 0.1205 0.1322 0.2634 0.15 0.19 0.13 0.12 0.24 rs4646487 COSM3746991 1(liver) . . . . . . . . . . . 0.01 0.586 D 0.991 0.715 D 0.394 0.568 B 0.167 0.031 N 1.000 0.090 P 2.08 0.576 M -0.37 0.689 T -1.75 0.526 N 0.091 0.383 -1.098 0.043 T 0.001 0.003 T . . . 5.046 0.679 25.2 0.998 0.894 0.105 0.158 N c -0.317 -0.481 0.000 0.038 0.554 0.246 0 0.775 0.176 0.973 0.288 -0.027 0.127 0.191 0.240 0.361 0.248 5.297 0.150 . . . 0.1487 0.1900 0.1247 0.1055 0.1962 0.1131 0.1237 0.1215 0.2625 0.1445 0.1886 0.1301 0.1093 0.1963 0.1113 0.1229 0.1388 het 1557.01 107 1 47279175 . C T 1557.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.475;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4324;MQ=59.42;MQ0=0;MQRankSum=2.058;QD=14.55;ReadPosRankSum=-0.767;VQSLOD=5.6269;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,59:107:99:1587,0,1232 1 47395973 47395973 G A exonic CYP4A11 synonymous SNV CYP4A11:NM_000778:exon12:c.C1374T:p.I458I,CYP4A11:NM_001319155:exon12:c.C1278T:p.I426I 0.57 0.34 0.68 0.49 0.78 0.67 0.7032 0.4125 0.6986 0.5182 0.7743 0.7825 0.7189 0.6351 0.66 0.42 0.78 0.51 0.62 rs1126743 COSM3997566 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7073 0.4023 0.6923 0.7753 0.5256 0.7665 0.7847 0.7538 0.6253 0.6597 0.4132 0.7010 0.7781 0.5335 0.7702 0.7812 0.7306 het 2674.68 224 1 47395973 . G A 2674.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.870;DP=224;DS;Dels=0.00;FS=1.738;HRun=1;HaplotypeScore=3.8123;MQ=57.33;MQ0=0;MQRankSum=3.905;QD=11.94;ReadPosRankSum=-0.539;VQSLOD=2.3102;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:122,102:224:99:2705,0,3114 1 47607281 47607281 C T exonic CYP4A22 nonsynonymous SNV CYP4A22:NM_001010969:exon3:c.C376T:p.R126W,CYP4A22:NM_001308102:exon3:c.C376T:p.R126W 0.37 0.23 0.29 0.61 0.21 0.55 0.2919 0.2405 0.2915 0.6084 0.2066 0.2096 0.2764 0.5264 0.22 0.25 0.21 0.35 0.35 rs12564525 COSM5827919;COSM3746996 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.196 P -4.805 0.000 N -0.27 0.677 T 9.1 0.000 N 0.145 0.184 -0.903 0.477 T 0.000 0.000 T . . . 1.681 0.263 14.30 0.782 0.118 0.001 0.009 N c -1.512 -1.289 0.000 0.041 0.497 0.185 0 1.66 0.230 2.987 0.488 -0.155 0.108 0.997 0.399 0.011 0.114 6.861 0.231 . ENSG00000162365.7|ENSG00000162365.7 Adipose_Subcutaneous|Nerve_Tibial 0.2896 0.2383 0.2823 0.1596 0.6101 0.2135 0.2142 0.2395 0.5230 0.2389 0.2439 0.2912 0.1656 0.5881 0.2057 0.2031 0.2633 het 1344.25 129 1 47607281 . C T 1344.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.277;DP=129;Dels=0.00;FS=6.665;HRun=0;HaplotypeScore=0.8321;MQ=56.78;MQ0=0;MQRankSum=0.021;QD=10.42;ReadPosRankSum=-1.071;VQSLOD=2.9410;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,59:129:99:1374,0,1768 1 47609489 47609489 T C exonic CYP4A22 nonsynonymous SNV CYP4A22:NM_001010969:exon6:c.T691C:p.C231R 0.58 0.5 0.46 0.93 0.35 0.65 0.4542 0.4933 0.4599 0.9360 0.3743 0.3479 0.4327 0.6353 0.39 0.5 0.34 0.56 0.43 rs10789501 COSM3746998 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1 0.273 P -4.785 0.000 N -0.17 0.656 T 5.54 0.000 N 0.068 0.064 -0.930 0.442 T 0.000 0.000 T . . . -1.975 0.008 0.001 0.229 0.009 0.041 0.094 N c -2.007 -1.853 0.043 0.146 0.520 0.210 0 1.94 0.249 0.733 0.256 -0.994 0.022 0.000 0.063 0.000 0.016 3.806 0.082 . ENSG00000186160.4|ENSG00000162365.7|ENSG00000225506.2|ENSG00000186160.4|ENSG00000162365.7|ENSG00000186160.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Testis 0.4505 0.4938 0.4582 0.2399 0.9383 0.3798 0.3521 0.3938 0.6326 0.4205 0.4983 0.4558 0.2086 0.9363 0.3599 0.3349 0.4334 het 2415.78 183 1 47609489 . T C 2415.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.333;DP=183;Dels=0.00;FS=4.626;HRun=1;HaplotypeScore=6.5651;MQ=58.27;MQ0=0;MQRankSum=0.068;QD=13.20;ReadPosRankSum=0.658;VQSLOD=4.7473;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,95:183:99:2446,0,2566 1 47685455 47685455 T C exonic TAL1 synonymous SNV TAL1:NM_001290406:exon3:c.A456G:p.K152K,TAL1:NM_001287347:exon5:c.A933G:p.K311K,TAL1:NM_001290403:exon5:c.A933G:p.K311K,TAL1:NM_001290405:exon5:c.A933G:p.K311K,TAL1:NM_001290404:exon6:c.A933G:p.K311K,TAL1:NM_003189:exon6:c.A933G:p.K311K 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 0.83 0.89 rs927462 COSM3751262;COSM3751261 23(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 1611.55 48 1 47685455 . T C 1611.55 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.43;MQ0=0;QD=33.57;VQSLOD=8.7005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1645,135,0 1 47717189 47717189 A G exonic STIL synonymous SNV STIL:NM_001048166:exon17:c.T3486C:p.P1162P,STIL:NM_003035:exon17:c.T3483C:p.P1161P,STIL:NM_001282936:exon18:c.T3483C:p.P1161P,STIL:NM_001282937:exon18:c.T3432C:p.P1144P,STIL:NM_001282938:exon19:c.T3345C:p.P1115P,STIL:NM_001282939:exon19:c.T3291C:p.P1097P 0.39 0.12 0.41 0.43 0.54 0.56 0.4979 0.1617 0.4503 0.4494 0.6535 0.5397 0.5530 0.5336 0.41 0.18 0.53 0.34 0.64 rs2758735 . . Benign\x2cBenign|Benign not_specified\x2cnot_specified|Primary_Microcephaly\x2c_Recessive RCV000147697.1\x2cRCV000080044.7|RCV000265706.1 MedGen\x2cMedGen|MedGen CN169374\x2cCN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5038 0.1583 0.4400 0.6509 0.4504 0.6506 0.5255 0.5380 0.5373 0.4384 0.1619 0.4426 0.6358 0.4621 0.6309 0.5404 0.5510 het 1790.72 180 1 47717189 . A G 1790.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.741;DP=180;Dels=0.00;FS=7.740;HRun=2;HaplotypeScore=3.3644;MQ=59.66;MQ0=0;MQRankSum=-0.207;QD=9.95;ReadPosRankSum=-0.991;VQSLOD=4.4555;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,73:180:99:1821,0,3001 1 47767914 47767914 G A exonic STIL nonsynonymous SNV STIL:NM_001048166:exon4:c.C257T:p.A86V,STIL:NM_003035:exon4:c.C257T:p.A86V,STIL:NM_001282936:exon5:c.C257T:p.A86V,STIL:NM_001282937:exon5:c.C257T:p.A86V,STIL:NM_001282938:exon5:c.C257T:p.A86V,STIL:NM_001282939:exon5:c.C257T:p.A86V 0.61 0.88 0.59 0.57 0.46 0.44 0.5034 0.8402 0.5480 0.5500 0.3483 0.4622 0.4468 0.4674 0.59 0.82 0.48 0.67 0.3 rs3125630 COSM5618048 1(breast) Benign|other|Benign Primary_autosomal_recessive_microcephaly_7|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020526.1|RCV000147687.2|RCV000262563.1 MedGen:OMIM|MedGen|MedGen C2675187:612703|CN169374|CN239428 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.189 P -2.85 0.000 N 1.87 0.241 T 3.06 0.001 N 0.317 0.412 -0.967 0.379 T 0.000 0.000 T . . . 0.778 0.168 9.328 0.251 0.011 0.019 0.058 N c -0.980 -0.662 0.286 0.190 0.707 0.730 0 5.42 0.786 5.354 0.656 0.244 0.267 1.000 0.715 0.994 0.587 10.116 0.416 . ENSG00000186790.4|ENSG00000162368.9 Brain_Cerebellum|Colon_Transverse 0.4965 0.8441 0.5577 0.3479 0.5479 0.3507 0.4757 0.4615 0.4632 0.5630 0.8405 0.5561 0.3609 0.5386 0.3710 0.4608 0.4497 het 661.83 60 1 47767914 . G A 661.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.071;DP=60;Dels=0.00;FS=2.250;HRun=0;HaplotypeScore=0.0000;MQ=58.28;MQ0=0;MQRankSum=0.282;QD=11.03;ReadPosRankSum=-0.669;VQSLOD=5.5498;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:692,0,856 1 47834209 47834209 G T exonic CMPK1 nonsynonymous SNV CMPK1:NM_016308:exon2:c.G240T:p.Q80H 0.051 0.0008 0.095 0.13 0.049 0.01 0.0445 0.0098 0.0602 0.1207 0.0667 0.0444 0.0441 0.0070 0.035 0.0098 0.048 0.011 0.033 rs35687416 COSM146504 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(biliary_tract) . . . . . . . . . . . 0.003 0.682 D 0.866 0.456 P 0.279 0.385 B 0.000 0.843 D 0.000 0.810 P 1.87 0.498 L -1.08 0.771 T -2.78 0.589 D 0.093 0.094 -0.750 0.579 T 0.013 0.050 T . . . 5.466 0.742 26.2 0.995 0.682 0.967 0.700 D c 0.285 0.309 0.328 0.194 0.706 0.609 0 4.35 0.513 2.326 0.433 0.090 0.195 1.000 0.715 1.000 0.888 10.187 0.420 P-loop containing nucleoside triphosphate hydrolase . . 0.0470 0.0094 0.0606 0.0156 0.1221 0.0658 0.0467 0.0454 0.0066 0.0430 0.0107 0.0537 0.0232 0.1307 0.0644 0.0465 0.0541 het 1333.51 115 1 47834209 . G T 1333.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.435;DP=115;Dels=0.00;FS=2.383;HRun=1;HaplotypeScore=1.9717;MQ=59.68;MQ0=0;MQRankSum=-2.752;QD=11.60;ReadPosRankSum=-0.676;VQSLOD=3.8324;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,53:115:99:1364,0,1747 1 48695081 48695081 G A exonic SLC5A9 nonsynonymous SNV SLC5A9:NM_001011547:exon4:c.G454A:p.V152M,SLC5A9:NM_001135181:exon5:c.G529A:p.V177M 0.17 0.31 0.12 0.011 0.16 0.18 0.1621 0.3078 0.0837 0.0095 0.1617 0.1667 0.1523 0.1879 0.21 0.3 0.16 0.21 0.15 rs212989 COSM3751264 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.21 0.196 T 0.095 0.239 B 0.111 0.300 B 0.000 0.629 D 0.270 0.348 P -0.94 0.013 N -2.49 0.892 D -0.81 0.245 N 0.08 0.411 -1.090 0.055 T 0.000 0.000 T . . . 1.911 0.291 15.66 0.983 0.399 0.421 0.266 N c -0.439 -0.310 0.649 0.221 0.487 0.133 0 1.73 0.235 0.575 0.233 1.048 0.713 0.187 0.239 1.000 0.888 3.579 0.074 . ENSG00000117834.8|ENSG00000117834.8 Lung|Thyroid 0.1535 0.3068 0.0845 0.1560 0.0088 0.1606 0.1637 0.1692 0.1876 0.1994 0.3130 0.1074 0.1523 0.0129 0.1521 0.1720 0.1807 het 2738.48 174 1 48695081 . G A 2738.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.438;DP=174;Dels=0.00;FS=0.582;HRun=0;HaplotypeScore=0.9469;MQ=59.62;MQ0=0;MQRankSum=0.765;QD=15.74;ReadPosRankSum=-0.543;VQSLOD=6.4818;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,101:174:99:2768,0,1951 1 48697733 48697733 T G exonic SLC5A9 nonsynonymous SNV SLC5A9:NM_001011547:exon7:c.T807G:p.I269M,SLC5A9:NM_001135181:exon8:c.T882G:p.I294M 1. 1. 1. 1. 1. 1. 0.9993 1 0.9986 0.9999 1 0.9989 0.9989 0.9999 1. 1. 1. 1. 1. rs212991 COSM4144064 1(thyroid) . . . . . . . . . . . 0.999 0.021 T 0.0 0.067 B 0.001 0.121 B 0.000 0.513 N 1.000 0.810 P -0.485 0.027 N -2.35 0.881 D -0.16 0.096 N 0.095 0.095 -0.915 0.463 T 0.000 0.000 T . . . 0.292 0.122 5.614 0.268 0.013 0.271 0.230 N c -0.732 -0.498 0.883 0.256 0.554 0.283 0 4.05 0.462 1.922 0.394 0.136 0.221 1.000 0.715 0.989 0.536 5.718 0.171 . . . 0.9992 0.9999 0.9987 1 0.9999 1 0.9987 0.9996 0.9998 0.9995 0.9998 0.9952 1 1 1 0.9993 1 hom 4220.49 127 1 48697733 . T G 4220.49 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7873;MQ=59.82;MQ0=0;QD=33.23;VQSLOD=9.7833;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4220,328,0 1 48697751 48697751 C T exonic SLC5A9 synonymous SNV SLC5A9:NM_001011547:exon7:c.C825T:p.S275S,SLC5A9:NM_001135181:exon8:c.C900T:p.S300S 0.066 0.017 0.088 . 0.17 0.077 0.1345 0.0333 0.1017 0.0002 0.1391 0.1808 0.1564 0.1017 0.14 0.037 0.2 . 0.15 rs61997212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1357 0.0292 0.1091 0.1983 0.0003 0.1329 0.1826 0.1543 0.1027 0.1159 0.0322 0.1050 0.2318 0.0018 0.1361 0.1698 0.1288 het 1179.29 94 1 48697751 . C T 1179.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.362;DP=94;Dels=0.00;FS=1.888;HRun=0;HaplotypeScore=2.5978;MQ=59.31;MQ0=0;MQRankSum=-0.099;QD=12.55;ReadPosRankSum=-0.687;VQSLOD=6.3311;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,46:94:99:1209,0,1240 1 48708228 48708228 G T exonic SLC5A9 stopgain SLC5A9:NM_001011547:exon13:c.G1777T:p.E593X,SLC5A9:NM_001135181:exon14:c.G1852T:p.E618X 0.11 0.11 0.1 0.011 0.16 0.18 0.1460 0.1339 0.0731 0.0095 0.1623 0.1664 0.1417 0.1876 0.15 0.13 0.16 0.15 0.13 rs850763 COSM3751265 1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.123 0.027 N 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 8.005 0.957 35 0.956 0.266 0.061 0.120 N c -0.095 -0.433 0.999 0.392 0.487 0.133 0 2.61 0.301 1.315 0.330 0.066 0.173 0.003 0.159 0.000 0.016 9.569 0.384 . ENSG00000117834.8|ENSG00000117834.8 Lung|Thyroid 0.1398 0.1300 0.0727 0.1549 0.0088 0.1605 0.1623 0.1578 0.1864 0.1471 0.1325 0.0993 0.1523 0.0129 0.1525 0.1700 0.1684 het 1054.88 85 1 48708228 . G T 1054.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.493;DP=85;Dels=0.00;FS=0.968;HRun=0;HaplotypeScore=3.5571;MQ=59.44;MQ0=0;MQRankSum=0.697;QD=12.41;ReadPosRankSum=-0.588;VQSLOD=6.4195;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,43:85:99:1085,0,1050 1 48713206 48713206 T C exonic SLC5A9 synonymous SNV SLC5A9:NM_001011547:exon14:c.T2037C:p.Y679Y,SLC5A9:NM_001135181:exon15:c.T2112C:p.Y704Y 0.028 0.011 0.042 0.001 0.065 0.034 0.0592 0.0193 0.0306 0.0001 0.0847 0.0800 0.0540 0.0416 0.057 0.022 0.075 0.011 0.057 rs7535096 COSM4144065 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0585 0.0171 0.0302 0.0750 0.0002 0.0861 0.0784 0.0731 0.0427 0.0546 0.0196 0.0358 0.0728 0 0.0790 0.0751 0.0662 het 1852.17 169 1 48713206 . T C 1852.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.501;DP=169;Dels=0.00;FS=0.618;HRun=0;HaplotypeScore=2.1445;MQ=59.25;MQ0=0;MQRankSum=-0.717;QD=10.96;ReadPosRankSum=0.042;VQSLOD=5.7991;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,75:169:99:1882,0,2473 1 48764419 48764419 C T exonic SPATA6 nonsynonymous SNV SPATA6:NM_001286239:exon12:c.G1391A:p.C464Y,SPATA6:NM_001286238:exon13:c.G1385A:p.C462Y,SPATA6:NM_019073:exon13:c.G1433A:p.C478Y 0.27 0.025 0.33 0.35 0.43 0.34 0.3636 0.0754 0.3433 0.3560 0.3719 0.4142 0.4040 0.3534 0.31 0.089 0.42 0.16 0.34 rs1056042 COSM146506 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(skin);3(prostate);2(large_intestine) . . . . . . . . . . . 0.034 0.440 D 0.997 0.689 D 0.994 0.807 D 0.000 0.629 D 0.104 0.360 P 0.805 0.203 L 2.64 0.129 T -2.08 0.475 N 0.858 0.845 -0.865 0.509 T 0.000 0.000 T . . . 6.243 0.862 28.9 0.997 0.805 0.664 0.328 D c 0.420 0.436 0.032 0.140 0.638 0.428 0 4.78 0.605 2.175 0.419 0.852 0.362 1.000 0.715 1.000 0.888 13.188 0.589 . ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000132122.7|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000132122.7|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina 0.3681 0.0696 0.3577 0.4646 0.3492 0.3622 0.4111 0.3843 0.3530 0.3116 0.0757 0.3618 0.4867 0.3387 0.3665 0.4225 0.3809 het 3211.82 250 1 48764419 . C T 3211.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.613;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.5203;MQ=59.20;MQ0=0;MQRankSum=-0.402;QD=12.85;ReadPosRankSum=0.054;VQSLOD=4.4406;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,127:250:99:3242,0,3365 1 49201984 49201984 G A exonic BEND5 synonymous SNV BEND5:NM_001349793:exon4:c.C528T:p.G176G,BEND5:NM_001302082:exon5:c.C528T:p.G176G,BEND5:NM_024603:exon5:c.C1035T:p.G345G,BEND5:NM_001349794:exon6:c.C528T:p.G176G,BEND5:NM_001349795:exon7:c.C780T:p.G260G 0.0014 . 0.0043 0.001 0.003 . 0.0022 0.0011 0.0012 0.0005 0.0008 0.0035 0.0011 0.0002 0.0036 0.0009 0.005 . . rs114450193 COSM1343239;COSM1343240 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0008 0.0019 0.0001 0.0003 0.0008 0.0042 0.0016 0.0002 0.0022 0.0008 0 0 0 0.0006 0.0038 0.0021 het 2786.48 206 1 49201984 . G A 2786.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.856;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3460;MQ=59.41;MQ0=0;MQRankSum=1.024;QD=13.53;ReadPosRankSum=2.621;VQSLOD=3.4114;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,109:206:99:2816,0,2400 1 50661411 50661411 C T exonic ELAVL4 synonymous SNV ELAVL4:NM_001144774:exon5:c.C687T:p.P229P,ELAVL4:NM_001144775:exon5:c.C795T:p.P265P,ELAVL4:NM_001144776:exon5:c.C687T:p.P229P,ELAVL4:NM_001144777:exon5:c.C696T:p.P232P,ELAVL4:NM_001294348:exon5:c.C702T:p.P234P,ELAVL4:NM_001324208:exon5:c.C696T:p.P232P,ELAVL4:NM_001324213:exon5:c.C702T:p.P234P,ELAVL4:NM_001324215:exon5:c.C702T:p.P234P,ELAVL4:NM_021952:exon5:c.C687T:p.P229P,ELAVL4:NM_001324209:exon6:c.C684T:p.P228P,ELAVL4:NM_001324212:exon6:c.C684T:p.P228P,ELAVL4:NM_001324214:exon6:c.C684T:p.P228P 0.82 0.37 0.94 1. 0.97 0.98 0.9282 0.4373 0.9662 0.9988 0.9731 0.9699 0.9548 0.9861 0.8 0.46 0.97 0.7 0.93 rs2480683 COSM4144066;COSM4144067 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9392 0.4339 0.9607 0.9633 0.9988 0.9729 0.9707 0.9526 0.9854 0.8232 0.4454 0.9511 0.9470 1 0.9694 0.9716 0.9460 hom 4414.42 151 1 50661411 . C T 4414.42 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=29.23;VQSLOD=8.5598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:4414,358,0 1 50666515 50666515 C T exonic ELAVL4 nonsynonymous SNV ELAVL4:NM_001324208:exon7:c.C817T:p.P273S,ELAVL4:NM_001324213:exon7:c.C823T:p.P275S,ELAVL4:NM_021952:exon7:c.C808T:p.P270S 0.7 0.34 0.88 0.65 0.9 0.88 0.8398 0.4069 0.8726 0.6538 0.8390 0.9138 0.8631 0.8889 0.75 0.43 0.92 0.61 0.89 rs2494876 . . . . . . . . . . . . . 0.799 0.031 T 0.001 0.067 B 0.002 0.063 B 0.001 0.404 N 1.000 0.588 P -0.55 0.024 N 2.89 0.102 T 0.42 0.034 N 0.113 0.123 -1.017 0.247 T 0.000 0.000 T . . . 1.730 0.269 14.58 0.646 0.073 0.947 0.619 D c -0.470 -0.254 0.000 0.053 0.487 0.133 0 3.52 0.393 0.846 0.271 0.065 0.171 0.995 0.385 1.000 0.888 9.992 0.409 . . . 0.8475 0.4028 0.8723 0.9194 0.6384 0.8388 0.9173 0.8833 0.8860 0.7380 0.4086 0.8705 0.8974 0.6264 0.8359 0.9007 0.8467 hom 6484.92 211 1 50666515 . C T 6484.92 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.10;MQ0=0;QD=30.73;VQSLOD=8.7282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6484,512,0 1 51121198 51121198 T C exonic FAF1 synonymous SNV FAF1:NM_007051:exon8:c.A660G:p.V220V 0.092 0.018 0.071 0.001 0.11 0.28 0.1349 0.0323 0.0643 0.0030 0.1670 0.1390 0.1593 0.2870 0.098 0.038 0.13 0.098 0.09 rs11205753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1324 0.0278 0.0641 0.1363 0.0022 0.1694 0.1365 0.1400 0.2865 0.1119 0.0294 0.0789 0.1556 0.0018 0.1781 0.1536 0.1704 het 1045.91 75 1 51121198 . T C 1045.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.046;DP=75;Dels=0.00;FS=1.001;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;MQRankSum=-0.631;QD=13.95;ReadPosRankSum=0.281;VQSLOD=6.3539;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,39:75:99:1076,0,919 1 51826921 51826921 T C exonic EPS15 nonsynonymous SNV EPS15:NM_001159969:exon12:c.A1524G:p.I508M,EPS15:NM_001981:exon24:c.A2466G:p.I822M 0.23 0.57 0.16 0.012 0.2 0.09 0.2065 0.5231 0.1232 0.0134 0.1352 0.2249 0.1784 0.1222 0.33 0.51 0.23 0.35 0.25 rs17567 COSM4909299;COSM3735975 10(soft_tissue);1(pancreas);1(skin);1(thyroid) . . . . . . . . . . . 0.223 0.187 T 0.001 0.067 B 0.0 0.040 B . . . 1 0.199 P -1.1 0.010 N 0.98 0.421 T 0.81 0.018 N 0.053 0.035 -0.947 0.416 T 0.000 0.000 T . . . 1.996 0.301 16.19 0.907 0.194 0.179 0.198 N c -0.557 -0.292 0.043 0.146 0.732 0.924 0 5.85 0.936 0.699 0.251 -0.384 0.065 1.000 0.715 0.992 0.562 8.804 0.339 . . . 0.1945 0.5294 0.1264 0.2122 0.0119 0.1335 0.2272 0.2063 0.1227 0.2837 0.5167 0.1307 0.2483 0.0155 0.1292 0.2275 0.2065 hom 4398.29 146 1 51826921 . T C 4398.29 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.04;MQ0=0;QD=30.13;VQSLOD=8.8186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:146:99:4398,334,0 1 51873951 51873951 G A exonic EPS15 synonymous SNV EPS15:NM_001159969:exon3:c.C387T:p.Y129Y,EPS15:NM_001981:exon15:c.C1329T:p.Y443Y 0.82 0.89 0.76 0.99 0.62 0.8 0.7347 0.8791 0.8134 0.9935 0.7101 0.6595 0.6795 0.7694 0.73 0.87 0.65 0.89 0.52 rs1065754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7307 0.8826 0.8006 0.5673 0.9932 0.7065 0.6593 0.6919 0.7675 0.7522 0.8763 0.7840 0.5728 0.9975 0.7030 0.6682 0.7290 hom 4074.31 122 1 51873951 . G A 4074.31 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=33.40;VQSLOD=9.2675;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4074,325,0 1 51912760 51912760 T G exonic EPS15 synonymous SNV EPS15:NM_001981:exon10:c.A669C:p.A223A 0.047 0.098 0.027 0.011 0.033 0.043 0.0376 0.0868 0.0316 0.0123 0.0101 0.0330 0.0463 0.0534 0.048 0.079 0.032 0.065 0.025 rs34704431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0346 0.0870 0.0259 0.0275 0.0105 0.0109 0.0339 0.0415 0.0525 0.0441 0.0835 0.0215 0.0364 0.0142 0.0100 0.0340 0.0418 het 1286.43 77 1 51912760 . T G 1286.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.276;DP=77;Dels=0.00;FS=11.527;HRun=1;HaplotypeScore=3.5127;MQ=58.97;MQ0=0;MQRankSum=0.654;QD=16.71;ReadPosRankSum=0.384;VQSLOD=3.4340;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,46:77:99:1316,0,743 1 52266242 52266242 G A exonic NRDC synonymous SNV NRDC:NM_001101662:exon21:c.C2427T:p.P809P,NRDC:NM_001242361:exon23:c.C2235T:p.P745P,NRDC:NM_002525:exon23:c.C2631T:p.P877P 0.49 0.22 0.59 0.82 0.53 0.39 0.5032 0.2639 0.6036 0.8304 0.5228 0.5017 0.5099 0.4097 0.43 0.28 0.5 0.47 0.52 rs8375 COSM3747005;COSM3747004 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5166 0.2655 0.5994 0.4843 0.8333 0.5406 0.5046 0.5095 0.4117 0.4650 0.2666 0.5921 0.5430 0.8288 0.5432 0.5142 0.4611 hom 4960.05 165 1 52266242 . G A 4960.05 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=30.06;VQSLOD=9.3700;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:4960,376,0 1 52290984 52290984 T G exonic NRDC synonymous SNV NRDC:NM_001101662:exon6:c.A1011C:p.G337G,NRDC:NM_001242361:exon8:c.A819C:p.G273G,NRDC:NM_002525:exon8:c.A1215C:p.G405G 0.5 0.25 0.6 0.83 0.52 0.39 0.5039 0.2864 0.6053 0.8300 0.5121 0.4997 0.5110 0.4106 0.43 0.29 0.5 0.49 0.49 rs11205896 COSM3747006;COSM3747007 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5079 0.2804 0.5868 0.4776 0.8281 0.5255 0.4975 0.5010 0.4020 0.4677 0.2893 0.5931 0.5430 0.8253 0.5293 0.5102 0.4653 hom 2428.91 86 1 52290984 . T G 2428.91 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.24;VQSLOD=13.2791;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2462,181,0 1 52838992 52838992 A G exonic ORC1 nonsynonymous SNV ORC1:NM_001190818:exon17:c.T2447C:p.M816T,ORC1:NM_001190819:exon17:c.T2432C:p.M811T,ORC1:NM_004153:exon17:c.T2447C:p.M816T 0.0094 0.003 0.0086 . 0.035 0.002 0.0205 0.0047 0.0101 0 0.0367 0.0302 0.0143 0.0033 0.018 0.0039 0.025 . 0.025 rs34521609 . . Likely benign|Likely benign not_specified|Meier-Gorlin_syndrome RCV000117877.2|RCV000304858.1 MedGen|MedGen:Orphanet CN169374|C1868684:ORPHA2554 . . . . . . 0.302 0.144 T 0.025 0.179 B 0.05 0.239 B 0.007 0.314 N 0.987 0.405 D -0.345 0.033 N 1.1 0.390 T -1.25 0.316 N 0.124 0.140 -1.081 0.072 T 0.022 0.094 T . . . 1.544 0.247 13.55 0.736 0.101 0.992 0.929 D c -0.237 -0.033 1.000 0.517 0.707 0.730 0 5.18 0.710 6.871 0.751 1.199 0.960 1.000 0.715 0.985 0.512 15.179 0.725 Cdc6\x2c C-terminal domain|Winged helix-turn-helix DNA-binding domain ENSG00000117862.7 Whole_Blood 0.0193 0.0035 0.0093 0.0120 0 0.0377 0.0286 0.0192 0.0038 0.0200 0.0022 0.0095 0.0166 0 0.0343 0.0289 0.0357 het 1496.11 111 1 52838992 . A G 1496.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.422;DP=111;Dels=0.00;FS=5.196;HRun=0;HaplotypeScore=3.8409;MQ=59.46;MQ0=0;MQRankSum=1.513;QD=13.48;ReadPosRankSum=0.492;VQSLOD=5.1360;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,56:111:99:1526,0,1500 1 52991638 52991638 C T exonic ZCCHC11 synonymous SNV ZCCHC11:NM_001009881:exon2:c.G315A:p.P105P,ZCCHC11:NM_015269:exon2:c.G315A:p.P105P 0.29 0.015 0.51 0.43 0.37 0.26 0.3356 0.0651 0.5171 0.4602 0.4016 0.3361 0.3822 0.2823 0.25 0.077 0.33 0.29 0.29 rs12123698 COSM3747011 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3515 0.0628 0.5205 0.2913 0.4662 0.4064 0.3352 0.3660 0.2826 0.2843 0.0652 0.5072 0.2848 0.4789 0.4125 0.3445 0.3452 het 2086.48 171 1 52991638 . C T 2086.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.777;DP=171;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=6.9264;MQ=58.64;MQ0=0;MQRankSum=1.600;QD=12.20;ReadPosRankSum=0.719;VQSLOD=4.5203;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,77:171:99:2116,0,2313 1 53072454 53072454 T C exonic GPX7 synonymous SNV GPX7:NM_015696:exon2:c.T237C:p.F79F 0.88 0.97 0.88 0.8 0.84 0.87 0.8478 0.9566 0.8545 0.7817 0.8518 0.8340 0.8612 0.8623 0.88 0.95 0.84 0.88 0.85 rs1970951 COSM3997572 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8471 0.9592 0.8608 0.8652 0.7898 0.8490 0.8297 0.8541 0.8634 0.8689 0.9536 0.8732 0.8377 0.7767 0.8537 0.8346 0.8504 hom 5629.73 174 1 53072454 . T C 5629.73 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5998;MQ=59.12;MQ0=0;QD=32.35;VQSLOD=7.3197;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,173:174:99:5629,445,0 1 53250650 53250650 G A exonic ZYG11B synonymous SNV ZYG11B:NM_024646:exon5:c.G1194A:p.G398G 0.71 0.91 0.67 0.98 0.43 0.51 0.5462 0.8399 0.7262 0.9674 0.4938 0.4376 0.5507 0.4740 0.57 0.82 0.44 0.81 0.36 rs6588443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5527 0.8483 0.7208 0.5386 0.9690 0.5 0.4328 0.5239 0.4720 0.5920 0.8428 0.6885 0.55 0.9722 0.4863 0.4312 0.4980 het 1408.10 110 1 53250650 . G A 1408.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.490;DP=110;Dels=0.00;FS=2.506;HRun=1;HaplotypeScore=3.4867;MQ=59.43;MQ0=0;MQRankSum=-1.085;QD=12.80;ReadPosRankSum=0.906;VQSLOD=5.0308;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,56:110:99:1438,0,1466 1 53535478 53535478 G A exonic PODN nonsynonymous SNV PODN:NM_153703:exon2:c.G95A:p.R32H,PODN:NM_001199081:exon3:c.G38A:p.R13H,PODN:NM_001199080:exon4:c.G38A:p.R13H 0.36 0.12 0.34 0.55 0.43 0.41 0.5010 0.2523 0.5519 0.6319 0.6123 0.5294 0.5236 0.4094 0.34 0.18 0.42 0.35 0.22 rs1288386 COSM3747014;COSM3747013 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.099 0.306 T 0.345 0.318 B 0.02 0.179 B . . . 1 0.090 P . . . 0.02 0.623 T -0.19 0.123 N 0.034 0.014 -0.907 0.472 T 0.000 0.000 T . . . 1.144 0.204 11.45 0.959 0.275 0.038 0.090 N c -0.866 -0.992 0.495 0.209 0.581 0.326 0 1.03 0.191 -0.550 0.061 -0.075 0.119 0.000 0.063 0.000 0.016 4.504 0.112 . ENSG00000227644.2|ENSG00000227644.2|ENSG00000227644.2|ENSG00000121310.12 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Stomach|Whole_Blood 0.4201 0.1697 0.4229 0.4834 0.5725 0.4866 0.4191 0.4386 0.3737 0.3626 0.1655 0.4257 0.4667 0.5785 0.4934 0.4155 0.4018 het 164.92 14 1 53535478 . G A 164.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.471;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.87;MQ0=0;MQRankSum=1.365;QD=11.78;ReadPosRankSum=-1.365;VQSLOD=5.5387;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,8:14:99:195,0,153 1 53537266 53537266 G A exonic PODN synonymous SNV PODN:NM_153703:exon3:c.G516A:p.T172T,PODN:NM_001199081:exon4:c.G459A:p.T153T,PODN:NM_001199080:exon5:c.G459A:p.T153T 0.56 0.5 0.65 0.74 0.47 0.48 0.5116 0.5122 0.7411 0.7575 0.5066 0.4555 0.5291 0.4469 0.49 0.52 0.47 0.54 0.41 rs1769316 COSM3751291;COSM3751290 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5255 0.5201 0.7333 0.5217 0.7604 0.5073 0.4547 0.5192 0.4411 0.4993 0.5172 0.6890 0.5 0.7509 0.5092 0.4508 0.4673 het 657.48 61 1 53537266 . G A 657.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.822;DP=61;Dels=0.00;FS=1.006;HRun=0;HaplotypeScore=2.8093;MQ=58.31;MQ0=0;MQRankSum=0.422;QD=10.78;ReadPosRankSum=-0.941;VQSLOD=5.8355;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:687,0,790 1 53544439 53544439 G A exonic PODN synonymous SNV PODN:NM_153703:exon8:c.G1401A:p.P467P,PODN:NM_001199081:exon9:c.G1344A:p.P448P,PODN:NM_001199080:exon10:c.G1344A:p.P448P 0.41 0.15 0.48 0.29 0.73 0.5 0.5900 0.2354 0.4159 0.3015 0.7668 0.7153 0.6430 0.5058 0.57 0.26 0.73 0.36 0.61 rs1288388 COSM3997578;COSM3997579 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5954 0.2260 0.4311 0.7265 0.3042 0.7623 0.7171 0.6384 0.5102 0.5591 0.2331 0.4642 0.6821 0.2907 0.7732 0.7238 0.6670 hom 6943.78 221 1 53544439 . G A 6943.78 Mask AC=2;AF=1.00;AN=2;DP=221;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2499;MQ=59.48;MQ0=0;QD=31.42;VQSLOD=8.5254;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:6942,593,0 1 53544597 53544597 T C exonic PODN nonsynonymous SNV PODN:NM_153703:exon8:c.T1559C:p.V520A,PODN:NM_001199081:exon9:c.T1502C:p.V501A,PODN:NM_001199080:exon10:c.T1502C:p.V501A 0.56 0.4 0.58 0.33 0.9 0.66 0.7717 0.4877 0.5423 0.3871 0.897 0.8939 0.7990 0.6980 0.75 0.47 0.89 0.49 0.58 rs1288389 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.006 0.112 B 0.027 0.259 N 1 0.090 P -0.7 0.018 N 1.9 0.235 T 1.8 0.005 N 0.023 0.006 -0.959 0.395 T 0.000 0.000 T . . . -0.510 0.055 0.208 0.689 0.085 0.013 0.045 N c -0.926 -0.692 1.000 0.422 0.554 0.283 0 3.91 0.442 1.943 0.396 -0.513 0.050 0.912 0.315 0.686 0.306 11.803 0.512 Leucine-rich repeat domain\x2c L domain-like ENSG00000235563.1|ENSG00000235563.1|ENSG00000235563.1|ENSG00000162383.7 Artery_Tibial|Nerve_Tibial|Thyroid|Whole_Blood 0.7417 0.4340 0.5106 0.9232 0.3346 0.8919 0.8871 0.7963 0.6884 0.7279 0.4539 0.5538 0.9040 0.3317 0.9007 0.8893 0.8296 hom 955.55 30 1 53544597 . T C 955.55 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=31.85;VQSLOD=8.5212;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:90.21:989,90,0 1 53553702 53553702 A G exonic SLC1A7 synonymous SNV SLC1A7:NM_001287595:exon11:c.T1839C:p.S613S,SLC1A7:NM_006671:exon11:c.T1662C:p.S554S 0.94 0.79 0.99 1. 1. 1. 0.9828 0.8225 0.9916 0.9998 0.9995 0.9994 0.9905 0.9998 0.94 0.83 1. 0.9 1. rs1288400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9857 0.8170 0.9909 0.9990 0.9998 0.9996 0.9994 0.9931 0.9996 0.9482 0.8198 0.9868 0.9967 1 0.9991 0.9994 0.9908 hom 2106.18 76 1 53553702 . A G 2106.18 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=27.71;VQSLOD=7.4760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2139,177,0 1 53553754 53553754 T C exonic SLC1A7 nonsynonymous SNV SLC1A7:NM_001287595:exon11:c.A1787G:p.Q596R,SLC1A7:NM_006671:exon11:c.A1610G:p.Q537R 0.41 0.15 0.48 0.3 0.73 0.5 0.5929 0.2336 0.4154 0.3021 0.7686 0.7166 0.6477 0.5203 0.57 0.26 0.73 0.35 0.67 rs1288401 COSM146516 1(breast);1(stomach) . . . . . . . . . . . 0.346 0.124 T 0.0 0.026 B 0.0 0.013 B 0.001 0.400 N 0.004 0.431 P 1.04 0.263 L 0.79 0.491 T -0.89 0.240 N 0.127 0.144 -1.000 0.299 T 0.000 0.000 T . . . 1.543 0.247 13.54 0.954 0.262 0.942 0.602 D c -0.205 0.010 1.000 0.747 0.487 0.133 0 5.76 0.907 3.687 0.542 1.061 0.807 1.000 0.715 0.701 0.310 16.092 0.808 . ENSG00000236723.1 Brain_Hippocampus 0.5959 0.2230 0.4306 0.7249 0.3034 0.7642 0.7180 0.6394 0.5121 0.5577 0.2275 0.4665 0.6755 0.2890 0.7747 0.7240 0.6691 hom 2705.32 94 1 53553754 . T C 2705.32 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;QD=28.78;VQSLOD=7.9184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2738,217,0 1 53558270 53558270 A G exonic SLC1A7 synonymous SNV SLC1A7:NM_001287597:exon6:c.T771C:p.R257R,SLC1A7:NM_001287595:exon7:c.T987C:p.R329R,SLC1A7:NM_006671:exon7:c.T987C:p.R329R 0.85 0.74 0.92 0.95 0.83 0.84 0.8389 0.7538 0.9278 0.9595 0.8674 0.8220 0.8422 0.8235 0.81 0.76 0.84 0.73 0.67 rs1288406 COSM4144082 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8488 0.7521 0.9266 0.8062 0.9567 0.8678 0.8290 0.8459 0.8234 0.8233 0.7528 0.9079 0.7748 0.9488 0.8717 0.8348 0.8357 hom 1736.23 61 1 53558270 . A G 1736.23 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9279;MQ=59.51;MQ0=1;QD=28.46;VQSLOD=8.5128;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1769,150,0 1 53676448 53676448 G A exonic CPT2 nonsynonymous SNV CPT2:NM_000098:exon4:c.G1102A:p.V368I,CPT2:NM_001330589:exon4:c.G1102A:p.V368I 0.41 0.26 0.38 0.72 0.52 0.22 0.4841 0.2836 0.4291 0.7326 0.5312 0.5438 0.4493 0.2609 0.46 0.29 0.54 0.37 0.52 rs1799821 COSM3751293 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign|Benign Encephalopathy\x2c_acute\x2c_infection-induced\x2c_4\x2c_susceptibility_to|not_specified|Carnitine_palmitoyltransferase_II_deficiency RCV000023026.3|RCV000078116.6|RCV000202483.2 MedGen:OMIM:Orphanet|MedGen|MedGen:Orphanet:SNOMED_CT C3280160:614212:ORPHA263524|CN169374|C0342790:ORPHA157:238002005 . . . . . . 1.0 0.010 T 0.011 0.147 B 0.004 0.093 B 0.005 0.330 N 0.999 0.218 P -0.74 0.017 N -2.47 0.890 D 0.11 0.057 N 0.077 0.068 -0.955 0.402 T 0.000 0.000 T . . . -1.832 0.010 0.002 0.719 0.095 0.110 0.162 N c -1.380 -1.312 0.002 0.095 0.732 0.924 0 -0.261 0.123 -0.048 0.118 0.073 0.181 0.000 0.063 0.594 0.287 10.737 0.451 . ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9 Artery_Tibial|Esophagus_Muscularis|Muscle_Skeletal|Thyroid 0.4869 0.2788 0.4386 0.4950 0.7296 0.5352 0.5443 0.4832 0.2625 0.4707 0.2888 0.4487 0.4967 0.7367 0.5278 0.5354 0.4663 het 1174.19 85 1 53676448 . G A 1174.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.674;DP=85;Dels=0.00;FS=1.784;HRun=0;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=0.031;QD=13.81;ReadPosRankSum=0.850;VQSLOD=6.5904;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1204,0,1104 1 53712727 53712727 C T exonic LRP8 nonsynonymous SNV LRP8:NM_017522:exon16:c.G2066A:p.R689Q,LRP8:NM_033300:exon17:c.G2345A:p.R782Q,LRP8:NM_001018054:exon18:c.G2678A:p.R893Q,LRP8:NM_004631:exon19:c.G2855A:p.R952Q 0.14 0.017 0.18 0.033 0.4 0.15 0.2953 0.0705 0.1833 0.0299 0.4267 0.4032 0.28 0.1659 0.29 0.083 0.4 0.098 0.27 rs5174 COSM3751296 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other Myocardial_infarction_1 RCV000007411.2 MedGen:OMIM C1838021:608446 . . . . . . 0.049 0.424 D 1.0 0.899 D 0.996 0.832 D . . . 0.000 0.588 P 0.695 0.181 N -2.9 0.939 D -0.29 0.478 N 0.545 0.632 -1.204 0.001 T 0.000 0.000 T . . . 7.290 0.948 34 0.999 0.995 0.994 0.959 D c 0.531 0.603 1.000 0.747 0.707 0.730 0 5.43 0.789 7.185 0.771 0.852 0.362 1.000 0.715 1.000 0.888 17.432 0.874 EGF-like domain ENSG00000162384.9|ENSG00000157193.10|ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9 Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Testis 0.2940 0.0631 0.1904 0.2934 0.0318 0.4271 0.4018 0.3022 0.1597 0.2862 0.0680 0.1914 0.2848 0.0309 0.4230 0.4114 0.3306 het 753.70 56 1 53712727 . C T 753.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.312;DP=56;Dels=0.00;FS=1.097;HRun=1;HaplotypeScore=0.6651;MQ=59.59;MQ0=0;MQRankSum=0.049;QD=13.46;ReadPosRankSum=0.344;VQSLOD=6.8414;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,29:56:99:784,0,669 1 53716416 53716416 G A exonic LRP8 synonymous SNV LRP8:NM_017522:exon15:c.C2010T:p.D670D,LRP8:NM_033300:exon15:c.C2112T:p.D704D,LRP8:NM_001018054:exon17:c.C2622T:p.D874D,LRP8:NM_004631:exon17:c.C2622T:p.D874D 0.37 0.25 0.29 0.7 0.41 0.22 0.4015 0.2668 0.3712 0.7263 0.4605 0.4229 0.3789 0.2287 0.36 0.27 0.41 0.35 0.29 rs3737983 COSM3751297 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4033 0.2636 0.3784 0.3351 0.7245 0.4646 0.4226 0.3843 0.2309 0.4004 0.2705 0.3660 0.3245 0.7165 0.4613 0.4318 0.3904 het 1491.95 143 1 53716416 . G A 1491.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.476;DP=143;Dels=0.00;FS=7.567;HRun=0;HaplotypeScore=2.7300;MQ=59.22;MQ0=0;MQRankSum=-0.863;QD=10.43;ReadPosRankSum=0.394;VQSLOD=4.6314;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,61:143:99:1522,0,2179 1 53732315 53732315 G T exonic LRP8 synonymous SNV LRP8:NM_033300:exon7:c.C747A:p.G249G,LRP8:NM_017522:exon8:c.C870A:p.G290G,LRP8:NM_001018054:exon9:c.C1257A:p.G419G,LRP8:NM_004631:exon9:c.C1257A:p.G419G 0.34 0.2 0.28 0.63 0.4 0.18 0.3798 0.2258 0.3675 0.6444 0.4368 0.4124 0.3535 0.1936 0.34 0.23 0.4 0.32 0.29 rs2297660 COSM3751298 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3826 0.2246 0.3740 0.3260 0.6440 0.4424 0.4121 0.3673 0.1943 0.3731 0.2256 0.3589 0.3146 0.6310 0.4355 0.4186 0.3699 het 1708.18 152 1 53732315 . G T 1708.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.379;DP=152;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8254;MQ=59.60;MQ0=0;MQRankSum=-0.069;QD=11.24;ReadPosRankSum=0.954;VQSLOD=6.0309;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,68:152:99:1738,0,2297 1 53792651 53792651 A C exonic LRP8 nonsynonymous SNV LRP8:NM_001018054:exon2:c.T138G:p.D46E,LRP8:NM_004631:exon2:c.T138G:p.D46E,LRP8:NM_017522:exon2:c.T138G:p.D46E,LRP8:NM_033300:exon2:c.T138G:p.D46E 0.55 0.93 0.3 0.48 0.39 0.45 0.4121 0.8458 0.2372 0.4424 0.3867 0.3676 0.4343 0.4338 0.52 0.82 0.36 0.69 0.42 rs3820198 COSM3722413 2(thyroid);2(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.076 T 0.0 0.067 B 0.0 0.040 B . . . 1.000 0.810 P -0.105 0.046 N -3.61 0.950 D 0.71 0.035 N 0.031 0.029 -0.940 0.427 T 0.000 0.000 T . . . -1.028 0.031 0.014 0.617 0.066 0.043 0.098 N c -1.606 -1.545 1.000 0.747 0.442 0.072 0 0.782 0.176 -0.363 0.076 -1.086 0.019 0.015 0.189 0.617 0.292 1.535 0.024 . ENSG00000270172.1|ENSG00000157193.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.3948 0.8548 0.2428 0.4015 0.4452 0.3879 0.3601 0.3794 0.4352 0.5006 0.8457 0.2852 0.3742 0.4211 0.3978 0.3560 0.3576 hom 3133.42 102 1 53792651 . A C 3133.42 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.470;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6546;MQ=59.16;MQ0=0;MQRankSum=0.170;QD=30.72;ReadPosRankSum=-0.530;VQSLOD=7.9377;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:3,99:102:99:3166,187,0 1 54060016 54060016 G C exonic GLIS1 nonsynonymous SNV GLIS1:NM_147193:exon3:c.C560G:p.A187G 0.21 0.11 0.16 0.19 0.3 0.33 0.2893 0.1350 0.1642 0.1681 0.2673 0.3324 0.3161 0.3596 0.26 0.13 0.33 0.15 0.22 rs35227000 COSM3751299 1(thyroid);3(large_intestine) . . . . . . . . . . . 0.133 0.264 T 0.0 0.026 B 0.001 0.040 B 0.336 0.140 N 1.000 0.090 P 2.2 0.622 M 2.83 0.108 T 0.03 0.066 N 0.039 0.049 -0.904 0.476 T 0.000 0.000 T . . . 0.250 0.118 5.197 0.957 0.269 0.093 0.149 N c -0.976 -0.989 1.000 0.747 0.526 0.212 0 -1.17 0.091 0.543 0.228 0.141 0.225 0.070 0.219 0.356 0.247 5.974 0.185 . . . 0.2821 0.1225 0.1616 0.4661 0.1630 0.2614 0.3231 0.2972 0.3636 0.2466 0.1295 0.1706 0.4570 0.1463 0.2647 0.3190 0.2872 het 462.81 35 1 54060016 . G C 462.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.546;DP=35;Dels=0.00;FS=4.856;HRun=2;HaplotypeScore=0.9993;MQ=59.21;MQ0=0;MQRankSum=0.116;QD=13.22;ReadPosRankSum=-0.414;VQSLOD=5.4439;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:493,0,545 1 54060248 54060248 T C exonic GLIS1 nonsynonymous SNV GLIS1:NM_147193:exon3:c.A328G:p.T110A 0.21 0.11 0.16 0.19 0.3 0.34 0.2853 0.1239 0.1595 0.1642 0.2620 0.3240 0.3082 0.3929 0.24 0.11 0.31 0.18 0.25 rs4307514 . . . . . . . . . . . . . 0.182 0.218 T 0.0 0.026 B 0.0 0.013 B 0.059 0.224 N 1 0.090 P 0 0.065 N 3.01 0.091 T 0.15 0.053 N 0.004 0.000 -0.910 0.469 T 0.000 0.000 T . . . -1.345 0.021 0.004 0.624 0.068 0.680 0.334 D c -1.203 -1.056 0.173 0.178 0.497 0.185 0 1.81 0.240 1.307 0.329 -0.269 0.086 0.984 0.356 0.197 0.217 5.501 0.160 . . . 0.2798 0.1193 0.1590 0.4597 0.1634 0.2599 0.3195 0.2901 0.3715 0.2457 0.1284 0.1706 0.4503 0.1475 0.2635 0.3180 0.2853 het 690.22 57 1 54060248 . T C 690.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.087;DP=57;Dels=0.00;FS=7.380;HRun=1;HaplotypeScore=0.0000;MQ=57.69;MQ0=1;MQRankSum=0.544;QD=12.11;ReadPosRankSum=1.829;VQSLOD=3.6359;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,25:57:99:720,0,746 1 54272121 54272121 T C exonic NDC1 nonsynonymous SNV NDC1:NM_001168551:exon9:c.A841G:p.S281G,NDC1:NM_018087:exon9:c.A961G:p.S321G . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.031 0.450 D 0.923 0.492 P 0.519 0.463 P 0.000 0.559 D 0.803 0.810 D 2.28 0.651 M 0.8 0.488 T -2.21 0.496 N 0.258 0.314 -0.743 0.583 T 0.144 0.467 T 0.033 0.548 D 4.042 0.543 23.7 0.996 0.745 0.686 0.336 D c 0.311 0.324 0.001 0.083 0.707 0.730 0 3.89 0.439 3.409 0.522 1.011 0.635 1.000 0.715 0.983 0.502 10.742 0.452 . . . . . . . . . . . . . . . . . . . . het 1252.90 91 1 54272121 . T C 1252.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.276;DP=91;Dels=0.00;FS=4.109;HRun=1;HaplotypeScore=0.9958;MQ=58.29;MQ0=0;MQRankSum=1.124;QD=13.77;ReadPosRankSum=0.095;VQSLOD=3.7113;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,54:91:99:1283,0,887 1 54605319 54605319 - C exonic CDCP2 frameshift insertion CDCP2:NM_201546:exon4:c.1223_1224insG:p.M409Hfs*44 0.48 0.36 0.66 0.39 0.65 0.43 0.6984 0.5965 0.7315 0.6180 0.7102 0.7214 0.7037 0.6507 . . . 0.48 0.18 rs36013100 COSM291917 1(oesophagus);1(thyroid);1(large_intestine);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7025 0.5773 0.7341 0.7177 0.6221 0.7044 0.7266 0.7123 0.6465 0.6907 0.5822 0.7289 0.6844 0.6332 0.6983 0.7389 0.7255 hom 3111.14 75 1 54605319 . G GC 3111.14 Mask AC=2;AF=1.00;AN=2;DP=75;FS=0.000;HRun=0;HaplotypeScore=149.7287;MQ=61.47;MQ0=0;QD=41.48;set=variant2 GT:AD:DP:GQ:PL 1/1:0,75:75:99:3153,226,0 1 54606804 54606804 C T exonic CDCP2 nonsynonymous SNV CDCP2:NM_201546:exon3:c.G730A:p.G244R 0.82 0.77 0.79 0.87 0.85 0.84 0.8286 0.7761 0.8163 0.8896 0.7689 0.8379 0.7955 0.8252 0.82 0.78 0.85 0.76 0.8 rs3766465 . . . . . . . . . . . . . 0.164 0.233 T 0.999 0.764 D 0.934 0.652 D 0.011 0.298 N 0.000 0.588 P 1.19 0.302 L 2.32 0.166 T -1.8 0.424 N 0.215 0.264 -1.107 0.033 T 0.000 0.000 T . . . 6.141 0.847 28.4 0.999 0.995 0.986 0.844 D c 0.699 0.729 1.000 0.747 0.487 0.133 0 5.57 0.840 7.518 0.806 0.935 0.490 1.000 0.715 0.980 0.490 19.547 0.953 CUB domain . . 0.8281 0.7698 0.8209 0.8804 0.8923 0.7660 0.8391 0.8224 0.8267 0.8160 0.7647 0.8294 0.8543 0.9044 0.7610 0.8470 0.8224 het 1173.92 97 1 54606804 . C T 1173.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.134;DP=97;Dels=0.00;FS=8.447;HRun=0;HaplotypeScore=1.9198;MQ=59.18;MQ0=0;MQRankSum=0.720;QD=12.10;ReadPosRankSum=-1.109;VQSLOD=4.8601;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1204,0,1238 1 54607051 54607051 A G exonic CDCP2 synonymous SNV CDCP2:NM_201546:exon3:c.T483C:p.Y161Y 1. 0.99 1. 1. 1. 1. 0.9992 0.9911 0.9998 1 1 1.0000 1 1 1. 0.99 1. 1. 0.98 rs671103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 0.9899 0.9996 1 1 1 1.0000 0.9998 1 0.9963 0.9870 1 1 1 1 0.9999 1 hom 1668.86 56 1 54607051 . A G 1668.86 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;QD=29.80;VQSLOD=8.2559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1702,135,0 1 54681920 54681920 G C exonic MRPL37 nonsynonymous SNV MRPL37:NM_001330602:exon6:c.G1097C:p.C366S,MRPL37:NM_016491:exon6:c.G1097C:p.C366S 0.58 0.61 0.64 0.4 0.79 0.47 0.6806 0.6441 0.6120 0.4196 0.7038 0.7749 0.6960 0.4965 0.74 0.66 0.78 0.65 0.81 rs13571 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.002 0.384 N 1 0.090 P -2.89 0.000 N 2.5 0.144 T 3.24 0.001 N 0.022 0.241 -0.990 0.325 T 0.000 0.000 T . . . -0.922 0.035 0.023 0.229 0.009 0.055 0.112 N c -0.886 -0.808 0.998 0.362 0.707 0.730 0 5.38 0.772 2.140 0.415 0.067 0.174 0.041 0.208 0.015 0.124 16.303 0.826 . ENSG00000116221.11|ENSG00000116221.11 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.6778 0.6414 0.6205 0.7865 0.4181 0.7046 0.7741 0.7085 0.4944 0.6977 0.6433 0.6516 0.7848 0.3902 0.7022 0.7620 0.7016 het 1416.18 118 1 54681920 . G C 1416.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.240;DP=118;Dels=0.00;FS=0.747;HRun=0;HaplotypeScore=1.6828;MQ=59.61;MQ0=0;MQRankSum=-0.797;QD=12.00;ReadPosRankSum=1.584;VQSLOD=5.8953;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,49:118:99:1446,0,2099 1 54683856 54683856 C G exonic MRPL37 synonymous SNV MRPL37:NM_016491:exon7:c.C1206G:p.G402G 0.41 0.35 0.35 0.59 0.21 0.53 0.3170 0.3273 0.3875 0.5769 0.2974 0.2254 0.3029 0.5034 0.25 0.31 0.22 0.34 0.19 rs15921 COSM1162165 1(haematopoietic_and_lymphoid_tissue);2(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3201 0.3304 0.3785 0.2135 0.5775 0.2960 0.2260 0.2906 0.5054 0.2923 0.3230 0.3449 0.2152 0.6027 0.2978 0.2376 0.3004 het 2110.98 249 1 54683856 . C G 2110.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.723;DP=249;DS;Dels=0.00;FS=5.456;HRun=2;HaplotypeScore=7.0638;MQ=59.07;MQ0=0;MQRankSum=0.866;QD=8.48;ReadPosRankSum=0.055;VQSLOD=3.9462;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:159,89:249:99:2141,0,4287 1 55064970 55064970 C T exonic ACOT11 nonsynonymous SNV ACOT11:NM_015547:exon8:c.C766T:p.R256W,ACOT11:NM_147161:exon8:c.C766T:p.R256W 0.0036 . 0.0072 . 0.011 0.002 0.0133 0.0028 0.0031 0 0.0195 0.0200 0.0079 0.0043 0.015 0.0036 0.02 . 0.016 rs148238018 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1 0.810 D 3.845 0.958 H 1.82 0.250 T -6.11 0.900 D 0.374 0.547 -0.430 0.711 T 0.152 0.482 T . . . 8.019 0.957 35 0.999 0.989 0.986 0.847 D c 0.916 0.822 1.000 0.747 0.646 0.450 0 5.27 0.737 7.674 0.830 0.870 0.379 1.000 0.715 0.701 0.310 18.886 0.923 HotDog domain|Hotdog acyl-CoA thioesterase (ACOT)-type domain|Thioesterase domain . . 0.0128 0.0026 0.0049 0.0099 6.101e-05 0.0192 0.0196 0.0141 0.0048 0.0132 0.0031 0.0042 0.0101 0 0.0194 0.0197 0.0162 het 2634.17 166 1 55064970 . C T 2634.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.368;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7861;MQ=59.44;MQ0=0;MQRankSum=-0.686;QD=15.87;ReadPosRankSum=1.184;VQSLOD=4.2595;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,94:166:99:2664,0,1948 1 55075452 55075452 G A exonic FAM151A nonsynonymous SNV FAM151A:NM_176782:exon8:c.C1247T:p.A416V 0.3 0.2 0.36 0.18 0.54 0.29 0.4116 0.2352 0.2571 0.1752 0.4447 0.5141 0.4053 0.3280 0.43 0.25 0.52 0.25 0.4 rs1368883 . . . . . . . . . . . . . 0.317 0.137 T 0.12 0.251 B 0.045 0.231 B 0.268 0.152 N 1 0.090 P 0.81 0.209 L 2.78 0.113 T -0.76 0.212 N 0.055 0.037 -0.962 0.388 T 0.000 0.000 T . . . 0.784 0.169 9.364 0.700 0.089 0.049 0.105 N c -0.794 -0.841 0.995 0.338 0.653 0.482 0 2.26 0.273 0.211 0.171 -0.215 0.099 0.000 0.063 0.001 0.043 7.210 0.249 . ENSG00000162390.13|ENSG00000184313.15|ENSG00000184313.15|ENSG00000271723.1|ENSG00000184313.15|ENSG00000271723.1|ENSG00000184313.15|ENSG00000184313.15|ENSG00000271723.1 Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Stomach|Thyroid|Thyroid 0.4072 0.2323 0.2682 0.4868 0.1704 0.4511 0.5164 0.4363 0.3283 0.4090 0.2399 0.3103 0.4833 0.1704 0.4605 0.5220 0.4611 het 461.40 54 1 55075452 . G A 461.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.962;DP=54;Dels=0.00;FS=5.765;HRun=0;HaplotypeScore=0.9995;MQ=59.65;MQ0=0;MQRankSum=0.472;QD=8.54;ReadPosRankSum=0.472;VQSLOD=5.3859;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:491,0,844 1 55119289 55119289 G C exonic MROH7 synonymous SNV MROH7:NM_001039464:exon3:c.G690C:p.L230L 0.42 0.27 0.41 0.52 0.59 0.35 0.5070 0.3241 0.3432 0.5385 0.5784 0.5849 0.4833 0.3718 0.52 0.37 0.59 0.4 0.55 rs9332417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5047 0.3178 0.3520 0.5231 0.5373 0.5924 0.5876 0.5261 0.3726 0.5097 0.3299 0.3914 0.5199 0.5174 0.5956 0.5970 0.5481 het 1545.82 122 1 55119289 . G C 1545.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.482;DP=122;Dels=0.00;FS=0.678;HRun=0;HaplotypeScore=1.9153;MQ=58.78;MQ0=0;MQRankSum=1.180;QD=12.67;ReadPosRankSum=0.380;VQSLOD=6.5074;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,57:122:99:1576,0,1699 1 55119534 55119534 C T exonic MROH7 nonsynonymous SNV MROH7:NM_001039464:exon3:c.C935T:p.S312F 0.1 0.086 0.14 0.002 0.22 0.082 0.1782 0.1085 0.1155 0.0005 0.1875 0.2358 0.1956 0.1192 0.2 0.11 0.24 0.17 0.2 rs17399810 COSM3751309;COSM3751307;COSM3751308 1(large_intestine) . . . . . . . . . . . 0.028 0.469 D 0.998 0.899 D 0.971 0.807 D 0.520 0.117 N 1 0.403 P 0.975 0.246 L 3.47 0.052 T -2.02 0.495 N 0.145 0.179 -0.920 0.456 T 0.000 0.000 T . . . 4.327 0.579 24.0 0.997 0.819 0.130 0.174 N c -0.023 -0.192 1.000 0.446 0.516 0.203 0 3.89 0.439 2.007 0.403 0.935 0.490 0.134 0.232 0.004 0.083 11.667 0.505 . . . 0.1779 0.1087 0.1192 0.2130 0.0005 0.1958 0.2417 0.1886 0.1181 0.1869 0.1073 0.1265 0.2086 0.0006 0.1971 0.2527 0.2067 het 4089.62 247 1 55119534 . C T 4089.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.838;DP=247;DS;Dels=0.00;FS=3.608;HRun=1;HaplotypeScore=8.5904;MQ=58.93;MQ0=0;MQRankSum=0.158;QD=16.56;ReadPosRankSum=-0.635;VQSLOD=4.2202;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,127:247:99:3460,0,3248 1 55119546 55119546 A G exonic MROH7 nonsynonymous SNV MROH7:NM_001039464:exon3:c.A947G:p.E316G 0.95 0.83 0.99 1. 1. 1. 0.9873 0.8614 0.9935 1 1 0.9986 0.9956 0.9999 0.96 0.88 1. 0.92 1. rs1655518 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.483 0.050 N 1 0.090 P -0.895 0.014 N 3.68 0.042 T 0.68 0.022 N 0.057 0.040 -0.993 0.319 T 0.000 0.000 T . . . -1.290 0.022 0.005 0.066 0.000 0.001 0.004 N c -1.617 -1.562 0.964 0.287 0.516 0.203 0 0.747 0.174 -0.090 0.110 -0.816 0.031 0.000 0.063 0.000 0.016 0.925 0.012 . . . 0.9889 0.8572 0.9923 0.9856 1 1 0.9991 0.9927 0.9997 0.9615 0.8666 0.9928 0.9901 1 1 0.9991 0.9929 hom 8205.93 247 1 55119546 . A G 8205.93 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6165;MQ=59.11;MQ0=0;QD=33.22;VQSLOD=7.2363;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:247:99:8179,638,0 1 55134585 55134585 A G exonic MROH7 nonsynonymous SNV MROH7:NM_001039464:exon5:c.A1364G:p.K455R 0.033 0.041 0.037 0.018 0.031 0.036 0.0242 0.0315 0.0161 0.0175 0.0085 0.0229 0.0311 0.0402 0.025 0.031 0.022 0.011 0.0082 rs2304314 . . . . . . . . . . . . . 0.039 0.599 D 0.998 0.715 D 0.942 0.713 D 0.014 0.286 N 1 0.810 D 3.175 0.890 M 3.25 0.068 T -1.09 0.283 N 0.176 0.244 -1.219 0.001 T 0.010 0.035 T . . . 5.090 0.686 25.3 0.956 0.266 0.686 0.336 D c 0.463 0.425 0.002 0.093 0.534 0.214 0 4.17 0.481 2.600 0.457 1.199 0.960 1.000 0.715 0.948 0.423 9.376 0.373 . . . 0.0240 0.0301 0.0176 0.0468 0.0165 0.0084 0.0222 0.0254 0.0428 0.0217 0.0287 0.0251 0.0596 0.0186 0.0083 0.0201 0.0236 het 2271.17 159 1 55134585 . A G 2271.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.083;DP=159;Dels=0.00;FS=2.171;HRun=1;HaplotypeScore=8.6346;MQ=57.90;MQ0=0;MQRankSum=1.169;QD=14.28;ReadPosRankSum=0.182;VQSLOD=4.2528;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,88:159:99:2301,0,1956 1 55139741 55139741 A G exonic MROH7 nonsynonymous SNV MROH7:NM_001291332:exon8:c.A407G:p.H136R,MROH7:NM_001039464:exon10:c.A1853G:p.H618R 0.91 0.93 0.86 1. 0.8 0.94 0.8441 0.9103 0.8978 0.9997 0.8471 0.7850 0.84 0.9236 0.83 0.91 0.79 0.85 0.79 rs570218 COSM3747020;COSM3747021;COSM3747022 1(liver) . . . . . . . . . . . 1.0 0.035 T 0.0 0.026 B 0.0 0.013 B 0.004 0.339 N 1.000 0.191 P -2.42 0.001 N 4.76 0.016 T 2.41 0.004 N 0.088 0.094 -1.010 0.269 T 0.000 0.000 T . . . 0.829 0.173 9.639 0.388 0.026 0.007 0.030 N c -0.901 -0.590 0.001 0.074 0.487 0.133 0 4.65 0.575 3.108 0.498 0.070 0.177 0.996 0.391 0.988 0.529 9.028 0.352 Armadillo-type fold . . 0.8448 0.9091 0.8924 0.8217 0.9996 0.8404 0.7794 0.8313 0.9243 0.8386 0.9098 0.8747 0.8344 1 0.8428 0.7774 0.8276 het 2205.82 186 1 55139741 . A G 2205.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.697;DP=186;Dels=0.00;FS=1.862;HRun=0;HaplotypeScore=1.8455;MQ=60.00;MQ0=0;MQRankSum=-0.027;QD=11.86;ReadPosRankSum=-1.779;VQSLOD=6.0180;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:95,91:186:99:2236,0,2405 1 55166842 55166842 C T exonic MROH7 synonymous SNV MROH7:NM_001291332:exon17:c.C1686T:p.P562P,MROH7:NM_001039464:exon19:c.C3132T:p.P1044P 0.25 0.26 0.22 0.11 0.32 0.32 0.2815 0.2719 0.1602 0.1009 0.3239 0.3146 0.2763 0.3165 0.29 0.26 0.3 0.29 0.3 rs1065173 COSM1126984;COSM1126986;COSM3747024 1(breast);1(liver);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2764 0.2709 0.1627 0.2583 0.0984 0.3258 0.3175 0.2884 0.3224 0.2854 0.2707 0.2010 0.3013 0.0821 0.3325 0.3093 0.2857 het 1117.99 90 1 55166842 . C T 1117.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.743;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=58.89;MQ0=0;MQRankSum=0.792;QD=12.42;ReadPosRankSum=-0.186;VQSLOD=6.0696;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,43:90:99:1148,0,1241 1 55167773 55167773 T A exonic MROH7 nonsynonymous SNV MROH7:NM_001291332:exon18:c.T1850A:p.V617D,MROH7:NM_001039464:exon20:c.T3296A:p.V1099D 0.92 0.99 0.93 0.94 0.83 0.89 0.8727 0.9710 0.9420 0.9364 0.8334 0.8398 0.8529 0.8821 0.88 0.97 0.83 0.96 0.86 rs646356 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.888 0.073 N 1.000 0.090 P -2.14 0.001 N 1.53 0.304 T 3.73 0.001 N 0.175 0.213 -0.985 0.338 T 0.000 0.000 T . . . 0.007 0.094 2.650 0.266 0.013 0.005 0.025 N c -1.512 -1.332 0.000 0.060 0.554 0.246 0 2.63 0.303 0.595 0.236 -0.250 0.090 0.294 0.250 0.003 0.074 5.071 0.138 Armadillo-like helical|Armadillo-type fold . . 0.8728 0.9753 0.9356 0.8604 0.9392 0.8314 0.8386 0.8658 0.8792 0.8744 0.9695 0.9332 0.8633 0.9400 0.8325 0.8215 0.8296 het 702.75 64 1 55167773 . T A 702.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.764;DP=64;Dels=0.00;FS=0.971;HRun=0;HaplotypeScore=0.7340;MQ=59.64;MQ0=0;MQRankSum=-0.901;QD=10.98;ReadPosRankSum=2.181;VQSLOD=5.4086;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,30:64:99:733,0,840 1 55223992 55223992 G A exonic PARS2 synonymous SNV PARS2:NM_152268:exon2:c.C843T:p.N281N 0.0028 . 0.0029 . 0.007 0.0051 0.0051 0.0012 0.0011 0 0.0151 0.0065 0.0066 0.0031 0.0049 0.002 0.0064 . . rs145005088 . . Benign not_specified RCV000444632.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0050 0.0010 0.0016 0.0078 0 0.0138 0.0058 0.0062 0.0029 0.0049 0.0009 0.0024 0.0066 0 0.0140 0.0054 0.0112 het 1606.78 140 1 55223992 . G A 1606.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.213;DP=140;Dels=0.00;FS=11.945;HRun=0;HaplotypeScore=5.1868;MQ=59.80;MQ0=0;MQRankSum=-0.142;QD=11.48;ReadPosRankSum=-0.929;VQSLOD=2.3653;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,63:140:99:1637,0,2252 1 55251689 55251689 T C exonic TTC22 synonymous SNV TTC22:NM_001114108:exon5:c.A987G:p.E329E,TTC22:NM_017904:exon5:c.A987G:p.E329E 1. 1. 1. 1. 1. 1. 0.9993 0.9926 0.9991 1 1 1 0.9989 1 1. 0.99 1. 1. 1. rs586462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9929 0.9995 1 1 1 1 0.9993 1 0.9975 0.9914 1 1 1 1 1 0.9990 hom 2906.47 83 1 55251689 . T C 2906.47 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8675;MQ=59.16;MQ0=0;QD=35.02;VQSLOD=8.7032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2939,229,0 1 55266797 55266797 G C exonic TTC22 nonsynonymous SNV TTC22:NM_001114108:exon1:c.C40G:p.L14V,TTC22:NM_017904:exon1:c.C40G:p.L14V 0.15 0.026 0.23 0.26 0.24 0.071 0.1988 0.0583 0.2030 0.2903 0.2455 0.2280 0.2190 0.0948 0.15 0.057 0.2 0.087 0.16 rs671108 COSM3751313;COSM3751312 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.987 0.807 D 0.000 0.629 D 0.000 0.506 P 2.28 0.651 M 0.17 0.608 T -0.66 0.191 N 0.181 0.221 -1.148 0.011 T 0.000 0.000 T . . . 3.634 0.494 23.2 0.994 0.648 0.769 0.375 D c 0.514 0.456 1.000 0.747 0.598 0.340 0 4.13 0.475 1.990 0.401 0.923 0.433 1.000 0.715 0.988 0.529 15.674 0.770 . ENSG00000162398.7|ENSG00000162398.7 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.1968 0.0521 0.1999 0.2177 0.2895 0.2351 0.2190 0.2155 0.0954 0.1651 0.0541 0.1842 0.2086 0.3150 0.2460 0.1918 0.1810 het 440.62 51 1 55266797 . G C 440.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.117;DP=51;Dels=0.00;FS=1.144;HRun=0;HaplotypeScore=2.8127;MQ=58.44;MQ0=0;MQRankSum=0.160;QD=8.64;ReadPosRankSum=-1.259;VQSLOD=5.2392;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,20:51:99:471,0,900 1 55277599 55277599 T C exonic LEXM nonsynonymous SNV LEXM:NM_001110533:exon5:c.T613C:p.Y205H,LEXM:NM_152607:exon5:c.T613C:p.Y205H 1. 1. 1. 1. 1. 1. 1.0000 0.9995 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs600499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9995 1 1 1 1 1 1 1 0.9999 0.9998 1 1 1 1 1 1 hom 3438.46 107 1 55277599 . T C 3438.46 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6722;MQ=58.64;MQ0=0;QD=32.14;VQSLOD=8.4442;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3438,271,0 1 55523033 55523033 A G exonic PCSK9 synonymous SNV PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q 0.98 0.93 1. 1. 1. 1. 0.9945 0.9420 0.9982 1 0.9997 0.9996 0.9956 0.9999 0.98 0.94 1. 0.96 1. rs509504 . . Benign|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000249882.2|RCV000256296.2|RCV000337265.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9958 0.9412 0.9974 1 1 0.9999 0.9997 0.9982 0.9999 0.9829 0.9397 0.9976 1 1 1 1 1 hom 4635.56 144 1 55523033 . A G 4635.56 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1527;MQ=59.10;MQ0=0;QD=32.19;VQSLOD=7.0055;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4635,370,0 1 55524197 55524197 A G exonic PCSK9 synonymous SNV PCSK9:NM_174936:exon9:c.A1380G:p.V460V 0.87 0.77 0.89 0.99 0.82 0.91 0.8544 0.7851 0.9245 0.9914 0.8257 0.8326 0.8794 0.8751 0.82 0.79 0.83 0.86 0.86 rs540796 COSM3747025 1(liver) Benign|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000182574.3|RCV000256294.2|RCV000273530.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8564 0.7858 0.9148 0.8146 0.9923 0.8273 0.8316 0.8674 0.8739 0.8316 0.7927 0.9069 0.8245 0.9988 0.8171 0.8337 0.8582 hom 4298.01 144 1 55524197 . A G 4298.01 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2135;MQ=58.86;MQ0=0;QD=29.85;VQSLOD=9.0514;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4297,331,0 1 55524237 55524237 G A exonic PCSK9 nonsynonymous SNV PCSK9:NM_174936:exon9:c.G1420A:p.V474I 0.87 0.77 0.89 0.99 0.82 0.9 0.8544 0.7853 0.9244 0.9914 0.8255 0.8327 0.8794 0.8751 0.82 0.79 0.83 0.83 0.84 rs562556 COSM3722998 1(thyroid);1(upper_aerodigestive_tract) Benign|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000182572.3|RCV000256256.2|RCV000330942.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . 0.412 0.101 T 0.013 0.154 B 0.002 0.063 B 0.007 0.012 N 1 0.090 P 1.555 0.395 L -0.52 0.707 T -0.27 0.114 N 0.043 0.023 -0.970 0.373 T 0.000 0.000 T . . . -1.303 0.022 0.004 0.829 0.140 0.055 0.112 N c -1.808 -1.932 1.000 0.747 0.706 0.609 0 -8.95 0.007 -0.619 0.056 -2.003 0.005 0.000 0.063 0.000 0.016 3.846 0.084 . ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8564 0.7858 0.9147 0.8146 0.9923 0.8273 0.8316 0.8674 0.8738 0.8315 0.7928 0.9069 0.8245 0.9988 0.8170 0.8334 0.8571 hom 2609.38 84 1 55524237 . G A 2609.38 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3888;MQ=58.89;MQ0=0;QD=31.06;VQSLOD=8.9310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2642,223,0 1 55529187 55529187 G A exonic PCSK9 nonsynonymous SNV PCSK9:NM_174936:exon12:c.G2009A:p.G670E 0.9 0.71 0.96 0.96 0.97 0.97 0.9433 0.7414 0.9754 0.9460 0.9444 0.9603 0.9553 0.9753 0.89 0.74 0.96 0.77 0.84 rs505151 . . other|Benign|Likely benign Familial_hypercholesterolemia|not_specified|Familial_hypobetalipoproteinemia RCV000030349.2|RCV000252382.2|RCV000364880.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0020445:143890:397915002:398036000|CN169374|C1862596:ORPHA426:60193003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.339 0.140 N 1 0.090 P -2.34 0.001 N -0.35 0.686 T 0.52 0.029 N 0.02 0.004 -0.976 0.359 T 0.000 0.000 T . . . -1.402 0.019 0.003 0.586 0.059 0.010 0.038 N c -1.609 -1.587 1.000 0.405 0.706 0.609 0 0.348 0.152 0.938 0.284 0.188 0.248 0.003 0.159 0.001 0.043 4.570 0.115 . . . 0.9481 0.7361 0.9728 0.9461 0.9480 0.9464 0.9621 0.9565 0.9757 0.8930 0.7349 0.9761 0.9437 0.9427 0.9485 0.9569 0.9532 hom 2378.82 78 1 55529187 . G A 2378.82 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7249;MQ=58.58;MQ0=0;QD=30.50;VQSLOD=8.7871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2412,193,0 1 55541174 55541174 A G exonic USP24 nonsynonymous SNV USP24:NM_015306:exon63:c.T7403C:p.V2468A 0.69 0.26 0.85 0.92 0.77 0.85 0.7697 0.3596 0.8929 0.9040 0.7798 0.7696 0.7990 0.8326 0.64 0.36 0.77 0.64 . rs487230 COSM3747027;COSM3747026 1(liver) . . . . . . . . . . . 0.367 0.116 T 0.0 0.026 B 0.001 0.040 B 0.001 0.431 D 0.695 0.301 P 0.49 0.133 N 4.45 0.022 T -0.4 0.138 N 0.217 0.266 -1.024 0.222 T 0.000 0.000 T . . . 1.608 0.255 13.90 0.982 0.383 0.952 0.637 D c -0.420 -0.175 0.866 0.253 0.732 0.924 0 4.22 0.490 5.115 0.643 1.199 0.960 1.000 0.715 0.998 0.697 11.412 0.490 . ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7669 0.3073 0.8767 0.7234 0.9074 0.7706 0.7606 0.7961 0.8240 0.6462 0.3206 0.8628 0.7318 0.9105 0.7738 0.7544 0.7862 hom 466.35 19 1 55541174 . A G 466.35 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.74;MQ0=0;QD=24.54;VQSLOD=7.6237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:36.12:499,36,0 1 55638075 55638075 G A exonic USP24 nonsynonymous SNV USP24:NM_015306:exon4:c.C677T:p.T226I 0.91 0.87 0.92 0.99 0.84 0.93 0.8763 0.8657 0.9395 0.9952 0.8756 0.8457 0.9004 0.8990 0.85 0.87 0.84 0.91 . rs1165222 COSM3747031;COSM3747030 1(liver) . . . . . . . . . . . 0.669 0.046 T 0.0 0.026 B 0.0 0.013 B 0.125 0.188 N 1.000 0.090 P -1.39 0.006 N 4.43 0.022 T 0.47 0.031 N 0.025 0.007 -0.996 0.309 T 0.000 0.000 T . . . 1.469 0.239 13.15 0.737 0.101 0.400 0.261 N c -0.681 -0.448 0.001 0.082 0.732 0.924 0 2.19 0.268 2.994 0.489 -0.166 0.106 0.998 0.411 0.995 0.604 9.352 0.371 . ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8 Adipose_Subcutaneous|Artery_Tibial|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8773 0.8662 0.9290 0.8180 0.9959 0.8774 0.8444 0.8845 0.8967 0.8669 0.8613 0.9211 0.8278 0.9969 0.8703 0.8517 0.8880 hom 853.18 28 1 55638075 . G A 853.18 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.47;VQSLOD=14.1445;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:69.22:886,69,0 1 57340727 57340727 C A exonic C8A nonsynonymous SNV C8A:NM_000562:exon3:c.C277A:p.Q93K 0.34 0.18 0.25 0.5 0.34 0.48 0.3684 0.2120 0.2106 0.4553 0.3488 0.3787 0.3850 0.4968 0.32 0.21 0.38 0.34 0.34 rs652785 COSM4417048 1(haematopoietic_and_lymphoid_tissue) Benign|Benign COMPLEMENT_COMPONENT_8\x2c_ALPHA_SUBUNIT\x2c_A/B_POLYMORPHISM|not_specified RCV000018567.2|RCV000455609.1 MedGen CN169374 . . . . . . 0.639 0.050 T 0.048 0.207 B 0.012 0.149 B 0.481 0.122 N 1 0.090 P -0.255 0.038 N -0.91 0.750 T -0.91 0.245 N 0.065 0.051 -0.991 0.323 T 0.000 0.000 T . . . -0.648 0.047 0.096 0.654 0.075 0.045 0.100 N c -0.612 -0.599 0.937 0.272 0.487 0.133 0 3.42 0.381 0.033 0.135 0.935 0.490 0.000 0.063 0.333 0.243 10.121 0.416 Growth factor receptor cysteine-rich domain . . 0.3654 0.2046 0.2100 0.4077 0.4640 0.3495 0.3822 0.3583 0.4983 0.3259 0.2097 0.2231 0.4133 0.4590 0.3321 0.3796 0.3602 het 869.26 75 1 57340727 . C A 869.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.922;DP=75;Dels=0.00;FS=0.883;HRun=2;HaplotypeScore=0.0000;MQ=57.74;MQ0=0;MQRankSum=-0.496;QD=11.59;ReadPosRankSum=0.838;VQSLOD=4.8421;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,33:75:99:899,0,1158 1 57395228 57395228 G A exonic C8B nonsynonymous SNV C8B:NM_000066:exon12:c.C1625T:p.T542I,C8B:NM_001278543:exon13:c.C1469T:p.T490I,C8B:NM_001278544:exon13:c.C1439T:p.T480I 0.0026 0.0015 0.0029 . 0.006 0.0031 0.0050 0.0012 0.0028 0 0.0018 0.0077 0.0066 0.0021 0.0068 0.0018 0.0094 . . rs61737417 . . . . . . . . . . . . . 0.894 0.099 T 0.0 0.026 B 0.0 0.013 B 0.253 0.155 N 1 0.090 N -0.955 0.012 N 1.82 0.276 T -0.39 0.170 N 0.042 0.162 -1.038 0.178 T 0.018 0.077 T 0.003 0.053 T -0.850 0.038 0.033 0.045 0.000 0.007 0.029 N c -1.134 -1.071 0.002 0.089 0.487 0.133 0 3.75 0.421 2.202 0.421 0.244 0.267 0.139 0.233 0.032 0.149 2.259 0.038 . . . 0.0050 0.0012 0.0034 0.0005 0 0.0021 0.0087 0.0035 0.0020 0.0052 0.0011 0.0060 0 0 0.0017 0.0089 0.0061 het 1062.01 85 1 57395228 . G A 1062.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.765;DP=85;Dels=0.00;FS=4.328;HRun=0;HaplotypeScore=0.9665;MQ=59.73;MQ0=0;MQRankSum=-1.114;QD=12.49;ReadPosRankSum=1.730;VQSLOD=4.8496;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1092,0,996 1 57422484 57422484 C T exonic C8B nonsynonymous SNV C8B:NM_000066:exon3:c.G349A:p.G117R,C8B:NM_001278543:exon4:c.G193A:p.G65R,C8B:NM_001278544:exon4:c.G163A:p.G55R 0.99 1. 0.97 1. 0.97 0.99 0.9773 0.9937 0.9774 0.9999 0.9835 0.9683 0.9703 0.9896 0.98 0.99 0.97 0.97 0.95 rs1013579 . . . . . . . . . . . . . 1.0 0.024 T 0.0 0.026 B 0.0 0.013 B 0.014 0.286 N 1.000 0.182 P . . . 1.89 0.267 T 2.86 0.002 N 0.173 0.210 -0.949 0.412 T 0.000 0.000 T . . . 1.761 0.273 14.76 0.531 0.048 0.104 0.157 N c -0.712 -0.587 0.254 0.187 0.487 0.133 0 -0.165 0.126 0.950 0.285 0.154 0.240 1.000 0.715 0.981 0.494 10.316 0.427 . . . 0.9774 0.9946 0.9760 0.9735 0.9999 0.9818 0.9687 0.9655 0.9896 0.9785 0.9945 0.9821 0.9702 1 0.9794 0.9666 0.9786 hom 8583.55 250 1 57422484 . C T 8583.55 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5488;MQ=59.35;MQ0=0;QD=34.33;VQSLOD=8.9905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8583,680,0 1 59002221 59002221 T C exonic OMA1 synonymous SNV OMA1:NM_145243:exon3:c.A693G:p.E231E 0.15 0.23 0.1 0.14 0.12 0.1 0.1183 0.1885 0.0736 0.1229 0.0938 0.1179 0.1192 0.1145 0.14 0.18 0.12 0.21 0.12 rs7537470 COSM3751322;COSM3751321 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1134 0.1926 0.0723 0.1175 0.1243 0.0967 0.1148 0.1292 0.1156 0.1331 0.1921 0.1038 0.1358 0.1180 0.0950 0.1128 0.1033 het 975.55 73 1 59002221 . T C 975.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.040;DP=73;Dels=0.00;FS=0.936;HRun=0;HaplotypeScore=1.9990;MQ=57.98;MQ0=0;MQRankSum=2.123;QD=13.36;ReadPosRankSum=0.094;VQSLOD=5.0080;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,40:73:99:1006,0,774 1 59002282 59002282 A C exonic OMA1 nonsynonymous SNV OMA1:NM_145243:exon3:c.T632G:p.F211C 0.045 0.0083 0.011 0.14 0.0089 0.06 0.0262 0.0085 0.0103 0.1207 0.0192 0.0133 0.0297 0.0539 0.011 0.0098 0.012 0.054 0.033 rs17117699 . . . . . . . . . . . . . 0.003 0.721 D 0.999 0.764 D 0.887 0.654 P 0.000 0.843 D 0.000 0.537 P 2.47 0.719 M 2.29 0.288 T -3.88 0.727 D 0.378 0.525 -1.105 0.035 T 0.003 0.010 T . . . 5.751 0.786 27.0 0.995 0.682 0.975 0.751 D c 0.365 0.446 0.931 0.270 0.732 0.924 0 5.49 0.809 5.636 0.673 1.197 0.919 1.000 0.715 1.000 0.888 15.778 0.779 . ENSG00000162600.7 Muscle_Skeletal 0.0264 0.0092 0.0099 0.0128 0.1226 0.0209 0.0134 0.0206 0.0551 0.0188 0.0104 0.0107 0.0166 0.1157 0.0209 0.0137 0.0132 het 1190.22 74 1 59002282 . A C 1190.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.454;DP=74;Dels=0.00;FS=3.195;HRun=0;HaplotypeScore=1.6918;MQ=58.93;MQ0=0;MQRankSum=-1.009;QD=16.08;ReadPosRankSum=1.109;VQSLOD=5.5972;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,46:74:99:1220,0,701 1 59004617 59004617 G A exonic OMA1 nonsynonymous SNV OMA1:NM_145243:exon2:c.C350T:p.P117L 0.042 . 0.01 0.14 0.0089 0.06 0.0257 0.0033 0.0098 0.1207 0.0191 0.0133 0.0242 0.0538 0.0089 0.003 0.012 0.054 0.025 rs17117720 . . . . . . . . . . . . . 0.005 0.632 D 0.016 0.522 B 0.007 0.438 B 0.057 0.225 N 1.000 0.186 P 1.7 0.440 L 2.47 0.336 T -1.96 0.745 N 0.136 0.319 -1.074 0.085 T 0.001 0.003 T . . . 0.879 0.178 9.940 0.606 0.063 0.040 0.092 N c -0.365 -0.427 0.000 0.071 0.707 0.730 0 4.04 0.461 -0.598 0.058 1.048 0.713 0.000 0.063 0.018 0.130 5.631 0.167 . ENSG00000162600.7 Muscle_Skeletal 0.0259 0.0041 0.0094 0.0128 0.1225 0.0209 0.0134 0.0202 0.0550 0.0167 0.0033 0.0095 0.0166 0.1146 0.0206 0.0137 0.0132 het 1776.90 141 1 59004617 . G A 1776.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.196;DP=141;Dels=0.00;FS=4.272;HRun=1;HaplotypeScore=5.2096;MQ=59.10;MQ0=0;MQRankSum=-1.069;QD=12.60;ReadPosRankSum=1.404;VQSLOD=4.4970;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,65:141:99:1807,0,2076 1 59042181 59042181 G T exonic TACSTD2 nonsynonymous SNV TACSTD2:NM_002353:exon1:c.C648A:p.D216E 0.16 0.34 0.053 0.14 0.05 0.11 0.0976 0.3516 0.0367 0.1247 0.0514 0.0730 0.0774 0.0948 0.15 0.31 0.067 0.17 0.082 rs14008 . . Likely benign Corneal_Dystrophy\x2c_Dominant/Recessive RCV000352006.1 MedGen CN239339 . . . . . . 0.191 0.210 T 0.057 0.214 B 0.02 0.179 B 0.037 0.244 N 0.782 0.293 P 1.015 0.255 L -1.1 0.773 T -2.52 0.547 D 0.084 0.078 -1.065 0.107 T 0.000 0.000 T . . . 1.626 0.257 14.00 0.941 0.237 0.426 0.267 N c -0.663 -0.576 1.000 0.747 0.765 0.991 0 0.165 0.142 0.002 0.129 0.884 0.388 0.989 0.365 0.955 0.433 5.126 0.141 . . . 0.0860 0.3354 0.0364 0.0915 0.1228 0.0501 0.0682 0.0667 0.0930 0.1431 0.3356 0.0406 0.0894 0.1168 0.0512 0.0672 0.0663 het 180.52 30 1 59042181 . G T 180.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.003;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.966;QD=6.02;ReadPosRankSum=0.118;VQSLOD=10.4384;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,9:30:99:211,0,506 1 59127086 59127086 G A exonic MYSM1 synonymous SNV MYSM1:NM_001085487:exon18:c.C2262T:p.L754L 0.25 0.13 0.24 0.31 0.28 0.3 0.2821 0.1663 0.2917 0.2790 0.2003 0.2937 0.2709 0.3337 0.26 0.17 0.29 0.25 0.22 rs7523134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2809 0.1647 0.2878 0.3360 0.2817 0.1995 0.2933 0.2973 0.3247 0.2348 0.1666 0.2962 0.3775 0.2624 0.1981 0.2719 0.2638 het 418.07 27 1 59127086 . G A 418.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.080;DP=27;Dels=0.00;FS=1.599;HRun=1;HaplotypeScore=0.8321;MQ=58.27;MQ0=0;MQRankSum=0.377;QD=15.48;ReadPosRankSum=1.381;VQSLOD=5.2062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,17:27:99:448,0,240 1 59142713 59142713 T C exonic MYSM1 synonymous SNV MYSM1:NM_001085487:exon9:c.A1275G:p.P425P 0.65 0.71 0.67 0.63 0.59 0.62 0.6118 0.6863 0.6487 0.6532 0.7191 0.5819 0.6111 0.5978 0.61 0.67 0.58 0.63 0.65 rs579110 COSM3751324 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6125 0.6879 0.6426 0.5059 0.6508 0.7163 0.5807 0.5969 0.5991 0.6555 0.6939 0.6376 0.4901 0.6714 0.7215 0.6210 0.6462 het 1844.47 175 1 59142713 . T C 1844.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.338;DP=175;Dels=0.00;FS=1.939;HRun=0;HaplotypeScore=6.7101;MQ=58.88;MQ0=0;MQRankSum=-0.626;QD=10.54;ReadPosRankSum=0.301;VQSLOD=4.6947;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,82:175:99:1874,0,2151 1 59147926 59147926 T C exonic MYSM1 nonsynonymous SNV MYSM1:NM_001085487:exon8:c.A790G:p.T264A 0.63 0.66 0.66 0.63 0.59 0.62 0.6078 0.6343 0.6473 0.6527 0.7204 0.5826 0.6078 0.5977 0.59 0.62 0.58 0.59 0.66 rs12139511 COSM3751325 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.933 0.075 N 1 0.090 P -1.61 0.004 N 2.01 0.213 T 0.11 0.057 N 0.008 0.000 -0.946 0.417 T 0.000 0.000 T . . . -1.412 0.019 0.003 0.127 0.002 0.012 0.043 N c -1.354 -1.283 0.002 0.089 0.660 0.495 0 0.948 0.186 0.227 0.174 -0.052 0.122 0.001 0.137 0.908 0.386 0.666 0.008 . ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Pancreas|Thyroid 0.6088 0.6348 0.6377 0.5067 0.6498 0.7171 0.5811 0.5917 0.5986 0.6411 0.6393 0.6328 0.4933 0.6714 0.7224 0.6231 0.6462 het 1584.27 146 1 59147926 . T C 1584.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.887;DP=146;Dels=0.00;FS=10.240;HRun=0;HaplotypeScore=5.5652;MQ=59.17;MQ0=0;MQRankSum=0.242;QD=10.85;ReadPosRankSum=-1.093;VQSLOD=3.9358;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,62:146:99:1614,0,2189 1 59247993 59247993 C T exonic JUN synonymous SNV JUN:NM_002228:exon1:c.G750A:p.Q250Q 0.089 0.25 0.055 0.024 0.039 0.016 0.0575 0.2118 0.0282 0.0292 0.0540 0.0526 0.0588 0.0184 0.1 0.2 0.05 0.043 0.041 rs11688 COSM3751326 1(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0529 0.2157 0.0324 0.0189 0.0284 0.0487 0.0538 0.0514 0.0185 0.0934 0.2059 0.0430 0.0199 0.0241 0.0475 0.0527 0.0591 het 1667.14 132 1 59247993 . C T 1667.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.938;DP=132;Dels=0.00;FS=1.391;HRun=1;HaplotypeScore=1.7882;MQ=59.18;MQ0=0;MQRankSum=0.633;QD=12.63;ReadPosRankSum=0.578;VQSLOD=6.8576;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,65:132:99:1697,0,1850 1 59787350 59787350 T G exonic FGGY nonsynonymous SNV FGGY:NM_001113411:exon2:c.T129G:p.N43K,FGGY:NM_001244714:exon2:c.T129G:p.N43K,FGGY:NM_001350790:exon2:c.T129G:p.N43K,FGGY:NM_001350791:exon2:c.T129G:p.N43K,FGGY:NM_001350794:exon2:c.T129G:p.N43K,FGGY:NM_001350795:exon2:c.T129G:p.N43K,FGGY:NM_018291:exon2:c.T129G:p.N43K 0.47 0.55 0.41 0.48 0.35 0.51 0.4018 0.5256 0.3802 0.5190 0.4147 0.3557 0.3990 0.4599 0.39 0.51 0.34 0.46 . rs835409 COSM146529 1(stomach);1(pancreas);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.647 0.100 T 0.0 0.026 B 0.0 0.013 B 0.024 0.264 N 1 0.090 P -0.895 0.014 N 0.37 0.577 T 0.39 0.042 N 0.01 0.129 -0.931 0.440 T 0.000 0.000 T . . . 0.966 0.186 10.47 0.924 0.213 0.019 0.058 N c -1.168 -1.097 0.014 0.126 0.638 0.428 0 0.051 0.136 -1.277 0.029 -0.334 0.073 0.000 0.063 0.962 0.444 1.322 0.020 Carbohydrate kinase\x2c FGGY\x2c N-terminal ENSG00000270457.1 Muscle_Skeletal 0.3861 0.5149 0.3650 0.3537 0.5089 0.4038 0.3402 0.3734 0.4423 0.4120 0.5186 0.3675 0.3543 0.5031 0.4123 0.3472 0.3609 het 413.77 32 1 59787350 . T G 413.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.906;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6289;MQ=59.28;MQ0=0;MQRankSum=-0.302;QD=12.93;ReadPosRankSum=-2.266;VQSLOD=4.1806;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,17:32:99:444,0,412 1 59844471 59844471 G A exonic FGGY synonymous SNV FGGY:NM_001244714:exon3:c.G252A:p.P84P,FGGY:NM_001350795:exon3:c.G252A:p.P84P,FGGY:NM_001350796:exon4:c.G180A:p.P60P,FGGY:NM_001350797:exon4:c.G114A:p.P38P,FGGY:NM_001350798:exon4:c.G180A:p.P60P,FGGY:NM_001350799:exon4:c.G180A:p.P60P,FGGY:NM_001113411:exon5:c.G516A:p.P172P,FGGY:NM_001350790:exon5:c.G516A:p.P172P,FGGY:NM_001350791:exon5:c.G516A:p.P172P,FGGY:NM_001350794:exon5:c.G516A:p.P172P,FGGY:NM_018291:exon5:c.G516A:p.P172P,FGGY:NM_001350792:exon7:c.G348A:p.P116P,FGGY:NM_001350793:exon7:c.G348A:p.P116P 0.49 0.68 0.41 0.43 0.4 0.47 0.4233 0.6345 0.3870 0.4865 0.4775 0.3826 0.4053 0.4263 0.46 0.63 0.38 0.55 0.37 rs835435 COSM3997615;COSM3997616 1(breast);1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4198 0.6391 0.3896 0.3730 0.4904 0.4814 0.3795 0.4049 0.4233 0.4826 0.6357 0.4033 0.3411 0.4863 0.4883 0.4037 0.4122 het 646.84 57 1 59844471 . G A 646.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.433;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.01;MQ0=0;MQRankSum=0.549;QD=11.35;ReadPosRankSum=-0.467;VQSLOD=6.2372;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,28:57:99:677,0,667 1 60466814 60466814 T C exonic C1orf87 nonsynonymous SNV C1orf87:NM_152377:exon10:c.A1207G:p.K403E 0.55 0.61 0.62 0.63 0.45 0.45 0.5038 0.6074 0.6289 0.6450 0.4400 0.4675 0.5251 0.4465 0.51 0.6 0.46 0.59 0.48 rs626251 COSM3751332;COSM3751331 1(oesophagus);1(large_intestine) . . . . . . . . . . . 1.0 0.027 T 0.0 0.026 B 0.0 0.013 B 0.161 0.177 N 1 0.090 P -0.28 0.037 N 2.43 0.153 T 0.63 0.033 N 0.005 0.241 -0.951 0.408 T 0.000 0.000 T . . . -1.179 0.026 0.007 0.323 0.019 0.001 0.006 N c -1.307 -1.237 0.000 0.035 0.554 0.246 0 2.19 0.268 0.131 0.156 -0.819 0.031 0.001 0.137 0.006 0.095 6.824 0.229 . . . 0.5003 0.6063 0.6228 0.5615 0.6420 0.4445 0.4547 0.5030 0.4440 0.5077 0.6008 0.6129 0.6067 0.6517 0.4395 0.4487 0.4640 het 225.81 18 1 60466814 . T C 225.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.400;DP=18;Dels=0.00;FS=4.598;HRun=1;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;MQRankSum=0.844;QD=12.54;ReadPosRankSum=0.489;VQSLOD=4.3327;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,10:18:99:256,0,188 1 60506762 60506762 G A exonic C1orf87 synonymous SNV C1orf87:NM_152377:exon4:c.C384T:p.T128T 0.053 0.023 0.072 0.065 0.075 0.046 0.0581 0.0298 0.0591 0.0723 0.0360 0.0675 0.0629 0.0383 0.06 0.03 0.075 0.11 0.041 rs74843231 COSM146530 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0588 0.0295 0.0611 0.0470 0.0699 0.0363 0.0720 0.0557 0.0377 0.0564 0.0300 0.0716 0.0563 0.0581 0.0373 0.0742 0.0704 het 1075.08 90 1 60506762 . G A 1075.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.517;DP=90;Dels=0.00;FS=1.864;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=1.475;QD=11.95;ReadPosRankSum=0.176;VQSLOD=5.8472;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,38:90:99:1105,0,1451 1 62232031 62232031 C T exonic PATJ synonymous SNV PATJ:NM_001350145:exon4:c.C270T:p.I90I,PATJ:NM_176877:exon4:c.C270T:p.I90I 0.91 0.7 0.97 1. 0.98 0.99 0.9636 0.7373 0.9826 0.9998 0.9852 0.9819 0.9725 0.9906 0.9 0.75 0.98 0.88 0.96 rs1286835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9680 0.7313 0.9795 0.9757 0.9999 0.9860 0.9814 0.9722 0.9904 0.9132 0.7292 0.9761 0.9834 1 0.9894 0.9845 0.9695 hom 3224.61 108 1 62232031 . C T 3224.61 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.98;MQ0=0;QD=29.86;VQSLOD=8.1817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3258,259,0 1 62257036 62257036 A C exonic PATJ nonsynonymous SNV PATJ:NM_001350145:exon9:c.A1085C:p.E362A,PATJ:NM_176877:exon9:c.A1085C:p.E362A 0.046 0.0061 0.063 0.025 0.12 0.03 0.0798 0.0217 0.0551 0.0271 0.0646 0.1127 0.1002 0.0332 0.083 0.022 0.12 0.043 0.074 rs1286823 . . . . . . . . . . . . . 0.004 0.654 D 0.972 0.554 D 0.926 0.644 D 0.000 0.559 D 0.002 0.444 P 2.43 0.707 M 2.18 0.189 T -4.4 0.773 D 0.167 0.202 -1.090 0.055 T 0.001 0.004 T . . . 4.299 0.576 24.0 0.996 0.721 0.951 0.632 D c 0.334 0.340 0.024 0.135 0.706 0.609 0 5.17 0.707 6.382 0.729 1.199 0.960 1.000 0.715 0.993 0.574 10.415 0.433 PDZ domain . . 0.0809 0.0202 0.0610 0.1157 0.0255 0.0619 0.1168 0.0942 0.0336 0.0769 0.0223 0.0837 0.0993 0.0296 0.0655 0.1149 0.0876 het 952.48 94 1 62257036 . A C 952.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.020;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4826;MQ=59.14;MQ0=0;MQRankSum=1.235;QD=10.13;ReadPosRankSum=-1.434;VQSLOD=5.6279;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,40:94:99:982,0,1310 1 62330080 62330080 T G exonic PATJ nonsynonymous SNV PATJ:NM_001350145:exon20:c.T2610G:p.I870M,PATJ:NM_176877:exon20:c.T2610G:p.I870M 0.99 0.97 1. 1. 1. 1. 0.9968 0.9643 0.9992 1 1 0.9999 1 1 0.99 0.96 1. 1. 1. rs2799627 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.391 N 1.000 0.090 P -2.595 0.000 N 2.95 0.097 T 1.89 0.005 N 0.212 0.260 -0.973 0.366 T 0.000 0.000 T . . . 0.349 0.128 6.155 0.101 0.001 0.036 0.087 N c -0.836 -0.531 0.270 0.189 0.706 0.609 0 4.57 0.557 5.238 0.650 0.073 0.181 1.000 0.715 0.996 0.625 10.670 0.448 . . . 0.9975 0.9631 0.9988 1 1 1 0.9999 0.9987 1 0.9897 0.9642 0.9976 1 1 1 1 0.9949 hom 2514.68 78 1 62330080 . T G 2514.68 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=32.24;VQSLOD=9.3702;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2548,196,0 1 62330134 62330134 G A exonic PATJ synonymous SNV PATJ:NM_001350145:exon20:c.G2664A:p.L888L,PATJ:NM_176877:exon20:c.G2664A:p.L888L 0.003 0.0008 . . 0.012 0.002 0.0082 0.0019 0.0060 0 0.0204 0.0109 0.0132 0.0016 0.0078 0.0023 0.011 . 0.016 rs4915787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0079 0.0018 0.0036 0.0015 0 0.0194 0.0110 0.0115 0.0013 0.0098 0.0021 0.0012 0 0 0.0235 0.0131 0.0071 het 1741.01 131 1 62330134 . G A 1741.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.815;DP=131;Dels=0.00;FS=7.335;HRun=0;HaplotypeScore=0.6651;MQ=59.01;MQ0=0;MQRankSum=1.214;QD=13.29;ReadPosRankSum=0.882;VQSLOD=5.0135;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,68:131:99:1771,0,1809 1 62380270 62380270 C T exonic PATJ synonymous SNV PATJ:NM_001350145:exon26:c.C3504T:p.N1168N,PATJ:NM_176877:exon26:c.C3504T:p.N1168N 0.78 0.89 0.84 0.74 0.72 0.67 0.7480 0.8884 0.8189 0.7420 0.7528 0.7320 0.7114 0.6778 0.79 0.88 0.75 0.87 0.34 rs1134766 COSM3751339 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7468 0.8865 0.8226 0.5531 0.7372 0.7597 0.7429 0.7259 0.6682 0.7873 0.8765 0.8206 0.5967 0.7608 0.7586 0.7485 0.7633 het 2053.65 210 1 62380270 . C T 2053.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.696;DP=210;Dels=0.00;FS=2.415;HRun=0;HaplotypeScore=5.9293;MQ=58.56;MQ0=0;MQRankSum=0.198;QD=9.78;ReadPosRankSum=0.682;VQSLOD=4.1471;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:116,94:210:99:2084,0,2821 1 62579823 62579823 G A exonic PATJ synonymous SNV PATJ:NM_001350145:exon35:c.G4560A:p.E1520E,PATJ:NM_176877:exon35:c.G4560A:p.E1520E 0.61 0.42 0.72 0.75 0.66 0.59 0.6621 0.4582 0.7664 0.7816 0.5669 0.6837 0.6578 0.6058 0.62 0.47 0.7 0.54 0.75 rs1475563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6695 0.4551 0.7626 0.7368 0.7881 0.5681 0.6854 0.6804 0.6003 0.6093 0.4483 0.7620 0.7285 0.7805 0.5656 0.6835 0.6112 het 1004.92 56 1 62579823 . G A 1004.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.927;DP=56;Dels=0.00;FS=4.581;HRun=1;HaplotypeScore=2.3391;MQ=58.42;MQ0=0;MQRankSum=1.897;QD=17.94;ReadPosRankSum=1.273;VQSLOD=4.0952;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,35:56:99:1035,0,590 1 62579907 62579907 C T exonic PATJ synonymous SNV PATJ:NM_001350145:exon35:c.C4644T:p.I1548I,PATJ:NM_176877:exon35:c.C4644T:p.I1548I 0.3 0.28 0.23 0.71 0.07 0.18 0.1742 0.2631 0.2818 0.7347 0.0605 0.0824 0.1228 0.1677 0.15 0.26 0.089 0.34 0.11 rs7418709 COSM5427913;COSM5427914 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1762 0.2671 0.2733 0.1185 0.7414 0.0616 0.0812 0.1448 0.1617 0.1701 0.2536 0.2590 0.1225 0.7444 0.0547 0.0871 0.0980 het 284.48 34 1 62579907 . C T 284.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.721;DP=34;Dels=0.00;FS=3.580;HRun=1;HaplotypeScore=0.0000;MQ=57.86;MQ0=0;MQRankSum=-0.631;QD=8.37;ReadPosRankSum=-1.351;VQSLOD=4.0531;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,12:34:99:314,0,548 1 62675619 62675619 C T exonic L1TD1 synonymous SNV L1TD1:NM_019079:exon4:c.C1173T:p.A391A,L1TD1:NM_001164835:exon5:c.C1173T:p.A391A 0.3 0.28 0.35 0.11 0.49 0.29 0.4167 0.3294 0.2922 0.1077 0.4415 0.5137 0.4381 0.3173 0.45 0.34 0.51 0.33 0.47 rs4625314 COSM146532 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4153 0.3283 0.3130 0.5319 0.1090 0.4430 0.5145 0.4493 0.3190 0.4212 0.3397 0.3604 0.5762 0.1141 0.4421 0.4956 0.4398 het 1316.48 127 1 62675619 . C T 1316.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.836;DP=127;DS;Dels=0.00;FS=15.087;HRun=1;HaplotypeScore=3.3019;MQ=58.00;MQ0=1;MQRankSum=-1.302;QD=10.37;ReadPosRankSum=0.938;VQSLOD=2.2914;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,50:127:99:1346,0,2220 1 62675892 62675892 A G exonic L1TD1 synonymous SNV L1TD1:NM_019079:exon4:c.A1446G:p.E482E,L1TD1:NM_001164835:exon5:c.A1446G:p.E482E 0.51 0.52 0.63 0.25 0.65 0.53 0.6062 0.5351 0.6270 0.2400 0.6563 0.6712 0.6344 0.5422 0.62 0.54 0.66 0.6 0.62 rs2481694 COSM3751345 1(NS);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6058 0.5335 0.6321 0.6168 0.2391 0.6586 0.6705 0.6231 0.5396 0.6026 0.5421 0.6268 0.6523 0.2463 0.6574 0.6592 0.6255 het 1189.40 102 1 62675892 . A G 1189.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.694;DP=102;Dels=0.00;FS=0.911;HRun=1;HaplotypeScore=1.9164;MQ=59.59;MQ0=0;MQRankSum=0.303;QD=11.66;ReadPosRankSum=-0.492;VQSLOD=6.5113;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,45:102:99:1219,0,1556 1 62713224 62713224 C G exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon8:c.G919C:p.V307L,KANK4:NM_181712:exon9:c.G2803C:p.V935L 0.99 1. 0.99 1. 0.97 0.97 0.9744 0.9931 0.9882 0.9998 0.9856 0.9649 0.9812 0.9732 0.97 0.99 0.96 1. 0.99 rs2941679 . . . . . . . . . . . . . 0.185 0.215 T 0.0 0.026 B 0.001 0.040 B 0.163 0.176 N 1.000 0.207 P -0.55 0.024 N 0.08 0.616 T 0.23 0.050 N 0.073 0.109 -0.996 0.312 T 0.000 0.000 T . . . 1.806 0.278 15.02 0.981 0.381 0.424 0.266 N c -0.763 -0.542 0.070 0.155 0.581 0.326 0 2.62 0.302 0.787 0.263 0.133 0.217 0.953 0.330 0.998 0.697 9.007 0.351 Ankyrin repeat-containing domain . . 0.9743 0.9936 0.9870 0.9598 0.9993 0.9850 0.9637 0.9742 0.9722 0.9755 0.9938 0.9821 0.9702 0.9994 0.9842 0.9607 0.9623 hom 6082.27 178 1 62713224 . C G 6082.27 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3102;MQ=59.59;MQ0=0;QD=34.17;VQSLOD=8.6670;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:6082,478,0 1 62728784 62728784 A G exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon6:c.T635C:p.V212A,KANK4:NM_181712:exon7:c.T2519C:p.V840A 0.72 0.55 0.79 0.84 0.74 0.74 0.7444 0.5590 0.8652 0.8406 0.8490 0.7393 0.7336 0.7058 0.67 0.56 0.73 0.74 0.7 rs2666472 COSM4144131 1(thyroid) . . . . . . . . . . . 0.369 0.187 T 0.068 0.222 B 0.036 0.253 B 0.475 0.122 N 0.663 0.810 P 1.565 0.397 L -0.44 0.698 T -2.29 0.556 N 0.19 0.232 -0.962 0.389 T 0.000 0.000 T . . . 0.670 0.158 8.629 0.914 0.200 0.777 0.379 D c -0.947 -0.882 0.000 0.052 0.554 0.283 0 -0.649 0.108 2.839 0.477 -1.159 0.017 1.000 0.715 0.483 0.268 12.662 0.560 Ankyrin repeat-containing domain ENSG00000240563.1|ENSG00000240563.1 Cells_Transformed_fibroblasts|Thyroid 0.7543 0.5489 0.8598 0.7077 0.8450 0.8471 0.7364 0.7544 0.7024 0.7130 0.5516 0.8325 0.7067 0.8273 0.8522 0.7509 0.7837 hom 1005.15 34 1 62728784 . A G 1005.15 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=29.56;VQSLOD=8.9476;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:90.24:1038,90,0 1 62728838 62728838 T C exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon6:c.A581G:p.H194R,KANK4:NM_181712:exon7:c.A2465G:p.H822R 0.72 0.55 0.79 0.84 0.74 0.74 0.7426 0.5557 0.8631 0.8400 0.8483 0.7377 0.7322 0.7031 0.67 0.56 0.73 0.74 0.71 rs2258470 . . . . . . . . . . . . . 0.464 0.179 T 0.0 0.026 B 0.0 0.013 B 0.278 0.150 N 1.000 0.588 P -0.355 0.031 N -0.08 0.639 T 0.67 0.023 N 0.004 0.000 -0.992 0.322 T 0.000 0.000 T . . . 0.245 0.117 5.144 0.928 0.218 0.137 0.178 N c -0.807 -0.656 0.001 0.080 0.487 0.133 0 3.02 0.338 2.747 0.469 0.066 0.173 1.000 0.715 0.747 0.321 10.110 0.415 Ankyrin repeat-containing domain ENSG00000240563.1|ENSG00000240563.1 Cells_Transformed_fibroblasts|Thyroid 0.7543 0.5497 0.8599 0.7071 0.8448 0.8478 0.7364 0.7543 0.7025 0.7124 0.5506 0.8325 0.7 0.8265 0.8522 0.7504 0.7832 hom 1566.18 49 1 62728838 . T C 1566.18 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=31.96;VQSLOD=9.3997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1599,132,0 1 62728861 62728861 T C exonic KANK4 synonymous SNV KANK4:NM_001320269:exon6:c.A558G:p.K186K,KANK4:NM_181712:exon7:c.A2442G:p.K814K 0.72 0.55 0.79 0.84 0.74 0.74 0.7426 0.5554 0.8632 0.8404 0.8482 0.7380 0.7334 0.7021 0.67 0.56 0.73 0.75 0.7 rs2260581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7546 0.5505 0.8600 0.7074 0.8450 0.8478 0.7369 0.7544 0.7025 0.7132 0.5516 0.8321 0.7114 0.8275 0.8522 0.7511 0.7832 hom 1710.33 51 1 62728861 . T C 1710.33 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=58.26;MQ0=0;QD=33.54;VQSLOD=8.6661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1743,138,0 1 62728918 62728918 G A exonic KANK4 synonymous SNV KANK4:NM_001320269:exon6:c.C501T:p.P167P,KANK4:NM_181712:exon7:c.C2385T:p.P795P 0.72 0.55 0.79 0.84 0.74 0.74 0.7437 0.5579 0.8642 0.8428 0.8492 0.7389 0.7378 0.7018 0.67 0.56 0.73 0.75 0.7 rs2262110 COSM5427411 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7547 0.5505 0.8598 0.7073 0.8457 0.8479 0.7372 0.7532 0.7024 0.7135 0.5519 0.8325 0.7067 0.8282 0.8522 0.7515 0.7827 hom 1727.38 52 1 62728918 . G A 1727.38 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;QD=33.22;VQSLOD=9.4939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1760,141,0 1 62732421 62732421 T C exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon5:c.A418G:p.T140A,KANK4:NM_181712:exon6:c.A2302G:p.T768A 0.31 0.21 0.4 0.59 0.27 0.12 0.2850 0.2204 0.5009 0.5904 0.3556 0.2458 0.2892 0.1437 0.24 0.22 0.24 0.27 0.17 rs11207949 . . . . . . . . . . . . . 0.542 0.067 T 0.001 0.126 B 0.01 0.145 B 0.032 0.251 N 1 0.090 P 1.77 0.460 L 0.9 0.456 T -0.98 0.279 N 0.087 0.092 -0.935 0.433 T 0.000 0.000 T . . . 0.766 0.167 9.253 0.744 0.103 0.758 0.368 D c -0.485 -0.439 0.005 0.109 0.554 0.283 0 3.57 0.399 2.369 0.436 0.913 0.425 0.949 0.328 0.413 0.256 12.177 0.533 . . . 0.2960 0.2163 0.4804 0.2111 0.5865 0.3606 0.2444 0.2741 0.1435 0.2772 0.2013 0.4281 0.2086 0.5407 0.3520 0.2667 0.3035 het 1125.03 112 1 62732421 . T C 1125.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.034;DP=112;Dels=0.00;FS=3.527;HRun=0;HaplotypeScore=1.4725;MQ=59.29;MQ0=0;MQRankSum=-0.026;QD=10.04;ReadPosRankSum=-0.337;VQSLOD=6.4721;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,50:112:99:1155,0,1551 1 62738904 62738904 T C exonic KANK4 synonymous SNV KANK4:NM_181712:exon3:c.A1872G:p.P624P 0.8 0.88 0.79 0.84 0.7 0.76 0.7470 0.8585 0.8482 0.8452 0.8083 0.6919 0.7277 0.7515 0.73 0.85 0.67 0.8 0.34 rs7516290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7515 0.8575 0.8322 0.6363 0.8472 0.8121 0.6895 0.7303 0.7521 0.7708 0.8603 0.8079 0.6309 0.8346 0.8095 0.7039 0.7660 het 640.29 46 1 62738904 . T C 640.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.434;DP=46;Dels=0.00;FS=3.097;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.062;QD=13.92;ReadPosRankSum=1.686;VQSLOD=5.1647;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,26:46:99:670,0,516 1 62740446 62740446 T C exonic KANK4 synonymous SNV KANK4:NM_181712:exon3:c.A330G:p.P110P 0.8 0.88 0.79 0.85 0.7 0.76 0.7448 0.8589 0.8464 0.8634 0.8071 0.6890 0.7280 0.7427 0.74 0.85 0.67 0.81 0.51 rs2666506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7477 0.8594 0.8400 0.6339 0.8650 0.8117 0.6864 0.7253 0.7417 0.7700 0.8595 0.8082 0.6233 0.8526 0.8091 0.7007 0.7614 het 1539.81 126 1 62740446 . T C 1539.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.545;DP=126;Dels=0.00;FS=9.792;HRun=0;HaplotypeScore=2.5130;MQ=59.29;MQ0=0;MQRankSum=-1.217;QD=12.22;ReadPosRankSum=0.106;VQSLOD=3.6590;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,62:126:99:1570,0,1652 1 62740449 62740449 T C exonic KANK4 synonymous SNV KANK4:NM_181712:exon3:c.A327G:p.S109S 0.78 0.8 0.78 0.85 0.7 0.76 0.7374 0.7772 0.8431 0.8635 0.8068 0.6888 0.7236 0.7424 0.71 0.77 0.67 0.79 0.47 rs2666507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7418 0.7771 0.8364 0.6339 0.8650 0.8113 0.6862 0.7221 0.7415 0.7454 0.7753 0.8065 0.6233 0.8515 0.8075 0.7002 0.7541 het 1507.80 130 1 62740449 . T C 1507.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.187;DP=130;Dels=0.00;FS=13.165;HRun=0;HaplotypeScore=2.4328;MQ=59.31;MQ0=0;MQRankSum=-0.217;QD=11.60;ReadPosRankSum=0.021;VQSLOD=3.6480;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,64:130:99:1538,0,1716 1 62959955 62959955 T A exonic DOCK7 synonymous SNV DOCK7:NM_001272000:exon39:c.A5088T:p.V1696V,DOCK7:NM_001272001:exon39:c.A5088T:p.V1696V,DOCK7:NM_033407:exon39:c.A5115T:p.V1705V,DOCK7:NM_001271999:exon40:c.A5181T:p.V1727V,DOCK7:NM_001330614:exon40:c.A5181T:p.V1727V . . . . . . 0.0003 0 0 0 0.0002 0.0005 0 0 0.0004 . 0.0006 . . rs144604663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0 0 0 0 4.503e-05 0.0004 0.0006 0 0.0003 0.0001 0 0 0 0 0.0005 0 het 605.40 49 1 62959955 . T A 605.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.090;DP=49;Dels=0.00;FS=4.395;HRun=1;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=-0.250;QD=12.36;ReadPosRankSum=0.590;VQSLOD=3.9245;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,24:49:99:635,0,663 1 62960101 62960101 A G exonic DOCK7 synonymous SNV DOCK7:NM_001272000:exon39:c.T4942C:p.L1648L,DOCK7:NM_001272001:exon39:c.T4942C:p.L1648L,DOCK7:NM_033407:exon39:c.T4969C:p.L1657L,DOCK7:NM_001271999:exon40:c.T5035C:p.L1679L,DOCK7:NM_001330614:exon40:c.T5035C:p.L1679L 0.35 0.42 0.36 0.18 0.32 0.45 0.3469 0.4038 0.4003 0.1939 0.2780 0.3278 0.3124 0.4604 0.35 0.39 0.33 0.3 0.26 rs10889335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3442 0.4006 0.3930 0.2334 0.1952 0.2831 0.3366 0.3142 0.4592 0.3426 0.3993 0.3842 0.2781 0.2001 0.2807 0.3393 0.3279 hom 3843.46 124 1 62960101 . A G 3843.46 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1893;MQ=59.02;MQ0=0;QD=31.00;VQSLOD=9.0579;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3843,292,0 1 63881552 63881552 C T exonic ALG6 nonsynonymous SNV ALG6:NM_013339:exon11:c.C911T:p.S304F 0.83 0.9 0.76 0.86 0.69 0.9 0.7514 0.8629 0.8338 0.8596 0.6712 0.6875 0.7472 0.8565 0.74 0.86 0.68 0.87 0.56 rs4630153 COSM5653791;COSM5653790 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Congenital_disorder_of_glycosylation RCV000081560.9|RCV000323730.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . 0.213 0.194 T 0.0 0.026 B 0.001 0.040 B 0.100 0.199 N 1 0.090 P . . . -1.61 0.823 D -1.52 0.370 N 0.079 0.071 -1.019 0.241 T 0.185 0.534 T . . . 1.629 0.257 14.01 0.390 0.026 0.005 0.024 N c -0.537 -0.415 0.002 0.090 0.706 0.609 0 3.91 0.442 0.653 0.244 -0.251 0.090 0.873 0.306 0.956 0.434 6.859 0.231 . ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000088035.11|ENSG00000142856.12|ENSG00000088035.11|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina 0.7527 0.8701 0.8238 0.7772 0.8597 0.6749 0.6833 0.7483 0.8566 0.7439 0.8674 0.7780 0.7715 0.8776 0.6722 0.6733 0.7194 het 526.10 51 1 63881552 . C T 526.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8634;MQ=60.00;MQ0=0;MQRankSum=1.598;QD=10.32;ReadPosRankSum=1.196;VQSLOD=4.7885;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,21:51:99:556,0,786 1 63997633 63997633 A T exonic EFCAB7 synonymous SNV EFCAB7:NM_032437:exon3:c.A330T:p.S110S 0.2 0.27 0.17 0.19 0.14 0.17 0.1726 0.2343 0.1877 0.1847 0.1329 0.1611 0.1908 0.1788 0.18 0.23 0.15 0.17 0.11 rs9804078 COSM3747044 3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1718 0.2340 0.1824 0.2608 0.1852 0.1360 0.1554 0.1980 0.1745 0.1703 0.2279 0.1926 0.2450 0.1927 0.1284 0.1416 0.1663 het 380.21 38 1 63997633 . A T 380.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.143;DP=38;Dels=0.00;FS=1.271;HRun=3;HaplotypeScore=2.9874;MQ=58.73;MQ0=0;MQRankSum=-0.088;QD=10.01;ReadPosRankSum=-0.881;VQSLOD=5.3628;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,17:38:99:410,0,541 1 63999826 63999826 C T exonic EFCAB7 nonsynonymous SNV EFCAB7:NM_032437:exon6:c.C743T:p.T248I 0.14 0.086 0.16 0.19 0.14 0.17 0.1585 0.0877 0.1821 0.1839 0.1325 0.1598 0.1828 0.1770 0.13 0.089 0.15 0.11 0.13 rs6693255 COSM3747045 4(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.006 0.614 D 0.294 0.306 B 0.07 0.264 B 0.052 0.229 N 0.948 0.265 P 2.47 0.719 M 0.32 0.585 T -1.91 0.444 N 0.065 0.098 -1.083 0.067 T 0.061 0.256 T . . . 1.471 0.239 13.16 0.902 0.189 0.242 0.221 N c -0.534 -0.505 0.049 0.148 0.563 0.310 0 1.49 0.219 0.461 0.215 0.017 0.142 0.056 0.214 0.423 0.258 4.209 0.099 . ENSG00000079739.11|ENSG00000203965.8|ENSG00000079739.11 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Esophagus_Muscularis 0.1611 0.0842 0.1752 0.2600 0.1849 0.1359 0.1550 0.1915 0.1742 0.1285 0.0823 0.1854 0.2417 0.1921 0.1286 0.1408 0.1633 het 1235.83 99 1 63999826 . C T 1235.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.665;DP=99;Dels=0.00;FS=2.771;HRun=0;HaplotypeScore=0.9469;MQ=59.53;MQ0=0;MQRankSum=0.850;QD=12.48;ReadPosRankSum=-0.081;VQSLOD=6.8230;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,48:99:99:1266,0,1265 1 63999868 63999868 T C exonic EFCAB7 nonsynonymous SNV EFCAB7:NM_032437:exon6:c.T785C:p.M262T 0.29 0.58 0.2 0.19 0.15 0.19 0.2014 0.5001 0.2026 0.1923 0.1432 0.1624 0.2109 0.1981 0.27 0.48 0.16 0.33 0.16 rs6657480 COSM3747046 4(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.845 0.028 T 0.0 0.026 B 0.0 0.013 B 0.230 0.159 N 1 0.090 P -2.34 0.001 N 0.51 0.555 T 0.55 0.027 N 0.018 0.003 -0.980 0.351 T 0.012 0.046 T . . . -2.000 0.008 0.001 0.588 0.059 0.024 0.067 N c -1.326 -1.138 0.230 0.185 0.615 0.372 0 2.32 0.278 -0.316 0.080 -0.441 0.057 0.001 0.137 0.471 0.266 4.47 0.110 . ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12 Brain_Cerebellar_Hemisphere|Lung|Thyroid 0.1954 0.5013 0.1980 0.2599 0.1926 0.1459 0.1564 0.2132 0.1949 0.2461 0.4872 0.2172 0.2450 0.1976 0.1366 0.1424 0.1852 het 633.98 60 1 63999868 . T C 633.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6640;MQ=60.00;MQ0=0;MQRankSum=-1.341;QD=10.57;ReadPosRankSum=-0.141;VQSLOD=5.2518;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,28:60:99:664,0,789 1 64021096 64021096 G A exonic EFCAB7 nonsynonymous SNV EFCAB7:NM_032437:exon9:c.G1124A:p.R375K 0.14 0.067 0.16 0.19 0.14 0.17 0.1575 0.0769 0.1813 0.1839 0.1323 0.1598 0.1828 0.1774 0.13 0.079 0.15 0.11 0.14 rs2273367 COSM3747048 5(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.25 0.171 T 0.001 0.067 B 0.002 0.063 B 0.000 0.537 N 0.439 0.322 P 1.42 0.358 L 0.91 0.449 T -0.94 0.251 N 0.04 0.020 -1.089 0.058 T 0.050 0.211 T . . . 2.197 0.325 17.49 0.973 0.327 0.916 0.537 D c -0.076 0.078 0.792 0.240 0.638 0.428 0 4.04 0.461 4.788 0.619 1.045 0.669 1.000 0.715 1.000 0.888 10.965 0.464 . ENSG00000079739.11|ENSG00000203965.8|ENSG00000079739.11 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Esophagus_Muscularis 0.1606 0.0736 0.1749 0.2603 0.1851 0.1358 0.1552 0.1913 0.1748 0.1259 0.0723 0.1847 0.2417 0.1926 0.1282 0.1414 0.1598 het 1010.54 109 1 64021096 . G A 1010.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.116;DP=109;Dels=0.00;FS=1.658;HRun=1;HaplotypeScore=4.4468;MQ=58.58;MQ0=0;MQRankSum=-0.343;QD=9.27;ReadPosRankSum=0.682;VQSLOD=5.3230;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,40:109:99:1041,0,1812 1 64095111 64095111 A G exonic PGM1 nonsynonymous SNV PGM1:NM_001172818:exon2:c.A316G:p.I106V,PGM1:NM_002633:exon2:c.A262G:p.I88V 0.13 0.25 0.11 0.011 0.14 0.085 0.1304 0.2477 0.0584 0.0068 0.1355 0.1488 0.1222 0.0959 0.17 0.24 0.14 0.14 0.14 rs855314 COSM3735977;COSM3735978 1(skin) Likely benign|Likely benign|Benign Congenital_disorder_of_glycosylation_type_1t|Congenital_disorder_of_glycosylation|not_specified RCV000350881.1|RCV000389349.1|RCV000425439.1 MedGen:OMIM:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen C2752015:614921:ORPHA319646|C0282577:ORPHA137:238049009|CN169374 . . . . . . 1.0 0.010 T 0.022 0.245 B 0.037 0.252 B 0.000 0.629 D 0.182 0.810 P -0.745 0.017 N 0.02 0.623 T -0.03 0.075 N 0.156 0.306 -1.049 0.147 T 0.042 0.180 T . . . 3.281 0.453 22.8 0.968 0.305 0.988 0.873 D c -0.233 0.044 1.000 0.747 0.732 0.924 0 5.48 0.806 9.197 0.941 1.199 0.960 1.000 0.715 0.999 0.750 15.892 0.790 Alpha-D-phosphohexomutase\x2c alpha/beta/alpha I/II/III|Alpha-D-phosphohexomutase\x2c alpha/beta/alpha domain I . . 0.1255 0.2474 0.0689 0.1324 0.0066 0.1331 0.1508 0.1300 0.0952 0.1626 0.2458 0.0837 0.1216 0.0062 0.1246 0.1478 0.1224 het 2288.46 186 1 64095111 . A G 2288.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.498;DP=186;Dels=0.00;FS=2.558;HRun=0;HaplotypeScore=5.2136;MQ=58.75;MQ0=0;MQRankSum=0.805;QD=12.30;ReadPosRankSum=0.525;VQSLOD=5.4433;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,90:186:99:2318,0,2344 1 64515379 64515379 C T exonic ROR1 synonymous SNV ROR1:NM_001083592:exon3:c.C180T:p.L60L,ROR1:NM_005012:exon3:c.C180T:p.L60L 0.78 0.55 0.86 0.94 0.83 0.8 0.8384 0.6292 0.8880 0.9585 0.8696 0.8524 0.8392 0.8034 0.78 0.63 0.86 0.78 0.83 rs1772626 COSM3747050 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8459 0.6220 0.8871 0.8767 0.9583 0.8767 0.8503 0.8321 0.8038 0.8042 0.6411 0.8902 0.8642 0.9653 0.8797 0.8554 0.8411 hom 5815.04 185 1 64515379 . C T 5815.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.927;DP=185;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6778;MQ=59.08;MQ0=0;MQRankSum=-0.627;QD=31.43;ReadPosRankSum=-0.927;VQSLOD=7.6158;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,184:185:99:5776,416,0 1 64608329 64608329 G T exonic ROR1 synonymous SNV ROR1:NM_001083592:exon7:c.G1170T:p.A390A,ROR1:NM_005012:exon7:c.G1170T:p.A390A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs2762833 COSM4594947 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1733.18 54 1 64608329 . G T 1733.18 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.10;VQSLOD=12.7927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1766,138,0 1 64624842 64624842 A G exonic ROR1 synonymous SNV ROR1:NM_005012:exon8:c.A1353G:p.V451V 0.35 0.22 0.36 0.41 0.4 0.39 0.3592 0.2330 0.3831 0.4068 0.3593 0.3613 0.3458 0.3892 0.32 0.23 0.37 0.34 0.3 rs6668545 COSM3747051 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3615 0.2291 0.3838 0.3634 0.4009 0.3592 0.3595 0.3643 0.3887 0.3299 0.2312 0.3589 0.3742 0.4067 0.3589 0.3676 0.3617 hom 6376.52 200 1 64624842 . A G 6376.52 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=31.88;VQSLOD=9.5360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6376,485,0 1 64643277 64643277 C T exonic ROR1 nonsynonymous SNV ROR1:NM_005012:exon9:c.C1553T:p.T518M 0.24 0.042 0.3 0.31 0.35 0.29 0.3043 0.0770 0.3485 0.3000 0.3796 0.3329 0.2841 0.2743 0.25 0.079 0.33 0.24 0.25 rs7527017 COSM3747052 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.043 0.413 D 0.788 0.426 P 0.532 0.468 P 0.019 0.273 N 0.735 0.588 P 0.78 0.195 N -1.68 0.829 D -1.05 0.275 N 0.134 0.155 -0.285 0.754 T 0.323 0.692 T . . . 4.341 0.581 24.0 0.998 0.846 0.970 0.720 D c 0.193 0.285 0.859 0.252 0.707 0.730 0 5.04 0.672 1.815 0.384 0.935 0.490 0.941 0.324 0.997 0.653 17.008 0.862 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain;Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000177414.9|ENSG00000177414.9|ENSG00000177414.9|ENSG00000177414.9|ENSG00000177414.9 Heart_Left_Ventricle|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3103 0.0739 0.3471 0.2343 0.2954 0.3857 0.3353 0.3115 0.2747 0.2785 0.0751 0.3258 0.2351 0.3099 0.3961 0.3605 0.3360 hom 7826.76 242 1 64643277 . C T 7826.76 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8307;MQ=59.67;MQ0=0;QD=32.34;VQSLOD=9.3908;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:7826,623,0 1 65099841 65099841 A G exonic CACHD1 nonsynonymous SNV CACHD1:NM_001293274:exon6:c.A16G:p.S6G,CACHD1:NM_020925:exon7:c.A751G:p.S251G . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 0.096 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.530 D 0.695 0.181 N 1.94 0.227 T -1.31 0.328 N 0.203 0.249 -1.030 0.203 T 0.012 0.047 T 0.008 0.214 T 0.343 0.127 6.106 0.960 0.279 0.856 0.445 D c -0.660 -0.533 0.454 0.206 0.706 0.609 0 3.58 0.400 3.081 0.496 0.225 0.256 0.994 0.380 0.921 0.396 5.642 0.167 von Willebrand factor\x2c type A . . . . . . . . . . . . . . . . . . . het 1321.18 101 1 65099841 . A G 1321.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.924;DP=101;Dels=0.00;FS=1.597;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-1.433;QD=13.08;ReadPosRankSum=-0.603;VQSLOD=3.6255;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,47:101:99:1351,0,1492 1 65113568 65113568 T C exonic CACHD1 nonsynonymous SNV CACHD1:NM_001293274:exon8:c.T353C:p.M118T,CACHD1:NM_020925:exon9:c.T1088C:p.M363T 1. 0.99 1. 1. 1. 1. 0.9990 0.9900 0.9997 1 1 0.9998 1 0.9999 1. 0.99 1. 1. 1. rs6588100 . . . . . . . . . . . . . 0.998 0.019 T 0.0 0.026 B 0.0 0.013 B 0.003 0.355 N 1 0.090 P -0.345 0.033 N 2.06 0.205 T 0.61 0.025 N 0.033 0.028 -0.925 0.448 T 0.008 0.029 T . . . -0.554 0.052 0.162 0.338 0.020 0.021 0.062 N c -1.096 -1.019 0.000 0.065 0.672 0.522 0 2.3 0.276 0.804 0.266 0.016 0.142 0.002 0.151 0.655 0.299 8.775 0.337 von Willebrand factor\x2c type A . . 0.9992 0.9894 0.9999 0.9976 1 1 0.9999 0.9993 0.9999 0.9971 0.9899 1 1 1 1 1 0.9980 hom 2867.71 94 1 65113568 . T C 2867.71 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9772;MQ=59.75;MQ0=0;QD=30.51;VQSLOD=9.3073;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2901,244,0 1 65147002 65147002 C T exonic CACHD1 synonymous SNV CACHD1:NM_001293274:exon24:c.C2580T:p.H860H,CACHD1:NM_020925:exon25:c.C3315T:p.H1105H 0.13 0.18 0.088 0.19 0.046 0.099 0.0696 0.1654 0.0639 0.2058 0.0172 0.0414 0.0760 0.0763 0.086 0.16 0.046 0.17 0.0082 rs3828064 COSM3997629 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0683 0.1680 0.0690 0.0548 0.2117 0.0193 0.0417 0.0676 0.0744 0.0815 0.1659 0.0719 0.0695 0.2163 0.0184 0.0356 0.0459 het 2370.15 232 1 65147002 . C T 2370.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.379;DP=232;DS;Dels=0.00;FS=1.637;HRun=0;HaplotypeScore=6.5230;MQ=59.29;MQ0=1;MQRankSum=-1.044;QD=10.22;ReadPosRankSum=-0.107;VQSLOD=4.3979;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,101:232:99:2400,0,3187 1 65310489 65310489 T C exonic JAK1 synonymous SNV JAK1:NM_001321852:exon16:c.A2199G:p.P733P,JAK1:NM_001321856:exon16:c.A2199G:p.P733P,JAK1:NM_001321857:exon16:c.A2196G:p.P732P,JAK1:NM_002227:exon16:c.A2199G:p.P733P,JAK1:NM_001320923:exon17:c.A2199G:p.P733P,JAK1:NM_001321854:exon17:c.A2199G:p.P733P,JAK1:NM_001321855:exon17:c.A2199G:p.P733P,JAK1:NM_001321853:exon18:c.A2199G:p.P733P 0.37 0.66 0.32 0.3 0.25 0.22 0.2935 0.6133 0.3652 0.3136 0.2794 0.2467 0.2946 0.2375 0.35 0.58 0.23 0.41 0.33 rs2230588 COSM3751351 9(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2943 0.6201 0.3515 0.3558 0.3170 0.2859 0.2414 0.2985 0.2351 0.3717 0.6204 0.3349 0.3675 0.3046 0.2774 0.2630 0.2969 het 965.03 98 1 65310489 . T C 965.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.070;DP=98;Dels=0.00;FS=2.723;HRun=0;HaplotypeScore=4.5134;MQ=59.08;MQ0=0;MQRankSum=0.132;QD=9.85;ReadPosRankSum=-1.854;VQSLOD=4.6750;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,37:98:99:995,0,1426 1 65311214 65311214 G C exonic JAK1 synonymous SNV JAK1:NM_001321852:exon15:c.C2097G:p.A699A,JAK1:NM_001321856:exon15:c.C2097G:p.A699A,JAK1:NM_001321857:exon15:c.C2094G:p.A698A,JAK1:NM_002227:exon15:c.C2097G:p.A699A,JAK1:NM_001320923:exon16:c.C2097G:p.A699A,JAK1:NM_001321854:exon16:c.C2097G:p.A699A,JAK1:NM_001321855:exon16:c.C2097G:p.A699A,JAK1:NM_001321853:exon17:c.C2097G:p.A699A 0.039 0.0015 0.13 0.0069 0.041 0.054 0.0615 0.0093 0.1710 0.0094 0.0448 0.0584 0.0489 0.0626 0.045 0.011 0.061 0.011 0.066 rs3737139 COSM5019856 3(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0668 0.0096 0.1688 0.0344 0.0114 0.0421 0.0615 0.0593 0.0641 0.0469 0.0114 0.1348 0.0298 0.0136 0.0481 0.0657 0.0571 het 2329 205 1 65311214 . G C 2329 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.277;DP=205;DS;Dels=0.00;FS=0.544;HRun=0;HaplotypeScore=7.3224;MQ=59.46;MQ0=0;MQRankSum=1.693;QD=11.36;ReadPosRankSum=-0.291;VQSLOD=3.7078;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,93:205:99:2359,0,3104 1 65321250 65321250 G A exonic JAK1 synonymous SNV JAK1:NM_001321852:exon11:c.C1590T:p.I530I,JAK1:NM_001321856:exon11:c.C1590T:p.I530I,JAK1:NM_001321857:exon11:c.C1587T:p.I529I,JAK1:NM_002227:exon11:c.C1590T:p.I530I,JAK1:NM_001320923:exon12:c.C1590T:p.I530I,JAK1:NM_001321854:exon12:c.C1590T:p.I530I,JAK1:NM_001321855:exon12:c.C1590T:p.I530I,JAK1:NM_001321853:exon13:c.C1590T:p.I530I 0.039 0.0015 0.13 0.0069 0.041 0.054 0.0616 0.0092 0.1714 0.0094 0.0459 0.0584 0.0494 0.0632 0.044 0.012 0.06 0.011 0.057 rs2230586 COSM5019852 3(soft_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0667 0.0095 0.1687 0.0345 0.0114 0.0420 0.0612 0.0590 0.0642 0.0471 0.0113 0.1360 0.0298 0.0136 0.0481 0.0660 0.0562 het 669.36 59 1 65321250 . G A 669.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.882;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3548;MQ=59.22;MQ0=0;MQRankSum=0.775;QD=11.35;ReadPosRankSum=0.253;VQSLOD=6.4495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,25:59:99:699,0,893 1 65335095 65335095 T C exonic JAK1 synonymous SNV JAK1:NM_001321852:exon6:c.A546G:p.G182G,JAK1:NM_001321856:exon6:c.A546G:p.G182G,JAK1:NM_001321857:exon6:c.A546G:p.G182G,JAK1:NM_002227:exon6:c.A546G:p.G182G,JAK1:NM_001320923:exon7:c.A546G:p.G182G,JAK1:NM_001321854:exon7:c.A546G:p.G182G,JAK1:NM_001321855:exon7:c.A546G:p.G182G,JAK1:NM_001321853:exon8:c.A546G:p.G182G 0.035 0.0015 0.13 0.0069 0.041 0.037 0.0597 0.0092 0.1709 0.0094 0.0448 0.0583 0.0478 0.0507 0.045 0.012 0.06 0.011 0.074 rs11585932 COSM5019905 3(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0652 0.0095 0.1690 0.0344 0.0114 0.0420 0.0613 0.0584 0.0516 0.0469 0.0112 0.1343 0.0298 0.0136 0.0479 0.0660 0.0540 het 1757.04 156 1 65335095 . T C 1757.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.474;DP=156;Dels=0.00;FS=4.954;HRun=2;HaplotypeScore=3.3382;MQ=59.17;MQ0=0;MQRankSum=-0.544;QD=11.26;ReadPosRankSum=0.791;VQSLOD=5.3492;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,67:156:99:1787,0,2291 1 65858145 65858145 G A exonic DNAJC6 synonymous SNV DNAJC6:NM_001256864:exon12:c.G1500A:p.E500E,DNAJC6:NM_014787:exon12:c.G1329A:p.E443E,DNAJC6:NM_001256865:exon13:c.G1290A:p.E430E 0.35 0.28 0.43 0.19 0.53 0.39 0.4590 0.3048 0.4580 0.1813 0.4194 0.5292 0.4758 0.4331 0.46 0.32 0.53 0.34 0.51 rs4325172 COSM3751355;COSM3751356 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4575 0.2996 0.4662 0.5394 0.1770 0.4367 0.5317 0.4779 0.4040 0.4301 0.3048 0.4604 0.5530 0.1760 0.4393 0.5197 0.4959 het 1006.13 86 1 65858145 . G A 1006.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.347;DP=86;Dels=0.00;FS=1.827;HRun=1;HaplotypeScore=2.9293;MQ=59.08;MQ0=0;MQRankSum=0.052;QD=11.70;ReadPosRankSum=1.865;VQSLOD=5.3015;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,39:86:99:1036,0,1234 1 65860687 65860687 A C exonic DNAJC6 synonymous SNV DNAJC6:NM_001256864:exon13:c.A2010C:p.P670P,DNAJC6:NM_014787:exon13:c.A1839C:p.P613P,DNAJC6:NM_001256865:exon14:c.A1800C:p.P600P 0.76 0.98 0.63 0.79 0.59 0.68 0.6468 0.9275 0.6401 0.7779 0.5711 0.5854 0.6432 0.6842 0.7 0.91 0.58 0.75 0.59 rs4582839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6417 0.9344 0.6394 0.6601 0.7720 0.5838 0.5806 0.6251 0.6891 0.6869 0.9266 0.6229 0.6867 0.7386 0.5885 0.5716 0.6316 het 2129.05 190 1 65860687 . A C 2129.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.886;DP=190;Dels=0.00;FS=6.138;HRun=2;HaplotypeScore=6.6598;MQ=58.45;MQ0=0;MQRankSum=0.279;QD=11.21;ReadPosRankSum=-0.308;VQSLOD=3.8943;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,86:190:99:2159,0,2717 1 66831370 66831370 G A exonic PDE4B synonymous SNV PDE4B:NM_001037339:exon6:c.G789A:p.E263E,PDE4B:NM_001297442:exon6:c.G606A:p.E202E,PDE4B:NM_001037340:exon11:c.G1260A:p.E420E,PDE4B:NM_001297440:exon12:c.G1029A:p.E343E,PDE4B:NM_001297441:exon12:c.G1080A:p.E360E,PDE4B:NM_001037341:exon13:c.G1305A:p.E435E,PDE4B:NM_002600:exon13:c.G1305A:p.E435E 0.52 0.79 0.45 0.15 0.49 0.59 0.4868 0.7496 0.4869 0.1337 0.4829 0.4773 0.4666 0.5459 0.57 0.74 0.48 0.59 0.5 rs783036 COSM5618830;COSM5618831;COSM5618832 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4819 0.7621 0.4862 0.5003 0.1314 0.4795 0.4792 0.4777 0.5407 0.5486 0.7495 0.5048 0.4934 0.1197 0.4969 0.4963 0.5082 hom 1313.46 42 1 66831370 . G A 1313.46 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.88;MQ0=0;QD=31.27;VQSLOD=8.9479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1346,105,0 1 67109335 67109335 A G exonic SGIP1 nonsynonymous SNV SGIP1:NM_001350218:exon6:c.A320G:p.K107R,SGIP1:NM_001308203:exon7:c.A320G:p.K107R,SGIP1:NM_001350217:exon7:c.A404G:p.K135R,SGIP1:NM_032291:exon7:c.A392G:p.K131R 0.28 0.43 0.29 0.27 0.14 0.23 0.2145 0.3782 0.3420 0.2787 0.1569 0.1596 0.2037 0.2342 0.22 0.37 0.15 0.36 0.17 rs7526812 COSM3997636;COSM3997635;COSM146539 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.209 0.197 T 0.006 0.126 B 0.003 0.080 B 0.000 0.559 D 0.999 0.301 P 0.755 0.192 N 2.26 0.176 T -0.86 0.268 N 0.042 0.068 -1.031 0.202 T 0.017 0.068 T . . . 3.225 0.447 22.8 0.987 0.444 0.861 0.450 D c -0.114 0.066 0.981 0.302 0.563 0.310 0 5.3 0.746 2.817 0.475 1.199 0.960 1.000 0.715 1.000 0.888 11.489 0.494 . ENSG00000152760.5|ENSG00000152760.5|ENSG00000152760.5|ENSG00000152760.5|ENSG00000118473.17 Adrenal_Gland|Cells_Transformed_fibroblasts|Lung|Whole_Blood|Whole_Blood 0.2109 0.3816 0.3261 0.1699 0.2703 0.1456 0.1582 0.1960 0.2234 0.2291 0.3773 0.3270 0.1656 0.295 0.1517 0.1537 0.1660 het 2372.60 180 1 67109335 . A G 2372.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.219;DP=180;Dels=0.00;FS=7.139;HRun=1;HaplotypeScore=5.8463;MQ=59.60;MQ0=0;MQRankSum=-1.321;QD=13.18;ReadPosRankSum=0.640;VQSLOD=4.1909;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,88:180:99:2403,0,2582 1 67266756 67266756 T A exonic INSL5 nonsynonymous SNV INSL5:NM_005478:exon1:c.A149T:p.Q50L 0.87 0.78 0.89 0.99 0.83 0.9 0.8764 0.8042 0.8691 0.9951 0.9146 0.8666 0.8612 0.8897 0.84 0.81 0.86 0.84 0.85 rs549148 COSM5904686 1(skin) . . . . . . . . . . . 0.973 0.020 T 0.0 0.026 B 0.0 0.013 B 0.091 0.025 N 1 0.090 P -2.455 0.001 N -2.49 0.892 D 2.09 0.004 N 0.035 0.015 -0.901 0.479 T 0.076 0.305 T . . . -1.428 0.019 0.003 0.211 0.008 0.000 0.002 N c -2.289 -2.249 0.002 0.089 0.487 0.133 0 -5.74 0.022 -0.204 0.093 -1.529 0.010 0.000 0.063 0.001 0.043 6.518 0.213 Insulin-like . . 0.8774 0.7995 0.8706 0.8889 0.9959 0.9079 0.8621 0.8757 0.8873 0.8671 0.8079 0.8675 0.8576 0.9957 0.9147 0.8746 0.9002 hom 3956.73 133 1 67266756 . T A 3956.73 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0918;MQ=58.02;MQ0=0;QD=29.75;VQSLOD=5.8005;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3956,295,0 1 67288045 67288045 C T exonic WDR78 nonsynonymous SNV WDR78:NM_024763:exon16:c.G2495A:p.R832Q 0.51 0.55 0.54 0.64 0.48 0.35 0.5009 0.5654 0.5993 0.6522 0.3515 0.4902 0.4944 0.4115 0.52 0.56 0.49 0.5 0.5 rs482082 COSM3997640 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.429 0.096 T 0.002 0.119 B 0.002 0.080 B 0.089 0.204 N 0.920 0.278 P 2.25 0.640 M 0.96 0.429 T -0.1 0.108 N 0.034 0.067 -1.057 0.125 T 0.031 0.133 T . . . 1.859 0.284 15.34 0.706 0.091 0.319 0.242 N c -0.795 -0.683 0.000 0.012 0.554 0.246 0 2.34 0.279 1.612 0.363 -1.646 0.008 0.999 0.424 0.009 0.108 6.452 0.210 . . . 0.4973 0.5654 0.5855 0.4950 0.6517 0.3453 0.4948 0.4871 0.4053 0.4984 0.5590 0.5889 0.5199 0.6286 0.3520 0.4804 0.4580 hom 2420.16 76 1 67288045 . C T 2420.16 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.12;MQ0=0;QD=31.84;VQSLOD=9.0691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2453,187,0 1 67390416 67390416 G C exonic WDR78 nonsynonymous SNV WDR78:NM_024763:exon1:c.C99G:p.C33W,WDR78:NM_207014:exon1:c.C99G:p.C33W 0.84 0.84 0.83 0.88 0.73 0.89 0.7845 0.8313 0.8854 0.8752 0.6343 0.7426 0.7819 0.8661 0.77 0.84 0.73 0.8 0.72 rs3008858 . . . . . . . . . . . . . 0.201 0.203 T 0.0 0.026 B 0.0 0.013 B 0.038 0.018 N 1 0.199 P 0 0.065 N 0.29 0.589 T -0.1 0.085 N 0.081 0.074 -1.105 0.036 T 0.028 0.118 T . . . -0.145 0.081 1.419 0.589 0.060 0.003 0.017 N c -1.531 -1.589 1.000 0.747 0.025 0.001 3 -3.46 0.044 -2.331 0.012 0.023 0.146 0.000 0.063 0.000 0.016 1.902 0.030 . ENSG00000198160.10|ENSG00000198160.10|ENSG00000198160.10|ENSG00000152763.12|ENSG00000198160.10|ENSG00000152763.12|ENSG00000231080.1|ENSG00000152763.12|ENSG00000152763.12|ENSG00000198160.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis|Testis|Thyroid|Whole_Blood 0.7857 0.8357 0.8756 0.8125 0.8754 0.6390 0.7432 0.7767 0.8658 0.7685 0.8406 0.8469 0.8642 0.8619 0.6440 0.7405 0.7454 hom 4636.40 147 1 67390416 . G C 4636.40 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2156;MQ=59.31;MQ0=0;QD=31.54;VQSLOD=5.9440;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4635,388,0 1 67390468 67390468 C G exonic WDR78 nonsynonymous SNV WDR78:NM_024763:exon1:c.G47C:p.G16A,WDR78:NM_207014:exon1:c.G47C:p.G16A 0.84 0.86 0.84 0.88 0.73 0.89 0.7859 0.8447 0.8858 0.8757 0.6343 0.7429 0.7819 0.8661 0.77 0.85 0.73 0.74 0.73 rs1886686 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.700 0.101 N 1 0.212 P -1.39 0.006 N 0.26 0.593 T 0.21 0.048 N 0.048 0.029 -0.993 0.317 T 0.018 0.075 T . . . -1.294 0.022 0.005 0.651 0.075 0.004 0.020 N c -1.346 -1.275 1.000 0.747 0.025 0.001 3 2.2 0.268 0.941 0.284 0.083 0.191 0.414 0.261 0.002 0.062 4.406 0.108 . ENSG00000198160.10|ENSG00000198160.10|ENSG00000198160.10|ENSG00000152763.12|ENSG00000198160.10|ENSG00000198160.10|ENSG00000152763.12|ENSG00000231080.1|ENSG00000152763.12|ENSG00000198160.10|ENSG00000152763.12|ENSG00000198160.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.7868 0.8496 0.8765 0.8125 0.8756 0.6390 0.7434 0.7778 0.8658 0.7720 0.8530 0.8481 0.8642 0.8617 0.6442 0.7403 0.7469 hom 6707.13 220 1 67390468 . C G 6707.13 Mask AC=2;AF=1.00;AN=2;DP=220;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6433;MQ=58.70;MQ0=0;QD=30.49;VQSLOD=8.3366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:6706,509,0 1 67450431 67450431 A G exonic MIER1 nonsynonymous SNV MIER1:NM_001077701:exon13:c.A1387G:p.R463G,MIER1:NM_001077700:exon14:c.A1546G:p.R516G,MIER1:NM_001146110:exon15:c.A1438G:p.R480G,MIER1:NM_001146112:exon15:c.A1306G:p.R436G,MIER1:NM_020948:exon15:c.A1438G:p.R480G,MIER1:NM_001350530:exon16:c.A1657G:p.R553G 0.0066 . 0.013 . 0.021 0.0031 0.0149 0.0033 0.0096 0.0003 0.0047 0.0231 0.0156 0.0040 0.019 0.0044 0.026 . 0.049 rs17129563 . . . . . . . . . . . . . 0.011 0.574 D 0.065 0.266 B 0.015 0.166 B 0.000 0.445 D 0.995 0.810 D 1.78 0.463 L 0.53 0.551 T -1.57 0.379 N 0.254 0.310 -1.073 0.086 T 0.055 0.234 T . . . 3.799 0.513 23.4 0.995 0.671 0.912 0.529 D c -0.107 0.088 1.000 0.747 0.731 0.878 0 5.55 0.832 4.312 0.587 1.199 0.960 1.000 0.715 1.000 0.888 14.582 0.677 . . . 0.0147 0.0035 0.0125 0.0100 0.0002 0.0047 0.0244 0.0146 0.0040 0.0145 0.0041 0.0143 0.0132 0 0.0040 0.0243 0.0184 het 1260.61 104 1 67450431 . A G 1260.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DP=104;Dels=0.00;FS=1.621;HRun=1;HaplotypeScore=6.7777;MQ=59.38;MQ0=0;MQRankSum=0.144;QD=12.12;ReadPosRankSum=-1.450;VQSLOD=4.3072;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,47:104:99:1291,0,1675 1 67558739 67558739 C T exonic C1orf141 synonymous SNV C1orf141:NM_001276351:exon8:c.G1152A:p.T384T 0.92 0.92 0.91 0.97 0.81 0.98 0.8872 0.9091 0.9403 0.9725 0.7715 0.8553 0.8830 0.9670 0.88 0.92 0.86 0.94 0.79 rs6588237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8857 0.9083 0.9351 0.8721 0.9702 0.7667 0.8582 0.8692 0.9659 0.8716 0.9102 0.9165 0.8709 0.9753 0.7742 0.8597 0.8490 hom 1475.56 51 1 67558739 . C T 1475.56 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.93;VQSLOD=13.2219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:51:99:1509,123,0 1 67560956 67560956 C T exonic C1orf141 nonsynonymous SNV C1orf141:NM_001276351:exon7:c.G565A:p.V189I 0.94 0.99 0.92 0.97 0.81 0.98 0.8923 0.9662 0.9421 0.9720 0.7709 0.8554 0.8863 0.9676 0.89 0.96 0.86 0.97 0.82 rs11208997 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.052 0.230 N 1.000 0.588 P -0.975 0.012 N 2.09 0.201 T 0.87 0.017 N 0.081 0.243 -0.913 0.466 T 0.005 0.015 T . . . -0.007 0.093 2.522 0.073 0.000 0.007 0.031 N c -1.013 -0.783 0.960 0.284 0.497 0.185 0 4.38 0.519 1.010 0.293 0.145 0.233 1.000 0.715 0.561 0.281 7.485 0.264 . ENSG00000152763.12 Testis 0.8884 0.9672 0.9372 0.8736 0.9705 0.7670 0.8583 0.8700 0.9661 0.8878 0.9672 0.9177 0.8709 0.9753 0.7739 0.8598 0.8510 hom 2610.95 92 1 67560956 . C T 2610.95 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=28.38;VQSLOD=8.0024;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2644,202,0 1 67633812 67633812 G T exonic IL23R nonsynonymous SNV IL23R:NM_144701:exon2:c.G9T:p.Q3H 0.53 0.47 0.37 0.64 0.52 0.62 0.5285 0.4910 0.3401 0.6498 0.4998 0.5295 0.5176 0.6286 0.52 0.5 0.53 0.41 0.57 rs1884444 COSM3751376 1(large_intestine) . . . . . . . . . . . 0.381 0.111 T 0.002 0.090 B 0.005 0.104 B 0.329 0.141 N 1 0.090 P 1.955 0.530 M -1.97 0.852 D 0.05 0.064 N 0.068 0.055 -1.029 0.207 T 0.181 0.529 T . . . 2.109 0.315 16.92 0.950 0.253 0.129 0.173 N c -0.675 -0.587 0.001 0.076 0.554 0.283 0 2.03 0.256 0.735 0.256 0.045 0.158 0.358 0.256 0.003 0.074 5.912 0.182 . . . 0.5240 0.4936 0.3546 0.5974 0.6438 0.5002 0.5309 0.5024 0.6294 0.5148 0.4905 0.4005 0.6074 0.6459 0.5006 0.5241 0.4898 hom 4539.65 149 1 67633812 . G T 4539.65 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6281;MQ=59.19;MQ0=0;QD=30.47;VQSLOD=9.3352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4539,355,0 1 67685387 67685387 T C exonic IL23R nonsynonymous SNV IL23R:NM_144701:exon7:c.T929C:p.L310P 0.88 0.76 0.85 0.99 0.86 0.95 0.8776 0.7680 0.9220 0.9831 0.8461 0.8626 0.8789 0.9334 0.83 0.76 0.87 0.85 0.85 rs7530511 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.291 N 1.000 0.189 P -2.655 0.000 N 0.61 0.535 T 3.73 0.001 N 0.136 0.471 -1.067 0.102 T 0.044 0.190 T . . . -0.550 0.053 0.165 0.066 0.000 0.001 0.005 N c -1.168 -1.022 0.001 0.085 0.554 0.283 0 4.88 0.630 2.370 0.436 0.066 0.173 0.195 0.240 0.053 0.166 10.070 0.413 Fibronectin type III|Immunoglobulin-like fold . . 0.8827 0.7688 0.9133 0.8960 0.9856 0.8447 0.8660 0.8802 0.9328 0.8409 0.7675 0.9021 0.8907 0.9864 0.8477 0.8604 0.8620 hom 4124.07 145 1 67685387 . T C 4124.07 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1363;MQ=59.48;MQ0=0;QD=28.44;VQSLOD=7.6581;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4123,331,0 1 67795319 67795319 T C exonic IL12RB2 synonymous SNV IL12RB2:NM_001258215:exon6:c.T714C:p.S238S,IL12RB2:NM_001258216:exon6:c.T714C:p.S238S,IL12RB2:NM_001559:exon6:c.T714C:p.S238S,IL12RB2:NM_001258214:exon7:c.T714C:p.S238S,IL12RB2:NM_001319233:exon7:c.T714C:p.S238S 0.85 0.72 0.9 0.81 0.98 0.91 0.9317 0.7517 0.8707 0.7884 0.9790 0.9861 0.9383 0.9243 0.91 0.76 0.99 0.85 0.98 rs1495963 COSM3997645 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9325 0.7474 0.8730 0.9790 0.7828 0.9799 0.9868 0.9440 0.9252 0.9025 0.7543 0.8780 0.9702 0.7861 0.9771 0.9802 0.9542 hom 2784.26 90 1 67795319 . T C 2784.26 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=30.94;VQSLOD=9.1573;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2817,226,0 1 67833527 67833527 G C exonic IL12RB2 nonsynonymous SNV IL12RB2:NM_001258215:exon10:c.G1278C:p.Q426H,IL12RB2:NM_001258216:exon10:c.G1278C:p.Q426H,IL12RB2:NM_001559:exon10:c.G1278C:p.Q426H,IL12RB2:NM_001258214:exon11:c.G1278C:p.Q426H,IL12RB2:NM_001319233:exon11:c.G1278C:p.Q426H 0.039 0.073 0.052 . 0.051 0.01 0.0386 0.0766 0.0295 0 0.0251 0.0470 0.0396 0.0130 0.059 0.079 0.049 0.065 0.082 rs2307145 . . . . . . . . . . . . . 0.142 0.254 T 0.008 0.135 B 0.065 0.259 B 0.722 0.099 N 0.883 0.280 P 2.52 0.738 M 0.38 0.576 T -0.66 0.191 N 0.031 0.021 -1.032 0.198 T 0.069 0.284 T . . . 1.010 0.191 10.72 0.947 0.247 0.093 0.149 N c -0.564 -0.564 1.000 0.747 0.638 0.428 0 1.98 0.252 0.058 0.141 1.048 0.713 0.032 0.204 0.860 0.359 5.164 0.143 Fibronectin type III|Immunoglobulin-like fold|Long hematopoietin receptor\x2c Gp130 family 2\x2c conserved site . . 0.0388 0.0791 0.0337 0.0784 0 0.0255 0.0467 0.0442 0.0137 0.0503 0.0792 0.0370 0.0927 0 0.0303 0.0439 0.0439 het 3102.50 250 1 67833527 . G C 3102.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.817;DP=250;DS;Dels=0.00;FS=2.992;HRun=0;HaplotypeScore=4.7446;MQ=59.40;MQ0=0;MQRankSum=-0.680;QD=12.41;ReadPosRankSum=0.860;VQSLOD=4.9554;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3132,0,3536 1 67852335 67852335 G A exonic IL12RB2 synonymous SNV IL12RB2:NM_001258215:exon12:c.G1671A:p.T557T,IL12RB2:NM_001559:exon14:c.G1929A:p.T643T,IL12RB2:NM_001258214:exon15:c.G1929A:p.T643T,IL12RB2:NM_001319233:exon15:c.G1929A:p.T643T 0.41 0.2 0.47 0.34 0.58 0.56 0.5277 0.2248 0.4921 0.3391 0.6899 0.5786 0.5584 0.5700 0.46 0.23 0.57 0.3 0.54 rs2228420 COSM3747066 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5306 0.2164 0.4858 0.4603 0.3358 0.6902 0.5804 0.5352 0.5698 0.4845 0.2278 0.5060 0.45 0.3265 0.6871 0.5971 0.5724 het 2448.66 206 1 67852335 . G A 2448.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.750;DP=206;DS;Dels=0.00;FS=7.221;HRun=0;HaplotypeScore=2.7649;MQ=59.28;MQ0=0;MQRankSum=-0.936;QD=11.89;ReadPosRankSum=-0.563;VQSLOD=4.7553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,97:206:99:2479,0,2850 1 67861520 67861520 C A exonic IL12RB2 synonymous SNV IL12RB2:NM_001258215:exon14:c.C2079A:p.P693P,IL12RB2:NM_001559:exon16:c.C2337A:p.P779P 0.56 0.51 0.59 0.38 0.68 0.65 0.6307 0.5100 0.5697 0.3711 0.7455 0.6760 0.6567 0.6546 0.61 0.51 0.67 0.59 0.68 rs2229546 COSM3997647 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6307 0.5052 0.5694 0.6672 0.3676 0.7463 0.6739 0.6436 0.6532 0.6228 0.5063 0.6002 0.6854 0.3666 0.7467 0.6864 0.6653 hom 8263.56 242 1 67861520 . C A 8263.56 Mask AC=2;AF=1.00;AN=2;DP=242;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2038;MQ=59.31;MQ0=0;QD=34.15;VQSLOD=8.9912;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:8263,656,0 1 68624878 68624878 C T exonic WLS synonymous SNV WLS:NM_001193334:exon2:c.G159A:p.A53A,WLS:NM_001002292:exon3:c.G426A:p.A142A,WLS:NM_024911:exon3:c.G432A:p.A144A 0.35 0.24 0.45 0.41 0.36 0.35 0.3638 0.2484 0.4021 0.4601 0.4586 0.3532 0.3998 0.3622 0.31 0.25 0.34 0.25 0.29 rs3748705 COSM3751378;COSM3751377 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3668 0.2457 0.4003 0.2846 0.4552 0.4590 0.3515 0.3547 0.3582 0.3512 0.2466 0.3878 0.2881 0.4590 0.4628 0.3720 0.3765 het 2138.18 170 1 68624878 . C T 2138.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.083;DP=170;Dels=0.00;FS=0.622;HRun=0;HaplotypeScore=1.9799;MQ=59.04;MQ0=0;MQRankSum=-0.924;QD=12.58;ReadPosRankSum=-0.424;VQSLOD=6.3643;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,83:170:99:2168,0,2089 1 72058552 72058552 G A exonic NEGR1 synonymous SNV NEGR1:NM_173808:exon6:c.C888T:p.T296T 0.85 0.66 0.93 0.85 1. 0.9 0.9433 0.6864 0.9309 0.8724 0.9968 0.9973 0.9659 0.9104 0.9 0.7 1. 0.81 0.99 rs1413368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9473 0.6761 0.9257 0.9899 0.8751 0.9966 0.9977 0.9695 0.9096 0.9005 0.6864 0.9236 0.9868 0.8747 0.9954 0.9979 0.9664 hom 2639.71 82 1 72058552 . G A 2639.71 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.72;MQ0=0;QD=32.19;VQSLOD=9.1087;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2673,205,0 1 74575182 74575182 C T exonic LRRIQ3 nonsynonymous SNV LRRIQ3:NM_001105659:exon5:c.G763A:p.A255T,LRRIQ3:NM_001322315:exon5:c.G763A:p.A255T 0.8 0.51 0.89 0.96 0.91 0.89 0.8853 0.5709 0.8775 0.9674 0.8483 0.9196 0.9045 0.9098 0.82 0.59 0.93 0.42 0.8 rs1340472 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.69 0.019 N 3.23 0.273 T 0.28 0.042 N 0.011 0.002 -0.974 0.364 T 0.004 0.012 T . . . -1.140 0.027 0.008 0.059 0.000 0.001 0.005 N c -1.769 -1.715 0.000 0.012 0.487 0.133 0 -1.36 0.086 -1.794 0.018 0.118 0.209 0.000 0.063 0.131 0.199 2.849 0.052 . ENSG00000237324.2|ENSG00000237324.2|ENSG00000254685.2|ENSG00000237324.2|ENSG00000259030.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000259030.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000254685.2|ENSG00000254685.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000237324.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.8867 0.5586 0.8692 0.9525 0.9668 0.8530 0.9196 0.9004 0.9102 0.8080 0.5638 0.8886 0.9470 0.9728 0.8494 0.9128 0.8616 hom 825.91 30 1 74575182 . C T 825.91 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;QD=27.53;VQSLOD=8.3828;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:69.19:859,69,0 1 74665493 74665493 G A exonic FPGT;FPGT-TNNI3K synonymous SNV FPGT-TNNI3K:NM_001112808:exon2:c.G267A:p.V89V,FPGT-TNNI3K:NM_001199327:exon2:c.G267A:p.V89V,FPGT:NM_001199328:exon2:c.G267A:p.V89V,FPGT:NM_001199329:exon2:c.G267A:p.V89V,FPGT:NM_003838:exon2:c.G267A:p.V89V 0.45 0.16 0.39 0.74 0.46 0.55 0.4794 0.2126 0.4536 0.7391 0.4802 0.4720 0.5308 0.5554 0.4 0.23 0.48 0.34 0.47 rs792310 COSM3751380 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4846 0.2082 0.4401 0.5457 0.7410 0.4827 0.4716 0.4784 0.5558 0.4132 0.2174 0.4603 0.5629 0.7321 0.5075 0.4638 0.4308 hom 3348.48 115 1 74665493 . G A 3348.48 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.66;MQ0=0;QD=29.12;VQSLOD=8.6776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3348,250,0 1 75036812 75036812 C T exonic ERICH3 nonsynonymous SNV ERICH3:NM_001002912:exon14:c.G4582A:p.V1528M 0.97 0.91 1. 1. 1. 1. 0.9918 0.9087 0.9969 1 1 0.9999 0.9945 0.9999 0.97 0.92 1. 0.98 1. rs9326116 . . . . . . . . . . . . . 0.416 0.099 T 0.005 0.119 B 0.006 0.112 B . . . 1 0.090 P -0.345 0.033 N 2.5 0.144 T 0.11 0.057 N 0.008 0.000 -0.929 0.444 T 0.004 0.014 T . . . -0.375 0.063 0.445 0.181 0.006 0.003 0.014 N c -2.060 -2.112 0.042 0.145 0.549 0.223 0 -6.58 0.017 -0.707 0.051 -2.509 0.003 0.000 0.063 0.000 0.016 5.253 0.147 . . . 0.9938 0.9085 0.9973 1 0.9999 1 0.9998 0.9980 0.9999 0.9741 0.9089 0.9940 1 1 1 1 0.9969 hom 7889.53 249 1 75036812 . C T 7889.53 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2736;MQ=59.55;MQ0=0;QD=31.68;VQSLOD=7.2232;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7889,623,0 1 75097426 75097426 G C exonic ERICH3 nonsynonymous SNV ERICH3:NM_001002912:exon7:c.C790G:p.P264A 0.32 0.23 0.47 0.11 0.53 0.34 0.4339 0.2884 0.4528 0.1351 0.4112 0.5155 0.4404 0.3481 0.46 0.32 0.53 0.3 0.53 rs11210490 COSM4785139;COSM3751383 1(large_intestine) . . . . . . . . . . . 0.01 0.564 D 0.944 0.657 P 0.572 0.616 P . . . 0.043 0.380 P 2.615 0.767 M 2.43 0.219 T -4.11 0.769 D 0.164 0.198 -1.055 0.129 T 0.067 0.274 T . . . 1.841 0.282 15.23 0.936 0.228 0.874 0.467 D c 0.117 0.041 0.000 0.068 0.487 0.133 0 3.49 0.389 2.680 0.463 0.142 0.226 1.000 0.715 0.756 0.323 9.857 0.401 . . . 0.4386 0.2842 0.4595 0.5195 0.1397 0.4170 0.5202 0.4671 0.3514 0.4112 0.2877 0.4654 0.5033 0.1547 0.4203 0.5023 0.4292 hom 2924.54 92 1 75097426 . G C 2924.54 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.75;MQ0=0;QD=31.79;VQSLOD=8.5766;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2958,226,0 1 75172001 75172001 T A exonic CRYZ synonymous SNV CRYZ:NM_001134759:exon7:c.A558T:p.G186G,CRYZ:NM_001130043:exon8:c.A867T:p.G289G,CRYZ:NM_001889:exon9:c.A969T:p.G323G,CRYZ:NM_001130042:exon10:c.A969T:p.G323G 0.22 0.035 0.37 0.11 0.46 0.22 0.3573 0.0913 0.3573 0.1076 0.3579 0.4554 0.4007 0.2547 0.34 0.11 0.46 0.22 0.5 rs7527057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3629 0.0819 0.3663 0.4087 0.1070 0.3652 0.4644 0.3837 0.2488 0.3202 0.0879 0.3720 0.3633 0.1077 0.3622 0.4621 0.3645 het 946.94 73 1 75172001 . T A 946.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.018;DP=73;Dels=0.00;FS=4.718;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.083;QD=12.97;ReadPosRankSum=-0.439;VQSLOD=4.4772;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,41:73:99:977,0,772 1 75190452 75190452 C T exonic CRYZ synonymous SNV CRYZ:NM_001130043:exon2:c.G54A:p.G18G,CRYZ:NM_001889:exon2:c.G54A:p.G18G,CRYZ:NM_001130042:exon3:c.G54A:p.G18G 0.77 0.83 0.8 0.77 0.75 0.71 0.7529 0.8116 0.8580 0.7896 0.7194 0.7394 0.7324 0.6920 0.77 0.81 0.74 0.76 0.75 rs1051122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7548 0.8156 0.8555 0.6912 0.7843 0.7157 0.7432 0.7320 0.6928 0.7625 0.8077 0.8373 0.6589 0.7900 0.7257 0.7421 0.7244 hom 2597.27 97 1 75190452 . C T 2597.27 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5783;MQ=58.71;MQ0=0;QD=26.78;VQSLOD=7.1865;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2630,205,0 1 75622616 75622616 C T exonic LHX8 synonymous SNV LHX8:NM_001256114:exon8:c.C819T:p.H273H,LHX8:NM_001001933:exon9:c.C849T:p.H283H 0.39 0.48 0.3 0.21 0.39 0.55 0.4105 0.4700 0.3034 0.1995 0.3591 0.4237 0.3811 0.5270 0.43 0.46 0.41 0.4 0.44 rs941032 COSM3997664 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4013 0.4691 0.3046 0.4081 0.2048 0.3612 0.4244 0.3806 0.5297 0.4176 0.4589 0.3529 0.4073 0.2301 0.3615 0.4298 0.4330 het 2945.30 248 1 75622616 . C T 2945.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.002;DP=248;DS;Dels=0.00;FS=3.587;HRun=0;HaplotypeScore=0.6651;MQ=59.07;MQ0=0;MQRankSum=0.012;QD=11.88;ReadPosRankSum=0.696;VQSLOD=6.4540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:133,115:248:99:2975,0,3455 1 75681511 75681511 T C exonic SLC44A5 synonymous SNV SLC44A5:NM_001320283:exon17:c.A1638G:p.Q546Q,SLC44A5:NM_001130058:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_152697:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_001320287:exon20:c.A1530G:p.Q510Q,SLC44A5:NM_001320285:exon21:c.A1530G:p.Q510Q 0.9 0.88 0.89 1. 0.83 0.9 0.8680 0.8653 0.8968 0.9945 0.8446 0.8441 0.8400 0.8909 0.85 0.86 0.84 0.84 0.75 rs595009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8692 0.8658 0.8940 0.8366 0.9945 0.8421 0.8464 0.8478 0.8902 0.8618 0.8634 0.8950 0.8477 0.9944 0.8521 0.8479 0.8535 het 525.17 64 1 75681511 . T C 525.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.329;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;MQRankSum=1.018;QD=8.21;ReadPosRankSum=0.321;VQSLOD=5.7493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,26:64:99:555,0,998 1 75716925 75716925 C T exonic SLC44A5 synonymous SNV SLC44A5:NM_001320283:exon5:c.G297A:p.V99V,SLC44A5:NM_001130058:exon7:c.G315A:p.V105V,SLC44A5:NM_152697:exon7:c.G315A:p.V105V,SLC44A5:NM_001320287:exon8:c.G189A:p.V63V,SLC44A5:NM_001320285:exon9:c.G189A:p.V63V 0.74 0.54 0.76 0.95 0.73 0.81 0.7398 0.5635 0.8420 0.9316 0.7224 0.7223 0.7196 0.7579 0.68 0.57 0.73 0.67 0.65 rs588098 COSM4144186;COSM4144185 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7458 0.5602 0.8364 0.6899 0.9317 0.7254 0.7236 0.7390 0.7496 0.6943 0.5769 0.8103 0.6821 0.9242 0.7298 0.7221 0.7143 hom 2165.01 82 1 75716925 . C T 2165.01 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7678;MQ=58.93;MQ0=0;QD=26.40;VQSLOD=6.7425;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2198,166,0 1 76198785 76198785 G A exonic ACADM synonymous SNV ACADM:NM_001286043:exon5:c.G336A:p.A112A 0.23 0.29 0.33 0.023 0.32 0.21 0.2730 0.2847 0.3031 0.0278 0.2810 0.3177 0.2666 0.1980 0.32 0.29 0.33 0.2 . rs3818855 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2754 0.2882 0.3093 0.2202 0.0267 0.2819 0.3268 0.2999 0.2010 0.2929 0.2939 0.2995 0.1921 0.0290 0.2781 0.3259 0.2941 het 895.16 82 1 76198785 . G A 895.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.125;DP=82;Dels=0.00;FS=0.835;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=1.070;QD=10.92;ReadPosRankSum=0.014;VQSLOD=6.4619;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,36:82:99:925,0,995 1 76227022 76227022 A G exonic ACADM synonymous SNV ACADM:NM_001286044:exon8:c.A594G:p.V198V,ACADM:NM_001286042:exon10:c.A1053G:p.V351V,ACADM:NM_000016:exon11:c.A1161G:p.V387V,ACADM:NM_001127328:exon11:c.A1173G:p.V391V,ACADM:NM_001286043:exon12:c.A1260G:p.V420V 0.17 0.14 0.25 0.023 0.3 0.2 0.2333 0.1473 0.2040 0.0273 0.2542 0.2885 0.2285 0.1846 0.25 0.16 0.3 0.17 0.23 rs1061337 COSM5038163;COSM5038164 1(skin) Benign|Likely benign not_specified|Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency RCV000077878.6|RCV000327270.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0220710:201450:ORPHA42:128596003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2347 0.1460 0.2144 0.2101 0.0258 0.2563 0.2950 0.2639 0.1876 0.2308 0.1540 0.2189 0.1788 0.0290 0.2564 0.2914 0.2571 het 1825.26 116 1 76227022 . A G 1825.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DP=116;Dels=0.00;FS=4.795;HRun=1;HaplotypeScore=1.4942;MQ=59.44;MQ0=0;MQRankSum=-1.840;QD=15.74;ReadPosRankSum=-0.802;VQSLOD=4.9856;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,64:116:99:1855,0,1378 1 76257892 76257892 A T exonic RABGGTB synonymous SNV RABGGTB:NM_004582:exon7:c.A606T:p.A202A 0.9 0.99 0.81 0.74 0.94 0.95 0.8991 0.9765 0.7313 0.7359 0.8951 0.9263 0.9251 0.9434 0.95 0.97 0.94 0.95 0.73 rs12703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8920 0.9758 0.7400 0.9368 0.7385 0.8963 0.9296 0.9055 0.9458 0.9159 0.9761 0.7613 0.9371 0.7559 0.8923 0.9131 0.8982 hom 3093.39 91 1 76257892 . A T 3093.39 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=33.99;VQSLOD=9.3022;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3126,244,0 1 76344705 76344705 T C exonic MSH4 synonymous SNV MSH4:NM_002440:exon12:c.T1569C:p.Y523Y 0.34 0.024 0.23 0.7 0.3 0.5 0.3450 0.0773 0.2664 0.6986 0.2861 0.3235 0.3215 0.4939 0.24 0.086 0.32 0.27 0.28 rs5745448 COSM3747078;COSM3747077 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3448 0.0691 0.2642 0.3050 0.7043 0.2906 0.3270 0.3005 0.4931 0.2719 0.0799 0.2667 0.2649 0.7197 0.2944 0.3281 0.3112 hom 2026.43 68 1 76344705 . T C 2026.43 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=29.80;VQSLOD=8.6457;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2059,153,0 1 76344711 76344711 A T exonic MSH4 synonymous SNV MSH4:NM_002440:exon12:c.A1575T:p.L525L 0.79 0.68 0.78 0.99 0.75 0.79 0.7963 0.7108 0.8371 0.9873 0.8060 0.7715 0.8223 0.8161 0.74 0.71 0.76 0.75 0.75 rs5745449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7981 0.7089 0.8259 0.8286 0.9875 0.8069 0.7654 0.7782 0.8119 0.7759 0.7147 0.8234 0.8377 0.9833 0.8055 0.7774 0.7898 hom 2150.45 75 1 76344711 . A T 2150.45 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;QD=28.67;VQSLOD=8.1308;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2183,166,0 1 76397972 76397972 C T exonic ASB17 nonsynonymous SNV ASB17:NM_080868:exon1:c.G5A:p.S2N 0.4 0.19 0.3 0.71 0.32 0.5 0.3856 0.2039 0.3538 0.7095 0.3116 0.3525 0.3516 0.5236 0.3 0.2 0.35 0.32 0.3 rs3795251 COSM3735983 1(liver);1(skin) . . . . . . . . . . . 0.216 0.192 T 0.002 0.090 B 0.002 0.063 B 0.003 0.350 N 0.990 0.242 P 0.46 0.130 N 1.3 0.356 T 0.53 0.028 N 0.046 0.026 -1.034 0.190 T 0.019 0.079 T . . . 1.428 0.234 12.93 0.905 0.192 0.647 0.322 D c -0.799 -0.628 0.000 0.012 0.487 0.133 0 3.13 0.349 1.337 0.332 -0.880 0.027 1.000 0.715 0.892 0.376 8.176 0.303 . ENSG00000057468.6|ENSG00000230863.2|ENSG00000057468.6 Muscle_Skeletal|Testis|Testis 0.3827 0.1960 0.3508 0.3139 0.7144 0.3159 0.3559 0.3385 0.5009 0.3301 0.2070 0.3473 0.2733 0.7335 0.3176 0.3604 0.3480 hom 1720.63 58 1 76397972 . C T 1720.63 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=29.67;VQSLOD=8.6711;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1754,138,0 1 77634948 77634948 G A exonic PIGK synonymous SNV PIGK:NM_005482:exon4:c.C372T:p.Y124Y 0.99 0.95 1. 1. 1. 1. 0.9955 0.9526 0.9982 1 1 0.9997 0.9967 0.9998 0.98 0.95 1. 0.96 0.9 rs1779199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9523 0.9980 0.9966 1 1 0.9999 0.9978 0.9998 0.9844 0.9456 0.9952 1 1 1 0.9999 0.9969 hom 1547.05 50 1 77634948 . G A 1547.05 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=30.94;VQSLOD=8.8264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1580,123,0 1 77759578 77759578 A G exonic AK5 synonymous SNV AK5:NM_012093:exon3:c.A270G:p.A90A,AK5:NM_174858:exon3:c.A348G:p.A116A 0.12 0.061 0.1 0.14 0.2 0.084 0.1681 0.0703 0.0740 0.1384 0.2874 0.2097 0.1600 0.0954 0.16 0.076 0.21 0.076 0.16 rs2815311 COSM3997667 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1650 0.0691 0.0780 0.0907 0.1396 0.2827 0.2105 0.1662 0.0936 0.1756 0.0747 0.0895 0.1026 0.1533 0.3064 0.2100 0.2163 het 1173.16 77 1 77759578 . A G 1173.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.858;DP=77;Dels=0.00;FS=10.060;HRun=1;HaplotypeScore=1.8279;MQ=59.52;MQ0=0;MQRankSum=-0.749;QD=15.24;ReadPosRankSum=0.966;VQSLOD=3.6112;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,45:77:99:1203,0,923 1 77763542 77763542 G A exonic AK5 synonymous SNV AK5:NM_012093:exon5:c.G531A:p.K177K,AK5:NM_174858:exon5:c.G609A:p.K203K 0.98 0.93 0.99 1. 1. 1. 0.9955 0.9504 0.9979 1 1 1.0000 0.9989 1 0.98 0.95 1. 0.99 1. rs1167206 . . Benign not_specified RCV000454614.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9483 0.9978 1 1 1 0.9999 0.9991 1 0.9856 0.9498 0.9988 1 1 1 0.9998 0.9949 hom 1710.07 58 1 77763542 . G A 1710.07 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.6651;MQ=59.60;MQ0=0;QD=29.48;VQSLOD=7.8991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1743,135,0 1 78024345 78024345 - TAT exonic AK5 nonframeshift insertion AK5:NM_012093:exon14:c.1601_1602insTAT:p.I535_F536insI,AK5:NM_174858:exon14:c.1679_1680insTAT:p.I561_F562insI 0.62 0.33 0.82 0.74 0.75 0.62 0.7135 0.3898 0.8362 0.7415 0.6975 0.7544 0.7015 0.6591 0.64 0.41 0.76 . . rs79671213 COSM4603455 19(upper_aerodigestive_tract);6(central_nervous_system) Benign not_specified RCV000454873.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7230 0.3872 0.8355 0.5896 0.7453 0.6972 0.7670 0.6955 0.6610 0.6576 0.4003 0.8425 0.6225 0.7335 0.7095 0.7752 0.6977 het 2795.82 112 1 78024345 . C CTAT 2795.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.033;DP=112;FS=1.580;HRun=0;HaplotypeScore=378.0882;MQ=58.24;MQ0=0;MQRankSum=-1.163;QD=24.96;ReadPosRankSum=1.087;set=variant2 GT:AD:DP:GQ:PL 0/1:64,47:112:99:2835,0,2206 1 78184325 78184325 A G exonic USP33 synonymous SNV USP33:NM_201624:exon16:c.T1693C:p.L565L,USP33:NM_015017:exon17:c.T1786C:p.L596L,USP33:NM_201626:exon17:c.T1762C:p.L588L 0.36 0.44 0.2 0.27 0.27 0.52 0.2947 0.4207 0.1798 0.2668 0.2921 0.2541 0.3274 0.4756 0.3 0.4 0.25 0.38 0.27 rs12142671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2851 0.4128 0.1715 0.4299 0.2600 0.2949 0.2416 0.3094 0.4642 0.2911 0.4052 0.1722 0.4106 0.2719 0.2811 0.2322 0.3098 het 519.15 56 1 78184325 . A G 519.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.706;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=-0.679;QD=9.27;ReadPosRankSum=0.176;VQSLOD=6.4814;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,22:56:99:549,0,849 1 78201745 78201745 G T exonic USP33 synonymous SNV USP33:NM_201624:exon6:c.C450A:p.A150A,USP33:NM_015017:exon7:c.C543A:p.A181A,USP33:NM_201626:exon7:c.C543A:p.A181A 0.49 0.75 0.26 0.41 0.33 0.55 0.3660 0.6916 0.2149 0.3797 0.3355 0.3078 0.3877 0.5059 0.43 0.68 0.3 0.5 0.16 rs2296227 COSM3751392 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3544 0.6919 0.2148 0.4957 0.3777 0.3389 0.2958 0.3849 0.5002 0.4092 0.6844 0.2200 0.4702 0.3691 0.3253 0.2847 0.3701 het 1653.17 151 1 78201745 . G T 1653.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.678;DP=151;Dels=0.00;FS=1.303;HRun=1;HaplotypeScore=3.6713;MQ=59.39;MQ0=0;MQRankSum=0.580;QD=10.95;ReadPosRankSum=-0.118;VQSLOD=6.4011;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,66:151:99:1683,0,1938 1 78280825 78280825 C T exonic MIGA1 synonymous SNV MIGA1:NM_001270384:exon7:c.C804T:p.L268L,MIGA1:NM_198549:exon7:c.C804T:p.L268L 0.0004 . . . 0.002 . 0.0033 0.0012 0.0003 0.0001 0.0043 0.0052 0.0034 0.0006 0.0035 0.0014 0.0047 . . rs34847707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0010 0.0004 0.0285 5.929e-05 0.0038 0.0043 0.0052 0.0006 0.0034 0.0015 0 0.0364 0 0.0034 0.0041 0.0081 het 513.29 41 1 78280825 . C T 513.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.183;DP=41;Dels=0.00;FS=12.143;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.760;QD=12.52;ReadPosRankSum=-0.146;VQSLOD=3.6589;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,24:41:99:543,0,454 1 79392756 79392756 C A exonic ADGRL4 nonsynonymous SNV ADGRL4:NM_022159:exon8:c.G898T:p.V300L 0.62 0.49 0.68 0.7 0.62 0.66 0.6478 0.5149 0.7028 0.6999 0.6762 0.6430 0.6417 0.6698 0.6 0.53 0.64 0.62 0.48 rs12754818 COSM3751404 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.189 P -2.085 0.002 N 2.73 0.119 T -0.39 0.136 N 0.096 0.097 -0.917 0.460 T 0.003 0.009 T . . . 1.469 0.239 13.15 0.412 0.029 0.197 0.206 N c -0.774 -0.497 0.000 0.072 0.707 0.730 0 3.74 0.419 1.395 0.339 -0.529 0.049 1.000 0.715 0.876 0.367 5.264 0.148 GAIN domain\x2c N-terminal . . 0.6507 0.5085 0.6979 0.6085 0.7047 0.6684 0.6435 0.6459 0.6677 0.6195 0.5201 0.6743 0.5894 0.6900 0.6559 0.6570 0.6497 hom 1219.08 43 1 79392756 . C A 1219.08 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;QD=28.35;VQSLOD=8.4675;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:93.30:1252,93,0 1 82421596 82421596 C T exonic ADGRL2 synonymous SNV ADGRL2:NM_001297705:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297706:exon9:c.C1818T:p.P606P,ADGRL2:NM_001350699:exon9:c.C1818T:p.P606P,ADGRL2:NM_012302:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297704:exon10:c.C1818T:p.P606P,ADGRL2:NM_001330645:exon10:c.C1857T:p.P619P,ADGRL2:NM_001350698:exon11:c.C1869T:p.P623P 0.99 0.98 0.99 1. 1. 1. 0.9979 0.9770 0.9987 1 1 1.0000 1 1 0.99 0.98 1. 0.98 0.98 rs11163397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9768 0.9990 1 1 1 1.0000 0.9996 1.0000 0.9936 0.9778 0.9976 1 1 1 1 0.9969 hom 4015.60 134 1 82421596 . C T 4015.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.602;DP=134;Dels=0.00;FS=3.457;HRun=0;HaplotypeScore=1.9315;MQ=59.83;MQ0=0;MQRankSum=-1.680;QD=29.97;ReadPosRankSum=0.378;VQSLOD=4.2090;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,133:134:99:3982,271,0 1 82453022 82453022 A G exonic ADGRL2 synonymous SNV ADGRL2:NM_001297705:exon20:c.A3507G:p.L1169L 0.0046 0.0008 0.0014 . 0.018 0.0031 0.0092 0.0034 0.0018 0 0.0065 0.0147 0.0072 0.0019 0.01 0.0051 0.012 0.022 . rs76995529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0086 0.0024 0.0022 0.0108 0 0.0058 0.0153 0.0071 0.0016 0.0073 0.0034 0.0024 0.0066 0 0.0049 0.0112 0.0061 het 255.19 31 1 82453022 . A G 255.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.002;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=58.79;MQ0=0;MQRankSum=0.723;QD=8.23;ReadPosRankSum=1.094;VQSLOD=5.2431;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,11:31:99:285,0,545 1 85009894 85009894 A G exonic SPATA1 nonsynonymous SNV SPATA1:NM_001310156:exon9:c.A793G:p.K265E 0.24 0.23 0.16 0.2 0.21 0.36 0.3230 0.3025 0.2245 0.2464 0.2557 0.3269 0.3059 0.4090 0.23 0.25 0.22 0.24 . rs12143652 COSM1126937 1(skin);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2163 0.2374 0.1025 0.2560 0.1716 0.1733 0.2231 0.2028 0.3587 0.2087 0.2350 0.1289 0.1987 0.1768 0.1646 0.2121 0.2031 het 148.64 19 1 85009894 . A G 148.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=19;Dels=0.00;FS=2.077;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.044;QD=7.82;ReadPosRankSum=0.395;VQSLOD=5.9180;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:179,0,284 1 85016177 85016177 A G exonic SPATA1 synonymous SNV SPATA1:NM_001310156:exon12:c.A1254G:p.L418L 0.48 0.76 0.41 0.26 0.35 0.49 0.5023 0.7362 0.4706 0.3609 0.4414 0.4652 0.4646 0.5507 0.46 0.68 0.36 0.59 . rs1400777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3744 0.7055 0.3086 0.3556 0.2168 0.3024 0.3613 0.3593 0.5055 0.4362 0.7023 0.3628 0.3344 0.2363 0.2938 0.3464 0.3678 hom 552.23 21 1 85016177 . A G 552.23 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.30;VQSLOD=13.6355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:42.14:585,42,0 1 85029077 85029077 C T exonic CTBS nonsynonymous SNV CTBS:NM_004388:exon6:c.G820A:p.V274I 0.15 0.11 0.13 0.03 0.2 0.28 0.1973 0.1332 0.0813 0.0316 0.1818 0.2228 0.2104 0.3068 0.19 0.13 0.22 0.18 0.25 rs15911 COSM4144198 1(pancreas);1(thyroid) . . . . . . . . . . . 0.109 0.292 T 0.489 0.351 P 0.257 0.376 B 0.000 0.497 D 0.017 0.399 P 3.1 0.878 M 3.21 0.071 T -0.63 0.185 N 0.039 0.019 -1.041 0.170 T 0.014 0.055 T . . . 3.178 0.441 22.7 0.996 0.747 0.862 0.452 D c 0.027 0.041 0.969 0.290 0.732 0.924 0 2.56 0.297 0.738 0.256 0.935 0.490 0.991 0.370 0.996 0.625 5.745 0.173 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase\x2c catalytic domain ENSG00000122432.12|ENSG00000122432.12|ENSG00000174021.6|ENSG00000122432.12 Nerve_Tibial|Testis|Thyroid|Thyroid 0.1923 0.1259 0.0867 0.2608 0.0341 0.1746 0.2191 0.1846 0.3043 0.1661 0.1179 0.1178 0.1987 0.0425 0.1669 0.2085 0.1789 het 422.28 43 1 85029077 . C T 422.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.556;DP=43;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.768;QD=9.82;ReadPosRankSum=-0.038;VQSLOD=5.9861;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,20:43:99:452,0,597 1 85031630 85031630 G A exonic CTBS synonymous SNV CTBS:NM_004388:exon4:c.C591T:p.I197I 0.3 0.34 0.26 0.23 0.25 0.38 0.2713 0.3292 0.2030 0.2140 0.1991 0.2607 0.2676 0.3846 0.28 0.33 0.26 0.32 0.33 rs2994953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2591 0.3165 0.1965 0.3129 0.2095 0.1949 0.2547 0.2439 0.3750 0.2576 0.3238 0.2488 0.2567 0.2289 0.1840 0.2418 0.2244 het 1479.50 90 1 85031630 . G A 1479.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.035;DP=90;Dels=0.00;FS=2.968;HRun=1;HaplotypeScore=0.5784;MQ=59.12;MQ0=0;MQRankSum=0.353;QD=16.44;ReadPosRankSum=1.255;VQSLOD=6.0757;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,53:90:99:1509,0,820 1 85039955 85039955 G A exonic CTBS synonymous SNV CTBS:NM_004388:exon1:c.C144T:p.L48L 0.27 0.26 0.25 0.23 0.25 0.39 0.3475 0.3431 0.2988 0.2918 0.3072 0.3361 0.3862 0.4284 0.25 0.25 0.25 0.23 0.16 rs2303307 COSM1561051 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2633 0.2551 0.2043 0.3436 0.2197 0.2032 0.2556 0.2579 0.3933 0.2427 0.2528 0.2368 0.2872 0.2287 0.1964 0.2492 0.2346 het 166.12 15 1 85039955 . G A 166.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.927;DP=15;Dels=0.00;FS=9.249;HRun=1;HaplotypeScore=0.8941;MQ=58.45;MQ0=0;MQRankSum=-1.324;QD=11.07;ReadPosRankSum=-0.150;VQSLOD=4.2887;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:196,0,215 1 85488030 85488030 G A exonic MCOLN3 synonymous SNV MCOLN3:NM_001253693:exon9:c.C981T:p.L327L,MCOLN3:NM_018298:exon10:c.C1149T:p.L383L 0.8 0.83 0.75 0.73 0.84 0.8 0.8234 0.8339 0.7250 0.7368 0.8109 0.8549 0.8238 0.8086 0.85 0.83 0.86 0.84 0.84 rs2028304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8190 0.8336 0.7314 0.8811 0.7373 0.8155 0.8535 0.8275 0.8091 0.8341 0.8351 0.7446 0.8676 0.7419 0.8268 0.8494 0.8337 hom 2858.17 96 1 85488030 . G A 2858.17 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.35;MQ0=0;QD=29.77;VQSLOD=9.0061;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2891,220,0 1 85594466 85594466 G A exonic WDR63 nonsynonymous SNV WDR63:NM_001288563:exon20:c.G2276A:p.R759H,WDR63:NM_145172:exon21:c.G2393A:p.R798H 0.22 0.32 0.24 0.21 0.18 0.097 0.1751 0.3079 0.2040 0.2373 0.1649 0.1678 0.1788 0.0735 0.21 0.3 0.17 0.23 0.15 rs709783 COSM1344585 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.009 0.305 N 0.914 0.274 P -1.9 0.002 N 1.08 0.394 T 3.25 0.001 N 0.028 0.055 -1.026 0.216 T 0.016 0.064 T . . . 1.678 0.263 14.28 0.615 0.066 0.236 0.219 N c -0.752 -0.513 0.568 0.215 0.554 0.246 0 3.49 0.389 1.149 0.310 -0.199 0.102 0.954 0.330 0.926 0.400 9.915 0.404 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain ENSG00000162643.8|ENSG00000162643.8 Cells_Transformed_fibroblasts|Testis 0.1733 0.3085 0.1955 0.2365 0.2317 0.1640 0.1623 0.1849 0.0725 0.2089 0.2992 0.1974 0.2119 0.2401 0.1694 0.1661 0.1605 het 952.30 125 1 85594466 . G A 952.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.327;DP=125;Dels=0.00;FS=2.495;HRun=0;HaplotypeScore=4.2355;MQ=58.44;MQ0=0;MQRankSum=0.482;QD=7.62;ReadPosRankSum=-0.659;VQSLOD=4.9086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,43:125:99:982,0,1801 1 85624549 85624549 C T exonic SYDE2 nonsynonymous SNV SYDE2:NM_032184:exon7:c.G3469A:p.V1157I 1. 1. 1. 1. 1. 1. 0.9995 0.9961 0.9999 1 1 0.9996 1 0.9999 1. 1. 1. 1. . rs709786 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.481 N 1.000 0.186 P -2.1 0.002 N 0.99 0.418 T 0.24 0.045 N 0.017 0.005 -0.946 0.416 T 0.009 0.033 T . . . 0.328 0.126 5.960 0.281 0.014 0.162 0.191 N c -0.881 -0.613 0.776 0.237 0.638 0.428 0 2.56 0.297 2.143 0.416 0.154 0.240 0.990 0.367 0.995 0.604 6.744 0.225 . . . 0.9996 0.9965 1.0000 1 1 1 0.9997 1 0.9999 0.9986 0.9955 1 1 1 1 0.9998 1 hom 957.97 34 1 85624549 . C T 957.97 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=28.18;VQSLOD=8.6517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:75.24:991,75,0 1 85624864 85624864 G A exonic SYDE2 synonymous SNV SYDE2:NM_032184:exon7:c.C3154T:p.L1052L 0.98 0.93 0.99 1. 1. 1. 0.9956 0.9487 0.9982 1 1 0.9999 0.9978 0.9999 0.99 0.95 1. 0.99 . rs817412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9468 0.9977 1 1 1 0.9999 0.9976 0.9998 0.9844 0.9451 0.9988 1 1 1 1 0.9969 hom 3482.47 102 1 85624864 . G A 3482.47 Mask AC=2;AF=1.00;AN=2;DP=102;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5226;MQ=59.18;MQ0=0;QD=34.14;VQSLOD=9.6517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3482,274,0 1 85648620 85648620 C T exonic SYDE2 nonsynonymous SNV SYDE2:NM_032184:exon3:c.G1705A:p.V569I 0.98 0.93 0.99 1. 1. 1. 0.9953 0.9455 0.9978 1 1 0.9999 0.9978 0.9999 0.98 0.95 1. 0.99 . rs817443 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.919 0.085 N 1 0.090 P -0.55 0.024 N 3.34 0.061 T -0.26 0.112 N 0.008 0.003 -0.913 0.465 T 0.001 0.004 T . . . -1.053 0.030 0.012 0.356 0.022 0.005 0.025 N c -1.382 -1.207 0.959 0.283 0.554 0.283 0 -1.28 0.088 -0.574 0.059 0.154 0.240 0.001 0.137 0.914 0.390 7.034 0.240 . . . 0.9960 0.9433 0.9974 1 1 1 0.9999 0.9971 0.9998 0.9838 0.9429 0.9988 1 1 1 1 0.9959 hom 5164.93 170 1 85648620 . C T 5164.93 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2820;MQ=58.77;MQ0=0;QD=30.38;VQSLOD=7.9478;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:5164,403,0 1 85742012 85742012 G C exonic BCL10 synonymous SNV BCL10:NM_001320715:exon1:c.C24G:p.L8L,BCL10:NM_003921:exon1:c.C24G:p.L8L 0.23 0.27 0.2 0.074 0.31 0.27 0.2755 0.2510 0.1866 0.0773 0.3180 0.3150 0.3073 0.2792 0.29 0.25 0.31 0.28 0.36 rs11576939 COSM4144206 1(thyroid) Benign not_specified RCV000455048.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2720 0.2455 0.1899 0.3332 0.0762 0.3155 0.3151 0.2852 0.2764 0.2826 0.2455 0.2045 0.3477 0.0759 0.3263 0.3191 0.2888 hom 1904.60 61 1 85742012 . G C 1904.60 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.39;MQ0=0;QD=31.22;VQSLOD=9.3508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1938,147,0 1 86173943 86173943 C T exonic ZNHIT6 nonsynonymous SNV ZNHIT6:NM_001170670:exon1:c.G25A:p.G9R,ZNHIT6:NM_017953:exon1:c.G25A:p.G9R 0.025 0.0061 0.045 . 0.075 0.0092 0.0591 0.0117 0.0378 0.0001 0.0751 0.0841 0.0529 0.0245 0.06 0.018 0.082 0.011 0.11 rs17399721 . . . . . . . . . . . . . 0.026 0.555 D 0.839 0.480 P 0.276 0.384 B 0.765 0.096 N 1 0.090 N 0.55 0.145 N 0.86 0.468 T -0.96 0.255 N 0.082 0.081 -1.089 0.058 T 0.046 0.198 T . . . 3.584 0.488 23.2 0.993 0.582 0.824 0.414 D c -0.067 -0.109 1.000 0.747 0.442 0.072 0 3.81 0.429 3.182 0.504 0.883 0.387 0.233 0.245 0.576 0.284 11.495 0.495 . ENSG00000117174.6|ENSG00000117174.6 Lung|Thyroid 0.0586 0.0110 0.0409 0.0949 5.805e-05 0.0762 0.0819 0.0692 0.0247 0.0524 0.0147 0.0537 0.0828 0 0.0678 0.0747 0.0704 het 2021.26 145 1 86173943 . C T 2021.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.188;DP=145;Dels=0.00;FS=7.519;HRun=2;HaplotypeScore=2.5141;MQ=59.58;MQ0=0;MQRankSum=0.855;QD=13.94;ReadPosRankSum=1.164;VQSLOD=4.8205;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,78:145:99:2051,0,1995 1 86375654 86375654 C G exonic COL24A1 synonymous SNV COL24A1:NM_001349955:exon26:c.G549C:p.P183P,COL24A1:NM_152890:exon26:c.G2649C:p.P883P 0.69 0.57 0.78 0.8 0.7 0.67 0.7044 0.6028 0.8058 0.7997 0.6884 0.7039 0.71 0.6525 0.67 0.62 0.7 0.65 0.66 rs1502657 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7100 0.6008 0.7967 0.7579 0.7969 0.6981 0.6986 0.7342 0.6512 0.6717 0.6015 0.7770 0.7649 0.7729 0.6847 0.6889 0.7012 hom 3940.37 135 1 86375654 . C G 3940.37 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7046;MQ=58.55;MQ0=0;QD=29.19;VQSLOD=8.5443;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:3940,298,0 1 86557967 86557967 G A exonic COL24A1 nonsynonymous SNV COL24A1:NM_152890:exon6:c.C1636T:p.P546S 0.37 0.36 0.45 0.38 0.38 0.31 0.3614 0.3563 0.3926 0.3950 0.2671 0.3751 0.3733 0.3068 0.37 0.35 0.38 0.39 0.34 rs11161732 COSM3997686 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.017 0.512 D 0.0 0.119 B 0.0 0.139 B 0.045 0.236 N 1.000 0.192 P 0.47 0.131 N -3.21 0.933 D 1.12 0.012 N 0.049 0.084 -0.568 0.661 T 0.363 0.724 T . . . 2.193 0.325 17.46 0.793 0.122 0.621 0.314 D c -0.505 -0.290 0.000 0.065 0.554 0.246 0 3.91 0.442 2.469 0.445 0.015 0.141 1.000 0.715 0.970 0.461 11.155 0.475 . ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Nerve_Tibial|Ovary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3644 0.3551 0.4148 0.4536 0.3868 0.2648 0.3745 0.3861 0.3057 0.3550 0.3534 0.4069 0.4503 0.3876 0.2826 0.3652 0.3439 het 388.43 39 1 86557967 . G A 388.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.629;DP=39;Dels=0.00;FS=4.977;HRun=0;HaplotypeScore=1.9512;MQ=60.00;MQ0=0;MQRankSum=-1.402;QD=9.96;ReadPosRankSum=0.411;VQSLOD=5.0253;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,17:39:99:418,0,545 1 86590915 86590915 G A exonic COL24A1 synonymous SNV COL24A1:NM_152890:exon3:c.C1104T:p.S368S 0.96 0.89 0.99 0.97 1. 1. 0.9892 0.9084 0.9953 0.9693 1 0.9989 0.9978 0.9998 0.97 0.92 1. 0.96 0.99 rs2174767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9906 0.9086 0.9958 0.9878 0.9693 1 0.9994 0.9934 0.9996 0.9729 0.9109 0.9928 0.9868 0.9773 1 0.9997 0.9898 hom 4279.46 140 1 86590915 . G A 4279.46 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4942;MQ=59.84;MQ0=0;QD=30.57;VQSLOD=8.9055;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4279,340,0 1 86590948 86590948 A G exonic COL24A1 synonymous SNV COL24A1:NM_152890:exon3:c.T1071C:p.S357S 0.14 0.079 0.16 0.06 0.17 0.25 0.1631 0.0824 0.1901 0.0646 0.2624 0.1528 0.1689 0.2450 0.13 0.086 0.15 0.12 0.11 rs11161746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1638 0.0821 0.1862 0.0793 0.0640 0.2603 0.1517 0.1480 0.2397 0.1487 0.0883 0.1623 0.0828 0.0652 0.2438 0.1668 0.2171 het 1348.27 115 1 86590948 . A G 1348.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.636;DP=115;Dels=0.00;FS=1.515;HRun=0;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;MQRankSum=0.665;QD=11.72;ReadPosRankSum=-0.710;VQSLOD=6.5517;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,49:115:99:1378,0,1751 1 86591209 86591209 C T exonic COL24A1 synonymous SNV COL24A1:NM_152890:exon3:c.G810A:p.P270P . . . . . . 0.0001 0 0 0 0 0.0002 0 0.0002 0.0002 . 0.0002 . . rs372411859 COSM4617858 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 2.992e-05 0.0001 5.801e-05 0 0.0003 0 9.747e-05 0.0002 0 0 0 0 0 0.0003 0 het 1316.22 116 1 86591209 . C T 1316.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.979;DP=116;Dels=0.00;FS=8.740;HRun=0;HaplotypeScore=2.2426;MQ=59.80;MQ0=0;MQRankSum=1.319;QD=11.35;ReadPosRankSum=-0.456;VQSLOD=2.8190;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,55:116:99:1346,0,1616 1 86591837 86591837 G A exonic COL24A1 nonsynonymous SNV COL24A1:NM_152890:exon3:c.C182T:p.A61V 0.65 0.54 0.72 0.62 0.74 0.66 0.7053 0.5715 0.7325 0.6218 0.6578 0.7430 0.7220 0.6746 0.7 0.6 0.74 0.49 0.74 rs11161747 COSM5438811 1(oesophagus) . . . . . . . . . . . 0.44 0.092 T 0.0 0.026 B 0.0 0.013 B 0.285 0.149 N 1 0.090 P -0.83 0.015 N -2.68 0.904 D 0.4 0.035 N 0.006 0.176 -1.011 0.266 T 0.185 0.534 T . . . 1.160 0.206 11.53 0.788 0.121 0.174 0.196 N c -0.782 -0.596 0.000 0.012 0.554 0.246 0 0.032 0.134 -0.025 0.123 0.201 0.252 0.457 0.264 0.999 0.750 0.961 0.013 Concanavalin A-like lectin/glucanase domain ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10 Artery_Aorta|Brain_Caudate_basal_ganglia|Brain_Putamen_basal_ganglia|Nerve_Tibial 0.7080 0.5722 0.7282 0.7809 0.6190 0.6592 0.7434 0.7329 0.6787 0.6724 0.5679 0.7345 0.7848 0.6423 0.6759 0.7284 0.6916 het 921.89 72 1 86591837 . G A 921.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.841;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7012;MQ=59.74;MQ0=0;MQRankSum=-0.539;QD=12.80;ReadPosRankSum=-0.412;VQSLOD=6.3796;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,40:72:99:952,0,804 1 86818572 86818572 T C exonic ODF2L synonymous SNV ODF2L:NM_001184766:exon15:c.A1617G:p.E539E,ODF2L:NM_001184765:exon16:c.A1704G:p.E568E,ODF2L:NM_001007022:exon17:c.A1863G:p.E621E,ODF2L:NM_020729:exon17:c.A1815G:p.E605E 0.74 0.76 0.66 0.83 0.65 0.79 0.6915 0.7572 0.6304 0.8324 0.7032 0.6544 0.7164 0.7608 0.69 0.76 0.65 0.77 0.43 rs272496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6847 0.7531 0.6265 0.6670 0.8205 0.7057 0.6489 0.6869 0.7577 0.6986 0.7582 0.6376 0.6788 0.8243 0.7013 0.6551 0.6738 het 900.12 81 1 86818572 . T C 900.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.215;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9671;MQ=59.25;MQ0=0;MQRankSum=0.263;QD=11.11;ReadPosRankSum=-0.703;VQSLOD=5.7956;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,34:81:99:930,0,1134 1 86820267 86820267 C T exonic ODF2L synonymous SNV ODF2L:NM_001184766:exon14:c.G1467A:p.E489E,ODF2L:NM_001184765:exon15:c.G1554A:p.E518E,ODF2L:NM_001007022:exon16:c.G1713A:p.E571E,ODF2L:NM_020729:exon16:c.G1665A:p.E555E 0.75 0.78 0.67 0.83 0.66 0.8 0.7020 0.7764 0.6369 0.8313 0.7254 0.6625 0.7252 0.7815 0.7 0.77 0.66 0.79 0.58 rs1182098 COSM3747088;COSM3747089;COSM3747087 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6982 0.7741 0.6382 0.6814 0.8212 0.7270 0.6598 0.6988 0.7807 0.7134 0.7778 0.6483 0.6987 0.8251 0.7233 0.6666 0.6955 het 1133.77 92 1 86820267 . C T 1133.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.101;DP=92;Dels=0.00;FS=1.697;HRun=1;HaplotypeScore=0.9469;MQ=59.19;MQ0=0;MQRankSum=0.273;QD=12.32;ReadPosRankSum=-0.687;VQSLOD=6.8087;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,45:92:99:1164,0,1201 1 86838158 86838158 C T exonic ODF2L synonymous SNV ODF2L:NM_001007022:exon9:c.G876A:p.V292V,ODF2L:NM_001184765:exon9:c.G876A:p.V292V,ODF2L:NM_001184766:exon9:c.G876A:p.V292V,ODF2L:NM_020729:exon9:c.G876A:p.V292V 0.75 0.78 0.67 0.83 0.66 0.8 0.7161 0.7767 0.6507 0.8350 0.7340 0.6778 0.7275 0.7798 0.7 0.77 0.66 0.77 0.11 rs421105 COSM3747091;COSM3747090;COSM3747092 1(urinary_tract);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6697 0.7479 0.5792 0.6613 0.7960 0.7188 0.6328 0.6631 0.7578 0.7143 0.7786 0.6473 0.6987 0.8253 0.7235 0.6679 0.6977 het 133.29 26 1 86838158 . C T 133.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.639;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=57.57;MQ0=0;MQRankSum=1.583;QD=5.13;ReadPosRankSum=1.417;VQSLOD=4.5461;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,8:26:99:163,0,415 1 86852621 86852621 A G exonic ODF2L synonymous SNV ODF2L:NM_001007022:exon2:c.T90C:p.C30C,ODF2L:NM_001184765:exon2:c.T90C:p.C30C,ODF2L:NM_001184766:exon2:c.T90C:p.C30C,ODF2L:NM_020729:exon2:c.T90C:p.C30C 0.31 0.24 0.26 0.42 0.32 0.35 0.3304 0.2699 0.2941 0.4036 0.3266 0.3356 0.3260 0.3361 0.32 0.27 0.34 0.33 0.28 rs2390096 COSM3751425;COSM146551;COSM3751426 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3275 0.2598 0.2836 0.3032 0.3940 0.3321 0.3389 0.3290 0.3338 0.3291 0.2769 0.3101 0.2633 0.4187 0.3317 0.3526 0.3152 het 1811.27 150 1 86852621 . A G 1811.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.411;DP=150;Dels=0.00;FS=2.102;HRun=0;HaplotypeScore=7.6577;MQ=59.10;MQ0=0;MQRankSum=0.162;QD=12.08;ReadPosRankSum=-0.109;VQSLOD=4.1490;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,73:150:99:1841,0,1772 1 86900332 86900332 T C exonic CLCA2 synonymous SNV CLCA2:NM_006536:exon6:c.T876C:p.N292N 0.23 0.15 0.32 0.18 0.34 0.23 0.2978 0.1680 0.3596 0.1784 0.2756 0.3366 0.2797 0.2517 0.28 0.17 0.34 0.18 0.37 rs17449526 COSM3997687 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3019 0.1698 0.3583 0.3214 0.1849 0.2741 0.3388 0.3008 0.2523 0.2731 0.1747 0.3493 0.2980 0.1789 0.2772 0.3325 0.3086 het 3033.32 235 1 86900332 . T C 3033.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.928;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8136;MQ=58.89;MQ0=0;MQRankSum=0.289;QD=12.91;ReadPosRankSum=-0.913;VQSLOD=6.1406;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,117:235:99:3063,0,3151 1 86900372 86900372 C G exonic CLCA2 nonsynonymous SNV CLCA2:NM_006536:exon6:c.C916G:p.Q306E 0.23 0.15 0.32 0.18 0.34 0.23 0.2977 0.1679 0.3594 0.1782 0.2757 0.3366 0.2786 0.2518 0.28 0.17 0.34 0.18 0.36 rs17409304 . . . . . . . . . . . . . 0.012 0.546 D 0.976 0.564 D 0.523 0.465 P 0.000 0.843 D 0.007 0.418 P 3.03 0.867 M 3.87 0.036 T -2.06 0.471 N 0.114 0.124 -1.097 0.044 T 0.018 0.076 T . . . 5.962 0.819 27.7 0.995 0.667 0.954 0.643 D c 0.688 0.697 0.995 0.338 0.516 0.203 0 5.21 0.719 4.375 0.591 0.935 0.490 0.998 0.411 0.682 0.305 16.064 0.806 . ENSG00000137975.7|ENSG00000122417.11|ENSG00000137975.7|ENSG00000137975.7|ENSG00000137975.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.3019 0.1697 0.3583 0.3213 0.1847 0.2740 0.3387 0.3008 0.2524 0.2732 0.1745 0.3508 0.2980 0.1778 0.2774 0.3328 0.3086 het 3046.29 224 1 86900372 . C G 3046.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.499;DP=224;Dels=0.00;FS=3.169;HRun=0;HaplotypeScore=7.6424;MQ=58.75;MQ0=0;MQRankSum=0.275;QD=13.60;ReadPosRankSum=0.497;VQSLOD=4.8692;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,114:224:99:3076,0,2815 1 86913265 86913265 C T exonic CLCA2 synonymous SNV CLCA2:NM_006536:exon11:c.C1788T:p.R596R 0.25 0.091 0.2 0.39 0.26 0.36 0.2790 0.1247 0.2558 0.3797 0.3006 0.2769 0.2874 0.3393 0.23 0.13 0.27 0.28 0.3 rs2275001 COSM3751427 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2828 0.1209 0.2523 0.2649 0.3789 0.3115 0.2791 0.2784 0.3419 0.2525 0.1276 0.2530 0.2384 0.3916 0.3108 0.2943 0.2933 het 2343.40 205 1 86913265 . C T 2343.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.501;DP=205;Dels=0.00;FS=9.348;HRun=0;HaplotypeScore=7.4567;MQ=59.16;MQ0=0;MQRankSum=1.191;QD=11.43;ReadPosRankSum=0.570;VQSLOD=3.4522;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,94:205:99:2373,0,2880 1 86920904 86920904 A G exonic CLCA2 synonymous SNV CLCA2:NM_006536:exon14:c.A2526G:p.Q842Q 0.33 0.21 0.24 0.44 0.34 0.43 0.3432 0.2466 0.2984 0.4193 0.3506 0.3371 0.3524 0.4165 0.3 0.25 0.33 0.38 0.33 rs2390057 COSM146552 1(stomach);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3441 0.2417 0.2963 0.3458 0.4234 0.3604 0.3370 0.3444 0.4162 0.3235 0.2470 0.3026 0.3477 0.4504 0.3632 0.3440 0.3503 het 1187.09 97 1 86920904 . A G 1187.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.286;DP=97;Dels=0.00;FS=1.628;HRun=0;HaplotypeScore=0.9832;MQ=59.38;MQ0=0;MQRankSum=-0.620;QD=12.24;ReadPosRankSum=-0.105;VQSLOD=6.4379;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,44:97:99:1217,0,1330 1 86939130 86939130 C T exonic CLCA1 nonsynonymous SNV CLCA1:NM_001285:exon2:c.C193T:p.L65F 0.88 0.67 0.93 0.99 0.95 0.95 0.9404 0.7262 0.9710 0.9873 0.8798 0.9647 0.9350 0.9551 0.88 0.73 0.96 0.9 0.97 rs2145412 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.182 P -3.57 0.000 N 3.16 0.077 T 5.64 0.000 N 0.049 0.278 -0.922 0.453 T 0.001 0.005 T . . . 0.874 0.177 9.915 0.158 0.004 0.013 0.046 N c -0.881 -0.560 0.008 0.115 0.487 0.133 0 5.56 0.836 2.518 0.450 0.154 0.240 0.999 0.424 0.992 0.562 6.799 0.228 . . . 0.9437 0.7210 0.9694 0.9615 0.9859 0.8825 0.9672 0.9473 0.9557 0.8879 0.7324 0.9582 0.9437 0.9852 0.8882 0.9601 0.9286 hom 2762.57 89 1 86939130 . C T 2762.57 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.42;MQ0=0;QD=31.04;VQSLOD=8.9178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2796,226,0 1 86947975 86947975 A T exonic CLCA1 synonymous SNV CLCA1:NM_001285:exon5:c.A645T:p.V215V 0.37 0.24 0.29 0.51 0.37 0.44 0.3709 0.2626 0.3511 0.4740 0.4151 0.3566 0.4053 0.4373 0.32 0.25 0.35 0.43 0.32 rs1321694 COSM3747094 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3740 0.2586 0.3478 0.3992 0.4730 0.4232 0.3515 0.3887 0.4394 0.3478 0.2583 0.3729 0.38 0.5056 0.4321 0.3578 0.3990 het 654.75 72 1 86947975 . A T 654.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.053;DP=72;Dels=0.00;FS=0.949;HRun=1;HaplotypeScore=1.4725;MQ=58.81;MQ0=0;MQRankSum=0.497;QD=9.09;ReadPosRankSum=0.615;VQSLOD=6.4119;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,25:72:99:685,0,1238 1 86952324 86952324 A G exonic CLCA1 nonsynonymous SNV CLCA1:NM_001285:exon7:c.A1070G:p.N357S 0.89 0.94 0.91 0.85 0.83 0.89 0.8629 0.9339 0.9176 0.8719 0.8638 0.8334 0.8601 0.8939 0.87 0.93 0.84 0.89 0.81 rs2734705 COSM3747095 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.513 N 1.000 0.090 P -0.945 0.013 N 2.78 0.113 T 1.31 0.009 N 0.015 0.002 -0.912 0.466 T 0.003 0.009 T . . . 0.530 0.145 7.654 0.310 0.017 0.032 0.081 N c -0.724 -0.455 0.998 0.364 0.487 0.133 0 4.58 0.559 0.380 0.202 0.076 0.183 0.995 0.385 0.998 0.697 2.310 0.039 von Willebrand factor\x2c type A . . 0.8640 0.9374 0.9113 0.8605 0.8644 0.8615 0.8327 0.8521 0.8945 0.8678 0.9321 0.9045 0.8642 0.8606 0.8552 0.8328 0.8566 het 2114.05 166 1 86952324 . A G 2114.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.284;DP=166;Dels=0.00;FS=1.255;HRun=0;HaplotypeScore=3.2906;MQ=59.21;MQ0=0;MQRankSum=1.993;QD=12.74;ReadPosRankSum=-0.351;VQSLOD=6.0664;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,76:166:99:2144,0,2386 1 86959173 86959173 T C exonic CLCA1 nonsynonymous SNV CLCA1:NM_001285:exon10:c.T1571C:p.M524T 0.85 0.78 0.88 0.91 0.82 0.9 0.8419 0.7769 0.9019 0.9213 0.8529 0.8170 0.8458 0.8950 0.8 0.77 0.82 0.77 0.84 rs2791494 COSM3747096 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.938 0.076 N 1 0.090 P -1.78 0.003 N 1.67 0.273 T 2.02 0.004 N 0.016 0.005 -0.952 0.407 T 0.006 0.019 T . . . -1.339 0.021 0.004 0.198 0.007 0.002 0.009 N c -1.478 -1.377 0.000 0.012 0.447 0.083 0 0.353 0.152 -1.569 0.022 -0.473 0.054 0.000 0.063 0.300 0.237 5.316 0.151 . . . 0.8456 0.7795 0.8961 0.8458 0.9145 0.8508 0.8145 0.8341 0.8955 0.8174 0.7742 0.8998 0.8709 0.9098 0.8496 0.8174 0.8459 het 1438.85 104 1 86959173 . T C 1438.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.319;DP=104;Dels=0.00;FS=1.572;HRun=0;HaplotypeScore=2.9230;MQ=59.33;MQ0=0;MQRankSum=0.686;QD=13.84;ReadPosRankSum=0.764;VQSLOD=6.5865;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,57:104:99:1469,0,1272 1 86961210 86961210 C T exonic CLCA1 synonymous SNV CLCA1:NM_001285:exon12:c.C1965T:p.D655D 0.019 0.0053 0.033 0.005 0.04 0.019 0.0258 0.0073 0.0214 0.0014 0.0133 0.0354 0.0254 0.0194 0.028 0.007 0.038 0.033 0.016 rs5744408 COSM3997689 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0262 0.0073 0.0218 0.0363 0.0015 0.0127 0.0371 0.0332 0.0199 0.0202 0.0088 0.0167 0.0132 0.0006 0.0103 0.0316 0.0184 het 1941.12 151 1 86961210 . C T 1941.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.612;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=0.423;QD=12.86;ReadPosRankSum=0.009;VQSLOD=6.3936;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,80:151:99:1971,0,1711 1 86965419 86965419 T C exonic CLCA1 synonymous SNV CLCA1:NM_001285:exon14:c.T2436C:p.T812T 0.35 0.28 0.23 0.54 0.26 0.43 0.2985 0.2720 0.2683 0.5561 0.2383 0.2558 0.3029 0.3975 0.26 0.27 0.26 0.33 0.3 rs1882753 COSM3751428 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2961 0.2644 0.2618 0.2384 0.5513 0.2473 0.2598 0.2667 0.3966 0.2884 0.2701 0.2721 0.2781 0.5582 0.2440 0.2803 0.3055 het 1484.81 125 1 86965419 . T C 1484.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.666;DP=125;Dels=0.00;FS=4.639;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=-1.686;QD=11.88;ReadPosRankSum=-1.824;VQSLOD=4.7472;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,58:125:99:1515,0,1804 1 89225976 89225976 T C exonic PKN2 synonymous SNV PKN2:NM_001320707:exon3:c.T421C:p.L141L,PKN2:NM_001320709:exon3:c.T421C:p.L141L,PKN2:NM_006256:exon3:c.T421C:p.L141L 0.75 0.93 0.58 0.65 0.66 0.83 0.6929 0.8941 0.6180 0.6425 0.7251 0.6497 0.7078 0.8134 0.72 0.89 0.64 0.81 0.6 rs430600 COSM3997691;COSM3997692 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6824 0.8963 0.6175 0.6744 0.6454 0.7266 0.6360 0.6746 0.8093 0.7159 0.8853 0.5993 0.6424 0.6416 0.7334 0.6305 0.6930 het 1551.27 130 1 89225976 . T C 1551.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.591;DP=130;Dels=0.00;FS=1.454;HRun=2;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;MQRankSum=0.826;QD=11.93;ReadPosRankSum=0.497;VQSLOD=6.3487;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,57:130:99:1581,0,1972 1 89271574 89271574 T C exonic PKN2 synonymous SNV PKN2:NM_001320707:exon11:c.T1533C:p.S511S,PKN2:NM_001320708:exon11:c.T1206C:p.S402S,PKN2:NM_001320709:exon12:c.T1629C:p.S543S,PKN2:NM_006256:exon12:c.T1677C:p.S559S 0.51 0.36 0.49 0.47 0.57 0.72 0.5640 0.3832 0.5147 0.4609 0.6298 0.5735 0.5911 0.6928 0.51 0.41 0.56 0.54 0.51 rs786906 COSM5438329 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5609 0.3775 0.5158 0.5971 0.4659 0.6327 0.5601 0.5832 0.6894 0.5101 0.3797 0.4916 0.5894 0.4701 0.6443 0.5524 0.6041 het 1334.51 104 1 89271574 . T C 1334.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.200;DP=104;Dels=0.00;FS=0.798;HRun=0;HaplotypeScore=4.8498;MQ=57.72;MQ0=0;MQRankSum=1.194;QD=12.83;ReadPosRankSum=-0.075;VQSLOD=4.9892;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,54:104:99:1365,0,1090 1 89322982 89322982 G A exonic GTF2B synonymous SNV GTF2B:NM_001514:exon6:c.C724T:p.L242L 0.99 0.95 1. 1. 1. 1. 0.9954 0.9492 0.9985 0.9999 1 1.0000 0.9978 0.9999 0.98 0.95 1. 0.97 0.98 rs2794318 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9484 0.9978 1 0.9999 1 0.9999 0.9987 0.9999 0.9851 0.9480 0.9964 1 1 1 0.9999 0.9969 hom 3021.12 92 1 89322982 . G A 3021.12 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.84;VQSLOD=13.8514;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3054,250,0 1 89426902 89426902 G A exonic KYAT3 synonymous SNV KYAT3:NM_001008662:exon7:c.C633T:p.S211S,KYAT3:NM_001008661:exon8:c.C735T:p.S245S,KYAT3:NM_001349447:exon8:c.C633T:p.S211S,KYAT3:NM_001349449:exon8:c.C243T:p.S81S,KYAT3:NM_001349448:exon9:c.C735T:p.S245S,KYAT3:NM_001349450:exon9:c.C243T:p.S81S 0.37 0.23 0.5 0.46 0.48 0.25 0.4373 0.2742 0.4878 0.4491 0.4486 0.4812 0.4492 0.3155 0.42 0.29 0.49 0.36 0.43 rs3738055 COSM146554 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4432 0.2699 0.4829 0.4031 0.4451 0.4472 0.4912 0.4554 0.3184 0.4272 0.2767 0.5120 0.4040 0.4208 0.4335 0.5088 0.4398 het 2268.10 173 1 89426902 . G A 2268.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.667;DP=173;Dels=0.00;FS=1.967;HRun=0;HaplotypeScore=1.8490;MQ=59.55;MQ0=0;MQRankSum=-0.851;QD=13.11;ReadPosRankSum=0.156;VQSLOD=6.6066;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,88:173:99:2298,0,2093 1 89474818 89474818 A G exonic GBP3 nonsynonymous SNV GBP3:NM_001319180:exon10:c.T1069C:p.C357R,GBP3:NM_001319181:exon10:c.T1390C:p.C464R,GBP3:NM_018284:exon10:c.T1471C:p.C491R,GBP3:NM_001319179:exon11:c.T1234C:p.C412R 0.26 0.26 0.26 0.21 0.32 0.25 0.2829 0.2630 0.2135 0.1990 0.2275 0.3200 0.2949 0.2595 0.3 0.26 0.32 0.27 0.25 rs17433780 COSM3751431 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.046 0.235 N 1 0.090 P -3.065 0.000 N 4.7 0.017 T 4.84 0.000 N 0.059 0.308 -1.046 0.154 T 0.000 0.001 T . . . -1.792 0.011 0.002 0.111 0.002 0.002 0.014 N c -1.809 -1.672 0.003 0.101 0.563 0.310 0 1.68 0.231 0.450 0.213 -0.305 0.080 0.023 0.197 0.000 0.016 5.974 0.185 Guanylate-binding protein\x2c C-terminal ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.2815 0.2646 0.2240 0.3662 0.2015 0.2361 0.3216 0.2974 0.2551 0.2789 0.2722 0.2560 0.4007 0.1950 0.2194 0.3043 0.2822 hom 2488.52 77 1 89474818 . A G 2488.52 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.11;MQ0=0;QD=32.32;VQSLOD=8.8035;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2522,202,0 1 89475135 89475135 C T exonic GBP3 nonsynonymous SNV GBP3:NM_001319180:exon9:c.G1003A:p.V335M,GBP3:NM_001319181:exon9:c.G1324A:p.V442M,GBP3:NM_018284:exon9:c.G1405A:p.V469M,GBP3:NM_001319179:exon10:c.G1168A:p.V390M 0.2 0.044 0.24 0.2 0.32 0.25 0.2641 0.0799 0.2060 0.1892 0.2269 0.3179 0.2881 0.2565 0.24 0.084 0.32 0.22 0.27 rs10493821 COSM3751432 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.267 0.162 T 0.073 0.248 B 0.119 0.310 B 0.787 0.067 N 1 0.090 P 1.22 0.307 L 4.25 0.026 T -1.26 0.318 N 0.069 0.327 -0.918 0.458 T 0.003 0.011 T . . . -0.084 0.086 1.855 0.815 0.133 0.043 0.098 N c -1.165 -1.247 0.011 0.122 0.615 0.372 0 -1.05 0.095 -0.763 0.048 -2.116 0.004 0.000 0.063 0.000 0.016 8.276 0.309 Guanylate-binding protein\x2c C-terminal ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.2678 0.0799 0.2160 0.3659 0.1925 0.2360 0.3211 0.2908 0.2544 0.2254 0.0871 0.2410 0.4007 0.1879 0.2198 0.3041 0.2688 hom 4910.28 178 1 89475135 . C T 4910.28 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8192;MQ=53.05;MQ0=0;QD=27.59;VQSLOD=3.8730;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:4909,379,0 1 89522646 89522646 G C exonic GBP1 nonsynonymous SNV GBP1:NM_002053:exon7:c.C1046G:p.T349S 0.72 0.8 0.61 0.56 0.77 0.8 0.7451 0.8073 0.5680 0.5705 0.7539 0.7794 0.7456 0.7790 0.79 0.81 0.78 0.62 0.77 rs1048425 COSM1344744 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.091 0.318 T 0.254 0.295 B 0.438 0.438 B 0.000 0.629 N 1.000 0.189 P 3.165 0.888 M 3.92 0.035 T -3.6 0.693 D 0.054 0.047 -1.185 0.003 T 0.020 0.084 T . . . 1.339 0.225 12.47 0.972 0.324 0.508 0.285 D c -0.131 -0.154 0.756 0.234 0.707 0.730 0 3.89 0.439 2.569 0.454 -0.400 0.062 0.624 0.277 0.507 0.272 12.960 0.577 Guanylate-binding protein\x2c C-terminal ENSG00000213512.1|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Thyroid 0.7390 0.8089 0.5795 0.7735 0.5793 0.7587 0.7841 0.7426 0.7776 0.7708 0.8019 0.5835 0.7815 0.5800 0.7506 0.7892 0.7541 hom 5354.60 158 1 89522646 . G C 5354.60 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9810;MQ=58.67;MQ0=0;QD=33.89;VQSLOD=8.9360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5354,418,0 1 89847372 89847372 G T exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon5:c.G601T:p.A201S,GBP6:NM_198460:exon7:c.G991T:p.A331S 0.81 0.91 0.84 0.73 0.75 0.78 0.7769 0.8854 0.8667 0.7494 0.8140 0.7390 0.7896 0.7974 0.79 0.88 0.75 0.79 0.7 rs4658359 . . . . . . . . . . . . . 0.087 0.324 T 0.835 0.443 P 0.612 0.493 P 0.288 0.148 N 1 0.090 P 2.525 0.740 M 4.39 0.023 T -2.2 0.495 N 0.049 0.058 -0.897 0.483 T 0.005 0.015 T . . . 1.627 0.257 14.00 0.986 0.433 0.076 0.134 N c -0.373 -0.547 0.561 0.214 0.516 0.203 0 -0.023 0.132 -0.240 0.089 0.729 0.305 0.000 0.063 0.040 0.157 3.352 0.067 Guanylate-binding protein\x2c C-terminal ENSG00000171492.10|ENSG00000197147.8|ENSG00000197147.8 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7791 0.8880 0.8575 0.7478 0.7445 0.8085 0.7378 0.7753 0.7974 0.7972 0.8770 0.8353 0.7417 0.7395 0.8131 0.7531 0.7841 het 1075.62 96 1 89847372 . G T 1075.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.783;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6264;MQ=58.79;MQ0=0;MQRankSum=0.898;QD=11.20;ReadPosRankSum=-1.349;VQSLOD=5.8619;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,41:96:99:1106,0,1512 1 89847411 89847411 C T exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon5:c.C640T:p.L214F,GBP6:NM_198460:exon7:c.C1030T:p.L344F 0.81 0.91 0.84 0.73 0.75 0.78 0.7771 0.8855 0.8665 0.7501 0.8140 0.7394 0.7896 0.7975 0.79 0.88 0.75 0.71 0.7 rs4658360 COSM4144234 1(thyroid) . . . . . . . . . . . 0.272 0.159 T 0.01 0.144 B 0.025 0.193 B 0.790 0.094 N 1 0.090 P 0.99 0.251 L 4.31 0.024 T -1.36 0.338 N 0.009 0.004 -0.902 0.478 T 0.003 0.008 T . . . -2.187 0.006 0.001 0.426 0.031 0.011 0.040 N c -2.381 -2.494 1.000 0.747 0.549 0.223 0 -9.49 0.005 -2.821 0.008 -2.855 0.002 0.000 0.063 0.278 0.233 20.088 0.978 Guanylate-binding protein\x2c C-terminal ENSG00000171492.10|ENSG00000197147.8|ENSG00000197147.8 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7792 0.8881 0.8575 0.7477 0.7443 0.8086 0.7381 0.7751 0.7975 0.7975 0.8769 0.8361 0.7417 0.7395 0.8139 0.7535 0.7847 het 1407.26 103 1 89847411 . C T 1407.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.592;DP=103;Dels=0.00;FS=3.654;HRun=1;HaplotypeScore=3.5220;MQ=59.19;MQ0=0;MQRankSum=-1.276;QD=13.66;ReadPosRankSum=-0.577;VQSLOD=5.3409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,52:103:99:1437,0,1448 1 89847444 89847444 A G exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon5:c.A673G:p.M225V,GBP6:NM_198460:exon7:c.A1063G:p.M355V 0.81 0.91 0.84 0.73 0.75 0.78 0.7771 0.8855 0.8665 0.7497 0.8137 0.7394 0.7914 0.7970 0.79 0.88 0.75 0.67 0.71 rs4658146 . . . . . . . . . . . . . 0.952 0.021 T 0.0 0.026 B 0.0 0.013 B 0.390 0.133 N 1 0.090 P -1.73 0.003 N 4.67 0.018 T 1.33 0.009 N 0.003 0.003 -1.015 0.254 T 0.000 0.001 T . . . -2.446 0.004 0.001 0.304 0.017 0.011 0.040 N c -2.256 -2.166 0.957 0.282 0.526 0.212 0 -4.25 0.035 -4.032 0.003 -3.538 0.001 0.000 0.063 0.008 0.104 3.178 0.061 Guanylate-binding protein\x2c C-terminal ENSG00000171492.10|ENSG00000197147.8|ENSG00000197147.8 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7792 0.8881 0.8575 0.7478 0.7441 0.8086 0.7383 0.7752 0.7971 0.7974 0.8771 0.8361 0.7417 0.7392 0.8139 0.7533 0.7851 het 1478.86 123 1 89847444 . A G 1478.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.130;DP=123;Dels=0.00;FS=8.952;HRun=0;HaplotypeScore=4.8889;MQ=59.16;MQ0=0;MQRankSum=-0.461;QD=12.02;ReadPosRankSum=1.501;VQSLOD=4.3530;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,59:123:99:1509,0,1712 1 89849742 89849742 A T exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon8:c.A1169T:p.D390V,GBP6:NM_198460:exon10:c.A1559T:p.D520V 0.86 0.92 0.92 0.73 0.89 0.85 0.8828 0.9083 0.9180 0.7505 0.9090 0.8900 0.9031 0.8706 0.9 0.91 0.89 0.84 0.86 rs959460 . . . . . . . . . . . . . 0.035 0.437 D 0.011 0.147 B 0.063 0.256 B 0.680 0.061 N 1 0.090 P 0.755 0.192 N 0.52 0.553 T -2.92 0.611 D 0.036 0.092 -1.036 0.187 T 0.054 0.227 T . . . 1.518 0.245 13.41 0.960 0.277 0.100 0.154 N c -0.678 -0.660 0.003 0.097 0.549 0.223 0 3.74 0.419 4.031 0.567 0.825 0.337 0.070 0.219 0.014 0.122 7.581 0.270 Guanylate-binding protein\x2c C-terminal ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2 Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Nerve_Tibial|Ovary|Thyroid|Uterus 0.8848 0.9093 0.9132 0.9301 0.7450 0.9056 0.8891 0.8976 0.8721 0.8903 0.9029 0.8974 0.9205 0.7420 0.9114 0.8929 0.8929 hom 2669.14 89 1 89849742 . A T 2669.14 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.37;MQ0=0;QD=29.99;VQSLOD=9.1653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2702,211,0 1 90049040 90049040 A G exonic LRRC8B synonymous SNV LRRC8B:NM_015350:exon5:c.A831G:p.P277P,LRRC8B:NM_001134476:exon7:c.A831G:p.P277P 0.16 0.034 0.12 0.17 0.21 0.3 0.2344 0.0711 0.1089 0.1986 0.2851 0.2551 0.2511 0.3393 0.2 0.077 0.26 0.15 0.24 rs36084789 COSM3751443 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2313 0.0687 0.1031 0.3142 0.1960 0.2922 0.2491 0.2426 0.3355 0.1999 0.0681 0.1205 0.3212 0.2058 0.3022 0.2489 0.2790 hom 4704.61 159 1 90049040 . A G 4704.61 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6653;MQ=59.57;MQ0=0;QD=29.59;VQSLOD=7.8977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4704,391,0 1 90178743 90178743 A G exonic LRRC8C nonsynonymous SNV LRRC8C:NM_032270:exon3:c.A614G:p.D205G 0.99 0.95 0.99 1. 1. 1. 0.9952 0.9487 0.9971 1 1 0.9999 0.9978 0.9999 0.98 0.95 1. 0.99 1. rs474536 . . . . . . . . . . . . . 0.536 0.069 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.186 P -1.245 0.008 N 1.88 0.239 T 0.18 0.050 N 0.058 0.298 -0.990 0.326 T 0.007 0.025 T . . . 1.673 0.262 14.26 0.899 0.187 0.294 0.236 N c -0.613 -0.299 0.998 0.360 0.722 0.854 0 4.84 0.620 3.339 0.516 0.138 0.222 1.000 0.715 0.999 0.750 14.015 0.639 LRRC8\x2c pannexin-like TM region . . 0.9962 0.9474 0.9969 1 1 1 0.9999 0.9976 0.9999 0.9871 0.9545 0.9988 1 1 1 0.9999 0.9990 hom 2915.54 92 1 90178743 . A G 2915.54 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.42;MQ0=0;QD=31.69;VQSLOD=8.8220;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2949,226,0 1 90486412 90486412 T G exonic ZNF326 synonymous SNV ZNF326:NM_181781:exon8:c.T618G:p.V206V,ZNF326:NM_001320185:exon10:c.T969G:p.V323V,ZNF326:NM_182976:exon10:c.T1236G:p.V412V 0.69 0.66 0.72 0.89 0.57 0.63 0.6211 0.6512 0.7656 0.9027 0.6178 0.5614 0.6278 0.5954 0.59 0.66 0.56 0.64 0.59 rs2816881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6290 0.6565 0.7563 0.5745 0.9007 0.6132 0.5628 0.6183 0.5947 0.6197 0.6596 0.7326 0.6060 0.8847 0.6218 0.5611 0.6232 hom 2835.85 85 1 90486412 . T G 2835.85 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.41;MQ0=0;QD=33.36;VQSLOD=9.6530;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2869,226,0 1 91404256 91404256 C A exonic ZNF644 nonsynonymous SNV ZNF644:NM_201269:exon3:c.G2655T:p.E885D 0.01 0.0008 0.017 . 0.033 0.0051 0.0222 0.0061 0.0058 0 0.0463 0.0327 0.0221 0.0033 0.023 0.0077 0.031 0.011 . rs41286761 . . . . . . . . . . . . . 0.121 0.277 T 0.0 0.026 B 0.001 0.040 B 0.000 0.523 N 0.878 0.810 D 0.625 0.159 N 6.29 0.006 T -0.41 0.140 N 0.049 0.030 -0.885 0.494 T 0.001 0.002 T . . . 1.137 0.203 11.41 0.959 0.274 0.335 0.246 N c -0.779 -0.666 0.330 0.195 0.732 0.924 0 0.468 0.159 -0.539 0.062 0.115 0.208 0.585 0.274 1.000 0.888 1.121 0.016 . . . 0.0223 0.0048 0.0068 0.0179 0 0.0490 0.0334 0.0191 0.0031 0.0237 0.0055 0.0144 0.0166 0 0.0464 0.0322 0.0234 het 792.89 66 1 91404256 . C A 792.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.842;DP=66;Dels=0.00;FS=0.954;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;MQRankSum=0.712;QD=12.01;ReadPosRankSum=0.853;VQSLOD=6.2202;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,32:66:99:823,0,839 1 91728053 91728053 G A exonic HFM1 synonymous SNV HFM1:NM_001017975:exon37:c.C4071T:p.A1357A 1. 1. 1. 1. 1. 1. 0.9997 0.9968 0.9998 1 1 1.0000 1 1 1. 1. 1. 1. 0.98 rs585898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9966 0.9998 1 1 1 1.0000 1 1 0.9987 0.9954 1 1 1 1 1 1 hom 3880.83 127 1 91728053 . G A 3880.83 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=58.07;MQ0=0;QD=30.56;VQSLOD=8.0246;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3881,295,0 1 91781413 91781413 T G exonic HFM1 synonymous SNV HFM1:NM_001017975:exon28:c.A3099C:p.I1033I 0.76 0.75 0.72 0.82 0.69 0.82 0.7059 0.7463 0.6921 0.8425 0.6978 0.6616 0.7251 0.7990 0.69 0.73 0.67 0.73 0.53 rs281992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7060 0.7447 0.6931 0.7816 0.8357 0.6934 0.6542 0.7141 0.7984 0.6920 0.7378 0.7105 0.8212 0.8246 0.6821 0.6500 0.6875 het 1395.94 99 1 91781413 . T G 1395.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.823;DP=99;Dels=0.00;FS=1.684;HRun=0;HaplotypeScore=0.0000;MQ=57.53;MQ0=1;MQRankSum=0.511;QD=14.10;ReadPosRankSum=-0.563;VQSLOD=4.8202;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,59:99:99:1426,0,1046 1 91782031 91782031 T C exonic HFM1 nonsynonymous SNV HFM1:NM_001017975:exon26:c.A2815G:p.I939V 0.12 0.12 0.16 0.005 0.23 0.12 0.1998 0.1340 0.1433 0.0017 0.2041 0.2624 0.1887 0.1297 0.22 0.14 0.26 0.14 0.18 rs11584478 COSM3747106 1(liver) . . . . . . . . . . . 0.812 0.030 T 0.001 0.139 B 0.007 0.154 B 0.004 0.347 N 0.933 0.270 P -0.845 0.015 N 0.22 0.599 T 0.27 0.043 N 0.01 0.021 -1.046 0.155 T 0.029 0.122 T . . . 0.386 0.131 6.488 0.692 0.086 0.683 0.335 D c -0.571 -0.385 0.000 0.012 0.554 0.246 0 1.31 0.207 2.628 0.459 0.964 0.580 1.000 0.715 1.000 0.888 6.864 0.231 Sec63 domain . . 0.2133 0.1422 0.1750 0.1755 0.0019 0.2123 0.2777 0.2315 0.1405 0.2027 0.1345 0.1638 0.1258 0.0031 0.2173 0.2633 0.2174 het 1515.68 117 1 91782031 . T C 1515.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.966;DP=117;Dels=0.00;FS=1.662;HRun=0;HaplotypeScore=3.3691;MQ=58.38;MQ0=0;MQRankSum=-0.358;QD=12.95;ReadPosRankSum=0.713;VQSLOD=5.6770;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,62:117:99:1546,0,1302 1 91784887 91784887 G A exonic HFM1 synonymous SNV HFM1:NM_001017975:exon24:c.C2643T:p.T881T 0.24 0.25 0.28 0.18 0.31 0.18 0.2951 0.2521 0.3082 0.1577 0.3019 0.3402 0.2759 0.2006 0.31 0.27 0.33 0.27 0.39 rs10493845 COSM146559 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2948 0.2519 0.3075 0.2393 0.1637 0.3063 0.3459 0.2878 0.2017 0.3070 0.2576 0.2895 0.1921 0.1743 0.3188 0.3504 0.3108 het 930.92 94 1 91784887 . G A 930.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.867;DP=94;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=3.7437;MQ=58.30;MQ0=0;MQRankSum=1.092;QD=9.90;ReadPosRankSum=-0.351;VQSLOD=5.6041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,42:94:99:961,0,1208 1 91851253 91851253 T C exonic HFM1 synonymous SNV HFM1:NM_001017975:exon5:c.A633G:p.Q211Q 1. 1. 1. 1. 1. 1. 0.9997 0.9968 0.9998 1 1 1 1 1 1. 1. 1. 1. 0.9 rs282026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9965 0.9998 1 1 1 1 1 1.0000 0.9987 0.9955 1 1 1 1 1 1 hom 2250.44 74 1 91851253 . T C 2250.44 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7219;MQ=58.35;MQ0=0;QD=30.41;VQSLOD=7.7921;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2283,175,0 1 91859795 91859795 T C exonic HFM1 nonsynonymous SNV HFM1:NM_001017975:exon4:c.A349G:p.I117V 1. 1. 1. 1. 1. 1. 0.9997 0.9969 0.9998 1 1 1 1 1 1. 1. 1. 1. 0.97 rs282009 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.24 0.001 N 0.49 0.558 T 0.16 0.052 N 0.05 0.031 -0.972 0.367 T 0.015 0.058 T . . . -2.189 0.006 0.001 0.170 0.005 0.001 0.007 N c -1.539 -1.441 0.000 0.012 0.554 0.283 0 1.52 0.221 -0.084 0.111 0.039 0.154 0.000 0.063 0.304 0.238 6.966 0.236 . . . 0.9998 0.9967 0.9998 1 1 1 1 1 1 0.9987 0.9954 1 1 1 1 1 1 hom 2702.83 83 1 91859795 . T C 2702.83 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=32.56;VQSLOD=9.9187;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2736,208,0 1 91859801 91859801 A G exonic HFM1 nonsynonymous SNV HFM1:NM_001017975:exon4:c.T343C:p.S115P 0.14 0.16 0.16 0.005 0.24 0.12 0.2034 0.1703 0.1452 0.0017 0.2047 0.2632 0.1905 0.1288 0.23 0.18 0.26 0.15 0.23 rs11165778 COSM3747107 1(pancreas);1(liver) . . . . . . . . . . . 0.29 0.150 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.04 0.263 L 0.26 0.593 T -0.2 0.309 N 0.346 0.407 -1.053 0.137 T 0.038 0.162 T . . . -0.473 0.057 0.256 0.663 0.078 0.007 0.029 N c -1.347 -1.382 0.000 0.012 0.554 0.283 0 -2.82 0.054 -0.436 0.069 -0.185 0.104 0.000 0.063 0.237 0.225 9.867 0.401 . . . 0.1986 0.1737 0.1467 0.1593 0.0016 0.2103 0.2685 0.2103 0.1268 0.2155 0.1737 0.1663 0.1258 0.0031 0.2203 0.2659 0.2223 het 708.36 83 1 91859801 . A G 708.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.415;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-1.050;QD=8.53;ReadPosRankSum=-0.240;VQSLOD=5.6894;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,31:83:99:738,0,1413 1 91980447 91980447 A G exonic CDC7 synonymous SNV CDC7:NM_001134419:exon9:c.A990G:p.T330T,CDC7:NM_001134420:exon9:c.A990G:p.T330T,CDC7:NM_003503:exon9:c.A990G:p.T330T 0.77 0.78 0.78 0.76 0.79 0.72 0.7773 0.7855 0.8280 0.7572 0.7461 0.7779 0.7621 0.7584 0.78 0.77 0.78 0.85 0.8 rs483532 COSM3747108 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7796 0.7868 0.8214 0.8444 0.7569 0.7488 0.7760 0.7813 0.7574 0.7786 0.7848 0.8043 0.8676 0.7763 0.7466 0.7808 0.7577 hom 1985.41 72 1 91980447 . A G 1985.41 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=27.58;VQSLOD=8.3316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2018,165,0 1 92174260 92174260 A G exonic TGFBR3 synonymous SNV TGFBR3:NM_001195683:exon14:c.T2244C:p.T748T,TGFBR3:NM_003243:exon14:c.T2247C:p.T749T,TGFBR3:NM_001195684:exon15:c.T2244C:p.T748T 0.91 0.94 0.97 0.74 0.94 0.95 0.9337 0.9379 0.9710 0.7731 0.9716 0.9395 0.9361 0.9504 0.94 0.94 0.94 0.95 0.86 rs284878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9338 0.9380 0.9661 0.9040 0.7653 0.9708 0.9406 0.9433 0.9474 0.9356 0.9334 0.9582 0.9007 0.7531 0.9699 0.9472 0.9491 hom 4545.67 140 1 92174260 . A G 4545.67 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8857;MQ=59.67;MQ0=0;QD=32.47;VQSLOD=9.5462;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4545,352,0 1 92177938 92177938 A G exonic TGFBR3 synonymous SNV TGFBR3:NM_001195683:exon13:c.T2025C:p.F675F,TGFBR3:NM_003243:exon13:c.T2028C:p.F676F,TGFBR3:NM_001195684:exon14:c.T2025C:p.F675F 0.28 0.31 0.29 0.086 0.43 0.28 0.3660 0.3400 0.2796 0.1070 0.3618 0.4402 0.3234 0.2829 0.4 0.34 0.44 0.35 0.39 rs1805113 COSM3747109 1(breast);3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3604 0.3356 0.2868 0.3410 0.1045 0.3587 0.4463 0.3876 0.2880 0.3765 0.3425 0.2876 0.4040 0.0912 0.3693 0.4324 0.3910 het 2291.80 160 1 92177938 . A G 2291.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.355;DP=160;Dels=0.00;FS=11.356;HRun=2;HaplotypeScore=5.1173;MQ=59.62;MQ0=0;MQRankSum=-1.257;QD=14.32;ReadPosRankSum=0.718;VQSLOD=3.8540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,89:160:99:2322,0,1863 1 92185657 92185657 C T exonic TGFBR3 synonymous SNV TGFBR3:NM_001195683:exon9:c.G1203A:p.P401P,TGFBR3:NM_003243:exon9:c.G1206A:p.P402P,TGFBR3:NM_001195684:exon10:c.G1203A:p.P401P 0.41 0.28 0.28 0.53 0.46 0.48 0.4177 0.3071 0.2673 0.5325 0.4836 0.4373 0.4207 0.4268 0.38 0.32 0.41 0.41 0.39 rs1805112 COSM3997703 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4139 0.3041 0.2682 0.4309 0.5458 0.4842 0.4308 0.4274 0.4339 0.4029 0.3062 0.3062 0.4272 0.5458 0.4860 0.4281 0.4192 hom 2723 81 1 92185657 . C T 2723 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2741;MQ=59.69;MQ0=0;QD=33.62;VQSLOD=7.7241;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,80:81:99:2756,223,0 1 92262874 92262874 T C exonic TGFBR3 synonymous SNV TGFBR3:NM_001195683:exon3:c.A216G:p.A72A,TGFBR3:NM_003243:exon3:c.A216G:p.A72A,TGFBR3:NM_001195684:exon4:c.A216G:p.A72A 0.72 0.78 0.72 0.77 0.63 0.66 0.6631 0.7551 0.6346 0.7921 0.6061 0.6386 0.6817 0.6782 0.68 0.75 0.64 0.67 0.63 rs2810904 COSM3751453 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6593 0.7556 0.6440 0.6309 0.7837 0.6039 0.6396 0.6473 0.6817 0.6616 0.7388 0.6730 0.5867 0.7667 0.5975 0.6226 0.6375 het 2541.92 208 1 92262874 . T C 2541.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.393;DP=208;DS;Dels=0.00;FS=1.100;HRun=2;HaplotypeScore=8.3955;MQ=59.31;MQ0=0;MQRankSum=0.204;QD=12.22;ReadPosRankSum=-0.585;VQSLOD=4.3846;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,101:208:99:2572,0,3071 1 92327045 92327045 G A exonic TGFBR3 nonsynonymous SNV TGFBR3:NM_001195683:exon2:c.C44T:p.S15F,TGFBR3:NM_003243:exon2:c.C44T:p.S15F,TGFBR3:NM_001195684:exon3:c.C44T:p.S15F 0.19 0.18 0.14 0.37 0.085 0.15 0.1308 0.1865 0.1201 0.4008 0.1152 0.0898 0.1322 0.1335 0.12 0.17 0.085 0.26 0.12 rs1805110 COSM146560 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.166 0.231 T 0.4 0.330 B 0.181 0.342 B 0.368 0.136 N 0.575 0.311 P 1.24 0.311 L 1.47 0.481 T -0.25 0.839 N 0.199 0.496 -1.065 0.105 T 0.027 0.116 T . . . 0.927 0.182 10.24 0.933 0.224 0.642 0.321 D c -0.354 -0.206 1.000 0.462 0.638 0.428 0 3.18 0.355 1.652 0.367 1.027 0.646 1.000 0.715 0.841 0.351 6.015 0.187 . . . 0.1307 0.1868 0.1257 0.1306 0.3976 0.1132 0.0862 0.1089 0.1363 0.1310 0.1777 0.1337 0.1258 0.3813 0.1105 0.0827 0.1130 het 1242.28 105 1 92327045 . G A 1242.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.334;DP=105;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=1.7883;MQ=59.60;MQ0=0;MQRankSum=0.978;QD=11.83;ReadPosRankSum=1.062;VQSLOD=6.5996;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,50:105:99:1272,0,1505 1 92428495 92428495 C A exonic BRDT nonsynonymous SNV BRDT:NM_001242806:exon2:c.C184A:p.Q62K,BRDT:NM_001242807:exon2:c.C184A:p.Q62K,BRDT:NM_001242808:exon2:c.C184A:p.Q62K,BRDT:NM_001726:exon2:c.C184A:p.Q62K,BRDT:NM_207189:exon2:c.C184A:p.Q62K,BRDT:NM_001242805:exon3:c.C184A:p.Q62K 0.76 0.66 0.84 0.61 0.92 0.81 0.8763 0.6939 0.8910 0.6033 0.9524 0.9374 0.8906 0.8452 0.86 0.7 0.94 0.79 0.88 rs10783071 COSM4417547 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.582 0.170 T 0.0 0.026 B 0.0 0.013 B 0.015 0.284 N 1 0.090 P 0.52 0.136 N 1.58 0.291 T 0.72 0.026 N 0.029 0.157 -0.952 0.407 T 0.013 0.050 T . . . 0.761 0.167 9.222 0.831 0.141 0.011 0.039 N c -1.025 -0.930 0.030 0.139 0.487 0.133 0 2.25 0.272 1.215 0.318 0.234 0.260 0.070 0.219 0.998 0.697 6.707 0.223 Bromodomain;Bromodomain|Bromodomain\x2c conserved site . . 0.8801 0.6912 0.8838 0.9320 0.5983 0.9542 0.9368 0.9047 0.8400 0.8523 0.6908 0.8687 0.9404 0.6009 0.9579 0.9425 0.9031 hom 3703.66 125 1 92428495 . C A 3703.66 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9117;MQ=58.91;MQ0=0;QD=29.63;VQSLOD=8.6791;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3703,280,0 1 92445257 92445257 C G exonic BRDT nonsynonymous SNV BRDT:NM_001242807:exon7:c.C1092G:p.N364K,BRDT:NM_001242808:exon7:c.C1092G:p.N364K,BRDT:NM_001242806:exon8:c.C1242G:p.N414K,BRDT:NM_001242810:exon8:c.C1011G:p.N337K,BRDT:NM_001726:exon8:c.C1230G:p.N410K,BRDT:NM_207189:exon8:c.C1230G:p.N410K,BRDT:NM_001242805:exon9:c.C1230G:p.N410K 0.13 0.024 0.24 0.028 0.22 0.21 0.2111 0.0512 0.2354 0.0220 0.2504 0.2511 0.2346 0.2154 0.18 0.059 0.25 0.11 0.33 rs3088232 COSM3751454 1(large_intestine) . . . . . . . . . . . 0.276 0.252 T 0.003 0.154 B 0.002 0.121 B 0.891 0.087 N 0.924 0.280 P 1.05 0.269 L 3.31 0.092 T -1.45 0.356 N 0.028 0.104 -0.935 0.434 T 0.007 0.024 T . . . 1.442 0.236 13.01 0.979 0.359 0.265 0.228 N c -0.604 -0.526 0.017 0.129 0.487 0.133 0 3.76 0.422 0.219 0.173 0.935 0.490 0.066 0.217 0.769 0.327 2.525 0.044 Bromodomain;Bromodomain|Bromodomain\x2c conserved site . . 0.2130 0.0463 0.2239 0.2526 0.0225 0.2539 0.2501 0.2199 0.2128 0.1823 0.0545 0.2339 0.2450 0.0228 0.2490 0.2512 0.2290 het 1384.66 118 1 92445257 . C G 1384.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.175;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5256;MQ=58.89;MQ0=0;MQRankSum=2.556;QD=11.73;ReadPosRankSum=-0.347;VQSLOD=3.5387;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,53:118:99:1415,0,1591 1 92457843 92457843 C T exonic BRDT nonsynonymous SNV BRDT:NM_001242807:exon13:c.C1949T:p.P650L,BRDT:NM_001242808:exon13:c.C1949T:p.P650L,BRDT:NM_001242806:exon14:c.C2099T:p.P700L,BRDT:NM_001242810:exon14:c.C1868T:p.P623L,BRDT:NM_001726:exon14:c.C2087T:p.P696L,BRDT:NM_207189:exon14:c.C2087T:p.P696L,BRDT:NM_001242805:exon15:c.C2087T:p.P696L 0.71 0.59 0.77 0.61 0.84 0.79 0.8166 0.6356 0.8512 0.6111 0.9006 0.8549 0.8300 0.8223 0.78 0.63 0.86 0.75 0.62 rs10747493 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.442 0.048 N 1 0.090 P -0.805 0.016 N 3.33 0.062 T -0.34 0.127 N 0.041 0.092 -0.913 0.465 T 0.003 0.008 T . . . -0.359 0.064 0.485 0.150 0.004 0.001 0.006 N c -1.444 -1.470 0.000 0.012 0.487 0.133 0 0.031 0.134 -0.926 0.041 -0.134 0.110 0.000 0.063 0.001 0.043 2.431 0.042 . ENSG00000154511.7|ENSG00000154511.7|ENSG00000067208.10|ENSG00000137948.14 Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis 0.8160 0.6087 0.8258 0.8812 0.5809 0.9027 0.8472 0.8258 0.8104 0.7847 0.6200 0.8130 0.9033 0.6055 0.9092 0.8644 0.8461 hom 1260.03 45 1 92457843 . C T 1260.03 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.18;MQ0=0;QD=28.00;VQSLOD=7.8211;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:96.30:1293,96,0 1 92979354 92979354 A G exonic EVI5 synonymous SNV EVI5:NM_005665:exon18:c.T2292C:p.G764G,EVI5:NM_001308248:exon19:c.T2325C:p.G775G,EVI5:NM_001350197:exon20:c.T2340C:p.G780G 0.92 0.95 0.89 0.98 0.81 0.96 0.8520 0.9295 0.9175 0.9633 0.7755 0.7973 0.8590 0.9501 0.84 0.92 0.79 0.88 0.79 rs6603979 COSM4144254;COSM4144255 1(thyroid) Benign not_specified RCV000454845.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8537 0.9283 0.9124 0.8817 0.9645 0.7773 0.7955 0.8398 0.9503 0.8528 0.9275 0.9067 0.9139 0.9654 0.7821 0.8104 0.8351 hom 4659.92 142 1 92979354 . A G 4659.92 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=59.15;MQ0=0;QD=32.82;VQSLOD=9.9159;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4660,361,0 1 93089823 93089823 T C exonic EVI5 synonymous SNV EVI5:NM_005665:exon14:c.A1689G:p.Q563Q,EVI5:NM_001308248:exon15:c.A1722G:p.Q574Q,EVI5:NM_001350197:exon16:c.A1737G:p.Q579Q,EVI5:NM_001350198:exon16:c.A1737G:p.Q579Q 0.95 0.96 0.94 0.98 0.9 0.97 0.9216 0.9452 0.9564 0.9635 0.8810 0.8988 0.9349 0.9679 0.91 0.94 0.9 0.95 0.91 rs7514716 . . Benign not_specified RCV000454596.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9236 0.9431 0.9550 0.9526 0.9647 0.8854 0.8982 0.9186 0.9681 0.9170 0.9435 0.9604 0.9702 0.9661 0.8840 0.9008 0.9122 hom 5389.96 159 1 93089823 . T C 5389.96 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=33.90;VQSLOD=9.8432;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5390,412,0 1 93160902 93160902 T C exonic EVI5 nonsynonymous SNV EVI5:NM_001308248:exon7:c.A1006G:p.I336V,EVI5:NM_001350197:exon7:c.A874G:p.I292V,EVI5:NM_001350198:exon7:c.A874G:p.I292V,EVI5:NM_005665:exon7:c.A1006G:p.I336V 0.95 0.95 0.95 0.98 0.91 0.97 0.9216 0.9438 0.9566 0.9634 0.8809 0.8991 0.9328 0.9676 0.91 0.94 0.9 0.95 0.91 rs2391199 . . Benign not_specified RCV000454998.1 MedGen CN169374 . . . . . . 0.606 0.055 T 0.0 0.026 B 0.003 0.112 B 0.023 0.265 N 0.012 0.407 P -0.115 0.046 N 2.01 0.213 T -0.09 0.084 N 0.039 0.061 -0.935 0.434 T 0.008 0.028 T . . . -0.025 0.091 2.353 0.796 0.124 0.211 0.211 N c -0.803 -0.645 0.001 0.084 0.707 0.730 0 2.3 0.276 -0.141 0.102 0.993 0.603 0.024 0.198 1.000 0.888 7.969 0.291 Rab-GTPase-TBC domain ENSG00000067208.10|ENSG00000067208.10|ENSG00000067208.10|ENSG00000067208.10 Artery_Tibial|Brain_Caudate_basal_ganglia|Esophagus_Mucosa|Whole_Blood 0.9237 0.9418 0.9550 0.9539 0.9648 0.8856 0.8985 0.9189 0.9680 0.9169 0.9421 0.9606 0.9735 0.9666 0.8838 0.9012 0.9143 hom 4414.82 144 1 93160902 . T C 4414.82 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7281;MQ=58.76;MQ0=0;QD=30.66;VQSLOD=8.7780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4414,334,0 1 93580581 93580581 G C exonic MTF2 nonsynonymous SNV MTF2:NM_001164393:exon3:c.G113C:p.C38S,MTF2:NM_001164392:exon5:c.G419C:p.C140S,MTF2:NM_007358:exon5:c.G419C:p.C140S,MTF2:NM_001164391:exon6:c.G113C:p.C38S 1. 1. 1. 1. 1. 1. 0.9996 0.9957 0.9998 1 1 1 1 1 1. 1. 1. 1. 0.98 rs2815427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9958 0.9998 1 1 1 1.0000 1 1 0.9989 0.9962 0.9988 1 1 1 1 1 hom 2162.26 72 1 93580581 . G C 2162.26 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.04;MQ0=0;QD=30.03;VQSLOD=7.5584;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2195,166,0 1 93620393 93620393 G A exonic TMED5 nonsynonymous SNV TMED5:NM_016040:exon4:c.C524T:p.T175I 0.49 0.07 0.58 0.64 0.63 0.69 0.5864 0.1440 0.5008 0.6418 0.6370 0.6365 0.6035 0.6723 0.47 0.17 0.63 0.27 0.62 rs1060622 . . . . . . . . . . . . . 0.038 0.427 D 0.945 0.513 P 0.71 0.527 P 0.000 0.843 D 0.000 0.810 P . . . 2.36 0.161 T -3.11 0.636 D 0.156 0.186 -1.034 0.191 T 0.059 0.247 T . . . 4.001 0.538 23.6 0.999 0.945 0.988 0.875 D c 0.707 0.673 1.000 0.401 0.707 0.730 0 3.94 0.446 7.970 0.875 1.048 0.713 1.000 0.715 0.999 0.750 10.854 0.458 GOLD domain ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000122483.13|ENSG00000154511.7|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000122483.13|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117500.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.5926 0.1356 0.5180 0.6586 0.6505 0.6425 0.6323 0.6058 0.6655 0.4854 0.1533 0.5310 0.6589 0.6458 0.6312 0.6145 0.5927 het 2034.41 204 1 93620393 . G A 2034.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.206;DP=204;Dels=0.00;FS=0.529;HRun=1;HaplotypeScore=0.7887;MQ=58.45;MQ0=0;MQRankSum=-0.698;QD=9.97;ReadPosRankSum=0.942;VQSLOD=5.5366;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,89:204:99:2064,0,2714 1 93672723 93672723 A C exonic CCDC18 nonsynonymous SNV CCDC18:NM_001306076:exon9:c.A977C:p.N326T,CCDC18:NM_206886:exon9:c.A977C:p.N326T 0.75 0.33 0.84 0.96 0.81 0.97 0.8245 0.3934 0.9028 0.9593 0.8515 0.8204 0.8374 0.9561 0.7 0.42 0.82 0.61 0.73 rs2815413 . . . . . . . . . . . . . 0.584 0.245 T 0.421 0.387 B 0.169 0.413 B 0.000 0.559 D 0.079 0.588 P 1.995 0.543 M 2.31 0.168 T -2.15 0.486 N 0.108 0.157 -1.032 0.197 T 0.021 0.089 T . . . 3.050 0.427 22.4 0.986 0.433 0.879 0.473 D c 0.002 0.086 0.637 0.220 0.707 0.730 0 4.58 0.559 1.766 0.379 1.199 0.960 1.000 0.715 1.000 0.888 8.460 0.319 . ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000229635.1|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000229635.1|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117500.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.8333 0.3833 0.9020 0.8023 0.9623 0.8476 0.8214 0.8249 0.9543 0.7055 0.3887 0.8861 0.8046 0.9506 0.8432 0.8123 0.8128 het 496.35 42 1 93672723 . A C 496.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.834;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=-0.480;QD=11.82;ReadPosRankSum=1.314;VQSLOD=5.6902;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,23:42:99:526,0,477 1 94341267 94341267 A G exonic DNTTIP2 synonymous SNV DNTTIP2:NM_014597:exon3:c.T1740C:p.F580F 0.53 0.54 0.43 0.62 0.42 0.62 0.4754 0.5286 0.4806 0.6274 0.4044 0.4266 0.4676 0.5859 0.46 0.51 0.43 0.52 . rs2273165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4696 0.5300 0.4763 0.4260 0.6209 0.3930 0.4257 0.4510 0.5793 0.4556 0.5313 0.4880 0.38 0.5932 0.3718 0.4155 0.4613 het 773.42 53 1 94341267 . A G 773.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.321;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;MQRankSum=-1.624;QD=14.59;ReadPosRankSum=-2.102;VQSLOD=5.0974;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,28:53:99:803,0,639 1 94342564 94342564 C A exonic DNTTIP2 nonsynonymous SNV DNTTIP2:NM_014597:exon2:c.G927T:p.E309D 0.34 0.082 0.33 0.56 0.33 0.51 0.3538 0.1287 0.3852 0.5633 0.2898 0.3329 0.3492 0.4668 0.27 0.14 0.34 0.28 . rs3747965 COSM3997708 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.156 0.241 T 0.006 0.126 B 0.005 0.104 B 0.813 0.068 N 1 0.090 P 1.735 0.450 L 1.97 0.221 T -0.95 0.253 N 0.021 0.005 -0.977 0.357 T 0.018 0.077 T . . . 0.363 0.129 6.287 0.985 0.421 0.119 0.167 N c -1.071 -1.121 1.000 0.414 0.722 0.854 0 0.373 0.153 -1.697 0.020 0.022 0.145 0.000 0.063 0.795 0.335 4.542 0.114 . ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000260464.1|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Uterus|Vagina 0.3584 0.1232 0.3896 0.3453 0.5645 0.2868 0.3357 0.3461 0.4657 0.2789 0.1278 0.3882 0.3046 0.5360 0.2679 0.3309 0.3452 het 280.87 37 1 94342564 . C A 280.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.572;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9861;MQ=59.38;MQ0=0;MQRankSum=-1.047;QD=7.59;ReadPosRankSum=-1.180;VQSLOD=5.3210;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,11:37:99:311,0,685 1 94343023 94343023 A G exonic DNTTIP2 synonymous SNV DNTTIP2:NM_014597:exon2:c.T468C:p.P156P 0.44 0.38 0.37 0.56 0.35 0.53 0.3931 0.3861 0.4187 0.5730 0.3083 0.3532 0.375 0.4819 0.36 0.38 0.36 0.4 . rs2391322 COSM3997710 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3932 0.3915 0.4201 0.3525 0.5692 0.3042 0.356 0.3760 0.4811 0.3668 0.3947 0.4200 0.3079 0.5396 0.2880 0.3476 0.3814 het 1676.19 127 1 94343023 . A G 1676.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.972;DP=127;Dels=0.00;FS=0.817;HRun=2;HaplotypeScore=3.5403;MQ=59.23;MQ0=0;MQRankSum=0.109;QD=13.20;ReadPosRankSum=-0.581;VQSLOD=6.4330;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,61:127:99:1706,0,2045 1 94343233 94343233 T C exonic DNTTIP2 synonymous SNV DNTTIP2:NM_014597:exon2:c.A258G:p.E86E 0.76 0.81 0.81 0.79 0.66 0.73 0.7170 0.7926 0.8771 0.7785 0.6461 0.6823 0.7016 0.6970 0.73 0.79 0.7 0.76 . rs3789457 COSM3747119 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7212 0.7925 0.8726 0.6613 0.7754 0.6362 0.6873 0.7089 0.6962 0.7186 0.7935 0.8429 0.6126 0.7735 0.6231 0.6878 0.7004 het 1016.43 93 1 94343233 . T C 1016.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.090;DP=93;Dels=0.00;FS=8.693;HRun=0;HaplotypeScore=1.8675;MQ=59.35;MQ0=0;MQRankSum=-2.042;QD=10.93;ReadPosRankSum=-0.098;VQSLOD=3.7418;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,43:93:99:1046,0,1420 1 94471075 94471075 A G exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon44:c.T6069C:p.I2023I 0.77 0.37 0.9 0.9 0.94 0.91 0.8894 0.4474 0.9413 0.8885 0.9568 0.9363 0.9075 0.9142 0.78 0.47 0.93 0.72 0.9 rs1762114 COSM3997712 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign|Benign|Benign not_specified|Cone-Rod_Dystrophy\x2c_Recessive|Stargardt_Disease\x2c_Recessive|Macular_degeneration|Retinitis_Pigmentosa\x2c_Recessive RCV000178546.3|RCV000296912.1|RCV000300456.1|RCV000355311.1|RCV000404512.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|CN239309|CN239312|HP:0000608:C0024437|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8995 0.4390 0.9373 0.8898 0.8855 0.9593 0.9379 0.9088 0.9143 0.8011 0.4595 0.9320 0.8907 0.8710 0.9674 0.9372 0.9061 hom 3816.09 124 1 94471075 . A G 3816.09 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.81;MQ0=0;QD=30.77;VQSLOD=8.3731;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3815,301,0 1 94473845 94473845 T C exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon42:c.A5844G:p.P1948P 0.17 0.26 0.16 0.12 0.14 0.11 0.1748 0.2397 0.1514 0.1311 0.1712 0.1854 0.1656 0.1327 0.2 0.23 0.18 0.15 0.2 rs2275029 COSM146561 1(stomach);1(liver) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Retinitis_Pigmentosa\x2c_Recessive|Cone-Rod_Dystrophy\x2c_Recessive|Stargardt_Disease\x2c_Recessive|Macular_degeneration RCV000152704.5|RCV000269749.1|RCV000324408.1|RCV000328383.1|RCV000382920.1 MedGen|MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN169374|CN239466|CN239309|CN239312|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1725 0.2393 0.1550 0.2034 0.1255 0.1729 0.1832 0.1848 0.1335 0.1974 0.2305 0.1538 0.2086 0.1292 0.1856 0.1914 0.1840 het 736.58 80 1 94473845 . T C 736.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.518;DP=80;Dels=0.00;FS=3.094;HRun=2;HaplotypeScore=3.3963;MQ=59.71;MQ0=0;MQRankSum=-1.427;QD=9.21;ReadPosRankSum=0.723;VQSLOD=5.0363;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,33:80:99:767,0,1231 1 94474328 94474328 T C exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon41:c.A5814G:p.L1938L 0.19 0.27 0.23 0.12 0.19 0.12 0.1886 0.2425 0.2430 0.1311 0.1739 0.1930 0.1762 0.1354 0.21 0.24 0.19 0.18 0.21 rs4147857 COSM146562 1(stomach) not provided|Benign|Likely benign|Likely benign|Likely benign|Likely benign not_provided|not_specified|Retinitis_Pigmentosa\x2c_Recessive|Macular_degeneration|Cone-Rod_Dystrophy\x2c_Recessive|Stargardt_Disease\x2c_Recessive RCV000085761.3|RCV000211879.2|RCV000309928.1|RCV000349633.1|RCV000364498.1|RCV000402778.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen CN221809|CN169374|CN239466|HP:0000608:C0024437|CN239309|CN239312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1894 0.2408 0.2433 0.2060 0.1259 0.1758 0.1914 0.1994 0.1361 0.2040 0.2342 0.2225 0.2086 0.1270 0.1890 0.1979 0.1939 het 3224.03 231 1 94474328 . T C 3224.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.494;DP=231;DS;Dels=0.00;FS=1.600;HRun=0;HaplotypeScore=6.2730;MQ=58.81;MQ0=0;MQRankSum=2.104;QD=13.96;ReadPosRankSum=-1.488;VQSLOD=4.2421;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,117:231:99:3254,0,3076 1 94476388 94476388 C G exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon40:c.G5682C:p.L1894L 0.2 0.27 0.21 0.12 0.25 0.13 0.2197 0.2500 0.1758 0.1309 0.2147 0.2515 0.2078 0.1517 0.25 0.24 0.25 0.17 0.25 rs1801574 COSM146563 1(stomach);1(liver) not provided|Benign|Likely benign|Likely benign|Likely benign|Likely benign not_provided|not_specified|Stargardt_Disease\x2c_Recessive|Cone-Rod_Dystrophy\x2c_Recessive|Retinitis_Pigmentosa\x2c_Recessive|Macular_degeneration RCV000085750.3|RCV000178425.2|RCV000263057.1|RCV000318478.1|RCV000321911.1|RCV000376557.1 MedGen|MedGen|MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN221809|CN169374|CN239312|CN239309|CN239466|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2154 0.2485 0.1782 0.2397 0.1257 0.2129 0.2509 0.2327 0.1520 0.2367 0.2425 0.1806 0.2318 0.1279 0.2265 0.2516 0.2224 het 1148.24 75 1 94476388 . C G 1148.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=75;Dels=0.00;FS=1.949;HRun=1;HaplotypeScore=4.9717;MQ=58.94;MQ0=0;MQRankSum=-0.806;QD=15.31;ReadPosRankSum=-0.699;VQSLOD=4.2987;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,42:75:99:1178,0,885 1 94517254 94517254 C G exonic ABCA4 nonsynonymous SNV ABCA4:NM_000350:exon17:c.G2588C:p.G863A 0.0012 0.0008 . . 0.003 0.002 0.0051 0.0016 0.0010 0 0.0014 0.0081 0.0023 0.0022 0.0052 0.0023 0.0067 . 0.016 rs76157638 COSM328066 1(pancreas) Pathogenic|other|Pathogenic|Pathogenic|Pathogenic|Pathogenic|Uncertain significance|Uncertain significance Stargardt_disease_1|Cone-rod_dystrophy_3|not_provided|Stargardt_disease_1|Stargardt_disease_1|Stargardt_disease_1|Abnormality_of_the_macula|Peripheral_neuropathy RCV000008328.5|RCV000008329.3|RCV000085494.2|RCV000197749.1|RCV000408474.1|RCV000408579.1|RCV000415097.1|RCV000415097.1 MedGen:OMIM|MedGen:OMIM|MedGen|MedGen:OMIM|MedGen:OMIM|MedGen:OMIM|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen C1855465:248200|C1858806:604116|CN221809|C1855465:248200|C1855465:248200|C1855465:248200|HP:0001103:C0730362|HP:0009830:C0442874 . . . . . . 0.002 0.721 D 0.795 0.455 P 0.466 0.448 P 0.000 0.629 D 0.995 0.588 A 3.175 0.890 M -1.04 0.766 T -5.66 0.870 D 0.829 0.838 0.063 0.835 D 0.437 0.777 T . . . 5.667 0.773 26.7 0.997 0.819 0.988 0.876 D c 0.584 0.586 1.000 0.747 0.497 0.185 0 4.9 0.635 7.041 0.761 0.935 0.490 1.000 0.715 0.959 0.439 15.279 0.734 . . . 0.0044 0.0013 0.0011 0.0022 0 0.0011 0.0081 0.0031 0.0020 0.0036 0.0013 0.0036 0 0 0.0014 0.0060 0.0041 het 1168.40 93 1 94517254 . C G 1168.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.769;DP=93;Dels=0.00;FS=2.910;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=2.089;QD=12.56;ReadPosRankSum=-0.394;VQSLOD=5.1981;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,46:93:99:1198,0,1193 1 94578548 94578548 T C exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon2:c.A141G:p.P47P 0.99 0.95 1. 1. 1. 1. 0.9964 0.9603 0.9984 1 1 0.9999 0.9989 0.9998 0.99 0.96 1. 1. 1. rs4847281 . . not provided\x2cBenign not_provided\x2cnot_specified RCV000085396.1\x2cRCV000152712.2 MedGen\x2cMedGen CN221809\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9597 0.9983 1 0.9999 1 0.9999 0.9995 0.9998 0.9890 0.9619 0.9976 1 1 1 0.9998 0.9969 hom 5302.98 185 1 94578548 . T C 5302.98 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9940;MQ=59.55;MQ0=0;QD=28.66;VQSLOD=8.3173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5302,409,0 1 94639447 94639447 C T exonic ARHGAP29 nonsynonymous SNV ARHGAP29:NM_001328665:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328667:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328664:exon23:c.G3764A:p.G1255D,ARHGAP29:NM_001328666:exon23:c.G3737A:p.G1246D,ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D 0.94 0.8 0.98 1. 1. 1. 0.9849 0.8344 0.9941 1 1 0.9996 0.9978 0.9998 0.94 0.84 1. 0.92 0.99 rs1999272 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.397 N 1.000 0.197 P -2.33 0.001 N 2.18 0.189 T 0.46 0.031 N 0.076 0.067 -0.947 0.416 T 0.005 0.017 T . . . 1.555 0.249 13.60 0.147 0.003 0.078 0.137 N c -0.712 -0.422 0.999 0.374 0.672 0.522 0 4.69 0.584 1.983 0.400 0.119 0.209 1.000 0.715 0.999 0.750 7.524 0.266 . . . 0.9882 0.8315 0.9931 1 1 1.0000 0.9997 0.9961 0.9997 0.9559 0.8460 0.9976 1 1 1 0.9994 0.9888 hom 6604.64 211 1 94639447 . C T 6604.64 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1357;MQ=59.66;MQ0=0;QD=31.30;VQSLOD=7.1211;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6604,533,0 1 94643531 94643531 T C exonic ARHGAP29 synonymous SNV ARHGAP29:NM_001328665:exon20:c.A2481G:p.Q827Q,ARHGAP29:NM_001328667:exon20:c.A2481G:p.Q827Q,ARHGAP29:NM_001328664:exon21:c.A2673G:p.Q891Q,ARHGAP29:NM_001328666:exon21:c.A2646G:p.Q882Q,ARHGAP29:NM_004815:exon21:c.A2673G:p.Q891Q 0.14 0.032 0.21 0.002 0.3 0.2 0.2181 0.0639 0.2214 0.0027 0.2470 0.2731 0.2269 0.1916 0.2 0.069 0.26 0.11 0.21 rs1048854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2202 0.0582 0.2120 0.2710 0.0027 0.2480 0.2734 0.2618 0.1947 0.1917 0.0639 0.1950 0.2848 0.0006 0.2457 0.2685 0.2469 hom 4134.40 123 1 94643531 . T C 4134.40 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.25;MQ0=0;QD=33.61;VQSLOD=9.8168;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4134,316,0 1 94930345 94930345 G A exonic ABCD3 synonymous SNV ABCD3:NM_001122674:exon3:c.G162A:p.K54K,ABCD3:NM_002858:exon3:c.G162A:p.K54K 0.28 0.1 0.39 0.2 0.5 0.3 0.3923 0.1476 0.3755 0.2093 0.3603 0.4691 0.4075 0.3562 0.37 0.16 0.48 0.36 0.31 rs16946 COSM3751462;COSM3751463 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000242700.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3975 0.1438 0.3752 0.4510 0.2084 0.3639 0.4768 0.4489 0.3649 0.3488 0.1575 0.3753 0.4233 0.2076 0.3586 0.4651 0.4261 hom 2991.61 96 1 94930345 . G A 2991.61 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;QD=31.16;VQSLOD=9.4031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3025,232,0 1 95001600 95001600 A C exonic F3 synonymous SNV F3:NM_001178096:exon3:c.T333G:p.P111P,F3:NM_001993:exon3:c.T333G:p.P111P 0.98 0.94 1. 1. 1. 1. 0.9950 0.9435 0.9982 1 1 1.0000 0.9989 1 0.98 0.95 1. 0.98 1. rs698946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9462 0.9979 1 1 1 0.9999 0.9985 0.9999 0.9867 0.9532 0.9988 1 1 1 1 0.9969 hom 8257.28 250 1 95001600 . A C 8257.28 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2931;MQ=59.48;MQ0=0;QD=33.03;VQSLOD=9.9574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8256,677,0 1 95330372 95330372 G A exonic SLC44A3 nonsynonymous SNV SLC44A3:NM_001258342:exon10:c.G1204A:p.V402I,SLC44A3:NM_001258343:exon10:c.G1108A:p.V370I,SLC44A3:NM_001301079:exon10:c.G1072A:p.V358I,SLC44A3:NM_001350223:exon10:c.G1021A:p.V341I,SLC44A3:NM_152369:exon10:c.G1168A:p.V390I,SLC44A3:NM_001114106:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258340:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258341:exon11:c.G1216A:p.V406I 0.75 0.48 0.81 0.98 0.78 0.81 0.7701 0.5396 0.8824 0.9812 0.8011 0.7562 0.7544 0.7709 0.68 0.55 0.75 0.7 0.68 rs859098 COSM4165352;COSM4165351 1(kidney);1(pancreas) . . . . . . . . . . . 0.065 0.375 T 0.312 0.449 B 0.056 0.416 B 0.027 0.258 N 1 0.090 P 1.87 0.498 L 2.26 0.176 T -0.64 0.193 N 0.047 0.039 -1.103 0.037 T 0.030 0.128 T . . . 1.894 0.288 15.55 0.988 0.453 0.821 0.411 D c -0.054 -0.029 1.000 0.747 0.653 0.482 0 5.63 0.861 4.195 0.580 0.135 0.219 0.997 0.399 0.002 0.062 13.912 0.632 . ENSG00000235565.1|ENSG00000224081.3|ENSG00000235565.1|ENSG00000224081.3|ENSG00000143036.12|ENSG00000237416.2 Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Thyroid 0.7807 0.5357 0.8822 0.7140 0.9807 0.8042 0.7566 0.7692 0.7736 0.7141 0.5358 0.8604 0.6921 0.9815 0.8057 0.7559 0.7735 hom 7809.05 243 1 95330372 . G A 7809.05 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8907;MQ=59.48;MQ0=0;QD=32.14;VQSLOD=9.5358;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:243:99:7808,620,0 1 95709821 95709821 T C exonic RWDD3 nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T140C:p.V47A,RWDD3:NM_001199682:exon2:c.T140C:p.V47A,RWDD3:NM_015485:exon2:c.T140C:p.V47A,RWDD3:NM_001278247:exon3:c.T95C:p.V32A,RWDD3:NM_001278248:exon3:c.T95C:p.V32A 0.98 0.94 1. 1. 1. 1. 0.9955 0.9508 0.9980 1 1 0.9996 0.9978 0.9998 0.99 0.96 1. 0.95 1. rs259358 . . . . . . . . . . . . . 0.452 0.089 T 0.0 0.067 B 0.001 0.063 B 0.507 0.051 N 1 0.090 P -0.22 0.040 N 2.03 0.210 T 0.62 0.030 N 0.005 0.065 -0.978 0.354 T 0.004 0.012 T . . . -2.916 0.001 0.001 0.433 0.032 0.009 0.034 N c -1.984 -1.995 0.997 0.353 0.719 0.830 0 -9.18 0.006 -0.491 0.065 -1.934 0.005 0.019 0.194 0.001 0.043 7.487 0.264 RWD domain|Ubiquitin-conjugating enzyme/RWD-like . . 0.9962 0.9513 0.9971 0.9999 1 1 0.9995 0.9953 0.9999 0.9862 0.9518 0.9976 1 1 1 0.9999 0.9969 hom 3415.54 110 1 95709821 . T C 3415.54 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;QD=31.05;VQSLOD=9.7070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3415,274,0 1 95709939 95709939 T G exonic RWDD3 nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T258G:p.N86K,RWDD3:NM_001199682:exon2:c.T258G:p.N86K,RWDD3:NM_015485:exon2:c.T258G:p.N86K,RWDD3:NM_001278247:exon3:c.T213G:p.N71K,RWDD3:NM_001278248:exon3:c.T213G:p.N71K 0.82 0.68 0.85 0.8 0.87 0.93 0.8548 0.7089 0.8351 0.7729 0.8792 0.8646 0.8956 0.9466 0.82 0.72 0.87 0.75 0.8 rs2296308 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1 0.090 P -2.615 0.000 N 2.14 0.194 T 1.42 0.011 N 0.027 0.012 -0.999 0.302 T 0.002 0.007 T . . . -2.542 0.003 0.001 0.491 0.041 0.035 0.086 N c -2.181 -2.001 0.040 0.144 0.719 0.830 0 -1.54 0.081 -0.117 0.106 -1.394 0.012 0.731 0.287 0.075 0.178 9.064 0.354 RWD domain|Ubiquitin-conjugating enzyme/RWD-like ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000226026.1|ENSG00000122481.12|ENSG00000228852.2|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000226026.1|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000226026.1|ENSG00000228852.2|ENSG00000226026.1|ENSG00000122481.12|ENSG00000228852.2|ENSG00000226026.1 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.8555 0.7046 0.8272 0.8707 0.7750 0.8760 0.8660 0.8679 0.9462 0.8209 0.7189 0.8401 0.8907 0.7618 0.8706 0.8696 0.8615 hom 3972.74 116 1 95709939 . T G 3972.74 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;QD=34.25;VQSLOD=9.7692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3972,313,0 1 97272456 97272456 A G exonic PTBP2 synonymous SNV PTBP2:NM_001300990:exon10:c.A957G:p.L319L,PTBP2:NM_001300985:exon11:c.A1128G:p.L376L,PTBP2:NM_001300986:exon11:c.A1137G:p.L379L,PTBP2:NM_001300988:exon11:c.A1128G:p.L376L,PTBP2:NM_001300989:exon11:c.A1113G:p.L371L,PTBP2:NM_021190:exon11:c.A1113G:p.L371L,PTBP2:NM_001300987:exon12:c.A1161G:p.L387L 0.28 0.54 0.15 0.21 0.21 0.15 0.2123 0.5025 0.1368 0.2116 0.1947 0.1949 0.2026 0.1610 0.29 0.5 0.19 0.24 0.2 rs6699932 COSM3747120 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.202 0.5012 0.1426 0.2292 0.2103 0.2016 0.1873 0.1992 0.1580 0.2786 0.4998 0.1603 0.2715 0.1984 0.1934 0.1892 0.2204 het 1149.29 119 1 97272456 . A G 1149.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.192;DP=119;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=2.4720;MQ=58.22;MQ0=0;MQRankSum=1.546;QD=9.66;ReadPosRankSum=0.201;VQSLOD=5.6784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,52:119:99:1179,0,1599 1 97981395 97981395 T C exonic DPYD nonsynonymous SNV DPYD:NM_000110:exon13:c.A1627G:p.I543V 0.18 0.15 0.27 0.27 0.19 0.083 0.1930 0.1574 0.3116 0.2515 0.1655 0.1978 0.1803 0.0951 0.18 0.16 0.2 0.17 0.19 rs1801159 COSM3747121 1(liver);1(large_intestine) not provided|Benign|Likely benign not_provided|not_specified|Dihydropyrimidine_dehydrogenase_deficiency RCV000086475.1|RCV000174446.2|RCV000389596.1 MedGen|MedGen|MedGen:OMIM CN221809|CN169374|C2720286:274270 . . . . . . 0.111 0.290 T 0.0 0.026 B 0.0 0.013 B 0.007 0.314 N 1.000 0.197 P 0.49 0.133 N -0.8 0.739 T 0.73 0.021 N 0.023 0.006 -1.011 0.266 T 0.053 0.225 T . . . 0.829 0.173 9.639 0.960 0.278 0.809 0.401 D c -1.000 -0.919 0.007 0.115 0.693 0.558 0 -3.13 0.049 1.397 0.339 -0.169 0.106 0.994 0.380 0.975 0.474 9.702 0.392 Aldolase-type TIM barrel|Dihydroorotate dehydrogenase domain . . 0.1968 0.1569 0.2974 0.2034 0.2528 0.1680 0.1970 0.1945 0.0944 0.1754 0.1552 0.2608 0.21 0.2427 0.1556 0.1802 0.1612 het 1035.15 60 1 97981395 . T C 1035.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.411;DP=60;Dels=0.00;FS=1.095;HRun=0;HaplotypeScore=0.9867;MQ=58.45;MQ0=0;MQRankSum=-0.196;QD=17.25;ReadPosRankSum=1.121;VQSLOD=5.1390;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,40:60:99:1065,0,424 1 98348885 98348885 G A exonic DPYD nonsynonymous SNV DPYD:NM_000110:exon2:c.C85T:p.R29C,DPYD:NM_001160301:exon2:c.C85T:p.R29C 0.74 0.56 0.78 0.91 0.79 0.73 0.7652 0.5836 0.7928 0.9258 0.7035 0.7788 0.7737 0.7456 0.72 0.6 0.78 0.69 0.81 rs1801265 COSM3735988;COSM3735989 1(skin) Pathogenic\x2cnot provided Dihydropyrimidine_dehydrogenase_deficiency\x2cnot_provided RCV000000464.2\x2cRCV000086506.1 MedGen:OMIM\x2cMedGen C2720286:274270\x2cCN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7709 0.5870 0.7883 0.8859 0.9287 0.7055 0.7767 0.7663 0.7451 0.7199 0.5991 0.7769 0.8642 0.9284 0.7140 0.7626 0.7352 hom 3393.19 118 1 98348885 . G A 3393.19 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;QD=28.76;VQSLOD=8.2031;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3393,265,0 1 99225627 99225627 G A exonic SNX7 synonymous SNV SNX7:NM_152238:exon8:c.G1131A:p.E377E,SNX7:NM_015976:exon9:c.G1296A:p.E432E 0.88 0.87 0.91 0.67 0.99 0.97 0.9378 0.8923 0.8424 0.6455 0.9741 0.9865 0.9514 0.9723 0.96 0.9 0.99 0.86 0.98 rs2019213 COSM3997720;COSM3997719 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9350 0.8938 0.8486 0.9883 0.6500 0.9731 0.9867 0.9595 0.9721 0.9397 0.8978 0.8549 0.9967 0.6478 0.9745 0.9887 0.9633 hom 1995.75 68 1 99225627 . G A 1995.75 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8410;MQ=58.20;MQ0=0;QD=29.35;VQSLOD=7.8522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2029,156,0 1 99418647 99418647 G C exonic PLPPR5 synonymous SNV PLPPR5:NM_001010861:exon3:c.C600G:p.V200V,PLPPR5:NM_001037317:exon3:c.C600G:p.V200V 0.22 0.27 0.16 0.24 0.18 0.23 0.1952 0.2688 0.1532 0.2305 0.2048 0.1754 0.2026 0.2357 0.21 0.27 0.17 0.22 0.2 rs309087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1914 0.2671 0.1513 0.1480 0.2272 0.1994 0.1781 0.1861 0.2348 0.2069 0.2776 0.1480 0.1722 0.2257 0.1901 0.1733 0.1830 het 817.94 72 1 99418647 . G C 817.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.167;DP=72;Dels=0.00;FS=0.964;HRun=0;HaplotypeScore=2.8649;MQ=57.12;MQ0=1;MQRankSum=1.770;QD=11.36;ReadPosRankSum=1.308;VQSLOD=4.3130;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,33:72:99:848,0,1017 1 100336361 100336361 C T exonic AGL synonymous SNV AGL:NM_000028:exon7:c.C894T:p.L298L,AGL:NM_000642:exon7:c.C894T:p.L298L,AGL:NM_000643:exon7:c.C894T:p.L298L,AGL:NM_000644:exon7:c.C894T:p.L298L,AGL:NM_000646:exon7:c.C846T:p.L282L 0.76 0.93 0.7 0.68 0.68 0.75 0.7214 0.9144 0.6901 0.6811 0.6795 0.7011 0.6998 0.7494 0.77 0.91 0.7 0.75 0.66 rs2230306 . . Benign|Benign not_specified|Glycogen_storage_disease_type_III RCV000179774.3|RCV000327447.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0017922:232400:ORPHA308684:66937008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7168 0.9165 0.6916 0.6933 0.6854 0.6749 0.7030 0.7147 0.7511 0.7554 0.9147 0.6909 0.7318 0.7017 0.6999 0.6887 0.7039 hom 1085.37 36 1 100336361 . C T 1085.37 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.15;VQSLOD=13.0005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:84.27:1118,84,0 1 100575933 100575933 G A exonic SASS6 nonsynonymous SNV SASS6:NM_001304829:exon7:c.C275T:p.A92V,SASS6:NM_194292:exon8:c.C776T:p.A259V 0.35 0.066 0.56 0.58 0.39 0.31 0.3994 0.1145 0.6551 0.5861 0.4188 0.3932 0.3980 0.3191 0.31 0.13 0.4 0.29 0.34 rs13375867 COSM3747458 1(liver) . . . . . . . . . . . 0.277 0.156 T 0.018 0.165 B 0.009 0.133 B 0.014 0.287 N 1 0.090 P 0.665 0.163 N -1.16 0.781 T -1.48 0.362 N 0.034 0.014 -1.060 0.117 T 0.097 0.364 T . . . 2.370 0.346 18.62 0.979 0.360 0.070 0.128 N c -0.515 -0.373 0.236 0.185 0.615 0.372 0 3.41 0.380 1.301 0.328 1.048 0.713 0.011 0.184 0.993 0.574 5.270 0.148 . . . 0.4112 0.1134 0.6245 0.2999 0.5720 0.4191 0.4002 0.4012 0.3128 0.3465 0.1223 0.5644 0.3033 0.5690 0.4422 0.4167 0.3926 het 808.78 46 1 100575933 . G A 808.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.614;DP=46;Dels=0.00;FS=2.755;HRun=0;HaplotypeScore=0.0000;MQ=56.47;MQ0=0;MQRankSum=0.132;QD=17.58;ReadPosRankSum=-1.914;VQSLOD=2.7183;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,31:46:99:839,0,382 1 100598866 100598866 G A exonic TRMT13 nonsynonymous SNV TRMT13:NM_019083:exon1:c.G142A:p.A48T 0.76 0.38 0.89 0.93 0.85 0.9 0.8402 0.4465 0.9332 0.9562 0.8891 0.8511 0.8604 0.8952 0.71 0.46 0.85 . 0.66 rs472498 . . . . . . . . . . . . . 0.285 0.226 T 0.196 0.279 B 0.04 0.225 B 0.001 0.407 D 0.928 0.290 P 0.83 0.210 L 0.87 0.475 T -0.85 0.260 N 0.182 0.226 -1.080 0.074 T 0.037 0.161 T . . . 3.357 0.462 22.9 0.996 0.761 0.078 0.137 N c -0.263 -0.120 1.000 0.747 0.442 0.072 0 4.07 0.466 2.023 0.404 0.953 0.551 0.881 0.308 0.995 0.604 10.376 0.431 . ENSG00000137996.8|ENSG00000137996.8|ENSG00000122477.8|ENSG00000137996.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000137996.8 Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Muscularis|Ovary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8520 0.4424 0.9209 0.8904 0.9593 0.8840 0.8490 0.8541 0.8947 0.7461 0.4483 0.9075 0.9106 0.9621 0.8840 0.8458 0.8326 hom 1702.91 56 1 100598866 . G A 1702.91 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=30.41;VQSLOD=8.4052;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1736,138,0 1 100598867 100598867 C T exonic TRMT13 nonsynonymous SNV TRMT13:NM_019083:exon1:c.C143T:p.A48V 0.76 0.38 0.89 0.93 0.85 0.9 0.8403 0.4467 0.9332 0.9562 0.8890 0.8512 0.8607 0.8953 0.71 0.46 0.85 . 0.66 rs687513 . . . . . . . . . . . . . 0.093 0.315 T 0.327 0.314 B 0.055 0.246 B 0.001 0.407 D 0.602 0.309 P 0.975 0.246 L 0.85 0.488 T -1.6 0.399 N 0.155 0.191 -1.073 0.089 T 0.046 0.199 T . . . 4.057 0.545 23.7 0.998 0.857 0.065 0.124 N c -0.046 0.083 1.000 0.747 0.442 0.072 0 4.99 0.658 1.503 0.351 0.852 0.362 0.892 0.310 0.995 0.604 8.404 0.316 . ENSG00000137996.8|ENSG00000137996.8|ENSG00000122477.8|ENSG00000117620.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000137996.8 Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Ovary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8520 0.4424 0.9209 0.8904 0.9593 0.8839 0.8491 0.8541 0.8947 0.7462 0.4485 0.9075 0.9106 0.9621 0.8840 0.8457 0.8330 hom 1675.23 53 1 100598867 . C T 1675.23 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=31.61;VQSLOD=9.4010;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1708,135,0 1 100672060 100672060 T C exonic DBT nonsynonymous SNV DBT:NM_001918:exon9:c.A1150G:p.S384G 0.89 0.74 0.95 0.95 0.92 0.96 0.9138 0.7642 0.9628 0.9703 0.9338 0.9096 0.9306 0.9521 0.86 0.77 0.9 0.87 0.88 rs12021720 . . Pathogenic\x2cother Intermediate_maple_syrup_urine_disease_type_2\x2cnot_specified RCV000012727.23\x2cRCV000116865.5 MedGen\x2cMedGen CN069615\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P . . . 1.19 0.376 T 3.03 0.001 N 0.155 0.185 -1.012 0.262 T 0.014 0.055 T . . . -0.197 0.076 1.112 0.151 0.004 0.017 0.052 N c -0.706 -0.588 0.043 0.146 0.707 0.730 0 4.4 0.522 1.939 0.396 0.069 0.176 0.586 0.274 0.510 0.273 9.627 0.387 2-oxoacid dehydrogenase acyltransferase\x2c catalytic domain|Chloramphenicol acetyltransferase-like domain ENSG00000137996.8|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137996.8|ENSG00000117620.8|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid 0.9179 0.7639 0.9548 0.9170 0.9705 0.9306 0.9081 0.9132 0.9522 0.8826 0.7705 0.9523 0.9205 0.9703 0.9358 0.9186 0.9223 hom 8490.70 249 1 100672060 . T C 8490.70 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1396;MQ=59.47;MQ0=0;QD=34.10;VQSLOD=9.3821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8490,659,0 1 101203698 101203698 C T exonic VCAM1 synonymous SNV VCAM1:NM_080682:exon8:c.C1803T:p.D601D,VCAM1:NM_001078:exon9:c.C2079T:p.D693D,VCAM1:NM_001199834:exon9:c.C1893T:p.D631D 0.13 0.17 0.24 0.021 0.15 0.084 0.1577 0.1582 0.2855 0.0111 0.1184 0.1748 0.1377 0.0918 0.17 0.16 0.17 0.054 0.29 rs3176878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1615 0.1596 0.2761 0.2676 0.0121 0.1269 0.1665 0.1698 0.0925 0.1561 0.1602 0.2494 0.3046 0.0149 0.1237 0.1695 0.1370 het 1648.59 176 1 101203698 . C T 1648.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.173;DP=176;Dels=0.00;FS=1.939;HRun=1;HaplotypeScore=1.9963;MQ=59.21;MQ0=0;MQRankSum=0.294;QD=9.37;ReadPosRankSum=0.455;VQSLOD=6.6360;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,69:176:99:1679,0,2879 1 101203827 101203827 G A exonic VCAM1 synonymous SNV VCAM1:NM_080682:exon8:c.G1932A:p.K644K,VCAM1:NM_001078:exon9:c.G2208A:p.K736K,VCAM1:NM_001199834:exon9:c.G2022A:p.K674K 0.87 0.69 0.96 0.85 0.97 0.97 0.9374 0.7095 0.9666 0.8306 0.9682 0.9716 0.9548 0.9649 0.88 0.72 0.97 0.81 0.97 rs3176879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9422 0.7061 0.9656 0.9682 0.8344 0.9663 0.9703 0.9598 0.9636 0.8887 0.7227 0.9618 0.9536 0.8350 0.9625 0.9644 0.95 hom 2904.53 90 1 101203827 . G A 2904.53 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=32.27;VQSLOD=9.5263;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2938,235,0 1 103352451 103352451 A G exonic COL11A1 synonymous SNV COL11A1:NM_080630:exon61:c.T4422C:p.I1474I,COL11A1:NM_001190709:exon62:c.T4653C:p.I1551I,COL11A1:NM_001854:exon63:c.T4770C:p.I1590I,COL11A1:NM_080629:exon63:c.T4806C:p.I1602I 0.48 0.05 0.75 0.66 0.61 0.57 0.5801 0.1263 0.7508 0.6445 0.6522 0.6067 0.6222 0.5743 0.45 0.14 0.61 0.37 0.55 rs2229783 COSM3747460;COSM3747461 1(haematopoietic_and_lymphoid_tissue);1(liver);1(upper_aerodigestive_tract) Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Fibrochondrogenesis|Marshall_syndrome RCV000246005.2|RCV000289617.1|RCV000346871.1|RCV000397321.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|CN239460|C0265282:228520:ORPHA2021:17144009|C0265235:154780:33410002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5946 0.1195 0.7331 0.5558 0.6383 0.6491 0.6093 0.6165 0.5708 0.4908 0.1380 0.6746 0.5430 0.6694 0.6385 0.6237 0.6051 het 1282.05 134 1 103352451 . A G 1282.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.973;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7331;MQ=59.72;MQ0=0;MQRankSum=0.153;QD=9.57;ReadPosRankSum=-0.372;VQSLOD=6.5072;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,55:134:99:1312,0,2290 1 103354138 103354138 A G exonic COL11A1 nonsynonymous SNV COL11A1:NM_080630:exon60:c.T4255C:p.S1419P,COL11A1:NM_001190709:exon61:c.T4486C:p.S1496P,COL11A1:NM_001854:exon62:c.T4603C:p.S1535P,COL11A1:NM_080629:exon62:c.T4639C:p.S1547P 0.78 0.8 0.89 0.75 0.83 0.66 0.7942 0.8103 0.8781 0.7304 0.8634 0.8088 0.8289 0.6706 0.81 0.8 0.81 0.76 0.72 rs1676486 COSM5438333;COSM5438332 1(oesophagus) other|Benign|Benign|Benign|Benign Lumbar_disc_herniation\x2c_susceptibility_to|not_specified|Stickler_Syndrome\x2c_Dominant|Fibrochondrogenesis|Marshall_syndrome RCV000018675.5|RCV000252849.2|RCV000292881.1|RCV000332848.1|RCV000387237.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT C2676840|CN169374|CN239460|C0265282:228520:ORPHA2021:17144009|C0265235:154780:33410002 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.601 0.309 P -1.41 0.006 N -3.42 0.944 D 4.95 0.000 N 0.112 0.188 -0.805 0.549 T 0.204 0.562 T . . . 2.942 0.414 22.0 0.666 0.079 0.094 0.150 N c -0.698 -0.341 0.981 0.301 0.706 0.609 0 5.67 0.876 5.474 0.663 0.138 0.222 1.000 0.715 0.963 0.446 14.890 0.701 . . . 0.7995 0.8070 0.8728 0.8211 0.7251 0.8621 0.8086 0.8157 0.6698 0.8121 0.8054 0.8505 0.8079 0.7658 0.8545 0.8092 0.8096 het 634.20 39 1 103354138 . A G 634.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.147;DP=39;Dels=0.00;FS=2.920;HRun=1;HaplotypeScore=0.7887;MQ=57.12;MQ0=0;MQRankSum=-1.098;QD=16.26;ReadPosRankSum=-2.328;VQSLOD=2.5415;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,25:39:99:664,0,303 1 103354428 103354428 A G exonic COL11A1 synonymous SNV COL11A1:NM_080630:exon58:c.T4164C:p.G1388G,COL11A1:NM_001190709:exon59:c.T4395C:p.G1465G,COL11A1:NM_001854:exon60:c.T4512C:p.G1504G,COL11A1:NM_080629:exon60:c.T4548C:p.G1516G 0.62 0.26 0.84 0.75 0.8 0.65 0.7239 0.3112 0.8342 0.7251 0.8109 0.7779 0.7698 0.6491 0.62 0.32 0.78 0.53 0.7 rs1763347 COSM423331;COSM423330 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Marshall_syndrome|Fibrochondrogenesis RCV000249297.2|RCV000304656.1|RCV000334895.1|RCV000395180.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239460|C0265235:154780:33410002|C0265282:228520:ORPHA2021:17144009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7376 0.3005 0.8250 0.7963 0.7192 0.8088 0.7776 0.7704 0.6488 0.6501 0.3125 0.8103 0.7848 0.7559 0.8027 0.7805 0.7531 het 779.01 71 1 103354428 . A G 779.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.453;DP=71;Dels=0.00;FS=1.984;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=1.262;QD=10.97;ReadPosRankSum=-1.355;VQSLOD=6.0601;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,33:71:99:809,0,898 1 103379918 103379918 G A exonic COL11A1 nonsynonymous SNV COL11A1:NM_080630:exon50:c.C3620T:p.P1207L,COL11A1:NM_001190709:exon51:c.C3851T:p.P1284L,COL11A1:NM_001854:exon52:c.C3968T:p.P1323L,COL11A1:NM_080629:exon52:c.C4004T:p.P1335L 0.5 0.049 0.76 0.7 0.61 0.59 0.5916 0.1264 0.7617 0.6892 0.6703 0.6114 0.6425 0.5933 0.45 0.14 0.61 0.36 0.53 rs3753841 COSM3747463;COSM3747462 1(liver);1(upper_aerodigestive_tract) Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Fibrochondrogenesis|Marshall_syndrome RCV000247078.2|RCV000270271.1|RCV000328768.1|RCV000364819.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|CN239460|C0265282:228520:ORPHA2021:17144009|C0265235:154780:33410002 Glaucoma (primary open-angle) 0.83 . 22922875 rs3753841 9E-10 0.042 0.416 D 0.104 0.503 B 0.024 0.528 B 0.000 0.629 D 0.000 0.588 P 2.62 0.769 M -4.09 0.966 D -5.73 0.876 D 0.198 0.567 0.969 0.967 D 0.915 0.972 D . . . 5.659 0.771 26.7 0.998 0.844 0.997 0.985 D c 0.508 0.615 1.000 0.747 0.693 0.558 0 5.75 0.904 9.294 0.951 1.048 0.713 1.000 0.715 1.000 0.888 19.960 0.972 . . . 0.6065 0.1172 0.7461 0.5941 0.6835 0.6689 0.6118 0.6266 0.5906 0.4980 0.1362 0.6848 0.5993 0.7016 0.6620 0.6284 0.6204 het 667.71 57 1 103379918 . G A 667.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.918;DP=57;Dels=0.00;FS=2.182;HRun=1;HaplotypeScore=0.7340;MQ=58.27;MQ0=0;MQRankSum=-0.312;QD=11.71;ReadPosRankSum=0.574;VQSLOD=5.6216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,30:57:99:698,0,631 1 107979396 107979396 A C exonic NTNG1 synonymous SNV NTNG1:NM_001113226:exon6:c.A1365C:p.G455G,NTNG1:NM_001312688:exon7:c.A1263C:p.G421G 0.95 0.82 0.99 1. 1. 1. 0.9858 0.8399 0.9919 1 1 0.9994 0.9933 0.9997 0.95 0.85 1. 0.85 . rs480392 COSM4142084;COSM4142083 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9886 0.8416 0.9920 0.9995 1 1 0.9994 0.9936 0.9997 0.9556 0.8445 0.9940 1 1 1 0.9994 0.9959 hom 3394.25 103 1 107979396 . A C 3394.25 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;QD=32.95;VQSLOD=9.3009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3394,256,0 1 108185301 108185301 C G exonic VAV3 nonsynonymous SNV VAV3:NM_001079874:exon3:c.G174C:p.Q58H,VAV3:NM_006113:exon20:c.G1854C:p.Q618H 0.15 0.047 0.17 0.23 0.13 0.23 0.1545 0.0690 0.1816 0.2334 0.0979 0.1466 0.1410 0.2034 0.13 0.078 0.15 0.076 0.18 rs12403266 COSM146568;COSM4415694 1(stomach);1(haematopoietic_and_lymphoid_tissue);4(soft_tissue) . . . . . . . . . . . 0.078 0.339 T 0.0 0.026 B 0.001 0.040 B 0.032 0.251 N 1 0.090 P -0.845 0.015 N 1.57 0.293 T 0.42 0.034 N 0.036 0.121 -1.022 0.230 T 0.018 0.074 T . . . -0.434 0.059 0.320 0.115 0.002 0.085 0.143 N c -0.614 -0.607 0.000 0.044 0.693 0.558 0 -0.382 0.118 -0.045 0.119 -0.534 0.049 0.944 0.326 0.303 0.238 6.430 0.209 Calmodulin-regulated spectrin-associated protein\x2c CH domain|Calponin homology domain;SH3 domain|Variant SH3 domain . . 0.1544 0.0669 0.1840 0.1435 0.2264 0.0915 0.1475 0.1445 0.2013 0.1227 0.0721 0.1799 0.1391 0.1987 0.0902 0.1478 0.1268 hom 2199.03 69 1 108185301 . C G 2199.03 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3691;MQ=58.94;MQ0=0;QD=31.87;VQSLOD=8.5879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2232,172,0 1 108185309 108185309 G A exonic VAV3 nonsynonymous SNV VAV3:NM_001079874:exon3:c.C166T:p.P56S,VAV3:NM_006113:exon20:c.C1846T:p.P616S 0.14 0.044 0.16 0.21 0.11 0.23 0.1360 0.0614 0.1733 0.2112 0.0859 0.1213 0.1233 0.1982 0.11 0.068 0.12 0.076 0.18 rs12410676 COSM4416270;COSM4416271 1(haematopoietic_and_lymphoid_tissue);4(soft_tissue) . . . . . . . . . . . 0.48 0.082 T 0.005 0.258 B 0.01 0.246 B 0.001 0.414 D 0.104 0.383 P 1.475 0.372 L 1.6 0.286 T -1.33 0.418 N 0.058 0.163 -1.061 0.114 T 0.024 0.101 T . . . -0.666 0.047 0.086 0.204 0.007 0.801 0.395 D c -0.588 -0.497 0.001 0.081 0.638 0.428 0 3.79 0.426 3.080 0.496 -0.288 0.083 1.000 0.715 0.200 0.217 7.840 0.284 Calmodulin-regulated spectrin-associated protein\x2c CH domain|Calponin homology domain;SH3 domain|Variant SH3 domain . . 0.1369 0.0600 0.1744 0.1143 0.2061 0.0793 0.1230 0.1314 0.1963 0.1015 0.0646 0.1731 0.1093 0.1778 0.0768 0.1162 0.1074 het 907.60 72 1 108185309 . G A 907.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.192;DP=72;Dels=0.00;FS=0.923;HRun=0;HaplotypeScore=3.3417;MQ=58.98;MQ0=0;MQRankSum=-1.328;QD=12.61;ReadPosRankSum=-1.110;VQSLOD=5.5679;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:938,0,965 1 108307727 108307727 T A exonic VAV3 nonsynonymous SNV VAV3:NM_006113:exon9:c.A892T:p.T298S 0.51 0.59 0.43 0.39 0.7 0.38 0.5883 0.6034 0.3551 0.3820 0.6806 0.6906 0.5806 0.4002 0.67 0.61 0.7 0.55 0.71 rs7528153 . . . . . . . . . . . . . 0.616 0.054 T 0.566 0.366 P 0.338 0.405 B 0.000 0.559 D 0.001 0.460 P 1.235 0.309 L -0.26 0.672 T -0.16 0.095 N 0.024 0.098 -1.046 0.154 T 0.081 0.319 T . . . 1.178 0.208 11.63 0.919 0.206 0.907 0.519 D c -0.229 -0.073 0.003 0.099 0.615 0.372 0 4.5 0.542 0.851 0.272 0.964 0.580 1.000 0.715 1.000 0.888 6.565 0.216 Dbl homology (DH) domain . . 0.5839 0.6023 0.3841 0.6594 0.3859 0.6834 0.6941 0.6150 0.4017 0.6488 0.6072 0.4499 0.6424 0.3919 0.6716 0.7041 0.6847 hom 2907.40 112 1 108307727 . T A 2907.40 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.451;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.04;MQ0=0;MQRankSum=1.638;QD=25.96;ReadPosRankSum=1.482;VQSLOD=6.3501;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,110:112:99:2940,200,0 1 108313258 108313258 C T exonic VAV3 synonymous SNV VAV3:NM_006113:exon6:c.G648A:p.K216K 0.67 0.69 0.62 0.68 0.78 0.57 0.7279 0.7038 0.6205 0.6726 0.8044 0.7844 0.6932 0.5901 0.76 0.71 0.79 0.74 0.66 rs6583048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7253 0.7029 0.6239 0.7238 0.6758 0.8018 0.7876 0.7301 0.5888 0.7616 0.7060 0.6480 0.7152 0.6758 0.7898 0.8021 0.7883 hom 2543.42 84 1 108313258 . C T 2543.42 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=30.28;VQSLOD=9.1597;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2576,193,0 1 109268441 109268441 G A exonic FNDC7 nonsynonymous SNV FNDC7:NM_001144937:exon6:c.G926A:p.S309N 0.17 0.32 0.086 0.099 0.14 0.12 0.1478 0.3059 0.0681 0.0952 0.2148 0.1444 0.1490 0.1182 0.2 0.3 0.15 0.18 0.16 rs11582005 COSM4382630;COSM146569;COSM4382629 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.288 0.148 N 1 0.090 P -0.895 0.014 N 1.92 0.231 T -0.35 0.129 N 0.003 0.041 -1.021 0.235 T 0.012 0.047 T . . . -1.307 0.022 0.004 0.395 0.027 0.007 0.030 N c -1.808 -1.832 0.230 0.184 0.487 0.133 0 -8.02 0.010 -2.476 0.011 -1.081 0.019 0.000 0.063 0.942 0.416 14.254 0.654 Fibronectin type III . . 0.1445 0.3077 0.0726 0.1606 0.0975 0.2185 0.1434 0.1337 0.1156 0.2016 0.2984 0.0764 0.1391 0.1023 0.2129 0.1616 0.2037 het 3233.06 208 1 109268441 . G A 3233.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.166;DP=208;Dels=0.00;FS=2.763;HRun=1;HaplotypeScore=11.9534;MQ=58.57;MQ0=0;MQRankSum=1.044;QD=15.54;ReadPosRankSum=0.674;VQSLOD=3.3741;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,121:208:99:3262,0,2187 1 109268573 109268573 T C exonic FNDC7 nonsynonymous SNV FNDC7:NM_001144937:exon6:c.T1058C:p.V353A 0.59 0.8 0.53 0.23 0.71 0.61 0.6521 0.7941 0.5341 0.2349 0.6808 0.7104 0.6476 0.6170 0.74 0.79 0.71 0.59 0.77 rs4494160 COSM3996722;COSM3996723;COSM3996721 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.210 P -3.005 0.000 N 2.24 0.179 T 3.07 0.001 N 0.104 0.594 -0.956 0.400 T 0.004 0.012 T . . . 1.527 0.246 13.46 0.507 0.044 0.158 0.189 N c -0.664 -0.304 0.999 0.384 0.554 0.246 0 6.05 0.981 5.688 0.677 0.069 0.176 1.000 0.715 0.999 0.750 15.621 0.764 Fibronectin type III ENSG00000116266.6 Cells_Transformed_fibroblasts 0.6444 0.7985 0.5373 0.6501 0.2322 0.6801 0.7185 0.6490 0.6180 0.7164 0.7946 0.5776 0.6457 0.2515 0.6898 0.7368 0.7108 hom 7106.15 206 1 109268573 . T C 7106.15 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.463;DP=206;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4262;MQ=59.37;MQ0=0;MQRankSum=-1.160;QD=34.50;ReadPosRankSum=-0.404;VQSLOD=8.3924;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,205:206:99:7072,523,0 1 109273456 109273456 A G exonic FNDC7 synonymous SNV FNDC7:NM_001144937:exon9:c.A1785G:p.G595G 0.45 0.56 0.44 0.2 0.54 0.47 0.4934 0.5732 0.4565 0.2091 0.4980 0.5318 0.4835 0.4613 0.55 0.56 0.54 0.48 0.5 rs4970809 COSM4417133;COSM4417132;COSM4417134 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4898 0.5726 0.4540 0.4769 0.2069 0.4925 0.5405 0.5024 0.4620 0.5288 0.5747 0.4535 0.4833 0.2084 0.4880 0.5509 0.5357 het 2459.79 196 1 109273456 . A G 2459.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.150;DP=196;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5686;MQ=59.79;MQ0=0;MQRankSum=-2.074;QD=12.55;ReadPosRankSum=-0.008;VQSLOD=5.0215;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,95:196:99:2490,0,2696 1 109363232 109363232 T C exonic AKNAD1 synonymous SNV AKNAD1:NM_152763:exon14:c.A2184G:p.K728K 0.39 0.26 0.39 0.7 0.26 0.36 0.3105 0.2858 0.4178 0.7001 0.2754 0.2378 0.3029 0.3544 0.25 0.28 0.23 0.33 0.12 rs1333130 COSM5653794 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3171 0.2861 0.4135 0.3196 0.7037 0.2789 0.2310 0.3112 0.3528 0.2779 0.2823 0.3890 0.2980 0.7021 0.2806 0.2214 0.2898 het 1168.98 104 1 109363232 . T C 1168.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.338;DP=104;Dels=0.00;FS=5.062;HRun=0;HaplotypeScore=1.9916;MQ=58.57;MQ0=0;MQRankSum=1.808;QD=11.24;ReadPosRankSum=0.923;VQSLOD=5.1393;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,51:104:99:1199,0,1325 1 109369915 109369915 G T exonic AKNAD1 nonsynonymous SNV AKNAD1:NM_152763:exon11:c.C1848A:p.N616K 0.5 0.63 0.53 0.26 0.58 0.48 0.5516 0.6308 0.4883 0.2709 0.4921 0.6021 0.5608 0.5112 0.61 0.64 0.6 0.58 0.46 rs7551421 COSM3747466;COSM146571;COSM4383049 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);2(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.907 0.086 N 1 0.090 P 0 0.065 N 2.52 0.142 T -0.04 0.076 N 0.005 0.002 -0.973 0.365 T 0.002 0.006 T . . . -1.636 0.014 0.002 0.208 0.008 0.001 0.008 N c -2.157 -2.156 1.000 0.747 0.516 0.203 0 -7.42 0.012 -1.351 0.027 -1.461 0.011 0.000 0.063 0.077 0.179 2.307 0.039 . . . 0.5416 0.6298 0.4885 0.5279 0.2687 0.4934 0.6065 0.5335 0.5120 0.5803 0.6402 0.5290 0.5795 0.2536 0.5003 0.6040 0.5340 hom 5816.35 180 1 109369915 . G T 5816.35 Mask AC=2;AF=1.00;AN=2;DP=180;DS;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.5784;MQ=59.33;MQ0=0;QD=32.31;VQSLOD=9.2183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5816,454,0 1 109377070 109377070 C A exonic AKNAD1 nonsynonymous SNV AKNAD1:NM_152763:exon9:c.G1745T:p.G582V 0.13 0.21 0.095 0.12 0.11 0.09 0.1401 0.2170 0.1022 0.1391 0.1413 0.1407 0.1571 0.1107 0.14 0.19 0.11 0.15 0.11 rs12060255 . . . . . . . . . . . . . 0.075 0.371 T 0.396 0.377 B 0.1 0.299 B . . . 1.000 0.090 P 0.805 0.203 L 3.17 0.085 T -1.75 0.513 N 0.021 0.049 -0.958 0.395 T 0.008 0.029 T . . . 0.789 0.169 9.393 0.826 0.138 0.038 0.090 N c -0.826 -0.946 0.650 0.221 0.487 0.133 0 -0.038 0.131 1.155 0.311 0.636 0.291 0.021 0.196 0.064 0.173 2.583 0.045 . ENSG00000085433.11 Colon_Sigmoid 0.1101 0.1915 0.0830 0.1024 0.1189 0.1115 0.1120 0.1051 0.0919 0.1367 0.1904 0.0931 0.1026 0.1142 0.1194 0.1170 0.1061 het 114.45 19 1 109377070 . C A 114.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.798;DP=19;Dels=0.00;FS=2.017;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;MQRankSum=1.623;QD=6.02;ReadPosRankSum=-0.307;VQSLOD=4.4859;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:144,0,377 1 109395105 109395105 C T exonic AKNAD1 nonsynonymous SNV AKNAD1:NM_152763:exon2:c.G182A:p.S61N 0.87 0.88 0.88 0.94 0.79 0.85 0.8324 0.8719 0.8600 0.9383 0.8233 0.8097 0.8095 0.8295 0.83 0.87 0.82 0.83 0.8 rs1277207 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.050 0.020 N 1 0.090 P -1.59 0.004 N 3.24 0.070 T 0.15 0.054 N 0.014 0.003 -0.948 0.414 T 0.002 0.006 T . . . -1.284 0.023 0.005 0.353 0.022 0.003 0.016 N c -1.849 -1.828 1.000 0.467 0.497 0.185 0 -4.24 0.035 -0.070 0.114 -0.819 0.031 0.000 0.063 0.000 0.016 6.609 0.218 . ENSG00000121940.11|ENSG00000121940.11|ENSG00000121957.8|ENSG00000085433.11|ENSG00000162641.14|ENSG00000203897.3 Artery_Aorta|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Testis|Testis 0.8336 0.8724 0.8539 0.8330 0.9378 0.8227 0.8105 0.8273 0.8270 0.8363 0.8698 0.8377 0.8377 0.9506 0.8088 0.8124 0.8108 het 2123.44 164 1 109395105 . C T 2123.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.886;DP=164;Dels=0.00;FS=0.590;HRun=1;HaplotypeScore=6.9197;MQ=58.44;MQ0=0;MQRankSum=1.057;QD=12.95;ReadPosRankSum=0.610;VQSLOD=4.9906;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,81:164:99:2153,0,2103 1 109440215 109440215 G A exonic GPSM2 nonsynonymous SNV GPSM2:NM_001321038:exon4:c.G380A:p.R127Q,GPSM2:NM_001321039:exon4:c.G380A:p.R127Q,GPSM2:NM_013296:exon4:c.G380A:p.R127Q 0.069 0.12 0.045 0.002 0.098 0.053 0.0865 0.0981 0.0356 0.0002 0.1107 0.1059 0.1093 0.0701 0.098 0.098 0.098 0.11 0.11 rs41279678 COSM3750209 1(pancreas);1(large_intestine) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038784.4|RCV000398884.1 MedGen|MedGen CN169374|CN239439 . . . . . . 0.055 0.384 T 0.933 0.501 P 0.242 0.370 B 0.000 0.629 D 1e-37 0.810 P 1.06 0.271 L -3.35 0.940 D -3.91 0.736 D 0.255 0.416 0.103 0.842 D 0.586 0.852 D . . . 5.361 0.726 25.9 0.999 0.996 0.985 0.836 D c 0.178 0.236 1.000 0.747 0.706 0.609 0 5.01 0.663 8.159 0.895 1.048 0.713 1.000 0.715 0.998 0.697 16.513 0.841 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain ENSG00000121957.8|ENSG00000121957.8|ENSG00000162641.14|ENSG00000203897.3 Esophagus_Mucosa|Lung|Testis|Testis 0.0838 0.0995 0.0429 0.1059 0.0002 0.1126 0.1025 0.0965 0.0697 0.0971 0.0920 0.0576 0.1093 0 0.1206 0.1068 0.1010 het 952.92 80 1 109440215 . G A 952.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.844;DP=80;Dels=0.00;FS=1.843;HRun=1;HaplotypeScore=3.5441;MQ=60.00;MQ0=0;MQRankSum=1.246;QD=11.91;ReadPosRankSum=-0.043;VQSLOD=5.5147;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:983,0,1000 1 109465166 109465168 CTT - exonic GPSM2 nonframeshift deletion GPSM2:NM_001321038:exon13:c.1568_1570del:p.S525del,GPSM2:NM_001321039:exon13:c.1568_1570del:p.S525del,GPSM2:NM_013296:exon13:c.1568_1570del:p.S525del . . . . . . 0.2907 0.5753 0.2234 0.0573 0.3070 0.2929 0.3172 0.2644 0.38 0.56 0.28 . . rs374875864 COSM5713033 1(large_intestine);2(central_nervous_system) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000218159.2|RCV000270361.1 MedGen|MedGen CN169374|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2829 0.5772 0.2294 0.3494 0.0576 0.3049 0.2870 0.2907 0.2673 0.3574 0.5663 0.2584 0.3267 0.0448 0.3131 0.2903 0.2982 het 3943.36 179 1 109465165 . ACTT A 3943.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.349;DP=179;FS=0.000;HRun=0;HaplotypeScore=716.4651;MQ=57.31;MQ0=0;MQRankSum=0.992;QD=22.03;ReadPosRankSum=0.805;set=variant2 GT:AD:DP:GQ:PL 0/1:87,92:179:99:3943,0,4274 1 109479978 109479978 G T exonic CLCC1 nonsynonymous SNV CLCC1:NM_001278203:exon5:c.C549A:p.S183R,CLCC1:NM_001278202:exon7:c.C741A:p.S247R,CLCC1:NM_001048210:exon10:c.C1104A:p.S368R,CLCC1:NM_015127:exon10:c.C954A:p.S318R 0.31 0.62 0.21 0.038 0.28 0.25 0.2782 0.5754 0.2190 0.0372 0.2875 0.2772 0.3013 0.2594 0.37 0.56 0.27 0.29 0.3 rs168107 COSM3750211;COSM3750210 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.102 B 0.001 0.063 B 0.001 0.434 N 0.998 0.224 P -2.15 0.001 N 0.99 0.418 T 2.03 0.004 N 0.037 0.017 -0.937 0.431 T 0.006 0.021 T . . . -0.320 0.067 0.598 0.581 0.058 0.032 0.081 N c -1.408 -1.223 0.002 0.093 0.707 0.730 0 1.71 0.233 0.426 0.209 0.152 0.238 0.529 0.269 0.553 0.280 8.446 0.318 . ENSG00000121940.11|ENSG00000121940.11|ENSG00000121957.8|ENSG00000085433.11|ENSG00000162641.14 Artery_Tibial|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Testis 0.2697 0.5736 0.2245 0.3647 0.0367 0.2849 0.2685 0.2788 0.2608 0.3480 0.5665 0.2530 0.3433 0.0216 0.2942 0.2780 0.2914 het 1091.91 82 1 109479978 . G T 1091.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.423;DP=82;Dels=0.00;FS=9.882;HRun=0;HaplotypeScore=3.5151;MQ=58.95;MQ0=0;MQRankSum=-0.166;QD=13.32;ReadPosRankSum=-0.547;VQSLOD=4.7503;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,45:82:99:1122,0,898 1 109486196 109486196 A G exonic CLCC1 synonymous SNV CLCC1:NM_001048210:exon6:c.T603C:p.T201T,CLCC1:NM_015127:exon6:c.T453C:p.T151T 0.54 0.76 0.51 0.4 0.52 0.43 0.5287 0.7259 0.5585 0.4057 0.4854 0.5305 0.5430 0.4572 0.59 0.73 0.53 0.53 0.54 rs338466 COSM3747467;COSM3747468;COSM3747469 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5258 0.7271 0.5616 0.5655 0.4097 0.4831 0.5281 0.5336 0.4602 0.5760 0.7238 0.5803 0.5795 0.3975 0.4871 0.5339 0.5143 het 1854.61 154 1 109486196 . A G 1854.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.589;DP=154;Dels=0.00;FS=0.599;HRun=1;HaplotypeScore=5.8565;MQ=59.90;MQ0=0;MQRankSum=0.224;QD=12.04;ReadPosRankSum=-0.885;VQSLOD=4.7307;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,78:154:99:1885,0,1934 1 109656946 109656946 T C exonic KIAA1324 synonymous SNV KIAA1324:NM_001267048:exon1:c.T141C:p.H47H,KIAA1324:NM_020775:exon1:c.T141C:p.H47H 0.54 0.75 0.48 0.48 0.37 0.51 0.5048 0.7197 0.5827 0.5309 0.5029 0.4440 0.452 0.5167 0.47 0.67 0.36 0.53 0.16 rs667524 COSM3750212 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4284 0.7039 0.4938 0.4129 0.4753 0.3957 0.3584 0.4055 0.4765 0.4672 0.6905 0.4796 0.4338 0.4907 0.3771 0.3606 0.3953 het 132.24 24 1 109656946 . T C 132.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.699;DP=24;Dels=0.00;FS=2.035;HRun=0;HaplotypeScore=1.4972;MQ=59.03;MQ0=0;MQRankSum=0.889;QD=5.51;ReadPosRankSum=1.207;VQSLOD=4.2484;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,7:24:99:162,0,447 1 109704618 109704618 A G exonic KIAA1324 nonsynonymous SNV KIAA1324:NM_001267048:exon2:c.A256G:p.I86V,KIAA1324:NM_020775:exon2:c.A256G:p.I86V 1. 0.98 1. 1. 1. 1. 0.9987 0.9868 0.9995 0.9986 1 1.0000 1 1 1. 0.99 1. 1. 1. rs678238 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.991 0.258 P -1.53 0.005 N 1.24 0.411 T 0.79 0.023 N 0.14 0.270 -0.992 0.322 T 0.009 0.032 T . . . 1.286 0.219 12.20 0.843 0.147 0.202 0.208 N c -0.754 -0.421 1.000 0.747 0.616 0.391 0 5.55 0.832 3.325 0.515 0.138 0.222 1.000 0.715 0.970 0.461 11.459 0.493 . . . 0.9989 0.9859 0.9994 1 0.9985 1 1.0000 0.9989 1.0000 0.9959 0.9859 1 1 0.9981 1 1 0.9990 hom 2815.16 84 1 109704618 . A G 2815.16 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9661;MQ=59.73;MQ0=0;QD=33.51;VQSLOD=9.8089;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2848,232,0 1 109735298 109735298 T C exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon7:c.T735C:p.G245G,KIAA1324:NM_001267048:exon12:c.T1488C:p.G496G,KIAA1324:NM_001284352:exon13:c.T1443C:p.G481G,KIAA1324:NM_020775:exon14:c.T1749C:p.G583G 0.74 0.36 0.81 1. 0.76 0.93 0.7832 0.4133 0.8772 0.9992 0.8412 0.7595 0.8007 0.9089 0.64 0.41 0.75 0.69 0.73 rs658779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7896 0.4080 0.8542 0.7038 0.9991 0.8372 0.7569 0.7748 0.9053 0.6880 0.4150 0.8165 0.7185 0.9981 0.8290 0.7664 0.7684 hom 7754.43 250 1 109735298 . T C 7754.43 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.90;MQ0=0;QD=31.02;VQSLOD=9.3960;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7753,647,0 1 109735416 109735416 A C exonic KIAA1324 nonsynonymous SNV KIAA1324:NM_001284353:exon7:c.A853C:p.T285P,KIAA1324:NM_001267048:exon12:c.A1606C:p.T536P,KIAA1324:NM_001284352:exon13:c.A1561C:p.T521P,KIAA1324:NM_020775:exon14:c.A1867C:p.T623P 0.74 0.36 0.81 1. 0.76 0.93 0.7829 0.4139 0.8775 0.9975 0.8412 0.7595 0.8002 0.9060 0.64 0.41 0.75 0.7 0.72 rs659543 COSM4142096 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.368 0.136 N 1 0.090 P -1.865 0.003 N 0.05 0.619 T 3.25 0.001 N 0.025 0.475 -0.993 0.318 T 0.009 0.034 T . . . -2.411 0.004 0.001 0.060 0.000 0.009 0.034 N c -1.949 -1.902 1.000 0.747 0.534 0.214 0 -7.86 0.010 -1.509 0.024 -3.568 0.001 0.000 0.063 0.006 0.095 1.863 0.030 Growth factor receptor cysteine-rich domain . . 0.7893 0.4082 0.8542 0.7040 0.9973 0.8371 0.7569 0.7745 0.9026 0.6880 0.4151 0.8174 0.7233 0.9981 0.8286 0.7662 0.7720 hom 7651.56 230 1 109735416 . A C 7651.56 Mask AC=2;AF=1.00;AN=2;DP=230;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.4181;MQ=60.37;MQ0=0;QD=33.27;VQSLOD=6.8496;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7651,602,0 1 109737063 109737063 C T exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.C954T:p.N318N,KIAA1324:NM_001267048:exon13:c.C1707T:p.N569N,KIAA1324:NM_001284352:exon14:c.C1662T:p.N554N,KIAA1324:NM_020775:exon15:c.C1968T:p.N656N 0.71 0.3 0.8 0.97 0.76 0.89 0.7772 0.3678 0.8761 0.9731 0.8456 0.7673 0.7963 0.8747 0.63 0.37 0.76 0.67 0.75 rs2359246 COSM5618807 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7850 0.3642 0.8534 0.7075 0.9704 0.8413 0.7658 0.7730 0.8721 0.6790 0.3742 0.8146 0.7267 0.9710 0.8329 0.7748 0.7653 hom 3415.32 110 1 109737063 . C T 3415.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.637;DP=110;Dels=0.00;FS=4.125;HRun=0;HaplotypeScore=3.9602;MQ=59.37;MQ0=0;MQRankSum=1.637;QD=31.05;ReadPosRankSum=1.541;VQSLOD=4.3044;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,108:110:99:3366,244,0 1 109737090 109737090 G A exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.G981A:p.P327P,KIAA1324:NM_001267048:exon13:c.G1734A:p.P578P,KIAA1324:NM_001284352:exon14:c.G1689A:p.P563P,KIAA1324:NM_020775:exon15:c.G1995A:p.P665P 0.72 0.31 0.8 0.97 0.76 0.89 0.7772 0.3691 0.8757 0.9728 0.8456 0.7673 0.7936 0.8742 0.63 0.37 0.76 0.67 0.75 rs2359245 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7849 0.3645 0.8530 0.7073 0.9703 0.8411 0.7657 0.7728 0.8717 0.6798 0.3761 0.8177 0.7282 0.9710 0.8329 0.7749 0.7663 hom 4476.54 140 1 109737090 . G A 4476.54 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3036;MQ=59.50;MQ0=0;QD=31.98;VQSLOD=9.4637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4476,346,0 1 109737132 109737132 T C exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.T1023C:p.T341T,KIAA1324:NM_001267048:exon13:c.T1776C:p.T592T,KIAA1324:NM_001284352:exon14:c.T1731C:p.T577T,KIAA1324:NM_020775:exon15:c.T2037C:p.T679T 0.77 0.47 0.81 0.97 0.77 0.93 0.7948 0.4916 0.8828 0.9731 0.8456 0.7693 0.8024 0.9129 0.67 0.49 0.76 0.74 0.75 rs2359244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7996 0.4875 0.8610 0.7172 0.9706 0.8411 0.7672 0.7830 0.9092 0.7149 0.4956 0.8278 0.7333 0.9723 0.8329 0.7761 0.7802 hom 4776.22 153 1 109737132 . T C 4776.22 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.228;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7537;MQ=59.30;MQ0=0;MQRankSum=0.820;QD=31.22;ReadPosRankSum=1.436;VQSLOD=8.3197;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,152:153:99:4738,348,0 1 109737172 109737172 C T exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.C1063T:p.L355L,KIAA1324:NM_001267048:exon13:c.C1816T:p.L606L,KIAA1324:NM_001284352:exon14:c.C1771T:p.L591L,KIAA1324:NM_020775:exon15:c.C2077T:p.L693L 0.71 0.3 0.8 0.97 0.76 0.89 0.7772 0.3680 0.8762 0.9731 0.8456 0.7673 0.7941 0.8745 0.63 0.37 0.76 0.69 0.74 rs2359243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7850 0.3644 0.8532 0.7073 0.9703 0.8411 0.7657 0.7730 0.8718 0.6792 0.3745 0.8138 0.72 0.9716 0.8329 0.7748 0.7679 hom 4795.06 157 1 109737172 . C T 4795.06 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.34;MQ0=0;QD=30.54;VQSLOD=9.1618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:157:99:4759,373,0 1 109742485 109742485 G A exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon12:c.G1497A:p.S499S,KIAA1324:NM_001267048:exon17:c.G2250A:p.S750S,KIAA1324:NM_001284352:exon18:c.G2205A:p.S735S,KIAA1324:NM_020775:exon19:c.G2511A:p.S837S 0.76 0.47 0.81 0.96 0.79 0.88 0.8024 0.5159 0.8632 0.9676 0.8542 0.7935 0.8062 0.8684 0.7 0.52 0.79 0.78 0.75 rs913179 COSM3748989 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8061 0.5123 0.8508 0.6770 0.9687 0.8499 0.7950 0.7870 0.8664 0.7340 0.5168 0.7995 0.7086 0.9802 0.8434 0.8007 0.7982 hom 4209.28 134 1 109742485 . G A 4209.28 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3123;MQ=59.54;MQ0=0;QD=31.41;VQSLOD=9.5707;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4209,319,0 1 109745618 109745618 T C exonic KIAA1324 nonsynonymous SNV KIAA1324:NM_001284353:exon15:c.T2012C:p.L671P,KIAA1324:NM_001267048:exon20:c.T2765C:p.L922P,KIAA1324:NM_020775:exon22:c.T3026C:p.L1009P 0.89 0.78 0.9 0.96 0.9 0.95 0.9056 0.7663 0.9278 0.9682 0.9406 0.8994 0.9031 0.9565 0.85 0.76 0.9 0.92 0.87 rs1052878 COSM4142097 1(thyroid) . . . . . . . . . . . 0.317 0.137 T 0.0 0.026 B 0.0 0.013 B 0.044 0.237 N 0.557 0.313 P -0.69 0.019 N 2.72 0.120 T 1.72 0.006 N 0.03 0.146 -0.965 0.382 T 0.006 0.022 T . . . 2.870 0.406 21.7 0.896 0.184 0.075 0.134 N c -0.573 -0.384 1.000 0.410 0.615 0.372 0 4.26 0.497 1.126 0.307 0.067 0.174 0.778 0.292 0.995 0.604 5.679 0.169 . ENSG00000143126.7 Testis 0.9071 0.7611 0.9216 0.8272 0.9694 0.9375 0.9015 0.8974 0.9548 0.8663 0.7524 0.8906 0.8411 0.9815 0.9322 0.9021 0.8929 hom 5133.54 160 1 109745618 . T C 5133.54 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.6282;MQ=59.51;MQ0=0;QD=32.08;VQSLOD=3.5578;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5133,391,0 1 109792735 109792735 - CGC exonic CELSR2 nonframeshift insertion CELSR2:NM_001408:exon1:c.34_35insCGC:p.P16_L17insP 0.57 0.42 0.63 0.53 0.73 0.6 0.6876 0.5382 0.6627 0.5845 0.7088 0.7277 0.7437 0.6592 0.62 0.49 0.69 . . rs59201433 COSM4603476 2(stomach);13(upper_aerodigestive_tract);6(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6380 0.4524 0.6096 0.7169 0.5004 0.6521 0.6899 0.6754 0.6071 0.6269 0.4917 0.6716 0.7770 0.5069 0.6779 0.7002 0.6593 het 353.62 12 1 109792735 . A ACGC 353.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.377;DP=12;FS=0.000;HRun=0;HaplotypeScore=37.4663;MQ=59.78;MQ0=0;MQRankSum=0.382;QD=29.47;ReadPosRankSum=-0.978;set=variant2 GT:AD:DP:GQ:PL 0/1:6,6:12:98.72:393,0,99 1 109794252 109794252 T C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon1:c.T1551C:p.S517S 0.9 0.72 0.96 1. 0.97 0.94 0.9466 0.7578 0.9768 0.9993 0.9527 0.9632 0.9702 0.9458 0.9 0.78 0.96 0.86 0.98 rs454107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9498 0.7512 0.9717 0.9312 0.9995 0.9521 0.9644 0.9579 0.9468 0.9072 0.7618 0.9653 0.9371 0.9988 0.9473 0.9661 0.9470 hom 6170.03 202 1 109794252 . T C 6170.03 Mask AC=2;AF=1.00;AN=2;DP=202;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5149;MQ=59.42;MQ0=0;QD=30.54;VQSLOD=9.0516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,201:202:99:6169,520,0 1 109795026 109795026 T C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon1:c.T2325C:p.Y775Y 0.9 0.72 0.96 1. 0.97 0.94 0.9466 0.7578 0.9764 0.9993 0.9527 0.9631 0.9701 0.9462 0.9 0.78 0.96 0.86 0.98 rs413380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9498 0.7508 0.9716 0.9312 0.9996 0.9523 0.9643 0.9577 0.9471 0.9073 0.7622 0.9642 0.9371 0.9988 0.9470 0.9660 0.9470 hom 3068.91 95 1 109795026 . T C 3068.91 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=32.30;VQSLOD=9.9544;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3102,253,0 1 109795608 109795608 T C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon1:c.T2907C:p.F969F 0.91 0.76 0.97 1. 0.97 0.94 0.9505 0.8014 0.9779 0.9993 0.9527 0.9632 0.9690 0.9468 0.91 0.82 0.96 0.87 0.9 rs437444 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9527 0.7955 0.9725 0.9313 0.9996 0.9520 0.9644 0.9582 0.9473 0.9199 0.8060 0.9678 0.9371 0.9988 0.9475 0.9660 0.9511 hom 6649.44 203 1 109795608 . T C 6649.44 Mask AC=2;AF=1.00;AN=2;DP=203;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7362;MQ=59.22;MQ0=0;QD=32.76;VQSLOD=7.8816;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6649,518,0 1 109806834 109806834 C T exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon10:c.C5136T:p.P1712P 0.35 0.076 0.47 0.5 0.48 0.37 0.4312 0.1271 0.5141 0.4711 0.4371 0.4645 0.4787 0.3983 0.35 0.13 0.47 0.36 0.43 rs6698843 COSM3750214 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4377 0.1180 0.4984 0.5001 0.4686 0.4426 0.4612 0.4645 0.3986 0.3569 0.1272 0.4952 0.4636 0.4603 0.4289 0.4495 0.4078 het 1092.12 80 1 109806834 . C T 1092.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.739;DP=80;Dels=0.00;FS=18.228;HRun=0;HaplotypeScore=3.4306;MQ=58.77;MQ0=0;MQRankSum=0.382;QD=13.65;ReadPosRankSum=1.596;VQSLOD=2.7490;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:1122,0,1025 1 109807099 109807099 G A exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon11:c.G5313A:p.P1771P 0.35 0.076 0.47 0.5 0.48 0.37 0.4286 0.1235 0.5120 0.4701 0.4360 0.4625 0.4736 0.3978 0.35 0.13 0.47 0.36 0.55 rs6689614 COSM1178398 1(liver);1(prostate);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4365 0.1172 0.4972 0.4998 0.4682 0.4398 0.4602 0.4634 0.3981 0.3565 0.1270 0.4928 0.4633 0.4628 0.4287 0.4491 0.4062 het 3006.78 198 1 109807099 . G A 3006.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.791;DP=198;Dels=0.00;FS=3.046;HRun=0;HaplotypeScore=9.6130;MQ=58.79;MQ0=0;MQRankSum=-2.263;QD=15.19;ReadPosRankSum=0.279;VQSLOD=2.7849;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,108:198:99:3037,0,2342 1 109810183 109810183 C T exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon16:c.C6027T:p.R2009R 0.035 0.0023 0.045 0.001 0.081 0.061 0.0493 0.0092 0.0278 0.0003 0.0893 0.0580 0.0640 0.0631 0.04 0.012 0.054 . 0.082 rs61761209 COSM3747472 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0491 0.0081 0.0282 0.0757 0.0003 0.0810 0.0558 0.0551 0.0623 0.0420 0.0124 0.0358 0.0662 0 0.0753 0.0552 0.0511 het 1471.43 131 1 109810183 . C T 1471.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.686;DP=131;Dels=0.00;FS=1.417;HRun=0;HaplotypeScore=7.4296;MQ=58.90;MQ0=0;MQRankSum=-0.936;QD=11.23;ReadPosRankSum=0.259;VQSLOD=3.7424;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,60:131:99:1501,0,1687 1 109810544 109810544 C A exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon17:c.C6180A:p.R2060R 0.23 0.054 0.22 0.42 0.19 0.3 0.2156 0.0711 0.2016 0.4352 0.2478 0.1941 0.2018 0.2700 0.15 0.071 0.19 0.16 0.11 rs2281894 COSM3750215 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2155 0.0661 0.1997 0.1742 0.4390 0.2343 0.1915 0.2009 0.2708 0.1867 0.0757 0.1878 0.1689 0.4474 0.2363 0.2089 0.2327 het 751.49 69 1 109810544 . C A 751.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.299;DP=69;Dels=0.00;FS=1.973;HRun=2;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=1.791;QD=10.89;ReadPosRankSum=-0.380;VQSLOD=5.8289;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,31:69:99:781,0,1106 1 109816176 109816176 A C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon33:c.A8628C:p.G2876G 0.97 0.89 0.99 1. 1. 1. 0.9935 0.9165 0.9967 1 1 0.9998 0.9956 0.9996 0.98 0.93 1. 0.94 0.31 rs441853 COSM4142101 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9945 0.9104 0.9965 1 1 0.9999 0.9997 0.9974 0.9998 0.9761 0.9168 0.9940 1 1 1 0.9999 0.9928 hom 301.46 13 1 109816176 . A C 301.46 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=23.19;VQSLOD=7.1270;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:33.03:334,33,0 1 109824250 109824250 G A exonic PSRC1 synonymous SNV PSRC1:NM_001350237:exon3:c.C510T:p.N170N,PSRC1:NM_001005290:exon4:c.C510T:p.N170N,PSRC1:NM_001032291:exon4:c.C510T:p.N170N,PSRC1:NM_001350238:exon4:c.C510T:p.N170N,PSRC1:NM_001350239:exon4:c.C510T:p.N170N,PSRC1:NM_001350240:exon4:c.C510T:p.N170N,PSRC1:NM_001350241:exon4:c.C510T:p.N170N,PSRC1:NM_001350242:exon4:c.C510T:p.N170N,PSRC1:NM_032636:exon4:c.C510T:p.N170N 0.043 0.017 0.03 0.031 0.084 0.057 0.0684 0.0247 0.0203 0.0366 0.1332 0.0847 0.0719 0.0535 0.058 0.026 0.074 0.033 0.025 rs35358959 COSM3996729;COSM3996730 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0639 0.0224 0.0205 0.0299 0.0383 0.1217 0.0829 0.0640 0.0466 0.0727 0.0246 0.0227 0.0298 0.0358 0.1234 0.0946 0.1037 het 2303.04 180 1 109824250 . G A 2303.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.785;DP=180;Dels=0.00;FS=2.676;HRun=0;HaplotypeScore=5.0480;MQ=59.20;MQ0=0;MQRankSum=-0.366;QD=12.79;ReadPosRankSum=-1.817;VQSLOD=4.5297;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,97:180:99:2333,0,2193 1 109838918 109838918 C T exonic MYBPHL nonsynonymous SNV MYBPHL:NM_001010985:exon6:c.G805A:p.D269N,MYBPHL:NM_001265613:exon6:c.G736A:p.D246N 0.87 0.66 0.95 1. 0.93 0.94 0.9219 0.6974 0.9609 0.9999 0.9624 0.9295 0.9427 0.9474 0.86 0.71 0.93 0.88 0.92 rs629001 . . . . . . . . . . . . . 0.643 0.049 T 0.01 0.144 B 0.012 0.149 B . . . 0.008 0.415 P 1.075 0.273 L -0.81 0.740 T -1.76 0.416 N 0.019 0.013 -1.093 0.051 T 0.102 0.377 T . . . 3.437 0.471 23.0 0.960 0.279 0.909 0.521 D c -0.320 -0.146 1.000 0.747 0.534 0.214 0 3.27 0.364 2.958 0.486 0.935 0.490 0.992 0.373 0.999 0.750 8.025 0.294 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143028.7|ENSG00000143028.7|ENSG00000143028.7|ENSG00000143028.7 Artery_Aorta|Artery_Tibial|Heart_Atrial_Appendage|Thyroid 0.9289 0.6932 0.9592 0.9340 0.9996 0.9597 0.9292 0.9305 0.9478 0.8765 0.7097 0.9511 0.9205 1 0.9544 0.9334 0.9276 hom 4258.19 142 1 109838918 . C T 4258.19 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.57;MQ0=0;QD=29.99;VQSLOD=8.7441;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4258,325,0 1 109839433 109839433 A G exonic MYBPHL synonymous SNV MYBPHL:NM_001010985:exon5:c.T702C:p.T234T,MYBPHL:NM_001265613:exon5:c.T633C:p.T211T 0.93 0.73 0.97 1. 1. 1. 0.9780 0.7617 0.9908 1 1 0.9989 0.9901 0.9996 0.92 0.78 1. 0.94 1. rs1278285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9827 0.7582 0.9899 0.9965 1 1 0.9990 0.9887 0.9997 0.9365 0.7800 0.9857 1 1 1 0.9985 0.9868 hom 4054.79 127 1 109839433 . A G 4054.79 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.49;MQ0=0;QD=31.93;VQSLOD=9.6456;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4055,307,0 1 109884775 109884775 T G exonic SORT1 synonymous SNV SORT1:NM_001205228:exon9:c.A558C:p.T186T,SORT1:NM_002959:exon9:c.A969C:p.T323T 0.69 0.36 0.83 0.96 0.71 0.72 0.7290 0.4120 0.8822 0.9611 0.7064 0.7244 0.7759 0.7241 0.62 0.42 0.73 0.64 0.79 rs2228604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7416 0.4017 0.8680 0.8372 0.9564 0.7127 0.7164 0.7646 0.7300 0.6346 0.4096 0.8421 0.7980 0.9494 0.6956 0.6976 0.7 het 1106.66 64 1 109884775 . T G 1106.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.267;DP=64;Dels=0.00;FS=6.341;HRun=1;HaplotypeScore=1.9782;MQ=60.00;MQ0=0;MQRankSum=-0.159;QD=17.29;ReadPosRankSum=-0.908;VQSLOD=4.8250;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,40:64:99:1137,0,696 1 109897100 109897100 T C exonic SORT1 synonymous SNV SORT1:NM_001205228:exon5:c.A189G:p.R63R,SORT1:NM_002959:exon5:c.A597G:p.R199R 0.034 0.033 0.014 0.002 0.054 0.064 0.0510 0.0458 0.0124 0.0015 0.0786 0.0596 0.0441 0.0621 0.052 0.047 0.055 0.065 0.025 rs72646560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0475 0.0443 0.0137 0.0152 0.0014 0.0719 0.0609 0.0403 0.0567 0.0600 0.0476 0.0167 0.0132 0.0031 0.0738 0.0716 0.0867 het 2256.79 162 1 109897100 . T C 2256.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.350;DP=162;Dels=0.00;FS=0.583;HRun=1;HaplotypeScore=1.8924;MQ=59.07;MQ0=0;MQRankSum=-0.844;QD=13.93;ReadPosRankSum=-0.171;VQSLOD=5.6366;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,83:162:99:2287,0,1969 1 109897103 109897103 A G exonic SORT1 synonymous SNV SORT1:NM_001205228:exon5:c.T186C:p.F62F,SORT1:NM_002959:exon5:c.T594C:p.F198F 0.78 0.69 0.85 0.96 0.71 0.72 0.7532 0.6799 0.8919 0.9612 0.7055 0.7251 0.7863 0.7243 0.71 0.67 0.73 0.75 0.8 rs11142 COSM1332444 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7615 0.6796 0.8801 0.8430 0.9565 0.7124 0.7174 0.7750 0.7304 0.7117 0.6789 0.8568 0.8046 0.9494 0.6950 0.6987 0.7147 het 2045.09 167 1 109897103 . A G 2045.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.379;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.10;MQ0=0;MQRankSum=0.168;QD=12.25;ReadPosRankSum=0.669;VQSLOD=6.8444;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,79:167:99:2075,0,2303 1 110019439 110019439 A G exonic SYPL2 nonsynonymous SNV SYPL2:NM_001040709:exon4:c.A296G:p.E99G 0.03 0.014 0.016 0.002 0.055 0.065 0.0515 0.0272 0.0120 0.0015 0.0801 0.0629 0.0448 0.0625 0.047 0.027 0.057 0.054 0.025 rs62623713 . . . . . . . . . . . . . 0.575 0.061 T 0.005 0.119 B 0.011 0.145 B 0.677 0.061 N 1 0.090 N -0.345 0.033 N 1.45 0.325 T 1.26 0.010 N 0.043 0.028 -0.953 0.405 T 0.011 0.042 T . . . 0.424 0.135 6.823 0.951 0.257 0.112 0.163 N c -0.992 -0.892 0.989 0.315 0.657 0.484 0 3.32 0.370 0.857 0.273 1.199 0.960 0.008 0.178 0.615 0.291 7.140 0.246 Marvel domain ENSG00000162650.11 Artery_Tibial 0.0479 0.0268 0.0131 0.0180 0.0014 0.0727 0.0640 0.0416 0.0569 0.0552 0.0268 0.0167 0.0166 0.0031 0.0739 0.0741 0.0845 het 1061.44 85 1 110019439 . A G 1061.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.343;DP=85;Dels=0.00;FS=4.378;HRun=1;HaplotypeScore=2.2329;MQ=59.67;MQ0=0;MQRankSum=0.369;QD=12.49;ReadPosRankSum=-0.784;VQSLOD=5.8358;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:1091,0,1264 1 110086451 110086451 G A exonic GPR61 synonymous SNV GPR61:NM_031936:exon2:c.G807A:p.S269S 0.22 0.11 0.14 0.36 0.17 0.3 0.2084 0.1209 0.1829 0.3577 0.2002 0.1908 0.2146 0.2747 0.17 0.12 0.2 0.2 0.21 rs17575798 COSM3996733 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2071 0.1157 0.1784 0.2336 0.3505 0.1999 0.1871 0.1925 0.2752 0.1816 0.1156 0.1981 0.2550 0.3395 0.2018 0.1944 0.2049 het 1195.36 81 1 110086451 . G A 1195.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.544;DP=81;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=2.7603;MQ=58.71;MQ0=0;MQRankSum=-0.165;QD=14.76;ReadPosRankSum=-0.535;VQSLOD=5.8400;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,40:81:99:1225,0,953 1 110170896 110170896 T C exonic AMPD2 synonymous SNV AMPD2:NM_203404:exon8:c.T1077C:p.H359H,AMPD2:NM_001308170:exon9:c.T1209C:p.H403H,AMPD2:NM_001257361:exon10:c.T1080C:p.H360H,AMPD2:NM_004037:exon10:c.T1434C:p.H478H,AMPD2:NM_139156:exon10:c.T1191C:p.H397H,AMPD2:NM_001257360:exon11:c.T1434C:p.H478H 0.81 0.73 0.77 0.98 0.68 0.89 0.7353 0.7542 0.7925 0.9820 0.7213 0.6604 0.7671 0.8604 0.68 0.76 0.65 0.8 0.68 rs863978 COSM4142109;COSM4142108 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7358 0.7600 0.7872 0.6883 0.9809 0.7196 0.6527 0.7284 0.8587 0.7062 0.7566 0.7734 0.6755 0.9815 0.7034 0.6432 0.7290 het 827.39 68 1 110170896 . T C 827.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.677;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9142;MQ=59.11;MQ0=0;MQRankSum=1.428;QD=12.17;ReadPosRankSum=0.296;VQSLOD=6.5198;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:857,0,1091 1 110295772 110295772 T C exonic EPS8L3 synonymous SNV EPS8L3:NM_001319952:exon12:c.A1068G:p.S356S,EPS8L3:NM_024526:exon13:c.A1167G:p.S389S,EPS8L3:NM_133181:exon13:c.A1167G:p.S389S,EPS8L3:NM_139053:exon13:c.A1170G:p.S390S 0.77 0.91 0.68 0.86 0.58 0.74 0.6614 0.8779 0.6693 0.8389 0.5654 0.5986 0.5982 0.7224 0.69 0.87 0.6 0.73 0.61 rs1887547 COSM3750218 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6537 0.8817 0.6707 0.5677 0.8393 0.5640 0.5983 0.6040 0.7199 0.6987 0.8800 0.6271 0.5563 0.8435 0.5673 0.6181 0.6541 hom 2690.14 96 1 110295772 . T C 2690.14 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.0316;MQ=58.73;MQ0=0;QD=28.02;VQSLOD=7.9862;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:96:99:2723,211,0 1 110300441 110300441 G A exonic EPS8L3 nonsynonymous SNV EPS8L3:NM_001319952:exon9:c.C778T:p.H260Y,EPS8L3:NM_024526:exon10:c.C877T:p.H293Y,EPS8L3:NM_133181:exon10:c.C877T:p.H293Y,EPS8L3:NM_139053:exon10:c.C880T:p.H294Y 0.47 0.16 0.44 0.79 0.47 0.6 0.4843 0.2158 0.4225 0.7775 0.4062 0.4853 0.4591 0.5720 0.4 0.23 0.49 0.35 0.41 rs3818562 COSM3747492 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.031 T 0.0 0.026 B 0.0 0.013 B 0.002 0.364 N 1 0.090 P -1.21 0.008 N 2.76 0.571 T 1.5 0.010 N 0.029 0.147 -0.962 0.387 T 0.012 0.046 T . . . 0.533 0.145 7.679 0.797 0.124 0.024 0.068 N c -0.976 -0.695 0.861 0.252 0.428 0.059 0 2.69 0.308 1.322 0.331 0.244 0.267 1.000 0.715 0.998 0.697 8.934 0.347 . ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000134202.6|ENSG00000134202.6 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Thyroid|Whole_Blood 0.4850 0.2121 0.4271 0.4956 0.7748 0.4026 0.4871 0.4619 0.5745 0.4224 0.2206 0.3950 0.4967 0.7763 0.4110 0.5012 0.4723 hom 4340.92 149 1 110300441 . G A 4340.92 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=29.13;VQSLOD=8.7277;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4340,346,0 1 110301260 110301260 C T exonic EPS8L3 nonsynonymous SNV EPS8L3:NM_001319952:exon6:c.G388A:p.G130S,EPS8L3:NM_024526:exon7:c.G487A:p.G163S,EPS8L3:NM_133181:exon7:c.G487A:p.G163S,EPS8L3:NM_139053:exon7:c.G490A:p.G164S 0.32 0.72 0.22 0.056 0.19 0.23 0.2489 0.6380 0.2225 0.0447 0.2029 0.2200 0.2138 0.2662 0.35 0.61 0.22 0.35 0.22 rs6693815 . . . . . . . . . . . . . 0.563 0.111 T 0.003 0.154 B 0.001 0.093 B 0.085 0.024 N 1 0.090 P 1.175 0.300 L 2.6 0.596 T -0.49 0.156 N 0.043 0.039 -1.078 0.077 T 0.018 0.076 T . . . 0.756 0.166 9.190 0.897 0.185 0.014 0.047 N c -1.251 -1.198 0.833 0.247 0.428 0.059 0 -2.18 0.066 -1.568 0.022 -0.032 0.126 0.000 0.063 0.084 0.183 1.328 0.020 . ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Thyroid|Thyroid|Whole_Blood 0.2391 0.6429 0.2349 0.2158 0.0443 0.2051 0.2209 0.2178 0.2461 0.3303 0.6426 0.2488 0.1755 0.0377 0.2065 0.2212 0.2607 hom 3410.43 108 1 110301260 . C T 3410.43 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5275;MQ=59.05;MQ0=0;QD=31.58;VQSLOD=9.0382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3410,268,0 1 110466338 110466338 C A exonic CSF1 synonymous SNV CSF1:NM_000757:exon6:c.C1095A:p.T365T,CSF1:NM_172212:exon6:c.C1095A:p.T365T 0.43 0.11 0.57 0.4 0.62 0.6 0.5573 0.1826 0.6141 0.4316 0.6404 0.6019 0.5893 0.6048 0.46 0.19 0.6 0.4 0.58 rs333970 COSM3750219;COSM3750220 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5682 0.1810 0.6083 0.5416 0.4340 0.6429 0.6078 0.5865 0.6005 0.4853 0.1885 0.6283 0.5867 0.4414 0.6333 0.6129 0.5727 hom 3985.81 122 1 110466338 . C A 3985.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.335;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4025;MQ=58.67;MQ0=0;MQRankSum=-0.852;QD=32.67;ReadPosRankSum=-1.505;VQSLOD=8.2965;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,121:122:99:3951,282,0 1 110466709 110466709 T C exonic CSF1 nonsynonymous SNV CSF1:NM_000757:exon6:c.T1466C:p.F489S,CSF1:NM_172211:exon6:c.T572C:p.F191S,CSF1:NM_172212:exon6:c.T1466C:p.F489S,CSF1:NM_172210:exon7:c.T1118C:p.F373S 1. 0.99 1. 1. 1. 1. 0.9991 0.9902 0.9998 1 1 1.0000 0.9989 1 1. 0.99 1. 0.97 0.92 rs333971 . . . . . . . . . . . . . 1.0 0.055 T 0.0 0.090 B 0.0 0.040 B 0.090 0.204 N 1 0.090 P -1.39 0.006 N 2.96 0.096 T 2.32 0.003 N 0.124 0.140 -0.915 0.463 T 0.002 0.006 T . . . -0.434 0.059 0.319 0.313 0.017 0.007 0.029 N c -1.468 -1.303 1.000 0.517 0.707 0.730 0 4.57 0.557 -0.104 0.108 0.040 0.155 0.000 0.063 0.000 0.016 9.415 0.375 . . . 0.9992 0.9895 0.9993 1 1 1 1.0000 0.9995 1 0.9970 0.9896 1 1 1 1 1 0.9990 hom 3848.45 117 1 110466709 . T C 3848.45 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;QD=32.89;VQSLOD=9.3094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3848,298,0 1 110738296 110738296 G A exonic SLC6A17 synonymous SNV SLC6A17:NM_001010898:exon10:c.G1581A:p.S527S 0.29 0.044 0.38 0.3 0.45 0.37 0.4141 0.0999 0.3123 0.2750 0.5124 0.4943 0.4148 0.3924 0.37 0.11 0.5 0.3 0.5 rs2784140 COSM146574 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4178 0.0952 0.3304 0.4343 0.2733 0.5147 0.4963 0.4321 0.3919 0.3789 0.1127 0.3461 0.4603 0.2859 0.4917 0.5119 0.4703 het 1160.37 101 1 110738296 . G A 1160.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.666;DP=101;Dels=0.00;FS=1.643;HRun=0;HaplotypeScore=7.0697;MQ=59.54;MQ0=0;MQRankSum=-1.291;QD=11.49;ReadPosRankSum=-0.767;VQSLOD=4.1188;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,47:101:99:1190,0,1360 1 110882444 110882444 A G exonic RBM15 synonymous SNV RBM15:NM_001201545:exon1:c.A417G:p.E139E,RBM15:NM_022768:exon1:c.A417G:p.E139E 0.82 0.95 0.85 0.77 0.69 0.82 0.7613 0.9305 0.8484 0.7513 0.6926 0.7222 0.7281 0.7926 0.79 0.93 0.72 0.74 0.5 rs814771 COSM3750221 1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7586 0.9316 0.8409 0.6916 0.7419 0.7006 0.7232 0.7148 0.7902 0.7926 0.9240 0.8385 0.6954 0.7301 0.6873 0.7495 0.7510 hom 907.40 29 1 110882444 . A G 907.40 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.29;VQSLOD=13.2894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:75.21:940,75,0 1 110883569 110883569 A T exonic RBM15 synonymous SNV RBM15:NM_001201545:exon1:c.A1542T:p.P514P,RBM15:NM_022768:exon1:c.A1542T:p.P514P 0.18 0.032 0.16 0.26 0.19 0.28 0.1960 0.0532 0.1893 0.2692 0.1839 0.1938 0.1696 0.2669 0.14 0.056 0.19 0.14 0.21 rs3738752 COSM146575 1(breast);2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1966 0.0510 0.1890 0.2452 0.2660 0.1858 0.1871 0.1886 0.2669 0.1518 0.0524 0.1882 0.2583 0.2725 0.1830 0.1817 0.2041 het 1929.73 124 1 110883569 . A T 1929.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.783;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9812;MQ=59.33;MQ0=0;MQRankSum=0.697;QD=15.56;ReadPosRankSum=-1.444;VQSLOD=4.8578;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,67:124:99:1960,0,1624 1 110924353 110924353 G A exonic SLC16A4 synonymous SNV SLC16A4:NM_001201547:exon3:c.C99T:p.F33F,SLC16A4:NM_001319220:exon3:c.C99T:p.F33F,SLC16A4:NM_001201549:exon4:c.C285T:p.F95F,SLC16A4:NM_004696:exon4:c.C285T:p.F95F 0.18 0.032 0.16 0.26 0.19 0.28 0.1966 0.0535 0.1912 0.2691 0.1843 0.1945 0.1696 0.2659 0.14 0.056 0.19 0.14 0.2 rs3738750 COSM146577 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1957 0.0508 0.1876 0.2428 0.2651 0.1857 0.1865 0.1871 0.2651 0.1519 0.0524 0.1894 0.26 0.2741 0.1828 0.1817 0.2047 het 791.37 72 1 110924353 . G A 791.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.888;DP=72;Dels=0.00;FS=14.929;HRun=3;HaplotypeScore=1.9978;MQ=58.50;MQ0=0;MQRankSum=0.421;QD=10.99;ReadPosRankSum=-0.660;VQSLOD=3.8231;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,31:72:99:821,0,1119 1 110950439 110950439 C T exonic LAMTOR5 nonsynonymous SNV LAMTOR5:NM_006402:exon1:c.G50A:p.S17N 0.36 0.31 0.38 0.28 0.45 0.44 0.4359 0.3471 0.3904 0.2513 0.4779 0.4807 0.4367 0.4226 0.44 0.35 0.49 0.36 0.43 rs6674775 COSM1332599 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 1 0.090 P . . . . . . -0.07 0.080 N 0.019 0.004 -1.006 0.281 T 0.015 0.058 T . . . 1.035 0.193 10.86 0.971 0.320 0.021 0.062 N c -0.949 -1.221 1.0 0.983 0.025 0.001 3 -4.97 0.028 -0.458 0.068 -0.267 0.087 0.000 0.063 0.000 0.016 1.919 0.031 . ENSG00000143125.5|ENSG00000270380.1|ENSG00000143125.5|ENSG00000270380.1|ENSG00000143125.5|ENSG00000270380.1|ENSG00000270380.1|ENSG00000143125.5|ENSG00000134248.9|ENSG00000224699.4|ENSG00000134248.9|ENSG00000168679.13|ENSG00000270380.1|ENSG00000143125.5 Artery_Coronary|Artery_Coronary|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid 0.4353 0.3421 0.3899 0.3215 0.2478 0.4850 0.4945 0.4299 0.4233 0.4529 0.3499 0.4002 0.3444 0.2456 0.4765 0.5345 0.4581 het 907.16 70 1 110950439 . C T 907.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.073;DP=70;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4858;MQ=60.00;MQ0=0;MQRankSum=-0.934;QD=12.96;ReadPosRankSum=0.264;VQSLOD=6.0253;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:937,0,1101 1 110998854 110998854 G A exonic PROK1 nonsynonymous SNV PROK1:NM_032414:exon3:c.G199A:p.V67I 0.44 0.37 0.57 0.58 0.42 0.34 0.4362 0.3707 0.6226 0.5693 0.3830 0.4171 0.4372 0.3755 0.41 0.38 0.42 0.48 0.49 rs7514102 COSM146578 1(stomach);1(thyroid) . . . . . . . . . . . 0.298 0.146 T 0.003 0.102 B 0.009 0.133 B 0.688 0.102 N 0.418 0.324 P 1.655 0.426 L -2.1 0.862 D -0.37 0.132 N 0.04 0.020 -1.067 0.100 T 0.243 0.612 T . . . -0.674 0.046 0.083 0.626 0.068 0.780 0.381 D c -1.183 -1.261 0.217 0.183 0.554 0.283 0 -7.86 0.010 0.929 0.282 -0.799 0.032 1.000 0.715 0.115 0.194 11.213 0.479 Prokineticin domain . . 0.4431 0.3627 0.6047 0.4531 0.5606 0.3931 0.4135 0.4311 0.3800 0.4097 0.3693 0.5632 0.4503 0.5558 0.3920 0.4106 0.4322 hom 4273.61 137 1 110998854 . G A 4273.61 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=31.19;VQSLOD=9.3876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4273,346,0 1 111060669 111060669 T C exonic KCNA10 synonymous SNV KCNA10:NM_005549:exon1:c.A741G:p.L247L 0.62 0.51 0.78 0.59 0.73 0.59 0.7049 0.5580 0.8245 0.5743 0.6972 0.7462 0.6894 0.6192 0.67 0.56 0.73 0.66 0.76 rs1281175 COSM3996740 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7103 0.5534 0.8206 0.7398 0.5762 0.6955 0.7441 0.7268 0.6190 0.6765 0.5556 0.7806 0.7219 0.5619 0.7148 0.7399 0.7253 het 1973 167 1 111060669 . T C 1973 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.131;DP=167;DS;Dels=0.00;FS=6.271;HRun=0;HaplotypeScore=4.3535;MQ=59.72;MQ0=0;MQRankSum=-0.227;QD=11.81;ReadPosRankSum=-1.883;VQSLOD=3.9873;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,73:167:99:2003,0,2598 1 111061011 111061011 C A exonic KCNA10 synonymous SNV KCNA10:NM_005549:exon1:c.G399T:p.R133R 0.18 0.19 0.25 0.17 0.2 0.12 0.2117 0.1921 0.2426 0.1668 0.2122 0.2265 0.2031 0.1663 0.21 0.19 0.22 0.24 0.31 rs3748731 COSM3750223 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2115 0.1870 0.2377 0.2790 0.1635 0.2054 0.2207 0.2276 0.1688 0.2023 0.1887 0.2100 0.2583 0.1681 0.2095 0.2093 0.2230 het 1116.31 81 1 111061011 . C A 1116.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.873;DP=81;Dels=0.00;FS=1.845;HRun=0;HaplotypeScore=1.9963;MQ=58.76;MQ0=0;MQRankSum=1.996;QD=13.78;ReadPosRankSum=-0.014;VQSLOD=6.0275;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,44:81:99:1146,0,998 1 111061062 111061062 T C exonic KCNA10 synonymous SNV KCNA10:NM_005549:exon1:c.A348G:p.E116E 0.62 0.51 0.78 0.59 0.73 0.59 0.7050 0.5585 0.8247 0.5743 0.6967 0.7461 0.6894 0.6194 0.67 0.56 0.73 0.66 0.76 rs1281174 COSM5021286 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7103 0.5533 0.8206 0.7399 0.5764 0.6953 0.7440 0.7265 0.6192 0.6762 0.5555 0.7799 0.7219 0.5613 0.7156 0.7399 0.7220 het 1300.13 103 1 111061062 . T C 1300.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.494;DP=103;Dels=0.00;FS=4.950;HRun=0;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;MQRankSum=1.224;QD=12.62;ReadPosRankSum=0.425;VQSLOD=6.0550;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,52:103:99:1330,0,1331 1 111726869 111726869 G A exonic CEPT1 synonymous SNV CEPT1:NM_001007794:exon9:c.G1188A:p.A396A,CEPT1:NM_001330743:exon9:c.G1188A:p.A396A,CEPT1:NM_006090:exon9:c.G1188A:p.A396A 0.19 0.026 0.18 0.33 0.28 0.18 0.2421 0.0640 0.1677 0.3625 0.3357 0.2731 0.2489 0.1802 0.21 0.073 0.27 0.14 0.23 rs3795823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2447 0.0599 0.1668 0.2244 0.3680 0.3441 0.2741 0.2425 0.1804 0.2316 0.0657 0.1998 0.2450 0.3618 0.3396 0.2871 0.2822 het 1383.80 130 1 111726869 . G A 1383.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.150;DP=130;Dels=0.00;FS=5.540;HRun=0;HaplotypeScore=1.9983;MQ=58.42;MQ0=0;MQRankSum=-1.089;QD=10.64;ReadPosRankSum=-1.450;VQSLOD=4.4208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,57:130:99:1414,0,1743 1 111783982 111783982 C A exonic CHI3L2 synonymous SNV CHI3L2:NM_001025197:exon8:c.C922A:p.R308R,CHI3L2:NM_001025199:exon8:c.C715A:p.R239R,CHI3L2:NM_004000:exon9:c.C952A:p.R318R 0.19 0.051 0.17 0.2 0.33 0.24 0.2761 0.0909 0.1355 0.1875 0.3351 0.3450 0.3227 0.2330 0.23 0.1 0.3 0.16 0.24 rs13721 COSM3996742 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454935.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2729 0.0886 0.1510 0.3333 0.1878 0.3343 0.3409 0.3040 0.2293 0.2633 0.0985 0.1854 0.3311 0.2138 0.3291 0.3490 0.3152 hom 2290.97 144 1 111783982 . C A 2290.97 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.98;MQ0=0;QD=15.91;VQSLOD=6.5768;culprit=QD;set=variant GT:AD:DP:GQ:PL 1/1:0,74:144:99:2324,181,0 1 111783996 111783996 A G exonic CHI3L2 synonymous SNV CHI3L2:NM_001025197:exon8:c.A936G:p.Q312Q,CHI3L2:NM_001025199:exon8:c.A729G:p.Q243Q,CHI3L2:NM_004000:exon9:c.A966G:p.Q322Q 1. 1. 1. 1. 1. 1. 0.9998 0.9982 0.9999 1 1 1 1 1 1. 1. 1. 1. 1. rs2494007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9979 0.9999 1 1 1 1 1 1 0.9990 0.9966 1 1 1 1 1 1 hom 4366.11 135 1 111783996 . A G 4366.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.706;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=57.99;MQ0=0;MQRankSum=-0.372;QD=32.34;ReadPosRankSum=0.475;VQSLOD=8.2708;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,134:135:99:4366,337,0 1 111854889 111854889 A G exonic CHIA nonsynonymous SNV CHIA:NM_201653:exon4:c.A133G:p.N45D 0.11 0.21 0.084 . 0.11 0.097 0.1069 0.1961 0.0826 0.0002 0.0699 0.1188 0.1056 0.0933 0.14 0.19 0.12 0.12 0.15 rs41282492 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.01 0.139 B 0.160 0.177 N 1.000 0.419 P 0.225 0.096 N 3.58 0.046 T 0.23 0.046 N 0.01 0.007 -0.933 0.437 T 0.002 0.007 T . . . -1.176 0.026 0.007 0.346 0.021 0.008 0.032 N c -1.581 -1.557 0.001 0.082 0.487 0.133 0 -2.92 0.052 0.204 0.170 -0.753 0.034 0.006 0.172 0.318 0.240 13.483 0.606 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173947.9 Muscle_Skeletal 0.1052 0.1950 0.0834 0.1758 0.0001 0.0705 0.1191 0.1131 0.0942 0.1248 0.1988 0.0931 0.1788 0 0.0756 0.1098 0.0888 het 2086.18 202 1 111854889 . A G 2086.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.619;DP=202;Dels=0.00;FS=5.033;HRun=0;HaplotypeScore=7.0443;MQ=58.94;MQ0=0;MQRankSum=2.042;QD=10.33;ReadPosRankSum=0.094;VQSLOD=3.5292;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,87:202:99:2116,0,3148 1 111854895 111854895 G A exonic CHIA nonsynonymous SNV CHIA:NM_201653:exon4:c.G139A:p.D47N 0.11 0.21 0.082 . 0.11 0.097 0.1070 0.1911 0.0833 0.0005 0.0699 0.1196 0.1056 0.0933 0.14 0.18 0.12 0.12 0.15 rs41282494 . . . . . . . . . . . . . 0.042 0.416 D 0.944 0.512 P 0.504 0.459 P 0.001 0.392 N 0.902 0.810 P 2.305 0.662 M 3.29 0.065 T -3.95 0.734 D 0.062 0.129 -0.995 0.313 T 0.012 0.047 T . . . 5.412 0.734 26.0 0.998 0.884 0.950 0.628 D c 0.098 0.071 0.070 0.155 0.487 0.133 0 3.22 0.359 4.178 0.578 0.136 0.221 1.000 0.715 0.535 0.277 9.990 0.408 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173947.9 Muscle_Skeletal 0.1055 0.1894 0.0838 0.1868 0.0003 0.0706 0.1193 0.1139 0.0942 0.1237 0.1936 0.0931 0.1887 0 0.0756 0.1101 0.0900 het 2352.47 205 1 111854895 . G A 2352.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.506;DP=205;Dels=0.00;FS=3.228;HRun=1;HaplotypeScore=5.8384;MQ=59.07;MQ0=0;MQRankSum=2.715;QD=11.48;ReadPosRankSum=-0.500;VQSLOD=3.3570;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:115,90:205:99:2382,0,2824 1 111854938 111854938 G T exonic CHIA nonsynonymous SNV CHIA:NM_201653:exon4:c.G182T:p.R61M 0.11 0.21 0.082 . 0.11 0.097 0.1066 0.1912 0.0826 0.0002 0.0705 0.1189 0.1058 0.0933 0.14 0.18 0.12 0.12 0.15 rs41282496 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.700 0.810 P -3.325 0.000 N 3.51 0.050 T 4.45 0.000 N 0.078 0.157 -0.962 0.388 T 0.001 0.003 T . . . 0.261 0.119 5.309 0.202 0.007 0.034 0.083 N c -1.085 -0.755 0.320 0.194 0.487 0.133 0 4.93 0.643 5.478 0.663 0.152 0.238 1.000 0.715 0.534 0.277 10.441 0.435 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173947.9 Muscle_Skeletal 0.1049 0.1895 0.0833 0.1760 0.0001 0.0706 0.1192 0.1131 0.0942 0.1237 0.1941 0.0931 0.18 0 0.0757 0.1101 0.0888 het 2723.54 249 1 111854938 . G T 2723.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.430;DP=249;DS;Dels=0.00;FS=2.203;HRun=0;HaplotypeScore=5.7799;MQ=58.73;MQ0=0;MQRankSum=1.232;QD=10.94;ReadPosRankSum=0.089;VQSLOD=4.4064;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,106:249:99:2754,0,3774 1 111861822 111861822 G A exonic CHIA synonymous SNV CHIA:NM_001258002:exon6:c.G513A:p.V171V,CHIA:NM_021797:exon7:c.G672A:p.V224V,CHIA:NM_001040623:exon8:c.G513A:p.V171V,CHIA:NM_001258003:exon8:c.G672A:p.V224V,CHIA:NM_001258001:exon9:c.G672A:p.V224V,CHIA:NM_001258005:exon9:c.G513A:p.V171V,CHIA:NM_001258004:exon10:c.G513A:p.V171V,CHIA:NM_201653:exon10:c.G996A:p.V332V 0.075 0.089 0.073 . 0.11 0.097 0.0979 0.0935 0.0787 0.0002 0.0702 0.1184 0.1013 0.0931 0.11 0.098 0.12 0.054 0.15 rs17027410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0978 0.0923 0.0789 0.1754 0.0001 0.0706 0.1185 0.1086 0.0937 0.0957 0.0981 0.0837 0.1788 0 0.0756 0.1093 0.0815 het 1333.98 129 1 111861822 . G A 1333.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.212;DP=129;Dels=0.00;FS=2.391;HRun=0;HaplotypeScore=5.4086;MQ=59.19;MQ0=0;MQRankSum=0.515;QD=10.34;ReadPosRankSum=0.902;VQSLOD=5.2074;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,53:129:99:1364,0,2122 1 111861841 111861841 A G exonic CHIA nonsynonymous SNV CHIA:NM_001258002:exon6:c.A532G:p.I178V,CHIA:NM_021797:exon7:c.A691G:p.I231V,CHIA:NM_001040623:exon8:c.A532G:p.I178V,CHIA:NM_001258003:exon8:c.A691G:p.I231V,CHIA:NM_001258001:exon9:c.A691G:p.I231V,CHIA:NM_001258005:exon9:c.A532G:p.I178V,CHIA:NM_001258004:exon10:c.A532G:p.I178V,CHIA:NM_201653:exon10:c.A1015G:p.I339V 0.66 0.8 0.43 0.48 0.71 0.77 0.6554 0.7777 0.3255 0.4476 0.6445 0.6960 0.6608 0.7581 0.72 0.77 0.7 0.71 0.75 rs2275253 COSM1179735;COSM1179734 1(prostate) . . . . . . . . . . . 0.752 0.036 T 0.0 0.026 B 0.001 0.040 B 0.396 0.045 N 1 0.090 P -0.5 0.026 N 3.55 0.048 T 0.42 0.034 N 0.02 0.213 -0.904 0.475 T 0.002 0.005 T . . . -1.557 0.016 0.002 0.698 0.088 0.007 0.031 N c -1.531 -1.507 0.325 0.194 0.497 0.185 0 -3.21 0.048 -0.443 0.069 0.138 0.222 0.000 0.063 0.210 0.219 8.042 0.295 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily;Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000134216.14 Adipose_Subcutaneous 0.6402 0.7783 0.3471 0.7070 0.4529 0.6384 0.7003 0.6443 0.7577 0.6933 0.7805 0.4308 0.6954 0.4469 0.6499 0.6977 0.6354 hom 3925.06 135 1 111861841 . A G 3925.06 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.23;MQ0=0;QD=29.07;VQSLOD=8.6079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:3924,319,0 1 111861974 111861974 T C exonic CHIA nonsynonymous SNV CHIA:NM_001258002:exon7:c.T578C:p.F193S,CHIA:NM_021797:exon8:c.T737C:p.F246S,CHIA:NM_001040623:exon9:c.T578C:p.F193S,CHIA:NM_001258003:exon9:c.T737C:p.F246S,CHIA:NM_001258001:exon10:c.T737C:p.F246S,CHIA:NM_001258005:exon10:c.T578C:p.F193S,CHIA:NM_001258004:exon11:c.T578C:p.F193S,CHIA:NM_201653:exon11:c.T1061C:p.F354S 0.44 0.32 0.31 0.38 0.6 0.61 0.5082 0.3437 0.2615 0.3459 0.5468 0.5734 0.5277 0.5899 0.5 0.35 0.58 0.37 0.57 rs2275254 COSM3996745;COSM3996744 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.023 0.518 D 1.0 0.899 D 0.997 0.850 D 0.099 0.199 N 0.215 0.343 P 3.11 0.880 M 3.4 0.057 T -5.59 0.867 D 0.241 0.569 -1.055 0.129 T 0.046 0.198 T . . . 4.984 0.670 25.1 0.998 0.902 0.906 0.516 D c 0.461 0.297 0.774 0.237 0.497 0.185 0 3.8 0.427 2.757 0.470 1.061 0.807 1.000 0.715 0.967 0.454 9.355 0.371 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.5024 0.3349 0.2783 0.6220 0.3475 0.5403 0.5746 0.5212 0.5856 0.4859 0.3504 0.3437 0.6159 0.3397 0.5456 0.5690 0.5319 hom 2925.14 94 1 111861974 . T C 2925.14 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8923;MQ=59.75;MQ0=0;QD=31.12;VQSLOD=8.6765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2958,229,0 1 111862078 111862078 C T exonic CHIA synonymous SNV CHIA:NM_001258002:exon7:c.C682T:p.L228L,CHIA:NM_021797:exon8:c.C841T:p.L281L,CHIA:NM_001040623:exon9:c.C682T:p.L228L,CHIA:NM_001258003:exon9:c.C841T:p.L281L,CHIA:NM_001258001:exon10:c.C841T:p.L281L,CHIA:NM_001258005:exon10:c.C682T:p.L228L,CHIA:NM_001258004:exon11:c.C682T:p.L228L,CHIA:NM_201653:exon11:c.C1165T:p.L389L 0.1 0.19 0.082 . 0.11 0.097 0.1052 0.1732 0.0814 0.0002 0.0702 0.1189 0.1033 0.0934 0.14 0.17 0.12 0.11 0.12 rs12094378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1030 0.1692 0.0821 0.1752 0.0001 0.0704 0.1185 0.1112 0.0940 0.1166 0.1704 0.0931 0.1788 0 0.0753 0.1096 0.0859 het 1300.29 88 1 111862078 . C T 1300.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.426;DP=88;Dels=0.00;FS=1.885;HRun=1;HaplotypeScore=3.3635;MQ=59.08;MQ0=0;MQRankSum=0.038;QD=14.78;ReadPosRankSum=-1.018;VQSLOD=6.1404;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,48:88:99:1330,0,1091 1 111862952 111862952 T G exonic CHIA nonsynonymous SNV CHIA:NM_001258002:exon8:c.T812G:p.V271G,CHIA:NM_021797:exon9:c.T971G:p.V324G,CHIA:NM_001040623:exon10:c.T812G:p.V271G,CHIA:NM_001258003:exon10:c.T971G:p.V324G,CHIA:NM_001258001:exon11:c.T971G:p.V324G,CHIA:NM_001258005:exon11:c.T812G:p.V271G,CHIA:NM_001258004:exon12:c.T812G:p.V271G,CHIA:NM_201653:exon12:c.T1295G:p.V432G 0.66 0.79 0.42 0.48 0.71 0.77 0.6552 0.7718 0.3246 0.4492 0.6452 0.6963 0.6623 0.7588 0.72 0.77 0.7 0.69 0.72 rs2256721 COSM3750231;COSM3750230 1(bone);1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 N 0.520 0.316 P -3.04 0.000 N 1.79 0.255 T 4.72 0.000 N 0.033 0.562 -0.960 0.392 T 0.002 0.006 T . . . 0.502 0.142 7.447 0.799 0.125 0.014 0.047 N c -1.265 -1.003 0.994 0.336 0.497 0.185 0 1.49 0.219 2.285 0.429 -0.308 0.079 1.000 0.715 0.295 0.236 4.952 0.133 Chitin binding domain;Chitinase II|Chitinase insertion domain|Glycoside hydrolase family 18\x2c catalytic domain ENSG00000134216.14 Adipose_Subcutaneous 0.6399 0.7729 0.3461 0.7060 0.4538 0.6386 0.7006 0.6440 0.7581 0.6925 0.7773 0.4318 0.6954 0.4478 0.6499 0.6976 0.6365 hom 3015.50 88 1 111862952 . T G 3015.50 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.29;MQ0=0;QD=34.27;VQSLOD=9.3142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:88:99:3049,241,0 1 111891192 111891192 C A exonic PIFO nonsynonymous SNV PIFO:NM_001300831:exon3:c.C214A:p.H72N,PIFO:NM_181643:exon4:c.C313A:p.H105N 0.083 0.11 0.079 . 0.12 0.097 0.1037 0.1090 0.0808 0.0002 0.0593 0.1264 0.1106 0.0963 0.12 0.11 0.13 0.076 0.15 rs2184884 . . . . . . . . . . . . . 0.306 0.176 T 0.763 0.417 P 0.288 0.389 B 0.775 0.066 N 1 0.090 P 1.955 0.530 M 1.95 0.307 T -2.86 0.651 D 0.025 0.047 -1.030 0.204 T 0.027 0.114 T . . . 0.516 0.143 7.551 0.749 0.105 0.015 0.050 N c -0.670 -0.851 0.308 0.193 0.615 0.372 0 -1.47 0.083 -0.812 0.046 0.935 0.490 0.001 0.137 0.930 0.404 0.338 0.003 . . . 0.1007 0.1064 0.0781 0.1736 0.0001 0.0620 0.1256 0.1126 0.0916 0.1023 0.1101 0.0907 0.1755 0 0.0662 0.1174 0.0857 het 2714.10 250 1 111891192 . C A 2714.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.563;DP=250;DS;Dels=0.00;FS=1.678;HRun=5;HaplotypeScore=4.4703;MQ=59.14;MQ0=0;MQRankSum=0.789;QD=10.86;ReadPosRankSum=-0.089;VQSLOD=5.9795;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:148,102:250:99:2744,0,4293 1 112042632 112042632 A G exonic ADORA3 synonymous SNV ADORA3:NM_000677:exon2:c.T897C:p.A299A,ADORA3:NM_001302679:exon2:c.T462C:p.A154A 0.77 0.74 0.86 0.76 0.83 0.72 0.8065 0.7378 0.8505 0.7683 0.8510 0.8195 0.8293 0.7677 0.79 0.74 0.81 0.84 0.89 rs2229155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8098 0.7375 0.8470 0.8480 0.7669 0.8432 0.8162 0.8273 0.7664 0.7900 0.7504 0.8453 0.8642 0.7772 0.8405 0.7963 0.8157 hom 2796.60 92 1 112042632 . A G 2796.60 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9330;MQ=59.92;MQ0=0;QD=30.40;VQSLOD=8.0331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2830,214,0 1 112042787 112042787 T G exonic ADORA3 nonsynonymous SNV ADORA3:NM_000677:exon2:c.A742C:p.I248L,ADORA3:NM_001302679:exon2:c.A307C:p.I103L 0.059 0.063 0.084 0.001 0.14 0.015 0.0947 0.0585 0.0616 0.0002 0.0782 0.1349 0.1162 0.0333 0.11 0.058 0.14 0.033 0.16 rs35511654 . . . . . . . . . . . . . 0.006 0.614 D 0.993 0.637 D 0.928 0.645 D . . . 0.212 0.810 P 0.96 0.240 L -0.84 0.743 T -1.74 0.412 N 0.231 0.283 -0.494 0.689 T 0.301 0.672 T . . . 1.816 0.279 15.08 0.990 0.506 0.970 0.720 D c 0.276 0.239 1.000 0.747 0.516 0.203 0 3.86 0.435 3.206 0.506 0.964 0.580 1.000 0.715 0.983 0.502 10.992 0.466 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0943 0.0571 0.0653 0.1589 0.0002 0.0799 0.1364 0.1129 0.0313 0.0911 0.0617 0.0704 0.1589 0 0.0781 0.1206 0.0937 het 1786.17 108 1 112042787 . T G 1786.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.099;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8332;MQ=59.21;MQ0=0;MQRankSum=-0.129;QD=16.54;ReadPosRankSum=1.182;VQSLOD=5.7809;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,66:108:99:1816,0,991 1 112269872 112269872 G A exonic FAM212B synonymous SNV FAM212B:NM_019099:exon2:c.C612T:p.F204F,FAM212B:NM_198926:exon2:c.C567T:p.F189F 0.86 0.96 0.75 0.83 0.82 0.89 0.8237 0.9382 0.6966 0.8253 0.8070 0.8176 0.8062 0.8724 0.86 0.93 0.82 0.84 0.78 rs197434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8170 0.9413 0.7110 0.7605 0.8297 0.8092 0.8216 0.8151 0.8708 0.8444 0.9371 0.7620 0.8079 0.8335 0.8019 0.8084 0.8190 hom 3366.53 105 1 112269872 . G A 3366.53 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2173;MQ=59.42;MQ0=0;QD=32.06;VQSLOD=7.0839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3366,271,0 1 112298582 112298582 A G exonic DDX20 synonymous SNV DDX20:NM_007204:exon1:c.A36G:p.A12A 0.24 0.57 0.15 0.037 0.2 0.13 0.2050 0.5141 0.0866 0.0426 0.2431 0.2090 0.1808 0.1780 0.27 0.44 0.19 0.23 0.15 rs197392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1840 0.5012 0.0922 0.1386 0.0417 0.2253 0.2002 0.1680 0.1461 0.2776 0.4845 0.1348 0.1159 0.0444 0.2321 0.2093 0.2071 hom 748.36 27 1 112298582 . A G 748.36 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.18;MQ0=0;QD=27.72;VQSLOD=7.9687;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:63.18:781,63,0 1 112308953 112308953 T C exonic DDX20 nonsynonymous SNV DDX20:NM_007204:exon11:c.T1907C:p.I636T 0.47 0.72 0.51 0.34 0.42 0.31 0.4271 0.6796 0.5482 0.3512 0.4558 0.3966 0.4031 0.3359 0.48 0.67 0.39 0.48 0.39 rs197412 COSM4142147 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.652 0.079 T 0.0 0.026 B 0.0 0.013 B 0.011 0.013 N 1 0.090 P -1.79 0.003 N 1.47 0.320 T 0.49 0.030 N 0.019 0.031 -0.985 0.338 T 0.009 0.031 T . . . -1.833 0.010 0.002 0.682 0.083 0.118 0.167 N c -1.022 -0.839 0.944 0.275 0.707 0.730 0 3.86 0.435 1.933 0.395 -0.339 0.072 0.754 0.289 0.195 0.216 5.181 0.144 . ENSG00000227811.2 Thyroid 0.4258 0.6882 0.5321 0.3564 0.3459 0.4518 0.3963 0.4120 0.3374 0.4899 0.6753 0.4857 0.3 0.3412 0.4725 0.4114 0.4086 hom 948.04 28 1 112308953 . T C 948.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.238;DP=28;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=-0.867;QD=33.86;ReadPosRankSum=0.495;VQSLOD=4.8777;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,27:28:49:981,49,0 1 112308972 112308972 G A exonic DDX20 synonymous SNV DDX20:NM_007204:exon11:c.G1926A:p.V642V 0.48 0.74 0.51 0.34 0.42 0.31 0.4274 0.6898 0.5480 0.3510 0.4556 0.3958 0.4031 0.3358 0.49 0.68 0.39 0.48 0.39 rs197413 COSM3721436 1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4262 0.6987 0.5325 0.3566 0.3457 0.4513 0.3957 0.4114 0.3373 0.4922 0.6851 0.4857 0.3 0.34 0.4719 0.4106 0.4088 hom 1179.76 40 1 112308972 . G A 1179.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DP=40;Dels=0.00;FS=3.233;HRun=0;HaplotypeScore=2.8649;MQ=60.00;MQ0=0;MQRankSum=-0.173;QD=29.49;ReadPosRankSum=-1.386;VQSLOD=4.0319;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,39:40:66.74:1213,67,0 1 112991698 112991698 T C exonic CTTNBP2NL synonymous SNV CTTNBP2NL:NM_018704:exon4:c.T234C:p.N78N 0.53 0.32 0.57 0.45 0.66 0.71 0.5987 0.3803 0.5277 0.4277 0.5768 0.6413 0.5982 0.7117 0.56 0.39 0.65 0.49 0.68 rs2256883 COSM146582 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5969 0.3767 0.5313 0.6379 0.4285 0.5686 0.6445 0.5801 0.7096 0.5359 0.3734 0.5501 0.6291 0.4422 0.5626 0.6267 0.6135 hom 2115.39 71 1 112991698 . T C 2115.39 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6642;MQ=57.95;MQ0=0;QD=29.79;VQSLOD=7.5734;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2148,165,0 1 112999227 112999227 G A exonic CTTNBP2NL synonymous SNV CTTNBP2NL:NM_018704:exon6:c.G1113A:p.Q371Q 0.94 0.96 0.94 1. 0.86 0.94 0.8917 0.9382 0.9567 0.9984 0.8592 0.8520 0.8910 0.9344 0.88 0.93 0.86 0.95 0.84 rs1175641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8942 0.9361 0.9522 0.8803 0.9984 0.8586 0.8529 0.8864 0.9332 0.8806 0.9269 0.9414 0.8940 0.9994 0.8511 0.8439 0.8829 hom 6277.94 182 1 112999227 . G A 6277.94 Mask AC=2;AF=1.00;AN=2;DP=182;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8426;MQ=59.54;MQ0=0;QD=34.49;VQSLOD=7.7713;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:6277,491,0 1 113255389 113255389 C T exonic PPM1J nonsynonymous SNV PPM1J:NM_005167:exon3:c.G706A:p.V236I 0.97 0.88 0.99 1. 1. 1. 0.9897 0.8894 0.9952 1 1 0.9995 0.9934 0.9996 0.96 0.89 1. 0.97 1. rs10857971 . . . . . . . . . . . . . 0.554 0.065 T 0.0 0.090 B 0.0 0.040 B 0.000 0.843 N 1.000 0.186 P -1.68 0.004 N 2.44 0.152 T 0.81 0.018 N 0.041 0.097 -0.920 0.455 T 0.004 0.013 T . . . 1.718 0.268 14.51 0.838 0.144 0.069 0.128 N c -0.775 -0.470 1.000 0.747 0.696 0.567 0 4.72 0.591 2.090 0.411 0.154 0.240 1.000 0.715 0.999 0.750 10.051 0.412 PPM-type phosphatase domain . . 0.9917 0.8849 0.9946 0.9990 1 1 0.9996 0.9951 0.9996 0.9667 0.8842 0.9952 1 1 1 0.9996 0.9898 hom 7102.07 226 1 113255389 . C T 7102.07 Mask AC=2;AF=1.00;AN=2;DP=226;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3917;MQ=59.48;MQ0=0;QD=31.43;VQSLOD=6.5375;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7101,560,0 1 113657092 113657092 A C exonic LRIG2 synonymous SNV LRIG2:NM_014813:exon15:c.A2124C:p.T708T,LRIG2:NM_001312686:exon16:c.A1815C:p.T605T 0.9 0.7 0.97 0.95 0.99 0.98 0.9633 0.7366 0.9815 0.9677 0.9890 0.9862 0.9857 0.9868 0.9 0.74 0.99 0.87 0.98 rs1216793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9671 0.7291 0.9784 0.9860 0.9664 0.9891 0.9849 0.9759 0.9859 0.9157 0.7413 0.9737 0.99 0.9690 0.9891 0.9855 0.9763 hom 2682.78 94 1 113657092 . A C 2682.78 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=2.5257;MQ=57.91;MQ0=0;QD=28.24;VQSLOD=7.5269;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2716,202,0 1 114377568 114377568 A G exonic PTPN22 nonsynonymous SNV PTPN22:NM_012411:exon12:c.T1693C:p.W565R,PTPN22:NM_001308297:exon13:c.T1786C:p.W596R,PTPN22:NM_001193431:exon14:c.T1858C:p.W620R,PTPN22:NM_015967:exon14:c.T1858C:p.W620R 0.97 1. 0.96 1. 0.91 0.99 0.9332 0.9864 0.9750 1 0.8553 0.9034 0.9449 0.9861 0.93 0.98 0.91 0.9 0.8 rs2476601 . . other|other|other|other|other Diabetes_mellitus\x2c_insulin-dependent\x2c_susceptibility_to|Rheumatoid_arthritis|Systemic_lupus_erythematosus\x2c_susceptibility_to|Hashimoto_thyroiditis\x2c_susceptibility_to|Addison_disease\x2c_susceptibility_to RCV000009460.2|RCV000009461.2|RCV000009462.2|RCV000009463.2|RCV000009464.2 . . Type 1 diabetes 1.98 . 17554260 rs2476601 2E-80 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.588 P . . . 4.64 0.028 T 5.1 0.000 N 0.321 0.408 -0.906 0.474 T 0.004 0.014 T . . . 1.021 0.192 10.78 0.842 0.146 0.023 0.066 N c -0.615 -0.448 0.963 0.286 0.707 0.730 0 2.7 0.309 0.807 0.266 0.076 0.183 0.986 0.359 0.992 0.562 7.516 0.266 . . . 0.9285 0.9855 0.9698 0.9486 0.9999 0.8526 0.9015 0.9287 0.9868 0.9187 0.9829 0.9702 0.9437 1 0.8509 0.8861 0.9002 hom 6732.11 231 1 114377568 . A G 6732.11 Mask AC=2;AF=1.00;AN=2;DP=231;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4950;MQ=59.61;MQ0=0;QD=29.14;VQSLOD=7.7273;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,231:231:99:6731,521,0 1 114394689 114394689 C T exonic PTPN22 nonsynonymous SNV PTPN22:NM_001308297:exon9:c.G716A:p.R239Q,PTPN22:NM_001193431:exon10:c.G788A:p.R263Q,PTPN22:NM_015967:exon10:c.G788A:p.R263Q 0.011 0.0023 0.02 . 0.026 0.012 0.0175 0.0057 0.0139 0.0005 0.0204 0.0226 0.0172 0.0146 0.016 0.0064 0.021 0.011 0.041 rs33996649 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.147 B 0.0 0.040 B 0.001 0.395 N 1 0.810 D -0.245 0.039 N -1.69 0.830 D 2.56 0.003 N 0.047 0.101 -0.969 0.374 T 0.080 0.317 T . . . 1.930 0.293 15.77 0.804 0.128 0.082 0.140 N c -0.945 -0.659 0.785 0.239 0.732 0.924 0 3.43 0.382 3.929 0.560 -0.724 0.036 1.000 0.715 0.977 0.480 13.045 0.582 PTP type protein phosphatase|Protein-tyrosine phosphatase\x2c catalytic|Protein-tyrosine phosphatase-like|Tyrosine specific protein phosphatases domain;PTP type protein phosphatase|Protein-tyrosine phosphatase-like|Tyrosine specific protein phosphatases domain . . 0.0172 0.0046 0.0146 0.0129 0.0002 0.0225 0.0227 0.0168 0.0133 0.0157 0.0050 0.0215 0.0132 0 0.0180 0.0233 0.0092 het 599.21 72 1 114394689 . C T 599.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.902;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9913;MQ=59.13;MQ0=0;MQRankSum=1.249;QD=8.32;ReadPosRankSum=1.049;VQSLOD=5.7898;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,26:72:99:629,0,1059 1 114424601 114424601 C T exonic BCL2L15 nonsynonymous SNV BCL2L15:NM_001010922:exon3:c.G268A:p.D90N 1. 1. 1. 1. 1. 1. 0.9999 0.9999 1 1 1 0.9998 1 1 1. 1. 1. 1. 1. rs1217381 . . . . . . . . . . . . . 0.644 0.049 T 0.001 0.067 B 0.002 0.063 B 1.000 0.080 N 1 0.090 P 0.46 0.130 N 3.61 0.045 T -0.5 0.158 N 0.004 0.000 -0.919 0.457 T 0.003 0.009 T . . . -0.188 0.077 1.163 0.209 0.008 0.017 0.053 N c -1.521 -1.509 0.999 0.396 0.601 0.348 0 -0.702 0.106 -1.635 0.021 -0.310 0.079 0.000 0.063 0.000 0.016 7.784 0.281 . . . 0.9999 0.9999 1.0000 1 1 1 0.9998 1 1 0.9999 1 1 1 1 1 0.9998 1 hom 1694.32 56 1 114424601 . C T 1694.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.670;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5004;MQ=57.15;MQ0=0;MQRankSum=1.052;QD=30.26;ReadPosRankSum=-0.619;VQSLOD=4.6485;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,55:56:99:1727,141,0 1 114438951 114438951 A G exonic AP4B1 nonsynonymous SNV AP4B1:NM_001308312:exon5:c.T935C:p.L312S,AP4B1:NM_001253852:exon8:c.T1439C:p.L480S,AP4B1:NM_001253853:exon9:c.T1142C:p.L381S,AP4B1:NM_006594:exon9:c.T1439C:p.L480S 0.38 0.8 0.25 0.079 0.27 0.31 0.3186 0.7180 0.1612 0.0679 0.2678 0.3204 0.3411 0.3207 0.44 0.68 0.31 0.36 0.29 rs1217401 . . other not_specified RCV000145016.2 MedGen CN169374 . . . . . . 0.382 0.196 T 0.071 0.224 B 0.111 0.300 B 0.017 0.278 N 0.005 0.424 P -0.205 0.041 N 1.85 0.245 T 0.05 0.064 N 0.246 0.358 -1.051 0.141 T 0.024 0.101 T . . . 2.804 0.398 21.4 0.993 0.596 0.932 0.573 D c -0.043 0.194 1.000 0.747 0.722 0.854 0 6.04 0.980 6.278 0.724 0.233 0.259 1.000 0.715 0.993 0.574 16.588 0.845 Armadillo-like helical|Armadillo-type fold|Clathrin/coatomer adaptor\x2c adaptin-like\x2c N-terminal ENSG00000226167.1|ENSG00000134262.8|ENSG00000134262.8|ENSG00000163349.17|ENSG00000134262.8|ENSG00000226167.1|ENSG00000134262.8|ENSG00000226167.1|ENSG00000134262.8|ENSG00000134262.8|ENSG00000226167.1|ENSG00000134262.8 Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood 0.3032 0.7218 0.1696 0.4093 0.0606 0.2724 0.3150 0.3076 0.3212 0.4044 0.702 0.2213 0.4233 0.0475 0.2639 0.3195 0.3041 hom 6860.60 227 1 114438951 . A G 6860.60 Mask AC=2;AF=1.00;AN=2;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2408;MQ=59.57;MQ0=0;QD=30.22;VQSLOD=8.7594;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:6859,578,0 1 114515717 114515717 G A exonic HIPK1 synonymous SNV HIPK1:NM_181358:exon14:c.G2034A:p.A678A,HIPK1:NM_198269:exon15:c.G2094A:p.A698A,HIPK1:NM_198268:exon16:c.G3216A:p.A1072A 0.49 0.55 0.44 0.52 0.43 0.46 0.4156 0.5118 0.3546 0.4866 0.3653 0.4040 0.4284 0.4355 0.45 0.51 0.42 0.45 0.43 rs2358996 COSM5619028;COSM4142169 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4148 0.5161 0.3655 0.5144 0.4873 0.3598 0.4049 0.4037 0.4210 0.4268 0.5143 0.3645 0.46 0.4988 0.3446 0.3933 0.3799 hom 7600.76 235 1 114515717 . G A 7600.76 Mask AC=2;AF=1.00;AN=2;DP=235;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4600;MQ=59.30;MQ0=0;QD=32.34;VQSLOD=6.8476;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,234:235:99:7599,632,0 1 114948281 114948281 A G exonic TRIM33 nonsynonymous SNV TRIM33:NM_015906:exon15:c.T2519C:p.I840T,TRIM33:NM_033020:exon15:c.T2519C:p.I840T 0.86 0.98 0.8 0.58 0.94 0.93 0.8921 0.9709 0.7596 0.6074 0.9661 0.9250 0.8866 0.9223 0.94 0.97 0.93 0.89 0.95 rs6537825 COSM3735916 1(skin) . . . . . Autism 0.71 . 24189344 rs6537825 3E-8 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P -1.955 0.002 N -0.55 0.711 T 2.34 0.003 N 0.075 0.278 -1.066 0.103 T 0.039 0.168 T . . . 0.726 0.163 8.995 0.298 0.016 0.200 0.207 N c -0.780 -0.504 0.901 0.260 0.707 0.730 0 4.35 0.513 3.042 0.493 0.104 0.200 1.000 0.715 0.993 0.574 10.725 0.451 . ENSG00000175984.10 Whole_Blood 0.8860 0.9722 0.7732 0.8890 0.5970 0.9648 0.9275 0.8844 0.9200 0.9250 0.9707 0.8266 0.87 0.5813 0.9674 0.9320 0.9265 hom 4629.03 141 1 114948281 . A G 4629.03 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=59.87;MQ0=0;QD=32.83;VQSLOD=9.3536;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4629,364,0 1 115168097 115168097 T C exonic DENND2C nonsynonymous SNV DENND2C:NM_198459:exon2:c.A509G:p.D170G,DENND2C:NM_001256404:exon4:c.A509G:p.D170G 0.13 0.02 0.18 0.087 0.29 0.1 0.2270 0.0591 0.1964 0.1053 0.2903 0.2912 0.2081 0.1315 0.22 0.072 0.3 0.12 0.25 rs12136548 COSM3735917;COSM3735918 1(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . 0.412 0.114 T 0.0 0.026 B 0.0 0.013 B 0.061 0.021 N 0.953 0.264 P 0.145 0.088 N 3.78 0.414 T -0.81 0.273 N 0.01 0.012 -1.059 0.120 T 0.011 0.043 T . . . -0.130 0.082 1.520 0.874 0.166 0.166 0.193 N c -0.786 -0.608 0.006 0.111 0.554 0.246 0 -1.64 0.078 0.288 0.186 1.061 0.807 0.998 0.411 0.997 0.653 1.447 0.022 . . . 0.2269 0.0552 0.1951 0.1611 0.1028 0.2915 0.2972 0.2439 0.1335 0.2102 0.0652 0.2017 0.1623 0.1074 0.2912 0.2860 0.2459 hom 1837.37 56 1 115168097 . T C 1837.37 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=58.92;MQ0=0;QD=32.81;VQSLOD=9.7032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1870,144,0 1 115417175 115417175 A G exonic SYCP1 nonsynonymous SNV SYCP1:NM_001282541:exon9:c.A647G:p.N216S,SYCP1:NM_001282542:exon9:c.A647G:p.N216S,SYCP1:NM_003176:exon9:c.A647G:p.N216S 0.0066 . 0.016 . 0.022 . 0.0126 0.0035 0.0068 0.0001 0.0070 0.0198 0.0132 0.0019 0.017 0.0041 0.023 . 0.025 rs61730057 . . . . . . . . . . . . . 0.374 0.117 T 0.024 0.178 B 0.033 0.210 B 0.002 0.388 N 0.999 0.216 N 1.025 0.256 L 0.57 0.544 T -1.1 0.344 N 0.006 0.005 -0.995 0.312 T 0.032 0.136 T . . . 1.359 0.227 12.57 0.983 0.398 0.634 0.318 D c -0.447 -0.283 0.000 0.038 0.487 0.133 0 2.73 0.311 1.628 0.364 0.237 0.263 1.000 0.715 0.998 0.697 6.583 0.217 . . . 0.0123 0.0028 0.0072 0.0155 0.0001 0.0075 0.0201 0.0112 0.0016 0.0109 0.0029 0.0155 0.0132 0 0.0057 0.0177 0.0092 het 2234.55 174 1 115417175 . A G 2234.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.688;DP=174;Dels=0.00;FS=2.720;HRun=0;HaplotypeScore=2.7591;MQ=58.52;MQ0=0;MQRankSum=-0.737;QD=12.84;ReadPosRankSum=-0.184;VQSLOD=5.3885;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,89:174:99:2265,0,2010 1 115576023 115576023 A G exonic TSHB nonsynonymous SNV TSHB:NM_000549:exon2:c.A40G:p.T14A 0.98 1. 0.99 1. 0.96 0.96 0.9707 0.9955 0.9929 1 0.9440 0.9645 0.9692 0.9599 0.98 0.99 0.97 0.99 0.96 rs10776792 . . Benign|Benign not_specified|Congenital_hypothyroidism RCV000242832.1|RCV000396537.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 0.761 0.035 T 0.0 0.026 B 0.0 0.013 B 0.932 0.084 N 1 0.090 P -0.9 0.013 N 0.36 0.579 T 0.52 0.029 N 0.014 0.029 -1.039 0.176 T 0.013 0.053 T . . . -2.290 0.005 0.001 0.218 0.009 0.005 0.024 N c -1.767 -1.696 0.000 0.029 0.487 0.133 0 -1.69 0.077 0.207 0.171 -0.770 0.033 0.027 0.200 0.236 0.225 2.173 0.036 . . . 0.9710 0.9946 0.9916 0.9887 0.9999 0.9449 0.9632 0.9744 0.9612 0.9746 0.9943 0.9868 0.9934 1 0.9419 0.9681 0.9561 hom 3280 95 1 115576023 . A G 3280 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.32;MQ0=0;QD=34.53;VQSLOD=9.9057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3280,250,0 1 115829313 115829313 G A exonic NGF nonsynonymous SNV NGF:NM_002506:exon3:c.C104T:p.A35V 0.25 0.16 0.32 0.16 0.46 0.19 0.3656 0.1881 0.3372 0.1670 0.4879 0.4453 0.3753 0.2298 0.37 0.21 0.45 0.33 0.46 rs6330 COSM3735921 7(soft_tissue);1(skin);1(large_intestine) Benign Congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers RCV000268865.1 MedGen:OMIM:Orphanet:SNOMED_CT C0020075:608654:ORPHA64752:128206006 . . . . . . 0.022 0.486 D 0.002 0.090 B 0.003 0.080 B 0.137 0.184 N 0.254 0.339 P 2.785 0.815 M 0.09 0.615 T -0.68 0.195 N 0.036 0.017 -1.002 0.295 T 0.084 0.328 T . . . 2.434 0.354 19.04 0.998 0.928 0.902 0.509 D c -0.105 0.036 0.997 0.352 0.615 0.372 0 4.45 0.532 1.788 0.381 0.998 0.613 0.988 0.363 0.994 0.587 5.893 0.180 . . . 0.3702 0.1859 0.3463 0.3894 0.1628 0.4796 0.4475 0.3873 0.2347 0.3693 0.1971 0.3580 0.4437 0.1526 0.4854 0.4621 0.4134 hom 3472.79 110 1 115829313 . G A 3472.79 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.57;VQSLOD=14.0771;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3472,289,0 1 116310967 116310967 T C exonic CASQ2 nonsynonymous SNV CASQ2:NM_001232:exon1:c.A196G:p.T66A 0.4 0.49 0.37 0.52 0.29 0.3 0.3265 0.4538 0.3635 0.5483 0.2731 0.2837 0.3040 0.2999 0.34 0.44 0.29 0.47 0.29 rs4074536 COSM1332993 2(haematopoietic_and_lymphoid_tissue);6(soft_tissue) Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000037136.4|RCV000247814.1|RCV000389613.1 MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|C1631597:ORPHA3286 . . . . . . 0.943 0.022 T 0.0 0.026 B 0.0 0.013 B 0.025 0.261 N 1 0.090 P -1.7 0.004 N 1.18 0.377 T 0.49 0.030 N 0.001 0.001 -0.939 0.428 T 0.006 0.022 T . . . -1.622 0.014 0.002 0.183 0.006 0.077 0.136 N c -1.332 -1.173 0.999 0.398 0.497 0.185 0 3.44 0.383 1.629 0.365 -0.462 0.055 0.308 0.252 0.003 0.074 8.620 0.328 Thioredoxin-like fold ENSG00000118729.10|ENSG00000118729.10 Artery_Coronary|Artery_Tibial 0.3281 0.4565 0.3604 0.2596 0.5498 0.2770 0.2901 0.3256 0.3019 0.3281 0.4433 0.3513 0.2583 0.5479 0.2668 0.2547 0.2912 het 3885.43 250 1 116310967 . T C 3885.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.003;DP=250;DS;Dels=0.00;FS=5.103;HRun=0;HaplotypeScore=0.9997;MQ=59.51;MQ0=0;MQRankSum=-0.453;QD=15.54;ReadPosRankSum=-0.941;VQSLOD=5.8132;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3298,0,3039 1 116534852 116534852 C T exonic SLC22A15 synonymous SNV SLC22A15:NM_018420:exon2:c.C288T:p.S96S 0.44 0.14 0.48 0.42 0.64 0.61 0.5994 0.2314 0.5207 0.4712 0.6066 0.6577 0.6051 0.6337 0.49 0.2 0.62 0.43 . rs4046190 COSM5427800;COSM5427801 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5575 0.1751 0.4725 0.6145 0.4072 0.5614 0.6338 0.5672 0.6190 0.4833 0.1955 0.5060 0.5993 0.4056 0.5638 0.6295 0.5888 het 102.86 18 1 116534852 . C T 102.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.899;DP=18;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.369;QD=5.71;ReadPosRankSum=-0.264;VQSLOD=4.6704;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:133,0,356 1 116569530 116569530 G C exonic SLC22A15 synonymous SNV SLC22A15:NM_018420:exon5:c.G615C:p.L205L 0.9 0.85 0.87 0.87 0.95 0.98 0.9283 0.8637 0.8310 0.8953 0.8975 0.9505 0.9222 0.9750 0.93 0.88 0.95 0.83 . rs2488429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9249 0.8640 0.8346 0.9761 0.8940 0.8982 0.9516 0.9396 0.9740 0.9164 0.8665 0.8854 0.9834 0.8951 0.9012 0.9512 0.9235 hom 6858.49 220 1 116569530 . G C 6858.49 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.41;MQ0=0;QD=31.17;VQSLOD=9.2856;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:6858,539,0 1 116655272 116655272 C T exonic MAB21L3 synonymous SNV MAB21L3:NM_152367:exon2:c.C36T:p.C12C 0.017 0.003 0.026 . 0.055 0.0082 0.0404 0.0108 0.0114 0 0.0595 0.0599 0.0396 0.0144 0.042 0.013 0.057 0.022 0.025 rs61788520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0395 0.0107 0.0139 0.0307 0 0.0594 0.0607 0.0387 0.0156 0.0464 0.0124 0.0239 0.0430 0 0.0555 0.0694 0.0617 het 385.47 65 1 116655272 . C T 385.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.594;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8398;MQ=58.41;MQ0=0;MQRankSum=0.728;QD=5.93;ReadPosRankSum=0.353;VQSLOD=3.5539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,19:65:99:415,0,1265 1 117487710 117487710 A G exonic PTGFRN synonymous SNV PTGFRN:NM_020440:exon3:c.A828G:p.P276P 0.86 0.75 0.92 0.85 0.9 0.93 0.8916 0.7868 0.9092 0.8467 0.8411 0.9063 0.8908 0.9275 0.64 0.53 0.7 . 0.92 rs10159095 COSM3750268 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8942 0.7820 0.9112 0.9237 0.8511 0.8457 0.9096 0.8927 0.9254 0.8610 0.7812 0.8849 0.9167 0.8708 0.8477 0.9056 0.8801 hom 1943.39 60 1 117487710 . A G 1943.39 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.13;MQ0=0;QD=32.39;VQSLOD=8.8598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1976,165,0 1 117487711 117487711 T A exonic PTGFRN nonsynonymous SNV PTGFRN:NM_020440:exon3:c.T829A:p.S277T 0.86 0.75 0.92 0.85 0.9 0.93 0.8916 0.7867 0.9095 0.8464 0.8410 0.9063 0.8908 0.9275 0.64 0.52 0.7 . 0.92 rs4546904 COSM3750269 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.090 P -2.28 0.001 N 3.82 0.038 T 1.76 0.005 N 0.05 0.031 -0.918 0.458 T 0.001 0.004 T . . . 1.073 0.197 11.07 0.224 0.009 0.095 0.150 N c -0.776 -0.494 0.612 0.218 0.707 0.730 0 5.49 0.809 4.223 0.581 0.181 0.247 0.998 0.411 0.906 0.385 10.223 0.422 Immunoglobulin-like domain . . 0.8942 0.7817 0.9111 0.9241 0.8511 0.8459 0.9096 0.8928 0.9254 0.8612 0.7814 0.8849 0.9167 0.8708 0.8477 0.9059 0.8793 hom 1942.37 61 1 117487711 . T A 1942.37 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.16;MQ0=0;QD=31.84;VQSLOD=8.4627;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1975,168,0 1 117554421 117554421 A G exonic CD101 nonsynonymous SNV CD101:NM_001256106:exon3:c.A674G:p.N225S,CD101:NM_001256109:exon3:c.A674G:p.N225S,CD101:NM_001256111:exon3:c.A488G:p.N163S,CD101:NM_004258:exon3:c.A674G:p.N225S 0.15 0.035 0.2 0.064 0.34 0.17 0.2482 0.0761 0.1506 0.0757 0.2931 0.3277 0.2671 0.1752 0.24 0.089 0.32 0.11 0.34 rs3754112 COSM1178399 1(pancreas);1(prostate) . . . . . . . . . . . 0.054 0.386 T 0.0 0.026 B 0.001 0.040 B 0.287 0.148 N 0.992 0.239 P -0.375 0.030 N -0.07 0.638 T -1.04 0.273 N 0.004 0.000 -1.082 0.069 T 0.038 0.165 T . . . -0.854 0.038 0.033 0.826 0.138 0.837 0.425 D c -1.070 -1.024 0.111 0.167 0.554 0.246 0 -2.28 0.064 0.905 0.279 -0.657 0.040 0.965 0.337 0.002 0.062 6.094 0.191 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.2498 0.0698 0.1576 0.4370 0.0772 0.2917 0.3226 0.2871 0.1764 0.2291 0.0781 0.2148 0.3874 0.0611 0.2871 0.3184 0.2413 hom 2148.41 70 1 117554421 . A G 2148.41 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.73;MQ0=0;QD=30.69;VQSLOD=9.1219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2181,169,0 1 117559726 117559726 A G exonic CD101 nonsynonymous SNV CD101:NM_001256106:exon5:c.A1243G:p.M415V,CD101:NM_001256109:exon5:c.A1243G:p.M415V,CD101:NM_001256111:exon5:c.A1057G:p.M353V,CD101:NM_004258:exon5:c.A1243G:p.M415V 0.94 0.97 0.96 0.85 0.96 0.94 0.9518 0.9712 0.9412 0.8401 0.9072 0.9709 0.9438 0.9463 0.98 0.97 0.98 0.92 0.96 rs2249265 COSM4415811 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.681 0.102 N 1 0.090 P -1.6 0.004 N -0.1 0.643 T 1.3 0.010 N 0.013 0.007 -1.053 0.135 T 0.011 0.039 T . . . -3.288 0.001 0.001 0.478 0.039 0.003 0.017 N c -2.239 -2.220 1.000 0.747 0.554 0.246 0 -8.2 0.009 -1.528 0.023 -2.023 0.005 0.000 0.063 0.000 0.016 1.287 0.019 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9511 0.9696 0.9472 0.9733 0.8412 0.9108 0.9742 0.9539 0.9462 0.9573 0.9718 0.9368 0.9768 0.8728 0.9118 0.9705 0.9398 hom 4946.89 170 1 117559726 . A G 4946.89 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=29.10;VQSLOD=8.9255;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:4946,409,0 1 117617705 117617705 A G exonic TTF2 nonsynonymous SNV TTF2:NM_003594:exon5:c.A499G:p.K167E 0.51 0.12 0.67 0.77 0.59 0.6 0.5755 0.1880 0.6958 0.7424 0.5256 0.5953 0.5793 0.5861 0.47 0.21 0.6 0.41 0.56 rs998532 COSM3750274 1(large_intestine) . . . . . . . . . . . 0.12 0.279 T 0.006 0.282 B 0.004 0.256 B 0.018 0.275 N 1 0.090 P 1.905 0.510 L -2.32 0.878 D -0.46 0.150 N 0.078 0.069 -0.932 0.438 T 0.224 0.588 T . . . -0.398 0.062 0.390 0.923 0.211 0.670 0.330 D c -0.735 -0.719 0.118 0.168 0.707 0.730 0 0.438 0.157 0.235 0.176 0.230 0.258 0.925 0.319 0.011 0.114 5.315 0.151 . . . 0.5865 0.1771 0.6854 0.6633 0.7487 0.5147 0.5947 0.6002 0.5862 0.4722 0.1978 0.6591 0.6821 0.7391 0.5129 0.5737 0.5514 het 1577.50 126 1 117617705 . A G 1577.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.019;DP=126;Dels=0.00;FS=2.279;HRun=1;HaplotypeScore=2.4328;MQ=59.82;MQ0=0;MQRankSum=-0.510;QD=12.52;ReadPosRankSum=0.784;VQSLOD=6.4078;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,57:126:99:1607,0,1814 1 117618067 117618067 C T exonic TTF2 synonymous SNV TTF2:NM_003594:exon5:c.C861T:p.N287N 0.51 0.11 0.67 0.77 0.59 0.6 0.5747 0.1845 0.6942 0.7417 0.5254 0.5950 0.5795 0.5855 0.47 0.2 0.6 0.41 0.52 rs1289673 COSM3750275 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5858 0.1738 0.6837 0.6632 0.7478 0.5145 0.5944 0.6004 0.5858 0.4713 0.1954 0.6567 0.6821 0.7376 0.5129 0.5739 0.5519 het 2334.90 152 1 117618067 . C T 2334.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.986;DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2762;MQ=59.08;MQ0=0;MQRankSum=0.367;QD=15.36;ReadPosRankSum=1.054;VQSLOD=5.8312;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,85:152:99:2365,0,1881 1 117635413 117635413 A G exonic TTF2 nonsynonymous SNV TTF2:NM_003594:exon18:c.A2866G:p.S956G 0.0088 . 0.0072 . 0.024 0.015 0.0173 0.0034 0.0041 0.0003 0.0278 0.0239 0.0176 0.0131 0.019 0.0036 0.026 0.022 0.016 rs80076283 . . . . . . . . . . . . . 0.14 0.256 T 0.09 0.236 B 0.021 0.181 B 0.013 0.290 N 0.590 0.324 D 2.31 0.663 M -0.96 0.756 T -2.14 0.485 N 0.042 0.022 -1.025 0.220 T 0.151 0.479 T . . . 0.900 0.180 10.07 0.987 0.445 0.831 0.420 D c -0.396 -0.365 1.000 0.747 0.731 0.878 0 1.51 0.220 2.175 0.419 1.088 0.866 1.000 0.715 0.884 0.371 6.575 0.216 . . . 0.0168 0.0041 0.0047 0.0030 0.0002 0.0291 0.0246 0.0131 0.0133 0.0209 0.0057 0.0072 0.0033 0 0.0338 0.0298 0.0244 het 2848.26 211 1 117635413 . A G 2848.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.436;DP=211;DS;Dels=0.00;FS=1.072;HRun=1;HaplotypeScore=4.6143;MQ=58.96;MQ0=0;MQRankSum=1.123;QD=13.50;ReadPosRankSum=-1.094;VQSLOD=5.3495;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,110:211:99:2878,0,2913 1 117656088 117656088 A G exonic TRIM45 nonsynonymous SNV TRIM45:NM_001145635:exon5:c.T1433C:p.M478T,TRIM45:NM_025188:exon5:c.T1487C:p.M496T 0.45 0.68 0.48 0.19 0.44 0.38 0.4145 0.6391 0.4229 0.2104 0.3705 0.4147 0.4249 0.3903 0.48 0.62 0.4 0.41 0.45 rs1289658 COSM5351791 1(kidney) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.096 0.201 N 1.000 0.090 P -1.625 0.004 N 2.08 0.394 T 0.94 0.019 N 0.024 0.396 -0.960 0.391 T 0.009 0.031 T . . . -0.229 0.074 0.952 0.184 0.006 0.030 0.077 N c -1.203 -1.034 0.998 0.364 0.646 0.442 0 3.99 0.454 0.049 0.139 0.076 0.183 0.008 0.178 0.103 0.190 3.883 0.085 Immunoglobulin E-set|Immunoglobulin-like fold ENSG00000134253.5|ENSG00000134258.12 Brain_Cerebellum|Heart_Left_Ventricle 0.4088 0.6407 0.4285 0.3638 0.2124 0.3745 0.4183 0.4061 0.3876 0.4629 0.6322 0.4222 0.37 0.2355 0.3597 0.4192 0.4303 hom 2763.49 88 1 117656088 . A G 2763.49 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=31.40;VQSLOD=9.4976;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2796,229,0 1 117660754 117660754 C T exonic TRIM45 nonsynonymous SNV TRIM45:NM_001145635:exon2:c.G1124A:p.C375Y,TRIM45:NM_025188:exon2:c.G1124A:p.C375Y 0.22 0.21 0.37 0.033 0.35 0.21 0.2936 0.2257 0.3653 0.0312 0.3153 0.3395 0.3117 0.2283 0.3 0.23 0.33 0.22 0.36 rs749902 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.241 0.157 N 0.998 0.221 P 0 0.065 N -1.38 0.818 T 0.09 0.102 N 0.073 0.062 -1.099 0.042 T 0.081 0.321 T . . . -1.255 0.023 0.005 0.273 0.013 0.901 0.507 D c -1.017 -0.873 1.000 0.408 0.672 0.522 0 0.722 0.173 1.401 0.340 0.103 0.200 0.991 0.370 0.937 0.410 5.400 0.155 . ENSG00000134253.5|ENSG00000134258.12|ENSG00000134253.5 Brain_Cerebellum|Heart_Left_Ventricle|Thyroid 0.2969 0.2269 0.3697 0.2708 0.0310 0.3249 0.3417 0.3088 0.2249 0.2896 0.2333 0.3377 0.2649 0.0358 0.3057 0.3412 0.3296 hom 5320.10 177 1 117660754 . C T 5320.10 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4646;MQ=58.81;MQ0=0;MQRankSum=1.713;QD=30.06;ReadPosRankSum=1.497;VQSLOD=5.7228;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,176:177:99:5319,427,0 1 118166096 118166096 C T exonic FAM46C synonymous SNV FAM46C:NM_017709:exon2:c.C606T:p.I202I 0.13 0.016 0.22 0.11 0.16 0.22 0.1704 0.0379 0.2413 0.0886 0.1561 0.1733 0.1869 0.2395 0.13 0.048 0.17 0.13 0.11 rs2884587 COSM4415255 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1779 0.0352 0.2508 0.2108 0.0883 0.1600 0.1728 0.1827 0.2394 0.1255 0.0389 0.2064 0.1921 0.0888 0.1590 0.1635 0.1680 het 2326.64 195 1 118166096 . C T 2326.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.652;DP=195;DS;Dels=0.00;FS=2.549;HRun=1;HaplotypeScore=6.3153;MQ=59.57;MQ0=0;MQRankSum=0.320;QD=11.93;ReadPosRankSum=0.458;VQSLOD=4.9480;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,88:195:99:2357,0,2903 1 118482149 118482149 C T exonic WDR3 nonsynonymous SNV WDR3:NM_006784:exon6:c.C629T:p.A210V 0.025 0.0038 0.04 . 0.086 0.0051 0.0554 0.0133 0.0289 0 0.1044 0.0789 0.0650 0.0146 0.059 0.016 0.081 0.054 0.098 rs34973445 COSM3747505 1(pancreas);1(liver) . . . . . . . . . . . 0.101 0.303 T 0.015 0.158 B 0.051 0.240 B 0.005 0.329 N 1 0.810 D 2.785 0.815 M 0.14 0.609 T -2.11 0.480 N 0.148 0.175 -0.692 0.608 T 0.184 0.534 T . . . 3.714 0.503 23.3 0.997 0.772 0.945 0.611 D c 0.178 0.260 1.000 0.489 0.732 0.924 0 5.0 0.661 5.643 0.673 0.852 0.362 0.912 0.315 0.987 0.523 15.762 0.778 WD40 repeat\x2c conserved site|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.0578 0.0124 0.0344 0.0567 0 0.1060 0.0814 0.0700 0.0157 0.0598 0.0135 0.0480 0.0596 0.0006 0.1040 0.0831 0.0653 het 1751.98 150 1 118482149 . C T 1751.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.510;DP=150;Dels=0.00;FS=3.003;HRun=0;HaplotypeScore=9.3991;MQ=59.66;MQ0=0;MQRankSum=0.359;QD=11.68;ReadPosRankSum=-0.591;VQSLOD=3.6119;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,76:150:99:1782,0,1715 1 118693217 118693217 T C exonic SPAG17 synonymous SNV SPAG17:NM_206996:exon3:c.A264G:p.S88S 0.23 0.013 0.35 0.4 0.24 0.24 0.2430 0.0423 0.4596 0.3825 0.2637 0.2201 0.2544 0.2246 0.16 0.049 0.22 0.25 0.17 rs1935992 COSM423590 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2512 0.0343 0.4322 0.3011 0.3710 0.2686 0.2118 0.2646 0.2190 0.1915 0.0451 0.3747 0.2848 0.3990 0.2747 0.2199 0.2398 hom 1855.82 73 1 118693217 . T C 1855.82 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.10;MQ0=0;QD=25.42;VQSLOD=7.0821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:1889,144,0 1 119923724 119923724 T C exonic HAO2 synonymous SNV HAO2:NM_016527:exon2:c.T16C:p.L6L,HAO2:NM_001005783:exon3:c.T55C:p.L19L 0.36 0.082 0.52 0.45 0.53 0.34 0.4834 0.1409 0.6231 0.4624 0.5885 0.5295 0.4570 0.3855 0.4 0.19 0.52 0.35 0.57 rs2275607 COSM3747508;COSM5426259 1(breast);2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4923 0.1293 0.6103 0.3996 0.4635 0.5813 0.5308 0.4980 0.3854 0.4380 0.1464 0.5692 0.4333 0.4639 0.5904 0.5548 0.55 hom 7897.24 249 1 119923724 . T C 7897.24 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=59.50;MQ0=0;QD=31.72;VQSLOD=9.1335;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7896,611,0 1 120057158 120057158 C T exonic HSD3B1 synonymous SNV HSD3B1:NM_000862:exon4:c.C1012T:p.L338L,HSD3B1:NM_001328615:exon4:c.C1012T:p.L338L 0.37 0.033 0.48 0.65 0.43 0.38 0.4388 0.0873 0.5811 0.6688 0.5474 0.4353 0.4636 0.4103 0.32 0.1 0.43 0.32 0.46 rs6203 COSM3747510 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4522 0.0799 0.5711 0.3555 0.6737 0.5395 0.4361 0.4513 0.4100 0.3701 0.0963 0.5431 0.3841 0.6566 0.5444 0.4424 0.4602 hom 4125.05 122 1 120057158 . C T 4125.05 Mask AC=2;AF=1.00;AN=2;DP=122;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=58.11;MQ0=0;QD=33.81;VQSLOD=8.5323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4124,334,0 1 120057246 120057246 C A exonic HSD3B1 nonsynonymous SNV HSD3B1:NM_000862:exon4:c.C1100A:p.T367N,HSD3B1:NM_001328615:exon4:c.C1100A:p.T367N 0.83 0.91 0.8 0.92 0.66 0.84 0.7554 0.8897 0.8599 0.9376 0.7499 0.6797 0.7322 0.8118 0.75 0.88 0.68 0.79 0.66 rs1047303 COSM3747511 1(liver);1(large_intestine) . . . . . . . . . . . 0.303 0.143 T 0.01 0.172 B 0.022 0.193 B 0.233 0.035 N 1 0.090 P 2.52 0.738 M -0.58 0.714 T -1.11 0.287 N 0.023 0.010 -1.061 0.114 T 0.151 0.479 T . . . -1.422 0.019 0.003 0.264 0.013 0.023 0.066 N c -1.379 -1.470 0.000 0.029 0.487 0.133 0 -0.043 0.131 -0.311 0.081 -2.891 0.002 0.000 0.063 0.000 0.016 4.839 0.128 . . . 0.7546 0.8936 0.8508 0.6642 0.9389 0.7426 0.6743 0.7225 0.8103 0.7697 0.8843 0.8141 0.6887 0.9312 0.7460 0.6915 0.7485 hom 1476.30 51 1 120057246 . C A 1476.30 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8924;MQ=48.85;MQ0=3;QD=28.95;VQSLOD=3.0073;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,48:51:99:1509,132,0 1 120166681 120166681 G A exonic ZNF697 synonymous SNV ZNF697:NM_001080470:exon3:c.C285T:p.S95S 0.67 0.79 0.59 0.78 0.5 0.64 0.5715 0.7843 0.5879 0.8096 0.5402 0.4927 0.5594 0.6407 0.58 0.76 0.49 0.67 . rs12067843 COSM3750292;COSM3750291 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5654 0.7804 0.5902 0.4607 0.8079 0.5354 0.4916 0.5296 0.6258 0.6000 0.7687 0.5742 0.46 0.8100 0.5507 0.4984 0.5479 het 828.57 68 1 120166681 . G A 828.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.319;DP=68;Dels=0.00;FS=0.924;HRun=0;HaplotypeScore=2.6490;MQ=59.11;MQ0=0;MQRankSum=2.111;QD=12.18;ReadPosRankSum=-0.515;VQSLOD=5.8115;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:859,0,839 1 120285546 120285546 G A exonic PHGDH synonymous SNV PHGDH:NM_006623:exon11:c.G1326A:p.T442T 0.72 0.77 0.75 0.62 0.67 0.8 0.6924 0.7533 0.6752 0.6049 0.5797 0.6808 0.7064 0.8029 0.71 0.75 0.68 0.77 0.48 rs543703 COSM3930297;COSM1747675 2(urinary_tract);1(thyroid) Benign Phosphoglycerate_dehydrogenase_deficiency RCV000331261.1 MedGen:OMIM C1866174:601815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6901 0.7533 0.6842 0.7946 0.6033 0.5731 0.6790 0.6999 0.8040 0.6801 0.7588 0.6814 0.7980 0.5975 0.5793 0.6644 0.6786 hom 4269.02 127 1 120285546 . G A 4269.02 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9979;MQ=59.64;MQ0=0;QD=33.61;VQSLOD=9.7625;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4269,349,0 1 120378678 120378678 C T exonic NBPF7 synonymous SNV NBPF7:NM_001047980:exon7:c.G1068A:p.Q356Q 0.63 0.41 0.71 0.47 0.81 0.84 0.7508 0.4449 0.7527 0.4558 0.8238 0.8003 0.7911 0.8532 0.69 0.48 0.79 0.64 0.84 rs3009182 COSM3996786 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7530 0.4392 0.7450 0.7879 0.4584 0.8185 0.7991 0.7864 0.8506 0.6787 0.4433 0.7356 0.7881 0.4560 0.8245 0.7931 0.7837 hom 4148.69 126 1 120378678 . C T 4148.69 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8997;MQ=59.04;MQ0=0;QD=32.93;VQSLOD=9.1529;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4148,322,0 1 120384205 120384205 A G exonic NBPF7 synonymous SNV NBPF7:NM_001047980:exon3:c.T357C:p.V119V 0.62 0.4 0.71 0.47 0.81 0.84 0.7496 0.4393 0.7530 0.4575 0.8236 0.8007 0.7914 0.8530 0.68 0.45 0.79 0.087 0.84 rs2994820 COSM3996787 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7525 0.4295 0.7453 0.7883 0.4590 0.8182 0.7995 0.7860 0.8504 0.6769 0.4361 0.7327 0.7914 0.4555 0.8240 0.7938 0.7844 hom 8061.98 241 1 120384205 . A G 8061.98 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;QD=33.45;VQSLOD=8.6232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:8061,635,0 1 120387120 120387120 G A exonic NBPF7 synonymous SNV NBPF7:NM_001047980:exon1:c.C39T:p.T13T 0.36 0.042 0.48 0.36 0.58 0.46 0.5077 0.1062 0.4610 0.3709 0.5219 0.5857 0.5509 0.5240 0.42 0.12 0.57 0.18 0.58 rs12405228 COSM4416125 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5118 0.0962 0.4696 0.6437 0.3731 0.5215 0.5835 0.5544 0.5247 0.4174 0.1157 0.4868 0.6291 0.3702 0.5206 0.5595 0.5214 hom 5800.55 172 1 120387120 . G A 5800.55 Mask AC=2;AF=1.00;AN=2;DP=172;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5564;MQ=58.95;MQ0=0;QD=33.72;VQSLOD=9.0591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5800,445,0 1 120436787 120436787 G A exonic ADAM30 synonymous SNV ADAM30:NM_021794:exon1:c.C2173T:p.L725L . . . . . . 4.121e-05 0 8.637e-05 0 0 5.995e-05 0 0 0.0001 . 0.0001 . . rs375307271 COSM5968763 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.481e-05 0 5.977e-05 0 0 0 8.074e-05 0 0 . . . . . . . . het 1869.98 175 1 120436787 . G A 1869.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.683;DP=175;DS;Dels=0.00;FS=1.406;HRun=1;HaplotypeScore=6.8202;MQ=58.97;MQ0=0;MQRankSum=-0.107;QD=10.69;ReadPosRankSum=0.371;VQSLOD=3.1701;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,73:175:99:1900,0,2729 1 120612003 120612004 GG - exonic NOTCH2 frameshift deletion NOTCH2:NM_001200001:exon1:c.17_18del:p.P6Rfs*25,NOTCH2:NM_024408:exon1:c.17_18del:p.P6Rfs*26 . . . . . . 0.4057 0.4075 0.4190 0.3707 0.3725 0.4018 0.3892 0.4387 . . . . . rs372504208 COSM132830 3(breast);2(NS);1(haematopoietic_and_lymphoid_tissue);1(stomach);1(kidney);2(urinary_tract);1(pancreas);3(oesophagus);1(skin);1(lung);2(upper_aerodigestive_tract);2(large_intestine);2(central_nervous_system) Benign not_specified RCV000202675.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1800 0.2102 0.1169 0.1379 0.1142 0.2665 0.2152 0.1264 0.1600 0.0832 0.1426 0.0356 0.0893 0.0528 0.0095 0.0877 0.0616 het 135.54 15 1 120612002 . CGG C 135.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.184;DP=15;FS=2.363;HRun=4;HaplotypeScore=111.2955;MQ=40.77;MQ0=1;MQRankSum=-1.041;QD=7.97;ReadPosRankSum=-0.674;set=variant2 GT:AD:DP:GQ:PL 0/1:12,5:15:99:175,0,363 1 144865850 144865850 G T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon31:c.C6216A:p.D2072E,PDE4DIP:NM_001198834:exon35:c.C5730A:p.D1910E,PDE4DIP:NM_014644:exon35:c.C5730A:p.D1910E,PDE4DIP:NM_001198832:exon37:c.C5412A:p.D1804E,PDE4DIP:NM_001350523:exon37:c.C5409A:p.D1803E,PDE4DIP:NM_001350521:exon38:c.C6141A:p.D2047E,PDE4DIP:NM_001350522:exon38:c.C5928A:p.D1976E . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.5 rs1613780 COSM4590805;COSM4590806;COSM4590804 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2765.10 250 1 144865850 . G T 2765.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.316;DP=250;DS;Dels=0.00;FS=0.472;HRun=2;HaplotypeScore=6.7434;MQ=58.06;MQ0=0;MQRankSum=-2.273;QD=11.06;ReadPosRankSum=-0.073;VQSLOD=2.5012;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:150,100:250:99:2795,0,4662 1 144866643 144866643 G A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon30:c.C6085T:p.R2029C,PDE4DIP:NM_001198834:exon34:c.C5599T:p.R1867C,PDE4DIP:NM_014644:exon34:c.C5599T:p.R1867C,PDE4DIP:NM_001198832:exon36:c.C5281T:p.R1761C,PDE4DIP:NM_001350523:exon36:c.C5278T:p.R1760C,PDE4DIP:NM_001350521:exon37:c.C6010T:p.R2004C,PDE4DIP:NM_001350522:exon37:c.C5797T:p.R1933C . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.292 -0.330 1.000 0.500 0.563 0.310 0 2.24 0.271 1.345 0.333 0.024 0.147 1.000 0.715 0.868 0.363 6.287 0.201 . . . . . . . . . . . . . . . . . . . . het 3041.85 241 1 144866643 . G A 3041.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.878;DP=241;DS;Dels=0.00;FS=0.505;HRun=0;HaplotypeScore=1.8930;MQ=58.70;MQ0=0;MQRankSum=2.374;QD=12.62;ReadPosRankSum=-0.577;VQSLOD=4.9514;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,107:241:99:3072,0,3528 1 144866662 144866662 T C exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon30:c.A6066G:p.E2022E,PDE4DIP:NM_001198834:exon34:c.A5580G:p.E1860E,PDE4DIP:NM_014644:exon34:c.A5580G:p.E1860E,PDE4DIP:NM_001198832:exon36:c.A5262G:p.E1754E,PDE4DIP:NM_001350523:exon36:c.A5259G:p.E1753E,PDE4DIP:NM_001350521:exon37:c.A5991G:p.E1997E,PDE4DIP:NM_001350522:exon37:c.A5778G:p.E1926E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.155 -0.125 1.000 0.423 0.563 0.310 0 2.05 0.257 1.112 0.306 0.076 0.183 1.000 0.715 1.000 0.888 6.847 0.230 . . . . . . . . . . . . . . . . . . . . het 2848.48 231 1 144866662 . T C 2848.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.013;DP=231;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4130;MQ=59.11;MQ0=0;MQRankSum=0.422;QD=12.33;ReadPosRankSum=0.143;VQSLOD=4.4236;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,105:231:99:2878,0,3376 1 144868170 144868170 C T exonic;splicing PDE4DIP;LOC100996724 NR_144517:exon32:c.5686-1G>A nonsynonymous SNV PDE4DIP:NM_001350520:exon29:c.G5755A:p.A1919T,PDE4DIP:NM_001198834:exon33:c.G5269A:p.A1757T,PDE4DIP:NM_014644:exon33:c.G5269A:p.A1757T,PDE4DIP:NM_001198832:exon35:c.G4951A:p.A1651T,PDE4DIP:NM_001350523:exon35:c.G4948A:p.A1650T,PDE4DIP:NM_001350521:exon36:c.G5680A:p.A1894T,PDE4DIP:NM_001350522:exon36:c.G5467A:p.A1823T . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.5 rs1628310 COSM4591253;COSM4591251;COSM4591252 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 1598.70 119 1 144868170 . C T 1598.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.250;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2866;MQ=58.77;MQ0=0;MQRankSum=0.653;QD=13.43;ReadPosRankSum=-0.254;VQSLOD=4.8313;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,64:119:99:1629,0,1558 1 144871738 144871738 C A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon28:c.G5710T:p.A1904S,PDE4DIP:NM_001198834:exon32:c.G5224T:p.A1742S,PDE4DIP:NM_014644:exon32:c.G5224T:p.A1742S,PDE4DIP:NM_001350521:exon35:c.G5635T:p.A1879S,PDE4DIP:NM_001350522:exon35:c.G5422T:p.A1808S . . . . . . 0.5000 0.5 0.5 0.4998 0.5 0.5 0.5 0.5 . . . 0.46 0.46 rs1698605 COSM4591246;COSM4591247 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2624.09 249 1 144871738 . C A 2624.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.518;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9096;MQ=59.50;MQ0=0;MQRankSum=-0.531;QD=10.54;ReadPosRankSum=-2.530;VQSLOD=4.0743;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:142,107:249:99:2654,0,4016 1 144871755 144871755 A T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon28:c.T5693A:p.V1898E,PDE4DIP:NM_001198834:exon32:c.T5207A:p.V1736E,PDE4DIP:NM_014644:exon32:c.T5207A:p.V1736E,PDE4DIP:NM_001350521:exon35:c.T5618A:p.V1873E,PDE4DIP:NM_001350522:exon35:c.T5405A:p.V1802E . . . . . . 0.5000 0.5 0.5 0.4998 0.5 0.5000 0.5 0.5 . . . 0.47 0.48 rs1778159 COSM4591750;COSM4591751 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2288.37 236 1 144871755 . A T 2288.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.639;DP=236;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4750;MQ=59.48;MQ0=0;MQRankSum=1.281;QD=9.70;ReadPosRankSum=0.838;VQSLOD=5.5218;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:147,89:236:99:2318,0,4059 1 144871782 144871782 A G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon28:c.T5666C:p.L1889P,PDE4DIP:NM_001198834:exon32:c.T5180C:p.L1727P,PDE4DIP:NM_014644:exon32:c.T5180C:p.L1727P,PDE4DIP:NM_001350521:exon35:c.T5591C:p.L1864P,PDE4DIP:NM_001350522:exon35:c.T5378C:p.L1793P . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.42 0.49 rs1778158 COSM4591746;COSM4591747 23(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2552.48 223 1 144871782 . A G 2552.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.964;DP=223;DS;Dels=0.00;FS=1.099;HRun=2;HaplotypeScore=5.6287;MQ=59.26;MQ0=0;MQRankSum=0.326;QD=11.45;ReadPosRankSum=0.512;VQSLOD=4.6346;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,95:223:99:2582,0,3657 1 144873887 144873887 C T exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon27:c.G5556A:p.Q1852Q,PDE4DIP:NM_001198834:exon31:c.G5070A:p.Q1690Q,PDE4DIP:NM_014644:exon31:c.G5070A:p.Q1690Q,PDE4DIP:NM_001198832:exon34:c.G4938A:p.Q1646Q,PDE4DIP:NM_001350521:exon34:c.G5481A:p.Q1827Q,PDE4DIP:NM_001350522:exon34:c.G5268A:p.Q1756Q,PDE4DIP:NM_001350523:exon34:c.G4935A:p.Q1645Q . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.51 rs1699787 COSM4594994;COSM4594995;COSM4594996 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4508.49 250 1 144873887 . C T 4508.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.963;DP=250;DS;Dels=0.00;FS=3.213;HRun=1;HaplotypeScore=6.5547;MQ=58.43;MQ0=0;MQRankSum=0.183;QD=18.03;ReadPosRankSum=0.284;VQSLOD=3.3433;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3819,0,3560 1 144874760 144874760 T C exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon26:c.A5334G:p.E1778E,PDE4DIP:NM_001198834:exon30:c.A4848G:p.E1616E,PDE4DIP:NM_014644:exon30:c.A4848G:p.E1616E,PDE4DIP:NM_001198832:exon33:c.A4716G:p.E1572E,PDE4DIP:NM_001350521:exon33:c.A5259G:p.E1753E,PDE4DIP:NM_001350522:exon33:c.A5046G:p.E1682E,PDE4DIP:NM_001350523:exon33:c.A4713G:p.E1571E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.320 0.052 1.000 0.517 0.563 0.310 0 2.86 0.323 0.876 0.275 -0.391 0.064 0.995 0.385 0.991 0.552 11.23 0.479 Neuroblastoma breakpoint family (NBPF) domain . . . . . . . . . . . . . . . . . . . het 4180.60 250 1 144874760 . T C 4180.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.716;DP=250;DS;Dels=0.00;FS=2.895;HRun=0;HaplotypeScore=4.4157;MQ=59.39;MQ0=0;MQRankSum=-0.114;QD=16.72;ReadPosRankSum=0.484;VQSLOD=4.6538;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3469,0,3888 1 144874815 144874815 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon26:c.A5279G:p.H1760R,PDE4DIP:NM_001198834:exon30:c.A4793G:p.H1598R,PDE4DIP:NM_014644:exon30:c.A4793G:p.H1598R,PDE4DIP:NM_001198832:exon33:c.A4661G:p.H1554R,PDE4DIP:NM_001350521:exon33:c.A5204G:p.H1735R,PDE4DIP:NM_001350522:exon33:c.A4991G:p.H1664R,PDE4DIP:NM_001350523:exon33:c.A4658G:p.H1553R . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -1.261 -1.284 1.000 0.747 0.661 0.498 0 -6.68 0.016 -0.002 0.128 -1.466 0.011 0.001 0.137 0.372 0.250 16.709 0.852 Neuroblastoma breakpoint family (NBPF) domain . . . . . . . . . . . . . . . . . . . het 2031.12 233 1 144874815 . T C 2031.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.270;DP=233;DS;Dels=0.00;FS=2.756;HRun=0;HaplotypeScore=6.1456;MQ=59.46;MQ0=0;MQRankSum=1.155;QD=8.72;ReadPosRankSum=-1.070;VQSLOD=3.4582;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:147,86:233:99:2061,0,4500 1 144879090 144879090 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.A4846G:p.K1616E,PDE4DIP:NM_001198834:exon27:c.A4360G:p.K1454E,PDE4DIP:NM_014644:exon27:c.A4360G:p.K1454E,PDE4DIP:NM_001198832:exon30:c.A4228G:p.K1410E,PDE4DIP:NM_001350521:exon30:c.A4771G:p.K1591E,PDE4DIP:NM_001350522:exon30:c.A4558G:p.K1520E,PDE4DIP:NM_001350523:exon30:c.A4225G:p.K1409E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c 0.265 0.222 1.000 0.747 0.563 0.310 0 5.29 0.743 1.686 0.371 0.945 0.533 0.002 0.151 0.991 0.552 11.540 0.497 . . . . . . . . . . . . . . . . . . . . het 1272.74 217 1 144879090 . T C 1272.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.582;DP=217;DS;Dels=0.00;FS=1.372;HRun=0;HaplotypeScore=2.7220;MQ=59.23;MQ0=0;MQRankSum=1.725;QD=5.87;ReadPosRankSum=-0.344;VQSLOD=4.4363;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:161,56:217:99:1303,0,5068 1 144879264 144879264 A G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.T4672C:p.W1558R,PDE4DIP:NM_001198834:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_014644:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_001198832:exon30:c.T4054C:p.W1352R,PDE4DIP:NM_001350521:exon30:c.T4597C:p.W1533R,PDE4DIP:NM_001350522:exon30:c.T4384C:p.W1462R,PDE4DIP:NM_001350523:exon30:c.T4051C:p.W1351R 0.71 0.54 0.72 0.93 0.65 0.77 0.6879 0.5460 0.8080 0.9285 0.6678 0.6427 0.6839 0.7580 . . . 0.66 0.68 rs2798901 COSM4591662;COSM4591664;COSM4591663 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6917 0.5439 0.7866 0.6414 0.9246 0.6690 0.6390 0.6765 0.7569 0.6344 0.5459 0.7303 0.6424 0.9090 0.6683 0.6407 0.6684 hom 5569.49 185 1 144879264 . A G 5569.49 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.2636;MQ=58.88;MQ0=0;QD=30.11;VQSLOD=6.4967;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5568,454,0 1 144879375 144879375 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.A4561G:p.K1521E,PDE4DIP:NM_001198834:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_014644:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_001198832:exon30:c.A3943G:p.K1315E,PDE4DIP:NM_001350521:exon30:c.A4486G:p.K1496E,PDE4DIP:NM_001350522:exon30:c.A4273G:p.K1425E,PDE4DIP:NM_001350523:exon30:c.A3940G:p.K1314E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.815 -0.742 1.000 0.473 0.563 0.310 0 -0.444 0.116 0.144 0.158 0.041 0.156 0.267 0.248 0.917 0.393 7.421 0.261 . . . . . . . . . . . . . . . . . . . . het 4049.69 250 1 144879375 . T C 4049.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.744;DP=250;DS;Dels=0.00;FS=0.486;HRun=0;HaplotypeScore=5.2355;MQ=58.96;MQ0=0;MQRankSum=-0.327;QD=16.20;ReadPosRankSum=-1.625;VQSLOD=3.9524;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,122:250:99:3369,0,3642 1 144882581 144882581 A G exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon20:c.T3927C:p.I1309I,PDE4DIP:NM_001198834:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_014644:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_001350521:exon27:c.T3849C:p.I1283I,PDE4DIP:NM_001350522:exon27:c.T3636C:p.I1212I . . . . . . 0.5000 0.5 0.5 0.5 0.4998 0.5000 0.5 0.4999 . . . 0.5 0.51 rs1699836 COSM4595251;COSM4595252 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.4998 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3902.08 250 1 144882581 . A G 3902.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.447;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2205;MQ=57.49;MQ0=2;MQRankSum=0.822;QD=15.61;ReadPosRankSum=0.364;VQSLOD=3.3979;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,132:250:99:3269,0,3204 1 144882823 144882823 C T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon20:c.G3685A:p.A1229T,PDE4DIP:NM_001198834:exon24:c.G3196A:p.A1066T,PDE4DIP:NM_014644:exon24:c.G3196A:p.A1066T,PDE4DIP:NM_001198832:exon27:c.G3394A:p.A1132T,PDE4DIP:NM_001350521:exon27:c.G3607A:p.A1203T,PDE4DIP:NM_001350522:exon27:c.G3394A:p.A1132T,PDE4DIP:NM_001350523:exon27:c.G3394A:p.A1132T . . . . . . 0.5000 0.5 0.5 0.5 0.4998 0.5000 0.5 0.4999 . . . 0.5 0.5 rs1698647 COSM4591245;COSM4591243;COSM4591244 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3225.28 249 1 144882823 . C T 3225.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.006;DP=249;DS;Dels=0.00;FS=4.276;HRun=2;HaplotypeScore=7.4280;MQ=58.54;MQ0=0;MQRankSum=0.282;QD=12.95;ReadPosRankSum=-1.395;VQSLOD=3.7191;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:3255,0,4064 1 144886197 144886197 A T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon19:c.T3526A:p.F1176I,PDE4DIP:NM_001198834:exon23:c.T3037A:p.F1013I,PDE4DIP:NM_014644:exon23:c.T3037A:p.F1013I,PDE4DIP:NM_001198832:exon26:c.T3235A:p.F1079I,PDE4DIP:NM_001350521:exon26:c.T3448A:p.F1150I,PDE4DIP:NM_001350522:exon26:c.T3235A:p.F1079I,PDE4DIP:NM_001350523:exon26:c.T3235A:p.F1079I . . . . . . 0.5000 0.5 0.5 0.5 0.4998 0.5000 0.5 0.4999 . . . 0.5 0.51 rs1698624 COSM4142486;COSM4142487;COSM4142488 1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4089.37 249 1 144886197 . A T 4089.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.362;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3850;MQ=59.31;MQ0=0;MQRankSum=1.102;QD=16.42;ReadPosRankSum=-0.623;VQSLOD=4.2501;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,129:249:99:3456,0,3124 1 144912153 144912153 A G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001350520:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001002812:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198834:exon15:c.T2122C:p.C708R,PDE4DIP:NM_014644:exon15:c.T2122C:p.C708R,PDE4DIP:NM_001198832:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350521:exon18:c.T2533C:p.C845R,PDE4DIP:NM_001350522:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350523:exon18:c.T2320C:p.C774R 0.88 0.92 0.89 0.94 0.8 0.85 0.8255 0.9040 0.9162 0.9281 0.7734 0.7893 0.8304 0.8259 0.83 0.89 0.79 0.91 0.75 rs1628172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8268 0.9064 0.9087 0.7831 0.9298 0.7753 0.7899 0.8282 0.8255 0.8278 0.8993 0.8878 0.7781 0.9165 0.7715 0.7879 0.8211 hom 3731.64 134 1 144912153 . A G 3731.64 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=8.2510;MQ=58.54;MQ0=0;QD=27.44;VQSLOD=3.6788;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,133:134:99:3731,298,0 1 144912233 144912233 C T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001350520:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001002812:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198834:exon15:c.G2042A:p.R681H,PDE4DIP:NM_014644:exon15:c.G2042A:p.R681H,PDE4DIP:NM_001198832:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350521:exon18:c.G2453A:p.R818H,PDE4DIP:NM_001350522:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350523:exon18:c.G2240A:p.R747H . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.47 rs1629011 COSM4591491;COSM4591489;COSM4591488;COSM4591487;COSM4591490 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 1374.08 103 1 144912233 . C T 1374.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.633;DP=103;Dels=0.00;FS=1.721;HRun=0;HaplotypeScore=1.6647;MQ=57.75;MQ0=0;MQRankSum=-1.279;QD=13.34;ReadPosRankSum=0.327;VQSLOD=3.7808;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,55:103:99:1404,0,1159 1 144915624 144915624 G - exonic PDE4DIP frameshift deletion PDE4DIP:NM_001002811:exon10:c.2290delC:p.L764Cfs*11,PDE4DIP:NM_001350520:exon10:c.2290delC:p.L764Cfs*11,PDE4DIP:NM_001002812:exon14:c.1801delC:p.L601Cfs*11,PDE4DIP:NM_001198834:exon14:c.1801delC:p.L601Cfs*11,PDE4DIP:NM_014644:exon14:c.1801delC:p.L601Cfs*11,PDE4DIP:NM_001198832:exon17:c.1999delC:p.L667Cfs*11,PDE4DIP:NM_001350521:exon17:c.2212delC:p.L738Cfs*11,PDE4DIP:NM_001350522:exon17:c.1999delC:p.L667Cfs*11,PDE4DIP:NM_001350523:exon17:c.1999delC:p.L667Cfs*11 . . . . . . 0.1924 0.0367 0.2842 0.3971 0.2208 0.1737 0.1960 0.1836 0.13 0.048 0.17 0.11 0.098 rs66512216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1587 0.0261 0.2254 0.0755 0.3765 0.1820 0.1376 0.1463 0.1391 0.1363 0.0333 0.2245 0.0966 0.3759 0.2005 0.1534 0.1732 het 1674.04 220 1 144915623 . AG A 1674.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.022;DP=220;DS;FS=4.632;HRun=1;HaplotypeScore=773.8255;MQ=48.87;MQ0=5;MQRankSum=-4.148;QD=7.34;ReadPosRankSum=-0.153;set=variant2 GT:AD:DP:GQ:PL 0/1:166,62:220:99:1713,0,5529 1 144916748 144916748 C G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon9:c.G2096C:p.S699T,PDE4DIP:NM_001350520:exon9:c.G2096C:p.S699T,PDE4DIP:NM_001002812:exon13:c.G1607C:p.S536T,PDE4DIP:NM_001198834:exon13:c.G1607C:p.S536T,PDE4DIP:NM_014644:exon13:c.G1607C:p.S536T,PDE4DIP:NM_001198832:exon16:c.G1805C:p.S602T,PDE4DIP:NM_001350521:exon16:c.G2018C:p.S673T,PDE4DIP:NM_001350522:exon16:c.G1805C:p.S602T,PDE4DIP:NM_001350523:exon16:c.G1805C:p.S602T . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.49 rs1747930 COSM4591224;COSM4591220;COSM4591223;COSM4591222;COSM4591221 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2852.31 224 1 144916748 . C G 2852.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.093;DP=224;DS;Dels=0.00;FS=1.341;HRun=0;HaplotypeScore=8.4428;MQ=58.92;MQ0=0;MQRankSum=-0.254;QD=12.73;ReadPosRankSum=0.283;VQSLOD=3.9623;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,107:224:99:2882,0,3480 1 144917546 144917546 A G exonic PDE4DIP synonymous SNV PDE4DIP:NM_001002811:exon8:c.T2047C:p.L683L,PDE4DIP:NM_001350520:exon8:c.T2047C:p.L683L,PDE4DIP:NM_001002812:exon12:c.T1558C:p.L520L,PDE4DIP:NM_001198834:exon12:c.T1558C:p.L520L,PDE4DIP:NM_014644:exon12:c.T1558C:p.L520L,PDE4DIP:NM_001198832:exon15:c.T1756C:p.L586L,PDE4DIP:NM_001350521:exon15:c.T1969C:p.L657L,PDE4DIP:NM_001350522:exon15:c.T1756C:p.L586L,PDE4DIP:NM_001350523:exon15:c.T1756C:p.L586L . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.51 rs1698682 COSM4595182;COSM4595184;COSM4595185;COSM4595183;COSM4595181 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4019.23 241 1 144917546 . A G 4019.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.756;DP=241;DS;Dels=0.00;FS=10.322;HRun=1;HaplotypeScore=5.5741;MQ=59.37;MQ0=0;MQRankSum=0.937;QD=16.68;ReadPosRankSum=0.561;VQSLOD=3.3791;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,111:241:99:3335,0,3967 1 144918957 144918957 T A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon6:c.A1718T:p.E573V,PDE4DIP:NM_001350520:exon6:c.A1718T:p.E573V,PDE4DIP:NM_001002812:exon10:c.A1229T:p.E410V,PDE4DIP:NM_001198834:exon10:c.A1229T:p.E410V,PDE4DIP:NM_014644:exon10:c.A1229T:p.E410V,PDE4DIP:NM_001198832:exon13:c.A1427T:p.E476V,PDE4DIP:NM_001350521:exon13:c.A1640T:p.E547V,PDE4DIP:NM_001350522:exon13:c.A1427T:p.E476V,PDE4DIP:NM_001350523:exon13:c.A1427T:p.E476V . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.5 rs1061308 COSM4590157;COSM4590160;COSM4590159;COSM4590161;COSM4590158 3(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3014.49 249 1 144918957 . T A 3014.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.002;DP=249;DS;Dels=0.00;FS=4.949;HRun=0;HaplotypeScore=4.8350;MQ=57.88;MQ0=0;MQRankSum=-0.638;QD=12.11;ReadPosRankSum=-0.123;VQSLOD=3.8019;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:3044,0,3705 1 144922583 144922583 G A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon3:c.C1313T:p.S438L,PDE4DIP:NM_001350520:exon3:c.C1313T:p.S438L,PDE4DIP:NM_001002812:exon7:c.C824T:p.S275L,PDE4DIP:NM_001198834:exon7:c.C824T:p.S275L,PDE4DIP:NM_014644:exon7:c.C824T:p.S275L,PDE4DIP:NM_001198832:exon10:c.C1022T:p.S341L,PDE4DIP:NM_001350521:exon10:c.C1235T:p.S412L,PDE4DIP:NM_001350522:exon10:c.C1022T:p.S341L,PDE4DIP:NM_001350523:exon10:c.C1022T:p.S341L . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.109 0.032 1.000 0.462 0.707 0.730 0 3.2 0.357 1.242 0.321 0.871 0.380 0.818 0.297 0.928 0.402 4.776 0.125 . . . . . . . . . . . . . . . . . . . . het 4051.23 250 1 144922583 . G A 4051.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.205;DP=250;DS;Dels=0.00;FS=2.184;HRun=1;HaplotypeScore=5.4162;MQ=58.93;MQ0=0;MQRankSum=2.273;QD=16.20;ReadPosRankSum=-1.755;VQSLOD=3.1244;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3358,0,3529 1 144923729 144923729 T - exonic PDE4DIP frameshift deletion PDE4DIP:NM_001002811:exon2:c.1218delA:p.E406Dfs*22,PDE4DIP:NM_001350520:exon2:c.1218delA:p.E406Dfs*22,PDE4DIP:NM_001002812:exon6:c.729delA:p.E243Dfs*22,PDE4DIP:NM_001198834:exon6:c.729delA:p.E243Dfs*22,PDE4DIP:NM_014644:exon6:c.729delA:p.E243Dfs*22,PDE4DIP:NM_001198832:exon9:c.927delA:p.E309Dfs*22,PDE4DIP:NM_001350521:exon9:c.1140delA:p.E380Dfs*22,PDE4DIP:NM_001350522:exon9:c.927delA:p.E309Dfs*22,PDE4DIP:NM_001350523:exon9:c.927delA:p.E309Dfs*22 0.19 0.011 0.22 0.4 0.18 0.18 0.1929 0.0366 0.2845 0.3985 0.2210 0.1741 0.1960 0.1843 . . . . . rs369106087 COSM4381225;COSM4381226;COSM4381224;COSM4381228;COSM4381227 6(upper_aerodigestive_tract) Benign not_specified RCV000454655.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1730 0.0286 0.2398 0.0917 0.3834 0.2002 0.1516 0.1628 0.1554 0.1349 0.0332 0.2274 0.1020 0.3748 0.2004 0.1507 0.1689 het 1025.61 228 1 144923728 . GT G 1025.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.318;DP=228;DS;FS=0.620;HRun=2;HaplotypeScore=512.8734;MQ=53.98;MQ0=0;MQRankSum=2.335;QD=4.50;ReadPosRankSum=-1.094;set=variant2 GT:AD:DP:GQ:PL 0/1:180,48:228:99:1065,0,7134 1 144930596 144930596 C A exonic PDE4DIP synonymous SNV PDE4DIP:NM_001002811:exon1:c.G1113T:p.P371P,PDE4DIP:NM_001350520:exon1:c.G1113T:p.P371P . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.48 rs2762867 COSM4594942 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2129.28 188 1 144930596 . C A 2129.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.233;DP=188;Dels=0.00;FS=4.337;HRun=0;HaplotypeScore=0.8941;MQ=59.31;MQ0=0;MQRankSum=0.884;QD=11.33;ReadPosRankSum=1.895;VQSLOD=5.0527;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,86:188:99:2159,0,2442 1 144930940 144930940 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.A769G:p.K257E,PDE4DIP:NM_001350520:exon1:c.A769G:p.K257E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.065 -0.018 1.000 0.747 0.733 0.969 0 5.53 0.825 3.491 0.528 1.035 0.655 0.999 0.424 0.878 0.368 13.604 0.613 . . . . . . . . . . . . . . . . . . . . het 4474.90 246 1 144930940 . T C 4474.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.669;DP=246;DS;Dels=0.00;FS=0.473;HRun=1;HaplotypeScore=4.8546;MQ=59.30;MQ0=0;MQRankSum=0.453;QD=18.19;ReadPosRankSum=-0.215;VQSLOD=4.3651;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,142:246:99:3863,0,2740 1 144931087 144931087 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.A622G:p.T208A,PDE4DIP:NM_001350520:exon1:c.A622G:p.T208A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c 0.313 0.327 1.000 0.747 0.733 0.969 0 4.95 0.648 2.515 0.449 0.143 0.228 1.000 0.715 0.989 0.536 12.559 0.554 . . . . . . . . . . . . . . . . . . . . het 994.35 153 1 144931087 . T C 994.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.561;DP=153;Dels=0.00;FS=4.566;HRun=0;HaplotypeScore=4.9073;MQ=59.26;MQ0=0;MQRankSum=-0.278;QD=6.50;ReadPosRankSum=-0.319;VQSLOD=3.0228;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,43:153:99:1024,0,3180 1 144931330 144931330 C T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.G379A:p.A127T,PDE4DIP:NM_001350520:exon1:c.G379A:p.A127T . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.51 rs2762745 COSM4591353 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3112.15 250 1 144931330 . C T 3112.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.408;DP=250;DS;Dels=0.00;FS=2.938;HRun=0;HaplotypeScore=6.2612;MQ=59.49;MQ0=0;MQRankSum=1.306;QD=12.45;ReadPosRankSum=1.077;VQSLOD=3.9739;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3142,0,3881 1 144931392 144931392 G A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.C317T:p.A106V,PDE4DIP:NM_001350520:exon1:c.C317T:p.A106V . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.708 -0.600 1.000 0.747 0.442 0.072 0 4.35 0.513 1.124 0.307 -0.024 0.128 0.003 0.159 0.767 0.326 12.594 0.556 . . . . . . . . . . . . . . . . . . . . het 3025.05 249 1 144931392 . G A 3025.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.574;DP=249;DS;Dels=0.00;FS=0.983;HRun=0;HaplotypeScore=0.9996;MQ=59.59;MQ0=0;MQRankSum=0.745;QD=12.15;ReadPosRankSum=0.133;VQSLOD=6.1051;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:136,112:249:99:3055,0,3697 1 144994658 144994658 C A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002810:exon1:c.G74T:p.R25L,PDE4DIP:NM_001002812:exon1:c.G74T:p.R25L,PDE4DIP:NM_001198834:exon1:c.G74T:p.R25L,PDE4DIP:NM_014644:exon1:c.G74T:p.R25L,PDE4DIP:NM_001195261:exon2:c.G83T:p.R28L,PDE4DIP:NM_001198832:exon4:c.G272T:p.R91L,PDE4DIP:NM_001350521:exon4:c.G485T:p.R162L,PDE4DIP:NM_001350522:exon4:c.G272T:p.R91L,PDE4DIP:NM_001350523:exon4:c.G272T:p.R91L,PDE4DIP:NM_022359:exon4:c.G485T:p.R162L . . . . . . 0.4998 0.4985 0.5 0.5 0.5 0.5 0.5 0.4996 . . . 0.5 0.48 rs1664022 COSM4591537;COSM4591540;COSM4591539;COSM4591541;COSM4591538 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4998 0.4980 0.4999 0.4999 0.5 0.5 0.5000 0.5 0.4996 0.4105 0.4906 0.4868 0.2020 0.4981 0.4997 0.3324 0.4601 het 2721.64 212 1 144994658 . C A 2721.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.949;DP=212;DS;Dels=0.00;FS=2.437;HRun=0;HaplotypeScore=3.0908;MQ=59.47;MQ0=0;MQRankSum=0.861;QD=12.84;ReadPosRankSum=0.938;VQSLOD=5.6185;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:111,101:212:99:2752,0,2875 1 145075683 145075683 C T exonic PDE4DIP stopgain PDE4DIP:NM_001350521:exon1:c.G180A:p.W60X,PDE4DIP:NM_022359:exon1:c.G180A:p.W60X . . . . . . 0.4999 0.4992 0.4999 0.5 0.5 0.4999 0.5 0.4999 . . . 0.46 0.42 rs2762779 COSM423677 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);17(upper_aerodigestive_tract);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4998 0.4995 0.5 0.4999 0.5 0.4998 0.4997 0.4998 0.5000 0.5000 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 het 903.12 117 1 145075683 . C T 903.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.304;DP=117;Dels=0.00;FS=6.431;HRun=0;HaplotypeScore=2.8905;MQ=59.01;MQ0=0;MQRankSum=0.287;QD=7.72;ReadPosRankSum=-0.571;VQSLOD=3.6847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,40:117:99:933,0,2000 1 145075854 145075854 G C exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350521:exon1:c.C9G:p.G3G,PDE4DIP:NM_022359:exon1:c.C9G:p.G3G . . . . . . 0.5000 0.4996 0.5 0.5 0.5 0.5000 0.5 0.5 . . . 0.49 0.45 rs1663853 COSM3723000 1(breast);1(thyroid);2(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.4999 0.5000 0.5 0.5 0.4999 0.5000 0.5 0.5 0.5000 0.5001 0.5 0.5 0.5 0.5 0.5 0.5 het 649.83 65 1 145075854 . G C 649.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.303;DP=65;Dels=0.00;FS=1.231;HRun=3;HaplotypeScore=4.6762;MQ=58.41;MQ0=0;MQRankSum=1.072;QD=10.00;ReadPosRankSum=0.101;VQSLOD=4.7370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,25:65:99:680,0,1084 1 145103947 145103947 T C exonic SEC22B unknown UNKNOWN . . . . . . 0.4981 0.4993 0.4975 0.4967 0.4974 0.4982 0.4977 0.4987 . . . 0.5 . rs2794062 COSN2558063 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4986 0.4988 0.4977 0.4985 0.4987 0.4992 0.4987 0.4972 0.4988 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 473.16 55 1 145103947 . T C 473.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.571;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.90;MQ0=0;MQRankSum=-1.698;QD=8.60;ReadPosRankSum=-0.282;VQSLOD=4.9495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,23:55:99:503,0,812 1 145109583 145109583 C A exonic SEC22B unknown UNKNOWN . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 . rs2794053 COSN15633403;COSN15628855;COSN15639380;COSN15636823;COSN15635947;COSN15641837;COSN15641051;COSN15646816;COSN15635130;COSN15631382;COSN15628028;COSN15645118;COSN15644312;COSN15643461;COSN15638516;COSN15634296;COSN15640210;COSN15642641;COSN15637678;COSN15629698;COSN15630547;COSN15645979;COSN15632308 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4103.11 249 1 145109583 . C A 4103.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.881;DP=249;DS;Dels=0.00;FS=2.420;HRun=1;HaplotypeScore=10.3636;MQ=59.17;MQ0=0;MQRankSum=0.748;QD=16.48;ReadPosRankSum=-1.743;VQSLOD=2.6885;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,119:249:99:3389,0,3646 1 145109661 145109661 G A exonic SEC22B unknown UNKNOWN . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.965 0.272 1.000 0.747 0.383 0.051 0 5.55 0.832 7.573 0.816 0.707 0.301 1.000 0.715 0.993 0.574 17.055 0.863 Longin domain|Longin-like domain . . . . . . . . . . . . . . . . . . . het 1083.78 249 1 145109661 . G A 1083.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.587;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3452;MQ=59.25;MQ0=0;MQRankSum=0.619;QD=4.35;ReadPosRankSum=-0.363;VQSLOD=3.6835;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:196,53:249:99:1114,0,5654 1 145112485 145112485 C T exonic SEC22B unknown UNKNOWN . . . . . . 0.4995 0.4995 0.4994 0.4979 0.4994 0.4996 0.4978 0.4998 0.42 0.4 0.43 0.12 . rs2794039 COSN19733235;COSN19613927;COSN20345188 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4994 0.4991 0.4993 0.4996 0.4994 0.4996 0.4994 0.4986 0.4998 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 909.85 225 1 145112485 . C T 909.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.555;DP=225;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9273;MQ=58.75;MQ0=0;MQRankSum=1.886;QD=4.04;ReadPosRankSum=0.337;VQSLOD=3.1768;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:174,51:225:99:940,0,4490 1 145532549 145532549 T C exonic ITGA10 synonymous SNV ITGA10:NM_001303041:exon5:c.T573C:p.F191F,ITGA10:NM_001303040:exon6:c.T609C:p.F203F,ITGA10:NM_003637:exon9:c.T1002C:p.F334F . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.254 0.054 0.630 0.219 0.563 0.310 0 2.37 0.282 1.952 0.397 1.048 0.713 1.000 0.715 1.000 0.888 8.375 0.314 von Willebrand factor\x2c type A . . . . . . . . . . . . . . . . . . . hom 6602.80 200 1 145532549 . T C 6602.80 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0550;MQ=59.15;MQ0=0;QD=33.01;VQSLOD=7.3951;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6602,515,0 1 145561116 145561116 G A exonic ANKRD35 synonymous SNV ANKRD35:NM_001280799:exon8:c.G534A:p.Q178Q,ANKRD35:NM_144698:exon10:c.G804A:p.Q268Q . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 0.684 -0.049 0.127 0.170 0.497 0.185 0 0.767 0.176 -0.222 0.091 -0.410 0.061 0.021 0.196 0.006 0.095 5.348 0.152 . . . . . . . . . . . . . . . . . . . . het 665.53 52 1 145561116 . G A 665.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.319;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4658;MQ=58.66;MQ0=0;MQRankSum=1.685;QD=12.80;ReadPosRankSum=-0.751;VQSLOD=5.7190;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:696,0,714 1 145561594 145561594 C T exonic ANKRD35 nonsynonymous SNV ANKRD35:NM_001280799:exon8:c.C1012T:p.P338S,ANKRD35:NM_144698:exon10:c.C1282T:p.P428S 0.56 0.58 0.5 0.73 0.38 0.61 0.4587 0.5388 0.5499 0.7298 0.3856 0.3780 0.5133 0.5553 0.42 0.53 0.37 0.53 0.34 rs6670984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4597 0.5352 0.5394 0.4971 0.7269 0.3961 0.3669 0.4693 0.5543 0.4344 0.5269 0.5060 0.5033 0.7270 0.3970 0.3513 0.4508 het 1461.40 84 1 145561594 . C T 1461.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.522;DP=84;Dels=0.00;FS=12.286;HRun=0;HaplotypeScore=0.9992;MQ=57.92;MQ0=0;MQRankSum=2.373;QD=17.40;ReadPosRankSum=-0.881;VQSLOD=2.5615;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,53:84:99:1491,0,741 1 145583938 145583938 C G exonic PIAS3 nonsynonymous SNV PIAS3:NM_006099:exon10:c.C1169G:p.S390C 0.0066 . 0.0086 . 0.023 0.0041 0.0137 0.0028 0.0083 0 0.0156 0.0199 0.0176 0.0058 0.018 0.0036 0.025 . 0.025 rs17354559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0145 0.0027 0.0108 0.0185 0 0.0166 0.0210 0.0155 0.0057 0.0159 0.0061 0.0179 0.0199 0 0.0180 0.0228 0.0133 het 4266.77 248 1 145583938 . C G 4266.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.582;DP=248;DS;Dels=0.00;FS=0.464;HRun=0;HaplotypeScore=1.8646;MQ=59.08;MQ0=0;MQRankSum=-0.181;QD=17.20;ReadPosRankSum=0.136;VQSLOD=5.4036;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:120,128:248:99:3631,0,3307 1 146672906 146672906 C T exonic FMO5 synonymous SNV FMO5:NM_001144829:exon7:c.G1011A:p.P337P,FMO5:NM_001461:exon7:c.G1011A:p.P337P 0.9 0.83 0.95 0.99 0.91 0.85 0.9209 0.8470 0.9562 0.9832 0.9527 0.9280 0.9196 0.8686 0.9 0.85 0.92 0.86 0.94 rs894469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9231 0.8465 0.9523 0.8944 0.9819 0.9508 0.9274 0.9297 0.8689 0.9156 0.8483 0.9403 0.9073 0.9772 0.9559 0.9362 0.9358 hom 3149.06 106 1 146672906 . C T 3149.06 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2429;MQ=60.00;MQ0=0;QD=29.71;VQSLOD=8.5746;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3182,250,0 1 146740502 146740502 C G exonic CHD1L nonsynonymous SNV CHD1L:NM_001256338:exon4:c.C438G:p.H146Q,CHD1L:NM_001256337:exon5:c.C207G:p.H69Q,CHD1L:NM_001348454:exon5:c.C594G:p.H198Q,CHD1L:NM_001348456:exon5:c.C207G:p.H69Q,CHD1L:NM_001348463:exon6:c.C207G:p.H69Q,CHD1L:NM_001348466:exon6:c.C207G:p.H69Q,CHD1L:NM_001348459:exon8:c.C207G:p.H69Q,CHD1L:NM_001348461:exon8:c.C207G:p.H69Q,CHD1L:NM_001348464:exon8:c.C207G:p.H69Q,CHD1L:NM_001256336:exon9:c.C750G:p.H250Q,CHD1L:NM_001348453:exon9:c.C711G:p.H237Q,CHD1L:NM_001348455:exon9:c.C561G:p.H187Q,CHD1L:NM_001348457:exon9:c.C207G:p.H69Q,CHD1L:NM_001348458:exon9:c.C207G:p.H69Q,CHD1L:NM_001348460:exon9:c.C207G:p.H69Q,CHD1L:NM_001348465:exon9:c.C207G:p.H69Q,CHD1L:NM_001348452:exon10:c.C834G:p.H278Q,CHD1L:NM_001348462:exon10:c.C207G:p.H69Q,CHD1L:NM_004284:exon10:c.C1050G:p.H350Q,CHD1L:NM_024568:exon10:c.C711G:p.H237Q,CHD1L:NM_001348451:exon11:c.C834G:p.H278Q 0.15 0.0076 0.19 0.11 0.23 0.25 0.2076 0.0373 0.1826 0.0920 0.2395 0.2390 0.2080 0.2532 0.17 0.047 0.23 0.098 0.24 rs17356233 . . . . . . . . . . . . . 0.289 0.150 T 0.396 0.329 B 0.249 0.373 B 0.019 0.273 N 0.999 0.588 P -0.505 0.026 N -0.14 0.650 T -1.51 0.387 N 0.088 0.256 -1.037 0.183 T 0.032 0.137 T . . . 1.424 0.234 12.91 0.944 0.241 0.561 0.298 D c -0.778 -0.685 0.714 0.228 0.707 0.730 0 -0.764 0.104 0.223 0.174 0.004 0.136 0.311 0.252 0.864 0.361 8.959 0.348 Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase|SNF2-related\x2c N-terminal domain;P-loop containing nucleoside triphosphate hydrolase ENSG00000131781.8|ENSG00000131778.13|ENSG00000131778.13|ENSG00000131778.13|ENSG00000131781.8|ENSG00000131778.13|ENSG00000131778.13|ENSG00000131791.6|ENSG00000131778.13|ENSG00000131791.6|ENSG00000131781.8|ENSG00000131778.13|ENSG00000227242.2|ENSG00000271721.1|ENSG00000131781.8|ENSG00000131778.13|ENSG00000131778.13 Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.2096 0.0365 0.1932 0.1848 0.0883 0.2433 0.2398 0.2242 0.2531 0.1796 0.0384 0.2057 0.1755 0.1012 0.2350 0.2514 0.2510 het 509.91 41 1 146740502 . C G 509.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.630;DP=41;Dels=0.00;FS=1.204;HRun=0;HaplotypeScore=1.6828;MQ=56.54;MQ0=0;MQRankSum=-0.952;QD=12.44;ReadPosRankSum=-1.813;VQSLOD=2.9116;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:540,0,528 1 146751782 146751782 A C exonic CHD1L synonymous SNV CHD1L:NM_001256338:exon9:c.A1011C:p.I337I,CHD1L:NM_001256337:exon10:c.A780C:p.I260I,CHD1L:NM_001348454:exon10:c.A1167C:p.I389I,CHD1L:NM_001348456:exon10:c.A780C:p.I260I,CHD1L:NM_001348463:exon11:c.A780C:p.I260I,CHD1L:NM_001348466:exon11:c.A780C:p.I260I,CHD1L:NM_001348459:exon13:c.A780C:p.I260I,CHD1L:NM_001348461:exon13:c.A780C:p.I260I,CHD1L:NM_001348464:exon13:c.A780C:p.I260I,CHD1L:NM_001256336:exon14:c.A1323C:p.I441I,CHD1L:NM_001348453:exon14:c.A1284C:p.I428I,CHD1L:NM_001348455:exon14:c.A1134C:p.I378I,CHD1L:NM_001348457:exon14:c.A780C:p.I260I,CHD1L:NM_001348458:exon14:c.A780C:p.I260I,CHD1L:NM_001348460:exon14:c.A780C:p.I260I,CHD1L:NM_001348465:exon14:c.A780C:p.I260I,CHD1L:NM_001348452:exon15:c.A1407C:p.I469I,CHD1L:NM_001348462:exon15:c.A780C:p.I260I,CHD1L:NM_004284:exon15:c.A1623C:p.I541I,CHD1L:NM_024568:exon15:c.A1284C:p.I428I,CHD1L:NM_001348451:exon16:c.A1407C:p.I469I 0.97 0.94 0.99 0.99 0.96 0.97 0.9658 0.9422 0.9863 0.9844 0.9568 0.9640 0.9570 0.9678 0.95 0.94 0.96 0.95 0.98 rs7547279 COSM5446904 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9662 0.9420 0.9845 0.9523 0.9828 0.9566 0.9640 0.9669 0.9681 0.9597 0.9420 0.9761 0.9536 0.9790 0.9605 0.9666 0.9654 hom 2483.07 81 1 146751782 . A C 2483.07 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=30.66;VQSLOD=9.0785;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2516,196,0 1 146767149 146767149 G T exonic CHD1L nonsynonymous SNV CHD1L:NM_001256338:exon17:c.G2041T:p.A681S,CHD1L:NM_001256337:exon18:c.G1810T:p.A604S,CHD1L:NM_001348454:exon18:c.G2197T:p.A733S,CHD1L:NM_001348456:exon18:c.G1810T:p.A604S,CHD1L:NM_001348463:exon19:c.G1810T:p.A604S,CHD1L:NM_001348466:exon19:c.G1810T:p.A604S,CHD1L:NM_001348459:exon21:c.G1810T:p.A604S,CHD1L:NM_001348461:exon21:c.G1810T:p.A604S,CHD1L:NM_001348464:exon21:c.G1810T:p.A604S,CHD1L:NM_001256336:exon22:c.G2353T:p.A785S,CHD1L:NM_001348453:exon22:c.G2314T:p.A772S,CHD1L:NM_001348455:exon22:c.G2164T:p.A722S,CHD1L:NM_001348457:exon22:c.G1810T:p.A604S,CHD1L:NM_001348458:exon22:c.G1810T:p.A604S,CHD1L:NM_001348460:exon22:c.G1810T:p.A604S,CHD1L:NM_001348465:exon22:c.G1810T:p.A604S,CHD1L:NM_001348452:exon23:c.G2437T:p.A813S,CHD1L:NM_001348462:exon23:c.G1810T:p.A604S,CHD1L:NM_004284:exon23:c.G2653T:p.A885S,CHD1L:NM_024568:exon23:c.G2314T:p.A772S,CHD1L:NM_001348451:exon24:c.G2437T:p.A813S 0.97 0.94 0.99 0.99 0.96 0.97 0.9666 0.9426 0.9863 0.9843 0.9594 0.9651 0.9592 0.9681 0.95 0.94 0.96 0.95 0.98 rs4950394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9671 0.9427 0.9846 0.9524 0.9828 0.9589 0.9653 0.9672 0.9687 0.9605 0.9425 0.9760 0.9536 0.9784 0.9619 0.9677 0.9663 hom 2850.02 99 1 146767149 . G T 2850.02 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=28.79;VQSLOD=8.0769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2883,229,0 1 147091972 147091972 C T exonic BCL9 nonsynonymous SNV BCL9:NM_004326:exon8:c.C2011T:p.P671S 0.18 0.023 0.21 0.098 0.41 0.23 0.3143 0.0726 0.1612 0.0864 0.4724 0.4154 0.3205 0.2204 0.3 0.089 0.4 0.15 0.39 rs3820129 . . . . . . . . . . . . . 0.02 0.496 D 0.079 0.230 B 0.037 0.218 B 0.000 0.843 N 0.000 0.588 P 1.555 0.395 L 0.53 0.551 T -1.87 0.437 N 0.066 0.052 -1.031 0.201 T 0.065 0.268 T . . . 3.160 0.439 22.6 0.998 0.923 0.988 0.866 D c -0.070 0.076 1.000 0.747 0.707 0.730 0 3.92 0.444 5.999 0.701 0.892 0.403 1.000 0.715 1.000 0.888 13.156 0.588 . ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.3143 0.0645 0.1736 0.3412 0.0848 0.4616 0.4187 0.3293 0.2244 0.3084 0.0747 0.2231 0.3411 0.0812 0.4587 0.4336 0.3814 het 923.96 80 1 147091972 . C T 923.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.180;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5983;MQ=59.46;MQ0=0;MQRankSum=2.445;QD=11.55;ReadPosRankSum=1.502;VQSLOD=5.4120;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,39:80:99:954,0,1115 1 147119273 147119273 G A exonic ACP6 synonymous SNV ACP6:NM_016361:exon10:c.C1239T:p.H413H 0.48 0.43 0.63 0.42 0.58 0.4 0.5342 0.4534 0.6485 0.3729 0.5860 0.5752 0.5198 0.4039 0.53 0.46 0.57 0.51 0.54 rs1344 COSM4415726 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5414 0.4555 0.6416 0.5814 0.3649 0.5792 0.5754 0.5553 0.4081 0.5355 0.4559 0.6205 0.5563 0.3507 0.5750 0.5882 0.5224 het 2474.97 214 1 147119273 . G A 2474.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.312;DP=214;Dels=0.00;FS=2.444;HRun=0;HaplotypeScore=3.7729;MQ=59.23;MQ0=0;MQRankSum=1.157;QD=11.57;ReadPosRankSum=-0.879;VQSLOD=6.0120;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,101:214:99:2505,0,2809 1 147121977 147121977 C T exonic ACP6 nonsynonymous SNV ACP6:NM_001323625:exon8:c.G946A:p.V316M,ACP6:NM_016361:exon8:c.G946A:p.V316M 0.98 0.94 1. 1. 1. 1. 0.9958 0.9538 0.9987 1 1 0.9999 0.9978 1 0.99 0.96 1. 0.99 1. rs6593795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9968 0.9531 0.9986 1 1 1 0.9999 0.9985 0.9999 0.9867 0.9542 0.9964 1 1 1 0.9998 0.9949 hom 4104.88 137 1 147121977 . C T 4104.88 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.70;MQ0=0;QD=29.96;VQSLOD=9.2062;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4104,319,0 1 147124310 147124310 T G exonic ACP6 synonymous SNV ACP6:NM_001323625:exon7:c.A823C:p.R275R,ACP6:NM_016361:exon7:c.A823C:p.R275R . . . . . . 0.7107 0.7639 0.8290 0.7137 0.7340 0.7119 0.6894 0.5795 0.73 0.76 0.71 0.77 0.7 rs2153463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7135 0.7601 0.8231 0.6668 0.7069 0.7342 0.7108 0.7130 0.5841 0.7312 0.7639 0.7590 0.6788 0.7019 0.7259 0.7184 0.6969 hom 2871.10 93 1 147124310 . T G 2871.10 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.75;MQ0=0;QD=30.87;VQSLOD=8.9045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2904,244,0 1 149906413 149906413 T C exonic MTMR11 nonsynonymous SNV MTMR11:NM_181873:exon5:c.A259G:p.M87V,MTMR11:NM_001145862:exon6:c.A475G:p.M159V 0.23 0.015 0.26 0.28 0.37 0.29 0.3353 0.0734 0.2340 0.3203 0.3196 0.3997 0.3675 0.3232 0.3 0.087 0.4 0.22 0.38 rs11205303 COSM146598;COSM3927611 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(prostate);1(thyroid);1(large_intestine);1(biliary_tract) . . . . . Height 1.25 . 23563607 rs11205303 4E-23 0.193 0.220 T 0.0 0.257 B 0.001 0.267 B 0.019 0.272 N 0.927 0.271 P 1.725 0.447 L -1.56 0.818 D -1.13 0.291 N 0.066 0.052 -0.951 0.408 T 0.227 0.592 T . . . 0.057 0.099 3.155 0.904 0.191 0.583 0.304 D c -0.474 -0.329 1.000 0.437 0.651 0.465 0 2.65 0.305 0.555 0.230 0.144 0.231 1.000 0.715 0.998 0.697 7.499 0.265 PH domain-like ENSG00000272993.1|ENSG00000261716.1|ENSG00000183558.5 Artery_Tibial|Artery_Tibial|Artery_Tibial 0.3331 0.0685 0.2379 0.2852 0.3305 0.3081 0.4076 0.3544 0.3300 0.2885 0.0799 0.2679 0.3179 0.3677 0.3170 0.3900 0.3684 het 1206.33 122 1 149906413 . T C 1206.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.598;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7295;MQ=59.24;MQ0=0;MQRankSum=-0.108;QD=9.89;ReadPosRankSum=-1.492;VQSLOD=6.1346;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,51:122:99:1236,0,1923 1 150199123 150199123 G T exonic ANP32E nonsynonymous SNV ANP32E:NM_001280560:exon4:c.C332A:p.A111E 0.6 0.92 0.47 0.55 0.43 0.5 0.4619 0.8455 0.4464 0.4921 0.3963 0.4110 0.4306 0.4470 0.55 0.82 0.42 0.54 0.35 rs7522034 COSM1179736 3(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P . . . 8.07 0.003 T 1.92 0.004 N . . -1.083 0.067 T 0.000 0.000 T . . . 0.443 0.137 6.978 0.225 0.009 0.205 0.209 N c -0.940 -0.912 0.205 0.182 0.707 0.730 0 -3.24 0.048 0.091 0.148 -0.209 0.100 0.996 0.391 0.997 0.653 1.400 0.021 Leucine-rich repeat domain\x2c L domain-like ENSG00000143374.10 Muscle_Skeletal 0.4469 0.8531 0.4272 0.3425 0.4884 0.4088 0.4103 0.4226 0.4317 0.5430 0.8411 0.4642 0.33 0.4888 0.3853 0.4250 0.4722 het 725.78 63 1 150199123 . G T 725.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.069;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.20;MQ0=0;MQRankSum=-0.752;QD=11.52;ReadPosRankSum=-0.765;VQSLOD=6.5156;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,29:63:99:756,0,844 1 150526044 150526044 G C exonic ADAMTSL4 nonsynonymous SNV ADAMTSL4:NM_001288607:exon6:c.G577C:p.A193P,ADAMTSL4:NM_001288608:exon6:c.G577C:p.A193P,ADAMTSL4:NM_019032:exon6:c.G577C:p.A193P,ADAMTSL4:NM_025008:exon6:c.G577C:p.A193P 0.53 0.61 0.43 0.57 0.53 0.44 0.5231 0.5974 0.5111 0.5486 0.6540 0.5257 0.5088 0.4090 0.55 0.59 0.53 0.52 0.4 rs41317515 COSM4142595;COSM4142597;COSM4142596 2(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Ectopia_lentis RCV000252416.1|RCV000290467.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0013581:ORPHA1885:74969002 . . . . . . 0.703 0.076 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 0.23 0.631 T 1.43 0.011 N 0.012 0.003 -1.058 0.123 T 0.031 0.132 T . . . -1.198 0.025 0.007 0.673 0.081 0.006 0.026 N c -1.688 -1.744 1.000 0.747 0.660 0.495 0 -4.57 0.032 -1.171 0.032 -1.198 0.016 0.000 0.063 0.007 0.100 3.170 0.061 . ENSG00000143452.11|ENSG00000259357.1|ENSG00000163131.6|ENSG00000259357.1|ENSG00000259357.1|ENSG00000143452.11|ENSG00000259357.1|ENSG00000163131.6|ENSG00000143452.11|ENSG00000143369.10|ENSG00000259357.1|ENSG00000163131.6|ENSG00000259357.1|ENSG00000143452.11|ENSG00000237781.2|ENSG00000143382.9|ENSG00000259357.1|ENSG00000163131.6|ENSG00000143457.6|ENSG00000259357.1|ENSG00000259357.1|ENSG00000259357.1|ENSG00000259357.1|ENSG00000259357.1|ENSG00000163131.6|ENSG00000143452.11|ENSG00000259357.1|ENSG00000143457.6|ENSG00000259357.1|ENSG00000143452.11|ENSG00000259357.1|ENSG00000143457.6|ENSG00000143452.11|ENSG00000259357.1|ENSG00000143457.6|ENSG00000259357.1|ENSG00000143452.11|ENSG00000259357.1|ENSG00000259357.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Whole_Blood 0.5217 0.5967 0.5041 0.4282 0.5461 0.6497 0.5267 0.5237 0.4083 0.5506 0.5922 0.5048 0.41 0.5344 0.6406 0.5133 0.5390 het 2260.67 158 1 150526044 . G C 2260.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.315;DP=158;Dels=0.00;FS=2.045;HRun=1;HaplotypeScore=1.9325;MQ=59.38;MQ0=0;MQRankSum=0.886;QD=14.31;ReadPosRankSum=0.381;VQSLOD=6.4420;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,82:158:99:2291,0,1969 1 150531008 150531008 T C exonic ADAMTSL4 synonymous SNV ADAMTSL4:NM_019032:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_025008:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_001288607:exon16:c.T2325C:p.N775N,ADAMTSL4:NM_001288608:exon16:c.T2511C:p.N837N 0.81 0.65 0.9 0.84 0.93 0.83 0.9067 0.6932 0.9114 0.8448 0.9779 0.9479 0.9283 0.8743 0.87 0.7 0.95 0.77 0.95 rs10888382 COSM4142602;COSM4142600;COSM4142601 1(thyroid) Benign|Benign not_specified|Ectopia_lentis RCV000252118.1|RCV000377315.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0013581:ORPHA1885:74969002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9122 0.6897 0.9081 0.9223 0.8471 0.9796 0.9487 0.9229 0.8775 0.8775 0.7013 0.9069 0.9172 0.8525 0.9800 0.9532 0.9254 het 714.37 79 1 150531008 . T C 714.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.364;DP=79;Dels=0.00;FS=0.875;HRun=0;HaplotypeScore=3.1930;MQ=58.53;MQ0=0;MQRankSum=1.601;QD=9.04;ReadPosRankSum=0.457;VQSLOD=5.8276;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,31:79:99:744,0,1290 1 150531050 150531050 G A exonic ADAMTSL4 synonymous SNV ADAMTSL4:NM_019032:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_025008:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_001288607:exon16:c.G2367A:p.P789P,ADAMTSL4:NM_001288608:exon16:c.G2553A:p.P851P 0.88 0.83 0.84 0.98 0.84 0.9 0.8676 0.8374 0.8824 0.9745 0.8780 0.8452 0.8786 0.9056 0.84 0.84 0.85 0.85 0.79 rs10749657 COSM5827499;COSM3750346;COSM423780 1(large_intestine) Benign|Benign not_specified|Ectopia_lentis RCV000244123.1|RCV000264056.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0013581:ORPHA1885:74969002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8705 0.8398 0.8863 0.8168 0.9774 0.8807 0.8483 0.8514 0.9025 0.8591 0.8438 0.8520 0.8113 0.9852 0.8723 0.8533 0.8476 het 1219.96 78 1 150531050 . G A 1219.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.893;DP=78;Dels=0.00;FS=0.909;HRun=0;HaplotypeScore=1.5317;MQ=59.11;MQ0=0;MQRankSum=0.693;QD=15.64;ReadPosRankSum=-0.546;VQSLOD=5.7532;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,51:78:99:1250,0,643 1 150531170 150531170 C T exonic ADAMTSL4 synonymous SNV ADAMTSL4:NM_025008:exon15:c.C2604T:p.H868H 0.92 0.71 0.98 1. 1. 1. 0.9768 0.7455 0.9892 1 1 0.9994 0.9867 0.9996 0.92 0.75 1. 0.88 0.95 rs10749658 COSM4142603 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9814 0.7395 0.9866 0.9999 1 1 0.9993 0.9894 0.9995 0.9275 0.7477 0.9833 1 0.9994 1 0.9991 0.9827 hom 910.56 31 1 150531170 . C T 910.56 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.25;MQ0=0;QD=29.37;VQSLOD=7.8718;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:78.20:944,78,0 1 150771703 150771703 T C exonic CTSK synonymous SNV CTSK:NM_000396:exon7:c.A831G:p.A277A 0.96 0.9 0.99 0.99 1. 0.97 0.9887 0.9257 0.9940 0.9946 1 0.9986 0.9890 0.9771 0.98 0.94 1. 0.95 1. rs10788796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9900 0.9230 0.9932 0.9931 0.9935 1 0.9988 0.9918 0.9776 0.9788 0.9308 0.9905 1 0.9883 1 0.9989 0.9898 hom 5063.25 176 1 150771703 . T C 5063.25 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8805;MQ=59.18;MQ0=0;QD=28.77;VQSLOD=7.5486;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5062,397,0 1 150970577 150970577 G T exonic MINDY1 nonsynonymous SNV MINDY1:NM_001040217:exon8:c.C728A:p.T243K,MINDY1:NM_001163259:exon8:c.C869A:p.T290K,MINDY1:NM_001163260:exon8:c.C728A:p.T243K,MINDY1:NM_001163258:exon9:c.C1298A:p.T433K,MINDY1:NM_001319998:exon9:c.C1154A:p.T385K,MINDY1:NM_018379:exon9:c.C1154A:p.T385K 0.94 0.79 0.99 1. 1. 1. 0.9830 0.8149 0.9918 1 1 0.9995 0.9912 0.9997 0.94 0.83 1. 0.94 1. rs2925741 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.067 0.218 N 1 0.090 P -0.695 0.019 N 0.94 0.453 T -0.25 0.110 N 0.008 0.332 -1.008 0.275 T 0.018 0.076 T . . . 1.710 0.267 14.47 0.777 0.116 0.004 0.019 N c -0.985 -0.841 1.000 0.747 0.707 0.730 0 3.1 0.346 2.484 0.447 0.152 0.238 0.854 0.303 0.981 0.494 9.653 0.389 . . . 0.9866 0.8150 0.9905 0.9998 1 1 0.9994 0.9914 0.9996 0.9494 0.8235 0.9893 1 1 1 0.9992 0.9929 hom 6138.88 177 1 150970577 . G T 6138.88 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8633;MQ=59.54;MQ0=0;QD=34.68;VQSLOD=9.5402;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:6138,472,0 1 150999737 150999737 A G exonic PRUNE1 synonymous SNV PRUNE1:NM_001303243:exon4:c.A105G:p.K35K,PRUNE1:NM_001303229:exon5:c.A162G:p.K54K,PRUNE1:NM_001303242:exon6:c.A708G:p.K236K,PRUNE1:NM_021222:exon6:c.A708G:p.K236K 0.28 0.25 0.2 0.46 0.21 0.25 0.2530 0.2480 0.2094 0.5021 0.2196 0.2311 0.2356 0.2589 0.24 0.26 0.23 0.3 0.23 rs11204762 COSM5618993 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2502 0.2508 0.2064 0.1878 0.5092 0.2257 0.2326 0.2213 0.2590 0.2508 0.2489 0.1862 0.1722 0.5204 0.2252 0.2341 0.2495 het 922.92 102 1 150999737 . A G 922.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.998;DP=102;Dels=0.00;FS=6.646;HRun=1;HaplotypeScore=1.8533;MQ=59.35;MQ0=0;MQRankSum=-0.167;QD=9.05;ReadPosRankSum=-0.299;VQSLOD=4.9297;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,37:102:99:953,0,1754 1 151006539 151006539 C A exonic PRUNE1 synonymous SNV PRUNE1:NM_001303243:exon6:c.C588A:p.G196G,PRUNE1:NM_001303229:exon7:c.C645A:p.G215G,PRUNE1:NM_001303242:exon7:c.C1032A:p.G344G,PRUNE1:NM_021222:exon8:c.C1191A:p.G397G 0.51 0.44 0.52 0.6 0.5 0.52 0.8457 0.8195 0.8703 0.8703 0.8266 0.8560 0.8337 0.7989 0.85 0.82 0.87 0.73 0.79 rs3738476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8485 0.8179 0.8691 0.8464 0.8739 0.8284 0.8606 0.8387 0.8000 0.8398 0.8138 0.8842 0.8808 0.8716 0.8281 0.8520 0.8248 hom 4703.86 155 1 151006539 . C A 4703.86 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=58.66;MQ0=0;QD=30.35;VQSLOD=9.0137;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4703,391,0 1 151011325 151011325 C T exonic BNIPL nonsynonymous SNV BNIPL:NM_001159642:exon4:c.C10T:p.R4C,BNIPL:NM_138278:exon4:c.C256T:p.R86C 0.047 0.003 0.065 . 0.14 0.053 0.1010 0.0228 0.0436 0.0005 0.1119 0.1418 0.1130 0.0728 0.1 0.031 0.14 0.076 0.12 rs61751619 . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.95 0.671 D 0.023 0.265 N 0.014 0.458 P 2.6 0.763 M 1.1 0.574 T -4.03 0.743 D 0.331 0.422 -0.433 0.710 T 0.280 0.652 T . . . 7.347 0.949 34 0.999 0.996 0.912 0.528 D c 0.712 0.665 1.000 0.415 0.615 0.372 0 5.15 0.702 2.075 0.409 0.920 0.431 1.000 0.715 0.993 0.574 14.012 0.639 . . . 0.0997 0.0209 0.0500 0.1084 0.0003 0.1153 0.1451 0.0978 0.0711 0.0960 0.0289 0.0644 0.1291 0.0018 0.1151 0.1395 0.1334 het 1070.24 88 1 151011325 . C T 1070.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.210;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0285;MQ=58.51;MQ0=0;MQRankSum=-0.471;QD=12.16;ReadPosRankSum=-0.930;VQSLOD=4.6052;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,42:88:99:1100,0,1278 1 151105824 151105824 C G exonic SEMA6C synonymous SNV SEMA6C:NM_001178062:exon19:c.G1905C:p.P635P,SEMA6C:NM_030913:exon19:c.G1929C:p.P643P,SEMA6C:NM_001178061:exon20:c.G2025C:p.P675P 0.76 0.54 0.79 0.9 0.81 0.83 0.8219 0.6405 0.8530 0.9228 0.8032 0.8229 0.8278 0.8306 0.73 0.59 0.81 0.7 0.52 rs4971006 COSM3750353;COSM3750352 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8066 0.5819 0.8306 0.8331 0.9188 0.7848 0.8030 0.8008 0.8261 0.7422 0.5887 0.8282 0.83 0.9210 0.7879 0.7915 0.7894 hom 287.88 11 1 151105824 . C G 287.88 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=57.87;MQ0=0;QD=26.17;VQSLOD=6.7007;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.07:321,27,0 1 151108137 151108137 T G exonic SEMA6C nonsynonymous SNV SEMA6C:NM_001178062:exon13:c.A1243C:p.T415P,SEMA6C:NM_001178061:exon14:c.A1363C:p.T455P,SEMA6C:NM_030913:exon14:c.A1363C:p.T455P 0.82 0.76 0.81 0.9 0.82 0.84 0.8189 0.7720 0.8428 0.9196 0.7759 0.8098 0.8194 0.8327 0.8 0.78 0.81 0.85 0.88 rs4971007 . . . . . . . . . . . . . 0.536 0.069 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.990 0.242 P 0.87 0.215 L 2.84 0.107 T 0.71 0.022 N 0.098 0.100 -0.967 0.378 T 0.009 0.031 T . . . 2.148 0.319 17.17 0.876 0.168 0.189 0.202 N c -0.508 -0.333 1.000 0.747 0.778 0.996 0 4.64 0.572 0.500 0.221 0.073 0.181 0.940 0.324 0.945 0.419 10.287 0.426 Sema domain|WD40/YVTN repeat-like-containing domain ENSG00000143443.9|ENSG00000163155.7|ENSG00000197622.8|ENSG00000163141.14|ENSG00000197622.8|ENSG00000143443.9|ENSG00000143443.9|ENSG00000261168.1|ENSG00000163141.14 Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8197 0.7702 0.8403 0.8391 0.9188 0.7864 0.8063 0.8085 0.8349 0.7970 0.7722 0.8449 0.8344 0.9188 0.7887 0.7963 0.8057 hom 3227.04 100 1 151108137 . T G 3227.04 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;QD=32.27;VQSLOD=9.8010;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3260,253,0 1 151209063 151209063 C T exonic PIP5K1A synonymous SNV PIP5K1A:NM_001135636:exon8:c.C933T:p.Y311Y,PIP5K1A:NM_001135637:exon8:c.C930T:p.Y310Y,PIP5K1A:NM_001330689:exon8:c.C933T:p.Y311Y,PIP5K1A:NM_003557:exon8:c.C930T:p.Y310Y,PIP5K1A:NM_001135638:exon9:c.C969T:p.Y323Y 0.64 0.67 0.61 0.61 0.7 0.6 0.6618 0.6631 0.6352 0.6259 0.5970 0.6892 0.6788 0.6130 0.69 0.66 0.7 0.71 0.66 rs12407426 COSM4142615;COSM4142616 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6600 0.6647 0.6368 0.6473 0.6315 0.5980 0.6975 0.6576 0.6128 0.6708 0.6669 0.6360 0.6126 0.6464 0.5916 0.6982 0.6561 hom 1668.60 63 1 151209063 . C T 1668.60 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.98;MQ0=2;QD=26.49;VQSLOD=6.9009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1702,129,0 1 151239051 151239051 T C exonic PSMD4 synonymous SNV PSMD4:NM_001330692:exon9:c.T960C:p.S320S,PSMD4:NM_002810:exon9:c.T951C:p.S317S 0.64 0.64 0.62 0.61 0.7 0.6 0.6640 0.6383 0.6394 0.6288 0.6015 0.6949 0.6810 0.6152 0.68 0.64 0.7 0.71 0.67 rs7489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6607 0.6381 0.6371 0.6477 0.6314 0.5983 0.7021 0.6593 0.6133 0.6653 0.6412 0.6325 0.6126 0.6432 0.5912 0.7028 0.6507 hom 1519.81 59 1 151239051 . T C 1519.81 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4718;MQ=60.00;MQ0=0;QD=25.76;VQSLOD=5.8409;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1553,138,0 1 151288172 151288172 G A exonic PI4KB synonymous SNV PI4KB:NM_001198774:exon2:c.C786T:p.D262D,PI4KB:NM_002651:exon3:c.C822T:p.D274D,PI4KB:NM_001198773:exon4:c.C786T:p.D262D,PI4KB:NM_001330721:exon4:c.C786T:p.D262D 0.51 0.27 0.57 0.58 0.63 0.59 0.5932 0.3304 0.6124 0.5756 0.5389 0.6368 0.6258 0.5987 0.55 0.34 0.65 0.52 0.66 rs1056847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5978 0.3271 0.6072 0.6252 0.5774 0.5409 0.6440 0.6063 0.5968 0.5368 0.3366 0.5849 0.5894 0.5646 0.5330 0.6439 0.5918 hom 3495.34 102 1 151288172 . G A 3495.34 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5983;MQ=59.55;MQ0=0;QD=34.27;VQSLOD=9.9415;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3495,298,0 1 151288391 151288391 A G exonic PI4KB synonymous SNV PI4KB:NM_001198774:exon2:c.T567C:p.D189D,PI4KB:NM_002651:exon3:c.T603C:p.D201D,PI4KB:NM_001198773:exon4:c.T567C:p.D189D,PI4KB:NM_001330721:exon4:c.T567C:p.D189D 0.98 0.92 1. 1. 1. 1. 0.9934 0.9273 0.9970 1 1 0.9999 0.9967 0.9998 0.98 0.93 1. 0.99 1. rs1752379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9259 0.9963 1 0.9999 1 0.9999 0.9976 0.9997 0.9779 0.9229 0.9964 1 1 1 0.9997 0.9939 hom 5711.30 190 1 151288391 . A G 5711.30 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8937;MQ=60.00;MQ0=0;QD=30.06;VQSLOD=8.6742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5710,472,0 1 151315287 151315287 G C exonic RFX5 nonsynonymous SNV RFX5:NM_000449:exon11:c.C1226G:p.P409R,RFX5:NM_001025603:exon11:c.C1226G:p.P409R 0.064 0.003 0.099 . 0.17 0.075 0.1188 0.0269 0.0659 0.0005 0.1261 0.1618 0.1355 0.0980 0.12 0.035 0.16 0.11 0.09 rs2233854 COSM3750354 1(large_intestine) Likely benign|Benign SCID_due_to_absent_class_II_HLA_antigens|not_specified RCV000268166.1|RCV000454528.1 MedGen:OMIM:SNOMED_CT|MedGen C0242583:209920:71904008|CN169374 . . . . . . 0.001 0.784 D 0.435 0.391 B 0.12 0.306 B 0.126 0.188 N 0.984 0.248 P 1.845 0.488 L 1.32 0.352 T -1.3 0.408 N 0.22 0.373 -1.093 0.051 T 0.033 0.144 T . . . 1.879 0.287 15.46 0.985 0.413 0.588 0.305 D c -0.217 -0.216 0.998 0.359 0.707 0.730 0 3.26 0.363 1.782 0.381 0.108 0.203 0.839 0.300 0.011 0.114 8.749 0.336 RFX5\x2c C-terminal . . 0.1178 0.0250 0.0717 0.1159 0.0004 0.1252 0.1664 0.1171 0.0992 0.1128 0.0340 0.0754 0.1258 0.0018 0.1251 0.1673 0.1480 het 2653.67 242 1 151315287 . G C 2653.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.477;DP=242;DS;Dels=0.00;FS=0.520;HRun=0;HaplotypeScore=7.6247;MQ=59.26;MQ0=0;MQRankSum=-0.669;QD=10.97;ReadPosRankSum=-0.417;VQSLOD=4.1788;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,112:242:99:2684,0,3646 1 151316161 151316161 G A exonic RFX5 synonymous SNV RFX5:NM_000449:exon9:c.C753T:p.L251L,RFX5:NM_001025603:exon9:c.C753T:p.L251L 0.98 0.92 1. 1. 1. 1. 0.9934 0.9267 0.9970 1 1 0.9999 0.9967 0.9998 0.98 0.93 1. 0.99 0.93 rs1752386 . . Benign not_specified RCV000455174.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9253 0.9963 1 1 1 0.9999 0.9976 0.9998 0.9778 0.9227 0.9964 1 1 1 0.9997 0.9939 hom 2851.69 84 1 151316161 . G A 2851.69 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4947;MQ=59.03;MQ0=0;QD=33.95;VQSLOD=9.0679;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2885,232,0 1 151337690 151337690 G C exonic SELENBP1 nonsynonymous SNV SELENBP1:NM_001258288:exon9:c.C926G:p.S309C,SELENBP1:NM_001258289:exon10:c.C1238G:p.S413C,SELENBP1:NM_003944:exon10:c.C1112G:p.S371C 0.0014 . 0.0058 . 0.003 . 0.0015 0.0005 0.0004 0 0.0008 0.0024 0.0012 0 0.0014 0.0014 0.0014 . . rs146726959 . . . . . . . . . . . . . 0.131 0.266 T 0.0 0.067 B 0.001 0.063 B 0.379 0.134 N 1 0.090 N -0.705 0.018 N . . . -0.59 0.176 N 0.062 0.219 -1.055 0.130 T 0.032 0.138 T 0.003 0.078 T -0.025 0.091 2.350 0.717 0.094 0.042 0.096 N c -1.300 -1.305 0.975 0.296 0.632 0.406 0 -2.99 0.051 -0.945 0.040 -1.011 0.022 0.000 0.063 0.018 0.130 22.513 1.000 WD40/YVTN repeat-like-containing domain . . 0.0014 0.0004 0.0004 0.0002 0 0.0018 0.0025 0.0013 0 0.0013 0.0002 0.0012 0 0 0.0029 0.0017 0.0020 het 624.58 50 1 151337690 . G C 624.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.474;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.78;MQ0=0;MQRankSum=-0.531;QD=12.49;ReadPosRankSum=0.551;VQSLOD=4.8045;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:655,0,540 1 151341570 151341570 C T exonic SELENBP1 synonymous SNV SELENBP1:NM_001258289:exon4:c.G396A:p.S132S,SELENBP1:NM_003944:exon4:c.G270A:p.S90S 0.0072 . 0.0058 . 0.028 0.0041 0.0164 0.0037 0.0072 0.0002 0.0426 0.0225 0.0122 0.0044 0.018 0.0043 0.025 . 0.0082 rs41284998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0166 0.0034 0.0066 0.0022 0.0003 0.0417 0.0237 0.0139 0.0048 0.0180 0.0048 0.0095 0.0067 0 0.0461 0.0216 0.0193 het 2089.27 137 1 151341570 . C T 2089.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.667;DP=137;Dels=0.00;FS=1.407;HRun=0;HaplotypeScore=3.8609;MQ=58.79;MQ0=0;MQRankSum=-1.072;QD=15.25;ReadPosRankSum=1.150;VQSLOD=4.9472;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,78:137:99:2119,0,1382 1 151372138 151372138 G A exonic PSMB4 synonymous SNV PSMB4:NM_002796:exon1:c.G75A:p.P25P 0.49 0.33 0.47 0.21 0.83 0.67 0.6746 0.3679 0.3699 0.2253 0.7729 0.8191 0.7159 0.6900 0.67 0.39 0.82 0.48 0.8 rs7172 COSM3996916 4(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6680 0.3595 0.3947 0.7913 0.2228 0.7727 0.8214 0.7160 0.6879 0.6426 0.3709 0.5 0.79 0.2119 0.7784 0.8138 0.7429 hom 6158.26 199 1 151372138 . G A 6158.26 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.471;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2304;MQ=58.88;MQ0=0;MQRankSum=-1.349;QD=30.95;ReadPosRankSum=1.628;VQSLOD=5.5319;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,198:199:99:6126,459,0 1 151740666 151740666 T C exonic OAZ3 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9998 0.9976 0.9998 1 1 1 1 1 1. 1. 1. 1. . rs2495397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9974 0.9999 1 1 1 1 0.9998 1 0.9988 0.9960 1 1 1 1 1 0.9990 hom 1710.59 47 1 151740666 . T C 1710.59 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8311;MQ=59.60;MQ0=0;QD=36.40;VQSLOD=8.8733;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1744,138,0 1 151820298 151820298 G C exonic THEM5 nonsynonymous SNV THEM5:NM_182578:exon5:c.C616G:p.L206V 1. 0.99 1. 1. 1. 1. 0.9988 0.9861 0.9997 1 1 1 1 1 1. 0.99 1. 0.98 1. rs6587624 . . . . . . . . . . . . . 0.788 0.032 T 0.0 0.026 B 0.001 0.040 B 0.089 0.204 N 1 0.090 P -1.215 0.008 N 2.4 0.156 T -0.2 0.102 N 0.087 0.349 -0.957 0.398 T 0.009 0.032 T . . . -1.113 0.028 0.009 0.423 0.031 0.001 0.008 N c -0.858 -0.875 0.999 0.382 0.447 0.083 0 3.13 0.349 0.008 0.130 0.000 0.135 0.007 0.175 0.090 0.185 3.983 0.089 HotDog domain|Thioesterase domain . . 0.9990 0.9850 0.9997 1 1 1 1.0000 0.9998 1 0.9958 0.9852 1 1 1 1 1 1 hom 3166.52 105 1 151820298 . G C 3166.52 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.34;MQ0=0;QD=30.16;VQSLOD=8.9141;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3200,247,0 1 151820324 151820324 T C exonic THEM5 nonsynonymous SNV THEM5:NM_182578:exon5:c.A590G:p.D197G 0.78 0.88 0.87 0.68 0.83 0.63 0.7861 0.8749 0.8821 0.6513 0.9032 0.8020 0.7841 0.6225 0.83 0.86 0.81 0.69 0.79 rs6587625 . . . . . . . . . . . . . 0.921 0.023 T 0.0 0.026 B 0.0 0.013 B 0.001 0.406 N 1.000 0.197 P -2.175 0.001 N 2.71 0.121 T 3.22 0.001 N 0.083 0.571 -0.965 0.383 T 0.009 0.031 T . . . 0.415 0.134 6.742 0.508 0.044 0.038 0.090 N c -0.472 -0.352 1.000 0.467 0.554 0.283 0 4.17 0.481 0.703 0.251 0.002 0.136 0.998 0.411 0.818 0.342 7.141 0.246 HotDog domain|Thioesterase domain ENSG00000159445.8|ENSG00000234614.1 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.7909 0.8750 0.8853 0.6049 0.6565 0.9036 0.8124 0.7951 0.6205 0.8357 0.8676 0.8684 0.61 0.6675 0.9030 0.8240 0.8082 hom 2869.03 91 1 151820324 . T C 2869.03 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=31.53;VQSLOD=9.7653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2902,226,0 1 151825991 151825991 G T exonic THEM5 synonymous SNV THEM5:NM_182578:exon1:c.C51A:p.G17G 0.63 0.74 0.56 0.66 0.69 0.42 0.6443 0.7405 0.5834 0.6253 0.8264 0.6736 0.6575 0.4440 0.69 0.72 0.68 0.63 0.63 rs7556386 COSM4142630 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6469 0.7397 0.6065 0.4519 0.6326 0.8294 0.6851 0.6459 0.4441 0.7184 0.7402 0.6226 0.46 0.6525 0.8253 0.7012 0.6748 hom 5757.09 204 1 151825991 . G T 5757.09 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9909;MQ=58.97;MQ0=0;QD=28.22;VQSLOD=7.7804;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:5,199:204:99:5756,472,0 1 151867560 151867560 G A exonic THEM4 synonymous SNV THEM4:NM_053055:exon2:c.C210T:p.D70D 0.92 0.9 0.91 0.95 0.92 0.94 0.9148 0.9125 0.9121 0.9453 0.9138 0.9116 0.8877 0.9171 0.91 0.91 0.91 0.9 0.89 rs3762427 COSM5983438 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9154 0.9126 0.9144 0.8937 0.9447 0.9165 0.9134 0.9110 0.9159 0.9126 0.9123 0.9117 0.9067 0.9352 0.9147 0.9107 0.9020 hom 3098.94 111 1 151867560 . G A 3098.94 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8149;MQ=50.25;MQ0=4;QD=27.92;VQSLOD=2.8641;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:4,107:111:99:3132,253,0 1 152085505 152085505 A C exonic TCHH nonsynonymous SNV TCHH:NM_007113:exon3:c.T188G:p.L63R 0.99 0.96 1. 1. 1. 1. 0.9970 0.9659 0.9984 1 1 0.9999 0.9989 0.9998 0.99 0.97 1. 0.99 1. rs2515663 . . . . . . . . . . . . . 1.0 0.010 T 0.197 0.279 B 0.003 0.080 B . . . 0.948 0.266 P -1.75 0.003 N 2.55 0.138 T 4.59 0.000 N 0.08 0.072 -0.948 0.413 T 0.003 0.009 T . . . 1.590 0.253 13.80 0.933 0.224 0.011 0.039 N c -1.068 -0.867 0.984 0.306 0.598 0.340 0 4.58 0.559 0.520 0.224 0.065 0.171 0.254 0.247 0.854 0.356 10.346 0.429 EF-Hand 1\x2c calcium-binding site|EF-hand domain|EF-hand domain pair|S100/Calbindin-D9k\x2c conserved site . . 0.9975 0.9648 0.9984 1 1 1 0.9999 0.9985 0.9998 0.9901 0.9659 0.9964 1 1 1 0.9997 0.9969 hom 1798.72 62 1 152085505 . A C 1798.72 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=29.01;VQSLOD=8.4978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1832,156,0 1 152191709 152191709 C G exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G2396C:p.S799T 0.53 0.47 0.55 0.33 0.83 0.51 0.7062 0.5120 0.5248 0.3894 0.8246 0.8285 0.7219 0.5783 0.73 0.52 0.83 0.65 0.84 rs6662450 COSM1180639 2(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.807 0.031 T 0.334 0.315 B 0.014 0.158 B . . . 1 0.090 P 2.095 0.583 M 3.47 0.052 T -0.82 0.225 N 0.033 0.013 -0.921 0.455 T 0.003 0.010 T . . . 0.114 0.105 3.757 0.461 0.036 0.119 0.167 N c -0.991 -1.046 0.001 0.076 0.487 0.133 0 2.17 0.266 -0.418 0.071 0.760 0.310 0.000 0.063 0.002 0.062 7.835 0.284 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.7026 0.5096 0.5378 0.6920 0.3887 0.8253 0.8363 0.7162 0.5809 0.7219 0.5213 0.6098 0.6954 0.4034 0.8242 0.8516 0.7771 het 2437.70 171 1 152191709 . C G 2437.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.307;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5036;MQ=59.40;MQ0=0;MQRankSum=-0.382;QD=14.26;ReadPosRankSum=-0.113;VQSLOD=5.0623;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,88:171:99:2468,0,2352 1 152191879 152191879 G A exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.C2226T:p.H742H 0.56 0.53 0.56 0.38 0.83 0.51 0.7143 0.5783 0.5271 0.4128 0.8243 0.8290 0.7269 0.5802 0.75 0.59 0.83 0.71 0.84 rs10788828 COSM5425303 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7097 0.5774 0.5413 0.6956 0.4127 0.8252 0.8367 0.7226 0.5829 0.7432 0.5906 0.6146 0.6987 0.4269 0.8242 0.8523 0.7827 het 4073.40 250 1 152191879 . G A 4073.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.535;DP=250;DS;Dels=0.00;FS=4.457;HRun=0;HaplotypeScore=4.8311;MQ=59.40;MQ0=0;MQRankSum=0.724;QD=16.29;ReadPosRankSum=-1.383;VQSLOD=3.8494;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,124:250:99:3366,0,3328 1 152192555 152192555 T C exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1550G:p.Y517C 0.29 0.024 0.39 0.6 0.14 0.43 0.2286 0.0396 0.4476 0.5706 0.1683 0.1484 0.2335 0.3634 0.11 0.047 0.14 0.16 0.11 rs41266134 COSM4142667 1(thyroid) . . . . . . . . . . . 0.087 0.324 T 0.003 0.102 B 0.001 0.040 B . . . 1 0.090 P 2.36 0.681 M 4.67 0.018 T -1.31 0.328 N 0.082 0.075 -0.915 0.462 T 0.001 0.003 T . . . -1.570 0.015 0.002 0.454 0.035 0.003 0.014 N c -1.753 -1.875 0.005 0.108 0.554 0.283 0 -6.02 0.020 -6.226 0.001 -0.889 0.027 0.000 0.063 0.000 0.016 0.352 0.003 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000163207.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2408 0.0360 0.4297 0.2799 0.5678 0.1673 0.1399 0.2413 0.3603 0.1385 0.0413 0.3556 0.2748 0.5562 0.1663 0.1262 0.1810 het 4411.91 250 1 152192555 . T C 4411.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.362;DP=250;DS;Dels=0.00;FS=4.368;HRun=0;HaplotypeScore=5.3818;MQ=59.52;MQ0=0;MQRankSum=1.956;QD=17.65;ReadPosRankSum=-1.298;VQSLOD=2.8804;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3704,0,3435 1 152192631 152192631 C T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G1474A:p.G492R 0.56 0.53 0.56 0.38 0.83 0.51 0.7142 0.5772 0.5270 0.4129 0.8243 0.8290 0.7269 0.5803 0.75 0.59 0.83 0.6 0.84 rs6587647 COSM3996925 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D 0.105 0.244 B 0.007 0.121 B . . . 1 0.090 P 1.77 0.460 L 3.37 0.059 T -3.94 0.733 D 0.061 0.045 -0.916 0.461 T 0.004 0.014 T . . . 0.349 0.128 6.160 0.530 0.048 0.002 0.009 N c -1.410 -1.508 0.000 0.042 0.554 0.283 0 -3.36 0.046 -3.280 0.006 -0.832 0.030 0.000 0.063 0.000 0.016 8.767 0.337 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.7097 0.5775 0.5412 0.6956 0.4126 0.8253 0.8367 0.7226 0.5830 0.7421 0.5893 0.6175 0.7 0.4261 0.8239 0.8513 0.7803 het 4688.82 250 1 152192631 . C T 4688.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.763;DP=250;DS;Dels=0.00;FS=2.920;HRun=0;HaplotypeScore=7.9810;MQ=59.15;MQ0=0;MQRankSum=-1.127;QD=18.76;ReadPosRankSum=-0.124;VQSLOD=2.6034;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,132:250:99:3974,0,3103 1 152192687 152192687 T C exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1418G:p.E473G 0.94 0.79 0.98 1. 1. 1. 0.9857 0.8434 0.9947 0.9997 1 0.9996 0.9901 0.9998 0.95 0.85 1. 0.88 1. rs6587648 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.905 0.002 N 4.63 0.019 T 1.82 0.005 N 0.04 0.020 -0.989 0.328 T 0.001 0.003 T . . . -0.603 0.050 0.123 0.739 0.102 0.002 0.009 N c -1.820 -1.810 0.000 0.029 0.554 0.283 0 -0.456 0.115 -0.100 0.109 -0.577 0.045 0.000 0.063 0.000 0.016 6.671 0.221 . . . 0.9890 0.8433 0.9935 0.9999 1 1 0.9996 0.9934 0.9995 0.9571 0.8506 0.9916 1 1 1 0.9993 0.9929 hom 9064.67 250 1 152192687 . T C 9064.67 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=36.26;VQSLOD=9.1164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:9064,719,0 1 152192825 152192825 C T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G1280A:p.G427D 0.35 0.21 0.28 0.29 0.59 0.39 0.4962 0.2507 0.2859 0.3500 0.6308 0.5938 0.5055 0.4261 0.48 0.26 0.59 0.29 0.59 rs6666097 COSM5425304 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.009 0.574 D 0.895 0.473 P 0.356 0.412 B . . . 1 0.090 P 2.395 0.694 M 3.69 0.041 T -2.21 0.496 N 0.089 0.086 -0.886 0.493 T 0.004 0.012 T . . . 0.157 0.109 4.223 0.718 0.094 0.013 0.045 N c -0.641 -0.807 0.000 0.029 0.554 0.246 0 0.311 0.150 -2.616 0.009 0.756 0.309 0.000 0.063 0.001 0.043 3.523 0.073 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143520.6|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Uterus 0.4923 0.2513 0.2977 0.4456 0.3501 0.6313 0.5998 0.4974 0.4274 0.4974 0.2610 0.3437 0.4669 0.3632 0.6377 0.6219 0.5666 het 2860.70 222 1 152192825 . C T 2860.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.533;DP=222;DS;Dels=0.00;FS=5.689;HRun=0;HaplotypeScore=4.3230;MQ=59.11;MQ0=0;MQRankSum=-0.492;QD=12.89;ReadPosRankSum=-0.652;VQSLOD=4.2352;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:114,107:222:99:2891,0,3407 1 152192978 152192978 T C exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1127G:p.Q376R 0.94 0.79 0.98 1. 1. 1. 0.9858 0.8434 0.9947 1 1 0.9996 0.9901 0.9998 0.95 0.85 1. 0.99 1. rs6587649 . . . . . . . . . . . . . 0.122 0.276 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.66 0.426 L 4.04 0.032 T -0.61 0.181 N 0.01 0.001 -0.909 0.470 T 0.002 0.005 T . . . -1.796 0.011 0.002 0.349 0.022 0.009 0.036 N c -1.967 -2.055 0.766 0.236 0.554 0.246 0 -8.53 0.008 -3.176 0.006 -2.900 0.002 0.000 0.063 0.000 0.016 8.919 0.346 . . . 0.9890 0.8433 0.9935 0.9999 1 1.0000 0.9996 0.9938 0.9995 0.9570 0.8503 0.9916 1 1 0.9997 0.9993 0.9928 hom 8001.23 249 1 152192978 . T C 8001.23 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.19;MQ0=0;QD=32.13;VQSLOD=9.4751;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7999,677,0 1 152193286 152193286 G T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.C819A:p.H273Q 0.35 0.21 0.28 0.29 0.59 0.39 0.4964 0.2538 0.2861 0.3485 0.6308 0.5937 0.5066 0.4261 0.48 0.26 0.59 0.32 0.58 rs7545406 COSM146613 1(stomach);2(haematopoietic_and_lymphoid_tissue);4(prostate) . . . . . . . . . . . 0.237 0.179 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 1.825 0.480 L 4.09 0.030 T -0.23 0.107 N 0.014 0.002 -0.901 0.480 T 0.001 0.003 T . . . -2.245 0.005 0.001 0.624 0.068 0.001 0.008 N c -2.211 -2.311 0.932 0.270 0.487 0.133 0 -8.81 0.007 -2.345 0.012 -3.409 0.001 0.000 0.063 0.000 0.016 0.981 0.013 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143520.6|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Uterus 0.4925 0.2544 0.2979 0.4455 0.3500 0.6313 0.5998 0.4974 0.4274 0.4977 0.2640 0.3398 0.4669 0.3611 0.6375 0.6214 0.5629 het 4097.83 249 1 152193286 . G T 4097.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.383;DP=249;DS;Dels=0.00;FS=2.845;HRun=1;HaplotypeScore=7.8084;MQ=58.95;MQ0=0;MQRankSum=0.897;QD=16.46;ReadPosRankSum=0.047;VQSLOD=3.7051;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,117:249:99:3387,0,4082 1 152193291 152193291 G T exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.C814A:p.R272R 0.56 0.53 0.56 0.38 0.83 0.51 0.7141 0.5780 0.5271 0.4110 0.8243 0.8290 0.7269 0.5802 0.75 0.59 0.83 0.71 0.84 rs6587652 COSM146614 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7096 0.5772 0.5412 0.6956 0.4126 0.8252 0.8367 0.7225 0.5829 0.7413 0.5884 0.6118 0.6987 0.4234 0.8238 0.8511 0.7780 het 4065.34 250 1 152193291 . G T 4065.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.000;DP=250;DS;Dels=0.00;FS=6.980;HRun=2;HaplotypeScore=6.7689;MQ=58.85;MQ0=0;MQRankSum=1.923;QD=16.26;ReadPosRankSum=-0.543;VQSLOD=3.1664;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3372,0,3502 1 152193544 152193544 A G exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.T561C:p.H187H 0.53 0.47 0.55 0.33 0.83 0.51 0.7062 0.5122 0.5246 0.3890 0.8243 0.8285 0.7219 0.5787 0.73 0.52 0.83 0.65 0.84 rs7535536 COSM146615 1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7027 0.5101 0.5379 0.6920 0.3884 0.8253 0.8363 0.7162 0.5812 0.7222 0.5216 0.6089 0.6954 0.4065 0.8237 0.8517 0.7796 het 2411.21 166 1 152193544 . A G 2411.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.895;DP=166;DS;Dels=0.00;FS=2.273;HRun=1;HaplotypeScore=3.6282;MQ=59.49;MQ0=0;MQRankSum=0.286;QD=14.53;ReadPosRankSum=0.673;VQSLOD=5.4601;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,82:166:99:2441,0,2415 1 152193547 152193547 G A exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.C558T:p.S186S 0.94 0.79 0.98 1. 1. 1. 0.9858 0.8432 0.9947 1 1 0.9996 0.9901 0.9998 0.95 0.85 1. 0.99 1. rs6587653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9890 0.8433 0.9935 0.9999 1 1 0.9996 0.9934 0.9995 0.9570 0.8498 0.9916 1 1 1 0.9993 0.9929 hom 5773.36 164 1 152193547 . G A 5773.36 Mask AC=2;AF=1.00;AN=2;DP=164;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8820;MQ=59.48;MQ0=0;QD=35.20;VQSLOD=8.4097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5773,460,0 1 152193851 152193851 C T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G254A:p.R85H 0.53 0.47 0.55 0.33 0.83 0.51 0.7062 0.5128 0.5252 0.3880 0.8243 0.8284 0.7219 0.5788 0.73 0.52 0.83 0.64 0.83 rs11204937 COSM3996926 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.402 0.104 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.209 P -0.69 0.019 N 3.31 0.063 T 1.36 0.009 N 0.037 0.017 -0.915 0.463 T 0.002 0.007 T . . . 1.036 0.193 10.87 0.625 0.068 0.447 0.271 N c -1.219 -1.043 0.000 0.029 0.595 0.332 0 0.954 0.186 0.506 0.222 -1.985 0.005 1.000 0.715 0.000 0.016 7.362 0.258 EF-hand domain pair ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.7026 0.5103 0.5380 0.6919 0.3883 0.8254 0.8363 0.7162 0.5812 0.7224 0.5230 0.6098 0.6954 0.4012 0.8236 0.8520 0.7786 het 1701.69 110 1 152193851 . C T 1701.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.870;DP=110;Dels=0.00;FS=2.476;HRun=0;HaplotypeScore=0.9159;MQ=59.43;MQ0=0;MQRankSum=-0.816;QD=15.47;ReadPosRankSum=-0.199;VQSLOD=6.4481;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,63:110:99:1732,0,1280 1 152195729 152195729 T - exonic HRNR startloss HRNR:NM_001009931:exon2:c.1delA:p.P2Ffs*14 0.87 0.73 0.88 0.95 0.96 0.89 0.7530 0.6723 0.7212 0.7208 0.7655 0.7694 0.7599 0.7773 . . . . . rs530205886 COSM111478 2(ovary);2(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9028 0.7227 0.8276 0.9554 0.9063 0.9541 0.9411 0.9142 0.9069 0.9402 0.8073 0.9367 1 0.9932 0.9970 0.9975 0.9806 hom 1025.28 63 1 152195728 . AT A 1025.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.299;DP=63;FS=0.000;HRun=11;HaplotypeScore=175.9091;MQ=58.18;MQ0=0;MQRankSum=0.433;QD=16.27;ReadPosRankSum=0.072;set=variant2 GT:AD:DP:GQ:PL 1/1:13,47:63:99:1067,109,0 1 152276889 152276889 A G exonic FLG synonymous SNV FLG:NM_002016:exon3:c.T10473C:p.N3491N 0.52 0.79 0.46 0.65 0.15 0.46 0.3007 0.7136 0.4828 0.5955 0.1741 0.1563 0.2753 0.3950 0.33 0.69 0.15 0.34 0.11 rs3126067 COSM3996931 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3003 0.7195 0.4690 0.2978 0.5952 0.1728 0.1479 0.2800 0.3924 0.3308 0.6970 0.4038 0.2872 0.5775 0.1718 0.1322 0.2195 het 2807.25 248 1 152276889 . A G 2807.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.215;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2590;MQ=56.95;MQ0=1;MQRankSum=0.209;QD=11.32;ReadPosRankSum=0.053;VQSLOD=3.7358;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,107:248:99:2837,0,4187 1 152277345 152277345 C T exonic FLG synonymous SNV FLG:NM_002016:exon3:c.G10017A:p.Q3339Q 0.29 0.011 0.39 0.58 0.14 0.43 0.2293 0.0312 0.4480 0.5600 0.1730 0.1495 0.2313 0.3733 0.11 0.036 0.14 0.14 0.11 rs2065956 COSM3996933 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2422 0.0286 0.4292 0.2814 0.5591 0.1717 0.1415 0.2423 0.3711 0.1370 0.0346 0.3565 0.2748 0.5479 0.1697 0.1271 0.1779 het 3146 248 1 152277345 . C T 3146 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.072;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.6094;MQ=58.58;MQ0=2;MQRankSum=2.173;QD=12.69;ReadPosRankSum=-0.529;VQSLOD=2.2472;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:138,110:248:99:3176,0,4175 1 152277396 152277396 T C exonic FLG synonymous SNV FLG:NM_002016:exon3:c.A9966G:p.Q3322Q 0.34 0.12 0.42 0.61 0.17 0.49 0.2611 0.1267 0.4638 0.5814 0.1810 0.1719 0.2511 0.4299 0.16 0.13 0.17 0.2 0.16 rs6681433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2721 0.1287 0.4474 0.3061 0.5786 0.1796 0.1644 0.2678 0.4277 0.1772 0.1296 0.3717 0.3013 0.5631 0.1801 0.1483 0.1926 het 4381.22 249 1 152277396 . T C 4381.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.094;DP=249;DS;Dels=0.00;FS=2.168;HRun=1;HaplotypeScore=4.5556;MQ=59.20;MQ0=0;MQRankSum=-1.133;QD=17.60;ReadPosRankSum=0.579;VQSLOD=4.0377;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,122:249:99:3658,0,3688 1 152281007 152281007 A G exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.T6355C:p.Y2119H 0.33 0.38 0.34 0.44 0.13 0.34 0.2207 0.3608 0.3523 0.4116 0.1550 0.1381 0.2280 0.3001 0.2 0.33 0.13 . 0.11 rs7512553 COSM5037981 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 N -2.52 0.001 N 4.33 0.024 T 1.18 0.011 N 0.012 0.001 -0.997 0.308 T 0.001 0.002 T . . . -1.763 0.012 0.002 0.406 0.029 0.000 0.002 N c -2.146 -2.020 0.000 0.029 0.554 0.246 0 1.28 0.206 -0.189 0.095 -0.554 0.047 0.000 0.063 0.000 0.016 3.517 0.072 . . . 0.2243 0.3640 0.3447 0.2452 0.4126 0.1544 0.1318 0.2236 0.2979 0.2135 0.3618 0.2988 0.2282 0.4062 0.1514 0.1187 0.1830 het 2479.43 250 1 152281007 . A G 2479.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.847;DP=250;DS;Dels=0.00;FS=2.317;HRun=0;HaplotypeScore=8.8450;MQ=57.02;MQ0=1;MQRankSum=1.280;QD=9.92;ReadPosRankSum=0.824;VQSLOD=2.3650;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:158,92:250:99:2509,0,4728 1 152281008 152281008 A G exonic FLG synonymous SNV FLG:NM_002016:exon3:c.T6354C:p.H2118H 0.33 0.38 0.34 0.44 0.13 0.34 0.2207 0.3608 0.3522 0.4116 0.1550 0.1381 0.2280 0.3001 0.19 0.33 0.13 . 0.11 rs7512554 COSM5038015 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2243 0.3640 0.3447 0.2452 0.4126 0.1544 0.1318 0.2236 0.2979 0.2134 0.3616 0.2988 0.23 0.4058 0.1512 0.1184 0.1836 het 2414.22 250 1 152281008 . A G 2414.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.919;DP=250;DS;Dels=0.00;FS=5.575;HRun=0;HaplotypeScore=7.9292;MQ=57.23;MQ0=1;MQRankSum=0.208;QD=9.66;ReadPosRankSum=1.416;VQSLOD=2.2117;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:160,90:250:99:2444,0,4839 1 152281039 152281039 G A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C6323T:p.A2108V . . . . . . 0.2208 0.3621 0.3521 0.4111 0.1550 0.1382 0.2269 0.3001 0.21 0.36 0.13 0.054 0.11 rs7522925 COSM4142692 1(skin);1(thyroid) . . . . . . . . . . . 0.115 0.285 T 0.324 0.313 B 0.021 0.181 B . . . 1 0.090 N 1.1 0.281 L 4.67 0.018 T -1.27 0.320 N 0.011 0.001 -0.931 0.441 T 0.001 0.004 T . . . 0.896 0.179 10.05 0.386 0.026 0.006 0.025 N c -1.813 -1.956 0.013 0.124 0.554 0.246 0 -6.74 0.016 -3.262 0.006 -1.948 0.005 0.000 0.063 0.000 0.016 6.099 0.191 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.2245 0.3652 0.3448 0.2452 0.4126 0.1544 0.1319 0.2235 0.2979 0.2133 0.3624 0.2990 0.23 0.4068 0.1508 0.1183 0.1818 het 2591.69 250 1 152281039 . G A 2591.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.015;DP=250;DS;Dels=0.00;FS=2.922;HRun=0;HaplotypeScore=5.2382;MQ=58.14;MQ0=0;MQRankSum=-0.387;QD=10.37;ReadPosRankSum=1.441;VQSLOD=3.7913;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:150,99:250:99:2622,0,4399 1 152281948 152281948 G A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C5414T:p.A1805V 0.29 0.011 0.39 0.58 0.14 0.43 0.2288 0.0312 0.4471 0.5616 0.1728 0.1493 0.2291 0.3701 0.11 0.036 0.14 0.065 0.11 rs12405241 COSM3996940 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.39 0.108 T 0.999 0.764 D 0.959 0.685 D . . . 1 0.090 P 2.71 0.795 M 4.62 0.019 T -1.73 0.410 N 0.016 0.003 -0.975 0.361 T 0.004 0.013 T . . . 0.920 0.182 10.19 0.916 0.203 0.004 0.020 N c -1.144 -1.440 0.000 0.048 0.554 0.246 0 -3.56 0.043 -5.865 0.001 -1.746 0.007 0.000 0.063 0.000 0.016 0.762 0.009 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2416 0.0286 0.4283 0.2805 0.5597 0.1713 0.1412 0.2423 0.3678 0.1372 0.0348 0.3558 0.2767 0.5496 0.1698 0.1274 0.1760 het 2974 248 1 152281948 . G A 2974 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.565;DP=248;DS;Dels=0.00;FS=4.436;HRun=0;HaplotypeScore=3.5832;MQ=58.19;MQ0=0;MQRankSum=0.918;QD=11.99;ReadPosRankSum=-1.085;VQSLOD=4.2712;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,113:248:99:3004,0,3916 1 152282267 152282267 G A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C5095T:p.R1699C 0.29 0.012 0.39 0.58 0.14 0.43 0.2288 0.0312 0.4475 0.5618 0.1728 0.1493 0.2291 0.3702 0.11 0.036 0.14 0.17 0.12 rs12405278 COSM3996941 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.002 0.721 D 0.999 0.764 D 0.912 0.630 D . . . 1 0.090 P 1.7 0.440 L 3.66 0.043 T -2.34 0.518 N 0.053 0.035 -1.024 0.223 T 0.015 0.061 T . . . 4.120 0.553 23.8 0.530 0.048 0.029 0.075 N c -0.532 -0.781 0.000 0.035 0.554 0.246 0 1.76 0.237 -0.071 0.114 -1.282 0.014 0.000 0.063 0.000 0.016 7.611 0.271 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2416 0.0286 0.4285 0.2805 0.5597 0.1713 0.1412 0.2423 0.3678 0.1369 0.0346 0.3553 0.2767 0.55 0.1697 0.1269 0.1779 het 4352.94 250 1 152282267 . G A 4352.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.871;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4919;MQ=59.29;MQ0=0;MQRankSum=1.189;QD=17.41;ReadPosRankSum=0.754;VQSLOD=3.9221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,128:250:99:3641,0,3129 1 152282917 152282917 G T exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C4445A:p.S1482Y 0.29 0.011 0.39 0.58 0.14 0.43 0.2287 0.0312 0.4472 0.5608 0.1728 0.1493 0.2291 0.3700 0.11 0.036 0.14 0.17 0.11 rs11204978 COSM3996942 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.005 0.632 D 0.767 0.418 P 0.341 0.407 B . . . 1 0.090 P 2.765 0.810 M 3.8 0.038 T -2.8 0.592 D 0.041 0.021 -0.973 0.366 T 0.006 0.019 T . . . 2.678 0.383 20.7 0.808 0.129 0.019 0.058 N c -0.692 -0.901 0.000 0.029 0.554 0.246 0 0.67 0.170 0.004 0.129 0.788 0.318 0.000 0.063 0.001 0.043 4.955 0.133 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2416 0.0286 0.4285 0.2805 0.5595 0.1713 0.1412 0.2425 0.3676 0.1369 0.0345 0.3565 0.2748 0.5473 0.1692 0.1269 0.1783 het 2933.13 250 1 152282917 . G T 2933.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.423;DP=250;DS;Dels=0.00;FS=0.490;HRun=0;HaplotypeScore=1.8490;MQ=59.31;MQ0=0;MQRankSum=1.125;QD=11.73;ReadPosRankSum=-0.993;VQSLOD=5.8298;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:2963,0,4009 1 152283568 152283568 T C exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.A3794G:p.H1265R 0.0054 0.0023 0.01 . 0.017 . 0.0150 0.0041 0.0086 0 0.0222 0.0225 0.0077 0.0017 0.014 0.0032 0.02 . . rs11581512 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 N -1.345 0.007 N 4.4 0.022 T 0.41 0.034 N 0.008 0.000 -0.923 0.452 T 0.000 0.002 T . . . -2.337 0.004 0.001 0.295 0.016 0.003 0.018 N c -2.218 -2.209 0.018 0.130 0.554 0.246 0 -6.78 0.016 -1.490 0.024 -1.962 0.005 0.000 0.063 0.000 0.016 6.558 0.215 . . . 0.0142 0.0031 0.0067 0.0019 5.798e-05 0.0235 0.0226 0.0170 0.0018 0.0140 0.0023 0.0108 0 0 0.0212 0.0209 0.0154 het 4175.27 250 1 152283568 . T C 4175.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.546;DP=250;DS;Dels=0.00;FS=5.382;HRun=0;HaplotypeScore=5.3071;MQ=58.84;MQ0=0;MQRankSum=-0.306;QD=16.70;ReadPosRankSum=0.345;VQSLOD=3.7797;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,124:250:99:3479,0,3420 1 152285077 152285080 ACTG - exonic FLG frameshift deletion FLG:NM_002016:exon3:c.2282_2285del:p.S761Cfs*35 0.0054 0.0015 0.0043 . 0.014 0.0082 0.0134 0.0037 0.0013 0 0.0127 0.0204 0.0088 0.0074 0.017 0.008 0.021 . . rs558269137 . . Pathogenic|other|Uncertain significance|Uncertain significance|Likely benign|Pathogenic Ichthyosis_vulgaris|Dermatitis\x2c_atopic\x2c_2\x2c_susceptibility_to|Dermatitis\x2c_atopic\x2c_2|Ichthyosis_vulgaris|not_specified|not_provided RCV000017714.28|RCV000017715.3|RCV000191085.1|RCV000191085.1|RCV000238626.1|RCV000256057.2 MedGen:OMIM|MedGen:OMIM|MedGen|MedGen C1853965:605803|C0079584:146700|CN169374|CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0129 0.0033 0.0014 0.0077 0.0001 0.0143 0.0214 0.0108 0.0072 0.0152 0.0044 0.0036 0 0 0.0160 0.0237 0.0174 het 5043.17 243 1 152285076 . CACTG C 5043.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.668;DP=243;DS;FS=0.000;HRun=0;HaplotypeScore=1540.1528;MQ=54.87;MQ0=0;MQRankSum=-2.509;QD=20.17;ReadPosRankSum=-0.849;set=variant2 GT:AD:DP:GQ:PL 0/1:137,113:243:99:5043,0,9485 1 152285930 152285930 G A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C1432T:p.P478S 0.34 0.13 0.42 0.61 0.17 0.49 0.2613 0.1364 0.4642 0.5820 0.1806 0.1715 0.25 0.4261 0.16 0.14 0.17 0.24 0.16 rs11584340 COSM4985363 9(soft_tissue) . . . . . . . . . . . 1.0 0.010 T 0.02 0.170 B 0.034 0.212 B . . . 1 0.090 P -2.595 0.000 N 5.59 0.009 T 1.57 0.007 N 0.013 0.002 -0.999 0.302 T 0.000 0.001 T . . . -2.430 0.004 0.001 0.668 0.079 0.000 0.002 N c -2.103 -2.073 0.000 0.044 0.554 0.246 0 -3.12 0.049 -1.806 0.018 -0.834 0.030 0.000 0.063 0.000 0.016 3.067 0.058 . ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Colon_Sigmoid|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Thyroid 0.2718 0.1367 0.4474 0.3049 0.5787 0.1791 0.1639 0.2683 0.4236 0.1799 0.1390 0.3735 0.3067 0.5655 0.1786 0.1480 0.1969 het 4038.58 250 1 152285930 . G A 4038.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.144;DP=250;DS;Dels=0.00;FS=12.970;HRun=0;HaplotypeScore=2.9288;MQ=59.49;MQ0=0;MQRankSum=-0.196;QD=16.15;ReadPosRankSum=-0.714;VQSLOD=3.3452;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,122:250:99:3339,0,3732 1 152286002 152286002 T C exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.A1360G:p.T454A 0.46 0.52 0.45 0.66 0.17 0.49 0.2949 0.4821 0.4770 0.6055 0.1805 0.1728 0.2720 0.4278 0.27 0.47 0.17 0.3 0.17 rs2011331 COSM4142699 1(skin);1(thyroid) . . . . . . . . . . . 0.37 0.115 T 0.04 0.198 B 0.006 0.112 B . . . 1 0.090 P -0.805 0.016 N 4.4 0.022 T 0.27 0.043 N 0.012 0.001 -0.902 0.478 T 0.001 0.002 T . . . -0.146 0.080 1.414 0.412 0.029 0.001 0.006 N c -2.171 -2.249 0.786 0.239 0.487 0.133 0 -6.86 0.015 -1.309 0.028 -0.680 0.039 0.000 0.063 0.000 0.016 0.086 0.000 . ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.2988 0.4876 0.4630 0.3104 0.6033 0.1791 0.1651 0.2842 0.4257 0.2778 0.4778 0.3971 0.3079 0.5852 0.1792 0.1493 0.2121 het 4548.46 250 1 152286002 . T C 4548.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.785;DP=250;DS;Dels=0.00;FS=7.129;HRun=0;HaplotypeScore=7.7081;MQ=59.39;MQ0=0;MQRankSum=-0.056;QD=18.19;ReadPosRankSum=0.218;VQSLOD=3.0629;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,140:250:99:3843,0,3069 1 152286032 152286032 C T exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.G1330A:p.G444R 0.29 0.011 0.39 0.58 0.14 0.43 0.2287 0.0312 0.4475 0.5609 0.1728 0.1492 0.2291 0.3699 0.11 0.036 0.14 0.17 0.11 rs11588170 COSM3996946 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.268 0.161 T 0.942 0.510 P 0.816 0.571 P . . . 1 0.090 P 1.985 0.540 M 5.72 0.008 T -3.15 0.641 D 0.032 0.012 -0.906 0.474 T 0.002 0.006 T . . . 0.431 0.135 6.882 0.869 0.163 0.010 0.038 N c -0.778 -1.032 0.000 0.029 0.487 0.133 0 -0.615 0.110 -0.350 0.077 -0.675 0.039 0.000 0.063 0.000 0.016 3.006 0.056 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2415 0.0286 0.4287 0.2805 0.5592 0.1714 0.1411 0.2423 0.3676 0.1366 0.0346 0.3568 0.2781 0.5443 0.1686 0.1269 0.1755 het 4812.97 250 1 152286032 . C T 4812.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.812;DP=250;DS;Dels=0.00;FS=4.303;HRun=0;HaplotypeScore=5.3525;MQ=58.96;MQ0=0;MQRankSum=0.702;QD=19.25;ReadPosRankSum=-0.617;VQSLOD=3.6324;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,135:250:99:4087,0,3444 1 152286367 152286367 C A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.G995T:p.G332V 0.34 0.12 0.42 0.61 0.17 0.49 0.2603 0.1265 0.4634 0.5803 0.1805 0.1715 0.25 0.4261 0.16 0.13 0.17 0.24 0.16 rs41267154 . . . . . . . . . . . . . 0.089 0.321 T 1.0 0.899 D 0.995 0.818 D . . . 1 0.090 P 2.595 0.761 M 4.69 0.017 T -2.82 0.595 D 0.069 0.056 -0.920 0.455 T 0.008 0.027 T . . . 1.865 0.285 15.37 0.838 0.144 0.031 0.079 N c -0.350 -0.631 0.000 0.029 0.554 0.246 0 1.2 0.201 -0.476 0.066 0.019 0.143 0.000 0.063 0.001 0.043 5.380 0.154 . ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Colon_Sigmoid|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Thyroid 0.2711 0.1286 0.4469 0.3049 0.5784 0.1791 0.1639 0.2676 0.4235 0.1770 0.1302 0.3693 0.3067 0.5636 0.1791 0.1479 0.1939 het 2793.93 235 1 152286367 . C A 2793.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.986;DP=235;DS;Dels=0.00;FS=7.758;HRun=0;HaplotypeScore=7.4945;MQ=59.58;MQ0=0;MQRankSum=2.186;QD=11.89;ReadPosRankSum=0.205;VQSLOD=3.1986;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,107:235:99:2824,0,3784 1 152323132 152323132 G T exonic FLG2 stopgain FLG2:NM_001014342:exon3:c.C7130A:p.S2377X 0.32 0.29 0.4 0.46 0.14 0.33 0.2323 0.2706 0.3766 0.4564 0.1390 0.1670 0.2302 0.2914 0.19 0.26 0.16 0.28 0.11 rs12568784 COSM3996947 1(haematopoietic_and_lymphoid_tissue);6(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . 0.971 0.257 P . . . . . . . . . . . . . . . . . . . . 10.041 0.965 36 0.959 0.276 0.041 0.094 N c -0.093 -0.473 0.000 0.029 0.487 0.133 0 0.129 0.140 0.322 0.192 -0.024 0.128 0.000 0.063 0.000 0.016 2.590 0.045 . ENSG00000237975.2|ENSG00000143536.7|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2 Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid 0.2348 0.2700 0.3626 0.2858 0.4602 0.1332 0.1569 0.2434 0.2893 0.1987 0.2609 0.3210 0.2815 0.4654 0.1229 0.1430 0.1973 het 2295.29 160 1 152323132 . G T 2295.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.314;DP=160;Dels=0.00;FS=0.617;HRun=1;HaplotypeScore=4.9600;MQ=59.77;MQ0=0;MQRankSum=-0.239;QD=14.35;ReadPosRankSum=1.009;VQSLOD=5.2699;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,85:160:99:2325,0,2111 1 152329435 152329435 C T exonic FLG2 nonsynonymous SNV FLG2:NM_001014342:exon3:c.G827A:p.R276Q 0.35 0.36 0.42 0.5 0.14 0.33 0.2407 0.3354 0.3791 0.4827 0.1405 0.1679 0.2368 0.2918 0.22 0.33 0.16 0.29 0.12 rs2282303 . . . . . . . . . . . . . 1.0 0.010 T 0.005 0.119 B 0.0 0.013 B . . . 1 0.090 P -0.805 0.016 N 5.81 0.007 T 0.74 0.020 N 0.028 0.009 -1.090 0.055 T 0.000 0.002 T . . . -0.283 0.070 0.726 0.482 0.039 0.002 0.011 N c -1.115 -0.987 0.022 0.134 0.487 0.133 0 3.44 0.383 1.166 0.312 -0.243 0.092 0.034 0.205 0.005 0.090 7.919 0.288 . ENSG00000237975.2|ENSG00000143536.7|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000236427.1|ENSG00000143631.10|ENSG00000237975.2 Artery_Tibial|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Thyroid 0.2421 0.3366 0.3647 0.2857 0.4851 0.1350 0.1582 0.2499 0.2912 0.2201 0.3276 0.3258 0.2815 0.4826 0.1234 0.1457 0.2057 het 4565.04 243 1 152329435 . C T 4565.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.425;DP=243;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.6784;MQ=58.77;MQ0=0;MQRankSum=0.776;QD=18.79;ReadPosRankSum=0.874;VQSLOD=3.5440;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,136:243:99:3917,0,2535 1 152331240 152331240 G A exonic FLG2 nonsynonymous SNV FLG2:NM_001014342:exon2:c.C121T:p.L41F 0.37 0.45 0.42 0.5 0.15 0.33 0.2485 0.4179 0.3828 0.4783 0.1399 0.1686 0.2356 0.2939 0.24 0.4 0.16 0.35 0.082 rs3818831 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.189 P -0.8 0.016 N 2.36 0.161 T 5.05 0.000 N 0.079 0.071 -0.934 0.436 T 0.005 0.017 T . . . 1.064 0.196 11.02 0.609 0.064 0.011 0.039 N c -0.791 -0.549 0.041 0.145 0.487 0.133 0 5.26 0.734 2.275 0.428 0.168 0.246 0.995 0.385 0.985 0.512 8.297 0.310 EF-hand domain|EF-hand domain pair|S100/CaBP-9k-type\x2c calcium binding\x2c subdomain ENSG00000197915.5|ENSG00000237975.2|ENSG00000143536.7|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Thyroid|Thyroid 0.2479 0.4205 0.3686 0.2855 0.4813 0.1335 0.1590 0.2515 0.2912 0.2424 0.4109 0.3278 0.2815 0.4763 0.1235 0.1442 0.2057 het 2538.27 206 1 152331240 . G A 2538.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.511;DP=206;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2603;MQ=58.94;MQ0=0;MQRankSum=0.716;QD=12.32;ReadPosRankSum=0.106;VQSLOD=5.6958;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,98:206:99:2568,0,3015 1 152382120 152382120 C T exonic CRNN nonsynonymous SNV CRNN:NM_016190:exon3:c.G1438A:p.G480S 0.25 0.064 0.37 0.43 0.14 0.32 0.2071 0.0818 0.3470 0.4189 0.1373 0.1611 0.2026 0.2929 0.13 0.082 0.15 0.2 0.082 rs3829868 COSM3996949 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.101 0.303 T 0.18 0.274 B 0.079 0.272 B 0.078 0.210 N 1 0.090 P 1.195 0.303 L 3.01 0.091 T -3.08 0.633 D 0.072 0.061 -1.028 0.210 T 0.011 0.039 T . . . 1.673 0.262 14.26 0.865 0.160 0.016 0.051 N c -0.650 -0.678 0.000 0.068 0.516 0.203 0 4.01 0.457 -0.119 0.106 0.007 0.138 0.000 0.063 0.000 0.016 8.987 0.350 . ENSG00000143536.7|ENSG00000143631.10|ENSG00000237975.2 Esophagus_Mucosa|Thyroid|Thyroid 0.2126 0.0808 0.3333 0.2778 0.4213 0.1319 0.1513 0.2215 0.2874 0.1428 0.0864 0.2959 0.2616 0.4135 0.1220 0.1375 0.1840 het 1833.79 140 1 152382120 . C T 1833.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.518;DP=140;Dels=0.00;FS=7.638;HRun=1;HaplotypeScore=4.8622;MQ=59.26;MQ0=0;MQRankSum=0.677;QD=13.10;ReadPosRankSum=0.292;VQSLOD=4.9763;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,65:140:99:1864,0,2188 1 152636843 152636843 A T exonic LCE2D nonsynonymous SNV LCE2D:NM_178430:exon2:c.A262T:p.S88C 0.12 0.016 0.16 0.03 0.3 0.16 0.2081 0.0538 0.1213 0.0267 0.2156 0.2832 0.1875 0.1500 0.21 0.066 0.29 0.076 0.31 rs9793541 COSM5904691 1(skin) . . . . . . . . . . . 0.004 0.654 D 0.805 0.432 P 0.123 0.309 B . . . 1 0.090 P 2.4 0.697 M 3.35 0.060 T -3.61 0.694 D 0.046 0.026 -0.969 0.375 T 0.007 0.023 T . . . -1.301 0.022 0.004 0.323 0.019 0.045 0.099 N c -0.815 -1.017 0.000 0.029 0.487 0.133 0 0.291 0.149 0.445 0.212 0.025 0.148 0.003 0.159 0.001 0.043 4.694 0.121 . ENSG00000163206.5|ENSG00000163206.5|ENSG00000244057.2|ENSG00000172155.7|ENSG00000244057.2|ENSG00000198854.4|ENSG00000186226.7|ENSG00000198854.4|ENSG00000186226.7|ENSG00000172155.7|ENSG00000244057.2|ENSG00000244057.2 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.2052 0.0472 0.1342 0.1536 0.0262 0.2237 0.2907 0.2337 0.1490 0.1904 0.0543 0.1819 0.1424 0.0303 0.2172 0.2801 0.2213 het 1961.35 128 1 152636843 . A T 1961.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.080;DP=128;Dels=0.00;FS=2.332;HRun=0;HaplotypeScore=3.6951;MQ=57.67;MQ0=1;MQRankSum=0.666;QD=15.32;ReadPosRankSum=1.050;VQSLOD=3.8713;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,76:128:99:1991,0,1271 1 152681680 152681680 - AGCTCTGGGGGCTGCTGT exonic LCE4A nonframeshift insertion LCE4A:NM_178356:exon1:c.129_130insAGCTCTGGGGGCTGCTGT:p.C48_G49insCSSGGC 0.8 0.98 0.85 0.69 0.72 0.73 . . . . . . . . . . . . . rs6143428 COSM1334217 2(haematopoietic_and_lymphoid_tissue);22(upper_aerodigestive_tract);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7573 0.9273 0.7800 0.7061 0.6167 0.6665 0.6965 0.7040 het 12970.03 247 1 152681680 . C CAGCTCTGGGGGCTGCTGT 12970.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.443;DP=247;DS;FS=0.000;HRun=0;HaplotypeScore=2923.9669;MQ=53.71;MQ0=1;MQRankSum=-8.300;QD=52.30;ReadPosRankSum=-0.028;set=variant2 GT:AD:DP:GQ:PL 0/1:200,33:247:99:12970,0,14777 1 152732106 152732106 A T exonic KPRP nonsynonymous SNV KPRP:NM_001025231:exon2:c.A42T:p.Q14H 0.18 0.011 0.14 0.23 0.23 0.33 0.2249 0.0389 0.1592 0.2053 0.2400 0.2397 0.2346 0.3323 0.17 0.043 0.23 0.13 0.18 rs17612167 . . . . . . . . . . . . . . . . 0.681 0.395 P 0.264 0.379 B 0.051 0.230 N 1.000 0.200 P 0 0.065 N . . . . . . 0.067 0.054 -0.927 0.446 T 0.007 0.024 T . . . 2.319 0.340 18.29 0.981 0.375 0.186 0.201 N c -0.524 -0.470 1.000 0.517 0.487 0.133 0 -0.206 0.125 -0.266 0.086 -0.303 0.080 0.784 0.293 0.313 0.239 8.327 0.311 . ENSG00000172155.7 Skin_Sun_Exposed_Lower_leg 0.2226 0.0378 0.1533 0.2810 0.2042 0.2352 0.2347 0.2193 0.3301 0.1771 0.0413 0.1806 0.2815 0.2076 0.2378 0.2341 0.2150 het 2564.40 207 1 152732106 . A T 2564.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.730;DP=207;Dels=0.00;FS=1.237;HRun=0;HaplotypeScore=1.6385;MQ=59.56;MQ0=1;MQRankSum=-1.323;QD=12.39;ReadPosRankSum=-0.178;VQSLOD=5.5756;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:110,97:207:99:2594,0,3071 1 152733301 152733301 T A exonic KPRP nonsynonymous SNV KPRP:NM_001025231:exon2:c.T1237A:p.C413S 0.49 0.58 0.49 0.42 0.52 0.42 0.4814 0.5467 0.4659 0.4198 0.4508 0.4959 0.4658 0.4378 0.52 0.55 0.5 0.49 0.58 rs4329520 COSM3750365 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.017 0.163 B 0.013 0.154 B 0.025 0.262 N 1 0.090 P 0.975 0.246 L . . . . . . 0.033 0.013 -0.968 0.376 T 0.012 0.047 T . . . 1.375 0.229 12.66 0.714 0.093 0.057 0.114 N c -1.065 -1.118 0.997 0.349 0.487 0.133 0 -0.312 0.121 -0.461 0.067 1.061 0.807 0.000 0.063 0.017 0.128 0.340 0.003 . ENSG00000163206.5|ENSG00000163206.5|ENSG00000186226.7|ENSG00000186226.7|ENSG00000203786.5|ENSG00000172155.7|ENSG00000198854.4|ENSG00000186226.7|ENSG00000186226.7|ENSG00000172155.7|ENSG00000244057.2|ENSG00000187170.4 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.4806 0.5477 0.4739 0.4260 0.4172 0.4594 0.5037 0.4832 0.4385 0.4981 0.5379 0.4797 0.4040 0.4016 0.4499 0.5003 0.4847 het 2215.20 155 1 152733301 . T A 2215.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.355;DP=155;Dels=0.00;FS=2.906;HRun=1;HaplotypeScore=4.4179;MQ=59.34;MQ0=0;MQRankSum=-0.064;QD=14.29;ReadPosRankSum=1.691;VQSLOD=4.9986;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,76:155:99:2245,0,2096 1 152749091 152749091 C T exonic LCE1F nonsynonymous SNV LCE1F:NM_178354:exon1:c.C244T:p.R82W 0.091 0.0053 0.13 0.028 0.21 0.12 0.1691 0.0342 0.1066 0.0166 0.2010 0.2238 0.1759 0.1408 0.15 0.037 0.21 0.076 0.14 rs41268480 COSM3976148 1(breast);1(lung);1(thyroid) . . . . . . . . . . . . . . 0.968 0.546 D 0.335 0.405 B . . . 0.982 0.250 P 1.995 0.543 M 3.79 0.038 T -3.0 0.623 D 0.111 0.120 -0.980 0.350 T 0.009 0.032 T . . . 4.032 0.542 23.7 0.980 0.368 0.055 0.112 N c 0.035 -0.014 0.434 0.204 0.487 0.133 0 4.45 0.532 0.710 0.252 0.928 0.438 0.072 0.219 0.444 0.261 12.773 0.566 . . . 0.1668 0.0337 0.1047 0.2655 0.0177 0.1985 0.2191 0.1823 0.1378 0.1472 0.0361 0.1319 0.2583 0.0179 0.1993 0.2110 0.1694 het 1129.08 78 1 152749091 . C T 1129.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.642;DP=78;Dels=0.00;FS=4.930;HRun=0;HaplotypeScore=3.4375;MQ=59.31;MQ0=0;MQRankSum=0.330;QD=14.48;ReadPosRankSum=-0.590;VQSLOD=4.7975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,41:78:99:1159,0,895 1 152944594 152944594 C T exonic SPRR4 synonymous SNV SPRR4:NM_173080:exon2:c.C228T:p.S76S 0.63 0.83 0.5 0.63 0.57 0.49 0.5686 0.7981 0.4833 0.6712 0.4299 0.5685 0.5177 0.4886 0.64 0.78 0.57 0.72 0.64 rs3170863 COSM3750368 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5595 0.8050 0.4895 0.5732 0.6724 0.4439 0.5717 0.5588 0.4857 0.6167 0.7896 0.5084 0.5563 0.6565 0.4525 0.5633 0.5307 hom 4800.24 160 1 152944594 . C T 4800.24 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.38;MQ0=0;QD=30.00;VQSLOD=7.9391;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4799,394,0 1 152975715 152975715 C T exonic SPRR3 synonymous SNV SPRR3:NM_001097589:exon2:c.C219T:p.G73G,SPRR3:NM_005416:exon3:c.C219T:p.G73G 0.0004 0.0015 . . . . 0.0168 0.0279 0.0094 0.0273 0.0137 0.0155 0.0186 0.0161 . . . . 0.21 rs28989168 COSM1334263 2(urinary_tract);1(kidney);3(liver);1(oesophagus);3(skin);1(prostate);3(thyroid);5(large_intestine);2(central_nervous_system);3(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0001 0.0001 0.0013 0.0001 0.0004 0.0007 0.0014 0.0012 0.0010 0.0046 0 0 0.01 0 0.0004 0 het 426.36 78 1 152975715 . C T 426.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.806;DP=78;Dels=0.00;FS=0.955;HRun=1;HaplotypeScore=2.2772;MQ=57.62;MQ0=0;MQRankSum=1.756;QD=5.47;ReadPosRankSum=-0.037;VQSLOD=2.6755;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,27:78:99:456,0,1407 1 152975763 152975763 C A exonic SPRR3 synonymous SNV SPRR3:NM_001097589:exon2:c.C267A:p.G89G,SPRR3:NM_005416:exon3:c.C267A:p.G89G 0.52 0.5 0.43 0.63 0.53 0.51 0.1596 0.2236 0.0635 0.3024 0.0444 0.1725 0.1677 0.1312 0.54 0.52 0.54 . 0.58 rs1977734 COSM3750370 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4035 0.4141 0.2993 0.4409 0.6081 0.4233 0.3990 0.4090 0.3912 0.5421 0.5438 0.4734 0.5473 0.6588 0.5215 0.5382 0.5285 hom 3803.71 127 1 152975763 . C A 3803.71 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.801;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7987;MQ=57.75;MQ0=0;MQRankSum=3.389;QD=29.95;ReadPosRankSum=0.739;VQSLOD=5.0627;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:4,123:127:99:3803,310,0 1 152975829 152975829 A G exonic SPRR3 synonymous SNV SPRR3:NM_001097589:exon2:c.A333G:p.E111E,SPRR3:NM_005416:exon3:c.A333G:p.E111E 0.53 0.5 0.43 0.63 0.53 0.51 0.5296 0.5195 0.4394 0.6726 0.4944 0.5354 0.5055 0.5168 0.54 0.53 0.54 0.48 0.59 rs1970328 COSM3750371 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4030 0.3960 0.3165 0.4442 0.6121 0.4256 0.3906 0.4241 0.3956 0.5376 0.5134 0.4782 0.5510 0.6607 0.5219 0.5457 0.5324 hom 4430.28 137 1 152975829 . A G 4430.28 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9778;MQ=59.13;MQ0=0;QD=32.34;VQSLOD=8.9304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4430,346,0 1 152975941 152975941 C G exonic SPRR3 nonsynonymous SNV SPRR3:NM_001097589:exon2:c.C445G:p.L149V,SPRR3:NM_005416:exon3:c.C445G:p.L149V 0.58 0.71 0.45 0.63 0.53 0.51 0.5448 0.6860 0.4460 0.6710 0.4950 0.5356 0.5144 0.5176 0.59 0.68 0.54 0.65 0.59 rs1055935 COSM3750372 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.002 0.063 B . . . 1 0.090 P -1.74 0.003 N 3.17 0.076 T 1.57 0.008 N 0.02 0.304 -0.920 0.456 T 0.002 0.006 T . . . -1.781 0.011 0.002 0.070 0.000 0.000 0.002 N c -1.541 -1.492 0.000 0.041 0.487 0.133 0 -0.145 0.127 0.010 0.130 0.016 0.142 0.000 0.063 0.002 0.062 1.562 0.024 . ENSG00000159516.8|ENSG00000234262.1|ENSG00000196805.6|ENSG00000169469.7|ENSG00000244057.2|ENSG00000169469.7|ENSG00000244057.2|ENSG00000196805.6|ENSG00000234262.1 Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.5400 0.6877 0.4529 0.5605 0.6738 0.5050 0.5382 0.5339 0.5139 0.5816 0.6729 0.4844 0.5433 0.6596 0.5209 0.5434 0.5368 hom 2758.97 85 1 152975941 . C G 2758.97 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.78;MQ0=0;QD=32.46;VQSLOD=9.3696;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2792,220,0 1 153004983 153004983 C T exonic SPRR1B synonymous SNV SPRR1B:NM_003125:exon2:c.C162T:p.P54P 0.5 0.44 0.43 0.59 0.52 0.51 0.5094 0.4670 0.4388 0.6320 0.4689 0.5156 0.4877 0.5134 0.51 0.47 0.52 0.54 0.53 rs12195 COSM3750374 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5037 0.4648 0.4403 0.5210 0.6341 0.4708 0.5119 0.5016 0.5082 0.4999 0.4571 0.4712 0.5201 0.6270 0.4914 0.5144 0.4969 hom 6922.69 228 1 153004983 . C T 6922.69 Mask AC=2;AF=1.00;AN=2;DP=228;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9274;MQ=46.15;MQ0=6;QD=30.36;VQSLOD=2.5145;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,227:228:99:6922,569,0 1 153234295 153234295 G A exonic LOR synonymous SNV LOR:NM_000427:exon2:c.G870A:p.G290G 0.19 0.38 0.15 0.069 0.23 0.058 0.2170 0.4258 0.1114 0.1119 0.2920 0.2552 0.2321 0.0741 0.21 0.3 0.17 0.15 0.19 rs12043009 COSM4142719 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1796 0.3804 0.1032 0.1750 0.0851 0.2170 0.2199 0.2050 0.0636 0.2505 0.3848 0.1280 0.1821 0.0994 0.2209 0.2071 0.2090 het 243.48 20 1 153234295 . G A 243.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.350;DP=20;Dels=0.00;FS=12.335;HRun=1;HaplotypeScore=0.0000;MQ=56.45;MQ0=0;MQRankSum=1.119;QD=12.17;ReadPosRankSum=-0.733;VQSLOD=2.3601;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:273,0,216 1 153277423 153277423 C T exonic PGLYRP3 nonsynonymous SNV PGLYRP3:NM_052891:exon3:c.G376A:p.G126S 0.47 0.39 0.46 0.58 0.4 0.55 0.4235 0.3820 0.4984 0.5301 0.3857 0.3792 0.4490 0.5360 0.38 0.38 0.39 0.46 0.34 rs843971 COSM3750376 2(large_intestine) . . . . . . . . . . . 0.134 0.263 T 0.911 0.484 P 0.6 0.489 P 0.000 0.497 D 0.428 0.323 P 1.23 0.308 L 2.6 0.132 T -1.88 0.439 N 0.228 0.280 -1.058 0.121 T 0.022 0.092 T . . . 4.453 0.596 24.2 0.997 0.806 0.825 0.414 D c 0.242 0.231 0.726 0.230 0.549 0.223 0 4.48 0.538 2.546 0.452 0.855 0.374 0.977 0.347 0.905 0.384 12.509 0.552 N-acetylmuramoyl-L-alanine amidase domain|Peptidoglycan recognition protein family domain\x2c metazoa/bacteria ENSG00000159527.3|ENSG00000159527.3|ENSG00000159527.3|ENSG00000229699.1 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.4247 0.3821 0.4870 0.3922 0.5302 0.3815 0.3782 0.4257 0.5284 0.3878 0.3745 0.4928 0.3411 0.5574 0.3749 0.3762 0.3776 het 1293.99 98 1 153277423 . C T 1293.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.879;DP=98;Dels=0.00;FS=2.859;HRun=1;HaplotypeScore=2.6547;MQ=59.19;MQ0=0;MQRankSum=-0.666;QD=13.20;ReadPosRankSum=2.168;VQSLOD=5.5839;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,46:98:99:1324,0,1551 1 153314153 153314153 C A exonic PGLYRP4 nonsynonymous SNV PGLYRP4:NM_020393:exon6:c.G575T:p.G192V 0.84 0.75 0.87 0.91 0.88 0.86 0.8447 0.7666 0.8040 0.8741 0.8902 0.8557 0.8502 0.8439 0.82 0.77 0.85 0.81 0.88 rs3006448 . . . . . . . . . . . . . 0.217 0.191 T 0.0 0.026 B 0.0 0.013 B 0.099 0.199 N 0.842 0.286 P -2.19 0.001 N 3.58 0.046 T 2.68 0.002 N 0.055 0.037 -0.935 0.434 T 0.001 0.004 T . . . 0.153 0.108 4.178 0.084 0.001 0.015 0.050 N c -1.016 -0.815 1.000 0.437 0.487 0.133 0 3.02 0.338 0.997 0.291 -0.244 0.091 0.928 0.320 0.249 0.227 4.553 0.114 N-acetylmuramoyl-L-alanine amidase domain|Peptidoglycan recognition protein family domain\x2c metazoa/bacteria ENSG00000163218.10|ENSG00000163218.10|ENSG00000163218.10|ENSG00000163218.10 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum 0.8445 0.76 0.8107 0.8378 0.8666 0.8910 0.8540 0.8480 0.8448 0.8346 0.7565 0.8517 0.8477 0.8603 0.8841 0.8631 0.8585 hom 7219.38 230 1 153314153 . C A 7219.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=230;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6071;MQ=59.44;MQ0=0;MQRankSum=-0.764;QD=31.39;ReadPosRankSum=0.446;VQSLOD=8.2209;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,228:230:99:7218,587,0 1 153315579 153315579 A G exonic PGLYRP4 synonymous SNV PGLYRP4:NM_020393:exon5:c.T459C:p.F153F 0.93 0.99 0.91 0.91 0.92 0.89 0.9059 0.9774 0.8475 0.8746 0.9090 0.9125 0.9097 0.8904 0.93 0.98 0.91 0.96 0.93 rs3014863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9021 0.9775 0.8539 0.9062 0.8670 0.9084 0.9125 0.9089 0.8921 0.9265 0.9753 0.8914 0.9172 0.8581 0.9030 0.9138 0.9173 hom 3578.56 110 1 153315579 . A G 3578.56 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9916;MQ=57.99;MQ0=0;QD=32.53;VQSLOD=8.5053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3578,310,0 1 153320372 153320372 T G exonic PGLYRP4 nonsynonymous SNV PGLYRP4:NM_020393:exon2:c.A37C:p.I13L 0.79 0.7 0.86 0.74 0.87 0.85 0.8239 0.7291 0.7888 0.7222 0.8745 0.8497 0.8289 0.8355 0.81 0.73 0.85 0.73 0.85 rs3006458 COSM4142720 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.293 N 1 0.090 P -1.935 0.002 N 3.93 0.035 T 0.33 0.039 N 0.032 0.012 -0.962 0.387 T 0.001 0.004 T . . . -0.275 0.070 0.757 0.501 0.043 0.001 0.004 N c -1.408 -1.385 0.394 0.201 0.487 0.133 0 -1.05 0.095 0.186 0.167 0.011 0.139 0.003 0.159 0.105 0.191 2.058 0.033 . ENSG00000163218.10|ENSG00000163218.10|ENSG00000163218.10|ENSG00000163218.10 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum 0.8236 0.7191 0.7944 0.7996 0.7157 0.8752 0.8514 0.8313 0.8355 0.8113 0.7160 0.8218 0.8013 0.7307 0.8625 0.8606 0.8473 hom 1856.46 63 1 153320372 . T G 1856.46 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.04;MQ0=0;QD=29.47;VQSLOD=8.5390;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1889,141,0 1 153410822 153410822 C A exonic S100A7L2 nonsynonymous SNV S100A7L2:NM_001045479:exon2:c.G17T:p.G6V 0.61 0.5 0.71 0.6 0.74 0.59 0.6923 0.5257 0.7495 0.5647 0.8026 0.7362 0.6973 0.6017 0.67 0.53 0.74 0.66 0.69 rs10888561 . . . . . . . . . . . . . 0.015 0.524 D . . . . . . . . . 1 0.217 P . . . 3.36 0.059 T 1.49 0.007 N 0.029 0.010 -0.968 0.376 T 0.013 0.050 T . . . 2.660 0.381 20.6 0.961 0.282 0.003 0.015 N c -0.297 -0.760 0.000 0.029 0.487 0.133 0 -1.48 0.082 -0.314 0.081 -2.280 0.003 0.003 0.159 0.000 0.016 2.972 0.055 EF-hand domain pair ENSG00000188015.5 Esophagus_Mucosa 0.6987 0.5230 0.7464 0.6643 0.5686 0.7998 0.7378 0.6961 0.6033 0.6861 0.5340 0.7303 0.6921 0.5612 0.8028 0.7553 0.7281 het 1233.50 101 1 153410822 . C A 1233.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.566;DP=101;Dels=0.00;FS=4.151;HRun=0;HaplotypeScore=0.9997;MQ=59.15;MQ0=0;MQRankSum=0.794;QD=12.21;ReadPosRankSum=0.311;VQSLOD=5.6722;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,54:101:99:1263,0,1279 1 153431406 153431406 C G exonic S100A7 nonsynonymous SNV S100A7:NM_002963:exon2:c.G84C:p.E28D 0.98 0.99 0.99 1. 0.96 0.99 0.9609 0.9815 0.9794 1 0.9651 0.9441 0.9581 0.9805 0.96 0.99 0.94 0.99 0.95 rs3014837 COSM5003207 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.275 0.007 N 3.5 0.050 T 1.35 0.009 N 0.019 0.004 -0.921 0.454 T 0.002 0.006 T . . . -1.121 0.028 0.009 0.089 0.001 0.000 0.002 N c -1.680 -1.657 0.000 0.071 0.497 0.185 0 -0.422 0.117 0.214 0.172 -1.265 0.014 0.037 0.206 0.004 0.083 9.678 0.390 EF-hand domain pair|S100/CaBP-9k-type\x2c calcium binding\x2c subdomain ENSG00000188015.5|ENSG00000197956.5|ENSG00000263841.1 Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Nerve_Tibial 0.9617 0.9847 0.9772 0.9611 0.9999 0.9647 0.9433 0.9555 0.9780 0.9648 0.9911 0.9749 0.9735 1 0.9636 0.9462 0.9511 hom 6992.26 238 1 153431406 . C G 6992.26 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.474;DP=238;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6201;MQ=57.44;MQ0=0;MQRankSum=1.717;QD=29.38;ReadPosRankSum=0.753;VQSLOD=3.3617;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,232:238:99:6935,572,0 1 154108387 154108387 G A exonic NUP210L synonymous SNV NUP210L:NM_001159484:exon7:c.C912T:p.N304N,NUP210L:NM_207308:exon7:c.C912T:p.N304N 0.97 0.89 0.99 1. 1. 1. 0.9915 0.9018 0.9972 1 1 0.9995 0.9967 0.9999 0.97 0.91 1. 0.92 0.99 rs3001361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9929 0.8974 0.9965 1 1 1 0.9996 0.9974 0.9999 0.9732 0.9065 0.9952 1 1 1 0.9995 0.9969 hom 3204.91 98 1 154108387 . G A 3204.91 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4583;MQ=58.16;MQ0=0;QD=32.70;VQSLOD=8.5467;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3238,262,0 1 154310048 154310048 C G exonic ATP8B2 synonymous SNV ATP8B2:NM_001005855:exon12:c.C1062G:p.L354L 0.43 0.16 0.5 0.62 0.45 0.53 0.4682 0.1995 0.5046 0.6073 0.4155 0.4843 0.4747 0.4950 0.38 0.21 0.47 0.38 0.49 rs1760795 COSM3750389 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4728 0.1932 0.5088 0.5831 0.6069 0.4225 0.4726 0.4861 0.4968 0.3924 0.1987 0.4904 0.61 0.6054 0.4338 0.4605 0.4297 hom 7827.07 224 1 154310048 . C G 7827.07 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2049;MQ=59.41;MQ0=0;QD=34.94;VQSLOD=7.6913;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:7826,617,0 1 154317153 154317153 C T exonic ATP8B2 synonymous SNV ATP8B2:NM_020452:exon21:c.C2277T:p.S759S 0.42 0.12 0.49 0.62 0.45 0.53 0.4645 0.1632 0.5015 0.6057 0.4156 0.4840 0.4725 0.4946 0.37 0.18 0.47 0.38 0.48 rs1194587 COSM3750390 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4697 0.1551 0.5060 0.5824 0.6068 0.4225 0.4722 0.4850 0.4960 0.3824 0.1649 0.4844 0.6093 0.6041 0.4341 0.4600 0.4274 hom 5802.01 179 1 154317153 . C T 5802.01 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.577;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5277;MQ=59.87;MQ0=0;MQRankSum=1.345;QD=32.41;ReadPosRankSum=-0.126;VQSLOD=7.6612;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,178:179:99:5770,423,0 1 154401679 154401679 G A exonic IL6R synonymous SNV IL6R:NM_000565:exon2:c.G93A:p.A31A,IL6R:NM_001206866:exon2:c.G93A:p.A31A,IL6R:NM_181359:exon2:c.G93A:p.A31A 0.12 0.048 0.1 0.1 0.18 0.17 0.1410 0.0609 0.0720 0.1106 0.1645 0.1655 0.1372 0.1483 0.13 0.065 0.16 0.12 0.11 rs2228144 COSM3750392 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1391 0.0602 0.0763 0.1722 0.1128 0.1635 0.1623 0.1489 0.1476 0.1293 0.0654 0.0907 0.1556 0.1043 0.1701 0.1599 0.1527 het 1931.30 163 1 154401679 . G A 1931.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.500;DP=163;Dels=0.00;FS=3.774;HRun=1;HaplotypeScore=6.7520;MQ=58.85;MQ0=0;MQRankSum=0.691;QD=11.85;ReadPosRankSum=1.439;VQSLOD=4.7506;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,77:163:99:1961,0,2133 1 154426970 154426970 A C exonic IL6R nonsynonymous SNV IL6R:NM_000565:exon9:c.A1073C:p.D358A 0.29 0.087 0.54 0.32 0.36 0.3 0.3756 0.1337 0.5677 0.3938 0.3027 0.4011 0.3861 0.3104 0.32 0.15 0.4 0.25 0.4 rs2228145 COSM5505526 1(biliary_tract) other|other Soluble_interleukin-6_receptor\x2c_serum_level_of\x2c_quantitative_trait_locus|Interleukin_6\x2c_serum_level_of\x2c_quantitative_trait_locus RCV000015767.2|RCV000029243.2 MedGen:OMIM|MedGen:OMIM C3553493:614689|C3540094:614752 Rheumatoid arthritis 0.93 . 24390342 rs2228145 5E-6 0.242 0.176 T 0.123 0.252 B 0.02 0.179 B 0.000 0.002 N 0.999 0.474 P . . . 2.34 0.164 T -1.94 0.450 N 0.198 0.417 -0.977 0.358 T 0.117 0.413 T . . . 0.226 0.116 4.955 0.924 0.212 0.423 0.266 N c -0.258 -0.362 1.000 0.451 0.653 0.482 0 2.85 0.322 0.519 0.224 1.199 0.960 0.048 0.211 0.642 0.297 6.5 0.212 . ENSG00000160712.8 Whole_Blood 0.3791 0.1271 0.5490 0.4129 0.3806 0.2896 0.3962 0.3986 0.3069 0.3044 0.1364 0.5228 0.45 0.3780 0.2971 0.3790 0.3347 het 735.50 49 1 154426970 . A C 735.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.518;DP=49;Dels=0.00;FS=1.342;HRun=0;HaplotypeScore=0.9933;MQ=59.24;MQ0=0;MQRankSum=0.090;QD=15.01;ReadPosRankSum=0.831;VQSLOD=6.6243;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,26:49:99:765,0,571 1 154474131 154474131 C G exonic SHE synonymous SNV SHE:NM_001010846:exon1:c.G372C:p.R124R 0.78 0.56 0.88 0.91 0.82 0.81 0.8280 0.6084 0.9121 0.9128 0.8375 0.8322 0.8531 0.8381 0.76 0.62 0.83 0.72 0.82 rs4845635 COSM3750395 1(breast);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8364 0.6045 0.9081 0.8329 0.9115 0.8380 0.8345 0.8355 0.8373 0.7802 0.6171 0.8950 0.8477 0.9172 0.8303 0.8374 0.8330 het 388.56 38 1 154474131 . C G 388.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.555;DP=38;Dels=0.00;FS=2.928;HRun=0;HaplotypeScore=0.9332;MQ=57.89;MQ0=0;MQRankSum=0.526;QD=10.23;ReadPosRankSum=-0.671;VQSLOD=4.3925;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,19:38:99:419,0,477 1 154516477 154516477 G A exonic TDRD10 nonsynonymous SNV TDRD10:NM_001098475:exon9:c.G542A:p.R181Q,TDRD10:NM_182499:exon9:c.G542A:p.R181Q 0.13 0.014 0.25 0.031 0.31 0.13 0.2324 0.0487 0.2446 0.0225 0.2977 0.3011 0.2544 0.1444 0.22 0.061 0.31 0.13 0.3 rs12750774 COSM146636 1(stomach) . . . . . . . . . . . 0.345 0.157 T 0.29 0.306 B 0.015 0.179 B 0.570 0.112 N 1 0.090 P 0.345 0.112 N 1.97 0.225 T -0.4 0.138 N 0.017 0.003 -0.976 0.359 T 0.010 0.036 T . . . 0.133 0.107 3.967 0.914 0.201 0.010 0.038 N c -1.241 -1.306 0.370 0.199 0.560 0.301 0 -1.63 0.079 -0.462 0.067 -1.173 0.016 0.018 0.193 0.016 0.126 8.531 0.323 . . . 0.2365 0.0477 0.2436 0.2449 0.0208 0.2969 0.3053 0.2611 0.1434 0.2134 0.0577 0.2673 0.2616 0.0173 0.2911 0.3003 0.2577 het 2231.83 210 1 154516477 . G A 2231.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.688;DP=210;DS;Dels=0.00;FS=0.539;HRun=1;HaplotypeScore=7.3324;MQ=59.05;MQ0=0;MQRankSum=0.305;QD=10.63;ReadPosRankSum=-0.555;VQSLOD=4.7925;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,87:210:99:2262,0,3273 1 154516571 154516571 T C exonic TDRD10 synonymous SNV TDRD10:NM_001098475:exon9:c.T636C:p.A212A,TDRD10:NM_182499:exon9:c.T636C:p.A212A 0.9 0.64 0.98 1. 1. 1. 0.9728 0.7049 0.9864 1 0.9998 0.9993 0.9835 0.9993 0.9 0.72 1. 0.88 0.99 rs6678164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9786 0.7012 0.9849 0.9998 0.9999 0.9998 0.9992 0.9872 0.9993 0.9212 0.7236 0.9893 1 1 1 0.9993 0.9888 hom 3678.15 109 1 154516571 . T C 3678.15 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=59.40;MQ0=0;QD=33.74;VQSLOD=9.2759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3678,289,0 1 154573967 154573967 T C exonic ADAR nonsynonymous SNV ADAR:NM_001025107:exon2:c.A266G:p.K89R,ADAR:NM_001111:exon2:c.A1151G:p.K384R,ADAR:NM_001193495:exon2:c.A266G:p.K89R,ADAR:NM_015840:exon2:c.A1151G:p.K384R,ADAR:NM_015841:exon2:c.A1151G:p.K384R 0.62 0.37 0.76 0.67 0.67 0.77 0.6956 0.4141 0.8305 0.7166 0.6630 0.7022 0.6542 0.7564 0.61 0.43 0.7 0.58 0.63 rs2229857 . . Benign|Benign not_specified|Symmetrical_dyschromatosis_of_extremities RCV000175658.2|RCV000380536.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0406775:127400:ORPHA41:239085000 . . . . . . 0.381 0.113 T 0.0 0.067 B 0.001 0.040 B 0.020 0.015 N 1 0.090 P 2.015 0.552 M 2.73 0.143 T -0.07 0.080 N 0.019 0.005 -0.976 0.359 T 0.009 0.032 T . . . -1.245 0.024 0.005 0.942 0.238 0.126 0.172 N c -1.078 -1.131 0.999 0.395 0.707 0.730 0 -0.812 0.103 -0.324 0.080 0.088 0.194 0.000 0.063 0.003 0.074 4.899 0.130 . ENSG00000160710.11|ENSG00000160716.4 Whole_Blood|Whole_Blood 0.7035 0.4082 0.8181 0.7106 0.7117 0.6574 0.7028 0.7006 0.7548 0.6279 0.4283 0.7673 0.6689 0.7093 0.6791 0.7098 0.6994 hom 8380.60 246 1 154573967 . T C 8380.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5519;MQ=59.49;MQ0=0;MQRankSum=-1.718;QD=34.07;ReadPosRankSum=0.296;VQSLOD=8.8283;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,245:246:99:8380,656,0 1 154574820 154574820 T C exonic ADAR nonsynonymous SNV ADAR:NM_001111:exon2:c.A298G:p.R100G,ADAR:NM_015840:exon2:c.A298G:p.R100G,ADAR:NM_015841:exon2:c.A298G:p.R100G 1. 0.99 1. 1. 1. 1. 0.9988 0.9870 0.9994 1 1 1.0000 0.9967 0.9999 1. 0.99 1. 1. 0.99 rs1466731 . . . . . . . . . . . . . 0.807 0.033 T 0.0 0.026 B 0.0 0.013 B 0.002 0.008 N 1 0.090 P -0.205 0.041 N 2.45 0.150 T -0.17 0.096 N 0.036 0.078 -1.015 0.255 T 0.009 0.034 T . . . -1.562 0.015 0.002 0.109 0.001 0.055 0.112 N c -1.551 -1.620 1.000 0.747 0.646 0.442 0 -2.82 0.054 -1.232 0.030 -0.439 0.057 0.000 0.063 0.000 0.016 2.295 0.039 . . . 0.9989 0.9852 0.9990 1 1 1 1.0000 0.9993 0.9999 0.9969 0.9892 0.9988 1 1 1 1 0.9980 hom 2590.92 82 1 154574820 . T C 2590.92 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.26;MQ0=0;QD=31.60;VQSLOD=8.8539;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2624,217,0 1 154575040 154575040 C T exonic ADAR synonymous SNV ADAR:NM_001111:exon2:c.G78A:p.R26R,ADAR:NM_015840:exon2:c.G78A:p.R26R,ADAR:NM_015841:exon2:c.G78A:p.R26R 1. 0.99 1. 1. 1. 1. 0.9992 0.9909 0.9996 1 1 1.0000 0.9989 0.9999 1. 0.99 1. 1. . rs1802645 . . Benign|Benign not_specified|Symmetrical_dyschromatosis_of_extremities RCV000245017.1|RCV000293981.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0406775:127400:ORPHA41:239085000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9992 0.9898 0.9992 1 1 1 1 0.9996 0.9999 0.9978 0.9924 0.9988 1 1 1 1 1 hom 3695.07 122 1 154575040 . C T 3695.07 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.12;MQ0=0;QD=30.29;VQSLOD=8.6155;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3694,295,0 1 154744807 154744807 C G exonic KCNN3 synonymous SNV KCNN3:NM_001204087:exon3:c.G1092C:p.L364L,KCNN3:NM_002249:exon3:c.G1092C:p.L364L,KCNN3:NM_170782:exon3:c.G177C:p.L59L 0.54 0.45 0.46 0.52 0.63 0.63 0.5813 0.4978 0.4785 0.5098 0.6034 0.6013 0.58 0.6533 0.58 0.52 0.61 0.54 0.53 rs1051614 COSM4142768;COSM4142769 1(thyroid) Benign not_specified RCV000455667.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5813 0.4902 0.4911 0.6684 0.5143 0.6061 0.5980 0.5793 0.6565 0.5631 0.4888 0.5203 0.6093 0.5160 0.6045 0.6008 0.6018 hom 2304.24 73 1 154744807 . C G 2304.24 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.1766;MQ=58.53;MQ0=0;QD=31.56;VQSLOD=9.2703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2337,187,0 1 154744852 154744852 A G exonic KCNN3 synonymous SNV KCNN3:NM_001204087:exon3:c.T1047C:p.N349N,KCNN3:NM_002249:exon3:c.T1047C:p.N349N,KCNN3:NM_170782:exon3:c.T132C:p.N44N 0.78 0.59 0.84 0.98 0.74 0.81 0.7616 0.6225 0.8859 0.9863 0.6941 0.7218 0.7679 0.8302 0.71 0.64 0.74 0.75 0.73 rs1131820 COSM4142771;COSM4142770 1(thyroid) Benign not_specified RCV000454551.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7683 0.6143 0.8786 0.7550 0.9862 0.6931 0.7216 0.7457 0.8329 0.7029 0.6181 0.8341 0.7053 0.9846 0.6840 0.7174 0.7240 hom 1949.85 65 1 154744852 . A G 1949.85 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8583;MQ=59.07;MQ0=0;QD=30.00;VQSLOD=9.2894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1983,165,0 1 154904840 154904840 T C exonic PMVK nonsynonymous SNV PMVK:NM_001348696:exon2:c.A41G:p.N14S 0.21 0.64 0.084 . 0.064 0.069 0.1086 0.5880 0.0530 0.0008 0.0605 0.0711 0.0993 0.0714 0.24 0.57 0.065 0.3 0.082 rs1891805 COSM3750396 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0940 0.5972 0.0568 0.0649 0.0008 0.0575 0.0687 0.0817 0.0683 0.2059 0.5875 0.0612 0.0596 0 0.0510 0.0616 0.0828 het 753.96 84 1 154904840 . T C 753.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.233;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.56;MQ0=0;MQRankSum=-1.217;QD=8.98;ReadPosRankSum=-0.770;VQSLOD=6.0020;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,34:84:99:784,0,1336 1 154919080 154919080 C T exonic PBXIP1 nonsynonymous SNV PBXIP1:NM_001317735:exon7:c.G605A:p.G202D,PBXIP1:NM_001317734:exon9:c.G983A:p.G328D,PBXIP1:NM_020524:exon10:c.G1070A:p.G357D 0.52 0.15 0.63 0.9 0.43 0.62 0.4977 0.1921 0.6786 0.8854 0.4382 0.4363 0.5122 0.6284 0.36 0.2 0.43 0.5 0.38 rs2061690 COSM3747565 2(liver) . . . . . . . . . . . 0.192 0.210 T 0.087 0.234 B 0.063 0.256 B 0.002 0.368 N 1 0.090 P 1.61 0.413 L 2.61 0.131 T -1.2 0.305 N 0.057 0.078 -0.965 0.382 T 0.009 0.033 T . . . 0.660 0.157 8.561 0.927 0.216 0.062 0.120 N c -0.797 -0.791 0.927 0.268 0.732 0.924 0 3.57 0.399 0.318 0.191 0.007 0.138 0.000 0.063 0.007 0.100 6.933 0.235 . ENSG00000163346.12|ENSG00000232093.1|ENSG00000163346.12|ENSG00000143603.14|ENSG00000143603.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Nerve_Tibial|Nerve_Tibial|Pituitary 0.5077 0.1884 0.6572 0.5083 0.8809 0.4354 0.4313 0.4934 0.6243 0.3847 0.1948 0.5983 0.4503 0.8660 0.4433 0.4136 0.4265 hom 2709.12 90 1 154919080 . C T 2709.12 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=30.10;VQSLOD=8.7924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2742,226,0 1 154938235 154938235 G C exonic SHC1 synonymous SNV SHC1:NM_001130040:exon11:c.C1410G:p.R470R,SHC1:NM_183001:exon11:c.C1407G:p.R469R,SHC1:NM_001130041:exon12:c.C1077G:p.R359R,SHC1:NM_001202859:exon12:c.C942G:p.R314R,SHC1:NM_003029:exon12:c.C1080G:p.R360R 0.16 0.51 0.058 0.002 0.028 0.055 0.0756 0.4746 0.0377 0.0028 0.0225 0.0407 0.0576 0.0587 0.18 0.45 0.035 0.24 0.033 rs1131397 COSM3750397;COSM3750399;COSM3750398 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0651 0.4820 0.0388 0.0371 0.0026 0.0219 0.0396 0.0523 0.0573 0.1562 0.4729 0.0407 0.0397 0.0037 0.0195 0.0355 0.0601 het 1278.20 84 1 154938235 . G C 1278.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.110;DP=84;Dels=0.00;FS=1.941;HRun=1;HaplotypeScore=3.4468;MQ=59.20;MQ0=0;MQRankSum=1.934;QD=15.22;ReadPosRankSum=-1.796;VQSLOD=4.4744;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,48:84:99:1308,0,943 1 154938662 154938662 T C exonic SHC1 nonsynonymous SNV SHC1:NM_001130040:exon9:c.A1228G:p.M410V,SHC1:NM_183001:exon9:c.A1228G:p.M410V,SHC1:NM_001130041:exon10:c.A898G:p.M300V,SHC1:NM_001202859:exon10:c.A763G:p.M255V,SHC1:NM_003029:exon10:c.A898G:p.M300V 0.06 0.15 0.029 0.002 0.028 0.055 0.0455 0.1387 0.0235 0.0028 0.0226 0.0398 0.0410 0.0566 0.069 0.14 0.035 0.065 0.016 rs8191979 COSM3750401;COSM3750402;COSM3750400 1(large_intestine) . . . . . . . . . . . 0.62 0.073 T 0.01 0.144 B 0.001 0.040 B 0.404 0.131 N 0.559 0.313 P 0.66 0.163 N 0.84 0.475 T -0.02 0.093 N 0.089 0.112 -1.022 0.230 T 0.026 0.110 T . . . -0.199 0.076 1.102 0.624 0.068 0.814 0.405 D c -0.728 -0.560 0.989 0.317 0.722 0.854 0 1.82 0.241 0.269 0.182 0.118 0.209 1.000 0.715 0.993 0.574 6.568 0.216 PH domain-like|PTB/PI domain|Phosphotyrosine interaction domain\x2c Shc-like ENSG00000160691.14 Whole_Blood 0.0413 0.1409 0.0244 0.0369 0.0026 0.0219 0.0388 0.0427 0.0563 0.0597 0.1343 0.0274 0.0397 0.0037 0.0195 0.0349 0.0439 het 484.41 49 1 154938662 . T C 484.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.340;DP=49;Dels=0.00;FS=1.303;HRun=1;HaplotypeScore=0.8941;MQ=59.02;MQ0=0;MQRankSum=0.154;QD=9.89;ReadPosRankSum=1.159;VQSLOD=6.4497;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,19:49:99:514,0,804 1 154987526 154987526 C T exonic ZBTB7B synonymous SNV ZBTB7B:NM_001256455:exon2:c.C390T:p.I130I,ZBTB7B:NM_001252406:exon4:c.C492T:p.I164I 0.62 0.46 0.67 0.91 0.45 0.67 0.5275 0.4696 0.6975 0.8965 0.4468 0.4350 0.5278 0.6526 0.44 0.47 0.42 0.46 0.45 rs11264295 COSM424019;COSM5619081 2(breast);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5324 0.4688 0.6757 0.5415 0.8990 0.4463 0.4256 0.5099 0.6514 0.4786 0.4775 0.6325 0.4933 0.8950 0.4722 0.4280 0.4601 het 1205.38 88 1 154987526 . C T 1205.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.184;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8897;MQ=57.66;MQ0=0;MQRankSum=1.151;QD=13.70;ReadPosRankSum=0.672;VQSLOD=4.9485;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,49:88:99:1235,0,1023 1 154988957 154988957 A G exonic ZBTB7B synonymous SNV ZBTB7B:NM_001256455:exon3:c.A1416G:p.P472P,ZBTB7B:NM_001252406:exon5:c.A1518G:p.P506P 0.67 0.48 0.75 0.91 0.58 0.73 0.6192 0.5016 0.7652 0.8998 0.5485 0.5605 0.6264 0.7084 0.54 0.51 0.56 0.62 0.51 rs2242195 COSM5033578 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6272 0.5027 0.7451 0.6751 0.9031 0.5511 0.5540 0.6261 0.7106 0.5620 0.5108 0.7069 0.6467 0.8984 0.5777 0.5415 0.5645 het 888.98 73 1 154988957 . A G 888.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.061;DP=73;Dels=0.00;FS=3.261;HRun=0;HaplotypeScore=5.6220;MQ=59.37;MQ0=0;MQRankSum=-0.988;QD=12.18;ReadPosRankSum=-0.303;VQSLOD=4.0028;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:37,36:73:99:919,0,972 1 155006091 155006091 A G exonic DCST2 synonymous SNV DCST2:NM_144622:exon1:c.T87C:p.G29G 0.6 0.54 0.61 0.88 0.36 0.63 0.4681 0.5310 0.6440 0.8607 0.4094 0.3528 0.4613 0.5887 0.41 0.53 0.35 0.54 0.42 rs10908453 COSM3747566 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4730 0.5354 0.6254 0.4088 0.8629 0.4082 0.3470 0.4288 0.5892 0.4547 0.5341 0.5671 0.3907 0.8589 0.4392 0.3653 0.4235 het 991.56 83 1 155006091 . A G 991.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.487;DP=83;Dels=0.00;FS=0.860;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=0.060;QD=11.95;ReadPosRankSum=-0.609;VQSLOD=6.5361;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,38:83:99:1022,0,1127 1 155006999 155006999 C T exonic DCST1 synonymous SNV DCST1:NM_001143687:exon3:c.C150T:p.L50L,DCST1:NM_152494:exon3:c.C150T:p.L50L 0.57 0.43 0.59 0.88 0.36 0.62 0.4552 0.4229 0.6353 0.8613 0.4085 0.3491 0.4536 0.5836 0.37 0.43 0.34 0.51 0.39 rs6680600 COSM5619082;COSM5619083 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4627 0.4239 0.6174 0.3970 0.8640 0.4074 0.3445 0.4208 0.5843 0.4213 0.4257 0.5671 0.3833 0.8578 0.4368 0.3612 0.4129 het 2026.81 139 1 155006999 . C T 2026.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.078;DP=139;Dels=0.00;FS=1.379;HRun=1;HaplotypeScore=2.1010;MQ=59.83;MQ0=0;MQRankSum=-0.806;QD=14.58;ReadPosRankSum=-0.319;VQSLOD=6.4115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,76:139:99:2057,0,1771 1 155019710 155019710 A C exonic DCST1 nonsynonymous SNV DCST1:NM_001143687:exon13:c.A1459C:p.M487L,DCST1:NM_152494:exon14:c.A1534C:p.M512L 0.55 0.39 0.59 0.88 0.36 0.62 0.4524 0.3929 0.6335 0.8688 0.4094 0.3485 0.4426 0.5821 0.37 0.41 0.35 0.53 0.4 rs11264300 COSM1559945;COSM4997869 1(breast);1(pancreas) . . . . . . . . . . . 0.054 0.416 T 0.016 0.161 B 0.022 0.184 B 0.000 0.513 N 0.852 0.285 P 1.67 0.430 L 1.62 0.282 T -1.12 0.289 N 0.103 0.117 -1.017 0.246 T 0.017 0.068 T . . . 1.784 0.275 14.89 0.885 0.174 0.795 0.391 D c -0.459 -0.303 1.000 0.415 0.554 0.283 0 3.73 0.418 3.112 0.498 1.199 0.960 1.000 0.715 0.941 0.415 8.753 0.336 Dendritic cell-specific transmembrane protein-like ENSG00000232093.1|ENSG00000163354.10|ENSG00000163354.10|ENSG00000163354.10|ENSG00000163354.10|ENSG00000163354.10|ENSG00000232093.1|ENSG00000232093.1|ENSG00000232093.1|ENSG00000143603.14|ENSG00000232093.1|ENSG00000232093.1|ENSG00000232093.1|ENSG00000232093.1 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.4606 0.3933 0.6150 0.3990 0.8686 0.4086 0.3444 0.4167 0.5843 0.4140 0.3962 0.5588 0.3808 0.8616 0.4395 0.3625 0.4160 het 1991.53 150 1 155019710 . A C 1991.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.057;DP=150;Dels=0.00;FS=7.238;HRun=2;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.910;QD=13.28;ReadPosRankSum=-1.335;VQSLOD=4.5424;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,70:150:99:2022,0,2077 1 155026942 155026942 A C exonic ADAM15 nonsynonymous SNV ADAM15:NM_001261464:exon6:c.A602C:p.K201T,ADAM15:NM_001261465:exon6:c.A572C:p.K191T,ADAM15:NM_001261466:exon6:c.A524C:p.K175T,ADAM15:NM_003815:exon6:c.A572C:p.K191T,ADAM15:NM_207191:exon6:c.A572C:p.K191T,ADAM15:NM_207194:exon6:c.A572C:p.K191T,ADAM15:NM_207195:exon6:c.A572C:p.K191T,ADAM15:NM_207196:exon6:c.A572C:p.K191T,ADAM15:NM_207197:exon6:c.A572C:p.K191T 0.9 0.87 0.93 0.99 0.84 0.9 0.8881 0.8993 0.9341 0.9919 0.8854 0.8656 0.8573 0.8876 0.87 0.9 0.86 0.9 0.81 rs6427128 . . . . . . . . . . . . . 0.762 0.035 T 0.0 0.026 B 0.001 0.040 B 0.465 0.123 N 1 0.090 P 0 0.065 N 5.66 0.010 T 1.09 0.013 N 0.049 0.044 -1.055 0.130 T 0.001 0.002 T . . . -0.866 0.037 0.031 0.575 0.057 0.002 0.011 N c -1.262 -1.193 1.000 0.448 0.707 0.730 0 3.24 0.361 0.039 0.137 0.067 0.174 0.000 0.063 0.016 0.126 4.377 0.106 . ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10 Adipose_Visceral_Omentum|Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Thyroid 0.8884 0.8987 0.9350 0.7937 0.9913 0.8906 0.8666 0.8747 0.8845 0.8858 0.8985 0.9057 0.8255 0.9889 0.8751 0.8705 0.8755 hom 3349.27 116 1 155026942 . A C 3349.27 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7035;MQ=58.83;MQ0=0;QD=28.87;VQSLOD=8.5085;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3348,283,0 1 155030557 155030557 A C exonic ADAM15 synonymous SNV ADAM15:NM_001261464:exon14:c.A1677C:p.T559T,ADAM15:NM_001261465:exon14:c.A1647C:p.T549T,ADAM15:NM_001261466:exon14:c.A1599C:p.T533T,ADAM15:NM_003815:exon14:c.A1647C:p.T549T,ADAM15:NM_207191:exon14:c.A1647C:p.T549T,ADAM15:NM_207194:exon14:c.A1647C:p.T549T,ADAM15:NM_207195:exon14:c.A1647C:p.T549T,ADAM15:NM_207196:exon14:c.A1647C:p.T549T,ADAM15:NM_207197:exon14:c.A1647C:p.T549T 0.32 0.45 0.31 0.0069 0.52 0.29 0.4216 0.4756 0.2194 0.0058 0.4932 0.5240 0.4229 0.3048 0.51 0.48 0.53 0.39 0.45 rs11264303 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4132 0.4739 0.2412 0.4303 0.0034 0.4946 0.5301 0.4454 0.3064 0.4719 0.4749 0.3019 0.4603 0.0031 0.4837 0.5280 0.4724 het 1122.23 107 1 155030557 . A C 1122.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.620;DP=107;Dels=0.00;FS=7.849;HRun=1;HaplotypeScore=2.9429;MQ=59.65;MQ0=0;MQRankSum=0.157;QD=10.49;ReadPosRankSum=0.356;VQSLOD=4.7830;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,45:107:99:1152,0,1675 1 155033308 155033308 G A exonic ADAM15 synonymous SNV ADAM15:NM_001261464:exon19:c.G2307A:p.K769K,ADAM15:NM_003815:exon19:c.G2277A:p.K759K,ADAM15:NM_207194:exon19:c.G2277A:p.K759K,ADAM15:NM_207195:exon19:c.G2277A:p.K759K,ADAM15:NM_207196:exon19:c.G2277A:p.K759K,ADAM15:NM_207197:exon19:c.G2277A:p.K759K 0.075 0.0045 0.095 0.0089 0.18 0.11 0.1291 0.0247 0.0783 0.0088 0.1385 0.1709 0.1585 0.1187 0.12 0.032 0.17 0.054 0.11 rs11589479 COSM3750403 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1298 0.0211 0.0807 0.2684 0.0087 0.1335 0.1667 0.1516 0.1212 0.1122 0.0268 0.1146 0.2649 0.0117 0.1450 0.1595 0.1527 het 769.47 56 1 155033308 . G A 769.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.974;DP=56;Dels=0.00;FS=2.619;HRun=2;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=1.057;QD=13.74;ReadPosRankSum=1.139;VQSLOD=5.2681;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,28:56:99:799,0,781 1 155106227 155106227 A T exonic EFNA1 nonsynonymous SNV EFNA1:NM_182685:exon3:c.A410T:p.D137V,EFNA1:NM_004428:exon4:c.A476T:p.D159V 0.32 0.15 0.31 0.2 0.52 0.47 0.4485 0.1689 0.3161 0.1961 0.5124 0.5357 0.4714 0.4704 0.41 0.17 0.53 0.23 0.47 rs4745 COSM3750404 1(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.633 0.134 T 0.0 0.026 B 0.0 0.013 B 0.988 0.080 N 0.006 0.420 P 0 0.065 N -3.2 0.932 D 0.67 0.023 N 0.067 0.054 -0.901 0.479 T 0.262 0.634 T . . . 0.566 0.148 7.916 0.935 0.227 0.076 0.134 N c -1.116 -0.999 1.000 0.747 0.722 0.854 0 -0.259 0.123 -0.349 0.077 -0.767 0.034 0.000 0.063 0.982 0.498 3.636 0.076 Cupredoxin|Ephrin receptor-binding domain ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169242.7|ENSG00000169242.7|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169241.13|ENSG00000160803.7|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169242.7|ENSG00000169231.9|ENSG00000177628.11|ENSG00000185499.12|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000143630.5|ENSG00000160766.10|ENSG00000160766.10|ENSG00000231064.1|ENSG00000271380.1|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000169231.9|ENSG00000231064.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4490 0.1614 0.3253 0.5831 0.1999 0.5101 0.5322 0.4814 0.4714 0.4086 0.1695 0.3759 0.5530 0.1986 0.5212 0.5370 0.5061 het 1797.71 215 1 155106227 . A T 1797.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.042;DP=215;Dels=0.00;FS=1.120;HRun=0;HaplotypeScore=4.4567;MQ=58.86;MQ0=0;MQRankSum=2.739;QD=8.36;ReadPosRankSum=-0.153;VQSLOD=4.6863;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:135,80:215:99:1828,0,3392 1 155149718 155149718 G A exonic TRIM46 synonymous SNV TRIM46:NM_001282378:exon4:c.G483A:p.T161T,TRIM46:NM_001256599:exon5:c.G792A:p.T264T,TRIM46:NM_001256601:exon5:c.G822A:p.T274T,TRIM46:NM_001282379:exon5:c.G861A:p.T287T,TRIM46:NM_025058:exon5:c.G861A:p.T287T,TRIM46:NM_001256600:exon6:c.G822A:p.T274T 0.45 0.22 0.57 0.76 0.36 0.43 0.4216 0.2764 0.6191 0.7685 0.4578 0.3552 0.4117 0.4473 0.33 0.27 0.36 0.43 0.36 rs3814316 COSM5827523;COSM1334562 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4329 0.2745 0.6011 0.2807 0.7660 0.4608 0.3582 0.4078 0.4456 0.3727 0.2755 0.5525 0.3188 0.7528 0.4535 0.3597 0.3868 het 2787.06 230 1 155149718 . G A 2787.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.047;DP=230;DS;Dels=0.00;FS=1.044;HRun=0;HaplotypeScore=7.2234;MQ=59.54;MQ0=0;MQRankSum=0.482;QD=12.12;ReadPosRankSum=-0.779;VQSLOD=4.7279;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,103:230:99:2817,0,3516 1 155162067 155162067 C T exonic MUC1 synonymous SNV MUC1:NM_001018016:exon2:c.G93A:p.T31T,MUC1:NM_001018017:exon2:c.G66A:p.T22T,MUC1:NM_001044390:exon2:c.G66A:p.T22T,MUC1:NM_001044391:exon2:c.G66A:p.T22T,MUC1:NM_001044392:exon2:c.G93A:p.T31T,MUC1:NM_001044393:exon2:c.G66A:p.T22T,MUC1:NM_001204285:exon2:c.G66A:p.T22T,MUC1:NM_001204286:exon2:c.G93A:p.T31T,MUC1:NM_001204287:exon2:c.G93A:p.T31T,MUC1:NM_001204288:exon2:c.G93A:p.T31T,MUC1:NM_001204289:exon2:c.G93A:p.T31T,MUC1:NM_001204291:exon2:c.G93A:p.T31T,MUC1:NM_001204292:exon2:c.G93A:p.T31T,MUC1:NM_001204293:exon2:c.G66A:p.T22T,MUC1:NM_001204294:exon2:c.G66A:p.T22T,MUC1:NM_001204295:exon2:c.G93A:p.T31T,MUC1:NM_001204296:exon2:c.G93A:p.T31T,MUC1:NM_001204297:exon2:c.G93A:p.T31T,MUC1:NM_002456:exon2:c.G66A:p.T22T 0.63 0.6 0.71 0.76 0.55 0.55 0.5790 0.6437 0.7142 0.7838 0.5578 0.5273 0.5576 0.5538 0.57 0.64 0.54 0.71 0.56 rs4072037 COSM5827531;COSM3750408;COSM3750407;COSM3750406;COSM5019082 18(soft_tissue);1(large_intestine) . . . . . Magnesium levels . -0.01 20700443 rs4072037 2E-36 . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . 1.284 0.219 12.19 0.526 0.047 0.000 0.004 N n 0.860 5.293 1.000 0.517 0.696 0.567 0 0.296 0.149 0.030 0.135 -0.508 0.051 0.002 0.151 0.001 0.043 4.494 0.112 . ENSG00000160766.10|ENSG00000231064.1|ENSG00000160766.10|ENSG00000177628.11|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169242.7|ENSG00000169231.9|ENSG00000169242.7|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000231064.1|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000177628.11|ENSG00000231064.1|ENSG00000185499.12|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000169231.9|ENSG00000160766.10|ENSG00000143630.5|ENSG00000177628.11|ENSG00000160766.10|ENSG00000169231.9|ENSG00000160766.10|ENSG00000160766.10|ENSG00000231064.1|ENSG00000169231.9|ENSG00000160767.16|ENSG00000231064.1|ENSG00000160766.10|ENSG00000160766.10|ENSG00000169231.9|ENSG00000160766.10|ENSG00000169231.9|ENSG00000169231.9|ENSG00000185499.12|ENSG00000160766.10|ENSG00000169231.9|ENSG00000160767.16|ENSG00000177628.11|ENSG00000231064.1|ENSG00000160766.10|ENSG00000169231.9|ENSG00000236263.1|ENSG00000231064.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.5845 0.6525 0.7069 0.5166 0.7815 0.5622 0.5282 0.5626 0.5521 0.5766 0.6468 0.6659 0.5364 0.7738 0.5480 0.5206 0.5204 het 1803.01 156 1 155162067 . C T 1803.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.931;DP=156;Dels=0.00;FS=5.035;HRun=0;HaplotypeScore=3.2241;MQ=59.37;MQ0=0;MQRankSum=0.154;QD=11.56;ReadPosRankSum=-0.216;VQSLOD=5.6609;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,70:156:99:1833,0,2148 1 155178782 155178782 A T exonic MTX1 nonsynonymous SNV MTX1:NM_002455:exon1:c.A187T:p.T63S,MTX1:NM_198883:exon1:c.A187T:p.T63S 0.67 0.63 0.76 0.77 0.61 0.6 0.6688 0.6992 0.8349 0.8142 0.6724 0.6239 0.6744 0.6285 0.63 0.68 0.61 0.22 0.43 rs760077 COSM3749002 2(thyroid);14(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6506 0.6836 0.8064 0.5522 0.7958 0.6307 0.5942 0.6264 0.6100 0.6272 0.6718 0.7536 0.5695 0.7850 0.6117 0.5837 0.5988 het 96.51 20 1 155178782 . A T 96.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.501;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-0.579;QD=4.83;ReadPosRankSum=-1.119;VQSLOD=4.3640;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,8:20:99:127,0,255 1 155206037 155206037 G A exonic GBA nonsynonymous SNV GBA:NM_001171811:exon7:c.C962T:p.T321M,GBA:NM_001171812:exon7:c.C1076T:p.T359M,GBA:NM_000157:exon8:c.C1223T:p.T408M,GBA:NM_001005741:exon9:c.C1223T:p.T408M,GBA:NM_001005742:exon9:c.C1223T:p.T408M 0.0018 . 0.0029 . 0.006 0.001 0.0066 0.0007 0.0026 0.0001 0.0102 0.0098 0.0081 0.0019 0.0052 0.0011 0.0072 . . rs75548401 . . Likely benign|Benign|Uncertain significance not_provided|not_specified|Parkinson_disease\x2c_late-onset RCV000079335.6|RCV000244995.2|RCV000416597.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN221809|CN169374|C3160718:168600:49049000 . . . . . . 0.105 0.305 T 0.072 0.302 B 0.026 0.301 B 0.006 0.322 N 0.596 0.310 N 2.05 0.567 M -5.71 0.993 D -1.22 0.309 N 0.742 0.765 0.902 0.957 D 0.879 0.960 D . . . 2.993 0.420 22.2 0.966 0.297 0.933 0.576 D c -0.130 -0.042 0.827 0.246 0.707 0.730 0 3.57 0.399 1.870 0.389 0.914 0.427 1.000 0.715 0.877 0.367 10.786 0.454 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.0060 0.0008 0.0025 0.0022 0 0.0096 0.0091 0.0073 0.0025 0.0076 0.0006 0.0060 0.0033 0 0.0109 0.0114 0.0153 het 447.28 38 1 155206037 . G A 447.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.385;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.87;MQ0=0;MQRankSum=-0.258;QD=11.77;ReadPosRankSum=-0.866;VQSLOD=6.1293;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,18:38:99:477,0,514 1 155260382 155260382 C T exonic PKLR nonsynonymous SNV PKLR:NM_000298:exon11:c.G1706A:p.R569Q,PKLR:NM_181871:exon11:c.G1613A:p.R538Q 0.0006 . . . 0.003 . 0.0010 0 0.0005 0 0.0003 0.0017 0 0 0.0011 . 0.0016 . . rs61755431 . . . . . . . . . . . . . 0.048 0.408 D 0.982 0.581 D 0.428 0.435 B 0.000 0.559 D 1.000 0.588 D 2.11 0.588 M -5.52 0.992 D -3.43 0.673 D 0.714 0.744 0.903 0.957 D 0.897 0.966 D 0.147 0.830 D 7.103 0.942 33 0.999 0.987 0.950 0.628 D c 0.430 0.438 1.000 0.489 0.648 0.455 0 4.54 0.551 4.966 0.632 0.850 0.350 1.000 0.715 0.966 0.452 8.703 0.333 Pyruvate kinase\x2c C-terminal|Pyruvate kinase\x2c alpha/beta . . 0.0010 0.0003 0.0006 0 0 0.0001 0.0020 0.0009 0 0.0011 0.0001 0.0012 0 0 0 0.0022 0 het 1117.81 77 1 155260382 . C T 1117.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.103;DP=77;Dels=0.00;FS=8.752;HRun=0;HaplotypeScore=2.7476;MQ=59.26;MQ0=0;MQRankSum=-0.385;QD=14.52;ReadPosRankSum=0.508;VQSLOD=4.0527;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,43:77:99:1148,0,972 1 155264120 155264120 C G exonic PKLR nonsynonymous SNV PKLR:NM_000298:exon7:c.G1022C:p.G341A,PKLR:NM_181871:exon7:c.G929C:p.G310A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.025 0.477 D 1.0 0.899 D 0.998 0.875 D 0.000 0.843 D 1 0.810 D 2.51 0.734 M -7.15 0.998 D -5.6 0.869 D 0.97 0.970 0.962 0.966 D 0.993 0.998 D 0.367 0.927 D 5.911 0.811 27.5 0.999 0.930 0.993 0.938 D c 0.917 0.851 1.000 0.747 0.635 0.417 0 4.94 0.645 7.905 0.864 0.848 0.348 1.000 0.715 0.959 0.439 16.046 0.804 Pyruvate kinase\x2c barrel|Pyruvate/Phosphoenolpyruvate kinase-like domain . . . . . . . . . . . . . . . . . . . het 760.63 55 1 155264120 . C G 760.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.718;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9966;MQ=58.47;MQ0=0;MQRankSum=0.840;QD=13.83;ReadPosRankSum=-1.723;VQSLOD=3.8562;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,28:55:99:791,0,832 1 155294274 155294274 A G exonic RUSC1 synonymous SNV RUSC1:NM_001105205:exon1:c.A66G:p.L22L 0.95 0.81 0.98 1. 1. 1. 0.9886 0.8562 0.9952 1 1 0.9998 0.9939 0.9996 0.96 0.86 1. 0.96 0.84 rs914616 COSM4142793 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9903 0.8573 0.9941 1 0.9999 1 0.9998 0.9950 0.9996 0.9588 0.8551 0.9940 1 1 1 1 0.9938 hom 1589.10 45 1 155294274 . A G 1589.10 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;QD=35.31;VQSLOD=8.6742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1622,132,0 1 155408635 155408635 T C exonic ASH1L nonsynonymous SNV ASH1L:NM_018489:exon5:c.A5311G:p.T1771A 0.95 0.81 0.98 1. 1. 1. 0.9869 0.8550 0.9951 1 1 0.9998 0.9923 0.9996 0.95 0.86 1. 0.96 0.98 rs4971053 . . . . . . . . . . . . . 0.162 0.235 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P 0 0.065 N -2.27 0.874 D -0.26 0.112 N 0.017 0.003 -0.875 0.501 T 0.217 0.579 T . . . 0.247 0.118 5.166 0.963 0.287 0.623 0.315 D c -0.612 -0.425 0.001 0.084 0.707 0.730 0 4.31 0.505 2.325 0.433 -0.269 0.086 0.993 0.376 0.922 0.397 5.856 0.179 . ENSG00000177628.11|ENSG00000132676.11|ENSG00000177628.11|ENSG00000132718.7 Nerve_Tibial|Thyroid|Thyroid|Thyroid 0.9901 0.8582 0.9941 1 0.9999 1 0.9997 0.9947 0.9995 0.9588 0.8551 0.9940 1 1 1 1 0.9939 hom 4079.81 134 1 155408635 . T C 4079.81 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.04;MQ0=0;QD=30.22;VQSLOD=8.9660;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4079,349,0 1 155837865 155837865 G C exonic SYT11 nonsynonymous SNV SYT11:NM_152280:exon2:c.G144C:p.Q48H 0.95 0.84 0.98 1. 1. 1. 0.9880 0.8670 0.9954 1 1 0.9999 0.9923 0.9995 0.95 0.87 1. 0.97 0.97 rs822522 . . . . . . . . . . . . . 0.866 0.026 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1.000 0.588 P -1.1 0.010 N 0.91 0.449 T 0.49 0.030 N 0.072 0.061 -0.978 0.355 T 0.015 0.059 T . . . 0.291 0.122 5.605 0.503 0.043 0.209 0.210 N c -1.029 -0.778 1.000 0.500 0.706 0.609 0 3.65 0.408 1.750 0.377 -0.907 0.026 1.000 0.715 0.992 0.562 7.439 0.262 . ENSG00000132676.11|ENSG00000177628.11|ENSG00000196189.8 Thyroid|Thyroid|Thyroid 0.9909 0.8689 0.9947 1 0.9999 1 0.9998 0.9947 0.9996 0.9626 0.8686 0.9928 1 1 1 0.9999 0.9949 hom 4144.58 123 1 155837865 . G C 4144.58 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9126;MQ=59.32;MQ0=0;QD=33.70;VQSLOD=7.7382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4144,325,0 1 155838267 155838267 T C exonic SYT11 synonymous SNV SYT11:NM_152280:exon2:c.T546C:p.H182H 0.93 0.75 0.99 1. 1. 1. 0.9799 0.7794 0.9909 0.9998 1 0.9997 0.9890 0.9995 0.93 0.78 1. 0.97 0.98 rs822521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9845 0.7797 0.9904 1 0.9995 1 0.9996 0.9923 0.9995 0.9371 0.7799 0.9833 1 1 1 0.9997 0.9888 hom 3522.66 113 1 155838267 . T C 3522.66 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8226;MQ=58.74;MQ0=0;QD=31.17;VQSLOD=9.3887;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3522,286,0 1 155912486 155912486 T C exonic RXFP4 nonsynonymous SNV RXFP4:NM_181885:exon1:c.T986C:p.L329S 0.92 0.74 0.98 1. 1. 0.98 0.9797 0.8118 0.9918 0.9997 1 0.9995 0.9844 0.9775 0.94 0.82 1. 0.91 0.97 rs2152051 . . . . . . . . . . . . . 0.532 0.070 T 0.0 0.026 B 0.0 0.013 B 0.513 0.118 N 1 0.090 P -0.695 0.019 N 1.25 0.365 T 1.47 0.008 N 0.089 0.086 -0.943 0.421 T 0.009 0.034 T . . . -0.659 0.047 0.090 0.770 0.113 0.006 0.027 N c -1.282 -1.194 1.000 0.747 0.680 0.551 0 1.86 0.244 -0.129 0.104 0.069 0.176 0.000 0.063 0.017 0.128 4.614 0.117 . ENSG00000177628.11 Thyroid 0.9835 0.8105 0.9908 0.9999 0.9997 1 0.9993 0.9908 0.9773 0.9479 0.8186 0.9881 1 1 1 0.9993 0.9888 hom 2492.23 81 1 155912486 . T C 2492.23 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7356;MQ=59.37;MQ0=0;QD=30.77;VQSLOD=9.0839;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2525,229,0 1 156011444 156011444 T C exonic UBQLN4 nonsynonymous SNV UBQLN4:NM_001304342:exon10:c.A1425G:p.I475M,UBQLN4:NM_020131:exon10:c.A1485G:p.I495M 0.43 0.38 0.55 0.14 0.6 0.55 0.5802 0.4690 0.4873 0.1877 0.6235 0.6468 0.5604 0.5720 0.55 0.44 0.61 0.42 0.49 rs2297792 COSM5420315 1(pancreas) . . . . . . . . . . . 0.421 0.098 T 0.019 0.167 B 0.004 0.093 B 0.070 0.215 N 1.000 0.182 P 0 0.065 N 0.53 0.551 T 0.13 0.055 N 0.008 0.014 -1.026 0.218 T 0.021 0.091 T . . . 2.042 0.306 16.48 0.743 0.103 0.228 0.216 N c -0.336 -0.260 0.006 0.111 0.672 0.522 0 2.56 0.297 0.716 0.253 -0.314 0.078 0.990 0.367 0.939 0.413 4.360 0.106 . ENSG00000143622.6|ENSG00000143622.6|ENSG00000143622.6|ENSG00000143622.6|ENSG00000143622.6|ENSG00000116584.13|ENSG00000177628.11|ENSG00000143622.6|ENSG00000143622.6|ENSG00000143627.13|ENSG00000143630.5|ENSG00000143622.6|ENSG00000143622.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5309 0.4332 0.4483 0.5790 0.1277 0.5927 0.6174 0.5641 0.5241 0.5465 0.4491 0.4857 0.5960 0.1354 0.6092 0.6317 0.6084 hom 468.03 13 1 156011444 . T C 468.03 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.57;MQ0=0;QD=36.00;VQSLOD=9.1336;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:501,39,0 1 156025096 156025096 C T exonic LAMTOR2 synonymous SNV LAMTOR2:NM_001145264:exon2:c.C111T:p.Y37Y,LAMTOR2:NM_014017:exon2:c.C111T:p.Y37Y 0.072 0.033 0.13 0.001 0.16 0.067 0.1203 0.0515 0.0837 0.0003 0.1494 0.1597 0.1427 0.0802 0.13 0.057 0.16 0.11 0.11 rs7541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1222 0.0511 0.0907 0.1552 0.0004 0.1502 0.1614 0.1538 0.0815 0.1126 0.0476 0.1265 0.1433 0.0012 0.1424 0.1522 0.1427 het 2778.70 244 1 156025096 . C T 2778.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.188;DP=244;DS;Dels=0.00;FS=12.203;HRun=0;HaplotypeScore=7.1915;MQ=59.12;MQ0=0;MQRankSum=2.002;QD=11.39;ReadPosRankSum=-1.061;VQSLOD=2.8937;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,104:244:99:2809,0,3543 1 156146218 156146218 C T exonic SEMA4A synonymous SNV SEMA4A:NM_001193302:exon13:c.C1320T:p.P440P,SEMA4A:NM_001193300:exon15:c.C1716T:p.P572P,SEMA4A:NM_001193301:exon15:c.C1716T:p.P572P,SEMA4A:NM_022367:exon15:c.C1716T:p.P572P 0.43 0.39 0.52 0.23 0.6 0.44 0.5272 0.4013 0.5330 0.2381 0.5628 0.5929 0.5166 0.4750 0.53 0.42 0.59 0.35 0.63 rs12401573 COSM5442379 1(breast);1(oesophagus) Benign|Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive|Cone-Rod_Dystrophy\x2c_Recessive RCV000248681.1|RCV000271657.1|RCV000326719.1 MedGen|MedGen|MedGen CN169374|CN239466|CN239309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5286 0.4006 0.5332 0.5461 0.2406 0.5632 0.5947 0.5561 0.4736 0.5137 0.4046 0.5469 0.5960 0.2407 0.5447 0.5923 0.5685 het 842.41 67 1 156146218 . C T 842.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.837;DP=67;Dels=0.00;FS=1.167;HRun=0;HaplotypeScore=0.6651;MQ=57.82;MQ0=0;MQRankSum=0.861;QD=12.57;ReadPosRankSum=2.377;VQSLOD=4.0968;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,31:67:99:872,0,858 1 156202173 156202173 A G exonic PMF1;PMF1-BGLAP nonsynonymous SNV PMF1:NM_001199653:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199661:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199662:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199663:exon2:c.A224G:p.Q75R,PMF1:NM_007221:exon2:c.A224G:p.Q75R 0.45 0.71 0.37 0.33 0.37 0.35 0.3852 0.6759 0.3348 0.3437 0.3580 0.3702 0.3907 0.3301 0.47 0.67 0.36 0.45 0.35 rs1052053 COSM4142815 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.030 0.253 N 1 0.090 P -1.345 0.007 N 1.61 0.284 T 0.25 0.049 N 0.055 0.107 -0.942 0.423 T 0.006 0.020 T . . . -0.318 0.067 0.605 0.646 0.073 0.020 0.060 N c -1.066 -0.852 0.999 0.380 0.707 0.730 0 4.69 0.584 2.827 0.476 0.138 0.222 0.814 0.297 0.812 0.340 8.218 0.305 . ENSG00000198952.7|ENSG00000160785.9|ENSG00000196189.8|ENSG00000160785.9|ENSG00000160785.9|ENSG00000196189.8|ENSG00000160785.9|ENSG00000196189.8|ENSG00000163472.14|ENSG00000198715.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3758 0.6846 0.3425 0.3123 0.3333 0.3520 0.3733 0.3738 0.3296 0.4614 0.6757 0.3529 0.3893 0.3154 0.3561 0.3896 0.3845 het 3065.28 226 1 156202173 . A G 3065.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.212;DP=226;DS;Dels=0.00;FS=5.190;HRun=0;HaplotypeScore=8.9873;MQ=59.00;MQ0=0;MQRankSum=3.086;QD=13.56;ReadPosRankSum=0.331;VQSLOD=3.2482;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,113:226:99:3095,0,3218 1 156206121 156206121 G A exonic PMF1;PMF1-BGLAP nonsynonymous SNV PMF1-BGLAP:NM_001199664:exon2:c.G204A:p.M68I,PMF1:NM_001199654:exon4:c.G417A:p.M139I,PMF1-BGLAP:NM_001199662:exon4:c.G411A:p.M137I,PMF1:NM_007221:exon4:c.G411A:p.M137I 0.19 0.11 0.22 0.21 0.28 0.19 0.2344 0.1488 0.1516 0.1882 0.2870 0.2771 0.2489 0.1768 0.24 0.16 0.27 0.14 0.3 rs1052067 . . . . . . . . . . . . . 0.065 0.363 T 0.139 0.259 B 0.127 0.311 B . . . 0.997 0.588 P 1.405 0.356 L 1.7 0.269 T -0.45 0.183 N 0.079 0.080 -1.085 0.064 T 0.027 0.116 T . . . 1.344 0.225 12.50 0.984 0.411 0.805 0.398 D c -0.377 -0.269 0.946 0.276 0.707 0.730 0 3.93 0.445 2.313 0.432 0.108 0.203 1.000 0.715 0.663 0.301 10.624 0.445 . ENSG00000198952.7|ENSG00000160785.9|ENSG00000196189.8|ENSG00000160785.9|ENSG00000160785.9|ENSG00000196189.8|ENSG00000196189.8|ENSG00000196189.8|ENSG00000196189.8|ENSG00000163468.10|ENSG00000160785.9|ENSG00000198952.7|ENSG00000198715.7|ENSG00000196189.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.2330 0.1461 0.1674 0.2291 0.1848 0.2808 0.2783 0.2431 0.1757 0.2373 0.1537 0.1933 0.3013 0.1601 0.2797 0.2847 0.2520 hom 4717.63 147 1 156206121 . G A 4717.63 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.11;MQ0=0;QD=31.88;VQSLOD=9.8060;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4717,373,0 1 156213921 156213921 C T exonic PAQR6 nonsynonymous SNV PAQR6:NM_001272109:exon5:c.G367A:p.E123K,PAQR6:NM_001272112:exon5:c.G367A:p.E123K,PAQR6:NM_001272113:exon5:c.G367A:p.E123K,PAQR6:NM_001272106:exon6:c.G583A:p.E195K,PAQR6:NM_001272110:exon7:c.G367A:p.E123K,PAQR6:NM_001272111:exon7:c.G367A:p.E123K,PAQR6:NM_024897:exon7:c.G787A:p.E263K 0.22 0.16 0.3 0.26 0.15 0.28 0.1914 0.1561 0.3236 0.2490 0.0782 0.1620 0.1753 0.2595 0.16 0.16 0.16 0.15 0.14 rs7513351 COSM3750416;COSM3750415 1(bone);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.154 0.265 B 0.048 0.236 B . . . 1 0.205 P . . . 1.15 0.382 T 0.0 0.070 N 0.074 0.064 -0.977 0.357 T 0.021 0.089 T . . . 2.547 0.367 19.77 0.972 0.323 0.287 0.234 N c -0.705 -0.751 1.000 0.747 0.635 0.413 0 -3.56 0.043 0.812 0.267 0.077 0.185 0.994 0.380 0.128 0.199 2.575 0.045 . ENSG00000242252.1|ENSG00000198715.7|ENSG00000160781.11|ENSG00000160781.11|ENSG00000242252.1|ENSG00000160781.11|ENSG00000163472.14|ENSG00000198952.7|ENSG00000198715.7 Brain_Cerebellum|Liver|Lung|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.1959 0.1595 0.3166 0.2219 0.2444 0.0797 0.1626 0.1826 0.2531 0.1558 0.1557 0.3230 0.2152 0.2392 0.0793 0.1542 0.1538 het 1158.29 97 1 156213921 . C T 1158.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.077;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=59.76;MQ0=0;MQRankSum=-0.702;QD=11.94;ReadPosRankSum=0.107;VQSLOD=6.6494;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1188,0,1512 1 156347131 156347131 G A exonic RHBG nonsynonymous SNV RHBG:NM_020407:exon2:c.G227A:p.G76D,RHBG:NM_001256395:exon3:c.G20A:p.G7D,RHBG:NM_001256396:exon3:c.G137A:p.G46D 0.27 0.19 0.28 0.1 0.46 0.35 0.3740 0.2161 0.2259 0.0992 0.4796 0.4523 0.3974 0.3602 0.37 0.23 0.45 0.2 0.45 rs2245623 COSM4142826;COSM4142824;COSM4142825;COSM4142823 2(thyroid) . . . . . . . . . . . . . . 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.810 P 3.605 0.939 H . . . . . . 0.371 0.799 0.705 0.932 D 0.739 0.911 D . . . 6.377 0.880 29.5 0.996 0.756 0.978 0.769 D c 0.994 0.904 1.0 0.983 0.549 0.223 0 4.86 0.625 9.740 0.980 1.048 0.713 1.000 0.715 1.000 0.888 16.719 0.852 Ammonium transporter AmtB-like domain|Ammonium/urea transporter ENSG00000132677.8 Testis 0.3713 0.2134 0.2388 0.4222 0.0971 0.4759 0.4538 0.3798 0.3548 0.3555 0.2231 0.2722 0.37 0.0953 0.4730 0.4352 0.3945 het 3141.20 250 1 156347131 . G A 3141.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.580;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5514;MQ=59.24;MQ0=0;MQRankSum=-0.656;QD=12.56;ReadPosRankSum=-1.288;VQSLOD=5.8928;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3171,0,3539 1 156351699 156351699 G A exonic RHBG nonsynonymous SNV RHBG:NM_020407:exon6:c.G943A:p.G315R,RHBG:NM_001256395:exon7:c.G736A:p.G246R,RHBG:NM_001256396:exon7:c.G853A:p.G285R 0.54 0.57 0.6 0.7 0.41 0.44 0.4800 0.5484 0.6252 0.7071 0.4269 0.4315 0.4456 0.4381 0.46 0.53 0.43 0.64 0.36 rs3748569 COSM4142835;COSM4142832;COSM4142834;COSM4142833 1(pancreas);1(thyroid) . . . . . . . . . . . . . . 0.999 0.899 D 0.986 0.971 D 0.000 0.843 D 0.000 0.810 P 3.52 0.931 H . . . . . . 0.313 0.817 -0.251 0.763 T 0.288 0.660 T . . . 6.855 0.929 33 0.999 0.994 0.960 0.670 D c 0.880 0.777 1.000 0.747 0.554 0.283 0 4.44 0.530 7.757 0.839 1.048 0.713 1.000 0.715 1.000 0.888 14.590 0.678 Ammonium transporter AmtB-like domain|Ammonium/urea transporter . . 0.4810 0.5493 0.6114 0.4261 0.7066 0.4270 0.4276 0.4812 0.4365 0.4928 0.5398 0.5658 0.4901 0.7064 0.4387 0.4516 0.4867 het 1055.79 80 1 156351699 . G A 1055.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.652;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8267;MQ=59.71;MQ0=0;MQRankSum=1.289;QD=13.20;ReadPosRankSum=1.201;VQSLOD=6.0660;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:1086,0,1052 1 156354367 156354367 A G exonic RHBG nonsynonymous SNV RHBG:NM_020407:exon10:c.A1283G:p.H428R,RHBG:NM_001256395:exon11:c.A1076G:p.H359R,RHBG:NM_001256396:exon11:c.A1193G:p.H398R 0.73 0.9 0.67 0.9 0.51 0.61 0.6122 0.8555 0.6875 0.9116 0.5319 0.5301 0.5907 0.6203 0.63 0.85 0.53 0.84 0.48 rs6668857 COSM3750424;COSM3750425;COSM3750423 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.998 0.810 P . . . . . . . . . 0.037 0.219 -1.076 0.082 T 0.048 0.206 T . . . 0.646 0.156 8.468 0.987 0.442 0.048 0.104 N c 0.187 0.276 1.000 0.747 0.581 0.326 0 5.94 0.962 4.034 0.568 0.138 0.222 1.000 0.715 0.956 0.434 11.353 0.487 Ammonium/urea transporter ENSG00000132677.8|ENSG00000132677.8 Skin_Sun_Exposed_Lower_leg|Testis 0.6137 0.8585 0.6823 0.5985 0.9147 0.5385 0.5257 0.6085 0.6129 0.6594 0.8610 0.6687 0.6391 0.9115 0.5419 0.5459 0.5980 het 2450.34 212 1 156354367 . A G 2450.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.524;DP=212;Dels=0.00;FS=1.094;HRun=0;HaplotypeScore=4.1670;MQ=59.22;MQ0=0;MQRankSum=-0.626;QD=11.56;ReadPosRankSum=-0.997;VQSLOD=5.7796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,97:212:99:2480,0,2642 1 156450719 156450719 G A exonic MEF2D synonymous SNV MEF2D:NM_001271629:exon4:c.C303T:p.P101P,MEF2D:NM_005920:exon4:c.C303T:p.P101P 0.23 0.18 0.3 0.24 0.24 0.24 0.2537 0.2102 0.3738 0.2811 0.3438 0.2246 0.2562 0.2626 0.22 0.21 0.23 0.29 0.21 rs1185700 COSM3750426 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2592 0.2096 0.3652 0.1391 0.2726 0.3450 0.2273 0.2358 0.2556 0.2510 0.2137 0.3222 0.1333 0.2825 0.3460 0.2447 0.2643 het 4708.27 250 1 156450719 . G A 4708.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.705;DP=250;DS;Dels=0.00;FS=2.298;HRun=0;HaplotypeScore=3.4557;MQ=58.53;MQ0=1;MQRankSum=-0.076;QD=18.83;ReadPosRankSum=-0.955;VQSLOD=4.6892;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,153:250:99:4099,0,2243 1 156526387 156526387 C G exonic IQGAP3 nonsynonymous SNV IQGAP3:NM_178229:exon12:c.G1228C:p.V410L 0.38 0.14 0.55 0.43 0.63 0.27 0.5376 0.2137 0.5557 0.4542 0.6786 0.6303 0.5564 0.3400 0.5 0.24 0.64 0.38 0.65 rs11264498 COSM5445704 1(oesophagus) . . . . . . . . . . . 0.004 0.654 D 0.994 0.647 D 0.97 0.706 D 0.000 0.843 D 0.000 0.588 P 1.81 0.478 L 2.62 0.130 T -2.44 0.534 N 0.326 0.387 -1.148 0.011 T 0.066 0.273 T . . . 5.773 0.789 27.0 0.998 0.888 0.985 0.838 D c 0.635 0.605 1.000 0.747 0.707 0.730 0 5.54 0.828 5.954 0.698 0.892 0.403 1.000 0.715 0.866 0.362 18.056 0.892 . ENSG00000163382.7|ENSG00000163382.7|ENSG00000163382.7|ENSG00000187862.7|ENSG00000187862.7|ENSG00000187862.7 Adipose_Subcutaneous|Artery_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood 0.5460 0.2015 0.5505 0.5245 0.4614 0.6760 0.6369 0.5709 0.3391 0.5046 0.2157 0.5467 0.5265 0.4671 0.6772 0.6299 0.5644 hom 2972.36 86 1 156526387 . C G 2972.36 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=34.56;VQSLOD=9.7412;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:3005,241,0 1 156526444 156526444 T C exonic IQGAP3 nonsynonymous SNV IQGAP3:NM_178229:exon12:c.A1171G:p.R391G 0.96 0.85 0.99 1. 1. 1. 0.9878 0.8655 0.9955 1 1 0.9997 0.9933 0.9997 0.96 0.88 1. 0.89 1. rs2488269 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.441 N 0.945 0.267 P -2.155 0.001 N 3.66 0.043 T 4.51 0.000 N 0.257 0.313 -0.935 0.433 T 0.001 0.004 T . . . 0.667 0.158 8.611 0.414 0.030 0.160 0.190 N c -0.860 -0.551 1.000 0.747 0.732 0.924 0 5.54 0.828 3.231 0.507 0.040 0.155 0.990 0.367 0.666 0.302 13.383 0.601 . . . 0.9904 0.8607 0.9950 1 1 1 0.9998 0.9956 0.9996 0.9602 0.8611 0.9905 1 1 1 0.9997 0.9929 hom 2810.02 92 1 156526444 . T C 2810.02 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9789;MQ=57.41;MQ0=0;QD=30.54;VQSLOD=7.2546;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2843,217,0 1 156532977 156532977 T C exonic IQGAP3 synonymous SNV IQGAP3:NM_178229:exon8:c.A747G:p.Q249Q 0.96 0.85 0.99 1. 1. 1. 0.9878 0.8646 0.9955 1 1 0.9998 0.9934 0.9997 0.96 0.88 1. 0.98 1. rs1171547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9904 0.8607 0.9949 1 1 1 0.9998 0.9953 0.9997 0.9601 0.8604 0.9916 1 1 1 0.9997 0.9929 hom 5497.69 169 1 156532977 . T C 5497.69 Mask AC=2;AF=1.00;AN=2;DP=169;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1022;MQ=59.03;MQ0=0;QD=32.53;VQSLOD=7.3395;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5497,427,0 1 156536221 156536221 G C exonic IQGAP3 synonymous SNV IQGAP3:NM_178229:exon3:c.C243G:p.P81P 0.96 0.85 0.99 1. 1. 1. 0.9878 0.8647 0.9955 1 1 0.9998 0.9934 0.9997 0.96 0.88 1. 0.98 1. rs2066377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9904 0.8606 0.9949 1 1 1 0.9998 0.9952 0.9997 0.9600 0.8605 0.9905 1 0.9994 1 0.9997 0.9929 hom 2070.06 70 1 156536221 . G C 2070.06 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=29.57;VQSLOD=8.5519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2103,174,0 1 156536251 156536251 T C exonic IQGAP3 synonymous SNV IQGAP3:NM_178229:exon3:c.A213G:p.L71L 0.96 0.85 0.99 1. 1. 1. 0.9878 0.8647 0.9955 1 1 0.9998 0.9934 0.9997 0.96 0.88 1. 0.98 1. rs947662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9904 0.8606 0.9949 1 1 1 0.9998 0.9953 0.9997 0.9601 0.8606 0.9905 1 1 1 0.9997 0.9929 hom 2256.83 67 1 156536251 . T C 2256.83 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7340;MQ=58.75;MQ0=0;QD=33.68;VQSLOD=8.8152;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2290,181,0 1 156556321 156556321 G A exonic TTC24 synonymous SNV TTC24:NM_001105669:exon10:c.G1728A:p.S576S 0.77 0.29 0.91 0.97 0.96 0.92 0.9156 0.3926 0.9561 0.9737 0.9793 0.9681 0.9308 0.9186 0.8 0.45 0.97 0.72 . rs10796961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9225 0.3674 0.9504 0.9698 0.9751 0.9760 0.9673 0.9404 0.9167 0.8045 0.3906 0.9415 0.9636 0.9728 0.9788 0.9650 0.9366 hom 1211.30 41 1 156556321 . G A 1211.30 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.44;MQ0=0;QD=29.54;VQSLOD=8.3714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:93.30:1244,93,0 1 156561651 156561651 G C exonic NAXE nonsynonymous SNV NAXE:NM_144772:exon1:c.G55C:p.V19L 0.93 0.86 0.96 0.97 0.96 0.92 0.9575 0.8612 0.9796 0.9742 0.9795 0.9712 0.9520 0.9217 0.95 0.89 0.98 0.67 0.75 rs7516274 COSM3750429;COSM3750428 2(thyroid);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.084 0.207 N 1 0.090 P -1.59 0.004 N 0.93 0.441 T 0.0 0.080 N 0.007 0.003 -0.944 0.420 T 0.009 0.031 T . . . 0.392 0.132 6.545 0.581 0.058 0.065 0.123 N c -1.299 -1.169 1.000 0.747 0.442 0.072 0 1.94 0.249 0.183 0.166 0.067 0.174 0.001 0.137 0.239 0.226 5.944 0.183 . ENSG00000160818.12 Muscle_Skeletal 0.9590 0.8536 0.9761 0.9763 0.9758 0.9770 0.9705 0.9612 0.9197 0.9375 0.8559 0.9694 0.9765 0.9753 0.9787 0.9677 0.9548 hom 1268.37 45 1 156561651 . G C 1268.37 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;QD=28.19;VQSLOD=7.4861;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1301,99,0 1 156563726 156563726 A C exonic NAXE synonymous SNV NAXE:NM_144772:exon6:c.A717C:p.I239I 0.93 0.86 0.96 0.97 0.96 0.92 0.9551 0.8547 0.9789 0.9745 0.9787 0.9704 0.9515 0.9207 0.93 0.86 0.97 0.95 0.94 rs6427322 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 D 0.971 0.810 P . . . 0.73 0.507 T -0.13 0.090 N . . -1.006 0.283 T 0.022 0.092 T . . . -0.117 0.083 1.607 0.777 0.116 0.462 0.275 N c -0.720 -0.579 1.000 0.747 0.722 0.854 0 2.99 0.335 2.256 0.426 -0.425 0.059 1.000 0.715 0.986 0.517 4.425 0.108 YjeF N-terminal domain ENSG00000160818.12 Muscle_Skeletal 0.9580 0.8507 0.9761 0.9763 0.9759 0.9762 0.9699 0.9597 0.9193 0.9376 0.8559 0.9701 0.9768 0.9753 0.9791 0.9675 0.9560 hom 6974.10 213 1 156563726 . A C 6974.10 Mask AC=2;AF=1.00;AN=2;DP=213;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3483;MQ=59.04;MQ0=0;QD=32.74;VQSLOD=7.0983;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,213:213:99:6973,554,0 1 156563813 156563813 G A exonic NAXE synonymous SNV NAXE:NM_144772:exon6:c.G804A:p.E268E 0.93 0.86 0.96 0.97 0.96 0.92 0.9552 0.8545 0.9789 0.9745 0.9787 0.9704 0.9515 0.9208 0.93 0.86 0.97 0.95 0.98 rs6668178 . . . . . . . . . . . . . 0.7 0.042 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 D 1.000 0.588 P . . . 0.59 0.540 T -0.59 0.176 N . . -1.094 0.049 T 0.044 0.191 T . . . 1.371 0.228 12.64 0.916 0.203 0.834 0.423 D c -0.406 -0.282 1.000 0.747 0.672 0.522 0 1.31 0.207 3.260 0.510 -0.109 0.115 1.000 0.715 0.998 0.697 4.496 0.112 YjeF N-terminal domain ENSG00000160818.12 Muscle_Skeletal 0.9580 0.8504 0.9761 0.9763 0.9759 0.9762 0.9699 0.9599 0.9193 0.9373 0.8550 0.9701 0.9768 0.9753 0.9791 0.9675 0.9542 hom 6267.51 193 1 156563813 . G A 6267.51 Mask AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.6712;MQ=58.73;MQ0=0;QD=32.31;VQSLOD=6.0836;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:6267,491,0 1 156563852 156563852 C T exonic NAXE synonymous SNV NAXE:NM_144772:exon6:c.C843T:p.T281T 0.93 0.86 0.96 0.97 0.96 0.92 0.9551 0.8543 0.9789 0.9745 0.9787 0.9704 0.9515 0.9208 0.93 0.86 0.97 0.94 0.96 rs942963 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9580 0.8500 0.9761 0.9764 0.9759 0.9763 0.9699 0.9602 0.9193 0.9373 0.8547 0.9702 0.9768 0.9753 0.9791 0.9677 0.9542 hom 4922.63 153 1 156563852 . C T 4922.63 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3255;MQ=58.90;MQ0=0;QD=32.17;VQSLOD=8.7931;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4922,388,0 1 156565049 156565049 - AC exonic GPATCH4 frameshift insertion GPATCH4:NM_015590:exon8:c.1083_1084insGT:p.F362Vfs*90,GPATCH4:NM_182679:exon8:c.1068_1069insGT:p.F357Vfs*90 0.99 0.98 1. 1. 1. 1. 0.9983 0.9818 0.9989 1 1 1.0000 0.9945 0.9999 0.99 0.98 1. . . rs72559129 COSM5022132;COSM5022133 1(bone);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9811 0.9984 1 1 1 1.0000 0.9987 0.9999 0.9943 0.9802 0.9964 1 1 1 0.9999 1 hom 13118.06 243 1 156565049 . A AAC 13118.06 Mask AC=2;AF=1.00;AN=2;DP=243;DS;FS=0.000;HRun=0;HaplotypeScore=593.3311;MQ=60.62;MQ0=0;QD=53.98;set=variant2 GT:AD:DP:GQ:PL 1/1:8,230:243:99:13118,704,0 1 156622252 156622252 G A exonic BCAN nonsynonymous SNV BCAN:NM_021948:exon8:c.G1510A:p.E504K,BCAN:NM_198427:exon8:c.G1510A:p.E504K 0.37 0.26 0.37 0.35 0.39 0.53 0.3953 0.2986 0.3360 0.3521 0.2757 0.3968 0.4059 0.5240 0.34 0.27 0.38 0.33 0.31 rs1056695 COSM3750430;COSM3750431 1(large_intestine) . . . . . . . . . . . 0.153 0.457 T 0.172 0.288 B 0.039 0.277 B 0.010 0.013 N 0.991 0.285 P 1.7 0.440 L 2.48 0.147 T -0.86 0.234 N 0.18 0.219 -0.975 0.362 T 0.009 0.033 T . . . 0.763 0.167 9.231 0.975 0.336 0.759 0.369 D c -0.536 -0.467 1.000 0.451 0.617 0.392 1 2.81 0.318 1.431 0.343 0.017 0.142 0.997 0.399 0.012 0.117 5.998 0.186 . ENSG00000272405.1 Esophagus_Mucosa 0.3607 0.2637 0.3018 0.3674 0.3286 0.2420 0.3767 0.3653 0.5116 0.3213 0.2645 0.3282 0.3576 0.3075 0.2446 0.3714 0.3409 het 197.16 23 1 156622252 . G A 197.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.098;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3302;MQ=58.99;MQ0=0;MQRankSum=1.259;QD=8.57;ReadPosRankSum=-0.807;VQSLOD=5.8848;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,8:23:99:227,0,436 1 156639636 156639636 G A exonic NES synonymous SNV NES:NM_006617:exon4:c.C4344T:p.A1448A 0.22 0.02 0.29 0.29 0.3 0.3 0.2603 0.0600 0.2568 0.2690 0.2348 0.2906 0.2584 0.2653 0.21 0.068 0.28 0.2 0.17 rs11549292 COSM1127348 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2597 0.0546 0.2533 0.2295 0.2797 0.2369 0.2926 0.2786 0.2605 0.2165 0.0617 0.2458 0.2185 0.2534 0.2430 0.2920 0.2593 het 816.98 56 1 156639636 . G A 816.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.780;DP=56;Dels=0.00;FS=6.210;HRun=0;HaplotypeScore=1.8273;MQ=58.92;MQ0=0;MQRankSum=0.550;QD=14.59;ReadPosRankSum=-1.060;VQSLOD=4.4350;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,30:56:99:847,0,788 1 156639753 156639753 G A exonic NES synonymous SNV NES:NM_006617:exon4:c.C4227T:p.S1409S 0.62 0.39 0.68 0.86 0.63 0.63 0.6230 0.4002 0.6836 0.8493 0.6064 0.6255 0.5964 0.5881 0.54 0.4 0.62 0.59 0.56 rs11582300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6290 0.3901 0.6857 0.6368 0.8578 0.6079 0.6230 0.6324 0.5881 0.5703 0.3979 0.6550 0.6589 0.8674 0.6088 0.6204 0.6091 het 630.31 52 1 156639753 . G A 630.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.874;DP=52;Dels=0.00;FS=2.433;HRun=0;HaplotypeScore=0.9159;MQ=58.83;MQ0=0;MQRankSum=-1.842;QD=12.12;ReadPosRankSum=0.571;VQSLOD=5.3605;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,23:52:99:660,0,795 1 156640156 156640156 G A exonic NES nonsynonymous SNV NES:NM_006617:exon4:c.C3824T:p.P1275L 0.72 0.71 0.71 0.87 0.66 0.67 0.6745 0.6941 0.7115 0.8565 0.6574 0.6514 0.6604 0.6387 0.66 0.69 0.64 0.69 0.62 rs3748570 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.292 N 1.000 0.205 P -1.04 0.011 N -1.7 0.831 D 3.27 0.001 N 0.054 0.077 -1.028 0.212 T 0.043 0.187 T . . . 0.790 0.169 9.401 0.655 0.076 0.031 0.080 N c -1.070 -0.784 1.000 0.500 0.722 0.854 0 4.95 0.648 1.235 0.321 0.244 0.267 0.995 0.385 0.984 0.507 4.630 0.118 . ENSG00000272068.1 Colon_Transverse 0.6759 0.6943 0.7140 0.7120 0.8644 0.6617 0.6451 0.6814 0.6275 0.6756 0.6954 0.6911 0.7450 0.8705 0.6612 0.6444 0.6670 het 2753.75 187 1 156640156 . G A 2753.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.284;DP=187;Dels=0.00;FS=4.226;HRun=0;HaplotypeScore=4.5480;MQ=59.29;MQ0=0;MQRankSum=-0.377;QD=14.73;ReadPosRankSum=-0.001;VQSLOD=5.2430;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,107:187:99:2784,0,2121 1 156640308 156640308 C T exonic NES synonymous SNV NES:NM_006617:exon4:c.G3672A:p.T1224T 0.22 0.016 0.29 0.29 0.3 0.31 0.2631 0.0524 0.2558 0.2684 0.2340 0.2926 0.2687 0.2985 0.21 0.063 0.29 0.2 0.19 rs3748571 COSM1559925 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2568 0.0471 0.2509 0.2245 0.2787 0.2355 0.2899 0.2749 0.2597 0.2146 0.0556 0.2446 0.2185 0.2528 0.2430 0.2917 0.2602 het 2654.21 209 1 156640308 . C T 2654.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.424;DP=209;DS;Dels=0.00;FS=5.924;HRun=0;HaplotypeScore=8.9388;MQ=59.58;MQ0=0;MQRankSum=0.474;QD=12.70;ReadPosRankSum=-0.430;VQSLOD=4.4470;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,98:209:99:2684,0,2904 1 156640503 156640503 C T exonic NES synonymous SNV NES:NM_006617:exon4:c.G3477A:p.G1159G 0.22 0.016 0.29 0.29 0.3 0.31 0.2583 0.0521 0.2559 0.2687 0.2342 0.2897 0.2577 0.2667 0.21 0.063 0.29 0.2 0.18 rs3828043 COSM3750432 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.0473 0.2530 0.2295 0.2791 0.2369 0.2926 0.2781 0.2624 0.2140 0.0554 0.2458 0.2167 0.2506 0.2431 0.2910 0.2602 het 2129.32 129 1 156640503 . C T 2129.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.842;DP=129;Dels=0.00;FS=2.308;HRun=2;HaplotypeScore=2.2426;MQ=59.46;MQ0=0;MQRankSum=0.511;QD=16.51;ReadPosRankSum=1.231;VQSLOD=6.2490;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,77:129:99:2159,0,1405 1 156640678 156640678 G A exonic NES nonsynonymous SNV NES:NM_006617:exon4:c.C3302T:p.P1101L 0.62 0.39 0.67 0.86 0.65 0.63 0.6389 0.4001 0.6892 0.8475 0.6576 0.6459 0.6290 0.5946 0.56 0.41 0.64 0.59 0.34 rs2886443 COSM424142 1(thyroid) . . . . . . . . . . . 0.628 0.052 T 0.001 0.067 B 0.0 0.013 B 0.627 0.058 N 1 0.090 P 0.55 0.145 N -1.91 0.847 D 0.43 0.033 N 0.041 0.029 -0.989 0.329 T 0.191 0.544 T . . . -0.148 0.080 1.398 0.400 0.028 0.014 0.047 N c -1.674 -1.771 1.000 0.747 0.732 0.924 0 -4.17 0.036 -5.265 0.002 -0.778 0.033 0.000 0.063 0.000 0.016 4.053 0.092 . ENSG00000272068.1|ENSG00000272405.1 Colon_Transverse|Esophagus_Mucosa 0.6458 0.3932 0.6908 0.6916 0.8554 0.6622 0.6397 0.6532 0.5940 0.5847 0.3973 0.6736 0.7007 0.8631 0.6616 0.6354 0.6302 het 270.43 25 1 156640678 . G A 270.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.971;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.07;MQ0=0;MQRankSum=0.582;QD=10.82;ReadPosRankSum=0.693;VQSLOD=5.8765;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,10:25:99:300,0,437 1 156641537 156641537 C T exonic NES nonsynonymous SNV NES:NM_006617:exon4:c.G2443A:p.V815I 0.2 0.036 0.27 0.12 0.34 0.33 0.3053 0.0803 0.2790 0.1374 0.3432 0.3465 0.3278 0.3704 0.27 0.091 0.35 0.17 0.35 rs951781 COSM146641 1(stomach);1(large_intestine) . . . . . . . . . . . 0.18 0.219 T 0.026 0.181 B 0.001 0.040 B 0.393 0.045 N 1 0.090 P 1.4 0.355 L -1.96 0.851 D -0.43 0.144 N 0.007 0.000 -0.860 0.513 T 0.216 0.578 T . . . -0.095 0.085 1.771 0.789 0.121 0.043 0.097 N c -1.281 -1.363 1.000 0.747 0.707 0.730 0 -4.93 0.028 -1.579 0.022 -0.841 0.030 0.000 0.063 0.001 0.043 7.434 0.262 . ENSG00000132692.14|ENSG00000272068.1|ENSG00000272405.1 Colon_Transverse|Colon_Transverse|Esophagus_Mucosa 0.3054 0.0766 0.2731 0.2837 0.1294 0.3370 0.3514 0.3092 0.3699 0.2606 0.0836 0.2955 0.2550 0.1218 0.3380 0.3545 0.3279 het 1113.93 88 1 156641537 . C T 1113.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7279;MQ=59.53;MQ0=0;MQRankSum=0.385;QD=12.66;ReadPosRankSum=1.564;VQSLOD=5.9626;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,41:88:99:1144,0,1205 1 156646668 156646668 A G exonic NES nonsynonymous SNV NES:NM_006617:exon1:c.T389C:p.V130A 1. 0.99 1. 1. 1. 1. 0.9996 0.9943 0.9998 0.9997 1 0.9999 1 1 1. 0.99 1. 0.47 0.39 rs4278369 COSM3750433 2(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.196 P -0.425 0.029 N -2.53 0.894 D 1.31 0.009 N 0.042 0.045 -1.065 0.104 T 0.197 0.552 T . . . -1.327 0.021 0.004 0.350 0.022 0.008 0.034 N c -1.302 -1.280 1.000 0.517 0.733 0.969 0 1.39 0.212 0.668 0.246 -0.458 0.055 0.348 0.255 0.007 0.100 7.750 0.279 . . . 0.9997 0.9936 0.9998 1 0.9998 1 1.0000 0.9997 1 0.9987 0.9955 1 1 1 1 0.9999 1 hom 530.50 21 1 156646668 . A G 530.50 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9947;MQ=56.66;MQ0=0;QD=25.26;VQSLOD=2.8296;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:42.13:563,42,0 1 156705593 156705593 G C exonic RRNAD1 nonsynonymous SNV RRNAD1:NM_001142560:exon6:c.G713C:p.R238P,RRNAD1:NM_015997:exon7:c.G1198C:p.V400L 0.97 0.89 0.99 1. 1. 1. 0.9922 0.9140 0.9959 1 1 0.9999 0.9967 0.9999 0.97 0.92 1. 0.96 1. rs4311877 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.088 0.205 N 1.000 0.196 P . . . 1.07 0.396 T 2.35 0.003 N 0.042 0.022 -0.948 0.414 T 0.009 0.034 T . . . 1.039 0.194 10.88 0.965 0.296 0.254 0.225 N c -0.941 -0.682 1.000 0.747 0.672 0.522 0 1.63 0.228 1.192 0.315 0.067 0.174 1.000 0.715 0.998 0.697 11.449 0.492 . . . 0.9938 0.9116 0.9963 0.9999 0.9999 1 0.9999 0.9971 0.9998 0.9770 0.9199 0.9952 1 1 1 0.9997 0.9958 hom 4031.84 116 1 156705593 . G C 4031.84 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5990;MQ=59.80;MQ0=0;QD=34.76;VQSLOD=7.4755;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:4031,316,0 1 156784982 156784982 T C exonic SH2D2A nonsynonymous SNV SH2D2A:NM_001161443:exon2:c.A71G:p.N24S,SH2D2A:NM_001161441:exon3:c.A155G:p.N52S,SH2D2A:NM_001161442:exon3:c.A101G:p.N34S,SH2D2A:NM_001161444:exon3:c.A155G:p.N52S,SH2D2A:NM_003975:exon3:c.A155G:p.N52S 0.59 0.32 0.63 0.82 0.66 0.64 0.6612 0.4187 0.6961 0.8311 0.6562 0.6626 0.6776 0.6828 0.55 0.38 0.64 0.52 0.55 rs926103 . . . . . . . . . . . . . 0.711 0.041 T 0.0 0.026 B 0.0 0.013 B 0.001 0.007 N 1 0.090 P -0.11 0.046 N 0.55 0.547 T 0.07 0.068 N 0.001 0.000 -1.042 0.165 T 0.014 0.054 T . . . -4.184 0.000 0.001 0.276 0.014 0.004 0.021 N c -2.194 -2.261 1.000 0.747 0.615 0.372 0 -9.87 0.004 -1.585 0.022 -2.434 0.003 0.000 0.063 0.000 0.016 0.994 0.014 . ENSG00000027869.7 Cells_Transformed_fibroblasts 0.6429 0.3743 0.6765 0.6037 0.8213 0.6340 0.6425 0.6332 0.6559 0.5738 0.3873 0.6706 0.5828 0.8319 0.6306 0.6323 0.6242 het 41.21 12 1 156784982 . T C 41.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.370;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.555;QD=3.43;ReadPosRankSum=-0.185;VQSLOD=8.7808;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,3:12:71.20:71,0,258 1 156846233 156846233 G A exonic NTRK1 synonymous SNV NTRK1:NM_001012331:exon13:c.G1656A:p.Q552Q,NTRK1:NM_001007792:exon14:c.G1566A:p.Q522Q,NTRK1:NM_002529:exon14:c.G1674A:p.Q558Q 0.21 0.11 0.22 0.32 0.2 0.25 0.2203 0.1350 0.2174 0.3553 0.2096 0.2145 0.2220 0.2327 0.19 0.14 0.22 0.14 0.24 rs6334 COSM3750440;COSM3750439 7(soft_tissue);1(large_intestine) Benign Hereditary_insensitivity_to_pain_with_anhidrosis RCV000366755.1 MedGen:OMIM:Orphanet:SNOMED_CT C0020074:256800:ORPHA642:62985007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2202 0.1332 0.2154 0.1986 0.3505 0.2025 0.2147 0.2238 0.2353 0.1995 0.1354 0.2076 0.2167 0.3626 0.2084 0.2161 0.2055 het 975.91 69 1 156846233 . G A 975.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.519;DP=69;Dels=0.00;FS=3.243;HRun=1;HaplotypeScore=0.9989;MQ=59.46;MQ0=0;MQRankSum=1.684;QD=14.14;ReadPosRankSum=0.796;VQSLOD=6.2406;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,40:69:99:1006,0,759 1 156848918 156848918 C T exonic NTRK1 nonsynonymous SNV NTRK1:NM_001012331:exon14:c.C1792T:p.H598Y,NTRK1:NM_001007792:exon15:c.C1702T:p.H568Y,NTRK1:NM_002529:exon15:c.C1810T:p.H604Y 0.024 0.0038 0.029 . 0.041 0.057 0.0425 0.0091 0.0242 0.0005 0.0293 0.0550 0.0415 0.0525 0.044 0.012 0.06 0.022 0.016 rs6336 COSM5019976;COSM5019975 2(soft_tissue) Pathogenic|Pathogenic|other Familial_medullary_thyroid_carcinoma|Hereditary_insensitivity_to_pain_with_anhidrosis|Hereditary_insensitivity_to_pain_with_anhidrosis RCV000013100.23|RCV000030667.24|RCV000030674.2 MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT C1833921:155240:ORPHA99361|C0020074:256800:ORPHA642:62985007|C0020074:256800:ORPHA642:62985007 . . . . . . 0.001 0.912 D 0.998 0.764 D 0.981 0.736 D 0.000 0.537 D 1 0.810 A 1.33 0.334 L -1.68 0.829 D -5.34 0.846 D 0.735 0.741 0.178 0.855 D 0.529 0.825 D . . . 5.987 0.823 27.8 0.998 0.885 0.994 0.961 D c 0.599 0.602 1.000 0.747 0.598 0.340 0 4.37 0.517 7.827 0.848 0.935 0.490 1.000 0.715 0.994 0.587 15.985 0.798 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain . . 0.0417 0.0083 0.0233 0.0641 0.0003 0.0271 0.0552 0.0510 0.0552 0.0369 0.0108 0.0216 0.0762 0.0006 0.0335 0.0569 0.0378 het 560.80 53 1 156848918 . C T 560.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.842;DP=53;Dels=0.00;FS=1.072;HRun=0;HaplotypeScore=0.7340;MQ=58.85;MQ0=0;MQRankSum=0.074;QD=10.58;ReadPosRankSum=-0.700;VQSLOD=5.6920;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:591,0,721 1 156848946 156848946 G T exonic NTRK1 nonsynonymous SNV NTRK1:NM_001012331:exon14:c.G1820T:p.G607V,NTRK1:NM_001007792:exon15:c.G1730T:p.G577V,NTRK1:NM_002529:exon15:c.G1838T:p.G613V 0.023 0.0015 0.029 . 0.038 0.056 0.0424 0.0094 0.0242 0.0005 0.0298 0.0549 0.0412 0.0519 0.044 0.012 0.06 0.022 0.016 rs6339 COSM3750441;COSM3750442 2(soft_tissue);1(large_intestine) Pathogenic|Pathogenic|other|Benign Familial_medullary_thyroid_carcinoma|Hereditary_insensitivity_to_pain_with_anhidrosis|Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified RCV000013101.17|RCV000030667.24|RCV000031916.2|RCV000127263.1 MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C1833921:155240:ORPHA99361|C0020074:256800:ORPHA642:62985007|C0020074:256800:ORPHA642:62985007|CN169374 . . . . . . 0.023 0.481 D 0.009 0.368 B 0.027 0.344 B 0.350 0.138 N 1.000 0.588 A 1.37 0.343 L -2.4 0.885 D -2.72 0.579 D 0.393 0.539 -0.584 0.655 T 0.333 0.701 T . . . 2.932 0.413 22.0 0.992 0.565 0.943 0.606 D c -0.019 0.092 0.999 0.384 0.598 0.340 0 3.44 0.383 3.655 0.540 1.048 0.713 0.831 0.299 0.755 0.323 4.986 0.134 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain . . 0.0417 0.0084 0.0232 0.0639 0.0003 0.0274 0.0553 0.0507 0.0549 0.0371 0.0107 0.0215 0.0762 0.0006 0.0338 0.0573 0.0359 het 559.38 52 1 156848946 . G T 559.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.491;DP=52;Dels=0.00;FS=4.244;HRun=1;HaplotypeScore=0.9867;MQ=58.38;MQ0=0;MQRankSum=1.121;QD=10.76;ReadPosRankSum=0.898;VQSLOD=5.4427;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:589,0,729 1 156848995 156848995 C T exonic NTRK1 synonymous SNV NTRK1:NM_001012331:exon14:c.C1869T:p.A623A,NTRK1:NM_001007792:exon15:c.C1779T:p.A593A,NTRK1:NM_002529:exon15:c.C1887T:p.A629A 0.33 0.14 0.57 0.044 0.71 0.34 0.5724 0.2049 0.5699 0.0365 0.7328 0.7286 0.6141 0.3894 0.56 0.23 0.73 0.28 0.64 rs6337 COSM4142850;COSM4142851 2(thyroid) Benign Hereditary_insensitivity_to_pain_with_anhidrosis RCV000287221.1 MedGen:OMIM:Orphanet:SNOMED_CT C0020074:256800:ORPHA642:62985007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5806 0.1951 0.5753 0.7514 0.0396 0.7311 0.7246 0.6377 0.3930 0.5379 0.2079 0.5919 0.7351 0.0433 0.7278 0.7271 0.6219 hom 1302.82 37 1 156848995 . C T 1302.82 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=56.93;MQ0=0;QD=35.21;VQSLOD=6.7967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1336,108,0 1 156877457 156877457 T C exonic PEAR1 nonsynonymous SNV PEAR1:NM_001080471:exon7:c.T700C:p.S234P 0.98 0.91 1. 1. 1. 1. 0.9936 0.9301 0.9977 1 1 0.9998 0.9978 0.9997 0.98 0.93 1. 0.95 1. rs1952294 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.010 0.300 N 1.000 0.202 P -1.155 0.009 N 0.69 0.517 T 3.53 0.001 N 0.068 0.055 -0.972 0.368 T 0.009 0.031 T . . . 1.087 0.198 11.15 0.901 0.188 0.033 0.082 N c -0.889 -0.576 1.000 0.747 0.731 0.878 0 5.04 0.672 1.710 0.373 0.016 0.142 0.921 0.317 0.996 0.625 7.681 0.275 EGF-like domain . . 0.9952 0.9309 0.9975 0.9983 1 1 0.9998 0.9982 0.9998 0.9796 0.9287 0.9988 1 1 1 0.9997 0.9969 hom 8170.72 249 1 156877457 . T C 8170.72 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0063;MQ=59.10;MQ0=0;QD=32.81;VQSLOD=4.6477;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8170,650,0 1 156883546 156883546 A G exonic PEAR1 nonsynonymous SNV PEAR1:NM_001080471:exon21:c.A2707G:p.N903D 0.45 0.26 0.56 0.59 0.39 0.55 0.4337 0.2593 0.6125 0.5871 0.4086 0.3976 0.4040 0.4957 0.35 0.26 0.41 0.37 0.34 rs12137505 . . . . . . . . . . . . . 0.359 0.119 T 0.094 0.238 B 0.016 0.166 B 0.933 0.075 N 1 0.090 P 1.79 0.469 L -2.37 0.882 D -1.38 0.342 N 0.029 0.010 -0.991 0.324 T 0.201 0.558 T . . . -1.099 0.028 0.010 0.580 0.058 0.095 0.151 N c -1.359 -1.397 1.000 0.747 0.672 0.522 0 -3.91 0.039 -0.337 0.078 -0.351 0.070 0.000 0.063 0.002 0.062 6.234 0.198 . ENSG00000160838.9|ENSG00000132694.14 Adipose_Visceral_Omentum|Thyroid 0.4413 0.2574 0.5904 0.3901 0.5932 0.4014 0.3983 0.4227 0.4892 0.3659 0.2595 0.5919 0.4139 0.5981 0.3946 0.3819 0.3747 het 1230.85 83 1 156883546 . A G 1230.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.531;DP=83;Dels=0.00;FS=0.935;HRun=0;HaplotypeScore=1.7256;MQ=59.72;MQ0=0;MQRankSum=0.526;QD=14.83;ReadPosRankSum=1.549;VQSLOD=6.3247;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,50:83:99:1261,0,866 1 157062696 157062696 G T exonic ETV3L synonymous SNV ETV3L:NM_001004341:exon5:c.C831A:p.L277L 0.22 0.091 0.26 0.24 0.37 0.21 0.3100 0.1330 0.2416 0.2132 0.3153 0.3799 0.3244 0.2334 0.3 0.14 0.38 0.17 0.41 rs1176537 COSM3750446;COSM1162576 1(kidney);1(pancreas);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3079 0.1249 0.2533 0.3503 0.2090 0.3104 0.3786 0.3519 0.2345 0.3044 0.1377 0.2637 0.3543 0.2043 0.3324 0.4038 0.3596 het 680.71 48 1 157062696 . G T 680.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.415;DP=48;Dels=0.00;FS=2.763;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=0.454;QD=14.18;ReadPosRankSum=0.598;VQSLOD=6.2702;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,25:48:99:711,0,597 1 157062739 157062739 C G exonic ETV3L nonsynonymous SNV ETV3L:NM_001004341:exon5:c.G788C:p.G263A 0.15 0.1 0.13 0.21 0.2 0.12 0.1877 0.1166 0.0930 0.2467 0.2730 0.2086 0.2120 0.1479 0.17 0.11 0.2 0.13 0.082 rs12136960 COSM3750447;COSM3750448 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.031 0.450 D 0.734 0.408 P 0.187 0.345 B . . . 1 0.090 P 1.04 0.263 L 1.29 0.358 T -1.49 0.364 N 0.054 0.036 -1.047 0.152 T 0.021 0.091 T . . . 2.997 0.420 22.2 0.944 0.243 0.064 0.122 N c -0.695 -0.816 0.098 0.163 0.554 0.283 0 0.879 0.182 1.122 0.307 -0.422 0.059 0.003 0.159 0.000 0.016 6.740 0.225 . ENSG00000160838.9 Testis 0.1830 0.1096 0.0905 0.1802 0.2342 0.2697 0.2058 0.1749 0.1492 0.1803 0.1145 0.1396 0.1954 0.2234 0.2673 0.1952 0.1861 het 439.03 44 1 157062739 . C G 439.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.732;DP=44;Dels=0.00;FS=2.648;HRun=0;HaplotypeScore=0.8941;MQ=56.71;MQ0=0;MQRankSum=1.143;QD=9.98;ReadPosRankSum=0.577;VQSLOD=3.4664;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,20:44:99:469,0,678 1 157508882 157508882 C T exonic FCRL5 nonsynonymous SNV FCRL5:NM_001195388:exon7:c.G1396A:p.V466I,FCRL5:NM_031281:exon7:c.G1396A:p.V466I 0.69 0.32 0.81 0.79 0.85 0.85 0.8142 0.4015 0.8291 0.7772 0.8806 0.8622 0.8429 0.8609 0.7 0.41 0.85 0.64 0.7 rs6427384 COSM5827546;COSM3750457;COSM3750455;COSM3750456 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.342 0.139 T 0.056 0.403 B 0.027 0.370 B . . . 1 0.090 P 1.59 0.404 L 2.74 0.117 T -0.28 0.172 N 0.078 0.078 -0.965 0.382 T 0.008 0.026 T . . . 0.342 0.127 6.095 0.967 0.300 0.009 0.035 N c -1.276 -1.391 0.169 0.177 0.625 0.396 0 -1.74 0.076 -1.488 0.024 -3.268 0.001 0.000 0.063 0.000 0.016 3.012 0.056 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143297.14 Whole_Blood 0.8214 0.3878 0.8286 0.8764 0.7794 0.8842 0.8568 0.8387 0.8595 0.7273 0.3984 0.7983 0.8841 0.7963 0.8892 0.8584 0.8473 hom 3047.62 95 1 157508882 . C T 3047.62 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.12;MQ0=0;QD=32.08;VQSLOD=9.5889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3081,253,0 1 157509025 157509025 C T exonic FCRL5 nonsynonymous SNV FCRL5:NM_001195388:exon7:c.G1253A:p.G418D,FCRL5:NM_031281:exon7:c.G1253A:p.G418D 0.84 0.73 0.84 0.88 0.86 0.93 0.8667 0.7588 0.8524 0.8716 0.8835 0.8708 0.875 0.9184 0.82 0.76 0.86 0.83 0.75 rs2012199 COSM3750458;COSM3750460;COSM3750459;COSM5827547 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.144 B 0.004 0.173 B 0.280 0.038 N 1 0.090 P -0.665 0.020 N 3.47 0.052 T 0.48 0.030 N 0.066 0.067 -0.931 0.440 T 0.002 0.005 T . . . -1.369 0.020 0.004 0.078 0.001 0.001 0.008 N c -1.833 -1.837 0.690 0.226 0.0 0.000 3 -3.79 0.040 -1.012 0.037 -0.354 0.069 0.000 0.063 0.001 0.043 7.407 0.260 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143297.14 Whole_Blood 0.8671 0.7542 0.8527 0.8918 0.8754 0.8872 0.8655 0.8688 0.9172 0.8404 0.7534 0.8294 0.8940 0.8863 0.8904 0.8718 0.8747 hom 4222.13 129 1 157509025 . C T 4222.13 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6728;MQ=59.82;MQ0=0;QD=32.73;VQSLOD=8.4670;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4222,346,0 1 157514091 157514091 C T exonic FCRL5 nonsynonymous SNV FCRL5:NM_001195388:exon5:c.G805A:p.V269I,FCRL5:NM_031281:exon5:c.G805A:p.V269I 0.2 0.29 0.17 0.078 0.24 0.17 0.1923 0.2968 0.1197 0.0819 0.1946 0.2063 0.1993 0.1768 0.24 0.29 0.21 0.27 0.19 rs12036228 . . . . . . . . . . . . . 0.689 0.043 T 0.032 0.285 B 0.053 0.294 B . . . 1 0.090 P 0.675 0.164 N 2.7 0.122 T -0.37 0.158 N 0.049 0.037 -0.912 0.466 T 0.007 0.024 T . . . -0.280 0.070 0.736 0.750 0.105 0.004 0.019 N c -1.632 -1.679 0.003 0.101 0.732 0.924 0 -1.58 0.080 -2.218 0.013 -1.199 0.016 0.000 0.063 0.000 0.016 10.547 0.441 Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143297.14|ENSG00000143297.14 Spleen|Whole_Blood 0.1893 0.2963 0.1299 0.2273 0.0845 0.1947 0.2070 0.2014 0.1771 0.2200 0.2955 0.1355 0.2748 0.0854 0.2029 0.2012 0.1752 het 2743 242 1 157514091 . C T 2743 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.029;DP=242;DS;Dels=0.00;FS=2.200;HRun=0;HaplotypeScore=3.7658;MQ=59.73;MQ0=0;MQRankSum=0.093;QD=11.33;ReadPosRankSum=-0.618;VQSLOD=5.6981;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:134,108:242:99:2773,0,3693 1 157514097 157514097 A G exonic FCRL5 nonsynonymous SNV FCRL5:NM_001195388:exon5:c.T799C:p.Y267H,FCRL5:NM_031281:exon5:c.T799C:p.Y267H 0.71 0.41 0.73 0.91 0.82 0.76 0.7814 0.4658 0.7262 0.9030 0.8412 0.8212 0.7896 0.7694 0.7 0.47 0.81 0.64 0.71 rs6679793 COSM5764869;COSM5764872;COSM5764871;COSM5764870 1(large_intestine) . . . . . . . . . . . 0.597 0.066 T 0.0 0.067 B 0.001 0.093 B 0.012 0.013 N 1 0.090 P -1.35 0.007 N 2.82 0.109 T 1.14 0.012 N 0.011 0.002 -0.949 0.412 T 0.003 0.008 T . . . -1.630 0.014 0.002 0.205 0.007 0.009 0.035 N c -1.711 -1.735 0.253 0.187 0.732 0.924 0 -5.95 0.020 -2.058 0.015 -0.667 0.040 0.000 0.063 0.000 0.016 3.426 0.069 Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143297.14 Whole_Blood 0.7846 0.4577 0.7271 0.8082 0.9010 0.8486 0.8176 0.7941 0.7697 0.7268 0.4680 0.7267 0.8079 0.9047 0.8509 0.8211 0.8218 hom 8286.76 241 1 157514097 . A G 8286.76 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0319;MQ=59.73;MQ0=0;QD=34.38;VQSLOD=8.5380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:8286,650,0 1 157557701 157557701 G A exonic FCRL4 synonymous SNV FCRL4:NM_031282:exon4:c.C516T:p.D172D 0.5 0.36 0.54 0.68 0.43 0.54 0.4813 0.3821 0.5396 0.6894 0.5121 0.4464 0.4756 0.5195 0.41 0.38 0.43 0.47 0.27 rs2777962 COSM3750461 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4802 0.3779 0.5377 0.4804 0.6896 0.5085 0.4312 0.4697 0.5082 0.4571 0.3788 0.4976 0.4801 0.7002 0.5077 0.4603 0.4796 het 816.49 58 1 157557701 . G A 816.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.416;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=-0.234;QD=14.08;ReadPosRankSum=1.169;VQSLOD=6.4745;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:846,0,677 1 157668390 157668390 T C exonic FCRL3 nonsynonymous SNV FCRL3:NM_001320333:exon4:c.A82G:p.N28D,FCRL3:NM_052939:exon4:c.A82G:p.N28D 0.47 0.62 0.45 0.43 0.5 0.29 0.4503 0.6330 0.4549 0.4048 0.4235 0.4651 0.4249 0.3077 0.52 0.63 0.46 0.56 0.5 rs7522061 COSM4984965;COSM4984964 10(soft_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.268 0.152 N 1 0.090 P -0.46 0.027 N 2.73 0.119 T -0.95 0.253 N 0.009 0.002 -0.983 0.343 T 0.004 0.015 T . . . -2.900 0.001 0.001 0.497 0.042 0.004 0.022 N c -2.073 -2.166 1.000 0.747 0.549 0.223 0 -10.7 0.002 -0.572 0.059 -2.138 0.004 0.000 0.063 0.002 0.062 10.548 0.441 Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000160856.16|ENSG00000160856.16|ENSG00000227217.1|ENSG00000160856.16|ENSG00000227217.1|ENSG00000160856.16|ENSG00000227217.1|ENSG00000160856.16 Adipose_Subcutaneous|Esophagus_Mucosa|Lung|Lung|Spleen|Spleen|Whole_Blood|Whole_Blood 0.4474 0.6371 0.4569 0.4749 0.4030 0.4210 0.4642 0.4560 0.3157 0.4925 0.6295 0.4761 0.4433 0.3986 0.4344 0.4420 0.4357 het 1316.81 108 1 157668390 . T C 1316.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.723;DP=108;Dels=0.00;FS=0.803;HRun=0;HaplotypeScore=4.1363;MQ=59.40;MQ0=0;MQRankSum=1.170;QD=12.19;ReadPosRankSum=-0.051;VQSLOD=6.1359;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,52:108:99:1347,0,1416 1 157768000 157768000 G C exonic FCRL1 synonymous SNV FCRL1:NM_001159397:exon7:c.C948G:p.T316T,FCRL1:NM_001159398:exon8:c.C1065G:p.T355T,FCRL1:NM_052938:exon8:c.C1065G:p.T355T 0.23 0.34 0.2 0.19 0.24 0.14 0.2317 0.3089 0.2390 0.1689 0.2311 0.2464 0.1908 0.1506 0.27 0.31 0.24 0.27 0.23 rs3811024 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2276 0.3089 0.2347 0.2538 0.1732 0.2291 0.2421 0.2227 0.1489 0.2531 0.3029 0.2165 0.2417 0.1714 0.2487 0.2375 0.2327 het 698.75 58 1 157768000 . G C 698.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.385;DP=58;Dels=0.00;FS=0.982;HRun=0;HaplotypeScore=0.5784;MQ=59.36;MQ0=0;MQRankSum=-0.930;QD=12.05;ReadPosRankSum=0.711;VQSLOD=6.4455;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,32:58:99:729,0,638 1 157771880 157771880 C T exonic FCRL1 synonymous SNV FCRL1:NM_001159397:exon5:c.G711A:p.P237P,FCRL1:NM_001159398:exon5:c.G711A:p.P237P,FCRL1:NM_052938:exon5:c.G711A:p.P237P 0.39 0.064 0.51 0.52 0.49 0.5 0.4879 0.1260 0.5055 0.5445 0.5861 0.5177 0.5354 0.5111 0.39 0.14 0.51 0.35 0.5 rs4971154 COSM3750464;COSM3750465 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4958 0.1161 0.4947 0.5151 0.5424 0.5837 0.5176 0.5152 0.5073 0.4236 0.1253 0.4893 0.5167 0.5443 0.5658 0.5390 0.5245 het 1219.94 90 1 157771880 . C T 1219.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.756;DP=90;Dels=0.00;FS=2.819;HRun=1;HaplotypeScore=2.5550;MQ=59.79;MQ0=0;MQRankSum=0.892;QD=13.55;ReadPosRankSum=-1.998;VQSLOD=4.9562;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,44:90:99:1250,0,1276 1 158450314 158450314 A G exonic OR10R2 nonsynonymous SNV OR10R2:NM_001004472:exon1:c.A647G:p.E216G 0.5 0.48 0.44 0.57 0.56 0.42 0.5226 0.4831 0.4240 0.5540 0.6466 0.5529 0.5650 0.4258 0.52 0.48 0.53 0.5 0.53 rs6679056 COSM4415536 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.038 0.427 D 0.041 0.200 B 0.06 0.253 B . . . 1.000 0.090 P 2.125 0.592 M 8.41 0.003 T -5.94 0.891 D 0.217 0.266 -1.019 0.239 T 0.000 0.001 T . . . 3.133 0.436 22.6 0.996 0.723 0.150 0.185 N c -0.358 -0.362 0.047 0.147 0.603 0.348 0 4.37 0.517 1.770 0.379 0.982 0.598 0.017 0.192 0.267 0.231 8.317 0.311 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000197403.2 Lung 0.5216 0.4773 0.4392 0.5877 0.5553 0.6310 0.5440 0.5369 0.4303 0.5382 0.4763 0.4845 0.6133 0.5578 0.6252 0.5504 0.5827 het 2161.54 202 1 158450314 . A G 2161.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.690;DP=202;Dels=0.00;FS=1.140;HRun=1;HaplotypeScore=6.3671;MQ=59.49;MQ0=0;MQRankSum=0.040;QD=10.70;ReadPosRankSum=-0.320;VQSLOD=4.8549;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:116,86:202:99:2192,0,3040 1 158450382 158450382 C T exonic OR10R2 nonsynonymous SNV OR10R2:NM_001004472:exon1:c.C715T:p.L239F 0.43 0.38 0.38 0.57 0.46 0.38 0.4406 0.3893 0.3778 0.5529 0.5313 0.4486 0.4780 0.3878 0.42 0.39 0.43 0.43 0.47 rs1418843 . . . . . . . . . . . . . 0.018 0.506 D 0.336 0.316 B 0.195 0.349 B . . . 1 0.090 P 0.24 0.097 N 8.66 0.002 T -1.45 0.356 N 0.03 0.011 -1.140 0.014 T 0.000 0.000 T . . . 2.022 0.304 16.35 0.991 0.509 0.005 0.022 N c -1.118 -1.125 0.009 0.117 0.487 0.133 0 -1.39 0.085 -8.749 0.000 -0.626 0.042 0.000 0.063 0.314 0.240 1.324 0.020 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000163554.7|ENSG00000163554.7 Artery_Tibial|Muscle_Skeletal 0.4410 0.3847 0.3866 0.4271 0.5548 0.5267 0.4454 0.4435 0.3904 0.4434 0.3779 0.4258 0.4233 0.5563 0.5069 0.4536 0.4804 het 1194.18 107 1 158450382 . C T 1194.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.459;DP=107;Dels=0.00;FS=3.645;HRun=1;HaplotypeScore=1.8661;MQ=59.78;MQ0=0;MQRankSum=0.984;QD=11.16;ReadPosRankSum=-0.657;VQSLOD=6.2855;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,44:107:99:1224,0,1793 1 158517142 158517142 C T exonic OR6Y1 nonsynonymous SNV OR6Y1:NM_001005189:exon1:c.G754A:p.V252I 0.2 0.054 0.22 0.38 0.24 0.17 0.2317 0.0851 0.2467 0.3765 0.2985 0.2405 0.2852 0.1723 0.18 0.09 0.23 0.17 0.28 rs41273491 COSM170744 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.037 0.430 D 0.983 0.585 D 0.523 0.465 P 0.002 0.378 N 1 0.090 P 2.48 0.723 M 8.43 0.003 T -0.89 0.240 N 0.062 0.047 -0.967 0.379 T 0.000 0.002 T . . . 2.347 0.343 18.47 0.988 0.468 0.120 0.168 N c 0.000 -0.096 0.000 0.052 0.487 0.133 0 3.5 0.390 0.908 0.280 -0.341 0.072 0.003 0.159 0.195 0.216 6.228 0.198 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2357 0.0831 0.2477 0.2314 0.3792 0.2952 0.2357 0.2475 0.1739 0.2069 0.0793 0.2698 0.2517 0.3989 0.2938 0.2329 0.2341 het 2448.67 182 1 158517142 . C T 2448.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.936;DP=182;DS;Dels=0.00;FS=0.557;HRun=0;HaplotypeScore=4.7205;MQ=59.12;MQ0=0;MQRankSum=-0.545;QD=13.45;ReadPosRankSum=-0.061;VQSLOD=5.4189;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,92:182:99:2479,0,2377 1 158517353 158517353 G A exonic OR6Y1 synonymous SNV OR6Y1:NM_001005189:exon1:c.C543T:p.H181H 0.19 0.028 0.22 0.38 0.24 0.17 0.2294 0.0644 0.2444 0.3755 0.2988 0.2402 0.2808 0.1722 0.18 0.07 0.23 0.15 0.26 rs16840314 COSM4142876 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2334 0.0605 0.2456 0.2306 0.3780 0.2951 0.2349 0.2427 0.1738 0.2014 0.0595 0.2650 0.2517 0.4006 0.2934 0.2327 0.2336 het 964.03 66 1 158517353 . G A 964.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.508;DP=66;Dels=0.00;FS=1.088;HRun=1;HaplotypeScore=1.6828;MQ=59.37;MQ0=0;MQRankSum=-0.887;QD=14.61;ReadPosRankSum=-1.632;VQSLOD=6.0097;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,35:66:99:994,0,919 1 158549264 158549264 G A exonic OR10X1 synonymous SNV OR10X1:NM_001004477:exon1:c.C426T:p.I142I 0.5 0.57 0.41 0.59 0.47 0.41 0.4772 0.5749 0.4087 0.5720 0.5459 0.4646 0.5110 0.4353 0.49 0.57 0.44 0.55 0.49 rs863360 COSM424237 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4740 0.5736 0.4143 0.4787 0.5725 0.5419 0.4593 0.4790 0.4362 0.5085 0.5711 0.4522 0.4636 0.5709 0.5258 0.4657 0.5051 het 1426.36 85 1 158549264 . G A 1426.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.929;QD=16.78;ReadPosRankSum=-0.538;VQSLOD=12.7048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,49:85:99:1456,0,1099 1 158549420 158549420 C T exonic OR10X1 synonymous SNV OR10X1:NM_001004477:exon1:c.G270A:p.T90T 0.52 0.63 0.42 0.59 0.47 0.41 0.4816 0.6254 0.4095 0.5714 0.5456 0.4646 0.5143 0.4355 0.5 0.62 0.45 0.55 0.51 rs863361 COSM3747572 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4775 0.6232 0.4162 0.4789 0.5723 0.5421 0.4594 0.4799 0.4366 0.5235 0.6228 0.4547 0.4636 0.5723 0.5260 0.4660 0.5071 het 1678.11 127 1 158549420 . C T 1678.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.112;DP=127;Dels=0.00;FS=2.290;HRun=0;HaplotypeScore=2.9017;MQ=58.92;MQ0=0;MQRankSum=-1.001;QD=13.21;ReadPosRankSum=1.372;VQSLOD=5.4103;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,61:127:99:1708,0,1749 1 158549492 158549492 C T exonic OR10X1 stopgain OR10X1:NM_001004477:exon1:c.G198A:p.W66X 0.5 0.57 0.41 0.59 0.47 0.41 0.4769 0.5747 0.4076 0.5711 0.5461 0.4644 0.5132 0.4355 0.49 0.57 0.44 0.55 0.5 rs863362 COSM4415422 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . 0.008 0.310 N 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 9.071 0.961 35 0.989 0.470 0.168 0.193 N c 0.623 0.385 0.000 0.057 0.487 0.133 0 4.18 0.483 -1.337 0.027 0.935 0.490 0.000 0.063 0.964 0.448 13.070 0.583 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000163554.7 Artery_Tibial 0.4740 0.5736 0.4139 0.4793 0.5724 0.5418 0.4593 0.4791 0.4364 0.5080 0.5694 0.4535 0.4636 0.5714 0.5261 0.4654 0.5041 het 1553.14 121 1 158549492 . C T 1553.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.483;DP=121;Dels=0.00;FS=3.266;HRun=0;HaplotypeScore=0.7887;MQ=59.62;MQ0=0;MQRankSum=0.394;QD=12.84;ReadPosRankSum=1.349;VQSLOD=6.5058;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,59:121:99:1583,0,1716 1 158549511 158549511 A G exonic OR10X1 nonsynonymous SNV OR10X1:NM_001004477:exon1:c.T179C:p.I60T 0.52 0.63 0.42 0.59 0.47 0.41 0.4817 0.6257 0.4092 0.5722 0.5463 0.4647 0.5143 0.4355 0.5 0.62 0.45 0.55 0.51 rs863363 COSM4415674 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.694 0.042 T 0.0 0.026 B 0.0 0.013 B 0.978 0.078 N 1 0.090 P 0.025 0.080 N 5.28 0.011 T 0.77 0.020 N 0.044 0.024 -0.996 0.310 T 0.001 0.003 T . . . -1.487 0.017 0.003 0.233 0.010 0.004 0.020 N c -1.131 -1.059 0.000 0.038 0.487 0.133 0 3.2 0.357 -1.264 0.029 0.138 0.222 0.000 0.063 0.882 0.370 4.245 0.100 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000163554.7 Artery_Tibial 0.4776 0.6233 0.4160 0.4788 0.5726 0.5420 0.4596 0.4803 0.4364 0.5230 0.6217 0.4547 0.4667 0.5705 0.5261 0.4658 0.5071 het 2034.84 132 1 158549511 . A G 2034.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.775;DP=132;Dels=0.00;FS=2.245;HRun=1;HaplotypeScore=3.3269;MQ=59.48;MQ0=0;MQRankSum=0.515;QD=15.42;ReadPosRankSum=-0.887;VQSLOD=6.1686;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,75:132:99:2065,0,1476 1 158577109 158577109 A C exonic OR10Z1 nonsynonymous SNV OR10Z1:NM_001004478:exon1:c.A881C:p.N294T 0.24 0.066 0.3 0.49 0.26 0.16 0.2637 0.0935 0.3494 0.4648 0.3466 0.2640 0.2941 0.1694 0.2 0.098 0.25 0.2 0.29 rs857685 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.991 0.782 D 0.001 0.406 N 1.000 0.186 P 1.66 0.426 L 0.84 0.475 T -4.89 0.814 D 0.208 0.255 -0.782 0.562 T 0.151 0.479 T . . . 4.058 0.545 23.7 0.994 0.622 0.883 0.479 D c 0.528 0.512 0.177 0.178 0.487 0.133 0 5.19 0.713 4.750 0.616 1.194 0.916 0.998 0.411 0.995 0.604 14.165 0.649 . . . 0.2716 0.0892 0.3476 0.2354 0.4769 0.3422 0.2579 0.2782 0.1730 0.2338 0.0895 0.3604 0.2483 0.4937 0.3382 0.2566 0.2612 het 4038.08 243 1 158577109 . A C 4038.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.192;DP=243;DS;Dels=0.00;FS=5.969;HRun=0;HaplotypeScore=4.4702;MQ=59.24;MQ0=0;MQRankSum=0.324;QD=16.62;ReadPosRankSum=0.202;VQSLOD=4.4502;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,116:243:99:3384,0,3502 1 158582646 158582646 T C exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon51:c.A7095G:p.A2365A 0.5 0.42 0.52 0.63 0.56 0.42 0.5385 0.4234 0.5345 0.6071 0.6489 0.5635 0.5744 0.4265 0.51 0.44 0.54 0.49 0.57 rs2251969 COSM5008334 1(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Hereditary_pyropoikilocytosis|Elliptocytosis RCV000252916.1|RCV000303847.1|RCV000339855.1|RCV000395962.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|CN239472|C0520739:266140:9434008|HP:0004445:C0427480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5418 0.4208 0.5439 0.5803 0.6111 0.6346 0.5552 0.5578 0.4302 0.5331 0.4155 0.5610 0.5861 0.6126 0.6305 0.5642 0.5871 het 985.52 116 1 158582646 . T C 985.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.499;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.7687;MQ=58.37;MQ0=0;MQRankSum=-0.074;QD=8.50;ReadPosRankSum=-1.012;VQSLOD=3.6858;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,43:116:99:1016,0,1989 1 158607935 158607935 T G exonic SPTA1 nonsynonymous SNV SPTA1:NM_003126:exon36:c.A5077C:p.K1693Q 0.25 0.1 0.3 0.44 0.28 0.17 0.2737 0.1201 0.3649 0.4281 0.3464 0.2767 0.3144 0.1776 0.22 0.12 0.26 0.22 0.3 rs857725 COSM5009589 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Elliptocytosis|Hereditary_pyropoikilocytosis RCV000249864.1|RCV000306625.1|RCV000345998.1|RCV000394217.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239472|HP:0004445:C0427480|C0520739:266140:9434008 . . . . . . 0.256 0.168 T 0.0 0.026 B 0.004 0.093 B 0.790 0.094 N 1 0.090 P -0.345 0.033 N 1.41 0.334 T 0.74 0.020 N 0.027 0.009 -1.006 0.282 T 0.016 0.065 T . . . -1.169 0.026 0.007 0.498 0.042 0.100 0.155 N c -1.502 -1.530 0.097 0.163 0.554 0.246 0 -5.37 0.025 -0.014 0.125 -2.171 0.004 0.000 0.063 0.009 0.108 3.751 0.080 . . . 0.2798 0.1185 0.3631 0.2381 0.4346 0.3430 0.2713 0.2907 0.1792 0.2444 0.1149 0.3652 0.2285 0.4540 0.3397 0.2673 0.2658 het 1079.64 81 1 158607935 . T G 1079.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.036;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7876;MQ=59.43;MQ0=0;MQRankSum=0.531;QD=13.33;ReadPosRankSum=1.264;VQSLOD=6.5498;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:1110,0,1242 1 158612236 158612236 A G exonic SPTA1 nonsynonymous SNV SPTA1:NM_003126:exon33:c.T4702C:p.C1568R 0.59 0.69 0.56 0.64 0.59 0.46 0.5789 0.6652 0.5565 0.6143 0.6550 0.5826 0.6125 0.4776 0.6 0.68 0.56 0.64 0.59 rs863931 COSM5003622 1(pancreas);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Hereditary_pyropoikilocytosis|Elliptocytosis RCV000244890.1|RCV000288918.1|RCV000325129.1|RCV000383306.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|CN239472|C0520739:266140:9434008|HP:0004445:C0427480 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.009 0.307 N 0.997 0.229 P -2.8 0.000 N 0.87 0.464 T 4.11 0.001 N 0.067 0.072 -0.946 0.416 T 0.008 0.028 T . . . -1.334 0.021 0.004 0.221 0.009 0.110 0.162 N c -1.280 -1.120 0.005 0.108 0.554 0.246 0 1.01 0.190 0.976 0.289 0.138 0.222 0.735 0.287 0.314 0.240 10.075 0.413 . ENSG00000163554.7 Muscle_Skeletal 0.5784 0.6650 0.5648 0.6413 0.6167 0.6422 0.5727 0.5911 0.4805 0.6122 0.6602 0.5825 0.6324 0.6214 0.6409 0.5774 0.6194 het 2063.62 219 1 158612236 . A G 2063.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.213;DP=219;DS;Dels=0.00;FS=1.060;HRun=0;HaplotypeScore=2.7719;MQ=59.74;MQ0=0;MQRankSum=0.745;QD=9.42;ReadPosRankSum=0.334;VQSLOD=6.3387;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,88:219:99:2094,0,3377 1 158619728 158619728 A C exonic SPTA1 nonsynonymous SNV SPTA1:NM_003126:exon25:c.T3487G:p.S1163A 0.99 0.98 1. 1. 1. 1. 0.9983 0.9790 0.9994 1 1 1 1 0.9999 0.99 0.98 1. 0.97 0.93 rs2482965 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Elliptocytosis|Spherocytosis\x2c_Recessive|Hereditary_pyropoikilocytosis RCV000251930.1|RCV000268434.1|RCV000321216.1|RCV000354195.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0004445:C0427480|CN239472|C0520739:266140:9434008 . . . . . . 0.488 0.080 T 0.0 0.026 B 0.001 0.040 B 0.869 0.088 N 1 0.090 P -0.69 0.019 N -0.22 0.665 T -0.65 0.189 N 0.012 0.001 -1.062 0.113 T 0.030 0.130 T . . . 0.038 0.097 2.956 0.953 0.260 0.098 0.153 N c -1.135 -1.005 0.007 0.113 0.487 0.133 0 -1.91 0.072 0.317 0.191 -0.667 0.040 0.889 0.309 0.543 0.278 6.955 0.236 . . . 0.9984 0.9775 0.9990 1 1 1 1.0000 0.9996 0.9999 0.9936 0.9773 1 1 1 1 1 0.9990 hom 947.60 33 1 158619728 . A C 947.60 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.72;VQSLOD=13.1617;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:72.24:981,72,0 1 158626378 158626378 C T exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon20:c.G2874A:p.L958L 0.42 0.79 0.36 0.41 0.25 0.16 0.3093 0.7139 0.3703 0.4122 0.3348 0.2616 0.3133 0.1549 0.39 0.7 0.25 0.49 0.34 rs857691 COSM5008335 2(haematopoietic_and_lymphoid_tissue);6(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Elliptocytosis|Hereditary_pyropoikilocytosis RCV000246681.1|RCV000285271.1|RCV000323972.1|RCV000372788.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239472|HP:0004445:C0427480|C0520739:266140:9434008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3067 0.7212 0.3719 0.2389 0.4254 0.3331 0.2544 0.2975 0.1571 0.4052 0.7057 0.3852 0.2285 0.4462 0.3308 0.2552 0.2949 het 2419.49 215 1 158626378 . C T 2419.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.971;DP=215;Dels=0.00;FS=5.688;HRun=0;HaplotypeScore=3.5749;MQ=59.07;MQ0=0;MQRankSum=-2.053;QD=11.25;ReadPosRankSum=0.508;VQSLOD=3.6665;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,103:215:99:2449,0,2886 1 158631171 158631171 A C exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon18:c.T2493G:p.L831L 0.24 0.14 0.3 0.41 0.25 0.16 0.2624 0.1761 0.3445 0.4134 0.3398 0.2608 0.2867 0.1521 0.23 0.18 0.24 0.25 0.31 rs2518493 COSM5008336 2(haematopoietic_and_lymphoid_tissue);5(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Hereditary_pyropoikilocytosis|Elliptocytosis RCV000243041.1|RCV000266843.1|RCV000302197.1|RCV000361554.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|CN239472|C0520739:266140:9434008|HP:0004445:C0427480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2674 0.1733 0.3434 0.2217 0.4254 0.3377 0.2540 0.2716 0.1547 0.2532 0.1719 0.3549 0.2185 0.4460 0.3334 0.2554 0.2668 het 1255.40 125 1 158631171 . A C 1255.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.936;DP=125;Dels=0.00;FS=1.577;HRun=0;HaplotypeScore=1.8893;MQ=58.05;MQ0=0;MQRankSum=-0.581;QD=10.04;ReadPosRankSum=-0.387;VQSLOD=5.2262;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,46:125:99:1285,0,2195 1 158647495 158647495 A T exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon7:c.T942A:p.A314A 0.96 0.84 0.99 1. 1. 1. 0.9850 0.8605 0.9925 1 0.9867 0.9962 0.9922 0.9994 0.96 0.88 1. 0.96 0.97 rs325996 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Hereditary_pyropoikilocytosis|Elliptocytosis|Spherocytosis\x2c_Recessive RCV000245233.1|RCV000295281.1|RCV000352376.1|RCV000393758.1 MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen|MedGen CN169374|C0520739:266140:9434008|HP:0004445:C0427480|CN239472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9868 0.8581 0.9918 0.9989 1 0.9856 0.9964 0.9915 0.9994 0.9564 0.8613 0.9893 1 1 0.9874 0.9952 0.9857 hom 1218.20 35 1 158647495 . A T 1218.20 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=34.81;VQSLOD=9.2099;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:96.31:1251,96,0 1 158647522 158647522 A G exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon7:c.T915C:p.S305S 0.45 0.23 0.51 0.58 0.62 0.43 0.5449 0.2744 0.5409 0.5476 0.6343 0.5990 0.5859 0.4510 0.48 0.28 0.57 0.45 0.61 rs703121 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Recessive|Hereditary_pyropoikilocytosis|Elliptocytosis RCV000253635.1|RCV000279926.1|RCV000337268.1|RCV000405166.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|CN239472|C0520739:266140:9434008|HP:0004445:C0427480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5500 0.2658 0.5448 0.5794 0.5499 0.6289 0.5960 0.5805 0.4592 0.5122 0.2803 0.5561 0.5497 0.5537 0.6304 0.6065 0.5890 het 622.51 53 1 158647522 . A G 622.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.405;DP=53;Dels=0.00;FS=4.031;HRun=1;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;MQRankSum=-0.134;QD=11.75;ReadPosRankSum=2.153;VQSLOD=5.2807;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:653,0,755 1 158655036 158655036 G A exonic SPTA1 synonymous SNV SPTA1:NM_003126:exon2:c.C126T:p.V42V 0.97 0.89 1. 1. 1. 1. 0.9920 0.9089 0.9954 1 1 0.9998 0.9978 0.9997 0.97 0.92 1. 0.97 0.99 rs435080 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Hereditary_pyropoikilocytosis|Spherocytosis\x2c_Recessive|Elliptocytosis RCV000253444.1|RCV000295740.1|RCV000334391.1|RCV000391731.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen|Human_Phenotype_Ontology:MedGen CN169374|C0520739:266140:9434008|CN239472|HP:0004445:C0427480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9930 0.9052 0.9947 1 1 1 0.9997 0.9956 0.9996 0.9740 0.9094 0.9928 1 1 1 0.9999 0.9939 hom 2236.25 68 1 158655036 . G A 2236.25 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.07;MQ0=0;QD=32.89;VQSLOD=8.3479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2269,181,0 1 158669662 158669662 G A exonic OR6K2 synonymous SNV OR6K2:NM_001005279:exon1:c.C781T:p.L261L 0.0042 0.0008 . . 0.019 0.001 0.0101 0.0024 0.0020 0 0.0262 0.0146 0.0077 0.0016 0.01 0.0025 0.014 . 0.016 rs41273535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0104 0.0029 0.0038 0.0004 0 0.0284 0.0148 0.0091 0.0016 0.0114 0.0031 0.0060 0 0 0.0275 0.0141 0.0143 het 1423.40 97 1 158669662 . G A 1423.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.006;DP=97;Dels=0.00;FS=8.470;HRun=1;HaplotypeScore=6.4102;MQ=59.02;MQ0=0;MQRankSum=1.461;QD=14.67;ReadPosRankSum=-0.470;VQSLOD=3.5965;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,52:97:99:1453,0,1234 1 158687163 158687163 G A exonic OR6K3 nonsynonymous SNV OR6K3:NM_001005327:exon1:c.C743T:p.P248L 0.39 0.48 0.43 0.45 0.4 0.17 0.3888 0.4784 0.4221 0.4282 0.4811 0.3981 0.4095 0.2133 0.41 0.48 0.38 0.37 0.41 rs28568406 COSM3750480 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P -2.26 0.001 N 1.43 0.330 T 3.77 0.001 N 0.064 0.056 -0.941 0.425 T 0.004 0.012 T . . . 1.641 0.259 14.08 0.123 0.002 0.003 0.015 N c -1.558 -1.382 0.005 0.109 0.487 0.133 0 3.77 0.423 0.020 0.133 0.110 0.204 0.000 0.063 0.006 0.095 8.466 0.319 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3878 0.4753 0.4151 0.3519 0.4363 0.4746 0.3918 0.3992 0.2192 0.4348 0.4694 0.4117 0.37 0.4526 0.4886 0.4043 0.4124 het 1577.09 115 1 158687163 . G A 1577.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.789;DP=115;Dels=0.00;FS=12.561;HRun=0;HaplotypeScore=0.8941;MQ=59.07;MQ0=0;MQRankSum=0.960;QD=13.71;ReadPosRankSum=-0.809;VQSLOD=3.7289;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,55:115:99:1607,0,1691 1 158687224 158687224 G A exonic OR6K3 nonsynonymous SNV OR6K3:NM_001005327:exon1:c.C682T:p.P228S 0.28 0.09 0.39 0.45 0.39 0.17 0.3563 0.1266 0.4067 0.4274 0.4803 0.3971 0.3918 0.2122 0.29 0.13 0.38 0.26 0.39 rs857703 COSM146654 1(stomach);1(prostate);3(large_intestine) . . . . . . . . . . . 0.103 0.301 T 0.08 0.230 B 0.05 0.239 B . . . 1 0.090 P 1.025 0.256 L 1.23 0.369 T -3.22 0.692 D 0.038 0.022 -1.062 0.114 T 0.032 0.135 T . . . 0.953 0.185 10.39 0.952 0.257 0.036 0.087 N c -0.816 -0.871 0.007 0.113 0.487 0.133 0 0.813 0.178 0.796 0.265 0.882 0.386 0.001 0.137 0.005 0.090 7.996 0.293 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3623 0.1198 0.3988 0.3520 0.4360 0.4743 0.3906 0.3849 0.2182 0.3357 0.1246 0.3954 0.3667 0.4522 0.4888 0.4028 0.3951 het 1765.66 125 1 158687224 . G A 1765.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.577;DP=125;Dels=0.00;FS=3.325;HRun=2;HaplotypeScore=1.8633;MQ=59.63;MQ0=0;MQRankSum=-0.349;QD=14.13;ReadPosRankSum=1.413;VQSLOD=6.2600;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,67:125:99:1796,0,1712 1 158735595 158735595 C T exonic OR6N1 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.G878A:p.R293H 0.67 0.78 0.78 0.62 0.72 0.43 0.6795 0.7778 0.7928 0.6194 0.7229 0.7031 0.6729 0.4570 0.74 0.78 0.72 0.61 0.72 rs857824 COSM1179737 1(prostate);1(large_intestine) . . . . . . . . . . . 0.016 0.518 D 0.217 0.285 B 0.041 0.226 B 0.006 0.323 N 0.627 0.307 P 3.84 0.958 H 1.01 0.411 T -4.62 0.791 D 0.112 0.147 -0.932 0.439 T 0.085 0.332 T . . . 4.694 0.629 24.6 0.996 0.748 0.233 0.218 N c -0.026 -0.018 0.005 0.110 0.487 0.133 0 4.01 0.457 1.416 0.341 0.927 0.437 0.002 0.151 0.885 0.372 8.738 0.335 . . . 0.6867 0.7787 0.7954 0.6586 0.6134 0.7312 0.7089 0.6893 0.4589 0.7175 0.7730 0.7912 0.6523 0.5957 0.7160 0.6987 0.6745 hom 7804.33 249 1 158735595 . C T 7804.33 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.6795;MQ=59.35;MQ0=0;QD=31.22;VQSLOD=5.1855;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7803,638,0 1 158735691 158735691 T C exonic OR6N1 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.A782G:p.Q261R 0.67 0.78 0.78 0.62 0.72 0.43 0.6795 0.7779 0.7929 0.6201 0.7225 0.7032 0.6729 0.4565 0.74 0.78 0.72 0.61 0.7 rs857825 COSM1179738 1(pancreas);1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.414 N 1 0.090 P -0.75 0.017 N 1.25 0.365 T 2.62 0.002 N 0.068 0.064 -0.987 0.334 T 0.009 0.034 T . . . -1.411 0.019 0.003 0.164 0.004 0.028 0.075 N c -1.108 -0.918 0.018 0.131 0.487 0.133 0 4.74 0.596 2.805 0.474 0.069 0.176 0.047 0.211 0.016 0.126 12.189 0.534 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6866 0.7788 0.7958 0.6586 0.6135 0.7306 0.7089 0.6893 0.4583 0.7174 0.7739 0.7902 0.6567 0.5944 0.7153 0.6981 0.6755 hom 7812.94 246 1 158735691 . T C 7812.94 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2171;MQ=59.74;MQ0=0;QD=31.76;VQSLOD=6.7983;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7811,653,0 1 158735740 158735740 A G exonic OR6N1 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.T733C:p.F245L 0.67 0.78 0.78 0.62 0.72 0.43 0.6796 0.7780 0.7928 0.6203 0.7225 0.7033 0.6729 0.4571 0.74 0.78 0.72 0.61 0.72 rs857826 COSM1127314 11(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.411 N 0.999 0.217 P -1.91 0.002 N 1.71 0.267 T 3.38 0.001 N 0.053 0.035 -0.948 0.414 T 0.004 0.014 T . . . 0.813 0.172 9.546 0.378 0.025 0.058 0.116 N c -0.878 -0.572 0.002 0.092 0.487 0.133 0 4.74 0.596 2.860 0.478 0.138 0.222 1.000 0.715 0.423 0.258 12.189 0.534 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6867 0.7789 0.7957 0.6587 0.6136 0.7307 0.7090 0.6893 0.4589 0.7173 0.7733 0.7895 0.6567 0.5947 0.7155 0.6982 0.6765 hom 8389.18 241 1 158735740 . A G 8389.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.459;DP=241;DS;Dels=0.00;FS=3.835;HRun=1;HaplotypeScore=7.2016;MQ=59.64;MQ0=0;MQRankSum=1.675;QD=34.81;ReadPosRankSum=1.603;VQSLOD=4.2890;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,240:241:99:8355,626,0 1 158735892 158735892 A G exonic OR6N1 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.T581C:p.I194T 0.67 0.78 0.78 0.62 0.72 0.43 0.6796 0.7776 0.7932 0.6193 0.7223 0.7032 0.6729 0.4572 0.74 0.78 0.72 0.61 0.61 rs857827 COSM1559899 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.623 0.053 T 0.001 0.067 B 0.002 0.063 B 0.146 0.181 N 1.000 0.198 P 0.42 0.125 N 8.6 0.002 T -1.7 0.404 N 0.094 0.101 -1.050 0.145 T 0.000 0.000 T . . . 0.446 0.137 7.002 0.741 0.102 0.199 0.206 N c -0.598 -0.499 0.000 0.058 0.487 0.133 0 3.65 0.408 0.664 0.246 1.199 0.960 0.000 0.063 0.012 0.117 4.054 0.092 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6867 0.7786 0.7958 0.6587 0.6136 0.7307 0.7089 0.6894 0.4590 0.7173 0.7733 0.7912 0.6523 0.5943 0.7150 0.6984 0.6765 hom 8106.31 248 1 158735892 . A G 8106.31 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4613;MQ=59.42;MQ0=0;QD=32.69;VQSLOD=8.1037;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,247:248:99:8081,623,0 1 158736215 158736215 G A exonic OR6N1 synonymous SNV OR6N1:NM_001005185:exon1:c.C258T:p.L86L 0.81 0.73 0.93 0.91 0.95 0.6 0.8701 0.7437 0.9563 0.9184 0.9256 0.9203 0.8579 0.6396 0.86 0.74 0.93 0.8 0.89 rs6666753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8787 0.7403 0.9575 0.8676 0.9179 0.9232 0.9239 0.8962 0.6441 0.8692 0.7456 0.9388 0.8477 0.9306 0.9267 0.9166 0.8819 hom 4478.87 138 1 158736215 . G A 4478.87 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7480;MQ=58.51;MQ0=0;QD=32.46;VQSLOD=9.4688;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4478,361,0 1 158736445 158736445 C T exonic OR6N1 nonsynonymous SNV OR6N1:NM_001005185:exon1:c.G28A:p.A10T 0.25 0.018 0.33 0.42 0.33 0.22 0.3058 0.0590 0.3737 0.4379 0.3754 0.3237 0.3399 0.2325 0.23 0.064 0.32 0.15 0.27 rs1864346 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.044 0.236 N 1.000 0.090 P -1.55 0.005 N 6.26 0.006 T 2.17 0.003 N 0.037 0.022 -1.092 0.053 T 0.000 0.000 T . . . 0.377 0.130 6.412 0.230 0.010 0.006 0.028 N c -1.308 -1.079 0.000 0.035 0.487 0.133 0 2.52 0.294 -0.071 0.114 0.141 0.225 0.000 0.063 0.938 0.411 3.436 0.070 . . . 0.3061 0.0552 0.3652 0.3159 0.4211 0.3777 0.3155 0.2991 0.2156 0.2531 0.0568 0.3577 0.2967 0.4211 0.3728 0.3108 0.3122 het 764.92 64 1 158736445 . C T 764.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.472;DP=64;Dels=0.00;FS=2.392;HRun=1;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;MQRankSum=0.967;QD=11.95;ReadPosRankSum=-0.994;VQSLOD=6.4856;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,31:64:99:795,0,890 1 158813819 158813819 A G exonic MNDA synonymous SNV MNDA:NM_002432:exon4:c.A477G:p.P159P 0.53 0.31 0.54 0.7 0.58 0.59 0.5601 0.3666 0.4990 0.6692 0.6326 0.5771 0.5518 0.5702 0.5 0.37 0.57 0.48 0.51 rs857870 COSM3750482 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5624 0.3621 0.5080 0.5858 0.6704 0.6336 0.5719 0.5443 0.5703 0.5279 0.3693 0.5048 0.5993 0.6762 0.6442 0.5709 0.6186 het 2673.58 250 1 158813819 . A G 2673.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.853;DP=250;DS;Dels=0.00;FS=0.490;HRun=2;HaplotypeScore=1.9949;MQ=58.18;MQ0=0;MQRankSum=3.206;QD=10.69;ReadPosRankSum=-1.779;VQSLOD=3.1065;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:2704,0,3579 1 158985673 158985673 G A exonic IFI16 nonsynonymous SNV IFI16:NM_001206567:exon3:c.G277A:p.A93T,IFI16:NM_005531:exon3:c.G277A:p.A93T 0.0024 . 0.0058 . 0.005 0.0031 0.0054 0.0013 0.0030 0 0.0023 0.0077 0.0066 0.0049 0.0052 0.0018 0.0069 . 0.025 rs116270651 . . . . . . . . . . . . . 1.0 0.053 T 0.003 0.407 B 0.001 0.379 B . . . 1 0.090 N -0.695 0.019 N 2.03 0.210 T 1.4 0.034 N 0.04 0.176 -1.023 0.229 T 0.004 0.013 T 0.004 0.084 T 0.680 0.159 8.695 0.569 0.055 0.000 0.003 N c -1.583 -1.593 1.000 0.747 0.731 0.878 0 -0.242 0.123 -1.397 0.026 0.073 0.181 0.000 0.063 0.000 0.016 2.325 0.039 . . . 0.0053 0.0012 0.0039 0.0004 0 0.0021 0.0082 0.0058 0.0051 0.0044 0.0014 0.0012 0 0 0.0009 0.0077 0.0041 het 1752.14 168 1 158985673 . G A 1752.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.894;DP=168;Dels=0.00;FS=2.002;HRun=1;HaplotypeScore=5.2745;MQ=59.64;MQ0=0;MQRankSum=-0.760;QD=10.43;ReadPosRankSum=0.513;VQSLOD=4.1303;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,73:168:99:1782,0,2403 1 158986477 158986477 G C exonic IFI16 nonsynonymous SNV IFI16:NM_005531:exon4:c.G536C:p.S179T 0.64 0.41 0.84 0.59 0.79 0.68 0.7286 0.4465 0.8677 0.6444 0.7823 0.7685 0.7621 0.6683 0.67 0.46 0.78 0.63 0.73 rs866484 . . . . . . . . . . . . . 1.0 0.039 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -1.79 0.003 N 2.26 0.284 T 1.0 0.017 N 0.006 0.115 -0.919 0.458 T 0.003 0.011 T . . . -1.660 0.013 0.002 0.086 0.001 0.002 0.011 N c -1.674 -1.662 1.000 0.747 0.722 0.854 0 0.384 0.154 -1.708 0.020 -0.629 0.042 0.000 0.063 0.000 0.016 4.615 0.117 . . . 0.7434 0.4405 0.8660 0.7595 0.6375 0.7787 0.7756 0.7669 0.6685 0.6694 0.4500 0.8556 0.7583 0.6211 0.7756 0.7598 0.7418 het 2004.57 154 1 158986477 . G C 2004.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.062;DP=154;Dels=0.00;FS=2.909;HRun=0;HaplotypeScore=4.1590;MQ=59.24;MQ0=0;MQRankSum=1.094;QD=13.02;ReadPosRankSum=-0.658;VQSLOD=5.8186;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,85:154:99:2035,0,1748 1 159002377 159002377 C A exonic IFI16 nonsynonymous SNV IFI16:NM_001206567:exon6:c.C1057A:p.R353S,IFI16:NM_005531:exon7:c.C1225A:p.R409S 0.63 0.32 0.87 0.59 0.84 0.71 0.7674 0.4021 0.8913 0.6382 0.8596 0.8191 0.8172 0.7299 0.69 0.43 0.82 0.59 0.8 rs1057027 COSM3997001;COSM3997002 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P -1.32 0.007 N 3.8 0.039 T 1.73 0.006 N 0.03 0.037 -0.924 0.451 T 0.006 0.020 T . . . 0.620 0.153 8.293 0.236 0.010 0.002 0.011 N c -1.112 -1.166 0.827 0.246 0.707 0.730 0 2.15 0.265 0.210 0.171 -0.257 0.089 0.001 0.137 0.001 0.043 5.220 0.146 HIN-200/IF120x|Nucleic acid-binding\x2c OB-fold ENSG00000163568.9 Whole_Blood 0.7815 0.3951 0.8902 0.8119 0.6302 0.8534 0.8208 0.8142 0.7292 0.6919 0.4139 0.8780 0.81 0.6152 0.8525 0.8045 0.7904 hom 2503.85 81 1 159002377 . C A 2503.85 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=56.19;MQ0=1;QD=30.91;VQSLOD=7.1470;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2537,205,0 1 159002389 159002389 T A exonic IFI16 nonsynonymous SNV IFI16:NM_001206567:exon6:c.T1069A:p.Y357N,IFI16:NM_005531:exon7:c.T1237A:p.Y413N 0.63 0.32 0.87 0.59 0.84 0.71 0.7674 0.4023 0.8912 0.6376 0.8594 0.8191 0.8172 0.7299 0.69 0.43 0.82 0.59 0.8 rs1057028 COSM3997004;COSM3997003 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.734 0.038 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.1 0.010 N 3.73 0.040 T 0.54 0.028 N 0.018 0.023 -0.927 0.446 T 0.001 0.003 T . . . -0.806 0.040 0.041 0.227 0.009 0.007 0.030 N c -1.874 -1.933 0.995 0.338 0.707 0.730 0 -4.3 0.034 -2.660 0.009 -1.901 0.006 0.000 0.063 0.000 0.016 0.105 0.000 HIN-200/IF120x|Nucleic acid-binding\x2c OB-fold ENSG00000163568.9 Whole_Blood 0.7815 0.3951 0.8902 0.8118 0.6301 0.8532 0.8208 0.8138 0.7292 0.6919 0.4143 0.8780 0.8054 0.6142 0.8525 0.8044 0.7900 hom 2846.07 93 1 159002389 . T A 2846.07 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5226;MQ=55.90;MQ0=1;QD=30.60;VQSLOD=4.3349;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2879,229,0 1 159169641 159169641 T C exonic CADM3 synonymous SNV CADM3:NM_001127173:exon8:c.T1053C:p.L351L,CADM3:NM_001346510:exon8:c.T915C:p.L305L,CADM3:NM_021189:exon9:c.T1155C:p.L385L 0.83 0.91 0.72 0.93 0.74 0.79 0.7743 0.8885 0.7773 0.9296 0.7612 0.7380 0.7721 0.7712 0.79 0.88 0.74 0.85 0.76 rs862999 COSM5447927 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7705 0.8906 0.7677 0.7615 0.9323 0.7486 0.7354 0.7607 0.7704 0.7941 0.8897 0.7524 0.7881 0.9307 0.7415 0.7397 0.7719 het 1266.13 103 1 159169641 . T C 1266.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.073;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.41;MQ0=0;MQRankSum=0.308;QD=12.29;ReadPosRankSum=-0.810;VQSLOD=6.9016;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,51:103:99:1296,0,1447 1 159175354 159175354 G A exonic ACKR1 nonsynonymous SNV ACKR1:NM_001122951:exon1:c.G131A:p.G44D,ACKR1:NM_002036:exon2:c.G125A:p.G42D 0.54 0.98 0.54 0.077 0.6 0.36 0.5235 0.9268 0.4208 0.0507 0.5059 0.5756 0.5431 0.3841 0.69 0.92 0.58 0.54 0.57 rs12075 COSM3735936;COSM3735937 1(skin) Benign DUFFY_BLOOD_GROUP_SYSTEM\x2c_FYA/FYB_POLYMORPHISM RCV000000005.2 . . Inflammatory biomarkers . . 22291609 rs12075 4E-51 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.355 0.007 N 4.47 0.223 T 1.46 0.011 N 0.027 0.352 -0.945 0.418 T 0.004 0.014 T . . . -1.377 0.020 0.004 0.480 0.039 0.007 0.030 N c -1.561 -1.534 1.000 0.747 0.657 0.484 0 -1.07 0.094 0.192 0.168 0.043 0.157 0.000 0.063 0.002 0.062 3.101 0.059 . . . 0.5122 0.9347 0.4338 0.5486 0.0494 0.5101 0.5794 0.5651 0.3837 0.6375 0.9228 0.4773 0.5331 0.0445 0.5192 0.5795 0.5532 het 1694.65 133 1 159175354 . G A 1694.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.276;DP=133;Dels=0.00;FS=2.293;HRun=0;HaplotypeScore=7.5647;MQ=58.84;MQ0=0;MQRankSum=0.579;QD=12.74;ReadPosRankSum=0.128;VQSLOD=4.9834;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,63:133:99:1725,0,1923 1 159409734 159409734 G T exonic OR10J1 nonsynonymous SNV OR10J1:NM_012351:exon1:c.G186T:p.M62I 0.99 0.96 1. 1. 1. 1. 0.9969 0.9656 0.9984 1 1 1.0000 0.9989 0.9999 0.99 0.97 1. 1. 1. rs10908722 . . . . . . . . . . . . . 0.368 0.116 T 0.0 0.026 B 0.0 0.013 B 0.194 0.033 N 1 0.090 P -0.255 0.038 N 4.11 0.029 T 0.44 0.033 N 0.03 0.011 -0.903 0.477 T 0.001 0.004 T . . . -2.464 0.004 0.001 0.642 0.072 0.017 0.053 N c -2.366 -2.398 0.906 0.262 0.487 0.133 0 -5.45 0.024 -6.364 0.001 -0.956 0.024 0.000 0.063 0.000 0.016 2.818 0.051 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9973 0.9627 0.9978 1 1 1 0.9999 0.9995 0.9999 0.9900 0.9649 0.9976 1 1 1 1 1 hom 6701.78 200 1 159409734 . G T 6701.78 Mask AC=2;AF=1.00;AN=2;DP=200;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9815;MQ=59.68;MQ0=0;QD=33.51;VQSLOD=9.8703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6701,527,0 1 159409857 159409857 A G exonic OR10J1 nonsynonymous SNV OR10J1:NM_012351:exon1:c.A309G:p.I103M 0.48 0.43 0.51 0.24 0.65 0.6 0.5630 0.4820 0.39 0.2353 0.5562 0.6344 0.5749 0.6190 0.59 0.49 0.64 0.48 0.53 rs12048482 COSM146659;COSM146660 1(stomach);1(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.025 0.473 D 0.971 0.552 D 0.841 0.584 P 0.001 0.419 D 1 0.090 P 2.905 0.843 M 7.13 0.005 T -2.76 0.585 D 0.284 0.343 -0.903 0.477 T 0.001 0.004 T . . . 1.718 0.267 14.51 0.981 0.378 0.080 0.138 N c -0.524 -0.825 0.003 0.099 0.487 0.133 0 -1.89 0.072 -1.753 0.019 -0.779 0.033 0.000 0.063 0.000 0.016 3.694 0.078 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000228560.1 Cells_Transformed_fibroblasts 0.5571 0.4817 0.3972 0.6359 0.2335 0.5623 0.6396 0.6092 0.6121 0.5619 0.4906 0.4474 0.6026 0.2422 0.5656 0.6398 0.5998 het 2266.53 138 1 159409857 . A G 2266.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.253;DP=138;Dels=0.00;FS=17.896;HRun=0;HaplotypeScore=1.9983;MQ=59.16;MQ0=0;MQRankSum=0.715;QD=16.42;ReadPosRankSum=-0.551;VQSLOD=3.2064;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,74:138:99:2297,0,1784 1 159410340 159410340 T A exonic OR10J1 stopgain OR10J1:NM_012351:exon1:c.T792A:p.C264X 0.085 0.026 0.16 0.028 0.13 0.12 0.1235 0.0390 0.1566 0.0135 0.1793 0.1423 0.1388 0.1121 0.11 0.041 0.14 0.054 0.18 rs12409540 . . . . . . . . . . . . . . . . . . . . . . 0.000 0.449 D 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 5.424 0.736 26.0 0.957 0.271 0.076 0.135 N c -0.640 -0.991 0.034 0.141 0.487 0.133 0 -3.64 0.042 -7.736 0.000 -0.222 0.097 0.000 0.063 0.015 0.124 7.016 0.239 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1254 0.0376 0.1540 0.1006 0.0141 0.1756 0.1422 0.1234 0.1110 0.1123 0.0393 0.1527 0.1060 0.0136 0.1709 0.1480 0.1367 het 3035.95 250 1 159410340 . T A 3035.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.679;DP=250;DS;Dels=0.00;FS=3.023;HRun=0;HaplotypeScore=2.3204;MQ=59.16;MQ0=0;MQRankSum=0.365;QD=12.14;ReadPosRankSum=0.808;VQSLOD=5.7919;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:3066,0,3645 1 159505101 159505101 G A exonic OR10J5 nonsynonymous SNV OR10J5:NM_001004469:exon1:c.C697T:p.R233W 0.098 0.026 0.16 0.025 0.19 0.14 0.1618 0.0448 0.1453 0.0099 0.2568 0.1943 0.1861 0.1559 0.14 0.051 0.19 0.098 0.13 rs35393723 COSM3750495 1(stomach);1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.053 0.388 T 0.145 0.261 B 0.045 0.231 B . . . 1 0.090 P 2.375 0.686 M 8.06 0.003 T -5.51 0.859 D 0.038 0.018 -1.027 0.213 T 0.000 0.001 T . . . -0.225 0.074 0.972 0.574 0.056 0.050 0.107 N c -1.721 -1.899 0.012 0.122 0.487 0.133 0 -7.29 0.013 -2.160 0.014 -0.283 0.084 0.000 0.063 0.189 0.215 5.142 0.142 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1615 0.0412 0.1476 0.1234 0.0112 0.2530 0.1921 0.1585 0.1565 0.1528 0.0433 0.1659 0.1225 0.0117 0.25 0.2064 0.1945 het 1427.32 106 1 159505101 . G A 1427.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.043;DP=106;Dels=0.00;FS=3.847;HRun=0;HaplotypeScore=4.4631;MQ=59.74;MQ0=0;MQRankSum=1.590;QD=13.47;ReadPosRankSum=-0.352;VQSLOD=4.7394;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,48:106:99:1457,0,1517 1 159505297 159505297 C T exonic OR10J5 synonymous SNV OR10J5:NM_001004469:exon1:c.G501A:p.P167P 0.55 0.29 0.66 0.49 0.69 0.74 0.6475 0.3657 0.6656 0.4722 0.5944 0.6972 0.6289 0.7253 0.6 0.38 0.71 0.51 0.69 rs4656837 COSM146661 1(stomach);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6538 0.3592 0.6645 0.7435 0.4674 0.5990 0.7029 0.6854 0.7211 0.5783 0.3753 0.6603 0.7417 0.4745 0.6048 0.6881 0.6633 het 1759.78 156 1 159505297 . C T 1759.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.643;DP=156;Dels=0.00;FS=7.348;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;MQRankSum=-1.006;QD=11.28;ReadPosRankSum=0.080;VQSLOD=4.8094;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,68:156:99:1790,0,2272 1 159558258 159558258 A G exonic APCS synonymous SNV APCS:NM_001639:exon2:c.A432G:p.V144V 0.9 0.98 0.91 0.99 0.84 0.75 0.8462 0.9661 0.9241 0.9880 0.9038 0.8163 0.8344 0.7404 0.87 0.96 0.82 0.91 0.85 rs2808661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8483 0.9680 0.9215 0.7680 0.9878 0.8928 0.8164 0.8407 0.7416 0.8880 0.9668 0.8986 0.7980 0.9827 0.8950 0.8334 0.8602 hom 1309.25 42 1 159558258 . A G 1309.25 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.99;MQ0=0;QD=31.17;VQSLOD=8.8977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1342,102,0 1 159799910 159799910 G A exonic SLAMF8 nonsynonymous SNV SLAMF8:NM_020125:exon2:c.G295A:p.G99S 0.031 0.003 0.039 . 0.11 0.017 0.0800 0.0180 0.0277 0.0012 0.1084 0.1200 0.0632 0.0254 0.088 0.02 0.12 0.022 0.11 rs34687326 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.998 0.875 D 0.000 0.843 D 0.010 0.810 P 1.975 0.537 M 0.65 0.527 T -4.66 0.794 D 0.307 0.367 -0.870 0.505 T 0.140 0.460 T . . . 6.681 0.915 32 0.999 0.941 0.777 0.379 D c 0.474 0.463 1.000 0.747 0.497 0.185 0 4.44 0.530 4.590 0.605 0.900 0.413 1.000 0.715 0.999 0.750 12.426 0.547 Immunoglobulin-like domain . . 0.0783 0.0177 0.0332 0.0944 0.0012 0.1107 0.1183 0.0846 0.0263 0.0804 0.0181 0.0453 0.0828 0.0012 0.1206 0.1175 0.0837 het 1247.02 114 1 159799910 . G A 1247.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.739;DP=114;Dels=0.00;FS=8.931;HRun=0;HaplotypeScore=5.2242;MQ=59.16;MQ0=0;MQRankSum=1.432;QD=10.94;ReadPosRankSum=-1.067;VQSLOD=4.0049;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,45:114:99:1277,0,1953 1 159850401 159850401 C G exonic CFAP45 synonymous SNV CFAP45:NM_012337:exon8:c.G987C:p.L329L 0.12 0.15 0.062 0.11 0.098 0.18 0.1151 0.1503 0.0363 0.1088 0.1391 0.1058 0.1211 0.1794 0.11 0.15 0.098 0.2 0.049 rs7550537 COSM3750498 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1100 0.1508 0.0375 0.0872 0.1074 0.1355 0.1044 0.1002 0.1808 0.1184 0.1457 0.0609 0.0662 0.1043 0.1509 0.1008 0.1191 hom 5655.17 182 1 159850401 . C G 5655.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.201;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6481;MQ=59.40;MQ0=0;MQRankSum=1.598;QD=31.07;ReadPosRankSum=0.163;VQSLOD=8.5034;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,181:182:99:5616,398,0 1 159898100 159898100 A G exonic IGSF9 synonymous SNV IGSF9:NM_001135050:exon19:c.T3078C:p.S1026S,IGSF9:NM_020789:exon19:c.T3030C:p.S1010S 0.5 0.36 0.54 0.65 0.45 0.56 0.4880 0.3966 0.5755 0.6926 0.4438 0.4501 0.4318 0.5322 0.39 0.36 0.41 0.48 0.3 rs3747615 COSM3750502;COSM3750501 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4735 0.3739 0.5499 0.3406 0.6824 0.4316 0.4361 0.4525 0.5230 0.4408 0.3889 0.5298 0.2881 0.6814 0.4480 0.4414 0.4436 het 788.52 52 1 159898100 . A G 788.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.024;DP=52;Dels=0.00;FS=5.356;HRun=0;HaplotypeScore=1.8455;MQ=60.00;MQ0=0;MQRankSum=0.801;QD=15.16;ReadPosRankSum=0.179;VQSLOD=4.9197;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,26:52:99:819,0,709 1 159923111 159923111 T G exonic SLAMF9 nonsynonymous SNV SLAMF9:NM_001146172:exon2:c.A379C:p.I127L,SLAMF9:NM_033438:exon2:c.A379C:p.I127L 0.89 0.75 0.94 1. 0.9 0.93 0.9030 0.7506 0.9629 0.9998 0.8774 0.9060 0.9104 0.9040 0.86 0.76 0.91 0.87 0.89 rs2789417 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.504 N 1 0.090 P -3.23 0.000 N 2.08 0.223 T 1.87 0.005 N 0.112 0.121 -0.970 0.373 T 0.003 0.008 T . . . -0.261 0.071 0.814 0.284 0.015 0.001 0.007 N c -1.111 -0.885 0.720 0.229 0.447 0.083 0 5.28 0.740 2.414 0.440 0.133 0.217 0.865 0.305 0.002 0.062 11.471 0.493 Immunoglobulin subtype . . 0.9092 0.7465 0.9580 0.9260 0.9997 0.8822 0.9079 0.9125 0.9040 0.8705 0.7623 0.9424 0.9305 1 0.8769 0.9109 0.8990 het 1736.75 128 1 159923111 . T G 1736.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.750;DP=128;Dels=0.00;FS=1.588;HRun=0;HaplotypeScore=3.1401;MQ=59.53;MQ0=0;MQRankSum=-1.649;QD=13.57;ReadPosRankSum=-1.444;VQSLOD=5.3038;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,65:128:99:1767,0,1658 1 160124875 160124875 G A exonic ATP1A4 nonsynonymous SNV ATP1A4:NM_144699:exon3:c.G248A:p.G83D 0.69 0.75 0.71 0.68 0.7 0.62 0.6977 0.7587 0.6682 0.6695 0.6489 0.7133 0.7170 0.6498 0.73 0.75 0.72 0.71 0.78 rs6427504 COSM5425491 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.181 0.171 N 0.998 0.221 P -3.14 0.000 N -1.09 0.772 T 4.57 0.000 N 0.045 0.025 -1.035 0.190 T 0.022 0.094 T . . . 0.185 0.112 4.517 0.706 0.091 0.072 0.131 N c -1.133 -0.856 1.000 0.747 0.487 0.133 0 4.48 0.538 6.303 0.726 0.168 0.246 1.000 0.715 0.105 0.191 8.284 0.309 Cation-transporting P-type ATPase\x2c N-terminal|P-type ATPase\x2c A domain ENSG00000132681.12|ENSG00000132681.12|ENSG00000132681.12|ENSG00000132681.12|ENSG00000132681.12|ENSG00000143318.8 Artery_Tibial|Colon_Sigmoid|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial 0.6966 0.7515 0.6825 0.7151 0.6688 0.6653 0.7142 0.7159 0.6496 0.7196 0.7569 0.7255 0.7318 0.6799 0.6573 0.7174 0.6990 het 2701.09 213 1 160124875 . G A 2701.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.155;DP=213;DS;Dels=0.00;FS=14.494;HRun=0;HaplotypeScore=7.4474;MQ=59.12;MQ0=0;MQRankSum=0.893;QD=12.68;ReadPosRankSum=0.699;VQSLOD=3.2904;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,107:213:99:2731,0,2735 1 160134205 160134205 C T exonic ATP1A4 synonymous SNV ATP1A4:NM_144699:exon7:c.C1038T:p.A346A 0.53 0.36 0.68 0.54 0.64 0.53 0.6055 0.3972 0.7271 0.5870 0.6479 0.6280 0.6134 0.5529 0.55 0.41 0.62 0.49 0.36 rs11265338 COSM5009637 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6158 0.3979 0.7263 0.6163 0.5823 0.6513 0.6272 0.6158 0.5548 0.5547 0.3947 0.7153 0.5563 0.5680 0.6407 0.6120 0.6324 hom 7082.48 223 1 160134205 . C T 7082.48 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.251;DP=223;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9973;MQ=59.12;MQ0=0;MQRankSum=1.266;QD=31.76;ReadPosRankSum=0.039;VQSLOD=8.2889;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,222:223:99:7043,539,0 1 160141196 160141196 C T exonic ATP1A4 synonymous SNV ATP1A4:NM_144699:exon11:c.C1647T:p.Y549Y 0.99 0.98 1. 1. 1. 1. 0.9978 0.9765 0.9984 1 1 0.9999 0.9978 1 0.99 0.98 1. 1. 1. rs625549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9763 0.9985 1 1 1 0.9999 0.9991 1.0000 0.9938 0.9786 0.9976 1 1 1 0.9999 0.9980 hom 3002.02 91 1 160141196 . C T 3002.02 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;QD=32.99;VQSLOD=9.2136;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3035,244,0 1 160793442 160793442 A G exonic LY9 synonymous SNV LY9:NM_001261457:exon7:c.A1416G:p.V472V,LY9:NM_001261456:exon8:c.A1644G:p.V548V,LY9:NM_002348:exon8:c.A1686G:p.V562V 0.63 0.69 0.66 0.7 0.45 0.65 0.5295 0.6520 0.7373 0.7304 0.4815 0.4365 0.4879 0.5988 0.49 0.64 0.42 0.65 0.43 rs474131 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5324 0.6556 0.7178 0.5174 0.7269 0.4713 0.4259 0.5091 0.5980 0.5249 0.6519 0.6567 0.4833 0.7119 0.4908 0.4336 0.5072 het 3050.22 204 1 160793442 . A G 3050.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.925;DP=204;Dels=0.00;FS=1.279;HRun=0;HaplotypeScore=8.7246;MQ=59.46;MQ0=0;MQRankSum=0.253;QD=14.95;ReadPosRankSum=-0.136;VQSLOD=4.5275;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,106:204:99:3080,0,2541 1 160793560 160793560 A G exonic LY9 nonsynonymous SNV LY9:NM_001261457:exon7:c.A1534G:p.M512V,LY9:NM_001261456:exon8:c.A1762G:p.M588V,LY9:NM_002348:exon8:c.A1804G:p.M602V 0.66 0.79 0.67 0.7 0.45 0.65 0.5388 0.7499 0.7411 0.7304 0.4814 0.4370 0.4945 0.6004 0.53 0.74 0.42 0.67 0.36 rs509749 COSM3927616 1(haematopoietic_and_lymphoid_tissue);3(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.030 0.017 N 1 0.090 P -0.805 0.016 N 1.57 0.293 T 0.5 0.030 N 0.005 0.002 -1.011 0.266 T 0.009 0.032 T . . . -2.938 0.001 0.001 0.169 0.005 0.001 0.008 N c -2.038 -1.956 0.169 0.177 0.693 0.558 0 2.28 0.275 -0.201 0.094 -1.075 0.019 0.000 0.063 0.000 0.016 8.371 0.314 . . . 0.5397 0.7557 0.7221 0.5170 0.7271 0.4716 0.4260 0.5110 0.5982 0.5532 0.7507 0.6587 0.4801 0.7129 0.4903 0.4338 0.5092 het 2455.60 183 1 160793560 . A G 2455.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.810;DP=183;DS;Dels=0.00;FS=1.411;HRun=0;HaplotypeScore=7.1298;MQ=58.60;MQ0=0;MQRankSum=0.450;QD=13.42;ReadPosRankSum=0.552;VQSLOD=5.0039;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,89:183:99:2486,0,2655 1 160851826 160851826 A T exonic ITLN1 nonsynonymous SNV ITLN1:NM_017625:exon4:c.T326A:p.V109D 0.58 0.33 0.7 0.69 0.68 0.63 0.6487 0.3742 0.7322 0.6884 0.6846 0.6725 0.6751 0.6305 0.58 0.38 0.68 0.51 0.64 rs2274907 COSM4142903 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.010 0.303 N 0.975 0.254 P -3.13 0.000 N 2.86 0.105 T 4.48 0.000 N 0.088 0.084 -0.950 0.411 T 0.001 0.004 T . . . 0.865 0.177 9.859 0.321 0.018 0.009 0.035 N c -1.100 -0.811 0.497 0.209 0.487 0.133 0 4.17 0.481 1.555 0.357 0.089 0.194 0.815 0.297 0.991 0.552 8.262 0.308 Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain|Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular\x2c subdomain 1 ENSG00000122223.8|ENSG00000122223.8|ENSG00000122223.8|ENSG00000179914.4 Artery_Coronary|Lung|Skin_Sun_Exposed_Lower_leg|Testis 0.6604 0.3661 0.7224 0.7340 0.6796 0.6845 0.6754 0.6724 0.6303 0.5949 0.3810 0.7189 0.7020 0.6708 0.6897 0.6757 0.6619 hom 5824.86 179 1 160851826 . A T 5824.86 Mask AC=2;AF=1.00;AN=2;DP=179;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=54.80;MQ0=0;QD=32.36;VQSLOD=7.7955;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5824,490,0 1 160851894 160851894 G A exonic ITLN1 synonymous SNV ITLN1:NM_017625:exon4:c.C258T:p.H86H 0.58 0.31 0.69 0.69 0.68 0.63 0.6475 0.3652 0.7315 0.6883 0.6848 0.6714 0.6729 0.6324 0.58 0.37 0.68 0.51 0.62 rs2274908 COSM4142904 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6587 0.3566 0.7210 0.7110 0.6794 0.6847 0.6756 0.6696 0.6302 0.5914 0.3700 0.7172 0.6733 0.6675 0.6899 0.6759 0.6609 hom 4550.71 140 1 160851894 . G A 4550.71 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=57.27;MQ0=0;QD=32.51;VQSLOD=7.3364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4550,373,0 1 160920966 160920966 C T exonic ITLN2 nonsynonymous SNV ITLN2:NM_080878:exon4:c.G308A:p.R103H 0.49 0.31 0.61 0.56 0.57 0.48 0.5356 0.3443 0.6322 0.5507 0.6236 0.5531 0.5806 0.4723 0.49 0.36 0.56 0.51 0.56 rs6680969 COSM3750521 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.5 0.077 T 0.003 0.131 B 0.004 0.093 B 0.009 0.012 N 1 0.090 P -1.32 0.007 N 1.55 0.299 T 1.59 0.007 N 0.024 0.007 -1.093 0.051 T 0.005 0.018 T . . . -1.146 0.027 0.008 0.792 0.122 0.001 0.007 N c -2.669 -2.722 1.000 0.747 0.653 0.482 0 -7.71 0.011 -4.648 0.002 -6.343 0.000 0.000 0.063 0.001 0.043 5.206 0.145 Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain|Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular\x2c subdomain 1 ENSG00000232188.1 Thyroid 0.5464 0.3338 0.6222 0.5763 0.5366 0.6306 0.5544 0.5755 0.4706 0.4999 0.3361 0.6220 0.5497 0.5193 0.6275 0.5509 0.5694 hom 5537.34 172 1 160920966 . C T 5537.34 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.367;DP=172;Dels=0.00;FS=4.692;HRun=0;HaplotypeScore=7.5180;MQ=57.10;MQ0=0;MQRankSum=0.962;QD=32.19;ReadPosRankSum=-1.570;VQSLOD=2.4790;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,171:172:99:5507,431,0 1 161017556 161017556 C T exonic ARHGAP30 synonymous SNV ARHGAP30:NM_001287602:exon8:c.G2724A:p.R908R,ARHGAP30:NM_001287600:exon11:c.G2811A:p.R937R,ARHGAP30:NM_001025598:exon12:c.G3255A:p.R1085R,ARHGAP30:NM_181720:exon13:c.G2622A:p.R874R 0.22 0.14 0.2 0.14 0.33 0.3 0.2772 0.1845 0.1537 0.1471 0.2598 0.3244 0.2604 0.3303 0.28 0.19 0.33 0.22 0.39 rs2774279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2682 0.1815 0.1600 0.2615 0.1480 0.2573 0.3296 0.2729 0.2889 0.2628 0.1878 0.2064 0.2833 0.1640 0.2607 0.3178 0.3016 hom 4234.63 139 1 161017556 . C T 4234.63 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.358;DP=139;Dels=0.00;FS=3.075;HRun=0;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;MQRankSum=-1.358;QD=30.46;ReadPosRankSum=1.333;VQSLOD=4.0111;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,138:139:99:4196,308,0 1 161019040 161019040 G C exonic ARHGAP30 nonsynonymous SNV ARHGAP30:NM_001287602:exon8:c.C1240G:p.L414V,ARHGAP30:NM_001287600:exon11:c.C1327G:p.L443V,ARHGAP30:NM_001025598:exon12:c.C1771G:p.L591V,ARHGAP30:NM_181720:exon12:c.C1771G:p.L591V 0.4 0.18 0.47 0.33 0.63 0.46 0.5195 0.2509 0.4136 0.3314 0.6149 0.6080 0.5177 0.4651 0.49 0.26 0.61 0.35 0.48 rs3813609 . . . . . . . . . . . . . 0.194 0.231 T 0.361 0.417 B 0.081 0.389 B 0.937 0.076 N 1.000 0.090 P 0.55 0.145 N 2.92 0.354 T -0.05 0.096 N 0.049 0.064 -1.032 0.198 T 0.026 0.111 T . . . 0.085 0.102 3.451 0.967 0.302 0.673 0.331 D c -0.435 -0.408 1.000 0.747 0.672 0.522 0 1.1 0.195 1.465 0.347 -0.741 0.035 0.007 0.175 0.096 0.187 1.708 0.027 . ENSG00000215845.6|ENSG00000215845.6|ENSG00000215845.6|ENSG00000215845.6|ENSG00000158773.10|ENSG00000215845.6|ENSG00000186517.9|ENSG00000270149.1|ENSG00000158773.10 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Whole_Blood 0.5219 0.2434 0.4181 0.5739 0.3314 0.6156 0.6129 0.5524 0.4636 0.4890 0.2526 0.4558 0.5695 0.3398 0.6135 0.6065 0.6033 hom 6699.77 212 1 161019040 . G C 6699.77 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5567;MQ=59.91;MQ0=0;QD=31.60;VQSLOD=8.8207;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6698,568,0 1 161068836 161068836 A C exonic KLHDC9 nonsynonymous SNV KLHDC9:NM_001007255:exon1:c.A511C:p.S171R,KLHDC9:NM_152366:exon1:c.A511C:p.S171R 0.24 0.067 0.3 0.37 0.34 0.19 0.3060 0.1231 0.3412 0.3870 0.3602 0.3262 0.2997 0.2304 0.22 0.093 0.28 0.26 0.31 rs11576830 COSM424364;COSM424365 1(oesophagus) . . . . . . . . . . . 0.523 0.197 T 0.0 0.026 B 0.001 0.040 B 0.798 0.067 N 1 0.090 P 0.6 0.156 N -0.8 0.739 T -0.93 0.249 N 0.055 0.040 -1.097 0.045 T 0.064 0.264 T . . . -1.805 0.011 0.002 0.560 0.053 0.100 0.154 N c -1.569 -1.633 1.000 0.747 0.767 0.994 0 -7.07 0.014 -1.376 0.026 -0.346 0.071 0.000 0.063 0.501 0.271 8.466 0.319 Galactose oxidase/kelch\x2c beta-propeller|Kelch-type beta propeller ENSG00000158850.10|ENSG00000158850.10 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.2749 0.0877 0.3113 0.2760 0.3471 0.3100 0.2919 0.3005 0.2034 0.2425 0.0961 0.3361 0.2533 0.3346 0.3047 0.2929 0.3176 het 263.59 36 1 161068836 . A C 263.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.242;DP=36;Dels=0.00;FS=1.421;HRun=4;HaplotypeScore=1.9992;MQ=57.03;MQ0=1;MQRankSum=1.095;QD=7.32;ReadPosRankSum=-2.311;VQSLOD=2.9822;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,12:36:99:294,0,574 1 161130701 161130701 C T exonic USP21 nonsynonymous SNV USP21:NM_001319847:exon2:c.C358T:p.P120S,USP21:NM_001319848:exon2:c.C271T:p.P91S,USP21:NM_012475:exon2:c.C271T:p.P91S,USP21:NM_001014443:exon3:c.C271T:p.P91S 0.0096 0.0015 0.014 . 0.029 0.0072 0.0213 0.0050 0.0131 0 0.0103 0.0308 0.0188 0.0145 0.023 0.0075 0.03 0.033 0.0082 rs34779722 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.992 0.790 D . . . 0.974 0.391 D 0.695 0.181 N 0.84 0.475 T 0.52 0.029 N 0.197 0.319 -0.873 0.504 T 0.129 0.439 T . . . 3.691 0.501 23.3 0.999 0.982 0.924 0.553 D c 0.515 0.557 1.000 0.747 0.635 0.413 0 5.14 0.699 3.139 0.500 0.935 0.490 1.000 0.715 1.000 0.888 17.538 0.877 . . . 0.0208 0.0050 0.0148 0.0467 0 0.0092 0.0294 0.0254 0.0152 0.0170 0.0060 0.0227 0.0364 0.0012 0.0140 0.0249 0.0204 het 766.38 65 1 161130701 . C T 766.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.478;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5946;MQ=59.65;MQ0=0;MQRankSum=0.584;QD=11.79;ReadPosRankSum=0.400;VQSLOD=6.6266;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,33:65:99:796,0,987 1 161132821 161132821 C A exonic USP21 nonsynonymous SNV USP21:NM_001319847:exon6:c.C1093A:p.P365T,USP21:NM_001319848:exon6:c.C1006A:p.P336T,USP21:NM_012475:exon6:c.C1006A:p.P336T,USP21:NM_001014443:exon7:c.C1006A:p.P336T 0.016 0.0008 0.045 . 0.043 0.0072 0.0262 0.0074 0.0230 0 0.0370 0.0363 0.0254 0.0081 0.031 0.007 0.044 0.011 0.025 rs1127525 . . . . . . . . . . . . . 0.183 0.223 T 0.059 0.216 B 0.114 0.302 B 0.001 0.007 N 0.976 0.254 N 1.25 0.319 L 2.59 0.152 T -0.22 0.105 N 0.046 0.054 -0.969 0.374 T 0.012 0.048 T . . . 0.642 0.155 8.440 0.870 0.164 0.575 0.301 D c -0.751 -0.688 1.000 0.489 0.732 0.924 0 3.77 0.423 0.945 0.285 0.852 0.362 0.006 0.172 0.166 0.209 10.456 0.435 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain . . 0.0275 0.0071 0.0239 0.0339 0 0.0364 0.0383 0.0336 0.0080 0.0253 0.0073 0.0334 0.0298 0 0.0404 0.0338 0.0337 het 1374.95 133 1 161132821 . C A 1374.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.983;DP=133;Dels=0.00;FS=3.360;HRun=0;HaplotypeScore=7.8344;MQ=59.72;MQ0=0;MQRankSum=0.011;QD=10.34;ReadPosRankSum=-0.424;VQSLOD=4.3874;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,58:133:99:1405,0,1910 1 161160872 161160872 T C exonic ADAMTS4 synonymous SNV ADAMTS4:NM_001320336:exon9:c.A2409G:p.R803R 0.16 0.033 0.23 0.36 0.16 0.1 . . . . . . . . . . . 0.17 . rs34884997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1251 0.0430 0.2601 0.17 0.3084 0.1234 0.1424 0.1660 het 334.53 27 1 161160872 . T C 334.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DP=27;Dels=0.00;FS=3.565;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.364;QD=12.39;ReadPosRankSum=0.655;VQSLOD=6.0734;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,14:27:99:365,0,321 1 161163037 161163037 T C exonic ADAMTS4 nonsynonymous SNV ADAMTS4:NM_001320336:exon7:c.A1877G:p.Q626R,ADAMTS4:NM_005099:exon7:c.A1877G:p.Q626R 0.71 0.59 0.71 0.89 0.61 0.78 0.6623 0.6143 0.7983 0.9037 0.6049 0.5987 0.6409 0.7496 0.6 0.61 0.6 0.71 0.49 rs4233367 COSM1472886;COSM424371 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.040 0.241 N 1 0.090 P -1.12 0.009 N 3.89 0.036 T 1.62 0.006 N 0.033 0.013 -0.962 0.388 T 0.001 0.003 T . . . 0.233 0.116 5.021 0.698 0.088 0.154 0.187 N c -1.259 -1.036 1.000 0.413 0.644 0.439 0 1.94 0.249 0.140 0.158 -0.420 0.060 0.003 0.159 0.988 0.529 8.531 0.323 . ENSG00000158864.8 Skin_Sun_Exposed_Lower_leg 0.6648 0.6128 0.7761 0.6115 0.8967 0.6058 0.5965 0.6573 0.7462 0.6168 0.6092 0.7751 0.6060 0.8911 0.6078 0.5849 0.6170 hom 1245.61 39 1 161163037 . T C 1245.61 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.94;VQSLOD=13.9731;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1279,102,0 1 161163108 161163108 C T exonic ADAMTS4 synonymous SNV ADAMTS4:NM_001320336:exon7:c.G1806A:p.G602G,ADAMTS4:NM_005099:exon7:c.G1806A:p.G602G 0.0002 . . . 0.001 . 0.0007 0 0 0 0.0074 0.0006 0 0 0.0001 . 0.0001 . . rs199819346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0 0 0.0005 0 0.0065 0.0003 0.0015 0 0.0010 0 0 0 0 0.0069 0.0003 0.0041 het 559.95 53 1 161163108 . C T 559.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.111;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=-0.743;QD=10.57;ReadPosRankSum=-1.184;VQSLOD=4.4903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:590,0,759 1 161183516 161183516 C T exonic NDUFS2 synonymous SNV NDUFS2:NM_001166159:exon12:c.C1290T:p.A430A,NDUFS2:NM_004550:exon13:c.C1290T:p.A430A 0.16 0.035 0.23 0.36 0.14 0.09 0.1523 0.0483 0.2680 0.3334 0.1122 0.1408 0.1366 0.1057 0.11 0.051 0.13 0.16 0.16 rs1136207 COSM4414973 1(haematopoietic_and_lymphoid_tissue) Likely benign|Likely benign not_specified|Mitochondrial_complex_I_deficiency RCV000117712.2|RCV000367763.1 MedGen|MedGen:OMIM CN169374|C1838979:252010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1569 0.0448 0.2552 0.1842 0.3335 0.1091 0.1362 0.1772 0.1038 0.1202 0.0442 0.2554 0.1689 0.3116 0.1105 0.1360 0.1439 het 2485.49 166 1 161183516 . C T 2485.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.037;DP=166;DS;Dels=0.00;FS=1.331;HRun=0;HaplotypeScore=3.6506;MQ=59.36;MQ0=0;MQRankSum=-1.476;QD=14.97;ReadPosRankSum=0.910;VQSLOD=5.4565;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,94:166:99:2515,0,1943 1 161202605 161202605 G A exonic NR1I3 synonymous SNV NR1I3:NM_001077470:exon4:c.C453T:p.P151P,NR1I3:NM_001077472:exon4:c.C453T:p.P151P,NR1I3:NM_001077473:exon4:c.C453T:p.P151P,NR1I3:NM_001077475:exon4:c.C453T:p.P151P,NR1I3:NM_001077476:exon4:c.C453T:p.P151P,NR1I3:NM_001077477:exon4:c.C453T:p.P151P,NR1I3:NM_001077479:exon4:c.C453T:p.P151P,NR1I3:NM_001077469:exon5:c.C540T:p.P180P,NR1I3:NM_001077471:exon5:c.C540T:p.P180P,NR1I3:NM_001077474:exon5:c.C540T:p.P180P,NR1I3:NM_001077478:exon5:c.C540T:p.P180P,NR1I3:NM_001077480:exon5:c.C540T:p.P180P,NR1I3:NM_001077481:exon5:c.C540T:p.P180P,NR1I3:NM_001077482:exon5:c.C540T:p.P180P,NR1I3:NM_005122:exon5:c.C540T:p.P180P 0.34 0.11 0.33 0.52 0.35 0.45 0.3534 0.1414 0.3950 0.5363 0.3177 0.3481 0.3381 0.3990 0.27 0.14 0.33 0.33 0.33 rs2307424 COSM4142915;COSM4142917;COSM4142916 1(thyroid) Benign not_specified RCV000178902.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3546 0.1396 0.3855 0.3276 0.5277 0.3144 0.3469 0.3609 0.3951 0.2919 0.1463 0.3938 0.3113 0.5309 0.3080 0.3386 0.3289 het 1772.56 155 1 161202605 . G A 1772.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.456;DP=155;Dels=0.00;FS=0.610;HRun=0;HaplotypeScore=3.8483;MQ=59.34;MQ0=0;MQRankSum=0.992;QD=11.44;ReadPosRankSum=0.304;VQSLOD=6.3143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,69:155:99:1803,0,2172 1 161479745 161479745 A G exonic FCGR2A nonsynonymous SNV FCGR2A:NM_001136219:exon4:c.A500G:p.H167R,FCGR2A:NM_021642:exon4:c.A497G:p.H166R 0.44 0.53 0.45 0.28 0.51 0.42 0.4791 0.5458 0.5211 0.3274 0.5091 0.4942 0.4537 0.4153 0.53 0.56 0.52 0.43 0.53 rs1801274 COSM3997022 2(haematopoietic_and_lymphoid_tissue) other|other|other|drug response|Benign Lupus_nephritis\x2c_susceptibility_to|Pseudomonas_aeruginosa\x2c_susceptibility_to_chronic_infection_by\x2c_in_cystic_fibrosis|Malaria\x2c_severe\x2c_susceptibility_to|trastuzumab_response_-_Efficacy|not_specified RCV000015946.3|RCV000015947.3|RCV000054529.2|RCV000211160.1|RCV000454909.1 MedGen|MedGen|MedGen C1970029|CN236585|CN169374 Ulcerative colitis 0.83 . 21297633 rs1801274 2E-20 0.173 0.230 T 0.0 0.026 B 0.002 0.063 B 0.000 0.002 N 1 0.090 P 1.665 0.427 L 2.78 0.113 T -3.15 0.642 D 0.061 0.045 -0.958 0.396 T 0.008 0.026 T . . . -1.872 0.010 0.002 0.228 0.009 0.009 0.035 N c -1.409 -1.545 1.000 0.489 0.554 0.283 0 -4.15 0.036 -0.458 0.068 -4.176 0.000 0.000 0.063 0.000 0.016 4.498 0.112 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.4752 0.5457 0.5166 0.4051 0.3256 0.4899 0.4957 0.4768 0.4162 0.5068 0.5474 0.5012 0.4272 0.3502 0.5132 0.5018 0.4878 het 891.17 86 1 161479745 . A G 891.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.425;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9981;MQ=59.08;MQ0=0;MQRankSum=0.375;QD=10.36;ReadPosRankSum=0.802;VQSLOD=6.6085;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,37:86:99:921,0,1473 1 161683136 161683136 G A exonic FCRLA nonsynonymous SNV FCRLA:NM_001184871:exon2:c.G392A:p.R131Q,FCRLA:NM_001184872:exon3:c.G677A:p.R226Q,FCRLA:NM_001184873:exon3:c.G545A:p.R182Q,FCRLA:NM_001184867:exon4:c.G830A:p.R277Q,FCRLA:NM_001184870:exon4:c.G695A:p.R232Q,FCRLA:NM_032738:exon5:c.G1097A:p.R366Q,FCRLA:NM_001184866:exon6:c.G1115A:p.R372Q 0.3 0.047 0.34 0.24 0.51 0.44 0.4183 0.1130 0.3009 0.2600 0.5064 0.4900 0.4626 0.4482 0.36 0.12 0.48 0.27 0.45 rs11746 COSM3735938;COSM146669;COSM3735939 1(stomach);2(skin);1(thyroid);3(large_intestine) . . . . . . . . . . . 0.375 0.114 T 0.003 0.251 B 0.001 0.158 B 0.838 0.091 N 1 0.090 P 1.245 0.315 L 0.91 0.449 T -0.16 0.326 N 0.019 0.054 -1.012 0.263 T 0.018 0.076 T . . . 0.645 0.156 8.465 0.787 0.120 0.030 0.077 N c -1.467 -1.488 0.997 0.352 0.672 0.522 0 -3.37 0.046 -0.766 0.048 -2.213 0.004 0.000 0.063 0.000 0.016 7.078 0.242 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000162746.10|ENSG00000162746.10|ENSG00000162746.10|ENSG00000162746.10|ENSG00000132185.12|ENSG00000162746.10 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts 0.4207 0.1039 0.3101 0.5340 0.2570 0.5053 0.4865 0.4664 0.4465 0.3687 0.1108 0.3413 0.5331 0.2509 0.5057 0.4920 0.4559 hom 3155.06 103 1 161683136 . G A 3155.06 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.426;DP=103;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;MQRankSum=-0.713;QD=30.63;ReadPosRankSum=-1.087;VQSLOD=4.0887;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,102:103:99:3188,213,0 1 161695639 161695639 G T exonic FCRLB synonymous SNV FCRLB:NM_001288830:exon3:c.G315T:p.A105A,FCRLB:NM_001288832:exon3:c.G315T:p.A105A,FCRLB:NM_001288829:exon4:c.G336T:p.A112A,FCRLB:NM_001288831:exon4:c.G336T:p.A112A,FCRLB:NM_001320241:exon5:c.G336T:p.A112A,FCRLB:NM_001002901:exon6:c.G336T:p.A112A 0.93 0.99 0.94 1. 0.88 0.81 0.8849 0.9739 0.9199 0.9979 0.8480 0.8712 0.8877 0.8144 0.9 0.97 0.87 0.95 0.86 rs7520519 COSM4142926 1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8860 0.9765 0.9222 0.9275 0.9987 0.8535 0.8692 0.8841 0.8096 0.8904 0.9722 0.9153 0.9338 0.9994 0.8453 0.8425 0.8391 hom 3339.99 102 1 161695639 . G T 3339.99 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7609;MQ=59.41;MQ0=0;QD=32.74;VQSLOD=9.2766;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3339,268,0 1 161696782 161696782 G C exonic FCRLB nonsynonymous SNV FCRLB:NM_001288830:exon4:c.G698C:p.R233P,FCRLB:NM_001288832:exon4:c.G739C:p.G247R,FCRLB:NM_001288829:exon5:c.G719C:p.R240P,FCRLB:NM_001288831:exon5:c.G760C:p.G254R 0.31 0.055 0.38 0.26 0.53 0.46 0.4900 0.1681 0.3753 0.3420 0.5905 0.5536 0.5319 0.5169 0.37 0.13 0.49 0.23 0.29 rs11585450 COSM3750534 1(thyroid);3(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.337 0.316 B 0.086 0.280 B . . . 1 0.486 P . . . 4.35 0.024 T -1.08 0.299 N . . -1.036 0.186 T 0.002 0.007 T . . . 0.248 0.118 5.179 0.982 0.390 0.007 0.029 N c -0.849 -1.152 1.000 0.747 0.437 0.062 0 -6.55 0.017 -2.478 0.011 -0.252 0.090 0.000 0.063 0.530 0.276 14.880 0.700 . ENSG00000162746.10|ENSG00000162746.10|ENSG00000162746.10|ENSG00000162746.10|ENSG00000162746.10 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts 0.4336 0.1110 0.3467 0.5566 0.2891 0.5205 0.5095 0.4734 0.4555 0.3832 0.1203 0.3648 0.5503 0.2681 0.5141 0.5093 0.4765 hom 532.28 21 1 161696782 . G C 532.28 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.35;VQSLOD=12.6072;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:48.13:565,48,0 1 161751741 161751741 A G exonic ATF6 nonsynonymous SNV ATF6:NM_007348:exon3:c.A199G:p.M67V 0.17 0.011 0.17 0.26 0.27 0.17 0.2360 0.0466 0.1566 0.2926 0.2971 0.2825 0.2467 0.1676 0.21 0.057 0.29 0.18 0.21 rs1058405 COSM3750535 1(haematopoietic_and_lymphoid_tissue);7(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.372 0.115 T 0.049 0.208 B 0.039 0.223 B 0.000 0.843 D 0.035 0.384 P 2.175 0.612 M 2.55 0.138 T -1.02 0.268 N 0.322 0.383 -1.043 0.165 T 0.014 0.058 T . . . 1.346 0.226 12.51 0.922 0.210 0.709 0.345 D c -0.120 0.024 1.000 0.423 0.732 0.924 0 3.83 0.431 2.557 0.453 1.199 0.960 1.000 0.715 1.000 0.888 8.448 0.318 . ENSG00000162746.10 Cells_Transformed_fibroblasts 0.2343 0.0413 0.1546 0.2144 0.2843 0.2918 0.2847 0.2620 0.1642 0.2119 0.0511 0.1826 0.2053 0.2621 0.3032 0.2805 0.2172 het 582.93 48 1 161751741 . A G 582.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.838;DP=48;Dels=0.00;FS=1.097;HRun=1;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=1.707;QD=12.14;ReadPosRankSum=-0.983;VQSLOD=6.1213;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,22:48:99:613,0,527 1 161928327 161928327 A G exonic ATF6 synonymous SNV ATF6:NM_007348:exon16:c.A1896G:p.S632S 0.56 0.42 0.49 0.51 0.78 0.63 0.6540 0.4482 0.3791 0.5405 0.8006 0.7443 0.7097 0.6090 0.65 0.46 0.75 0.53 0.7 rs9482 COSM1335717 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6511 0.4412 0.4016 0.7232 0.5382 0.8018 0.7457 0.6893 0.6083 0.6511 0.4447 0.4507 0.7152 0.5267 0.8025 0.7553 0.7025 hom 6467.43 207 1 161928327 . A G 6467.43 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.0922;MQ=59.37;MQ0=0;QD=31.24;VQSLOD=8.4317;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:207:99:6466,538,0 1 161967681 161967681 A G exonic OLFML2B nonsynonymous SNV OLFML2B:NM_001297713:exon6:c.T1411C:p.W471R,OLFML2B:NM_001347700:exon6:c.T1414C:p.W472R,OLFML2B:NM_015441:exon6:c.T1408C:p.W470R 0.63 0.58 0.68 0.66 0.67 0.61 0.6577 0.6036 0.6784 0.6543 0.6124 0.6806 0.6542 0.6044 0.65 0.6 0.68 0.53 0.66 rs2499836 COSM5425402 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.341 0.171 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N -2.06 0.859 D 1.22 0.011 N 0.11 0.118 -1.082 0.069 T 0.130 0.440 T . . . 0.375 0.130 6.397 0.381 0.025 0.002 0.013 N c -1.227 -1.194 0.996 0.343 0.615 0.372 0 2.8 0.317 0.461 0.215 0.138 0.222 0.003 0.159 0.005 0.090 4.305 0.103 . . . 0.6620 0.6003 0.6749 0.8006 0.6546 0.6158 0.6787 0.6823 0.6078 0.6416 0.6034 0.6818 0.8179 0.6191 0.6094 0.6660 0.6711 het 3194.09 243 1 161967681 . A G 3194.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.199;DP=243;DS;Dels=0.00;FS=0.543;HRun=0;HaplotypeScore=8.9779;MQ=59.57;MQ0=0;MQRankSum=-0.640;QD=13.14;ReadPosRankSum=0.368;VQSLOD=4.3393;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,121:243:99:3224,0,3067 1 161976234 161976234 A G exonic OLFML2B synonymous SNV OLFML2B:NM_001297713:exon4:c.T576C:p.N192N,OLFML2B:NM_001347700:exon4:c.T576C:p.N192N,OLFML2B:NM_015441:exon4:c.T576C:p.N192N 0.59 0.44 0.79 0.46 0.82 0.55 0.7328 0.5014 0.8019 0.4770 0.8242 0.8194 0.7361 0.5751 0.72 0.51 0.82 0.6 0.84 rs12022536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7421 0.4995 0.8057 0.7683 0.4772 0.8170 0.8214 0.7676 0.5740 0.7161 0.5087 0.7950 0.7533 0.4677 0.8262 0.8282 0.7727 hom 3199.83 108 1 161976234 . A G 3199.83 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7605;MQ=58.32;MQ0=0;QD=29.63;VQSLOD=7.5799;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3233,262,0 1 162344102 162344102 C T exonic SPATA46 synonymous SNV SPATA46:NM_182581:exon3:c.G522A:p.R174R 0.34 0.16 0.42 0.51 0.38 0.31 0.3674 0.1986 0.4268 0.5026 0.4365 0.3730 0.3833 0.3107 0.32 0.22 0.38 0.22 0.34 rs2282397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3746 0.1947 0.4315 0.3151 0.5052 0.4319 0.3745 0.3739 0.3067 0.3390 0.1973 0.4117 0.2980 0.4988 0.4361 0.3760 0.3755 het 4137.27 249 1 162344102 . C T 4137.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.805;DP=249;DS;Dels=0.00;FS=5.141;HRun=0;HaplotypeScore=9.7939;MQ=59.18;MQ0=0;MQRankSum=1.133;QD=16.62;ReadPosRankSum=-0.110;VQSLOD=3.9347;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,129:249:99:3477,0,3417 1 162344390 162344390 A G exonic SPATA46 synonymous SNV SPATA46:NM_182581:exon3:c.T234C:p.D78D 1. 0.99 1. 1. 1. 1. 0.9989 0.9880 0.9997 1 1 1.0000 1 1 1. 0.99 1. 0.98 1. rs164159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9872 0.9996 1 1 1.0000 0.9999 0.9996 1 0.9961 0.9867 1 1 1 1 0.9999 0.9969 hom 4790.93 144 1 162344390 . A G 4790.93 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5116;MQ=59.39;MQ0=0;QD=33.27;VQSLOD=8.8249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4790,394,0 1 162345091 162345091 G A exonic SPATA46 nonsynonymous SNV SPATA46:NM_182581:exon2:c.C206T:p.A69V 0.94 0.79 0.98 1. 1. 0.99 0.9788 0.8164 0.9915 1 0.9986 0.9937 0.9791 0.9932 0.94 0.82 1. 0.9 0.99 rs164181 . . . . . . . . . . . . . 0.926 0.023 T 0.0 0.026 B 0.0 0.013 B 0.431 0.047 N 1 0.090 P -1.195 0.008 N 1.6 0.286 T 0.07 0.061 N 0.024 0.007 -0.954 0.402 T 0.005 0.015 T . . . -0.774 0.041 0.049 0.355 0.022 0.000 0.004 N c -1.920 -1.784 1.000 0.480 0.554 0.283 0 1.25 0.204 -0.090 0.110 -1.337 0.013 0.000 0.063 0.000 0.016 7.416 0.261 . . . 0.9820 0.8130 0.9894 0.9627 0.9999 0.9983 0.9957 0.9852 0.9921 0.9461 0.8205 0.9857 0.9636 1 0.9977 0.9963 0.9796 hom 6447.09 214 1 162345091 . G A 6447.09 Mask AC=2;AF=1.00;AN=2;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1526;MQ=59.11;MQ0=0;QD=30.13;VQSLOD=8.8818;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6446,508,0 1 162367103 162367103 G T exonic SH2D1B nonsynonymous SNV SH2D1B:NM_053282:exon4:c.C366A:p.N122K 0.11 0.032 0.17 0.14 0.12 0.15 0.1071 0.0387 0.1590 0.1326 0.0594 0.1087 0.0892 0.1140 0.088 0.039 0.11 0.043 0.12 rs34001279 COSM4415928 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.043 0.413 D 0.987 0.600 D 0.832 0.579 P . . . 1.000 0.344 P 1.845 0.488 L -1.53 0.816 D -2.38 0.524 N 0.127 0.144 0.167 0.854 D 0.604 0.859 D . . . 1.660 0.261 14.18 0.984 0.405 0.816 0.406 D c -0.059 -0.086 1.000 0.747 0.549 0.223 0 3.47 0.387 1.413 0.341 1.048 0.713 0.929 0.320 0.099 0.189 8.159 0.302 . ENSG00000152332.11 Esophagus_Mucosa 0.1117 0.0348 0.1581 0.0862 0.1367 0.0623 0.1161 0.1088 0.1135 0.0885 0.0434 0.1551 0.0795 0.1522 0.0695 0.1086 0.0891 het 1591.20 130 1 162367103 . G T 1591.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.083;DP=130;Dels=0.00;FS=1.423;HRun=2;HaplotypeScore=3.6924;MQ=58.15;MQ0=0;MQRankSum=1.404;QD=12.24;ReadPosRankSum=-0.069;VQSLOD=5.2025;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,63:130:99:1621,0,1834 1 162737116 162737116 C G exonic DDR2 synonymous SNV DDR2:NM_006182:exon11:c.C1260G:p.L420L,DDR2:NM_001014796:exon12:c.C1260G:p.L420L 0.35 0.5 0.35 0.41 0.15 0.28 0.2242 0.4707 0.4188 0.4040 0.0683 0.1341 0.1817 0.2673 0.26 0.47 0.15 0.37 0.14 rs2298258 COSM3997043;COSM3997044;COSM3997042 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Spondyloepimetaphyseal_dysplasia RCV000254549.1|RCV000266095.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0002651:C0432211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2255 0.4781 0.4063 0.1018 0.3983 0.0753 0.1405 0.1942 0.2677 0.2473 0.4814 0.3890 0.1391 0.3938 0.0808 0.1358 0.1386 het 1740.03 130 1 162737116 . C G 1740.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.996;DP=130;DS;Dels=0.00;FS=1.014;HRun=0;HaplotypeScore=1.7333;MQ=59.47;MQ0=0;MQRankSum=0.245;QD=13.38;ReadPosRankSum=0.451;VQSLOD=6.5775;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,60:130:99:1770,0,2143 1 163309219 163309219 A T exonic NUF2 synonymous SNV NUF2:NM_031423:exon8:c.A558T:p.G186G,NUF2:NM_145697:exon8:c.A558T:p.G186G 0.43 0.32 0.44 0.35 0.44 0.64 0.4412 0.3389 0.3935 0.3127 0.3764 0.4532 0.4460 0.5838 0.42 0.34 0.45 0.39 0.35 rs1509022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4365 0.3403 0.3821 0.5151 0.3125 0.3772 0.4513 0.4617 0.5726 0.3911 0.3363 0.4175 0.5733 0.3203 0.3828 0.4280 0.3840 het 830.18 73 1 163309219 . A T 830.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.561;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=57.92;MQ0=0;MQRankSum=1.154;QD=11.37;ReadPosRankSum=0.966;VQSLOD=5.8505;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,38:73:99:860,0,841 1 165173216 165173216 A G exonic LMX1A synonymous SNV LMX1A:NM_001174069:exon9:c.T1050C:p.D350D,LMX1A:NM_177398:exon9:c.T1050C:p.D350D 1. 1. 1. 1. 1. 1. 0.9997 0.9963 0.9997 1 1 1 1 1 1. 1. 1. 1. 0.98 rs1354509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9958 0.9997 1 1 1 1 0.9998 1.0000 0.9992 0.9973 1 1 1 1 1 1 hom 6464.47 206 1 165173216 . A G 6464.47 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5461;MQ=58.67;MQ0=0;QD=31.38;VQSLOD=4.6159;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:206:99:6464,494,0 1 165218792 165218792 G A exonic LMX1A synonymous SNV LMX1A:NM_001174069:exon4:c.C349T:p.L117L,LMX1A:NM_177398:exon4:c.C349T:p.L117L 0.32 0.13 0.35 0.56 0.24 0.42 0.3039 0.1491 0.4013 0.5618 0.3096 0.2535 0.2753 0.4012 0.22 0.16 0.24 0.2 0.2 rs10753668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3088 0.1478 0.3967 0.1892 0.5588 0.3114 0.2517 0.2664 0.4042 0.2505 0.1571 0.3541 0.1689 0.5644 0.3044 0.2526 0.2776 hom 3047.15 90 1 165218792 . G A 3047.15 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6927;MQ=59.74;MQ0=0;QD=33.86;VQSLOD=9.5204;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3080,244,0 1 165377552 165377552 G A exonic RXRG synonymous SNV RXRG:NM_001256571:exon7:c.C681T:p.V227V,RXRG:NM_006917:exon8:c.C1050T:p.V350V,RXRG:NM_001256570:exon9:c.C681T:p.V227V 0.48 0.23 0.6 0.51 0.67 0.5 0.6105 0.2962 0.6059 0.5311 0.6583 0.6868 0.6200 0.5250 0.55 0.31 0.68 0.48 0.69 rs2134095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6152 0.2839 0.6081 0.7626 0.5340 0.6460 0.6784 0.6447 0.5288 0.5564 0.3030 0.6184 0.7417 0.5490 0.6537 0.6694 0.6354 het 1310.58 126 1 165377552 . G A 1310.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.738;DP=126;Dels=0.00;FS=2.973;HRun=1;HaplotypeScore=7.5765;MQ=59.52;MQ0=0;MQRankSum=1.260;QD=10.40;ReadPosRankSum=0.121;VQSLOD=4.5005;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,54:126:99:1341,0,1999 1 165398115 165398115 T C exonic RXRG synonymous SNV RXRG:NM_006917:exon2:c.A138G:p.T46T 0.25 0.42 0.29 0.25 0.15 0.1 0.1730 0.3591 0.2334 0.2335 0.1343 0.1461 0.1737 0.1054 0.22 0.35 0.15 0.28 0.16 rs113471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1701 0.3643 0.2311 0.1264 0.2290 0.1340 0.1448 0.1818 0.1038 0.2076 0.3510 0.2482 0.1192 0.2108 0.1246 0.1454 0.1684 het 571.58 43 1 165398115 . T C 571.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.023;DP=43;Dels=0.00;FS=4.751;HRun=1;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=1.235;QD=13.29;ReadPosRankSum=-0.893;VQSLOD=5.0741;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,24:43:99:602,0,568 1 165652273 165652273 A G exonic ALDH9A1 synonymous SNV ALDH9A1:NM_000696:exon3:c.T402C:p.I134I 0.75 0.61 0.77 0.99 0.64 0.78 0.7172 0.6184 0.8455 0.9810 0.7026 0.6720 0.6898 0.7410 0.65 0.63 0.66 0.69 0.6 rs1143659 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7214 0.6154 0.8382 0.7138 0.9809 0.6902 0.6642 0.7011 0.7369 0.6783 0.6225 0.8031 0.7185 0.9833 0.6864 0.6677 0.6831 het 1682.14 147 1 165652273 . A G 1682.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.981;DP=147;Dels=0.00;FS=1.487;HRun=0;HaplotypeScore=6.7687;MQ=59.02;MQ0=0;MQRankSum=0.905;QD=11.44;ReadPosRankSum=1.207;VQSLOD=4.8568;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,72:147:99:1712,0,2036 1 165865478 165865478 G A exonic UCK2 synonymous SNV UCK2:NM_012474:exon4:c.G408A:p.G136G 0.087 0.035 0.084 0.082 0.15 0.098 0.1351 0.0432 0.1205 0.0782 0.1787 0.1591 0.1167 0.1196 0.12 0.047 0.15 0.087 0.09 rs11553301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1372 0.0443 0.1321 0.1506 0.0779 0.1786 0.1561 0.1526 0.1161 0.1201 0.0472 0.1241 0.1523 0.0777 0.1830 0.1504 0.1395 het 4274.74 250 1 165865478 . G A 4274.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.595;DP=250;DS;Dels=0.00;FS=3.530;HRun=1;HaplotypeScore=1.6988;MQ=59.50;MQ0=0;MQRankSum=0.498;QD=17.10;ReadPosRankSum=-0.054;VQSLOD=5.9649;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:126,124:250:99:3585,0,3563 1 166818566 166818566 A G exonic POGK synonymous SNV POGK:NM_001314014:exon3:c.A396G:p.A132A,POGK:NM_017542:exon5:c.A750G:p.A250A 0.28 0.15 0.17 0.56 0.16 0.35 0.2239 0.1757 0.1666 0.5722 0.1651 0.1824 0.1914 0.3031 0.18 0.17 0.19 0.23 0.19 rs2075946 COSM4880456 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2200 0.1778 0.1599 0.1637 0.5783 0.1676 0.1823 0.1846 0.3043 0.1913 0.1693 0.1706 0.1689 0.5713 0.1624 0.1729 0.1694 het 558.18 58 1 166818566 . A G 558.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.064;DP=58;Dels=0.00;FS=2.369;HRun=0;HaplotypeScore=0.7887;MQ=58.95;MQ0=0;MQRankSum=-0.715;QD=9.62;ReadPosRankSum=0.381;VQSLOD=6.1840;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,23:58:99:588,0,865 1 166958601 166958601 T C exonic MAEL synonymous SNV MAEL:NM_001286377:exon1:c.T12C:p.R4R,MAEL:NM_032858:exon1:c.T12C:p.R4R 0.3 0.56 0.17 0.25 0.22 0.18 0.2841 0.5443 0.1975 0.2691 0.2667 0.2759 0.2147 0.2116 0.34 0.52 0.25 0.38 0.22 rs2296837 COSM3750550 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2291 0.5256 0.1517 0.1721 0.2244 0.1958 0.2386 0.2027 0.1892 0.3085 0.5245 0.1938 0.1854 0.2441 0.1979 0.2302 0.2219 het 278.92 27 1 166958601 . T C 278.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.528;DP=27;Dels=0.00;FS=2.481;HRun=0;HaplotypeScore=1.9978;MQ=59.14;MQ0=0;MQRankSum=-0.321;QD=10.33;ReadPosRankSum=-1.604;VQSLOD=5.7635;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:309,0,449 1 166958607 166958607 C G exonic MAEL synonymous SNV MAEL:NM_001286377:exon1:c.C18G:p.A6A,MAEL:NM_032858:exon1:c.C18G:p.A6A 0.0092 0.0008 0.023 . 0.027 0.002 0.0182 0.0056 0.0157 0 0.0221 0.0269 0.0278 0.0007 0.018 0.0061 0.024 0.011 0.0082 rs113297248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0155 0.0041 0.0132 0.0276 0 0.0160 0.0228 0.0199 0.0008 0.0140 0.0046 0.0119 0.0232 0 0.0155 0.0203 0.0193 het 362.93 28 1 166958607 . C G 362.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.420;DP=28;Dels=0.00;FS=1.974;HRun=0;HaplotypeScore=0.9995;MQ=59.17;MQ0=0;MQRankSum=0.077;QD=12.96;ReadPosRankSum=2.340;VQSLOD=5.1840;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,16:28:99:393,0,316 1 167095163 167095163 G C exonic DUSP27 nonsynonymous SNV DUSP27:NM_001080426:exon6:c.G795C:p.E265D 0.64 0.89 0.46 0.87 0.48 0.37 0.5010 0.8417 0.3569 0.8803 0.4290 0.4664 0.4724 0.3590 0.6 0.83 0.48 0.7 0.52 rs267745 COSM4142988 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.004 0.346 N 1 0.090 P 0.195 0.092 N -1.99 0.853 D -0.02 0.073 N 0.054 0.036 -0.983 0.343 T 0.076 0.306 T . . . -0.734 0.043 0.060 0.638 0.071 0.026 0.071 N c -1.466 -1.364 0.927 0.268 0.497 0.185 0 -4.59 0.031 -2.166 0.013 -0.333 0.074 0.000 0.063 0.994 0.587 2.803 0.051 Dual specificity phosphatase\x2c catalytic domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase-like . . 0.4945 0.8509 0.3746 0.5569 0.8803 0.4366 0.4659 0.4867 0.3592 0.5735 0.8413 0.4185 0.5642 0.8679 0.4318 0.4357 0.4510 het 1278.95 107 1 167095163 . G C 1278.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.498;DP=107;Dels=0.00;FS=0.727;HRun=0;HaplotypeScore=1.8640;MQ=59.57;MQ0=0;MQRankSum=-0.415;QD=11.95;ReadPosRankSum=-2.242;VQSLOD=5.5272;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,56:107:99:1309,0,1384 1 167097070 167097070 G A exonic DUSP27 nonsynonymous SNV DUSP27:NM_001080426:exon6:c.G2702A:p.R901H 0.0058 0.0008 0.0058 . 0.018 0.0061 0.0143 0.0026 0.0035 0 0.0212 0.0212 0.0110 0.0066 0.015 0.0039 0.02 0.011 0.025 rs61748781 . . . . . . . . . . . . . 0.055 0.384 T 0.004 0.112 B 0.003 0.080 B 0.026 0.016 N 0.531 0.315 N 1.555 0.395 L 3.86 0.037 T -0.59 0.176 N 0.037 0.017 -1.012 0.263 T 0.006 0.021 T . . . 2.187 0.324 17.42 0.955 0.266 0.604 0.309 D c -0.418 -0.304 0.411 0.202 0.554 0.283 0 2.11 0.262 0.878 0.276 1.038 0.658 0.894 0.310 0.998 0.697 7.531 0.267 . . . 0.0140 0.0028 0.0042 0.0118 0.0001 0.0212 0.0217 0.0111 0.0060 0.0154 0.0034 0.0012 0.0066 0 0.0275 0.0216 0.0245 het 1013.13 82 1 167097070 . G A 1013.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.539;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8824;MQ=59.77;MQ0=0;MQRankSum=0.901;QD=12.36;ReadPosRankSum=0.121;VQSLOD=5.8203;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,39:82:99:1043,0,1021 1 167097567 167097567 G A exonic DUSP27 nonsynonymous SNV DUSP27:NM_001080426:exon6:c.G3199A:p.D1067N 0.053 0.0061 0.097 0.001 0.14 0.044 0.1010 0.0210 0.0689 0.0003 0.1163 0.1396 0.1336 0.0620 0.1 0.025 0.14 0.033 0.13 rs61748784 COSM3750554 1(large_intestine) . . . . . . . . . . . 0.143 0.253 T 0.001 0.067 B 0.002 0.063 B 0.002 0.381 N 1 0.090 P 1.7 0.440 L 3.94 0.034 T -0.26 0.112 N 0.006 0.000 -1.019 0.241 T 0.006 0.021 T . . . 0.430 0.135 6.873 0.975 0.336 0.188 0.202 N c -0.407 -0.362 0.909 0.263 0.554 0.283 0 4.38 0.519 1.263 0.324 1.038 0.658 0.822 0.298 0.875 0.366 8.777 0.337 . . . 0.1045 0.0203 0.0770 0.2113 0.0003 0.1185 0.1382 0.1323 0.0629 0.0903 0.0233 0.0811 0.22 0.0012 0.1173 0.1286 0.1191 het 646.50 53 1 167097567 . G A 646.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.521;DP=53;Dels=0.00;FS=1.054;HRun=1;HaplotypeScore=0.9933;MQ=59.56;MQ0=0;MQRankSum=0.489;QD=12.20;ReadPosRankSum=-0.845;VQSLOD=6.4695;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,27:53:99:676,0,747 1 167097739 167097739 C A exonic DUSP27 nonsynonymous SNV DUSP27:NM_001080426:exon6:c.C3371A:p.T1124N 0.38 0.28 0.29 0.74 0.31 0.29 0.3279 0.2750 0.2610 0.7481 0.2887 0.3094 0.3207 0.2790 0.3 0.28 0.31 0.37 0.33 rs2281959 COSM3750555 2(large_intestine) . . . . . . . . . . . 0.042 0.416 D 0.001 0.067 B 0.002 0.063 B 0.062 0.221 N 1 0.090 P 0.55 0.145 N 3.88 0.036 T -0.57 0.172 N 0.021 0.005 -0.988 0.331 T 0.005 0.016 T . . . -0.231 0.074 0.943 0.911 0.198 0.059 0.117 N c -0.845 -0.862 0.654 0.222 0.554 0.283 0 0.916 0.184 0.050 0.139 0.038 0.153 0.001 0.137 0.978 0.483 4.673 0.120 . . . 0.3284 0.2808 0.2678 0.4451 0.7419 0.2944 0.3000 0.3292 0.2770 0.3096 0.2814 0.2763 0.4503 0.7263 0.2930 0.2851 0.2967 het 323.51 40 1 167097739 . C A 323.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.432;DP=40;Dels=0.00;FS=3.009;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.043;QD=8.09;ReadPosRankSum=1.063;VQSLOD=5.7405;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,14:40:99:354,0,745 1 167817639 167817639 A G exonic ADCY10 synonymous SNV ADCY10:NM_001167749:exon16:c.T1938C:p.G646G,ADCY10:NM_001297772:exon19:c.T2121C:p.G707G,ADCY10:NM_018417:exon19:c.T2397C:p.G799G 0.82 0.93 0.84 0.86 0.71 0.74 0.7555 0.9053 0.8717 0.8630 0.7590 0.7117 0.7334 0.7003 0.77 0.9 0.71 0.81 0.74 rs203795 COSM424500 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7593 0.9046 0.8636 0.7243 0.8633 0.7640 0.7119 0.7412 0.6976 0.7843 0.9052 0.8321 0.6954 0.8527 0.7661 0.7133 0.7305 het 1719.31 126 1 167817639 . A G 1719.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.159;DP=126;Dels=0.00;FS=0.697;HRun=0;HaplotypeScore=0.9665;MQ=58.90;MQ0=0;MQRankSum=0.901;QD=13.65;ReadPosRankSum=-1.043;VQSLOD=6.3529;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,70:126:99:1749,0,1410 1 167839578 167839578 G A exonic ADCY10 synonymous SNV ADCY10:NM_001167749:exon11:c.C1074T:p.V358V,ADCY10:NM_001297772:exon14:c.C1257T:p.V419V,ADCY10:NM_018417:exon14:c.C1533T:p.V511V 0.13 0.036 0.22 0.13 0.21 0.099 0.1856 0.0682 0.3031 0.1325 0.1876 0.2071 0.1905 0.1176 0.16 0.073 0.21 0.15 0.17 rs67878347 COSM1559273 1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1929 0.0648 0.2885 0.2477 0.1325 0.1861 0.2072 0.2115 0.1185 0.1613 0.0723 0.2578 0.23 0.1256 0.1872 0.2032 0.1742 het 1118.30 83 1 167839578 . G A 1118.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.880;DP=83;Dels=0.00;FS=6.125;HRun=2;HaplotypeScore=2.9899;MQ=57.96;MQ0=1;MQRankSum=0.589;QD=13.47;ReadPosRankSum=0.589;VQSLOD=4.6159;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,42:83:99:1148,0,1081 1 167849414 167849414 A G exonic ADCY10 synonymous SNV ADCY10:NM_001167749:exon8:c.T696C:p.G232G,ADCY10:NM_001297772:exon11:c.T879C:p.G293G,ADCY10:NM_018417:exon11:c.T1155C:p.G385G 0.49 0.67 0.46 0.32 0.5 0.44 0.4775 0.6376 0.4781 0.3295 0.4422 0.4766 0.5298 0.4695 0.53 0.64 0.48 0.55 0.49 rs203849 COSM146675 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4733 0.6346 0.4769 0.5210 0.3265 0.4526 0.4754 0.4919 0.4612 0.5049 0.6381 0.4749 0.5267 0.3226 0.4472 0.4644 0.4642 hom 1697.60 56 1 167849414 . A G 1697.60 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.31;VQSLOD=14.0925;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1731,135,0 1 167865871 167865871 G A exonic ADCY10 nonsynonymous SNV ADCY10:NM_001167749:exon4:c.C242T:p.T81M,ADCY10:NM_001297772:exon7:c.C425T:p.T142M,ADCY10:NM_018417:exon7:c.C701T:p.T234M 0.076 0.17 0.073 . 0.09 0.018 0.0719 0.1561 0.0487 0 0.0805 0.0827 0.0859 0.0254 0.1 0.15 0.08 0.098 0.041 rs16859886 COSM3750559 2(soft_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.410 N 1.000 0.186 P -1.905 0.002 N 1.58 0.304 T 1.35 0.009 N 0.185 0.226 -1.010 0.268 T 0.011 0.039 T . . . 0.958 0.186 10.42 0.053 0.000 0.035 0.086 N c -0.717 -0.496 0.868 0.253 0.487 0.133 0 5.32 0.753 1.515 0.352 0.168 0.246 0.958 0.332 0.964 0.448 8.373 0.314 Adenylyl cyclase class-3/4/guanylyl cyclase|Nucleotide cyclase ENSG00000143158.6|ENSG00000143158.6|ENSG00000143158.6|ENSG00000143158.6|ENSG00000143158.6 Artery_Tibial|Colon_Transverse|Esophagus_Muscularis|Lung|Thyroid 0.0699 0.1587 0.0563 0.1020 0 0.0780 0.0797 0.0851 0.0256 0.0900 0.1519 0.0622 0.1126 0 0.0765 0.0693 0.0703 het 1880.35 184 1 167865871 . G A 1880.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.504;DP=184;DS;Dels=0.00;FS=0.591;HRun=0;HaplotypeScore=1.8808;MQ=59.06;MQ0=0;MQRankSum=0.025;QD=10.22;ReadPosRankSum=-0.566;VQSLOD=6.6516;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,75:184:99:1910,0,2882 1 167906239 167906239 A C exonic DCAF6 synonymous SNV DCAF6:NM_001017977:exon1:c.A90C:p.R30R,DCAF6:NM_001198956:exon1:c.A90C:p.R30R,DCAF6:NM_001198957:exon1:c.A90C:p.R30R,DCAF6:NM_001349773:exon1:c.A90C:p.R30R,DCAF6:NM_018442:exon1:c.A90C:p.R30R 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.52 0.74 rs203788 COSM4142997;COSM4142998 2(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 311.10 12 1 167906239 . A C 311.10 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.93;VQSLOD=13.0889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:27.08:344,27,0 1 167973976 167973976 C T exonic DCAF6 synonymous SNV DCAF6:NM_001198957:exon9:c.C1230T:p.D410D,DCAF6:NM_001349777:exon9:c.C882T:p.D294D,DCAF6:NM_001349780:exon9:c.C882T:p.D294D,DCAF6:NM_001017977:exon10:c.C1323T:p.D441D,DCAF6:NM_001198956:exon10:c.C1323T:p.D441D,DCAF6:NM_001349773:exon10:c.C1323T:p.D441D,DCAF6:NM_001349774:exon10:c.C882T:p.D294D,DCAF6:NM_001349775:exon10:c.C882T:p.D294D,DCAF6:NM_001349776:exon10:c.C882T:p.D294D,DCAF6:NM_001349778:exon10:c.C882T:p.D294D,DCAF6:NM_001349779:exon10:c.C882T:p.D294D,DCAF6:NM_018442:exon10:c.C1323T:p.D441D 0.17 0.04 0.39 0.13 0.23 0.16 0.2318 0.0788 0.5040 0.1360 0.2090 0.2352 0.2252 0.1842 0.19 0.09 0.24 0.18 0.22 rs1060041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2460 0.0745 0.4855 0.2435 0.1386 0.2049 0.2392 0.2543 0.1840 0.1875 0.0808 0.4426 0.23 0.1315 0.2015 0.2366 0.2006 het 824.28 89 1 167973976 . C T 824.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.207;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.94;MQ0=0;MQRankSum=0.395;QD=9.26;ReadPosRankSum=0.537;VQSLOD=6.9525;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,37:89:99:854,0,1292 1 168059866 168059866 A C exonic GPR161 synonymous SNV GPR161:NM_001267613:exon3:c.T906G:p.G302G,GPR161:NM_001267614:exon3:c.T798G:p.G266G,GPR161:NM_001349635:exon3:c.T744G:p.G248G,GPR161:NM_001267611:exon4:c.T1191G:p.G397G,GPR161:NM_001267612:exon4:c.T744G:p.G248G,GPR161:NM_001349633:exon4:c.T1140G:p.G380G,GPR161:NM_001267609:exon5:c.T1200G:p.G400G,GPR161:NM_001267610:exon5:c.T1140G:p.G380G,GPR161:NM_001349632:exon6:c.T1140G:p.G380G,GPR161:NM_001349634:exon6:c.T1140G:p.G380G,GPR161:NM_153832:exon6:c.T1140G:p.G380G 0.12 0.16 0.15 0.14 0.12 0.021 0.0187 0.0227 0.0169 0.0231 0.0404 0.0198 0.0245 0.0036 . . . . . rs275149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0082 0.0132 0.0049 0.0041 0.0102 0.0111 0.0100 0.0055 0.0022 . . . . . . . . hom 470.74 39 1 168059866 . A C 470.74 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=54.56;MQ0=0;QD=12.07;VQSLOD=5.5914;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:39:51.05:504,51,0 1 169498975 169498975 T C exonic F5 nonsynonymous SNV F5:NM_000130:exon16:c.A5290G:p.M1764V 0.31 0.17 0.49 0.28 0.31 0.39 0.3351 0.1905 0.5327 0.2606 0.2965 0.3211 0.3469 0.3980 0.29 0.2 0.34 0.35 0.3 rs6030 COSM4143006 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Likely benign not_specified|Thrombophilia_due_to_activated_protein_C_resistance RCV000252958.1|RCV000398818.1 MedGen|MedGen:OMIM CN169374|C1861171:188055 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.800 0.093 N 1 0.090 P -1.195 0.008 N -5.02 0.986 D 0.77 0.020 N 0.037 0.017 -0.434 0.710 T 0.433 0.774 T . . . -1.273 0.023 0.005 0.699 0.088 0.032 0.082 N c -1.469 -1.393 1.000 0.747 0.487 0.133 0 -2.86 0.053 -2.274 0.012 -0.702 0.037 0.000 0.063 0.943 0.417 3.252 0.064 . . . 0.3425 0.1909 0.5102 0.2436 0.2552 0.2949 0.3269 0.3447 0.4057 0.2899 0.1914 0.4761 0.2450 0.2381 0.2955 0.3393 0.3306 het 1837.15 152 1 169498975 . T C 1837.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.074;DP=152;Dels=0.00;FS=6.030;HRun=0;HaplotypeScore=0.9979;MQ=58.98;MQ0=0;MQRankSum=-0.214;QD=12.09;ReadPosRankSum=-0.059;VQSLOD=5.5622;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,73:152:99:1867,0,1944 1 169510380 169510380 G A exonic F5 synonymous SNV F5:NM_000130:exon13:c.C3948T:p.L1316L 0.26 0.17 0.39 0.25 0.25 0.32 0.2730 0.1786 0.4422 0.2166 0.2146 0.2589 0.2775 0.3233 0.24 0.19 0.27 0.25 0.25 rs9287090 COSM3997060 1(haematopoietic_and_lymphoid_tissue);1(kidney) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|Budd-Chiari_syndrome|Thrombophilia RCV000243702.1|RCV000285218.1|RCV000335313.1|RCV000342412.1|RCV000400552.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|C0015499:227400:ORPHA326:4320005|C1861171:188055|C0856761:600880:ORPHA131:82385007|C0398623:188050:234467004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2073 0.1352 0.3088 0.0902 0.1746 0.1655 0.2123 0.1916 0.2345 0.2066 0.1555 0.3702 0.1725 0.1928 0.1901 0.2327 0.2248 het 4302.32 250 1 169510380 . G A 4302.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.760;DP=250;DS;Dels=0.00;FS=0.998;HRun=1;HaplotypeScore=6.7487;MQ=57.64;MQ0=3;MQRankSum=-0.498;QD=17.21;ReadPosRankSum=1.832;VQSLOD=2.5273;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3639,0,3044 1 169511555 169511555 T C exonic F5 nonsynonymous SNV F5:NM_000130:exon13:c.A2773G:p.K925E 0.26 0.17 0.39 0.25 0.25 0.32 0.2737 0.1780 0.4431 0.2184 0.2154 0.2596 0.2775 0.3242 0.24 0.18 0.27 0.33 0.25 rs6032 COSM3997061 2(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Budd-Chiari_syndrome|Factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|Thrombophilia RCV000252227.1|RCV000265062.1|RCV000288681.1|RCV000323785.1|RCV000378358.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:SNOMED_CT CN169374|C0856761:600880:ORPHA131:82385007|C0015499:227400:ORPHA326:4320005|C1861171:188055|C0398623:188050:234467004 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.884 0.087 N 1 0.090 P -0.505 0.026 N 2.24 0.179 T 0.42 0.034 N 0.03 0.011 -0.903 0.477 T 0.006 0.022 T . . . -2.194 0.006 0.001 0.241 0.010 0.001 0.005 N c -1.838 -1.850 0.005 0.107 0.487 0.133 0 -5.14 0.026 -0.376 0.075 -1.806 0.007 0.000 0.063 0.004 0.083 17.350 0.872 . . . 0.2780 0.1779 0.4161 0.1755 0.2189 0.2140 0.2670 0.2771 0.3292 0.2334 0.1766 0.3995 0.1887 0.2186 0.2152 0.2634 0.2429 het 1586.93 122 1 169511555 . T C 1586.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.237;DP=122;Dels=0.00;FS=1.485;HRun=2;HaplotypeScore=7.2124;MQ=58.45;MQ0=0;MQRankSum=0.190;QD=13.01;ReadPosRankSum=0.564;VQSLOD=4.1871;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,57:122:99:1617,0,1750 1 169511734 169511734 T C exonic F5 nonsynonymous SNV F5:NM_000130:exon13:c.A2594G:p.H865R 0.26 0.17 0.39 0.25 0.25 0.32 0.2738 0.1781 0.4427 0.2184 0.2153 0.2598 0.2797 0.3244 0.24 0.18 0.27 0.34 0.25 rs4525 COSM3747584 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Budd-Chiari_syndrome|Thrombophilia_due_to_activated_protein_C_resistance|Thrombophilia|Factor_V_deficiency RCV000247612.1|RCV000290751.1|RCV000296476.1|RCV000350367.1|RCV000396448.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0856761:600880:ORPHA131:82385007|C1861171:188055|C0398623:188050:234467004|C0015499:227400:ORPHA326:4320005 . . . . . . 0.449 0.090 T 0.0 0.026 B 0.0 0.013 B 0.465 0.049 N 1 0.090 P 2.175 0.612 M 2.12 0.197 T -2.45 0.535 N 0.02 0.004 -0.971 0.370 T 0.014 0.055 T . . . -1.377 0.020 0.004 0.344 0.021 0.062 0.121 N c -1.208 -1.244 0.000 0.052 0.487 0.133 0 -1.12 0.093 -0.391 0.073 -1.580 0.009 0.000 0.063 0.000 0.016 5.176 0.144 . . . 0.2780 0.1779 0.4161 0.1758 0.2189 0.2137 0.2669 0.2781 0.3292 0.2336 0.1770 0.3971 0.1887 0.2196 0.2149 0.2636 0.2439 het 3178.54 249 1 169511734 . T C 3178.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.739;DP=249;DS;Dels=0.00;FS=3.526;HRun=0;HaplotypeScore=10.4928;MQ=57.72;MQ0=0;MQRankSum=0.437;QD=12.77;ReadPosRankSum=-0.580;VQSLOD=3.4914;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,127:249:99:3209,0,3126 1 169511755 169511755 T C exonic F5 nonsynonymous SNV F5:NM_000130:exon13:c.A2573G:p.K858R 0.27 0.17 0.39 0.25 0.25 0.34 0.2768 0.1782 0.4435 0.2189 0.2153 0.2598 0.2797 0.3462 0.24 0.18 0.27 0.34 0.25 rs4524 COSM3750564 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign not_specified|Thrombophilia_due_to_activated_protein_C_resistance RCV000242831.1|RCV000351409.1 MedGen|MedGen:OMIM CN169374|C1861171:188055 . . . . . . 0.855 0.027 T 0.0 0.026 B 0.0 0.013 B 0.635 0.106 N 1 0.090 P -1.355 0.007 N 2.17 0.190 T 0.21 0.048 N 0.022 0.005 -0.910 0.469 T 0.005 0.016 T . . . -2.579 0.003 0.001 0.123 0.002 0.005 0.023 N c -1.699 -1.643 0.000 0.054 0.487 0.133 0 -1.7 0.077 -0.613 0.057 -0.476 0.054 0.000 0.063 0.000 0.016 5.162 0.143 . . . 0.2807 0.1779 0.4162 0.1756 0.2190 0.2136 0.2668 0.2789 0.3514 0.2339 0.1765 0.3974 0.1887 0.2211 0.2149 0.2638 0.2490 het 3175.57 238 1 169511755 . T C 3175.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.042;DP=238;DS;Dels=0.00;FS=3.604;HRun=0;HaplotypeScore=6.8807;MQ=58.28;MQ0=1;MQRankSum=-0.937;QD=13.34;ReadPosRankSum=0.183;VQSLOD=4.4130;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,118:238:99:3206,0,3182 1 169512027 169512027 T C exonic F5 synonymous SNV F5:NM_000130:exon13:c.A2301G:p.S767S 0.26 0.17 0.39 0.25 0.25 0.32 0.2737 0.1781 0.4427 0.2181 0.2153 0.2596 0.2797 0.3243 0.24 0.18 0.27 0.34 0.25 rs6021 COSM3747585 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Budd-Chiari_syndrome|Thrombophilia_due_to_activated_protein_C_resistance|Factor_V_deficiency|Thrombophilia RCV000249734.1|RCV000273923.1|RCV000327776.1|RCV000333614.1|RCV000387652.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|C0856761:600880:ORPHA131:82385007|C1861171:188055|C0015499:227400:ORPHA326:4320005|C0398623:188050:234467004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2779 0.1779 0.4161 0.1755 0.2189 0.2138 0.2669 0.2779 0.3293 0.2334 0.1768 0.3971 0.1887 0.2180 0.2149 0.2632 0.2454 het 2560.90 193 1 169512027 . T C 2560.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.305;DP=193;Dels=0.00;FS=0.541;HRun=0;HaplotypeScore=3.7519;MQ=58.69;MQ0=0;MQRankSum=1.628;QD=13.27;ReadPosRankSum=-1.826;VQSLOD=4.5813;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,96:193:99:2591,0,2742 1 169512093 169512093 A G exonic F5 synonymous SNV F5:NM_000130:exon13:c.T2235C:p.N745N 0.26 0.17 0.39 0.25 0.25 0.32 0.2737 0.1779 0.4425 0.2184 0.2153 0.2597 0.2797 0.3243 0.24 0.18 0.27 0.34 0.25 rs6017 COSM3997062 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Budd-Chiari_syndrome|Thrombophilia|Thrombophilia_due_to_activated_protein_C_resistance|Factor_V_deficiency RCV000253194.1|RCV000271620.1|RCV000277632.1|RCV000312705.1|RCV000366389.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0856761:600880:ORPHA131:82385007|C0398623:188050:234467004|C1861171:188055|C0015499:227400:ORPHA326:4320005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2779 0.1778 0.4161 0.1755 0.2189 0.2139 0.2669 0.2777 0.3292 0.2337 0.1769 0.3981 0.1887 0.2199 0.2148 0.2636 0.2454 het 3133.18 245 1 169512093 . A G 3133.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.181;DP=245;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4922;MQ=58.97;MQ0=0;MQRankSum=-1.130;QD=12.79;ReadPosRankSum=-0.378;VQSLOD=5.4302;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,118:245:99:3163,0,3313 1 169512120 169512120 G A exonic F5 synonymous SNV F5:NM_000130:exon13:c.C2208T:p.I736I 0.26 0.17 0.39 0.25 0.25 0.32 0.2736 0.1779 0.4424 0.2183 0.2153 0.2596 0.2797 0.3244 0.24 0.18 0.27 0.34 0.25 rs6016 COSM3750565 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|Thrombophilia|Budd-Chiari_syndrome RCV000248428.1|RCV000288631.1|RCV000340074.1|RCV000343631.1|RCV000397944.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0015499:227400:ORPHA326:4320005|C1861171:188055|C0398623:188050:234467004|C0856761:600880:ORPHA131:82385007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2779 0.1778 0.4160 0.1755 0.2189 0.2139 0.2669 0.2777 0.3292 0.2336 0.1766 0.3983 0.1887 0.2199 0.2146 0.2637 0.2444 het 2822.82 236 1 169512120 . G A 2822.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.970;DP=236;DS;Dels=0.00;FS=1.600;HRun=1;HaplotypeScore=6.4376;MQ=58.93;MQ0=0;MQRankSum=0.880;QD=11.96;ReadPosRankSum=0.254;VQSLOD=5.1578;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,107:236:99:2853,0,3465 1 169519049 169519049 T C exonic F5 nonsynonymous SNV F5:NM_000130:exon10:c.A1601G:p.Q534R 0.99 1. 0.99 1. 0.99 0.99 0.9785 0.9956 0.9939 1 0.9793 0.9687 0.9713 0.9853 0.98 1. 0.97 1. 0.98 rs6025 . . Pathogenic|other|other|other|Benign|Pathogenic\x2cdrug response Thrombophilia_due_to_factor_V_Leiden|Ischemic_stroke\x2c_susceptibility_to|Budd-Chiari_syndrome\x2c_susceptibility_to|Recurrent_abortion|Factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance\x2chormonal_contraceptives_for_systemic_use_response_-_Toxicity/ADR RCV000000674.2|RCV000000675.3|RCV000000676.2|RCV000023935.2|RCV000205002.4|RCV000454249.1\x2cRCV000211384.1 MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM\x2cMedGen C0000809:614389:102878001|C0015499:227400:ORPHA326:4320005|C1861171:188055\x2cCN236515 Venous thromboembolism 0.28 . 22672568 rs6025 2E-22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9802 0.9959 0.9931 0.9814 0.9999 0.9786 0.9697 0.9788 0.9861 0.9830 0.9953 0.9869 0.9801 1 0.9777 0.9754 0.9796 hom 1860.53 61 1 169519049 . T C 1860.53 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=30.50;VQSLOD=9.2514;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1894,150,0 1 169762807 169762807 T G exonic METTL18 nonsynonymous SNV METTL18:NM_001320199:exon2:c.A30C:p.E10D,METTL18:NM_001320201:exon2:c.A30C:p.E10D,METTL18:NM_033418:exon2:c.A30C:p.E10D 0.22 0.27 0.2 0.17 0.16 0.28 0.1853 0.2455 0.2129 0.1675 0.1470 0.1584 0.1854 0.2650 0.18 0.24 0.16 0.2 0.16 rs10489177 COSM5002588 1(pancreas) . . . . . . . . . . . 0.146 0.253 T 0.006 0.126 B 0.004 0.093 B 0.046 0.235 N 1.000 0.204 P 1.895 0.505 L 2.48 0.460 T -0.12 0.088 N 0.028 0.117 -1.086 0.062 T 0.041 0.175 T . . . 0.809 0.171 9.518 0.986 0.427 0.534 0.291 D c -0.250 -0.107 1.000 0.446 0.660 0.490 0 3.01 0.337 0.101 0.150 1.061 0.807 0.943 0.325 0.820 0.343 7.862 0.285 . . . 0.1862 0.2439 0.2223 0.1788 0.1717 0.1445 0.1584 0.1840 0.2643 0.1755 0.2315 0.1742 0.2020 0.1854 0.1483 0.1488 0.1602 het 1307.93 100 1 169762807 . T G 1307.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.247;DP=100;Dels=0.00;FS=1.624;HRun=0;HaplotypeScore=4.1086;MQ=59.44;MQ0=0;MQRankSum=2.341;QD=13.08;ReadPosRankSum=0.760;VQSLOD=5.3055;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,53:100:99:1338,0,1343 1 169823718 169823718 T C exonic SCYL3 nonsynonymous SNV SCYL3:NM_020423:exon12:c.A1700G:p.Q567R,SCYL3:NM_181093:exon13:c.A1862G:p.Q621R 0.68 0.71 0.7 0.66 0.59 0.73 0.6433 0.7108 0.7504 0.6650 0.5596 0.5988 0.6377 0.7282 0.63 0.71 0.58 0.65 0.58 rs4656197 COSM1336135;COSM146679 1(stomach);1(skin);4(prostate) . . . . . . . . . . . 0.527 0.071 T 0.589 0.371 P 0.211 0.357 B 0.889 0.087 N 1 0.090 P 1.61 0.413 L 0.89 0.456 T -0.66 0.225 N 0.082 0.075 -0.996 0.310 T 0.046 0.196 T . . . -1.212 0.025 0.006 0.507 0.044 0.216 0.212 N c -1.061 -1.133 0.042 0.145 0.707 0.730 0 -1.02 0.096 0.019 0.132 -0.330 0.074 0.001 0.137 0.005 0.090 17.403 0.873 . ENSG00000000460.12|ENSG00000075945.8|ENSG00000171806.7 Artery_Aorta|Artery_Tibial|Artery_Tibial 0.6428 0.7108 0.7451 0.6784 0.6647 0.5539 0.5894 0.6498 0.7306 0.6202 0.7036 0.7153 0.7152 0.6551 0.5637 0.5755 0.5939 het 1786.62 162 1 169823718 . T C 1786.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.388;DP=162;Dels=0.00;FS=0.593;HRun=0;HaplotypeScore=4.8604;MQ=59.57;MQ0=0;MQRankSum=-1.016;QD=11.03;ReadPosRankSum=-3.270;VQSLOD=3.3404;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,72:162:99:1817,0,2416 1 169951997 169951997 C T exonic KIFAP3 synonymous SNV KIFAP3:NM_001204516:exon13:c.G1386A:p.G462G,KIFAP3:NM_001204517:exon14:c.G1398A:p.G466G,KIFAP3:NM_014970:exon14:c.G1518A:p.G506G,KIFAP3:NM_001204514:exon15:c.G1284A:p.G428G 0.27 0.087 0.29 0.5 0.33 0.23 0.2964 0.1040 0.2979 0.5040 0.3686 0.3086 0.2862 0.2277 0.25 0.11 0.32 0.3 0.3 rs33943686 COSM3750580;COSM3750581 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2994 0.0959 0.2949 0.2129 0.4950 0.3709 0.3130 0.2851 0.2257 0.2759 0.1084 0.2981 0.1722 0.4994 0.3652 0.3269 0.3248 het 504.55 35 1 169951997 . C T 504.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.364;DP=35;Dels=0.00;FS=4.393;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=0.455;QD=14.02;ReadPosRankSum=2.610;VQSLOD=4.3626;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,21:35:99:535,0,397 1 170501385 170501385 A C exonic GORAB synonymous SNV GORAB:NM_001146039:exon1:c.A96C:p.G32G,GORAB:NM_152281:exon1:c.A96C:p.G32G 0.93 0.73 0.99 1. 1. 1. 0.9797 0.7979 0.9858 1 1 0.9973 0.9923 0.9996 0.94 0.81 1. 0.9 0.97 rs7531125 COSM4143021 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9829 0.7912 0.9858 0.9690 0.9999 1 0.9987 0.9867 0.9995 0.9418 0.7985 0.9821 0.9834 0.9994 1 0.9987 0.9919 hom 3330.18 104 1 170501385 . A C 3330.18 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6584;MQ=59.78;MQ0=0;QD=32.02;VQSLOD=9.1370;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3330,259,0 1 170521376 170521376 G A exonic GORAB nonsynonymous SNV GORAB:NM_152281:exon5:c.G958A:p.E320K,GORAB:NM_001320252:exon7:c.G418A:p.E140K 0.59 0.53 0.59 0.88 0.47 0.52 0.5394 0.5278 0.6807 0.9121 0.5654 0.4776 0.5221 0.4932 0.49 0.53 0.46 0.56 0.41 rs913257 COSM3750583 1(pancreas);1(large_intestine) Benign|Benign not_specified|Geroderma_osteodysplastica RCV000246642.1|RCV000282843.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0432255:231070:ORPHA2078:254116003 . . . . . . 0.059 0.375 T 0.777 0.422 P 0.112 0.300 B 0.000 0.454 D 0.977 0.253 P 2.16 0.606 M -0.01 0.628 T -0.82 0.225 N 0.084 0.083 -1.034 0.192 T 0.085 0.332 T . . . 5.381 0.729 25.9 0.995 0.696 0.917 0.538 D c -0.095 -0.117 0.029 0.139 0.707 0.730 0 2.65 0.305 1.853 0.388 1.048 0.713 0.990 0.367 0.171 0.210 9.782 0.396 . ENSG00000075945.8 Cells_Transformed_fibroblasts 0.5428 0.5224 0.6699 0.4139 0.9105 0.5587 0.4734 0.5058 0.4966 0.5294 0.5227 0.6193 0.4139 0.9022 0.5713 0.4809 0.5245 het 746.69 67 1 170521376 . G A 746.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.802;DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=59.10;MQ0=0;MQRankSum=0.965;QD=11.14;ReadPosRankSum=0.725;VQSLOD=6.6157;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,30:67:99:777,0,992 1 171076966 171076966 G A exonic FMO3 nonsynonymous SNV FMO3:NM_001319174:exon3:c.G283A:p.E95K,FMO3:NM_001002294:exon4:c.G472A:p.E158K,FMO3:NM_006894:exon4:c.G472A:p.E158K,FMO3:NM_001319173:exon5:c.G412A:p.E138K 0.35 0.5 0.32 0.19 0.37 0.31 0.3830 0.4666 0.3075 0.2031 0.4513 0.4130 0.4064 0.3273 0.43 0.47 0.41 0.45 0.42 rs2266782 COSM5618417 1(breast) Pathogenic|Likely pathogenic|Pathogenic|Benign|Benign Trimethylaminuria\x2c_mild|Trimethylaminuria|Trimethylaminuria|not_specified|Trimethylaminuria RCV000017711.6|RCV000201276.1|RCV000201278.1|RCV000248637.1|RCV000361492.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C4016101|C0342739:602079:ORPHA468726:237959005|C0342739:602079:ORPHA468726:237959005|CN169374|C0342739:602079:ORPHA468726:237959005 . . . . . . 0.562 0.063 T 0.481 0.349 P 0.164 0.333 B 0.071 0.215 N 0.992 0.239 P 1.185 0.302 L 0.5 0.556 T -1.48 0.362 N 0.282 0.341 -1.097 0.044 T 0.052 0.222 T . . . 2.855 0.404 21.6 0.987 0.444 0.323 0.243 N c -0.483 -0.402 1.000 0.451 0.487 0.133 0 3.78 0.425 0.221 0.173 0.918 0.429 0.000 0.063 0.931 0.405 10.54 0.440 FAD/NAD(P)-binding domain . . 0.3749 0.4644 0.3057 0.3137 0.2002 0.4416 0.4155 0.3666 0.3299 0.4246 0.4554 0.3182 0.3113 0.2123 0.4413 0.4347 0.4151 het 2769.33 217 1 171076966 . G A 2769.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.566;DP=217;Dels=0.00;FS=1.682;HRun=4;HaplotypeScore=8.4435;MQ=58.94;MQ0=0;MQRankSum=1.741;QD=12.76;ReadPosRankSum=-0.696;VQSLOD=4.4470;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,109:217:99:2799,0,2646 1 171162551 171162551 - GAC exonic FMO2 unknown UNKNOWN 0.1 0.3 0.048 0.002 0.045 0.043 0.0603 0.2664 0.0342 0.0003 0.0256 0.0467 0.0452 0.0497 0.12 0.25 0.048 . . rs397844260 COSM4603461 3(upper_aerodigestive_tract);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0556 0.2685 0.0354 0.0880 0.0005 0.0237 0.0463 0.0483 0.0504 0.0967 0.2541 0.0370 0.1060 0.0006 0.0226 0.0403 0.0347 het 2814.16 108 1 171162551 . T TGAC 2814.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.524;DP=108;FS=0.000;HRun=0;HaplotypeScore=417.8132;MQ=55.97;MQ0=0;MQRankSum=-2.257;QD=26.06;ReadPosRankSum=1.576;set=variant2 GT:AD:DP:GQ:PL 0/1:65,42:108:99:2853,0,2142 1 171162583 171162583 T C exonic FMO2 unknown UNKNOWN 0.1 0.3 0.048 0.002 0.045 0.043 0.0605 0.2674 0.0343 0.0005 0.0256 0.0468 0.0453 0.0498 0.11 0.24 0.048 0.076 0.049 rs2020860 . . . . . . . . . . . . . 0.003 0.682 D 0.999 0.764 D 0.991 0.782 D 0.000 0.559 D 0.003 0.434 P 4.295 0.983 H 0.15 0.608 T -5.58 0.864 D 0.336 0.397 0.326 0.880 D 0.489 0.806 T . . . 4.357 0.583 24.1 0.999 0.951 0.932 0.574 D c 0.840 0.741 0.993 0.328 0.487 0.133 0 5.44 0.793 1.227 0.320 1.061 0.807 1.000 0.715 0.999 0.750 15.165 0.724 FAD/NAD(P)-binding domain ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1|ENSG00000225243.1|ENSG00000094963.9|ENSG00000094963.9|ENSG00000225243.1|ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1|ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1|ENSG00000094963.9|ENSG00000094963.9|ENSG00000225243.1|ENSG00000094963.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.0557 0.2691 0.0358 0.0878 0.0005 0.0236 0.0464 0.0488 0.0506 0.0972 0.2559 0.0370 0.1060 0.0006 0.0226 0.0402 0.0347 het 726.80 68 1 171162583 . T C 726.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.957;DP=68;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7510;MQ=58.00;MQ0=0;MQRankSum=0.851;QD=10.69;ReadPosRankSum=-1.469;VQSLOD=5.1840;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:757,0,1044 1 171165803 171165803 G - exonic FMO2 unknown UNKNOWN 0.1 0.3 0.048 0.002 0.045 0.043 0.0606 0.2665 0.0343 0.0003 0.0257 0.0468 0.0457 0.0506 0.12 0.25 0.048 0.087 0.057 rs28369860 COSM5713043 1(central_nervous_system) Benign not_specified RCV000455208.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0561 0.2699 0.0365 0.0882 0.0005 0.0238 0.0466 0.0489 0.0514 0.0971 0.2554 0.0370 0.1060 0.0006 0.0226 0.0402 0.0367 het 1285.69 72 1 171165802 . TG T 1285.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.987;DP=72;FS=0.000;HRun=1;HaplotypeScore=170.6508;MQ=58.59;MQ0=0;MQRankSum=0.419;QD=17.86;ReadPosRankSum=0.529;set=variant2 GT:AD:DP:GQ:PL 0/1:33,39:72:99:1325,0,1259 1 171168584 171168584 C T exonic FMO2 unknown UNKNOWN 0.47 0.53 0.48 0.55 0.3 0.5 0.3960 0.5073 0.5274 0.5607 0.2821 0.3234 0.3711 0.4883 0.38 0.49 0.32 . 0.31 rs2020862 COSM146682 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(liver);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.238 0.291 B 0.366 0.416 B 0.000 0.843 D 0.000 0.588 P 5.1 0.999 H 0.18 0.604 T -5.56 0.863 D 0.36 0.421 -0.027 0.817 T 0.470 0.796 T . . . 6.057 0.834 28.1 0.999 0.981 0.985 0.835 D c 0.594 0.573 1.000 0.747 0.554 0.283 0 6.17 0.997 7.796 0.843 0.931 0.441 1.000 0.715 0.680 0.305 19.651 0.958 FAD/NAD(P)-binding domain ENSG00000225243.1|ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1|ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1 Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal 0.3964 0.5149 0.5146 0.4943 0.5557 0.2789 0.3143 0.3642 0.4796 0.3706 0.4978 0.4806 0.4698 0.5555 0.2742 0.2930 0.3539 hom 5807.84 184 1 171168584 . C T 5807.84 Mask AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5518;MQ=59.27;MQ0=0;QD=31.56;VQSLOD=9.1033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,184:184:99:5807,448,0 1 171168585 171168585 A G exonic FMO2 unknown UNKNOWN 0.59 0.72 0.62 0.6 0.39 0.58 0.5021 0.6882 0.6801 0.6039 0.3936 0.4188 0.4879 0.5887 0.5 0.67 0.42 0.14 0.48 rs2020861 COSM146683 1(breast);1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5019 0.6963 0.6628 0.5411 0.6005 0.3915 0.4106 0.4725 0.5816 0.4903 0.6711 0.6247 0.5302 0.5964 0.3775 0.3946 0.4609 hom 6025.09 186 1 171168585 . A G 6025.09 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5518;MQ=59.28;MQ0=0;QD=32.39;VQSLOD=8.6253;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:6025,457,0 1 171176912 171176912 T G exonic FMO2 unknown UNKNOWN 0.11 0.33 0.05 0.002 0.047 0.044 0.0631 0.2995 0.0357 0.0003 0.0238 0.0467 0.0453 0.0509 0.13 0.28 0.049 0.12 0.057 rs2020865 COSM4985364 4(soft_tissue);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.064 0.220 N 1.000 0.090 P -1.23 0.008 N 0.41 0.571 T 0.94 0.015 N 0.014 0.002 -1.004 0.286 T 0.009 0.032 T . . . 0.342 0.127 6.096 0.731 0.099 0.167 0.193 N c -1.050 -0.856 0.005 0.108 0.487 0.133 0 -1.15 0.092 -0.060 0.116 1.057 0.759 0.501 0.267 0.984 0.507 1.916 0.031 FAD/NAD(P)-binding domain ENSG00000225243.1|ENSG00000094963.9|ENSG00000094963.9|ENSG00000225243.1|ENSG00000094963.9|ENSG00000225243.1 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal 0.0577 0.2998 0.0371 0.0924 0.0005 0.0217 0.0461 0.0501 0.0512 0.1076 0.2904 0.0394 0.11 0.0006 0.0222 0.0407 0.0352 het 2261.68 142 1 171176912 . T G 2261.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.986;DP=142;Dels=0.00;FS=4.218;HRun=1;HaplotypeScore=0.6651;MQ=59.53;MQ0=0;MQRankSum=0.932;QD=15.93;ReadPosRankSum=0.241;VQSLOD=6.2575;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,85:142:99:2292,0,1376 1 171227216 171227216 T C exonic FMO1 startloss FMO1:NM_001282692:exon1:c.T2C:p.Q2_M5del 0.42 0.77 0.34 0.19 0.28 0.38 0.3217 0.7057 0.2964 0.1973 0.2723 0.2800 0.2775 0.3530 0.41 0.68 0.28 0.55 0.16 rs10912675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3092 0.7141 0.2966 0.2842 0.1898 0.2738 0.2774 0.2807 0.3425 0.3990 0.6974 0.3007 0.2833 0.2133 0.2788 0.2861 0.3245 het 993.38 70 1 171227216 . T C 993.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.624;DP=70;Dels=0.00;FS=2.038;HRun=0;HaplotypeScore=0.9665;MQ=59.13;MQ0=0;MQRankSum=0.835;QD=14.19;ReadPosRankSum=0.165;VQSLOD=5.9621;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:1023,0,884 1 171509327 171509327 G A exonic PRRC2C nonsynonymous SNV PRRC2C:NM_015172:exon16:c.G2716A:p.A906T 0.8 0.72 0.72 0.9 0.82 0.85 0.8174 0.7589 0.6915 0.8896 0.8541 0.8200 0.8293 0.8784 0.79 0.76 0.81 0.74 . rs760644 COSM1158681;COSM1158680 1(pancreas);5(prostate) . . . . . . . . . . . 1.0 0.022 T 0.001 0.067 B 0.002 0.063 B 0.405 0.131 N 1 0.090 P -1.085 0.010 N 3.12 0.081 T 0.65 0.026 N 0.003 0.000 -0.930 0.442 T 0.003 0.008 T . . . -0.063 0.088 2.021 0.549 0.051 0.026 0.070 N c -1.777 -1.739 0.011 0.122 0.707 0.730 0 -4.06 0.037 0.088 0.147 -0.418 0.060 0.000 0.063 0.001 0.043 14.179 0.649 . ENSG00000117523.11|ENSG00000117523.11 Adipose_Subcutaneous|Artery_Tibial 0.8133 0.7585 0.6967 0.8141 0.8900 0.8475 0.8188 0.8163 0.8788 0.8149 0.7730 0.7368 0.8046 0.8835 0.8567 0.8248 0.8442 hom 2601.99 85 1 171509327 . G A 2601.99 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7900;MQ=60.00;MQ0=0;QD=30.61;VQSLOD=8.7038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2635,220,0 1 171511039 171511039 C G exonic PRRC2C synonymous SNV PRRC2C:NM_015172:exon16:c.C4428G:p.S1476S 0.81 0.75 0.73 0.9 0.82 0.85 0.8193 0.7788 0.6929 0.8893 0.8544 0.8200 0.8259 0.8789 0.8 0.77 0.81 0.77 . rs1687064 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8150 0.7813 0.6987 0.8139 0.8900 0.8476 0.8189 0.8169 0.8791 0.8201 0.7906 0.7368 0.8046 0.8821 0.8568 0.8253 0.8456 hom 3739.13 122 1 171511039 . C G 3739.13 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8100;MQ=59.81;MQ0=0;QD=30.65;VQSLOD=8.9661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:122:99:3738,307,0 1 171514731 171514731 C G exonic PRRC2C nonsynonymous SNV PRRC2C:NM_015172:exon17:c.C4871G:p.S1624C 0.8 0.73 0.73 0.9 0.82 0.85 0.8232 0.7657 0.7051 0.8937 0.8562 0.8253 0.8345 0.8812 0.79 0.76 0.81 0.76 . rs235468 . . . . . . . . . . . . . 0.03 0.457 D 0.547 0.362 P 0.416 0.432 B 0.839 0.090 N 1 0.090 P 0.345 0.112 N 4.48 0.021 T -1.63 0.391 N 0.046 0.269 -0.828 0.534 T 0.004 0.011 T . . . 1.629 0.257 14.01 0.759 0.109 0.489 0.281 N c -0.376 -0.375 0.048 0.148 0.707 0.730 0 3.27 0.364 1.442 0.344 0.931 0.441 0.003 0.159 0.875 0.366 11.420 0.490 . ENSG00000117523.11|ENSG00000117523.11 Adipose_Subcutaneous|Artery_Tibial 0.8136 0.7637 0.6973 0.8147 0.8917 0.8471 0.8185 0.8169 0.8791 0.8158 0.7755 0.7362 0.8046 0.8830 0.8581 0.8250 0.8447 hom 1268.93 38 1 171514731 . C G 1268.93 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=33.39;VQSLOD=9.0153;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1302,99,0 1 171556165 171556165 G C exonic PRRC2C synonymous SNV PRRC2C:NM_015172:exon31:c.G7767C:p.S2589S 0.79 0.71 0.73 0.9 0.82 0.82 0.8190 0.7559 0.7101 0.8898 0.8549 0.8230 0.8249 0.8624 0.79 0.74 0.81 0.76 . rs235501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8086 0.7505 0.6939 0.8143 0.8891 0.8466 0.8160 0.8126 0.8606 0.8121 0.7642 0.7327 0.8046 0.8815 0.8570 0.8246 0.8432 hom 1003.54 30 1 171556165 . G C 1003.54 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.45;VQSLOD=14.1647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:81.24:1037,81,0 1 171751236 171751236 T C exonic METTL13 synonymous SNV METTL13:NM_001007239:exon1:c.T129C:p.H43H,METTL13:NM_015935:exon1:c.T129C:p.H43H 0.53 0.73 0.44 0.66 0.44 0.3 0.4706 0.7 0.3750 0.6442 0.4678 0.4684 0.4758 0.3118 0.55 0.7 0.47 0.55 0.51 rs2294720 COSM146685 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4655 0.7045 0.3906 0.5477 0.6369 0.4694 0.4626 0.4682 0.3128 0.5540 0.7090 0.3974 0.5132 0.6334 0.4748 0.4886 0.4734 hom 3787.52 115 1 171751236 . T C 3787.52 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5310;MQ=59.07;MQ0=0;QD=32.93;VQSLOD=9.1931;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3787,289,0 1 171753039 171753039 A G exonic METTL13 nonsynonymous SNV METTL13:NM_001007239:exon2:c.A313G:p.M105V,METTL13:NM_014955:exon2:c.A55G:p.M19V,METTL13:NM_015935:exon2:c.A313G:p.M105V 0.31 0.28 0.29 0.52 0.24 0.19 0.2858 0.3124 0.2722 0.5373 0.2933 0.2722 0.2914 0.1983 0.28 0.31 0.27 0.29 0.3 rs2232816 . . . . . . . . . . . . . 0.974 0.087 T 0.015 0.176 B 0.02 0.179 B 0.000 0.629 D 1.000 0.299 P -0.08 0.048 N 1.07 0.618 T 0.17 0.051 N 0.081 0.097 -1.067 0.102 T 0.037 0.158 T . . . 0.233 0.116 5.023 0.942 0.238 0.826 0.415 D c -0.394 -0.142 1.000 0.747 0.707 0.730 0 5.33 0.756 3.536 0.531 1.088 0.866 1.000 0.715 0.994 0.587 7.714 0.277 Methyltransferase type 11|S-adenosyl-L-methionine-dependent methyltransferase;S-adenosyl-L-methionine-dependent methyltransferase ENSG00000197959.9 Thyroid 0.2869 0.3095 0.2770 0.3663 0.5284 0.2919 0.2657 0.2941 0.1979 0.3016 0.3051 0.2590 0.2947 0.5249 0.2904 0.2818 0.2843 het 2411.14 201 1 171753039 . A G 2411.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.076;DP=201;Dels=0.00;FS=9.327;HRun=0;HaplotypeScore=2.8919;MQ=59.26;MQ0=0;MQRankSum=0.727;QD=12.00;ReadPosRankSum=0.269;VQSLOD=4.9419;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:107,94:201:99:2441,0,2913 1 171755071 171755071 A G exonic METTL13 synonymous SNV METTL13:NM_001007239:exon3:c.A498G:p.K166K,METTL13:NM_014955:exon3:c.A708G:p.K236K,METTL13:NM_015935:exon3:c.A966G:p.K322K 0.033 0.003 0.048 . 0.11 0.02 0.0791 0.0145 0.0362 0.0005 0.1223 0.1146 0.0909 0.0293 0.075 0.016 0.11 0.011 0.12 rs17650204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0754 0.0137 0.0370 0.1036 5.799e-05 0.1173 0.1085 0.0813 0.0295 0.0817 0.0181 0.0549 0.1358 0.0006 0.1168 0.1187 0.0973 het 458.40 27 1 171755071 . A G 458.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.132;DP=27;Dels=0.00;FS=2.021;HRun=0;HaplotypeScore=0.0000;MQ=58.88;MQ0=1;MQRankSum=1.401;QD=16.98;ReadPosRankSum=-0.377;VQSLOD=5.5968;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,17:27:99:488,0,230 1 171755170 171755170 G A exonic METTL13 synonymous SNV METTL13:NM_001007239:exon3:c.G597A:p.S199S,METTL13:NM_014955:exon3:c.G807A:p.S269S,METTL13:NM_015935:exon3:c.G1065A:p.S355S 0.32 0.32 0.29 0.52 0.24 0.19 0.2904 0.3502 0.2740 0.5345 0.2979 0.2736 0.2966 0.2009 0.3 0.35 0.27 0.24 0.3 rs2232818 COSM5427427 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2885 0.3419 0.2778 0.3662 0.5270 0.2915 0.2649 0.2951 0.1978 0.3124 0.3414 0.2632 0.2947 0.5267 0.2908 0.2823 0.2867 het 673.89 56 1 171755170 . G A 673.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.443;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.67;MQ0=0;MQRankSum=0.000;QD=12.03;ReadPosRankSum=0.459;VQSLOD=7.2474;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,27:56:99:704,0,757 1 171755182 171755182 G A exonic METTL13 nonsynonymous SNV METTL13:NM_001007239:exon3:c.G609A:p.M203I,METTL13:NM_014955:exon3:c.G819A:p.M273I,METTL13:NM_015935:exon3:c.G1077A:p.M359I 0.1 0.021 0.11 0.13 0.2 0.089 0.1531 0.0405 0.0865 0.1098 0.1828 0.1965 0.1659 0.1040 0.14 0.047 0.2 0.12 0.19 rs2232819 COSM146686 1(breast);1(stomach);1(pancreas);1(prostate) . . . . . . . . . . . 0.034 0.469 D 0.376 0.439 B 0.164 0.455 B 0.004 0.344 N 0.000 0.588 P 2.24 0.636 M 1.0 0.414 T -2.29 0.510 N 0.103 0.160 -1.075 0.084 T 0.094 0.357 T . . . 3.231 0.447 22.8 0.989 0.470 0.997 0.985 D c 0.465 0.561 1.000 0.747 0.722 0.854 0 5.36 0.765 9.579 0.973 1.048 0.713 1.000 0.715 0.999 0.750 18.032 0.892 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000010165.15|ENSG00000010165.15|ENSG00000197959.9|ENSG00000197959.9|ENSG00000010165.15|ENSG00000034971.10|ENSG00000010165.15 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.1493 0.0376 0.0925 0.1736 0.1087 0.1768 0.1935 0.1547 0.1015 0.1475 0.0409 0.1158 0.2119 0.1072 0.1840 0.2043 0.1731 het 805.98 61 1 171755182 . G A 805.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.106;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=59.69;MQ0=0;MQRankSum=0.630;QD=13.21;ReadPosRankSum=-0.687;VQSLOD=6.6422;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,33:61:99:836,0,700 1 171763549 171763549 C T exonic METTL13 synonymous SNV METTL13:NM_001007239:exon7:c.C1239T:p.Y413Y,METTL13:NM_014955:exon7:c.C1449T:p.Y483Y,METTL13:NM_015935:exon7:c.C1707T:p.Y569Y 0.12 0.023 0.16 0.13 0.22 0.093 0.1657 0.0442 0.1396 0.1073 0.2055 0.2072 0.1828 0.1061 0.16 0.053 0.21 0.13 0.19 rs2232825 COSM146687 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1672 0.0433 0.1430 0.1762 0.1091 0.2067 0.2080 0.1736 0.1069 0.1624 0.0478 0.1722 0.22 0.1088 0.2115 0.2198 0.1906 het 1080.80 77 1 171763549 . C T 1080.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.426;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8313;MQ=59.76;MQ0=0;MQRankSum=-0.026;QD=14.04;ReadPosRankSum=-1.071;VQSLOD=6.4255;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,42:77:99:1111,0,867 1 172356437 172356437 A G exonic DNM3 synonymous SNV DNM3:NM_001136127:exon18:c.A2211G:p.T737T,DNM3:NM_001350204:exon19:c.A2241G:p.T747T,DNM3:NM_001350206:exon19:c.A2241G:p.T747T,DNM3:NM_015569:exon19:c.A2223G:p.T741T 1. 1. 0.99 1. 0.99 1. 0.9919 0.9984 0.9969 1 0.9971 0.9869 0.9889 0.9983 0.99 1. 0.99 0.99 . rs6688654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9923 0.9980 0.9971 0.9910 1 0.9970 0.9864 0.9940 0.9984 0.9918 0.9974 0.9952 0.9934 1 0.9974 0.9861 0.9939 hom 1349.45 43 1 172356437 . A G 1349.45 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=31.38;VQSLOD=9.4988;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1382,114,0 1 172410967 172410967 G A exonic PIGC nonsynonymous SNV PIGC:NM_002642:exon2:c.C796T:p.P266S,PIGC:NM_153747:exon2:c.C796T:p.P266S 0.45 0.06 0.54 0.66 0.6 0.57 0.5482 0.1359 0.6357 0.6374 0.5938 0.5760 0.5716 0.5683 0.42 0.15 0.56 0.41 0.49 rs1063412 COSM3750596 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.810 P 1.49 0.374 L 0.36 0.579 T -6.06 0.898 D 0.297 0.357 -0.772 0.568 T 0.179 0.526 T . . . 5.066 0.682 25.3 0.999 0.964 0.959 0.665 D c 0.642 0.621 1.000 0.747 0.732 0.924 0 4.24 0.493 9.185 0.940 0.953 0.551 1.000 0.715 0.994 0.587 12.321 0.541 . ENSG00000135845.5|ENSG00000135845.5 Testis|Whole_Blood 0.5570 0.1287 0.6203 0.5436 0.6456 0.5917 0.5721 0.5775 0.5723 0.4516 0.1391 0.5990 0.5033 0.6199 0.5899 0.5654 0.5796 het 1295.77 122 1 172410967 . G A 1295.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.796;DP=122;Dels=0.00;FS=1.553;HRun=1;HaplotypeScore=2.7977;MQ=59.81;MQ0=0;MQRankSum=0.367;QD=10.62;ReadPosRankSum=0.108;VQSLOD=6.4693;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,50:122:99:1326,0,2040 1 172411496 172411496 A G exonic PIGC synonymous SNV PIGC:NM_002642:exon2:c.T267C:p.G89G,PIGC:NM_153747:exon2:c.T267C:p.G89G 0.92 0.9 0.91 1. 0.85 0.96 0.8747 0.8944 0.9066 0.9995 0.7753 0.8442 0.8645 0.9382 0.85 0.89 0.83 0.92 0.83 rs2230471 COSM3750597 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8731 0.8936 0.9036 0.9236 0.9996 0.7742 0.8385 0.8856 0.9375 0.8469 0.8893 0.8986 0.9305 0.9994 0.7751 0.8184 0.8401 het 1766.87 152 1 172411496 . A G 1766.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.886;DP=152;Dels=0.00;FS=4.204;HRun=1;HaplotypeScore=1.8888;MQ=59.67;MQ0=0;MQRankSum=-1.550;QD=11.62;ReadPosRankSum=1.166;VQSLOD=5.4149;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,71:152:99:1797,0,2189 1 172437592 172437592 G A exonic C1orf105 nonsynonymous SNV C1orf105:NM_001300760:exon5:c.G380A:p.S127N,C1orf105:NM_139240:exon7:c.G410A:p.S137N 0.84 0.67 0.85 1. 0.81 0.94 0.8251 0.7050 0.8815 0.9992 0.7390 0.8008 0.8260 0.9024 0.76 0.71 0.78 0.81 0.8 rs1129942 COSM3750598 1(large_intestine) . . . . . . . . . . . 0.319 0.204 T 0.04 0.198 B 0.027 0.198 B 0.001 0.396 N 0.000 0.588 P 0.895 0.225 L 0.91 0.449 T -1.28 0.346 N 0.025 0.018 -1.073 0.089 T 0.029 0.125 T . . . 0.582 0.150 8.033 0.960 0.277 0.052 0.108 N c -0.822 -0.840 0.990 0.321 0.487 0.133 0 1.08 0.194 -0.313 0.081 0.126 0.213 0.010 0.182 0.286 0.235 6.607 0.218 . ENSG00000094975.9|ENSG00000135845.5|ENSG00000135845.5 Pancreas|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8262 0.7006 0.8760 0.8908 0.9993 0.7399 0.7915 0.8446 0.9017 0.7632 0.6953 0.8529 0.9007 0.9994 0.7425 0.7728 0.7863 het 2738.51 248 1 172437592 . G A 2738.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.552;DP=248;DS;Dels=0.00;FS=4.764;HRun=3;HaplotypeScore=5.7705;MQ=58.58;MQ0=0;MQRankSum=0.037;QD=11.04;ReadPosRankSum=-1.262;VQSLOD=4.3605;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:137,110:248:99:2769,0,3853 1 172501643 172501643 T C exonic SUCO nonsynonymous SNV SUCO:NM_016227:exon1:c.T31C:p.S11P 0.25 0.21 0.21 0.19 0.25 0.39 0.2580 0.2210 0.2098 0.1896 0.2027 0.2543 0.2794 0.3852 0.23 0.2 0.25 0.29 . rs2239816 COSM146688 1(stomach);1(biliary_tract) . . . . . . . . . . . 0.0 0.912 D . . . . . . 0.375 0.044 N 1 0.090 P . . . . . . -0.2 0.102 N 0.028 0.009 -0.965 0.383 T 0.043 0.186 T . . . 0.212 0.114 4.802 0.574 0.056 0.018 0.055 N c -0.855 -1.040 1.0 0.983 0.035 0.002 3 -1.3 0.087 -1.718 0.020 -0.451 0.056 0.000 0.063 0.000 0.016 4.479 0.111 . ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9|ENSG00000094975.9 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung 0.2465 0.2012 0.1979 0.3275 0.1831 0.1943 0.2456 0.2587 0.3709 0.2089 0.2036 0.1914 0.3808 0.1599 0.1910 0.2188 0.2112 het 308.98 29 1 172501643 . T C 308.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.989;DP=29;Dels=0.00;FS=4.410;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.067;QD=10.65;ReadPosRankSum=-0.292;VQSLOD=6.1633;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,11:29:99:339,0,460 1 172547465 172547465 A G exonic SUCO synonymous SNV SUCO:NM_001282750:exon13:c.A1257G:p.E419E,SUCO:NM_016227:exon13:c.A1821G:p.E607E,SUCO:NM_014283:exon14:c.A1368G:p.E456E 0.25 0.24 0.21 0.2 0.23 0.39 0.2439 0.2298 0.2038 0.1908 0.1621 0.2367 0.2676 0.3688 0.24 0.23 0.24 0.28 0.22 rs2285664 COSM3750600;COSM3750599 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2390 0.2253 0.1980 0.3262 0.1884 0.1561 0.2341 0.2520 0.3661 0.2057 0.2268 0.1878 0.3767 0.1671 0.1585 0.2065 0.2025 het 605.95 66 1 172547465 . A G 605.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.032;DP=66;Dels=0.00;FS=2.174;HRun=0;HaplotypeScore=1.4972;MQ=58.51;MQ0=0;MQRankSum=1.983;QD=9.18;ReadPosRankSum=0.833;VQSLOD=5.2645;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,25:66:99:636,0,1013 1 175046789 175046789 A G exonic TNN nonsynonymous SNV TNN:NM_022093:exon2:c.A235G:p.R79G 0.57 0.85 0.52 0.38 0.51 0.49 0.5148 0.7852 0.4628 0.4123 0.4986 0.4994 0.5123 0.5036 0.59 0.78 0.5 0.61 0.53 rs2072032 COSM3723919 1(skin);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.662 0.047 T 0.0 0.026 B 0.0 0.013 B 0.049 0.232 N 1 0.090 P -2.125 0.001 N 1.78 0.257 T 2.25 0.003 N 0.016 0.012 -1.055 0.130 T 0.000 0.000 T . . . -1.373 0.020 0.004 0.112 0.002 0.002 0.009 N c -1.672 -1.615 0.049 0.148 0.581 0.326 0 0.071 0.136 0.821 0.268 -1.579 0.009 0.001 0.137 0.007 0.100 4.944 0.132 . ENSG00000120332.11|ENSG00000120332.11|ENSG00000120332.11|ENSG00000120332.11 Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Pituitary 0.5057 0.7878 0.4622 0.4704 0.4046 0.4964 0.5010 0.5097 0.5045 0.5771 0.7801 0.4629 0.4933 0.4120 0.4994 0.5063 0.5256 hom 2141.85 67 1 175046789 . A G 2141.85 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=59.72;MQ0=0;QD=31.97;VQSLOD=8.7132;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2175,178,0 1 175054548 175054548 C T exonic TNN synonymous SNV TNN:NM_022093:exon6:c.C1242T:p.H414H 0.54 0.75 0.51 0.38 0.51 0.48 0.5108 0.6889 0.4606 0.4158 0.5114 0.5034 0.5203 0.5119 0.56 0.68 0.5 0.58 0.51 rs1573758 COSM5618875 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4961 0.6830 0.4537 0.4717 0.4025 0.4947 0.4984 0.5039 0.5023 0.5460 0.6705 0.4603 0.4967 0.4089 0.5 0.5063 0.5214 hom 472.98 17 1 175054548 . C T 472.98 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=27.82;VQSLOD=8.6076;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.12:506,42,0 1 175087729 175087729 T C exonic TNN nonsynonymous SNV TNN:NM_022093:exon11:c.T2419C:p.W807R 0.47 0.91 0.38 0.07 0.45 0.39 0.4237 0.8361 0.3114 0.0696 0.3768 0.4368 0.4064 0.3951 0.57 0.82 0.44 0.53 0.48 rs6696455 COSM3746666 1(liver);1(thyroid) . . . . . . . . . . . 0.401 0.104 T 0.0 0.026 B 0.001 0.040 B 0.972 0.081 N 1 0.090 P -2.4 0.001 N 0.51 0.555 T 1.64 0.006 N 0.007 0.010 -0.990 0.325 T 0.000 0.000 T . . . -1.703 0.013 0.002 0.293 0.015 0.003 0.017 N c -1.713 -1.603 0.998 0.357 0.554 0.246 0 0.856 0.181 -0.704 0.051 -0.992 0.022 0.000 0.063 0.005 0.090 4.715 0.122 Fibronectin type III|Immunoglobulin-like fold ENSG00000120332.11|ENSG00000120332.11 Esophagus_Mucosa|Heart_Atrial_Appendage 0.4107 0.8449 0.3224 0.4377 0.0637 0.3768 0.4391 0.4252 0.3964 0.5206 0.8345 0.3138 0.4371 0.0723 0.3733 0.4394 0.4290 hom 5371.30 184 1 175087729 . T C 5371.30 Mask AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8835;MQ=59.25;MQ0=0;QD=29.19;VQSLOD=7.9168;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,184:184:99:5370,433,0 1 175092674 175092674 C T exonic TNN nonsynonymous SNV TNN:NM_022093:exon12:c.C2789T:p.P930L 0.6 0.62 0.67 0.49 0.64 0.58 0.6033 0.6092 0.6636 0.5052 0.6071 0.6191 0.5749 0.5448 0.62 0.61 0.63 0.66 0.65 rs2285215 COSM146692 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.37 0.115 T 0.973 0.556 D 0.703 0.524 P 0.011 0.298 N 1 0.090 P 1.39 0.351 L 0.46 0.563 T -1.87 0.437 N 0.06 0.083 -0.911 0.468 T 0.000 0.000 T . . . 1.178 0.208 11.63 0.996 0.758 0.085 0.143 N c -0.149 -0.309 0.416 0.202 0.534 0.214 0 3.1 0.346 0.496 0.220 0.935 0.490 0.000 0.063 0.588 0.286 5.896 0.181 Fibronectin type III|Immunoglobulin-like fold ENSG00000120332.11 Heart_Atrial_Appendage 0.6072 0.6057 0.6634 0.5503 0.5068 0.6143 0.6260 0.6138 0.5469 0.6252 0.6051 0.6647 0.5633 0.5398 0.6251 0.6451 0.6240 hom 4903.85 155 1 175092674 . C T 4903.85 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6393;MQ=59.04;MQ0=0;QD=31.64;VQSLOD=8.5611;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4903,376,0 1 175092707 175092707 C T exonic TNN nonsynonymous SNV TNN:NM_022093:exon12:c.C2822T:p.T941M 0.3 0.43 0.28 0.097 0.44 0.2 0.3428 0.4109 0.2026 0.0872 0.4485 0.4094 0.3491 0.2200 0.41 0.4 0.42 0.37 0.43 rs10798333 . . . . . . . . . . . . . 0.034 0.440 D 0.538 0.360 P 0.292 0.390 B 0.000 0.537 N 0.994 0.236 P 2.545 0.745 M 0.24 0.596 T -2.84 0.598 D 0.076 0.168 -0.974 0.364 T 0.000 0.000 T . . . 3.846 0.519 23.4 0.989 0.475 0.157 0.189 N c -0.353 -0.397 0.585 0.216 0.534 0.214 0 3.11 0.347 0.126 0.155 -0.382 0.065 0.005 0.169 0.047 0.162 6.990 0.238 Fibronectin type III|Immunoglobulin-like fold ENSG00000235750.5 Skin_Not_Sun_Exposed_Suprapubic 0.3384 0.4080 0.2166 0.2695 0.0858 0.4585 0.4170 0.3518 0.2254 0.4058 0.4003 0.2464 0.2914 0.0877 0.4633 0.4419 0.3978 hom 4095.60 129 1 175092707 . C T 4095.60 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6457;MQ=59.50;MQ0=0;QD=31.75;VQSLOD=8.2836;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4095,325,0 1 175113578 175113578 T C exonic TNN synonymous SNV TNN:NM_022093:exon18:c.T3651C:p.N1217N 0.99 1. 0.97 1. 0.96 1. 0.9749 0.9923 0.9830 0.9941 0.9828 0.9629 0.9736 0.9939 0.97 0.99 0.96 0.99 0.98 rs10912897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9748 0.9933 0.9804 0.9797 0.9941 0.9806 0.9607 0.9756 0.9939 0.9782 0.9933 0.9726 0.9768 0.9944 0.9820 0.9674 0.9715 hom 4452.83 149 1 175113578 . T C 4452.83 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7586;MQ=59.51;MQ0=0;QD=29.88;VQSLOD=8.0401;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4452,364,0 1 175299301 175299301 T C exonic TNR synonymous SNV TNR:NM_001328635:exon21:c.A2703G:p.Q901Q,TNR:NM_003285:exon21:c.A3702G:p.Q1234Q 0.77 0.84 0.76 0.79 0.72 0.69 0.7452 0.8105 0.8452 0.8202 0.7270 0.7237 0.7246 0.6900 0.75 0.81 0.72 0.8 0.82 rs2027867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7489 0.8131 0.8396 0.7264 0.8149 0.7366 0.7247 0.7237 0.6889 0.7615 0.8152 0.8225 0.7152 0.8058 0.7474 0.7285 0.7255 hom 4166.71 120 1 175299301 . T C 4166.71 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=59.65;MQ0=0;QD=34.72;VQSLOD=9.6403;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,119:120:99:4166,328,0 1 175324651 175324651 A G exonic TNR synonymous SNV TNR:NM_001328635:exon17:c.T2238C:p.D746D,TNR:NM_003285:exon17:c.T3237C:p.D1079D 0.67 0.52 0.71 0.79 0.68 0.68 0.6892 0.5439 0.7612 0.8223 0.7132 0.6822 0.6817 0.6794 0.64 0.54 0.69 0.71 0.66 rs2228359 COSM4143050 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6963 0.5339 0.7576 0.6721 0.8178 0.7237 0.6835 0.6775 0.6800 0.6586 0.5344 0.7375 0.6457 0.8127 0.7251 0.6924 0.6878 hom 3894.91 136 1 175324651 . A G 3894.91 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2319;MQ=58.42;MQ0=0;QD=28.64;VQSLOD=7.1155;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:3894,331,0 1 175335234 175335234 C T exonic TNR synonymous SNV TNR:NM_001328635:exon11:c.G1095A:p.S365S,TNR:NM_003285:exon11:c.G2094A:p.S698S 0.17 0.15 0.2 0.1 0.24 0.15 0.2131 0.1396 0.1840 0.0946 0.2677 0.2444 0.2556 0.1906 0.21 0.14 0.24 0.21 0.2 rs1385541 COSM3750631 1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2143 0.1385 0.1897 0.2448 0.0909 0.2669 0.2454 0.2230 0.1866 0.2028 0.1379 0.1711 0.2252 0.0807 0.2533 0.2405 0.2413 het 1233.36 103 1 175335234 . C T 1233.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.895;DP=103;Dels=0.00;FS=1.728;HRun=0;HaplotypeScore=0.9894;MQ=59.23;MQ0=0;MQRankSum=-0.152;QD=11.97;ReadPosRankSum=-1.280;VQSLOD=6.5516;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,44:103:99:1263,0,1500 1 175348723 175348723 C T exonic TNR nonsynonymous SNV TNR:NM_001328635:exon9:c.G929A:p.R310K,TNR:NM_003285:exon9:c.G1928A:p.R643K 0.7 0.65 0.71 0.81 0.65 0.69 0.6728 0.6652 0.7723 0.8223 0.6048 0.6437 0.6233 0.6768 0.66 0.68 0.65 0.66 0.66 rs859427 COSM4143052 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.009 0.133 B 0.003 0.360 N 0.984 0.248 P 0.67 0.164 N 0.37 0.577 T 0.91 0.016 N 0.041 0.021 -0.920 0.455 T 0.000 0.000 T . . . 1.955 0.296 15.93 0.554 0.052 0.361 0.252 N c -0.860 -0.686 0.000 0.057 0.549 0.223 0 2.83 0.320 2.193 0.420 -0.271 0.086 0.994 0.380 0.831 0.347 2.821 0.051 Fibronectin type III|Immunoglobulin-like fold . . 0.6746 0.6598 0.7577 0.6026 0.8257 0.6073 0.6489 0.6664 0.6725 0.6668 0.6630 0.7709 0.6 0.8352 0.6162 0.6589 0.6547 het 1180.11 83 1 175348723 . C T 1180.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.824;DP=83;Dels=0.00;FS=9.267;HRun=1;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;MQRankSum=0.069;QD=14.22;ReadPosRankSum=1.135;VQSLOD=4.7748;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,47:83:99:1210,0,990 1 175355391 175355391 A G exonic TNR synonymous SNV TNR:NM_001328635:exon8:c.T555C:p.T185T,TNR:NM_003285:exon8:c.T1554C:p.T518T 0.83 0.8 0.86 0.89 0.77 0.85 0.8141 0.8154 0.8881 0.9041 0.7919 0.7878 0.7696 0.8324 0.8 0.82 0.79 0.79 0.83 rs859437 COSM4143053 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8132 0.8107 0.8803 0.7598 0.9030 0.7897 0.7858 0.8122 0.8238 0.8106 0.8177 0.8783 0.7748 0.9091 0.7966 0.7972 0.7933 het 1149.17 93 1 175355391 . A G 1149.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.820;DP=93;Dels=0.00;FS=6.745;HRun=1;HaplotypeScore=0.9995;MQ=59.60;MQ0=0;MQRankSum=-1.435;QD=12.36;ReadPosRankSum=-0.304;VQSLOD=4.8155;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,44:93:99:1179,0,1300 1 175375469 175375469 C A exonic TNR nonsynonymous SNV TNR:NM_003285:exon3:c.G382T:p.A128S 0.29 0.088 0.36 0.52 0.25 0.3 0.2933 0.1224 0.4867 0.5226 0.3038 0.2576 0.2511 0.2879 0.22 0.13 0.27 0.32 0.28 rs2239819 COSM3750632 1(large_intestine) . . . . . . . . . . . 0.318 0.136 T 0.01 0.144 B 0.007 0.121 B 0.000 0.497 N 1 0.090 P -0.585 0.023 N 1.34 0.348 T -1.1 0.285 N 0.074 0.203 -0.952 0.406 T 0.000 0.000 T . . . -0.887 0.036 0.027 0.390 0.027 0.526 0.289 D c -0.221 -0.236 0.182 0.179 0.487 0.133 0 2.0 0.254 3.237 0.508 -0.373 0.066 1.000 0.715 0.009 0.108 8.009 0.293 . . . 0.3045 0.1177 0.4681 0.1386 0.5175 0.3239 0.2660 0.2648 0.2848 0.2631 0.1187 0.4438 0.1433 0.5299 0.3353 0.2909 0.3098 het 2723.62 217 1 175375469 . C A 2723.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.839;DP=217;Dels=0.00;FS=8.884;HRun=1;HaplotypeScore=8.2926;MQ=58.85;MQ0=0;MQRankSum=0.188;QD=12.55;ReadPosRankSum=-0.482;VQSLOD=4.1072;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,104:217:99:2754,0,3263 1 175375683 175375683 T C exonic TNR synonymous SNV TNR:NM_003285:exon3:c.A168G:p.T56T 0.73 0.76 0.78 0.82 0.63 0.65 0.6758 0.7554 0.8364 0.8393 0.5943 0.6297 0.6200 0.6493 0.68 0.76 0.64 0.72 0.66 rs859399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6783 0.7521 0.8171 0.5785 0.8381 0.6014 0.6354 0.6644 0.6464 0.6856 0.7523 0.8110 0.5927 0.8424 0.6095 0.6449 0.6496 het 3057.60 250 1 175375683 . T C 3057.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.260;DP=250;DS;Dels=0.00;FS=0.991;HRun=0;HaplotypeScore=3.5116;MQ=59.55;MQ0=0;MQRankSum=-0.090;QD=12.23;ReadPosRankSum=-0.278;VQSLOD=6.4151;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3088,0,3830 1 175375802 175375802 T C exonic TNR nonsynonymous SNV TNR:NM_003285:exon3:c.A49G:p.I17V 0.72 0.74 0.78 0.82 0.63 0.65 0.6745 0.7392 0.8360 0.8395 0.5945 0.6299 0.6200 0.6493 0.68 0.74 0.64 0.71 0.66 rs859398 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.323 N 1 0.090 P -0.11 0.046 N 1.84 0.247 T -0.1 0.085 N 0.052 0.034 -0.970 0.372 T 0.000 0.000 T . . . -0.532 0.054 0.183 0.536 0.049 0.002 0.009 N c -1.034 -0.818 0.003 0.097 0.487 0.133 0 3.69 0.413 0.399 0.205 0.069 0.176 0.098 0.225 0.957 0.436 5.502 0.160 . . . 0.6772 0.7369 0.8165 0.5784 0.8382 0.6014 0.6354 0.6641 0.6462 0.6811 0.7370 0.8091 0.5927 0.8426 0.6091 0.6448 0.6480 het 3112.53 249 1 175375802 . T C 3112.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.369;DP=249;DS;Dels=0.00;FS=3.648;HRun=0;HaplotypeScore=4.4738;MQ=59.57;MQ0=0;MQRankSum=0.475;QD=12.50;ReadPosRankSum=0.471;VQSLOD=5.5346;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,125:249:99:3143,0,3498 1 176833497 176833497 G C exonic ASTN1 nonsynonymous SNV ASTN1:NM_004319:exon23:c.C3808G:p.R1270G 0.042 0.0053 0.058 0.031 0.11 0.021 0.0616 0.0170 0.0336 0.0374 0.0783 0.0841 0.0727 0.0237 0.064 0.017 0.088 0.011 0.033 rs12118933 . . . . . . . . . . . . . 0.006 0.614 D 0.369 0.323 B 0.182 0.343 B 0.000 0.513 D 0.000 0.810 P 0.345 0.112 N 2.84 0.107 T -1.43 0.352 N 0.426 0.482 -0.986 0.336 T 0.001 0.003 T . . . 4.530 0.607 24.3 0.998 0.851 0.979 0.780 D c 0.147 0.289 1.000 0.747 0.615 0.372 0 4.61 0.566 7.259 0.776 0.108 0.203 1.000 0.715 0.995 0.604 17.415 0.873 . . . 0.0611 0.0142 0.0407 0.0371 0.0384 0.0753 0.0860 0.0655 0.0254 0.0623 0.0188 0.0442 0.0464 0.0414 0.0882 0.0837 0.0845 het 2693.51 195 1 176833497 . G C 2693.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.294;DP=195;Dels=0.00;FS=1.123;HRun=3;HaplotypeScore=1.7675;MQ=59.29;MQ0=0;MQRankSum=-0.100;QD=13.81;ReadPosRankSum=-0.243;VQSLOD=6.0680;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,104:195:99:2724,0,2218 1 176863836 176863836 G C exonic ASTN1 nonsynonymous SNV ASTN1:NM_001286164:exon17:c.C2802G:p.H934Q,ASTN1:NM_004319:exon17:c.C2802G:p.H934Q,ASTN1:NM_207108:exon17:c.C2802G:p.H934Q 0.83 0.86 0.72 0.8 0.86 0.86 0.8282 0.8695 0.7062 0.7917 0.7867 0.8431 0.8304 0.8626 0.85 0.87 0.84 0.87 0.83 rs2281180 . . . . . . . . . . . . . 0.766 0.035 T 0.0 0.026 B 0.0 0.013 B 0.001 0.425 N 1.000 0.090 P -1.15 0.009 N 1.66 0.275 T 0.88 0.017 N 0.142 0.166 -1.012 0.264 T 0.000 0.000 T . . . 2.008 0.302 16.26 0.587 0.059 0.288 0.234 N c -0.832 -0.586 0.030 0.139 0.615 0.372 0 2.28 0.275 0.599 0.236 -0.331 0.074 0.999 0.424 0.997 0.653 3.169 0.061 Membrane attack complex component/perforin (MACPF) domain . . 0.8202 0.8713 0.7155 0.8503 0.7935 0.7819 0.8419 0.8383 0.8606 0.8338 0.8775 0.7410 0.8874 0.7867 0.7824 0.8309 0.8139 het 2535.21 165 1 176863836 . G C 2535.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.837;DP=165;Dels=0.00;FS=5.232;HRun=0;HaplotypeScore=3.7366;MQ=59.29;MQ0=0;MQRankSum=0.655;QD=15.36;ReadPosRankSum=1.637;VQSLOD=4.1621;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,93:165:99:2565,0,2036 1 176863842 176863842 C T exonic ASTN1 synonymous SNV ASTN1:NM_001286164:exon17:c.G2796A:p.E932E,ASTN1:NM_004319:exon17:c.G2796A:p.E932E,ASTN1:NM_207108:exon17:c.G2796A:p.E932E 0.082 0.15 0.072 0.03 0.11 0.019 0.0749 0.1615 0.0407 0.0369 0.0782 0.0847 0.0771 0.0232 0.11 0.16 0.087 0.054 0.049 rs6680908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0717 0.1645 0.0482 0.0370 0.0378 0.0752 0.0864 0.0704 0.0253 0.1054 0.1688 0.0585 0.0464 0.0414 0.0884 0.0843 0.0888 het 2520.42 167 1 176863842 . C T 2520.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.682;DP=167;Dels=0.00;FS=6.398;HRun=1;HaplotypeScore=5.6540;MQ=59.30;MQ0=0;MQRankSum=-0.614;QD=15.09;ReadPosRankSum=2.126;VQSLOD=3.2293;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,91:167:99:2550,0,2127 1 176863867 176863867 T C exonic ASTN1 nonsynonymous SNV ASTN1:NM_001286164:exon17:c.A2771G:p.H924R,ASTN1:NM_004319:exon17:c.A2771G:p.H924R,ASTN1:NM_207108:exon17:c.A2771G:p.H924R 0.83 0.86 0.72 0.8 0.86 0.86 0.8268 0.8694 0.7059 0.7911 0.7836 0.8416 0.8293 0.8609 0.85 0.87 0.83 0.87 0.8 rs2228956 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.998 0.222 P -0.83 0.015 N 1.65 0.276 T 1.16 0.012 N 0.092 0.140 -0.971 0.369 T 0.000 0.000 T . . . 1.137 0.203 11.41 0.555 0.052 0.088 0.145 N c -0.593 -0.301 1.000 0.467 0.615 0.372 0 5.26 0.734 4.449 0.595 0.069 0.176 1.000 0.715 0.997 0.653 14.087 0.643 Membrane attack complex component/perforin (MACPF) domain . . 0.8190 0.8712 0.7154 0.8503 0.7935 0.7784 0.8403 0.8369 0.8592 0.8317 0.8778 0.7410 0.8874 0.7864 0.7798 0.8272 0.8122 het 2910.50 207 1 176863867 . T C 2910.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.573;DP=207;Dels=0.00;FS=6.038;HRun=0;HaplotypeScore=7.7754;MQ=59.19;MQ0=0;MQRankSum=0.223;QD=14.06;ReadPosRankSum=-0.778;VQSLOD=4.5735;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,106:207:99:2940,0,2590 1 176992553 176992553 A G exonic ASTN1 synonymous SNV ASTN1:NM_001286164:exon7:c.T1425C:p.C475C,ASTN1:NM_004319:exon7:c.T1425C:p.C475C,ASTN1:NM_207108:exon7:c.T1425C:p.C475C 0.51 0.79 0.5 0.21 0.59 0.39 0.6051 0.7517 0.5435 0.2881 0.6895 0.6398 0.6140 0.5060 0.64 0.73 0.6 0.56 0.37 rs172917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5367 0.7369 0.4490 0.5596 0.1832 0.6374 0.5933 0.5457 0.4626 0.6215 0.7450 0.4511 0.6167 0.1821 0.6372 0.6050 0.5969 het 149.04 17 1 176992553 . A G 149.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.391;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.90;MQ0=0;MQRankSum=0.146;QD=8.77;ReadPosRankSum=-0.244;VQSLOD=6.8143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,7:17:99:179,0,308 1 177001896 177001896 C G exonic ASTN1 synonymous SNV ASTN1:NM_001286164:exon3:c.G561C:p.P187P,ASTN1:NM_004319:exon3:c.G561C:p.P187P,ASTN1:NM_207108:exon3:c.G561C:p.P187P 0.15 0.027 0.21 0.26 0.15 0.16 0.1704 0.0491 0.2549 0.2485 0.2381 0.1619 0.1507 0.1532 0.13 0.052 0.16 0.13 0.15 rs2076069 COSM3750637;COSM4786031 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1774 0.0457 0.2437 0.1123 0.2539 0.2427 0.1645 0.1559 0.1520 0.1524 0.0470 0.1890 0.0762 0.2494 0.2368 0.1801 0.1980 het 1234.70 90 1 177001896 . C G 1234.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.935;DP=90;Dels=0.00;FS=0.797;HRun=3;HaplotypeScore=1.6553;MQ=59.79;MQ0=0;MQRankSum=-0.375;QD=13.72;ReadPosRankSum=-0.553;VQSLOD=5.8655;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,46:90:99:1265,0,1058 1 177247854 177247854 C G exonic BRINP2 nonsynonymous SNV BRINP2:NM_021165:exon7:c.C1168G:p.L390V 0.26 0.4 0.21 0.21 0.22 0.22 0.2178 0.3822 0.1927 0.1774 0.1491 0.2030 0.2329 0.2398 0.27 0.38 0.21 0.23 0.22 rs3176443 COSM4143065 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.001 0.399 N 1 0.090 P -1.59 0.004 N 2.74 0.117 T 1.24 0.010 N 0.071 0.059 -0.911 0.468 T 0.000 0.000 T . . . 0.072 0.101 3.310 0.688 0.085 0.099 0.154 N c -0.970 -0.703 0.872 0.254 0.622 0.393 0 3.17 0.354 1.437 0.344 0.073 0.181 0.943 0.325 0.986 0.517 8.709 0.334 . . . 0.2142 0.3884 0.1962 0.2546 0.1792 0.1463 0.2032 0.2280 0.2406 0.2473 0.3997 0.2273 0.2417 0.1751 0.1468 0.1954 0.1806 het 2657.10 220 1 177247854 . C G 2657.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.422;DP=220;DS;Dels=0.00;FS=0.570;HRun=0;HaplotypeScore=4.6293;MQ=59.00;MQ0=0;MQRankSum=-0.213;QD=12.08;ReadPosRankSum=0.230;VQSLOD=5.9108;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,102:220:99:2687,0,3468 1 177902387 177902387 C A exonic SEC16B nonsynonymous SNV SEC16B:NM_033127:exon22:c.G2785T:p.A929S 0.23 0.27 0.26 0.11 0.26 0.24 0.3201 0.3627 0.3663 0.1859 0.2856 0.3359 0.2869 0.2817 0.25 0.28 0.23 0.23 . rs61745560 COSM3997083 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.104 0.197 N 1 0.090 P -1.83 0.003 N 2.62 0.130 T 0.07 0.061 N 0.028 0.009 -0.940 0.427 T 0.000 0.000 T . . . 1.028 0.192 10.82 0.721 0.095 0.002 0.012 N c -1.253 -1.088 0.010 0.120 0.615 0.372 0 2.68 0.307 0.822 0.268 0.165 0.245 0.048 0.211 0.019 0.132 4.940 0.132 . . . 0.2299 0.2838 0.2210 0.2807 0.1076 0.2131 0.2408 0.2393 0.2393 0.2563 0.2912 0.2446 0.2649 0.1106 0.2241 0.2585 0.2761 het 423.87 32 1 177902387 . C A 423.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.285;DP=32;Dels=0.00;FS=6.903;HRun=0;HaplotypeScore=1.6208;MQ=59.28;MQ0=0;MQRankSum=0.427;QD=13.25;ReadPosRankSum=-0.728;VQSLOD=4.9716;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,20:32:99:454,0,283 1 177902725 177902725 C T exonic SEC16B nonsynonymous SNV SEC16B:NM_033127:exon21:c.G2618A:p.S873N 0.22 0.24 0.26 0.11 0.26 0.24 0.2342 0.2626 0.2343 0.1094 0.2141 0.2462 0.2194 0.2427 0.24 0.26 0.24 0.24 . rs3813649 COSM3997084 1(bone);1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . 0.474 0.084 T 0.0 0.026 B 0.0 0.013 B 0.000 0.005 N 1 0.090 P -0.55 0.024 N 2.54 0.139 T -0.26 0.112 N 0.002 0.000 -1.013 0.259 T 0.000 0.000 T . . . -0.164 0.079 1.300 0.634 0.070 0.015 0.049 N c -2.494 -2.569 1.000 0.747 0.490 0.173 1 -10.2 0.003 -1.488 0.024 -3.406 0.001 0.000 0.063 0.000 0.016 2.855 0.052 . . . 0.2344 0.2633 0.2255 0.2856 0.1116 0.2168 0.2480 0.2436 0.2445 0.2482 0.2637 0.2434 0.2649 0.1104 0.2238 0.2580 0.2739 het 594.70 83 1 177902725 . C T 594.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.864;DP=83;Dels=0.00;FS=0.906;HRun=1;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;MQRankSum=0.005;QD=7.17;ReadPosRankSum=-0.821;VQSLOD=5.7414;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,27:83:99:625,0,1504 1 177902753 177902753 G C exonic SEC16B nonsynonymous SNV SEC16B:NM_033127:exon21:c.C2590G:p.P864A 0.41 0.46 0.44 0.28 0.45 0.4 0.4236 0.4700 0.4325 0.3267 0.3867 0.4383 0.3842 0.3977 0.44 0.46 0.43 0.38 . rs591120 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.264 0.152 N 1 0.090 P -1.845 0.003 N 2.72 0.120 T 1.17 0.011 N 0.014 0.002 -0.941 0.425 T 0.000 0.000 T . . . 0.268 0.120 5.381 0.471 0.038 0.004 0.019 N c -1.488 -1.352 0.583 0.216 0.560 0.301 0 2.73 0.311 -0.280 0.084 -0.385 0.065 0.000 0.063 0.001 0.043 4.338 0.105 . . . 0.4224 0.4704 0.4318 0.4156 0.3180 0.3915 0.4427 0.4185 0.3989 0.4386 0.4755 0.4581 0.4172 0.3121 0.3942 0.4404 0.4418 het 753.09 96 1 177902753 . G C 753.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.203;DP=96;Dels=0.00;FS=1.765;HRun=0;HaplotypeScore=0.8941;MQ=59.15;MQ0=0;MQRankSum=2.281;QD=7.84;ReadPosRankSum=-0.913;VQSLOD=5.1836;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,32:96:99:783,0,1652 1 177905469 177905469 C A exonic SEC16B nonsynonymous SNV SEC16B:NM_033127:exon20:c.G2535T:p.Q845H 0.2 0.1 0.23 0.17 0.26 0.25 0.2628 0.1555 0.2743 0.2085 0.2771 0.2775 0.2610 0.2802 0.2 0.12 0.23 0.22 . rs7522194 . . . . . . . . . . . . . 0.022 0.486 D 0.996 0.670 D 0.804 0.565 P 0.338 0.140 N 1 0.090 P 2.045 0.562 M 2.45 0.150 T -1.38 0.342 N 0.099 0.101 -1.022 0.231 T 0.000 0.000 T . . . 1.904 0.290 15.62 0.966 0.298 0.151 0.185 N c -0.337 -0.499 0.020 0.132 0.615 0.372 0 2.97 0.333 1.369 0.336 0.077 0.185 0.054 0.214 0.017 0.128 7.955 0.290 . . . 0.2277 0.1261 0.2153 0.2721 0.1767 0.2415 0.2410 0.2412 0.2457 0.2139 0.1276 0.2243 0.24 0.1735 0.2490 0.2554 0.2725 het 246.15 25 1 177905469 . C A 246.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.969;DP=25;Dels=0.00;FS=3.619;HRun=0;HaplotypeScore=0.0000;MQ=56.39;MQ0=0;MQRankSum=-0.356;QD=9.85;ReadPosRankSum=0.411;VQSLOD=3.6394;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,11:25:99:276,0,412 1 177923440 177923440 T G exonic SEC16B synonymous SNV SEC16B:NM_033127:exon11:c.A1437C:p.P479P 0.17 0.18 0.2 0.029 0.23 0.21 0.3139 0.2725 0.4233 0.0604 0.3596 0.3554 0.3067 0.2353 0.22 0.18 0.23 0.18 . rs12129817 COSM3750638 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2114 0.1919 0.1989 0.2517 0.0203 0.2422 0.2382 0.2230 0.2093 0.2135 0.1926 0.1850 0.2285 0.0136 0.2447 0.2409 0.2193 het 308.52 19 1 177923440 . T G 308.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.447;DP=19;Dels=0.00;FS=2.077;HRun=3;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=-1.184;QD=16.24;ReadPosRankSum=0.044;VQSLOD=5.4117;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,13:19:99:339,0,116 1 177929987 177929987 T C exonic SEC16B nonsynonymous SNV SEC16B:NM_033127:exon7:c.A875G:p.H292R 0.81 0.89 0.79 0.81 0.75 0.78 0.7723 0.8663 0.7752 0.8020 0.7121 0.7564 0.7662 0.7875 0.81 0.87 0.77 0.79 . rs12040910 COSM4143067 1(thyroid) . . . . . . . . . . . 0.38 0.120 T 0.0 0.026 B 0.0 0.040 B 0.670 0.103 N 1 0.090 P -0.6 0.022 N 1.01 0.411 T 1.8 0.005 N 0.052 0.034 -1.024 0.224 T 0.000 0.000 T . . . 0.960 0.186 10.43 0.758 0.108 0.006 0.026 N c -1.025 -0.905 0.613 0.218 0.554 0.283 0 2.46 0.289 0.957 0.286 -0.328 0.075 0.005 0.169 0.303 0.238 6.825 0.229 Sec16\x2c central conserved domain . . 0.7679 0.8672 0.7823 0.6958 0.8004 0.7022 0.7609 0.7505 0.7832 0.7800 0.8675 0.7864 0.7616 0.8035 0.7029 0.7479 0.7281 het 924.34 68 1 177929987 . T C 924.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.135;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.80;MQ0=0;MQRankSum=0.129;QD=13.59;ReadPosRankSum=-0.006;VQSLOD=6.1732;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,34:68:99:954,0,887 1 178489978 178489978 T G exonic TEX35 nonsynonymous SNV TEX35:NM_001170722:exon7:c.T536G:p.L179R,TEX35:NM_001170723:exon7:c.T512G:p.L171R,TEX35:NM_001170724:exon7:c.T512G:p.L171R,TEX35:NM_032126:exon7:c.T512G:p.L171R 0.37 0.22 0.48 0.41 0.45 0.36 0.4016 0.2579 0.4263 0.3970 0.4547 0.4154 0.4346 0.3987 0.37 0.28 0.41 0.48 0.42 rs3813636 COSM3930519;COSM3930522;COSM3930521;COSM3930524;COSM3930523;COSM3930520 1(urinary_tract);1(thyroid) . . . . . . . . . . . 0.045 0.501 D 0.95 0.519 P 0.648 0.523 P 0.732 0.064 N 1 0.090 P 0.895 0.225 L 1.74 0.263 T -3.22 0.698 D 0.297 0.357 -0.932 0.438 T 0.000 0.000 T . . . 3.674 0.499 23.3 0.993 0.582 0.039 0.092 N c -0.376 -0.569 0.608 0.218 0.554 0.283 0 1.82 0.241 0.082 0.146 1.011 0.635 0.004 0.165 0.087 0.184 5.125 0.141 . ENSG00000188585.6|ENSG00000240021.5 Nerve_Tibial|Testis 0.4084 0.2517 0.4319 0.4022 0.3895 0.4596 0.4191 0.4313 0.3932 0.3751 0.2557 0.4294 0.4007 0.3826 0.4536 0.4187 0.4236 het 823.60 80 1 178489978 . T G 823.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DP=80;Dels=0.00;FS=2.217;HRun=2;HaplotypeScore=0.8941;MQ=58.77;MQ0=0;MQRankSum=0.880;QD=10.30;ReadPosRankSum=0.204;VQSLOD=6.4442;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,33:80:99:854,0,1365 1 179055020 179055020 C T exonic TOR3A synonymous SNV TOR3A:NM_022371:exon3:c.C631T:p.L211L 0.13 0.11 0.066 0.26 0.14 0.074 0.1271 0.1095 0.0706 0.2469 0.1701 0.1297 0.1272 0.0874 0.12 0.11 0.12 0.13 0.2 rs2296376 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1278 0.1084 0.0785 0.1300 0.2490 0.1713 0.1284 0.1265 0.0894 0.1344 0.1080 0.0979 0.1391 0.2417 0.1634 0.1321 0.1538 hom 2427.72 74 1 179055020 . C T 2427.72 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.69;MQ0=0;QD=32.81;VQSLOD=9.8460;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2461,193,0 1 179310262 179310262 C T exonic SOAT1 synonymous SNV SOAT1:NM_001252511:exon6:c.C423T:p.P141P,SOAT1:NM_001252512:exon6:c.C402T:p.P134P,SOAT1:NM_003101:exon7:c.C597T:p.P199P 0.28 0.14 0.24 0.48 0.24 0.35 0.2415 0.1336 0.2684 0.4767 0.2183 0.2067 0.2577 0.3168 0.19 0.14 0.21 0.27 0.26 rs11576517 COSM146697 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2465 0.1339 0.2620 0.1931 0.4791 0.2167 0.2119 0.2400 0.3200 0.2070 0.1411 0.2656 0.2086 0.4544 0.2168 0.2128 0.2149 het 2376.74 249 1 179310262 . C T 2376.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.195;DP=249;DS;Dels=0.00;FS=0.518;HRun=1;HaplotypeScore=1.8650;MQ=58.65;MQ0=0;MQRankSum=0.564;QD=9.55;ReadPosRankSum=1.791;VQSLOD=5.8605;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:157,92:249:99:2407,0,4256 1 179414105 179414105 A C exonic AXDND1 nonsynonymous SNV AXDND1:NM_144696:exon16:c.A1564C:p.I522L 0.21 0.29 0.24 0.053 0.28 0.19 0.2849 0.2970 0.2633 0.0460 0.3807 0.3237 0.2639 0.2233 0.3 0.28 0.31 0.17 0.31 rs11577579 COSM146698 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.495 0.214 T 0.0 0.026 B 0.001 0.040 B 0.095 0.201 N 1.000 0.208 P 0.895 0.225 L 2.27 0.429 T -0.02 0.073 N 0.086 0.081 -0.936 0.432 T 0.000 0.000 T . . . -0.428 0.060 0.331 0.824 0.137 0.113 0.163 N c -1.133 -1.117 0.000 0.012 0.487 0.133 0 0.62 0.167 0.035 0.136 -0.569 0.046 0.142 0.233 0.005 0.090 7.962 0.291 . ENSG00000162779.16|ENSG00000162782.11|ENSG00000162782.11|ENSG00000162782.11|ENSG00000162779.16|ENSG00000261250.1|ENSG00000162782.11|ENSG00000162782.11|ENSG00000162779.16|ENSG00000186283.9|ENSG00000162779.16|ENSG00000162779.16|ENSG00000162782.11|ENSG00000057252.8|ENSG00000143322.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Colon_Transverse|Colon_Transverse|Lung|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2817 0.2949 0.2634 0.3232 0.0455 0.3799 0.3164 0.2915 0.2152 0.3059 0.2923 0.2590 0.2867 0.0328 0.3840 0.3258 0.3439 hom 1439.27 53 1 179414105 . A C 1439.27 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.750;DP=53;Dels=0.00;FS=5.315;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;MQRankSum=-0.957;QD=27.16;ReadPosRankSum=0.210;VQSLOD=3.7661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,51:53:80.38:1472,80,0 1 179520506 179520506 G A exonic NPHS2 synonymous SNV NPHS2:NM_001297575:exon7:c.C750T:p.A250A,NPHS2:NM_014625:exon8:c.C954T:p.A318A 0.59 0.59 0.63 0.49 0.62 0.62 0.6192 0.5972 0.6658 0.4806 0.6241 0.6358 0.6112 0.6042 0.62 0.6 0.63 0.56 0.62 rs1410592 COSM146700 1(stomach) Benign|Likely benign not_specified|Steroid-resistant_nephrotic_syndrome RCV000243457.1|RCV000289839.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0012588:C0403397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6197 0.6013 0.6667 0.6606 0.4724 0.6234 0.6310 0.6200 0.6031 0.6105 0.6033 0.6502 0.6433 0.4371 0.6166 0.6280 0.6273 hom 4199.80 125 1 179520506 . G A 4199.80 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.85;MQ0=0;QD=33.60;VQSLOD=9.5621;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:4199,328,0 1 179631242 179631242 G A exonic TDRD5 nonsynonymous SNV TDRD5:NM_001199092:exon11:c.G829A:p.E277K,TDRD5:NM_001199091:exon14:c.G2164A:p.E722K,TDRD5:NM_001349923:exon14:c.G2164A:p.E722K,TDRD5:NM_173533:exon14:c.G2164A:p.E722K,TDRD5:NM_001199085:exon15:c.G2326A:p.E776K,TDRD5:NM_001199089:exon15:c.G2326A:p.E776K 0.1 0.013 0.098 0.046 0.21 0.17 0.1981 0.0435 0.1004 0.0380 0.2930 0.2487 0.2122 0.2068 0.17 0.044 0.24 0.098 0.18 rs35448215 COSM146701;COSM4143078 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.026 0.473 D 0.374 0.556 B 0.094 0.485 B 0.141 0.183 N 0.971 0.257 P 2.005 0.547 M 2.22 0.389 T -1.39 0.344 N 0.157 0.232 -1.053 0.136 T 0.000 0.000 T . . . 3.683 0.500 23.3 0.999 0.941 0.863 0.453 D c 0.248 0.308 0.000 0.057 0.554 0.246 0 4.49 0.540 2.586 0.455 1.040 0.660 1.000 0.715 0.990 0.544 9.396 0.374 . ENSG00000162782.11|ENSG00000162779.16|ENSG00000261250.1|ENSG00000227141.2|ENSG00000162782.11|ENSG00000162779.16|ENSG00000143340.6|ENSG00000057252.8 Artery_Tibial|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Thyroid|Thyroid|Whole_Blood 0.1993 0.0366 0.1005 0.3154 0.0370 0.2924 0.2378 0.2143 0.1771 0.1804 0.0407 0.1146 0.2616 0.0328 0.3007 0.2492 0.2198 hom 3858.96 128 1 179631242 . G A 3858.96 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3609;MQ=59.30;MQ0=0;QD=30.15;VQSLOD=8.3999;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:3858,304,0 1 179852074 179852074 T C exonic TOR1AIP1 nonsynonymous SNV TOR1AIP1:NM_001267578:exon1:c.T437C:p.M146T,TOR1AIP1:NM_015602:exon1:c.T437C:p.M146T 0.61 0.38 0.68 0.78 0.61 0.69 0.6503 0.4441 0.7847 0.7640 0.5679 0.6437 0.5943 0.6743 0.57 0.44 0.63 0.61 0.5 rs1281378 COSM4143081 1(thyroid) Benign not_specified RCV000242478.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.441 0.126 N 1 0.090 P -1.325 0.007 N 2.05 0.207 T 1.38 0.010 N 0.014 0.213 -1.002 0.293 T 0.000 0.000 T . . . -2.353 0.004 0.001 0.655 0.076 0.003 0.017 N c -1.687 -1.613 1.0 0.983 0.442 0.072 0 -1.54 0.081 0.476 0.217 0.010 0.139 0.014 0.188 0.006 0.095 3.635 0.076 . ENSG00000261831.2 Testis 0.6488 0.4233 0.7670 0.6591 0.7600 0.5697 0.6355 0.6469 0.6690 0.5691 0.4242 0.7428 0.6733 0.7515 0.5654 0.6202 0.6082 het 519.53 35 1 179852074 . T C 519.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.826;DP=35;Dels=0.00;FS=1.619;HRun=0;HaplotypeScore=2.5407;MQ=59.34;MQ0=0;MQRankSum=-0.393;QD=14.84;ReadPosRankSum=-0.427;VQSLOD=6.5361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,22:35:99:550,0,369 1 179876988 179876988 C G exonic TOR1AIP1 nonsynonymous SNV TOR1AIP1:NM_001267578:exon7:c.C830G:p.P277R,TOR1AIP1:NM_015602:exon7:c.C827G:p.P276R 0.58 0.3 0.67 0.78 0.61 0.67 0.6329 0.3536 0.7770 0.7596 0.5556 0.6346 0.5896 0.6676 0.54 0.37 0.63 0.56 0.52 rs609521 . . Benign not_specified RCV000247762.1 MedGen CN169374 . . . . . . 0.129 0.319 T 0.175 0.434 B 0.104 0.402 B 0.872 0.072 N 1 0.090 P 2.215 0.627 M 0.96 0.429 T -2.6 0.559 D 0.104 0.235 -0.981 0.348 T 0.000 0.000 T . . . 1.038 0.193 10.87 0.939 0.233 0.195 0.205 N c -0.459 -0.545 0.049 0.148 0.732 0.924 0 3.81 0.429 1.732 0.375 0.928 0.438 0.003 0.159 0.011 0.114 10.068 0.413 . ENSG00000143337.14|ENSG00000169905.8|ENSG00000261831.2 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Testis 0.6311 0.3364 0.7580 0.6535 0.7456 0.5622 0.6254 0.6329 0.6501 0.5469 0.3483 0.7480 0.6701 0.7497 0.5733 0.6177 0.6133 het 1108.83 101 1 179876988 . C G 1108.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.708;DP=101;Dels=0.00;FS=1.612;HRun=0;HaplotypeScore=1.9982;MQ=56.01;MQ0=0;MQRankSum=0.092;QD=10.98;ReadPosRankSum=0.650;VQSLOD=3.1068;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,47:101:99:1139,0,1358 1 179887125 179887125 G A exonic TOR1AIP1 synonymous SNV TOR1AIP1:NM_001267578:exon10:c.G1506A:p.A502A,TOR1AIP1:NM_015602:exon10:c.G1503A:p.A501A 0.92 0.84 0.95 0.91 0.95 0.96 0.9485 0.8754 0.9649 0.9008 0.9791 0.9579 0.9427 0.9580 0.93 0.87 0.95 0.91 0.93 rs627897 . . Benign not_specified RCV000250769.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9501 0.8750 0.9621 0.9575 0.8996 0.9795 0.9560 0.9535 0.9566 0.9340 0.8760 0.9475 0.9503 0.8954 0.9782 0.9586 0.9623 hom 3609.28 116 1 179887125 . G A 3609.28 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=58.95;MQ0=0;QD=31.11;VQSLOD=9.1073;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3609,280,0 1 180243524 180243524 A G exonic LHX4 nonsynonymous SNV LHX4:NM_033343:exon6:c.A983G:p.N328S 0.43 0.12 0.33 0.59 0.55 0.62 0.4850 0.1875 0.2390 0.5837 0.5661 0.5253 0.4890 0.5981 0.41 0.2 0.52 0.39 0.54 rs7536561 COSM3746684 1(pancreas);1(liver);1(thyroid);1(large_intestine) Benign|Benign not_specified|Combined_Pituitary_Hormone_Deficiency\x2c_Dominant RCV000242291.1|RCV000313852.1 MedGen|MedGen CN169374|CN239342 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.000 0.477 P -0.03 0.050 N -2.24 0.872 D -0.06 0.079 N 0.033 0.013 -0.956 0.399 T 0.000 0.000 T . . . -0.369 0.064 0.458 0.774 0.115 0.920 0.544 D c -0.548 -0.327 1.000 0.409 0.660 0.495 0 3.27 0.364 2.525 0.450 1.199 0.960 1.000 0.715 1.000 0.888 6.920 0.234 . ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000230124.2|ENSG00000121454.4|ENSG00000230124.2|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000121454.4|ENSG00000230124.2|ENSG00000121454.4 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid 0.4835 0.1809 0.2550 0.5191 0.5897 0.5776 0.5227 0.4896 0.6011 0.4295 0.1917 0.2840 0.5878 0.6141 0.5750 0.5128 0.5297 het 3114.41 250 1 180243524 . A G 3114.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.864;DP=250;DS;Dels=0.00;FS=6.732;HRun=0;HaplotypeScore=6.9677;MQ=59.30;MQ0=0;MQRankSum=2.198;QD=12.46;ReadPosRankSum=2.156;VQSLOD=3.5977;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:3144,0,3814 1 180885430 180885430 T C exonic KIAA1614 nonsynonymous SNV KIAA1614:NM_020950:exon2:c.T191C:p.L64P 0.99 0.98 1. 1. 1. 1. 0.9984 0.9857 0.9991 1 0.9998 0.9995 0.9978 0.9992 1. 0.99 1. 0.99 0.98 rs10732273 COSM4143090 1(thyroid) . . . . . . . . . . . 0.076 0.342 T 0.0 0.026 B 0.0 0.013 B 0.016 0.014 N 1 0.090 P 0.625 0.159 N 3.35 0.060 T -1.53 0.372 N 0.031 0.012 -0.936 0.433 T 0.000 0.000 T . . . -1.163 0.026 0.008 0.594 0.061 0.007 0.029 N c -1.741 -1.841 1.000 0.747 0.554 0.283 0 -8.68 0.007 -0.943 0.040 -0.747 0.035 0.000 0.063 0.000 0.016 1.857 0.030 . . . 0.9986 0.9852 0.9989 0.9995 0.9999 0.9997 0.9995 0.9993 0.9993 0.9954 0.9861 0.9988 1 0.9994 1 0.9989 0.9980 hom 1543.42 46 1 180885430 . T C 1543.42 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;QD=33.55;VQSLOD=9.0204;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1576,126,0 1 180897569 180897569 C T exonic KIAA1614 synonymous SNV KIAA1614:NM_020950:exon4:c.C1065T:p.T355T 0.39 0.27 0.41 0.55 0.41 0.35 0.4171 0.2980 0.3992 0.5652 0.4560 0.4250 0.4444 0.3715 0.37 0.28 0.41 0.38 0.42 rs3747958 COSM3746685 2(breast);3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4151 0.2915 0.3972 0.4749 0.5668 0.4545 0.4148 0.4251 0.3620 0.3991 0.2921 0.3962 0.4669 0.5785 0.4539 0.4267 0.4192 het 3044.12 239 1 180897569 . C T 3044.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.245;DP=239;DS;Dels=0.00;FS=1.876;HRun=0;HaplotypeScore=8.6357;MQ=59.33;MQ0=0;MQRankSum=-0.182;QD=12.74;ReadPosRankSum=-1.658;VQSLOD=3.9015;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,114:239:99:3074,0,3082 1 180905263 180905263 C T exonic KIAA1614 nonsynonymous SNV KIAA1614:NM_020950:exon5:c.C2218T:p.R740W 0.023 0.003 0.069 . 0.036 0.03 0.0392 0.0087 0.1196 0 0.0215 0.0365 0.0346 0.0397 0.032 0.011 0.042 0.022 0.025 rs17302207 . . . . . . . . . . . . . 0.072 0.355 T 0.0 0.026 B 0.0 0.013 B 0.049 0.020 N 1 0.090 N 0.205 0.094 N 2.48 0.237 T -0.98 0.260 N 0.031 0.015 -1.034 0.193 T 0.009 0.031 T . . . 1.034 0.193 10.85 0.823 0.136 0.018 0.055 N c -1.639 -1.772 1.000 0.747 0.581 0.326 0 -8.65 0.008 -3.307 0.006 -1.190 0.016 0.000 0.063 0.000 0.016 5.955 0.184 Domain of unknown function DUF4685 . . 0.0425 0.0079 0.1162 0.0092 5.798e-05 0.0249 0.0394 0.0356 0.0394 0.0284 0.0065 0.0943 0.0099 0 0.0275 0.0410 0.0295 het 943.16 63 1 180905263 . C T 943.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.743;DP=63;Dels=0.00;FS=0.954;HRun=0;HaplotypeScore=0.9993;MQ=59.27;MQ0=0;MQRankSum=-0.708;QD=14.97;ReadPosRankSum=-0.859;VQSLOD=6.0390;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,31:63:99:973,0,897 1 180905352 180905352 C T exonic KIAA1614 synonymous SNV KIAA1614:NM_020950:exon5:c.C2307T:p.S769S 0.33 0.15 0.4 0.26 0.42 0.51 0.3930 0.1912 0.3870 0.2657 0.3893 0.4146 0.3764 0.4981 0.34 0.19 0.41 0.34 0.39 rs3795505 COSM5021297 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3963 0.1849 0.3909 0.3717 0.2601 0.3840 0.4239 0.4083 0.4978 0.3346 0.1941 0.3878 0.4238 0.2340 0.3818 0.4080 0.3918 het 1029.05 124 1 180905352 . C T 1029.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.671;DP=124;Dels=0.00;FS=6.279;HRun=0;HaplotypeScore=2.4441;MQ=59.40;MQ0=0;MQRankSum=-0.880;QD=8.30;ReadPosRankSum=-0.721;VQSLOD=4.3357;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,47:124:99:1059,0,2178 1 180905448 180905448 G T exonic KIAA1614 nonsynonymous SNV KIAA1614:NM_020950:exon5:c.G2403T:p.L801F 0.4 0.35 0.43 0.27 0.45 0.53 0.4349 0.3806 0.4149 0.2795 0.4116 0.4461 0.4120 0.5271 0.42 0.37 0.44 0.37 0.44 rs3795504 COSM4998020 1(bone);1(pancreas) . . . . . . . . . . . 0.264 0.164 T 0.0 0.026 B 0.001 0.040 B 0.897 0.086 N 1 0.090 P 0.425 0.126 N 0.97 0.425 T -0.71 0.202 N 0.017 0.003 -0.903 0.477 T 0.000 0.000 T . . . -0.665 0.047 0.087 0.186 0.006 0.023 0.065 N c -1.432 -1.394 1.000 0.747 0.646 0.450 0 2.38 0.283 0.028 0.134 -1.222 0.015 0.000 0.063 0.000 0.016 4.419 0.108 Domain of unknown function DUF4685 ENSG00000135835.6|ENSG00000135835.6 Cells_Transformed_fibroblasts|Heart_Left_Ventricle 0.4342 0.3780 0.4182 0.4107 0.2731 0.4063 0.4533 0.4476 0.5259 0.4078 0.3805 0.4200 0.46 0.2472 0.4048 0.4390 0.4255 het 1008.86 115 1 180905448 . G T 1008.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.774;DP=115;Dels=0.00;FS=1.756;HRun=2;HaplotypeScore=1.7319;MQ=59.13;MQ0=0;MQRankSum=1.731;QD=8.77;ReadPosRankSum=0.201;VQSLOD=5.9327;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,41:115:99:1039,0,2023 1 180913597 180913597 A G exonic KIAA1614 nonsynonymous SNV KIAA1614:NM_020950:exon8:c.A3232G:p.N1078D 1. 0.99 1. 1. 1. 1. 0.9988 0.9856 0.9995 1 1 1 1 1 1. 0.99 1. 0.98 1. rs2331995 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.241 0.157 N 1.000 0.090 P -2.33 0.001 N 2.89 0.166 T 3.24 0.001 N 0.002 0.000 -0.988 0.332 T 0.000 0.000 T . . . 1.019 0.192 10.77 0.733 0.099 0.047 0.103 N c -1.011 -0.719 1.000 0.747 0.534 0.214 0 4.94 0.645 2.378 0.437 0.104 0.200 0.986 0.359 0.966 0.452 9.512 0.381 . . . 0.9989 0.9838 0.9993 1 1 1 1.0000 0.9998 1 0.9955 0.9847 0.9988 1 1 1 0.9999 0.9990 hom 2364.72 86 1 180913597 . A G 2364.72 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=6.1397;MQ=59.03;MQ0=0;QD=27.50;VQSLOD=5.6008;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,85:86:99:2398,193,0 1 180953853 180953853 A G exonic STX6 synonymous SNV STX6:NM_001286210:exon5:c.T348C:p.N116N,STX6:NM_005819:exon7:c.T651C:p.N217N 0.52 0.45 0.63 0.63 0.57 0.4 0.5745 0.4764 0.6745 0.6183 0.6696 0.5910 0.5661 0.4383 0.55 0.48 0.59 0.55 0.52 rs3747957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5801 0.4633 0.6685 0.5192 0.6176 0.6687 0.5908 0.5808 0.4379 0.5645 0.4659 0.6492 0.5033 0.6453 0.6548 0.5881 0.5697 het 941.23 81 1 180953853 . A G 941.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.622;DP=81;Dels=0.00;FS=4.203;HRun=0;HaplotypeScore=3.9635;MQ=59.54;MQ0=0;MQRankSum=0.062;QD=11.62;ReadPosRankSum=-0.640;VQSLOD=5.5130;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,44:81:99:971,0,860 1 181706685 181706685 C T exonic CACNA1E synonymous SNV CACNA1E:NM_001205294:exon22:c.C3390T:p.I1130I,CACNA1E:NM_000721:exon23:c.C3447T:p.I1149I,CACNA1E:NM_001205293:exon23:c.C3447T:p.I1149I 0.18 0.26 0.15 0.051 0.16 0.26 0.1545 0.2311 0.1351 0.0415 0.1306 0.1395 0.1637 0.2511 0.16 0.21 0.14 0.16 . rs34488539 COSM5618943;COSM5618944;COSM3750672;COSM3750674;COSM3750673 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1519 0.2332 0.1377 0.1571 0.0441 0.1268 0.1401 0.1373 0.2491 0.1603 0.2260 0.1325 0.1358 0.0419 0.1237 0.1460 0.1548 het 1011.33 82 1 181706685 . C T 1011.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.409;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6229;MQ=59.15;MQ0=0;MQRankSum=0.844;QD=12.33;ReadPosRankSum=1.509;VQSLOD=5.5920;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,35:82:99:1041,0,1392 1 181725110 181725110 T C exonic CACNA1E synonymous SNV CACNA1E:NM_001205294:exon28:c.T3951C:p.H1317H,CACNA1E:NM_000721:exon29:c.T4008C:p.H1336H,CACNA1E:NM_001205293:exon29:c.T4008C:p.H1336H 0.32 0.49 0.33 0.075 0.29 0.37 0.2845 0.4498 0.3217 0.0571 0.2622 0.2627 0.3020 0.3754 0.32 0.42 0.27 0.35 . rs4652678 COSM3750676;COSM5827618;COSM3750677;COSM3750675;COSM5827619 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2834 0.4555 0.3209 0.2363 0.0587 0.2633 0.2676 0.2792 0.3704 0.3125 0.4440 0.3153 0.2020 0.0543 0.2602 0.2795 0.2949 het 589.21 49 1 181725110 . T C 589.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.227;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7219;MQ=59.62;MQ0=0;MQRankSum=1.041;QD=12.02;ReadPosRankSum=1.784;VQSLOD=6.1486;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,24:49:99:619,0,672 1 181741301 181741301 C T exonic CACNA1E synonymous SNV CACNA1E:NM_001205294:exon36:c.C5016T:p.N1672N,CACNA1E:NM_000721:exon37:c.C5073T:p.N1691N,CACNA1E:NM_001205293:exon37:c.C5073T:p.N1691N 0.25 0.28 0.28 0.075 0.26 0.34 0.2485 0.2656 0.3050 0.0564 0.2391 0.2370 0.2816 0.3473 0.25 0.25 0.25 0.27 . rs199930 COSM5437184;COSM5437183;COSM3750678;COSM3750680;COSM3750679 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2494 0.2621 0.2966 0.1963 0.0586 0.2415 0.2431 0.2548 0.3433 0.2428 0.2587 0.2764 0.1656 0.0556 0.2420 0.2528 0.2561 het 2562.24 250 1 181741301 . C T 2562.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.078;DP=250;DS;Dels=0.00;FS=3.019;HRun=0;HaplotypeScore=6.5539;MQ=58.87;MQ0=0;MQRankSum=-2.107;QD=10.25;ReadPosRankSum=0.158;VQSLOD=3.4963;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:150,97:250:99:2592,0,4172 1 182026813 182026813 G C exonic ZNF648 nonsynonymous SNV ZNF648:NM_001009992:exon2:c.C333G:p.N111K 0.18 0.09 0.12 0.28 0.15 0.25 0.1683 0.0957 0.1745 0.2663 0.1952 0.1389 0.1806 0.2658 0.12 0.097 0.14 0.22 0.16 rs12568050 . . . . . . . . . . . . . 0.171 0.227 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P 0.345 0.112 N 3.32 0.062 T 0.03 0.066 N 0.021 0.005 -0.937 0.431 T 0.000 0.000 T . . . 0.598 0.151 8.142 0.460 0.036 0.019 0.057 N c -2.121 -2.176 0.991 0.323 0.765 0.991 0 -4.0 0.038 -0.985 0.038 -2.167 0.004 0.000 0.063 0.000 0.016 6.409 0.207 . ENSG00000224810.1 Nerve_Tibial 0.1683 0.0900 0.1616 0.1221 0.2704 0.1977 0.1391 0.1617 0.2583 0.1432 0.0976 0.1432 0.1093 0.2785 0.2011 0.1413 0.1609 het 1083.53 104 1 182026813 . G C 1083.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.012;DP=104;Dels=0.00;FS=0.739;HRun=1;HaplotypeScore=1.7297;MQ=59.28;MQ0=0;MQRankSum=-0.301;QD=10.42;ReadPosRankSum=1.660;VQSLOD=5.9754;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,42:104:99:1114,0,1624 1 182027022 182027022 C T exonic ZNF648 nonsynonymous SNV ZNF648:NM_001009992:exon2:c.G124A:p.E42K 0.18 0.086 0.12 0.28 0.15 0.25 0.1681 0.0914 0.1739 0.2656 0.1955 0.1392 0.1814 0.2658 0.12 0.093 0.14 0.22 0.16 rs12564283 COSM5733180 1(pancreas) . . . . . . . . . . . 0.279 0.155 T 0.002 0.090 B 0.001 0.040 B . . . 1 0.090 P 0.55 0.145 N 3.13 0.080 T -0.18 0.098 N 0.089 0.086 -0.899 0.481 T 0.000 0.000 T . . . 0.851 0.175 9.775 0.963 0.288 0.070 0.128 N c -1.120 -1.160 0.900 0.260 0.487 0.133 0 0.787 0.177 0.467 0.216 0.789 0.320 0.000 0.063 0.037 0.154 7.042 0.240 . ENSG00000224810.1 Nerve_Tibial 0.1680 0.0854 0.1612 0.1221 0.2701 0.1976 0.1391 0.1613 0.2582 0.1426 0.0945 0.1420 0.1093 0.2782 0.2014 0.1417 0.1609 het 2073 173 1 182027022 . C T 2073 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.373;DP=173;Dels=0.00;FS=1.212;HRun=1;HaplotypeScore=4.6687;MQ=58.67;MQ0=0;MQRankSum=0.158;QD=11.98;ReadPosRankSum=-0.541;VQSLOD=5.7390;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,84:173:99:2103,0,2338 1 182356399 182356399 A G exonic GLUL synonymous SNV GLUL:NM_001033044:exon3:c.T195C:p.S65S,GLUL:NM_001033056:exon3:c.T195C:p.S65S,GLUL:NM_002065:exon4:c.T195C:p.S65S 0.68 0.75 0.62 0.83 0.54 0.6 0.5748 0.7380 0.5786 0.8435 0.4841 0.5159 0.5782 0.6026 0.59 0.74 0.52 0.69 0.39 rs1058111 COSM5652778 1(haematopoietic_and_lymphoid_tissue) Benign Glutamine_deficiency\x2c_congenital RCV000402945.1 MedGen:OMIM:Orphanet C1864910:610015:ORPHA71278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5705 0.7392 0.5705 0.5981 0.8476 0.4826 0.5119 0.5642 0.6000 0.5940 0.7353 0.5526 0.6133 0.8550 0.4831 0.5161 0.5257 hom 5096.23 167 1 182356399 . A G 5096.23 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9601;MQ=59.36;MQ0=0;QD=30.52;VQSLOD=8.9853;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5096,382,0 1 182369078 182369078 G A exonic TEDDM1 synonymous SNV TEDDM1:NM_172000:exon1:c.C543T:p.P181P 0.85 0.96 0.82 0.84 0.82 0.8 0.8151 0.9324 0.8107 0.8507 0.7797 0.8007 0.8139 0.7979 0.84 0.93 0.79 0.86 0.77 rs6698722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8127 0.9346 0.8132 0.8817 0.8519 0.7812 0.7934 0.8198 0.7993 0.8379 0.9316 0.8234 0.8940 0.8571 0.7841 0.7951 0.8143 hom 3781.95 114 1 182369078 . G A 3781.95 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7109;MQ=59.56;MQ0=0;QD=33.17;VQSLOD=8.0263;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3782,292,0 1 182369233 182369233 A G exonic TEDDM1 nonsynonymous SNV TEDDM1:NM_172000:exon1:c.T388C:p.Y130H 0.68 0.76 0.61 0.83 0.54 0.6 0.5751 0.7480 0.5789 0.8415 0.4829 0.5151 0.5771 0.6034 0.59 0.74 0.52 0.7 0.39 rs6674281 COSM5419980 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -3.53 0.000 N 1.48 0.317 T 5.69 0.000 N 0.122 0.137 -0.958 0.396 T 0.000 0.000 T . . . -0.975 0.033 0.018 0.094 0.001 0.004 0.020 N c -1.215 -0.965 0.996 0.344 0.487 0.133 0 5.05 0.674 3.106 0.498 0.138 0.222 0.929 0.320 0.013 0.120 11.533 0.497 . ENSG00000135821.12 Cells_Transformed_fibroblasts 0.5709 0.7492 0.5712 0.5965 0.8449 0.4822 0.5114 0.5637 0.6009 0.5947 0.7474 0.5538 0.6159 0.8506 0.4814 0.5110 0.5307 hom 8258.32 249 1 182369233 . A G 8258.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4821;MQ=59.24;MQ0=0;MQRankSum=-1.215;QD=33.17;ReadPosRankSum=0.782;VQSLOD=7.9585;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,248:249:99:8258,635,0 1 182569626 182569626 T C exonic RGS16 nonsynonymous SNV RGS16:NM_002928:exon5:c.A410G:p.H137R 0.99 0.98 0.99 1. 0.98 0.99 0.9824 0.9781 0.9915 1 0.9862 0.9759 0.9835 0.9942 0.97 0.98 0.97 0.99 0.98 rs1144566 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.217 P -3.22 0.000 N 1.9 0.235 T 4.24 0.000 N 0.089 0.086 -0.948 0.414 T 0.000 0.000 T . . . -0.446 0.059 0.299 0.225 0.009 0.074 0.133 N c -1.096 -0.755 1.000 0.747 0.722 0.854 0 5.3 0.746 3.149 0.501 0.030 0.149 1.000 0.715 0.652 0.299 13.828 0.627 RGS domain . . 0.9831 0.9795 0.9907 0.9934 0.9999 0.9877 0.9736 0.9828 0.9940 0.9781 0.9798 0.9905 0.9934 1 0.9874 0.9712 0.9857 hom 4570.18 155 1 182569626 . T C 4570.18 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=29.49;VQSLOD=8.7615;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4569,388,0 1 182850727 182850727 T C exonic DHX9 synonymous SNV DHX9:NM_001357:exon24:c.T2859C:p.T953T 0.98 0.95 0.99 1. 1. 1. 0.9963 0.9573 0.9984 1 1 0.9999 0.9989 0.9999 0.99 0.96 1. 0.98 1. rs6677840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9968 0.9545 0.9982 1 1 1 0.9999 0.9982 0.9998 0.9884 0.9591 0.9988 1 1 1 1 1 hom 5689.66 182 1 182850727 . T C 5689.66 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7465;MQ=59.15;MQ0=0;QD=31.26;VQSLOD=8.6149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5689,430,0 1 183486859 183486859 G A exonic SMG7 synonymous SNV SMG7:NM_001174061:exon3:c.G90A:p.L30L,SMG7:NM_173156:exon4:c.G216A:p.L72L,SMG7:NM_201568:exon4:c.G216A:p.L72L,SMG7:NM_201569:exon4:c.G216A:p.L72L,SMG7:NM_001331007:exon5:c.G303A:p.L101L,SMG7:NM_001350219:exon6:c.G303A:p.L101L,SMG7:NM_001350220:exon6:c.G303A:p.L101L,SMG7:NM_001350221:exon6:c.G303A:p.L101L 0.94 0.96 0.91 1. 0.87 0.96 0.9037 0.9510 0.9365 0.9992 0.9100 0.8689 0.8822 0.9399 0.9 0.95 0.87 0.96 0.86 rs789169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9032 0.9527 0.9306 0.7890 0.9994 0.9089 0.8736 0.8752 0.9393 0.9089 0.9501 0.9189 0.7781 0.9994 0.9075 0.8784 0.8951 hom 5974.13 200 1 183486859 . G A 5974.13 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=29.87;VQSLOD=8.6498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:5973,478,0 1 183532580 183532580 G T exonic NCF2 nonsynonymous SNV NCF2:NM_001190789:exon10:c.C924A:p.H308Q,NCF2:NM_001190794:exon11:c.C1032A:p.H344Q,NCF2:NM_000433:exon12:c.C1167A:p.H389Q,NCF2:NM_001127651:exon13:c.C1167A:p.H389Q 0.018 . 0.025 . 0.06 0.014 0.0343 0.0088 0.0238 0.0007 0.0376 0.0491 0.0485 0.0132 0.037 0.011 0.05 0.011 0.041 rs17849502 COSM1178273 2(soft_tissue);1(prostate) Benign|Likely benign not_specified|Chronic_granulomatous_disease RCV000253292.1|RCV000306202.1 MedGen|MedGen:Orphanet CN169374|C0018203:ORPHA379 . . . . . . 0.215 0.453 T 0.999 0.899 D 0.998 0.875 D 0.007 0.314 N 0.809 0.290 N 2.78 0.814 M 2.05 0.207 T -2.71 0.945 D 0.293 0.353 -1.060 0.117 T 0.015 0.063 T . . . 3.430 0.470 23.0 0.994 0.632 0.792 0.389 D c 0.295 0.221 0.885 0.257 0.632 0.406 0 1.72 0.234 1.706 0.373 1.048 0.713 1.000 0.715 0.960 0.441 10.473 0.436 PB1 domain;SH3 domain . . 0.0344 0.0085 0.0253 0.0600 0.0002 0.0361 0.0487 0.0416 0.0141 0.0333 0.0083 0.0298 0.0833 0 0.0435 0.0474 0.0448 het 4096.56 243 1 183532580 . G T 4096.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.885;DP=243;DS;Dels=0.00;FS=1.604;HRun=1;HaplotypeScore=3.5984;MQ=59.19;MQ0=0;MQRankSum=3.305;QD=16.86;ReadPosRankSum=1.382;VQSLOD=3.5579;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,125:243:99:3461,0,3286 1 183542323 183542323 C T exonic NCF2 synonymous SNV NCF2:NM_001190794:exon4:c.G471A:p.A157A,NCF2:NM_000433:exon5:c.G606A:p.A202A,NCF2:NM_001127651:exon6:c.G606A:p.A202A 0.018 . 0.025 . 0.06 0.014 0.0341 0.0086 0.0238 0.0001 0.0376 0.0489 0.0485 0.0133 0.037 0.011 0.05 0.011 0.041 rs17849501 . . Benign|Likely benign not_specified|Chronic_granulomatous_disease RCV000178768.2|RCV000274236.1 MedGen|MedGen:Orphanet CN169374|C0018203:ORPHA379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0344 0.0085 0.0254 0.06 0 0.0362 0.0486 0.0421 0.0142 0.0333 0.0081 0.0298 0.0861 0 0.0438 0.0475 0.0448 het 3205.90 249 1 183542323 . C T 3205.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.532;DP=249;DS;Dels=0.00;FS=3.122;HRun=1;HaplotypeScore=2.5130;MQ=59.58;MQ0=0;MQRankSum=-0.311;QD=12.88;ReadPosRankSum=1.414;VQSLOD=5.8793;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:3236,0,3506 1 183542387 183542387 T C exonic NCF2 nonsynonymous SNV NCF2:NM_001190794:exon4:c.A407G:p.K136R,NCF2:NM_000433:exon5:c.A542G:p.K181R,NCF2:NM_001127651:exon6:c.A542G:p.K181R 0.49 0.33 0.6 0.62 0.47 0.53 0.4895 0.3626 0.6573 0.6286 0.4749 0.4582 0.4758 0.5122 0.43 0.36 0.47 0.58 0.44 rs2274064 COSM3750690 1(pancreas);2(thyroid);1(large_intestine) Benign|Benign not_specified|Chronic_granulomatous_disease RCV000243467.1|RCV000388595.1 MedGen|MedGen:Orphanet CN169374|C0018203:ORPHA379 . . . . . . 0.909 0.024 T 0.0 0.026 B 0.001 0.040 B 0.075 0.212 N 1.000 0.588 P 0 0.065 N -0.17 0.656 T -0.02 0.098 N 0.01 0.001 -0.933 0.438 T 0.000 0.000 T . . . 0.553 0.147 7.827 0.693 0.087 0.460 0.274 N c -1.006 -0.786 0.964 0.287 0.672 0.522 0 1.27 0.205 0.615 0.238 -0.374 0.066 0.995 0.385 0.983 0.502 9.926 0.405 Tetratricopeptide-like helical domain ENSG00000116698.16|ENSG00000116698.16|ENSG00000116698.16|ENSG00000116698.16|ENSG00000232860.3|ENSG00000116698.16|ENSG00000116698.16|ENSG00000116698.16 Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.4988 0.3594 0.6463 0.3900 0.6233 0.4851 0.4657 0.4710 0.5068 0.4535 0.3690 0.6005 0.4238 0.6236 0.4825 0.4683 0.4775 hom 7634.08 229 1 183542387 . T C 7634.08 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=229;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.8811;MQ=59.10;MQ0=0;MQRankSum=1.581;QD=33.34;ReadPosRankSum=0.945;VQSLOD=5.9727;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,228:229:99:7633,590,0 1 183616926 183616926 T C exonic APOBEC4 nonsynonymous SNV APOBEC4:NM_203454:exon2:c.A991G:p.K331E 0.37 0.49 0.35 0.24 0.4 0.32 0.3679 0.4668 0.2980 0.2213 0.3673 0.3944 0.3789 0.3241 0.42 0.47 0.4 0.34 0.42 rs1174657 . . . . . . . . . . . . . 0.74 0.037 T 0.0 0.026 B 0.001 0.040 B 0.753 0.097 N 1 0.090 P 1.32 0.331 L 2.59 0.133 T -1.31 0.328 N 0.016 0.003 -0.922 0.453 T 0.000 0.000 T . . . -1.695 0.013 0.002 0.310 0.017 0.054 0.112 N c -1.651 -1.638 0.310 0.193 0.476 0.093 0 -0.467 0.115 0.037 0.136 -2.315 0.003 0.000 0.063 0.000 0.016 6.984 0.237 . ENSG00000162704.11|ENSG00000116701.10|ENSG00000270009.1|ENSG00000116701.10|ENSG00000162704.11|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11|ENSG00000162704.11|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood 0.3632 0.4749 0.3004 0.3667 0.2277 0.3605 0.3972 0.3776 0.3272 0.3930 0.4669 0.3517 0.3675 0.2230 0.3577 0.3805 0.3763 hom 7457.53 241 1 183616926 . T C 7457.53 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5089;MQ=59.37;MQ0=0;QD=30.94;VQSLOD=9.1292;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:7456,623,0 1 183617105 183617105 A G exonic APOBEC4 nonsynonymous SNV APOBEC4:NM_203454:exon2:c.T812C:p.F271S 0.37 0.49 0.35 0.24 0.4 0.32 0.3680 0.4671 0.2981 0.2213 0.3674 0.3944 0.3797 0.3239 0.42 0.47 0.4 0.34 0.42 rs1174658 COSM424777 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.762 0.035 T 0.0 0.026 B 0.0 0.013 B 0.035 0.247 N 1.000 0.182 P -2.175 0.001 N 2.91 0.100 T 3.06 0.001 N 0.033 0.013 -0.969 0.373 T 0.000 0.000 T . . . -0.079 0.086 1.891 0.534 0.048 0.000 0.003 N c -1.246 -1.116 0.977 0.297 0.372 0.050 0 4.55 0.553 1.709 0.373 0.138 0.222 0.113 0.228 0.012 0.117 8.190 0.303 . ENSG00000162704.11|ENSG00000116701.10|ENSG00000270009.1|ENSG00000116701.10|ENSG00000162704.11|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11|ENSG00000162704.11|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11|ENSG00000270009.1|ENSG00000162704.11 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood 0.3633 0.4749 0.3006 0.3667 0.2274 0.3606 0.3974 0.3776 0.3271 0.3939 0.4682 0.3520 0.3675 0.2228 0.3573 0.3817 0.3763 hom 4550.53 140 1 183617105 . A G 4550.53 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.958;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6567;MQ=58.99;MQ0=0;MQRankSum=2.397;QD=32.50;ReadPosRankSum=1.501;VQSLOD=8.5667;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,138:140:99:4494,314,0 1 183876182 183876182 C T exonic RGL1 synonymous SNV RGL1:NM_001297672:exon13:c.C1422T:p.D474D,RGL1:NM_001297670:exon14:c.C1503T:p.D501D,RGL1:NM_001297671:exon14:c.C1509T:p.D503D,RGL1:NM_001297669:exon15:c.C1503T:p.D501D,RGL1:NM_015149:exon15:c.C1614T:p.D538D 0.22 0.22 0.29 0.075 0.3 0.22 0.2844 0.2475 0.2913 0.0917 0.3873 0.3149 0.2926 0.2361 0.28 0.25 0.3 0.28 0.23 rs11591089 COSM146709;COSM3746692 1(stomach);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2751 0.2296 0.2769 0.3145 0.0824 0.3832 0.3000 0.2729 0.2239 0.2749 0.2351 0.2739 0.3013 0.0881 0.3879 0.2899 0.2969 het 536.80 45 1 183876182 . C T 536.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=-1.510;QD=11.93;ReadPosRankSum=-0.397;VQSLOD=6.3197;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:567,0,544 1 183909717 183909717 G A exonic COLGALT2 synonymous SNV COLGALT2:NM_001303420:exon11:c.C1602T:p.P534P,COLGALT2:NM_001303421:exon11:c.C1242T:p.P414P,COLGALT2:NM_015101:exon11:c.C1602T:p.P534P 0.17 0.073 0.24 0.18 0.2 0.22 0.1984 0.0928 0.3176 0.2205 0.1507 0.1863 0.1927 0.2384 0.16 0.094 0.19 0.17 0.22 rs2296713 COSM3750693;COSM3750692 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2026 0.0880 0.3086 0.2025 0.2094 0.1464 0.1883 0.2088 0.2316 0.1526 0.0927 0.2919 0.2185 0.1993 0.1445 0.1746 0.1612 het 4104.88 248 1 183909717 . G A 4104.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.795;DP=248;DS;Dels=0.00;FS=7.944;HRun=0;HaplotypeScore=2.5765;MQ=59.23;MQ0=0;MQRankSum=0.847;QD=16.55;ReadPosRankSum=-0.886;VQSLOD=4.5101;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,124:248:99:3484,0,2993 1 184663537 184663537 A C exonic EDEM3 nonsynonymous SNV EDEM3:NM_025191:exon20:c.T2459G:p.I820S,EDEM3:NM_001319960:exon21:c.T2507G:p.I836S 0.35 0.036 0.34 0.58 0.37 0.54 0.3911 0.0909 0.3459 0.5492 0.4219 0.3836 0.3962 0.5391 0.29 0.096 0.38 0.26 0.3 rs9425343 COSM3746696;COSM3746697 1(pancreas);1(liver);1(skin);1(large_intestine) . . . . . . . . . . . 0.716 0.329 T 0.001 0.067 B 0.002 0.063 B 0.905 0.074 N 1 0.090 P 0.55 0.145 N -0.65 0.730 T 0.28 0.048 N 0.148 0.175 -0.951 0.408 T 0.000 0.000 T . . . -0.705 0.045 0.070 0.820 0.135 0.217 0.213 N c -1.092 -1.043 0.011 0.122 0.707 0.730 0 1.12 0.196 0.307 0.189 0.191 0.249 0.004 0.165 0.001 0.043 6.32 0.203 . ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14|ENSG00000116406.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.3909 0.0800 0.3429 0.3627 0.5513 0.4306 0.3798 0.3758 0.5297 0.3020 0.0789 0.3470 0.3742 0.5534 0.4139 0.3688 0.3980 het 220.46 23 1 184663537 . A C 220.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.732;DP=23;Dels=0.00;FS=1.824;HRun=0;HaplotypeScore=0.9993;MQ=59.19;MQ0=0;MQRankSum=-0.724;QD=9.59;ReadPosRankSum=0.346;VQSLOD=6.4102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,9:23:99:250,0,401 1 184663581 184663581 T C exonic EDEM3 synonymous SNV EDEM3:NM_025191:exon20:c.A2415G:p.Q805Q,EDEM3:NM_001319960:exon21:c.A2463G:p.Q821Q 0.42 0.19 0.4 0.59 0.43 0.57 0.4555 0.2442 0.4089 0.5675 0.4422 0.4500 0.4719 0.5821 0.38 0.24 0.44 0.34 0.42 rs9425634 COSM3746698;COSM3746699 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4472 0.2306 0.4048 0.4471 0.5661 0.4455 0.4400 0.4472 0.5586 0.3798 0.2266 0.4159 0.4868 0.5652 0.4307 0.4283 0.4561 het 193.45 26 1 184663581 . T C 193.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.611;DP=26;Dels=0.00;FS=3.674;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=-0.593;QD=7.44;ReadPosRankSum=0.269;VQSLOD=5.1393;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,9:26:99:223,0,421 1 184675814 184675814 G A exonic EDEM3 synonymous SNV EDEM3:NM_001319960:exon18:c.C2166T:p.N722N,EDEM3:NM_025191:exon18:c.C2166T:p.N722N 0.35 0.026 0.34 0.58 0.37 0.54 0.3867 0.0799 0.3433 0.5471 0.4233 0.3803 0.3985 0.5368 0.28 0.089 0.38 0.26 0.3 rs1062994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3907 0.0723 0.3426 0.3626 0.5513 0.4348 0.3799 0.3768 0.5296 0.3001 0.0725 0.3484 0.3742 0.5513 0.4172 0.3681 0.3945 het 882.09 70 1 184675814 . G A 882.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.349;DP=70;Dels=0.00;FS=3.166;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;MQRankSum=0.147;QD=12.60;ReadPosRankSum=-1.397;VQSLOD=5.4182;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,38:70:99:912,0,855 1 184677464 184677464 G A exonic EDEM3 synonymous SNV EDEM3:NM_001319960:exon17:c.C1860T:p.I620I,EDEM3:NM_025191:exon17:c.C1860T:p.I620I 0.65 0.85 0.51 0.7 0.48 0.61 0.5353 0.8040 0.4693 0.6815 0.5036 0.4703 0.5442 0.6099 0.58 0.79 0.48 0.59 0.48 rs3736757 COSM3746701;COSM3746700 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . Obesity-related traits . .03 23251661 rs3736757 6E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5243 0.8097 0.4613 0.4598 0.6845 0.5107 0.4677 0.5097 0.6008 0.5747 0.7989 0.4916 0.5 0.7132 0.4908 0.4581 0.5205 het 654.67 60 1 184677464 . G A 654.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.036;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=58.52;MQ0=0;MQRankSum=-0.446;QD=10.91;ReadPosRankSum=-0.684;VQSLOD=5.9663;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:685,0,788 1 184801065 184801065 T C exonic FAM129A synonymous SNV FAM129A:NM_052966:exon6:c.A633G:p.Q211Q 0.28 0.38 0.24 0.16 0.34 0.26 0.2969 0.3712 0.1719 0.1674 0.2954 0.3244 0.2974 0.2949 0.35 0.37 0.34 0.34 0.37 rs487675 COSM1337073 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2909 0.3733 0.1767 0.3079 0.1616 0.2827 0.3325 0.2958 0.2958 0.3166 0.3684 0.2153 0.2980 0.1695 0.2696 0.3202 0.3031 het 936.67 85 1 184801065 . T C 936.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.249;DP=85;Dels=0.00;FS=1.799;HRun=1;HaplotypeScore=1.8410;MQ=58.29;MQ0=0;MQRankSum=0.731;QD=11.02;ReadPosRankSum=1.573;VQSLOD=5.6076;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,37:85:99:967,0,1233 1 185984517 185984517 T C exonic HMCN1 synonymous SNV HMCN1:NM_031935:exon31:c.T4857C:p.H1619H 0.34 0.033 0.43 0.42 0.48 0.48 0.4271 0.0950 0.4796 0.3851 0.4932 0.4668 0.4035 0.4342 0.35 0.1 0.47 0.26 0.51 rs6665753 COSM5008411 1(large_intestine) Likely benign Macular_degeneration RCV000308140.1 Human_Phenotype_Ontology:MedGen HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4319 0.0828 0.4603 0.3596 0.3892 0.4984 0.4710 0.4364 0.4327 0.3688 0.0916 0.4630 0.3344 0.3795 0.5100 0.4860 0.4582 hom 1381.59 45 1 185984517 . T C 1381.59 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=30.70;VQSLOD=9.3192;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1415,117,0 1 186273994 186273994 C T exonic PRG4 nonsynonymous SNV PRG4:NM_001127708:exon5:c.C415T:p.R139W,PRG4:NM_005807:exon6:c.C538T:p.R180W 0.23 0.15 0.41 0.13 0.33 0.22 0.3050 0.1778 0.4380 0.1392 0.2955 0.3424 0.3029 0.2284 0.3 0.19 0.35 0.12 0.26 rs2273779 COSM3997116 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.035 0.721 D 0.949 0.550 P 0.329 0.467 B 0.033 0.249 U 0.973 0.588 P 1.87 0.498 L 0.74 0.505 T -6.02 0.897 D 0.103 0.442 -0.947 0.415 T 0.000 0.000 T . . . 5.123 0.691 25.4 0.999 0.961 0.641 0.320 D c 0.166 0.226 0.005 0.108 0.487 0.133 0 4.26 0.497 1.582 0.359 0.852 0.362 1.000 0.715 1.000 0.888 9.740 0.394 . ENSG00000233196.2|ENSG00000157181.10 Artery_Coronary|Cells_Transformed_fibroblasts 0.3115 0.1735 0.4298 0.3468 0.1433 0.2866 0.3444 0.3261 0.2333 0.2835 0.1910 0.3962 0.3477 0.1632 0.2811 0.3430 0.2878 het 872 69 1 186273994 . C T 872 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.104;DP=69;Dels=0.00;FS=2.118;HRun=2;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=0.675;QD=12.64;ReadPosRankSum=-0.295;VQSLOD=6.7129;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,36:69:99:902,0,922 1 186277989 186277989 A G exonic PRG4 synonymous SNV PRG4:NM_001127710:exon4:c.A2736G:p.P912P,PRG4:NM_001127709:exon5:c.A2859G:p.P953P,PRG4:NM_001127708:exon6:c.A3015G:p.P1005P,PRG4:NM_001303232:exon6:c.A3009G:p.P1003P,PRG4:NM_005807:exon7:c.A3138G:p.P1046P 0.22 0.11 0.4 0.12 0.33 0.22 0.3016 0.1428 0.4371 0.1358 0.2948 0.3429 0.3020 0.2288 0.28 0.15 0.35 0.13 0.33 rs3737940 COSM3997118 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3096 0.1377 0.4289 0.3471 0.1397 0.2867 0.3450 0.3249 0.2335 0.2706 0.1470 0.3933 0.3477 0.1584 0.2804 0.3427 0.2882 het 2459.76 198 1 186277989 . A G 2459.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.184;DP=198;Dels=0.00;FS=2.033;HRun=0;HaplotypeScore=12.2810;MQ=59.07;MQ0=0;MQRankSum=0.079;QD=12.42;ReadPosRankSum=0.089;VQSLOD=3.7157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,97:198:99:2490,0,2798 1 186321242 186321242 C T exonic TPR nonsynonymous SNV TPR:NM_003292:exon19:c.G2335A:p.V779I 0.087 0.023 0.12 0.071 0.18 0.064 0.1333 0.0440 0.0718 0.0725 0.1618 0.1760 0.1374 0.0772 0.14 0.052 0.18 0.043 0.14 rs61744267 COSM328079 1(stomach);1(pancreas);3(prostate) . . . . . . . . . . . 0.148 0.248 T 0.985 0.592 D 0.437 0.438 B 0.001 0.410 D 0.000 0.501 P 1.91 0.513 L 1.83 0.248 T -0.69 0.197 N 0.111 0.120 -1.045 0.158 T 0.000 0.000 T . . . 3.412 0.468 23.0 0.998 0.923 0.994 0.958 D c 0.438 0.497 1.000 0.747 0.732 0.924 0 5.75 0.904 5.214 0.648 0.935 0.490 1.000 0.715 0.963 0.446 19.544 0.953 . ENSG00000157181.10 Cells_Transformed_fibroblasts 0.1367 0.0410 0.0908 0.1182 0.0771 0.1606 0.1815 0.1430 0.0815 0.1360 0.0433 0.1010 0.1367 0.0916 0.1618 0.1903 0.1417 het 766.79 69 1 186321242 . C T 766.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.538;DP=69;Dels=0.00;FS=3.075;HRun=0;HaplotypeScore=3.5581;MQ=58.44;MQ0=0;MQRankSum=-1.241;QD=11.11;ReadPosRankSum=-1.338;VQSLOD=3.9030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:797,0,1161 1 186648197 186648197 C G exonic PTGS2 synonymous SNV PTGS2:NM_000963:exon3:c.G306C:p.V102V 0.076 0.013 0.11 0.044 0.18 0.061 0.1207 0.0326 0.0667 0.0387 0.1779 0.1586 0.1392 0.0796 0.11 0.038 0.15 0.054 0.19 rs5277 COSM146712 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1203 0.0301 0.0784 0.1033 0.0391 0.1711 0.1592 0.1311 0.0822 0.1204 0.0299 0.0871 0.1291 0.0370 0.1670 0.1713 0.1459 het 389.91 44 1 186648197 . C G 389.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.981;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=1.847;QD=8.86;ReadPosRankSum=-0.675;VQSLOD=5.6589;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,16:44:99:420,0,784 1 186946912 186946912 G A exonic PLA2G4A nonsynonymous SNV PLA2G4A:NM_001311193:exon14:c.G1772A:p.R591K,PLA2G4A:NM_024420:exon16:c.G1952A:p.R651K 0.99 1. 0.98 1. 0.97 0.98 0.9804 0.9956 0.9759 0.9997 0.9808 0.9764 0.9813 0.9796 0.99 1. 0.98 0.98 1. rs2307198 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.978 0.257 P -2.66 0.000 N 2.94 0.098 T 1.79 0.005 N 0.026 0.222 -0.965 0.382 T 0.000 0.000 T . . . 1.772 0.274 14.82 0.810 0.130 0.195 0.205 N c -0.725 -0.351 1.000 0.747 0.628 0.401 0 5.98 0.971 7.038 0.761 0.244 0.267 1.000 0.715 0.995 0.604 11.512 0.496 Acyl transferase/acyl hydrolase/lysophospholipase|Lysophospholipase\x2c catalytic domain . . 0.9800 0.9959 0.9754 0.9924 0.9997 0.9808 0.9748 0.9808 0.9799 0.9819 0.9940 0.9761 0.9934 0.9994 0.9848 0.9734 0.9674 hom 3756.78 118 1 186946912 . G A 3756.78 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9399;MQ=58.57;MQ0=0;QD=31.84;VQSLOD=9.6053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3756,286,0 1 196227526 196227526 A G exonic KCNT2 synonymous SNV KCNT2:NM_001287819:exon25:c.T2937C:p.D979D,KCNT2:NM_001287820:exon25:c.T2808C:p.D936D,KCNT2:NM_198503:exon26:c.T3009C:p.D1003D 0.99 0.96 0.99 1. 1. 1. 0.9961 0.9583 0.9977 1 1 0.9999 0.9967 1 0.99 0.96 1. 0.99 0.99 rs977157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9969 0.9562 0.9980 1 1 1 0.9999 0.9982 0.9999 0.9863 0.9520 0.9964 1 1 1 0.9999 0.9990 hom 4458.60 141 1 196227526 . A G 4458.60 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7502;MQ=58.81;MQ0=0;QD=31.62;VQSLOD=8.9926;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4458,346,0 1 196654324 196654324 A C exonic CFH synonymous SNV CFH:NM_000186:exon7:c.A921C:p.A307A,CFH:NM_001014975:exon7:c.A921C:p.A307A 0.71 0.57 0.76 0.95 0.64 0.71 0.6666 0.5734 0.8434 0.9510 0.5557 0.6167 0.6608 0.7003 0.61 0.59 0.62 0.66 0.57 rs1061147 COSM3750723 1(large_intestine) Benign|Benign|Benign|Benign Macular_degeneration|Basal_laminar_drusen|Mesangiocapillary_glomerulonephritis\x2c_type_II|Atypical_hemolytic_uremic_syndrome RCV000267123.1|RCV000305955.1|RCV000354801.1|RCV000358116.1 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet HP:0000608:C0024437|C0730295:126700:312926005|C0268743:ORPHA93571:59479006|C2931788:ORPHA2134 Age-related macular degeneration 0.71 . 23326517 rs1061147 7E-32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6753 0.5721 0.8324 0.6646 0.9535 0.5638 0.6171 0.6541 0.6983 0.6188 0.5773 0.7830 0.6689 0.9559 0.5500 0.6138 0.6071 het 1377.89 122 1 196654324 . A C 1377.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.139;DP=122;Dels=0.00;FS=3.708;HRun=1;HaplotypeScore=2.8311;MQ=59.31;MQ0=0;MQRankSum=1.060;QD=11.29;ReadPosRankSum=0.689;VQSLOD=6.1632;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,49:122:99:1408,0,2032 1 196659237 196659237 C T exonic CFH nonsynonymous SNV CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y 0.73 0.64 0.77 0.95 0.64 0.71 0.6721 0.6307 0.8458 0.9506 0.5582 0.6169 0.6589 0.7008 0.62 0.64 0.62 0.67 0.52 rs1061170 COSM424915 1(prostate);1(large_intestine) other|Pathogenic\x2cBenign|Benign|Benign|Benign Age-related_macular_degeneration_4|Basal_laminar_drusen\x2cBasal_laminar_drusen|Macular_degeneration|Mesangiocapillary_glomerulonephritis\x2c_type_II|Atypical_hemolytic_uremic_syndrome RCV000018015.5|RCV000018016.31\x2cRCV000296616.1|RCV000327040.1|RCV000349294.1|RCV000388493.1 MedGen:OMIM|MedGen:OMIM:SNOMED_CT\x2cMedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet C1853147:610698|C0730295:126700:312926005\x2cC0730295:126700:312926005|HP:0000608:C0024437|C0268743:ORPHA93571:59479006|C2931788:ORPHA2134 Age-related macular degeneration 0.41 . 21665990 rs1061170 1E-261 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . -0.03 0.631 T 0.01 0.069 N 0.031 0.021 -1.007 0.279 T 0.000 0.000 T . . . -3.918 0.000 0.001 0.221 0.009 0.001 0.006 N c -2.769 -2.879 0.999 0.379 0.707 0.730 0 -9.09 0.006 -8.331 0.000 -5.376 0.000 0.000 0.063 0.000 0.016 2.071 0.034 Sushi/SCR/CCP domain ENSG00000244414.2|ENSG00000000971.11 Liver|Nerve_Tibial 0.6787 0.6262 0.8348 0.6648 0.9535 0.5636 0.6163 0.6567 0.6983 0.6336 0.6282 0.7885 0.6689 0.9557 0.55 0.6144 0.6104 het 1225.96 81 1 196659237 . C T 1225.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.543;DP=81;Dels=0.00;FS=0.944;HRun=1;HaplotypeScore=2.9906;MQ=57.75;MQ0=0;MQRankSum=1.105;QD=15.14;ReadPosRankSum=1.640;VQSLOD=3.7839;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,46:81:99:1256,0,915 1 196682947 196682947 G A exonic CFH synonymous SNV CFH:NM_000186:exon10:c.G1419A:p.A473A 0.48 0.47 0.54 0.42 0.42 0.56 0.4431 0.4594 0.4518 0.4359 0.3974 0.4182 0.4569 0.5481 0.43 0.47 0.4 0.48 0.43 rs2274700 COSM3750724 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign|Benign\x2cother Macular_degeneration|Mesangiocapillary_glomerulonephritis\x2c_type_II|Atypical_hemolytic_uremic_syndrome|Basal_laminar_drusen\x2cAge-related_macular_degeneration_4 RCV000281469.1|RCV000338900.1|RCV000387444.1|RCV000404891.1\x2cRCV000018023.3 Human_Phenotype_Ontology:MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet|MedGen:OMIM:SNOMED_CT\x2cMedGen:OMIM HP:0000608:C0024437|C0268743:ORPHA93571:59479006|C2931788:ORPHA2134|C0730295:126700:312926005\x2cC1853147:610698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4439 0.4606 0.4600 0.5193 0.4310 0.4037 0.4126 0.4254 0.5462 0.4239 0.4696 0.4412 0.51 0.4261 0.3805 0.4042 0.4274 het 1207.49 110 1 196682947 . G A 1207.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.622;DP=110;Dels=0.00;FS=0.722;HRun=3;HaplotypeScore=1.9152;MQ=58.73;MQ0=0;MQRankSum=-0.132;QD=10.98;ReadPosRankSum=0.547;VQSLOD=6.1351;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,49:110:99:1237,0,1666 1 196973906 196973906 T C exonic CFHR5 synonymous SNV CFHR5:NM_030787:exon9:c.T1446C:p.Y482Y . . . . . . 8.24e-06 0 0 0 0 1.499e-05 0 0 . . . . . rs776756790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.127e-06 0 0 0 0 0 1.792e-05 0 0 . . . . . . . . het 2084.43 144 1 196973906 . T C 2084.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.221;DP=144;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=2.5606;MQ=59.84;MQ0=0;MQRankSum=0.913;QD=14.48;ReadPosRankSum=-0.386;VQSLOD=4.6784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,74:144:99:2114,0,1739 1 197009798 197009798 A G exonic F13B synonymous SNV F13B:NM_001994:exon11:c.T1806C:p.N602N 0.53 0.19 0.65 0.82 0.5 0.61 0.5270 0.2372 0.7499 0.8177 0.5593 0.4749 0.5610 0.5941 0.39 0.23 0.47 0.43 0.32 rs5998 . . Benign|Benign not_specified|Factor_xiii\x2c_b_subunit\x2c_deficiency_of RCV000248564.1|RCV000307541.1 MedGen|MedGen:OMIM CN169374|C2750481:613235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5399 0.2271 0.7222 0.4866 0.8181 0.5656 0.4715 0.5257 0.5890 0.4389 0.2380 0.6755 0.4967 0.8118 0.5515 0.4705 0.5093 het 504.57 38 1 197009798 . A G 504.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.850;DP=38;Dels=0.00;FS=3.144;HRun=0;HaplotypeScore=2.8073;MQ=58.85;MQ0=0;MQRankSum=0.512;QD=13.28;ReadPosRankSum=1.272;VQSLOD=6.0507;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,18:38:99:535,0,513 1 197030201 197030201 T C exonic F13B synonymous SNV F13B:NM_001994:exon4:c.A456G:p.T152T 0.78 0.38 0.88 1. 0.91 0.9 0.8805 0.4630 0.9438 0.9996 0.9355 0.9064 0.8991 0.9018 0.76 0.46 0.91 0.58 0.66 rs5997 . . Benign|Benign not_specified|Factor_xiii\x2c_b_subunit\x2c_deficiency_of RCV000245968.1|RCV000341515.1 MedGen|MedGen:OMIM CN169374|C2750481:613235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8904 0.4476 0.9383 0.8972 0.9997 0.9296 0.9074 0.8919 0.9016 0.7910 0.4533 0.9091 0.9238 1 0.9414 0.9127 0.9194 het 470.55 34 1 197030201 . T C 470.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=59.32;MQ0=0;MQRankSum=0.262;QD=13.84;ReadPosRankSum=-0.997;VQSLOD=6.5605;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,20:34:99:501,0,364 1 197031021 197031021 C T exonic F13B nonsynonymous SNV F13B:NM_001994:exon3:c.G344A:p.R115H 0.76 0.32 0.88 0.98 0.91 0.9 0.8720 0.3995 0.9412 0.9837 0.9353 0.9058 0.8947 0.9 0.74 0.41 0.91 0.7 0.82 rs6003 . . other|Benign|Benign Venous_thrombosis\x2c_susceptibility_to|not_specified|Factor_xiii\x2c_b_subunit\x2c_deficiency_of RCV000017984.2|RCV000253350.1|RCV000301691.1 MedGen|MedGen|MedGen:OMIM CN068878|CN169374|C2750481:613235 . . . . . . 0.38 0.112 T 0.0 0.026 B 0.002 0.063 B 0.781 0.095 N 1 0.090 P 0.79 0.196 N -0.18 0.658 T -0.51 0.160 N 0.138 0.160 -1.024 0.224 T 0.000 0.000 T . . . 0.292 0.122 5.616 0.312 0.017 0.016 0.051 N c -1.379 -1.364 0.000 0.042 0.487 0.133 0 -0.818 0.102 -0.438 0.069 -1.615 0.009 0.001 0.137 0.000 0.016 4.868 0.129 Sushi/SCR/CCP domain ENSG00000177888.7|ENSG00000116785.9|ENSG00000116785.9 Adipose_Subcutaneous|Lung|Thyroid 0.8830 0.3881 0.9328 0.8945 0.9817 0.9292 0.9063 0.8888 0.8979 0.7756 0.4022 0.9055 0.9238 0.9801 0.9407 0.9129 0.9112 het 1143.95 72 1 197031021 . C T 1143.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.564;DP=72;Dels=0.00;FS=1.980;HRun=0;HaplotypeScore=0.9332;MQ=58.96;MQ0=0;MQRankSum=-0.451;QD=15.89;ReadPosRankSum=0.965;VQSLOD=6.1165;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,42:72:99:1174,0,718 1 197070815 197070815 T C exonic ASPM synonymous SNV ASPM:NM_018136:exon18:c.A7566G:p.L2522L 0.82 0.5 0.89 1. 0.91 0.9 0.8876 0.5494 0.9477 0.9995 0.9352 0.9068 0.9015 0.9012 0.79 0.55 0.91 0.75 0.84 rs1412640 . . Benign|other|Benign Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020792.1|RCV000145187.6|RCV000317009.1 MedGen:OMIM|MedGen|MedGen C1837501:608716|CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8957 0.5411 0.9398 0.9072 0.9997 0.9289 0.9066 0.8961 0.8990 0.8174 0.5454 0.9163 0.9272 1 0.9410 0.9131 0.9254 het 905.40 56 1 197070815 . T C 905.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.243;DP=56;Dels=0.00;FS=5.552;HRun=0;HaplotypeScore=0.9159;MQ=57.96;MQ0=0;MQRankSum=0.126;QD=16.17;ReadPosRankSum=0.042;VQSLOD=4.6451;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,34:56:99:935,0,509 1 197070901 197070901 A G exonic ASPM nonsynonymous SNV ASPM:NM_018136:exon18:c.T7480C:p.Y2494H 1. 1. 0.99 1. 0.99 1. 0.9956 0.9989 0.9990 1 0.9986 0.9930 0.9989 0.9978 1. 1. 0.99 1. 0.99 rs964201 . . Benign|Benign|Benign Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020789.1|RCV000145183.6|RCV000332016.1 MedGen:OMIM|MedGen|MedGen C1837501:608716|CN169374|CN239428 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.01 0.139 B 0.000 0.457 N 1.000 0.810 P -2.065 0.002 N -0.74 0.732 T 2.51 0.002 N 0.121 0.135 -0.934 0.435 T 0.000 0.000 T . . . 0.626 0.154 8.336 0.133 0.003 0.086 0.143 N c -0.901 -0.624 1.000 0.747 0.707 0.730 0 4.83 0.617 3.069 0.495 0.074 0.181 1.000 0.715 0.900 0.381 13.631 0.615 IQ motif\x2c EF-hand binding site|P-loop containing nucleoside triphosphate hydrolase . . 0.9963 0.9989 0.9990 0.9999 1 0.9982 0.9935 0.9969 0.9974 0.9962 0.9994 0.9988 1 1 1 0.9927 0.9980 hom 2015.80 65 1 197070901 . A G 2015.80 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;QD=31.01;VQSLOD=8.7997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2049,156,0 1 197091537 197091537 A T exonic ASPM synonymous SNV ASPM:NM_001206846:exon14:c.T3579A:p.S1193S,ASPM:NM_018136:exon14:c.T3579A:p.S1193S 0.78 0.38 0.88 1. 0.91 0.9 0.8779 0.4504 0.9430 0.9997 0.9352 0.9058 0.8998 0.9008 0.75 0.46 0.91 0.72 0.84 rs4915337 . . Benign|other|Benign Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020768.1|RCV000145113.2|RCV000304377.1 MedGen:OMIM|MedGen|MedGen C1837501:608716|CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8880 0.4414 0.9348 0.8937 0.9998 0.9290 0.9062 0.8914 0.8987 0.7906 0.4511 0.9079 0.92 0.9988 0.9408 0.9126 0.9194 het 641.88 46 1 197091537 . A T 641.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.183;DP=46;Dels=0.00;FS=4.441;HRun=0;HaplotypeScore=0.8667;MQ=57.75;MQ0=0;MQRankSum=1.407;QD=13.95;ReadPosRankSum=0.476;VQSLOD=4.0487;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,26:46:99:672,0,535 1 197094030 197094030 C T exonic ASPM synonymous SNV ASPM:NM_001206846:exon12:c.G3138A:p.R1046R,ASPM:NM_018136:exon12:c.G3138A:p.R1046R 0.22 0.13 0.21 0.15 0.33 0.29 0.2801 0.1582 0.2487 0.1120 0.3069 0.3151 0.3249 0.3118 0.26 0.16 0.32 0.24 0.16 rs6676084 COSM3750735 1(large_intestine) Benign|Benign|Likely benign Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020763.1|RCV000145109.2|RCV000259745.1 MedGen:OMIM|MedGen|MedGen C1837501:608716|CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2802 0.1555 0.2502 0.3060 0.1103 0.3143 0.3144 0.3072 0.3086 0.2524 0.1620 0.2644 0.3278 0.1009 0.3053 0.3046 0.2869 het 1562.22 130 1 197094030 . C T 1562.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.300;DP=130;Dels=0.00;FS=0.664;HRun=0;HaplotypeScore=1.9931;MQ=58.66;MQ0=0;MQRankSum=0.144;QD=12.02;ReadPosRankSum=0.648;VQSLOD=6.1169;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,63:130:99:1592,0,1626 1 197112533 197112533 G A exonic ASPM synonymous SNV ASPM:NM_001206846:exon3:c.C849T:p.S283S,ASPM:NM_018136:exon3:c.C849T:p.S283S 0.76 0.29 0.87 0.98 0.91 0.9 0.8698 0.3743 0.9388 0.9834 0.9349 0.9054 0.8916 0.9006 0.73 0.39 0.91 0.67 0.83 rs6677082 . . other|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000081938.7|RCV000284938.1 MedGen|MedGen CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8810 0.3628 0.9307 0.8939 0.9815 0.9290 0.9058 0.8858 0.8984 0.7690 0.3794 0.9043 0.9205 0.9808 0.9408 0.9125 0.9129 het 1556.44 132 1 197112533 . G A 1556.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.752;DP=132;Dels=0.00;FS=1.392;HRun=0;HaplotypeScore=0.9332;MQ=59.22;MQ0=0;MQRankSum=-1.039;QD=11.79;ReadPosRankSum=-1.007;VQSLOD=6.2640;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,63:132:99:1586,0,1788 1 197390368 197390368 A G exonic CRB1 synonymous SNV CRB1:NM_001193640:exon4:c.A1074G:p.L358L,CRB1:NM_001257966:exon6:c.A1410G:p.L470L,CRB1:NM_201253:exon6:c.A1410G:p.L470L,CRB1:NM_001257965:exon8:c.A1203G:p.L401L 0.92 0.71 0.98 1. 1. 1. 0.9781 0.7639 0.9878 0.9995 1 0.9991 0.9967 0.9999 0.92 0.77 1. 0.9 0.99 rs3902057 . . Benign not_specified RCV000153108.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9823 0.7559 0.9875 0.9998 0.9998 1 0.9990 0.9892 0.9996 0.9339 0.7683 0.9869 1 1 1 0.9995 0.9919 hom 4092 126 1 197390368 . A G 4092 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=32.48;VQSLOD=9.5382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4092,316,0 1 197480927 197480927 C T exonic DENND1B synonymous SNV DENND1B:NM_001195215:exon22:c.G1746A:p.Q582Q 0.23 0.14 0.26 0.22 0.31 0.26 0.2739 0.1562 0.1840 0.2106 0.2220 0.3239 0.2837 0.2618 0.28 0.17 0.34 0.25 0.27 rs12142127 COSM4419696;COSM4419695 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2729 0.1535 0.1928 0.3011 0.2131 0.2164 0.3337 0.2979 0.2604 0.2583 0.1624 0.2038 0.3333 0.2108 0.2391 0.3231 0.2906 het 503.44 52 1 197480927 . C T 503.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=52;Dels=0.00;FS=1.111;HRun=1;HaplotypeScore=1.9330;MQ=59.11;MQ0=0;MQRankSum=-0.410;QD=9.68;ReadPosRankSum=1.361;VQSLOD=5.9498;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,21:52:99:533,0,857 1 197896728 197896728 T C exonic LHX9 synonymous SNV LHX9:NM_020204:exon4:c.T741C:p.N247N,LHX9:NM_001014434:exon5:c.T714C:p.N238N 0.27 0.2 0.35 0.41 0.19 0.25 0.2363 0.1888 0.3681 0.4439 0.2756 0.1916 0.2192 0.2311 0.19 0.19 0.19 0.14 0.09 rs12046958 COSM3997126;COSM146721 1(breast);1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2454 0.1946 0.3571 0.1861 0.4427 0.2722 0.1926 0.2299 0.2322 0.2299 0.1979 0.3520 0.1523 0.4653 0.2680 0.2093 0.2265 het 4223.41 250 1 197896728 . T C 4223.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.390;DP=250;DS;Dels=0.00;FS=7.896;HRun=0;HaplotypeScore=6.4147;MQ=59.27;MQ0=0;MQRankSum=0.031;QD=16.89;ReadPosRankSum=-0.821;VQSLOD=4.1754;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,129:250:99:3512,0,3500 1 200017586 200017586 C G exonic NR5A2 synonymous SNV NR5A2:NM_001276464:exon4:c.C534G:p.P178P,NR5A2:NM_003822:exon4:c.C612G:p.P204P,NR5A2:NM_205860:exon5:c.C750G:p.P250P 0.23 0.52 0.17 0.04 0.18 0.13 0.1886 0.4946 0.1209 0.0379 0.1996 0.1848 0.1773 0.1339 0.28 0.48 0.18 0.4 0.16 rs2821368 COSM3750738;COSM4417670 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1827 0.5044 0.1338 0.2885 0.0365 0.1971 0.1767 0.1927 0.1333 0.2576 0.4939 0.1400 0.2815 0.0389 0.2023 0.1672 0.1898 het 2127.92 188 1 200017586 . C G 2127.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.592;DP=188;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7215;MQ=59.23;MQ0=0;MQRankSum=0.001;QD=11.32;ReadPosRankSum=-1.709;VQSLOD=3.2023;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,82:188:99:2158,0,3077 1 200522566 200522566 G C exonic KIF14 nonsynonymous SNV KIF14:NM_001305792:exon28:c.C3424G:p.P1142A,KIF14:NM_014875:exon30:c.C4897G:p.P1633A 0.22 0.042 0.2 0.23 0.39 0.28 0.3203 0.0887 0.1753 0.2305 0.2640 0.3999 0.3223 0.3156 0.31 0.1 0.41 0.23 0.25 rs12120084 COSM3750739 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.091 0.318 T 0.307 0.310 B 0.079 0.272 B 0.577 0.112 N 1 0.090 P 1.195 0.303 L -0.77 0.735 T -2.06 0.471 N 0.044 0.024 -1.020 0.238 T 0.000 0.000 T . . . -0.976 0.033 0.018 0.823 0.137 0.104 0.158 N c -0.907 -0.972 0.000 0.069 0.706 0.609 0 0.605 0.167 -0.045 0.119 0.108 0.203 0.005 0.169 0.017 0.128 7.343 0.257 . ENSG00000260088.1|ENSG00000260088.1|ENSG00000260088.1|ENSG00000260088.1|ENSG00000260088.1|ENSG00000118200.10|ENSG00000260088.1|ENSG00000260088.1|ENSG00000260088.1|ENSG00000260088.1 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3185 0.0847 0.1886 0.4275 0.2319 0.2609 0.4049 0.3416 0.3140 0.2696 0.0894 0.2093 0.4272 0.2261 0.2695 0.3773 0.3020 hom 4734.73 163 1 200522566 . G C 4734.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.920;DP=163;Dels=0.00;FS=4.122;HRun=0;HaplotypeScore=6.9557;MQ=58.94;MQ0=0;MQRankSum=1.625;QD=29.05;ReadPosRankSum=1.283;VQSLOD=3.3733;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,161:163:99:4702,366,0 1 200534248 200534248 C T exonic KIF14 synonymous SNV KIF14:NM_001305792:exon23:c.G2547A:p.E849E,KIF14:NM_014875:exon25:c.G4020A:p.E1340E 0.56 0.41 0.55 0.69 0.58 0.64 0.5717 0.4187 0.4951 0.6811 0.5206 0.5836 0.6123 0.6349 0.54 0.43 0.59 0.53 0.48 rs7543730 COSM3746712 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5730 0.4154 0.5056 0.6579 0.6801 0.5190 0.5825 0.5913 0.6386 0.5250 0.4177 0.4868 0.6093 0.6865 0.5287 0.5686 0.5400 hom 5199.99 165 1 200534248 . C T 5199.99 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=31.52;VQSLOD=9.7207;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:5199,412,0 1 200558363 200558363 T C exonic KIF14 synonymous SNV KIF14:NM_001305792:exon16:c.A1623G:p.E541E,KIF14:NM_014875:exon18:c.A3096G:p.E1032E 0.77 0.9 0.67 0.69 0.75 0.75 0.7515 0.8819 0.5923 0.6804 0.7442 0.7675 0.7671 0.7556 0.81 0.88 0.77 0.79 0.59 rs6665951 COSM3746713 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7468 0.8865 0.6090 0.8320 0.6804 0.7535 0.7659 0.7664 0.7574 0.7926 0.8873 0.6100 0.8411 0.6856 0.7478 0.7711 0.7556 hom 4314.27 139 1 200558363 . T C 4314.27 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.57;MQ0=0;QD=31.04;VQSLOD=9.5849;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:139:99:4286,325,0 1 200618238 200618238 T C exonic DDX59 synonymous SNV DDX59:NM_001320182:exon3:c.A1089G:p.S363S,DDX59:NM_001349803:exon5:c.A1179G:p.S393S,DDX59:NM_001031725:exon6:c.A1431G:p.S477S,DDX59:NM_001320181:exon6:c.A1431G:p.S477S,DDX59:NM_001349799:exon6:c.A1431G:p.S477S,DDX59:NM_001349800:exon6:c.A1431G:p.S477S,DDX59:NM_001349801:exon6:c.A1431G:p.S477S,DDX59:NM_001349802:exon6:c.A1431G:p.S477S 0.96 0.91 0.97 1. 0.95 0.98 0.9654 0.9196 0.9777 1 0.9864 0.9605 0.9780 0.9778 0.95 0.92 0.96 0.9 0.97 rs6665604 COSM3746716;COSM3746714;COSM3746715 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9665 0.9213 0.9729 0.9593 0.9999 0.9881 0.9601 0.9660 0.9776 0.9587 0.9261 0.9702 0.9371 1 0.9911 0.9647 0.9715 hom 4914.37 162 1 200618238 . T C 4914.37 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=58.81;MQ0=0;QD=30.34;VQSLOD=9.0380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:162:99:4875,376,0 1 200956288 200956288 A G exonic KIF21B synonymous SNV KIF21B:NM_001252100:exon25:c.T3450C:p.A1150A,KIF21B:NM_001252102:exon25:c.T3450C:p.A1150A,KIF21B:NM_001252103:exon25:c.T3450C:p.A1150A,KIF21B:NM_017596:exon25:c.T3450C:p.A1150A 0.26 0.45 0.2 0.29 0.15 0.13 0.2030 0.4329 0.1785 0.2949 0.2299 0.1809 0.1759 0.1084 0.26 0.42 0.18 0.32 0.16 rs2275485 COSM4418799;COSM4418798 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2001 0.4368 0.1795 0.1793 0.2934 0.2332 0.1802 0.1953 0.1085 0.2726 0.4320 0.2005 0.14 0.2884 0.2260 0.2002 0.2065 het 1769.75 182 1 200956288 . A G 1769.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.499;DP=182;DS;Dels=0.00;FS=0.607;HRun=1;HaplotypeScore=9.0659;MQ=59.62;MQ0=0;MQRankSum=1.335;QD=9.72;ReadPosRankSum=-1.381;VQSLOD=3.6858;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,74:182:99:1800,0,3021 1 200959302 200959302 G A exonic KIF21B synonymous SNV KIF21B:NM_001252100:exon20:c.C2994T:p.D998D,KIF21B:NM_001252102:exon20:c.C2994T:p.D998D,KIF21B:NM_001252103:exon20:c.C2994T:p.D998D,KIF21B:NM_017596:exon20:c.C2994T:p.D998D 0.26 0.45 0.2 0.3 0.15 0.13 0.2033 0.4295 0.1783 0.3054 0.2300 0.1801 0.1748 0.1087 0.26 0.42 0.18 0.3 0.17 rs2297911 COSM3750743;COSM3997138 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2004 0.4367 0.1799 0.1731 0.3023 0.2334 0.1799 0.1945 0.1086 0.2731 0.4319 0.2010 0.1358 0.2996 0.2264 0.2000 0.2092 het 2126.81 161 1 200959302 . G A 2126.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.113;DP=161;Dels=0.00;FS=4.689;HRun=1;HaplotypeScore=6.8436;MQ=59.34;MQ0=0;MQRankSum=0.024;QD=13.21;ReadPosRankSum=0.635;VQSLOD=4.1028;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,79:161:99:2157,0,2112 1 201009182 201009182 A G exonic CACNA1S nonsynonymous SNV CACNA1S:NM_000069:exon44:c.T5399C:p.L1800S 0.23 0.61 0.1 0.11 0.11 0.061 0.1549 0.5567 0.0832 0.1262 0.1403 0.1312 0.1344 0.0698 0.27 0.54 0.13 0.33 0.14 rs12139527 COSM3997139 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility RCV000242685.2|RCV000311084.1|RCV000368150.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0238358:ORPHA681|C0024591:ORPHA423 . . . . . . 0.001 0.784 D 0.999 0.764 D 0.994 0.807 D . . . 0.128 0.356 P 2.085 0.579 M 0.56 0.546 T -1.75 0.414 N 0.11 0.118 -0.869 0.506 T 0.000 0.000 T . . . 5.977 0.821 27.7 0.999 0.942 0.966 0.698 D c 0.602 0.569 0.901 0.261 0.487 0.133 0 4.93 0.643 3.816 0.551 0.990 0.601 0.968 0.339 0.346 0.245 8.908 0.345 . ENSG00000234132.1|ENSG00000234132.1|ENSG00000229191.1|ENSG00000229191.1 Muscle_Skeletal|Testis|Testis|Whole_Blood 0.1461 0.5622 0.0874 0.1577 0.1259 0.1399 0.1298 0.1559 0.0723 0.2456 0.5464 0.0945 0.1325 0.1258 0.1297 0.1279 0.1449 het 1605.59 137 1 201009182 . A G 1605.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.984;DP=137;Dels=0.00;FS=1.727;HRun=0;HaplotypeScore=6.4870;MQ=59.56;MQ0=0;MQRankSum=-0.634;QD=11.72;ReadPosRankSum=-1.191;VQSLOD=4.4679;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,62:137:99:1636,0,2272 1 201047075 201047075 A G exonic CACNA1S synonymous SNV CACNA1S:NM_000069:exon11:c.T1551C:p.G517G 0.57 0.94 0.65 0.23 0.66 0.28 0.5839 0.8970 0.5714 0.2245 0.5327 0.6553 0.5573 0.3168 0.74 0.88 0.66 0.67 0.69 rs4915477 COSM4143154 1(thyroid) Benign|Benign|Benign not_specified|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility RCV000249332.1|RCV000305536.1|RCV000397592.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0238358:ORPHA681|C0024591:ORPHA423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5789 0.8985 0.5872 0.7038 0.2243 0.5350 0.6546 0.6124 0.3211 0.6651 0.8925 0.5788 0.72 0.2376 0.5393 0.6180 0.5665 het 1758.45 115 1 201047075 . A G 1758.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.484;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4494;MQ=59.31;MQ0=0;MQRankSum=1.889;QD=15.29;ReadPosRankSum=-0.701;VQSLOD=5.0072;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,70:115:99:1788,0,1152 1 201047111 201047111 A G exonic CACNA1S synonymous SNV CACNA1S:NM_000069:exon11:c.T1515C:p.C505C 0.13 0.028 0.2 0.001 0.34 0.12 0.2449 0.0718 0.1196 0.0010 0.2033 0.3544 0.2225 0.1449 0.28 0.079 0.38 0.098 0.4 rs9427714 . . Benign|Benign|Benign not_specified|Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis RCV000248209.2|RCV000307850.1|RCV000399670.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0024591:ORPHA423|C0238358:ORPHA681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2417 0.0647 0.1399 0.3024 0.0004 0.2051 0.3619 0.2537 0.1442 0.2296 0.0736 0.1563 0.2947 0.0018 0.2092 0.3496 0.2755 het 2368.39 170 1 201047111 . A G 2368.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.694;DP=170;Dels=0.00;FS=0.596;HRun=0;HaplotypeScore=6.3786;MQ=59.26;MQ0=0;MQRankSum=0.952;QD=13.93;ReadPosRankSum=1.463;VQSLOD=4.4541;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,90:170:99:2398,0,2003 1 201052310 201052310 A T exonic CACNA1S nonsynonymous SNV CACNA1S:NM_000069:exon10:c.T1373A:p.L458H 0.13 0.026 0.2 0.001 0.34 0.12 0.2428 0.0700 0.1187 0.0027 0.2055 0.3508 0.2223 0.1446 0.27 0.076 0.38 . 0.4 rs12742169 COSM4143155 1(thyroid) Benign|Benign|Benign not_specified|Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis RCV000250616.2|RCV000344481.1|RCV000397218.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0024591:ORPHA423|C0238358:ORPHA681 . . . . . . 0.222 0.193 T 0.835 0.443 P 0.466 0.448 P 0.631 0.058 N 1.000 0.182 P 1.38 0.345 L -4.47 0.976 D 1.7 0.006 N 0.111 0.120 -0.999 0.301 T 0.000 0.000 T . . . 2.492 0.361 19.42 0.934 0.226 0.483 0.279 N c 0.234 0.262 0.008 0.116 0.447 0.083 0 3.39 0.378 3.188 0.504 1.187 0.908 0.742 0.288 0.995 0.604 4.02 0.091 Ion transport domain|Voltage-dependent channel\x2c four helix bundle domain . . 0.2401 0.0628 0.1397 0.2989 0.0005 0.2073 0.3591 0.2525 0.1435 0.2263 0.0720 0.1547 0.2833 0.0019 0.2119 0.3441 0.2742 het 1367.96 97 1 201052310 . A T 1367.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.382;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5491;MQ=58.41;MQ0=0;MQRankSum=-0.213;QD=14.10;ReadPosRankSum=0.025;VQSLOD=4.9757;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,52:97:99:1398,0,1293 1 201052312 201052312 A C exonic CACNA1S synonymous SNV CACNA1S:NM_000069:exon10:c.T1371G:p.P457P 0.13 0.026 0.2 0.001 0.34 0.12 0.2428 0.0700 0.1188 0.0027 0.2053 0.3509 0.2228 0.1446 0.27 0.076 0.38 . 0.4 rs12742170 COSM4143156 1(thyroid) Benign|Benign|Benign not_specified|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility RCV000245662.2|RCV000314241.1|RCV000371257.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0238358:ORPHA681|C0024591:ORPHA423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2401 0.0628 0.1396 0.2991 0.0005 0.2073 0.3590 0.2526 0.1434 0.2263 0.0721 0.1539 0.2833 0.0019 0.2117 0.3443 0.2731 het 1550.79 100 1 201052312 . A C 1550.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.420;DP=100;Dels=0.00;FS=1.074;HRun=0;HaplotypeScore=3.7507;MQ=58.46;MQ0=0;MQRankSum=0.319;QD=15.51;ReadPosRankSum=0.011;VQSLOD=5.6796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,54:100:99:1581,0,1239 1 201060865 201060865 G A exonic CACNA1S synonymous SNV CACNA1S:NM_000069:exon5:c.C597T:p.I199I 0.31 0.052 0.4 0.39 0.41 0.38 0.3887 0.1029 0.3542 0.3588 0.3679 0.4304 0.3825 0.4481 0.33 0.11 0.44 0.29 0.38 rs2296383 COSM4143157 1(bone);1(thyroid) Benign|Benign|Benign not_specified|Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis RCV000251904.2|RCV000330113.1|RCV000389135.1 MedGen|MedGen:Orphanet|MedGen:Orphanet CN169374|C0024591:ORPHA423|C0238358:ORPHA681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3900 0.0999 0.3508 0.4607 0.3573 0.3669 0.4290 0.3812 0.4491 0.3251 0.1063 0.3421 0.4503 0.3453 0.3780 0.4281 0.4236 het 1885.21 129 1 201060865 . G A 1885.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.755;DP=129;Dels=0.00;FS=20.574;HRun=1;HaplotypeScore=2.9194;MQ=59.64;MQ0=0;MQRankSum=1.859;QD=14.61;ReadPosRankSum=-0.789;VQSLOD=2.2981;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,63:129:99:1915,0,1820 1 201112981 201112981 A G exonic TMEM9 synonymous SNV TMEM9:NM_001288565:exon4:c.T366C:p.Y122Y,TMEM9:NM_001288564:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288566:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288567:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288568:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288569:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288570:exon5:c.T375C:p.Y125Y,TMEM9:NM_001288571:exon5:c.T441C:p.Y147Y,TMEM9:NM_016456:exon5:c.T366C:p.Y122Y 0.69 0.64 0.71 0.63 0.76 0.75 0.7481 0.6552 0.7542 0.6292 0.7885 0.7737 0.7212 0.7465 0.73 0.66 0.77 0.75 0.81 rs8158 COSM146726 1(stomach);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7484 0.6545 0.7532 0.7485 0.6322 0.7872 0.7705 0.7393 0.7478 0.7396 0.6534 0.7578 0.7616 0.6205 0.7978 0.7846 0.7821 het 762.15 77 1 201112981 . A G 762.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.803;DP=77;Dels=0.00;FS=0.898;HRun=0;HaplotypeScore=3.4107;MQ=58.72;MQ0=0;MQRankSum=-1.290;QD=9.90;ReadPosRankSum=-0.768;VQSLOD=5.3479;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,30:77:99:792,0,1242 1 201122947 201122947 T G exonic TMEM9 synonymous SNV TMEM9:NM_001288571:exon2:c.A105C:p.T35T 0.94 0.95 0.96 0.88 0.95 0.97 0.9443 0.9419 0.9394 0.8703 0.9328 0.9509 0.9340 0.9659 0.95 0.94 0.95 0.97 . rs1925361 COSM4143159 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9418 0.9408 0.9390 0.9269 0.8653 0.9365 0.9512 0.9386 0.9631 0.9437 0.9397 0.9415 0.9437 0.8529 0.9450 0.9548 0.9572 hom 1582.64 52 1 201122947 . T G 1582.64 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3670;MQ=58.20;MQ0=0;QD=30.44;VQSLOD=7.8823;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1616,138,0 1 201182609 201182609 G A exonic IGFN1 nonsynonymous SNV IGFN1:NM_001164586:exon12:c.G8588A:p.R2863Q 0.0086 . 0.0072 0.002 0.013 0.024 0.0119 0.0027 0.0067 0 0.0249 0.0122 0.0254 0.0203 0.011 0.0027 0.016 . 0.0082 rs61742375 . . . . . . . . . . . . . 0.412 0.101 T 0.229 0.288 B 0.031 0.206 B 0.973 0.078 N 1 0.090 N 1.67 0.430 L 0.44 0.566 T -0.11 0.087 N 0.021 0.052 -1.078 0.078 T 0.044 0.188 T . . . 0.027 0.096 2.847 0.505 0.043 0.008 0.031 N c -1.369 -1.483 0.004 0.104 0.487 0.133 0 -2.54 0.059 -1.576 0.022 -1.146 0.017 0.000 0.063 0.000 0.016 8.178 0.303 . . . 0.0125 0.0020 0.0054 0.0153 0 0.0268 0.0129 0.0162 0.0195 0.0117 0.0023 0.0036 0.0166 0 0.0301 0.0142 0.0143 het 1479.34 107 1 201182609 . G A 1479.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.021;DP=107;Dels=0.00;FS=2.687;HRun=0;HaplotypeScore=3.8153;MQ=58.72;MQ0=0;MQRankSum=0.868;QD=13.83;ReadPosRankSum=-1.586;VQSLOD=5.1338;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1509,0,1355 1 201183363 201183363 C T exonic IGFN1 synonymous SNV IGFN1:NM_001164586:exon13:c.C8787T:p.A2929A 0.33 0.25 0.32 0.31 0.35 0.42 0.3309 0.2652 0.2791 0.3460 0.3297 0.3360 0.3374 0.3800 0.31 0.27 0.33 0.35 0.25 rs2282415 COSM3750751;COSM3750752 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3281 0.2644 0.2948 0.2907 0.3429 0.3243 0.3349 0.3311 0.3774 0.3172 0.2739 0.2971 0.3 0.3493 0.3307 0.3378 0.3101 hom 2018.15 65 1 201183363 . C T 2018.15 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;QD=31.05;VQSLOD=8.5588;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2051,159,0 1 201183402 201183402 T C exonic IGFN1 synonymous SNV IGFN1:NM_001164586:exon13:c.T8826C:p.P2942P 0.32 0.19 0.33 0.34 0.35 0.42 0.3305 0.2114 0.2971 0.3783 0.3328 0.3356 0.3396 0.3815 0.29 0.22 0.33 0.3 0.27 rs1568810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3290 0.2109 0.3092 0.2765 0.3717 0.3294 0.3353 0.3319 0.3786 0.3040 0.2196 0.3079 0.2933 0.3739 0.3372 0.3376 0.3088 hom 2600.01 87 1 201183402 . T C 2600.01 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=58.58;MQ0=0;QD=29.89;VQSLOD=8.9016;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2633,211,0 1 201184275 201184275 C T exonic IGFN1 synonymous SNV IGFN1:NM_001164586:exon14:c.C8988T:p.T2996T 0.33 0.24 0.33 0.35 0.35 0.42 0.3371 0.2592 0.2976 0.3818 0.3390 0.3375 0.3484 0.3881 0.31 0.27 0.34 0.33 0.3 rs2275673 COSM5448317;COSM5448318 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3339 0.2586 0.3110 0.2945 0.3748 0.3297 0.3365 0.3360 0.3791 0.3181 0.2670 0.3110 0.2980 0.3762 0.3377 0.3383 0.3088 hom 1980.04 63 1 201184275 . C T 1980.04 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7819;MQ=59.04;MQ0=0;QD=31.43;VQSLOD=9.1402;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2013,159,0 1 201187764 201187764 T C exonic IGFN1 synonymous SNV IGFN1:NM_001164586:exon18:c.T9876C:p.A3292A 0.93 0.96 0.85 1. 0.89 0.91 0.8916 0.9538 0.8148 0.9993 0.9397 0.8801 0.8811 0.8778 0.9 0.95 0.88 0.95 0.86 rs10920144 COSM3750758;COSM3750757 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8874 0.9555 0.8241 0.7871 0.9992 0.9337 0.8846 0.8877 0.8747 0.9189 0.9570 0.8409 0.7848 0.9994 0.9450 0.8900 0.9041 hom 2082.13 69 1 201187764 . T C 2082.13 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=30.18;VQSLOD=8.4416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2115,171,0 1 201195119 201195119 C T exonic IGFN1 nonsynonymous SNV IGFN1:NM_001164586:exon22:c.C10654T:p.H3552Y 0.57 0.2 0.59 0.83 0.7 0.64 0.6315 0.2792 0.5636 0.8222 0.6606 0.6722 0.6609 0.6219 0.54 0.29 0.67 0.52 0.59 rs3738270 COSM424999;COSM424998 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.04 0.421 D 0.076 0.227 B 0.11 0.299 B 0.005 0.330 N 0.999 0.588 P 0.5 0.134 N 0.4 0.573 T -1.87 0.437 N 0.154 0.232 -1.033 0.195 T 0.000 0.000 T . . . 2.138 0.318 17.10 0.842 0.146 0.584 0.304 D c -0.112 -0.073 0.001 0.075 0.497 0.185 0 3.09 0.345 2.888 0.480 0.013 0.140 1.000 0.715 0.080 0.181 6.551 0.215 Fibronectin type III|Immunoglobulin-like fold . . 0.6330 0.2684 0.5807 0.5458 0.8261 0.6596 0.6793 0.6449 0.6031 0.5660 0.2865 0.5789 0.5596 0.8296 0.6685 0.6717 0.6230 hom 1928.21 60 1 201195119 . C T 1928.21 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.96;MQ0=0;QD=32.14;VQSLOD=9.7416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1961,159,0 1 201285759 201285759 A G exonic PKP1 synonymous SNV PKP1:NM_000299:exon4:c.A780G:p.K260K,PKP1:NM_001005337:exon4:c.A780G:p.K260K 0.97 0.89 0.99 1. 1. 1. 0.9892 0.9053 0.9961 1 1 0.9974 0.9900 0.9937 0.97 0.91 1. 0.95 0.98 rs1779297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9904 0.9000 0.9935 0.9787 1 1 0.9984 0.9903 0.9938 0.9708 0.9016 0.9928 0.9669 1 1 0.9988 0.9898 hom 1371.95 41 1 201285759 . A G 1371.95 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.46;VQSLOD=13.1398;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1405,111,0 1 201334382 201334382 G A exonic TNNT2 synonymous SNV TNNT2:NM_001001432:exon8:c.C303T:p.I101I,TNNT2:NM_001001430:exon9:c.C318T:p.I106I,TNNT2:NM_001001431:exon9:c.C318T:p.I106I,TNNT2:NM_001276347:exon9:c.C318T:p.I106I,TNNT2:NM_000364:exon10:c.C348T:p.I116I,TNNT2:NM_001276345:exon10:c.C348T:p.I116I 0.7 0.63 0.8 0.53 0.74 0.84 0.7194 0.6243 0.7690 0.5480 0.7971 0.7147 0.7775 0.8187 0.68 0.61 0.72 0.69 0.7 rs3729547 COSM4143201;COSM1337831;COSM4143200 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign\x2cUncertain significance not_specified|Cardiovascular_phenotype|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant|Familial_restrictive_cardiomyopathy|Hypertrophic_cardiomyopathy\x2cnot_specified RCV000036579.4|RCV000243565.1|RCV000262774.1|RCV000266465.1|RCV000321667.1|RCV000357724.1\x2cRCV000168966.2 MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen:Orphanet\x2cMedGen CN169374|CN230736|HP:0011664:C4021133|CN239310|C0340429:ORPHA217635:233878008|HP:0001639:C0007194:ORPHA217569\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7237 0.6147 0.7649 0.7724 0.5437 0.7888 0.7096 0.7523 0.8175 0.6921 0.6157 0.7685 0.7682 0.5336 0.7944 0.7202 0.7454 het 4183.08 250 1 201334382 . G A 4183.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.976;DP=250;DS;Dels=0.00;FS=8.118;HRun=1;HaplotypeScore=5.7411;MQ=58.85;MQ0=0;MQRankSum=-1.385;QD=16.73;ReadPosRankSum=0.075;VQSLOD=3.6809;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3544,0,3045 1 201351421 201351421 T A exonic LAD1 nonsynonymous SNV LAD1:NM_005558:exon9:c.A1507T:p.T503S 0.046 0.0076 0.052 0.06 0.072 0.051 0.0720 0.0184 0.0726 0.0651 0.0493 0.0863 0.0519 0.0614 0.062 0.023 0.082 0.011 0.074 rs2275866 . . . . . . . . . . . . . 0.399 0.237 T 0.206 0.282 B 0.124 0.310 B 0.209 0.164 N 1.000 0.205 N 2.52 0.738 M 0.96 0.429 T -1.06 0.297 N 0.079 0.071 -1.069 0.095 T 0.005 0.015 T . . . 1.117 0.201 11.31 0.879 0.170 0.481 0.279 N c -0.605 -0.588 1.000 0.473 0.661 0.498 0 0.451 0.158 0.064 0.142 0.076 0.183 0.833 0.299 0.352 0.246 3.250 0.064 . . . 0.0709 0.0175 0.0742 0.0710 0.0655 0.0485 0.0857 0.0636 0.0611 0.0615 0.0183 0.0740 0.0695 0.0686 0.0476 0.0870 0.0821 het 2852.87 242 1 201351421 . T A 2852.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.050;DP=242;DS;Dels=0.00;FS=5.481;HRun=0;HaplotypeScore=4.4399;MQ=59.17;MQ0=0;MQRankSum=0.306;QD=11.79;ReadPosRankSum=1.596;VQSLOD=4.5539;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:116,125:242:99:2883,0,2852 1 201355522 201355522 T C exonic LAD1 nonsynonymous SNV LAD1:NM_005558:exon3:c.A967G:p.K323E 0.55 0.88 0.38 0.52 0.46 0.36 0.5229 0.8224 0.3619 0.5384 0.5098 0.5149 0.5120 0.4093 0.6 0.8 0.49 0.62 0.32 rs4128458 COSM4785154;COSM3750761 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.902 0.074 N 1 0.090 P -1.75 0.003 N 2.88 0.104 T 1.45 0.008 N 0.015 0.002 -1.015 0.252 T 0.000 0.000 T . . . -0.908 0.036 0.025 0.227 0.009 0.001 0.008 N c -1.437 -1.315 1.000 0.480 0.732 0.924 0 1.65 0.229 1.159 0.311 0.027 0.148 0.165 0.236 0.061 0.171 6.814 0.229 . ENSG00000159166.9 Esophagus_Mucosa 0.4966 0.8277 0.3580 0.5394 0.5197 0.4971 0.4878 0.4925 0.3803 0.5803 0.8108 0.3756 0.5662 0.5216 0.4839 0.4924 0.4866 het 279.18 34 1 201355522 . T C 279.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.031;DP=34;Dels=0.00;FS=1.917;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.436;QD=8.21;ReadPosRankSum=-2.282;VQSLOD=4.4628;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,11:34:99:309,0,651 1 201355943 201355943 C T exonic LAD1 synonymous SNV LAD1:NM_005558:exon3:c.G546A:p.K182K 0.52 0.75 0.38 0.52 0.46 0.36 0.4814 0.7095 0.3261 0.5141 0.4855 0.4932 0.4692 0.3814 0.56 0.69 0.49 0.56 0.5 rs2799677 COSM4785127;COSM3750762 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4748 0.7147 0.3404 0.5428 0.5186 0.4969 0.4899 0.4859 0.3828 0.5481 0.7022 0.3663 0.5667 0.5199 0.4834 0.4906 0.4806 het 1739.68 158 1 201355943 . C T 1739.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.802;DP=158;Dels=0.00;FS=7.390;HRun=2;HaplotypeScore=3.2962;MQ=57.70;MQ0=0;MQRankSum=-0.707;QD=11.01;ReadPosRankSum=1.233;VQSLOD=4.0459;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:93,65:158:99:1770,0,2537 1 201356002 201356004 CCA - exonic LAD1 nonframeshift deletion LAD1:NM_005558:exon3:c.485_487del:p.V162del 0.06 0.067 0.05 0.058 0.069 0.052 0.0777 0.0717 0.0809 0.0695 0.0553 0.0828 0.0749 0.0704 0.12 0.19 0.087 . . rs78190062 COSM5713045;COSM5713046 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0754 0.0661 0.0826 0.0736 0.0701 0.0554 0.0814 0.0746 0.0672 0.0682 0.0573 0.0766 0.0728 0.0722 0.0501 0.0772 0.0764 het 1558.01 102 1 201356001 . CCCA C 1558.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.087;DP=102;FS=2.766;HRun=0;HaplotypeScore=417.1740;MQ=55.67;MQ0=0;MQRankSum=-3.681;QD=15.13;ReadPosRankSum=0.817;set=variant2 GT:AD:DP:GQ:PL 0/1:65,38:102:99:1597,0,3558 1 201358304 201358304 C A exonic LAD1 nonsynonymous SNV LAD1:NM_005558:exon2:c.G166T:p.A56S 0.18 0.36 0.073 0.11 0.094 0.17 0.1338 0.3180 0.0988 0.1163 0.1246 0.1082 0.1197 0.1591 0.18 0.32 0.1 0.23 0.14 rs3738281 COSM3997141 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.943 0.023 T 0.038 0.254 B 0.034 0.275 B 0.369 0.043 U 1 0.090 P 0.69 0.170 N 2.77 0.115 T 0.34 0.040 N 0.032 0.012 -0.938 0.430 T 0.000 0.000 T . . . -1.095 0.029 0.010 0.193 0.006 0.048 0.104 N c -1.431 -1.418 1.000 0.410 0.626 0.397 0 0.998 0.189 -1.189 0.031 -1.660 0.008 0.000 0.063 0.004 0.083 5.229 0.146 . . . 0.1284 0.3249 0.1025 0.0971 0.1175 0.1258 0.1071 0.1201 0.1552 0.1684 0.3073 0.1086 0.0960 0.1159 0.1331 0.1087 0.1344 het 1900.16 159 1 201358304 . C A 1900.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.325;DP=159;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6630;MQ=59.20;MQ0=0;MQRankSum=0.802;QD=11.95;ReadPosRankSum=3.429;VQSLOD=3.2030;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,73:159:99:1930,0,2466 1 201869257 201869257 G A exonic LMOD1 nonsynonymous SNV LMOD1:NM_012134:exon2:c.C884T:p.T295M 0.22 0.2 0.22 0.1 0.3 0.26 0.2790 0.2205 0.2611 0.1030 0.2989 0.3112 0.2650 0.2809 0.28 0.21 0.31 0.22 . rs2820312 COSM3997144 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.288 0.151 T 0.004 0.515 B 0.002 0.314 B 0.220 0.034 N 1 0.090 P 0.345 0.112 N -3.03 0.923 D -0.46 0.150 N 0.062 0.048 -1.046 0.156 T 0.000 0.000 T . . . 0.006 0.094 2.646 0.858 0.156 0.561 0.298 D c -1.508 -1.505 1.000 0.407 0.615 0.372 0 0.581 0.165 0.115 0.153 -2.238 0.004 0.000 0.063 0.000 0.016 8.724 0.334 . ENSG00000223774.1|ENSG00000163431.11|ENSG00000223774.1|ENSG00000223774.1|ENSG00000163431.11|ENSG00000223774.1|ENSG00000163431.11|ENSG00000223774.1|ENSG00000163431.11|ENSG00000163431.11|ENSG00000198892.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Thyroid 0.2780 0.2164 0.2529 0.1892 0.1068 0.3043 0.3227 0.2665 0.2815 0.2830 0.2239 0.2422 0.2119 0.1035 0.3088 0.3339 0.2914 hom 1819.53 58 1 201869257 . G A 1819.53 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.672;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8109;MQ=58.11;MQ0=0;MQRankSum=1.611;QD=31.37;ReadPosRankSum=0.456;VQSLOD=6.1173;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,56:58:99:1853,153,0 1 201969082 201969082 G A exonic RNPEP synonymous SNV RNPEP:NM_001319183:exon5:c.G273A:p.Q91Q,RNPEP:NM_001319184:exon5:c.G273A:p.Q91Q,RNPEP:NM_001319182:exon6:c.G750A:p.Q250Q,RNPEP:NM_020216:exon6:c.G1143A:p.Q381Q 0.31 0.16 0.44 0.4 0.43 0.21 0.3890 0.1733 0.4256 0.4336 0.4019 0.4454 0.3770 0.2415 0.35 0.18 0.43 0.33 0.27 rs1130790 COSM146734;COSM4143213 1(stomach);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3940 0.1692 0.4307 0.4733 0.4353 0.3892 0.4436 0.4264 0.2353 0.3637 0.1828 0.4306 0.4238 0.4594 0.3927 0.4440 0.4153 hom 1337.95 46 1 201969082 . G A 1337.95 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=29.09;VQSLOD=8.8637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1371,108,0 1 201970562 201970562 T C exonic RNPEP synonymous SNV RNPEP:NM_001319183:exon6:c.T393C:p.V131V,RNPEP:NM_001319184:exon6:c.T393C:p.V131V,RNPEP:NM_001319182:exon7:c.T870C:p.V290V,RNPEP:NM_020216:exon7:c.T1263C:p.V421V 0.98 0.92 0.99 1. 1. 1. 0.9938 0.9325 0.9965 1 1 0.9998 0.9978 1 0.98 0.94 1. 0.97 1. rs4332408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9950 0.9297 0.9965 0.9997 1 1 0.9998 0.9969 0.9999 0.9810 0.9344 0.9928 1 1 1 0.9996 0.9959 hom 3467.89 112 1 201970562 . T C 3467.89 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=60.00;MQ0=0;QD=30.96;VQSLOD=8.8081;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3468,262,0 1 202092332 202092332 C G exonic GPR37L1 nonsynonymous SNV GPR37L1:NM_004767:exon1:c.C241G:p.P81A 0.22 0.31 0.26 0.34 0.061 0.13 0.1421 0.2906 0.3184 0.3507 0.0733 0.0698 0.1312 0.1356 0.14 0.28 0.062 0.24 0.066 rs3795594 COSM3750765 1(large_intestine) . . . . . . . . . . . 0.074 0.346 T 0.0 0.026 B 0.0 0.013 B 0.931 0.075 N 1 0.090 P 1.43 0.360 L -1.22 0.788 T -0.83 0.227 N 0.034 0.017 -1.030 0.204 T 0.000 0.000 T . . . 0.017 0.095 2.751 0.907 0.193 0.064 0.123 N c -0.866 -0.860 0.955 0.281 0.497 0.185 0 -0.693 0.107 -1.196 0.031 -0.035 0.126 0.000 0.063 0.963 0.446 3.917 0.087 . . . 0.1439 0.2909 0.3080 0.1111 0.3373 0.0733 0.0638 0.1263 0.1373 0.1447 0.2815 0.2943 0.1225 0.3333 0.0737 0.0563 0.1029 het 921.45 68 1 202092332 . C G 921.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.442;DP=68;Dels=0.00;FS=1.000;HRun=1;HaplotypeScore=6.8484;MQ=59.27;MQ0=0;MQRankSum=1.203;QD=13.55;ReadPosRankSum=-0.086;VQSLOD=4.1377;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:33,35:68:99:951,0,903 1 202092360 202092360 G A exonic GPR37L1 nonsynonymous SNV GPR37L1:NM_004767:exon1:c.G269A:p.G90D 0.85 0.78 0.83 0.84 0.91 0.92 0.8861 0.7940 0.8303 0.8242 0.9472 0.9033 0.9056 0.9200 0.87 0.81 0.89 0.8 0.9 rs3795595 COSM3997145 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.059 0.224 N 1 0.090 P -1.995 0.002 N -1.25 0.791 T 2.04 0.004 N 0.018 0.003 -0.986 0.337 T 0.000 0.000 T . . . -0.929 0.035 0.022 0.109 0.002 0.016 0.052 N c -1.390 -1.312 0.952 0.279 0.497 0.185 0 -0.436 0.116 -0.480 0.066 0.168 0.246 0.000 0.063 0.987 0.523 5.969 0.185 . . . 0.8850 0.7948 0.8281 0.8571 0.8252 0.9511 0.9037 0.8874 0.9182 0.8765 0.7910 0.8413 0.8676 0.8294 0.9502 0.9139 0.9151 het 1025.04 83 1 202092360 . G A 1025.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.539;DP=83;Dels=0.00;FS=3.244;HRun=0;HaplotypeScore=2.8120;MQ=58.55;MQ0=0;MQRankSum=-0.682;QD=12.35;ReadPosRankSum=-0.673;VQSLOD=5.2558;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:1055,0,1061 1 202092415 202092415 A G exonic GPR37L1 synonymous SNV GPR37L1:NM_004767:exon1:c.A324G:p.G108G 0.85 0.78 0.83 0.84 0.91 0.92 0.8870 0.8008 0.8315 0.8274 0.9470 0.9033 0.9051 0.9204 0.87 0.82 0.89 0.8 0.92 rs3795596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8857 0.8006 0.8289 0.8572 0.8276 0.9510 0.9038 0.8878 0.9186 0.8782 0.7962 0.8413 0.8676 0.8325 0.9502 0.9139 0.9141 het 1594.18 117 1 202092415 . A G 1594.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.107;DP=117;Dels=0.00;FS=1.485;HRun=2;HaplotypeScore=9.7394;MQ=58.48;MQ0=0;MQRankSum=1.195;QD=13.63;ReadPosRankSum=0.494;VQSLOD=4.3446;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,59:117:99:1624,0,1543 1 202092580 202092580 T C exonic GPR37L1 synonymous SNV GPR37L1:NM_004767:exon1:c.T489C:p.S163S 0.83 0.71 0.82 0.84 0.91 0.92 0.8819 0.7423 0.8287 0.8298 0.9474 0.9033 0.9051 0.9204 0.85 0.76 0.89 0.8 0.92 rs7516762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8814 0.7393 0.8251 0.8560 0.8302 0.9511 0.9037 0.8852 0.9185 0.8607 0.7345 0.8401 0.8642 0.8369 0.9505 0.9135 0.9114 het 797.49 64 1 202092580 . T C 797.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.155;DP=64;Dels=0.00;FS=5.109;HRun=0;HaplotypeScore=0.6651;MQ=59.64;MQ0=0;MQRankSum=1.720;QD=12.46;ReadPosRankSum=-0.322;VQSLOD=5.7771;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,33:64:99:827,0,842 1 202276494 202276494 C T exonic LGR6 synonymous SNV LGR6:NM_001017404:exon12:c.C828T:p.P276P,LGR6:NM_001017403:exon14:c.C1245T:p.P415P,LGR6:NM_021636:exon14:c.C1089T:p.P363P 0.53 0.27 0.64 0.72 0.54 0.61 0.5399 0.3039 0.7300 0.7050 0.5573 0.5070 0.5210 0.5958 0.44 0.31 0.5 0.53 0.46 rs896551 COSM3746729;COSM3746728 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5532 0.3005 0.7224 0.4109 0.7035 0.5648 0.5123 0.5308 0.5997 0.4766 0.3042 0.6758 0.3907 0.6989 0.5656 0.5196 0.5246 hom 6541.76 207 1 202276494 . C T 6541.76 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9795;MQ=58.85;MQ0=0;QD=31.60;VQSLOD=6.6577;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6541,500,0 1 202287206 202287206 T C exonic LGR6 nonsynonymous SNV LGR6:NM_001017404:exon16:c.T1358C:p.V453A,LGR6:NM_001017403:exon18:c.T1775C:p.V592A,LGR6:NM_021636:exon18:c.T1619C:p.V540A 0.61 0.34 0.72 0.77 0.64 0.71 0.6340 0.3640 0.7820 0.7521 0.6557 0.6164 0.6366 0.7008 0.53 0.37 0.61 0.58 0.53 rs788795 COSM1748082;COSM3722364;COSM3930582 2(urinary_tract);1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.803 0.034 T 0.0 0.026 B 0.0 0.063 B 0.752 0.097 N 1 0.090 P -0.55 0.024 N -2.46 0.889 D 0.65 0.040 N 0.068 0.055 -0.987 0.335 T 0.000 0.000 T . . . -2.217 0.006 0.001 0.520 0.046 0.128 0.173 N c -1.374 -1.360 0.999 0.392 0.554 0.283 0 -5.15 0.026 0.144 0.158 0.044 0.157 0.000 0.063 0.003 0.074 10.392 0.432 Leucine-rich repeat domain\x2c L domain-like . . 0.6464 0.3624 0.7761 0.5813 0.7498 0.6599 0.6180 0.6435 0.7025 0.5637 0.3655 0.7363 0.5364 0.7417 0.6584 0.6243 0.6283 hom 3861.85 127 1 202287206 . T C 3861.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.751;DP=127;Dels=0.00;FS=9.469;HRun=5;HaplotypeScore=6.2167;MQ=59.19;MQ0=0;MQRankSum=-0.244;QD=30.41;ReadPosRankSum=-0.537;VQSLOD=2.6793;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,125:127:99:3793,260,0 1 202287537 202287537 G A exonic LGR6 synonymous SNV LGR6:NM_001017404:exon16:c.G1689A:p.A563A,LGR6:NM_001017403:exon18:c.G2106A:p.A702A,LGR6:NM_021636:exon18:c.G1950A:p.A650A 0.53 0.28 0.62 0.72 0.53 0.61 0.5457 0.3310 0.7283 0.7094 0.5688 0.4997 0.5466 0.6231 0.42 0.31 0.48 0.47 0.3 rs788794 COSM4143220;COSM3750769;COSM3750768 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5424 0.3086 0.7114 0.3991 0.7038 0.5465 0.4904 0.5156 0.6050 0.4601 0.3061 0.6535 0.3675 0.6993 0.5396 0.4930 0.5123 hom 621.79 23 1 202287537 . G A 621.79 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7046;MQ=56.91;MQ0=0;QD=27.03;VQSLOD=3.7180;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:60.13:655,60,0 1 202287813 202287813 T C exonic LGR6 synonymous SNV LGR6:NM_001017404:exon16:c.T1965C:p.F655F,LGR6:NM_001017403:exon18:c.T2382C:p.F794F,LGR6:NM_021636:exon18:c.T2226C:p.F742F 0.61 0.34 0.72 0.77 0.64 0.71 0.6340 0.3663 0.7821 0.7511 0.6543 0.6163 0.6358 0.7007 0.53 0.37 0.61 0.56 0.57 rs788793 COSM3746733;COSM3746732;COSM4143221 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6464 0.3644 0.7760 0.5815 0.7497 0.6594 0.6179 0.6440 0.7026 0.5643 0.3683 0.7345 0.5367 0.7401 0.6583 0.6242 0.6299 hom 5592.67 175 1 202287813 . T C 5592.67 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.936;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3118;MQ=59.36;MQ0=0;MQRankSum=1.493;QD=31.96;ReadPosRankSum=1.692;VQSLOD=8.7891;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,173:175:99:5554,435,0 1 202705455 202705455 G C exonic KDM5B synonymous SNV KDM5B:NM_001347591:exon20:c.C3015G:p.P1005P,KDM5B:NM_006618:exon21:c.C3150G:p.P1050P,KDM5B:NM_001314042:exon22:c.C3258G:p.P1086P 0.64 0.32 0.83 0.78 0.77 0.65 0.7394 0.3645 0.8558 0.7737 0.8102 0.7784 0.7770 0.6878 0.64 0.38 0.78 0.54 0.75 rs1141109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7528 0.3580 0.8540 0.8109 0.7696 0.7995 0.7750 0.7832 0.6913 0.6701 0.3727 0.8182 0.7848 0.7739 0.7977 0.7844 0.7745 het 1196.20 101 1 202705455 . G C 1196.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.003;DP=101;Dels=0.00;FS=0.738;HRun=1;HaplotypeScore=2.8313;MQ=59.40;MQ0=0;MQRankSum=-0.160;QD=11.84;ReadPosRankSum=0.459;VQSLOD=6.6606;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,48:101:99:1226,0,1309 1 202715284 202715284 G A exonic KDM5B synonymous SNV KDM5B:NM_001347591:exon14:c.C2049T:p.Y683Y,KDM5B:NM_006618:exon15:c.C2184T:p.Y728Y,KDM5B:NM_001314042:exon16:c.C2292T:p.Y764Y 0.64 0.32 0.83 0.78 0.77 0.64 0.7400 0.3646 0.8561 0.7735 0.8100 0.7789 0.7765 0.6903 0.64 0.38 0.78 0.54 0.75 rs1141108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7522 0.3602 0.8526 0.8103 0.7712 0.7995 0.7751 0.7825 0.6909 0.6704 0.3723 0.8182 0.7848 0.7726 0.7974 0.7855 0.7746 het 1142.50 99 1 202715284 . G A 1142.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.990;DP=99;Dels=0.00;FS=7.075;HRun=0;HaplotypeScore=0.8941;MQ=59.58;MQ0=0;MQRankSum=0.681;QD=11.54;ReadPosRankSum=0.540;VQSLOD=5.2507;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,43:99:99:1172,0,1465 1 202718202 202718202 G A exonic KDM5B synonymous SNV KDM5B:NM_001347591:exon13:c.C1752T:p.H584H,KDM5B:NM_006618:exon14:c.C1887T:p.H629H,KDM5B:NM_001314042:exon15:c.C1995T:p.H665H 0.52 0.24 0.67 0.52 0.74 0.57 0.6691 0.2987 0.6368 0.5314 0.7878 0.7472 0.7318 0.6305 0.6 0.31 0.75 0.48 0.69 rs1892164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6767 0.2906 0.6409 0.7929 0.5214 0.7772 0.7429 0.7260 0.6357 0.6131 0.3071 0.6495 0.7715 0.5130 0.7742 0.7517 0.7210 het 1897.22 143 1 202718202 . G A 1897.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.216;DP=143;Dels=0.00;FS=1.435;HRun=0;HaplotypeScore=9.7412;MQ=58.79;MQ0=0;MQRankSum=0.461;QD=13.27;ReadPosRankSum=1.371;VQSLOD=4.3251;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,72:143:99:1927,0,1843 1 202731846 202731846 G T exonic KDM5B nonsynonymous SNV KDM5B:NM_001347591:exon6:c.C764A:p.S255Y,KDM5B:NM_006618:exon7:c.C899A:p.S300Y,KDM5B:NM_001314042:exon8:c.C1007A:p.S336Y . . . . . . 8.239e-06 9.614e-05 0 0 0 0 0 0 0.0001 0.0002 . . . rs373039357 . . . . . . . . . . . . . 0.145 0.251 T 0.001 0.067 B 0.004 0.093 B 0.684 0.102 N 0.734 0.298 N 1.39 0.351 L -2.0 0.862 D -1.15 0.295 N 0.116 0.129 -0.226 0.770 T 0.567 0.843 D 0.043 0.607 D 2.835 0.401 21.5 0.757 0.108 0.931 0.570 D c 0.047 0.222 0.545 0.213 0.707 0.730 0 5.46 0.799 4.764 0.617 1.048 0.713 1.000 0.715 0.978 0.483 17.493 0.875 Zinc finger\x2c FYVE/PHD-type|Zinc finger\x2c PHD-finger|Zinc finger\x2c PHD-type|Zinc finger\x2c PHD-type\x2c conserved site|Zinc finger\x2c RING/FYVE/PHD-type;Zinc finger\x2c RING/FYVE/PHD-type . . 2.438e-05 6.537e-05 0 0 0 0 4.48e-05 0 0 3.23e-05 0 0 0 0 0 6.668e-05 0 het 2248.66 214 1 202731846 . G T 2248.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.029;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9800;MQ=57.56;MQ0=0;MQRankSum=-0.944;QD=10.51;ReadPosRankSum=-0.984;VQSLOD=2.7026;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:121,93:214:99:2279,0,3120 1 202733238 202733238 C T exonic KDM5B synonymous SNV KDM5B:NM_001347591:exon5:c.G612A:p.T204T,KDM5B:NM_006618:exon6:c.G747A:p.T249T,KDM5B:NM_001314042:exon7:c.G855A:p.T285T 0.64 0.32 0.83 0.77 0.77 0.64 0.7371 0.3644 0.8533 0.7551 0.8088 0.7781 0.7742 0.6840 0.64 0.38 0.78 0.54 0.73 rs3196669 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7410 0.3487 0.8363 0.8069 0.7417 0.7959 0.7698 0.7677 0.6711 0.6698 0.3734 0.8170 0.7848 0.7540 0.7971 0.7858 0.7765 het 1441.81 98 1 202733238 . C T 1441.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.541;DP=98;Dels=0.00;FS=1.716;HRun=0;HaplotypeScore=4.8676;MQ=58.11;MQ0=0;MQRankSum=0.822;QD=14.71;ReadPosRankSum=0.564;VQSLOD=5.0812;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,56:98:99:1472,0,935 1 203028371 203028371 G T exonic PPFIA4 nonsynonymous SNV PPFIA4:NM_001304331:exon20:c.G2473T:p.A825S,PPFIA4:NM_001304332:exon20:c.G2473T:p.A825S 0.12 0.013 0.12 0.16 0.18 0.18 0.2219 0.0437 0.2861 0.2507 0.3577 0.2478 0.1962 0.1936 0.13 0.039 0.17 0.11 . rs61732315 COSM3750775;COSM3750776 1(large_intestine) . . . . . . . . . . . 0.102 0.344 T 0.011 0.479 B 0.01 0.576 B 0.000 0.449 D 0.000 0.588 P 2.695 0.791 M 2.17 0.250 T -1.7 0.452 N 0.194 0.354 -1.116 0.026 T 0.000 0.001 T . . . 3.204 0.444 22.7 0.997 0.775 0.994 0.961 D c 0.382 0.462 1.000 0.747 0.615 0.372 0 4.83 0.617 8.164 0.895 0.953 0.551 1.000 0.715 1.000 0.888 11.567 0.499 . . . 0.1574 0.0264 0.1456 0.1294 0.1468 0.2029 0.1677 0.1522 0.1756 0.1444 0.0372 0.1527 0.1391 0.1545 0.2252 0.1840 0.1823 het 113.19 16 1 203028371 . G T 113.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.241;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;MQRankSum=-0.530;QD=7.07;ReadPosRankSum=-0.177;VQSLOD=5.3240;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,7:16:99:143,0,245 1 203148633 203148633 A G exonic CHI3L1 synonymous SNV CHI3L1:NM_001276:exon10:c.T1092C:p.C364C 1. 1. 1. 1. 1. 1. 0.9988 0.9998 0.9998 0.9998 1 0.9982 0.9989 0.9984 1. 1. 1. 1. 0.9 rs4950927 COSM4143245 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9997 0.9996 1 0.9999 1.0000 0.9980 0.9994 0.9982 0.9990 0.9994 1 1 0.9994 0.9997 0.9985 1 hom 2975.60 98 1 203148633 . A G 2975.60 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4942;MQ=59.34;MQ0=0;QD=30.36;VQSLOD=8.4011;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3009,244,0 1 203152801 203152801 T C exonic CHI3L1 nonsynonymous SNV CHI3L1:NM_001276:exon5:c.A433G:p.R145G 0.37 0.17 0.33 0.38 0.54 0.48 0.4553 0.2141 0.2513 0.3700 0.5475 0.5274 0.5044 0.4635 0.41 0.22 0.51 0.35 0.48 rs880633 . . . . . . . . . . . . . 0.002 0.721 D 0.849 0.449 P 0.219 0.360 B 0.000 0.469 D 0.173 0.348 P 1.705 0.444 L 3.44 0.054 T -3.25 0.652 D 0.186 0.227 -0.958 0.396 T 0.000 0.000 T . . . 4.224 0.566 23.9 0.989 0.478 0.717 0.348 D c 0.176 0.166 1.000 0.747 0.554 0.246 0 5.69 0.883 2.100 0.412 1.061 0.807 0.980 0.350 0.672 0.303 13.900 0.631 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.4514 0.2130 0.2611 0.4338 0.3749 0.5447 0.5317 0.4488 0.4674 0.4253 0.2174 0.3091 0.3808 0.3696 0.5433 0.5281 0.4928 het 1134.34 137 1 203152801 . T C 1134.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.050;DP=137;Dels=0.00;FS=2.385;HRun=2;HaplotypeScore=0.9159;MQ=58.75;MQ0=0;MQRankSum=0.161;QD=8.28;ReadPosRankSum=0.456;VQSLOD=6.0117;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,47:137:99:1164,0,2635 1 203194186 203194186 C T exonic CHIT1 nonsynonymous SNV CHIT1:NM_001270509:exon4:c.G304A:p.G102S,CHIT1:NM_003465:exon4:c.G304A:p.G102S 0.29 0.27 0.33 0.28 0.32 0.26 0.3023 0.2674 0.3741 0.2806 0.3187 0.3056 0.2753 0.2673 0.29 0.27 0.29 0.28 0.34 rs2297950 COSM146738 1(breast);1(stomach);1(pancreas);1(skin);3(prostate);1(large_intestine) other Chitotriosidase_deficiency RCV000010134.5 MedGen:OMIM C3279902:614122 . . . . . . 0.002 0.721 D 1.0 0.899 D 0.999 0.916 D 0.000 0.469 D 0.001 0.810 P 1.815 0.479 L 3.81 0.038 T -5.41 0.851 D 0.68 0.688 -0.942 0.423 T 0.000 0.000 T . . . 6.553 0.902 31 0.998 0.899 0.862 0.452 D c 0.326 0.208 1.000 0.747 0.487 0.133 0 2.59 0.300 6.673 0.741 0.855 0.374 1.000 0.715 0.981 0.494 7.755 0.279 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.3053 0.2705 0.3651 0.3222 0.2739 0.3174 0.3037 0.3081 0.2663 0.3133 0.2774 0.3489 0.3046 0.2658 0.3306 0.3331 0.3170 hom 2066.04 66 1 203194186 . C T 2066.04 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=31.30;VQSLOD=9.0767;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2099,162,0 1 203317162 203317162 C T exonic FMOD synonymous SNV FMOD:NM_002023:exon2:c.G237A:p.E79E 0.62 0.27 0.79 0.65 0.86 0.68 0.7595 0.3333 0.7511 0.6391 0.8699 0.8380 0.7973 0.7315 0.67 0.34 0.84 0.59 0.73 rs7543148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7669 0.3197 0.7486 0.7894 0.6511 0.8758 0.8378 0.7961 0.7284 0.6923 0.3346 0.7458 0.7384 0.6444 0.8630 0.8534 0.8210 het 796.51 55 1 203317162 . C T 796.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6939;MQ=59.58;MQ0=0;MQRankSum=-0.412;QD=14.48;ReadPosRankSum=0.530;VQSLOD=6.4350;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,28:55:99:827,0,792 1 203455902 203455902 A C exonic PRELP nonsynonymous SNV PRELP:NM_002725:exon3:c.A1042C:p.N348H,PRELP:NM_201348:exon3:c.A1042C:p.N348H 0.0094 0.003 0.011 . 0.033 0.002 0.0200 0.0056 0.0104 0 0.0179 0.0310 0.0231 0.0026 0.022 0.0052 0.03 0.011 0.025 rs9439 . . . . . . . . . . . . . 0.385 0.110 T 0.001 0.067 B 0.003 0.080 B 0.516 0.118 N 0.994 0.236 N 0.49 0.133 N 3.54 0.048 T -0.9 0.242 N 0.029 0.010 -0.915 0.462 T 0.005 0.015 T . . . 1.313 0.222 12.34 0.969 0.312 0.391 0.259 N c -0.570 -0.429 1.000 0.500 0.581 0.330 0 4.13 0.475 1.829 0.385 1.088 0.866 0.366 0.257 0.989 0.536 6.812 0.228 Leucine-rich repeat domain\x2c L domain-like . . 0.0212 0.0048 0.0139 0.0256 0 0.02 0.0336 0.0259 0.0030 0.0194 0.0036 0.0119 0.0199 0 0.0198 0.0305 0.0265 het 1367.36 106 1 203455902 . A C 1367.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.649;DP=106;Dels=0.00;FS=1.649;HRun=0;HaplotypeScore=3.6917;MQ=59.37;MQ0=0;MQRankSum=-0.453;QD=12.90;ReadPosRankSum=0.174;VQSLOD=5.5039;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,56:106:99:1397,0,1375 1 203652444 203652444 A G exonic ATP2B4 synonymous SNV ATP2B4:NM_001001396:exon2:c.A111G:p.S37S,ATP2B4:NM_001684:exon2:c.A111G:p.S37S 0.85 0.64 0.94 1. 0.9 0.88 0.8756 0.6773 0.9451 0.9995 0.8281 0.8862 0.8744 0.8632 0.83 0.69 0.9 0.8 0.88 rs1419114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8824 0.6716 0.9449 0.9007 0.9994 0.8288 0.8887 0.8820 0.8636 0.8229 0.6827 0.9320 0.8940 1 0.8330 0.8734 0.8545 hom 7027.11 234 1 203652444 . A G 7027.11 Mask AC=2;AF=1.00;AN=2;DP=234;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4775;MQ=59.02;MQ0=0;QD=30.03;VQSLOD=6.8734;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7026,578,0 1 203667409 203667409 T C exonic ATP2B4 synonymous SNV ATP2B4:NM_001001396:exon3:c.T318C:p.L106L,ATP2B4:NM_001684:exon3:c.T318C:p.L106L 0.86 0.67 0.94 1. 0.9 0.87 0.8801 0.7269 0.9471 0.9995 0.8281 0.8862 0.8786 0.8635 0.84 0.74 0.9 0.81 0.88 rs2228445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8859 0.7228 0.9471 0.9011 0.9994 0.8290 0.8887 0.8835 0.8636 0.8378 0.7336 0.9342 0.8940 1 0.8336 0.8739 0.8591 hom 3888.77 119 1 203667409 . T C 3888.77 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.82;MQ0=0;QD=32.68;VQSLOD=9.2713;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3888,301,0 1 203787700 203787700 T C exonic ZC3H11A synonymous SNV ZC3H11A:NM_001350264:exon4:c.T57C:p.G19G,ZC3H11A:NM_001350263:exon5:c.T57C:p.G19G,ZC3H11A:NM_001350265:exon5:c.T57C:p.G19G,ZC3H11A:NM_001319238:exon6:c.T57C:p.G19G,ZC3H11A:NM_001319239:exon6:c.T57C:p.G19G,ZC3H11A:NM_001350261:exon6:c.T57C:p.G19G,ZC3H11A:NM_001350262:exon6:c.T57C:p.G19G,ZC3H11A:NM_001350266:exon6:c.T57C:p.G19G,ZC3H11A:NM_014827:exon6:c.T57C:p.G19G 0.98 0.92 0.99 1. 1. 1. 0.9936 0.9307 0.9975 1 1 0.9997 0.9923 0.9997 0.98 0.93 1. 0.97 1. rs4951260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9950 0.9316 0.9965 1 1 0.9998 0.9997 0.9965 0.9997 0.9808 0.9332 0.9916 1 1 0.9997 0.9999 0.9969 hom 3433.84 114 1 203787700 . T C 3433.84 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.97;MQ0=0;QD=30.12;VQSLOD=8.8814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3433,268,0 1 204159612 204159612 T - exonic KISS1 stoploss KISS1:NM_002256:exon3:c.417delA:p.*139delinsWGAGAGQ* 0.22 0.081 0.25 0.41 0.22 0.2 0.2983 0.1439 0.3480 0.4710 0.3081 0.2902 0.2702 0.2473 0.17 0.085 0.2 0.011 0.049 rs71745629 COSM425060 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(endometrium) Benign not_specified RCV000454508.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2273 0.0859 0.2840 0.2151 0.4115 0.1936 0.2108 0.2233 0.2023 0.1877 0.0971 0.2218 0.2148 0.4191 0.1986 0.2080 0.2273 het 491.55 19 1 204159611 . CT C 491.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.194;DP=19;FS=0.000;HRun=1;HaplotypeScore=57.6798;MQ=60.00;MQ0=0;MQRankSum=-0.694;QD=25.87;ReadPosRankSum=-0.787;set=variant2 GT:AD:DP:GQ:PL 0/1:5,14:19:99:531,0,183 1 204237416 204237416 C T exonic PLEKHA6 nonsynonymous SNV PLEKHA6:NM_014935:exon4:c.G127A:p.V43I 0.63 0.47 0.76 0.8 0.66 0.55 0.6810 0.4996 0.8202 0.8165 0.7545 0.6828 0.6711 0.5901 0.62 0.5 0.67 0.6 0.63 rs10900571 COSM1179739 1(prostate) . . . . . . . . . . . 0.483 0.081 T 0.0 0.026 B 0.0 0.013 B 0.038 0.243 N 0.999 0.220 P -1.445 0.006 N 2.77 0.114 T 0.07 0.061 N 0.064 0.049 -1.071 0.091 T 0.000 0.000 T . . . 1.676 0.263 14.27 0.942 0.238 0.173 0.196 N c -0.948 -0.735 1.000 0.473 0.615 0.372 0 0.27 0.148 1.445 0.345 -0.720 0.036 1.000 0.715 0.825 0.345 10.037 0.411 PH domain-like . . 0.6902 0.4965 0.8063 0.7288 0.8174 0.7533 0.6743 0.6940 0.5895 0.6496 0.5020 0.7873 0.7119 0.8436 0.7477 0.6799 0.6903 het 499.63 58 1 204237416 . C T 499.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.871;DP=58;Dels=0.00;FS=6.277;HRun=0;HaplotypeScore=0.9993;MQ=59.36;MQ0=0;MQRankSum=-0.188;QD=8.61;ReadPosRankSum=0.597;VQSLOD=5.0574;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,20:58:99:530,0,898 1 204242838 204242838 A C exonic PLEKHA6 synonymous SNV PLEKHA6:NM_014935:exon3:c.T18G:p.G6G 0.2 0.13 0.24 0.29 0.18 0.2 0.1898 0.1433 0.2515 0.2752 0.2491 0.1702 0.2082 0.1863 0.16 0.15 0.17 0.22 0.11 rs33911350 COSM146743 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1931 0.1404 0.2438 0.1344 0.2742 0.2458 0.1709 0.1800 0.1820 0.1881 0.1380 0.2656 0.1567 0.2943 0.2377 0.1897 0.2020 het 966.37 60 1 204242838 . A C 966.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.855;DP=60;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9916;MQ=59.59;MQ0=0;MQRankSum=0.799;QD=16.11;ReadPosRankSum=0.784;VQSLOD=6.2280;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,39:60:99:996,0,489 1 204379452 204379452 T C exonic PPP1R15B nonsynonymous SNV PPP1R15B:NM_032833:exon1:c.A1088G:p.E363G 0.046 0.058 0.035 . 0.092 0.04 0.0626 0.0572 0.0214 0.0003 0.1260 0.0796 0.0618 0.0337 0.067 0.054 0.074 0.022 0.082 rs2089891 COSM3735950 1(skin) . . . . . . . . . . . 0.198 0.205 T 0.002 0.090 B 0.007 0.121 B 0.844 0.090 N 1 0.090 N 1.795 0.474 L 2.11 0.199 T -1.47 0.360 N 0.059 0.043 -1.003 0.290 T 0.003 0.008 T . . . 0.139 0.107 4.032 0.939 0.233 0.179 0.198 N c -1.070 -1.116 1.000 0.405 0.628 0.401 0 -0.117 0.128 0.522 0.225 0.153 0.239 0.003 0.159 0.004 0.083 4.053 0.092 Protein phosphatase 1\x2c regulatory subunit 15B\x2c N-terminal . . 0.0641 0.0588 0.0262 0.0615 0.0002 0.1311 0.0814 0.0673 0.0327 0.0860 0.0612 0.0310 0.0629 0 0.1273 0.1026 0.1020 het 1595.33 118 1 204379452 . T C 1595.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.303;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9918;MQ=58.93;MQ0=0;MQRankSum=0.127;QD=13.52;ReadPosRankSum=-0.011;VQSLOD=6.5008;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,57:118:99:1625,0,1629 1 204379617 204379617 T C exonic PPP1R15B nonsynonymous SNV PPP1R15B:NM_032833:exon1:c.A923G:p.N308S 0.97 0.89 0.99 1. 1. 1. 0.9914 0.9120 0.9956 1 0.9998 0.9990 0.9934 0.9999 0.97 0.91 1. 0.95 0.98 rs3014626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9930 0.9110 0.9936 0.9992 1 1 0.9991 0.9954 0.9998 0.9756 0.9167 0.9952 0.9967 1 1 0.9989 0.9929 hom 8408.27 248 1 204379617 . T C 8408.27 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.475;DP=248;DS;Dels=0.00;FS=4.081;HRun=0;HaplotypeScore=9.6072;MQ=59.76;MQ0=0;MQRankSum=1.243;QD=33.90;ReadPosRankSum=-0.056;VQSLOD=3.1040;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,247:248:99:8371,628,0 1 204396830 204396830 G A exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon32:c.C4533T:p.S1511S 0.14 0.28 0.1 0.077 0.11 0.061 0.1053 0.2612 0.1404 0.0790 0.1403 0.0887 0.1079 0.0491 0.14 0.26 0.086 0.22 0.066 rs17334387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1051 0.2670 0.1383 0.0858 0.0760 0.1425 0.0874 0.1055 0.0477 0.1535 0.2572 0.1360 0.0894 0.0868 0.1392 0.1068 0.1431 het 2951.60 222 1 204396830 . G A 2951.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.464;DP=222;Dels=0.00;FS=1.662;HRun=0;HaplotypeScore=6.3071;MQ=58.69;MQ0=0;MQRankSum=1.303;QD=13.30;ReadPosRankSum=0.589;VQSLOD=5.0456;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,122:222:99:2982,0,2343 1 204399061 204399061 A G exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon30:c.T4386C:p.P1462P 0.14 0.28 0.1 0.077 0.11 0.061 0.1054 0.2650 0.1394 0.0787 0.1397 0.0888 0.1067 0.0483 0.013 0.029 0.004 0.22 0.057 rs2271419 COSM3773464 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1044 0.2695 0.1376 0.0854 0.0758 0.1375 0.0873 0.1054 0.0471 0.1528 0.2556 0.1360 0.0894 0.0867 0.1400 0.1061 0.1436 het 1146.33 104 1 204399061 . A G 1146.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.458;DP=104;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=2.9607;MQ=59.01;MQ0=0;MQRankSum=-0.267;QD=11.02;ReadPosRankSum=2.142;VQSLOD=5.4002;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,49:104:99:1176,0,1561 1 204399064 204399064 G A exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon30:c.C4383T:p.P1461P 0.14 0.28 0.1 0.077 0.11 0.061 0.1055 0.2654 0.1398 0.0787 0.1397 0.0889 0.1067 0.0483 0.011 0.027 0.0038 0.22 0.057 rs2271420 COSM3750785 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1044 0.2696 0.1376 0.0857 0.0757 0.1376 0.0873 0.1056 0.0471 0.1528 0.2556 0.1360 0.0894 0.0865 0.1400 0.1061 0.1436 het 1191.97 104 1 204399064 . G A 1191.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.702;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=59.01;MQ0=0;MQRankSum=-0.658;QD=11.46;ReadPosRankSum=1.888;VQSLOD=5.2155;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,49:104:99:1222,0,1541 1 204403659 204403659 A G exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon25:c.T3594C:p.N1198N 0.41 0.53 0.27 0.51 0.26 0.38 0.3009 0.4888 0.2829 0.5213 0.3296 0.2290 0.3341 0.3572 0.31 0.48 0.22 0.42 0.19 rs3747636 COSM3750786 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2956 0.4926 0.2785 0.2061 0.5265 0.3254 0.2254 0.2738 0.3528 0.3431 0.4997 0.2685 0.1854 0.5248 0.3210 0.2464 0.3208 het 1103.42 94 1 204403659 . A G 1103.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.358;DP=94;Dels=0.00;FS=1.741;HRun=0;HaplotypeScore=0.8321;MQ=59.09;MQ0=0;MQRankSum=-0.737;QD=11.74;ReadPosRankSum=-2.076;VQSLOD=5.7505;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,46:94:99:1133,0,1284 1 204423811 204423811 G A exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon13:c.C2052T:p.I684I 0.022 0.0015 0.02 . 0.035 0.061 0.0308 0.0050 0.0245 0.0003 0.0568 0.0328 0.0341 0.0486 0.025 0.0068 0.034 0.022 0.025 rs61762608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0317 0.0052 0.0251 0.0426 0.0005 0.0513 0.0330 0.0316 0.0474 0.0286 0.0063 0.0227 0.0232 0.0012 0.0545 0.0380 0.0428 het 2271.27 210 1 204423811 . G A 2271.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.543;DP=210;Dels=0.00;FS=1.077;HRun=1;HaplotypeScore=4.4717;MQ=59.01;MQ0=0;MQRankSum=-0.526;QD=10.82;ReadPosRankSum=1.095;VQSLOD=5.3054;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:121,89:210:99:2301,0,3021 1 204438334 204438334 C T exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon3:c.G597A:p.P199P 0.73 0.24 0.89 0.82 0.98 0.91 0.8916 0.3455 0.8556 0.7845 0.9645 0.9825 0.9224 0.9182 0.78 0.37 0.98 0.61 0.94 rs1124777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9001 0.3388 0.8589 0.9606 0.7844 0.9653 0.9843 0.9287 0.9153 0.7878 0.3585 0.8413 0.9636 0.7540 0.9648 0.9841 0.9265 hom 7535.68 220 1 204438334 . C T 7535.68 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5686;MQ=59.37;MQ0=0;QD=34.25;VQSLOD=8.1284;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,219:220:99:7535,599,0 1 204438643 204438643 G T exonic PIK3C2B synonymous SNV PIK3C2B:NM_002646:exon3:c.C288A:p.L96L 0.73 0.24 0.9 0.82 0.98 0.91 0.8903 0.3432 0.8552 0.7835 0.9645 0.9825 0.9226 0.9148 0.78 0.37 0.98 0.61 0.97 rs1553921 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8984 0.3370 0.8581 0.9599 0.7843 0.9651 0.9838 0.9287 0.9139 0.7869 0.3551 0.8405 0.9636 0.7531 0.9645 0.9840 0.9264 hom 2278.92 71 1 204438643 . G T 2278.92 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6820;MQ=59.41;MQ0=0;QD=32.10;VQSLOD=9.4364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2312,196,0 1 204587240 204587240 G A exonic LRRN2 synonymous SNV LRRN2:NM_201630:exon2:c.C1881T:p.D627D,LRRN2:NM_006338:exon3:c.C1881T:p.D627D 0.29 0.032 0.5 0.34 0.43 0.32 0.4092 0.0886 0.5315 0.3044 0.5336 0.4585 0.4231 0.3329 0.33 0.096 0.45 0.22 0.3 rs3747632 COSM1748102 1(breast);2(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4194 0.0823 0.5184 0.4303 0.3037 0.5378 0.4547 0.4150 0.3292 0.3622 0.0913 0.4869 0.4172 0.3068 0.5384 0.4713 0.4489 het 574.15 41 1 204587240 . G A 574.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.195;DP=41;Dels=0.00;FS=1.243;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=1.056;QD=14.00;ReadPosRankSum=-1.448;VQSLOD=6.1023;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,21:41:99:604,0,594 1 204587918 204587918 C T exonic LRRN2 synonymous SNV LRRN2:NM_201630:exon2:c.G1203A:p.P401P,LRRN2:NM_006338:exon3:c.G1203A:p.P401P 0.0026 0.0008 0.0043 . 0.008 0.001 0.0068 0.0019 0.0021 0.0001 0.0117 0.0103 0.0045 0.0005 0.0093 0.0014 0.013 . . rs35322898 COSM5953252 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0066 0.0018 0.0021 0.0013 0.0002 0.0111 0.0109 0.0069 0.0005 0.0057 0.0015 0.0024 0 0 0.0097 0.0081 0.0051 het 1751.23 109 1 204587918 . C T 1751.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.396;DP=109;Dels=0.00;FS=1.683;HRun=0;HaplotypeScore=2.5787;MQ=59.27;MQ0=0;MQRankSum=-0.216;QD=16.07;ReadPosRankSum=0.015;VQSLOD=5.6806;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,59:109:99:1781,0,1336 1 204943947 204943947 C A exonic NFASC synonymous SNV NFASC:NM_001160331:exon12:c.C1587A:p.V529V,NFASC:NM_001160333:exon13:c.C1536A:p.V512V,NFASC:NM_001005388:exon14:c.C1554A:p.V518V,NFASC:NM_001005389:exon14:c.C1554A:p.V518V,NFASC:NM_001160332:exon14:c.C1587A:p.V529V,NFASC:NM_015090:exon14:c.C1587A:p.V529V 0.47 0.2 0.54 0.67 0.41 0.63 0.4538 0.2109 0.6170 0.6795 0.5089 0.3974 0.4868 0.5787 0.33 0.22 0.39 0.4 0.33 rs2246662 COSM3750792;COSM3750790;COSM3750794;COSM3750793;COSM3750791 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4651 0.2068 0.5992 0.4356 0.6757 0.5058 0.3923 0.4426 0.5772 0.3741 0.2092 0.5875 0.4305 0.6557 0.5057 0.3916 0.4366 het 2553.72 178 1 204943947 . C A 2553.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.027;DP=178;DS;Dels=0.00;FS=11.534;HRun=3;HaplotypeScore=8.9206;MQ=59.08;MQ0=0;MQRankSum=0.307;QD=14.35;ReadPosRankSum=0.459;VQSLOD=3.5598;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,91:178:99:2584,0,2228 1 204970302 204970302 T C exonic NFASC synonymous SNV NFASC:NM_001005388:exon26:c.T3024C:p.P1008P 0.23 0.16 0.18 0.24 0.26 0.33 0.3078 0.2297 0.2831 0.2989 0.3140 0.3115 0.2914 0.3490 0.23 0.18 0.25 0.18 . rs4951151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2410 0.1689 0.1960 0.2178 0.2228 0.2535 0.2498 0.2358 0.3035 0.2352 0.1841 0.1842 0.2252 0.2509 0.2520 0.2605 0.2643 het 560.99 51 1 204970302 . T C 560.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.029;DP=51;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9983;MQ=59.27;MQ0=0;MQRankSum=2.199;QD=11.00;ReadPosRankSum=-1.425;VQSLOD=5.8151;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,24:51:99:591,0,781 1 205027737 205027737 G A exonic CNTN2 nonsynonymous SNV CNTN2:NM_001346083:exon5:c.G433A:p.A145T,CNTN2:NM_005076:exon5:c.G433A:p.A145T 0.29 0.14 0.28 0.48 0.15 0.47 0.2372 0.1447 0.3242 0.4774 0.2152 0.1627 0.2433 0.4178 0.15 0.15 0.16 0.23 0.09 rs2275697 COSM3746743 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.144 0.252 T 0.0 0.026 B 0.002 0.112 B 0.024 0.264 N 1 0.090 P 1.94 0.524 M -1.15 0.780 T -0.03 0.075 N 0.013 0.002 -1.002 0.293 T 0.000 0.000 T . . . 1.702 0.266 14.42 0.980 0.373 0.194 0.205 N c -0.543 -0.472 0.003 0.099 0.581 0.326 0 2.46 0.289 2.299 0.430 0.231 0.259 0.557 0.272 0.978 0.483 8.859 0.342 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.2395 0.1448 0.3139 0.1950 0.4738 0.2126 0.1572 0.2118 0.4114 0.1792 0.1360 0.2710 0.2053 0.4764 0.2062 0.1578 0.2162 het 783.78 67 1 205027737 . G A 783.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.959;DP=67;Dels=0.00;FS=3.399;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.623;QD=11.70;ReadPosRankSum=0.366;VQSLOD=5.7837;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:814,0,876 1 205031116 205031116 C T exonic CNTN2 nonsynonymous SNV CNTN2:NM_001346083:exon9:c.C1097T:p.P366L,CNTN2:NM_005076:exon9:c.C1097T:p.P366L 0.55 0.32 0.56 0.88 0.34 0.74 0.4754 0.3442 0.6292 0.8797 0.3891 0.3622 0.4527 0.6963 0.34 0.34 0.34 0.42 0.27 rs2229866 COSM3750795 1(breast);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.052 0.390 T 0.029 0.185 B 0.023 0.188 B 0.000 0.523 D 0.000 0.588 P 0.695 0.181 N -0.3 0.679 T -4.86 0.812 D 0.176 0.272 -0.957 0.397 T 0.000 0.000 T . . . 3.961 0.533 23.6 0.997 0.815 0.967 0.702 D c 0.101 0.238 1.000 0.747 0.495 0.175 0 4.94 0.645 4.731 0.615 0.935 0.490 1.000 0.715 1.000 0.888 17.744 0.883 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000133059.12|ENSG00000133059.12|ENSG00000184144.5 Artery_Tibial|Brain_Hippocampus|Skin_Not_Sun_Exposed_Suprapubic 0.4676 0.3307 0.6041 0.3965 0.8809 0.3804 0.3436 0.4155 0.6890 0.3733 0.3192 0.5680 0.3667 0.8766 0.3746 0.3369 0.4104 het 573.40 46 1 205031116 . C T 573.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.676;DP=46;Dels=0.00;FS=2.329;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.882;QD=12.47;ReadPosRankSum=0.309;VQSLOD=6.0888;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,21:46:99:603,0,803 1 205034348 205034348 C T exonic CNTN2 synonymous SNV CNTN2:NM_001346083:exon13:c.C1653T:p.I551I,CNTN2:NM_005076:exon13:c.C1653T:p.I551I . . . . . . 9.061e-05 0 0 0 0 0.0002 0 0 0.0001 . 0.0001 . . rs147493920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.934e-05 0 0 0 0 0 0.0002 0.0002 0 0.0001 0 0 0 0 0.0003 0.0002 0 het 2798.84 240 1 205034348 . C T 2798.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.286;DP=240;DS;Dels=0.00;FS=1.609;HRun=1;HaplotypeScore=5.2781;MQ=59.00;MQ0=0;MQRankSum=0.769;QD=11.66;ReadPosRankSum=1.290;VQSLOD=3.6482;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:131,109:240:99:2829,0,3326 1 205052939 205052939 G A exonic TMEM81 synonymous SNV TMEM81:NM_203376:exon1:c.C510T:p.L170L 0.8 0.5 0.87 0.98 0.84 0.92 0.8548 0.5549 0.9220 0.9711 0.8857 0.8593 0.8315 0.9062 0.76 0.56 0.86 0.65 0.84 rs4950979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8620 0.5477 0.9138 0.8462 0.9732 0.8841 0.8584 0.8529 0.9030 0.7801 0.5559 0.8624 0.8567 0.9685 0.8814 0.8558 0.8493 hom 3952.36 120 1 205052939 . G A 3952.36 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3990;MQ=59.65;MQ0=0;QD=32.94;VQSLOD=9.3432;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3952,313,0 1 205053219 205053219 C T exonic TMEM81 nonsynonymous SNV TMEM81:NM_203376:exon1:c.G230A:p.R77Q 0.82 0.55 0.89 0.98 0.85 0.93 0.8644 0.5934 0.9304 0.9711 0.8923 0.8674 0.8458 0.9104 0.78 0.6 0.86 0.69 0.85 rs4951168 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.343 N 1.000 0.186 P -1.87 0.003 N 1.45 0.325 T 0.31 0.040 N 0.032 0.015 -0.964 0.385 T 0.000 0.000 T . . . 2.606 0.374 20.2 0.753 0.107 0.063 0.122 N c -1.004 -0.753 0.366 0.198 0.706 0.609 0 5.5 0.813 0.254 0.179 0.154 0.240 0.094 0.225 0.972 0.466 6.989 0.238 . ENSG00000184144.5|ENSG00000174529.6|ENSG00000184144.5 Esophagus_Muscularis|Muscle_Skeletal|Thyroid 0.8714 0.5882 0.9236 0.8647 0.9732 0.8919 0.8654 0.8688 0.9082 0.7961 0.5946 0.8795 0.8709 0.9685 0.8898 0.8621 0.8605 hom 4896.04 141 1 205053219 . C T 4896.04 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8907;MQ=59.84;MQ0=0;QD=34.72;VQSLOD=8.8416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4896,382,0 1 205130413 205130413 A G exonic DSTYK nonsynonymous SNV DSTYK:NM_015375:exon7:c.T1921C:p.C641R,DSTYK:NM_199462:exon7:c.T1921C:p.C641R 0.96 0.99 0.94 1. 0.89 0.96 0.9317 0.9850 0.9681 1 0.9253 0.9050 0.9042 0.9485 0.93 0.98 0.9 0.99 0.87 rs3851294 . . Benign not_specified RCV000244891.1 MedGen CN169374 . . . . . . 0.569 0.145 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.138 0.810 P -1.39 0.006 N -0.95 0.762 T 2.21 0.003 N 0.099 0.101 -0.948 0.414 T 0.000 0.000 T . . . 2.397 0.349 18.80 0.550 0.051 0.343 0.248 N c -0.616 -0.334 0.971 0.292 0.651 0.465 0 5.27 0.737 4.273 0.585 0.076 0.183 1.000 0.715 0.998 0.697 7.453 0.263 . ENSG00000184144.5|ENSG00000225063.1 Skin_Sun_Exposed_Lower_leg|Testis 0.9314 0.9859 0.9637 0.9082 0.9999 0.9241 0.9037 0.9222 0.9458 0.9334 0.9837 0.9388 0.8974 1 0.9224 0.9013 0.9110 hom 5782.96 188 1 205130413 . A G 5782.96 Mask AC=2;AF=1.00;AN=2;DP=188;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6882;MQ=59.27;MQ0=0;QD=30.76;VQSLOD=9.1394;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,188:188:99:5782,463,0 1 205238275 205238275 A G exonic TMCC2 synonymous SNV TMCC2:NM_001297611:exon2:c.A270G:p.A90A,TMCC2:NM_001297613:exon2:c.A225G:p.A75A,TMCC2:NM_001331034:exon2:c.A360G:p.A120A,TMCC2:NM_001242925:exon3:c.A711G:p.A237A,TMCC2:NM_014858:exon3:c.A945G:p.A315A 0.15 0.1 0.19 0.052 0.35 0.074 0.2718 0.1358 0.1737 0.0463 0.4137 0.3666 0.2629 0.1057 0.28 0.15 0.35 0.22 0.31 rs1768586 COSM3997172;COSM3997173;COSM3997171 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2716 0.1332 0.1835 0.3052 0.0464 0.4039 0.3665 0.3021 0.1070 0.2832 0.1380 0.1787 0.3278 0.0425 0.4018 0.3691 0.3149 hom 3825.92 123 1 205238275 . A G 3825.92 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4865;MQ=59.80;MQ0=0;MQRankSum=0.268;QD=31.11;ReadPosRankSum=-0.465;VQSLOD=7.4971;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,122:123:99:3825,316,0 1 205238530 205238530 C T exonic TMCC2 synonymous SNV TMCC2:NM_001297611:exon2:c.C525T:p.G175G,TMCC2:NM_001297613:exon2:c.C480T:p.G160G,TMCC2:NM_001331034:exon2:c.C615T:p.G205G,TMCC2:NM_001242925:exon3:c.C966T:p.G322G,TMCC2:NM_014858:exon3:c.C1200T:p.G400G 0.13 0.029 0.18 0.038 0.35 0.073 0.2671 0.0673 0.1717 0.0418 0.4151 0.3691 0.2744 0.1042 0.26 0.075 0.35 0.16 0.24 rs1779411 COSM3750801;COSM3750802;COSM3750800 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2654 0.0623 0.1798 0.3072 0.0406 0.4042 0.3671 0.3015 0.1042 0.2626 0.0662 0.1782 0.3278 0.0377 0.4016 0.3695 0.3105 hom 1886.90 63 1 205238530 . C T 1886.90 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.41;MQ0=0;QD=29.95;VQSLOD=8.6775;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:63:99:1920,168,0 1 205240251 205240251 C T exonic TMCC2 synonymous SNV TMCC2:NM_001297611:exon3:c.C1011T:p.Y337Y,TMCC2:NM_001297613:exon3:c.C966T:p.Y322Y,TMCC2:NM_001331034:exon3:c.C1101T:p.Y367Y,TMCC2:NM_001242925:exon4:c.C1452T:p.Y484Y,TMCC2:NM_014858:exon4:c.C1686T:p.Y562Y 0.16 0.15 0.19 0.052 0.35 0.074 0.2759 0.1770 0.1765 0.0463 0.4143 0.3669 0.2673 0.1060 0.3 0.19 0.36 0.23 0.3 rs1668867 COSM3750804;COSM3750803 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2746 0.1759 0.1861 0.3054 0.0464 0.4034 0.3667 0.3043 0.1072 0.2958 0.1811 0.1802 0.3278 0.0426 0.4018 0.3697 0.3163 hom 2044.47 63 1 205240251 . C T 2044.47 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7845;MQ=58.94;MQ0=0;QD=32.45;VQSLOD=9.6720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2077,172,0 1 205272926 205272926 C T exonic NUAK2 synonymous SNV NUAK2:NM_030952:exon7:c.G1671A:p.L557L 0.32 0.14 0.41 0.46 0.3 0.39 0.3383 0.1581 0.4631 0.4829 0.3328 0.3075 0.3293 0.4333 0.25 0.16 0.3 0.32 0.32 rs1106201 COSM3750806;COSM3750805 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3393 0.1503 0.4512 0.2639 0.4755 0.3349 0.3042 0.3101 0.3963 0.2745 0.1467 0.4222 0.2748 0.4529 0.3381 0.3045 0.3078 het 1239.66 85 1 205272926 . C T 1239.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.647;DP=85;Dels=0.00;FS=1.771;HRun=0;HaplotypeScore=2.9973;MQ=58.84;MQ0=0;MQRankSum=1.737;QD=14.58;ReadPosRankSum=0.544;VQSLOD=5.9935;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,47:85:99:1270,0,1137 1 205272983 205272983 C G exonic NUAK2 synonymous SNV NUAK2:NM_030952:exon7:c.G1614C:p.L538L 0.32 0.14 0.41 0.46 0.3 0.39 0.3353 0.1558 0.4617 0.4816 0.3336 0.3039 0.3164 0.4134 0.25 0.16 0.3 0.32 0.32 rs1106202 COSM1178401;COSM1178402 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3374 0.1504 0.4478 0.2609 0.4752 0.3355 0.3014 0.3109 0.3939 0.2731 0.1458 0.4222 0.2715 0.4535 0.3388 0.3021 0.3067 het 1160.14 88 1 205272983 . C G 1160.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.333;DP=88;Dels=0.00;FS=2.908;HRun=1;HaplotypeScore=4.7723;MQ=59.58;MQ0=0;MQRankSum=-0.298;QD=13.18;ReadPosRankSum=1.784;VQSLOD=4.6662;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,42:88:99:1190,0,1165 1 205275421 205275421 A G exonic NUAK2 synonymous SNV NUAK2:NM_030952:exon5:c.T717C:p.G239G 0.98 0.93 0.99 1. 1. 1. 0.9938 0.9410 0.9946 1 1 0.9991 0.9901 0.9998 0.98 0.94 1. 0.98 0.99 rs4951197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9949 0.9408 0.9943 0.9978 1 1 0.9990 0.9954 0.9998 0.9818 0.9383 0.9893 0.9967 1 1 0.9991 0.9969 hom 5282.03 177 1 205275421 . A G 5282.03 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3914;MQ=59.20;MQ0=0;QD=29.84;VQSLOD=7.5756;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5281,397,0 1 205306590 205306590 G A exonic KLHDC8A synonymous SNV KLHDC8A:NM_018203:exon6:c.C990T:p.A330A,KLHDC8A:NM_001271864:exon7:c.C990T:p.A330A,KLHDC8A:NM_001271865:exon8:c.C990T:p.A330A,KLHDC8A:NM_001271863:exon9:c.C990T:p.A330A 0.18 0.022 0.17 0.34 0.21 0.2 0.1845 0.0445 0.1774 0.3330 0.1929 0.1862 0.1927 0.1897 0.14 0.046 0.19 0.14 0.16 rs3210952 COSM3750807 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1872 0.0415 0.1675 0.1659 0.3275 0.1954 0.1906 0.1921 0.1905 0.1559 0.0443 0.1492 0.1623 0.3298 0.1959 0.1920 0.1721 het 2306.93 197 1 205306590 . G A 2306.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.218;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6653;MQ=59.16;MQ0=0;MQRankSum=0.106;QD=11.71;ReadPosRankSum=-0.708;VQSLOD=6.0062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,89:197:99:2337,0,2852 1 205308335 205308335 G A exonic KLHDC8A synonymous SNV KLHDC8A:NM_018203:exon4:c.C744T:p.F248F,KLHDC8A:NM_001271864:exon5:c.C744T:p.F248F,KLHDC8A:NM_001271865:exon6:c.C744T:p.F248F,KLHDC8A:NM_001271863:exon7:c.C744T:p.F248F 0.18 0.22 0.14 0.032 0.29 0.2 0.2516 0.2236 0.1136 0.0302 0.3056 0.3070 0.2376 0.2373 0.28 0.22 0.3 0.21 0.21 rs1105385 COSM3750808 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2460 0.2211 0.1310 0.2777 0.0337 0.3025 0.3062 0.2620 0.2318 0.2561 0.2156 0.1495 0.2833 0.0390 0.3022 0.2965 0.2765 het 1535.98 91 1 205308335 . G A 1535.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.436;DP=91;Dels=0.00;FS=0.882;HRun=2;HaplotypeScore=1.7172;MQ=59.49;MQ0=0;MQRankSum=-0.653;QD=16.88;ReadPosRankSum=-0.264;VQSLOD=6.2809;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,55:91:99:1566,0,907 1 205308368 205308368 C T exonic KLHDC8A synonymous SNV KLHDC8A:NM_018203:exon4:c.G711A:p.R237R,KLHDC8A:NM_001271864:exon5:c.G711A:p.R237R,KLHDC8A:NM_001271865:exon6:c.G711A:p.R237R,KLHDC8A:NM_001271863:exon7:c.G711A:p.R237R 0.18 0.22 0.13 0.031 0.28 0.2 0.2448 0.2197 0.1107 0.0297 0.2866 0.2985 0.2305 0.2340 0.27 0.22 0.3 0.21 0.21 rs1105387 COSM3750809 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2406 0.2206 0.1282 0.2757 0.0336 0.2871 0.2992 0.2568 0.2295 0.2512 0.2147 0.1459 0.2881 0.0388 0.2903 0.2904 0.2673 het 1650.58 105 1 205308368 . C T 1650.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.988;DP=105;Dels=0.00;FS=5.027;HRun=0;HaplotypeScore=0.8667;MQ=59.78;MQ0=0;MQRankSum=-0.801;QD=15.72;ReadPosRankSum=1.122;VQSLOD=4.9436;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,63:105:99:1681,0,1191 1 205554095 205554095 A C exonic MFSD4A synonymous SNV MFSD4A:NM_181644:exon5:c.A951C:p.V317V 0.36 0.55 0.4 0.062 0.45 0.29 0.4204 0.5235 0.4009 0.0344 0.5210 0.4702 0.4305 0.3291 0.49 0.52 0.48 0.46 0.41 rs7515820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4191 0.5224 0.4034 0.4058 0.0359 0.5201 0.4722 0.4482 0.3330 0.4727 0.5187 0.4269 0.4238 0.0451 0.5279 0.4838 0.4620 het 1478.56 147 1 205554095 . A C 1478.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.116;DP=147;DS;Dels=0.00;FS=1.738;HRun=1;HaplotypeScore=2.3883;MQ=59.59;MQ0=0;MQRankSum=-1.403;QD=10.06;ReadPosRankSum=-1.191;VQSLOD=5.6739;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,59:147:99:1509,0,2249 1 205589574 205589574 C T exonic ELK4 synonymous SNV ELK4:NM_001973:exon3:c.G600A:p.P200P,ELK4:NM_021795:exon3:c.G600A:p.P200P 0.2 0.15 0.12 0.37 0.071 0.27 0.1306 0.1286 0.1524 0.3451 0.1142 0.0828 0.1222 0.2047 0.1 0.13 0.091 0.12 0.14 rs1064406 COSM3997176;COSM3997177 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1318 0.1346 0.1461 0.1029 0.3462 0.1080 0.0826 0.1233 0.2012 0.1183 0.1344 0.1599 0.1026 0.3228 0.1097 0.0872 0.1143 het 440.84 71 1 205589574 . C T 440.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.154;DP=71;Dels=0.00;FS=2.343;HRun=0;HaplotypeScore=0.7887;MQ=59.08;MQ0=0;MQRankSum=0.530;QD=6.21;ReadPosRankSum=-0.761;VQSLOD=5.0991;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,20:71:99:471,0,1355 1 205767885 205767885 G A exonic SLC41A1 synonymous SNV SLC41A1:NM_173854:exon6:c.C756T:p.N252N 0.14 0.023 0.23 0.003 0.4 0.12 0.2953 0.0700 0.1666 0.0006 0.4399 0.4122 0.3396 0.1494 0.3 0.084 0.41 0.16 0.39 rs708727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2982 0.0638 0.1805 0.3717 0.0008 0.4431 0.4140 0.3321 0.1546 0.2917 0.0757 0.2136 0.3543 0.0031 0.4374 0.4129 0.3704 het 1830.42 136 1 205767885 . G A 1830.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.752;DP=136;Dels=0.00;FS=1.410;HRun=0;HaplotypeScore=1.9053;MQ=59.66;MQ0=0;MQRankSum=2.126;QD=13.46;ReadPosRankSum=1.652;VQSLOD=5.6527;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,68:136:99:1860,0,1741 1 205779231 205779231 G A exonic SLC41A1 synonymous SNV SLC41A1:NM_173854:exon2:c.C339T:p.T113T 0.28 0.017 0.19 0.52 0.29 0.43 0.2949 0.0535 0.1891 0.5700 0.2945 0.2945 0.3060 0.3779 0.21 0.064 0.29 0.17 0.25 rs11240569 COSM146744 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2926 0.0506 0.1939 0.3005 0.5774 0.2828 0.2912 0.2876 0.3715 0.2403 0.0565 0.2261 0.2517 0.5613 0.2868 0.2994 0.2892 het 1879.05 121 1 205779231 . G A 1879.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.463;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5226;MQ=59.81;MQ0=0;MQRankSum=-0.238;QD=15.53;ReadPosRankSum=-0.165;VQSLOD=6.4087;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,69:121:99:1909,0,1350 1 205801872 205801872 A G exonic PM20D1 nonsynonymous SNV PM20D1:NM_152491:exon11:c.T1139C:p.I380T 0.28 0.35 0.31 0.013 0.52 0.2 0.4147 0.3998 0.2269 0.0023 0.5502 0.5257 0.4473 0.2491 0.48 0.4 0.52 0.33 0.54 rs1361754 COSM3746746 1(breast);1(liver) . . . . . . . . . . . 0.596 0.057 T 0.016 0.161 B 0.015 0.162 B 0.001 0.408 N 1.000 0.090 P 0.93 0.236 L 0.27 0.592 T -0.3 0.119 N 0.118 0.130 -0.908 0.471 T 0.000 0.000 T . . . -1.075 0.029 0.011 0.497 0.042 0.191 0.203 N c -1.055 -0.990 0.937 0.272 0.598 0.340 0 -0.108 0.129 0.693 0.250 -0.203 0.101 0.359 0.256 0.303 0.238 7.487 0.264 Peptidase M20\x2c dimerisation domain ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000133065.6|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000069275.12|ENSG00000117280.8|ENSG00000162877.8|ENSG00000117280.8|ENSG00000162877.8|ENSG00000069275.12|ENSG00000133065.6|ENSG00000162877.8|ENSG00000162877.8|ENSG00000133065.6|ENSG00000162877.8|ENSG00000069275.12|ENSG00000162877.8|ENSG00000069275.12|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000069275.12|ENSG00000162877.8|ENSG00000069275.12|ENSG00000117280.8|ENSG00000133065.6|ENSG00000162877.8|ENSG00000117280.8|ENSG00000133065.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4084 0.3995 0.2484 0.4733 0.0025 0.5608 0.5291 0.4396 0.2350 0.4581 0.3982 0.2947 0.4636 0.0037 0.5555 0.5272 0.4774 het 1730.55 125 1 205801872 . A G 1730.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.169;DP=125;Dels=0.00;FS=3.436;HRun=0;HaplotypeScore=1.8656;MQ=59.70;MQ0=0;MQRankSum=0.625;QD=13.84;ReadPosRankSum=1.316;VQSLOD=6.0145;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,64:125:99:1761,0,1543 1 205814485 205814485 G A exonic PM20D1 nonsynonymous SNV PM20D1:NM_152491:exon3:c.C457T:p.R153W 0.25 0.19 0.25 0.26 0.25 0.33 0.2634 0.1933 0.2774 0.2591 0.2508 0.2570 0.2676 0.3303 0.23 0.2 0.25 0.22 0.2 rs1104899 COSM3997178 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.007 0.599 D 0.996 0.670 D 0.962 0.690 D 0.000 0.843 D 0.000 0.537 P 3.47 0.926 M 0.06 0.618 T -6.88 0.932 D 0.367 0.428 -1.022 0.231 T 0.000 0.000 T . . . 5.046 0.679 25.2 0.997 0.836 0.872 0.464 D c 0.328 0.195 0.497 0.209 0.497 0.185 0 3.96 0.449 2.719 0.467 -0.345 0.071 0.999 0.424 0.001 0.043 5.217 0.146 . ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8|ENSG00000162877.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Thyroid 0.2643 0.1915 0.2837 0.2529 0.2526 0.2387 0.2602 0.2686 0.3227 0.2394 0.1917 0.2697 0.2318 0.2410 0.2424 0.2642 0.2490 hom 6161.61 195 1 205814485 . G A 6161.61 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=58.56;MQ0=0;QD=31.60;VQSLOD=9.6553;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:195:99:6161,481,0 1 205814497 205814497 T C exonic PM20D1 nonsynonymous SNV PM20D1:NM_152491:exon3:c.A445G:p.I149V 0.84 0.87 0.84 0.74 0.93 0.79 0.8833 0.8812 0.7191 0.7406 0.9181 0.9446 0.9020 0.8114 0.93 0.88 0.95 0.87 0.95 rs1891460 . . . . . . . . . . . . . 0.244 0.174 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -0.77 0.017 N 3.21 0.071 T -0.32 0.123 N 0.037 0.017 -1.026 0.219 T 0.000 0.000 T . . . -0.217 0.075 1.013 0.853 0.153 0.843 0.431 D c -1.014 -0.782 0.770 0.236 0.497 0.185 0 3.65 0.408 4.724 0.614 -0.148 0.109 1.000 0.715 0.001 0.043 9.016 0.351 . . . 0.8794 0.8818 0.7464 0.9512 0.7419 0.9125 0.9452 0.8930 0.8120 0.9053 0.8864 0.7780 0.9470 0.7435 0.9096 0.9390 0.9063 hom 5707.44 197 1 205814497 . T C 5707.44 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6281;MQ=58.38;MQ0=0;QD=28.97;VQSLOD=8.5145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:5706,469,0 1 206327510 206327510 T C exonic CTSE synonymous SNV CTSE:NM_001317331:exon5:c.T474C:p.F158F,CTSE:NM_001910:exon6:c.T699C:p.F233F,CTSE:NM_148964:exon6:c.T699C:p.F233F . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 0.167 -0.147 0.433 0.204 0.578 0.323 0 -6.62 0.016 -1.662 0.021 -1.487 0.010 0.000 0.063 0.967 0.454 14.689 0.685 Aspartic peptidase domain|Peptidase family A1 domain . . . . . . . . . . . . . . . . . . . het 2940.05 249 1 206327510 . T C 2940.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.864;DP=249;DS;Dels=0.00;FS=3.538;HRun=0;HaplotypeScore=2.8393;MQ=59.37;MQ0=0;MQRankSum=0.747;QD=11.81;ReadPosRankSum=-1.349;VQSLOD=5.7043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,115:249:99:2970,0,3681 1 206328803 206328803 T C exonic CTSE synonymous SNV CTSE:NM_001910:exon7:c.T870C:p.P290P 0.18 0.39 0.17 0.017 0.21 0.063 0.1743 0.3870 0.1154 0.0075 0.2126 0.1908 0.1711 0.0868 0.25 0.39 0.19 0.24 0.16 rs41302235 COSM3750824 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1710 0.3901 0.1241 0.2349 0.0074 0.2131 0.1886 0.2006 0.0848 0.2333 0.3755 0.1527 0.2318 0.0031 0.2271 0.1846 0.1871 het 1156.38 83 1 206328803 . T C 1156.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.077;DP=83;Dels=0.00;FS=1.893;HRun=3;HaplotypeScore=0.8941;MQ=59.16;MQ0=0;MQRankSum=1.061;QD=13.93;ReadPosRankSum=-1.079;VQSLOD=6.1730;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,41:83:99:1186,0,1283 1 206603535 206603535 G A exonic SRGAP2 unknown UNKNOWN 0.53 0.42 0.56 0.7 0.43 0.55 0.4929 0.4179 0.5226 0.7109 0.5219 0.4618 0.4432 0.5199 0.44 0.4 0.45 0.35 . rs2297539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4943 0.4172 0.5169 0.4478 0.7175 0.5192 0.4575 0.4741 0.5164 0.4632 0.4151 0.4880 0.4073 0.7033 0.5269 0.4489 0.4826 het 2583.79 250 1 206603535 . G A 2583.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.670;DP=250;DS;Dels=0.00;FS=1.550;HRun=0;HaplotypeScore=5.6061;MQ=58.81;MQ0=0;MQRankSum=1.214;QD=10.34;ReadPosRankSum=-0.661;VQSLOD=5.1585;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:144,106:250:99:2614,0,3900 1 206626607 206626607 G A exonic SRGAP2 unknown UNKNOWN 0.35 0.2 0.39 0.27 0.53 0.39 0.5230 0.3078 0.5389 0.3447 0.5 0.5731 0.5483 0.5056 0.43 0.25 0.51 0.38 . rs11120575 COSM4143276 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4560 0.2359 0.4498 0.4914 0.2433 0.4387 0.5203 0.4824 0.4317 0.4180 0.2429 0.4593 0.5331 0.2612 0.4376 0.5243 0.4684 het 224.43 26 1 206626607 . G A 224.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.028;DP=26;Dels=0.00;FS=1.760;HRun=0;HaplotypeScore=0.8667;MQ=59.11;MQ0=0;MQRankSum=1.080;QD=8.63;ReadPosRankSum=-0.237;VQSLOD=6.4254;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,10:26:99:254,0,466 1 206634429 206634429 A G exonic SRGAP2 unknown UNKNOWN 0.21 0.25 0.17 0.068 0.24 0.3 0.2363 0.2425 0.1615 0.0739 0.2816 0.2448 0.2446 0.3322 0.25 0.22 0.26 0.12 . rs17018890 COSM3997180 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2266 0.2380 0.1619 0.1356 0.0713 0.2812 0.2494 0.2097 0.2847 0.2419 0.2355 0.1758 0.12 0.0617 0.2919 0.2587 0.2566 het 818.41 100 1 206634429 . A G 818.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.122;DP=100;Dels=0.00;FS=2.829;HRun=1;HaplotypeScore=0.9469;MQ=58.96;MQ0=0;MQRankSum=0.376;QD=8.18;ReadPosRankSum=1.460;VQSLOD=5.5115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,35:100:99:848,0,1697 1 206647742 206647742 A G exonic IKBKE synonymous SNV IKBKE:NM_001193322:exon4:c.A156G:p.Q52Q,IKBKE:NM_014002:exon4:c.A156G:p.Q52Q 1. 1. 1. 1. 1. 1. 0.9986 0.9995 0.9991 1 0.9992 0.9980 1 0.9992 1. 1. 1. 1. 0.95 rs1539242 COSM4143277 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9997 0.9989 0.9998 1 0.9995 0.9976 0.9985 0.9993 0.9985 0.9998 0.9988 1 1 0.9991 0.9974 0.9980 hom 3461.02 102 1 206647742 . A G 3461.02 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8311;MQ=59.73;MQ0=0;QD=33.93;VQSLOD=8.4838;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3461,268,0 1 206647787 206647787 T C exonic IKBKE synonymous SNV IKBKE:NM_001193322:exon4:c.T201C:p.I67I,IKBKE:NM_014002:exon4:c.T201C:p.I67I 0.9 0.88 0.92 0.97 0.83 0.9 0.8591 0.8753 0.9334 0.9764 0.8358 0.8275 0.8673 0.8714 0.85 0.87 0.83 0.94 0.75 rs1539243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8610 0.8719 0.9297 0.7766 0.9768 0.8298 0.8328 0.8468 0.8701 0.8525 0.8711 0.9129 0.7947 0.9846 0.8333 0.8311 0.8299 het 1051.79 64 1 206647787 . T C 1051.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.058;DP=64;Dels=0.00;FS=2.473;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=-0.140;QD=16.43;ReadPosRankSum=-1.385;VQSLOD=5.9517;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,41:64:99:1082,0,612 1 206773659 206773659 A G exonic EIF2D synonymous SNV EIF2D:NM_001201478:exon6:c.T534C:p.P178P,EIF2D:NM_006893:exon8:c.T906C:p.P302P 1. 1. 1. 1. 1. 1. 1.0000 0.9997 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs6662929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9994 1.0000 1 1 1 1.0000 0.9996 1 0.9998 0.9992 1 1 1 1 1 1 hom 4159.40 140 1 206773659 . A G 4159.40 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7470;MQ=58.70;MQ0=0;QD=29.71;VQSLOD=8.2729;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4158,334,0 1 206905040 206905040 C T exonic MAPKAPK2 synonymous SNV MAPKAPK2:NM_004759:exon8:c.C948T:p.I316I,MAPKAPK2:NM_032960:exon8:c.C948T:p.I316I 0.041 0.12 0.029 . 0.015 0.0041 0.0206 0.1223 0.0171 0.0001 0.0056 0.0133 0.0242 0.0054 0.048 0.12 0.013 0.033 0.016 rs34526867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0194 0.1233 0.0177 0.0572 0 0.0062 0.0117 0.0221 0.0051 0.0414 0.1217 0.0155 0.0629 0 0.0049 0.0103 0.0183 het 2657.90 238 1 206905040 . C T 2657.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.094;DP=238;DS;Dels=0.00;FS=5.365;HRun=1;HaplotypeScore=7.3512;MQ=58.71;MQ0=0;MQRankSum=-1.323;QD=11.17;ReadPosRankSum=-1.311;VQSLOD=2.9537;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,113:238:99:2688,0,3189 1 207074905 207074905 T C exonic IL24 nonsynonymous SNV IL24:NM_001185156:exon5:c.T373C:p.Y125H,IL24:NM_006850:exon5:c.T370C:p.Y124H 0.32 0.29 0.44 0.21 0.45 0.23 0.3976 0.2920 0.4600 0.2157 0.3781 0.4650 0.4249 0.2498 0.41 0.3 0.47 0.37 0.42 rs1150258 . . . . . . . . . . . . . 0.098 0.912 T 1.0 0.899 D 0.999 0.916 D 0.000 0.477 D 0.726 0.588 P 2.19 0.618 M 2.25 0.178 T -2.54 0.550 D 0.211 0.276 -0.915 0.463 T 0.000 0.000 T . . . 4.227 0.566 23.9 0.998 0.864 0.331 0.245 N c 0.148 0.010 1.000 0.747 0.497 0.185 0 2.38 0.283 1.074 0.301 1.061 0.807 0.640 0.278 0.895 0.377 3.697 0.078 Four-helical cytokine\x2c core|Four-helical cytokine-like\x2c core ENSG00000271680.1 Cells_EBV-transformed_lymphocytes 0.4022 0.2842 0.4623 0.4838 0.2122 0.3806 0.4673 0.4302 0.2501 0.3943 0.2887 0.4378 0.4868 0.2333 0.4012 0.4654 0.4242 het 1169.37 111 1 207074905 . T C 1169.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.445;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9905;MQ=59.46;MQ0=0;MQRankSum=-0.218;QD=10.53;ReadPosRankSum=0.398;VQSLOD=6.0865;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,46:111:99:1199,0,1741 1 207087435 207087435 C T exonic FCMR synonymous SNV FCMR:NM_001193338:exon2:c.G42A:p.S14S,FCMR:NM_005449:exon2:c.G42A:p.S14S 0.24 0.17 0.31 0.13 0.45 0.2 0.3624 0.1967 0.2820 0.1456 0.3813 0.4608 0.4053 0.2276 0.38 0.2 0.47 0.27 0.39 rs167082 COSM5425720;COSM5425719 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3623 0.1882 0.2911 0.4703 0.1420 0.3839 0.4633 0.3955 0.2283 0.3586 0.1953 0.3181 0.4669 0.1623 0.4036 0.4609 0.4110 het 1369.38 100 1 207087435 . C T 1369.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.247;DP=100;Dels=0.00;FS=2.415;HRun=0;HaplotypeScore=0.6651;MQ=59.31;MQ0=0;MQRankSum=0.407;QD=13.69;ReadPosRankSum=1.041;VQSLOD=6.3553;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,49:100:99:1399,0,1315 1 207109116 207109116 C T exonic PIGR nonsynonymous SNV PIGR:NM_002644:exon5:c.G1093A:p.G365S 0.3 0.19 0.33 0.33 0.46 0.21 0.3833 0.2253 0.2946 0.3190 0.4060 0.4590 0.4268 0.2547 0.38 0.22 0.46 0.35 0.38 rs2275531 COSM425158 1(thyroid) . . . . . . . . . . . 0.12 0.279 T 1.0 0.899 D 1.0 0.971 D 0.001 0.420 N 0.357 0.329 P 1.725 0.447 L 3.66 0.043 T -3.38 0.667 D 0.07 0.058 -0.911 0.467 T 0.000 0.000 T . . . 4.002 0.538 23.6 0.997 0.804 0.464 0.275 N c 0.213 0.127 1.000 0.747 0.422 0.057 0 4.64 0.572 0.462 0.215 0.065 0.171 0.674 0.281 0.677 0.304 8.687 0.332 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000271680.1 Cells_EBV-transformed_lymphocytes 0.3813 0.2087 0.3041 0.4716 0.3299 0.4080 0.4589 0.4141 0.2510 0.3767 0.2181 0.3230 0.4470 0.3643 0.4210 0.4586 0.4243 het 540.04 52 1 207109116 . C T 540.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.194;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9992;MQ=59.28;MQ0=0;MQRankSum=0.046;QD=10.39;ReadPosRankSum=-0.491;VQSLOD=6.5141;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:570,0,779 1 207110936 207110936 T C exonic PIGR synonymous SNV PIGR:NM_002644:exon4:c.A549G:p.V183V 0.55 0.93 0.51 0.45 0.47 0.26 0.4770 0.8625 0.5099 0.4369 0.3878 0.4712 0.4710 0.2895 0.6 0.85 0.47 0.67 0.43 rs291096 COSM5505118 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4705 0.8688 0.5134 0.5614 0.4375 0.3904 0.4657 0.4810 0.2885 0.5699 0.8568 0.4964 0.51 0.4710 0.4050 0.4637 0.4714 het 952.50 65 1 207110936 . T C 952.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.125;DP=65;Dels=0.00;FS=2.287;HRun=0;HaplotypeScore=1.8401;MQ=60.00;MQ0=0;MQRankSum=-0.599;QD=14.65;ReadPosRankSum=-0.717;VQSLOD=6.0126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,35:65:99:982,0,867 1 207140440 207140440 C T exonic FCAMR synonymous SNV FCAMR:NM_001170631:exon3:c.G126A:p.A42A,FCAMR:NM_032029:exon3:c.G126A:p.A42A,FCAMR:NM_001122979:exon4:c.G126A:p.A42A 0.24 0.38 0.17 0.32 0.17 0.081 0.1990 0.3396 0.1692 0.3176 0.2025 0.1874 0.1927 0.1195 0.23 0.33 0.19 0.35 0.2 rs11119933 COSM146750 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1941 0.3314 0.1681 0.1544 0.3266 0.2041 0.1863 0.1858 0.1160 0.2454 0.3367 0.1647 0.1159 0.3614 0.2162 0.1968 0.2023 het 141.23 34 1 207140440 . C T 141.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.576;DP=34;Dels=0.00;FS=4.152;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-0.511;QD=4.15;ReadPosRankSum=-0.639;VQSLOD=2.7624;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,7:34:99:171,0,716 1 207195779 207195779 A G exonic C1orf116 nonsynonymous SNV C1orf116:NM_001083924:exon3:c.T592C:p.S198P,C1orf116:NM_023938:exon4:c.T1330C:p.S444P 1. 1. 0.99 1. 0.99 0.99 0.9883 0.9979 0.9942 1 0.9680 0.9847 0.9813 0.9947 0.99 1. 0.98 0.99 0.96 rs2842726 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.066 0.219 N 1 0.090 P -1.28 0.007 N 3.33 0.062 T 3.04 0.001 N 0.012 0.001 -1.016 0.249 T 0.000 0.000 T . . . -1.843 0.010 0.002 0.669 0.079 0.003 0.016 N c -1.770 -1.650 1.000 0.517 0.615 0.372 0 -0.771 0.104 -0.083 0.112 -0.232 0.094 0.017 0.192 0.066 0.174 1.457 0.022 . . . 0.9885 0.9978 0.9943 0.9981 1 0.9691 0.9850 0.9898 0.9949 0.9882 0.9983 0.9940 0.9967 1 0.9780 0.9832 0.9857 hom 2549.69 76 1 207195779 . A G 2549.69 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.20;MQ0=0;QD=33.55;VQSLOD=10.0174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2583,202,0 1 207200875 207200875 - T exonic C1orf116 frameshift insertion C1orf116:NM_023938:exon2:c.68dupA:p.D23Efs*13 0.0032 . 0.0086 . 0.0099 . 0.0054 0.0012 0.0016 0 0.0073 0.0083 0.0044 0.0012 0.0062 0.0023 0.0082 . . rs201900436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0053 0.0012 0.0015 0.0012 0 0.0077 0.0089 0.0051 0.0013 0.0054 0.0016 0.0048 0.0033 0 0.0072 0.0077 0.0071 het 2597.13 129 1 207200875 . G GT 2597.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.612;DP=129;FS=0.667;HRun=1;HaplotypeScore=302.8926;MQ=58.24;MQ0=0;MQRankSum=-0.250;QD=20.13;ReadPosRankSum=-1.004;set=variant2 GT:AD:DP:GQ:PL 0/1:62,67:129:99:2636,0,1845 1 207297680 207297680 T C exonic C4BPA synonymous SNV C4BPA:NM_000715:exon6:c.T675C:p.G225G 0.86 0.92 0.86 0.76 0.83 0.9 0.8545 0.9090 0.9076 0.8103 0.8800 0.8344 0.8425 0.8777 0.86 0.91 0.83 0.83 0.83 rs1126618 . . Benign not_specified RCV000455756.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8556 0.9099 0.906 0.7695 0.8142 0.8815 0.8367 0.8409 0.8760 0.8638 0.9047 0.8842 0.7914 0.8205 0.8866 0.8419 0.8310 hom 3313.69 116 1 207297680 . T C 3313.69 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4725;MQ=59.28;MQ0=0;QD=28.57;VQSLOD=8.3227;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3313,271,0 1 207304900 207304900 T C exonic C4BPA nonsynonymous SNV C4BPA:NM_000715:exon8:c.T899C:p.I300T 0.49 0.84 0.46 0.27 0.38 0.38 0.4014 0.7658 0.4312 0.3002 0.4686 0.3546 0.4096 0.3613 0.48 0.75 0.35 0.56 0.3 rs4844573 COSM3997187 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454800.1 MedGen CN169374 . . . . . . 0.924 0.023 T 0.0 0.026 B 0.002 0.063 B 0.104 0.026 N 1 0.090 P -0.735 0.018 N 0.02 0.623 T 0.62 0.024 N 0.03 0.011 -0.960 0.392 T 0.000 0.000 T . . . -1.957 0.009 0.001 0.319 0.018 0.002 0.013 N c -1.889 -1.928 1.000 0.747 0.487 0.133 0 -8.9 0.007 -2.575 0.010 -0.318 0.077 0.000 0.063 0.046 0.161 16.213 0.819 Sushi/SCR/CCP domain . . 0.3925 0.7719 0.4289 0.3057 0.2929 0.4662 0.3501 0.3841 0.3475 0.4808 0.7635 0.4342 0.3079 0.2655 0.4545 0.3567 0.4037 hom 2074.87 63 1 207304900 . T C 2074.87 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.27;MQ0=0;QD=32.93;VQSLOD=10.0376;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2108,168,0 1 207646322 207646322 G A exonic CR2 synonymous SNV CR2:NM_001006658:exon10:c.G1776A:p.L592L,CR2:NM_001877:exon10:c.G1776A:p.L592L 0.4 0.76 0.27 0.2 0.35 0.27 0.3505 0.6981 0.2233 0.2167 0.3060 0.3561 0.3717 0.2836 0.47 0.69 0.36 0.47 0.31 rs1048971 COSM3746749 1(liver);1(thyroid);1(large_intestine);1(central_nervous_system) Benign not_specified RCV000454637.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3362 0.7057 0.2282 0.3000 0.2107 0.3110 0.3591 0.3353 0.2874 0.4253 0.6919 0.2344 0.31 0.1950 0.3041 0.3445 0.3014 hom 3172.52 104 1 207646322 . G A 3172.52 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=30.50;VQSLOD=8.9819;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3206,259,0 1 207646462 207646462 G A exonic CR2 nonsynonymous SNV CR2:NM_001006658:exon10:c.G1916A:p.S639N,CR2:NM_001877:exon10:c.G1916A:p.S639N 0.26 0.43 0.2 0.11 0.29 0.2 0.2704 0.3814 0.1613 0.1121 0.2333 0.3091 0.2775 0.2176 0.34 0.38 0.32 0.35 0.28 rs17615 COSM3750834 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign not_specified RCV000455065.1 MedGen CN169374 . . . . . . 0.251 0.295 T 1.0 0.899 D 0.995 0.832 D . . . 0.246 0.349 P 1.975 0.537 M -0.22 0.665 T -1.71 0.470 N 0.115 0.140 -0.966 0.380 T 0.000 0.000 T . . . 4.590 0.615 24.4 0.997 0.823 0.148 0.184 N c 0.384 0.335 0.361 0.198 0.707 0.730 0 4.8 0.610 0.364 0.199 0.953 0.551 0.001 0.137 0.995 0.604 11.288 0.483 Sushi/SCR/CCP domain . . 0.2609 0.3887 0.1611 0.2808 0.1113 0.2317 0.3118 0.2656 0.2197 0.2959 0.3793 0.1782 0.3013 0.0909 0.2265 0.2957 0.2434 hom 3813.33 129 1 207646462 . G A 3813.33 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=29.56;VQSLOD=8.1915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3813,295,0 1 207646898 207646898 T C exonic CR2 nonsynonymous SNV CR2:NM_001006658:exon11:c.T1987C:p.S663P 0.29 0.54 0.21 0.11 0.29 0.2 0.2810 0.4946 0.1676 0.1124 0.2306 0.3072 0.2819 0.2278 0.38 0.5 0.32 0.39 0.28 rs4308977 COSM3746750 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign not_specified RCV000455766.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . -0.02 0.629 T 1.65 0.006 N 0.024 0.007 -0.912 0.466 T 0.000 0.000 T . . . 0.636 0.155 8.401 0.287 0.015 0.001 0.005 N c -1.262 -1.164 0.021 0.134 0.563 0.310 0 1.19 0.200 -1.334 0.028 -0.082 0.119 0.000 0.063 0.533 0.276 7.633 0.273 Sushi/SCR/CCP domain . . 0.2698 0.5037 0.1683 0.2829 0.1117 0.2294 0.3104 0.2707 0.2306 0.3269 0.4905 0.1921 0.3046 0.0908 0.2245 0.2938 0.2536 hom 4422.33 134 1 207646898 . T C 4422.33 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8625;MQ=58.77;MQ0=1;QD=33.00;VQSLOD=9.4971;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4422,346,0 1 207646923 207646923 G A exonic CR2 nonsynonymous SNV CR2:NM_001006658:exon11:c.G2012A:p.R671H 0.26 0.42 0.2 0.11 0.29 0.2 0.2686 0.3809 0.1614 0.1122 0.2306 0.3061 0.2764 0.2176 0.34 0.38 0.31 0.35 0.27 rs17616 COSM3746751 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) Benign not_specified RCV000454598.1 MedGen CN169374 . . . . . . 0.191 0.210 T 0.992 0.629 D 0.674 0.514 P . . . 1 0.090 P . . . -0.12 0.646 T -0.61 0.181 N 0.033 0.013 -1.097 0.044 T 0.000 0.000 T . . . 2.590 0.372 20.1 0.986 0.425 0.002 0.011 N c -1.124 -1.365 0.997 0.355 0.563 0.310 0 -8.57 0.008 -2.147 0.014 -2.196 0.004 0.000 0.063 0.043 0.159 9.186 0.361 Sushi/SCR/CCP domain . . 0.2597 0.3881 0.1611 0.2807 0.1113 0.2292 0.3097 0.2643 0.2197 0.2941 0.3789 0.1782 0.3013 0.0920 0.2244 0.2924 0.2413 hom 5196.90 162 1 207646923 . G A 5196.90 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8865;MQ=58.84;MQ0=1;QD=32.08;VQSLOD=8.9873;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5196,415,0 1 207653395 207653395 C A exonic CR2 nonsynonymous SNV CR2:NM_001877:exon17:c.C3008A:p.A1003E,CR2:NM_001006658:exon18:c.C3185A:p.A1062E 0.94 1. 0.91 1. 0.84 0.94 0.8835 0.9768 0.9190 0.9999 0.8589 0.8401 0.8816 0.9243 0.88 0.98 0.83 0.95 0.84 rs17617 COSM3750836 1(large_intestine) Benign not_specified RCV000455342.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.228 P -0.895 0.014 N 1.59 0.307 T 1.39 0.009 N 0.082 0.075 -0.955 0.401 T 0.000 0.000 T . . . 0.554 0.147 7.834 0.270 0.013 0.006 0.027 N c -1.348 -1.212 0.038 0.144 0.706 0.609 0 -2.09 0.068 -0.173 0.098 -0.161 0.107 0.861 0.304 0.990 0.544 0.278 0.002 . . . 0.8812 0.9783 0.9167 0.8252 0.9997 0.8578 0.8381 0.8642 0.9218 0.8853 0.9727 0.9021 0.8411 0.9994 0.8585 0.8310 0.8418 hom 3344.82 110 1 207653395 . C A 3344.82 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=30.41;VQSLOD=9.2864;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3344,268,0 1 207679307 207679307 A G exonic CR1 synonymous SNV CR1:NM_000573:exon2:c.A180G:p.E60E,CR1:NM_000651:exon2:c.A180G:p.E60E 0.85 0.95 0.91 0.65 0.81 0.92 0.8217 0.9368 0.9096 0.6336 0.8010 0.7984 0.8073 0.8931 0.85 0.94 0.81 0.86 . rs4844600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8229 0.9419 0.9057 0.7983 0.6332 0.7961 0.8003 0.8129 0.8906 0.8297 0.9414 0.8771 0.8079 0.6363 0.7925 0.7946 0.7882 hom 5325.07 177 1 207679307 . A G 5325.07 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3496;MQ=46.48;MQ0=7;QD=29.92;VQSLOD=3.2756;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5324,427,0 1 207782916 207782916 A T exonic CR1 nonsynonymous SNV CR1:NM_000573:exon29:c.A4828T:p.T1610S,CR1:NM_000651:exon37:c.A6178T:p.T2060S 0.99 1. 0.99 1. 0.98 1. 0.9853 0.9958 0.9945 1 0.9855 0.9777 0.9832 0.9960 0.98 1. 0.97 1. . rs4844609 . . . . . . . . . . . . . 0.804 0.031 T 0.0 0.102 B 0.0 0.104 B . . . 1 0.090 P . . . -0.01 0.628 T 0.77 0.027 N 0.003 0.000 -0.947 0.415 T 0.000 0.000 T . . . -1.197 0.025 0.007 0.132 0.003 0.000 0.002 N c -1.298 -1.344 0.000 0.035 0.638 0.428 0 2.54 0.295 -0.871 0.043 0.102 0.200 0.000 0.063 0.001 0.043 4.924 0.131 Sushi/SCR/CCP domain . . 0.9854 0.9966 0.9929 0.9897 1 0.9863 0.9758 0.9844 0.9964 0.9855 0.9958 0.9916 1 1 0.9874 0.977 0.9847 hom 1092.64 37 1 207782916 . A T 1092.64 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=29.53;VQSLOD=8.1166;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:90.25:1126,90,0 1 207795320 207795320 A G exonic CR1 nonsynonymous SNV CR1:NM_000573:exon36:c.A5905G:p.T1969A,CR1:NM_000651:exon44:c.A7255G:p.T2419A 0.83 0.82 0.92 0.69 0.82 0.93 0.8159 0.8092 0.9082 0.6571 0.8056 0.8016 0.8242 0.9039 0.82 0.82 0.82 0.78 . rs2296160 . . . . . . . . . . . . . 0.987 0.020 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0.55 0.145 N 1.61 0.317 T 0.0 0.085 N 0.044 0.297 -1.013 0.259 T 0.000 0.000 T . . . -3.609 0.000 0.001 0.161 0.004 0.002 0.011 N c -2.910 -2.990 1.000 0.747 0.638 0.428 0 -8.25 0.009 -3.998 0.004 -3.670 0.001 0.000 0.063 0.000 0.016 0.423 0.004 . . . 0.8199 0.8074 0.9067 0.8100 0.6558 0.8031 0.8029 0.8218 0.9012 0.8002 0.8200 0.8957 0.8212 0.6621 0.8052 0.7979 0.7793 hom 809.12 27 1 207795320 . A G 809.12 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.97;VQSLOD=12.7038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:63.20:842,63,0 1 207851611 207851611 A G exonic CR1L nonsynonymous SNV CR1L:NM_175710:exon3:c.A346G:p.R116G 0.53 0.45 0.38 0.7 0.49 0.59 0.5171 0.455 0.4139 0.6917 0.4763 0.5146 0.5156 0.5614 0.51 0.48 0.52 0.49 . rs2296158 COSM3746755;COSM3746754 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(liver);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -3.12 0.000 N 0.43 0.568 T 7.44 0.000 N 0.057 0.040 -0.921 0.454 T 0.000 0.000 T . . . -0.784 0.041 0.046 0.136 0.003 0.002 0.013 N c -1.544 -1.337 0.996 0.345 0.638 0.428 0 2.73 0.311 2.068 0.409 -0.080 0.119 1.000 0.715 0.058 0.169 5.862 0.179 Sushi/SCR/CCP domain . . 0.5102 0.4497 0.4046 0.5239 0.6947 0.4726 0.5148 0.4954 0.5607 0.4937 0.4608 0.4031 0.5232 0.6986 0.4771 0.5005 0.4703 hom 4851.95 175 1 207851611 . A G 4851.95 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=58.62;MQ0=0;QD=27.73;VQSLOD=7.8714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:4851,370,0 1 207857254 207857254 A G exonic CR1L nonsynonymous SNV CR1L:NM_175710:exon4:c.A415G:p.I139V 0.16 0.019 0.065 0.36 0.11 0.27 0.1390 0.0320 0.0520 0.3797 0.1109 0.1168 0.1425 0.2385 0.088 0.035 0.11 0.15 . rs3085 COSM3750843;COSM3750844 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.207 0.198 T 0.005 0.119 B 0.066 0.260 B . . . 1 0.090 P 0.86 0.214 L 1.9 0.235 T -0.71 0.202 N 0.173 0.210 -0.900 0.481 T 0.000 0.000 T . . . -0.515 0.055 0.201 0.724 0.097 0.004 0.019 N c -1.237 -1.349 0.990 0.321 0.554 0.246 0 -3.99 0.038 -3.647 0.005 -1.467 0.011 0.000 0.063 0.001 0.043 5.644 0.167 Sushi/SCR/CCP domain ENSG00000197721.12 Whole_Blood 0.1342 0.0287 0.0522 0.1337 0.3816 0.1086 0.1128 0.1243 0.2363 0.1013 0.0308 0.0668 0.1325 0.3841 0.1196 0.1070 0.1306 hom 3182.92 113 1 207857254 . A G 3182.92 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.74;MQ0=1;QD=28.17;VQSLOD=8.7036;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3216,253,0 1 207890866 207890866 T C exonic CR1L nonsynonymous SNV CR1L:NM_175710:exon11:c.T1472C:p.L491P 0.27 0.14 0.51 0.12 0.43 0.26 0.3834 0.1752 0.5213 0.1215 0.4888 0.4371 0.3630 0.2888 0.35 0.17 0.43 0.25 . rs2796257 . . . . . . . . . . . . . 0.285 0.152 T 0.907 0.481 P 0.808 0.567 P . . . 1 0.090 P 2.185 0.615 M 1.89 0.237 T -1.29 0.324 N 0.103 0.107 -0.939 0.429 T 0.000 0.000 T . . . -0.211 0.075 1.042 0.955 0.264 0.011 0.039 N c -0.506 -0.765 0.000 0.052 0.638 0.428 0 -0.852 0.101 0.611 0.238 -0.735 0.035 0.000 0.063 0.000 0.016 2.840 0.051 Sushi/SCR/CCP domain ENSG00000117335.14|ENSG00000117335.14|ENSG00000117335.14 Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial 0.3938 0.1669 0.5204 0.3703 0.1216 0.4940 0.4386 0.4072 0.2919 0.3549 0.1707 0.4832 0.3642 0.1388 0.4923 0.4402 0.4449 hom 4692.79 149 1 207890866 . T C 4692.79 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.7046;MQ=52.61;MQ0=0;QD=31.50;VQSLOD=3.6736;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4692,364,0 1 208207839 208207839 G A exonic PLXNA2 synonymous SNV PLXNA2:NM_025179:exon27:c.C4863T:p.Y1621Y 0.44 0.54 0.45 0.26 0.62 0.31 0.5120 0.5523 0.4250 0.2590 0.5898 0.5870 0.5265 0.3446 0.57 0.55 0.57 0.5 0.55 rs3736963 COSM3746759 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5078 0.5566 0.4329 0.5169 0.2547 0.5937 0.5874 0.5339 0.3485 0.5606 0.5511 0.4785 0.47 0.2342 0.5857 0.6013 0.5727 hom 2445.75 78 1 208207839 . G A 2445.75 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8660;MQ=59.44;MQ0=0;QD=31.36;VQSLOD=9.5655;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2479,193,0 1 208390086 208390086 G C exonic PLXNA2 synonymous SNV PLXNA2:NM_025179:exon2:c.C1182G:p.T394T 0.37 0.36 0.33 0.4 0.3 0.42 0.3476 0.3561 0.3526 0.4183 0.3202 0.3215 0.3273 0.4224 0.34 0.35 0.33 0.4 0.26 rs1664227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3435 0.3454 0.3574 0.2587 0.4093 0.3201 0.3255 0.3230 0.4017 0.3314 0.3413 0.3496 0.2583 0.4133 0.3207 0.3203 0.3241 het 1251.98 101 1 208390086 . G C 1251.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.927;DP=101;Dels=0.00;FS=3.840;HRun=0;HaplotypeScore=3.9668;MQ=59.77;MQ0=0;MQRankSum=-2.050;QD=12.40;ReadPosRankSum=-0.704;VQSLOD=3.9692;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,48:101:99:1282,0,1427 1 208391085 208391085 G A exonic PLXNA2 synonymous SNV PLXNA2:NM_025179:exon2:c.C183T:p.A61A 0.083 0.013 0.14 0.016 0.16 0.12 0.1325 0.0346 0.1498 0.0179 0.1241 0.1595 0.1214 0.1367 0.13 0.045 0.17 0.076 0.18 rs12120681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1353 0.0301 0.1560 0.1095 0.0182 0.1268 0.1647 0.1351 0.1382 0.1102 0.0286 0.1423 0.1391 0.0240 0.1292 0.1588 0.1314 het 4252.05 246 1 208391085 . G A 4252.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.689;DP=246;DS;Dels=0.00;FS=4.395;HRun=0;HaplotypeScore=6.6581;MQ=59.20;MQ0=0;MQRankSum=2.195;QD=17.28;ReadPosRankSum=0.381;VQSLOD=3.7749;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,135:246:99:3631,0,2846 1 208391254 208391254 C T exonic PLXNA2 nonsynonymous SNV PLXNA2:NM_025179:exon2:c.G14A:p.R5Q 0.36 0.36 0.33 0.4 0.3 0.42 0.3521 0.3700 0.3583 0.4261 0.3346 0.3269 0.3297 0.4039 0.33 0.35 0.32 0.39 0.3 rs2782948 COSM1127155 1(haematopoietic_and_lymphoid_tissue);5(prostate);2(large_intestine) . . . . . . . . . . . 0.106 0.296 T 0.883 0.466 P 0.174 0.339 B 0.180 0.032 N 0.850 0.285 P 0 0.065 N 5.56 0.009 T -0.39 0.136 N 0.16 0.192 -0.902 0.478 T 0.000 0.000 T . . . 1.544 0.248 13.55 0.998 0.916 0.913 0.529 D c -0.106 0.006 1.000 0.747 0.722 0.854 0 5.5 0.813 1.149 0.310 0.935 0.490 0.263 0.248 0.120 0.196 13.682 0.618 . . . 0.3437 0.3460 0.3563 0.2577 0.4090 0.3194 0.3261 0.3219 0.4003 0.3301 0.3427 0.3441 0.2616 0.4076 0.3187 0.3182 0.3228 het 780.61 61 1 208391254 . C T 780.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.450;DP=61;Dels=0.00;FS=3.086;HRun=0;HaplotypeScore=1.3670;MQ=59.01;MQ0=0;MQRankSum=0.977;QD=12.80;ReadPosRankSum=-1.469;VQSLOD=6.1888;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:811,0,854 1 209785206 209785206 G A exonic CAMK1G nonsynonymous SNV CAMK1G:NM_020439:exon11:c.G985A:p.V329I 0.18 0.31 0.19 0.11 0.18 0.095 0.1876 0.2969 0.2007 0.1432 0.2599 0.1881 0.2026 0.1009 0.22 0.29 0.18 0.14 0.19 rs11119315 COSM3750848 3(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.199 0.204 T 0.008 0.135 B 0.006 0.112 B 0.110 0.026 N 1 0.090 P 0.895 0.225 L -0.3 0.679 T -0.34 0.127 N 0.055 0.037 -1.076 0.082 T 0.000 0.000 T . . . 0.141 0.107 4.048 0.849 0.150 0.053 0.110 N c -1.323 -1.327 1.000 0.436 0.534 0.214 0 -1.06 0.094 -0.739 0.049 -0.708 0.037 0.000 0.063 0.017 0.128 5.383 0.154 . . . 0.1858 0.2945 0.1897 0.2562 0.1358 0.2584 0.1794 0.1945 0.1024 0.2297 0.2938 0.1885 0.3013 0.1344 0.2607 0.1971 0.2182 het 2720.16 191 1 209785206 . G A 2720.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.609;DP=191;DS;Dels=0.00;FS=1.167;HRun=0;HaplotypeScore=6.1851;MQ=59.00;MQ0=0;MQRankSum=-1.379;QD=14.24;ReadPosRankSum=0.649;VQSLOD=4.4321;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,103:191:99:2750,0,2032 1 209788703 209788703 T C exonic LAMB3 synonymous SNV LAMB3:NM_001017402:exon22:c.A3432G:p.S1144S,LAMB3:NM_000228:exon23:c.A3432G:p.S1144S,LAMB3:NM_001127641:exon23:c.A3432G:p.S1144S 0.46 0.67 0.37 0.38 0.36 0.44 0.4019 0.6193 0.3891 0.4160 0.3931 0.3682 0.4082 0.4057 0.44 0.6 0.36 0.53 0.38 rs1049607 COSM4143295 1(oesophagus);1(thyroid) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000250773.1|RCV000286254.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3938 0.6198 0.3773 0.4278 0.4166 0.3880 0.3610 0.3756 0.4009 0.4413 0.6055 0.3604 0.4570 0.4294 0.3883 0.3672 0.3898 het 1712.30 133 1 209788703 . T C 1712.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.408;DP=133;Dels=0.00;FS=3.151;HRun=1;HaplotypeScore=3.6052;MQ=58.58;MQ0=0;MQRankSum=-0.207;QD=12.87;ReadPosRankSum=-0.568;VQSLOD=5.6409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,71:133:99:1742,0,1621 1 209799253 209799253 A G exonic LAMB3 synonymous SNV LAMB3:NM_001017402:exon13:c.T1716C:p.C572C,LAMB3:NM_000228:exon14:c.T1716C:p.C572C,LAMB3:NM_001127641:exon14:c.T1716C:p.C572C 0.77 0.78 0.71 0.83 0.73 0.75 0.7565 0.7736 0.7755 0.8259 0.7369 0.7469 0.7528 0.7425 0.75 0.77 0.73 0.77 0.6 rs2179402 COSM3746765 1(liver);1(thyroid) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000253193.1|RCV000341091.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7538 0.7677 0.7736 0.8236 0.8226 0.7312 0.7370 0.7411 0.7434 0.7430 0.7665 0.7578 0.8245 0.8080 0.7337 0.7220 0.7434 hom 1081.43 31 1 209799253 . A G 1081.43 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=34.88;VQSLOD=9.3759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:90.25:1114,90,0 1 209807972 209807972 G A exonic LAMB3 synonymous SNV LAMB3:NM_001017402:exon5:c.C384T:p.P128P,LAMB3:NM_000228:exon6:c.C384T:p.P128P,LAMB3:NM_001127641:exon6:c.C384T:p.P128P 0.25 0.091 0.24 0.24 0.39 0.32 0.3625 0.1504 0.2141 0.2551 0.4770 0.4234 0.3674 0.3520 0.31 0.15 0.4 0.15 0.36 rs1130667 COSM3746766 1(breast);1(kidney);1(liver);1(thyroid) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000242747.1|RCV000339606.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3438 0.1299 0.2134 0.3862 0.2275 0.4554 0.4050 0.3725 0.3402 0.3116 0.1368 0.2363 0.4007 0.2323 0.4702 0.3828 0.3842 het 402.97 40 1 209807972 . G A 402.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.477;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=59.42;MQ0=0;MQRankSum=-0.400;QD=10.07;ReadPosRankSum=0.538;VQSLOD=6.4482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,16:40:99:433,0,752 1 209811886 209811886 T G exonic LAMB3 synonymous SNV LAMB3:NM_001017402:exon3:c.A291C:p.S97S,LAMB3:NM_000228:exon4:c.A291C:p.S97S,LAMB3:NM_001127641:exon4:c.A291C:p.S97S 0.43 0.35 0.46 0.28 0.64 0.46 0.5709 0.4142 0.4398 0.2927 0.7056 0.6594 0.5980 0.4938 0.57 0.44 0.65 0.33 0.65 rs2076356 COSM146753 1(breast);2(haematopoietic_and_lymphoid_tissue);1(stomach) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000250461.1|RCV000361905.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5691 0.4096 0.4434 0.6768 0.2863 0.7033 0.6549 0.5993 0.4963 0.5704 0.4120 0.4642 0.7133 0.2758 0.7242 0.6569 0.6391 hom 3486.74 110 1 209811886 . T G 3486.74 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.197;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4706;MQ=60.00;MQ0=0;MQRankSum=-0.441;QD=31.70;ReadPosRankSum=-1.008;VQSLOD=9.0944;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,109:110:99:3451,230,0 1 209933540 209933540 A G exonic TRAF3IP3 synonymous SNV TRAF3IP3:NM_001320143:exon3:c.A156G:p.Q52Q,TRAF3IP3:NM_001320144:exon3:c.A156G:p.Q52Q,TRAF3IP3:NM_025228:exon3:c.A156G:p.Q52Q 0.37 0.74 0.28 0.21 0.24 0.24 0.2810 0.6945 0.2492 0.2195 0.2809 0.2387 0.2533 0.2476 0.38 0.68 0.22 0.52 0.2 rs2076150 COSM4143298;COSM4143297 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2683 0.6988 0.2477 0.1930 0.2250 0.2736 0.2340 0.2534 0.2485 0.3613 0.6796 0.2254 0.1623 0.2367 0.2639 0.2299 0.2699 het 1013.26 85 1 209933540 . A G 1013.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.574;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6598;MQ=59.07;MQ0=0;MQRankSum=1.221;QD=11.92;ReadPosRankSum=0.076;VQSLOD=6.2842;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,42:85:99:1043,0,1064 1 209936914 209936914 C T exonic TRAF3IP3 synonymous SNV TRAF3IP3:NM_001320143:exon8:c.C684T:p.A228A,TRAF3IP3:NM_001320144:exon8:c.C624T:p.A208A,TRAF3IP3:NM_025228:exon8:c.C684T:p.A228A 0.38 0.69 0.28 0.31 0.23 0.27 0.2878 0.6471 0.2430 0.3316 0.2892 0.2385 0.2583 0.2699 0.36 0.64 0.22 0.54 0.17 rs17015169 COSM3997197;COSM3997196 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2753 0.6507 0.2409 0.2098 0.3339 0.2850 0.2316 0.2551 0.2697 0.3566 0.6379 0.2237 0.1755 0.3472 0.2736 0.2294 0.2832 het 450.45 50 1 209936914 . C T 450.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.198;DP=50;Dels=0.00;FS=1.177;HRun=1;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=-1.000;QD=9.01;ReadPosRankSum=-0.050;VQSLOD=6.1055;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,20:50:99:480,0,804 1 209950760 209950760 C G exonic TRAF3IP3 nonsynonymous SNV TRAF3IP3:NM_001287754:exon5:c.C325G:p.Q109E,TRAF3IP3:NM_001320143:exon12:c.C1117G:p.Q373E,TRAF3IP3:NM_001320144:exon12:c.C1057G:p.Q353E,TRAF3IP3:NM_025228:exon12:c.C1117G:p.Q373E 0.81 0.88 0.78 0.81 0.77 0.79 0.7901 0.8662 0.7842 0.8086 0.7425 0.7833 0.7792 0.7836 0.82 0.86 0.8 0.84 0.74 rs669694 COSM1127153 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 1.000 0.090 P -2.3 0.001 N -1.1 0.773 T 1.91 0.007 N 0.016 0.010 -0.947 0.416 T 0.000 0.000 T . . . 0.751 0.166 9.160 0.882 0.172 0.024 0.067 N c -0.672 -0.357 1.000 0.439 0.672 0.522 0 5.56 0.836 3.948 0.561 0.136 0.221 1.000 0.715 0.999 0.750 15.398 0.744 . ENSG00000117597.13|ENSG00000143469.12|ENSG00000009790.10 Cells_Transformed_fibroblasts|Nerve_Tibial|Whole_Blood 0.7909 0.8680 0.7896 0.8176 0.8057 0.7461 0.7870 0.7907 0.7836 0.8086 0.8654 0.7995 0.8609 0.7993 0.7539 0.7905 0.7800 het 1109.84 83 1 209950760 . C G 1109.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.049;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.68;MQ0=0;MQRankSum=0.548;QD=13.37;ReadPosRankSum=1.114;VQSLOD=6.3495;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:1140,0,1167 1 210004199 210004199 C G exonic DIEXF nonsynonymous SNV DIEXF:NM_014388:exon3:c.C199G:p.Q67E 0.59 0.61 0.54 0.39 0.73 0.67 0.6730 0.5952 0.4837 0.3918 0.7349 0.7469 0.6894 0.6778 0.7 0.59 0.76 0.59 0.75 rs585627 COSM1338527 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -2.42 0.001 N 1.17 0.379 T 1.9 0.005 N 0.06 0.044 -0.936 0.433 T 0.000 0.000 T . . . 0.387 0.131 6.503 0.230 0.010 0.052 0.109 N c -0.823 -0.517 1.000 0.747 0.732 0.924 0 5.02 0.666 5.267 0.651 0.136 0.221 1.000 0.715 0.983 0.502 15.931 0.794 . ENSG00000117597.13|ENSG00000117597.13|ENSG00000117597.13|ENSG00000117597.13|ENSG00000143469.12|ENSG00000117597.13|ENSG00000117597.13 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Spleen|Whole_Blood 0.6681 0.5957 0.4948 0.7426 0.3906 0.7429 0.7498 0.6993 0.6755 0.6858 0.6019 0.5658 0.7483 0.3905 0.7521 0.7551 0.7071 het 1586.55 134 1 210004199 . C G 1586.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.426;DP=134;Dels=0.00;FS=0.717;HRun=0;HaplotypeScore=2.9402;MQ=58.02;MQ0=0;MQRankSum=0.456;QD=11.84;ReadPosRankSum=-1.664;VQSLOD=4.8119;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,58:134:99:1617,0,2044 1 210006603 210006603 C T exonic DIEXF synonymous SNV DIEXF:NM_014388:exon4:c.C462T:p.P154P 0.59 0.61 0.54 0.39 0.73 0.67 0.6741 0.6020 0.4844 0.3937 0.7352 0.7472 0.6909 0.6782 0.71 0.6 0.76 0.59 0.77 rs656566 COSM146755 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6698 0.6032 0.4948 0.7426 0.3906 0.7428 0.7503 0.6997 0.6760 0.6888 0.6115 0.5670 0.7550 0.3896 0.7521 0.7555 0.7067 het 1188.47 84 1 210006603 . C T 1188.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.149;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5562;MQ=59.50;MQ0=0;MQRankSum=-1.592;QD=14.15;ReadPosRankSum=0.306;VQSLOD=5.8442;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,44:84:99:1218,0,983 1 210577873 210577873 G C exonic HHAT synonymous SNV HHAT:NM_001170587:exon5:c.G537C:p.L179L,HHAT:NM_001170588:exon5:c.G339C:p.L113L,HHAT:NM_001122834:exon6:c.G534C:p.L178L,HHAT:NM_001170580:exon6:c.G534C:p.L178L,HHAT:NM_018194:exon6:c.G534C:p.L178L 0.76 0.85 0.84 0.63 0.76 0.71 0.7706 0.8245 0.8677 0.6207 0.8014 0.7732 0.7676 0.7239 0.78 0.81 0.76 0.7 0.75 rs2066721 COSM4415443;COSM4415445;COSM4415444 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7717 0.8225 0.8583 0.7176 0.6175 0.8051 0.7752 0.7692 0.7196 0.7858 0.8188 0.8389 0.7333 0.5890 0.8007 0.7814 0.8033 hom 4725.94 141 1 210577873 . G C 4725.94 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9886;MQ=59.57;MQ0=0;QD=33.52;VQSLOD=8.8498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4725,367,0 1 210857457 210857457 A G exonic KCNH1 synonymous SNV KCNH1:NM_002238:exon11:c.T2055C:p.D685D,KCNH1:NM_172362:exon11:c.T2136C:p.D712D 0.74 0.81 0.69 0.65 0.71 0.8 0.7114 0.7972 0.6484 0.6478 0.6333 0.7125 0.7430 0.8019 0.74 0.8 0.71 0.7 0.61 rs1135317 COSM5053064 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7101 0.7983 0.6665 0.7731 0.6509 0.6444 0.7105 0.7327 0.8015 0.7057 0.7922 0.6687 0.7567 0.6317 0.6358 0.6813 0.6953 hom 2794.72 94 1 210857457 . A G 2794.72 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.56;MQ0=0;QD=29.73;VQSLOD=8.4794;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2828,241,0 1 211836789 211836789 T C exonic NEK2 synonymous SNV NEK2:NM_002497:exon8:c.A1317G:p.R439R 0.31 0.38 0.35 0.26 0.23 0.32 0.2871 0.3850 0.3793 0.2827 0.2737 0.2525 0.3029 0.2992 0.27 0.36 0.23 0.29 0.22 rs12031285 . . Benign not_specified RCV000454718.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2684 0.3807 0.3520 0.2157 0.2730 0.2586 0.2299 0.2588 0.2829 0.2937 0.3736 0.3628 0.2318 0.2670 0.2529 0.2581 0.2755 het 358.55 28 1 211836789 . T C 358.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.455;DP=28;Dels=0.00;FS=1.882;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=-0.138;QD=12.81;ReadPosRankSum=-0.553;VQSLOD=5.8985;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:389,0,408 1 211846876 211846876 A G exonic NEK2 synonymous SNV NEK2:NM_001204182:exon3:c.T504C:p.H168H,NEK2:NM_001204183:exon3:c.T504C:p.H168H,NEK2:NM_002497:exon3:c.T504C:p.H168H 0.6 0.55 0.67 0.73 0.47 0.64 0.5584 0.5471 0.7423 0.7285 0.5842 0.4851 0.5881 0.6312 0.5 0.53 0.48 0.51 0.49 rs701929 COSM4770044;COSM4770045;COSM4770043 1(biliary_tract) Benign not_specified RCV000456053.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5671 0.5455 0.7353 0.4785 0.7303 0.5820 0.4818 0.5473 0.6328 0.5509 0.5476 0.7184 0.5199 0.7252 0.5727 0.5189 0.5703 het 1950.40 149 1 211846876 . A G 1950.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.791;DP=149;Dels=0.00;FS=4.623;HRun=0;HaplotypeScore=0.9983;MQ=58.19;MQ0=0;MQRankSum=0.961;QD=13.09;ReadPosRankSum=-0.720;VQSLOD=5.2288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,83:149:99:1980,0,1843 1 211848807 211848807 A C exonic NEK2 synonymous SNV NEK2:NM_001204182:exon1:c.T15G:p.A5A,NEK2:NM_001204183:exon1:c.T15G:p.A5A,NEK2:NM_002497:exon1:c.T15G:p.A5A 0.032 0.0015 0.11 . 0.064 0.022 0.0544 0.0130 0.1399 0.0005 0.0256 0.0585 0.0480 0.0435 0.046 0.016 0.062 0.022 0.033 rs55635245 . . Benign not_specified RCV000454667.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0576 0.0118 0.1388 0.0318 0.0003 0.0281 0.0609 0.0530 0.0425 0.0427 0.0144 0.1205 0.0331 0.0006 0.0272 0.0624 0.0560 het 1518.89 136 1 211848807 . A C 1518.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.613;DP=136;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4416;MQ=59.31;MQ0=0;MQRankSum=0.207;QD=11.17;ReadPosRankSum=-1.757;VQSLOD=3.5414;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,66:136:99:1549,0,2023 1 212273639 212273639 C T exonic DTL nonsynonymous SNV DTL:NM_001286229:exon12:c.C494T:p.A165V,DTL:NM_001286230:exon13:c.C1181T:p.A394V,DTL:NM_016448:exon14:c.C1307T:p.A436V 0.96 0.91 1. 1. 0.96 0.96 0.9627 0.9216 0.9827 0.9994 0.9723 0.9630 0.9557 0.9495 0.95 0.92 0.96 0.96 0.98 rs3135474 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.103 0.198 N 1 0.090 P -0.69 0.019 N -0.52 0.707 T 0.09 0.059 N 0.054 0.036 -0.956 0.399 T 0.000 0.000 T . . . -1.139 0.027 0.008 0.670 0.080 0.007 0.029 N c -1.351 -1.237 0.908 0.262 0.737 0.974 0 1.48 0.218 0.081 0.146 -0.208 0.100 0.080 0.221 0.883 0.370 11.762 0.510 . ENSG00000229258.1 Testis 0.9651 0.9151 0.9825 0.9879 0.9997 0.9764 0.9619 0.9680 0.9472 0.9533 0.9157 0.9833 0.9801 0.9994 0.9708 0.9637 0.9561 hom 2722 95 1 212273639 . C T 2722 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5741;MQ=59.26;MQ0=0;QD=28.65;VQSLOD=6.4753;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,94:95:99:2755,229,0 1 212274413 212274413 A C exonic DTL nonsynonymous SNV DTL:NM_001286229:exon12:c.A1268C:p.K423T,DTL:NM_001286230:exon13:c.A1955C:p.K652T,DTL:NM_016448:exon14:c.A2081C:p.K694T 1. 1. 1. 1. 0.99 1. 0.9887 0.9979 0.9933 1 0.9853 0.9840 0.9877 0.9952 0.99 1. 0.99 1. 0.99 rs6540718 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.291 N 1 0.090 P -1.525 0.005 N -0.46 0.700 T 0.33 0.039 N 0.03 0.011 -0.950 0.411 T 0.000 0.000 T . . . -0.922 0.035 0.023 0.581 0.058 0.003 0.016 N c -1.308 -1.185 0.826 0.246 0.732 0.924 0 2.71 0.310 -0.676 0.053 0.067 0.174 0.000 0.063 0.241 0.226 5.714 0.171 . . . 0.9897 0.9977 0.9931 0.9958 1 0.9875 0.9844 0.9885 0.9953 0.9889 0.9972 0.9928 0.9934 1 0.9877 0.9830 0.9857 hom 2000.78 60 1 212274413 . A C 2000.78 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.84;MQ0=0;QD=33.35;VQSLOD=9.9711;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2034,156,0 1 212560327 212560327 A G exonic TMEM206 synonymous SNV TMEM206:NM_018252:exon3:c.T249C:p.F83F,TMEM206:NM_001198862:exon4:c.T432C:p.F144F 0.99 1. 0.99 1. 0.98 1. 0.9871 0.9965 0.9946 0.9999 0.9555 0.9838 0.9857 0.9949 0.99 1. 0.98 1. 0.98 rs792449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9860 0.9967 0.9931 0.9943 0.9999 0.9587 0.9828 0.9830 0.9944 0.9852 0.9975 0.9881 1 1 0.9631 0.9815 0.9807 hom 7719.62 231 1 212560327 . A G 7719.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.537;DP=231;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4942;MQ=59.50;MQ0=0;MQRankSum=1.717;QD=33.42;ReadPosRankSum=1.087;VQSLOD=6.2508;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,230:231:99:7688,592,0 1 212798977 212798977 A G exonic FAM71A nonsynonymous SNV FAM71A:NM_153606:exon1:c.A758G:p.N253S 0.25 0.46 0.2 0.08 0.26 0.19 0.2566 0.4426 0.1965 0.0829 0.1733 0.2756 0.25 0.2300 0.34 0.44 0.29 0.3 0.22 rs3122712 COSM3997206 1(haematopoietic_and_lymphoid_tissue);2(pancreas) . . . . . . . . . . . 0.743 0.037 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P -1.24 0.008 N 3.99 0.033 T 1.04 0.013 N 0.028 0.009 -0.968 0.377 T 0.000 0.000 T . . . -0.080 0.086 1.881 0.579 0.057 0.013 0.044 N c -1.440 -1.456 0.000 0.052 0.447 0.083 0 -0.822 0.102 -0.240 0.089 -1.335 0.013 0.000 0.063 0.000 0.016 1.768 0.028 . . . 0.2518 0.4433 0.2031 0.2933 0.0851 0.1745 0.2831 0.2673 0.2296 0.3003 0.4430 0.2267 0.2384 0.0803 0.1842 0.2786 0.2219 het 3224.03 240 1 212798977 . A G 3224.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.647;DP=240;DS;Dels=0.00;FS=1.583;HRun=0;HaplotypeScore=3.3245;MQ=58.98;MQ0=1;MQRankSum=-0.302;QD=13.43;ReadPosRankSum=-1.264;VQSLOD=6.0432;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,119:240:99:3254,0,3163 1 212799870 212799870 A G exonic FAM71A nonsynonymous SNV FAM71A:NM_153606:exon1:c.A1651G:p.N551D 0.78 0.77 0.76 0.68 0.84 0.87 0.8335 0.7890 0.7930 0.6499 0.8813 0.8584 0.8381 0.8656 0.84 0.79 0.87 0.74 0.81 rs3122713 COSM4143311 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.24 0.001 N 4.7 0.017 T 3.74 0.001 N 0.028 0.009 -1.063 0.111 T 0.000 0.000 T . . . 0.179 0.111 4.459 0.634 0.070 0.000 0.003 N c -1.645 -1.528 0.000 0.069 0.554 0.283 0 1.19 0.200 0.015 0.131 -0.221 0.097 0.004 0.165 0.005 0.090 6.564 0.216 . . . 0.8321 0.7833 0.7944 0.7858 0.6502 0.8821 0.8630 0.8271 0.8664 0.8285 0.7828 0.8150 0.7980 0.6248 0.8792 0.8645 0.8612 hom 4203.94 125 1 212799870 . A G 4203.94 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.698;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=59.45;MQ0=0;MQRankSum=-1.620;QD=33.63;ReadPosRankSum=-0.028;VQSLOD=9.6927;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,124:125:99:4167,301,0 1 212799949 212799949 C T exonic FAM71A nonsynonymous SNV FAM71A:NM_153606:exon1:c.C1730T:p.T577M 0.48 0.34 0.32 0.45 0.65 0.68 0.5754 0.3731 0.2757 0.4359 0.7306 0.6391 0.6109 0.6653 0.55 0.39 0.63 0.36 0.66 rs3795842 COSM3721732 3(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.483 0.081 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.245 0.008 N 3.88 0.036 T 1.02 0.014 N 0.033 0.013 -1.091 0.054 T 0.000 0.000 T . . . 0.997 0.189 10.64 0.748 0.105 0.001 0.004 N c -1.414 -1.356 0.002 0.092 0.447 0.083 0 1.7 0.232 0.084 0.146 -0.254 0.089 0.000 0.063 0.000 0.016 3.795 0.082 . . . 0.5669 0.3682 0.2877 0.6140 0.4318 0.7309 0.6360 0.5770 0.6606 0.5510 0.3690 0.3493 0.6490 0.4212 0.7215 0.6339 0.6483 hom 4906.62 162 1 212799949 . C T 4906.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.748;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3776;MQ=59.11;MQ0=0;MQRankSum=1.091;QD=30.29;ReadPosRankSum=-0.962;VQSLOD=7.6554;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,161:162:99:4872,360,0 1 212900487 212900487 A G exonic NSL1 synonymous SNV NSL1:NM_001297739:exon5:c.T534C:p.V178V 0.91 0.91 0.96 0.89 0.92 0.89 0.9154 0.9194 0.9671 0.9022 0.9214 0.9136 0.9092 0.8932 0.91 0.92 0.91 0.92 . rs2244935 COSM4143313 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9125 0.9138 0.9596 0.8943 0.9037 0.9247 0.9052 0.9108 0.8844 0.9094 0.9181 0.9475 0.8907 0.8931 0.9218 0.9014 0.9092 hom 851.95 30 1 212900487 . A G 851.95 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=28.40;VQSLOD=8.3714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:66.21:885,66,0 1 212911836 212911836 T C exonic NSL1 nonsynonymous SNV NSL1:NM_001297736:exon4:c.A637G:p.M213V,NSL1:NM_015471:exon6:c.A760G:p.M254V 0.61 0.65 0.44 0.53 0.69 0.66 0.6402 0.6723 0.3624 0.5234 0.7456 0.6921 0.6256 0.6245 0.68 0.68 0.68 0.62 0.82 rs15702 COSM3746776 1(haematopoietic_and_lymphoid_tissue);1(liver);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.186 0.032 N 1 0.090 P -1.59 0.004 N 1.85 0.245 T 0.87 0.017 N 0.023 0.006 -0.969 0.374 T 0.000 0.000 T . . . -3.779 0.000 0.001 0.293 0.015 0.006 0.027 N c -2.458 -2.473 1.000 0.747 0.706 0.609 0 -10.5 0.002 -3.803 0.004 -2.388 0.003 0.000 0.063 0.000 0.016 1.497 0.023 . ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000185523.6|ENSG00000203705.6|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6278 0.6704 0.3876 0.6040 0.5278 0.7329 0.6925 0.6278 0.6212 0.6821 0.6693 0.4462 0.5833 0.5316 0.7320 0.7094 0.6816 hom 3994.29 129 1 212911836 . T C 3994.29 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=30.96;VQSLOD=9.8221;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3994,322,0 1 212965284 212965284 C G exonic TATDN3 synonymous SNV TATDN3:NM_001042552:exon1:c.C21G:p.G7G,TATDN3:NM_001042553:exon1:c.C21G:p.G7G,TATDN3:NM_001146169:exon1:c.C21G:p.G7G,TATDN3:NM_001146170:exon1:c.C21G:p.G7G,TATDN3:NM_001146171:exon1:c.C21G:p.G7G 0.23 0.4 0.12 0.15 0.15 0.23 0.1751 0.3813 0.0959 0.1597 0.1108 0.1617 0.1568 0.1920 0.22 0.36 0.15 0.32 0.14 rs61736926 COSM425259 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1626 0.3770 0.0934 0.1347 0.1504 0.1011 0.1633 0.1608 0.1914 0.2144 0.3768 0.1050 0.1133 0.1667 0.1110 0.1613 0.1507 het 375.87 30 1 212965284 . C G 375.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.898;DP=30;Dels=0.00;FS=2.269;HRun=2;HaplotypeScore=3.1531;MQ=58.45;MQ0=0;MQRankSum=1.286;QD=12.53;ReadPosRankSum=-0.655;VQSLOD=5.0639;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,14:30:99:406,0,371 1 212985592 212985592 G A exonic;splicing TATDN3;TATDN3 NM_001042553:exon9:c.601-1G>A synonymous SNV TATDN3:NM_001146170:exon8:c.G540A:p.K180K,TATDN3:NM_001042552:exon9:c.G603A:p.K201K,TATDN3:NM_001146169:exon9:c.G624A:p.K208K,TATDN3:NM_001146171:exon9:c.G624A:p.K208K 0.02 0.0008 0.02 0.012 0.037 0.038 0.0283 0.0063 0.0129 0.0177 0.0148 0.0334 0.0291 0.0431 0.025 0.0068 0.034 0.022 0.016 rs78095001 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.810 D . . . . . . . . . . . . . . . . . . . . 1.569 0.250 13.68 0.995 0.661 0.981 0.791 D c 0.391 0.467 1.000 0.747 0.732 0.924 0 5.28 0.740 5.251 0.650 0.948 0.535 1.000 0.715 1.000 0.888 18.524 0.909 . ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000203705.6|ENSG00000185523.6|ENSG00000203705.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.0267 0.0048 0.0133 0.0227 0.0168 0.0143 0.0332 0.0237 0.0435 0.0196 0.0061 0.0155 0.0199 0.0105 0.0160 0.0292 0.0244 het 795.51 47 1 212985592 . G A 795.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.022;DP=47;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.20;MQ0=0;MQRankSum=-0.232;QD=16.93;ReadPosRankSum=-0.985;VQSLOD=5.7455;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,30:47:99:826,0,405 1 213009469 213009469 A G exonic SPATA45 nonsynonymous SNV SPATA45:NM_001024601:exon2:c.T23C:p.I8T 0.66 0.79 0.46 0.54 0.74 0.66 0.6720 0.7936 0.3790 0.5389 0.7998 0.7228 0.6520 0.6145 0.74 0.8 0.71 0.69 0.83 rs10864004 COSM3746778 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.041 0.019 N 1 0.090 P . . . 0.97 0.425 T 2.08 0.004 N 0.017 0.003 -1.041 0.170 T 0.000 0.000 T . . . -4.040 0.000 0.001 0.067 0.000 0.002 0.012 N c -2.690 -2.824 1.000 0.747 0.554 0.283 0 -8.99 0.006 -4.616 0.002 -2.318 0.003 0.000 0.063 0.000 0.016 3.346 0.067 . ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000203705.6|ENSG00000198468.3|ENSG00000162769.8|ENSG00000203705.6|ENSG00000198468.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6558 0.7907 0.3995 0.6035 0.5329 0.7933 0.7243 0.6497 0.6068 0.7393 0.7851 0.4736 0.5667 0.5571 0.7858 0.7401 0.7351 hom 2870.02 91 1 213009469 . A G 2870.02 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=31.54;VQSLOD=8.9796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2903,223,0 1 213068595 213068595 C T exonic FLVCR1 nonsynonymous SNV FLVCR1:NM_014053:exon10:c.C1631T:p.T544M 0.38 0.13 0.28 0.46 0.5 0.58 0.4492 0.1944 0.2673 0.4787 0.5869 0.4896 0.4681 0.5024 0.38 0.21 0.48 0.34 0.48 rs3207090 COSM1560294 4(prostate) Likely benign|Benign not_specified|Posterior_column_ataxia_with_retinitis_pigmentosa RCV000117088.2|RCV000330210.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1836916:609033:ORPHA88628 . . . . . . 0.007 0.599 D 0.863 0.455 P 0.198 0.351 B 0.159 0.030 N 1 0.090 P 1.95 0.526 M -1.63 0.825 D -0.3 0.119 N 0.196 0.240 -1.009 0.272 T 0.000 0.000 T . . . 0.892 0.179 10.03 0.951 0.257 0.019 0.057 N c -0.801 -0.983 0.016 0.128 0.707 0.730 0 -2.58 0.058 -0.572 0.059 -0.538 0.048 0.000 0.063 0.027 0.143 3.348 0.067 . ENSG00000198468.3|ENSG00000203705.6|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000198468.3|ENSG00000198468.3|ENSG00000162769.8|ENSG00000198468.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.4448 0.1885 0.2831 0.3741 0.4782 0.5714 0.4901 0.4358 0.4983 0.4131 0.1976 0.3141 0.3841 0.4851 0.5504 0.4987 0.5041 hom 2799.54 95 1 213068595 . C T 2799.54 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;QD=29.47;VQSLOD=9.0380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2833,220,0 1 214492286 214492286 G A exonic SMYD2 nonsynonymous SNV SMYD2:NM_020197:exon5:c.G494A:p.G165E 0.83 1. 0.76 0.62 0.91 0.8 0.8580 0.9814 0.7025 0.6172 0.8654 0.9091 0.8502 0.8062 0.94 0.98 0.92 0.84 0.88 rs1134647 . . . . . . . . . . . . . 0.834 0.029 T 0.0 0.067 B 0.0 0.040 B 0.000 0.629 N 1.000 0.206 P -1.445 0.006 N 2.57 0.136 T 2.69 0.002 N 0.033 0.013 -0.917 0.459 T 0.000 0.000 T . . . 1.413 0.233 12.86 0.391 0.027 0.242 0.221 N c -0.677 -0.466 1.000 0.747 0.707 0.730 0 5.48 0.806 4.948 0.631 0.244 0.267 1.000 0.715 0.658 0.300 11.467 0.493 SET domain . . 0.8484 0.9835 0.7158 0.8262 0.6200 0.8650 0.9145 0.8579 0.8075 0.9032 0.9802 0.7936 0.8212 0.6030 0.8581 0.9100 0.8865 hom 4676.06 150 1 214492286 . G A 4676.06 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3732;MQ=59.44;MQ0=0;QD=31.17;VQSLOD=8.1129;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4676,373,0 1 214542819 214542819 T C exonic PTPN14 synonymous SNV PTPN14:NM_005401:exon17:c.A3252G:p.E1084E 0.78 0.96 0.67 0.65 0.78 0.78 0.7695 0.9362 0.6400 0.6186 0.7866 0.7819 0.7401 0.7787 0.83 0.93 0.78 0.77 0.7 rs1135352 COSM146762 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7594 0.9379 0.6481 0.7075 0.6208 0.7865 0.7842 0.7416 0.7799 0.8203 0.9334 0.6993 0.6987 0.6228 0.7798 0.7958 0.7994 hom 5423.96 163 1 214542819 . T C 5423.96 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9052;MQ=59.58;MQ0=0;QD=33.28;VQSLOD=9.0943;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5424,421,0 1 214564340 214564340 T C exonic PTPN14 synonymous SNV PTPN14:NM_005401:exon11:c.A978G:p.R326R 0.79 0.99 0.68 0.63 0.77 0.76 0.7725 0.9633 0.6424 0.6137 0.7769 0.7869 0.7247 0.7685 0.84 0.95 0.78 0.78 0.74 rs7550799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7608 0.9667 0.6441 0.7276 0.6141 0.7740 0.7886 0.7409 0.7666 0.8295 0.9580 0.6974 0.7252 0.6110 0.7668 0.8041 0.8014 hom 1467.89 49 1 214564340 . T C 1467.89 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.37;MQ0=0;QD=29.96;VQSLOD=8.8756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1501,114,0 1 214787130 214787130 G A exonic CENPF synonymous SNV CENPF:NM_016343:exon2:c.G33A:p.G11G 0.24 0.052 0.32 0.12 0.5 0.28 0.3957 0.1009 0.2497 0.1152 0.4505 0.5145 0.4324 0.3251 0.38 0.12 0.52 0.25 0.46 rs2070064 COSM425275 1(liver);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3986 0.0958 0.2623 0.4939 0.1155 0.4606 0.5207 0.4190 0.3255 0.3735 0.1108 0.2907 0.4603 0.1026 0.4610 0.5327 0.4613 het 1705.07 111 1 214787130 . G A 1705.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.717;DP=111;Dels=0.00;FS=1.624;HRun=0;HaplotypeScore=3.3514;MQ=58.49;MQ0=0;MQRankSum=2.170;QD=15.36;ReadPosRankSum=1.196;VQSLOD=4.7206;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,68:111:99:1735,0,1113 1 214814571 214814571 C T exonic CENPF synonymous SNV CENPF:NM_016343:exon12:c.C2890T:p.L964L 0.24 0.052 0.32 0.12 0.5 0.29 0.3971 0.1013 0.2497 0.1168 0.4499 0.5156 0.4265 0.3210 0.38 0.12 0.51 0.26 0.32 rs3795521 COSM425278 1(bone);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3960 0.0955 0.2601 0.4889 0.1150 0.4587 0.5195 0.4134 0.3186 0.3743 0.1112 0.2926 0.4669 0.1033 0.4609 0.5334 0.4640 het 617.96 53 1 214814571 . C T 617.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.211;DP=53;Dels=0.00;FS=4.576;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.619;QD=11.66;ReadPosRankSum=-1.247;VQSLOD=5.9110;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,23:53:99:648,0,885 1 214820099 214820099 A G exonic CENPF nonsynonymous SNV CENPF:NM_016343:exon13:c.A7186G:p.N2396D 0.23 0.052 0.31 0.12 0.48 0.29 0.3926 0.1019 0.2490 0.1172 0.4398 0.5087 0.4187 0.3225 0.38 0.12 0.51 0.25 0.35 rs3748697 COSM425281 3(prostate);1(large_intestine) . . . . . . . . . . . 0.552 0.065 T 0.013 0.154 B 0.018 0.173 B 0.021 0.268 N 0.914 0.274 P 1.06 0.271 L 0.96 0.429 T -0.8 0.221 N 0.007 0.000 -0.916 0.461 T 0.000 0.000 T . . . 0.667 0.158 8.610 0.766 0.112 0.324 0.244 N c -0.792 -0.772 0.987 0.311 0.732 0.924 0 3.97 0.451 0.224 0.174 1.176 0.903 0.003 0.159 0.607 0.290 5.149 0.142 . . . 0.3922 0.0954 0.2620 0.4938 0.1154 0.4489 0.5125 0.4133 0.3247 0.3687 0.1102 0.2900 0.4667 0.1032 0.4538 0.5247 0.4581 het 421.24 35 1 214820099 . A G 421.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.139;DP=35;Dels=0.00;FS=3.067;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.073;QD=12.04;ReadPosRankSum=-1.073;VQSLOD=6.0148;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,18:35:99:451,0,466 1 214826196 214826196 G A exonic CENPF nonsynonymous SNV CENPF:NM_016343:exon16:c.G8186A:p.R2729Q 0.56 0.29 0.59 0.88 0.44 0.7 0.5174 0.3195 0.6967 0.8872 0.4938 0.4386 0.5144 0.6516 0.39 0.32 0.43 0.42 0.38 rs335524 . . . . . . . . . . . . . 0.688 0.043 T 0.003 0.102 B 0.001 0.040 B . . . 1.000 0.090 P -0.28 0.037 N 4.11 0.029 T 0.66 0.023 N 0.02 0.004 -1.022 0.229 T 0.000 0.000 T . . . -0.536 0.053 0.179 0.130 0.002 0.017 0.054 N c -1.667 -1.697 0.883 0.256 0.707 0.730 0 -6.44 0.017 -0.027 0.122 -1.158 0.017 0.273 0.248 0.358 0.247 14.173 0.649 . . . 0.5189 0.3084 0.6805 0.4724 0.8890 0.4919 0.4273 0.5240 0.6392 0.4197 0.3037 0.6394 0.4603 0.8853 0.4816 0.4069 0.4541 het 1479.15 120 1 214826196 . G A 1479.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.044;DP=120;Dels=0.00;FS=3.512;HRun=1;HaplotypeScore=0.5784;MQ=59.61;MQ0=0;MQRankSum=1.998;QD=12.33;ReadPosRankSum=0.076;VQSLOD=6.0863;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,58:120:99:1509,0,1393 1 214830617 214830617 A G exonic CENPF nonsynonymous SNV CENPF:NM_016343:exon18:c.A8827G:p.R2943G 0.62 0.35 0.64 0.89 0.56 0.74 0.5987 0.3949 0.7356 0.8838 0.5753 0.5448 0.5894 0.7086 0.49 0.4 0.54 0.51 0.62 rs438034 . . . . . . . Response to antineoplastic agents 1.88 . 21659360 rs438034 5E-6 0.663 0.046 T 0.0 0.026 B 0.0 0.013 B 0.879 0.088 N 1.000 0.186 P -1.63 0.004 N 4.17 0.028 T 0.96 0.015 N 0.027 0.009 -1.060 0.117 T 0.000 0.000 T . . . 1.002 0.190 10.67 0.678 0.082 0.008 0.034 N c -1.105 -0.987 0.999 0.399 0.707 0.730 0 2.52 0.294 0.952 0.285 -0.196 0.103 0.307 0.252 0.004 0.083 7.878 0.286 . . . 0.6051 0.3837 0.7234 0.5579 0.8851 0.5731 0.5395 0.5923 0.7067 0.5075 0.3792 0.6878 0.5563 0.8817 0.5650 0.5146 0.5473 het 1348.88 109 1 214830617 . A G 1348.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.744;DP=109;Dels=0.00;FS=4.886;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.108;QD=12.38;ReadPosRankSum=-0.772;VQSLOD=5.8767;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,48:109:99:1379,0,1733 1 214837110 214837110 C G exonic CENPF nonsynonymous SNV CENPF:NM_016343:exon20:c.C9318G:p.N3106K 0.63 0.38 0.68 0.89 0.56 0.75 0.6080 0.4211 0.7583 0.8807 0.5760 0.5518 0.6102 0.7157 0.5 0.42 0.55 0.51 0.6 rs7289 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.073 0.214 N 1 0.090 P -0.975 0.012 N 4.04 0.032 T 0.39 0.035 N 0.017 0.003 -1.012 0.264 T 0.000 0.000 T . . . 0.570 0.148 7.945 0.342 0.021 0.001 0.009 N c -1.333 -1.199 0.998 0.367 0.707 0.730 0 3.74 0.419 0.576 0.233 0.136 0.221 0.001 0.137 0.003 0.074 4.434 0.109 Kinetochore protein Cenp-F/LEK1\x2c Rb protein-binding domain . . 0.6142 0.4075 0.7494 0.5624 0.8822 0.5745 0.5460 0.6002 0.7134 0.5199 0.4045 0.7029 0.5667 0.8801 0.5679 0.5230 0.5624 het 544.07 46 1 214837110 . C G 544.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.102;DP=46;Dels=0.00;FS=4.119;HRun=2;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=-1.919;QD=11.83;ReadPosRankSum=0.221;VQSLOD=5.1001;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,21:46:99:574,0,619 1 215793834 215793834 G A exonic KCTD3 synonymous SNV KCTD3:NM_001319294:exon18:c.G2316A:p.A772A,KCTD3:NM_001319295:exon18:c.G2010A:p.A670A,KCTD3:NM_016121:exon18:c.G2322A:p.A774A 0.41 0.29 0.61 0.35 0.64 0.28 0.5547 0.3188 0.6304 0.3625 0.6905 0.6489 0.5628 0.3143 0.54 0.32 0.66 0.46 0.64 rs14137 COSM3750862 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5643 0.3081 0.6362 0.5600 0.3743 0.6897 0.6511 0.5753 0.3132 0.5596 0.3169 0.6316 0.5728 0.4152 0.7142 0.6713 0.6309 hom 2837.07 103 1 215793834 . G A 2837.07 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.951;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9658;MQ=59.10;MQ0=0;MQRankSum=0.755;QD=27.54;ReadPosRankSum=2.128;VQSLOD=7.1387;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:3,100:103:99:2870,158,0 1 215848062 215848062 C T exonic USH2A synonymous SNV USH2A:NM_206933:exon63:c.G13191A:p.E4397E 0.2 0.035 0.18 0.35 0.19 0.31 0.1993 0.0568 0.1703 0.3529 0.2174 0.1823 0.2081 0.2899 0.14 0.062 0.19 0.18 0.14 rs2009923 COSM3746785;COSM3746784 1(haematopoietic_and_lymphoid_tissue);1(liver);2(large_intestine) Benign not_specified RCV000041736.5 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2029 0.0535 0.1758 0.2214 0.3515 0.2079 0.1837 0.1895 0.2860 0.1561 0.0540 0.1838 0.2020 0.3408 0.2116 0.1795 0.1670 het 966.35 84 1 215848062 . C T 966.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.595;DP=84;Dels=0.00;FS=1.785;HRun=1;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;MQRankSum=-0.018;QD=11.50;ReadPosRankSum=-1.721;VQSLOD=6.2387;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,37:84:99:996,0,1336 1 215848587 215848587 T C exonic USH2A synonymous SNV USH2A:NM_206933:exon63:c.A12666G:p.T4222T 0.3 0.18 0.45 0.32 0.37 0.28 0.3651 0.2145 0.4779 0.3201 0.3969 0.3866 0.3642 0.3047 0.33 0.22 0.39 0.28 0.33 rs2797234 COSM146764;COSM4415364 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) Benign not_specified RCV000041726.5 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3704 0.2137 0.4701 0.3199 0.3267 0.4011 0.3857 0.3771 0.3016 0.3488 0.2163 0.4308 0.3212 0.3261 0.4090 0.4076 0.3898 het 1533.46 124 1 215848587 . T C 1533.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.679;DP=124;Dels=0.00;FS=5.749;HRun=0;HaplotypeScore=0.8667;MQ=59.65;MQ0=0;MQRankSum=0.954;QD=12.37;ReadPosRankSum=-0.278;VQSLOD=5.8535;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,58:124:99:1563,0,1692 1 215848641 215848641 T C exonic USH2A synonymous SNV USH2A:NM_206933:exon63:c.A12612G:p.T4204T 0.69 0.61 0.8 0.64 0.81 0.64 0.7662 0.6324 0.8208 0.6468 0.7380 0.8137 0.7804 0.6925 0.75 0.64 0.81 0.59 0.8 rs2797235 COSM146765 1(stomach) Benign\x2cBenign not_specified\x2cnot_specified RCV000152568.2\x2cRCV000154669.2 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7673 0.6274 0.8081 0.7964 0.6486 0.7476 0.8129 0.7922 0.6955 0.7443 0.6261 0.7995 0.8013 0.6549 0.7467 0.8144 0.7984 het 2171.53 150 1 215848641 . T C 2171.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.185;DP=150;Dels=0.00;FS=2.968;HRun=0;HaplotypeScore=3.8584;MQ=59.88;MQ0=0;MQRankSum=2.552;QD=14.48;ReadPosRankSum=0.596;VQSLOD=4.6406;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,88:150:99:2202,0,1603 1 215914826 215914826 T C exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon60:c.A11602G:p.M3868V 0.16 0.2 0.2 0.084 0.24 0.074 0.1960 0.1900 0.1914 0.0988 0.2435 0.2301 0.2258 0.0954 0.22 0.19 0.23 0.12 0.17 rs35309576 COSM3735953;COSM146766 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(skin);1(prostate);2(large_intestine) Likely benign\x2cBenign not_specified\x2cnot_specified RCV000217475.1\x2cRCV000041699.5 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.917 0.085 N 1 0.090 P 0.2 0.092 N 2.69 0.123 T -0.33 0.125 N 0.04 0.049 -0.919 0.457 T 0.000 0.000 T . . . -1.535 0.016 0.002 0.521 0.046 0.020 0.060 N c -1.786 -1.818 0.957 0.283 0.487 0.133 0 -9.68 0.004 -2.259 0.013 -2.283 0.003 0.000 0.063 0.510 0.273 7.571 0.269 Fibronectin type III|Immunoglobulin-like fold . . 0.1964 0.1904 0.1995 0.2013 0.0958 0.2393 0.2293 0.2100 0.0983 0.2146 0.1904 0.1962 0.1967 0.0848 0.2488 0.2361 0.2180 het 1650.14 164 1 215914826 . T C 1650.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.854;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8537;MQ=58.47;MQ0=0;MQRankSum=0.415;QD=10.06;ReadPosRankSum=-0.171;VQSLOD=5.1511;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,67:164:99:1680,0,2415 1 215916563 215916563 G A exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon59:c.C11504T:p.T3835I 0.14 0.15 0.19 0.084 0.23 0.074 0.1918 0.1449 0.1900 0.0986 0.2433 0.2301 0.2225 0.0948 0.2 0.14 0.23 0.065 0.16 rs11120616 COSM146767;COSM3735954 1(stomach);1(skin);2(large_intestine) Benign not_specified RCV000041698.4 MedGen CN169374 . . . . . . 0.183 0.217 T 0.055 0.213 B 0.055 0.246 B 0.926 0.075 N 1.000 0.201 P 1.24 0.311 L 0.35 0.580 T -1.61 0.387 N 0.136 0.157 -1.119 0.024 T 0.000 0.000 T . . . 2.906 0.410 21.9 0.992 0.554 0.777 0.379 D c -0.115 0.044 0.020 0.133 0.487 0.133 0 4.94 0.645 1.358 0.335 1.048 0.713 0.921 0.317 0.963 0.446 11.574 0.499 Fibronectin type III|Immunoglobulin-like fold . . 0.1923 0.1401 0.1966 0.2008 0.0948 0.2393 0.2286 0.2080 0.0973 0.1952 0.1387 0.1938 0.1954 0.0824 0.2410 0.2291 0.2107 het 2230.40 181 1 215916563 . G A 2230.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.231;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.0110;MQ=59.12;MQ0=0;MQRankSum=-0.556;QD=12.32;ReadPosRankSum=0.848;VQSLOD=6.3330;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,90:181:99:2260,0,2384 1 215960167 215960167 T G exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon52:c.A10232C:p.E3411A 0.59 0.71 0.49 0.65 0.54 0.49 0.5469 0.6816 0.5730 0.6404 0.5615 0.5209 0.5684 0.4927 0.57 0.67 0.52 0.56 0.55 rs10864198 COSM3750863;COSM3750864 1(prostate);1(large_intestine) Benign\x2cBenign not_specified\x2cnot_specified RCV000154357.1\x2cRCV000041665.8 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.445 N 1.000 0.090 P -1.955 0.002 N 3.21 0.071 T 2.31 0.003 N 0.156 0.186 -0.970 0.372 T 0.000 0.000 T . . . 0.031 0.097 2.889 0.138 0.003 0.023 0.065 N c -1.155 -0.923 0.100 0.164 0.487 0.133 0 4.88 0.630 2.959 0.486 0.136 0.221 0.998 0.411 0.007 0.100 13.071 0.583 Fibronectin type III ENSG00000082482.9 Muscle_Skeletal 0.5476 0.6846 0.5756 0.5351 0.6340 0.5502 0.5222 0.5548 0.4938 0.5802 0.6839 0.5634 0.5596 0.6160 0.5628 0.5246 0.5316 hom 2317.90 70 1 215960167 . T G 2317.90 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.63;MQ0=0;QD=33.11;VQSLOD=8.5068;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2351,190,0 1 216172380 216172380 A G exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon34:c.T6506C:p.I2169T 0.59 0.42 0.65 0.83 0.5 0.64 0.5567 0.4328 0.6918 0.8351 0.5782 0.5039 0.5308 0.6011 0.48 0.44 0.5 0.54 0.53 rs10864219 COSM3750868;COSM3750867 1(pancreas);1(large_intestine) Benign not_specified RCV000041888.5 MedGen CN169374 . . . . . . 0.239 0.177 T 0.094 0.238 B 0.016 0.166 B 0.589 0.111 N 1.000 0.206 P 0.895 0.225 L 0.66 0.524 T -1.31 0.328 N 0.074 0.064 -0.984 0.342 T 0.000 0.000 T . . . 2.011 0.303 16.28 0.936 0.228 0.924 0.553 D c -0.420 -0.181 0.001 0.086 0.487 0.133 0 5.77 0.910 2.365 0.436 1.088 0.866 0.983 0.354 0.651 0.299 11.547 0.498 Fibronectin type III|Immunoglobulin-like fold . . 0.5625 0.4323 0.6702 0.4907 0.8396 0.5748 0.4995 0.5546 0.5976 0.5129 0.4312 0.6502 0.4934 0.82 0.5762 0.5029 0.5502 het 868.62 72 1 216172380 . A G 868.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.825;DP=72;Dels=0.00;FS=1.992;HRun=0;HaplotypeScore=0.8321;MQ=58.41;MQ0=1;MQRankSum=-0.478;QD=12.06;ReadPosRankSum=-0.259;VQSLOD=5.8255;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,33:72:99:899,0,947 1 216219781 216219781 A G exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon32:c.T6317C:p.I2106T 0.6 0.8 0.47 0.45 0.66 0.5 0.6069 0.7653 0.3286 0.4430 0.6476 0.6715 0.6211 0.5092 0.7 0.76 0.67 0.54 0.75 rs6657250 COSM5008340;COSM146769 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign\x2cBenign not_specified\x2cnot_specified RCV000154356.2\x2cRCV000154111.3 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.162 0.176 N 1 0.090 P -1.85 0.003 N 0.78 0.494 T 1.96 0.004 N 0.06 0.054 -0.969 0.374 T 0.000 0.000 T . . . 0.402 0.133 6.630 0.641 0.072 0.035 0.086 N c -0.845 -0.593 1.000 0.418 0.487 0.133 0 5.42 0.786 1.260 0.324 0.138 0.222 0.788 0.293 0.786 0.332 5.369 0.153 Fibronectin type III|Immunoglobulin-like fold . . 0.5940 0.7711 0.3509 0.6798 0.4395 0.6481 0.6711 0.6152 0.5076 0.6759 0.7590 0.4305 0.7252 0.4381 0.6447 0.6750 0.6405 het 1166.23 72 1 216219781 . A G 1166.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.926;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;MQRankSum=0.229;QD=16.20;ReadPosRankSum=-0.698;VQSLOD=6.3948;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,46:72:99:1196,0,617 1 216348764 216348764 C T exonic USH2A nonsynonymous SNV USH2A:NM_007123:exon21:c.G4457A:p.R1486K,USH2A:NM_206933:exon21:c.G4457A:p.R1486K 0.66 0.55 0.7 0.78 0.61 0.71 0.6580 0.5770 0.7430 0.7839 0.7092 0.6247 0.6788 0.6972 0.61 0.6 0.61 0.64 0.62 rs1805049 COSM3746790;COSM3746789;COSM3746788 1(liver);1(large_intestine) Benign\x2cBenign not_specified\x2cnot_specified RCV000154339.2\x2cRCV000154668.1 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 0.416 0.099 T 0.118 0.250 B 0.031 0.206 B 0.332 0.141 U 1 0.090 P 2.25 0.640 M 0.61 0.535 T -0.16 0.095 N 0.052 0.130 -1.017 0.247 T 0.000 0.000 T . . . 0.348 0.127 6.144 0.898 0.185 0.032 0.081 N c -0.865 -0.907 0.000 0.035 0.487 0.133 0 -2.24 0.065 -1.524 0.023 0.029 0.149 0.000 0.063 0.275 0.232 1.701 0.027 Fibronectin type III|Immunoglobulin-like fold . . 0.6608 0.5800 0.7184 0.5779 0.7802 0.7196 0.6226 0.6308 0.6987 0.6392 0.5818 0.7069 0.6258 0.7557 0.7133 0.6369 0.6786 hom 1759.67 58 1 216348764 . C T 1759.67 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.777;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9325;MQ=59.60;MQ0=0;MQRankSum=0.000;QD=30.34;ReadPosRankSum=1.015;VQSLOD=9.2173;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,57:58:99:1793,107,0 1 216592003 216592003 T C exonic USH2A synonymous SNV USH2A:NM_007123:exon3:c.A504G:p.T168T,USH2A:NM_206933:exon3:c.A504G:p.T168T 0.63 0.45 0.66 0.82 0.66 0.63 0.6485 0.4936 0.6990 0.8390 0.6892 0.6462 0.6542 0.6039 0.6 0.51 0.64 0.56 0.61 rs4253963 . . Benign|Benign|Benign not_specified|Retinitis_pigmentosa-deafness_syndrome|Retinitis_Pigmentosa\x2c_Recessive RCV000041854.4|RCV000260536.1|RCV000332187.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0271097:500004:ORPHA886:57838006|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6525 0.4917 0.6959 0.5697 0.8402 0.6935 0.6474 0.6230 0.6004 0.6268 0.5034 0.6679 0.5833 0.8352 0.6936 0.6573 0.6599 hom 2586.53 92 1 216592003 . T C 2586.53 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.71;MQ0=0;QD=28.11;VQSLOD=8.3564;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2620,208,0 1 216595306 216595306 C T exonic USH2A nonsynonymous SNV USH2A:NM_007123:exon2:c.G373A:p.A125T,USH2A:NM_206933:exon2:c.G373A:p.A125T 0.76 0.76 0.71 0.81 0.73 0.77 0.7293 0.7527 0.7321 0.8348 0.7712 0.7059 0.7368 0.7349 0.72 0.76 0.7 0.73 0.75 rs10779261 . . Benign|Benign|Benign not_specified|Retinitis_pigmentosa-deafness_syndrome|Retinitis_Pigmentosa\x2c_Recessive RCV000041833.5|RCV000291734.1|RCV000344307.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0271097:500004:ORPHA886:57838006|CN239466 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.681 0.102 N 1 0.090 P -1.935 0.002 N -0.1 0.643 T 0.59 0.026 N 0.009 0.003 -0.961 0.391 T 0.000 0.000 T . . . 0.028 0.096 2.856 0.299 0.016 0.006 0.028 N c -1.546 -1.443 0.000 0.044 0.487 0.133 0 -1.4 0.085 0.358 0.198 -0.254 0.089 0.039 0.207 0.053 0.166 0.874 0.011 Concanavalin A-like lectin/glucanase domain . . 0.7286 0.7556 0.7318 0.6581 0.8374 0.7738 0.7052 0.6908 0.7319 0.7398 0.7588 0.7213 0.6854 0.8346 0.7649 0.7147 0.7429 hom 2323.56 78 1 216595306 . C T 2323.56 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;QD=29.79;VQSLOD=8.5434;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2357,196,0 1 216692669 216692669 C T exonic ESRRG synonymous SNV ESRRG:NM_001243505:exon6:c.G204A:p.S68S,ESRRG:NM_001243506:exon6:c.G402A:p.S134S,ESRRG:NM_001243514:exon6:c.G888A:p.S296S,ESRRG:NM_001438:exon6:c.G957A:p.S319S,ESRRG:NM_001243507:exon7:c.G771A:p.S257S,ESRRG:NM_001243511:exon7:c.G888A:p.S296S,ESRRG:NM_001243513:exon7:c.G888A:p.S296S,ESRRG:NM_001243518:exon7:c.G993A:p.S331S,ESRRG:NM_206595:exon7:c.G888A:p.S296S,ESRRG:NM_001134285:exon8:c.G888A:p.S296S,ESRRG:NM_001243509:exon8:c.G888A:p.S296S,ESRRG:NM_001243510:exon8:c.G888A:p.S296S,ESRRG:NM_001243512:exon8:c.G888A:p.S296S,ESRRG:NM_001243515:exon8:c.G888A:p.S296S,ESRRG:NM_001243519:exon8:c.G888A:p.S296S,ESRRG:NM_001350123:exon8:c.G888A:p.S296S,ESRRG:NM_001350125:exon8:c.G888A:p.S296S,ESRRG:NM_206594:exon8:c.G888A:p.S296S,ESRRG:NM_001350122:exon9:c.G888A:p.S296S,ESRRG:NM_001350124:exon9:c.G888A:p.S296S 0.63 0.73 0.64 0.74 0.43 0.59 0.5030 0.6727 0.6335 0.7183 0.3831 0.4178 0.5121 0.5843 0.5 0.66 0.41 0.66 0.36 rs945453 COSM3746795;COSM3746794 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5040 0.6745 0.6387 0.6001 0.7210 0.3795 0.4009 0.5059 0.5834 0.4977 0.6666 0.5909 0.5867 0.7181 0.3986 0.3946 0.4593 het 291.22 63 1 216692669 . C T 291.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.073;DP=63;Dels=0.00;FS=4.351;HRun=0;HaplotypeScore=0.9469;MQ=59.19;MQ0=0;MQRankSum=0.040;QD=4.62;ReadPosRankSum=0.670;VQSLOD=4.0378;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,15:63:99:321,0,1290 1 217947738 217947738 G A exonic SPATA17 synonymous SNV SPATA17:NM_138796:exon7:c.G582A:p.Q194Q 0.73 0.69 0.68 0.73 0.81 0.73 0.7737 0.6969 0.6469 0.7615 0.9043 0.8073 0.7841 0.7285 0.77 0.71 0.8 0.75 0.82 rs6604561 COSM4419273 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7707 0.6985 0.6491 0.6971 0.7662 0.9095 0.8091 0.7626 0.7266 0.7887 0.7022 0.6890 0.6533 0.7701 0.9089 0.8192 0.8200 hom 3666.62 125 1 217947738 . G A 3666.62 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.82;MQ0=0;QD=29.33;VQSLOD=8.7549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3666,277,0 1 219383905 219383905 A G exonic LYPLAL1 nonsynonymous SNV LYPLAL1:NM_001300769:exon3:c.A240G:p.I80M,LYPLAL1:NM_001300770:exon4:c.A345G:p.I115M,LYPLAL1:NM_001300771:exon4:c.A279G:p.I93M,LYPLAL1:NM_001300772:exon4:c.A279G:p.I93M,LYPLAL1:NM_138794:exon4:c.A393G:p.I131M,LYPLAL1:NM_001350628:exon5:c.A420G:p.I140M,LYPLAL1:NM_001350629:exon5:c.A372G:p.I124M 0.96 0.86 1. 1. 1. 1. 0.9895 0.8864 0.9937 1 1 0.9998 0.9967 0.9999 0.96 0.9 1. 0.89 1. rs940570 . . . . . . . . . . . . . 0.598 0.057 T 0.0 0.026 B 0.0 0.040 B 0.000 0.537 N 1.000 0.195 P -0.95 0.013 N 1.9 0.235 T 1.29 0.010 N 0.058 0.344 -0.954 0.403 T 0.000 0.000 T . . . 1.779 0.275 14.86 0.855 0.154 0.130 0.174 N c -0.526 -0.256 1.000 0.517 0.706 0.609 0 4.09 0.469 2.211 0.422 0.138 0.222 1.000 0.715 0.999 0.750 11.965 0.521 Alpha/Beta hydrolase fold|Phospholipase/carboxylesterase/thioesterase . . 0.9917 0.8830 0.9941 0.9999 0.9999 1 0.9997 0.9956 0.9998 0.9669 0.8841 0.9964 1 1 1 0.9997 0.9939 hom 1751.10 59 1 219383905 . A G 1751.10 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.49;MQ0=0;QD=29.68;VQSLOD=8.2264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1784,141,0 1 220193423 220193423 T C exonic EPRS nonsynonymous SNV EPRS:NM_004446:exon10:c.A1256G:p.Y419C 0.0044 0.0008 0.0058 . 0.013 0.0041 0.0152 0.0024 0.0029 0 0.0414 0.0218 0.0132 0.0028 0.015 0.0032 0.022 0.022 0.0082 rs114015346 . . . . . . . . . . . . . 0.012 0.546 D 0.996 0.715 D 0.926 0.651 D 0.000 0.537 D 1 0.810 D 3.245 0.900 M 1.85 0.245 T -6.27 0.906 D 0.4 0.459 -0.775 0.566 T 0.105 0.384 T . . . 5.560 0.756 26.4 0.998 0.853 0.971 0.723 D c 0.701 0.641 0.828 0.246 0.732 0.924 0 4.68 0.582 5.747 0.681 1.061 0.807 1.000 0.715 1.000 0.888 12.337 0.542 Glutamyl/glutaminyl-tRNA synthetase\x2c class Ib\x2c catalytic domain|Rossmann-like alpha/beta/alpha sandwich fold . . 0.0154 0.0022 0.0029 0.0096 0 0.0455 0.0215 0.0117 0.0027 0.0180 0.0034 0.0072 0.0066 0 0.0495 0.0216 0.0224 het 2008.11 166 1 220193423 . T C 2008.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.592;DP=166;Dels=0.00;FS=3.611;HRun=0;HaplotypeScore=2.9808;MQ=59.61;MQ0=0;MQRankSum=-1.369;QD=12.10;ReadPosRankSum=0.928;VQSLOD=4.7346;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,75:166:99:2038,0,2412 1 220197625 220197625 G T exonic EPRS nonsynonymous SNV EPRS:NM_004446:exon8:c.C924A:p.D308E 0.9 0.99 0.87 0.94 0.79 0.86 0.8450 0.9683 0.9226 0.9329 0.8120 0.8041 0.8211 0.8458 0.86 0.96 0.81 0.91 0.78 rs2230301 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 1.000 0.182 P -0.695 0.019 N 2.05 0.207 T 1.23 0.010 N 0.048 0.029 -0.988 0.331 T 0.000 0.000 T . . . -0.407 0.061 0.372 0.213 0.008 0.234 0.219 N c -1.262 -1.105 0.000 0.048 0.732 0.924 0 -1.6 0.079 0.344 0.196 0.114 0.208 0.996 0.391 0.993 0.574 7.245 0.251 Glutamyl/glutaminyl-tRNA synthetase\x2c class Ib\x2c catalytic domain . . 0.8416 0.9707 0.9105 0.7418 0.9344 0.8174 0.8055 0.8303 0.8371 0.8664 0.9683 0.9010 0.7185 0.9353 0.8185 0.8145 0.8248 het 696.16 70 1 220197625 . G T 696.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.534;DP=70;Dels=0.00;FS=2.331;HRun=1;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;MQRankSum=-0.181;QD=9.95;ReadPosRankSum=0.109;VQSLOD=6.5520;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,27:70:99:726,0,1185 1 220330672 220330672 C T exonic RAB3GAP2 synonymous SNV RAB3GAP2:NM_012414:exon31:c.G3495A:p.L1165L 0.06 0.0076 0.052 0.05 0.088 0.12 0.0876 0.0174 0.0448 0.0575 0.0753 0.0996 0.0980 0.1334 0.069 0.022 0.094 0.076 0.11 rs11547779 COSM3750881 1(large_intestine) other|Likely benign|Likely benign not_specified|Warburg_micro_syndrome|Martsolf_syndrome RCV000118107.3|RCV000276331.1|RCV000331360.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet CN169374|CN158709:ORPHA2510|C0796037:212720:ORPHA1387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0867 0.0150 0.0476 0.1430 0.0573 0.0780 0.0970 0.0801 0.1336 0.0694 0.0146 0.0443 0.1589 0.0545 0.0770 0.0991 0.0949 het 1195.72 98 1 220330672 . C T 1195.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.029;DP=98;Dels=0.00;FS=0.871;HRun=0;HaplotypeScore=2.8922;MQ=58.76;MQ0=0;MQRankSum=0.345;QD=12.20;ReadPosRankSum=-1.740;VQSLOD=5.9621;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,46:98:99:1226,0,1553 1 220331205 220331205 C G exonic RAB3GAP2 nonsynonymous SNV RAB3GAP2:NM_012414:exon30:c.G3275C:p.S1092T 0.06 0.0076 0.052 0.049 0.088 0.12 0.0895 0.0179 0.0439 0.0584 0.0770 0.1018 0.1 0.1380 0.069 0.022 0.094 0.076 0.09 rs2289189 COSM3750882 1(large_intestine) other|Likely benign|Likely benign not_specified|Martsolf_syndrome|Warburg_micro_syndrome RCV000118106.3|RCV000318653.1|RCV000373355.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C0796037:212720:ORPHA1387|CN158709:ORPHA2510 . . . . . . 0.138 0.258 T 0.989 0.609 D 0.856 0.592 P 0.000 0.843 D 0.000 0.548 P 2.455 0.715 M 1.13 0.386 T -1.9 0.443 N 0.189 0.231 -1.156 0.009 T 0.012 0.046 T . . . 5.711 0.779 26.8 0.995 0.696 0.994 0.957 D c 0.711 0.728 1.000 0.747 0.757 0.989 0 5.59 0.846 7.356 0.785 0.876 0.383 1.000 0.715 0.998 0.697 19.589 0.955 Rab3GAP regulatory subunit\x2c C-terminal . . 0.0860 0.0150 0.0453 0.1426 0.0572 0.0781 0.0963 0.0800 0.1334 0.0693 0.0146 0.0443 0.1589 0.0532 0.0770 0.0990 0.0949 het 526.18 38 1 220331205 . C G 526.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.155;DP=38;Dels=0.00;FS=2.826;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=2.061;QD=13.85;ReadPosRankSum=0.629;VQSLOD=5.1612;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:556,0,498 1 220970028 220970028 A G exonic MARC1 nonsynonymous SNV MARC1:NM_022746:exon3:c.A493G:p.T165A 0.81 0.95 0.78 0.77 0.72 0.78 0.7542 0.9231 0.8378 0.7948 0.7153 0.7076 0.7334 0.7731 0.78 0.92 0.7 0.77 0.75 rs2642438 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.001 0.439 N 1 0.090 P -2.575 0.000 N 1.97 0.221 T 2.42 0.003 N 0.344 0.405 -0.972 0.369 T 0.000 0.000 T . . . -0.771 0.042 0.050 0.235 0.010 0.035 0.085 N c -1.250 -1.067 0.727 0.230 0.744 0.983 0 3.91 0.442 3.907 0.558 0.138 0.222 0.695 0.283 0.005 0.090 10.917 0.462 MOSC\x2c N-terminal beta barrel . . 0.7518 0.9248 0.8291 0.6782 0.7931 0.7152 0.7080 0.7319 0.7741 0.7705 0.9207 0.8094 0.7033 0.7972 0.7068 0.6977 0.7173 hom 1914.62 69 1 220970028 . A G 1914.62 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.67;MQ0=0;QD=27.75;VQSLOD=7.3806;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:1948,162,0 1 221053545 221053545 T C exonic HLX nonsynonymous SNV HLX:NM_021958:exon1:c.T346C:p.S116P 0.21 0.17 0.28 0.23 0.25 0.16 0.2416 0.1915 0.3433 0.2280 0.3224 0.2358 0.2362 0.2000 0.21 0.19 0.22 0.15 0.15 rs12141189 COSM425363 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.086 0.326 T 0.048 0.207 B 0.023 0.188 B 0.001 0.389 N 0.179 0.348 P 1.5 0.380 L 1.36 0.344 T -1.26 0.318 N 0.067 0.054 -0.957 0.397 T 0.000 0.000 T . . . 2.388 0.348 18.74 0.998 0.846 0.507 0.285 D c -0.478 -0.315 1.000 0.747 0.496 0.176 0 3.44 0.383 1.019 0.294 1.061 0.807 0.951 0.329 0.980 0.490 7.655 0.274 . ENSG00000238078.1|ENSG00000221571.2|ENSG00000272823.1|ENSG00000238078.1|ENSG00000257551.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Muscle_Skeletal 0.2445 0.1880 0.3271 0.1747 0.2283 0.3057 0.2371 0.2198 0.2001 0.2356 0.1915 0.2943 0.2020 0.2463 0.3046 0.2389 0.2724 het 508.56 42 1 221053545 . T C 508.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.226;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7218;MQ=60.00;MQ0=0;MQRankSum=0.730;QD=12.11;ReadPosRankSum=-1.409;VQSLOD=5.5036;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,21:42:99:539,0,566 1 221057646 221057646 C T exonic HLX nonsynonymous SNV HLX:NM_021958:exon4:c.C1067T:p.P356L 0.3 0.47 0.29 0.095 0.34 0.24 0.3164 0.4431 0.2645 0.0658 0.3615 0.3484 0.3472 0.2572 0.38 0.43 0.35 0.45 0.34 rs2738755 COSM3746803 1(liver);1(skin);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.007 0.599 D 0.069 0.223 B 0.007 0.121 B 0.628 0.107 N 1.000 0.090 P 1.67 0.430 L -0.21 0.663 T -0.84 0.229 N 0.004 0.137 -0.965 0.383 T 0.000 0.000 T . . . 2.654 0.380 20.5 0.975 0.338 0.597 0.307 D c -0.913 -0.946 0.998 0.358 0.672 0.522 0 2.02 0.255 0.613 0.238 0.920 0.431 0.000 0.063 0.001 0.043 7.008 0.239 . ENSG00000238078.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000238078.1|ENSG00000257551.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000272823.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000272823.1|ENSG00000238078.1|ENSG00000238078.1|ENSG00000272823.1|ENSG00000238078.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Thyroid 0.3123 0.4431 0.2717 0.4501 0.0574 0.3607 0.3393 0.3430 0.2539 0.3561 0.4448 0.3074 0.4161 0.0525 0.3613 0.3394 0.3316 het 406.06 36 1 221057646 . C T 406.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.995;DP=36;Dels=0.00;FS=3.012;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.353;QD=11.28;ReadPosRankSum=0.385;VQSLOD=6.4782;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:36:99:436,0,557 1 221057662 221057662 G A exonic HLX synonymous SNV HLX:NM_021958:exon4:c.G1083A:p.E361E 0.19 0.26 0.18 0.094 0.18 0.2 0.1851 0.2425 0.1494 0.0651 0.2459 0.1905 0.1862 0.1923 0.21 0.23 0.2 0.29 0.16 rs3738182 COSM3746804 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1833 0.2381 0.1560 0.2271 0.0572 0.2477 0.1861 0.1679 0.1894 0.2048 0.2360 0.1766 0.21 0.0525 0.2504 0.1939 0.2065 het 376.83 35 1 221057662 . G A 376.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.450;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.34;MQ0=0;MQRankSum=0.850;QD=10.77;ReadPosRankSum=-0.117;VQSLOD=6.4834;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,15:35:99:407,0,558 1 221912361 221912361 T C exonic DUSP10 synonymous SNV DUSP10:NM_007207:exon2:c.A726G:p.E242E 0.72 0.83 0.68 0.67 0.64 0.73 0.6737 0.8266 0.6793 0.6839 0.5901 0.6500 0.6487 0.6985 0.71 0.82 0.65 0.72 0.61 rs1141714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6706 0.8276 0.6745 0.6466 0.6858 0.5836 0.6576 0.6484 0.7015 0.6905 0.8289 0.6591 0.63 0.6922 0.5788 0.6418 0.6452 hom 4492.41 135 1 221912361 . T C 4492.41 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2011;MQ=58.61;MQ0=0;QD=33.28;VQSLOD=7.4068;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4492,358,0 1 221912808 221912808 T C exonic DUSP10 synonymous SNV DUSP10:NM_007207:exon2:c.A279G:p.Q93Q 0.34 0.096 0.42 0.45 0.38 0.48 0.3899 0.1372 0.3794 0.4721 0.3239 0.4113 0.4027 0.4527 0.32 0.14 0.41 0.32 0.34 rs1136448 COSM3750892 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3921 0.1329 0.3777 0.4122 0.4697 0.3173 0.4159 0.3860 0.4558 0.3243 0.1433 0.3971 0.4205 0.4727 0.3147 0.4068 0.3735 het 742.59 88 1 221912808 . T C 742.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.690;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1423;MQ=60.00;MQ0=0;MQRankSum=0.807;QD=8.44;ReadPosRankSum=0.167;VQSLOD=2.7988;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,35:88:99:773,0,1392 1 222713501 222713501 C A exonic HHIPL2 nonsynonymous SNV HHIPL2:NM_024746:exon4:c.G1301T:p.R434L 0.086 0.16 0.078 0.045 0.093 0.024 0.0699 0.1533 0.0332 0.0472 0.0587 0.0793 0.0474 0.0226 0.11 0.15 0.083 0.043 0.057 rs3748663 COSM4143368 1(thyroid) . . . . . . . . . . . 0.103 0.301 T 0.173 0.271 B 0.231 0.366 B 0.833 0.091 N 1 0.090 P 1.525 0.387 L 2.5 0.144 T -3.15 0.641 D 0.113 0.123 -0.936 0.433 T 0.000 0.001 T . . . 0.625 0.154 8.325 0.915 0.201 0.072 0.130 N c -1.411 -1.519 0.178 0.178 0.554 0.246 0 -5.87 0.021 -0.665 0.053 -2.733 0.002 0.000 0.063 0.160 0.208 9.509 0.380 Glucose/Sorbosone dehydrogenase|Six-bladed beta-propeller\x2c TolB-like|Soluble quinoprotein glucose/sorbosone dehydrogenase ENSG00000143512.8 Thyroid 0.0677 0.1570 0.0382 0.0660 0.0483 0.0581 0.0818 0.0667 0.0228 0.0911 0.1462 0.0573 0.0430 0.0425 0.0612 0.0756 0.0682 het 1919.15 132 1 222713501 . C A 1919.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.788;DP=132;Dels=0.00;FS=1.456;HRun=0;HaplotypeScore=3.6019;MQ=59.48;MQ0=0;MQRankSum=1.712;QD=14.54;ReadPosRankSum=0.065;VQSLOD=5.6632;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,75:132:99:1949,0,1373 1 222713621 222713621 C T exonic HHIPL2 nonsynonymous SNV HHIPL2:NM_024746:exon4:c.G1181A:p.R394Q 0.086 0.16 0.078 0.045 0.092 0.024 0.0691 0.1508 0.0332 0.0472 0.0526 0.0788 0.0474 0.0226 0.1 0.14 0.083 0.043 0.057 rs3748665 . . . . . . . . . . . . . 0.573 0.061 T 0.064 0.220 B 0.015 0.162 B 0.073 0.213 N 0.933 0.270 P 0.47 0.131 N 2.7 0.122 T 0.18 0.050 N 0.039 0.019 -0.941 0.425 T 0.000 0.000 T . . . 2.140 0.318 17.12 0.904 0.190 0.126 0.172 N c -1.030 -0.984 0.189 0.180 0.487 0.133 0 1.79 0.239 0.085 0.146 0.892 0.403 0.006 0.172 0.824 0.344 4.863 0.129 Glucose/Sorbosone dehydrogenase|Six-bladed beta-propeller\x2c TolB-like|Soluble quinoprotein glucose/sorbosone dehydrogenase ENSG00000143512.8 Thyroid 0.0669 0.1544 0.0382 0.0660 0.0480 0.0528 0.0816 0.0649 0.0228 0.0898 0.1442 0.0573 0.0430 0.0425 0.0567 0.0754 0.0662 het 1621.33 146 1 222713621 . C T 1621.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.320;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6593;MQ=59.43;MQ0=0;MQRankSum=0.499;QD=11.11;ReadPosRankSum=0.000;VQSLOD=4.5579;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,67:146:99:1651,0,2029 1 222802006 222802006 A G exonic MIA3 nonsynonymous SNV MIA3:NM_001324062:exon4:c.A1444G:p.K482E,MIA3:NM_001324063:exon4:c.A1444G:p.K482E,MIA3:NM_198551:exon4:c.A1444G:p.K482E,MIA3:NM_001324064:exon5:c.A952G:p.K318E 1. 0.98 1. 1. 1. 1. 0.9983 0.9800 0.9996 1 1 1.0000 0.9989 1 0.99 0.98 1. 1. 0.74 rs2936053 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.33 0.001 N 1.03 0.405 T 1.85 0.005 N 0.004 0.244 -0.991 0.325 T 0.000 0.000 T . . . -0.559 0.052 0.157 0.221 0.009 0.004 0.021 N c -1.553 -1.424 0.061 0.152 0.732 0.924 0 1.63 0.228 1.277 0.326 0.104 0.200 0.002 0.151 0.003 0.074 6.831 0.229 . . . 0.9987 0.9806 0.9993 1 1 1 1.0000 0.9995 0.9999 0.9943 0.9801 1 1 1 1 0.9999 0.9990 hom 7887.21 232 1 222802006 . A G 7887.21 Mask AC=2;AF=1.00;AN=2;DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6900;MQ=59.82;MQ0=0;QD=34.00;VQSLOD=8.5114;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,232:232:99:7887,608,0 1 222802803 222802803 T G exonic MIA3 synonymous SNV MIA3:NM_001324062:exon4:c.T2241G:p.P747P,MIA3:NM_001324063:exon4:c.T2241G:p.P747P,MIA3:NM_198551:exon4:c.T2241G:p.P747P,MIA3:NM_001324064:exon5:c.T1749G:p.P583P 0.51 0.25 0.51 0.58 0.73 0.55 0.6337 0.2961 0.4635 0.5816 0.7461 0.7142 0.6804 0.6059 0.59 0.31 0.71 0.52 0.67 rs3748626 COSM146781 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6336 0.2937 0.4767 0.7117 0.5773 0.7421 0.7144 0.6418 0.6085 0.5893 0.3062 0.5191 0.7053 0.6073 0.7282 0.7151 0.6861 het 917.90 71 1 222802803 . T G 917.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.582;DP=71;Dels=0.00;FS=4.702;HRun=3;HaplotypeScore=1.8857;MQ=60.00;MQ0=0;MQRankSum=-0.178;QD=12.93;ReadPosRankSum=-0.443;VQSLOD=5.6723;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,36:71:99:948,0,1012 1 222802926 222802926 C T exonic MIA3 synonymous SNV MIA3:NM_001324062:exon4:c.C2364T:p.S788S,MIA3:NM_001324063:exon4:c.C2364T:p.S788S,MIA3:NM_198551:exon4:c.C2364T:p.S788S,MIA3:NM_001324064:exon5:c.C1872T:p.S624S 0.8 0.57 0.9 0.89 0.9 0.85 0.8685 0.5962 0.9432 0.8872 0.9253 0.8912 0.9118 0.8503 0.8 0.61 0.88 0.74 0.88 rs3008620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8757 0.5920 0.9421 0.8970 0.8833 0.9255 0.8872 0.8888 0.8522 0.8100 0.6030 0.9260 0.9040 0.8673 0.9253 0.8840 0.8806 het 543.16 78 1 222802926 . C T 543.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.438;DP=78;Dels=0.00;FS=3.408;HRun=0;HaplotypeScore=2.4947;MQ=59.44;MQ0=0;MQRankSum=0.525;QD=6.96;ReadPosRankSum=0.244;VQSLOD=5.2618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,24:78:99:573,0,1387 1 222833538 222833538 C G exonic MIA3 synonymous SNV MIA3:NM_001300867:exon19:c.C1629G:p.G543G,MIA3:NM_001324065:exon19:c.C1629G:p.G543G,MIA3:NM_001324063:exon22:c.C4818G:p.G1606G,MIA3:NM_001324062:exon24:c.C4995G:p.G1665G,MIA3:NM_198551:exon24:c.C4995G:p.G1665G,MIA3:NM_001324064:exon25:c.C4503G:p.G1501G 0.13 0.087 0.13 0.16 0.2 0.069 0.1544 0.0924 0.0900 0.1448 0.1403 0.1954 0.1759 0.0798 0.16 0.087 0.19 0.13 0.21 rs2291835 COSM146783 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1555 0.0919 0.1057 0.2496 0.1442 0.1461 0.1933 0.1808 0.0817 0.1572 0.0979 0.1396 0.2550 0.1399 0.1509 0.1941 0.1571 het 740.88 55 1 222833538 . C G 740.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.313;DP=55;Dels=0.00;FS=1.079;HRun=2;HaplotypeScore=0.0000;MQ=58.32;MQ0=0;MQRankSum=0.803;QD=13.47;ReadPosRankSum=0.025;VQSLOD=5.2940;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,30:55:99:771,0,695 1 222833601 222833601 T C exonic MIA3 synonymous SNV MIA3:NM_001300867:exon19:c.T1692C:p.P564P,MIA3:NM_001324065:exon19:c.T1692C:p.P564P,MIA3:NM_001324063:exon22:c.T4881C:p.P1627P,MIA3:NM_001324062:exon24:c.T5058C:p.P1686P,MIA3:NM_198551:exon24:c.T5058C:p.P1686P,MIA3:NM_001324064:exon25:c.T4566C:p.P1522P 0.99 0.98 1. 1. 1. 1. 0.9982 0.9799 0.9995 1 1 0.9998 0.9989 1 0.99 0.98 1. 1. 1. rs3002153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9803 0.9993 1 1 1.0000 0.9998 0.9995 0.9999 0.9941 0.9796 1 1 1 1 0.9997 0.9990 hom 1662.38 57 1 222833601 . T C 1662.38 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.0999;MQ=58.36;MQ0=0;QD=29.16;VQSLOD=8.1223;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,56:57:99:1695,138,0 1 222919895 222919895 T G exonic FAM177B nonsynonymous SNV FAM177B:NM_001324080:exon2:c.T8G:p.I3S,FAM177B:NM_207468:exon3:c.T8G:p.I3S 0.59 0.24 0.74 0.77 0.7 0.66 0.6738 0.2887 0.7992 0.7725 0.7365 0.6882 0.7162 0.6903 0.55 0.3 0.68 0.55 0.7 rs2378607 . . . . . . . . . . . . . 0.088 0.335 T 0.006 0.126 B 0.007 0.121 B 0.036 0.246 N 1.000 0.210 P 0 0.065 N 0.89 0.460 T 1.53 0.009 N 0.05 0.335 -1.007 0.279 T 0.000 0.000 T . . . 0.673 0.158 8.652 0.895 0.183 0.343 0.248 N c -0.772 -0.612 0.000 0.035 0.487 0.133 0 2.3 0.276 1.356 0.335 0.075 0.182 1.000 0.715 0.513 0.273 3.742 0.080 . ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000186063.8|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000154305.12|ENSG00000272750.1|ENSG00000272750.1|ENSG00000272750.1|ENSG00000197520.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.6854 0.2793 0.7948 0.6605 0.7649 0.7317 0.6901 0.6824 0.6840 0.5872 0.2889 0.7601 0.6391 0.7738 0.7231 0.6903 0.7057 het 576.44 61 1 222919895 . T G 576.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.725;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.18;MQ0=0;MQRankSum=-1.429;QD=9.45;ReadPosRankSum=-0.441;VQSLOD=5.6534;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,23:61:99:606,0,1001 1 222923351 222923351 A G exonic FAM177B nonsynonymous SNV FAM177B:NM_001324080:exon5:c.A428G:p.Q143R,FAM177B:NM_207468:exon6:c.A428G:p.Q143R 0.79 0.75 0.85 0.8 0.83 0.76 0.8032 0.7654 0.8574 0.7926 0.8039 0.8078 0.7895 0.7752 0.8 0.77 0.81 0.85 0.84 rs6683071 COSM146785 1(stomach);3(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.66 0.021 N 1.53 0.304 T 0.25 0.045 N 0.012 0.001 -1.027 0.215 T 0.000 0.000 T . . . -2.711 0.002 0.001 0.617 0.066 0.005 0.023 N c -2.387 -2.466 1.000 0.747 0.534 0.214 0 -11.0 0.001 -2.368 0.011 -1.982 0.005 0.000 0.063 0.031 0.148 2.280 0.038 . ENSG00000186063.8|ENSG00000272750.1 Esophagus_Muscularis|Esophagus_Muscularis 0.8054 0.7631 0.8567 0.7270 0.7856 0.7999 0.8166 0.7791 0.7745 0.7997 0.7708 0.8532 0.7067 0.7942 0.7895 0.8173 0.8163 hom 2567.33 91 1 222923351 . A G 2567.33 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4905;MQ=59.24;MQ0=0;QD=28.21;VQSLOD=7.5684;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:91:99:2600,217,0 1 223176275 223176275 G A exonic DISP1 synonymous SNV DISP1:NM_001350630:exon9:c.G807A:p.V269V,DISP1:NM_032890:exon10:c.G1536A:p.V512V 0.057 0.012 0.069 . 0.14 0.085 0.1053 0.0329 0.0523 0.0001 0.1342 0.1389 0.1377 0.0939 0.11 0.04 0.15 0.054 0.15 rs61738819 COSM3750899 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1056 0.0301 0.0554 0.1227 0.0002 0.1318 0.1428 0.1116 0.0967 0.0999 0.0305 0.0622 0.1291 0.0006 0.1375 0.1425 0.1191 het 2662.95 233 1 223176275 . G A 2662.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.536;DP=233;Dels=0.00;FS=1.591;HRun=1;HaplotypeScore=3.8538;MQ=59.27;MQ0=0;MQRankSum=0.059;QD=11.43;ReadPosRankSum=-0.330;VQSLOD=5.9751;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,108:233:99:2693,0,3390 1 223178478 223178478 G A exonic DISP1 nonsynonymous SNV DISP1:NM_001350630:exon9:c.G3010A:p.A1004T,DISP1:NM_032890:exon10:c.G3739A:p.A1247T 0.07 0.015 0.094 . 0.18 0.082 0.1264 0.0388 0.0655 0.0001 0.1712 0.1705 0.1542 0.0923 0.14 0.047 0.18 0.087 0.17 rs9441940 COSM3750900 4(soft_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.506 0.076 T 0.0 0.026 B 0.0 0.013 B 0.174 0.031 N 1 0.090 P -0.895 0.014 N -2.88 0.915 D 0.47 0.031 N 0.0 0.000 -0.903 0.477 T 0.001 0.004 T . . . -2.346 0.004 0.001 0.517 0.045 0.012 0.041 N c -2.847 -2.938 1.0 0.983 0.651 0.465 0 -11.0 0.001 -3.766 0.004 -3.900 0.001 0.000 0.063 0.000 0.016 2.856 0.052 . . . 0.1273 0.0368 0.0752 0.1410 0.0002 0.1674 0.1742 0.1364 0.0953 0.1244 0.0374 0.0871 0.14 0.0012 0.1690 0.1778 0.1538 het 2878.29 249 1 223178478 . G A 2878.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.804;DP=249;DS;Dels=0.00;FS=2.499;HRun=0;HaplotypeScore=5.1176;MQ=58.73;MQ0=0;MQRankSum=-1.377;QD=11.56;ReadPosRankSum=0.563;VQSLOD=4.3549;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,109:249:99:2908,0,3612 1 223178561 223178561 A C exonic DISP1 synonymous SNV DISP1:NM_001350630:exon9:c.A3093C:p.P1031P,DISP1:NM_032890:exon10:c.A3822C:p.P1274P 0.5 0.42 0.53 0.48 0.62 0.48 0.5453 0.4482 0.5308 0.5169 0.5942 0.5783 0.5628 0.4775 0.53 0.45 0.58 0.41 0.57 rs9441941 COSM146786 1(stomach);1(thyroid) Benign not_specified RCV000249331.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5468 0.4484 0.5371 0.5563 0.5141 0.5954 0.5765 0.5657 0.4764 0.5450 0.4544 0.5263 0.5662 0.4907 0.6066 0.5908 0.5296 hom 7762.69 241 1 223178561 . A C 7762.69 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9159;MQ=58.58;MQ0=0;QD=32.21;VQSLOD=8.8212;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:7761,659,0 1 223178954 223178954 G A exonic DISP1 synonymous SNV DISP1:NM_001350630:exon9:c.G3486A:p.T1162T,DISP1:NM_032890:exon10:c.G4215A:p.T1405T 0.0058 . 0.0086 . 0.022 0.001 0.0141 0.0044 0.0053 0.0006 0.0121 0.0221 0.0187 0.0019 0.017 0.0043 0.023 0.011 0.025 rs61740997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0144 0.0039 0.0075 0.0194 0.0003 0.0126 0.0234 0.0153 0.0018 0.0142 0.0049 0.0133 0.0136 0 0.0155 0.0206 0.0145 het 1705.23 139 1 223178954 . G A 1705.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.321;DP=139;Dels=0.00;FS=0.639;HRun=0;HaplotypeScore=1.6006;MQ=59.40;MQ0=0;MQRankSum=-0.044;QD=12.27;ReadPosRankSum=0.943;VQSLOD=5.9910;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,65:139:99:1735,0,1916 1 223283910 223283910 A G exonic TLR5 nonsynonymous SNV TLR5:NM_003268:exon6:c.T2464C:p.F822L 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 1. 0.98 rs7512943 COSM4591762 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 2315.57 67 1 223283910 . A G 2315.57 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8606;MQ=58.89;MQ0=0;QD=34.56;VQSLOD=8.7499;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2349,187,0 1 223567267 223567267 C T exonic CCDC185 synonymous SNV CCDC185:NM_152610:exon1:c.C450T:p.P150P 0.087 0.11 0.068 0.13 0.04 0.08 0.0783 0.1305 0.1562 0.1343 0.0447 0.0498 0.0857 0.0867 0.06 0.1 0.037 0.033 0.057 rs6679661 COSM3750902 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0691 0.1092 0.1338 0.0290 0.1279 0.0374 0.0424 0.0599 0.0791 0.0651 0.1019 0.1169 0.0397 0.1177 0.0381 0.0426 0.0531 het 254.51 23 1 223567267 . C T 254.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.543;DP=23;Dels=0.00;FS=1.918;HRun=0;HaplotypeScore=1.7791;MQ=60.00;MQ0=0;MQRankSum=-0.661;QD=11.07;ReadPosRankSum=1.480;VQSLOD=6.0496;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,9:23:99:285,0,395 1 223567401 223567401 T C exonic CCDC185 nonsynonymous SNV CCDC185:NM_152610:exon1:c.T584C:p.V195A 0.081 0.083 0.063 0.13 0.041 0.08 0.0660 0.0791 0.1409 0.1232 0.0367 0.0429 0.0713 0.0793 0.053 0.082 0.038 0.033 0.057 rs6689850 COSM3750903 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.18 0.219 T 0.02 0.170 B 0.013 0.154 B . . . 1 0.090 P 1.1 0.281 L 1.94 0.227 T -0.32 0.123 N 0.067 0.054 -0.992 0.321 T 0.001 0.002 T . . . -0.047 0.089 2.155 0.727 0.097 0.011 0.041 N c -1.008 -1.105 0.108 0.166 0.598 0.340 0 -1.26 0.088 -0.798 0.046 0.964 0.580 0.000 0.063 0.012 0.117 0.846 0.011 . . . 0.0676 0.0812 0.1345 0.0287 0.1290 0.0369 0.0429 0.0580 0.0797 0.0575 0.0765 0.1169 0.0397 0.1157 0.0372 0.0424 0.0512 het 1620.06 171 1 223567401 . T C 1620.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DP=171;Dels=0.00;FS=4.779;HRun=0;HaplotypeScore=2.9900;MQ=59.07;MQ0=0;MQRankSum=1.071;QD=9.47;ReadPosRankSum=-1.414;VQSLOD=5.1598;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,65:171:99:1650,0,2709 1 223567531 223567531 G A exonic CCDC185 synonymous SNV CCDC185:NM_152610:exon1:c.G714A:p.P238P 0.081 0.083 0.063 0.13 0.041 0.08 0.0663 0.0799 0.1407 0.1237 0.0368 0.0431 0.0729 0.0795 0.053 0.082 0.038 0.043 0.074 rs2298063 COSM4415905 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0676 0.0814 0.1342 0.0288 0.1290 0.0369 0.0429 0.0583 0.0798 0.0576 0.0760 0.1169 0.0397 0.1184 0.0372 0.0425 0.0520 het 1122.33 92 1 223567531 . G A 1122.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.249;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=-0.623;QD=12.20;ReadPosRankSum=1.360;VQSLOD=5.8800;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,42:92:99:1152,0,1446 1 223900408 223900408 C G exonic CAPN2 nonsynonymous SNV CAPN2:NM_001748:exon1:c.C66G:p.D22E 0.99 0.95 1. 1. 1. 1. 0.9959 0.9546 0.9983 1 1 0.9998 0.9969 0.9996 0.98 0.95 1. . 0.79 rs25655 COSM4143383 4(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.869 0.088 N 1 0.258 P -0.885 0.014 N -4.24 0.970 D 0.96 0.015 N 0.009 0.024 -0.952 0.406 T 0.000 0.000 T . . . 0.573 0.149 7.967 0.783 0.118 0.009 0.034 N c -1.292 -1.163 1.000 0.747 0.726 0.872 0 2.09 0.260 0.317 0.191 -0.011 0.132 0.000 0.063 0.398 0.254 9.821 0.399 . . . 0.9972 0.9539 0.9982 0.9997 1 1 0.9999 0.9973 0.9995 0.9873 0.9557 1 1 1 1 0.9999 0.9968 hom 484.29 17 1 223900408 . C G 484.29 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.2434;MQ=60.00;MQ0=0;QD=28.49;VQSLOD=6.8392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.13:517,39,0 1 223905532 223905532 G A exonic CAPN2 synonymous SNV CAPN2:NM_001146068:exon2:c.G72A:p.L24L,CAPN2:NM_001748:exon2:c.G306A:p.L102L 0.6 0.35 0.64 0.58 0.76 0.74 0.7173 0.4223 0.6255 0.5570 0.8457 0.7810 0.7478 0.7401 0.66 0.44 0.78 0.58 0.75 rs17596 COSM146789 1(breast);1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7204 0.4131 0.6390 0.6964 0.5639 0.8458 0.7825 0.7187 0.7415 0.6748 0.4278 0.6463 0.6921 0.5390 0.8403 0.7904 0.7576 hom 1791.79 60 1 223905532 . G A 1791.79 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=29.86;VQSLOD=9.2994;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1825,138,0 1 223934720 223934720 G A exonic CAPN2 synonymous SNV CAPN2:NM_001146068:exon5:c.G348A:p.A116A,CAPN2:NM_001748:exon5:c.G582A:p.A194A 0.68 0.29 0.72 0.71 0.9 0.93 0.8303 0.3798 0.7202 0.6789 0.9099 0.9062 0.8678 0.9302 0.74 0.4 0.91 0.6 0.86 rs17600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8354 0.3697 0.7354 0.8869 0.6833 0.9124 0.9065 0.8517 0.9286 0.7461 0.3859 0.7649 0.8808 0.6658 0.9132 0.9123 0.8763 hom 5037.70 162 1 223934720 . G A 5037.70 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5914;MQ=59.65;MQ0=0;QD=31.10;VQSLOD=8.3671;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:162:99:5037,409,0 1 223954080 223954080 A C exonic CAPN2 nonsynonymous SNV CAPN2:NM_001146068:exon16:c.A1468C:p.K490Q,CAPN2:NM_001748:exon16:c.A1702C:p.K568Q 0.21 0.098 0.25 0.27 0.24 0.22 0.2276 0.1216 0.2012 0.2448 0.2828 0.2481 0.2163 0.1997 0.2 0.13 0.24 0.13 0.23 rs17599 COSM146791 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);2(prostate);1(thymus) . . . . . . . . . . . 0.037 0.430 D 0.007 0.174 B 0.032 0.277 B 0.000 0.629 D 0.000 0.588 P 2.885 0.838 M 1.43 0.330 T -2.98 0.620 D 0.141 0.165 -1.077 0.079 T 0.000 0.000 T . . . 5.820 0.797 27.2 0.991 0.508 0.987 0.858 D c 0.198 0.335 1.000 0.747 0.632 0.406 0 5.47 0.803 7.147 0.768 1.199 0.960 1.000 0.715 1.000 0.888 15.547 0.757 EF-hand domain|EF-hand domain pair;Peptidase C2\x2c calpain\x2c domain III|Peptidase C2\x2c calpain\x2c large subunit\x2c domain III ENSG00000272645.1|ENSG00000243000.1|ENSG00000185495.6|ENSG00000272645.1 Lung|Nerve_Tibial|Nerve_Tibial|Whole_Blood 0.2280 0.1207 0.2107 0.1613 0.2474 0.2857 0.2479 0.2278 0.1964 0.2189 0.1233 0.2117 0.1623 0.2485 0.2776 0.2574 0.2464 het 1266.31 102 1 223954080 . A C 1266.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.850;DP=102;Dels=0.00;FS=0.751;HRun=1;HaplotypeScore=1.9937;MQ=59.14;MQ0=0;MQRankSum=-0.003;QD=12.41;ReadPosRankSum=0.787;VQSLOD=6.7423;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,52:102:99:1296,0,1350 1 224482084 224482084 C T exonic NVL nonsynonymous SNV NVL:NM_001243146:exon10:c.G643A:p.V215I,NVL:NM_001243147:exon11:c.G937A:p.V313I,NVL:NM_206840:exon11:c.G892A:p.V298I,NVL:NM_002533:exon12:c.G1210A:p.V404I 0.017 0.0015 0.019 . 0.043 0.027 0.0334 0.0068 0.0175 0.0002 0.0343 0.0456 0.0353 0.0286 0.033 0.0086 0.045 0.022 0.11 rs34631151 . . . . . . . . . . . . . 0.028 0.461 D 0.993 0.715 D 0.923 0.672 D 0.000 0.843 D 1 0.810 D 1.085 0.274 L -3.41 0.943 D -0.97 0.260 N 0.098 0.249 0.220 0.863 D 0.514 0.818 D . . . 6.415 0.885 29.7 0.999 0.963 0.978 0.769 D c 0.503 0.516 1.000 0.500 0.707 0.730 0 4.74 0.596 6.071 0.707 0.892 0.403 1.000 0.715 0.997 0.653 14.878 0.700 AAA+ ATPase domain|ATPase\x2c AAA-type\x2c conserved site|ATPase\x2c AAA-type\x2c core|P-loop containing nucleoside triphosphate hydrolase;AAA+ ATPase domain|ATPase\x2c AAA-type\x2c core|P-loop containing nucleoside triphosphate hydrolase;AAA+ ATPase domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000143771.7 Thyroid 0.0339 0.0061 0.0216 0.0911 0.0001 0.0357 0.0431 0.0346 0.0265 0.0271 0.0071 0.0263 0.0894 0 0.0401 0.0370 0.0336 het 1118.13 81 1 224482084 . C T 1118.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.908;DP=81;Dels=0.00;FS=4.481;HRun=0;HaplotypeScore=1.9780;MQ=58.96;MQ0=0;MQRankSum=1.574;QD=13.80;ReadPosRankSum=0.241;VQSLOD=5.0770;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,42:81:99:1148,0,1021 1 224492746 224492746 C T exonic NVL synonymous SNV NVL:NM_001243146:exon4:c.G90A:p.L30L,NVL:NM_001243147:exon6:c.G465A:p.L155L,NVL:NM_206840:exon6:c.G420A:p.L140L,NVL:NM_002533:exon7:c.G738A:p.L246L 0.82 0.52 0.93 0.89 0.97 0.92 0.9137 0.5795 0.9610 0.8982 0.9760 0.9487 0.9493 0.9311 0.83 0.59 0.94 0.81 0.9 rs3754090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9216 0.5743 0.9609 0.9328 0.8994 0.9723 0.9462 0.9368 0.9317 0.8446 0.5789 0.9535 0.9272 0.8986 0.9740 0.9488 0.9369 hom 7088.12 243 1 224492746 . C T 7088.12 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.27;MQ0=0;QD=29.17;VQSLOD=8.7948;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,243:243:99:7087,569,0 1 224495852 224495852 C T exonic NVL synonymous SNV NVL:NM_206840:exon5:c.G138A:p.R46R,NVL:NM_002533:exon6:c.G456A:p.R152R 0.82 0.53 0.93 0.89 0.97 0.92 0.9143 0.5849 0.9611 0.8986 0.9760 0.9488 0.9493 0.9310 0.83 0.6 0.94 0.81 0.9 rs7534447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9221 0.5800 0.9611 0.9328 0.8996 0.9724 0.9463 0.9365 0.9315 0.8458 0.5836 0.9535 0.9272 0.8983 0.9740 0.9488 0.9369 hom 4730.74 161 1 224495852 . C T 4730.74 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=29.38;VQSLOD=9.0448;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:4730,370,0 1 225607144 225607144 C T exonic LBR nonsynonymous SNV LBR:NM_002296:exon5:c.G461A:p.S154N,LBR:NM_194442:exon5:c.G461A:p.S154N 0.71 0.36 0.86 0.96 0.84 0.69 0.8009 0.4210 0.8750 0.9561 0.8627 0.8453 0.8333 0.6965 0.7 0.44 0.84 0.62 0.72 rs2230419 COSM5000709 1(pancreas) Benign|Benign not_specified|Greenberg_dysplasia RCV000245894.1|RCV000287243.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1300226:215140:ORPHA1426:389261002 . . . . . . 0.561 0.063 T 0.005 0.156 B 0.007 0.139 B 0.904 0.086 N 1 0.090 P 0 0.065 N -4.17 0.969 D 0.09 0.098 N 0.003 0.031 -1.020 0.237 T 0.000 0.000 T . . . -1.671 0.013 0.002 0.378 0.025 0.010 0.037 N c -2.237 -2.263 1.000 0.446 0.706 0.609 0 -7.95 0.010 -0.167 0.098 -2.161 0.004 0.001 0.137 0.002 0.062 5.073 0.139 . . . 0.8117 0.4159 0.8734 0.8912 0.9582 0.8563 0.8383 0.8465 0.6985 0.7334 0.4191 0.8810 0.8742 0.9548 0.8707 0.8423 0.8354 hom 1866.46 61 1 225607144 . C T 1866.46 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;QD=30.60;VQSLOD=8.5626;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1899,147,0 1 225609884 225609884 A G exonic LBR synonymous SNV LBR:NM_002296:exon3:c.T261C:p.P87P,LBR:NM_194442:exon3:c.T261C:p.P87P 0.67 0.33 0.83 0.9 0.8 0.64 0.7502 0.3824 0.8515 0.8991 0.7785 0.7914 0.7577 0.6550 0.66 0.4 0.79 0.61 0.75 rs1056608 . . Benign|Benign not_specified|Greenberg_dysplasia RCV000250536.1|RCV000373671.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1300226:215140:ORPHA1426:389261002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7632 0.3824 0.8492 0.8631 0.8981 0.7716 0.7867 0.7879 0.6554 0.683 0.3860 0.8489 0.8311 0.8832 0.7828 0.7929 0.7714 hom 2457.71 71 1 225609884 . A G 2457.71 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.6208;MQ=58.42;MQ0=0;QD=34.62;VQSLOD=9.0145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2491,202,0 1 225611661 225611661 C T exonic LBR synonymous SNV LBR:NM_002296:exon2:c.G117A:p.V39V,LBR:NM_194442:exon2:c.G117A:p.V39V 0.66 0.63 0.78 0.74 0.71 0.47 0.7112 0.6334 0.7876 0.7676 0.7865 0.7419 0.7467 0.5212 0.7 0.64 0.73 0.64 0.76 rs1056607 COSM4422673 1(kidney);1(large_intestine) Benign|Benign not_specified|Greenberg_dysplasia RCV000245794.1|RCV000338935.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1300226:215140:ORPHA1426:389261002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7178 0.6381 0.7878 0.7490 0.7708 0.7889 0.7352 0.7472 0.5217 0.7261 0.6419 0.7780 0.7053 0.7587 0.7841 0.7530 0.7648 hom 8456.10 250 1 225611661 . C T 8456.10 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=59.00;MQ0=0;QD=33.82;VQSLOD=9.1997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8455,680,0 1 226019500 226019500 T C exonic EPHX1 synonymous SNV EPHX1:NM_000120:exon3:c.T204C:p.D68D,EPHX1:NM_001136018:exon3:c.T204C:p.D68D,EPHX1:NM_001291163:exon3:c.T204C:p.D68D 0.0066 0.0015 0.01 . 0.023 0.001 0.0119 0.0025 0.0051 0 0.0080 0.0185 0.0220 0.0034 0.014 0.0032 0.019 0.011 0.016 rs2234698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0117 0.0027 0.0060 0.0023 0 0.0072 0.0204 0.0120 0.0036 0.0098 0.0033 0.0095 0 0 0.0060 0.0157 0.0092 het 2014.88 180 1 226019500 . T C 2014.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.690;DP=180;Dels=0.00;FS=2.637;HRun=0;HaplotypeScore=4.5974;MQ=59.54;MQ0=0;MQRankSum=0.036;QD=11.19;ReadPosRankSum=-0.028;VQSLOD=5.6400;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,78:180:99:2045,0,2490 1 226026406 226026406 A G exonic EPHX1 nonsynonymous SNV EPHX1:NM_000120:exon4:c.A416G:p.H139R,EPHX1:NM_001136018:exon4:c.A416G:p.H139R,EPHX1:NM_001291163:exon4:c.A416G:p.H139R 0.22 0.35 0.14 0.12 0.16 0.23 0.1963 0.3466 0.0819 0.1284 0.1576 0.1963 0.1916 0.2332 0.25 0.34 0.2 0.18 0.09 rs2234922 COSM3735957 1(haematopoietic_and_lymphoid_tissue);2(skin);1(large_intestine) Benign|drug response EPOXIDE_HYDROLASE_POLYMORPHISM|carbamazepine_response_-_Dosage RCV000018079.3|RCV000211258.1 MedGen CN236494 . . . . . . 1.0 0.020 T 0.0 0.026 B 0.0 0.013 B 0.077 0.211 N 1 0.090 P 0 0.065 N 3.9 0.035 T 0.76 0.020 N 0.025 0.246 -0.956 0.399 T 0.000 0.000 T . . . -1.689 0.013 0.002 0.486 0.040 0.041 0.095 N c -1.313 -1.201 0.412 0.202 0.707 0.730 0 2.55 0.296 0.840 0.271 -0.718 0.036 0.003 0.159 0.001 0.043 7.654 0.274 Alpha/Beta hydrolase fold|Epoxide hydrolase\x2c N-terminal . . 0.1870 0.3479 0.0931 0.1391 0.1273 0.1524 0.2010 0.1782 0.2337 0.2276 0.3376 0.1103 0.1490 0.1242 0.1645 0.2003 0.1867 het 2925.10 246 1 226026406 . A G 2925.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.768;DP=246;Dels=0.00;FS=5.186;HRun=0;HaplotypeScore=13.8106;MQ=59.45;MQ0=0;MQRankSum=1.084;QD=11.89;ReadPosRankSum=-1.310;VQSLOD=2.7835;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,123:246:99:2955,0,3094 1 226032229 226032229 C T exonic EPHX1 synonymous SNV EPHX1:NM_000120:exon8:c.C1071T:p.N357N,EPHX1:NM_001136018:exon8:c.C1071T:p.N357N,EPHX1:NM_001291163:exon8:c.C1071T:p.N357N 0.13 0.11 0.059 0.11 0.089 0.25 0.1119 0.1085 0.0382 0.1244 0.0547 0.1002 0.1123 0.2292 0.11 0.11 0.1 0.054 0.041 rs1051741 COSM146794 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1062 0.1100 0.0432 0.0678 0.1262 0.0539 0.1025 0.0919 0.2278 0.0923 0.1036 0.0549 0.0867 0.1227 0.0561 0.0934 0.0879 het 1567.11 142 1 226032229 . C T 1567.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.815;DP=142;Dels=0.00;FS=3.329;HRun=0;HaplotypeScore=1.7900;MQ=59.64;MQ0=0;MQRankSum=1.557;QD=11.04;ReadPosRankSum=-2.560;VQSLOD=5.1129;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,59:142:99:1597,0,2029 1 226055595 226055595 G A exonic TMEM63A synonymous SNV TMEM63A:NM_014698:exon7:c.C507T:p.D169D 0.43 0.52 0.31 0.52 0.26 0.47 0.3353 0.4634 0.3270 0.5411 0.1801 0.2732 0.3009 0.4673 0.34 0.44 0.29 0.28 0.22 rs2292564 COSM146795 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3272 0.4627 0.3189 0.2424 0.5417 0.1782 0.2789 0.2856 0.4665 0.3407 0.4673 0.3258 0.2417 0.5517 0.1799 0.2884 0.2863 het 1906.19 119 1 226055595 . G A 1906.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.829;DP=119;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9947;MQ=59.61;MQ0=0;MQRankSum=0.656;QD=16.02;ReadPosRankSum=-1.217;VQSLOD=6.5467;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,68:119:99:1936,0,1207 1 226055624 226055624 C T exonic TMEM63A nonsynonymous SNV TMEM63A:NM_014698:exon7:c.G478A:p.V160I 0.0018 0.0008 0.0058 . 0.003 0.001 0.0027 0.0008 0.0021 0 0 0.0040 0.0044 0.0017 0.0034 0.0002 0.005 . 0.016 rs115600896 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.009 0.133 B 0.000 0.469 N 0.967 0.386 D . . . 0.95 0.433 T 0.14 0.054 N 0.052 0.034 -1.049 0.147 T 0.030 0.128 T 0.003 0.056 T 0.879 0.178 9.941 0.139 0.003 0.120 0.168 N c -0.830 -0.658 0.519 0.211 0.707 0.730 0 3.03 0.339 0.000 0.128 0.060 0.166 0.002 0.151 0.880 0.369 9.466 0.378 Calcium permeable stress-gated cation channel 1\x2c N-terminal transmembrane domain . . 0.0030 0.0007 0.0032 0.0035 0 8.969e-05 0.0047 0.0024 0.0019 0.0027 0.0008 0.0048 0 0 0.0003 0.0047 0.0010 het 1221.94 119 1 226055624 . C T 1221.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.834;DP=119;Dels=0.00;FS=0.698;HRun=0;HaplotypeScore=2.8448;MQ=59.42;MQ0=0;MQRankSum=-1.027;QD=10.27;ReadPosRankSum=0.397;VQSLOD=5.4037;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,52:119:99:1252,0,1905 1 226125385 226125385 G A exonic LEFTY2 nonsynonymous SNV LEFTY2:NM_003240:exon4:c.C857T:p.P286L,LEFTY2:NM_001172425:exon5:c.C755T:p.P252L 0.051 0.0008 0.05 0.11 0.031 0.085 0.0424 0.0074 0.0442 0.1008 0.0179 0.0363 0.0308 0.0649 0.026 0.01 0.034 0.011 0.025 rs2295418 . . Benign|Likely benign|Benign not_specified|Heterotaxy_syndrome|Left-right_axis_malformations RCV000126616.2|RCV000347075.1|RCV000467952.1 MedGen|MedGen|MedGen CN169374|C3178805|C1866091 . . . . . . 0.004 0.654 D 1.0 0.899 D 1.0 0.971 D 0.000 0.629 N 0.000 0.504 P 2.67 0.784 M -0.04 0.633 T -4.72 0.825 D 0.098 0.100 -0.636 0.633 T 0.032 0.136 T . . . 3.916 0.527 23.5 0.997 0.781 0.973 0.737 D c 0.423 0.331 0.994 0.333 0.615 0.372 0 4.18 0.483 9.452 0.968 0.974 0.594 1.000 0.715 0.805 0.338 13.559 0.611 Cystine-knot cytokine|Transforming growth factor beta\x2c conserved site|Transforming growth factor-beta\x2c C-terminal;Transforming growth factor-beta\x2c C-terminal . . 0.0406 0.0071 0.0401 0.0181 0.1014 0.0183 0.0358 0.0377 0.0647 0.0288 0.0083 0.0549 0.0166 0.1027 0.0172 0.0338 0.0356 het 531.70 41 1 226125385 . G A 531.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.600;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6103;MQ=57.69;MQ0=0;MQRankSum=-0.190;QD=12.97;ReadPosRankSum=-0.894;VQSLOD=4.1930;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,21:41:99:562,0,479 1 226352498 226352498 T G exonic ACBD3 nonsynonymous SNV ACBD3:NM_022735:exon3:c.A561C:p.E187D 0.53 0.61 0.64 0.45 0.61 0.34 0.5747 0.5916 0.7449 0.4270 0.6276 0.5954 0.5454 0.4167 0.6 0.59 0.6 0.48 0.59 rs2306120 COSM3997294 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.1 0.305 T 0.612 0.378 P 0.237 0.368 B 0.000 0.843 D 0.354 0.329 P 2.61 0.766 M 1.49 0.315 T -1.35 0.336 N 0.167 0.202 -1.048 0.149 T 0.000 0.000 T . . . 1.770 0.274 14.81 0.986 0.427 0.738 0.358 D c -0.400 -0.493 0.134 0.172 0.707 0.730 0 -6.12 0.019 -0.048 0.118 0.045 0.158 0.901 0.312 0.998 0.697 19.101 0.932 . ENSG00000182827.8|ENSG00000182827.8|ENSG00000234478.1|ENSG00000182827.8|ENSG00000163041.5|ENSG00000182827.8|ENSG00000182827.8 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial 0.5842 0.5893 0.7371 0.6116 0.4294 0.6304 0.5963 0.5701 0.4199 0.5884 0.5869 0.6814 0.5662 0.4320 0.6073 0.5976 0.5786 het 1256.97 120 1 226352498 . T G 1256.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.417;DP=120;Dels=0.00;FS=1.484;HRun=0;HaplotypeScore=3.8197;MQ=59.59;MQ0=0;MQRankSum=0.463;QD=10.47;ReadPosRankSum=0.559;VQSLOD=6.1503;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,52:120:99:1287,0,1767 1 226474132 226474132 G A exonic LIN9 synonymous SNV LIN9:NM_001270409:exon5:c.C369T:p.F123F,LIN9:NM_001270410:exon6:c.C270T:p.F90F,LIN9:NM_173083:exon6:c.C474T:p.F158F 0.71 0.75 0.67 0.74 0.68 0.66 0.7070 0.7368 0.7957 0.7391 0.7747 0.6824 0.6797 0.6831 0.7 0.74 0.69 0.65 0.53 rs10799347 COSM3930661 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7108 0.7314 0.7870 0.6780 0.7455 0.7768 0.6790 0.6692 0.6845 0.7150 0.7235 0.7267 0.6490 0.7466 0.7640 0.6950 0.7286 het 1188.20 92 1 226474132 . G A 1188.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.156;DP=92;Dels=0.00;FS=0.785;HRun=2;HaplotypeScore=2.3984;MQ=57.46;MQ0=0;MQRankSum=0.461;QD=12.92;ReadPosRankSum=0.219;VQSLOD=5.0334;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,45:92:99:1218,0,1188 1 226570840 226570840 T C exonic PARP1 synonymous SNV PARP1:NM_001618:exon8:c.A1056G:p.K352K 0.79 0.91 0.65 0.56 0.85 0.9 0.7939 0.8975 0.5514 0.5649 0.7633 0.8262 0.8216 0.8983 0.86 0.9 0.84 0.85 0.71 rs1805415 COSM3746819 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7839 0.9007 0.5734 0.8413 0.5545 0.7655 0.8333 0.7985 0.8972 0.8228 0.8962 0.6388 0.8411 0.5603 0.7643 0.8339 0.7895 hom 4779.75 150 1 226570840 . T C 4779.75 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3691;MQ=59.31;MQ0=0;QD=31.86;VQSLOD=8.4601;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4779,373,0 1 226923264 226923264 G A exonic ITPKB synonymous SNV ITPKB:NM_002221:exon2:c.C1896T:p.A632A 0.28 0.24 0.32 0.26 0.31 0.29 0.2858 0.2527 0.2894 0.2665 0.2780 0.2866 0.3143 0.3265 0.28 0.25 0.29 0.28 0.23 rs708775 COSM4417979;COSM146796 1(stomach);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2805 0.2508 0.2925 0.2860 0.2694 0.2659 0.2833 0.3036 0.2913 0.2679 0.2545 0.3258 0.2815 0.2882 0.2729 0.2691 0.2648 het 2023.74 226 1 226923264 . G A 2023.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.048;DP=226;Dels=0.00;FS=1.087;HRun=2;HaplotypeScore=7.7932;MQ=59.23;MQ0=0;MQRankSum=-1.765;QD=8.95;ReadPosRankSum=0.115;VQSLOD=3.2857;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:146,79:226:99:2054,0,3833 1 226923505 226923505 G T exonic ITPKB nonsynonymous SNV ITPKB:NM_002221:exon2:c.C1655A:p.P552Q 0.98 1. 0.96 1. 0.94 0.99 0.9646 0.9919 0.9793 0.9999 0.9525 0.9481 0.9635 0.9907 0.96 0.99 0.94 0.98 0.97 rs708776 . . . . . . . . . . . . . 0.583 0.059 T 0.0 0.026 B 0.0 0.013 B 0.484 0.121 N 1 0.090 P -0.895 0.014 N 1.98 0.229 T 0.53 0.028 N 0.024 0.007 -1.012 0.264 T 0.000 0.000 T . . . 0.143 0.108 4.073 0.455 0.035 0.012 0.043 N c -1.529 -1.510 1.000 0.747 0.677 0.550 0 -4.95 0.028 -0.492 0.065 0.117 0.209 0.003 0.159 0.918 0.393 2.079 0.034 . . . 0.9640 0.9913 0.9758 0.9834 0.9999 0.9562 0.9436 0.9601 0.9915 0.9587 0.9889 0.9690 0.9967 1 0.9576 0.9359 0.9519 hom 2034.28 61 1 226923505 . G T 2034.28 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59.62;MQ0=0;QD=33.35;VQSLOD=9.7905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:2067,163,0 1 226923938 226923938 A C exonic ITPKB nonsynonymous SNV ITPKB:NM_002221:exon2:c.T1222G:p.S408A 0.61 0.61 0.66 0.68 0.53 0.6 0.5305 0.5845 0.7358 0.6685 0.4347 0.4720 0.5254 0.5623 0.51 0.58 0.48 0.71 0.46 rs6667260 COSM4143423;COSM425464 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.983 0.081 N 1 0.090 P -1.445 0.006 N 2.07 0.205 T 0.05 0.064 N 0.028 0.009 -0.944 0.420 T 0.000 0.000 T . . . -1.658 0.013 0.002 0.196 0.007 0.001 0.007 N c -1.506 -1.450 1.000 0.410 0.628 0.401 0 1.01 0.190 -0.836 0.045 -0.014 0.131 0.000 0.063 0.002 0.062 3.041 0.057 . ENSG00000143801.12 Cells_Transformed_fibroblasts 0.5341 0.5812 0.7222 0.5524 0.6683 0.4233 0.4677 0.5392 0.5566 0.5021 0.5859 0.7146 0.5464 0.6660 0.4297 0.4417 0.4723 hom 1628.25 49 1 226923938 . A C 1628.25 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.23;VQSLOD=13.6073;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1661,129,0 1 226924642 226924642 C T exonic ITPKB nonsynonymous SNV ITPKB:NM_002221:exon2:c.G518A:p.R173H 0.23 0.17 0.2 0.34 0.21 0.22 0.2073 0.1738 0.3185 0.3280 0.1558 0.1880 0.1973 0.1848 0.18 0.18 0.18 0.3 0.18 rs3754415 COSM425466;COSM3746820 1(liver);2(thyroid) . . . . . . . . . . . 0.032 0.446 D 0.946 0.514 P 0.224 0.363 B 0.000 0.537 D 0.418 0.324 P 0.895 0.225 L 1.24 0.377 T -0.65 0.475 N 0.149 0.176 -0.958 0.395 T 0.000 0.000 T . . . 6.758 0.921 32 0.999 0.999 0.749 0.364 D c 0.214 0.284 1.000 0.747 0.628 0.401 0 4.6 0.564 1.881 0.390 0.935 0.490 0.765 0.291 1.000 0.888 9.190 0.362 . . . 0.2100 0.1637 0.3077 0.2596 0.3225 0.1553 0.1821 0.2101 0.1844 0.1806 0.1721 0.2936 0.2649 0.3011 0.1544 0.1704 0.1844 het 2018.16 146 1 226924642 . C T 2018.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.316;DP=146;Dels=0.00;FS=11.768;HRun=0;HaplotypeScore=2.9711;MQ=59.27;MQ0=0;MQRankSum=1.419;QD=13.82;ReadPosRankSum=-0.796;VQSLOD=4.0341;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,79:146:99:2048,0,1830 1 227069677 227069677 T C exonic PSEN2 synonymous SNV PSEN2:NM_000447:exon4:c.T69C:p.A23A,PSEN2:NM_012486:exon4:c.T69C:p.A23A 0.74 0.83 0.72 0.54 0.8 0.75 0.7603 0.8168 0.7404 0.5626 0.7863 0.7801 0.7841 0.7508 0.79 0.82 0.78 0.79 0.65 rs11405 COSM4417773;COSM4417774 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Dilated_Cardiomyopathy\x2c_Dominant|Early-Onset_Familial_Alzheimer_Disease RCV000248412.1|RCV000286903.1|RCV000372045.1 MedGen|MedGen|MedGen CN169374|CN239310|CN043596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7569 0.8162 0.7408 0.7548 0.5550 0.7870 0.7788 0.7744 0.7546 0.7693 0.8193 0.7536 0.7682 0.5455 0.7845 0.7619 0.7643 hom 3518.17 113 1 227069677 . T C 3518.17 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6490;MQ=59.47;MQ0=0;QD=31.13;VQSLOD=9.1471;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3517,304,0 1 227069737 227069737 C T exonic PSEN2 synonymous SNV PSEN2:NM_000447:exon4:c.C129T:p.N43N,PSEN2:NM_012486:exon4:c.C129T:p.N43N 0.44 0.36 0.48 0.39 0.59 0.43 0.4995 0.3905 0.5145 0.4064 0.5332 0.5425 0.5434 0.4169 0.49 0.39 0.54 0.52 0.39 rs6759 COSM4415168;COSM4415169 2(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy\x2c_Dominant RCV000244764.1|RCV000342061.1|RCV000378064.1 MedGen|MedGen|MedGen CN169374|CN043596|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5025 0.3796 0.5185 0.6122 0.4051 0.5361 0.5342 0.5450 0.4195 0.4770 0.3866 0.5371 0.6192 0.3888 0.5358 0.5173 0.5072 hom 1982.33 63 1 227069737 . C T 1982.33 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8268;MQ=59.63;MQ0=0;QD=31.47;VQSLOD=9.5406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2015,168,0 1 227071525 227071525 C T exonic PSEN2 synonymous SNV PSEN2:NM_000447:exon5:c.C261T:p.H87H,PSEN2:NM_012486:exon5:c.C261T:p.H87H 0.44 0.36 0.48 0.39 0.59 0.43 0.4991 0.3877 0.5158 0.4064 0.5331 0.5418 0.5452 0.4170 0.49 0.39 0.54 0.51 0.43 rs1046240 COSM4143427;COSM4143428 1(breast);4(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Likely benign|Likely benign not_specified|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy\x2c_Dominant RCV000247730.1|RCV000343972.1|RCV000394749.1 MedGen|MedGen|MedGen CN169374|CN043596|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5030 0.3796 0.5193 0.6124 0.4051 0.5363 0.5348 0.5458 0.4194 0.4774 0.3867 0.5383 0.6192 0.3856 0.5367 0.5179 0.5072 hom 7548.38 248 1 227071525 . C T 7548.38 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9961;MQ=59.22;MQ0=0;QD=30.44;VQSLOD=6.4527;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7548,590,0 1 227182033 227182033 G A exonic CDC42BPA nonsynonymous SNV CDC42BPA:NM_014826:exon35:c.C4853T:p.A1618V,CDC42BPA:NM_003607:exon36:c.C5096T:p.A1699V 0.88 0.93 0.87 0.89 0.87 0.81 0.8883 0.9138 0.8917 0.8916 0.9341 0.8973 0.9091 0.8189 0.9 0.92 0.89 0.92 0.75 rs2802269 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.063 B 0.107 0.196 N 1 0.090 P 0.41 0.124 N -0.18 0.659 T -0.16 0.107 N 0.063 0.374 -0.940 0.427 T 0.000 0.000 T . . . 1.547 0.248 13.57 0.971 0.320 0.167 0.193 N c -1.088 -0.971 1.000 0.747 0.742 0.980 0 1.22 0.202 2.039 0.406 0.168 0.246 0.658 0.280 0.951 0.427 5.596 0.165 . . . 0.8875 0.9120 0.8925 0.9101 0.8863 0.9312 0.8928 0.8947 0.8143 0.9063 0.9090 0.8950 0.9139 0.9024 0.9290 0.9009 0.8957 hom 410.65 17 1 227182033 . G A 410.65 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;QD=24.16;VQSLOD=7.8088;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:36.09:444,36,0 1 227182575 227182575 A G exonic CDC42BPA synonymous SNV CDC42BPA:NM_014826:exon34:c.T4734C:p.S1578S,CDC42BPA:NM_003607:exon35:c.T4977C:p.S1659S 0.83 0.98 0.84 0.83 0.83 0.61 0.7983 0.9505 0.8087 0.8427 0.7385 0.8115 0.7874 0.6433 0.86 0.94 0.81 0.92 0.85 rs1045247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7983 0.9516 0.8212 0.8791 0.8354 0.7434 0.8109 0.8030 0.6436 0.8387 0.9471 0.8237 0.9007 0.8356 0.7513 0.8001 0.7721 hom 5823.11 187 1 227182575 . A G 5823.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.620;DP=187;Dels=0.00;FS=3.434;HRun=1;HaplotypeScore=2.8622;MQ=59.33;MQ0=0;MQRankSum=0.354;QD=31.14;ReadPosRankSum=1.322;VQSLOD=4.4495;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,186:187:99:5782,441,0 1 227216662 227216662 T C exonic CDC42BPA synonymous SNV CDC42BPA:NM_014826:exon28:c.A3780G:p.K1260K,CDC42BPA:NM_003607:exon29:c.A4023G:p.K1341K 0.4 0.48 0.42 0.4 0.47 0.23 0.4318 0.4633 0.4718 0.4441 0.4368 0.4599 0.4349 0.2618 0.46 0.47 0.46 0.61 0.42 rs1929861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4334 0.4631 0.4716 0.4770 0.4342 0.4399 0.4599 0.4341 0.2617 0.4504 0.4584 0.4726 0.4967 0.4355 0.4290 0.4512 0.4338 het 1213.02 94 1 227216662 . T C 1213.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.415;DP=94;Dels=0.00;FS=0.788;HRun=1;HaplotypeScore=0.5784;MQ=58.55;MQ0=0;MQRankSum=-0.515;QD=12.90;ReadPosRankSum=0.227;VQSLOD=5.9442;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,45:94:99:1243,0,1388 1 227216775 227216775 C T exonic CDC42BPA nonsynonymous SNV CDC42BPA:NM_014826:exon28:c.G3667A:p.V1223I,CDC42BPA:NM_003607:exon29:c.G3910A:p.V1304I 0.28 0.19 0.33 0.4 0.33 0.19 0.3177 0.2096 0.4015 0.4421 0.3621 0.3261 0.3128 0.2108 0.28 0.22 0.32 0.43 0.3 rs1929860 COSM3746824;COSM3746823;COSM3746825;COSM3746822;COSM3746821 1(liver);1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.093 B 0.000 0.629 N 1.000 0.189 P -1.08 0.010 N 3.6 0.045 T 0.49 0.032 N 0.041 0.196 -0.927 0.446 T 0.000 0.000 T . . . 1.126 0.202 11.36 0.302 0.016 0.121 0.169 N c -1.008 -0.775 0.487 0.208 0.722 0.854 0 4.18 0.483 0.262 0.181 0.119 0.209 0.096 0.225 0.993 0.574 8.523 0.323 Citron homology (CNH) domain . . 0.3228 0.2106 0.3958 0.3016 0.4329 0.3663 0.3232 0.3198 0.2124 0.3037 0.2112 0.3708 0.3079 0.4350 0.3629 0.3246 0.3180 het 917.23 59 1 227216775 . C T 917.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.014;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6454;MQ=58.82;MQ0=0;MQRankSum=0.424;QD=15.55;ReadPosRankSum=-0.486;VQSLOD=5.9825;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,35:59:99:947,0,661 1 227504794 227504794 T C exonic CDC42BPA synonymous SNV CDC42BPA:NM_003607:exon1:c.A90G:p.T30T,CDC42BPA:NM_014826:exon1:c.A90G:p.T30T 0.27 0.34 0.3 0.34 0.15 0.21 0.2172 0.3053 0.3985 0.3837 0.2387 0.1522 0.1971 0.2024 0.2 0.3 0.14 0.36 0.13 rs11804613 COSM3746829;COSM3746830;COSM3746826;COSM3746828;COSM3746827 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2200 0.3062 0.3753 0.1181 0.3834 0.2345 0.1498 0.1922 0.1984 0.2195 0.2972 0.3317 0.0927 0.3764 0.2288 0.1521 0.2077 het 1252.44 108 1 227504794 . T C 1252.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.442;DP=108;Dels=0.00;FS=2.656;HRun=0;HaplotypeScore=5.9591;MQ=57.91;MQ0=0;MQRankSum=2.763;QD=11.60;ReadPosRankSum=-0.563;VQSLOD=3.9000;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,53:108:99:1282,0,1344 1 227923081 227923081 G A exonic JMJD4 nonsynonymous SNV JMJD4:NM_001161465:exon1:c.C32T:p.A11V,JMJD4:NM_023007:exon1:c.C32T:p.A11V 1. 1. 1. 1. 1. 1. 0.9998 1 0.9995 1 1 0.9998 1 1 1. 1. 1. 0.76 0.62 rs7419238 COSM3749033 1(thyroid);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.198 P -0.55 0.024 N 2.12 0.197 T 0.12 0.056 N 0.033 0.013 -1.008 0.277 T 0.000 0.000 T . . . -0.327 0.066 0.576 0.770 0.113 0.002 0.010 N c -0.965 -1.050 1.000 0.747 0.035 0.002 3 1.99 0.253 -0.027 0.122 0.142 0.226 0.000 0.063 0.001 0.043 5.777 0.174 . . . 0.9998 1 0.9996 0.9996 1 1 0.9998 0.9992 1 1.0000 1 1 1 1 1 0.9999 1 hom 494.97 19 1 227923081 . G A 494.97 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.05;VQSLOD=13.2633;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:42.13:528,42,0 1 228033197 228033197 A G exonic PRSS38 nonsynonymous SNV PRSS38:NM_183062:exon4:c.A610G:p.M204V 0.8 0.77 0.76 0.69 0.84 0.91 0.8277 0.7935 0.6481 0.7173 0.8177 0.8580 0.8542 0.9092 0.84 0.8 0.86 0.75 0.79 rs9426581 . . . . . . . . . . . . . 0.377 0.113 T 0.0 0.026 B 0.0 0.013 B 0.636 0.106 N 1 0.090 P -2.23 0.001 N 0.52 0.553 T 0.73 0.021 N 0.039 0.019 -0.975 0.362 T 0.000 0.000 T . . . -0.634 0.048 0.103 0.656 0.076 0.008 0.032 N c -1.398 -1.229 0.998 0.370 0.487 0.133 0 3.16 0.353 1.094 0.304 0.138 0.222 0.412 0.260 0.007 0.100 6.540 0.214 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.8188 0.7877 0.6590 0.8330 0.7135 0.8197 0.8605 0.8322 0.9083 0.8247 0.7796 0.7088 0.8046 0.6970 0.8315 0.8703 0.8203 het 569.32 48 1 228033197 . A G 569.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.528;DP=48;Dels=0.00;FS=1.490;HRun=1;HaplotypeScore=1.7608;MQ=58.55;MQ0=0;MQRankSum=-0.011;QD=11.86;ReadPosRankSum=0.757;VQSLOD=5.9269;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,22:48:99:599,0,682 1 228109247 228109247 C T exonic WNT9A nonsynonymous SNV WNT9A:NM_003395:exon4:c.G1070A:p.R357H 0.0002 . . . 0.001 . 0.0011 9.762e-05 0.0011 0.0001 0.0008 0.0017 0 0 0.0014 0.0002 0.002 . . rs145836311 COSM3785173 2(pancreas) . . . . . . . . . . . 0.01 0.564 D 0.985 0.592 D 0.806 0.566 P 0.000 0.629 D 0.998 0.449 D 1.97 0.535 M -1.02 0.763 T -2.09 0.476 N 0.578 0.628 -0.390 0.724 T 0.419 0.765 T 0.149 0.831 D 7.218 0.946 34 0.999 0.986 0.674 0.332 D c 0.250 0.229 1.000 0.427 0.615 0.372 0 4.64 0.572 1.144 0.310 0.789 0.320 0.243 0.246 0.963 0.446 10.293 0.426 . . . 0.0011 6.545e-05 0.0010 0 0.0002 0.0006 0.0018 0.0013 3.257e-05 0.0010 0.0002 0 0 0 0 0.0019 0.0010 het 1262.23 95 1 228109247 . C T 1262.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.051;DP=95;Dels=0.00;FS=3.836;HRun=0;HaplotypeScore=1.6828;MQ=59.56;MQ0=0;MQRankSum=0.748;QD=13.29;ReadPosRankSum=0.197;VQSLOD=4.8474;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,48:95:99:1292,0,1225 1 228402047 228402047 A G exonic OBSCN synonymous SNV OBSCN:NM_001098623:exon4:c.A1431G:p.L477L,OBSCN:NM_001271223:exon4:c.A1431G:p.L477L,OBSCN:NM_052843:exon4:c.A1431G:p.L477L 0.72 0.68 0.64 0.82 0.64 0.8 0.6544 0.6583 0.6030 0.8132 0.6609 0.6132 0.6633 0.7672 0.63 0.67 0.61 0.69 . rs1620111 COSM1339494;COSM1339493;COSM1339492 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6515 0.6615 0.6027 0.6049 0.8094 0.6582 0.6117 0.6406 0.7665 0.6403 0.6612 0.5919 0.6490 0.8168 0.6403 0.6098 0.6663 hom 3209.21 92 1 228402047 . A G 3209.21 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.02;MQ0=0;QD=34.88;VQSLOD=9.1517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3242,259,0 1 228402121 228402121 A G exonic OBSCN nonsynonymous SNV OBSCN:NM_001098623:exon4:c.A1505G:p.Q502R,OBSCN:NM_001271223:exon4:c.A1505G:p.Q502R,OBSCN:NM_052843:exon4:c.A1505G:p.Q502R 0.72 0.68 0.64 0.82 0.64 0.8 0.6539 0.6577 0.6032 0.8131 0.6616 0.6122 0.6633 0.7671 0.63 0.66 0.61 0.61 . rs1771487 COSM5003093;COSM5003092;COSM5003094 1(pancreas) . . . . . . . . . . . 0.901 0.242 T 0.01 0.165 B 0.013 0.166 B 0.000 0.513 D 0.939 0.810 P 0.62 0.158 N -1.0 0.760 T -1.84 0.457 N 0.118 0.302 -1.001 0.295 T 0.000 0.000 T . . . 3.331 0.459 22.9 0.997 0.778 0.948 0.621 D c -0.306 -0.081 1.000 0.747 0.767 0.994 0 5.27 0.737 3.899 0.558 1.199 0.960 1.000 0.715 0.348 0.245 15.165 0.724 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000162913.9|ENSG00000162913.9|ENSG00000269890.1|ENSG00000154358.15|ENSG00000162913.9|ENSG00000270110.1|ENSG00000269934.1|ENSG00000154358.15|ENSG00000270110.1|ENSG00000181873.8|ENSG00000162913.9|ENSG00000154358.15|ENSG00000162910.14|ENSG00000162913.9|ENSG00000162913.9|ENSG00000154358.15|ENSG00000269890.1|ENSG00000154358.15|ENSG00000181218.4|ENSG00000270110.1|ENSG00000162913.9|ENSG00000162913.9|ENSG00000181873.8 Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood 0.6517 0.6616 0.6028 0.6046 0.8095 0.6583 0.6117 0.6398 0.7663 0.6403 0.6600 0.5923 0.6490 0.8182 0.6406 0.6104 0.6643 hom 3895.52 122 1 228402121 . A G 3895.52 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2185;MQ=58.47;MQ0=0;QD=31.93;VQSLOD=6.8286;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,120:122:99:3895,319,0 1 228444565 228444565 T A exonic OBSCN nonsynonymous SNV OBSCN:NM_001098623:exon15:c.T4523A:p.V1508D,OBSCN:NM_052843:exon15:c.T4523A:p.V1508D,OBSCN:NM_001271223:exon16:c.T4799A:p.V1600D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.94 . rs7532342 COSM4591835;COSM4591836;COSM4591837 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.040 B 0.001 0.426 N 0.001 0.810 P -4.3 0.000 N 1.1 0.390 T 5.76 0.000 N 0.268 0.355 -0.939 0.429 T 0.000 0.000 T . . . 0.030 0.096 2.884 0.239 0.010 0.026 0.071 N c -1.375 -1.086 0.193 0.180 0.706 0.609 0 4.6 0.564 6.737 0.744 0.200 0.252 1.000 0.715 0.008 0.104 10.586 0.443 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2212.31 80 1 228444565 . T A 2212.31 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.34;MQ0=0;QD=27.65;VQSLOD=7.0306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:80:99:2245,207,0 1 228482569 228482569 G A exonic OBSCN synonymous SNV OBSCN:NM_001098623:exon43:c.G11484A:p.A3828A,OBSCN:NM_052843:exon43:c.G11484A:p.A3828A,OBSCN:NM_001271223:exon48:c.G12771A:p.A4257A 0.013 . 0.027 . 0.045 . 0.0211 0.0041 0.0200 0 0.0091 0.0324 0.02 0.0019 0.024 0.0053 0.032 . . rs56122236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0212 0.0046 0.0228 0.0174 0 0.0098 0.0338 0.0265 0.0023 0.0211 0.0071 0.0191 0.0066 0 0.0103 0.0346 0.0173 het 4546.05 250 1 228482569 . G A 4546.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.507;DP=250;DS;Dels=0.00;FS=2.157;HRun=0;HaplotypeScore=2.8301;MQ=59.74;MQ0=0;MQRankSum=1.679;QD=18.18;ReadPosRankSum=1.138;VQSLOD=4.5319;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3850,0,3198 1 228506768 228506768 C T exonic OBSCN nonsynonymous SNV OBSCN:NM_001098623:exon54:c.C14315T:p.P4772L,OBSCN:NM_052843:exon54:c.C14315T:p.P4772L,OBSCN:NM_001271223:exon65:c.C17186T:p.P5729L 0.0002 . . . 0.001 . 0.0002 0 0 0 0 0.0004 0 0 0.0003 . 0.0005 . . rs142983293 . . . . . . . . . . . . . 0.075 0.344 T 0.067 0.246 B 0.016 0.214 B 0.076 0.212 N 1.000 0.205 N 0 0.065 N 0.54 0.608 T -1.45 0.356 N 0.087 0.230 -1.059 0.120 T 0.075 0.301 T 0.038 0.581 D 1.693 0.265 14.37 0.930 0.220 0.035 0.086 N c -0.881 -0.816 0.028 0.138 0.615 0.372 0 2.13 0.263 -0.365 0.076 -0.561 0.047 0.000 0.063 0.033 0.150 4.527 0.113 . . . 0.0002 0 3.01e-05 0 0 0 0.0004 0.0002 0 0.0004 0.0001 0 0 0 0 0.0007 0 het 321.02 29 1 228506768 . C T 321.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.110;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=59.20;MQ0=0;MQRankSum=-0.241;QD=11.07;ReadPosRankSum=-1.425;VQSLOD=4.7049;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,13:29:99:351,0,466 1 228547901 228547901 C T exonic OBSCN synonymous SNV OBSCN:NM_052843:exon81:c.C19308T:p.D6436D 0.3 0.11 0.31 0.27 0.33 0.54 0.3126 0.1635 0.3209 0.2866 0.2343 0.2981 0.3509 0.4932 0.25 0.16 0.3 0.24 . rs12035900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3116 0.1610 0.3073 0.3537 0.2860 0.2291 0.2996 0.3208 0.4928 0.2446 0.1590 0.2864 0.3477 0.3151 0.2196 0.2846 0.3002 hom 1734.01 56 1 228547901 . C T 1734.01 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=30.96;VQSLOD=9.4887;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1767,147,0 1 228560700 228560700 T C exonic OBSCN synonymous SNV OBSCN:NM_001098623:exon94:c.T22221C:p.D7407D,OBSCN:NM_001271223:exon105:c.T25092C:p.D8364D 0.76 0.94 0.64 0.75 0.56 0.81 0.6317 0.8887 0.6755 0.7978 0.5118 0.5550 0.648 0.7625 0.65 0.86 0.55 0.81 . rs512253 COSM1473568 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6322 0.8877 0.6671 0.6456 0.8000 0.5089 0.5490 0.6110 0.7576 0.6472 0.8718 0.6411 0.6523 0.8073 0.5069 0.5350 0.6006 hom 854.29 36 1 228560700 . T C 854.29 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.05;MQ0=0;QD=23.73;VQSLOD=7.1969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:72.20:887,72,0 1 228612838 228612838 G T exonic HIST3H3 synonymous SNV HIST3H3:NM_003493:exon1:c.C189A:p.I63I 0.69 0.31 0.9 0.69 0.88 0.86 0.8208 0.3981 0.9333 0.6616 0.7950 0.8819 0.8381 0.8542 0.73 0.42 0.89 0.65 0.84 rs2230656 COSM4143485 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8331 0.3958 0.9266 0.8810 0.6591 0.8025 0.8862 0.8567 0.8561 0.7267 0.4067 0.9141 0.8510 0.6718 0.8040 0.8814 0.8200 hom 6507.31 210 1 228612838 . G T 6507.31 Mask AC=2;AF=1.00;AN=2;DP=210;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3895;MQ=59.44;MQ0=0;QD=30.99;VQSLOD=7.6087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:6506,539,0 1 228612892 228612892 G A exonic HIST3H3 synonymous SNV HIST3H3:NM_003493:exon1:c.C135T:p.G45G 0.043 0.0061 0.052 0.014 0.075 0.086 0.0706 0.0142 0.0293 0.0203 0.0666 0.0881 0.0872 0.0908 0.063 0.017 0.087 0.054 0.082 rs56336130 COSM3722048 1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0710 0.0123 0.0360 0.0753 0.0194 0.0672 0.0923 0.0750 0.0906 0.0632 0.0135 0.0453 0.0629 0.0265 0.0770 0.0930 0.0764 het 1014.37 127 1 228612892 . G A 1014.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.792;DP=127;Dels=0.00;FS=0.860;HRun=0;HaplotypeScore=3.5600;MQ=59.26;MQ0=0;MQRankSum=1.057;QD=7.99;ReadPosRankSum=-0.673;VQSLOD=5.1139;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,49:127:99:1044,0,2218 1 229461024 229461024 C T exonic CCSAP synonymous SNV CCSAP:NM_145257:exon4:c.G771A:p.P257P 0.36 0.21 0.51 0.39 0.45 0.33 0.4124 0.2475 0.4614 0.3839 0.4448 0.4463 0.3954 0.3475 0.37 0.25 0.43 0.33 0.38 rs2282083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4159 0.2436 0.4579 0.4256 0.3845 0.4431 0.4429 0.4270 0.3501 0.3773 0.2484 0.4523 0.4139 0.3439 0.4427 0.4333 0.4145 het 2167.53 192 1 229461024 . C T 2167.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.088;DP=192;Dels=0.00;FS=0.543;HRun=0;HaplotypeScore=4.2805;MQ=58.57;MQ0=0;MQRankSum=-1.578;QD=11.29;ReadPosRankSum=-0.169;VQSLOD=4.5874;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,87:192:99:2198,0,2534 1 229730452 229730452 G A exonic TAF5L synonymous SNV TAF5L:NM_014409:exon5:c.C1362T:p.S454S 0.3 0.094 0.27 0.33 0.46 0.43 0.3986 0.1340 0.2504 0.3293 0.4655 0.4632 0.4218 0.4150 0.36 0.15 0.46 0.25 0.3 rs2295625 COSM4143493 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3981 0.1301 0.2615 0.4156 0.3236 0.4632 0.4672 0.4220 0.4147 0.3732 0.1428 0.2967 0.4106 0.3346 0.4688 0.4876 0.4521 hom 7840.08 236 1 229730452 . G A 7840.08 Mask AC=2;AF=1.00;AN=2;DP=236;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7480;MQ=59.67;MQ0=0;QD=33.22;VQSLOD=9.4388;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,233:236:99:7839,638,0 1 229738170 229738170 T G exonic TAF5L synonymous SNV TAF5L:NM_001025247:exon4:c.A744C:p.R248R,TAF5L:NM_014409:exon4:c.A744C:p.R248R 0.57 0.49 0.54 0.76 0.52 0.57 0.5508 0.5128 0.6649 0.7638 0.5581 0.5073 0.5507 0.5557 0.51 0.51 0.51 0.55 0.39 rs3753886 COSM4143494;COSM4143495 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5595 0.5142 0.6665 0.4877 0.7585 0.5648 0.5100 0.5487 0.5537 0.5392 0.5180 0.6304 0.4934 0.7324 0.5639 0.5203 0.5449 hom 3511.45 114 1 229738170 . T G 3511.45 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8761;MQ=58.56;MQ0=0;QD=30.80;VQSLOD=7.6035;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3511,292,0 1 229738236 229738236 G A exonic TAF5L synonymous SNV TAF5L:NM_001025247:exon4:c.C678T:p.P226P,TAF5L:NM_014409:exon4:c.C678T:p.P226P 0.84 0.93 0.72 0.94 0.76 0.79 0.7898 0.9153 0.7831 0.9495 0.7408 0.7536 0.7941 0.7972 0.81 0.92 0.75 0.81 0.82 rs4925500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7901 0.9158 0.7913 0.8316 0.9467 0.7469 0.7516 0.7821 0.7968 0.8106 0.9205 0.7859 0.8510 0.9420 0.7479 0.7506 0.7658 hom 4389.68 132 1 229738236 . G A 4389.68 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7418;MQ=58.88;MQ0=0;QD=33.26;VQSLOD=7.1027;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4389,346,0 1 229772693 229772693 T G exonic URB2 nonsynonymous SNV URB2:NM_001314021:exon4:c.T2333G:p.V778G,URB2:NM_014777:exon4:c.T2333G:p.V778G 0.57 0.48 0.54 0.76 0.52 0.57 0.5515 0.5086 0.6654 0.7640 0.5585 0.5082 0.5530 0.5590 0.51 0.5 0.51 0.54 0.39 rs3811473 COSM5001335 1(pancreas) . . . . . . . . . . . 0.951 0.021 T 0.0 0.026 B 0.0 0.013 B 0.877 0.088 N 1 0.090 P -1.7 0.004 N 1.62 0.282 T 1.77 0.005 N 0.006 0.000 -1.014 0.258 T 0.000 0.000 T . . . -0.649 0.047 0.095 0.100 0.001 0.029 0.077 N c -1.338 -1.317 0.992 0.325 0.707 0.730 0 -2.13 0.067 -0.341 0.078 -0.352 0.070 0.000 0.063 0.005 0.090 3.400 0.068 . . . 0.5596 0.5101 0.6660 0.4903 0.7580 0.5646 0.5105 0.5477 0.5554 0.5389 0.5148 0.6277 0.4967 0.7318 0.5656 0.5211 0.5489 hom 4448.58 128 1 229772693 . T G 4448.58 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=34.75;VQSLOD=10.1094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4448,346,0 1 229790048 229790048 A G exonic URB2 synonymous SNV URB2:NM_001314021:exon9:c.A4290G:p.R1430R,URB2:NM_014777:exon9:c.A4290G:p.R1430R 0.6 0.5 0.58 0.85 0.55 0.57 0.5635 0.5320 0.6969 0.8728 0.5218 0.5129 0.5662 0.5493 0.52 0.52 0.52 0.55 0.38 rs7521953 COSM3750980 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5727 0.5347 0.6956 0.5317 0.8667 0.5272 0.5154 0.5664 0.5482 0.5478 0.5367 0.6531 0.5199 0.8405 0.5347 0.5215 0.5287 hom 7038.97 223 1 229790048 . A G 7038.97 Mask AC=2;AF=1.00;AN=2;DP=223;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5700;MQ=59.37;MQ0=0;QD=31.56;VQSLOD=8.1344;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:7038,554,0 1 230384970 230384970 G A exonic GALNT2 synonymous SNV GALNT2:NM_001291866:exon9:c.G744A:p.T248T,GALNT2:NM_004481:exon9:c.G858A:p.T286T 0.11 0.096 0.075 0.094 0.15 0.13 0.1400 0.0983 0.0746 0.1125 0.1644 0.1559 0.1567 0.1519 0.14 0.099 0.16 0.11 0.16 rs1923950 COSM3750982 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1378 0.0965 0.0796 0.1759 0.1099 0.1633 0.1540 0.1272 0.1501 0.1345 0.0973 0.0943 0.1954 0.1292 0.1619 0.1511 0.1375 het 997.45 98 1 230384970 . G A 997.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.315;DP=98;Dels=0.00;FS=1.825;HRun=0;HaplotypeScore=3.7415;MQ=57.63;MQ0=0;MQRankSum=0.587;QD=10.18;ReadPosRankSum=0.823;VQSLOD=4.9144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,43:98:99:1027,0,1524 1 230461079 230461079 G A exonic PGBD5 synonymous SNV PGBD5:NM_001258311:exon6:c.C1356T:p.C452C 0.24 0.15 0.26 0.49 0.16 0.15 0.1880 0.1545 0.1985 0.4883 0.1456 0.1702 0.1556 0.1338 0.17 0.16 0.17 0.15 0.16 rs2306813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1883 0.1542 0.2017 0.1200 0.4938 0.1527 0.1730 0.1558 0.1293 0.1867 0.1480 0.2201 0.1467 0.4994 0.1626 0.1819 0.1561 het 2958.65 246 1 230461079 . G A 2958.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.972;DP=246;DS;Dels=0.00;FS=2.273;HRun=0;HaplotypeScore=3.7547;MQ=59.30;MQ0=0;MQRankSum=-0.262;QD=12.03;ReadPosRankSum=0.386;VQSLOD=6.1981;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:129,117:246:99:2989,0,3621 1 230841687 230841687 T C exonic AGT synonymous SNV AGT:NM_000029:exon3:c.A1116G:p.L372L 0.97 1. 0.95 1. 0.92 0.99 0.9441 0.9870 0.9691 1 0.9484 0.9161 0.9470 0.9814 0.94 0.98 0.92 0.95 0.89 rs7080 . . Benign|Benign not_specified|Renal_dysplasia RCV000250884.1|RCV000375752.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0266313:267430:204949001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9446 0.9870 0.9663 0.9430 0.9999 0.9422 0.9143 0.9399 0.9816 0.9473 0.9853 0.9403 0.9570 1 0.9427 0.9216 0.9347 hom 6693.38 214 1 230841687 . T C 6693.38 Mask AC=2;AF=1.00;AN=2;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7304;MQ=59.72;MQ0=0;QD=31.28;VQSLOD=8.2717;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6693,521,0 1 230895340 230895340 C A exonic CAPN9 nonsynonymous SNV CAPN9:NM_006615:exon3:c.C366A:p.S122R,CAPN9:NM_016452:exon3:c.C366A:p.S122R 0.15 0.17 0.065 0.076 0.15 0.28 0.1536 0.1647 0.0531 0.0755 0.2274 0.1417 0.1347 0.2784 0.15 0.17 0.14 0.16 0.098 rs28359608 COSM3750984;COSM3750985 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 0.21 0.430 B 0.126 0.474 B 0.043 0.238 N 0.046 0.810 P 2.9 0.842 M -2.48 0.891 D -3.82 0.720 D 0.106 0.112 -0.858 0.514 T 0.003 0.008 T . . . 2.866 0.405 21.7 0.995 0.707 0.685 0.336 D c -0.264 -0.348 0.997 0.353 0.554 0.283 0 -1.09 0.093 0.716 0.253 -1.041 0.020 0.341 0.255 0.398 0.254 4.613 0.117 Peptidase C2\x2c calpain\x2c catalytic domain . . 0.1470 0.1586 0.0529 0.1014 0.0760 0.2230 0.1405 0.1368 0.2684 0.1610 0.1676 0.0632 0.0894 0.0882 0.2195 0.1573 0.1759 het 542.90 53 1 230895340 . C A 542.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.504;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;MQRankSum=0.839;QD=10.24;ReadPosRankSum=-0.370;VQSLOD=6.5441;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,22:53:99:573,0,850 1 230910339 230910339 G A exonic CAPN9 synonymous SNV CAPN9:NM_001319676:exon6:c.G726A:p.K242K,CAPN9:NM_006615:exon8:c.G915A:p.K305K 0.094 0.1 0.11 0.08 0.046 0.14 0.0693 0.0949 0.1067 0.0696 0.0405 0.0474 0.0727 0.1266 0.062 0.095 0.044 0.065 0.016 rs7517389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0696 0.0945 0.1032 0.0792 0.0688 0.0427 0.0457 0.0673 0.1242 0.0607 0.1004 0.0945 0.0662 0.0647 0.0470 0.0392 0.0459 het 1472.52 119 1 230910339 . G A 1472.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.506;DP=119;Dels=0.00;FS=0.690;HRun=2;HaplotypeScore=2.6639;MQ=59.22;MQ0=0;MQRankSum=-0.167;QD=12.37;ReadPosRankSum=-0.933;VQSLOD=6.5513;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1503,0,1635 1 230914729 230914729 A C exonic CAPN9 nonsynonymous SNV CAPN9:NM_001319676:exon7:c.A775C:p.K259Q,CAPN9:NM_016452:exon8:c.A886C:p.K296Q,CAPN9:NM_006615:exon9:c.A964C:p.K322Q 0.33 0.39 0.21 0.19 0.32 0.5 0.3374 0.3823 0.2105 0.1817 0.4137 0.3223 0.3420 0.5099 0.34 0.38 0.32 0.33 0.33 rs1933631 COSM3750987;COSM3750986 1(large_intestine) . . . . . . . . . . . 0.752 0.038 T 0.017 0.250 B 0.005 0.203 B 0.625 0.107 N 1 0.090 P -0.655 0.021 N 2.41 0.155 T 0.37 0.036 N 0.074 0.086 -0.971 0.369 T 0.000 0.000 T . . . -0.827 0.039 0.037 0.595 0.061 0.568 0.299 D c -1.386 -1.295 0.631 0.220 0.487 0.133 0 -3.49 0.044 1.527 0.354 1.199 0.960 0.992 0.373 0.439 0.261 2.078 0.034 Peptidase C2\x2c calpain\x2c catalytic domain ENSG00000135773.8|ENSG00000135773.8 Muscle_Skeletal|Thyroid 0.3277 0.3755 0.2058 0.3158 0.1827 0.4053 0.3188 0.3246 0.4989 0.3381 0.3705 0.2124 0.3278 0.1935 0.4093 0.3242 0.3573 het 860.02 60 1 230914729 . A C 860.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.753;DP=60;Dels=0.00;FS=1.025;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;MQRankSum=-0.321;QD=14.33;ReadPosRankSum=-0.052;VQSLOD=6.0831;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,34:60:99:890,0,665 1 231042732 231042732 T A exonic TTC13 synonymous SNV TTC13:NM_001122835:exon21:c.A2340T:p.V780V,TTC13:NM_024525:exon23:c.A2502T:p.V834V 0.52 0.42 0.66 0.54 0.53 0.5 0.5364 0.4029 0.7120 0.5319 0.6083 0.5275 0.5222 0.5056 0.48 0.41 0.52 0.45 0.6 rs3811502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5275 0.3888 0.6799 0.4316 0.5095 0.6013 0.5189 0.5210 0.4786 0.5177 0.3972 0.6543 0.4371 0.5075 0.6061 0.5594 0.5637 hom 1913.27 66 1 231042732 . T A 1913.27 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.63;MQ0=0;QD=28.99;VQSLOD=8.0323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1946,147,0 1 231398511 231398511 A T exonic GNPAT nonsynonymous SNV GNPAT:NM_001316350:exon3:c.A298T:p.S100C,GNPAT:NM_014236:exon4:c.A481T:p.S161C . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.995 0.832 D 0.000 0.843 D 1 0.810 D 0.75 0.191 N -3.21 0.933 D -4.03 0.755 D 0.888 0.876 0.279 0.872 D 0.749 0.914 D 0.103 0.778 D 5.973 0.821 27.7 0.991 0.511 0.996 0.977 D c 0.432 0.509 1.000 0.747 0.732 0.924 0 5.65 0.868 9.325 0.960 1.199 0.960 1.000 0.715 0.984 0.507 15.884 0.789 Phospholipid/glycerol acyltransferase . . 4.063e-06 0 0 0 0 0 8.959e-06 0 0 . . . . . . . . het 1299.07 116 1 231398511 . A T 1299.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.007;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8151;MQ=58.90;MQ0=0;MQRankSum=1.853;QD=11.20;ReadPosRankSum=0.471;VQSLOD=3.7860;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,50:116:99:1329,0,1816 1 231401902 231401902 G A exonic GNPAT synonymous SNV GNPAT:NM_001316350:exon6:c.G732A:p.E244E,GNPAT:NM_014236:exon7:c.G915A:p.E305E 0.63 0.7 0.63 0.63 0.53 0.63 0.5676 0.6928 0.6236 0.5969 0.4392 0.5338 0.5585 0.6230 0.59 0.69 0.55 0.63 0.53 rs574553 COSM3750988 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Rhizomelic_chondrodysplasia_punctata RCV000245766.2|RCV000334462.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282529:ORPHA177:56692003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5687 0.6955 0.6135 0.6086 0.5950 0.4437 0.5394 0.5701 0.6252 0.5688 0.6918 0.6136 0.6192 0.6114 0.4498 0.5191 0.5317 het 2451.48 177 1 231401902 . G A 2451.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.178;DP=177;Dels=0.00;FS=13.134;HRun=1;HaplotypeScore=4.8086;MQ=58.61;MQ0=0;MQRankSum=-0.272;QD=13.85;ReadPosRankSum=0.481;VQSLOD=3.8476;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,94:177:99:2481,0,1977 1 231488524 231488524 C T exonic SPRTN nonsynonymous SNV SPRTN:NM_032018:exon5:c.C887T:p.P296L 0.53 0.44 0.52 0.52 0.65 0.55 0.5988 0.4535 0.4902 0.5722 0.6953 0.6430 0.6114 0.5619 0.58 0.47 0.64 0.41 0.6 rs2437150 . . . . . . . . . . . . . 0.293 0.148 T 0.0 0.026 B 0.0 0.013 B 0.514 0.118 N 1 0.090 P 0.73 0.189 N 0.99 0.418 T -1.04 0.273 N 0.082 0.075 -0.903 0.477 T 0.000 0.000 T . . . 0.053 0.099 3.111 0.269 0.013 0.165 0.192 N c -1.252 -1.235 0.997 0.348 0.707 0.730 0 1.26 0.204 0.149 0.159 -0.317 0.077 0.000 0.063 0.001 0.043 1.827 0.029 . ENSG00000010072.11|ENSG00000010072.11 Heart_Left_Ventricle|Testis 0.5980 0.4516 0.5065 0.5926 0.5762 0.6879 0.6427 0.6109 0.5550 0.5920 0.4543 0.5227 0.6490 0.5725 0.6947 0.6493 0.6478 hom 1733.25 49 1 231488524 . C T 1733.25 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.37;VQSLOD=14.2873;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1766,138,0 1 231830295 231830295 G A exonic DISC1 nonsynonymous SNV DISC1:NM_001012957:exon2:c.G791A:p.R264Q,DISC1:NM_001012958:exon2:c.G791A:p.R264Q,DISC1:NM_001012959:exon2:c.G791A:p.R264Q,DISC1:NM_001164537:exon2:c.G791A:p.R264Q,DISC1:NM_001164538:exon2:c.G791A:p.R264Q,DISC1:NM_001164539:exon2:c.G791A:p.R264Q,DISC1:NM_001164540:exon2:c.G791A:p.R264Q,DISC1:NM_001164541:exon2:c.G791A:p.R264Q,DISC1:NM_001164542:exon2:c.G791A:p.R264Q,DISC1:NM_001164544:exon2:c.G791A:p.R264Q,DISC1:NM_001164545:exon2:c.G791A:p.R264Q,DISC1:NM_001164546:exon2:c.G791A:p.R264Q,DISC1:NM_001164547:exon2:c.G791A:p.R264Q,DISC1:NM_001164548:exon2:c.G791A:p.R264Q,DISC1:NM_001164549:exon2:c.G791A:p.R264Q,DISC1:NM_001164550:exon2:c.G791A:p.R264Q,DISC1:NM_001164551:exon2:c.G791A:p.R264Q,DISC1:NM_001164552:exon2:c.G791A:p.R264Q,DISC1:NM_001164553:exon2:c.G791A:p.R264Q,DISC1:NM_001164554:exon2:c.G791A:p.R264Q,DISC1:NM_001164555:exon2:c.G791A:p.R264Q,DISC1:NM_018662:exon2:c.G791A:p.R264Q 0.23 0.12 0.33 0.22 0.34 0.22 0.2923 0.1398 0.3757 0.2432 0.2972 0.3147 0.3009 0.2631 0.26 0.15 0.32 0.15 0.32 rs3738401 . . not provided not_provided RCV000084637.1 MedGen CN221809 . . . . . . 0.39 0.112 T 0.001 0.274 B 0.001 0.121 B 0.093 0.025 N 1 0.090 P -0.865 0.015 N 1.84 0.247 T -0.11 0.087 N 0.03 0.022 -0.991 0.324 T 0.000 0.000 T . . . -0.853 0.038 0.033 0.823 0.136 0.007 0.030 N c -2.086 -2.153 1.000 0.747 0.554 0.283 0 -9.87 0.004 -1.132 0.033 -1.956 0.005 0.000 0.063 0.000 0.016 1.752 0.028 . ENSG00000162946.16|ENSG00000162946.16 Nerve_Tibial|Whole_Blood 0.2970 0.1370 0.3621 0.3030 0.2451 0.2879 0.3175 0.3177 0.2633 0.2536 0.1361 0.3532 0.2947 0.2481 0.2788 0.3056 0.3252 hom 2717.46 81 1 231830295 . G A 2717.46 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9652;MQ=58.42;MQ0=0;QD=33.55;VQSLOD=9.0051;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2750,217,0 1 232534957 232534957 T C exonic SIPA1L2 synonymous SNV SIPA1L2:NM_020808:exon21:c.A5085G:p.R1695R 0.4 0.26 0.47 0.74 0.27 0.34 0.3342 0.2542 0.5825 0.7388 0.2941 0.2551 0.3171 0.3340 0.25 0.25 0.25 0.34 0.26 rs12043251 COSM3750995;COSM3750994 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3443 0.2530 0.5596 0.2189 0.7395 0.2993 0.2566 0.2981 0.3322 0.2853 0.2540 0.4867 0.2067 0.7291 0.2934 0.2463 0.2541 hom 3166.23 99 1 232534957 . T C 3166.23 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.77;MQ0=0;QD=31.98;VQSLOD=9.3121;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3199,247,0 1 232568041 232568041 G A exonic SIPA1L2 nonsynonymous SNV SIPA1L2:NM_020808:exon14:c.C4208T:p.S1403L 0.062 0.013 0.13 0.04 0.099 0.064 0.0895 0.0269 0.1434 0.0373 0.1102 0.1009 0.0882 0.0615 0.076 0.03 0.097 0.054 0.074 rs1547742 COSM1340113;COSM4143520 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.018 0.512 D 0.93 0.622 P 0.101 0.444 B 0.171 0.174 N 0.192 0.369 P 1.95 0.526 M -1.25 0.791 T -2.02 0.465 N 0.252 0.440 -0.860 0.513 T 0.007 0.025 T . . . 3.918 0.528 23.5 0.998 0.919 0.962 0.680 D c 0.300 0.327 1.000 0.500 0.706 0.609 0 5.01 0.663 4.622 0.607 0.143 0.228 0.997 0.399 0.269 0.231 14.954 0.706 Rap GTPase activating protein domain . . 0.0927 0.0265 0.1348 0.1026 0.0372 0.1100 0.1017 0.0965 0.0616 0.0810 0.0265 0.1146 0.1523 0.0333 0.1069 0.1074 0.0978 het 817.04 61 1 232568041 . G A 817.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.922;DP=61;Dels=0.00;FS=6.141;HRun=1;HaplotypeScore=0.6651;MQ=59.62;MQ0=0;MQRankSum=-1.017;QD=13.39;ReadPosRankSum=1.190;VQSLOD=5.2362;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,31:61:99:847,0,704 1 232650750 232650750 A G exonic SIPA1L2 synonymous SNV SIPA1L2:NM_020808:exon1:c.T336C:p.S112S 0.84 0.99 0.84 0.5 0.95 0.84 0.8710 0.9864 0.7741 0.4609 0.8731 0.9296 0.8725 0.8463 0.95 0.98 0.93 0.9 0.89 rs3795366 COSM3997337 5(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8672 0.9872 0.7893 0.9259 0.4656 0.8740 0.9334 0.9056 0.8475 0.9058 0.9857 0.8222 0.9139 0.4763 0.8709 0.9193 0.8837 hom 8208.87 250 1 232650750 . A G 8208.87 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7653;MQ=59.65;MQ0=0;QD=32.84;VQSLOD=9.6541;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8208,668,0 1 232650867 232650867 C T exonic SIPA1L2 synonymous SNV SIPA1L2:NM_020808:exon1:c.G219A:p.K73K 0.56 0.46 0.64 0.33 0.8 0.61 0.6872 0.4925 0.5720 0.2973 0.7610 0.7895 0.6956 0.6435 0.71 0.51 0.8 0.6 0.71 rs4649383 COSM3746863 5(haematopoietic_and_lymphoid_tissue);1(liver);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6869 0.4899 0.5824 0.7547 0.2991 0.7623 0.7950 0.7233 0.6420 0.6708 0.4977 0.6005 0.7517 0.3151 0.7534 0.7889 0.7291 hom 6339.09 190 1 232650867 . C T 6339.09 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4610;MQ=58.64;MQ0=0;QD=33.36;VQSLOD=5.6336;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:6338,509,0 1 232940953 232940953 T C exonic MAP10 nonsynonymous SNV MAP10:NM_019090:exon1:c.T184C:p.S62P 0.12 0.19 0.084 0.14 0.057 0.098 0.0726 0.1893 0.0931 0.1403 0.0207 0.0452 0.0603 0.0863 0.089 0.18 0.047 0.11 . rs10797593 COSM146821 1(stomach) . . . . . . . . . . . 0.097 0.309 T . . . . . . . . . 1 0.090 P . . . . . . -0.23 0.107 N 0.035 0.015 -1.043 0.164 T 0.000 0.001 T . . . 0.075 0.101 3.346 0.973 0.328 0.044 0.098 N c -0.687 -0.894 1.000 0.747 0.407 0.055 2 0.208 0.144 -0.747 0.049 -0.103 0.116 0.000 0.063 0.001 0.043 2.071 0.034 . ENSG00000212916.3 Adipose_Subcutaneous 0.0714 0.1909 0.0890 0.0614 0.1438 0.0217 0.0462 0.0639 0.0844 0.0858 0.1834 0.0895 0.0695 0.1389 0.0226 0.0415 0.0356 het 2721.93 163 1 232940953 . T C 2721.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.258;DP=163;DS;Dels=0.00;FS=2.166;HRun=1;HaplotypeScore=2.9385;MQ=59.22;MQ0=0;MQRankSum=0.872;QD=16.70;ReadPosRankSum=-0.582;VQSLOD=6.1350;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,96:163:99:2752,0,1781 1 232941153 232941153 C T exonic MAP10 synonymous SNV MAP10:NM_019090:exon1:c.C384T:p.F128F 0.53 0.084 0.59 0.66 0.71 0.76 0.6537 0.1651 0.6029 0.6440 0.7247 0.6973 0.6842 0.7585 0.53 0.19 0.69 0.46 . rs12409898 COSM4143521;COSM4143522 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6534 0.1475 0.6033 0.6606 0.6443 0.7149 0.6961 0.6767 0.7575 0.5460 0.1602 0.5955 0.6589 0.6547 0.7116 0.7053 0.6998 het 156.75 24 1 232941153 . C T 156.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.908;DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.3670;MQ=60.00;MQ0=0;MQRankSum=-0.060;QD=6.53;ReadPosRankSum=-1.252;VQSLOD=5.0543;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,9:24:99:187,0,419 1 232941677 232941677 G T exonic MAP10 nonsynonymous SNV MAP10:NM_019090:exon1:c.G908T:p.R303L 0.13 0.25 0.085 0.14 0.052 0.095 0.0879 0.2737 0.1129 0.1643 0.0273 0.0514 0.0673 0.0941 0.096 0.2 0.044 0.13 . rs3766497 . . . . . . . . . . . . . 0.318 0.136 T 0.011 0.147 B 0.006 0.112 B 0.805 0.068 U 1 0.090 P 0.345 0.112 N . . . -1.26 0.318 N 0.073 0.062 -1.009 0.272 T 0.000 0.000 T . . . 0.521 0.144 7.588 0.819 0.135 0.052 0.109 N c -1.193 -1.176 1.000 0.747 0.267 0.040 1 0.452 0.158 -0.336 0.078 -0.408 0.061 0.000 0.063 0.000 0.016 4.239 0.100 . ENSG00000212916.3 Adipose_Subcutaneous 0.0729 0.2381 0.0897 0.0606 0.1439 0.0216 0.0437 0.0643 0.0838 0.0982 0.2311 0.0933 0.0695 0.1393 0.0223 0.0392 0.0356 het 175.54 22 1 232941677 . G T 175.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.974;DP=22;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=57.41;MQ0=0;MQRankSum=0.000;QD=7.98;ReadPosRankSum=0.211;VQSLOD=6.0673;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,7:22:99:206,0,359 1 232942251 232942251 A G exonic MAP10 synonymous SNV MAP10:NM_019090:exon1:c.A1482G:p.L494L 0.13 0.25 0.084 0.14 0.052 0.095 0.0752 0.2350 0.0935 0.1405 0.0195 0.0432 0.0615 0.0861 0.1 0.22 0.045 0.13 . rs12048236 COSM146822;COSM3997339 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0731 0.2349 0.0899 0.0604 0.1442 0.0204 0.0439 0.0645 0.0841 0.0976 0.2297 0.0931 0.0695 0.1383 0.0218 0.0391 0.0356 het 806.98 58 1 232942251 . A G 806.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.906;DP=58;Dels=0.00;FS=1.095;HRun=0;HaplotypeScore=2.6601;MQ=58.80;MQ0=0;MQRankSum=-0.303;QD=13.91;ReadPosRankSum=0.117;VQSLOD=6.3722;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,30:58:99:837,0,786 1 233122127 233122127 C T exonic PCNX2 nonsynonymous SNV PCNX2:NM_014801:exon33:c.G5951A:p.R1984Q 0.17 0.22 0.13 0.17 0.2 0.12 0.2576 0.2861 0.2 0.2580 0.3134 0.2778 0.2897 0.1782 0.23 0.23 0.24 0.18 . rs41309639 COSM5617813;COSM425603 1(breast) . . . . . . . . . . . 1.0 0.010 T 0.003 0.154 B 0.002 0.104 B 0.006 0.324 N 0.831 0.287 P 0.22 0.096 N 3.33 0.197 T 1.26 0.011 N 0.026 0.034 -0.956 0.399 T 0.000 0.000 T . . . 0.881 0.178 9.952 0.310 0.017 0.260 0.226 N c -0.900 -0.729 0.970 0.292 0.635 0.413 0 1.57 0.224 1.399 0.340 0.013 0.140 1.000 0.715 0.994 0.587 3.177 0.061 . ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7|ENSG00000135778.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.1979 0.2317 0.1289 0.1862 0.1966 0.2100 0.2277 0.2049 0.1477 0.2228 0.2377 0.1483 0.1921 0.1745 0.2111 0.2275 0.2118 het 240.81 15 1 233122127 . C T 240.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.184;DP=15;Dels=0.00;FS=2.515;HRun=0;HaplotypeScore=0.0000;MQ=56.85;MQ0=0;MQRankSum=-0.919;QD=16.05;ReadPosRankSum=1.531;VQSLOD=2.9692;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,10:15:99:271,0,142 1 233515413 233515413 G A exonic MAP3K21 synonymous SNV MAP3K21:NM_032435:exon9:c.G2661A:p.P887P 0.22 0.014 0.16 0.33 0.35 0.29 0.3063 0.0618 0.1606 0.3721 0.4416 0.3530 0.2905 0.2843 0.25 0.067 0.34 0.24 0.27 rs1402815 COSM3751004 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3061 0.0590 0.1719 0.2775 0.3724 0.4481 0.3517 0.3090 0.2811 0.2806 0.0655 0.1754 0.2781 0.4086 0.4392 0.3578 0.3316 hom 5293.87 169 1 233515413 . G A 5293.87 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=59.74;MQ0=0;QD=31.32;VQSLOD=8.8096;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5293,418,0 1 234041422 234041422 G C exonic SLC35F3 synonymous SNV SLC35F3:NM_173508:exon2:c.G201C:p.P67P 0.45 0.44 0.31 0.45 0.47 0.54 0.4853 0.4506 0.2770 0.4394 0.5135 0.5125 0.4823 0.5559 0.5 0.45 0.52 0.36 0.5 rs57010808 COSM3723590 1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4757 0.4562 0.2810 0.4097 0.4418 0.5161 0.5187 0.4535 0.5566 0.4992 0.4589 0.3103 0.4437 0.4570 0.5306 0.5301 0.5224 het 1957.75 156 1 234041422 . G C 1957.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.686;DP=156;Dels=0.00;FS=2.018;HRun=2;HaplotypeScore=1.8808;MQ=59.48;MQ0=0;MQRankSum=0.374;QD=12.55;ReadPosRankSum=1.055;VQSLOD=5.9862;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,80:156:99:1988,0,1978 1 234529552 234529552 C T exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon27:c.G4275A:p.A1425A 0.51 0.62 0.57 0.49 0.44 0.4 0.4594 0.5903 0.5820 0.4994 0.4520 0.4300 0.4161 0.3946 0.49 0.59 0.43 0.51 0.43 rs2175594 COSM3997343 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4621 0.5904 0.5746 0.4223 0.5064 0.4446 0.4306 0.4498 0.3926 0.4826 0.5791 0.5513 0.3993 0.4881 0.4550 0.4332 0.4418 het 2681.64 201 1 234529552 . C T 2681.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.981;DP=201;DS;Dels=0.00;FS=4.821;HRun=0;HaplotypeScore=5.9218;MQ=59.49;MQ0=0;MQRankSum=-1.030;QD=13.34;ReadPosRankSum=0.380;VQSLOD=4.5630;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:99,101:201:99:2712,0,2434 1 234529570 234529570 G A exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon27:c.C4257T:p.V1419V 0.5 0.61 0.57 0.49 0.43 0.4 0.4539 0.5762 0.5790 0.4992 0.4448 0.4243 0.4137 0.3911 0.47 0.57 0.43 0.48 0.43 rs2175593 COSM3751006 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4555 0.5720 0.5705 0.4102 0.5063 0.4388 0.4240 0.4429 0.3878 0.4748 0.5651 0.5456 0.3953 0.4887 0.4469 0.4279 0.4325 het 2139.66 163 1 234529570 . G A 2139.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.473;DP=163;DS;Dels=0.00;FS=5.126;HRun=1;HaplotypeScore=3.6820;MQ=59.37;MQ0=0;MQRankSum=-0.619;QD=13.13;ReadPosRankSum=1.004;VQSLOD=5.1657;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,80:163:99:2170,0,2364 1 234546245 234546245 C T exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon23:c.G3738A:p.T1246T 0.34 0.21 0.38 0.4 0.39 0.36 0.3638 0.2315 0.3770 0.4190 0.3498 0.3815 0.3497 0.3416 0.34 0.24 0.39 0.33 0.31 rs1141264 COSM3751007 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3571 0.2207 0.3421 0.3910 0.4072 0.3468 0.3794 0.3552 0.3259 0.3455 0.2356 0.3720 0.4272 0.4413 0.3539 0.3928 0.3646 het 880.19 111 1 234546245 . C T 880.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.820;DP=111;Dels=0.00;FS=2.554;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=-0.781;QD=7.93;ReadPosRankSum=-0.158;VQSLOD=5.3080;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,39:111:99:910,0,1728 1 234582651 234582651 T C exonic TARBP1 nonsynonymous SNV TARBP1:NM_005646:exon12:c.A2032G:p.S678G 0.3 0.31 0.38 0.3 0.29 0.25 0.2991 0.3323 0.4333 0.3146 0.3066 0.2782 0.3194 0.2566 0.29 0.33 0.27 0.14 0.3 rs4920246 COSM3997345 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1 0.090 P -2.015 0.002 N 3.51 0.050 T 1.18 0.011 N 0.039 0.019 -0.924 0.450 T 0.000 0.000 T . . . -0.978 0.033 0.018 0.135 0.003 0.009 0.036 N c -1.289 -1.109 0.006 0.111 0.737 0.974 0 4.29 0.502 1.841 0.386 -0.320 0.077 0.933 0.321 0.040 0.157 9.307 0.369 . . . 0.3050 0.3302 0.4371 0.2858 0.3104 0.3057 0.2743 0.3087 0.2620 0.2944 0.3362 0.4159 0.2815 0.3364 0.2816 0.2638 0.2679 het 2293.52 173 1 234582651 . T C 2293.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.570;DP=173;Dels=0.00;FS=1.189;HRun=1;HaplotypeScore=6.4328;MQ=59.36;MQ0=0;MQRankSum=0.723;QD=13.26;ReadPosRankSum=-0.693;VQSLOD=4.6688;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,90:173:99:2324,0,2343 1 234584231 234584231 C T exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon11:c.G1956A:p.Q652Q 0.29 0.26 0.37 0.3 0.29 0.25 0.2921 0.2871 0.4289 0.3130 0.2978 0.2746 0.3139 0.2562 0.27 0.28 0.27 0.27 0.25 rs2102596 COSM3997346 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2993 0.2855 0.4340 0.2859 0.3098 0.2973 0.2708 0.3055 0.2614 0.2786 0.2906 0.4125 0.2815 0.3362 0.2758 0.2596 0.2633 het 847.72 99 1 234584231 . C T 847.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.448;DP=99;Dels=0.00;FS=1.775;HRun=1;HaplotypeScore=2.5275;MQ=58.39;MQ0=0;MQRankSum=1.197;QD=8.56;ReadPosRankSum=1.778;VQSLOD=4.9584;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,36:99:99:878,0,1667 1 234603322 234603322 A T exonic TARBP1 nonsynonymous SNV TARBP1:NM_005646:exon4:c.T1174A:p.S392T 0.17 0.098 0.21 0.26 0.036 0.27 0.1060 0.0925 0.2592 0.2528 0.0923 0.0373 0.1040 0.2129 0.056 0.09 0.038 0.18 0.016 rs60079444 COSM3997347 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.338 N 1 0.090 P -1.905 0.002 N 3.55 0.048 T 0.79 0.019 N 0.023 0.006 -0.937 0.431 T 0.000 0.000 T . . . 0.533 0.145 7.677 0.296 0.016 0.094 0.150 N c -0.849 -0.594 0.048 0.147 0.732 0.924 0 2.75 0.313 1.262 0.324 -0.219 0.097 0.999 0.424 0.997 0.653 4.429 0.109 . . . 0.1064 0.0912 0.2422 0.0367 0.2410 0.0885 0.0350 0.0870 0.2024 0.0752 0.0885 0.2093 0.0364 0.2218 0.0979 0.0378 0.1049 het 600.40 44 1 234603322 . A T 600.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.400;DP=44;Dels=0.00;FS=2.788;HRun=0;HaplotypeScore=1.9907;MQ=58.08;MQ0=0;MQRankSum=1.327;QD=13.65;ReadPosRankSum=-0.037;VQSLOD=4.6166;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,23:44:99:630,0,530 1 234603386 234603386 G T exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon4:c.C1110A:p.L370L 0.12 0.1 0.14 . 0.31 0.073 0.2422 0.1436 0.1256 0.0018 0.3410 0.3167 0.2755 0.1567 0.25 0.14 0.3 0.12 0.22 rs270502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2312 0.1346 0.1311 0.2016 0.0010 0.3320 0.3059 0.2416 0.1337 0.2469 0.1345 0.1699 0.2119 0.0031 0.3121 0.3274 0.2633 het 192.28 28 1 234603386 . G T 192.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.810;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=6.87;ReadPosRankSum=0.517;VQSLOD=10.3493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,11:28:99:222,0,467 1 234606998 234606998 A G exonic TARBP1 synonymous SNV TARBP1:NM_005646:exon3:c.T1035C:p.H345H 0.29 0.12 0.25 0.75 0.049 0.35 0.1655 0.1167 0.3049 0.7537 0.1361 0.0468 0.1537 0.2762 0.068 0.11 0.046 0.24 0.016 rs3754307 COSM4143533 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1605 0.1140 0.2722 0.0472 0.7550 0.1349 0.0432 0.1252 0.2720 0.1212 0.1095 0.2482 0.0397 0.7565 0.1454 0.0478 0.1347 het 945.06 85 1 234606998 . A G 945.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.244;DP=85;Dels=0.00;FS=2.906;HRun=0;HaplotypeScore=0.8321;MQ=59.29;MQ0=0;MQRankSum=-0.049;QD=11.12;ReadPosRankSum=-1.518;VQSLOD=6.3200;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,44:85:99:975,0,864 1 235383188 235383188 A G exonic ARID4B synonymous SNV ARID4B:NM_001206794:exon16:c.T1503C:p.D501D,ARID4B:NM_016374:exon16:c.T1503C:p.D501D,ARID4B:NM_031371:exon16:c.T1503C:p.D501D 0.45 0.44 0.51 0.25 0.48 0.6 0.4778 0.4612 0.5688 0.2541 0.5005 0.4587 0.5066 0.6083 0.47 0.48 0.46 0.49 0.43 rs4659654 COSM425633 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4785 0.4620 0.5521 0.4466 0.2444 0.4982 0.4610 0.4777 0.6005 0.4589 0.4658 0.5490 0.4404 0.2364 0.4922 0.4652 0.4786 hom 2802.31 92 1 235383188 . A G 2802.31 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4385;MQ=58.68;MQ0=0;QD=30.46;VQSLOD=9.2249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2835,223,0 1 235392546 235392546 T C exonic ARID4B synonymous SNV ARID4B:NM_001206794:exon11:c.A897G:p.E299E,ARID4B:NM_016374:exon11:c.A897G:p.E299E,ARID4B:NM_031371:exon11:c.A897G:p.E299E 0.45 0.43 0.51 0.25 0.48 0.6 0.4783 0.4539 0.5697 0.2547 0.5012 0.4597 0.5044 0.6099 0.46 0.47 0.46 0.49 0.4 rs12731746 COSM3997348 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4807 0.4587 0.5575 0.4487 0.2498 0.4986 0.4626 0.4785 0.6057 0.4566 0.4571 0.5490 0.4404 0.2379 0.4934 0.4648 0.4806 hom 2290.84 68 1 235392546 . T C 2290.84 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.36;MQ0=0;QD=33.69;VQSLOD=9.5339;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2324,178,0 1 235652513 235652513 T C exonic B3GALNT2 synonymous SNV B3GALNT2:NM_152490:exon3:c.A321G:p.E107E,B3GALNT2:NM_001277155:exon4:c.A444G:p.E148E 0.68 0.59 0.71 0.84 0.51 0.78 0.5840 0.5653 0.7741 0.8609 0.4766 0.4932 0.5628 0.7282 0.52 0.56 0.5 0.71 0.5 rs291396 COSM4143540 1(thyroid) Benign not_specified RCV000248064.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5890 0.5703 0.7561 0.5106 0.8631 0.4743 0.4940 0.5534 0.7218 0.5354 0.5707 0.7005 0.4669 0.8606 0.4693 0.4878 0.5307 het 2205.11 195 1 235652513 . T C 2205.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.131;DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9638;MQ=59.22;MQ0=0;MQRankSum=-0.587;QD=11.31;ReadPosRankSum=0.159;VQSLOD=6.0849;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,90:195:99:2235,0,2803 1 235715523 235715523 A G exonic GNG4 synonymous SNV GNG4:NM_004485:exon3:c.T114C:p.A38A,GNG4:NM_001098721:exon4:c.T114C:p.A38A,GNG4:NM_001098722:exon4:c.T114C:p.A38A 0.63 0.59 0.66 0.84 0.49 0.59 0.5815 0.5977 0.7144 0.8604 0.6165 0.5181 0.5782 0.5747 0.54 0.6 0.51 0.65 0.52 rs14326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5852 0.5944 0.6972 0.4280 0.8603 0.6245 0.5170 0.5442 0.5787 0.5870 0.5998 0.6483 0.4503 0.8700 0.6147 0.5426 0.5745 hom 5885.84 177 1 235715523 . A G 5885.84 Mask AC=2;AF=1.00;AN=2;DP=177;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.61;MQ0=0;QD=33.25;VQSLOD=9.5222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5885,469,0 1 235940450 235940450 C T exonic LYST synonymous SNV LYST:NM_000081:exon17:c.G5373A:p.K1791K,LYST:NM_001301365:exon17:c.G5373A:p.K1791K 0.3 0.49 0.3 0.066 0.43 0.16 0.3483 0.4968 0.2727 0.0604 0.4280 0.4046 0.3455 0.1993 0.44 0.51 0.4 0.32 0.3 rs2273584 COSM3746866 1(liver) Benign|Benign not_specified|Chédiak-Higashi_syndrome RCV000246380.1|RCV000308180.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0007965:214500:ORPHA167:111396008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3442 0.5016 0.2772 0.3649 0.0588 0.4349 0.4053 0.3618 0.2020 0.4193 0.5043 0.3170 0.3533 0.0509 0.4495 0.4119 0.3840 het 1187.22 103 1 235940450 . C T 1187.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.222;DP=103;Dels=0.00;FS=0.772;HRun=3;HaplotypeScore=2.6598;MQ=59.33;MQ0=0;MQRankSum=-0.030;QD=11.53;ReadPosRankSum=-0.513;VQSLOD=6.3845;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,47:103:99:1217,0,1605 1 235945294 235945294 T C exonic LYST synonymous SNV LYST:NM_000081:exon15:c.A4956G:p.L1652L,LYST:NM_001301365:exon15:c.A4956G:p.L1652L 0.3 0.49 0.3 0.066 0.43 0.18 0.3501 0.4976 0.2738 0.0605 0.4285 0.4055 0.3466 0.2059 0.44 0.51 0.4 0.32 0.3 rs6696123 COSM3746867 1(liver) Benign|Benign not_specified|Chédiak-Higashi_syndrome RCV000253208.1|RCV000398616.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0007965:214500:ORPHA167:111396008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3453 0.5024 0.2775 0.3666 0.0588 0.4352 0.4056 0.3631 0.2078 0.4199 0.5056 0.3150 0.3543 0.0509 0.4508 0.4122 0.3847 het 1020.64 90 1 235945294 . T C 1020.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.825;DP=90;Dels=0.00;FS=0.796;HRun=0;HaplotypeScore=6.8738;MQ=57.42;MQ0=0;MQRankSum=0.519;QD=11.34;ReadPosRankSum=-0.753;VQSLOD=4.3960;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,41:90:99:1051,0,1138 1 235972435 235972435 T C exonic LYST synonymous SNV LYST:NM_000081:exon5:c.A1683G:p.L561L,LYST:NM_001301365:exon5:c.A1683G:p.L561L 0.3 0.49 0.3 0.067 0.42 0.17 0.3499 0.4977 0.2742 0.0602 0.4284 0.4054 0.3466 0.2054 0.44 0.51 0.4 0.29 0.3 rs3820553 COSM3746868 1(breast);1(liver) Benign|Benign not_specified|Chédiak-Higashi_syndrome RCV000243167.1|RCV000369958.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0007965:214500:ORPHA167:111396008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3455 0.5028 0.2781 0.3652 0.0588 0.4355 0.4060 0.3644 0.2076 0.4199 0.5051 0.3162 0.3543 0.0514 0.4499 0.4125 0.3852 het 1739.06 150 1 235972435 . T C 1739.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.021;DP=150;Dels=0.01;FS=2.955;HRun=0;HaplotypeScore=1.6545;MQ=59.06;MQ0=1;MQRankSum=-0.051;QD=11.52;ReadPosRankSum=-0.134;VQSLOD=6.6324;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,66:150:99:1769,0,2191 1 235972867 235972867 T C exonic LYST synonymous SNV LYST:NM_000081:exon5:c.A1251G:p.Q417Q,LYST:NM_001301365:exon5:c.A1251G:p.Q417Q 0.3 0.49 0.3 0.066 0.43 0.17 0.3500 0.5 0.2741 0.0601 0.4285 0.4055 0.3466 0.2055 0.44 0.51 0.4 0.32 0.3 rs1063128 COSM3746869 1(liver) Benign|Benign not_specified|Chédiak-Higashi_syndrome RCV000246231.1|RCV000271690.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0007965:214500:ORPHA167:111396008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3455 0.5033 0.2780 0.3653 0.0587 0.4355 0.4061 0.3645 0.2076 0.4197 0.5041 0.3170 0.3543 0.0508 0.4499 0.4128 0.3855 het 1312.11 105 1 235972867 . T C 1312.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.599;DP=105;Dels=0.00;FS=6.230;HRun=0;HaplotypeScore=1.9981;MQ=59.17;MQ0=0;MQRankSum=-0.445;QD=12.50;ReadPosRankSum=0.298;VQSLOD=5.4043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,52:105:99:1342,0,1515 1 236175339 236175339 T C exonic NID1 synonymous SNV NID1:NM_002508:exon12:c.A2409G:p.V803V 0.7 0.8 0.64 0.77 0.5 0.73 0.5915 0.7652 0.7036 0.7648 0.6244 0.5015 0.5774 0.6634 0.59 0.76 0.5 0.71 0.54 rs2031487 COSM3746870 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5900 0.7674 0.6895 0.4372 0.7652 0.6231 0.4988 0.5398 0.6587 0.6205 0.7529 0.6523 0.3742 0.7710 0.6312 0.5293 0.6 hom 2902.17 79 1 236175339 . T C 2902.17 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7987;MQ=58.94;MQ0=0;QD=36.74;VQSLOD=9.2894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2935,235,0 1 236413230 236413230 T A exonic ERO1B nonsynonymous SNV ERO1B:NM_019891:exon5:c.A386T:p.D129V 0.34 0.14 0.36 0.13 0.6 0.52 0.4791 0.1830 0.2851 0.1208 0.5240 0.5871 0.5188 0.5317 0.46 0.19 0.6 0.29 0.52 rs2477599 COSM3751015 1(large_intestine) . . . . . . . . . . . 0.097 0.453 T 0.92 0.490 P 0.491 0.455 P 0.000 0.497 D 0.000 0.588 P 1.91 0.513 L -1.59 0.821 D -3.46 0.734 D 0.17 0.635 -0.890 0.490 T 0.000 0.000 T . . . 4.121 0.553 23.8 0.990 0.494 0.939 0.594 D c -0.056 0.041 0.043 0.146 0.732 0.924 0 4.72 0.591 4.380 0.591 0.079 0.188 1.000 0.715 0.834 0.348 11.204 0.478 . ENSG00000086619.9|ENSG00000086619.9|ENSG00000086619.9|ENSG00000086619.9|ENSG00000086619.9 Adrenal_Gland|Artery_Aorta|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal 0.4737 0.1717 0.2927 0.6061 0.1164 0.5243 0.5871 0.5034 0.5215 0.4273 0.1818 0.3693 0.5993 0.1306 0.5222 0.5749 0.5051 hom 2323.71 88 1 236413230 . T A 2323.71 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7340;MQ=58.29;MQ0=0;QD=26.41;VQSLOD=7.2865;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2357,175,0 1 236557771 236557771 G A exonic EDARADD nonsynonymous SNV EDARADD:NM_145861:exon1:c.G27A:p.M9I 0.78 0.47 0.86 0.92 0.82 0.94 0.8308 0.5333 0.9129 0.9191 0.8096 0.8328 0.8499 0.9138 0.74 0.54 0.84 0.72 0.85 rs966365 COSM3746871 1(liver) Benign|Benign not_specified|Hypohidrotic_Ectodermal_Dysplasia\x2c_Recessive RCV000249322.1|RCV000262285.1 MedGen|MedGen CN169374|CN239465 . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B 0.683 0.102 U 1 0.090 P 1.845 0.488 L -0.73 0.731 T -0.36 0.131 N 0.061 0.045 -0.991 0.323 T 0.000 0.000 T . . . 0.075 0.101 3.346 0.907 0.194 0.036 0.088 N c -0.993 -1.045 1.000 0.747 0.455 0.088 0 1.33 0.209 -0.069 0.114 -0.442 0.057 0.000 0.063 0.001 0.043 3.147 0.060 . . . 0.8412 0.5350 0.9075 0.8500 0.9192 0.8153 0.8363 0.8363 0.9122 0.7534 0.5436 0.8735 0.8576 0.9025 0.8175 0.8304 0.8279 hom 4755.02 159 1 236557771 . G A 4755.02 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=1;QD=29.72;VQSLOD=8.9978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:159:99:4755,364,0 1 236700807 236700807 T A exonic LGALS8 nonsynonymous SNV LGALS8:NM_201544:exon3:c.T56A:p.F19Y,LGALS8:NM_006499:exon4:c.T56A:p.F19Y,LGALS8:NM_201543:exon4:c.T56A:p.F19Y,LGALS8:NM_201545:exon4:c.T56A:p.F19Y 0.5 0.44 0.51 0.48 0.68 0.41 0.6102 0.4866 0.5158 0.4872 0.7342 0.6833 0.6044 0.4741 0.62 0.49 0.68 0.53 0.63 rs1126407 COSM146350 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.076 T 0.0 0.067 B 0.002 0.154 B 0.000 0.559 N 1.000 0.182 P -0.725 0.018 N 2.74 0.117 T -0.29 0.117 N 0.106 0.271 -0.982 0.346 T 0.000 0.000 T . . . 1.435 0.235 12.97 0.771 0.114 0.251 0.224 N c -0.749 -0.498 0.922 0.267 0.732 0.924 0 5.45 0.796 2.107 0.412 0.200 0.252 1.000 0.715 0.959 0.439 10.591 0.443 Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1|ENSG00000116977.14 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6120 0.4868 0.5333 0.6019 0.4856 0.7376 0.6865 0.6189 0.4716 0.6281 0.4934 0.5346 0.5993 0.5031 0.7428 0.6957 0.6779 hom 2018.77 71 1 236700807 . T A 2018.77 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.68;MQ0=0;QD=28.43;VQSLOD=7.9008;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2052,162,0 1 236700823 236700823 T C exonic LGALS8 synonymous SNV LGALS8:NM_201544:exon3:c.T72C:p.P24P,LGALS8:NM_006499:exon4:c.T72C:p.P24P,LGALS8:NM_201543:exon4:c.T72C:p.P24P,LGALS8:NM_201545:exon4:c.T72C:p.P24P 0.5 0.45 0.51 0.48 0.68 0.41 0.6100 0.4868 0.5151 0.4878 0.7343 0.6831 0.6053 0.4731 0.62 0.49 0.68 0.5 0.63 rs1041934 COSM146830 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6121 0.4870 0.5336 0.6016 0.4860 0.7377 0.6866 0.6191 0.4717 0.6282 0.4938 0.5346 0.5993 0.5037 0.7427 0.6957 0.6765 hom 2266.51 76 1 236700823 . T C 2266.51 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=29.82;VQSLOD=8.6587;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2300,175,0 1 236700857 236700857 C T exonic LGALS8 nonsynonymous SNV LGALS8:NM_201544:exon3:c.C106T:p.R36C,LGALS8:NM_006499:exon4:c.C106T:p.R36C,LGALS8:NM_201543:exon4:c.C106T:p.R36C,LGALS8:NM_201545:exon4:c.C106T:p.R36C 0.5 0.45 0.51 0.48 0.68 0.41 0.6105 0.4864 0.5167 0.4884 0.7351 0.6834 0.6067 0.4735 0.62 0.49 0.68 0.52 0.64 rs1041935 COSM146351 3(haematopoietic_and_lymphoid_tissue);1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.061 0.371 T 0.04 0.335 B 0.018 0.259 B 0.000 0.629 D 0.000 0.588 P 2.455 0.715 M 3.36 0.117 T -3.92 0.817 D 0.225 0.420 -1.013 0.259 T 0.000 0.000 T . . . 5.441 0.738 26.1 0.998 0.855 0.964 0.687 D c 0.220 0.319 1.000 0.747 0.732 0.924 0 5.45 0.796 5.543 0.667 0.892 0.403 1.000 0.715 0.815 0.341 19.471 0.949 Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1|ENSG00000116977.14 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6122 0.4868 0.5339 0.6015 0.4860 0.7379 0.6866 0.6193 0.4718 0.6289 0.4944 0.5346 0.5967 0.5037 0.7428 0.6966 0.6797 hom 2611.64 87 1 236700857 . C T 2611.64 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=30.02;VQSLOD=8.0228;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2645,205,0 1 236702209 236702209 C T exonic LGALS8 synonymous SNV LGALS8:NM_201544:exon4:c.C165T:p.S55S,LGALS8:NM_006499:exon5:c.C165T:p.S55S,LGALS8:NM_201543:exon5:c.C165T:p.S55S,LGALS8:NM_201545:exon5:c.C165T:p.S55S 0.42 0.22 0.46 0.47 0.6 0.4 0.5463 0.2863 0.4797 0.4810 0.6534 0.6197 0.5486 0.4527 0.48 0.28 0.58 . 0.33 rs1041936 COSM146831 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(autonomic_ganglia);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5532 0.2878 0.4990 0.5293 0.4820 0.6563 0.6258 0.5555 0.4538 0.5274 0.2925 0.4964 0.5099 0.4950 0.6665 0.6315 0.6196 hom 1981.07 70 1 236702209 . C T 1981.07 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.681;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5812;MQ=57.42;MQ0=0;MQRankSum=1.376;QD=28.30;ReadPosRankSum=0.815;VQSLOD=5.9559;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,69:70:99:2014,171,0 1 236702210 236702210 A G exonic LGALS8 nonsynonymous SNV LGALS8:NM_201544:exon4:c.A166G:p.M56V,LGALS8:NM_006499:exon5:c.A166G:p.M56V,LGALS8:NM_201543:exon5:c.A166G:p.M56V,LGALS8:NM_201545:exon5:c.A166G:p.M56V 0.63 0.67 0.63 0.66 0.7 0.48 0.6754 0.6807 0.6306 0.6336 0.7424 0.7159 0.6634 0.5362 0.7 0.68 0.71 0.27 0.41 rs1041937 COSM146352 1(haematopoietic_and_lymphoid_tissue);1(stomach);3(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.087 T 0.0 0.026 B 0.0 0.040 B 0.617 0.108 N 1.000 0.588 P -1.5 0.005 N 3.53 0.049 T 0.93 0.022 N 0.001 0.283 -0.993 0.319 T 0.000 0.000 T . . . 0.060 0.099 3.187 0.702 0.089 0.091 0.148 N c -1.179 -1.010 0.158 0.176 0.707 0.730 0 1.99 0.253 -0.115 0.106 -0.417 0.060 0.000 0.063 0.776 0.329 4.361 0.106 Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Testis 0.6784 0.6795 0.6480 0.6754 0.6329 0.7488 0.7187 0.6908 0.5385 0.7095 0.6823 0.6523 0.6623 0.6382 0.7574 0.7252 0.7184 hom 2128.16 68 1 236702210 . A G 2128.16 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5812;MQ=57.34;MQ0=0;QD=31.30;VQSLOD=5.7243;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2161,174,0 1 236702374 236702374 G A exonic LGALS8 synonymous SNV LGALS8:NM_201544:exon4:c.G330A:p.L110L,LGALS8:NM_006499:exon5:c.G330A:p.L110L,LGALS8:NM_201543:exon5:c.G330A:p.L110L,LGALS8:NM_201545:exon5:c.G330A:p.L110L 0.43 0.27 0.46 0.48 0.62 0.39 0.5585 0.3274 0.4851 0.4869 0.6867 0.6305 0.5520 0.4508 0.57 0.41 0.65 0.48 0.61 rs2472126 COSM3751017 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5626 0.3283 0.5013 0.5159 0.4837 0.6848 0.6362 0.5618 0.4507 0.5491 0.3307 0.4940 0.5066 0.5012 0.6932 0.6461 0.6303 hom 2355.11 83 1 236702374 . G A 2355.11 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=57.74;MQ0=0;QD=28.37;VQSLOD=7.1644;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2388,184,0 1 236706862 236706862 G C exonic LGALS8 nonsynonymous SNV LGALS8:NM_201544:exon8:c.G552C:p.R184S,LGALS8:NM_201543:exon9:c.G552C:p.R184S,LGALS8:NM_006499:exon10:c.G678C:p.R226S,LGALS8:NM_201545:exon10:c.G678C:p.R226S 0.68 0.7 0.76 0.69 0.74 0.51 0.7188 0.7169 0.7761 0.6589 0.7695 0.7474 0.7080 0.5758 0.74 0.72 0.75 0.77 0.68 rs2243525 COSM4416687 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.023 T 0.0 0.026 B 0.0 0.013 B 0.023 0.265 N 1 0.090 P 0 0.065 N 2.83 0.108 T 1.43 0.008 N 0.045 0.159 -1.044 0.160 T 0.000 0.000 T . . . -0.096 0.085 1.763 0.746 0.104 0.029 0.077 N c -1.223 -1.169 0.997 0.354 0.722 0.854 0 -2.97 0.052 -1.606 0.022 -0.331 0.074 0.000 0.063 0.869 0.363 2.282 0.038 Concanavalin A-like lectin/glucanase domain;Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.7236 0.7146 0.7832 0.6847 0.6556 0.7727 0.7500 0.7354 0.5802 0.7411 0.7197 0.7745 0.6779 0.6652 0.7802 0.7516 0.7464 hom 2833.95 92 1 236706862 . G C 2833.95 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8129;MQ=58.56;MQ0=0;QD=30.80;VQSLOD=7.0594;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,91:92:99:2867,226,0 1 236711323 236711323 T C exonic LGALS8 synonymous SNV LGALS8:NM_201544:exon10:c.T816C:p.Y272Y,LGALS8:NM_201543:exon11:c.T816C:p.Y272Y,LGALS8:NM_006499:exon12:c.T942C:p.Y314Y,LGALS8:NM_201545:exon12:c.T942C:p.Y314Y 0.5 0.44 0.51 0.48 0.68 0.41 0.6105 0.4863 0.5165 0.4911 0.7343 0.6839 0.6040 0.4710 0.62 0.49 0.68 0.63 0.65 rs15701 COSM3997354 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6124 0.4866 0.5337 0.6032 0.4878 0.7377 0.687 0.6191 0.4707 0.6289 0.4940 0.5346 0.61 0.5037 0.7431 0.6965 0.6765 hom 2788.66 82 1 236711323 . T C 2788.66 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=34.01;VQSLOD=9.6929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2822,220,0 1 236716959 236716959 C T exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon43:c.G6159A:p.S2053S 0.48 0.39 0.51 0.48 0.68 0.41 0.6055 0.4302 0.5151 0.4906 0.7349 0.6839 0.6024 0.4707 0.6 0.44 0.68 0.6 0.64 rs2275685 COSM146832 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6089 0.4329 0.5317 0.6030 0.4871 0.7379 0.6871 0.6175 0.4712 0.6133 0.4401 0.5359 0.6060 0.4994 0.7430 0.6961 0.6731 hom 4007.30 123 1 236716959 . C T 4007.30 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8519;MQ=59.27;MQ0=0;QD=32.58;VQSLOD=9.4596;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4007,310,0 1 236717926 236717926 T C exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon42:c.A6050G:p.E2017G 0.48 0.39 0.51 0.48 0.68 0.41 0.6056 0.4306 0.5149 0.4907 0.7340 0.6842 0.6035 0.4709 0.6 0.44 0.68 0.61 0.64 rs2275687 COSM3751018 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.013 0.538 D 0.0 0.670 B 0.0 0.602 B 0.000 0.843 D 0.000 0.588 P 1.555 0.395 L -0.29 0.677 T -4.8 0.806 D 0.196 0.358 -0.855 0.517 T 0.000 0.000 T . . . 5.291 0.716 25.7 0.998 0.868 0.986 0.840 D c 0.456 0.537 1.000 0.747 0.732 0.924 0 5.65 0.868 7.278 0.778 1.061 0.807 1.000 0.715 0.999 0.750 16.040 0.804 Armadillo-like helical|Armadillo-type fold;Armadillo-type fold ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1|ENSG00000116977.14 Adipose_Subcutaneous|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6097 0.4331 0.5321 0.6035 0.4874 0.7377 0.6873 0.6176 0.4723 0.6135 0.4402 0.5346 0.6060 0.4988 0.7431 0.6970 0.6724 hom 2869.28 94 1 236717926 . T C 2869.28 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=30.52;VQSLOD=8.9965;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2902,223,0 1 236718620 236718620 T C exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon41:c.A5899G:p.N1967D 0.48 0.39 0.51 0.48 0.68 0.41 0.6058 0.4302 0.5150 0.4910 0.7340 0.6843 0.6035 0.4718 0.6 0.44 0.68 0.61 0.56 rs1126627 COSM3751019 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.36 0.119 T 0.0 0.346 B 0.001 0.303 B 0.000 0.629 D 0.015 0.402 P 0.385 0.122 N 0.99 0.418 T -0.5 0.158 N 0.031 0.023 -1.018 0.243 T 0.000 0.000 T . . . 2.103 0.314 16.87 0.809 0.129 0.940 0.595 D c -0.100 0.085 0.832 0.247 0.707 0.730 0 5.3 0.746 2.386 0.438 1.061 0.807 1.000 0.715 0.996 0.625 15.408 0.745 BP28\x2c C-terminal domain ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1|ENSG00000116977.14 Adipose_Subcutaneous|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6091 0.4333 0.5326 0.6038 0.4878 0.7378 0.6871 0.6175 0.4719 0.6133 0.4395 0.5346 0.6060 0.4994 0.7430 0.6969 0.6748 hom 6648.54 203 1 236718620 . T C 6648.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.303;DP=203;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.0769;MQ=59.27;MQ0=0;MQRankSum=0.823;QD=32.75;ReadPosRankSum=-1.115;VQSLOD=7.0365;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,202:203:99:6616,495,0 1 236719135 236719135 T C exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon39:c.A5619G:p.E1873E 0.87 0.88 0.88 0.96 0.8 0.84 0.8414 0.8756 0.9182 0.9619 0.8442 0.8107 0.8117 0.8276 0.84 0.88 0.82 0.89 0.76 rs1885532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8441 0.8758 0.9132 0.7567 0.9579 0.8489 0.8132 0.8263 0.8293 0.8467 0.8739 0.8950 0.7649 0.9649 0.8482 0.8173 0.8360 hom 5703.65 167 1 236719135 . T C 5703.65 Mask AC=2;AF=1.00;AN=2;DP=167;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5757;MQ=58.86;MQ0=0;QD=34.15;VQSLOD=9.6581;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5703,448,0 1 236719193 236719193 A G exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon39:c.T5561C:p.V1854A 0.48 0.39 0.51 0.48 0.68 0.41 0.6055 0.4303 0.5148 0.4902 0.7340 0.6842 0.6035 0.4708 0.6 0.44 0.68 0.61 0.63 rs1885533 COSM3751020 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.906 0.024 T 0.0 0.090 B 0.0 0.093 B 0.062 0.221 N 1.000 0.090 P 1.79 0.469 L -0.09 0.641 T 0.36 0.037 N 0.025 0.010 -0.925 0.448 T 0.000 0.000 T . . . 1.234 0.214 11.92 0.805 0.128 0.261 0.227 N c -0.662 -0.547 0.010 0.120 0.707 0.730 0 2.76 0.314 1.276 0.325 0.237 0.263 0.051 0.212 0.842 0.351 6.413 0.208 Armadillo-like helical|Armadillo-type fold;Armadillo-type fold ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1|ENSG00000116977.14 Adipose_Subcutaneous|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6090 0.4330 0.5325 0.6037 0.4871 0.7378 0.6872 0.6176 0.4718 0.6130 0.4396 0.5335 0.6060 0.5006 0.7440 0.6960 0.6731 hom 5926.89 191 1 236719193 . A G 5926.89 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9420;MQ=58.84;MQ0=0;QD=31.03;VQSLOD=8.1336;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5926,484,0 1 236721610 236721610 G A exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon36:c.C5131T:p.L1711L 0.61 0.61 0.63 0.65 0.71 0.48 0.6731 0.6264 0.6335 0.6327 0.7464 0.7187 0.6652 0.5379 0.69 0.64 0.72 0.73 0.63 rs2275688 COSM3751021 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6753 0.6267 0.6469 0.6748 0.6266 0.7494 0.7200 0.6904 0.5395 0.6941 0.6286 0.6527 0.6623 0.6266 0.7579 0.7262 0.7157 hom 3287.89 96 1 236721610 . G A 3287.89 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=34.25;VQSLOD=9.9014;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3288,259,0 1 236721660 236721660 T C exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon36:c.A5081G:p.N1694S 0.68 0.7 0.76 0.68 0.74 0.51 0.7187 0.7180 0.7763 0.6533 0.7700 0.7478 0.7075 0.5752 0.74 0.72 0.75 0.77 0.67 rs2275689 COSM4418653 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.741 0.037 T 0.0 0.026 B 0.0 0.013 B 0.362 0.043 N 1 0.090 P 0.535 0.137 N -0.04 0.633 T -0.6 0.178 N 0.006 0.002 -1.000 0.301 T 0.000 0.000 T . . . -1.844 0.010 0.002 0.288 0.015 0.075 0.134 N c -1.751 -1.767 0.926 0.268 0.719 0.830 0 -7.78 0.011 -1.037 0.036 -2.333 0.003 0.000 0.063 0.004 0.083 10.491 0.437 Armadillo-like helical|Armadillo-type fold ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.7232 0.7159 0.7829 0.6844 0.6491 0.7730 0.7503 0.7347 0.5793 0.7408 0.7210 0.7745 0.6755 0.6503 0.7814 0.7516 0.7454 hom 4403.24 139 1 236721660 . T C 4403.24 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.83;MQ0=0;QD=31.68;VQSLOD=9.0048;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:139:99:4403,328,0 1 236721731 236721731 T C exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon36:c.A5010G:p.A1670A 1. 1. 1. 1. 1. 1. 0.9996 0.9958 0.9998 0.9999 1 0.9999 1 1 1. 1. 1. 1. 1. rs819431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9956 0.9997 1 0.9999 1 0.9999 1 1 0.9988 0.9961 0.9988 1 1 1 0.9999 1 hom 4243.86 140 1 236721731 . T C 4243.86 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6229;MQ=58.66;MQ0=0;QD=30.31;VQSLOD=8.2513;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4243,355,0 1 236744712 236744712 C A exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon20:c.G2565T:p.V855V 0.41 0.13 0.5 0.48 0.67 0.41 0.5896 0.2084 0.5025 0.4913 0.7240 0.6795 0.5955 0.4900 0.52 0.22 0.68 0.5 0.28 rs4518892 COSM146833 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6143 0.2184 0.5459 0.6385 0.5 0.7396 0.6907 0.6325 0.5049 0.5620 0.2244 0.5375 0.6156 0.5032 0.7482 0.7011 0.6738 hom 1786.75 59 1 236744712 . C A 1786.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.669;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1250;MQ=58.61;MQ0=0;MQRankSum=0.913;QD=30.28;ReadPosRankSum=1.228;VQSLOD=5.5869;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,57:59:99:1820,150,0 1 236746443 236746443 C T exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon18:c.G2295A:p.V765V 0.52 0.3 0.59 0.65 0.68 0.45 0.6237 0.3546 0.6043 0.6307 0.7268 0.6863 0.6225 0.5088 0.58 0.37 0.69 0.61 0.57 rs2794768 COSM3751024 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6322 0.3552 0.6164 0.6382 0.6266 0.7311 0.6886 0.6428 0.5101 0.5980 0.3551 0.6100 0.6358 0.6239 0.7374 0.6975 0.6748 hom 7489.20 243 1 236746443 . C T 7489.20 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6280;MQ=59.52;MQ0=0;QD=30.82;VQSLOD=8.1829;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,243:243:99:7488,581,0 1 236748505 236748505 T C exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon17:c.A2061G:p.L687L 0.52 0.3 0.59 0.65 0.68 0.45 0.6248 0.3569 0.6048 0.6319 0.7273 0.6868 0.6242 0.5103 0.58 0.37 0.69 0.61 0.64 rs1006456 COSM3751025 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6334 0.3550 0.6173 0.6393 0.6268 0.7311 0.6896 0.6408 0.5102 0.5979 0.3554 0.6077 0.6358 0.6244 0.7377 0.6970 0.6742 hom 2496.03 80 1 236748505 . T C 2496.03 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.55;MQ0=0;QD=31.20;VQSLOD=9.1736;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2529,193,0 1 236749649 236749649 T C exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon15:c.A1819G:p.M607V 0.37 0.035 0.46 0.47 0.62 0.39 0.5368 0.1124 0.4760 0.4889 0.7108 0.6262 0.5485 0.4373 0.46 0.13 0.62 0.34 0.59 rs2794763 COSM3997357 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.015 0.524 D 0.584 0.370 P 0.055 0.246 B 0.000 0.843 D 0.729 0.398 P 2.535 0.741 M 0.63 0.531 T -1.12 0.289 N 0.295 0.510 -0.940 0.426 T 0.000 0.000 T . . . 1.992 0.300 16.16 0.977 0.352 0.942 0.600 D c 0.123 0.175 0.739 0.232 0.732 0.924 0 5.42 0.786 4.245 0.583 1.061 0.807 1.000 0.715 0.593 0.287 15.755 0.777 Armadillo-like helical|Armadillo-type fold ENSG00000230325.1|ENSG00000119285.6|ENSG00000119285.6|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000119285.6|ENSG00000230325.1|ENSG00000273058.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Pancreas|Testis 0.5473 0.1084 0.4925 0.5269 0.4860 0.7120 0.6326 0.5536 0.4363 0.4902 0.1146 0.4880 0.5167 0.4963 0.7146 0.6470 0.6183 hom 2412.86 76 1 236749649 . T C 2412.86 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=31.75;VQSLOD=8.8003;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2446,187,0 1 236755837 236755837 C T exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon10:c.G1290A:p.R430R 0.56 0.33 0.6 0.72 0.7 0.53 0.6416 0.3838 0.6024 0.7156 0.7252 0.6958 0.6409 0.5634 0.6 0.39 0.71 0.62 0.3 rs2564739 COSM146834 1(breast);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6474 0.3600 0.6191 0.6684 0.7198 0.7331 0.6925 0.6587 0.5532 0.6215 0.3784 0.6298 0.66 0.7278 0.7471 0.7170 0.6824 hom 1475 54 1 236755837 . C T 1475 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.31;VQSLOD=13.0402;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1508,117,0 1 236758887 236758887 T C exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon8:c.A1043G:p.H348R 0.56 0.33 0.6 0.72 0.7 0.53 0.6549 0.3781 0.6174 0.7302 0.7358 0.7100 0.6501 0.5615 0.61 0.39 0.72 0.62 0.63 rs2794751 COSM3751026 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.037 0.244 N 1 0.090 P -1.04 0.011 N 1.13 0.650 T 0.5 0.030 N 0.041 0.029 -0.962 0.389 T 0.000 0.000 T . . . -0.300 0.068 0.664 0.210 0.008 0.008 0.034 N c -0.939 -0.768 0.135 0.172 0.707 0.730 0 2.97 0.333 0.219 0.173 0.040 0.155 0.057 0.215 0.956 0.434 5.594 0.165 Armadillo-type fold ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000116977.14|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000119285.6|ENSG00000230325.1|ENSG00000230325.1|ENSG00000230325.1|ENSG00000273058.1 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.6622 0.3770 0.6290 0.6726 0.7291 0.7392 0.7114 0.6712 0.5636 0.6235 0.3796 0.6313 0.6623 0.7308 0.7481 0.7190 0.6864 hom 2734.61 93 1 236758887 . T C 2734.61 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=58.62;MQ0=0;QD=29.40;VQSLOD=8.4449;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2768,214,0 1 236767330 236767330 A G exonic HEATR1 synonymous SNV HEATR1:NM_018072:exon2:c.T66C:p.S22S 0.58 0.33 0.72 0.75 0.69 0.54 0.6658 0.3842 0.7372 0.7505 0.7484 0.7011 0.6586 0.5738 0.6 0.4 0.71 0.59 0.66 rs10802551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6736 0.3760 0.7377 0.6115 0.7425 0.7492 0.7030 0.6722 0.5698 0.6257 0.3851 0.7291 0.5927 0.7562 0.7563 0.7114 0.6936 hom 2590.60 80 1 236767330 . A G 2590.60 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4131;MQ=58.95;MQ0=0;QD=32.38;VQSLOD=9.4284;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2624,202,0 1 236882303 236882303 T C exonic ACTN2 synonymous SNV ACTN2:NM_001103:exon3:c.T351C:p.I117I,ACTN2:NM_001278343:exon3:c.T351C:p.I117I 0.99 0.97 1. 1. 1. 1. 0.9979 0.9772 0.9990 1 1 0.9999 1 1 0.99 0.98 1. 0.99 1. rs1341864 . . Benign|Benign|Benign\x2cBenign not_specified|Dilated_cardiomyopathy_1AA|Primary_familial_hypertrophic_cardiomyopathy\x2cnot_specified RCV000150147.2|RCV000232558.2|RCV000232558.2\x2cRCV000036910.2 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT\x2cMedGen CN169374|C2677338:612158|C0949658:ORPHA155:83978005\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9784 0.9988 1 0.9999 1 1.0000 0.9989 1.0000 0.9933 0.9767 1 1 1 1 1 0.9969 hom 2294.09 83 1 236882303 . T C 2294.09 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.64;VQSLOD=13.0028;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2327,193,0 1 236883421 236883421 C T exonic ACTN2 synonymous SNV ACTN2:NM_001103:exon4:c.C378T:p.N126N,ACTN2:NM_001278343:exon4:c.C378T:p.N126N 0.92 0.81 0.86 0.98 1. 0.97 0.9624 0.8184 0.8618 0.9812 0.9868 0.9953 0.9758 0.9703 0.94 0.83 1. 0.94 0.97 rs1341863 . . Benign|Benign|Benign\x2cBenign not_specified|Dilated_cardiomyopathy_1AA|Primary_familial_hypertrophic_cardiomyopathy\x2cnot_specified RCV000154428.2|RCV000205804.3|RCV000205804.3\x2cRCV000036911.2 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT\x2cMedGen CN169374|C2677338:612158|C0949658:ORPHA155:83978005\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9618 0.8160 0.8706 0.9999 0.9799 0.9881 0.9951 0.9684 0.9707 0.9373 0.8084 0.8900 1 0.9790 0.9871 0.9949 0.9755 hom 4383.78 153 1 236883421 . C T 4383.78 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=28.65;VQSLOD=8.2898;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4383,334,0 1 237048500 237048500 A G exonic MTR nonsynonymous SNV MTR:NM_001291939:exon25:c.A2603G:p.D868G,MTR:NM_001291940:exon25:c.A1535G:p.D512G,MTR:NM_000254:exon26:c.A2756G:p.D919G 0.22 0.28 0.18 0.11 0.17 0.32 0.2091 0.2666 0.1864 0.1132 0.1892 0.1919 0.2108 0.3160 0.22 0.26 0.2 0.2 0.2 rs1805087 COSM3751027 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Uncertain significance|Benign not_specified|Gastrointestinal_stromal_tumor|Disorders_of_Intracellular_Cobalamin_Metabolism RCV000126868.2|RCV000144923.1|RCV000398009.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen CN169374|D046152:C0238198:606764:ORPHA44890|CN043592 . . . . . . 0.189 0.212 T 0.159 0.370 B 0.161 0.356 B 0.000 0.629 D 0.000 0.513 P 1.495 0.376 L -0.62 0.719 T -3.95 0.742 D 0.271 0.589 -1.079 0.075 T 0.000 0.000 T . . . 3.904 0.526 23.5 0.985 0.411 0.991 0.905 D c 0.264 0.443 1.000 0.747 0.707 0.730 0 5.99 0.973 8.536 0.904 1.088 0.866 1.000 0.715 1.000 0.888 16.494 0.840 Cobalamin (vitamin B12)-binding domain . . 0.2033 0.2651 0.1843 0.1699 0.1100 0.1922 0.1909 0.1956 0.3104 0.2113 0.2670 0.1878 0.1623 0.1068 0.1976 0.1944 0.2332 het 904.20 68 1 237048500 . A G 904.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.546;DP=68;Dels=0.00;FS=0.933;HRun=2;HaplotypeScore=1.9632;MQ=59.39;MQ0=0;MQRankSum=1.509;QD=13.30;ReadPosRankSum=-1.153;VQSLOD=6.0487;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:934,0,870 1 237058828 237058828 C T exonic MTR synonymous SNV MTR:NM_001291939:exon30:c.C3423T:p.L1141L,MTR:NM_001291940:exon30:c.C2355T:p.L785L,MTR:NM_000254:exon31:c.C3576T:p.L1192L 0.53 0.43 0.59 0.52 0.54 0.62 0.6193 0.5137 0.6691 0.6073 0.6914 0.6167 0.6318 0.6409 0.55 0.47 0.59 0.56 0.4 rs1131449 COSM425684 2(urinary_tract) Benign|Benign not_specified|Disorders_of_Intracellular_Cobalamin_Metabolism RCV000126863.2|RCV000320660.1 MedGen|MedGen CN169374|CN043592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5775 0.4605 0.6163 0.4692 0.5460 0.6311 0.5725 0.5538 0.6201 0.5576 0.4659 0.5706 0.4967 0.5378 0.6441 0.5885 0.6288 het 382.36 22 1 237058828 . C T 382.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.749;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=0.634;QD=17.38;ReadPosRankSum=-0.282;VQSLOD=7.1176;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,15:22:99:412,0,153 1 237617757 237617757 C T exonic RYR2 synonymous SNV RYR2:NM_001035:exon15:c.C1359T:p.S453S 0.54 0.28 0.54 0.74 0.6 0.6 0.5755 0.305 0.6026 0.7367 0.5985 0.5907 0.5813 0.5625 0.51 0.32 0.6 0.61 . rs3765097 . . Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036681.4|RCV000252560.1|RCV000306732.1|RCV000363710.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5819 0.3052 0.6039 0.5850 0.7291 0.5915 0.5953 0.5683 0.5589 0.5238 0.3184 0.5897 0.6033 0.7073 0.5894 0.5988 0.5867 hom 2989.99 104 1 237617757 . C T 2989.99 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.83;MQ0=0;QD=28.75;VQSLOD=8.5624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3023,244,0 1 237711797 237711797 A G exonic RYR2 synonymous SNV RYR2:NM_001035:exon26:c.A2973G:p.S991S 0.83 0.54 0.95 0.87 0.96 0.97 0.9262 0.5994 0.9575 0.8849 0.9710 0.9594 0.9499 0.9663 0.85 0.62 0.96 0.83 . rs2253273 COSM4143550;COSM4143549 1(thyroid) Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036722.4|RCV000244776.1|RCV000270161.1|RCV000364946.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9329 0.5968 0.9564 0.9549 0.8865 0.9730 0.9589 0.9437 0.9670 0.8540 0.6002 0.9414 0.9603 0.8838 0.9762 0.9567 0.9450 het 807.68 71 1 237711797 . A G 807.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.689;DP=71;Dels=0.00;FS=0.915;HRun=0;HaplotypeScore=2.9931;MQ=59.47;MQ0=0;MQRankSum=0.213;QD=11.38;ReadPosRankSum=1.516;VQSLOD=6.3055;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,33:71:99:838,0,997 1 237801770 237801770 T C exonic RYR2 synonymous SNV RYR2:NM_001035:exon45:c.T6906C:p.L2302L 0.95 0.84 0.99 1. 1. 1. 0.9884 0.8667 0.9948 1 0.9997 0.9997 0.9911 0.9998 0.96 0.87 1. 0.98 . rs707189 . . Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036783.4|RCV000249527.1|RCV000302537.1|RCV000359593.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9906 0.8676 0.9936 1 1 0.9998 0.9998 0.9949 0.9997 0.9641 0.8753 0.9881 1 1 0.9994 0.9999 0.9898 hom 8223.40 250 1 237801770 . T C 8223.40 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5515;MQ=58.94;MQ0=0;QD=32.89;VQSLOD=8.6383;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8188,638,0 1 237814783 237814783 C T exonic RYR2 synonymous SNV RYR2:NM_001035:exon51:c.C7806T:p.H2602H 0.55 0.49 0.5 0.8 0.43 0.56 0.5198 0.5164 0.5646 0.7888 0.5098 0.4739 0.4895 0.5243 0.45 0.48 0.44 0.51 . rs684923 COSM3751031;COSM3751032 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036793.4|RCV000253075.1|RCV000303156.1|RCV000392858.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4755 0.4743 0.5052 0.3020 0.7908 0.4899 0.4232 0.4459 0.4991 0.4881 0.5021 0.4940 0.2947 0.8125 0.4991 0.4477 0.4603 hom 304.22 13 1 237814783 . C T 304.22 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.40;VQSLOD=13.4534;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:24.08:337,24,0 1 237863718 237863718 T G exonic RYR2 synonymous SNV RYR2:NM_001035:exon65:c.T9318G:p.S3106S 0.97 0.89 0.99 1. 1. 1. 0.9917 0.9080 0.9953 1 1 0.9994 0.9954 0.9992 0.97 0.91 1. 0.95 . rs2797436 . . Likely benign\x2cBenign|Benign|Likely benign|Likely benign not_specified\x2cnot_specified|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiomyopathy\x2c_ARVC RCV000427003.1\x2cRCV000036803.4|RCV000244894.1|RCV000371137.1|RCV000404089.1 MedGen\x2cMedGen|MedGen|MedGen:Orphanet|MedGen CN169374\x2cCN169374|CN230736|C1631597:ORPHA3286|CN239181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9928 0.9020 0.9953 1 0.9997 1 0.9994 0.9937 0.9993 0.9715 0.9005 0.9964 1 1 1 0.9993 0.9969 hom 983.74 36 1 237863718 . T G 983.74 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;QD=27.33;VQSLOD=8.1389;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:78.24:1017,78,0 1 237881770 237881770 C T exonic RYR2 synonymous SNV RYR2:NM_001035:exon73:c.C10503T:p.T3501T 0.96 0.86 0.99 1. 1. 1. 0.9886 0.8706 0.9952 1 1 0.9995 0.9933 0.9992 0.96 0.88 1. 0.95 . rs2797441 . . Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036650.8|RCV000248433.1|RCV000287852.1|RCV000345114.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9906 0.8686 0.9949 0.9999 1 1 0.9995 0.9917 0.9993 0.9623 0.8678 0.9964 1 1 1 0.9995 0.9949 hom 2501.25 82 1 237881770 . C T 2501.25 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=30.50;VQSLOD=8.9656;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2534,193,0 1 237890437 237890437 C T exonic RYR2 synonymous SNV RYR2:NM_001035:exon76:c.C10776T:p.S3592S 0.96 0.85 0.99 1. 1. 1. 0.9885 0.8705 0.9949 1 1 0.9994 0.9933 0.9992 0.96 0.88 1. 0.97 . rs2685301 . . Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000036653.4|RCV000253202.1|RCV000300047.1|RCV000357204.1 MedGen|MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|CN239181|C1631597:ORPHA3286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9907 0.8689 0.9948 0.9999 1 1 0.9995 0.9920 0.9993 0.9625 0.8687 0.9964 1 1 1 0.9995 0.9949 hom 2208.76 77 1 237890437 . C T 2208.76 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.79;MQ0=0;QD=28.69;VQSLOD=8.4638;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2242,169,0 1 240256822 240256822 C A exonic FMN2 synonymous SNV FMN2:NM_001305424:exon1:c.C1413A:p.A471A,FMN2:NM_001348094:exon1:c.C1413A:p.A471A,FMN2:NM_020066:exon1:c.C1413A:p.A471A 0.33 0.09 0.34 0.3 0.52 0.48 0.4777 0.1741 0.3928 0.3367 0.4740 0.5348 0.4870 0.5460 0.4 0.16 0.52 0.24 0.43 rs10926124 COSM4143555 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4604 0.1513 0.3883 0.5586 0.3183 0.4556 0.5180 0.4793 0.5192 0.3831 0.1545 0.3852 0.5762 0.3208 0.4610 0.4942 0.4786 hom 966.60 28 1 240256822 . C A 966.60 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.17;MQ0=0;QD=34.52;VQSLOD=8.7480;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:81.22:1000,81,0 1 240370629 240370629 C G exonic FMN2 synonymous SNV FMN2:NM_020066:exon5:c.C2517G:p.T839T,FMN2:NM_001305424:exon6:c.C2529G:p.T843T 0.29 0.26 0.25 0.1 0.41 0.42 0.3481 0.2850 0.2015 0.1066 0.4733 0.3923 0.3425 0.3888 0.35 0.29 0.39 0.25 0.5 rs10926166 COSM4417418 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3422 0.2832 0.2041 0.2959 0.1056 0.4664 0.3957 0.3489 0.3842 0.3482 0.2937 0.2673 0.2351 0.1088 0.4570 0.3871 0.3511 het 1551.80 111 1 240370629 . C G 1551.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.803;DP=111;Dels=0.00;FS=2.493;HRun=0;HaplotypeScore=8.5187;MQ=58.98;MQ0=0;MQRankSum=0.209;QD=13.98;ReadPosRankSum=-1.316;VQSLOD=3.6895;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,58:111:99:1582,0,1496 1 240492734 240492734 G A exonic FMN2 nonsynonymous SNV FMN2:NM_001348094:exon8:c.G2324A:p.R775H,FMN2:NM_020066:exon10:c.G4403A:p.R1468H,FMN2:NM_001305424:exon11:c.G4415A:p.R1472H 0.32 0.34 0.36 0.32 0.29 0.31 0.3027 0.3156 0.3931 0.3111 0.2635 0.2841 0.3029 0.3176 0.29 0.31 0.27 0.38 0.2 rs3795677 COSM3746874 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.332 0.130 T 0.002 0.347 B 0.002 0.376 B 0.027 0.259 N 0.777 0.294 P 0.755 0.192 N 2.21 0.184 T -0.11 0.087 N 0.037 0.023 -0.994 0.316 T 0.000 0.000 T . . . 2.687 0.384 20.7 0.629 0.069 0.218 0.213 N c -1.021 -0.891 1.000 0.454 0.554 0.246 0 1.72 0.234 -0.086 0.111 -0.333 0.074 0.000 0.063 0.996 0.625 11.889 0.517 Formin\x2c FH2 domain . . 0.3041 0.3177 0.3798 0.2815 0.3031 0.2794 0.2820 0.2978 0.3215 0.2887 0.3093 0.3604 0.3278 0.2876 0.2855 0.2710 0.3167 het 2628.77 191 1 240492734 . G A 2628.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.722;DP=191;Dels=0.00;FS=5.064;HRun=0;HaplotypeScore=8.9371;MQ=58.55;MQ0=0;MQRankSum=0.915;QD=13.76;ReadPosRankSum=-0.808;VQSLOD=4.2666;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,98:191:99:2659,0,2427 1 241755348 241755348 C T exonic KMO nonsynonymous SNV KMO:NM_003679:exon15:c.C1354T:p.R452C 0.12 0.0091 0.13 0.053 0.22 0.21 0.1768 0.0383 0.1008 0.0541 0.2305 0.2166 0.1949 0.1983 0.16 0.044 0.23 0.11 0.27 rs1053230 COSM1179740 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . 0.177 0.222 T 0.0 0.026 B 0.0 0.013 B 0.116 0.027 N 1 0.090 P 0 0.065 N 0.92 0.445 T -0.63 0.185 N 0.023 0.429 -1.055 0.130 T 0.000 0.000 T . . . 1.583 0.252 13.76 0.778 0.116 0.005 0.022 N c -1.000 -1.053 1.000 0.454 0.644 0.439 0 0.337 0.151 0.518 0.224 0.125 0.212 0.000 0.063 0.003 0.074 7.322 0.255 . . . 0.1767 0.0344 0.1039 0.1830 0.0520 0.2298 0.2195 0.1945 0.1981 0.1635 0.0416 0.1241 0.2086 0.0592 0.2423 0.2262 0.2008 het 1882.69 177 1 241755348 . C T 1882.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.595;DP=177;DS;Dels=0.00;FS=3.850;HRun=0;HaplotypeScore=3.8473;MQ=59.32;MQ0=0;MQRankSum=-0.109;QD=10.64;ReadPosRankSum=0.172;VQSLOD=5.7025;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,71:177:99:1913,0,2601 1 241907817 241907817 T C exonic WDR64 synonymous SNV WDR64:NM_144625:exon12:c.T1563C:p.N521N 0.59 0.82 0.57 0.51 0.47 0.5 0.5354 0.7876 0.5733 0.5236 0.4042 0.5160 0.4890 0.4896 0.61 0.77 0.52 0.69 0.46 rs10802990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5282 0.7910 0.5668 0.5379 0.5197 0.4075 0.5167 0.5119 0.4893 0.5854 0.7887 0.5299 0.5367 0.5205 0.4213 0.5224 0.4949 het 751.68 87 1 241907817 . T C 751.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.801;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=0.118;QD=8.64;ReadPosRankSum=0.625;VQSLOD=6.3113;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,33:87:99:782,0,1593 1 241929542 241929542 G A exonic WDR64 nonsynonymous SNV WDR64:NM_144625:exon15:c.G1940A:p.R647Q 0.11 0.22 0.12 0.003 0.15 0.018 0.1235 0.2240 0.0683 0.0012 0.0919 0.1594 0.0982 0.0317 0.18 0.22 0.16 0.15 0.17 rs12095445 COSM3751038;COSM3751039 1(large_intestine) . . . . . . . . . . . 0.145 0.251 T 0.088 0.235 B 0.023 0.188 B 0.897 0.086 N 1.000 0.208 P 0.69 0.170 N 1.06 0.398 T -0.11 0.158 N 0.043 0.193 -0.993 0.318 T 0.000 0.000 T . . . 2.289 0.336 18.09 0.934 0.225 0.013 0.044 N c -1.130 -1.062 0.000 0.029 0.487 0.133 0 0.735 0.174 2.659 0.462 -0.322 0.076 1.000 0.715 0.112 0.193 3.756 0.081 WD40-repeat-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000203668.1|ENSG00000162843.13 Artery_Tibial|Testis 0.1193 0.2230 0.0738 0.1935 0.0009 0.0907 0.1604 0.1266 0.0302 0.1616 0.2198 0.1050 0.1821 0.0012 0.0874 0.1676 0.1255 het 1652.58 125 1 241929542 . G A 1652.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.408;DP=125;Dels=0.00;FS=1.488;HRun=1;HaplotypeScore=3.9549;MQ=58.95;MQ0=0;MQRankSum=-0.408;QD=13.22;ReadPosRankSum=-0.032;VQSLOD=6.0704;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,67:125:99:1683,0,1324 1 241951329 241951329 C T exonic WDR64 nonsynonymous SNV WDR64:NM_144625:exon23:c.C2854T:p.R952W 0.11 0.22 0.13 0.005 0.16 0.021 0.1326 0.2252 0.0712 0.0017 0.0966 0.1665 0.1145 0.0431 0.18 0.21 0.17 0.14 0.16 rs12074374 COSM3751041;COSM3751040 1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 0.999 0.899 D 0.874 0.645 P 0.047 0.234 N 0.999 0.314 P 2.215 0.627 M 1.17 0.418 T -3.36 0.670 D 0.141 0.420 -1.091 0.053 T 0.000 0.001 T . . . 5.478 0.744 26.2 0.998 0.905 0.140 0.180 N c 0.021 -0.067 0.000 0.035 0.487 0.133 0 2.8 0.317 0.344 0.196 -0.348 0.070 0.096 0.225 0.955 0.433 9.375 0.373 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000203668.1 Artery_Tibial 0.1254 0.2197 0.0756 0.2089 0.0015 0.0957 0.1660 0.1304 0.0345 0.1651 0.2179 0.1050 0.1954 0.0031 0.0936 0.1736 0.1314 het 407.75 45 1 241951329 . C T 407.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.577;DP=45;Dels=0.00;FS=5.039;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=0.202;QD=9.06;ReadPosRankSum=0.391;VQSLOD=5.6961;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,16:45:99:438,0,808 1 242030151 242030151 A G exonic EXO1 nonsynonymous SNV EXO1:NM_003686:exon9:c.A1061G:p.H354R,EXO1:NM_006027:exon9:c.A1061G:p.H354R,EXO1:NM_001319224:exon10:c.A1061G:p.H354R,EXO1:NM_130398:exon11:c.A1061G:p.H354R 0.64 0.61 0.69 0.8 0.57 0.53 0.5930 0.6192 0.7242 0.7996 0.6056 0.5521 0.5870 0.5368 0.57 0.62 0.54 0.7 0.52 rs735943 COSM5001996;COSM5001995 1(breast);1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.997 0.019 T 0.0 0.026 B 0.001 0.040 B 0.241 0.157 N 1.000 0.202 P 1.025 0.256 L 1.41 0.346 T -0.92 0.247 N 0.026 0.024 -0.990 0.327 T 0.000 0.000 T . . . -0.879 0.037 0.029 0.128 0.002 0.205 0.209 N c -1.046 -0.938 0.267 0.188 0.707 0.730 0 -0.821 0.102 0.399 0.205 -0.152 0.108 0.990 0.367 0.933 0.406 11.725 0.508 . ENSG00000174371.12 Testis 0.5972 0.6227 0.7206 0.4424 0.7964 0.6011 0.5562 0.5823 0.5363 0.6067 0.6181 0.6770 0.5232 0.7866 0.6154 0.5774 0.5922 hom 4406.07 157 1 242030151 . A G 4406.07 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6764;MQ=59.13;MQ0=0;QD=28.06;VQSLOD=7.4928;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4405,358,0 1 242035382 242035382 C T exonic EXO1 nonsynonymous SNV EXO1:NM_003686:exon10:c.C1316T:p.T439M,EXO1:NM_006027:exon10:c.C1316T:p.T439M,EXO1:NM_001319224:exon11:c.C1313T:p.T438M,EXO1:NM_130398:exon12:c.C1316T:p.T439M 0.086 0.0076 0.21 0.089 0.086 0.1 0.1032 0.0172 0.3222 0.0800 0.1111 0.0824 0.0931 0.0954 0.057 0.019 0.077 0.087 0.09 rs4149963 COSM146842;COSM4382337 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . 0.055 0.384 T 0.014 0.230 B 0.005 0.145 B 0.095 0.201 N 1.000 0.186 P 2.27 0.647 M 1.29 0.358 T -2.07 0.473 N 0.057 0.052 -1.090 0.055 T 0.000 0.000 T . . . 2.609 0.375 20.2 0.951 0.255 0.140 0.180 N c -0.599 -0.553 0.227 0.184 0.732 0.924 0 2.99 0.335 0.611 0.238 -0.326 0.075 0.001 0.137 0.777 0.329 6.078 0.190 . . . 0.1120 0.0180 0.3113 0.0477 0.0763 0.1073 0.0823 0.1027 0.0944 0.0749 0.0183 0.2380 0.0767 0.0655 0.1101 0.0903 0.0969 hom 1184.40 40 1 242035382 . C T 1184.40 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.465;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.28;MQ0=0;MQRankSum=-1.086;QD=29.61;ReadPosRankSum=1.024;VQSLOD=7.7971;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,38:40:60.58:1217,61,0 1 242042301 242042301 G A exonic EXO1 nonsynonymous SNV EXO1:NM_003686:exon11:c.G1765A:p.E589K,EXO1:NM_006027:exon11:c.G1765A:p.E589K,EXO1:NM_001319224:exon12:c.G1762A:p.E588K,EXO1:NM_130398:exon13:c.G1765A:p.E589K 0.35 0.48 0.39 0.23 0.37 0.26 0.3610 0.4790 0.3657 0.1900 0.4080 0.3765 0.3554 0.2917 0.41 0.47 0.37 0.35 0.3 rs1047840 COSM146843;COSM4382841 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(skin);2(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.093 B 0.097 0.200 N 1 0.090 P -0.6 0.022 N 1.24 0.367 T -0.18 0.098 N 0.027 0.026 -0.938 0.430 T 0.000 0.000 T . . . -0.283 0.070 0.727 0.411 0.029 0.010 0.037 N c -1.608 -1.625 0.931 0.270 0.707 0.730 0 -3.34 0.046 -0.023 0.123 -0.957 0.024 0.006 0.172 0.000 0.016 10.091 0.414 . . . 0.3619 0.4782 0.3681 0.3974 0.1837 0.4154 0.3774 0.3594 0.2912 0.4007 0.4647 0.3720 0.3808 0.1951 0.3993 0.3894 0.3809 hom 4795.14 154 1 242042301 . G A 4795.14 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.09;MQ0=0;QD=31.14;VQSLOD=9.8135;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:4795,376,0 1 242045275 242045275 C T exonic EXO1 nonsynonymous SNV EXO1:NM_003686:exon12:c.C2167T:p.R723C,EXO1:NM_006027:exon12:c.C2167T:p.R723C,EXO1:NM_001319224:exon13:c.C2164T:p.R722C,EXO1:NM_130398:exon14:c.C2167T:p.R723C 0.92 0.87 0.98 0.87 0.97 0.92 0.9564 0.8819 0.9773 0.8708 0.9909 0.9749 0.9659 0.9442 0.95 0.89 0.98 0.87 0.96 rs1635498 . . . . . . . . . . . . . 0.188 0.213 T 0.85 0.449 P 0.34 0.406 B 0.131 0.186 N 1.000 0.200 P 0.345 0.112 N 1.35 0.360 T -1.22 0.309 N 0.043 0.069 -0.976 0.358 T 0.000 0.000 T . . . 3.117 0.434 22.6 0.956 0.268 0.054 0.112 N c -0.515 -0.592 0.792 0.240 0.732 0.924 0 1.84 0.242 0.577 0.233 0.935 0.490 0.005 0.169 0.565 0.282 5.135 0.142 . . . 0.9584 0.8828 0.9742 0.9361 0.8718 0.9916 0.9758 0.9671 0.9452 0.9462 0.8801 0.9712 0.9669 0.8691 0.9954 0.9780 0.9744 hom 2321.66 92 1 242045275 . C T 2321.66 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4105;MQ=59.21;MQ0=0;QD=25.24;VQSLOD=6.5714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2355,172,0 1 243579112 243579112 G A exonic SDCCAG8 synonymous SNV SDCCAG8:NM_001350249:exon14:c.G1431A:p.E477E,SDCCAG8:NM_006642:exon14:c.G1725A:p.E575E,SDCCAG8:NM_001350247:exon15:c.G822A:p.E274E,SDCCAG8:NM_001350248:exon15:c.G1821A:p.E607E,SDCCAG8:NM_001350246:exon16:c.G822A:p.E274E,SDCCAG8:NM_001350251:exon17:c.G822A:p.E274E 0.44 0.094 0.54 0.78 0.5 0.42 0.4889 0.1517 0.5863 0.7657 0.5210 0.5040 0.4823 0.4147 0.39 0.16 0.51 0.47 0.57 rs10927011 . . Benign|Benign|Benign not_specified|Renal_dysplasia_and_retinal_aplasia|Bardet-Biedl_syndrome RCV000253713.1|RCV000291874.1|RCV000381614.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN117960:ORPHA3156:236531005|C0752166:209900:ORPHA110:5619004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4992 0.1420 0.5850 0.5132 0.7695 0.5160 0.5008 0.5007 0.4102 0.4159 0.1536 0.5755 0.5333 0.7942 0.5186 0.4892 0.4735 het 1325.13 80 1 243579112 . G A 1325.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=80;Dels=0.00;FS=3.495;HRun=1;HaplotypeScore=3.4863;MQ=59.40;MQ0=0;MQRankSum=0.404;QD=16.56;ReadPosRankSum=-0.005;VQSLOD=5.8488;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,46:80:99:1355,0,971 1 245245402 245245402 C T exonic EFCAB2 synonymous SNV EFCAB2:NM_001143943:exon4:c.C201T:p.P67P,EFCAB2:NM_001290327:exon5:c.C231T:p.P77P,EFCAB2:NM_032328:exon5:c.C201T:p.P67P 0.29 0.25 0.29 0.19 0.45 0.29 0.3438 0.2453 0.2067 0.1706 0.3721 0.4061 0.3667 0.3286 0.35 0.25 0.39 0.28 0.39 rs10927387 COSM146846;COSM3751069 1(bone);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3422 0.2385 0.2270 0.3738 0.1746 0.3733 0.4110 0.3652 0.3276 0.3347 0.2414 0.2757 0.4295 0.1642 0.3730 0.3988 0.3497 het 1469.04 149 1 245245402 . C T 1469.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.158;DP=149;Dels=0.00;FS=2.138;HRun=0;HaplotypeScore=4.5678;MQ=59.57;MQ0=0;MQRankSum=1.287;QD=9.86;ReadPosRankSum=-0.732;VQSLOD=5.3465;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:89,60:149:99:1499,0,2482 1 245704130 245704130 G C exonic KIF26B nonsynonymous SNV KIF26B:NM_018012:exon5:c.G1228C:p.A410P 0.13 0.0091 0.17 0.23 0.13 0.15 0.1246 0.0186 0.2522 0.2325 0.1025 0.1027 0.1247 0.1394 0.081 0.024 0.11 0.087 . rs61754898 COSM5827804;COSM146847;COSM3751070 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.505 0.124 T 0.01 0.144 B 0.004 0.112 B . . . 1 0.090 P -0.09 0.047 N -1.12 0.776 T 0.79 0.019 N 0.039 0.126 -1.110 0.031 T 0.000 0.000 T . . . -0.178 0.078 1.219 0.707 0.091 0.596 0.307 D c -0.897 -0.800 0.001 0.077 0.554 0.246 0 3.53 0.394 3.595 0.535 -0.232 0.094 0.806 0.296 0.000 0.016 11.029 0.468 . . . 0.1324 0.0177 0.2500 0.0976 0.2294 0.1042 0.1042 0.1192 0.1428 0.0922 0.0208 0.2518 0.07 0.2321 0.1068 0.1049 0.1224 het 1516.89 139 1 245704130 . G C 1516.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.705;DP=139;Dels=0.00;FS=0.657;HRun=2;HaplotypeScore=1.8932;MQ=59.08;MQ0=0;MQRankSum=-0.897;QD=10.91;ReadPosRankSum=-1.438;VQSLOD=5.2634;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,63:139:99:1547,0,1762 1 245849000 245849000 C T exonic KIF26B synonymous SNV KIF26B:NM_018012:exon12:c.C2715T:p.P905P 0.082 0.072 0.097 0.021 0.19 0.038 0.1517 0.1083 0.0601 0.0216 0.2568 0.2079 0.1444 0.0464 0.17 0.098 0.2 0.065 . rs61744485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1482 0.1067 0.0694 0.0929 0.0217 0.2512 0.2101 0.1512 0.0473 0.1852 0.1078 0.0909 0.0960 0.0117 0.2514 0.2389 0.2108 het 544.77 45 1 245849000 . C T 544.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.398;DP=45;Dels=0.00;FS=1.174;HRun=0;HaplotypeScore=0.9916;MQ=58.55;MQ0=0;MQRankSum=0.216;QD=12.11;ReadPosRankSum=-0.535;VQSLOD=5.4821;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:575,0,648 1 245850095 245850095 C T exonic KIF26B synonymous SNV KIF26B:NM_018012:exon12:c.C3810T:p.D1270D 0.15 0.23 0.16 0.018 0.24 0.054 0.1983 0.2319 0.0971 0.0157 0.2821 0.2581 0.2180 0.0711 0.24 0.22 0.26 0.21 . rs871840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1942 0.2244 0.1051 0.2404 0.0170 0.2791 0.2568 0.2094 0.0716 0.2455 0.2270 0.1316 0.2483 0.0099 0.2796 0.2801 0.2444 hom 1533.63 50 1 245850095 . C T 1533.63 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.67;VQSLOD=13.4790;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1567,123,0 1 245861571 245861571 C T exonic KIF26B synonymous SNV KIF26B:NM_018012:exon13:c.C5988T:p.D1996D 0.4 0.33 0.45 0.38 0.55 0.33 0.4942 0.3644 0.3688 0.3931 0.4968 0.5756 0.5101 0.3804 0.53 0.4 0.58 0.47 . rs3205034 COSM3997382;COSM3997381 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4921 0.3554 0.3758 0.6102 0.3911 0.4977 0.5772 0.5428 0.3838 0.4759 0.3595 0.4149 0.6589 0.3994 0.4785 0.5501 0.4878 het 326.19 27 1 245861571 . C T 326.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9969;MQ=60.00;MQ0=0;MQRankSum=-0.461;QD=12.08;ReadPosRankSum=0.558;VQSLOD=5.9780;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,14:27:99:356,0,325 1 246021941 246021941 T C exonic SMYD3 synonymous SNV SMYD3:NM_001167740:exon10:c.A933G:p.A311A,SMYD3:NM_022743:exon10:c.A756G:p.A252A 0.39 0.22 0.52 0.19 0.72 0.39 0.5672 0.2813 0.4006 0.1714 0.6424 0.7194 0.5749 0.4253 0.57 0.29 0.72 0.37 0.71 rs2362587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5686 0.2824 0.4260 0.6947 0.1706 0.6495 0.7210 0.6248 0.4278 0.5488 0.2934 0.5060 0.6623 0.1786 0.6372 0.7113 0.6327 het 1767.67 128 1 246021941 . T C 1767.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.331;DP=128;Dels=0.00;FS=0.679;HRun=0;HaplotypeScore=4.9163;MQ=59.37;MQ0=0;MQRankSum=0.729;QD=13.81;ReadPosRankSum=-0.676;VQSLOD=5.6907;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,71:128:99:1798,0,1407 1 246707858 246707858 A G exonic TFB2M synonymous SNV TFB2M:NM_022366:exon7:c.T984C:p.F328F 0.15 0.17 0.22 0.003 0.28 0.1 0.2068 0.1920 0.1199 0.0006 0.2430 0.2688 0.2450 0.1182 0.24 0.19 0.27 0.12 0.25 rs3129568 COSM5419981 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2077 0.1894 0.1360 0.3185 0.0008 0.2388 0.2684 0.2434 0.1197 0.2223 0.1934 0.1599 0.2947 0.0012 0.2395 0.2599 0.2403 hom 3827.61 124 1 246707858 . A G 3827.61 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5661;MQ=60.00;MQ0=0;QD=30.87;VQSLOD=8.9516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3827,304,0 1 246720798 246720798 G A exonic TFB2M synonymous SNV TFB2M:NM_022366:exon3:c.C441T:p.I147I 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 1. 1. 1. 1. 0.95 rs3124071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9998 1 1 1 1 1 1 1 0.9999 0.9998 1 1 1 1 1 1 hom 2261.16 73 1 246720798 . G A 2261.16 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=30.97;VQSLOD=8.3821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2294,184,0 1 246755124 246755124 T C exonic CNST nonsynonymous SNV CNST:NM_001139459:exon2:c.T260C:p.L87S,CNST:NM_152609:exon2:c.T260C:p.L87S 0.88 0.8 0.92 0.89 0.91 0.94 0.9088 0.8289 0.9341 0.9031 0.9262 0.9080 0.8996 0.9411 0.88 0.85 0.9 0.84 0.89 rs6702823 COSM4143624 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.207 0.034 N 1 0.090 P -0.465 0.027 N 2.08 0.202 T 1.95 0.004 N 0.018 0.021 -0.990 0.327 T 0.000 0.000 T . . . -2.620 0.003 0.001 0.434 0.032 0.015 0.049 N c -1.756 -1.706 1.000 0.747 0.731 0.878 0 -2.86 0.053 -0.531 0.062 -1.586 0.009 0.000 0.063 0.000 0.016 9.704 0.392 . . . 0.9102 0.8293 0.9325 0.9067 0.8983 0.9270 0.9048 0.9110 0.9414 0.8882 0.8366 0.9141 0.8933 0.8974 0.9256 0.9054 0.9122 hom 1523.66 53 1 246755124 . T C 1523.66 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=28.75;VQSLOD=8.1310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1557,126,0 1 247006051 247006051 G C exonic AHCTF1 nonsynonymous SNV AHCTF1:NM_001323342:exon35:c.C6553G:p.L2185V,AHCTF1:NM_001323343:exon35:c.C6553G:p.L2185V,AHCTF1:NM_015446:exon35:c.C6580G:p.L2194V 0.22 0.22 0.34 0.17 0.22 0.17 0.2445 0.2079 0.4605 0.1582 0.3506 0.2262 0.2461 0.1921 0.21 0.21 0.21 0.21 0.2 rs12410563 COSM3997386 1(bone);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.456 0.124 N 1 0.090 P -2.38 0.001 N 1.94 0.227 T 0.53 0.028 N 0.021 0.024 -0.928 0.445 T 0.000 0.000 T . . . -2.121 0.007 0.001 0.435 0.032 0.001 0.006 N c -1.763 -1.656 0.000 0.044 0.732 0.924 0 -0.129 0.128 -0.285 0.084 -1.540 0.010 0.002 0.151 0.000 0.016 5.997 0.186 . . . 0.2508 0.2130 0.4335 0.1356 0.1578 0.3431 0.2239 0.2548 0.1888 0.2430 0.2136 0.3628 0.1523 0.1570 0.3539 0.2369 0.2719 hom 7808.96 250 1 247006051 . G C 7808.96 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4926;MQ=57.91;MQ0=0;QD=31.24;VQSLOD=6.9891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7770,593,0 1 247048834 247048834 T C exonic AHCTF1 nonsynonymous SNV AHCTF1:NM_001323342:exon21:c.A2621G:p.N874S,AHCTF1:NM_001323343:exon21:c.A2621G:p.N874S,AHCTF1:NM_015446:exon21:c.A2648G:p.N883S 0.68 0.98 0.63 0.62 0.52 0.55 0.5662 0.9117 0.6619 0.5986 0.5915 0.4934 0.5621 0.5476 0.63 0.89 0.5 0.73 0.48 rs2642990 COSM3751079 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.262 0.153 N 1 0.090 P -1.04 0.011 N 1.05 0.400 T 0.23 0.046 N 0.001 0.000 -0.992 0.321 T 0.000 0.000 T . . . -1.626 0.014 0.002 0.627 0.069 0.019 0.058 N c -1.447 -1.343 0.987 0.310 0.372 0.050 0 -0.677 0.107 0.409 0.207 -0.662 0.040 0.010 0.182 0.728 0.316 7.224 0.250 ELYS-like domain ENSG00000153207.10|ENSG00000153207.10|ENSG00000153207.10|ENSG00000153207.10 Adipose_Subcutaneous|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung 0.5633 0.9154 0.6483 0.4586 0.5939 0.5868 0.4942 0.5655 0.5433 0.6360 0.9022 0.6067 0.5033 0.5998 0.5988 0.5027 0.5654 hom 2063.34 67 1 247048834 . T C 2063.34 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.01;MQ0=0;QD=30.80;VQSLOD=4.8890;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2096,163,0 1 247150740 247150740 T C exonic ZNF695 synonymous SNV ZNF695:NM_020394:exon4:c.A1077G:p.K359K 0.59 0.16 0.72 0.97 0.64 0.63 0.6538 0.2257 0.8288 0.9821 0.6931 0.6494 0.6745 0.6122 0.51 0.25 0.64 0.59 . rs3749427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6647 0.2194 0.8085 0.6812 0.9820 0.6940 0.6408 0.6596 0.6116 0.5525 0.2333 0.7864 0.6225 0.9790 0.6920 0.6392 0.6418 het 924.54 69 1 247150740 . T C 924.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.430;DP=69;Dels=0.00;FS=14.071;HRun=1;HaplotypeScore=3.7738;MQ=59.67;MQ0=0;MQRankSum=0.074;QD=13.40;ReadPosRankSum=-1.632;VQSLOD=3.4913;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,35:69:99:955,0,979 1 247151557 247151557 A G exonic ZNF695 nonsynonymous SNV ZNF695:NM_001204221:exon4:c.T260C:p.V87A,ZNF695:NM_020394:exon4:c.T260C:p.V87A 0.63 0.29 0.74 0.97 0.64 0.63 0.6678 0.3304 0.8365 0.9819 0.6926 0.6495 0.6833 0.6302 0.55 0.33 0.64 0.62 . rs2642992 COSM1127064;COSM3927626 2(prostate) . . . . . . . . . . . 1.0 0.032 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.695 0.181 N 5.77 0.064 T 1.06 0.154 N 0.003 0.000 -1.052 0.137 T 0.000 0.000 T . . . -0.782 0.041 0.047 0.315 0.018 0.000 0.000 N c -1.711 -1.707 0.000 0.071 0.707 0.730 0 0.459 0.158 -0.331 0.079 -0.755 0.034 0.000 0.063 0.412 0.256 3.894 0.086 Krueppel-associated box ENSG00000135747.7|ENSG00000135747.7|ENSG00000135747.7|ENSG00000135747.7 Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Thyroid 0.6700 0.3260 0.8120 0.6941 0.9817 0.6986 0.6433 0.6749 0.6226 0.5802 0.3307 0.7959 0.6258 0.9790 0.6923 0.6387 0.6439 het 408.20 36 1 247151557 . A G 408.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.075;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.610;QD=11.34;ReadPosRankSum=-1.251;VQSLOD=6.0988;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:36:99:438,0,622 1 247162658 247162658 C T exonic ZNF695 nonsynonymous SNV ZNF695:NM_001204221:exon3:c.G251A:p.R84K,ZNF695:NM_020394:exon3:c.G251A:p.R84K 0.83 0.83 0.93 0.97 0.83 0.62 0.8270 0.8233 0.9324 0.9822 0.8692 0.8338 0.8392 0.6294 0.83 0.83 0.83 0.9 . rs2642973 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.063 B . . . 1 0.090 P 1.06 0.271 L 5.79 0.067 T 1.45 0.008 N 0.004 0.026 -0.924 0.450 T 0.000 0.000 T . . . -0.876 0.037 0.029 0.396 0.027 0.000 0.002 N c -1.725 -1.789 0.000 0.035 0.707 0.730 0 0.149 0.141 -1.671 0.020 -0.734 0.035 0.037 0.206 0.028 0.145 . . Krueppel-associated box ENSG00000188295.10|ENSG00000188295.10 Cells_Transformed_fibroblasts|Nerve_Tibial 0.8348 0.8207 0.9285 0.8996 0.9821 0.8703 0.8267 0.8531 0.6363 0.8389 0.8165 0.9127 0.8907 0.9796 0.8665 0.8259 0.8289 hom 2734.81 90 1 247162658 . C T 2734.81 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=30.39;VQSLOD=9.0841;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2768,214,0 1 247267269 247267269 C T exonic ZNF669 nonsynonymous SNV ZNF669:NM_024804:exon1:c.G233A:p.C78Y 0.011 0.0023 0.016 . 0.039 0.0031 0.0338 0.0065 0.0297 0 0.1048 0.0462 0.0320 0.0054 0.016 0.0034 0.022 0.011 0.0082 rs61730460 . . . . . . . . . . . . . 0.007 0.599 D 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 D 0 0.065 N 3.4 0.057 T -0.78 0.216 N 0.214 0.263 -0.943 0.422 T 0.002 0.005 T . . . 0.525 0.144 7.621 0.560 0.053 0.022 0.064 N c -1.770 -1.863 1.000 0.747 0.025 0.001 3 -0.684 0.107 -1.050 0.036 -1.787 0.007 0.001 0.137 0.001 0.043 3.325 0.066 . . . 0.0235 0.0034 0.0153 0.0331 0 0.0585 0.0299 0.0343 0.0042 0.0250 0.0036 0.0155 0.0563 0.0006 0.0562 0.0322 0.0347 het 168.73 13 1 247267269 . C T 168.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.468;DP=13;Dels=0.00;FS=2.616;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.289;QD=12.98;ReadPosRankSum=-0.289;VQSLOD=6.3169;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,8:13:91.35:199,0,91 1 247267274 247267274 C A exonic ZNF669 nonsynonymous SNV ZNF669:NM_024804:exon1:c.G228T:p.E76D 0.25 0.12 0.29 0.12 0.33 0.45 0.3883 0.2008 0.4977 0.1524 0.4502 0.3812 0.4185 0.5099 0.25 0.15 0.31 0.2 0.2 rs4925692 COSM3746892 1(liver);1(biliary_tract) . . . . . . . . . . . 0.342 0.126 T 0.88 0.464 P 0.636 0.501 P . . . 0.999 0.588 P 0.55 0.145 N 3.37 0.059 T -0.05 0.080 N 0.123 0.138 -0.934 0.435 T 0.000 0.000 T . . . 2.631 0.377 20.4 0.994 0.634 0.042 0.096 N c -0.784 -1.009 1.000 0.747 0.025 0.001 3 0.342 0.152 -1.987 0.016 -0.373 0.066 0.000 0.063 0.002 0.062 2.763 0.049 . ENSG00000188295.10|ENSG00000188295.10|ENSG00000221953.2|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000221953.2|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10|ENSG00000188295.10 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.3215 0.1439 0.3618 0.2893 0.1077 0.3288 0.3260 0.3161 0.4633 0.2651 0.1543 0.3194 0.2417 0.1062 0.3219 0.3273 0.3200 het 52.66 13 1 247267274 . C A 52.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.545;DP=13;Dels=0.00;FS=2.616;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.437;QD=4.05;ReadPosRankSum=-0.212;VQSLOD=3.6815;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,5:13:82.65:83,0,208 1 247419509 247419509 T C exonic VN1R5 unknown UNKNOWN 0.78 0.56 0.89 0.84 0.89 0.84 0.8598 0.6033 0.8682 0.8479 0.8251 0.9037 0.8661 0.8482 0.81 0.61 0.9 0.81 . rs1778540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8629 0.5988 0.8741 0.8644 0.8490 0.8227 0.9094 0.8716 0.8482 0.8069 0.6025 0.8971 0.8709 0.8437 0.8207 0.9076 0.8735 hom 6780.15 218 1 247419509 . T C 6780.15 Mask AC=2;AF=1.00;AN=2;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6486;MQ=59.49;MQ0=0;QD=31.10;VQSLOD=8.8539;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:218:99:6780,518,0 1 247419664 247419664 C T exonic VN1R5 unknown UNKNOWN 0.77 0.52 0.89 0.84 0.89 0.85 0.8576 0.5712 0.8660 0.8483 0.8251 0.9033 0.8638 0.8546 0.8 0.59 0.9 0.81 . rs1778541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8613 0.5674 0.8723 0.8644 0.8493 0.8226 0.9091 0.8705 0.8544 0.7983 0.5729 0.8947 0.8709 0.8418 0.8207 0.9077 0.8727 hom 6911.55 218 1 247419664 . C T 6911.55 Mask AC=2;AF=1.00;AN=2;DP=218;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7219;MQ=59.38;MQ0=0;QD=31.70;VQSLOD=9.3505;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:6911,551,0 1 247587408 247587408 C T exonic NLRP3 synonymous SNV NLRP3:NM_001127462:exon3:c.C663T:p.T221T,NLRP3:NM_001243133:exon3:c.C657T:p.T219T,NLRP3:NM_004895:exon3:c.C663T:p.T221T,NLRP3:NM_183395:exon3:c.C663T:p.T221T,NLRP3:NM_001127461:exon4:c.C663T:p.T221T,NLRP3:NM_001079821:exon5:c.C663T:p.T221T 0.12 0.23 0.088 0.13 0.055 0.036 0.0817 0.2178 0.0837 0.1469 0.0830 0.0606 0.0817 0.0453 0.12 0.22 0.062 0.12 0.057 rs7525979 COSM5426724 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign|Benign not_specified|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Familial_cold_autoinflammatory_syndrome|Chronic_infantile_neurological\x2c_cutaneous_and_articular_syndrome RCV000253525.1|RCV000276738.1|RCV000334195.1|RCV000369011.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268390:191900:ORPHA575:15123008|CN230757|C0409818:607115:ORPHA1451:239826001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0797 0.2218 0.0845 0.0806 0.1425 0.0866 0.0572 0.0801 0.0450 0.1101 0.2134 0.1014 0.0894 0.1407 0.0873 0.0550 0.0804 het 963.92 91 1 247587408 . C T 963.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.172;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.34;MQ0=0;MQRankSum=-0.461;QD=10.59;ReadPosRankSum=0.397;VQSLOD=6.9239;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,39:91:99:994,0,1491 1 247587531 247587531 A G exonic NLRP3 synonymous SNV NLRP3:NM_001127462:exon3:c.A786G:p.R262R,NLRP3:NM_001243133:exon3:c.A780G:p.R260R,NLRP3:NM_004895:exon3:c.A786G:p.R262R,NLRP3:NM_183395:exon3:c.A786G:p.R262R,NLRP3:NM_001127461:exon4:c.A786G:p.R262R,NLRP3:NM_001079821:exon5:c.A786G:p.R262R 0.92 0.84 0.95 1. 0.96 0.88 0.9426 0.8480 0.9690 0.9986 0.9540 0.9594 0.9471 0.8816 0.92 0.85 0.95 0.92 0.94 rs4925543 . . Benign\x2cBenign not_specified\x2cnot_specified RCV000127219.1\x2cRCV000455066.1 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9462 0.8472 0.9714 0.9715 0.9988 0.9502 0.9579 0.9546 0.8834 0.9332 0.8519 0.9737 0.9735 0.9975 0.9522 0.9645 0.9562 hom 3766.26 118 1 247587531 . A G 3766.26 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6208;MQ=59.33;MQ0=0;QD=31.92;VQSLOD=9.7563;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3766,289,0 1 247614386 247614386 T C exonic OR2B11 nonsynonymous SNV OR2B11:NM_001004492:exon1:c.A899G:p.D300G 0.11 0.2 0.18 0.001 0.14 0.043 0.1286 0.2021 0.1469 0.0013 0.1261 0.1402 0.1282 0.0625 0.16 0.2 0.15 0.12 0.16 rs12070953 . . . . . . . . . . . . . 0.001 0.784 D 0.001 0.067 B 0.001 0.040 B 0.002 0.385 N 0.197 0.345 P 2.97 0.856 M 1.07 0.396 T -5.34 0.846 D 0.117 0.132 -1.081 0.071 T 0.000 0.000 T . . . 1.496 0.242 13.29 0.970 0.315 0.971 0.726 D c -0.181 -0.229 0.433 0.204 0.487 0.133 0 2.72 0.310 5.533 0.667 0.982 0.598 1.000 0.715 0.017 0.128 5.604 0.165 . . . 0.1291 0.2044 0.1542 0.1687 0.0015 0.1285 0.1426 0.1260 0.0637 0.1480 0.2036 0.1695 0.1933 0.0019 0.1228 0.1368 0.1224 het 2976.44 250 1 247614386 . T C 2976.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.355;DP=250;DS;Dels=0.00;FS=0.985;HRun=1;HaplotypeScore=1.9318;MQ=59.00;MQ0=0;MQRankSum=-0.137;QD=11.91;ReadPosRankSum=-1.618;VQSLOD=6.2599;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:3006,0,3867 1 247614407 247614407 G A exonic OR2B11 nonsynonymous SNV OR2B11:NM_001004492:exon1:c.C878T:p.T293I 0.11 0.2 0.18 0.001 0.13 0.043 0.1286 0.2021 0.1468 0.0013 0.1261 0.1401 0.1304 0.0625 0.16 0.2 0.15 0.12 0.16 rs12065526 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.996 0.232 P -3.8 0.000 N 2.05 0.207 T 4.74 0.000 N 0.088 0.084 -0.985 0.340 T 0.000 0.000 T . . . -0.036 0.090 2.255 0.618 0.066 0.008 0.033 N c -1.130 -0.755 0.999 0.381 0.487 0.133 0 5.09 0.685 5.674 0.676 0.236 0.261 1.000 0.715 0.931 0.405 9.414 0.375 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1287 0.2042 0.1539 0.1678 0.0015 0.1281 0.1422 0.1248 0.0633 0.1481 0.2041 0.1687 0.1933 0.0019 0.1228 0.1368 0.1224 het 3051.59 250 1 247614407 . G A 3051.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.058;DP=250;DS;Dels=0.00;FS=3.686;HRun=0;HaplotypeScore=2.8385;MQ=58.97;MQ0=0;MQRankSum=0.852;QD=12.21;ReadPosRankSum=-0.564;VQSLOD=6.1434;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:3082,0,4101 1 247614553 247614553 C T exonic OR2B11 synonymous SNV OR2B11:NM_001004492:exon1:c.G732A:p.T244T 0.11 0.19 0.18 0.001 0.13 0.044 0.1273 0.1976 0.1472 0.0017 0.1262 0.1412 0.1244 0.0741 0.16 0.2 0.14 0.12 0.16 rs12086048 COSM328601 11(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1269 0.1995 0.1540 0.1591 0.0017 0.1270 0.1416 0.1312 0.0673 0.1464 0.1988 0.1699 0.1755 0.0025 0.1226 0.1366 0.1230 het 2464.85 193 1 247614553 . C T 2464.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.522;DP=193;DS;Dels=0.00;FS=2.583;HRun=0;HaplotypeScore=5.9570;MQ=59.78;MQ0=0;MQRankSum=-0.325;QD=12.77;ReadPosRankSum=-1.940;VQSLOD=4.2180;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:98,95:193:99:2495,0,2441 1 247614693 247614693 C T exonic OR2B11 nonsynonymous SNV OR2B11:NM_001004492:exon1:c.G592A:p.V198M 0.9 0.62 0.97 1. 1. 1. 0.9695 0.6787 0.9826 1 1 0.9983 0.9790 0.9981 0.9 0.7 1. 0.85 0.97 rs6695302 . . . . . . . . . . . . . 0.23 0.183 T 0.007 0.131 B 0.009 0.133 B 0.672 0.060 N 1 0.090 P 1.025 0.256 L 8.62 0.002 T -0.44 0.146 N 0.036 0.016 -0.923 0.452 T 0.000 0.000 T . . . -0.559 0.052 0.158 0.816 0.133 0.008 0.031 N c -1.065 -1.132 0.373 0.199 0.487 0.133 0 -1.39 0.085 -3.641 0.005 0.059 0.165 0.000 0.063 0.002 0.062 5.376 0.154 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9756 0.6741 0.9809 0.9980 1 1 0.9983 0.9816 0.9980 0.9097 0.6840 0.9809 0.9934 1 1 0.9989 0.9908 hom 2560.96 77 1 247614693 . C T 2560.96 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=33.26;VQSLOD=9.9863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2594,220,0 1 247614896 247614896 A C exonic OR2B11 nonsynonymous SNV OR2B11:NM_001004492:exon1:c.T389G:p.I130S 0.37 0.12 0.34 0.45 0.47 0.55 0.4321 0.1605 0.3554 0.4556 0.3837 0.4543 0.4525 0.5733 0.36 0.17 0.46 0.34 0.48 rs11583410 COSM3751085 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.998 0.715 D 0.905 0.625 P 0.000 0.559 D 0.010 0.410 P 4.12 0.975 H 0.26 0.593 T -5.34 0.846 D 0.422 0.479 -0.959 0.394 T 0.000 0.000 T . . . 5.103 0.688 25.3 0.995 0.650 0.984 0.821 D c 0.899 0.764 1.000 0.747 0.487 0.133 0 4.96 0.650 6.817 0.749 1.187 0.908 1.000 0.715 0.998 0.697 12.924 0.575 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4326 0.1559 0.3553 0.5225 0.4531 0.3699 0.4552 0.4503 0.5749 0.3585 0.1692 0.3873 0.5 0.4752 0.3712 0.4446 0.4233 het 1819.77 146 1 247614896 . A C 1819.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.656;DP=146;Dels=0.00;FS=9.305;HRun=0;HaplotypeScore=4.0511;MQ=58.95;MQ0=0;MQRankSum=-1.193;QD=12.46;ReadPosRankSum=-2.165;VQSLOD=3.2944;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,66:146:99:1850,0,2172 1 247654498 247654498 G A exonic OR2W5 synonymous SNV OR2W5:NM_001004698:exon1:c.G69A:p.L23L 0.13 0.15 0.22 0.029 0.19 0.081 0.1755 0.1463 0.2444 0.0278 0.2287 0.2053 0.1729 0.0816 0.19 0.15 0.21 0.14 0.15 rs61070846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1814 0.1455 0.2430 0.1990 0.0277 0.2346 0.2065 0.1831 0.0824 0.1867 0.1565 0.2458 0.2185 0.0243 0.2298 0.2073 0.1945 het 1375.63 102 1 247654498 . G A 1375.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.453;DP=102;Dels=0.00;FS=4.921;HRun=0;HaplotypeScore=0.9933;MQ=59.09;MQ0=0;MQRankSum=-1.004;QD=13.49;ReadPosRankSum=0.683;VQSLOD=5.3415;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,51:102:99:1406,0,1430 1 247654993 247654993 T C exonic OR2W5 synonymous SNV OR2W5:NM_001004698:exon1:c.T564C:p.S188S 0.32 0.45 0.25 0.27 0.32 0.26 0.2944 0.4407 0.2165 0.3040 0.2768 0.2963 0.2914 0.2510 0.35 0.44 0.3 0.39 0.32 rs10925061 COSM4415568 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2912 0.4407 0.2224 0.3720 0.3045 0.2727 0.2960 0.3124 0.2505 0.3348 0.4415 0.2620 0.3377 0.3092 0.2804 0.2932 0.3184 het 4134.09 244 1 247654993 . T C 4134.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.932;DP=244;DS;Dels=0.00;FS=1.552;HRun=1;HaplotypeScore=3.8056;MQ=59.64;MQ0=0;MQRankSum=-0.642;QD=16.87;ReadPosRankSum=-0.477;VQSLOD=5.6602;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:123,121:244:99:3486,0,3555 1 247655275 247655275 T C exonic OR2W5 synonymous SNV OR2W5:NM_001004698:exon1:c.T846C:p.H282H 0.32 0.46 0.24 0.26 0.32 0.26 0.2956 0.4560 0.2165 0.2989 0.2769 0.2969 0.2909 0.2510 0.35 0.45 0.3 0.4 0.32 rs12141850 COSM4416243 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2926 0.4528 0.2246 0.3727 0.2989 0.2729 0.2969 0.3152 0.2516 0.3635 0.4872 0.2707 0.3627 0.3354 0.2854 0.3200 0.3406 het 4143.84 229 1 247655275 . T C 4143.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.397;DP=229;DS;Dels=0.00;FS=6.876;HRun=0;HaplotypeScore=5.8101;MQ=59.35;MQ0=0;MQRankSum=-1.078;QD=18.10;ReadPosRankSum=-0.666;VQSLOD=3.3500;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,131:229:99:3580,0,2480 1 247695612 247695612 G A exonic OR2C3 nonsynonymous SNV OR2C3:NM_198074:exon2:c.C202T:p.P68S 1. 0.99 1. 1. 1. 1. 0.9995 0.9949 0.9992 1 1 1.0000 1 1 1. 0.99 1. 0.99 1. rs6657127 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.374 N 0.000 0.810 P -3.165 0.000 N 5.49 0.010 T 4.88 0.000 N 0.21 0.258 -0.987 0.333 T 0.000 0.000 T . . . 0.656 0.157 8.535 0.808 0.129 0.011 0.040 N c -1.366 -1.026 0.062 0.153 0.487 0.133 0 4.04 0.461 0.897 0.278 0.117 0.209 0.180 0.238 0.991 0.552 7.934 0.289 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9996 0.9950 0.9992 1 1 1 1 0.9996 0.9999 0.9980 0.9932 0.9988 1 1 1 1 0.9990 hom 4594.40 150 1 247695612 . G A 4594.40 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6075;MQ=58.88;MQ0=0;QD=30.63;VQSLOD=9.2184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,149:150:99:4594,376,0 1 247695756 247695756 T C exonic OR2C3 nonsynonymous SNV OR2C3:NM_198074:exon2:c.A58G:p.T20A 0.98 0.92 0.99 1. 1. 1. 0.9925 0.9278 0.9945 0.9999 1 0.9988 0.9879 0.9994 0.97 0.93 1. 0.96 1. rs6697472 . . . . . . . . . . . . . 0.046 0.405 D 0.0 0.026 B 0.0 0.013 B 0.473 0.122 N 1.000 0.090 P 0.255 0.098 N 8.13 0.003 T -0.57 0.172 N 0.004 0.000 -0.912 0.466 T 0.000 0.000 T . . . -0.105 0.084 1.695 0.923 0.211 0.001 0.006 N c -1.134 -1.133 0.000 0.029 0.487 0.133 0 2.04 0.257 -1.409 0.026 -0.019 0.130 0.000 0.063 0.254 0.228 3.392 0.068 . . . 0.9939 0.9290 0.9943 0.9989 0.9999 1 0.9987 0.9923 0.9992 0.9817 0.9371 0.9976 1 1 1 0.9991 0.9969 hom 3493.62 112 1 247695756 . T C 3493.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.639;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7074;MQ=59.38;MQ0=0;MQRankSum=-1.330;QD=31.19;ReadPosRankSum=0.804;VQSLOD=9.0788;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,111:112:99:3471,288,0 1 247752019 247752019 G C exonic OR2G2 nonsynonymous SNV OR2G2:NM_001001915:exon1:c.G358C:p.V120L 0.58 0.16 0.67 0.76 0.71 0.75 0.6779 0.2338 0.7268 0.7922 0.6824 0.7043 0.6806 0.7552 0.55 0.25 0.71 0.56 0.69 rs1151687 COSM1178405 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(meninges) . . . . . . . . . . . 0.004 0.654 D 0.112 0.247 B 0.082 0.276 B 0.007 0.317 U 1.000 0.090 P 1.74 0.453 L 3.49 0.051 T -2.41 0.529 N 0.254 0.310 -1.090 0.055 T 0.000 0.000 T . . . 3.201 0.444 22.7 0.990 0.495 0.146 0.183 N c -0.403 -0.407 0.000 0.029 0.487 0.133 0 3.37 0.375 0.999 0.292 0.702 0.300 0.005 0.169 0.005 0.090 9.752 0.395 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236817.1 Testis 0.6895 0.2289 0.7226 0.7529 0.7973 0.6759 0.7041 0.7022 0.7563 0.5805 0.2417 0.7249 0.78 0.8083 0.6761 0.7120 0.6843 het 4236.99 250 1 247752019 . G C 4236.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.559;DP=250;DS;Dels=0.00;FS=2.266;HRun=0;HaplotypeScore=6.9711;MQ=59.14;MQ0=0;MQRankSum=0.011;QD=16.95;ReadPosRankSum=-0.128;VQSLOD=4.4763;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,125:250:99:3565,0,3564 1 247752161 247752161 T C exonic OR2G2 nonsynonymous SNV OR2G2:NM_001001915:exon1:c.T500C:p.L167P 0.31 0.058 0.35 0.52 0.41 0.28 0.3623 0.0934 0.3757 0.5234 0.3677 0.3998 0.3720 0.2839 0.3 0.11 0.4 0.29 0.36 rs10925085 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.99 0.774 D 0.009 0.307 U 0.726 0.299 P 2.745 0.805 M 8.48 0.002 T -5.75 0.877 D 0.385 0.445 -1.097 0.044 T 0.000 0.000 T . . . 5.180 0.699 25.5 0.999 0.945 0.063 0.122 N c 0.320 0.159 0.001 0.085 0.487 0.133 0 4.29 0.502 -0.859 0.044 -0.610 0.043 0.000 0.063 0.000 0.016 11.468 0.493 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3692 0.0910 0.3731 0.4432 0.5246 0.3712 0.3982 0.3897 0.2827 0.3124 0.1043 0.4031 0.4371 0.5136 0.3743 0.3850 0.3880 hom 7966.96 250 1 247752161 . T C 7966.96 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.2176;MQ=59.14;MQ0=0;QD=31.87;VQSLOD=7.4302;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7965,671,0 1 247752367 247752367 A G exonic OR2G2 nonsynonymous SNV OR2G2:NM_001001915:exon1:c.A706G:p.R236G 0.39 0.31 0.34 0.44 0.52 0.34 0.4545 0.3176 0.2946 0.4652 0.5493 0.5070 0.4879 0.3948 0.44 0.31 0.5 0.35 0.44 rs869111 COSM3997392 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.368 N 1.000 0.090 P -2.92 0.000 N 9.24 0.000 T 6.57 0.000 N 0.035 0.015 -1.023 0.228 T 0.000 0.000 T . . . -0.348 0.065 0.515 0.439 0.033 0.001 0.009 N c -1.488 -1.289 0.000 0.046 0.487 0.133 0 4.29 0.502 0.491 0.220 -0.097 0.117 0.016 0.191 0.000 0.016 10.187 0.420 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4527 0.3150 0.3041 0.4826 0.4726 0.5456 0.5049 0.4834 0.4001 0.4476 0.3136 0.3652 0.4934 0.4623 0.5561 0.4994 0.4939 het 2030.37 166 1 247752367 . A G 2030.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.041;DP=166;Dels=0.00;FS=15.539;HRun=2;HaplotypeScore=1.3990;MQ=60.00;MQ0=0;MQRankSum=-0.955;QD=12.23;ReadPosRankSum=0.188;VQSLOD=3.7500;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,77:166:99:2060,0,2534 1 247769752 247769752 A G exonic OR2G3 nonsynonymous SNV OR2G3:NM_001001914:exon1:c.A865G:p.I289V 0.34 0.23 0.31 0.43 0.44 0.3 0.3979 0.2460 0.2659 0.4538 0.4862 0.4370 0.4259 0.3604 0.36 0.24 0.42 0.28 0.39 rs61730407 COSM3997393 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.013 0.538 D 0.992 0.629 D 0.994 0.807 D 0.002 0.370 U 1.000 0.205 P 2.05 0.567 M 0.68 0.520 T -0.94 0.251 N 0.118 0.130 -0.969 0.374 T 0.000 0.000 T . . . 2.848 0.403 21.6 0.998 0.919 0.260 0.226 N c 0.330 0.166 0.000 0.012 0.487 0.133 0 3.65 0.408 0.650 0.244 0.761 0.310 0.118 0.229 0.996 0.625 10.591 0.443 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3974 0.2405 0.2728 0.4614 0.4618 0.4864 0.4312 0.4278 0.3647 0.3818 0.2374 0.3170 0.4868 0.4597 0.4963 0.4287 0.4335 het 920.76 94 1 247769752 . A G 920.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.962;DP=94;Dels=0.00;FS=0.777;HRun=0;HaplotypeScore=3.8427;MQ=58.16;MQ0=0;MQRankSum=1.570;QD=9.80;ReadPosRankSum=-0.749;VQSLOD=4.9705;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,42:94:99:951,0,1345 1 247835950 247835950 T C exonic OR13G1 nonsynonymous SNV OR13G1:NM_001005487:exon1:c.A394G:p.I132V 0.41 0.13 0.59 0.6 0.42 0.43 0.4453 0.1626 0.6833 0.6035 0.4018 0.4342 0.4281 0.4382 0.34 0.17 0.42 0.34 0.43 rs1151640 COSM1341001 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.206 0.199 T 0.002 0.090 B 0.006 0.112 B 0.450 0.125 N 1 0.090 P 1.055 0.270 L 5.83 0.007 T -0.32 0.123 N 0.045 0.052 -1.077 0.078 T 0.000 0.000 T . . . -1.000 0.032 0.016 0.738 0.101 0.053 0.110 N c -1.180 -1.270 0.000 0.012 0.487 0.133 0 -3.4 0.045 0.155 0.161 0.858 0.375 0.003 0.159 0.062 0.172 5.921 0.182 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000197437.2 Testis 0.4575 0.1559 0.6677 0.4220 0.5980 0.4103 0.4332 0.4492 0.4353 0.3637 0.1613 0.6098 0.4564 0.5714 0.4024 0.4306 0.4264 hom 3523.64 102 1 247835950 . T C 3523.64 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=34.55;VQSLOD=9.9857;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3523,277,0 1 247875314 247875314 C A exonic OR6F1 synonymous SNV OR6F1:NM_001005286:exon1:c.G744T:p.V248V 0.034 0.0045 0.063 0.002 0.074 0.043 0.0547 0.0139 0.0377 0.0003 0.0738 0.0713 0.0639 0.0457 0.052 0.013 0.072 0.054 0.074 rs41268353 COSM4143633 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0571 0.0125 0.0434 0.1180 0.0002 0.0703 0.0699 0.0707 0.0483 0.0485 0.0126 0.0537 0.1126 0.0019 0.0713 0.0672 0.0540 het 1500.51 155 1 247875314 . C A 1500.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.589;DP=155;Dels=0.00;FS=7.417;HRun=1;HaplotypeScore=0.8941;MQ=59.19;MQ0=0;MQRankSum=0.127;QD=9.68;ReadPosRankSum=0.175;VQSLOD=4.2128;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,59:155:99:1531,0,2946 1 247875415 247875415 A G exonic OR6F1 nonsynonymous SNV OR6F1:NM_001005286:exon1:c.T643C:p.F215L 0.35 0.69 0.2 0.24 0.21 0.26 0.2534 0.6228 0.1299 0.2434 0.1664 0.2284 0.2335 0.2494 0.36 0.6 0.23 0.47 0.3 rs2282316 COSM146849 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.997 0.019 T 0.0 0.026 B 0.0 0.013 B 0.004 0.341 N 1 0.090 P -1.87 0.003 N 9.09 0.000 T 1.98 0.004 N 0.025 0.009 -0.882 0.497 T 0.000 0.000 T . . . -1.624 0.014 0.002 0.376 0.025 0.009 0.036 N c -1.798 -1.754 0.000 0.012 0.554 0.246 0 -1.83 0.074 -1.940 0.016 -1.111 0.018 0.000 0.063 0.000 0.016 2.261 0.038 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2410 0.6261 0.1459 0.2848 0.2396 0.1651 0.2265 0.2286 0.2498 0.3223 0.6108 0.1623 0.2517 0.2367 0.1651 0.2176 0.2210 het 2405.48 204 1 247875415 . A G 2405.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.087;DP=204;Dels=0.00;FS=2.438;HRun=2;HaplotypeScore=4.5506;MQ=59.38;MQ0=0;MQRankSum=2.662;QD=11.79;ReadPosRankSum=-0.183;VQSLOD=4.7777;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:116,88:204:99:2435,0,3271 1 247875608 247875608 C G exonic OR6F1 synonymous SNV OR6F1:NM_001005286:exon1:c.G450C:p.V150V 0.33 0.61 0.21 0.22 0.23 0.23 0.2624 0.5500 0.1319 0.2324 0.2401 0.2570 0.2522 0.2210 0.35 0.54 0.26 0.46 0.26 rs6587382 COSM146850 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2531 0.5556 0.1477 0.2940 0.2292 0.2399 0.2548 0.2446 0.2237 0.3277 0.5454 0.1567 0.2682 0.2265 0.2340 0.2492 0.2566 het 2015.83 128 1 247875608 . C G 2015.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.304;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.76;MQ0=0;MQRankSum=0.106;QD=15.75;ReadPosRankSum=-1.248;VQSLOD=5.5732;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,75:128:99:2046,0,1469 1 247875689 247875689 A G exonic OR6F1 synonymous SNV OR6F1:NM_001005286:exon1:c.T369C:p.C123C 0.16 0.18 0.13 0.22 0.12 0.13 0.1319 0.1816 0.0792 0.2343 0.1034 0.1201 0.1391 0.1429 0.14 0.18 0.12 0.23 0.13 rs7512807 COSM1178406 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1306 0.1822 0.0892 0.1594 0.2315 0.0998 0.1201 0.1275 0.1455 0.1389 0.1801 0.0919 0.1424 0.2272 0.0987 0.1187 0.1163 het 1334.69 89 1 247875689 . A G 1334.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.495;DP=89;Dels=0.00;FS=17.599;HRun=1;HaplotypeScore=2.3548;MQ=59.17;MQ0=0;MQRankSum=0.464;QD=15.00;ReadPosRankSum=-0.849;VQSLOD=3.1002;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,45:89:99:1365,0,1207 1 247921100 247921100 T G exonic OR1C1 synonymous SNV OR1C1:NM_012353:exon1:c.A609C:p.G203G 0.73 0.45 0.88 0.77 0.91 0.79 0.8463 0.4934 0.9230 0.7571 0.9466 0.8949 0.8641 0.8101 0.77 0.52 0.89 0.71 0.83 rs1552812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8549 0.4889 0.9147 0.8476 0.7604 0.9481 0.8944 0.8812 0.8121 0.787 0.5058 0.9091 0.8808 0.7651 0.9522 0.8990 0.8778 hom 2467.48 79 1 247921100 . T G 2467.48 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.42;MQ0=0;QD=31.23;VQSLOD=9.3898;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2500,205,0 1 247921352 247921352 C T exonic OR1C1 synonymous SNV OR1C1:NM_012353:exon1:c.G357A:p.A119A 0.84 0.58 0.92 0.99 0.96 0.88 0.9195 0.6196 0.9607 0.9901 0.9763 0.9443 0.9433 0.9074 0.84 0.63 0.94 0.8 0.9 rs1552813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9262 0.6166 0.9586 0.8902 0.9905 0.9776 0.9460 0.9365 0.9097 0.8662 0.6319 0.9535 0.92 0.9895 0.9794 0.9521 0.9358 hom 2728.89 88 1 247921352 . C T 2728.89 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=31.01;VQSLOD=9.2916;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2762,220,0 1 247921412 247921412 G C exonic OR1C1 synonymous SNV OR1C1:NM_012353:exon1:c.C297G:p.T99T 0.031 0.02 0.053 0.001 0.063 0.029 0.0477 0.0245 0.0315 0.0003 0.0690 0.0615 0.0611 0.0324 0.049 0.023 0.061 0.065 0.066 rs41304163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0498 0.0251 0.0365 0.1130 0.0002 0.0667 0.0596 0.0620 0.0342 0.0461 0.0240 0.0465 0.1093 0.0018 0.0684 0.0570 0.0509 het 875.34 81 1 247921412 . G C 875.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.565;DP=81;Dels=0.00;FS=2.965;HRun=0;HaplotypeScore=3.9804;MQ=59.10;MQ0=0;MQRankSum=1.249;QD=10.81;ReadPosRankSum=-0.455;VQSLOD=5.0614;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,34:81:99:905,0,1398 1 247978319 247978319 A G exonic OR14A16 nonsynonymous SNV OR14A16:NM_001001966:exon1:c.T713C:p.I238T 1. 1. 1. 1. 1. 1. 0.9997 0.9967 0.9995 1 1 1.0000 1 1 1. 1. 1. 0.99 1. rs6695283 . . . . . . . . . . . . . 1.0 0.010 T 0.004 0.112 B 0.002 0.063 B 0.000 0.466 N 0.997 0.229 P -3.41 0.000 N 1.48 0.317 T 5.58 0.000 N 0.082 0.075 -0.960 0.393 T 0.000 0.000 T . . . -0.151 0.080 1.378 0.175 0.005 0.004 0.019 N c -1.352 -1.091 0.011 0.121 0.500 0.196 0 3.84 0.433 3.451 0.525 -0.058 0.122 0.998 0.411 0.006 0.095 11.403 0.489 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9997 0.9965 0.9995 1 1 1 1 0.9996 0.9999 0.9986 0.9953 0.9976 1 1 1 1 0.9990 hom 1834.58 58 1 247978319 . A G 1834.58 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=58.55;MQ0=0;QD=31.63;VQSLOD=9.2653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1868,144,0 1 247978542 247978544 AGG - exonic OR14A16 nonframeshift deletion OR14A16:NM_001001966:exon1:c.488_490del:p.S163del 0.72 0.22 0.82 0.99 0.88 0.9 0.8424 0.3014 0.9013 0.9907 0.9241 0.8733 0.8722 0.9043 0.68 0.32 0.87 0.022 . rs375198428 COSM5713052 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8535 0.2921 0.8941 0.8059 0.9924 0.9249 0.8744 0.8404 0.9006 0.7294 0.3064 0.8687 0.8311 0.9895 0.9225 0.8838 0.8684 het 4446.76 224 1 247978541 . AAGG A 4446.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=11.804;DP=224;FS=8.761;HRun=0;HaplotypeScore=885.3411;MQ=57.29;MQ0=0;MQRankSum=-1.318;QD=19.85;ReadPosRankSum=1.339;set=variant2 GT:AD:DP:GQ:PL 0/1:123,101:224:99:4447,0,7529 1 247978996 247978996 A G exonic OR14A16 synonymous SNV OR14A16:NM_001001966:exon1:c.T36C:p.L12L 0.85 0.54 0.9 1. 0.92 0.99 0.9140 0.5986 0.9373 0.9995 0.9513 0.9260 0.9187 0.9775 0.82 0.61 0.93 0.8 0.82 rs10888249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9173 0.5903 0.9310 0.8662 0.9997 0.9509 0.9281 0.8985 0.9751 0.8395 0.5891 0.9041 0.8733 0.9981 0.9476 0.9323 0.9257 het 465.48 39 1 247978996 . A G 465.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.113;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=59.04;MQ0=0;MQRankSum=0.155;QD=11.94;ReadPosRankSum=0.634;VQSLOD=6.7563;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,18:39:99:495,0,551 1 248004296 248004296 A G exonic OR11L1 synonymous SNV OR11L1:NM_001001959:exon1:c.T903C:p.V301V 0.15 0.36 0.13 0.004 0.1 0.075 0.1083 0.3378 0.0631 0.0025 0.0755 0.1079 0.0806 0.0671 0.19 0.34 0.12 0.15 0.11 rs6681483 COSM5983411 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1027 0.3409 0.0675 0.1129 0.0016 0.0729 0.1104 0.1065 0.0693 0.1627 0.3439 0.0943 0.0933 0.0012 0.0647 0.1061 0.1166 het 1795.27 148 1 248004296 . A G 1795.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.343;DP=148;Dels=0.00;FS=3.909;HRun=0;HaplotypeScore=1.8936;MQ=59.55;MQ0=0;MQRankSum=0.431;QD=12.13;ReadPosRankSum=-0.692;VQSLOD=6.4408;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,69:148:99:1825,0,2255 1 248004614 248004614 G A exonic OR11L1 synonymous SNV OR11L1:NM_001001959:exon1:c.C585T:p.T195T 0.85 0.62 0.87 1. 0.9 0.93 0.8915 0.6540 0.9364 0.9975 0.9246 0.8929 0.9194 0.9332 0.8 0.65 0.88 0.84 0.84 rs6667389 COSM4143635 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8970 0.6496 0.9320 0.8872 0.9984 0.9272 0.8904 0.8935 0.9310 0.8350 0.6469 0.9033 0.9133 0.9988 0.9353 0.8948 0.8806 het 4274.42 249 1 248004614 . G A 4274.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.144;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9228;MQ=59.23;MQ0=0;MQRankSum=0.641;QD=17.17;ReadPosRankSum=0.445;VQSLOD=3.9647;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,129:249:99:3632,0,3033 1 248004687 248004687 C G exonic OR11L1 nonsynonymous SNV OR11L1:NM_001001959:exon1:c.G512C:p.R171P 0.87 0.71 0.87 1. 0.9 0.93 0.8983 0.7270 0.9405 0.9975 0.9246 0.8931 0.9240 0.9334 0.83 0.73 0.88 0.86 0.88 rs10888255 COSM4143636 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.049 0.231 N 1.000 0.198 P -1.55 0.005 N 1.29 0.358 T 4.83 0.000 N 0.053 0.035 -0.964 0.384 T 0.000 0.000 T . . . 0.863 0.176 9.848 0.192 0.006 0.004 0.019 N c -1.207 -1.005 0.000 0.029 0.487 0.133 0 4.27 0.498 1.912 0.393 0.097 0.197 0.021 0.196 0.083 0.182 9.062 0.354 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9024 0.7239 0.9360 0.8875 0.9984 0.9272 0.8906 0.8968 0.9312 0.8555 0.7184 0.9045 0.9073 0.9988 0.9355 0.8955 0.8824 het 3012.88 206 1 248004687 . C G 3012.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.922;DP=206;DS;Dels=0.00;FS=9.352;HRun=1;HaplotypeScore=3.7428;MQ=57.72;MQ0=0;MQRankSum=0.490;QD=14.63;ReadPosRankSum=0.618;VQSLOD=4.0931;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:104,102:206:99:3043,0,2866 1 248004775 248004775 C T exonic OR11L1 nonsynonymous SNV OR11L1:NM_001001959:exon1:c.G424A:p.A142T 0.89 0.78 0.88 1. 0.9 0.93 0.9033 0.7806 0.9435 0.9975 0.9244 0.8933 0.9249 0.9333 0.85 0.78 0.88 0.92 0.89 rs10888256 . . . . . . . . . . . . . 0.51 0.075 T 0.0 0.026 B 0.01 0.139 B 0.926 0.084 N 1 0.090 P 1.345 0.336 L 1.18 0.377 T 0.72 0.021 N 0.011 0.001 -0.988 0.331 T 0.000 0.000 T . . . -0.622 0.049 0.110 0.258 0.012 0.011 0.040 N c -1.401 -1.379 0.000 0.012 0.487 0.133 0 1.79 0.239 -4.585 0.002 -0.260 0.088 0.000 0.063 0.003 0.074 9.314 0.369 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9064 0.7782 0.9392 0.8873 0.9984 0.9272 0.8909 0.8986 0.9312 0.8711 0.7729 0.9069 0.9073 0.9988 0.9353 0.8956 0.8859 het 1480.30 147 1 248004775 . C T 1480.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.246;DP=147;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=57.31;MQ0=0;MQRankSum=3.402;QD=10.07;ReadPosRankSum=-1.286;VQSLOD=3.8556;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,58:147:99:1510,0,2724 1 248004848 248004848 G C exonic OR11L1 nonsynonymous SNV OR11L1:NM_001001959:exon1:c.C351G:p.F117L 0.89 0.78 0.88 1. 0.9 0.93 0.9033 0.7810 0.9437 0.9973 0.9247 0.8937 0.9244 0.9321 0.85 0.78 0.88 0.92 0.89 rs4607924 COSM4143637 1(thyroid) . . . . . . . . . . . 0.093 0.315 T 0.0 0.026 B 0.0 0.013 B 0.351 0.138 U 1.000 0.090 P -0.55 0.024 N 5.03 0.013 T 1.39 0.009 N 0.045 0.025 -0.993 0.318 T 0.000 0.000 T . . . 0.389 0.131 6.513 0.933 0.224 0.013 0.045 N c -1.180 -1.150 0.000 0.012 0.487 0.133 0 1.29 0.206 -0.968 0.039 -1.763 0.007 0.000 0.063 0.006 0.095 9.089 0.356 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9064 0.7784 0.9392 0.8872 0.9983 0.9272 0.8912 0.8987 0.9301 0.8713 0.7736 0.9069 0.9073 0.9988 0.9353 0.8956 0.8859 het 1314.42 79 1 248004848 . G C 1314.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.875;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7318;MQ=57.62;MQ0=0;MQRankSum=0.349;QD=16.64;ReadPosRankSum=1.481;VQSLOD=3.8760;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,43:79:99:1344,0,1052 1 248004877 248004877 C T exonic OR11L1 nonsynonymous SNV OR11L1:NM_001001959:exon1:c.G322A:p.G108S 0.87 0.71 0.87 1. 0.9 0.93 0.8983 0.7274 0.9407 0.9974 0.9246 0.8935 0.9226 0.9319 0.83 0.73 0.88 0.86 0.89 rs10888257 . . . . . . . . . . . . . 0.02 0.496 D 0.998 0.715 D 0.892 0.615 P 0.002 0.369 U 0.996 0.232 P 1.49 0.374 L 4.44 0.022 T -3.6 0.693 D 0.073 0.062 -0.950 0.410 T 0.000 0.000 T . . . 1.578 0.251 13.73 0.955 0.265 0.126 0.172 N c -0.279 -0.482 0.002 0.087 0.487 0.133 0 3.29 0.366 0.273 0.183 0.033 0.151 0.000 0.063 0.000 0.016 10.106 0.415 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9025 0.7246 0.9360 0.8873 0.9984 0.9273 0.8910 0.8967 0.9298 0.8559 0.7195 0.9045 0.9073 0.9988 0.9356 0.8955 0.8827 het 1103.19 77 1 248004877 . C T 1103.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.921;DP=77;Dels=0.00;FS=4.383;HRun=0;HaplotypeScore=3.8770;MQ=58.61;MQ0=0;MQRankSum=1.972;QD=14.33;ReadPosRankSum=-1.676;VQSLOD=4.4292;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,38:77:99:1133,0,1041 1 248004884 248004884 T C exonic OR11L1 synonymous SNV OR11L1:NM_001001959:exon1:c.A315G:p.V105V 0.96 0.89 0.95 1. 0.96 1. 0.9691 0.9041 0.9731 1 0.9901 0.9665 0.98 0.9924 0.94 0.9 0.96 0.96 0.98 rs1339845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9702 0.9028 0.9713 0.9553 0.9999 0.9917 0.9657 0.9646 0.9924 0.9523 0.8954 0.9570 0.9603 1 0.9914 0.9697 0.9653 het 724.02 71 1 248004884 . T C 724.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.398;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=59.15;MQ0=0;MQRankSum=-0.146;QD=10.20;ReadPosRankSum=-0.357;VQSLOD=6.4858;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,29:71:99:754,0,1118 1 248039451 248039451 C T exonic TRIM58 nonsynonymous SNV TRIM58:NM_015431:exon6:c.C1121T:p.T374M 0.23 0.04 0.29 0.23 0.34 0.31 0.3049 0.0811 0.2726 0.2429 0.3472 0.3399 0.2963 0.3429 0.26 0.089 0.35 0.17 0.42 rs3811444 COSM146852 1(stomach);1(pancreas);2(large_intestine) . . . . . Platelet counts . -3.35 22139419 rs3811444 6E-9 0.211 0.195 T 0.999 0.764 D 0.964 0.693 D 0.027 0.258 N 1.000 0.200 P 2.065 0.569 M -0.4 0.693 T -1.24 0.314 N 0.104 0.109 -1.046 0.154 T 0.000 0.000 T . . . 2.547 0.367 19.77 0.985 0.418 0.080 0.138 N c -0.349 -0.582 0.000 0.035 0.554 0.246 0 2.21 0.269 -0.508 0.064 0.069 0.176 0.000 0.063 0.001 0.043 4.515 0.113 B30.2/SPRY domain|Concanavalin A-like lectin/glucanase domain|SPRY domain ENSG00000197067.4 Whole_Blood 0.3116 0.0784 0.2887 0.3773 0.2420 0.3457 0.3387 0.3169 0.3468 0.2621 0.0887 0.3058 0.3477 0.2494 0.3399 0.3397 0.2986 hom 4297.19 134 1 248039451 . C T 4297.19 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6609;MQ=58.78;MQ0=0;QD=32.07;VQSLOD=9.0235;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4297,343,0 1 248039713 248039713 A G exonic TRIM58 synonymous SNV TRIM58:NM_015431:exon6:c.A1383G:p.T461T 0.58 0.53 0.71 0.54 0.59 0.61 0.6086 0.5697 0.7059 0.5830 0.6007 0.5910 0.6189 0.6523 0.59 0.57 0.59 0.6 0.63 rs3811445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6126 0.5721 0.7046 0.6356 0.5777 0.6000 0.5860 0.5832 0.6551 0.5878 0.5763 0.7050 0.6457 0.5713 0.6040 0.5863 0.5637 hom 5314.91 166 1 248039713 . A G 5314.91 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2558;MQ=59.64;MQ0=0;QD=32.02;VQSLOD=8.1456;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5314,433,0 1 248059353 248059355 CTC - exonic OR2W3 nonframeshift deletion OR2W3:NM_001001957:exon1:c.465_467del:p.S156del 0.021 0.0023 0.036 . 0.048 0.029 0.0361 0.0075 0.0152 0 0.0398 0.0487 0.0298 0.0359 0.036 0.0096 0.05 . . rs147816311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0366 0.0071 0.0199 0.0317 5.798e-05 0.0422 0.0503 0.0357 0.0378 0.0341 0.0097 0.0277 0.0397 0 0.0419 0.0502 0.0369 het 3372.28 140 1 248059352 . ACTC A 3372.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.762;DP=140;FS=2.159;HRun=0;HaplotypeScore=623.7077;MQ=54.68;MQ0=0;MQRankSum=-3.657;QD=23.92;ReadPosRankSum=-0.366;set=variant2 GT:AD:DP:GQ:PL 0/1:64,77:140:99:3372,0,3983 1 248059423 248059423 C T exonic OR2W3 nonsynonymous SNV OR2W3:NM_001001957:exon1:c.C535T:p.R179C 0.39 0.14 0.35 0.57 0.53 0.42 0.4775 0.2189 0.3453 0.5547 0.5681 0.5357 0.4956 0.4202 0.43 0.23 0.53 0.34 0.49 rs10888267 COSM3751095 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.000 0.629 N 0.995 0.233 P -4.2 0.000 N 2.44 0.152 T 11.5 0.000 N 0.114 0.124 -0.914 0.464 T 0.000 0.000 T . . . 2.231 0.329 17.71 0.129 0.002 0.036 0.087 N c -1.123 -0.728 0.000 0.042 0.487 0.133 0 4.15 0.478 4.589 0.605 0.115 0.208 1.000 0.715 0.991 0.552 8.106 0.299 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000238243.2|ENSG00000177462.6 Thyroid|Thyroid 0.4803 0.2165 0.3533 0.5107 0.5610 0.5766 0.5360 0.4881 0.4224 0.4447 0.2219 0.3849 0.5298 0.5800 0.5645 0.5283 0.5245 het 2585.46 181 1 248059423 . C T 2585.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.770;DP=181;Dels=0.00;FS=1.217;HRun=0;HaplotypeScore=3.7499;MQ=56.99;MQ0=0;MQRankSum=-0.672;QD=14.28;ReadPosRankSum=-0.348;VQSLOD=4.0379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,94:181:99:2615,0,2290 1 248059456 248059456 G A exonic OR2W3 nonsynonymous SNV OR2W3:NM_001001957:exon1:c.G568A:p.V190I 0.36 0.054 0.34 0.53 0.55 0.43 0.4613 0.1234 0.2941 0.5182 0.5620 0.5329 0.4615 0.4316 0.4 0.14 0.54 0.3 0.48 rs12135078 COSM1600163 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(central_nervous_system) . . . . . . . . . . . 0.086 0.326 T 0.145 0.261 B 0.104 0.295 B 0.120 0.190 N 1 0.090 P 1.87 0.498 L 8.76 0.001 T -0.86 0.234 N 0.024 0.007 -1.000 0.298 T 0.000 0.000 T . . . -0.279 0.070 0.741 0.946 0.247 0.027 0.072 N c -0.956 -1.018 0.000 0.012 0.487 0.133 0 0.041 0.135 -1.619 0.021 -0.296 0.082 0.000 0.063 0.004 0.083 4.048 0.092 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4670 0.1165 0.3078 0.5934 0.5206 0.5694 0.5319 0.4867 0.4314 0.4192 0.1269 0.3397 0.6 0.5267 0.5679 0.5376 0.5163 het 3108.61 203 1 248059456 . G A 3108.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.838;DP=203;Dels=0.00;FS=3.257;HRun=0;HaplotypeScore=2.9962;MQ=57.90;MQ0=0;MQRankSum=-0.205;QD=15.31;ReadPosRankSum=0.968;VQSLOD=4.4185;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,110:203:99:3139,0,2441 1 248059476 248059476 A C exonic OR2W3 nonsynonymous SNV OR2W3:NM_001001957:exon1:c.A588C:p.E196D 0.58 0.26 0.6 0.58 0.8 0.75 0.7155 0.3407 0.5147 0.5609 0.8090 0.8092 0.7390 0.7553 0.66 0.36 0.81 0.48 0.84 rs12139390 COSM3997394 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.007 0.599 D 0.999 0.764 D 0.986 0.754 D 0.000 0.629 D 1.000 0.090 P 2.57 0.754 M 8.44 0.002 T -2.83 0.597 D 0.208 0.255 -0.914 0.464 T 0.000 0.000 T . . . 2.158 0.320 17.23 0.995 0.655 0.089 0.146 N c -0.256 -0.540 0.000 0.012 0.487 0.133 0 -2.08 0.068 -1.688 0.020 -0.178 0.104 0.000 0.063 0.001 0.043 11.115 0.473 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7171 0.3343 0.5370 0.8242 0.5624 0.8126 0.8068 0.7456 0.7570 0.6532 0.3453 0.5861 0.8013 0.5754 0.8105 0.7973 0.7643 hom 7011.83 225 1 248059476 . A C 7011.83 Mask AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6021;MQ=57.77;MQ0=0;QD=31.16;VQSLOD=6.3398;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:7010,587,0 1 248059703 248059703 T A exonic OR2W3 nonsynonymous SNV OR2W3:NM_001001957:exon1:c.T815A:p.M272K 0.48 0.26 0.46 0.59 0.67 0.48 0.5747 0.3401 0.4125 0.5714 0.6502 0.6529 0.6073 0.4898 0.55 0.36 0.65 0.42 0.63 rs11204545 COSM4143640 1(oesophagus);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -2.365 0.001 N 8.92 0.000 T 5.83 0.000 N 0.087 0.083 -1.028 0.212 T 0.000 0.000 T . . . 0.168 0.110 4.340 0.601 0.062 0.005 0.023 N c -1.221 -0.929 0.000 0.038 0.487 0.133 0 5.29 0.743 1.086 0.303 0.194 0.250 0.004 0.165 0.985 0.512 9.445 0.377 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000177462.6|ENSG00000177462.6 Nerve_Tibial|Thyroid 0.5776 0.3363 0.4227 0.6629 0.5755 0.6630 0.6552 0.6072 0.4919 0.5519 0.3423 0.4557 0.6589 0.5815 0.6554 0.6446 0.6376 het 2043.75 143 1 248059703 . T A 2043.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.990;DP=143;Dels=0.00;FS=3.610;HRun=1;HaplotypeScore=5.1740;MQ=58.41;MQ0=0;MQRankSum=-0.163;QD=14.29;ReadPosRankSum=-0.331;VQSLOD=4.2486;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,75:143:99:2074,0,1804 1 248059712 248059712 T C exonic OR2W3 nonsynonymous SNV OR2W3:NM_001001957:exon1:c.T824C:p.M275T 0.48 0.26 0.46 0.59 0.67 0.48 0.5799 0.3417 0.4132 0.5727 0.6677 0.6578 0.6150 0.4986 0.55 0.36 0.65 0.43 0.63 rs11204546 COSM4143641 1(oesophagus);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -3.48 0.000 N 8.88 0.000 T 4.11 0.001 N 0.054 0.043 -1.069 0.096 T 0.000 0.000 T . . . -0.635 0.048 0.103 0.239 0.010 0.011 0.040 N c -1.200 -0.913 0.000 0.069 0.487 0.133 0 5.29 0.743 0.260 0.181 -0.389 0.064 0.000 0.063 0.828 0.346 13.231 0.592 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000177462.6 Thyroid 0.5826 0.3377 0.4234 0.6652 0.5762 0.6771 0.6600 0.6116 0.5010 0.5574 0.3433 0.4581 0.6633 0.5817 0.6724 0.6510 0.6430 het 1639.99 134 1 248059712 . T C 1639.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.128;DP=134;Dels=0.00;FS=2.582;HRun=0;HaplotypeScore=8.0514;MQ=58.65;MQ0=0;MQRankSum=-0.169;QD=12.24;ReadPosRankSum=-0.674;VQSLOD=4.6605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,69:134:99:1670,0,1709 1 248059779 248059779 - A exonic OR2W3 frameshift insertion OR2W3:NM_001001957:exon1:c.892dupA:p.A300Gfs*16 0.13 0.13 0.19 0.032 0.13 0.2 0.1475 0.1333 0.1589 0.0289 0.1367 0.1524 0.1258 0.1966 0.15 0.13 0.16 . . rs112696640 COSM128702 7(upper_aerodigestive_tract);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1453 0.1328 0.1663 0.1309 0.0270 0.1266 0.1506 0.1485 0.1929 0.1357 0.1358 0.1766 0.1159 0.0328 0.1256 0.1478 0.1260 het 1747.89 92 1 248059779 . G GA 1747.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.591;DP=92;FS=11.134;HRun=2;HaplotypeScore=275.0093;MQ=59.67;MQ0=0;MQRankSum=-1.714;QD=18.79;ReadPosRankSum=0.096;set=variant2 GT:AD:DP:GQ:PL 0/1:45,48:92:99:1787,0,1186 1 248112809 248112809 A G exonic OR2L8 nonsynonymous SNV OR2L8:NM_001001963:exon1:c.A650G:p.Y217C 0.76 0.28 0.93 0.88 0.95 0.95 0.8623 0.3430 0.9342 0.7840 0.9627 0.9160 0.8789 0.9221 0.75 0.38 0.94 0.52 0.87 rs4925583 . . . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 1.0 0.971 D 0.013 0.289 U 0.000 0.588 P 3.305 0.907 M 6.85 0.005 T -8.54 0.974 D 0.224 0.275 -0.903 0.477 T 0.000 0.000 T . . . 3.760 0.509 23.3 0.983 0.396 0.932 0.573 D c 0.384 0.101 0.000 0.029 0.554 0.246 0 1.8 0.240 7.226 0.774 -0.166 0.106 1.000 0.715 0.002 0.062 8.414 0.316 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000203663.2 Testis 0.8965 0.3478 0.9466 0.8781 0.8460 0.9794 0.9369 0.9076 0.9405 0.7856 0.3782 0.9391 0.9073 0.8745 0.9819 0.9474 0.9274 hom 5220.15 172 1 248112809 . A G 5220.15 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7602;MQ=44.54;MQ0=2;QD=30.35;VQSLOD=2.5962;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5220,427,0 1 248112836 248112836 A G exonic OR2L8 nonsynonymous SNV OR2L8:NM_001001963:exon1:c.A677G:p.H226R 0.76 0.3 0.93 0.88 0.95 0.95 0.8965 0.3914 0.9524 0.8696 0.9791 0.9467 0.9117 0.9534 0.77 0.41 0.95 0.55 0.87 rs4925792 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.004 0.093 B 0.761 0.065 N 1 0.090 P -1.06 0.011 N 9.09 0.000 T -0.72 0.204 N 0.019 0.004 -0.905 0.475 T 0.000 0.000 T . . . -3.548 0.000 0.001 0.571 0.056 0.003 0.017 N c -2.132 -2.144 0.000 0.012 0.554 0.246 0 -3.61 0.042 -2.257 0.013 -3.360 0.001 0.000 0.063 0.000 0.016 9.211 0.363 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000203663.2 Testis 0.9101 0.3852 0.9523 0.8834 0.8761 0.9803 0.9505 0.9183 0.9540 0.7935 0.4036 0.9415 0.9073 0.8778 0.9785 0.9479 0.9296 hom 5932.78 202 1 248112836 . A G 5932.78 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.931;DP=202;Dels=0.00;FS=3.563;HRun=0;HaplotypeScore=0.9469;MQ=49.07;MQ0=2;MQRankSum=1.192;QD=29.37;ReadPosRankSum=-0.096;VQSLOD=3.0442;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,201:202:99:5898,478,0 1 248128929 248128929 G A exonic OR2AK2 nonsynonymous SNV OR2AK2:NM_001004491:exon1:c.G296A:p.S99N 0.37 0.29 0.36 0.46 0.33 0.44 0.3578 0.2911 0.3677 0.4627 0.3382 0.3394 0.3424 0.4583 0.32 0.29 0.33 0.32 0.34 rs6664332 COSM4143649 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.74 0.017 N 5.3 0.011 T 2.4 0.003 N 0.008 0.001 -1.037 0.182 T 0.000 0.000 T . . . -1.834 0.010 0.002 0.734 0.100 0.001 0.005 N c -1.612 -1.536 0.000 0.046 0.487 0.133 0 1.92 0.248 -0.003 0.127 -0.101 0.116 0.000 0.063 0.001 0.043 2.748 0.049 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000196071.3|ENSG00000196071.3|ENSG00000226191.3|ENSG00000203663.2|ENSG00000198128.3|ENSG00000196071.3|ENSG00000196071.3|ENSG00000226191.3|ENSG00000196071.3|ENSG00000196071.3|ENSG00000203663.2|ENSG00000196071.3|ENSG00000198128.3|ENSG00000196071.3|ENSG00000196071.3|ENSG00000196071.3 Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|Spleen|Thyroid 0.3575 0.2857 0.3646 0.2664 0.4584 0.3405 0.3406 0.3309 0.4523 0.3385 0.2811 0.3720 0.2649 0.4324 0.3446 0.3593 0.3487 het 2852.81 209 1 248128929 . G A 2852.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.316;DP=209;Dels=0.00;FS=1.719;HRun=1;HaplotypeScore=8.4748;MQ=58.62;MQ0=0;MQRankSum=0.500;QD=13.65;ReadPosRankSum=-0.724;VQSLOD=4.6676;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,101:209:99:2883,0,3149 1 248129240 248129240 G A exonic OR2AK2 nonsynonymous SNV OR2AK2:NM_001004491:exon1:c.G607A:p.V203M 0.43 0.091 0.57 0.46 0.65 0.53 0.5658 0.1728 0.5962 0.4562 0.6504 0.6355 0.6018 0.5306 0.49 0.19 0.64 0.39 0.56 rs4478844 COSM3997400 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.994 0.807 D . . . 1 0.090 P 1.855 0.493 L 8.64 0.002 T -1.05 0.275 N 0.04 0.030 -1.052 0.138 T 0.000 0.000 T . . . 3.997 0.537 23.6 0.997 0.783 0.018 0.055 N c -0.236 -0.497 0.002 0.087 0.487 0.133 0 0.632 0.168 -0.930 0.040 -0.183 0.104 0.000 0.063 0.002 0.062 3.338 0.066 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000196071.3|ENSG00000196071.3|ENSG00000203663.2|ENSG00000196071.3|ENSG00000196071.3|ENSG00000226191.3|ENSG00000196071.3|ENSG00000196071.3|ENSG00000196071.3|ENSG00000198128.3|ENSG00000196071.3|ENSG00000196071.3 Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Nerve_Tibial|Pituitary|Pituitary|Thyroid 0.5745 0.1694 0.5937 0.6250 0.4585 0.6500 0.6364 0.6143 0.5214 0.4921 0.1907 0.5919 0.6556 0.4770 0.6443 0.6177 0.6039 het 1370.96 83 1 248129240 . G A 1370.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.983;DP=83;Dels=0.00;FS=0.911;HRun=0;HaplotypeScore=3.3307;MQ=59.44;MQ0=0;MQRankSum=0.650;QD=16.52;ReadPosRankSum=-0.752;VQSLOD=6.1009;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,48:83:99:1401,0,873 1 248366792 248366792 T C exonic OR2M3 synonymous SNV OR2M3:NM_001004689:exon1:c.T423C:p.C141C 0.25 0.17 0.26 0.35 0.15 0.33 0.1966 0.1602 0.3034 0.3678 0.1385 0.1420 0.1586 0.3013 0.15 0.16 0.15 0.16 0.15 rs12562957 COSM3751100 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1991 0.1607 0.3016 0.0534 0.3714 0.1331 0.1470 0.1677 0.2988 0.1719 0.1490 0.2602 0.0533 0.4119 0.1446 0.1633 0.1738 hom 7789.85 250 1 248366792 . T C 7789.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.619;DP=250;DS;Dels=0.00;FS=4.411;HRun=0;HaplotypeScore=6.1276;MQ=58.25;MQ0=0;MQRankSum=-0.856;QD=31.16;ReadPosRankSum=0.257;VQSLOD=3.2246;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7752,626,0 1 248402758 248402758 C T exonic OR2M4 synonymous SNV OR2M4:NM_017504:exon1:c.C528T:p.H176H 0.7 0.43 0.75 0.8 0.73 0.91 0.7488 0.4940 0.7650 0.8014 0.7842 0.7415 0.7676 0.8851 0.66 0.5 0.75 0.55 0.74 rs6666148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7521 0.4879 0.7642 0.6234 0.8054 0.7859 0.7466 0.7390 0.8792 0.6931 0.5129 0.7650 0.6159 0.8139 0.7888 0.7538 0.7847 hom 7373.79 242 1 248402758 . C T 7373.79 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=2.4968;MQ=59.33;MQ0=0;QD=30.47;VQSLOD=9.1033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:7373,581,0 1 248457979 248457979 C A exonic OR2T12 nonsynonymous SNV OR2T12:NM_001004692:exon1:c.G902T:p.R301L 0.79 0.75 0.76 0.86 0.72 0.89 0.7749 0.7680 0.7751 0.8586 0.8010 0.7406 0.7863 0.8626 0.75 0.77 0.75 0.73 0.77 rs6667171 COSM4143657 1(pancreas);1(thyroid) . . . . . . . . . . . 0.001 0.784 D 0.01 0.144 B 0.014 0.158 B 0.510 0.051 U 1 0.090 P 2.525 0.740 M 1.04 0.402 T -3.98 0.737 D 0.119 0.132 -0.917 0.459 T 0.000 0.000 T . . . 2.985 0.419 22.2 0.978 0.354 0.002 0.011 N c -1.074 -1.236 0.000 0.012 0.487 0.133 0 -1.12 0.093 -0.463 0.067 -1.114 0.018 0.000 0.063 0.001 0.043 5.252 0.147 . . . 0.7740 0.7666 0.7714 0.7054 0.8632 0.7990 0.7405 0.7551 0.8593 0.7641 0.7657 0.7662 0.6788 0.8566 0.8001 0.7451 0.7838 hom 7956.07 230 1 248457979 . C A 7956.07 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7552;MQ=58.24;MQ0=0;QD=34.59;VQSLOD=7.8520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7955,626,0 1 248457993 248457993 C G exonic OR2T12 nonsynonymous SNV OR2T12:NM_001004692:exon1:c.G888C:p.K296N 0.21 0.0091 0.25 0.36 0.17 0.35 0.2092 0.0353 0.3145 0.3690 0.2094 0.1670 0.2004 0.3324 0.13 0.044 0.17 0.098 0.18 rs11204625 . . . . . . . . . . . . . 0.054 0.386 T 0.952 0.522 P 0.703 0.524 P 0.103 0.198 U 1 0.090 P 1.27 0.322 L 1.02 0.407 T -2.49 0.542 N 0.086 0.081 -1.060 0.117 T 0.000 0.000 T . . . 0.139 0.107 4.026 0.990 0.508 0.020 0.059 N c -0.644 -0.972 0.000 0.012 0.487 0.133 0 -3.42 0.045 -0.310 0.081 0.283 0.269 0.000 0.063 0.004 0.083 4.014 0.091 . . . 0.2158 0.0311 0.3069 0.1410 0.3748 0.2092 0.1675 0.1924 0.3278 0.1611 0.0336 0.2613 0.1457 0.4042 0.2120 0.1884 0.2184 hom 7965.92 243 1 248457993 . C G 7965.92 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6343;MQ=58.33;MQ0=0;QD=32.78;VQSLOD=9.2017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,243:243:99:7965,653,0 1 248458876 248458876 T - exonic OR2T12 frameshift deletion OR2T12:NM_001004692:exon1:c.5delA:p.E2Gfs*1 0.21 0.016 0.24 0.36 0.17 0.35 0.2035 0.0398 0.3141 0.3677 0.2094 0.1672 0.1925 0.3338 0.13 0.047 0.17 0.022 0.17 rs11339452 COSM327981 1(pancreas);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2000 0.0357 0.2802 0.1209 0.3704 0.2023 0.1606 0.1849 0.3073 0.1613 0.0365 0.2637 0.1467 0.4018 0.2115 0.1875 0.2166 hom 3638.34 89 1 248458875 . CT C 3638.34 Mask AC=2;AF=1.00;AN=2;DP=89;FS=0.000;HRun=1;HaplotypeScore=233.4709;MQ=41.03;MQ0=8;QD=34.32;set=variant2 GT:AD:DP:GQ:PL 1/1:2,104:89:99:3638,262,0 1 248487016 248487016 C T exonic OR2M7 synonymous SNV OR2M7:NM_001004691:exon1:c.G855A:p.L285L 0.21 0.0091 0.24 0.36 0.17 0.36 0.2088 0.0353 0.3140 0.3765 0.2083 0.1644 0.2002 0.3391 0.13 0.044 0.17 0.098 0.16 rs4451579 COSM5008419 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2149 0.0311 0.3062 0.1400 0.3823 0.2072 0.1646 0.1914 0.3285 0.1604 0.0334 0.2613 0.1457 0.4113 0.2101 0.1866 0.2184 hom 3952.62 116 1 248487016 . C T 3952.62 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4233;MQ=59.04;MQ0=0;QD=34.07;VQSLOD=6.0230;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3952,322,0 1 248487638 248487638 A G exonic OR2M7 nonsynonymous SNV OR2M7:NM_001004691:exon1:c.T233C:p.V78A 0.8 0.77 0.77 0.86 0.71 0.9 0.7757 0.7747 0.7768 0.8609 0.8013 0.7403 0.7941 0.8632 0.76 0.78 0.75 0.66 0.76 rs7555310 . . . . . . . . . . . . . 0.003 0.682 D 0.969 0.548 D 0.701 0.523 P 0.164 0.176 U 1 0.090 P 2.195 0.620 M 3.53 0.049 T -3.83 0.721 D 0.084 0.078 -1.077 0.080 T 0.000 0.000 T . . . 3.315 0.457 22.9 0.994 0.634 0.049 0.105 N c -0.264 -0.481 0.000 0.029 0.487 0.133 0 -0.011 0.133 0.396 0.204 0.677 0.295 0.000 0.063 0.688 0.307 7.072 0.242 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7743 0.7758 0.7728 0.7069 0.8641 0.7992 0.7394 0.7547 0.8589 0.7683 0.7803 0.7625 0.6755 0.8575 0.8027 0.7453 0.7786 hom 8662.65 250 1 248487638 . A G 8662.65 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6918;MQ=58.44;MQ0=0;QD=34.65;VQSLOD=9.1714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8662,683,0 1 248487768 248487768 A G exonic OR2M7 nonsynonymous SNV OR2M7:NM_001004691:exon1:c.T103C:p.F35L 0.8 0.77 0.77 0.86 0.71 0.9 0.7757 0.7746 0.7769 0.8610 0.8015 0.7402 0.7952 0.8629 0.76 0.78 0.75 0.65 0.76 rs7555424 . . . . . . . . . . . . . 0.012 0.546 D 0.85 0.449 P 0.291 0.390 B 0.085 0.207 U 1.000 0.182 P 2.29 0.655 M 3.67 0.042 T -3.15 0.641 D 0.074 0.064 -1.110 0.031 T 0.000 0.000 T . . . 3.700 0.502 23.3 0.989 0.478 0.885 0.481 D c -0.150 -0.317 0.005 0.109 0.487 0.133 0 1.55 0.222 5.609 0.671 0.677 0.295 0.521 0.269 0.033 0.150 8.684 0.332 . . . 0.7743 0.7758 0.7727 0.7069 0.8644 0.7991 0.7394 0.7545 0.8589 0.7686 0.7806 0.7620 0.6755 0.8584 0.8029 0.7458 0.7765 hom 8601.04 249 1 248487768 . A G 8601.04 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.11;MQ0=0;QD=34.54;VQSLOD=8.6936;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,248:249:99:8600,671,0 1 248512498 248512498 A G exonic OR14C36 nonsynonymous SNV OR14C36:NM_001001918:exon1:c.A422G:p.Q141R 0.25 0.092 0.26 0.43 0.19 0.35 0.2321 0.1082 0.3073 0.4304 0.2206 0.1886 0.2236 0.3356 0.16 0.11 0.19 0.14 0.19 rs28448343 . . . . . . . . . . . . . 0.122 0.276 T 0.988 0.604 D 0.93 0.647 D 0.300 0.146 N 1 0.090 P 1.59 0.404 L 8.74 0.001 T -1.84 0.431 N 0.056 0.039 -1.060 0.118 T 0.000 0.000 T . . . -0.336 0.066 0.550 0.979 0.363 0.014 0.046 N c -0.699 -0.912 0.000 0.012 0.500 0.196 0 -1.39 0.085 -1.722 0.020 -0.127 0.111 0.000 0.063 0.004 0.083 1.395 0.021 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2361 0.1002 0.3023 0.1705 0.4346 0.2204 0.1876 0.2143 0.3321 0.1949 0.1037 0.2625 0.1788 0.4637 0.2235 0.2063 0.2362 hom 5125.69 169 1 248512498 . A G 5125.69 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8410;MQ=59.15;MQ0=0;QD=30.33;VQSLOD=8.7637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5124,427,0 1 248525328 248525328 - TA exonic OR2T4 frameshift insertion OR2T4:NM_001004696:exon1:c.446_447insTA:p.M150Tfs*19 0.27 0.23 0.26 0.38 0.18 0.32 0.2099 0.2205 0.2891 0.3659 0.1945 0.1554 0.1905 0.2948 . . . . 0.11 rs61248663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2153 0.2167 0.2834 0.1331 0.4116 0.1939 0.1552 0.1886 0.3000 0.2134 0.2375 0.2662 0.1490 0.4391 0.2037 0.1760 0.2118 hom 11052.39 195 1 248525328 . C CTA 11052.39 Mask AC=2;AF=1.00;AN=2;DP=195;FS=0.000;HRun=0;HaplotypeScore=1662.7607;MQ=35.14;MQ0=1;QD=47.03;set=variant2 GT:AD:DP:GQ:PL 1/1:8,223:195:99:11052,575,0 1 248525780 248525780 C T exonic OR2T4 nonsynonymous SNV OR2T4:NM_001004696:exon1:c.C898T:p.P300S 0.29 0.24 0.27 0.43 0.18 0.36 0.2271 0.2372 0.3163 0.4266 0.2056 0.1612 0.2015 0.3304 0.19 0.24 0.16 0.13 0.2 rs28698997 COSM3751110 1(large_intestine) . . . . . . . . . . . 0.068 0.357 T 0.34 0.317 B 0.279 0.385 B 0.048 0.233 N 1 0.090 P 1.045 0.269 L 8.6 0.002 T -4.74 0.801 D 0.087 0.083 -1.106 0.034 T 0.000 0.000 T . . . 3.256 0.450 22.8 0.977 0.349 0.018 0.055 N c -0.467 -0.497 0.000 0.012 0.487 0.133 0 0.732 0.174 -1.573 0.022 0.617 0.288 0.000 0.063 0.956 0.434 4.711 0.122 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000177174.1 Nerve_Tibial 0.2297 0.2312 0.3099 0.1435 0.4341 0.2033 0.1612 0.1999 0.3274 0.2177 0.2408 0.2686 0.1523 0.4497 0.2042 0.1809 0.2200 hom 6539.92 213 1 248525780 . C T 6539.92 Mask AC=2;AF=1.00;AN=2;DP=213;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8730;MQ=53.06;MQ0=0;QD=30.70;VQSLOD=3.4471;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,213:213:99:6539,527,0 1 248550970 248550970 A G exonic OR2T6 nonsynonymous SNV OR2T6:NM_001005471:exon1:c.A61G:p.N21D 0.38 0.52 0.32 0.44 0.18 0.37 0.2454 0.4631 0.3406 0.4300 0.2040 0.1522 0.2086 0.3413 0.25 0.45 0.15 0.27 0.21 rs7417616 COSM3751111 1(large_intestine) . . . . . . . . . . . 0.04 0.421 D 0.0 0.026 B 0.0 0.013 B 0.265 0.037 N 1 0.090 P 0.955 0.240 L 4.09 0.030 T -0.89 0.240 N 0.018 0.003 -0.953 0.405 T 0.000 0.000 T . . . 0.033 0.097 2.911 0.925 0.213 0.011 0.039 N c -1.743 -1.829 0.000 0.067 0.487 0.133 0 -6.15 0.019 -3.460 0.005 -0.967 0.023 0.000 0.063 0.004 0.083 4.025 0.091 . . . 0.2434 0.4638 0.3309 0.1265 0.4411 0.2010 0.1517 0.2075 0.3336 0.2763 0.4641 0.2859 0.1167 0.4544 0.2026 0.1716 0.2261 hom 3347.49 115 1 248550970 . A G 3347.49 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.648;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9074;MQ=58.24;MQ0=0;MQRankSum=-0.979;QD=29.11;ReadPosRankSum=0.437;VQSLOD=8.0446;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,114:115:99:3310,240,0 1 248550976 248550976 T G exonic OR2T6 nonsynonymous SNV OR2T6:NM_001005471:exon1:c.T67G:p.C23G 0.77 0.87 0.74 0.75 0.66 0.81 0.7212 0.8561 0.7185 0.7115 0.6861 0.6945 0.7152 0.7658 0.75 0.85 0.7 0.73 0.69 rs6587467 . . . . . . . . . . . . . 0.328 0.132 T 0.0 0.026 B 0.0 0.013 B 0.041 0.019 N 1 0.090 P -0.345 0.033 N 4.09 0.030 T -0.13 0.090 N 0.054 0.036 -1.034 0.193 T 0.000 0.000 T . . . -1.077 0.029 0.011 0.466 0.037 0.003 0.015 N c -1.511 -1.486 0.000 0.012 0.487 0.133 0 -2.04 0.069 -1.484 0.024 -0.409 0.061 0.000 0.063 0.000 0.016 4.591 0.116 . . . 0.7154 0.8557 0.7123 0.6587 0.7177 0.6852 0.6962 0.7094 0.7585 0.7431 0.8570 0.7115 0.6267 0.7247 0.6832 0.7002 0.6949 hom 3491.17 109 1 248550976 . T G 3491.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.898;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9074;MQ=58.38;MQ0=0;MQRankSum=0.481;QD=32.03;ReadPosRankSum=0.064;VQSLOD=9.2863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,107:109:99:3424,231,0 1 248551203 248551203 T C exonic OR2T6 synonymous SNV OR2T6:NM_001005471:exon1:c.T294C:p.T98T 0.37 0.5 0.31 0.44 0.18 0.37 0.2432 0.4416 0.3401 0.4305 0.2037 0.1527 0.2096 0.3512 0.25 0.43 0.15 0.2 0.22 rs6700947 COSM3751112 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2419 0.4407 0.3287 0.1267 0.4410 0.2001 0.1512 0.2061 0.3307 0.2701 0.4432 0.2864 0.1159 0.4581 0.2022 0.1710 0.2249 hom 5115.16 164 1 248551203 . T C 5115.16 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8174;MQ=59.23;MQ0=0;QD=31.19;VQSLOD=8.5720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5114,415,0 1 248551560 248551560 C T exonic OR2T6 synonymous SNV OR2T6:NM_001005471:exon1:c.C651T:p.S217S 0.29 0.22 0.29 0.44 0.17 0.37 0.2224 0.2229 0.3285 0.4309 0.2037 0.1513 0.1938 0.3355 0.17 0.22 0.15 0.15 0.2 rs954474 COSM3751113 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2255 0.2173 0.3184 0.1265 0.4410 0.2012 0.1508 0.1960 0.3326 0.2117 0.2344 0.2778 0.1167 0.4615 0.2025 0.1722 0.2152 hom 6116.55 188 1 248551560 . C T 6116.55 Mask AC=2;AF=1.00;AN=2;DP=188;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.98;MQ0=0;QD=32.53;VQSLOD=9.9721;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,188:188:99:6116,472,0 1 248551636 248551636 T G exonic OR2T6 nonsynonymous SNV OR2T6:NM_001005471:exon1:c.T727G:p.S243A 0.37 0.5 0.31 0.44 0.18 0.37 0.2429 0.4413 0.3397 0.4311 0.2037 0.1520 0.2080 0.3376 0.25 0.44 0.15 0.25 0.22 rs954475 COSM3751114 1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 1.0 0.971 D 0.002 0.370 N 1.000 0.198 P 2.355 0.679 M 1.11 0.389 T -2.89 0.606 D 0.105 0.111 -0.926 0.447 T 0.000 0.000 T . . . 3.158 0.439 22.6 0.992 0.563 0.151 0.185 N c 0.005 -0.223 0.000 0.012 0.487 0.133 0 2.85 0.322 0.248 0.178 -0.012 0.132 0.011 0.184 0.003 0.074 6.292 0.201 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2417 0.4412 0.3293 0.1263 0.4411 0.2011 0.1515 0.2066 0.3329 0.2702 0.4434 0.2864 0.1159 0.4539 0.2021 0.1711 0.2267 hom 6209.13 183 1 248551636 . T G 6209.13 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.16;MQ0=0;QD=33.93;VQSLOD=9.2542;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:6209,476,0 1 248685253 248685253 T C exonic OR2G6 synonymous SNV OR2G6:NM_001013355:exon1:c.T306C:p.Y102Y 0.95 0.82 0.99 1. 1. 1. 0.9857 0.8447 0.9917 1 1 0.9997 0.9934 0.9999 0.95 0.85 1. 0.9 1. rs9727474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9890 0.8453 0.9923 1 1 1 0.9996 0.9934 0.9998 0.9566 0.8479 0.9916 1 1 1 0.9997 0.9929 hom 4804.39 156 1 248685253 . T C 4804.39 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.85;MQ0=0;QD=30.80;VQSLOD=8.4873;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4803,397,0 1 248789504 248789504 T C exonic OR2T11 nonsynonymous SNV OR2T11:NM_001001964:exon1:c.A926G:p.Q309R 0.96 0.86 0.98 1. 0.99 0.99 0.9805 0.8568 0.9915 0.9994 0.9995 0.9909 0.9921 0.9856 0.95 0.86 0.99 0.89 0.9 rs1892442 . . . . . . . . . . . . . 0.404 0.103 T 0.0 0.026 B 0.002 0.063 B 0.169 0.174 N 1.000 0.090 P 0.505 0.135 N 1.3 0.356 T -0.66 0.191 N 0.063 0.051 -1.035 0.188 T 0.000 0.000 T . . . -0.472 0.057 0.258 0.670 0.080 0.051 0.108 N c -1.289 -1.303 0.000 0.029 0.487 0.133 0 1.7 0.232 0.467 0.216 -0.370 0.067 0.059 0.215 0.003 0.074 7.729 0.278 . . . 0.9829 0.8546 0.9906 0.9758 0.9996 0.9993 0.9912 0.9857 0.9849 0.9592 0.8625 0.9903 0.9765 1 0.9982 0.9920 0.9884 hom 5233.20 165 1 248789504 . T C 5233.20 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7480;MQ=59.72;MQ0=0;QD=31.72;VQSLOD=8.5325;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:5233,406,0 1 248790075 248790075 A G exonic OR2T11 nonsynonymous SNV OR2T11:NM_001001964:exon1:c.T355C:p.C119R 0.91 0.7 0.97 1. 0.99 0.99 0.9688 0.7161 0.9868 1 0.9995 0.9908 0.9887 0.9854 0.9 0.72 0.99 0.84 0.9 rs1892443 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.443 N 0.531 0.315 P -2.18 0.001 N 3.55 0.048 T 7.12 0.000 N 0.016 0.003 -1.022 0.231 T 0.000 0.000 T . . . -1.381 0.020 0.003 0.179 0.005 0.025 0.069 N c -1.314 -1.058 0.000 0.050 0.487 0.133 0 2.4 0.284 0.495 0.220 -0.025 0.128 0.998 0.411 0.037 0.154 4.735 0.123 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9735 0.7061 0.9850 0.9761 1 0.9993 0.9909 0.9802 0.9862 0.9217 0.7154 0.9818 0.9765 1 0.9979 0.9924 0.9881 hom 3947.69 126 1 248790075 . A G 3947.69 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2451;MQ=59.34;MQ0=0;QD=31.33;VQSLOD=8.5960;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3947,328,0 1 248814080 248814080 A C exonic OR2T27 nonsynonymous SNV OR2T27:NM_001001824:exon1:c.T106G:p.L36V 0.94 0.81 0.98 1. 1. 1. 0.9839 0.8401 0.9919 1 1 0.9972 0.9879 0.9996 . . . 0.41 0.98 rs1782242 COSM4591629 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.289 0.150 T 0.0 0.026 B 0.004 0.093 B 0.214 0.163 N 1 0.090 P . . . 2.32 0.166 T -1.09 0.283 N 0.137 0.159 -1.066 0.104 T 0.000 0.000 T . . . -2.060 0.007 0.001 0.603 0.063 0.001 0.008 N c -1.437 -1.542 0.000 0.029 0.487 0.133 0 -2.51 0.060 -3.448 0.005 -0.133 0.110 0.000 0.063 0.418 0.257 1.217 0.018 . . . 0.9869 0.8397 0.9920 0.9702 1 1 0.9988 0.9870 0.9995 0.9551 0.8466 0.9890 0.9733 1 1 0.9992 0.9947 hom 4377.48 131 1 248814080 . A C 4377.48 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=44.78;MQ0=2;QD=33.42;VQSLOD=4.0295;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4377,346,0 1 248814126 248814126 G A exonic OR2T27 synonymous SNV OR2T27:NM_001001824:exon1:c.C60T:p.N20N . . . . . . 0.5751 0.5533 0.6445 0.8414 0.5676 0.5227 0.5784 0.6140 . . . 0.16 0.57 rs28418327 COSM4594866 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5809 0.5551 0.6365 0.5265 0.8458 0.5667 0.5256 0.5496 0.6132 0.5913 0.5737 0.6401 0.5468 0.9040 0.5796 0.5681 0.5817 hom 4277.22 145 1 248814126 . G A 4277.22 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9325;MQ=46.25;MQ0=5;QD=29.50;VQSLOD=2.9170;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4276,349,0 1 248845097 248845097 C T exonic OR14I1 nonsynonymous SNV OR14I1:NM_001004734:exon1:c.G509A:p.S170N 0.75 0.43 0.87 0.87 0.88 0.86 0.8262 0.4875 0.8212 0.8296 0.8255 0.8726 0.8392 0.8530 0.75 0.5 0.88 0.69 0.83 rs2000390 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.114 0.193 N 1 0.090 P -2.295 0.001 N 9.04 0.000 T 3.51 0.001 N 0.006 0.000 -0.905 0.474 T 0.000 0.000 T . . . -1.800 0.011 0.002 0.131 0.002 0.000 0.003 N c -2.000 -1.927 0.000 0.029 0.487 0.133 0 -3.92 0.039 -0.654 0.054 -1.773 0.007 0.000 0.063 0.000 0.016 7.168 0.247 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000229255.1|ENSG00000189181.3 Cells_EBV-transformed_lymphocytes|Testis 0.8317 0.4758 0.8262 0.8551 0.8287 0.8192 0.8755 0.8629 0.8529 0.7551 0.4859 0.8461 0.8709 0.8259 0.8220 0.8747 0.8469 hom 2755.56 81 1 248845097 . C T 2755.56 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=34.02;VQSLOD=9.6045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2789,226,0 1 248845411 248845411 G A exonic OR14I1 synonymous SNV OR14I1:NM_001004734:exon1:c.C195T:p.S65S 0.77 0.5 0.88 0.87 0.88 0.85 0.8321 0.5558 0.8242 0.8307 0.8255 0.8730 0.8422 0.8493 0.77 0.56 0.88 0.72 0.84 rs11485825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8366 0.5463 0.8297 0.8579 0.8288 0.8196 0.8760 0.8661 0.8495 0.7756 0.5560 0.8520 0.8709 0.8249 0.8220 0.8754 0.8523 hom 4146.78 123 1 248845411 . G A 4146.78 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.47;MQ0=0;QD=33.71;VQSLOD=9.6099;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4146,325,0 1 248845458 248845458 C T exonic OR14I1 nonsynonymous SNV OR14I1:NM_001004734:exon1:c.G148A:p.D50N 0.75 0.4 0.87 0.87 0.89 0.86 0.8264 0.4504 0.8196 0.8304 0.8258 0.8770 0.8403 0.8612 0.74 0.46 0.88 0.65 0.84 rs4509608 . . . . . . . . . . . . . 0.071 0.351 T 0.975 0.561 D 0.624 0.497 P 0.042 0.239 N 1 0.090 P 2.16 0.606 M 5.55 0.009 T -4.2 0.757 D 0.028 0.009 -1.059 0.119 T 0.000 0.000 T . . . 3.907 0.526 23.5 0.996 0.727 0.004 0.019 N c -0.338 -0.607 0.000 0.012 0.554 0.283 0 1.19 0.200 -1.043 0.036 0.583 0.286 0.000 0.063 0.002 0.062 5.433 0.157 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000229255.1|ENSG00000189181.3 Cells_EBV-transformed_lymphocytes|Testis 0.8327 0.4362 0.8252 0.8770 0.8289 0.8201 0.8793 0.8653 0.8602 0.7458 0.4476 0.8433 0.8907 0.8269 0.8225 0.8770 0.8523 hom 4825.74 151 1 248845458 . C T 4825.74 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.69;MQ0=0;QD=31.96;VQSLOD=8.3844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:4825,373,0 1 248845471 248845471 T C exonic OR14I1 synonymous SNV OR14I1:NM_001004734:exon1:c.A135G:p.A45A 0.87 0.55 0.95 1. 1. 1. 0.9610 0.6009 0.9793 1 0.9992 0.9955 0.9714 0.9992 0.86 0.61 0.99 0.81 0.98 rs4575113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9683 0.5900 0.9787 0.9729 1 0.9988 0.9967 0.9759 0.9987 0.8856 0.6041 0.9749 0.9768 1 0.9994 0.9965 0.9857 hom 4302.36 140 1 248845471 . T C 4302.36 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5777;MQ=59.84;MQ0=0;QD=30.73;VQSLOD=8.2854;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:140:99:4301,358,0 1 248845499 248845499 A G exonic OR14I1 nonsynonymous SNV OR14I1:NM_001004734:exon1:c.T107C:p.V36A 0.91 0.67 0.97 1. 1. 1. 0.9721 0.7141 0.9850 0.9999 1 0.9969 0.9813 0.9993 0.9 0.72 1. 0.8 0.98 rs4462184 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.010 0.302 N 1 0.090 P -1.615 0.004 N 6.44 0.006 T 3.34 0.001 N 0.024 0.008 -1.056 0.127 T 0.000 0.000 T . . . -1.892 0.009 0.002 0.129 0.002 0.000 0.003 N c -1.659 -1.555 0.000 0.012 0.554 0.283 0 1.38 0.212 0.396 0.204 -0.136 0.110 0.000 0.063 0.002 0.062 5.015 0.136 . ENSG00000229703.2 Testis 0.9773 0.7078 0.9844 0.9731 1 1 0.9981 0.9821 0.9990 0.9190 0.7179 0.9833 0.9768 1 1 0.9987 0.9898 hom 3940.44 129 1 248845499 . A G 3940.44 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=30.55;VQSLOD=8.6345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3940,316,0 2 1079320 1079320 C T exonic SNTG2 synonymous SNV SNTG2:NM_018968:exon2:c.C189T:p.G63G 0.67 0.56 0.78 0.68 0.8 0.58 0.7349 0.5875 0.8043 0.6906 0.8049 0.7751 0.7444 0.6058 0.73 0.61 0.78 0.59 . rs4971432 COSM4132951 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7423 0.5867 0.8084 0.7483 0.6871 0.8032 0.7762 0.7532 0.6076 0.7256 0.6059 0.8031 0.7649 0.6654 0.8190 0.7733 0.7485 hom 5359.39 172 2 1079320 . C T 5359.39 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6498;MQ=59.11;MQ0=0;QD=31.16;VQSLOD=9.5591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5359,430,0 2 1271230 1271230 A G exonic SNTG2 nonsynonymous SNV SNTG2:NM_018968:exon14:c.A1171G:p.I391V 0.36 0.5 0.23 0.32 0.25 0.41 0.2848 0.4809 0.1746 0.3394 0.1751 0.2508 0.2671 0.3949 0.3 0.44 0.24 0.38 . rs13023962 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.001 0.409 N 0.999 0.220 P -1.065 0.010 N 1.34 0.686 T 0.21 0.048 N 0.024 0.007 -0.967 0.379 T 0.000 0.000 T . . . -1.631 0.014 0.002 0.174 0.005 0.049 0.105 N c -1.420 -1.261 0.000 0.054 0.615 0.372 0 1.67 0.230 1.942 0.396 -0.326 0.075 1.000 0.715 0.090 0.185 5.308 0.150 PH domain-like;PH domain-like|Pleckstrin homology domain ENSG00000172554.7 Testis 0.2629 0.4707 0.1694 0.2973 0.3339 0.1596 0.2392 0.2539 0.3743 0.2991 0.4693 0.1850 0.3245 0.3244 0.1637 0.2393 0.2332 het 408.34 32 2 1271230 . A G 408.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.625;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=0.340;QD=12.76;ReadPosRankSum=-0.415;VQSLOD=5.9899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,17:32:99:438,0,409 2 1418192 1418192 C G exonic TPO synonymous SNV TPO:NM_175721:exon1:c.C12G:p.L4L,TPO:NM_175722:exon1:c.C12G:p.L4L,TPO:NM_000547:exon2:c.C12G:p.L4L,TPO:NM_001206744:exon2:c.C12G:p.L4L,TPO:NM_001206745:exon2:c.C12G:p.L4L,TPO:NM_175719:exon2:c.C12G:p.L4L 0.31 0.28 0.37 0.24 0.39 0.32 0.3691 0.3004 0.4110 0.2012 0.4222 0.3928 0.3690 0.3548 0.36 0.29 0.39 0.26 0.43 rs9678281 COSM5034324;COSM1399678;COSM5034323 1(skin) Benign|Likely benign\x2cUncertain significance not_specified|Congenital_hypothyroidism\x2cCongenital_hypothyroidism RCV000247664.1|RCV000327723.1\x2cRCV000377691.1 MedGen|MedGen:Orphanet:SNOMED_CT\x2cMedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003\x2cC0010308:ORPHA442:190268003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3662 0.2907 0.4121 0.3381 0.2058 0.4147 0.3869 0.3731 0.3416 0.3615 0.2910 0.4017 0.3212 0.1860 0.4321 0.4026 0.3763 het 677.82 54 2 1418192 . C G 677.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.093;DP=54;Dels=0.00;FS=4.058;HRun=1;HaplotypeScore=0.9933;MQ=58.76;MQ0=0;MQRankSum=-0.572;QD=12.55;ReadPosRankSum=0.260;VQSLOD=5.6046;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,29:54:99:708,0,626 2 1460004 1460004 G T exonic TPO nonsynonymous SNV TPO:NM_175721:exon6:c.G769T:p.A257S,TPO:NM_175722:exon6:c.G769T:p.A257S,TPO:NM_000547:exon7:c.G769T:p.A257S,TPO:NM_001206744:exon7:c.G769T:p.A257S,TPO:NM_001206745:exon7:c.G769T:p.A257S,TPO:NM_175719:exon7:c.G769T:p.A257S 0.37 0.39 0.37 0.18 0.37 0.52 0.3791 0.3740 0.3844 0.1798 0.4307 0.3717 0.4172 0.4907 0.38 0.38 0.38 0.36 0.43 rs4927611 . . Benign|Likely benign not_specified|Congenital_hypothyroidism RCV000248792.1|RCV000285484.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 0.052 0.408 T 0.716 0.403 P 0.407 0.429 B 0.667 0.060 N 1 0.090 P 1.705 0.444 L -0.72 0.730 T -1.56 0.377 N 0.048 0.036 -1.037 0.183 T 0.000 0.000 T . . . 0.402 0.133 6.632 0.965 0.296 0.103 0.157 N c -0.720 -0.813 0.000 0.029 0.554 0.283 0 0.493 0.160 0.754 0.259 1.048 0.713 0.001 0.137 0.004 0.083 9.784 0.396 . ENSG00000115705.16 Nerve_Tibial 0.3824 0.3721 0.3837 0.3969 0.1825 0.4281 0.3746 0.3727 0.4908 0.3692 0.3601 0.3842 0.3742 0.1741 0.4227 0.3787 0.4216 hom 2896.58 99 2 1460004 . G T 2896.58 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.15;MQ0=0;QD=29.26;VQSLOD=8.5243;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,98:99:99:2930,238,0 2 1497803 1497803 C T exonic TPO synonymous SNV TPO:NM_175722:exon9:c.C1479T:p.D493D,TPO:NM_001206745:exon10:c.C1827T:p.D609D,TPO:NM_175719:exon10:c.C1827T:p.D609D,TPO:NM_175721:exon10:c.C1998T:p.D666D,TPO:NM_000547:exon11:c.C1998T:p.D666D,TPO:NM_001206744:exon11:c.C1998T:p.D666D 0.36 0.31 0.37 0.41 0.37 0.35 0.3630 0.3209 0.3852 0.4090 0.3839 0.3555 0.3709 0.3715 0.35 0.32 0.37 0.4 0.43 rs1126797 COSM3757660;COSM3757661 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign not_specified|Congenital_hypothyroidism RCV000252817.1|RCV000358553.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3683 0.3229 0.3874 0.3498 0.4140 0.3723 0.3604 0.3582 0.3781 0.3578 0.3267 0.4099 0.35 0.4084 0.3817 0.3611 0.3717 het 1235.63 130 2 1497803 . C T 1235.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.835;DP=130;Dels=0.00;FS=1.448;HRun=0;HaplotypeScore=4.6596;MQ=59.50;MQ0=0;MQRankSum=-1.043;QD=9.50;ReadPosRankSum=0.494;VQSLOD=5.1097;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,51:130:99:1266,0,2029 2 1499899 1499899 C T exonic TPO synonymous SNV TPO:NM_175722:exon10:c.C1626T:p.P542P,TPO:NM_001206745:exon11:c.C1974T:p.P658P,TPO:NM_175719:exon11:c.C1974T:p.P658P,TPO:NM_175721:exon11:c.C2145T:p.P715P,TPO:NM_000547:exon12:c.C2145T:p.P715P,TPO:NM_001206744:exon12:c.C2145T:p.P715P 0.44 0.43 0.43 0.41 0.4 0.52 0.4109 0.4323 0.4345 0.4035 0.4194 0.3810 0.4292 0.5012 0.41 0.44 0.4 0.46 0.44 rs732608 COSM3757666;COSM1685440 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(skin);1(prostate);1(thyroid);1(large_intestine) Benign|Likely benign not_specified|Congenital_hypothyroidism RCV000246542.1|RCV000269620.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4162 0.4374 0.4383 0.3642 0.4122 0.4141 0.3884 0.3959 0.5060 0.4108 0.4406 0.4570 0.3567 0.4094 0.4129 0.3905 0.4265 het 1204.63 109 2 1499899 . C T 1204.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.123;DP=109;Dels=0.00;FS=2.573;HRun=0;HaplotypeScore=1.6553;MQ=59.31;MQ0=0;MQRankSum=0.077;QD=11.05;ReadPosRankSum=0.409;VQSLOD=6.4750;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,45:109:99:1235,0,1566 2 1499927 1499927 A C exonic TPO nonsynonymous SNV TPO:NM_175722:exon10:c.A1654C:p.T552P,TPO:NM_001206745:exon11:c.A2002C:p.T668P,TPO:NM_175719:exon11:c.A2002C:p.T668P,TPO:NM_175721:exon11:c.A2173C:p.T725P,TPO:NM_000547:exon12:c.A2173C:p.T725P,TPO:NM_001206744:exon12:c.A2173C:p.T725P 0.5 0.65 0.44 0.41 0.4 0.53 0.4280 0.6047 0.4451 0.4065 0.4208 0.3824 0.4403 0.5024 0.47 0.61 0.4 0.52 0.45 rs732609 COSM3812428;COSM3812429 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(prostate);1(thyroid) Benign|Likely benign not_specified|Congenital_hypothyroidism RCV000251285.1|RCV000334090.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.985 0.248 P -2.245 0.001 N -0.5 0.705 T 5.98 0.000 N 0.079 0.466 -0.913 0.465 T 0.000 0.000 T . . . -0.669 0.046 0.085 0.123 0.002 0.028 0.074 N c -1.249 -1.015 1.000 0.747 0.581 0.326 0 4.39 0.520 2.923 0.483 0.014 0.141 0.901 0.312 0.004 0.083 11.196 0.478 . ENSG00000115705.16|ENSG00000115705.16 Muscle_Skeletal|Nerve_Tibial 0.4291 0.6070 0.4476 0.3645 0.4141 0.4146 0.3897 0.4018 0.5074 0.4556 0.5973 0.4690 0.3609 0.4089 0.4129 0.3908 0.4337 het 1102.09 101 2 1499927 . A C 1102.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.566;DP=101;Dels=0.00;FS=0.785;HRun=1;HaplotypeScore=4.8497;MQ=59.63;MQ0=0;MQRankSum=0.874;QD=10.91;ReadPosRankSum=-2.407;VQSLOD=4.5593;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,41:101:99:1132,0,1509 2 1520676 1520676 T C exonic TPO nonsynonymous SNV TPO:NM_175721:exon13:c.T2408C:p.V803A,TPO:NM_175722:exon13:c.T2021C:p.V674A,TPO:NM_001206745:exon14:c.T2369C:p.V790A,TPO:NM_175719:exon14:c.T2369C:p.V790A,TPO:NM_000547:exon15:c.T2540C:p.V847A,TPO:NM_001206744:exon15:c.T2540C:p.V847A 0.66 0.83 0.6 0.58 0.54 0.69 0.5898 0.7841 0.6230 0.5873 0.6148 0.5357 0.5785 0.6538 0.61 0.77 0.53 0.62 0.51 rs1126799 COSM3927753;COSM148793 1(stomach);6(prostate) Benign|Benign not_specified|Congenital_hypothyroidism RCV000253477.1|RCV000333699.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.991 0.079 N 1 0.090 P -1.585 0.004 N -0.12 0.646 T 1.73 0.007 N 0.03 0.530 -1.008 0.275 T 0.000 0.000 T . . . -0.976 0.033 0.018 0.187 0.006 0.001 0.007 N c -0.792 -0.740 1.000 0.423 0.554 0.246 0 4.6 0.564 0.630 0.241 0.015 0.141 0.209 0.242 0.002 0.062 8.858 0.342 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain;Sushi/SCR/CCP domain . . 0.5876 0.7849 0.6227 0.4811 0.5895 0.6092 0.5372 0.5495 0.6583 0.6240 0.7735 0.6172 0.4570 0.6014 0.6122 0.5470 0.6068 het 985.74 114 2 1520676 . T C 985.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.244;DP=114;Dels=0.00;FS=2.565;HRun=0;HaplotypeScore=0.8941;MQ=58.92;MQ0=0;MQRankSum=0.717;QD=8.65;ReadPosRankSum=-0.415;VQSLOD=6.2735;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,44:114:99:1016,0,1714 2 1647171 1647171 T C exonic PXDN synonymous SNV PXDN:NM_012293:exon19:c.A3921G:p.V1307V 0.91 0.77 0.96 1. 0.89 0.98 0.9088 0.7885 0.9584 0.9999 0.8878 0.8925 0.9165 0.9717 0.86 0.8 0.89 0.89 . rs6730800 . . Benign not_specified RCV000251142.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9120 0.7884 0.9532 0.8943 0.9999 0.8865 0.8933 0.9092 0.9718 0.8711 0.7995 0.9439 0.9040 0.9994 0.8869 0.8908 0.8666 hom 3536.01 112 2 1647171 . T C 3536.01 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7153;MQ=57.97;MQ0=0;QD=31.57;VQSLOD=8.1977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3536,274,0 2 1652822 1652822 T G exonic PXDN synonymous SNV PXDN:NM_012293:exon17:c.A2730C:p.I910I 0.94 0.87 0.96 1. 0.89 0.98 0.9176 0.8786 0.9621 0.9996 0.8879 0.8930 0.9241 0.9711 0.9 0.9 0.9 0.94 . rs1863135 . . Benign not_specified RCV000253320.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9188 0.8774 0.9575 0.8939 0.9993 0.8877 0.8938 0.9138 0.9706 0.8936 0.8769 0.9498 0.9040 0.9988 0.8880 0.8914 0.8704 hom 1435.63 51 2 1652822 . T G 1435.63 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7783;MQ=58.68;MQ0=0;QD=28.15;VQSLOD=8.0444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:51:99:1469,126,0 2 1664654 1664654 A G exonic PXDN synonymous SNV PXDN:NM_012293:exon14:c.T1836C:p.N612N 0.81 0.73 0.82 0.98 0.69 0.87 0.7560 0.7298 0.8543 0.9799 0.6791 0.6960 0.7573 0.8592 0.71 0.74 0.7 0.78 . rs17841813 . . Benign not_specified RCV000251977.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7556 0.7242 0.8382 0.6918 0.9821 0.6816 0.6942 0.7257 0.8551 0.7230 0.7259 0.8050 0.6921 0.9814 0.6784 0.7009 0.7086 het 1549.25 106 2 1664654 . A G 1549.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.165;DP=106;Dels=0.00;FS=0.750;HRun=0;HaplotypeScore=2.2771;MQ=60.00;MQ0=0;MQRankSum=-0.322;QD=14.62;ReadPosRankSum=-0.354;VQSLOD=6.3603;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,60:106:99:1579,0,1143 2 1842968 1842968 T C exonic MYT1L synonymous SNV MYT1L:NM_001303052:exon21:c.A3033G:p.G1011G,MYT1L:NM_001329845:exon21:c.A3033G:p.G1011G,MYT1L:NM_001329846:exon21:c.A3027G:p.G1009G,MYT1L:NM_001329847:exon21:c.A3027G:p.G1009G,MYT1L:NM_001329848:exon21:c.A3027G:p.G1009G,MYT1L:NM_001329849:exon21:c.A3027G:p.G1009G,MYT1L:NM_001329851:exon21:c.A3033G:p.G1011G,MYT1L:NM_001329852:exon21:c.A3027G:p.G1009G,MYT1L:NM_015025:exon21:c.A3027G:p.G1009G,MYT1L:NM_001329844:exon22:c.A3033G:p.G1011G 0.46 0.56 0.31 0.66 0.31 0.36 0.3670 0.5177 0.3086 0.6561 0.3342 0.3248 0.3685 0.3486 0.43 0.62 0.34 0.52 . rs6728368 COSM4133321;COSM4133320 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3592 0.5189 0.3022 0.3350 0.6574 0.3360 0.3204 0.3328 0.3445 0.3963 0.5139 0.2943 0.32 0.6660 0.3245 0.3247 0.3646 het 773.77 60 2 1842968 . T C 773.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.015;DP=60;Dels=0.00;FS=4.861;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.200;QD=12.90;ReadPosRankSum=1.045;VQSLOD=5.7183;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,28:60:99:804,0,817 2 1926437 1926437 G T exonic MYT1L synonymous SNV MYT1L:NM_001303052:exon10:c.C1104A:p.P368P,MYT1L:NM_001329845:exon10:c.C1104A:p.P368P,MYT1L:NM_001329846:exon10:c.C1104A:p.P368P,MYT1L:NM_001329847:exon10:c.C1104A:p.P368P,MYT1L:NM_001329848:exon10:c.C1104A:p.P368P,MYT1L:NM_001329849:exon10:c.C1104A:p.P368P,MYT1L:NM_001329851:exon10:c.C1104A:p.P368P,MYT1L:NM_001329852:exon10:c.C1104A:p.P368P,MYT1L:NM_015025:exon10:c.C1104A:p.P368P,MYT1L:NM_001329844:exon11:c.C1104A:p.P368P 0.99 1. 0.98 1. 0.98 0.99 0.9802 0.9961 0.9773 1 0.9915 0.9707 0.9788 0.9965 0.98 0.99 0.97 0.98 . rs1529667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9794 0.9961 0.9791 0.9578 1 0.9898 0.9692 0.9737 0.9971 0.9803 0.9940 0.9749 0.9470 1 0.9885 0.9689 0.9857 hom 1925.33 55 2 1926437 . G T 1925.33 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=60.00;MQ0=0;QD=35.01;VQSLOD=8.7464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1958,153,0 2 3392075 3392075 T C exonic TRAPPC12 synonymous SNV TRAPPC12:NM_001321102:exon2:c.T681C:p.F227F,TRAPPC12:NM_016030:exon2:c.T681C:p.F227F 0.65 0.73 0.5 0.68 0.62 0.67 0.6030 0.7053 0.4531 0.7159 0.6207 0.5847 0.6227 0.6518 0.62 0.7 0.58 0.38 0.64 rs10865541 COSM442850 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5959 0.6999 0.4609 0.6252 0.7147 0.6158 0.5814 0.6129 0.6537 0.6155 0.7077 0.4768 0.6424 0.7179 0.6036 0.5619 0.6008 hom 2372.04 78 2 3392075 . T C 2372.04 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7066;MQ=57.96;MQ0=0;QD=30.41;VQSLOD=5.0568;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,77:78:99:2405,193,0 2 3392295 3392295 A G exonic TRAPPC12 nonsynonymous SNV TRAPPC12:NM_001321102:exon2:c.A901G:p.S301G,TRAPPC12:NM_016030:exon2:c.A901G:p.S301G 0.47 0.42 0.31 0.61 0.4 0.57 0.4144 0.4368 0.2706 0.6491 0.4010 0.3757 0.4442 0.5339 0.39 0.41 0.37 0.37 0.42 rs11686212 . . . . . . . . . . . . . 0.009 0.574 D 0.996 0.715 D 0.787 0.703 P 0.000 0.843 D 0.000 0.588 P 2.735 0.802 M 0.24 0.596 T -2.18 0.491 N 0.253 0.314 -0.854 0.517 T 0.000 0.000 T . . . 5.866 0.804 27.3 0.999 0.933 0.978 0.770 D c 0.747 0.728 1.000 0.747 0.719 0.830 0 5.07 0.680 6.948 0.756 1.194 0.916 1.000 0.715 0.999 0.750 14.455 0.668 . ENSG00000225234.1|ENSG00000225234.1|ENSG00000225234.1 Adipose_Subcutaneous|Heart_Left_Ventricle|Nerve_Tibial 0.4057 0.4210 0.2745 0.4053 0.6532 0.3925 0.3712 0.4044 0.5336 0.3954 0.4240 0.3014 0.43 0.6402 0.3920 0.3568 0.4092 het 574.16 60 2 3392295 . A G 574.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.754;DP=60;Dels=0.00;FS=1.016;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.640;QD=9.57;ReadPosRankSum=-0.625;VQSLOD=5.7439;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,25:60:99:604,0,862 2 3504687 3504687 A G exonic ADI1 synonymous SNV ADI1:NM_001306077:exon3:c.T300C:p.D100D,ADI1:NM_018269:exon3:c.T318C:p.D106D 0.53 0.89 0.45 0.45 0.39 0.34 0.4086 0.8193 0.4205 0.4316 0.3603 0.3597 0.4327 0.3452 0.51 0.8 0.36 0.58 0.41 rs9950 COSM148794 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4024 0.8236 0.4181 0.4206 0.4307 0.3595 0.3574 0.3960 0.3499 0.4793 0.8174 0.4067 0.4333 0.4278 0.3472 0.3317 0.3602 het 1629.13 133 2 3504687 . A G 1629.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.038;DP=133;Dels=0.00;FS=1.399;HRun=0;HaplotypeScore=4.4072;MQ=59.86;MQ0=0;MQRankSum=-1.079;QD=12.25;ReadPosRankSum=-0.453;VQSLOD=5.2721;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,64:133:99:1659,0,1849 2 3749152 3749154 GAA - exonic ALLC nonframeshift deletion ALLC:NM_018436:exon11:c.901_903del:p.E303del 0.41 0.62 0.3 0.33 0.44 0.27 0.4576 0.6305 0.3104 0.4030 0.4438 0.4894 0.4559 0.3208 0.51 0.61 0.46 0.011 . rs796898978 COSM128720 1(ovary);1(haematopoietic_and_lymphoid_tissue);14(upper_aerodigestive_tract);5(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3908 0.6063 0.2312 0.5187 0.3457 0.3914 0.4333 0.4173 0.2888 0.4539 0.5920 0.2780 0.5232 0.3478 0.4071 0.4070 0.4180 hom 911.50 22 2 3749151 . GGAA G 911.50 Mask AC=2;AF=1.00;AN=2;DP=22;FS=0.000;HRun=0;HaplotypeScore=99.7833;MQ=59.38;MQ0=0;QD=41.43;set=variant2 GT:AD:DP:GQ:PL 1/1:1,21:22:63.21:954,63,0 2 7137067 7137067 A G exonic RNF144A nonsynonymous SNV RNF144A:NM_001349181:exon3:c.A10G:p.T4A,RNF144A:NM_001349182:exon3:c.A10G:p.T4A,RNF144A:NM_001349183:exon3:c.A10G:p.T4A,RNF144A:NM_001349184:exon3:c.A10G:p.T4A,RNF144A:NM_001349185:exon3:c.A10G:p.T4A,RNF144A:NM_014746:exon3:c.A10G:p.T4A 0.84 0.87 0.8 0.78 0.8 0.94 0.8242 0.8611 0.8126 0.8029 0.8600 0.7940 0.8194 0.9285 0.81 0.86 0.79 0.8 0.82 rs364891 COSM5617772 1(breast);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.219 P -0.69 0.019 N 1.45 0.325 T 0.28 0.162 N 0.044 0.062 -0.962 0.388 T 0.000 0.000 T . . . 0.883 0.178 9.965 0.643 0.072 0.192 0.204 N c -0.524 -0.277 1.000 0.747 0.638 0.428 0 4.74 0.596 5.431 0.660 0.138 0.222 1.000 0.715 0.998 0.697 12.779 0.567 . . . 0.8203 0.8600 0.7985 0.7306 0.8100 0.8595 0.7943 0.8090 0.9270 0.8214 0.8577 0.7883 0.7351 0.8045 0.8633 0.7969 0.8067 hom 2824.15 82 2 7137067 . A G 2824.15 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4905;MQ=59.44;MQ0=0;QD=34.44;VQSLOD=9.4283;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2857,223,0 2 7154632 7154632 T C exonic RNF144A synonymous SNV RNF144A:NM_001349181:exon4:c.T183C:p.T61T,RNF144A:NM_001349182:exon4:c.T183C:p.T61T,RNF144A:NM_001349183:exon4:c.T183C:p.T61T,RNF144A:NM_001349184:exon4:c.T183C:p.T61T,RNF144A:NM_001349185:exon4:c.T183C:p.T61T,RNF144A:NM_014746:exon4:c.T183C:p.T61T 1. 1. 1. 1. 1. 1. 0.9995 0.9999 1 0.9934 1 1.0000 0.9989 1 . . . 1. 1. rs309325 COSM4595203 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 1 1 1 0.9934 1 0.9999 0.9998 0.9999 0.9996 1 1 1 0.9932 1 1 1 hom 6512.46 224 2 7154632 . T C 6512.46 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8410;MQ=59.14;MQ0=0;QD=29.07;VQSLOD=7.1923;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:6511,512,0 2 9491017 9491017 C T exonic ASAP2 synonymous SNV ASAP2:NM_001135191:exon12:c.C1104T:p.L368L,ASAP2:NM_003887:exon12:c.C1104T:p.L368L 0.88 0.68 0.96 0.92 1. 0.94 0.9571 0.7249 0.9625 0.9042 0.9998 0.9979 0.9769 0.9441 0.91 0.74 1. 0.84 0.96 rs4669385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9626 0.7234 0.9621 0.9831 0.9065 1.0000 0.9985 0.9800 0.9464 0.9152 0.7266 0.9570 0.9967 0.9020 1 0.9983 0.9796 hom 2174.29 78 2 9491017 . C T 2174.29 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8773;MQ=59.76;MQ0=0;QD=27.88;VQSLOD=7.9336;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2207,175,0 2 9514917 9514917 C T exonic ASAP2 synonymous SNV ASAP2:NM_001135191:exon17:c.C1590T:p.Y530Y,ASAP2:NM_003887:exon17:c.C1590T:p.Y530Y 0.13 0.029 0.15 0.001 0.26 0.26 0.2113 0.0582 0.1021 0.0016 0.2689 0.2604 0.2595 0.2728 0.19 0.069 0.26 0.13 0.23 rs33930824 COSM3758410 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2079 0.0593 0.1106 0.2476 0.0020 0.2631 0.2576 0.2408 0.2642 0.1879 0.0623 0.1160 0.2384 0.0049 0.2483 0.2666 0.2408 hom 5756.98 196 2 9514917 . C T 5756.98 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.437;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6750;MQ=59.16;MQ0=0;MQRankSum=-0.510;QD=29.37;ReadPosRankSum=0.094;VQSLOD=7.9694;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,193:196:99:5711,416,0 2 9634856 9634856 A G exonic ADAM17 synonymous SNV ADAM17:NM_003183:exon15:c.T1824C:p.S608S 0.46 0.72 0.4 0.096 0.58 0.42 0.5121 0.7129 0.2735 0.0902 0.4826 0.5937 0.5441 0.4541 0.65 0.72 0.61 0.53 0.65 rs1048610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5003 0.7170 0.2982 0.6273 0.0912 0.4854 0.5958 0.5479 0.4571 0.5809 0.7159 0.3473 0.6126 0.1082 0.4630 0.5971 0.5225 hom 3593.07 117 2 9634856 . A G 3593.07 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.45;MQ0=0;QD=30.71;VQSLOD=9.2350;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3592,298,0 2 10045014 10045014 C T exonic TAF1B synonymous SNV TAF1B:NM_001318977:exon8:c.C69T:p.Y23Y,TAF1B:NM_001318976:exon9:c.C69T:p.Y23Y,TAF1B:NM_005680:exon9:c.C834T:p.Y278Y 0.82 0.66 0.94 0.83 0.93 0.83 0.8918 0.6859 0.9579 0.8281 0.9044 0.9342 0.9007 0.8309 0.85 0.69 0.93 0.76 0.91 rs400917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8982 0.6870 0.9537 0.9065 0.8271 0.9009 0.9385 0.9075 0.8304 0.8558 0.6903 0.9388 0.8940 0.8168 0.9057 0.9362 0.8971 hom 2142.39 70 2 10045014 . C T 2142.39 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.73;MQ0=0;QD=30.61;VQSLOD=8.6228;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2175,172,0 2 10045024 10045024 G A exonic TAF1B nonsynonymous SNV TAF1B:NM_001318977:exon8:c.G79A:p.V27I,TAF1B:NM_001318976:exon9:c.G79A:p.V27I,TAF1B:NM_005680:exon9:c.G844A:p.V282I 0.93 0.75 0.98 1. 1. 1. 0.9796 0.7904 0.9881 1 1 0.9978 0.9923 0.9998 0.93 0.8 1. 0.87 0.98 rs396190 . . . . . . . . . . . . . 0.657 0.047 T 0.0 0.026 B 0.0 0.013 B 0.023 0.264 N 1 0.090 P -1.59 0.004 N 4.94 0.014 T -0.16 0.095 N 0.009 0.081 -1.012 0.264 T 0.000 0.000 T . . . 0.110 0.104 3.720 0.505 0.043 0.004 0.019 N c -1.200 -1.080 0.112 0.167 0.706 0.609 0 3.27 0.364 0.568 0.232 0.202 0.252 0.005 0.169 0.903 0.383 1.793 0.028 . . . 0.9838 0.7896 0.9886 0.9790 1 1 0.9990 0.9887 0.9997 0.9404 0.7926 0.9856 0.9868 1 1 0.9993 0.9878 hom 2022.59 64 2 10045024 . G A 2022.59 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=31.60;VQSLOD=9.2977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2056,163,0 2 10050947 10050947 T C exonic TAF1B synonymous SNV TAF1B:NM_001318977:exon9:c.T273C:p.A91A,TAF1B:NM_001318976:exon10:c.T273C:p.A91A,TAF1B:NM_005680:exon10:c.T1038C:p.A346A 0.43 0.13 0.54 0.45 0.66 0.51 0.5743 0.1991 0.4737 0.4761 0.6050 0.6721 0.6225 0.5227 0.51 0.21 0.67 0.4 0.66 rs1054561 COSM3757519 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5768 0.1930 0.4801 0.6321 0.4725 0.6000 0.6764 0.6181 0.5260 0.5169 0.2086 0.5119 0.6854 0.4702 0.6094 0.6711 0.6033 het 1557.25 104 2 10050947 . T C 1557.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.207;DP=104;Dels=0.00;FS=1.639;HRun=1;HaplotypeScore=2.7976;MQ=58.29;MQ0=0;MQRankSum=-0.024;QD=14.97;ReadPosRankSum=-0.501;VQSLOD=5.5798;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,57:104:99:1587,0,1186 2 10050960 10050960 A G exonic TAF1B nonsynonymous SNV TAF1B:NM_001318977:exon9:c.A286G:p.T96A,TAF1B:NM_001318976:exon10:c.A286G:p.T96A,TAF1B:NM_005680:exon10:c.A1051G:p.T351A 0.43 0.13 0.54 0.45 0.66 0.51 0.5743 0.1992 0.4737 0.4759 0.6053 0.6720 0.6225 0.5228 0.51 0.21 0.67 0.4 0.66 rs1054565 COSM3757520 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.269 0.161 T 0.024 0.178 B 0.005 0.104 B 0.026 0.260 N 1 0.090 P 1.345 0.336 L 3.96 0.034 T -0.78 0.216 N 0.017 0.008 -1.073 0.089 T 0.000 0.000 T . . . 0.243 0.117 5.127 0.940 0.234 0.415 0.264 N c -0.587 -0.490 0.935 0.272 0.732 0.924 0 2.11 0.262 1.320 0.331 1.140 0.893 0.907 0.314 0.960 0.441 5.882 0.180 . ENSG00000269973.1|ENSG00000269973.1|ENSG00000115750.12|ENSG00000115750.12|ENSG00000115750.12|ENSG00000269973.1|ENSG00000115750.12|ENSG00000115750.12|ENSG00000115750.12 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5766 0.1927 0.4791 0.6318 0.4720 0.6002 0.6763 0.6176 0.5257 0.5169 0.2091 0.5119 0.6854 0.4702 0.6095 0.6708 0.6045 het 1422.17 106 2 10050960 . A G 1422.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.622;DP=106;Dels=0.00;FS=2.521;HRun=0;HaplotypeScore=3.4591;MQ=59.35;MQ0=0;MQRankSum=0.715;QD=13.42;ReadPosRankSum=-0.107;VQSLOD=6.0635;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,55:106:99:1452,0,1390 2 10059770 10059770 G T exonic TAF1B nonsynonymous SNV TAF1B:NM_001318977:exon13:c.G621T:p.E207D,TAF1B:NM_001318976:exon14:c.G621T:p.E207D,TAF1B:NM_005680:exon14:c.G1386T:p.E462D 0.44 0.13 0.54 0.48 0.67 0.52 0.5827 0.1999 0.4746 0.4942 0.6491 0.6795 0.6322 0.5246 0.52 0.21 0.67 0.4 0.65 rs1820965 COSM3757521 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.986 0.020 T 0.0 0.026 B 0.0 0.013 B 0.324 0.142 N 1 0.090 P -2.4 0.001 N 1.13 0.386 T 0.13 0.055 N 0.018 0.014 -0.965 0.382 T 0.000 0.000 T . . . -0.503 0.055 0.215 0.217 0.008 0.041 0.094 N c -1.094 -0.919 0.049 0.148 0.706 0.609 0 1.66 0.230 0.482 0.218 0.087 0.193 0.978 0.348 0.306 0.238 1.416 0.021 . ENSG00000269973.1|ENSG00000269973.1|ENSG00000115750.12|ENSG00000115750.12|ENSG00000115750.12|ENSG00000269973.1|ENSG00000115750.12|ENSG00000115750.12|ENSG00000269973.1 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5847 0.1955 0.4824 0.6325 0.4908 0.6428 0.6815 0.6205 0.5274 0.5275 0.2102 0.5144 0.6854 0.4763 0.6489 0.6807 0.6237 het 982.75 90 2 10059770 . G T 982.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.847;DP=90;Dels=0.00;FS=5.269;HRun=1;HaplotypeScore=2.6722;MQ=57.70;MQ0=0;MQRankSum=-0.337;QD=10.92;ReadPosRankSum=-1.303;VQSLOD=4.4514;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,40:90:99:1013,0,1288 2 10095185 10095185 T C exonic GRHL1 synonymous SNV GRHL1:NM_198182:exon2:c.T162C:p.D54D 0.17 0.44 0.1 0.011 0.15 0.069 0.1322 0.3952 0.0775 0.0082 0.0767 0.1366 0.1244 0.0845 0.2 0.34 0.13 0.28 . rs16867251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1228 0.3931 0.0808 0.1349 0.0079 0.0784 0.1338 0.1350 0.0853 0.1915 0.3930 0.0943 0.1126 0.0068 0.0763 0.1326 0.1276 het 849.64 75 2 10095185 . T C 849.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.067;DP=75;Dels=0.00;FS=7.012;HRun=0;HaplotypeScore=0.0000;MQ=57.86;MQ0=0;MQRankSum=1.744;QD=11.33;ReadPosRankSum=0.684;VQSLOD=4.6048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,36:75:99:880,0,1019 2 10101468 10101468 A G exonic GRHL1 nonsynonymous SNV GRHL1:NM_198182:exon4:c.A572G:p.N191S 0.18 0.44 0.11 0.012 0.15 0.074 0.1322 0.3897 0.0760 0.0081 0.0762 0.1352 0.1222 0.0850 0.21 0.36 0.13 0.28 0.2 rs16867256 COSM5904723;COSM5904721;COSM5904722 1(skin) . . . . . . . . . . . 0.78 0.033 T 0.0 0.026 B 0.0 0.013 B 0.085 0.207 N 1 0.090 P . . . 2.8 0.111 T -0.28 0.116 N 0.003 0.000 -0.954 0.403 T 0.000 0.000 T . . . -3.190 0.001 0.001 0.309 0.017 0.106 0.159 N c -1.988 -2.023 1.000 0.747 0.615 0.372 0 -8.89 0.007 -0.411 0.071 -1.917 0.006 0.000 0.063 0.001 0.043 10.473 0.436 . ENSG00000134317.13 Skin_Sun_Exposed_Lower_leg 0.1234 0.3936 0.0810 0.1353 0.0079 0.0784 0.1343 0.1353 0.0870 0.1931 0.3974 0.0967 0.1126 0.0068 0.0758 0.1334 0.1263 het 4192.89 248 2 10101468 . A G 4192.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.599;DP=248;DS;Dels=0.00;FS=9.240;HRun=0;HaplotypeScore=5.6305;MQ=59.52;MQ0=0;MQRankSum=1.485;QD=16.91;ReadPosRankSum=0.090;VQSLOD=4.0381;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:119,129:248:99:3560,0,3268 2 10126330 10126330 G A exonic GRHL1 nonsynonymous SNV GRHL1:NM_198182:exon9:c.G1189A:p.V397I 0.26 0.31 0.4 0.26 0.23 0.14 0.2537 0.3188 0.4538 0.2753 0.3199 0.2257 0.2445 0.1483 0.25 0.31 0.21 0.27 0.28 rs2303920 COSM3757525;COSM148796;COSM3757524 1(stomach);1(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 0.999 0.211 P -1.79 0.003 N 2.42 0.154 T 0.79 0.019 N 0.091 0.112 -0.929 0.443 T 0.000 0.000 T . . . 1.161 0.206 11.54 0.198 0.007 0.240 0.220 N c -0.841 -0.554 1.000 0.747 0.554 0.246 0 5.49 0.809 6.313 0.726 0.126 0.213 1.000 0.715 0.981 0.494 11.477 0.494 CP2 transcription factor ENSG00000134317.13|ENSG00000134317.13|ENSG00000134317.13 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2590 0.3165 0.4410 0.2713 0.2622 0.3236 0.2117 0.2680 0.1495 0.2740 0.3185 0.3983 0.2433 0.2528 0.3202 0.2336 0.2725 het 3160.98 250 2 10126330 . G A 3160.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.289;DP=250;DS;Dels=0.00;FS=3.506;HRun=2;HaplotypeScore=9.8815;MQ=59.27;MQ0=0;MQRankSum=-0.360;QD=12.64;ReadPosRankSum=-0.620;VQSLOD=4.2485;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,119:250:99:3191,0,3622 2 10188649 10188649 A T exonic KLF11 synonymous SNV KLF11:NM_001177716:exon3:c.A1134T:p.V378V,KLF11:NM_001177718:exon3:c.A1134T:p.V378V,KLF11:NM_003597:exon3:c.A1185T:p.V395V 0.84 0.82 0.87 0.83 0.82 0.85 0.8340 0.8213 0.9110 0.8467 0.9085 0.8176 0.8656 0.8158 0.81 0.81 0.81 0.78 0.85 rs11687357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8369 0.8192 0.9036 0.8516 0.8488 0.9062 0.8081 0.8510 0.8146 0.8352 0.8155 0.8911 0.8411 0.8562 0.8940 0.8258 0.8595 het 2491.09 195 2 10188649 . A T 2491.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.612;DP=195;Dels=0.00;FS=0.540;HRun=1;HaplotypeScore=3.8070;MQ=58.98;MQ0=0;MQRankSum=0.208;QD=12.77;ReadPosRankSum=-1.097;VQSLOD=5.8167;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:100,95:195:99:2521,0,2562 2 10262920 10262920 T G exonic RRM2 nonsynonymous SNV RRM2:NM_001165931:exon1:c.T175G:p.S59A 0.65 0.95 0.55 0.34 0.73 0.56 0.7160 0.9107 0.6226 0.4320 0.7613 0.7548 0.7414 0.6091 0.77 0.89 0.71 0.52 0.32 rs1130609 COSM440905 3(thyroid) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.299 0.039 N 1 0.195 P . . . -4.43 0.975 D 0.21 0.048 N 0.026 0.008 -0.902 0.478 T 0.000 0.000 T . . . -0.290 0.069 0.701 0.764 0.111 0.018 0.056 N c -1.193 -1.365 1.000 0.747 0.442 0.072 0 -3.44 0.045 -2.101 0.014 -1.134 0.018 0.000 0.063 0.000 0.016 1.206 0.018 . ENSG00000171848.9 Colon_Transverse 0.6581 0.9088 0.5351 0.6878 0.3285 0.7165 0.7283 0.6859 0.5900 0.7479 0.9040 0.5916 0.6523 0.3278 0.7250 0.7214 0.6994 hom 545.20 20 2 10262920 . T G 545.20 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.91;MQ0=0;QD=27.26;VQSLOD=7.5382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.14:578,48,0 2 10350599 10350599 G C exonic C2orf48 nonsynonymous SNV C2orf48:NM_182626:exon4:c.G356C:p.W119S 0.029 0.0038 0.039 . 0.095 0.015 0.0611 0.0149 0.0396 0 0.0712 0.0893 0.0798 0.0181 0.068 0.018 0.093 . 0.049 rs7423163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0615 0.0134 0.0422 0.0627 5.798e-05 0.0746 0.0917 0.0762 0.0192 0.0601 0.0135 0.0477 0.0728 0 0.0808 0.0888 0.0694 het 858.39 83 2 10350599 . G C 858.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.625;DP=83;Dels=0.00;FS=1.986;HRun=0;HaplotypeScore=1.5661;MQ=59.55;MQ0=0;MQRankSum=0.616;QD=10.34;ReadPosRankSum=-0.949;VQSLOD=6.3245;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,34:83:99:888,0,1390 2 10717806 10717806 C T exonic NOL10 nonsynonymous SNV NOL10:NM_001261392:exon19:c.G1825A:p.D609N,NOL10:NM_001261394:exon19:c.G1753A:p.D585N,NOL10:NM_024894:exon20:c.G1903A:p.D635N 0.13 0.011 0.18 0.13 0.27 0.12 0.2300 0.0524 0.1404 0.1229 0.2049 0.3091 0.2412 0.1439 0.22 0.059 0.3 0.16 . rs2287059 COSM4001118;COSM4001119 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.327 0.145 T 0.003 0.353 B 0.004 0.339 B 0.000 0.843 D 0.000 0.588 P 2.215 0.627 M 0.95 0.433 T -0.63 0.185 N 0.059 0.147 -1.010 0.269 T 0.000 0.000 T . . . 3.250 0.450 22.8 0.998 0.850 0.952 0.636 D c 0.103 0.253 1.000 0.747 0.732 0.924 0 5.99 0.973 3.183 0.504 0.016 0.142 0.992 0.373 0.634 0.295 20.478 0.992 . ENSG00000243819.3|ENSG00000243819.3|ENSG00000243819.3|ENSG00000243819.3|ENSG00000243819.3|ENSG00000243819.3|ENSG00000115761.11|ENSG00000243819.3 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Testis|Thyroid 0.2165 0.0454 0.1382 0.3166 0.1191 0.1901 0.2979 0.2515 0.1284 0.1956 0.0543 0.1659 0.4033 0.1228 0.1906 0.2812 0.2413 het 219.34 37 2 10717806 . C T 219.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.841;DP=37;Dels=0.00;FS=1.378;HRun=1;HaplotypeScore=0.0000;MQ=57.78;MQ0=0;MQRankSum=-1.445;QD=5.93;ReadPosRankSum=1.013;VQSLOD=2.3109;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,11:37:99:249,0,592 2 10908893 10908893 A G exonic ATP6V1C2 nonsynonymous SNV ATP6V1C2:NM_001039362:exon6:c.A427G:p.N143D,ATP6V1C2:NM_144583:exon6:c.A427G:p.N143D 0.45 0.34 0.44 0.66 0.36 0.49 0.4212 0.3344 0.4907 0.6416 0.3742 0.3857 0.4623 0.4713 0.36 0.33 0.37 0.35 0.36 rs1198849 COSM4001122;COSM4001123 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.009 0.614 D 0.112 0.247 B 0.266 0.380 B 0.000 0.629 D 0.001 0.454 P . . . 0.6 0.537 T -4.66 0.808 D 0.043 0.036 -0.934 0.435 T 0.000 0.000 T . . . 2.706 0.386 20.8 0.989 0.483 0.964 0.685 D c -0.089 -0.067 1.000 0.747 0.554 0.246 0 4.48 0.538 5.728 0.680 -0.165 0.106 1.000 0.715 0.773 0.328 10.718 0.450 . ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000143882.5|ENSG00000272275.1|ENSG00000143882.5|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1|ENSG00000272275.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Spleen|Stomach|Testis|Thyroid 0.4256 0.3317 0.4855 0.5265 0.6344 0.3851 0.3745 0.4393 0.4701 0.3763 0.3294 0.4570 0.5066 0.6300 0.3887 0.3647 0.3975 het 1592.08 126 2 10908893 . A G 1592.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.212;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7559;MQ=58.89;MQ0=0;MQRankSum=1.758;QD=12.64;ReadPosRankSum=-0.368;VQSLOD=4.6145;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,67:126:99:1622,0,1460 2 11053020 11053020 A G exonic KCNF1 synonymous SNV KCNF1:NM_002236:exon1:c.A468G:p.A156A 0.89 0.98 0.83 0.97 0.84 0.8 0.8534 0.9521 0.8796 0.9532 0.7625 0.8392 0.8371 0.8203 0.88 0.95 0.84 0.63 0.61 rs3732104 COSM440976 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8515 0.9547 0.8720 0.8611 0.9545 0.7775 0.8374 0.8526 0.8195 0.8582 0.9520 0.8663 0.85 0.9562 0.7765 0.8142 0.8235 hom 1967.79 63 2 11053020 . A G 1967.79 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.23;VQSLOD=13.1750;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2001,168,0 2 11359120 11359120 G T exonic ROCK2 nonsynonymous SNV ROCK2:NM_001321643:exon10:c.C1034A:p.T345N,ROCK2:NM_004850:exon10:c.C1292A:p.T431N 0.4 0.2 0.56 0.39 0.53 0.43 0.4981 0.2539 0.5822 0.4238 0.5452 0.5343 0.5212 0.4563 0.45 0.27 0.53 0.38 0.53 rs2230774 COSM4778221;COSM148799 1(stomach);14(soft_tissue);3(prostate);1(large_intestine) Benign not_specified RCV000454422.1 MedGen CN169374 . . . . . . 0.874 0.027 T 0.0 0.026 B 0.0 0.013 B 0.021 0.270 N 0.999 0.220 P -1.285 0.007 N 0.02 0.623 T 0.3 0.041 N 0.022 0.051 -0.919 0.457 T 0.000 0.000 T . . . 0.911 0.181 10.14 0.389 0.026 0.009 0.036 N c -0.896 -0.600 0.977 0.297 0.732 0.924 0 4.39 0.520 1.025 0.295 0.054 0.162 1.000 0.715 0.996 0.625 6.436 0.209 . ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8|ENSG00000162976.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.4866 0.2395 0.5383 0.4383 0.3958 0.5395 0.5280 0.4993 0.4341 0.4701 0.2578 0.5695 0.4570 0.3960 0.5512 0.5723 0.5532 het 759.38 89 2 11359120 . G T 759.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.303;DP=89;Dels=0.00;FS=0.802;HRun=3;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;MQRankSum=0.389;QD=8.53;ReadPosRankSum=0.706;VQSLOD=5.7927;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,36:89:99:789,0,1364 2 11702661 11702661 A C exonic GREB1 nonsynonymous SNV GREB1:NM_014668:exon3:c.A230C:p.N77T,GREB1:NM_033090:exon3:c.A230C:p.N77T,GREB1:NM_148903:exon3:c.A230C:p.N77T 0.42 0.033 0.51 0.55 0.54 0.59 0.5328 0.1134 0.5423 0.4979 0.6744 0.5732 0.5514 0.5927 0.42 0.13 0.56 0.4 0.48 rs10929757 COSM4133020;COSM4133022;COSM4133021 2(thyroid) . . . . . . . . . . . 0.179 0.220 T 0.002 0.102 B 0.007 0.133 B 0.003 0.361 N 1 0.189 P 0.6 0.156 N 3.33 0.166 T -0.34 0.156 N 0.046 0.104 -0.952 0.407 T 0.000 0.000 T . . . -0.190 0.077 1.153 0.909 0.196 0.461 0.275 N c -0.640 -0.603 0.993 0.330 0.706 0.609 0 1.6 0.226 3.256 0.509 1.082 0.851 0.522 0.269 0.297 0.237 1.527 0.024 . . . 0.5427 0.1087 0.5358 0.5294 0.5094 0.6656 0.5735 0.5462 0.5821 0.4592 0.1164 0.5048 0.5563 0.5175 0.6738 0.5911 0.5564 hom 6609.70 203 2 11702661 . A C 6609.70 Mask AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7241;MQ=59.52;MQ0=0;QD=32.56;VQSLOD=9.5283;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6609,518,0 2 11738091 11738091 T C exonic GREB1 synonymous SNV GREB1:NM_014668:exon14:c.T2139C:p.H713H 0.92 0.76 0.97 0.97 0.99 0.96 0.9722 0.7985 0.9833 0.9757 0.9998 0.9954 0.9822 0.9602 0.94 0.82 1. 0.89 0.93 rs1435547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9755 0.7940 0.9835 0.9789 0.9765 0.9999 0.9965 0.9792 0.9606 0.9396 0.8006 0.9761 0.9868 0.9723 1 0.9969 0.9827 hom 7418.72 235 2 11738091 . T C 7418.72 Mask AC=2;AF=1.00;AN=2;DP=235;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=31.57;VQSLOD=9.2321;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,235:235:99:7417,650,0 2 11752635 11752635 T C exonic GREB1 synonymous SNV GREB1:NM_014668:exon19:c.T3021C:p.I1007I 0.98 0.95 0.99 0.98 1. 0.98 0.9908 0.9569 0.9914 0.9782 0.9998 0.9969 0.9889 0.9888 0.99 0.96 1. 0.97 0.99 rs2304399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.9565 0.9924 0.9835 0.9785 0.9999 0.9978 0.9872 0.9890 0.9859 0.9601 0.9881 0.9934 0.9753 0.9997 0.9979 0.9949 hom 2473.28 81 2 11752635 . T C 2473.28 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.25;MQ0=0;QD=30.53;VQSLOD=9.1781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2506,199,0 2 11774324 11774324 G A exonic GREB1 nonsynonymous SNV GREB1:NM_014668:exon29:c.G5059A:p.D1687N 0.41 0.42 0.36 0.3 0.48 0.45 0.4485 0.4301 0.2927 0.3008 0.4349 0.4994 0.4389 0.4458 0.48 0.42 0.51 0.58 0.47 rs2304402 COSM4001154 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.785 0.032 T 0.001 0.067 B 0.002 0.063 B 0.001 0.419 N 1.000 0.186 P -0.915 0.013 N 1.02 0.407 T 1.03 0.014 N 0.03 0.025 -0.912 0.466 T 0.000 0.000 T . . . 0.681 0.159 8.705 0.813 0.131 0.069 0.128 N c -1.218 -1.073 0.979 0.299 0.719 0.830 0 1.17 0.199 1.230 0.320 -0.118 0.114 0.535 0.270 0.301 0.237 9.407 0.374 . . . 0.4417 0.4309 0.3017 0.5195 0.2971 0.4343 0.5014 0.4520 0.4435 0.4544 0.4377 0.3520 0.5132 0.3097 0.4387 0.4887 0.4409 hom 6244.02 194 2 11774324 . G A 6244.02 Mask AC=2;AF=1.00;AN=2;DP=194;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7107;MQ=59.81;MQ0=0;QD=32.19;VQSLOD=9.2388;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:6243,494,0 2 15601441 15601441 C T exonic NBAS synonymous SNV NBAS:NM_015909:exon21:c.G2223A:p.L741L 0.52 0.56 0.63 0.22 0.69 0.54 0.6049 0.5796 0.5506 0.2117 0.5738 0.6790 0.5826 0.5791 0.65 0.58 0.68 0.58 0.61 rs7590340 COSM3757685 3(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6047 0.5804 0.5613 0.7283 0.2145 0.5769 0.6808 0.6352 0.5818 0.6050 0.5804 0.5863 0.7185 0.2086 0.5827 0.6652 0.6166 het 1419.81 108 2 15601441 . C T 1419.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.394;DP=108;Dels=0.00;FS=1.651;HRun=0;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;MQRankSum=-0.769;QD=13.15;ReadPosRankSum=-1.674;VQSLOD=6.0187;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,57:108:99:1450,0,1395 2 15607842 15607842 T C exonic NBAS nonsynonymous SNV NBAS:NM_015909:exon18:c.A1964G:p.K655R 0.36 0.11 0.57 0.16 0.69 0.42 0.5505 0.2012 0.5121 0.1531 0.5722 0.6777 0.5546 0.4795 0.52 0.22 0.68 0.3 0.52 rs4668909 COSM1741288 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);2(large_intestine) . . . . . . . . . . . 0.453 0.089 T 0.0 0.026 B 0.002 0.063 B 0.000 0.537 N 1 0.205 P 0.915 0.234 L 3.02 0.090 T -0.61 0.181 N 0.025 0.007 -0.985 0.337 T 0.000 0.000 T . . . -0.097 0.085 1.751 0.968 0.306 0.678 0.333 D c -0.881 -0.837 0.000 0.065 0.732 0.924 0 -1.26 0.088 1.459 0.346 -0.308 0.079 0.997 0.399 0.253 0.228 12.019 0.524 . ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Testis|Thyroid 0.5556 0.1949 0.5205 0.7210 0.1483 0.5759 0.6775 0.6049 0.4838 0.4929 0.2113 0.5407 0.7152 0.1281 0.5834 0.6618 0.5859 het 941.15 55 2 15607842 . T C 941.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.852;DP=55;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=58.73;MQ0=0;MQRankSum=0.142;QD=17.11;ReadPosRankSum=-1.349;VQSLOD=6.5654;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,33:55:99:971,0,557 2 15614404 15614404 T C exonic NBAS synonymous SNV NBAS:NM_015909:exon15:c.A1386G:p.R462R 0.52 0.55 0.62 0.22 0.69 0.53 0.6050 0.5721 0.5519 0.2167 0.5743 0.6807 0.5820 0.5692 0.65 0.57 0.68 0.56 0.55 rs13014906 COSM3757686 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6026 0.5703 0.5607 0.7281 0.2153 0.5769 0.6809 0.6336 0.5702 0.6014 0.5695 0.5839 0.7185 0.2078 0.5829 0.6643 0.6161 het 818.50 58 2 15614404 . T C 818.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.247;DP=58;Dels=0.00;FS=7.487;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.016;QD=14.11;ReadPosRankSum=0.639;VQSLOD=4.9850;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:848,0,744 2 15615910 15615910 A G exonic NBAS synonymous SNV NBAS:NM_015909:exon14:c.T1242C:p.S414S 0.49 0.52 0.6 0.17 0.69 0.51 0.5909 0.5415 0.5294 0.1558 0.5730 0.6771 0.5727 0.5518 0.64 0.54 0.68 0.52 0.64 rs1990754 COSM148803 1(stomach);2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5906 0.5417 0.5392 0.7283 0.1537 0.5763 0.6792 0.6264 0.5545 0.5869 0.5371 0.5625 0.7185 0.1323 0.5819 0.6632 0.6100 het 848.43 79 2 15615910 . A G 848.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.853;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6385;MQ=57.69;MQ0=1;MQRankSum=-0.610;QD=10.74;ReadPosRankSum=0.250;VQSLOD=4.9150;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:878,0,1074 2 15674686 15674686 T C exonic NBAS nonsynonymous SNV NBAS:NM_015909:exon9:c.A727G:p.I243V 0.39 0.21 0.58 0.16 0.69 0.42 0.5553 0.2781 0.5144 0.1510 0.5724 0.6741 0.5584 0.4833 0.55 0.3 0.68 0.36 0.65 rs13029846 COSM3757687 4(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.704 0.041 T 0.001 0.067 B 0.002 0.063 B 0.015 0.285 N 1 0.266 P 1.135 0.291 L 0.9 0.453 T 0.15 0.053 N 0.029 0.010 -0.931 0.440 T 0.000 0.000 T . . . -0.628 0.048 0.107 0.449 0.034 0.083 0.141 N c -0.964 -0.979 0.013 0.125 0.706 0.609 0 -4.29 0.034 -0.082 0.112 -0.217 0.098 0.001 0.137 0.922 0.397 9.352 0.371 Neuroblastoma-amplified sequence\x2c N-terminal|Quinoprotein amine dehydrogenase\x2c beta chain-like|WD40/YVTN repeat-like-containing domain ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8|ENSG00000151779.8 Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Testis|Thyroid 0.5613 0.2745 0.5236 0.7081 0.1495 0.5764 0.6771 0.6060 0.4899 0.5135 0.2848 0.5453 0.7185 0.1324 0.5825 0.6613 0.5816 het 2558.11 244 2 15674686 . T C 2558.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.356;DP=244;Dels=0.00;FS=3.009;HRun=0;HaplotypeScore=8.4674;MQ=59.16;MQ0=0;MQRankSum=0.606;QD=10.48;ReadPosRankSum=1.021;VQSLOD=4.4657;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:134,109:244:99:2588,0,3477 2 15747393 15747393 C T exonic DDX1 synonymous SNV DDX1:NM_004939:exon13:c.C912T:p.N304N 0.74 0.84 0.62 0.87 0.55 0.78 0.6428 0.8131 0.6754 0.8911 0.5277 0.5686 0.6004 0.7306 0.65 0.81 0.57 0.76 0.59 rs10929378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6390 0.8166 0.6784 0.5775 0.8869 0.5336 0.5695 0.6031 0.7236 0.6525 0.8088 0.6483 0.5993 0.8886 0.5287 0.5715 0.5692 het 1100.79 129 2 15747393 . C T 1100.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.049;DP=129;Dels=0.00;FS=1.611;HRun=0;HaplotypeScore=1.9573;MQ=59.35;MQ0=0;MQRankSum=-0.052;QD=8.53;ReadPosRankSum=0.191;VQSLOD=6.4701;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,44:129:99:1131,0,2417 2 17696573 17696573 C T exonic RAD51AP2 nonsynonymous SNV RAD51AP2:NM_001099218:exon1:c.G3110A:p.G1037D,RAD51AP2:NM_001321233:exon5:c.G3083A:p.G1028D 0.58 0.13 0.63 0.88 0.62 0.8 0.6441 0.2132 0.7616 0.8785 0.6832 0.6162 0.6833 0.7897 0.51 0.26 0.62 0.48 0.54 rs834514 COSM5001941 1(pancreas) . . . . . . . . . . . 0.156 0.241 T 0.087 0.234 B 0.063 0.256 B . . . 1 0.090 P 0.625 0.159 N 1.45 0.325 T -3.77 0.714 D 0.078 0.069 -1.071 0.092 T 0.000 0.000 T . . . 0.802 0.170 9.475 0.470 0.038 0.055 0.112 N c -0.930 -0.923 0.472 0.207 0.554 0.283 0 2.29 0.275 0.339 0.195 0.855 0.374 0.000 0.063 0.076 0.179 5.672 0.169 . ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000214842.5|ENSG00000178295.10|ENSG00000163032.7|ENSG00000163029.11|ENSG00000178295.10|ENSG00000178295.10|ENSG00000214842.5|ENSG00000163029.11|ENSG00000178295.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Liver|Liver|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid 0.6536 0.2015 0.7541 0.5854 0.8751 0.6794 0.6171 0.6366 0.7836 0.5265 0.2194 0.6983 0.5927 0.8901 0.6765 0.6122 0.6464 het 892.87 87 2 17696573 . C T 892.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.944;DP=87;Dels=0.00;FS=4.249;HRun=0;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;MQRankSum=1.935;QD=10.26;ReadPosRankSum=0.952;VQSLOD=4.7082;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,38:87:99:923,0,1326 2 17698678 17698678 A G exonic RAD51AP2 synonymous SNV RAD51AP2:NM_001099218:exon1:c.T1005C:p.S335S,RAD51AP2:NM_001321233:exon5:c.T978C:p.S326S 0.6 0.16 0.66 0.88 0.65 0.8 0.6720 0.2463 0.7962 0.8784 0.6972 0.6489 0.7054 0.8111 0.55 0.29 0.66 0.49 0.57 rs665312 COSM3757783 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6815 0.2323 0.7898 0.6131 0.8750 0.6924 0.6507 0.6667 0.8058 0.5531 0.2506 0.7279 0.6133 0.8910 0.6927 0.6418 0.6694 het 649.51 56 2 17698678 . A G 649.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.422;DP=56;Dels=0.00;FS=14.890;HRun=0;HaplotypeScore=1.6483;MQ=59.67;MQ0=0;MQRankSum=1.250;QD=11.60;ReadPosRankSum=0.455;VQSLOD=4.0434;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,24:56:99:680,0,762 2 17884495 17884495 C T exonic SMC6 nonsynonymous SNV SMC6:NM_024624:exon18:c.G2071A:p.A691T,SMC6:NM_001142286:exon19:c.G2071A:p.A691T 0.21 0.35 0.22 0.012 0.32 0.079 0.2702 0.3293 0.1499 0.0157 0.4009 0.3423 0.2645 0.1065 0.33 0.32 0.33 0.2 0.16 rs1065381 . . . . . . . . . . . . . 0.225 0.186 T 0.0 0.026 B 0.002 0.080 B 0.051 0.230 N 0.968 0.258 P 0.205 0.094 N 1.57 0.317 T 0.02 0.068 N 0.01 0.002 -0.916 0.461 T 0.000 0.000 T . . . 1.434 0.235 12.96 0.894 0.182 0.797 0.393 D c -0.671 -0.516 0.222 0.184 0.732 0.924 0 1.55 0.222 0.610 0.238 0.807 0.329 0.999 0.424 0.949 0.424 4.267 0.101 RecF/RecN/SMC\x2c N-terminal ENSG00000163029.11 Thyroid 0.2593 0.3201 0.1435 0.3175 0.0143 0.4008 0.3320 0.2760 0.1027 0.3173 0.3178 0.2005 0.3377 0.0180 0.3924 0.3378 0.3197 het 468.78 62 2 17884495 . C T 468.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.618;DP=62;Dels=0.00;FS=1.099;HRun=0;HaplotypeScore=1.8100;MQ=59.02;MQ0=0;MQRankSum=1.019;QD=7.56;ReadPosRankSum=0.394;VQSLOD=6.1694;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,23:62:99:499,0,1006 2 17942775 17942775 T A exonic GEN1 nonsynonymous SNV GEN1:NM_001130009:exon3:c.T274A:p.S92T,GEN1:NM_182625:exon3:c.T274A:p.S92T 0.81 0.77 0.78 0.99 0.64 0.9 0.7138 0.7665 0.8463 0.9842 0.5714 0.6217 0.7225 0.8746 0.67 0.76 0.63 0.83 0.68 rs1812152 . . . . . . . . . . . . . 1.0 0.089 T 0.0 0.026 B 0.002 0.063 B 0.084 0.207 N 1.000 0.588 P -0.86 0.015 N -0.01 0.628 T 1.56 0.008 N 0.023 0.084 -1.005 0.284 T 0.000 0.000 T . . . 0.082 0.102 3.418 0.698 0.088 0.022 0.063 N c -1.146 -1.024 0.987 0.312 0.732 0.924 0 0.326 0.151 0.663 0.246 0.242 0.267 0.128 0.231 0.953 0.430 6.29 0.201 PIN domain-like|XPG N-terminal ENSG00000163029.11 Thyroid 0.7162 0.7641 0.8391 0.6554 0.9843 0.5718 0.6234 0.6891 0.8736 0.6849 0.7717 0.7912 0.6376 0.9790 0.5835 0.6234 0.6493 het 1540.09 98 2 17942775 . T A 1540.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.317;DP=98;Dels=0.00;FS=3.837;HRun=0;HaplotypeScore=1.9402;MQ=59.53;MQ0=0;MQRankSum=0.511;QD=15.72;ReadPosRankSum=-0.007;VQSLOD=6.0666;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,57:98:99:1570,0,1029 2 17946243 17946243 A G exonic GEN1 nonsynonymous SNV GEN1:NM_001130009:exon4:c.A428G:p.N143S,GEN1:NM_182625:exon4:c.A428G:p.N143S 0.13 0.24 0.12 0.034 0.11 0.099 0.1045 0.2356 0.0715 0.0336 0.0770 0.1042 0.0903 0.0950 0.15 0.23 0.1 0.16 0.22 rs16981869 COSM4001384 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.03 0.453 D 0.812 0.435 P 0.553 0.475 P 0.011 0.297 N 0.485 0.588 P 2.21 0.624 M -0.45 0.699 T -4.4 0.773 D 0.048 0.029 -1.083 0.067 T 0.000 0.000 T . . . 3.262 0.451 22.8 0.993 0.573 0.971 0.725 D c -0.097 -0.120 0.997 0.355 0.719 0.830 0 3.32 0.370 7.122 0.766 0.239 0.266 1.000 0.715 0.625 0.293 8.027 0.294 PIN domain-like|XPG-I domain ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000163029.11|ENSG00000178295.10|ENSG00000178295.10|ENSG00000163029.11|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000163029.11|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10|ENSG00000178295.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.1002 0.2385 0.0739 0.0997 0.0353 0.0790 0.1044 0.1044 0.0963 0.1391 0.2383 0.0919 0.1126 0.0334 0.0784 0.1127 0.0992 het 2393.51 170 2 17946243 . A G 2393.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.510;DP=170;Dels=0.00;FS=3.558;HRun=0;HaplotypeScore=6.6191;MQ=59.12;MQ0=0;MQRankSum=-1.013;QD=14.08;ReadPosRankSum=1.808;VQSLOD=4.1034;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,87:170:99:2424,0,2184 2 17954027 17954027 G A exonic GEN1 nonsynonymous SNV GEN1:NM_001130009:exon8:c.G929A:p.S310N,GEN1:NM_182625:exon8:c.G929A:p.S310N 0.98 0.94 1. 1. 1. 0.97 0.9932 0.9521 0.9979 0.9998 1 0.9998 0.9989 0.9830 0.98 0.95 1. 1. 0.97 rs300175 . . . . . . . . . . . . . 0.706 0.041 T 0.001 0.067 B 0.001 0.040 B 0.252 0.037 N 1 0.090 P -0.66 0.021 N 0.81 0.485 T 0.46 0.031 N 0.085 0.080 -0.973 0.365 T 0.000 0.000 T . . . -3.164 0.001 0.001 0.646 0.073 0.008 0.033 N c -2.520 -2.556 1.000 0.747 0.732 0.924 0 -11.3 0.001 -2.300 0.012 -3.279 0.001 0.000 0.063 0.001 0.043 6.736 0.225 . . . 0.9944 0.9513 0.9973 0.9986 0.9998 1 0.9999 0.9980 0.9843 0.9882 0.9588 0.9976 1 1 1 1 0.9949 hom 1385.38 44 2 17954027 . G A 1385.38 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.05;MQ0=0;QD=31.49;VQSLOD=8.5366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1418,114,0 2 17962518 17962518 C T exonic GEN1 nonsynonymous SNV GEN1:NM_001130009:exon14:c.C2039T:p.T680I,GEN1:NM_182625:exon14:c.C2039T:p.T680I 0.76 0.57 0.76 0.99 0.64 0.9 0.6981 0.6009 0.8358 0.9843 0.5717 0.6210 0.7058 0.8743 0.62 0.61 0.62 0.76 0.61 rs300169 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.184 0.170 N 1 0.090 P -1.845 0.003 N 2.01 0.213 T 0.46 0.031 N 0.021 0.005 -0.997 0.308 T 0.000 0.000 T . . . -0.073 0.087 1.943 0.697 0.088 0.004 0.020 N c -1.381 -1.202 0.990 0.320 0.707 0.730 0 1.16 0.198 0.165 0.163 -0.251 0.090 0.001 0.137 0.862 0.360 0.545 0.006 . ENSG00000163029.11 Thyroid 0.7038 0.5955 0.8280 0.6545 0.9844 0.5719 0.6225 0.6818 0.8732 0.6392 0.6127 0.7721 0.63 0.9783 0.5833 0.6234 0.6442 het 971.45 86 2 17962518 . C T 971.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.161;DP=86;Dels=0.00;FS=12.930;HRun=0;HaplotypeScore=1.8924;MQ=58.65;MQ0=0;MQRankSum=0.213;QD=11.30;ReadPosRankSum=0.187;VQSLOD=4.4197;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,38:86:99:1001,0,1347 2 17998025 17998025 A T exonic MSGN1 nonsynonymous SNV MSGN1:NM_001105569:exon1:c.A240T:p.E80D 0.32 0.28 0.36 0.027 0.54 0.43 0.4610 0.3206 0.2767 0.0200 0.4269 0.5692 0.4933 0.4787 0.51 0.35 0.58 0.39 0.52 rs34069439 COSM4133319 1(thyroid) . . . . . . . . . . . 0.938 0.022 T 0.0 0.026 B 0.0 0.013 B 0.198 0.167 N 1 0.090 P -1.59 0.004 N 2.35 0.162 T -0.35 0.129 N 0.031 0.012 -0.971 0.371 T 0.000 0.000 T . . . -1.641 0.014 0.002 0.059 0.000 0.001 0.005 N c -1.358 -1.261 0.998 0.365 0.554 0.283 0 2.33 0.279 -0.459 0.068 -0.257 0.089 0.020 0.195 0.002 0.062 0.890 0.012 . ENSG00000178295.10 Muscle_Skeletal 0.4576 0.3137 0.2938 0.6371 0.0201 0.4396 0.5738 0.4963 0.4814 0.4409 0.3092 0.3565 0.5960 0.0253 0.4244 0.5663 0.4703 het 891.26 71 2 17998025 . A T 891.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.225;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7214;MQ=59.08;MQ0=0;MQRankSum=0.778;QD=12.55;ReadPosRankSum=-1.412;VQSLOD=5.9803;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,33:71:99:921,0,1235 2 17998095 17998095 C T exonic MSGN1 nonsynonymous SNV MSGN1:NM_001105569:exon1:c.C310T:p.H104Y 0.3 0.19 0.34 0.028 0.54 0.43 0.4553 0.2470 0.2740 0.0221 0.4294 0.5692 0.4944 0.4790 0.47 0.25 0.57 0.37 0.54 rs35858730 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.014 0.287 N 1 0.090 P -2.045 0.002 N 2.35 0.162 T 0.82 0.018 N 0.046 0.026 -0.970 0.372 T 0.000 0.000 T . . . -1.884 0.010 0.002 0.273 0.013 0.006 0.027 N c -1.214 -1.042 1.000 0.480 0.497 0.185 0 5.77 0.910 1.259 0.323 0.154 0.240 0.002 0.151 0.050 0.164 8.870 0.343 . . . 0.4527 0.2397 0.2899 0.6368 0.0218 0.4408 0.5736 0.4931 0.4818 0.4207 0.2382 0.3529 0.5967 0.0260 0.4253 0.5658 0.4703 het 903.44 60 2 17998095 . C T 903.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.872;DP=60;Dels=0.00;FS=2.286;HRun=0;HaplotypeScore=1.7882;MQ=58.84;MQ0=0;MQRankSum=-0.142;QD=15.06;ReadPosRankSum=-0.291;VQSLOD=6.0247;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,34:60:99:933,0,724 2 17998331 17998331 T C exonic MSGN1 synonymous SNV MSGN1:NM_001105569:exon1:c.T546C:p.L182L 0.29 0.2 0.35 0.028 0.54 0.4 0.4497 0.2602 0.2762 0.0219 0.4273 0.5657 0.4809 0.4452 0.47 0.26 0.57 0.37 0.57 rs13001625 COSM4001435 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4461 0.2487 0.2915 0.6336 0.0218 0.4402 0.5686 0.4875 0.4455 0.4204 0.2460 0.3525 0.5861 0.0253 0.4244 0.5613 0.4673 het 1735.26 104 2 17998331 . T C 1735.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.360;DP=104;Dels=0.00;FS=5.309;HRun=0;HaplotypeScore=2.8304;MQ=60.00;MQ0=0;MQRankSum=0.832;QD=16.69;ReadPosRankSum=1.419;VQSLOD=4.5567;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,61:104:99:1765,0,1089 2 18112473 18112473 G A exonic KCNS3 synonymous SNV KCNS3:NM_001282428:exon3:c.G198A:p.E66E,KCNS3:NM_002252:exon3:c.G198A:p.E66E 0.94 0.81 0.98 1. 0.97 0.99 0.9629 0.8407 0.9817 1 0.9776 0.9664 0.9692 0.9869 0.93 0.85 0.97 0.95 0.97 rs4240213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9667 0.8389 0.9799 0.9547 0.9999 0.9786 0.9680 0.9703 0.9867 0.9350 0.8418 0.9702 0.9536 1 0.9788 0.9678 0.9633 hom 5425.47 159 2 18112473 . G A 5425.47 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9940;MQ=58.80;MQ0=0;QD=34.12;VQSLOD=9.6736;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5425,433,0 2 18113508 18113508 G A exonic KCNS3 synonymous SNV KCNS3:NM_001282428:exon3:c.G1233A:p.K411K,KCNS3:NM_002252:exon3:c.G1233A:p.K411K 0.36 0.33 0.38 0.47 0.16 0.45 0.2614 0.2960 0.4857 0.4569 0.2412 0.1662 0.2754 0.3727 0.2 0.29 0.16 0.35 0.12 rs3747516 COSM3757831 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2660 0.3030 0.4607 0.2071 0.4511 0.2381 0.1579 0.2343 0.3678 0.2250 0.2994 0.3900 0.2351 0.4382 0.2275 0.1485 0.2341 het 1175.87 147 2 18113508 . G A 1175.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.240;DP=147;Dels=0.00;FS=5.357;HRun=2;HaplotypeScore=4.3575;MQ=59.43;MQ0=0;MQRankSum=-0.588;QD=8.00;ReadPosRankSum=1.235;VQSLOD=4.0390;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,51:147:99:1206,0,2706 2 18113623 18113623 A G exonic KCNS3 nonsynonymous SNV KCNS3:NM_001282428:exon3:c.A1348G:p.T450A,KCNS3:NM_002252:exon3:c.A1348G:p.T450A 0.8 0.74 0.81 0.98 0.61 0.87 0.7120 0.7244 0.8602 0.9794 0.6291 0.6312 0.7247 0.8195 0.67 0.72 0.64 0.79 0.57 rs4832524 COSM3757832 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.018 0.275 N 1.000 0.194 P -0.69 0.019 N -4.14 0.968 D 0.48 0.030 N 0.008 0.000 -0.934 0.435 T 0.000 0.000 T . . . -0.497 0.056 0.224 0.210 0.008 0.662 0.327 D c -0.751 -0.493 0.002 0.089 0.706 0.609 0 3.9 0.441 3.633 0.538 0.138 0.222 1.000 0.715 0.926 0.400 5.325 0.151 . . . 0.7161 0.7271 0.8485 0.6851 0.9802 0.6350 0.6253 0.7018 0.8185 0.6713 0.7189 0.7864 0.6656 0.9765 0.6397 0.6109 0.6828 het 1937.38 168 2 18113623 . A G 1937.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.227;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4596;MQ=59.64;MQ0=0;MQRankSum=0.712;QD=11.53;ReadPosRankSum=-1.540;VQSLOD=5.9149;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,75:168:99:1967,0,2414 2 18757501 18757501 G C exonic NT5C1B;NT5C1B-RDH14 synonymous SNV NT5C1B-RDH14:NM_001199103:exon8:c.C1284G:p.L428L,NT5C1B:NM_033253:exon8:c.C1278G:p.L426L,NT5C1B:NM_001002006:exon9:c.C1458G:p.L486L,NT5C1B:NM_001199086:exon9:c.C1407G:p.L469L,NT5C1B:NM_001199087:exon9:c.C1509G:p.L503L,NT5C1B:NM_001199088:exon9:c.C1464G:p.L488L,NT5C1B-RDH14:NM_001199104:exon9:c.C1458G:p.L486L 0.31 0.66 0.31 0.11 0.19 0.18 0.2491 0.6122 0.2922 0.0920 0.1960 0.2149 0.2494 0.2320 0.34 0.59 0.21 0.4 0.21 rs3902946 COSM3933488 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2444 0.6194 0.2930 0.2586 0.0934 0.1983 0.2116 0.2420 0.2379 0.3234 0.6189 0.2758 0.2748 0.0893 0.2022 0.2157 0.2127 het 869.43 67 2 18757501 . G C 869.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.500;DP=67;Dels=0.00;FS=6.708;HRun=1;HaplotypeScore=0.0000;MQ=58.58;MQ0=0;MQRankSum=1.487;QD=12.98;ReadPosRankSum=-0.910;VQSLOD=4.0841;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:899,0,762 2 18768850 18768850 A G exonic NT5C1B;NT5C1B-RDH14 synonymous SNV NT5C1B:NM_001002006:exon2:c.T39C:p.P13P,NT5C1B:NM_001199086:exon2:c.T39C:p.P13P,NT5C1B:NM_001199087:exon2:c.T39C:p.P13P,NT5C1B:NM_001199088:exon2:c.T39C:p.P13P,NT5C1B-RDH14:NM_001199103:exon2:c.T39C:p.P13P,NT5C1B-RDH14:NM_001199104:exon2:c.T39C:p.P13P,NT5C1B:NM_033253:exon2:c.T39C:p.P13P 0.32 0.66 0.32 0.12 0.2 0.18 0.2499 0.6128 0.2942 0.0930 0.1955 0.2154 0.2522 0.2333 0.34 0.59 0.21 0.4 0.25 rs16985306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2465 0.6199 0.2984 0.2600 0.0952 0.1982 0.2128 0.2455 0.2414 0.3233 0.6178 0.2780 0.2748 0.0919 0.2023 0.2161 0.2137 het 1652.44 150 2 18768850 . A G 1652.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.784;DP=150;Dels=0.00;FS=3.331;HRun=2;HaplotypeScore=2.5291;MQ=59.07;MQ0=0;MQRankSum=-0.377;QD=11.02;ReadPosRankSum=-0.709;VQSLOD=6.1641;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,69:150:99:1682,0,2211 2 20133221 20133221 C T exonic WDR35 nonsynonymous SNV WDR35:NM_020779:exon22:c.G2599A:p.A867T,WDR35:NM_001006657:exon23:c.G2632A:p.A878T 0.042 0.044 0.04 0.03 0.067 0.028 0.0545 0.0420 0.0265 0.0312 0.0533 0.0697 0.0497 0.0331 0.065 0.037 0.079 0.076 0.066 rs2293669 . . Likely benign|Likely benign Short_Rib_Polydactyly_Syndrome|Cranioectodermal_dysplasia RCV000265624.1|RCV000318447.1 MedGen|MedGen:SNOMED_CT C0036996|CN119432:254093009 . . . . . . 0.06 0.373 T 0.36 0.568 B 0.161 0.500 B 0.000 0.843 D 1 0.810 D 2.78 0.814 M 1.88 0.239 T -2.83 0.597 D 0.273 0.331 -1.148 0.011 T 0.009 0.032 T . . . 5.963 0.819 27.7 0.999 0.969 0.935 0.581 D c 0.376 0.398 1.0 0.983 0.732 0.924 0 5.29 0.743 5.722 0.679 0.935 0.490 1.000 0.715 0.994 0.587 18.270 0.900 . ENSG00000132031.8|ENSG00000132031.8|ENSG00000132031.8|ENSG00000132031.8 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial 0.0527 0.0399 0.0267 0.0481 0.0321 0.0521 0.0721 0.0507 0.0307 0.0532 0.0411 0.0274 0.0430 0.0315 0.0550 0.0637 0.0540 het 1432.21 102 2 20133221 . C T 1432.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.583;DP=102;Dels=0.00;FS=5.004;HRun=0;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;MQRankSum=0.710;QD=14.04;ReadPosRankSum=-1.133;VQSLOD=4.7923;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,61:102:99:1462,0,1093 2 20240668 20240668 C A exonic LAPTM4A synonymous SNV LAPTM4A:NM_014713:exon2:c.G216T:p.S72S 0.17 0.014 0.2 0.31 0.17 0.21 0.1894 0.0400 0.1773 0.2906 0.2854 0.1904 0.1854 0.1965 0.14 0.05 0.19 0.098 0.2 rs3731673 COSM4001467 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1950 0.0372 0.1899 0.0939 0.3036 0.2825 0.1947 0.1742 0.1921 0.1739 0.0421 0.2100 0.0960 0.3335 0.2894 0.2024 0.2301 het 1556.53 143 2 20240668 . C A 1556.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.033;DP=143;Dels=0.00;FS=0.671;HRun=1;HaplotypeScore=1.9552;MQ=59.68;MQ0=0;MQRankSum=-0.969;QD=10.88;ReadPosRankSum=0.689;VQSLOD=6.3285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,63:143:99:1587,0,2016 2 20403794 20403794 A T exonic SDC1 nonsynonymous SNV SDC1:NM_002997:exon3:c.T407A:p.L136Q,SDC1:NM_001006946:exon4:c.T407A:p.L136Q 0.97 0.88 0.99 1. 1. 1. 0.9902 0.8920 0.9959 1 1 0.9998 0.9989 0.9999 0.96 0.9 1. 0.95 0.97 rs10205485 . . . . . . . . . . . . . 0.676 0.056 T 0.0 0.026 B 0.0 0.013 B 0.986 0.079 N 1 0.090 P -1.1 0.010 N 2.25 0.309 T 1.52 0.007 N 0.009 0.343 -0.991 0.323 T 0.000 0.000 T . . . -0.590 0.050 0.132 0.766 0.112 0.006 0.027 N c -1.612 -1.590 1.000 0.489 0.706 0.609 0 -1.31 0.087 -0.542 0.061 -0.511 0.051 0.000 0.063 0.178 0.212 4.529 0.113 . . . 0.9924 0.8917 0.9955 1 1 1 0.9997 0.9956 0.9998 0.9717 0.9002 0.9976 1 1 1 0.9998 0.9980 hom 3716.28 113 2 20403794 . A T 3716.28 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4160;MQ=58.76;MQ0=0;QD=32.89;VQSLOD=5.8642;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3716,292,0 2 20403949 20403949 C T exonic SDC1 synonymous SNV SDC1:NM_002997:exon3:c.G252A:p.E84E,SDC1:NM_001006946:exon4:c.G252A:p.E84E 0.17 0.15 0.24 0.084 0.26 0.16 0.2242 0.1772 0.2144 0.1050 0.2762 0.2541 0.2478 0.1791 0.23 0.17 0.27 0.22 0.11 rs2230924 COSM3749628 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2257 0.1677 0.2095 0.3116 0.1044 0.2751 0.2550 0.2509 0.1808 0.2203 0.1702 0.2151 0.3013 0.0952 0.2552 0.2544 0.2076 het 1974.92 174 2 20403949 . C T 1974.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DP=174;Dels=0.00;FS=2.965;HRun=1;HaplotypeScore=5.7207;MQ=58.80;MQ0=0;MQRankSum=0.331;QD=11.35;ReadPosRankSum=-0.455;VQSLOD=4.8722;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,77:174:99:2005,0,2574 2 20818764 20818764 C T exonic HS1BP3 nonsynonymous SNV HS1BP3:NM_022460:exon7:c.G1162A:p.A388T 0.15 0.12 0.14 0.091 0.2 0.19 0.1856 0.1339 0.1375 0.0893 0.1864 0.2087 0.1941 0.2097 0.18 0.14 0.21 0.14 0.18 rs3732149 COSM3757916 1(large_intestine) . . . . . . . . . . . 0.653 0.048 T 0.008 0.135 B 0.003 0.080 B 0.616 0.108 N 1 0.090 P 0.485 0.132 N 2.09 0.201 T 0.02 0.068 N 0.012 0.001 -0.949 0.412 T 0.000 0.000 T . . . -0.728 0.044 0.062 0.659 0.077 0.027 0.072 N c -1.420 -1.458 1.000 0.517 0.615 0.372 0 -1.71 0.077 -1.544 0.023 -2.661 0.002 0.000 0.063 0.001 0.043 5.725 0.172 . . . 0.1832 0.1319 0.1417 0.1844 0.0901 0.1805 0.2125 0.1711 0.2044 0.1699 0.1303 0.1444 0.1821 0.0852 0.1737 0.2023 0.1742 het 823.38 77 2 20818764 . C T 823.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.901;DP=77;Dels=0.00;FS=10.718;HRun=0;HaplotypeScore=2.9821;MQ=59.70;MQ0=0;MQRankSum=-1.574;QD=10.69;ReadPosRankSum=0.887;VQSLOD=3.6678;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,38:77:99:853,0,853 2 20823724 20823724 T C exonic HS1BP3 synonymous SNV HS1BP3:NM_022460:exon6:c.A852G:p.P284P 1. 0.99 1. 1. 1. 1. 0.9984 0.9829 0.9991 0.9999 1 1.0000 0.9989 0.9999 0.99 0.98 1. 1. 0.79 rs6531248 COSM4133403 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9833 0.9994 0.9999 0.9998 1 1.0000 0.9996 0.9999 0.9954 0.9839 0.9988 1 1 1 1 0.9990 hom 1021.57 35 2 20823724 . T C 1021.57 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.19;VQSLOD=13.1614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:87.25:1055,87,0 2 20824498 20824498 C T exonic HS1BP3 nonsynonymous SNV HS1BP3:NM_022460:exon5:c.G778A:p.V260M 0.38 0.31 0.41 0.27 0.57 0.37 0.4873 0.3320 0.3889 0.2770 0.5232 0.5671 0.4718 0.4244 0.5 0.33 0.58 0.32 0.61 rs2305458 COSM4133404 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) . . . . . . . . . . . 0.115 0.285 T 0.004 0.112 B 0.002 0.063 B 0.001 0.007 N 1 0.090 P -0.345 0.033 N 2.28 0.307 T 0.1 0.073 N 0.035 0.267 -0.977 0.358 T 0.000 0.000 T . . . -0.389 0.062 0.412 0.768 0.112 0.001 0.004 N c -2.282 -2.338 1.000 0.747 0.706 0.609 0 -8.76 0.007 -2.324 0.012 -0.721 0.036 0.000 0.063 0.000 0.016 5.935 0.183 . ENSG00000118960.8 Adipose_Subcutaneous 0.4856 0.3257 0.4012 0.5375 0.2794 0.5213 0.5736 0.5081 0.4009 0.4672 0.3258 0.4010 0.5364 0.2670 0.5149 0.5602 0.4938 het 1201.09 90 2 20824498 . C T 1201.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.063;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=-0.699;QD=13.35;ReadPosRankSum=-0.459;VQSLOD=6.8796;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,50:90:99:1231,0,988 2 20824559 20824559 C T exonic HS1BP3 synonymous SNV HS1BP3:NM_022460:exon5:c.G717A:p.E239E 0.28 0.033 0.37 0.49 0.26 0.33 0.2916 0.0619 0.3850 0.4979 0.3178 0.2709 0.3040 0.3347 0.2 0.074 0.26 0.34 0.13 rs2305457 COSM4133405 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3003 0.0566 0.3825 0.3405 0.4956 0.3169 0.2631 0.3092 0.3318 0.2330 0.0678 0.3854 0.3079 0.4950 0.3248 0.2643 0.3111 het 811.99 80 2 20824559 . C T 811.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.870;DP=80;Dels=0.00;FS=3.116;HRun=1;HaplotypeScore=1.6647;MQ=59.71;MQ0=0;MQRankSum=0.939;QD=10.15;ReadPosRankSum=0.015;VQSLOD=6.4897;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,30:80:99:842,0,1440 2 20838222 20838222 C T exonic HS1BP3 synonymous SNV HS1BP3:NM_022460:exon4:c.G597A:p.E199E 0.14 0.098 0.13 0.096 0.19 0.18 0.1723 0.1111 0.1298 0.0900 0.1689 0.1953 0.1744 0.1919 0.17 0.12 0.2 0.13 0.18 rs3796065 COSM3757917 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1719 0.1093 0.1343 0.1875 0.0911 0.1657 0.1994 0.1609 0.1915 0.1557 0.1088 0.1408 0.1821 0.0832 0.1518 0.1916 0.1643 het 1057.05 91 2 20838222 . C T 1057.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.185;DP=91;Dels=0.00;FS=1.794;HRun=1;HaplotypeScore=2.8888;MQ=58.52;MQ0=0;MQRankSum=-0.267;QD=11.62;ReadPosRankSum=1.137;VQSLOD=5.5603;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,45:91:99:1087,0,1169 2 20838318 20838318 G A exonic HS1BP3 synonymous SNV HS1BP3:NM_022460:exon4:c.C501T:p.F167F 0.36 0.23 0.31 0.56 0.28 0.45 0.3160 0.2230 0.3005 0.5572 0.2892 0.2722 0.3282 0.4465 0.25 0.22 0.26 0.37 0.14 rs3796064 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3171 0.2227 0.3101 0.3035 0.5521 0.2894 0.2690 0.3131 0.4397 0.2813 0.2330 0.3210 0.3079 0.5426 0.3017 0.2711 0.3198 het 1133.29 87 2 20838318 . G A 1133.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.748;DP=87;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.5442;MQ=59.09;MQ0=0;MQRankSum=0.429;QD=13.03;ReadPosRankSum=1.363;VQSLOD=6.3995;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,44:87:99:1163,0,1143 2 20974586 20974586 C T exonic LDAH nonsynonymous SNV LDAH:NM_001282722:exon2:c.G62A:p.R21Q,LDAH:NM_001282719:exon3:c.G326A:p.R109Q,LDAH:NM_001282720:exon3:c.G308A:p.R103Q,LDAH:NM_001282721:exon3:c.G62A:p.R21Q,LDAH:NM_001282724:exon3:c.G326A:p.R109Q,LDAH:NM_001282723:exon4:c.G452A:p.R151Q,LDAH:NM_021925:exon4:c.G452A:p.R151Q 0.004 0.0008 0.0043 . 0.016 . 0.0088 0.0020 0.0019 0.0001 0.0281 0.0124 0.0077 0 0.0062 0.0023 0.0083 . 0.0082 rs114010802 . . . . . . . . . . . . . 0.054 0.424 T 0.857 0.453 P 0.176 0.357 B 0.176 0.172 N 0.999 0.237 N 1.93 0.516 L 0.86 0.717 T -1.26 0.471 N 0.066 0.206 -0.927 0.445 T 0.091 0.349 T . . . 1.487 0.241 13.25 0.972 0.324 0.053 0.111 N c -1.041 -1.201 0.001 0.082 0.707 0.730 0 -5.05 0.027 -0.341 0.078 -0.537 0.048 0.000 0.063 0.020 0.134 5.737 0.172 Alpha/Beta hydrolase fold . . 0.0085 0.0022 0.0028 0.0003 5.798e-05 0.0269 0.0120 0.0064 0.0001 0.0092 0.0027 0.0036 0 0 0.0235 0.0110 0.0102 het 2476.83 225 2 20974586 . C T 2476.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.678;DP=225;Dels=0.00;FS=5.551;HRun=1;HaplotypeScore=7.2651;MQ=58.83;MQ0=0;MQRankSum=0.332;QD=11.01;ReadPosRankSum=-1.258;VQSLOD=4.1284;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:126,99:225:99:2507,0,3125 2 21225281 21225281 C T exonic APOB nonsynonymous SNV APOB:NM_000384:exon29:c.G13013A:p.S4338N 0.63 0.88 0.75 0.28 0.78 0.42 0.7057 0.8460 0.7270 0.2804 0.7312 0.7867 0.7092 0.4878 0.8 0.84 0.78 0.75 0.61 rs1042034 COSM4001491 2(haematopoietic_and_lymphoid_tissue);1(pancreas) other|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000116382.4|RCV000256262.2|RCV000284555.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 Triglycerides . -5.99 20686565 rs1042034 1E-45 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.669 0.060 N 1 0.090 P -2.005 0.002 N 1.25 0.365 T 1.2 0.011 N 0.006 0.002 -0.975 0.362 T 0.000 0.000 T . . . -1.281 0.023 0.005 0.149 0.003 0.015 0.050 N c -1.583 -1.462 0.899 0.260 0.487 0.133 0 1.61 0.226 0.587 0.234 -0.000 0.135 0.003 0.159 0.002 0.062 5.789 0.175 Armadillo-type fold . . 0.7055 0.8508 0.7406 0.8036 0.2733 0.7353 0.7852 0.7282 0.4861 0.7647 0.8537 0.7835 0.8576 0.2640 0.7441 0.7720 0.7118 hom 1101.37 33 2 21225281 . C T 1101.37 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=33.37;VQSLOD=9.3761;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:90.28:1134,90,0 2 21225753 21225753 C T exonic APOB nonsynonymous SNV APOB:NM_000384:exon29:c.G12541A:p.E4181K 0.13 0.16 0.12 0.045 0.21 0.087 0.1530 0.1567 0.1115 0.0502 0.2192 0.1793 0.1468 0.1006 0.17 0.15 0.18 0.13 0.15 rs1042031 COSM3746534 5(soft_tissue);1(liver) other|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000116381.4|RCV000256314.2|RCV000268700.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . 0.259 0.166 T 0.012 0.151 B 0.009 0.133 B 0.494 0.120 N 1 0.090 P 1.15 0.294 L 5.76 0.007 T -1.45 0.356 N 0.038 0.044 -0.988 0.331 T 0.000 0.000 T . . . -0.102 0.084 1.713 0.916 0.203 0.237 0.219 N c -1.135 -1.142 1.000 0.441 0.487 0.133 0 0.147 0.141 -0.151 0.101 -0.404 0.062 0.000 0.063 0.040 0.157 5.434 0.157 . . . 0.1536 0.1544 0.1218 0.1477 0.0488 0.2107 0.1820 0.1629 0.1025 0.1698 0.1536 0.1615 0.1656 0.0392 0.2053 0.1862 0.1592 het 841.81 76 2 21225753 . C T 841.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.486;DP=76;Dels=0.00;FS=0.943;HRun=2;HaplotypeScore=0.9832;MQ=58.84;MQ0=0;MQRankSum=1.353;QD=11.08;ReadPosRankSum=0.275;VQSLOD=6.4612;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,31:76:99:872,0,1277 2 21232195 21232195 G A exonic APOB synonymous SNV APOB:NM_000384:exon26:c.C7545T:p.T2515T 0.25 0.21 0.38 0.061 0.44 0.22 0.3899 0.2245 0.3734 0.0535 0.3901 0.4926 0.4064 0.2661 0.41 0.25 0.5 0.32 0.48 rs693 COSM4133426 2(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Likely benign|Likely benign not_specified|Familial_hypobetalipoproteinemia|Familial_hypercholesterolemia RCV000116389.4|RCV000274903.1|RCV000388049.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT:SNOMED_CT CN169374|C1862596:ORPHA426:60193003|C0020445:143890:397915002:398036000 Triglycerides . . 17463246 rs693 7E-7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3893 0.2166 0.3800 0.3469 0.0571 0.4038 0.5010 0.4048 0.2670 0.3797 0.2297 0.3911 0.42 0.0484 0.4109 0.4908 0.4296 het 724.02 87 2 21232195 . G A 724.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.138;DP=87;Dels=0.00;FS=0.852;HRun=0;HaplotypeScore=0.9989;MQ=59.04;MQ0=0;MQRankSum=0.717;QD=8.32;ReadPosRankSum=-0.744;VQSLOD=6.2970;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,32:87:99:754,0,1563 2 21232803 21232803 T C exonic APOB nonsynonymous SNV APOB:NM_000384:exon26:c.A6937G:p.I2313V 0.99 0.95 1. 1. 1. 1. 0.9950 0.9486 0.9976 0.9994 1 0.9996 0.9956 0.9997 0.98 0.95 1. 0.69 0.99 rs584542 . . Benign|Benign Hypercholesterolemia\x2c_autosomal_dominant\x2c_type_B|Hypobetalipoproteinemia\x2c_familial\x2c_1 RCV000475274.1|RCV000475274.1 MedGen:OMIM|MedGen:OMIM C1704417:144010|CN182502:615558 . . . . . . 0.626 0.052 T 0.002 0.090 B 0.003 0.080 B 0.262 0.153 N 1 0.090 P 1.465 0.370 L 5.78 0.007 T -0.11 0.087 N 0.009 0.054 -0.985 0.339 T 0.000 0.000 T . . . -4.107 0.000 0.001 0.195 0.007 0.166 0.193 N c -1.960 -1.976 1.000 0.517 0.487 0.133 0 -3.8 0.040 -0.238 0.089 -1.573 0.009 0.000 0.063 0.005 0.090 5.845 0.178 . . . 0.9959 0.9467 0.9971 0.9999 0.9991 1 0.9995 0.9980 0.9995 0.9842 0.9457 0.9976 1 0.9981 1 0.9996 0.9969 hom 2978.37 93 2 21232803 . T C 2978.37 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8317;MQ=59.30;MQ0=0;QD=32.03;VQSLOD=9.0978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3011,244,0 2 21232804 21232804 G A exonic APOB synonymous SNV APOB:NM_000384:exon26:c.C6936T:p.D2312D 0.25 0.21 0.38 0.061 0.44 0.21 0.3891 0.2244 0.3735 0.0533 0.3897 0.4929 0.4073 0.2595 0.4 0.23 0.48 . 0.48 rs1041968 COSM3933524 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) other|Likely benign|Likely benign not_specified|Familial_hypobetalipoproteinemia|Familial_hypercholesterolemia RCV000116388.4|RCV000283635.1|RCV000392137.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT:SNOMED_CT CN169374|C1862596:ORPHA426:60193003|C0020445:143890:397915002:398036000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3886 0.2165 0.3797 0.3469 0.0567 0.4038 0.5014 0.4054 0.2614 0.3800 0.2301 0.3909 0.4238 0.0484 0.4110 0.4909 0.4283 het 1099.43 90 2 21232804 . G A 1099.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.527;DP=90;Dels=0.00;FS=2.819;HRun=0;HaplotypeScore=1.8317;MQ=59.27;MQ0=0;MQRankSum=0.323;QD=12.22;ReadPosRankSum=0.113;VQSLOD=6.4941;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,43:90:99:1129,0,1270 2 21235475 21235475 T C exonic APOB nonsynonymous SNV APOB:NM_000384:exon26:c.A4265G:p.Y1422C 1. 1. 1. 1. 1. 1. 0.9999 0.9999 0.9998 1 1 0.9998 1 1 1. 1. 1. 1. 1. rs568413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9998 0.9999 0.9999 1 1 0.9998 0.9998 0.9999 0.9997 0.9997 1 1 1 1 0.9997 0.9990 hom 2570.69 83 2 21235475 . T C 2570.69 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=30.97;VQSLOD=9.0435;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:83:99:2604,199,0 2 21249716 21249716 C T exonic APOB nonsynonymous SNV APOB:NM_000384:exon15:c.G2188A:p.V730I 0.014 0.0008 0.022 . 0.054 0.001 0.0250 0.0060 0.0168 0 0.0413 0.0364 0.0243 0.0035 0.025 0.0066 0.035 0.011 0.016 rs12691202 . . other|other|Benign|Benign not_specified|Familial_hypercholesterolemia|Hypercholesterolemia\x2c_autosomal_dominant\x2c_type_B|Hypobetalipoproteinemia\x2c_familial\x2c_1 RCV000116385.4|RCV000202719.2|RCV000470775.1|RCV000470775.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:OMIM|MedGen:OMIM CN169374|C0020445:143890:397915002:398036000|C1704417:144010|CN182502:615558 . . . . . . 0.157 0.240 T 0.568 0.366 P 0.214 0.358 B 0.009 0.305 N 0.982 0.398 D 2.34 0.674 M 2.16 0.192 T -0.42 0.158 N 0.022 0.040 -1.135 0.015 T 0.013 0.051 T . . . 2.633 0.378 20.4 0.995 0.699 0.947 0.619 D c 0.146 0.169 1.000 0.473 0.554 0.246 0 3.89 0.439 1.039 0.297 0.935 0.490 0.515 0.268 0.989 0.536 12.403 0.546 Lipid transport protein\x2c beta-sheet shell|Vitellinogen\x2c open beta-sheet . . 0.0271 0.0055 0.0238 0.0505 0 0.0473 0.0356 0.0290 0.0039 0.0247 0.0054 0.0382 0.0662 0.0006 0.0458 0.0313 0.0346 het 1321.94 118 2 21249716 . C T 1321.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.939;DP=118;Dels=0.00;FS=0.693;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=0.889;QD=11.20;ReadPosRankSum=-1.477;VQSLOD=5.8008;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,54:118:99:1352,0,1704 2 21250914 21250914 G A exonic APOB nonsynonymous SNV APOB:NM_000384:exon14:c.C1853T:p.A618V 0.48 0.13 0.39 0.86 0.47 0.65 0.4857 0.1672 0.3944 0.8565 0.5710 0.4628 0.4956 0.6130 0.37 0.18 0.46 0.4 0.44 rs679899 . . other|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000116384.4|RCV000256290.2|RCV000295735.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . 0.005 0.632 D 1.0 0.899 D 0.998 0.875 D 0.000 0.537 D 0.000 0.548 P 2.695 0.791 M -0.62 0.719 T -1.96 0.609 N 0.351 0.782 -0.928 0.445 T 0.000 0.000 T . . . 5.620 0.765 26.6 0.999 0.978 0.972 0.733 D c 0.802 0.794 1.000 0.747 0.497 0.185 0 5.73 0.897 6.746 0.745 1.048 0.713 1.000 0.715 0.712 0.312 20.289 0.985 Lipid transport protein\x2c N-terminal|Vitellinogen\x2c superhelical . . 0.4902 0.1640 0.3951 0.3776 0.8512 0.5678 0.4691 0.4704 0.6140 0.4190 0.1710 0.3926 0.3576 0.8424 0.5479 0.4846 0.5061 hom 5117.90 173 2 21250914 . G A 5117.90 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;QD=29.58;VQSLOD=9.0297;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:173:99:5117,406,0 2 24108652 24108652 T C exonic ATAD2B nonsynonymous SNV ATAD2B:NM_001242338:exon5:c.A620G:p.Q207R,ATAD2B:NM_017552:exon5:c.A620G:p.Q207R 1. 1. 1. 1. 1. 1. 0.9998 0.9982 1 1 1 1 1 1 1. 1. 1. 1. . rs7579201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9985 1 1 1 1 1 0.9996 1 0.9995 0.9981 1 1 1 1 1 1 hom 842.85 30 2 24108652 . T C 842.85 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=28.10;VQSLOD=7.9318;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:69.20:876,69,0 2 24905927 24905927 G C exonic NCOA1 synonymous SNV NCOA1:NM_003743:exon6:c.G462C:p.T154T,NCOA1:NM_147223:exon6:c.G462C:p.T154T,NCOA1:NM_147233:exon6:c.G462C:p.T154T 0.81 0.52 0.91 1. 0.9 0.83 0.8689 0.5656 0.9495 0.9929 0.9099 0.8914 0.8987 0.8284 0.79 0.57 0.9 0.76 0.87 rs11125744 COSM4133739;COSM4133740 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8801 0.5587 0.9423 0.9115 0.9936 0.9094 0.8927 0.8978 0.8288 0.8160 0.5729 0.9306 0.9040 0.9957 0.9123 0.9034 0.8724 hom 2237.02 73 2 24905927 . G C 2237.02 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=58.24;MQ0=0;QD=30.64;VQSLOD=8.2031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:73:99:2270,175,0 2 24974945 24974945 T G exonic NCOA1 synonymous SNV NCOA1:NM_003743:exon18:c.T3801G:p.L1267L,NCOA1:NM_147223:exon18:c.T3801G:p.L1267L,NCOA1:NM_147233:exon18:c.T3801G:p.L1267L 0.84 0.63 0.92 1. 0.9 0.83 0.8784 0.6562 0.9550 0.9930 0.9100 0.8921 0.9053 0.8354 0.82 0.67 0.9 0.81 0.89 rs11125763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8887 0.6568 0.9480 0.9120 0.9935 0.9093 0.8935 0.9063 0.8377 0.8444 0.6732 0.9368 0.9040 0.9957 0.9118 0.9033 0.8763 hom 3572.71 110 2 24974945 . T G 3572.71 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.41;MQ0=0;QD=32.48;VQSLOD=9.8838;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3572,271,0 2 25022598 25022598 A G exonic CENPO nonsynonymous SNV CENPO:NM_001199803:exon2:c.A83G:p.Q28R,CENPO:NM_001322101:exon3:c.A101G:p.Q34R,CENPO:NM_024322:exon3:c.A101G:p.Q34R 0.13 0.11 0.11 0.21 0.15 0.086 0.1321 0.1023 0.0889 0.2174 0.1444 0.1390 0.1399 0.1033 0.14 0.11 0.15 0.15 0.16 rs1550116 . . . . . . . . . . . . . 0.466 0.086 T 0.0 0.026 B 0.0 0.013 B 0.717 0.100 N 1 0.090 P -1.24 0.008 N 0.92 0.445 T 0.25 0.045 N 0.007 0.000 -1.010 0.269 T 0.000 0.000 T . . . -2.402 0.004 0.001 0.195 0.007 0.017 0.053 N c -1.518 -1.537 0.922 0.267 0.719 0.830 0 -3.63 0.042 0.362 0.199 -0.129 0.111 0.000 0.063 0.008 0.104 6.535 0.214 . ENSG00000084676.11|ENSG00000138031.10 Thyroid|Whole_Blood 0.1341 0.0968 0.0962 0.1185 0.2154 0.1468 0.1447 0.1353 0.1058 0.1301 0.1000 0.0839 0.0695 0.2098 0.1476 0.1381 0.1388 het 1174.93 97 2 25022598 . A G 1174.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.857;DP=97;Dels=0.00;FS=3.862;HRun=1;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;MQRankSum=-1.371;QD=12.11;ReadPosRankSum=-2.952;VQSLOD=4.4017;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1205,0,1529 2 25046090 25046090 T C exonic ADCY3 synonymous SNV ADCY3:NM_001320613:exon18:c.A2874G:p.S958S,ADCY3:NM_004036:exon18:c.A2871G:p.S957S 0.69 0.53 0.77 0.88 0.67 0.69 0.6808 0.5345 0.8634 0.8577 0.6552 0.6530 0.7086 0.6738 0.63 0.55 0.67 0.63 0.63 rs1127568 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6939 0.5326 0.8489 0.6600 0.8535 0.6589 0.6599 0.7018 0.6744 0.6390 0.5317 0.8126 0.6722 0.875 0.6434 0.6640 0.6477 het 1328.38 88 2 25046090 . T C 1328.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.696;DP=88;Dels=0.00;FS=8.727;HRun=1;HaplotypeScore=0.8321;MQ=59.48;MQ0=0;MQRankSum=0.689;QD=15.10;ReadPosRankSum=-1.184;VQSLOD=4.5708;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,49:88:99:1358,0,1122 2 25050977 25050977 T C exonic ADCY3 synonymous SNV ADCY3:NM_001320613:exon14:c.A2226G:p.E742E,ADCY3:NM_004036:exon14:c.A2226G:p.E742E 0.66 0.41 0.77 0.88 0.67 0.68 0.6712 0.4250 0.8591 0.8567 0.6553 0.6536 0.7025 0.6727 0.59 0.44 0.67 0.6 0.53 rs7566416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6864 0.4186 0.8441 0.6428 0.8528 0.6587 0.6619 0.6986 0.6741 0.6075 0.4152 0.8086 0.6623 0.8725 0.6441 0.6674 0.6426 het 697.20 50 2 25050977 . T C 697.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.000;DP=50;Dels=0.00;FS=2.606;HRun=0;HaplotypeScore=8.8471;MQ=59.07;MQ0=0;MQRankSum=-0.126;QD=13.94;ReadPosRankSum=-0.204;VQSLOD=4.3016;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:727,0,667 2 25064157 25064157 G C exonic ADCY3 synonymous SNV ADCY3:NM_001320613:exon6:c.C1167G:p.L389L,ADCY3:NM_004036:exon6:c.C1167G:p.L389L 0.071 0.003 0.21 0.1 0.086 0.015 0.1068 0.0220 0.3937 0.1758 0.2015 0.1303 0.1281 0.0261 0.055 0.02 0.072 0.033 0.082 rs2241758 COSM3766566 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0929 0.0136 0.2626 0.0713 0.0888 0.0745 0.0743 0.0954 0.0222 0.0661 0.0195 0.2363 0.0430 0.0944 0.0842 0.0752 0.0920 het 134.16 12 2 25064157 . G C 134.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.779;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.63;MQ0=0;MQRankSum=-0.467;QD=11.18;ReadPosRankSum=-0.259;VQSLOD=5.9428;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:164,0,168 2 25141434 25141434 G A exonic ADCY3 synonymous SNV ADCY3:NM_001320613:exon2:c.C423T:p.Y141Y,ADCY3:NM_004036:exon2:c.C423T:p.Y141Y 0.1 0.22 0.086 0.045 0.084 0.03 0.0775 0.2082 0.0441 0.0353 0.0413 0.0830 0.0717 0.0328 0.13 0.21 0.091 0.076 0.17 rs61732745 COSM3758150 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0754 0.2144 0.0513 0.0692 0.0351 0.0438 0.0885 0.0772 0.0326 0.1177 0.2195 0.0561 0.0497 0.0383 0.0412 0.0918 0.0859 het 1536.72 117 2 25141434 . G A 1536.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.276;DP=117;Dels=0.00;FS=0.692;HRun=0;HaplotypeScore=2.7856;MQ=59.64;MQ0=0;MQRankSum=1.022;QD=13.13;ReadPosRankSum=0.935;VQSLOD=6.1138;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,59:117:99:1567,0,1583 2 25141538 25141538 A G exonic ADCY3 nonsynonymous SNV ADCY3:NM_001320613:exon2:c.T319C:p.S107P,ADCY3:NM_004036:exon2:c.T319C:p.S107P 0.57 0.91 0.39 0.43 0.46 0.47 0.4798 0.8526 0.3080 0.4337 0.4170 0.4634 0.4603 0.4813 0.6 0.84 0.47 0.56 0.56 rs11676272 COSM4133745 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.183 T 0.0 0.026 B 0.0 0.013 B 0.066 0.219 N 1 0.090 P 0 0.065 N -1.4 0.805 T 0.42 0.034 N 0.1 0.531 -0.994 0.315 T 0.000 0.000 T . . . -0.180 0.078 1.207 0.089 0.001 0.149 0.184 N c -0.982 -0.870 1.000 0.747 0.644 0.439 0 2.94 0.330 1.330 0.332 0.076 0.183 0.840 0.300 0.236 0.225 4.925 0.131 Adenylate cyclase\x2c N-terminal ENSG00000271936.1|ENSG00000138031.10|ENSG00000271936.1|ENSG00000138031.10|ENSG00000224165.1|ENSG00000271936.1|ENSG00000138031.10|ENSG00000224165.1|ENSG00000271936.1|ENSG00000138031.10|ENSG00000115137.7 Artery_Tibial|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Whole_Blood|Whole_Blood|Whole_Blood 0.4657 0.8600 0.3159 0.4044 0.4304 0.4262 0.4718 0.4415 0.4834 0.5615 0.8476 0.3266 0.3675 0.4095 0.4042 0.4697 0.4867 het 2178.38 154 2 25141538 . A G 2178.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.448;DP=154;Dels=0.00;FS=2.924;HRun=3;HaplotypeScore=2.7702;MQ=59.76;MQ0=0;MQRankSum=-1.026;QD=14.15;ReadPosRankSum=0.626;VQSLOD=6.0080;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,86:154:99:2208,0,1760 2 25194741 25194741 G A exonic DNAJC27 synonymous SNV DNAJC27:NM_001198559:exon1:c.C33T:p.P11P,DNAJC27:NM_016544:exon1:c.C33T:p.P11P 0.71 0.63 0.86 0.74 0.79 0.61 0.7508 0.6706 0.8456 0.7467 0.7538 0.7718 0.7690 0.6490 0.74 0.67 0.77 0.73 0.79 rs7593864 COSM1162609;COSM4133746 1(pancreas);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7522 0.6644 0.8475 0.8187 0.7319 0.7388 0.7663 0.7795 0.6355 0.7363 0.6547 0.8329 0.8411 0.7506 0.7580 0.7701 0.7270 hom 1449.35 51 2 25194741 . G A 1449.35 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.46;MQ0=0;QD=28.42;VQSLOD=8.1270;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1482,111,0 2 25655772 25655772 T C exonic DTNB synonymous SNV DTNB:NM_001320935:exon12:c.A828G:p.A276A,DTNB:NM_001351381:exon12:c.A909G:p.A303A,DTNB:NM_001351392:exon12:c.A909G:p.A303A,DTNB:NM_001351393:exon12:c.A909G:p.A303A,DTNB:NM_001256308:exon13:c.A1269G:p.A423A,DTNB:NM_001320932:exon13:c.A828G:p.A276A,DTNB:NM_001320933:exon13:c.A1350G:p.A450A,DTNB:NM_001320934:exon13:c.A1350G:p.A450A,DTNB:NM_001351382:exon13:c.A1350G:p.A450A,DTNB:NM_001351383:exon13:c.A1350G:p.A450A,DTNB:NM_001351385:exon13:c.A1350G:p.A450A,DTNB:NM_001351386:exon13:c.A1350G:p.A450A,DTNB:NM_001351387:exon13:c.A1350G:p.A450A,DTNB:NM_001351389:exon13:c.A1350G:p.A450A,DTNB:NM_001351390:exon13:c.A1350G:p.A450A,DTNB:NM_001351391:exon13:c.A1350G:p.A450A,DTNB:NM_033148:exon13:c.A1350G:p.A450A,DTNB:NM_183361:exon13:c.A1350G:p.A450A,DTNB:NM_001256303:exon14:c.A1440G:p.A480A,DTNB:NM_001256304:exon14:c.A1440G:p.A480A,DTNB:NM_001320936:exon14:c.A1440G:p.A480A,DTNB:NM_001351384:exon14:c.A1440G:p.A480A,DTNB:NM_001351388:exon14:c.A1440G:p.A480A,DTNB:NM_001351394:exon14:c.A1440G:p.A480A,DTNB:NM_021907:exon14:c.A1440G:p.A480A,DTNB:NM_033147:exon14:c.A1440G:p.A480A,DTNB:NM_183360:exon14:c.A1440G:p.A480A,DTNB:NM_001351395:exon15:c.A525G:p.A175A 0.24 0.33 0.21 0.005 0.35 0.27 0.3467 0.3856 0.2212 0.0086 0.3762 0.4038 0.3167 0.2859 0.33 0.32 0.33 0.22 . rs7583475 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2693 0.3359 0.1409 0.2992 0.0025 0.3140 0.3392 0.2768 0.2437 0.3171 0.3357 0.1683 0.3411 0.0006 0.3203 0.3477 0.3139 het 370.02 20 2 25655772 . T C 370.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.475;DP=20;Dels=0.00;FS=5.379;HRun=1;HaplotypeScore=0.0000;MQ=56.68;MQ0=0;MQRankSum=0.317;QD=18.50;ReadPosRankSum=-0.158;VQSLOD=3.1079;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,13:20:99:400,0,178 2 26203678 26203678 T C exonic KIF3C nonsynonymous SNV KIF3C:NM_002254:exon1:c.A1109G:p.Q370R 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 0.9999 1 1 1. 1. 1. 1. 1. rs1465878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 0.9999 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 4649.25 147 2 26203678 . T C 4649.25 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=58.73;MQ0=0;QD=31.63;VQSLOD=9.7537;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4648,379,0 2 26477125 26477125 - ACT exonic HADHB nonframeshift insertion HADHB:NM_000183:exon2:c.3_4insACT:p.T2_I3insT,HADHB:NM_001281512:exon2:c.3_4insACT:p.T2_I3insT 0.71 0.88 0.68 0.18 0.92 0.83 0.8315 0.8789 0.6033 0.1803 0.9385 0.9339 0.8731 0.8447 0.91 0.88 0.93 0.011 . rs59947000 COSM4603193 19(upper_aerodigestive_tract);6(central_nervous_system) Benign|not provided|Benign not_specified|not_provided|Mitochondrial_trifunctional_protein_deficiency RCV000078340.5|RCV000144492.1|RCV000270663.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN221809|C0342786:609015:237999008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8217 0.8782 0.6167 0.9069 0.1769 0.9382 0.9356 0.8650 0.8457 0.8682 0.8718 0.6571 0.9272 0.1704 0.9358 0.9327 0.9173 hom 8679.95 144 2 26477125 . G GACT 8679.95 Mask AC=2;AF=1.00;AN=2;DP=144;FS=0.000;HRun=0;HaplotypeScore=407.0423;MQ=56.25;MQ0=0;QD=59.86;set=variant2 GT:AD:DP:GQ:PL 1/1:16,127:144:99:8680,398,0 2 26534801 26534801 G A exonic ADGRF3 nonsynonymous SNV ADGRF3:NM_153835:exon8:c.C1198T:p.H400Y,ADGRF3:NM_001145169:exon10:c.C1588T:p.H530Y,ADGRF3:NM_001321971:exon10:c.C1591T:p.H531Y,ADGRF3:NM_001145168:exon11:c.C1795T:p.H599Y,ADGRF3:NM_001321975:exon11:c.C604T:p.H202Y 0.67 0.62 0.72 0.75 0.7 0.59 0.6956 0.6349 0.7104 0.7858 0.7042 0.7109 0.6925 0.6113 0.68 0.63 0.71 0.62 . rs7568529 COSM4133755;COSM4133754 1(thyroid) . . . . . . . . . . . 0.079 0.337 T 0.008 0.151 B 0.071 0.265 B . . . 1 0.090 P 2.125 0.592 M 2.96 0.096 T -2.74 0.582 D 0.059 0.140 -0.968 0.377 T 0.000 0.000 T . . . 2.684 0.384 20.7 0.977 0.347 0.134 0.177 N c -0.430 -0.398 0.999 0.398 0.554 0.246 0 5.18 0.710 2.681 0.463 1.048 0.713 0.163 0.236 0.004 0.083 9.522 0.381 . ENSG00000173567.10|ENSG00000138018.13|ENSG00000173567.10|ENSG00000084754.6 Cells_Transformed_fibroblasts|Muscle_Skeletal|Pancreas|Testis 0.6968 0.6327 0.7104 0.6196 0.7856 0.7054 0.7147 0.6972 0.6189 0.6897 0.6284 0.7055 0.6093 0.7854 0.6968 0.7129 0.7086 hom 2495.62 81 2 26534801 . G A 2495.62 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.1790;MQ=59.31;MQ0=0;QD=30.81;VQSLOD=9.2161;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2529,211,0 2 26536694 26536694 C T exonic ADGRF3 nonsynonymous SNV ADGRF3:NM_153835:exon5:c.G613A:p.A205T,ADGRF3:NM_001145169:exon7:c.G1003A:p.A335T,ADGRF3:NM_001321971:exon7:c.G1006A:p.A336T,ADGRF3:NM_001145168:exon8:c.G1210A:p.A404T,ADGRF3:NM_001321975:exon8:c.G19A:p.A7T 0.66 0.7 0.71 0.67 0.69 0.55 0.6759 0.6807 0.7115 0.7216 0.6824 0.6928 0.6549 0.5545 0.69 0.68 0.7 0.63 . rs2052937 COSM4133758;COSM4133759 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.221 B 0.0 0.121 B . . . 1 0.090 P -1.87 0.003 N 3.25 0.068 T 1.03 0.014 N 0.025 0.051 -0.966 0.380 T 0.000 0.000 T . . . 0.140 0.107 4.035 0.637 0.071 0.000 0.003 N c -1.389 -1.244 0.988 0.314 0.554 0.246 0 3.47 0.387 0.585 0.234 0.154 0.240 0.049 0.212 0.216 0.221 6.858 0.231 . ENSG00000173567.10|ENSG00000138018.13|ENSG00000173567.10 Cells_Transformed_fibroblasts|Muscle_Skeletal|Pancreas 0.6769 0.6883 0.7104 0.5935 0.7171 0.6838 0.6980 0.6762 0.5581 0.6911 0.6862 0.7043 0.5828 0.7079 0.6740 0.6985 0.6769 hom 2751.40 91 2 26536694 . C T 2751.40 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=59.80;MQ0=0;QD=30.24;VQSLOD=9.0300;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2784,238,0 2 26607992 26607992 T C exonic SELENOI unknown UNKNOWN 0.94 0.9 0.98 0.89 0.97 0.98 0.9629 0.9080 0.9806 0.8929 0.9823 0.9699 0.9637 0.9833 0.95 0.91 0.97 0.91 . rs934280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9648 0.9074 0.9816 0.9728 0.8888 0.9824 0.9706 0.9600 0.9843 0.9496 0.9054 0.9714 0.9768 0.8875 0.9797 0.9721 0.9683 hom 623.26 20 2 26607992 . T C 623.26 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=31.16;VQSLOD=9.2526;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:51.16:656,51,0 2 26647277 26647277 T G exonic DRC1 synonymous SNV DRC1:NM_145038:exon4:c.T495G:p.A165A 0.62 0.51 0.66 0.33 0.88 0.78 0.7771 0.5519 0.5857 0.3044 0.9266 0.8899 0.8146 0.7814 0.79 0.58 0.89 0.58 0.79 rs7423300 COSM4001625 4(haematopoietic_and_lymphoid_tissue) Uncertain significance\x2cBenign Primary_ciliary_dyskinesia\x2cnot_specified RCV000234781.1\x2cRCV000253512.1 MedGen:Orphanet\x2cMedGen C0008780:ORPHA244\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7759 0.5523 0.5981 0.8570 0.3024 0.9285 0.8920 0.8179 0.7817 0.7619 0.5588 0.6463 0.8676 0.2767 0.9255 0.8903 0.8768 hom 3159.78 102 2 26647277 . T G 3159.78 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.471;DP=102;Dels=0.00;FS=3.534;HRun=2;HaplotypeScore=0.8321;MQ=59.32;MQ0=0;MQRankSum=-0.543;QD=30.98;ReadPosRankSum=1.026;VQSLOD=4.3763;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,100:102:99:3193,196,0 2 26667615 26667615 T C exonic DRC1 nonsynonymous SNV DRC1:NM_145038:exon10:c.T1195C:p.W399R 1. 1. 1. 1. 1. 1. 0.9993 0.9938 0.9998 1 1 1 1 0.9992 1. 0.99 1. 0.99 1. rs939820 . . Benign not_specified RCV000243978.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.059 0.223 N 1.000 0.090 P -2.47 0.001 N 2.77 0.114 T 2.89 0.002 N 0.033 0.013 -0.962 0.389 T 0.000 0.000 T . . . -0.258 0.071 0.825 0.334 0.020 0.153 0.187 N c -0.899 -0.607 0.013 0.124 0.497 0.185 0 5.51 0.817 1.134 0.308 0.016 0.142 0.995 0.385 0.851 0.355 9.258 0.366 . . . 0.9995 0.9935 0.9998 1 1 1 1.0000 1 0.9993 0.9976 0.9915 1 1 1 1 0.9999 1 hom 2186.93 74 2 26667615 . T C 2186.93 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=29.55;VQSLOD=7.6663;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2220,175,0 2 26741961 26741961 G A exonic OTOF nonsynonymous SNV OTOF:NM_001287489:exon4:c.C244T:p.R82C,OTOF:NM_194248:exon4:c.C244T:p.R82C 0.27 0.067 0.5 0.082 0.46 0.38 0.4350 0.1508 0.5254 0.1070 0.4169 0.5089 0.4540 0.4296 0.37 0.14 0.48 0.27 0.34 rs13031859 COSM3758163 1(breast);1(large_intestine) Benign|Benign|Likely benign Deafness\x2c_autosomal_recessive_9|not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000021048.1|RCV000041497.3|RCV000367748.1 MedGen:OMIM|MedGen|MedGen C1832828:601071|CN169374|CN239439 . . . . . . 0.075 0.344 T 0.002 0.090 B 0.006 0.112 B 0.000 0.537 N 0.000 0.492 P 0 0.065 N -0.63 0.720 T -0.37 0.132 N 0.09 0.088 -0.934 0.436 T 0.000 0.000 T . . . 3.104 0.433 22.5 0.952 0.259 0.698 0.340 D c -0.604 -0.463 0.019 0.131 0.447 0.083 0 1.2 0.201 1.496 0.350 -0.213 0.100 1.000 0.715 0.984 0.507 8.963 0.348 C2 domain . . 0.4058 0.1234 0.4981 0.4541 0.0900 0.3457 0.4739 0.4488 0.4041 0.3325 0.1350 0.5095 0.4333 0.0932 0.3668 0.4498 0.3885 hom 1505.09 49 2 26741961 . G A 1505.09 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.72;VQSLOD=13.4584;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1538,120,0 2 26800422 26800422 G A exonic C2orf70 nonsynonymous SNV C2orf70:NM_001322426:exon4:c.G349A:p.G117R 0.34 0.2 0.58 0.22 0.46 0.36 0.4282 0.2379 0.5627 0.2121 0.3667 0.4825 0.4298 0.3648 0.4 0.24 0.48 0.41 0.43 rs1053807 . . . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.516 P . . . . . . -8.0 0.965 D . . -1.032 0.200 T 0.000 0.000 T . . . 0.065 0.100 3.241 0.821 0.136 0.012 0.043 N c -2.046 -2.294 1.0 0.983 0.534 0.214 0 -10.5 0.002 -5.058 0.002 -2.872 0.002 0.000 0.063 0.051 0.165 1.084 0.015 . ENSG00000173557.10 Testis 0.4350 0.2315 0.5607 0.4786 0.2028 0.3750 0.4856 0.4741 0.3685 0.3854 0.2366 0.5239 0.5033 0.1927 0.3786 0.4798 0.4550 hom 4694.81 155 2 26800422 . G A 4694.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.695;DP=155;Dels=0.00;FS=9.556;HRun=0;HaplotypeScore=0.9734;MQ=59.33;MQ0=0;MQRankSum=0.500;QD=30.29;ReadPosRankSum=0.877;VQSLOD=3.3534;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:3,152:155:99:4584,253,0 2 27169842 27169842 C A exonic DPYSL5 synonymous SNV DPYSL5:NM_001253723:exon13:c.C1674A:p.G558G,DPYSL5:NM_001253724:exon13:c.C1674A:p.G558G,DPYSL5:NM_020134:exon13:c.C1674A:p.G558G 0.57 0.42 0.46 0.71 0.63 0.68 0.5829 0.4435 0.3550 0.6853 0.6516 0.6018 0.5674 0.6715 0.55 0.44 0.61 0.6 0.56 rs11126784 COSM3758164 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5775 0.4319 0.3613 0.6034 0.6903 0.6462 0.6049 0.5752 0.6672 0.5581 0.4400 0.3866 0.5629 0.7006 0.6438 0.5989 0.5888 het 644.42 73 2 27169842 . C A 644.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.191;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7980;MQ=59.68;MQ0=0;MQRankSum=1.319;QD=8.83;ReadPosRankSum=0.169;VQSLOD=6.0717;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,25:73:99:674,0,1357 2 27246285 27246285 C T exonic MAPRE3 synonymous SNV MAPRE3:NM_001303050:exon3:c.C207T:p.H69H,MAPRE3:NM_012326:exon3:c.C207T:p.H69H 0.88 0.82 0.85 0.84 0.93 0.97 0.9101 0.8386 0.8251 0.8358 0.9264 0.9280 0.9031 0.9754 0.9 0.85 0.93 0.9 0.89 rs10865456 COSM5425576 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9069 0.8339 0.8295 0.9083 0.8391 0.9241 0.9284 0.9028 0.9754 0.8975 0.8391 0.8361 0.8775 0.8478 0.9316 0.9312 0.9204 hom 7116.01 234 2 27246285 . C T 7116.01 Mask AC=2;AF=1.00;AN=2;DP=234;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5299;MQ=59.14;MQ0=0;QD=30.41;VQSLOD=8.8861;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7115,554,0 2 27260469 27260469 G A exonic TMEM214 nonsynonymous SNV TMEM214:NM_001083590:exon8:c.G916A:p.V306M,TMEM214:NM_017727:exon9:c.G1051A:p.V351M 0.3 0.45 0.4 0.066 0.31 0.28 0.3161 0.4313 0.4699 0.0690 0.2702 0.3152 0.3389 0.2900 0.34 0.42 0.31 0.35 0.28 rs1124649 COSM3758166 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.021 0.524 D 1.0 0.899 D 0.995 0.818 D 0.000 0.629 D 0.000 0.588 P 2.77 0.812 M 0.51 0.555 T -0.83 0.232 N 0.38 0.440 -1.026 0.217 T 0.000 0.000 T . . . 6.601 0.907 31 0.995 0.662 0.976 0.755 D c 0.889 0.879 1.000 0.747 0.707 0.730 0 5.69 0.883 9.347 0.964 1.048 0.713 1.000 0.715 1.000 0.888 17.591 0.878 . ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000084764.6|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000084764.6|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.3171 0.4330 0.4671 0.3004 0.0681 0.2721 0.3117 0.3186 0.2927 0.3420 0.4396 0.4558 0.3067 0.0813 0.2801 0.3242 0.3135 het 2751.23 208 2 27260469 . G A 2751.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.663;DP=208;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6456;MQ=59.71;MQ0=0;MQRankSum=-0.068;QD=13.23;ReadPosRankSum=1.414;VQSLOD=6.2512;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,104:208:99:2781,0,2651 2 27282229 27282229 T A exonic AGBL5 synonymous SNV AGBL5:NM_001035507:exon11:c.T2046A:p.S682S,AGBL5:NM_021831:exon11:c.T2046A:p.S682S 0.016 0.046 0.016 . 0.007 0.002 0.0091 0.0383 0.0042 0 0.0048 0.0087 0.0121 0.0025 0.02 0.04 0.0095 0.011 0.016 rs34931609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0088 0.0395 0.0057 0.0142 0 0.0057 0.0087 0.0104 0.0029 0.0185 0.0397 0.0120 0.0033 0 0.0052 0.0126 0.0102 het 1190.80 100 2 27282229 . T A 1190.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.135;DP=100;Dels=0.00;FS=0.751;HRun=1;HaplotypeScore=0.8941;MQ=59.63;MQ0=0;MQRankSum=0.328;QD=11.91;ReadPosRankSum=0.141;VQSLOD=6.1003;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,48:100:99:1221,0,1400 2 27303755 27303755 A G exonic EMILIN1 nonsynonymous SNV EMILIN1:NM_007046:exon3:c.A446G:p.Q149R 0.97 0.89 0.98 1. 1. 1. 0.9928 0.9211 0.9962 0.9999 1 0.9994 0.9906 0.9996 0.98 0.93 1. 0.92 0.87 rs2736976 COSM4133770 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9936 0.9114 0.9948 0.9995 0.9999 1 0.9994 0.9958 0.9997 0.9780 0.9241 0.9893 0.9967 1 1 0.9995 0.9980 hom 801.59 26 2 27303755 . A G 801.59 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8273;MQ=59.11;MQ0=0;QD=30.83;VQSLOD=8.4417;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:72.17:835,72,0 2 27315252 27315252 G A exonic KHK nonsynonymous SNV KHK:NM_000221:exon2:c.G145A:p.V49I,KHK:NM_006488:exon2:c.G145A:p.V49I 0.33 0.3 0.5 0.23 0.38 0.3 0.3776 0.3156 0.6357 0.2398 0.3328 0.3814 0.4093 0.3085 0.36 0.32 0.38 0.35 0.34 rs2304681 COSM1407364;COSM1407365 2(large_intestine) Benign Fructosuria\x2c_essential RCV000357894.1 MedGen:OMIM C0268160:229800 . . . . . . 0.065 0.363 T 0.045 0.357 B 0.012 0.322 B 0.000 0.477 N 0.009 0.421 P 2.265 0.646 M -1.13 0.777 T -0.84 0.229 N 0.054 0.048 -0.937 0.431 T 0.000 0.000 T . . . 3.631 0.494 23.2 0.998 0.861 0.799 0.394 D c -0.287 -0.241 1.000 0.489 0.744 0.983 0 2.71 0.310 4.247 0.583 1.045 0.669 1.000 0.715 0.668 0.302 7.773 0.280 Carbohydrate kinase PfkB|Ribokinase-like ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000157851.12|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000084764.6|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138028.10|ENSG00000084764.6|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8|ENSG00000138030.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.3862 0.3167 0.6235 0.3866 0.2350 0.3335 0.3781 0.4030 0.3107 0.3609 0.3254 0.5943 0.4040 0.2417 0.3365 0.3859 0.3665 het 855.89 71 2 27315252 . G A 855.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.518;DP=71;Dels=0.00;FS=2.332;HRun=0;HaplotypeScore=0.8667;MQ=59.61;MQ0=0;MQRankSum=-0.329;QD=12.05;ReadPosRankSum=0.024;VQSLOD=6.8308;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,34:71:99:886,0,1051 2 27324724 27324724 G C exonic CGREF1 synonymous SNV CGREF1:NM_001166239:exon6:c.C375G:p.T125T,CGREF1:NM_006569:exon6:c.C375G:p.T125T 0.57 0.38 0.46 0.77 0.62 0.68 0.5921 0.4144 0.3508 0.7597 0.6560 0.6116 0.5619 0.6820 0.55 0.42 0.62 0.48 0.58 rs2384571 COSM3758171;COSM3758172;COSM3758173 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5878 0.4080 0.3579 0.6058 0.7651 0.6531 0.6152 0.5816 0.6791 0.5589 0.4132 0.3771 0.5933 0.7580 0.6523 0.6065 0.6086 het 1196.85 120 2 27324724 . G C 1196.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.826;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0260;MQ=59.44;MQ0=0;MQRankSum=1.315;QD=9.97;ReadPosRankSum=0.078;VQSLOD=6.0136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,48:120:99:1227,0,1852 2 27324751 27324751 G T exonic CGREF1 synonymous SNV CGREF1:NM_001166239:exon6:c.C348A:p.I116I,CGREF1:NM_006569:exon6:c.C348A:p.I116I 0.54 0.27 0.45 0.76 0.62 0.68 0.5821 0.3033 0.3462 0.7553 0.6552 0.6114 0.5622 0.6831 0.51 0.31 0.61 0.46 0.58 rs2384572 COSM3758176;COSM3758174;COSM3758175 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5787 0.2923 0.3531 0.6058 0.7610 0.6535 0.6145 0.5756 0.6789 0.5265 0.2997 0.3756 0.5894 0.7550 0.6523 0.6062 0.6074 het 1037.81 104 2 27324751 . G T 1037.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.205;DP=104;Dels=0.00;FS=0.780;HRun=0;HaplotypeScore=0.8941;MQ=59.78;MQ0=0;MQRankSum=0.772;QD=9.98;ReadPosRankSum=0.238;VQSLOD=6.5889;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,43:104:99:1068,0,1599 2 27351948 27351948 T G exonic ABHD1 nonsynonymous SNV ABHD1:NM_032604:exon3:c.T411G:p.D137E 0.98 0.94 1. 1. 1. 1. 0.9952 0.9477 0.9981 1 1 0.9998 0.9978 0.9999 0.98 0.95 1. 0.97 1. rs6715286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9961 0.9457 0.9973 0.9997 1 1 0.9998 0.9982 0.9999 0.9847 0.9469 0.9940 0.9967 1 1 0.9997 0.9990 hom 4553.01 140 2 27351948 . T G 4553.01 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.84;MQ0=0;QD=32.52;VQSLOD=9.5913;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4552,358,0 2 27424636 27424636 G A exonic SLC5A6 nonsynonymous SNV SLC5A6:NM_021095:exon14:c.C1442T:p.S481F 0.53 0.16 0.52 0.85 0.69 0.55 0.6193 0.2362 0.4243 0.8526 0.7091 0.6874 0.6261 0.5625 0.54 0.25 0.69 0.4 0.59 rs1395 COSM4133773 1(breast);1(thyroid) . . . . . Blood metabolite levels . .02 24816252 rs1395 8E-11 0.04 0.421 D 0.012 0.151 B 0.011 0.145 B 0.401 0.131 N 0.072 0.369 P 2.81 0.821 M -2.11 0.862 D -0.96 0.255 N 0.09 0.149 -0.919 0.457 T 0.000 0.000 T . . . 3.357 0.462 22.9 0.991 0.511 0.704 0.343 D c -0.243 -0.155 0.999 0.387 0.707 0.730 0 4.78 0.605 1.001 0.292 0.953 0.551 0.002 0.151 0.319 0.240 12.560 0.554 . ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000115234.6|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12|ENSG00000138085.12 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.6210 0.2276 0.4281 0.6459 0.8542 0.7075 0.6934 0.6239 0.5624 0.5669 0.2336 0.4426 0.6490 0.8522 0.7045 0.6980 0.6480 het 952.06 70 2 27424636 . G A 952.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.249;DP=70;Dels=0.00;FS=2.002;HRun=1;HaplotypeScore=1.6828;MQ=59.67;MQ0=0;MQRankSum=0.441;QD=13.60;ReadPosRankSum=-0.746;VQSLOD=6.7605;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:982,0,1117 2 27428295 27428295 A G exonic SLC5A6 synonymous SNV SLC5A6:NM_021095:exon7:c.T657C:p.I219I 1. 0.99 1. 1. 1. 1. 0.9997 0.9963 0.9999 1 1 1.0000 1 0.9999 1. 1. 1. 1. 1. rs1275524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9952 0.9997 1 1 1 1.0000 1 1 0.9982 0.9937 1 1 1 1 0.9999 1 hom 3292.54 111 2 27428295 . A G 3292.54 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4302;MQ=58.73;MQ0=0;QD=29.66;VQSLOD=8.6758;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3292,283,0 2 27440785 27440785 C T exonic CAD synonymous SNV CAD:NM_001306079:exon2:c.C123T:p.T41T,CAD:NM_004341:exon2:c.C123T:p.T41T 1. 0.98 1. 1. 1. 1. 0.9986 0.9855 0.9994 1 1 0.9999 0.9989 1 1. 0.99 1. 1. 1. rs1275536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9987 0.9832 0.9989 1 0.9999 1 0.9999 0.9993 1.0000 0.9947 0.9815 0.9988 1 1 1 0.9999 1 hom 5673.81 181 2 27440785 . C T 5673.81 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8801;MQ=58.91;MQ0=0;QD=31.35;VQSLOD=8.1119;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5673,433,0 2 27459364 27459364 T C exonic CAD synonymous SNV CAD:NM_001306079:exon25:c.T4098C:p.D1366D,CAD:NM_004341:exon26:c.T4287C:p.D1429D 0.084 0.28 0.049 . 0.013 0.002 0.0313 0.2587 0.0142 0.0001 0.0067 0.0124 0.0297 0.0028 0.095 0.25 0.016 0.12 0.041 rs10193746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0272 0.2594 0.0177 0.0392 0 0.0084 0.0119 0.0210 0.0032 0.0814 0.2538 0.0358 0.0166 0 0.0077 0.0150 0.0214 het 1035.40 85 2 27459364 . T C 1035.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.723;DP=85;Dels=0.00;FS=1.801;HRun=0;HaplotypeScore=1.9990;MQ=59.41;MQ0=0;MQRankSum=-0.066;QD=12.18;ReadPosRankSum=-0.146;VQSLOD=6.8741;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:1065,0,1261 2 27460968 27460968 A G exonic CAD synonymous SNV CAD:NM_001306079:exon29:c.A4584G:p.A1528A,CAD:NM_004341:exon30:c.A4773G:p.A1591A 0.45 0.84 0.47 0.15 0.29 0.41 0.3653 0.7630 0.5745 0.1481 0.2451 0.2982 0.3422 0.4020 0.45 0.75 0.3 0.56 0.33 rs1141313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3628 0.7717 0.5665 0.3454 0.1450 0.2457 0.2937 0.3595 0.4006 0.4209 0.7635 0.5552 0.3411 0.1469 0.2536 0.2903 0.3265 het 895.08 86 2 27460968 . A G 895.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.765;DP=86;Dels=0.00;FS=0.837;HRun=1;HaplotypeScore=1.6498;MQ=59.08;MQ0=0;MQRankSum=0.870;QD=10.41;ReadPosRankSum=0.949;VQSLOD=6.6282;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,35:86:99:925,0,1398 2 27461368 27461368 T C exonic CAD nonsynonymous SNV CAD:NM_001306079:exon30:c.T4741C:p.F1581L,CAD:NM_004341:exon31:c.T4930C:p.F1644L 0.0022 . 0.0072 . 0.005 0.001 0.0045 0.0008 0.0012 0.0001 0.0067 0.0069 0.0046 0.0007 0.0056 0.0014 0.0078 . 0.016 rs144692793 . . . . . . . . . . . . . 0.034 0.440 D 0.968 0.689 D 0.853 0.769 P 0.000 0.843 D 1 0.810 D 1.265 0.321 L -4.74 0.981 D -3.39 0.671 D 0.637 0.654 0.879 0.954 D 0.873 0.958 D 0.244 0.889 D 5.951 0.817 27.7 0.998 0.922 0.989 0.881 D c 0.474 0.482 1.000 0.747 0.672 0.522 0 4.94 0.645 7.658 0.826 0.964 0.580 1.000 0.715 0.615 0.291 13.448 0.604 Metal-dependent hydrolase . . 0.0050 0.0009 0.0023 0.0078 0 0.0082 0.0076 0.0033 0.0007 0.0070 0.0016 0.0060 0 0 0.0074 0.0110 0.0071 het 1569.87 148 2 27461368 . T C 1569.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.818;DP=148;Dels=0.00;FS=1.336;HRun=0;HaplotypeScore=3.4391;MQ=59.59;MQ0=0;MQRankSum=-0.502;QD=10.61;ReadPosRankSum=-0.030;VQSLOD=4.4950;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,60:148:99:1600,0,2339 2 27478231 27478231 A G exonic SLC30A3 synonymous SNV SLC30A3:NM_001318951:exon8:c.T1077C:p.Y359Y,SLC30A3:NM_003459:exon8:c.T1116C:p.Y372Y,SLC30A3:NM_001318949:exon9:c.T1101C:p.Y367Y,SLC30A3:NM_001318950:exon9:c.T1077C:p.Y359Y 0.14 0.48 0.062 . 0.015 0.002 0.0482 0.4457 0.0192 0 0.0069 0.0129 0.0317 0.0028 0.15 0.42 0.017 0.22 0.041 rs13390228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0402 0.4501 0.0246 0.0391 0 0.0084 0.0122 0.0285 0.0034 0.1350 0.4425 0.0430 0.0166 0 0.0077 0.0154 0.0285 het 459.56 38 2 27478231 . A G 459.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.770;DP=38;Dels=0.00;FS=11.101;HRun=1;HaplotypeScore=1.5661;MQ=59.39;MQ0=0;MQRankSum=-0.399;QD=12.09;ReadPosRankSum=1.937;VQSLOD=4.1467;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,16:38:99:490,0,588 2 27481652 27481652 A C exonic SLC30A3 synonymous SNV SLC30A3:NM_001318951:exon2:c.T207G:p.V69V,SLC30A3:NM_003459:exon2:c.T246G:p.V82V,SLC30A3:NM_001318949:exon3:c.T231G:p.V77V,SLC30A3:NM_001318950:exon3:c.T207G:p.V69V 0.12 0.42 0.052 . 0.013 0.002 0.0432 0.3962 0.0170 0 0.0067 0.0127 0.0268 0.0027 0.14 0.37 0.016 0.16 0.041 rs1992290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0365 0.4003 0.0220 0.0390 0 0.0084 0.0120 0.0245 0.0032 0.1207 0.3920 0.0406 0.0166 0 0.0077 0.0151 0.0255 het 1505.97 155 2 27481652 . A C 1505.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.714;DP=155;Dels=0.00;FS=3.891;HRun=0;HaplotypeScore=3.3452;MQ=58.15;MQ0=0;MQRankSum=0.387;QD=9.72;ReadPosRankSum=1.546;VQSLOD=4.8389;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,64:155:99:1536,0,2432 2 27550967 27550967 A G exonic GTF3C2 synonymous SNV GTF3C2:NM_001035521:exon17:c.T2346C:p.P782P,GTF3C2:NM_001318909:exon17:c.T2379C:p.P793P,GTF3C2:NM_001521:exon18:c.T2346C:p.P782P 0.45 0.74 0.48 0.16 0.38 0.4 0.4216 0.6923 0.5735 0.1557 0.4476 0.3891 0.4262 0.4047 0.49 0.68 0.39 0.6 0.43 rs1049817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4192 0.6941 0.5606 0.3464 0.1516 0.4437 0.3870 0.4096 0.4045 0.4779 0.6983 0.5585 0.34 0.1541 0.4472 0.3936 0.4242 hom 4080.87 121 2 27550967 . A G 4080.87 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8867;MQ=58.96;MQ0=0;QD=33.73;VQSLOD=9.5136;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:4081,316,0 2 27676287 27676287 A T exonic IFT172 synonymous SNV IFT172:NM_015662:exon35:c.T3915A:p.S1305S 0.35 0.37 0.45 0.17 0.37 0.44 0.3886 0.3673 0.5648 0.1533 0.4281 0.3799 0.4128 0.4196 0.38 0.37 0.38 0.41 0.43 rs56076827 COSM5425733 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000443115.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3931 0.3581 0.5513 0.3326 0.1512 0.4270 0.3787 0.3915 0.4203 0.3789 0.3718 0.5443 0.3167 0.1582 0.4306 0.3848 0.4090 hom 5465.11 168 2 27676287 . A T 5465.11 Mask AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7214;MQ=59.36;MQ0=0;QD=32.53;VQSLOD=8.9524;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,168:168:99:5465,418,0 2 27730940 27730940 T C exonic GCKR nonsynonymous SNV GCKR:NM_001486:exon15:c.T1337C:p.L446P 0.71 0.91 0.64 0.52 0.59 0.8 0.6429 0.8646 0.6786 0.5061 0.6545 0.5892 0.6578 0.7605 0.68 0.86 0.58 0.73 0.64 rs1260326 COSM4133785 1(pancreas);1(skin);1(thyroid) other Fasting_plasma_glucose_level_quantitative_trait_locus_5 RCV000009294.2 MedGen:OMIM C3150714:613463 Metabolic traits . .09 19060910 rs1260326 4E-10 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.077 0.211 N 0.267 0.337 P . . . 2.31 0.168 T 2.42 0.003 N 0.368 0.429 -1.049 0.147 T 0.000 0.000 T . . . -0.625 0.049 0.108 0.040 0.000 0.018 0.055 N c 0.291 0.031 0.091 0.161 0.554 0.246 0 2.95 0.331 0.075 0.144 -0.320 0.077 0.996 0.391 0.412 0.256 6.324 0.203 Sugar isomerase (SIS) ENSG00000115216.9|ENSG00000157992.8|ENSG00000234072.1|ENSG00000234072.1|ENSG00000234072.1|ENSG00000234072.1|ENSG00000115234.6|ENSG00000234072.1|ENSG00000234072.1|ENSG00000115216.9|ENSG00000115226.5|ENSG00000234072.1|ENSG00000115216.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Pituitary|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.6333 0.8692 0.6679 0.4656 0.5080 0.6425 0.5904 0.5959 0.7577 0.6758 0.8641 0.6843 0.4503 0.5056 0.6377 0.6005 0.6283 hom 1900.36 59 2 27730940 . T C 1900.36 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5494;MQ=59.61;MQ0=0;QD=32.21;VQSLOD=9.0435;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1933,156,0 2 27799773 27799773 A C exonic C2orf16 nonsynonymous SNV C2orf16:NM_032266:exon1:c.A334C:p.N112H 0.0054 . 0.014 . 0.015 0.002 0.0098 0.0016 0.0042 0.0003 0.0207 0.0140 0.0089 0.0022 0.011 0.0024 0.015 0.011 0.025 rs115018606 COSM5002034;COSM5002033 1(pancreas) . . . . . . . . . . . 0.019 0.501 D 0.972 0.554 D 0.46 0.446 P . . . 1 0.090 N 0 0.065 N 3.4 0.057 T -0.49 0.156 N 0.008 0.000 -0.955 0.402 T 0.009 0.031 T . . . -1.069 0.029 0.011 0.630 0.069 0.040 0.093 N c -0.569 -0.715 0.097 0.163 0.554 0.283 0 1.4 0.213 0.409 0.207 1.061 0.807 0.000 0.063 0.003 0.074 4.915 0.131 . . . 0.0106 0.0016 0.0054 0.0210 0.0001 0.0213 0.0142 0.0099 0.0024 0.0120 0.0026 0.0072 0.0265 0 0.0203 0.0169 0.0122 het 624.67 50 2 27799773 . A C 624.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.410;DP=50;Dels=0.00;FS=2.463;HRun=0;HaplotypeScore=2.6766;MQ=59.07;MQ0=0;MQRankSum=0.750;QD=12.49;ReadPosRankSum=-1.690;VQSLOD=5.3286;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:655,0,676 2 27801403 27801403 C G exonic C2orf16 nonsynonymous SNV C2orf16:NM_032266:exon1:c.C1964G:p.T655S 0.66 0.74 0.69 0.85 0.5 0.51 0.5605 0.6970 0.6738 0.8461 0.5121 0.5025 0.5179 0.5068 0.56 0.69 0.5 0.73 0.52 rs1919125 . . . . . . . . . . . . . 0.426 0.096 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 0 0.065 N 3.41 0.056 T -0.43 0.144 N 0.014 0.002 -1.056 0.129 T 0.000 0.000 T . . . -1.491 0.017 0.003 0.522 0.046 0.018 0.056 N c -1.630 -1.619 0.810 0.243 0.516 0.203 0 -0.677 0.107 -0.504 0.064 -2.720 0.002 0.000 0.063 0.003 0.074 5.683 0.169 . ENSG00000163798.9|ENSG00000234072.1|ENSG00000115241.9|ENSG00000115234.6|ENSG00000115216.9|ENSG00000084734.4|ENSG00000115226.5 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen 0.5639 0.6956 0.6662 0.5680 0.8446 0.5189 0.4966 0.5464 0.5075 0.5725 0.6796 0.6483 0.5772 0.8392 0.5017 0.4989 0.4949 het 878.52 80 2 27801403 . C G 878.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.088;DP=80;Dels=0.00;FS=0.831;HRun=0;HaplotypeScore=2.8607;MQ=59.30;MQ0=0;MQRankSum=-0.247;QD=10.98;ReadPosRankSum=1.533;VQSLOD=5.9369;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,36:80:99:909,0,1226 2 27801418 27801418 C A exonic C2orf16 nonsynonymous SNV C2orf16:NM_032266:exon1:c.C1979A:p.A660E 0.66 0.74 0.69 0.85 0.5 0.51 0.5605 0.6970 0.6738 0.8461 0.5121 0.5026 0.5179 0.5068 0.56 0.69 0.5 0.73 0.52 rs1919126 COSM4133787;COSM4133786 1(thyroid) . . . . . . . . . . . 0.342 0.126 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.090 P 0.345 0.112 N 3.05 0.087 T -1.51 0.368 N 0.043 0.023 -1.065 0.106 T 0.000 0.000 T . . . 0.935 0.183 10.28 0.680 0.083 0.119 0.167 N c -1.070 -1.040 0.952 0.279 0.516 0.203 0 -3.09 0.050 -0.846 0.044 -0.999 0.022 0.796 0.294 0.551 0.280 1.854 0.030 . ENSG00000163798.9|ENSG00000234072.1|ENSG00000115241.9|ENSG00000115234.6|ENSG00000115216.9|ENSG00000084734.4|ENSG00000115226.5 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen 0.5638 0.6957 0.6662 0.5674 0.8445 0.5189 0.4966 0.5458 0.5075 0.5725 0.6795 0.6475 0.5772 0.8392 0.5014 0.4991 0.4959 het 900.82 74 2 27801418 . C A 900.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.518;DP=74;Dels=0.00;FS=1.931;HRun=1;HaplotypeScore=0.9997;MQ=59.24;MQ0=0;MQRankSum=0.461;QD=12.17;ReadPosRankSum=0.146;VQSLOD=6.9197;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,34:74:99:931,0,1122 2 27838058 27838058 C A exonic ZNF512 synonymous SNV ZNF512:NM_001271286:exon10:c.C1068A:p.L356L,ZNF512:NM_001271287:exon10:c.C924A:p.L308L,ZNF512:NM_001271288:exon10:c.C924A:p.L308L,ZNF512:NM_001271289:exon10:c.C840A:p.L280L,ZNF512:NM_032434:exon11:c.C1155A:p.L385L,ZNF512:NM_001271318:exon12:c.C924A:p.L308L 0.65 0.71 0.69 0.85 0.5 0.51 0.5596 0.6813 0.6715 0.8456 0.5121 0.5024 0.5187 0.5067 0.55 0.67 0.49 0.72 0.52 rs11127071 COSM5619193 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5594 0.6777 0.6612 0.5661 0.843 0.5185 0.4953 0.5395 0.5027 0.5710 0.6687 0.6478 0.5828 0.8399 0.5023 0.5014 0.5 het 1774.85 159 2 27838058 . C A 1774.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.060;DP=159;Dels=0.00;FS=3.164;HRun=0;HaplotypeScore=3.8848;MQ=59.36;MQ0=0;MQRankSum=0.316;QD=11.16;ReadPosRankSum=0.420;VQSLOD=5.9855;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,74:159:99:1805,0,2216 2 27887034 27887034 C A exonic SLC4A1AP nonsynonymous SNV SLC4A1AP:NM_018158:exon1:c.C415A:p.P139T 0.34 0.25 0.35 0.079 0.54 0.51 0.4731 0.3061 0.3454 0.0866 0.5554 0.5528 0.4934 0.5127 0.48 0.31 0.56 0.26 0.52 rs9678851 COSM4133788 1(thyroid) . . . . . . . . . . . 0.626 0.052 T 0.026 0.181 B 0.014 0.158 B 0.941 0.076 N 1 0.090 P 2.28 0.651 M 1.28 0.360 T 0.26 0.044 N 0.019 0.004 -0.906 0.474 T 0.000 0.000 T . . . -0.680 0.046 0.080 0.851 0.152 0.065 0.124 N c -1.257 -1.316 1.000 0.747 0.442 0.072 0 -1.94 0.071 -0.365 0.076 -0.031 0.126 0.000 0.063 0.001 0.043 7.715 0.277 SMAD/FHA domain ENSG00000163792.5|ENSG00000234072.1|ENSG00000115241.9|ENSG00000115216.9|ENSG00000115234.6|ENSG00000084734.4|ENSG00000115226.5 Adipose_Visceral_Omentum|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Spleen|Spleen 0.4712 0.2999 0.3530 0.5161 0.0880 0.5484 0.5581 0.4816 0.5128 0.4566 0.3151 0.3783 0.4801 0.0841 0.5722 0.5505 0.5449 hom 2855.15 94 2 27887034 . C A 2855.15 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=30.37;VQSLOD=9.0597;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2888,235,0 2 29001691 29001691 A G exonic PPP1CB synonymous SNV PPP1CB:NM_002709:exon3:c.A201G:p.Q67Q,PPP1CB:NM_206876:exon4:c.A201G:p.Q67Q 0.5 0.58 0.44 0.22 0.61 0.6 0.5447 0.5834 0.3315 0.2144 0.6039 0.6071 0.5529 0.5663 0.6 0.58 0.6 0.42 0.56 rs1128416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5335 0.5822 0.3429 0.5498 0.2078 0.5999 0.6102 0.5615 0.5645 0.5690 0.5769 0.3864 0.6192 0.2261 0.5867 0.6068 0.5625 het 318.44 31 2 29001691 . A G 318.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.352;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=57.55;MQ0=0;MQRankSum=0.415;QD=10.27;ReadPosRankSum=0.336;VQSLOD=6.4538;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:348,0,379 2 29092679 29092679 T C exonic TRMT61B synonymous SNV TRMT61B:NM_017910:exon1:c.A465G:p.E155E 0.51 0.39 0.57 0.78 0.41 0.42 0.4701 0.3926 0.6758 0.7824 0.4145 0.4178 0.4603 0.4450 0.41 0.38 0.42 0.56 0.4 rs4233729 COSM3758199 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4807 0.3826 0.6618 0.4827 0.7874 0.4174 0.4151 0.4553 0.4478 0.4332 0.3828 0.6199 0.4073 0.7706 0.4347 0.4151 0.4499 het 953.62 82 2 29092679 . T C 953.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.059;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7482;MQ=58.92;MQ0=0;MQRankSum=-0.299;QD=11.63;ReadPosRankSum=2.017;VQSLOD=5.5685;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,37:82:99:984,0,1110 2 29092850 29092850 G T exonic TRMT61B synonymous SNV TRMT61B:NM_017910:exon1:c.C294A:p.S98S 0.51 0.39 0.57 0.78 0.41 0.42 0.4692 0.3909 0.6753 0.7808 0.4135 0.4170 0.4592 0.4447 0.41 0.38 0.42 0.55 0.42 rs4666122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4804 0.3821 0.6615 0.4821 0.7869 0.4170 0.4146 0.4545 0.4475 0.4328 0.3824 0.6199 0.4073 0.7704 0.4343 0.4139 0.4517 het 1164.89 105 2 29092850 . G T 1164.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.354;DP=105;Dels=0.00;FS=1.782;HRun=0;HaplotypeScore=1.5661;MQ=59.82;MQ0=0;MQRankSum=-0.655;QD=11.09;ReadPosRankSum=0.851;VQSLOD=6.4719;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,48:105:99:1195,0,1588 2 29135468 29135468 C G exonic WDR43 synonymous SNV WDR43:NM_015131:exon4:c.C498G:p.G166G 0.7 0.52 0.76 0.86 0.7 0.73 0.7265 0.5445 0.8098 0.8541 0.7614 0.7194 0.7483 0.7227 0.67 0.57 0.72 0.59 . rs6715296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7304 0.5346 0.8038 0.6881 0.8604 0.7620 0.7155 0.7212 0.7212 0.6782 0.5420 0.7416 0.7152 0.8379 0.7620 0.7131 0.7275 hom 3148.90 108 2 29135468 . C G 3148.90 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=29.16;VQSLOD=8.6720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3182,241,0 2 29152456 29152456 A G exonic WDR43 synonymous SNV WDR43:NM_015131:exon11:c.A1317G:p.E439E 0.42 0.36 0.43 0.07 0.69 0.57 0.5701 0.4083 0.3013 0.0639 0.5519 0.6998 0.6090 0.5971 0.63 0.43 0.72 0.36 . rs1140697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5601 0.3959 0.3137 0.7495 0.0622 0.5567 0.7036 0.6252 0.5970 0.5609 0.4110 0.3585 0.7748 0.0564 0.5529 0.7077 0.6193 hom 1664.13 50 2 29152456 . A G 1664.13 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=33.28;VQSLOD=9.6241;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1697,129,0 2 29169612 29169612 T C exonic WDR43 synonymous SNV WDR43:NM_015131:exon18:c.T2001C:p.D667D 0.76 0.71 0.79 0.86 0.71 0.74 0.7675 0.7469 0.8350 0.8665 0.7859 0.7539 0.7797 0.7387 0.72 0.73 0.72 0.64 . rs3087649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7458 0.7108 0.8113 0.6926 0.8616 0.7637 0.7186 0.7364 0.7245 0.7274 0.7134 0.7554 0.7185 0.8364 0.7628 0.7136 0.7362 hom 430.62 14 2 29169612 . T C 430.62 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=30.76;VQSLOD=8.5041;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:464,36,0 2 29226498 29226498 G A exonic TOGARAM2 synonymous SNV TOGARAM2:NM_001321538:exon6:c.G780A:p.P260P,TOGARAM2:NM_001321539:exon6:c.G780A:p.P260P,TOGARAM2:NM_199280:exon6:c.G780A:p.P260P 0.59 0.31 0.71 0.67 0.76 0.65 0.7232 0.3763 0.7577 0.6448 0.6818 0.7810 0.7570 0.7007 0.66 0.38 0.8 0.51 . rs12613325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7215 0.3459 0.7582 0.7943 0.6433 0.6818 0.7791 0.7468 0.6882 0.6463 0.3697 0.7446 0.8046 0.6415 0.6856 0.7846 0.7280 hom 620.69 24 2 29226498 . G A 620.69 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=25.86;VQSLOD=7.8091;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:51.15:654,51,0 2 29226512 29226512 A G exonic TOGARAM2 nonsynonymous SNV TOGARAM2:NM_001321538:exon6:c.A794G:p.Q265R,TOGARAM2:NM_001321539:exon6:c.A794G:p.Q265R,TOGARAM2:NM_199280:exon6:c.A794G:p.Q265R 0.74 0.6 0.81 0.83 0.84 0.71 0.8124 0.6366 0.8141 0.8123 0.7730 0.8538 0.8617 0.7495 0.8 0.66 0.86 0.79 . rs12623297 COSM4133799 1(thyroid) . . . . . . . . . . . 0.033 0.443 D 0.999 0.764 D 0.994 0.807 D . . . 0.973 0.255 P 2.05 0.567 M 2.43 0.153 T -1.34 0.334 N 0.188 0.230 -1.159 0.008 T 0.000 0.000 T . . . 1.250 0.215 12.01 0.997 0.827 0.958 0.659 D c 0.063 0.113 0.994 0.334 0.428 0.059 0 5.16 0.704 3.076 0.495 1.140 0.893 0.994 0.380 0.279 0.233 11.387 0.488 . ENSG00000189350.8 Nerve_Tibial 0.8131 0.6222 0.8227 0.8509 0.8167 0.7872 0.8558 0.8260 0.7412 0.7831 0.6368 0.8091 0.8676 0.8027 0.7987 0.8576 0.8098 hom 567.62 22 2 29226512 . A G 567.62 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.80;VQSLOD=12.9581;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:45.14:601,45,0 2 29246044 29246044 T C exonic TOGARAM2 nonsynonymous SNV TOGARAM2:NM_001321538:exon11:c.T1439C:p.V480A,TOGARAM2:NM_199280:exon12:c.T1604C:p.V535A 0.47 0.62 0.4 0.7 0.32 0.25 0.4306 0.6148 0.4420 0.7438 0.3955 0.3977 0.4412 0.2793 0.4 0.55 0.33 0.61 . rs6721861 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 N 1.000 0.186 P -2.155 0.001 N 2.54 0.139 T 3.56 0.001 N 0.031 0.306 -0.964 0.383 T 0.000 0.000 T . . . 0.756 0.166 9.189 0.343 0.021 0.031 0.080 N c -0.900 -0.624 0.801 0.242 0.516 0.203 0 4.61 0.566 4.004 0.565 0.069 0.176 0.997 0.399 0.958 0.437 10.474 0.436 Armadillo-like helical|Armadillo-type fold|CLASP N-terminal domain;Armadillo-type fold|CLASP N-terminal domain . . 0.3549 0.5772 0.3393 0.3030 0.7203 0.2916 0.3230 0.3377 0.2484 0.4251 0.5844 0.3484 0.3133 0.7103 0.3026 0.3433 0.3289 het 78.25 17 2 29246044 . T C 78.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=57.01;MQ0=0;MQRankSum=-2.055;QD=4.60;ReadPosRankSum=0.791;VQSLOD=3.6204;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,5:17:99:108,0,320 2 29356669 29356669 A G exonic CLIP4 synonymous SNV CLIP4:NM_001287527:exon5:c.A516G:p.T172T,CLIP4:NM_001287528:exon5:c.A516G:p.T172T,CLIP4:NM_024692:exon5:c.A516G:p.T172T 0.42 0.67 0.32 0.32 0.4 0.25 0.3704 0.6158 0.2172 0.3150 0.3235 0.3911 0.3647 0.2823 0.47 0.61 0.4 0.43 0.41 rs3100232 COSM4415218 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3620 0.6172 0.2336 0.4308 0.3187 0.3173 0.3934 0.3855 0.2786 0.4395 0.6065 0.2584 0.4139 0.2921 0.3287 0.3971 0.4010 het 939.13 87 2 29356669 . A G 939.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.024;DP=87;Dels=0.00;FS=0.818;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=-0.047;QD=10.79;ReadPosRankSum=-1.253;VQSLOD=5.5351;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,42:87:99:969,0,1141 2 29366646 29366646 C T exonic CLIP4 synonymous SNV CLIP4:NM_001287527:exon7:c.C720T:p.A240A,CLIP4:NM_001287528:exon7:c.C720T:p.A240A,CLIP4:NM_024692:exon7:c.C720T:p.A240A 0.03 0.032 0.03 . 0.076 0.011 0.0519 0.0398 0.0298 0.0001 0.1108 0.0691 0.0518 0.0090 0.058 0.036 0.069 0.011 0.082 rs35024908 COSM3758200;COSM5829456 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0522 0.0392 0.0300 0.0557 5.8e-05 0.1051 0.0692 0.0593 0.0099 0.0577 0.0360 0.0263 0.0430 0 0.0913 0.0697 0.0745 het 4457.61 227 2 29366646 . C T 4457.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.844;DP=227;Dels=0.00;FS=5.888;HRun=0;HaplotypeScore=6.1526;MQ=59.56;MQ0=0;MQRankSum=-0.362;QD=19.64;ReadPosRankSum=-0.765;VQSLOD=3.1293;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,132:227:99:3864,0,2455 2 29404441 29404441 G A exonic CLIP4 synonymous SNV CLIP4:NM_001287527:exon16:c.G1800A:p.S600S,CLIP4:NM_024692:exon16:c.G1800A:p.S600S 0.02 0.0015 0.033 . 0.036 0.042 0.0416 0.0069 0.0165 0.0003 0.0357 0.0534 0.0388 0.0640 0.035 0.0082 0.05 0.022 0.041 rs35300134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0376 0.0069 0.0157 0.0290 0.0003 0.0354 0.0518 0.0428 0.0501 0.0303 0.0087 0.0179 0.0166 0.0006 0.0332 0.0463 0.0305 het 1009.48 83 2 29404441 . G A 1009.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.746;DP=83;Dels=0.00;FS=0.936;HRun=3;HaplotypeScore=0.8321;MQ=58.36;MQ0=0;MQRankSum=-0.014;QD=12.16;ReadPosRankSum=-0.105;VQSLOD=5.1725;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:1039,0,1115 2 29416366 29416366 G C exonic ALK nonsynonymous SNV ALK:NM_004304:exon29:c.C4587G:p.D1529E 0.57 0.64 0.57 0.73 0.38 0.51 0.4600 0.6234 0.6717 0.7465 0.4837 0.3576 0.3932 0.4670 0.43 0.61 0.34 0.6 0.27 rs1881421 COSM5653840;COSM3758201 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Neuroblastoma_Susceptibility RCV000119980.4|RCV000316289.1 MedGen|MedGen CN169374|CN239480 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.119 0.191 N 1 0.090 P -0.695 0.019 N 1.7 0.269 T 1.22 0.011 N 0.008 0.000 -0.993 0.319 T 0.000 0.000 T . . . -1.393 0.019 0.003 0.594 0.061 0.000 0.004 N c -1.813 -1.750 0.923 0.267 0.487 0.133 0 -3.42 0.045 -0.102 0.108 -1.050 0.020 0.000 0.063 0.000 0.016 11.802 0.512 . . . 0.4677 0.6265 0.6611 0.3056 0.7455 0.4887 0.3594 0.4227 0.4589 0.4808 0.6142 0.6055 0.3377 0.7553 0.4851 0.3704 0.4510 het 2977.87 250 2 29416366 . G C 2977.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.699;DP=250;DS;Dels=0.00;FS=14.506;HRun=0;HaplotypeScore=3.4264;MQ=59.11;MQ0=0;MQRankSum=0.126;QD=11.91;ReadPosRankSum=0.799;VQSLOD=3.2784;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:142,108:250:99:3008,0,4255 2 29416572 29416572 T C exonic ALK nonsynonymous SNV ALK:NM_004304:exon29:c.A4381G:p.I1461V 0.99 0.97 1. 1. 1. 1. 0.9972 0.9701 0.9990 1 1 0.9997 0.9989 1 0.99 0.97 1. 1. 0.99 rs1670283 . . Benign|Benign not_specified|Neuroblastoma_Susceptibility RCV000119976.4|RCV000390907.1 MedGen|MedGen CN169374|CN239480 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.683 0.061 N 1 0.090 P -1.1 0.010 N -0.89 0.748 T 0.37 0.036 N 0.012 0.001 -0.987 0.333 T 0.000 0.000 T . . . -2.014 0.008 0.001 0.529 0.047 0.005 0.023 N c -1.265 -1.247 0.774 0.237 0.487 0.133 0 -0.134 0.128 -0.984 0.038 -1.039 0.021 0.000 0.063 0.001 0.043 8.386 0.315 . . . 0.9976 0.9677 0.9990 0.9960 1 1 0.9998 0.9984 1 0.9907 0.9680 0.9940 0.9934 1 1 0.9999 0.9990 hom 5264.67 169 2 29416572 . T C 5264.67 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7333;MQ=59.78;MQ0=0;QD=31.15;VQSLOD=8.9232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5264,409,0 2 29416615 29416615 G A exonic ALK synonymous SNV ALK:NM_004304:exon29:c.C4338T:p.T1446T 0.059 0.078 0.065 0.001 0.12 0.024 0.0936 0.0899 0.0501 0.0005 0.1637 0.1178 0.0835 0.0417 0.1 0.085 0.11 0.054 0.15 rs56132472 COSM5019786 6(soft_tissue) Benign|Likely benign not_specified|Neuroblastoma_Susceptibility RCV000244172.2|RCV000390900.1 MedGen|MedGen CN169374|CN239480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0935 0.0882 0.0527 0.1192 0.0002 0.1625 0.1193 0.1041 0.0397 0.1139 0.0871 0.0501 0.1060 0 0.1580 0.1341 0.1334 het 2128.10 163 2 29416615 . G A 2128.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.066;DP=163;Dels=0.00;FS=2.802;HRun=0;HaplotypeScore=4.0689;MQ=59.40;MQ0=0;MQRankSum=2.130;QD=13.06;ReadPosRankSum=-0.032;VQSLOD=4.6511;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,83:163:99:2158,0,2096 2 29455267 29455267 A G exonic ALK synonymous SNV ALK:NM_004304:exon15:c.T2535C:p.G845G 0.5 0.53 0.55 0.17 0.72 0.52 0.6121 0.5413 0.4366 0.1747 0.6628 0.7108 0.6916 0.5849 0.66 0.55 0.72 0.51 0.73 rs2256740 COSM148825 1(bone);1(stomach);19(soft_tissue) Benign|Benign not_specified|Neuroblastoma_Susceptibility RCV000247134.2|RCV000296991.1 MedGen|MedGen CN169374|CN239480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6083 0.5413 0.4449 0.7995 0.1770 0.6519 0.7089 0.6467 0.5969 0.6208 0.5538 0.4880 0.7583 0.1811 0.6663 0.7009 0.6288 het 1309.68 101 2 29455267 . A G 1309.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.149;DP=101;Dels=0.00;FS=0.787;HRun=0;HaplotypeScore=3.6149;MQ=59.77;MQ0=0;MQRankSum=1.300;QD=12.97;ReadPosRankSum=-0.050;VQSLOD=5.7599;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,49:101:99:1340,0,1289 2 29543663 29543663 T C exonic ALK synonymous SNV ALK:NM_004304:exon7:c.A1500G:p.Q500Q 0.78 0.43 0.88 0.92 0.92 0.86 0.8716 0.5129 0.8879 0.9081 0.9187 0.9170 0.9130 0.8628 0.79 0.53 0.92 0.69 0.89 rs2293564 COSM4133810 1(thyroid) Benign|Benign not_specified|Neuroblastoma_Susceptibility RCV000244976.2|RCV000281550.1 MedGen|MedGen CN169374|CN239480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8783 0.5003 0.8845 0.8964 0.9073 0.9147 0.9182 0.8970 0.8627 0.8023 0.5071 0.8771 0.8808 0.9086 0.9241 0.9216 0.8939 het 3976.27 248 2 29543663 . T C 3976.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.420;DP=248;DS;Dels=0.00;FS=3.642;HRun=0;HaplotypeScore=9.7188;MQ=58.80;MQ0=0;MQRankSum=0.649;QD=16.03;ReadPosRankSum=-0.334;VQSLOD=3.8114;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,120:248:99:3331,0,3480 2 29940529 29940529 A T exonic ALK synonymous SNV ALK:NM_004304:exon2:c.T702A:p.P234P 0.59 0.15 0.69 0.78 0.79 0.7 0.7335 0.2422 0.7238 0.7604 0.7449 0.8111 0.7753 0.7153 0.63 0.27 0.81 0.6 0.77 rs2246745 COSM4416269 1(haematopoietic_and_lymphoid_tissue) Likely benign\x2cBenign|Benign Neuroblastoma_3\x2cnot_specified|Neuroblastoma_Susceptibility RCV000226929.2\x2cRCV000249360.2|RCV000302546.1 MedGen:OMIM\x2cMedGen|MedGen C2751681:613014\x2cCN169374|CN239480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7417 0.2304 0.7295 0.8208 0.7450 0.7457 0.8137 0.7797 0.7114 0.6361 0.2397 0.7224 0.7881 0.7342 0.7362 0.8163 0.7633 hom 4321.62 144 2 29940529 . A T 4321.62 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=59.20;MQ0=0;QD=30.01;VQSLOD=7.9933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4321,337,0 2 30975961 30975961 G T exonic CAPN13 nonsynonymous SNV CAPN13:NM_144575:exon10:c.C1045A:p.Q349K 0.057 0.0091 0.084 . 0.18 0.035 0.1214 0.0307 0.0584 0 0.1625 0.1769 0.1180 0.0419 0.14 0.034 0.19 0.054 . rs62142192 . . . . . . . . . . . . . 0.496 0.078 T 0.316 0.311 B 0.081 0.275 B 0.000 0.002 N 1 0.090 P 1.545 0.392 L -2.2 0.869 D -1.43 0.352 N 0.185 0.226 -0.979 0.351 T 0.002 0.006 T . . . 0.882 0.178 9.961 0.364 0.023 0.080 0.138 N c -0.600 -0.613 0.048 0.148 0.615 0.372 0 3.44 0.383 1.063 0.300 0.135 0.219 0.035 0.205 0.022 0.137 7.158 0.247 Peptidase C2\x2c calpain\x2c large subunit\x2c domain III . . 0.1224 0.0283 0.0709 0.1369 0.0001 0.1522 0.1843 0.1328 0.0412 0.1269 0.0288 0.0800 0.1325 0.0012 0.1586 0.1913 0.1497 hom 8079.73 239 2 30975961 . G T 8079.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.016;DP=239;DS;Dels=0.00;FS=2.651;HRun=3;HaplotypeScore=8.4535;MQ=59.69;MQ0=0;MQRankSum=-0.088;QD=33.81;ReadPosRankSum=0.316;VQSLOD=2.5862;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,236:239:99:7997,593,0 2 31178818 31178818 C T exonic GALNT14 synonymous SNV GALNT14:NM_001329097:exon5:c.G492A:p.K164K,GALNT14:NM_024572:exon5:c.G492A:p.K164K,GALNT14:NM_001253826:exon6:c.G507A:p.K169K,GALNT14:NM_001329095:exon6:c.G387A:p.K129K,GALNT14:NM_001253827:exon7:c.G432A:p.K144K,GALNT14:NM_001329096:exon7:c.G432A:p.K144K 0.13 0.057 0.11 0.2 0.15 0.14 0.1541 0.0601 0.0738 0.2059 0.1843 0.1758 0.1960 0.1406 0.13 0.064 0.17 0.11 0.24 rs2288100 COSM3758205 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1530 0.0601 0.0770 0.2763 0.2018 0.1856 0.1666 0.1645 0.1404 0.1358 0.0640 0.0800 0.3013 0.1837 0.1787 0.1599 0.1704 het 4010.70 241 2 31178818 . C T 4010.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.230;DP=241;DS;Dels=0.00;FS=0.590;HRun=2;HaplotypeScore=3.7216;MQ=59.90;MQ0=0;MQRankSum=0.053;QD=16.64;ReadPosRankSum=0.345;VQSLOD=5.7666;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:123,118:241:99:3345,0,3623 2 31562412 31562412 C T exonic XDH synonymous SNV XDH:NM_000379:exon34:c.G3717A:p.E1239E 0.04 0.051 0.026 0.0079 0.048 0.06 0.0510 0.0571 0.0222 0.0045 0.0390 0.0566 0.0430 0.0742 0.061 0.056 0.064 0.033 0.074 rs207440 COSM3758211 1(thyroid);1(large_intestine) Benign|Likely benign not_specified|Xanthinuria RCV000253683.1|RCV000385518.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0010934:C0220988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0491 0.0565 0.0214 0.0431 0.0039 0.0384 0.0595 0.0478 0.0734 0.0496 0.0548 0.0239 0.0430 0.0019 0.0401 0.0552 0.0530 het 1470.31 134 2 31562412 . C T 1470.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.373;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6669;MQ=59.05;MQ0=0;MQRankSum=0.881;QD=10.97;ReadPosRankSum=-0.455;VQSLOD=5.3789;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,59:134:99:1500,0,1984 2 31571786 31571786 A G exonic XDH synonymous SNV XDH:NM_000379:exon27:c.T3030C:p.F1010F 0.8 0.77 0.76 0.85 0.79 0.84 0.7863 0.7938 0.7465 0.8534 0.7608 0.7722 0.7903 0.8417 0.77 0.8 0.76 0.79 0.71 rs1884725 . . Benign|Benign not_specified|Xanthinuria RCV000253979.1|RCV000269283.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0010934:C0220988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7831 0.7931 0.7457 0.8220 0.8524 0.7583 0.7683 0.7687 0.8415 0.7722 0.7834 0.7351 0.8013 0.8552 0.7491 0.7642 0.7633 het 556.12 40 2 31571786 . A G 556.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.548;DP=40;Dels=0.02;FS=9.593;HRun=0;HaplotypeScore=2.7983;MQ=60.00;MQ0=0;MQRankSum=1.944;QD=13.56;ReadPosRankSum=0.476;VQSLOD=4.1125;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,22:40:99:586,0,466 2 31589847 31589847 G A exonic XDH synonymous SNV XDH:NM_000379:exon21:c.C2211T:p.I737I 0.27 0.07 0.37 0.33 0.3 0.37 0.3037 0.0851 0.4070 0.3487 0.3190 0.3010 0.2952 0.3506 0.23 0.093 0.31 0.22 0.17 rs2295475 COSM3758212 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Xanthinuria RCV000249202.1|RCV000315915.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0010934:C0220988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3096 0.0814 0.3965 0.2433 0.3414 0.3094 0.3049 0.3024 0.3504 0.2469 0.0839 0.3663 0.2185 0.3517 0.2996 0.3080 0.3098 het 1840.59 165 2 31589847 . G A 1840.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.051;DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9568;MQ=59.45;MQ0=0;MQRankSum=0.180;QD=11.16;ReadPosRankSum=0.397;VQSLOD=6.7490;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,70:165:99:1871,0,2600 2 31805880 31805880 - G exonic;splicing SRD5A2;SRD5A2 NM_000348:exon1:c.89+1->C unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 1 1 1 1 0.9999 1. 1. 1. 0.076 . rs142200057 COSN20096454;COSN20096453;COSN1082798 2(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 1980.47 49 2 31805880 . A AG 1980.47 Mask AC=2;AF=1.00;AN=2;DP=49;FS=0.000;HRun=2;HaplotypeScore=108.1491;MQ=60.94;MQ0=0;QD=40.42;set=variant2 GT:AD:DP:GQ:PL 1/1:2,47:49:99:2023,141,0 2 32667182 32667182 G C exonic BIRC6 nonsynonymous SNV BIRC6:NM_016252:exon18:c.G3994C:p.V1332L 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs60197615 COSM4591362;COSM4591363 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2898.07 96 2 32667182 . G C 2898.07 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=58.98;MQ0=0;QD=30.19;VQSLOD=8.3650;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2931,223,0 2 32822957 32822957 G A exonic BIRC6 synonymous SNV BIRC6:NM_016252:exon69:c.G13752A:p.T4584T 0.33 0.32 0.37 0.3 0.43 0.26 0.3792 0.3148 0.3239 0.2637 0.4271 0.4247 0.4228 0.3130 0.39 0.32 0.42 0.38 . rs2710625 COSM148834;COSM148835 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3782 0.3117 0.3293 0.4050 0.2584 0.4277 0.4261 0.3830 0.3136 0.3743 0.3102 0.3273 0.4106 0.2438 0.4364 0.4138 0.3633 het 607.29 63 2 32822957 . G A 607.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.066;DP=63;Dels=0.00;FS=1.026;HRun=0;HaplotypeScore=1.8490;MQ=59.41;MQ0=0;MQRankSum=0.447;QD=9.64;ReadPosRankSum=-0.022;VQSLOD=6.7635;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,26:63:99:637,0,900 2 32855615 32855615 A G exonic TTC27 synonymous SNV TTC27:NM_017735:exon2:c.A114G:p.L38L 0.99 0.95 1. 1. 1. 1. 0.9969 0.9665 0.9988 1 1 0.9997 1 0.9999 0.99 0.97 1. 0.99 0.89 rs2710623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9975 0.9667 0.9984 0.9972 1 1 0.9998 0.9985 1.0000 0.9901 0.9654 0.9988 0.9934 1 1 0.9999 1 hom 2480.39 87 2 32855615 . A G 2480.39 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.41;MQ0=0;QD=28.51;VQSLOD=8.6051;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2513,190,0 2 32983526 32983526 C T exonic TTC27 synonymous SNV TTC27:NM_001193509:exon13:c.C1470T:p.N490N,TTC27:NM_017735:exon13:c.C1620T:p.N540N 0.29 0.15 0.37 0.37 0.41 0.23 0.3617 0.1874 0.3179 0.3465 0.5122 0.4059 0.3943 0.2691 0.34 0.21 0.41 0.28 0.42 rs2273665 COSM148836 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3655 0.1871 0.3214 0.3209 0.3507 0.5081 0.4062 0.3751 0.2723 0.3566 0.1887 0.3258 0.3477 0.3373 0.5189 0.4167 0.4151 het 1239.81 95 2 32983526 . C T 1239.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.003;DP=95;Dels=0.00;FS=5.635;HRun=0;HaplotypeScore=5.6499;MQ=59.54;MQ0=0;MQRankSum=0.622;QD=13.05;ReadPosRankSum=1.262;VQSLOD=4.7630;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,48:95:99:1270,0,1413 2 33412077 33412077 G A exonic LTBP1 synonymous SNV LTBP1:NM_000627:exon2:c.G378A:p.A126A,LTBP1:NM_001166264:exon2:c.G378A:p.A126A,LTBP1:NM_001166265:exon2:c.G378A:p.A126A,LTBP1:NM_001166266:exon2:c.G378A:p.A126A,LTBP1:NM_206943:exon6:c.G1356A:p.A452A 0.37 0.27 0.45 0.37 0.48 0.32 0.4592 0.3240 0.4813 0.3930 0.5585 0.5013 0.4119 0.3565 0.44 0.33 0.5 0.38 0.4 rs1065324 COSM4001651;COSM4001652 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4611 0.3152 0.4813 0.4302 0.4 0.5525 0.4989 0.4562 0.3534 0.4566 0.3206 0.4569 0.41 0.3837 0.5607 0.5182 0.4878 hom 3178.07 101 2 33412077 . G A 3178.07 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=59.63;MQ0=0;QD=31.47;VQSLOD=9.3921;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3211,253,0 2 33447202 33447202 C T exonic LTBP1 synonymous SNV LTBP1:NM_000627:exon5:c.C882T:p.N294N,LTBP1:NM_001166264:exon5:c.C882T:p.N294N,LTBP1:NM_001166265:exon5:c.C882T:p.N294N,LTBP1:NM_001166266:exon5:c.C882T:p.N294N,LTBP1:NM_206943:exon9:c.C1860T:p.N620N 0.33 0.19 0.43 0.33 0.49 0.29 0.4312 0.2262 0.4111 0.3452 0.5557 0.4905 0.4128 0.3315 0.4 0.23 0.49 0.3 0.42 rs2290448 COSM4001656;COSM4001655 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4344 0.2228 0.4105 0.4616 0.3487 0.5481 0.4867 0.4516 0.3299 0.4223 0.2338 0.3986 0.4404 0.3368 0.5525 0.5084 0.4703 hom 2074.70 71 2 33447202 . C T 2074.70 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.82;MQ0=0;QD=29.22;VQSLOD=8.6810;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2108,166,0 2 33488419 33488419 G A exonic LTBP1 synonymous SNV LTBP1:NM_000627:exon11:c.G1599A:p.T533T,LTBP1:NM_001166264:exon11:c.G1599A:p.T533T,LTBP1:NM_001166265:exon11:c.G1440A:p.T480T,LTBP1:NM_001166266:exon11:c.G1440A:p.T480T,LTBP1:NM_206943:exon15:c.G2577A:p.T859T 0.17 0.017 0.18 0.24 0.29 0.17 0.2462 0.0545 0.1842 0.2546 0.3319 0.2936 0.2698 0.1790 0.21 0.063 0.29 0.16 0.26 rs12468099 COSM4001658;COSM4001657 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2485 0.0490 0.1869 0.2952 0.2557 0.3268 0.2907 0.2600 0.1842 0.2280 0.0563 0.2029 0.2649 0.2618 0.3185 0.3029 0.2444 het 2667.76 232 2 33488419 . G A 2667.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.880;DP=232;Dels=0.00;FS=2.951;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=-1.047;QD=11.50;ReadPosRankSum=-0.680;VQSLOD=6.1343;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,117:232:99:2698,0,2880 2 33540248 33540248 G A exonic LTBP1 synonymous SNV LTBP1:NM_000627:exon20:c.G2664A:p.P888P,LTBP1:NM_001166264:exon20:c.G2664A:p.P888P,LTBP1:NM_001166265:exon20:c.G2505A:p.P835P,LTBP1:NM_001166266:exon20:c.G2505A:p.P835P,LTBP1:NM_206943:exon24:c.G3642A:p.P1214P 0.46 0.32 0.63 0.31 0.65 0.5 0.6003 0.3696 0.6386 0.3349 0.7855 0.6577 0.6079 0.5511 0.56 0.37 0.65 0.39 0.64 rs1058840 COSM4001660;COSM4001659 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6057 0.3628 0.6285 0.5522 0.3356 0.7756 0.6600 0.6028 0.5491 0.5885 0.3751 0.6098 0.5497 0.3245 0.7755 0.6915 0.6738 hom 2213.26 72 2 33540248 . G A 2213.26 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.74;MQ0=0;QD=30.74;VQSLOD=9.0979;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:72:99:2246,181,0 2 33585796 33585796 T C exonic LTBP1 nonsynonymous SNV LTBP1:NM_001166264:exon22:c.T3029C:p.V1010A,LTBP1:NM_001166266:exon22:c.T2870C:p.V957A,LTBP1:NM_000627:exon23:c.T3155C:p.V1052A,LTBP1:NM_001166265:exon23:c.T2996C:p.V999A,LTBP1:NM_206943:exon27:c.T4133C:p.V1378A 1. 1. 1. 1. 1. 1. 0.9999 0.9999 1 1 1 0.9999 1 1 1. 1. 1. 1. 1. rs4422143 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.855 0.284 P -2.52 0.001 N -2.9 0.917 D 3.02 0.002 N 0.192 0.259 -0.934 0.435 T 0.000 0.000 T . . . 0.276 0.120 5.454 0.206 0.007 0.251 0.224 N c -1.071 -0.857 1.000 0.747 0.707 0.730 0 4.89 0.632 4.007 0.566 0.016 0.142 0.999 0.424 0.303 0.238 13.716 0.620 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|Growth factor receptor cysteine-rich domain;TB domain . . 0.9999 0.9999 1 1 1 1 0.9999 0.9998 1 1.0000 1 1 1 1 1 0.9999 1 hom 3491.96 115 2 33585796 . T C 3491.96 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=59.40;MQ0=0;QD=30.36;VQSLOD=8.6096;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3491,292,0 2 33759395 33759395 C T exonic RASGRP3 synonymous SNV RASGRP3:NM_015376:exon10:c.C1089T:p.S363S,RASGRP3:NM_001139488:exon11:c.C1089T:p.S363S,RASGRP3:NM_001349976:exon11:c.C1089T:p.S363S,RASGRP3:NM_001349979:exon11:c.C1089T:p.S363S,RASGRP3:NM_001349981:exon11:c.C1089T:p.S363S,RASGRP3:NM_001349977:exon12:c.C1089T:p.S363S,RASGRP3:NM_001349978:exon12:c.C1089T:p.S363S,RASGRP3:NM_001349980:exon12:c.C1089T:p.S363S,RASGRP3:NM_170672:exon12:c.C1089T:p.S363S,RASGRP3:NM_001349975:exon13:c.C1089T:p.S363S 0.088 0.048 0.19 0.006 0.15 0.089 0.1559 0.0669 0.2574 0.0066 0.2573 0.1700 0.1541 0.1214 0.12 0.055 0.15 0.13 . rs35933402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1373 0.0538 0.2099 0.1001 0.0051 0.2274 0.1428 0.1427 0.1002 0.1357 0.0558 0.1978 0.1 0.0025 0.2337 0.1684 0.1755 het 311.97 23 2 33759395 . C T 311.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.341;DP=23;Dels=0.00;FS=4.775;HRun=0;HaplotypeScore=0.5784;MQ=58.36;MQ0=0;MQRankSum=0.713;QD=13.56;ReadPosRankSum=1.830;VQSLOD=4.6158;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,13:23:99:342,0,260 2 33764176 33764176 A G exonic RASGRP3 nonsynonymous SNV RASGRP3:NM_015376:exon11:c.A1174G:p.T392A,RASGRP3:NM_001139488:exon12:c.A1177G:p.T393A,RASGRP3:NM_001349976:exon12:c.A1177G:p.T393A,RASGRP3:NM_001349979:exon12:c.A1174G:p.T392A,RASGRP3:NM_001349981:exon12:c.A1174G:p.T392A,RASGRP3:NM_001349977:exon13:c.A1177G:p.T393A,RASGRP3:NM_001349978:exon13:c.A1174G:p.T392A,RASGRP3:NM_001349980:exon13:c.A1174G:p.T392A,RASGRP3:NM_170672:exon13:c.A1177G:p.T393A,RASGRP3:NM_001349975:exon14:c.A1177G:p.T393A 0.052 0.0053 0.16 0.006 0.041 0.1 0.0756 0.0139 0.2706 0.0098 0.0244 0.0564 0.0604 0.1110 0.033 0.011 0.043 0.065 . rs13388394 . . . . . . . . . . . . . 0.452 0.089 T 0.131 0.256 B 0.145 0.322 B 0.000 0.843 D 0.005 0.426 P -0.205 0.041 N 1.16 0.381 T -0.82 0.255 N 0.215 0.319 -1.065 0.104 T 0.002 0.005 T . . . 1.432 0.235 12.96 0.987 0.447 0.973 0.738 D c -0.084 0.056 0.997 0.353 0.707 0.730 0 5.8 0.921 7.035 0.761 1.088 0.866 0.999 0.424 0.303 0.238 16.142 0.813 Ras guanine nucleotide exchange factor domain . . 0.0587 0.0088 0.1833 0.0523 0.0056 0.0154 0.0392 0.0552 0.0835 0.0315 0.0095 0.1559 0.0397 0.0062 0.0184 0.0416 0.0527 het 254.36 18 2 33764176 . A G 254.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.384;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9976;MQ=58.71;MQ0=0;MQRankSum=-0.971;QD=14.13;ReadPosRankSum=-1.325;VQSLOD=5.5791;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:284,0,182 2 36704144 36704144 C T exonic CRIM1 synonymous SNV CRIM1:NM_016441:exon6:c.C1104T:p.T368T 0.61 0.5 0.74 0.68 0.5 0.73 0.5731 0.5158 0.7918 0.6913 0.4621 0.5031 0.5683 0.7217 0.52 0.52 0.51 0.67 0.51 rs848547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5788 0.5163 0.7819 0.4505 0.6825 0.4686 0.5069 0.5526 0.7166 0.5180 0.5271 0.7458 0.4733 0.6731 0.4479 0.4999 0.5265 het 2015.87 121 2 36704144 . C T 2015.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.762;DP=121;DS;Dels=0.00;FS=2.301;HRun=0;HaplotypeScore=7.7270;MQ=59.50;MQ0=0;MQRankSum=2.045;QD=16.66;ReadPosRankSum=-1.505;VQSLOD=3.4477;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,69:121:99:2046,0,1302 2 37230728 37230728 T C exonic HEATR5B synonymous SNV HEATR5B:NM_019024:exon31:c.A5007G:p.V1669V 0.18 0.0061 0.16 0.53 0.086 0.17 0.1300 0.0214 0.2084 0.4959 0.1129 0.0831 0.1519 0.1472 0.058 0.021 0.077 0.2 0.066 rs1007823 COSM148839 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1328 0.0183 0.1892 0.0865 0.4952 0.1150 0.0806 0.1285 0.1444 0.0907 0.0174 0.1802 0.0695 0.4938 0.1114 0.0794 0.1059 het 1023.07 88 2 37230728 . T C 1023.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.754;DP=88;Dels=0.00;FS=1.751;HRun=0;HaplotypeScore=1.8907;MQ=57.59;MQ0=1;MQRankSum=0.999;QD=11.63;ReadPosRankSum=0.599;VQSLOD=5.0849;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,42:88:99:1053,0,1008 2 37230734 37230734 C T exonic HEATR5B synonymous SNV HEATR5B:NM_019024:exon31:c.G5001A:p.Q1667Q 0.13 0.23 0.13 0.024 0.15 0.081 0.1331 0.1973 0.0678 0.0105 0.1537 0.1578 0.1294 0.0948 0.18 0.21 0.16 0.22 0.22 rs17497654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1306 0.2007 0.0739 0.2049 0.0096 0.1483 0.1562 0.1282 0.0964 0.1635 0.2023 0.0811 0.2086 0.0136 0.1503 0.1637 0.1663 het 916.65 88 2 37230734 . C T 916.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.687;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8865;MQ=57.59;MQ0=1;MQRankSum=1.286;QD=10.42;ReadPosRankSum=0.166;VQSLOD=4.2643;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,43:88:99:947,0,1089 2 37241050 37241050 G A exonic HEATR5B synonymous SNV HEATR5B:NM_019024:exon27:c.C4218T:p.S1406S 0.26 0.048 0.27 0.53 0.19 0.33 0.2357 0.0805 0.3173 0.4939 0.2294 0.1964 0.2660 0.3013 0.15 0.076 0.18 0.24 0.14 rs17020125 COSM4133825 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2376 0.0778 0.2978 0.1567 0.4939 0.2229 0.1951 0.2283 0.3026 0.1819 0.0785 0.2828 0.1556 0.4913 0.2148 0.1937 0.2152 het 2245.01 169 2 37241050 . G A 2245.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.158;DP=169;Dels=0.00;FS=1.196;HRun=0;HaplotypeScore=4.5721;MQ=59.67;MQ0=0;MQRankSum=-0.413;QD=13.28;ReadPosRankSum=-2.086;VQSLOD=4.9130;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,84:169:99:2275,0,2425 2 37306343 37306343 G A exonic HEATR5B synonymous SNV HEATR5B:NM_019024:exon3:c.C258T:p.F86F 0.93 0.75 0.97 1. 1. 1. 0.9795 0.7782 0.9896 1 1 0.9993 0.9855 0.9997 0.92 0.78 1. 0.92 0.8 rs6743906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9833 0.7680 0.9885 0.9994 1 1 0.9991 0.9912 0.9995 0.9321 0.7635 0.9857 1 1 1 0.9991 0.9836 hom 487.19 18 2 37306343 . G A 487.19 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.07;VQSLOD=13.2436;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:39.13:520,39,0 2 37438993 37438993 G A exonic CEBPZ synonymous SNV CEBPZ:NM_005760:exon12:c.C2793T:p.S931S 0.32 0.26 0.37 0.35 0.43 0.23 0.3805 0.2771 0.2967 0.4107 0.4611 0.4201 0.3894 0.2786 0.36 0.28 0.4 0.3 0.24 rs1137437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3645 0.2718 0.2926 0.4699 0.4007 0.4557 0.3974 0.3855 0.2333 0.3675 0.2785 0.2971 0.5033 0.4035 0.4622 0.3920 0.4053 het 355.23 36 2 37438993 . G A 355.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.454;DP=36;Dels=0.00;FS=9.770;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;MQRankSum=-1.098;QD=9.87;ReadPosRankSum=-1.035;VQSLOD=4.0560;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,16:36:99:385,0,520 2 37456032 37456032 C T exonic CEBPZ nonsynonymous SNV CEBPZ:NM_005760:exon2:c.G304A:p.V102I 0.94 0.99 0.95 1. 0.85 0.89 0.8788 0.9698 0.9578 0.9995 0.8399 0.8440 0.8848 0.8594 0.88 0.96 0.84 0.97 0.61 rs2098386 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.474 0.049 N 1 0.090 P -0.975 0.012 N 4.32 0.024 T 0.01 0.069 N 0.01 0.001 -1.018 0.243 T 0.000 0.000 T . . . -2.732 0.002 0.001 0.459 0.036 0.172 0.195 N c -1.546 -1.493 1.000 0.422 0.732 0.924 0 -1.81 0.074 0.713 0.253 -0.215 0.099 0.000 0.063 0.472 0.266 3.633 0.076 . . . 0.8805 0.9727 0.9504 0.9244 0.9995 0.8408 0.8382 0.8863 0.8588 0.8860 0.9724 0.9427 0.9205 0.9994 0.8427 0.8320 0.8513 hom 1567.41 51 2 37456032 . C T 1567.41 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;QD=30.73;VQSLOD=9.3936;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1600,126,0 2 37518045 37518045 G C exonic PRKD3 synonymous SNV PRKD3:NM_005813:exon3:c.C525G:p.L175L 0.31 0.17 0.33 0.41 0.43 0.24 0.3625 0.1800 0.2798 0.4538 0.4834 0.4122 0.3722 0.2383 0.33 0.19 0.4 0.32 0.26 rs10177176 COSM4001668;COSM4001667 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3655 0.1758 0.2837 0.4794 0.4480 0.4867 0.4017 0.3915 0.2424 0.3477 0.1806 0.3031 0.5066 0.4505 0.4911 0.3956 0.4114 het 1868.30 121 2 37518045 . G C 1868.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.945;DP=121;Dels=0.01;FS=1.518;HRun=0;HaplotypeScore=6.7163;MQ=58.76;MQ0=0;MQRankSum=0.344;QD=15.31;ReadPosRankSum=0.060;VQSLOD=4.5948;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,70:121:99:1898,0,1230 2 38178406 38178406 A G exonic RMDN2 synonymous SNV RMDN2:NM_144713:exon2:c.A48G:p.R16R 0.33 0.22 0.38 0.088 0.46 0.55 0.4304 0.2657 0.3939 0.1008 0.3802 0.4771 0.4140 0.5729 0.41 0.28 0.48 0.37 0.43 rs4670799 COSM4133833 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4239 0.2620 0.3971 0.3358 0.0953 0.3725 0.4887 0.4212 0.5467 0.3816 0.2649 0.4067 0.33 0.0840 0.3852 0.4779 0.4201 het 756.93 57 2 38178406 . A G 756.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.169;DP=57;Dels=0.00;FS=5.572;HRun=1;HaplotypeScore=0.9987;MQ=59.34;MQ0=0;MQRankSum=0.120;QD=13.28;ReadPosRankSum=-0.551;VQSLOD=5.9433;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,28:57:99:787,0,772 2 38179134 38179134 G A exonic RMDN2 nonsynonymous SNV RMDN2:NM_144713:exon2:c.G776A:p.G259D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs4670800 COSM4591554 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2312.95 77 2 38179134 . G A 2312.95 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.18;MQ0=0;QD=30.04;VQSLOD=8.0283;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2346,187,0 2 38298139 38298139 T C exonic CYP1B1 nonsynonymous SNV CYP1B1:NM_000104:exon3:c.A1358G:p.N453S 0.1 0.0068 0.13 0.005 0.2 0.2 0.1547 0.0345 0.1173 0.0038 0.1476 0.1813 0.1711 0.2303 0.13 0.033 0.19 0.098 0.2 rs1800440 COSM1408011 8(soft_tissue);1(prostate);1(large_intestine) Benign|Likely benign not_specified|Primary_congenital_glaucoma RCV000153124.4|RCV000296245.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0008007:C1533041 . . . . . . . . . 0.596 0.373 P 0.306 0.395 B 0.000 0.629 D 0.000 0.508 P 2.05 0.567 M . . . . . . 0.013 0.019 -1.072 0.089 T 0.000 0.002 T . . . 4.413 0.591 24.1 0.998 0.871 0.924 0.553 D c 0.378 0.474 1.000 0.747 0.628 0.401 0 5.95 0.964 7.908 0.867 1.061 0.807 1.000 0.715 0.760 0.324 14.376 0.663 . . . 0.1538 0.0305 0.1125 0.1660 0.0033 0.1465 0.1858 0.1625 0.2278 0.1187 0.0355 0.1364 0.1755 0.0031 0.1495 0.1702 0.1214 het 1469.72 111 2 38298139 . T C 1469.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.464;DP=111;Dels=0.00;FS=3.536;HRun=0;HaplotypeScore=2.7877;MQ=58.76;MQ0=0;MQRankSum=1.590;QD=13.24;ReadPosRankSum=-0.072;VQSLOD=5.8687;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,55:111:99:1500,0,1461 2 38298150 38298150 A G exonic CYP1B1 synonymous SNV CYP1B1:NM_000104:exon3:c.T1347C:p.D449D 0.62 0.2 0.73 0.91 0.6 0.83 0.6220 0.2511 0.8058 0.8991 0.6362 0.5681 0.6432 0.7930 0.45 0.25 0.56 0.41 0.51 rs1056837 COSM3758225 1(large_intestine) Benign|Benign|Benign not_specified|Primary_congenital_glaucoma|Peters_anomaly RCV000153125.3|RCV000351205.1|RCV000387120.1 MedGen|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0008007:C1533041|HP:0000659:CN000620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6343 0.2434 0.7859 0.5090 0.9005 0.6356 0.5704 0.6282 0.7860 0.5083 0.2469 0.7584 0.4834 0.8905 0.6354 0.5701 0.5959 het 1297.60 111 2 38298150 . A G 1297.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.506;DP=111;Dels=0.00;FS=5.935;HRun=0;HaplotypeScore=2.9149;MQ=58.76;MQ0=0;MQRankSum=0.646;QD=11.69;ReadPosRankSum=-0.186;VQSLOD=5.3580;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,53:111:99:1328,0,1510 2 38298203 38298203 C G exonic CYP1B1 nonsynonymous SNV CYP1B1:NM_000104:exon3:c.G1294C:p.V432L 0.61 0.18 0.72 0.91 0.6 0.83 0.6195 0.2284 0.8051 0.8970 0.6355 0.5675 0.6432 0.7925 0.45 0.23 0.56 0.41 0.51 rs1056836 COSM1408012 1(large_intestine) Benign|drug response|drug response not_specified|paclitaxel_response_-_Efficacy|docetaxel_response_-_Efficacy RCV000153126.2|RCV000211137.1|RCV000211352.1 MedGen|MedGen|MedGen CN169374|CN236571|CN236527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6319 0.2197 0.7847 0.5069 0.8990 0.6354 0.5695 0.6260 0.7855 0.5025 0.2253 0.7590 0.4834 0.8888 0.6355 0.5710 0.5937 het 1322.60 104 2 38298203 . C G 1322.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.806;DP=104;Dels=0.00;FS=4.915;HRun=0;HaplotypeScore=0.9958;MQ=58.40;MQ0=0;MQRankSum=0.540;QD=12.72;ReadPosRankSum=-0.351;VQSLOD=5.4985;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,51:104:99:1353,0,1488 2 38536626 38536626 T G exonic ATL2 synonymous SNV ATL2:NM_001330458:exon8:c.A453C:p.R151R,ATL2:NM_001330460:exon8:c.A453C:p.R151R,ATL2:NM_001330461:exon8:c.A453C:p.R151R,ATL2:NM_001135673:exon9:c.A966C:p.R322R,ATL2:NM_001308076:exon9:c.A912C:p.R304R,ATL2:NM_001330459:exon9:c.A912C:p.R304R,ATL2:NM_001330462:exon9:c.A951C:p.R317R,ATL2:NM_001330463:exon9:c.A966C:p.R322R,ATL2:NM_001330464:exon9:c.A285C:p.R95R,ATL2:NM_022374:exon9:c.A966C:p.R322R 0.33 0.27 0.33 0.19 0.37 0.5 0.3623 0.2796 0.3327 0.1839 0.3887 0.3710 0.3352 0.4830 0.33 0.27 0.36 0.26 0.27 rs2305243 COSM148845;COSM4415686 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3623 0.2731 0.3398 0.3208 0.1805 0.3926 0.3744 0.3494 0.4835 0.3408 0.2791 0.3377 0.3742 0.1720 0.3809 0.3844 0.3507 het 843.29 72 2 38536626 . T G 843.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.586;DP=72;Dels=0.00;FS=1.002;HRun=0;HaplotypeScore=0.8321;MQ=58.63;MQ0=0;MQRankSum=0.484;QD=11.71;ReadPosRankSum=-0.304;VQSLOD=6.0618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:873,0,918 2 38537579 38537579 T C exonic ATL2 nonsynonymous SNV ATL2:NM_001330458:exon7:c.A302G:p.N101S,ATL2:NM_001330460:exon7:c.A302G:p.N101S,ATL2:NM_001330461:exon7:c.A302G:p.N101S,ATL2:NM_001135673:exon8:c.A815G:p.N272S,ATL2:NM_001308076:exon8:c.A761G:p.N254S,ATL2:NM_001330459:exon8:c.A761G:p.N254S,ATL2:NM_001330462:exon8:c.A800G:p.N267S,ATL2:NM_001330463:exon8:c.A815G:p.N272S,ATL2:NM_001330464:exon8:c.A134G:p.N45S,ATL2:NM_022374:exon8:c.A815G:p.N272S 0.014 0.0045 0.022 . 0.04 0.011 0.0330 0.0094 0.0235 0 0.0166 0.0471 0.0342 0.0214 0.036 0.011 0.049 0.011 0.049 rs34873284 COSM3758226;COSM5829460;COSM3758227 1(large_intestine) . . . . . . . . . . . 0.123 0.275 T 0.021 0.172 B 0.006 0.112 B 0.000 0.843 D 1.000 0.810 D 1.4 0.355 L -0.84 0.743 T -1.42 0.401 N 0.035 0.039 -0.842 0.525 T 0.071 0.290 T . . . 2.077 0.310 16.70 0.992 0.561 0.978 0.770 D c 0.008 0.174 1.000 0.747 0.732 0.924 0 5.11 0.691 6.155 0.714 1.061 0.807 1.000 0.715 0.999 0.750 14.098 0.644 GB1/RHD3-type guanine nucleotide-binding (G) domain|Guanylate-binding protein\x2c N-terminal|P-loop containing nucleoside triphosphate hydrolase . . 0.0320 0.0081 0.0218 0.0361 0 0.0175 0.0479 0.0385 0.0206 0.0275 0.0096 0.0298 0.0331 0.0006 0.0149 0.0433 0.0296 het 678.54 69 2 38537579 . T C 678.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.018;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=58.57;MQ0=0;MQRankSum=0.006;QD=9.83;ReadPosRankSum=-1.158;VQSLOD=6.0102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,26:69:99:709,0,1074 2 38604351 38604351 A G exonic ATL2 nonsynonymous SNV ATL2:NM_001135673:exon1:c.T52C:p.W18R,ATL2:NM_001330463:exon1:c.T52C:p.W18R,ATL2:NM_022374:exon1:c.T52C:p.W18R 0.49 0.82 0.39 0.2 0.41 0.52 0.4616 0.7658 0.3996 0.2168 0.4843 0.4373 0.4385 0.5270 0.51 0.74 0.39 0.011 0.3 rs3731847 COSM3766582;COSM3766581 1(liver) . . . . . . . . . . . 0.927 0.023 T 0.0 0.026 B 0.0 0.013 B 0.085 0.207 N 1.000 0.588 P 0 0.065 N -1.19 0.839 T 0.33 0.623 N 0.312 0.373 -0.965 0.382 T 0.000 0.000 T . . . 0.241 0.117 5.104 0.479 0.039 0.007 0.030 N c -1.074 -0.946 1.000 0.747 0.442 0.072 0 0.417 0.156 0.355 0.198 -0.423 0.059 0.096 0.225 0.975 0.474 0.609 0.007 GB1/RHD3-type guanine nucleotide-binding (G) domain ENSG00000119787.9|ENSG00000119787.9|ENSG00000119787.9|ENSG00000119787.9|ENSG00000119787.9 Adipose_Subcutaneous|Adrenal_Gland|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.4199 0.7592 0.3711 0.3377 0.1845 0.4397 0.4074 0.4015 0.5092 0.5034 0.7517 0.3878 0.3742 0.1731 0.4326 0.4262 0.4167 het 148.04 19 2 38604351 . A G 148.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DP=19;Dels=0.00;FS=5.161;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.225;QD=7.79;ReadPosRankSum=-0.127;VQSLOD=3.9766;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:178,0,321 2 39025555 39025555 G A exonic DHX57 synonymous SNV DHX57:NM_001329963:exon24:c.C3741T:p.C1247C,DHX57:NM_198963:exon24:c.C4047T:p.C1349C 0.59 0.31 0.58 0.79 0.64 0.7 0.6230 0.3488 0.5650 0.8203 0.6482 0.6328 0.6333 0.6826 0.54 0.36 0.63 0.6 0.65 rs1530853 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6261 0.3462 0.5716 0.6609 0.8157 0.6506 0.6287 0.6465 0.6765 0.5602 0.3501 0.5743 0.6126 0.8212 0.6410 0.6271 0.6551 het 1062.55 96 2 39025555 . G A 1062.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.373;DP=96;Dels=0.00;FS=2.783;HRun=0;HaplotypeScore=0.9987;MQ=59.76;MQ0=0;MQRankSum=0.150;QD=11.07;ReadPosRankSum=-0.766;VQSLOD=6.6427;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,46:96:99:1093,0,1375 2 39050141 39050141 A C exonic DHX57 synonymous SNV DHX57:NM_001329963:exon17:c.T2979G:p.S993S,DHX57:NM_198963:exon17:c.T3285G:p.S1095S 0.6 0.33 0.58 0.8 0.66 0.7 0.6356 0.3618 0.5646 0.8340 0.6680 0.6489 0.6330 0.6865 0.56 0.37 0.65 0.59 0.66 rs3770681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6384 0.3578 0.5704 0.6746 0.8268 0.6710 0.6456 0.6620 0.6808 0.5737 0.3607 0.5885 0.6291 0.8313 0.6614 0.6416 0.6605 hom 1823.39 59 2 39050141 . A C 1823.39 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4916;MQ=59.22;MQ0=0;QD=30.90;VQSLOD=9.0418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1856,147,0 2 39082344 39082344 T C exonic DHX57 nonsynonymous SNV DHX57:NM_001329963:exon8:c.A1454G:p.N485S,DHX57:NM_198963:exon8:c.A1760G:p.N587S 0.59 0.3 0.57 0.8 0.63 0.72 0.6221 0.3277 0.5504 0.8340 0.6337 0.6340 0.6145 0.6949 0.54 0.35 0.63 0.61 0.62 rs7598922 . . . . . . . . . . . . . . . . 0.002 0.090 B 0.004 0.112 B 0.238 0.158 N 0.998 0.224 P 0.055 0.082 N . . . . . . 0.012 0.001 -1.097 0.044 T 0.000 0.000 T . . . 0.054 0.099 3.119 0.891 0.180 0.310 0.240 N c -0.819 -0.674 0.085 0.160 0.732 0.924 0 1.59 0.225 0.609 0.238 0.141 0.225 0.123 0.230 0.997 0.653 9.195 0.362 DEAD/DEAH box helicase domain|Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000163214.16|ENSG00000163214.16|ENSG00000143889.11|ENSG00000163214.16|ENSG00000223922.1|ENSG00000163214.16|ENSG00000163214.16 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Liver|Lung|Skin_Sun_Exposed_Lower_leg 0.6247 0.3259 0.5592 0.6518 0.8285 0.6347 0.6303 0.6424 0.6913 0.5529 0.3300 0.5694 0.5993 0.8331 0.6307 0.6261 0.6448 het 2865.99 218 2 39082344 . T C 2865.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.022;DP=218;DS;Dels=0.00;FS=1.280;HRun=0;HaplotypeScore=2.6594;MQ=59.45;MQ0=0;MQRankSum=-1.275;QD=13.15;ReadPosRankSum=-0.621;VQSLOD=6.1158;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:119,99:218:99:2896,0,3183 2 39507417 39507417 T A exonic MAP4K3 synonymous SNV MAP4K3:NM_001270425:exon22:c.A1647T:p.T549T,MAP4K3:NM_003618:exon23:c.A1710T:p.T570T 0.63 0.2 0.74 0.8 0.85 0.72 0.7717 0.3043 0.7319 0.8097 0.8801 0.8441 0.8389 0.7334 0.67 0.32 0.84 0.58 0.8 rs3755176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7827 0.2935 0.7309 0.7959 0.8099 0.8830 0.8469 0.8127 0.7441 0.7009 0.3119 0.7440 0.8245 0.7862 0.8753 0.8643 0.8224 hom 2085.87 78 2 39507417 . T A 2085.87 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;QD=26.74;VQSLOD=6.6835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2119,160,0 2 39583446 39583446 A G exonic MAP4K3 synonymous SNV MAP4K3:NM_001270425:exon3:c.T189C:p.I63I,MAP4K3:NM_003618:exon3:c.T189C:p.I63I 0.69 0.32 0.74 0.85 0.9 0.79 0.8230 0.4026 0.7126 0.8526 0.9261 0.8988 0.8811 0.7990 0.73 0.42 0.9 0.65 0.89 rs8545 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8285 0.3934 0.7145 0.8800 0.8535 0.9252 0.8993 0.8555 0.8011 0.7609 0.4067 0.7368 0.8940 0.8350 0.9224 0.9124 0.8735 hom 5701.65 191 2 39583446 . A G 5701.65 Mask AC=2;AF=1.00;AN=2;DP=191;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7760;MQ=58.53;MQ0=0;QD=29.85;VQSLOD=8.5414;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:191:99:5665,433,0 2 42510018 42510018 A G exonic EML4 nonsynonymous SNV EML4:NM_001145076:exon7:c.A673G:p.K225E,EML4:NM_019063:exon8:c.A847G:p.K283E 1. 1. 0.99 1. 0.99 1. 0.9905 0.9969 0.9962 0.9999 0.9803 0.9864 0.9912 0.9980 0.99 1. 0.98 1. 1. rs6736913 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.629 N 0.890 0.279 P -2.915 0.000 N 0.55 0.547 T 3.68 0.001 N 0.316 0.399 -0.926 0.447 T 0.000 0.000 T . . . 1.811 0.279 15.05 0.695 0.087 0.307 0.239 N c -0.713 -0.325 1.000 0.747 0.732 0.924 0 5.89 0.947 8.101 0.893 0.138 0.222 1.000 0.715 0.294 0.236 15.366 0.741 HELP|Quinoprotein alcohol dehydrogenase-like superfamily . . 0.9904 0.9970 0.9960 0.9993 0.9999 0.9835 0.9847 0.9916 0.9978 0.9900 0.9966 0.9952 1 1 0.9831 0.9860 0.9919 hom 6973.75 227 2 42510018 . A G 6973.75 Mask AC=2;AF=1.00;AN=2;DP=227;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6102;MQ=58.85;MQ0=0;QD=30.72;VQSLOD=9.1290;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:6973,533,0 2 42515388 42515388 A G exonic EML4 nonsynonymous SNV EML4:NM_001145076:exon10:c.A970G:p.I324V,EML4:NM_019063:exon11:c.A1144G:p.I382V 0.85 0.97 0.64 0.8 0.9 0.85 0.8564 0.9453 0.5055 0.8034 0.8585 0.9041 0.8689 0.8798 0.92 0.94 0.9 0.91 0.91 rs10202624 COSM3758234 1(large_intestine) . . . . . . . . . . . 1.0 0.022 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.204 P -2.09 0.002 N 0.76 0.499 T 0.91 0.016 N 0.16 0.192 -0.938 0.430 T 0.000 0.000 T . . . 1.384 0.230 12.70 0.714 0.093 0.113 0.163 N c -0.590 -0.252 1.000 0.747 0.732 0.924 0 5.67 0.876 8.162 0.895 0.104 0.200 1.000 0.715 0.998 0.697 14.879 0.700 Quinoprotein alcohol dehydrogenase-like superfamily|WD40/YVTN repeat-like-containing domain ENSG00000115944.10|ENSG00000115944.10|ENSG00000115944.10|ENSG00000115944.10|ENSG00000162882.10|ENSG00000143924.14|ENSG00000115944.10 Adipose_Subcutaneous|Esophagus_Mucosa|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8426 0.9471 0.5148 0.8875 0.7992 0.8566 0.9071 0.8514 0.8778 0.9037 0.9443 0.5861 0.9040 0.8181 0.8613 0.9173 0.8981 hom 3671.26 127 2 42515388 . A G 3671.26 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.32;MQ0=0;QD=28.91;VQSLOD=8.1294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3671,271,0 2 42990101 42990101 G C exonic OXER1 nonsynonymous SNV OXER1:NM_148962:exon1:c.C1219G:p.L407V 0.33 0.2 0.24 0.6 0.24 0.41 0.2734 0.2290 0.2683 0.6147 0.2884 0.2155 0.2808 0.3536 0.22 0.23 0.21 0.26 0.26 rs2278586 COSM1599964 1(liver);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . 0.0 0.912 D 0.02 0.170 B 0.008 0.127 B . . . 1 0.090 P 0.55 0.145 N -0.02 0.629 T -0.39 0.136 N 0.105 0.111 -0.930 0.442 T 0.000 0.000 T . . . 1.121 0.202 11.33 0.994 0.648 0.102 0.156 N c -1.011 -0.991 1.000 0.407 0.660 0.495 0 2.94 0.330 -0.826 0.045 0.884 0.388 0.000 0.063 0.068 0.175 12.012 0.524 . ENSG00000162881.5|ENSG00000162881.5|ENSG00000162881.5|ENSG00000162881.5 Artery_Aorta|Artery_Tibial|Lung|Whole_Blood 0.2714 0.2249 0.2559 0.2251 0.5993 0.2847 0.2119 0.2467 0.3523 0.2376 0.2188 0.2494 0.1854 0.5910 0.2636 0.2041 0.2469 hom 3815.32 121 2 42990101 . G C 3815.32 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7718;MQ=59.14;MQ0=0;QD=31.53;VQSLOD=7.6497;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3815,295,0 2 42990336 42990336 T G exonic OXER1 synonymous SNV OXER1:NM_148962:exon1:c.A984C:p.R328R 0.78 0.96 0.75 0.82 0.54 0.77 0.6475 0.9049 0.8263 0.7796 0.5536 0.5490 0.6513 0.7168 0.66 0.88 0.55 0.73 0.54 rs1992286 COSM442907 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6438 0.9095 0.8016 0.6267 0.7682 0.5541 0.5391 0.6292 0.7165 0.6500 0.8990 0.7632 0.6258 0.7729 0.5344 0.5168 0.5840 hom 788.44 25 2 42990336 . T G 788.44 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.94;MQ0=0;QD=31.54;VQSLOD=7.8160;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:66.17:821,66,0 2 42990522 42990522 C T exonic OXER1 synonymous SNV OXER1:NM_148962:exon1:c.G798A:p.A266A 0.34 0.24 0.24 0.59 0.24 0.41 0.3409 0.3101 0.3551 0.6478 0.3736 0.2771 0.3407 0.3863 0.22 0.25 0.21 0.25 0.24 rs12712859 COSM3758236 1(liver);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2745 0.2529 0.2578 0.2236 0.5952 0.2856 0.2123 0.2478 0.3532 0.2425 0.2411 0.2518 0.1788 0.5835 0.2629 0.2022 0.2454 hom 652.77 22 2 42990522 . C T 652.77 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=29.67;VQSLOD=8.4946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:57.14:686,57,0 2 42990746 42990746 G A exonic OXER1 synonymous SNV OXER1:NM_148962:exon1:c.C574T:p.L192L . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.414e-06 0 0 0 0 0 1.861e-05 0 0 3.232e-05 0 0 0 0 0 6.675e-05 0 het 333.03 19 2 42990746 . G A 333.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.380;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=-0.718;QD=17.53;ReadPosRankSum=2.155;VQSLOD=4.5698;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,12:19:99:363,0,206 2 43015704 43015704 T A exonic HAAO nonsynonymous SNV HAAO:NM_012205:exon2:c.A124T:p.T42S 0.31 0.18 0.25 0.58 0.28 0.3 0.2845 0.2195 0.2852 0.5989 0.3405 0.2456 0.3128 0.2937 0.23 0.22 0.23 0.28 0.2 rs3816182 . . . . . . . . . . . . . 0.73 0.038 T 0.001 0.067 B 0.002 0.063 B 0.659 0.104 N 0.999 0.217 P 0.125 0.086 N 1.59 0.288 T -0.39 0.170 N 0.284 0.343 -0.955 0.401 T 0.000 0.000 T . . . 0.940 0.184 10.32 0.704 0.090 0.661 0.327 D c -0.361 -0.159 1.000 0.747 0.644 0.439 0 4.34 0.511 1.100 0.304 1.056 0.757 0.993 0.376 0.985 0.512 9.314 0.369 RmlC-like cupin domain|RmlC-like jelly roll fold . . 0.2885 0.2179 0.2808 0.2985 0.5897 0.3467 0.2405 0.2774 0.2944 0.2629 0.2076 0.2697 0.2384 0.5934 0.3269 0.2442 0.2689 hom 4767.57 157 2 43015704 . T A 4767.57 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9818;MQ=58.76;MQ0=0;QD=30.37;VQSLOD=8.2925;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:157:99:4767,370,0 2 43015719 43015719 T C exonic HAAO nonsynonymous SNV HAAO:NM_012205:exon2:c.A109G:p.I37V 0.86 0.89 0.89 0.8 0.76 0.95 0.8061 0.8658 0.9141 0.7723 0.7436 0.7593 0.8282 0.9236 0.79 0.85 0.76 0.85 0.74 rs3816183 COSM4133842 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.198 P -1.84 0.003 N 1.74 0.263 T 0.7 0.022 N 0.235 0.288 -0.970 0.373 T 0.000 0.000 T . . . -1.036 0.031 0.013 0.262 0.012 0.056 0.114 N c -1.155 -0.894 1.000 0.747 0.644 0.439 0 3.66 0.409 2.273 0.428 -0.882 0.027 1.000 0.715 0.752 0.322 9.320 0.369 RmlC-like cupin domain|RmlC-like jelly roll fold ENSG00000162881.5|ENSG00000226491.1|ENSG00000226491.1|ENSG00000162882.10|ENSG00000226491.1|ENSG00000162882.10|ENSG00000162882.10|ENSG00000162882.10|ENSG00000162881.5|ENSG00000162882.10|ENSG00000162881.5|ENSG00000162882.10|ENSG00000162881.5|ENSG00000162882.10 Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary 0.8042 0.8683 0.8958 0.8112 0.7661 0.7483 0.7513 0.8157 0.9218 0.7786 0.8626 0.8807 0.8146 0.7741 0.7400 0.7328 0.7766 hom 4545.51 157 2 43015719 . T C 4545.51 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2665;MQ=58.91;MQ0=0;QD=28.95;VQSLOD=8.6083;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4544,376,0 2 43452618 43452618 C T exonic ZFP36L2 nonsynonymous SNV ZFP36L2:NM_006887:exon2:c.G325A:p.G109S 0.071 0.055 0.036 0.003 0.068 0.19 0.0845 0.0564 0.0359 0.0037 0.0932 0.0755 0.0909 0.1983 0.062 0.049 0.069 0.033 0.057 rs11675632 . . . . . . . . . . . . . 0.284 0.153 T 0.047 0.206 B 0.013 0.154 B 0.001 0.434 D 1 0.810 D 0.64 0.161 N 0.89 0.456 T -0.32 0.123 N 0.063 0.048 -1.092 0.052 T 0.005 0.017 T . . . 2.283 0.336 18.06 0.997 0.808 0.046 0.102 N c -0.685 -0.554 1.000 0.747 0.442 0.072 0 3.24 0.361 -0.195 0.095 0.869 0.378 0.040 0.208 1.000 0.888 6.861 0.231 Tis11B-like protein\x2c N-terminal . . 0.0745 0.0488 0.0335 0.0753 0.0026 0.0745 0.0693 0.0632 0.1909 0.0595 0.0500 0.0290 0.0646 0.0038 0.0796 0.0672 0.0726 het 385.91 27 2 43452618 . C T 385.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.080;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7331;MQ=60.00;MQ0=0;MQRankSum=-0.427;QD=14.29;ReadPosRankSum=0.577;VQSLOD=6.0193;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,17:27:99:416,0,177 2 43903066 43903066 A G exonic C1GALT1C1L synonymous SNV C1GALT1C1L:NM_001101330:exon1:c.T396C:p.G132G 0.54 0.61 0.54 0.19 0.72 0.63 0.6447 0.6214 0.5269 0.2184 0.7105 0.7142 0.6527 0.6562 0.7 0.65 0.72 0.54 . rs3828297 COSN166080 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6430 0.6175 0.5429 0.7195 0.2122 0.7063 0.7178 0.6849 0.6569 0.6505 0.6221 0.5728 0.7053 0.2209 0.7045 0.7032 0.6622 het 4113.34 248 2 43903066 . A G 4113.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.303;DP=248;DS;Dels=0.00;FS=0.477;HRun=0;HaplotypeScore=7.2332;MQ=59.55;MQ0=0;MQRankSum=-0.117;QD=16.59;ReadPosRankSum=-0.583;VQSLOD=4.2804;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,129:248:99:3468,0,3014 2 43903354 43903354 T C exonic C1GALT1C1L synonymous SNV C1GALT1C1L:NM_001101330:exon1:c.A108G:p.Q36Q 0.5 0.58 0.51 0.16 0.69 0.56 0.6154 0.5920 0.4927 0.1885 0.6946 0.6915 0.6180 0.5982 0.67 0.62 0.7 0.48 . rs4952675 COSN166081 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6125 0.5856 0.5087 0.7104 0.1841 0.6925 0.6912 0.6564 0.5963 0.6250 0.5927 0.5359 0.6954 0.1950 0.6884 0.6779 0.6354 het 1099.48 88 2 43903354 . T C 1099.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.451;DP=88;Dels=0.00;FS=2.783;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;MQRankSum=0.668;QD=12.49;ReadPosRankSum=-0.342;VQSLOD=6.4011;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,45:88:99:1129,0,1118 2 43926943 43926943 T A exonic PLEKHH2 synonymous SNV PLEKHH2:NM_172069:exon8:c.T846A:p.P282P 0.53 0.79 0.47 0.16 0.55 0.56 0.5322 0.7682 0.4457 0.1855 0.6027 0.5463 0.5397 0.5395 0.61 0.75 0.54 0.49 0.52 rs7606783 COSM3758240 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5245 0.7668 0.4530 0.5419 0.1816 0.5966 0.5447 0.5425 0.5400 0.5859 0.7601 0.4892 0.4834 0.1877 0.5916 0.5361 0.5492 het 1114.03 98 2 43926943 . T A 1114.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.094;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9787;MQ=59.00;MQ0=0;MQRankSum=1.315;QD=11.37;ReadPosRankSum=-1.270;VQSLOD=5.5521;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,40:98:99:1144,0,1425 2 43931176 43931176 T C exonic PLEKHH2 synonymous SNV PLEKHH2:NM_172069:exon9:c.T1707C:p.N569N 0.45 0.6 0.43 0.13 0.54 0.48 0.5006 0.5809 0.4074 0.1562 0.6023 0.5432 0.5132 0.4823 0.55 0.58 0.53 0.48 0.5 rs4953002 COSM442919 1(thyroid);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4958 0.5744 0.4167 0.5322 0.1550 0.5958 0.5415 0.5194 0.4803 0.5275 0.5657 0.4527 0.4702 0.1644 0.5891 0.5354 0.5278 het 1693.41 119 2 43931176 . T C 1693.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.734;DP=119;Dels=0.00;FS=0.711;HRun=0;HaplotypeScore=5.7500;MQ=58.92;MQ0=0;MQRankSum=-0.227;QD=14.23;ReadPosRankSum=0.537;VQSLOD=5.2294;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,74:119:99:1723,0,1027 2 44004010 44004010 T C exonic DYNC2LI1 nonsynonymous SNV DYNC2LI1:NM_001193464:exon2:c.T98C:p.F33S,DYNC2LI1:NM_001348912:exon2:c.T98C:p.F33S,DYNC2LI1:NM_001348913:exon2:c.T98C:p.F33S,DYNC2LI1:NM_015522:exon2:c.T98C:p.F33S,DYNC2LI1:NM_016008:exon2:c.T98C:p.F33S 0.51 0.89 0.49 0.17 0.35 0.54 0.4359 0.8378 0.5223 0.1866 0.3452 0.3764 0.4360 0.5297 0.52 0.82 0.36 0.52 0.26 rs2288709 COSM4001680;COSM4001681 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.029 T 0.0 0.090 B 0.0 0.063 B 0.000 0.843 N 1.000 0.810 P -1.735 0.003 N 1.6 0.286 T 1.76 0.007 N 0.104 0.596 -0.989 0.328 T 0.000 0.000 T . . . 1.919 0.291 15.71 0.888 0.177 0.039 0.091 N c -0.703 -0.386 0.371 0.199 0.732 0.924 0 5.41 0.782 3.236 0.508 0.069 0.176 1.000 0.715 1.000 0.888 12.371 0.544 P-loop containing nucleoside triphosphate hydrolase ENSG00000152527.9|ENSG00000152527.9 Cells_Transformed_fibroblasts|Nerve_Tibial 0.4228 0.8390 0.5150 0.4123 0.1796 0.3391 0.3701 0.4083 0.5230 0.4882 0.8271 0.5072 0.4007 0.1815 0.3541 0.3616 0.4025 het 1494.26 108 2 44004010 . T C 1494.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.635;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.40;MQ0=0;MQRankSum=-0.397;QD=13.84;ReadPosRankSum=0.513;VQSLOD=6.4138;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,56:108:99:1524,0,1241 2 44028013 44028013 A T exonic DYNC2LI1 nonsynonymous SNV DYNC2LI1:NM_001193464:exon9:c.A691T:p.I231L,DYNC2LI1:NM_001348912:exon9:c.A688T:p.I230L,DYNC2LI1:NM_001348913:exon9:c.A691T:p.I231L,DYNC2LI1:NM_016008:exon9:c.A688T:p.I230L 0.23 0.34 0.18 0.026 0.24 0.34 0.2457 0.3420 0.1452 0.0230 0.2329 0.2500 0.2622 0.3581 0.27 0.32 0.24 0.28 0.14 rs11556157 COSM3758241 1(breast);1(large_intestine) . . . . . . . . . . . 0.662 0.047 T 0.001 0.067 B 0.002 0.063 B 0.002 0.365 N 0.980 0.251 P 0.46 0.130 N 3.46 0.053 T -0.34 0.127 N 0.218 0.346 -0.893 0.486 T 0.000 0.000 T . . . 1.050 0.195 10.94 0.812 0.131 0.840 0.428 D c -0.104 0.017 0.037 0.143 0.693 0.558 0 3.94 0.446 2.716 0.466 0.106 0.201 1.000 0.715 0.997 0.653 8.725 0.334 . ENSG00000152527.9|ENSG00000152527.9 Artery_Aorta|Esophagus_Muscularis 0.2347 0.3363 0.1477 0.2413 0.0215 0.2247 0.2490 0.2446 0.3504 0.2546 0.3259 0.1793 0.2433 0.0223 0.2403 0.2469 0.2381 het 572.91 45 2 44028013 . A T 572.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.126;DP=45;Dels=0.00;FS=1.161;HRun=1;HaplotypeScore=0.8667;MQ=57.69;MQ0=0;MQRankSum=0.765;QD=12.73;ReadPosRankSum=-0.217;VQSLOD=5.1513;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,25:45:99:603,0,457 2 44071743 44071743 A G exonic ABCG8 nonsynonymous SNV ABCG8:NM_022437:exon2:c.A161G:p.Y54C 0.43 0.13 0.35 0.85 0.37 0.54 0.4287 0.1929 0.4008 0.8702 0.4684 0.3875 0.4358 0.5122 0.32 0.2 0.39 0.32 0.3 rs4148211 COSM3758245 1(breast);1(large_intestine) Benign|Benign Sitosterolemia|not_specified RCV000315492.1|RCV000324327.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0342907:210250:ORPHA2882:238104009|CN169374 . . . . . . 0.043 0.413 D 0.321 0.313 B 0.191 0.347 B 0.000 0.491 N 0.000 0.588 P 1.895 0.505 L -2.38 0.883 D -5.18 0.835 D 0.265 0.322 -0.942 0.424 T 0.000 0.000 T . . . 4.162 0.558 23.8 0.994 0.603 0.984 0.824 D c -0.016 0.109 1.000 0.409 0.516 0.203 0 4.12 0.473 5.210 0.648 1.076 0.850 1.000 0.715 0.991 0.552 10.976 0.465 ABC transporter-like . . 0.4285 0.1863 0.3900 0.3684 0.8693 0.4492 0.3844 0.4031 0.5125 0.3651 0.1939 0.3864 0.3833 0.8784 0.4539 0.3849 0.3992 het 1261.26 92 2 44071743 . A G 1261.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.884;DP=92;Dels=0.00;FS=2.902;HRun=0;HaplotypeScore=4.7384;MQ=59.19;MQ0=0;MQRankSum=0.027;QD=13.71;ReadPosRankSum=-2.034;VQSLOD=4.8857;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,46:92:99:1291,0,996 2 44102491 44102491 C T exonic ABCG8 synonymous SNV ABCG8:NM_022437:exon11:c.C1695T:p.A565A 0.13 0.17 0.16 0.019 0.18 0.11 0.1489 0.1718 0.1245 0.0173 0.1813 0.1714 0.1560 0.1160 0.17 0.17 0.18 0.12 0.2 rs4148221 . . Likely benign Sitosterolemia RCV000276035.1 MedGen:OMIM:Orphanet:SNOMED_CT C0342907:210250:ORPHA2882:238104009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1471 0.1726 0.1259 0.1849 0.0171 0.1774 0.1689 0.1634 0.1142 0.1605 0.1692 0.1211 0.2119 0.0216 0.1849 0.1652 0.1704 het 1245.49 88 2 44102491 . C T 1245.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.535;DP=88;Dels=0.00;FS=4.234;HRun=0;HaplotypeScore=3.6029;MQ=59.58;MQ0=0;MQRankSum=0.723;QD=14.15;ReadPosRankSum=1.015;VQSLOD=5.6195;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,46:88:99:1275,0,1147 2 44104925 44104925 T C exonic ABCG8 nonsynonymous SNV ABCG8:NM_022437:exon13:c.T1895C:p.V632A 0.92 0.99 0.86 1. 0.8 0.92 0.8421 0.9601 0.8419 0.9997 0.8273 0.7891 0.8645 0.9038 0.84 0.95 0.78 0.91 0.81 rs6544718 . . Benign Sitosterolemia RCV000282782.1 MedGen:OMIM:Orphanet:SNOMED_CT C0342907:210250:ORPHA2882:238104009 . . . . . . 0.893 0.025 T 0.0 0.026 B 0.0 0.013 B 0.556 0.054 N 1 0.090 P -1.59 0.004 N 2.43 0.153 T 1.41 0.008 N 0.021 0.005 -1.008 0.276 T 0.000 0.000 T . . . -0.943 0.034 0.021 0.584 0.058 0.025 0.070 N c -1.547 -1.435 0.997 0.356 0.616 0.391 0 0.054 0.136 0.176 0.165 0.069 0.176 0.000 0.063 0.246 0.227 5.343 0.152 . . . 0.8414 0.9646 0.8462 0.9032 0.9996 0.8254 0.7796 0.8391 0.9026 0.8505 0.9603 0.8294 0.9238 0.9988 0.8170 0.7797 0.8231 hom 3782.09 117 2 44104925 . T C 3782.09 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.68;MQ0=0;QD=32.33;VQSLOD=9.6865;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3782,292,0 2 44209477 44209477 C T exonic LRPPRC synonymous SNV LRPPRC:NM_133259:exon2:c.G246A:p.Q82Q 0.5 0.68 0.55 0.037 0.74 0.47 0.6240 0.7041 0.4802 0.0350 0.7286 0.7259 0.6619 0.5277 0.72 0.7 0.74 0.58 0.65 rs6741066 COSM1408165 2(large_intestine) Likely benign|Benign not_specified|Leigh_syndrome RCV000117556.2|RCV000311110.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0023264:256000:ORPHA506:29570005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6202 0.7047 0.4830 0.7402 0.0339 0.7400 0.7290 0.6405 0.5326 0.6781 0.7029 0.5347 0.7550 0.0222 0.7353 0.7288 0.6602 hom 1752.46 67 2 44209477 . C T 1752.46 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.712;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=-0.500;QD=26.16;ReadPosRankSum=0.470;VQSLOD=8.2282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:3,64:67:64.14:1785,64,0 2 44502788 44502788 A C exonic SLC3A1 synonymous SNV SLC3A1:NM_000341:exon1:c.A114C:p.G38G 0.7 0.8 0.67 0.38 0.77 0.86 0.7328 0.7897 0.5908 0.3667 0.6807 0.7708 0.7239 0.8533 0.78 0.79 0.77 0.67 0.73 rs3738985 . . Benign Cystinuria RCV000336500.1 MedGen:OMIM:SNOMED_CT C0010691:220100:85020001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7238 0.7894 0.5994 0.7888 0.3557 0.6791 0.7751 0.7428 0.8546 0.7352 0.7927 0.6175 0.8278 0.3325 0.6810 0.7640 0.7102 het 967.71 57 2 44502788 . A C 967.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.631;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.93;MQ0=0;MQRankSum=-1.336;QD=16.98;ReadPosRankSum=-0.123;VQSLOD=6.2482;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,35:57:99:998,0,636 2 44513202 44513202 T C exonic SLC3A1 nonsynonymous SNV SLC3A1:NM_000341:exon4:c.T797C:p.F266S 0.0014 . 0.0029 . 0.004 0.001 0.0029 0.0004 0.0036 0 0.0002 0.0042 0 0.0017 0.0032 0.0005 0.0047 . . rs141587158 . . . . . . . . . . . . . 0.02 0.784 D 0.85 0.604 P 0.58 0.553 P 0.000 0.629 D 0.749 0.810 D 1.265 0.321 L -5.99 0.995 D -4.7 0.853 D 0.821 0.809 1.068 0.985 D 0.969 0.990 D 0.570 0.961 D 5.893 0.808 27.4 0.998 0.899 0.851 0.440 D c 0.415 0.391 1.000 0.467 0.487 0.133 0 3.68 0.412 1.999 0.402 0.998 0.613 1.000 0.715 0.999 0.750 10.682 0.448 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain|Glycosyl hydrolase\x2c family 13\x2c catalytic domain;Glycoside hydrolase superfamily|Glycosyl hydrolase\x2c family 13\x2c catalytic domain|Glycosyl hydrolase\x2c family 13\x2c subfamily\x2c catalytic domain . . 0.0034 0.0006 0.0040 0.0262 0 0.0001 0.0033 0.0033 0.0015 0.0018 0.0005 0.0048 0.0232 0 0.0006 0.0025 0.0010 het 2247.88 174 2 44513202 . T C 2247.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.160;DP=174;Dels=0.00;FS=4.587;HRun=0;HaplotypeScore=2.7470;MQ=59.39;MQ0=0;MQRankSum=-1.239;QD=12.92;ReadPosRankSum=-1.407;VQSLOD=3.3963;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,88:174:99:2278,0,2307 2 44547574 44547574 G A exonic SLC3A1 nonsynonymous SNV SLC3A1:NM_000341:exon10:c.G1854A:p.M618I 0.46 0.21 0.54 0.32 0.66 0.67 0.5960 0.2701 0.4998 0.3221 0.5958 0.6811 0.6013 0.6676 0.54 0.29 0.68 0.38 0.64 rs698761 COSM5425577 2(haematopoietic_and_lymphoid_tissue) Benign Cystinuria RCV000261712.1 MedGen:OMIM:SNOMED_CT C0010691:220100:85020001 . . . . . . 0.337 0.133 T 0.001 0.067 B 0.001 0.040 B 0.120 0.190 N 1 0.090 P 0.77 0.194 N -5.33 0.990 D -0.38 0.146 N 0.039 0.026 -0.903 0.477 T 0.000 0.000 T . . . -0.131 0.082 1.508 0.661 0.077 0.234 0.219 N c -1.232 -1.240 0.004 0.102 0.706 0.609 0 -1.37 0.085 -0.144 0.102 0.003 0.136 0.000 0.063 0.557 0.281 2.100 0.034 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain|Glycosyl hydrolase\x2c family 13\x2c catalytic domain|Glycosyl hydrolase\x2c family 13\x2c subfamily\x2c catalytic domain;Glycoside hydrolase superfamily|Glycosyl hydrolase\x2c family 13\x2c catalytic domain|Glycosyl hydrolase\x2c family 13\x2c subfamily\x2c catalytic domain ENSG00000138078.11|ENSG00000138078.11|ENSG00000138078.11|ENSG00000273106.1|ENSG00000138078.11 Adrenal_Gland|Artery_Tibial|Pancreas|Testis|Thyroid 0.5954 0.2598 0.5143 0.6817 0.3136 0.5918 0.6832 0.6216 0.6660 0.5224 0.2759 0.5143 0.7086 0.2877 0.5928 0.6666 0.5969 het 794.07 80 2 44547574 . G A 794.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.941;DP=80;Dels=0.00;FS=16.935;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=0.226;QD=9.93;ReadPosRankSum=1.009;VQSLOD=3.5518;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,31:80:99:824,0,1446 2 45171842 45171842 A G exonic SIX3 synonymous SNV SIX3:NM_005413:exon2:c.A942G:p.A314A 0.94 0.98 0.93 0.99 0.92 0.85 0.9215 0.9717 0.9313 0.9811 0.9147 0.9178 0.9015 0.8776 0.94 0.97 0.92 0.89 0.61 rs338074 . . Benign not_specified RCV000153953.5 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9244 0.9724 0.9312 0.9256 0.9841 0.9190 0.9198 0.9220 0.8812 0.9385 0.9753 0.9451 0.9404 0.9870 0.9232 0.9169 0.9068 hom 860.60 30 2 45171842 . A G 860.60 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.69;VQSLOD=13.4751;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:72.20:894,72,0 2 47382342 47382342 G T exonic STPG4 nonsynonymous SNV STPG4:NM_001163561:exon1:c.C49A:p.L17M,STPG4:NM_173649:exon1:c.C49A:p.L17M 0.13 0.1 0.13 0.15 0.18 0.081 0.1656 0.1285 0.0830 0.1123 0.1691 0.2088 0.1532 0.0989 0.18 0.14 0.2 0.15 0.26 rs815804 COSM4133860;COSM4133859 1(thyroid) . . . . . . . . . . . 0.026 0.486 D 0.911 0.484 P 0.474 0.451 P . . . 1 0.090 P 1.61 0.413 L 1.02 0.407 T 0.2 0.065 N 0.084 0.078 -1.042 0.168 T 0.000 0.000 T . . . -0.518 0.054 0.199 0.987 0.438 0.080 0.139 N c -0.612 -0.797 0.997 0.354 0.517 0.208 0 0.373 0.153 -0.352 0.077 0.953 0.551 0.000 0.063 0.009 0.108 11.525 0.496 . . . 0.1638 0.1245 0.0917 0.2790 0.1157 0.1717 0.2037 0.1709 0.1003 0.1733 0.1301 0.1172 0.2914 0.1120 0.1703 0.2057 0.1853 het 674.76 59 2 47382342 . G T 674.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.008;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4368;MQ=58.94;MQ0=0;MQRankSum=-1.061;QD=11.44;ReadPosRankSum=-2.008;VQSLOD=4.7807;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,26:59:99:705,0,977 2 47601106 47601106 T C exonic EPCAM nonsynonymous SNV EPCAM:NM_002354:exon3:c.T344C:p.M115T 0.67 0.89 0.52 0.83 0.47 0.5 0.5198 0.8345 0.4629 0.8267 0.6097 0.4396 0.5121 0.4887 0.57 0.83 0.43 0.62 0.45 rs1126497 COSM3927762 2(prostate) Benign|Benign|Likely benign Hereditary_cancer-predisposing_syndrome|not_specified|Lynch_syndrome RCV000162369.1|RCV000244202.1|RCV000298863.1 MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0027672:699346009|CN169374|C1333990:ORPHA144:315058005 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.060 0.222 N 1 0.090 P -1.4 0.006 N 0.05 0.619 T 2.21 0.003 N 0.058 0.529 -0.934 0.436 T 0.000 0.000 T . . . -0.486 0.056 0.238 0.739 0.102 0.076 0.135 N c -1.157 -0.973 1.000 0.747 0.778 0.996 0 1.71 0.233 0.050 0.139 -0.318 0.077 0.559 0.272 0.815 0.341 11.894 0.517 Thyroglobulin type-1 ENSG00000095002.8|ENSG00000095002.8|ENSG00000095002.8 Adipose_Subcutaneous|Artery_Tibial|Lung 0.5124 0.8448 0.4716 0.3658 0.8317 0.5980 0.4363 0.4717 0.4807 0.6033 0.8316 0.4557 0.3775 0.8403 0.6001 0.4616 0.5545 het 1567.78 116 2 47601106 . T C 1567.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.840;DP=116;Dels=0.00;FS=2.407;HRun=0;HaplotypeScore=1.8874;MQ=59.28;MQ0=0;MQRankSum=1.669;QD=13.52;ReadPosRankSum=-0.434;VQSLOD=6.4345;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,62:116:99:1598,0,1369 2 47698108 47698108 T C exonic MSH2 synonymous SNV MSH2:NM_000251:exon11:c.T1666C:p.L556L,MSH2:NM_001258281:exon12:c.T1468C:p.L490L 0.0022 . 0.0029 . 0.0089 . 0.0045 0.0015 0.0010 0 0.0054 0.0070 0.0033 0.0010 0.0058 0.0014 0.008 . . rs61756466 COSM5020835 1(soft_tissue) Benign|Benign|Benign Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified RCV000030242.3|RCV000126816.4|RCV000202289.2 MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT|MedGen C1333990:ORPHA144:315058005|C0027672:699346009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0043 0.0014 0.0022 0.0038 0 0.0038 0.0071 0.0055 0.0009 0.0040 0.0011 0.0012 0.0033 0 0.0043 0.0063 0.0041 het 944.54 66 2 47698108 . T C 944.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.145;DP=66;Dels=0.00;FS=5.502;HRun=0;HaplotypeScore=0.9332;MQ=58.95;MQ0=0;MQRankSum=-0.419;QD=14.31;ReadPosRankSum=0.135;VQSLOD=4.8559;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,36:66:99:975,0,791 2 48018081 48018081 A G exonic MSH6 synonymous SNV MSH6:NM_000179:exon2:c.A276G:p.P92P 0.087 0.084 0.12 . 0.18 0.06 0.1349 0.1058 0.0803 0.0003 0.1241 0.1823 0.1432 0.0746 0.17 0.12 0.19 0.13 0.18 rs1800932 COSM4133863 1(thyroid) Benign|Benign|Benign Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome RCV000030265.4|RCV000035321.8|RCV000162362.1 MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:SNOMED_CT C1333990:ORPHA144:315058005|CN169374|C0027672:699346009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1348 0.1030 0.0855 0.1720 0.0003 0.1229 0.1904 0.1416 0.0737 0.1314 0.1084 0.0967 0.1457 0.0012 0.1197 0.1640 0.1202 het 1526.84 138 2 48018081 . A G 1526.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.716;DP=138;Dels=0.00;FS=11.550;HRun=2;HaplotypeScore=2.8623;MQ=59.73;MQ0=0;MQRankSum=0.135;QD=11.06;ReadPosRankSum=-0.797;VQSLOD=4.4148;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,66:138:99:1557,0,1749 2 48023115 48023115 T C exonic MSH6 synonymous SNV MSH6:NM_000179:exon3:c.T540C:p.D180D 0.14 0.15 0.18 . 0.29 0.07 0.2144 0.1675 0.1109 0.0008 0.2855 0.2901 0.2093 0.0948 0.25 0.18 0.29 0.2 0.28 rs1800935 COSM3758252 1(large_intestine) Benign|Benign|Benign Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome RCV000030275.4|RCV000035326.8|RCV000131276.2 MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:SNOMED_CT C1333990:ORPHA144:315058005|CN169374|C0027672:699346009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2138 0.1677 0.1236 0.2105 0.0007 0.2765 0.3007 0.2156 0.0945 0.2281 0.1767 0.1456 0.1755 0.0019 0.2689 0.2787 0.2279 hom 1593.74 53 2 48023115 . T C 1593.74 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.07;VQSLOD=14.2319;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1627,132,0 2 48602252 48602252 C T exonic FOXN2 synonymous SNV FOXN2:NM_002158:exon7:c.C966T:p.S322S 0.26 0.12 0.21 0.46 0.31 0.2 0.2927 0.1513 0.1748 0.4400 0.4089 0.3246 0.2688 0.2131 0.27 0.16 0.32 0.17 0.25 rs17855177 COSM4417730 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2921 0.1489 0.1860 0.2415 0.4441 0.3994 0.3273 0.2767 0.2074 0.2959 0.1563 0.2229 0.2715 0.4374 0.3800 0.3470 0.2935 hom 2396.32 78 2 48602252 . C T 2396.32 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=56.40;MQ0=0;QD=30.72;VQSLOD=6.7783;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2429,190,0 2 48681868 48681868 C G exonic PPP1R21 synonymous SNV PPP1R21:NM_001135629:exon3:c.C261G:p.G87G,PPP1R21:NM_001193475:exon3:c.C261G:p.G87G,PPP1R21:NM_152994:exon3:c.C261G:p.G87G 0.031 0.0023 0.048 . 0.11 0.0061 0.0745 0.0200 0.0337 0 0.1418 0.1075 0.0629 0.0167 0.077 0.025 0.1 0.033 0.082 rs76587580 COSM3758253;COSM3758254 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0750 0.0182 0.0386 0.0420 0 0.1346 0.1124 0.0754 0.0163 0.0809 0.0221 0.0537 0.0333 0 0.1259 0.1159 0.0789 het 1211.32 148 2 48681868 . C G 1211.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.464;DP=148;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9967;MQ=58.62;MQ0=0;MQRankSum=1.243;QD=8.18;ReadPosRankSum=-1.279;VQSLOD=5.2182;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,52:148:99:1241,0,2655 2 48807796 48807796 A C exonic STON1;STON1-GTF2A1L nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.A24C:p.K8N,STON1-GTF2A1L:NM_001198593:exon2:c.A24C:p.K8N,STON1:NM_006873:exon2:c.A24C:p.K8N,STON1-GTF2A1L:NM_172311:exon2:c.A24C:p.K8N,STON1:NM_001198595:exon3:c.A24C:p.K8N 0.33 0.28 0.31 0.38 0.32 0.39 0.3362 0.2875 0.2999 0.3951 0.4469 0.3239 0.3646 0.3863 0.31 0.3 0.32 0.3 0.27 rs17039250 COSM3758255;COSM3758256 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.463 N 0.998 0.222 P -2.35 0.001 N 3.27 0.066 T 1.91 0.006 N 0.023 0.006 -0.959 0.394 T 0.000 0.000 T . . . -0.193 0.077 1.138 0.271 0.013 0.056 0.114 N c -0.969 -0.709 0.008 0.116 0.651 0.465 0 1.6 0.226 0.157 0.161 -0.327 0.075 0.960 0.334 0.996 0.625 5.418 0.156 . ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000242441.3|ENSG00000068781.16|ENSG00000068781.16|ENSG00000068781.16|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000068781.16|ENSG00000068781.16|ENSG00000242441.3|ENSG00000170820.7|ENSG00000068781.16|ENSG00000243244.1|ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000068781.16|ENSG00000170802.11|ENSG00000068781.16|ENSG00000239995.2|ENSG00000243244.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.3424 0.2893 0.2993 0.2332 0.3926 0.4505 0.3221 0.3587 0.3844 0.3461 0.2963 0.3282 0.2616 0.4272 0.4442 0.3443 0.3758 het 1472.38 153 2 48807796 . A C 1472.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.165;DP=153;Dels=0.00;FS=3.867;HRun=0;HaplotypeScore=0.0000;MQ=57.36;MQ0=0;MQRankSum=0.766;QD=9.62;ReadPosRankSum=-1.003;VQSLOD=4.2167;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,63:153:99:1502,0,2242 2 48807976 48807976 T C exonic STON1;STON1-GTF2A1L synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.T204C:p.D68D,STON1-GTF2A1L:NM_001198593:exon2:c.T204C:p.D68D,STON1:NM_006873:exon2:c.T204C:p.D68D,STON1-GTF2A1L:NM_172311:exon2:c.T204C:p.D68D,STON1:NM_001198595:exon3:c.T204C:p.D68D 0.34 0.28 0.32 0.39 0.33 0.4 0.3472 0.2889 0.3046 0.4224 0.4549 0.3341 0.3689 0.4010 0.32 0.3 0.33 0.34 0.27 rs3828340 COSM3758257;COSM3758258 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3525 0.2910 0.3178 0.2406 0.4265 0.4587 0.3334 0.3498 0.3953 0.3536 0.2983 0.3373 0.2667 0.4484 0.4536 0.3531 0.3809 het 2215.94 146 2 48807976 . T C 2215.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.524;DP=146;Dels=0.00;FS=2.169;HRun=0;HaplotypeScore=0.9979;MQ=58.85;MQ0=0;MQRankSum=0.834;QD=15.18;ReadPosRankSum=-0.770;VQSLOD=6.2594;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,83:146:99:2246,0,1613 2 48808152 48808152 G C exonic STON1;STON1-GTF2A1L nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.G380C:p.R127T,STON1-GTF2A1L:NM_001198593:exon2:c.G380C:p.R127T,STON1:NM_006873:exon2:c.G380C:p.R127T,STON1-GTF2A1L:NM_172311:exon2:c.G380C:p.R127T,STON1:NM_001198595:exon3:c.G380C:p.R127T 0.36 0.31 0.33 0.39 0.34 0.42 0.3537 0.3130 0.3088 0.4205 0.4544 0.3355 0.3790 0.4310 0.33 0.32 0.33 0.34 0.28 rs940389 COSM3758259;COSM3758260 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.03 0.457 D 0.183 0.275 B 0.085 0.279 B 0.185 0.170 N 1 0.090 P 0 0.065 N 2.92 0.099 T 0.29 0.096 N 0.011 0.012 -0.912 0.466 T 0.000 0.000 T . . . -0.086 0.086 1.838 0.700 0.089 0.135 0.177 N c -1.050 -1.026 0.122 0.169 0.732 0.924 0 2.83 0.320 1.360 0.335 0.208 0.253 0.243 0.246 0.006 0.095 7.652 0.274 . ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000242441.3|ENSG00000068781.16|ENSG00000068781.16|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000243244.1|ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000068781.16|ENSG00000068781.16|ENSG00000242441.3|ENSG00000170820.7|ENSG00000068781.16|ENSG00000243244.1|ENSG00000242441.3|ENSG00000068781.16|ENSG00000242441.3|ENSG00000068781.16|ENSG00000170802.11|ENSG00000239995.2|ENSG00000243244.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Whole_Blood 0.3554 0.3188 0.3148 0.2505 0.4230 0.4578 0.3333 0.3490 0.4133 0.3603 0.3185 0.3385 0.2733 0.4466 0.4501 0.3559 0.3816 het 1485.80 105 2 48808152 . G C 1485.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.363;DP=105;Dels=0.00;FS=13.486;HRun=0;HaplotypeScore=3.7800;MQ=59.36;MQ0=0;MQRankSum=0.549;QD=14.15;ReadPosRankSum=0.375;VQSLOD=3.5595;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,55:105:99:1516,0,1222 2 48808594 48808594 C T exonic STON1;STON1-GTF2A1L synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.C822T:p.S274S,STON1-GTF2A1L:NM_001198593:exon2:c.C822T:p.S274S,STON1:NM_006873:exon2:c.C822T:p.S274S,STON1-GTF2A1L:NM_172311:exon2:c.C822T:p.S274S,STON1:NM_001198595:exon3:c.C822T:p.S274S 0.4 0.29 0.41 0.39 0.47 0.45 0.4667 0.3189 0.3601 0.4173 0.5767 0.5017 0.5022 0.4731 0.44 0.34 0.5 0.39 0.43 rs3749142 COSM3758262;COSM3758261 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4659 0.3210 0.3732 0.4533 0.4189 0.5858 0.4959 0.4720 0.4748 0.4632 0.3285 0.4199 0.5232 0.4419 0.5873 0.5121 0.5245 het 1019.71 89 2 48808594 . C T 1019.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.041;DP=89;Dels=0.00;FS=0.811;HRun=0;HaplotypeScore=1.7791;MQ=59.74;MQ0=0;MQRankSum=0.103;QD=11.46;ReadPosRankSum=0.416;VQSLOD=6.7655;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,41:89:99:1050,0,1195 2 48808882 48808882 T A exonic STON1;STON1-GTF2A1L synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.T1110A:p.P370P,STON1-GTF2A1L:NM_001198593:exon2:c.T1110A:p.P370P,STON1:NM_006873:exon2:c.T1110A:p.P370P,STON1-GTF2A1L:NM_172311:exon2:c.T1110A:p.P370P,STON1:NM_001198595:exon3:c.T1110A:p.P370P 0.34 0.28 0.31 0.39 0.32 0.39 0.3381 0.2902 0.2995 0.4171 0.4478 0.3208 0.3601 0.3780 0.31 0.3 0.32 0.33 0.27 rs3749144 COSM3758264;COSM3758263 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3379 0.2910 0.3004 0.2267 0.4195 0.4504 0.3197 0.3209 0.3782 0.3466 0.2953 0.3282 0.2649 0.4410 0.4456 0.3441 0.3747 het 794.64 68 2 48808882 . T A 794.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.452;DP=68;Dels=0.00;FS=4.782;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-0.903;QD=11.69;ReadPosRankSum=-0.629;VQSLOD=4.3700;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,28:68:99:825,0,1075 2 48808898 48808898 C T exonic STON1;STON1-GTF2A1L synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.C1126T:p.L376L,STON1-GTF2A1L:NM_001198593:exon2:c.C1126T:p.L376L,STON1:NM_006873:exon2:c.C1126T:p.L376L,STON1-GTF2A1L:NM_172311:exon2:c.C1126T:p.L376L,STON1:NM_001198595:exon3:c.C1126T:p.L376L 0.33 0.28 0.31 0.39 0.32 0.39 0.3364 0.2897 0.2964 0.4154 0.4475 0.3207 0.3587 0.3700 0.31 0.3 0.32 0.33 0.27 rs3749145 COSM3758266;COSM3758265 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3363 0.2911 0.2979 0.2270 0.4182 0.4497 0.3195 0.3203 0.3705 0.3465 0.2951 0.3270 0.2649 0.4409 0.4455 0.3443 0.3712 het 838.06 71 2 48808898 . C T 838.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.788;DP=71;Dels=0.00;FS=0.912;HRun=1;HaplotypeScore=4.7203;MQ=58.25;MQ0=0;MQRankSum=-0.599;QD=11.80;ReadPosRankSum=0.530;VQSLOD=5.1754;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:41,30:71:99:868,0,1045 2 48809593 48809593 G T exonic STON1;STON1-GTF2A1L nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.G1821T:p.Q607H,STON1-GTF2A1L:NM_001198593:exon2:c.G1821T:p.Q607H,STON1:NM_006873:exon2:c.G1821T:p.Q607H,STON1-GTF2A1L:NM_172311:exon2:c.G1821T:p.Q607H,STON1:NM_001198595:exon3:c.G1821T:p.Q607H 0.4 0.29 0.41 0.37 0.48 0.46 0.4713 0.3198 0.3622 0.3913 0.5858 0.5097 0.5099 0.4822 0.45 0.34 0.5 0.39 0.43 rs3792234 COSM1130770;COSM1130771 2(haematopoietic_and_lymphoid_tissue);4(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.031 0.253 N 1 0.090 P -1.06 0.011 N 2.93 0.098 T 0.01 0.069 N 0.058 0.126 -0.956 0.399 T 0.000 0.000 T . . . -3.678 0.000 0.001 0.204 0.007 0.012 0.043 N c -2.413 -2.465 1.000 0.517 0.706 0.609 0 -11.3 0.001 -2.342 0.012 -3.437 0.001 0.000 0.063 0.436 0.260 7.517 0.266 Mu homology domain ENSG00000243244.1|ENSG00000170802.11 Adrenal_Gland|Nerve_Tibial 0.4698 0.3219 0.3750 0.4339 0.3936 0.5950 0.5051 0.4780 0.4834 0.4677 0.3314 0.4233 0.5 0.4199 0.5980 0.5194 0.5316 het 1594.67 131 2 48809593 . G T 1594.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.463;DP=131;Dels=0.00;FS=1.410;HRun=0;HaplotypeScore=1.4679;MQ=59.82;MQ0=0;MQRankSum=0.025;QD=12.17;ReadPosRankSum=-0.173;VQSLOD=6.8122;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,66:131:99:1625,0,1841 2 48809609 48809609 C G exonic STON1;STON1-GTF2A1L nonsynonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.C1837G:p.P613A,STON1-GTF2A1L:NM_001198593:exon2:c.C1837G:p.P613A,STON1:NM_006873:exon2:c.C1837G:p.P613A,STON1-GTF2A1L:NM_172311:exon2:c.C1837G:p.P613A,STON1:NM_001198595:exon3:c.C1837G:p.P613A 0.0014 . . . 0.007 . 0.0042 0.0006 0.0004 0 0.0132 0.0061 0.0033 0 0.0029 0.0009 0.004 . . rs149692974 . . . . . . . . . . . . . 0.01 0.564 D 0.989 0.764 D 0.844 0.688 P 0.000 0.843 D 1.000 0.548 D 2.93 0.848 M 2.01 0.213 T -3.44 0.698 D 0.513 0.702 -1.101 0.039 T 0.086 0.334 T . . . 3.050 0.427 22.4 0.995 0.671 0.973 0.738 D c 0.670 0.665 1.000 0.747 0.706 0.609 0 5.65 0.868 4.094 0.572 0.935 0.490 1.000 0.715 0.997 0.653 14.091 0.644 Mu homology domain . . 0.0038 0.0006 0.0008 0.0022 0 0.0116 0.0055 0.0042 0 0.0043 0.0006 0 0 0 0.0129 0.0052 0.0041 het 1346 118 2 48809609 . C G 1346 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.768;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1405;MQ=59.61;MQ0=0;MQRankSum=1.477;QD=11.41;ReadPosRankSum=2.018;VQSLOD=2.4267;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,53:118:99:1376,0,1688 2 48809629 48809629 G T exonic STON1;STON1-GTF2A1L synonymous SNV STON1-GTF2A1L:NM_001198594:exon1:c.G1857T:p.V619V,STON1-GTF2A1L:NM_001198593:exon2:c.G1857T:p.V619V,STON1:NM_006873:exon2:c.G1857T:p.V619V,STON1-GTF2A1L:NM_172311:exon2:c.G1857T:p.V619V,STON1:NM_001198595:exon3:c.G1857T:p.V619V 0.027 0.0015 0.037 . 0.1 0.0051 0.0662 0.0152 0.0298 0 0.1435 0.0940 0.0575 0.0159 0.067 0.02 0.091 0.033 0.098 rs17397707 COSM3758267;COSM3758268 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0672 0.0144 0.0339 0.0506 5.798e-05 0.1369 0.0972 0.0688 0.0161 0.0723 0.0188 0.0465 0.0397 0 0.1254 0.1009 0.0754 het 1231.20 106 2 48809629 . G T 1231.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.178;DP=106;Dels=0.00;FS=0.755;HRun=1;HaplotypeScore=0.8321;MQ=59.78;MQ0=0;MQRankSum=-0.070;QD=11.62;ReadPosRankSum=-0.247;VQSLOD=6.4279;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,49:106:99:1261,0,1579 2 48822381 48822381 G A exonic STON1 synonymous SNV STON1:NM_006873:exon4:c.G2148A:p.K716K,STON1:NM_001198595:exon5:c.G2148A:p.K716K 0.49 0.28 0.57 0.56 0.56 0.55 0.5226 0.3135 0.5736 0.5500 0.3611 0.5483 0.5341 0.5651 0.47 0.32 0.55 0.53 0.52 rs2140551 COSM3758269 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5256 0.3082 0.5617 0.6826 0.5476 0.3660 0.5458 0.5510 0.5701 0.4498 0.3224 0.5549 0.6667 0.5375 0.3804 0.5195 0.4633 het 768.88 57 2 48822381 . G A 768.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.349;DP=57;Dels=0.00;FS=7.533;HRun=4;HaplotypeScore=4.8203;MQ=59.23;MQ0=0;MQRankSum=-0.583;QD=13.49;ReadPosRankSum=1.301;VQSLOD=4.5535;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,29:57:99:799,0,772 2 48898798 48898798 T A exonic GTF2A1L;STON1-GTF2A1L synonymous SNV GTF2A1L:NM_001193487:exon7:c.T1206A:p.V402V,STON1-GTF2A1L:NM_001198594:exon7:c.T3279A:p.V1093V,GTF2A1L:NM_006872:exon8:c.T1308A:p.V436V,STON1-GTF2A1L:NM_001198593:exon10:c.T3420A:p.V1140V,STON1-GTF2A1L:NM_172311:exon10:c.T3420A:p.V1140V 0.98 1. 1. 1. 0.97 0.96 0.9739 0.9953 0.9887 0.9999 0.9838 0.9661 0.9736 0.9640 0.98 0.99 0.97 1. 0.99 rs3920390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9745 0.9957 0.9871 0.9613 0.9997 0.9821 0.9661 0.9734 0.9645 0.9775 0.9956 0.9857 0.9636 0.9994 0.9837 0.9630 0.9765 hom 5970.27 187 2 48898798 . T A 5970.27 Mask AC=2;AF=1.00;AN=2;DP=187;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9863;MQ=59.77;MQ0=0;QD=31.93;VQSLOD=7.9055;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,187:187:99:5969,478,0 2 48915871 48915871 A G exonic LHCGR synonymous SNV LHCGR:NM_000233:exon11:c.T1065C:p.D355D 0.59 0.25 0.66 0.92 0.64 0.61 0.6026 0.3063 0.7221 0.9301 0.5818 0.5884 0.6090 0.5995 0.5 0.31 0.59 0.51 0.61 rs11125179 . . Benign|Benign|Benign|Benign not_specified|Hypergonadotropic_hypogonadism|Gonadotropin-independent_familial_sexual_precocity|Leydig_cell_agenesis RCV000249750.1|RCV000260201.1|RCV000334166.1|RCV000388700.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|HP:0000815:C0948896|C0342549:176410:ORPHA3000:237818003|C0266432:238320:56212008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6125 0.2990 0.7080 0.6674 0.9299 0.5727 0.5835 0.6236 0.6003 0.5243 0.3172 0.6859 0.6391 0.9275 0.5719 0.5752 0.5782 hom 4377.04 134 2 48915871 . A G 4377.04 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.33;MQ0=0;QD=32.66;VQSLOD=9.1593;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4377,337,0 2 48921375 48921375 T C exonic LHCGR nonsynonymous SNV LHCGR:NM_000233:exon10:c.A935G:p.N312S 0.59 0.24 0.67 0.93 0.64 0.62 0.6376 0.3287 0.7501 0.9309 0.6049 0.6296 0.6360 0.6340 0.49 0.3 0.59 0.54 0.49 rs2293275 COSM3766585 1(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Benign|Benign|Benign not_specified|Hypergonadotropic_hypogonadism|Gonadotropin-independent_familial_sexual_precocity|Leydig_cell_agenesis RCV000247916.1|RCV000290924.1|RCV000345770.1|RCV000399694.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|HP:0000815:C0948896|C0342549:176410:ORPHA3000:237818003|C0266432:238320:56212008 . . . . . . 0.724 0.124 T 0.004 0.112 B 0.003 0.080 B 0.181 0.171 N 0.621 0.548 P 0.735 0.189 N -0.77 0.779 T 0.08 0.060 N 0.022 0.077 -0.985 0.340 T 0.000 0.000 T . . . -1.046 0.030 0.013 0.928 0.217 0.761 0.370 D c -0.548 -0.425 1.000 0.454 0.495 0.175 0 3.9 0.441 1.188 0.315 0.964 0.580 0.896 0.311 0.354 0.246 9.922 0.404 . ENSG00000068781.16|ENSG00000138039.10|ENSG00000068781.16|ENSG00000170820.7|ENSG00000068781.16|ENSG00000068781.16|ENSG00000068781.16|ENSG00000068781.16 Adipose_Subcutaneous|Adipose_Subcutaneous|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Prostate 0.6123 0.2825 0.7067 0.6680 0.9306 0.5707 0.5813 0.6289 0.6125 0.5202 0.3019 0.6850 0.6391 0.9311 0.5717 0.5758 0.5758 hom 695.87 25 2 48921375 . T C 695.87 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=27.83;VQSLOD=8.4892;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:54.18:729,54,0 2 49189921 49189921 C T exonic FSHR nonsynonymous SNV FSHR:NM_181446:exon9:c.G1961A:p.S654N,FSHR:NM_000145:exon10:c.G2039A:p.S680N 0.59 0.6 0.58 0.68 0.55 0.56 0.5727 0.5894 0.6783 0.6765 0.5481 0.5483 0.5264 0.5448 0.56 0.59 0.54 0.58 0.46 rs6166 COSM3927763 1(prostate) drug response|other|Benign|Benign Ovarian_response_to_FSH_stimulation|Ovarian_hyperstimulation_syndrome|not_specified|Ovarian_Dysgenesis RCV000017634.4|RCV000017635.6|RCV000252781.1|RCV000316299.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen C1848715|C0085083:608115:ORPHA64739:129635004|CN169374|C0342510 . . . . . . 0.97 0.033 T 0.0 0.026 B 0.0 0.040 B 0.001 0.405 N 1 0.090 P . . . -0.48 0.703 T -0.38 0.158 N 0.019 0.012 -0.922 0.453 T 0.000 0.000 T . . . 0.020 0.096 2.784 0.182 0.006 0.007 0.029 N c -0.878 -0.862 0.001 0.072 0.487 0.133 0 1.52 0.221 0.053 0.140 0.154 0.240 0.024 0.198 0.988 0.529 9.068 0.354 . ENSG00000170820.7 Testis 0.5738 0.5906 0.6704 0.4780 0.6661 0.5559 0.5480 0.5689 0.5464 0.5749 0.5838 0.6619 0.4467 0.6907 0.5527 0.5604 0.5707 het 2076.62 168 2 49189921 . C T 2076.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.258;DP=168;Dels=0.00;FS=4.503;HRun=1;HaplotypeScore=1.6553;MQ=58.61;MQ0=0;MQRankSum=-0.888;QD=12.36;ReadPosRankSum=-0.273;VQSLOD=5.4174;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,85:168:99:2107,0,2207 2 49191041 49191041 C T exonic FSHR nonsynonymous SNV FSHR:NM_181446:exon9:c.G841A:p.A281T,FSHR:NM_000145:exon10:c.G919A:p.A307T 0.49 0.24 0.58 0.66 0.55 0.54 0.5446 0.2745 0.7001 0.6596 0.5476 0.5470 0.5121 0.5365 0.45 0.29 0.54 0.48 0.34 rs6165 COSM3927764 1(bone);1(pancreas);5(prostate) drug response|Benign|Benign|Benign Ovarian_response_to_FSH_stimulation|not_specified|Ovarian_Dysgenesis|Ovarian_hyperstimulation_syndrome RCV000017633.3|RCV000252249.1|RCV000299214.1|RCV000356409.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C1848715|CN169374|C0342510|C0085083:608115:ORPHA64739:129635004 . . . . . . 0.445 0.093 T 0.002 0.090 B 0.006 0.112 B 0.929 0.075 N 1 0.090 P 1.85 0.492 L -0.06 0.636 T -0.07 0.080 N 0.091 0.323 -0.926 0.447 T 0.000 0.000 T . . . 0.603 0.152 8.174 0.690 0.086 0.045 0.100 N c -0.688 -0.604 0.000 0.055 0.487 0.133 0 1.76 0.237 0.022 0.133 -0.967 0.023 0.000 0.063 0.971 0.463 4.468 0.110 Gonadotropin hormone receptor\x2c transmembrane domain ENSG00000170820.7 Testis 0.5531 0.2700 0.6904 0.4701 0.6482 0.5553 0.5467 0.5585 0.5381 0.4883 0.2829 0.6842 0.4338 0.6746 0.5524 0.5591 0.5450 het 2988.69 249 2 49191041 . C T 2988.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.503;DP=249;DS;Dels=0.00;FS=6.187;HRun=0;HaplotypeScore=6.9618;MQ=59.01;MQ0=0;MQRankSum=0.357;QD=11.95;ReadPosRankSum=-1.054;VQSLOD=4.6205;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,118:249:99:3019,0,3578 2 54587596 54587596 C T exonic C2orf73 nonsynonymous SNV C2orf73:NM_001100396:exon5:c.C761T:p.P254L 0.68 0.64 0.75 0.64 0.79 0.58 0.7586 0.7027 0.7858 0.7153 0.7775 0.7994 0.7684 0.6299 0.76 0.69 0.8 0.66 . rs2280718 . . . . . . . . . . . . . 0.221 0.189 T 0.385 0.327 B 0.161 0.331 B 0.001 0.422 D 0.998 0.365 P 2.47 0.719 M -0.48 0.703 T -2.45 0.691 N 0.112 0.121 -0.977 0.356 T 0.000 0.000 T . . . 3.583 0.488 23.2 0.996 0.723 0.227 0.216 N c -0.422 -0.447 1.000 0.747 0.497 0.185 0 3.18 0.355 1.133 0.308 0.935 0.490 0.520 0.269 0.062 0.172 8.302 0.310 . ENSG00000177994.11|ENSG00000177994.11|ENSG00000177994.11|ENSG00000177994.11|ENSG00000177994.11 Adrenal_Gland|Lung|Pituitary|Testis|Thyroid 0.7420 0.6751 0.7595 0.7472 0.6677 0.7661 0.7899 0.7452 0.6099 0.7486 0.6708 0.7578 0.7384 0.6648 0.7656 0.7968 0.7771 hom 453.85 14 2 54587596 . C T 453.85 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=32.42;VQSLOD=9.4397;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:487,39,0 2 54858511 54858511 C T exonic SPTBN1 synonymous SNV SPTBN1:NM_178313:exon15:c.C3288T:p.N1096N,SPTBN1:NM_003128:exon16:c.C3327T:p.N1109N 0.24 0.043 0.33 0.28 0.34 0.3 0.3090 0.0787 0.3539 0.2937 0.5115 0.3178 0.3370 0.3117 0.23 0.089 0.3 0.22 0.2 rs1052788 COSM148857;COSM5653846 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3175 0.0757 0.3486 0.2237 0.2924 0.4998 0.3169 0.3158 0.3180 0.2861 0.0845 0.3365 0.2053 0.2894 0.5203 0.3412 0.3806 het 2879.45 232 2 54858511 . C T 2879.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.479;DP=232;Dels=0.00;FS=9.437;HRun=0;HaplotypeScore=2.1968;MQ=59.66;MQ0=0;MQRankSum=-0.982;QD=12.41;ReadPosRankSum=1.790;VQSLOD=3.7221;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:117,115:232:99:2909,0,2965 2 54858664 54858664 C T exonic SPTBN1 synonymous SNV SPTBN1:NM_178313:exon15:c.C3441T:p.N1147N,SPTBN1:NM_003128:exon16:c.C3480T:p.N1160N 0.12 0.13 0.095 0.081 0.17 0.08 0.1447 0.1306 0.0632 0.0972 0.1170 0.1856 0.1189 0.0833 0.17 0.13 0.19 0.15 0.16 rs2229503 COSM3758284;COSM3758285 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1391 0.1288 0.0698 0.1322 0.1029 0.1178 0.1871 0.1433 0.0828 0.1480 0.1295 0.0859 0.1358 0.1143 0.1158 0.1748 0.1303 het 1999.97 162 2 54858664 . C T 1999.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.797;DP=162;Dels=0.00;FS=4.703;HRun=0;HaplotypeScore=12.2318;MQ=59.20;MQ0=0;MQRankSum=1.030;QD=12.35;ReadPosRankSum=-0.641;VQSLOD=3.6225;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,81:162:99:2030,0,2321 2 54886347 54886347 G A exonic SPTBN1 synonymous SNV SPTBN1:NM_178313:exon30:c.G6261A:p.P2087P,SPTBN1:NM_003128:exon31:c.G6300A:p.P2100P 0.28 0.15 0.36 0.29 0.35 0.31 0.3276 0.1816 0.3698 0.3008 0.4988 0.3316 0.3529 0.3176 0.28 0.19 0.32 0.29 0.23 rs1052820 COSM148858;COSM4415088 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3352 0.1820 0.3681 0.2598 0.2988 0.4878 0.3316 0.3307 0.3229 0.3211 0.1854 0.3496 0.2383 0.2862 0.5060 0.3561 0.3916 het 2810.79 177 2 54886347 . G A 2810.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.769;DP=177;DS;Dels=0.00;FS=5.681;HRun=0;HaplotypeScore=8.8338;MQ=59.10;MQ0=0;MQRankSum=1.974;QD=15.88;ReadPosRankSum=0.564;VQSLOD=3.8504;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,112:177:99:2841,0,1163 2 55407754 55407754 C T exonic CLHC1 nonsynonymous SNV CLHC1:NM_001135598:exon9:c.G910A:p.V304I,CLHC1:NM_152385:exon11:c.G1276A:p.V426I 0.97 1. 0.99 0.98 0.97 0.89 0.9652 0.9938 0.9845 0.9769 0.9569 0.9729 0.9581 0.9 0.98 0.99 0.98 1. 0.96 rs6716066 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.400 N 1 0.588 P -1.775 0.003 N 1.1 0.390 T 0.15 0.053 N 0.037 0.039 -0.947 0.415 T 0.000 0.000 T . . . 1.064 0.196 11.02 0.737 0.101 0.024 0.067 N c -0.906 -0.655 0.747 0.233 0.638 0.428 0 3.59 0.401 1.627 0.364 0.116 0.208 0.965 0.337 0.990 0.544 7.296 0.254 Armadillo-type fold|Clathrin\x2c heavy chain\x2c linker . . 0.9655 0.9942 0.9869 0.9319 0.9792 0.9568 0.9756 0.9624 0.9010 0.9804 0.9940 0.9869 0.9305 0.9815 0.9568 0.9789 0.9756 hom 4640.31 148 2 55407754 . C T 4640.31 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3302;MQ=59.53;MQ0=0;QD=31.35;VQSLOD=9.4796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4640,373,0 2 55436934 55436934 G A exonic CLHC1 nonsynonymous SNV CLHC1:NM_001135598:exon4:c.C167T:p.A56V,CLHC1:NM_152385:exon6:c.C533T:p.A178V 0.21 0.37 0.17 0.085 0.21 0.15 0.2075 0.3570 0.1336 0.0811 0.2308 0.2266 0.2051 0.1453 0.27 0.36 0.22 0.21 0.15 rs9677948 COSM3758287;COSM3758288 1(large_intestine) . . . . . . . . . . . 0.196 0.207 T 0.953 0.523 P 0.556 0.476 P 0.052 0.229 N 0.992 0.537 P 2.52 0.738 M 2.13 0.196 T -0.6 0.178 N 0.054 0.047 -0.912 0.467 T 0.000 0.000 T . . . 3.178 0.441 22.7 0.999 0.959 0.746 0.362 D c 0.286 0.272 0.002 0.093 0.615 0.372 0 3.33 0.371 2.436 0.442 1.048 0.713 0.992 0.373 0.990 0.544 5.118 0.141 Translin-associated factor X-interacting protein 1\x2c N-terminal ENSG00000115310.13 Heart_Atrial_Appendage 0.2016 0.3586 0.1417 0.1962 0.0797 0.2279 0.2273 0.2096 0.1464 0.2475 0.3482 0.1778 0.1623 0.0742 0.2184 0.2228 0.2057 hom 2028.39 65 2 55436934 . G A 2028.39 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=31.21;VQSLOD=9.3096;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2061,166,0 2 55490819 55490819 G T exonic MTIF2 nonsynonymous SNV MTIF2:NM_001321004:exon3:c.C176A:p.T59N,MTIF2:NM_001321001:exon4:c.C176A:p.T59N,MTIF2:NM_001321002:exon4:c.C176A:p.T59N,MTIF2:NM_002453:exon4:c.C176A:p.T59N,MTIF2:NM_001005369:exon5:c.C176A:p.T59N,MTIF2:NM_001321003:exon5:c.C176A:p.T59N 0.63 0.44 0.74 0.63 0.79 0.64 0.7309 0.4975 0.7167 0.6600 0.8546 0.7779 0.7583 0.6843 0.69 0.52 0.78 0.62 0.76 rs1056445 . . . . . . . . . . . . . 0.089 0.327 T 0.028 0.184 B 0.019 0.176 B 0.688 0.102 N 1 0.090 P 0.345 0.112 N 0.38 0.576 T -0.44 0.240 N 0.023 0.100 -0.976 0.359 T 0.000 0.000 T . . . -0.957 0.034 0.019 0.470 0.038 0.045 0.100 N c -1.374 -1.356 0.017 0.129 0.732 0.924 0 1.38 0.212 -0.093 0.110 -0.601 0.044 0.000 0.063 0.024 0.140 10.626 0.445 . ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000203327.2|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11|ENSG00000162994.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Stomach|Thyroid|Whole_Blood 0.7352 0.4932 0.7107 0.6822 0.6538 0.8506 0.7815 0.7523 0.6900 0.7115 0.4980 0.7249 0.6523 0.6652 0.8517 0.8046 0.7763 het 1291.40 91 2 55490819 . G T 1291.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.545;DP=91;Dels=0.00;FS=2.826;HRun=1;HaplotypeScore=1.9811;MQ=59.13;MQ0=0;MQRankSum=0.361;QD=14.19;ReadPosRankSum=-1.607;VQSLOD=6.1803;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,46:91:99:1321,0,1286 2 55771161 55771161 A G exonic CFAP36 nonsynonymous SNV CFAP36:NM_080667:exon8:c.A728G:p.D243G,CFAP36:NM_001282761:exon9:c.A803G:p.D268G 0.83 0.98 0.9 0.48 0.94 0.8 0.8996 0.9769 0.9228 0.5090 0.9592 0.9414 0.8764 0.8482 0.95 0.97 0.94 0.89 0.9 rs1045910 COSM4001707;COSM4001706 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.973 0.216 T 0.0 0.026 B 0.0 0.013 B 0.007 0.319 N 1 0.090 P -1.115 0.009 N 2.3 0.170 T 0.32 0.040 N 0.029 0.075 -0.993 0.319 T 0.000 0.000 T . . . 1.497 0.242 13.30 0.775 0.115 0.005 0.022 N c -1.095 -0.861 0.005 0.107 0.706 0.609 0 2.01 0.254 0.280 0.184 -0.246 0.091 0.333 0.254 0.936 0.409 8.478 0.320 . ENSG00000162994.11|ENSG00000162994.11 Adipose_Subcutaneous|Artery_Tibial 0.8990 0.9781 0.9278 0.9183 0.5023 0.9609 0.9406 0.9016 0.8485 0.9328 0.9739 0.9284 0.9172 0.5161 0.9594 0.9486 0.9242 hom 2904.11 90 2 55771161 . A G 2904.11 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=58.97;MQ0=0;QD=32.27;VQSLOD=9.3880;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2937,226,0 2 55883317 55883317 G T exonic PNPT1 synonymous SNV PNPT1:NM_033109:exon17:c.C1390A:p.R464R 0.36 0.32 0.49 0.14 0.58 0.31 0.4805 0.3357 0.4289 0.1568 0.6093 0.5689 0.5342 0.3648 0.49 0.35 0.56 0.4 0.46 rs2627765 . . Benign not_specified RCV000127509.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4861 0.3340 0.4487 0.5504 0.1543 0.6180 0.5664 0.5419 0.3713 0.4869 0.3336 0.4928 0.54 0.1532 0.6122 0.5761 0.5739 het 1721.47 139 2 55883317 . G T 1721.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.604;DP=139;Dels=0.00;FS=1.346;HRun=0;HaplotypeScore=3.6753;MQ=59.10;MQ0=0;MQRankSum=0.154;QD=12.38;ReadPosRankSum=-0.124;VQSLOD=6.4306;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,72:139:99:1751,0,1659 2 55912120 55912120 T C exonic PNPT1 nonsynonymous SNV PNPT1:NM_033109:exon4:c.A361G:p.I121V 0.33 0.32 0.46 0.15 0.52 0.23 0.4287 0.3272 0.4100 0.1603 0.5612 0.5105 0.4813 0.2605 0.45 0.34 0.5 0.35 0.45 rs782572 COSM5002022 1(pancreas);1(large_intestine) Benign not_specified RCV000127514.1 MedGen CN169374 . . . . . . 0.112 0.289 T 0.001 0.067 B 0.005 0.104 B 0.040 0.241 N 0.554 0.313 P -0.895 0.014 N -0.01 0.628 T -0.68 0.195 N 0.044 0.024 -0.920 0.456 T 0.000 0.000 T . . . 1.471 0.239 13.16 0.940 0.234 0.881 0.476 D c -0.553 -0.366 0.000 0.044 0.745 0.986 0 0.133 0.140 2.017 0.404 0.141 0.225 0.994 0.380 0.995 0.604 1.961 0.032 Exoribonuclease\x2c phosphorolytic domain 1|PNPase/RNase PH domain|Ribosomal protein S5 domain 2-type fold ENSG00000138035.10|ENSG00000115380.14|ENSG00000138035.10|ENSG00000138035.10 Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal 0.4326 0.3238 0.4213 0.4816 0.1553 0.5677 0.5062 0.4820 0.2618 0.4487 0.3277 0.4629 0.4371 0.1574 0.5578 0.5196 0.5224 het 827.38 73 2 55912120 . T C 827.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.694;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.36;MQ0=0;MQRankSum=0.636;QD=11.33;ReadPosRankSum=-0.006;VQSLOD=5.6545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,34:73:99:857,0,941 2 58316814 58316814 A G exonic VRK2 nonsynonymous SNV VRK2:NM_001288839:exon6:c.A145G:p.I49V,VRK2:NM_001130480:exon7:c.A499G:p.I167V,VRK2:NM_001130481:exon7:c.A499G:p.I167V,VRK2:NM_001130482:exon7:c.A430G:p.I144V,VRK2:NM_001130483:exon7:c.A499G:p.I167V,VRK2:NM_006296:exon7:c.A499G:p.I167V,VRK2:NM_001288836:exon8:c.A145G:p.I49V,VRK2:NM_001288838:exon9:c.A499G:p.I167V,VRK2:NM_001288837:exon10:c.A499G:p.I167V 0.3 0.065 0.37 0.41 0.4 0.36 0.3576 0.1032 0.3303 0.4308 0.3537 0.3975 0.3631 0.3375 0.3 0.11 0.4 0.25 0.39 rs1051061 COSM4001712 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.072 0.381 T 0.988 0.689 D 0.994 0.807 D 0.000 0.843 D 0.005 0.464 P 1.94 0.524 M 1.65 0.276 T -0.88 0.238 N 0.202 0.375 -0.936 0.433 T 0.000 0.000 T . . . 4.265 0.571 23.9 0.999 0.952 0.919 0.542 D c 0.587 0.592 0.999 0.381 0.732 0.924 0 5.67 0.876 4.875 0.625 1.140 0.893 1.000 0.715 1.000 0.888 14.879 0.700 Protein kinase domain|Protein kinase-like domain . . 0.3585 0.0959 0.3186 0.4437 0.4327 0.3530 0.3949 0.3849 0.3305 0.3098 0.1129 0.3301 0.4497 0.4170 0.3832 0.3886 0.3585 hom 4267.80 139 2 58316814 . A G 4267.80 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6828;MQ=59.55;MQ0=0;QD=30.70;VQSLOD=8.8304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4267,319,0 2 60687959 60687959 A G exonic BCL11A synonymous SNV BCL11A:NM_018014:exon4:c.T2088C:p.S696S,BCL11A:NM_022893:exon4:c.T2088C:p.S696S 0.83 0.95 0.77 1. 0.6 0.78 0.6977 0.9110 0.8664 0.9988 0.5901 0.5999 0.6359 0.7323 0.71 0.91 0.61 0.78 0.56 rs7569946 COSM3758292;COSM3758293 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7005 0.9161 0.8505 0.5612 0.9988 0.5905 0.6063 0.6540 0.7328 0.7089 0.9088 0.8118 0.5530 0.9994 0.5992 0.5886 0.6311 het 1339.99 99 2 60687959 . A G 1339.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.759;DP=99;Dels=0.00;FS=0.783;HRun=0;HaplotypeScore=2.8048;MQ=59.06;MQ0=0;MQRankSum=0.537;QD=13.54;ReadPosRankSum=-1.176;VQSLOD=6.1063;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,50:99:99:1370,0,1225 2 61175312 61175312 T C exonic PUS10 synonymous SNV PUS10:NM_001322127:exon15:c.A648G:p.K216K,PUS10:NM_001322123:exon16:c.A1317G:p.K439K,PUS10:NM_001322124:exon16:c.A1317G:p.K439K,PUS10:NM_144709:exon16:c.A1317G:p.K439K 0.46 0.57 0.53 0.17 0.69 0.31 0.5680 0.6093 0.4032 0.1750 0.6729 0.6806 0.6200 0.3628 0.65 0.61 0.68 0.6 0.72 rs12479056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5647 0.6144 0.4178 0.7457 0.1664 0.6820 0.6767 0.6317 0.3614 0.6266 0.6185 0.4844 0.7815 0.1506 0.6834 0.6753 0.6102 het 2301.91 150 2 61175312 . T C 2301.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.550;DP=150;Dels=0.00;FS=0.626;HRun=0;HaplotypeScore=2.9617;MQ=59.06;MQ0=0;MQRankSum=-0.011;QD=15.35;ReadPosRankSum=-0.665;VQSLOD=6.3175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,83:150:99:2332,0,1780 2 61304271 61304271 A G exonic KIAA1841 synonymous SNV KIAA1841:NM_001330432:exon5:c.A210G:p.K70K,KIAA1841:NM_001129993:exon6:c.A648G:p.K216K,KIAA1841:NM_001330433:exon6:c.A648G:p.K216K,KIAA1841:NM_001330434:exon6:c.A648G:p.K216K,KIAA1841:NM_001330435:exon6:c.A648G:p.K216K,KIAA1841:NM_001330436:exon6:c.A648G:p.K216K,KIAA1841:NM_032506:exon6:c.A648G:p.K216K 0.35 0.39 0.43 0.42 0.32 0.18 0.3265 0.3828 0.4104 0.4340 0.2301 0.3248 0.3091 0.2227 0.35 0.38 0.33 0.36 0.34 rs1729659 COSM4416740;COSM148865 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3271 0.3792 0.4028 0.3808 0.4351 0.2260 0.3239 0.3335 0.2234 0.3220 0.3772 0.3866 0.4404 0.4398 0.2291 0.2966 0.2673 het 1587.40 138 2 61304271 . A G 1587.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.561;DP=138;Dels=0.00;FS=9.080;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;MQRankSum=-0.402;QD=11.50;ReadPosRankSum=-1.501;VQSLOD=4.5021;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,60:138:99:1617,0,2133 2 61483548 61483548 A T exonic USP34 nonsynonymous SNV USP34:NM_014709:exon48:c.T6192A:p.H2064Q 0.021 0.003 0.027 . 0.073 0.0082 0.0413 0.0107 0.0270 0.0010 0.0293 0.0607 0.0325 0.0174 0.043 0.013 0.057 0.011 0.066 rs72811482 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 D 0.932 0.370 D -1.435 0.006 N 3.46 0.053 T 1.8 0.005 N 0.092 0.165 -0.902 0.478 T 0.000 0.002 T . . . 0.068 0.100 3.271 0.568 0.055 0.888 0.486 D c -1.046 -0.777 0.997 0.350 0.732 0.924 0 0.517 0.161 1.501 0.351 -0.135 0.110 1.000 0.715 0.998 0.697 5.771 0.174 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain ENSG00000271889.1 Lung 0.0400 0.0089 0.0302 0.0876 0.0005 0.0290 0.0576 0.0449 0.0161 0.0335 0.0116 0.0286 0.0762 0.0006 0.0284 0.0505 0.0327 hom 1862.44 63 2 61483548 . A T 1862.44 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.677;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-1.622;QD=29.56;ReadPosRankSum=1.347;VQSLOD=7.7157;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,62:63:99:1895,147,0 2 61522123 61522123 T C exonic USP34 synonymous SNV USP34:NM_014709:exon32:c.A4422G:p.E1474E 0.99 1. 0.99 1. 0.98 1. 0.9879 0.9978 0.9902 0.9997 0.9837 0.9820 0.9922 0.9993 0.99 1. 0.98 0.99 0.91 rs13014347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9879 0.9978 0.9897 0.9920 0.9998 0.9859 0.9812 0.9856 0.9994 0.9880 0.9975 0.9940 1 1 0.9871 0.9809 0.9867 hom 2432.51 81 2 61522123 . T C 2432.51 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6305;MQ=58.29;MQ0=0;QD=30.03;VQSLOD=6.0097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2466,184,0 2 61575308 61575308 A G exonic USP34 nonsynonymous SNV USP34:NM_014709:exon15:c.T1982C:p.M661T 0.99 1. 0.99 1. 0.98 0.99 0.9853 0.9973 0.9874 0.9995 0.9840 0.9798 0.9878 0.9918 0.99 1. 0.98 0.99 0.98 rs6722430 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.543 0.115 N 1 0.090 P -0.695 0.019 N 1.2 0.374 T 0.3 0.041 N 0.013 0.002 -0.980 0.350 T 0.000 0.000 T . . . -0.144 0.081 1.426 0.674 0.081 0.054 0.112 N c -0.731 -0.525 0.054 0.150 0.707 0.730 0 3.83 0.431 1.834 0.386 0.076 0.183 0.981 0.351 0.744 0.320 7.453 0.263 . . . 0.9856 0.9973 0.9874 0.9884 0.9997 0.9860 0.9794 0.9821 0.9917 0.9871 0.9969 0.9916 0.9967 1 0.9871 0.9797 0.9837 hom 2409.69 76 2 61575308 . A G 2409.69 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=31.71;VQSLOD=9.6315;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2443,199,0 2 61577435 61577435 T C exonic USP34 synonymous SNV USP34:NM_014709:exon12:c.A1467G:p.A489A 0.2 0.018 0.24 0.29 0.18 0.36 0.2056 0.0413 0.3618 0.3046 0.1109 0.1605 0.1822 0.3631 0.12 0.044 0.15 0.11 0.16 rs2166720 COSM4001720 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2086 0.0412 0.3437 0.2300 0.2984 0.1060 0.1560 0.1997 0.3561 0.1300 0.0453 0.3150 0.2285 0.3172 0.1106 0.1501 0.1487 hom 2684.57 86 2 61577435 . T C 2684.57 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=31.22;VQSLOD=9.4961;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2718,220,0 2 62066927 62066927 A G exonic FAM161A synonymous SNV FAM161A:NM_001201543:exon3:c.T1212C:p.C404C,FAM161A:NM_032180:exon3:c.T1212C:p.C404C 0.98 1. 0.94 1. 0.96 0.98 0.9759 0.9945 0.9673 0.9961 0.9912 0.9692 0.9844 0.9807 0.98 1. 0.97 0.99 0.95 rs4672457 . . Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000082296.4|RCV000273082.1 MedGen|MedGen CN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9755 0.9945 0.9646 0.9677 0.9963 0.9913 0.9692 0.9747 0.9802 0.9823 0.9928 0.9616 0.9768 0.9994 0.9880 0.9745 0.9786 hom 2916.52 85 2 62066927 . A G 2916.52 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.31;VQSLOD=13.3648;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2950,241,0 2 62081012 62081012 A C exonic FAM161A synonymous SNV FAM161A:NM_001201543:exon1:c.T165G:p.A55A,FAM161A:NM_032180:exon1:c.T165G:p.A55A 0.98 1. 0.94 1. 0.96 0.98 0.9759 0.9946 0.9672 0.9965 0.9912 0.9693 0.9844 0.9806 0.98 1. 0.97 0.99 . rs4270331 . . Benign not_specified RCV000173538.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9756 0.9946 0.9644 0.9676 0.9966 0.9913 0.9693 0.9748 0.9802 0.9822 0.9927 0.9618 0.9768 0.9994 0.9880 0.9744 0.9786 hom 1733.50 60 2 62081012 . A C 1733.50 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4525;MQ=58.20;MQ0=0;QD=28.89;VQSLOD=7.3665;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1767,141,0 2 62362995 62362995 T C exonic COMMD1 synonymous SNV COMMD1:NM_001321781:exon3:c.T294C:p.D98D,COMMD1:NM_001321782:exon3:c.T294C:p.D98D,COMMD1:NM_152516:exon3:c.T492C:p.D164D 0.046 0.03 0.06 . 0.13 0.013 0.0880 0.0394 0.0462 0.0005 0.1025 0.1295 0.0727 0.0207 0.098 0.04 0.13 0.022 0.16 rs9096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0874 0.0357 0.0541 0.1537 0.0003 0.1002 0.1277 0.0923 0.0206 0.0849 0.0359 0.0632 0.12 0.0006 0.1065 0.1175 0.0906 het 1462.77 139 2 62362995 . T C 1462.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.789;DP=139;Dels=0.00;FS=0.644;HRun=0;HaplotypeScore=0.9967;MQ=59.43;MQ0=0;MQRankSum=0.436;QD=10.52;ReadPosRankSum=-0.367;VQSLOD=6.4870;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,61:139:99:1493,0,2031 2 62729674 62729674 T C exonic TMEM17 synonymous SNV TMEM17:NM_198276:exon3:c.A216G:p.L72L 0.81 0.86 0.78 0.69 0.87 0.83 0.8545 0.8640 0.7467 0.7030 0.9112 0.8856 0.8389 0.8555 0.88 0.86 0.89 0.72 0.92 rs4672527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8515 0.8668 0.7541 0.8745 0.7015 0.9125 0.8856 0.8499 0.8568 0.8735 0.8690 0.7470 0.8742 0.7098 0.9138 0.8899 0.8959 hom 2096.35 59 2 62729674 . T C 2096.35 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;QD=35.53;VQSLOD=10.0022;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,58:59:99:2129,163,0 2 63176139 63176139 A C exonic EHBP1 nonsynonymous SNV EHBP1:NM_001142614:exon12:c.A2158C:p.K720Q,EHBP1:NM_001142615:exon13:c.A2158C:p.K720Q,EHBP1:NM_001142616:exon13:c.A2158C:p.K720Q,EHBP1:NM_015252:exon14:c.A2263C:p.K755Q 0.061 0.022 0.076 0.035 0.11 0.083 0.1060 0.0415 0.0428 0.0314 0.1372 0.1350 0.0911 0.0992 0.1 0.04 0.13 0.043 0.13 rs17432615 COSM3758299 1(large_intestine) . . . . . . . . . . . 0.015 0.524 D 0.977 0.566 D 0.854 0.591 P 0.000 0.504 D 0.315 0.333 P 2.015 0.552 M -0.9 0.749 T -0.99 0.279 N 0.093 0.160 -0.987 0.334 T 0.010 0.039 T . . . 1.078 0.198 11.10 0.991 0.528 0.994 0.951 D c 0.456 0.478 1.000 0.747 0.615 0.372 0 6.03 0.978 6.173 0.717 1.199 0.960 1.000 0.715 0.861 0.359 16.558 0.843 . ENSG00000115507.5 Whole_Blood 0.1018 0.0387 0.0466 0.0728 0.0284 0.1345 0.1358 0.0925 0.0983 0.1017 0.0412 0.0514 0.0563 0.0309 0.1360 0.1385 0.1299 het 460.07 30 2 63176139 . A C 460.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DP=30;Dels=0.00;FS=5.469;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;MQRankSum=-1.418;QD=15.34;ReadPosRankSum=-1.672;VQSLOD=4.6454;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,18:30:99:490,0,352 2 63660902 63660902 C T exonic WDPCP nonsynonymous SNV WDPCP:NM_001042692:exon3:c.G325A:p.G109S,WDPCP:NM_015910:exon9:c.G802A:p.G268S 0.017 0.0045 0.023 . 0.056 0.0082 0.0475 0.0098 0.0116 0.0002 0.1127 0.0655 0.0525 0.0205 0.045 0.011 0.06 0.033 0.041 rs17617459 . . Benign|other not_specified|Bardet-Biedl_syndrome RCV000249595.1|RCV000395293.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0752166:209900:ORPHA110:5619004 . . . . . . 0.488 0.103 T 0.022 0.174 B 0.018 0.173 B 0.000 0.449 N 0.832 0.287 N 0.625 0.159 N 1.06 0.398 T 0.1 0.058 N 0.081 0.080 -1.087 0.061 T 0.008 0.027 T . . . 0.896 0.180 10.05 0.912 0.199 0.740 0.359 D c -0.364 -0.156 0.004 0.105 0.706 0.609 0 4.56 0.555 0.648 0.243 0.935 0.490 0.988 0.363 0.957 0.436 9.621 0.387 . . . 0.0463 0.0095 0.0146 0.0216 0.0003 0.1155 0.0640 0.0411 0.0198 0.0508 0.0120 0.0143 0.0232 0 0.1127 0.0663 0.0611 het 500.96 61 2 63660902 . C T 500.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.584;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8789;MQ=57.99;MQ0=0;MQRankSum=-0.691;QD=8.21;ReadPosRankSum=0.433;VQSLOD=4.3606;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,21:61:99:531,0,1111 2 64327544 64327544 G T exonic PELI1 synonymous SNV PELI1:NM_020651:exon4:c.C291A:p.T97T 0.36 0.088 0.31 0.75 0.3 0.4 0.3365 0.1288 0.4045 0.7441 0.2897 0.3039 0.3139 0.3577 0.25 0.14 0.3 0.32 0.26 rs329498 COSM5960210 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3410 0.1235 0.3958 0.3067 0.7397 0.2778 0.3059 0.3278 0.3545 0.2649 0.1284 0.3864 0.2947 0.7259 0.2783 0.2827 0.2860 hom 3652.45 113 2 64327544 . G T 3652.45 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=32.32;VQSLOD=9.2046;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3652,274,0 2 64327592 64327592 T C exonic PELI1 synonymous SNV PELI1:NM_020651:exon4:c.A243G:p.L81L 0.35 0.069 0.31 0.75 0.3 0.4 0.3352 0.1113 0.4035 0.7439 0.2907 0.3045 0.3128 0.3577 0.24 0.12 0.3 0.3 0.3 rs329497 COSM3758303 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3412 0.1059 0.3972 0.3077 0.7404 0.2799 0.3069 0.3292 0.3559 0.2609 0.1144 0.3876 0.2947 0.7241 0.2779 0.2825 0.2883 hom 4595.28 158 2 64327592 . T C 4595.28 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4989;MQ=59.09;MQ0=0;QD=29.08;VQSLOD=7.9459;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4595,343,0 2 65217089 65217089 G C exonic SLC1A4 synonymous SNV SLC1A4:NM_003038:exon1:c.G312C:p.S104S 0.18 0.18 0.12 0.24 0.17 0.16 0.2578 0.2887 0.3030 0.3548 0.3473 0.2776 0.2578 0.1756 0.15 0.16 0.14 0.16 0.074 rs7559202 COSM1752609 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1489 0.1756 0.1285 0.1659 0.2063 0.1389 0.1445 0.1465 0.1454 0.1508 0.1770 0.1432 0.1656 0.2033 0.1424 0.1329 0.1360 het 187.48 16 2 65217089 . G C 187.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.905;DP=16;Dels=0.00;FS=2.158;HRun=1;HaplotypeScore=3.7725;MQ=57.63;MQ0=0;MQRankSum=2.329;QD=11.72;ReadPosRankSum=2.752;VQSLOD=3.1195;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,7:16:99:217,0,234 2 65245365 65245365 G A exonic SLC1A4 nonsynonymous SNV SLC1A4:NM_001193493:exon5:c.G301A:p.V101I,SLC1A4:NM_001348406:exon6:c.G535A:p.V179I,SLC1A4:NM_001348407:exon6:c.G535A:p.V179I,SLC1A4:NM_003038:exon6:c.G1195A:p.V399I 0.19 0.14 0.19 0.11 0.24 0.3 0.2401 0.1671 0.1346 0.1339 0.2347 0.2646 0.2731 0.3170 0.23 0.18 0.26 0.13 0.33 rs759458 COSM4001726 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.392 0.157 T 0.002 0.181 B 0.002 0.133 B 0.029 0.255 N 1 0.090 P 0.045 0.081 N 0.3 0.588 T -0.23 0.107 N 0.045 0.025 -1.015 0.253 T 0.000 0.000 T . . . 0.409 0.133 6.691 0.898 0.185 0.253 0.224 N c -0.993 -0.963 1.000 0.747 0.672 0.522 0 0.22 0.145 0.526 0.225 1.048 0.713 0.005 0.169 0.981 0.494 5.682 0.169 . . . 0.2351 0.1632 0.1415 0.3424 0.1307 0.2301 0.2572 0.2597 0.3167 0.2149 0.1586 0.1559 0.3444 0.1292 0.2350 0.2499 0.2612 het 1992.02 144 2 65245365 . G A 1992.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.435;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7356;MQ=59.15;MQ0=0;MQRankSum=-0.366;QD=13.83;ReadPosRankSum=0.427;VQSLOD=6.5537;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,81:144:99:2022,0,1720 2 65298647 65298649 AAC - exonic CEP68 nonframeshift deletion CEP68:NM_001319100:exon3:c.417_419del:p.T142del,CEP68:NM_001319101:exon3:c.417_419del:p.T142del,CEP68:NM_015147:exon3:c.417_419del:p.T142del 0.074 0.068 0.075 . 0.12 0.11 0.1003 0.0832 0.0498 0.0006 0.1073 0.1191 0.1123 0.1194 0.11 0.087 0.12 . . rs147392467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1002 0.0830 0.0578 0.1303 0.0005 0.1039 0.1220 0.1120 0.1172 0.0972 0.0820 0.0859 0.15 0.0012 0.1057 0.1141 0.0973 het 2216.45 106 2 65298646 . GAAC G 2216.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.471;DP=106;FS=1.625;HRun=0;HaplotypeScore=430.4982;MQ=57.37;MQ0=0;MQRankSum=-1.150;QD=20.91;ReadPosRankSum=-0.125;set=variant2 GT:AD:DP:GQ:PL 0/1:51,55:106:99:2255,0,2633 2 65540905 65540905 C G exonic SPRED2 synonymous SNV SPRED2:NM_001128210:exon6:c.G978C:p.A326A,SPRED2:NM_181784:exon6:c.G987C:p.A329A 0.4 0.11 0.48 0.76 0.25 0.5 0.3473 0.1426 0.5918 0.7695 0.1910 0.2687 0.3086 0.4644 0.22 0.15 0.26 0.39 0.3 rs8827 COSM1409006 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3563 0.1403 0.5694 0.3791 0.7643 0.1893 0.2629 0.3350 0.4579 0.2543 0.1410 0.5048 0.3267 0.7645 0.1829 0.2648 0.2735 hom 6969.80 231 2 65540905 . C G 6969.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.592;DP=231;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.4925;MQ=59.48;MQ0=0;MQRankSum=-0.059;QD=30.17;ReadPosRankSum=0.938;VQSLOD=7.1241;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,229:231:99:6924,503,0 2 65541063 65541063 C G exonic SPRED2 nonsynonymous SNV SPRED2:NM_001128210:exon6:c.G820C:p.G274R,SPRED2:NM_181784:exon6:c.G829C:p.G277R 0.0002 . . . 0.001 . 0.0021 0.0001 0.0003 0 0.0012 0.0037 0.0034 6.081e-05 0.0029 0.0005 0.0042 . 0.0082 rs148120209 . . . . . . . . . . . . . 0.689 0.059 T 0.077 0.479 B 0.064 0.498 B 0.000 0.504 D 1.000 0.205 N 2.215 0.627 M -1.06 0.770 T -0.33 0.164 N 0.248 0.390 -0.641 0.631 T 0.387 0.743 T 0.019 0.417 T 2.281 0.335 18.04 0.995 0.693 0.314 0.241 N c -0.292 -0.298 0.990 0.318 0.706 0.609 0 4.74 0.596 0.889 0.277 0.876 0.383 0.915 0.316 0.185 0.214 8.734 0.335 . . . 0.0021 0.0001 0.0009 0.0043 0 0.0006 0.0037 0.0028 9.757e-05 0.0025 0.0002 0.0036 0.0033 0 0.0009 0.0042 0.0041 het 1814.10 150 2 65541063 . C G 1814.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.757;DP=150;Dels=0.00;FS=7.257;HRun=0;HaplotypeScore=7.2492;MQ=59.85;MQ0=0;MQRankSum=0.821;QD=12.09;ReadPosRankSum=-0.656;VQSLOD=2.7231;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,74:150:99:1844,0,2224 2 67630980 67630980 G A exonic ETAA1 nonsynonymous SNV ETAA1:NM_019002:exon5:c.G1166A:p.S389N 0.73 0.87 0.72 0.57 0.73 0.73 0.7030 0.8523 0.6192 0.5651 0.6569 0.7147 0.7301 0.7112 0.76 0.85 0.72 0.79 0.75 rs3770657 COSM148867 1(stomach);1(prostate);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.379 N 1.000 0.090 P -1.87 0.003 N 2.5 0.144 T 2.59 0.002 N 0.022 0.005 -0.980 0.350 T 0.000 0.000 T . . . -1.153 0.027 0.008 0.139 0.003 0.033 0.082 N c -1.081 -0.872 0.998 0.362 0.707 0.730 0 3.4 0.379 2.510 0.449 -0.109 0.115 1.000 0.715 0.289 0.235 8.824 0.340 . ENSG00000236780.1|ENSG00000143971.7 Brain_Cerebellum|Cells_Transformed_fibroblasts 0.6953 0.8532 0.6324 0.7559 0.5666 0.6432 0.7128 0.7259 0.7086 0.7230 0.8476 0.6894 0.7219 0.5585 0.6390 0.6914 0.6944 het 1491.28 110 2 67630980 . G A 1491.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.860;DP=110;Dels=0.00;FS=1.527;HRun=1;HaplotypeScore=2.6939;MQ=58.68;MQ0=0;MQRankSum=0.375;QD=13.56;ReadPosRankSum=0.171;VQSLOD=6.3982;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,60:110:99:1521,0,1299 2 67631831 67631831 G A exonic ETAA1 nonsynonymous SNV ETAA1:NM_019002:exon5:c.G2017A:p.E673K 0.46 0.35 0.54 0.51 0.47 0.48 0.4531 0.3355 0.4925 0.5082 0.4536 0.4563 0.4491 0.4540 0.41 0.34 0.45 0.33 0.43 rs61740794 COSM148868 1(stomach);1(kidney);6(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.986 0.079 N 1 0.090 P -1.195 0.008 N 2.43 0.153 T 1.31 0.009 N 0.023 0.006 -0.920 0.456 T 0.000 0.000 T . . . -0.114 0.083 1.631 0.114 0.002 0.025 0.069 N c -1.325 -1.226 1.000 0.500 0.722 0.854 0 2.87 0.324 0.679 0.248 0.145 0.233 0.001 0.137 0.002 0.062 5.724 0.172 . ENSG00000143971.7 Cells_Transformed_fibroblasts 0.2906 0.2217 0.3427 0.2085 0.4087 0.3303 0.2751 0.3178 0.2306 0.4211 0.3417 0.5072 0.4437 0.4875 0.4404 0.4481 0.4595 het 1224.54 108 2 67631831 . G A 1224.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.686;DP=108;Dels=0.00;FS=0.871;HRun=2;HaplotypeScore=4.4021;MQ=59.09;MQ0=0;MQRankSum=1.314;QD=11.34;ReadPosRankSum=1.109;VQSLOD=5.4971;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,47:108:99:1255,0,1629 2 67632125 67632125 C T exonic ETAA1 nonsynonymous SNV ETAA1:NM_019002:exon5:c.C2311T:p.P771S 0.75 0.92 0.72 0.57 0.73 0.73 0.7077 0.8974 0.6209 0.5650 0.6573 0.7153 0.7345 0.7117 0.78 0.89 0.72 0.8 0.74 rs3770655 COSM148869 1(stomach);1(prostate);2(large_intestine) . . . . . . . . . . . 0.879 0.025 T 0.0 0.026 B 0.0 0.013 B 0.359 0.043 N 1 0.090 P -0.345 0.033 N 2.39 0.157 T 1.55 0.007 N 0.03 0.011 -0.972 0.369 T 0.000 0.000 T . . . -2.263 0.005 0.001 0.186 0.006 0.054 0.111 N c -2.282 -2.258 1.000 0.747 0.732 0.924 0 -8.29 0.009 -0.185 0.096 -1.925 0.005 0.000 0.063 0.000 0.016 0.920 0.012 . ENSG00000236780.1|ENSG00000143971.7 Brain_Cerebellum|Cells_Transformed_fibroblasts 0.6988 0.8961 0.6345 0.7648 0.5664 0.6434 0.7127 0.7286 0.7083 0.7358 0.8901 0.6926 0.7252 0.5613 0.6389 0.6920 0.6975 het 570.86 42 2 67632125 . C T 570.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.057;DP=42;Dels=0.00;FS=2.636;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.057;QD=13.59;ReadPosRankSum=1.233;VQSLOD=6.0708;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,21:42:99:601,0,543 2 68364478 68364478 T C exonic WDR92 nonsynonymous SNV WDR92:NM_001256476:exon6:c.A721G:p.M241V,WDR92:NM_138458:exon6:c.A721G:p.M241V 0.18 0.16 0.2 0.15 0.22 0.16 0.2123 0.1542 0.2407 0.1522 0.1622 0.2446 0.2053 0.1503 0.22 0.16 0.26 0.22 0.23 rs13009282 COSM148870 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(prostate);2(large_intestine) . . . . . . . . . . . 0.114 0.286 T 0.0 0.026 B 0.001 0.040 B 0.000 0.477 D 0.026 0.391 P 1.665 0.427 L -2.53 0.894 D -1.68 0.401 N 0.318 0.429 -1.091 0.053 T 0.000 0.001 T . . . 1.491 0.242 13.27 0.954 0.264 0.957 0.654 D c -0.032 0.159 0.987 0.311 0.732 0.924 0 4.81 0.613 3.410 0.522 1.061 0.807 1.000 0.715 1.000 0.888 12.234 0.536 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.2110 0.1600 0.2316 0.2110 0.1509 0.1601 0.2482 0.2070 0.1503 0.2049 0.1632 0.2387 0.2550 0.1374 0.1617 0.2442 0.1965 het 869.35 98 2 68364478 . T C 869.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.092;DP=98;Dels=0.00;FS=0.786;HRun=0;HaplotypeScore=1.6648;MQ=59.76;MQ0=0;MQRankSum=-1.363;QD=8.87;ReadPosRankSum=-0.059;VQSLOD=5.8041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,37:98:99:899,0,1563 2 68385097 68385097 A G exonic PNO1 nonsynonymous SNV PNO1:NM_001329916:exon1:c.A31G:p.R11G,PNO1:NM_001329917:exon1:c.A31G:p.R11G,PNO1:NM_020143:exon1:c.A31G:p.R11G 0.77 0.98 0.68 0.65 0.62 0.82 0.7064 0.9334 0.7188 0.6621 0.7040 0.6537 0.7216 0.7929 0.74 0.92 0.65 0.84 0.61 rs2044693 COSM443118 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.475 0.083 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.895 0.014 N 1.51 0.309 T 0.3 0.041 N 0.13 0.149 -1.026 0.218 T 0.000 0.000 T . . . 0.516 0.143 7.553 0.724 0.096 0.000 0.003 N c -1.167 -1.091 1.000 0.747 0.442 0.072 0 2.53 0.295 0.685 0.249 0.138 0.222 0.000 0.063 0.007 0.100 6.802 0.228 . ENSG00000221823.6|ENSG00000115956.9 Artery_Tibial|Brain_Cerebellar_Hemisphere 0.7005 0.9393 0.7112 0.7055 0.6641 0.6978 0.6455 0.6966 0.7913 0.7336 0.9237 0.7261 0.6921 0.6739 0.7021 0.6391 0.7159 hom 1287.17 45 2 68385097 . A G 1287.17 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.60;VQSLOD=13.3494;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1320,105,0 2 68388823 68388823 A G exonic PNO1 synonymous SNV PNO1:NM_001329916:exon3:c.A366G:p.K122K,PNO1:NM_001329917:exon3:c.A366G:p.K122K,PNO1:NM_020143:exon3:c.A366G:p.K122K 0.34 0.081 0.35 0.49 0.33 0.54 0.3567 0.1272 0.3587 0.5053 0.4787 0.3199 0.3996 0.5179 0.24 0.13 0.3 0.28 0.31 rs1137930 COSM3758305 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3627 0.1215 0.3590 0.3525 0.5064 0.4751 0.3107 0.3668 0.5171 0.2916 0.1245 0.3565 0.3245 0.5292 0.4796 0.3085 0.3969 het 850.62 66 2 68388823 . A G 850.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.539;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7094;MQ=57.95;MQ0=0;MQRankSum=0.128;QD=12.89;ReadPosRankSum=1.975;VQSLOD=4.5217;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,33:66:99:881,0,842 2 68415767 68415767 G A exonic PPP3R1 synonymous SNV PPP3R1:NM_000945:exon3:c.C99T:p.D33D 0.52 0.52 0.48 0.49 0.42 0.65 0.4761 0.5092 0.4753 0.5133 0.5409 0.4192 0.5146 0.6380 0.42 0.48 0.39 0.54 . rs687 COSM3758306 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4739 0.4947 0.4709 0.4636 0.5118 0.5402 0.4088 0.4821 0.6351 0.4552 0.4856 0.4797 0.4 0.5360 0.5398 0.4053 0.5102 het 749.71 64 2 68415767 . G A 749.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.075;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5053;MQ=59.42;MQ0=0;MQRankSum=1.686;QD=11.71;ReadPosRankSum=-0.297;VQSLOD=5.1089;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:35,29:64:99:780,0,949 2 68607947 68607947 G T exonic PLEK nonsynonymous SNV PLEK:NM_002664:exon3:c.G291T:p.K97N 0.43 0.3 0.41 0.69 0.27 0.51 0.3537 0.2970 0.5498 0.7102 0.2567 0.2606 0.3436 0.4812 0.27 0.29 0.26 0.34 0.25 rs3816281 . . . . . . . . . . . . . 0.481 0.082 T 0.999 0.764 D 0.947 0.667 D 0.000 0.843 D 0.000 0.588 P 1.445 0.365 L 2.73 0.119 T 0.18 0.050 N 0.126 0.143 -1.123 0.021 T 0.000 0.000 T . . . 4.213 0.565 23.9 0.999 0.937 0.895 0.498 D c 0.292 0.330 1.000 0.473 0.722 0.854 0 4.0 0.455 2.237 0.425 0.143 0.228 1.000 0.715 0.995 0.604 9.895 0.403 PH domain-like|Pleckstrin homology domain ENSG00000115956.9 Whole_Blood 0.3612 0.2978 0.5311 0.3398 0.7038 0.2552 0.2562 0.3389 0.4829 0.2979 0.2972 0.5120 0.3907 0.7410 0.2712 0.2434 0.2908 het 2626.18 204 2 68607947 . G T 2626.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.463;DP=204;DS;Dels=0.00;FS=1.085;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=0.629;QD=12.87;ReadPosRankSum=0.453;VQSLOD=6.6210;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,101:204:99:2656,0,2961 2 68622914 68622914 G A exonic PLEK nonsynonymous SNV PLEK:NM_002664:exon9:c.G1019A:p.R340K 0.86 0.96 0.82 0.93 0.71 0.83 0.7864 0.9313 0.8823 0.9334 0.7196 0.7281 0.7687 0.8142 0.79 0.92 0.72 0.88 0.81 rs1063479 COSM3758308 1(large_intestine) . . . . . . . . . . . 0.939 0.022 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.189 P -0.695 0.019 N -0.87 0.746 T 0.63 0.024 N 0.015 0.003 -0.926 0.447 T 0.000 0.000 T . . . 0.822 0.172 9.597 0.819 0.134 0.280 0.232 N c -0.879 -0.604 1.000 0.747 0.632 0.406 0 4.49 0.540 4.941 0.630 -0.123 0.113 1.000 0.715 0.998 0.697 10.019 0.410 PH domain-like|Pleckstrin homology domain . . 0.7868 0.9372 0.8759 0.8104 0.9358 0.7161 0.7221 0.7645 0.8131 0.7886 0.9248 0.8675 0.8477 0.9485 0.7245 0.7027 0.7664 het 1506.61 86 2 68622914 . G A 1506.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.389;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.19;MQ0=0;MQRankSum=1.705;QD=17.52;ReadPosRankSum=0.563;VQSLOD=5.9921;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,51:86:99:1537,0,984 2 68753240 68753240 T A exonic APLF nonsynonymous SNV APLF:NM_173545:exon6:c.T670A:p.S224T 0.23 0.6 0.12 0.037 0.12 0.12 0.1543 0.5503 0.1012 0.0446 0.0879 0.1310 0.1459 0.1231 0.27 0.54 0.13 0.29 0.15 rs35002937 COSM1409065 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.542 0.115 N 1 0.090 P -1.63 0.004 N 1.96 0.223 T 0.81 0.018 N 0.005 0.000 -0.924 0.450 T 0.000 0.000 T . . . -0.570 0.051 0.147 0.659 0.077 0.001 0.009 N c -1.467 -1.297 0.000 0.042 0.638 0.428 0 3.6 0.402 0.100 0.150 0.197 0.251 0.273 0.248 0.043 0.159 4.105 0.094 . . . 0.1448 0.5553 0.1027 0.2086 0.0468 0.0907 0.1275 0.1408 0.1244 0.2344 0.5444 0.1172 0.2119 0.0476 0.0866 0.1222 0.1380 het 915.94 83 2 68753240 . T A 915.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.634;DP=83;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;MQRankSum=-0.481;QD=11.04;ReadPosRankSum=-0.646;VQSLOD=6.1789;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,37:83:99:946,0,1217 2 68765205 68765205 C T exonic APLF nonsynonymous SNV APLF:NM_173545:exon7:c.C1006T:p.L336F 0.079 0.15 0.073 0.005 0.073 0.072 0.0792 0.1411 0.0661 0.0141 0.0576 0.0827 0.0848 0.0778 0.1 0.14 0.081 0.098 0.057 rs13404469 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.434 0.047 N 1 0.090 P -1.175 0.009 N 1.88 0.239 T 1.06 0.013 N 0.013 0.002 -0.998 0.306 T 0.000 0.001 T . . . -0.455 0.058 0.284 0.681 0.083 0.000 0.002 N c -1.331 -1.204 1.000 0.747 0.638 0.428 0 4.0 0.455 0.543 0.228 -0.208 0.100 0.003 0.159 0.005 0.090 8.088 0.298 . . . 0.0779 0.1398 0.0615 0.1646 0.0147 0.0610 0.0793 0.0868 0.0785 0.0889 0.1416 0.0586 0.1623 0.0136 0.0547 0.0758 0.0726 het 1235.17 83 2 68765205 . C T 1235.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.813;DP=83;Dels=0.00;FS=2.988;HRun=2;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;MQRankSum=-0.078;QD=14.88;ReadPosRankSum=-0.244;VQSLOD=6.2691;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,48:83:99:1265,0,1050 2 68882138 68882138 G T exonic PROKR1 synonymous SNV PROKR1:NM_138964:exon3:c.G612T:p.T204T 0.0054 . 0.013 . 0.015 0.0031 0.0137 0.0033 0.0051 0 0.0364 0.0184 0.0176 0.0053 0.015 0.0043 0.02 . 0.016 rs34234285 COSM3962992 1(lung) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0145 0.0031 0.0056 0.0163 0 0.0358 0.0190 0.0113 0.0062 0.0158 0.0038 0.0048 0.0132 0 0.0332 0.0207 0.0215 het 4350.21 249 2 68882138 . G T 4350.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.825;DP=249;DS;Dels=0.00;FS=2.811;HRun=0;HaplotypeScore=7.1975;MQ=58.97;MQ0=0;MQRankSum=0.759;QD=17.47;ReadPosRankSum=-0.532;VQSLOD=3.9393;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,125:249:99:3663,0,3394 2 69049941 69049941 T C exonic ARHGAP25 nonsynonymous SNV ARHGAP25:NM_001166276:exon9:c.T1649C:p.M550T,ARHGAP25:NM_001166277:exon9:c.T1550C:p.M517T,ARHGAP25:NM_014882:exon9:c.T1646C:p.M549T,ARHGAP25:NM_001007231:exon10:c.T1670C:p.M557T 0.32 0.35 0.32 0.41 0.34 0.17 0.3141 0.3593 0.3229 0.4435 0.3259 0.3207 0.3151 0.1813 0.33 0.36 0.32 0.34 0.3 rs10177248 COSM4133895;COSM4133894 1(thyroid) . . . . . . . . . . . 0.559 0.076 T 0.0 0.026 B 0.0 0.013 B 0.781 0.067 N 1.000 0.186 P 0 0.065 N 2.89 0.441 T -1.42 0.443 N 0.016 0.323 -0.910 0.469 T 0.000 0.000 T . . . -0.852 0.038 0.033 0.329 0.019 0.191 0.203 N c -0.994 -1.017 0.762 0.235 0.625 0.396 0 -1.08 0.094 -0.034 0.121 -1.356 0.013 0.003 0.159 0.037 0.154 9.614 0.387 . . . 0.3139 0.3605 0.3250 0.2194 0.4373 0.3217 0.3290 0.3030 0.1813 0.3351 0.3692 0.3266 0.2351 0.4462 0.3100 0.3132 0.3106 het 1568.54 161 2 69049941 . T C 1568.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.849;DP=161;Dels=0.00;FS=0.589;HRun=0;HaplotypeScore=2.4063;MQ=58.16;MQ0=0;MQRankSum=2.308;QD=9.74;ReadPosRankSum=-1.254;VQSLOD=4.5929;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,68:161:99:1599,0,2491 2 69300191 69300191 T C exonic ANTXR1 synonymous SNV ANTXR1:NM_018153:exon6:c.T450C:p.D150D,ANTXR1:NM_032208:exon6:c.T450C:p.D150D,ANTXR1:NM_053034:exon6:c.T450C:p.D150D 0.005 0.0008 0.0072 . 0.018 0.001 0.0115 0.0024 0.0084 0 0.0064 0.0170 0.0077 0.0058 0.011 0.003 0.016 0.022 0.0082 rs77687153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0111 0.0024 0.0064 0.0147 0 0.0083 0.0169 0.0157 0.0057 0.0087 0.0032 0.0060 0.0232 0 0.0069 0.0133 0.0061 het 1947.07 193 2 69300191 . T C 1947.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.986;DP=193;DS;Dels=0.00;FS=2.935;HRun=0;HaplotypeScore=5.5208;MQ=58.88;MQ0=0;MQRankSum=-0.547;QD=10.09;ReadPosRankSum=0.987;VQSLOD=4.4690;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,80:193:99:1977,0,3082 2 69650730 69650730 G A exonic NFU1 nonsynonymous SNV NFU1:NM_001002755:exon3:c.C286T:p.R96C,NFU1:NM_015700:exon3:c.C214T:p.R72C 0.012 0.0015 0.025 . 0.036 0.0072 0.0199 0.0084 0.0097 0.0003 0.0171 0.0299 0.0199 0.0055 0.028 0.0091 0.037 0.011 0.0082 rs74637005 COSM3758318 1(large_intestine) Benign|Likely benign not_specified|Multiple_mitochondrial_dysfunctions_syndrome RCV000127196.1|RCV000364040.1 MedGen|MedGen CN169374|CN234684 . . . . . . 0.122 0.309 T 0.002 0.151 B 0.002 0.112 B 0.000 0.629 N 0.999 0.810 D -0.36 0.031 N -0.08 0.639 T 5.06 0.000 N 0.049 0.086 -1.109 0.031 T 0.020 0.086 T . . . 3.907 0.526 23.5 0.980 0.371 0.683 0.335 D c -0.371 -0.136 0.002 0.086 0.732 0.924 0 3.6 0.402 4.051 0.569 1.038 0.658 1.000 0.715 0.991 0.552 6.907 0.233 Scaffold protein Nfu/NifU\x2c N-terminal . . 0.0203 0.0073 0.0140 0.0074 0.0002 0.0192 0.0325 0.0202 0.0059 0.0214 0.0062 0.0120 0.0066 0 0.0146 0.0351 0.0184 het 477.87 49 2 69650730 . G A 477.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.614;DP=49;Dels=0.00;FS=4.201;HRun=3;HaplotypeScore=0.0000;MQ=58.46;MQ0=0;MQRankSum=1.739;QD=9.75;ReadPosRankSum=1.088;VQSLOD=4.2625;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,20:49:99:508,0,711 2 69659126 69659126 A T exonic NFU1 startloss NFU1:NM_001002755:exon2:c.T74A:p.M25K,NFU1:NM_015700:exon2:c.T2A:p.L2_M35del 0.32 0.25 0.38 0.21 0.42 0.36 0.3928 0.2832 0.3929 0.2134 0.4119 0.4390 0.3689 0.3632 0.38 0.28 0.43 0.29 0.38 rs4453725 COSM1130747 1(pancreas);1(prostate);3(large_intestine) Benign|Benign not_specified|Multiple_mitochondrial_dysfunctions_syndrome RCV000127198.1|RCV000294034.1 MedGen|MedGen CN169374|CN234684 . . . . . . 0.525 0.614 T 0.039 0.197 B 0.019 0.176 B 0.865 0.071 N 0.000 0.524 P 0.55 0.145 N -0.02 0.629 T -0.55 0.168 N 0.275 0.333 -0.987 0.333 T 0.000 0.000 T . . . -0.293 0.069 0.690 0.845 0.148 0.119 0.168 N c -0.930 -0.888 0.002 0.091 0.732 0.924 0 3.94 0.446 0.886 0.277 -0.122 0.113 0.001 0.137 0.015 0.124 6.884 0.232 . ENSG00000198380.8|ENSG00000169599.8|ENSG00000198380.8|ENSG00000198380.8|ENSG00000198380.8|ENSG00000115977.14|ENSG00000198380.8|ENSG00000115977.14|ENSG00000198380.8|ENSG00000198380.8|ENSG00000198380.8 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.3932 0.2792 0.3943 0.5521 0.2148 0.4090 0.4276 0.4142 0.3581 0.3694 0.2797 0.4125 0.5596 0.2108 0.4100 0.4201 0.4121 het 575.13 45 2 69659126 . A T 575.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.900;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=1.263;QD=12.78;ReadPosRankSum=0.808;VQSLOD=6.0521;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,24:45:99:605,0,513 2 69709919 69709919 A G exonic AAK1 synonymous SNV AAK1:NM_014911:exon18:c.T2391C:p.S797S 0.14 0.21 0.1 0.041 0.19 0.13 0.1430 0.1974 0.0688 0.0340 0.1531 0.1596 0.1636 0.1468 0.17 0.18 0.17 0.16 . rs6721259 COSM3758319;COSM3758320 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1396 0.1962 0.0756 0.0998 0.0333 0.1561 0.1667 0.1377 0.1435 0.1632 0.1936 0.0789 0.0795 0.0470 0.1512 0.1678 0.1548 het 588.13 61 2 69709919 . A G 588.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.319;DP=61;Dels=0.00;FS=1.061;HRun=2;HaplotypeScore=1.6483;MQ=59.62;MQ0=0;MQRankSum=-0.540;QD=9.64;ReadPosRankSum=0.225;VQSLOD=6.2160;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,25:61:99:618,0,1007 2 69736561 69736561 A G exonic AAK1 nonsynonymous SNV AAK1:NM_014911:exon14:c.T1808C:p.V603A 0.014 0.0015 0.026 . 0.042 0.0092 0.0245 0.0095 0.0133 0.0002 0.0173 0.0361 0.0252 0.0093 0.033 0.011 0.043 0.011 . rs56038532 . . . . . . . . . . . . . 0.088 0.323 T 0.001 0.067 B 0.001 0.040 B 0.120 0.190 N 0.750 0.296 N 0.665 0.163 N 1.86 0.243 T -0.6 0.178 N 0.019 0.036 -1.033 0.196 T 0.006 0.020 T . . . 1.882 0.287 15.48 0.949 0.251 0.504 0.284 D c -0.332 -0.079 1.000 0.423 0.732 0.924 0 4.6 0.564 2.224 0.423 1.184 0.906 1.000 0.715 1.000 0.888 3.879 0.085 . . . 0.0237 0.0081 0.0165 0.0126 0.0001 0.0187 0.0377 0.0243 0.0094 0.0228 0.0077 0.0155 0.0099 0 0.0155 0.0364 0.0234 het 394.66 38 2 69736561 . A G 394.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.947;DP=38;Dels=0.00;FS=1.672;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-1.286;QD=10.39;ReadPosRankSum=1.197;VQSLOD=5.5370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,16:38:99:425,0,562 2 69741801 69741801 C T exonic AAK1 synonymous SNV AAK1:NM_014911:exon13:c.G1578A:p.Q526Q 0.14 0.15 0.099 0.074 0.19 0.17 0.1422 0.1540 0.0659 0.0686 0.1559 0.1529 0.1793 0.1777 0.15 0.13 0.16 0.15 . rs6757825 COSM3758323;COSM3758324 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1355 0.1399 0.0709 0.1014 0.0658 0.1520 0.1568 0.1310 0.1673 0.1415 0.1349 0.0764 0.0762 0.0814 0.1466 0.1552 0.1480 het 432.66 31 2 69741801 . C T 432.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.656;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7356;MQ=60.00;MQ0=0;MQRankSum=0.588;QD=13.96;ReadPosRankSum=0.223;VQSLOD=5.6568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,19:31:99:463,0,348 2 69741854 69741854 T G exonic AAK1 nonsynonymous SNV AAK1:NM_014911:exon13:c.A1525C:p.K509Q 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1 1 0.9999 . . . 1. . rs6715776 COSM4590133 10(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.507 0.119 N 1 0.090 P -0.895 0.014 N 1.82 0.250 T 0.73 0.021 N 0.045 0.034 -0.962 0.388 T 0.000 0.000 T . . . 0.913 0.181 10.15 0.758 0.109 0.064 0.122 N c -0.750 -0.492 1.000 0.747 0.722 0.854 0 4.52 0.546 2.745 0.469 0.136 0.221 1.000 0.715 0.854 0.356 9.935 0.405 . . . 1.0000 1 1 1 1 1 1 1 0.9999 1 1 1 1 1 1 1 1 hom 1026.67 36 2 69741854 . T G 1026.67 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=28.52;VQSLOD=7.6868;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:78.25:1060,78,0 2 70162534 70162534 T G exonic MXD1 synonymous SNV MXD1:NM_001202514:exon3:c.T225G:p.L75L,MXD1:NM_001202513:exon4:c.T255G:p.L85L,MXD1:NM_002357:exon4:c.T255G:p.L85L 0.58 0.85 0.4 0.54 0.44 0.54 0.4799 0.7963 0.4018 0.5702 0.4988 0.4314 0.4471 0.4784 0.55 0.78 0.43 0.65 0.4 rs2228183 COSM3758325 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4681 0.8010 0.3977 0.3880 0.5664 0.4873 0.4303 0.4455 0.4772 0.5529 0.8034 0.4200 0.3907 0.5620 0.4854 0.4373 0.4806 het 1188.23 109 2 70162534 . T G 1188.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.432;DP=109;Dels=0.00;FS=3.570;HRun=2;HaplotypeScore=2.8376;MQ=58.54;MQ0=0;MQRankSum=1.163;QD=10.90;ReadPosRankSum=-0.418;VQSLOD=5.7586;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,48:109:99:1218,0,1542 2 70188676 70188676 T C exonic ASPRV1 nonsynonymous SNV ASPRV1:NM_152792:exon1:c.A145G:p.T49A 0.7 0.91 0.74 0.68 0.5 0.59 0.5972 0.8586 0.7967 0.6955 0.6125 0.5227 0.5463 0.5382 0.63 0.85 0.52 0.77 0.53 rs3796097 . . . . . . . . . . . . . 0.523 0.072 T 0.002 0.090 B 0.001 0.040 B 0.977 0.078 N 1 0.090 P 0.115 0.086 N 0.95 0.433 T -1.02 0.268 N 0.01 0.001 -1.018 0.245 T 0.000 0.000 T . . . -1.429 0.019 0.003 0.291 0.015 0.006 0.027 N c -1.686 -1.742 0.992 0.325 0.516 0.203 0 -4.7 0.030 -0.862 0.043 -1.457 0.011 0.000 0.063 0.000 0.016 11.871 0.516 . ENSG00000035141.3|ENSG00000115998.3 Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts 0.5985 0.8651 0.7791 0.4734 0.6968 0.5960 0.5229 0.5723 0.5328 0.6456 0.8514 0.7542 0.4536 0.6886 0.5889 0.5350 0.5980 het 998.55 76 2 70188676 . T C 998.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.734;DP=76;Dels=0.00;FS=0.968;HRun=0;HaplotypeScore=3.2261;MQ=59.20;MQ0=0;MQRankSum=-0.058;QD=13.14;ReadPosRankSum=-0.504;VQSLOD=6.5280;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,36:76:99:1029,0,988 2 70677994 70677994 G A exonic TGFA synonymous SNV TGFA:NM_001099691:exon6:c.C477T:p.V159V,TGFA:NM_001308158:exon6:c.C498T:p.V166V,TGFA:NM_001308159:exon6:c.C495T:p.V165V,TGFA:NM_003236:exon6:c.C480T:p.V160V 0.21 0.13 0.13 0.29 0.26 0.23 0.2615 0.1790 0.1034 0.3107 0.3407 0.2931 0.2848 0.2329 0.24 0.17 0.27 0.18 0.31 rs2166975 COSM330436 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2399 0.1624 0.1089 0.2123 0.2974 0.3098 0.2746 0.2371 0.2233 0.2515 0.1630 0.1280 0.1689 0.3109 0.3168 0.2892 0.2638 hom 846.03 28 2 70677994 . G A 846.03 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=30.22;VQSLOD=8.6060;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:69.20:879,69,0 2 71043461 71043461 C T exonic CLEC4F nonsynonymous SNV CLEC4F:NM_001258027:exon4:c.G1052A:p.R351H,CLEC4F:NM_001321308:exon4:c.G1052A:p.R351H,CLEC4F:NM_173535:exon4:c.G1052A:p.R351H 0.34 0.12 0.4 0.52 0.31 0.43 0.3313 0.1555 0.4282 0.5345 0.3568 0.3015 0.3227 0.3786 0.26 0.17 0.3 0.34 0.29 rs722896 COSM4001732 3(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.002 0.126 B 0.001 0.040 B 0.298 0.039 N 1 0.090 P -0.66 0.021 N -1.66 0.827 D 0.38 0.036 N 0.015 0.002 -1.040 0.174 T 0.000 0.000 T . . . 0.715 0.162 8.923 0.878 0.170 0.007 0.030 N c -1.371 -1.396 0.024 0.135 0.497 0.185 0 -5.05 0.027 -0.682 0.052 -0.295 0.082 0.000 0.063 0.224 0.222 11.540 0.497 . ENSG00000152672.3 Whole_Blood 0.3351 0.1518 0.4149 0.2341 0.5300 0.3500 0.3018 0.3253 0.3746 0.2713 0.1473 0.3837 0.2318 0.4969 0.3426 0.2949 0.3047 het 1528.34 115 2 71043461 . C T 1528.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.783;DP=115;Dels=0.00;FS=4.834;HRun=0;HaplotypeScore=4.8438;MQ=59.24;MQ0=0;MQRankSum=-0.279;QD=13.29;ReadPosRankSum=1.089;VQSLOD=4.9893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,55:115:99:1558,0,1473 2 71044211 71044211 C T exonic CLEC4F nonsynonymous SNV CLEC4F:NM_001258027:exon4:c.G302A:p.R101Q,CLEC4F:NM_001321308:exon4:c.G302A:p.R101Q,CLEC4F:NM_173535:exon4:c.G302A:p.R101Q 0.33 0.028 0.4 0.52 0.38 0.44 0.3759 0.0795 0.4329 0.5349 0.5020 0.3728 0.3678 0.4014 0.28 0.096 0.37 0.3 0.33 rs2075221 COSM5425495 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.100 0.199 N 1 0.090 P -2.045 0.002 N 5.0 0.014 T 1.3 0.010 N 0.019 0.004 -1.032 0.198 T 0.000 0.000 T . . . -0.017 0.092 2.424 0.182 0.006 0.001 0.004 N c -1.326 -1.140 0.009 0.118 0.447 0.083 0 3.88 0.438 0.276 0.183 -0.022 0.129 0.095 0.225 0.192 0.215 7.714 0.277 . ENSG00000152672.3|ENSG00000152672.3 Spleen|Whole_Blood 0.3805 0.0731 0.4221 0.2568 0.5306 0.4978 0.3727 0.3702 0.3939 0.3147 0.0823 0.3981 0.2483 0.4981 0.4960 0.3798 0.3929 het 1004.26 67 2 71044211 . C T 1004.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.540;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8100;MQ=59.66;MQ0=0;MQRankSum=-0.220;QD=14.99;ReadPosRankSum=0.824;VQSLOD=6.4305;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,36:67:99:1034,0,763 2 71058226 71058226 C T exonic CD207 synonymous SNV CD207:NM_015717:exon6:c.G942A:p.T314T 0.14 0.039 0.24 0.079 0.22 0.17 0.2174 0.0668 0.2814 0.0826 0.2092 0.2547 0.2283 0.1837 0.19 0.064 0.25 0.11 . rs2080390 COSM3721180 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2217 0.0687 0.2741 0.2529 0.0815 0.2180 0.2562 0.2272 0.1860 0.1952 0.0740 0.2554 0.2517 0.0813 0.2201 0.2649 0.2378 het 1098.70 86 2 71058226 . C T 1098.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.575;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.03;MQ0=0;MQRankSum=0.436;QD=12.78;ReadPosRankSum=0.540;VQSLOD=6.6972;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,44:86:99:1129,0,1196 2 71058835 71058835 A G exonic CD207 nonsynonymous SNV CD207:NM_015717:exon5:c.T833C:p.V278A 0.55 0.52 0.48 0.65 0.47 0.58 0.4755 0.4838 0.4706 0.6423 0.5414 0.4278 0.4532 0.5548 0.44 0.47 0.42 0.48 . rs741326 . . . . . . . . . . . . . 0.8 0.031 T 0.0 0.026 B 0.0 0.013 B 0.152 0.030 N 1 0.090 P -0.565 0.023 N 2.33 0.165 T 0.74 0.020 N 0.024 0.075 -0.960 0.392 T 0.000 0.000 T . . . -3.136 0.001 0.001 0.254 0.012 0.002 0.011 N c -2.352 -2.379 1.000 0.747 0.497 0.185 0 -9.57 0.005 -1.825 0.018 -3.038 0.001 0.000 0.063 0.000 0.016 1.358 0.020 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.4735 0.4795 0.4681 0.3430 0.6357 0.5335 0.4276 0.4556 0.5530 0.4627 0.4791 0.4678 0.3146 0.6388 0.5381 0.4196 0.4582 het 1717.88 127 2 71058835 . A G 1717.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.052;DP=127;Dels=0.00;FS=5.169;HRun=0;HaplotypeScore=1.6644;MQ=58.90;MQ0=0;MQRankSum=0.066;QD=13.53;ReadPosRankSum=0.888;VQSLOD=5.7274;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,68:127:99:1748,0,1615 2 71060111 71060111 G A exonic CD207 nonsynonymous SNV CD207:NM_015717:exon4:c.C637T:p.P213S 0.019 0.0008 0.039 . 0.063 0.0051 0.0362 0.0114 0.0297 0.0001 0.0209 0.0536 0.0268 0.0110 0.044 0.013 0.059 0.033 . rs17006436 . . . . . . . . . . . . . 0.594 0.057 T 0.0 0.026 B 0.001 0.040 B 0.065 0.022 N 1 0.090 N 0.235 0.097 N 2.23 0.181 T 0.25 0.045 N 0.027 0.009 -0.999 0.302 T 0.002 0.006 T . . . -3.501 0.000 0.001 0.227 0.009 0.003 0.016 N c -2.858 -2.931 1.000 0.747 0.497 0.185 0 -10.7 0.002 -7.163 0.001 -2.895 0.002 0.000 0.063 0.001 0.043 0.188 0.001 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.0348 0.0108 0.0298 0.0159 5.798e-05 0.0197 0.0560 0.0420 0.0108 0.0286 0.0099 0.0334 0.0232 0 0.0175 0.0450 0.0295 het 1331.05 78 2 71060111 . G A 1331.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.411;DP=78;Dels=0.00;FS=3.263;HRun=2;HaplotypeScore=1.9930;MQ=60.00;MQ0=0;MQRankSum=-0.401;QD=17.06;ReadPosRankSum=-0.578;VQSLOD=5.9922;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,50:78:99:1361,0,748 2 71061108 71061108 G A exonic CD207 synonymous SNV CD207:NM_015717:exon3:c.C234T:p.V78V 0.14 0.11 0.22 0.097 0.18 0.14 0.2088 0.1361 0.2875 0.1003 0.1837 0.2276 0.2154 0.1702 0.18 0.12 0.22 0.11 . rs17662453 COSM3758336 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1976 0.1262 0.2628 0.2019 0.0913 0.1857 0.2211 0.1983 0.1514 0.1903 0.1351 0.2375 0.2119 0.0915 0.1852 0.2298 0.2128 het 227.85 26 2 71061108 . G A 227.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.495;DP=26;Dels=0.00;FS=4.060;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.026;QD=8.76;ReadPosRankSum=-0.026;VQSLOD=5.9184;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,12:26:99:258,0,455 2 71163173 71163173 C T exonic ATP6V1B1 nonsynonymous SNV ATP6V1B1:NM_001692:exon1:c.C89T:p.T30I 0.16 0.12 0.21 0.19 0.15 0.15 0.1802 0.1349 0.2702 0.2222 0.1557 0.1750 0.1967 0.1535 0.16 0.14 0.17 0.14 0.11 rs17720303 COSM4001733 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Renal_tubular_acidosis_with_progressive_nerve_deafness RCV000037210.4|RCV000365413.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0403554:267300:236532003 . . . . . . 0.141 0.263 T 0.0 0.026 B 0.001 0.040 B 0.000 0.513 D 0.000 0.506 P 0.99 0.251 L -1.64 0.826 D -1.51 0.381 N 0.275 0.396 -1.098 0.043 T 0.000 0.001 T . . . 3.174 0.441 22.7 0.996 0.730 0.808 0.400 D c -0.174 0.009 1.000 0.747 0.616 0.391 0 4.89 0.632 1.754 0.378 0.721 0.304 0.986 0.359 0.990 0.544 15.559 0.759 . . . 0.1850 0.1340 0.2695 0.2233 0.2169 0.1605 0.1722 0.1899 0.1511 0.1665 0.1290 0.2656 0.2285 0.2438 0.1479 0.1777 0.1636 het 1858.30 132 2 71163173 . C T 1858.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.274;DP=132;Dels=0.00;FS=3.306;HRun=0;HaplotypeScore=2.6432;MQ=58.36;MQ0=0;MQRankSum=1.207;QD=14.08;ReadPosRankSum=-0.835;VQSLOD=4.7048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,75:132:99:1888,0,1320 2 71190384 71190384 C T exonic ATP6V1B1 synonymous SNV ATP6V1B1:NM_001692:exon10:c.C1002T:p.R334R 0.44 0.15 0.49 0.65 0.46 0.54 0.4690 0.1753 0.5725 0.6537 0.4043 0.4502 0.4570 0.5870 0.36 0.18 0.45 0.39 0.34 rs2072462 COSM4133908 2(thyroid) Benign|Benign not_specified|Renal_tubular_acidosis_with_progressive_nerve_deafness RCV000037201.3|RCV000324556.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0403554:267300:236532003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4770 0.1651 0.5633 0.5116 0.6535 0.3944 0.4492 0.4808 0.5871 0.3818 0.1821 0.5168 0.4667 0.6538 0.4190 0.4471 0.4418 het 1126 107 2 71190384 . C T 1126 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.037;DP=107;Dels=0.00;FS=0.765;HRun=0;HaplotypeScore=6.8552;MQ=59.38;MQ0=0;MQRankSum=1.377;QD=10.52;ReadPosRankSum=1.237;VQSLOD=4.4703;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,46:107:99:1156,0,1576 2 71221822 71221822 A G exonic TEX261 synonymous SNV TEX261:NM_144582:exon1:c.T66C:p.A22A 0.36 0.59 0.45 0.19 0.32 0.22 0.3625 0.5716 0.5144 0.2790 0.3180 0.3441 0.3302 0.2719 0.38 0.55 0.29 0.36 0.17 rs2302561 COSM1752638 2(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3112 0.5464 0.4621 0.2736 0.2410 0.2422 0.2835 0.3105 0.2378 0.3584 0.5630 0.4215 0.2815 0.2413 0.2553 0.2780 0.3002 het 121.91 21 2 71221822 . A G 121.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.295;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=1.050;QD=5.81;ReadPosRankSum=-1.485;VQSLOD=5.0354;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,8:21:99:152,0,358 2 71305456 71305456 C T exonic NAGK synonymous SNV NAGK:NM_001330425:exon9:c.C700T:p.L234L,NAGK:NM_001330426:exon10:c.C700T:p.L234L,NAGK:NM_017567:exon10:c.C991T:p.L331L 0.83 0.87 0.68 1. 0.7 0.84 0.7424 0.8279 0.6289 0.9985 0.7318 0.7002 0.7302 0.8092 0.74 0.82 0.7 0.83 0.61 rs6713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7373 0.8348 0.6288 0.7840 0.9979 0.7256 0.6954 0.7307 0.8066 0.7504 0.8381 0.6527 0.7633 0.9981 0.7214 0.6867 0.7193 het 1698.83 119 2 71305456 . C T 1698.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.168;DP=119;Dels=0.00;FS=5.719;HRun=2;HaplotypeScore=0.0000;MQ=55.86;MQ0=0;MQRankSum=1.444;QD=14.28;ReadPosRankSum=0.582;VQSLOD=2.7805;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,62:119:99:1729,0,1458 2 71351487 71351487 G A exonic MCEE nonsynonymous SNV MCEE:NM_032601:exon2:c.C227T:p.A76V 0.18 0.032 0.27 0.045 0.4 0.25 0.3056 0.0737 0.2665 0.0540 0.4093 0.3727 0.3554 0.2953 0.27 0.081 0.37 0.15 0.34 rs11541017 COSM1409252 1(prostate) Benign|Benign not_specified|Methylmalonic_acidemia RCV000126701.2|RCV000279982.1 MedGen|MedGen:SNOMED_CT CN169374|C0268583:42393006 . . . . . . 0.248 0.172 T 0.015 0.158 B 0.003 0.080 B 0.690 0.102 N 1 0.090 P -0.395 0.030 N 0.01 0.625 T -0.45 0.148 N 0.027 0.009 -0.972 0.368 T 0.000 0.000 T . . . 0.817 0.172 9.567 0.874 0.166 0.073 0.132 N c -1.322 -1.331 0.959 0.284 0.707 0.730 0 -4.05 0.037 -0.130 0.104 -2.022 0.005 0.000 0.063 0.818 0.342 7.096 0.243 Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase ENSG00000124370.6|ENSG00000124370.6|ENSG00000124370.6 Artery_Aorta|Muscle_Skeletal|Nerve_Tibial 0.3094 0.0681 0.2631 0.4267 0.0530 0.4141 0.3664 0.3357 0.2988 0.2724 0.0811 0.2739 0.3675 0.0512 0.4065 0.3690 0.3541 het 1507.41 116 2 71351487 . G A 1507.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.505;DP=116;Dels=0.00;FS=7.298;HRun=0;HaplotypeScore=1.6671;MQ=59.08;MQ0=0;MQRankSum=0.196;QD=12.99;ReadPosRankSum=0.190;VQSLOD=5.2674;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,58:116:99:1537,0,1508 2 71417065 71417065 G T exonic PAIP2B synonymous SNV PAIP2B:NM_020459:exon3:c.C225A:p.P75P 0.96 0.96 0.94 1. 0.91 0.97 0.9346 0.9523 0.9688 0.9974 0.9084 0.9114 0.9314 0.9734 0.92 0.95 0.91 0.97 . rs357777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9350 0.9522 0.9629 0.9543 0.9978 0.9100 0.9076 0.9327 0.9726 0.9236 0.9508 0.9653 0.9404 0.9994 0.9156 0.8994 0.9122 hom 1495.92 49 2 71417065 . G T 1495.92 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9237;MQ=59.53;MQ0=0;QD=30.53;VQSLOD=8.4026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1529,126,0 2 71633275 71633275 T C exonic ZNF638 synonymous SNV ZNF638:NM_001014972:exon19:c.T3018C:p.I1006I,ZNF638:NM_001252612:exon19:c.T3018C:p.I1006I,ZNF638:NM_001252613:exon19:c.T3018C:p.I1006I,ZNF638:NM_014497:exon19:c.T3018C:p.I1006I 0.41 0.16 0.64 0.29 0.55 0.57 0.5246 0.2170 0.6619 0.3101 0.5086 0.5720 0.5298 0.5496 0.46 0.23 0.58 0.33 0.49 rs3732233 COSM4418629 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5345 0.2130 0.6610 0.5838 0.3074 0.5083 0.5726 0.5504 0.5464 0.4469 0.2248 0.6360 0.5695 0.3123 0.5235 0.5548 0.5215 het 2280.73 177 2 71633275 . T C 2280.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.525;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7972;MQ=59.27;MQ0=0;MQRankSum=0.982;QD=12.89;ReadPosRankSum=-0.827;VQSLOD=6.5071;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,92:177:99:2311,0,2196 2 71633389 71633389 C T exonic ZNF638 synonymous SNV ZNF638:NM_001014972:exon19:c.C3132T:p.N1044N,ZNF638:NM_001252612:exon19:c.C3132T:p.N1044N,ZNF638:NM_001252613:exon19:c.C3132T:p.N1044N,ZNF638:NM_014497:exon19:c.C3132T:p.N1044N 0.42 0.22 0.62 0.29 0.55 0.57 0.5269 0.2579 0.6460 0.3091 0.5083 0.5727 0.5265 0.5500 0.47 0.27 0.58 0.34 0.47 rs6714975 COSM4133909 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5352 0.2550 0.6432 0.6040 0.3067 0.5081 0.5721 0.5486 0.5464 0.4579 0.2643 0.6208 0.5728 0.3152 0.5238 0.5548 0.5235 het 695.61 66 2 71633389 . C T 695.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.131;DP=66;Dels=0.00;FS=4.145;HRun=0;HaplotypeScore=0.6651;MQ=59.43;MQ0=0;MQRankSum=-0.058;QD=10.54;ReadPosRankSum=2.030;VQSLOD=5.7643;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,28:66:99:726,0,1059 2 71795152 71795152 A T exonic DYSF synonymous SNV DYSF:NM_001130976:exon24:c.A2541T:p.S847S,DYSF:NM_001130977:exon24:c.A2541T:p.S847S,DYSF:NM_001130984:exon24:c.A2544T:p.S848S,DYSF:NM_001130986:exon24:c.A2544T:p.S848S,DYSF:NM_001130455:exon25:c.A2586T:p.S862S,DYSF:NM_001130978:exon25:c.A2583T:p.S861S,DYSF:NM_001130980:exon25:c.A2634T:p.S878S,DYSF:NM_001130981:exon25:c.A2634T:p.S878S,DYSF:NM_001130983:exon25:c.A2586T:p.S862S,DYSF:NM_001130985:exon25:c.A2637T:p.S879S,DYSF:NM_001130987:exon25:c.A2637T:p.S879S,DYSF:NM_003494:exon25:c.A2583T:p.S861S,DYSF:NM_001130979:exon26:c.A2676T:p.S892S,DYSF:NM_001130982:exon26:c.A2679T:p.S893S 0.55 0.81 0.56 0.19 0.66 0.44 0.6042 0.8104 0.5041 0.1531 0.6539 0.6741 0.5804 0.4792 0.72 0.81 0.67 0.66 0.7 rs2288355 COSM3766590;COSM3766591 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) other|Benign|Benign not_specified|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Miyoshi_myopathy RCV000080254.10|RCV000283608.1|RCV000378035.1 MedGen|MedGen|MedGen CN169374|CN239352|CN230453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5973 0.8099 0.5244 0.6267 0.1540 0.6429 0.6773 0.6220 0.4821 0.6825 0.8158 0.5659 0.6391 0.1452 0.6381 0.6830 0.6471 het 2315.54 180 2 71795152 . A T 2315.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.496;DP=180;Dels=0.00;FS=5.493;HRun=0;HaplotypeScore=2.9874;MQ=59.50;MQ0=0;MQRankSum=-0.641;QD=12.86;ReadPosRankSum=-0.391;VQSLOD=5.3664;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:96,84:180:99:2346,0,2668 2 71838597 71838597 C A exonic DYSF synonymous SNV DYSF:NM_001130976:exon37:c.C3966A:p.I1322I,DYSF:NM_001130977:exon37:c.C3966A:p.I1322I,DYSF:NM_001130984:exon37:c.C3969A:p.I1323I,DYSF:NM_001130986:exon37:c.C3969A:p.I1323I,DYSF:NM_001130455:exon38:c.C4011A:p.I1337I,DYSF:NM_001130978:exon38:c.C4008A:p.I1336I,DYSF:NM_001130980:exon38:c.C4059A:p.I1353I,DYSF:NM_001130981:exon38:c.C4059A:p.I1353I,DYSF:NM_001130983:exon38:c.C4011A:p.I1337I,DYSF:NM_001130985:exon38:c.C4062A:p.I1354I,DYSF:NM_001130987:exon38:c.C4062A:p.I1354I,DYSF:NM_003494:exon38:c.C4008A:p.I1336I,DYSF:NM_001130979:exon39:c.C4101A:p.I1367I,DYSF:NM_001130982:exon39:c.C4104A:p.I1368I 0.45 0.36 0.53 0.48 0.54 0.39 0.5015 0.3984 0.5378 0.4644 0.5433 0.5307 0.4768 0.4265 0.47 0.4 0.51 0.49 0.51 rs2303606 COSM5618884;COSM5618883 2(breast) other|Benign|Benign not_specified|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Miyoshi_myopathy RCV000080282.10|RCV000288114.1|RCV000382443.1 MedGen|MedGen|MedGen CN169374|CN239352|CN230453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5044 0.3936 0.5380 0.5931 0.4676 0.5369 0.5209 0.5283 0.4277 0.4732 0.3967 0.5680 0.6060 0.4586 0.5330 0.4952 0.5072 het 1251.27 132 2 71838597 . C A 1251.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.982;DP=132;Dels=0.00;FS=5.448;HRun=0;HaplotypeScore=2.3070;MQ=59.08;MQ0=0;MQRankSum=0.352;QD=9.48;ReadPosRankSum=0.016;VQSLOD=5.5126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,52:132:99:1281,0,2075 2 72707874 72707874 A G exonic EXOC6B synonymous SNV EXOC6B:NM_001321734:exon16:c.T1332C:p.V444V,EXOC6B:NM_001321729:exon17:c.T1671C:p.V557V,EXOC6B:NM_001321731:exon17:c.T1671C:p.V557V,EXOC6B:NM_015189:exon17:c.T1671C:p.V557V 0.35 0.95 0.21 0.0069 0.23 0.091 0.3220 0.8457 0.25 0.0122 0.2480 0.3143 0.2574 0.1328 0.41 0.8 0.23 0.53 . rs653220 COSM3758354;COSM3758353 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2232 0.8511 0.1544 0.2143 0.0067 0.1900 0.2351 0.2329 0.1019 0.3816 0.8282 0.1962 0.2450 0.0093 0.1946 0.2285 0.2378 het 418.56 25 2 72707874 . A G 418.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.413;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8446;MQ=58.49;MQ0=0;MQRankSum=1.359;QD=16.74;ReadPosRankSum=0.194;VQSLOD=5.2925;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,15:25:99:449,0,243 2 72958333 72958333 T C exonic EXOC6B synonymous SNV EXOC6B:NM_001321734:exon3:c.A30G:p.Q10Q,EXOC6B:NM_001321729:exon4:c.A369G:p.Q123Q,EXOC6B:NM_001321730:exon4:c.A369G:p.Q123Q,EXOC6B:NM_001321731:exon4:c.A369G:p.Q123Q,EXOC6B:NM_001321733:exon4:c.A369G:p.Q123Q,EXOC6B:NM_015189:exon4:c.A369G:p.Q123Q 0.2 0.6 0.099 0.001 0.12 0.021 0.1307 0.5065 0.0776 0.0023 0.1034 0.1263 0.1161 0.0311 0.22 0.47 0.11 0.25 . rs61736520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1168 0.5013 0.0822 0.0987 0.0019 0.1018 0.1208 0.1232 0.0302 0.2114 0.4786 0.1169 0.1060 0.0056 0.1013 0.1174 0.1204 het 728.24 47 2 72958333 . T C 728.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.277;DP=47;Dels=0.00;FS=2.671;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.101;QD=15.49;ReadPosRankSum=1.044;VQSLOD=5.6170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,31:47:99:758,0,382 2 73226090 73226090 G A exonic SFXN5 nonsynonymous SNV SFXN5:NM_001330412:exon9:c.C92T:p.P31L,SFXN5:NM_001330411:exon10:c.C92T:p.P31L 0.34 0.43 0.28 0.49 0.22 0.22 0.2649 0.4264 0.2251 0.4873 0.2733 0.2263 0.2489 0.2277 0.29 0.42 0.22 0.3 0.18 rs12233055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2571 0.4257 0.2271 0.2460 0.4807 0.2565 0.2185 0.2477 0.2273 0.2976 0.4295 0.2273 0.2781 0.4913 0.2541 0.2165 0.2669 het 816.64 53 2 73226090 . G A 816.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.402;DP=53;Dels=0.00;FS=1.108;HRun=0;HaplotypeScore=0.8667;MQ=59.56;MQ0=0;MQRankSum=-1.066;QD=15.41;ReadPosRankSum=-0.399;VQSLOD=6.3048;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,34:53:99:847,0,475 2 73339708 73339708 G A exonic RAB11FIP5 synonymous SNV RAB11FIP5:NM_015470:exon1:c.C198T:p.C66C 0.52 0.24 0.67 0.43 0.71 0.69 0.6750 0.3714 0.7477 0.5039 0.6571 0.7137 0.6870 0.6986 0.57 0.33 0.69 0.022 0.57 rs1864488 COSM4133915 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6525 0.2895 0.7283 0.7254 0.4566 0.6130 0.6939 0.6726 0.6750 0.5556 0.2942 0.7322 0.7053 0.4295 0.6121 0.6905 0.6291 het 390.54 32 2 73339708 . G A 390.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.568;DP=32;Dels=0.00;FS=5.979;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;MQRankSum=1.964;QD=12.20;ReadPosRankSum=-1.020;VQSLOD=5.0564;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,17:32:99:421,0,368 2 73478461 73478461 A T exonic CCT7 synonymous SNV CCT7:NM_001009570:exon6:c.A699T:p.A233A,CCT7:NM_001166284:exon9:c.A1050T:p.A350A,CCT7:NM_006429:exon11:c.A1311T:p.A437A,CCT7:NM_001166285:exon12:c.A1179T:p.A393A 0.25 0.12 0.3 0.36 0.31 0.24 0.2789 0.1487 0.2497 0.3227 0.2850 0.3034 0.3089 0.2508 0.26 0.15 0.31 0.25 0.25 rs7851 COSM148877;COSM3758355 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2826 0.1465 0.2637 0.2701 0.3256 0.2857 0.3086 0.2881 0.2529 0.2553 0.1566 0.2746 0.2833 0.3441 0.2789 0.2957 0.2612 hom 7405.40 234 2 73478461 . A T 7405.40 Mask AC=2;AF=1.00;AN=2;DP=234;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=59.54;MQ0=0;QD=31.65;VQSLOD=8.6029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7405,569,0 2 73493651 73493651 G A exonic FBXO41 synonymous SNV FBXO41:NM_001080410:exon2:c.C1065T:p.S355S 0.0062 . 0.0058 . 0.017 0.01 0.0228 0.0073 0.0113 0 0.0133 0.0344 0.0160 0.0065 0.015 0.0046 0.02 0.011 . rs372629043 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0127 0.0034 0.0082 0.0163 0 0.0058 0.0210 0.0145 0.0047 0.0109 0.0040 0.0084 0.0199 0.0006 0.0054 0.0172 0.0102 het 179.06 16 2 73493651 . G A 179.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.646;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.423;QD=11.19;ReadPosRankSum=-0.212;VQSLOD=10.4778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,7:16:99:209,0,217 2 73651967 73651967 C T exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon5:c.C1174T:p.R392C 0.36 0.88 0.39 0.0089 0.23 0.15 0.2712 0.7789 0.4192 0.0079 0.2280 0.2329 0.2324 0.1680 0.39 0.74 0.24 0.48 0.3 rs3813227 . . Benign not_specified RCV000437899.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.266 0.152 N 1 0.090 P -0.55 0.024 N . . . . . . 0.078 0.219 -1.005 0.284 T 0.000 0.000 T . . . -0.654 0.047 0.092 0.364 0.023 0.002 0.011 N c -1.516 -1.436 0.002 0.087 0.707 0.730 0 0.185 0.143 0.089 0.147 0.154 0.240 0.248 0.246 0.804 0.337 1.773 0.028 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2660 0.7838 0.4080 0.1728 0.0061 0.2317 0.2364 0.2511 0.1607 0.3806 0.7737 0.3804 0.1854 0.0043 0.2388 0.2371 0.2597 het 1152.15 87 2 73651967 . C T 1152.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.689;DP=87;Dels=0.00;FS=3.039;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-0.753;QD=13.24;ReadPosRankSum=-0.123;VQSLOD=6.4585;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,46:87:99:1182,0,986 2 73675227 73675227 - CTC exonic ALMS1 nonframeshift insertion ALMS1:NM_015120:exon8:c.1570_1571insCTC:p.S524_L525insP 0.6 0.29 0.7 0.78 0.66 0.7 0.6384 0.3574 0.7358 0.7761 0.6299 0.6375 0.6656 0.6714 0.55 0.37 0.64 . . rs587621330 COSM4603453 17(upper_aerodigestive_tract);3(central_nervous_system) Benign Alstrom_syndrome RCV000205185.1 MedGen:OMIM:Orphanet:SNOMED_CT C0268425:203800:ORPHA64:63702009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6450 0.3503 0.7306 0.6308 0.7791 0.6280 0.6356 0.6521 0.6725 0.5638 0.3569 0.7145 0.6141 0.7563 0.6319 0.6340 0.6309 het 3759.32 115 2 73675227 . T TCTC 3759.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.072;DP=115;FS=0.000;HRun=0;HaplotypeScore=367.5478;MQ=55.23;MQ0=0;MQRankSum=-0.768;QD=32.69;ReadPosRankSum=-0.074;set=variant2 GT:AD:DP:GQ:PL 0/1:61,54:115:99:3759,0,2119 2 73675669 73675669 T G exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.T2012G:p.V671G 0.87 0.91 0.94 0.79 0.88 0.84 0.8627 0.9006 0.9488 0.7828 0.8395 0.8639 0.8589 0.8266 0.88 0.9 0.87 0.91 0.93 rs2037814 COSM5426232 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.543 0.115 N 1 0.090 P -0.55 0.024 N . . . . . . 0.055 0.239 -1.070 0.094 T 0.000 0.000 T . . . -0.301 0.068 0.662 0.379 0.025 0.000 0.002 N c -1.490 -1.457 0.654 0.222 0.563 0.310 0 0.151 0.141 -0.272 0.085 -0.863 0.028 0.002 0.151 0.001 0.043 1.131 0.016 . ENSG00000144034.10|ENSG00000144035.3|ENSG00000163013.7|ENSG00000144035.3 Esophagus_Mucosa|Lung|Nerve_Tibial|Testis 0.8650 0.9003 0.9501 0.8239 0.7840 0.8425 0.8652 0.8643 0.8292 0.8724 0.9048 0.9308 0.8212 0.7662 0.8500 0.8683 0.8676 hom 3810.70 110 2 73675669 . T G 3810.70 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9251;MQ=59.37;MQ0=0;QD=34.64;VQSLOD=8.0904;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3810,304,0 2 73675844 73675844 C T exonic ALMS1 synonymous SNV ALMS1:NM_015120:exon8:c.C2187T:p.F729F 0.53 0.1 0.56 0.78 0.65 0.69 0.5991 0.1856 0.5333 0.7744 0.6109 0.6301 0.6336 0.6670 0.49 0.21 0.62 0.47 0.61 rs7598901 COSM5426233 3(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000419167.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6026 0.1794 0.5448 0.6276 0.7777 0.6100 0.6284 0.6149 0.6685 0.5097 0.1938 0.5540 0.6192 0.7622 0.6105 0.6315 0.6100 het 2163.74 140 2 73675844 . C T 2163.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.092;DP=140;Dels=0.00;FS=6.409;HRun=2;HaplotypeScore=1.6281;MQ=59.04;MQ0=0;MQRankSum=0.377;QD=15.46;ReadPosRankSum=0.653;VQSLOD=5.2609;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,77:140:99:2194,0,1580 2 73677833 73677833 A G exonic ALMS1 synonymous SNV ALMS1:NM_015120:exon8:c.A4176G:p.Q1392Q 0.34 0.79 0.38 0.0089 0.23 0.16 0.2609 0.7064 0.4140 0.0078 0.2287 0.2307 0.2233 0.1588 0.37 0.67 0.24 0.47 0.29 rs6546836 COSM1409404 1(thyroid) Benign not_specified RCV000417950.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2595 0.7134 0.4040 0.1510 0.0060 0.2326 0.2360 0.2457 0.1600 0.3592 0.7015 0.3798 0.1533 0.0044 0.2395 0.2371 0.2520 het 1762.11 129 2 73677833 . A G 1762.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.057;DP=129;Dels=0.00;FS=3.211;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=1.995;QD=13.66;ReadPosRankSum=0.002;VQSLOD=5.4227;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,63:129:99:1792,0,1690 2 73677898 73677898 G C exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.G4241C:p.G1414A 0.36 0.88 0.39 0.0089 0.23 0.16 0.2681 0.7790 0.42 0.0078 0.2285 0.2320 0.2278 0.1585 0.39 0.74 0.24 0.48 0.29 rs6546837 COSM5001865 1(pancreas) Benign not_specified RCV000424327.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.921 0.075 N 1 0.090 P -1.81 0.003 N . . . . . . 0.022 0.025 -1.004 0.288 T 0.000 0.000 T . . . -1.739 0.012 0.002 0.103 0.001 0.000 0.003 N c -1.617 -1.581 0.982 0.303 0.490 0.173 0 -0.18 0.126 -2.829 0.008 0.038 0.153 0.000 0.063 0.006 0.095 5.890 0.180 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2676 0.7844 0.4133 0.1706 0.0061 0.2326 0.2375 0.2544 0.1625 0.3990 0.7789 0.3926 0.1972 0.0046 0.2580 0.2531 0.2784 het 2515.58 170 2 73677898 . G C 2515.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.400;DP=170;Dels=0.00;FS=6.614;HRun=0;HaplotypeScore=4.2084;MQ=59.04;MQ0=0;MQRankSum=0.197;QD=14.80;ReadPosRankSum=0.551;VQSLOD=4.6796;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,91:170:99:2546,0,2095 2 73679280 73679280 A G exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.A5623G:p.I1875V 0.36 0.86 0.39 0.0089 0.23 0.16 0.2676 0.7648 0.4179 0.0078 0.2287 0.2334 0.2283 0.1591 0.39 0.73 0.24 0.48 0.31 rs6546838 . . Benign not_specified RCV000434913.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.002 0.063 B 0.078 0.023 N 1 0.090 P -1.1 0.010 N . . . . . . 0.052 0.072 -0.988 0.331 T 0.000 0.000 T . . . -2.737 0.002 0.001 0.672 0.080 0.005 0.023 N c -1.893 -1.858 0.999 0.391 0.707 0.730 0 -3.33 0.046 -0.208 0.093 -2.025 0.005 0.000 0.063 0.000 0.016 5.239 0.147 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2654 0.7708 0.4075 0.1860 0.0060 0.2326 0.2367 0.25 0.1604 0.3775 0.7621 0.3762 0.1767 0.0044 0.2400 0.2380 0.2593 het 749.60 51 2 73679280 . A G 749.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.489;DP=51;Dels=0.00;FS=2.482;HRun=0;HaplotypeScore=0.9159;MQ=58.68;MQ0=0;MQRankSum=-1.032;QD=14.70;ReadPosRankSum=-0.066;VQSLOD=5.7324;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,28:51:99:780,0,607 2 73679866 73679866 T C exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.T6209C:p.I2070T 0.1 0.079 0.18 0.004 0.16 0.13 0.1432 0.0815 0.1729 0.0054 0.1316 0.1661 0.1403 0.1428 0.14 0.08 0.17 0.098 0.19 rs10496192 . . Benign not_specified RCV000427680.1 MedGen CN169374 . . . . . . . . . 0.019 0.202 B 0.013 0.201 B 0.322 0.143 N 1 0.090 P 0.965 0.241 L . . . . . . 0.086 0.104 -1.004 0.287 T 0.000 0.000 T . . . -1.516 0.016 0.002 0.561 0.054 0.042 0.096 N c -1.261 -1.356 0.982 0.303 0.651 0.465 0 -5.09 0.027 -0.124 0.105 -0.227 0.095 0.486 0.266 0.001 0.043 2.743 0.049 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000114978.13|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000116127.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.1452 0.0791 0.1779 0.1410 0.0042 0.1304 0.1698 0.1498 0.1441 0.1265 0.0822 0.1587 0.1391 0.0025 0.1269 0.1628 0.1367 het 878.52 58 2 73679866 . T C 878.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.492;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=0.343;QD=15.15;ReadPosRankSum=1.793;VQSLOD=5.9548;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:909,0,665 2 73679990 73679990 T A exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.T6333A:p.S2111R 0.36 0.88 0.39 0.0089 0.23 0.16 0.2699 0.7794 0.4203 0.0078 0.2289 0.2357 0.2309 0.1593 0.4 0.74 0.24 0.48 0.32 rs6724782 COSM4133927 1(thyroid) Benign not_specified RCV000418977.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.921 0.075 N 1 0.090 P -0.285 0.037 N . . . . . . 0.077 0.094 -0.962 0.388 T 0.000 0.000 T . . . -1.275 0.023 0.005 0.660 0.077 0.001 0.009 N c -1.801 -1.801 0.998 0.361 0.651 0.465 0 -5.06 0.027 -0.080 0.112 -0.746 0.035 0.000 0.063 0.000 0.016 0.559 0.006 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2668 0.7839 0.4088 0.2035 0.0060 0.2323 0.2367 0.2520 0.1603 0.3816 0.775 0.3792 0.2086 0.0043 0.2391 0.2376 0.2618 het 283.41 37 2 73679990 . T A 283.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.779;DP=37;Dels=0.00;FS=1.334;HRun=0;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;MQRankSum=-1.384;QD=7.66;ReadPosRankSum=-0.366;VQSLOD=4.4923;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,13:37:99:313,0,641 2 73680508 73680508 G C exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon8:c.G6851C:p.R2284P 0.36 0.88 0.39 0.0089 0.23 0.16 0.2696 0.7791 0.4202 0.0078 0.2283 0.2344 0.2304 0.1592 0.4 0.74 0.24 0.48 0.31 rs6546839 . . Benign not_specified RCV000439494.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.003 0.351 N 1.000 0.205 P -1.935 0.002 N . . . . . . 0.443 0.519 -0.991 0.323 T 0.000 0.000 T . . . 2.150 0.320 17.18 0.701 0.089 0.011 0.040 N c -0.735 -0.414 0.998 0.370 0.732 0.924 0 5.49 0.809 3.132 0.500 0.067 0.174 0.987 0.361 0.998 0.697 12.855 0.571 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2672 0.7842 0.4091 0.2040 0.0060 0.2325 0.2367 0.2525 0.1603 0.3813 0.7753 0.3813 0.2086 0.0044 0.2396 0.2373 0.2612 het 784.55 56 2 73680508 . G C 784.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.688;DP=56;Dels=0.00;FS=2.250;HRun=3;HaplotypeScore=0.9933;MQ=59.59;MQ0=0;MQRankSum=1.635;QD=14.01;ReadPosRankSum=0.518;VQSLOD=6.1196;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,26:56:99:815,0,726 2 73717567 73717567 G T exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon10:c.G8478T:p.R2826S 0.36 0.86 0.39 0.0089 0.23 0.16 0.2663 0.7646 0.4184 0.0078 0.2283 0.2312 0.2243 0.1591 0.39 0.73 0.24 0.48 0.29 rs2056486 COSM4133929 1(thyroid) Benign not_specified RCV000423416.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.152 0.179 N 1 0.090 P -0.975 0.012 N . . . . . . 0.027 0.098 -1.042 0.168 T 0.000 0.000 T . . . -0.450 0.058 0.291 0.694 0.087 0.002 0.010 N c -1.471 -1.364 0.000 0.044 0.707 0.730 0 0.258 0.148 0.023 0.133 0.152 0.238 0.000 0.063 0.296 0.236 6.689 0.222 . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2633 0.7700 0.4075 0.1512 0.0060 0.2320 0.2359 0.2481 0.1602 0.3767 0.7621 0.3780 0.1577 0.0043 0.2391 0.2368 0.2592 het 581 42 2 73717567 . G T 581 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.614;DP=42;Dels=0.00;FS=1.218;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-0.708;QD=13.83;ReadPosRankSum=-0.733;VQSLOD=6.3938;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,23:42:99:611,0,596 2 73717656 73717656 A G exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon10:c.A8567G:p.N2856S 0.36 0.86 0.39 0.0089 0.23 0.16 0.2661 0.7644 0.4183 0.0078 0.2281 0.2310 0.2277 0.1592 0.39 0.72 0.24 0.48 0.3 rs10193972 . . Benign not_specified RCV000430188.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N . . . . . . 0.004 0.000 -1.092 0.052 T 0.000 0.000 T . . . -1.121 0.028 0.009 0.928 0.218 0.011 0.041 N c -1.431 -1.407 0.000 0.048 0.707 0.730 0 0.225 0.145 -0.502 0.064 -0.494 0.052 0.877 0.307 0.875 0.366 . . . ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2634 0.7701 0.4077 0.1508 0.0060 0.2323 0.2360 0.2485 0.1602 0.3766 0.7621 0.3780 0.1556 0.0043 0.2390 0.2366 0.2592 het 1576.63 120 2 73717656 . A G 1576.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.624;DP=120;Dels=0.00;FS=0.753;HRun=0;HaplotypeScore=1.9928;MQ=59.53;MQ0=0;MQRankSum=-1.694;QD=13.14;ReadPosRankSum=0.512;VQSLOD=5.6300;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,58:120:99:1607,0,1718 2 73746923 73746923 C T exonic ALMS1 synonymous SNV ALMS1:NM_015120:exon11:c.C9558T:p.T3186T 0.26 0.57 0.23 0.005 0.21 0.15 0.2169 0.5029 0.2071 0.0055 0.2087 0.2207 0.1882 0.1543 0.3 0.48 0.23 0.35 0.25 rs11884776 . . Benign not_specified RCV000440420.1 MedGen CN169374 Urinary metabolites (H-NMR features) . -0.35 24586186 rs11884776 6E-17 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2127 0.5081 0.2147 0.1382 0.0042 0.2134 0.2264 0.2047 0.1559 0.2913 0.5023 0.2098 0.1457 0.0025 0.2167 0.2288 0.2270 het 696.08 69 2 73746923 . C T 696.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.142;DP=69;Dels=0.00;FS=2.021;HRun=0;HaplotypeScore=0.9997;MQ=59.73;MQ0=0;MQRankSum=-1.137;QD=10.09;ReadPosRankSum=-0.954;VQSLOD=5.7868;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,29:69:99:726,0,1024 2 73828538 73828538 G A exonic ALMS1 nonsynonymous SNV ALMS1:NM_015120:exon19:c.G12086A:p.R4029K 0.58 0.25 0.71 0.76 0.66 0.69 0.6334 0.3248 0.7337 0.7539 0.6322 0.6375 0.6641 0.6694 0.54 0.34 0.64 0.51 0.46 rs1052161 COSM4133930 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000434771.1 MedGen CN169374 . . . . . . . . . 0.001 0.067 B 0.002 0.063 B 0.659 0.060 N 1 0.090 P -0.345 0.033 N . . . . . . 0.024 0.031 -0.967 0.378 T 0.000 0.000 T . . . -1.681 0.013 0.002 0.278 0.014 0.003 0.018 N c -1.869 -1.884 0.894 0.259 0.706 0.609 0 -6.29 0.018 -1.723 0.020 -0.524 0.049 0.000 0.063 0.007 0.100 12.942 0.576 . ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144034.10|ENSG00000144034.10|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000116127.13|ENSG00000163016.5|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.6404 0.3093 0.7273 0.6831 0.7554 0.6273 0.6318 0.6490 0.6708 0.5536 0.3223 0.7148 0.6722 0.7364 0.6319 0.6335 0.6319 het 738.04 58 2 73828538 . G A 738.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.670;DP=58;Dels=0.00;FS=1.840;HRun=1;HaplotypeScore=1.8650;MQ=60.00;MQ0=0;MQRankSum=1.715;QD=12.72;ReadPosRankSum=-0.998;VQSLOD=5.9574;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,27:58:99:768,0,973 2 73829372 73829372 C T exonic ALMS1 synonymous SNV ALMS1:NM_015120:exon20:c.C12172T:p.L4058L 0.34 0.8 0.38 0.0089 0.23 0.15 0.2636 0.7234 0.4125 0.0074 0.2275 0.2300 0.2257 0.1573 0.39 0.7 0.24 0.47 0.27 rs1052162 . . Benign not_specified RCV000444290.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.7222 0.4028 0.1508 0.0057 0.2314 0.2353 0.2450 0.1589 0.3631 0.7161 0.3753 0.1523 0.0043 0.2382 0.2365 0.2546 het 990.43 77 2 73829372 . C T 990.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.342;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.46;MQ0=0;MQRankSum=0.087;QD=12.86;ReadPosRankSum=-0.077;VQSLOD=7.2702;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,36:77:99:1020,0,1117 2 73868328 73868328 A G exonic NAT8 nonsynonymous SNV NAT8:NM_003960:exon2:c.T428C:p.F143S 0.27 0.62 0.26 0.005 0.21 0.14 0.2186 0.5496 0.2146 0.0053 0.1803 0.2176 0.1854 0.1456 0.33 0.53 0.22 0.36 0.27 rs13538 COSM3927765 2(pancreas);5(prostate) . . . . . Chronic kidney disease . .01 20383146 rs13538 5E-14 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.161 0.177 N 1 0.090 P 0.19 0.091 N 1.95 0.225 T 3.63 0.001 N 0.065 0.051 -1.012 0.264 T 0.000 0.000 T . . . -3.438 0.000 0.001 0.279 0.014 0.010 0.038 N c -2.498 -2.526 1.000 0.747 0.487 0.133 0 -7.73 0.011 -0.087 0.111 -2.391 0.003 0.000 0.063 0.000 0.016 3.591 0.075 Acyl-CoA N-acyltransferase|GNAT domain ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000144034.10|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000116127.13|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000163016.5|ENSG00000144035.3|ENSG00000163016.5|ENSG00000163016.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.2126 0.5544 0.2232 0.1701 0.0041 0.1866 0.2220 0.2035 0.1476 0.2954 0.5459 0.2120 0.1689 0.0025 0.1906 0.2188 0.2111 het 2250.18 169 2 73868328 . A G 2250.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.882;DP=169;Dels=0.00;FS=2.031;HRun=0;HaplotypeScore=2.6141;MQ=57.61;MQ0=0;MQRankSum=-0.032;QD=13.31;ReadPosRankSum=1.063;VQSLOD=4.1076;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,87:169:99:2280,0,2260 2 73927931 73927931 A G exonic NAT8B unknown UNKNOWN 0.77 0.86 0.77 0.71 0.74 0.73 0.7274 0.835 0.7800 0.6915 0.7391 0.7133 0.7384 0.6932 0.75 0.83 0.71 0.81 . rs4852974 COSN8868312;COSN20281658;COSN8868313;COSN19622908 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7264 0.8359 0.7745 0.7209 0.6963 0.7420 0.7080 0.7266 0.6933 0.7585 0.8345 0.7698 0.6954 0.6948 0.7503 0.7238 0.7566 het 1677.96 110 2 73927931 . A G 1677.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.361;DP=110;Dels=0.00;FS=4.868;HRun=1;HaplotypeScore=4.1595;MQ=59.14;MQ0=0;MQRankSum=-0.814;QD=15.25;ReadPosRankSum=0.311;VQSLOD=4.6484;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,57:110:99:1708,0,1490 2 73928098 73928098 C G exonic NAT8B unknown UNKNOWN 0.58 0.36 0.59 0.64 0.67 0.69 0.6147 0.3931 0.5436 0.6452 0.6304 0.6408 0.6333 0.6751 0.56 0.41 0.64 0.64 . rs2001490 COSN8868314;COSN8868315;COSN19624523;COSN20282138 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6164 0.3893 0.5551 0.6708 0.6490 0.6281 0.6371 0.6242 0.6758 0.5688 0.4002 0.5742 0.6523 0.6399 0.6281 0.6386 0.6405 het 2941.96 184 2 73928098 . C G 2941.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.706;DP=184;Dels=0.00;FS=4.336;HRun=0;HaplotypeScore=4.6575;MQ=59.06;MQ0=0;MQRankSum=-1.089;QD=15.99;ReadPosRankSum=-0.750;VQSLOD=3.7764;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,97:184:99:2972,0,2382 2 73928366 73928366 G C exonic NAT8B unknown UNKNOWN 0.55 0.24 0.58 0.64 0.67 0.7 0.6072 0.3008 0.5353 0.6430 0.6302 0.6394 0.6281 0.6834 0.53 0.32 0.64 0.6 . rs2012574 COSN8868317;COSN8868316;COSN20281128;COSN19622909 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6083 0.2940 0.5476 0.6519 0.6487 0.6284 0.6364 0.6184 0.6766 0.5413 0.3070 0.5694 0.6192 0.6392 0.6284 0.6375 0.6358 het 2183.28 210 2 73928366 . G C 2183.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.579;DP=210;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=6.6310;MQ=59.38;MQ0=0;MQRankSum=0.819;QD=10.40;ReadPosRankSum=0.926;VQSLOD=3.9572;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,97:210:99:2213,0,2979 2 73957124 73957124 A G exonic TPRKB synonymous SNV TPRKB:NM_001330389:exon5:c.T474C:p.I158I,TPRKB:NM_001330391:exon5:c.T375C:p.I125I,TPRKB:NM_001330392:exon5:c.T375C:p.I125I,TPRKB:NM_016058:exon5:c.T474C:p.I158I,TPRKB:NM_001330386:exon6:c.T591C:p.I197I,TPRKB:NM_001330387:exon6:c.T591C:p.I197I,TPRKB:NM_001330388:exon6:c.T474C:p.I158I,TPRKB:NM_001330390:exon6:c.T420C:p.I140I 0.57 0.29 0.58 0.7 0.69 0.69 0.6452 0.3738 0.5532 0.7080 0.7082 0.6762 0.6645 0.6853 0.57 0.39 0.66 0.61 0.34 rs7210 COSM3758365 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6288 0.3471 0.5412 0.6460 0.7027 0.6949 0.6524 0.6370 0.6701 0.5834 0.3653 0.5883 0.6126 0.6920 0.6959 0.6655 0.6755 het 582.27 58 2 73957124 . A G 582.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.313;DP=58;Dels=0.00;FS=1.017;HRun=0;HaplotypeScore=0.0000;MQ=57.55;MQ0=0;MQRankSum=0.691;QD=10.04;ReadPosRankSum=-1.445;VQSLOD=4.6062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,25:58:99:612,0,910 2 74274329 74274329 C T exonic TET3 nonsynonymous SNV TET3:NM_001287491:exon3:c.C1285T:p.P429S 0.024 0.0015 0.049 . 0.075 0.01 0.0428 0.0098 0.0283 0.0001 0.0445 0.0616 0.0612 0.0174 0.042 0.011 0.057 0.011 . rs61741171 COSM5020960 1(soft_tissue) . . . . . . . . . . . 0.0 0.912 D 0.976 0.564 D 0.761 0.547 P . . . 0.998 0.443 D 0.695 0.181 N 1.66 0.275 T -0.71 0.202 N 0.086 0.117 -1.156 0.009 T 0.009 0.031 T . . . 1.051 0.195 10.95 0.984 0.402 0.919 0.543 D c 0.179 0.192 1.000 0.747 0.672 0.522 0 5.84 0.934 2.773 0.471 0.935 0.490 0.635 0.278 0.973 0.468 18.899 0.924 . ENSG00000115274.10 Cells_Transformed_fibroblasts 0.0437 0.0096 0.0336 0.0626 0.0001 0.0506 0.0619 0.0513 0.0176 0.0405 0.0106 0.0513 0.0397 0 0.0458 0.0600 0.0482 het 1764.96 126 2 74274329 . C T 1764.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.559;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6838;MQ=59.47;MQ0=0;MQRankSum=1.765;QD=14.01;ReadPosRankSum=-1.053;VQSLOD=4.3596;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:56,70:126:99:1795,0,1422 2 74466594 74466594 G A exonic SLC4A5 synonymous SNV SLC4A5:NM_021196:exon16:c.C2187T:p.G729G,SLC4A5:NM_133478:exon21:c.C2187T:p.G729G 0.23 0.14 0.23 0.2 0.43 0.17 0.3413 0.1899 0.1712 0.1833 0.5625 0.4292 0.3789 0.1924 0.35 0.2 0.42 0.29 0.34 rs4853018 COSM1409511;COSM1409512 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3431 0.1867 0.1791 0.4348 0.1870 0.5619 0.4252 0.3695 0.1971 0.3658 0.1853 0.2273 0.4305 0.2017 0.5441 0.4482 0.4466 het 1749.13 128 2 74466594 . G A 1749.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.116;DP=128;Dels=0.00;FS=2.325;HRun=0;HaplotypeScore=1.9628;MQ=59.16;MQ0=0;MQRankSum=-0.136;QD=13.67;ReadPosRankSum=4.473;VQSLOD=3.3525;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,67:128:99:1779,0,1549 2 74489318 74489318 G A exonic SLC4A5 nonsynonymous SNV SLC4A5:NM_021196:exon6:c.C757T:p.H253Y,SLC4A5:NM_133478:exon11:c.C757T:p.H253Y 0.051 0.014 0.035 0.11 0.042 0.063 0.0504 0.0149 0.0224 0.1265 0.0337 0.0482 0.0594 0.0673 0.038 0.015 0.05 0.043 0.049 rs55651232 . . . . . . . . . . . . . 0.524 0.096 T 0.003 0.515 B 0.014 0.477 B 0.344 0.139 N 0.868 0.282 P 1.685 0.434 L -0.26 0.672 T -1.95 0.501 N 0.127 0.235 -1.021 0.234 T 0.003 0.009 T . . . 0.430 0.135 6.874 0.988 0.468 0.824 0.414 D c -0.300 -0.206 1.000 0.747 0.615 0.372 0 4.42 0.526 4.696 0.612 0.953 0.551 1.000 0.715 0.219 0.221 12.409 0.546 Band 3 cytoplasmic domain|Phosphotransferase/anion transporter . . 0.0481 0.0149 0.0218 0.0285 0.1230 0.0328 0.0492 0.0480 0.0643 0.0372 0.0169 0.0274 0.0298 0.1163 0.0344 0.0410 0.0511 het 875.85 64 2 74489318 . G A 875.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.473;DP=64;Dels=0.00;FS=2.076;HRun=0;HaplotypeScore=0.7887;MQ=58.09;MQ0=0;MQRankSum=-0.440;QD=13.69;ReadPosRankSum=-2.037;VQSLOD=4.2671;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,36:64:99:906,0,802 2 74725144 74725144 T C exonic LBX2 synonymous SNV LBX2:NM_001009812:exon2:c.A495G:p.E165E,LBX2:NM_001282430:exon2:c.A507G:p.E169E 0.97 0.99 0.96 1. 0.93 0.97 0.9468 0.9875 0.9744 0.9997 0.9370 0.9270 0.9588 0.9572 0.94 0.99 0.92 0.91 0.72 rs6546908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9462 0.9885 0.9671 0.9601 0.9997 0.9379 0.9231 0.9444 0.9572 0.9464 0.9845 0.9666 0.9669 1 0.9313 0.9212 0.9348 het 800.40 76 2 74725144 . T C 800.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.640;DP=76;Dels=0.00;FS=10.028;HRun=2;HaplotypeScore=3.4912;MQ=59.51;MQ0=0;MQRankSum=-1.415;QD=10.53;ReadPosRankSum=-0.533;VQSLOD=3.9229;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,31:76:99:830,0,1196 2 75104329 75104329 G A exonic HK2 synonymous SNV HK2:NM_000189:exon8:c.G912A:p.E304E 0.0014 0.0008 . . 0.006 . 0.0026 0.0012 0.0011 0 0.0015 0.0040 0.0011 0.0005 0.0036 0.0011 0.0049 0.011 . rs28363014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0022 0.0010 0.0006 0.0001 0 0.0014 0.0040 0.0035 0.0005 0.0025 0.0007 0 0 0 0.0017 0.0041 0.0031 het 3026.47 248 2 75104329 . G A 3026.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.190;DP=248;DS;Dels=0.00;FS=8.097;HRun=1;HaplotypeScore=3.5604;MQ=58.97;MQ0=0;MQRankSum=0.142;QD=12.20;ReadPosRankSum=-2.014;VQSLOD=3.6259;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:132,115:248:99:3056,0,3810 2 75113657 75113657 C T exonic HK2 synonymous SNV HK2:NM_000189:exon15:c.C2076T:p.N692N 0.51 0.75 0.35 0.41 0.47 0.47 0.4512 0.7026 0.3065 0.4155 0.4120 0.4436 0.4306 0.4602 0.52 0.69 0.43 0.61 0.46 rs2229626 COSM4001752 5(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4401 0.7083 0.3158 0.4669 0.4128 0.4162 0.4425 0.4402 0.4578 0.5028 0.6996 0.3341 0.4733 0.4151 0.4106 0.4331 0.4450 het 2231.49 160 2 75113657 . C T 2231.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.728;DP=160;Dels=0.00;FS=1.263;HRun=0;HaplotypeScore=5.4386;MQ=58.86;MQ0=0;MQRankSum=2.037;QD=13.95;ReadPosRankSum=0.773;VQSLOD=4.9396;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,87:160:99:2261,0,1868 2 75113789 75113789 C G exonic HK2 synonymous SNV HK2:NM_000189:exon15:c.C2208G:p.P736P 0.52 0.42 0.49 0.46 0.62 0.63 0.5721 0.4467 0.4195 0.4548 0.6140 0.6101 0.6026 0.6469 0.55 0.45 0.6 0.55 0.56 rs2229627 COSM4415315 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5676 0.4410 0.4311 0.6177 0.4533 0.6121 0.6078 0.5989 0.6439 0.5501 0.4280 0.4499 0.6026 0.4444 0.6248 0.6172 0.5859 het 1380.02 134 2 75113789 . C G 1380.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.654;DP=134;Dels=0.00;FS=6.211;HRun=2;HaplotypeScore=0.7340;MQ=59.83;MQ0=0;MQRankSum=1.331;QD=10.30;ReadPosRankSum=1.029;VQSLOD=4.8002;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,54:134:99:1410,0,1908 2 75115108 75115108 A G exonic HK2 synonymous SNV HK2:NM_000189:exon16:c.A2298G:p.L766L 0.52 0.42 0.47 0.48 0.63 0.64 0.5907 0.4532 0.4062 0.4799 0.6682 0.6342 0.6244 0.6554 0.57 0.46 0.63 0.6 0.6 rs10194657 COSM148879 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5836 0.4465 0.4190 0.6070 0.4754 0.6634 0.6297 0.6154 0.6541 0.5728 0.4390 0.4486 0.5767 0.4602 0.6767 0.6428 0.6125 het 4032.63 217 2 75115108 . A G 4032.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.387;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4360;MQ=58.79;MQ0=0;MQRankSum=-1.641;QD=18.58;ReadPosRankSum=1.486;VQSLOD=2.8145;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,123:217:99:3508,0,2030 2 75720372 75720372 C T exonic EVA1A nonsynonymous SNV EVA1A:NM_001135032:exon4:c.G449A:p.R150H,EVA1A:NM_032181:exon4:c.G449A:p.R150H 0.044 0.076 0.036 0.001 0.055 0.04 0.0459 0.0715 0.0244 0.0006 0.0216 0.0546 0.0513 0.0463 0.055 0.064 0.051 0.011 0.066 rs11126472 COSM4133948 1(thyroid) . . . . . . . . . . . 0.15 0.246 T 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 1 0.810 D 2.125 0.592 M 0.68 0.520 T -0.56 0.170 N 0.203 0.358 -0.909 0.470 T 0.038 0.164 T . . . 6.384 0.881 29.5 0.999 0.998 0.979 0.776 D c 0.803 0.757 1.000 0.747 0.707 0.730 0 4.79 0.608 6.073 0.707 0.935 0.490 1.000 0.715 0.997 0.653 16.139 0.812 . . . 0.0413 0.0693 0.0232 0.0584 0.0003 0.0237 0.0523 0.0485 0.0372 0.0468 0.0711 0.0227 0.0331 0 0.0186 0.0467 0.0336 het 2122.84 169 2 75720372 . C T 2122.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.195;DP=169;DS;Dels=0.00;FS=1.284;HRun=0;HaplotypeScore=3.8449;MQ=59.09;MQ0=0;MQRankSum=-0.024;QD=12.56;ReadPosRankSum=-0.228;VQSLOD=6.3173;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,80:169:99:2153,0,2137 2 75720569 75720577 GCTGTCGCT - exonic EVA1A nonframeshift deletion EVA1A:NM_001135032:exon4:c.244_252del:p.S82_S84del,EVA1A:NM_032181:exon4:c.244_252del:p.S82_S84del 0.044 0.077 0.036 0.001 0.054 0.04 0.0442 0.0698 0.0241 0.0006 0.0214 0.0529 0.0453 0.0390 0.059 0.071 0.053 . . rs148155576 COSM5713063 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0412 0.0703 0.0231 0.0580 0.0003 0.0233 0.0519 0.0478 0.0370 0.0469 0.0716 0.0239 0.0331 0 0.0186 0.0467 0.0336 het 1492.17 92 2 75720568 . CGCTGTCGCT C 1492.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.738;DP=92;FS=3.406;HRun=0;HaplotypeScore=718.0055;MQ=52.15;MQ0=0;MQRankSum=-5.524;QD=16.22;ReadPosRankSum=-1.064;set=variant2 GT:AD:DP:GQ:PL 0/1:70,22:92:99:1531,0,6544 2 75879359 75879359 G A exonic MRPL19 nonsynonymous SNV MRPL19:NM_014763:exon3:c.G313A:p.V105I 0.007 0.0008 0.011 . 0.015 0.011 0.0064 0.0015 0.0051 0 0.0038 0.0089 0.0067 0.0050 0.0066 0.0008 0.0091 0.011 . rs41382847 . . . . . . . . . . . . . 0.337 0.128 T 0.049 0.208 B 0.139 0.319 B 0.006 0.326 N 0.820 0.347 D 2.215 0.627 M . . . -0.62 0.183 N 0.053 0.035 -0.902 0.478 T 0.160 0.495 T . . . 1.361 0.227 12.58 0.884 0.174 0.878 0.472 D c -0.430 -0.373 0.988 0.315 0.732 0.924 0 -0.463 0.115 2.128 0.414 -0.694 0.038 1.000 0.715 0.925 0.399 10.753 0.452 Translation protein SH3-like domain . . 0.0067 0.0011 0.0069 0.0133 0 0.0042 0.0087 0.0089 0.0049 0.0054 0.0015 0.0060 0.0567 0 0.0023 0.0078 0.0061 het 791.23 74 2 75879359 . G A 791.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.551;DP=74;Dels=0.00;FS=0.934;HRun=4;HaplotypeScore=0.6651;MQ=58.61;MQ0=0;MQRankSum=-0.267;QD=10.69;ReadPosRankSum=-0.998;VQSLOD=5.6640;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,32:74:99:821,0,1180 2 75882399 75882399 G A exonic MRPL19 synonymous SNV MRPL19:NM_014763:exon6:c.G867A:p.S289S 0.18 0.018 0.23 0.16 0.24 0.3 0.2395 0.0445 0.3142 0.1591 0.3160 0.2483 0.2344 0.2797 0.19 0.048 0.26 0.12 0.19 rs17689863 COSM3758376 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2444 0.0432 0.3044 0.2012 0.1584 0.3113 0.2492 0.2386 0.2766 0.2079 0.0494 0.3197 0.2315 0.1625 0.3104 0.2713 0.2645 hom 1496.33 49 2 75882399 . G A 1496.33 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=30.54;VQSLOD=9.3209;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1529,120,0 2 75915035 75915035 C T exonic GCFC2 synonymous SNV GCFC2:NM_001201334:exon11:c.G1101A:p.V367V,GCFC2:NM_003203:exon11:c.G1608A:p.V536V 0.51 0.79 0.46 0.38 0.39 0.43 0.4412 0.7365 0.5207 0.3944 0.4656 0.3944 0.3951 0.4059 0.51 0.73 0.4 0.54 0.28 rs1803196 COSM148880 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4371 0.7404 0.5040 0.3004 0.3999 0.4669 0.3994 0.4061 0.3991 0.5152 0.7333 0.4905 0.3510 0.4084 0.4645 0.4206 0.4499 hom 1698.62 57 2 75915035 . C T 1698.62 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;QD=29.80;VQSLOD=8.2277;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1732,135,0 2 75923413 75923413 T C exonic GCFC2 nonsynonymous SNV GCFC2:NM_001201334:exon5:c.A239G:p.N80S,GCFC2:NM_003203:exon5:c.A746G:p.N249S 0.55 0.8 0.52 0.41 0.47 0.47 0.4987 0.7498 0.5678 0.4297 0.5083 0.4685 0.4723 0.4538 0.56 0.74 0.47 0.61 0.38 rs7560262 COSM148881 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(kidney);1(pancreas);4(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.445 0.126 N 1 0.090 P 0 0.065 N 2.58 0.263 T 0.85 0.017 N 0.017 0.003 -1.000 0.299 T 0.000 0.000 T . . . -2.467 0.004 0.001 0.146 0.003 0.000 0.004 N c -1.579 -1.457 0.005 0.108 0.732 0.924 0 2.75 0.313 0.140 0.158 -0.339 0.072 0.000 0.063 0.000 0.016 8.755 0.336 . ENSG00000115364.9|ENSG00000115364.9|ENSG00000271452.1|ENSG00000005436.9|ENSG00000115364.9|ENSG00000005436.9|ENSG00000005436.9|ENSG00000115364.9|ENSG00000005436.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000005436.9|ENSG00000115364.9|ENSG00000270696.1|ENSG00000115364.9|ENSG00000271452.1|ENSG00000115364.9|ENSG00000115364.9|ENSG00000271452.1|ENSG00000005436.9|ENSG00000115364.9|ENSG00000005436.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000005436.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000271452.1|ENSG00000005436.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000115364.9|ENSG00000115364.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.4962 0.7493 0.5526 0.3921 0.4378 0.5119 0.4717 0.4874 0.4539 0.5649 0.7459 0.5540 0.4139 0.4460 0.5049 0.4940 0.5010 hom 2338.95 75 2 75923413 . T C 2338.95 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59.02;MQ0=0;QD=31.19;VQSLOD=9.4418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2372,181,0 2 79254261 79254261 T C exonic REG3G synonymous SNV REG3G:NM_001008387:exon4:c.T297C:p.Y99Y,REG3G:NM_198448:exon4:c.T297C:p.Y99Y 0.86 0.84 0.9 0.91 0.8 0.86 0.8454 0.8413 0.9270 0.9102 0.8930 0.8202 0.8568 0.8388 0.82 0.83 0.81 0.86 0.84 rs452267 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8478 0.8446 0.9096 0.7696 0.9154 0.8887 0.8210 0.8316 0.8391 0.8522 0.8445 0.9010 0.7682 0.9259 0.8974 0.8372 0.8510 hom 5975 175 2 79254261 . T C 5975 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.66;MQ0=0;QD=34.14;VQSLOD=9.8563;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5975,466,0 2 80529956 80529956 T C exonic LRRTM1 nonsynonymous SNV LRRTM1:NM_178839:exon2:c.A989G:p.N330S 0.37 0.51 0.32 0.48 0.18 0.28 0.2693 0.4594 0.3964 0.4946 0.2457 0.1883 0.2664 0.2783 0.27 0.45 0.18 0.4 0.17 rs6733871 COSM4133953;COSM4133952 1(thyroid) . . . . . . . . . . . 0.432 0.095 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.000 0.588 P -2.08 0.002 N 1.08 0.394 T -0.22 0.105 N 0.014 0.007 -0.926 0.447 T 0.000 0.000 T . . . -0.321 0.067 0.595 0.763 0.110 0.353 0.250 N c -0.881 -0.601 0.999 0.379 0.652 0.477 0 3.46 0.386 2.205 0.422 -0.339 0.072 1.000 0.715 0.988 0.529 10.573 0.442 Leucine-rich repeat domain\x2c L domain-like . . 0.2653 0.4543 0.3806 0.1564 0.4849 0.2374 0.1847 0.2261 0.2763 0.2921 0.4486 0.3532 0.1556 0.4709 0.2361 0.1974 0.2449 het 882 63 2 80529956 . T C 882 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.640;DP=63;Dels=0.00;FS=8.922;HRun=0;HaplotypeScore=0.8941;MQ=59.27;MQ0=0;MQRankSum=0.846;QD=14.00;ReadPosRankSum=0.076;VQSLOD=4.9417;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,32:63:99:912,0,809 2 84800605 84800605 C A exonic DNAH6 synonymous SNV DNAH6:NM_001370:exon12:c.C1818A:p.A606A 0.93 0.83 0.96 1. 0.95 0.95 0.9465 0.8340 0.9724 0.9979 0.9658 0.9494 0.9537 0.9524 0.91 0.84 0.94 0.89 0.92 rs11891970 . . Benign not_specified RCV000454775.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9489 0.8297 0.9691 0.9848 0.9983 0.9619 0.9469 0.9565 0.9506 0.9249 0.8383 0.9690 0.9768 0.9975 0.9659 0.9525 0.9560 hom 2012.27 65 2 84800605 . C A 2012.27 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4008;MQ=56.29;MQ0=0;QD=30.96;VQSLOD=4.2540;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2045,157,0 2 85549868 85549868 A G exonic TGOLN2 nonsynonymous SNV TGOLN2:NM_001206841:exon4:c.T1322C:p.L441P 0.78 0.81 0.8 0.96 0.6 0.72 0.6764 0.7905 0.8311 0.9643 0.6151 0.5942 0.6964 0.7053 0.66 0.79 0.61 0.81 . rs4240199 . . . . . . . . . . . . . 0.303 0.143 T . . . . . . . . . 1 0.810 P . . . 2.42 0.154 T -0.22 0.105 N . . -1.042 0.165 T 0.000 0.000 T . . . 1.269 0.217 12.11 0.286 0.015 0.002 0.011 N c -1.108 -1.313 1.000 0.480 0.563 0.310 0 -3.58 0.043 -1.826 0.018 -0.451 0.056 0.000 0.063 0.001 0.043 4.181 0.098 . ENSG00000042493.11|ENSG00000042493.11|ENSG00000152291.9|ENSG00000042493.11|ENSG00000152291.9|ENSG00000152291.9|ENSG00000042493.11|ENSG00000152291.9|ENSG00000152291.9|ENSG00000042493.11|ENSG00000152291.9|ENSG00000042493.11|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152292.12|ENSG00000042493.11|ENSG00000246575.2|ENSG00000042493.11|ENSG00000152291.9|ENSG00000042445.9|ENSG00000246575.2 Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6795 0.7918 0.8173 0.6754 0.9695 0.6143 0.5878 0.6740 0.7002 0.6751 0.7840 0.8007 0.6567 0.9685 0.5994 0.5943 0.6237 het 632.46 48 2 85549868 . A G 632.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.169;DP=48;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.3838;MQ=59.52;MQ0=0;MQRankSum=0.776;QD=13.18;ReadPosRankSum=0.859;VQSLOD=4.5648;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:22,26:48:99:662,0,559 2 85553784 85553784 C T exonic TGOLN2 synonymous SNV TGOLN2:NM_001206841:exon2:c.G1071A:p.G357G,TGOLN2:NM_006464:exon2:c.G1071A:p.G357G,TGOLN2:NM_001206844:exon3:c.G897A:p.G299G 0.66 0.55 0.72 0.88 0.53 0.66 0.6046 0.5526 0.7542 0.8845 0.5992 0.5398 0.6392 0.6464 0.55 0.58 0.54 0.67 . rs1044973 COSM5653852;COSM5653851 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6116 0.5532 0.7425 0.6502 0.8872 0.5919 0.5287 0.6239 0.6439 0.5728 0.5497 0.7375 0.6258 0.8892 0.5789 0.5391 0.5922 het 2088.12 195 2 85553784 . C T 2088.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.324;DP=195;Dels=0.00;FS=10.731;HRun=1;HaplotypeScore=5.9455;MQ=59.79;MQ0=0;MQRankSum=-1.069;QD=10.71;ReadPosRankSum=-0.119;VQSLOD=3.7803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,80:195:99:2118,0,3346 2 85554080 85554080 G A exonic TGOLN2 nonsynonymous SNV TGOLN2:NM_001206841:exon2:c.C775T:p.R259W,TGOLN2:NM_006464:exon2:c.C775T:p.R259W 0.58 0.34 0.68 0.87 0.49 0.63 0.5586 0.3615 0.7295 0.8804 0.5592 0.5009 0.5902 0.6187 0.45 0.36 0.49 0.54 . rs4247303 COSM4999395;COSM1409767 1(pancreas) . . . . . . . . . . . 0.013 0.564 D 0.999 0.764 D 0.844 0.586 P . . . 1 0.090 P 1.245 0.315 L 2.83 0.108 T -2.01 0.478 N 0.085 0.080 -0.807 0.548 T 0.000 0.000 T . . . 3.174 0.441 22.7 0.943 0.241 0.006 0.026 N c -1.257 -1.576 1.000 0.747 0.543 0.218 0 -3.74 0.041 -5.302 0.002 -1.702 0.008 0.000 0.063 0.000 0.016 0.942 0.013 . ENSG00000152291.9|ENSG00000152284.4|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000042445.9|ENSG00000246575.2|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000152291.9|ENSG00000246575.2|ENSG00000152291.9|ENSG00000042445.9|ENSG00000246575.2 Adipose_Subcutaneous|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5681 0.3575 0.7180 0.6029 0.8827 0.5497 0.4904 0.5710 0.6163 0.4901 0.3631 0.7029 0.5728 0.8885 0.5427 0.4913 0.5481 het 1780.46 137 2 85554080 . G A 1780.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.775;DP=137;Dels=0.00;FS=0.721;HRun=0;HaplotypeScore=1.7825;MQ=59.39;MQ0=0;MQRankSum=-0.096;QD=13.00;ReadPosRankSum=1.202;VQSLOD=6.6407;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,65:137:99:1810,0,1770 2 85622059 85622059 T C exonic CAPG nonsynonymous SNV CAPG:NM_001320734:exon9:c.A911G:p.H304R,CAPG:NM_001256139:exon10:c.A1004G:p.H335R,CAPG:NM_001256140:exon10:c.A959G:p.H320R,CAPG:NM_001320732:exon10:c.A1004G:p.H335R,CAPG:NM_001320733:exon10:c.A1004G:p.H335R,CAPG:NM_001747:exon10:c.A1004G:p.H335R 0.59 0.75 0.4 0.5 0.66 0.51 0.5882 0.7336 0.3346 0.4937 0.6073 0.6342 0.5969 0.5290 0.67 0.73 0.64 0.58 0.7 rs6886 . . . . . . . . . . . . . 0.477 0.109 T 0.0 0.026 B 0.0 0.013 B 0.001 0.416 N 1.000 0.186 P -0.045 0.049 N 0.64 0.529 T 0.75 0.022 N 0.039 0.052 -1.007 0.278 T 0.000 0.000 T . . . 1.450 0.237 13.05 0.916 0.203 0.217 0.213 N c -0.738 -0.507 1.000 0.747 0.706 0.609 0 3.9 0.441 1.209 0.317 0.069 0.176 0.619 0.277 0.995 0.604 8.092 0.298 ADF-H/Gelsolin-like domain|Gelsolin-like domain ENSG00000244399.2|ENSG00000152292.12|ENSG00000168906.8|ENSG00000244399.2|ENSG00000207207.1|ENSG00000152292.12|ENSG00000042493.11|ENSG00000042493.11|ENSG00000042493.11|ENSG00000246575.2|ENSG00000042493.11|ENSG00000152291.9|ENSG00000042493.11|ENSG00000042493.11|ENSG00000042493.11 Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Esophagus_Mucosa|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.5757 0.7305 0.3562 0.5210 0.4849 0.6104 0.6460 0.5658 0.5282 0.6479 0.7341 0.4057 0.5397 0.4653 0.6216 0.6419 0.6076 hom 1404.42 48 2 85622059 . T C 1404.42 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=29.26;VQSLOD=8.9234;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1437,117,0 2 85625222 85625222 T G exonic CAPG synonymous SNV CAPG:NM_001320734:exon7:c.A720C:p.P240P,CAPG:NM_001256139:exon8:c.A813C:p.P271P,CAPG:NM_001256140:exon8:c.A768C:p.P256P,CAPG:NM_001320732:exon8:c.A813C:p.P271P,CAPG:NM_001320733:exon8:c.A813C:p.P271P,CAPG:NM_001747:exon8:c.A813C:p.P271P 0.25 0.42 0.15 0.12 0.23 0.25 0.2239 0.3790 0.0962 0.0956 0.2136 0.2275 0.2070 0.2732 0.29 0.37 0.24 0.25 0.28 rs6885 COSM3758392 1(breast);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2145 0.3771 0.1041 0.1436 0.0908 0.2102 0.2368 0.2011 0.2705 0.2682 0.3776 0.1169 0.1788 0.0797 0.2134 0.2507 0.2251 het 2379.25 207 2 85625222 . T G 2379.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.550;DP=207;DS;Dels=0.00;FS=2.517;HRun=3;HaplotypeScore=1.7791;MQ=59.65;MQ0=0;MQRankSum=-1.053;QD=11.49;ReadPosRankSum=-1.359;VQSLOD=6.0327;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:114,93:207:99:2409,0,3265 2 85769711 85769711 C G exonic MAT2A synonymous SNV MAT2A:NM_005911:exon7:c.C792G:p.R264R 0.49 0.72 0.39 0.39 0.49 0.37 0.4529 0.6829 0.3255 0.3880 0.4555 0.4629 0.4680 0.3889 0.53 0.68 0.46 0.51 0.51 rs1078004 COSM148883 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000418849.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4422 0.6847 0.3282 0.4047 0.3848 0.4547 0.4675 0.4423 0.3891 0.5167 0.6818 0.3807 0.3907 0.4 0.4562 0.4609 0.4632 hom 2100.11 66 2 85769711 . C G 2100.11 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;QD=31.82;VQSLOD=9.2108;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2133,163,0 2 85780131 85780131 G A exonic GGCX synonymous SNV GGCX:NM_001142269:exon8:c.C1047T:p.R349R,GGCX:NM_000821:exon9:c.C1218T:p.R406R 0.29 0.39 0.22 0.31 0.31 0.14 0.2661 0.3645 0.1917 0.3253 0.3094 0.2779 0.2863 0.1589 0.3 0.35 0.28 0.32 0.27 rs2592551 COSM148884 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Vitamin_K-Dependent_Clotting_Factors RCV000261373.1 MedGen CN239236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2612 0.3637 0.1875 0.2329 0.3224 0.3093 0.2802 0.2540 0.1626 0.3033 0.3639 0.2309 0.1987 0.3400 0.3096 0.2723 0.2510 hom 6998.49 218 2 85780131 . G A 6998.49 Mask AC=2;AF=1.00;AN=2;DP=218;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5099;MQ=59.79;MQ0=0;QD=32.10;VQSLOD=8.2684;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,215:218:99:6997,596,0 2 85780536 85780536 C T exonic GGCX nonsynonymous SNV GGCX:NM_001142269:exon7:c.G803A:p.R268Q,GGCX:NM_000821:exon8:c.G974A:p.R325Q 0.38 0.66 0.27 0.31 0.37 0.15 0.3198 0.6253 0.2246 0.3249 0.3304 0.3234 0.3348 0.1734 0.42 0.6 0.33 0.43 0.39 rs699664 COSM3758394 1(haematopoietic_and_lymphoid_tissue);9(soft_tissue);1(large_intestine);1(biliary_tract) Benign Vitamin_K-Dependent_Clotting_Factors RCV000357323.1 MedGen CN239236 . . . . . . 0.552 0.065 T 0.007 0.131 B 0.004 0.093 B 0.938 0.076 N 1 0.090 P -0.145 0.044 N -3.0 0.922 D -0.45 0.148 N 0.123 0.138 -0.957 0.397 T 0.000 0.000 T . . . -0.232 0.073 0.940 0.602 0.063 0.012 0.041 N c -1.438 -1.411 0.999 0.396 0.707 0.730 0 -0.842 0.102 -0.181 0.097 -0.259 0.088 0.000 0.063 0.010 0.111 1.934 0.031 HTTM ENSG00000118640.6|ENSG00000115486.7|ENSG00000115486.7|ENSG00000118640.6 Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.3094 0.6273 0.2241 0.2669 0.3222 0.3280 0.3266 0.3049 0.1770 0.4093 0.6301 0.2816 0.2318 0.3420 0.3303 0.3234 0.3136 hom 3314.63 99 2 85780536 . C T 3314.63 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.4105;MQ=58.58;MQ0=0;QD=33.48;VQSLOD=8.6879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3314,262,0 2 85781318 85781318 T G exonic GGCX synonymous SNV GGCX:NM_001142269:exon6:c.A666C:p.G222G,GGCX:NM_000821:exon7:c.A837C:p.G279G 1. 1. 1. 1. 0.99 0.99 0.9879 0.9979 0.9982 1 0.9855 0.9817 0.9857 0.9942 0.99 1. 0.98 0.98 0.99 rs1254896 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9887 0.9982 0.9968 0.9732 1 0.9852 0.9839 0.9889 0.9942 0.9899 0.9971 1 0.9868 1 0.9854 0.9856 0.9827 hom 7443.15 226 2 85781318 . T G 7443.15 Mask AC=2;AF=1.00;AN=2;DP=226;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.93;VQSLOD=8.6853;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7443,569,0 2 85806266 85806266 C T exonic VAMP8 synonymous SNV VAMP8:NM_003761:exon2:c.C138T:p.N46N 0.28 0.4 0.22 0.31 0.3 0.14 0.2990 0.3943 0.2221 0.3518 0.3537 0.3073 0.3152 0.1930 0.3 0.35 0.27 0.32 0.23 rs3731828 COSM148885 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2551 0.3613 0.1823 0.2345 0.3189 0.3038 0.2733 0.2505 0.1564 0.3044 0.3693 0.2267 0.1987 0.3418 0.3089 0.2717 0.2510 hom 543.04 19 2 85806266 . C T 543.04 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.58;VQSLOD=13.6814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:45.14:576,45,0 2 85808737 85808737 A G exonic VAMP8 synonymous SNV VAMP8:NM_003761:exon3:c.A201G:p.R67R 0.44 0.6 0.35 0.39 0.43 0.35 0.4126 0.5612 0.2962 0.3915 0.4351 0.4200 0.4240 0.3720 0.46 0.55 0.41 0.43 0.4 rs1009 COSM148886 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4041 0.5610 0.2959 0.3734 0.3856 0.4359 0.4231 0.3991 0.3733 0.4528 0.5603 0.3373 0.3624 0.4016 0.4356 0.4109 0.4080 hom 8406.07 250 2 85808737 . A G 8406.07 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6297;MQ=59.29;MQ0=0;QD=33.62;VQSLOD=9.3179;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8405,656,0 2 85818886 85818886 C T exonic VAMP5 synonymous SNV VAMP5:NM_006634:exon2:c.C42T:p.N14N 0.19 0.15 0.2 0.088 0.28 0.26 0.2337 0.1531 0.1276 0.0607 0.2462 0.2806 0.2351 0.2550 0.24 0.16 0.28 0.15 0.22 rs14976 COSM4419692 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2306 0.1573 0.1312 0.2167 0.0595 0.2437 0.2894 0.2371 0.2515 0.2178 0.1514 0.1647 0.2252 0.0494 0.2440 0.2704 0.2342 het 2280.77 174 2 85818886 . C T 2280.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.159;DP=174;Dels=0.00;FS=1.268;HRun=0;HaplotypeScore=3.7092;MQ=59.87;MQ0=0;MQRankSum=-0.249;QD=13.11;ReadPosRankSum=0.790;VQSLOD=6.0007;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,93:174:99:2311,0,2118 2 85824039 85824039 G A exonic RNF181 synonymous SNV RNF181:NM_016494:exon3:c.G312A:p.L104L 0.056 0.0061 0.1 0.001 0.15 0.046 0.1077 0.0232 0.0859 0.0003 0.1411 0.1488 0.1134 0.0527 0.11 0.027 0.15 0.065 0.15 rs1127974 COSM5619032 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1095 0.0246 0.0862 0.1148 0.0005 0.1412 0.1530 0.1167 0.0543 0.1011 0.0286 0.1029 0.1291 0.0012 0.1357 0.1452 0.1031 het 1743.10 142 2 85824039 . G A 1743.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.013;DP=142;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5026;MQ=59.68;MQ0=0;MQRankSum=0.266;QD=12.28;ReadPosRankSum=0.513;VQSLOD=5.0701;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,73:142:99:1773,0,2056 2 85826721 85826721 G A exonic TMEM150A synonymous SNV TMEM150A:NM_001031738:exon7:c.C501T:p.T167T 0.18 0.14 0.18 0.082 0.25 0.24 0.2121 0.1437 0.1164 0.0550 0.2146 0.2532 0.2098 0.2383 0.22 0.15 0.25 0.16 0.2 rs11891495 COSM3758395 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2091 0.1458 0.1180 0.2069 0.0535 0.2110 0.2612 0.2148 0.2365 0.1940 0.1409 0.1459 0.2219 0.0444 0.2073 0.2396 0.2016 het 1597.87 110 2 85826721 . G A 1597.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.991;DP=110;Dels=0.00;FS=2.709;HRun=0;HaplotypeScore=4.2945;MQ=59.24;MQ0=0;MQRankSum=-0.458;QD=14.53;ReadPosRankSum=2.182;VQSLOD=4.9705;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,58:110:99:1628,0,1322 2 85843431 85843431 C T exonic USP39 nonsynonymous SNV USP39:NM_001256725:exon1:c.C113T:p.P38L,USP39:NM_001256726:exon1:c.C113T:p.P38L,USP39:NM_006590:exon1:c.C113T:p.P38L 0.026 0.0045 0.037 . 0.058 0.042 0.0765 0.0183 0.0389 0.0002 0.1343 0.0992 0.0833 0.0595 0.04 0.008 0.056 0.043 0.016 rs114838872 COSM3758397 2(large_intestine) . . . . . . . . . . . 0.128 0.330 T 0.005 0.119 B 0.025 0.193 B 0.261 0.153 N 1 0.194 N 0.345 0.112 N 2.3 0.171 T -1.52 0.370 N 0.056 0.048 -1.008 0.276 T 0.004 0.012 T . . . 3.480 0.476 23.1 0.960 0.279 0.315 0.241 N c -0.749 -0.713 1.000 0.747 0.442 0.072 0 3.25 0.362 0.420 0.208 0.859 0.375 0.001 0.137 0.532 0.276 6.98 0.237 . ENSG00000115486.7 Skin_Sun_Exposed_Lower_leg 0.0503 0.0092 0.0259 0.0807 0.0003 0.0696 0.0675 0.0553 0.0390 0.0509 0.0113 0.0382 0.0795 0.0006 0.0702 0.0745 0.0585 het 149.11 19 2 85843431 . C T 149.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.445;DP=19;Dels=0.00;FS=4.359;HRun=1;HaplotypeScore=1.8100;MQ=59.01;MQ0=0;MQRankSum=0.950;QD=7.85;ReadPosRankSum=-1.940;VQSLOD=4.1574;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,8:19:99:179,0,324 2 85893741 85893741 G A exonic SFTPB nonsynonymous SNV SFTPB:NM_000542:exon5:c.C428T:p.T143I,SFTPB:NM_198843:exon5:c.C428T:p.T143I 0.52 0.8 0.42 0.26 0.54 0.46 0.5037 0.7482 0.3944 0.2647 0.5314 0.5257 0.5177 0.4505 0.6 0.74 0.52 0.55 0.54 rs1130866 COSM4133962;COSM4133963 1(thyroid) Benign|Benign not_specified|Pulmonary_Surfactant_Metabolism_Dysfunction\x2c_Recessive RCV000151850.2|RCV000263751.1 MedGen|MedGen CN169374|CN239432 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.149 0.180 N 0.151 0.352 P -2.555 0.000 N -0.69 0.727 T 2.66 0.002 N 0.038 0.310 -0.949 0.411 T 0.000 0.000 T . . . -1.006 0.032 0.015 0.105 0.001 0.002 0.012 N c -1.119 -0.882 0.993 0.329 0.554 0.283 0 3.33 0.371 1.977 0.400 0.075 0.182 0.723 0.286 0.848 0.354 6.990 0.238 Saposin B type domain|Saposin B type\x2c region 2|Saposin-like ENSG00000239305.2 Esophagus_Mucosa 0.4954 0.7543 0.4051 0.5224 0.2651 0.5277 0.5259 0.5044 0.4503 0.5744 0.7472 0.4036 0.5828 0.2559 0.5312 0.5329 0.5 hom 3920.09 116 2 85893741 . G A 3920.09 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=33.79;VQSLOD=9.8225;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3920,313,0 2 85924729 85924729 C T exonic GNLY nonsynonymous SNV GNLY:NM_006433:exon4:c.C356T:p.T119I,GNLY:NM_001302758:exon5:c.C437T:p.T146I,GNLY:NM_012483:exon5:c.C311T:p.T104I 0.34 0.063 0.4 0.59 0.4 0.36 0.3822 0.1057 0.4153 0.5812 0.3705 0.3982 0.3800 0.3692 0.29 0.11 0.38 0.29 0.32 rs11127 COSM5428112;COSM3758398 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.24 0.222 T 0.021 0.181 B 0.014 0.190 B 0.413 0.130 U 1 0.090 P 1.15 0.294 L -0.13 0.648 T -1.47 0.360 N 0.113 0.261 -0.915 0.462 T 0.000 0.000 T . . . 0.255 0.118 5.246 0.809 0.130 0.019 0.057 N c -1.303 -1.366 1.000 0.473 0.554 0.246 0 0.274 0.148 0.582 0.234 -0.187 0.104 0.001 0.137 0.002 0.062 3.451 0.070 Saposin B type domain|Saposin B type\x2c region 2|Saposin-like;Saposin B type domain|Saposin-like ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000115523.12|ENSG00000203363.2|ENSG00000168874.8|ENSG00000115523.12 Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Heart_Left_Ventricle|Lung|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3874 0.1016 0.4123 0.4591 0.5796 0.3759 0.3905 0.3986 0.3672 0.3172 0.1111 0.3962 0.4371 0.5928 0.3610 0.3872 0.3663 hom 2009.93 69 2 85924729 . C T 2009.93 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=59.67;MQ0=0;QD=29.13;VQSLOD=8.6738;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2043,165,0 2 86088333 86088333 T C exonic ST3GAL5 nonsynonymous SNV ST3GAL5:NM_001042437:exon3:c.A220G:p.M74V,ST3GAL5:NM_003896:exon3:c.A289G:p.M97V . . . . . . 8.246e-06 0 0 0 0.0002 0 0 0 . . . . . rs774010852 . . . . . . . . . . . . . 0.232 0.232 T 0.023 0.176 B 0.006 0.112 B 0.514 0.052 N 1 0.090 N 0.755 0.192 N 1.68 0.376 T -0.33 0.148 N 0.02 0.203 -0.976 0.360 T 0.052 0.222 T 0.004 0.090 T -2.368 0.004 0.001 0.682 0.083 0.052 0.109 N c -1.403 -1.455 1.000 0.747 0.520 0.209 0 -10.2 0.003 -0.322 0.080 0.080 0.190 0.000 0.063 0.993 0.574 10.818 0.456 . . . 4.067e-06 0 0 0 0 4.5e-05 0 0 0 . . . . . . . . het 1726.38 128 2 86088333 . T C 1726.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.570;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9943;MQ=59.67;MQ0=0;MQRankSum=-1.411;QD=13.49;ReadPosRankSum=0.362;VQSLOD=4.0850;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,65:128:99:1756,0,1614 2 86259443 86259443 C T exonic POLR1A synonymous SNV POLR1A:NM_015425:exon29:c.G4224A:p.G1408G 0.58 0.83 0.47 0.36 0.59 0.52 0.5874 0.8111 0.3995 0.3593 0.5804 0.6264 0.5767 0.5506 0.7 0.81 0.64 0.64 0.65 rs2276626 COSM148889 2(haematopoietic_and_lymphoid_tissue);1(stomach);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5787 0.8156 0.4167 0.6087 0.3616 0.5811 0.6330 0.5756 0.5518 0.6642 0.8099 0.4725 0.58 0.3865 0.5774 0.6450 0.6196 hom 7571 250 2 86259443 . C T 7571 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7235;MQ=59.09;MQ0=0;QD=30.28;VQSLOD=6.2097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7570,602,0 2 86315741 86315741 C T exonic POLR1A synonymous SNV POLR1A:NM_015425:exon6:c.G678A:p.T226T 0.66 0.31 0.82 0.66 0.84 0.82 0.7948 0.3716 0.8670 0.6568 0.8599 0.8491 0.8111 0.8212 0.71 0.42 0.85 0.56 0.84 rs2288120 COSM4133965 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8017 0.3687 0.8519 0.8776 0.6557 0.8536 0.8455 0.8218 0.8193 0.7042 0.3729 0.8305 0.8709 0.6498 0.8483 0.8505 0.8289 hom 5673.44 191 2 86315741 . C T 5673.44 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8857;MQ=58.86;MQ0=0;QD=29.70;VQSLOD=7.5590;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5672,442,0 2 86317012 86317012 C G exonic POLR1A nonsynonymous SNV POLR1A:NM_015425:exon4:c.G473C:p.R158P 0.0048 . 0.017 . 0.012 . 0.0069 0.0020 0.0048 0 0.0153 0.0097 0.0078 0.0002 0.0068 0.0019 0.009 0.011 0.0082 rs146078741 . . . . . . . . . . . . . 0.101 0.303 T 0.802 0.431 P 0.579 0.483 P 0.048 0.233 N 0.932 0.270 N 1.385 0.346 L 1.95 0.225 T -1.28 0.381 N 0.06 0.329 -1.100 0.041 T 0.022 0.094 T . . . 2.062 0.309 16.61 0.533 0.048 0.697 0.340 D c -0.333 -0.269 0.934 0.271 0.707 0.730 0 4.04 0.461 2.179 0.419 0.149 0.237 1.000 0.715 0.935 0.408 7.185 0.248 RNA polymerase Rpb1\x2c domain 1 . . 0.0070 0.0013 0.0050 0.0246 0 0.0126 0.0086 0.0075 0.0004 0.0057 0.0010 0.0024 0.0331 0 0.0106 0.0071 0.0112 het 793.60 76 2 86317012 . C G 793.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.014;DP=76;Dels=0.00;FS=4.208;HRun=1;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;MQRankSum=-0.175;QD=10.44;ReadPosRankSum=-0.165;VQSLOD=4.3866;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,30:76:99:824,0,1206 2 86317037 86317037 G C exonic POLR1A nonsynonymous SNV POLR1A:NM_015425:exon4:c.C448G:p.P150A 0.76 0.51 0.85 0.75 0.87 0.9 0.8496 0.5567 0.8871 0.7533 0.9110 0.8834 0.8678 0.8852 0.79 0.59 0.88 0.69 0.84 rs4832242 . . . . . . . . . . . . . 1.0 0.010 T 0.009 0.139 B 0.01 0.139 B 0.052 0.229 N 1 0.090 P 0.385 0.122 N 2.1 0.200 T 0.14 0.054 N 0.026 0.017 -0.994 0.316 T 0.000 0.000 T . . . -2.506 0.003 0.001 0.211 0.008 0.017 0.053 N c -1.768 -1.795 0.990 0.320 0.707 0.730 0 -5.44 0.024 -1.207 0.031 -0.366 0.067 0.001 0.137 0.843 0.352 11.261 0.481 RNA polymerase Rpb1\x2c domain 1 ENSG00000068654.11|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132313.10|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132305.16|ENSG00000132313.10|ENSG00000068615.12|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132313.10|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132313.10|ENSG00000132305.16|ENSG00000068654.11|ENSG00000132313.10|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132305.16|ENSG00000132313.10|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132313.10|ENSG00000273080.1|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000068654.11|ENSG00000132305.16|ENSG00000132313.10|ENSG00000068654.11|ENSG00000132313.10|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000132313.10|ENSG00000068654.11|ENSG00000273080.1|ENSG00000132313.10|ENSG00000068615.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood 0.8521 0.5506 0.8722 0.8981 0.7470 0.9087 0.8797 0.8672 0.8805 0.7858 0.5518 0.8675 0.8940 0.7299 0.9043 0.8871 0.8788 hom 1848.39 53 2 86317037 . G C 1848.39 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5352;MQ=58.60;MQ0=0;QD=34.88;VQSLOD=7.2158;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1881,147,0 2 86371883 86371883 T C exonic IMMT synonymous SNV IMMT:NM_001100169:exon15:c.A1782G:p.A594A,IMMT:NM_001100170:exon15:c.A1752G:p.A584A,IMMT:NM_006839:exon15:c.A1785G:p.A595A 0.26 0.058 0.37 0.15 0.48 0.35 0.4162 0.1058 0.3960 0.1408 0.4965 0.5034 0.4321 0.3733 0.38 0.11 0.5 0.24 . rs8244 COSM3758399 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4206 0.1016 0.3977 0.4727 0.1368 0.5021 0.5060 0.4423 0.3738 0.3801 0.1124 0.4053 0.46 0.1378 0.4863 0.5267 0.4949 hom 2785.49 90 2 86371883 . T C 2785.49 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.33;MQ0=0;QD=30.95;VQSLOD=8.5591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2818,238,0 2 86433240 86433240 C T exonic MRPL35 nonsynonymous SNV MRPL35:NM_016622:exon2:c.C55T:p.P19S,MRPL35:NM_145644:exon2:c.C55T:p.P19S 0.24 0.055 0.28 0.12 0.48 0.37 0.4000 0.1020 0.2678 0.1177 0.4926 0.5011 0.4150 0.3801 0.37 0.11 0.51 0.22 0.48 rs10901 COSM148890 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.103 0.310 T 0.192 0.278 B 0.033 0.210 B 0.000 0.843 N 0.038 0.383 P 1.67 0.430 L 2.24 0.181 T -2.13 0.500 N 0.233 0.285 -0.941 0.424 T 0.000 0.000 T . . . 2.990 0.420 22.2 0.998 0.866 0.550 0.295 D c -0.110 -0.026 1.000 0.747 0.732 0.924 0 4.74 0.596 2.478 0.446 0.929 0.438 0.318 0.253 0.937 0.410 10.645 0.446 . ENSG00000132305.16|ENSG00000273080.1|ENSG00000273080.1|ENSG00000132313.10|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000273080.1|ENSG00000273080.1|ENSG00000273080.1|ENSG00000068615.12|ENSG00000273080.1|ENSG00000273080.1|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000132305.16|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000068654.11|ENSG00000132313.10|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068615.12|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16|ENSG00000273080.1|ENSG00000068654.11|ENSG00000132305.16|ENSG00000273080.1|ENSG00000132305.16 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4000 0.0979 0.2759 0.4791 0.1131 0.4952 0.5033 0.4212 0.3740 0.3717 0.1088 0.3146 0.4667 0.1247 0.4799 0.5207 0.4805 hom 5227.57 180 2 86433240 . C T 5227.57 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8737;MQ=56.80;MQ0=0;QD=29.04;VQSLOD=5.2587;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:180:99:5227,421,0 2 86481835 86481835 C T exonic REEP1 synonymous SNV REEP1:NM_001164731:exon3:c.G204A:p.T68T,REEP1:NM_001164730:exon4:c.G306A:p.T102T,REEP1:NM_022912:exon4:c.G285A:p.T95T 0.43 0.18 0.6 0.6 0.46 0.43 0.4673 0.2245 0.6426 0.6133 0.5141 0.4551 0.4615 0.4518 0.37 0.23 0.44 0.4 0.4 rs2276625 COSM4785230;COSM3758400;COSM5765761 2(large_intestine) other|Benign not_specified|Spastic_Paraplegia\x2c_Dominant RCV000118136.4|RCV000386509.1 MedGen|MedGen CN169374|CN239430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4755 0.2189 0.6200 0.4539 0.6093 0.4969 0.4502 0.4745 0.4542 0.4005 0.2165 0.5788 0.4669 0.5841 0.5017 0.4482 0.4724 het 1058.13 122 2 86481835 . C T 1058.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=122;Dels=0.00;FS=2.493;HRun=0;HaplotypeScore=3.3563;MQ=59.69;MQ0=0;MQRankSum=-0.425;QD=8.67;ReadPosRankSum=-0.452;VQSLOD=5.6905;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,43:122:99:1088,0,1911 2 86683642 86683642 A G exonic KDM3A nonsynonymous SNV KDM3A:NM_001146688:exon6:c.A634G:p.I212V,KDM3A:NM_018433:exon6:c.A634G:p.I212V 0.8 0.93 0.76 0.94 0.76 0.57 0.7664 0.9039 0.7864 0.9563 0.7905 0.7613 0.7704 0.5773 0.8 0.9 0.75 0.78 0.69 rs2030259 . . . . . . . . . . . . . 0.862 0.027 T 0.0 0.026 B 0.0 0.013 B 0.012 0.292 N 1 0.090 P -0.975 0.012 N 0.48 0.560 T 0.31 0.040 N 0.009 0.030 -0.975 0.362 T 0.000 0.000 T . . . 0.069 0.100 3.279 0.798 0.125 0.066 0.125 N c -0.929 -0.633 0.251 0.187 0.732 0.924 0 3.51 0.391 2.187 0.420 0.076 0.183 1.000 0.715 0.995 0.604 7.664 0.274 . . . 0.7638 0.9058 0.7747 0.7273 0.9564 0.7889 0.7601 0.7599 0.5799 0.8229 0.9046 0.7762 0.7417 0.9515 0.8035 0.7741 0.7594 het 1024.88 87 2 86683642 . A G 1024.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.276;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=59.57;MQ0=0;MQRankSum=-1.951;QD=11.78;ReadPosRankSum=0.140;VQSLOD=5.6577;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,41:87:99:1055,0,1092 2 86691250 86691250 G A exonic KDM3A synonymous SNV KDM3A:NM_001146688:exon9:c.G918A:p.A306A,KDM3A:NM_018433:exon9:c.G918A:p.A306A 0.8 0.93 0.76 0.94 0.76 0.57 0.7663 0.9040 0.7856 0.9563 0.7915 0.7611 0.7709 0.5769 0.8 0.9 0.75 0.78 0.75 rs12714187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7642 0.9060 0.7751 0.7275 0.9567 0.7891 0.7604 0.7599 0.5819 0.8223 0.9043 0.7721 0.7417 0.9523 0.8016 0.7737 0.7643 het 1385.30 122 2 86691250 . G A 1385.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.094;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3866;MQ=59.03;MQ0=0;MQRankSum=0.732;QD=11.35;ReadPosRankSum=-0.855;VQSLOD=5.0254;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,56:122:99:1415,0,1691 2 86693826 86693826 T C exonic KDM3A nonsynonymous SNV KDM3A:NM_001146688:exon10:c.T1339C:p.S447P,KDM3A:NM_018433:exon10:c.T1339C:p.S447P 0.073 0.12 0.068 . 0.14 0.022 0.1139 0.1316 0.0658 0.0003 0.0850 0.1569 0.0938 0.0349 0.15 0.13 0.16 0.14 0.16 rs34605051 COSM3758401;COSM3758402 1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 0.001 0.067 B 0.0 0.013 B 0.001 0.415 N 1 0.090 P 1.04 0.263 L 0.2 0.601 T -1.45 0.356 N 0.047 0.189 -1.104 0.037 T 0.001 0.002 T . . . 1.600 0.254 13.85 0.978 0.357 0.378 0.256 N c -0.761 -0.730 0.753 0.234 0.707 0.730 0 1.78 0.238 1.627 0.364 1.061 0.807 0.514 0.268 0.324 0.241 5.551 0.163 . . . 0.1130 0.1354 0.0698 0.1748 0.0002 0.0925 0.1589 0.1322 0.0375 0.1367 0.1393 0.0776 0.14 0 0.0930 0.1644 0.1176 het 2634.18 231 2 86693826 . T C 2634.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.554;DP=231;Dels=0.00;FS=8.745;HRun=1;HaplotypeScore=4.8579;MQ=59.05;MQ0=0;MQRankSum=0.135;QD=11.40;ReadPosRankSum=1.202;VQSLOD=4.6100;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,96:231:99:2664,0,3280 2 86756381 86756381 T G exonic CHMP3;RNF103-CHMP3 synonymous SNV CHMP3:NM_001005753:exon2:c.A48C:p.A16A,CHMP3:NM_016079:exon3:c.A246C:p.A82A,RNF103-CHMP3:NM_001198954:exon5:c.A333C:p.A111A 0.14 0.37 0.088 . 0.14 0.022 0.1354 0.3519 0.0774 0.0003 0.0853 0.1587 0.1038 0.0372 0.22 0.34 0.16 0.23 0.16 rs11548929 COSM3758403 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1297 0.3552 0.0822 0.1788 0.0002 0.0923 0.1604 0.1434 0.0393 0.1982 0.3542 0.0873 0.1391 0.0006 0.0928 0.1657 0.1268 het 1923.72 159 2 86756381 . T G 1923.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.924;DP=159;Dels=0.00;FS=2.841;HRun=1;HaplotypeScore=1.9142;MQ=59.77;MQ0=0;MQRankSum=-1.034;QD=12.10;ReadPosRankSum=-1.045;VQSLOD=5.3384;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,74:159:99:1954,0,2233 2 86979093 86979093 G A exonic RMND5A synonymous SNV RMND5A:NM_022780:exon3:c.G360A:p.E120E 0.69 0.61 0.7 0.91 0.66 0.59 0.6660 0.6449 0.7291 0.9154 0.6935 0.6454 0.6597 0.5769 0.65 0.66 0.65 0.61 0.66 rs10186663 COSM5021306 1(breast);1(bone);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6700 0.6401 0.7245 0.6199 0.9158 0.6846 0.6478 0.6527 0.5773 0.6679 0.6479 0.7184 0.5960 0.8953 0.6920 0.6493 0.6475 hom 2118.48 66 2 86979093 . G A 2118.48 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.65;MQ0=0;QD=32.10;VQSLOD=9.5510;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:66:99:2151,166,0 2 87017575 87017575 C T exonic CD8A synonymous SNV CD8A:NM_001768:exon2:c.G279A:p.R93R,CD8A:NM_171827:exon2:c.G279A:p.R93R,CD8A:NM_001145873:exon5:c.G279A:p.R93R 0.036 0.07 0.029 . 0.063 0.0082 0.0597 0.0787 0.0293 0.0002 0.0558 0.0806 0.0543 0.0184 0.077 0.079 0.076 0.054 0.049 rs2229240 COSM4133968;COSM4909392 1(thyroid) Benign not_specified RCV000454381.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0572 0.0802 0.0345 0.0577 0.0001 0.0573 0.0803 0.0566 0.0188 0.0717 0.0827 0.0383 0.0364 0 0.0593 0.0787 0.0682 het 1546.43 117 2 87017575 . C T 1546.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.520;DP=117;Dels=0.00;FS=0.703;HRun=0;HaplotypeScore=4.3923;MQ=58.89;MQ0=0;MQRankSum=-0.060;QD=13.22;ReadPosRankSum=0.615;VQSLOD=5.6439;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,57:117:99:1576,0,1647 2 87017662 87017662 G T exonic CD8A synonymous SNV CD8A:NM_001768:exon2:c.C192A:p.A64A,CD8A:NM_171827:exon2:c.C192A:p.A64A,CD8A:NM_001145873:exon5:c.C192A:p.A64A 0.036 0.07 0.029 . 0.063 0.0082 0.0603 0.0831 0.0294 0.0002 0.0560 0.0819 0.0549 0.0184 0.076 0.079 0.075 0.033 0.025 rs2229239 COSM4909275;COSM4133969 2(thyroid) Benign not_specified RCV000455052.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0572 0.0813 0.0345 0.0578 0.0001 0.0574 0.0809 0.0563 0.0188 0.0717 0.0829 0.0394 0.0364 0 0.0596 0.0785 0.0686 het 1262.73 75 2 87017662 . G T 1262.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.950;DP=75;Dels=0.00;FS=4.851;HRun=0;HaplotypeScore=1.9106;MQ=59.38;MQ0=0;MQRankSum=-0.657;QD=16.84;ReadPosRankSum=1.567;VQSLOD=4.5178;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,43:75:99:1293,0,807 2 88396120 88396120 G A exonic SMYD1 synonymous SNV SMYD1:NM_001330364:exon5:c.G666A:p.E222E,SMYD1:NM_198274:exon6:c.G705A:p.E235E 0.31 0.42 0.26 0.16 0.36 0.32 0.3364 0.4147 0.2919 0.1442 0.3238 0.3589 0.3307 0.3344 0.38 0.41 0.36 0.46 0.19 rs2919882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3269 0.4168 0.2892 0.2980 0.1499 0.3321 0.3593 0.3602 0.3046 0.3531 0.4111 0.2983 0.3087 0.1508 0.3258 0.3515 0.3551 het 2850.12 250 2 88396120 . G A 2850.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.952;DP=250;DS;Dels=0.00;FS=4.385;HRun=1;HaplotypeScore=5.9542;MQ=59.28;MQ0=0;MQRankSum=-0.232;QD=11.40;ReadPosRankSum=-0.181;VQSLOD=4.6031;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:2880,0,3865 2 88396123 88396123 C G exonic SMYD1 synonymous SNV SMYD1:NM_001330364:exon5:c.C669G:p.L223L,SMYD1:NM_198274:exon6:c.C708G:p.L236L 0.31 0.42 0.26 0.16 0.36 0.32 0.3358 0.4146 0.2918 0.1441 0.3242 0.3585 0.3296 0.3308 0.38 0.41 0.36 0.46 0.19 rs2970912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3270 0.4168 0.2894 0.2983 0.1500 0.3321 0.3595 0.3605 0.3044 0.3532 0.4114 0.2983 0.3087 0.1506 0.3258 0.3516 0.3558 het 3027.80 248 2 88396123 . C G 3027.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.505;DP=248;DS;Dels=0.00;FS=2.891;HRun=0;HaplotypeScore=4.9626;MQ=59.27;MQ0=0;MQRankSum=-1.547;QD=12.21;ReadPosRankSum=0.247;VQSLOD=4.3867;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:139,109:248:99:3058,0,3755 2 88396174 88396174 T C exonic SMYD1 synonymous SNV SMYD1:NM_001330364:exon5:c.T720C:p.I240I,SMYD1:NM_198274:exon6:c.T759C:p.I253I 0.31 0.42 0.26 0.16 0.36 0.32 0.3315 0.4142 0.2918 0.1443 0.3246 0.3569 0.3271 0.3057 0.38 0.41 0.36 0.46 0.25 rs2919881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3266 0.4168 0.2882 0.2962 0.1499 0.3326 0.3590 0.3597 0.3041 0.3546 0.4131 0.2986 0.3113 0.1506 0.3266 0.3532 0.3558 het 2846.01 219 2 88396174 . T C 2846.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.581;DP=219;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6474;MQ=59.21;MQ0=0;MQRankSum=0.962;QD=13.00;ReadPosRankSum=-1.016;VQSLOD=5.2273;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,111:219:99:2876,0,3042 2 88424066 88424066 T C exonic FABP1 nonsynonymous SNV FABP1:NM_001443:exon3:c.A280G:p.T94A 0.22 0.14 0.35 0.21 0.35 0.14 0.2984 0.1692 0.3084 0.2100 0.4873 0.3409 0.3205 0.1702 0.27 0.17 0.32 0.28 0.26 rs2241883 COSM4001779 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.562 0.079 T 0.001 0.067 B 0.009 0.133 B 0.185 0.170 N 1 0.090 P 2.13 0.595 M 2.61 0.131 T -1.94 0.450 N 0.05 0.067 -0.930 0.442 T 0.000 0.000 T . . . 0.432 0.136 6.888 0.864 0.160 0.191 0.203 N c -0.602 -0.543 1.000 0.434 0.487 0.133 0 1.35 0.210 0.553 0.229 1.061 0.807 0.001 0.137 1.000 0.888 6.232 0.198 Calycin|Calycin-like ENSG00000163586.5|ENSG00000163586.5|ENSG00000163586.5 Brain_Frontal_Cortex_BA9|Muscle_Skeletal|Nerve_Tibial 0.3044 0.1664 0.3087 0.3370 0.2059 0.4917 0.3319 0.3126 0.1745 0.3091 0.1714 0.3170 0.3188 0.2092 0.4994 0.3526 0.3476 hom 5926.34 195 2 88424066 . T C 5926.34 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7356;MQ=59.66;MQ0=0;QD=30.39;VQSLOD=8.9066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:5926,442,0 2 88472791 88472791 G A exonic THNSL2 nonsynonymous SNV THNSL2:NM_018271:exon1:c.G122A:p.G41E,THNSL2:NM_001244676:exon2:c.G122A:p.G41E 0.87 0.91 0.78 0.86 0.88 0.87 0.8563 0.9136 0.7331 0.8435 0.8712 0.8655 0.8717 0.8694 0.88 0.92 0.86 0.88 0.84 rs4129190 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.030 0.254 N 1.000 0.182 P -1.495 0.005 N 1.74 0.263 T 1.72 0.010 N 0.074 0.398 -0.982 0.347 T 0.000 0.000 T . . . 0.155 0.109 4.197 0.203 0.007 0.280 0.232 N c -0.957 -0.679 0.388 0.200 0.615 0.372 0 4.19 0.485 2.311 0.431 0.188 0.248 1.000 0.715 0.115 0.194 5.462 0.158 Threonine synthase\x2c N-terminal|Tryptophan synthase beta subunit-like PLP-dependent enzyme ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000163586.5|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12|ENSG00000144115.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.8494 0.9160 0.7426 0.9069 0.8427 0.8689 0.8590 0.8676 0.8663 0.8759 0.9105 0.7667 0.9305 0.8434 0.8754 0.8645 0.8745 hom 3634.38 122 2 88472791 . G A 3634.38 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.62;MQ0=0;QD=29.79;VQSLOD=8.9141;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3634,280,0 2 88825965 88825965 G A exonic TEX37 nonsynonymous SNV TEX37:NM_152670:exon3:c.G70A:p.D24N 0.017 0.052 0.0058 . 0.008 0.002 0.0106 0.0464 0.0040 0 0.0018 0.0096 0.0055 0.0060 0.021 0.043 0.01 0.022 . rs35750657 . . . . . . . . . . . . . 0.078 0.339 T 0.35 0.319 B 0.045 0.231 B 0.063 0.220 N 1.000 0.199 N 1.74 0.453 L 0.37 0.577 T -4.89 0.814 D 0.009 0.001 -1.100 0.041 T 0.014 0.054 T . . . 3.567 0.486 23.1 0.992 0.548 0.448 0.272 N c -0.554 -0.544 0.000 0.067 0.554 0.246 0 1.09 0.194 1.546 0.356 1.048 0.713 0.960 0.334 0.517 0.274 4.253 0.101 . . . 0.0095 0.0478 0.0047 0.0315 0 0.0019 0.0076 0.0100 0.0064 0.0162 0.0457 0.0036 0.0167 0 0.0017 0.0055 0.0072 het 1637.68 136 2 88825965 . G A 1637.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.581;DP=136;Dels=0.00;FS=2.231;HRun=1;HaplotypeScore=1.6483;MQ=58.85;MQ0=0;MQRankSum=-0.210;QD=12.04;ReadPosRankSum=0.621;VQSLOD=6.1892;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,61:136:99:1668,0,1635 2 88874891 88874891 C A exonic EIF2AK3 nonsynonymous SNV EIF2AK3:NM_001313915:exon13:c.G1657T:p.A553S,EIF2AK3:NM_004836:exon13:c.G2110T:p.A704S 0.72 0.98 0.67 0.51 0.7 0.63 0.7021 0.9508 0.6730 0.5076 0.6537 0.7193 0.6821 0.6180 0.8 0.94 0.73 0.79 0.8 rs1805165 . . Likely benign|Benign not_specified|Wolcott-Rallison_dysplasia RCV000116968.2|RCV000374096.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0432217:226980:ORPHA1667:254066006 . . . . . . 1.0 0.010 T 0.003 0.102 B 0.003 0.080 B 0.000 0.843 N 1.000 0.198 P -0.09 0.047 N -0.43 0.710 T 1.11 0.013 N 0.136 0.157 -0.930 0.442 T 0.000 0.000 T . . . 1.963 0.297 15.98 0.876 0.168 0.076 0.135 N c -0.764 -0.464 1.000 0.443 0.722 0.854 0 4.91 0.638 2.726 0.467 0.242 0.267 1.000 0.715 0.998 0.697 9.150 0.359 Protein kinase domain ENSG00000234028.3|ENSG00000234028.3|ENSG00000234028.3|ENSG00000234028.3 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.6969 0.9529 0.6786 0.7771 0.5063 0.6522 0.7205 0.6924 0.6182 0.7688 0.9445 0.7088 0.7815 0.5186 0.6582 0.7264 0.7051 hom 5100.89 149 2 88874891 . C A 5100.89 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.709;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6780;MQ=59.69;MQ0=0;MQRankSum=1.709;QD=34.23;ReadPosRankSum=-0.257;VQSLOD=6.1238;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,147:149:99:5100,397,0 2 88879131 88879131 T C exonic EIF2AK3 synonymous SNV EIF2AK3:NM_001313915:exon11:c.A1338G:p.Q446Q,EIF2AK3:NM_004836:exon11:c.A1791G:p.Q597Q 0.26 0.2 0.36 0.31 0.31 0.16 0.2854 0.2199 0.3802 0.3068 0.3393 0.3024 0.2884 0.1595 0.27 0.22 0.3 0.22 0.35 rs1805164 COSM3746551;COSM3746552 1(haematopoietic_and_lymphoid_tissue);1(liver) Likely benign|Benign not_specified|Wolcott-Rallison_dysplasia RCV000116967.2|RCV000396340.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0432217:226980:ORPHA1667:254066006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2914 0.2187 0.3802 0.2824 0.3044 0.3452 0.2998 0.2891 0.1580 0.2903 0.2258 0.3735 0.2748 0.3240 0.3397 0.3066 0.3173 het 1079.50 78 2 88879131 . T C 1079.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.678;DP=78;Dels=0.00;FS=2.466;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=0.779;QD=13.84;ReadPosRankSum=-1.009;VQSLOD=5.6145;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,39:78:99:1109,0,1075 2 88895123 88895123 T C exonic EIF2AK3 nonsynonymous SNV EIF2AK3:NM_001313915:exon3:c.A44G:p.Q15R,EIF2AK3:NM_004836:exon3:c.A497G:p.Q166R 0.65 0.89 0.61 0.47 0.65 0.54 0.6379 0.8677 0.5613 0.4712 0.5962 0.6669 0.6222 0.5339 0.73 0.86 0.67 0.72 0.75 rs13045 COSM4001781;COSM4001780 1(haematopoietic_and_lymphoid_tissue);1(pancreas) other|Benign not_specified|Wolcott-Rallison_dysplasia RCV000116970.3|RCV000283479.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0432217:226980:ORPHA1667:254066006 . . . . . . 0.924 0.025 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.208 P -2.045 0.002 N 1.63 0.280 T 0.81 0.022 N 0.117 0.129 -0.950 0.410 T 0.000 0.000 T . . . 1.089 0.199 11.15 0.821 0.136 0.259 0.226 N c -0.678 -0.302 1.000 0.747 0.706 0.609 0 6.16 0.993 5.571 0.669 0.069 0.176 1.000 0.715 0.989 0.536 15.877 0.789 Quinoprotein alcohol dehydrogenase-like domain|Quinoprotein alcohol dehydrogenase-like superfamily;Quinoprotein alcohol dehydrogenase-like superfamily ENSG00000234028.3|ENSG00000234028.3|ENSG00000153574.8|ENSG00000234028.3 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.6310 0.8708 0.5757 0.7275 0.4702 0.5915 0.6661 0.6328 0.5319 0.7040 0.8633 0.6091 0.7285 0.4832 0.6032 0.6675 0.6391 hom 1930.79 67 2 88895123 . T C 1930.79 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.53;MQ0=0;QD=28.82;VQSLOD=7.7957;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1964,159,0 2 95847041 95847043 GCG - exonic ZNF2 nonframeshift deletion ZNF2:NM_001291604:exon3:c.228_230del:p.R80del,ZNF2:NM_001017396:exon4:c.342_344del:p.R118del,ZNF2:NM_001282398:exon4:c.354_356del:p.R122del,ZNF2:NM_001291605:exon5:c.507_509del:p.R173del,ZNF2:NM_021088:exon5:c.468_470del:p.R160del 1. 1. 1. 1. 0.99 0.99 0.9918 0.9985 0.9959 1 0.9940 0.9884 0.9956 0.9933 0.99 1. 0.99 0.022 . rs397802135 COSM5713064 5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9918 0.9984 0.9957 0.981 1 0.9948 0.9885 0.9900 0.9933 0.9921 0.9983 0.9976 0.9834 0.9994 0.9943 0.9872 0.9898 hom 4455.29 112 2 95847040 . TGCG T 4455.29 Mask AC=2;AF=1.00;AN=2;DP=112;FS=0.000;HRun=0;HaplotypeScore=491.0651;MQ=54.48;MQ0=0;QD=39.78;set=variant2 GT:AD:DP:GQ:PL 1/1:13,99:112:99:4455,295,0 2 95947085 95947085 A G exonic PROM2 nonsynonymous SNV PROM2:NM_001165977:exon12:c.A1523G:p.Q508R,PROM2:NM_001165978:exon12:c.A1523G:p.Q508R,PROM2:NM_001321070:exon12:c.A485G:p.Q162R,PROM2:NM_144707:exon12:c.A1523G:p.Q508R 0.8 0.91 0.87 0.69 0.77 0.75 0.7749 0.8825 0.8791 0.6647 0.7641 0.7702 0.7715 0.7153 0.8 0.88 0.76 0.71 0.73 rs12992066 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.909 0.074 N 1 0.090 P -0.82 0.015 N 0.9 0.453 T 0.22 0.047 N 0.046 0.026 -0.984 0.340 T 0.000 0.000 T . . . -3.061 0.001 0.001 0.079 0.001 0.027 0.072 N c -2.035 -1.947 0.027 0.138 0.554 0.246 0 -3.94 0.038 0.303 0.188 -2.510 0.003 0.998 0.411 0.788 0.332 14.375 0.663 . ENSG00000155066.11|ENSG00000155066.11|ENSG00000223564.1|ENSG00000155066.11|ENSG00000155066.11|ENSG00000115041.8|ENSG00000155066.11|ENSG00000223564.1|ENSG00000115041.8|ENSG00000155066.11 Adipose_Visceral_Omentum|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Cells_Transformed_fibroblasts|Nerve_Tibial|Pancreas|Thyroid|Thyroid 0.7747 0.8830 0.8742 0.7961 0.6613 0.7618 0.7645 0.7841 0.7129 0.7940 0.8780 0.8648 0.8013 0.6410 0.7700 0.7647 0.7674 hom 5154.08 154 2 95947085 . A G 5154.08 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.31;MQ0=0;QD=33.47;VQSLOD=9.6368;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:5153,406,0 2 96780716 96780716 T G exonic ADRA2B synonymous SNV ADRA2B:NM_000682:exon2:c.A1173C:p.G391G 0.71 0.77 0.66 0.6 0.68 0.79 0.6785 0.7454 0.6575 0.5587 0.5348 0.6760 0.7225 0.7774 0.7 0.75 0.68 0.67 . rs2229169 COSM5619262;COSM5619263 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6717 0.7429 0.6569 0.7994 0.5572 0.5383 0.6692 0.6973 0.7758 0.6583 0.7483 0.6866 0.7848 0.5273 0.5289 0.6505 0.5918 het 444.57 33 2 96780716 . T G 444.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.831;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=58.59;MQ0=0;MQRankSum=0.000;QD=13.47;ReadPosRankSum=-1.133;VQSLOD=5.9451;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:475,0,417 2 96781853 96781853 T C exonic ADRA2B synonymous SNV ADRA2B:NM_000682:exon1:c.A36G:p.T12T 0.096 0.085 0.13 0.2 0.04 0.037 0.0729 0.0759 0.2058 0.2005 0.0361 0.0437 0.0723 0.0386 0.048 0.059 0.042 0.065 . rs9333567 COSM3766602;COSM3766601 2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0689 0.0667 0.1724 0.0557 0.1807 0.0285 0.0388 0.0613 0.0351 0.0543 0.0724 0.1364 0.0567 0.1665 0.0272 0.0341 0.0432 het 284.14 13 2 96781853 . T C 284.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.437;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-1.268;QD=21.86;ReadPosRankSum=-0.592;VQSLOD=6.5444;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,10:13:43.92:314,0,44 2 96789787 96789787 T C exonic ASTL synonymous SNV ASTL:NM_001002036:exon9:c.A1098G:p.L366L 0.33 0.28 0.38 0.43 0.35 0.23 0.3559 0.2969 0.3604 0.4644 0.4855 0.3638 0.3133 0.2518 0.34 0.3 0.36 0.34 0.31 rs893173 COSM443381 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3594 0.2950 0.3621 0.2551 0.4632 0.4806 0.3672 0.3368 0.2523 0.3726 0.2940 0.3333 0.2649 0.4864 0.4908 0.3786 0.4355 hom 3847.32 115 2 96789787 . T C 3847.32 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.28;MQ0=0;QD=33.17;VQSLOD=9.7452;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3847,295,0 2 96795608 96795608 T G exonic ASTL nonsynonymous SNV ASTL:NM_001002036:exon8:c.A829C:p.K277Q 0.38 0.28 0.47 0.62 0.36 0.25 0.3932 0.2945 0.5229 0.6325 0.4942 0.3668 0.3403 0.2907 0.34 0.29 0.36 0.36 0.31 rs1657502 COSM3758413 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.079 0.337 T 0.026 0.181 B 0.025 0.193 B 0.257 0.154 N 1 0.090 P 0.52 0.136 N -0.1 0.643 T -1.63 0.391 N 0.049 0.030 -0.907 0.473 T 0.000 0.000 T . . . 1.154 0.205 11.51 0.939 0.233 0.261 0.227 N c -0.723 -0.744 0.093 0.162 0.660 0.495 0 -2.33 0.063 0.866 0.274 0.964 0.580 0.637 0.278 0.080 0.181 12.28 0.539 Metallopeptidase\x2c catalytic domain|Peptidase M12A\x2c astacin ENSG00000232931.1|ENSG00000186281.8|ENSG00000231584.4|ENSG00000222040.3|ENSG00000186281.8|ENSG00000231584.4|ENSG00000144021.2|ENSG00000231584.4|ENSG00000144021.2|ENSG00000114988.7|ENSG00000135956.4|ENSG00000232931.1|ENSG00000222040.3|ENSG00000186281.8|ENSG00000222040.3|ENSG00000188886.3|ENSG00000186281.8|ENSG00000222040.3|ENSG00000186281.8|ENSG00000222040.3|ENSG00000144021.2|ENSG00000235584.2|ENSG00000198885.5|ENSG00000135956.4|ENSG00000231584.4|ENSG00000186281.8|ENSG00000231584.4|ENSG00000222040.3|ENSG00000144021.2|ENSG00000186281.8|ENSG00000174501.10|ENSG00000222040.3|ENSG00000144021.2|ENSG00000186281.8|ENSG00000186281.8|ENSG00000231584.4|ENSG00000144021.2|ENSG00000231584.4|ENSG00000232931.1|ENSG00000144021.2|ENSG00000186281.8|ENSG00000222040.3|ENSG00000231584.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3933 0.2914 0.5114 0.2393 0.6264 0.4897 0.3678 0.3572 0.2588 0.3856 0.2901 0.4415 0.2616 0.6428 0.4989 0.3821 0.4489 hom 2677.57 85 2 96795608 . T G 2677.57 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7305;MQ=58.27;MQ0=0;QD=31.50;VQSLOD=8.6602;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2711,211,0 2 96795714 96795714 G A exonic ASTL synonymous SNV ASTL:NM_001002036:exon8:c.C723T:p.L241L 0.38 0.28 0.47 0.6 0.36 0.25 0.3848 0.2919 0.5203 0.6171 0.4979 0.3644 0.3330 0.2633 0.34 0.3 0.36 0.37 0.32 rs749459 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3924 0.2924 0.5106 0.2370 0.6128 0.4940 0.3685 0.3593 0.2577 0.3853 0.2894 0.4427 0.2550 0.6340 0.5020 0.3821 0.4507 hom 2175.09 65 2 96795714 . G A 2175.09 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=33.46;VQSLOD=9.7373;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2208,178,0 2 96795857 96795857 T C exonic ASTL nonsynonymous SNV ASTL:NM_001002036:exon7:c.A665G:p.Q222R 0.93 0.99 0.87 1. 0.77 0.97 0.8596 0.9683 0.9003 0.9994 0.8465 0.7970 0.8278 0.9494 0.85 0.96 0.8 0.91 0.8 rs749458 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.770 0.095 N 1 0.090 P -0.46 0.027 N 0.02 0.623 T 0.06 0.063 N 0.019 0.004 -0.952 0.406 T 0.000 0.000 T . . . -0.441 0.059 0.308 0.493 0.041 0.037 0.089 N c -1.243 -1.142 0.028 0.138 0.660 0.495 0 -1.91 0.072 -0.564 0.060 -0.417 0.060 0.000 0.063 0.828 0.346 1.337 0.020 Metallopeptidase\x2c catalytic domain|Peptidase M12A\x2c astacin|Peptidase\x2c metallopeptidase ENSG00000232931.1|ENSG00000198885.5|ENSG00000174501.10|ENSG00000237510.3|ENSG00000198885.5|ENSG00000198885.5|ENSG00000237510.3|ENSG00000198885.5|ENSG00000198885.5|ENSG00000174501.10|ENSG00000237510.3|ENSG00000198885.5|ENSG00000198885.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Nerve_Tibial|Testis|Thyroid|Whole_Blood 0.8585 0.9704 0.8915 0.7477 0.9997 0.8487 0.7999 0.8279 0.9483 0.8681 0.9624 0.8660 0.7450 0.9994 0.8503 0.8079 0.8347 hom 4233.57 152 2 96795857 . T C 4233.57 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=59.33;MQ0=0;QD=27.85;VQSLOD=7.9733;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:4233,340,0 2 96798305 96798305 C T exonic ASTL nonsynonymous SNV ASTL:NM_001002036:exon6:c.G611A:p.R204H 0.029 0.041 0.03 0.012 0.034 0.024 0.0300 0.0259 0.0161 0.0126 0.0178 0.0370 0.0332 0.0283 0.037 0.027 0.042 0.011 0.016 rs41320144 COSM2150335 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . 0.081 0.334 T 0.019 0.167 B 0.013 0.154 B 0.233 0.159 N 1 0.090 N 2.09 0.581 M -0.06 0.636 T -2.78 0.589 D 0.075 0.065 -1.038 0.179 T 0.042 0.181 T . . . 2.397 0.349 18.80 0.992 0.564 0.066 0.124 N c -0.842 -0.807 0.059 0.152 0.660 0.495 0 0.941 0.186 -0.365 0.076 -0.423 0.059 0.000 0.063 0.323 0.241 7.254 0.252 Metallopeptidase\x2c catalytic domain|Peptidase M12A\x2c astacin|Peptidase\x2c metallopeptidase ENSG00000204685.5 Skin_Sun_Exposed_Lower_leg 0.0293 0.0249 0.0188 0.0544 0.0122 0.0185 0.0361 0.0337 0.0274 0.0265 0.0284 0.0251 0.0497 0.0080 0.0186 0.0290 0.0246 het 1142.57 82 2 96798305 . C T 1142.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.888;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=60.00;MQ0=0;MQRankSum=0.441;QD=13.93;ReadPosRankSum=0.246;VQSLOD=6.1312;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,42:82:99:1173,0,1071 2 96944553 96944553 G A exonic SNRNP200 synonymous SNV SNRNP200:NM_014014:exon37:c.C5317T:p.L1773L 0.25 0.076 0.32 0.43 0.31 0.17 0.3097 0.1121 0.3341 0.4568 0.4711 0.3305 0.2874 0.1931 0.25 0.11 0.32 0.3 0.29 rs772175 COSM3758414 1(thyroid);1(large_intestine) Likely benign Retinitis_Pigmentosa\x2c_Dominant RCV000344985.1 MedGen CN239354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3174 0.1117 0.3338 0.1953 0.4565 0.4664 0.3346 0.2980 0.1960 0.3055 0.1139 0.2947 0.2086 0.4844 0.4768 0.3537 0.4092 het 952.83 96 2 96944553 . G A 952.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.882;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2200;MQ=59.13;MQ0=0;MQRankSum=0.860;QD=9.93;ReadPosRankSum=-1.007;VQSLOD=5.3513;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,35:96:99:983,0,1808 2 96993757 96993757 C T exonic ITPRIPL1 nonsynonymous SNV ITPRIPL1:NM_178495:exon1:c.C1412T:p.T471M,ITPRIPL1:NM_001163523:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001163524:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001324490:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001008949:exon3:c.C1388T:p.T463M 0.36 0.24 0.31 0.23 0.32 0.73 0.3510 0.2405 0.3186 0.2018 0.2242 0.3210 0.3598 0.6927 0.31 0.25 0.34 0.25 0.34 rs2279105 COSM4001791;COSM4001790 4(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.095 0.319 T 0.998 0.715 D 0.534 0.511 P 0.045 0.236 N 1 0.090 P 1.61 0.413 L 3.11 0.082 T -1.25 0.316 N 0.206 0.458 -0.727 0.591 T 0.000 0.000 T . . . 3.855 0.520 23.4 0.997 0.834 0.340 0.247 N c 0.098 0.106 1.000 0.517 0.732 0.924 0 5.5 0.813 2.627 0.459 0.935 0.490 0.118 0.229 0.990 0.544 18.332 0.902 Mab-21 domain ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000186281.8|ENSG00000237510.3|ENSG00000144021.2|ENSG00000230747.1|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000230747.1|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000229689.2|ENSG00000237510.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3473 0.2360 0.3150 0.4199 0.1939 0.2324 0.3181 0.3539 0.6884 0.2766 0.2449 0.3278 0.4139 0.1741 0.2256 0.3123 0.2791 het 2607.43 196 2 96993757 . C T 2607.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.279;DP=196;Dels=0.00;FS=4.389;HRun=0;HaplotypeScore=9.7253;MQ=59.13;MQ0=0;MQRankSum=-0.438;QD=13.30;ReadPosRankSum=0.019;VQSLOD=4.2769;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,96:196:99:2637,0,2425 2 96993884 96993884 A G exonic ITPRIPL1 synonymous SNV ITPRIPL1:NM_178495:exon1:c.A1539G:p.P513P,ITPRIPL1:NM_001163523:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001163524:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001324490:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001008949:exon3:c.A1515G:p.P505P 0.38 0.28 0.32 0.28 0.32 0.73 0.3570 0.2739 0.3195 0.2414 0.2239 0.3213 0.3664 0.6932 0.32 0.28 0.34 0.28 0.33 rs1048675 COSM148904;COSM4419107 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3525 0.2689 0.3161 0.4199 0.2348 0.2322 0.3183 0.3563 0.6890 0.2879 0.2793 0.3261 0.4139 0.2053 0.2269 0.3117 0.2825 het 1353.97 108 2 96993884 . A G 1353.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.472;DP=108;Dels=0.00;FS=0.729;HRun=0;HaplotypeScore=4.2616;MQ=58.99;MQ0=0;MQRankSum=1.568;QD=12.54;ReadPosRankSum=-1.346;VQSLOD=4.8608;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,58:108:99:1384,0,1432 2 97030247 97030247 T C exonic NCAPH nonsynonymous SNV NCAPH:NM_001281712:exon12:c.T1208C:p.V403A,NCAPH:NM_001281710:exon13:c.T1583C:p.V528A,NCAPH:NM_001281711:exon13:c.T1544C:p.V515A,NCAPH:NM_015341:exon13:c.T1616C:p.V539A 0.38 0.28 0.32 0.28 0.32 0.73 0.3577 0.2748 0.3209 0.2421 0.2245 0.3215 0.3689 0.6951 0.32 0.28 0.34 0.3 0.33 rs2305935 COSM148906 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.939 0.036 T 0.0 0.026 B 0.0 0.013 B 0.022 0.266 N 1 0.090 P -2.175 0.001 N 1.12 0.387 T 0.92 0.016 N 0.01 0.199 -0.967 0.378 T 0.000 0.000 T . . . -0.984 0.033 0.017 0.168 0.005 0.001 0.005 N c -1.251 -1.112 0.606 0.218 0.707 0.730 0 4.16 0.480 1.017 0.294 -0.900 0.026 0.088 0.223 0.020 0.134 9.591 0.385 . ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000186281.8|ENSG00000237510.3|ENSG00000144021.2|ENSG00000230747.1|ENSG00000237510.3|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000230747.1|ENSG00000237510.3|ENSG00000144021.2|ENSG00000237510.3|ENSG00000144021.2|ENSG00000229689.2|ENSG00000237510.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3529 0.2708 0.3169 0.4180 0.2350 0.2321 0.3182 0.3574 0.6910 0.2887 0.2816 0.3270 0.4106 0.2033 0.2259 0.3122 0.2872 het 1254.50 113 2 97030247 . T C 1254.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.315;DP=113;Dels=0.00;FS=1.587;HRun=0;HaplotypeScore=5.7826;MQ=59.02;MQ0=0;MQRankSum=-0.216;QD=11.10;ReadPosRankSum=0.672;VQSLOD=5.1697;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,51:113:99:1284,0,1460 2 97166204 97166204 A G exonic NEURL3 synonymous SNV NEURL3:NM_001285485:exon2:c.T486C:p.Y162Y,NEURL3:NM_001285486:exon3:c.T12C:p.Y4Y 0.73 0.6 0.77 0.83 0.61 0.89 0.7025 0.6192 0.8321 0.8390 0.6574 0.6277 0.6723 0.8847 0.63 0.61 0.63 0.62 . rs3731938 COSN6685611 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7034 0.6021 0.8196 0.5949 0.8374 0.6514 0.6247 0.6642 0.8816 0.6423 0.6026 0.7632 0.5993 0.8426 0.6465 0.6337 0.6883 het 489.05 27 2 97166204 . A G 489.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.186;DP=27;Dels=0.00;FS=10.462;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=0.929;QD=18.11;ReadPosRankSum=0.292;VQSLOD=2.9909;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,19:27:99:519,0,181 2 97526963 97526963 C T exonic SEMA4C synonymous SNV SEMA4C:NM_017789:exon15:c.G1902A:p.A634A 0.005 . 0.0072 . 0.019 0.001 0.0196 0.0053 0.0068 0.0001 0.0281 0.0305 0.0190 0.0014 0.018 0.0039 0.025 0.022 0.0082 rs71427097 COSM6049665 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0194 0.0051 0.0079 0.0221 0.0001 0.0301 0.0309 0.0191 0.0014 0.0188 0.0047 0.0060 0.0099 0 0.0252 0.0285 0.0183 het 904.94 67 2 97526963 . C T 904.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.019;DP=67;Dels=0.00;FS=4.963;HRun=0;HaplotypeScore=0.8941;MQ=58.75;MQ0=0;MQRankSum=0.948;QD=13.51;ReadPosRankSum=1.613;VQSLOD=4.6105;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:935,0,815 2 97559759 97559759 G A exonic FAM178B synonymous SNV FAM178B:NM_001172667:exon2:c.C57T:p.L19L,FAM178B:NM_001122646:exon14:c.C1680T:p.L560L 0.43 0.24 0.44 0.68 0.15 0.71 0.3427 0.2680 0.5751 0.6457 0.1779 0.1982 0.3229 0.6810 0.21 0.25 0.18 0.43 0.11 rs11677797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3292 0.2552 0.5342 0.2156 0.6361 0.1643 0.1824 0.2700 0.6623 0.2272 0.2552 0.4690 0.2119 0.6115 0.1630 0.1723 0.2122 het 326.31 39 2 97559759 . G A 326.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.425;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;MQRankSum=-1.801;QD=8.37;ReadPosRankSum=-0.483;VQSLOD=5.3142;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,14:39:99:356,0,719 2 98164184 98164184 C G exonic ANKRD36B nonsynonymous SNV ANKRD36B:NM_025190:exon21:c.G1488C:p.E496D 0.29 0.1 0.42 0.18 0.64 0.19 0.5100 0.2335 0.4574 0.3042 0.7463 0.6502 0.5361 0.2339 0.49 0.19 0.63 0.17 . rs13001728 COSN15302854;COSN20281940;COSN19622923 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.043 0.202 B 0.007 0.121 B . . . . . . 0.55 0.145 N . . . . . . 0.074 0.064 . . . . . . . . . -0.525 0.054 0.191 0.197 0.007 0.004 0.020 N n -0.516 -0.221 0.000 0.066 0.106 0.022 0 -1.38 0.085 -1.180 0.032 -0.424 0.059 0.001 0.137 0.000 0.016 2.573 0.045 . ENSG00000135976.12|ENSG00000196912.8|ENSG00000196912.8|ENSG00000196912.8|ENSG00000196912.8|ENSG00000115085.9|ENSG00000115073.6|ENSG00000196912.8|ENSG00000115085.9|ENSG00000235833.1|ENSG00000196912.8|ENSG00000115085.9|ENSG00000235833.1|ENSG00000196912.8|ENSG00000135976.12|ENSG00000135976.12|ENSG00000196912.8|ENSG00000196912.8|ENSG00000228486.5|ENSG00000196912.8|ENSG00000135976.12|ENSG00000196912.8|ENSG00000228486.5|ENSG00000144199.7|ENSG00000115073.6|ENSG00000135976.12|ENSG00000196912.8|ENSG00000196912.8|ENSG00000144199.7|ENSG00000135976.12|ENSG00000144199.7|ENSG00000135976.12|ENSG00000196912.8|ENSG00000144199.7|ENSG00000196912.8|ENSG00000228486.5|ENSG00000230606.6|ENSG00000115085.9|ENSG00000135976.12|ENSG00000196912.8|ENSG00000235833.1|ENSG00000135940.2|ENSG00000196912.8|ENSG00000196912.8|ENSG00000228486.5|ENSG00000135976.12|ENSG00000196912.8|ENSG00000230606.6|ENSG00000196912.8|ENSG00000196912.8|ENSG00000115085.9|ENSG00000135976.12|ENSG00000196912.8|ENSG00000235833.1|ENSG00000196912.8|ENSG00000196912.8|ENSG00000115085.9|ENSG00000135976.12|ENSG00000168754.9|ENSG00000235833.1|ENSG00000135976.12|ENSG00000196912.8|ENSG00000196912.8|ENSG00000196912.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood 0.4757 0.1695 0.3492 0.4563 0.2022 0.7327 0.6417 0.5264 0.2116 0.5128 0.1914 0.3864 0.4305 0.2170 0.7377 0.6791 0.6327 hom 367.76 15 2 98164184 . C G 367.76 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=49.95;MQ0=0;QD=24.52;VQSLOD=4.1972;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:30.08:401,30,0 2 98274527 98274527 G C exonic ACTR1B synonymous SNV ACTR1B:NM_005735:exon8:c.C804G:p.V268V 0.53 0.71 0.54 0.37 0.74 0.24 0.6071 0.6943 0.4011 0.3881 0.7691 0.7276 0.6228 0.2581 0.71 0.69 0.72 0.63 0.71 rs1042705 COSM3720702 4(haematopoietic_and_lymphoid_tissue);2(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6038 0.6887 0.4262 0.6329 0.3890 0.7701 0.7329 0.6621 0.2674 0.7040 0.6859 0.4856 0.6424 0.3728 0.7700 0.7468 0.7249 hom 4866.66 145 2 98274527 . G C 4866.66 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.1222;MQ=59.19;MQ0=0;QD=33.56;VQSLOD=9.0558;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:145:99:4866,382,0 2 98354511 98354511 G A exonic ZAP70 synonymous SNV ZAP70:NM_207519:exon5:c.G756A:p.E252E,ZAP70:NM_001079:exon13:c.G1677A:p.E559E 0.15 0.087 0.21 0.011 0.36 0.11 0.3012 0.1427 0.2156 0.0074 0.5710 0.3847 0.3026 0.1455 0.27 0.13 0.34 0.098 0.38 rs3192177 COSM4134221 1(thyroid) Benign|Benign not_specified|Severe_Combined_Immune_Deficiency RCV000126355.3|RCV000356778.1 MedGen|MedGen CN169374|CN239264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2753 0.1199 0.1884 0.2017 0.0065 0.5279 0.3593 0.2808 0.1377 0.2964 0.1258 0.2266 0.1623 0.0049 0.5158 0.3765 0.3928 het 683.70 39 2 98354511 . G A 683.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.223;DP=39;Dels=0.00;FS=2.974;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.938;QD=17.53;ReadPosRankSum=1.773;VQSLOD=5.4736;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,26:39:99:714,0,341 2 98409046 98409046 G A exonic TMEM131 nonsynonymous SNV TMEM131:NM_015348:exon31:c.C3947T:p.P1316L 0.15 0.052 0.2 0.012 0.39 0.12 0.2963 0.1001 0.1786 0.0085 0.5775 0.3916 0.3009 0.1423 0.28 0.097 0.37 0.054 . rs12995673 COSM3766607;COSM3766606 1(breast);1(bone);1(pancreas);1(liver);1(thyroid) . . . . . . . . . . . 0.022 0.486 D 0.004 0.112 B 0.001 0.040 B 0.464 0.123 N 0.313 0.333 P 1.61 0.413 L 2.17 0.190 T -1.2 0.305 N 0.063 0.048 -0.923 0.452 T 0.000 0.000 T . . . 2.185 0.324 17.41 0.971 0.320 0.838 0.426 D c -0.275 -0.094 0.378 0.199 0.706 0.609 0 3.94 0.446 2.500 0.448 1.048 0.713 0.996 0.391 0.747 0.321 8.894 0.344 . ENSG00000196912.8|ENSG00000115073.6|ENSG00000196912.8|ENSG00000115073.6|ENSG00000228486.5|ENSG00000196912.8|ENSG00000235833.1|ENSG00000196912.8|ENSG00000075568.12 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2941 0.0927 0.1908 0.2137 0.0087 0.5715 0.3905 0.2984 0.1453 0.3126 0.1009 0.2243 0.1689 0.0074 0.5699 0.4101 0.4117 het 304.63 21 2 98409046 . G A 304.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.091;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;MQRankSum=-0.533;QD=14.51;ReadPosRankSum=2.452;VQSLOD=5.1520;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,12:21:99:335,0,234 2 98809432 98809432 T C exonic VWA3B nonsynonymous SNV VWA3B:NM_001345864:exon5:c.T509C:p.I170T,VWA3B:NM_144992:exon11:c.T1538C:p.I513T 0.017 . 0.011 . 0.067 0.0092 0.0444 0.0105 0.0137 0 0.1071 0.0606 0.0523 0.0182 0.044 0.015 0.057 0.011 0.041 rs74735968 . . . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.985 0.971 D 0.000 0.537 D 0.581 0.311 N 3.495 0.929 M 1.64 0.278 T -4.12 0.750 D 0.442 0.593 -0.290 0.753 T 0.151 0.480 T . . . 4.640 0.622 24.5 0.998 0.846 0.929 0.567 D c 0.663 0.582 1.000 0.489 0.497 0.185 0 5.5 0.813 5.465 0.662 0.964 0.580 1.000 0.715 0.760 0.324 14.590 0.678 von Willebrand factor\x2c type A . . 0.0442 0.0089 0.0175 0.0250 5.798e-05 0.1072 0.0603 0.0438 0.0177 0.0460 0.0099 0.0287 0.0199 0 0.1091 0.0579 0.0582 het 2400.04 194 2 98809432 . T C 2400.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.481;DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=59.64;MQ0=0;MQRankSum=2.849;QD=12.37;ReadPosRankSum=0.794;VQSLOD=4.9200;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:107,87:194:99:2430,0,2731 2 98844674 98844674 C G exonic VWA3B nonsynonymous SNV VWA3B:NM_001345864:exon9:c.C1000G:p.L334V,VWA3B:NM_144992:exon15:c.C2029G:p.L677V 0.69 0.63 0.53 0.8 0.6 0.85 0.6320 0.6309 0.4588 0.7860 0.5689 0.5958 0.6771 0.8437 0.62 0.64 0.61 0.61 0.65 rs7601049 . . . . . . . . . . . . . 0.503 0.077 T 0.319 0.312 B 0.041 0.226 B 0.901 0.086 N 1 0.090 P 1.405 0.356 L 3.4 0.057 T -0.67 0.193 N 0.037 0.141 -0.975 0.362 T 0.000 0.000 T . . . -0.670 0.046 0.085 0.935 0.227 0.016 0.051 N c -0.749 -0.868 0.000 0.066 0.487 0.133 0 -5.07 0.027 -1.185 0.032 0.892 0.403 0.000 0.063 1.000 0.888 3.045 0.057 von Willebrand factor\x2c type A ENSG00000222000.3|ENSG00000144191.7 Cells_Transformed_fibroblasts|Esophagus_Mucosa 0.6273 0.6398 0.4745 0.6422 0.7865 0.5837 0.5971 0.6182 0.8374 0.6111 0.6364 0.5108 0.7119 0.7939 0.5745 0.5883 0.6153 het 1631.21 150 2 98844674 . C G 1631.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.051;DP=150;Dels=0.00;FS=2.976;HRun=0;HaplotypeScore=6.2195;MQ=58.76;MQ0=0;MQRankSum=-2.213;QD=10.87;ReadPosRankSum=-0.176;VQSLOD=3.2127;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,66:150:99:1661,0,2241 2 98853173 98853173 G A exonic VWA3B nonsynonymous SNV VWA3B:NM_001345864:exon13:c.G1624A:p.V542M,VWA3B:NM_144992:exon19:c.G2653A:p.V885M 0.66 0.62 0.49 0.8 0.54 0.83 0.5822 0.6084 0.4352 0.7858 0.5095 0.5265 0.6278 0.8153 0.57 0.61 0.54 0.59 0.56 rs11889349 COSM3758419 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.227 0.185 T 0.029 0.440 B 0.009 0.336 B 0.522 0.052 N 1 0.090 P 1.905 0.510 L 3.2 0.073 T -0.55 0.168 N 0.03 0.184 -1.002 0.292 T 0.000 0.000 T . . . -0.389 0.062 0.412 0.430 0.032 0.033 0.082 N c -1.233 -1.272 0.000 0.053 0.526 0.212 0 0.946 0.186 0.486 0.219 -0.870 0.028 0.005 0.169 0.162 0.208 4.495 0.112 . ENSG00000222000.3|ENSG00000144191.7 Cells_Transformed_fibroblasts|Esophagus_Mucosa 0.5788 0.6166 0.4513 0.6056 0.7860 0.5251 0.5253 0.5664 0.8087 0.5601 0.6092 0.4808 0.6755 0.7944 0.5190 0.5178 0.5615 het 3919.20 241 2 98853173 . G A 3919.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.451;DP=241;DS;Dels=0.00;FS=2.859;HRun=0;HaplotypeScore=5.6218;MQ=59.46;MQ0=0;MQRankSum=-0.286;QD=16.26;ReadPosRankSum=0.217;VQSLOD=4.8304;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,122:241:99:3310,0,3038 2 98928494 98928494 G A exonic VWA3B nonsynonymous SNV VWA3B:NM_001345864:exon21:c.G2705A:p.R902K,VWA3B:NM_144992:exon27:c.G3734A:p.R1245K 0.99 1. 0.99 1. 0.97 1. 0.9727 0.9932 0.9912 1 0.9330 0.9606 0.9644 0.9937 0.97 0.99 0.96 0.99 0.6 rs7587534 COSM4134222 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 3.59 0.046 T 0.17 0.051 N 0.002 0.196 -0.943 0.421 T 0.000 0.000 T . . . -1.434 0.018 0.003 0.460 0.036 0.009 0.034 N c -1.881 -1.869 0.840 0.248 0.526 0.212 0 -4.06 0.037 -0.766 0.048 -0.233 0.094 0.001 0.137 0.003 0.074 14.704 0.687 . . . 0.9709 0.9935 0.9877 0.9849 1 0.9304 0.9581 0.9698 0.9932 0.9683 0.9925 0.9821 0.9834 1 0.9313 0.9587 0.9632 het 192.09 14 2 98928494 . G A 192.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.627;DP=14;Dels=0.00;FS=2.027;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.625;QD=13.72;ReadPosRankSum=-0.225;VQSLOD=5.9472;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,8:14:99:222,0,163 2 98986510 98986510 T C exonic CNGA3 synonymous SNV CNGA3:NM_001079878:exon2:c.T72C:p.D24D,CNGA3:NM_001298:exon2:c.T72C:p.D24D 0.09 0.084 0.13 0.0099 0.17 0.075 0.1386 0.1089 0.1055 0.0063 0.1020 0.1814 0.1406 0.0913 0.15 0.11 0.18 0.098 0.18 rs6727412 COSM3758420 1(large_intestine) Benign|Likely benign not_specified|Achromatopsia RCV000251018.1|RCV000301009.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0152200:ORPHA49382:56852002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1330 0.0985 0.1066 0.1381 0.0063 0.1037 0.1823 0.1505 0.0879 0.1270 0.0967 0.1241 0.1093 0.0049 0.0987 0.1637 0.1459 het 1864.43 126 2 98986510 . T C 1864.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.607;DP=126;Dels=0.00;FS=1.491;HRun=1;HaplotypeScore=6.0615;MQ=59.52;MQ0=0;MQRankSum=0.334;QD=14.80;ReadPosRankSum=0.478;VQSLOD=5.0019;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,74:126:99:1894,0,1247 2 99149946 99149946 G A exonic INPP4A synonymous SNV INPP4A:NM_001134224:exon5:c.G258A:p.T86T,INPP4A:NM_001134225:exon5:c.G258A:p.T86T,INPP4A:NM_001351424:exon5:c.G258A:p.T86T,INPP4A:NM_001351425:exon5:c.G258A:p.T86T,INPP4A:NM_001351426:exon5:c.G258A:p.T86T,INPP4A:NM_001351427:exon5:c.G258A:p.T86T,INPP4A:NM_001351428:exon5:c.G258A:p.T86T,INPP4A:NM_001351429:exon5:c.G258A:p.T86T,INPP4A:NM_001566:exon5:c.G258A:p.T86T,INPP4A:NM_004027:exon5:c.G258A:p.T86T 0.23 0.075 0.3 0.3 0.27 0.28 0.2492 0.1122 0.2972 0.2874 0.2001 0.2580 0.27 0.2601 0.21 0.11 0.26 0.17 . rs2278211 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2526 0.1095 0.2875 0.3603 0.2824 0.2023 0.2541 0.2816 0.2596 0.2129 0.1179 0.2847 0.3113 0.2983 0.1979 0.2551 0.2327 het 1718.33 157 2 99149946 . G A 1718.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.625;DP=157;Dels=0.00;FS=0.643;HRun=0;HaplotypeScore=0.8321;MQ=59.71;MQ0=0;MQRankSum=-1.051;QD=10.94;ReadPosRankSum=0.080;VQSLOD=6.3740;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,66:157:99:1748,0,2452 2 99160361 99160361 G C exonic INPP4A synonymous SNV INPP4A:NM_001134224:exon11:c.G840C:p.L280L,INPP4A:NM_001134225:exon11:c.G840C:p.L280L,INPP4A:NM_001351424:exon11:c.G840C:p.L280L,INPP4A:NM_001351425:exon11:c.G840C:p.L280L,INPP4A:NM_001351426:exon11:c.G840C:p.L280L,INPP4A:NM_001351427:exon11:c.G840C:p.L280L,INPP4A:NM_001351428:exon11:c.G840C:p.L280L,INPP4A:NM_001351429:exon11:c.G840C:p.L280L,INPP4A:NM_001566:exon11:c.G840C:p.L280L,INPP4A:NM_004027:exon11:c.G840C:p.L280L 0.01 0.0008 0.022 . 0.033 0.002 0.0198 0.0048 0.0176 0 0.0301 0.0265 0.0277 0.0084 0.02 0.005 0.028 0.011 . rs2230387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0188 0.0043 0.0168 0.0173 0 0.0301 0.0252 0.0235 0.0069 0.0199 0.0049 0.0155 0.0132 0 0.0298 0.0285 0.0255 het 459.46 40 2 99160361 . G C 459.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.711;DP=40;Dels=0.00;FS=1.264;HRun=0;HaplotypeScore=0.7340;MQ=59.42;MQ0=0;MQRankSum=1.219;QD=11.49;ReadPosRankSum=-0.433;VQSLOD=5.9407;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,21:40:99:489,0,490 2 99193496 99193496 C T exonic INPP4A synonymous SNV INPP4A:NM_001351429:exon23:c.C2526T:p.S842S,INPP4A:NM_001134225:exon24:c.C2676T:p.S892S,INPP4A:NM_001351428:exon24:c.C2559T:p.S853S,INPP4A:NM_001134224:exon25:c.C2691T:p.S897S,INPP4A:NM_001351424:exon25:c.C2577T:p.S859S,INPP4A:NM_001351425:exon25:c.C2577T:p.S859S,INPP4A:NM_001351426:exon25:c.C2577T:p.S859S,INPP4A:NM_001351427:exon25:c.C2574T:p.S858S,INPP4A:NM_001566:exon25:c.C2574T:p.S858S,INPP4A:NM_004027:exon25:c.C2574T:p.S858S 0.26 0.16 0.3 0.29 0.27 0.31 0.2590 0.1746 0.3049 0.2973 0.2165 0.2574 0.2872 0.2786 0.23 0.17 0.26 0.24 . rs2230388 COSM4134227;COSM4134230;COSM4134228;COSM4134229 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.1700 0.2949 0.3215 0.2923 0.2156 0.2532 0.2796 0.2767 0.2294 0.1729 0.2854 0.2933 0.3079 0.2106 0.2530 0.2418 het 2162.70 183 2 99193496 . C T 2162.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.663;DP=183;Dels=0.00;FS=3.585;HRun=0;HaplotypeScore=4.1137;MQ=59.31;MQ0=0;MQRankSum=0.571;QD=11.82;ReadPosRankSum=0.538;VQSLOD=5.7842;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,89:183:99:2193,0,2269 2 99226173 99226173 T A exonic UNC50 startloss UNC50:NM_001330354:exon2:c.T2A:p.F2_M18del 0.29 0.24 0.3 0.31 0.27 0.32 0.2688 0.2546 0.3097 0.3108 0.2167 0.2587 0.2849 0.2878 0.26 0.26 0.26 0.27 . rs1062847 COSM4001806 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 0.000 0.588 P . . . . . . -0.01 0.072 N 0.094 0.094 -1.001 0.295 T 0.000 0.000 T . . . 0.849 0.175 9.765 0.708 0.091 0.003 0.016 N c -0.990 -1.206 1.000 0.747 0.543 0.218 0 -3.61 0.042 -1.750 0.019 -0.250 0.090 0.000 0.063 0.001 0.043 1.167 0.017 . ENSG00000040933.11|ENSG00000040933.11|ENSG00000115446.7|ENSG00000040933.11|ENSG00000115446.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Liver|Nerve_Tibial|Testis 0.2681 0.2531 0.2992 0.3507 0.3036 0.2150 0.2537 0.2844 0.2826 0.2552 0.2587 0.2967 0.3079 0.3154 0.2096 0.2544 0.2480 het 4189.26 250 2 99226173 . T A 4189.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.706;DP=250;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8667;MQ=59.42;MQ0=0;MQRankSum=0.971;QD=16.76;ReadPosRankSum=-1.264;VQSLOD=5.8746;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,129:250:99:3541,0,3354 2 99778985 99778985 T C exonic LIPT1 synonymous SNV LIPT1:NM_145199:exon2:c.T565C:p.L189L,LIPT1:NM_001204830:exon3:c.T565C:p.L189L,LIPT1:NM_015929:exon3:c.T565C:p.L189L,LIPT1:NM_145197:exon4:c.T565C:p.L189L,LIPT1:NM_145198:exon4:c.T565C:p.L189L 0.59 0.33 0.62 0.87 0.63 0.61 0.6127 0.3901 0.5214 0.8751 0.5681 0.6294 0.6272 0.6286 0.56 0.41 0.64 0.56 0.61 rs2632277 . . Benign not_specified RCV000419186.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6149 0.3873 0.5411 0.6299 0.8742 0.5661 0.6332 0.6247 0.6252 0.5712 0.3939 0.5931 0.6192 0.8843 0.5707 0.6371 0.5917 hom 5307.11 158 2 99778985 . T C 5307.11 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=33.59;VQSLOD=9.0872;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5307,409,0 2 99779131 99779131 T C exonic LIPT1 synonymous SNV LIPT1:NM_145199:exon2:c.T711C:p.A237A,LIPT1:NM_001204830:exon3:c.T711C:p.A237A,LIPT1:NM_015929:exon3:c.T711C:p.A237A,LIPT1:NM_145197:exon4:c.T711C:p.A237A,LIPT1:NM_145198:exon4:c.T711C:p.A237A 0.5 0.21 0.52 0.66 0.61 0.59 0.5611 0.2577 0.4050 0.6649 0.5471 0.6131 0.5654 0.6016 0.5 0.28 0.62 0.47 0.58 rs2516835 COSM5008345 1(large_intestine) Benign not_specified RCV000429922.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5626 0.2539 0.4264 0.6105 0.6731 0.5454 0.6176 0.5809 0.5974 0.5108 0.2667 0.4856 0.5867 0.6973 0.5470 0.6211 0.5561 hom 2362.80 70 2 99779131 . T C 2362.80 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;QD=33.75;VQSLOD=10.0006;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2396,187,0 2 99804642 99804642 T C exonic MRPL30 synonymous SNV MRPL30:NM_145212:exon3:c.T54C:p.T18T 0.83 0.69 0.93 0.95 0.88 0.75 0.8641 0.7392 0.9497 0.9700 0.7943 0.8774 0.8629 0.8001 0.83 0.75 0.88 0.79 0.51 rs10865030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8672 0.7255 0.9478 0.9350 0.9703 0.7952 0.8754 0.8788 0.7974 0.8254 0.7272 0.9545 0.9437 0.9765 0.7930 0.8642 0.8214 hom 938.51 37 2 99804642 . T C 938.51 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=25.37;VQSLOD=7.6314;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:75.22:972,75,0 2 99812070 99812070 G A exonic MRPL30 nonsynonymous SNV MRPL30:NM_145212:exon6:c.G388A:p.A130T 0.64 0.49 0.65 0.87 0.65 0.62 0.6366 0.5266 0.5349 0.8820 0.5767 0.6462 0.6432 0.6335 0.61 0.54 0.65 0.63 0.58 rs1044575 COSM1130704 3(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.445 N 1.000 0.090 P -0.385 0.030 N 1.15 0.382 T 1.64 0.006 N 0.006 0.001 -1.002 0.293 T 0.000 0.000 T . . . 0.356 0.128 6.224 0.283 0.014 0.006 0.028 N c -1.482 -1.405 0.000 0.058 0.707 0.730 0 -2.19 0.066 -0.076 0.113 0.166 0.246 0.002 0.151 0.924 0.398 6.003 0.186 . ENSG00000158411.6|ENSG00000158411.6|ENSG00000135951.10|ENSG00000158411.6|ENSG00000158411.6|ENSG00000158411.6|ENSG00000135951.10|ENSG00000158411.6|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000158411.6|ENSG00000135951.10|ENSG00000135951.10|ENSG00000158411.6|ENSG00000158411.6|ENSG00000158411.6|ENSG00000158411.6|ENSG00000144182.12|ENSG00000135951.10|ENSG00000158411.6|ENSG00000158411.6|ENSG00000135951.10|ENSG00000135945.5|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000144214.5|ENSG00000135951.10|ENSG00000135951.10|ENSG00000135951.10|ENSG00000144182.12|ENSG00000135951.10|ENSG00000135945.5|ENSG00000135951.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.6357 0.5243 0.5526 0.6610 0.8806 0.5751 0.6487 0.6447 0.6292 0.6217 0.5323 0.6169 0.6523 0.8929 0.5808 0.6546 0.6071 hom 7955.82 250 2 99812070 . G A 7955.82 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8606;MQ=53.89;MQ0=0;QD=31.82;VQSLOD=3.4626;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7954,668,0 2 100218080 100218080 G A exonic AFF3 synonymous SNV AFF3:NM_001025108:exon13:c.C1263T:p.A421A,AFF3:NM_002285:exon13:c.C1188T:p.A396A 0.24 0.013 0.23 0.4 0.29 0.33 0.3073 0.0617 0.2904 0.4250 0.2863 0.3037 0.3491 0.3936 0.2 0.056 0.27 0.2 0.23 rs4851214 COSM1752740 1(urinary_tract);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2710 0.0463 0.2327 0.2553 0.3869 0.2352 0.2768 0.2714 0.3525 0.2102 0.0550 0.2440 0.2252 0.3587 0.2291 0.2758 0.2429 het 238.67 24 2 100218080 . G A 238.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.753;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.174;QD=9.94;ReadPosRankSum=-0.869;VQSLOD=10.8354;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,11:24:99:269,0,322 2 100343557 100343557 C T exonic AFF3 nonsynonymous SNV AFF3:NM_001025108:exon10:c.G1148A:p.S383N,AFF3:NM_002285:exon10:c.G1073A:p.S358N 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 0.9999 . . . 1. 0.9 rs4851223 COSM4591070 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1.0000 1 1 1 1 1 1 1 1 hom 2669.25 91 2 100343557 . C T 2669.25 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6103;MQ=59.80;MQ0=0;QD=29.33;VQSLOD=8.3766;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2702,208,0 2 101086966 101086966 C T exonic NMS nonsynonymous SNV NMS:NM_001011717:exon1:c.C16T:p.P6S 0.27 0.28 0.19 0.35 0.2 0.3 0.2359 0.2685 0.1962 0.3545 0.2231 0.2117 0.2081 0.2856 0.24 0.27 0.22 0.28 0.17 rs13411940 COSM148914 1(stomach);1(pancreas);2(large_intestine) . . . . . . . . . . . 0.029 0.457 D 0.363 0.322 B 0.096 0.288 B 0.006 0.321 N 1 0.090 P 2.005 0.547 M 0.73 0.507 T -4.08 0.747 D 0.082 0.075 -1.004 0.287 T 0.000 0.000 T . . . 1.563 0.250 13.65 0.963 0.286 0.068 0.127 N c -0.622 -0.726 0.000 0.038 0.447 0.083 0 2.53 0.295 0.008 0.130 0.935 0.490 0.001 0.137 0.005 0.090 5.906 0.181 . ENSG00000115539.9 Muscle_Skeletal 0.2340 0.2663 0.1964 0.1704 0.3568 0.2223 0.2177 0.2067 0.2827 0.2382 0.2692 0.1862 0.1987 0.3541 0.2381 0.2126 0.2214 hom 6621 228 2 101086966 . C T 6621 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.443;DP=228;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.5534;MQ=59.61;MQ0=0;MQRankSum=0.228;QD=29.04;ReadPosRankSum=0.349;VQSLOD=3.9257;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,227:228:99:6581,466,0 2 101096960 101096960 C T exonic NMS synonymous SNV NMS:NM_001011717:exon7:c.C339T:p.G113G 0.8 0.92 0.69 1. 0.5 0.84 0.6384 0.8634 0.7688 0.9978 0.5744 0.4962 0.6015 0.8190 0.61 0.85 0.49 0.76 0.44 rs1519654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6356 0.8683 0.7485 0.4676 0.9984 0.5734 0.4931 0.5668 0.8202 0.6418 0.8533 0.7172 0.4735 0.9994 0.5765 0.4981 0.5774 hom 3671.06 129 2 101096960 . C T 3671.06 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5294;MQ=59.28;MQ0=0;QD=28.46;VQSLOD=7.4738;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3670,295,0 2 101186088 101186088 C T exonic PDCL3 synonymous SNV PDCL3:NM_024065:exon4:c.C273T:p.F91F 0.65 0.63 0.42 0.98 0.44 0.73 0.5129 0.6132 0.3820 0.9747 0.4833 0.4164 0.5066 0.6989 0.48 0.61 0.42 0.64 0.34 rs1052117 COSM3749587 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5120 0.6158 0.4074 0.4409 0.9766 0.4826 0.4164 0.4604 0.7034 0.5024 0.6040 0.3777 0.4437 0.9784 0.4914 0.4059 0.4443 hom 3590.28 109 2 101186088 . C T 3590.28 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5398;MQ=54.76;MQ0=0;QD=32.94;VQSLOD=3.4905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3590,286,0 2 101591304 101591304 A G exonic NPAS2 nonsynonymous SNV NPAS2:NM_002518:exon13:c.A1180G:p.T394A 0.8 0.93 0.71 0.86 0.67 0.75 0.7072 0.9023 0.7038 0.8450 0.7185 0.6567 0.7037 0.7145 0.75 0.89 0.67 0.83 0.7 rs2305160 COSM4132911;COSM4132910 1(bone);1(thyroid) . . . . . . . . . . . 0.853 0.027 T 0.001 0.067 B 0.003 0.080 B 0.163 0.176 N 1 0.090 P 0.075 0.083 N 3.53 0.049 T -0.34 0.127 N 0.045 0.025 -1.083 0.068 T 0.000 0.000 T . . . -2.189 0.006 0.001 0.414 0.030 0.006 0.025 N c -1.698 -1.626 0.797 0.241 0.707 0.730 0 -1.04 0.095 0.590 0.235 -0.793 0.032 0.000 0.063 0.029 0.146 6.399 0.207 . . . 0.7065 0.9037 0.7081 0.6695 0.8462 0.7214 0.6556 0.7048 0.7145 0.7386 0.8961 0.7093 0.6623 0.8424 0.7225 0.6463 0.6782 het 1143.99 99 2 101591304 . A G 1143.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.167;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6281;MQ=59.01;MQ0=0;MQRankSum=0.473;QD=11.56;ReadPosRankSum=0.170;VQSLOD=6.7148;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,47:99:99:1174,0,1397 2 101609827 101609827 C T exonic NPAS2 synonymous SNV NPAS2:NM_002518:exon20:c.C2130T:p.T710T 0.25 0.083 0.3 0.22 0.3 0.43 0.2990 0.1121 0.2760 0.2090 0.2660 0.3205 0.3009 0.4149 0.25 0.12 0.31 0.21 0.27 rs9223 COSM3757530;COSM3757531 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.053 0.388 T . . . . . . . . . 1.000 0.090 P . . . 1.52 0.307 T -0.4 0.138 N . . -0.966 0.380 T 0.000 0.000 T . . . 2.011 0.303 16.28 0.928 0.218 0.022 0.063 N c -0.979 -1.174 1.000 0.747 0.707 0.730 0 -8.78 0.007 -1.186 0.032 -0.966 0.023 0.001 0.137 0.145 0.203 1.636 0.026 . . . 0.2991 0.1134 0.2736 0.4351 0.2111 0.2656 0.3155 0.3130 0.3897 0.2483 0.1186 0.3022 0.4636 0.1985 0.2549 0.3191 0.2653 het 1911.51 145 2 101609827 . C T 1911.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.937;DP=145;Dels=0.00;FS=10.505;HRun=0;HaplotypeScore=1.6120;MQ=59.16;MQ0=0;MQRankSum=0.770;QD=13.18;ReadPosRankSum=0.849;VQSLOD=4.4893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,75:145:99:1942,0,1633 2 101624471 101624471 T C exonic TBC1D8 nonsynonymous SNV TBC1D8:NM_001102426:exon20:c.A3235G:p.R1079G,TBC1D8:NM_001330348:exon20:c.A3280G:p.R1094G 0.51 0.47 0.57 0.29 0.68 0.59 0.6101 0.4972 0.5632 0.3052 0.6073 0.6795 0.6069 0.5897 0.62 0.52 0.67 0.53 . rs746924 COSM3757533;COSM3757532 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.855 0.033 T 0.0 0.026 B 0.0 0.013 B 0.001 0.405 N 0.000 0.810 P -1.185 0.009 N 4.09 0.030 T 1.48 0.008 N 0.012 0.077 -1.113 0.028 T 0.000 0.000 T . . . 1.167 0.207 11.57 0.651 0.075 0.438 0.269 N c -0.780 -0.572 1.000 0.747 0.646 0.442 0 5.14 0.699 1.386 0.338 -0.020 0.129 0.919 0.317 0.747 0.321 13.542 0.610 . . . 0.6082 0.4966 0.5576 0.7420 0.3069 0.5976 0.6800 0.6538 0.5839 0.5990 0.5110 0.5841 0.7517 0.2942 0.5992 0.6804 0.6051 het 835.21 65 2 101624471 . T C 835.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.702;DP=65;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=-0.833;QD=12.85;ReadPosRankSum=-0.243;VQSLOD=6.7659;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,32:65:99:865,0,884 2 101638888 101638888 A G exonic TBC1D8 synonymous SNV TBC1D8:NM_001102426:exon16:c.T2571C:p.D857D,TBC1D8:NM_001330348:exon16:c.T2616C:p.D872D 0.53 0.52 0.55 0.29 0.68 0.59 0.6097 0.5570 0.5056 0.3063 0.6082 0.6792 0.6050 0.5907 0.64 0.58 0.67 0.53 . rs3739014 COSM4132914;COSM4132915 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6031 0.5526 0.5006 0.7412 0.3064 0.5972 0.6788 0.6481 0.5830 0.6127 0.5655 0.5443 0.7517 0.2947 0.5987 0.6792 0.6074 het 132.94 35 2 101638888 . A G 132.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.923;DP=35;Dels=0.00;FS=1.496;HRun=0;HaplotypeScore=0.9995;MQ=59.34;MQ0=0;MQRankSum=0.295;QD=3.80;ReadPosRankSum=-0.530;VQSLOD=4.2493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,8:35:99:163,0,780 2 101644855 101644855 G A exonic TBC1D8 synonymous SNV TBC1D8:NM_001102426:exon13:c.C2217T:p.P739P,TBC1D8:NM_001330348:exon13:c.C2262T:p.P754P 0.22 0.036 0.29 0.17 0.27 0.4 0.2778 0.0676 0.2580 0.1580 0.2588 0.3032 0.2742 0.3999 0.22 0.076 0.29 0.16 . rs11683877 COSM148916;COSM4001100 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2772 0.0667 0.2566 0.4263 0.1609 0.2563 0.2984 0.2887 0.3659 0.2239 0.0744 0.2890 0.4470 0.1477 0.2484 0.3038 0.2469 het 1627.08 127 2 101644855 . G A 1627.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.696;DP=127;Dels=0.00;FS=5.255;HRun=0;HaplotypeScore=2.9615;MQ=58.41;MQ0=0;MQRankSum=1.125;QD=12.81;ReadPosRankSum=-0.608;VQSLOD=5.2000;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,64:127:99:1657,0,1708 2 101656726 101656726 T C exonic TBC1D8 nonsynonymous SNV TBC1D8:NM_001102426:exon6:c.A949G:p.T317A,TBC1D8:NM_001330348:exon6:c.A994G:p.T332A 0.49 0.35 0.56 0.31 0.68 0.59 0.5997 0.4044 0.5526 0.3201 0.5960 0.6745 0.6027 0.5929 0.59 0.43 0.66 0.49 . rs2289953 COSM4132918;COSM4132919 1(thyroid) . . . . . . . . . . . 0.508 0.075 T 0.0 0.026 B 0.0 0.013 B 0.912 0.085 N 1 0.090 P -1.78 0.003 N -2.12 0.863 D 0.87 0.017 N 0.066 0.075 -0.907 0.472 T 0.000 0.000 T . . . -0.343 0.065 0.530 0.746 0.104 0.016 0.051 N c -1.227 -1.073 1.000 0.747 0.706 0.609 0 4.0 0.455 1.229 0.320 0.067 0.174 0.000 0.063 0.043 0.159 11.385 0.488 GRAM domain . . 0.5991 0.4033 0.5489 0.7489 0.3229 0.5838 0.6744 0.6472 0.5876 0.5665 0.4173 0.5731 0.7633 0.3053 0.5853 0.6711 0.5896 het 1561.34 144 2 101656726 . T C 1561.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.587;DP=144;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9756;MQ=59.74;MQ0=0;MQRankSum=-1.582;QD=10.84;ReadPosRankSum=0.459;VQSLOD=5.1450;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,66:144:99:1591,0,2294 2 101898412 101898412 G C exonic RNF149 nonsynonymous SNV RNF149:NM_173647:exon6:c.C1068G:p.D356E 0.85 0.63 0.91 1. 0.87 0.91 0.8710 0.6715 0.9393 0.9988 0.8930 0.8675 0.9031 0.8854 0.81 0.69 0.87 0.81 0.86 rs13151 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.384 0.044 N 1 0.090 P 0 0.065 N 3.16 0.077 T 0.51 0.029 N 0.013 0.003 -1.053 0.135 T 0.000 0.000 T . . . -1.305 0.022 0.004 0.196 0.007 0.017 0.054 N c -1.619 -1.601 0.148 0.174 0.707 0.730 0 -1.9 0.072 -1.246 0.030 -0.880 0.027 0.000 0.063 0.000 0.016 3.189 0.062 . . . 0.8780 0.6729 0.9339 0.8756 0.9993 0.8973 0.8642 0.8801 0.8877 0.8265 0.6820 0.8938 0.8841 0.9994 0.8948 0.8668 0.8859 hom 6471.77 197 2 101898412 . G C 6471.77 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.44;MQ0=0;QD=32.85;VQSLOD=9.5094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:6471,506,0 2 102968007 102968007 G A exonic IL1RL1 nonsynonymous SNV IL1RL1:NM_016232:exon11:c.G1297A:p.A433T 0.39 0.75 0.29 0.13 0.4 0.21 0.3514 0.7067 0.2088 0.1216 0.4086 0.3856 0.3521 0.1822 0.5 0.7 0.39 0.53 0.38 rs4988956 COSM3757548 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.051 0.393 T 0.693 0.397 P 0.201 0.352 B 0.030 0.254 N 1.000 0.090 P 2.07 0.570 M 3.15 0.078 T -1.66 0.397 N 0.024 0.007 -1.097 0.044 T 0.000 0.000 T . . . 1.480 0.240 13.21 0.984 0.406 0.152 0.186 N c -0.382 -0.483 1.000 0.747 0.503 0.197 0 2.35 0.280 1.771 0.379 0.014 0.141 0.102 0.226 0.081 0.181 6.596 0.217 Toll/interleukin-1 receptor homology (TIR) domain ENSG00000115604.6|ENSG00000234389.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000236785.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115607.5|ENSG00000236525.1|ENSG00000234389.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3408 0.7111 0.2155 0.4610 0.1149 0.4159 0.3800 0.3708 0.1794 0.4516 0.6926 0.2243 0.4933 0.1108 0.4246 0.3725 0.3617 het 1345.32 88 2 102968007 . G A 1345.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.883;DP=88;Dels=0.00;FS=3.157;HRun=0;HaplotypeScore=1.7480;MQ=59.26;MQ0=0;MQRankSum=0.064;QD=15.29;ReadPosRankSum=0.253;VQSLOD=6.5564;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,54:88:99:1375,0,940 2 102968075 102968075 T C exonic IL1RL1 synonymous SNV IL1RL1:NM_016232:exon11:c.T1365C:p.N455N 0.39 0.75 0.29 0.12 0.4 0.21 0.3499 0.7067 0.2090 0.1230 0.4087 0.3850 0.3535 0.1770 0.5 0.7 0.39 0.53 0.38 rs4988957 COSM3757549 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3410 0.7113 0.2156 0.4610 0.1157 0.4160 0.3802 0.3710 0.1794 0.4520 0.6928 0.2230 0.4967 0.1106 0.4237 0.3732 0.3617 het 1758.07 119 2 102968075 . T C 1758.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.558;DP=119;Dels=0.00;FS=4.470;HRun=0;HaplotypeScore=0.0000;MQ=58.59;MQ0=0;MQRankSum=1.146;QD=14.77;ReadPosRankSum=-0.407;VQSLOD=5.3706;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1788,0,1522 2 102968211 102968211 C A exonic IL1RL1 nonsynonymous SNV IL1RL1:NM_016232:exon11:c.C1501A:p.Q501K 0.38 0.74 0.29 0.12 0.4 0.2 0.3483 0.7056 0.2076 0.1223 0.4052 0.3832 0.3529 0.1767 0.035 0.069 0.018 . 0.39 rs10192036 COSM3757550 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.655 0.105 N 1.000 0.210 P -0.68 0.020 N 3.3 0.064 T 1.33 0.009 N 0.015 0.002 -0.909 0.470 T 0.000 0.000 T . . . -2.652 0.002 0.001 0.667 0.079 0.012 0.041 N c -1.900 -1.889 1.000 0.747 0.520 0.209 0 -4.59 0.031 -0.324 0.080 -1.422 0.011 0.000 0.063 0.001 0.043 20.751 0.997 Toll/interleukin-1 receptor homology (TIR) domain ENSG00000115604.6|ENSG00000234389.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000236785.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115607.5|ENSG00000236525.1|ENSG00000234389.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3406 0.7112 0.2156 0.4607 0.1153 0.4157 0.3796 0.3705 0.1795 0.4503 0.6911 0.2225 0.4966 0.1092 0.4235 0.3715 0.3591 het 1085.01 71 2 102968211 . C A 1085.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DP=71;Dels=0.00;FS=7.323;HRun=1;HaplotypeScore=0.5784;MQ=59.35;MQ0=0;MQRankSum=0.466;QD=15.28;ReadPosRankSum=-0.132;VQSLOD=5.1372;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,36:71:99:1115,0,1009 2 102968212 102968212 A G exonic IL1RL1 nonsynonymous SNV IL1RL1:NM_016232:exon11:c.A1502G:p.Q501R 0.38 0.74 0.29 0.12 0.4 0.2 0.3483 0.7056 0.2076 0.1223 0.4048 0.3833 0.3529 0.1768 0.052 0.1 0.028 . 0.39 rs10204137 COSM3757551 1(liver);1(large_intestine) . . . . . . . . . . . 0.656 0.047 T 0.0 0.026 B 0.002 0.063 B 0.655 0.105 N 1.000 0.186 P 0.43 0.127 N 3.21 0.071 T 0.99 0.014 N 0.008 0.000 -0.989 0.330 T 0.000 0.000 T . . . -2.356 0.004 0.001 0.440 0.033 0.026 0.071 N c -1.615 -1.611 1.000 0.517 0.520 0.209 0 -0.566 0.111 0.111 0.152 -1.323 0.013 0.008 0.178 0.002 0.062 10.317 0.427 Toll/interleukin-1 receptor homology (TIR) domain ENSG00000115604.6|ENSG00000234389.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000236785.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115607.5|ENSG00000236525.1|ENSG00000234389.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3406 0.7112 0.2156 0.4607 0.1152 0.4156 0.3797 0.3705 0.1795 0.4503 0.6910 0.2236 0.4966 0.1093 0.4235 0.3715 0.3591 het 1009.61 70 2 102968212 . A G 1009.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.458;DP=70;Dels=0.00;FS=5.451;HRun=1;HaplotypeScore=0.5784;MQ=59.34;MQ0=0;MQRankSum=0.223;QD=14.42;ReadPosRankSum=0.117;VQSLOD=6.0250;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,35:70:99:1040,0,1025 2 102968285 102968285 T C exonic IL1RL1 synonymous SNV IL1RL1:NM_016232:exon11:c.T1575C:p.S525S 0.39 0.75 0.29 0.12 0.4 0.21 0.3497 0.7067 0.2089 0.1224 0.4088 0.3850 0.3543 0.1768 0.5 0.7 0.39 0.53 0.36 rs4988958 COSM3757552 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3408 0.7111 0.2155 0.4608 0.1151 0.4160 0.3799 0.3709 0.1794 0.4515 0.6922 0.2230 0.4967 0.1108 0.4238 0.3727 0.3586 het 541.61 38 2 102968285 . T C 541.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.833;DP=38;Dels=0.00;FS=1.210;HRun=1;HaplotypeScore=1.8947;MQ=60.00;MQ0=0;MQRankSum=-2.178;QD=14.25;ReadPosRankSum=1.593;VQSLOD=4.9430;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:572,0,539 2 102968356 102968356 C T exonic IL1RL1 nonsynonymous SNV IL1RL1:NM_016232:exon11:c.C1646T:p.T549I 0.39 0.75 0.29 0.12 0.4 0.21 0.3525 0.7066 0.2085 0.1198 0.4074 0.3860 0.3589 0.1924 0.49 0.7 0.39 0.53 0.38 rs10192157 COSM3757553 2(haematopoietic_and_lymphoid_tissue);1(liver);2(large_intestine) . . . . . . . . . . . 0.128 0.269 T 0.063 0.219 B 0.023 0.188 B 0.095 0.025 N 1 0.090 P 0.14 0.088 N 0.24 0.596 T -0.25 0.110 N 0.04 0.020 -0.937 0.432 T 0.000 0.000 T . . . 0.647 0.156 8.475 0.972 0.323 0.009 0.036 N c -1.073 -1.075 1.000 0.517 0.539 0.216 0 -0.89 0.100 -1.724 0.020 0.767 0.311 0.000 0.063 0.014 0.122 3.239 0.063 . ENSG00000115604.6|ENSG00000234389.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000236785.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115607.5|ENSG00000236525.1|ENSG00000234389.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3408 0.7112 0.2160 0.4624 0.1145 0.4154 0.3801 0.3712 0.1794 0.4498 0.6905 0.2254 0.5 0.1106 0.4235 0.3707 0.3560 het 1180.77 88 2 102968356 . C T 1180.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.886;DP=88;Dels=0.00;FS=1.819;HRun=1;HaplotypeScore=1.6553;MQ=58.94;MQ0=0;MQRankSum=-0.238;QD=13.42;ReadPosRankSum=-1.014;VQSLOD=6.4312;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,44:88:99:1211,0,1214 2 102968362 102968362 T C exonic IL1RL1 nonsynonymous SNV IL1RL1:NM_016232:exon11:c.T1652C:p.L551S 0.39 0.75 0.29 0.12 0.4 0.21 0.3530 0.7070 0.2084 0.1201 0.4072 0.3861 0.3568 0.1941 0.49 0.7 0.39 0.53 0.38 rs10206753 COSM3766473 3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.134 0.263 T 0.352 0.319 B 0.02 0.179 B 0.000 0.002 N 1.000 0.182 P 1 0.253 L -0.02 0.629 T -1.42 0.350 N 0.068 0.055 -0.910 0.469 T 0.000 0.000 T . . . 1.812 0.279 15.06 0.969 0.309 0.070 0.129 N c -0.757 -0.821 1.000 0.458 0.539 0.216 0 1.12 0.196 0.346 0.196 0.722 0.304 0.000 0.063 0.012 0.117 3.956 0.088 . ENSG00000115604.6|ENSG00000234389.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000236785.1|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000234389.1|ENSG00000115604.6|ENSG00000115607.5|ENSG00000236525.1|ENSG00000234389.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3407 0.7113 0.2158 0.4605 0.1145 0.4157 0.3801 0.3718 0.1792 0.4497 0.6905 0.2243 0.4967 0.1105 0.4234 0.3707 0.3560 het 1134.10 92 2 102968362 . T C 1134.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.006;DP=92;Dels=0.00;FS=4.059;HRun=0;HaplotypeScore=3.8577;MQ=58.58;MQ0=0;MQRankSum=0.656;QD=12.33;ReadPosRankSum=0.131;VQSLOD=5.5555;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,43:92:99:1164,0,1303 2 103001402 103001402 C T exonic IL18R1 synonymous SNV IL18R1:NM_001282399:exon7:c.C288T:p.F96F,IL18R1:NM_003855:exon7:c.C753T:p.F251F 0.26 0.14 0.19 0.42 0.25 0.3 0.2632 0.1555 0.1711 0.4028 0.2887 0.2695 0.2324 0.2881 0.23 0.16 0.27 0.22 0.31 rs1035130 COSM4001107 1(bone);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2580 0.1518 0.1693 0.1555 0.4041 0.2742 0.2762 0.2304 0.2854 0.2560 0.1687 0.1947 0.1633 0.4303 0.2772 0.2854 0.3021 het 1312.65 102 2 103001402 . C T 1312.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.996;DP=102;Dels=0.00;FS=0.741;HRun=2;HaplotypeScore=0.7340;MQ=59.55;MQ0=0;MQRankSum=0.388;QD=12.87;ReadPosRankSum=-0.074;VQSLOD=6.8575;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,49:102:99:1343,0,1351 2 103095404 103095404 G A exonic SLC9A4 synonymous SNV SLC9A4:NM_001011552:exon2:c.G363A:p.S121S 0.34 0.28 0.33 0.23 0.52 0.35 0.4195 0.2920 0.2774 0.2391 0.6122 0.4833 0.4570 0.3563 0.42 0.3 0.48 0.41 0.56 rs11692304 COSM3757554 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4194 0.2832 0.2905 0.4581 0.2347 0.6050 0.4808 0.4501 0.3561 0.4398 0.3008 0.3158 0.4934 0.2512 0.6135 0.5035 0.4847 het 1770.31 140 2 103095404 . G A 1770.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.570;DP=140;Dels=0.00;FS=13.144;HRun=0;HaplotypeScore=3.7929;MQ=59.34;MQ0=0;MQRankSum=0.196;QD=12.65;ReadPosRankSum=0.222;VQSLOD=4.4047;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,68:140:99:1800,0,1677 2 103149100 103149100 G A exonic SLC9A4 nonsynonymous SNV SLC9A4:NM_001011552:exon12:c.G2350A:p.G784S 0.62 0.67 0.68 0.53 0.68 0.56 0.6287 0.6353 0.7445 0.5003 0.7240 0.6311 0.6264 0.5631 0.64 0.64 0.64 0.71 0.73 rs1014286 COSM3766476 2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . Serum protein levels (sST2) . -0.11 23999434 rs1014286 3E-33 0.945 0.022 T 0.0 0.026 B 0.001 0.040 B 0.903 0.074 N 1 0.090 P -0.49 0.026 N 1.07 0.396 T 0.49 0.030 N 0.028 0.009 -0.977 0.358 T 0.000 0.000 T . . . -0.703 0.045 0.071 0.457 0.036 0.008 0.032 N c -1.880 -1.966 0.979 0.299 0.487 0.133 0 -11.0 0.001 -0.493 0.065 -0.618 0.043 0.000 0.063 0.003 0.074 9.557 0.383 . ENSG00000115602.12|ENSG00000115607.5 Lung|Whole_Blood 0.6348 0.6272 0.7355 0.6054 0.4996 0.7135 0.6325 0.6468 0.5631 0.6526 0.6315 0.6998 0.6093 0.5025 0.7203 0.6610 0.6895 het 979.13 79 2 103149100 . G A 979.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.719;DP=79;Dels=0.00;FS=9.728;HRun=0;HaplotypeScore=2.4947;MQ=59.71;MQ0=0;MQRankSum=0.321;QD=12.39;ReadPosRankSum=-0.933;VQSLOD=4.6822;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,35:79:99:1009,0,1188 2 103317676 103317676 A G exonic SLC9A2 synonymous SNV SLC9A2:NM_003048:exon8:c.A1734G:p.T578T 0.0062 . 0.013 . 0.021 0.001 0.0143 0.0035 0.0090 0.0001 0.0102 0.0216 0.0211 0.0043 0.016 0.0036 0.023 . 0.0082 rs17776702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0139 0.0034 0.0078 0.0078 6.101e-05 0.0095 0.0228 0.0139 0.0048 0.0153 0.0052 0.0095 0.0099 0 0.0092 0.0253 0.0051 het 1085.41 94 2 103317676 . A G 1085.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.751;DP=94;Dels=0.00;FS=5.118;HRun=0;HaplotypeScore=1.7866;MQ=58.80;MQ0=0;MQRankSum=0.594;QD=11.55;ReadPosRankSum=1.078;VQSLOD=5.6356;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,48:94:99:1115,0,1125 2 103431404 103431404 T C exonic TMEM182 nonsynonymous SNV TMEM182:NM_001321346:exon4:c.T241C:p.W81R,TMEM182:NM_001321345:exon5:c.T379C:p.W127R,TMEM182:NM_144632:exon5:c.T667C:p.W223R,TMEM182:NM_001321344:exon6:c.T538C:p.W180R,TMEM182:NM_001321343:exon7:c.T538C:p.W180R 0.99 1. 0.99 1. 0.97 0.99 0.9765 0.9945 0.9883 0.9999 0.9711 0.9671 0.9780 0.9846 0.97 0.99 0.97 0.99 0.95 rs887987 COSM5000801 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -2.05 0.002 N 1.39 0.340 T 5.97 0.000 N 0.074 0.072 -0.971 0.370 T 0.000 0.000 T . . . 0.628 0.154 8.348 0.708 0.091 0.008 0.031 N c -1.111 -0.858 0.170 0.177 0.693 0.558 0 2.93 0.329 1.103 0.305 0.069 0.176 0.090 0.224 0.967 0.454 8.282 0.309 . . . 0.9775 0.9953 0.9897 0.9771 0.9998 0.9725 0.9671 0.9757 0.9843 0.9737 0.9960 0.9916 0.9801 0.9994 0.9760 0.9566 0.9715 hom 1265.67 48 2 103431404 . T C 1265.67 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=58.73;MQ0=0;QD=26.37;VQSLOD=7.1964;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1299,105,0 2 105665808 105665808 C T exonic MRPS9 synonymous SNV MRPS9:NM_182640:exon2:c.C315T:p.D105D 0.19 0.22 0.29 0.11 0.22 0.13 0.2024 0.2260 0.2209 0.1062 0.1660 0.2288 0.1858 0.1349 0.23 0.22 0.24 0.2 0.16 rs11538197 COSM4001108 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2044 0.2253 0.2290 0.2357 0.1111 0.1693 0.2299 0.2238 0.1374 0.2091 0.2204 0.2261 0.2450 0.1110 0.1499 0.2262 0.1929 hom 1433.68 49 2 105665808 . C T 1433.68 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=29.26;VQSLOD=8.5393;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1467,114,0 2 105705507 105705507 C T exonic MRPS9 synonymous SNV MRPS9:NM_182640:exon6:c.C555T:p.L185L 0.17 0.13 0.28 0.11 0.22 0.13 0.1942 0.1436 0.2157 0.1067 0.1657 0.2273 0.1829 0.1347 0.21 0.14 0.24 0.17 0.13 rs11538198 COSM4001109 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1960 0.1420 0.2187 0.2331 0.1095 0.1684 0.2278 0.2200 0.1359 0.1877 0.1455 0.2184 0.2450 0.1114 0.1505 0.2263 0.1876 hom 1380.82 45 2 105705507 . C T 1380.82 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=58.12;MQ0=0;QD=30.68;VQSLOD=8.1229;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1414,114,0 2 105709023 105709023 T C exonic MRPS9 synonymous SNV MRPS9:NM_182640:exon8:c.T816C:p.S272S 0.98 1. 0.97 1. 0.95 0.99 0.9707 0.9920 0.9820 0.9999 0.9525 0.9594 0.9592 0.9874 0.97 0.99 0.96 0.98 0.93 rs6543282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9697 0.9933 0.9822 0.9680 1 0.9526 0.9587 0.9679 0.9879 0.9676 0.9912 0.9785 0.9669 1 0.9522 0.9533 0.9684 hom 2085.66 77 2 105709023 . T C 2085.66 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.70;MQ0=0;QD=27.09;VQSLOD=6.8575;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2119,174,0 2 105713697 105713697 A G exonic MRPS9 synonymous SNV MRPS9:NM_182640:exon10:c.A1014G:p.S338S 0.17 0.13 0.28 0.11 0.22 0.13 0.1943 0.1426 0.2163 0.1063 0.1652 0.2274 0.1821 0.1360 0.21 0.15 0.24 0.17 0.2 rs15567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1975 0.1424 0.2228 0.235 0.1098 0.1689 0.2288 0.2221 0.1374 0.1872 0.1451 0.2165 0.2450 0.1094 0.1506 0.2257 0.1904 hom 3791.65 118 2 105713697 . A G 3791.65 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9283;MQ=59.49;MQ0=0;QD=32.13;VQSLOD=8.8835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3791,307,0 2 105885961 105885961 T C exonic TGFBRAP1 nonsynonymous SNV TGFBRAP1:NM_001142621:exon11:c.A2174G:p.H725R,TGFBRAP1:NM_001328646:exon11:c.A2174G:p.H725R,TGFBRAP1:NM_004257:exon11:c.A2174G:p.H725R 0.5 0.47 0.64 0.28 0.66 0.52 0.5812 0.4807 0.5858 0.2778 0.6195 0.6418 0.5595 0.5420 0.59 0.49 0.65 0.49 0.46 rs2241797 . . . . . . . . . . . . . 0.659 0.047 T 0.0 0.026 B 0.0 0.063 B 0.074 0.023 N 1 0.090 P -0.375 0.030 N 1.03 0.405 T -0.11 0.087 N 0.012 0.002 -0.970 0.373 T 0.000 0.000 T . . . -2.684 0.002 0.001 0.228 0.009 0.070 0.129 N c -1.775 -1.788 0.991 0.322 0.719 0.830 0 -6.99 0.014 -0.173 0.098 -0.918 0.026 0.000 0.063 0.004 0.083 11.564 0.499 . . . 0.5826 0.4710 0.6051 0.5718 0.2747 0.6067 0.6463 0.5922 0.5433 0.5709 0.4824 0.6160 0.5894 0.2763 0.6173 0.6392 0.5888 het 486.55 33 2 105885961 . T C 486.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.782;DP=33;Dels=0.00;FS=3.412;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.534;QD=14.74;ReadPosRankSum=-0.092;VQSLOD=6.4707;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,20:33:99:517,0,362 2 105889349 105889349 G A exonic TGFBRAP1 synonymous SNV TGFBRAP1:NM_001142621:exon10:c.C1935T:p.L645L,TGFBRAP1:NM_001328646:exon10:c.C1935T:p.L645L,TGFBRAP1:NM_004257:exon10:c.C1935T:p.L645L 0.12 0.0091 0.22 0.08 0.22 0.12 0.1768 0.0377 0.2153 0.0876 0.2780 0.2048 0.2095 0.1287 0.15 0.041 0.21 0.098 0.15 rs11676273 COSM4001112 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1860 0.0340 0.2198 0.2620 0.0882 0.2769 0.2032 0.2057 0.1286 0.1615 0.0386 0.2081 0.2848 0.0928 0.2791 0.2059 0.1918 het 745.98 81 2 105889349 . G A 745.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.440;DP=81;Dels=0.00;FS=2.257;HRun=1;HaplotypeScore=3.9574;MQ=59.25;MQ0=0;MQRankSum=0.999;QD=9.21;ReadPosRankSum=0.154;VQSLOD=5.9050;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,30:81:99:776,0,1430 2 105915128 105915128 G A exonic TGFBRAP1 synonymous SNV TGFBRAP1:NM_001142621:exon3:c.C723T:p.R241R,TGFBRAP1:NM_001328646:exon3:c.C723T:p.R241R,TGFBRAP1:NM_004257:exon3:c.C723T:p.R241R 0.3 0.31 0.23 0.53 0.14 0.25 0.2070 0.3054 0.3031 0.5633 0.1362 0.1308 0.2146 0.2257 0.19 0.3 0.14 0.3 0.2 rs12476720 COSM148921 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2083 0.3109 0.2887 0.1349 0.5692 0.1362 0.1333 0.1942 0.2201 0.2093 0.2896 0.2494 0.1060 0.5700 0.1368 0.1422 0.1840 het 1099.06 76 2 105915128 . G A 1099.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DP=76;Dels=0.00;FS=14.734;HRun=0;HaplotypeScore=4.4983;MQ=59.26;MQ0=0;MQRankSum=-0.419;QD=14.46;ReadPosRankSum=0.765;VQSLOD=2.9765;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,43:76:99:1129,0,885 2 105924510 105924510 A G exonic TGFBRAP1 synonymous SNV TGFBRAP1:NM_001142621:exon2:c.T249C:p.R83R,TGFBRAP1:NM_001328646:exon2:c.T249C:p.R83R,TGFBRAP1:NM_004257:exon2:c.T249C:p.R83R 0.64 0.68 0.58 0.74 0.49 0.66 0.5428 0.6652 0.5966 0.7469 0.3886 0.4830 0.4978 0.6259 0.55 0.67 0.49 0.24 0.52 rs2241801 COSM3723855 1(skin);2(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5373 0.6787 0.5863 0.3857 0.7467 0.3858 0.4904 0.5141 0.6279 0.5494 0.6811 0.5909 0.3576 0.7519 0.4006 0.4900 0.5092 het 1263.69 74 2 105924510 . A G 1263.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.794;DP=74;Dels=0.00;FS=2.090;HRun=0;HaplotypeScore=1.6553;MQ=59.38;MQ0=0;MQRankSum=-0.476;QD=17.08;ReadPosRankSum=0.443;VQSLOD=6.3160;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,45:74:99:1294,0,744 2 105977761 105977761 G A exonic FHL2 synonymous SNV FHL2:NM_001318897:exon5:c.C477T:p.P159P,FHL2:NM_001318894:exon6:c.C819T:p.P273P,FHL2:NM_001318896:exon6:c.C819T:p.P273P,FHL2:NM_001318898:exon6:c.C477T:p.P159P,FHL2:NM_001450:exon6:c.C819T:p.P273P,FHL2:NM_201557:exon6:c.C819T:p.P273P,FHL2:NM_001039492:exon7:c.C819T:p.P273P,FHL2:NM_001318895:exon7:c.C819T:p.P273P,FHL2:NM_001318899:exon8:c.C495T:p.P165P,FHL2:NM_201555:exon8:c.C819T:p.P273P 0.11 0.081 0.16 0.026 0.2 0.12 0.1567 0.0996 0.0803 0.0243 0.2430 0.1934 0.1839 0.1312 0.16 0.1 0.2 0.18 0.22 rs11124029 COSM3757559 1(large_intestine) Benign not_specified RCV000041653.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1593 0.0991 0.0907 0.2142 0.0255 0.2473 0.1935 0.1756 0.1307 0.1609 0.1045 0.1014 0.2384 0.0228 0.2424 0.1913 0.1640 het 2208.05 170 2 105977761 . G A 2208.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.589;DP=170;Dels=0.00;FS=0.567;HRun=0;HaplotypeScore=7.7441;MQ=59.89;MQ0=0;MQRankSum=1.689;QD=12.99;ReadPosRankSum=1.430;VQSLOD=3.9618;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:82,88:170:99:2238,0,2114 2 107423395 107423395 T G exonic ST6GAL2 synonymous SNV ST6GAL2:NM_001142351:exon6:c.A1329C:p.I443I,ST6GAL2:NM_001322362:exon6:c.A1329C:p.I443I,ST6GAL2:NM_032528:exon6:c.A1329C:p.I443I 0.41 0.45 0.47 0.17 0.61 0.34 0.5316 0.4960 0.4564 0.1728 0.6614 0.6053 0.5598 0.4250 0.55 0.48 0.59 0.43 0.39 rs1470590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5129 0.4839 0.4371 0.5756 0.1549 0.6521 0.5904 0.5492 0.4110 0.5411 0.4734 0.4713 0.5464 0.1477 0.6515 0.5982 0.5845 het 514.23 37 2 107423395 . T G 514.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.602;DP=37;Dels=0.00;FS=10.401;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=1.088;QD=13.90;ReadPosRankSum=1.426;VQSLOD=4.5119;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,21:37:99:544,0,438 2 107450589 107450589 C T exonic ST6GAL2 synonymous SNV ST6GAL2:NM_001142351:exon3:c.G957A:p.A319A,ST6GAL2:NM_001142352:exon3:c.G957A:p.A319A,ST6GAL2:NM_001322362:exon3:c.G957A:p.A319A,ST6GAL2:NM_032528:exon3:c.G957A:p.A319A 0.37 0.41 0.3 0.57 0.18 0.36 0.2672 0.3823 0.4397 0.5818 0.3192 0.1590 0.2445 0.3272 0.23 0.38 0.16 0.33 0.12 rs3796111 COSM3757564;COSM3757565 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2736 0.3889 0.4180 0.1727 0.5854 0.3198 0.1557 0.2244 0.3201 0.2666 0.3768 0.3675 0.1656 0.5963 0.3144 0.1541 0.2363 het 1899.95 138 2 107450589 . C T 1899.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.909;DP=138;DS;Dels=0.00;FS=2.614;HRun=0;HaplotypeScore=4.9834;MQ=59.36;MQ0=0;MQRankSum=-0.573;QD=13.77;ReadPosRankSum=0.441;VQSLOD=5.3413;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,70:138:99:1930,0,1632 2 107459974 107459974 C T exonic ST6GAL2 nonsynonymous SNV ST6GAL2:NM_001142351:exon2:c.G460A:p.G154R,ST6GAL2:NM_001142352:exon2:c.G460A:p.G154R,ST6GAL2:NM_001322362:exon2:c.G460A:p.G154R,ST6GAL2:NM_032528:exon2:c.G460A:p.G154R 0.14 0.15 0.15 0.14 0.1 0.16 0.1250 0.1539 0.2015 0.1194 0.2582 0.0830 0.1286 0.1717 0.1 0.15 0.074 0.087 0.057 rs3796110 COSM3723721;COSM3723720 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.311 0.140 T 0.055 0.213 B 0.005 0.104 B 0.826 0.069 N 1 0.090 P 0.885 0.217 L 2.53 0.309 T -1.48 0.377 N 0.033 0.013 -0.969 0.375 T 0.000 0.001 T . . . -0.378 0.063 0.438 0.855 0.154 0.074 0.133 N c -1.602 -1.595 0.105 0.165 0.646 0.450 0 -2.16 0.066 -1.363 0.027 -0.871 0.028 0.000 0.063 0.000 0.016 13.028 0.581 . . . 0.1310 0.1542 0.1990 0.0548 0.1182 0.2619 0.0803 0.1051 0.1704 0.1290 0.1480 0.1683 0.0464 0.1093 0.2576 0.0877 0.1568 het 4065.41 241 2 107459974 . C T 4065.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.806;DP=241;DS;Dels=0.00;FS=9.191;HRun=0;HaplotypeScore=6.5516;MQ=59.31;MQ0=0;MQRankSum=-0.372;QD=16.87;ReadPosRankSum=-0.160;VQSLOD=4.0480;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,123:241:99:3463,0,2927 2 108863767 108863767 A C exonic SULT1C3 synonymous SNV SULT1C3:NM_001008743:exon2:c.A117C:p.V39V,SULT1C3:NM_001320878:exon2:c.A117C:p.V39V 0.85 0.99 0.79 0.9 0.71 0.78 0.7716 0.9492 0.8219 0.9090 0.7495 0.7187 0.7583 0.7761 0.78 0.94 0.7 0.83 0.64 rs9308806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7650 0.9538 0.8069 0.7520 0.9017 0.7525 0.7089 0.7440 0.7738 0.7940 0.9454 0.7745 0.7517 0.9111 0.7466 0.7077 0.7729 het 1257.25 107 2 108863767 . A C 1257.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.555;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6453;MQ=58.42;MQ0=0;MQRankSum=0.826;QD=11.75;ReadPosRankSum=0.234;VQSLOD=5.3617;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1287,0,1279 2 108875198 108875198 G A exonic SULT1C3 nonsynonymous SNV SULT1C3:NM_001008743:exon6:c.G535A:p.G179R,SULT1C3:NM_001320878:exon6:c.G535A:p.G179R 0.35 0.31 0.39 0.68 0.19 0.21 0.2803 0.3003 0.4968 0.6973 0.2141 0.2087 0.2594 0.2162 0.23 0.29 0.19 0.3 0.16 rs2219078 COSM3757569;COSM3757568 1(large_intestine) . . . . . . . . . . . 0.005 0.632 D 1.0 0.899 D 1.0 0.971 D 0.002 0.387 N 0.000 0.506 P 4.005 0.969 H -2.23 0.871 D -7.78 0.959 D 0.393 0.452 -0.903 0.477 T 0.000 0.000 T . . . 5.295 0.716 25.7 0.999 0.937 0.885 0.482 D c 0.454 0.189 0.037 0.143 0.487 0.133 0 2.21 0.269 5.559 0.668 0.770 0.312 1.000 0.715 0.026 0.142 9.208 0.363 P-loop containing nucleoside triphosphate hydrolase|Sulfotransferase domain ENSG00000198203.5|ENSG00000237223.2|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000237223.2|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000196228.2|ENSG00000198203.5|ENSG00000225328.1|ENSG00000225328.1|ENSG00000237223.2|ENSG00000225328.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Stomach|Testis|Thyroid|Thyroid 0.2867 0.3023 0.4785 0.2908 0.6902 0.2183 0.1993 0.2611 0.2148 0.2619 0.2992 0.4199 0.2848 0.6973 0.2192 0.1956 0.2582 het 978.54 98 2 108875198 . G A 978.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.735;DP=98;Dels=0.00;FS=2.722;HRun=0;HaplotypeScore=1.8947;MQ=58.32;MQ0=0;MQRankSum=0.369;QD=9.99;ReadPosRankSum=-1.705;VQSLOD=5.2931;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,41:98:99:1009,0,1421 2 108875244 108875244 T C exonic SULT1C3 nonsynonymous SNV SULT1C3:NM_001008743:exon6:c.T581C:p.M194T,SULT1C3:NM_001320878:exon6:c.T581C:p.M194T 0.51 0.67 0.47 0.71 0.28 0.35 0.3916 0.6297 0.5495 0.7269 0.2862 0.2999 0.3653 0.3714 0.39 0.62 0.28 0.55 0.27 rs6722745 COSM3757571;COSM3757570 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.813 0.030 T 0.0 0.026 B 0.0 0.013 B 0.277 0.150 N 1 0.090 P -1.295 0.007 N 4.76 0.016 T 0.62 0.024 N 0.014 0.002 -1.064 0.107 T 0.000 0.000 T . . . -2.117 0.007 0.001 0.212 0.008 0.031 0.079 N c -1.756 -1.707 0.000 0.055 0.487 0.133 0 0.643 0.169 0.534 0.226 -2.680 0.002 0.000 0.063 0.000 0.016 1.878 0.030 P-loop containing nucleoside triphosphate hydrolase|Sulfotransferase domain ENSG00000198203.5|ENSG00000237223.2|ENSG00000198203.5|ENSG00000198203.5|ENSG00000198203.5|ENSG00000237223.2|ENSG00000196228.2|ENSG00000198203.5|ENSG00000225328.1|ENSG00000225328.1|ENSG00000225328.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Lung|Muscle_Skeletal|Nerve_Tibial|Stomach|Stomach|Stomach|Testis|Thyroid 0.3909 0.6370 0.5352 0.3760 0.7197 0.3001 0.2900 0.3494 0.3712 0.4080 0.6250 0.4833 0.3775 0.7224 0.2944 0.2756 0.3473 het 882.44 87 2 108875244 . T C 882.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.341;DP=87;Dels=0.00;FS=1.941;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=0.035;QD=10.14;ReadPosRankSum=0.192;VQSLOD=5.6422;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,37:87:99:912,0,1358 2 109099572 109099572 C G exonic GCC2 nonsynonymous SNV GCC2:NM_181453:exon12:c.C3400G:p.Q1134E 1. 1. 0.99 1. 0.99 1. 0.9912 0.9979 0.9954 1 0.9865 0.9879 0.9889 0.9949 0.99 1. 0.99 0.99 0.9 rs2718698 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.998 0.226 P -1.69 0.004 N 1.82 0.250 T 0.93 0.016 N 0.126 0.153 -0.930 0.442 T 0.000 0.000 T . . . 1.763 0.273 14.77 0.377 0.025 0.114 0.165 N c -0.839 -0.500 0.070 0.155 0.707 0.730 0 5.13 0.696 2.968 0.487 -0.398 0.063 1.000 0.715 0.855 0.357 16.155 0.814 . . . 0.9907 0.9980 0.9938 0.9995 1 0.9845 0.9868 0.9914 0.9945 0.9908 0.9967 0.9928 1 1 0.9860 0.9872 0.9908 hom 1478.10 50 2 109099572 . C G 1478.10 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;QD=29.56;VQSLOD=8.0189;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1511,114,0 2 109106381 109106381 A G exonic GCC2 synonymous SNV GCC2:NM_181453:exon18:c.A4140G:p.Q1380Q 0.46 0.17 0.59 0.89 0.38 0.39 0.4509 0.2188 0.6967 0.9194 0.4203 0.4053 0.4365 0.3732 0.34 0.22 0.41 0.32 0.39 rs12104502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4602 0.2119 0.6744 0.3940 0.9268 0.4138 0.4023 0.4144 0.3702 0.3941 0.2232 0.6340 0.3767 0.9351 0.4244 0.4150 0.3929 het 1395.48 86 2 109106381 . A G 1395.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.729;DP=86;Dels=0.00;FS=1.924;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;MQRankSum=0.411;QD=16.23;ReadPosRankSum=-1.276;VQSLOD=5.8712;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,52:86:99:1425,0,927 2 109389463 109389463 G A exonic RANBP2 synonymous SNV RANBP2:NM_006267:exon23:c.G8253A:p.E2751E 0.99 0.95 1. 1. 1. 1. 0.9959 0.9545 0.9987 1 1 0.9999 0.9989 0.9999 0.98 0.95 1. 1. 0.93 rs826580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9969 0.9576 0.9977 1 1 1 0.9999 0.9978 1.0000 0.9884 0.9595 0.9976 1 1 1 0.9999 0.9980 hom 1331.93 44 2 109389463 . G A 1331.93 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.11;MQ0=0;QD=30.27;VQSLOD=7.9323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1365,102,0 2 109414936 109414936 G T exonic CCDC138 nonsynonymous SNV CCDC138:NM_001351545:exon5:c.G614T:p.R205L,CCDC138:NM_001351548:exon5:c.G503T:p.R168L,CCDC138:NM_001351557:exon5:c.G614T:p.R205L,CCDC138:NM_001351561:exon5:c.G614T:p.R205L,CCDC138:NM_001303105:exon6:c.G629T:p.R210L,CCDC138:NM_001351544:exon6:c.G647T:p.R216L,CCDC138:NM_001351549:exon6:c.G629T:p.R210L,CCDC138:NM_001351551:exon6:c.G629T:p.R210L,CCDC138:NM_001351553:exon6:c.G647T:p.R216L,CCDC138:NM_001351554:exon6:c.G647T:p.R216L,CCDC138:NM_001351555:exon6:c.G629T:p.R210L,CCDC138:NM_001351559:exon6:c.G629T:p.R210L,CCDC138:NM_144978:exon6:c.G629T:p.R210L . . . . . . 8.249e-06 0 0 0 0 1.501e-05 0 0 0.0001 . 0.0001 . . rs147076589 . . . . . . . . . . . . . 0.174 0.225 T 0.302 0.308 B 0.065 0.318 B 0.977 0.081 N 1 0.090 N 2.42 0.702 M -2.71 0.906 D -2.93 0.632 D 0.288 0.360 -0.881 0.497 T 0.141 0.461 T 0.047 0.630 D 1.406 0.232 12.82 0.957 0.271 0.057 0.114 N c -0.832 -0.954 0.999 0.386 0.563 0.310 0 -3.58 0.043 -0.076 0.113 -0.692 0.038 0.000 0.063 0.920 0.395 13.527 0.609 . . . 8.126e-06 0 0 0 0 0 1.791e-05 0 0 . . . . . . . . het 877.52 65 2 109414936 . G T 877.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.756;DP=65;Dels=0.00;FS=8.863;HRun=6;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-0.245;QD=13.50;ReadPosRankSum=1.080;VQSLOD=3.0899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,37:65:99:908,0,781 2 109429146 109429146 T A exonic CCDC138 synonymous SNV CCDC138:NM_001351545:exon7:c.T900A:p.A300A,CCDC138:NM_001351548:exon7:c.T789A:p.A263A,CCDC138:NM_001351557:exon7:c.T900A:p.A300A,CCDC138:NM_001351561:exon7:c.T900A:p.A300A,CCDC138:NM_001303105:exon8:c.T915A:p.A305A,CCDC138:NM_001351544:exon8:c.T933A:p.A311A,CCDC138:NM_001351549:exon8:c.T915A:p.A305A,CCDC138:NM_001351551:exon8:c.T912A:p.A304A,CCDC138:NM_001351553:exon8:c.T933A:p.A311A,CCDC138:NM_001351554:exon8:c.T930A:p.A310A,CCDC138:NM_001351555:exon8:c.T912A:p.A304A,CCDC138:NM_001351559:exon8:c.T915A:p.A305A,CCDC138:NM_144978:exon8:c.T915A:p.A305A 0.61 0.22 0.78 0.89 0.76 0.6 0.7278 0.2927 0.8510 0.9037 0.8154 0.7611 0.7450 0.6524 0.61 0.31 0.76 0.54 0.82 rs975597 COSM4001127 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7417 0.2825 0.8437 0.7558 0.9078 0.8092 0.7566 0.7416 0.6580 0.6432 0.2921 0.8333 0.7053 0.9363 0.8018 0.7611 0.7291 hom 6632.08 229 2 109429146 . T A 6632.08 Mask AC=2;AF=1.00;AN=2;DP=229;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8570;MQ=58.89;MQ0=0;QD=28.96;VQSLOD=7.7985;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:6631,524,0 2 109513654 109513654 G A exonic EDAR synonymous SNV EDAR:NM_022336:exon12:c.C1056T:p.C352C 0.71 0.35 0.84 0.95 0.84 0.73 0.8103 0.4325 0.9027 0.9604 0.8876 0.8382 0.8221 0.7537 0.7 0.44 0.83 0.65 0.82 rs12623957 . . Uncertain significance|Benign|Benign not_provided|not_specified|Hypohidrotic_Ectodermal_Dysplasia\x2c_Dominant RCV000143982.1|RCV000150610.3|RCV000269800.1 MedGen|MedGen|MedGen CN221809|CN169374|CN239335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8218 0.4250 0.8953 0.8881 0.9640 0.8796 0.8319 0.8240 0.7567 0.7390 0.4424 0.8831 0.8609 0.9777 0.8830 0.8360 0.8221 hom 3427.87 111 2 109513654 . G A 3427.87 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=30.88;VQSLOD=9.6173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3427,283,0 2 109526969 109526969 G A exonic EDAR synonymous SNV EDAR:NM_022336:exon9:c.C750T:p.S250S 0.92 0.88 0.93 0.99 0.91 0.92 0.9170 0.8828 0.9511 0.9983 0.9096 0.9052 0.9152 0.9223 0.9 0.88 0.9 0.92 0.91 rs260632 COSM3766485;COSM3766486 1(liver) Uncertain significance|Benign|Benign not_provided|not_specified|Hypohidrotic_Ectodermal_Dysplasia\x2c_Dominant RCV000143987.1|RCV000150611.2|RCV000285005.1 MedGen|MedGen|MedGen CN221809|CN169374|CN239335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9188 0.8825 0.9529 0.9441 0.9987 0.8994 0.9025 0.9147 0.9205 0.9016 0.8816 0.9451 0.9305 0.9988 0.9044 0.8988 0.9059 hom 1169.85 38 2 109526969 . G A 1169.85 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.79;VQSLOD=14.0777;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:90.29:1203,90,0 2 110373197 110373197 G A exonic SOWAHC synonymous SNV SOWAHC:NM_023016:exon1:c.G1131A:p.K377K 0.32 0.25 0.47 0.39 0.26 0.31 0.2913 0.2801 0.5497 0.3960 0.1673 0.2425 0.2688 0.3101 0.26 0.27 0.25 0.25 0.23 rs1560884 COSM3757578 1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2986 0.2727 0.5299 0.2841 0.4018 0.1697 0.2412 0.2882 0.3098 0.2553 0.2689 0.5107 0.2947 0.4112 0.1686 0.2365 0.2429 het 997.56 72 2 110373197 . G A 997.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DP=72;Dels=0.00;FS=2.120;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.177;QD=13.85;ReadPosRankSum=0.479;VQSLOD=6.0590;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,36:72:99:1028,0,947 2 110922703 110922703 C T exonic NPHP1 synonymous SNV NPHP1:NM_001128179:exon5:c.G468A:p.E156E,NPHP1:NM_000272:exon7:c.G654A:p.E218E,NPHP1:NM_001128178:exon7:c.G654A:p.E218E,NPHP1:NM_207181:exon7:c.G654A:p.E218E 0.47 0.51 0.42 0.59 0.3 0.53 0.3793 0.4899 0.3489 0.5961 0.2347 0.3226 0.3778 0.5047 0.38 0.49 0.32 0.5 0.31 rs11675767 COSM5653856 1(haematopoietic_and_lymphoid_tissue) other|Benign|Benign|Benign not_specified|Joubert_syndrome|Renal_dysplasia_and_retinal_aplasia|Nephronophthisis RCV000078490.10|RCV000313743.1|RCV000367290.1|RCV000400518.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004|CN117960:ORPHA3156:236531005|C0687120:204958008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3736 0.4936 0.3621 0.3289 0.5965 0.2266 0.3257 0.3475 0.5005 0.3675 0.4870 0.3421 0.35 0.5825 0.2305 0.3127 0.3018 hom 4185.73 143 2 110922703 . C T 4185.73 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8057;MQ=59.45;MQ0=0;QD=29.27;VQSLOD=8.5946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:143:99:4185,319,0 2 111562875 111562875 C T exonic ACOXL nonsynonymous SNV ACOXL:NM_001142807:exon9:c.C656T:p.S219L 0.011 0.003 0.025 . 0.03 0.0031 0.0218 0.0062 0.0098 0.0001 0.0159 0.0333 0.0231 0.0071 0.026 0.0089 0.035 . 0.082 rs77331476 . . . . . . . . . . . . . 0.025 0.555 D 0.992 0.670 D 0.619 0.535 P 0.000 0.629 N 0.949 0.376 D 2.09 0.581 M -3.41 0.943 D -5.27 0.841 D 0.197 0.465 0.214 0.862 D 0.499 0.811 T . . . 5.407 0.733 26.0 0.994 0.613 0.466 0.275 N c 0.021 -0.036 1.000 0.747 0.672 0.522 0 4.94 0.645 2.596 0.456 0.069 0.176 0.948 0.327 0.066 0.174 12.792 0.567 Acyl-CoA dehydrogenase/oxidase\x2c N-terminal and middle domain . . 0.0219 0.0051 0.0130 0.0129 0.0001 0.0183 0.0356 0.0244 0.0078 0.0236 0.0077 0.0131 0.0132 0 0.0198 0.0376 0.0173 het 2455.61 197 2 111562875 . C T 2455.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.377;DP=197;Dels=0.00;FS=3.332;HRun=2;HaplotypeScore=1.6640;MQ=59.48;MQ0=0;MQRankSum=1.302;QD=12.47;ReadPosRankSum=-0.822;VQSLOD=5.6539;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:108,89:197:99:2486,0,2750 2 111907691 111907691 T C exonic BCL2L11 synonymous SNV BCL2L11:NM_001204106:exon3:c.T195C:p.I65I,BCL2L11:NM_001204107:exon3:c.T195C:p.I65I,BCL2L11:NM_001204108:exon3:c.T465C:p.I155I,BCL2L11:NM_001204110:exon3:c.T195C:p.I65I,BCL2L11:NM_138621:exon3:c.T465C:p.I155I,BCL2L11:NM_138622:exon3:c.T465C:p.I155I,BCL2L11:NM_207003:exon3:c.T195C:p.I65I,BCL2L11:NM_006538:exon4:c.T285C:p.I95I,BCL2L11:NM_138623:exon4:c.T285C:p.I95I 0.69 0.8 0.5 0.85 0.67 0.54 0.6562 0.7927 0.4213 0.8680 0.6623 0.6746 0.6399 0.5471 0.71 0.79 0.67 0.71 0.67 rs724710 COSM5652934;COSM5652933;COSM5652932 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6431 0.7971 0.4340 0.6126 0.8738 0.6542 0.6767 0.6268 0.5484 0.7095 0.7850 0.4713 0.5762 0.8717 0.6500 0.6828 0.6337 het 700.42 82 2 111907691 . T C 700.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.850;DP=82;Dels=0.00;FS=0.924;HRun=0;HaplotypeScore=1.7333;MQ=60.00;MQ0=0;MQRankSum=-0.256;QD=8.54;ReadPosRankSum=-1.599;VQSLOD=5.6144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,33:82:99:730,0,1244 2 112686988 112686988 G A exonic MERTK nonsynonymous SNV MERTK:NM_006343:exon2:c.G353A:p.S118N 0.17 0.022 0.18 0.17 0.29 0.23 0.2313 0.0613 0.1439 0.1338 0.2079 0.2904 0.2291 0.2216 0.22 0.07 0.3 0.16 0.25 rs13027171 COSM4001134 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000081390.4|RCV000362037.1 MedGen|MedGen CN169374|CN239466 . . . . . . 0.714 0.040 T 0.001 0.067 B 0.001 0.040 B 0.620 0.108 N 1 0.313 P 0.495 0.134 N -0.34 0.685 T -0.15 0.093 N 0.003 0.000 -1.025 0.220 T 0.000 0.000 T . . . -1.221 0.024 0.006 0.578 0.057 0.005 0.022 N c -1.456 -1.467 0.494 0.209 0.707 0.730 0 -3.98 0.038 -0.330 0.079 0.130 0.216 0.001 0.137 0.569 0.283 11.622 0.502 Immunoglobulin|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000144152.8|ENSG00000153208.12|ENSG00000153214.5|ENSG00000153214.5|ENSG00000153208.12|ENSG00000153214.5|ENSG00000153208.12|ENSG00000144152.8 Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.2311 0.0560 0.1527 0.2902 0.1396 0.2028 0.2945 0.2582 0.2215 0.1977 0.0645 0.1791 0.3212 0.1420 0.2009 0.2780 0.2133 het 1633.38 143 2 112686988 . G A 1633.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.206;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5518;MQ=58.99;MQ0=0;MQRankSum=-0.743;QD=11.42;ReadPosRankSum=-0.470;VQSLOD=6.3637;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,62:143:99:1663,0,2195 2 112751928 112751928 G A exonic MERTK nonsynonymous SNV MERTK:NM_006343:exon9:c.G1397A:p.R466K 0.56 0.67 0.6 0.28 0.62 0.62 0.5972 0.6548 0.6560 0.2422 0.6642 0.6182 0.6057 0.5929 0.63 0.65 0.63 0.6 0.64 rs7604639 COSM3736212;COSM4418611 4(haematopoietic_and_lymphoid_tissue);1(skin) Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000397330.1 MedGen CN239466 . . . . . . 1.0 0.026 T 0.0 0.026 B 0.0 0.013 B 0.060 0.223 N 1 0.090 P -1.685 0.004 N 0.65 0.527 T 0.86 0.020 N 0.04 0.020 -0.967 0.378 T 0.000 0.000 T . . . -1.256 0.023 0.005 0.475 0.038 0.002 0.014 N c -1.660 -1.635 0.816 0.244 0.706 0.609 0 -3.17 0.049 -1.643 0.021 0.244 0.267 0.000 0.063 0.328 0.242 12.562 0.555 Fibronectin type III|Immunoglobulin-like fold ENSG00000153214.5|ENSG00000153208.12|ENSG00000169629.7|ENSG00000153214.5|ENSG00000169629.7 Adipose_Visceral_Omentum|Adrenal_Gland|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Whole_Blood 0.5983 0.6474 0.6440 0.6330 0.2481 0.6683 0.6160 0.6260 0.5894 0.6217 0.6596 0.6340 0.6887 0.2466 0.6623 0.6294 0.6107 hom 7661.86 239 2 112751928 . G A 7661.86 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.818;DP=239;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1757;MQ=59.13;MQ0=0;MQRankSum=-0.192;QD=32.06;ReadPosRankSum=1.020;VQSLOD=6.8235;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:3,236:239:99:7625,572,0 2 112754943 112754943 C T exonic MERTK synonymous SNV MERTK:NM_006343:exon10:c.C1494T:p.N498N 0.19 0.1 0.19 0.17 0.29 0.23 0.2385 0.1366 0.1464 0.1329 0.2080 0.2912 0.2324 0.2223 0.25 0.15 0.3 0.21 0.26 rs3811634 . . Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000296979.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . -1.042 0.166 T 0.000 0.000 T . . . 1.865 0.285 15.37 0.617 0.066 0.033 0.083 N c -0.338 -0.428 0.004 0.102 0.707 0.730 0 1.35 0.210 -0.352 0.077 -0.332 0.074 0.000 0.063 0.913 0.390 9.338 0.370 . ENSG00000144152.8|ENSG00000153208.12|ENSG00000153214.5|ENSG00000153214.5|ENSG00000153208.12|ENSG00000153214.5|ENSG00000153208.12|ENSG00000144152.8 Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.2371 0.1335 0.1569 0.2912 0.1387 0.2028 0.2955 0.2638 0.2224 0.2198 0.1394 0.1878 0.3278 0.1413 0.2022 0.2791 0.2153 het 3160.75 248 2 112754943 . C T 3160.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.930;DP=248;DS;Dels=0.00;FS=3.041;HRun=0;HaplotypeScore=2.7869;MQ=59.26;MQ0=0;MQRankSum=0.713;QD=12.74;ReadPosRankSum=1.472;VQSLOD=6.1912;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:138,110:248:99:3191,0,3377 2 112755001 112755001 A G exonic MERTK nonsynonymous SNV MERTK:NM_006343:exon10:c.A1552G:p.I518V 0.56 0.67 0.6 0.28 0.63 0.62 0.5973 0.6548 0.6562 0.2425 0.6641 0.6184 0.6057 0.5930 0.63 0.65 0.63 0.62 0.63 rs2230515 COSM4132997;COSM3736213 3(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid);1(large_intestine) Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000354460.1 MedGen CN239466 . . . . . . 0.795 0.045 T 0.001 0.067 B 0.001 0.040 B 0.403 0.131 N 1 0.090 P -0.085 0.047 N -0.81 0.740 T 0.03 0.070 N 0.021 0.006 -0.960 0.391 T 0.000 0.000 T . . . -1.806 0.011 0.002 0.171 0.005 0.006 0.027 N c -1.538 -1.485 0.006 0.111 0.707 0.730 0 -2.03 0.069 -0.677 0.053 -0.675 0.039 0.000 0.063 0.431 0.259 12.157 0.532 . ENSG00000153214.5|ENSG00000153208.12|ENSG00000169629.7|ENSG00000153214.5|ENSG00000169629.7 Adipose_Visceral_Omentum|Adrenal_Gland|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Whole_Blood 0.5984 0.6474 0.6442 0.6332 0.2481 0.6683 0.6162 0.6259 0.5894 0.6218 0.6603 0.6340 0.6887 0.2469 0.6620 0.6290 0.6100 hom 5020.21 146 2 112755001 . A G 5020.21 Mask AC=2;AF=1.00;AN=2;DP=146;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1815;MQ=60.00;MQ0=0;QD=34.39;VQSLOD=7.1157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:5020,400,0 2 112765973 112765973 A G exonic MERTK synonymous SNV MERTK:NM_006343:exon14:c.A1881G:p.S627S 0.52 0.5 0.6 0.27 0.62 0.62 0.5825 0.5129 0.6478 0.2413 0.6639 0.6164 0.5991 0.5885 0.59 0.52 0.62 0.54 0.61 rs1131244 COSM4416817;COSM4001138 3(haematopoietic_and_lymphoid_tissue) Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000367099.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5864 0.5040 0.6345 0.6325 0.2472 0.6681 0.6140 0.6193 0.5852 0.5805 0.5181 0.6223 0.6887 0.2469 0.6615 0.6273 0.6090 hom 2291.14 85 2 112765973 . A G 2291.14 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=26.95;VQSLOD=8.3437;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:85:99:2324,187,0 2 112832536 112832538 AAT - exonic TMEM87B nonframeshift deletion TMEM87B:NM_001329914:exon5:c.498_500del:p.M167del,TMEM87B:NM_032824:exon5:c.498_500del:p.M167del 0.26 0.21 0.3 0.18 0.4 0.23 0.3074 0.2251 0.2327 0.1456 0.2651 0.3816 0.3216 0.2166 0.33 0.21 0.39 0.21 0.21 rs71385858 COSM5713065 3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3018 0.2053 0.2329 0.4040 0.1464 0.2519 0.3800 0.3388 0.2110 0.2968 0.2189 0.2888 0.4470 0.1463 0.2661 0.3643 0.2800 hom 3292.36 60 2 112832535 . CAAT C 3292.36 Mask AC=2;AF=1.00;AN=2;DP=60;FS=0.000;HRun=0;HaplotypeScore=263.4053;MQ=55.23;MQ0=0;QD=54.87;set=variant2 GT:AD:DP:GQ:PL 1/1:0,60:60:99:3292,181,0 2 113089267 113089267 T C exonic ZC3H6 synonymous SNV ZC3H6:NM_198581:exon12:c.T2772C:p.N924N 0.73 0.97 0.65 0.74 0.55 0.61 0.5962 0.9140 0.6169 0.7739 0.5871 0.5208 0.5895 0.6088 0.64 0.9 0.52 0.78 . rs7601200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5933 0.9192 0.6255 0.4500 0.7754 0.5852 0.5230 0.5680 0.6042 0.6576 0.9023 0.5870 0.4768 0.7847 0.5894 0.5291 0.5917 het 1047.53 73 2 113089267 . T C 1047.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.518;DP=73;Dels=0.00;FS=0.961;HRun=0;HaplotypeScore=3.6618;MQ=58.52;MQ0=0;MQRankSum=2.334;QD=14.35;ReadPosRankSum=-0.690;VQSLOD=5.1873;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,36:73:99:1078,0,985 2 113090047 113090047 T C exonic ZC3H6 synonymous SNV ZC3H6:NM_198581:exon12:c.T3552C:p.T1184T 0.72 0.97 0.65 0.74 0.55 0.62 0.5980 0.9071 0.6154 0.7762 0.5855 0.5231 0.6012 0.6260 0.65 0.9 0.54 0.78 . rs4578863 COSM4133000 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5939 0.9131 0.6257 0.4542 0.7763 0.5857 0.5237 0.5687 0.6060 0.6559 0.8969 0.5827 0.4768 0.7859 0.5893 0.5289 0.5898 het 1704.51 188 2 113090047 . T C 1704.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.570;DP=188;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5317;MQ=59.06;MQ0=0;MQRankSum=-1.280;QD=9.07;ReadPosRankSum=-0.094;VQSLOD=5.8242;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:112,76:188:99:1735,0,3004 2 113277949 113277949 T C exonic TTL synonymous SNV TTL:NM_153712:exon6:c.T966C:p.D322D 0.18 0.12 0.094 0.28 0.21 0.22 0.1783 0.1173 0.0815 0.3051 0.3060 0.1693 0.1828 0.2035 0.15 0.13 0.16 0.18 0.11 rs62157538 COSM1398862 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1776 0.1168 0.0892 0.1444 0.2972 0.2997 0.1671 0.1772 0.1976 0.1866 0.1177 0.1134 0.1159 0.3106 0.3009 0.1889 0.2383 het 1398.06 127 2 113277949 . T C 1398.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.503;DP=127;Dels=0.00;FS=4.095;HRun=0;HaplotypeScore=2.8871;MQ=59.67;MQ0=0;MQRankSum=-1.956;QD=11.01;ReadPosRankSum=0.288;VQSLOD=4.5472;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,57:127:99:1428,0,2089 2 113308516 113308516 T A exonic POLR1B synonymous SNV POLR1B:NM_001282776:exon2:c.T66A:p.T22T,POLR1B:NM_001137604:exon4:c.T531A:p.T177T,POLR1B:NM_001282774:exon5:c.T699A:p.T233T,POLR1B:NM_001282779:exon5:c.T282A:p.T94T,POLR1B:NM_019014:exon5:c.T699A:p.T233T,POLR1B:NM_001282772:exon6:c.T813A:p.T271T,POLR1B:NM_001282777:exon6:c.T282A:p.T94T 0.55 0.5 0.56 0.4 0.69 0.64 0.6505 0.5524 0.5269 0.3504 0.5991 0.7262 0.6608 0.6701 0.68 0.56 0.74 0.61 0.74 rs2304555 COSM4001141;COSM4001142 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6448 0.5516 0.5272 0.7631 0.3468 0.6044 0.7269 0.6694 0.6752 0.6296 0.5558 0.5622 0.7848 0.3475 0.6051 0.7085 0.6429 het 2544.91 201 2 113308516 . T A 2544.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.043;DP=201;Dels=0.00;FS=1.780;HRun=0;HaplotypeScore=4.9206;MQ=59.37;MQ0=0;MQRankSum=0.335;QD=12.66;ReadPosRankSum=0.849;VQSLOD=4.9043;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,92:201:99:2575,0,2781 2 113309473 113309473 C T exonic POLR1B nonsynonymous SNV POLR1B:NM_001282776:exon3:c.C251T:p.S84L,POLR1B:NM_001137604:exon5:c.C716T:p.S239L,POLR1B:NM_001282774:exon6:c.C884T:p.S295L,POLR1B:NM_001282779:exon6:c.C467T:p.S156L,POLR1B:NM_019014:exon6:c.C884T:p.S295L,POLR1B:NM_001282772:exon7:c.C998T:p.S333L,POLR1B:NM_001282777:exon7:c.C467T:p.S156L 0.45 0.34 0.5 0.4 0.57 0.47 0.5229 0.4126 0.4655 0.3491 0.4755 0.5847 0.5374 0.4919 0.54 0.42 0.6 0.47 0.57 rs1545133 COSM4001144;COSM4001143 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.358 0.132 T 0.0 0.144 B 0.001 0.112 B 0.714 0.100 N 1.000 0.090 P -0.09 0.047 N 0.04 0.621 T -0.39 0.138 N 0.052 0.059 -0.931 0.439 T 0.000 0.000 T . . . 1.260 0.216 12.06 0.772 0.114 0.093 0.149 N c -1.367 -1.278 0.000 0.058 0.707 0.730 0 -2.63 0.057 -0.084 0.111 -1.867 0.006 0.000 0.063 0.105 0.191 5.574 0.164 RNA polymerase Rpb2\x2c domain 2|RNA polymerase\x2c beta subunit\x2c protrusion;RNA polymerase\x2c beta subunit\x2c protrusion ENSG00000169629.7|ENSG00000169629.7|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000169629.7|ENSG00000169629.7|ENSG00000169629.7|ENSG00000125630.11|ENSG00000125630.11|ENSG00000114999.7|ENSG00000169629.7|ENSG00000125630.11|ENSG00000169629.7|ENSG00000125611.11|ENSG00000169629.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood 0.5223 0.4099 0.4613 0.6233 0.3455 0.4832 0.5873 0.5479 0.4992 0.5026 0.4207 0.5060 0.6490 0.3490 0.4764 0.5690 0.5133 het 1946.14 167 2 113309473 . C T 1946.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.773;DP=167;Dels=0.00;FS=1.962;HRun=2;HaplotypeScore=5.4836;MQ=59.00;MQ0=0;MQRankSum=0.649;QD=11.65;ReadPosRankSum=0.464;VQSLOD=5.4518;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,74:167:99:1976,0,2307 2 113404708 113404708 G A exonic SLC20A1 synonymous SNV SLC20A1:NM_005415:exon2:c.G303A:p.L101L 0.36 0.16 0.45 0.22 0.55 0.52 0.4920 0.2051 0.4897 0.2092 0.5789 0.5662 0.5221 0.4859 0.44 0.21 0.56 0.41 0.5 rs4849091 COSM4001145 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4946 0.1956 0.4801 0.5379 0.2116 0.5684 0.5656 0.5294 0.4895 0.4369 0.1999 0.4952 0.5232 0.1988 0.5664 0.5585 0.5347 het 1128.41 107 2 113404708 . G A 1128.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.994;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;MQRankSum=-0.047;QD=10.55;ReadPosRankSum=-2.024;VQSLOD=5.9682;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,47:107:99:1158,0,1638 2 113498566 113498566 A G exonic CKAP2L nonsynonymous SNV CKAP2L:NM_001304361:exon8:c.T1346C:p.L449S,CKAP2L:NM_152515:exon8:c.T1841C:p.L614S 0.42 0.056 0.55 0.69 0.51 0.46 0.4926 0.1180 0.6310 0.6874 0.5540 0.5079 0.4956 0.4428 0.38 0.13 0.5 0.36 0.48 rs3811040 COSM3757580 1(bone);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.933 0.022 T 0.009 0.192 B 0.007 0.212 B 0.145 0.029 N 1 0.090 P 1.04 0.263 L 2.06 0.205 T 0.75 0.020 N 0.021 0.067 -0.976 0.360 T 0.000 0.000 T . . . -0.066 0.088 2.000 0.746 0.104 0.018 0.057 N c -1.179 -1.167 0.997 0.354 0.707 0.730 0 -0.529 0.113 -0.156 0.100 0.223 0.255 0.000 0.063 0.503 0.271 7.213 0.250 Cytoskeleton-associated protein 2\x2c C-terminal ENSG00000144130.7 Testis 0.5028 0.1123 0.6136 0.4926 0.6846 0.5489 0.5028 0.5024 0.4443 0.4088 0.1259 0.5935 0.4834 0.6850 0.5501 0.4953 0.4612 hom 5512.27 177 2 113498566 . A G 5512.27 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1907;MQ=59.16;MQ0=0;QD=31.14;VQSLOD=8.0648;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,176:177:99:5512,421,0 2 113513825 113513825 T C exonic CKAP2L nonsynonymous SNV CKAP2L:NM_001304361:exon4:c.A628G:p.I210V,CKAP2L:NM_152515:exon4:c.A1123G:p.I375V 0.96 0.93 0.96 1. 0.95 0.98 0.9622 0.9250 0.9761 1 0.9781 0.9552 0.9537 0.9786 0.94 0.93 0.95 0.99 0.95 rs6731822 . . . . . . . . . . . . . 0.413 0.100 T 0.002 0.090 B 0.002 0.063 B 0.107 0.026 N 1 0.090 P 0.895 0.225 L 3.31 0.063 T 0.04 0.065 N 0.003 0.003 -0.957 0.398 T 0.000 0.000 T . . . -3.223 0.001 0.001 0.212 0.008 0.013 0.044 N c -1.537 -1.688 1.000 0.747 0.719 0.830 0 -7.88 0.010 -2.573 0.010 -0.753 0.034 0.000 0.063 0.001 0.043 9.727 0.393 . . . 0.9627 0.9257 0.9731 0.9597 0.9999 0.9795 0.9523 0.9575 0.9765 0.9532 0.9269 0.9809 0.9536 1 0.9736 0.9565 0.9623 hom 6034.03 192 2 113513825 . T C 6034.03 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9721;MQ=59.49;MQ0=0;QD=31.43;VQSLOD=8.9271;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:6033,499,0 2 113674709 113674709 C G exonic IL37 nonsynonymous SNV IL37:NM_173202:exon2:c.C86G:p.P29R,IL37:NM_173205:exon2:c.C71G:p.P24R,IL37:NM_014439:exon3:c.C149G:p.P50R 0.076 0.17 0.059 0.001 0.081 0.029 0.0712 0.1711 0.0407 0.0001 0.0727 0.0798 0.0719 0.0316 0.11 0.17 0.08 0.12 0.074 rs2708943 . . . . . . . . . . . . . 0.078 0.614 T 0.919 0.539 P 0.504 0.471 P . . . 1 0.090 P 0.895 0.225 L 0.52 0.553 T -1.73 0.571 N 0.19 0.232 -1.104 0.037 T 0.001 0.002 T . . . 2.481 0.359 19.34 0.993 0.583 0.047 0.102 N c -0.550 -0.757 0.001 0.076 0.487 0.133 0 0.99 0.188 -0.117 0.106 0.786 0.318 0.000 0.063 0.163 0.208 4.875 0.129 . ENSG00000227368.1 Skin_Sun_Exposed_Lower_leg 0.0680 0.1709 0.0423 0.0686 0.0001 0.0688 0.0820 0.0635 0.0324 0.1008 0.1742 0.0537 0.0728 0 0.0733 0.0804 0.0743 het 1434.04 101 2 113674709 . C G 1434.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.793;DP=101;Dels=0.00;FS=6.428;HRun=0;HaplotypeScore=2.4203;MQ=58.56;MQ0=0;MQRankSum=0.215;QD=14.20;ReadPosRankSum=-1.047;VQSLOD=4.6744;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,55:101:99:1464,0,1163 2 113674721 113674721 A G exonic IL37 nonsynonymous SNV IL37:NM_173202:exon2:c.A98G:p.N33S,IL37:NM_173205:exon2:c.A83G:p.N28S,IL37:NM_014439:exon3:c.A161G:p.N54S 0.076 0.17 0.059 0.001 0.081 0.029 0.0712 0.1709 0.0407 0.0001 0.0727 0.0798 0.0717 0.0315 0.11 0.17 0.08 0.12 0.074 rs2723183 . . . . . . . . . . . . . 0.853 0.036 T 0.006 0.126 B 0.006 0.112 B 0.002 0.008 N 1 0.090 P 0.345 0.112 N 0.52 0.553 T -0.07 0.100 N 0.044 0.024 -1.083 0.068 T 0.000 0.001 T . . . -2.968 0.001 0.001 0.162 0.004 0.003 0.017 N c -1.836 -1.918 0.029 0.139 0.549 0.223 0 -4.93 0.028 -2.551 0.010 -1.107 0.018 0.000 0.063 0.000 0.016 0.761 0.009 . ENSG00000227368.1 Skin_Sun_Exposed_Lower_leg 0.0680 0.1707 0.0423 0.0686 0.0001 0.0687 0.0820 0.0635 0.0324 0.1008 0.1742 0.0537 0.0728 0 0.0733 0.0804 0.0743 het 1655.94 107 2 113674721 . A G 1655.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.338;DP=107;Dels=0.00;FS=7.660;HRun=0;HaplotypeScore=5.8888;MQ=58.65;MQ0=0;MQRankSum=0.172;QD=15.48;ReadPosRankSum=-1.531;VQSLOD=4.1388;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,59:107:99:1686,0,1160 2 113675269 113675269 C T exonic IL37 nonsynonymous SNV IL37:NM_173203:exon2:c.C140T:p.P47L,IL37:NM_173202:exon3:c.C260T:p.P87L,IL37:NM_173204:exon3:c.C203T:p.P68L,IL37:NM_173205:exon3:c.C245T:p.P82L,IL37:NM_014439:exon4:c.C323T:p.P108L 0.076 0.17 0.059 0.001 0.08 0.029 0.0721 0.1713 0.0404 0.0001 0.0727 0.0801 0.0727 0.0341 0.11 0.17 0.08 0.11 0.074 rs2723187 COSM3757586;COSM3757585 1(large_intestine) . . . . . . . . . . . 0.119 0.346 T 1.0 0.899 D 0.961 0.688 D 0.215 0.163 N 1 0.090 P 2.485 0.726 M 1.66 0.275 T -7.21 0.959 D 0.124 0.172 -1.094 0.049 T 0.000 0.002 T . . . 2.688 0.384 20.7 0.974 0.332 0.012 0.044 N c -0.349 -0.636 0.001 0.074 0.516 0.203 0 0.218 0.145 -0.283 0.084 0.786 0.318 0.000 0.063 0.007 0.100 2.793 0.050 . ENSG00000227368.1 Skin_Sun_Exposed_Lower_leg 0.0680 0.1703 0.0417 0.0689 0.0002 0.0686 0.0820 0.0631 0.0324 0.1006 0.1738 0.0537 0.0728 0 0.0730 0.0802 0.0745 het 3182.42 236 2 113675269 . C T 3182.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.986;DP=236;DS;Dels=0.00;FS=2.727;HRun=0;HaplotypeScore=5.9069;MQ=59.29;MQ0=0;MQRankSum=-0.426;QD=13.48;ReadPosRankSum=-0.985;VQSLOD=4.8711;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,108:236:99:3212,0,3226 2 113676219 113676219 T C exonic IL37 nonsynonymous SNV IL37:NM_173203:exon3:c.T307C:p.W103R,IL37:NM_173202:exon4:c.T427C:p.W143R,IL37:NM_173204:exon4:c.T370C:p.W124R,IL37:NM_173205:exon4:c.T412C:p.W138R,IL37:NM_014439:exon5:c.T490C:p.W164R 0.077 0.17 0.059 0.003 0.082 0.029 0.0712 0.1714 0.0407 0.0001 0.0728 0.0798 0.0716 0.0315 0.11 0.17 0.08 0.12 0.074 rs2708947 . . . . . . . . . . . . . 0.488 0.106 T 0.0 0.026 B 0.0 0.013 B 0.038 0.018 N 1 0.090 P -1.61 0.004 N 2.41 0.155 T 1.82 0.005 N 0.006 0.000 -1.002 0.293 T 0.000 0.000 T . . . -1.753 0.012 0.002 0.294 0.016 0.001 0.006 N c -2.035 -2.105 0.971 0.292 0.487 0.133 0 -7.62 0.011 -5.551 0.001 -0.658 0.040 0.000 0.063 0.009 0.108 1.197 0.017 . ENSG00000227368.1 Skin_Sun_Exposed_Lower_leg 0.0681 0.1712 0.0423 0.0685 0.0001 0.0688 0.0821 0.0635 0.0324 0.1005 0.1734 0.0537 0.0728 0 0.0733 0.0801 0.0745 het 519.60 61 2 113676219 . T C 519.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.812;DP=61;Dels=0.00;FS=3.594;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.317;QD=8.52;ReadPosRankSum=0.052;VQSLOD=5.8982;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,24:61:99:550,0,1034 2 113676381 113676381 G A exonic IL37 nonsynonymous SNV IL37:NM_173203:exon3:c.G469A:p.D157N,IL37:NM_173202:exon4:c.G589A:p.D197N,IL37:NM_173204:exon4:c.G532A:p.D178N,IL37:NM_173205:exon4:c.G574A:p.D192N,IL37:NM_014439:exon5:c.G652A:p.D218N 0.076 0.17 0.059 0.001 0.08 0.029 0.0719 0.1725 0.0405 0.0001 0.0726 0.0802 0.0724 0.0330 0.11 0.17 0.08 0.12 0.066 rs2723192 . . . . . . . . . . . . . 0.1 0.367 T 0.759 0.539 P 0.162 0.463 B 0.340 0.042 N 1 0.090 P 0.895 0.225 L 2.48 0.210 T -0.67 0.206 N 0.015 0.002 -1.048 0.148 T 0.000 0.000 T . . . 4.069 0.546 23.7 0.990 0.494 0.009 0.036 N c -0.663 -0.798 0.021 0.133 0.487 0.133 0 1.2 0.201 -0.118 0.106 0.726 0.305 0.000 0.063 0.026 0.142 5.076 0.139 . ENSG00000227368.1 Skin_Sun_Exposed_Lower_leg 0.0679 0.1705 0.0418 0.0688 0.0001 0.0687 0.0820 0.0629 0.0325 0.1005 0.1731 0.0537 0.0728 0 0.0733 0.0803 0.0743 het 1008.58 96 2 113676381 . G A 1008.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.621;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.69;MQ0=0;MQRankSum=-0.180;QD=10.51;ReadPosRankSum=0.849;VQSLOD=6.9457;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,44:96:99:1039,0,1287 2 113763575 113763575 A G exonic IL36A nonsynonymous SNV IL36A:NM_014440:exon2:c.A35G:p.Q12R 0.84 0.76 0.82 0.99 0.72 0.93 0.7869 0.7642 0.8593 0.9933 0.7893 0.7203 0.7878 0.9100 0.72 0.77 0.7 0.83 0.7 rs895497 COSM441014 1(liver) . . . . . . . . . . . 0.353 0.122 T 0.0 0.026 B 0.0 0.013 B 0.001 0.007 N 1 0.090 P 0.115 0.086 N 2.29 0.171 T -0.24 0.108 N 0.011 0.002 -0.993 0.318 T 0.000 0.000 T . . . -2.568 0.003 0.001 0.215 0.008 0.003 0.018 N c -2.522 -2.556 0.939 0.273 0.487 0.133 0 -7.62 0.011 -2.492 0.010 -2.731 0.002 0.000 0.063 0.000 0.016 0.754 0.009 . ENSG00000136696.6 Skin_Sun_Exposed_Lower_leg 0.7872 0.7640 0.8553 0.7227 0.9922 0.7830 0.7123 0.7666 0.9092 0.7553 0.7638 0.8401 0.7433 0.9950 0.7977 0.7099 0.7597 het 1976.13 196 2 113763575 . A G 1976.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.216;DP=196;Dels=0.00;FS=0.543;HRun=4;HaplotypeScore=5.2071;MQ=59.15;MQ0=0;MQRankSum=0.346;QD=10.08;ReadPosRankSum=1.015;VQSLOD=5.4399;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,81:196:99:2006,0,3068 2 113832312 113832312 T C exonic IL1F10 nonsynonymous SNV IL1F10:NM_032556:exon3:c.T131C:p.I44T,IL1F10:NM_173161:exon4:c.T131C:p.I44T 0.52 0.58 0.58 0.18 0.61 0.67 0.5642 0.5850 0.5626 0.1671 0.5553 0.5838 0.5363 0.6858 0.58 0.58 0.59 0.59 0.59 rs6761276 COSM5002053;COSM5002052 1(pancreas) . . . . . . . . . . . 0.036 0.433 D 0.728 0.406 P 0.297 0.392 B 0.017 0.278 N 0.769 0.294 P 2.325 0.668 M 1.92 0.231 T -2.44 0.534 N 0.073 0.062 -0.961 0.390 T 0.000 0.000 T . . . 3.486 0.477 23.1 0.994 0.618 0.241 0.221 N c -0.222 -0.169 0.880 0.256 0.497 0.185 0 3.93 0.445 1.036 0.296 1.061 0.807 0.047 0.211 0.983 0.502 7.900 0.287 . ENSG00000136696.6|ENSG00000136694.8|ENSG00000136695.10|ENSG00000125637.11|ENSG00000136696.6|ENSG00000136689.14 Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5612 0.5845 0.5630 0.5699 0.1689 0.5512 0.5830 0.5802 0.6897 0.5390 0.5787 0.5931 0.5667 0.1619 0.5513 0.5500 0.5438 het 2717.45 201 2 113832312 . T C 2717.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.771;DP=201;DS;Dels=0.00;FS=7.429;HRun=0;HaplotypeScore=9.0354;MQ=58.66;MQ0=0;MQRankSum=-0.920;QD=13.52;ReadPosRankSum=-1.389;VQSLOD=3.3429;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,101:201:99:2747,0,2645 2 113832333 113832333 C A exonic IL1F10 nonsynonymous SNV IL1F10:NM_032556:exon3:c.C152A:p.A51D,IL1F10:NM_173161:exon4:c.C152A:p.A51D 0.73 0.73 0.71 0.68 0.69 0.8 0.6931 0.7423 0.7302 0.6945 0.6540 0.6591 0.6828 0.7890 0.68 0.73 0.66 0.78 0.62 rs6743376 COSM5447929;COSM5447930 1(large_intestine) . . . . . Inflammatory biomarkers . .13 24182552 rs6743376 2E-26 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.175 0.173 N 1.000 0.090 P -2.48 0.001 N 2.36 0.161 T 3.17 0.001 N 0.031 0.018 -0.994 0.316 T 0.000 0.000 T . . . 1.268 0.217 12.10 0.451 0.035 0.026 0.071 N c -0.942 -0.654 0.749 0.233 0.497 0.185 0 3.91 0.442 2.127 0.414 0.242 0.267 0.939 0.324 0.977 0.480 5.787 0.175 . ENSG00000136696.6|ENSG00000136694.8|ENSG00000136695.10|ENSG00000136696.6 Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.6944 0.7456 0.7335 0.7104 0.6956 0.6507 0.6548 0.7085 0.7937 0.6634 0.7392 0.7410 0.6722 0.6884 0.6495 0.6170 0.6385 het 2218.42 181 2 113832333 . C A 2218.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.219;DP=181;DS;Dels=0.00;FS=10.301;HRun=0;HaplotypeScore=9.0120;MQ=58.96;MQ0=0;MQRankSum=-0.131;QD=12.26;ReadPosRankSum=1.299;VQSLOD=3.4484;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,85:181:99:2248,0,2494 2 113940681 113940681 T C exonic PSD4 synonymous SNV PSD4:NM_012455:exon2:c.T648C:p.S216S 0.58 0.74 0.52 0.6 0.44 0.5 0.4877 0.7003 0.5036 0.6134 0.5655 0.4248 0.5078 0.4984 0.5 0.69 0.41 0.64 0.43 rs3748914 COSM441019 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4809 0.7012 0.4969 0.3610 0.6109 0.5613 0.4154 0.4744 0.4980 0.5284 0.6928 0.5048 0.3867 0.5963 0.5680 0.4218 0.5071 het 784.47 73 2 113940681 . T C 784.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.947;DP=73;Dels=0.00;FS=2.145;HRun=0;HaplotypeScore=3.7587;MQ=58.53;MQ0=0;MQRankSum=-0.207;QD=10.75;ReadPosRankSum=-2.226;VQSLOD=4.5592;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,30:73:99:814,0,1255 2 113940839 113940839 G C exonic PSD4 nonsynonymous SNV PSD4:NM_012455:exon2:c.G806C:p.G269A 0.52 0.53 0.5 0.6 0.44 0.51 0.4705 0.5200 0.4954 0.6109 0.5638 0.4237 0.5011 0.4979 0.44 0.5 0.41 0.61 0.43 rs4849167 COSM4133014 1(thyroid) . . . . . . . . . . . 0.052 0.586 T 0.753 0.414 P 0.241 0.369 B 0.099 0.199 N 1.000 0.182 P 1.65 0.424 L 2.76 0.122 T -1.57 0.379 N 0.07 0.088 -1.014 0.256 T 0.000 0.000 T . . . 1.727 0.269 14.56 0.992 0.548 0.162 0.191 N c -0.587 -0.634 1.000 0.409 0.646 0.442 0 0.861 0.181 -0.134 0.103 0.135 0.219 0.013 0.187 0.782 0.331 5.162 0.143 . ENSG00000125618.12|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125618.12|ENSG00000125637.11|ENSG00000189223.9|ENSG00000125637.11|ENSG00000189223.9|ENSG00000189223.9|ENSG00000125618.12|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000189223.9|ENSG00000125618.12|ENSG00000125637.11|ENSG00000189223.9|ENSG00000125637.11|ENSG00000189223.9|ENSG00000125618.12|ENSG00000125637.11|ENSG00000125637.11|ENSG00000189223.9|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11|ENSG00000125637.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Vagina|Whole_Blood 0.4672 0.5188 0.4872 0.3583 0.6084 0.5608 0.4148 0.4677 0.4974 0.4775 0.5153 0.4916 0.3808 0.5958 0.5679 0.4213 0.5010 het 1653.82 125 2 113940839 . G C 1653.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.137;DP=125;Dels=0.00;FS=5.648;HRun=0;HaplotypeScore=2.9835;MQ=58.96;MQ0=0;MQRankSum=1.056;QD=13.23;ReadPosRankSum=-0.571;VQSLOD=5.3678;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,66:125:99:1684,0,1621 2 113943470 113943470 A G exonic PSD4 synonymous SNV PSD4:NM_012455:exon5:c.A1266G:p.G422G 0.58 0.74 0.52 0.6 0.45 0.51 0.5293 0.7130 0.5660 0.6365 0.6138 0.4711 0.5426 0.5264 0.51 0.69 0.42 0.66 0.16 rs2241976 COSM4133015 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4898 0.7017 0.5117 0.3670 0.6077 0.5792 0.4259 0.4841 0.5018 0.5384 0.6958 0.5239 0.3841 0.5916 0.5888 0.4341 0.5224 het 274.94 27 2 113943470 . A G 274.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.048;DP=27;Dels=0.00;FS=1.485;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.271;QD=10.18;ReadPosRankSum=-0.025;VQSLOD=6.0960;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:305,0,416 2 114709419 114709419 G A exonic ACTR3 synonymous SNV ACTR3:NM_001277140:exon10:c.G921A:p.L307L,ACTR3:NM_005721:exon10:c.G1074A:p.L358L 0.011 0.0008 0.022 . 0.035 0.0061 0.0282 0.0054 0.0190 0.0001 0.0372 0.0422 0.0396 0.0030 0.028 0.0075 0.039 0.011 0.025 rs34493552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0278 0.0050 0.0181 0.0383 5.798e-05 0.0402 0.0414 0.0335 0.0029 0.0311 0.0086 0.0286 0.0331 0 0.0441 0.0440 0.0397 het 545.32 59 2 114709419 . G A 545.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.741;DP=59;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=57.82;MQ0=0;MQRankSum=0.405;QD=9.24;ReadPosRankSum=0.664;VQSLOD=6.3424;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,26:59:99:575,0,812 2 116510817 116510817 G C exonic DPP10 nonsynonymous SNV DPP10:NM_001321913:exon9:c.G256C:p.A86P,DPP10:NM_001321909:exon10:c.G901C:p.A301P,DPP10:NM_001004360:exon11:c.G997C:p.A333P,DPP10:NM_001178034:exon11:c.G1030C:p.A344P,DPP10:NM_001178037:exon11:c.G1006C:p.A336P,DPP10:NM_001321907:exon11:c.G1018C:p.A340P,DPP10:NM_001321908:exon11:c.G928C:p.A310P,DPP10:NM_001321911:exon11:c.G868C:p.A290P,DPP10:NM_001321914:exon11:c.G256C:p.A86P,DPP10:NM_020868:exon11:c.G1018C:p.A340P,DPP10:NM_001178036:exon12:c.G868C:p.A290P,DPP10:NM_001321905:exon12:c.G1069C:p.A357P,DPP10:NM_001321906:exon12:c.G997C:p.A333P,DPP10:NM_001321910:exon12:c.G868C:p.A290P,DPP10:NM_001321912:exon12:c.G868C:p.A290P 0.53 0.16 0.73 0.73 0.63 0.58 0.6108 0.2205 0.7890 0.7197 0.7753 0.6154 0.6159 0.5907 0.48 0.23 0.61 0.45 0.61 rs2053724 . . . . . . . . . . . . . 0.498 0.114 T 0.01 0.182 B 0.002 0.104 B 0.002 0.367 N 1.000 0.199 P 0.49 0.133 N 1.6 0.286 T -2.15 0.540 N 0.063 0.048 -1.037 0.181 T 0.000 0.000 T . . . 2.363 0.345 18.58 0.977 0.350 0.502 0.284 D c -0.451 -0.297 0.000 0.012 0.638 0.428 0 3.2 0.357 2.114 0.413 0.067 0.174 1.000 0.715 0.994 0.587 17.145 0.866 Dipeptidylpeptidase IV\x2c N-terminal domain . . 0.6265 0.2092 0.7745 0.5965 0.7282 0.7656 0.6082 0.6254 0.5919 0.5364 0.2206 0.7236 0.5695 0.7344 0.7701 0.6261 0.6506 hom 2551.46 82 2 116510817 . G C 2551.46 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=31.12;VQSLOD=8.8759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2584,199,0 2 116525960 116525960 G A exonic DPP10 nonsynonymous SNV DPP10:NM_001321913:exon11:c.G439A:p.V147I,DPP10:NM_001321907:exon12:c.G1162A:p.V388I,DPP10:NM_001321909:exon12:c.G1084A:p.V362I,DPP10:NM_001004360:exon13:c.G1180A:p.V394I,DPP10:NM_001178034:exon13:c.G1213A:p.V405I,DPP10:NM_001178037:exon13:c.G1189A:p.V397I,DPP10:NM_001321908:exon13:c.G1111A:p.V371I,DPP10:NM_001321911:exon13:c.G1051A:p.V351I,DPP10:NM_001321914:exon13:c.G439A:p.V147I,DPP10:NM_020868:exon13:c.G1201A:p.V401I,DPP10:NM_001178036:exon14:c.G1051A:p.V351I,DPP10:NM_001321905:exon14:c.G1252A:p.V418I,DPP10:NM_001321906:exon14:c.G1180A:p.V394I,DPP10:NM_001321910:exon14:c.G1051A:p.V351I,DPP10:NM_001321912:exon14:c.G1051A:p.V351I 0.97 0.89 0.99 1. 1. 1. 0.9917 0.9087 0.9965 1 1 0.9998 0.9956 0.9999 0.97 0.91 1. 0.97 0.99 rs1446495 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.000 0.843 N 1.000 0.206 P -1.72 0.003 N 1.81 0.252 T 0.93 0.016 N 0.047 0.256 -0.957 0.398 T 0.000 0.000 T . . . 2.108 0.314 16.91 0.321 0.018 0.109 0.161 N c -0.713 -0.388 0.003 0.096 0.638 0.428 0 5.25 0.731 6.529 0.735 0.168 0.246 1.000 0.715 1.000 0.888 10.236 0.423 Dipeptidylpeptidase IV\x2c N-terminal domain . . 0.9934 0.9052 0.9963 1 1 1 0.9998 0.9973 0.9998 0.9748 0.9115 0.9964 1 1 1 0.9999 0.9959 hom 1766.72 64 2 116525960 . G A 1766.72 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=58.76;MQ0=0;QD=27.60;VQSLOD=7.6030;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1800,135,0 2 118578824 118578824 A G exonic DDX18 nonsynonymous SNV DDX18:NM_006773:exon4:c.A602G:p.N201S 0.0004 . . . 0.002 . 0.0007 0.0005 0.0005 0 0.0002 0.0011 0.0011 0 0.0012 0.0005 0.0015 . . rs41279756 . . . . . . . . . . . . . 0.726 0.038 T 0.0 0.026 B 0.0 0.013 B 0.005 0.334 N 0.938 0.268 N -0.33 0.035 N 4.61 0.019 T -0.89 0.240 N 0.045 0.025 -0.929 0.443 T 0.007 0.024 T 0.002 0.040 T 0.655 0.157 8.533 0.961 0.280 0.923 0.551 D c -0.346 -0.201 0.996 0.346 0.707 0.730 0 2.56 0.297 3.640 0.538 0.223 0.255 1.000 0.715 0.989 0.536 8.783 0.338 Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase|RNA helicase\x2c DEAD-box type\x2c Q motif . . 0.0007 0.0004 0.0008 0 0 0.0003 0.0012 0.0017 0 0.0008 0.0002 0.0012 0 0 0.0006 0.0012 0.0031 het 1493.43 80 2 118578824 . A G 1493.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.814;DP=80;Dels=0.00;FS=0.897;HRun=0;HaplotypeScore=1.7873;MQ=58.91;MQ0=0;MQRankSum=-0.180;QD=18.67;ReadPosRankSum=0.110;VQSLOD=4.9199;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,51:80:99:1523,0,697 2 118583940 118583940 C T exonic DDX18 synonymous SNV DDX18:NM_006773:exon11:c.C1617T:p.R539R 0.3 0.038 0.32 0.53 0.38 0.34 0.3657 0.0934 0.2983 0.5323 0.4076 0.3991 0.4139 0.3377 0.3 0.11 0.39 0.28 0.38 rs2303348 COSM3757595 1(bone);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3656 0.0812 0.3008 0.3326 0.5410 0.4203 0.3990 0.3697 0.3284 0.3037 0.0867 0.2873 0.34 0.5211 0.4064 0.3793 0.3614 hom 1392.72 45 2 118583940 . C T 1392.72 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=59.49;MQ0=0;QD=30.95;VQSLOD=8.8937;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1426,111,0 2 118771566 118771566 C A exonic CCDC93 synonymous SNV CCDC93:NM_019044:exon1:c.G6T:p.G2G 0.32 0.49 0.24 0.14 0.35 0.31 0.3494 0.4596 0.2668 0.1652 0.2989 0.3687 0.3472 0.3335 0.36 0.42 0.33 0.28 0.14 rs11545372 COSM1129600 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2876 0.4177 0.1785 0.3703 0.1225 0.2204 0.3304 0.3136 0.3058 0.3366 0.4253 0.2170 0.3146 0.1381 0.2349 0.3402 0.2969 hom 270.09 10 2 118771566 . C A 270.09 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.01;VQSLOD=13.0377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:303,24,0 2 119915249 119915249 T C exonic C1QL2 synonymous SNV C1QL2:NM_182528:exon1:c.A597G:p.V199V 0.59 0.58 0.77 0.36 0.71 0.57 0.6894 0.6033 0.7862 0.3743 0.6447 0.7445 0.6767 0.6358 0.71 0.62 0.75 0.63 0.75 rs7556873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6907 0.6028 0.7770 0.6489 0.3697 0.6512 0.7528 0.6931 0.6367 0.6817 0.6103 0.7458 0.6225 0.3905 0.6433 0.7599 0.7010 hom 2441.44 74 2 119915249 . T C 2441.44 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8661;MQ=59.38;MQ0=0;QD=32.99;VQSLOD=9.1285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2474,193,0 2 120060082 120060082 T C exonic C2orf76 nonsynonymous SNV C2orf76:NM_001322332:exon5:c.A296G:p.K99R,C2orf76:NM_001322330:exon6:c.A347G:p.K116R,C2orf76:NM_001322331:exon6:c.A347G:p.K116R,C2orf76:NM_001017927:exon7:c.A347G:p.K116R,C2orf76:NM_001322329:exon7:c.A347G:p.K116R 0.66 0.92 0.6 0.43 0.65 0.62 0.6632 0.8927 0.6147 0.4220 0.7488 0.6654 0.6481 0.6442 0.72 0.88 0.65 0.74 0.52 rs1052500 COSM4001160 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.553 0.065 T 0.0 0.026 B 0.0 0.013 B 0.028 0.257 N 0.998 0.222 P 0.41 0.124 N 1.52 0.307 T -0.51 0.160 N 0.09 0.088 -1.004 0.286 T 0.000 0.000 T . . . 0.399 0.132 6.603 0.905 0.192 0.590 0.305 D c -0.516 -0.346 0.758 0.235 0.706 0.609 0 1.12 0.196 0.887 0.277 1.061 0.807 1.000 0.715 0.999 0.750 9.049 0.353 . ENSG00000229867.1|ENSG00000115107.15|ENSG00000186132.10|ENSG00000229867.1|ENSG00000115107.15|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Esophagus_Mucosa|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6518 0.8880 0.6050 0.6250 0.4124 0.7592 0.6524 0.6491 0.6393 0.7223 0.8834 0.6348 0.6060 0.4491 0.7606 0.6578 0.6977 hom 1382.69 50 2 120060082 . T C 1382.69 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;QD=27.65;VQSLOD=8.5050;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1416,102,0 2 120078778 120078778 T C exonic C2orf76 nonsynonymous SNV C2orf76:NM_001322330:exon3:c.A136G:p.I46V,C2orf76:NM_001322331:exon3:c.A136G:p.I46V,C2orf76:NM_001017927:exon4:c.A136G:p.I46V,C2orf76:NM_001322329:exon4:c.A136G:p.I46V 0.66 0.84 0.59 0.44 0.65 0.68 0.6640 0.8144 0.6129 0.4322 0.7503 0.6690 0.6567 0.6770 0.7 0.8 0.66 0.73 0.63 rs1132267 COSM441051 1(large_intestine) . . . . . . . . . . . 0.725 0.043 T 0.004 0.112 B 0.016 0.166 B 0.023 0.265 N 1 0.090 P -0.325 0.035 N 1.42 0.332 T -0.15 0.093 N 0.119 0.132 -1.008 0.274 T 0.000 0.000 T . . . -0.354 0.065 0.499 0.763 0.110 0.003 0.015 N c -1.287 -1.261 0.057 0.151 0.706 0.609 0 -2.9 0.053 -1.234 0.030 -0.399 0.062 0.046 0.210 0.990 0.544 11.409 0.490 . ENSG00000229867.1|ENSG00000115107.15|ENSG00000186132.10|ENSG00000229867.1|ENSG00000115107.15|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000229867.1|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10|ENSG00000186132.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6543 0.8072 0.5935 0.6167 0.4143 0.7599 0.6562 0.65 0.6709 0.7008 0.8009 0.6337 0.6060 0.4597 0.7591 0.6608 0.6990 hom 1581.30 56 2 120078778 . T C 1581.30 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=28.24;VQSLOD=7.9420;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1614,120,0 2 120129841 120129841 A G exonic DBI nonsynonymous SNV DBI:NM_001079862:exon4:c.A211G:p.M71V,DBI:NM_001079863:exon4:c.A214G:p.M72V,DBI:NM_001178017:exon4:c.A394G:p.M132V,DBI:NM_001178043:exon4:c.A241G:p.M81V,DBI:NM_001282636:exon4:c.A139G:p.M47V,DBI:NM_001178041:exon5:c.A337G:p.M113V,DBI:NM_001178042:exon5:c.A262G:p.M88V,DBI:NM_001282633:exon5:c.A262G:p.M88V,DBI:NM_001282634:exon5:c.A262G:p.M88V,DBI:NM_001282635:exon5:c.A262G:p.M88V,DBI:NM_020548:exon5:c.A262G:p.M88V 0.009 0.0008 0.02 . 0.026 0.0041 0.0250 0.0055 0.0139 0 0.0191 0.0384 0.0220 0.0071 0.026 0.0054 0.036 0.011 0.041 rs8192506 COSM3766503;COSM3766502;COSM3766501 1(soft_tissue);1(liver) . . . . . . . . . . . 0.112 0.386 T 0.05 0.245 B 0.036 0.286 B 0.000 0.843 D 0.997 0.486 D . . . 1.79 0.255 T -2.38 0.563 N 0.196 0.309 -0.957 0.397 T 0.038 0.166 T . . . 3.382 0.465 23.0 0.985 0.416 0.923 0.552 D c 0.211 0.257 0.860 0.252 0.707 0.730 0 4.39 0.520 3.777 0.548 1.199 0.960 1.000 0.715 1.000 0.888 8.181 0.303 Acyl-CoA-binding protein\x2c ACBP|FERM/acyl-CoA-binding protein\x2c 3-helical bundle . . 0.0247 0.0053 0.0132 0.0438 0 0.0209 0.0383 0.0279 0.0074 0.0219 0.0065 0.0131 0.0430 0 0.0203 0.0332 0.0295 het 2194.46 190 2 120129841 . A G 2194.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.471;DP=190;Dels=0.00;FS=1.789;HRun=0;HaplotypeScore=3.9954;MQ=59.14;MQ0=1;MQRankSum=0.694;QD=11.55;ReadPosRankSum=-0.971;VQSLOD=5.7569;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,89:190:99:2224,0,2524 2 120194651 120194651 - GTGTGC exonic TMEM37 nonframeshift insertion TMEM37:NM_183240:exon2:c.208_209insGTGTGC:p.T70delinsSVP 0.9 0.97 0.84 0.89 0.87 0.86 0.8633 0.9571 0.7713 0.8840 0.8237 0.8661 0.8579 0.8623 0.88 0.95 0.85 0.9 0.76 rs3217464 COSM112142 1(ovary);23(upper_aerodigestive_tract);1(large_intestine);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8585 0.9600 0.7808 0.8934 0.8849 0.8233 0.8667 0.8619 0.8621 0.8832 0.9613 0.7764 0.9195 0.8745 0.8267 0.8583 0.8637 het 5500.66 138 2 120194651 . A AGTGTGC 5500.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.694;DP=138;DS;FS=3.688;HRun=0;HaplotypeScore=689.4120;MQ=50.02;MQ0=0;MQRankSum=-8.689;QD=39.86;ReadPosRankSum=0.869;set=variant2 GT:AD:DP:GQ:PL 0/1:94,39:138:99:5501,0,5537 2 120199140 120199140 A G exonic SCTR synonymous SNV SCTR:NM_002980:exon12:c.T1176C:p.N392N 0.87 0.84 0.83 0.91 0.87 0.9 0.8640 0.8398 0.7702 0.9106 0.8432 0.8736 0.8525 0.8902 0.86 0.84 0.87 0.9 0.8 rs1126839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8591 0.8412 0.7750 0.8969 0.9093 0.8410 0.8712 0.8626 0.8884 0.8572 0.8493 0.7649 0.9272 0.8957 0.8416 0.8644 0.8673 het 473.53 51 2 120199140 . A G 473.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.683;DP=51;Dels=0.00;FS=1.083;HRun=0;HaplotypeScore=0.7887;MQ=59.55;MQ0=0;MQRankSum=0.561;QD=9.28;ReadPosRankSum=-1.512;VQSLOD=6.2432;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,22:51:99:504,0,696 2 120369300 120369300 T C exonic CFAP221 synonymous SNV CFAP221:NM_001271049:exon13:c.T1293C:p.V431V 0.98 0.95 0.99 0.99 1. 1. 0.9951 0.9564 0.9978 0.9902 1 0.9996 0.9989 0.9998 0.99 0.96 1. 0.97 1. rs10864986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9956 0.9539 0.9972 0.9976 0.9886 1 0.9997 0.9965 0.9999 0.9863 0.9549 0.9964 1 0.9858 1 0.9999 0.9980 hom 1394.18 51 2 120369300 . T C 1394.18 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.09;MQ0=0;QD=27.34;VQSLOD=7.8012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1427,120,0 2 120388412 120388412 G A exonic CFAP221 nonsynonymous SNV CFAP221:NM_001271049:exon19:c.G1909A:p.V637I 0.98 0.92 0.99 0.99 1. 1. 0.9926 0.9293 0.9966 0.9902 1 0.9995 0.9967 0.9998 0.98 0.93 1. 0.96 1. rs2272058 . . . . . . . . . . . . . 0.613 0.054 T 0.0 0.026 B 0.0 0.040 B 0.873 0.072 N 1 0.090 P -0.145 0.044 N 1.59 0.288 T -0.03 0.075 N 0.011 0.092 -1.032 0.197 T 0.000 0.000 T . . . -2.262 0.005 0.001 0.252 0.011 0.004 0.021 N c -2.095 -2.132 0.998 0.362 0.554 0.283 0 -8.37 0.009 -0.331 0.079 -2.785 0.002 0.001 0.137 0.000 0.016 10.788 0.454 . . . 0.9938 0.9272 0.9962 0.9976 0.9886 1 0.9997 0.9960 0.9998 0.9793 0.9303 0.9952 1 0.9858 1 0.9999 0.9949 hom 7943.32 249 2 120388412 . G A 7943.32 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5486;MQ=59.23;MQ0=0;QD=31.90;VQSLOD=9.2154;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7942,623,0 2 120438523 120438523 A G exonic TMEM177 nonsynonymous SNV TMEM177:NM_001105198:exon2:c.A94G:p.I32V,TMEM177:NM_001105199:exon2:c.A94G:p.I32V,TMEM177:NM_030577:exon2:c.A94G:p.I32V 0.78 0.6 0.83 0.83 0.84 0.86 0.8300 0.6273 0.8794 0.8106 0.8714 0.8439 0.8326 0.8603 0.77 0.63 0.84 0.79 0.8 rs13011768 . . . . . . . . . . . . . 0.348 0.127 T 0.001 0.067 B 0.002 0.063 B 0.099 0.200 N 0.908 0.275 P 1.62 0.416 L 2.3 0.170 T -0.09 0.160 N 0.034 0.028 -1.035 0.189 T 0.000 0.000 T . . . -0.799 0.040 0.043 0.538 0.049 0.232 0.218 N c -0.921 -0.904 1.000 0.747 0.707 0.730 0 1.37 0.211 0.077 0.145 1.187 0.908 0.114 0.229 0.012 0.117 6.110 0.192 . ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hippocampus|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Liver|Nerve_Tibial 0.8343 0.6254 0.8717 0.7894 0.8099 0.8717 0.8451 0.8314 0.8598 0.7920 0.6445 0.8437 0.8245 0.8150 0.8648 0.8507 0.8520 hom 6293.24 191 2 120438523 . A G 6293.24 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9714;MQ=58.73;MQ0=0;QD=32.95;VQSLOD=8.0626;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:6292,490,0 2 120438696 120438696 A G exonic TMEM177 synonymous SNV TMEM177:NM_001105198:exon2:c.A267G:p.Q89Q,TMEM177:NM_001105199:exon2:c.A267G:p.Q89Q,TMEM177:NM_030577:exon2:c.A267G:p.Q89Q 0.98 0.93 0.99 1. 1. 1. 0.9942 0.9364 0.9971 1 1 1.0000 0.9967 1 0.98 0.94 1. 0.98 0.98 rs939777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9345 0.9968 1 1 1 1.0000 0.9967 1.0000 0.9823 0.9377 0.9976 1 1 1 0.9999 0.9990 hom 8657.71 250 2 120438696 . A G 8657.71 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3882;MQ=59.20;MQ0=0;QD=34.63;VQSLOD=4.1382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8657,695,0 2 120439230 120439230 C G exonic TMEM177 nonsynonymous SNV TMEM177:NM_001105198:exon2:c.C801G:p.D267E,TMEM177:NM_001105199:exon2:c.C801G:p.D267E,TMEM177:NM_030577:exon2:c.C801G:p.D267E 0.78 0.6 0.83 0.83 0.84 0.86 0.8300 0.6278 0.8791 0.8109 0.8712 0.8438 0.8326 0.8602 0.77 0.63 0.84 0.8 0.8 rs1983406 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.841 0.070 N 1 0.439 P -0.895 0.014 N 1.07 0.396 T 0.57 0.026 N 0.007 0.000 -1.054 0.134 T 0.000 0.000 T . . . -2.729 0.002 0.001 0.228 0.009 0.038 0.090 N c -2.595 -2.651 1.000 0.747 0.732 0.924 0 -9.21 0.006 -1.939 0.016 -3.354 0.001 0.000 0.063 0.005 0.090 3.875 0.085 . ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8|ENSG00000144120.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hippocampus|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Liver|Nerve_Tibial 0.8342 0.6255 0.8713 0.7896 0.8098 0.8718 0.8448 0.8315 0.8596 0.7914 0.6438 0.8437 0.8245 0.8160 0.8651 0.8499 0.8514 hom 4353.13 126 2 120439230 . C G 4353.13 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9993;MQ=59.49;MQ0=0;QD=34.55;VQSLOD=9.7422;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4353,343,0 2 120885310 120885310 G A exonic EPB41L5 nonsynonymous SNV EPB41L5:NM_001184937:exon17:c.G1384A:p.A462T,EPB41L5:NM_001330310:exon17:c.G1384A:p.A462T,EPB41L5:NM_020909:exon17:c.G1384A:p.A462T 0.59 0.38 0.66 0.67 0.73 0.6 0.6719 0.4369 0.6177 0.7101 0.6749 0.7266 0.6949 0.6144 0.63 0.45 0.72 0.65 0.69 rs1034489 COSM3757600 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.021 0.269 N 1.000 0.090 P -1.685 0.004 N -1.31 0.798 T 1.02 0.014 N 0.107 0.114 -0.933 0.437 T 0.000 0.000 T . . . 0.077 0.101 3.368 0.079 0.001 0.027 0.072 N c -1.207 -0.968 0.000 0.054 0.706 0.609 0 1.73 0.235 1.004 0.292 0.244 0.267 0.998 0.411 0.448 0.262 7.206 0.249 . ENSG00000226479.3|ENSG00000115109.9|ENSG00000226479.3|ENSG00000226479.3|ENSG00000115109.9|ENSG00000226479.3 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Cells_Transformed_fibroblasts|Muscle_Skeletal|Testis 0.6774 0.4327 0.6317 0.8234 0.7078 0.6770 0.7228 0.7160 0.6134 0.6259 0.4402 0.6289 0.8676 0.7250 0.6805 0.7016 0.6814 het 2245.18 195 2 120885310 . G A 2245.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.728;DP=195;Dels=0.00;FS=3.296;HRun=2;HaplotypeScore=4.9505;MQ=58.58;MQ0=0;MQRankSum=-0.022;QD=11.51;ReadPosRankSum=1.465;VQSLOD=5.0005;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,92:195:99:2275,0,2768 2 121036333 121036333 G A exonic RALB synonymous SNV RALB:NM_002881:exon2:c.G93A:p.T31T 0.044 0.0008 0.063 0.003 0.11 0.068 0.0820 0.0169 0.0471 0.0006 0.1072 0.1068 0.0794 0.0812 0.079 0.02 0.11 0.011 0.11 rs11545293 COSM5021315;COSM5021316 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0808 0.0151 0.0507 0.0628 0.0004 0.1055 0.1097 0.0759 0.0691 0.0778 0.0174 0.0632 0.0828 0.0006 0.0971 0.1160 0.1012 het 687.83 65 2 121036333 . G A 687.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.380;DP=65;Dels=0.00;FS=6.963;HRun=0;HaplotypeScore=1.8936;MQ=59.07;MQ0=0;MQRankSum=1.100;QD=10.58;ReadPosRankSum=-0.436;VQSLOD=4.7619;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,29:65:99:718,0,961 2 121726447 121726447 G A exonic GLI2 synonymous SNV GLI2:NM_005270:exon5:c.G801A:p.S267S 0.83 0.41 0.94 1. 0.98 0.98 0.9401 0.4730 0.9636 0.9997 0.9949 0.9851 0.9634 0.9791 0.81 0.47 0.98 0.76 0.96 rs2592595 . . Benign|Benign not_specified|Holoprosencephaly RCV000247010.1|RCV000346541.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . 0.994 0.019 T 0.006 0.126 B 0.01 0.139 B . . . 0.000 0.588 P . . . . . . 0.91 0.016 N . . -0.987 0.334 T 0.000 0.000 T . . . 0.628 0.154 8.346 0.857 0.155 0.018 0.055 N c -1.906 -2.042 1.000 0.747 0.745 0.986 0 -9.82 0.004 -5.923 0.001 -1.312 0.013 0.000 0.063 0.535 0.277 9.206 0.363 . . . 0.9498 0.4620 0.9636 0.9690 0.9999 0.9950 0.9857 0.9571 0.9788 0.8415 0.4716 0.9582 0.9570 0.9988 0.9954 0.9864 0.9633 hom 2885.99 89 2 121726447 . G A 2885.99 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=59.79;MQ0=0;QD=32.43;VQSLOD=8.9454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2919,226,0 2 121746956 121746956 G T exonic GLI2 nonsynonymous SNV GLI2:NM_005270:exon13:c.G3466T:p.A1156S 0.51 0.36 0.58 0.47 0.72 0.48 0.6296 0.4046 0.5558 0.4746 0.6601 0.7231 0.6475 0.5149 0.62 0.41 0.73 0.56 0.69 rs3738880 . . Benign|Benign not_specified|Holoprosencephaly RCV000081284.5|RCV000273393.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . 0.515 0.074 T 0.156 0.292 B 0.018 0.250 B 0.609 0.109 N 1 0.090 P 1.65 0.424 L 2.53 0.140 T -0.66 0.191 N 0.025 0.007 -1.041 0.170 T 0.000 0.000 T . . . -0.059 0.088 2.058 0.789 0.121 0.122 0.169 N c -0.796 -0.820 0.738 0.231 0.696 0.567 0 0.039 0.135 -0.106 0.108 0.134 0.217 0.000 0.063 0.049 0.163 6.810 0.228 . . . 0.6323 0.3936 0.5711 0.6680 0.4643 0.6746 0.7280 0.6651 0.5197 0.6086 0.4041 0.5730 0.6589 0.4901 0.6738 0.7230 0.6582 hom 2032.28 71 2 121746956 . G T 2032.28 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.47;MQ0=0;QD=28.62;VQSLOD=8.6745;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2065,162,0 2 121747406 121747406 G A exonic GLI2 nonsynonymous SNV GLI2:NM_005270:exon13:c.G3916A:p.D1306N 0.57 0.57 0.6 0.47 0.72 0.48 0.6464 0.5826 0.5638 0.4738 0.6595 0.7227 0.6595 0.5240 0.68 0.58 0.73 0.3 0.67 rs12711538 COSM3757603 1(pancreas);2(large_intestine) Benign|Benign not_specified|Holoprosencephaly RCV000081285.5|RCV000340352.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.454 0.125 N 1 0.090 P -1.545 0.005 N 2.6 0.132 T 1.9 0.005 N 0.003 0.000 -1.028 0.210 T 0.000 0.000 T . . . -0.401 0.061 0.385 0.250 0.011 0.004 0.020 N c -1.314 -1.179 0.974 0.294 0.696 0.567 0 2.13 0.263 2.133 0.415 -0.216 0.099 0.032 0.204 0.005 0.090 9.052 0.354 . . . 0.6450 0.5764 0.5790 0.6721 0.4635 0.6738 0.7271 0.6701 0.5255 0.6592 0.5805 0.5883 0.6623 0.4870 0.6745 0.7234 0.6701 hom 1862.23 57 2 121747406 . G A 1862.23 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=32.67;VQSLOD=9.8139;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1895,150,0 2 121747429 121747429 A G exonic GLI2 synonymous SNV GLI2:NM_005270:exon13:c.A3939G:p.P1313P 0.51 0.36 0.59 0.48 0.73 0.48 0.6344 0.4062 0.5559 0.4840 0.6663 0.7275 0.6518 0.5230 0.62 0.41 0.73 0.36 0.64 rs10167980 COSM3721935 1(upper_aerodigestive_tract) Benign|Benign not_specified|Holoprosencephaly RCV000081286.5|RCV000287111.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6365 0.3938 0.5723 0.6711 0.4741 0.6809 0.7324 0.6659 0.5254 0.6130 0.4068 0.5728 0.6623 0.4981 0.6808 0.7277 0.6615 hom 1642.37 56 2 121747429 . A G 1642.37 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4073;MQ=57.91;MQ0=0;QD=29.33;VQSLOD=6.6538;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,54:56:99:1675,138,0 2 121989489 121989489 G A exonic TFCP2L1 synonymous SNV TFCP2L1:NM_014553:exon13:c.C1254T:p.I418I 0.32 0.073 0.41 0.35 0.5 0.37 0.4446 0.1298 0.3657 0.3754 0.4915 0.5251 0.4481 0.3893 0.4 0.14 0.53 0.23 0.49 rs2304667 COSM3757604 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4472 0.1190 0.3669 0.5034 0.3784 0.4997 0.5267 0.4721 0.3886 0.4027 0.1381 0.3720 0.4901 0.4090 0.4914 0.5309 0.4784 hom 5297.78 171 2 121989489 . G A 5297.78 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2153;MQ=58.73;MQ0=0;QD=30.98;VQSLOD=6.8119;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:171:99:5261,406,0 2 125192068 125192068 T C exonic CNTNAP5 synonymous SNV CNTNAP5:NM_130773:exon5:c.T537C:p.D179D 0.82 0.68 0.85 0.86 0.96 0.82 0.9018 0.7182 0.7815 0.8914 0.9542 0.9624 0.9020 0.8343 0.89 0.72 0.97 0.83 . rs1425745 COSM4001161 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9000 0.7171 0.7890 0.9488 0.8922 0.9554 0.9617 0.9149 0.8344 0.8892 0.7298 0.8134 0.9338 0.8906 0.9559 0.9670 0.9277 hom 4797.62 159 2 125192068 . T C 4797.62 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.24;MQ0=0;QD=30.17;VQSLOD=9.0069;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4797,373,0 2 127453664 127453664 A C exonic GYPC synonymous SNV GYPC:NM_016815:exon3:c.A276C:p.G92G,GYPC:NM_002101:exon4:c.A333C:p.G111G,GYPC:NM_001256584:exon5:c.A270C:p.G90G 0.61 0.75 0.57 0.68 0.55 0.47 0.5554 0.7015 0.4724 0.6650 0.5518 0.5617 0.5619 0.4395 0.6 0.69 0.55 0.73 0.53 rs1050967 COSM4133042 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5490 0.7027 0.4811 0.5494 0.6642 0.5540 0.5598 0.5533 0.4387 0.5916 0.6987 0.4785 0.5397 0.6731 0.5442 0.5426 0.5326 het 2741.92 213 2 127453664 . A C 2741.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.472;DP=213;Dels=0.00;FS=0.695;HRun=0;HaplotypeScore=12.8432;MQ=59.17;MQ0=0;MQRankSum=-1.337;QD=12.87;ReadPosRankSum=0.243;VQSLOD=2.5675;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,118:213:99:2772,0,2682 2 127953054 127953054 A C exonic CYP27C1 synonymous SNV CYP27C1:NM_001001665:exon5:c.T576G:p.T192T 0.28 0.46 0.15 0.11 0.27 0.3 0.2697 0.4421 0.1257 0.1145 0.2806 0.2714 0.2854 0.3307 0.33 0.44 0.28 0.38 0.25 rs7568070 COSM148938 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2609 0.4468 0.1353 0.2561 0.1189 0.2755 0.2728 0.2561 0.3339 0.3156 0.4513 0.1516 0.2583 0.1327 0.2832 0.2748 0.3092 het 816.23 88 2 127953054 . A C 816.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.542;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.38;MQ0=0;MQRankSum=0.693;QD=9.28;ReadPosRankSum=-0.659;VQSLOD=6.5104;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,37:88:99:846,0,1477 2 128079806 128079806 A G exonic MAP3K2 synonymous SNV MAP3K2:NM_006609:exon11:c.T861C:p.A287A 0.21 0.27 0.17 0.018 0.28 0.27 0.2661 0.2651 0.1476 0.0127 0.2590 0.3104 0.2872 0.3029 0.3 0.26 0.31 0.3 . rs3732209 COSM3757613;COSM3757612 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2570 0.2576 0.1477 0.3382 0.0125 0.2615 0.3061 0.2718 0.3034 0.2629 0.2567 0.1551 0.3444 0.0142 0.2565 0.2962 0.3119 hom 1017.26 36 2 128079806 . A G 1017.26 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=28.26;VQSLOD=8.5818;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:78.26:1050,78,0 2 128184770 128184770 T C exonic PROC synonymous SNV PROC:NM_000312:exon8:c.T768C:p.D256D 0.23 0.35 0.21 0.001 0.31 0.24 0.2828 0.3309 0.1652 0.0024 0.2828 0.3330 0.3076 0.2778 0.32 0.32 0.33 0.29 0.25 rs5937 COSM4133050 1(thyroid) Benign|Likely benign not_specified|Thrombophilia\x2c_hereditary\x2c_due_to_protein_C_deficiency\x2c_autosomal_dominant RCV000241792.1|RCV000280967.1 MedGen|MedGen:OMIM CN169374|C2674321:176860 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2734 0.3256 0.1678 0.3465 0.0022 0.2848 0.3281 0.2913 0.2832 0.2951 0.3274 0.1770 0.3567 0.0018 0.2847 0.3135 0.3326 hom 3093.44 99 2 128184770 . T C 3093.44 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.25;VQSLOD=13.8527;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3126,277,0 2 128321770 128321770 G A exonic MYO7B nonsynonymous SNV MYO7B:NM_001080527:exon3:c.G61A:p.G21S 0.4 0.14 0.58 0.55 0.48 0.36 0.5234 0.2578 0.7096 0.6185 0.5387 0.5641 0.5333 0.4005 0.4 0.19 0.5 0.28 . rs2404991 COSM4999950;COSM4999951 1(pancreas) . . . . . . . . . . . 0.37 0.115 T 0.027 0.182 B 0.007 0.121 B 0.424 0.047 N 1 0.090 P 0.29 0.101 N -2.19 0.868 D 0.36 0.037 N 0.01 0.001 -1.030 0.204 T 0.000 0.000 T . . . 0.310 0.124 5.794 0.839 0.145 0.087 0.144 N c -1.189 -1.163 1.000 0.747 0.497 0.185 0 -0.284 0.122 0.546 0.228 0.133 0.217 0.000 0.063 0.048 0.163 10.527 0.440 . ENSG00000144230.12|ENSG00000236682.1|ENSG00000236682.1|ENSG00000144230.12|ENSG00000236682.1|ENSG00000144230.12|ENSG00000144230.12|ENSG00000236682.1|ENSG00000169994.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.4836 0.1747 0.6675 0.5247 0.5497 0.4649 0.4892 0.4856 0.3656 0.4121 0.1776 0.6435 0.4967 0.5550 0.4585 0.5038 0.4724 het 259.93 17 2 128321770 . G A 259.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DP=17;Dels=0.00;FS=4.598;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.433;QD=15.29;ReadPosRankSum=1.203;VQSLOD=5.6316;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:290,0,195 2 128400608 128400608 C T exonic LIMS2 synonymous SNV LIMS2:NM_001161403:exon5:c.G399A:p.K133K,LIMS2:NM_001161404:exon5:c.G384A:p.K128K,LIMS2:NM_017980:exon5:c.G471A:p.K157K,LIMS2:NM_001136037:exon6:c.G465A:p.K155K 0.55 0.47 0.65 0.71 0.54 0.4 0.6034 0.5236 0.7768 0.7394 0.6175 0.6057 0.5930 0.4761 0.51 0.46 0.53 0.53 0.25 rs4662751 COSM3766509 1(breast);1(urinary_tract);1(liver) Benign not_specified RCV000244901.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5563 0.4642 0.7298 0.6021 0.6944 0.5276 0.5226 0.5473 0.4449 0.5231 0.4634 0.7069 0.5993 0.6920 0.5289 0.5260 0.5287 het 216.12 14 2 128400608 . C T 216.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.212;QD=15.44;ReadPosRankSum=0.071;VQSLOD=11.8567;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,10:14:89.37:246,0,89 2 128870808 128870808 T C exonic UGGT1 synonymous SNV UGGT1:NM_020120:exon6:c.T672C:p.N224N 0.82 0.65 0.9 0.85 0.98 0.8 0.9205 0.7140 0.9376 0.8361 0.9788 0.9761 0.9481 0.8323 0.89 0.73 0.97 0.77 0.95 rs4662775 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9274 0.7115 0.9393 0.9744 0.8364 0.9799 0.9770 0.9451 0.8352 0.8962 0.7234 0.9379 0.9868 0.8370 0.9759 0.9768 0.9469 hom 1325.01 41 2 128870808 . T C 1325.01 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;QD=32.32;VQSLOD=8.5622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1358,105,0 2 128878014 128878014 G A exonic UGGT1 synonymous SNV UGGT1:NM_020120:exon9:c.G957A:p.K319K 0.83 0.7 0.91 0.85 0.98 0.8 0.9237 0.7450 0.9395 0.8382 0.9788 0.9762 0.9482 0.8341 0.9 0.75 0.97 0.77 0.98 rs4662594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9300 0.7451 0.9408 0.9743 0.8384 0.9799 0.9772 0.9467 0.8365 0.9054 0.7550 0.9388 0.9868 0.8381 0.9759 0.9771 0.9521 hom 7208.20 230 2 128878014 . G A 7208.20 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.3662;MQ=58.99;MQ0=0;QD=31.34;VQSLOD=9.4907;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7208,551,0 2 130925088 130925088 C T exonic SMPD4 synonymous SNV SMPD4:NM_001171083:exon7:c.G633A:p.T211T,SMPD4:NM_017751:exon9:c.G852A:p.T284T,SMPD4:NM_017951:exon9:c.G852A:p.T284T 0.36 0.21 0.44 0.44 0.34 0.44 0.3787 0.2600 0.4287 0.4648 0.3745 0.3723 0.3775 0.4011 0.33 0.26 0.36 0.41 0.37 rs10909567 COSM4418795 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3779 0.2497 0.4282 0.2786 0.4629 0.3831 0.3690 0.3738 0.3997 0.3438 0.2566 0.4185 0.2616 0.4757 0.3820 0.3676 0.3654 het 1363.09 98 2 130925088 . C T 1363.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.811;DP=98;Dels=0.00;FS=6.917;HRun=0;HaplotypeScore=1.9937;MQ=57.48;MQ0=0;MQRankSum=1.088;QD=13.91;ReadPosRankSum=0.433;VQSLOD=3.7208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,55:98:99:1393,0,980 2 131487673 131487673 A C exonic GPR148 nonsynonymous SNV GPR148:NM_207364:exon1:c.A949C:p.T317P 0.95 0.97 0.95 1. 0.92 0.94 0.9345 0.9650 0.9332 0.9990 0.8904 0.9218 0.9202 0.9528 0.94 0.96 0.93 0.97 0.93 rs272128 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.999 0.221 P -2.135 0.001 N 2.52 0.142 T 3.2 0.001 N 0.068 0.055 -0.990 0.327 T 0.000 0.000 T . . . 0.082 0.102 3.420 0.123 0.002 0.003 0.014 N c -0.918 -0.784 0.186 0.179 0.497 0.185 0 3.31 0.369 2.146 0.416 -0.146 0.109 0.830 0.299 0.049 0.163 9.867 0.401 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9334 0.9667 0.9319 0.9007 0.9988 0.8933 0.9250 0.9283 0.9524 0.9360 0.9630 0.9427 0.8907 0.9988 0.8915 0.9254 0.9196 hom 4480.47 129 2 131487673 . A C 4480.47 Mask AC=2;AF=1.00;AN=2;DP=129;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2932;MQ=59.50;MQ0=0;QD=34.73;VQSLOD=8.6426;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4480,355,0 2 131520663 131520663 T C exonic AMER3 nonsynonymous SNV AMER3:NM_001105193:exon2:c.T1018C:p.S340P,AMER3:NM_001105194:exon2:c.T1018C:p.S340P,AMER3:NM_001105195:exon2:c.T1018C:p.S340P,AMER3:NM_152698:exon2:c.T1018C:p.S340P 0.99 1. 0.99 1. 0.97 1. 0.9802 0.9933 0.9892 0.9999 0.9888 0.9694 0.9821 0.9955 0.98 0.99 0.97 1. 0.95 rs1905235 COSM3757623 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.958 0.077 N 1 0.090 P -1.69 0.004 N 2.23 0.181 T 0.71 0.021 N 0.015 0.002 -0.987 0.333 T 0.000 0.000 T . . . -2.664 0.002 0.001 0.080 0.001 0.004 0.019 N c -1.995 -1.885 0.091 0.161 0.497 0.185 0 0.659 0.170 -0.104 0.108 -1.154 0.017 0.000 0.063 0.001 0.043 2.498 0.043 . . . 0.9804 0.9950 0.9876 0.9667 0.9999 0.9879 0.9687 0.9782 0.9958 0.9816 0.9925 0.9833 0.9834 1 0.9880 0.9715 0.9817 hom 2665.74 83 2 131520663 . T C 2665.74 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=32.12;VQSLOD=9.3967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2699,214,0 2 131802045 131802045 C T exonic ARHGEF4 synonymous SNV ARHGEF4:NM_032995:exon11:c.C1773T:p.P591P,ARHGEF4:NM_015320:exon12:c.C1773T:p.P591P 0.18 0.28 0.12 0.13 0.11 0.23 0.2040 0.2597 0.1533 0.1875 0.2083 0.1511 0.1931 0.2517 0.16 0.24 0.11 0.21 0.09 rs10928515 COSM3757629;COSM441127;COSM3757628 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1486 0.2642 0.0916 0.1861 0.1590 0.1064 0.1188 0.1337 0.2578 0.1614 0.2629 0.1002 0.1490 0.1696 0.1090 0.1194 0.1306 het 224.48 10 2 131802045 . C T 224.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.898;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=1.733;QD=22.45;ReadPosRankSum=-0.480;VQSLOD=5.9661;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:2,8:10:37.71:254,0,38 2 132241704 132241704 C T exonic MZT2A nonsynonymous SNV MZT2A:NM_001085365:exon3:c.G407A:p.R136H 0.17 0.46 0.1 0.004 0.092 0.064 0.1020 0.4285 0.0570 0.0030 0.0568 0.0864 0.0783 0.0745 0.2 0.4 0.091 0.25 0.066 rs11553182 . . . . . . . . . . . . . 0.026 0.469 D 0.072 0.225 B 0.012 0.149 B 0.000 0.629 D 0.002 0.445 P 1.845 0.488 L 0.85 0.471 T -2.71 0.577 D 0.171 0.207 -0.932 0.438 T 0.000 0.000 T . . . 3.118 0.434 22.6 0.999 0.942 0.698 0.340 D c -0.305 -0.298 0.051 0.149 0.707 0.730 0 2.4 0.284 3.887 0.557 0.548 0.283 1.000 0.715 0.306 0.238 10.509 0.438 . ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000075886.10|ENSG00000173272.9|ENSG00000173272.9|ENSG00000197927.8|ENSG00000173272.9|ENSG00000173272.9|ENSG00000163040.10|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000163040.10|ENSG00000075886.10|ENSG00000173272.9|ENSG00000197927.8|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.0944 0.4299 0.0565 0.0766 0.0031 0.0545 0.0887 0.0905 0.0767 0.1683 0.4215 0.0742 0.0795 0.0062 0.0538 0.0783 0.0808 het 1384.52 154 2 132241704 . C T 1384.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.544;DP=154;Dels=0.00;FS=0.623;HRun=0;HaplotypeScore=3.9400;MQ=59.08;MQ0=1;MQRankSum=-1.063;QD=8.99;ReadPosRankSum=0.239;VQSLOD=4.7483;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,58:154:99:1415,0,2440 2 132241731 132241731 T C exonic MZT2A nonsynonymous SNV MZT2A:NM_001085365:exon3:c.A380G:p.H127R 0.17 0.46 0.1 0.004 0.092 0.064 0.1023 0.4270 0.0568 0.0030 0.0569 0.0861 0.0778 0.0746 0.2 0.41 0.092 0.26 0.066 rs75021268 COSM3757632 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P -2.585 0.000 N 2.26 0.176 T 2.73 0.002 N 0.012 0.001 -0.936 0.433 T 0.000 0.000 T . . . -2.102 0.007 0.001 0.344 0.021 0.022 0.063 N c -1.613 -1.484 0.001 0.073 0.707 0.730 0 1.32 0.208 2.186 0.420 -0.239 0.092 0.906 0.313 0.029 0.146 6.272 0.200 . ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000075886.10|ENSG00000173272.9|ENSG00000173272.9|ENSG00000197927.8|ENSG00000173272.9|ENSG00000173272.9|ENSG00000163040.10|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000163040.10|ENSG00000075886.10|ENSG00000173272.9|ENSG00000197927.8|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9|ENSG00000173272.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.0945 0.4306 0.0566 0.0764 0.0031 0.0545 0.0887 0.0905 0.0767 0.1684 0.4215 0.0742 0.0795 0.0062 0.0538 0.0784 0.0804 het 1689.44 152 2 132241731 . T C 1689.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.096;DP=152;Dels=0.00;FS=9.977;HRun=0;HaplotypeScore=5.9504;MQ=59.43;MQ0=0;MQRankSum=-1.571;QD=11.11;ReadPosRankSum=-1.545;VQSLOD=2.4856;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:84,68:152:99:1719,0,2264 2 133489601 133489601 A G exonic NCKAP5 synonymous SNV NCKAP5:NM_207481:exon15:c.T1195C:p.L399L,NCKAP5:NM_207363:exon17:c.T5152C:p.L1718L 0.16 0.049 0.15 0.1 0.26 0.25 0.2383 0.0851 0.1434 0.1148 0.2271 0.2801 0.2679 0.2900 0.21 0.08 0.27 0.16 . rs56284623 COSM3757635;COSM3757634 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2258 0.0792 0.1419 0.2546 0.1116 0.2208 0.2746 0.2362 0.2719 0.2072 0.0859 0.1480 0.2219 0.1326 0.2115 0.2867 0.2312 het 678.70 47 2 133489601 . A G 678.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.032;DP=47;Dels=0.00;FS=8.221;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=0.674;QD=14.44;ReadPosRankSum=0.460;VQSLOD=3.9247;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,26:47:99:709,0,546 2 133539566 133539566 G A exonic NCKAP5 synonymous SNV NCKAP5:NM_207363:exon14:c.C4818T:p.H1606H 0.54 0.5 0.48 0.74 0.47 0.48 0.5073 0.5060 0.4906 0.7571 0.4020 0.4997 0.5167 0.4614 0.51 0.53 0.5 0.62 . rs6730282 COSM3757636 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5043 0.5060 0.4814 0.5364 0.7638 0.4061 0.4991 0.4956 0.4643 0.5003 0.5161 0.5048 0.5298 0.7701 0.3935 0.4880 0.4691 het 1826.67 162 2 133539566 . G A 1826.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.617;DP=162;Dels=0.00;FS=1.245;HRun=0;HaplotypeScore=3.8205;MQ=59.63;MQ0=0;MQRankSum=1.599;QD=11.28;ReadPosRankSum=-0.475;VQSLOD=5.8755;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:89,73:162:99:1857,0,2423 2 133541107 133541107 T A exonic NCKAP5 nonsynonymous SNV NCKAP5:NM_207363:exon14:c.A3277T:p.N1093Y 0.18 0.045 0.19 0.25 0.23 0.23 0.2190 0.0694 0.1834 0.3050 0.1311 0.2382 0.2388 0.2456 0.18 0.07 0.24 0.2 . rs16841277 COSM3757637 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 0.969 0.548 D 0.558 0.477 P 0.662 0.104 U 1 0.090 P 2.3 0.659 M 2.74 0.117 T -2.18 0.491 N 0.091 0.089 -0.912 0.466 T 0.000 0.000 T . . . 3.499 0.478 23.1 0.989 0.471 0.259 0.226 N c -0.348 -0.458 0.001 0.074 0.554 0.246 0 3.01 0.337 0.822 0.268 1.061 0.807 0.001 0.137 0.483 0.268 8.714 0.334 . . . 0.2159 0.0680 0.1738 0.2707 0.3149 0.1362 0.2375 0.2216 0.2405 0.1847 0.0749 0.1814 0.2682 0.3263 0.1381 0.2413 0.2096 het 3157.94 249 2 133541107 . T A 3157.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.965;DP=249;DS;Dels=0.00;FS=1.039;HRun=0;HaplotypeScore=7.2754;MQ=58.83;MQ0=0;MQRankSum=-1.320;QD=12.68;ReadPosRankSum=-0.374;VQSLOD=3.5827;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,120:249:99:3188,0,3658 2 133541444 133541444 T C exonic NCKAP5 synonymous SNV NCKAP5:NM_207363:exon14:c.A2940G:p.P980P 0.72 0.85 0.67 0.87 0.52 0.61 0.6114 0.8207 0.7210 0.8856 0.4861 0.5390 0.5957 0.5992 0.63 0.82 0.54 0.78 . rs12691829 COSM3757638 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6081 0.8244 0.6882 0.5546 0.8886 0.4951 0.5338 0.5721 0.5929 0.6295 0.8216 0.6806 0.5403 0.8752 0.4825 0.5288 0.5657 het 665.96 45 2 133541444 . T C 665.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.758;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5810;MQ=59.49;MQ0=0;MQRankSum=1.160;QD=14.80;ReadPosRankSum=-1.505;VQSLOD=5.7670;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,26:45:99:696,0,485 2 133541454 133541454 A G exonic NCKAP5 nonsynonymous SNV NCKAP5:NM_207363:exon14:c.T2930C:p.I977T 0.7 0.83 0.67 0.87 0.49 0.61 0.5910 0.8049 0.7115 0.8856 0.4427 0.5139 0.5694 0.5924 0.61 0.8 0.52 0.77 . rs12691830 COSM1399445 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.923 0.023 T 0.0 0.026 B 0.0 0.013 B 0.216 0.162 N 1 0.357 P -1.59 0.004 N 3.01 0.091 T 1.15 0.012 N 0.002 0.000 -1.029 0.206 T 0.000 0.000 T . . . -1.562 0.015 0.002 0.256 0.012 0.002 0.010 N c -1.311 -1.210 0.019 0.131 0.554 0.246 0 4.16 0.480 1.462 0.347 -0.321 0.076 0.051 0.212 0.064 0.173 10.811 0.456 . . . 0.5883 0.8097 0.6808 0.5518 0.8894 0.4519 0.5089 0.5500 0.5843 0.6056 0.8047 0.6722 0.54 0.8759 0.4395 0.5020 0.5279 het 688.41 43 2 133541454 . A G 688.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.450;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;MQRankSum=-0.603;QD=16.01;ReadPosRankSum=-1.539;VQSLOD=6.5483;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,25:43:99:718,0,423 2 133542014 133542014 T C exonic NCKAP5 synonymous SNV NCKAP5:NM_207363:exon14:c.A2370G:p.A790A 0.71 0.83 0.67 0.87 0.51 0.61 0.6003 0.8033 0.7237 0.8835 0.4484 0.5274 0.5916 0.5999 0.61 0.8 0.53 0.78 . rs12616282 COSM3757639 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5952 0.8102 0.7005 0.5617 0.8865 0.4547 0.5244 0.5693 0.5835 0.6141 0.8099 0.6778 0.5464 0.8727 0.4425 0.5151 0.5348 het 1725.86 148 2 133542014 . T C 1725.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.896;DP=148;DS;Dels=0.00;FS=1.360;HRun=0;HaplotypeScore=6.7128;MQ=58.80;MQ0=0;MQRankSum=0.464;QD=11.66;ReadPosRankSum=1.213;VQSLOD=4.6190;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,71:148:99:1756,0,2124 2 133542574 133542574 C T exonic NCKAP5 nonsynonymous SNV NCKAP5:NM_207363:exon14:c.G1810A:p.V604M 0.18 0.051 0.18 0.25 0.22 0.23 0.2182 0.0763 0.1806 0.3060 0.1302 0.2367 0.2377 0.2423 0.18 0.074 0.24 0.2 . rs61995744 COSM3757640 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.369 0.116 T 0.001 0.067 B 0.002 0.063 B 0.702 0.101 U 1 0.588 P 0.755 0.192 N 0.96 0.429 T 0.67 0.023 N 0.027 0.011 -1.044 0.162 T 0.000 0.000 T . . . -2.395 0.004 0.001 0.723 0.096 0.031 0.079 N c -2.245 -2.313 0.998 0.358 0.554 0.246 0 -9.81 0.004 -0.148 0.101 -2.954 0.001 0.006 0.172 0.000 0.016 3.269 0.064 . . . 0.2154 0.0759 0.1720 0.2730 0.3155 0.1349 0.2361 0.2194 0.2407 0.1861 0.0835 0.1782 0.2715 0.3280 0.1377 0.2394 0.2047 het 995.37 75 2 133542574 . C T 995.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DP=75;Dels=0.00;FS=1.070;HRun=0;HaplotypeScore=0.8941;MQ=59.50;MQ0=0;MQRankSum=1.874;QD=13.27;ReadPosRankSum=1.460;VQSLOD=5.6747;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,35:75:99:1025,0,1070 2 133554288 133554288 A G exonic NCKAP5 synonymous SNV NCKAP5:NM_207363:exon12:c.T822C:p.R274R,NCKAP5:NM_207481:exon12:c.T822C:p.R274R 0.69 0.71 0.67 0.89 0.54 0.62 0.6214 0.7096 0.7301 0.9019 0.5071 0.5654 0.6227 0.6141 0.6 0.71 0.55 0.73 . rs1868076 COSM3757642;COSM3757641 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6094 0.7067 0.7021 0.5980 0.9035 0.5031 0.5480 0.5933 0.6005 0.6066 0.7077 0.6787 0.59 0.8897 0.4923 0.5428 0.5707 het 588.38 41 2 133554288 . A G 588.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.354;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;MQRankSum=-0.441;QD=14.35;ReadPosRankSum=2.045;VQSLOD=5.9549;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,25:41:99:618,0,382 2 135711516 135711516 C T exonic CCNT2 synonymous SNV CCNT2:NM_001241:exon9:c.C1491T:p.D497D,CCNT2:NM_058241:exon9:c.C1491T:p.D497D,CCNT2:NM_001320748:exon10:c.C1059T:p.D353D,CCNT2:NM_001320749:exon10:c.C966T:p.D322D 0.73 0.77 0.64 0.88 0.55 0.79 0.5894 0.7286 0.6744 0.8755 0.4733 0.4936 0.6556 0.7226 0.55 0.71 0.47 0.76 0.38 rs3814355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5907 0.7289 0.6815 0.8098 0.8723 0.4658 0.4691 0.6197 0.7212 0.5767 0.7197 0.6782 0.8676 0.8812 0.4641 0.4785 0.5307 hom 1409.41 44 2 135711516 . C T 1409.41 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=32.03;VQSLOD=9.6483;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1442,120,0 2 135711657 135711657 G A exonic CCNT2 synonymous SNV CCNT2:NM_001241:exon9:c.G1632A:p.K544K,CCNT2:NM_058241:exon9:c.G1632A:p.K544K,CCNT2:NM_001320748:exon10:c.G1200A:p.K400K,CCNT2:NM_001320749:exon10:c.G1107A:p.K369K 0.7 0.66 0.62 0.88 0.55 0.79 0.5800 0.6434 0.6666 0.8755 0.4731 0.4916 0.6520 0.7200 0.53 0.64 0.47 0.75 0.41 rs3814354 COSM1179790 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5832 0.6433 0.6742 0.8069 0.8722 0.4660 0.4679 0.6120 0.7185 0.5498 0.6310 0.6699 0.8676 0.8821 0.4618 0.4760 0.5204 hom 5287.73 172 2 135711657 . G A 5287.73 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9920;MQ=59.16;MQ0=0;QD=30.74;VQSLOD=9.4102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5287,406,0 2 135745129 135745129 G A exonic MAP3K19 nonsynonymous SNV MAP3K19:NM_001018044:exon5:c.C974T:p.T325I,MAP3K19:NM_001321177:exon7:c.C1364T:p.T455I,MAP3K19:NM_025052:exon7:c.C1313T:p.T438I 0.13 0.042 0.23 0.12 0.2 0.13 0.1567 0.0586 0.1977 0.1204 0.1567 0.1694 0.1795 0.1559 0.13 0.064 0.16 0.11 0.15 rs16831235 COSM4417452 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.007 0.614 D 0.85 0.510 P 0.325 0.459 B 0.059 0.224 N 1 0.261 P 1.975 0.537 M -0.53 0.708 T -2.02 0.563 N 0.076 0.112 -1.094 0.049 T 0.000 0.001 T . . . 2.684 0.384 20.7 0.998 0.855 0.683 0.335 D c -0.138 -0.200 0.002 0.088 0.487 0.133 0 2.11 0.262 1.805 0.383 0.045 0.158 0.084 0.222 0.034 0.151 8.471 0.320 . . . 0.1595 0.0576 0.1968 0.2366 0.1184 0.1525 0.1622 0.1841 0.1589 0.1363 0.0634 0.1897 0.2351 0.1244 0.1546 0.1687 0.1680 het 1721.34 144 2 135745129 . G A 1721.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.059;DP=144;Dels=0.00;FS=1.330;HRun=1;HaplotypeScore=2.6566;MQ=59.70;MQ0=0;MQRankSum=-0.350;QD=11.95;ReadPosRankSum=-0.474;VQSLOD=6.5426;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,68:144:99:1751,0,2146 2 135893372 135893372 A G exonic RAB3GAP1 nonsynonymous SNV RAB3GAP1:NM_001172435:exon17:c.A1793G:p.N598S,RAB3GAP1:NM_012233:exon17:c.A1793G:p.N598S 0.21 0.02 0.2 0.39 0.19 0.33 0.2008 0.0347 0.2610 0.3854 0.1553 0.1722 0.2638 0.2967 0.11 0.031 0.15 0.18 0.098 rs10445686 COSM4417435;COSM4417434 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Warburg_micro_syndrome RCV000118091.3|RCV000307086.1 MedGen|MedGen:Orphanet CN169374|CN158709:ORPHA2510 . . . . . . 0.264 0.241 T 0.001 0.067 B 0.001 0.040 B 0.001 0.391 N 0.542 0.314 P 0.915 0.234 L 0.96 0.429 T -0.6 0.178 N 0.005 0.006 -0.957 0.397 T 0.000 0.000 T . . . 0.676 0.158 8.668 0.978 0.357 0.748 0.363 D c -0.306 -0.066 0.094 0.162 0.707 0.730 0 4.26 0.497 5.028 0.637 1.140 0.893 1.000 0.715 1.000 0.888 8.060 0.296 . ENSG00000115866.6 Thyroid 0.2042 0.0329 0.2479 0.3994 0.3904 0.1445 0.1533 0.2501 0.2948 0.1404 0.0358 0.2470 0.4570 0.3793 0.1476 0.1588 0.1843 het 1287.81 100 2 135893372 . A G 1287.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.533;DP=100;Dels=0.00;FS=8.606;HRun=0;HaplotypeScore=2.7966;MQ=59.05;MQ0=0;MQRankSum=1.325;QD=12.88;ReadPosRankSum=-0.594;VQSLOD=4.8320;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,45:100:99:1318,0,1476 2 135911422 135911422 T C exonic RAB3GAP1 synonymous SNV RAB3GAP1:NM_001172435:exon19:c.T2265C:p.F755F,RAB3GAP1:NM_012233:exon19:c.T2265C:p.F755F 0.79 0.97 0.65 1. 0.41 0.8 0.5174 0.8723 0.7425 0.9984 0.3183 0.3369 0.5375 0.6912 0.49 0.85 0.31 0.81 0.26 rs17261772 . . other|Benign not_specified|Warburg_micro_syndrome RCV000118094.3|RCV000356679.1 MedGen|MedGen:Orphanet CN169374|CN158709:ORPHA2510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5175 0.8820 0.7263 0.7179 0.9986 0.3122 0.3057 0.5373 0.6867 0.5266 0.8656 0.6998 0.7351 0.9988 0.3162 0.3187 0.4470 het 852.38 78 2 135911422 . T C 852.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.401;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.32;MQ0=0;MQRankSum=-0.448;QD=10.93;ReadPosRankSum=0.096;VQSLOD=6.4368;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,34:78:99:882,0,1193 2 136393658 136393658 A G exonic R3HDM1 nonsynonymous SNV R3HDM1:NM_001282800:exon8:c.A640G:p.M214V,R3HDM1:NM_001282799:exon9:c.A676G:p.M226V,R3HDM1:NM_001282798:exon11:c.A808G:p.M270V,R3HDM1:NM_015361:exon11:c.A808G:p.M270V 0.31 0.25 0.27 0.47 0.23 0.33 0.2402 0.2082 0.3140 0.4547 0.1759 0.1922 0.3 0.3128 0.18 0.2 0.18 0.3 0.11 rs961360 COSM3757643 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.328 0.264 T 0.006 0.500 B 0.022 0.670 B 0.000 0.491 D 0.011 0.409 P 0.69 0.170 N 1.04 0.402 T -0.57 0.172 N 0.11 0.301 -0.894 0.486 T 0.000 0.000 T . . . 0.994 0.189 10.63 0.907 0.194 0.996 0.982 D c 0.268 0.408 0.868 0.253 0.732 0.924 0 5.58 0.843 6.969 0.757 1.199 0.960 1.000 0.715 0.999 0.750 16.033 0.803 R3H domain;SUZ domain ENSG00000115866.6|ENSG00000115866.6|ENSG00000115866.6 Lung|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.2423 0.2064 0.3038 0.4647 0.4623 0.1660 0.1704 0.2837 0.3071 0.1994 0.1901 0.2895 0.4867 0.4409 0.1674 0.1742 0.2187 het 1667.86 141 2 136393658 . A G 1667.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.039;DP=141;Dels=0.00;FS=5.859;HRun=1;HaplotypeScore=2.8573;MQ=59.91;MQ0=0;MQRankSum=-0.253;QD=11.83;ReadPosRankSum=-1.467;VQSLOD=4.8158;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,67:141:99:1698,0,1906 2 136511817 136511817 A G exonic UBXN4 synonymous SNV UBXN4:NM_014607:exon4:c.A303G:p.E101E 0.2 0.17 0.21 0.19 0.21 0.23 0.1846 0.1462 0.1833 0.1730 0.1423 0.1855 0.2333 0.2251 0.16 0.14 0.17 0.22 0.13 rs1050115 COSM1129561 1(breast);2(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1854 0.1434 0.1828 0.4444 0.1784 0.1352 0.1666 0.2415 0.2249 0.1582 0.1317 0.1938 0.4834 0.1897 0.1359 0.1652 0.1844 het 3137.07 237 2 136511817 . A G 3137.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.801;DP=237;Dels=0.00;FS=3.619;HRun=0;HaplotypeScore=1.6006;MQ=58.91;MQ0=0;MQRankSum=0.332;QD=13.24;ReadPosRankSum=-0.505;VQSLOD=6.3618;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:117,119:237:99:3167,0,3081 2 136546110 136546110 A G exonic LCT synonymous SNV LCT:NM_002299:exon17:c.T5568C:p.A1856A 0.44 0.29 0.48 0.44 0.66 0.4 0.6215 0.3853 0.5114 0.4403 0.7399 0.7288 0.5958 0.4622 0.63 0.39 0.75 0.39 0.8 rs2278544 COSM4001189 1(haematopoietic_and_lymphoid_tissue) Benign|Benign Congenital_lactase_deficiency|Lactose_intolerance RCV000280698.1|RCV000378034.1 MedGen:OMIM:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0268179:223000:ORPHA53690:5388008|HP:0004789:C0022951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6226 0.3771 0.5187 0.4236 0.4428 0.7479 0.7529 0.5881 0.4662 0.6141 0.3845 0.5418 0.3874 0.4235 0.7437 0.7441 0.65 het 2293.76 165 2 136546110 . A G 2293.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.094;DP=165;DS;Dels=0.00;FS=5.567;HRun=1;HaplotypeScore=5.5888;MQ=59.32;MQ0=0;MQRankSum=1.436;QD=13.90;ReadPosRankSum=1.314;VQSLOD=4.6000;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,84:165:99:2324,0,2341 2 136555659 136555659 T C exonic LCT nonsynonymous SNV LCT:NM_002299:exon13:c.A4916G:p.N1639S 0.44 0.3 0.47 0.46 0.64 0.4 0.6058 0.3969 0.4966 0.4790 0.7269 0.7003 0.5672 0.4520 0.62 0.41 0.73 0.4 0.75 rs2322659 . . Benign|Benign Congenital_lactase_deficiency|Lactose_intolerance RCV000349439.1|RCV000392923.1 MedGen:OMIM:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0268179:223000:ORPHA53690:5388008|HP:0004789:C0022951 . . . . . . 0.134 0.263 T 0.013 0.154 B 0.031 0.206 B 0.152 0.179 N 1 0.090 P -0.53 0.025 N 1.54 0.301 T -0.1 0.085 N 0.022 0.084 -0.969 0.373 T 0.000 0.000 T . . . -0.727 0.044 0.063 0.742 0.103 0.099 0.153 N c -1.247 -1.298 1.000 0.747 0.556 0.300 0 -8.89 0.007 -0.919 0.041 -0.343 0.071 0.000 0.063 0.193 0.216 10.073 0.413 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000076003.4|ENSG00000076003.4|ENSG00000076003.4|ENSG00000144224.12|ENSG00000076003.4|ENSG00000115866.6 Artery_Aorta|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.6065 0.3896 0.5034 0.3632 0.4787 0.7341 0.7270 0.5655 0.4545 0.6053 0.3973 0.5107 0.33 0.4650 0.7284 0.7215 0.6352 het 2571.51 206 2 136555659 . T C 2571.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.625;DP=206;Dels=0.00;FS=2.408;HRun=0;HaplotypeScore=3.1062;MQ=59.47;MQ0=0;MQRankSum=-0.415;QD=12.48;ReadPosRankSum=-1.345;VQSLOD=6.0653;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,102:206:99:2602,0,2702 2 136561557 136561557 G A exonic LCT synonymous SNV LCT:NM_002299:exon11:c.C4606T:p.L1536L 0.66 0.4 0.75 0.78 0.75 0.73 0.7532 0.4765 0.7687 0.7900 0.8314 0.7856 0.7152 0.7370 0.7 0.49 0.8 0.56 0.84 rs2304371 . . Benign|Benign Congenital_lactase_deficiency|Lactose_intolerance RCV000303180.1|RCV000357102.1 MedGen:OMIM:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0268179:223000:ORPHA53690:5388008|HP:0004789:C0022951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7588 0.4710 0.7669 0.5104 0.7843 0.8381 0.8063 0.7186 0.7354 0.7084 0.4795 0.7446 0.4967 0.7658 0.8380 0.8037 0.7546 het 1396.57 116 2 136561557 . G A 1396.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.790;DP=116;Dels=0.00;FS=0.779;HRun=1;HaplotypeScore=4.7573;MQ=59.52;MQ0=0;MQRankSum=1.191;QD=12.04;ReadPosRankSum=2.310;VQSLOD=4.8668;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,49:116:99:1427,0,1846 2 136575199 136575199 G T exonic LCT synonymous SNV LCT:NM_002299:exon6:c.C1419A:p.G473G 0.36 0.12 0.43 0.4 0.6 0.33 0.5559 0.2168 0.4536 0.3927 0.7039 0.6701 0.5275 0.4069 0.54 0.24 0.7 0.3 0.66 rs6719488 COSM3757645 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Lactose_intolerance|Congenital_lactase_deficiency RCV000301721.1|RCV000361032.1 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT HP:0004789:C0022951|C0268179:223000:ORPHA53690:5388008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5599 0.2060 0.4608 0.3010 0.3972 0.7096 0.6998 0.5248 0.4095 0.5280 0.2210 0.4678 0.2914 0.3583 0.7049 0.6886 0.5786 het 787.79 59 2 136575199 . G T 787.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.618;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.296;QD=13.35;ReadPosRankSum=3.317;VQSLOD=10.1398;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,28:59:99:818,0,899 2 136575534 136575534 T C exonic LCT nonsynonymous SNV LCT:NM_002299:exon6:c.A1084G:p.I362V 0.98 0.92 1. 1. 1. 1. 0.9943 0.9394 0.9975 1 1 0.9996 0.9967 0.9999 0.98 0.94 1. 0.96 0.98 rs4954449 . . Benign|Benign Lactose_intolerance|Congenital_lactase_deficiency RCV000262636.1|RCV000352993.1 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT HP:0004789:C0022951|C0268179:223000:ORPHA53690:5388008 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.182 P -1.935 0.002 N 2.02 0.211 T 0.11 0.057 N 0.036 0.016 -0.954 0.404 T 0.000 0.000 T . . . -0.811 0.040 0.040 0.574 0.056 0.021 0.062 N c -0.863 -0.571 1.000 0.747 0.497 0.185 0 5.56 0.836 4.594 0.605 0.069 0.176 1.000 0.715 0.521 0.274 12.036 0.525 . . . 0.9953 0.9349 0.9972 0.9964 1 1 0.9999 0.9974 0.9998 0.9814 0.9354 0.9952 0.9967 0.9994 1 0.9998 0.9959 hom 6371.88 195 2 136575534 . T C 6371.88 Mask AC=2;AF=1.00;AN=2;DP=195;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.12;MQ0=0;QD=32.68;VQSLOD=9.8693;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6371,497,0 2 136590746 136590746 C T exonic LCT nonsynonymous SNV LCT:NM_002299:exon2:c.G655A:p.V219I 0.35 0.54 0.26 0.37 0.22 0.29 0.2437 0.4610 0.2374 0.3891 0.1468 0.1938 0.2676 0.2745 0.27 0.44 0.18 0.28 0.16 rs3754689 COSM1399583 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Lactose_intolerance|Congenital_lactase_deficiency RCV000288474.1|RCV000382944.1 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT HP:0004789:C0022951|C0268179:223000:ORPHA53690:5388008 . . . . . . 1.0 0.010 T 0.009 0.139 B 0.026 0.195 B 0.289 0.148 N 0.999 0.217 P 0.5 0.134 N 1.79 0.255 T 0.01 0.069 N 0.037 0.017 -0.914 0.464 T 0.000 0.000 T . . . -0.117 0.083 1.609 0.127 0.002 0.179 0.198 N c -1.032 -0.896 0.982 0.302 0.554 0.283 0 2.81 0.318 0.090 0.147 0.931 0.441 0.365 0.257 0.811 0.340 7.644 0.273 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000115866.6|ENSG00000115866.6|ENSG00000115866.6|ENSG00000144224.12|ENSG00000115866.6 Esophagus_Mucosa|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2402 0.4626 0.2396 0.4927 0.3942 0.1384 0.1729 0.2716 0.2753 0.2623 0.4434 0.2494 0.5101 0.4145 0.1380 0.1687 0.2146 het 1771.81 175 2 136590746 . C T 1771.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.752;DP=175;DS;Dels=0.00;FS=3.566;HRun=0;HaplotypeScore=4.3124;MQ=59.33;MQ0=0;MQRankSum=0.227;QD=10.12;ReadPosRankSum=-1.469;VQSLOD=5.1408;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,78:175:99:1802,0,2575 2 136594158 136594158 G A exonic LCT synonymous SNV LCT:NM_002299:exon1:c.C582T:p.T194T 0.35 0.12 0.4 0.37 0.6 0.34 0.5487 0.2204 0.3946 0.3654 0.7022 0.6696 0.5253 0.4110 0.54 0.24 0.7 0.29 0.73 rs2236783 COSM3757646 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Lactose_intolerance|Congenital_lactase_deficiency RCV000304642.1|RCV000407317.1 Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet:SNOMED_CT HP:0004789:C0022951|C0268179:223000:ORPHA53690:5388008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5504 0.2113 0.4015 0.3000 0.3693 0.7090 0.6996 0.5164 0.4130 0.5260 0.2261 0.4057 0.2867 0.3329 0.7046 0.6878 0.5770 het 2469.75 207 2 136594158 . G A 2469.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.702;DP=207;Dels=0.00;FS=4.882;HRun=0;HaplotypeScore=1.4972;MQ=59.27;MQ0=0;MQRankSum=0.289;QD=11.93;ReadPosRankSum=0.570;VQSLOD=6.1858;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,96:207:99:2500,0,3153 2 137814477 137814477 C G exonic THSD7B synonymous SNV THSD7B:NM_001316349:exon3:c.C627G:p.P209P 0.17 0.017 0.26 0.002 0.4 0.23 0.3082 0.0710 0.2017 0.0020 0.4013 0.3997 0.3452 0.2740 0.3 0.072 0.4 0.13 . rs17727482 COSM5021326;COSM5021327 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3130 0.0657 0.2170 0.4608 0.0017 0.3993 0.4007 0.3534 0.2801 0.2763 0.0706 0.2536 0.4868 0.0031 0.3918 0.3894 0.375 hom 7403.16 234 2 137814477 . C G 7403.16 Mask AC=2;AF=1.00;AN=2;DP=234;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8273;MQ=59.35;MQ0=0;QD=31.64;VQSLOD=8.3400;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,231:234:99:7380,605,0 2 137917922 137917922 T A exonic THSD7B nonsynonymous SNV THSD7B:NM_001316349:exon6:c.T1509A:p.D503E 0.28 0.14 0.35 0.14 0.49 0.36 0.4060 0.2064 0.2985 0.1313 0.5379 0.4765 0.4474 0.4013 0.39 0.2 0.48 0.17 . rs4954474 . . . . . . . . . . . . . 0.151 0.246 T 0.001 0.102 B 0.014 0.158 B 0.000 0.513 N 0.007 0.588 P 0.835 0.211 L 0.12 0.611 T -1.22 0.309 N 0.026 0.083 -0.912 0.466 T 0.000 0.000 T . . . 3.642 0.495 23.2 0.975 0.337 0.791 0.389 D c -0.528 -0.383 0.000 0.012 0.487 0.133 0 2.25 0.272 0.774 0.261 1.061 0.807 0.998 0.411 0.936 0.409 5.406 0.155 . . . 0.4099 0.2003 0.3129 0.4868 0.1304 0.5480 0.4781 0.4311 0.4008 0.3926 0.2010 0.3301 0.4868 0.1210 0.5424 0.4944 0.4795 hom 2996.41 97 2 137917922 . T A 2996.41 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=59.76;MQ0=0;QD=30.89;VQSLOD=8.8102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3029,250,0 2 138420996 138420996 A G exonic THSD7B nonsynonymous SNV THSD7B:NM_001316349:exon26:c.A4502G:p.K1501R 0.59 0.66 0.54 0.55 0.56 0.59 0.6256 0.6603 0.5683 0.6025 0.6282 0.6388 0.6389 0.5921 0.6 0.64 0.59 0.54 . rs10206850 COSM4001200;COSM4001199 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.199 P -1.79 0.003 N 2.51 0.143 T 0.44 0.033 N 0.079 0.580 -0.963 0.386 T 0.000 0.000 T . . . 2.345 0.343 18.46 0.911 0.198 0.495 0.282 N c -0.619 -0.275 0.045 0.146 0.554 0.283 0 6.02 0.975 5.512 0.665 0.138 0.222 1.000 0.715 0.999 0.750 15.622 0.765 . . . 0.5637 0.6304 0.4562 0.6731 0.5355 0.5823 0.5787 0.5738 0.5613 0.5957 0.6265 0.4640 0.7152 0.5615 0.5641 0.5951 0.5751 het 144.32 13 2 138420996 . A G 144.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.98;MQ0=0;MQRankSum=-0.312;QD=11.10;ReadPosRankSum=-0.555;VQSLOD=5.8742;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,7:13:99:174,0,169 2 138759649 138759649 C T exonic HNMT nonsynonymous SNV HNMT:NM_006895:exon4:c.C314T:p.T105I 0.059 0.003 0.078 0.032 0.1 0.11 0.1017 0.0204 0.1005 0.0408 0.1662 0.1144 0.1448 0.1066 0.077 0.024 0.1 0.087 0.057 rs11558538 . . other Asthma\x2c_susceptibility_to RCV000005467.2 MedGen:OMIM C1869116:600807 . . . . . . 0.004 0.654 D 0.729 0.407 P 0.602 0.490 P 0.001 0.392 N 0.999 0.463 D 2.65 0.778 M 0.99 0.418 T -2.45 0.535 N 0.396 0.455 -1.146 0.011 T 0.007 0.024 T . . . 6.125 0.844 28.3 0.998 0.908 0.911 0.526 D c 0.426 0.477 0.817 0.244 0.638 0.428 0 5.27 0.737 5.032 0.637 0.928 0.438 1.000 0.715 1.000 0.888 15.171 0.724 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000150540.9 Nerve_Tibial 0.1008 0.0162 0.0964 0.0695 0.0388 0.1601 0.1126 0.1099 0.1022 0.0879 0.0193 0.0923 0.0861 0.0289 0.1580 0.1162 0.1104 het 624.89 73 2 138759649 . C T 624.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.199;DP=73;Dels=0.00;FS=0.919;HRun=0;HaplotypeScore=0.9734;MQ=59.43;MQ0=0;MQRankSum=-0.051;QD=8.56;ReadPosRankSum=-0.693;VQSLOD=6.0836;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,29:73:99:655,0,1222 2 139429068 139429068 G A exonic NXPH2 synonymous SNV NXPH2:NM_007226:exon2:c.C219T:p.Y73Y 0.66 0.89 0.69 0.45 0.72 0.48 0.6719 0.8596 0.6701 0.4586 0.7450 0.6959 0.6871 0.5454 0.75 0.86 0.7 0.67 . rs10803570 COSM3757648 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6726 0.8649 0.6724 0.6398 0.4537 0.7432 0.7018 0.6855 0.5512 0.7493 0.8596 0.6897 0.5867 0.4406 0.7438 0.7288 0.7092 hom 4876.01 155 2 139429068 . G A 4876.01 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9900;MQ=58.69;MQ0=0;QD=31.46;VQSLOD=8.6692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4875,385,0 2 141032088 141032088 C T exonic LRP1B synonymous SNV LRP1B:NM_018557:exon85:c.G13047A:p.T4349T 0.49 0.16 0.57 0.65 0.67 0.52 0.6037 0.2388 0.5460 0.6858 0.6843 0.6595 0.6035 0.5737 0.53 0.26 0.67 0.51 0.52 rs1386356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6094 0.2301 0.5337 0.5178 0.6863 0.6878 0.6739 0.6123 0.5760 0.5412 0.2389 0.5469 0.4967 0.7081 0.6794 0.6628 0.6222 hom 2013.82 68 2 141032088 . C T 2013.82 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6735;MQ=56.79;MQ0=0;QD=29.62;VQSLOD=4.4044;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2047,162,0 2 141259283 141259283 G A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon55:c.C8823T:p.D2941D 0.1 0.04 0.11 0.019 0.2 0.18 0.1741 0.0598 0.1114 0.0132 0.2106 0.2154 0.1515 0.1947 0.17 0.064 0.23 0.11 0.22 rs35296183 COSM3757650 1(bone);8(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1716 0.0562 0.1052 0.1624 0.0152 0.2053 0.2207 0.1670 0.1906 0.1568 0.0628 0.1358 0.1788 0.0130 0.1996 0.2148 0.2049 hom 2489.34 86 2 141259283 . G A 2489.34 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=56.27;MQ0=0;QD=28.95;VQSLOD=6.0508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2522,196,0 2 141259376 141259376 G A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon55:c.C8730T:p.C2910C 0.13 0.061 0.12 0.02 0.25 0.21 0.2154 0.0826 0.1284 0.0148 0.3022 0.2674 0.2042 0.2210 0.21 0.086 0.27 0.13 0.21 rs35164907 COSM3757651 1(bone);12(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2132 0.0803 0.1242 0.2141 0.0166 0.3015 0.2687 0.2176 0.2198 0.2063 0.0852 0.1583 0.2252 0.0136 0.2952 0.2750 0.2740 hom 1255.65 38 2 141259376 . G A 1255.65 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3649;MQ=54.79;MQ0=0;QD=33.04;VQSLOD=3.8764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1289,108,0 2 141260668 141260668 A G exonic LRP1B synonymous SNV LRP1B:NM_018557:exon54:c.T8526C:p.Y2842Y 0.54 0.47 0.45 0.72 0.54 0.53 0.5490 0.4977 0.4719 0.7514 0.5804 0.5397 0.5 0.5568 0.53 0.5 0.55 0.55 0.46 rs4444457 COSM3757652 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5476 0.4967 0.4595 0.4065 0.7562 0.5877 0.5530 0.5183 0.5538 0.5463 0.4917 0.4580 0.4040 0.7593 0.5842 0.5528 0.5647 hom 2243.48 71 2 141260668 . A G 2243.48 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=58.61;MQ0=0;QD=31.60;VQSLOD=8.6331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2276,175,0 2 141274576 141274576 T C exonic LRP1B synonymous SNV LRP1B:NM_018557:exon50:c.A8031G:p.Q2677Q 0.64 0.69 0.74 0.42 0.75 0.63 0.7150 0.6940 0.7369 0.4041 0.6939 0.7714 0.7219 0.6561 0.75 0.7 0.77 0.64 0.8 rs4954672 COSM4001201 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7136 0.6883 0.7409 0.8406 0.4031 0.6860 0.7643 0.7476 0.6605 0.7137 0.6961 0.7542 0.8543 0.3999 0.6857 0.7578 0.7296 hom 2689.94 88 2 141274576 . T C 2689.94 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;QD=30.57;VQSLOD=9.2629;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2723,205,0 2 141457985 141457985 T A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon41:c.A6633T:p.P2211P 0.24 0.46 0.19 0.093 0.14 0.26 0.1951 0.4045 0.2103 0.0934 0.1912 0.1624 0.1784 0.2402 0.24 0.39 0.16 0.29 0.22 rs13431727 COSM5019588 7(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1884 0.4085 0.2001 0.0788 0.0886 0.1966 0.1655 0.1723 0.2371 0.2315 0.4057 0.1918 0.0795 0.0727 0.1995 0.1617 0.2061 het 1086.84 92 2 141457985 . T A 1086.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.391;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8273;MQ=58.47;MQ0=0;MQRankSum=0.493;QD=11.81;ReadPosRankSum=0.571;VQSLOD=5.4033;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,43:92:99:1117,0,1266 2 141571329 141571329 T C exonic LRP1B synonymous SNV LRP1B:NM_018557:exon32:c.A5256G:p.S1752S 0.85 0.7 0.77 0.99 0.87 0.92 0.8708 0.7320 0.7711 0.9888 0.8899 0.8828 0.8598 0.9101 0.84 0.74 0.89 0.8 0.83 rs3749010 COSM4133144 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8705 0.7279 0.7804 0.8659 0.9886 0.8918 0.8854 0.8586 0.9076 0.8491 0.7260 0.8098 0.8642 0.9932 0.8967 0.8937 0.8809 hom 3460.76 117 2 141571329 . T C 3460.76 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=59.45;MQ0=0;QD=29.58;VQSLOD=8.7869;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3460,280,0 2 141707868 141707868 G T exonic LRP1B synonymous SNV LRP1B:NM_018557:exon20:c.C3072A:p.A1024A 0.28 0.47 0.24 0.25 0.14 0.2 0.1761 0.4052 0.2665 0.2339 0.0684 0.1310 0.1424 0.1655 0.22 0.39 0.14 0.28 0.17 rs6748626 COSM3757654 1(haematopoietic_and_lymphoid_tissue);10(soft_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1732 0.4063 0.2573 0.1976 0.2361 0.0672 0.1288 0.1693 0.1625 0.2011 0.4066 0.2470 0.1954 0.2220 0.0639 0.1141 0.1263 het 1283.13 100 2 141707868 . G T 1283.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.441;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8490;MQ=58.66;MQ0=0;MQRankSum=-1.138;QD=12.83;ReadPosRankSum=0.662;VQSLOD=5.4558;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,49:100:99:1313,0,1326 2 141751592 141751592 G A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon16:c.C2616T:p.D872D 0.51 0.61 0.38 0.61 0.37 0.5 0.3880 0.5493 0.3962 0.5988 0.2436 0.3340 0.3491 0.4490 0.4 0.55 0.32 0.53 0.32 rs13007735 COSM4964776 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3818 0.5603 0.3886 0.4831 0.5911 0.2381 0.3243 0.3788 0.4483 0.3874 0.5551 0.3553 0.4834 0.5853 0.2413 0.3080 0.3145 het 920.09 70 2 141751592 . G A 920.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.259;DP=70;Dels=0.00;FS=3.209;HRun=0;HaplotypeScore=3.2270;MQ=59.04;MQ0=0;MQRankSum=-1.482;QD=13.14;ReadPosRankSum=1.906;VQSLOD=4.8693;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:950,0,807 2 141773397 141773397 C A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon13:c.G2058T:p.R686R 0.034 . 0.027 0.002 0.074 0.077 0.0528 0.0102 0.0324 0.0004 0.0335 0.0637 0.0541 0.0846 0.046 0.012 0.064 0.011 0.074 rs78806080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0513 0.0105 0.0307 0.0603 0.0005 0.0315 0.0647 0.0570 0.0846 0.0382 0.0115 0.0514 0.0662 0.0006 0.0301 0.0574 0.0519 het 1546.70 120 2 141773397 . C A 1546.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.678;DP=120;Dels=0.00;FS=3.398;HRun=0;HaplotypeScore=0.0000;MQ=57.83;MQ0=0;MQRankSum=1.460;QD=12.89;ReadPosRankSum=0.029;VQSLOD=4.6548;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,64:120:99:1577,0,1409 2 141816621 141816621 A G exonic LRP1B synonymous SNV LRP1B:NM_018557:exon9:c.T1239C:p.V413V 0.95 0.8 0.98 1. 1. 1. 0.9843 0.8263 0.9945 1 1 0.9997 0.9910 0.9996 0.94 0.82 1. 0.99 0.9 rs1525579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9878 0.8231 0.9940 1 1 1 0.9997 0.9951 0.9996 0.9499 0.8252 0.9916 1 1 1 0.9996 0.9918 hom 1484 49 2 141816621 . A G 1484 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.08;MQ0=0;QD=30.29;VQSLOD=8.5043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1517,120,0 2 143798189 143798189 A G exonic KYNU nonsynonymous SNV KYNU:NM_003937:exon13:c.A1234G:p.K412E,KYNU:NM_001199241:exon14:c.A1234G:p.K412E 0.18 0.14 0.091 0.27 0.19 0.17 0.1653 0.1368 0.0958 0.2765 0.1517 0.1645 0.1576 0.1835 0.16 0.14 0.17 0.14 0.11 rs9013 COSM3757655 6(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.687 0.043 T 0.0 0.026 B 0.001 0.040 B 0.070 0.215 N 1 0.090 P 1.56 0.396 L 0.63 0.531 T -1.47 0.360 N 0.12 0.155 -1.052 0.137 T 0.000 0.000 T . . . -0.929 0.035 0.022 0.225 0.009 0.250 0.223 N c -1.092 -1.028 0.044 0.146 0.707 0.730 0 4.36 0.515 1.846 0.387 1.028 0.649 0.045 0.210 0.389 0.252 12.635 0.559 Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 . . 0.1598 0.1362 0.0982 0.0927 0.2773 0.1542 0.1673 0.1458 0.1726 0.1602 0.1295 0.0909 0.1060 0.2578 0.1537 0.1739 0.1622 het 225.33 32 2 143798189 . A G 225.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=2.861;QD=7.04;ReadPosRankSum=-1.032;VQSLOD=4.5737;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:255,0,546 2 144194565 144194565 C T exonic ARHGAP15 synonymous SNV ARHGAP15:NM_018460:exon8:c.C657T:p.Y219Y 0.092 0.033 0.088 0.003 0.21 0.15 0.1712 0.0517 0.0714 0.0008 0.2393 0.2210 0.1767 0.1755 0.17 0.06 0.23 0.14 0.12 rs17230746 COSM3757656 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1692 0.0508 0.0781 0.1816 0.0006 0.2344 0.2227 0.1799 0.1727 0.1696 0.0502 0.0957 0.1821 0.0012 0.2373 0.2420 0.2210 het 245.99 37 2 144194565 . C T 245.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.150;DP=37;Dels=0.00;FS=1.380;HRun=0;HaplotypeScore=1.5779;MQ=58.64;MQ0=0;MQRankSum=-1.013;QD=6.65;ReadPosRankSum=-1.445;VQSLOD=4.0986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,11:37:99:276,0,660 2 144899559 144899559 C A exonic GTDC1 nonsynonymous SNV GTDC1:NM_001284233:exon4:c.G411T:p.M137I,GTDC1:NM_001284234:exon4:c.G24T:p.M8I,GTDC1:NM_001006636:exon6:c.G411T:p.M137I,GTDC1:NM_001164629:exon6:c.G411T:p.M137I,GTDC1:NM_001284235:exon6:c.G411T:p.M137I,GTDC1:NM_024659:exon6:c.G411T:p.M137I,GTDC1:NM_001284238:exon8:c.G315T:p.M105I 0.68 0.74 0.71 0.84 0.54 0.56 0.5781 0.7308 0.7876 0.8373 0.4863 0.4934 0.5861 0.5801 0.57 0.73 0.49 0.74 0.39 rs3731958 COSM3757657 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 1.000 0.199 P -2.79 0.000 N 1.15 0.785 T 2.11 0.007 N 0.068 0.228 -0.943 0.422 T 0.000 0.000 T . . . 1.600 0.254 13.85 0.569 0.055 0.402 0.261 N c -0.868 -0.536 0.983 0.304 0.693 0.558 0 4.9 0.635 1.911 0.393 0.242 0.267 1.000 0.715 0.999 0.750 13.011 0.580 Glycosyltransferase family 1\x2c N-terminal . . 0.5837 0.7374 0.7780 0.4869 0.8376 0.4972 0.4923 0.5643 0.5809 0.5883 0.7218 0.7302 0.4934 0.8099 0.4951 0.5057 0.5482 hom 1272.70 42 2 144899559 . C A 1272.70 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=30.30;VQSLOD=9.0944;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1306,102,0 2 150432976 150432976 C T exonic MMADHC synonymous SNV MMADHC:NM_015702:exon5:c.G453A:p.Q151Q 0.76 0.45 0.8 0.88 0.89 0.9 0.8681 0.5134 0.8502 0.8611 0.9422 0.9118 0.8855 0.9003 0.77 0.52 0.91 0.64 0.9 rs11545261 . . Benign|Benign|Benign not_specified|Methylmalonic_acidemia|Disorders_of_Intracellular_Cobalamin_Metabolism RCV000186036.2|RCV000344994.1|RCV000401734.1 MedGen|MedGen:SNOMED_CT|MedGen CN169374|C0268583:42393006|CN043592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8744 0.5080 0.8470 0.8999 0.8614 0.9427 0.9110 0.8837 0.9017 0.8004 0.5047 0.8520 0.8808 0.8517 0.9462 0.9220 0.8926 hom 4185.75 135 2 150432976 . C T 4185.75 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=59.35;MQ0=0;QD=31.01;VQSLOD=8.7055;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4185,319,0 2 152135415 152135415 C T exonic NMI synonymous SNV NMI:NM_004688:exon4:c.G267A:p.S89S 0.059 0.051 0.12 0.002 0.053 0.092 0.0689 0.0565 0.1023 0.0002 0.0840 0.0666 0.0822 0.0912 0.064 0.06 0.066 0.033 0.033 rs11551174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0681 0.0527 0.0992 0.0580 0.0003 0.0837 0.0631 0.0643 0.0904 0.0650 0.0599 0.0921 0.0530 0.0006 0.0931 0.0671 0.0652 het 1071.70 68 2 152135415 . C T 1071.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.509;DP=68;Dels=0.00;FS=0.965;HRun=0;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;MQRankSum=-1.374;QD=15.76;ReadPosRankSum=-1.743;VQSLOD=5.3990;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,43:68:99:1102,0,559 2 152236046 152236046 A - exonic TNFAIP6 nonframeshift deletion TNFAIP6:NM_007115:exon6:c.833delA:p.X278X 0.49 0.44 0.42 0.52 0.52 0.55 0.4919 0.4562 0.4548 0.4910 0.4918 0.5019 0.4897 0.4993 . . . . . rs71403164 COSM1399893 2(kidney);2(upper_aerodigestive_tract);2(central_nervous_system);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4868 0.4543 0.4497 0.4958 0.4866 0.4874 0.4969 0.4892 0.4887 0.4795 0.3679 0.3640 0.5534 0.5632 0.5333 0.5313 0.5027 hom 250.54 37 2 152236045 . TA T 250.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.060;DP=37;FS=0.000;HRun=14;HaplotypeScore=112.9539;MQ=56.06;MQ0=0;MQRankSum=1.258;QD=6.77;ReadPosRankSum=-0.419;set=variant2 GT:AD:DP:GQ:PL 1/1:16,18:37:3.78:290,4,0 2 152311570 152311570 G A exonic RIF1 nonsynonymous SNV RIF1:NM_001177665:exon21:c.G2506A:p.G836S,RIF1:NM_001177663:exon22:c.G2506A:p.G836S,RIF1:NM_001177664:exon22:c.G2506A:p.G836S,RIF1:NM_018151:exon22:c.G2506A:p.G836S 0.64 0.58 0.71 0.76 0.68 0.52 0.6607 0.5854 0.7744 0.7801 0.6909 0.6633 0.6641 0.5432 0.63 0.58 0.66 0.65 0.66 rs2444263 COSM5941193 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.154 B 0.0 0.080 B 0.024 0.263 N 1 0.090 P -1.7 0.004 N -4.91 0.984 D 0.9 0.016 N 0.025 0.352 -0.999 0.301 T 0.000 0.000 T . . . 0.933 0.183 10.27 0.208 0.008 0.018 0.056 N c -0.804 -0.723 0.936 0.272 0.707 0.730 0 3.18 0.355 0.794 0.264 0.240 0.266 0.005 0.169 0.864 0.361 8.741 0.335 Armadillo-type fold ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.6674 0.5827 0.7661 0.6413 0.7760 0.6857 0.6643 0.6854 0.5442 0.6579 0.5809 0.7650 0.6533 0.7735 0.6880 0.6771 0.6609 het 2161.78 171 2 152311570 . G A 2161.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.528;DP=171;Dels=0.00;FS=0.579;HRun=0;HaplotypeScore=2.8132;MQ=59.49;MQ0=0;MQRankSum=-0.642;QD=12.64;ReadPosRankSum=1.720;VQSLOD=6.0348;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,85:171:99:2192,0,2035 2 152320118 152320118 G A exonic RIF1 nonsynonymous SNV RIF1:NM_001177665:exon29:c.G4084A:p.V1362M,RIF1:NM_001177663:exon30:c.G4084A:p.V1362M,RIF1:NM_001177664:exon30:c.G4084A:p.V1362M,RIF1:NM_018151:exon30:c.G4084A:p.V1362M 0.64 0.58 0.71 0.76 0.68 0.52 0.6615 0.5880 0.7746 0.7809 0.6912 0.6633 0.6626 0.5456 0.63 0.58 0.66 0.64 0.61 rs2123465 . . . . . . . . . . . . . 0.374 0.114 T 0.0 0.154 B 0.002 0.179 B 0.050 0.020 N 1 0.090 P 1.7 0.440 L 1.32 0.352 T -0.53 0.170 N 0.015 0.004 -0.972 0.368 T 0.000 0.000 T . . . -1.170 0.026 0.007 0.583 0.058 0.079 0.137 N c -1.491 -1.588 0.956 0.282 0.707 0.730 0 -5.84 0.021 -0.356 0.076 -0.513 0.050 0.000 0.063 0.043 0.159 11.108 0.472 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.6678 0.5847 0.7658 0.6391 0.7764 0.6863 0.6643 0.6859 0.5465 0.6577 0.5826 0.7661 0.6457 0.7736 0.6881 0.6759 0.6602 het 941.04 66 2 152320118 . G A 941.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.428;DP=66;Dels=0.00;FS=1.998;HRun=1;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;MQRankSum=-1.323;QD=14.26;ReadPosRankSum=2.094;VQSLOD=4.4484;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,35:66:99:971,0,849 2 152322095 152322095 A T exonic RIF1 nonsynonymous SNV RIF1:NM_001177665:exon29:c.A6061T:p.N2021Y,RIF1:NM_001177663:exon30:c.A6061T:p.N2021Y,RIF1:NM_001177664:exon30:c.A6061T:p.N2021Y,RIF1:NM_018151:exon30:c.A6061T:p.N2021Y 0.66 0.58 0.74 0.76 0.73 0.53 0.7067 0.6007 0.7971 0.7826 0.7235 0.7299 0.7018 0.5706 0.68 0.59 0.73 0.71 0.64 rs2444257 . . . . . . . . . . . . . 0.52 0.072 T 0.0 0.026 B 0.0 0.013 B 0.036 0.018 N 1 0.090 P -0.345 0.033 N 3.02 0.090 T 0.86 0.023 N 0.027 0.318 -1.008 0.275 T 0.000 0.000 T . . . -2.145 0.006 0.001 0.178 0.005 0.005 0.022 N c -2.098 -2.057 0.136 0.172 0.707 0.730 0 -2.42 0.061 -0.748 0.049 -0.672 0.039 0.000 0.063 0.001 0.043 1.284 0.019 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.7111 0.5963 0.7889 0.6872 0.7786 0.7173 0.7317 0.7318 0.5707 0.6953 0.5933 0.7888 0.6987 0.7760 0.7222 0.7336 0.7041 het 533.49 48 2 152322095 . A T 533.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.265;DP=48;Dels=0.00;FS=6.227;HRun=1;HaplotypeScore=0.8941;MQ=58.73;MQ0=0;MQRankSum=0.052;QD=11.11;ReadPosRankSum=1.265;VQSLOD=4.3752;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,20:48:99:563,0,725 2 152331418 152331418 C G exonic RIF1 nonsynonymous SNV RIF1:NM_001177665:exon34:c.C7174G:p.L2392V,RIF1:NM_001177663:exon35:c.C7174G:p.L2392V,RIF1:NM_001177664:exon35:c.C7174G:p.L2392V,RIF1:NM_018151:exon36:c.C7252G:p.L2418V 0.66 0.57 0.74 0.76 0.73 0.53 0.7070 0.5992 0.7967 0.7809 0.7241 0.7304 0.6982 0.5719 0.68 0.59 0.73 0.71 0.59 rs1065177 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.080 B 0.134 0.185 N 1 0.090 P -0.28 0.037 N 2.88 0.111 T 0.03 0.072 N 0.029 0.225 -1.010 0.270 T 0.000 0.000 T . . . -1.125 0.027 0.009 0.123 0.002 0.016 0.051 N c -1.845 -1.844 1.000 0.747 0.707 0.730 0 -6.16 0.019 -1.942 0.016 -1.082 0.019 0.000 0.063 0.970 0.461 5.004 0.135 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.7102 0.5898 0.7883 0.6867 0.7780 0.7170 0.7311 0.7307 0.5702 0.6940 0.5884 0.7883 0.6987 0.7763 0.7223 0.7337 0.7049 het 476.97 33 2 152331418 . C G 476.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.790;DP=33;Dels=0.00;FS=8.742;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=1.139;QD=14.45;ReadPosRankSum=-0.271;VQSLOD=4.4694;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:507,0,437 2 152346979 152346979 T C exonic NEB nonsynonymous SNV NEB:NM_004543:exon147:c.A19600G:p.I6534V,NEB:NM_001164507:exon180:c.A25204G:p.I8402V,NEB:NM_001164508:exon180:c.A25204G:p.I8402V,NEB:NM_001271208:exon181:c.A25309G:p.I8437V 0.33 0.46 0.35 0.25 0.37 0.2 0.4136 0.4743 0.4079 0.3032 0.4416 0.4502 0.3975 0.2697 0.42 0.43 0.41 0.37 . rs1061305 COSM5428592;COSM5428593;COSM5428591 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081132.10|RCV000398581.1 MedGen|MedGen CN169374|CN239479 . . . . . . 0.379 0.258 T 0.0 0.158 B 0.0 0.229 B 0.009 0.304 N 0.474 0.319 P 0.55 0.145 N 3.5 0.058 T -0.25 0.114 N 0.036 0.203 -0.957 0.397 T 0.000 0.000 T . . . 1.308 0.222 12.31 0.936 0.228 0.604 0.309 D c -0.670 -0.531 0.044 0.146 0.615 0.372 0 0.397 0.155 -0.715 0.051 0.868 0.378 0.630 0.278 0.998 0.697 5.483 0.159 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.3669 0.4371 0.3627 0.2938 0.2631 0.3790 0.4164 0.3705 0.2302 0.4068 0.4268 0.3549 0.3013 0.2454 0.3923 0.4233 0.3719 het 271.32 23 2 152346979 . T C 271.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DP=23;Dels=0.00;FS=1.648;HRun=0;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;MQRankSum=-0.831;QD=11.80;ReadPosRankSum=0.523;VQSLOD=6.0946;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:301,0,311 2 152352843 152352843 C G exonic NEB nonsynonymous SNV NEB:NM_004543:exon140:c.G18829C:p.A6277P,NEB:NM_001164507:exon173:c.G24433C:p.A8145P,NEB:NM_001164508:exon173:c.G24433C:p.A8145P,NEB:NM_001271208:exon174:c.G24538C:p.A8180P 0.63 0.59 0.69 0.75 0.65 0.48 0.6499 0.5989 0.7603 0.7772 0.6865 0.6488 0.6444 0.5238 0.63 0.59 0.64 0.63 . rs7575451 COSM4154529;COSM4154531;COSM4154530 1(kidney) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081126.10|RCV000266979.1 MedGen|MedGen CN169374|CN239479 . . . . . . 0.936 0.342 T 0.0 0.026 B 0.0 0.040 B . . . 1.000 0.196 P -1.405 0.006 N 3.44 0.096 T 2.37 0.008 N 0.315 0.702 -1.033 0.193 T 0.000 0.000 T . . . 3.599 0.490 23.2 0.981 0.374 0.220 0.214 N c -0.382 -0.280 0.020 0.132 0.487 0.133 0 4.11 0.472 1.994 0.401 0.123 0.211 0.991 0.370 0.995 0.604 10.384 0.431 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6485 0.5920 0.7540 0.5770 0.7721 0.6758 0.6445 0.6583 0.5075 0.6500 0.5877 0.7530 0.5795 0.7717 0.6821 0.6613 0.6477 het 337.78 34 2 152352843 . C G 337.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3302;MQ=58.76;MQ0=0;MQRankSum=-0.382;QD=9.93;ReadPosRankSum=1.249;VQSLOD=5.2961;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,15:34:99:368,0,500 2 152387553 152387553 T C exonic NEB synonymous SNV NEB:NM_004543:exon117:c.A16446G:p.T5482T,NEB:NM_001164507:exon145:c.A21585G:p.T7195T,NEB:NM_001164508:exon145:c.A21585G:p.T7195T,NEB:NM_001271208:exon146:c.A21690G:p.T7230T 0.49 0.35 0.66 0.56 0.62 0.36 0.5830 0.3977 0.7277 0.5825 0.6484 0.6176 0.6005 0.4196 0.55 0.41 0.62 0.52 . rs4664475 . . other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081120.9|RCV000375369.1 MedGen|MedGen CN169374|CN239479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5887 0.3885 0.7245 0.5246 0.5811 0.6384 0.6210 0.6107 0.4081 0.5630 0.3837 0.7177 0.5166 0.5636 0.6445 0.6377 0.6045 het 788.50 72 2 152387553 . T C 788.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.655;DP=72;Dels=0.00;FS=3.254;HRun=0;HaplotypeScore=7.2560;MQ=57.23;MQ0=0;MQRankSum=0.565;QD=10.95;ReadPosRankSum=-0.057;VQSLOD=3.9661;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:39,33:72:99:818,0,855 2 152422076 152422076 C G exonic NEB nonsynonymous SNV NEB:NM_004543:exon88:c.G13166C:p.R4389T,NEB:NM_001164507:exon116:c.G18305C:p.R6102T,NEB:NM_001164508:exon116:c.G18305C:p.R6102T,NEB:NM_001271208:exon116:c.G18305C:p.R6102T 0.65 0.61 0.7 0.78 0.68 0.52 0.6707 0.6339 0.7729 0.8002 0.7051 0.6676 0.6775 0.5530 0.65 0.62 0.66 0.65 . rs2288210 COSM4154535;COSM4154536;COSM4154537 1(haematopoietic_and_lymphoid_tissue);1(kidney) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081115.10|RCV000293399.1 MedGen|MedGen CN169374|CN239479 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.192 P -2.6 0.000 N 3.89 0.037 T 2.37 0.003 N 0.102 0.766 -0.998 0.306 T 0.000 0.000 T . . . 1.906 0.290 15.63 0.488 0.040 0.174 0.196 N c -0.730 -0.373 0.834 0.247 0.554 0.246 0 5.28 0.740 5.831 0.688 0.136 0.221 1.000 0.715 0.999 0.750 13.998 0.638 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000183091.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6670 0.6169 0.7665 0.5653 0.7934 0.6953 0.6646 0.6744 0.5329 0.6716 0.6153 0.7601 0.5728 0.7938 0.6926 0.6829 0.6772 het 509.53 29 2 152422076 . C G 509.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.308;DP=29;Dels=0.00;FS=6.262;HRun=0;HaplotypeScore=0.9933;MQ=58.70;MQ0=0;MQRankSum=0.803;QD=17.57;ReadPosRankSum=1.950;VQSLOD=3.8010;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,19:29:99:540,0,252 2 152432311 152432311 T C exonic NEB synonymous SNV NEB:NM_004543:exon79:c.A11772G:p.P3924P,NEB:NM_001164507:exon107:c.A16911G:p.P5637P,NEB:NM_001164508:exon107:c.A16911G:p.P5637P,NEB:NM_001271208:exon107:c.A16911G:p.P5637P 0.11 0.011 0.13 0.004 0.24 0.21 0.1984 0.0411 0.0931 0.0010 0.2528 0.2562 0.2194 0.2122 0.19 0.046 0.25 0.11 . rs33988153 COSM3757670;COSM3757669;COSM3757668 1(large_intestine) other|Likely benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081112.10|RCV000333036.1 MedGen|MedGen CN169374|CN239479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1971 0.0403 0.1018 0.2884 0.0009 0.2531 0.2532 0.2130 0.2137 0.1751 0.0473 0.1283 0.2748 0.0012 0.2520 0.2476 0.2290 het 2056.97 181 2 152432311 . T C 2056.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.072;DP=181;DS;Dels=0.00;FS=0.656;HRun=0;HaplotypeScore=3.9914;MQ=58.73;MQ0=0;MQRankSum=-0.674;QD=11.36;ReadPosRankSum=-0.407;VQSLOD=5.4825;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,87:181:99:2087,0,2603 2 152476028 152476028 C G exonic NEB nonsynonymous SNV NEB:NM_004543:exon69:c.G10044C:p.W3348C,NEB:NM_001164507:exon73:c.G10809C:p.W3603C,NEB:NM_001164508:exon73:c.G10809C:p.W3603C,NEB:NM_001271208:exon73:c.G10809C:p.W3603C 0.22 0.13 0.25 0.24 0.31 0.21 0.2891 0.1427 0.3217 0.2573 0.3506 0.3200 0.3163 0.2187 0.27 0.14 0.33 0.23 . rs10172023 COSM4416098;COSM4416096;COSM4416097 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081108.10|RCV000276282.1 MedGen|MedGen CN169374|CN239479 . . . . . . 0.006 0.784 D 1.0 0.899 D 0.995 0.818 D 0.000 0.629 D 0.000 0.588 P 3.32 0.909 M 1.46 0.322 T -5.24 0.839 D 0.308 0.779 -1.099 0.042 T 0.000 0.000 T . . . 5.710 0.779 26.8 0.989 0.480 0.065 0.124 N c 0.659 0.578 1.0 0.983 0.581 0.330 0 5.61 0.853 3.218 0.506 0.935 0.490 1.000 0.715 0.959 0.439 16.270 0.824 . ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13|ENSG00000080345.13 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cortex|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.2926 0.1374 0.3194 0.2340 0.2631 0.3404 0.3271 0.3021 0.2152 0.2765 0.1368 0.3174 0.2285 0.2525 0.3400 0.3418 0.3133 het 2806.29 222 2 152476028 . C G 2806.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.389;DP=222;Dels=0.00;FS=1.657;HRun=0;HaplotypeScore=5.6285;MQ=59.56;MQ0=0;MQRankSum=-0.500;QD=12.64;ReadPosRankSum=-0.706;VQSLOD=4.6954;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,103:222:99:2836,0,3274 2 152527572 152527572 C T exonic NEB nonsynonymous SNV NEB:NM_001164507:exon38:c.G4471A:p.V1491M,NEB:NM_001164508:exon38:c.G4471A:p.V1491M,NEB:NM_001271208:exon38:c.G4471A:p.V1491M,NEB:NM_004543:exon38:c.G4471A:p.V1491M 0.53 0.2 0.84 0.38 0.82 0.64 0.7386 0.2824 0.8616 0.4071 0.8694 0.8357 0.7744 0.6491 0.66 0.32 0.83 0.5 . rs7426114 COSM4001233;COSM4001232;COSM4001231 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081137.10|RCV000348796.1 MedGen|MedGen CN169374|CN239479 . . . . . . 0.03 0.453 D 0.82 0.437 P 0.42 0.433 B 0.000 0.481 D 0.077 0.367 P 2.325 0.668 M 3.22 0.070 T -1.14 0.301 N 0.137 0.379 -1.161 0.007 T 0.000 0.000 T . . . 5.308 0.718 25.8 0.999 0.971 0.931 0.570 D c 0.427 0.488 1.000 0.747 0.603 0.348 0 5.42 0.786 3.389 0.520 0.852 0.362 1.000 0.715 0.996 0.625 14.785 0.693 . . . 0.7518 0.2766 0.8595 0.7490 0.4097 0.8607 0.8413 0.7839 0.6537 0.6642 0.2882 0.8609 0.7450 0.4091 0.8606 0.8429 0.7943 hom 4371.02 143 2 152527572 . C T 4371.02 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4725;MQ=58.78;MQ0=0;QD=30.57;VQSLOD=8.8454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4370,346,0 2 152531077 152531077 A G exonic NEB nonsynonymous SNV NEB:NM_001164507:exon36:c.T3901C:p.Y1301H,NEB:NM_001164508:exon36:c.T3901C:p.Y1301H,NEB:NM_001271208:exon36:c.T3901C:p.Y1301H,NEB:NM_004543:exon36:c.T3901C:p.Y1301H 0.72 0.59 0.92 0.58 0.88 0.7 0.8265 0.6398 0.9142 0.5903 0.8893 0.8911 0.8497 0.7114 0.82 0.66 0.89 0.71 . rs6711382 COSM4001236;COSM4001234;COSM4001235 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000153548.3 MedGen CN169374 . . . . . . 0.456 0.088 T 0.0 0.026 B 0.002 0.063 B 0.002 0.371 N 1 0.090 P -1.385 0.006 N 0.91 0.449 T 1.88 0.005 N 0.037 0.193 -0.984 0.342 T 0.000 0.000 T . . . 1.671 0.262 14.24 0.958 0.273 0.039 0.092 N c -0.654 -0.393 0.995 0.339 0.554 0.246 0 5.52 0.821 1.865 0.389 0.138 0.222 1.000 0.715 0.994 0.587 7.258 0.252 . . . 0.8340 0.6392 0.9142 0.8401 0.5958 0.8827 0.8948 0.8524 0.7152 0.8055 0.6410 0.9055 0.8510 0.5892 0.8883 0.8950 0.8605 hom 2686.02 86 2 152531077 . A G 2686.02 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.57;MQ0=0;QD=31.23;VQSLOD=9.2766;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2719,205,0 2 152536498 152536498 T A exonic NEB nonsynonymous SNV NEB:NM_001164507:exon31:c.A3081T:p.K1027N,NEB:NM_001164508:exon31:c.A3081T:p.K1027N,NEB:NM_001271208:exon31:c.A3081T:p.K1027N,NEB:NM_004543:exon31:c.A3081T:p.K1027N 0.58 0.33 0.87 0.46 0.81 0.62 0.7499 0.3860 0.8796 0.4832 0.8684 0.8305 0.7884 0.6387 0.7 0.43 0.83 0.58 . rs6735208 . . other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081134.10|RCV000265121.1 MedGen|MedGen CN169374|CN239479 . . . . . . 0.131 0.266 T 0.982 0.581 D 0.855 0.591 P 0.000 0.843 D 0.016 0.401 P 1.65 0.424 L 3.22 0.070 T -2.03 0.534 N 0.084 0.254 -1.010 0.271 T 0.000 0.000 T . . . 3.606 0.491 23.2 0.998 0.877 0.334 0.246 N c -0.196 -0.302 0.142 0.173 0.554 0.246 0 -1.62 0.079 -0.548 0.061 -0.136 0.110 0.162 0.236 0.997 0.653 10.153 0.418 . . . 0.7616 0.3805 0.8766 0.7370 0.4874 0.8601 0.8354 0.7872 0.6435 0.6939 0.3867 0.8711 0.7318 0.4932 0.8647 0.8361 0.8043 hom 1860.45 58 2 152536498 . T A 1860.45 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;QD=32.08;VQSLOD=9.0413;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1893,150,0 2 152573981 152573981 A G exonic NEB synonymous SNV NEB:NM_001164507:exon10:c.T771C:p.A257A,NEB:NM_001164508:exon10:c.T771C:p.A257A,NEB:NM_001271208:exon10:c.T771C:p.A257A,NEB:NM_004543:exon10:c.T771C:p.A257A 0.57 0.27 0.85 0.47 0.81 0.63 0.7438 0.3415 0.8663 0.4735 0.8600 0.8293 0.7835 0.6424 0.69 0.38 0.83 0.56 . rs4611637 COSM4001250;COSM4001251;COSM4001249 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Nemaline_Myopathy\x2c_Recessive RCV000081142.10|RCV000374203.1 MedGen|MedGen CN169374|CN239479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7555 0.3390 0.8633 0.7378 0.4742 0.8524 0.8347 0.7849 0.6452 0.6784 0.3451 0.8604 0.7351 0.4548 0.8545 0.8362 0.7965 hom 2239.50 77 2 152573981 . A G 2239.50 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=53.76;MQ0=0;QD=29.08;VQSLOD=5.6472;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2273,184,0 2 153378459 153378459 T C exonic FMNL2 synonymous SNV FMNL2:NM_052905:exon2:c.T120C:p.N40N 0.69 0.64 0.77 0.75 0.67 0.66 0.6840 0.6436 0.8485 0.7378 0.6984 0.6529 0.7227 0.6827 0.65 0.64 0.66 0.62 . rs4664114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6935 0.6454 0.8308 0.6059 0.7376 0.7033 0.6618 0.6788 0.6817 0.6801 0.6398 0.7828 0.5762 0.7317 0.7147 0.6868 0.6724 hom 1331.22 49 2 153378459 . T C 1331.22 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.17;VQSLOD=13.8365;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1364,105,0 2 153405594 153405594 G A exonic FMNL2 synonymous SNV FMNL2:NM_052905:exon4:c.G342A:p.L114L 0.65 0.49 0.67 0.8 0.59 0.78 0.6537 0.5038 0.7590 0.8240 0.7416 0.6067 0.6244 0.7348 0.56 0.49 0.59 0.58 . rs1155779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6466 0.4875 0.7428 0.4959 0.8134 0.7421 0.5912 0.5917 0.7189 0.6036 0.4924 0.7022 0.4967 0.8234 0.7431 0.6057 0.6493 het 124 24 2 153405594 . G A 124 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.967;DP=24;Dels=0.00;FS=1.973;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=0.367;QD=5.17;ReadPosRankSum=0.100;VQSLOD=4.7377;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,6:24:99:154,0,482 2 157406249 157406249 G A exonic GPD2 nonsynonymous SNV GPD2:NM_000408:exon7:c.G791A:p.R264H,GPD2:NM_001083112:exon7:c.G791A:p.R264H 0.66 0.48 0.7 0.78 0.69 0.7 0.6831 0.4801 0.7326 0.7979 0.6487 0.6988 0.6707 0.6679 0.63 0.47 0.71 0.61 0.75 rs2116665 COSM148959 1(breast);1(stomach);1(prostate) . . . . . . . . . . . 0.082 0.332 T 0.02 0.170 B 0.013 0.154 B 0.002 0.383 N 0.142 0.356 P 1.395 0.354 L -0.27 0.674 T -1.55 0.375 N 0.086 0.114 -0.981 0.347 T 0.000 0.000 T . . . 1.173 0.207 11.61 0.986 0.437 0.877 0.471 D c -0.455 -0.414 0.361 0.198 0.706 0.609 0 3.17 0.354 2.019 0.404 1.048 0.713 0.943 0.325 0.004 0.083 10.145 0.417 FAD dependent oxidoreductase|FAD/NAD(P)-binding domain . . 0.6904 0.4727 0.7342 0.7455 0.8 0.6380 0.7023 0.7058 0.6644 0.6378 0.4799 0.7285 0.7550 0.7986 0.6415 0.7018 0.6690 het 1050.53 80 2 157406249 . G A 1050.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.392;DP=80;Dels=0.00;FS=1.468;HRun=0;HaplotypeScore=3.3240;MQ=58.25;MQ0=0;MQRankSum=-1.041;QD=13.13;ReadPosRankSum=2.842;VQSLOD=3.1811;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,38:80:99:1081,0,1206 2 158157361 158157361 C T exonic GALNT5 synonymous SNV GALNT5:NM_014568:exon7:c.C2289T:p.H763H,GALNT5:NM_001329868:exon8:c.C879T:p.H293H 0.8 0.57 0.8 0.84 0.93 0.93 0.8651 0.6066 0.7272 0.8130 0.8486 0.9216 0.8833 0.9287 0.82 0.63 0.92 0.77 0.93 rs3214040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8648 0.6067 0.7439 0.9488 0.8173 0.8493 0.9204 0.8816 0.9311 0.8101 0.6068 0.7854 0.9470 0.8216 0.8525 0.9108 0.8786 hom 2312.59 69 2 158157361 . C T 2312.59 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2611;MQ=59.67;MQ0=0;QD=33.52;VQSLOD=9.5308;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2346,190,0 2 158443889 158443889 G A exonic ACVR1C synonymous SNV ACVR1C:NM_001111032:exon2:c.C114T:p.F38F,ACVR1C:NM_001111033:exon2:c.C114T:p.F38F,ACVR1C:NM_145259:exon2:c.C114T:p.F38F 0.44 0.7 0.43 0.32 0.39 0.27 0.3879 0.6641 0.4224 0.3073 0.2953 0.3894 0.3590 0.2643 0.48 0.66 0.4 0.47 0.25 rs4556933 COSM3757690 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3852 0.6704 0.4216 0.4064 0.3142 0.2922 0.3948 0.3748 0.2708 0.4537 0.6536 0.4354 0.4073 0.3267 0.3026 0.3931 0.3786 het 2983.26 200 2 158443889 . G A 2983.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.849;DP=200;DS;Dels=0.00;FS=2.211;HRun=2;HaplotypeScore=4.5200;MQ=59.19;MQ0=0;MQRankSum=0.696;QD=14.92;ReadPosRankSum=-1.787;VQSLOD=5.2182;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,110:200:99:3013,0,2473 2 158626980 158626980 C T exonic ACVR1 synonymous SNV ACVR1:NM_001105:exon7:c.G690A:p.E230E,ACVR1:NM_001111067:exon7:c.G690A:p.E230E,ACVR1:NM_001347663:exon7:c.G690A:p.E230E,ACVR1:NM_001347664:exon8:c.G690A:p.E230E,ACVR1:NM_001347665:exon8:c.G690A:p.E230E,ACVR1:NM_001347666:exon8:c.G690A:p.E230E,ACVR1:NM_001347667:exon8:c.G690A:p.E230E 0.91 0.74 0.96 0.97 0.99 0.98 0.9642 0.7564 0.9832 0.9682 0.9849 0.9886 0.9681 0.9724 0.91 0.76 0.99 0.9 0.98 rs1146031 . . Benign|Benign not_specified|Progressive_myositis_ossificans RCV000246664.1|RCV000321286.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0016037:135100:ORPHA337:82725007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9695 0.7558 0.9837 0.9818 0.9714 0.9852 0.9890 0.9743 0.9725 0.9196 0.7572 0.9702 0.9735 0.9722 0.9814 0.9871 0.9613 hom 3876.69 120 2 158626980 . C T 3876.69 Mask AC=2;AF=1.00;AN=2;DP=120;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9159;MQ=59.03;MQ0=0;QD=32.31;VQSLOD=9.8969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3876,310,0 2 158636910 158636910 G A exonic ACVR1 synonymous SNV ACVR1:NM_001105:exon4:c.C270T:p.A90A,ACVR1:NM_001111067:exon4:c.C270T:p.A90A,ACVR1:NM_001347663:exon4:c.C270T:p.A90A,ACVR1:NM_001347664:exon5:c.C270T:p.A90A,ACVR1:NM_001347665:exon5:c.C270T:p.A90A,ACVR1:NM_001347666:exon5:c.C270T:p.A90A,ACVR1:NM_001347667:exon5:c.C270T:p.A90A 0.65 0.18 0.77 0.91 0.78 0.8 0.7502 0.2678 0.8339 0.9279 0.7892 0.7654 0.7830 0.8223 0.6 0.28 0.77 0.59 0.75 rs2227861 . . Benign|Benign not_specified|Progressive_myositis_ossificans RCV000251311.1|RCV000349595.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0016037:135100:ORPHA337:82725007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7629 0.2559 0.8296 0.8061 0.9276 0.7812 0.7620 0.7599 0.8269 0.6417 0.2750 0.8019 0.8245 0.9333 0.7812 0.7692 0.7710 hom 4135.17 121 2 158636910 . G A 4135.17 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7323;MQ=59.62;MQ0=0;QD=34.17;VQSLOD=9.4210;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:4135,328,0 2 159166069 159166069 T C exonic CCDC148 nonsynonymous SNV CCDC148:NM_001301684:exon7:c.A548G:p.K183R,CCDC148:NM_138803:exon9:c.A986G:p.K329R 0.96 0.93 0.94 1. 0.95 0.97 0.9556 0.9345 0.9675 0.9933 0.9453 0.9475 0.9515 0.9780 0.95 0.93 0.95 0.98 0.96 rs7559772 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.003 0.080 B . . . 1.000 0.090 P -1.715 0.003 N 2.14 0.194 T 0.95 0.015 N 0.044 0.044 -0.955 0.401 T 0.000 0.000 T . . . -1.398 0.019 0.003 0.066 0.000 0.049 0.106 N c -1.462 -1.178 0.039 0.144 0.554 0.246 0 3.84 0.433 2.186 0.420 -0.323 0.076 0.989 0.365 0.732 0.317 13.444 0.604 . . . 0.9565 0.9331 0.9650 0.9492 0.9940 0.9419 0.9490 0.9504 0.9788 0.9522 0.9402 0.9535 0.9404 0.9945 0.9442 0.9560 0.9603 hom 3657.16 110 2 159166069 . T C 3657.16 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.54;MQ0=0;QD=33.25;VQSLOD=9.3001;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3657,283,0 2 159663599 159663599 T C exonic DAPL1 nonsynonymous SNV DAPL1:NM_001017920:exon3:c.T179C:p.L60P 0.59 0.54 0.62 0.8 0.43 0.58 0.5072 0.5541 0.7141 0.7918 0.3829 0.4227 0.4868 0.5754 0.47 0.55 0.43 0.6 0.4 rs9869 COSM3721405 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.045 0.473 D 0.763 0.417 P 0.549 0.474 P 0.019 0.274 N 0.000 0.588 P 2.015 0.552 M 1.51 0.309 T -1.55 0.763 N 0.186 0.264 -1.102 0.039 T 0.000 0.000 T . . . 5.751 0.786 27.0 0.999 0.974 0.905 0.515 D c 0.376 0.427 0.760 0.235 0.487 0.133 0 5.64 0.864 4.144 0.576 1.058 0.762 0.998 0.411 0.603 0.289 14.108 0.645 . ENSG00000251491.2|ENSG00000251491.2|ENSG00000251491.2|ENSG00000251491.2|ENSG00000251491.2|ENSG00000243792.1|ENSG00000251491.2|ENSG00000243792.1|ENSG00000251491.2|ENSG00000243792.1|ENSG00000251491.2|ENSG00000163331.6 Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Esophagus_Mucosa|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.5122 0.5555 0.6955 0.4057 0.7970 0.3894 0.4260 0.4765 0.5753 0.4844 0.5515 0.6663 0.3940 0.8066 0.4002 0.4226 0.4735 het 1467.62 116 2 159663599 . T C 1467.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.341;DP=116;Dels=0.00;FS=0.721;HRun=1;HaplotypeScore=1.6545;MQ=58.57;MQ0=0;MQRankSum=0.434;QD=12.65;ReadPosRankSum=0.456;VQSLOD=6.3614;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,60:116:99:1498,0,1384 2 159663616 159663616 G A exonic DAPL1 nonsynonymous SNV DAPL1:NM_001017920:exon3:c.G196A:p.A66T 0.11 0.017 0.14 0.032 0.3 0.11 0.2271 0.0479 0.1055 0.0219 0.3290 0.3148 0.2345 0.1368 0.22 0.058 0.3 0.11 0.28 rs12535 COSM3757693 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.055 T 0.0 0.026 B 0.0 0.013 B 0.225 0.160 N 1.000 0.090 P -0.86 0.015 N 1.41 0.334 T -0.11 0.087 N 0.024 0.310 -0.932 0.438 T 0.000 0.000 T . . . -0.296 0.069 0.678 0.612 0.065 0.006 0.026 N c -0.923 -0.902 0.000 0.054 0.487 0.133 0 1.93 0.249 0.331 0.193 -0.681 0.039 0.070 0.219 0.236 0.225 4.509 0.112 . ENSG00000251491.2|ENSG00000251491.2|ENSG00000251491.2|ENSG00000251491.2|ENSG00000163331.6 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2268 0.0449 0.1204 0.2612 0.0205 0.3270 0.3160 0.2501 0.1357 0.2236 0.0533 0.1196 0.3046 0.0253 0.3081 0.3257 0.2684 het 1193.78 116 2 159663616 . G A 1193.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DP=116;Dels=0.00;FS=3.521;HRun=0;HaplotypeScore=2.3974;MQ=58.57;MQ0=0;MQRankSum=1.101;QD=10.29;ReadPosRankSum=-0.555;VQSLOD=5.8294;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,54:116:99:1224,0,1393 2 160019863 160019863 A G exonic TANC1 nonsynonymous SNV TANC1:NM_001145909:exon8:c.A749G:p.N250S,TANC1:NM_001350064:exon8:c.A752G:p.N251S,TANC1:NM_033394:exon8:c.A752G:p.N251S,TANC1:NM_001350065:exon9:c.A752G:p.N251S 0.98 0.95 1. 1. 1. 0.97 0.9907 0.9583 0.9959 0.9999 0.9998 0.9969 0.9933 0.9724 0.99 0.97 1. 0.99 0.98 rs12466551 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.195 P -0.885 0.014 N 1.24 0.367 T 0.08 0.060 N 0.007 0.003 -0.933 0.437 T 0.000 0.000 T . . . 0.117 0.105 3.785 0.317 0.018 0.161 0.190 N c -0.743 -0.400 1.000 0.747 0.672 0.522 0 5.16 0.704 5.686 0.677 0.138 0.222 1.000 0.715 0.999 0.750 12.987 0.578 . . . 0.9911 0.9569 0.9939 0.9969 0.9999 0.9997 0.9965 0.9936 0.9723 0.9857 0.9561 0.9881 0.9934 1 1 0.9971 0.9939 hom 3961.82 129 2 160019863 . A G 3961.82 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3657;MQ=58.91;MQ0=0;QD=30.71;VQSLOD=7.7475;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:129:99:3961,304,0 2 160035207 160035207 T C exonic TANC1 synonymous SNV TANC1:NM_001350062:exon11:c.T1440C:p.N480N,TANC1:NM_001350063:exon12:c.T1674C:p.N558N,TANC1:NM_001145909:exon14:c.T2019C:p.N673N,TANC1:NM_001350064:exon14:c.T2022C:p.N674N,TANC1:NM_033394:exon14:c.T2043C:p.N681N,TANC1:NM_001350065:exon15:c.T2022C:p.N674N 0.98 0.95 0.99 1. 1. 0.97 0.9904 0.9556 0.9953 0.9999 0.9998 0.9969 0.9933 0.9723 0.99 0.96 1. 0.95 1. rs6748288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9908 0.9543 0.9933 0.9969 0.9999 0.9997 0.9964 0.9932 0.9722 0.9852 0.9547 0.9869 0.9934 1 1 0.9970 0.9939 hom 3719.30 112 2 160035207 . T C 3719.30 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.46;MQ0=0;QD=33.21;VQSLOD=9.4011;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3718,313,0 2 160112881 160112881 G T exonic WDSUB1 nonsynonymous SNV WDSUB1:NM_001330276:exon4:c.C589A:p.R197S,WDSUB1:NM_001307994:exon5:c.C682A:p.R228S,WDSUB1:NM_001330279:exon8:c.C451A:p.R151S,WDSUB1:NM_001330280:exon8:c.C244A:p.R82S,WDSUB1:NM_001128212:exon9:c.C958A:p.R320S,WDSUB1:NM_001128213:exon9:c.C958A:p.R320S,WDSUB1:NM_001330274:exon9:c.C958A:p.R320S,WDSUB1:NM_001330277:exon9:c.C697A:p.R233S,WDSUB1:NM_001330278:exon9:c.C958A:p.R320S,WDSUB1:NM_152528:exon9:c.C958A:p.R320S 0.47 0.74 0.37 0.27 0.54 0.32 0.5046 0.7289 0.3151 0.2466 0.3759 0.5781 0.5066 0.3854 0.62 0.72 0.57 0.56 0.55 rs7591849 COSM148963 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.783 0.036 T 0.0 0.026 B 0.0 0.013 B 0.049 0.232 N 1 0.090 P 0 0.065 N 0.66 0.571 T 0.61 0.125 N 0.037 0.101 -0.947 0.416 T 0.000 0.000 T . . . 2.077 0.311 16.71 0.876 0.168 0.001 0.005 N c -0.975 -0.800 1.000 0.747 0.706 0.609 0 4.37 0.517 0.068 0.143 0.152 0.238 0.000 0.063 0.910 0.387 6.652 0.220 Quinoprotein alcohol dehydrogenase-like superfamily|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6|ENSG00000196151.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.4912 0.7228 0.3241 0.6278 0.2493 0.3773 0.5821 0.4991 0.3870 0.5611 0.7148 0.3998 0.6192 0.2522 0.3673 0.5622 0.4949 hom 1883.99 68 2 160112881 . G T 1883.99 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=58.52;MQ0=0;QD=27.71;VQSLOD=7.9392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1917,150,0 2 160136337 160136337 G A exonic WDSUB1 nonsynonymous SNV WDSUB1:NM_001330279:exon2:c.C11T:p.P4L,WDSUB1:NM_001128212:exon3:c.C518T:p.P173L,WDSUB1:NM_001128213:exon3:c.C518T:p.P173L,WDSUB1:NM_001307994:exon3:c.C518T:p.P173L,WDSUB1:NM_001330274:exon3:c.C518T:p.P173L,WDSUB1:NM_001330276:exon3:c.C518T:p.P173L,WDSUB1:NM_001330277:exon3:c.C257T:p.P86L,WDSUB1:NM_001330278:exon3:c.C518T:p.P173L,WDSUB1:NM_152528:exon3:c.C518T:p.P173L 1. 1. 1. 1. 1. 1. 0.9999 0.9990 1 1 1 1 1 1 1. 1. 1. 0.98 1. rs174264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9991 1 1 1 1 1.0000 0.9998 1 0.9996 0.9987 1 1 1 1 1 1 hom 2180.22 78 2 160136337 . G A 2180.22 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.20;MQ0=0;QD=27.95;VQSLOD=8.3622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2213,163,0 2 160289863 160289863 T C exonic BAZ2B synonymous SNV BAZ2B:NM_001329857:exon8:c.A1116G:p.K372K,BAZ2B:NM_001289975:exon9:c.A1299G:p.K433K,BAZ2B:NM_001329858:exon9:c.A1305G:p.K435K,BAZ2B:NM_013450:exon9:c.A1305G:p.K435K 0.037 0.028 0.037 0.002 0.053 0.069 0.0522 0.0299 0.0360 0.0006 0.0245 0.0566 0.0742 0.0966 0.045 0.028 0.053 0.022 0.041 rs61733380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0519 0.0309 0.0383 0.0918 0.0005 0.0228 0.0559 0.0615 0.0989 0.0402 0.0341 0.0644 0.0762 0.0006 0.0261 0.0488 0.0458 het 1387.47 98 2 160289863 . T C 1387.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.363;DP=98;Dels=0.00;FS=3.174;HRun=0;HaplotypeScore=1.9726;MQ=59.10;MQ0=0;MQRankSum=0.874;QD=14.16;ReadPosRankSum=0.917;VQSLOD=6.0926;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,49:98:99:1417,0,1403 2 160599717 160599717 C G exonic MARCH7 nonsynonymous SNV MARCH7:NM_001282807:exon2:c.C185G:p.T62S,MARCH7:NM_001282806:exon3:c.C299G:p.T100S,MARCH7:NM_022826:exon3:c.C299G:p.T100S,MARCH7:NM_001282805:exon5:c.C299G:p.T100S 0.038 0.0038 0.045 0.024 0.086 0.046 0.0681 0.0140 0.0364 0.0282 0.1220 0.0868 0.0760 0.0482 0.061 0.016 0.085 0.022 0.09 rs17813964 COSM5021329 1(bone) . . . . . . . . . . . 0.498 0.481 T 0.996 0.670 D 0.98 0.732 D 0.059 0.223 N 0.997 0.268 N 1.32 0.331 L 2.68 0.502 T -0.13 0.107 N 0.084 0.168 -1.050 0.144 T 0.012 0.045 T . . . 1.430 0.235 12.94 0.899 0.186 0.991 0.908 D c 0.243 0.366 1.000 0.747 0.646 0.442 0 5.54 0.828 5.502 0.665 0.935 0.490 1.000 0.715 1.000 0.888 17.673 0.881 . ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000230783.1|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000230783.1|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.0688 0.0146 0.0379 0.0504 0.0298 0.1129 0.0899 0.0622 0.0495 0.0684 0.0172 0.0310 0.0633 0.0321 0.1112 0.093 0.0888 het 1669.22 128 2 160599717 . C G 1669.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.367;DP=128;Dels=0.00;FS=3.351;HRun=0;HaplotypeScore=6.0773;MQ=58.17;MQ0=0;MQRankSum=0.153;QD=13.04;ReadPosRankSum=2.319;VQSLOD=3.4439;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,61:128:99:1699,0,1802 2 160604452 160604452 C T exonic MARCH7 synonymous SNV MARCH7:NM_001282806:exon4:c.C483T:p.D161D,MARCH7:NM_001282807:exon4:c.C537T:p.D179D,MARCH7:NM_022826:exon5:c.C651T:p.D217D,MARCH7:NM_001282805:exon7:c.C651T:p.D217D 0.22 0.029 0.49 0.27 0.33 0.12 0.2872 0.0626 0.5201 0.2531 0.3531 0.3158 0.3183 0.1387 0.23 0.069 0.32 0.27 0.38 rs11555185 COSM148965 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3036 0.0598 0.5211 0.2313 0.2565 0.3589 0.3185 0.3290 0.1390 0.2448 0.0634 0.4557 0.2219 0.2444 0.3569 0.3106 0.2831 het 966.47 90 2 160604452 . C T 966.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.831;DP=90;Dels=0.00;FS=0.793;HRun=1;HaplotypeScore=1.9198;MQ=59.17;MQ0=0;MQRankSum=-0.226;QD=10.74;ReadPosRankSum=1.508;VQSLOD=6.3870;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,42:90:99:996,0,1238 2 160605268 160605268 T C exonic MARCH7 synonymous SNV MARCH7:NM_001282806:exon4:c.T1299C:p.P433P,MARCH7:NM_001282807:exon4:c.T1353C:p.P451P,MARCH7:NM_022826:exon5:c.T1467C:p.P489P,MARCH7:NM_001282805:exon7:c.T1467C:p.P489P 0.89 0.97 0.93 0.73 0.92 0.9 0.9124 0.9627 0.9347 0.7316 0.9354 0.9207 0.9229 0.9164 0.93 0.96 0.91 0.9 0.95 rs1365803 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9130 0.9659 0.9380 0.9328 0.7356 0.9351 0.9177 0.9150 0.9188 0.9231 0.9614 0.9308 0.9040 0.7203 0.9407 0.9184 0.9235 hom 8243.74 250 2 160605268 . T C 8243.74 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.592;DP=250;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.6843;MQ=58.87;MQ0=0;MQRankSum=0.838;QD=32.97;ReadPosRankSum=1.090;VQSLOD=8.2647;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8212,607,0 2 160673519 160673519 G A exonic LY75;LY75-CD302 nonsynonymous SNV LY75-CD302:NM_001198759:exon30:c.C4178T:p.T1393I,LY75-CD302:NM_001198760:exon30:c.C4178T:p.T1393I,LY75:NM_002349:exon30:c.C4178T:p.T1393I 0.035 0.003 0.045 0.025 0.074 0.043 0.0595 0.0119 0.0308 0.0279 0.1009 0.0749 0.0636 0.0466 0.051 0.012 0.07 0.022 0.057 rs35941588 COSM5021330 1(bone) . . . . . . . . . . . 0.196 0.207 T 0.414 0.339 B 0.15 0.325 B 0.438 0.047 N 1.000 0.198 N 2.2 0.622 M 2.28 0.173 T -1.34 0.334 N 0.275 0.333 -0.999 0.303 T 0.003 0.009 T . . . 2.067 0.309 16.64 0.988 0.464 0.823 0.413 D c -0.139 -0.050 0.992 0.327 0.732 0.924 0 1.44 0.215 1.818 0.384 0.079 0.188 0.974 0.344 0.901 0.381 10.426 0.434 C-type lectin fold|C-type lectin-like ENSG00000226266.2|ENSG00000054219.9|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Testis|Thyroid|Whole_Blood 0.0596 0.0122 0.0327 0.0455 0.0290 0.0961 0.0767 0.0561 0.0466 0.0579 0.0149 0.0227 0.0497 0.0303 0.0937 0.0781 0.0806 het 484.59 41 2 160673519 . G A 484.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.752;DP=41;Dels=0.00;FS=5.573;HRun=1;HaplotypeScore=1.7608;MQ=59.44;MQ0=0;MQRankSum=-1.500;QD=11.82;ReadPosRankSum=-2.699;VQSLOD=3.5169;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:515,0,620 2 160673526 160673526 A G exonic LY75;LY75-CD302 nonsynonymous SNV LY75-CD302:NM_001198759:exon30:c.T4171C:p.Y1391H,LY75-CD302:NM_001198760:exon30:c.T4171C:p.Y1391H,LY75:NM_002349:exon30:c.T4171C:p.Y1391H 0.21 0.029 0.48 0.22 0.33 0.11 0.2873 0.0641 0.5311 0.2120 0.3558 0.3196 0.3235 0.1361 0.23 0.07 0.31 0.26 0.33 rs2059696 COSM148967 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.267 0.162 T 0.003 0.144 B 0.013 0.154 B 0.109 0.195 N 0.984 0.248 P 1.065 0.271 L 2.3 0.170 T -0.63 0.219 N 0.169 0.204 -0.900 0.480 T 0.000 0.000 T . . . 4.008 0.539 23.6 0.973 0.329 0.529 0.290 D c -0.477 -0.312 0.994 0.332 0.732 0.924 0 1.99 0.253 0.864 0.274 0.237 0.263 0.998 0.411 0.992 0.562 5.911 0.181 C-type lectin fold|C-type lectin-like ENSG00000054219.9|ENSG00000224152.1|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Thyroid|Whole_Blood 0.2940 0.0586 0.5181 0.2170 0.2074 0.3556 0.3099 0.3193 0.1340 0.2395 0.0592 0.4459 0.2219 0.2016 0.3524 0.3084 0.2828 het 602.66 37 2 160673526 . A G 602.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.755;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.38;MQ0=0;MQRankSum=-0.751;QD=16.29;ReadPosRankSum=1.609;VQSLOD=6.3157;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,21:37:99:633,0,446 2 160676427 160676427 C A exonic LY75;LY75-CD302 nonsynonymous SNV LY75-CD302:NM_001198759:exon29:c.G3963T:p.K1321N,LY75-CD302:NM_001198760:exon29:c.G3963T:p.K1321N,LY75:NM_002349:exon29:c.G3963T:p.K1321N 0.85 0.9 0.88 0.91 0.8 0.73 0.8241 0.8897 0.8753 0.8991 0.7991 0.8206 0.7952 0.7336 0.85 0.89 0.83 0.86 0.8 rs12692566 COSM5021331 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.063 B . . . 1.000 0.194 P -1.605 0.004 N 3.2 0.073 T 1.95 0.004 N 0.077 0.126 -0.999 0.302 T 0.000 0.000 T . . . 1.926 0.292 15.75 0.396 0.027 0.133 0.176 N c -0.885 -0.595 0.003 0.101 0.732 0.924 0 4.5 0.542 0.517 0.224 0.124 0.212 0.998 0.411 0.997 0.653 3.407 0.069 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.8257 0.8866 0.8795 0.8312 0.8980 0.7926 0.8214 0.8273 0.7304 0.8369 0.8884 0.8640 0.8510 0.8869 0.7955 0.8121 0.7953 hom 1150.35 37 2 160676427 . C A 1150.35 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.84;MQ0=0;QD=31.09;VQSLOD=8.1516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:93.29:1183,93,0 2 160710922 160710922 T C exonic LY75;LY75-CD302 synonymous SNV LY75-CD302:NM_001198759:exon18:c.A2544G:p.A848A,LY75-CD302:NM_001198760:exon18:c.A2544G:p.A848A,LY75:NM_002349:exon18:c.A2544G:p.A848A 0.52 0.74 0.44 0.46 0.57 0.3 0.5289 0.7209 0.4029 0.4316 0.6653 0.5687 0.5519 0.3300 0.62 0.71 0.56 0.53 0.61 rs2729705 COSM4001262 1(bone);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5248 0.7269 0.4145 0.4058 0.4368 0.6591 0.5774 0.5182 0.3351 0.6128 0.7181 0.4117 0.4040 0.4385 0.6552 0.5799 0.5530 hom 2861.42 103 2 160710922 . T C 2861.42 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;QD=27.78;VQSLOD=7.7743;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:2894,217,0 2 160808075 160808075 C T exonic PLA2R1 nonsynonymous SNV PLA2R1:NM_001007267:exon24:c.G3316A:p.G1106S,PLA2R1:NM_001195641:exon24:c.G3316A:p.G1106S,PLA2R1:NM_007366:exon24:c.G3316A:p.G1106S 0.25 0.04 0.28 0.29 0.52 0.19 0.3970 0.0961 0.2885 0.2707 0.6216 0.5017 0.4194 0.2096 0.36 0.11 0.49 0.24 0.53 rs3828323 COSM4998263 1(bone);2(pancreas) . . . . . . . . . . . 0.814 0.036 T 0.0 0.026 B 0.0 0.040 B 0.151 0.030 N 1 0.090 P -0.46 0.027 N 3.39 0.062 T 0.74 0.022 N 0.049 0.041 -0.935 0.433 T 0.000 0.000 T . . . -0.949 0.034 0.020 0.336 0.020 0.024 0.067 N c -1.707 -1.667 0.007 0.114 0.707 0.730 0 -3.0 0.051 -0.474 0.066 -1.839 0.006 0.000 0.063 0.000 0.016 4.591 0.116 . ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000226266.2|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood 0.3990 0.0918 0.3015 0.3012 0.2695 0.6156 0.5080 0.4142 0.2088 0.3893 0.1042 0.2828 0.2980 0.2618 0.6072 0.5197 0.4878 hom 2619.29 84 2 160808075 . C T 2619.29 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=31.18;VQSLOD=9.1858;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2652,208,0 2 160879259 160879259 C T exonic PLA2R1 nonsynonymous SNV PLA2R1:NM_001007267:exon7:c.G1211A:p.R404H,PLA2R1:NM_001195641:exon7:c.G1211A:p.R404H,PLA2R1:NM_007366:exon7:c.G1211A:p.R404H 0.037 0.003 0.03 0.018 0.085 0.059 0.0674 0.0121 0.0234 0.0228 0.1308 0.0843 0.0760 0.0622 0.057 0.013 0.08 0.022 0.057 rs33985939 . . . . . . . . . . . . . 0.301 0.144 T 0.0 0.026 B 0.001 0.040 B 0.650 0.105 N 1.000 0.201 N 0.38 0.122 N 2.22 0.182 T -0.19 0.100 N 0.022 0.013 -0.973 0.365 T 0.001 0.003 T . . . 0.999 0.190 10.66 0.267 0.013 0.058 0.116 N c -1.360 -1.308 0.002 0.089 0.707 0.730 0 -3.66 0.042 0.061 0.141 -0.258 0.088 0.711 0.285 0.934 0.407 7.212 0.250 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000054219.9|ENSG00000054219.9|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2|ENSG00000226266.2 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Testis|Thyroid|Whole_Blood 0.0672 0.0123 0.0265 0.0440 0.0211 0.1301 0.0849 0.0679 0.0626 0.0686 0.0153 0.0227 0.0364 0.0278 0.1269 0.0917 0.0978 het 1568.09 131 2 160879259 . C T 1568.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.658;DP=131;Dels=0.00;FS=2.285;HRun=0;HaplotypeScore=4.7431;MQ=59.82;MQ0=0;MQRankSum=-1.145;QD=11.97;ReadPosRankSum=0.382;VQSLOD=4.6648;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,59:131:99:1598,0,1819 2 160885418 160885418 G C exonic PLA2R1 nonsynonymous SNV PLA2R1:NM_001007267:exon5:c.C898G:p.H300D,PLA2R1:NM_001195641:exon5:c.C898G:p.H300D,PLA2R1:NM_007366:exon5:c.C898G:p.H300D 0.25 0.037 0.27 0.35 0.47 0.2 0.3852 0.0931 0.2938 0.3123 0.5091 0.4797 0.4013 0.2387 0.36 0.1 0.49 0.2 0.39 rs35771982 COSM3757707 1(large_intestine) . . . . . . . . . . . 0.634 0.060 T 0.0 0.026 B 0.0 0.013 B 0.583 0.111 N 1 0.090 P -1.01 0.011 N 2.46 0.149 T 0.23 0.046 N 0.03 0.011 -0.932 0.439 T 0.000 0.000 T . . . -1.182 0.026 0.007 0.514 0.045 0.017 0.053 N c -1.565 -1.501 0.784 0.239 0.554 0.246 0 -0.954 0.098 -0.177 0.097 -0.390 0.064 0.000 0.063 0.214 0.220 5.478 0.159 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000115221.6|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000226266.2|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3878 0.0911 0.3009 0.2784 0.3126 0.5081 0.4922 0.3905 0.2419 0.3677 0.1022 0.2895 0.2384 0.2958 0.5026 0.5007 0.4434 hom 2443.74 82 2 160885418 . G C 2443.74 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=29.80;VQSLOD=8.5123;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2477,190,0 2 160885442 160885442 T C exonic PLA2R1 nonsynonymous SNV PLA2R1:NM_001007267:exon5:c.A874G:p.M292V,PLA2R1:NM_001195641:exon5:c.A874G:p.M292V,PLA2R1:NM_007366:exon5:c.A874G:p.M292V 0.26 0.055 0.27 0.35 0.47 0.2 0.3886 0.1152 0.2983 0.3119 0.5088 0.4814 0.4091 0.2396 0.36 0.12 0.49 0.23 0.35 rs3749117 COSM3757708 1(large_intestine) . . . . . . . . . . . 0.091 0.361 T 0.001 0.090 B 0.005 0.145 B 0.587 0.111 N 0.995 0.233 P 1.575 0.398 L 2.44 0.152 T 0.79 0.021 N 0.086 0.092 -0.936 0.432 T 0.000 0.000 T . . . 0.467 0.139 7.175 0.896 0.184 0.871 0.463 D c -0.297 -0.174 0.998 0.365 0.554 0.246 0 4.64 0.572 3.207 0.506 0.964 0.580 1.000 0.715 0.587 0.286 12.167 0.533 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000115221.6|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000054219.9|ENSG00000153246.7|ENSG00000054219.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Whole_Blood 0.3904 0.1125 0.3044 0.2832 0.3122 0.5076 0.4933 0.3961 0.2422 0.3752 0.1257 0.2936 0.2450 0.2960 0.5029 0.5018 0.4458 hom 2306.87 75 2 160885442 . T C 2306.87 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.0323;MQ=59.38;MQ0=0;QD=30.76;VQSLOD=8.8039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2340,178,0 2 160901517 160901517 A G exonic PLA2R1 synonymous SNV PLA2R1:NM_001007267:exon2:c.T261C:p.S87S,PLA2R1:NM_001195641:exon2:c.T261C:p.S87S,PLA2R1:NM_007366:exon2:c.T261C:p.S87S 0.46 0.13 0.66 0.6 0.63 0.43 0.5737 0.2040 0.7173 0.5788 0.6376 0.6305 0.5850 0.4477 0.49 0.22 0.63 0.38 0.59 rs4665143 COSM5428077 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5863 0.1989 0.7125 0.4960 0.5779 0.6388 0.6385 0.5857 0.4480 0.5149 0.2058 0.6766 0.55 0.5801 0.6282 0.6467 0.5871 hom 1758.19 65 2 160901517 . A G 1758.19 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.05;VQSLOD=13.5039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1791,144,0 2 161029218 161029218 G A exonic ITGB6 synonymous SNV ITGB6:NM_001282354:exon4:c.C498T:p.D166D,ITGB6:NM_001282388:exon5:c.C657T:p.D219D,ITGB6:NM_001282390:exon5:c.C369T:p.D123D,ITGB6:NM_000888:exon6:c.C783T:p.D261D,ITGB6:NM_001282355:exon6:c.C783T:p.D261D,ITGB6:NM_001282389:exon6:c.C564T:p.D188D,ITGB6:NM_001282353:exon7:c.C783T:p.D261D 0.23 0.033 0.26 0.33 0.42 0.16 0.3358 0.0870 0.2698 0.2991 0.4755 0.4091 0.3590 0.2046 0.3 0.094 0.41 0.2 0.32 rs2305818 COSM3757710 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3385 0.0827 0.2750 0.1920 0.3040 0.4728 0.4203 0.3361 0.2089 0.3258 0.0915 0.2590 0.1755 0.2990 0.4733 0.4327 0.4018 hom 6843.28 233 2 161029218 . G A 6843.28 Mask AC=2;AF=1.00;AN=2;DP=233;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.9597;MQ=58.47;MQ0=0;QD=29.37;VQSLOD=5.5003;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,233:233:99:6842,560,0 2 161174693 161174693 C T exonic RBMS1 synonymous SNV RBMS1:NM_002897:exon3:c.G297A:p.T99T,RBMS1:NM_016836:exon3:c.G297A:p.T99T 0.26 0.12 0.21 0.53 0.3 0.17 0.2824 0.1472 0.2531 0.5574 0.3719 0.2971 0.2723 0.1515 0.24 0.15 0.29 0.25 0.19 rs1430 COSM5021334;COSM1400395 1(bone);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2661 0.1310 0.2194 0.1534 0.5180 0.3709 0.2884 0.2462 0.1372 0.2794 0.1512 0.2405 0.1610 0.5631 0.3605 0.3094 0.3249 hom 998.11 36 2 161174693 . C T 998.11 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=27.73;VQSLOD=7.8347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:78.24:1031,78,0 2 162929979 162929979 A G exonic DPP4 synonymous SNV DPP4:NM_001935:exon2:c.T24C:p.L8L 0.21 0.21 0.17 0.047 0.35 0.28 0.2801 0.2381 0.1797 0.0360 0.2352 0.3317 0.2698 0.3150 0.31 0.24 0.35 0.21 0.34 rs17574 COSM3757711 1(breast);1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2749 0.2368 0.1781 0.3132 0.0361 0.2355 0.3393 0.2878 0.3136 0.2694 0.2371 0.2017 0.2867 0.0432 0.2460 0.3220 0.2633 het 1253.12 119 2 162929979 . A G 1253.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.610;DP=119;Dels=0.00;FS=6.019;HRun=1;HaplotypeScore=5.3103;MQ=58.78;MQ0=0;MQRankSum=-0.169;QD=10.53;ReadPosRankSum=0.180;VQSLOD=4.5179;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,48:119:99:1283,0,1640 2 163124051 163124051 C T exonic IFIH1 nonsynonymous SNV IFIH1:NM_022168:exon15:c.G2836A:p.A946T 0.36 0.13 0.39 0.19 0.61 0.56 0.5047 0.1758 0.4224 0.1737 0.5747 0.5986 0.5286 0.5344 0.46 0.19 0.6 0.34 0.67 rs1990760 COSM4984995 15(soft_tissue) Benign not_specified RCV000245445.1 MedGen CN169374 Type 1 diabetes 1.18 . 17554260 rs1990760 2E-11 0.513 0.074 T 0.105 0.244 B 0.027 0.198 B 0.030 0.253 N 0.208 0.344 P 1.555 0.395 L 0.95 0.433 T 0.19 0.050 N 0.084 0.078 -0.945 0.418 T 0.000 0.000 T . . . 1.521 0.245 13.42 0.755 0.107 0.636 0.319 D c -0.426 -0.317 0.911 0.263 0.707 0.730 0 3.87 0.437 0.750 0.258 0.031 0.150 0.914 0.315 0.859 0.359 7.731 0.278 C-terminal domain of RIG-I . . 0.5041 0.1739 0.4230 0.4546 0.1753 0.5714 0.6067 0.5239 0.5320 0.4589 0.1789 0.4569 0.4834 0.1845 0.5668 0.6187 0.5663 het 1349.20 119 2 163124051 . C T 1349.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.205;DP=119;Dels=0.00;FS=5.638;HRun=3;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;MQRankSum=-0.217;QD=11.34;ReadPosRankSum=0.495;VQSLOD=5.7842;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,53:119:99:1379,0,1641 2 163128824 163128824 T C exonic IFIH1 nonsynonymous SNV IFIH1:NM_022168:exon13:c.A2528G:p.H843R 0.59 0.58 0.77 0.31 0.75 0.6 0.6762 0.6228 0.8287 0.3116 0.6433 0.7291 0.6435 0.5951 0.69 0.62 0.73 0.63 0.83 rs3747517 COSM4418116 1(haematopoietic_and_lymphoid_tissue);1(skin);1(prostate);1(large_intestine) Benign not_specified RCV000253451.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.220 P -2.52 0.001 N 3.83 0.037 T 4.18 0.000 N 0.124 0.140 -0.966 0.380 T 0.000 0.000 T . . . 1.137 0.204 11.42 0.550 0.051 0.321 0.243 N c -0.830 -0.435 1.000 0.404 0.707 0.730 0 5.76 0.907 4.750 0.616 0.069 0.176 1.000 0.715 0.997 0.653 15.098 0.718 Helicase\x2c C-terminal|P-loop containing nucleoside triphosphate hydrolase . . 0.6786 0.6221 0.8193 0.6851 0.3095 0.6423 0.7315 0.6957 0.5899 0.6650 0.6201 0.7792 0.6887 0.3135 0.6418 0.7261 0.6833 het 564.70 45 2 163128824 . T C 564.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DP=45;Dels=0.00;FS=4.491;HRun=0;HaplotypeScore=2.9632;MQ=59.49;MQ0=0;MQRankSum=0.762;QD=12.55;ReadPosRankSum=0.034;VQSLOD=6.0012;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:595,0,667 2 165381542 165381542 C A exonic GRB14 nonsynonymous SNV GRB14:NM_001303422:exon4:c.G389T:p.G130V,GRB14:NM_004490:exon5:c.G650T:p.G217V 0.0066 0.0015 0.0072 . 0.022 0.0041 0.0158 0.0029 0.0132 0.0001 0.0077 0.0225 0.0189 0.0096 0.016 0.0034 0.023 . 0.016 rs34570870 . . . . . . . . . . . . . 0.01 0.564 D 0.138 0.330 B 0.045 0.380 B 0.000 0.843 D 1 0.810 D 2.22 0.631 M 1.87 0.320 T -4.57 0.787 D 0.327 0.420 -1.052 0.138 T 0.062 0.259 T . . . 5.133 0.692 25.4 0.993 0.590 0.975 0.748 D c 0.342 0.476 1.000 0.500 0.706 0.609 0 6.01 0.974 3.162 0.502 0.935 0.490 1.000 0.715 1.000 0.888 16.938 0.860 . . . 0.0150 0.0034 0.0110 0.0183 6.146e-05 0.0080 0.0224 0.0192 0.0096 0.0138 0.0047 0.0096 0.0166 0 0.0049 0.0231 0.0112 het 142.05 25 2 165381542 . C A 142.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.508;DP=25;Dels=0.00;FS=2.044;HRun=1;HaplotypeScore=2.7245;MQ=58.49;MQ0=0;MQRankSum=0.318;QD=5.68;ReadPosRankSum=-1.524;VQSLOD=3.9903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,7:25:99:172,0,454 2 165476253 165476253 A T exonic GRB14 nonsynonymous SNV GRB14:NM_004490:exon2:c.T268A:p.F90I 0.44 0.18 0.74 0.36 0.68 0.43 0.6060 0.2506 0.8148 0.3481 0.7815 0.6716 0.6167 0.4824 0.52 0.27 0.66 0.47 0.66 rs61748245 COSM3757716 1(large_intestine) . . . . . . . . . . . 0.467 0.085 T 0.022 0.174 B 0.027 0.198 B 0.002 0.368 N 0.997 0.229 P 1.61 0.413 L 2.02 0.414 T -0.29 0.131 N 0.157 0.240 -0.985 0.339 T 0.000 0.000 T . . . 2.550 0.368 19.79 0.958 0.273 0.732 0.355 D c -0.329 -0.141 1.000 0.437 0.615 0.372 0 4.3 0.504 1.781 0.380 0.237 0.263 0.983 0.354 0.999 0.750 8.941 0.347 . . . 0.6182 0.2410 0.8017 0.5929 0.3440 0.7768 0.6661 0.6338 0.4768 0.5551 0.2477 0.7602 0.5795 0.3418 0.7876 0.6820 0.6939 hom 4251.70 149 2 165476253 . A T 4251.70 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9867;MQ=59.24;MQ0=0;QD=28.53;VQSLOD=8.1637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:149:99:4251,319,0 2 165551404 165551404 G A exonic COBLL1 nonsynonymous SNV COBLL1:NM_001278461:exon11:c.C2498T:p.T833I,COBLL1:NM_001278460:exon12:c.C2636T:p.T879I,COBLL1:NM_014900:exon12:c.C2612T:p.T871I,COBLL1:NM_001278458:exon15:c.C2813T:p.T938I 0.053 0.011 0.052 0.033 0.16 0.021 0.1077 0.0292 0.0441 0.0417 0.1985 0.1515 0.0936 0.0240 0.1 0.036 0.14 0.054 0.18 rs17244632 COSM4778232;COSM148972 1(stomach);2(prostate) . . . . . . . . . . . 0.014 0.531 D 0.893 0.503 P 0.383 0.454 B 0.362 0.137 N 1 0.090 P 2.215 0.627 M . . . -2.55 0.551 D 0.037 0.034 -1.080 0.074 T 0.001 0.002 T . . . 3.136 0.437 22.6 0.993 0.585 0.037 0.089 N c -0.305 -0.437 0.999 0.394 0.563 0.310 0 0.63 0.168 1.656 0.367 1.048 0.713 0.011 0.184 0.677 0.304 1.724 0.027 . ENSG00000169507.5 Muscle_Skeletal 0.1046 0.0278 0.0451 0.0546 0.0416 0.1967 0.1508 0.1043 0.0250 0.1154 0.0286 0.0574 0.0397 0.0390 0.1905 0.1597 0.1436 het 900.42 81 2 165551404 . G A 900.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.532;DP=81;Dels=0.00;FS=0.947;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-0.289;QD=11.12;ReadPosRankSum=0.450;VQSLOD=6.0484;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:930,0,1311 2 165987772 165987772 T G exonic SCN3A synonymous SNV SCN3A:NM_001081676:exon16:c.A2400C:p.V800V,SCN3A:NM_001081677:exon16:c.A2400C:p.V800V,SCN3A:NM_006922:exon16:c.A2547C:p.V849V 0.18 0.023 0.18 0.27 0.2 0.29 0.2018 0.0558 0.1852 0.2693 0.1955 0.2039 0.1982 0.2641 0.16 0.065 0.21 0.076 0.2 rs62174900 COSM3757718;COSM3757719 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000153905.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2043 0.0513 0.1889 0.2534 0.2659 0.1920 0.2036 0.1976 0.2593 0.1647 0.0551 0.1882 0.2550 0.2627 0.1949 0.2062 0.1944 het 1884.88 158 2 165987772 . T G 1884.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.707;DP=158;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3639;MQ=58.77;MQ0=0;MQRankSum=0.090;QD=11.93;ReadPosRankSum=0.420;VQSLOD=6.1786;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,76:158:99:1915,0,1898 2 165996107 165996107 T A exonic SCN3A synonymous SNV SCN3A:NM_001081676:exon14:c.A1884T:p.T628T,SCN3A:NM_001081677:exon14:c.A1884T:p.T628T,SCN3A:NM_006922:exon14:c.A2031T:p.T677T 0.63 0.73 0.58 0.82 0.42 0.58 0.5068 0.6684 0.6324 0.7955 0.4156 0.4165 0.4890 0.5687 0.5 0.66 0.42 0.65 0.46 rs1946892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5094 0.6656 0.6256 0.4949 0.8021 0.4078 0.4136 0.4847 0.5703 0.5072 0.6567 0.6065 0.5066 0.8238 0.4173 0.4055 0.4510 het 1237.60 87 2 165996107 . T A 1237.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.020;DP=87;Dels=0.00;FS=9.297;HRun=0;HaplotypeScore=2.9967;MQ=58.55;MQ0=0;MQRankSum=-1.608;QD=14.23;ReadPosRankSum=1.280;VQSLOD=3.4159;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,46:87:99:1268,0,1113 2 166003479 166003479 G A exonic SCN3A synonymous SNV SCN3A:NM_001081676:exon12:c.C1441T:p.L481L,SCN3A:NM_001081677:exon12:c.C1441T:p.L481L,SCN3A:NM_006922:exon12:c.C1441T:p.L481L 0.26 0.27 0.2 0.31 0.2 0.29 0.2215 0.2382 0.1958 0.3156 0.1932 0.2030 0.2104 0.2662 0.23 0.25 0.21 0.22 0.21 rs16850131 COSM3757721;COSM3757720 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000081470.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2225 0.2359 0.2045 0.2438 0.3162 0.1906 0.2048 0.2132 0.2648 0.2155 0.2283 0.2148 0.2583 0.2945 0.1929 0.2047 0.2043 het 1130.89 77 2 166003479 . G A 1130.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.385;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9810;MQ=55.72;MQ0=0;MQRankSum=2.077;QD=14.69;ReadPosRankSum=0.621;VQSLOD=2.5203;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,43:77:99:1161,0,966 2 166535883 166535883 G C exonic CSRNP3 nonsynonymous SNV CSRNP3:NM_024969:exon5:c.G1378C:p.V460L,CSRNP3:NM_001172173:exon7:c.G1378C:p.V460L 0.037 0.079 0.043 . 0.04 0.013 0.0288 0.0696 0.0226 0 0.0301 0.0308 0.0363 0.0138 0.042 0.064 0.031 0.011 0.016 rs61738743 . . . . . . . . . . . . . 0.189 0.241 T 0.022 0.174 B 0.015 0.162 B 0.033 0.250 N 0.064 0.371 P 0.695 0.181 N 0.77 0.496 T -0.25 0.110 N 0.136 0.365 -1.070 0.093 T 0.003 0.010 T . . . 1.030 0.193 10.83 0.992 0.534 0.969 0.715 D c -0.174 0.012 0.809 0.243 0.581 0.326 0 4.09 0.469 4.449 0.595 0.953 0.551 1.000 0.715 0.893 0.376 12.128 0.530 . . . 0.0279 0.0706 0.0231 0.0239 5.815e-05 0.0292 0.0313 0.0351 0.0142 0.0357 0.0655 0.0382 0.0331 0 0.0304 0.0243 0.0224 het 1170.08 80 2 166535883 . G C 1170.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=80;Dels=0.00;FS=2.087;HRun=0;HaplotypeScore=0.6651;MQ=59.30;MQ0=0;MQRankSum=-1.132;QD=14.63;ReadPosRankSum=0.699;VQSLOD=5.4852;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,42:80:99:1200,0,1131 2 166535918 166535918 C T exonic CSRNP3 synonymous SNV CSRNP3:NM_024969:exon5:c.C1413T:p.T471T,CSRNP3:NM_001172173:exon7:c.C1413T:p.T471T 0.37 0.34 0.31 0.37 0.5 0.31 0.4297 0.3644 0.2579 0.3712 0.5348 0.4925 0.4369 0.3252 0.45 0.37 0.49 0.32 0.34 rs777346 COSM3757722 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4257 0.3614 0.2783 0.4285 0.3721 0.5292 0.4927 0.4240 0.3306 0.4576 0.3756 0.3012 0.4667 0.3918 0.5175 0.5051 0.4805 het 783.46 63 2 166535918 . C T 783.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.631;DP=63;Dels=0.00;FS=3.469;HRun=0;HaplotypeScore=1.7234;MQ=58.29;MQ0=0;MQRankSum=0.256;QD=12.44;ReadPosRankSum=0.145;VQSLOD=5.7220;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,28:63:99:813,0,980 2 166770120 166770120 A G exonic TTC21B synonymous SNV TTC21B:NM_024753:exon16:c.T2175C:p.F725F 0.28 0.26 0.23 0.2 0.36 0.33 0.3302 0.2733 0.2001 0.1986 0.3277 0.3781 0.3230 0.3336 0.35 0.27 0.39 0.22 0.3 rs10176588 COSM4001280 2(haematopoietic_and_lymphoid_tissue) other|Benign|Benign not_specified|Joubert_syndrome|Jeune_thoracic_dystrophy RCV000118724.6|RCV000342863.1|RCV000378916.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004|C0265275:75049004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3250 0.2664 0.2104 0.4060 0.1973 0.3263 0.3772 0.3344 0.3336 0.3312 0.2715 0.2554 0.3808 0.1947 0.3364 0.3827 0.3316 het 1000.81 85 2 166770120 . A G 1000.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.517;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=58.45;MQ0=0;MQRankSum=1.029;QD=11.77;ReadPosRankSum=1.718;VQSLOD=6.0828;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,43:85:99:1031,0,939 2 166773971 166773971 G A exonic TTC21B synonymous SNV TTC21B:NM_024753:exon14:c.C1695T:p.Y565Y 0.29 0.31 0.23 0.2 0.37 0.33 0.3331 0.3124 0.2009 0.1982 0.3277 0.3774 0.3223 0.3331 0.36 0.31 0.39 0.22 0.27 rs6750044 COSM4001281 1(haematopoietic_and_lymphoid_tissue) other|Benign|Benign not_specified|Jeune_thoracic_dystrophy|Joubert_syndrome RCV000118722.6|RCV000260738.1|RCV000301142.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0265275:75049004|C0431399:ORPHA475:253175003:716997004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3279 0.3071 0.2124 0.4066 0.1971 0.3262 0.3772 0.3358 0.3335 0.3435 0.3140 0.2584 0.3833 0.1947 0.3361 0.3830 0.3333 het 954.13 87 2 166773971 . G A 954.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.307;DP=87;Dels=0.00;FS=11.547;HRun=0;HaplotypeScore=4.9578;MQ=58.43;MQ0=0;MQRankSum=-0.816;QD=10.97;ReadPosRankSum=-0.540;VQSLOD=3.6627;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,42:87:99:984,0,1239 2 166788336 166788336 T C exonic TTC21B nonsynonymous SNV TTC21B:NM_024753:exon8:c.A826G:p.T276A 0.95 0.81 0.98 1. 1. 1. 0.9853 0.8387 0.9928 1 1 0.9997 0.9945 0.9999 0.95 0.84 1. 0.95 1. rs7592429 . . other|Benign|Benign not_specified|Jeune_thoracic_dystrophy|Joubert_syndrome RCV000118732.6|RCV000306035.1|RCV000407620.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0265275:75049004|C0431399:ORPHA475:253175003:716997004 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.420 N 1.000 0.182 P -2.405 0.001 N 0.79 0.491 T 2.34 0.003 N 0.019 0.004 -0.941 0.425 T 0.000 0.000 T . . . -0.325 0.067 0.582 0.731 0.099 0.026 0.070 N c -1.046 -0.790 0.089 0.161 0.707 0.730 0 2.14 0.264 1.742 0.376 0.016 0.142 0.927 0.319 0.941 0.415 11.458 0.493 Tetratricopeptide-like helical domain . . 0.9886 0.8392 0.9928 0.9999 1 1 0.9995 0.9918 0.9998 0.9541 0.8395 0.9916 1 1 1 0.9995 0.9929 hom 1526.25 54 2 166788336 . T C 1526.25 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=28.26;VQSLOD=8.6464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1559,114,0 2 166797646 166797646 C T exonic TTC21B nonsynonymous SNV TTC21B:NM_024753:exon6:c.G601A:p.V201M 0.67 0.55 0.75 0.8 0.63 0.67 0.6568 0.5733 0.7953 0.8029 0.6726 0.6227 0.6751 0.6666 0.6 0.59 0.61 0.73 0.69 rs1432273 . . other|Benign|Benign not_specified|Jeune_thoracic_dystrophy|Joubert_syndrome RCV000118729.6|RCV000332739.1|RCV000373358.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0265275:75049004|C0431399:ORPHA475:253175003:716997004 . . . . . . 0.004 0.654 D 0.992 0.629 D 0.942 0.671 D 0.001 0.405 N 0.105 0.360 P 2.81 0.821 M 0.73 0.507 T -2.08 0.475 N 0.123 0.138 -0.975 0.361 T 0.000 0.000 T . . . 5.437 0.737 26.1 0.999 0.943 0.269 0.229 N c 0.064 -0.045 0.096 0.162 0.707 0.730 0 2.52 0.294 0.742 0.257 0.046 0.159 0.132 0.232 0.690 0.307 3.784 0.082 Tetratricopeptide-like helical domain ENSG00000115339.9 Adipose_Subcutaneous 0.6638 0.5743 0.7831 0.5935 0.8035 0.6738 0.6225 0.6589 0.6661 0.6243 0.5727 0.7356 0.6192 0.8066 0.6639 0.6169 0.6602 het 754.32 77 2 166797646 . C T 754.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.558;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7329;MQ=59.40;MQ0=0;MQRankSum=0.167;QD=9.80;ReadPosRankSum=-0.705;VQSLOD=6.4759;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,32:77:99:784,0,1191 2 166892788 166892788 C T exonic SCN1A nonsynonymous SNV SCN1A:NM_001165963:exon16:c.G3199A:p.A1067T,SCN1A:NM_001165964:exon16:c.G3115A:p.A1039T,SCN1A:NM_006920:exon16:c.G3166A:p.A1056T,SCN1A:NM_001202435:exon18:c.G3199A:p.A1067T 0.79 0.85 0.76 0.89 0.69 0.73 0.7252 0.8247 0.8208 0.8979 0.7492 0.6787 0.6707 0.6864 0.72 0.82 0.68 0.72 0.57 rs2298771 COSM3757725;COSM3757723;COSM3757724 1(large_intestine) Benign|other|Benign|Benign Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Familial_hemiplegic_migraine|Seizure_Disorders RCV000030432.1|RCV000079572.10|RCV000338109.1|RCV000401331.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen C3502809|CN169374|C0338484:ORPHA569:95656000|C0014544 . . . . . . 0.644 0.056 T 0.0 0.026 B 0.001 0.040 B 0.797 0.093 N 1 0.090 P -0.49 0.026 N -3.9 0.960 D -0.07 0.080 N 0.095 0.095 -0.930 0.441 T 0.000 0.000 T . . . 1.257 0.216 12.04 0.796 0.124 0.005 0.025 N c -1.318 -1.219 0.000 0.041 0.487 0.133 0 -2.85 0.054 -0.310 0.081 -0.207 0.101 0.000 0.063 0.996 0.625 16.312 0.826 Sodium ion transport-associated ENSG00000144285.11|ENSG00000236107.3 Testis|Testis 0.7249 0.8291 0.8086 0.5979 0.8970 0.7447 0.6781 0.6868 0.6871 0.7482 0.8279 0.7709 0.5894 0.8968 0.7570 0.6860 0.7418 het 938.59 83 2 166892788 . C T 938.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.721;DP=83;Dels=0.00;FS=0.886;HRun=1;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-1.148;QD=11.31;ReadPosRankSum=-0.779;VQSLOD=5.7526;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,35:83:99:969,0,1315 2 166897864 166897864 A G exonic SCN1A synonymous SNV SCN1A:NM_001165963:exon13:c.T2292C:p.V764V,SCN1A:NM_001165964:exon13:c.T2208C:p.V736V,SCN1A:NM_006920:exon13:c.T2259C:p.V753V,SCN1A:NM_001202435:exon15:c.T2292C:p.V764V 0.79 0.85 0.76 0.89 0.69 0.73 0.7260 0.8257 0.8211 0.8985 0.7502 0.6797 0.6740 0.6863 0.72 0.82 0.68 0.72 0.61 rs6432860 COSM3757728;COSM3757726;COSM3757727 1(large_intestine) Benign|other|Benign|Benign\x2cBenign Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Seizure_Disorders|Familial_hemiplegic_migraine\x2cnot_specified RCV000030431.1|RCV000079565.9|RCV000275349.1|RCV000332804.1\x2cRCV000127878.2 MedGen|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT\x2cMedGen C3502809|CN169374|C0014544|C0338484:ORPHA569:95656000\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7252 0.8298 0.8089 0.5980 0.8972 0.7450 0.6788 0.6876 0.6870 0.7483 0.8286 0.7734 0.5894 0.8983 0.7566 0.6855 0.7428 het 1699.49 132 2 166897864 . A G 1699.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.665;DP=132;Dels=0.00;FS=0.651;HRun=0;HaplotypeScore=1.8305;MQ=59.48;MQ0=0;MQRankSum=1.340;QD=12.87;ReadPosRankSum=0.271;VQSLOD=6.6635;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,66:132:99:1729,0,1720 2 166903445 166903445 T C exonic SCN1A synonymous SNV SCN1A:NM_001165963:exon9:c.A1212G:p.V404V,SCN1A:NM_001165964:exon9:c.A1212G:p.V404V,SCN1A:NM_006920:exon9:c.A1212G:p.V404V,SCN1A:NM_001202435:exon11:c.A1212G:p.V404V 0.71 0.56 0.74 0.89 0.69 0.73 0.7034 0.5748 0.8100 0.8987 0.75 0.6798 0.6685 0.6860 0.64 0.57 0.68 0.6 0.63 rs7580482 COSM3757729;COSM3757731;COSM3757730 1(large_intestine) Benign|other|Benign|Benign Severe_myoclonic_epilepsy_in_infancy|not_specified|Familial_hemiplegic_migraine|Seizure_Disorders RCV000030430.1|RCV000079554.9|RCV000290590.1|RCV000384881.1 MedGen:OMIM:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen C0751122:607208:230437002|CN169374|C0338484:ORPHA569:95656000|C0014544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7074 0.5711 0.7980 0.5982 0.8975 0.7450 0.6787 0.6785 0.6867 0.6768 0.5770 0.7632 0.5894 0.8965 0.7572 0.6856 0.7342 het 1429.62 104 2 166903445 . T C 1429.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.613;DP=104;Dels=0.00;FS=0.769;HRun=0;HaplotypeScore=1.9937;MQ=58.42;MQ0=0;MQRankSum=0.429;QD=13.75;ReadPosRankSum=0.325;VQSLOD=5.3448;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,53:104:99:1460,0,1237 2 167144974 167144974 A T exonic SCN9A synonymous SNV SCN9A:NM_002977:exon10:c.T1287A:p.R429R 0.55 0.8 0.54 0.38 0.49 0.43 0.4944 0.7591 0.5498 0.3871 0.4873 0.4744 0.4866 0.4388 0.56 0.75 0.48 0.61 . rs6747673 COSM4001293;COSM4001294 1(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Congenital_Indifference_to_Pain|Paroxysmal_extreme_pain_disorder|Inherited_Erythromelalgia|Severe_myoclonic_epilepsy_in_infancy|Small_fiber_neuropathy|Generalized_epilepsy_with_febrile_seizures_plus|Familial_Febrile_Seizures RCV000118293.4|RCV000267710.1|RCV000282544.1|RCV000292831.1|RCV000317687.1|RCV000318943.1|RCV000372285.1|RCV000387463.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:SNOMED_CT|MedGen|MedGen|MedGen CN169374|C0002768|C1833661:167400:ORPHA46348|CN239438|C0751122:607208:230437002|C3276709|C3502809|CN239386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4932 0.7609 0.5407 0.5044 0.3807 0.4877 0.4752 0.4807 0.4392 0.5660 0.7578 0.5204 0.5 0.3697 0.4946 0.4993 0.5174 het 1404.27 130 2 167144974 . A T 1404.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DP=130;Dels=0.00;FS=6.917;HRun=0;HaplotypeScore=5.2685;MQ=58.45;MQ0=0;MQRankSum=1.332;QD=10.80;ReadPosRankSum=0.218;VQSLOD=4.6861;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,58:130:99:1434,0,1626 2 167144995 167144995 T C exonic SCN9A synonymous SNV SCN9A:NM_002977:exon10:c.A1266G:p.E422E 0.35 0.36 0.32 0.31 0.4 0.37 0.3730 0.3789 0.2689 0.3228 0.4203 0.3958 0.3922 0.3568 0.39 0.38 0.39 0.39 . rs13402180 COSM3757733;COSM3757732 1(large_intestine) other|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Generalized_epilepsy_with_febrile_seizures_plus|Familial_Febrile_Seizures|Congenital_Indifference_to_Pain|Paroxysmal_extreme_pain_disorder|Small_fiber_neuropathy|Severe_myoclonic_epilepsy_in_infancy|Inherited_Erythromelalgia RCV000118292.4|RCV000289711.1|RCV000309654.1|RCV000344725.1|RCV000352364.1|RCV000359549.1|RCV000397247.1|RCV000399562.1 MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C3502809|CN239386|C0002768|C1833661:167400:ORPHA46348|C3276709|C0751122:607208:230437002|CN239438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3678 0.3790 0.2762 0.3568 0.3193 0.4168 0.3961 0.3604 0.3562 0.3997 0.3802 0.2812 0.3667 0.3113 0.4266 0.4211 0.4070 het 1618.86 149 2 167144995 . T C 1618.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.004;DP=149;Dels=0.00;FS=2.889;HRun=0;HaplotypeScore=2.6537;MQ=58.36;MQ0=0;MQRankSum=1.042;QD=10.86;ReadPosRankSum=0.917;VQSLOD=5.7057;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,68:149:99:1649,0,1936 2 167145142 167145142 A G exonic SCN9A synonymous SNV SCN9A:NM_002977:exon10:c.T1119C:p.A373A 0.35 0.36 0.32 0.31 0.4 0.37 0.3740 0.3810 0.2698 0.3228 0.4200 0.3965 0.3937 0.3581 0.39 0.38 0.39 0.39 . rs13414203 . . other|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Paroxysmal_extreme_pain_disorder|Congenital_Indifference_to_Pain|Generalized_epilepsy_with_febrile_seizures_plus|Small_fiber_neuropathy|Inherited_Erythromelalgia|Severe_myoclonic_epilepsy_in_infancy|Familial_Febrile_Seizures RCV000118290.4|RCV000271006.1|RCV000286417.1|RCV000321452.1|RCV000341529.1|RCV000372805.1|RCV000376267.1|RCV000384212.1 MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C1833661:167400:ORPHA46348|C0002768|C3502809|C3276709|CN239438|C0751122:607208:230437002|CN239386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3672 0.3777 0.2749 0.3558 0.3167 0.4166 0.3956 0.3615 0.3542 0.3995 0.3796 0.2799 0.3642 0.3131 0.4262 0.4212 0.4049 het 337.73 33 2 167145142 . A G 337.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.459;DP=33;Dels=0.00;FS=1.556;HRun=1;HaplotypeScore=0.5784;MQ=58.15;MQ0=0;MQRankSum=-0.306;QD=10.23;ReadPosRankSum=1.243;VQSLOD=4.8649;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,16:33:99:368,0,437 2 167168093 167168093 C T exonic SCN9A synonymous SNV SCN9A:NM_002977:exon2:c.G174A:p.Q58Q 0.57 0.76 0.46 0.41 0.61 0.54 0.5874 0.7515 0.4332 0.4391 0.5266 0.6253 0.5730 0.5472 0.68 0.76 0.64 0.56 . rs6432901 COSM5458078;COSM5458077 1(large_intestine) other|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Generalized_epilepsy_with_febrile_seizures_plus|Familial_Febrile_Seizures|Inherited_Erythromelalgia|Congenital_Indifference_to_Pain|Severe_myoclonic_epilepsy_in_infancy|Small_fiber_neuropathy|Paroxysmal_extreme_pain_disorder RCV000118295.3|RCV000265880.1|RCV000271887.1|RCV000310588.1|RCV000323339.1|RCV000358311.1|RCV000363455.1|RCV000380181.1 MedGen|MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet CN169374|C3502809|CN239386|CN239438|C0002768|C0751122:607208:230437002|C3276709|C1833661:167400:ORPHA46348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5761 0.7531 0.4548 0.5101 0.4340 0.5361 0.6334 0.5763 0.5425 0.6397 0.7519 0.5049 0.5340 0.4329 0.5450 0.6320 0.5804 het 1847.16 149 2 167168093 . C T 1847.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.418;DP=149;Dels=0.00;FS=1.370;HRun=1;HaplotypeScore=3.3544;MQ=59.69;MQ0=0;MQRankSum=-0.203;QD=12.40;ReadPosRankSum=-0.097;VQSLOD=6.3938;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,72:149:99:1877,0,2075 2 167334085 167334085 G T exonic SCN7A nonsynonymous SNV SCN7A:NM_002976:exon2:c.C122A:p.T41N 0.69 0.75 0.65 0.66 0.66 0.68 0.7247 0.7672 0.7362 0.7236 0.7083 0.7166 0.7257 0.7278 0.7 0.75 0.68 0.63 . rs7565062 COSM4001301;COSM4001302 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.202 0.166 N 1 0.090 P -2.765 0.000 N -3.89 0.978 D 2.18 0.011 N 0.002 0.069 -0.946 0.416 T 0.000 0.000 T . . . -1.887 0.010 0.002 0.096 0.001 0.006 0.025 N c -1.634 -1.508 0.000 0.041 0.487 0.133 0 1.11 0.195 -0.187 0.096 -0.300 0.081 0.000 0.063 0.050 0.164 6.023 0.187 . ENSG00000169432.10 Whole_Blood 0.6838 0.7426 0.6756 0.6760 0.6798 0.6672 0.6769 0.6777 0.7068 0.6853 0.75 0.6727 0.6954 0.6675 0.6618 0.6567 0.6656 het 145.41 11 2 167334085 . G T 145.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DP=11;Dels=0.00;FS=6.990;HRun=2;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=0.382;QD=13.22;ReadPosRankSum=1.377;VQSLOD=4.9511;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,8:11:90.79:175,0,91 2 169721377 169721377 G A exonic NOSTRIN nonsynonymous SNV NOSTRIN:NM_001171632:exon15:c.G1334A:p.G445E,NOSTRIN:NM_052946:exon15:c.G1184A:p.G395E,NOSTRIN:NM_001039724:exon16:c.G1418A:p.G473E,NOSTRIN:NM_001171631:exon21:c.G1589A:p.G530E 0.91 0.96 0.81 0.94 0.83 0.94 0.8639 0.9508 0.8571 0.9076 0.8858 0.8262 0.8731 0.9376 0.87 0.95 0.83 0.91 0.84 rs479661 . . . . . . . . . . . . . 0.848 0.027 T 0.0 0.026 B 0.0 0.040 B 0.021 0.268 N 1.000 0.214 P 0.34 0.105 N 1.64 0.278 T 3.26 0.002 N 0.097 0.181 -0.965 0.382 T 0.000 0.000 T . . . 1.761 0.273 14.75 0.895 0.182 0.032 0.081 N c -0.628 -0.398 0.897 0.260 0.563 0.310 0 4.96 0.650 3.196 0.505 0.238 0.266 1.000 0.715 1.000 0.888 8.843 0.341 SH3 domain ENSG00000163072.10|ENSG00000152253.4|ENSG00000152253.4|ENSG00000163072.10|ENSG00000163072.10|ENSG00000152253.4|ENSG00000152253.4|ENSG00000152253.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pancreas|Thyroid 0.8620 0.9530 0.8490 0.8262 0.9085 0.8837 0.8253 0.8451 0.9365 0.8685 0.9503 0.8341 0.8146 0.9022 0.8813 0.8191 0.8398 hom 2572.64 81 2 169721377 . G A 2572.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.647;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6701;MQ=58.60;MQ0=0;MQRankSum=0.150;QD=31.76;ReadPosRankSum=-0.192;VQSLOD=8.2382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,80:81:99:2606,197,0 2 169764176 169764176 G C exonic G6PC2 nonsynonymous SNV G6PC2:NM_021176:exon5:c.G655C:p.V219L 0.46 0.31 0.56 0.43 0.44 0.65 0.4865 0.3188 0.6786 0.4302 0.5238 0.4536 0.4879 0.6047 0.41 0.32 0.46 0.41 0.45 rs492594 COSM148982 1(stomach);2(pancreas);5(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.120 0.190 N 1.000 0.588 P -0.575 0.023 N -0.83 0.742 T 0.77 0.020 N 0.036 0.040 -0.937 0.431 T 0.000 0.000 T . . . 0.020 0.095 2.779 0.579 0.057 0.488 0.281 N c -1.002 -0.748 1.000 0.480 0.447 0.083 0 3.06 0.342 2.171 0.418 -0.931 0.025 0.974 0.344 0.343 0.245 5.621 0.166 . ENSG00000152254.6 Skin_Sun_Exposed_Lower_leg 0.4987 0.3179 0.6591 0.5139 0.4287 0.5173 0.4516 0.4896 0.6067 0.4196 0.3115 0.6348 0.4536 0.4229 0.5063 0.4460 0.4661 het 2055.33 180 2 169764176 . G C 2055.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.095;DP=180;DS;Dels=0.00;FS=5.802;HRun=0;HaplotypeScore=1.9494;MQ=59.54;MQ0=0;MQRankSum=-0.041;QD=11.42;ReadPosRankSum=0.699;VQSLOD=5.3179;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:107,73:180:99:2085,0,3083 2 169789016 169789016 T C exonic ABCB11 synonymous SNV ABCB11:NM_003742:exon24:c.A3084G:p.A1028A 0.5 0.23 0.51 0.64 0.53 0.67 0.5557 0.2775 0.6246 0.6209 0.5634 0.5461 0.5891 0.6672 0.45 0.27 0.54 0.46 . rs497692 COSM148984 1(stomach) Benign|Benign not_specified|Familial_Intrahepatic_Cholestasis RCV000246223.3|RCV000324953.1 MedGen|MedGen CN169374|CN239338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5545 0.2646 0.6008 0.6217 0.6204 0.5535 0.5358 0.5492 0.6586 0.4676 0.2680 0.5859 0.6126 0.6359 0.5378 0.5353 0.5337 hom 1424.37 48 2 169789016 . T C 1424.37 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;QD=29.67;VQSLOD=8.4834;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1457,117,0 2 169830328 169830328 A G exonic ABCB11 nonsynonymous SNV ABCB11:NM_003742:exon13:c.T1331C:p.V444A 0.59 0.55 0.45 0.7 0.6 0.6 0.5794 0.5795 0.4204 0.7293 0.5097 0.5943 0.5590 0.5808 0.6 0.59 0.6 0.63 . rs2287622 COSM4415006;COSM4415005 1(haematopoietic_and_lymphoid_tissue);1(skin) Benign|Benign not_specified|Familial_Intrahepatic_Cholestasis RCV000174528.3|RCV000273829.1 MedGen|MedGen CN169374|CN239338 . . . . . . 0.25 0.171 T 0.001 0.067 B 0.003 0.080 B 0.061 0.222 N 0.076 0.368 P 0.145 0.088 N -3.2 0.932 D 0.01 0.069 N 0.08 0.072 -0.896 0.484 T 0.000 0.000 T . . . 1.830 0.281 15.16 0.968 0.307 0.945 0.613 D c -0.427 -0.186 1.000 0.441 0.487 0.133 0 4.62 0.568 2.387 0.438 1.199 0.960 0.971 0.341 0.998 0.697 11.852 0.515 ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.5686 0.5710 0.4226 0.5592 0.7273 0.5131 0.5982 0.5613 0.5750 0.5706 0.5576 0.4185 0.5497 0.7126 0.5115 0.5895 0.5204 het 1290.78 87 2 169830328 . A G 1290.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.761;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4726;MQ=57.60;MQ0=0;MQRankSum=0.157;QD=14.84;ReadPosRankSum=-0.098;VQSLOD=4.8399;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,46:87:99:1321,0,1027 2 169952233 169952233 T C exonic DHRS9 synonymous SNV DHRS9:NM_001142271:exon5:c.T916C:p.L306L,DHRS9:NM_001289763:exon5:c.T1096C:p.L366L,DHRS9:NM_001142270:exon6:c.T916C:p.L306L,DHRS9:NM_199204:exon6:c.T916C:p.L306L 0.27 0.42 0.25 0.32 0.18 0.14 0.2214 0.3795 0.2557 0.3182 0.1737 0.1964 0.2412 0.1668 0.26 0.37 0.2 0.26 0.2 rs1059261 COSM3757752;COSM3757751 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2193 0.3801 0.2424 0.2362 0.3197 0.1725 0.1953 0.2262 0.1724 0.2571 0.3844 0.2399 0.2649 0.3327 0.1826 0.1959 0.2184 het 1294.83 87 2 169952233 . T C 1294.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.511;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2886;MQ=59.57;MQ0=0;MQRankSum=-1.215;QD=14.88;ReadPosRankSum=0.210;VQSLOD=4.8280;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:37,50:87:99:1325,0,884 2 169997051 169997051 G A exonic LRP2 synonymous SNV LRP2:NM_004525:exon72:c.C13113T:p.I4371I 0.56 0.27 0.69 0.48 0.73 0.78 0.6839 0.3117 0.7489 0.4525 0.7205 0.7341 0.7018 0.7740 0.6 0.32 0.74 0.42 0.61 rs990626 COSM3757753 1(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117510.3|RCV000272495.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6931 0.3059 0.7353 0.6514 0.4638 0.7152 0.7460 0.6988 0.7732 0.6049 0.3093 0.7422 0.6523 0.4702 0.7215 0.7494 0.6994 hom 1781.74 57 2 169997051 . G A 1781.74 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=31.26;VQSLOD=9.4773;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1815,141,0 2 170003432 170003432 T G exonic LRP2 nonsynonymous SNV LRP2:NM_004525:exon69:c.A12628C:p.I4210L 0.56 0.15 0.73 0.49 0.79 0.81 0.7176 0.2375 0.7843 0.4631 0.7453 0.7851 0.7257 0.8086 0.6 0.24 0.79 0.43 0.75 rs4667591 COSM1401028 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117509.3|RCV000372220.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . 0.0 0.912 D 0.995 0.657 D 0.992 0.790 D 0.000 0.843 N 0.000 0.588 P 3.205 0.894 M -3.03 0.923 D -1.91 0.444 N 0.301 0.361 -0.903 0.477 T 0.000 0.000 T . . . 6.597 0.907 31 0.995 0.698 0.980 0.786 D c 0.732 0.657 1.000 0.432 0.638 0.428 0 4.5 0.542 6.263 0.723 1.061 0.807 1.000 0.715 1.000 0.888 12.950 0.576 Six-bladed beta-propeller\x2c TolB-like . . 0.7261 0.2223 0.7800 0.8445 0.4599 0.7300 0.7850 0.7551 0.8068 0.6054 0.2251 0.7847 0.8212 0.4584 0.7354 0.7908 0.7055 hom 1380.62 44 2 170003432 . T G 1380.62 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=31.38;VQSLOD=9.3841;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1414,108,0 2 170010985 170010985 T C exonic LRP2 nonsynonymous SNV LRP2:NM_004525:exon66:c.A12280G:p.K4094E 0.78 0.92 0.79 0.52 0.76 0.86 0.7621 0.8951 0.8038 0.4841 0.7259 0.7491 0.7517 0.8625 0.8 0.89 0.76 0.73 0.71 rs2075252 COSM4001308 4(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117508.3|RCV000310751.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.983 0.249 P -2.34 0.001 N -2.83 0.913 D 0.93 0.016 N 0.034 0.014 -0.933 0.437 T 0.000 0.000 T . . . 2.044 0.306 16.49 0.335 0.020 0.232 0.218 N c -0.853 -0.564 1.000 0.747 0.554 0.246 0 5.55 0.832 4.866 0.625 0.016 0.142 1.000 0.715 0.219 0.221 14.652 0.683 Six-bladed beta-propeller\x2c TolB-like . . 0.7613 0.8992 0.8002 0.7630 0.4911 0.7185 0.7536 0.7625 0.8601 0.7846 0.8949 0.8158 0.7748 0.4812 0.7202 0.7690 0.7403 hom 1771.69 58 2 170010985 . T C 1771.69 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=30.55;VQSLOD=9.1590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1805,144,0 2 170032989 170032989 C T exonic LRP2 synonymous SNV LRP2:NM_004525:exon54:c.G10503A:p.Q3501Q 0.38 0.3 0.63 0.11 0.5 0.47 0.4725 0.3188 0.6766 0.1025 0.4603 0.5066 0.4524 0.4887 0.45 0.32 0.52 0.27 0.49 rs2229265 COSM4133222 1(oesophagus);1(thyroid);2(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117498.3|RCV000300800.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4826 0.3165 0.6661 0.4593 0.0972 0.4525 0.5153 0.4951 0.4891 0.4346 0.3115 0.6635 0.4834 0.0901 0.4642 0.5195 0.4827 hom 3467.46 107 2 170032989 . C T 3467.46 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9461;MQ=59.78;MQ0=0;QD=32.41;VQSLOD=9.0464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3467,289,0 2 170053505 170053505 C T exonic LRP2 nonsynonymous SNV LRP2:NM_004525:exon46:c.G8614A:p.A2872T 0.27 0.2 0.2 0.53 0.26 0.16 0.2677 0.1967 0.1715 0.5647 0.3528 0.2760 0.2661 0.1574 0.24 0.19 0.26 0.24 0.31 rs2228171 COSM3757754 5(soft_tissue);2(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117550.3|RCV000272307.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . 0.962 0.021 T 0.0 0.026 B 0.0 0.013 B 0.177 0.172 N 1 0.090 P 0.17 0.090 N -3.77 0.956 D 0.92 0.016 N 0.013 0.002 -0.933 0.437 T 0.000 0.000 T . . . -1.382 0.020 0.003 0.598 0.062 0.010 0.037 N c -2.236 -2.286 1.000 0.747 0.570 0.322 0 -10.7 0.002 -1.277 0.029 -1.344 0.013 0.000 0.063 0.000 0.016 3.939 0.088 . . . 0.2668 0.1937 0.1739 0.2723 0.5603 0.3592 0.2702 0.2587 0.1609 0.2702 0.1934 0.1794 0.2185 0.5667 0.3531 0.2679 0.2959 het 988.31 104 2 170053505 . C T 988.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.474;DP=104;Dels=0.00;FS=1.016;HRun=0;HaplotypeScore=0.8941;MQ=59.42;MQ0=0;MQRankSum=-0.399;QD=9.50;ReadPosRankSum=-1.212;VQSLOD=6.0039;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,39:104:99:1018,0,1710 2 170099473 170099473 T C exonic LRP2 synonymous SNV LRP2:NM_004525:exon24:c.A3660G:p.A1220A 0.58 0.61 0.62 0.48 0.46 0.75 0.5231 0.6009 0.6833 0.4705 0.3846 0.4531 0.4901 0.7296 0.5 0.61 0.45 0.56 0.44 rs831042 COSM5008422 2(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117527.3|RCV000282794.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5245 0.6064 0.6664 0.5044 0.4740 0.3868 0.4534 0.4960 0.7268 0.4955 0.5972 0.6583 0.4967 0.4783 0.3812 0.4580 0.4612 het 2428.92 241 2 170099473 . T C 2428.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.101;DP=241;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.5868;MQ=59.58;MQ0=0;MQRankSum=1.722;QD=10.08;ReadPosRankSum=-0.095;VQSLOD=4.1548;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,109:241:99:2459,0,3602 2 170103336 170103336 T C exonic LRP2 synonymous SNV LRP2:NM_004525:exon21:c.A3069G:p.T1023T 0.62 0.72 0.64 0.48 0.46 0.77 0.5385 0.6920 0.6899 0.4720 0.3848 0.4603 0.5022 0.7500 0.54 0.69 0.46 0.58 0.44 rs831043 COSM5008423 2(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117524.3|RCV000314964.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5379 0.6986 0.6734 0.5390 0.4750 0.3872 0.4587 0.5104 0.7466 0.5244 0.6903 0.6659 0.5265 0.4794 0.3824 0.4614 0.4691 het 1703.56 140 2 170103336 . T C 1703.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.527;DP=140;Dels=0.00;FS=6.391;HRun=1;HaplotypeScore=3.6035;MQ=59.51;MQ0=0;MQRankSum=-2.314;QD=12.17;ReadPosRankSum=1.082;VQSLOD=3.4861;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,67:140:99:1734,0,2117 2 170103351 170103351 G T exonic LRP2 synonymous SNV LRP2:NM_004525:exon21:c.C3054A:p.T1018T 0.46 0.21 0.56 0.48 0.46 0.69 0.4921 0.2761 0.6593 0.4670 0.4209 0.4638 0.4670 0.6682 0.4 0.29 0.46 0.4 0.48 rs2075249 COSM5009638 1(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117523.3|RCV000369606.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5014 0.2814 0.6411 0.5605 0.4708 0.4226 0.4604 0.4861 0.6653 0.4097 0.2759 0.6100 0.5367 0.4701 0.4083 0.4654 0.4469 het 1785.90 127 2 170103351 . G T 1785.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.081;DP=127;Dels=0.00;FS=1.555;HRun=2;HaplotypeScore=7.0148;MQ=59.34;MQ0=0;MQRankSum=0.837;QD=14.06;ReadPosRankSum=-1.091;VQSLOD=4.6911;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,62:127:99:1816,0,1733 2 170115588 170115588 T C exonic LRP2 synonymous SNV LRP2:NM_004525:exon17:c.A2460G:p.T820T 0.62 0.71 0.64 0.48 0.48 0.78 0.5464 0.6887 0.7043 0.4714 0.3904 0.4710 0.5165 0.7553 0.54 0.69 0.47 0.61 0.48 rs2241190 COSM5008424 2(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117518.3|RCV000288847.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5462 0.6955 0.6862 0.5405 0.4750 0.3919 0.4700 0.5293 0.7523 0.5306 0.6866 0.6806 0.5265 0.4804 0.3874 0.4732 0.4805 het 2328.04 185 2 170115588 . T C 2328.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.286;DP=185;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4716;MQ=58.74;MQ0=0;MQRankSum=-0.149;QD=12.58;ReadPosRankSum=1.567;VQSLOD=5.9954;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,93:185:99:2358,0,2222 2 170129528 170129528 G A exonic LRP2 synonymous SNV LRP2:NM_004525:exon15:c.C2025T:p.V675V 0.61 0.5 0.5 0.89 0.66 0.49 0.6245 0.5137 0.4558 0.9105 0.6680 0.6596 0.6663 0.5004 0.61 0.52 0.67 0.54 0.68 rs830994 . . other|Benign not_specified|Donnai_Barrow_syndrome RCV000117515.3|RCV000404343.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6263 0.5150 0.4781 0.7063 0.9166 0.6686 0.6589 0.6403 0.5034 0.6273 0.5151 0.4952 0.6954 0.9276 0.6726 0.6561 0.6265 het 2719.93 205 2 170129528 . G A 2719.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.914;DP=205;DS;Dels=0.00;FS=0.642;HRun=1;HaplotypeScore=3.9620;MQ=58.32;MQ0=0;MQRankSum=0.279;QD=13.27;ReadPosRankSum=-1.131;VQSLOD=5.5012;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,97:205:99:2750,0,2989 2 170175334 170175334 T C exonic LRP2 nonsynonymous SNV LRP2:NM_004525:exon3:c.A248G:p.N83S 0.31 0.48 0.21 0.28 0.28 0.2 0.2783 0.4454 0.1494 0.2813 0.2578 0.2952 0.2654 0.2016 0.34 0.43 0.29 0.38 0.3 rs2229263 COSM4001310 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117519.3|RCV000340258.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . 0.822 0.029 T 0.0 0.102 B 0.001 0.104 B 0.022 0.016 N 1 0.090 P 0.08 0.083 N -3.67 0.953 D -0.06 0.079 N 0.018 0.003 -0.987 0.334 T 0.000 0.000 T . . . -2.266 0.005 0.001 0.294 0.016 0.065 0.124 N c -1.342 -1.380 0.001 0.082 0.615 0.372 0 -6.27 0.018 -0.752 0.049 -0.261 0.088 0.000 0.063 0.462 0.264 2.145 0.035 Low-density lipoprotein (LDL) receptor class A\x2c conserved site . . 0.2719 0.4482 0.1623 0.3349 0.2787 0.2614 0.296 0.2697 0.2 0.3342 0.4580 0.1850 0.3444 0.2724 0.2653 0.2972 0.2699 het 1529.63 147 2 170175334 . T C 1529.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.995;DP=147;Dels=0.00;FS=8.681;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=0.614;QD=10.41;ReadPosRankSum=-0.590;VQSLOD=4.8391;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,62:147:99:1560,0,2236 2 170218847 170218847 C G exonic LRP2 synonymous SNV LRP2:NM_004525:exon1:c.G63C:p.A21A 0.98 0.95 0.99 1. 1. 1. 0.9971 0.9613 0.9990 1 1 0.9999 0.9965 0.9998 0.99 0.97 1. 0.9 0.28 rs1559014 COSM3749605 1(thyroid);1(large_intestine) other|Benign not_specified|Donnai_Barrow_syndrome RCV000117542.3|RCV000366077.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857277:222448:ORPHA2143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9977 0.9632 0.9984 1 1 1 0.9999 0.9982 0.9998 0.9902 0.9655 0.9988 1 1 1 0.9999 0.9990 hom 340.60 14 2 170218847 . C G 340.60 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9867;MQ=56.82;MQ0=0;QD=24.33;VQSLOD=5.5895;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:27.09:374,27,0 2 170367099 170367099 G A exonic KLHL41 nonsynonymous SNV KLHL41:NM_006063:exon1:c.G811A:p.A271T 0.06 0.024 0.059 0.015 0.12 0.091 0.0874 0.0391 0.0427 0.0154 0.1083 0.1108 0.1004 0.0833 0.088 0.042 0.11 0.054 0.15 rs28763868 COSM4001311 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000241752.1 MedGen CN169374 . . . . . . 0.507 0.076 T 0.003 0.102 B 0.008 0.127 B 0.012 0.291 N 0.989 0.243 P 0 0.065 N -0.67 0.725 T -0.66 0.191 N 0.004 0.000 -1.085 0.063 T 0.004 0.012 T . . . -2.062 0.007 0.001 0.806 0.128 0.710 0.345 D c -1.561 -1.407 1.000 0.500 0.554 0.283 0 2.57 0.298 3.020 0.491 -0.411 0.061 0.996 0.391 0.152 0.205 10.982 0.465 . . . 0.0862 0.0383 0.0484 0.0731 0.0150 0.1088 0.1132 0.0881 0.0807 0.0801 0.0355 0.0561 0.0993 0.0198 0.1045 0.107 0.0916 het 1432.67 123 2 170367099 . G A 1432.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.919;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4052;MQ=59.15;MQ0=0;MQRankSum=1.032;QD=11.65;ReadPosRankSum=1.357;VQSLOD=6.1719;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,57:123:99:1463,0,1557 2 170402752 170402752 T C exonic FASTKD1 synonymous SNV FASTKD1:NM_001322048:exon7:c.A1608G:p.S536S,FASTKD1:NM_001322049:exon7:c.A1608G:p.S536S,FASTKD1:NM_001281476:exon8:c.A1677G:p.S559S,FASTKD1:NM_001322046:exon8:c.A1677G:p.S559S,FASTKD1:NM_024622:exon8:c.A1677G:p.S559S 0.12 0.014 0.1 0.2 0.068 0.24 0.1104 0.0293 0.1051 0.1913 0.0972 0.0865 0.0940 0.2531 0.065 0.031 0.082 0.087 0.098 rs2290010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1043 0.0267 0.0985 0.0695 0.1864 0.0922 0.0837 0.0922 0.2033 0.0693 0.0252 0.0933 0.0563 0.1782 0.0928 0.0746 0.0998 het 1013.09 86 2 170402752 . T C 1013.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.862;DP=86;Dels=0.00;FS=0.809;HRun=1;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;MQRankSum=0.583;QD=11.78;ReadPosRankSum=1.231;VQSLOD=6.0749;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,42:86:99:1043,0,1140 2 170403030 170403030 T C exonic FASTKD1 nonsynonymous SNV FASTKD1:NM_001322048:exon7:c.A1330G:p.M444V,FASTKD1:NM_001322049:exon7:c.A1330G:p.M444V,FASTKD1:NM_001281476:exon8:c.A1399G:p.M467V,FASTKD1:NM_001322046:exon8:c.A1399G:p.M467V,FASTKD1:NM_024622:exon8:c.A1399G:p.M467V 0.54 0.49 0.67 0.51 0.62 0.48 0.5731 0.5111 0.7159 0.5194 0.5899 0.5753 0.5782 0.5242 0.56 0.5 0.58 0.53 0.45 rs2253680 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.803 0.068 N 1 0.090 P 0.11 0.085 N 2.29 0.171 T -0.67 0.193 N 0.018 0.003 -0.945 0.419 T 0.000 0.000 T . . . -2.969 0.001 0.001 0.258 0.012 0.053 0.110 N c -1.992 -2.059 0.934 0.271 0.707 0.730 0 -9.13 0.006 -0.283 0.084 -0.736 0.035 0.000 0.063 0.000 0.016 3.380 0.068 . ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7|ENSG00000144362.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5853 0.5141 0.7138 0.6428 0.5202 0.5970 0.5737 0.6140 0.527 0.5643 0.5164 0.6603 0.5767 0.5377 0.6078 0.5784 0.5767 het 1974.04 129 2 170403030 . T C 1974.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.949;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7005;MQ=59.50;MQ0=0;MQRankSum=0.040;QD=15.30;ReadPosRankSum=0.594;VQSLOD=6.5425;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,71:129:99:2004,0,1586 2 170411693 170411693 T C exonic FASTKD1 synonymous SNV FASTKD1:NM_001322048:exon6:c.A1086G:p.L362L,FASTKD1:NM_001322049:exon6:c.A1086G:p.L362L,FASTKD1:NM_001281476:exon7:c.A1155G:p.L385L,FASTKD1:NM_001322046:exon7:c.A1155G:p.L385L,FASTKD1:NM_024622:exon7:c.A1155G:p.L385L 0.68 0.69 0.75 0.76 0.68 0.54 0.6636 0.6874 0.8028 0.7723 0.6416 0.6460 0.6718 0.5737 0.66 0.68 0.65 0.71 0.48 rs2683455 COSM4133232 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6730 0.6902 0.7986 0.7145 0.7754 0.6458 0.6448 0.6887 0.5763 0.6711 0.6940 0.7601 0.6987 0.7815 0.6580 0.6447 0.65 het 980.73 81 2 170411693 . T C 980.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.287;DP=81;Dels=0.00;FS=0.876;HRun=0;HaplotypeScore=0.9832;MQ=58.76;MQ0=0;MQRankSum=-0.685;QD=12.11;ReadPosRankSum=0.723;VQSLOD=5.8702;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,39:81:99:1011,0,1015 2 170493103 170493103 T A exonic PPIG nonsynonymous SNV PPIG:NM_004792:exon14:c.T1335A:p.D445E 0.58 0.76 0.46 0.43 0.54 0.64 0.5724 0.7257 0.4768 0.4306 0.5600 0.5710 0.5634 0.6276 0.62 0.72 0.57 0.59 0.42 rs1050354 COSM148985 1(haematopoietic_and_lymphoid_tissue);1(stomach);8(prostate);1(large_intestine) . . . . . . . . . . . 0.128 0.269 T 0.0 0.170 B 0.001 0.121 B 0.000 0.629 D 0.123 0.357 P 0 0.065 N 2.52 0.211 T 0.17 0.085 N 0.014 0.052 -1.038 0.179 T 0.000 0.000 T . . . 0.855 0.176 9.800 0.956 0.267 0.680 0.334 D c -0.383 -0.163 0.964 0.287 0.732 0.924 0 4.74 0.596 0.658 0.245 1.061 0.807 0.997 0.399 0.999 0.750 10.071 0.413 . ENSG00000144362.7|ENSG00000229827.1|ENSG00000144362.7|ENSG00000144362.7|ENSG00000229827.1|ENSG00000144362.7|ENSG00000229827.1|ENSG00000144362.7|ENSG00000144362.7|ENSG00000229827.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid 0.5580 0.7262 0.4570 0.5545 0.4265 0.5486 0.5689 0.5477 0.6241 0.6027 0.7298 0.4677 0.5728 0.4203 0.5424 0.5718 0.5763 het 457.54 28 2 170493103 . T A 457.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.263;DP=28;Dels=0.00;FS=3.799;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.476;QD=16.34;ReadPosRankSum=-1.673;VQSLOD=4.4283;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,19:28:99:488,0,229 2 170605981 170605981 C T exonic KLHL23;PHOSPHO2-KLHL23 synonymous SNV KLHL23:NM_144711:exon4:c.C1416T:p.G472G,PHOSPHO2-KLHL23:NM_001199290:exon6:c.C1416T:p.G472G 0.99 0.97 1. 1. 1. 1. 0.9976 0.9726 0.9993 1 1 1.0000 0.9989 1 0.99 0.97 1. 0.98 1. rs4667607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9981 0.9716 0.9990 1 1 1 1.0000 0.9991 0.9999 0.9928 0.9744 0.9988 1 1 1 1 1 hom 3056.58 109 2 170605981 . C T 3056.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.700;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5088;MQ=59.36;MQ0=0;MQRankSum=-0.898;QD=28.04;ReadPosRankSum=-1.059;VQSLOD=7.4150;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,107:109:99:3090,253,0 2 171070912 171070912 T C exonic MYO3B synonymous SNV MYO3B:NM_001083615:exon4:c.T345C:p.T115T,MYO3B:NM_138995:exon4:c.T345C:p.T115T 0.42 0.45 0.33 0.45 0.38 0.45 0.4046 0.4326 0.3102 0.4792 0.4044 0.3936 0.4167 0.4590 0.39 0.41 0.39 0.36 0.48 rs13385825 COSM3757766;COSM3757767 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4012 0.4362 0.3100 0.3955 0.4745 0.4137 0.3925 0.3965 0.4677 0.4032 0.4302 0.3329 0.4007 0.4715 0.3978 0.3833 0.4358 het 1705.29 152 2 171070912 . T C 1705.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.221;DP=152;Dels=0.00;FS=5.058;HRun=1;HaplotypeScore=3.4222;MQ=58.82;MQ0=0;MQRankSum=0.195;QD=11.22;ReadPosRankSum=0.398;VQSLOD=5.1422;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,68:152:99:1735,0,2051 2 171073887 171073887 G A exonic MYO3B synonymous SNV MYO3B:NM_001083615:exon6:c.G585A:p.P195P,MYO3B:NM_138995:exon6:c.G585A:p.P195P 0.58 0.63 0.42 0.57 0.56 0.63 0.5554 0.6188 0.3980 0.5931 0.5859 0.5491 0.5567 0.6217 0.58 0.63 0.55 0.54 0.52 rs2161916 COSM3757768 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5489 0.6199 0.3988 0.5861 0.5845 0.5921 0.5461 0.5407 0.6260 0.5617 0.6168 0.4510 0.5430 0.5863 0.5669 0.5312 0.5787 het 2504.46 223 2 171073887 . G A 2504.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.369;DP=223;DS;Dels=0.00;FS=10.697;HRun=0;HaplotypeScore=3.4250;MQ=58.98;MQ0=0;MQRankSum=-0.098;QD=11.23;ReadPosRankSum=-1.393;VQSLOD=4.3272;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,95:223:99:2534,0,3618 2 171225841 171225841 A G exonic MYO3B nonsynonymous SNV MYO3B:NM_001083615:exon9:c.A925G:p.K309E,MYO3B:NM_138995:exon9:c.A925G:p.K309E 0.3 0.076 0.42 0.42 0.41 0.3 0.3688 0.1093 0.4766 0.4181 0.4331 0.3920 0.3753 0.3017 0.31 0.11 0.4 0.28 0.4 rs4668246 COSM3736223;COSM3736222 1(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.003 0.080 B 0.042 0.239 N 0.955 0.263 P 0.175 0.091 N -1.09 0.773 T 1.57 0.007 N 0.074 0.318 -0.910 0.469 T 0.000 0.000 T . . . 0.991 0.189 10.61 0.831 0.140 0.692 0.338 D c 0.020 0.137 1.000 0.480 0.554 0.283 0 3.72 0.417 2.175 0.419 1.194 0.916 1.000 0.715 0.998 0.697 7.308 0.255 . . . 0.3787 0.1072 0.4652 0.3594 0.4259 0.4336 0.3956 0.3655 0.3003 0.3261 0.1117 0.4234 0.3567 0.4344 0.4143 0.4103 0.3643 het 1006.27 91 2 171225841 . A G 1006.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.163;DP=91;Dels=0.00;FS=1.728;HRun=0;HaplotypeScore=3.9041;MQ=59.34;MQ0=0;MQRankSum=-0.164;QD=11.06;ReadPosRankSum=-0.881;VQSLOD=6.0367;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,41:91:99:1036,0,1283 2 171242761 171242761 G A exonic MYO3B synonymous SNV MYO3B:NM_001083615:exon13:c.G1353A:p.Q451Q,MYO3B:NM_138995:exon13:c.G1353A:p.Q451Q 0.11 0.046 0.097 0.079 0.16 0.2 0.1555 0.0647 0.0660 0.0885 0.1570 0.1809 0.1403 0.2043 0.14 0.058 0.17 0.087 0.15 rs17497636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1504 0.0630 0.0685 0.1855 0.0895 0.1421 0.1811 0.1490 0.2010 0.1417 0.0688 0.0827 0.2185 0.0880 0.1572 0.1861 0.1701 het 501.47 55 2 171242761 . G A 501.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.841;DP=55;Dels=0.00;FS=3.910;HRun=1;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;MQRankSum=0.094;QD=9.12;ReadPosRankSum=-0.623;VQSLOD=6.1707;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,23:55:99:531,0,808 2 171260787 171260787 G A exonic MYO3B nonsynonymous SNV MYO3B:NM_001083615:exon20:c.G2308A:p.V770I,MYO3B:NM_138995:exon20:c.G2308A:p.V770I 0.78 0.68 0.89 0.73 0.9 0.76 0.8507 0.7091 0.8427 0.6937 0.9273 0.9040 0.8764 0.7745 0.84 0.73 0.9 0.77 0.88 rs6736609 . . . . . . . . . . . . . 0.215 0.193 T 0.0 0.026 B 0.003 0.080 B 0.230 0.159 N 1 0.090 P 0.28 0.100 N -2.21 0.870 D -0.12 0.088 N 0.053 0.260 -0.982 0.347 T 0.000 0.000 T . . . -0.791 0.041 0.045 0.674 0.081 0.021 0.062 N c -1.624 -1.707 0.475 0.207 0.554 0.246 0 -7.46 0.012 -0.002 0.128 -1.077 0.019 0.000 0.063 0.004 0.083 14.019 0.639 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.8543 0.7071 0.8511 0.9167 0.6946 0.9267 0.9007 0.8833 0.7744 0.8368 0.7177 0.8636 0.9073 0.6788 0.9235 0.8968 0.8816 hom 6194.76 210 2 171260787 . G A 6194.76 Mask AC=2;AF=1.00;AN=2;DP=210;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2231;MQ=58.52;MQ0=0;QD=29.50;VQSLOD=8.4901;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:6193,502,0 2 171260820 171260820 T C exonic MYO3B synonymous SNV MYO3B:NM_001083615:exon20:c.T2341C:p.L781L,MYO3B:NM_138995:exon20:c.T2341C:p.L781L 0.78 0.68 0.89 0.73 0.9 0.77 0.8509 0.7093 0.8426 0.6951 0.9273 0.9041 0.8767 0.7749 0.84 0.73 0.9 0.77 0.9 rs6751520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8546 0.7073 0.8513 0.9166 0.6953 0.9265 0.9008 0.8835 0.7757 0.8365 0.7179 0.8640 0.9073 0.6792 0.9233 0.8963 0.8816 hom 4826.63 149 2 171260820 . T C 4826.63 Mask AC=2;AF=1.00;AN=2;DP=149;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9385;MQ=58.76;MQ0=0;QD=32.39;VQSLOD=9.6591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4826,373,0 2 171355198 171355198 A G exonic MYO3B synonymous SNV MYO3B:NM_001083615:exon26:c.A3111G:p.V1037V,MYO3B:NM_138995:exon26:c.A3111G:p.V1037V 0.98 0.95 0.98 0.99 1. 0.99 0.9911 0.9459 0.9697 0.9919 1 0.9997 0.99 0.9939 0.98 0.95 1. 0.97 0.98 rs6761297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.9434 0.9744 1 0.9922 1 0.9997 0.9929 0.9941 0.9847 0.9492 0.9869 1 0.9938 1 0.9996 0.9949 hom 3165.94 95 2 171355198 . A G 3165.94 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=59.76;MQ0=0;QD=33.33;VQSLOD=9.5875;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3199,253,0 2 171356274 171356274 G A exonic MYO3B nonsynonymous SNV MYO3B:NM_001083615:exon27:c.G3245A:p.R1082K,MYO3B:NM_138995:exon27:c.G3245A:p.R1082K 0.9 0.68 0.95 0.99 1. 0.99 0.9721 0.7320 0.9608 0.9919 1 0.9987 0.9822 0.9930 0.92 0.74 1. 0.85 0.99 rs10185178 . . . . . . . . . . . . . 0.724 0.039 T 0.001 0.119 B 0.008 0.127 B 0.000 0.537 D 0.341 0.330 P -0.345 0.033 N -0.53 0.708 T 0.31 0.044 N 0.062 0.253 -0.935 0.434 T 0.000 0.000 T . . . 0.610 0.152 8.222 0.819 0.134 0.796 0.392 D c -0.687 -0.439 0.083 0.159 0.554 0.283 0 3.88 0.438 1.085 0.302 0.128 0.215 1.000 0.715 0.980 0.490 9.298 0.368 IQ motif\x2c EF-hand binding site|P-loop containing nucleoside triphosphate hydrolase . . 0.9758 0.7310 0.9635 0.9988 0.9923 1 0.9986 0.9825 0.9930 0.9271 0.7488 0.9701 0.9967 0.9938 1 0.999 0.9837 hom 3417.59 112 2 171356274 . G A 3417.59 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.7887;MQ=58.31;MQ0=0;QD=30.51;VQSLOD=9.0401;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3417,262,0 2 171572940 171572940 G A exonic SP5 nonsynonymous SNV SP5:NM_001003845:exon2:c.G223A:p.A75T 0.44 0.51 0.46 0.6 0.3 0.31 0.3800 0.5040 0.5016 0.5852 0.3591 0.3363 0.3446 0.3020 0.38 0.48 0.33 0.076 0.23 rs3749036 COSM3749606 2(thyroid);12(large_intestine) . . . . . . . . . . . 0.599 0.056 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 D 0.980 0.251 P -0.895 0.014 N 3.02 0.090 T 0.72 0.021 N 0.017 0.003 -0.997 0.307 T 0.000 0.000 T . . . 1.066 0.196 11.03 0.974 0.335 0.534 0.291 D c -0.976 -0.837 1.000 0.747 0.598 0.340 0 0.867 0.181 0.440 0.212 0.875 0.382 0.002 0.151 0.969 0.458 3.349 0.067 . ENSG00000128683.9|ENSG00000222033.1|ENSG00000128683.9|ENSG00000128683.9|ENSG00000128683.9|ENSG00000128683.9 Adipose_Subcutaneous|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Thyroid 0.3790 0.5028 0.4795 0.3480 0.5875 0.3251 0.3312 0.3614 0.2966 0.3936 0.4875 0.4450 0.3377 0.5870 0.3208 0.3372 0.3309 het 556.72 35 2 171572940 . G A 556.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.138;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.47;MQ0=0;MQRankSum=0.589;QD=15.91;ReadPosRankSum=0.320;VQSLOD=6.5162;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,21:35:99:587,0,319 2 172188368 172188368 C T exonic METTL8 synonymous SNV METTL8:NM_001321161:exon5:c.G531A:p.P177P,METTL8:NM_001321162:exon6:c.G516A:p.P172P,METTL8:NM_001321160:exon7:c.G666A:p.P222P 0.13 0.14 0.13 . 0.24 0.17 0.2511 0.1958 0.1683 0.0034 0.3427 0.3069 0.2711 0.1873 0.22 0.16 0.25 0.098 0.2 rs13023973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1903 0.1628 0.1035 0.2195 0.0023 0.2758 0.2402 0.1980 0.1565 0.2100 0.1603 0.1148 0.2086 0.0025 0.2752 0.2507 0.2229 het 101.55 10 2 172188368 . C T 101.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.668;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.103;QD=10.15;ReadPosRankSum=-0.336;VQSLOD=11.9026;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:132,0,122 2 172216969 172216969 T C exonic METTL8 synonymous SNV METTL8:NM_001321161:exon2:c.A63G:p.K21K,METTL8:NM_001321162:exon3:c.A48G:p.K16K,METTL8:NM_001321160:exon4:c.A198G:p.K66K 0.31 0.48 0.26 0.15 0.33 0.28 0.3084 0.4664 0.1670 0.1342 0.3354 0.3377 0.3245 0.2678 0.38 0.46 0.35 0.38 0.31 rs3731986 COSM4001322;COSM4001320;COSM4001321 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3004 0.4689 0.1806 0.3909 0.1322 0.3417 0.3342 0.3114 0.2584 0.3621 0.4618 0.2124 0.3477 0.1469 0.3438 0.3431 0.3221 het 835.74 66 2 172216969 . T C 835.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.687;DP=66;Dels=0.00;FS=3.368;HRun=1;HaplotypeScore=4.8965;MQ=57.69;MQ0=0;MQRankSum=0.532;QD=12.66;ReadPosRankSum=1.020;VQSLOD=4.7565;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:32,34:66:99:866,0,844 2 172411273 172411273 G A exonic CYBRD1 nonsynonymous SNV CYBRD1:NM_001256909:exon4:c.G623A:p.S208N,CYBRD1:NM_024843:exon4:c.G797A:p.S266N 0.68 0.93 0.6 0.4 0.67 0.72 0.6517 0.8829 0.5658 0.3709 0.6288 0.6666 0.6073 0.6640 0.73 0.88 0.66 0.69 0.64 rs10455 . . . . . . . . . . . . . 0.926 0.023 T 0.0 0.026 B 0.001 0.040 B 0.315 0.144 N 1.000 0.350 P -0.28 0.037 N 0.39 0.574 T 0.06 0.064 N 0.005 0.001 -0.926 0.447 T 0.000 0.000 T . . . -0.592 0.050 0.131 0.422 0.031 0.059 0.117 N c -1.527 -1.493 0.999 0.394 0.732 0.924 0 -3.33 0.046 -1.082 0.035 -0.647 0.041 0.002 0.151 0.859 0.359 20.026 0.975 Cytochrome b561/ferric reductase transmembrane ENSG00000071967.7 Cells_Transformed_fibroblasts 0.6418 0.8887 0.5791 0.5890 0.3746 0.6270 0.6713 0.6303 0.6603 0.7128 0.8893 0.6172 0.5497 0.3717 0.6223 0.6791 0.6728 het 1038.43 91 2 172411273 . G A 1038.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.809;DP=91;Dels=0.00;FS=1.690;HRun=1;HaplotypeScore=0.8941;MQ=59.11;MQ0=0;MQRankSum=0.235;QD=11.41;ReadPosRankSum=1.220;VQSLOD=6.6018;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,43:91:99:1068,0,1309 2 172725301 172725301 A G exonic SLC25A12 synonymous SNV SLC25A12:NM_003705:exon3:c.T99C:p.Y33Y 0.79 0.58 0.73 0.92 0.92 0.86 0.8567 0.6236 0.7071 0.9015 0.9008 0.9097 0.8822 0.8518 0.81 0.63 0.91 0.76 0.83 rs1878583 . . Benign Hypomyelination\x2c_global_cerebral RCV000313636.1 MedGen:OMIM:Orphanet C2751855:612949:ORPHA353217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8552 0.6202 0.7132 0.9062 0.9079 0.8846 0.9118 0.8771 0.8505 0.8235 0.6350 0.7332 0.8940 0.9106 0.8900 0.9087 0.8663 het 1279.78 74 2 172725301 . A G 1279.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.672;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4105;MQ=59.24;MQ0=0;MQRankSum=0.765;QD=17.29;ReadPosRankSum=-0.358;VQSLOD=6.1683;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,44:74:99:1310,0,696 2 172966250 172966250 T C exonic DLX2 synonymous SNV DLX2:NM_004405:exon2:c.A525G:p.Q175Q 0.36 0.1 0.31 0.66 0.39 0.4 0.4103 0.1530 0.3469 0.6359 0.4827 0.4184 0.4148 0.4304 0.31 0.15 0.4 0.32 0.3 rs2228184 COSM3766522 1(urinary_tract);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4021 0.1443 0.3405 0.3124 0.6319 0.4631 0.4112 0.3751 0.4251 0.3576 0.1501 0.3672 0.3245 0.6301 0.4696 0.4192 0.4224 het 409.76 27 2 172966250 . T C 409.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.180;DP=27;Dels=0.00;FS=4.678;HRun=0;HaplotypeScore=4.3179;MQ=56.39;MQ0=1;MQRankSum=-0.052;QD=15.18;ReadPosRankSum=-0.311;VQSLOD=2.6677;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,15:27:99:440,0,290 2 173339808 173339808 G A exonic ITGA6 nonsynonymous SNV ITGA6:NM_000210:exon7:c.G1138A:p.A380T,ITGA6:NM_001079818:exon7:c.G1138A:p.A380T,ITGA6:NM_001316306:exon7:c.G781A:p.A261T 0.25 0.33 0.22 0.093 0.28 0.31 0.2810 0.3351 0.2593 0.0910 0.2727 0.2928 0.3084 0.3156 0.31 0.34 0.3 0.33 0.32 rs11895564 COSM3757775;COSM3757774;COSM3757773 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia RCV000279397.1 MedGen:OMIM:Orphanet C1856934:226730:ORPHA79403 . . . . . . 0.145 0.251 T 0.571 0.453 P 0.389 0.580 B 0.000 0.559 D 0.000 0.524 P 1.89 0.503 L -0.7 0.728 T -1.58 0.381 N 0.292 0.418 -1.136 0.015 T 0.000 0.000 T . . . 3.009 0.422 22.3 0.999 0.944 0.947 0.618 D c 0.222 0.269 1.000 0.489 0.707 0.730 0 4.46 0.534 3.205 0.505 0.017 0.142 1.000 0.715 0.921 0.396 13.351 0.599 . ENSG00000226963.1 Nerve_Tibial 0.2798 0.3352 0.2597 0.3450 0.0889 0.2655 0.2960 0.2805 0.3118 0.2847 0.3284 0.2812 0.3311 0.0852 0.2676 0.2834 0.2955 hom 2072.36 71 2 173339808 . G A 2072.36 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.74;MQ0=0;QD=29.19;VQSLOD=7.5848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2105,169,0 2 173352103 173352103 C T exonic ITGA6 synonymous SNV ITGA6:NM_000210:exon15:c.C2082T:p.D694D,ITGA6:NM_001079818:exon15:c.C2082T:p.D694D,ITGA6:NM_001316306:exon15:c.C1725T:p.D575D 0.35 0.2 0.36 0.54 0.22 0.46 0.2974 0.2140 0.4465 0.5436 0.3436 0.2177 0.3216 0.4184 0.21 0.22 0.21 0.29 0.19 rs2293649 COSM3757776;COSM3757778;COSM3757777 1(thyroid);1(large_intestine) Benign Epidermolysis_bullosa_junctionalis_with_pyloric_atresia RCV000324684.1 MedGen:OMIM:Orphanet C1856934:226730:ORPHA79403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3054 0.2120 0.4300 0.2557 0.5400 0.3433 0.2116 0.2911 0.4152 0.2531 0.2088 0.4069 0.2715 0.5333 0.3467 0.2136 0.3173 hom 3479.74 112 2 173352103 . C T 3479.74 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=31.07;VQSLOD=9.5529;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3479,274,0 2 174055646 174055646 T C exonic MAP3K20 synonymous SNV MAP3K20:NM_016653:exon6:c.T439C:p.L147L,MAP3K20:NM_133646:exon6:c.T439C:p.L147L 0.14 0.31 0.082 . 0.11 0.14 0.1061 0.2566 0.0539 0.0008 0.0534 0.1010 0.1139 0.1456 0.15 0.24 0.1 0.13 0.13 rs35853276 COSM4827968;COSM4827967 1(cervix) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1002 0.2623 0.0620 0.1679 0.0005 0.0506 0.0978 0.1040 0.1412 0.1314 0.2595 0.0861 0.2053 0.0019 0.0471 0.0934 0.1053 het 844.34 88 2 174055646 . T C 844.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.103;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.40;MQ0=0;MQRankSum=-2.232;QD=9.59;ReadPosRankSum=-0.060;VQSLOD=4.9610;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,33:88:99:874,0,1420 2 174128513 174128513 C T exonic MAP3K20 nonsynonymous SNV MAP3K20:NM_016653:exon19:c.C1592T:p.S531L 0.25 0.022 0.29 0.21 0.48 0.31 0.3871 0.0883 0.1965 0.2524 0.4636 0.4927 0.3806 0.3111 0.37 0.094 0.49 0.2 0.41 rs3769148 COSM3757779 1(large_intestine) . . . . . . . . . . . 0.036 0.433 D 0.002 0.090 B 0.0 0.013 B 0.759 0.096 N 1 0.090 P 1.01 0.254 L -0.98 0.758 T -1.4 0.346 N 0.032 0.021 -0.955 0.402 T 0.000 0.000 T . . . 1.134 0.203 11.40 0.926 0.214 0.175 0.196 N c -1.195 -1.180 1.000 0.462 0.732 0.924 0 0.342 0.152 0.595 0.236 0.852 0.362 0.000 0.063 0.522 0.275 2.427 0.042 . . . 0.3846 0.0825 0.2105 0.4582 0.2570 0.4625 0.4947 0.4006 0.3111 0.3483 0.0895 0.2446 0.4272 0.2902 0.4549 0.4813 0.3961 het 1447.82 133 2 174128513 . C T 1447.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.128;DP=133;Dels=0.00;FS=0.825;HRun=2;HaplotypeScore=3.7168;MQ=58.99;MQ0=0;MQRankSum=0.273;QD=10.89;ReadPosRankSum=-0.296;VQSLOD=6.3608;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,53:133:99:1478,0,2259 2 174820750 174820750 T C exonic SP3 nonsynonymous SNV SP3:NM_001017371:exon2:c.A286G:p.T96A,SP3:NM_001172712:exon4:c.A481G:p.T161A,SP3:NM_003111:exon4:c.A490G:p.T164A 0.13 0.0061 0.092 0.34 0.12 0.11 0.1322 0.0232 0.1146 0.3017 0.1742 0.1288 0.1322 0.1216 0.088 0.026 0.12 0.065 0.11 rs1047640 COSM148990;COSM4383326 1(stomach);6(soft_tissue);4(prostate);1(large_intestine) . . . . . . . . . . . 0.32 0.135 T 0.001 0.067 B 0.002 0.063 B 0.000 0.843 D 0.023 0.399 P 1.06 0.271 L 3.62 0.044 T -0.08 0.102 N 0.064 0.211 -0.925 0.449 T 0.000 0.000 T . . . -0.435 0.059 0.318 0.977 0.351 0.847 0.435 D c -0.237 -0.001 1.000 0.747 0.707 0.730 0 5.95 0.964 3.066 0.494 1.061 0.807 1.000 0.715 1.000 0.888 16.407 0.834 . . . 0.1357 0.0218 0.1206 0.1188 0.2982 0.1805 0.1281 0.1158 0.1216 0.1175 0.0256 0.1158 0.1391 0.2877 0.1783 0.1371 0.1334 het 2439.72 182 2 174820750 . T C 2439.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.596;DP=182;DS;Dels=0.00;FS=1.906;HRun=0;HaplotypeScore=4.7146;MQ=58.73;MQ0=0;MQRankSum=-1.951;QD=13.41;ReadPosRankSum=-0.129;VQSLOD=4.4015;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,89:182:99:2470,0,2364 2 175289259 175289259 G T exonic SCRN3 nonsynonymous SNV SCRN3:NM_001193528:exon7:c.G953T:p.S318I,SCRN3:NM_024583:exon7:c.G974T:p.S325I 0.011 . 0.011 . 0.041 0.0041 0.0277 0.0066 0.0156 0.0001 0.0381 0.0400 0.0265 0.0104 0.032 0.0095 0.044 0.011 0.016 rs41270195 . . . . . . . . . . . . . 0.249 0.172 T 0.005 0.119 B 0.007 0.121 B 0.020 0.271 N 1 0.090 N 1.46 0.370 L 3.08 0.085 T -0.45 0.148 N 0.068 0.055 -0.982 0.345 T 0.003 0.010 T . . . 0.338 0.127 6.060 0.745 0.104 0.066 0.124 N c -1.082 -1.092 0.000 0.069 0.732 0.924 0 -0.677 0.107 0.105 0.151 0.154 0.240 0.000 0.063 0.918 0.393 1.026 0.014 . . . 0.0274 0.0063 0.0151 0.0171 0.0001 0.0391 0.0415 0.0259 0.0103 0.0311 0.0081 0.0180 0.0166 0 0.0432 0.0457 0.0377 het 786.09 65 2 175289259 . G T 786.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.422;DP=65;Dels=0.00;FS=3.487;HRun=2;HaplotypeScore=0.9867;MQ=59.14;MQ0=0;MQRankSum=1.155;QD=12.09;ReadPosRankSum=0.403;VQSLOD=6.1935;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,29:65:99:816,0,985 2 175436940 175436940 G A exonic WIPF1 nonsynonymous SNV WIPF1:NM_001077269:exon5:c.C593T:p.P198L,WIPF1:NM_003387:exon5:c.C593T:p.P198L 0.91 0.81 0.97 0.99 0.95 0.87 0.9411 0.8431 0.9688 0.9906 0.9757 0.9564 0.9233 0.8810 0.92 0.85 0.96 0.85 0.81 rs4972450 . . Benign not_specified RCV000455771.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.058 0.224 N 0.905 0.276 P -2.28 0.001 N 1.68 0.390 T 1.02 0.075 N 0.029 0.039 -0.966 0.381 T 0.000 0.000 T . . . 0.950 0.185 10.37 0.707 0.091 0.053 0.110 N c -0.920 -0.655 1.000 0.480 0.707 0.730 0 5.02 0.666 2.498 0.448 0.228 0.256 1.000 0.715 0.942 0.416 10.491 0.437 . . . 0.9447 0.8371 0.9683 0.9317 0.9923 0.9762 0.9561 0.9492 0.8843 0.9292 0.8450 0.9558 0.8940 0.9926 0.9774 0.9571 0.9612 hom 3199.12 105 2 175436940 . G A 3199.12 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=30.47;VQSLOD=9.5056;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3232,250,0 2 177016728 177016728 T C exonic HOXD4 nonsynonymous SNV HOXD4:NM_014621:exon1:c.T367C:p.S123P 0.24 0.41 0.19 0.023 0.31 0.19 0.2642 0.3815 0.1451 0.0230 0.2864 0.3193 0.2595 0.1810 0.32 0.34 0.3 0.16 0.26 rs34727427 COSM3757784 1(large_intestine) . . . . . . . . . . . 0.325 0.133 T 0.0 0.026 B 0.0 0.013 B 0.195 0.033 N 0.000 0.588 P 0.445 0.128 N -2.85 0.914 D 0.03 0.066 N 0.013 0.003 -1.067 0.101 T 0.000 0.000 T . . . 1.004 0.190 10.68 0.945 0.244 0.263 0.227 N c -0.671 -0.490 1.000 0.500 0.646 0.450 0 2.91 0.328 1.926 0.395 -0.040 0.125 1.000 0.715 0.997 0.653 8.922 0.346 . ENSG00000128645.11|ENSG00000128652.7|ENSG00000226363.3|ENSG00000224189.2|ENSG00000128652.7|ENSG00000128645.11|ENSG00000128652.7|ENSG00000128652.7|ENSG00000128645.11|ENSG00000128652.7|ENSG00000128645.11|ENSG00000128652.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.2561 0.3733 0.1574 0.3686 0.0210 0.2832 0.3132 0.2777 0.1822 0.3009 0.3840 0.1730 0.3576 0.0148 0.2738 0.2986 0.2592 het 566.21 56 2 177016728 . T C 566.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.718;DP=56;Dels=0.00;FS=2.668;HRun=3;HaplotypeScore=2.4533;MQ=59.33;MQ0=0;MQRankSum=1.619;QD=10.11;ReadPosRankSum=-0.701;VQSLOD=6.1854;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,28:56:99:596,0,780 2 177034121 177034121 G T exonic HOXD3 synonymous SNV HOXD3:NM_006898:exon2:c.G279T:p.P93P 0.18 0.2 0.18 0.022 0.31 0.18 0.2488 0.2199 0.1367 0.0256 0.2836 0.3156 0.2522 0.1800 0.28 0.22 0.31 0.27 0.24 rs34729309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2468 0.2186 0.1486 0.3473 0.0249 0.2876 0.3146 0.2656 0.1820 0.2558 0.2237 0.1671 0.3444 0.0210 0.2777 0.2985 0.2490 het 970.70 63 2 177034121 . G T 970.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.159;DP=63;Dels=0.00;FS=7.854;HRun=0;HaplotypeScore=0.8321;MQ=59.70;MQ0=0;MQRankSum=0.463;QD=15.41;ReadPosRankSum=-0.394;VQSLOD=4.5604;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,35:63:99:1001,0,741 2 177036754 177036754 T C exonic HOXD3 synonymous SNV HOXD3:NM_006898:exon3:c.T1051C:p.L351L 0.82 0.95 0.8 0.77 0.68 0.86 0.7602 0.9002 0.8913 0.7727 0.7207 0.6914 0.7660 0.8585 0.75 0.88 0.68 0.75 0.56 rs1051929 COSM329400 1(haematopoietic_and_lymphoid_tissue);1(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7581 0.8994 0.8671 0.6927 0.7724 0.7083 0.6858 0.7507 0.8555 0.7578 0.8938 0.8174 0.6854 0.7596 0.7095 0.6900 0.7251 het 338.47 25 2 177036754 . T C 338.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.082;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=-2.638;QD=13.54;ReadPosRankSum=0.245;VQSLOD=4.5850;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:368,0,409 2 177054769 177054769 G A exonic HOXD1 nonsynonymous SNV HOXD1:NM_024501:exon2:c.G886A:p.A296T 0.19 0.33 0.15 0.015 0.25 0.13 0.2009 0.3019 0.1131 0.0220 0.2227 0.2402 0.2053 0.1245 0.26 0.3 0.23 0.22 0.17 rs6710142 . . . . . . . . . . . . . 0.2 0.203 T 0.024 0.178 B 0.005 0.121 B 0.005 0.331 N 1 0.090 P 1.445 0.365 L -2.71 0.906 D -0.65 0.189 N 0.006 0.000 -1.101 0.039 T 0.000 0.000 T . . . 0.577 0.149 7.999 0.877 0.168 0.299 0.237 N c -0.952 -0.907 1.000 0.408 0.658 0.486 0 1.3 0.207 0.186 0.167 0.032 0.150 0.000 0.063 0.014 0.122 3.167 0.061 . ENSG00000128645.11|ENSG00000226363.3|ENSG00000226363.3|ENSG00000128645.11|ENSG00000128645.11|ENSG00000128652.7|ENSG00000128645.11|ENSG00000128652.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Lung|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.1978 0.3024 0.1253 0.2812 0.0211 0.2231 0.2385 0.2140 0.1282 0.2320 0.3077 0.1348 0.2881 0.0179 0.2174 0.2216 0.1922 het 3179.02 238 2 177054769 . G A 3179.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-11.234;DP=238;DS;Dels=0.00;FS=1.721;HRun=0;HaplotypeScore=6.5013;MQ=58.92;MQ0=0;MQRankSum=1.167;QD=13.36;ReadPosRankSum=-0.564;VQSLOD=4.6877;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,127:238:99:3209,0,3226 2 178417142 178417142 C T exonic TTC30B nonsynonymous SNV TTC30B:NM_152517:exon1:c.G350A:p.R117H 0.89 0.83 0.91 0.97 0.87 0.89 0.8632 0.8360 0.9294 0.9782 0.8716 0.8396 0.8656 0.8647 0.85 0.85 0.85 0.87 0.8 rs11694988 COSM4133256 1(thyroid) . . . . . . . . . . . 0.014 0.531 D 0.944 0.512 P 0.416 0.432 B 0.000 0.497 D 0.001 0.456 P 2.08 0.576 M -1.21 0.787 T -2.55 0.551 D 0.23 0.308 -0.995 0.312 T 0.000 0.000 T . . . 4.552 0.610 24.4 0.999 0.975 0.717 0.349 D c 0.240 0.280 1.000 0.747 0.519 0.209 1 4.3 0.504 3.066 0.494 0.928 0.438 1.000 0.715 0.877 0.367 15.472 0.751 Tetratricopeptide-like helical domain ENSG00000237655.1|ENSG00000237655.1|ENSG00000237655.1|ENSG00000237655.1|ENSG00000237655.1 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Testis|Thyroid 0.8685 0.8389 0.9215 0.8236 0.9788 0.8707 0.8437 0.8594 0.8679 0.8596 0.8388 0.9141 0.8146 0.9735 0.8669 0.8548 0.8694 het 3085.22 201 2 178417142 . C T 3085.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.032;DP=201;DS;Dels=0.00;FS=3.203;HRun=0;HaplotypeScore=10.0483;MQ=58.84;MQ0=0;MQRankSum=-0.004;QD=15.35;ReadPosRankSum=0.770;VQSLOD=3.3450;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,104:201:99:3115,0,2264 2 178494173 178494173 - GGA exonic PDE11A nonframeshift insertion PDE11A:NM_001077196:exon17:c.1431_1432insTCC:p.S477_P478insS,PDE11A:NM_001077358:exon19:c.1689_1690insTCC:p.S563_P564insS,PDE11A:NM_016953:exon20:c.2763_2764insTCC:p.S921_P922insS,PDE11A:NM_001077197:exon21:c.2013_2014insTCC:p.S671_P672insS 0.59 0.2 0.79 0.7 0.74 0.7 0.6933 0.2903 0.8370 0.6932 0.8217 0.7303 0.6971 0.6449 0.0069 0.0059 0.0075 . . rs72535720 COSM5016735;COSM5016736 1(kidney);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7106 0.2865 0.8317 0.6633 0.6892 0.8197 0.7355 0.7073 0.6479 0.6282 0.3016 0.7900 0.6733 0.6599 0.8203 0.7524 0.7592 het 6481.87 247 2 178494173 . G GGGA 6481.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.516;DP=247;DS;FS=3.749;HRun=0;HaplotypeScore=826.2169;MQ=57.57;MQ0=0;MQRankSum=-1.466;QD=26.14;ReadPosRankSum=-0.280;set=variant2 GT:AD:DP:GQ:PL 0/1:141,103:247:99:6482,0,4579 2 178682603 178682603 T C exonic PDE11A synonymous SNV PDE11A:NM_001077196:exon5:c.A294G:p.A98A,PDE11A:NM_001077358:exon7:c.A552G:p.A184A,PDE11A:NM_016953:exon8:c.A1626G:p.A542A,PDE11A:NM_001077197:exon9:c.A876G:p.A292A 0.42 0.73 0.26 0.31 0.32 0.32 0.3339 0.6437 0.1918 0.3163 0.2239 0.3217 0.3570 0.3375 0.42 0.62 0.32 0.52 0.28 rs6720891 COSM3757786;COSM3757785 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3222 0.6505 0.2054 0.3801 0.3136 0.2319 0.3216 0.3335 0.3377 0.3937 0.6498 0.2596 0.3907 0.3327 0.2404 0.3011 0.3020 het 415.30 57 2 178682603 . T C 415.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.881;DP=57;Dels=0.00;FS=1.102;HRun=1;HaplotypeScore=0.0000;MQ=56.73;MQ0=0;MQRankSum=-1.683;QD=7.29;ReadPosRankSum=0.811;VQSLOD=2.2140;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,17:57:99:445,0,1060 2 178762824 178762824 T C exonic PDE11A synonymous SNV PDE11A:NM_001077358:exon3:c.A189G:p.E63E,PDE11A:NM_016953:exon4:c.A1263G:p.E421E,PDE11A:NM_001077197:exon5:c.A513G:p.E171E 0.06 0.0061 0.073 0.015 0.14 0.092 0.1168 0.0250 0.0490 0.0168 0.2340 0.1469 0.1222 0.1054 0.11 0.031 0.15 0.054 0.17 rs71423514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1161 0.0258 0.0464 0.0944 0.0171 0.2263 0.1485 0.1141 0.1020 0.1207 0.0248 0.0597 0.0861 0.0062 0.2213 0.1663 0.1711 het 1632.12 110 2 178762824 . T C 1632.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.958;DP=110;Dels=0.00;FS=2.468;HRun=0;HaplotypeScore=3.9779;MQ=59.08;MQ0=0;MQRankSum=0.093;QD=14.84;ReadPosRankSum=1.166;VQSLOD=5.4911;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,62:110:99:1662,0,1180 2 178936373 178936373 T G exonic PDE11A synonymous SNV PDE11A:NM_016953:exon1:c.A792C:p.T264T 0.89 0.79 0.91 1. 0.87 0.91 0.8740 0.8058 0.9449 0.9998 0.8060 0.8569 0.8877 0.8972 0.83 0.81 0.85 0.72 0.79 rs1435573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8782 0.8039 0.9462 0.9054 0.9998 0.8105 0.8539 0.8863 0.9001 0.8396 0.8096 0.9284 0.9172 1 0.8189 0.8383 0.8340 het 2001.32 150 2 178936373 . T G 2001.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.256;DP=150;DS;Dels=0.00;FS=3.489;HRun=2;HaplotypeScore=2.6132;MQ=59.44;MQ0=0;MQRankSum=-1.009;QD=13.34;ReadPosRankSum=1.009;VQSLOD=5.9255;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,68:150:99:2031,0,2212 2 178936614 178936614 C T exonic PDE11A nonsynonymous SNV PDE11A:NM_016953:exon1:c.G551A:p.R184Q 0.99 0.97 0.99 1. 1. 1. 0.9980 0.9799 0.9984 0.9993 1 0.9999 1 1 0.99 0.98 1. 0.97 1. rs6433711 COSM4133260 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.418 N 0.998 0.810 P -1.67 0.004 N -0.23 0.667 T 0.9 0.016 N 0.085 0.112 -0.939 0.428 T 0.000 0.000 T . . . 2.286 0.336 18.08 0.472 0.038 0.196 0.205 N c -0.807 -0.483 1.000 0.747 0.603 0.348 0 5.28 0.740 4.673 0.611 0.087 0.193 1.000 0.715 1.000 0.888 10.446 0.435 . . . 0.9984 0.9792 0.9986 1 0.9994 1 0.9999 0.9995 0.9998 0.9935 0.9777 0.9976 1 1 1 0.9999 0.9969 hom 6722.39 200 2 178936614 . C T 6722.39 Mask AC=2;AF=1.00;AN=2;DP=200;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5340;MQ=59.40;MQ0=0;QD=33.61;VQSLOD=5.8839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6722,524,0 2 179203797 179203797 G A exonic OSBPL6 synonymous SNV OSBPL6:NM_145739:exon8:c.G807A:p.S269S,OSBPL6:NM_001201480:exon10:c.G870A:p.S290S,OSBPL6:NM_001201481:exon10:c.G870A:p.S290S,OSBPL6:NM_001201482:exon10:c.G870A:p.S290S,OSBPL6:NM_032523:exon10:c.G870A:p.S290S 0.92 0.87 0.94 0.97 0.9 0.95 0.9283 0.8870 0.9503 0.9681 0.9457 0.9180 0.9251 0.9529 0.91 0.89 0.91 0.88 0.88 rs1434087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9285 0.8902 0.9447 0.9087 0.9679 0.9455 0.9152 0.9195 0.9520 0.9199 0.8849 0.9391 0.9040 0.9729 0.9470 0.9262 0.9399 hom 1214.44 40 2 179203797 . G A 1214.44 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.36;VQSLOD=13.7971;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:93.30:1247,93,0 2 179400130 179400130 G A exonic TTN nonsynonymous SNV TTN:NM_003319:exon186:c.C74017T:p.R24673C,TTN:NM_133432:exon187:c.C74392T:p.R24798C,TTN:NM_133437:exon187:c.C74593T:p.R24865C,TTN:NM_133378:exon307:c.C93508T:p.R31170C,TTN:NM_001256850:exon308:c.C96289T:p.R32097C,TTN:NM_001267550:exon358:c.C101212T:p.R33738C 0.0028 . 0.011 . 0.005 0.001 0.0056 0.0014 0.0057 0 0.0054 0.0078 0.0078 0.0022 0.0074 0.0023 0.0098 . . rs56273463 COSM6026451;COSM6026447;COSM6026448;COSM6026449;COSM6026450 2(large_intestine) other|Likely benign|Likely benign|Uncertain significance|Uncertain significance|Uncertain significance|Uncertain significance|Uncertain significance|Uncertain significance|Benign|Benign not_specified|not_provided|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Dilated_Cardiomyopathy\x2c_Dominant|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Limb-girdle_muscular_dystrophy\x2c_type_2J RCV000040902.8|RCV000118798.5|RCV000251517.1|RCV000279616.1|RCV000299708.1|RCV000334610.1|RCV000349947.1|RCV000404458.1|RCV000407040.1|RCV000466684.1|RCV000466684.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM|MedGen:OMIM:Orphanet CN169374|CN221809|CN230736|HP:0001639:C0007194:ORPHA217569|C2673677:611705:ORPHA289377|CN239352|CN239310|C1838244:600334:ORPHA609|C1863599:603689:ORPHA178464|C1858763:604145|C1837342:608807:ORPHA140922 . . . . . . 0.035 0.437 D 1.0 0.899 D 0.998 0.875 D . . . 1 0.810 D 2.25 0.640 M 0.35 0.580 T -5.78 0.932 D 0.448 0.549 -0.405 0.719 T 0.287 0.659 T . . . 4.268 0.572 23.9 0.969 0.310 0.986 0.849 D c 0.844 0.824 1.0 0.983 0.476 0.093 0 5.52 0.821 7.967 0.874 1.048 0.713 1.000 0.715 0.996 0.625 19.811 0.965 Fibronectin type III|Immunoglobulin-like fold . . 0.0056 0.0012 0.0040 0.0045 0 0.0044 0.0085 0.0084 0.0025 0.0055 0.0017 0.0072 0.0033 0 0.0046 0.0084 0.0051 het 1594.32 121 2 179400130 . G A 1594.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.884;DP=121;Dels=0.00;FS=7.243;HRun=0;HaplotypeScore=1.9980;MQ=58.92;MQ0=0;MQRankSum=-1.057;QD=13.18;ReadPosRankSum=-0.901;VQSLOD=3.9213;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,57:121:99:1624,0,1789 2 179444768 179444768 C G exonic TTN nonsynonymous SNV TTN:NM_003319:exon146:c.G40051C:p.A13351P,TTN:NM_133432:exon147:c.G40426C:p.A13476P,TTN:NM_133437:exon147:c.G40627C:p.A13543P,TTN:NM_133378:exon267:c.G59542C:p.A19848P,TTN:NM_001256850:exon268:c.G62323C:p.A20775P,TTN:NM_001267550:exon318:c.G67246C:p.A22416P 0.99 0.98 1. 1. 1. 1. 0.9986 0.9862 0.9988 1 1 0.9997 1 1 1. 0.99 1. 1. . rs4145333 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Distal_myopathy_Markesbery-Griggs_type|Dilated_Cardiomyopathy\x2c_Dominant|Hypertrophic_cardiomyopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Hereditary_myopathy_with_early_respiratory_failure|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy RCV000040520.7|RCV000248869.1|RCV000282280.1|RCV000286185.1|RCV000317492.1|RCV000339521.1|RCV000374422.1|RCV000407028.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|CN230736|C1838244:600334:ORPHA609|CN239310|HP:0001639:C0007194:ORPHA217569|CN239352|C1863599:603689:ORPHA178464|C2673677:611705:ORPHA289377 . . . . . . 0.371 0.139 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.145 0.044 N 0.46 0.563 T -0.07 0.080 N 0.068 0.067 -1.003 0.291 T 0.000 0.000 T . . . -0.011 0.093 2.486 0.804 0.127 0.111 0.163 N c -1.308 -1.191 0.077 0.158 0.554 0.246 0 1.82 0.241 0.887 0.277 -0.642 0.041 0.547 0.271 0.829 0.346 0.542 0.006 Fibronectin type III|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain . . 0.9987 0.9849 0.9988 1 1 1 0.9997 0.9993 1 0.9969 0.9895 0.9988 1 1 1 0.9999 0.9990 hom 5042.27 156 2 179444768 . C G 5042.27 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=58.44;MQ0=0;QD=32.32;VQSLOD=9.1559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:5042,388,0 2 179558366 179558366 T C exonic TTN nonsynonymous SNV TTN:NM_133378:exon116:c.A27832G:p.I9278V,TTN:NM_001256850:exon117:c.A30613G:p.I10205V,TTN:NM_001267550:exon119:c.A31564G:p.I10522V 0.48 0.59 0.42 0.57 0.25 0.52 0.3536 0.5674 0.4494 0.5761 0.2636 0.2457 0.3235 0.5004 0.33 0.56 0.23 0.49 . rs2042995 COSM4418695;COSM4418696 2(haematopoietic_and_lymphoid_tissue) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hereditary_myopathy_with_early_respiratory_failure|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type RCV000040122.6|RCV000252593.1|RCV000286778.1|RCV000289856.1|RCV000341794.1|RCV000344790.1|RCV000380675.1|RCV000397932.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet CN169374|CN230736|CN239310|C2673677:611705:ORPHA289377|C1863599:603689:ORPHA178464|CN239352|HP:0001639:C0007194:ORPHA217569|C1838244:600334:ORPHA609 . . . . . . 1.0 0.010 T . . . . . . . . . 1.000 0.588 P . . . 0.18 0.605 T 0.28 0.042 N 0.023 0.176 -1.002 0.292 T 0.000 0.000 T . . . 1.533 0.246 13.49 0.713 0.093 0.108 0.160 N c -0.181 0.002 0.197 0.181 0.487 0.133 0 5.85 0.936 1.455 0.346 0.066 0.173 0.989 0.365 0.983 0.502 9.311 0.369 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000079150.13|ENSG00000079150.13|ENSG00000079150.13|ENSG00000271011.1 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Thyroid 0.3362 0.5576 0.4319 0.2672 0.5716 0.2530 0.2271 0.3001 0.4793 0.3459 0.5499 0.4233 0.2417 0.5661 0.2424 0.2289 0.2888 het 164.24 26 2 179558366 . T C 164.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.617;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.07;MQ0=0;MQRankSum=0.593;QD=6.32;ReadPosRankSum=0.916;VQSLOD=5.2722;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,9:26:99:194,0,379 2 179585266 179585266 C T exonic TTN synonymous SNV TTN:NM_133378:exon77:c.G19491A:p.Q6497Q,TTN:NM_001256850:exon78:c.G22272A:p.Q7424Q,TTN:NM_001267550:exon80:c.G23223A:p.Q7741Q 0.98 0.93 0.99 1. 1. 1. 0.9950 0.9435 0.9973 1 1 0.9997 0.9989 0.9999 0.98 0.94 1. 0.99 . rs2562831 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant|Hereditary_myopathy_with_early_respiratory_failure|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000039984.9|RCV000254037.1|RCV000271518.1|RCV000296181.1|RCV000325238.1|RCV000331319.1|RCV000365884.1|RCV000385735.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen CN169374|CN230736|CN239310|C1863599:603689:ORPHA178464|C2673677:611705:ORPHA289377|HP:0001639:C0007194:ORPHA217569|C1838244:600334:ORPHA609|CN239352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9958 0.9430 0.9969 1 1 1 0.9996 0.9982 0.9999 0.9841 0.9447 0.9940 1 1 1 0.9999 0.9980 hom 1014.57 35 2 179585266 . C T 1014.57 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.99;VQSLOD=13.9924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:81.25:1048,81,0 2 179600563 179600563 G A exonic TTN synonymous SNV TTN:NM_133378:exon47:c.C10878T:p.S3626S,TTN:NM_001256850:exon48:c.C13659T:p.S4553S,TTN:NM_001267550:exon50:c.C14610T:p.S4870S 0.98 0.93 0.99 1. 1. 1. 0.9949 0.9424 0.9974 1 1 0.9997 0.9989 0.9999 0.98 0.94 1. 0.99 . rs2742348 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Distal_myopathy_Markesbery-Griggs_type|Dilated_Cardiomyopathy\x2c_Dominant|Hereditary_myopathy_with_early_respiratory_failure|Hypertrophic_cardiomyopathy|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy RCV000039860.9|RCV000245943.1|RCV000266820.1|RCV000302107.1|RCV000306880.1|RCV000345343.1|RCV000359096.1|RCV000397599.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet CN169374|CN230736|CN239352|C1838244:600334:ORPHA609|CN239310|C1863599:603689:ORPHA178464|HP:0001639:C0007194:ORPHA217569|C2673677:611705:ORPHA289377 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9957 0.9416 0.9968 1 1 1 0.9996 0.9982 0.9999 0.9840 0.9445 0.9928 1 1 1 0.9999 0.9980 hom 2128.36 68 2 179600563 . G A 2128.36 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;QD=31.30;VQSLOD=9.5934;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2161,172,0 2 179614952 179614952 A G exonic TTN synonymous SNV TTN:NM_133379:exon46:c.T12175C:p.L4059L 0.97 0.91 1. 1. 1. 1. 0.9926 0.9200 0.9970 1 1 0.9997 0.9912 0.9998 0.97 0.92 1. 0.95 1. rs10803917 . . Benign not_specified RCV000041012.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9945 0.9208 0.9971 1 1 1 0.9998 0.9965 0.9998 0.9759 0.9159 0.9940 1 1 1 0.9999 0.9969 hom 2811.94 85 2 179614952 . A G 2811.94 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.08;MQ0=0;QD=33.08;VQSLOD=8.7217;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2845,226,0 2 179615887 179615887 T C exonic TTN nonsynonymous SNV TTN:NM_133379:exon46:c.A11240G:p.D3747G 0.73 0.57 0.64 0.78 0.91 0.78 0.8271 0.6001 0.5361 0.7529 0.8854 0.9251 0.8473 0.7889 0.82 0.6 0.93 0.72 0.88 rs922984 . . Benign not_specified RCV000041005.4 MedGen CN169374 . . . . . . 0.197 0.206 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.195 P . . . 0.36 0.579 T -1.4 0.346 N 0.012 0.001 -0.941 0.424 T 0.000 0.000 T . . . 0.654 0.156 8.526 0.992 0.561 0.145 0.182 N c -0.652 -0.507 0.990 0.320 0.487 0.133 0 4.54 0.551 1.572 0.358 1.061 0.807 0.011 0.184 0.091 0.185 5.885 0.180 . . . 0.8208 0.6002 0.5556 0.8914 0.7553 0.8909 0.9291 0.8518 0.7887 0.8154 0.6059 0.6139 0.9007 0.7732 0.8874 0.9301 0.8822 hom 1623.17 53 2 179615887 . T C 1623.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.657;DP=53;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8824;MQ=59.13;MQ0=0;MQRankSum=-0.443;QD=30.63;ReadPosRankSum=-0.537;VQSLOD=8.5671;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,51:53:70.96:1656,71,0 2 179615931 179615931 C G exonic TTN nonsynonymous SNV TTN:NM_133379:exon46:c.G11196C:p.L3732F 0.97 0.91 1. 1. 1. 1. 0.9926 0.9195 0.9971 1 1 0.9997 0.9912 0.9998 0.97 0.92 1. 0.95 0.98 rs922985 COSM5021341 1(bone) Benign not_specified RCV000041004.4 MedGen CN169374 . . . . . . 0.103 0.301 T 0.003 0.102 B 0.004 0.093 B . . . 1 0.201 P . . . 0.25 0.595 T -0.12 0.088 N 0.008 0.000 -0.973 0.365 T 0.000 0.000 T . . . 0.163 0.109 4.287 0.961 0.280 0.089 0.146 N c -0.628 -0.536 0.969 0.291 0.487 0.133 0 3.9 0.441 -0.174 0.097 0.935 0.490 0.000 0.063 0.322 0.241 5.488 0.159 . . . 0.9945 0.9206 0.9972 1 1 1 0.9998 0.9965 0.9998 0.9762 0.9169 0.9940 1 1 1 0.9999 0.9969 hom 1575.66 48 2 179615931 . C G 1575.66 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=32.83;VQSLOD=9.3492;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1609,126,0 2 179615994 179615994 T C exonic TTN synonymous SNV TTN:NM_133379:exon46:c.A11133G:p.T3711T 0.97 0.91 1. 1. 1. 1. 0.9926 0.9200 0.9970 1 1 0.9997 0.9912 0.9997 0.97 0.92 1. 0.95 1. rs922986 . . Benign not_specified RCV000041002.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9208 0.9971 1 1 1 0.9998 0.9965 0.9997 0.9760 0.9163 0.9940 1 1 1 0.9998 0.9969 hom 2625.29 91 2 179615994 . T C 2625.29 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=28.85;VQSLOD=8.2681;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2658,208,0 2 179620951 179620951 C T exonic TTN nonsynonymous SNV TTN:NM_133437:exon44:c.G10739A:p.G3580D,TTN:NM_001267550:exon46:c.G11252A:p.G3751D 0.8 0.83 0.67 0.78 0.91 0.78 0.8508 0.8372 0.5495 0.7527 0.8849 0.9274 0.8652 0.7953 0.9 0.84 0.93 0.81 . rs7585334 . . Benign not_specified RCV000041121.4 MedGen CN169374 . . . . . . 1.0 0.010 T 0.005 0.119 B 0.01 0.139 B . . . 0.551 0.810 P . . . 1.09 0.392 T -0.84 0.229 N 0.094 0.112 -1.021 0.234 T 0.000 0.000 T . . . 3.252 0.450 22.8 0.907 0.193 0.970 0.720 D c 0.345 0.350 1.000 0.747 0.487 0.133 0 4.2 0.486 3.781 0.549 0.935 0.490 1.000 0.715 0.525 0.275 13.065 0.583 Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.8387 0.8398 0.5677 0.9142 0.7550 0.8901 0.9303 0.8625 0.7873 0.8805 0.8313 0.6319 0.9205 0.7716 0.8864 0.9314 0.8959 hom 5419.42 175 2 179620951 . C T 5419.42 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3001;MQ=59.10;MQ0=0;QD=30.97;VQSLOD=9.3959;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5419,430,0 2 179621477 179621477 C T exonic TTN nonsynonymous SNV TTN:NM_133437:exon44:c.G10213A:p.A3405T,TTN:NM_001267550:exon46:c.G10726A:p.A3576T 1. 1. 1. 1. 1. 1. 0.9997 0.9962 0.9999 1 1 1 1 1 1. 1. 1. 1. . rs6433728 . . Likely benign|Likely benign|Likely benign\x2cother not_specified|Dilated_cardiomyopathy_1G|Limb-girdle_muscular_dystrophy\x2c_type_2J\x2cnot_specified RCV000155422.1|RCV000467517.1|RCV000467517.1\x2cRCV000152471.4 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet\x2cMedGen CN169374|C1858763:604145|C1837342:608807:ORPHA140922\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9963 0.9999 1 1 1 1.0000 1 1 0.9992 0.9973 1 1 1 1 1 1 hom 1941 64 2 179621477 . C T 1941 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=30.33;VQSLOD=8.4218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1974,156,0 2 179623758 179623758 C T exonic TTN nonsynonymous SNV TTN:NM_003319:exon43:c.G10118A:p.S3373N,TTN:NM_133432:exon43:c.G10118A:p.S3373N,TTN:NM_133437:exon43:c.G10118A:p.S3373N,TTN:NM_001256850:exon44:c.G10256A:p.S3419N,TTN:NM_001267550:exon44:c.G10256A:p.S3419N,TTN:NM_133378:exon44:c.G10256A:p.S3419N,TTN:NM_133379:exon44:c.G10256A:p.S3419N 0.81 0.84 0.67 0.78 0.91 0.78 0.8512 0.8450 0.5501 0.7636 0.8853 0.9274 0.8656 0.7891 0.9 0.84 0.93 0.83 0.89 rs2291310 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000039852.10|RCV000251067.1|RCV000275658.1|RCV000301488.1|RCV000333056.1|RCV000354685.1|RCV000367878.1|RCV000400937.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen CN169374|CN230736|C1838244:600334:ORPHA609|C1863599:603689:ORPHA178464|C2673677:611705:ORPHA289377|HP:0001639:C0007194:ORPHA217569|CN239310|CN239352 . . . . . . 0.634 0.069 T 0.0 0.102 B 0.001 0.080 B . . . 1 0.090 P . . . -0.3 0.679 T 0.45 0.039 N 0.014 0.024 -0.979 0.352 T 0.000 0.000 T . . . 1.814 0.279 15.07 0.778 0.116 0.085 0.142 N c -0.889 -0.929 0.999 0.384 0.554 0.246 0 -3.23 0.048 0.424 0.209 -0.489 0.052 0.049 0.212 0.993 0.574 7.485 0.264 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.8412 0.8492 0.5692 0.9141 0.7668 0.8910 0.9303 0.8640 0.7893 0.8838 0.8408 0.6316 0.9205 0.7832 0.8872 0.9313 0.8969 hom 4009.37 136 2 179623758 . C T 4009.37 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=59.20;MQ0=0;QD=29.48;VQSLOD=8.8249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4009,307,0 2 179629363 179629363 T C exonic TTN synonymous SNV TTN:NM_003319:exon41:c.A9741G:p.E3247E,TTN:NM_133432:exon41:c.A9741G:p.E3247E,TTN:NM_133437:exon41:c.A9741G:p.E3247E,TTN:NM_001256850:exon42:c.A9879G:p.E3293E,TTN:NM_001267550:exon42:c.A9879G:p.E3293E,TTN:NM_133378:exon42:c.A9879G:p.E3293E,TTN:NM_133379:exon42:c.A9879G:p.E3293E 0.97 0.9 0.99 1. 1. 1. 0.9921 0.9141 0.9969 1 1 0.9997 0.9923 0.9998 0.97 0.91 1. 0.95 1. rs4894043 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000040976.9|RCV000248023.1|RCV000259982.1|RCV000265831.1|RCV000300096.1|RCV000305792.1|RCV000354969.1|RCV000360490.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen CN169374|CN230736|CN239310|C2673677:611705:ORPHA289377|HP:0001639:C0007194:ORPHA217569|C1838244:600334:ORPHA609|C1863599:603689:ORPHA178464|CN239352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9941 0.9147 0.9969 1 1 1 0.9998 0.9967 0.9998 0.9744 0.9105 0.9940 1 1 1 0.9999 0.9969 hom 8161.61 247 2 179629363 . T C 8161.61 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.562;DP=247;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8411;MQ=58.70;MQ0=0;MQRankSum=1.605;QD=33.04;ReadPosRankSum=1.478;VQSLOD=3.7074;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,245:247:99:8102,617,0 2 179629461 179629461 C T exonic TTN nonsynonymous SNV TTN:NM_003319:exon41:c.G9643A:p.V3215M,TTN:NM_133432:exon41:c.G9643A:p.V3215M,TTN:NM_133437:exon41:c.G9643A:p.V3215M,TTN:NM_001256850:exon42:c.G9781A:p.V3261M,TTN:NM_001267550:exon42:c.G9781A:p.V3261M,TTN:NM_133378:exon42:c.G9781A:p.V3261M,TTN:NM_133379:exon42:c.G9781A:p.V3261M 0.8 0.83 0.67 0.78 0.91 0.78 0.8500 0.8310 0.5504 0.7641 0.8854 0.9273 0.8656 0.7890 0.9 0.83 0.93 0.83 0.89 rs2291311 COSM5766899;COSM5766898;COSM5766900;COSM5766897;COSM5766896 1(large_intestine) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hereditary_myopathy_with_early_respiratory_failure|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant|Distal_myopathy_Markesbery-Griggs_type RCV000040961.10|RCV000251159.1|RCV000272076.1|RCV000296790.1|RCV000320840.1|RCV000327097.1|RCV000381817.1|RCV000384754.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen:OMIM:Orphanet CN169374|CN230736|CN239352|C2673677:611705:ORPHA289377|C1863599:603689:ORPHA178464|HP:0001639:C0007194:ORPHA217569|CN239310|C1838244:600334:ORPHA609 . . . . . . 0.158 0.298 T 0.988 0.764 D 0.721 0.601 P . . . 1.000 0.218 P . . . -0.25 0.670 T -1.43 0.352 N 0.089 0.395 -1.065 0.106 T 0.000 0.000 T . . . 2.855 0.404 21.6 0.893 0.181 0.735 0.357 D c 0.163 0.153 1.000 0.500 0.554 0.246 0 4.82 0.615 1.488 0.349 0.068 0.175 0.787 0.293 0.993 0.574 11.614 0.502 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.8401 0.8333 0.5691 0.9144 0.7668 0.8909 0.9303 0.8638 0.7892 0.8800 0.8272 0.6331 0.9205 0.7819 0.8875 0.9314 0.8961 hom 5817.04 185 2 179629461 . C T 5817.04 Mask AC=2;AF=1.00;AN=2;DP=185;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.67;MQ0=0;QD=31.44;VQSLOD=9.0406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5816,463,0 2 179644035 179644035 G A exonic TTN nonsynonymous SNV TTN:NM_003319:exon22:c.C3746T:p.S1249L,TTN:NM_133432:exon22:c.C3746T:p.S1249L,TTN:NM_133437:exon22:c.C3746T:p.S1249L,TTN:NM_001256850:exon23:c.C3884T:p.S1295L,TTN:NM_001267550:exon23:c.C3884T:p.S1295L,TTN:NM_133378:exon23:c.C3884T:p.S1295L,TTN:NM_133379:exon23:c.C3884T:p.S1295L 0.92 0.85 0.95 0.88 0.99 0.96 0.9606 0.8686 0.9322 0.8766 0.9809 0.9890 0.9636 0.9583 0.95 0.87 0.99 0.88 0.93 rs1552280 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Distal_myopathy_Markesbery-Griggs_type|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Dilated_Cardiomyopathy\x2c_Dominant|Hereditary_myopathy_with_early_respiratory_failure RCV000040271.10|RCV000241712.1|RCV000264528.1|RCV000268224.1|RCV000299899.1|RCV000303354.1|RCV000357032.1|RCV000360628.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen|MedGen:OMIM:Orphanet CN169374|CN230736|C1838244:600334:ORPHA609|C2673677:611705:ORPHA289377|HP:0001639:C0007194:ORPHA217569|CN239352|CN239310|C1863599:603689:ORPHA178464 . . . . . . 0.329 0.132 T 0.0 0.026 B 0.0 0.013 B . . . 0.999 0.221 P . . . -0.27 0.674 T 2.21 0.003 N 0.05 0.092 -0.961 0.391 T 0.000 0.000 T . . . 2.581 0.371 19.99 0.969 0.311 0.732 0.355 D c -0.312 -0.104 0.932 0.270 0.516 0.203 0 5.72 0.893 6.294 0.725 0.168 0.246 1.000 0.715 0.977 0.480 11.842 0.515 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9623 0.8703 0.9394 0.9920 0.8800 0.9778 0.9898 0.9721 0.9573 0.9463 0.8671 0.9533 1 0.8747 0.9794 0.9889 0.9755 hom 1976.82 60 2 179644035 . G A 1976.82 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;QD=32.95;VQSLOD=9.8003;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2010,159,0 2 179644855 179644855 T C exonic TTN nonsynonymous SNV TTN:NM_003319:exon21:c.A3463G:p.K1155E,TTN:NM_133432:exon21:c.A3463G:p.K1155E,TTN:NM_133437:exon21:c.A3463G:p.K1155E,TTN:NM_001256850:exon22:c.A3601G:p.K1201E,TTN:NM_001267550:exon22:c.A3601G:p.K1201E,TTN:NM_133378:exon22:c.A3601G:p.K1201E,TTN:NM_133379:exon22:c.A3601G:p.K1201E 0.5 0.41 0.51 0.22 0.86 0.54 0.6944 0.4633 0.3726 0.1991 0.8174 0.8655 0.7561 0.5786 0.73 0.47 0.87 0.53 0.84 rs10497520 COSM4001423;COSM4001424;COSM4001425;COSM4001422;COSM4001421 1(breast);3(haematopoietic_and_lymphoid_tissue) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Hereditary_myopathy_with_early_respiratory_failure|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Distal_myopathy_Markesbery-Griggs_type RCV000040243.9|RCV000246507.1|RCV000270311.1|RCV000305380.1|RCV000309003.1|RCV000340634.1|RCV000362447.1|RCV000391742.1 MedGen|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet CN169374|CN230736|C1863599:603689:ORPHA178464|HP:0001639:C0007194:ORPHA217569|CN239310|C2673677:611705:ORPHA289377|CN239352|C1838244:600334:ORPHA609 . . . . . . 0.43 0.291 T 0.044 0.454 B 0.036 0.444 B . . . 0.796 0.291 P . . . 0.0 0.629 T -2.42 0.654 N 0.266 0.616 -1.063 0.110 T 0.000 0.000 T . . . 2.524 0.365 19.62 0.973 0.327 0.978 0.772 D c 0.034 0.208 0.836 0.248 0.516 0.203 0 4.56 0.555 4.100 0.573 0.964 0.580 1.000 0.715 1.000 0.888 12.647 0.559 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000079150.13 Cells_Transformed_fibroblasts 0.6885 0.4591 0.4009 0.8474 0.2017 0.8198 0.8685 0.7572 0.5793 0.7025 0.4674 0.4832 0.8808 0.2144 0.8291 0.8651 0.7922 hom 3072.19 100 2 179644855 . T C 3072.19 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8975;MQ=59.02;MQ0=0;QD=30.72;VQSLOD=8.9150;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3105,238,0 2 179650408 179650408 G A exonic TTN nonsynonymous SNV TTN:NM_003319:exon14:c.C2294T:p.T765I,TTN:NM_133432:exon14:c.C2294T:p.T765I,TTN:NM_133437:exon14:c.C2294T:p.T765I,TTN:NM_001256850:exon15:c.C2432T:p.T811I,TTN:NM_001267550:exon15:c.C2432T:p.T811I,TTN:NM_133378:exon15:c.C2432T:p.T811I,TTN:NM_133379:exon15:c.C2432T:p.T811I 0.1 0.086 0.15 0.001 0.22 0.069 0.1691 0.1061 0.1090 0.0001 0.1225 0.2383 0.1861 0.0771 0.19 0.1 0.23 0.065 0.15 rs35813871 COSM3757820;COSM3757819;COSM3757821;COSM3757823;COSM3757824;COSM3757822 1(large_intestine) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Distal_myopathy_Markesbery-Griggs_type|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Dilated_Cardiomyopathy\x2c_Dominant|Hypertrophic_cardiomyopathy|Hereditary_myopathy_with_early_respiratory_failure|Myopathy\x2c_early-onset\x2c_with_fatal_cardiomyopathy RCV000040075.6|RCV000250179.1|RCV000277774.1|RCV000293180.1|RCV000333096.1|RCV000348146.1|RCV000372528.1|RCV000387563.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|CN230736|C1838244:600334:ORPHA609|CN239352|CN239310|HP:0001639:C0007194:ORPHA217569|C1863599:603689:ORPHA178464|C2673677:611705:ORPHA289377 . . . . . . 0.0 0.912 D 0.995 0.764 D 0.593 0.672 P . . . 0.730 0.372 P . . . -0.08 0.639 T -3.19 0.717 D 0.197 0.656 -1.116 0.026 T 0.000 0.001 T . . . 2.681 0.383 20.7 0.939 0.233 0.948 0.621 D c 0.580 0.634 1.000 0.462 0.516 0.203 0 5.51 0.817 5.937 0.697 1.048 0.713 1.000 0.715 0.998 0.697 19.784 0.964 . . . 0.1695 0.1046 0.1168 0.3282 0.0004 0.1335 0.2369 0.2057 0.0789 0.1597 0.1050 0.1587 0.3675 0.0006 0.1328 0.2096 0.1802 hom 3390.75 105 2 179650408 . G A 3390.75 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.66;MQ0=0;QD=32.29;VQSLOD=9.0795;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3390,280,0 2 179702268 179702268 A G exonic CCDC141 synonymous SNV CCDC141:NM_173648:exon23:c.T3678C:p.P1226P 0.99 0.96 1. 1. 1. 1. 0.9970 0.9673 0.9990 1 1 0.9999 0.9978 1 0.99 0.97 1. 0.97 1. rs1032283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9976 0.9661 0.9983 1 1 1 0.9999 0.9989 0.9999 0.9904 0.9664 0.9988 1 1 1 1 0.9980 hom 3116.39 88 2 179702268 . A G 3116.39 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=35.41;VQSLOD=8.9753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:3149,247,0 2 180047908 180047908 T C exonic SESTD1 synonymous SNV SESTD1:NM_178123:exon3:c.A63G:p.K21K 0.86 0.84 0.83 0.91 0.79 0.93 0.8187 0.8341 0.8482 0.9138 0.8058 0.7755 0.8175 0.9179 0.79 0.84 0.77 0.79 0.69 rs6757681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8204 0.8351 0.8415 0.7901 0.9152 0.8039 0.7762 0.8067 0.9222 0.8137 0.8317 0.8357 0.7715 0.9194 0.8039 0.7937 0.8133 hom 1459.86 45 2 180047908 . T C 1459.86 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.12;MQ0=0;QD=32.44;VQSLOD=8.3684;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1493,117,0 2 180308028 180308028 C T exonic ZNF385B synonymous SNV ZNF385B:NM_001113397:exon8:c.G1137A:p.G379G,ZNF385B:NM_001113398:exon8:c.G1059A:p.G353G,ZNF385B:NM_001282725:exon10:c.G1059A:p.G353G,ZNF385B:NM_152520:exon10:c.G1365A:p.G455G 0.17 0.26 0.1 0.15 0.14 0.13 0.1407 0.2344 0.072 0.1241 0.1084 0.1465 0.1309 0.1294 0.17 0.22 0.14 0.21 0.13 rs2367796 COSM3724286;COSM3724285 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1342 0.2260 0.0755 0.1363 0.1277 0.1061 0.1472 0.1369 0.1282 0.1561 0.2206 0.0979 0.1225 0.1451 0.1111 0.1360 0.1283 het 720.66 60 2 180308028 . C T 720.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.935;DP=60;Dels=0.00;FS=9.069;HRun=0;HaplotypeScore=0.8941;MQ=58.60;MQ0=0;MQRankSum=-0.444;QD=12.01;ReadPosRankSum=-1.479;VQSLOD=4.5458;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,29:60:99:751,0,859 2 180810180 180810180 C T exonic CWC22 synonymous SNV CWC22:NM_020943:exon20:c.G2403A:p.A801A 0.61 0.61 0.42 0.53 0.71 0.7 0.6478 0.6158 0.3394 0.5456 0.6891 0.6985 0.6793 0.7136 0.68 0.62 0.7 0.71 . rs6433817 COSM4154711 1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6381 0.6123 0.3564 0.7116 0.5485 0.6925 0.7001 0.6560 0.7177 0.6548 0.6140 0.4332 0.7285 0.5361 0.6932 0.6929 0.6619 hom 6933.87 217 2 180810180 . C T 6933.87 Mask AC=2;AF=1.00;AN=2;DP=217;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.41;MQ0=0;QD=31.95;VQSLOD=9.6851;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6933,542,0 2 180810264 180810264 A T exonic CWC22 nonsynonymous SNV CWC22:NM_020943:exon20:c.T2319A:p.S773R 0.93 0.95 0.9 0.99 0.9 0.9 0.8982 0.9396 0.8866 0.9980 0.9221 0.8778 0.9020 0.9022 0.9 0.94 0.88 0.98 . rs6433818 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1.000 0.090 P -2.36 0.001 N 3.65 0.043 T 0.62 0.024 N 0.055 0.037 -1.030 0.206 T 0.000 0.000 T . . . -0.986 0.032 0.017 0.063 0.000 0.039 0.092 N c -1.410 -1.198 0.203 0.181 0.719 0.830 0 -0.613 0.110 0.466 0.216 -0.751 0.034 0.999 0.424 0.180 0.213 3.068 0.058 . . . 0.8983 0.9355 0.8859 0.9029 0.9981 0.9272 0.8743 0.8947 0.9027 0.9073 0.9385 0.8854 0.9106 0.9975 0.9243 0.8773 0.8959 hom 6755.98 223 2 180810264 . A T 6755.98 Mask AC=2;AF=1.00;AN=2;DP=223;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7706;MQ=58.95;MQ0=0;QD=30.30;VQSLOD=8.3975;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:6755,530,0 2 182374534 182374534 A G exonic ITGA4 synonymous SNV ITGA4:NM_000885:exon16:c.A1845G:p.T615T 0.66 0.66 0.63 0.63 0.53 0.85 0.6187 0.6466 0.6063 0.6434 0.4546 0.5752 0.6286 0.8379 0.6 0.65 0.58 0.6 0.42 rs1143674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6105 0.6462 0.6003 0.6027 0.6406 0.4576 0.5762 0.6023 0.8386 0.5870 0.6571 0.6089 0.6258 0.6475 0.4698 0.5660 0.5716 hom 1087.73 38 2 182374534 . A G 1087.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.456;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.39;MQ0=0;MQRankSum=-1.368;QD=28.62;ReadPosRankSum=0.547;VQSLOD=7.1066;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,37:38:58.03:1121,58,0 2 182395345 182395345 G A exonic ITGA4 nonsynonymous SNV ITGA4:NM_000885:exon24:c.G2633A:p.R878Q 0.79 0.75 0.8 0.84 0.67 0.9 0.7367 0.7467 0.8144 0.8483 0.6880 0.6756 0.75 0.8844 0.7 0.75 0.68 0.78 0.7 rs1143676 . . . . . . . . . . . . . 0.378 0.112 T 0.063 0.219 B 0.041 0.226 B 0.486 0.050 N 1 0.090 P 0.41 0.124 N 0.93 0.441 T -0.02 0.073 N 0.077 0.068 -1.025 0.220 T 0.000 0.000 T . . . -0.179 0.078 1.213 0.838 0.144 0.002 0.013 N c -1.893 -2.008 1.000 0.747 0.707 0.730 0 -10.9 0.002 -3.932 0.004 -0.267 0.087 0.000 0.063 0.011 0.114 1.435 0.022 Integrin alpha-2|Integrin domain . . 0.7382 0.7549 0.8066 0.6646 0.8477 0.6840 0.6758 0.7291 0.8843 0.7128 0.7490 0.8010 0.6887 0.8617 0.6907 0.6755 0.7285 hom 7397.09 235 2 182395345 . G A 7397.09 Mask AC=2;AF=1.00;AN=2;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5156;MQ=59.42;MQ0=0;QD=31.48;VQSLOD=6.7249;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,235:235:99:7396,566,0 2 182399097 182399097 T C exonic ITGA4 synonymous SNV ITGA4:NM_000885:exon26:c.T2883C:p.H961H 0.66 0.65 0.63 0.62 0.55 0.84 0.6263 0.6379 0.6173 0.6462 0.4947 0.5834 0.6355 0.8374 0.6 0.65 0.59 0.6 0.6 rs7562325 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6140 0.6300 0.6038 0.6037 0.6360 0.4857 0.5770 0.6101 0.8351 0.5871 0.6379 0.6100 0.6391 0.6438 0.5014 0.5696 0.5799 hom 325.56 12 2 182399097 . T C 325.56 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.05;MQ0=0;QD=27.13;VQSLOD=7.5344;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:30.08:359,30,0 2 182399638 182399638 A G exonic ITGA4 synonymous SNV ITGA4:NM_000885:exon27:c.A2979G:p.L993L 1. 0.99 1. 1. 1. 1. 0.9994 0.9934 1 0.9994 1 1.0000 1 0.9998 1. 1. 1. 1. 0.97 rs2124443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9934 0.9997 0.9997 0.9993 1 1.0000 1 0.9999 0.9983 0.9938 1 1 1 1 1 1 hom 2840.28 90 2 182399638 . A G 2840.28 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=31.56;VQSLOD=8.6109;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2873,223,0 2 182403851 182403851 G A exonic CERKL synonymous SNV CERKL:NM_001030312:exon9:c.C1167T:p.D389D,CERKL:NM_001030313:exon10:c.C1299T:p.D433D,CERKL:NM_001160277:exon12:c.C1452T:p.D484D,CERKL:NM_201548:exon12:c.C1506T:p.D502D,CERKL:NM_001030311:exon13:c.C1584T:p.D528D 0.99 0.97 1. 1. 1. 1. 0.9975 0.9754 0.9990 1 1 0.9995 1 0.9997 0.99 0.98 1. 0.99 1. rs10180793 . . Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000152986.4|RCV000290953.1 MedGen|MedGen CN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9762 0.9984 0.9947 1 1.0000 0.9999 0.9989 0.9997 0.9933 0.9766 0.9976 0.9967 1 1 0.9999 1 hom 2646.57 91 2 182403851 . G A 2646.57 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=29.08;VQSLOD=7.5484;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2680,205,0 2 182521578 182521578 G A exonic CERKL synonymous SNV CERKL:NM_001030311:exon1:c.C156T:p.F52F,CERKL:NM_001030312:exon1:c.C156T:p.F52F,CERKL:NM_001030313:exon1:c.C156T:p.F52F,CERKL:NM_001160277:exon1:c.C156T:p.F52F,CERKL:NM_201548:exon1:c.C156T:p.F52F 0.51 0.17 0.52 0.73 0.44 0.78 0.5257 0.2417 0.6240 0.7190 0.3961 0.4722 0.5321 0.7872 0.4 0.24 0.48 0.45 0.43 rs1473295 . . Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000152991.4|RCV000284458.1 MedGen|MedGen CN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5275 0.2263 0.6088 0.5334 0.7111 0.3931 0.4684 0.4985 0.7843 0.4071 0.2211 0.5995 0.5695 0.7183 0.3894 0.4676 0.4732 het 745.48 63 2 182521578 . G A 745.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.180;DP=63;Dels=0.00;FS=5.223;HRun=2;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=1.354;QD=11.83;ReadPosRankSum=1.602;VQSLOD=5.4555;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,31:63:99:775,0,783 2 182543455 182543455 T C exonic NEUROD1 nonsynonymous SNV NEUROD1:NM_002500:exon2:c.A133G:p.T45A 0.77 0.73 0.74 0.92 0.61 0.85 0.7027 0.7394 0.7724 0.9164 0.6410 0.6258 0.6918 0.8533 0.67 0.74 0.63 0.76 0.61 rs1801262 COSM1179689 1(prostate);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.289 0.148 N 1 0.090 P -0.69 0.019 N -3.57 0.949 D 0.09 0.059 N 0.001 0.016 -0.953 0.405 T 0.000 0.000 T . . . 0.238 0.117 5.076 0.657 0.076 0.000 0.001 N c -0.631 -0.415 0.843 0.249 0.598 0.340 0 4.43 0.528 0.563 0.231 0.069 0.176 0.021 0.196 0.997 0.653 9.282 0.367 . . . 0.7013 0.7377 0.7613 0.6401 0.9169 0.6394 0.6225 0.6731 0.8502 0.6827 0.7388 0.7458 0.6987 0.9227 0.6501 0.6277 0.6855 hom 1819.98 49 2 182543455 . T C 1819.98 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.53;MQ0=0;QD=37.14;VQSLOD=9.6750;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1853,147,0 2 182767178 182767178 C G exonic SSFA2 synonymous SNV SSFA2:NM_001287504:exon7:c.C939G:p.S313S,SSFA2:NM_001130445:exon8:c.C1398G:p.S466S,SSFA2:NM_001287503:exon8:c.C1398G:p.S466S,SSFA2:NM_006751:exon8:c.C1398G:p.S466S 0.0062 . 0.017 . 0.019 . 0.0124 0.0040 0.0126 0 0.0036 0.0180 0.0156 0.0031 0.013 0.0039 0.018 . 0.0082 rs34087767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0121 0.0036 0.0125 0.0167 0 0.0040 0.0185 0.0158 0.0026 0.0098 0.0046 0.0167 0.0166 0 0.0040 0.015 0.0061 het 1167.21 61 2 182767178 . C G 1167.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.421;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;MQRankSum=-0.684;QD=19.13;ReadPosRankSum=0.714;VQSLOD=6.3024;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,41:61:99:1197,0,524 2 183799558 183799558 G C exonic NCKAP1 synonymous SNV NCKAP1:NM_013436:exon26:c.C2781G:p.V927V,NCKAP1:NM_205842:exon27:c.C2799G:p.V933V 0.7 0.28 0.77 0.97 0.79 0.87 0.7903 0.3907 0.8257 0.9572 0.8631 0.7851 0.7869 0.8690 0.63 0.35 0.78 0.58 0.43 rs9288088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7822 0.3303 0.8082 0.7011 0.9545 0.8643 0.7756 0.7843 0.8615 0.6768 0.3439 0.8174 0.6854 0.9549 0.8719 0.7792 0.7898 hom 1069.18 39 2 183799558 . G C 1069.18 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.90;MQ0=0;QD=27.41;VQSLOD=7.3251;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:81.26:1102,81,0 2 185800905 185800905 A T exonic ZNF804A nonsynonymous SNV ZNF804A:NM_194250:exon4:c.A782T:p.Q261L 0.62 0.44 0.69 0.84 0.62 0.59 0.6448 0.4644 0.7673 0.8464 0.6613 0.6294 0.6608 0.6221 0.58 0.48 0.63 0.53 0.63 rs12476147 . . . . . . . . . . . . . 0.366 0.117 T 0.0 0.026 B 0.0 0.013 B 0.203 0.165 N 1 0.090 P -1.845 0.003 N 3.49 0.051 T -0.73 0.206 N 0.038 0.018 -1.065 0.106 T 0.000 0.000 T . . . 0.315 0.124 5.839 0.941 0.236 0.004 0.019 N c -1.243 -1.100 0.000 0.012 0.554 0.246 0 0.194 0.144 -0.151 0.101 -0.263 0.087 0.000 0.063 0.909 0.387 1.011 0.014 . . . 0.6561 0.4630 0.7572 0.7016 0.8427 0.6677 0.6260 0.6541 0.6236 0.5999 0.4572 0.7380 0.7185 0.8292 0.6638 0.6301 0.6436 hom 2990.10 104 2 185800905 . A T 2990.10 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8628;MQ=58.39;MQ0=0;QD=28.75;VQSLOD=7.8321;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3023,235,0 2 185801747 185801747 G A exonic ZNF804A nonsynonymous SNV ZNF804A:NM_194250:exon4:c.G1624A:p.E542K 0.49 0.058 0.63 0.84 0.58 0.52 0.5776 0.1224 0.7324 0.8500 0.6416 0.5851 0.5833 0.5430 0.43 0.14 0.58 0.36 0.52 rs4667001 . . . . . . . . . . . . . 0.107 0.295 T 0.012 0.151 B 0.006 0.112 B 0.029 0.255 N 1 0.090 P 2.425 0.705 M 3.26 0.067 T -1.52 0.370 N 0.061 0.045 -1.050 0.144 T 0.000 0.000 T . . . 2.025 0.304 16.37 0.987 0.439 0.444 0.271 N c -0.452 -0.426 0.000 0.035 0.554 0.246 0 3.22 0.359 1.562 0.357 0.953 0.551 0.929 0.320 0.381 0.251 6.250 0.199 . . . 0.5931 0.1192 0.7182 0.6142 0.8465 0.6447 0.5833 0.5907 0.5425 0.4749 0.1262 0.6932 0.6060 0.8350 0.6372 0.5801 0.5849 hom 1321.43 45 2 185801747 . G A 1321.43 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.06;MQ0=0;QD=29.37;VQSLOD=8.0906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1354,105,0 2 185801755 185801755 A G exonic ZNF804A synonymous SNV ZNF804A:NM_194250:exon4:c.A1632G:p.T544T 0.79 0.76 0.82 0.88 0.78 0.71 0.7949 0.7774 0.8493 0.8889 0.7704 0.7933 0.8196 0.7336 0.78 0.78 0.78 0.72 0.77 rs4667002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8000 0.7786 0.8487 0.8731 0.8863 0.7697 0.7913 0.8139 0.7370 0.7820 0.7717 0.8599 0.8633 0.8753 0.7646 0.7769 0.7695 hom 1210.91 41 2 185801755 . A G 1210.91 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56.76;MQ0=0;QD=29.53;VQSLOD=8.3811;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1244,99,0 2 185802211 185802211 - ACA exonic ZNF804A nonframeshift insertion ZNF804A:NM_194250:exon4:c.2088_2089insACA:p.T697_I698insT 0.49 0.06 0.63 0.84 0.58 0.52 0.5768 0.1218 0.7319 0.8497 0.6413 0.5845 0.5819 0.5411 0.43 0.14 0.58 . . rs5836928 COSM4603220 18(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5918 0.1187 0.7179 0.6116 0.8473 0.6446 0.5828 0.5892 0.5401 0.4738 0.1257 0.6938 0.6033 0.8325 0.6373 0.5792 0.5807 hom 5675.29 94 2 185802211 . C CACA 5675.29 Mask AC=2;AF=1.00;AN=2;DP=94;FS=0.000;HRun=0;HaplotypeScore=408.7087;MQ=56.54;MQ0=0;QD=60.38;set=variant2 GT:AD:DP:GQ:PL 1/1:7,85:94:99:5675,268,0 2 185802243 185802243 C A exonic ZNF804A nonsynonymous SNV ZNF804A:NM_194250:exon4:c.C2120A:p.T707K 0.49 0.059 0.63 0.84 0.58 0.52 0.5777 0.1227 0.7332 0.8503 0.6423 0.5854 0.5809 0.5419 0.43 0.14 0.58 0.37 0.5 rs1366842 COSM4133322 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.002 0.063 B 0.654 0.105 N 1 0.090 P 1.3 0.327 L 3.45 0.053 T -0.21 0.103 N 0.035 0.015 -0.942 0.424 T 0.000 0.000 T . . . 1.398 0.231 12.78 0.153 0.004 0.107 0.159 N c -1.269 -1.238 0.000 0.012 0.487 0.133 0 1.86 0.244 0.183 0.166 -1.049 0.020 0.000 0.063 0.000 0.016 5.764 0.174 . . . 0.5921 0.1189 0.7180 0.6123 0.8467 0.6446 0.5833 0.5888 0.5401 0.4767 0.1262 0.6942 0.6060 0.8371 0.6380 0.5829 0.5861 hom 2691.93 83 2 185802243 . C A 2691.93 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.301;DP=83;Dels=0.00;FS=2.855;HRun=2;HaplotypeScore=0.5784;MQ=57.54;MQ0=0;MQRankSum=2.064;QD=32.43;ReadPosRankSum=2.212;VQSLOD=3.4299;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,81:83:99:2725,165,0 2 185802363 185802363 A G exonic ZNF804A nonsynonymous SNV ZNF804A:NM_194250:exon4:c.A2240G:p.H747R 0.7 0.62 0.75 0.87 0.69 0.64 0.7139 0.6302 0.7999 0.8709 0.6993 0.7048 0.7323 0.6658 0.68 0.64 0.71 0.72 0.66 rs12477430 . . . . . . . . . . . . . 0.402 0.104 T 0.0 0.026 B 0.0 0.013 B 0.994 0.079 N 1 0.090 P 0.41 0.124 N 3.47 0.052 T -0.08 0.082 N 0.004 0.000 -1.048 0.149 T 0.000 0.000 T . . . -2.261 0.005 0.001 0.759 0.109 0.001 0.007 N c -1.263 -1.187 0.000 0.012 0.554 0.246 0 2.05 0.257 0.066 0.142 0.077 0.185 0.000 0.063 0.016 0.126 9.824 0.399 . . . 0.7218 0.6284 0.7979 0.7902 0.8659 0.7042 0.7021 0.7215 0.6663 0.6886 0.6222 0.8002 0.7848 0.8613 0.7035 0.6958 0.7077 hom 3515.35 117 2 185802363 . A G 3515.35 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.95;MQ0=0;QD=30.05;VQSLOD=8.3449;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3515,286,0 2 186670104 186670104 A C exonic FSIP2 nonsynonymous SNV FSIP2:NM_173651:exon17:c.A16071C:p.E5357D 0.96 0.93 0.92 0.94 0.99 1. 0.9763 0.9394 0.9181 0.9387 0.9477 0.9951 0.9765 0.9942 0.98 0.94 1. 0.98 0.98 rs7576532 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . . . . 1 0.090 P -2.295 0.001 N 1.44 0.327 T 3.4 0.001 N 0.027 0.009 -0.983 0.344 T 0.000 0.000 T . . . -0.800 0.040 0.043 0.094 0.001 0.354 0.251 N c -1.035 -0.882 0.000 0.012 0.487 0.133 0 2.78 0.316 0.049 0.139 -0.759 0.034 0.990 0.367 0.978 0.483 4.394 0.107 Fibrous sheath-interacting protein 2\x2c C-terminal . . 0.9725 0.9374 0.9235 0.9819 0.9389 0.9427 0.9971 0.9771 0.9941 0.9647 0.9371 0.9329 0.9702 0.9247 0.9444 0.9909 0.9714 hom 1074.82 36 2 186670104 . A C 1074.82 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;QD=29.86;VQSLOD=8.7706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:84.27:1108,84,0 2 186670979 186670979 T C exonic FSIP2 nonsynonymous SNV FSIP2:NM_173651:exon17:c.T16946C:p.I5649T 0.87 0.8 0.85 0.88 0.88 0.94 0.8752 0.8021 0.8684 0.8719 0.8666 0.8774 0.8993 0.9183 0.86 0.81 0.89 0.86 0.89 rs4666689 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . . . . 1 0.090 P 0.345 0.112 N 1.01 0.411 T 1.88 0.005 N 0.006 0.000 -0.991 0.323 T 0.000 0.000 T . . . -1.493 0.017 0.003 0.324 0.019 0.001 0.009 N c -1.469 -1.548 0.000 0.029 0.554 0.246 0 -3.53 0.043 -1.744 0.019 -0.424 0.059 0.000 0.063 0.000 0.016 0.812 0.010 . . . 0.8754 0.8017 0.8677 0.8825 0.8713 0.8566 0.8792 0.8842 0.9189 0.8554 0.8022 0.8789 0.9067 0.8727 0.8622 0.8800 0.8671 hom 1024.44 34 2 186670979 . T C 1024.44 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.000;DP=34;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=0.0000;MQ=57.23;MQ0=0;MQRankSum=1.427;QD=30.13;ReadPosRankSum=1.631;VQSLOD=4.0474;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,33:34:56.84:1057,57,0 2 186672897 186672897 A G exonic FSIP2 synonymous SNV FSIP2:NM_173651:exon17:c.A18864G:p.L6288L 0.33 0.25 0.36 0.41 0.37 0.29 0.3275 0.2493 0.3594 0.3909 0.2430 0.3448 0.3314 0.2821 0.32 0.24 0.35 0.29 0.35 rs4666690 COSM5425816;COSM5425815 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3270 0.2442 0.3628 0.4188 0.3850 0.2446 0.3402 0.3450 0.2775 0.2997 0.2339 0.3897 0.4404 0.3734 0.2381 0.3365 0.3086 hom 1501.93 49 2 186672897 . A G 1501.93 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.79;MQ0=0;QD=30.65;VQSLOD=8.6412;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1535,117,0 2 186697876 186697876 A G exonic FSIP2 nonsynonymous SNV FSIP2:NM_173651:exon23:c.A20647G:p.T6883A 0.96 0.93 0.92 0.94 0.99 1. 0.9766 0.9411 0.9188 0.9387 0.9479 0.9951 0.9777 0.9944 0.98 0.94 1. 0.97 1. rs1468999 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.740 0.064 N 1.000 0.090 P -1.525 0.005 N 0.99 0.418 T 1.48 0.008 N 0.021 0.005 -0.973 0.367 T 0.000 0.000 T . . . -0.507 0.055 0.211 0.305 0.017 0.016 0.052 N c -0.702 -0.615 0.000 0.029 0.554 0.246 0 3.3 0.368 1.117 0.306 -0.344 0.071 0.993 0.376 0.814 0.341 6.125 0.193 . . . 0.9727 0.9392 0.9226 0.9824 0.9389 0.9424 0.9970 0.9783 0.9943 0.9652 0.9388 0.9318 0.9702 0.9269 0.9439 0.9910 0.9714 hom 1466.27 49 2 186697876 . A G 1466.27 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=29.92;VQSLOD=8.5826;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1499,114,0 2 187532417 187532417 G A exonic ITGAV nonsynonymous SNV ITGAV:NM_001145000:exon22:c.G2239A:p.V747I,ITGAV:NM_001144999:exon24:c.G2209A:p.V737I,ITGAV:NM_002210:exon24:c.G2347A:p.V783I 0.99 0.97 1. 1. 1. 1. 0.9978 0.9754 0.9995 1 1 1.0000 0.9967 0.9999 0.99 0.97 1. 1. 1. rs2230616 . . . . . . . . . . . . . 0.694 0.046 T 0.002 0.131 B 0.01 0.170 B 0.002 0.382 N 0.969 0.258 P 0.39 0.122 N 0.62 0.533 T -0.13 0.090 N 0.059 0.171 -0.948 0.413 T 0.000 0.000 T . . . 2.394 0.349 18.78 0.890 0.179 0.410 0.263 N c -0.603 -0.388 0.000 0.070 0.732 0.924 0 3.39 0.378 2.811 0.474 0.244 0.267 1.000 0.715 1.000 0.888 8.678 0.332 Integrin alpha-2|Integrin domain . . 0.9983 0.9748 0.9996 1 1 1 1.0000 0.9989 0.9998 0.9923 0.9732 1 1 1 1 0.9998 1 hom 3384.15 117 2 187532417 . G A 3384.15 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2031;MQ=59.68;MQ0=0;QD=28.92;VQSLOD=7.9405;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3384,265,0 2 187626338 187626338 C T exonic FAM171B synonymous SNV FAM171B:NM_177454:exon8:c.C1269T:p.D423D 0.17 0.011 0.23 0.046 0.32 0.29 0.2624 0.0514 0.2563 0.0388 0.2690 0.3127 0.2494 0.3085 0.22 0.057 0.3 0.14 0.15 rs13026081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2640 0.0484 0.2596 0.3234 0.0379 0.2668 0.3121 0.2807 0.3058 0.2244 0.0542 0.2800 0.3245 0.0343 0.2573 0.3280 0.2740 het 1645.76 121 2 187626338 . C T 1645.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.249;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8332;MQ=59.62;MQ0=0;MQRankSum=2.591;QD=13.60;ReadPosRankSum=-0.751;VQSLOD=5.4506;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,65:121:99:1676,0,1619 2 187627337 187627337 G A exonic FAM171B synonymous SNV FAM171B:NM_177454:exon8:c.G2268A:p.E756E 0.01 . 0.019 . 0.034 0.0041 0.0216 0.0049 0.0135 0 0.0221 0.0319 0.0221 0.0073 0.022 0.0057 0.031 0.011 0.033 rs17855087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0216 0.0049 0.0139 0.0275 5.801e-05 0.0209 0.0328 0.0236 0.0079 0.0215 0.0079 0.0179 0.0298 0 0.0209 0.0309 0.0356 het 717.43 69 2 187627337 . G A 717.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.085;DP=69;Dels=0.00;FS=0.995;HRun=1;HaplotypeScore=1.8606;MQ=59.12;MQ0=0;MQRankSum=-0.164;QD=10.40;ReadPosRankSum=-0.517;VQSLOD=6.3639;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,29:69:99:747,0,1037 2 187698751 187698751 G A exonic ZSWIM2 synonymous SNV ZSWIM2:NM_182521:exon6:c.C750T:p.T250T 0.2 0.098 0.25 0.11 0.27 0.3 0.2603 0.1226 0.2373 0.1167 0.2464 0.2943 0.2713 0.3053 0.24 0.12 0.29 0.17 0.32 rs7559533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.1178 0.2414 0.2853 0.1143 0.2529 0.2917 0.2757 0.3074 0.2149 0.1180 0.2339 0.2914 0.1242 0.2632 0.2639 0.2648 het 930.09 64 2 187698751 . G A 930.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.011;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.209;QD=14.53;ReadPosRankSum=-0.787;VQSLOD=6.7984;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,34:64:99:960,0,832 2 187702100 187702100 G T exonic ZSWIM2 nonsynonymous SNV ZSWIM2:NM_182521:exon5:c.C676A:p.L226M 0.0076 . 0.01 . 0.007 0.025 0.0063 0.0007 0.0046 0.0003 0.0023 0.0064 0.0088 0.0152 0.0052 0.0009 0.0074 0.011 . rs112852209 . . . . . . . . . . . . . 0.01 0.564 D 0.998 0.715 D 0.956 0.680 D 0.026 0.259 N 1.000 0.090 N 2.685 0.788 M -2.35 0.881 D -0.7 0.199 N 0.25 0.305 -0.039 0.815 T 0.672 0.887 D . . . 2.956 0.416 22.1 0.996 0.719 0.763 0.371 D c 0.291 0.186 0.000 0.029 0.487 0.133 0 2.77 0.315 2.477 0.446 0.998 0.613 0.933 0.321 0.983 0.502 8.823 0.340 . . . 0.0062 0.0007 0.0051 0.0081 0.0001 0.0016 0.0065 0.0082 0.0147 0.0037 0.0017 0.0036 0.0099 0.0006 0.0012 0.0055 0.0061 het 815.97 83 2 187702100 . G T 815.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.978;DP=83;Dels=0.00;FS=0.843;HRun=1;HaplotypeScore=3.3826;MQ=57.51;MQ0=0;MQRankSum=-0.966;QD=9.83;ReadPosRankSum=0.384;VQSLOD=3.6109;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,35:83:99:846,0,1325 2 188211112 188211112 C T exonic CALCRL synonymous SNV CALCRL:NM_001271751:exon14:c.G1185A:p.L395L,CALCRL:NM_005795:exon15:c.G1185A:p.L395L 0.087 0.02 0.063 0.072 0.1 0.2 0.1028 0.0369 0.0416 0.0696 0.0699 0.1143 0.0819 0.1701 0.08 0.037 0.1 0.054 0.074 rs3771095 COSM3757847 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0886 0.0311 0.0405 0.0417 0.0615 0.0671 0.1050 0.0836 0.1573 0.0753 0.0383 0.0408 0.0430 0.0656 0.0720 0.0997 0.0986 het 233.94 26 2 188211112 . C T 233.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.821;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.659;QD=9.00;ReadPosRankSum=-0.553;VQSLOD=6.2000;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,10:26:99:264,0,447 2 188250301 188250301 T A exonic CALCRL nonsynonymous SNV CALCRL:NM_001271751:exon3:c.A22T:p.N8Y,CALCRL:NM_005795:exon4:c.A22T:p.N8Y 1. 1. 1. 1. 1. 1. 0.9996 0.9961 1 1 1 0.9999 1 1 1. 1. 1. 1. 0.74 rs698577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9960 0.9998 0.9989 1 1 0.9999 1 1 0.9990 0.9969 1 0.9934 1 1 0.9999 1 hom 1824.18 68 2 188250301 . T A 1824.18 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9937;MQ=57.28;MQ0=0;QD=26.83;VQSLOD=4.3339;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1857,144,0 2 188348943 188348943 G A exonic TFPI nonsynonymous SNV TFPI:NM_001032281:exon6:c.C536T:p.P179L,TFPI:NM_006287:exon6:c.C536T:p.P179L,TFPI:NM_001318941:exon7:c.C536T:p.P179L,TFPI:NM_001329240:exon7:c.C536T:p.P179L,TFPI:NM_001329241:exon7:c.C536T:p.P179L,TFPI:NM_001329239:exon8:c.C536T:p.P179L 0.001 . 0.0043 . 0.002 . 0.0018 0.0003 0.0028 0.0001 0.0015 0.0024 0.0022 0.0001 0.0015 0.0005 0.0021 . . rs140515889 . . . . . . . . . . . . . 0.449 0.123 T 0.0 0.026 B 0.0 0.013 B 0.001 0.006 N 1 0.090 N -1.7 0.004 N 0.39 0.663 T 0.73 0.050 N 0.03 0.210 -0.970 0.372 T 0.058 0.243 T . . . -1.238 0.024 0.006 0.738 0.101 0.001 0.005 N c -1.983 -1.998 1.000 0.747 0.672 0.522 0 -9.99 0.004 -0.617 0.056 -1.471 0.011 0.000 0.063 0.000 0.016 3.848 0.084 . . . 0.0018 0.0003 0.0027 0.0003 0.0001 0.0011 0.0026 0.0039 6.572e-05 0.0020 0.0005 0.0012 0 0.0006 0.0011 0.0032 0.0031 het 253.83 31 2 188348943 . G A 253.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.259;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;MQRankSum=1.424;QD=8.19;ReadPosRankSum=-0.186;VQSLOD=4.2681;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,11:31:99:284,0,526 2 189861933 189861933 C A exonic COL3A1 nonsynonymous SNV COL3A1:NM_000090:exon25:c.C1804A:p.P602T 0.0046 0.003 0.0086 . 0.012 0.001 0.0044 0.0028 0.0035 0 0.0023 0.0063 0.0044 0.0013 0.0051 0.003 0.0062 . 0.0082 rs35795890 . . Benign|other|Benign not_specified|Ehlers-Danlos_syndrome\x2c_type_4|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000124401.3|RCV000203161.4|RCV000250986.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:Orphanet CN169374|C0268338:130050:ORPHA286:17025000|CN118826:ORPHA91387 . . . . . . 0.257 0.167 T 0.5 0.353 P 0.491 0.455 P 0.000 0.486 D 1.000 0.548 D 2.17 0.609 M -3.21 0.933 D -2.94 0.614 D 0.46 0.515 0.468 0.901 D 0.750 0.915 D . . . 3.652 0.496 23.2 0.984 0.408 0.984 0.821 D c 0.364 0.465 1.000 0.425 0.554 0.246 0 6.03 0.978 2.990 0.488 0.935 0.490 0.989 0.365 0.879 0.368 20.155 0.981 . . . 0.0045 0.0029 0.0043 0.0052 0 0.0022 0.0066 0.0097 0.0011 0.0048 0.0040 0.0036 0.0033 0 0.0032 0.0062 0.0051 het 1669 147 2 189861933 . C A 1669 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.440;DP=147;Dels=0.00;FS=7.331;HRun=1;HaplotypeScore=0.9993;MQ=59.27;MQ0=0;MQRankSum=0.817;QD=11.35;ReadPosRankSum=1.255;VQSLOD=4.2132;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,70:147:99:1699,0,2042 2 189864080 189864080 G A exonic COL3A1 nonsynonymous SNV COL3A1:NM_000090:exon30:c.G2092A:p.A698T 0.22 0.11 0.25 0.23 0.26 0.29 0.3204 0.1595 0.3432 0.3038 0.3425 0.3338 0.3364 0.3469 0.21 0.13 0.25 0.16 0.049 rs1800255 COSM3757851;COSM3757850 1(thyroid);4(large_intestine) Benign|Benign|Benign|Benign COLLAGEN_TYPE_III_POLYMORPHISM|not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome\x2c_type_4 RCV000018745.2|RCV000177438.3|RCV000251322.1|RCV000395000.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN118826:ORPHA91387|C0268338:130050:ORPHA286:17025000 . . . . . . 0.231 0.182 T 0.0 0.026 B 0.0 0.013 B 0.017 0.277 N 0.708 0.300 P 0.975 0.246 L -3.23 0.934 D -0.44 0.146 N 0.158 0.189 -1.057 0.124 T 0.000 0.001 T . . . 3.334 0.459 22.9 0.978 0.357 0.274 0.230 N c -0.676 -0.572 0.901 0.260 0.554 0.246 0 0.873 0.182 0.112 0.152 0.143 0.228 0.000 0.063 0.906 0.385 1.737 0.027 . . . 0.2497 0.1148 0.2355 0.3024 0.2253 0.2538 0.2530 0.2641 0.3056 0.2118 0.1219 0.2368 0.3411 0.2178 0.2579 0.2463 0.2485 hom 453.55 14 2 189864080 . G A 453.55 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6195;MQ=60.00;MQ0=0;QD=32.40;VQSLOD=8.2509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:42.12:487,42,0 2 189875421 189875421 T G exonic COL3A1 nonsynonymous SNV COL3A1:NM_000090:exon50:c.T4059G:p.H1353Q 1. 0.99 1. 1. 1. 1. 0.9985 0.9855 0.9993 1 1 0.9997 0.9978 1 0.99 0.98 1. 1. 1. rs1516446 . . Benign|Benign\x2cBenign not_specified|Ehlers-Danlos_syndrome\x2c_type_4\x2cnot_specified RCV000124416.2|RCV000472808.1\x2cRCV000218509.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen CN169374|C0268338:130050:ORPHA286:17025000\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.486 N 1.000 0.250 P -3.715 0.000 N 0.36 0.579 T 4.73 0.000 N 0.411 0.470 -0.950 0.410 T 0.000 0.000 T . . . 0.421 0.135 6.799 0.390 0.026 0.165 0.192 N c -1.416 -1.076 1.000 0.436 0.554 0.246 0 1.42 0.214 1.719 0.374 -0.320 0.077 0.979 0.349 0.979 0.486 6.129 0.193 Fibrillar collagen\x2c C-terminal . . 0.9988 0.9857 0.9993 0.9963 1 1 0.9999 0.9987 1 0.9958 0.9852 1 0.9967 1 1 0.9999 1 hom 3684.05 117 2 189875421 . T G 3684.05 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9134;MQ=59.21;MQ0=0;QD=31.49;VQSLOD=9.6600;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3684,283,0 2 189907937 189907937 A G exonic COL5A2 synonymous SNV COL5A2:NM_000393:exon48:c.T3411C:p.G1137G 0.94 0.94 0.87 0.91 0.98 0.98 0.9540 0.9484 0.8223 0.9090 0.9545 0.9793 0.9536 0.9705 0.97 0.95 0.98 0.95 0.97 rs6434312 COSM4001449 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_classic_type RCV000124510.3|RCV000206780.2 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0268335:130000:ORPHA287:20766005:83470009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9500 0.9493 0.8415 0.9726 0.9115 0.9500 0.9805 0.9556 0.9713 0.9638 0.9512 0.8723 0.9834 0.9172 0.9616 0.9811 0.9703 hom 1380.97 52 2 189907937 . A G 1380.97 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=26.56;VQSLOD=7.6201;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1414,108,0 2 189932831 189932831 T C exonic COL5A2 synonymous SNV COL5A2:NM_000393:exon21:c.A1311G:p.P437P 0.94 0.91 0.87 0.97 0.98 0.98 0.9591 0.9190 0.8204 0.9658 0.9983 0.9813 0.9681 0.9715 0.96 0.92 0.98 0.91 0.98 rs2229495 . . Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_classic_type RCV000124497.3|RCV000473852.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0268335:130000:ORPHA287:20766005:83470009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9568 0.9194 0.8389 0.9726 0.9688 0.9982 0.9816 0.9582 0.9722 0.9644 0.9229 0.8696 0.9834 0.9747 0.9983 0.9836 0.9785 hom 4386.66 129 2 189932831 . T C 4386.66 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.7460;MQ=59.28;MQ0=0;QD=34.01;VQSLOD=7.8297;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4386,358,0 2 189940142 189940142 T G exonic COL5A2 nonsynonymous SNV COL5A2:NM_000393:exon17:c.A1081C:p.M361L 0.01 0.0008 0.023 . 0.024 0.0092 0.0183 0.0038 0.0111 0 0.0079 0.0274 0.0177 0.0096 0.021 0.0057 0.028 0.022 0.033 rs76148000 . . Benign|Benign|Likely benign not_specified|Ehlers-Danlos_syndrome\x2c_classic_type|Ehlers-Danlos_syndrome\x2c_type_7A RCV000124494.5|RCV000205728.2|RCV000345304.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT|MedGen CN169374|C0268335:130000:ORPHA287:20766005:83470009|CN071434 . . . . . . 0.797 0.031 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 D 0.525 0.319 D -0.5 0.026 N -3.34 0.940 D -0.59 0.176 N 0.095 0.095 -0.419 0.715 T 0.225 0.590 T . . . 4.046 0.544 23.7 0.938 0.232 0.931 0.570 D c -0.350 -0.090 1.000 0.747 0.745 0.986 0 5.17 0.707 4.451 0.595 1.011 0.635 1.000 0.715 0.997 0.653 10.621 0.445 . . . 0.0183 0.0037 0.0115 0.0214 0 0.0078 0.0289 0.0250 0.0103 0.0174 0.0071 0.0143 0.0298 0 0.0074 0.0272 0.0224 het 1363.94 108 2 189940142 . T G 1363.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.258;DP=108;Dels=0.00;FS=7.445;HRun=0;HaplotypeScore=2.7627;MQ=58.39;MQ0=0;MQRankSum=0.396;QD=12.63;ReadPosRankSum=2.651;VQSLOD=3.3219;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,54:108:99:1394,0,1169 2 189974958 189974958 G T exonic COL5A2 synonymous SNV COL5A2:NM_000393:exon2:c.C315A:p.T105T 0.89 0.85 0.82 0.9 0.98 0.89 0.9322 0.8546 0.7824 0.9121 0.9873 0.9780 0.9493 0.8887 0.94 0.86 0.98 0.84 0.76 rs4128539 . . Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_classic_type RCV000124523.3|RCV000204654.2 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0268335:130000:ORPHA287:20766005:83470009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9307 0.8551 0.7988 0.9694 0.9182 0.9883 0.9794 0.9394 0.8874 0.9415 0.8626 0.8365 0.9834 0.9253 0.9891 0.9815 0.9644 hom 3866 129 2 189974958 . G T 3866 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=29.97;VQSLOD=8.7848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3866,295,0 2 190323530 190323530 A G exonic WDR75 synonymous SNV WDR75:NM_032168:exon7:c.A621G:p.T207T,WDR75:NM_001303096:exon8:c.A429G:p.T143T 0.53 0.27 0.54 0.67 0.66 0.58 0.6195 0.3048 0.5837 0.7022 0.6454 0.6679 0.6454 0.5923 0.56 0.32 0.68 0.5 0.74 rs1157910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6247 0.2951 0.5848 0.6650 0.7005 0.6490 0.6707 0.6354 0.5885 0.5689 0.3240 0.6034 0.6233 0.7031 0.6440 0.6726 0.6299 het 2557.75 194 2 190323530 . A G 2557.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.698;DP=194;Dels=0.00;FS=13.642;HRun=0;HaplotypeScore=5.7318;MQ=59.68;MQ0=0;MQRankSum=-0.797;QD=13.18;ReadPosRankSum=0.508;VQSLOD=3.7181;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,101:194:99:2588,0,2365 2 190430177 190430177 A G exonic SLC40A1 synonymous SNV SLC40A1:NM_014585:exon6:c.T663C:p.V221V 0.55 0.16 0.68 0.81 0.61 0.67 0.6142 0.2200 0.7601 0.7885 0.5728 0.6257 0.5936 0.6405 0.5 0.23 0.64 0.49 0.64 rs2304704 . . Benign|Benign not_specified|Hereditary_hemochromatosis RCV000247963.1|RCV000281104.1 MedGen|MedGen:SNOMED_CT CN169374|CN229568:35400008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6285 0.2126 0.7486 0.7173 0.7929 0.5704 0.6244 0.6453 0.6380 0.5082 0.2270 0.7386 0.7450 0.7902 0.5555 0.6075 0.5867 het 1712.52 133 2 190430177 . A G 1712.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.415;DP=133;Dels=0.00;FS=4.238;HRun=1;HaplotypeScore=0.9996;MQ=59.83;MQ0=0;MQRankSum=1.137;QD=12.88;ReadPosRankSum=1.745;VQSLOD=5.8172;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,64:133:99:1743,0,1981 2 190531426 190531426 G A exonic ASNSD1 nonsynonymous SNV ASNSD1:NM_019048:exon4:c.G568A:p.G190R 0.98 0.94 1. 1. 1. 1. 0.9951 0.9464 0.9976 0.9983 1 0.9998 0.9978 0.9999 0.98 0.95 1. 0.97 1. rs1437880 . . . . . . . . . . . . . 0.813 0.030 T 0.0 0.026 B 0.0 0.013 B 0.185 0.170 N 1 0.090 P -1.525 0.005 N 1.54 0.301 T 0.22 0.047 N 0.521 0.563 -1.013 0.261 T 0.000 0.000 T . . . -0.725 0.044 0.063 0.120 0.002 0.026 0.072 N c -1.132 -1.064 0.987 0.311 0.707 0.730 0 1.09 0.194 1.933 0.395 0.244 0.267 0.657 0.280 0.005 0.090 6.506 0.213 . . . 0.9962 0.9478 0.9976 1 0.9974 1 0.9999 0.9985 0.9998 0.9853 0.9494 0.9952 1 0.9981 1 0.9997 0.9990 hom 2392.97 68 2 190531426 . G A 2392.97 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7820;MQ=60.00;MQ0=0;QD=35.19;VQSLOD=9.2580;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2426,193,0 2 190595258 190595258 G T exonic ANKAR nonsynonymous SNV ANKAR:NM_144708:exon16:c.G3231T:p.L1077F 0.98 0.94 0.99 1. 1. 1. 0.9939 0.9371 0.9955 0.9998 1 0.9996 0.9967 0.9999 0.98 0.94 1. 0.98 1. rs1225090 . . . . . . . . . . . . . 0.71 0.040 T 0.0 0.026 B 0.001 0.040 B 0.578 0.112 N 1 0.090 P -0.84 0.015 N 2.25 0.178 T -0.5 0.158 N 0.015 0.007 -1.024 0.224 T 0.000 0.000 T . . . -1.611 0.014 0.002 0.061 0.000 0.002 0.010 N c -1.725 -1.706 0.000 0.048 0.554 0.246 0 -1.14 0.092 -1.335 0.027 -1.065 0.020 0.000 0.063 0.004 0.083 1.827 0.029 Armadillo-like helical|Armadillo-type fold . . 0.9950 0.9346 0.9954 1 0.9999 1 0.9995 0.9958 0.9999 0.9819 0.9371 0.9964 1 1 1 0.9998 0.9949 hom 2325.54 77 2 190595258 . G T 2325.54 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9957;MQ=58.97;MQ0=0;QD=30.20;VQSLOD=8.8427;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2359,181,0 2 190602513 190602513 T C exonic ANKAR synonymous SNV ANKAR:NM_144708:exon18:c.T3528C:p.F1176F 0.98 0.94 0.99 1. 1. 1. 0.9938 0.9372 0.9955 0.9983 1 0.9995 0.9967 0.9999 0.98 0.94 1. 0.98 0.92 rs1225099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9323 0.9950 1 0.9972 1 0.9994 0.9959 0.9998 0.9817 0.9369 0.9964 1 0.9981 1 0.9997 0.9949 hom 2112.43 73 2 190602513 . T C 2112.43 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.37;MQ0=0;QD=28.94;VQSLOD=8.3285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2145,172,0 2 190617643 190617643 A G exonic OSGEPL1 synonymous SNV OSGEPL1:NM_022353:exon6:c.T1026C:p.N342N 0.97 0.89 0.99 1. 1. 1. 0.9908 0.8979 0.9949 1 0.9998 0.9995 0.9966 0.9992 0.97 0.9 1. 0.97 . rs2243876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9922 0.8963 0.9937 0.9999 1 0.9999 0.9993 0.9949 0.9992 0.9702 0.8964 0.9952 1 1 1 0.9995 0.9919 hom 2586.68 83 2 190617643 . A G 2586.68 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=31.16;VQSLOD=9.2647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2620,208,0 2 191064753 191064753 C T exonic C2orf88 nonsynonymous SNV C2orf88:NM_001042519:exon2:c.C167T:p.T56I,C2orf88:NM_001042520:exon2:c.C167T:p.T56I,C2orf88:NM_032321:exon2:c.C167T:p.T56I,C2orf88:NM_001042521:exon3:c.C167T:p.T56I 0.35 0.5 0.28 0.44 0.24 0.24 0.2706 0.4776 0.2192 0.4728 0.1421 0.2449 0.2733 0.2336 0.3 0.45 0.24 0.35 0.24 rs6753459 COSM5904709 1(skin) . . . . . . . . . . . 0.413 0.100 T 0.0 0.026 B 0.001 0.040 B 0.971 0.078 N 1 0.090 P . . . 0.86 0.468 T -1.46 0.358 N 0.031 0.404 -0.910 0.469 T 0.000 0.000 T . . . -0.902 0.036 0.026 0.331 0.020 0.019 0.058 N c -1.645 -1.702 1.000 0.489 0.707 0.730 0 -3.0 0.051 -1.443 0.025 -2.169 0.004 0.000 0.063 0.000 0.016 8.761 0.337 . ENSG00000198130.10|ENSG00000151690.10|ENSG00000151690.10|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000187699.6|ENSG00000151689.8|ENSG00000198130.10|ENSG00000151689.8|ENSG00000151689.8|ENSG00000151689.8|ENSG00000198130.10|ENSG00000198130.10|ENSG00000198130.10|ENSG00000198130.10|ENSG00000151690.10|ENSG00000151689.8|ENSG00000151689.8|ENSG00000198130.10|ENSG00000187699.6|ENSG00000198130.10 Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Stomach|Thyroid|Thyroid 0.2627 0.4810 0.2171 0.2223 0.4769 0.1391 0.2493 0.2570 0.2356 0.2998 0.4647 0.2344 0.2185 0.4845 0.1431 0.2310 0.2230 hom 8151.47 250 2 191064753 . C T 8151.47 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8255;MQ=58.34;MQ0=0;QD=32.61;VQSLOD=9.2188;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8150,668,0 2 191224981 191224981 G T exonic INPP1 synonymous SNV INPP1:NM_002194:exon2:c.G153T:p.T51T,INPP1:NM_001128928:exon3:c.G153T:p.T51T 0.45 0.72 0.33 0.49 0.3 0.28 0.3430 0.6780 0.2745 0.4938 0.2715 0.3073 0.3480 0.2731 0.42 0.66 0.3 0.51 0.29 rs4656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3315 0.6753 0.2740 0.2751 0.5028 0.2625 0.3108 0.3354 0.2699 0.4098 0.6589 0.2983 0.2682 0.5235 0.2610 0.3039 0.2980 hom 1963.26 67 2 191224981 . G T 1963.26 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5929;MQ=58.33;MQ0=0;QD=29.30;VQSLOD=8.0335;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1996,159,0 2 191231458 191231458 G A exonic INPP1 synonymous SNV INPP1:NM_002194:exon4:c.G303A:p.E101E,INPP1:NM_001128928:exon5:c.G303A:p.E101E 0.69 0.81 0.8 0.76 0.58 0.5 0.6234 0.7936 0.8220 0.7663 0.5408 0.5749 0.6311 0.5304 0.65 0.78 0.58 0.73 0.55 rs11544940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6267 0.7899 0.8093 0.5914 0.7768 0.5490 0.5730 0.6306 0.5242 0.6457 0.7849 0.7842 0.6225 0.7856 0.5518 0.5701 0.5570 hom 5668.66 174 2 191231458 . G A 5668.66 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4786;MQ=59.47;MQ0=0;QD=32.58;VQSLOD=9.2286;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:5668,439,0 2 191231503 191231503 G A exonic INPP1 synonymous SNV INPP1:NM_002194:exon4:c.G348A:p.V116V,INPP1:NM_001128928:exon5:c.G348A:p.V116V 0.28 0.22 0.22 0.46 0.23 0.25 0.2484 0.2258 0.2122 0.4717 0.1367 0.2416 0.2478 0.2432 0.23 0.22 0.24 0.23 0.25 rs4940 COSM3757854 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2439 0.2197 0.2127 0.2050 0.4779 0.1327 0.2469 0.2433 0.2414 0.2285 0.2176 0.2261 0.2119 0.4988 0.1380 0.2290 0.2041 hom 4953 156 2 191231503 . G A 4953 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.399;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3148;MQ=59.73;MQ0=0;MQRankSum=1.421;QD=31.75;ReadPosRankSum=-1.577;VQSLOD=3.7898;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,155:156:99:4921,366,0 2 191235901 191235901 A C exonic INPP1 synonymous SNV INPP1:NM_002194:exon6:c.A973C:p.R325R,INPP1:NM_001128928:exon7:c.A973C:p.R325R 0.88 0.8 0.92 0.91 0.87 0.93 0.8732 0.8202 0.9433 0.9115 0.8504 0.8574 0.8565 0.9115 0.85 0.82 0.86 0.81 0.85 rs1882891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8743 0.8164 0.9364 0.7669 0.9151 0.8554 0.8608 0.8670 0.9103 0.8559 0.8212 0.9224 0.7682 0.9168 0.8469 0.8691 0.8625 hom 2968.19 101 2 191235901 . A C 2968.19 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5717;MQ=59.07;MQ0=0;QD=29.39;VQSLOD=8.7661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:101:99:3001,244,0 2 192160839 192160839 A T exonic MYO1B synonymous SNV MYO1B:NM_001130158:exon3:c.A138T:p.T46T,MYO1B:NM_001161819:exon3:c.A138T:p.T46T,MYO1B:NM_001330237:exon3:c.A138T:p.T46T,MYO1B:NM_001330238:exon3:c.A138T:p.T46T,MYO1B:NM_012223:exon3:c.A138T:p.T46T 0.51 0.33 0.59 0.66 0.58 0.47 0.5571 0.3628 0.6170 0.6623 0.6514 0.5721 0.5325 0.4861 0.51 0.37 0.58 0.52 0.47 rs4853574 COSM4606514;COSM4606515 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5594 0.3559 0.5985 0.5149 0.6601 0.6493 0.5713 0.5238 0.4726 0.5544 0.3797 0.6146 0.4967 0.6747 0.6566 0.6145 0.5922 het 377.27 37 2 192160839 . A T 377.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.233;DP=37;Dels=0.00;FS=5.824;HRun=1;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;MQRankSum=-1.160;QD=10.20;ReadPosRankSum=0.696;VQSLOD=4.1064;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,15:37:99:407,0,617 2 192160875 192160875 C T exonic MYO1B synonymous SNV MYO1B:NM_001130158:exon3:c.C174T:p.Y58Y,MYO1B:NM_001161819:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330237:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330238:exon3:c.C174T:p.Y58Y,MYO1B:NM_012223:exon3:c.C174T:p.Y58Y 0.51 0.33 0.59 0.66 0.58 0.47 0.5578 0.3636 0.6203 0.6642 0.6510 0.5729 0.5321 0.4846 0.51 0.37 0.58 0.52 0.52 rs4853575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5662 0.3617 0.6138 0.5202 0.6676 0.6512 0.5761 0.5351 0.4822 0.5544 0.3795 0.6163 0.4967 0.6749 0.6568 0.6144 0.5938 het 631.74 63 2 192160875 . C T 631.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.228;DP=63;Dels=0.00;FS=3.541;HRun=0;HaplotypeScore=2.5433;MQ=58.67;MQ0=0;MQRankSum=2.061;QD=10.03;ReadPosRankSum=-1.662;VQSLOD=5.0125;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,26:63:99:662,0,884 2 192250726 192250726 G A exonic MYO1B synonymous SNV MYO1B:NM_001130158:exon16:c.G1470A:p.E490E,MYO1B:NM_001161819:exon16:c.G1470A:p.E490E,MYO1B:NM_001330237:exon16:c.G1470A:p.E490E,MYO1B:NM_001330238:exon16:c.G1470A:p.E490E,MYO1B:NM_012223:exon16:c.G1470A:p.E490E 0.78 0.37 0.84 0.94 0.96 0.94 0.9113 0.4416 0.8568 0.9434 0.9813 0.9720 0.9240 0.9540 0.8 0.46 0.97 0.62 0.94 rs13018796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9170 0.4319 0.8547 0.8965 0.9440 0.9835 0.9766 0.9171 0.9542 0.8210 0.4458 0.8481 0.9040 0.9488 0.9851 0.9757 0.9448 hom 8435.26 246 2 192250726 . G A 8435.26 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6974;MQ=59.74;MQ0=0;QD=34.29;VQSLOD=8.3466;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:8434,677,0 2 192279327 192279327 T C exonic MYO1B synonymous SNV MYO1B:NM_012223:exon27:c.T2917C:p.L973L,MYO1B:NM_001330237:exon28:c.T3004C:p.L1002L,MYO1B:NM_001330238:exon28:c.T3004C:p.L1002L,MYO1B:NM_001130158:exon29:c.T3091C:p.L1031L,MYO1B:NM_001161819:exon29:c.T3091C:p.L1031L 0.75 0.26 0.84 0.94 0.96 0.94 0.9019 0.3482 0.8519 0.9430 0.9811 0.9704 0.9174 0.9536 0.77 0.37 0.97 0.6 0.86 rs2271767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9096 0.3388 0.8492 0.8932 0.9439 0.9830 0.9749 0.9131 0.9540 0.7949 0.3565 0.8461 0.8874 0.9494 0.9851 0.9744 0.9409 hom 2220.11 75 2 192279327 . T C 2220.11 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3302;MQ=60.00;MQ0=0;QD=29.60;VQSLOD=8.1572;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2253,169,0 2 192701393 192701393 A G exonic CAVIN2 synonymous SNV CAVIN2:NM_004657:exon2:c.T534C:p.G178G 0.63 0.51 0.67 0.76 0.58 0.7 0.6054 0.4928 0.7470 0.7430 0.5897 0.5671 0.62 0.6621 0.56 0.51 0.58 0.62 0.58 rs10167187 COSM5038193 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6130 0.4902 0.7383 0.7031 0.7417 0.5857 0.5585 0.6009 0.6563 0.5550 0.4879 0.7005 0.6987 0.7261 0.5741 0.5577 0.5898 hom 1780.81 54 2 192701393 . A G 1780.81 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=32.98;VQSLOD=9.9962;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1814,147,0 2 192701407 192701407 G C exonic CAVIN2 nonsynonymous SNV CAVIN2:NM_004657:exon2:c.C520G:p.Q174E 0.041 0.092 0.033 . 0.037 0.026 0.0400 0.0800 0.0289 0 0.0293 0.0436 0.0484 0.0341 0.053 0.066 0.047 0.12 0.025 rs61735649 COSM4133347 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.191 N -2.835 0.000 N 0.41 0.571 T 1.3 0.010 N 0.006 0.000 -1.024 0.224 T 0.001 0.004 T . . . -0.394 0.062 0.400 0.683 0.084 0.408 0.263 N c -1.020 -0.738 1.000 0.747 0.543 0.218 0 4.28 0.500 3.903 0.558 0.067 0.174 1.000 0.715 0.864 0.361 10.705 0.450 . ENSG00000138378.13|ENSG00000231858.1 Adipose_Subcutaneous|Adipose_Subcutaneous 0.0389 0.0793 0.0281 0.0940 0.0001 0.0289 0.0407 0.0537 0.0331 0.0477 0.0756 0.0467 0.1060 0 0.0318 0.0395 0.0420 het 365.60 33 2 192701407 . G C 365.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.633;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3670;MQ=58.59;MQ0=0;MQRankSum=0.994;QD=11.08;ReadPosRankSum=-0.307;VQSLOD=5.5503;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,15:33:99:396,0,564 2 196673533 196673533 A G exonic DNAH7 nonsynonymous SNV DNAH7:NM_018897:exon53:c.T9956C:p.L3319P 0.96 0.86 0.99 1. 1. 1. 0.9894 0.8777 0.9944 1 1 0.9998 0.9956 0.9996 0.96 0.88 1. 0.94 0.99 rs13411834 . . Benign not_specified RCV000454766.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.803 0.068 N 0.003 0.438 P -4.025 0.000 N -2.19 0.868 D 9.47 0.000 N 0.074 0.064 -0.827 0.535 T 0.000 0.000 T . . . 2.162 0.321 17.26 0.396 0.027 0.028 0.075 N c -0.912 -0.501 0.999 0.378 0.500 0.196 0 5.06 0.677 7.583 0.817 0.076 0.183 1.000 0.715 0.998 0.697 13.515 0.608 . . . 0.9913 0.8773 0.9942 0.9999 1 1 0.9998 0.9960 0.9996 0.9673 0.8864 0.9916 1 1 1 0.9996 0.9929 hom 2385.24 72 2 196673533 . A G 2385.24 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.13;VQSLOD=14.1612;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2418,190,0 2 196681546 196681546 G A exonic DNAH7 synonymous SNV DNAH7:NM_018897:exon51:c.C9567T:p.A3189A 0.0022 . 0.0029 . 0.008 0.001 0.0056 0.0015 0.0019 0 0.0073 0.0084 0.0067 0.0015 0.0068 0.0013 0.0093 . 0.016 rs139963761 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0055 0.0014 0.0027 0.0081 5.802e-05 0.0065 0.0084 0.0055 0.0015 0.0073 0.0008 0.0036 0.0066 0 0.0083 0.0117 0.0092 het 1454.02 113 2 196681546 . G A 1454.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.661;DP=113;Dels=0.00;FS=3.473;HRun=0;HaplotypeScore=2.8637;MQ=59.35;MQ0=0;MQRankSum=0.618;QD=12.87;ReadPosRankSum=-0.612;VQSLOD=4.6121;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,58:113:99:1484,0,1515 2 196791276 196791276 T G exonic DNAH7 synonymous SNV DNAH7:NM_018897:exon22:c.A3486C:p.A1162A 0.48 0.093 0.58 0.56 0.65 0.68 0.5893 0.1613 0.5754 0.5713 0.6513 0.6347 0.6080 0.6539 0.49 0.18 0.62 0.38 0.6 rs1489802 COSM4417850 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455824.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5967 0.1615 0.5857 0.5269 0.5626 0.6617 0.6441 0.5804 0.6429 0.5130 0.1768 0.5671 0.5331 0.5535 0.6656 0.6582 0.6235 hom 2118.24 67 2 196791276 . T G 2118.24 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.62;VQSLOD=13.4245;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2151,163,0 2 196825238 196825238 C A exonic DNAH7 nonsynonymous SNV DNAH7:NM_018897:exon18:c.G2637T:p.M879I 0.012 0.003 0.02 . 0.035 0.0092 0.0296 0.0070 0.0120 0 0.0411 0.0431 0.0378 0.0109 0.029 0.0077 0.039 0.022 0.082 rs75001760 . . . . . . . . . . . . . 0.275 0.157 T 0.001 0.067 B 0.006 0.112 B 0.002 0.384 N 0.990 0.242 N 1.775 0.461 L 0.16 0.606 T -1.59 0.383 N 0.117 0.129 -1.032 0.199 T 0.045 0.194 T . . . 0.714 0.162 8.920 0.886 0.176 0.918 0.541 D c -0.258 -0.145 0.000 0.042 0.487 0.133 0 4.75 0.598 2.103 0.412 0.807 0.329 1.000 0.715 0.785 0.331 11.374 0.488 Dynein heavy chain\x2c domain-2 ENSG00000081320.6 Artery_Aorta 0.0285 0.0064 0.0123 0.0338 5.801e-05 0.0435 0.0418 0.0305 0.0120 0.0296 0.0069 0.0168 0.0430 0 0.0401 0.0435 0.0367 het 1386.54 123 2 196825238 . C A 1386.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.085;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9925;MQ=59.70;MQ0=0;MQRankSum=-0.259;QD=11.27;ReadPosRankSum=1.106;VQSLOD=6.0816;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,51:123:99:1417,0,2181 2 196851911 196851911 G A exonic DNAH7 nonsynonymous SNV DNAH7:NM_018897:exon14:c.C1633T:p.R545C 0.54 0.17 0.63 0.64 0.66 0.76 0.6312 0.2364 0.6478 0.6534 0.6710 0.6562 0.6498 0.7208 0.53 0.26 0.64 0.42 0.35 rs10931715 COSM4133349 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000455972.1 MedGen CN169374 . . . . . . 0.177 0.222 T 0.014 0.156 B 0.007 0.121 B 0.000 0.843 D 0.000 0.588 P 2.72 0.798 M 1.92 0.231 T -3.53 0.685 D 0.298 0.358 -0.992 0.322 T 0.000 0.000 T . . . 3.787 0.512 23.4 0.989 0.484 0.971 0.727 D c -0.012 0.113 0.031 0.140 0.487 0.133 0 4.86 0.625 4.984 0.633 0.154 0.240 1.000 0.715 0.996 0.625 9.738 0.394 . ENSG00000118997.9|ENSG00000118997.9|ENSG00000196950.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000196950.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000203435.2|ENSG00000118997.9|ENSG00000118997.9|ENSG00000118997.9|ENSG00000118997.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.6352 0.2349 0.6550 0.5986 0.6525 0.6746 0.6601 0.6204 0.7113 0.5451 0.2444 0.6360 0.5993 0.6430 0.6823 0.6659 0.6347 hom 733 24 2 196851911 . G A 733 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56.43;MQ0=0;QD=30.54;VQSLOD=8.6606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:60.19:766,60,0 2 196866420 196866420 C T exonic DNAH7 synonymous SNV DNAH7:NM_018897:exon11:c.G1152A:p.T384T 0.65 0.19 0.79 0.65 0.9 0.94 0.8282 0.2955 0.7692 0.6588 0.8993 0.9070 0.87 0.9255 0.73 0.34 0.91 0.51 0.86 rs6434811 COSM4417586;COSM4417587 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454893.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8339 0.2932 0.7780 0.8862 0.6570 0.9011 0.9092 0.8587 0.9211 0.7218 0.3180 0.7864 0.8642 0.6582 0.8970 0.9060 0.8684 hom 3559.17 123 2 196866420 . C T 3559.17 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=59.54;MQ0=0;QD=28.94;VQSLOD=8.6424;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3559,262,0 2 197004439 197004439 A G exonic STK17B synonymous SNV STK17B:NM_004226:exon7:c.T741C:p.I247I 0.7 0.58 0.73 0.9 0.65 0.7 0.6710 0.5841 0.7653 0.9053 0.6629 0.6378 0.6842 0.6732 0.61 0.58 0.62 0.66 0.6 rs1054537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6487 0.5614 0.7301 0.5633 0.8913 0.6636 0.6249 0.6168 0.6444 0.6495 0.5805 0.7076 0.6093 0.8933 0.6834 0.6512 0.6772 hom 5310.10 177 2 197004439 . A G 5310.10 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6208;MQ=59.00;MQ0=0;QD=30.00;VQSLOD=9.3084;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5310,403,0 2 197021276 197021276 T C exonic STK17B synonymous SNV STK17B:NM_004226:exon3:c.A222G:p.R74R 0.47 0.1 0.59 0.55 0.61 0.66 0.5650 0.1676 0.5956 0.5639 0.6091 0.6008 0.5969 0.6300 0.45 0.19 0.59 0.37 0.55 rs10931726 COSM4419254 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5730 0.1650 0.5967 0.5544 0.5555 0.6140 0.6047 0.5584 0.6234 0.4878 0.1789 0.5647 0.5497 0.5494 0.6228 0.6170 0.5959 hom 2566.51 79 2 197021276 . T C 2566.51 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=32.49;VQSLOD=9.1304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2600,199,0 2 197021372 197021372 T A exonic STK17B synonymous SNV STK17B:NM_004226:exon3:c.A126T:p.G42G 0.65 0.43 0.7 0.9 0.62 0.68 0.6387 0.4623 0.7502 0.9049 0.6411 0.6072 0.6582 0.6545 0.55 0.47 0.59 0.6 0.57 rs12478353 COSM4133352 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6451 0.4568 0.7420 0.5706 0.901 0.6489 0.6092 0.6217 0.6444 0.5938 0.4489 0.6909 0.5728 0.8937 0.6587 0.6223 0.6411 hom 2839.53 106 2 197021372 . T A 2839.53 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.07;MQ0=0;QD=26.79;VQSLOD=7.6908;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:2873,232,0 2 197118729 197118729 C T exonic HECW2 synonymous SNV HECW2:NM_001304840:exon17:c.G2376A:p.S792S,HECW2:NM_001348768:exon19:c.G3444A:p.S1148S,HECW2:NM_020760:exon19:c.G3444A:p.S1148S 0.97 0.9 0.99 1. 1. 1. 0.9913 0.9033 0.9974 0.9999 1 0.9998 0.9956 0.9998 0.97 0.91 1. 0.96 0.98 rs4850690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9933 0.9054 0.9955 1 0.9999 1 0.9998 0.9962 0.9998 0.9720 0.9022 0.9940 1 1 1 0.9997 0.9959 hom 2861.41 88 2 197118729 . C T 2861.41 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.52;VQSLOD=14.0829;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2894,229,0 2 197184321 197184321 C T exonic HECW2 synonymous SNV HECW2:NM_001304840:exon7:c.G225A:p.P75P,HECW2:NM_001348768:exon9:c.G1293A:p.P431P,HECW2:NM_020760:exon9:c.G1293A:p.P431P 0.73 0.39 0.82 0.97 0.83 0.77 0.7970 0.4603 0.8698 0.9715 0.8479 0.8171 0.7676 0.7662 0.69 0.46 0.81 0.65 0.89 rs1531111 COSM4133353 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8063 0.4496 0.8690 0.7852 0.9715 0.8417 0.8170 0.7883 0.7677 0.7272 0.4592 0.8544 0.8212 0.9660 0.8367 0.8170 0.8133 hom 4529.61 138 2 197184321 . C T 4529.61 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2859;MQ=59.56;MQ0=0;QD=32.82;VQSLOD=9.3603;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4529,352,0 2 197541296 197541296 G A exonic CCDC150 synonymous SNV CCDC150:NM_001080539:exon12:c.G1281A:p.E427E 0.071 0.097 0.088 0.006 0.13 0.029 0.1109 0.1043 0.0721 0.0045 0.1057 0.1482 0.1204 0.0465 0.12 0.094 0.13 0.11 . rs17271281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1042 0.1007 0.0693 0.1386 0.0057 0.1004 0.1431 0.1213 0.0475 0.1108 0.1022 0.0885 0.1159 0.0056 0.0945 0.1329 0.0990 het 449.94 44 2 197541296 . G A 449.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.844;DP=44;Dels=0.00;FS=3.516;HRun=1;HaplotypeScore=0.5784;MQ=59.48;MQ0=0;MQRankSum=0.675;QD=10.23;ReadPosRankSum=0.699;VQSLOD=6.5104;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,17:44:99:480,0,783 2 197870536 197870536 T C exonic ANKRD44 synonymous SNV ANKRD44:NM_001195144:exon21:c.A2229G:p.A743A 0.0004 . 0.0014 . 0.001 . 0.0012 0.0003 0.0003 0 0.0005 0.0020 0.0011 6.058e-05 0.0013 0.0002 0.0019 . . rs149494060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0003 0.0002 0.0020 0 0.0004 0.0025 0.0009 3.249e-05 0.0017 0.0005 0 0.0033 0 0.0003 0.0030 0.0020 het 3072.42 249 2 197870536 . T C 3072.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.083;DP=249;DS;Dels=0.00;FS=0.513;HRun=1;HaplotypeScore=0.8667;MQ=59.61;MQ0=0;MQRankSum=-0.967;QD=12.34;ReadPosRankSum=-0.105;VQSLOD=4.7726;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,122:249:99:3102,0,3539 2 198257795 198257795 T C exonic SF3B1 synonymous SNV SF3B1:NM_012433:exon24:c.A3657G:p.V1219V 0.72 0.88 0.63 0.52 0.73 0.75 0.6717 0.8417 0.4710 0.5433 0.5823 0.6850 0.6843 0.7534 0.74 0.83 0.69 0.76 0.72 rs4685 COSM3757859 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6584 0.8408 0.4935 0.7520 0.5357 0.5779 0.6813 0.6981 0.7549 0.6804 0.8292 0.5299 0.7517 0.5310 0.5539 0.6499 0.6245 het 1296.28 78 2 198257795 . T C 1296.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.164;DP=78;Dels=0.00;FS=11.736;HRun=0;HaplotypeScore=5.9106;MQ=57.45;MQ0=0;MQRankSum=0.781;QD=16.62;ReadPosRankSum=-0.327;VQSLOD=2.4166;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:34,44:78:99:1326,0,892 2 198265526 198265526 A G exonic SF3B1 synonymous SNV SF3B1:NM_012433:exon18:c.T2631C:p.G877G 0.72 0.88 0.63 0.51 0.73 0.76 0.6708 0.8393 0.4700 0.5361 0.5826 0.6847 0.6843 0.7542 0.74 0.83 0.69 0.75 0.71 rs788018 COSM3757860 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6579 0.8383 0.4928 0.7484 0.5294 0.5784 0.6814 0.6977 0.7563 0.6806 0.8284 0.5310 0.7450 0.5255 0.5545 0.6510 0.6301 het 852.55 101 2 198265526 . A G 852.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.278;DP=101;Dels=0.00;FS=1.692;HRun=0;HaplotypeScore=2.8922;MQ=59.36;MQ0=0;MQRankSum=0.585;QD=8.44;ReadPosRankSum=-1.300;VQSLOD=5.9838;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,38:101:99:883,0,1747 2 198283305 198283305 T C exonic SF3B1 synonymous SNV SF3B1:NM_012433:exon5:c.A423G:p.K141K 0.72 0.89 0.63 0.52 0.73 0.76 0.6725 0.8514 0.4710 0.5384 0.5826 0.6851 0.6865 0.7551 0.74 0.85 0.68 0.77 0.71 rs788023 COSM1129389 1(breast);2(haematopoietic_and_lymphoid_tissue);20(soft_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6584 0.8507 0.4923 0.7486 0.5316 0.5780 0.6812 0.6971 0.7554 0.6838 0.8395 0.5311 0.7450 0.5273 0.5554 0.6508 0.6281 het 1021.90 79 2 198283305 . T C 1021.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.035;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8658;MQ=59.53;MQ0=0;MQRankSum=-1.839;QD=12.94;ReadPosRankSum=-0.456;VQSLOD=5.6748;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,40:79:99:1052,0,960 2 198327314 198327314 G A exonic COQ10B synonymous SNV COQ10B:NM_001320818:exon2:c.G156A:p.K52K,COQ10B:NM_001320819:exon3:c.G222A:p.K74K,COQ10B:NM_001320820:exon3:c.G177A:p.K59K,COQ10B:NM_025147:exon3:c.G306A:p.K102K 0.15 0.053 0.17 0.23 0.22 0.095 0.1741 0.0755 0.1959 0.2470 0.1859 0.1892 0.2026 0.1152 0.16 0.086 0.2 0.13 0.18 rs3754822 COSM4417326 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1758 0.0711 0.1866 0.2292 0.2413 0.1845 0.1855 0.2031 0.1135 0.1547 0.0758 0.1899 0.2318 0.2602 0.1796 0.1795 0.1612 het 947.67 76 2 198327314 . G A 947.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.818;DP=76;Dels=0.00;FS=5.731;HRun=2;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=0.695;QD=12.47;ReadPosRankSum=-0.162;VQSLOD=5.7475;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,34:76:99:978,0,1184 2 198362018 198362018 T C exonic HSPD1 synonymous SNV HSPD1:NM_002156:exon3:c.A273G:p.K91K,HSPD1:NM_199440:exon3:c.A273G:p.K91K 0.65 0.75 0.62 0.47 0.73 0.67 0.6490 0.7158 0.4642 0.5216 0.5817 0.6834 0.6707 0.6898 0.7 0.72 0.68 0.72 0.72 rs8539 COSM3757863;COSM3757861;COSM3757862 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Spastic_Paraplegia\x2c_Dominant RCV000117240.3|RCV000291547.1 MedGen|MedGen CN169374|CN239430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6396 0.7138 0.4872 0.7455 0.5154 0.5780 0.6800 0.6876 0.6946 0.6448 0.7100 0.5227 0.7417 0.5093 0.5544 0.6491 0.6176 het 2311.94 165 2 198362018 . T C 2311.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.626;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=2.024;QD=14.01;ReadPosRankSum=-0.644;VQSLOD=6.3032;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,86:165:99:2342,0,2145 2 198508951 198508951 G A exonic RFTN2 synonymous SNV RFTN2:NM_144629:exon3:c.C369T:p.L123L 0.68 0.87 0.62 0.46 0.74 0.64 0.6600 0.8390 0.4734 0.5003 0.5984 0.6912 0.6784 0.6591 0.74 0.83 0.69 0.71 0.75 rs10497806 COSM3757865 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6487 0.8370 0.4978 0.7580 0.4903 0.5929 0.6873 0.6912 0.6658 0.6835 0.8290 0.5371 0.7384 0.4789 0.5683 0.6585 0.6265 het 1317.42 103 2 198508951 . G A 1317.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.919;DP=103;Dels=0.00;FS=2.601;HRun=1;HaplotypeScore=2.6949;MQ=59.33;MQ0=0;MQRankSum=0.439;QD=12.79;ReadPosRankSum=0.327;VQSLOD=6.6667;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,53:103:99:1347,0,1270 2 198950240 198950240 G A exonic PLCL1 nonsynonymous SNV PLCL1:NM_006226:exon2:c.G1999A:p.V667I 0.38 0.24 0.4 0.21 0.52 0.57 0.4477 0.2932 0.2553 0.2223 0.3943 0.5025 0.4745 0.5934 0.43 0.3 0.49 0.38 0.45 rs1064213 COSM3736232;COSM3736233 1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.005 0.654 D 1.0 0.899 D 0.995 0.818 D 0.001 0.406 N 0.000 0.588 P 3.145 0.885 M -0.02 0.629 T -0.97 0.258 N 0.246 0.364 -0.928 0.445 T 0.000 0.000 T . . . 5.444 0.739 26.1 0.998 0.910 0.989 0.889 D c 0.922 0.884 1.000 0.747 0.638 0.428 0 5.36 0.765 9.989 0.992 1.048 0.713 1.000 0.715 0.996 0.625 19.291 0.941 PLC-like phosphodiesterase\x2c TIM beta/alpha-barrel domain|Phospholipase C\x2c phosphatidylinositol-specific\x2c Y domain ENSG00000162944.6|ENSG00000162944.6|ENSG00000115896.11 Adipose_Subcutaneous|Lung|Whole_Blood 0.4380 0.2836 0.2822 0.5189 0.2157 0.3888 0.4983 0.4646 0.5950 0.3873 0.2853 0.3198 0.5099 0.1865 0.3663 0.4721 0.4216 het 701.89 67 2 198950240 . G A 701.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.646;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.548;QD=10.48;ReadPosRankSum=-0.952;VQSLOD=11.6351;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,30:67:99:732,0,1085 2 200790216 200790216 C T exonic C2orf69 synonymous SNV C2orf69:NM_153689:exon2:c.C765T:p.D255D 0.077 0.0023 0.089 0.17 0.026 0.13 0.0576 0.0071 0.1177 0.1707 0.0160 0.0333 0.0435 0.1009 0.027 0.0092 0.035 0.043 . rs12476690 COSM4001459 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0594 0.0069 0.1144 0.0277 0.1644 0.0176 0.0346 0.0474 0.0988 0.0310 0.0086 0.0955 0.0132 0.1576 0.0143 0.0314 0.0266 het 1196.64 108 2 200790216 . C T 1196.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.758;DP=108;Dels=0.00;FS=3.570;HRun=0;HaplotypeScore=2.6000;MQ=59.61;MQ0=0;MQRankSum=0.790;QD=11.08;ReadPosRankSum=0.265;VQSLOD=5.5613;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,49:108:99:1227,0,1447 2 200813126 200813126 T C exonic TYW5 nonsynonymous SNV TYW5:NM_001039693:exon2:c.A148G:p.S50G 0.075 0.0023 0.089 0.15 0.026 0.14 0.0559 0.0069 0.1193 0.1483 0.0156 0.0331 0.0422 0.1012 0.027 0.009 0.035 0.043 0.041 rs10497844 COSM5958401 1(thyroid) . . . . . . . . . . . 0.095 0.312 T 0.2 0.280 B 0.034 0.241 B 0.013 0.291 U 0.150 0.352 P 2.89 0.840 M -0.57 0.713 T -2.44 0.534 N 0.232 0.284 -1.012 0.264 T 0.001 0.004 T . . . 1.205 0.211 11.77 0.993 0.571 0.690 0.338 D c -0.166 -0.082 0.987 0.312 0.707 0.730 0 4.94 0.645 0.613 0.238 1.061 0.807 0.752 0.289 0.998 0.697 14.750 0.690 . . . 0.0578 0.0069 0.1156 0.0278 0.1405 0.0172 0.0346 0.0469 0.0989 0.0295 0.0086 0.0990 0.0132 0.1270 0.0135 0.0316 0.0265 het 1411.02 120 2 200813126 . T C 1411.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.211;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=58.55;MQ0=0;MQRankSum=0.980;QD=11.76;ReadPosRankSum=-0.590;VQSLOD=6.2886;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,55:120:99:1441,0,1606 2 201253956 201253956 A G exonic SPATS2L nonsynonymous SNV SPATS2L:NM_001282744:exon3:c.A79G:p.T27A 0.23 0.18 0.19 0.15 0.31 0.34 0.3886 0.2667 0.3929 0.2640 0.3828 0.4303 0.3710 0.3629 0.28 0.19 0.32 0.3 . rs842823 COSM149038 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . 0.103 0.301 T 0.018 0.165 B 0.01 0.139 B . . . 1.000 0.588 P . . . . . . -0.75 0.210 N 0.178 0.217 -0.991 0.324 T 0.000 0.000 T . . . 2.185 0.324 17.41 0.979 0.364 0.206 0.209 N c -0.602 -0.572 1.000 0.407 0.706 0.609 0 -0.499 0.114 0.200 0.169 0.157 0.243 0.377 0.258 0.987 0.523 7.664 0.274 UBA-like . . 0.2770 0.1852 0.1918 0.3424 0.1426 0.3051 0.3144 0.2858 0.3227 0.2737 0.1942 0.2105 0.3543 0.1578 0.3066 0.3257 0.2882 hom 498.63 18 2 201253956 . A G 498.63 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.70;VQSLOD=14.0421;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:45.12:532,45,0 2 201355106 201355106 G A exonic KCTD18 nonsynonymous SNV KCTD18:NM_001321547:exon7:c.C998T:p.A333V,KCTD18:NM_001321548:exon7:c.C371T:p.A124V,KCTD18:NM_001321550:exon7:c.C371T:p.A124V,KCTD18:NM_152387:exon7:c.C998T:p.A333V 0.099 0.039 0.14 0.002 0.23 0.11 0.1756 0.0629 0.1043 0.0005 0.1835 0.2380 0.2126 0.1306 0.17 0.068 0.23 0.087 0.25 rs13018579 COSM3757866 1(pancreas);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.598 0.057 T 0.02 0.170 B 0.018 0.173 B 0.370 0.044 N 1 0.090 P 0 0.065 N 1.32 0.352 T -0.22 0.105 N 0.039 0.019 -1.027 0.213 T 0.000 0.000 T . . . 1.008 0.190 10.71 0.984 0.402 0.239 0.220 N c -1.059 -1.026 0.996 0.346 0.707 0.730 0 2.38 0.283 2.302 0.431 -0.033 0.126 0.031 0.203 0.001 0.043 6.697 0.222 . . . 0.1758 0.0606 0.1121 0.2938 0.0004 0.1874 0.2363 0.2147 0.1282 0.1625 0.0664 0.1456 0.3046 0.0006 0.1842 0.2282 0.1748 het 1437.57 93 2 201355106 . G A 1437.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.052;DP=93;Dels=0.00;FS=20.875;HRun=0;HaplotypeScore=3.2165;MQ=59.50;MQ0=0;MQRankSum=-0.841;QD=15.46;ReadPosRankSum=0.262;VQSLOD=2.2938;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,53:93:99:1468,0,1040 2 201437328 201437328 C A exonic SGO2 synonymous SNV SGO2:NM_001160033:exon7:c.C2259A:p.I753I,SGO2:NM_001160046:exon7:c.C2259A:p.I753I,SGO2:NM_152524:exon7:c.C2259A:p.I753I 0.21 0.16 0.2 0.29 0.25 0.16 0.2296 0.1500 0.1946 0.2969 0.2288 0.2521 0.2422 0.1748 0.21 0.14 0.25 0.24 0.27 rs35987478 COSM3757870 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2292 0.1434 0.1948 0.3056 0.2986 0.2289 0.2473 0.2499 0.1769 0.2193 0.1519 0.2265 0.2781 0.3075 0.2168 0.2475 0.2300 het 93.01 24 2 201437328 . C A 93.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.995;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=58.13;MQ0=0;MQRankSum=-0.284;QD=3.88;ReadPosRankSum=1.422;VQSLOD=4.3839;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,5:24:99:123,0,504 2 201437334 201437334 T C exonic SGO2 synonymous SNV SGO2:NM_001160033:exon7:c.T2265C:p.P755P,SGO2:NM_001160046:exon7:c.T2265C:p.P755P,SGO2:NM_152524:exon7:c.T2265C:p.P755P 0.73 0.7 0.66 0.81 0.8 0.64 0.7516 0.6897 0.6577 0.8069 0.7719 0.7880 0.7780 0.6681 0.76 0.7 0.79 0.76 0.71 rs12052989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7490 0.6886 0.6616 0.7974 0.8062 0.7756 0.7843 0.7793 0.6743 0.7575 0.6965 0.7062 0.7980 0.8112 0.7698 0.7857 0.7689 het 126.91 28 2 201437334 . T C 126.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.849;DP=28;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.7887;MQ=57.55;MQ0=0;MQRankSum=0.478;QD=4.53;ReadPosRankSum=0.106;VQSLOD=4.9893;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,7:28:99:157,0,578 2 201521609 201521609 C T exonic AOX1 synonymous SNV AOX1:NM_001159:exon27:c.C3120T:p.V1040V 0.002 . 0.0014 . 0.0089 . 0.0037 0.0009 0.0010 0 0.0027 0.0060 0.0022 0.0006 0.0051 0.0005 0.0074 0.022 . rs114924183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0008 0.0008 0.0001 0 0.0037 0.0062 0.0020 0.0005 0.0035 0.0016 0.0012 0 0 0.0029 0.0053 0.0051 het 1335.68 110 2 201521609 . C T 1335.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.422;DP=110;Dels=0.00;FS=1.615;HRun=1;HaplotypeScore=5.9873;MQ=59.07;MQ0=0;MQRankSum=0.520;QD=12.14;ReadPosRankSum=0.658;VQSLOD=4.9493;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,57:110:99:1366,0,1394 2 202122995 202122995 A G exonic CASP8 nonsynonymous SNV CASP8:NM_001080125:exon1:c.A41G:p.K14R 0.65 0.59 0.59 0.7 0.69 0.67 0.6673 0.5770 0.5401 0.7112 0.6449 0.6974 0.6378 0.6761 0.67 0.59 0.71 0.62 0.64 rs3769823 COSM4133375 1(thyroid);1(large_intestine) Benign not_specified RCV000455301.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.008 0.135 B 0.015 0.162 B 0.000 0.003 U 1 0.202 P . . . 4.26 0.026 T 0.1 0.058 N 0.066 0.058 -0.995 0.313 T 0.000 0.000 T . . . -0.732 0.043 0.061 0.974 0.332 0.181 0.199 N c -0.907 -0.875 1.000 0.747 0.267 0.040 1 2.78 0.316 1.727 0.375 0.107 0.202 0.989 0.365 0.001 0.043 6.134 0.193 Death effector domain|Death-like domain ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000003400.10|ENSG00000155749.8|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.6601 0.5765 0.5388 0.5754 0.7091 0.6480 0.7057 0.6466 0.6796 0.6618 0.5774 0.5658 0.6167 0.7326 0.6444 0.7127 0.6714 het 1928.74 167 2 202122995 . A G 1928.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.447;DP=167;DS;Dels=0.00;FS=0.592;HRun=0;HaplotypeScore=2.6653;MQ=59.72;MQ0=0;MQRankSum=0.602;QD=11.55;ReadPosRankSum=-0.105;VQSLOD=6.6120;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,73:167:99:1959,0,2629 2 202215492 202215492 C G exonic ALS2CR12 nonsynonymous SNV ALS2CR12:NM_001127391:exon3:c.G127C:p.V43L,ALS2CR12:NM_001289993:exon3:c.G127C:p.V43L,ALS2CR12:NM_139163:exon3:c.G127C:p.V43L 0.71 0.79 0.5 0.73 0.61 0.84 0.6339 0.7486 0.4927 0.7314 0.5797 0.5966 0.5973 0.7839 0.65 0.75 0.59 0.74 0.51 rs13014235 COSM5765844 1(large_intestine) . . . . . . . . . . . 0.997 0.023 T 0.0 0.026 B 0.0 0.013 B 0.231 0.035 N 1 0.090 P -1.735 0.003 N 1.06 0.398 T 0.66 0.023 N 0.016 0.020 -0.984 0.340 T 0.000 0.000 T . . . -1.108 0.028 0.010 0.143 0.003 0.002 0.009 N c -1.443 -1.394 0.013 0.124 0.554 0.283 0 -0.808 0.103 -1.060 0.036 0.136 0.221 0.001 0.137 0.417 0.257 6.575 0.216 . ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000064012.17|ENSG00000064012.17|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.6207 0.7522 0.4833 0.5471 0.7343 0.5740 0.5992 0.5821 0.7832 0.6456 0.7449 0.5048 0.5596 0.7593 0.5734 0.6049 0.6010 het 655.73 55 2 202215492 . C G 655.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.800;DP=55;Dels=0.00;FS=1.038;HRun=0;HaplotypeScore=0.0000;MQ=57.71;MQ0=0;MQRankSum=-1.557;QD=11.92;ReadPosRankSum=-0.513;VQSLOD=4.2567;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,28:55:99:686,0,732 2 202252478 202252478 A G exonic TRAK2 synonymous SNV TRAK2:NM_015049:exon13:c.T1644C:p.S548S 0.021 0.0038 0.052 . 0.059 0.0031 0.0399 0.0085 0.0326 0 0.0431 0.0583 0.0386 0.0094 0.044 0.0093 0.062 0.033 0.041 rs35620793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0403 0.0088 0.0357 0.0887 5.803e-05 0.0385 0.0565 0.0566 0.0084 0.0355 0.0105 0.0407 0.0828 0 0.0384 0.0519 0.0356 het 1229.85 144 2 202252478 . A G 1229.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.060;DP=144;Dels=0.00;FS=9.955;HRun=0;HaplotypeScore=4.7620;MQ=59.70;MQ0=0;MQRankSum=-0.481;QD=8.54;ReadPosRankSum=-0.169;VQSLOD=3.5226;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,49:144:99:1260,0,2559 2 202252539 202252539 G A exonic TRAK2 nonsynonymous SNV TRAK2:NM_015049:exon13:c.C1583T:p.T528I 0.24 0.21 0.39 0.24 0.31 0.09 0.2836 0.2331 0.4107 0.2410 0.3337 0.3091 0.3051 0.1247 0.28 0.23 0.3 0.28 0.3 rs2244438 COSM3757879 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.052 0.390 T 0.082 0.231 B 0.03 0.205 B 0.110 0.195 N 0.926 0.271 P 2.625 0.771 M 0.9 0.453 T -2.34 0.518 N 0.055 0.037 -0.992 0.321 T 0.000 0.000 T . . . 2.148 0.319 17.17 0.982 0.382 0.211 0.211 N c -0.429 -0.445 0.184 0.179 0.732 0.924 0 4.07 0.466 2.064 0.408 0.143 0.228 0.029 0.202 0.041 0.157 10.478 0.437 Trafficking kinesin-binding protein domain ENSG00000064012.17|ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000115993.7|ENSG00000064012.17 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.2938 0.2309 0.4153 0.3292 0.2392 0.3380 0.3073 0.3283 0.1249 0.2810 0.2279 0.3933 0.3344 0.2157 0.3423 0.2956 0.3082 het 1498.17 147 2 202252539 . G A 1498.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.654;DP=147;Dels=0.00;FS=5.282;HRun=0;HaplotypeScore=4.0969;MQ=59.84;MQ0=0;MQRankSum=0.425;QD=10.19;ReadPosRankSum=0.335;VQSLOD=4.8826;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,63:147:99:1528,0,2469 2 202260049 202260049 G A exonic TRAK2 synonymous SNV TRAK2:NM_015049:exon8:c.C888T:p.H296H 0.97 0.91 0.99 1. 1. 1. 0.9924 0.9206 0.9938 1 1 0.9998 0.9923 1 0.97 0.92 1. 0.99 1. rs2256584 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9939 0.9182 0.9943 1 1 1 0.9997 0.9954 0.9999 0.9779 0.9230 0.9869 1 1 1 1 0.9980 hom 4484.64 143 2 202260049 . G A 4484.64 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4258;MQ=58.88;MQ0=0;QD=31.36;VQSLOD=9.2963;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4484,361,0 2 202264156 202264156 C T exonic TRAK2 nonsynonymous SNV TRAK2:NM_015049:exon5:c.G424A:p.V142I 0.54 0.35 0.56 0.49 0.66 0.7 0.6229 0.3698 0.5585 0.5013 0.6546 0.6709 0.6355 0.6834 0.57 0.37 0.67 0.49 0.63 rs13022344 COSM3757880 2(large_intestine) . . . . . . . . . . . 0.452 0.165 T 0.0 0.102 B 0.001 0.127 B 0.015 0.284 N 0.906 0.276 P 0.915 0.234 L 2.19 0.187 T -0.47 0.164 N 0.061 0.045 -0.988 0.331 T 0.000 0.000 T . . . 2.425 0.353 18.98 0.978 0.353 0.846 0.434 D c -0.315 -0.093 1.000 0.517 0.706 0.609 0 5.2 0.716 1.866 0.389 0.059 0.165 1.000 0.715 1.000 0.888 6.063 0.189 HAP1\x2c N-terminal ENSG00000064012.17|ENSG00000064012.17|ENSG00000155749.8|ENSG00000155749.8|ENSG00000155749.8|ENSG00000064012.17|ENSG00000115993.7|ENSG00000064012.17 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.6220 0.3667 0.5532 0.6154 0.4994 0.6496 0.6740 0.6169 0.6870 0.5831 0.3818 0.5624 0.6133 0.5112 0.6471 0.6897 0.6418 het 952.82 75 2 202264156 . C T 952.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.424;DP=75;Dels=0.00;FS=0.886;HRun=0;HaplotypeScore=2.9903;MQ=58.31;MQ0=0;MQRankSum=1.863;QD=12.70;ReadPosRankSum=0.624;VQSLOD=5.5942;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,42:75:99:983,0,854 2 202410300 202410300 A T exonic C2CD6 nonsynonymous SNV C2CD6:NM_001168216:exon11:c.T1128A:p.H376Q,C2CD6:NM_001168217:exon11:c.T1128A:p.H376Q,C2CD6:NM_001168221:exon11:c.T1128A:p.H376Q,C2CD6:NM_152525:exon11:c.T1128A:p.H376Q 0.51 0.32 0.56 0.76 0.46 0.55 0.4651 0.3339 0.6189 0.7403 0.4802 0.4128 0.4403 0.5007 0.38 0.33 0.41 0.42 0.3 rs10804117 . . . . . . . . . . . . . 1.0 0.044 T 0.0 0.026 B 0.0 0.013 B 0.003 0.010 N 1 0.090 P -0.345 0.033 N 1.08 0.394 T 0.59 0.026 N 0.044 0.024 -0.989 0.328 T 0.000 0.000 T . . . -2.575 0.003 0.001 0.307 0.017 0.000 0.002 N c -2.100 -2.129 0.001 0.075 0.487 0.133 0 -6.45 0.017 -2.124 0.014 -0.967 0.023 0.000 0.063 0.000 0.016 0.481 0.005 . ENSG00000234842.1|ENSG00000234842.1|ENSG00000224299.1|ENSG00000234842.1|ENSG00000224299.1|ENSG00000224299.1|ENSG00000155754.10|ENSG00000155755.14|ENSG00000224299.1|ENSG00000234842.1|ENSG00000234842.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Thyroid 0.4506 0.3166 0.5837 0.4190 0.7209 0.4780 0.4013 0.4360 0.4760 0.4095 0.3332 0.5653 0.4178 0.7357 0.4356 0.4037 0.4464 het 982.33 92 2 202410300 . A T 982.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.519;DP=92;Dels=0.00;FS=3.991;HRun=1;HaplotypeScore=1.9780;MQ=57.70;MQ0=0;MQRankSum=-0.644;QD=10.68;ReadPosRankSum=-0.332;VQSLOD=4.4110;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,46:92:99:1012,0,1057 2 202469361 202469361 C T exonic C2CD6 synonymous SNV C2CD6:NM_001168216:exon2:c.G291A:p.T97T,C2CD6:NM_001168217:exon2:c.G291A:p.T97T,C2CD6:NM_001168221:exon2:c.G291A:p.T97T,C2CD6:NM_152525:exon2:c.G291A:p.T97T 0.98 0.92 0.99 1. 1. 1. 0.9936 0.9437 0.9940 1 1 0.9984 0.9901 0.9993 0.98 0.94 1. 0.99 1. rs12474206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9942 0.9389 0.9940 0.9823 0.9999 1 0.9993 0.9940 0.9992 0.9827 0.9407 0.9893 0.9967 1 1 0.9997 0.9969 hom 2736.92 98 2 202469361 . C T 2736.92 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=27.93;VQSLOD=8.0739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:2770,220,0 2 202557702 202557702 C T exonic MPP4 nonsynonymous SNV MPP4:NM_033066:exon3:c.G130A:p.G44S 0.97 0.91 0.99 1. 1. 1. 0.9924 0.9146 0.9936 1 1 0.9998 0.9955 1 0.97 0.91 1. 0.98 . rs6725443 COSM4133377;COSM4133379;COSM4133378 1(thyroid) . . . . . . . . . . . 1.0 0.032 T 0.0 0.131 B 0.001 0.080 B 0.000 0.469 N 1.000 0.090 P -2.24 0.001 N 3.65 0.043 T 1.87 0.006 N 0.224 0.275 -0.987 0.333 T 0.000 0.000 T . . . 1.638 0.258 14.06 0.943 0.241 0.079 0.137 N c -0.819 -0.582 1.000 0.432 0.651 0.465 0 3.92 0.444 1.687 0.371 0.154 0.240 1.000 0.715 0.995 0.604 7.107 0.244 L27 domain . . 0.9937 0.9111 0.9955 1 1 1 0.9999 0.9947 0.9999 0.9757 0.9149 0.9952 1 1 1 0.9997 0.9980 hom 1157.66 38 2 202557702 . C T 1157.66 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=57.36;MQ0=1;QD=30.46;VQSLOD=7.4318;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:90.29:1191,90,0 2 202575821 202575821 G A exonic ALS2 synonymous SNV ALS2:NM_020919:exon26:c.C4015T:p.L1339L 0.91 0.81 0.89 0.97 0.92 0.97 0.9232 0.8239 0.8948 0.9849 0.9566 0.9222 0.9308 0.9603 0.89 0.82 0.92 0.88 0.9 rs3219168 . . Benign|Benign|Benign not_specified|Amyotrophic_Lateral_Sclerosis\x2c_Recessive|ALS2-Related_Spectrum_Disorders RCV000250217.1|RCV000283291.1|RCV000347093.1 MedGen|MedGen|MedGen CN169374|CN239196|CN239188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9231 0.8194 0.8928 0.9163 0.9861 0.9544 0.9213 0.9141 0.9602 0.8989 0.8209 0.8950 0.9073 0.9858 0.9553 0.9203 0.9202 het 923.11 97 2 202575821 . G A 923.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.075;DP=97;Dels=0.00;FS=0.802;HRun=1;HaplotypeScore=1.9328;MQ=59.23;MQ0=0;MQRankSum=-0.940;QD=9.52;ReadPosRankSum=-1.277;VQSLOD=5.9793;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,38:97:99:953,0,1502 2 202625615 202625615 C T exonic ALS2 nonsynonymous SNV ALS2:NM_001135745:exon4:c.G1102A:p.V368M,ALS2:NM_020919:exon4:c.G1102A:p.V368M 0.9 0.76 0.93 1. 0.9 0.95 0.9106 0.7836 0.9351 0.9999 0.9241 0.9018 0.9154 0.9519 0.86 0.78 0.9 0.87 0.85 rs3219156 . . Benign|Benign|Benign not_specified|ALS2-Related_Spectrum_Disorders|Amyotrophic_Lateral_Sclerosis\x2c_Recessive RCV000243956.1|RCV000269440.1|RCV000326864.1 MedGen|MedGen|MedGen CN169374|CN239188|CN239196 . . . . . . 0.191 0.226 T 0.006 0.126 B 0.009 0.133 B 0.335 0.042 N 1 0.090 P 0.55 0.145 N 0.48 0.560 T -0.06 0.098 N 0.018 0.015 -0.997 0.307 T 0.000 0.000 T . . . -0.888 0.036 0.027 0.504 0.043 0.056 0.113 N c -2.048 -2.020 0.499 0.209 0.706 0.609 0 -3.78 0.040 -1.951 0.016 -3.533 0.001 0.000 0.063 0.001 0.043 8.714 0.334 . . . 0.9130 0.7821 0.9345 0.9028 0.9998 0.9213 0.9001 0.9040 0.9511 0.8691 0.7876 0.9129 0.8940 0.9994 0.9235 0.8846 0.9033 het 1830.55 130 2 202625615 . C T 1830.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.874;DP=130;Dels=0.00;FS=0.947;HRun=1;HaplotypeScore=3.1473;MQ=59.32;MQ0=0;MQRankSum=-1.127;QD=14.08;ReadPosRankSum=1.491;VQSLOD=5.7588;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,67:130:99:1861,0,1673 2 203820453 203820453 T C exonic CARF nonsynonymous SNV CARF:NM_001282912:exon5:c.T350C:p.I117T,CARF:NM_001282910:exon6:c.T386C:p.I129T,CARF:NM_001322429:exon6:c.T578C:p.I193T,CARF:NM_001104586:exon7:c.T614C:p.I205T,CARF:NM_001282911:exon7:c.T386C:p.I129T,CARF:NM_001322428:exon7:c.T614C:p.I205T,CARF:NM_001322427:exon8:c.T614C:p.I205T,CARF:NM_024744:exon8:c.T614C:p.I205T . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.401 0.574 T 0.001 0.331 B 0.002 0.362 B 0.239 0.157 N 0.998 0.226 N -1.245 0.008 N . . . -0.39 0.187 N 0.074 0.134 -1.022 0.231 T 0.027 0.117 T 0.002 0.027 T 0.925 0.182 10.22 0.722 0.096 0.423 0.266 N c -0.517 -0.313 0.003 0.097 0.638 0.428 0 3.62 0.405 1.988 0.401 0.913 0.425 0.981 0.351 0.995 0.604 5.711 0.171 . . . . . . . . . . . . . . . . . . . . het 487.80 56 2 203820453 . T C 487.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.102;DP=56;Dels=0.00;FS=5.429;HRun=0;HaplotypeScore=3.4885;MQ=59.33;MQ0=0;MQRankSum=-0.176;QD=8.71;ReadPosRankSum=0.310;VQSLOD=3.1909;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,22:56:99:518,0,876 2 204001482 204001482 A G exonic NBEAL1 nonsynonymous SNV NBEAL1:NM_001114132:exon28:c.A4463G:p.D1488G 0.0002 . 0.0014 . . . 5.823e-05 0 0.0003 0 0 3.003e-05 0.0011 0 . . . . . rs182954834 . . . . . . . . . . . . . 0.176 0.223 T 0.976 0.564 D 0.612 0.493 P 0.588 0.111 N 1.000 0.548 D 2.56 0.750 M 0.43 0.568 T -5.61 0.867 D 0.398 0.457 -0.820 0.540 T 0.233 0.600 T 0.040 0.591 D 3.884 0.524 23.5 0.998 0.921 0.995 0.972 D c 0.336 0.357 0.270 0.189 0.651 0.465 0 4.78 0.605 7.111 0.765 0.203 0.253 1.000 0.715 1.000 0.888 13.064 0.583 . . . 4.087e-05 0 0.0002 0 0 0 1.801e-05 0.0002 0 . . . . . . . . het 2228.33 201 2 204001482 . A G 2228.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.744;DP=201;Dels=0.00;FS=2.460;HRun=1;HaplotypeScore=2.8729;MQ=59.35;MQ0=0;MQRankSum=0.575;QD=11.09;ReadPosRankSum=0.767;VQSLOD=4.7912;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,94:201:99:2258,0,2707 2 204062061 204062061 A G exonic NBEAL1 nonsynonymous SNV NBEAL1:NM_001114132:exon47:c.A6988G:p.I2330V 0.86 0.63 0.94 0.92 0.96 0.95 0.9359 0.7055 0.9489 0.9240 0.9681 0.9634 0.9588 0.9445 0.89 0.74 0.96 0.86 0.95 rs4675323 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1.000 0.210 P -1.945 0.002 N 0.82 0.481 T 0.65 0.024 N 0.014 0.009 -0.949 0.412 T 0.000 0.000 T . . . 0.486 0.141 7.323 0.315 0.018 0.128 0.173 N c -0.881 -0.580 0.001 0.086 0.651 0.465 0 3.88 0.438 5.251 0.650 -0.739 0.035 1.000 0.715 0.640 0.296 10.134 0.417 . ENSG00000163596.12 Brain_Caudate_basal_ganglia 0.9401 0.7030 0.9457 0.9684 0.9251 0.9678 0.9624 0.9559 0.9469 0.8939 0.7142 0.9535 0.9603 0.9106 0.9713 0.9688 0.9704 hom 2395.45 86 2 204062061 . A G 2395.45 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;QD=27.85;VQSLOD=8.0571;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2428,193,0 2 204116690 204116690 C T exonic CYP20A1 nonsynonymous SNV CYP20A1:NM_177538:exon4:c.C290T:p.S97L 0.87 0.66 0.94 0.93 0.96 0.95 0.9364 0.7209 0.9501 0.9269 0.9682 0.9633 0.9570 0.9441 0.89 0.74 0.97 0.75 0.83 rs2043449 . . . . . . . . . . . . . 0.662 0.047 T 0.0 0.090 B 0.001 0.063 B 0.041 0.239 N 0.735 0.298 P 0.22 0.096 N -0.41 0.694 T -0.76 0.212 N 0.117 0.294 -0.970 0.373 T 0.000 0.000 T . . . 0.660 0.157 8.565 0.382 0.025 0.144 0.182 N c -1.718 -1.709 0.818 0.244 0.732 0.924 0 -5.93 0.021 -0.098 0.109 -2.020 0.005 0.152 0.235 0.966 0.452 15.475 0.751 . ENSG00000163596.12 Brain_Caudate_basal_ganglia 0.9423 0.7156 0.9476 0.9709 0.9300 0.9680 0.9620 0.9581 0.9466 0.8982 0.7291 0.9550 0.9636 0.9143 0.9713 0.9684 0.9711 hom 2669.26 88 2 204116690 . C T 2669.26 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.33;VQSLOD=14.2267;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2702,220,0 2 204154552 204154552 C T exonic CYP20A1 nonsynonymous SNV CYP20A1:NM_177538:exon10:c.C1036T:p.L346F 0.4 0.15 0.44 0.32 0.56 0.63 0.5027 0.2094 0.4512 0.2977 0.4666 0.5599 0.5132 0.6133 0.45 0.22 0.56 0.39 0.52 rs1048013 COSM4419542 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.11 0.291 T 0.003 0.119 B 0.015 0.188 B 0.000 0.629 D 0.000 0.497 P 2.11 0.588 M -0.46 0.700 T -0.15 0.093 N 0.358 0.419 -0.929 0.443 T 0.000 0.000 T . . . 3.334 0.459 22.9 0.995 0.671 0.909 0.522 D c -0.001 0.190 1.000 0.425 0.732 0.924 0 5.6 0.849 4.369 0.590 0.887 0.390 1.000 0.715 0.993 0.574 19.672 0.959 . ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13|ENSG00000163596.12|ENSG00000138380.13|ENSG00000163596.12|ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13|ENSG00000138380.13 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.4971 0.1946 0.4321 0.6469 0.2867 0.4617 0.5529 0.5321 0.6039 0.4271 0.2209 0.4665 0.6589 0.3032 0.4750 0.5372 0.5092 hom 1984.71 79 2 204154552 . C T 1984.71 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;QD=25.12;VQSLOD=8.0427;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2018,147,0 2 204304214 204304214 G A exonic RAPH1 synonymous SNV RAPH1:NM_213589:exon14:c.C3699T:p.P1233P 0.16 0.36 0.1 0.075 0.1 0.06 0.1126 0.3116 0.0768 0.0786 0.0946 0.1068 0.1015 0.0621 0.17 0.29 0.1 0.16 0.074 rs2465520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1081 0.3130 0.0852 0.1234 0.0773 0.0921 0.1070 0.1054 0.0602 0.1517 0.3053 0.0931 0.1093 0.0995 0.0870 0.0925 0.0745 het 561.25 58 2 204304214 . G A 561.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.825;DP=58;Dels=0.00;FS=2.203;HRun=0;HaplotypeScore=2.3479;MQ=58.03;MQ0=0;MQRankSum=-0.152;QD=9.68;ReadPosRankSum=-0.296;VQSLOD=5.2824;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,22:58:99:591,0,1010 2 204322298 204322298 T C exonic RAPH1 synonymous SNV RAPH1:NM_213589:exon8:c.A1113G:p.K371K,RAPH1:NM_001329728:exon10:c.A1269G:p.K423K,RAPH1:NM_203365:exon10:c.A1269G:p.K423K 0.6 0.73 0.52 0.41 0.59 0.68 0.5862 0.6967 0.5076 0.3827 0.4829 0.5993 0.5573 0.6681 0.63 0.69 0.6 0.64 0.65 rs2469953 COSM4419296;COSM4419295 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5780 0.6993 0.5050 0.6830 0.3802 0.4810 0.5984 0.5981 0.6671 0.5869 0.6985 0.5373 0.6967 0.3964 0.4900 0.5683 0.5472 hom 6825.74 239 2 204322298 . T C 6825.74 Mask AC=2;AF=1.00;AN=2;DP=239;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2130;MQ=58.90;MQ0=0;QD=28.56;VQSLOD=5.7449;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,239:239:99:6825,512,0 2 204732714 204732714 A G exonic CTLA4 nonsynonymous SNV CTLA4:NM_001037631:exon1:c.A49G:p.T17A,CTLA4:NM_005214:exon1:c.A49G:p.T17A 0.43 0.39 0.46 0.64 0.36 0.31 0.4112 0.3742 0.4661 0.6689 0.5218 0.3857 0.3885 0.3208 0.37 0.37 0.37 0.39 0.36 rs231775 COSM3736237 2(pancreas);1(skin);1(large_intestine) other|other|other|other|other|Benign Hashimoto_thyroiditis\x2c_susceptibility_to|Thyroid-associated_orbitopathy\x2c_susceptibility_to|Systemic_lupus_erythematosus\x2c_susceptibility_to|Diabetes_mellitus\x2c_insulin-dependent\x2c_susceptibility_to|Celiac_disease_3|not_specified RCV000018423.2|RCV000018424.2|RCV000018425.2|RCV000018426.2|RCV000018427.2|RCV000455037.1 MedGen:OMIM|MedGen C1857845:609755|CN169374 . . . . . . 0.181 0.219 T 0.015 0.158 B 0.006 0.112 B 0.072 0.023 N 1 0.090 P 1.1 0.281 L 1.73 0.264 T 0.28 0.305 N 0.071 0.081 -0.908 0.471 T 0.000 0.000 T . . . -1.474 0.017 0.003 0.458 0.036 0.042 0.095 N c -1.274 -1.363 0.996 0.341 0.487 0.133 0 -2.84 0.054 -0.309 0.081 0.131 0.216 0.000 0.063 0.060 0.171 4.360 0.106 . ENSG00000163599.10 Testis 0.4150 0.3742 0.4643 0.3024 0.6681 0.5283 0.3820 0.3833 0.3192 0.4250 0.3731 0.4282 0.3013 0.6571 0.5209 0.4100 0.4265 hom 3691.08 126 2 204732714 . A G 3691.08 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4303;MQ=59.00;MQ0=0;QD=29.29;VQSLOD=8.2632;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3691,277,0 2 205829991 205829991 C T exonic PARD3B synonymous SNV PARD3B:NM_001302769:exon3:c.C339T:p.A113A,PARD3B:NM_057177:exon3:c.C339T:p.A113A,PARD3B:NM_152526:exon3:c.C339T:p.A113A,PARD3B:NM_205863:exon3:c.C339T:p.A113A 0.8 0.96 0.75 0.77 0.62 0.85 0.6611 0.9032 0.7837 0.7673 0.5956 0.5600 0.6325 0.8117 0.66 0.88 0.57 0.77 0.66 rs236843 COSM1404698;COSM1404699;COSM1404700 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6609 0.9086 0.7744 0.6084 0.7649 0.5980 0.5560 0.6142 0.8067 0.6709 0.8951 0.7196 0.56 0.7923 0.5948 0.5489 0.6010 hom 1522.98 48 2 205829991 . C T 1522.98 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.69;MQ0=0;QD=31.73;VQSLOD=9.3449;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1556,117,0 2 206364737 206364737 T C exonic PARD3B synonymous SNV PARD3B:NM_057177:exon20:c.T2955C:p.S985S,PARD3B:NM_152526:exon20:c.T2976C:p.S992S,PARD3B:NM_205863:exon20:c.T2859C:p.S953S,PARD3B:NM_001302769:exon21:c.T3162C:p.S1054S 0.45 0.36 0.57 0.49 0.41 0.48 0.4426 0.3599 0.6394 0.5013 0.5463 0.3955 0.4533 0.4714 0.38 0.37 0.38 0.43 0.37 rs10197347 COSM3757895;COSM3757894;COSM3757896 1(lung);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4524 0.3574 0.6313 0.2739 0.4932 0.5537 0.3975 0.4163 0.4699 0.4228 0.3632 0.5552 0.2881 0.4913 0.5604 0.4115 0.4509 het 2794.43 249 2 206364737 . T C 2794.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.938;DP=249;DS;Dels=0.00;FS=3.671;HRun=1;HaplotypeScore=4.6195;MQ=59.57;MQ0=0;MQRankSum=1.050;QD=11.22;ReadPosRankSum=0.632;VQSLOD=4.9594;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:134,113:249:99:2824,0,3796 2 206480393 206480393 C T exonic PARD3B synonymous SNV PARD3B:NM_057177:exon22:c.C3267T:p.D1089D,PARD3B:NM_152526:exon22:c.C3288T:p.D1096D,PARD3B:NM_205863:exon22:c.C3171T:p.D1057D,PARD3B:NM_001302769:exon23:c.C3474T:p.D1158D 0.035 0.0061 0.045 . 0.11 0.026 0.0745 0.0149 0.0393 0.0001 0.0697 0.1084 0.0590 0.0388 0.077 0.018 0.11 0.011 0.09 rs17682782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0737 0.0146 0.0414 0.1306 0.0002 0.0660 0.1088 0.0820 0.0402 0.0756 0.0189 0.0632 0.1633 0.0006 0.0625 0.1170 0.1041 het 1771.38 133 2 206480393 . C T 1771.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.186;DP=133;Dels=0.00;FS=8.071;HRun=0;HaplotypeScore=2.9836;MQ=58.70;MQ0=1;MQRankSum=2.369;QD=13.32;ReadPosRankSum=-0.484;VQSLOD=4.2614;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,71:133:99:1801,0,1364 2 206480486 206480486 T C exonic PARD3B synonymous SNV PARD3B:NM_057177:exon22:c.T3360C:p.P1120P,PARD3B:NM_152526:exon22:c.T3381C:p.P1127P,PARD3B:NM_205863:exon22:c.T3264C:p.P1088P,PARD3B:NM_001302769:exon23:c.T3567C:p.P1189P 0.0094 0.0015 0.013 . 0.025 0.011 0.0231 0.0052 0.0086 0 0.0319 0.0335 0.0191 0.0110 0.02 0.0054 0.027 . . rs56272619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0227 0.0045 0.0107 0.0171 5.809e-05 0.0337 0.0339 0.0237 0.0114 0.0265 0.0068 0.0179 0.0199 0.0006 0.0307 0.0400 0.0317 het 959.39 81 2 206480486 . T C 959.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.053;DP=81;Dels=0.00;FS=4.348;HRun=3;HaplotypeScore=1.3670;MQ=59.54;MQ0=0;MQRankSum=0.348;QD=11.84;ReadPosRankSum=-0.224;VQSLOD=6.1488;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,35:81:99:989,0,1292 2 206581033 206581033 G A exonic NRP2 nonsynonymous SNV NRP2:NM_003872:exon3:c.G368A:p.R123K,NRP2:NM_018534:exon3:c.G368A:p.R123K,NRP2:NM_201264:exon3:c.G368A:p.R123K,NRP2:NM_201266:exon3:c.G368A:p.R123K,NRP2:NM_201267:exon3:c.G368A:p.R123K,NRP2:NM_201279:exon3:c.G368A:p.R123K 0.96 0.87 0.99 1. 1. 1. 0.9895 0.8866 0.9965 1 0.9998 0.9993 0.9912 0.9998 0.96 0.89 1. 0.96 1. rs849541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9918 0.8850 0.9956 0.9999 0.9999 1.0000 0.9993 0.9954 0.9996 0.9664 0.8834 0.9928 1 1 1 0.9995 0.9898 hom 6885.65 205 2 206581033 . G A 6885.65 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1994;MQ=59.21;MQ0=0;QD=33.59;VQSLOD=6.3698;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6885,536,0 2 206592695 206592695 T C exonic NRP2 synonymous SNV NRP2:NM_003872:exon7:c.T1071C:p.Y357Y,NRP2:NM_018534:exon7:c.T1071C:p.Y357Y,NRP2:NM_201264:exon7:c.T1071C:p.Y357Y,NRP2:NM_201266:exon7:c.T1071C:p.Y357Y,NRP2:NM_201267:exon7:c.T1071C:p.Y357Y,NRP2:NM_201279:exon7:c.T1071C:p.Y357Y 0.52 0.076 0.55 0.81 0.56 0.74 0.5702 0.1442 0.6362 0.8125 0.6020 0.5445 0.6011 0.7532 0.41 0.16 0.54 0.41 0.52 rs849526 COSM5829387;COSM5829386;COSM3757902;COSM3757900;COSM3757901 1(bone);18(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5806 0.1397 0.6186 0.6147 0.8132 0.6001 0.5418 0.5493 0.7492 0.4516 0.1489 0.6026 0.6126 0.8327 0.6014 0.5336 0.5470 hom 3082.26 92 2 206592695 . T C 3082.26 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=33.50;VQSLOD=9.2832;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3115,250,0 2 206608039 206608039 T C exonic NRP2 synonymous SNV NRP2:NM_003872:exon9:c.T1404C:p.V468V,NRP2:NM_018534:exon9:c.T1404C:p.V468V,NRP2:NM_201264:exon9:c.T1404C:p.V468V,NRP2:NM_201266:exon9:c.T1404C:p.V468V,NRP2:NM_201267:exon9:c.T1404C:p.V468V,NRP2:NM_201279:exon9:c.T1404C:p.V468V 0.96 0.9 0.98 1. 0.98 1. 0.9805 0.9141 0.9909 0.9994 0.9831 0.9824 0.9857 0.9959 0.96 0.91 0.98 0.98 0.81 rs849568 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9818 0.9152 0.9906 0.9943 0.9994 0.9841 0.9799 0.9836 0.9964 0.9637 0.9155 0.9797 0.9801 0.9988 0.9825 0.9809 0.9857 hom 6176.66 185 2 206608039 . T C 6176.66 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6504;MQ=59.12;MQ0=0;QD=33.39;VQSLOD=7.3586;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:6176,493,0 2 206882530 206882530 G C exonic INO80D synonymous SNV INO80D:NM_017759:exon8:c.C1416G:p.L472L 0.025 0.0038 0.02 0.031 0.024 0.052 0.0301 0.0069 0.0145 0.0397 0.0242 0.0319 0.0261 0.0458 0.025 0.0078 0.033 . . rs41272653 COSM3757906;COSM3757907 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0314 0.0071 0.0160 0.0359 0.0432 0.0275 0.0341 0.0270 0.0463 0.0276 0.0092 0.0167 0.0364 0.0382 0.0249 0.0383 0.0255 het 324.01 36 2 206882530 . G C 324.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.249;DP=36;Dels=0.00;FS=3.246;HRun=0;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=-0.243;QD=9.00;ReadPosRankSum=0.892;VQSLOD=5.2673;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,14:36:99:354,0,586 2 206921451 206921451 G A exonic INO80D synonymous SNV INO80D:NM_017759:exon4:c.C435T:p.T145T 0.72 0.55 0.77 0.74 0.75 0.86 0.7663 0.5732 0.7654 0.7333 0.7509 0.7788 0.75 0.8540 0.72 0.58 0.78 0.75 . rs818009 COSM4415017;COSM4415018 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7653 0.5601 0.7624 0.7909 0.7278 0.7495 0.7775 0.7723 0.8490 0.7154 0.5609 0.7697 0.7433 0.7098 0.7566 0.7887 0.7739 hom 1192.06 39 2 206921451 . G A 1192.06 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.88;MQ0=0;QD=30.57;VQSLOD=9.4219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:93.30:1225,93,0 2 207169731 207169731 G A exonic ZDBF2 nonsynonymous SNV ZDBF2:NM_020923:exon5:c.G479A:p.R160K,ZDBF2:NM_001285549:exon7:c.G473A:p.R158K 0.41 0.48 0.51 0.2 0.43 0.42 0.4133 0.4727 0.3917 0.1794 0.3618 0.4480 0.3930 0.3964 0.46 0.48 0.45 0.46 . rs10932150 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.152 0.179 N 1 0.090 P -1.095 0.010 N 2.42 0.154 T 1.33 0.009 N 0.034 0.017 -0.912 0.466 T 0.000 0.000 T . . . -1.321 0.021 0.004 0.353 0.022 0.003 0.015 N c -1.611 -1.484 0.011 0.121 0.707 0.730 0 2.59 0.300 1.319 0.330 -0.113 0.115 0.130 0.231 0.031 0.148 7.758 0.279 . ENSG00000204186.3|ENSG00000204186.3|ENSG00000183671.8 Artery_Tibial|Colon_Transverse|Thyroid 0.4118 0.4753 0.3991 0.4045 0.1822 0.3685 0.4559 0.4269 0.3948 0.4224 0.4778 0.4199 0.3377 0.1644 0.3695 0.4319 0.4265 het 221.81 20 2 207169731 . G A 221.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.270;DP=20;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-0.347;QD=11.09;ReadPosRankSum=0.347;VQSLOD=6.6446;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,8:20:99:252,0,312 2 207172627 207172627 A G exonic ZDBF2 synonymous SNV ZDBF2:NM_020923:exon5:c.A3375G:p.Q1125Q,ZDBF2:NM_001285549:exon7:c.A3369G:p.Q1123Q 0.46 0.33 0.61 0.36 0.56 0.53 0.5294 0.3702 0.5554 0.3288 0.5061 0.5817 0.4989 0.5108 0.53 0.4 0.6 0.48 . rs7582864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5333 0.3678 0.5579 0.5102 0.3304 0.5112 0.5931 0.5448 0.5076 0.5049 0.3841 0.5457 0.4801 0.3197 0.5126 0.5880 0.5614 het 326.34 26 2 207172627 . A G 326.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.003;DP=26;Dels=0.00;FS=6.064;HRun=0;HaplotypeScore=0.9992;MQ=59.11;MQ0=0;MQRankSum=-0.283;QD=12.55;ReadPosRankSum=-0.489;VQSLOD=5.5622;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,12:26:99:356,0,416 2 207174316 207174316 T C exonic ZDBF2 synonymous SNV ZDBF2:NM_020923:exon5:c.T5064C:p.S1688S,ZDBF2:NM_001285549:exon7:c.T5058C:p.S1686S 0.48 0.38 0.62 0.36 0.57 0.53 0.5394 0.4245 0.5629 0.3288 0.5051 0.5898 0.5067 0.5130 0.56 0.46 0.6 0.51 . rs3732084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5424 0.4238 0.5653 0.5201 0.3308 0.5117 0.6010 0.5550 0.5101 0.5244 0.4381 0.5514 0.49 0.3199 0.5132 0.5952 0.5736 het 1363.09 90 2 207174316 . T C 1363.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.063;DP=90;Dels=0.00;FS=0.811;HRun=1;HaplotypeScore=0.7887;MQ=58.79;MQ0=0;MQRankSum=0.700;QD=15.15;ReadPosRankSum=-0.847;VQSLOD=6.1376;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,51:90:99:1393,0,988 2 207621759 207621759 A G exonic MDH1B synonymous SNV MDH1B:NM_001039845:exon4:c.T276C:p.Y92Y,MDH1B:NM_001282940:exon4:c.T276C:p.Y92Y 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1 1 1 1. 1. 1. 1. 0.98 rs1990849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9998 1 1 1 1 1 1 1 0.9999 0.9995 1 1 1 1 1 1 hom 2222.87 75 2 207621759 . A G 2222.87 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.42;MQ0=0;QD=29.64;VQSLOD=8.1786;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2256,172,0 2 207820276 207820276 G A exonic CPO nonsynonymous SNV CPO:NM_173077:exon3:c.G255A:p.M85I 0.38 0.38 0.26 0.41 0.46 0.37 0.4222 0.3777 0.1898 0.4025 0.4281 0.4802 0.4229 0.3856 0.45 0.39 0.48 0.4 0.42 rs13420911 COSM5021349 1(bone) . . . . . . . . . . . 0.833 0.029 T 0.021 0.172 B 0.014 0.158 B 0.000 0.843 D 0.965 0.259 P -1.055 0.011 N 3.12 0.081 T -0.51 0.160 N 0.171 0.207 -0.961 0.390 T 0.000 0.000 T . . . 1.433 0.235 12.96 0.421 0.031 0.736 0.357 D c -0.566 -0.315 0.100 0.163 0.554 0.246 0 5.11 0.691 0.865 0.274 0.974 0.594 1.000 0.715 0.931 0.405 11.019 0.467 Peptidase M14\x2c carboxypeptidase A . . 0.4118 0.3781 0.2105 0.4614 0.4013 0.4266 0.4792 0.4131 0.3837 0.4313 0.3734 0.2794 0.4371 0.3970 0.4310 0.4751 0.4599 hom 2920.28 90 2 207820276 . G A 2920.28 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=32.45;VQSLOD=9.7372;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2953,241,0 2 207824384 207824384 T G exonic CPO nonsynonymous SNV CPO:NM_173077:exon5:c.T402G:p.S134R 0.43 0.55 0.28 0.41 0.46 0.4 0.4412 0.5200 0.2008 0.4037 0.4285 0.4836 0.44 0.4132 0.49 0.52 0.48 0.46 0.44 rs11903403 COSM4001483 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.528 0.071 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -0.41 0.029 N 2.93 0.098 T 1.1 0.012 N 0.054 0.036 -0.963 0.386 T 0.000 0.000 T . . . 0.225 0.116 4.944 0.336 0.020 0.029 0.077 N c -1.012 -0.878 0.000 0.048 0.638 0.428 0 1.12 0.196 0.129 0.155 0.087 0.193 0.579 0.273 0.155 0.206 2.624 0.046 Peptidase M14\x2c carboxypeptidase A . . 0.4279 0.5209 0.2212 0.4754 0.4026 0.4266 0.4820 0.4243 0.4108 0.4705 0.5073 0.2883 0.4433 0.3955 0.4315 0.4770 0.4684 hom 2950.54 89 2 207824384 . T G 2950.54 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=59.32;MQ0=0;QD=33.15;VQSLOD=9.9216;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2984,229,0 2 207825656 207825656 A T exonic CPO synonymous SNV CPO:NM_173077:exon6:c.A564T:p.A188A 0.38 0.37 0.26 0.41 0.46 0.39 0.4238 0.3668 0.1905 0.3996 0.4277 0.4806 0.4306 0.4046 0.44 0.38 0.48 0.4 0.42 rs13397039 COSM4001484 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4138 0.3687 0.2111 0.4617 0.3988 0.4262 0.4798 0.4141 0.4027 0.4272 0.3612 0.2787 0.4333 0.3883 0.4313 0.4750 0.4571 hom 5425.56 166 2 207825656 . A T 5425.56 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.897;DP=166;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.16;MQ0=0;MQRankSum=0.271;QD=32.68;ReadPosRankSum=-0.125;VQSLOD=9.0601;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,165:166:99:5388,387,0 2 207833983 207833983 A G exonic CPO synonymous SNV CPO:NM_173077:exon9:c.A948G:p.T316T 0.29 0.37 0.2 0.26 0.3 0.25 0.2961 0.3550 0.2227 0.2506 0.2817 0.3132 0.2907 0.2713 0.32 0.35 0.31 0.33 0.26 rs7582305 COSM4419255 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2887 0.3528 0.2259 0.3145 0.2499 0.2716 0.3100 0.2889 0.2740 0.3115 0.3538 0.2296 0.2947 0.2525 0.2831 0.3057 0.2963 het 1300.68 100 2 207833983 . A G 1300.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=100;Dels=0.00;FS=4.133;HRun=0;HaplotypeScore=0.9996;MQ=60.00;MQ0=0;MQRankSum=-1.262;QD=13.01;ReadPosRankSum=2.593;VQSLOD=4.8532;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,49:100:99:1331,0,1477 2 207988613 207988613 C T exonic KLF7 synonymous SNV KLF7:NM_001270943:exon2:c.G519A:p.L173L,KLF7:NM_001270944:exon2:c.G534A:p.L178L,KLF7:NM_003709:exon2:c.G618A:p.L206L 0.96 0.84 0.99 1. 1. 1. 0.9882 0.8715 0.9930 0.9999 1 0.9999 0.9967 0.9998 0.96 0.88 1. 0.92 1. rs2700166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9909 0.8726 0.9929 0.9998 0.9999 1.0000 0.9999 0.9965 0.9998 0.9629 0.8701 0.9940 1 1 1 0.9997 0.9939 hom 5889.43 188 2 207988613 . C T 5889.43 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.695;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=58.93;MQ0=0;MQRankSum=-1.714;QD=31.33;ReadPosRankSum=-0.884;VQSLOD=8.9925;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,187:188:99:5889,460,0 2 208477852 208477852 G A exonic METTL21A nonsynonymous SNV METTL21A:NM_001127395:exon4:c.C575T:p.T192I,METTL21A:NM_001330130:exon4:c.C575T:p.T192I,METTL21A:NM_001330134:exon4:c.C575T:p.T192I,METTL21A:NM_145280:exon4:c.C575T:p.T192I,METTL21A:NM_001330137:exon5:c.C629T:p.T210I 0.9 0.86 0.88 1. 0.83 0.95 0.8598 0.8728 0.9235 0.9998 0.8635 0.8114 0.8568 0.9279 0.83 0.87 0.82 0.95 0.87 rs2551949 COSM4133406 1(thyroid) . . . . . . . . . . . 0.323 0.134 T 0.047 0.206 B 0.02 0.179 B 0.260 0.153 N 0.614 0.588 P 2.24 0.636 M 2.36 0.161 T -2.21 0.496 N 0.101 0.134 -0.995 0.313 T 0.000 0.000 T . . . 1.615 0.256 13.93 0.914 0.200 0.924 0.554 D c -0.208 -0.090 0.206 0.182 0.732 0.924 0 2.88 0.325 3.100 0.497 0.108 0.203 0.999 0.424 0.834 0.348 11.452 0.492 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000144401.10|ENSG00000144401.10|ENSG00000144401.10|ENSG00000144401.10 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic 0.8613 0.8704 0.9147 0.8251 0.9998 0.8614 0.8086 0.8505 0.9269 0.8431 0.8692 0.8831 0.8046 1 0.8657 0.8037 0.85 hom 7017.63 222 2 208477852 . G A 7017.63 Mask AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9312;MQ=59.50;MQ0=0;QD=31.61;VQSLOD=8.3919;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:7017,545,0 2 208477956 208477956 C T exonic METTL21A synonymous SNV METTL21A:NM_001127395:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330130:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330134:exon4:c.G471A:p.Q157Q,METTL21A:NM_145280:exon4:c.G471A:p.Q157Q,METTL21A:NM_001330137:exon5:c.G525A:p.Q175Q 0.9 0.86 0.88 1. 0.83 0.95 0.8597 0.8730 0.9235 0.9998 0.8635 0.8112 0.8568 0.9276 0.83 0.87 0.82 0.95 0.87 rs2709416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8616 0.8709 0.9149 0.8255 0.9998 0.8613 0.8086 0.8505 0.9272 0.8430 0.8691 0.8831 0.8046 1 0.8657 0.8036 0.85 hom 5453.01 172 2 208477956 . C T 5453.01 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=31.70;VQSLOD=9.7331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5452,424,0 2 208478055 208478055 A G exonic METTL21A synonymous SNV METTL21A:NM_001127395:exon4:c.T372C:p.T124T,METTL21A:NM_001330130:exon4:c.T372C:p.T124T,METTL21A:NM_001330134:exon4:c.T372C:p.T124T,METTL21A:NM_145280:exon4:c.T372C:p.T124T,METTL21A:NM_001330137:exon5:c.T426C:p.T142T 0.35 0.23 0.36 0.37 0.31 0.51 0.3522 0.2399 0.4708 0.3561 0.3592 0.3085 0.3532 0.5116 0.29 0.25 0.32 0.36 0.28 rs17520056 COSM149049 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3566 0.2472 0.4571 0.2344 0.3662 0.3524 0.3116 0.3175 0.5086 0.3094 0.2421 0.3971 0.2285 0.3668 0.3534 0.3266 0.3449 het 972.32 78 2 208478055 . A G 972.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.431;DP=78;Dels=0.00;FS=5.923;HRun=1;HaplotypeScore=1.9497;MQ=59.22;MQ0=0;MQRankSum=-1.091;QD=12.47;ReadPosRankSum=0.250;VQSLOD=4.9074;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,37:78:99:1002,0,1202 2 208591568 208591568 C A exonic CCNYL1 synonymous SNV CCNYL1:NM_001142300:exon3:c.C298A:p.R100R,CCNYL1:NM_001330218:exon3:c.C298A:p.R100R,CCNYL1:NM_152523:exon4:c.C88A:p.R30R . . . . . . . . . . . . . . . . . . . rs755335712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.239e-05 0 0 0 0 0 6.678e-05 0 het 811.12 95 2 208591568 . C A 811.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.714;DP=95;Dels=0.00;FS=1.711;HRun=0;HaplotypeScore=0.9973;MQ=57.21;MQ0=0;MQRankSum=0.422;QD=8.54;ReadPosRankSum=0.238;VQSLOD=2.7143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,39:95:99:841,0,1353 2 208633413 208633413 T C exonic FZD5 synonymous SNV FZD5:NM_003468:exon2:c.A51G:p.L17L 0.99 0.97 1. 1. 1. 1. 0.9977 0.9729 0.9990 1 1 1.0000 0.9986 0.9999 0.99 0.97 1. 0.67 0.64 rs4675711 COSM3749629 8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9748 0.9990 1 1 1 0.9999 0.9990 0.9999 0.9928 0.9747 1 1 1 1 0.9999 0.9980 hom 759.75 21 2 208633413 . T C 759.75 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=36.18;VQSLOD=9.2915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:63.17:793,63,0 2 208811097 208811097 C T exonic PLEKHM3 synonymous SNV PLEKHM3:NM_001080475:exon4:c.G1686A:p.K562K 0.54 0.71 0.5 0.4 0.61 0.43 0.5626 0.7061 0.3645 0.3890 0.4953 0.6267 0.5978 0.4727 0.65 0.69 0.63 0.54 0.63 rs10932215 COSM3757919;COSM3757920 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5555 0.7063 0.3870 0.7125 0.3890 0.5007 0.6271 0.6059 0.4777 0.6098 0.7108 0.4700 0.6788 0.4088 0.5115 0.6061 0.5481 het 2171.18 194 2 208811097 . C T 2171.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.731;DP=194;Dels=0.00;FS=1.199;HRun=3;HaplotypeScore=5.9761;MQ=58.97;MQ0=0;MQRankSum=0.395;QD=11.19;ReadPosRankSum=0.882;VQSLOD=5.1989;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,86:194:99:2201,0,2874 2 208841964 208841964 A G exonic PLEKHM3 synonymous SNV PLEKHM3:NM_001080475:exon3:c.T957C:p.N319N 0.57 0.57 0.66 0.47 0.74 0.43 0.6571 0.5846 0.7296 0.4489 0.7189 0.7130 0.6711 0.5064 0.68 0.61 0.71 0.6 0.74 rs4441448 COSM4001486;COSM4001487 1(bone);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6658 0.5856 0.7333 0.7635 0.4432 0.7221 0.7109 0.7002 0.5157 0.6717 0.5899 0.7326 0.7715 0.4796 0.7230 0.7206 0.6996 het 1975.79 140 2 208841964 . A G 1975.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.026;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4219;MQ=59.67;MQ0=0;MQRankSum=1.165;QD=14.11;ReadPosRankSum=-0.684;VQSLOD=3.8498;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:64,76:140:99:2006,0,1739 2 208986637 208986637 T C exonic CRYGD synonymous SNV CRYGD:NM_006891:exon3:c.A285G:p.R95R 0.78 0.83 0.78 0.61 0.92 0.73 0.8500 0.8433 0.7556 0.5756 0.9223 0.9119 0.8535 0.7840 0.89 0.85 0.92 0.8 0.91 rs2305430 . . Benign|Benign not_specified|Cataract RCV000254068.1|RCV000380516.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000518:C1962983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8481 0.8431 0.7595 0.8559 0.5743 0.9225 0.9175 0.8691 0.7890 0.8830 0.8446 0.8091 0.8377 0.6043 0.9310 0.9284 0.8918 hom 6963.85 215 2 208986637 . T C 6963.85 Mask AC=2;AF=1.00;AN=2;DP=215;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4182;MQ=58.96;MQ0=0;QD=32.39;VQSLOD=6.9914;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,215:215:99:6963,539,0 2 209007559 209007559 T G exonic CRYGB nonsynonymous SNV CRYGB:NM_005210:exon3:c.A331C:p.I111L 0.64 0.62 0.54 0.6 0.73 0.71 0.6885 0.6614 0.5309 0.5404 0.7028 0.7306 0.6982 0.7172 0.72 0.68 0.74 0.66 0.67 rs796287 COSM3757921 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.08 0.335 T 0.0 0.026 B 0.0 0.013 B 0.031 0.252 N 1 0.090 P -1.525 0.005 N -0.95 0.754 T 0.12 0.056 N 0.019 0.004 -0.932 0.439 T 0.000 0.000 T . . . 2.713 0.387 20.9 0.943 0.240 0.009 0.035 N c -1.173 -1.107 0.830 0.246 0.616 0.392 0 0.468 0.159 1.018 0.294 0.136 0.221 0.009 0.180 0.994 0.587 9.465 0.378 Beta/gamma crystallin|Gamma-crystallin-related . . 0.6845 0.6639 0.5417 0.7258 0.5406 0.7086 0.7354 0.6842 0.7171 0.7064 0.6840 0.6184 0.72 0.5309 0.7172 0.7403 0.7071 het 3051.78 248 2 209007559 . T G 3051.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.321;DP=248;DS;Dels=0.00;FS=2.847;HRun=0;HaplotypeScore=6.4588;MQ=59.56;MQ0=0;MQRankSum=0.386;QD=12.31;ReadPosRankSum=1.171;VQSLOD=4.7807;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:141,107:248:99:3082,0,3602 2 209010558 209010558 A G exonic CRYGB synonymous SNV CRYGB:NM_005210:exon2:c.T192C:p.P64P 0.4 0.38 0.3 0.27 0.52 0.52 0.4817 0.4314 0.2736 0.2419 0.4903 0.5417 0.4967 0.5385 0.5 0.43 0.54 0.37 0.5 rs2854723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4755 0.4259 0.2880 0.6178 0.2440 0.4852 0.5412 0.4947 0.5404 0.4807 0.4453 0.3445 0.5960 0.2441 0.4868 0.5300 0.4928 het 1277.95 110 2 209010558 . A G 1277.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.070;DP=110;Dels=0.00;FS=2.483;HRun=3;HaplotypeScore=3.6430;MQ=58.37;MQ0=0;MQRankSum=-0.137;QD=11.62;ReadPosRankSum=1.491;VQSLOD=4.5568;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1308,0,1700 2 209036712 209036712 T C exonic C2orf80 nonsynonymous SNV C2orf80:NM_001099334:exon7:c.A454G:p.S152G 0.86 0.79 0.94 0.85 0.93 0.82 0.8895 0.8181 0.8952 0.8560 0.8800 0.9163 0.8967 0.8405 0.89 0.82 0.92 0.86 0.89 rs10804166 . . . . . . . . . . . . . 0.13 0.279 T 0.002 0.090 B 0.007 0.121 B 0.000 0.477 N 0.818 0.588 P 1.545 0.392 L 1.55 0.407 T -2.85 0.600 D 0.021 0.330 -1.045 0.159 T 0.000 0.000 T . . . 1.380 0.229 12.68 0.988 0.460 0.691 0.338 D c -0.644 -0.549 0.942 0.274 0.487 0.133 0 1.54 0.222 2.223 0.423 0.139 0.223 1.000 0.715 0.350 0.246 3.896 0.086 . . . 0.8910 0.8208 0.8978 0.8434 0.8558 0.8875 0.9227 0.9054 0.8385 0.8824 0.8194 0.8926 0.8667 0.8426 0.8856 0.9218 0.8908 hom 8332.72 250 2 209036712 . T C 8332.72 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7569;MQ=59.09;MQ0=0;QD=33.33;VQSLOD=9.3145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8332,650,0 2 209036778 209036778 A G exonic C2orf80 nonsynonymous SNV C2orf80:NM_001099334:exon7:c.T388C:p.C130R 0.98 0.94 1. 1. 1. 1. 0.9955 0.9497 0.9984 1 1 0.9998 0.9989 0.9993 0.98 0.95 1. 0.99 0.97 rs6435421 . . . . . . . . . . . . . 0.777 0.033 T 0.0 0.026 B 0.0 0.013 B 0.743 0.098 N 1 0.090 P -1.495 0.005 N 1.72 0.266 T 3.34 0.001 N 0.126 0.648 -0.984 0.341 T 0.000 0.000 T . . . -1.043 0.030 0.013 0.201 0.007 0.002 0.013 N c -0.740 -0.745 0.992 0.326 0.554 0.283 0 4.24 0.493 0.986 0.290 0.136 0.221 0.058 0.215 0.176 0.212 5.061 0.138 . . . 0.9963 0.9488 0.9979 1 1 1 0.9998 0.9976 0.9992 0.9856 0.9500 0.9976 1 1 1 0.9997 0.9969 hom 7071.58 214 2 209036778 . A G 7071.58 Mask AC=2;AF=1.00;AN=2;DP=214;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4826;MQ=59.54;MQ0=0;QD=33.04;VQSLOD=8.5863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:7071,560,0 2 209108317 209108317 C T exonic IDH1 nonsynonymous SNV IDH1:NM_001282386:exon6:c.G532A:p.V178I,IDH1:NM_001282387:exon6:c.G532A:p.V178I,IDH1:NM_005896:exon6:c.G532A:p.V178I 0.049 0.089 0.045 0.0069 0.048 0.044 0.0500 0.0788 0.0374 0.0072 0.0250 0.0557 0.0331 0.0512 0.062 0.081 0.053 0.043 0.033 rs34218846 COSM97131 1(haematopoietic_and_lymphoid_tissue);1(soft_tissue);8(thyroid);1(thymus) Benign not_specified RCV000121207.1 MedGen CN169374 . . . . . . 0.104 0.299 T 0.992 0.629 D 0.984 0.745 D 0.000 0.843 D 1 0.810 D 1.28 0.323 L -1.08 0.771 T -0.85 0.232 N 0.205 0.258 -0.586 0.654 T 0.083 0.325 T . . . 3.891 0.524 23.5 0.996 0.767 0.989 0.884 D c 0.734 0.742 1.000 0.747 0.707 0.730 0 5.52 0.821 7.685 0.833 0.892 0.403 1.000 0.715 0.998 0.697 19.797 0.965 Isopropylmalate dehydrogenase-like domain . . 0.0486 0.0786 0.0358 0.0866 0.0062 0.0250 0.0551 0.0595 0.0509 0.0554 0.0794 0.0310 0.0795 0.0099 0.0278 0.0545 0.0440 het 681.69 72 2 209108317 . C T 681.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.249;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.42;MQ0=0;MQRankSum=-0.470;QD=9.47;ReadPosRankSum=-0.667;VQSLOD=6.0103;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,31:72:99:712,0,1042 2 209113192 209113192 G A exonic IDH1 synonymous SNV IDH1:NM_001282386:exon4:c.C315T:p.G105G,IDH1:NM_001282387:exon4:c.C315T:p.G105G,IDH1:NM_005896:exon4:c.C315T:p.G105G 0.057 0.12 0.045 0.0069 0.048 0.045 0.0524 0.1039 0.0389 0.0072 0.0249 0.0558 0.0363 0.0514 0.071 0.11 0.053 0.054 0.049 rs11554137 COSM1741220 5(haematopoietic_and_lymphoid_tissue);1(soft_tissue) Benign not_specified RCV000454437.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0505 0.1045 0.0370 0.0865 0.0064 0.0250 0.0552 0.0607 0.0511 0.0632 0.1065 0.0311 0.0795 0.0105 0.0275 0.0546 0.0460 het 1294.28 105 2 209113192 . G A 1294.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.067;DP=105;Dels=0.00;FS=1.594;HRun=0;HaplotypeScore=3.4896;MQ=59.59;MQ0=0;MQRankSum=1.646;QD=12.33;ReadPosRankSum=1.729;VQSLOD=5.2895;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,50:105:99:1324,0,1486 2 209179939 209179939 A G exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon15:c.A1849G:p.M617V 0.028 0.065 0.014 . 0.031 0.014 0.0248 0.0544 0.0133 0.0001 0.0261 0.0249 0.0245 0.0259 0.036 0.052 0.029 0.043 0.0082 rs16840913 . . Benign Fleck_corneal_dystrophy RCV000295958.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 0.063 0.388 T 0.932 0.500 P 0.949 0.670 D 0.000 0.843 D 1.000 0.495 D 0.55 0.145 N -1.12 0.776 T -1.06 0.277 N 0.182 0.703 -0.680 0.614 T 0.120 0.419 T . . . 2.299 0.337 18.16 0.985 0.419 0.965 0.692 D c 0.421 0.479 1.000 0.747 0.731 0.878 0 4.49 0.540 9.246 0.945 1.199 0.960 1.000 0.715 1.000 0.888 11.725 0.508 TCP-1-like chaperonin intermediate domain ENSG00000115020.12 Skin_Not_Sun_Exposed_Suprapubic 0.0241 0.0550 0.0139 0.0154 0.0001 0.0262 0.0264 0.0237 0.0260 0.0316 0.0535 0.0167 0.0232 0 0.0246 0.0245 0.0368 het 1195.58 116 2 209179939 . A G 1195.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.255;DP=116;Dels=0.00;FS=5.610;HRun=1;HaplotypeScore=4.7199;MQ=58.51;MQ0=0;MQRankSum=0.384;QD=10.31;ReadPosRankSum=-0.647;VQSLOD=4.8883;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,48:116:99:1226,0,1796 2 209184980 209184980 G A exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon17:c.G2087A:p.S696N 0.99 0.97 1. 1. 1. 1. 0.9977 0.9741 0.9992 1 1 0.9999 1 1 0.99 0.98 1. 0.99 0.88 rs10932258 COSM4133415 1(thyroid) Benign Fleck_corneal_dystrophy RCV000365792.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.198 P 0.77 0.194 N -1.23 0.789 T 0.65 0.025 N 0.023 0.035 -0.941 0.425 T 0.000 0.000 T . . . 1.182 0.208 11.65 0.214 0.008 0.207 0.209 N c -0.388 -0.165 1.000 0.747 0.732 0.924 0 5.83 0.930 7.517 0.805 0.168 0.246 1.000 0.715 0.996 0.625 12.040 0.526 GroEL-like apical domain . . 0.9983 0.9758 0.9990 1 1 1 0.9999 0.9982 0.9999 0.9932 0.9766 0.9988 1 1 1 0.9999 0.9959 hom 2274.10 66 2 209184980 . G A 2274.10 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=34.46;VQSLOD=9.3331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2307,181,0 2 209184999 209184999 C T exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon17:c.C2106T:p.P702P 0.91 0.79 0.98 0.94 0.99 0.92 0.9598 0.7990 0.9843 0.9429 0.9965 0.9842 0.9801 0.9374 0.92 0.81 0.98 0.87 0.94 rs10932259 COSM4133416 1(thyroid) Benign Fleck_corneal_dystrophy RCV000396210.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9649 0.7979 0.9847 0.9964 0.9404 0.9967 0.9830 0.9744 0.9391 0.9312 0.7999 0.9809 1 0.9405 0.9957 0.9845 0.9725 hom 3128.98 98 2 209184999 . C T 3128.98 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=57.87;MQ0=0;QD=31.93;VQSLOD=7.8986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3162,241,0 2 209190330 209190330 T C exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.T2795C:p.L932S 0.91 0.79 0.98 0.94 0.99 0.92 0.9596 0.7995 0.9842 0.9430 0.9961 0.9840 0.9802 0.9373 0.92 0.81 0.98 0.87 0.99 rs2363468 . . Benign Fleck_corneal_dystrophy RCV000316508.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.178 0.172 N 1 0.090 P -0.92 0.013 N 1.72 0.266 T 1.49 0.009 N 0.03 0.012 -0.956 0.400 T 0.000 0.000 T . . . 0.703 0.161 8.844 0.472 0.038 0.185 0.201 N c -0.785 -0.531 0.646 0.221 0.707 0.730 0 5.19 0.713 0.880 0.276 0.069 0.176 0.113 0.228 0.947 0.422 6.811 0.228 . ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial 0.9647 0.7982 0.9846 0.9964 0.9405 0.9961 0.9828 0.9737 0.9392 0.9309 0.8001 0.9809 1 0.9400 0.9951 0.9841 0.9725 hom 4018.62 124 2 209190330 . T C 4018.62 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9814;MQ=59.46;MQ0=0;QD=32.41;VQSLOD=9.4845;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:4018,325,0 2 209190519 209190519 A T exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.A2984T:p.Q995L 0.91 0.79 0.98 0.94 0.99 0.92 0.9597 0.7993 0.9842 0.9426 0.9965 0.9841 0.9802 0.9374 0.92 0.81 0.98 0.87 0.99 rs893254 . . Benign Fleck_corneal_dystrophy RCV000386356.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 0.096 0.310 T 0.0 0.147 B 0.001 0.158 B 0.011 0.295 N 0.749 0.296 P 0.205 0.094 N 1.63 0.280 T -1.41 0.348 N 0.129 0.215 -1.006 0.281 T 0.000 0.000 T . . . 0.505 0.142 7.471 0.946 0.246 0.807 0.400 D c -0.659 -0.605 0.649 0.221 0.719 0.830 0 4.24 0.493 1.440 0.344 1.199 0.960 0.105 0.227 0.279 0.233 12.604 0.557 . ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial 0.9649 0.7980 0.9846 0.9964 0.9403 0.9967 0.9830 0.9744 0.9394 0.9305 0.7979 0.9809 1 0.9374 0.9957 0.9842 0.9724 hom 2530.90 78 2 209190519 . A T 2530.90 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=32.45;VQSLOD=8.7787;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2564,202,0 2 209190528 209190528 C G exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.C2993G:p.T998S 0.91 0.79 0.98 0.94 0.99 0.92 0.9601 0.8005 0.9846 0.9423 0.9965 0.9843 0.9802 0.9375 0.92 0.81 0.98 0.87 0.99 rs893253 . . Benign Fleck_corneal_dystrophy RCV000293929.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 0.744 0.037 T 0.0 0.197 B 0.001 0.139 B 0.029 0.017 N 1 0.090 P 0.14 0.088 N 1.68 0.272 T -0.1 0.105 N 0.015 0.002 -0.997 0.309 T 0.000 0.000 T . . . -2.337 0.004 0.001 0.291 0.015 0.085 0.143 N c -1.461 -1.442 0.101 0.164 0.719 0.830 0 -1.75 0.076 -0.019 0.124 -0.876 0.028 0.000 0.063 0.003 0.074 3.691 0.078 . ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial 0.9651 0.7994 0.9850 0.9965 0.9403 0.9967 0.9833 0.9746 0.9395 0.9311 0.7992 0.9809 1 0.9377 0.9957 0.9846 0.9745 hom 2207.27 64 2 209190528 . C G 2207.27 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=34.49;VQSLOD=8.9688;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2240,178,0 2 209190632 209190632 T G exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.T3097G:p.S1033A 0.099 0.15 0.11 0.0089 0.13 0.085 0.1205 0.1423 0.0815 0.0081 0.1066 0.1394 0.1035 0.1235 0.14 0.14 0.14 0.11 0.098 rs999890 COSM3736239 1(skin) Benign Fleck_corneal_dystrophy RCV000346500.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 0.204 0.313 T 0.089 0.235 B 0.061 0.254 B 0.005 0.333 N 0.853 0.285 P 2.045 0.562 M 1.48 0.317 T -0.48 0.193 N 0.043 0.047 -1.027 0.213 T 0.001 0.002 T . . . -1.576 0.015 0.002 0.913 0.200 0.931 0.572 D c -0.827 -0.822 0.095 0.162 0.719 0.830 0 -0.478 0.114 2.811 0.474 0.141 0.225 0.997 0.399 0.889 0.374 2.562 0.044 . ENSG00000115020.12 Adrenal_Gland 0.1173 0.1406 0.0810 0.1271 0.0067 0.1011 0.1416 0.1280 0.1260 0.1279 0.1398 0.0883 0.1358 0.0117 0.1108 0.1387 0.1408 hom 2660.45 88 2 209190632 . T G 2660.45 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;QD=30.23;VQSLOD=9.2146;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2693,220,0 2 209190649 209190649 A G exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon20:c.A3114G:p.R1038R 0.099 0.15 0.11 0.0089 0.13 0.085 0.1205 0.1417 0.0816 0.0081 0.1067 0.1393 0.1035 0.1235 0.14 0.14 0.14 0.11 0.098 rs999891 COSM3757922 1(large_intestine) Benign Fleck_corneal_dystrophy RCV000385242.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1173 0.1405 0.0812 0.1270 0.0067 0.1011 0.1415 0.1281 0.1260 0.1278 0.1397 0.0883 0.1358 0.0117 0.1108 0.1386 0.1418 hom 2743.05 90 2 209190649 . A G 2743.05 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=58.81;MQ0=0;QD=30.48;VQSLOD=9.3026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2776,211,0 2 209191082 209191082 C A exonic PIKFYVE nonsynonymous SNV PIKFYVE:NM_015040:exon20:c.C3547A:p.Q1183K 0.91 0.79 0.98 0.94 0.99 0.92 0.9596 0.7989 0.9842 0.9430 0.9965 0.9841 0.9802 0.9373 0.92 0.81 0.98 0.87 0.99 rs1529979 . . Benign Fleck_corneal_dystrophy RCV000339815.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.443 N 1 0.090 P -0.805 0.016 N 1.7 0.269 T 0.17 0.051 N 0.03 0.011 -0.962 0.389 T 0.000 0.000 T . . . 0.084 0.102 3.433 0.164 0.004 0.129 0.173 N c -0.722 -0.444 0.999 0.397 0.707 0.730 0 4.65 0.575 4.402 0.592 0.165 0.245 0.996 0.391 0.647 0.298 13.087 0.584 . ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12|ENSG00000115020.12 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial 0.9648 0.7978 0.9847 0.9965 0.9405 0.9967 0.9830 0.9745 0.9393 0.9310 0.7998 0.9809 1 0.9396 0.9957 0.9843 0.9725 hom 4108.33 135 2 209191082 . C A 4108.33 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7552;MQ=59.55;MQ0=0;QD=30.43;VQSLOD=8.5977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:135:99:4108,313,0 2 209191099 209191099 T C exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon20:c.T3564C:p.N1188N 1. 0.99 1. 1. 1. 1. 0.9985 0.9837 0.9995 1 0.9998 0.9999 0.9989 1 0.99 0.98 1. 1. 0.98 rs1529978 . . Benign Fleck_corneal_dystrophy RCV000395304.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9842 0.9995 1 1 0.9999 0.9999 0.9985 0.9999 0.9956 0.9851 1 1 1 1 0.9999 0.9969 hom 3802.78 130 2 209191099 . T C 3802.78 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=29.25;VQSLOD=7.9986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3802,301,0 2 209214770 209214770 A G exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon36:c.A5397G:p.T1799T 0.91 0.79 0.98 0.94 0.99 0.92 0.9596 0.7980 0.9843 0.9433 0.9965 0.9841 0.9790 0.9375 0.92 0.81 0.98 0.87 0.99 rs2118297 . . Benign Fleck_corneal_dystrophy RCV000379957.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9648 0.7969 0.9846 0.9964 0.9407 0.9967 0.9830 0.9742 0.9393 0.9305 0.7982 0.9808 1 0.9394 0.9957 0.9844 0.9725 hom 4453.03 159 2 209214770 . A G 4453.03 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9463;MQ=58.40;MQ0=0;QD=28.01;VQSLOD=8.0164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4452,346,0 2 209215571 209215571 T C exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon37:c.T5511C:p.I1837I 0.028 0.064 0.014 . 0.031 0.014 0.0254 0.0546 0.0153 0.0001 0.0265 0.0258 0.0264 0.0256 0.037 0.052 0.029 0.043 0.0082 rs13020468 . . Benign Fleck_corneal_dystrophy RCV000283380.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0249 0.0552 0.0157 0.0155 0.0001 0.0266 0.0274 0.0252 0.0261 0.0320 0.0540 0.0191 0.0232 0 0.0249 0.0250 0.0367 het 1765.59 155 2 209215571 . T C 1765.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.669;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8927;MQ=59.40;MQ0=0;MQRankSum=-0.768;QD=11.39;ReadPosRankSum=0.728;VQSLOD=5.9476;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,70:155:99:1796,0,2184 2 209215586 209215586 A G exonic PIKFYVE synonymous SNV PIKFYVE:NM_015040:exon37:c.A5526G:p.E1842E 0.91 0.79 0.98 0.94 0.99 0.92 0.9596 0.7983 0.9843 0.9435 0.9965 0.9841 0.9791 0.9374 0.92 0.81 0.98 0.85 0.99 rs994697 . . Benign Fleck_corneal_dystrophy RCV000340728.1 MedGen:OMIM:Orphanet:SNOMED_CT C1562113:121850:ORPHA98970:417183007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9649 0.7971 0.9846 0.9964 0.9407 0.9967 0.9831 0.9743 0.9393 0.9306 0.7982 0.9809 1 0.9402 0.9957 0.9843 0.9725 hom 4329.53 137 2 209215586 . A G 4329.53 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=31.60;VQSLOD=9.4178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4329,331,0 2 209353800 209353800 A G exonic PTH2R synonymous SNV PTH2R:NM_001309516:exon11:c.A807G:p.V269V,PTH2R:NM_005048:exon11:c.A1140G:p.V380V 0.13 0.35 0.086 0.0069 0.064 0.05 0.0841 0.3323 0.0497 0.0074 0.0469 0.0710 0.0606 0.0609 0.16 0.33 0.071 0.12 0.049 rs16841294 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0777 0.3352 0.0504 0.0942 0.0063 0.0466 0.0707 0.0780 0.0625 0.1396 0.3354 0.0513 0.0861 0.0086 0.0475 0.0713 0.0816 hom 3221.60 105 2 209353800 . A G 3221.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.566;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8669;MQ=59.16;MQ0=0;MQRankSum=1.632;QD=30.68;ReadPosRankSum=1.699;VQSLOD=5.3978;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,104:105:99:3255,230,0 2 209358027 209358027 C T exonic PTH2R synonymous SNV PTH2R:NM_001309516:exon13:c.C963T:p.N321N,PTH2R:NM_005048:exon13:c.C1296T:p.N432N 0.74 0.86 0.81 0.54 0.78 0.7 0.7786 0.8637 0.8549 0.5201 0.7952 0.7931 0.7468 0.7193 0.81 0.86 0.78 0.77 0.7 rs3820900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7711 0.8602 0.8416 0.7457 0.5129 0.7964 0.7892 0.7765 0.7114 0.7906 0.8485 0.8282 0.7649 0.4826 0.8023 0.7857 0.7888 hom 3405.02 111 2 209358027 . C T 3405.02 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.44;MQ0=0;QD=30.68;VQSLOD=9.2858;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3404,280,0 2 211060050 211060050 T G exonic ACADL nonsynonymous SNV ACADL:NM_001608:exon9:c.A997C:p.K333Q 0.21 0.089 0.22 0.19 0.31 0.29 0.3011 0.1421 0.2254 0.2082 0.3515 0.3427 0.3326 0.3125 0.28 0.15 0.34 0.17 0.3 rs2286963 COSM4133423 1(pancreas);1(thyroid) Uncertain significance|Benign not_provided|Very_long_chain_acyl-CoA_dehydrogenase_deficiency RCV000115027.2|RCV000328841.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN221809|C0342784:201475:ORPHA26793:237996001:237997005 Metabolite levels . -13.80 20037589 rs2286963 3E-60 0.051 0.393 T 0.978 0.568 D 0.841 0.584 P 0.000 0.843 D 0.000 0.588 P 1.965 0.534 M -3.95 0.962 D -2.95 0.615 D 0.583 0.613 -1.577 0.000 T 0.000 0.000 T . . . 5.236 0.707 25.6 0.991 0.514 0.958 0.661 D c 0.597 0.608 1.000 0.747 0.487 0.133 0 5.77 0.910 7.114 0.766 1.057 0.759 1.000 0.715 0.998 0.697 16.148 0.813 Acyl-CoA dehydrogenase/oxidase C-terminal . . 0.3015 0.1391 0.2270 0.2847 0.2029 0.3589 0.3482 0.3041 0.3133 0.2831 0.1442 0.2434 0.2682 0.2027 0.3515 0.3548 0.3517 het 1327.66 106 2 211060050 . T G 1327.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.241;DP=106;Dels=0.00;FS=1.581;HRun=0;HaplotypeScore=1.6624;MQ=59.17;MQ0=0;MQRankSum=0.862;QD=12.53;ReadPosRankSum=1.721;VQSLOD=6.3833;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,51:106:99:1358,0,1362 2 211421452 211421452 - TCT exonic CPS1 nonframeshift insertion CPS1:NM_001122633:exon2:c.13_14insTCT:p.I5_K6insF 0.48 0.6 0.51 0.35 0.42 0.49 0.4350 0.5875 0.5215 0.3653 0.4210 0.4019 0.4194 0.4558 0.46 0.58 0.4 . . rs61509952 COSM4603079 14(upper_aerodigestive_tract);1(large_intestine);1(central_nervous_system) Benign|Benign not_specified|Congenital_hyperammonemia\x2c_type_I RCV000185816.2|RCV000377067.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0751753:237300:62522004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4372 0.5838 0.5213 0.4450 0.3773 0.4243 0.3969 0.4475 0.4572 0.4418 0.5763 0.5251 0.3940 0.3760 0.4139 0.3741 0.4302 het 833.52 57 2 211421452 . A ATCT 833.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.999;DP=57;FS=2.922;HRun=0;HaplotypeScore=180.0641;MQ=57.99;MQ0=0;MQRankSum=-0.973;QD=14.62;ReadPosRankSum=0.898;set=variant2 GT:AD:DP:GQ:PL 0/1:42,15:57:99:873,0,1784 2 211456637 211456637 A G exonic CPS1 nonsynonymous SNV CPS1:NM_001875:exon10:c.A1030G:p.T344A,CPS1:NM_001122633:exon11:c.A1048G:p.T350A . . . . . . 0.5697 0.6106 0.4533 0.5466 0.6286 0.5724 0.5820 0.6009 0.59 0.64 0.57 . 0.58 rs1047883 COSM4133424;COSM4133425 1(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign\x2cBenign|Likely benign not_specified|Congenital_hyperammonemia\x2c_type_I\x2cnot_specified|Congenital_hyperammonemia\x2c_type_I RCV000116829.5|RCV000364698.1\x2cRCV000275942.2|RCV000396067.1 MedGen|MedGen:OMIM:SNOMED_CT\x2cMedGen|MedGen:OMIM:SNOMED_CT CN169374|C0751753:237300:62522004\x2cCN169374|C0751753:237300:62522004 . . . . . . 0.067 0.365 T 0.001 0.067 B 0.006 0.112 B 0.001 0.415 N 0.998 0.222 P 1.495 0.376 L -2.59 0.898 D -2.88 0.605 D 0.076 0.067 -0.903 0.477 T 0.000 0.000 T . . . 0.154 0.109 4.189 0.924 0.213 0.460 0.274 N c -0.856 -0.842 0.003 0.101 0.615 0.372 0 -0.92 0.099 0.266 0.182 -1.779 0.007 0.778 0.292 0.417 0.257 12.858 0.571 Class I glutamine amidotransferase-like|Glutamine amidotransferase ENSG00000021826.10|ENSG00000021826.10|ENSG00000021826.10|ENSG00000021826.10|ENSG00000021826.10|ENSG00000021826.10 Adipose_Subcutaneous|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Lung|Skin_Sun_Exposed_Lower_leg 0.5675 0.6128 0.4705 0.6162 0.5476 0.6328 0.5668 0.5741 0.6004 0.5769 0.6195 0.4952 0.5638 0.5581 0.6195 0.5478 0.5938 het 574.02 52 2 211456637 . A G 574.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.246;DP=52;Dels=0.00;FS=1.182;HRun=0;HaplotypeScore=0.9995;MQ=57.09;MQ0=0;MQRankSum=0.234;QD=11.04;ReadPosRankSum=0.214;VQSLOD=4.4578;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,23:52:99:604,0,625 2 211456639 211456639 C T exonic CPS1 synonymous SNV CPS1:NM_001875:exon10:c.C1032T:p.T344T,CPS1:NM_001122633:exon11:c.C1050T:p.T350T 0.59 0.67 0.49 0.56 0.56 0.62 0.5736 0.6579 0.4541 0.5466 0.6276 0.5721 0.5820 0.6009 0.6 0.66 0.57 . 0.56 rs2229589 COSM5021350;COSM5021351 1(bone);1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Congenital_hyperammonemia\x2c_type_I RCV000116830.5|RCV000302372.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0751753:237300:62522004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5709 0.6638 0.4725 0.6162 0.5477 0.6320 0.5667 0.5753 0.6005 0.5896 0.6634 0.5024 0.5638 0.5581 0.6195 0.5481 0.5938 het 512.48 52 2 211456639 . C T 512.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.918;DP=52;Dels=0.00;FS=1.108;HRun=0;HaplotypeScore=0.9995;MQ=57.46;MQ0=0;MQRankSum=0.157;QD=9.86;ReadPosRankSum=0.861;VQSLOD=4.4787;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:542,0,824 2 211481257 211481257 C G exonic CPS1 synonymous SNV CPS1:NM_001122634:exon11:c.C1326G:p.G442G,CPS1:NM_001875:exon21:c.C2679G:p.G893G,CPS1:NM_001122633:exon22:c.C2697G:p.G899G 0.65 0.91 0.49 0.52 0.55 0.64 0.5861 0.8637 0.4588 0.4966 0.5725 0.5673 0.5728 0.6284 0.66 0.86 0.56 0.73 0.59 rs2287599 COSM5021353;COSM5021352 1(bone) other|Benign not_specified|Congenital_hyperammonemia\x2c_type_I RCV000116831.4|RCV000347604.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0751753:237300:62522004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5772 0.8681 0.4765 0.6228 0.4976 0.5719 0.5627 0.5764 0.6282 0.6316 0.8648 0.5155 0.5767 0.5 0.5673 0.5358 0.5680 hom 4080.06 129 2 211481257 . C G 4080.06 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4671;MQ=58.95;MQ0=0;QD=31.63;VQSLOD=8.4679;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:129:99:4080,313,0 2 212251864 212251864 T C exonic ERBB4 synonymous SNV ERBB4:NM_001042599:exon26:c.A3147G:p.V1049V,ERBB4:NM_005235:exon27:c.A3195G:p.V1065V 0.22 0.076 0.3 0.29 0.3 0.22 0.2954 0.0916 0.2589 0.3081 0.3592 0.3347 0.3046 0.2572 0.25 0.1 0.33 0.17 0.32 rs3748962 COSM3757923;COSM3757924 1(bone);1(haematopoietic_and_lymphoid_tissue);1(liver);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3004 0.0900 0.2599 0.3272 0.3112 0.3519 0.3380 0.2970 0.2627 0.2698 0.0988 0.2530 0.3841 0.3377 0.3472 0.3407 0.3010 het 2785.09 187 2 212251864 . T C 2785.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.782;DP=187;DS;Dels=0.00;FS=6.987;HRun=0;HaplotypeScore=4.8483;MQ=59.32;MQ0=0;MQRankSum=0.185;QD=14.89;ReadPosRankSum=0.941;VQSLOD=4.7951;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,99:187:99:2815,0,2165 2 214727221 214727221 A C exonic SPAG16 nonsynonymous SNV SPAG16:NM_024532:exon11:c.A1083C:p.Q361H 0.38 0.2 0.4 0.5 0.37 0.51 0.3904 0.2254 0.4316 0.4418 0.4011 0.3811 0.3425 0.4750 0.33 0.23 0.38 0.25 0.36 rs2042791 COSM149057 1(breast);1(stomach);2(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.008 0.311 N 1.000 0.182 P -1.83 0.003 N 0.37 0.577 T 6.67 0.000 N 0.185 0.226 -0.907 0.472 T 0.000 0.000 T . . . -0.743 0.043 0.058 0.099 0.001 0.019 0.058 N c -1.427 -1.264 0.000 0.042 0.554 0.246 0 -1.4 0.085 -0.665 0.053 -1.454 0.011 0.374 0.257 0.008 0.104 7.967 0.291 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000144451.14 Testis 0.3909 0.2232 0.4317 0.3090 0.4319 0.3961 0.3805 0.3712 0.4706 0.3420 0.2275 0.3935 0.3067 0.4176 0.4129 0.3796 0.3778 hom 5639.44 177 2 214727221 . A C 5639.44 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.6585;MQ=58.33;MQ0=0;QD=31.86;VQSLOD=7.1718;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5639,439,0 2 215632255 215632255 C T exonic BARD1 nonsynonymous SNV BARD1:NM_001282543:exon5:c.G1462A:p.V488M,BARD1:NM_000465:exon6:c.G1519A:p.V507M 0.37 0.36 0.31 0.34 0.4 0.41 0.3783 0.3713 0.2845 0.3685 0.4732 0.3802 0.3852 0.4078 0.28 0.29 0.28 . 0.41 rs2070094 COSM3757930;COSM3757929 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Likely benign Hereditary_cancer-predisposing_syndrome|not_specified|Breast_cancer RCV000128872.3|RCV000250250.1|RCV000336172.1 MedGen:SNOMED_CT|MedGen|MedGen C0027672:699346009|CN169374|CN221572 . . . . . . 0.269 0.161 T 0.001 0.215 B 0.005 0.176 B 0.246 0.036 N 1 0.090 P 1.23 0.308 L -0.17 0.656 T -1.27 0.320 N 0.014 0.003 -1.097 0.045 T 0.000 0.000 T . . . 0.209 0.114 4.771 0.658 0.077 0.017 0.054 N c -1.766 -1.903 1.000 0.517 0.732 0.924 0 -11.3 0.001 -5.220 0.002 -1.852 0.006 0.000 0.063 0.313 0.239 2.061 0.033 Ankyrin repeat-containing domain ENSG00000138376.6|ENSG00000229267.2|ENSG00000229267.2|ENSG00000138376.6|ENSG00000138376.6|ENSG00000138376.6 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Nerve_Tibial|Thyroid 0.3748 0.3734 0.2944 0.4152 0.3679 0.4672 0.3711 0.3575 0.4038 0.3845 0.3705 0.3103 0.4238 0.3806 0.4676 0.3741 0.4286 het 1216.60 108 2 215632255 . C T 1216.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.852;DP=108;Dels=0.00;FS=1.549;HRun=0;HaplotypeScore=0.9983;MQ=57.86;MQ0=0;MQRankSum=2.321;QD=11.26;ReadPosRankSum=1.257;VQSLOD=4.1876;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,52:108:99:1247,0,1356 2 215632256 215632256 A G exonic BARD1 synonymous SNV BARD1:NM_001282543:exon5:c.T1461C:p.H487H,BARD1:NM_000465:exon6:c.T1518C:p.H506H 0.77 0.55 0.76 0.95 0.82 0.84 0.8134 0.5989 0.8250 0.9539 0.8980 0.8113 0.8190 0.8412 0.71 0.58 0.78 0.32 0.81 rs2070093 . . Benign|Benign|Likely benign Hereditary_cancer-predisposing_syndrome|not_specified|Breast_cancer RCV000162380.1|RCV000245092.1|RCV000399697.1 MedGen:SNOMED_CT|MedGen|MedGen C0027672:699346009|CN169374|CN221572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8177 0.5952 0.8163 0.8259 0.9529 0.8931 0.8063 0.7955 0.8421 0.7658 0.6055 0.7883 0.7848 0.9543 0.8947 0.8028 0.8286 het 1237.55 107 2 215632256 . A G 1237.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.282;DP=107;Dels=0.00;FS=0.727;HRun=0;HaplotypeScore=0.9983;MQ=57.84;MQ0=0;MQRankSum=1.711;QD=11.57;ReadPosRankSum=0.994;VQSLOD=4.6147;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,52:107:99:1268,0,1329 2 215645503 215645523 TGGTGAAGAACATTCAGGCAA - exonic BARD1 nonframeshift deletion BARD1:NM_001282543:exon3:c.1018_1038del:p.L340_P346del,BARD1:NM_000465:exon4:c.1075_1095del:p.L359_P365del . . . . . . 0.0293 0.0418 0.0350 0.0431 0.0033 0.0166 0.0341 0.0717 . . . . . rs587781282 . . Benign|Benign Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast RCV000128959.3|RCV000197321.2 MedGen:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT C0027672:699346009|C0346153:114480:ORPHA227535:254843006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0287 0.0432 0.0338 0.0116 0.0443 0.0034 0.0178 0.0334 0.0699 0.0238 0.0372 0.0383 0.0132 0.0433 0.0031 0.0179 0.0266 het 2345.03 78 2 215645502 . GTGGTGAAGAACATTCAGGCAA G 2345.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.100;DP=78;FS=1.088;HRun=0;HaplotypeScore=1330.3642;MQ=53.18;MQ0=0;MQRankSum=-4.678;QD=30.06;ReadPosRankSum=1.892;set=variant2 GT:AD:DP:GQ:PL 0/1:61,17:78:99:2384,0,12410 2 215674224 215674224 G A exonic BARD1 nonsynonymous SNV BARD1:NM_000465:exon1:c.C70T:p.P24S,BARD1:NM_001282543:exon1:c.C70T:p.P24S,BARD1:NM_001282545:exon1:c.C70T:p.P24S,BARD1:NM_001282548:exon1:c.C70T:p.P24S,BARD1:NM_001282549:exon1:c.C70T:p.P24S 0.33 0.19 0.4 0.33 0.39 0.4 0.4377 0.2830 0.4848 0.4161 0.4866 0.4443 0.4283 0.4407 0.3 0.22 0.35 0.22 0.2 rs1048108 COSM1482743;COSM442275 1(thyroid);1(large_intestine) Benign|Benign|Likely benign Hereditary_cancer-predisposing_syndrome|not_specified|Breast_cancer RCV000162363.2|RCV000245618.1|RCV000372881.1 MedGen:SNOMED_CT|MedGen|MedGen C0027672:699346009|CN169374|CN221572 . . . . . . 0.184 0.912 T 0.002 0.090 B 0.005 0.104 B 0.000 0.447 D 0.608 0.588 P 1.195 0.303 L -0.72 0.849 T -1.19 0.303 N 0.109 0.117 -1.043 0.165 T 0.000 0.000 T . . . 1.242 0.214 11.97 0.997 0.825 0.263 0.227 N c -0.507 -0.404 1.000 0.747 0.442 0.072 0 3.1 0.346 0.990 0.290 0.880 0.385 0.726 0.286 0.116 0.195 5.315 0.151 . ENSG00000138376.6|ENSG00000138376.6|ENSG00000229267.2|ENSG00000229267.2|ENSG00000138376.6|ENSG00000138376.6|ENSG00000138376.6|ENSG00000138376.6|ENSG00000138376.6|ENSG00000138376.6 Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.3842 0.2181 0.4331 0.4241 0.3594 0.4128 0.3776 0.3649 0.4095 0.3408 0.2121 0.4141 0.41 0.3779 0.4177 0.3819 0.4378 het 227.87 19 2 215674224 . G A 227.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.755;DP=19;Dels=0.00;FS=6.767;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.286;QD=11.99;ReadPosRankSum=0.367;VQSLOD=4.5272;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:258,0,259 2 215802308 215802308 A G exonic ABCA12 synonymous SNV ABCA12:NM_015657:exon43:c.T6514C:p.L2172L,ABCA12:NM_173076:exon51:c.T7468C:p.L2490L 0.0016 . 0.0029 . 0.003 0.0031 0.0016 0.0003 0.0018 0.0002 0 0.0019 0.0033 0.0019 0.0016 0.0002 0.0023 . . rs149561952 . . Uncertain significance Congenital_ichthyosiform_erythroderma RCV000289530.1 Human_Phenotype_Ontology:MedGen HP:0007431:C0079583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0017 0.0001 0.0016 0.0136 0.0001 0 0.0012 0.0035 0.0019 0.0011 0.0003 0.0024 0.0066 0.0006 0.0003 0.0015 0.0010 het 1096.90 83 2 215802308 . A G 1096.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.898;DP=83;Dels=0.00;FS=1.828;HRun=1;HaplotypeScore=0.9958;MQ=58.64;MQ0=0;MQRankSum=-0.287;QD=13.22;ReadPosRankSum=-0.169;VQSLOD=4.5210;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,43:83:99:1127,0,959 2 215820013 215820013 G A exonic ABCA12 synonymous SNV ABCA12:NM_015657:exon35:c.C5352T:p.Y1784Y,ABCA12:NM_173076:exon43:c.C6306T:p.Y2102Y 0.35 0.3 0.39 0.23 0.4 0.46 0.4051 0.3127 0.3855 0.2320 0.4269 0.4250 0.4196 0.4772 0.38 0.32 0.42 0.4 0.45 rs10498027 COSM4783671;COSM3757935 1(large_intestine) Benign|Benign\x2cUncertain significance not_specified|Congenital_ichthyosiform_erythroderma\x2cCongenital_ichthyosiform_erythroderma RCV000254526.1|RCV000300175.1\x2cRCV000357340.1 MedGen|Human_Phenotype_Ontology:MedGen\x2cHuman_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583\x2cHP:0007431:C0079583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4065 0.3084 0.3983 0.5131 0.2359 0.4212 0.4172 0.4108 0.4751 0.3822 0.3111 0.3911 0.5199 0.2361 0.4210 0.4222 0.4562 het 866.12 97 2 215820013 . G A 866.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.917;DP=97;Dels=0.00;FS=1.690;HRun=0;HaplotypeScore=5.4455;MQ=59.62;MQ0=0;MQRankSum=-0.026;QD=8.93;ReadPosRankSum=1.810;VQSLOD=4.3708;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,40:97:99:896,0,1407 2 215865575 215865575 T C exonic ABCA12 synonymous SNV ABCA12:NM_015657:exon14:c.A2079G:p.P693P,ABCA12:NM_173076:exon22:c.A3033G:p.P1011P 0.2 0.017 0.19 0.34 0.28 0.2 0.2331 0.0434 0.1565 0.3703 0.3523 0.2589 0.2577 0.1811 0.19 0.05 0.25 0.21 0.23 rs10498030 COSM4415427;COSM4415426 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Congenital_ichthyosiform_erythroderma RCV000253107.1|RCV000315754.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2360 0.0390 0.1640 0.2011 0.3755 0.3477 0.2595 0.2381 0.1789 0.2189 0.0473 0.1962 0.2053 0.3773 0.3392 0.2729 0.2556 het 1871.31 133 2 215865575 . T C 1871.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.190;DP=133;Dels=0.00;FS=5.241;HRun=0;HaplotypeScore=1.9164;MQ=58.91;MQ0=0;MQRankSum=1.276;QD=14.07;ReadPosRankSum=1.551;VQSLOD=5.2708;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,72:133:99:1901,0,1586 2 215876166 215876166 A T exonic ABCA12 nonsynonymous SNV ABCA12:NM_015657:exon9:c.T1375A:p.S459T,ABCA12:NM_173076:exon17:c.T2329A:p.S777T 1. 0.99 1. 1. 1. 1. 0.9994 0.9934 0.9997 1 1 1.0000 1 1 1. 0.99 1. 1. 0.9 rs7560008 . . Benign|Benign not_specified|Congenital_ichthyosiform_erythroderma RCV000248760.1|RCV000319091.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583 . . . . . . 0.403 0.151 T 0.0 0.026 B 0.001 0.121 B 0.975 0.081 N 1 0.090 P 1.005 0.253 L 2.75 0.116 T -0.67 0.193 N 0.022 0.005 -1.000 0.300 T 0.000 0.000 T . . . -0.677 0.046 0.082 0.128 0.002 0.004 0.020 N c -1.411 -1.440 0.000 0.042 0.554 0.283 0 -2.88 0.053 -1.351 0.027 -0.221 0.097 0.022 0.197 0.004 0.083 4.455 0.110 . . . 0.9995 0.9932 0.9996 1 1 1 1.0000 0.9998 1.0000 0.9980 0.9932 0.9988 1 1 1 0.9999 1 hom 1072.77 38 2 215876166 . A T 1072.77 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=28.23;VQSLOD=7.3983;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,37:38:93.23:1106,93,0 2 216235089 216235089 C T exonic FN1 nonsynonymous SNV FN1:NM_212474:exon39:c.G5878A:p.V1960I,FN1:NM_212476:exon39:c.G6238A:p.V2080I,FN1:NM_001306130:exon40:c.G6151A:p.V2051I,FN1:NM_001306131:exon40:c.G6145A:p.V2049I,FN1:NM_001306132:exon40:c.G6070A:p.V2024I,FN1:NM_002026:exon41:c.G6415A:p.V2139I,FN1:NM_212478:exon41:c.G6340A:p.V2114I,FN1:NM_212482:exon41:c.G6781A:p.V2261I,FN1:NM_001306129:exon42:c.G6688A:p.V2230I 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs1250209 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.174 B 0.002 0.179 B 0.000 0.629 N 0.998 0.810 P -0.455 0.028 N 0.29 0.589 T 0.19 0.066 N 0.165 0.309 -0.928 0.444 T 0.000 0.000 T . . . 3.072 0.429 22.4 0.918 0.205 0.526 0.289 D c -0.729 -0.429 1.000 0.747 0.732 0.924 0 5.6 0.849 4.715 0.614 0.154 0.240 1.000 0.715 0.999 0.750 11.650 0.504 Fibronectin type III;Fibronectin type III|Immunoglobulin-like fold;Fibronectin\x2c type I . . 1.0000 0.9997 1 1 1 1 1.0000 1 1 0.9998 0.9994 1 1 1 1 1 1 hom 2631.88 87 2 216235089 . C T 2631.88 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.82;MQ0=0;QD=30.25;VQSLOD=9.1978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:87:99:2665,208,0 2 216242917 216242917 T A exonic FN1 synonymous SNV FN1:NM_001306131:exon33:c.A5148T:p.G1716G,FN1:NM_001306132:exon33:c.A5148T:p.G1716G,FN1:NM_212474:exon33:c.A5148T:p.G1716G,FN1:NM_212476:exon33:c.A5148T:p.G1716G,FN1:NM_001306130:exon34:c.A5421T:p.G1807G,FN1:NM_002026:exon34:c.A5418T:p.G1806G,FN1:NM_212478:exon34:c.A5418T:p.G1806G,FN1:NM_001306129:exon35:c.A5691T:p.G1897G,FN1:NM_212482:exon35:c.A5691T:p.G1897G 0.32 0.06 0.39 0.77 0.25 0.26 0.2868 0.0883 0.4418 0.7818 0.2450 0.2406 0.2925 0.2473 0.19 0.091 0.24 0.25 0.23 rs1132741 COSM149058;COSM5653942 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3004 0.0831 0.4382 0.3631 0.7776 0.2372 0.2366 0.3019 0.2474 0.2265 0.0876 0.3726 0.39 0.7924 0.2491 0.2271 0.2684 het 862.89 121 2 216242917 . T A 862.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.579;DP=121;Dels=0.00;FS=2.568;HRun=0;HaplotypeScore=5.3777;MQ=58.71;MQ0=0;MQRankSum=0.961;QD=7.13;ReadPosRankSum=1.094;VQSLOD=3.5606;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,40:121:99:893,0,2187 2 216249587 216249587 C T exonic FN1 synonymous SNV FN1:NM_001306131:exon28:c.G4452A:p.E1484E,FN1:NM_001306132:exon28:c.G4452A:p.E1484E,FN1:NM_002026:exon28:c.G4452A:p.E1484E,FN1:NM_212474:exon28:c.G4452A:p.E1484E,FN1:NM_212476:exon28:c.G4452A:p.E1484E,FN1:NM_212478:exon28:c.G4452A:p.E1484E,FN1:NM_001306129:exon29:c.G4725A:p.E1575E,FN1:NM_001306130:exon29:c.G4725A:p.E1575E,FN1:NM_212482:exon29:c.G4725A:p.E1575E 0.87 0.78 0.89 1. 0.88 0.83 0.8752 0.8014 0.9269 0.9986 0.9239 0.8720 0.8587 0.8151 0.85 0.8 0.87 0.81 0.89 rs13652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8800 0.8054 0.9185 0.8429 0.9988 0.9221 0.8742 0.8671 0.8133 0.8734 0.8131 0.8890 0.8046 1 0.9270 0.8818 0.8890 hom 3717.56 123 2 216249587 . C T 3717.56 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3868;MQ=59.62;MQ0=0;QD=30.22;VQSLOD=8.4558;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,122:123:99:3690,283,0 2 216272900 216272900 T G exonic FN1 nonsynonymous SNV FN1:NM_001306129:exon17:c.A2449C:p.T817P,FN1:NM_001306130:exon17:c.A2449C:p.T817P,FN1:NM_001306131:exon17:c.A2449C:p.T817P,FN1:NM_001306132:exon17:c.A2449C:p.T817P,FN1:NM_002026:exon17:c.A2449C:p.T817P,FN1:NM_212474:exon17:c.A2449C:p.T817P,FN1:NM_212476:exon17:c.A2449C:p.T817P,FN1:NM_212478:exon17:c.A2449C:p.T817P,FN1:NM_212482:exon17:c.A2449C:p.T817P 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 1. 1. 1. 1. 0.97 rs2577301 . . . . . . . . . . . . . 0.314 0.384 T 0.0 0.026 B 0.0 0.040 B 0.000 0.504 N 1.000 0.197 P -0.69 0.019 N 0.51 0.555 T 0.55 0.075 N 0.107 0.207 -0.957 0.398 T 0.000 0.000 T . . . 1.626 0.257 14.00 0.955 0.264 0.278 0.232 N c -0.403 -0.225 1.000 0.747 0.706 0.609 0 5.93 0.959 5.087 0.641 0.136 0.221 1.000 0.715 0.070 0.176 16.742 0.853 Fibronectin type III|Immunoglobulin-like fold . . 1.0000 0.9999 1 1 1 1 1 1 1 0.9998 0.9995 0.9988 1 1 1 1 1 hom 4908.41 148 2 216272900 . T G 4908.41 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8743;MQ=59.41;MQ0=0;QD=33.16;VQSLOD=8.5501;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4908,385,0 2 216272907 216272907 A T exonic FN1 synonymous SNV FN1:NM_001306129:exon17:c.T2442A:p.P814P,FN1:NM_001306130:exon17:c.T2442A:p.P814P,FN1:NM_001306131:exon17:c.T2442A:p.P814P,FN1:NM_001306132:exon17:c.T2442A:p.P814P,FN1:NM_002026:exon17:c.T2442A:p.P814P,FN1:NM_212474:exon17:c.T2442A:p.P814P,FN1:NM_212476:exon17:c.T2442A:p.P814P,FN1:NM_212478:exon17:c.T2442A:p.P814P,FN1:NM_212482:exon17:c.T2442A:p.P814P 0.42 0.22 0.47 0.93 0.28 0.28 0.3394 0.2283 0.5329 0.9220 0.3116 0.2650 0.3337 0.2808 0.25 0.23 0.26 0.45 0.23 rs7596677 COSM5021355;COSM5021354 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3523 0.2235 0.5239 0.3608 0.9244 0.3050 0.2594 0.3379 0.2790 0.2924 0.2128 0.4557 0.3675 0.9243 0.3105 0.2552 0.3014 het 1570.51 143 2 216272907 . A T 1570.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.748;DP=143;Dels=0.00;FS=4.185;HRun=0;HaplotypeScore=5.8212;MQ=59.38;MQ0=0;MQRankSum=0.953;QD=10.98;ReadPosRankSum=-0.910;VQSLOD=4.0216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,63:143:99:1601,0,2165 2 216298084 216298084 G A exonic FN1 synonymous SNV FN1:NM_001306129:exon3:c.C378T:p.I126I,FN1:NM_001306130:exon3:c.C378T:p.I126I,FN1:NM_001306131:exon3:c.C378T:p.I126I,FN1:NM_001306132:exon3:c.C378T:p.I126I,FN1:NM_002026:exon3:c.C378T:p.I126I,FN1:NM_054034:exon3:c.C378T:p.I126I,FN1:NM_212474:exon3:c.C378T:p.I126I,FN1:NM_212476:exon3:c.C378T:p.I126I,FN1:NM_212478:exon3:c.C378T:p.I126I,FN1:NM_212482:exon3:c.C378T:p.I126I 0.14 0.25 0.14 0.001 0.24 0.04 0.1840 0.2444 0.0970 0.0021 0.2672 0.2394 0.1949 0.0446 0.24 0.24 0.24 0.15 0.23 rs2289202 COSM3757939;COSM3757937;COSM3757938 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1788 0.2451 0.1009 0.1338 0.0023 0.2639 0.2430 0.1994 0.0459 0.2288 0.2432 0.1325 0.1258 0.0043 0.2596 0.2447 0.2342 het 2860.03 236 2 216298084 . G A 2860.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.805;DP=236;DS;Dels=0.00;FS=2.903;HRun=1;HaplotypeScore=6.1577;MQ=59.28;MQ0=0;MQRankSum=0.045;QD=12.12;ReadPosRankSum=-0.211;VQSLOD=5.0795;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,110:236:99:2890,0,3237 2 216300482 216300482 T A exonic FN1 nonsynonymous SNV FN1:NM_001306129:exon1:c.A44T:p.Q15L,FN1:NM_001306130:exon1:c.A44T:p.Q15L,FN1:NM_001306131:exon1:c.A44T:p.Q15L,FN1:NM_001306132:exon1:c.A44T:p.Q15L,FN1:NM_002026:exon1:c.A44T:p.Q15L,FN1:NM_054034:exon1:c.A44T:p.Q15L,FN1:NM_212474:exon1:c.A44T:p.Q15L,FN1:NM_212476:exon1:c.A44T:p.Q15L,FN1:NM_212478:exon1:c.A44T:p.Q15L,FN1:NM_212482:exon1:c.A44T:p.Q15L 0.8 0.9 0.79 0.92 0.77 0.55 0.7691 0.8811 0.7733 0.9199 0.8193 0.7666 0.7599 0.6154 0.79 0.87 0.75 0.67 0.56 rs1250259 COSM3757941;COSM3757940;COSM3757942 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.131 B 0.0 0.133 B 0.088 0.205 N 1.000 0.192 P -0.895 0.014 N 1.28 0.360 T 1.02 0.033 N 0.102 0.117 -0.961 0.390 T 0.000 0.000 T . . . 1.570 0.250 13.69 0.882 0.173 0.014 0.046 N c -0.932 -0.621 1.000 0.747 0.726 0.872 0 5.35 0.762 3.533 0.531 0.125 0.212 1.000 0.715 0.947 0.422 11.474 0.493 . . . 0.7565 0.8759 0.7694 0.8077 0.9236 0.7991 0.7413 0.7714 0.5980 0.7912 0.8614 0.7613 0.8013 0.9302 0.7946 0.7365 0.7811 hom 935.59 27 2 216300482 . T A 935.59 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.65;VQSLOD=13.5678;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:78.23:969,78,0 2 216908679 216908679 C T exonic PECR synonymous SNV PECR:NM_018441:exon7:c.G774A:p.S258S 0.14 0.043 0.15 0.12 0.23 0.19 0.2037 0.0690 0.1436 0.1004 0.2769 0.2450 0.2238 0.1879 0.19 0.079 0.25 0.11 0.22 rs2303842 COSM149060 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2044 0.0664 0.1456 0.1507 0.0981 0.2820 0.2524 0.1968 0.1854 0.1902 0.0720 0.1435 0.1490 0.0928 0.2751 0.2516 0.2149 het 840.79 60 2 216908679 . C T 840.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.581;DP=60;Dels=0.00;FS=5.157;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.431;QD=14.01;ReadPosRankSum=0.565;VQSLOD=5.9711;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,33:60:99:871,0,695 2 217012901 217012901 A G exonic XRCC5 synonymous SNV XRCC5:NM_021141:exon14:c.A1572G:p.T524T 0.88 0.88 0.9 0.93 0.87 0.83 0.8710 0.8792 0.8872 0.9229 0.9149 0.8689 0.8756 0.8175 0.87 0.88 0.87 0.89 0.83 rs207906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8760 0.8770 0.8922 0.8817 0.9210 0.9220 0.8704 0.8693 0.8191 0.8815 0.8683 0.9093 0.8742 0.9220 0.9187 0.8729 0.9083 het 1528.64 115 2 217012901 . A G 1528.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.933;DP=115;Dels=0.00;FS=7.444;HRun=0;HaplotypeScore=2.4344;MQ=60.00;MQ0=0;MQRankSum=1.541;QD=13.29;ReadPosRankSum=-1.032;VQSLOD=4.3440;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,57:115:99:1559,0,1535 2 217148417 217148417 C A exonic MARCH4 synonymous SNV MARCH4:NM_020814:exon2:c.G552T:p.S184S 0.44 0.31 0.43 0.43 0.49 0.55 0.4719 0.3338 0.3936 0.4276 0.5864 0.4845 0.4978 0.5380 0.43 0.33 0.48 0.39 0.46 rs876771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4725 0.3246 0.4019 0.4666 0.4176 0.5969 0.4810 0.4750 0.5343 0.4509 0.3204 0.3652 0.43 0.4217 0.5986 0.4966 0.5133 het 1260.33 75 2 217148417 . C A 1260.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.594;DP=75;Dels=0.00;FS=7.628;HRun=0;HaplotypeScore=0.9993;MQ=59.69;MQ0=0;MQRankSum=0.494;QD=16.80;ReadPosRankSum=0.971;VQSLOD=4.3205;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:1290,0,862 2 217315787 217315787 T C exonic SMARCAL1 synonymous SNV SMARCAL1:NM_001127207:exon12:c.T2070C:p.T690T,SMARCAL1:NM_014140:exon12:c.T2070C:p.T690T 0.085 0.043 0.048 0.0079 0.1 0.22 0.1138 0.0490 0.0414 0.0064 0.1535 0.1248 0.1122 0.1989 0.1 0.049 0.13 0.087 0.21 rs2066527 COSM442296 1(haematopoietic_and_lymphoid_tissue);1(skin) Benign|Likely benign not_specified|Schimke_immunoosseous_dysplasia RCV000251280.1|RCV000293182.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0877024:242900:ORPHA1830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1098 0.0451 0.0436 0.0798 0.0059 0.1539 0.1251 0.0992 0.1967 0.1035 0.0468 0.0467 0.0795 0.0080 0.1509 0.1388 0.1130 het 710.21 57 2 217315787 . T C 710.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.382;DP=57;Dels=0.00;FS=1.267;HRun=1;HaplotypeScore=0.0000;MQ=58.41;MQ0=0;MQRankSum=0.072;QD=12.46;ReadPosRankSum=-0.088;VQSLOD=5.7464;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,29:57:99:740,0,733 2 217541582 217541582 T C exonic IGFBP5 synonymous SNV IGFBP5:NM_000599:exon4:c.A711G:p.K237K 0.98 0.93 0.99 1. 1. 1. 0.9942 0.9378 0.9967 1 1 0.9997 0.9978 0.9999 0.98 0.94 1. 0.84 0.99 rs2160549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9952 0.9361 0.9967 1 1 1.0000 0.9996 0.9967 0.9998 0.9820 0.9382 0.9905 1 1 1 0.9995 0.9980 hom 7647.63 223 2 217541582 . T C 7647.63 Mask AC=2;AF=1.00;AN=2;DP=223;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.33;MQ0=0;QD=34.29;VQSLOD=9.0970;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:7647,605,0 2 218674697 218674697 C T exonic TNS1 nonsynonymous SNV TNS1:NM_001308023:exon27:c.G4747A:p.V1583I,TNS1:NM_001308022:exon28:c.G4768A:p.V1590I,TNS1:NM_022648:exon30:c.G4810A:p.V1604I 0.61 0.81 0.59 0.51 0.59 0.49 0.5949 0.7765 0.6295 0.5022 0.5499 0.6060 0.6071 0.4768 0.66 0.77 0.61 0.64 0.55 rs918949 COSM5001898 1(bone);1(pancreas);1(skin) . . . . . . . . . . . 0.873 0.030 T 0.0 0.026 B 0.003 0.080 B 0.029 0.255 N 0.999 0.213 P -1.935 0.002 N 0.97 0.425 T 0.58 0.026 N 0.065 0.080 -0.934 0.435 T 0.000 0.000 T . . . 0.416 0.134 6.751 0.593 0.060 0.466 0.276 N c -1.415 -1.289 1.000 0.451 0.707 0.730 0 -4.71 0.030 0.475 0.217 0.841 0.343 0.997 0.399 0.998 0.697 15.396 0.744 PH domain-like|PTB/PI domain|Tensin phosphotyrosine-binding domain;SH2 domain . . 0.5942 0.7778 0.6352 0.6735 0.5094 0.5428 0.6047 0.6099 0.4766 0.6406 0.7723 0.6547 0.6424 0.5434 0.5446 0.5994 0.5871 hom 2953.49 96 2 218674697 . C T 2953.49 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.42;MQ0=0;QD=30.77;VQSLOD=8.2193;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2986,232,0 2 218682474 218682474 A G exonic TNS1 synonymous SNV TNS1:NM_001308023:exon21:c.T4206C:p.S1402S,TNS1:NM_001308022:exon22:c.T4230C:p.S1410S,TNS1:NM_022648:exon24:c.T4269C:p.S1423S 0.38 0.4 0.43 0.25 0.41 0.41 0.4032 0.3929 0.4504 0.2620 0.3871 0.4169 0.4238 0.3998 0.41 0.39 0.41 0.32 0.41 rs12694422 COSM4419196 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4034 0.3942 0.4530 0.4423 0.2605 0.3846 0.4128 0.4143 0.3989 0.3897 0.3889 0.4570 0.4106 0.2854 0.3955 0.3948 0.4057 het 1736.08 133 2 218682474 . A G 1736.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.581;DP=133;Dels=0.00;FS=8.788;HRun=0;HaplotypeScore=1.9966;MQ=59.32;MQ0=0;MQRankSum=0.857;QD=13.05;ReadPosRankSum=-0.715;VQSLOD=4.9016;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,73:133:99:1766,0,1718 2 218682771 218682771 A G exonic TNS1 synonymous SNV TNS1:NM_001308023:exon21:c.T3909C:p.G1303G,TNS1:NM_001308022:exon22:c.T3933C:p.G1311G,TNS1:NM_022648:exon24:c.T3972C:p.G1324G 0.33 0.24 0.41 0.25 0.41 0.41 0.4140 0.2621 0.4874 0.2960 0.4212 0.4400 0.4464 0.4116 0.34 0.23 0.4 0.29 0.21 rs3796026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3881 0.2342 0.4431 0.4402 0.2549 0.3792 0.4070 0.4055 0.3966 0.3454 0.2357 0.4463 0.4106 0.2811 0.3959 0.3938 0.4029 het 147.76 18 2 218682771 . A G 147.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DP=18;Dels=0.00;FS=2.003;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.489;QD=8.21;ReadPosRankSum=-1.821;VQSLOD=5.4284;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:178,0,293 2 218683154 218683154 A G exonic TNS1 nonsynonymous SNV TNS1:NM_001308023:exon21:c.T3526C:p.W1176R,TNS1:NM_001308022:exon22:c.T3550C:p.W1184R,TNS1:NM_022648:exon24:c.T3589C:p.W1197R 0.66 0.84 0.62 0.62 0.59 0.56 0.6196 0.8082 0.6433 0.6221 0.5495 0.6101 0.6278 0.5486 0.68 0.8 0.61 0.65 0.54 rs2571445 . . . . . . . Pulmonary function . .07 20010834 rs2571445 1E-12 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.043 0.238 N 1.000 0.204 P -2.22 0.001 N -2.55 0.896 D 3.82 0.001 N 0.087 0.083 -0.945 0.418 T 0.000 0.000 T . . . 0.285 0.121 5.551 0.620 0.067 0.148 0.184 N c -0.924 -0.676 1.000 0.434 0.563 0.310 0 3.71 0.416 2.696 0.465 0.138 0.222 1.000 0.715 0.509 0.272 7.287 0.254 . . . 0.6171 0.8126 0.6465 0.6543 0.6215 0.5428 0.6103 0.6206 0.5512 0.6576 0.8089 0.6463 0.6424 0.6422 0.5447 0.6022 0.6045 hom 3194.03 108 2 218683154 . A G 3194.03 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5463;MQ=59.57;MQ0=0;QD=29.57;VQSLOD=7.8744;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3227,268,0 2 218683257 218683257 A G exonic TNS1 synonymous SNV TNS1:NM_001308023:exon21:c.T3423C:p.A1141A,TNS1:NM_001308022:exon22:c.T3447C:p.A1149A,TNS1:NM_022648:exon24:c.T3486C:p.A1162A 0.4 0.5 0.43 0.25 0.41 0.41 0.4081 0.4626 0.4510 0.2574 0.3852 0.4169 0.4251 0.3946 0.43 0.46 0.41 0.37 0.41 rs2571442 COSM4133431 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4081 0.4630 0.4548 0.4517 0.2570 0.3840 0.4131 0.4175 0.3982 0.4084 0.4532 0.4582 0.4205 0.2831 0.3952 0.3952 0.4175 het 1037.04 76 2 218683257 . A G 1037.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.899;DP=76;Dels=0.00;FS=10.380;HRun=1;HaplotypeScore=0.7887;MQ=59.70;MQ0=0;MQRankSum=-0.848;QD=13.65;ReadPosRankSum=1.774;VQSLOD=3.7149;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,36:76:99:1067,0,1111 2 218683368 218683368 C T exonic TNS1 synonymous SNV TNS1:NM_001308023:exon21:c.G3312A:p.P1104P,TNS1:NM_001308022:exon22:c.G3336A:p.P1112P,TNS1:NM_022648:exon24:c.G3375A:p.P1125P 0.22 0.064 0.32 0.23 0.27 0.28 0.2731 0.0856 0.3812 0.2442 0.2126 0.2930 0.2715 0.2733 0.23 0.091 0.3 0.18 0.27 rs34144104 COSM442299 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2778 0.0801 0.3791 0.2657 0.2444 0.2165 0.2934 0.2859 0.2752 0.2145 0.0827 0.3711 0.2053 0.2713 0.2225 0.2713 0.2658 het 812.13 68 2 218683368 . C T 812.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.537;DP=68;Dels=0.00;FS=2.018;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.911;QD=11.94;ReadPosRankSum=0.148;VQSLOD=5.7546;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:842,0,947 2 218712306 218712306 C T exonic TNS1 synonymous SNV TNS1:NM_001308022:exon16:c.G2559A:p.A853A,TNS1:NM_001308023:exon16:c.G2559A:p.A853A,TNS1:NM_022648:exon17:c.G2559A:p.A853A 0.43 0.62 0.31 0.34 0.35 0.45 0.3530 0.5852 0.2610 0.3417 0.3472 0.3183 0.3271 0.4623 0.4 0.56 0.31 0.52 0.29 rs1004814 COSM3766536 4(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3522 0.5848 0.2750 0.3832 0.3428 0.3482 0.3179 0.3428 0.4479 0.4012 0.5847 0.3055 0.3940 0.3389 0.3377 0.3260 0.3299 het 1525.51 136 2 218712306 . C T 1525.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.895;DP=136;DS;Dels=0.00;FS=1.474;HRun=1;HaplotypeScore=4.1793;MQ=59.04;MQ0=0;MQRankSum=-1.158;QD=11.22;ReadPosRankSum=-0.648;VQSLOD=5.4652;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,62:136:99:1556,0,1791 2 218712606 218712606 G A exonic TNS1 synonymous SNV TNS1:NM_001308022:exon16:c.C2259T:p.S753S,TNS1:NM_001308023:exon16:c.C2259T:p.S753S,TNS1:NM_022648:exon17:c.C2259T:p.S753S 0.44 0.62 0.32 0.34 0.35 0.45 0.3582 0.5959 0.2617 0.3395 0.3456 0.3226 0.3321 0.4696 0.4 0.56 0.31 0.52 0.25 rs1364641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3514 0.5863 0.2714 0.3815 0.3406 0.3465 0.3186 0.3452 0.4473 0.4014 0.5877 0.3050 0.3940 0.3350 0.3379 0.3252 0.3303 het 320.48 26 2 218712606 . G A 320.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-0.359;QD=12.33;ReadPosRankSum=1.436;VQSLOD=6.5324;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,13:26:99:350,0,418 2 218712726 218712726 A G exonic TNS1 synonymous SNV TNS1:NM_001308022:exon16:c.T2139C:p.N713N,TNS1:NM_001308023:exon16:c.T2139C:p.N713N,TNS1:NM_022648:exon17:c.T2139C:p.N713N 0.44 0.62 0.32 0.35 0.35 0.45 0.3518 0.5923 0.2611 0.3426 0.3474 0.3180 0.3274 0.4515 0.4 0.56 0.31 0.52 0.33 rs1364642 COSM4001498 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3526 0.5870 0.2757 0.3749 0.3430 0.3477 0.3171 0.3440 0.4499 0.4017 0.5880 0.3050 0.3933 0.3399 0.3376 0.3255 0.3289 het 1222.14 86 2 218712726 . A G 1222.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.144;DP=86;Dels=0.00;FS=1.771;HRun=0;HaplotypeScore=6.8708;MQ=59.13;MQ0=0;MQRankSum=1.475;QD=14.21;ReadPosRankSum=0.685;VQSLOD=4.7516;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:39,47:86:99:1252,0,896 2 218713282 218713282 G A exonic TNS1 nonsynonymous SNV TNS1:NM_001308022:exon16:c.C1583T:p.T528I,TNS1:NM_001308023:exon16:c.C1583T:p.T528I,TNS1:NM_022648:exon17:c.C1583T:p.T528I 0.41 0.6 0.31 0.29 0.35 0.43 0.3454 0.5594 0.2563 0.2848 0.3423 0.3135 0.3194 0.4373 0.39 0.54 0.31 0.49 0.33 rs3796033 COSM4001500;COSM4001499 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.079 0.424 T 0.013 0.404 B 0.008 0.333 B 0.037 0.244 N 0.981 0.251 P 1.995 0.543 M -2.86 0.941 D -1.77 0.435 N 0.108 0.514 -0.906 0.474 T 0.000 0.000 T . . . 1.658 0.261 14.17 0.995 0.664 0.813 0.404 D c -0.150 -0.076 1.000 0.747 0.722 0.854 0 2.37 0.282 2.221 0.423 1.048 0.713 0.992 0.373 1.000 0.888 7.240 0.251 . ENSG00000079308.12 Whole_Blood 0.3385 0.5587 0.2660 0.3635 0.2881 0.3406 0.3103 0.3349 0.4292 0.3872 0.5609 0.2971 0.3841 0.2816 0.3321 0.3196 0.3238 het 1566.90 125 2 218713282 . G A 1566.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.486;DP=125;Dels=0.00;FS=6.064;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.323;QD=12.54;ReadPosRankSum=-0.467;VQSLOD=5.6697;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,62:125:99:1597,0,1706 2 218745685 218745685 G A exonic TNS1 synonymous SNV TNS1:NM_001308022:exon15:c.C990T:p.S330S,TNS1:NM_001308023:exon15:c.C990T:p.S330S,TNS1:NM_022648:exon16:c.C990T:p.S330S 0.53 0.58 0.54 0.53 0.61 0.37 0.5426 0.5881 0.4457 0.5398 0.5458 0.5933 0.5442 0.3774 0.6 0.59 0.6 0.45 0.55 rs10199795 COSM3757946;COSM149063 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5411 0.5876 0.4619 0.5355 0.5438 0.5599 0.5993 0.5524 0.3777 0.5658 0.5740 0.4844 0.5762 0.5174 0.5430 0.5772 0.5479 het 2160.27 144 2 218745685 . G A 2160.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.892;DP=144;Dels=0.00;FS=6.064;HRun=0;HaplotypeScore=1.9975;MQ=59.48;MQ0=0;MQRankSum=1.285;QD=15.00;ReadPosRankSum=-0.907;VQSLOD=4.9050;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,80:144:99:2190,0,1756 2 218758200 218758200 T G exonic TNS1 nonsynonymous SNV TNS1:NM_001308022:exon7:c.A304C:p.N102H,TNS1:NM_001308023:exon7:c.A304C:p.N102H,TNS1:NM_022648:exon8:c.A304C:p.N102H 0.013 0.0023 0.0086 . 0.02 0.035 0.0233 0.0038 0.0087 0.0002 0.0534 0.0236 0.0290 0.0447 0.016 0.0043 0.022 0.011 . rs61745748 . . . . . . . . . . . . . 0.009 0.682 D 0.988 0.899 D 0.819 0.916 P 0.000 0.629 D 1.000 0.548 D 1.55 0.394 L -5.03 0.986 D -4.06 0.797 D 0.068 0.251 0.589 0.918 D 0.881 0.961 D . . . 5.478 0.744 26.2 0.991 0.524 0.986 0.847 D c 0.473 0.504 1.000 0.747 0.615 0.372 0 5.09 0.685 6.279 0.725 1.061 0.807 1.000 0.715 0.994 0.587 14.694 0.686 Protein-tyrosine phosphatase-like|Tensin phosphatase\x2c lipid phosphatase domain . . 0.0226 0.0037 0.0074 0.0068 0.0002 0.0543 0.0230 0.0187 0.0425 0.0196 0.0031 0.0060 0.0033 0 0.0570 0.0225 0.0367 het 1460.75 111 2 218758200 . T G 1460.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.969;DP=111;Dels=0.00;FS=2.802;HRun=1;HaplotypeScore=3.8151;MQ=58.55;MQ0=0;MQRankSum=-0.766;QD=13.16;ReadPosRankSum=-0.938;VQSLOD=4.9404;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,57:111:99:1491,0,1466 2 218940259 218940259 C T exonic RUFY4 synonymous SNV RUFY4:NM_198483:exon9:c.C1044T:p.P348P 0.23 0.034 0.34 0.23 0.31 0.34 0.3124 0.0689 0.4856 0.2594 0.3998 0.3081 0.3057 0.3614 0.22 0.073 0.29 0.18 . rs7423696 COSM4133442;COSM4133441 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3118 0.0656 0.4570 0.2323 0.2439 0.3970 0.3025 0.3003 0.3496 0.2560 0.0701 0.4189 0.2517 0.2301 0.3932 0.3212 0.3323 hom 688.46 23 2 218940259 . C T 688.46 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.93;VQSLOD=13.5798;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.17:721,57,0 2 218940418 218940418 C T exonic RUFY4 synonymous SNV RUFY4:NM_198483:exon9:c.C1203T:p.A401A 0.17 0.15 0.11 0.15 0.14 0.29 0.1420 0.1407 0.1002 0.1544 0.1867 0.1287 0.1684 0.2434 0.12 0.13 0.12 0.16 . rs4674246 COSM3757950;COSM3757951 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1436 0.1369 0.1033 0.1411 0.1523 0.1872 0.1274 0.1357 0.2388 0.1384 0.1223 0.1265 0.1457 0.1650 0.1950 0.1313 0.1541 het 1351.50 119 2 218940418 . C T 1351.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.596;DP=119;Dels=0.01;FS=0.709;HRun=0;HaplotypeScore=6.3762;MQ=59.27;MQ0=0;MQRankSum=0.466;QD=11.26;ReadPosRankSum=-1.015;VQSLOD=4.9071;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:64,55:119:99:1381,0,1683 2 219140288 219140288 G C exonic TMBIM1 synonymous SNV TMBIM1:NM_001321438:exon11:c.C513G:p.P171P,TMBIM1:NM_001321428:exon12:c.C846G:p.P282P,TMBIM1:NM_001321432:exon12:c.C846G:p.P282P,TMBIM1:NM_022152:exon12:c.C846G:p.P282P,TMBIM1:NM_001321427:exon13:c.C846G:p.P282P,TMBIM1:NM_001321429:exon13:c.C846G:p.P282P,TMBIM1:NM_001321430:exon13:c.C846G:p.P282P,TMBIM1:NM_001321433:exon13:c.C846G:p.P282P,TMBIM1:NM_001321435:exon13:c.C846G:p.P282P,TMBIM1:NM_001321436:exon13:c.C846G:p.P282P 0.33 0.2 0.4 0.38 0.37 0.37 0.3809 0.2524 0.4569 0.3879 0.3114 0.4013 0.3581 0.3514 0.36 0.27 0.41 0.32 0.3 rs2292550 COSM3757952 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3837 0.2445 0.4540 0.3928 0.3858 0.2992 0.4053 0.4075 0.3515 0.3456 0.2553 0.4021 0.3377 0.4079 0.2900 0.3985 0.3885 het 843.68 75 2 219140288 . G C 843.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.925;DP=75;Dels=0.00;FS=3.169;HRun=1;HaplotypeScore=2.9581;MQ=59.17;MQ0=0;MQRankSum=1.498;QD=11.25;ReadPosRankSum=0.449;VQSLOD=5.3867;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,36:75:99:874,0,1045 2 219144815 219144815 T C exonic TMBIM1 synonymous SNV TMBIM1:NM_001321428:exon3:c.A237G:p.A79A,TMBIM1:NM_001321432:exon3:c.A237G:p.A79A,TMBIM1:NM_022152:exon3:c.A237G:p.A79A,TMBIM1:NM_001321427:exon4:c.A237G:p.A79A,TMBIM1:NM_001321429:exon4:c.A237G:p.A79A,TMBIM1:NM_001321430:exon4:c.A237G:p.A79A,TMBIM1:NM_001321433:exon4:c.A237G:p.A79A,TMBIM1:NM_001321435:exon4:c.A237G:p.A79A,TMBIM1:NM_001321436:exon4:c.A237G:p.A79A 0.99 0.97 1. 1. 1. 1. 0.9987 0.9863 0.9991 1 1 0.9999 1 1 1. 0.99 1. 1. 0.99 rs2045435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9867 0.9994 1 1 1 0.9998 0.9996 1.0000 0.9961 0.9866 0.9976 1 1 1 0.9998 1 hom 4719.62 167 2 219144815 . T C 4719.62 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2437;MQ=59.59;MQ0=0;QD=28.26;VQSLOD=7.3012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:167:99:4718,385,0 2 219146803 219146803 G A exonic TMBIM1 nonsynonymous SNV TMBIM1:NM_001321428:exon2:c.C62T:p.P21L,TMBIM1:NM_001321432:exon2:c.C62T:p.P21L,TMBIM1:NM_022152:exon2:c.C62T:p.P21L,TMBIM1:NM_001321427:exon3:c.C62T:p.P21L,TMBIM1:NM_001321429:exon3:c.C62T:p.P21L,TMBIM1:NM_001321430:exon3:c.C62T:p.P21L,TMBIM1:NM_001321433:exon3:c.C62T:p.P21L,TMBIM1:NM_001321435:exon3:c.C62T:p.P21L,TMBIM1:NM_001321436:exon3:c.C62T:p.P21L 0.45 0.059 0.51 0.62 0.58 0.63 0.5587 0.1382 0.5149 0.6211 0.6947 0.5786 0.6018 0.6678 0.41 0.14 0.55 0.42 0.46 rs2292553 COSM4133447 1(breast);1(thyroid) . . . . . . . . . . . 0.611 0.284 T 0.001 0.067 B 0.0 0.013 B 0.580 0.111 N 1.000 0.258 P 2.885 0.838 M 0.85 0.471 T -0.96 0.982 N 0.138 0.594 -0.929 0.443 T 0.000 0.000 T . . . 0.735 0.164 9.057 0.908 0.195 0.653 0.324 D c -0.697 -0.683 1.000 0.434 0.722 0.854 0 2.94 0.330 1.806 0.383 0.844 0.344 0.967 0.338 0.589 0.286 6.885 0.232 . ENSG00000261338.1|ENSG00000135926.8|ENSG00000127838.9|ENSG00000163466.11|ENSG00000261338.1|ENSG00000261338.1|ENSG00000127838.9|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000135926.8|ENSG00000127838.9|ENSG00000163466.11|ENSG00000261338.1|ENSG00000135926.8|ENSG00000261338.1|ENSG00000127838.9|ENSG00000163466.11|ENSG00000261338.1|ENSG00000135926.8|ENSG00000163466.11|ENSG00000261338.1|ENSG00000135926.8|ENSG00000179921.10|ENSG00000163466.11|ENSG00000261338.1|ENSG00000179921.10|ENSG00000261338.1|ENSG00000127838.9|ENSG00000135926.8|ENSG00000261338.1|ENSG00000261338.1|ENSG00000127838.9|ENSG00000261338.1|ENSG00000127838.9|ENSG00000261338.1|ENSG00000261338.1|ENSG00000261338.1|ENSG00000135926.8|ENSG00000163464.7|ENSG00000179921.10|ENSG00000127838.9|ENSG00000261338.1|ENSG00000127838.9|ENSG00000261338.1|ENSG00000261338.1|ENSG00000127838.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Pituitary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.5510 0.1188 0.4937 0.5278 0.6181 0.6841 0.5656 0.5406 0.6477 0.4585 0.1341 0.5372 0.5563 0.5902 0.6885 0.5676 0.5543 het 186.16 11 2 219146803 . G A 186.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.715;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.382;QD=16.92;ReadPosRankSum=-1.106;VQSLOD=11.8936;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,8:11:53.19:216,0,53 2 219231807 219231807 C T exonic CATIP synonymous SNV CATIP:NM_001320865:exon8:c.C849T:p.P283P,CATIP:NM_198559:exon8:c.C816T:p.P272P 0.99 0.97 1. 1. 1. 1. 0.9986 0.9862 0.9990 1 1 0.9997 0.9967 0.9999 1. 0.99 1. 1. 1. rs3845833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9865 0.9985 0.9999 1 1 0.9997 0.9989 1.0000 0.9961 0.9872 0.9976 1 1 1 0.9996 0.9990 hom 2195.85 75 2 219231807 . C T 2195.85 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.28;VQSLOD=13.8891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2229,171,0 2 219254622 219254622 A G exonic SLC11A1 synonymous SNV SLC11A1:NM_000578:exon9:c.A825G:p.A275A 0.98 0.94 1. 1. 1. 1. 0.9956 0.9550 0.9972 1 1 0.9996 0.9967 0.9999 0.99 0.96 1. 0.99 1. rs2695342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9550 0.9969 0.9999 1 1 0.9995 0.9974 0.9999 0.9879 0.9581 0.9976 1 1 1 0.9996 0.9990 hom 1773.78 61 2 219254622 . A G 1773.78 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=29.08;VQSLOD=8.5510;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1807,150,0 2 219267781 219267781 C T exonic CTDSP1 synonymous SNV CTDSP1:NM_001206878:exon5:c.C399T:p.H133H,CTDSP1:NM_021198:exon5:c.C402T:p.H134H,CTDSP1:NM_182642:exon5:c.C399T:p.H133H 0.47 0.032 0.58 0.69 0.62 0.58 0.5651 0.1119 0.5902 0.6953 0.6030 0.6043 0.5938 0.5888 0.45 0.14 0.61 0.42 0.43 rs2227255 COSM1405459 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5750 0.1017 0.5814 0.6278 0.6966 0.6020 0.6028 0.5819 0.5972 0.4729 0.1135 0.5921 0.6159 0.7010 0.6071 0.6108 0.5735 hom 2613.38 88 2 219267781 . C T 2613.38 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2215;MQ=58.67;MQ0=0;QD=29.70;VQSLOD=8.6958;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2646,208,0 2 219319657 219319657 A G exonic USP37 nonsynonymous SNV USP37:NM_020935:exon26:c.T2936C:p.L979S 0.98 0.94 1. 1. 1. 1. 0.9967 0.9637 0.9986 1 1 0.9998 1 0.9999 0.99 0.97 1. 0.99 1. rs6436058 . . . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.001 0.040 B 0.069 0.216 N 1 0.090 P . . . 0.68 0.547 T -0.31 0.121 N 0.135 0.162 -0.982 0.345 T 0.000 0.000 T . . . 2.798 0.397 21.4 0.990 0.487 0.131 0.174 N c -1.289 -1.212 0.293 0.191 0.707 0.730 0 -0.795 0.103 0.519 0.224 -1.443 0.011 0.813 0.296 0.005 0.090 11.719 0.508 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain . . 0.9975 0.9650 0.9982 1 0.9999 1 0.9999 0.9991 0.9998 0.9903 0.9663 0.9940 1 1 1 0.9999 0.9990 hom 4918.69 174 2 219319657 . A G 4918.69 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=2.9560;MQ=59.04;MQ0=0;QD=28.11;VQSLOD=7.9012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:4918,397,0 2 219492924 219492924 T C exonic PLCD4 synonymous SNV PLCD4:NM_032726:exon7:c.T945C:p.C315C 0.51 0.071 0.59 0.78 0.59 0.68 0.5704 0.1428 0.6108 0.7696 0.5614 0.5787 0.6067 0.6602 0.44 0.16 0.57 0.45 . rs612874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5781 0.1344 0.6004 0.6080 0.7731 0.5672 0.5771 0.5790 0.6664 0.4657 0.1511 0.5656 0.5629 0.7621 0.5656 0.5797 0.5662 het 2678.79 210 2 219492924 . T C 2678.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.180;DP=210;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8182;MQ=59.06;MQ0=0;MQRankSum=2.998;QD=12.76;ReadPosRankSum=0.992;VQSLOD=4.4275;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,108:210:99:2709,0,2657 2 219508372 219508372 A T exonic ZNF142 nonsynonymous SNV ZNF142:NM_001105537:exon8:c.T2867A:p.L956H 0.19 0.028 0.33 0.056 0.38 0.27 0.3206 0.0735 0.3341 0.0641 0.4050 0.3838 0.3249 0.2985 0.29 0.079 0.38 0.15 0.32 rs3770213 COSM3757955;COSM3757954 1(large_intestine) . . . . . . . . . . . 0.142 0.254 T 0.979 0.571 D 0.533 0.468 P 0.010 0.013 N 1 0.090 P 1.04 0.263 L 2.53 0.140 T -0.74 0.208 N 0.077 0.068 -0.962 0.389 T 0.000 0.000 T . . . 2.401 0.350 18.83 0.960 0.278 0.245 0.222 N c -0.648 -0.814 0.707 0.228 0.707 0.730 0 -1.58 0.080 -0.072 0.114 0.230 0.258 0.000 0.063 0.143 0.203 5.506 0.160 . ENSG00000135913.6|ENSG00000115556.9|ENSG00000115556.9|ENSG00000115556.9|ENSG00000135913.6|ENSG00000135912.6|ENSG00000135913.6|ENSG00000115556.9|ENSG00000135913.6|ENSG00000135929.4|ENSG00000144580.9|ENSG00000135912.6|ENSG00000135913.6|ENSG00000135929.4|ENSG00000135913.6|ENSG00000115556.9|ENSG00000144580.9|ENSG00000135929.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3200 0.0697 0.3413 0.3567 0.0612 0.4026 0.3850 0.3449 0.2820 0.2793 0.0720 0.3556 0.3742 0.0592 0.4021 0.3839 0.3609 het 4076.28 250 2 219508372 . A T 4076.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.919;DP=250;DS;Dels=0.00;FS=5.462;HRun=0;HaplotypeScore=6.5799;MQ=59.20;MQ0=1;MQRankSum=0.649;QD=16.31;ReadPosRankSum=-0.569;VQSLOD=3.7733;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:119,131:250:99:3443,0,3261 2 219508988 219508988 T C exonic ZNF142 nonsynonymous SNV ZNF142:NM_001105537:exon8:c.A2251G:p.S751G 0.76 0.81 0.66 0.94 0.62 0.74 0.6711 0.7925 0.6581 0.9366 0.5951 0.6184 0.6856 0.7123 0.68 0.8 0.62 0.79 0.62 rs3770214 COSM5653946;COSM5653945 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.665 0.046 T 0.0 0.026 B 0.0 0.013 B 0.767 0.066 N 1 0.090 P -0.46 0.027 N 2.83 0.108 T 0.95 0.015 N 0.006 0.000 -1.051 0.142 T 0.000 0.000 T . . . -2.323 0.005 0.001 0.271 0.013 0.043 0.098 N c -1.356 -1.245 0.695 0.226 0.707 0.730 0 1.43 0.215 0.149 0.159 -0.328 0.075 0.004 0.165 0.788 0.332 5.841 0.178 . ENSG00000135913.6|ENSG00000115556.9|ENSG00000115556.9|ENSG00000135913.6|ENSG00000135913.6|ENSG00000115556.9|ENSG00000135913.6|ENSG00000144580.9|ENSG00000135912.6|ENSG00000135913.6|ENSG00000135929.4|ENSG00000135913.6|ENSG00000115556.9|ENSG00000144580.9|ENSG00000135929.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6680 0.7941 0.6510 0.6554 0.9385 0.5991 0.6161 0.6483 0.7181 0.6832 0.7975 0.6292 0.6258 0.9399 0.5978 0.6160 0.6350 het 2140.22 169 2 219508988 . T C 2140.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.912;DP=169;Dels=0.00;FS=4.557;HRun=1;HaplotypeScore=5.0593;MQ=59.38;MQ0=0;MQRankSum=0.207;QD=12.66;ReadPosRankSum=-2.114;VQSLOD=4.4517;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,78:169:99:2170,0,2439 2 219509618 219509618 C A exonic ZNF142 nonsynonymous SNV ZNF142:NM_001105537:exon8:c.G1621T:p.A541S 0.52 0.071 0.59 0.82 0.59 0.68 0.5741 0.1434 0.6099 0.8216 0.5625 0.5786 0.6080 0.6608 0.44 0.17 0.58 0.45 0.5 rs2230115 COSM5653947;COSM5653948 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.279 0.155 T 0.732 0.408 P 0.419 0.460 B 0.036 0.245 N 1 0.090 P 2.3 0.659 M 2.78 0.113 T -0.54 0.166 N 0.074 0.064 -1.162 0.007 T 0.000 0.000 T . . . 0.829 0.173 9.639 0.951 0.256 0.380 0.257 N c -0.294 -0.295 1.000 0.454 0.722 0.854 0 5.08 0.682 0.812 0.267 0.059 0.165 0.301 0.251 0.606 0.290 10.901 0.461 . ENSG00000135913.6|ENSG00000115556.9|ENSG00000135912.6|ENSG00000135913.6|ENSG00000135929.4|ENSG00000135912.6|ENSG00000135929.4|ENSG00000135913.6|ENSG00000074582.8|ENSG00000115556.9|ENSG00000144580.9|ENSG00000135929.4 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5817 0.1346 0.5997 0.6079 0.8234 0.5677 0.5773 0.5809 0.6671 0.4685 0.1515 0.5680 0.5629 0.8089 0.5649 0.5802 0.5653 het 1430.15 113 2 219509618 . C A 1430.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.804;DP=113;Dels=0.00;FS=0.961;HRun=0;HaplotypeScore=1.7480;MQ=59.59;MQ0=0;MQRankSum=0.044;QD=12.66;ReadPosRankSum=-1.371;VQSLOD=6.5425;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,54:113:99:1460,0,1851 2 219513782 219513782 T C exonic ZNF142 synonymous SNV ZNF142:NM_001105537:exon6:c.A849G:p.P283P 0.087 0.015 0.14 . 0.27 0.043 0.1829 0.0436 0.1165 0.0001 0.2575 0.2587 0.1888 0.0715 0.19 0.046 0.26 0.043 0.26 rs4674322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1844 0.0407 0.1268 0.2694 0.0006 0.2501 0.2587 0.2242 0.0711 0.1816 0.0448 0.1611 0.2748 0 0.2434 0.2622 0.2352 het 1272.96 80 2 219513782 . T C 1272.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.473;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5925;MQ=59.42;MQ0=0;MQRankSum=-0.538;QD=15.91;ReadPosRankSum=-0.059;VQSLOD=6.0086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,47:80:99:1303,0,870 2 219555262 219555262 G A exonic STK36 nonsynonymous SNV STK36:NM_001243313:exon14:c.G1748A:p.R583Q,STK36:NM_015690:exon14:c.G1748A:p.R583Q 0.42 0.71 0.41 0.14 0.42 0.33 0.4195 0.6489 0.3899 0.1417 0.4490 0.4412 0.3894 0.3432 0.51 0.64 0.44 0.45 0.48 rs1344642 COSM5829416;COSM3736240 1(skin);1(thyroid);1(large_intestine) Benign not_specified RCV000454828.1 MedGen CN169374 . . . . . . 0.13 0.267 T 0.145 0.261 B 0.008 0.127 B 0.120 0.190 N 1 0.090 P 0.255 0.098 N -0.77 0.735 T -0.74 0.208 N 0.111 0.120 -0.952 0.406 T 0.000 0.000 T . . . 1.878 0.286 15.45 0.976 0.340 0.202 0.207 N c -0.860 -0.789 0.178 0.178 0.706 0.609 0 2.42 0.286 1.785 0.381 0.142 0.226 0.489 0.266 0.864 0.361 8.023 0.294 Armadillo-like helical|Armadillo-type fold ENSG00000115556.9|ENSG00000135929.4|ENSG00000144580.9|ENSG00000135912.6|ENSG00000135913.6|ENSG00000135929.4|ENSG00000115556.9|ENSG00000163482.7|ENSG00000144580.9|ENSG00000135929.4|ENSG00000272555.1 Artery_Aorta|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4137 0.6542 0.4010 0.4066 0.1376 0.4448 0.4420 0.4258 0.3377 0.4773 0.6374 0.4269 0.45 0.1371 0.4441 0.4355 0.4265 het 1061.30 78 2 219555262 . G A 1061.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.764;DP=78;Dels=0.00;FS=2.240;HRun=0;HaplotypeScore=1.8273;MQ=59.20;MQ0=0;MQRankSum=0.575;QD=13.61;ReadPosRankSum=1.015;VQSLOD=6.6705;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:1091,0,993 2 219561254 219561254 G A exonic STK36 nonsynonymous SNV STK36:NM_015690:exon22:c.G2516A:p.R839Q 0.005 . 0.0058 0.001 0.013 0.0072 0.0080 0.0008 0.0020 0.0003 0.0115 0.0108 0.0055 0.0082 0.0067 0.0005 0.0099 . 0.016 rs13023540 . . . . . . . . . . . . . 0.218 0.191 T 0.964 0.539 D 0.289 0.389 B 0.001 0.415 D 1 0.810 D 2.4 0.697 M -0.46 0.700 T -0.62 0.183 N 0.277 0.343 -0.971 0.370 T 0.103 0.379 T . . . 3.226 0.447 22.8 0.999 0.974 0.829 0.418 D c 0.148 0.234 0.103 0.164 0.706 0.609 0 4.55 0.553 2.813 0.475 1.048 0.713 1.000 0.715 0.982 0.498 9.378 0.373 . . . 0.0073 0.0011 0.0025 0.0003 0 0.0134 0.0101 0.0060 0.0078 0.0080 0.0009 0 0 0 0.0152 0.0119 0.0102 het 1392.04 127 2 219561254 . G A 1392.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.097;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6643;MQ=59.60;MQ0=0;MQRankSum=-0.648;QD=10.96;ReadPosRankSum=-0.843;VQSLOD=6.4023;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,53:127:99:1422,0,1802 2 219562675 219562675 G A exonic STK36 nonsynonymous SNV STK36:NM_001243313:exon25:c.G2945A:p.G982D,STK36:NM_015690:exon25:c.G3008A:p.G1003D 0.19 0.021 0.33 0.056 0.38 0.27 0.3146 0.0658 0.3336 0.0644 0.4049 0.3806 0.3084 0.2862 0.28 0.076 0.38 0.15 0.35 rs1863704 COSM5829419;COSM1565079 8(soft_tissue);1(skin);1(large_intestine) Benign not_specified RCV000455490.1 MedGen CN169374 . . . . . . 0.517 0.073 T 0.001 0.393 B 0.001 0.363 B 0.602 0.109 N 1 0.090 P 1.955 0.530 M -0.4 0.694 T -0.45 0.148 N 0.073 0.493 -0.910 0.469 T 0.000 0.000 T . . . -1.097 0.028 0.010 0.278 0.014 0.064 0.123 N c -0.869 -0.934 0.005 0.107 0.732 0.924 0 2.01 0.254 0.900 0.279 -0.221 0.097 0.001 0.137 0.000 0.016 6.851 0.230 . ENSG00000135913.6|ENSG00000115556.9|ENSG00000115556.9|ENSG00000115556.9|ENSG00000135913.6|ENSG00000135912.6|ENSG00000135913.6|ENSG00000115556.9|ENSG00000135913.6|ENSG00000135929.4|ENSG00000144580.9|ENSG00000135912.6|ENSG00000135913.6|ENSG00000135913.6|ENSG00000135929.4|ENSG00000135913.6|ENSG00000115556.9|ENSG00000144580.9|ENSG00000135929.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3212 0.0622 0.3401 0.3446 0.0618 0.4005 0.3831 0.3443 0.2808 0.2773 0.0672 0.3568 0.3742 0.0593 0.4011 0.3827 0.3585 het 2914.23 242 2 219562675 . G A 2914.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.297;DP=242;DS;Dels=0.00;FS=4.782;HRun=0;HaplotypeScore=1.8268;MQ=59.29;MQ0=0;MQRankSum=0.878;QD=12.04;ReadPosRankSum=-0.366;VQSLOD=5.8326;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,111:242:99:2944,0,3719 2 219602499 219602499 G C exonic TTLL4 nonsynonymous SNV TTLL4:NM_014640:exon3:c.G100C:p.E34Q 0.4 0.6 0.42 0.14 0.47 0.33 0.4387 0.5813 0.4027 0.1413 0.5256 0.4732 0.4270 0.3559 0.51 0.59 0.47 0.43 0.49 rs3731877 COSM1600350 1(breast);1(liver);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . 0.075 0.632 T 0.59 0.372 P 0.159 0.330 B 0.001 0.393 N 0.966 0.588 P 1.905 0.510 L 1.75 0.262 T -2.13 0.483 N 0.136 0.238 -1.003 0.290 T 0.000 0.000 T . . . 2.157 0.320 17.22 0.997 0.789 0.939 0.594 D c 0.129 0.231 0.999 0.396 0.732 0.924 0 5.53 0.825 3.352 0.517 1.048 0.713 0.998 0.411 0.745 0.320 13.995 0.637 . ENSG00000115556.9|ENSG00000135929.4|ENSG00000135912.6|ENSG00000135929.4|ENSG00000135912.6|ENSG00000135929.4|ENSG00000144580.9|ENSG00000135929.4|ENSG00000272555.1 Artery_Aorta|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Testis|Whole_Blood|Whole_Blood|Whole_Blood 0.4362 0.5868 0.4122 0.4192 0.1376 0.5199 0.4765 0.4496 0.3513 0.4902 0.5732 0.4438 0.4603 0.1395 0.5278 0.4755 0.4714 het 1842.88 131 2 219602499 . G C 1842.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.887;DP=131;Dels=0.00;FS=1.405;HRun=0;HaplotypeScore=3.3554;MQ=59.07;MQ0=0;MQRankSum=0.739;QD=14.07;ReadPosRankSum=0.389;VQSLOD=5.6952;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,68:131:99:1873,0,1778 2 219602819 219602819 G A exonic TTLL4 synonymous SNV TTLL4:NM_014640:exon3:c.G420A:p.P140P 0.47 0.86 0.44 0.14 0.47 0.33 0.4607 0.8208 0.4147 0.1415 0.5260 0.4736 0.4368 0.3566 0.59 0.81 0.48 0.56 0.58 rs3731876 COSM3743602 1(liver);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4535 0.8308 0.4235 0.4192 0.1377 0.5201 0.4772 0.4589 0.3520 0.5610 0.8185 0.4568 0.46 0.1392 0.5270 0.4774 0.4846 het 2820.67 195 2 219602819 . G A 2820.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.209;DP=195;Dels=0.00;FS=3.231;HRun=0;HaplotypeScore=3.6615;MQ=59.06;MQ0=0;MQRankSum=1.304;QD=14.46;ReadPosRankSum=0.913;VQSLOD=5.7598;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,101:195:99:2851,0,2365 2 219610433 219610433 A G exonic TTLL4 synonymous SNV TTLL4:NM_014640:exon7:c.A1806G:p.E602E 0.49 0.92 0.44 0.14 0.47 0.33 0.4764 0.8583 0.4296 0.1473 0.5489 0.4860 0.4542 0.3754 0.6 0.85 0.48 0.56 0.57 rs586194 COSM5426940 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4538 0.8676 0.4231 0.4191 0.1373 0.5185 0.4759 0.4599 0.3510 0.5702 0.8521 0.4580 0.4633 0.1385 0.5273 0.4768 0.4825 het 377.85 57 2 219610433 . A G 377.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.292;DP=57;Dels=0.00;FS=4.703;HRun=0;HaplotypeScore=7.8707;MQ=58.52;MQ0=0;MQRankSum=0.535;QD=6.63;ReadPosRankSum=0.462;VQSLOD=3.3579;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,17:57:99:408,0,1004 2 219903258 219903258 T G exonic CFAP65 startloss CFAP65:NM_001278296:exon3:c.A1C:p.M2del,CFAP65:NM_152389:exon3:c.A1C:p.M2del,CFAP65:NM_001278295:exon4:c.A163C:p.M55L,CFAP65:NM_194302:exon4:c.A196C:p.M66L 0.59 0.55 0.62 0.43 0.76 0.62 0.6993 0.5650 0.6071 0.4350 0.8392 0.7697 0.7190 0.6442 0.7 0.56 0.77 0.56 0.71 rs6736922 COSM149069;COSM149068 1(bone);1(stomach);1(large_intestine) . . . . . . . . . . . 1.0 0.046 T 0.0 0.026 B 0.0 0.013 B 0.008 0.012 N 1 0.090 P 0 0.065 N 1.64 0.425 T -0.05 0.116 N 0.039 0.689 -0.943 0.421 T 0.000 0.000 T . . . -2.604 0.003 0.001 0.350 0.022 0.010 0.037 N c -1.854 -1.857 0.001 0.085 0.549 0.223 0 -1.96 0.071 -0.428 0.070 -2.367 0.003 0.000 0.063 0.000 0.016 1.063 0.015 . ENSG00000163501.6|ENSG00000163501.6|ENSG00000163501.6|ENSG00000181378.9 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Nerve_Tibial|Testis 0.6998 0.5673 0.6094 0.7225 0.4427 0.8388 0.7700 0.6973 0.6461 0.6976 0.5656 0.6627 0.7053 0.4478 0.8307 0.7694 0.7383 hom 2500.35 76 2 219903258 . T G 2500.35 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;QD=32.90;VQSLOD=9.9457;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2533,196,0 2 219903723 219903723 C T exonic CFAP65 synonymous SNV CFAP65:NM_194302:exon3:c.G48A:p.V16V 0.59 0.53 0.62 0.43 0.76 0.62 0.6978 0.5525 0.6058 0.4364 0.8383 0.7693 0.7196 0.6440 0.69 0.55 0.77 0.55 0.75 rs4674354 COSM149070 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6991 0.5562 0.6088 0.7221 0.4429 0.8387 0.7700 0.6966 0.6462 0.6944 0.5544 0.6635 0.7053 0.4491 0.8307 0.7690 0.7373 hom 4195.38 128 2 219903723 . C T 4195.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.001;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9452;MQ=59.53;MQ0=0;MQRankSum=0.514;QD=32.78;ReadPosRankSum=1.434;VQSLOD=9.5399;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,127:128:99:4161,310,0 2 219920037 219920037 A G exonic IHH synonymous SNV IHH:NM_002181:exon3:c.T1128C:p.T376T 0.89 0.99 0.85 0.92 0.81 0.83 0.8358 0.9624 0.8712 0.9134 0.8781 0.8012 0.8178 0.8142 0.85 0.96 0.8 0.89 0.64 rs394452 COSM442333 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8349 0.9655 0.8673 0.7484 0.9178 0.8791 0.8009 0.7975 0.8127 0.8632 0.9600 0.8699 0.7333 0.9254 0.8778 0.8019 0.8162 hom 1706.06 51 2 219920037 . A G 1706.06 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5996;MQ=59.18;MQ0=0;QD=33.45;VQSLOD=9.6250;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1739,135,0 2 219920412 219920412 A G exonic IHH synonymous SNV IHH:NM_002181:exon3:c.T753C:p.P251P 0.48 0.44 0.53 0.28 0.67 0.53 0.5990 0.4532 0.5068 0.3041 0.7416 0.6721 0.6297 0.5554 0.59 0.45 0.67 0.46 0.63 rs3731881 COSM5021361 1(bone) Benign Brachydactyly RCV000350549.1 MedGen:Orphanet:SNOMED_CT C0221357:ORPHA294937:43476002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5983 0.4541 0.5084 0.6315 0.3114 0.7419 0.6695 0.5977 0.5565 0.5944 0.4559 0.5549 0.6391 0.3220 0.7342 0.6704 0.6335 hom 2714.94 81 2 219920412 . A G 2714.94 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9443;MQ=59.54;MQ0=0;QD=33.52;VQSLOD=9.4641;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:81:99:2748,217,0 2 220037393 220037393 A G exonic CNPPD1 nonsynonymous SNV CNPPD1:NM_015680:exon8:c.T1148C:p.L383P,CNPPD1:NM_001321389:exon9:c.T1148C:p.L383P,CNPPD1:NM_001321390:exon9:c.T1148C:p.L383P,CNPPD1:NM_001321391:exon9:c.T1148C:p.L383P 1. 0.98 1. 1. 1. 1. 0.9990 0.9881 0.9999 1 1 1.0000 1 0.9999 1. 0.99 1. 0.98 0.8 rs4674361 . . . . . . . . . . . . . 0.371 0.115 T 0.0 0.026 B 0.0 0.013 B 0.031 0.252 N 1 0.090 P -0.55 0.024 N 2.48 0.147 T 0.25 0.045 N 0.022 0.117 -0.962 0.389 T 0.000 0.000 T . . . -0.037 0.090 2.242 0.419 0.030 0.001 0.006 N c -1.451 -1.371 0.892 0.258 0.732 0.924 0 2.79 0.317 0.665 0.246 -0.732 0.036 0.001 0.137 0.002 0.062 8.356 0.313 . . . 0.9993 0.9896 0.9998 1 1 1 1.0000 1 0.9999 0.9969 0.9895 1 1 1 1 0.9999 0.9980 hom 6301.73 182 2 220037393 . A G 6301.73 Mask AC=2;AF=1.00;AN=2;DP=182;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5220;MQ=59.62;MQ0=0;QD=34.62;VQSLOD=9.0939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:6301,494,0 2 220046975 220046975 C A exonic RETREG2 nonsynonymous SNV RETREG2:NM_001321110:exon8:c.C635A:p.P212Q,RETREG2:NM_001321109:exon9:c.C635A:p.P212Q,RETREG2:NM_024293:exon9:c.C1256A:p.P419Q 0.41 0.24 0.4 0.24 0.64 0.57 0.5511 0.2904 0.3865 0.2831 0.6612 0.6318 0.5826 0.5989 0.51 0.3 0.63 0.36 0.59 rs3731900 COSM4001509 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.444 0.091 T 0.0 0.067 B 0.001 0.040 B 0.563 0.054 N 1 0.090 P 0.05 0.082 N 1.57 0.293 T 0.19 0.050 N 0.206 0.253 -0.947 0.416 T 0.000 0.000 T . . . 0.222 0.115 4.907 0.814 0.132 0.065 0.123 N c -1.031 -0.991 0.953 0.280 0.707 0.730 0 -0.369 0.119 0.747 0.258 -0.035 0.126 0.000 0.063 0.376 0.250 2.388 0.041 . ENSG00000213901.6|ENSG00000213901.6|ENSG00000158552.8|ENSG00000144567.6|ENSG00000115649.11|ENSG00000163501.6|ENSG00000213901.6|ENSG00000213901.6|ENSG00000144567.6|ENSG00000213901.6 Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5472 0.2833 0.3909 0.6297 0.2837 0.6596 0.6270 0.5647 0.5963 0.5070 0.2842 0.4300 0.5960 0.2932 0.6464 0.6243 0.5883 het 4664.30 247 2 220046975 . C A 4664.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.550;DP=247;DS;Dels=0.00;FS=6.418;HRun=1;HaplotypeScore=4.7185;MQ=59.28;MQ0=0;MQRankSum=1.613;QD=18.88;ReadPosRankSum=-1.023;VQSLOD=3.5110;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,138:247:99:3995,0,3145 2 220083279 220083279 C T exonic ABCB6 synonymous SNV ABCB6:NM_001349828:exon1:c.G117A:p.L39L,ABCB6:NM_005689:exon1:c.G117A:p.L39L 0.74 0.41 0.84 0.86 0.91 0.8 0.8492 0.4862 0.8811 0.8419 0.9546 0.8991 0.8768 0.8021 0.76 0.49 0.9 0.7 0.77 rs1109866 COSM4133475 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8558 0.4661 0.8772 0.8320 0.8466 0.9517 0.9012 0.8620 0.7999 0.7820 0.4773 0.8711 0.8311 0.8389 0.9516 0.9015 0.8676 hom 929.18 26 2 220083279 . C T 929.18 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.74;VQSLOD=14.2258;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:75.24:962,75,0 2 220085845 220085845 A G exonic ATG9A synonymous SNV ATG9A:NM_024085:exon13:c.T2325C:p.T775T,ATG9A:NM_001077198:exon14:c.T2325C:p.T775T 0.87 0.62 0.96 0.91 0.98 0.99 0.9505 0.6702 0.9824 0.8858 0.9694 0.9825 0.9756 0.9877 0.89 0.69 0.99 0.85 0.75 rs2276633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9553 0.6619 0.9807 0.9628 0.8930 0.9670 0.9852 0.9698 0.9859 0.8822 0.6613 0.9821 0.9503 0.8782 0.9688 0.9790 0.9510 hom 744.07 29 2 220085845 . A G 744.07 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.248;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=1.238;QD=25.66;ReadPosRankSum=1.486;VQSLOD=7.3643;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,28:29:32.22:777,32,0 2 220101974 220101974 A G exonic GLB1L synonymous SNV GLB1L:NM_001286427:exon14:c.T1515C:p.P505P,GLB1L:NM_001286423:exon17:c.T1785C:p.P595P,GLB1L:NM_024506:exon17:c.T1785C:p.P595P 0.0044 0.0023 0.0058 . 0.014 0.001 0.0128 0.0044 0.0022 0 0.0310 0.0184 0.0188 0.0024 0.012 0.0043 0.016 0.011 . rs61733623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0124 0.0034 0.0027 0.0005 0 0.0323 0.0182 0.0124 0.0022 0.0153 0.0028 0.0036 0 0 0.0312 0.0210 0.0224 het 1499.67 123 2 220101974 . A G 1499.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.333;DP=123;Dels=0.00;FS=5.693;HRun=2;HaplotypeScore=2.8199;MQ=58.86;MQ0=0;MQRankSum=-0.140;QD=12.19;ReadPosRankSum=-0.100;VQSLOD=5.1037;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,53:123:99:1530,0,1895 2 220113242 220113242 T G exonic STK16 synonymous SNV STK16:NM_001330214:exon6:c.T783G:p.L261L,STK16:NM_001330215:exon6:c.T525G:p.L175L,STK16:NM_001008910:exon8:c.T879G:p.L293L,STK16:NM_001330213:exon8:c.T879G:p.L293L 0.97 0.89 0.99 1. 1. 1. 0.9926 0.9163 0.9958 1 1 0.9998 0.9978 0.9998 0.98 0.93 1. 0.98 1. rs7601549 COSM4133477 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9940 0.9163 0.9956 1 1 1 0.9997 0.9978 0.9997 0.9752 0.9131 0.9976 1 1 1 0.9997 0.9969 hom 7255.26 220 2 220113242 . T G 7255.26 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.66;MQ0=0;QD=32.98;VQSLOD=8.5415;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:7255,563,0 2 220161785 220161785 G C exonic PTPRN nonsynonymous SNV PTPRN:NM_001199763:exon14:c.C2071G:p.Q691E,PTPRN:NM_001199764:exon15:c.C1888G:p.Q630E,PTPRN:NM_002846:exon15:c.C2158G:p.Q720E . . . . . . 7.424e-05 0 8.657e-05 0 0 0.0001 0 0 . . . . . rs200950374 . . . . . . . . . . . . . 0.208 0.198 T 0.074 0.226 B 0.037 0.218 B 0.000 0.629 D 1.000 0.588 D 0.295 0.102 N 2.57 0.136 T -2.79 0.590 D 0.414 0.678 -1.032 0.198 T 0.024 0.104 T 0.008 0.204 T 1.845 0.283 15.25 0.981 0.376 0.988 0.874 D c -0.041 0.152 1.000 0.747 0.696 0.567 0 4.31 0.505 7.661 0.826 0.953 0.551 1.000 0.715 1.000 0.888 16.592 0.846 PTP type protein phosphatase|Protein-tyrosine phosphatase-like;Protein-tyrosine phosphatase-like . . 6.501e-05 6.539e-05 0.0001 0 0 0 9.85e-05 0 0 3.231e-05 0 0 0 0 0 6.671e-05 0 het 738.40 68 2 220161785 . G C 738.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.953;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4824;MQ=58.63;MQ0=0;MQRankSum=-0.177;QD=10.86;ReadPosRankSum=-0.781;VQSLOD=3.5054;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,35:68:99:768,0,953 2 220250147 220250147 A G exonic DNPEP nonsynonymous SNV DNPEP:NM_001319116:exon8:c.T797C:p.V266A,DNPEP:NM_001319118:exon8:c.T731C:p.V244A,DNPEP:NM_001319119:exon8:c.T731C:p.V244A,DNPEP:NM_001319122:exon8:c.T614C:p.V205A,DNPEP:NM_012100:exon8:c.T773C:p.V258A,DNPEP:NM_001319121:exon9:c.T614C:p.V205A 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1.0000 1 1 1. 1. 1. 1. 0.98 rs907679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9997 1 1 1 1 1.0000 1 1 0.9999 0.9997 1 1 1 1 1 1 hom 2166.04 73 2 220250147 . A G 2166.04 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=29.67;VQSLOD=8.6954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2199,184,0 2 220283259 220283259 A G exonic DES synonymous SNV DES:NM_001927:exon1:c.A75G:p.P25P 0.89 0.61 0.96 1. 0.99 0.98 0.9652 0.6654 0.9818 0.9996 0.9978 0.9889 0.9711 0.9748 0.9 0.72 0.99 0.49 0.6 rs1318299 COSM3757962 1(thyroid);3(large_intestine) Benign\x2cBenign|Benign|Benign|Benign|Benign|Benign|Benign not_specified\x2cCardiomyopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_myopathy_1|Scapuloperoneal_weakness|Dilated_Cardiomyopathy\x2c_Dominant|Myofibrillar_Myopathy\x2c_Dominant RCV000154433.1\x2cRCV000029660.1|RCV000037251.10|RCV000250669.1|RCV000299687.1|RCV000356753.1|RCV000395699.1|RCV000395883.1 MedGen\x2cMedGen:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen|MedGen|MedGen CN169374\x2cC0878544:ORPHA167848:85898001|CN169374|CN230736|C1832370:601419:ORPHA98909|HP:0003704:C1842161|CN239310|CN239446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9680 0.6441 0.9791 0.9883 0.9997 0.9975 0.9886 0.9778 0.9736 0.8972 0.6583 0.9844 0.9834 1 0.9977 0.9896 0.9756 hom 774.46 35 2 220283259 . A G 774.46 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.13;VQSLOD=11.8830;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:63.18:807,63,0 2 220283277 220283277 T C exonic DES synonymous SNV DES:NM_001927:exon1:c.T93C:p.S31S 0.87 0.54 0.95 1. 0.99 0.98 0.9611 0.6090 0.9793 0.9998 0.9977 0.9886 0.9706 0.9749 0.88 0.67 0.99 0.42 0.58 rs2017800 COSM3749630 1(thyroid);2(large_intestine) Benign\x2cBenign|Benign|Benign|Benign|Benign|Benign|Benign not_specified\x2cCardiomyopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy\x2c_Dominant|Dilated_Cardiomyopathy\x2c_Dominant|Myofibrillar_myopathy_1|Scapuloperoneal_weakness RCV000154434.1\x2cRCV000029661.1|RCV000037256.10|RCV000242424.1|RCV000277612.1|RCV000312502.1|RCV000325693.1|RCV000369464.1 MedGen\x2cMedGen:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen CN169374\x2cC0878544:ORPHA167848:85898001|CN169374|CN230736|CN239446|CN239310|C1832370:601419:ORPHA98909|HP:0003704:C1842161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9641 0.5932 0.9758 0.9882 0.9998 0.9975 0.9882 0.9759 0.9737 0.8806 0.6009 0.9808 0.9834 1 0.9980 0.9892 0.9705 hom 876.12 30 2 220283277 . T C 876.12 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.20;VQSLOD=14.0516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:72.22:909,72,0 2 220285309 220285309 C T exonic DES synonymous SNV DES:NM_001927:exon4:c.C828T:p.D276D 0.34 0.47 0.34 0.18 0.36 0.28 0.3363 0.4452 0.3020 0.1882 0.2695 0.3603 0.3448 0.2988 0.38 0.44 0.36 0.3 0.4 rs1058261 . . Benign|Benign|Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Myofibrillar_myopathy_1|Myofibrillar_Myopathy\x2c_Dominant|Scapuloperoneal_weakness|Dilated_Cardiomyopathy\x2c_Dominant RCV000037254.8|RCV000247557.1|RCV000311313.1|RCV000338231.1|RCV000390698.1|RCV000397462.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|CN230736|C1832370:601419:ORPHA98909|CN239446|HP:0003704:C1842161|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3314 0.4410 0.3103 0.4203 0.1903 0.2789 0.3562 0.3489 0.2968 0.3509 0.4309 0.3341 0.4172 0.1976 0.2734 0.3400 0.3313 het 1306.45 121 2 220285309 . C T 1306.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.317;DP=121;Dels=0.00;FS=1.556;HRun=0;HaplotypeScore=4.8557;MQ=58.87;MQ0=0;MQRankSum=0.809;QD=10.80;ReadPosRankSum=1.694;VQSLOD=5.3178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,55:121:99:1336,0,1787 2 220285666 220285666 G C exonic DES synonymous SNV DES:NM_001927:exon5:c.G1014C:p.L338L 0.34 0.47 0.34 0.18 0.36 0.28 0.3414 0.4560 0.3077 0.1923 0.2791 0.3631 0.3506 0.3053 0.39 0.45 0.36 0.3 0.38 rs12920 COSM4133480 1(thyroid) Benign|Benign|Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Myofibrillar_Myopathy\x2c_Dominant RCV000037222.8|RCV000250707.1|RCV000270208.1|RCV000293964.1|RCV000325316.1|RCV000388336.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet|MedGen CN169374|CN230736|CN239310|HP:0003704:C1842161|C1832370:601419:ORPHA98909|CN239446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3312 0.4475 0.3100 0.4201 0.1893 0.2777 0.3551 0.3483 0.2965 0.3524 0.4369 0.3321 0.4172 0.1949 0.2731 0.3399 0.3320 het 786.90 55 2 220285666 . G C 786.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.124;DP=55;Dels=0.00;FS=14.908;HRun=0;HaplotypeScore=2.5599;MQ=59.16;MQ0=0;MQRankSum=0.025;QD=14.31;ReadPosRankSum=0.161;VQSLOD=4.1399;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,30:55:99:817,0,709 2 220286142 220286142 G A exonic DES synonymous SNV DES:NM_001927:exon6:c.G1104A:p.A368A 0.33 0.46 0.34 0.18 0.36 0.28 0.3362 0.4421 0.3024 0.1887 0.2696 0.3603 0.3436 0.2989 0.38 0.44 0.36 0.29 0.3 rs1058284 COSM4001515 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign|Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy\x2c_Dominant|Scapuloperoneal_weakness|Dilated_Cardiomyopathy\x2c_Dominant|Myofibrillar_myopathy_1 RCV000037225.9|RCV000242476.1|RCV000305879.1|RCV000342152.1|RCV000403379.1|RCV000405738.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen:OMIM:Orphanet CN169374|CN230736|CN239446|HP:0003704:C1842161|CN239310|C1832370:601419:ORPHA98909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3317 0.4397 0.3102 0.4201 0.1902 0.2788 0.3567 0.3494 0.2971 0.3510 0.4292 0.3357 0.4133 0.1973 0.2735 0.3410 0.3327 het 1712.05 145 2 220286142 . G A 1712.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.969;DP=145;Dels=0.00;FS=0.621;HRun=0;HaplotypeScore=2.9593;MQ=59.84;MQ0=0;MQRankSum=-0.484;QD=11.81;ReadPosRankSum=-0.332;VQSLOD=6.2965;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,64:145:99:1742,0,2145 2 220315970 220315970 G A exonic SPEG synonymous SNV SPEG:NM_005876:exon5:c.G2226A:p.K742K 0.43 0.14 0.49 0.67 0.51 0.46 0.4904 0.1849 0.4769 0.6746 0.5702 0.5086 0.4989 0.4788 0.41 0.19 0.52 0.34 0.5 rs10932806 COSM4133481 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4990 0.1834 0.4839 0.4914 0.6761 0.5627 0.5138 0.4947 0.4765 0.4305 0.1949 0.5191 0.5397 0.6938 0.5662 0.4966 0.4959 het 1596.08 131 2 220315970 . G A 1596.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.506;DP=131;Dels=0.00;FS=1.457;HRun=2;HaplotypeScore=4.7304;MQ=59.28;MQ0=0;MQRankSum=1.533;QD=12.18;ReadPosRankSum=0.284;VQSLOD=5.6795;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,62:131:99:1626,0,1924 2 220333950 220333950 T C exonic SPEG synonymous SNV SPEG:NM_005876:exon13:c.T3564C:p.P1188P 0.98 0.94 0.99 1. 1. 1. 0.9953 0.9470 0.9976 1 1 0.9998 0.9977 0.9998 0.98 0.95 1. 0.97 0.89 rs10167209 COSN8992809 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9962 0.9481 0.9977 0.9999 1 1 0.9997 0.9971 0.9998 0.9851 0.9490 0.9964 1 1 1 0.9995 0.9949 hom 1578.36 52 2 220333950 . T C 1578.36 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=30.35;VQSLOD=7.8264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1611,129,0 2 220366272 220366272 C T exonic GMPPA synonymous SNV GMPPA:NM_013335:exon4:c.C213T:p.A71A,GMPPA:NM_205847:exon4:c.C213T:p.A71A 0.004 0.0015 . . 0.018 . 0.0127 0.0017 0.0028 0 0.0325 0.0178 0.0209 0.0044 0.011 0.0016 0.016 0.011 0.016 rs41272703 . . Benign not_specified RCV000444771.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0125 0.0016 0.0030 0.0118 0 0.0337 0.0168 0.0097 0.0048 0.0183 0.0017 0.0084 0.0132 0 0.0409 0.0254 0.0163 het 2601.85 176 2 220366272 . C T 2601.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.147;DP=176;DS;Dels=0.00;FS=7.191;HRun=0;HaplotypeScore=7.3758;MQ=59.55;MQ0=0;MQRankSum=-0.110;QD=14.78;ReadPosRankSum=-0.516;VQSLOD=4.1640;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,97:176:99:2632,0,1908 2 220371035 220371035 C G exonic GMPPA synonymous SNV GMPPA:NM_013335:exon12:c.C1053G:p.A351A,GMPPA:NM_205847:exon12:c.C1053G:p.A351A 0.052 0.013 0.091 0.001 0.16 0.02 0.1081 0.0351 0.0688 0.0003 0.1401 0.1563 0.1144 0.0302 0.12 0.039 0.17 0.033 0.19 rs1046474 COSM3757967 1(large_intestine) Benign not_specified RCV000424882.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1115 0.0349 0.0827 0.1980 0.0002 0.1384 0.1567 0.1358 0.0312 0.1111 0.0392 0.0967 0.18 0.0006 0.1379 0.1562 0.1408 het 1828.58 145 2 220371035 . C G 1828.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.539;DP=145;Dels=0.00;FS=0.659;HRun=0;HaplotypeScore=1.9981;MQ=59.58;MQ0=0;MQRankSum=0.556;QD=12.61;ReadPosRankSum=-1.364;VQSLOD=5.7442;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,69:145:99:1859,0,2106 2 220379560 220379560 C G exonic ASIC4 synonymous SNV ASIC4:NM_018674:exon1:c.C495G:p.A165A,ASIC4:NM_182847:exon1:c.C495G:p.A165A 0.51 0.19 0.56 0.76 0.64 0.49 0.5954 0.2594 0.6289 0.7679 0.6664 0.6333 0.5896 0.4983 0.5 0.26 0.63 0.5 0.45 rs3731909 COSM4133487 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6025 0.2479 0.6347 0.6063 0.7713 0.6613 0.6325 0.6015 0.4972 0.5417 0.2680 0.6432 0.6167 0.7704 0.6529 0.6385 0.6076 hom 2477.75 80 2 220379560 . C G 2477.75 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.97;VQSLOD=13.6056;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2511,211,0 2 220402671 220402671 G T exonic ASIC4 nonsynonymous SNV ASIC4:NM_182847:exon9:c.G1847T:p.R616L,ASIC4:NM_018674:exon10:c.G1904T:p.R635L 0.54 0.32 0.45 0.67 0.54 0.78 0.5599 0.3506 0.4606 0.6574 0.5454 0.5483 0.5965 0.7489 0.46 0.33 0.53 0.56 0.42 rs11689281 COSM3933544 1(urinary_tract) . . . . . . . . . . . 0.2 0.203 T 0.001 0.090 B 0.002 0.104 B 0.030 0.253 N 0.010 0.411 P 0.95 0.239 L 0.03 0.622 T 0.9 0.016 N 0.045 0.069 -0.948 0.413 T 0.000 0.000 T . . . 2.152 0.320 17.19 0.983 0.394 0.666 0.329 D c -0.455 -0.396 1.000 0.747 0.447 0.083 0 2.96 0.332 1.010 0.293 1.048 0.713 0.270 0.248 0.631 0.295 6.601 0.218 . . . 0.5488 0.3321 0.4379 0.6717 0.6469 0.5284 0.5331 0.5686 0.7479 0.4781 0.3364 0.4091 0.6556 0.6178 0.5218 0.5313 0.5481 het 98.14 13 2 220402671 . G T 98.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.524;DP=13;Dels=0.00;FS=2.480;HRun=0;HaplotypeScore=0.9578;MQ=58.20;MQ0=0;MQRankSum=-0.271;QD=7.55;ReadPosRankSum=0.978;VQSLOD=4.3627;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,5:13:99:128,0,221 2 220402680 220402680 T C exonic ASIC4 nonsynonymous SNV ASIC4:NM_182847:exon9:c.T1856C:p.V619A,ASIC4:NM_018674:exon10:c.T1913C:p.V638A 0.61 0.57 0.47 0.67 0.54 0.78 0.5797 0.5781 0.4698 0.6587 0.5429 0.5483 0.6084 0.7496 0.54 0.56 0.53 0.7 0.48 rs11695248 COSM3933545 1(urinary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.260 0.037 N 1 0.090 P -0.69 0.019 N 0.16 0.610 T 0.86 0.017 N 0.01 0.022 -0.955 0.401 T 0.000 0.000 T . . . -0.788 0.041 0.045 0.589 0.059 0.031 0.079 N c -1.285 -1.224 1.000 0.747 0.447 0.083 0 2.91 0.328 -0.004 0.127 -0.328 0.075 0.000 0.063 0.013 0.120 6.656 0.220 . . . 0.5654 0.5648 0.4505 0.6751 0.6481 0.5274 0.5337 0.5741 0.7480 0.5431 0.5600 0.4246 0.6567 0.6191 0.5221 0.5330 0.5644 het 114.95 14 2 220402680 . T C 114.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.933;DP=14;Dels=0.00;FS=5.219;HRun=0;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;MQRankSum=0.533;QD=8.21;ReadPosRankSum=1.200;VQSLOD=4.3796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,5:14:99:145,0,227 2 220404381 220404381 A G exonic CHPF synonymous SNV CHPF:NM_001195731:exon4:c.T1566C:p.Y522Y,CHPF:NM_024536:exon4:c.T2052C:p.Y684Y 0.98 0.92 0.99 1. 1. 1. 0.9934 0.9291 0.9954 1 1 0.9996 0.9967 0.9998 0.98 0.94 1. 0.86 0.93 rs1976616 COSM4133489 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9302 0.9954 0.9984 0.9999 1 0.9997 0.9950 0.9998 0.9813 0.9354 0.9952 0.9967 1 1 0.9995 0.9949 hom 3744.27 109 2 220404381 . A G 3744.27 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=58.80;MQ0=0;QD=34.35;VQSLOD=9.5479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3744,310,0 2 220404648 220404648 C T exonic CHPF synonymous SNV CHPF:NM_001195731:exon4:c.G1299A:p.L433L,CHPF:NM_024536:exon4:c.G1785A:p.L595L 0.31 0.19 0.48 0.27 0.45 0.22 0.4088 0.2444 0.5009 0.3019 0.5082 0.4600 0.4002 0.2565 0.39 0.25 0.46 0.16 0.3 rs1043833 COSM3757968 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4139 0.2345 0.5062 0.3202 0.3081 0.4999 0.4634 0.4123 0.2503 0.3958 0.2380 0.5312 0.3377 0.3329 0.5046 0.4613 0.4162 het 2480.27 148 2 220404648 . C T 2480.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.080;DP=148;Dels=0.00;FS=2.700;HRun=0;HaplotypeScore=3.5651;MQ=59.47;MQ0=0;MQRankSum=0.278;QD=16.76;ReadPosRankSum=0.642;VQSLOD=5.9054;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,92:148:99:2510,0,1659 2 220404726 220404726 G A exonic CHPF synonymous SNV CHPF:NM_001195731:exon4:c.C1221T:p.H407H,CHPF:NM_024536:exon4:c.C1707T:p.H569H 0.31 0.19 0.48 0.27 0.45 0.22 0.4095 0.2431 0.5036 0.3023 0.5103 0.4610 0.4039 0.2563 0.39 0.25 0.46 0.2 0.29 rs1043832 COSM3757969 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4141 0.2342 0.5067 0.3203 0.3083 0.4997 0.4637 0.4128 0.2502 0.3960 0.2379 0.5323 0.3377 0.3362 0.5043 0.4613 0.4172 het 860.95 58 2 220404726 . G A 860.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.828;DP=58;Dels=0.00;FS=1.297;HRun=0;HaplotypeScore=4.2124;MQ=59.03;MQ0=0;MQRankSum=0.362;QD=14.84;ReadPosRankSum=-0.973;VQSLOD=5.1070;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,32:58:99:891,0,710 2 220405230 220405230 G A exonic CHPF synonymous SNV CHPF:NM_001195731:exon4:c.C717T:p.H239H,CHPF:NM_024536:exon4:c.C1203T:p.H401H 0.31 0.21 0.48 0.27 0.45 0.22 0.4101 0.2555 0.5035 0.3038 0.5103 0.4598 0.4018 0.2564 0.39 0.26 0.46 0.21 0.34 rs6436154 COSM3757970 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4150 0.2468 0.5076 0.3206 0.3095 0.5001 0.4635 0.4128 0.2503 0.4004 0.2522 0.5347 0.34 0.3362 0.5049 0.4618 0.4182 het 546.75 51 2 220405230 . G A 546.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.745;DP=51;Dels=0.00;FS=1.092;HRun=0;HaplotypeScore=0.9979;MQ=57.41;MQ0=0;MQRankSum=0.934;QD=10.72;ReadPosRankSum=-0.009;VQSLOD=4.2071;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,24:51:99:577,0,718 2 220405321 220405321 T C exonic CHPF nonsynonymous SNV CHPF:NM_001195731:exon4:c.A626G:p.Q209R,CHPF:NM_024536:exon4:c.A1112G:p.Q371R 0.96 0.92 0.97 0.94 1. 1. 0.9857 0.9283 0.9666 0.9409 0.9998 0.9993 0.9952 0.9964 0.98 0.93 1. 0.97 0.9 rs6436155 COSM4133491 1(thyroid) . . . . . . . . . . . 0.844 0.028 T 0.0 0.026 B 0.001 0.040 B 0.027 0.258 N 1 0.090 P -1.095 0.010 N 2.47 0.148 T 0.58 0.026 N 0.008 0.011 -0.999 0.302 T 0.000 0.000 T . . . -1.216 0.025 0.006 0.730 0.098 0.141 0.180 N c -1.281 -1.152 1.000 0.747 0.732 0.924 0 2.6 0.300 0.476 0.217 0.016 0.142 0.013 0.187 0.200 0.217 2.888 0.053 . . . 0.9860 0.9287 0.9689 0.9978 0.9380 0.9998 0.9995 0.9912 0.9968 0.9766 0.9343 0.9714 0.9967 0.9340 1 0.9993 0.9908 hom 622.38 20 2 220405321 . T C 622.38 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.12;VQSLOD=13.3649;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:57.15:655,57,0 2 220406722 220406722 T C exonic CHPF synonymous SNV CHPF:NM_001195731:exon2:c.A18G:p.L6L,CHPF:NM_024536:exon2:c.A504G:p.L168L 0.75 0.68 0.69 0.76 0.74 0.92 0.7673 0.6991 0.7096 0.7839 0.7388 0.7507 0.7825 0.8978 0.71 0.68 0.72 0.51 0.56 rs3731912 COSM442363 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7473 0.6727 0.6831 0.7814 0.7625 0.7208 0.7321 0.7498 0.8971 0.7181 0.6769 0.6495 0.7633 0.7423 0.7259 0.7372 0.7675 het 298.30 20 2 220406722 . T C 298.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.154;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;MQRankSum=-0.189;QD=14.92;ReadPosRankSum=-1.550;VQSLOD=5.9898;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:328,0,280 2 220412256 220412256 T C exonic TMEM198 synonymous SNV TMEM198:NM_001005209:exon3:c.T195C:p.F65F,TMEM198:NM_001303098:exon4:c.T195C:p.F65F 0.97 0.89 0.99 1. 1. 1. 0.9905 0.9072 0.9938 1 1 0.9996 0.9949 0.9998 0.97 0.92 1. 0.97 0.97 rs8179770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9918 0.9066 0.9930 0.9980 1 1 0.9997 0.9932 0.9997 0.9758 0.9166 0.9928 0.9967 1 0.9997 0.9993 0.9949 hom 8656.20 249 2 220412256 . T C 8656.20 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5185;MQ=59.12;MQ0=0;QD=34.76;VQSLOD=6.4326;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8655,701,0 2 220414016 220414016 C T exonic TMEM198 synonymous SNV TMEM198:NM_001005209:exon4:c.C885T:p.D295D,TMEM198:NM_001303098:exon5:c.C885T:p.D295D 0.93 0.77 0.97 1. 0.99 1. 0.9779 0.8016 0.9843 1 0.9927 0.9943 0.9867 0.9993 0.91 0.75 0.99 0.85 0.93 rs6436156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9811 0.7965 0.9833 0.9955 1 0.9934 0.9939 0.9852 0.9991 0.9390 0.8015 0.9761 0.9967 1 0.9940 0.9936 0.9786 hom 3147.01 104 2 220414016 . C T 3147.01 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8066;MQ=59.56;MQ0=0;QD=30.26;VQSLOD=7.5707;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3180,265,0 2 220414019 220414019 T C exonic TMEM198 synonymous SNV TMEM198:NM_001005209:exon4:c.T888C:p.P296P,TMEM198:NM_001303098:exon5:c.T888C:p.P296P 0.39 0.41 0.52 0.38 0.46 0.22 0.4339 0.4278 0.5452 0.4147 0.5278 0.4531 0.3976 0.2570 0.17 0.16 0.18 0.28 0.37 rs13023533 COSM442365;COSM442364 2(haematopoietic_and_lymphoid_tissue);2(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4391 0.4230 0.5492 0.3236 0.4207 0.5195 0.4574 0.4249 0.2525 0.4575 0.4176 0.5680 0.3533 0.4542 0.5255 0.4627 0.4348 het 1198.15 109 2 220414019 . T C 1198.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.700;DP=109;Dels=0.00;FS=4.893;HRun=3;HaplotypeScore=2.9134;MQ=59.02;MQ0=0;MQRankSum=-0.053;QD=10.99;ReadPosRankSum=0.740;VQSLOD=4.8579;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,51:109:99:1228,0,1632 2 220417266 220417266 C T exonic OBSL1 nonsynonymous SNV OBSL1:NM_015311:exon18:c.G5300A:p.R1767Q 0.38 0.35 0.52 0.38 0.46 0.22 0.4683 0.4328 0.5761 0.4484 0.5891 0.4920 0.4460 0.2937 0.42 0.37 0.45 0.24 . rs59332477 COSM4783718;COSM3757971 2(thyroid);3(large_intestine) Benign|Benign Three_M_syndrome|not_specified RCV000294940.1|RCV000378784.1 MedGen:Orphanet|MedGen CN073943:ORPHA2616|CN169374 . . . . . . 0.049 0.398 D 1.0 0.899 D 0.997 0.850 D . . . 0.952 0.810 P 1.27 0.322 L -0.24 0.668 T -1.16 0.305 N 0.134 0.211 -0.929 0.443 T 0.000 0.000 T . . . 8.535 0.959 35 0.999 0.958 0.401 0.261 N c 0.462 0.451 1.000 0.747 0.437 0.062 0 4.61 0.566 1.184 0.315 0.932 0.445 0.775 0.292 1.000 0.888 14.290 0.657 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.4309 0.3736 0.5472 0.3230 0.4202 0.5058 0.4570 0.4259 0.2532 0.4426 0.3671 0.5656 0.3510 0.4522 0.5249 0.4620 0.4305 het 117.28 12 2 220417266 . C T 117.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.141;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=0.831;QD=9.77;ReadPosRankSum=1.134;VQSLOD=5.6945;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,5:12:99:147,0,181 2 220419236 220419236 T C exonic OBSL1 synonymous SNV OBSL1:NM_015311:exon15:c.A4836G:p.T1612T 0.99 0.95 0.99 1. 1. 1. 0.9961 0.9595 0.9963 1 1 0.9996 0.9977 0.9998 0.99 0.96 1. 0.98 . rs10932813 . . Benign Three_M_syndrome RCV000297604.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9598 0.9965 0.9984 1 1 0.9997 0.9962 0.9998 0.9886 0.9613 0.9952 0.9967 1 0.9997 0.9995 0.9959 hom 2131.05 71 2 220419236 . T C 2131.05 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.15;MQ0=0;QD=30.01;VQSLOD=7.8620;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2164,180,0 2 220419339 220419339 T C exonic OBSL1 nonsynonymous SNV OBSL1:NM_015311:exon15:c.A4733G:p.Q1578R 0.96 0.86 0.99 1. 0.99 1. 0.9859 0.8814 0.9887 1 0.9925 0.9946 0.9908 0.9994 0.96 0.9 0.99 0.94 . rs10932814 . . Benign Three_M_syndrome RCV000303609.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . 1.0 0.134 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P -1.14 0.009 N 1.03 0.405 T 2.11 0.006 N 0.027 0.041 -0.973 0.366 T 0.000 0.000 T . . . 0.469 0.139 7.193 0.742 0.103 0.018 0.056 N c -0.937 -0.754 1.000 0.473 0.660 0.495 0 4.37 0.517 0.134 0.156 0.016 0.142 0.009 0.180 0.985 0.512 9.828 0.399 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9872 0.8799 0.9883 0.9956 1 0.9933 0.9941 0.9889 0.9994 0.9648 0.8907 0.9869 0.9967 1 0.9940 0.9940 0.9867 hom 1218.87 41 2 220419339 . T C 1218.87 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.09;MQ0=0;QD=29.73;VQSLOD=8.4974;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1252,105,0 2 220420785 220420785 G A exonic OBSL1 synonymous SNV OBSL1:NM_001173431:exon14:c.C4566T:p.C1522C,OBSL1:NM_015311:exon14:c.C4566T:p.C1522C 0.23 0.22 0.3 0.28 0.27 0.088 0.2548 0.2374 0.3152 0.2846 0.3285 0.2740 0.2386 0.1033 0.26 0.22 0.28 0.15 . rs3087971 COSM4783661;COSM5829422;COSM3757973 1(thyroid);1(large_intestine) Benign Three_M_syndrome RCV000271198.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2591 0.2292 0.3198 0.2453 0.2868 0.3190 0.2732 0.2563 0.1032 0.2669 0.2262 0.3525 0.2715 0.3109 0.3138 0.2720 0.2372 het 820.42 67 2 220420785 . G A 820.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DP=67;Dels=0.00;FS=3.385;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;MQRankSum=0.333;QD=12.25;ReadPosRankSum=0.019;VQSLOD=5.7328;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,32:67:99:850,0,887 2 220420956 220420956 A G exonic OBSL1 synonymous SNV OBSL1:NM_001173431:exon14:c.T4395C:p.D1465D,OBSL1:NM_015311:exon14:c.T4395C:p.D1465D 0.96 0.87 0.99 1. 1. 1. 0.9901 0.8883 0.9927 0.9999 1 0.9995 0.9953 0.9996 0.97 0.91 1. 0.96 . rs10932816 COSM4133493;COSM4909352 1(thyroid) Benign Three_M_syndrome RCV000388829.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9917 0.8881 0.9929 0.9983 0.9999 1 0.9995 0.9931 0.9996 0.9714 0.9014 0.9940 0.9967 1 0.9997 0.9993 0.9929 hom 657.26 23 2 220420956 . A G 657.26 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.16;MQ0=0;QD=28.58;VQSLOD=7.9961;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:63.15:690,63,0 2 220421417 220421417 C G exonic OBSL1 nonsynonymous SNV OBSL1:NM_001173431:exon13:c.G4095C:p.E1365D,OBSL1:NM_015311:exon13:c.G4095C:p.E1365D 0.72 0.6 0.69 0.72 0.74 0.91 0.7461 0.6154 0.6814 0.7179 0.7074 0.7457 0.7636 0.8970 0.7 0.64 0.73 0.76 . rs1983210 COSM442368;COSM5653953;COSM5653952 1(haematopoietic_and_lymphoid_tissue) Benign Three_M_syndrome RCV000402769.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . 0.129 0.268 T 0.592 0.448 P 0.418 0.545 B . . . 0.346 0.464 P 1.96 0.533 M -0.61 0.718 T -1.71 0.444 N 0.105 0.301 -0.967 0.377 T 0.000 0.000 T . . . 4.646 0.622 24.5 0.993 0.573 0.861 0.451 D c -0.069 -0.119 0.998 0.368 0.635 0.413 0 2.11 0.262 0.631 0.241 0.049 0.161 0.998 0.411 0.962 0.444 10.104 0.415 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000072182.8 Testis 0.7385 0.6127 0.6694 0.7696 0.7100 0.7098 0.7405 0.7424 0.8945 0.7044 0.6260 0.6352 0.7483 0.6889 0.7069 0.7503 0.7612 het 939.72 53 2 220421417 . C G 939.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.380;DP=53;Dels=0.00;FS=1.534;HRun=1;HaplotypeScore=3.2325;MQ=59.09;MQ0=0;MQRankSum=-0.317;QD=17.73;ReadPosRankSum=-1.548;VQSLOD=5.3718;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,31:53:99:970,0,606 2 220422774 220422774 A G exonic OBSL1 synonymous SNV OBSL1:NM_001173431:exon11:c.T3561C:p.P1187P,OBSL1:NM_015311:exon11:c.T3561C:p.P1187P 0.42 0.51 0.52 0.38 0.44 0.23 0.4303 0.5217 0.5442 0.4095 0.4945 0.4364 0.3998 0.2616 0.46 0.5 0.43 0.33 . rs2278201 COSM3757974;COSM4783686;COSM5829425 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) Benign Three_M_syndrome RCV000282793.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4340 0.5183 0.5506 0.3115 0.4189 0.4878 0.4399 0.4236 0.2553 0.4746 0.5246 0.5776 0.3444 0.4544 0.5040 0.4404 0.4324 het 429.71 46 2 220422774 . A G 429.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.207;DP=46;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.7102;MQ=59.19;MQ0=0;MQRankSum=0.686;QD=9.34;ReadPosRankSum=-0.461;VQSLOD=6.4965;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,18:46:99:460,0,765 2 220427347 220427347 G T exonic OBSL1 synonymous SNV OBSL1:NM_001173408:exon8:c.C2730A:p.A910A,OBSL1:NM_001173431:exon8:c.C2730A:p.A910A,OBSL1:NM_015311:exon8:c.C2730A:p.A910A 0.17 0.098 0.26 0.21 0.24 0.085 0.2684 0.1796 0.3550 0.2571 0.3544 0.3123 0.2711 0.1226 0.21 0.14 0.25 0.14 . rs10804275 COSM3757976;COSM3757975;COSM4783708 1(cervix);1(large_intestine) Benign Three_M_syndrome RCV000404526.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2239 0.1363 0.2783 0.2190 0.1998 0.2497 0.2540 0.2350 0.1018 0.2071 0.1344 0.3055 0.2351 0.2177 0.2438 0.2339 0.2031 het 258.08 21 2 220427347 . G T 258.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.458;DP=21;Dels=0.00;FS=8.280;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=-1.373;QD=12.29;ReadPosRankSum=-0.106;VQSLOD=4.0843;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,11:21:99:288,0,286 2 220427395 220427395 G A exonic OBSL1 synonymous SNV OBSL1:NM_001173408:exon8:c.C2682T:p.D894D,OBSL1:NM_001173431:exon8:c.C2682T:p.D894D,OBSL1:NM_015311:exon8:c.C2682T:p.D894D 0.16 0.077 0.26 0.21 0.24 0.087 0.2028 0.1190 0.2549 0.2329 0.3269 0.2708 0.2102 0.1283 0.19 0.11 0.23 0.13 . rs3183099 COSM4783647;COSM3757978;COSM3757977 1(thyroid);1(large_intestine) Benign Three_M_syndrome RCV000395194.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2159 0.1111 0.2712 0.1983 0.2031 0.2500 0.2500 0.2301 0.1030 0.2009 0.1156 0.2990 0.2086 0.2175 0.2436 0.2332 0.2020 het 136.68 11 2 220427395 . G A 136.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9089;MQ=58.88;MQ0=0;MQRankSum=1.749;QD=12.43;ReadPosRankSum=-0.387;VQSLOD=5.4302;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:167,0,107 2 220430203 220430203 C T exonic OBSL1 nonsynonymous SNV OBSL1:NM_001173408:exon6:c.G2168A:p.R723K,OBSL1:NM_001173431:exon6:c.G2168A:p.R723K,OBSL1:NM_015311:exon6:c.G2168A:p.R723K 0.79 0.58 0.82 0.9 0.91 0.82 0.8655 0.6345 0.8285 0.9110 0.9214 0.9012 0.8739 0.8372 0.83 0.67 0.9 0.79 . rs1039898 COSM4133495;COSM4909337;COSM4133496 1(thyroid) Benign Three_M_syndrome RCV000268251.1 MedGen:Orphanet CN073943:ORPHA2616 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -0.97 0.012 N 0.57 0.570 T 1.09 0.018 N 0.042 0.024 -0.957 0.397 T 0.000 0.000 T . . . 0.415 0.134 6.745 0.694 0.087 0.032 0.081 N c -1.292 -1.168 1.000 0.747 0.731 0.878 0 2.12 0.262 -0.308 0.081 0.150 0.237 0.000 0.063 0.923 0.397 6.579 0.216 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000124006.10|ENSG00000269068.1 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.8672 0.6286 0.8316 0.8560 0.9157 0.9198 0.9033 0.8714 0.8345 0.8282 0.6314 0.8397 0.8609 0.9238 0.9199 0.9061 0.8809 het 1547.44 102 2 220430203 . C T 1547.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.788;DP=102;Dels=0.00;FS=3.106;HRun=1;HaplotypeScore=0.8941;MQ=58.70;MQ0=0;MQRankSum=-1.664;QD=15.17;ReadPosRankSum=-1.059;VQSLOD=4.1338;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,56:102:99:1577,0,1212 2 220435034 220435034 A G exonic OBSL1 synonymous SNV OBSL1:NM_001173408:exon1:c.T921C:p.L307L,OBSL1:NM_001173431:exon1:c.T921C:p.L307L,OBSL1:NM_015311:exon1:c.T921C:p.L307L 0.78 0.55 0.82 0.9 0.91 0.82 0.8644 0.6169 0.8284 0.9105 0.9214 0.9013 0.8793 0.8356 0.82 0.65 0.9 0.79 . rs10180675 COSM4133503;COSM4909380;COSM4133504 1(thyroid) Benign|Benign not_specified|Three_M_syndrome RCV000173448.2|RCV000382515.1 MedGen|MedGen:Orphanet CN169374|CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8651 0.6045 0.8302 0.8557 0.9151 0.9200 0.9033 0.8702 0.8326 0.8209 0.6058 0.8377 0.8609 0.9232 0.9198 0.9059 0.8809 het 805.24 63 2 220435034 . A G 805.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.753;DP=63;Dels=0.00;FS=0.988;HRun=0;HaplotypeScore=1.9301;MQ=58.91;MQ0=0;MQRankSum=-0.777;QD=12.78;ReadPosRankSum=-0.694;VQSLOD=6.3067;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,32:63:99:835,0,900 2 220439678 220439678 C T exonic INHA synonymous SNV INHA:NM_002191:exon2:c.C531T:p.A177A 0.15 0.081 0.25 0.21 0.2 0.082 0.1812 0.1114 0.2476 0.1897 0.2058 0.1991 0.1821 0.0925 0.17 0.11 0.2 0.11 0.2 rs12720063 COSM4001518 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1878 0.1090 0.2543 0.1777 0.1970 0.1984 0.2021 0.1939 0.0919 0.1738 0.1116 0.2656 0.1954 0.2299 0.1981 0.1928 0.1724 het 2698.46 184 2 220439678 . C T 2698.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.722;DP=184;Dels=0.00;FS=1.839;HRun=0;HaplotypeScore=3.8249;MQ=59.87;MQ0=0;MQRankSum=-0.562;QD=14.67;ReadPosRankSum=1.364;VQSLOD=5.5603;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,100:184:99:2728,0,2240 2 220473355 220473355 G A exonic STK11IP nonsynonymous SNV STK11IP:NM_052902:exon15:c.G1654A:p.V552I 0.35 0.027 0.39 0.68 0.36 0.41 0.3671 0.0698 0.4299 0.6957 0.4278 0.3457 0.3509 0.3893 0.25 0.073 0.34 0.26 . rs673951 COSM4133510;COSM4133509;COSM4133508 1(thyroid) . . . . . . . . . . . 0.253 0.169 T 0.035 0.329 B 0.009 0.283 B 0.893 0.087 N 1 0.090 P 1.32 0.331 L 3.5 0.050 T -0.32 0.123 N 0.01 0.001 -1.030 0.204 T 0.000 0.000 T . . . 0.176 0.111 4.425 0.882 0.172 0.051 0.107 N c -1.023 -1.109 0.996 0.347 0.758 0.990 0 0.456 0.158 -0.072 0.114 -0.716 0.037 0.000 0.063 0.001 0.043 4.178 0.098 . . . 0.3721 0.0647 0.4212 0.3226 0.6948 0.4415 0.3410 0.3343 0.3753 0.3047 0.0784 0.3652 0.3344 0.6822 0.4357 0.3574 0.3640 het 610.06 45 2 220473355 . G A 610.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.656;DP=45;Dels=0.00;FS=4.300;HRun=0;HaplotypeScore=0.0000;MQ=58.22;MQ0=0;MQRankSum=0.765;QD=13.56;ReadPosRankSum=-0.377;VQSLOD=5.2679;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,25:45:99:640,0,507 2 220476443 220476443 C T exonic STK11IP nonsynonymous SNV STK11IP:NM_052902:exon18:c.C2222T:p.S741F 0.84 0.47 0.94 0.99 0.97 0.98 0.9376 0.5223 0.9684 0.9965 0.9521 0.9715 0.9515 0.9878 0.84 0.57 0.97 0.75 . rs627530 . . . . . . . . . . . . . 0.054 0.388 T 0.004 0.112 B 0.007 0.121 B 0.833 0.091 N 1 0.090 P 1.6 0.409 L 3.48 0.052 T -1.77 0.418 N 0.021 0.005 -1.018 0.242 T 0.000 0.000 T . . . 1.670 0.262 14.24 0.975 0.339 0.039 0.091 N c -0.989 -1.045 0.774 0.237 0.706 0.609 0 1.31 0.207 0.046 0.138 -0.536 0.048 0.000 0.063 0.000 0.016 3.445 0.070 . . . 0.9442 0.5154 0.9670 0.9611 0.9963 0.9534 0.9720 0.9564 0.9873 0.8456 0.5283 0.9642 0.9570 0.9975 0.9547 0.9720 0.9517 hom 3866.49 110 2 220476443 . C T 3866.49 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5616;MQ=59.37;MQ0=0;QD=35.15;VQSLOD=9.7989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3866,316,0 2 220494118 220494118 A C exonic SLC4A3 nonsynonymous SNV SLC4A3:NM_001326559:exon4:c.A470C:p.H157P,SLC4A3:NM_005070:exon4:c.A470C:p.H157P,SLC4A3:NM_201574:exon4:c.A470C:p.H157P 0.95 0.84 0.98 1. 1. 1. 0.9838 0.8448 0.9906 0.9980 0.9997 0.9975 0.9937 0.9980 0.95 0.85 1. 0.84 0.59 rs597306 COSM4133512 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.013 N 1 0.090 P -1.545 0.005 N 1.61 0.284 T 1.17 0.011 N 0.146 0.172 -0.917 0.459 T 0.000 0.000 T . . . -1.438 0.018 0.003 0.672 0.080 0.004 0.022 N c -1.315 -1.147 1.000 0.747 0.646 0.450 0 4.11 0.472 0.617 0.239 0.066 0.173 0.002 0.151 0.042 0.158 12.257 0.538 . . . 0.9845 0.8374 0.9886 0.9950 0.9973 0.9977 0.9959 0.9921 0.9955 0.9532 0.8384 0.9881 1 0.9994 0.9997 0.9990 0.9928 hom 783.95 22 2 220494118 . A C 783.95 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=7;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.63;VQSLOD=14.2744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:63.20:817,63,0 2 220500426 220500426 A G exonic SLC4A3 synonymous SNV SLC4A3:NM_001326559:exon14:c.A2085G:p.A695A,SLC4A3:NM_005070:exon14:c.A2004G:p.A668A,SLC4A3:NM_201574:exon14:c.A2085G:p.A695A 0.91 0.69 0.97 0.99 0.98 0.98 0.9636 0.7101 0.9817 0.9959 0.9947 0.9875 0.9748 0.9871 0.9 0.72 0.98 0.79 0.76 rs639214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9687 0.7001 0.9819 0.9950 0.9961 0.9949 0.9855 0.9806 0.9867 0.9094 0.7054 0.9761 0.9868 0.9981 0.9943 0.9882 0.9785 hom 259.15 10 2 220500426 . A G 259.15 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=25.91;VQSLOD=6.7077;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:292,24,0 2 220502367 220502367 A C exonic SLC4A3 nonsynonymous SNV SLC4A3:NM_001326559:exon17:c.A2681C:p.D894A,SLC4A3:NM_005070:exon17:c.A2600C:p.D867A,SLC4A3:NM_201574:exon17:c.A2681C:p.D894A 0.68 0.47 0.79 0.81 0.76 0.66 0.7442 0.4906 0.7907 0.8356 0.8572 0.7674 0.7461 0.6834 0.68 0.5 0.76 0.56 0.68 rs635311 COSM5021363 1(bone) . . . . . . . . . . . 0.215 0.193 T 0.0 0.026 B 0.0 0.013 B 0.000 0.003 N 1 0.090 P -0.075 0.048 N -1.12 0.776 T 0.11 0.057 N 0.091 0.092 -0.924 0.450 T 0.000 0.000 T . . . -0.286 0.069 0.715 0.856 0.155 0.081 0.139 N c -1.230 -1.235 0.979 0.299 0.646 0.450 0 -2.34 0.063 0.313 0.190 0.035 0.151 0.000 0.063 0.052 0.166 2.111 0.034 Bicarbonate transporter\x2c C-terminal ENSG00000267919.1 Heart_Atrial_Appendage 0.7528 0.4854 0.7866 0.7538 0.8371 0.8624 0.7642 0.7569 0.6800 0.7138 0.4935 0.7601 0.7351 0.8405 0.8489 0.7881 0.7951 het 741.60 43 2 220502367 . A C 741.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.086;DP=43;Dels=0.00;FS=3.179;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.484;QD=17.25;ReadPosRankSum=-0.584;VQSLOD=5.7882;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,26:43:99:772,0,420 2 220505265 220505265 T C exonic SLC4A3 synonymous SNV SLC4A3:NM_001326559:exon21:c.T3472C:p.L1158L,SLC4A3:NM_005070:exon21:c.T3391C:p.L1131L,SLC4A3:NM_201574:exon21:c.T3472C:p.L1158L 0.69 0.43 0.81 0.81 0.82 0.71 0.7946 0.4559 0.8230 0.8377 0.8923 0.8422 0.7969 0.7337 0.72 0.48 0.84 0.63 0.8 rs684428 COSM1157765 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8030 0.4490 0.8197 0.8252 0.8404 0.8971 0.8391 0.8167 0.7315 0.7451 0.4556 0.7890 0.7914 0.8445 0.8835 0.8596 0.8589 het 2466.27 219 2 220505265 . T C 2466.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.205;DP=219;Dels=0.00;FS=2.345;HRun=0;HaplotypeScore=3.8645;MQ=58.90;MQ0=0;MQRankSum=-0.296;QD=11.26;ReadPosRankSum=0.639;VQSLOD=5.9361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,94:219:99:2496,0,3440 2 223161889 223161889 A G exonic PAX3 synonymous SNV PAX3:NM_000438:exon2:c.T129C:p.G43G,PAX3:NM_001127366:exon2:c.T129C:p.G43G,PAX3:NM_013942:exon2:c.T129C:p.G43G,PAX3:NM_181457:exon2:c.T129C:p.G43G,PAX3:NM_181458:exon2:c.T129C:p.G43G,PAX3:NM_181459:exon2:c.T129C:p.G43G,PAX3:NM_181460:exon2:c.T129C:p.G43G,PAX3:NM_181461:exon2:c.T129C:p.G43G 0.9 0.84 0.91 1. 0.85 0.96 0.8872 0.8461 0.9401 1 0.8455 0.8536 0.8891 0.9548 0.85 0.84 0.85 0.9 0.35 rs12623857 . . Benign|Benign|Benign not_specified|Waardenburg_syndrome|Craniofacial_deafness_hand_syndrome RCV000176002.3|RCV000326158.1|RCV000362250.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet CN169374|C3266898:ORPHA3440:47434006|C1852510:122880:ORPHA1529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8843 0.8355 0.9374 0.9262 0.9999 0.8285 0.8409 0.8925 0.9545 0.8514 0.8433 0.9165 0.9305 1 0.8283 0.8402 0.8523 het 302.14 20 2 223161889 . A G 302.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.578;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.395;QD=15.11;ReadPosRankSum=0.465;VQSLOD=11.5206;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,13:20:99:332,0,168 2 223423362 223423362 A G exonic SGPP2 synonymous SNV SGPP2:NM_001320834:exon5:c.A561G:p.P187P,SGPP2:NM_152386:exon5:c.A945G:p.P315P,SGPP2:NM_001320833:exon6:c.A561G:p.P187P 0.88 0.63 0.92 1. 0.94 0.99 0.9305 0.6979 0.9539 0.9999 0.9723 0.9367 0.9393 0.9818 0.86 0.71 0.93 0.9 0.91 rs4674664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9360 0.6928 0.9488 0.9685 1 0.9737 0.9329 0.9364 0.9805 0.8776 0.6953 0.9427 0.9636 0.9994 0.9714 0.9385 0.9481 hom 2405.71 79 2 223423362 . A G 2405.71 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.178;DP=79;Dels=0.00;FS=3.507;HRun=0;HaplotypeScore=3.8545;MQ=59.23;MQ0=0;MQRankSum=-0.977;QD=30.45;ReadPosRankSum=1.110;VQSLOD=3.8929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,78:79:99:2439,174,0 2 223436607 223436607 C T exonic FARSB nonsynonymous SNV FARSB:NM_005687:exon17:c.G1753A:p.V585I 0.84 0.62 0.86 0.97 0.88 0.93 0.8819 0.6766 0.9027 0.9767 0.9245 0.8842 0.8874 0.9202 0.81 0.68 0.87 0.84 0.86 rs7185 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.537 N 1.000 0.198 P -0.655 0.021 N . . . 0.62 0.024 N 0.068 0.112 -0.961 0.389 T 0.000 0.000 T . . . 1.329 0.224 12.42 0.666 0.079 0.303 0.238 N c -0.809 -0.552 0.969 0.291 0.707 0.730 0 4.33 0.509 0.741 0.257 0.154 0.240 1.000 0.715 0.992 0.562 9.401 0.374 . ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000116120.8|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1|ENSG00000261428.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Frontal_Cortex_BA9|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid 0.8857 0.6712 0.8958 0.9472 0.9738 0.9224 0.8761 0.8878 0.9196 0.8309 0.6712 0.8974 0.9233 0.9759 0.9253 0.8766 0.8829 hom 1317.51 47 2 223436607 . C T 1317.51 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.03;VQSLOD=13.3528;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1351,105,0 2 223559089 223559089 T C exonic MOGAT1 nonsynonymous SNV MOGAT1:NM_058165:exon4:c.T487C:p.S163P 0.23 0.37 0.23 0.12 0.23 0.16 0.2135 0.3467 0.1989 0.1197 0.2076 0.2191 0.2310 0.1708 0.26 0.34 0.22 0.21 . rs1868024 . . . . . . . . . . . . . 0.531 0.070 T 0.022 0.174 B 0.104 0.295 B 0.000 0.497 D 0.000 0.497 P 1.46 0.370 L -2.93 0.918 D -1.65 0.395 N 0.085 0.080 -1.104 0.037 T 0.000 0.000 T . . . 0.914 0.181 10.16 0.742 0.103 0.803 0.397 D c -0.352 -0.230 0.025 0.137 0.554 0.246 0 2.96 0.332 2.804 0.474 1.051 0.754 1.000 0.715 0.803 0.337 7.694 0.276 . . . 0.2077 0.3406 0.1986 0.2580 0.1231 0.1968 0.2143 0.2126 0.1643 0.2356 0.3263 0.1766 0.2583 0.1420 0.2013 0.2063 0.1973 hom 1691.74 57 2 223559089 . T C 1691.74 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.334;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8937;MQ=57.96;MQ0=0;MQRankSum=1.246;QD=29.68;ReadPosRankSum=0.577;VQSLOD=7.4587;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,56:57:99:1725,100,0 2 223783841 223783841 G A exonic ACSL3 synonymous SNV ACSL3:NM_203372:exon6:c.G726A:p.P242P,ACSL3:NM_004457:exon7:c.G726A:p.P242P 0.023 0.011 0.035 . 0.054 0.02 0.0406 0.0196 0.0320 0.0001 0.0233 0.0576 0.0529 0.0187 0.042 0.019 0.054 . 0.033 rs13000358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0401 0.0184 0.0305 0.0717 5.8e-05 0.0250 0.0573 0.0505 0.0201 0.0360 0.0199 0.0453 0.0728 0 0.0289 0.0498 0.0346 het 834.76 98 2 223783841 . G A 834.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.616;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.76;MQ0=0;MQRankSum=-0.638;QD=8.52;ReadPosRankSum=0.183;VQSLOD=5.6483;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,34:98:99:865,0,1658 2 223917629 223917629 C T exonic KCNE4 synonymous SNV KCNE4:NM_080671:exon2:c.C234T:p.G78G 0.72 0.72 0.74 0.65 0.7 0.82 0.7145 0.7171 0.7480 0.6428 0.7904 0.6895 0.7011 0.7977 0.7 0.71 0.7 0.55 0.47 rs3795886 COSM3933547 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7169 0.7166 0.7524 0.5616 0.6518 0.7836 0.6958 0.6853 0.7986 0.7219 0.7126 0.7350 0.5596 0.6799 0.7841 0.7170 0.7664 hom 3932.07 134 2 223917629 . C T 3932.07 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.71;MQ0=0;QD=29.34;VQSLOD=8.4681;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:134:99:3931,325,0 2 223917812 223917812 T C exonic KCNE4 synonymous SNV KCNE4:NM_080671:exon2:c.T417C:p.P139P 0.97 0.98 0.97 0.99 0.94 0.95 0.9478 0.9802 0.9589 0.9973 0.9737 0.9340 0.9226 0.9407 0.96 0.98 0.94 0.97 0.86 rs10201907 COSM4133517 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9482 0.9814 0.9595 0.8332 0.9968 0.9730 0.9416 0.9170 0.9409 0.9616 0.9785 0.9702 0.8444 0.9957 0.9690 0.9492 0.9481 hom 2395.17 75 2 223917812 . T C 2395.17 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=31.94;VQSLOD=9.1482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2428,205,0 2 223917983 223917983 T G exonic KCNE4 nonsynonymous SNV KCNE4:NM_080671:exon2:c.T588G:p.D196E 0.67 0.48 0.75 0.69 0.71 0.81 0.7033 0.5228 0.7719 0.6912 0.7928 0.6898 0.6987 0.7918 0.64 0.53 0.7 0.58 0.49 rs12621643 COSM3733650 2(pancreas) . . . . . Acute lymphoblastic leukemia (childhood) 0.68 . 19684603 rs12621643 3E-6 . . . 0.0 0.026 B 0.001 0.040 B 0.000 0.497 N 1.000 0.200 P 1.245 0.315 L . . . . . . 0.054 0.036 -0.965 0.383 T 0.000 0.000 T . . . -0.584 0.051 0.136 0.839 0.145 0.136 0.178 N c -1.705 -1.751 1.000 0.747 0.497 0.185 0 -10.7 0.002 -1.765 0.019 -1.164 0.017 0.000 0.063 0.961 0.442 14.340 0.660 . . . 0.7106 0.5204 0.7760 0.5553 0.6964 0.7836 0.6970 0.6821 0.7924 0.6710 0.5197 0.7518 0.5497 0.7195 0.7859 0.7189 0.7643 hom 2136.95 67 2 223917983 . T G 2136.95 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.03;MQ0=0;QD=31.89;VQSLOD=9.8392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2170,169,0 2 224462310 224462310 G A exonic SCG2 nonsynonymous SNV SCG2:NM_003469:exon2:c.C1691T:p.P564L 0.0062 0.0008 0.011 . 0.021 0.001 0.0152 0.0028 0.0056 0.0001 0.0256 0.0219 0.0209 0.0062 0.019 0.0032 0.026 0.022 0.0082 rs36043001 . . . . . . . . . . . . . 0.148 0.248 T 0.001 0.067 B 0.001 0.040 B 0.910 0.074 N 1 0.090 N 0.57 0.153 N 4.81 0.016 T -1.23 0.312 N 0.039 0.019 -0.911 0.468 T 0.001 0.004 T . . . 0.772 0.168 9.293 0.683 0.084 0.109 0.161 N c -0.929 -0.833 0.915 0.264 0.615 0.372 0 0.4 0.155 0.663 0.246 0.045 0.158 0.004 0.165 0.150 0.205 4.706 0.121 . . . 0.0157 0.0028 0.0062 0.0204 5.799e-05 0.0285 0.0223 0.0184 0.0058 0.0178 0.0037 0.0095 0.0265 0 0.0318 0.0249 0.0173 het 1228.52 86 2 224462310 . G A 1228.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.054;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9654;MQ=58.91;MQ0=0;MQRankSum=0.220;QD=14.29;ReadPosRankSum=-0.272;VQSLOD=5.8166;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,44:86:99:1259,0,1033 2 224463164 224463164 G A exonic SCG2 synonymous SNV SCG2:NM_003469:exon2:c.C837T:p.N279N 0.021 . 0.043 . 0.058 0.018 0.0472 0.0097 0.0307 0 0.0281 0.0677 0.0518 0.0314 0.048 0.01 0.068 0.011 0.049 rs16864975 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0482 0.0093 0.0322 0.1235 5.799e-05 0.0333 0.0660 0.0560 0.0326 0.0398 0.0116 0.0323 0.1192 0.0006 0.0329 0.0613 0.0328 het 2617.95 214 2 224463164 . G A 2617.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.977;DP=214;DS;Dels=0.00;FS=10.034;HRun=0;HaplotypeScore=0.9332;MQ=59.37;MQ0=0;MQRankSum=1.247;QD=12.23;ReadPosRankSum=1.383;VQSLOD=4.4998;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,103:214:99:2648,0,3055 2 226273689 226273689 T C exonic NYAP2 synonymous SNV NYAP2:NM_020864:exon2:c.T93C:p.Y31Y 0.76 0.95 0.78 0.59 0.82 0.58 0.7825 0.9352 0.7526 0.6188 0.8401 0.8189 0.7661 0.6285 0.86 0.93 0.82 0.89 . rs2048936 COSM3933550 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7808 0.9365 0.7632 0.7709 0.6112 0.8407 0.8209 0.7934 0.6308 0.8426 0.9385 0.7703 0.7417 0.6072 0.8461 0.8188 0.8092 hom 3543.14 121 2 226273689 . T C 3543.14 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8267;MQ=58.53;MQ0=0;QD=29.28;VQSLOD=8.5885;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3542,298,0 2 226447735 226447735 C T exonic NYAP2 synonymous SNV NYAP2:NM_020864:exon4:c.C1602T:p.S534S 0.53 0.19 0.71 0.53 0.69 0.71 0.6458 0.2648 0.7838 0.5153 0.6740 0.6676 0.6561 0.7139 0.55 0.31 0.66 0.52 . rs3828256 COSM442407 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6489 0.2498 0.7696 0.6219 0.5186 0.6756 0.6632 0.6567 0.7130 0.5474 0.2596 0.7261 0.5993 0.5279 0.6667 0.6717 0.6415 het 223.47 21 2 226447735 . C T 223.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.345;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.458;QD=10.64;ReadPosRankSum=0.035;VQSLOD=11.5582;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,11:21:99:253,0,272 2 226491770 226491770 A C exonic NYAP2 nonsynonymous SNV NYAP2:NM_020864:exon5:c.A1756C:p.T586P 0.93 0.99 0.98 0.85 0.95 0.89 0.9377 0.9884 0.9851 0.8322 0.9040 0.9481 0.9282 0.9015 0.96 0.99 0.95 0.91 . rs3748993 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.211 P -1.445 0.006 N 1.56 0.296 T 0.65 0.023 N 0.036 0.022 -0.964 0.385 T 0.000 0.000 T . . . 0.811 0.171 9.532 0.934 0.226 0.046 0.101 N c -0.979 -0.741 0.007 0.115 0.526 0.212 0 3.9 0.441 1.165 0.312 0.014 0.141 0.393 0.259 0.963 0.446 6.550 0.215 Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter\x2c C-terminal domain . . 0.9374 0.9888 0.9831 0.9774 0.8274 0.9062 0.9455 0.9511 0.9010 0.9443 0.9888 0.9773 0.9834 0.8178 0.9084 0.9388 0.9296 het 118.05 26 2 226491770 . A C 118.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.584;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-1.098;QD=4.54;ReadPosRankSum=0.578;VQSLOD=4.0698;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,7:26:99:148,0,479 2 227872182 227872182 G A exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon48:c.C4932T:p.F1644F 0.51 0.64 0.47 0.4 0.42 0.59 0.4657 0.5990 0.5413 0.4012 0.4741 0.4116 0.4688 0.5826 0.46 0.57 0.41 0.43 0.39 rs2228557 COSM3757991 3(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000247000.1|RCV000291655.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4679 0.6077 0.5311 0.4589 0.3937 0.4837 0.4100 0.4391 0.5773 0.4858 0.6004 0.5108 0.4536 0.3558 0.4811 0.4339 0.4806 het 2719.02 237 2 227872182 . G A 2719.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.018;DP=237;DS;Dels=0.00;FS=3.812;HRun=5;HaplotypeScore=9.0450;MQ=59.63;MQ0=0;MQRankSum=0.588;QD=11.47;ReadPosRankSum=-1.213;VQSLOD=4.2228;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,98:237:99:2749,0,3780 2 227872995 227872995 T C exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon47:c.A4548G:p.V1516V 0.64 0.78 0.54 0.6 0.52 0.69 0.5602 0.7258 0.5896 0.5621 0.5382 0.5027 0.5513 0.6802 0.59 0.73 0.51 0.59 0.52 rs2228555 COSM3757992 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000250409.1|RCV000284418.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5580 0.7354 0.5823 0.5466 0.5560 0.5450 0.4995 0.5280 0.6738 0.5804 0.7231 0.5730 0.5298 0.5467 0.5375 0.5137 0.5602 het 780.29 87 2 227872995 . T C 780.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.441;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6270;MQ=58.69;MQ0=0;MQRankSum=0.295;QD=8.97;ReadPosRankSum=0.031;VQSLOD=6.2301;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,32:87:99:810,0,1412 2 227886773 227886773 A G exonic COL4A4 nonsynonymous SNV COL4A4:NM_000092:exon44:c.T4207C:p.S1403P 0.53 0.69 0.48 0.41 0.43 0.56 0.4763 0.6357 0.5471 0.4040 0.4884 0.4269 0.48 0.5640 0.48 0.61 0.42 0.43 0.44 rs3752895 COSM3757993 2(haematopoietic_and_lymphoid_tissue);1(skin);2(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000249698.1|RCV000407614.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 0.776 0.033 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.196 P -1.98 0.002 N -2.62 0.900 D 3.22 0.001 N 0.087 0.117 -0.950 0.411 T 0.000 0.000 T . . . 2.673 0.382 20.6 0.334 0.020 0.009 0.036 N c -0.649 -0.389 0.045 0.146 0.554 0.246 0 5.63 0.861 3.744 0.546 0.138 0.222 0.999 0.424 0.850 0.355 11.077 0.471 . . . 0.4778 0.6432 0.5388 0.5081 0.3962 0.4958 0.4221 0.4551 0.5583 0.5001 0.6292 0.5263 0.4801 0.3596 0.4928 0.4417 0.4847 het 2879.95 208 2 227886773 . A G 2879.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.100;DP=208;Dels=0.00;FS=0.560;HRun=4;HaplotypeScore=0.9992;MQ=59.23;MQ0=0;MQRankSum=1.491;QD=13.85;ReadPosRankSum=0.709;VQSLOD=6.4120;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:106,102:208:99:2910,0,2721 2 227892619 227892619 C T exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon42:c.G4080A:p.P1360P 0.49 0.57 0.48 0.4 0.44 0.55 0.4700 0.5349 0.5431 0.4058 0.4930 0.4322 0.4754 0.5567 0.45 0.53 0.42 0.39 0.23 rs2228556 COSM1752390 1(haematopoietic_and_lymphoid_tissue);3(urinary_tract);1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000253144.1|RCV000329823.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4723 0.5411 0.5347 0.5096 0.3980 0.4991 0.4263 0.4519 0.5508 0.4760 0.5329 0.5096 0.4867 0.3622 0.5012 0.4464 0.4888 het 666.52 57 2 227892619 . C T 666.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.597;DP=57;Dels=0.00;FS=4.107;HRun=0;HaplotypeScore=0.9916;MQ=59.60;MQ0=0;MQRankSum=-0.344;QD=11.69;ReadPosRankSum=-0.857;VQSLOD=6.3278;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,26:57:99:697,0,799 2 227892720 227892720 C T exonic COL4A4 nonsynonymous SNV COL4A4:NM_000092:exon42:c.G3979A:p.V1327M 0.49 0.57 0.48 0.4 0.44 0.56 0.4879 0.5479 0.5562 0.4240 0.5097 0.4513 0.4898 0.5698 0.45 0.53 0.42 0.39 0.17 rs2229813 COSM1752392 1(urinary_tract) Likely pathogenic|Benign|Benign not_provided|not_specified|Alport_syndrome RCV000171504.1|RCV000246048.1|RCV000271269.1 MedGen|MedGen|MedGen:Orphanet CN221809|CN169374|C1567741:ORPHA63 . . . . . . 0.58 0.060 T 0.0 0.026 B 0.004 0.093 B . . . 1.000 0.090 P 0.81 0.209 L -3.25 0.935 D 2.0 0.004 N 0.07 0.100 -0.943 0.421 T 0.000 0.000 T . . . 1.690 0.264 14.35 0.577 0.057 0.010 0.037 N c -1.126 -0.963 0.000 0.054 0.554 0.283 0 1.6 0.226 -0.164 0.099 -0.211 0.100 0.131 0.231 0.947 0.422 8.033 0.295 . . . 0.4705 0.5371 0.5319 0.5093 0.3954 0.4967 0.4229 0.4500 0.5549 0.4747 0.5328 0.5072 0.4833 0.3611 0.4983 0.4449 0.4866 het 189.69 29 2 227892720 . C T 189.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.767;DP=29;Dels=0.00;FS=3.799;HRun=1;HaplotypeScore=0.0000;MQ=57.89;MQ0=0;MQRankSum=-0.619;QD=6.54;ReadPosRankSum=-1.262;VQSLOD=3.2243;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,10:29:99:220,0,521 2 227896886 227896886 C T exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon39:c.G3684A:p.K1228K 0.5 0.56 0.48 0.4 0.44 0.57 0.4716 0.5289 0.5441 0.4077 0.4930 0.4320 0.4756 0.5717 0.45 0.52 0.42 0.4 0.45 rs2229812 COSM3757994 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000244180.1|RCV000286046.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4743 0.5366 0.5348 0.5139 0.4003 0.4990 0.4262 0.4524 0.5668 0.4753 0.5306 0.5119 0.4834 0.3649 0.4989 0.4461 0.4928 het 1417.51 108 2 227896886 . C T 1417.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.280;DP=108;Dels=0.00;FS=0.778;HRun=3;HaplotypeScore=8.1126;MQ=58.42;MQ0=0;MQRankSum=-1.920;QD=13.13;ReadPosRankSum=0.998;VQSLOD=2.7113;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,54:108:99:1447,0,1495 2 227896976 227896976 C T exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon39:c.G3594A:p.G1198G 0.49 0.56 0.48 0.4 0.44 0.57 0.4746 0.5311 0.5464 0.4129 0.4955 0.4345 0.4785 0.5743 0.45 0.52 0.42 0.4 0.39 rs10203363 COSM3757995 1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000252184.1|RCV000322357.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4731 0.5357 0.5333 0.5140 0.3998 0.4982 0.4242 0.4504 0.5665 0.4741 0.5293 0.5132 0.4834 0.3661 0.4983 0.4443 0.4929 het 226.96 22 2 227896976 . C T 226.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.137;DP=22;Dels=0.00;FS=8.073;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=-0.267;QD=10.32;ReadPosRankSum=0.467;VQSLOD=4.8624;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,9:22:99:257,0,416 2 227915832 227915832 G A exonic COL4A4 nonsynonymous SNV COL4A4:NM_000092:exon33:c.C3011T:p.P1004L 0.55 0.59 0.52 0.48 0.49 0.64 0.5205 0.5643 0.5631 0.4551 0.5056 0.4862 0.5156 0.6434 0.52 0.58 0.49 0.46 0.54 rs1800517 COSM4001525 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) Benign|Benign not_specified|Alport_syndrome RCV000251893.1|RCV000389933.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 0.001 0.784 D 0.634 0.384 P 0.2 0.352 B . . . 0.000 0.588 P 2.26 0.646 M -4.09 0.966 D -7.89 0.962 D 0.125 0.333 -1.162 0.007 T 0.000 0.000 T . . . 2.709 0.387 20.9 0.983 0.396 0.963 0.682 D c 0.024 0.032 0.164 0.176 0.638 0.428 0 4.64 0.572 4.515 0.600 0.127 0.214 1.000 0.715 0.160 0.208 12.480 0.550 . . . 0.5206 0.5718 0.5531 0.5743 0.4515 0.5083 0.4801 0.5027 0.6402 0.5096 0.5640 0.5430 0.5199 0.4610 0.5034 0.4818 0.5226 het 1956.57 141 2 227915832 . G A 1956.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.534;DP=141;Dels=0.00;FS=2.184;HRun=0;HaplotypeScore=2.5975;MQ=59.44;MQ0=0;MQRankSum=1.024;QD=13.88;ReadPosRankSum=-0.559;VQSLOD=6.5641;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,74:141:99:1987,0,1558 2 227954599 227954599 G A exonic COL4A4 nonsynonymous SNV COL4A4:NM_000092:exon21:c.C1444T:p.P482S 0.55 0.51 0.61 0.52 0.5 0.64 0.5344 0.5081 0.6808 0.4908 0.5299 0.4944 0.5268 0.6342 0.51 0.53 0.5 0.47 0.5 rs2229814 COSM3757996 1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000248568.1|RCV000299491.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 0.753 0.035 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.085 0.274 L -2.62 0.900 D -0.03 0.075 N 0.024 0.017 -0.903 0.477 T 0.000 0.000 T . . . -0.178 0.078 1.217 0.343 0.021 0.011 0.041 N c -0.759 -0.714 0.000 0.029 0.554 0.246 0 0.339 0.152 0.668 0.246 -0.194 0.103 0.528 0.269 0.602 0.289 1.222 0.018 . . . 0.5405 0.5100 0.6685 0.5476 0.4868 0.5326 0.4920 0.5110 0.6307 0.5106 0.5112 0.6367 0.4834 0.4931 0.5191 0.5025 0.5298 het 610.22 58 2 227954599 . G A 610.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.570;DP=58;Dels=0.00;FS=1.065;HRun=0;HaplotypeScore=3.8891;MQ=59.29;MQ0=0;MQRankSum=0.249;QD=10.34;ReadPosRankSum=-0.889;VQSLOD=5.8076;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,27:58:99:640,0,828 2 228111435 228111435 T C exonic COL4A3 nonsynonymous SNV COL4A3:NM_000091:exon7:c.T422C:p.L141P 0.8 0.6 0.88 0.9 0.84 0.85 0.8302 0.6316 0.8951 0.9136 0.8238 0.8308 0.8296 0.8597 0.77 0.64 0.83 0.75 0.81 rs10178458 . . Benign|Benign not_specified|Alport_syndrome RCV000245465.1|RCV000399711.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 1.0 0.010 T 0.004 0.201 B 0.004 0.145 B 0.142 0.182 N 0.380 0.327 P -1.39 0.006 N -3.4 0.943 D 2.9 0.002 N 0.129 0.147 -0.919 0.457 T 0.000 0.000 T . . . -0.830 0.039 0.037 0.563 0.054 0.003 0.017 N c -1.418 -1.148 0.042 0.145 0.638 0.428 0 3.62 0.405 0.487 0.219 -3.534 0.001 0.290 0.250 0.029 0.146 13.158 0.588 . . . 0.8339 0.6275 0.8876 0.7736 0.9175 0.8236 0.8350 0.8172 0.8569 0.7805 0.6284 0.8720 0.7781 0.9280 0.8270 0.8347 0.8180 hom 1287.22 42 2 228111435 . T C 1287.22 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.65;VQSLOD=13.7220;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1320,102,0 2 228113175 228113175 A G exonic COL4A3 nonsynonymous SNV COL4A3:NM_000091:exon9:c.A485G:p.E162G 0.8 0.6 0.88 0.9 0.84 0.85 0.8304 0.6310 0.8949 0.9138 0.8248 0.8310 0.83 0.8600 0.77 0.64 0.83 0.76 0.77 rs6436669 . . Benign|Benign not_specified|Alport_syndrome RCV000242416.1|RCV000295878.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 0.828 0.029 T 0.001 0.167 B 0.002 0.145 B 0.328 0.142 N 1.000 0.182 P 1.355 0.339 L -3.17 0.931 D 1.25 0.010 N 0.05 0.031 -0.962 0.388 T 0.000 0.000 T . . . 0.832 0.173 9.659 0.541 0.050 0.018 0.055 N c -0.959 -0.824 0.003 0.097 0.638 0.428 0 1.24 0.203 0.228 0.175 -0.325 0.076 0.989 0.365 0.181 0.213 8.831 0.341 . . . 0.8341 0.6277 0.8877 0.7737 0.9177 0.8241 0.8351 0.8170 0.8571 0.7808 0.6290 0.8723 0.7781 0.9284 0.8286 0.8343 0.8184 hom 1936.81 65 2 228113175 . A G 1936.81 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.80;VQSLOD=14.0386;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1970,150,0 2 228128540 228128540 C T exonic COL4A3 synonymous SNV COL4A3:NM_000091:exon21:c.C1195T:p.L399L 0.77 0.67 0.79 0.86 0.74 0.82 0.7667 0.6715 0.8657 0.8900 0.8015 0.7335 0.7617 0.8091 0.72 0.68 0.73 0.64 0.61 rs10205042 . . Benign|Benign not_specified|Alport_syndrome RCV000245175.1|RCV000363958.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7679 0.6689 0.8469 0.6356 0.8832 0.7972 0.7361 0.7443 0.8062 0.7419 0.6775 0.8242 0.6589 0.8912 0.8013 0.7453 0.7597 hom 1253.89 39 2 228128540 . C T 1253.89 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.15;VQSLOD=13.3984;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:96.31:1287,96,0 2 228135631 228135631 C T exonic COL4A3 nonsynonymous SNV COL4A3:NM_000091:exon25:c.C1721T:p.P574L 0.4 0.15 0.44 0.48 0.47 0.55 0.4694 0.1902 0.4875 0.4665 0.4677 0.4785 0.4496 0.5890 0.39 0.21 0.47 0.39 0.42 rs28381984 COSM3758001;COSM3758002 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) Benign|Benign not_specified|Alport_syndrome RCV000247531.1|RCV000296144.1 MedGen|MedGen:Orphanet CN169374|C1567741:ORPHA63 . . . . . . 0.005 0.632 D 0.999 0.899 D 0.944 0.971 D 0.001 0.414 D 0.000 0.588 P 3.25 0.900 M -3.16 0.930 D -4.75 0.802 D 0.277 0.335 -1.332 0.000 T 0.000 0.000 T . . . 5.446 0.739 26.1 0.998 0.892 0.603 0.309 D c 0.436 0.323 1.000 0.467 0.638 0.428 0 5.8 0.921 2.569 0.454 0.935 0.490 0.189 0.240 0.226 0.223 16.968 0.861 . . . 0.4692 0.1828 0.4712 0.4330 0.4626 0.4644 0.4821 0.4465 0.5851 0.3967 0.1974 0.4474 0.4702 0.4578 0.4653 0.4817 0.4559 hom 2076.34 65 2 228135631 . C T 2076.34 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.62;MQ0=0;QD=31.94;VQSLOD=9.5574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2109,163,0 2 228194480 228194480 A T exonic MFF nonsynonymous SNV MFF:NM_001277061:exon3:c.A19T:p.S7C,MFF:NM_020194:exon3:c.A19T:p.S7C 0.27 0.096 0.24 0.24 0.37 0.45 0.3291 0.1295 0.2007 0.2330 0.2929 0.3673 0.3293 0.4558 0.27 0.12 0.35 . 0.36 rs3211097 COSM3758003 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000437096.1 MedGen CN169374 . . . . . . 0.006 0.632 D 0.0 0.026 B 0.001 0.040 B 0.013 0.291 N 0.862 0.810 P 1.355 0.339 L 1.33 0.617 T -0.33 0.805 N 0.069 0.313 -0.989 0.328 T 0.000 0.000 T . . . 2.982 0.419 22.2 0.939 0.234 0.859 0.448 D c -0.209 -0.003 1.000 0.747 0.651 0.465 0 4.8 0.610 3.478 0.527 1.199 0.960 1.000 0.715 1.000 0.888 10.393 0.432 . . . 0.3226 0.1215 0.2000 0.3772 0.2246 0.2976 0.3679 0.3250 0.4486 0.2736 0.1279 0.2218 0.4329 0.2082 0.3087 0.3557 0.3050 het 1520.37 140 2 228194480 . A T 1520.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.142;DP=140;Dels=0.00;FS=3.070;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=0.769;QD=10.86;ReadPosRankSum=-0.401;VQSLOD=5.7733;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,65:140:99:1550,0,1988 2 228194481 228194481 G T exonic MFF nonsynonymous SNV MFF:NM_001277061:exon3:c.G20T:p.S7I,MFF:NM_020194:exon3:c.G20T:p.S7I 0.27 0.096 0.25 0.24 0.37 0.45 0.3292 0.1295 0.2005 0.2331 0.2932 0.3673 0.3293 0.4560 0.27 0.12 0.35 . 0.36 rs3211098 COSM3758004 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000419895.1 MedGen CN169374 . . . . . . 0.065 0.373 T 0.079 0.230 B 0.035 0.214 B 0.013 0.291 N 0.962 0.588 P 1.355 0.339 L 1.35 0.617 T -0.43 0.868 N 0.033 0.321 -0.965 0.382 T 0.000 0.000 T . . . 3.603 0.490 23.2 0.970 0.313 0.821 0.411 D c -0.284 -0.114 1.000 0.446 0.651 0.465 0 3.1 0.346 2.147 0.416 1.048 0.713 1.000 0.715 1.000 0.888 7.081 0.243 . ENSG00000168958.15 Muscle_Skeletal 0.3225 0.1217 0.1998 0.3770 0.2246 0.2976 0.3678 0.3249 0.4484 0.2737 0.1281 0.2230 0.4329 0.2084 0.3087 0.3556 0.3050 het 1517.35 141 2 228194481 . G T 1517.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.968;DP=141;Dels=0.00;FS=2.153;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;MQRankSum=-0.056;QD=10.76;ReadPosRankSum=-0.271;VQSLOD=6.6608;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,65:141:99:1547,0,2027 2 228416712 228416712 A G exonic AGFG1 synonymous SNV AGFG1:NM_001135189:exon10:c.A1296G:p.T432T,AGFG1:NM_001135188:exon11:c.A1416G:p.T472T,AGFG1:NM_004504:exon11:c.A1416G:p.T472T,AGFG1:NM_001135187:exon12:c.A1488G:p.T496T 0.77 0.86 0.72 0.69 0.71 0.82 0.7469 0.8243 0.7705 0.7023 0.6690 0.7223 0.7753 0.8336 0.76 0.83 0.72 0.81 0.77 rs13426457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7430 0.8188 0.7542 0.7416 0.6950 0.6848 0.7233 0.7534 0.8320 0.7459 0.8214 0.7590 0.7252 0.6986 0.6883 0.7206 0.7429 hom 7360.23 239 2 228416712 . A G 7360.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.659;DP=239;DS;Dels=0.00;FS=3.029;HRun=2;HaplotypeScore=4.7185;MQ=59.73;MQ0=0;MQRankSum=-0.899;QD=30.80;ReadPosRankSum=0.256;VQSLOD=4.2063;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,238:239:99:7334,586,0 2 228476140 228476140 C T exonic C2orf83 stopgain C2orf83:NM_020161:exon3:c.G423A:p.W141X 0.31 0.23 0.34 0.41 0.28 0.36 0.3089 0.2282 0.3444 0.4049 0.2539 0.3004 0.3370 0.3391 0.28 0.23 0.31 0.33 0.34 rs2176186 . . . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.210 P . . . . . . . . . . . . . . . . . . . . 6.078 0.837 28.1 0.483 0.040 0.000 0.001 N c -0.657 -1.067 0.000 0.035 0.428 0.059 0 -1.83 0.074 0.786 0.263 -1.231 0.015 0.002 0.151 0.000 0.016 4.089 0.094 . . . 0.3098 0.2258 0.3323 0.3395 0.3932 0.2532 0.3022 0.3348 0.3345 0.2892 0.2340 0.3580 0.3233 0.3812 0.2642 0.3109 0.3180 hom 7320.77 236 2 228476140 . C T 7320.77 Mask AC=2;AF=1.00;AN=2;DP=236;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;QD=31.02;VQSLOD=9.4878;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,236:236:99:7320,575,0 2 228476253 228476253 C G exonic C2orf83 nonsynonymous SNV C2orf83:NM_020161:exon3:c.G310C:p.E104Q 0.84 0.59 0.93 1. 0.9 0.89 0.8834 0.6491 0.9336 0.9995 0.9454 0.8955 0.8756 0.8620 0.82 0.67 0.89 0.83 0.93 rs2138402 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 0.14 0.609 T -0.05 0.078 N 0.01 0.001 -0.960 0.392 T 0.000 0.000 T . . . -1.127 0.027 0.009 0.045 0.000 0.000 0.001 N c -1.561 -1.582 0.000 0.029 0.403 0.052 0 0.457 0.158 0.295 0.187 0.035 0.151 0.000 0.063 0.001 0.043 2.505 0.043 . . . 0.8882 0.6446 0.9260 0.7850 0.9995 0.9403 0.8997 0.8787 0.8609 0.8485 0.6654 0.9153 0.8113 0.9988 0.9424 0.9095 0.9073 hom 4806.22 144 2 228476253 . C G 4806.22 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4718;MQ=59.58;MQ0=0;QD=33.38;VQSLOD=8.8005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4806,379,0 2 228758554 228758554 A T exonic DAW1 nonsynonymous SNV DAW1:NM_178821:exon5:c.A361T:p.T121S,DAW1:NM_001330004:exon6:c.A316T:p.T106S 0.14 0.15 0.13 0.005 0.24 0.17 0.1833 0.1525 0.1021 0.0027 0.2953 0.2184 0.2152 0.1658 0.19 0.16 0.21 0.12 0.24 rs1715828 COSM3758006 1(breast);2(large_intestine) . . . . . . . . . . . 0.073 0.682 T 0.646 0.386 P 0.497 0.457 P 0.000 0.843 D 0.000 0.588 P 2.18 0.615 M -1.48 0.812 T -3.43 0.673 D 0.247 0.433 -1.139 0.014 T 0.000 0.000 T . . . 4.591 0.615 24.4 0.996 0.716 0.969 0.716 D c 0.349 0.447 0.999 0.379 0.638 0.428 0 5.74 0.900 8.454 0.901 1.083 0.853 1.000 0.715 0.696 0.308 14.864 0.699 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000123977.5 Testis 0.1814 0.1480 0.1067 0.2269 0.0018 0.2923 0.2147 0.1953 0.1622 0.1917 0.1543 0.1364 0.1755 0.0025 0.2966 0.2112 0.2187 het 1015.80 85 2 228758554 . A T 1015.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.541;DP=85;Dels=0.00;FS=0.888;HRun=0;HaplotypeScore=3.3626;MQ=59.56;MQ0=0;MQRankSum=0.646;QD=11.95;ReadPosRankSum=-2.079;VQSLOD=5.4073;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,43:85:99:1046,0,1043 2 228855866 228855866 G C exonic SPHKAP nonsynonymous SNV SPHKAP:NM_030623:exon10:c.C4722G:p.S1574R,SPHKAP:NM_001142644:exon11:c.C4809G:p.S1603R 0.18 0.03 0.19 0.23 0.3 0.17 0.2227 0.0604 0.1486 0.2293 0.2761 0.2663 0.2390 0.1751 0.2 0.067 0.27 0.16 0.23 rs16824283 . . . . . . . . . . . . . 0.026 0.469 D 0.966 0.542 D 0.787 0.558 P 0.001 0.437 D 1 0.090 P 1.95 0.526 M 3.28 0.065 T -1.87 0.437 N 0.07 0.058 -1.030 0.204 T 0.000 0.000 T . . . 2.489 0.360 19.39 0.990 0.504 0.325 0.244 N c -0.561 -0.756 0.000 0.012 0.487 0.133 0 -2.19 0.066 0.085 0.146 -0.752 0.034 0.449 0.263 0.001 0.043 13.899 0.631 A-kinase anchor 110kDa\x2c C-terminal . . 0.2251 0.0565 0.1580 0.2170 0.2308 0.2722 0.2714 0.2515 0.1758 0.2031 0.0611 0.1535 0.2086 0.25 0.2665 0.2665 0.2357 het 741.37 64 2 228855866 . G C 741.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.892;DP=64;Dels=0.00;FS=3.540;HRun=1;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;MQRankSum=-0.119;QD=11.58;ReadPosRankSum=0.384;VQSLOD=5.8141;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,26:64:99:771,0,1098 2 231036860 231036860 C T exonic SP110 nonsynonymous SNV SP110:NM_004509:exon16:c.G1737A:p.M579I,SP110:NM_080424:exon16:c.G1737A:p.M579I 0.04 0.0076 0.048 0.001 0.092 0.062 0.0606 0.0129 0.0312 0.0035 0.0311 0.0852 0.0551 0.0537 0.06 0.017 0.083 0.043 0.11 rs3948463 COSM4986678 1(breast);2(soft_tissue) Likely benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000390437.1|RCV000455142.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . 0.481 0.121 T 0.002 0.205 B 0.001 0.127 B . . . 0.999 0.214 N 0.84 0.212 L -2.18 0.867 D -0.96 0.320 N 0.07 0.095 -1.040 0.172 T 0.019 0.080 T . . . 0.702 0.161 8.842 0.639 0.072 0.095 0.151 N c -0.968 -0.914 0.280 0.190 0.672 0.522 0 2.68 0.307 -0.229 0.090 -0.067 0.120 0.005 0.169 0.110 0.193 7.669 0.274 Zinc finger\x2c FYVE/PHD-type|Zinc finger\x2c PHD-finger|Zinc finger\x2c RING/FYVE/PHD-type ENSG00000135899.12 Nerve_Tibial 0.0600 0.0127 0.0357 0.1467 0.0029 0.0314 0.0817 0.0698 0.0546 0.0538 0.0138 0.0394 0.1523 0.0019 0.0332 0.0852 0.0703 het 2343.70 188 2 231036860 . C T 2343.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.608;DP=188;DS;Dels=0.00;FS=2.962;HRun=2;HaplotypeScore=4.9439;MQ=58.92;MQ0=0;MQRankSum=0.913;QD=12.47;ReadPosRankSum=1.005;VQSLOD=5.4045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,89:188:99:2374,0,2843 2 231037616 231037616 A G exonic SP110 synonymous SNV SP110:NM_004509:exon15:c.T1650C:p.G550G,SP110:NM_080424:exon15:c.T1650C:p.G550G 0.04 0.0076 0.049 0.001 0.092 0.063 0.0606 0.0129 0.0312 0.0039 0.0311 0.0851 0.0554 0.0538 0.06 0.017 0.083 0.043 0.11 rs35495464 . . Likely benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000276529.1|RCV000454724.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0600 0.0124 0.0357 0.1467 0.0031 0.0316 0.0817 0.0696 0.0546 0.0535 0.0134 0.0395 0.1523 0.0019 0.0332 0.0849 0.0694 het 1574.44 121 2 231037616 . A G 1574.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.262;DP=121;Dels=0.00;FS=1.480;HRun=0;HaplotypeScore=0.7887;MQ=59.81;MQ0=0;MQRankSum=0.948;QD=13.01;ReadPosRankSum=2.864;VQSLOD=5.0103;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,57:121:99:1604,0,1568 2 231042276 231042276 A G exonic SP110 nonsynonymous SNV SP110:NM_004509:exon14:c.T1568C:p.M523T,SP110:NM_004510:exon14:c.T1568C:p.M523T,SP110:NM_080424:exon14:c.T1568C:p.M523T,SP110:NM_001185015:exon15:c.T1586C:p.M529T 0.32 0.21 0.35 0.17 0.5 0.45 0.4256 0.2385 0.2766 0.1578 0.4097 0.5177 0.4119 0.4233 0.42 0.26 0.5 0.35 0.48 rs1135791 COSM3758010;COSM3758011 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000362881.1|RCV000455391.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . 0.275 0.213 T 0.0 0.026 B 0.0 0.013 B 0.966 0.082 N 1 0.090 P -0.85 0.015 N -0.46 0.700 T -0.59 0.176 N 0.007 0.020 -0.948 0.413 T 0.000 0.000 T . . . -0.874 0.037 0.029 0.285 0.015 0.011 0.039 N c -1.770 -1.729 0.003 0.097 0.732 0.924 0 -0.782 0.104 -0.542 0.061 -0.216 0.099 0.000 0.063 0.000 0.016 0.294 0.002 SAND domain|SAND domain-like . . 0.4202 0.2360 0.2902 0.5247 0.1539 0.4098 0.5154 0.4426 0.4270 0.3925 0.2479 0.2931 0.5199 0.1608 0.4041 0.4982 0.4490 het 2634.14 238 2 231042276 . A G 2634.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.642;DP=238;DS;Dels=0.00;FS=0.481;HRun=0;HaplotypeScore=11.0684;MQ=58.85;MQ0=0;MQRankSum=-0.847;QD=11.07;ReadPosRankSum=-1.124;VQSLOD=3.4947;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,109:238:99:2664,0,3584 2 231050715 231050715 A G exonic SP110 nonsynonymous SNV SP110:NM_004509:exon11:c.T1274C:p.L425S,SP110:NM_004510:exon11:c.T1274C:p.L425S,SP110:NM_080424:exon11:c.T1274C:p.L425S,SP110:NM_001185015:exon12:c.T1292C:p.L431S 0.9 0.85 0.87 0.99 0.87 0.94 0.8869 0.8502 0.9278 0.9968 0.8592 0.8670 0.8711 0.9161 0.86 0.85 0.87 0.96 0.84 rs3948464 . . Uncertain significance|Benign Mycobacterium_tuberculosis\x2c_susceptibility_to|not_specified RCV000005877.5|RCV000455916.1 MedGen:OMIM|MedGen C1834752:607948|CN169374 . . . . . . 0.818 0.123 T 0.0 0.026 B 0.001 0.040 B 0.733 0.064 N 1 0.090 P 0.205 0.094 N 1.09 0.648 T 0.88 0.017 N 0.038 0.206 -1.008 0.274 T 0.000 0.000 T . . . -1.667 0.013 0.002 0.266 0.013 0.000 0.003 N c -1.761 -1.798 0.004 0.104 0.706 0.609 0 -1.77 0.075 -0.354 0.077 -1.586 0.009 0.000 0.063 0.000 0.016 3.598 0.075 . ENSG00000135899.12 Brain_Putamen_basal_ganglia 0.8893 0.8514 0.9234 0.8995 0.9980 0.8628 0.8646 0.8790 0.9171 0.8712 0.8462 0.9033 0.9007 0.9988 0.8578 0.8731 0.8640 hom 7295.88 250 2 231050715 . A G 7295.88 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.07;MQ0=0;QD=29.18;VQSLOD=8.9606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7294,593,0 2 231072709 231072709 C T exonic SP110 nonsynonymous SNV SP110:NM_004509:exon8:c.G895A:p.G299R,SP110:NM_004510:exon8:c.G895A:p.G299R,SP110:NM_080424:exon8:c.G895A:p.G299R,SP110:NM_001185015:exon9:c.G913A:p.G305R 0.8 0.96 0.78 0.9 0.63 0.69 0.7087 0.9176 0.8210 0.8933 0.6118 0.6282 0.7112 0.7172 0.7 0.9 0.6 0.78 0.32 rs1365776 . . Benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000335389.1|RCV000454767.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . 0.69 0.066 T 0.0 0.026 B 0.0 0.040 B 0.327 0.041 N 1 0.090 P -0.205 0.041 N 1.22 0.658 T 1.23 0.030 N 0.091 0.172 -0.995 0.312 T 0.000 0.000 T . . . 2.354 0.344 18.52 0.669 0.079 0.001 0.006 N c -1.401 -1.392 0.982 0.303 0.672 0.522 0 -0.142 0.127 -0.235 0.090 -0.283 0.084 0.001 0.137 0.003 0.074 4.017 0.091 . . . 0.6856 0.9197 0.8066 0.6550 0.8967 0.5855 0.5954 0.6773 0.7067 0.7055 0.9136 0.8189 0.6887 0.9017 0.5848 0.5887 0.6541 hom 470.26 16 2 231072709 . C T 470.26 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.94;MQ0=0;QD=29.39;VQSLOD=8.4713;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:503,39,0 2 231077110 231077110 C T exonic SP110 nonsynonymous SNV SP110:NM_004509:exon5:c.G619A:p.E207K,SP110:NM_004510:exon5:c.G619A:p.E207K,SP110:NM_080424:exon5:c.G619A:p.E207K,SP110:NM_001185015:exon6:c.G637A:p.E213K 0.13 0.068 0.048 0.17 0.089 0.27 0.1142 0.0793 0.0414 0.1829 0.0575 0.0978 0.1156 0.2402 0.088 0.078 0.094 0.098 0.066 rs9061 COSM3927760;COSM149088 1(stomach);3(soft_tissue);1(prostate) Benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000350537.1|RCV000455434.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . 0.196 0.207 T 0.02 0.208 B 0.008 0.127 B 0.145 0.029 N 1 0.090 P 0.695 0.181 N 2.88 0.103 T -0.69 0.197 N 0.071 0.501 -0.952 0.407 T 0.000 0.000 T . . . 1.165 0.206 11.56 0.603 0.063 0.012 0.043 N c -1.783 -1.823 1.000 0.436 0.707 0.730 0 -4.55 0.032 -0.444 0.069 -0.879 0.027 0.000 0.063 0.020 0.134 5.213 0.146 . . . 0.1107 0.0752 0.0428 0.1636 0.1784 0.0585 0.0966 0.1049 0.2376 0.0958 0.0752 0.0406 0.1821 0.1807 0.0570 0.1083 0.1059 het 1173.04 117 2 231077110 . C T 1173.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.334;DP=117;Dels=0.00;FS=1.476;HRun=2;HaplotypeScore=2.6766;MQ=59.16;MQ0=0;MQRankSum=0.362;QD=10.03;ReadPosRankSum=-0.848;VQSLOD=6.2047;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,49:117:99:1203,0,1822 2 231077676 231077676 G A exonic SP110 nonsynonymous SNV SP110:NM_004509:exon4:c.C383T:p.A128V,SP110:NM_004510:exon4:c.C383T:p.A128V,SP110:NM_080424:exon4:c.C383T:p.A128V,SP110:NM_001185015:exon5:c.C401T:p.A134V 0.097 0.017 0.049 0.076 0.087 0.27 0.1040 0.0288 0.0390 0.0977 0.0601 0.0991 0.1013 0.2377 0.071 0.028 0.094 0.054 0.074 rs11556887 COSM3927761;COSM149089 1(stomach);3(soft_tissue);5(prostate);1(large_intestine) Benign|Benign Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified RCV000264680.1|RCV000455477.1 MedGen:OMIM:Orphanet|MedGen C1856128:235550:ORPHA79124|CN169374 . . . . . . 0.06 0.518 T 0.762 0.764 P 0.282 0.686 B 0.029 0.255 N 1 0.090 N 1.895 0.505 L 3.03 0.089 T -1.72 0.488 N 0.03 0.459 -1.053 0.137 T 0.002 0.005 T . . . 1.924 0.292 15.74 0.996 0.751 0.057 0.115 N c -0.521 -0.750 0.984 0.306 0.707 0.730 0 -1.09 0.093 0.128 0.155 1.048 0.713 0.000 0.063 0.091 0.185 1.460 0.022 . . . 0.1025 0.0272 0.0407 0.1638 0.0988 0.0615 0.0983 0.0982 0.2353 0.0779 0.0255 0.0418 0.1821 0.0909 0.0595 0.1098 0.1 het 1249.29 126 2 231077676 . G A 1249.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.777;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1119;MQ=59.19;MQ0=0;MQRankSum=0.662;QD=9.92;ReadPosRankSum=-0.497;VQSLOD=6.4706;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,53:126:99:1279,0,2047 2 231077725 231077725 A G exonic SP110 nonsynonymous SNV SP110:NM_004509:exon4:c.T334C:p.W112R,SP110:NM_004510:exon4:c.T334C:p.W112R,SP110:NM_080424:exon4:c.T334C:p.W112R,SP110:NM_001185015:exon5:c.T352C:p.W118R 0.95 1. 0.9 1. 0.88 0.95 0.9091 0.9804 0.9379 0.9977 0.8665 0.8788 0.8982 0.9375 0.91 0.98 0.88 0.99 0.91 rs1129411 . . Benign not_specified RCV000456033.1 MedGen CN169374 . . . . . . 0.358 0.120 T 0.0 0.102 B 0.0 0.063 B 0.207 0.034 N 1 0.090 P 0 0.065 N 3.11 0.082 T 1.45 0.010 N 0.008 0.618 -1.026 0.218 T 0.000 0.000 T . . . -0.707 0.045 0.069 0.478 0.039 0.020 0.060 N c -1.717 -1.706 0.985 0.307 0.707 0.730 0 -0.859 0.101 -0.189 0.095 -3.917 0.001 0.000 0.063 0.000 0.016 6.193 0.196 . ENSG00000135899.12 Brain_Putamen_basal_ganglia 0.9096 0.9816 0.9361 0.9248 0.9983 0.8690 0.8767 0.8988 0.9381 0.9136 0.9746 0.9234 0.9238 0.9981 0.8638 0.8822 0.8783 hom 3502.18 118 2 231077725 . A G 3502.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.693;DP=118;Dels=0.00;FS=4.234;HRun=0;HaplotypeScore=7.2666;MQ=59.13;MQ0=0;MQRankSum=0.683;QD=29.68;ReadPosRankSum=0.515;VQSLOD=3.7168;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,115:118:99:3468,252,0 2 231110582 231110582 C T exonic SP140 synonymous SNV SP140:NM_001278451:exon7:c.C669T:p.S223S,SP140:NM_001278453:exon7:c.C660T:p.S220S,SP140:NM_007237:exon7:c.C669T:p.S223S 0.11 0.11 0.11 0.001 0.17 0.15 0.1510 0.1199 0.0999 0.0049 0.1227 0.1811 0.1520 0.1715 0.16 0.11 0.18 0.087 0.12 rs28445040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1493 0.1189 0.1050 0.1873 0.0024 0.1218 0.1849 0.1629 0.1710 0.1448 0.1147 0.0990 0.2086 0.0006 0.1311 0.1820 0.1480 het 904.63 80 2 231110582 . C T 904.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.862;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=0.000;QD=11.31;ReadPosRankSum=-0.811;VQSLOD=6.9954;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,37:80:99:935,0,1158 2 231149108 231149108 G A exonic SP140 nonsynonymous SNV SP140:NM_001278453:exon13:c.G1204A:p.E402K,SP140:NM_001278452:exon14:c.G1366A:p.E456K,SP140:NM_001278451:exon15:c.G1465A:p.E489K,SP140:NM_007237:exon16:c.G1546A:p.E516K 0.97 0.99 0.96 1. 0.92 0.99 0.9399 0.9878 0.9766 0.9986 0.9005 0.9111 0.9491 0.9874 0.94 0.98 0.92 0.99 0.92 rs4972946 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P -2.085 0.002 N 0.83 0.551 T 1.07 0.018 N 0.024 0.071 -0.990 0.327 T 0.000 0.000 T . . . -0.675 0.046 0.082 0.115 0.002 0.000 0.002 N c -1.700 -1.644 0.000 0.050 0.732 0.924 0 0.407 0.155 -0.741 0.049 0.169 0.246 0.000 0.063 0.000 0.016 4.141 0.096 . . . 0.9410 0.9863 0.9749 0.9706 0.9992 0.8983 0.9095 0.9461 0.9874 0.9362 0.9844 0.9737 0.9735 1 0.8918 0.9094 0.9255 het 529.37 57 2 231149108 . G A 529.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.862;DP=57;Dels=0.00;FS=3.715;HRun=4;HaplotypeScore=1.8663;MQ=58.60;MQ0=0;MQRankSum=0.076;QD=9.29;ReadPosRankSum=-0.617;VQSLOD=5.7099;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,25:57:99:559,0,704 2 231256812 231256812 A G exonic SP140L synonymous SNV SP140L:NM_001308163:exon10:c.A795G:p.A265A,SP140L:NM_001308162:exon11:c.A900G:p.A300A,SP140L:NM_138402:exon12:c.A975G:p.A325A 0.2 0.2 0.22 0.069 0.32 0.22 0.2632 0.2372 0.1713 0.0668 0.3578 0.3049 0.2873 0.2374 0.28 0.21 0.31 0.23 . rs7559665 COSM3758013;COSM3758012 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2596 0.2316 0.1783 0.2683 0.0608 0.3463 0.3070 0.2656 0.2349 0.2827 0.2332 0.1826 0.3079 0.0621 0.3489 0.3245 0.2908 het 1117.03 101 2 231256812 . A G 1117.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.610;DP=101;Dels=0.00;FS=1.624;HRun=0;HaplotypeScore=1.4679;MQ=58.88;MQ0=0;MQRankSum=0.921;QD=11.06;ReadPosRankSum=-0.485;VQSLOD=6.6324;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,46:101:99:1147,0,1560 2 231331896 231331896 G A exonic SP100 synonymous SNV SP100:NM_001206703:exon12:c.G1182A:p.S394S,SP100:NM_001080391:exon13:c.G1257A:p.S419S,SP100:NM_001206701:exon13:c.G1257A:p.S419S,SP100:NM_001206702:exon13:c.G1257A:p.S419S,SP100:NM_003113:exon13:c.G1257A:p.S419S,SP100:NM_001206704:exon14:c.G1152A:p.S384S 0.66 0.61 0.65 0.48 0.76 0.85 0.7189 0.6273 0.6043 0.4844 0.7247 0.7541 0.7247 0.8347 0.71 0.63 0.75 0.64 0.83 rs1050224 COSM4001534;COSM4001535;COSM4001533 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7136 0.6268 0.6109 0.7789 0.4823 0.7229 0.7521 0.7162 0.8308 0.7024 0.6164 0.6435 0.7517 0.4932 0.7314 0.7693 0.7210 hom 6088.68 194 2 231331896 . G A 6088.68 Mask AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8997;MQ=58.68;MQ0=0;QD=31.38;VQSLOD=8.9257;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:6088,475,0 2 231333763 231333763 A G exonic SP100 nonsynonymous SNV SP100:NM_001206703:exon13:c.A1213G:p.M405V,SP100:NM_001080391:exon14:c.A1297G:p.M433V,SP100:NM_001206701:exon14:c.A1297G:p.M433V,SP100:NM_001206702:exon14:c.A1297G:p.M433V,SP100:NM_003113:exon14:c.A1297G:p.M433V,SP100:NM_001206704:exon15:c.A1192G:p.M398V 0.18 0.069 0.17 0.064 0.32 0.31 0.2623 0.0916 0.1195 0.0656 0.1987 0.3289 0.2660 0.3293 0.25 0.1 0.32 0.12 0.26 rs12724 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 2.48 0.782 T -0.04 0.191 N 0.305 0.365 -1.039 0.175 T 0.000 0.000 T . . . -2.388 0.004 0.001 0.152 0.004 0.002 0.012 N c -1.597 -1.681 0.969 0.290 0.707 0.730 0 -4.21 0.035 -0.518 0.063 -1.293 0.014 0.000 0.063 0.002 0.062 0.246 0.002 . . . 0.2513 0.0884 0.1277 0.3450 0.0603 0.2030 0.3230 0.2623 0.3204 0.2289 0.0894 0.1758 0.3278 0.0530 0.2089 0.3324 0.2675 het 1537.63 130 2 231333763 . A G 1537.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.740;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5257;MQ=59.25;MQ0=0;MQRankSum=-1.135;QD=11.83;ReadPosRankSum=0.907;VQSLOD=5.8123;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,62:130:99:1568,0,1648 2 231406680 231406680 T C exonic SP100 nonsynonymous SNV SP100:NM_001080391:exon28:c.T2477C:p.M826T 0.73 0.73 0.69 0.46 0.87 0.87 0.7995 0.7510 0.6459 0.4564 0.8341 0.8561 0.8167 0.8714 0.82 0.76 0.85 0.71 0.9 rs836237 COSM4001536 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.573 0.061 T 0.001 0.112 B 0.011 0.145 B . . . 1 0.090 P . . . 1.65 0.276 T -0.38 0.134 N 0.021 0.143 -1.037 0.183 T 0.000 0.000 T . . . -2.100 0.007 0.001 0.264 0.013 0.016 0.052 N c -1.985 -2.066 1.000 0.747 0.731 0.878 0 -8.27 0.009 -2.098 0.014 -2.100 0.004 0.000 0.063 0.000 0.016 5.873 0.179 High mobility group box domain . . 0.7930 0.7463 0.6559 0.9297 0.4499 0.8262 0.8523 0.8261 0.8696 0.7966 0.7464 0.6874 0.8974 0.4437 0.8331 0.8580 0.8186 hom 2513.03 86 2 231406680 . T C 2513.03 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.958;DP=86;Dels=0.00;FS=3.170;HRun=0;HaplotypeScore=7.6667;MQ=59.22;MQ0=0;MQRankSum=1.651;QD=29.22;ReadPosRankSum=0.917;VQSLOD=3.4510;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,85:86:99:2546,185,0 2 231738168 231738168 G A exonic ITM2C nonsynonymous SNV ITM2C:NM_001012516:exon2:c.G157A:p.G53S,ITM2C:NM_030926:exon2:c.G157A:p.G53S,ITM2C:NM_001287241:exon3:c.G157A:p.G53S 0.51 0.23 0.53 0.81 0.5 0.57 0.5206 0.2598 0.5823 0.8503 0.5920 0.4890 0.5390 0.5664 0.41 0.25 0.48 0.51 0.42 rs2289235 . . . . . . . . . . . . . 0.649 0.049 T 0.0 0.067 B 0.001 0.040 B 0.287 0.148 N 1 0.186 P -0.145 0.044 N 1.62 0.282 T 0.68 0.030 N 0.023 0.361 -0.974 0.363 T 0.000 0.000 T . . . -1.267 0.023 0.005 0.720 0.095 0.112 0.163 N c -1.369 -1.281 1.000 0.489 0.672 0.522 0 -2.61 0.058 0.232 0.175 -0.343 0.071 0.984 0.356 0.109 0.192 4.686 0.121 . . . 0.5278 0.2499 0.5810 0.5421 0.8516 0.5893 0.4810 0.5282 0.5564 0.4628 0.2480 0.5791 0.5066 0.8478 0.5842 0.5064 0.5327 het 687.96 61 2 231738168 . G A 687.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.251;DP=61;Dels=0.00;FS=3.940;HRun=0;HaplotypeScore=1.7781;MQ=58.23;MQ0=0;MQRankSum=2.811;QD=11.28;ReadPosRankSum=-0.361;VQSLOD=3.7116;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,25:61:99:718,0,901 2 231738263 231738263 C T exonic ITM2C synonymous SNV ITM2C:NM_001012516:exon2:c.C252T:p.F84F,ITM2C:NM_001287240:exon2:c.C66T:p.F22F,ITM2C:NM_030926:exon2:c.C252T:p.F84F,ITM2C:NM_001287241:exon3:c.C252T:p.F84F 0.51 0.23 0.53 0.82 0.5 0.57 0.5193 0.2561 0.5785 0.8485 0.5889 0.4889 0.5343 0.5623 0.4 0.25 0.48 0.51 0.44 rs2289234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5279 0.2458 0.5783 0.5408 0.8522 0.5896 0.4825 0.5266 0.5559 0.4612 0.2426 0.5835 0.5066 0.8470 0.5848 0.5060 0.5278 het 636.95 90 2 231738263 . C T 636.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.755;DP=90;Dels=0.00;FS=0.874;HRun=2;HaplotypeScore=0.9469;MQ=59.17;MQ0=0;MQRankSum=0.871;QD=7.08;ReadPosRankSum=-0.460;VQSLOD=5.6646;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,31:90:99:667,0,1561 2 231738269 231738269 G A exonic ITM2C synonymous SNV ITM2C:NM_001012516:exon2:c.G258A:p.A86A,ITM2C:NM_001287240:exon2:c.G72A:p.A24A,ITM2C:NM_030926:exon2:c.G258A:p.A86A,ITM2C:NM_001287241:exon3:c.G258A:p.A86A 0.51 0.23 0.53 0.81 0.5 0.57 0.5193 0.2560 0.5781 0.8487 0.5894 0.4889 0.5343 0.5622 0.4 0.25 0.48 0.51 0.44 rs2289233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5282 0.2459 0.5794 0.5419 0.8520 0.5898 0.4827 0.5271 0.5563 0.4614 0.2425 0.5849 0.5066 0.8474 0.5849 0.5064 0.5278 het 698.13 88 2 231738269 . G A 698.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.102;DP=88;Dels=0.00;FS=0.866;HRun=0;HaplotypeScore=1.7791;MQ=59.15;MQ0=0;MQRankSum=-0.962;QD=7.93;ReadPosRankSum=-0.696;VQSLOD=5.7433;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,31:88:99:728,0,1472 2 231973465 231973465 T G exonic HTR2B synonymous SNV HTR2B:NM_000867:exon4:c.A1212C:p.S404S,HTR2B:NM_001320758:exon4:c.A1086C:p.S362S . . . . . . 4.121e-05 0 0 0 0 7.495e-05 0 0 0.0001 . 0.0001 . . rs376620755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.476e-05 0 0 0 0 0 9.887e-05 0 0 6.457e-05 0 0 0 0 0 0.0001 0 het 861.11 92 2 231973465 . T G 861.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.616;DP=92;Dels=0.00;FS=4.138;HRun=1;HaplotypeScore=0.9159;MQ=58.83;MQ0=0;MQRankSum=0.605;QD=9.36;ReadPosRankSum=0.889;VQSLOD=4.1563;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,37:92:99:891,0,1512 2 232072912 232072912 T C exonic ARMC9 synonymous SNV ARMC9:NM_001291656:exon3:c.T124C:p.L42L,ARMC9:NM_025139:exon3:c.T124C:p.L42L 0.25 0.36 0.23 0.14 0.29 0.18 0.2590 0.3615 0.2527 0.1507 0.3582 0.2664 0.2539 0.1864 0.29 0.36 0.26 0.27 0.24 rs11558174 COSM149093;COSM149092 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2553 0.3644 0.2459 0.3209 0.1461 0.3512 0.2542 0.2785 0.1791 0.2978 0.3628 0.2458 0.3411 0.1231 0.3534 0.2681 0.2951 het 540.69 60 2 232072912 . T C 540.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.444;DP=60;Dels=0.00;FS=2.419;HRun=0;HaplotypeScore=1.9924;MQ=57.93;MQ0=0;MQRankSum=-1.703;QD=9.01;ReadPosRankSum=-1.718;VQSLOD=3.1560;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,23:60:99:571,0,911 2 232087474 232087474 A G exonic ARMC9 nonsynonymous SNV ARMC9:NM_001291656:exon6:c.A538G:p.I180V,ARMC9:NM_025139:exon6:c.A538G:p.I180V 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 0.9999 1 0.9999 0.99 0.99 0.99 . 0.92 rs1626450 . . . . . . . . . . . . . 0.16 0.237 T 0.005 0.119 B 0.027 0.198 B 0.000 0.477 D 1.000 0.090 P -0.55 0.024 N 2.37 0.160 T 0.66 0.023 N 0.097 0.098 -0.955 0.401 T 0.000 0.000 T . . . 3.808 0.514 23.4 0.995 0.708 0.239 0.220 N c -0.298 -0.043 1.000 0.747 0.732 0.924 0 5.59 0.846 6.699 0.743 0.076 0.183 1.000 0.715 0.994 0.587 14.725 0.688 Armadillo-like helical . . 0.9999 1 1.0000 1 1 1 0.9998 1 1.0000 0.9999 1 1 1 1 1 0.9998 1 hom 1523.51 49 2 232087474 . A G 1523.51 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9931;MQ=57.36;MQ0=0;QD=31.09;VQSLOD=6.2520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1557,120,0 2 232087475 232087475 T A exonic ARMC9 nonsynonymous SNV ARMC9:NM_001291656:exon6:c.T539A:p.I180K,ARMC9:NM_025139:exon6:c.T539A:p.I180K 1. 1. 1. 1. 1. 1. 0.9999 1 0.9998 1 0.9998 0.9999 1 0.9999 1. 1. 1. . 0.92 rs1626451 . . . . . . . . . . . . . 0.124 0.274 T 0.0 0.026 B 0.002 0.063 B 0.000 0.477 D 0.714 0.300 P -1.79 0.003 N 2.34 0.164 T 2.83 0.002 N 0.071 0.284 -0.953 0.405 T 0.000 0.000 T . . . 3.640 0.495 23.2 0.940 0.235 0.300 0.237 N c -0.403 -0.132 1.000 0.747 0.732 0.924 0 5.59 0.846 7.350 0.785 0.165 0.245 1.000 0.715 0.994 0.587 12.135 0.531 Armadillo-like helical . . 0.9999 1 0.9998 1 1 0.9999 0.9998 1 1.0000 0.9999 1 1 1 1 0.9997 0.9998 1 hom 1507.66 49 2 232087475 . T A 1507.66 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9973;MQ=57.36;MQ0=0;QD=30.77;VQSLOD=6.6716;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1541,120,0 2 232196564 232196564 C T exonic ARMC9 synonymous SNV ARMC9:NM_001291656:exon20:c.C1833T:p.L611L,ARMC9:NM_025139:exon20:c.C1833T:p.L611L 0.26 0.21 0.31 0.22 0.32 0.28 0.3034 0.2239 0.2863 0.2599 0.3505 0.3228 0.3044 0.2909 0.28 0.22 0.31 0.29 0.3 rs1669083 COSM149094;COSM149095 1(breast);1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3027 0.2164 0.2849 0.3809 0.2566 0.3499 0.3142 0.3044 0.2898 0.2859 0.2239 0.3091 0.4040 0.2890 0.3477 0.3012 0.3204 het 1290.79 97 2 232196564 . C T 1290.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.291;DP=97;Dels=0.00;FS=0.762;HRun=1;HaplotypeScore=5.5647;MQ=59.14;MQ0=0;MQRankSum=0.996;QD=13.31;ReadPosRankSum=0.938;VQSLOD=5.3485;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,52:97:99:1321,0,1126 2 232196597 232196597 G A exonic ARMC9 synonymous SNV ARMC9:NM_001291656:exon20:c.G1866A:p.T622T,ARMC9:NM_025139:exon20:c.G1866A:p.T622T 0.29 0.28 0.34 0.22 0.36 0.3 0.3409 0.2888 0.3055 0.2633 0.3740 0.3678 0.3424 0.3157 0.32 0.28 0.34 0.34 0.33 rs1669084 COSM3758018;COSM3758017 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3345 0.2798 0.3031 0.4277 0.2569 0.3742 0.3544 0.3343 0.3096 0.3266 0.2943 0.3353 0.4404 0.2883 0.3693 0.3357 0.3432 het 1121.52 71 2 232196597 . G A 1121.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.356;DP=71;Dels=0.00;FS=5.370;HRun=0;HaplotypeScore=1.8136;MQ=59.35;MQ0=0;MQRankSum=0.330;QD=15.80;ReadPosRankSum=-1.316;VQSLOD=5.4897;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,40:71:99:1152,0,852 2 232263127 232263127 G A exonic B3GNT7 nonsynonymous SNV B3GNT7:NM_145236:exon2:c.G697A:p.V233I 0.23 0.16 0.24 0.24 0.28 0.28 0.2468 0.1550 0.1686 0.2643 0.3329 0.2601 0.2444 0.2587 0.21 0.15 0.24 0.22 . rs2290130 COSM4415504 1(bone);1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.052 0.390 T 0.954 0.524 P 0.297 0.392 B 0.010 0.300 N 1.000 0.198 P 2.43 0.707 M 1.01 0.411 T -0.98 0.260 N 0.057 0.040 -0.996 0.309 T 0.000 0.000 T . . . 3.023 0.423 22.3 0.991 0.529 0.898 0.503 D c 0.129 0.113 1.000 0.517 0.719 0.830 0 3.84 0.433 3.575 0.534 0.953 0.551 1.000 0.715 0.838 0.350 10.276 0.425 . ENSG00000156966.6|ENSG00000156966.6|ENSG00000156966.6|ENSG00000172799.5 Artery_Aorta|Prostate|Testis|Whole_Blood 0.2459 0.1483 0.1805 0.3166 0.2612 0.3289 0.2503 0.2416 0.2592 0.2322 0.1582 0.2105 0.3411 0.2765 0.3259 0.2460 0.2556 het 2281.09 181 2 232263127 . G A 2281.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.461;DP=181;DS;Dels=0.00;FS=8.426;HRun=0;HaplotypeScore=3.7854;MQ=58.93;MQ0=0;MQRankSum=0.242;QD=12.60;ReadPosRankSum=0.731;VQSLOD=4.9513;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,90:181:99:2311,0,2499 2 232458443 232458443 T C exonic TEX44 nonsynonymous SNV TEX44:NM_152614:exon1:c.T781C:p.S261P 0.93 0.93 0.93 1. 0.89 0.89 0.9209 0.9285 0.9433 0.9988 0.9471 0.9052 0.8974 0.9137 0.92 0.93 0.91 0.9 0.91 rs10933378 COSM3758021 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.004 0.093 B 0.746 0.097 N 1 0.090 P 0 0.065 N 2.05 0.207 T 0.74 0.020 N 0.039 0.019 -1.003 0.290 T 0.000 0.000 T . . . -0.907 0.036 0.025 0.774 0.114 0.007 0.030 N c -1.792 -1.820 0.616 0.218 0.497 0.185 0 -6.39 0.018 -1.129 0.033 -1.987 0.005 0.001 0.137 0.003 0.074 2.722 0.048 . ENSG00000181798.2|ENSG00000181798.2|ENSG00000181798.2|ENSG00000181798.2|ENSG00000181798.2|ENSG00000181798.2|ENSG00000181798.2 Adipose_Visceral_Omentum|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.9229 0.9326 0.9448 0.8406 0.9992 0.9477 0.9090 0.9032 0.9146 0.9314 0.9355 0.9415 0.8576 0.9994 0.9447 0.9191 0.9369 hom 6872.08 204 2 232458443 . T C 6872.08 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.4552;MQ=59.09;MQ0=0;QD=33.69;VQSLOD=2.3946;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,203:204:99:6871,536,0 2 233244586 233244586 C G exonic ALPP synonymous SNV ALPP:NM_001632:exon5:c.C597G:p.S199S 0.95 0.99 0.87 0.93 0.94 0.96 0.9234 0.9834 0.8040 0.9175 0.8943 0.9296 0.9080 0.9600 0.95 0.98 0.93 0.97 0.89 rs2853374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9165 0.9845 0.8110 0.9475 0.9177 0.8961 0.9278 0.9176 0.9613 0.9357 0.9851 0.8341 0.95 0.9334 0.8974 0.9227 0.9184 hom 2983.98 102 2 233244586 . C G 2983.98 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=57.51;MQ0=0;QD=29.25;VQSLOD=6.2974;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3017,253,0 2 233349588 233349588 G A exonic ECEL1 nonsynonymous SNV ECEL1:NM_001290787:exon5:c.C982T:p.H328Y,ECEL1:NM_004826:exon5:c.C982T:p.H328Y 0.96 0.88 0.98 1. 0.98 1. 0.9832 0.9055 0.9897 1 0.9909 0.9881 0.9802 0.9961 0.96 0.9 0.99 0.95 1. rs1529874 COSM4133548 1(thyroid) Benign not_specified RCV000116938.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 1.000 0.205 P -1.245 0.008 N -1.55 0.817 D 0.62 0.024 N 0.07 0.058 -0.953 0.405 T 0.000 0.000 T . . . 0.181 0.111 4.482 0.264 0.013 0.160 0.190 N c -0.713 -0.502 1.000 0.747 0.741 0.977 0 4.88 0.630 4.110 0.573 0.164 0.245 1.000 0.715 0.983 0.502 10.550 0.441 Peptidase M13\x2c N-terminal domain . . 0.9848 0.9045 0.9901 0.9984 0.9999 0.9908 0.9865 0.9848 0.9959 0.9661 0.9135 0.9928 1 1 0.9920 0.9834 0.9878 hom 5029.16 164 2 233349588 . G A 5029.16 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3822;MQ=59.75;MQ0=0;QD=30.67;VQSLOD=7.9467;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,163:164:99:5028,427,0 2 233391306 233391306 G A exonic CHRND synonymous SNV CHRND:NM_000751:exon2:c.G120A:p.K40K,CHRND:NM_001256657:exon2:c.G120A:p.K40K 0.015 0.0015 0.026 . 0.053 0.0041 0.0303 0.0065 0.0162 0.0001 0.0984 0.0400 0.0433 0.0039 0.027 0.0079 0.036 0.011 0.033 rs55921262 . . other|Likely benign|Likely benign not_specified|Congenital_Myasthenic_Syndrome\x2c_Dominant/Recessive|Multiple_pterygium_syndrome_Escobar_type RCV000116729.4|RCV000345157.1|RCV000402331.1 MedGen|MedGen|MedGen:OMIM:Orphanet CN169374|CN239246|C0265261:265000:ORPHA294060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0316 0.0067 0.0191 0.0144 5.803e-05 0.0949 0.0397 0.0339 0.0051 0.0374 0.0067 0.0300 0.0166 0 0.0922 0.0460 0.0580 het 1535.04 150 2 233391306 . G A 1535.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DP=150;Dels=0.00;FS=2.077;HRun=2;HaplotypeScore=3.9945;MQ=58.97;MQ0=0;MQRankSum=-1.391;QD=10.23;ReadPosRankSum=-0.322;VQSLOD=4.4581;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,62:150:99:1565,0,2395 2 233410294 233410294 C T exonic CHRNG synonymous SNV CHRNG:NM_005199:exon12:c.C1422T:p.R474R 0.15 0.11 0.13 0.12 0.19 0.22 0.1869 0.1216 0.1515 0.1074 0.2052 0.2039 0.2191 0.2172 0.18 0.13 0.2 0.11 0.25 rs2099489 . . Benign|Likely benign not_specified|Multiple_pterygium_syndrome_Escobar_type RCV000174339.2|RCV000261523.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265261:265000:ORPHA294060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1871 0.1187 0.1575 0.2428 0.1076 0.2020 0.2014 0.2078 0.2143 0.1767 0.1210 0.1567 0.28 0.0988 0.2015 0.2100 0.1928 het 803.19 75 2 233410294 . C T 803.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.554;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3729;MQ=59.69;MQ0=0;MQRankSum=-0.439;QD=10.71;ReadPosRankSum=1.090;VQSLOD=5.9786;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,34:75:99:833,0,1207 2 233750074 233750074 C T exonic NGEF synonymous SNV NGEF:NM_001114090:exon8:c.G1077A:p.V359V,NGEF:NM_019850:exon10:c.G1353A:p.V451V 0.15 0.19 0.14 0.099 0.25 0.082 0.1933 0.1813 0.1586 0.0944 0.2866 0.2306 0.1839 0.0895 0.21 0.18 0.23 0.15 0.18 rs2292725 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1941 0.1781 0.1628 0.2908 0.0962 0.2799 0.2231 0.2151 0.0893 0.2158 0.1787 0.1579 0.2914 0.0932 0.2833 0.2359 0.2290 het 1755.13 166 2 233750074 . C T 1755.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.770;DP=166;Dels=0.00;FS=3.970;HRun=2;HaplotypeScore=1.8730;MQ=59.21;MQ0=0;MQRankSum=1.473;QD=10.57;ReadPosRankSum=-1.597;VQSLOD=5.6922;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,70:166:99:1785,0,2832 2 233757679 233757679 G A exonic NGEF synonymous SNV NGEF:NM_001114090:exon5:c.C795T:p.A265A,NGEF:NM_019850:exon7:c.C1071T:p.A357A 0.3 0.28 0.4 0.35 0.33 0.18 0.3096 0.2802 0.4186 0.3583 0.3346 0.3125 0.34 0.2033 0.3 0.29 0.3 0.26 0.26 rs748002 COSM4001544;COSM442488;COSM1482873 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3130 0.2825 0.4128 0.2898 0.3509 0.3363 0.3083 0.3246 0.2041 0.3137 0.2916 0.3768 0.3033 0.3358 0.3466 0.3141 0.3006 het 2948.28 198 2 233757679 . G A 2948.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.424;DP=198;Dels=0.00;FS=4.151;HRun=0;HaplotypeScore=7.3621;MQ=59.20;MQ0=0;MQRankSum=0.193;QD=14.89;ReadPosRankSum=0.932;VQSLOD=4.6876;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,111:198:99:2978,0,2277 2 233757697 233757697 A G exonic NGEF synonymous SNV NGEF:NM_001114090:exon5:c.T777C:p.I259I,NGEF:NM_019850:exon7:c.T1053C:p.I351I 0.94 1. 0.95 0.87 0.97 0.91 0.9495 0.9892 0.9442 0.8894 0.9492 0.9582 0.9490 0.9249 0.97 0.99 0.96 0.99 0.97 rs895432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9492 0.9893 0.9520 0.9920 0.8852 0.9474 0.9561 0.9561 0.9233 0.9622 0.9912 0.9522 0.9934 0.8654 0.9527 0.9585 0.9520 hom 5662.97 177 2 233757697 . A G 5662.97 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1761;MQ=59.32;MQ0=0;QD=31.99;VQSLOD=8.1396;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5662,469,0 2 233785015 233785015 G A exonic NGEF synonymous SNV NGEF:NM_001114090:exon3:c.C531T:p.P177P,NGEF:NM_019850:exon5:c.C807T:p.P269P 0.72 0.84 0.82 0.56 0.76 0.61 0.7500 0.8358 0.8093 0.5708 0.8044 0.7729 0.7406 0.6332 0.79 0.84 0.77 0.77 0.76 rs778354 COSM1406319;COSM4417169;COSM1406318 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7493 0.8324 0.8047 0.7188 0.5737 0.8020 0.7730 0.7602 0.6314 0.7966 0.8384 0.8062 0.7285 0.5694 0.8007 0.7979 0.7793 hom 2912.70 95 2 233785015 . G A 2912.70 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6828;MQ=58.87;MQ0=0;QD=30.66;VQSLOD=9.3935;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2946,229,0 2 233834975 233834975 A G exonic NGEF nonsynonymous SNV NGEF:NM_019850:exon3:c.T332C:p.M111T 0.84 0.93 0.9 0.84 0.85 0.68 0.8427 0.9194 0.9228 0.8464 0.8728 0.8417 0.8480 0.7281 0.87 0.92 0.85 0.89 0.85 rs4973588 COSM5003325;COSM5003324 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.009 N 1 0.090 P -0.205 0.041 N -0.19 0.659 T 0.26 0.044 N 0.022 0.296 -1.022 0.231 T 0.000 0.000 T . . . -3.398 0.000 0.001 0.137 0.003 0.020 0.059 N c -1.907 -2.008 0.944 0.275 0.666 0.498 0 -7.42 0.012 -1.310 0.028 -1.420 0.012 0.000 0.063 0.002 0.062 5.422 0.156 . . . 0.8446 0.9179 0.9144 0.7300 0.8412 0.8789 0.8496 0.8456 0.7289 0.8697 0.9195 0.8962 0.6987 0.8449 0.8761 0.8443 0.8635 het 2349.96 171 2 233834975 . A G 2349.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.751;DP=171;Dels=0.00;FS=1.938;HRun=0;HaplotypeScore=1.8947;MQ=59.53;MQ0=0;MQRankSum=2.782;QD=13.74;ReadPosRankSum=0.585;VQSLOD=5.4761;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,100:171:99:2380,0,1723 2 234229320 234229320 A G exonic SAG nonsynonymous SNV SAG:NM_000541:exon5:c.A226G:p.I76V 0.074 0.11 0.04 0.03 0.052 0.11 0.0954 0.1382 0.0640 0.0233 0.1335 0.0841 0.0925 0.1397 0.065 0.092 0.051 0.065 . rs7565275 . . Likely benign|Likely benign Retinitis_Pigmentosa\x2c_Recessive|Oguchi's_disease RCV000280977.1|RCV000338381.1 MedGen|MedGen:OMIM:SNOMED_CT CN239466|C1306122:258100:193687000 . . . . . . 0.191 0.310 T 0.74 0.410 P 0.802 0.564 P 0.000 0.629 D 0.022 0.810 P 1.905 0.510 L 1.57 0.293 T -0.79 0.219 N 0.057 0.059 -1.095 0.047 T 0.003 0.008 T . . . 1.215 0.212 11.83 0.998 0.856 0.884 0.480 D c 0.316 0.304 0.822 0.245 0.497 0.185 0 4.46 0.534 2.331 0.433 1.088 0.866 1.000 0.715 0.949 0.424 14.225 0.652 Arrestin\x2c N-terminal|Arrestin\x2c conserved site|Arrestin-like\x2c N-terminal|Immunoglobulin E-set . . 0.0579 0.0951 0.0275 0.0501 0.0131 0.0800 0.0512 0.0584 0.1093 0.0637 0.0847 0.0442 0.0596 0.0093 0.0819 0.0538 0.0733 het 381.77 36 2 234229320 . A G 381.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.634;DP=36;Dels=0.00;FS=3.009;HRun=0;HaplotypeScore=1.8410;MQ=58.96;MQ0=0;MQRankSum=0.665;QD=10.60;ReadPosRankSum=-1.172;VQSLOD=6.2796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,19:36:99:412,0,426 2 234255548 234255548 T C exonic SAG nonsynonymous SNV SAG:NM_000541:exon16:c.T1208C:p.V403A 0.14 0.26 0.11 0.047 0.086 0.15 0.1121 0.2647 0.0830 0.0300 0.1015 0.0956 0.0977 0.1502 0.13 0.23 0.083 0.15 . rs1046976 . . Benign|Benign Retinitis_Pigmentosa\x2c_Recessive|Oguchi's_disease RCV000344193.1|RCV000396577.1 MedGen|MedGen:OMIM:SNOMED_CT CN239466|C1306122:258100:193687000 . . . . . . 0.48 0.082 T 0.0 0.026 B 0.0 0.013 B 0.095 0.025 N 1 0.090 P 0 0.065 N 3.25 0.068 T 0.47 0.031 N 0.029 0.010 -0.944 0.419 T 0.000 0.000 T . . . -3.268 0.001 0.001 0.344 0.021 0.002 0.010 N c -2.000 -2.069 1.000 0.747 0.554 0.283 0 -8.79 0.007 -0.360 0.076 -1.279 0.014 0.000 0.063 0.001 0.043 2.887 0.053 . . . 0.0934 0.2436 0.0732 0.0728 0.0235 0.0841 0.0834 0.0836 0.1328 0.1205 0.2342 0.0967 0.1026 0.0173 0.0900 0.0756 0.1043 het 485.73 27 2 234255548 . T C 485.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.481;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=-1.230;QD=17.99;ReadPosRankSum=-0.427;VQSLOD=7.0222;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,17:27:99:516,0,247 2 234371351 234371351 G A exonic DGKD synonymous SNV DGKD:NM_003648:exon25:c.G3024A:p.T1008T,DGKD:NM_152879:exon26:c.G3156A:p.T1052T 0.12 0.16 0.11 0.043 0.1 0.15 0.0989 0.1565 0.0713 0.0227 0.0995 0.0962 0.1093 0.1320 0.12 0.16 0.096 0.087 0.033 rs2228939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0973 0.1619 0.0772 0.1044 0.0237 0.0999 0.0952 0.0960 0.1318 0.1073 0.1579 0.0907 0.1225 0.0185 0.1022 0.0892 0.1069 het 3024.65 221 2 234371351 . G A 3024.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.311;DP=221;DS;Dels=0.00;FS=2.851;HRun=0;HaplotypeScore=2.6638;MQ=59.13;MQ0=0;MQRankSum=0.926;QD=13.69;ReadPosRankSum=-0.292;VQSLOD=6.4840;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,108:221:99:3055,0,3156 2 234394487 234394487 G A exonic USP40 nonsynonymous SNV USP40:NM_018218:exon28:c.C3367T:p.R1123C 0.4 0.75 0.27 0.19 0.36 0.27 0.3540 0.7003 0.2412 0.1816 0.4175 0.3432 0.3706 0.3152 0.42 0.65 0.32 0.43 . rs1048603 COSM3758038;COSM3758039 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.117 0.282 T 0.0 0.026 B 0.001 0.040 B 0.836 0.070 N 1 0.090 P -0.895 0.014 N 3.59 0.046 T 0.71 0.021 N 0.125 0.221 -1.021 0.235 T 0.000 0.000 T . . . 1.367 0.228 12.62 0.945 0.243 0.015 0.049 N c -1.486 -1.424 1.000 0.417 0.507 0.198 0 -2.41 0.061 0.288 0.186 -0.149 0.108 0.383 0.258 0.081 0.181 12.567 0.555 . ENSG00000085982.9|ENSG00000085982.9 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.3180 0.6931 0.2225 0.3646 0.1540 0.3907 0.3105 0.3244 0.2895 0.4249 0.6876 0.2806 0.3675 0.1525 0.3868 0.3246 0.35 het 168.92 29 2 234394487 . G A 168.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.879;DP=29;Dels=0.00;FS=3.890;HRun=1;HaplotypeScore=2.7431;MQ=60.00;MQ0=0;MQRankSum=-0.659;QD=5.82;ReadPosRankSum=0.122;VQSLOD=4.0844;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,8:29:99:199,0,477 2 234449316 234449316 G A exonic USP40 synonymous SNV USP40:NM_018218:exon9:c.C1195T:p.L399L 0.82 0.77 0.87 0.85 0.76 0.88 0.8091 0.7795 0.8793 0.8694 0.7275 0.7922 0.7829 0.8487 0.79 0.78 0.79 0.83 . rs2167884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8093 0.7818 0.8747 0.7558 0.8727 0.7327 0.7939 0.7928 0.8486 0.7823 0.7799 0.8353 0.7715 0.8719 0.7420 0.7804 0.7873 hom 2940.99 94 2 234449316 . G A 2940.99 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2906;MQ=59.75;MQ0=0;QD=31.29;VQSLOD=8.1071;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2974,232,0 2 234590616 234590616 C A exonic UGT1A7 synonymous SNV UGT1A7:NM_019077:exon1:c.C33A:p.P11P 0.3 0.25 0.26 0.2 0.36 0.43 0.3511 0.2603 0.1850 0.1929 0.4624 0.3876 0.3601 0.4160 0.35 0.27 0.39 0.27 0.34 rs7577677 COSM3758045 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3502 0.2597 0.1993 0.4368 0.1947 0.4610 0.3854 0.3545 0.4114 0.3425 0.2611 0.2440 0.3709 0.1824 0.4582 0.3802 0.4153 het 1631.23 178 2 234590616 . C A 1631.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.364;DP=178;Dels=0.00;FS=2.794;HRun=0;HaplotypeScore=4.8583;MQ=59.41;MQ0=0;MQRankSum=1.979;QD=9.16;ReadPosRankSum=1.574;VQSLOD=3.6755;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,71:178:99:1661,0,3014 2 234601669 234601669 T G exonic UGT1A6 nonsynonymous SNV UGT1A6:NM_001072:exon1:c.T19G:p.S7A 0.36 0.38 0.34 0.22 0.38 0.48 0.3901 0.3858 0.2405 0.2236 0.5047 0.4106 0.4084 0.4554 0.4 0.39 0.41 0.37 0.38 rs6759892 COSM3758050 1(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.595 0.022 N 1.61 0.583 T 0.72 0.060 N 0.007 0.000 -0.989 0.329 T 0.000 0.000 T . . . -2.442 0.004 0.001 0.596 0.061 0.003 0.014 N c -1.648 -1.592 1.000 0.462 0.497 0.185 0 -0.718 0.106 -0.105 0.108 -0.819 0.031 0.000 0.063 0.000 0.016 0.768 0.009 . ENSG00000167165.14|ENSG00000224814.1 Esophagus_Mucosa|Esophagus_Mucosa 0.3881 0.3771 0.2566 0.4572 0.2277 0.5031 0.4066 0.3929 0.4537 0.3930 0.3760 0.2876 0.4040 0.2153 0.4960 0.4001 0.4499 het 520.45 54 2 234601669 . T G 520.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.026;DP=54;Dels=0.00;FS=1.103;HRun=0;HaplotypeScore=0.0000;MQ=58.00;MQ0=0;MQRankSum=0.857;QD=9.64;ReadPosRankSum=-1.732;VQSLOD=4.7020;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:550,0,905 2 234601965 234601965 A G exonic UGT1A6 synonymous SNV UGT1A6:NM_001072:exon1:c.A315G:p.L105L 0.34 0.37 0.3 0.22 0.33 0.47 0.3519 0.3633 0.2194 0.2232 0.4789 0.3536 0.3789 0.4455 0.36 0.37 0.36 0.34 0.33 rs1105880 COSM3758051 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3509 0.3616 0.2305 0.4188 0.2273 0.4772 0.3482 0.3517 0.4429 0.3577 0.3604 0.2512 0.3675 0.2155 0.4714 0.3469 0.4141 het 1111.03 77 2 234601965 . A G 1111.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.108;DP=77;Dels=0.00;FS=3.183;HRun=0;HaplotypeScore=3.4279;MQ=58.11;MQ0=0;MQRankSum=0.475;QD=14.43;ReadPosRankSum=-2.445;VQSLOD=4.2457;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,41:77:99:1141,0,942 2 234602191 234602191 A G exonic UGT1A6 nonsynonymous SNV UGT1A6:NM_001072:exon1:c.A541G:p.T181A 0.28 0.24 0.22 0.2 0.31 0.42 0.3133 0.2425 0.1633 0.1927 0.4362 0.3310 0.3293 0.4048 0.3 0.25 0.33 0.27 0.3 rs2070959 COSM4416000 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.729 0.075 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0.085 0.084 N 0.28 0.591 T 0.18 0.051 N 0.016 0.003 -1.021 0.234 T 0.000 0.000 T . . . -0.378 0.063 0.436 0.444 0.034 0.044 0.098 N c -1.858 -1.924 1.000 0.747 0.497 0.185 0 -9.43 0.005 -1.388 0.026 -1.254 0.015 0.000 0.063 0.000 0.016 11.548 0.498 . ENSG00000167165.14|ENSG00000224814.1 Esophagus_Mucosa|Esophagus_Mucosa 0.3128 0.2423 0.1728 0.3981 0.1944 0.4349 0.3265 0.3146 0.4010 0.3062 0.2433 0.2064 0.3311 0.1815 0.4338 0.3270 0.3763 het 3208.76 250 2 234602191 . A G 3208.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.324;DP=250;DS;Dels=0.00;FS=0.978;HRun=0;HaplotypeScore=4.8261;MQ=58.98;MQ0=0;MQRankSum=-0.233;QD=12.84;ReadPosRankSum=1.530;VQSLOD=5.4292;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,123:250:99:3239,0,3201 2 234602202 234602202 A C exonic UGT1A6 nonsynonymous SNV UGT1A6:NM_001072:exon1:c.A552C:p.R184S 0.32 0.3 0.3 0.22 0.33 0.47 0.3457 0.2984 0.2162 0.2231 0.4782 0.3532 0.3778 0.4452 0.34 0.31 0.36 0.3 0.32 rs1105879 COSM3758052 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.034 0.440 D 0.038 0.196 B 0.103 0.294 B . . . 0.999 0.219 P 1.745 0.454 L 0.26 0.593 T -2.1 0.478 N 0.139 0.263 -0.956 0.400 T 0.000 0.000 T . . . 0.485 0.141 7.318 0.949 0.251 0.170 0.194 N c -0.939 -1.018 1.000 0.747 0.497 0.185 0 -3.31 0.046 -0.880 0.043 0.227 0.256 0.000 0.063 0.009 0.108 9.964 0.407 . ENSG00000167165.14|ENSG00000224814.1 Esophagus_Mucosa|Esophagus_Mucosa 0.3466 0.3011 0.2277 0.4190 0.2273 0.4772 0.3480 0.3498 0.4427 0.3408 0.3021 0.2434 0.3609 0.2171 0.4719 0.3466 0.4102 het 2968.17 230 2 234602202 . A C 2968.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.826;DP=230;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7536;MQ=58.83;MQ0=0;MQRankSum=0.738;QD=12.91;ReadPosRankSum=0.052;VQSLOD=5.8969;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,111:230:99:2998,0,3170 2 234638249 234638249 A G exonic UGT1A3 synonymous SNV UGT1A3:NM_019093:exon1:c.A477G:p.A159A 0.57 0.83 0.52 0.36 0.42 0.64 0.4916 0.7646 0.4587 0.3322 0.4779 0.4478 0.4670 0.6098 0.55 0.75 0.45 0.53 0.5 rs7574296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4863 0.7687 0.4639 0.5325 0.3392 0.4769 0.4425 0.4785 0.6050 0.5304 0.7576 0.4916 0.5 0.3414 0.4782 0.4353 0.5010 het 4085.66 250 2 234638249 . A G 4085.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.599;DP=250;DS;Dels=0.00;FS=1.534;HRun=1;HaplotypeScore=5.1616;MQ=59.29;MQ0=0;MQRankSum=0.928;QD=16.34;ReadPosRankSum=0.358;VQSLOD=4.5144;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3414,0,3591 2 234750542 234750542 G C exonic HJURP nonsynonymous SNV HJURP:NM_001282963:exon5:c.C629G:p.S210C,HJURP:NM_001282962:exon6:c.C722G:p.S241C,HJURP:NM_018410:exon8:c.C884G:p.S295C 0.35 0.1 0.52 0.37 0.54 0.34 0.4694 0.1532 0.5405 0.3705 0.6058 0.5232 0.5198 0.3960 0.41 0.17 0.53 0.36 0.48 rs3732215 COSM1178465 1(prostate);1(thyroid) . . . . . . . . . . . 0.139 0.259 T 0.0 0.026 B 0.002 0.104 B 0.385 0.044 N 1 0.090 P 0.955 0.240 L 0.73 0.507 T -0.74 0.266 N 0.045 0.418 -0.905 0.474 T 0.000 0.000 T . . . -0.555 0.052 0.161 0.650 0.074 0.097 0.153 N c -1.054 -1.135 1.000 0.410 0.707 0.730 0 -0.842 0.102 0.050 0.139 -0.285 0.084 0.000 0.063 0.012 0.117 4.972 0.134 Holliday junction recognition protein\x2c HJURP ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2 Breast_Mammary_Tissue|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.4797 0.1519 0.5337 0.4844 0.3663 0.6024 0.5229 0.4956 0.3977 0.4296 0.1581 0.4976 0.4305 0.3879 0.6062 0.5389 0.5551 het 2342.15 142 2 234750542 . G C 2342.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.897;DP=142;Dels=0.00;FS=6.407;HRun=0;HaplotypeScore=4.1532;MQ=59.84;MQ0=0;MQRankSum=0.821;QD=16.49;ReadPosRankSum=-0.604;VQSLOD=4.1624;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,79:142:99:2372,0,1837 2 234750831 234750831 T C exonic HJURP nonsynonymous SNV HJURP:NM_001282963:exon5:c.A340G:p.R114G,HJURP:NM_001282962:exon6:c.A433G:p.R145G,HJURP:NM_018410:exon8:c.A595G:p.R199G 0.71 0.85 0.67 0.76 0.61 0.61 0.6395 0.7987 0.6341 0.7487 0.6632 0.6005 0.6454 0.6327 0.67 0.79 0.61 0.76 0.61 rs3806589 COSM4001570 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.046 T 0.0 0.026 B 0.0 0.013 B 0.507 0.051 N 1 0.090 P -1.935 0.002 N 3.23 0.322 T 0.49 0.030 N 0.013 0.365 -0.964 0.383 T 0.000 0.000 T . . . -0.095 0.085 1.768 0.230 0.010 0.009 0.036 N c -1.531 -1.425 1.000 0.414 0.707 0.730 0 1.37 0.211 -1.023 0.037 0.016 0.142 0.000 0.063 0.015 0.124 3.157 0.061 . ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2 Heart_Atrial_Appendage|Lung|Nerve_Tibial|Thyroid 0.6353 0.8025 0.6320 0.5992 0.7534 0.6576 0.5975 0.6210 0.6211 0.6804 0.7994 0.6031 0.5430 0.7787 0.6683 0.6106 0.6769 het 922.05 103 2 234750831 . T C 922.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.091;DP=103;Dels=0.00;FS=9.305;HRun=1;HaplotypeScore=5.9205;MQ=59.27;MQ0=0;MQRankSum=-0.232;QD=8.95;ReadPosRankSum=0.633;VQSLOD=4.0118;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,43:103:99:952,0,1834 2 234761225 234761225 C T exonic HJURP nonsynonymous SNV HJURP:NM_001282962:exon3:c.G226A:p.E76K,HJURP:NM_001282963:exon3:c.G226A:p.E76K,HJURP:NM_018410:exon3:c.G226A:p.E76K 0.35 0.1 0.51 0.39 0.52 0.34 0.4553 0.1509 0.5299 0.3744 0.5796 0.5050 0.4978 0.3843 0.39 0.16 0.51 0.34 0.38 rs2286430 . . . . . . . . . . . . . 0.345 0.125 T 0.017 0.172 B 0.003 0.121 B 0.438 0.047 N 1 0.090 P -0.425 0.029 N 0.82 0.481 T 0.88 0.017 N 0.121 0.157 -0.925 0.449 T 0.000 0.000 T . . . -0.039 0.090 2.225 0.315 0.018 0.011 0.041 N c -1.160 -1.324 1.000 0.747 0.722 0.854 0 -5.31 0.025 -3.067 0.007 -0.239 0.092 0.000 0.063 0.001 0.043 5.864 0.179 . ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2|ENSG00000224287.2 Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4655 0.1497 0.5238 0.4724 0.3715 0.5807 0.5036 0.4779 0.3857 0.4171 0.1535 0.4893 0.4139 0.3926 0.5865 0.5221 0.5348 het 877 64 2 234761225 . C T 877 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.216;DP=64;Dels=0.00;FS=0.952;HRun=2;HaplotypeScore=0.9578;MQ=59.42;MQ0=0;MQRankSum=0.585;QD=13.70;ReadPosRankSum=-1.033;VQSLOD=6.6666;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,37:64:99:907,0,618 2 234905078 234905078 C T exonic TRPM8 synonymous SNV TRPM8:NM_024080:exon22:c.C3048T:p.I1016I 0.16 0.08 0.32 0.082 0.25 0.13 0.2453 0.1047 0.3920 0.0853 0.2051 0.2831 0.2225 0.1796 0.22 0.11 0.28 0.15 0.32 rs11563208 COSM3758055 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2490 0.1036 0.3901 0.2101 0.0851 0.2015 0.2844 0.2654 0.1747 0.2161 0.1127 0.3854 0.2167 0.0778 0.2056 0.2821 0.2480 hom 4055.29 124 2 234905078 . C T 4055.29 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.253;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5610;MQ=59.46;MQ0=1;MQRankSum=1.704;QD=32.70;ReadPosRankSum=1.197;VQSLOD=8.1611;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,123:124:99:4019,283,0 2 234967539 234967539 T A exonic SPP2 synonymous SNV SPP2:NM_006944:exon3:c.T270A:p.T90T 0.69 0.61 0.68 0.63 0.72 0.84 0.7153 0.6135 0.5737 0.6132 0.7920 0.7389 0.7434 0.8049 0.69 0.62 0.72 0.62 0.68 rs593668 COSM5038145 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7100 0.6122 0.5803 0.6846 0.6157 0.7943 0.7355 0.7249 0.8044 0.7000 0.6102 0.6029 0.6987 0.6095 0.7990 0.7400 0.7658 het 1573.65 111 2 234967539 . T A 1573.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.606;DP=111;Dels=0.00;FS=7.578;HRun=1;HaplotypeScore=5.7265;MQ=58.01;MQ0=0;MQRankSum=0.312;QD=14.18;ReadPosRankSum=-0.823;VQSLOD=3.9324;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,62:111:99:1604,0,1164 2 235949877 235949877 T C exonic SH3BP4 nonsynonymous SNV SH3BP4:NM_014521:exon4:c.T464C:p.M155T 0.34 0.4 0.41 0.41 0.096 0.39 0.2199 0.3750 0.5058 0.4174 0.0762 0.1063 0.1865 0.3370 0.2 0.37 0.11 0.41 0.082 rs3731644 COSM149105 1(stomach);2(large_intestine) . . . . . . . . . . . 0.597 0.057 T 0.0 0.026 B 0.0 0.013 B 0.415 0.046 N 1 0.090 P -1.1 0.010 N 3.06 0.243 T 0.1 0.088 N 0.023 0.006 -0.920 0.456 T 0.000 0.000 T . . . -1.129 0.027 0.009 0.253 0.012 0.042 0.095 N c -1.300 -1.230 1.000 0.436 0.707 0.730 0 2.53 0.295 1.325 0.331 -0.340 0.072 0.004 0.165 0.006 0.095 3.184 0.062 . . . 0.2262 0.3759 0.4856 0.1711 0.4158 0.0808 0.1032 0.1997 0.3368 0.2017 0.3652 0.4327 0.1722 0.4147 0.0764 0.1042 0.1527 het 2093.47 154 2 235949877 . T C 2093.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.727;DP=154;Dels=0.00;FS=1.403;HRun=0;HaplotypeScore=1.7870;MQ=59.61;MQ0=0;MQRankSum=0.215;QD=13.59;ReadPosRankSum=0.602;VQSLOD=6.8407;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,74:154:99:2123,0,2098 2 235949920 235949920 A G exonic SH3BP4 synonymous SNV SH3BP4:NM_014521:exon4:c.A507G:p.P169P 0.33 0.4 0.34 0.41 0.091 0.39 0.2030 0.3731 0.3763 0.4178 0.0744 0.0985 0.1799 0.3372 0.19 0.37 0.1 0.37 0.082 rs3731645 COSM149106 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2056 0.3743 0.3656 0.1715 0.4161 0.0790 0.0953 0.1814 0.3369 0.1955 0.3632 0.3561 0.1722 0.4133 0.0753 0.0975 0.1436 het 2256.20 208 2 235949920 . A G 2256.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.242;DP=208;Dels=0.00;FS=3.160;HRun=0;HaplotypeScore=5.9521;MQ=59.27;MQ0=0;MQRankSum=1.480;QD=10.85;ReadPosRankSum=-0.200;VQSLOD=4.8424;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:112,96:208:99:2286,0,3089 2 235950002 235950002 G A exonic SH3BP4 nonsynonymous SNV SH3BP4:NM_014521:exon4:c.G589A:p.A197T 0.3 0.29 0.33 0.41 0.091 0.39 0.1930 0.2643 0.3708 0.4181 0.0744 0.0983 0.1744 0.3371 0.16 0.26 0.1 0.27 0.082 rs3731646 COSM4001573 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.674 0.045 T 0.0 0.026 B 0.0 0.013 B 0.085 0.206 N 1 0.090 P -1.3 0.007 N 3.03 0.089 T 0.26 0.044 N 0.01 0.009 -0.957 0.398 T 0.000 0.000 T . . . -1.475 0.017 0.003 0.195 0.007 0.007 0.030 N c -1.392 -1.331 1.000 0.416 0.707 0.730 0 -0.018 0.132 0.429 0.210 -0.114 0.115 0.001 0.137 0.038 0.155 5.750 0.173 . . . 0.1975 0.2614 0.3590 0.1713 0.4155 0.0790 0.0950 0.1766 0.3365 0.1633 0.2510 0.3484 0.1722 0.4127 0.0756 0.0970 0.1385 het 2057.80 196 2 235950002 . G A 2057.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.311;DP=196;Dels=0.00;FS=1.128;HRun=0;HaplotypeScore=4.4235;MQ=59.15;MQ0=0;MQRankSum=2.112;QD=10.50;ReadPosRankSum=0.391;VQSLOD=5.4798;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:116,80:196:99:2088,0,3160 2 235950187 235950187 T C exonic SH3BP4 synonymous SNV SH3BP4:NM_014521:exon4:c.T774C:p.D258D 0.72 0.86 0.64 0.91 0.45 0.68 0.5622 0.8071 0.6912 0.9226 0.4009 0.4503 0.5222 0.6472 0.57 0.8 0.45 0.72 0.5 rs1469375 COSM4133563 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5610 0.8107 0.6829 0.5284 0.9258 0.3939 0.4457 0.5397 0.6529 0.5831 0.8150 0.6563 0.5530 0.9383 0.4015 0.4544 0.4939 hom 7271.29 241 2 235950187 . T C 7271.29 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7115;MQ=59.15;MQ0=0;QD=30.17;VQSLOD=8.8067;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:7269,611,0 2 235950284 235950284 A C exonic SH3BP4 synonymous SNV SH3BP4:NM_014521:exon4:c.A871C:p.R291R 0.3 0.29 0.33 0.41 0.091 0.39 0.1938 0.2667 0.3719 0.4167 0.0744 0.0990 0.1726 0.3384 0.15 0.25 0.1 0.27 0.082 rs3731648 COSM149107 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1974 0.2611 0.3593 0.1709 0.4152 0.0790 0.0949 0.1756 0.3365 0.1636 0.2513 0.3496 0.1722 0.4130 0.0753 0.0971 0.1401 het 1144.57 123 2 235950284 . A C 1144.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.115;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3928;MQ=59.36;MQ0=0;MQRankSum=1.838;QD=9.31;ReadPosRankSum=2.178;VQSLOD=4.7236;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,50:123:99:1175,0,2170 2 235951819 235951819 A G exonic SH3BP4 synonymous SNV SH3BP4:NM_014521:exon4:c.A2406G:p.L802L 0.75 0.96 0.65 0.92 0.46 0.68 0.5864 0.9007 0.7017 0.9272 0.4105 0.4726 0.5411 0.6604 0.61 0.88 0.46 0.8 0.51 rs3795962 COSM1129279 1(breast);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5817 0.9045 0.6965 0.5604 0.9291 0.4028 0.4656 0.5598 0.6557 0.6143 0.9002 0.6623 0.5662 0.9377 0.4118 0.4656 0.4990 hom 4178.03 126 2 235951819 . A G 4178.03 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8966;MQ=58.34;MQ0=0;QD=33.16;VQSLOD=6.7412;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4178,319,0 2 236957822 236957822 G A exonic AGAP1 nonsynonymous SNV AGAP1:NM_014914:exon15:c.G1852A:p.V618I,AGAP1:NM_001037131:exon16:c.G2011A:p.V671I 0.69 0.94 0.72 0.73 0.51 0.48 0.6020 0.8816 0.7911 0.7586 0.5650 0.5248 0.5903 0.5389 0.63 0.86 0.52 0.74 0.49 rs2034648 COSM4133564 1(thyroid) . . . . . . . . . . . 0.422 0.100 T 0.0 0.026 B 0.0 0.080 B 0.021 0.268 N 1 0.090 P 1.56 0.396 L 0.98 0.421 T -0.27 0.121 N 0.008 0.134 -1.004 0.288 T 0.000 0.000 T . . . 0.576 0.149 7.985 0.914 0.201 0.025 0.069 N c -1.136 -1.114 0.999 0.397 0.719 0.830 0 0.316 0.150 0.638 0.242 -1.883 0.006 0.004 0.165 0.350 0.246 5.408 0.155 . . . 0.6030 0.8859 0.7762 0.4430 0.7508 0.5618 0.5301 0.5789 0.5401 0.6517 0.8745 0.75 0.4834 0.7407 0.5576 0.5363 0.5918 het 2580.96 193 2 236957822 . G A 2580.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.027;DP=193;DS;Dels=0.00;FS=2.587;HRun=1;HaplotypeScore=4.6533;MQ=59.47;MQ0=0;MQRankSum=0.065;QD=13.37;ReadPosRankSum=-0.338;VQSLOD=5.6921;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,93:193:99:2611,0,2755 2 237032607 237032607 T G exonic AGAP1 synonymous SNV AGAP1:NM_014914:exon17:c.T2256G:p.A752A,AGAP1:NM_001037131:exon18:c.T2415G:p.A805A 0.38 0.67 0.15 0.28 0.25 0.37 0.2924 0.6412 0.1131 0.2440 0.2994 0.2572 0.2722 0.3642 0.38 0.63 0.25 0.34 0.2 rs11895915 COSM4133565 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2760 0.6482 0.1185 0.1858 0.2527 0.2929 0.2576 0.2516 0.3640 0.3764 0.6330 0.1280 0.1523 0.2534 0.2937 0.2813 0.3320 het 1722.44 136 2 237032607 . T G 1722.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.564;DP=136;Dels=0.00;FS=7.866;HRun=0;HaplotypeScore=3.3680;MQ=58.66;MQ0=0;MQRankSum=-0.250;QD=12.66;ReadPosRankSum=1.308;VQSLOD=4.4212;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,70:136:99:1752,0,1652 2 237032703 237032703 T C exonic AGAP1 synonymous SNV AGAP1:NM_014914:exon17:c.T2352C:p.P784P,AGAP1:NM_001037131:exon18:c.T2511C:p.P837P 0.4 0.75 0.15 0.28 0.25 0.36 0.2988 0.7095 0.1164 0.2440 0.3005 0.2577 0.2749 0.3622 0.4 0.7 0.25 0.42 0.19 rs8178994 COSM4133566 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2809 0.7159 0.1224 0.1871 0.2525 0.2934 0.2580 0.2546 0.3621 0.3958 0.6984 0.1337 0.1589 0.2553 0.2950 0.2817 0.3381 het 1379.73 118 2 237032703 . T C 1379.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.166;DP=118;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=10.2253;MQ=59.32;MQ0=0;MQRankSum=-0.046;QD=11.69;ReadPosRankSum=0.604;VQSLOD=3.5099;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,52:118:99:1410,0,1722 2 237076096 237076096 C G exonic GBX2 synonymous SNV GBX2:NM_001301687:exon1:c.G519C:p.S173S,GBX2:NM_001485:exon1:c.G519C:p.S173S 0.062 0.027 0.046 0.002 0.12 0.12 0.1341 0.0699 0.0541 0.0012 0.2396 0.1541 0.1685 0.1756 0.083 0.04 0.1 . 0.041 rs112186240 COSM3749638 2(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1024 0.0448 0.0396 0.0941 0.0010 0.1551 0.1217 0.1094 0.1394 0.0999 0.0409 0.0314 0.0695 0.0006 0.1571 0.1336 0.1409 het 203.19 21 2 237076096 . C G 203.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.195;DP=21;Dels=0.00;FS=3.056;HRun=1;HaplotypeScore=1.8154;MQ=58.89;MQ0=0;MQRankSum=0.181;QD=9.68;ReadPosRankSum=-0.036;VQSLOD=5.5961;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,8:21:99:233,0,345 2 237103548 237103548 G A exonic ASB18 synonymous SNV ASB18:NM_212556:exon6:c.C1368T:p.Y456Y 0.19 0.44 0.095 0.002 0.15 0.13 0.1567 0.4242 0.0791 0.0018 0.1810 0.1433 0.1667 0.1743 0.21 0.39 0.13 0.17 . rs10177825 COSM3758057 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1422 0.4235 0.0745 0.1203 0.0016 0.1783 0.1363 0.1428 0.1585 0.2187 0.4173 0.0823 0.1093 0.0018 0.1809 0.1482 0.1837 het 476.69 39 2 237103548 . G A 476.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.184;DP=39;Dels=0.00;FS=1.236;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-0.070;QD=12.22;ReadPosRankSum=-0.351;VQSLOD=6.0004;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,20:39:99:507,0,569 2 237103623 237103623 A G exonic ASB18 synonymous SNV ASB18:NM_212556:exon6:c.T1293C:p.A431A 0.11 0.19 0.073 0.002 0.14 0.13 0.1217 0.1890 0.0612 0.0017 0.1504 0.1253 0.1475 0.1610 0.14 0.18 0.11 0.087 . rs10166966 COSM3758058 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1159 0.1899 0.0576 0.1155 0.0016 0.1533 0.1229 0.1224 0.1535 0.1432 0.1872 0.0585 0.1026 0.0018 0.1546 0.1355 0.1487 het 582.17 52 2 237103623 . A G 582.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.380;DP=52;Dels=0.00;FS=1.050;HRun=1;HaplotypeScore=0.9867;MQ=59.16;MQ0=0;MQRankSum=0.565;QD=11.20;ReadPosRankSum=-1.824;VQSLOD=5.4930;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:612,0,814 2 237103697 237103697 G T exonic ASB18 nonsynonymous SNV ASB18:NM_212556:exon6:c.C1219A:p.H407N 0.11 0.17 0.073 0.002 0.14 0.13 0.1228 0.1744 0.0619 0.0018 0.1534 0.1274 0.1562 0.1685 0.13 0.16 0.11 0.076 . rs10177957 . . . . . . . . . . . . . 0.003 0.682 D 0.964 0.539 D 0.71 0.527 P . . . 0.000 0.513 P 3.525 0.932 H 1.15 0.382 T -5.76 0.878 D 0.152 0.215 -1.028 0.210 T 0.001 0.003 T . . . 5.749 0.785 27.0 0.989 0.474 0.962 0.679 D c 0.563 0.508 0.510 0.210 0.497 0.185 0 3.73 0.418 4.134 0.575 0.126 0.213 1.000 0.715 0.967 0.454 11.276 0.482 SOCS box domain ENSG00000182177.9 Testis 0.1135 0.1700 0.0561 0.1127 0.0016 0.1524 0.1220 0.1211 0.1515 0.1379 0.1693 0.0562 0.1026 0.0018 0.1542 0.1352 0.1490 het 384.97 31 2 237103697 . G T 384.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.482;DP=31;Dels=0.00;FS=2.222;HRun=1;HaplotypeScore=0.9894;MQ=57.25;MQ0=0;MQRankSum=-0.850;QD=12.42;ReadPosRankSum=1.245;VQSLOD=4.2811;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:415,0,497 2 237374309 237374309 C T exonic IQCA1 synonymous SNV IQCA1:NM_001270584:exon6:c.G765A:p.Q255Q,IQCA1:NM_001270585:exon6:c.G786A:p.Q262Q,IQCA1:NM_024726:exon6:c.G765A:p.Q255Q 0.074 0.0076 0.076 0.001 0.18 0.12 0.1540 0.0303 0.0562 0.0004 0.2476 0.2069 0.1572 0.1219 0.16 0.037 0.21 0.11 . rs35432941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1486 0.0310 0.0580 0.1265 0.0003 0.2444 0.2064 0.1473 0.1176 0.1561 0.0354 0.0490 0.1192 0.0006 0.2331 0.2285 0.2096 het 497.25 46 2 237374309 . C T 497.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.635;DP=46;Dels=0.00;FS=15.012;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.731;QD=10.81;ReadPosRankSum=-0.867;VQSLOD=3.3692;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,18:46:99:527,0,803 2 237489904 237489904 C T exonic ACKR3 synonymous SNV ACKR3:NM_020311:exon2:c.C796T:p.L266L 0.35 0.74 0.22 0.049 0.25 0.32 0.2670 0.6666 0.1537 0.0302 0.1610 0.2507 0.2467 0.3283 0.4 0.66 0.27 0.32 0.23 rs1045879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2540 0.6677 0.1585 0.2505 0.0312 0.1711 0.2584 0.2397 0.3247 0.3462 0.6731 0.1835 0.2219 0.0371 0.1611 0.2527 0.2220 het 3023.53 250 2 237489904 . C T 3023.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.928;DP=250;DS;Dels=0.00;FS=1.021;HRun=1;HaplotypeScore=9.1426;MQ=59.64;MQ0=0;MQRankSum=-0.803;QD=12.09;ReadPosRankSum=0.486;VQSLOD=4.1725;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:3054,0,4119 2 238234285 238234285 A G exonic COL6A3 synonymous SNV COL6A3:NM_057166:exon40:c.T7590C:p.C2530C,COL6A3:NM_057167:exon42:c.T8793C:p.C2931C,COL6A3:NM_004369:exon43:c.T9411C:p.C3137C 0.01 0.0015 0.032 . 0.023 0.0051 0.0127 0.0022 0.0194 0 0.0051 0.0171 0.0187 0.0064 0.015 0.0032 0.022 0.011 0.016 rs112290343 . . other|Likely benign not_specified|Collagen_VI-related_myopathy RCV000081026.7|RCV000404714.1 MedGen|MedGen CN169374|CN117976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0136 0.0026 0.0188 0.0056 0 0.0049 0.0198 0.0186 0.0063 0.0115 0.0034 0.0263 0.0066 0 0.0054 0.0183 0.0102 het 2148.85 139 2 238234285 . A G 2148.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.722;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9872;MQ=59.13;MQ0=0;MQRankSum=-0.426;QD=15.46;ReadPosRankSum=-0.684;VQSLOD=5.4969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,77:139:99:2179,0,1578 2 238243292 238243292 G A exonic COL6A3 nonsynonymous SNV COL6A3:NM_057166:exon38:c.C7385T:p.T2462I,COL6A3:NM_057167:exon40:c.C8588T:p.T2863I,COL6A3:NM_004369:exon41:c.C9206T:p.T3069I 0.35 0.25 0.33 0.48 0.4 0.29 0.3884 0.2787 0.3200 0.4933 0.4957 0.4084 0.4071 0.3258 0.36 0.29 0.4 0.39 0.39 rs1131296 COSM4001575 1(haematopoietic_and_lymphoid_tissue);1(large_intestine);1(biliary_tract) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000081023.7|RCV000365788.1 MedGen|MedGen CN169374|CN117976 . . . . . . 0.259 0.230 T 0.002 0.102 B 0.003 0.112 B 0.719 0.099 N 0.991 0.267 P 0.2 0.092 N 1.58 0.291 T -1.33 0.366 N 0.018 0.035 -0.901 0.479 T 0.000 0.000 T . . . 1.843 0.282 15.24 0.879 0.170 0.484 0.280 N c -0.781 -0.697 0.999 0.375 0.615 0.372 0 -1.13 0.092 0.655 0.244 -0.097 0.117 0.669 0.281 0.903 0.383 9.599 0.386 Fibronectin type III|Immunoglobulin-like fold;von Willebrand factor\x2c type A . . 0.3854 0.2764 0.3111 0.3913 0.4770 0.4921 0.4018 0.4033 0.3274 0.3835 0.2803 0.3222 0.3874 0.4677 0.5026 0.4080 0.4162 hom 1978.86 66 2 238243292 . G A 1978.86 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.98;VQSLOD=14.0871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2012,165,0 2 238243464 238243464 C G exonic COL6A3 nonsynonymous SNV COL6A3:NM_057166:exon38:c.G7213C:p.A2405P,COL6A3:NM_057167:exon40:c.G8416C:p.A2806P,COL6A3:NM_004369:exon41:c.G9034C:p.A3012P 0.79 0.98 0.67 0.73 0.79 0.69 0.7729 0.9538 0.6511 0.7159 0.8078 0.7795 0.7676 0.7338 0.84 0.95 0.78 0.85 0.77 rs2270669 COSM5009454 1(large_intestine) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000081019.7|RCV000261014.1 MedGen|MedGen CN169374|CN117976 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.994 0.235 P -2.28 0.001 N 2.08 0.202 T 2.57 0.002 N 0.089 0.089 -0.939 0.428 T 0.000 0.000 T . . . 2.827 0.401 21.5 0.949 0.252 0.051 0.108 N c -0.826 -0.516 1.000 0.747 0.615 0.372 0 5.29 0.743 5.632 0.673 0.136 0.221 1.000 0.715 0.054 0.167 16.149 0.813 Fibronectin type III|Immunoglobulin-like fold;von Willebrand factor\x2c type A . . 0.7639 0.9545 0.6526 0.8568 0.7085 0.8024 0.7715 0.7793 0.7337 0.8168 0.9520 0.6790 0.8742 0.6939 0.7999 0.7640 0.7816 hom 5991.99 189 2 238243464 . C G 5991.99 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8237;MQ=59.76;MQ0=0;QD=31.70;VQSLOD=9.3028;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,188:189:99:5969,463,0 2 238244963 238244963 A G exonic COL6A3 nonsynonymous SNV COL6A3:NM_057166:exon37:c.T6959C:p.M2320T,COL6A3:NM_057167:exon39:c.T8162C:p.M2721T,COL6A3:NM_004369:exon40:c.T8780C:p.M2927T 0.64 0.81 0.55 0.54 0.69 0.51 0.6386 0.7832 0.5222 0.5460 0.7110 0.6626 0.6413 0.5528 0.7 0.78 0.65 0.7 0.53 rs6728818 COSM4997870 1(pancreas) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000081013.8|RCV000382239.1 MedGen|MedGen CN169374|CN117976 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.270 0.038 N 1 0.090 P -1.935 0.002 N -2.22 0.871 D 0.0 0.070 N 0.008 0.000 -0.941 0.425 T 0.000 0.000 T . . . 0.121 0.105 3.838 0.277 0.014 0.001 0.008 N c -1.258 -1.197 0.999 0.382 0.615 0.372 0 2.21 0.269 1.375 0.337 0.126 0.213 0.017 0.192 0.022 0.137 5.073 0.139 von Willebrand factor\x2c type A . . 0.6313 0.7832 0.5224 0.7240 0.5331 0.7120 0.6537 0.6637 0.5547 0.6836 0.7769 0.5394 0.7417 0.5173 0.7118 0.6493 0.6554 hom 5305.11 173 2 238244963 . A G 5305.11 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5146;MQ=58.67;MQ0=0;QD=30.67;VQSLOD=7.0949;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5304,463,0 2 238249630 238249630 C T exonic COL6A3 synonymous SNV COL6A3:NM_057166:exon35:c.G6108A:p.A2036A,COL6A3:NM_057167:exon37:c.G7311A:p.A2437A,COL6A3:NM_004369:exon38:c.G7929A:p.A2643A 0.34 0.21 0.33 0.48 0.43 0.29 0.3987 0.2490 0.3240 0.4949 0.4995 0.4295 0.4161 0.3294 0.37 0.26 0.42 0.38 0.41 rs4433949 COSM3758061 2(haematopoietic_and_lymphoid_tissue);3(large_intestine) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000081003.7|RCV000300148.1 MedGen|MedGen CN169374|CN117976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3969 0.2477 0.3183 0.4437 0.4772 0.4956 0.4217 0.4217 0.3316 0.3867 0.2522 0.3301 0.4669 0.4665 0.5072 0.4268 0.4337 hom 8090.77 250 2 238249630 . C T 8090.77 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8930;MQ=58.53;MQ0=0;QD=32.36;VQSLOD=8.8614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8090,659,0 2 238258814 238258814 C G exonic COL6A3 synonymous SNV COL6A3:NM_057166:exon25:c.G5034C:p.G1678G,COL6A3:NM_057167:exon27:c.G6237C:p.G2079G,COL6A3:NM_004369:exon28:c.G6855C:p.G2285G 0.55 0.59 0.47 0.67 0.53 0.48 0.5489 0.5841 0.4639 0.6668 0.5954 0.5474 0.5519 0.5123 0.56 0.58 0.55 0.69 0.44 rs3790993 COSM5009455 1(large_intestine) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000080973.7|RCV000276863.1 MedGen|MedGen CN169374|CN117976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5424 0.5821 0.4603 0.5782 0.6550 0.5856 0.5403 0.5481 0.5128 0.5655 0.5857 0.4880 0.6033 0.6442 0.5948 0.5419 0.5665 hom 3547.13 108 2 238258814 . C G 3547.13 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=32.84;VQSLOD=9.6472;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3547,277,0 2 238903399 238903399 G A exonic UBE2F synonymous SNV UBE2F:NM_001278306:exon3:c.G90A:p.V30V,UBE2F:NM_001278305:exon4:c.G162A:p.V54V,UBE2F:NM_001278308:exon4:c.G162A:p.V54V,UBE2F:NM_080678:exon4:c.G162A:p.V54V 0.1 0.0091 0.11 0.14 0.15 0.14 0.1402 0.0275 0.1937 0.1297 0.1197 0.1449 0.1476 0.1678 0.1 0.031 0.14 0.054 0.098 rs12615308 COSM3758082 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1431 0.0253 0.1825 0.2199 0.1242 0.1217 0.1409 0.1583 0.1657 0.1020 0.0269 0.1623 0.2185 0.1380 0.1143 0.1303 0.1469 het 656.55 77 2 238903399 . G A 656.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.141;DP=77;Dels=0.00;FS=0.897;HRun=0;HaplotypeScore=1.6208;MQ=60.00;MQ0=0;MQRankSum=0.651;QD=8.53;ReadPosRankSum=-0.090;VQSLOD=5.8285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,28:77:99:687,0,1274 2 238990388 238990388 G A exonic SCLY nonsynonymous SNV SCLY:NM_016510:exon5:c.G547A:p.A183T 0.25 0.039 0.44 0.23 0.46 0.23 0.3571 0.0826 0.3861 0.2117 0.4902 0.4329 0.3822 0.2250 0.31 0.094 0.42 0.26 0.39 rs3210400 COSM4001578 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.017 0.546 D 0.775 0.422 P 0.593 0.487 P 0.075 0.212 N 1 0.428 P 0.08 0.083 N 1.98 0.865 T -0.98 0.260 N 0.382 0.463 -0.877 0.500 T 0.000 0.000 T . . . 1.689 0.264 14.35 0.996 0.715 0.920 0.544 D c -0.013 -0.030 0.998 0.367 0.732 0.924 0 4.96 0.650 5.000 0.635 0.953 0.551 1.000 0.715 0.038 0.155 10.015 0.410 Aminotransferase class V domain|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 1 ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000184182.14|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000184182.14|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000184182.14|ENSG00000144488.10|ENSG00000184182.14|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000144488.10|ENSG00000184182.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.3649 0.0798 0.4004 0.3752 0.2104 0.4822 0.4289 0.4058 0.2272 0.3311 0.0864 0.3819 0.3967 0.1968 0.4788 0.4435 0.4265 het 1150.51 85 2 238990388 . G A 1150.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.498;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=59.12;MQ0=0;MQRankSum=0.161;QD=13.54;ReadPosRankSum=0.735;VQSLOD=6.6162;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1181,0,1183 2 239016539 239016539 C G exonic ESPNL synonymous SNV ESPNL:NM_194312:exon4:c.C780G:p.L260L 0.75 0.83 0.68 0.71 0.73 0.73 0.7099 0.8045 0.5960 0.7095 0.7361 0.7128 0.7284 0.7086 0.73 0.8 0.7 0.77 0.67 rs935415 COSM4133579 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6993 0.8040 0.5980 0.6434 0.7138 0.7208 0.7121 0.6958 0.7075 0.7328 0.8062 0.6124 0.6887 0.7113 0.7271 0.7023 0.7160 het 405.51 45 2 239016539 . C G 405.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.354;DP=45;Dels=0.00;FS=1.177;HRun=0;HaplotypeScore=0.9832;MQ=59.59;MQ0=0;MQRankSum=-0.239;QD=9.01;ReadPosRankSum=-2.127;VQSLOD=5.4019;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:436,0,711 2 239039183 239039183 G A exonic ESPNL nonsynonymous SNV ESPNL:NM_001308370:exon4:c.G724A:p.V242M,ESPNL:NM_194312:exon9:c.G1828A:p.V610M 0.13 0.24 0.085 0.053 0.11 0.12 0.1771 0.2825 0.1372 0.0813 0.1662 0.1808 0.2214 0.1653 0.14 0.2 0.11 0.065 0.041 rs73102303 . . . . . . . . . . . . . 0.733 0.051 T 0.414 0.334 B 0.029 0.203 B 0.079 0.210 N 1 0.090 P 0.175 0.091 N -0.05 0.634 T 0.4 0.035 N 0.04 0.260 -1.032 0.199 T 0.000 0.000 T . . . -0.898 0.036 0.026 0.138 0.003 0.054 0.111 N c -1.162 -1.201 0.830 0.246 0.581 0.326 0 -2.26 0.064 -1.223 0.030 -1.066 0.020 0.000 0.063 0.002 0.062 9.051 0.354 Ankyrin repeat-containing domain . . 0.1101 0.2099 0.0693 0.1781 0.0498 0.0799 0.1098 0.1241 0.1417 0.1287 0.2030 0.0871 0.1490 0.0469 0.0779 0.1111 0.0842 het 234.23 19 2 239039183 . G A 234.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.693;DP=19;Dels=0.00;FS=4.359;HRun=0;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=0.867;QD=12.33;ReadPosRankSum=-0.289;VQSLOD=5.4632;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,11:19:99:264,0,161 2 239039896 239039896 G C exonic ESPNL synonymous SNV ESPNL:NM_001308370:exon4:c.G1437C:p.P479P,ESPNL:NM_194312:exon9:c.G2541C:p.P847P 0.86 0.98 0.8 0.93 0.73 0.83 0.8143 0.9488 0.8586 0.9233 0.7752 0.7625 0.7787 0.8428 0.82 0.95 0.75 0.7 0.34 rs10182906 COSM4133581 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7953 0.9468 0.8443 0.7369 0.9168 0.7586 0.7342 0.7664 0.8393 0.8101 0.9465 0.8337 0.7252 0.9136 0.7602 0.7342 0.7720 het 82.02 14 2 239039896 . G C 82.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.919;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.071;QD=5.86;ReadPosRankSum=1.909;VQSLOD=9.5420;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,4:14:99:112,0,239 2 239040187 239040187 T C exonic ESPNL synonymous SNV ESPNL:NM_001308370:exon4:c.T1728C:p.G576G,ESPNL:NM_194312:exon9:c.T2832C:p.G944G 0.86 0.98 0.8 0.93 0.73 0.83 0.7989 0.9501 0.8627 0.9268 0.7743 0.7393 0.7912 0.8397 0.82 0.95 0.75 0.53 0.7 rs12692215 COSM3758088 1(haematopoietic_and_lymphoid_tissue);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7969 0.9490 0.8520 0.7349 0.9213 0.7667 0.7400 0.7710 0.8401 0.8131 0.9481 0.8389 0.7233 0.9141 0.7662 0.7373 0.7745 het 668.01 47 2 239040187 . T C 668.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.978;DP=47;Dels=0.00;FS=2.531;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.842;QD=14.21;ReadPosRankSum=0.842;VQSLOD=5.4945;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,22:47:99:698,0,708 2 239040218 239040218 G A exonic ESPNL nonsynonymous SNV ESPNL:NM_001308370:exon4:c.G1759A:p.A587T,ESPNL:NM_194312:exon9:c.G2863A:p.A955T 0.13 0.24 0.091 0.055 0.12 0.12 0.1210 0.2213 0.0719 0.0520 0.1019 0.1202 0.1472 0.1421 0.15 0.21 0.12 0.11 0.066 rs73102309 COSM4133582 1(pancreas);1(thyroid) . . . . . . . . . . . 0.416 0.100 T 0.001 0.067 B 0.002 0.063 B 0.612 0.109 N 1 0.090 P 0.865 0.215 L -0.06 0.636 T -0.79 0.219 N 0.008 0.160 -1.043 0.163 T 0.000 0.000 T . . . -1.852 0.010 0.002 0.878 0.169 0.119 0.168 N c -1.638 -1.745 1.000 0.458 0.554 0.283 0 -8.28 0.009 -1.204 0.031 -1.177 0.016 0.000 0.063 0.000 0.016 0.427 0.004 . . . 0.1150 0.2087 0.0717 0.1850 0.0493 0.0968 0.1148 0.1315 0.1431 0.1367 0.2038 0.0895 0.1556 0.0470 0.0945 0.1217 0.1025 het 656.37 57 2 239040218 . G A 656.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.432;DP=57;Dels=0.00;FS=1.300;HRun=0;HaplotypeScore=0.9989;MQ=59.34;MQ0=0;MQRankSum=1.091;QD=11.52;ReadPosRankSum=-1.285;VQSLOD=5.7554;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,24:57:99:686,0,921 2 239040343 239040343 G A exonic ESPNL synonymous SNV ESPNL:NM_001308370:exon4:c.G1884A:p.K628K,ESPNL:NM_194312:exon9:c.G2988A:p.K996K 0.086 0.092 0.062 0.055 0.091 0.12 0.0853 0.0842 0.0427 0.0506 0.0461 0.0891 0.0922 0.1403 0.088 0.086 0.089 0.054 0.066 rs73102311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0823 0.0806 0.0466 0.1342 0.0491 0.0444 0.0882 0.0844 0.1303 0.0790 0.0745 0.0632 0.1126 0.0462 0.0475 0.0928 0.0787 het 1401.55 162 2 239040343 . G A 1401.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.051;DP=162;Dels=0.00;FS=2.065;HRun=2;HaplotypeScore=1.6439;MQ=58.95;MQ0=0;MQRankSum=0.313;QD=8.65;ReadPosRankSum=1.126;VQSLOD=5.9065;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,57:162:99:1432,0,2872 2 239051550 239051550 T C exonic KLHL30 synonymous SNV KLHL30:NM_198582:exon3:c.T885C:p.F295F 0.93 0.98 0.89 0.93 0.86 0.96 0.9087 0.9716 0.9444 0.9397 0.9079 0.8774 0.9012 0.9568 0.92 0.97 0.89 0.94 . rs935411 COSM442580;COSM442581 1(kidney);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9040 0.9714 0.9403 0.9129 0.9389 0.9054 0.8767 0.8843 0.9548 0.9089 0.9713 0.9175 0.9007 0.9228 0.9049 0.8723 0.8973 het 247.65 23 2 239051550 . T C 247.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.889;DP=23;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=0.5784;MQ=58.99;MQ0=0;MQRankSum=0.854;QD=10.77;ReadPosRankSum=1.379;VQSLOD=6.0271;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:278,0,345 2 239155053 239155053 C T exonic PER2 nonsynonymous SNV PER2:NM_022817:exon23:c.G3731A:p.G1244E 0.17 0.0083 0.32 0.26 0.18 0.2 0.2176 0.0402 0.4013 0.2977 0.1327 0.2080 0.2052 0.2216 0.14 0.044 0.19 0.15 0.14 rs934945 COSM3758092 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.94 0.022 T 0.02 0.170 B 0.008 0.127 B 0.886 0.087 N 1 0.090 P 1.295 0.326 L 2.9 0.101 T -1.39 0.344 N 0.039 0.019 -0.929 0.444 T 0.000 0.000 T . . . 0.566 0.148 7.914 0.793 0.123 0.175 0.197 N c -0.921 -0.902 1.000 0.451 0.615 0.372 0 2.88 0.325 1.330 0.332 0.024 0.147 0.003 0.159 0.001 0.043 5.508 0.160 . ENSG00000144485.6|ENSG00000144485.6|ENSG00000225057.2 Nerve_Tibial|Pancreas|Testis 0.2062 0.0325 0.3653 0.1566 0.2785 0.1170 0.1941 0.2033 0.2033 0.1411 0.0359 0.3206 0.1391 0.2646 0.1233 0.1803 0.1881 het 357.39 34 2 239155053 . C T 357.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DP=34;Dels=0.00;FS=6.007;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.815;QD=10.51;ReadPosRankSum=0.921;VQSLOD=5.2077;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,13:34:99:387,0,589 2 239165636 239165636 C T exonic PER2 synonymous SNV PER2:NM_022817:exon17:c.G1992A:p.A664A 0.093 0.11 0.06 0.059 0.1 0.12 0.1014 0.1068 0.0331 0.0534 0.1777 0.1007 0.1090 0.1427 0.095 0.1 0.09 0.12 0.057 rs2304670 COSM3758093 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0980 0.1072 0.0352 0.1267 0.0539 0.1678 0.0941 0.1013 0.1414 0.1063 0.1046 0.0370 0.0960 0.0506 0.1605 0.1032 0.1303 het 1977.18 138 2 239165636 . C T 1977.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.161;DP=138;DS;Dels=0.00;FS=0.895;HRun=0;HaplotypeScore=11.3741;MQ=59.50;MQ0=0;MQRankSum=2.056;QD=14.33;ReadPosRankSum=-0.997;VQSLOD=2.9806;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,70:138:99:2007,0,1757 2 239237953 239237953 G T exonic TRAF3IP1 nonsynonymous SNV TRAF3IP1:NM_001139490:exon5:c.G885T:p.K295N,TRAF3IP1:NM_015650:exon5:c.G885T:p.K295N 0.21 0.022 0.35 0.24 0.3 0.22 0.2893 0.0589 0.3607 0.2341 0.2765 0.3282 0.3071 0.2427 0.23 0.067 0.32 0.21 0.36 rs12464423 COSM4416180;COSM4416179 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.107 0.574 T 0.904 0.479 P 0.625 0.497 P 0.336 0.140 N 0.681 0.365 P 2.43 0.707 M 2.09 0.201 T -1.56 0.424 N 0.019 0.022 -0.946 0.417 T 0.000 0.000 T . . . 1.738 0.270 14.62 0.986 0.432 0.873 0.465 D c -0.258 -0.317 0.729 0.230 0.732 0.924 0 2.52 0.294 0.060 0.141 0.154 0.240 0.000 0.063 0.870 0.364 8.217 0.305 . . . 0.2899 0.0574 0.3601 0.3989 0.2334 0.2813 0.3266 0.3248 0.2470 0.2492 0.0601 0.3508 0.3675 0.2324 0.2765 0.3413 0.3347 het 967.11 107 2 239237953 . G T 967.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.524;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;MQRankSum=0.833;QD=9.04;ReadPosRankSum=-0.377;VQSLOD=6.0944;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,44:107:99:997,0,1681 2 239353001 239353001 C T exonic ASB1 synonymous SNV ASB1:NM_001330196:exon3:c.C210T:p.D70D,ASB1:NM_001040445:exon4:c.C513T:p.D171D 0.085 0.15 0.017 0.079 0.042 0.094 0.0560 0.1425 0.0116 0.0782 0.1172 0.0303 0.0622 0.1036 0.062 0.14 0.025 0.11 0.0082 rs2290075 COSM4416148 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0518 0.1347 0.0137 0.0338 0.0812 0.1086 0.0263 0.0422 0.0944 0.0729 0.1390 0.0274 0.0298 0.0705 0.1103 0.0301 0.0631 het 1389.79 108 2 239353001 . C T 1389.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.264;DP=108;Dels=0.00;FS=0.735;HRun=0;HaplotypeScore=6.4615;MQ=57.77;MQ0=0;MQRankSum=1.362;QD=12.87;ReadPosRankSum=0.015;VQSLOD=4.4332;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,56:108:99:1420,0,1293 2 240003870 240003870 G A exonic HDAC4 synonymous SNV HDAC4:NM_006037:exon21:c.C2565T:p.P855P 0.6 0.59 0.65 0.69 0.44 0.63 0.5333 0.5669 0.7047 0.6877 0.4642 0.4672 0.5231 0.6068 0.51 0.57 0.47 0.41 0.49 rs1063639 COSM4133597 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5363 0.5666 0.6882 0.4788 0.6871 0.4658 0.4632 0.5159 0.6092 0.5092 0.5783 0.6277 0.4667 0.7295 0.4685 0.4490 0.5092 het 2405.42 199 2 240003870 . G A 2405.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.818;DP=199;Dels=0.00;FS=2.456;HRun=0;HaplotypeScore=8.4506;MQ=59.37;MQ0=0;MQRankSum=0.580;QD=12.09;ReadPosRankSum=0.669;VQSLOD=4.7058;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,95:199:99:2435,0,2889 2 240946766 240946766 T C exonic NDUFA10 synonymous SNV NDUFA10:NM_001322019:exon7:c.A771G:p.Q257Q,NDUFA10:NM_001322020:exon7:c.A771G:p.Q257Q,NDUFA10:NM_004544:exon7:c.A771G:p.Q257Q 0.36 0.29 0.44 0.47 0.41 0.21 0.4064 0.2955 0.4792 0.4459 0.5275 0.4324 0.4047 0.2504 0.37 0.29 0.41 0.46 0.32 rs13848 COSM3758099 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign|Likely benign|Likely benign not_specified|Mitochondrial_complex_I_deficiency|Leigh_syndrome RCV000117700.2|RCV000340422.1|RCV000392330.1 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1838979:252010|C0023264:256000:ORPHA506:29570005 . . . . . . 0.025 0.473 D . . . . . . . . . 1.000 0.206 P . . . -3.43 0.944 D -0.94 0.251 N . . -1.226 0.000 T 0.000 0.000 T . . . -0.779 0.041 0.048 0.809 0.130 0.002 0.011 N c -0.832 -0.965 0.249 0.187 0.732 0.924 0 1.66 0.230 -0.205 0.093 -0.339 0.072 0.631 0.278 0.001 0.043 7.645 0.273 P-loop containing nucleoside triphosphate hydrolase ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7|ENSG00000130414.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Testis|Thyroid|Whole_Blood 0.4002 0.2853 0.4701 0.3585 0.4442 0.5172 0.4126 0.4011 0.2402 0.4118 0.2941 0.4821 0.3411 0.4629 0.5229 0.4443 0.4430 het 777.49 46 2 240946766 . T C 777.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.117;DP=46;Dels=0.00;FS=2.729;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.641;QD=16.90;ReadPosRankSum=-0.124;VQSLOD=6.1314;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,28:46:99:807,0,410 2 241066280 241066280 C T exonic COPS9 synonymous SNV COPS9:NM_138336:exon5:c.G459A:p.E153E 0.72 0.97 0.67 0.73 0.57 0.56 0.6043 0.9137 0.6734 0.7380 0.5502 0.5402 0.6178 0.5712 0.67 0.9 0.55 0.79 0.58 rs4292120 COSM4133650 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6042 0.9177 0.6725 0.6088 0.7434 0.5564 0.5379 0.6101 0.5686 0.6676 0.9089 0.6539 0.6033 0.7327 0.5462 0.5573 0.5615 het 2472.19 192 2 241066280 . C T 2472.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DP=192;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9372;MQ=59.09;MQ0=0;MQRankSum=0.055;QD=12.88;ReadPosRankSum=-1.164;VQSLOD=6.0420;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,93:192:99:2502,0,2663 2 241401741 241401741 C T exonic GPC1 synonymous SNV GPC1:NM_002081:exon3:c.C459T:p.R153R 0.15 0.21 0.14 0.024 0.2 0.16 0.2082 0.2143 0.1349 0.0175 0.2539 0.2510 0.2199 0.1625 0.2 0.18 0.21 0.21 0.18 rs1042829 COSM442611 2(breast);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1723 0.1812 0.1187 0.2460 0.0118 0.1946 0.2108 0.1897 0.1415 0.2084 0.1844 0.1480 0.2152 0.0179 0.2138 0.2449 0.2122 het 288.65 23 2 241401741 . C T 288.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.698;DP=23;Dels=0.00;FS=7.991;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.651;QD=12.55;ReadPosRankSum=2.574;VQSLOD=3.6260;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,13:23:99:319,0,229 2 241405485 241405485 C T exonic GPC1 synonymous SNV GPC1:NM_002081:exon9:c.C1455T:p.G485G 0.15 0.18 0.13 0.015 0.21 0.18 0.1820 0.1854 0.1094 0.0089 0.1403 0.2252 0.1732 0.1682 0.21 0.17 0.23 0.076 0.16 rs2228330 COSM3758105 1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1741 0.1768 0.1108 0.2450 0.0091 0.1264 0.2247 0.1844 0.1681 0.1768 0.1806 0.1328 0.2933 0.0068 0.1272 0.2051 0.1724 het 370.94 37 2 241405485 . C T 370.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.418;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7842;MQ=58.41;MQ0=0;MQRankSum=-0.665;QD=10.03;ReadPosRankSum=0.170;VQSLOD=5.3768;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,15:37:99:401,0,591 2 241405528 241405528 A G exonic GPC1 nonsynonymous SNV GPC1:NM_002081:exon9:c.A1498G:p.S500G 0.66 0.92 0.65 0.34 0.7 0.62 0.6642 0.9025 0.5728 0.3346 0.6761 0.6975 0.6788 0.6139 0.77 0.89 0.71 0.72 0.63 rs2228331 COSM3721956 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.81 0.030 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.495 0.005 N 0.83 0.478 T 1.36 0.009 N 0.248 0.394 -0.972 0.368 T 0.000 0.000 T . . . -1.145 0.027 0.008 0.454 0.035 0.038 0.090 N c -1.513 -1.386 0.538 0.212 0.696 0.567 0 1.97 0.252 0.163 0.162 -0.359 0.068 0.002 0.151 0.002 0.062 7.969 0.291 . . . 0.6568 0.9053 0.5728 0.6446 0.3274 0.6810 0.7057 0.6741 0.6190 0.7312 0.9028 0.6007 0.7053 0.3404 0.6828 0.6961 0.6790 het 520.38 57 2 241405528 . A G 520.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.427;DP=57;Dels=0.00;FS=1.082;HRun=1;HaplotypeScore=2.6766;MQ=58.78;MQ0=0;MQRankSum=-0.352;QD=9.13;ReadPosRankSum=1.400;VQSLOD=5.8693;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,23:57:99:550,0,1046 2 241451350 241451350 C T exonic ANKMY1 synonymous SNV ANKMY1:NM_001282780:exon9:c.G1524A:p.T508T,ANKMY1:NM_001308375:exon9:c.G1761A:p.T587T,ANKMY1:NM_001282781:exon10:c.G1230A:p.T410T,ANKMY1:NM_016552:exon10:c.G1947A:p.T649T,ANKMY1:NM_001282771:exon11:c.G2214A:p.T738T 0.078 0.066 0.098 0.0069 0.15 0.076 0.1308 0.0804 0.0644 0.0087 0.1768 0.1698 0.1354 0.0976 0.14 0.086 0.17 0.043 0.12 rs10427348 COSM3758106 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1304 0.0769 0.0742 0.1001 0.0079 0.1725 0.1717 0.1344 0.1000 0.1332 0.0845 0.0859 0.0861 0.0031 0.1717 0.1697 0.1448 het 1263.95 97 2 241451350 . C T 1263.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.826;DP=97;Dels=0.00;FS=1.654;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=1.224;QD=13.03;ReadPosRankSum=-0.776;VQSLOD=5.6782;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,47:97:99:1294,0,1263 2 241468875 241468875 C T exonic ANKMY1 nonsynonymous SNV ANKMY1:NM_016552:exon4:c.G265A:p.D89N,ANKMY1:NM_001282771:exon5:c.G532A:p.D178N 0.0094 0.0015 0.014 . 0.027 0.0082 0.0186 0.0034 0.0082 0.0001 0.0367 0.0261 0.0183 0.0079 0.02 0.0041 0.028 0.043 0.041 rs35278753 . . . . . . . . . . . . . 0.126 0.299 T 0.999 0.764 D 0.909 0.628 D 0.000 0.523 D 0.999 0.810 D 2.18 0.615 M 0.31 0.586 T -3.12 0.709 D 0.069 0.080 -0.912 0.466 T 0.099 0.369 T . . . 5.149 0.694 25.4 0.998 0.907 0.944 0.608 D c 0.246 0.283 0.985 0.308 0.651 0.465 0 4.91 0.638 5.924 0.696 0.852 0.362 1.000 0.715 0.097 0.188 15.944 0.795 . . . 0.0186 0.0035 0.0089 0.0174 5.798e-05 0.0323 0.0269 0.0199 0.0070 0.0243 0.0060 0.0143 0.0099 0 0.0364 0.0360 0.0183 het 599.64 53 2 241468875 . C T 599.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.029;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.56;MQ0=0;MQRankSum=0.633;QD=11.31;ReadPosRankSum=0.193;VQSLOD=6.5455;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,25:53:99:630,0,647 2 241531479 241531479 A G exonic CAPN10 synonymous SNV CAPN10:NM_023083:exon4:c.A600G:p.P200P,CAPN10:NM_023085:exon4:c.A600G:p.P200P 0.12 0.029 0.13 0.097 0.16 0.21 0.1823 0.0571 0.1215 0.1196 0.2586 0.1975 0.1741 0.2295 0.12 0.052 0.16 0.098 0.041 rs3792269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1478 0.0445 0.0828 0.0916 0.0976 0.1960 0.1704 0.1506 0.1981 0.1259 0.0465 0.0919 0.0828 0.0864 0.1872 0.1623 0.1663 het 244.82 16 2 241531479 . A G 244.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.566;DP=16;Dels=0.00;FS=9.260;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.246;QD=15.30;ReadPosRankSum=1.473;VQSLOD=3.6978;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,11:16:99:275,0,137 2 241536126 241536126 A G exonic CAPN10 nonsynonymous SNV CAPN10:NM_023083:exon9:c.A1510G:p.T504A 0.12 0.029 0.13 0.093 0.16 0.21 0.1474 0.0442 0.0734 0.0981 0.1875 0.1664 0.1478 0.2195 0.12 0.046 0.16 0.076 0.049 rs7607759 . . . . . . . . . . . . . 0.824 0.031 T 0.0 0.026 B 0.0 0.013 B 0.522 0.052 N 1 0.090 P -0.77 0.017 N -2.09 0.864 D 0.45 0.036 N 0.012 0.001 -1.083 0.067 T 0.001 0.002 T . . . -2.191 0.006 0.001 0.240 0.010 0.005 0.023 N c -2.214 -2.141 1.000 0.415 0.696 0.567 0 -3.01 0.051 -1.089 0.035 -2.779 0.002 0.000 0.063 0.000 0.016 5.082 0.139 . ENSG00000142330.15|ENSG00000178623.7|ENSG00000178623.7|ENSG00000178623.7|ENSG00000142330.15|ENSG00000178623.7|ENSG00000178623.7|ENSG00000178623.7|ENSG00000178623.7|ENSG00000142330.15|ENSG00000178623.7|ENSG00000178623.7|ENSG00000142330.15|ENSG00000178623.7|ENSG00000142330.15|ENSG00000142330.15|ENSG00000178623.7|ENSG00000142330.15|ENSG00000142330.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Whole_Blood 0.1437 0.0436 0.0792 0.0903 0.0965 0.1911 0.1681 0.1510 0.1959 0.1263 0.0467 0.0919 0.0828 0.0875 0.1874 0.1626 0.1667 het 345.12 42 2 241536126 . A G 345.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.220;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4671;MQ=59.56;MQ0=0;MQRankSum=0.395;QD=8.22;ReadPosRankSum=0.483;VQSLOD=5.9079;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,14:42:99:375,0,687 2 241537421 241537421 G A exonic CAPN10 synonymous SNV CAPN10:NM_023085:exon8:c.G1395A:p.A465A,CAPN10:NM_023083:exon10:c.G1860A:p.A620A 0.51 0.29 0.56 0.65 0.61 0.54 0.5811 0.3129 0.6065 0.6594 0.5471 0.6154 0.5740 0.5643 0.52 0.32 0.62 0.53 0.65 rs3749166 COSM4133668;COSM4133667 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5833 0.3067 0.6071 0.5989 0.6596 0.5434 0.6126 0.5781 0.5695 0.5285 0.3211 0.5892 0.5894 0.6815 0.5611 0.6177 0.5729 het 1111.02 89 2 241537421 . G A 1111.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.156;DP=89;Dels=0.00;FS=0.978;HRun=0;HaplotypeScore=4.8266;MQ=59.74;MQ0=0;MQRankSum=-0.823;QD=12.48;ReadPosRankSum=0.459;VQSLOD=5.0012;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,39:89:99:1141,0,1228 2 241569692 241569692 C T exonic GPR35 nonsynonymous SNV GPR35:NM_005301:exon2:c.C323T:p.T108M,GPR35:NM_001195381:exon6:c.C416T:p.T139M,GPR35:NM_001195382:exon6:c.C416T:p.T139M 0.15 0.22 0.13 0.086 0.17 0.12 0.1754 0.2309 0.1277 0.0836 0.2479 0.1888 0.1574 0.1265 0.19 0.23 0.17 0.16 0.15 rs3749171 COSM5829442;COSM3758109 2(large_intestine) . . . . . Inflammatory bowel disease 1.14 . 23128233 rs3749171 3E-21 0.18 0.219 T 0.984 0.588 D 0.477 0.452 P 0.273 0.151 N 1 0.090 P 1.465 0.370 L -0.8 0.739 T -3.34 0.663 D 0.043 0.083 -0.774 0.567 T 0.000 0.001 T . . . 1.012 0.191 10.73 0.989 0.475 0.059 0.117 N c -0.971 -1.263 1.000 0.473 0.517 0.208 0 -7.41 0.012 -0.797 0.046 -0.481 0.053 0.000 0.063 0.011 0.114 18.033 0.892 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1638 0.2253 0.1255 0.1248 0.0824 0.2512 0.1849 0.1555 0.1176 0.1958 0.2192 0.1169 0.1192 0.0716 0.2354 0.1922 0.2002 hom 1798.39 55 2 241569692 . C T 1798.39 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=32.70;VQSLOD=9.2020;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1831,147,0 2 241621800 241621800 C - exonic AQP12B frameshift deletion AQP12B:NM_001102467:exon1:c.455delG:p.S152Tfs*23 0.23 0.26 0.19 0.36 0.14 0.19 0.3201 0.4122 0.3393 0.4516 0.3410 0.2864 0.3919 0.2675 0.2 0.29 0.15 . . rs201917032 COSM111410 1(ovary);1(oesophagus);1(thyroid);2(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1709 0.2525 0.2123 0.1763 0.3293 0.1270 0.1218 0.1791 0.1624 0.1651 0.2334 0.1780 0.1345 0.3384 0.1179 0.1173 0.1573 het 449.26 33 2 241621799 . GC G 449.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.807;DP=33;FS=7.949;HRun=1;HaplotypeScore=76.7649;MQ=20.60;MQ0=68;MQRankSum=-1.330;QD=4.45;ReadPosRankSum=-1.184;set=variant2 GT:AD:DP:GQ:PL 0/1:69,32:33:99:488,0,790 2 241713646 241713646 A G exonic KIF1A synonymous SNV KIF1A:NM_001244008:exon12:c.T991C:p.L331L,KIF1A:NM_001320705:exon12:c.T991C:p.L331L,KIF1A:NM_001330289:exon12:c.T991C:p.L331L,KIF1A:NM_001330290:exon12:c.T991C:p.L331L,KIF1A:NM_004321:exon12:c.T991C:p.L331L 0.51 0.74 0.36 0.62 0.36 0.35 0.3862 0.6767 0.2989 0.5868 0.3255 0.3545 0.3792 0.3217 0.45 0.65 0.35 0.65 . rs1063353 COSM4419545;COSM4419544 1(haematopoietic_and_lymphoid_tissue) other|Likely benign|Likely benign|Likely benign not_specified|Hereditary_sensory_and_autonomic_neuropathy_type_II|Spastic_Paraplegia\x2c_Recessive|Intellectual_Disability\x2c_Dominant RCV000117403.3|RCV000299654.1|RCV000356803.1|RCV000401209.1 MedGen|MedGen|MedGen|MedGen CN169374|C0020072|CN239433|CN239282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3736 0.6827 0.3046 0.3072 0.5894 0.3205 0.3507 0.3756 0.3168 0.4507 0.6792 0.3186 0.2748 0.5928 0.3248 0.3487 0.3585 het 1310.40 108 2 241713646 . A G 1310.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.698;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.8544;MQ=58.51;MQ0=0;MQRankSum=1.187;QD=12.13;ReadPosRankSum=2.203;VQSLOD=4.5691;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,54:108:99:1340,0,1376 2 241808314 241808314 C T exonic AGXT nonsynonymous SNV AGXT:NM_000030:exon1:c.C32T:p.P11L 0.081 0.036 0.13 . 0.2 0.061 0.1545 0.0675 0.0761 0.0004 0.2546 0.2127 0.1614 0.0718 0.16 0.061 0.2 0.087 0.14 rs34116584 COSM3766554 7(soft_tissue);1(liver) Uncertain significance\x2cPathogenic\x2cother|Benign|Likely benign Primary_hyperoxaluria\x2c_type_I\x2cPrimary_hyperoxaluria\x2c_type_I\x2cPrimary_hyperoxaluria\x2c_type_I|not_specified|Primary_hyperoxaluria RCV000186220.1\x2cRCV000186275.1\x2cRCV000005995.7|RCV000173049.2|RCV000290977.1 MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0268164:259900:ORPHA93598:65520001\x2cC0268164:259900:ORPHA93598:65520001\x2cC0268164:259900:ORPHA93598:65520001|CN169374|C0020501:ORPHA416:17901006 . . . . . . 0.015 0.524 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 2.515 0.735 M -2.36 0.882 D -8.95 0.980 D 0.523 0.564 -1.138 0.014 T 0.003 0.009 T . . . 5.139 0.693 25.4 0.998 0.906 0.968 0.711 D c 0.415 0.250 1.000 0.747 0.497 0.185 0 4.42 0.526 6.621 0.739 0.807 0.329 0.998 0.411 0.011 0.114 11.635 0.503 Pyridoxal phosphate-dependent transferase ENSG00000172482.4|ENSG00000172482.4|ENSG00000172482.4 Adrenal_Gland|Colon_Transverse|Prostate 0.1480 0.0599 0.0801 0.1848 0.0003 0.2438 0.2022 0.1676 0.0724 0.1522 0.0623 0.1017 0.1656 0.0012 0.2294 0.2036 0.1837 het 578.23 42 2 241808314 . C T 578.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.448;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.139;QD=13.77;ReadPosRankSum=1.322;VQSLOD=11.1962;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,22:42:99:608,0,548 2 241808685 241808685 C T exonic AGXT synonymous SNV AGXT:NM_000030:exon2:c.C264T:p.A88A 0.081 0.036 0.13 . 0.21 0.061 0.1498 0.0632 0.0741 0.0003 0.2430 0.2065 0.1523 0.0696 0.16 0.062 0.2 0.11 0.19 rs35698882 . . Uncertain significance|Benign|Likely benign Primary_hyperoxaluria\x2c_type_I|not_specified|Primary_hyperoxaluria RCV000186234.1|RCV000251471.1|RCV000351918.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0268164:259900:ORPHA93598:65520001|CN169374|C0020501:ORPHA416:17901006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1489 0.0603 0.0804 0.1834 0.0003 0.2436 0.2028 0.1681 0.0727 0.1527 0.0623 0.1029 0.1633 0.0012 0.2291 0.2045 0.1833 het 2037.82 140 2 241808685 . C T 2037.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.473;DP=140;Dels=0.00;FS=2.373;HRun=0;HaplotypeScore=2.9873;MQ=58.74;MQ0=0;MQRankSum=0.676;QD=14.56;ReadPosRankSum=0.751;VQSLOD=5.8115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,73:140:99:2068,0,1610 2 241817516 241817516 A G exonic AGXT nonsynonymous SNV AGXT:NM_000030:exon10:c.A1020G:p.I340M 0.11 0.036 0.16 0.088 0.2 0.11 0.1653 0.0648 0.0993 0.0860 0.2511 0.2104 0.1652 0.1004 0.16 0.064 0.21 0.12 0.2 rs4426527 COSM4986441 8(soft_tissue) other|Benign|Likely benign Primary_hyperoxaluria\x2c_type_I|not_specified|Primary_hyperoxaluria RCV000032682.7|RCV000247828.2|RCV000389779.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0268164:259900:ORPHA93598:65520001|CN169374|C0020501:ORPHA416:17901006 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.194 P -2.185 0.001 N -2.16 0.866 D 3.24 0.001 N 0.149 0.245 -1.061 0.115 T 0.000 0.000 T . . . -2.028 0.008 0.001 0.091 0.001 0.049 0.105 N c -1.634 -1.446 1.000 0.480 0.517 0.208 0 2.21 0.269 2.931 0.484 -1.718 0.007 1.000 0.715 0.001 0.043 8.273 0.308 Aminotransferase class V domain|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 ENSG00000172482.4|ENSG00000172482.4 Adrenal_Gland|Colon_Transverse 0.1647 0.0616 0.1057 0.1964 0.0863 0.2493 0.2059 0.1778 0.1026 0.1608 0.0640 0.1364 0.1733 0.0815 0.2344 0.2077 0.1926 het 1165.66 87 2 241817516 . A G 1165.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.457;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7785;MQ=59.57;MQ0=0;MQRankSum=0.336;QD=13.40;ReadPosRankSum=0.353;VQSLOD=6.2932;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,41:87:99:1196,0,1141 2 241828034 241828034 A G exonic C2orf54 nonsynonymous SNV C2orf54:NM_001085437:exon4:c.T926C:p.L309P,C2orf54:NM_001282921:exon4:c.T479C:p.L160P,C2orf54:NM_024861:exon4:c.T422C:p.L141P 0.99 1. 0.99 1. 0.99 0.96 0.9795 0.9921 0.9891 0.9952 0.9848 0.9800 0.9767 0.9535 0.99 1. 0.98 0.13 0.77 rs6707568 COSM4133696;COSM4133697 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.513 N 0.081 0.366 P -2.6 0.000 N 3.59 0.046 T 8.45 0.000 N 0.076 0.067 -0.902 0.478 T 0.000 0.000 T . . . -0.346 0.065 0.519 0.626 0.068 0.017 0.053 N c -0.907 -0.702 1.000 0.401 0.649 0.455 0 4.19 0.485 2.893 0.481 0.026 0.148 0.998 0.411 0.023 0.138 10.464 0.436 Mab-21 domain . . 0.9861 0.9976 0.9938 0.9956 0.9998 0.9958 0.9840 0.9879 0.9619 0.9912 0.9964 0.9916 0.9934 1 0.9968 0.9860 0.9887 hom 481.77 18 2 241828034 . A G 481.77 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=26.77;VQSLOD=7.8705;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:39.13:515,39,0 2 242129487 242129487 G T exonic ANO7 synonymous SNV ANO7:NM_001001666:exon2:c.G171T:p.R57R,ANO7:NM_001001891:exon2:c.G171T:p.R57R 0.15 0.097 0.19 0.021 0.31 0.16 0.3071 0.1710 0.3393 0.0600 0.4648 0.3924 0.3116 0.1893 0.22 0.13 0.27 0.16 0.057 rs11695874 COSM3758125;COSM3758124;COSM3758123 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2155 0.1172 0.1725 0.2137 0.0210 0.2894 0.2739 0.2478 0.1669 0.2246 0.1297 0.1966 0.2318 0.0229 0.2877 0.2874 0.2428 het 206.89 10 2 242129487 . G T 206.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.741;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.393;QD=20.69;ReadPosRankSum=-0.348;VQSLOD=12.7680;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:1,9:10:13.72:237,0,14 2 242141719 242141719 C T exonic ANO7 synonymous SNV ANO7:NM_001001891:exon8:c.C885T:p.D295D 0.41 0.48 0.51 0.079 0.68 0.33 0.5546 0.5105 0.3858 0.0707 0.6633 0.6869 0.5787 0.3762 0.64 0.53 0.69 0.39 0.68 rs2074840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5529 0.5075 0.4077 0.6497 0.0719 0.6591 0.6919 0.6001 0.3862 0.5939 0.5113 0.4916 0.6258 0.0727 0.6597 0.6876 0.6051 het 885.36 90 2 242141719 . C T 885.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.370;DP=90;Dels=0.00;FS=4.706;HRun=0;HaplotypeScore=1.8660;MQ=59.38;MQ0=0;MQRankSum=-0.476;QD=9.84;ReadPosRankSum=-0.918;VQSLOD=5.7091;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,37:90:99:915,0,1280 2 242149010 242149010 C T exonic ANO7 nonsynonymous SNV ANO7:NM_001001891:exon13:c.C1481T:p.A494V 0.12 0.1 0.16 0.016 0.26 0.1 0.2022 0.1222 0.1511 0.0145 0.2496 0.2629 0.2243 0.1073 0.21 0.13 0.26 0.17 0.18 rs57677160 COSM3758127;COSM3758126 1(pancreas);2(large_intestine) . . . . . . . . . . . 0.75 0.036 T 0.0 0.026 B 0.002 0.063 B 0.000 0.005 N 1 0.090 P 0 0.065 N -0.02 0.629 T 0.38 0.036 N 0.022 0.005 -1.081 0.071 T 0.000 0.000 T . . . 0.712 0.162 8.904 0.931 0.221 0.004 0.018 N c -1.205 -1.198 1.000 0.413 0.487 0.133 0 -0.242 0.123 2.461 0.445 -0.078 0.119 0.035 0.205 0.003 0.074 7.185 0.248 . ENSG00000168385.13|ENSG00000168385.13 Muscle_Skeletal|Thyroid 0.1912 0.1166 0.1572 0.1734 0.0151 0.2340 0.2582 0.2200 0.0982 0.2013 0.1182 0.1826 0.2020 0.0185 0.2258 0.2633 0.2230 het 564.13 37 2 242149010 . C T 564.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.077;DP=37;Dels=0.00;FS=1.421;HRun=0;HaplotypeScore=0.9734;MQ=58.62;MQ0=0;MQRankSum=1.150;QD=15.25;ReadPosRankSum=0.199;VQSLOD=5.7046;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,21:37:99:594,0,394 2 242157241 242157241 G A exonic ANO7 nonsynonymous SNV ANO7:NM_001001891:exon20:c.G2275A:p.A759T 0.11 0.017 0.18 0.11 0.17 0.13 0.1625 0.0521 0.1524 0.1181 0.1744 0.1871 0.1748 0.1506 0.13 0.049 0.17 0.043 0.15 rs76832527 . . . . . . . . . . . . . 0.028 0.461 D 0.759 0.415 P 0.272 0.382 B 0.001 0.426 N 0.000 0.482 P 1.945 0.524 M -0.25 0.670 T -3.49 0.680 D 0.121 0.330 -1.011 0.265 T 0.001 0.003 T . . . 6.726 0.919 32 0.998 0.882 0.885 0.482 D c 0.242 0.237 1.0 0.983 0.437 0.062 0 2.84 0.321 8.616 0.906 0.800 0.324 1.000 0.715 0.994 0.587 13.564 0.611 . ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9|ENSG00000146205.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.1481 0.0411 0.1450 0.1533 0.1051 0.1292 0.1753 0.1549 0.1398 0.1211 0.0422 0.1411 0.1216 0.1081 0.1224 0.1659 0.1373 het 353.82 38 2 242157241 . G A 353.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.172;DP=38;Dels=0.00;FS=3.012;HRun=0;HaplotypeScore=3.5629;MQ=59.01;MQ0=0;MQRankSum=1.394;QD=9.31;ReadPosRankSum=0.602;VQSLOD=4.9947;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,18:38:99:384,0,504 2 242203916 242203916 A C exonic HDLBP nonsynonymous SNV HDLBP:NM_001320965:exon4:c.T181G:p.S61A,HDLBP:NM_001320966:exon4:c.T181G:p.S61A,HDLBP:NM_001320967:exon4:c.T181G:p.S61A,HDLBP:NM_005336:exon4:c.T181G:p.S61A,HDLBP:NM_203346:exon4:c.T181G:p.S61A,HDLBP:NM_001243900:exon5:c.T289G:p.S97A 1. 1. 1. 1. 1. 1. 0.9998 0.9998 1 0.9994 1 0.9998 0.9989 1 . . . 0.97 1. rs11891776 COSM4591716;COSM4591715 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9999 1 1 0.9994 1 0.9999 1 0.9998 0.9999 1 1 1 0.9988 1 1 1 hom 7759.92 249 2 242203916 . A C 7759.92 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9150;MQ=59.27;MQ0=0;QD=31.16;VQSLOD=8.8190;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7723,599,0 2 242371101 242371101 C T exonic FARP2 nonsynonymous SNV FARP2:NM_001282983:exon9:c.C779T:p.T260I,FARP2:NM_001282984:exon9:c.C779T:p.T260I,FARP2:NM_014808:exon9:c.C779T:p.T260I 0.081 0.11 0.081 0.024 0.097 0.084 0.0931 0.1016 0.1016 0.0179 0.0703 0.1063 0.0980 0.0768 0.11 0.097 0.11 0.087 0.074 rs757978 . . . . . . . Chronic lymphocytic leukemia 1.46 . 22700719 rs757978 3E-6 0.002 0.784 D 1.0 0.899 D 0.999 0.971 D 0.000 0.537 D 0.000 0.588 P 1.695 0.435 L -2.22 0.871 D -5.29 0.860 D 0.266 0.537 -0.625 0.638 T 0.057 0.241 T . . . 5.185 0.700 25.5 0.998 0.864 0.992 0.928 D c 0.596 0.588 1.000 0.747 0.707 0.730 0 4.79 0.608 5.994 0.701 0.922 0.432 1.000 0.715 1.000 0.888 18.256 0.899 FERM domain|FERM\x2c C-terminal PH-like domain|PH domain-like ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Whole_Blood 0.0933 0.1015 0.0996 0.1480 0.0180 0.0731 0.1048 0.1010 0.0776 0.1005 0.1031 0.1142 0.1589 0.0167 0.0704 0.1124 0.1096 het 1609.40 138 2 242371101 . C T 1609.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.697;DP=138;Dels=0.00;FS=6.463;HRun=0;HaplotypeScore=2.6538;MQ=59.73;MQ0=0;MQRankSum=1.247;QD=11.66;ReadPosRankSum=-0.701;VQSLOD=4.9446;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,66:138:99:1639,0,1955 2 242407588 242407588 G A exonic FARP2 nonsynonymous SNV FARP2:NM_014808:exon18:c.G1927A:p.V643I 0.084 0.094 0.089 0.026 0.12 0.096 0.1034 0.0873 0.1089 0.0178 0.0614 0.1232 0.1013 0.0918 0.12 0.085 0.13 0.076 0.074 rs41342147 . . . . . . . . . . . . . 0.357 0.120 T 0.999 0.764 D 0.997 0.850 D 0.000 0.843 D 0.000 0.588 P 1.36 0.342 L -0.04 0.633 T -0.59 0.176 N 0.189 0.231 -1.052 0.139 T 0.005 0.016 T . . . 5.235 0.707 25.6 0.998 0.905 0.985 0.835 D c 0.561 0.585 1.000 0.747 0.615 0.372 0 4.96 0.650 9.220 0.943 0.953 0.551 1.000 0.715 0.586 0.286 18.238 0.898 Dbl homology (DH) domain ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000168385.13|ENSG00000223374.1|ENSG00000168385.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.1055 0.0863 0.1118 0.1786 0.0178 0.0656 0.1239 0.1148 0.0943 0.1023 0.0870 0.1253 0.1887 0.0160 0.0599 0.1269 0.1102 het 4062.12 230 2 242407588 . G A 4062.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.873;DP=230;DS;Dels=0.00;FS=2.366;HRun=0;HaplotypeScore=4.0482;MQ=59.49;MQ0=0;MQRankSum=0.824;QD=17.66;ReadPosRankSum=0.442;VQSLOD=5.5232;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:105,125:230:99:3444,0,2947 2 242572846 242572846 A G exonic THAP4 synonymous SNV THAP4:NM_015963:exon2:c.T726C:p.S242S 0.43 0.41 0.34 0.57 0.32 0.48 0.3411 0.3841 0.2988 0.5725 0.2267 0.2985 0.3355 0.4411 0.33 0.37 0.3 0.52 0.28 rs3208142 COSM5414603 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3377 0.3880 0.3034 0.3765 0.5709 0.2193 0.2972 0.3209 0.4425 0.3277 0.3806 0.2995 0.3826 0.5948 0.2312 0.2932 0.2965 het 1603.73 95 2 242572846 . A G 1603.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.064;DP=95;Dels=0.00;FS=6.993;HRun=1;HaplotypeScore=1.7608;MQ=59.51;MQ0=0;MQRankSum=0.377;QD=16.88;ReadPosRankSum=-0.675;VQSLOD=4.5521;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,51:95:99:1634,0,1208 2 242573211 242573211 T C exonic THAP4 nonsynonymous SNV THAP4:NM_015963:exon2:c.A361G:p.S121G 0.61 0.53 0.59 0.89 0.46 0.61 0.5362 0.5131 0.6663 0.8975 0.5322 0.4651 0.5155 0.5600 0.47 0.51 0.45 0.58 0.38 rs7424328 COSM3758134 1(kidney);2(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.247 0.036 N 1 0.090 P -1.5 0.005 N -3.78 0.956 D -0.2 0.102 N 0.012 0.001 -0.992 0.321 T 0.000 0.000 T . . . -2.504 0.003 0.001 0.295 0.016 0.031 0.079 N c -1.813 -1.764 1.000 0.489 0.707 0.730 0 -1.86 0.073 -0.637 0.055 -1.543 0.010 0.000 0.063 0.000 0.016 5.945 0.183 . . . 0.5403 0.5076 0.6538 0.4287 0.9022 0.5377 0.4612 0.4951 0.5623 0.5242 0.5144 0.5907 0.3576 0.8937 0.5186 0.4903 0.5326 hom 5203.94 159 2 242573211 . T C 5203.94 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.359;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5102;MQ=59.56;MQ0=0;MQRankSum=1.514;QD=32.73;ReadPosRankSum=0.316;VQSLOD=8.3053;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,158:159:99:5165,383,0 2 242610738 242610738 T C exonic ATG4B synonymous SNV ATG4B:NM_013325:exon12:c.T1026C:p.L342L,ATG4B:NM_178326:exon12:c.T1026C:p.L342L 0.21 0.079 0.21 0.3 0.23 0.25 0.2465 0.1104 0.2863 0.3004 0.3169 0.2415 0.2248 0.2598 0.18 0.097 0.22 0.18 . rs11538896 COSM3773962;COSM3773961 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2367 0.0958 0.2602 0.2103 0.2889 0.3046 0.2282 0.2331 0.2416 0.1991 0.1001 0.2542 0.1987 0.2668 0.2961 0.2228 0.2128 het 347.01 28 2 242610738 . T C 347.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.092;DP=28;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.9894;MQ=59.17;MQ0=0;MQRankSum=-0.691;QD=12.39;ReadPosRankSum=1.198;VQSLOD=5.0371;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:377,0,425 2 242610773 242610773 T A exonic ATG4B nonsynonymous SNV ATG4B:NM_013325:exon12:c.T1061A:p.L354Q,ATG4B:NM_178326:exon12:c.T1061A:p.L354Q 0.88 0.96 0.87 0.87 0.81 0.87 0.8153 0.9340 0.8596 0.8446 0.7913 0.7831 0.7998 0.8383 0.83 0.93 0.79 0.83 . rs7601000 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.000 0.469 N 0.936 0.269 P -0.895 0.014 N 1.05 0.405 T 2.87 0.002 N 0.024 0.374 -1.002 0.294 T 0.000 0.000 T . . . 1.742 0.270 14.65 0.885 0.174 0.182 0.200 N c -0.857 -0.601 0.090 0.161 0.707 0.730 0 2.7 0.309 1.664 0.368 0.165 0.245 1.000 0.715 0.998 0.697 5.721 0.171 . ENSG00000176720.3|ENSG00000235351.1|ENSG00000235351.1|ENSG00000235351.1|ENSG00000168395.10|ENSG00000168395.10|ENSG00000168393.8|ENSG00000235351.1|ENSG00000168395.10|ENSG00000235351.1|ENSG00000168395.10 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Testis|Thyroid|Thyroid 0.8153 0.9373 0.8563 0.8474 0.8435 0.7819 0.7790 0.8128 0.8399 0.8247 0.9335 0.8449 0.8467 0.8525 0.7904 0.7681 0.7704 het 291.99 30 2 242610773 . T A 291.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.596;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=60.00;MQ0=0;MQRankSum=-1.101;QD=9.73;ReadPosRankSum=-0.337;VQSLOD=5.1036;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,11:30:99:322,0,571 2 242757820 242757820 G A exonic NEU4 nonsynonymous SNV NEU4:NM_001167599:exon4:c.G940A:p.G314R,NEU4:NM_001167600:exon4:c.G901A:p.G301R,NEU4:NM_001167601:exon4:c.G901A:p.G301R,NEU4:NM_080741:exon4:c.G937A:p.G313R,NEU4:NM_001167602:exon5:c.G901A:p.G301R 0.24 0.3 0.22 0.1 0.28 0.29 0.2851 0.3419 0.1722 0.0886 0.3008 0.3093 0.2763 0.3363 0.28 0.28 0.28 0.29 0.14 rs11545301 COSM3758139 1(large_intestine) . . . . . . . . . . . 0.791 0.067 T 0.0 0.067 B 0.0 0.040 B 0.283 0.038 N 1 0.090 P -0.3 0.036 N -0.92 0.752 T 0.35 0.038 N 0.029 0.026 -1.102 0.038 T 0.000 0.000 T . . . -0.658 0.047 0.090 0.695 0.087 0.037 0.088 N c -1.530 -1.589 0.794 0.240 0.554 0.283 0 -3.25 0.047 -0.590 0.058 -0.032 0.126 0.000 0.063 0.000 0.016 5.018 0.136 . ENSG00000204099.7|ENSG00000224272.2|ENSG00000204099.7|ENSG00000224272.2 Muscle_Skeletal|Muscle_Skeletal|Thyroid|Thyroid 0.2527 0.2986 0.1660 0.3046 0.0789 0.2487 0.2826 0.2623 0.3117 0.2560 0.2850 0.1587 0.3212 0.0773 0.2443 0.2656 0.2541 hom 654.28 27 2 242757820 . G A 654.28 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.14;MQ0=0;QD=24.23;VQSLOD=6.1990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:51.16:687,51,0 2 242793273 242793273 A G exonic PDCD1 synonymous SNV PDCD1:NM_005018:exon5:c.T804C:p.A268A 0.65 0.55 0.63 0.73 0.6 0.76 0.6284 0.5805 0.6083 0.7245 0.7065 0.5868 0.6580 0.7550 0.59 0.59 0.58 0.7 0.5 rs2227981 COSM3758140 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6326 0.5785 0.6220 0.6163 0.7278 0.7097 0.5828 0.6148 0.7493 0.6047 0.5763 0.6124 0.5894 0.7311 0.7071 0.5808 0.6462 hom 974.91 34 2 242793273 . A G 974.91 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4673;MQ=60.00;MQ0=0;QD=28.67;VQSLOD=7.5551;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:34:81.24:1008,81,0 3 361508 361508 C T exonic CHL1 nonsynonymous SNV CHL1:NM_001253388:exon1:c.C49T:p.L17F,CHL1:NM_001253387:exon3:c.C49T:p.L17F,CHL1:NM_006614:exon3:c.C49T:p.L17F 0.35 0.56 0.24 0.31 0.2 0.34 0.2697 0.5329 0.2755 0.3395 0.2377 0.2135 0.2575 0.2994 0.31 0.52 0.2 0.36 0.22 rs2272522 COSM149325 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(large_intestine) . . . . . . . . . . . 1.0 0.027 T 0.0 0.067 B 0.001 0.080 B 0.099 0.199 N 1 0.090 P 0 0.065 N 0.16 0.656 T 1.03 0.127 N 0.32 0.392 -0.975 0.360 T 0.000 0.000 T . . . -1.477 0.017 0.003 0.115 0.002 0.018 0.056 N c -1.572 -1.516 0.000 0.012 0.487 0.133 0 -2.03 0.069 -0.142 0.102 -1.145 0.017 0.581 0.274 0.330 0.242 10.765 0.453 . . . 0.2539 0.5261 0.2581 0.2134 0.3348 0.2317 0.2030 0.2461 0.2858 0.3090 0.5128 0.2404 0.2384 0.3441 0.2347 0.2125 0.2562 het 363 20 3 361508 . C T 363 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.960;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9857;MQ=56.58;MQ0=0;MQRankSum=-1.222;QD=18.15;ReadPosRankSum=0.349;VQSLOD=2.8751;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,15:20:99:393,0,116 3 391100 391100 A G exonic CHL1 nonsynonymous SNV CHL1:NM_001253388:exon8:c.A907G:p.T303A,CHL1:NM_001253387:exon9:c.A859G:p.T287A,CHL1:NM_006614:exon10:c.A907G:p.T303A 0.85 0.46 0.95 1. 1. 1. 0.9546 0.5122 0.9749 1 0.9998 0.9983 0.9835 0.9990 0.84 0.52 1. 0.78 0.96 rs13060847 . . . . . . . . . . . . . 0.87 0.036 T 0.095 0.239 B 0.105 0.295 B 0.078 0.211 N 1.000 0.090 P 1.2 0.304 L -0.21 0.663 T -0.98 0.260 N 0.032 0.013 -0.915 0.463 T 0.000 0.000 T . . . 0.735 0.164 9.052 0.811 0.130 0.096 0.151 N c -0.401 -0.306 0.000 0.029 0.487 0.133 0 4.05 0.462 1.189 0.315 1.199 0.960 0.032 0.204 0.862 0.360 5.628 0.167 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9638 0.5003 0.9740 0.9990 1 0.9999 0.9980 0.9765 0.9989 0.8597 0.5094 0.9678 1 1 1 0.9983 0.9756 hom 2757.01 86 3 391100 . A G 2757.01 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;QD=32.06;VQSLOD=8.8602;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2790,217,0 3 436384 436384 A T exonic CHL1 nonsynonymous SNV CHL1:NM_001253388:exon22:c.A2923T:p.T975S,CHL1:NM_001253387:exon23:c.A2875T:p.T959S,CHL1:NM_006614:exon24:c.A2923T:p.T975S 0.003 0.0008 0.0058 . 0.0099 . 0.0062 0.0018 0.0052 0 0.0026 0.0094 0.0011 0.0013 0.0088 0.0027 0.012 0.011 0.0082 rs145162591 . . . . . . . . . . . . . 0.082 0.388 T 0.609 0.377 P 0.565 0.479 P 0.000 0.843 D 1.000 0.588 D 1.205 0.305 L 0.44 0.566 T -2.51 0.545 D 0.056 0.305 -0.843 0.525 T 0.157 0.490 T . . . 4.499 0.602 24.3 0.992 0.537 0.989 0.887 D c 0.344 0.454 1.000 0.747 0.487 0.133 0 5.47 0.803 8.201 0.896 1.140 0.893 1.000 0.715 0.997 0.653 15.509 0.754 Fibronectin type III|Immunoglobulin-like fold . . 0.0065 0.0018 0.0055 0.0095 0 0.0032 0.0103 0.0075 0.0011 0.0061 0.0025 0.0060 0.0199 0 0.0023 0.0095 0.0051 het 272.87 43 3 436384 . A T 272.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.076;DP=43;Dels=0.00;FS=5.159;HRun=0;HaplotypeScore=0.8941;MQ=59.57;MQ0=0;MQRankSum=0.621;QD=6.35;ReadPosRankSum=-1.626;VQSLOD=2.6294;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,13:43:99:303,0,761 3 439963 439963 A G exonic CHL1 nonsynonymous SNV CHL1:NM_001253387:exon24:c.A3100G:p.I1034V,CHL1:NM_006614:exon25:c.A3148G:p.I1050V 0.96 0.85 0.98 1. 1. 1. 0.9883 0.8749 0.9935 1 1 0.9995 0.9945 0.9995 0.96 0.88 1. 0.91 0.98 rs6442827 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.080 B 0.949 0.076 N 1.000 0.090 P 0.455 0.128 N 0.22 0.599 T -0.11 0.087 N 0.018 0.003 -0.995 0.313 T 0.000 0.000 T . . . -0.335 0.066 0.552 0.557 0.053 0.151 0.185 N c -1.280 -1.203 0.000 0.038 0.554 0.246 0 -4.87 0.029 0.900 0.279 -0.462 0.055 0.581 0.274 0.898 0.379 8.232 0.306 . . . 0.9906 0.8713 0.9930 0.9995 1 1 0.9994 0.9930 0.9996 0.9620 0.8671 0.9928 1 1 1 0.9995 0.9980 hom 2092.59 71 3 439963 . A G 2092.59 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=58.19;MQ0=0;QD=29.47;VQSLOD=8.4779;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2126,160,0 3 440028 440028 T C exonic CHL1 synonymous SNV CHL1:NM_001253387:exon24:c.T3165C:p.N1055N,CHL1:NM_006614:exon25:c.T3213C:p.N1071N 0.97 0.89 0.99 1. 1. 1. 0.9917 0.9108 0.9954 1 1 0.9998 0.9945 0.9995 0.97 0.92 1. 0.91 1. rs6771714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9933 0.9062 0.9957 1 1 1 0.9998 0.9954 0.9996 0.9725 0.9033 0.9964 1 1 1 0.9997 0.9980 hom 2907.03 101 3 440028 . T C 2907.03 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.52;MQ0=0;QD=28.78;VQSLOD=8.6261;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:101:99:2940,229,0 3 1262474 1262474 T C exonic CNTN6 synonymous SNV CNTN6:NM_001289080:exon3:c.T159C:p.N53N,CNTN6:NM_001349356:exon3:c.T159C:p.N53N,CNTN6:NM_001349357:exon3:c.T159C:p.N53N,CNTN6:NM_014461:exon3:c.T159C:p.N53N,CNTN6:NM_001349352:exon4:c.T159C:p.N53N,CNTN6:NM_001349353:exon4:c.T159C:p.N53N,CNTN6:NM_001349354:exon4:c.T159C:p.N53N,CNTN6:NM_001349355:exon4:c.T159C:p.N53N,CNTN6:NM_001349350:exon5:c.T159C:p.N53N,CNTN6:NM_001349351:exon5:c.T159C:p.N53N,CNTN6:NM_001349358:exon5:c.T159C:p.N53N 0.47 0.47 0.48 0.51 0.34 0.56 0.4082 0.4436 0.4813 0.4975 0.3620 0.3542 0.4009 0.5256 0.38 0.44 0.35 0.4 0.36 rs2013828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4090 0.4436 0.4715 0.3629 0.5094 0.3607 0.3529 0.4011 0.5238 0.3921 0.4382 0.4651 0.4073 0.5160 0.3899 0.3485 0.3839 het 1158.13 106 3 1262474 . T C 1158.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.015;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9740;MQ=59.43;MQ0=0;MQRankSum=0.352;QD=10.93;ReadPosRankSum=1.507;VQSLOD=6.2630;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,48:106:99:1188,0,1573 3 1424850 1424850 T G exonic CNTN6 synonymous SNV CNTN6:NM_001349357:exon16:c.T2079G:p.S693S,CNTN6:NM_001349358:exon16:c.T1836G:p.S612S,CNTN6:NM_001349359:exon16:c.T1269G:p.S423S,CNTN6:NM_001349360:exon16:c.T1269G:p.S423S,CNTN6:NM_001289081:exon17:c.T2175G:p.S725S,CNTN6:NM_001349356:exon17:c.T2283G:p.S761S,CNTN6:NM_001349362:exon17:c.T1269G:p.S423S,CNTN6:NM_001289080:exon18:c.T2391G:p.S797S,CNTN6:NM_014461:exon18:c.T2391G:p.S797S,CNTN6:NM_001349352:exon19:c.T2391G:p.S797S,CNTN6:NM_001349353:exon19:c.T2391G:p.S797S,CNTN6:NM_001349354:exon19:c.T2391G:p.S797S,CNTN6:NM_001349355:exon19:c.T2391G:p.S797S,CNTN6:NM_001349361:exon19:c.T1269G:p.S423S,CNTN6:NM_001349350:exon20:c.T2391G:p.S797S,CNTN6:NM_001349351:exon20:c.T2391G:p.S797S 0.26 0.039 0.28 0.35 0.39 0.35 0.3547 0.0786 0.3377 0.3563 0.5560 0.3849 0.3772 0.3357 0.28 0.092 0.37 0.23 0.37 rs2291100 COSM4157342 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3604 0.0718 0.3327 0.3424 0.3548 0.5454 0.3808 0.3580 0.3357 0.3226 0.0886 0.3182 0.3411 0.3398 0.5527 0.3968 0.4226 hom 2929.76 93 3 1424850 . T G 2929.76 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=31.50;VQSLOD=9.4582;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2963,247,0 3 3067850 3067850 A G exonic CNTN4 synonymous SNV CNTN4:NM_001206956:exon6:c.A567G:p.L189L,CNTN4:NM_175613:exon6:c.A567G:p.L189L,CNTN4:NM_001206955:exon14:c.A1551G:p.L517L,CNTN4:NM_001350095:exon15:c.A1551G:p.L517L,CNTN4:NM_175607:exon15:c.A1551G:p.L517L 0.15 0.3 0.15 0.1 0.1 0.071 0.1129 0.2883 0.1345 0.1031 0.0774 0.0956 0.1049 0.0772 0.16 0.28 0.1 0.16 0.074 rs7629924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1106 0.2898 0.1302 0.1046 0.1103 0.0754 0.0963 0.1248 0.0773 0.1392 0.2858 0.1146 0.11 0.0959 0.0698 0.0807 0.0857 hom 2182.70 66 3 3067850 . A G 2182.70 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=57.15;MQ0=0;QD=33.07;VQSLOD=6.4820;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2216,175,0 3 3067853 3067853 G A exonic CNTN4 synonymous SNV CNTN4:NM_001206956:exon6:c.G570A:p.P190P,CNTN4:NM_175613:exon6:c.G570A:p.P190P,CNTN4:NM_001206955:exon14:c.G1554A:p.P518P,CNTN4:NM_001350095:exon15:c.G1554A:p.P518P,CNTN4:NM_175607:exon15:c.G1554A:p.P518P 0.14 0.29 0.095 0.09 0.1 0.068 0.1042 0.2845 0.0620 0.0929 0.0774 0.0953 0.1038 0.0726 0.16 0.28 0.099 0.15 0.074 rs7639977 COSM3760038;COSM3760037 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1002 0.2863 0.0668 0.1045 0.0993 0.0754 0.0960 0.1155 0.0734 0.1364 0.2840 0.0621 0.11 0.0845 0.0698 0.0804 0.0827 hom 2145.80 67 3 3067853 . G A 2145.80 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.55;MQ0=0;QD=32.03;VQSLOD=8.3842;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2179,175,0 3 3076443 3076443 A G exonic CNTN4 synonymous SNV CNTN4:NM_001206956:exon8:c.A924G:p.P308P,CNTN4:NM_175613:exon8:c.A927G:p.P309P,CNTN4:NM_001206955:exon16:c.A1911G:p.P637P,CNTN4:NM_001350095:exon17:c.A1911G:p.P637P,CNTN4:NM_175607:exon17:c.A1911G:p.P637P 0.56 0.71 0.54 0.45 0.66 0.39 0.5878 0.6906 0.4798 0.4578 0.7015 0.6422 0.6256 0.3989 0.66 0.69 0.64 0.67 0.58 rs6803232 COSM1685442;COSM1685443 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5878 0.6932 0.5005 0.6411 0.4552 0.6992 0.6424 0.6157 0.4048 0.6543 0.6899 0.5540 0.7086 0.4367 0.7140 0.6499 0.6207 hom 7069.93 244 3 3076443 . A G 7069.93 Mask AC=2;AF=1.00;AN=2;DP=244;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9957;MQ=58.91;MQ0=0;QD=28.98;VQSLOD=8.8714;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,244:244:99:7068,572,0 3 3081825 3081825 T C exonic CNTN4 synonymous SNV CNTN4:NM_001206956:exon11:c.T1281C:p.D427D,CNTN4:NM_175613:exon11:c.T1284C:p.D428D,CNTN4:NM_001206955:exon19:c.T2268C:p.D756D,CNTN4:NM_001350095:exon20:c.T2268C:p.D756D,CNTN4:NM_175607:exon20:c.T2268C:p.D756D 0.9 0.97 0.88 0.88 0.91 0.8 0.8975 0.9619 0.8682 0.8894 0.8810 0.9177 0.8844 0.8073 0.93 0.96 0.91 0.94 0.92 rs339285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8944 0.9629 0.8770 0.9047 0.8853 0.8745 0.9182 0.8983 0.8082 0.9221 0.9577 0.8890 0.9338 0.8926 0.8891 0.9154 0.8971 hom 5922.21 195 3 3081825 . T C 5922.21 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5757;MQ=59.28;MQ0=0;QD=30.37;VQSLOD=8.8234;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:195:99:5889,478,0 3 3170792 3170792 C T exonic TRNT1 nonsynonymous SNV TRNT1:NM_001302946:exon2:c.C68T:p.P23L,TRNT1:NM_182916:exon2:c.C68T:p.P23L 0.9 0.66 0.97 1. 0.99 1. 0.9722 0.7046 0.9829 1 1 0.9988 0.9879 0.9995 0.9 0.71 1. 0.88 0.98 rs334773 . . Benign not_specified RCV000455312.1 MedGen CN169374 . . . . . . 0.734 0.043 T 0.0 0.026 B 0.0 0.013 B 0.380 0.134 N 1.000 0.191 P -2.42 0.001 N 2.11 0.199 T 0.33 0.039 N 0.163 0.213 -1.012 0.264 T 0.000 0.000 T . . . 1.429 0.235 12.94 0.832 0.141 0.110 0.162 N c -1.115 -0.915 1.000 0.458 0.672 0.522 0 3.44 0.383 0.876 0.275 0.154 0.240 0.712 0.285 0.723 0.315 6.448 0.209 . ENSG00000072756.12 Testis 0.9775 0.6967 0.9814 0.9997 1 1 0.9984 0.9850 0.9995 0.9157 0.7073 0.9761 1 1 1 0.9986 0.9786 hom 6155.36 179 3 3170792 . C T 6155.36 Mask AC=2;AF=1.00;AN=2;DP=179;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5416;MQ=59.04;MQ0=0;QD=34.39;VQSLOD=9.0264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:6155,485,0 3 3189279 3189279 A G exonic TRNT1 synonymous SNV TRNT1:NM_001302946:exon7:c.A888G:p.A296A,TRNT1:NM_182916:exon7:c.A948G:p.A316A 0.74 0.43 0.76 0.95 0.84 0.83 0.7986 0.5047 0.6766 0.9402 0.7995 0.8409 0.8245 0.8158 0.73 0.52 0.84 0.72 0.71 rs1705805 COSM3760047 1(large_intestine) Benign not_specified RCV000424213.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7986 0.4961 0.6866 0.8626 0.9406 0.7978 0.8407 0.8085 0.8168 0.7415 0.5166 0.7242 0.8543 0.9407 0.7980 0.8330 0.7935 hom 2865.75 98 3 3189279 . A G 2865.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.237;DP=98;Dels=0.00;FS=4.025;HRun=0;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=1.591;QD=29.24;ReadPosRankSum=1.202;VQSLOD=4.0974;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,97:98:99:2899,204,0 3 3886580 3886580 A G exonic LRRN1 synonymous SNV LRRN1:NM_020873:exon2:c.A255G:p.A85A,LRRN1:NM_001324188:exon3:c.A255G:p.A85A,LRRN1:NM_001324189:exon3:c.A255G:p.A85A 0.99 0.95 1. 1. 1. 1. 0.9942 0.9478 0.9971 0.9876 1 0.9998 0.9989 0.9999 0.98 0.95 1. 1. 1. rs4685689 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9951 0.9462 0.9966 1 0.9872 1.0000 0.9998 0.9978 0.9999 0.9855 0.9526 0.9928 1 0.9858 0.9997 0.9997 0.9980 hom 2567.35 77 3 3886580 . A G 2567.35 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=33.34;VQSLOD=8.9337;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2600,214,0 3 3887876 3887876 T C exonic LRRN1 synonymous SNV LRRN1:NM_020873:exon2:c.T1551C:p.N517N,LRRN1:NM_001324188:exon3:c.T1551C:p.N517N,LRRN1:NM_001324189:exon3:c.T1551C:p.N517N 0.48 0.43 0.57 0.25 0.73 0.45 0.6268 0.4500 0.5394 0.2485 0.8142 0.7309 0.6596 0.4991 0.63 0.46 0.72 0.54 0.75 rs2120609 COSM4415641 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6287 0.4414 0.5460 0.6333 0.2453 0.8143 0.7343 0.6523 0.5054 0.6418 0.4552 0.5695 0.6788 0.2574 0.8140 0.7506 0.7086 hom 6044.14 195 3 3887876 . T C 6044.14 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9881;MQ=59.65;MQ0=0;QD=31.00;VQSLOD=8.1267;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6043,499,0 3 4403837 4403837 A G exonic SUMF1 synonymous SNV SUMF1:NM_001164674:exon8:c.T1041C:p.T347T,SUMF1:NM_001164675:exon8:c.T1056C:p.T352T,SUMF1:NM_182760:exon9:c.T1116C:p.T372T 0.76 0.92 0.69 0.76 0.59 0.76 0.6440 0.8686 0.7589 0.7685 0.5823 0.5554 0.6333 0.7404 0.65 0.85 0.55 0.78 0.61 rs2633852 COSM3760098 1(thyroid);2(large_intestine) Benign|Benign not_specified|Multiple_sulfatase_deficiency RCV000082714.5|RCV000325033.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268263:272200:ORPHA585:54898003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6426 0.8712 0.7451 0.6056 0.7670 0.5766 0.5519 0.6226 0.7334 0.6427 0.8533 0.7189 0.6490 0.7454 0.5845 0.5222 0.5776 hom 2556.96 77 3 4403837 . A G 2556.96 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9874;MQ=54.96;MQ0=0;QD=33.21;VQSLOD=4.3759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:77:99:2590,205,0 3 4712413 4712413 G A exonic ITPR1 synonymous SNV ITPR1:NM_001168272:exon19:c.G1962A:p.K654K,ITPR1:NM_002222:exon19:c.G1962A:p.K654K,ITPR1:NM_001099952:exon20:c.G2007A:p.K669K 0.61 0.71 0.65 0.37 0.68 0.64 0.6832 0.7075 0.7243 0.4584 0.7231 0.6998 0.6711 0.6572 0.68 0.7 0.67 0.55 . rs2306875 COSM3738005;COSM3738004;COSM3738003 1(haematopoietic_and_lymphoid_tissue);1(soft_tissue) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000117299.2|RCV000369453.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6485 0.6850 0.7146 0.6028 0.3542 0.6950 0.6686 0.6533 0.6372 0.6776 0.6973 0.7041 0.6126 0.3502 0.7032 0.6935 0.7061 het 236.10 16 3 4712413 . G A 236.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.766;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.488;QD=14.76;ReadPosRankSum=-0.705;VQSLOD=6.9040;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,10:16:99:266,0,161 3 4716811 4716811 A C exonic ITPR1 synonymous SNV ITPR1:NM_001168272:exon22:c.A2613C:p.L871L,ITPR1:NM_002222:exon22:c.A2613C:p.L871L,ITPR1:NM_001099952:exon23:c.A2658C:p.L886L 0.33 0.39 0.32 0.29 0.2 0.45 0.2692 0.3684 0.4256 0.2927 0.3001 0.1937 0.2393 0.3831 0.23 0.36 0.18 0.32 . rs2306877 COSM4418242;COSM4418240;COSM4418241 1(haematopoietic_and_lymphoid_tissue) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000117300.2|RCV000323015.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2718 0.3764 0.4172 0.1555 0.2893 0.2992 0.1898 0.2366 0.3740 0.2756 0.3717 0.3496 0.1433 0.2794 0.3093 0.2101 0.2765 het 869.92 81 3 4716811 . A C 869.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.306;DP=81;Dels=0.00;FS=3.523;HRun=1;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;MQRankSum=-1.235;QD=10.74;ReadPosRankSum=0.825;VQSLOD=5.9743;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,35:81:99:900,0,1292 3 4767262 4767262 T C exonic ITPR1 synonymous SNV ITPR1:NM_001168272:exon40:c.T5124C:p.T1708T 0.51 0.43 0.65 0.26 0.79 0.5 0.6893 0.4745 0.5988 0.3215 0.7283 0.8119 0.7243 0.5594 0.71 0.48 0.81 0.6 . rs7613447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6878 0.4649 0.6190 0.7577 0.3169 0.7353 0.8201 0.7194 0.5644 0.6746 0.4766 0.6468 0.7550 0.3255 0.7311 0.8110 0.7240 het 807.28 56 3 4767262 . T C 807.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.139;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9722;MQ=59.14;MQ0=0;MQRankSum=-0.565;QD=14.42;ReadPosRankSum=-0.699;VQSLOD=4.6555;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:21,34:56:99:837,0,503 3 4817057 4817057 T C exonic ITPR1 synonymous SNV ITPR1:NM_002222:exon43:c.T5922C:p.N1974N,ITPR1:NM_001099952:exon44:c.T5967C:p.N1989N,ITPR1:NM_001168272:exon46:c.T6066C:p.N2022N 0.96 0.95 0.97 0.98 0.97 0.95 0.9701 0.9553 0.9768 0.9870 0.9900 0.9697 0.9667 0.9589 0.97 0.95 0.97 0.98 . rs6442905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9712 0.9543 0.9772 0.9560 0.9871 0.9913 0.9704 0.9619 0.9593 0.9710 0.9552 0.9749 0.9603 0.9846 0.9886 0.9744 0.9735 hom 4956.98 165 3 4817057 . T C 4956.98 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.041;DP=165;Dels=0.00;FS=2.585;HRun=0;HaplotypeScore=5.6076;MQ=59.19;MQ0=0;MQRankSum=-1.536;QD=30.04;ReadPosRankSum=-0.412;VQSLOD=3.7172;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,163:165:99:4911,382,0 3 4829732 4829732 A G exonic ITPR1 synonymous SNV ITPR1:NM_002222:exon48:c.A6528G:p.T2176T,ITPR1:NM_001099952:exon49:c.A6573G:p.T2191T,ITPR1:NM_001168272:exon51:c.A6672G:p.T2224T 0.25 0.27 0.21 0.092 0.32 0.32 0.3294 0.2921 0.2725 0.1089 0.4164 0.3533 0.3480 0.3643 0.3 0.27 0.32 0.22 . rs13079522 COSM3760141;COSM3760142;COSM3760143 1(large_intestine) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000117302.2|RCV000404506.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3015 0.2688 0.2361 0.3127 0.0931 0.3989 0.3278 0.3001 0.3367 0.3175 0.2836 0.2625 0.3046 0.1027 0.4018 0.3422 0.3459 het 178.90 25 3 4829732 . A G 178.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.719;DP=25;Dels=0.00;FS=4.446;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=1.078;QD=7.16;ReadPosRankSum=-1.544;VQSLOD=4.9332;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,8:25:99:209,0,546 3 4856180 4856180 T C exonic ITPR1 synonymous SNV ITPR1:NM_002222:exon54:c.T7446C:p.T2482T,ITPR1:NM_001099952:exon55:c.T7491C:p.T2497T,ITPR1:NM_001168272:exon57:c.T7590C:p.T2530T 0.79 0.68 0.82 0.96 0.84 0.7 0.8244 0.6989 0.8538 0.9664 0.9046 0.8329 0.8322 0.7374 0.8 0.73 0.84 0.75 . rs711631 COSM4415334;COSM4415336;COSM4415335 1(haematopoietic_and_lymphoid_tissue) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000117304.2|RCV000288234.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8292 0.6967 0.8429 0.8072 0.9678 0.9119 0.8330 0.8131 0.7389 0.8222 0.7111 0.8349 0.82 0.9735 0.9174 0.8448 0.8620 hom 4111.53 136 3 4856180 . T C 4111.53 Mask AC=2;AF=1.00;AN=2;DP=136;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7287;MQ=59.56;MQ0=0;QD=30.23;VQSLOD=9.3543;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4110,361,0 3 4856234 4856234 G A exonic ITPR1 synonymous SNV ITPR1:NM_002222:exon54:c.G7500A:p.K2500K,ITPR1:NM_001099952:exon55:c.G7545A:p.K2515K,ITPR1:NM_001168272:exon57:c.G7644A:p.K2548K 0.59 0.53 0.53 0.72 0.59 0.57 0.6054 0.5589 0.5272 0.7220 0.6348 0.6128 0.6161 0.5849 0.6 0.58 0.6 0.58 . rs901854 . . Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000117305.2|RCV000379072.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6040 0.5580 0.5246 0.5880 0.7388 0.6417 0.6120 0.6000 0.5870 0.6048 0.5593 0.5721 0.62 0.7522 0.6358 0.6073 0.6368 het 1078.66 88 3 4856234 . G A 1078.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.142;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=0.522;QD=12.26;ReadPosRankSum=0.547;VQSLOD=7.4337;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,42:88:99:1109,0,1412 3 5024771 5024771 T C exonic BHLHE40 synonymous SNV BHLHE40:NM_003670:exon5:c.T633C:p.G211G 0.16 0.086 0.24 0.19 0.15 0.17 0.1720 0.0857 0.2650 0.2122 0.1842 0.1604 0.2007 0.1802 0.13 0.088 0.16 0.16 0.13 rs908078 COSM4158174 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1748 0.0822 0.2577 0.2112 0.2065 0.1725 0.1530 0.1752 0.1811 0.1450 0.0871 0.2243 0.2333 0.1913 0.1676 0.1604 0.1711 het 1431.45 95 3 5024771 . T C 1431.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.314;DP=95;Dels=0.00;FS=3.875;HRun=0;HaplotypeScore=4.4174;MQ=59.51;MQ0=0;MQRankSum=-0.722;QD=15.07;ReadPosRankSum=0.497;VQSLOD=5.1656;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,52:95:99:1461,0,1038 3 5241309 5241309 C A exonic EDEM1 synonymous SNV EDEM1:NM_014674:exon3:c.C615A:p.A205A 0.92 0.86 0.99 0.94 0.97 0.86 0.9547 0.8781 0.9878 0.9394 0.9890 0.9743 0.9791 0.8937 0.94 0.88 0.98 0.86 0.95 rs410509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9586 0.8782 0.9849 0.9709 0.9406 0.9881 0.9748 0.9717 0.8931 0.9477 0.8808 0.9869 0.9667 0.9296 0.9865 0.9752 0.9735 hom 2309.83 77 3 5241309 . C A 2309.83 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=30.00;VQSLOD=9.1147;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2343,178,0 3 6903297 6903297 C T exonic GRM7 synonymous SNV GRM7:NM_000844:exon1:c.C222T:p.N74N,GRM7:NM_181874:exon1:c.C222T:p.N74N 0.42 0.36 0.45 0.32 0.41 0.58 0.4178 0.3518 0.4210 0.3043 0.3978 0.4048 0.4458 0.5670 0.36 0.32 0.38 0.47 0.23 rs3749380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4010 0.3318 0.4061 0.4054 0.2844 0.3668 0.3882 0.3998 0.5627 0.3603 0.3181 0.4115 0.3742 0.2949 0.3625 0.3864 0.3901 hom 1396.83 46 3 6903297 . C T 1396.83 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=30.37;VQSLOD=9.5041;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1430,120,0 3 7620168 7620168 A G exonic GRM7 synonymous SNV GRM7:NM_000844:exon8:c.A1575G:p.L525L,GRM7:NM_181874:exon8:c.A1575G:p.L525L 0.17 0.055 0.26 0.14 0.29 0.17 0.2518 0.0798 0.2930 0.1557 0.4330 0.2832 0.2743 0.1804 0.21 0.084 0.28 0.16 0.25 rs34373930 COSM4417280;COSM4417279;COSM4417281 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2602 0.0781 0.2927 0.2395 0.1549 0.4383 0.2789 0.2645 0.1831 0.2523 0.0897 0.2721 0.2133 0.1642 0.4252 0.3133 0.2939 het 1615.69 129 3 7620168 . A G 1615.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.768;DP=129;Dels=0.00;FS=3.557;HRun=0;HaplotypeScore=5.3821;MQ=59.32;MQ0=0;MQRankSum=0.555;QD=12.52;ReadPosRankSum=0.430;VQSLOD=4.9468;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,59:129:99:1646,0,1747 3 7620382 7620382 C T exonic GRM7 synonymous SNV GRM7:NM_000844:exon8:c.C1789T:p.L597L,GRM7:NM_181874:exon8:c.C1789T:p.L597L 0.17 0.055 0.26 0.14 0.29 0.17 0.2504 0.0796 0.2859 0.1554 0.4330 0.2831 0.2731 0.1765 0.21 0.084 0.28 0.16 0.24 rs7614915 COSM4002823;COSM4002821;COSM4002822 1(bone);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2591 0.0780 0.2880 0.2397 0.1547 0.4382 0.2791 0.2644 0.1793 0.2523 0.0897 0.2721 0.2152 0.1644 0.4255 0.3127 0.2953 het 2437.01 159 3 7620382 . C T 2437.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.385;DP=159;Dels=0.00;FS=2.007;HRun=1;HaplotypeScore=6.7015;MQ=57.73;MQ0=0;MQRankSum=0.723;QD=15.33;ReadPosRankSum=-0.399;VQSLOD=4.3887;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,84:159:99:2467,0,2136 3 7620789 7620789 T C exonic GRM7 synonymous SNV GRM7:NM_000844:exon8:c.T2196C:p.Y732Y,GRM7:NM_181874:exon8:c.T2196C:p.Y732Y 0.53 0.57 0.51 0.44 0.58 0.51 0.5478 0.5686 0.4999 0.4558 0.6314 0.5689 0.5629 0.4966 0.56 0.57 0.56 0.61 0.53 rs1485175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5465 0.5685 0.5085 0.5454 0.4550 0.6309 0.5653 0.5634 0.4968 0.5750 0.5822 0.5191 0.5530 0.4553 0.6174 0.5782 0.5625 hom 3671.83 112 3 7620789 . T C 3671.83 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4653;MQ=59.59;MQ0=0;QD=32.78;VQSLOD=9.5326;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3671,298,0 3 7620828 7620828 G A exonic GRM7 synonymous SNV GRM7:NM_000844:exon8:c.G2235A:p.G745G,GRM7:NM_181874:exon8:c.G2235A:p.G745G 0.17 0.055 0.26 0.14 0.29 0.17 0.2507 0.0797 0.2924 0.1557 0.4330 0.2824 0.2731 0.1767 0.21 0.084 0.28 0.16 0.25 rs1485174 COSM4002824;COSM4002826;COSM4002825 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.0779 0.2922 0.2397 0.1550 0.4382 0.2783 0.2641 0.1795 0.2523 0.0897 0.2703 0.2152 0.1642 0.4255 0.3126 0.2961 het 2329.20 149 3 7620828 . G A 2329.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.296;DP=149;Dels=0.00;FS=1.376;HRun=0;HaplotypeScore=1.8317;MQ=59.54;MQ0=0;MQRankSum=-0.145;QD=15.63;ReadPosRankSum=0.258;VQSLOD=6.6719;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,89:149:99:2359,0,1583 3 8787220 8787220 T C exonic CAV3 synonymous SNV CAV3:NM_001234:exon2:c.T123C:p.F41F,CAV3:NM_033337:exon2:c.T123C:p.F41F 0.15 0.28 0.13 0.014 0.23 0.053 0.1886 0.2890 0.0844 0.0059 0.2622 0.2372 0.1726 0.0671 0.26 0.28 0.24 0.16 0.12 rs13087941 COSM1131343 1(prostate) not provided|other|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_provided|not_specified|Cardiovascular_phenotype|Romano-Ward_syndrome|Long_QT_syndrome|Hypertrophic_cardiomyopathy|Caveolinopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Dominant RCV000024401.3|RCV000039797.11|RCV000246688.1|RCV000271441.1|RCV000310948.1|RCV000326617.1|RCV000366101.1|RCV000393888.1 MedGen|MedGen|MedGen|MedGen:SNOMED_CT|MedGen:SNOMED_CT|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:Orphanet|MedGen CN221809|CN169374|CN230736|CN119492:20852007|C0023976:9651007|HP:0001639:C0007194:ORPHA217569|CN043575:ORPHA207078|CN239426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1828 0.2925 0.1011 0.1519 0.0065 0.2614 0.2384 0.1849 0.0675 0.2411 0.2882 0.1158 0.1358 0.0142 0.2574 0.2446 0.2264 het 1275.42 79 3 8787220 . T C 1275.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.435;DP=79;Dels=0.00;FS=1.928;HRun=0;HaplotypeScore=2.6732;MQ=57.40;MQ0=0;MQRankSum=3.017;QD=16.14;ReadPosRankSum=0.356;VQSLOD=3.2490;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,48:79:99:1305,0,715 3 8809184 8809184 G A exonic OXTR synonymous SNV OXTR:NM_000916:exon3:c.C690T:p.N230N 0.25 0.31 0.23 0.055 0.33 0.29 0.3167 0.3465 0.2235 0.0496 0.3032 0.3634 0.3085 0.3124 0.33 0.3 0.34 0.065 0.26 rs237902 COSM447068 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2881 0.3102 0.2091 0.3366 0.0426 0.2718 0.3439 0.3089 0.3008 0.2961 0.3085 0.2117 0.3433 0.0395 0.2722 0.3270 0.2806 hom 1025.12 30 3 8809184 . G A 1025.12 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;QD=34.17;VQSLOD=9.4826;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:87.26:1058,87,0 3 8809703 8809703 G A exonic OXTR synonymous SNV OXTR:NM_000916:exon3:c.C171T:p.N57N 0.72 0.64 0.59 0.73 0.76 0.86 0.7540 0.6619 0.6215 0.7387 0.8010 0.7670 0.7507 0.8333 0.72 0.65 0.76 . 0.64 rs2228485 COSM4158672 1(breast);1(liver);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7341 0.6376 0.5896 0.7542 0.7254 0.7837 0.7557 0.7352 0.8267 0.7164 0.6456 0.6075 0.7351 0.7370 0.7769 0.7454 0.7398 hom 510.28 16 3 8809703 . G A 510.28 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.89;VQSLOD=14.1789;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:543,45,0 3 8955389 8955389 C T exonic RAD18 nonsynonymous SNV RAD18:NM_020165:exon8:c.G905A:p.R302Q 0.65 0.65 0.71 0.36 0.76 0.77 0.6951 0.6658 0.6327 0.3532 0.7655 0.7335 0.7291 0.7529 0.7 0.67 0.72 0.73 0.51 rs373572 COSM5653959 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.617 0.053 T 0.001 0.067 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.61 0.004 N 1.85 0.245 T -0.25 0.110 N 0.019 0.004 -0.988 0.331 T 0.000 0.000 T . . . 3.782 0.511 23.4 0.639 0.071 0.021 0.062 N c -0.894 -0.595 0.999 0.392 0.651 0.465 0 4.47 0.536 2.249 0.426 0.154 0.240 1.000 0.715 0.998 0.697 7.022 0.239 . ENSG00000180914.6 Nerve_Tibial 0.6847 0.6564 0.6228 0.7221 0.3349 0.7660 0.7259 0.6969 0.7340 0.6904 0.6630 0.6631 0.7550 0.3531 0.7584 0.7244 0.7270 hom 2060.58 73 3 8955389 . C T 2060.58 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=28.23;VQSLOD=8.1527;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2094,160,0 3 9099989 9099989 A G exonic SRGAP3 synonymous SNV SRGAP3:NM_001033117:exon7:c.T969C:p.N323N,SRGAP3:NM_014850:exon7:c.T969C:p.N323N 0.017 0.0015 0.048 . 0.033 0.016 0.0319 0.0089 0.0231 0 0.0310 0.0434 0.0319 0.0231 0.037 0.01 0.051 0.011 0.049 rs61747289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0335 0.0096 0.0250 0.0766 0 0.03 0.0442 0.0365 0.0226 0.0309 0.0099 0.0310 0.0629 0 0.0343 0.0457 0.0204 het 3218.59 250 3 9099989 . A G 3218.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.665;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7296;MQ=59.67;MQ0=0;MQRankSum=-0.875;QD=12.87;ReadPosRankSum=-0.225;VQSLOD=5.9754;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:131,119:250:99:3249,0,3414 3 9425944 9425944 G C exonic THUMPD3 synonymous SNV THUMPD3:NM_001114092:exon9:c.G1284C:p.R428R,THUMPD3:NM_015453:exon9:c.G1284C:p.R428R 0.11 0.035 0.22 0.061 0.19 0.08 0.1491 0.0575 0.2338 0.0982 0.2504 0.1588 0.1586 0.0937 0.12 0.061 0.15 0.098 0.12 rs1046788 COSM4002835 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1549 0.0553 0.2282 0.0911 0.0930 0.2561 0.1584 0.1648 0.0919 0.1376 0.0540 0.2225 0.1126 0.1011 0.2619 0.1545 0.1772 het 2432.26 249 3 9425944 . G C 2432.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.495;DP=249;DS;Dels=0.00;FS=4.476;HRun=0;HaplotypeScore=4.7707;MQ=59.46;MQ0=0;MQRankSum=0.369;QD=9.77;ReadPosRankSum=0.014;VQSLOD=4.6911;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:147,102:249:99:2462,0,4513 3 9426224 9426224 G A exonic THUMPD3 nonsynonymous SNV THUMPD3:NM_001114092:exon10:c.G1376A:p.R459Q,THUMPD3:NM_015453:exon10:c.G1376A:p.R459Q 0.1 0.04 0.22 0.06 0.19 0.068 0.1481 0.0631 0.2332 0.0980 0.2502 0.1584 0.1564 0.0849 0.12 0.066 0.15 0.098 0.14 rs1129174 COSM1425728 1(breast);2(large_intestine) . . . . . . . . . . . 0.122 0.276 T 0.056 0.214 B 0.022 0.184 B 0.000 0.629 D 0.758 0.295 P 0.695 0.181 N 0.97 0.425 T -0.34 0.127 N 0.041 0.192 -1.041 0.170 T 0.000 0.000 T . . . 3.630 0.494 23.2 0.996 0.711 0.943 0.605 D c -0.317 -0.123 1.000 0.747 0.672 0.522 0 4.8 0.610 5.446 0.661 1.048 0.713 1.000 0.715 0.998 0.697 14.284 0.656 Putative RNA methylase domain|S-adenosyl-L-methionine-dependent methyltransferase ENSG00000196220.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000196220.11|ENSG00000134077.11|ENSG00000168137.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11|ENSG00000134077.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Whole_Blood 0.1539 0.0613 0.2280 0.0890 0.0926 0.2560 0.1581 0.1636 0.0835 0.1386 0.0586 0.2231 0.1093 0.0995 0.2615 0.1541 0.1776 het 4008.59 250 3 9426224 . G A 4008.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.626;DP=250;DS;Dels=0.00;FS=3.752;HRun=1;HaplotypeScore=1.9970;MQ=59.50;MQ0=0;MQRankSum=0.080;QD=16.03;ReadPosRankSum=1.491;VQSLOD=6.0001;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3333,0,3368 3 9786819 9786819 C T exonic BRPF1 synonymous SNV BRPF1:NM_001319049:exon9:c.C2745T:p.S915S,BRPF1:NM_001003694:exon10:c.C3048T:p.S1016S,BRPF1:NM_001319050:exon10:c.C3027T:p.S1009S,BRPF1:NM_004634:exon10:c.C3030T:p.S1010S 0.0002 . . 0.001 . . 0.0005 9.762e-05 0.0003 0.0002 0 0.0007 0 0.0001 0.0002 0.0002 0.0002 . . rs200855358 COSM4981827 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 6.539e-05 8.937e-05 0.0013 0.0002 0 0.0007 0.0005 6.498e-05 0.0003 0.0002 0 0 0.0006 0.0003 0.0003 0 het 1050.59 81 3 9786819 . C T 1050.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DP=81;Dels=0.00;FS=3.398;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;MQRankSum=-0.572;QD=12.97;ReadPosRankSum=0.855;VQSLOD=4.0075;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,39:81:99:1081,0,1081 3 9867625 9867625 C T exonic ARPC4-TTLL3;TTLL3 synonymous SNV TTLL3:NM_001025930:exon8:c.C1296T:p.R432R,ARPC4-TTLL3:NM_001198793:exon9:c.C1050T:p.R350R 0.47 0.56 0.44 0.21 0.72 0.4 0.5873 0.5823 0.3354 0.1852 0.7767 0.6957 0.6313 0.4597 0.65 0.58 0.68 0.56 0.61 rs3732527 COSM3760294;COSM3760293 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5802 0.5852 0.3587 0.6721 0.1808 0.7734 0.6947 0.6104 0.4606 0.6451 0.5960 0.4141 0.67 0.1729 0.7686 0.7069 0.6646 hom 3412.52 108 3 9867625 . C T 3412.52 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;QD=31.60;VQSLOD=9.6039;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,107:108:99:3412,274,0 3 9870857 9870857 G A exonic ARPC4-TTLL3;TTLL3 synonymous SNV TTLL3:NM_001025930:exon10:c.G1761A:p.Q587Q,ARPC4-TTLL3:NM_001198793:exon11:c.G1515A:p.Q505Q 0.27 0.13 0.31 0.16 0.57 0.25 0.4057 0.1750 0.2387 0.1388 0.5142 0.5182 0.4625 0.3063 0.39 0.18 0.5 0.33 0.48 rs2290303 COSM3760296;COSM3760295 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4078 0.1738 0.2594 0.5816 0.1358 0.5126 0.5150 0.4428 0.3133 0.3847 0.1861 0.2914 0.5861 0.1307 0.5109 0.4969 0.4246 het 1810.61 147 3 9870857 . G A 1810.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.902;DP=147;Dels=0.00;FS=1.311;HRun=1;HaplotypeScore=3.7855;MQ=58.69;MQ0=1;MQRankSum=0.458;QD=12.32;ReadPosRankSum=0.612;VQSLOD=5.8368;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,69:147:99:1841,0,2160 3 9871030 9871030 T G exonic ARPC4-TTLL3;TTLL3 nonsynonymous SNV TTLL3:NM_001025930:exon10:c.T1934G:p.M645R,ARPC4-TTLL3:NM_001198793:exon11:c.T1688G:p.M563R 0.48 0.56 0.46 0.22 0.73 0.42 0.6004 0.5872 0.3451 0.1898 0.7777 0.7111 0.6565 0.4817 0.66 0.58 0.7 0.56 0.57 rs2290305 COSM4158696;COSM447135 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.037 0.244 N 1 0.090 P -1.295 0.007 N 3.69 0.041 T 3.67 0.001 N 0.156 0.414 -0.994 0.315 T 0.000 0.000 T . . . 0.895 0.179 10.05 0.622 0.067 0.035 0.086 N c -1.030 -0.792 0.998 0.367 0.707 0.730 0 4.14 0.477 2.348 0.435 0.125 0.212 0.081 0.222 0.963 0.446 2.655 0.047 . ENSG00000156990.10 Testis 0.5924 0.5880 0.3705 0.7140 0.1860 0.7750 0.7082 0.6268 0.4740 0.6537 0.5994 0.4320 0.7086 0.1795 0.7706 0.7187 0.6789 hom 6907.91 223 3 9871030 . T G 6907.91 Mask AC=2;AF=1.00;AN=2;DP=223;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5167;MQ=59.75;MQ0=0;QD=30.98;VQSLOD=7.9722;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:6907,536,0 3 9876919 9876919 G A exonic TTLL3 nonsynonymous SNV TTLL3:NM_001025930:exon13:c.G2494A:p.A832T 0.13 0.26 0.11 0.057 0.12 0.08 0.1475 0.2420 0.0876 0.0491 0.2492 0.1628 0.1514 0.0822 0.18 0.23 0.16 0.18 0.13 rs1057278 . . . . . . . . . . . . . 0.0 0.912 D 0.009 0.139 B 0.004 0.093 B 0.009 0.012 N 0.000 0.490 P 0.69 0.170 N 3.38 0.058 T -0.96 0.255 N 0.115 0.126 -0.922 0.453 T 0.000 0.000 T . . . 2.541 0.367 19.73 0.996 0.768 0.458 0.274 N c -0.729 -0.654 0.934 0.271 0.707 0.730 0 0.904 0.184 0.611 0.238 1.048 0.713 0.953 0.330 0.886 0.372 6.033 0.188 . ENSG00000171148.9|ENSG00000171148.9 Nerve_Tibial|Whole_Blood 0.1435 0.2473 0.0862 0.0693 0.0458 0.2457 0.1645 0.1442 0.0819 0.2032 0.2498 0.1089 0.0662 0.0476 0.2471 0.1905 0.2067 het 1301.58 98 3 9876919 . G A 1301.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.350;DP=98;Dels=0.00;FS=4.144;HRun=0;HaplotypeScore=3.2422;MQ=59.53;MQ0=0;MQRankSum=0.874;QD=13.28;ReadPosRankSum=0.114;VQSLOD=5.9809;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,49:98:99:1332,0,1371 3 9876987 9876987 G A exonic TTLL3 synonymous SNV TTLL3:NM_001025930:exon13:c.G2562A:p.R854R 0.12 0.21 0.1 0.057 0.12 0.073 0.1391 0.1977 0.0817 0.0488 0.2484 0.1577 0.1462 0.0728 0.17 0.19 0.16 0.16 0.12 rs1057281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1365 0.2024 0.0835 0.0640 0.0484 0.2443 0.1599 0.1346 0.0717 0.1887 0.2062 0.0967 0.0563 0.0475 0.2451 0.1875 0.2020 het 1212.18 80 3 9876987 . G A 1212.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.130;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5310;MQ=59.19;MQ0=0;MQRankSum=0.370;QD=15.15;ReadPosRankSum=0.943;VQSLOD=6.4037;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,44:80:99:1242,0,981 3 9934605 9934605 T C exonic JAGN1 synonymous SNV JAGN1:NM_032492:exon2:c.T96C:p.T32T 0.69 0.68 0.63 0.72 0.71 0.68 0.6885 0.6857 0.6175 0.7286 0.7070 0.7001 0.6789 0.6642 0.69 0.69 0.69 0.63 0.57 rs279553 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6824 0.6846 0.6118 0.6618 0.7313 0.7076 0.7000 0.6950 0.6537 0.6920 0.6817 0.6304 0.6467 0.7466 0.6934 0.6967 0.6840 hom 1781.05 52 3 9934605 . T C 1781.05 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.11;MQ0=0;QD=34.25;VQSLOD=10.0043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1814,141,0 3 9934753 9934753 A G exonic JAGN1 nonsynonymous SNV JAGN1:NM_032492:exon2:c.A244G:p.I82V 0.013 . 0.029 . 0.037 0.0092 0.0231 0.0064 0.0170 0 0.0080 0.0351 0.0319 0.0074 0.025 0.0061 0.035 0.022 0.041 rs35365817 . . . . . . . . . . . . . 0.13 0.267 T 0.078 0.229 B 0.091 0.284 B 0.012 0.293 N 0.999 0.451 D 2.32 0.666 M . . . -0.54 0.166 N 0.049 0.030 -1.010 0.270 T 0.076 0.304 T . . . 0.830 0.173 9.646 0.962 0.284 0.911 0.526 D c -0.281 -0.220 0.999 0.398 0.722 0.854 0 -0.009 0.133 2.578 0.455 -0.165 0.106 1.000 0.715 0.984 0.507 5.783 0.175 . . . 0.0226 0.0063 0.0157 0.0178 0 0.0112 0.0372 0.0232 0.0073 0.0194 0.0077 0.0167 0.0232 0 0.0089 0.0305 0.0244 het 859.87 78 3 9934753 . A G 859.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.758;DP=78;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=1.8606;MQ=59.70;MQ0=0;MQRankSum=0.368;QD=11.02;ReadPosRankSum=1.597;VQSLOD=6.0587;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,34:78:99:890,0,1272 3 9952706 9952706 A G exonic IL17RE synonymous SNV IL17RE:NM_153481:exon7:c.A612G:p.T204T,IL17RE:NM_001193380:exon9:c.A960G:p.T320T,IL17RE:NM_153480:exon9:c.A960G:p.T320T,IL17RE:NM_153483:exon10:c.A1080G:p.T360T 0.43 0.64 0.47 0.094 0.55 0.33 0.4842 0.6224 0.4451 0.0815 0.5901 0.5430 0.5022 0.3548 0.57 0.62 0.54 0.45 0.5 rs279572 COSM4158703;COSM4158701;COSM4158702 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4803 0.6225 0.4409 0.4722 0.0822 0.5908 0.5459 0.5179 0.3533 0.5465 0.6173 0.4833 0.5033 0.0871 0.5765 0.5543 0.5154 hom 3184.43 104 3 9952706 . A G 3184.43 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.631;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2440;MQ=58.66;MQ0=0;MQRankSum=-0.252;QD=30.62;ReadPosRankSum=0.286;VQSLOD=8.1449;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,103:104:99:3217,271,0 3 9956279 9956279 G A exonic IL17RE nonsynonymous SNV IL17RE:NM_001193380:exon14:c.G1417A:p.G473R 0.36 0.41 0.46 0.093 0.54 0.32 0.4609 0.4018 0.4368 0.0802 0.5853 0.5380 0.4945 0.3511 0.49 0.42 0.53 0.32 0.43 rs455863 . . . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.473 P . . . 1.52 0.307 T 0.66 0.023 N . . -0.993 0.317 T 0.000 0.000 T . . . 0.569 0.148 7.939 0.807 0.129 0.012 0.043 N c -2.158 -2.305 1.0 0.983 0.658 0.486 0 -9.87 0.004 -4.328 0.003 -2.481 0.003 0.000 0.063 0.963 0.446 6.235 0.198 . ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163703.13|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163703.13|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4610 0.4004 0.4303 0.4602 0.0798 0.5870 0.5412 0.5035 0.3492 0.4833 0.4049 0.4652 0.4967 0.0865 0.5743 0.5501 0.5031 hom 5934.29 189 3 9956279 . G A 5934.29 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8513;MQ=59.16;MQ0=0;QD=31.40;VQSLOD=9.2206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,188:189:99:5908,457,0 3 9957455 9957455 C T exonic IL17RE synonymous SNV IL17RE:NM_153481:exon14:c.C1620T:p.L540L,IL17RE:NM_153480:exon16:c.C1968T:p.L656L,IL17RE:NM_153483:exon17:c.C2088T:p.L696L 0.34 0.38 0.44 0.093 0.49 0.31 0.4766 0.4312 0.4529 0.1043 0.6091 0.5325 0.5241 0.4108 0.41 0.35 0.44 0.3 0.35 rs1056286 COSM4158705;COSM4158704 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4162 0.3582 0.3796 0.3914 0.0728 0.5389 0.4906 0.4630 0.3185 0.4478 0.3802 0.4366 0.4371 0.0868 0.5391 0.5040 0.4703 hom 501.78 16 3 9957455 . C T 501.78 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=31.36;VQSLOD=8.6235;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:42.13:535,42,0 3 9959713 9959713 C T exonic IL17RC synonymous SNV IL17RC:NM_001203263:exon3:c.C234T:p.T78T,IL17RC:NM_001203264:exon3:c.C234T:p.T78T,IL17RC:NM_001203265:exon3:c.C234T:p.T78T,IL17RC:NM_032732:exon3:c.C234T:p.T78T,IL17RC:NM_153460:exon3:c.C234T:p.T78T,IL17RC:NM_153461:exon3:c.C447T:p.T149T 0.076 0.0091 0.12 0.015 0.19 0.086 0.1945 0.0457 0.1552 0.0243 0.3034 0.2510 0.1958 0.1122 0.15 0.046 0.21 0.033 0.057 rs4686383 COSM3760305 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1528 0.0346 0.1115 0.1343 0.0146 0.2245 0.2065 0.1582 0.0947 0.1582 0.0405 0.1259 0.1325 0.0154 0.2310 0.2255 0.1922 het 507.22 34 3 9959713 . C T 507.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.374;DP=34;Dels=0.00;FS=2.210;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.689;QD=14.92;ReadPosRankSum=0.310;VQSLOD=6.5619;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,17:34:99:537,0,442 3 9960070 9960070 C T exonic IL17RC nonsynonymous SNV IL17RC:NM_001203263:exon4:c.C332T:p.S111L,IL17RC:NM_001203264:exon4:c.C332T:p.S111L,IL17RC:NM_001203265:exon4:c.C332T:p.S111L,IL17RC:NM_032732:exon4:c.C332T:p.S111L,IL17RC:NM_153460:exon4:c.C332T:p.S111L,IL17RC:NM_153461:exon4:c.C545T:p.S182L 0.39 0.5 0.47 0.093 0.54 0.32 0.5119 0.5186 0.4995 0.1157 0.6215 0.5707 0.5147 0.3908 0.52 0.49 0.53 0.36 0.42 rs708567 COSM4158706 1(bone);1(thyroid) . . . . . . . . . . . 0.122 0.294 T 0.0 0.238 B 0.0 0.206 B 0.899 0.086 N 1 0.090 P -0.455 0.028 N 2.27 0.174 T -1.82 0.446 N 0.04 0.095 -0.938 0.429 T 0.000 0.000 T . . . -0.042 0.090 2.201 0.732 0.099 0.016 0.051 N c -1.239 -1.239 1.000 0.405 0.706 0.609 0 -0.28 0.122 -0.702 0.051 0.058 0.164 0.000 0.063 0.003 0.074 4.023 0.091 Interleukin-17 receptor C/E\x2c N-terminal ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000171135.10|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163703.13|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163703.13|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163703.13|ENSG00000163703.13|ENSG00000163702.14|ENSG00000163702.14|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14|ENSG00000171135.10|ENSG00000163702.14 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4640 0.4722 0.4313 0.4595 0.0802 0.5864 0.5394 0.5038 0.3517 0.5059 0.4811 0.4700 0.5 0.0866 0.5728 0.5516 0.5154 hom 697.47 21 3 9960070 . C T 697.47 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.21;VQSLOD=13.8620;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.18:730,57,0 3 9970031 9970031 A G exonic IL17RC nonsynonymous SNV IL17RC:NM_001203265:exon10:c.A875G:p.Q292R,IL17RC:NM_032732:exon10:c.A875G:p.Q292R,IL17RC:NM_001203263:exon11:c.A920G:p.Q307R,IL17RC:NM_001203264:exon11:c.A920G:p.Q307R,IL17RC:NM_153460:exon11:c.A920G:p.Q307R,IL17RC:NM_153461:exon11:c.A1133G:p.Q378R 1. 1. 1. 1. 0.99 1. 0.9957 0.9982 0.9955 0.9999 0.9991 0.9939 0.9967 0.9980 1. 1. 0.99 0.84 0.89 rs279549 . . . . . . . . . . . . . 1.0 0.020 T 0.0 0.026 B 0.001 0.040 B 0.412 0.130 N 1 0.090 P -0.95 0.013 N 2.69 0.123 T 0.0 0.121 N 0.249 0.304 -0.971 0.370 T 0.000 0.000 T . . . -1.505 0.017 0.003 0.097 0.001 0.024 0.067 N c -1.417 -1.352 0.998 0.368 0.696 0.567 0 1.66 0.230 -1.078 0.035 -0.231 0.094 0.000 0.063 0.007 0.100 6.997 0.238 Interleukin-17 receptor C/E\x2c N-terminal . . 0.9954 0.9985 0.9948 0.9943 0.9999 0.9993 0.9931 0.9968 0.9979 0.9965 0.9991 0.9952 0.9967 1 0.9986 0.9942 0.9980 hom 3146.27 103 3 9970031 . A G 3146.27 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.46;MQ0=0;QD=30.55;VQSLOD=8.4770;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,102:103:99:3179,262,0 3 9970158 9970158 C T exonic IL17RC synonymous SNV IL17RC:NM_001203265:exon10:c.C1002T:p.N334N,IL17RC:NM_032732:exon10:c.C1002T:p.N334N,IL17RC:NM_001203263:exon11:c.C1047T:p.N349N,IL17RC:NM_001203264:exon11:c.C1047T:p.N349N,IL17RC:NM_153460:exon11:c.C1047T:p.N349N,IL17RC:NM_153461:exon11:c.C1260T:p.N420N 0.15 0.14 0.19 0.018 0.3 0.15 0.2175 0.1582 0.1574 0.0183 0.2545 0.2721 0.2578 0.1622 0.23 0.16 0.26 0.12 0.22 rs279548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2157 0.1524 0.1620 0.3568 0.0183 0.2592 0.2641 0.2529 0.1602 0.2078 0.1526 0.1763 0.3742 0.0148 0.2532 0.2476 0.2239 het 3960.29 204 3 9970158 . C T 3960.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.785;DP=204;Dels=0.00;FS=5.767;HRun=0;HaplotypeScore=3.3622;MQ=59.48;MQ0=0;MQRankSum=0.514;QD=19.41;ReadPosRankSum=-0.993;VQSLOD=3.9143;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,114:204:99:3342,0,2500 3 9975247 9975247 C G exonic IL17RC synonymous SNV IL17RC:NM_001203264:exon17:c.C2043G:p.G681G,IL17RC:NM_001203265:exon17:c.C2037G:p.G679G,IL17RC:NM_001203263:exon18:c.C2094G:p.G698G,IL17RC:NM_032732:exon18:c.C2088G:p.G696G,IL17RC:NM_153460:exon19:c.C2133G:p.G711G,IL17RC:NM_153461:exon19:c.C2346G:p.G782G 0.99 0.97 0.99 1. 0.98 0.99 0.9896 0.9770 0.9933 0.9972 0.9976 0.9890 0.9851 0.9883 0.99 0.99 0.99 0.98 0.22 rs183956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9895 0.9784 0.9914 0.9896 0.9969 0.9980 0.9879 0.9925 0.9874 0.9868 0.9774 0.9881 0.9967 0.9957 0.9974 0.9883 0.9918 hom 481.43 16 3 9975247 . C G 481.43 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=54.31;MQ0=0;QD=30.09;VQSLOD=7.3478;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.13:514,39,0 3 9976159 9976159 A G exonic CRELD1 nonsynonymous SNV CRELD1:NM_015513:exon1:c.A37G:p.M13V,CRELD1:NM_001031717:exon2:c.A37G:p.M13V,CRELD1:NM_001077415:exon2:c.A37G:p.M13V 1. 1. 1. 1. 0.98 1. 0.9916 0.9979 0.9940 0.9999 0.9976 0.9889 0.9889 0.9900 0.99 1. 0.99 1. 0.96 rs279552 . . Benign|Benign not_specified|Atrioventricular_septal_defect_2 RCV000124609.1|RCV000462748.1 MedGen|MedGen:OMIM CN169374|C1853508:606217 . . . . . . 0.553 0.077 T 0.0 0.026 B 0.0 0.013 B 0.141 0.183 N 1 0.090 P -0.345 0.033 N 0.27 0.609 T -0.11 0.087 N 0.071 0.074 -1.007 0.279 T 0.000 0.000 T . . . -1.779 0.011 0.002 0.677 0.082 0.026 0.070 N c -1.564 -1.524 1.000 0.747 0.733 0.969 0 0.328 0.151 -0.403 0.072 -0.416 0.060 0.000 0.063 0.512 0.273 1.196 0.017 . . . 0.9913 0.9979 0.9925 0.9894 0.9999 0.9981 0.9880 0.9943 0.9890 0.9930 0.9979 0.9928 0.9967 1 0.9974 0.9883 0.9929 hom 3457.85 113 3 9976159 . A G 3457.85 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4588;MQ=59.15;MQ0=0;QD=30.60;VQSLOD=7.3227;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,112:113:99:3457,268,0 3 9991388 9991388 G C exonic PRRT3 nonsynonymous SNV PRRT3:NM_001318871:exon2:c.C412G:p.Q138E,PRRT3:NM_207351:exon2:c.C412G:p.Q138E 0.97 1. 0.98 0.97 0.97 0.91 0.9633 0.9945 0.9794 0.9652 0.9474 0.9739 0.9489 0.8966 0.98 1. 0.97 0.98 0.97 rs279601 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.333 N 1 0.090 P -1.445 0.006 N 2.9 0.130 T 0.3 0.041 N 0.021 0.005 -0.989 0.328 T 0.000 0.000 T . . . -2.265 0.005 0.001 0.539 0.049 0.001 0.007 N c -1.310 -1.223 0.999 0.379 0.672 0.522 0 3.52 0.393 0.389 0.203 -0.331 0.074 0.002 0.151 0.047 0.162 6.982 0.237 . . . 0.9637 0.9954 0.9797 0.9672 0.9652 0.9477 0.9747 0.9710 0.8990 0.9742 0.9936 0.9785 0.9768 0.9654 0.9499 0.9701 0.9603 hom 4966.86 147 3 9991388 . G C 4966.86 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.72;MQ0=0;QD=33.79;VQSLOD=9.0339;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4966,391,0 3 10123089 10123089 C T exonic FANCD2 synonymous SNV FANCD2:NM_001018115:exon32:c.C3165T:p.Y1055Y,FANCD2:NM_001319984:exon32:c.C3165T:p.Y1055Y,FANCD2:NM_033084:exon32:c.C3165T:p.Y1055Y . . . . . . 9.06e-05 9.61e-05 0 0 0 0.0001 0 0 0.0002 0.0002 0.0002 . . rs375929975 COSM1593185;COSM1035786 1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.534e-05 0 0 0 4.484e-05 0.0002 0 0 0.0002 0.0002 0 0 0 0 0.0002 0 het 2140.44 190 3 10123089 . C T 2140.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.842;DP=190;Dels=0.00;FS=0.548;HRun=0;HaplotypeScore=8.3437;MQ=59.17;MQ0=0;MQRankSum=-1.252;QD=11.27;ReadPosRankSum=0.129;VQSLOD=2.4095;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,86:190:99:2170,0,2790 3 10264480 10264480 C G exonic IRAK2 nonsynonymous SNV IRAK2:NM_001570:exon9:c.C1174G:p.L392V 0.29 0.21 0.46 0.13 0.42 0.29 0.3612 0.2334 0.4692 0.1199 0.3484 0.4040 0.3568 0.3249 0.36 0.23 0.42 0.34 0.45 rs3844283 COSM4002358;COSM4002357 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.998 0.875 D 0.002 0.383 N 0.000 0.537 P 1.51 0.383 L 1.35 0.346 T -2.72 0.579 D 0.167 0.202 -0.918 0.459 T 0.000 0.000 T . . . 4.428 0.593 24.2 0.999 0.934 0.864 0.454 D c 0.579 0.549 1.000 0.473 0.615 0.372 0 5.14 0.699 1.675 0.369 0.847 0.346 1.000 0.715 0.987 0.523 14.105 0.645 Protein kinase domain|Protein kinase-like domain ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3 Artery_Coronary|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.3690 0.2295 0.4722 0.3673 0.1148 0.3468 0.4132 0.3761 0.3232 0.3420 0.2404 0.4296 0.3510 0.1259 0.3592 0.4139 0.3663 hom 5868.92 180 3 10264480 . C G 5868.92 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6939;MQ=59.64;MQ0=0;QD=32.61;VQSLOD=8.1043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5868,460,0 3 10276163 10276163 T A exonic IRAK2 nonsynonymous SNV IRAK2:NM_001570:exon11:c.T1293A:p.D431E 0.83 0.78 0.81 0.99 0.65 0.92 0.7264 0.7705 0.8409 0.9960 0.6245 0.6362 0.7124 0.8826 0.68 0.76 0.63 0.83 0.62 rs708035 COSM445234;COSM445233 1(breast);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.090 P -1.61 0.004 N -0.1 0.643 T 2.36 0.003 N 0.066 0.052 -0.985 0.340 T 0.000 0.000 T . . . 1.005 0.190 10.69 0.610 0.064 0.127 0.172 N c -1.208 -0.968 0.999 0.378 0.651 0.465 0 -1.06 0.094 0.297 0.187 -0.508 0.051 0.998 0.411 0.327 0.242 5.644 0.167 Protein kinase domain|Protein kinase-like domain ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000240288.3|ENSG00000157017.11|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.7284 0.7744 0.8294 0.6878 0.9964 0.6254 0.6350 0.6875 0.8784 0.6909 0.7672 0.7885 0.6722 0.9969 0.6309 0.6223 0.6894 hom 2336.66 80 3 10276163 . T A 2336.66 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9243;MQ=58.77;MQ0=0;QD=29.21;VQSLOD=7.6900;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2370,181,0 3 10302172 10302172 G A exonic TATDN2 nonsynonymous SNV TATDN2:NM_014760:exon3:c.G766A:p.V256I 0.6 0.37 0.42 0.96 0.43 0.81 0.5061 0.3815 0.4159 0.9808 0.4421 0.4206 0.5167 0.7683 0.39 0.37 0.4 0.54 0.29 rs394558 COSM5904776 1(skin) . . . . . . . . . . . 0.599 0.056 T 0.027 0.182 B 0.006 0.112 B 0.383 0.134 N 1 0.090 P 1.21 0.306 L 1.81 0.252 T -0.12 0.088 N 0.052 0.034 -0.946 0.417 T 0.000 0.000 T . . . -1.143 0.027 0.008 0.299 0.016 0.066 0.124 N c -1.447 -1.461 1.000 0.408 0.707 0.730 0 0.786 0.177 0.560 0.230 -1.040 0.021 0.005 0.169 0.001 0.043 5.504 0.160 . ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000157017.11|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000231177.4|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3|ENSG00000231177.4|ENSG00000240288.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.5007 0.3772 0.4157 0.5 0.9798 0.4435 0.4095 0.4622 0.7648 0.4327 0.3689 0.4233 0.4768 0.9741 0.4542 0.4029 0.4743 het 546.07 55 3 10302172 . G A 546.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.975;DP=55;Dels=0.00;FS=2.357;HRun=0;HaplotypeScore=0.9933;MQ=58.73;MQ0=0;MQRankSum=0.781;QD=9.93;ReadPosRankSum=-2.218;VQSLOD=5.4907;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,22:55:99:576,0,971 3 10353626 10353626 C T exonic SEC13 nonsynonymous SNV SEC13:NM_001278946:exon5:c.G473A:p.R158H 0.2 0.26 0.22 0.026 0.23 0.22 0.1998 0.2558 0.1369 0.0346 0.1326 0.2179 0.1949 0.2488 0.23 0.25 0.23 0.25 0.16 rs35671 COSN18728404;COSN18728196;COSN18728495;COSN18728302 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1936 0.2544 0.1418 0.1638 0.0384 0.1255 0.2267 0.1946 0.2455 0.2111 0.2621 0.1551 0.1788 0.0435 0.1297 0.2233 0.1945 het 618.97 63 3 10353626 . C T 618.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.531;DP=63;Dels=0.00;FS=1.108;HRun=0;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;MQRankSum=-0.746;QD=9.82;ReadPosRankSum=0.517;VQSLOD=6.4405;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,26:63:99:649,0,923 3 10379923 10379923 C T exonic ATP2B2 synonymous SNV ATP2B2:NM_001330611:exon19:c.G3222A:p.A1074A,ATP2B2:NM_001683:exon19:c.G3222A:p.A1074A,ATP2B2:NM_001001331:exon22:c.G3357A:p.A1119A 0.57 0.6 0.65 0.54 0.43 0.65 0.4870 0.5566 0.7070 0.5585 0.3980 0.4037 0.4648 0.6244 0.46 0.54 0.42 0.61 0.34 rs35678 COSM4157110;COSM4157111 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4917 0.5591 0.6911 0.3884 0.5493 0.3957 0.4077 0.4564 0.6218 0.4634 0.5481 0.6196 0.3633 0.5445 0.3982 0.4148 0.4476 het 1801.19 119 3 10379923 . C T 1801.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.514;DP=119;Dels=0.00;FS=3.691;HRun=0;HaplotypeScore=5.3170;MQ=58.25;MQ0=0;MQRankSum=-0.241;QD=15.14;ReadPosRankSum=-0.983;VQSLOD=4.6122;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,71:119:99:1831,0,1274 3 10420087 10420087 T C exonic ATP2B2 synonymous SNV ATP2B2:NM_001330611:exon7:c.A915G:p.Q305Q,ATP2B2:NM_001683:exon7:c.A915G:p.Q305Q,ATP2B2:NM_001001331:exon10:c.A1050G:p.Q350Q 0.49 0.44 0.32 0.7 0.37 0.6 0.4092 0.3993 0.3285 0.6640 0.3929 0.3536 0.4376 0.5665 0.36 0.39 0.34 0.46 0.22 rs751122 COSM4157113;COSM4157112 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4029 0.3974 0.3306 0.3484 0.6589 0.3895 0.3497 0.3725 0.5627 0.3846 0.3916 0.3174 0.3278 0.6593 0.3987 0.3509 0.4092 het 1730.64 128 3 10420087 . T C 1730.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.941;DP=128;Dels=0.00;FS=13.736;HRun=0;HaplotypeScore=3.4321;MQ=59.38;MQ0=0;MQRankSum=1.808;QD=13.52;ReadPosRankSum=1.698;VQSLOD=3.5849;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,61:128:99:1761,0,1825 3 10967739 10967739 T C exonic SLC6A11 synonymous SNV SLC6A11:NM_014229:exon9:c.T1170C:p.P390P 0.33 0.46 0.31 0.17 0.46 0.21 0.3784 0.4440 0.2119 0.1482 0.4480 0.4550 0.3954 0.2361 0.45 0.46 0.44 0.45 0.43 rs2272395 COSM3759601 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3681 0.4428 0.2146 0.4382 0.1477 0.4359 0.4526 0.4080 0.2367 0.4338 0.4453 0.2679 0.4536 0.1483 0.4497 0.4637 0.4268 hom 8367.40 250 3 10967739 . T C 8367.40 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7853;MQ=58.94;MQ0=0;QD=33.47;VQSLOD=8.7092;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8367,653,0 3 10976876 10976876 A G exonic SLC6A11 synonymous SNV SLC6A11:NM_014229:exon13:c.A1737G:p.T579T 0.33 0.54 0.3 0.1 0.43 0.24 0.3594 0.5172 0.1945 0.0768 0.3808 0.4235 0.3562 0.2562 0.45 0.53 0.41 0.4 0.4 rs2245532 COSM3759602 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3472 0.5138 0.2007 0.4770 0.0748 0.3650 0.4194 0.3793 0.2560 0.4203 0.5101 0.2524 0.4967 0.0721 0.3692 0.4266 0.4041 hom 6891.06 216 3 10976876 . A G 6891.06 Mask AC=2;AF=1.00;AN=2;DP=216;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2169;MQ=59.03;MQ0=0;QD=31.90;VQSLOD=5.1470;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6890,551,0 3 11596302 11596302 T C exonic ATG7 synonymous SNV ATG7:NM_001144912:exon17:c.T1857C:p.D619D,ATG7:NM_001136031:exon18:c.T2016C:p.D672D,ATG7:NM_001349236:exon18:c.T1980C:p.D660D,ATG7:NM_001349237:exon18:c.T1938C:p.D646D,ATG7:NM_006395:exon19:c.T2097C:p.D699D,ATG7:NM_001349233:exon20:c.T2097C:p.D699D,ATG7:NM_001349234:exon20:c.T2097C:p.D699D,ATG7:NM_001349235:exon20:c.T2097C:p.D699D,ATG7:NM_001349232:exon21:c.T2097C:p.D699D 0.25 0.34 0.23 0.14 0.32 0.21 0.2797 0.3219 0.1801 0.1329 0.2757 0.3223 0.2756 0.2286 0.32 0.32 0.32 0.24 0.28 rs8154 COSM329155 2(haematopoietic_and_lymphoid_tissue);1(prostate);2(cervix) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2751 0.3201 0.1923 0.4156 0.1328 0.2668 0.3159 0.3034 0.2316 0.2977 0.3156 0.2172 0.4172 0.1463 0.2616 0.3143 0.2975 hom 2600.03 88 3 11596302 . T C 2600.03 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.26;MQ0=0;QD=29.55;VQSLOD=8.6498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2633,220,0 3 11643465 11643465 T C exonic VGLL4 nonsynonymous SNV VGLL4:NM_001128219:exon2:c.A114G:p.I38M,VGLL4:NM_014667:exon3:c.A96G:p.I32M,VGLL4:NM_001284390:exon4:c.A111G:p.I37M 0.93 1. 0.89 0.94 0.95 0.83 0.9276 0.9893 0.8224 0.9492 0.9498 0.9512 0.9411 0.8443 0.96 0.99 0.95 0.96 0.9 rs2276749 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.090 B 0.001 0.040 B 0.000 0.497 N 0.966 0.810 P . . . 1.01 0.411 T 0.94 0.018 N 0.202 0.248 -0.924 0.450 T 0.000 0.000 T . . . 0.797 0.170 9.447 0.867 0.162 0.130 0.174 N c -0.368 -0.168 1.000 0.747 0.742 0.980 0 5.33 0.756 4.465 0.596 0.016 0.142 1.000 0.715 0.999 0.750 14.227 0.653 . . . 0.9246 0.9887 0.8368 0.9390 0.9504 0.9481 0.9513 0.9358 0.8443 0.9586 0.9905 0.8807 0.9404 0.9562 0.9539 0.9477 0.9337 hom 2703.74 76 3 11643465 . T C 2703.74 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8308;MQ=59.09;MQ0=0;QD=35.58;VQSLOD=8.8496;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2737,214,0 3 11871215 11871215 T C exonic TAMM41 nonsynonymous SNV TAMM41:NM_001284401:exon4:c.A535G:p.I179V,TAMM41:NM_138807:exon4:c.A535G:p.I179V,TAMM41:NM_001321294:exon5:c.A412G:p.I138V,TAMM41:NM_001321295:exon6:c.A37G:p.I13V 0.052 0.003 0.068 0.005 0.14 0.07 0.0984 0.0264 0.0517 0.0081 0.1296 0.1347 0.1046 0.0643 0.1 0.031 0.14 0.087 0.18 rs11551661 COSM3759631 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.543 0.067 T 0.043 0.202 B 0.013 0.154 B 0.707 0.100 N 1 0.090 P 0.125 0.086 N 1.59 0.288 T -0.27 0.114 N 0.033 0.013 -1.010 0.269 T 0.000 0.001 T . . . -0.549 0.053 0.167 0.664 0.078 0.114 0.164 N c -1.298 -1.318 0.116 0.168 0.707 0.730 0 -8.09 0.010 -0.451 0.068 -0.221 0.097 0.082 0.222 0.946 0.421 5.112 0.141 . . . 0.0969 0.0246 0.0526 0.0623 0.0075 0.1270 0.1399 0.0999 0.0642 0.0995 0.0282 0.0740 0.0828 0.0099 0.1181 0.1469 0.1184 het 2526.89 186 3 11871215 . T C 2526.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.475;DP=186;DS;Dels=0.00;FS=2.645;HRun=0;HaplotypeScore=2.5762;MQ=58.90;MQ0=0;MQRankSum=-0.521;QD=13.59;ReadPosRankSum=-1.548;VQSLOD=5.8044;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,99:186:99:2557,0,2325 3 11887991 11887991 C G exonic TAMM41 synonymous SNV TAMM41:NM_001284401:exon1:c.G120C:p.P40P,TAMM41:NM_138807:exon1:c.G120C:p.P40P 0.43 0.53 0.41 0.26 0.47 0.46 0.4415 0.5287 0.3065 0.2548 0.4682 0.4641 0.4624 0.4759 0.48 0.51 0.46 0.42 0.47 rs408600 COSM4002406 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4352 0.5257 0.3166 0.4848 0.2556 0.4670 0.4628 0.4607 0.4773 0.4642 0.5132 0.3747 0.4834 0.2244 0.4682 0.4652 0.4672 hom 4155.90 122 3 11887991 . C G 4155.90 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8947;MQ=59.40;MQ0=0;QD=34.06;VQSLOD=8.8947;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4155,325,0 3 12046076 12046076 T C exonic SYN2 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 0.9999 1 1 . . . . . rs2618395 COSN15632952 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 335.92 13 3 12046076 . T C 335.92 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.20;MQ0=0;QD=25.84;VQSLOD=6.5748;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,12:13:30.07:369,30,0 3 12232074 12232074 A G exonic SYN2 unknown UNKNOWN 0.96 0.98 0.95 1. 0.91 0.95 0.9328 0.9728 0.9643 0.9999 0.9308 0.9083 0.9346 0.9516 0.93 0.98 0.9 0.96 . rs310764 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9340 0.9762 0.9643 0.9472 0.9999 0.9365 0.9027 0.9328 0.9515 0.9364 0.9738 0.9581 0.94 1 0.9425 0.9053 0.9327 hom 6040.78 175 3 12232074 . A G 6040.78 Mask AC=2;AF=1.00;AN=2;DP=175;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7486;MQ=59.76;MQ0=0;QD=34.52;VQSLOD=6.7441;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:6040,484,0 3 12393125 12393125 C G exonic PPARG nonsynonymous SNV PPARG:NM_015869:exon1:c.C34G:p.P12A 0.07 0.0053 0.12 0.026 0.12 0.12 0.1101 0.0196 0.1279 0.0433 0.1637 0.1222 0.1035 0.1199 0.091 0.026 0.12 0.065 0.11 rs1801282 COSM4987222 6(soft_tissue) Likely benign|Likely benign|Likely benign|Likely benign not_specified|Diabetes_Mellitus\x2c_Noninsulin-Dependent\x2c_with_Acanthosis_Nigricans_and_Hypertension|Familial_partial_lipodystrophy|Obesity RCV000118044.2|RCV000300998.1|RCV000336176.1|RCV000406618.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN069127|C0271694:ORPHA98306:49292002|C0028754:601665:ORPHA71529:414916001 Type 2 diabetes 0.88 . 17463249 rs1801282 2E-6 0.015 0.524 D 0.0 0.026 B 0.0 0.013 B 0.541 0.115 N 0.959 0.588 P 0.695 0.181 N -2.99 0.921 D -0.05 0.078 N 0.154 0.184 -0.726 0.592 T 0.019 0.080 T . . . 2.658 0.381 20.6 0.977 0.352 0.540 0.293 D c -0.287 -0.113 1.000 0.489 0.447 0.083 0 2.93 0.329 0.395 0.204 0.935 0.490 1.000 0.715 0.879 0.368 5.341 0.152 . ENSG00000132170.15|ENSG00000157152.12 Heart_Left_Ventricle|Muscle_Skeletal 0.1112 0.0196 0.1207 0.0564 0.0390 0.1666 0.1240 0.1076 0.1184 0.1003 0.0242 0.0969 0.0762 0.0427 0.1663 0.1322 0.1602 het 1054.58 78 3 12393125 . C G 1054.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.817;DP=78;Dels=0.00;FS=0.897;HRun=0;HaplotypeScore=0.9332;MQ=59.70;MQ0=0;MQRankSum=-1.241;QD=13.52;ReadPosRankSum=-1.033;VQSLOD=6.1454;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,46:78:99:1085,0,867 3 12475557 12475557 C T exonic PPARG synonymous SNV PPARG:NM_005037:exon7:c.C1347T:p.H449H,PPARG:NM_015869:exon7:c.C1431T:p.H477H,PPARG:NM_138711:exon8:c.C1347T:p.H449H,PPARG:NM_138712:exon8:c.C1347T:p.H449H 0.13 0.048 0.11 0.21 0.12 0.16 0.1340 0.0653 0.1146 0.2388 0.2024 0.1254 0.1280 0.1437 0.11 0.064 0.13 0.098 0.11 rs3856806 COSM4002430 2(haematopoietic_and_lymphoid_tissue);5(soft_tissue) Benign|Likely benign|Likely benign|Likely benign|Likely benign Glioma_susceptibility_1|not_specified|Diabetes_Mellitus\x2c_Noninsulin-Dependent\x2c_with_Acanthosis_Nigricans_and_Hypertension|Familial_partial_lipodystrophy|Obesity RCV000008615.3|RCV000118043.2|RCV000276900.1|RCV000331945.1|RCV000371595.1 MedGen:OMIM|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT C2750850:137800|CN169374|CN069127|C0271694:ORPHA98306:49292002|C0028754:601665:ORPHA71529:414916001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1348 0.0624 0.1094 0.0730 0.2412 0.2005 0.1266 0.1196 0.1434 0.1316 0.0677 0.0883 0.0762 0.2519 0.1952 0.1422 0.1673 het 994.31 98 3 12475557 . C T 994.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.391;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=58.79;MQ0=0;MQRankSum=-0.857;QD=10.15;ReadPosRankSum=-0.004;VQSLOD=6.0644;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,40:98:99:1024,0,1597 3 12613866 12613866 T C exonic MKRN2 synonymous SNV MKRN2:NM_001271707:exon3:c.T507C:p.H169H,MKRN2:NM_014160:exon4:c.T636C:p.H212H 0.55 0.96 0.66 0.13 0.62 0.28 0.5700 0.9101 0.6598 0.1165 0.5797 0.5999 0.5797 0.3206 0.7 0.89 0.6 0.64 0.65 rs2648307 COSM4415784 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5539 0.9181 0.6554 0.5766 0.1145 0.5888 0.5968 0.5808 0.2942 0.6591 0.9078 0.6551 0.6026 0.1016 0.5997 0.5935 0.5990 het 412.53 42 3 12613866 . T C 412.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.196;DP=42;Dels=0.00;FS=7.314;HRun=0;HaplotypeScore=1.7870;MQ=58.09;MQ0=0;MQRankSum=0.088;QD=9.82;ReadPosRankSum=-2.103;VQSLOD=3.7475;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,20:42:99:443,0,558 3 12623713 12623713 C G exonic MKRN2 synonymous SNV MKRN2:NM_001271707:exon7:c.C1083G:p.L361L,MKRN2:NM_014160:exon8:c.C1212G:p.L404L 0.0004 . 0.0014 . 0.001 . 0.0015 0.0003 0.0002 0 0.0014 0.0025 0 0 0.0004 0.0002 0.0005 . . rs188762040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0003 0.0003 0 0 0.0014 0.0023 0.0004 0 0.0011 0.0001 0.0012 0 0 0.0006 0.0018 0.0020 het 4113.56 245 3 12623713 . C G 4113.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.571;DP=245;DS;Dels=0.00;FS=1.544;HRun=0;HaplotypeScore=8.2003;MQ=59.83;MQ0=0;MQRankSum=0.142;QD=16.79;ReadPosRankSum=-0.039;VQSLOD=2.3957;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,118:245:99:3457,0,3582 3 12856856 12856856 A G exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon6:c.A944G:p.Q315R,CAND2:NM_001162499:exon8:c.A1223G:p.Q408R 0.58 0.97 0.5 0.29 0.66 0.31 0.5526 0.9182 0.3656 0.2792 0.5642 0.6173 0.5135 0.3449 0.72 0.91 0.62 0.67 0.64 rs2305398 COSM5021369;COSM5021370 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.027 0.258 N 1 0.090 P -1.01 0.011 N -0.13 0.648 T 2.18 0.003 N 0.014 0.002 -0.975 0.362 T 0.000 0.000 T . . . -0.382 0.063 0.427 0.117 0.002 0.139 0.179 N c -0.999 -0.761 0.999 0.398 0.696 0.567 0 3.85 0.434 0.632 0.241 -0.328 0.075 0.995 0.385 0.009 0.108 7.173 0.247 Armadillo-like helical|Armadillo-type fold;Armadillo-type fold ENSG00000213943.3|ENSG00000272263.1|ENSG00000144712.7|ENSG00000213943.3|ENSG00000144712.7 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.5393 0.9227 0.3807 0.5918 0.2756 0.5725 0.6170 0.5614 0.3430 0.6709 0.9083 0.4236 0.5828 0.2931 0.5762 0.6185 0.5560 het 1187.39 88 3 12856856 . A G 1187.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.840;DP=88;Dels=0.00;FS=0.904;HRun=1;HaplotypeScore=5.5269;MQ=59.21;MQ0=0;MQRankSum=-2.059;QD=13.49;ReadPosRankSum=-1.023;VQSLOD=3.9631;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,46:88:99:1217,0,1226 3 12857493 12857493 C T exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon7:c.C1148T:p.P383L,CAND2:NM_001162499:exon9:c.C1427T:p.P476L 0.32 0.32 0.37 0.18 0.58 0.19 0.4258 0.3390 0.2902 0.1609 0.5130 0.5345 0.4058 0.2359 0.47 0.35 0.53 0.33 0.53 rs2305397 COSM1418693;COSM1418692 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.144 0.279 T 0.005 0.258 B 0.009 0.324 B 0.000 0.537 D 0.000 0.588 P 1.5 0.380 L 2.79 0.112 T -5.47 0.856 D 0.204 0.250 -0.928 0.445 T 0.000 0.000 T . . . 3.986 0.536 23.6 0.952 0.259 0.908 0.520 D c 0.056 0.149 1.000 0.747 0.632 0.408 0 5.12 0.693 7.801 0.844 0.935 0.490 1.000 0.715 0.992 0.562 16.085 0.808 Armadillo-like helical|Armadillo-type fold ENSG00000213943.3|ENSG00000272263.1|ENSG00000144712.7|ENSG00000213943.3|ENSG00000144712.7 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.4201 0.3350 0.3009 0.4748 0.1646 0.5156 0.5340 0.4518 0.2324 0.4550 0.3420 0.3397 0.4866 0.1689 0.5186 0.5421 0.4643 het 1583.14 115 3 12857493 . C T 1583.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.696;DP=115;Dels=0.00;FS=2.838;HRun=1;HaplotypeScore=2.5586;MQ=59.60;MQ0=0;MQRankSum=0.243;QD=13.77;ReadPosRankSum=1.016;VQSLOD=6.4592;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,59:115:99:1613,0,1702 3 12858028 12858028 T C exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon8:c.T1318C:p.S440P,CAND2:NM_001162499:exon10:c.T1597C:p.S533P 0.6 0.96 0.49 0.44 0.62 0.36 0.5541 0.8987 0.4110 0.4353 0.5438 0.5869 0.5089 0.3859 0.69 0.89 0.59 0.72 0.61 rs3732675 COSM1484577;COSM445535 1(breast);1(pancreas);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.425 N 0.997 0.226 P -1.415 0.006 N -0.06 0.636 T 3.56 0.001 N 0.061 0.045 -0.947 0.415 T 0.000 0.000 T . . . 0.439 0.136 6.949 0.211 0.008 0.123 0.170 N c -0.853 -0.583 1.000 0.454 0.732 0.924 0 4.25 0.495 1.752 0.377 0.069 0.176 1.000 0.715 0.997 0.653 7.327 0.256 Armadillo-like helical|Armadillo-type fold ENSG00000213943.3|ENSG00000272263.1|ENSG00000144712.7|ENSG00000213943.3|ENSG00000144712.7 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.5408 0.9026 0.4190 0.5415 0.4251 0.5489 0.5870 0.5464 0.3845 0.6583 0.8861 0.4390 0.5331 0.4528 0.5505 0.5949 0.5441 het 1508.70 104 3 12858028 . T C 1508.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.690;DP=104;Dels=0.00;FS=5.260;HRun=1;HaplotypeScore=2.0508;MQ=59.15;MQ0=0;MQRankSum=0.973;QD=14.51;ReadPosRankSum=-0.433;VQSLOD=5.4473;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,54:104:99:1539,0,1378 3 12859004 12859004 A C exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon8:c.A2294C:p.H765P,CAND2:NM_001162499:exon10:c.A2573C:p.H858P 0.57 0.97 0.48 0.29 0.64 0.33 0.5420 0.9141 0.3590 0.2780 0.5489 0.5981 0.5034 0.3591 0.7 0.91 0.6 0.69 0.5 rs3732678 COSM3759715;COSM3759714 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.488 0.085 T 0.0 0.026 B 0.0 0.013 B 0.204 0.165 N 1.000 0.090 P 0 0.065 N -0.11 0.645 T 1.65 0.007 N 0.036 0.019 -0.992 0.320 T 0.000 0.000 T . . . 1.459 0.238 13.10 0.716 0.094 0.129 0.174 N c -0.591 -0.348 0.995 0.341 0.718 0.821 0 3.88 0.438 2.855 0.478 0.014 0.141 0.992 0.373 0.998 0.697 10.525 0.439 Armadillo-like helical|Armadillo-type fold ENSG00000213943.3|ENSG00000272263.1|ENSG00000144712.7|ENSG00000213943.3|ENSG00000144712.7 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.5283 0.9191 0.3721 0.5807 0.2751 0.5542 0.5974 0.5472 0.3577 0.6601 0.9050 0.4199 0.5795 0.2917 0.5576 0.6028 0.5543 het 833.78 80 3 12859004 . A C 833.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.933;DP=80;Dels=0.00;FS=9.714;HRun=2;HaplotypeScore=2.7318;MQ=59.01;MQ0=0;MQRankSum=-0.624;QD=10.42;ReadPosRankSum=0.329;VQSLOD=3.7832;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,32:80:99:864,0,1307 3 12861586 12861586 T C exonic CAND2 synonymous SNV CAND2:NM_012298:exon9:c.T2667C:p.G889G,CAND2:NM_001162499:exon11:c.T2946C:p.G982G 0.15 0.045 0.3 0.12 0.18 0.18 0.1869 0.0683 0.4136 0.1132 0.1329 0.1801 0.16 0.1877 0.14 0.058 0.18 0.076 0.16 rs4684883 COSM4002443;COSM4002444 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1964 0.0633 0.3974 0.2325 0.1098 0.1319 0.1798 0.2069 0.1858 0.1397 0.0653 0.3449 0.22 0.1110 0.1328 0.1715 0.1864 het 1429.82 131 3 12861586 . T C 1429.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.368;DP=131;Dels=0.00;FS=6.044;HRun=1;HaplotypeScore=2.8884;MQ=58.67;MQ0=0;MQRankSum=1.582;QD=10.91;ReadPosRankSum=-1.965;VQSLOD=4.3550;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,59:131:99:1460,0,1762 3 12861608 12861608 G A exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon9:c.G2689A:p.V897I,CAND2:NM_001162499:exon11:c.G2968A:p.V990I 0.14 0.026 0.29 0.12 0.17 0.17 0.1795 0.0406 0.4149 0.1076 0.1306 0.1738 0.1556 0.1783 0.13 0.034 0.17 0.076 0.13 rs3817121 COSM4002445;COSM4002446 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.051 0.398 T 0.468 0.438 P 0.065 0.389 B 0.004 0.343 N 0.000 0.588 P 2.38 0.688 M 1.8 0.253 T -0.79 0.219 N 0.244 0.298 -0.958 0.395 T 0.000 0.000 T . . . 4.031 0.542 23.7 0.998 0.910 0.984 0.819 D c 0.290 0.371 1.000 0.747 0.701 0.575 0 5.09 0.685 5.685 0.676 1.048 0.713 1.000 0.715 0.931 0.405 15.982 0.798 Armadillo-like helical|Armadillo-type fold . . 0.1899 0.0362 0.3980 0.2303 0.1062 0.1295 0.1730 0.1992 0.1768 0.1286 0.0404 0.3425 0.2152 0.1062 0.1297 0.1650 0.1813 het 1772.86 168 3 12861608 . G A 1772.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.391;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3411;MQ=58.41;MQ0=0;MQRankSum=0.666;QD=10.55;ReadPosRankSum=-0.168;VQSLOD=5.3903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,74:168:99:1803,0,2200 3 12875443 12875443 G A exonic CAND2 nonsynonymous SNV CAND2:NM_012298:exon13:c.G3322A:p.A1108T,CAND2:NM_001162499:exon15:c.G3673A:p.A1225T 0.45 0.29 0.52 0.45 0.63 0.44 0.5556 0.3253 0.5986 0.4230 0.5894 0.6233 0.54 0.4446 0.54 0.36 0.63 0.41 0.63 rs12629133 COSM4157241;COSM4157242 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.466 0.112 T 0.0 0.067 B 0.0 0.063 B 0.679 0.103 N 1 0.090 P 0.14 0.088 N 3.69 0.042 T -0.25 0.116 N 0.023 0.006 -1.063 0.109 T 0.000 0.000 T . . . 0.098 0.103 3.584 0.779 0.116 0.346 0.249 N c -1.293 -1.236 1.000 0.747 0.646 0.442 0 2.05 0.257 0.724 0.254 -0.392 0.064 0.020 0.195 0.095 0.187 11.276 0.482 Armadillo-like helical|Armadillo-type fold|TATA-binding protein interacting (TIP20) . . 0.5622 0.3224 0.5901 0.6334 0.4246 0.5946 0.6258 0.5977 0.4449 0.5195 0.3307 0.5682 0.5894 0.4248 0.6015 0.6135 0.5592 het 1308.14 143 3 12875443 . G A 1308.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.006;DP=143;Dels=0.00;FS=2.236;HRun=0;HaplotypeScore=1.8824;MQ=59.38;MQ0=0;MQRankSum=1.413;QD=9.15;ReadPosRankSum=-0.720;VQSLOD=6.3136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,58:143:99:1338,0,2136 3 12962074 12962074 G A exonic IQSEC1 nonsynonymous SNV IQSEC1:NM_001134382:exon6:c.C1876T:p.P626S,IQSEC1:NM_001330619:exon6:c.C1552T:p.P518S,IQSEC1:NM_014869:exon6:c.C1918T:p.P640S 0.08 0.0091 0.086 0.16 0.14 0.028 0.1125 0.0268 0.0671 0.1620 0.1737 0.1410 0.1162 0.0327 0.1 0.037 0.14 0.076 0.098 rs35319679 COSM3759740;COSM3759739 1(liver);1(large_intestine) . . . . . . . . . . . 0.009 0.574 D 0.614 0.637 P 0.525 0.672 P 0.000 0.843 D 0.000 0.588 P . . . 0.36 0.579 T -7.41 0.948 D 0.322 0.511 -1.153 0.009 T 0.001 0.002 T . . . 6.085 0.838 28.2 0.999 0.991 0.979 0.779 D c 0.381 0.420 1.000 0.747 0.706 0.609 0 4.59 0.561 8.012 0.881 0.953 0.551 1.000 0.715 0.941 0.415 17.373 0.872 Sec7 domain;Sec7 domain|Sec7 domain\x2c alpha orthogonal bundle . . 0.1134 0.0245 0.0704 0.0704 0.1662 0.1712 0.1444 0.1133 0.0346 0.1136 0.0301 0.0788 0.0563 0.1726 0.1695 0.1457 0.1163 het 2142.37 143 3 12962074 . G A 2142.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.113;DP=143;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=2.5650;MQ=60.00;MQ0=0;MQRankSum=0.669;QD=14.98;ReadPosRankSum=0.151;VQSLOD=6.0270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,74:143:99:2172,0,1931 3 13361287 13361287 C T exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon37:c.G5359A:p.V1787M 0.61 0.57 0.62 0.7 0.51 0.67 0.5541 0.5590 0.6741 0.6971 0.5519 0.4916 0.5526 0.6452 0.51 0.56 0.49 0.56 0.44 rs354478 COSM5021371 1(bone) . . . . . . . . . . . 0.242 0.176 T 0.0 0.026 B 0.0 0.013 B 0.237 0.158 N 1 0.090 P -2.14 0.001 N 3.56 0.047 T 0.68 0.022 N 0.009 0.001 -1.041 0.170 T 0.000 0.000 T . . . 0.902 0.180 10.09 0.927 0.216 0.058 0.116 N c -1.415 -1.285 0.020 0.133 0.732 0.924 0 -1.13 0.092 -0.061 0.116 -0.859 0.029 0.455 0.264 0.585 0.286 1.046 0.015 . ENSG00000132182.7|ENSG00000132182.7|ENSG00000132182.7 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Nerve_Tibial 0.5559 0.5571 0.6626 0.4565 0.6964 0.5440 0.4910 0.5177 0.6429 0.5327 0.5507 0.6094 0.4533 0.7077 0.5287 0.5013 0.5348 het 706.53 48 3 13361287 . C T 706.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.067;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3604;MQ=58.73;MQ0=0;MQRankSum=1.138;QD=14.72;ReadPosRankSum=-1.138;VQSLOD=5.5221;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,29:48:99:737,0,478 3 13361391 13361391 A G exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon37:c.T5255C:p.L1752S 0.89 0.97 0.85 0.99 0.73 0.88 0.7872 0.9413 0.8701 0.9947 0.7106 0.7129 0.7544 0.8556 0.79 0.94 0.71 0.79 0.67 rs354479 COSM4157282 1(thyroid) . . . . . . . . . . . 0.381 0.111 T 0.0 0.026 B 0.0 0.013 B 0.002 0.367 N 1 0.090 P -1.575 0.004 N 3.48 0.052 T -0.08 0.082 N 0.094 0.094 -0.983 0.343 T 0.000 0.000 T . . . 0.914 0.181 10.16 0.777 0.116 0.138 0.179 N c -0.911 -0.746 0.242 0.186 0.745 0.986 0 4.69 0.584 3.322 0.515 -0.247 0.091 0.668 0.281 0.000 0.016 11.569 0.499 . . . 0.7866 0.9461 0.8667 0.6910 0.9953 0.7134 0.7155 0.7349 0.8535 0.7920 0.9353 0.7919 0.7450 0.9975 0.6982 0.7118 0.7485 het 1211.12 98 3 13361391 . A G 1211.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.091;DP=98;Dels=0.00;FS=6.799;HRun=0;HaplotypeScore=4.0970;MQ=57.05;MQ0=0;MQRankSum=0.344;QD=12.36;ReadPosRankSum=-1.388;VQSLOD=3.5759;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,44:98:99:1241,0,1271 3 13364876 13364876 G T exonic NUP210 synonymous SNV NUP210:NM_024923:exon34:c.C4701A:p.T1567T 0.56 0.37 0.61 0.7 0.51 0.67 0.5373 0.3937 0.6650 0.6969 0.5472 0.4897 0.5407 0.6428 0.46 0.4 0.49 0.47 0.42 rs514084 COSM4415968 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5427 0.3905 0.6510 0.4552 0.6965 0.5443 0.4894 0.5082 0.6402 0.4884 0.3967 0.5974 0.4536 0.7083 0.5284 0.5006 0.5286 het 2061.57 193 3 13364876 . G T 2061.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.164;DP=193;DS;Dels=0.00;FS=0.563;HRun=1;HaplotypeScore=2.5257;MQ=58.29;MQ0=2;MQRankSum=0.330;QD=10.68;ReadPosRankSum=-1.469;VQSLOD=5.2848;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:112,81:193:99:2092,0,3136 3 13367406 13367406 C T exonic NUP210 synonymous SNV NUP210:NM_024923:exon33:c.G4533A:p.S1511S 0.48 0.18 0.58 0.67 0.48 0.62 0.4928 0.2229 0.6385 0.6749 0.5321 0.4545 0.5121 0.6035 0.38 0.25 0.46 0.41 0.4 rs665064 COSM4415592 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5021 0.2211 0.6224 0.4146 0.6677 0.5297 0.4549 0.4724 0.6017 0.4219 0.2321 0.5800 0.4338 0.6768 0.5152 0.4693 0.4918 het 1284.93 119 3 13367406 . C T 1284.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.455;DP=119;Dels=0.00;FS=1.544;HRun=0;HaplotypeScore=4.8839;MQ=59.37;MQ0=0;MQRankSum=0.815;QD=10.80;ReadPosRankSum=0.956;VQSLOD=5.5762;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,48:119:99:1315,0,1789 3 13368892 13368892 G A exonic NUP210 synonymous SNV NUP210:NM_024923:exon32:c.C4332T:p.C1444C 0.4 0.46 0.38 0.3 0.49 0.33 0.4497 0.4766 0.3266 0.3011 0.4577 0.5092 0.4561 0.3553 0.5 0.47 0.51 0.45 0.47 rs2271509 COSM445628 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4449 0.4749 0.3389 0.5440 0.3018 0.4527 0.5081 0.4838 0.3546 0.4757 0.4790 0.3890 0.5464 0.2905 0.4710 0.4990 0.4654 het 423.13 41 3 13368892 . G A 423.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.648;DP=41;Dels=0.00;FS=3.062;HRun=0;HaplotypeScore=1.9782;MQ=59.44;MQ0=0;MQRankSum=-0.728;QD=10.32;ReadPosRankSum=-0.542;VQSLOD=6.2828;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:453,0,649 3 13379400 13379400 C T exonic NUP210 synonymous SNV NUP210:NM_024923:exon26:c.G3489A:p.E1163E 0.51 0.8 0.42 0.33 0.52 0.35 0.5085 0.7733 0.3629 0.3337 0.4837 0.5477 0.4988 0.3861 0.61 0.75 0.54 0.61 0.57 rs3773302 COSM4157285 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4924 0.7723 0.3735 0.5783 0.3350 0.4687 0.5424 0.5236 0.3793 0.5749 0.7589 0.4189 0.5629 0.3294 0.4851 0.5288 0.5051 het 447.45 49 3 13379400 . C T 447.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.251;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=2.675;QD=9.13;ReadPosRankSum=-0.641;VQSLOD=4.7562;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,20:49:99:477,0,836 3 13383540 13383540 A G exonic NUP210 synonymous SNV NUP210:NM_024923:exon22:c.T3048C:p.F1016F 0.58 0.9 0.45 0.4 0.55 0.44 0.5403 0.8549 0.3769 0.4084 0.4729 0.5647 0.5176 0.4549 0.66 0.84 0.56 0.67 0.62 rs2271504 COSM5618672 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5298 0.8586 0.3966 0.6106 0.4161 0.4759 0.5645 0.5565 0.4577 0.6157 0.8467 0.4414 0.5828 0.4047 0.4885 0.5489 0.5418 het 1314.02 114 3 13383540 . A G 1314.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.516;DP=114;Dels=0.00;FS=2.473;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.160;QD=11.53;ReadPosRankSum=1.846;VQSLOD=5.3393;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,51:114:99:1344,0,1745 3 13395579 13395579 C A exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon17:c.G2357T:p.R786L 0.58 0.9 0.45 0.4 0.55 0.44 0.5920 0.8580 0.4590 0.4829 0.5423 0.6138 0.5879 0.4862 0.66 0.83 0.57 0.66 0.48 rs2280084 COSM445629 1(pancreas);1(oesophagus) . . . . . . . . . . . 0.581 0.060 T 0.0 0.026 B 0.0 0.013 B 0.036 0.245 N 1 0.090 P -1.56 0.005 N 2.15 0.193 T 1.36 0.009 N 0.039 0.019 -1.033 0.193 T 0.000 0.000 T . . . 2.080 0.311 16.72 0.462 0.036 0.066 0.125 N c -0.903 -0.691 1.000 0.451 0.672 0.522 0 4.25 0.495 3.323 0.515 0.242 0.267 0.183 0.239 0.924 0.398 9.746 0.394 . ENSG00000132182.7|ENSG00000132182.7 Brain_Cerebellar_Hemisphere|Brain_Cerebellum 0.5264 0.8525 0.3968 0.6070 0.4181 0.4749 0.5659 0.5508 0.4528 0.6138 0.8408 0.4400 0.5861 0.4046 0.4891 0.5484 0.5419 het 96.38 11 3 13395579 . C A 96.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.825;QD=8.76;ReadPosRankSum=-0.717;VQSLOD=5.8700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:126,0,146 3 13399786 13399786 G A exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon16:c.C2264T:p.A755V 0.18 0.23 0.21 0.014 0.33 0.12 0.2616 0.2399 0.1649 0.0052 0.3095 0.3371 0.2815 0.1524 0.31 0.24 0.35 0.33 0.39 rs6795271 COSM4157286 1(thyroid) . . . . . . . . . . . 0.354 0.121 T 0.001 0.090 B 0.001 0.040 B 0.169 0.174 N 1 0.090 P -0.35 0.031 N 2.33 0.165 T 0.24 0.045 N 0.026 0.008 -0.943 0.422 T 0.000 0.000 T . . . 0.338 0.127 6.052 0.800 0.126 0.287 0.234 N c -1.289 -1.233 0.782 0.238 0.707 0.730 0 -1.59 0.080 1.111 0.306 -0.333 0.074 0.533 0.270 0.020 0.134 10.261 0.424 . . . 0.2590 0.2390 0.1749 0.3624 0.0046 0.3040 0.3345 0.3173 0.1540 0.2867 0.2474 0.2428 0.3245 0.0025 0.3204 0.3336 0.2945 het 1189.93 95 3 13399786 . G A 1189.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.875;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6611;MQ=60.00;MQ0=0;MQRankSum=0.048;QD=12.53;ReadPosRankSum=0.473;VQSLOD=4.4879;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,46:95:99:1220,0,1291 3 13407556 13407556 T C exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon14:c.A1822G:p.I608V 0.58 0.9 0.45 0.41 0.54 0.44 0.5394 0.8557 0.3764 0.4111 0.4730 0.5631 0.5188 0.4532 0.66 0.84 0.56 0.66 0.63 rs3732671 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.186 P -0.97 0.012 N 3.56 0.047 T 0.08 0.060 N 0.101 0.104 -1.008 0.274 T 0.000 0.000 T . . . -1.790 0.011 0.002 0.181 0.006 0.071 0.130 N c -1.266 -1.109 0.999 0.374 0.731 0.878 0 3.17 0.354 2.220 0.423 -0.417 0.060 0.957 0.332 0.003 0.074 7.952 0.290 . ENSG00000132182.7|ENSG00000132182.7 Brain_Cerebellar_Hemisphere|Brain_Cerebellum 0.5290 0.8593 0.3963 0.6109 0.4218 0.4757 0.5629 0.5548 0.4550 0.6158 0.8477 0.4390 0.5861 0.4133 0.4883 0.5475 0.5408 het 532.12 54 3 13407556 . T C 532.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.315;DP=54;Dels=0.00;FS=3.989;HRun=0;HaplotypeScore=0.9967;MQ=59.49;MQ0=0;MQRankSum=1.941;QD=9.85;ReadPosRankSum=0.238;VQSLOD=5.8831;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,26:54:99:562,0,734 3 13421150 13421150 C T exonic NUP210 nonsynonymous SNV NUP210:NM_024923:exon7:c.G889A:p.A297T 0.52 0.82 0.42 0.33 0.52 0.35 0.5050 0.7810 0.3592 0.3319 0.4682 0.5444 0.4834 0.3799 0.62 0.76 0.54 0.61 0.55 rs7628051 COSM5021372 1(bone) . . . . . . . . . . . 0.387 0.109 T 0.0 0.026 B 0.0 0.013 B 0.457 0.124 N 1 0.090 P 0.69 0.170 N 3.45 0.053 T -0.54 0.166 N 0.003 0.000 -1.073 0.087 T 0.000 0.000 T . . . 0.799 0.170 9.457 0.963 0.287 0.103 0.156 N c -0.863 -0.834 1.000 0.454 0.732 0.924 0 2.96 0.332 0.057 0.140 0.935 0.490 0.000 0.063 0.005 0.090 8.566 0.325 . ENSG00000132182.7|ENSG00000132182.7 Brain_Cerebellar_Hemisphere|Brain_Cerebellum 0.4952 0.7839 0.3745 0.5827 0.3366 0.4703 0.5436 0.5253 0.3822 0.5781 0.7692 0.4189 0.5629 0.3302 0.4848 0.5295 0.5071 het 1306.89 83 3 13421150 . C T 1306.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.642;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7851;MQ=60.00;MQ0=0;MQRankSum=0.361;QD=15.75;ReadPosRankSum=-1.604;VQSLOD=4.6953;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,45:83:99:1337,0,1077 3 13670481 13670481 A G exonic FBLN2 synonymous SNV FBLN2:NM_001998:exon11:c.A2505G:p.T835T,FBLN2:NM_001004019:exon12:c.A2646G:p.T882T,FBLN2:NM_001165035:exon12:c.A2646G:p.T882T 0.68 0.54 0.79 0.76 0.69 0.68 0.6923 0.5721 0.8334 0.7957 0.7328 0.6655 0.7115 0.7019 0.64 0.58 0.66 0.69 . rs2242023 COSM4157304;COSM4157303 1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6983 0.5673 0.8202 0.6153 0.7941 0.7333 0.6655 0.7020 0.6953 0.6554 0.5757 0.7661 0.6391 0.7885 0.7390 0.6604 0.6789 het 608.78 52 3 13670481 . A G 608.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.990;DP=52;Dels=0.00;FS=5.887;HRun=0;HaplotypeScore=4.3542;MQ=59.11;MQ0=0;MQRankSum=-0.010;QD=11.71;ReadPosRankSum=0.170;VQSLOD=4.8297;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:639,0,649 3 13670536 13670536 A G exonic FBLN2 nonsynonymous SNV FBLN2:NM_001998:exon11:c.A2560G:p.T854A,FBLN2:NM_001004019:exon12:c.A2701G:p.T901A,FBLN2:NM_001165035:exon12:c.A2701G:p.T901A 0.81 0.76 0.83 0.99 0.69 0.77 0.7364 0.7510 0.8728 0.9833 0.7426 0.6690 0.7437 0.7696 0.7 0.75 0.67 0.84 . rs9843344 COSM4157305;COSM4157306 1(thyroid) . . . . . . . . . . . 0.212 0.240 T 0.0 0.102 B 0.004 0.145 B 0.153 0.179 N 1 0.090 P 0.625 0.159 N -3.05 0.924 D -2.27 0.506 N 0.051 0.032 -0.983 0.343 T 0.000 0.000 T . . . -0.755 0.042 0.054 0.579 0.057 0.046 0.101 N c -1.268 -1.350 0.999 0.372 0.696 0.567 0 -4.23 0.035 0.098 0.149 -0.958 0.024 0.000 0.063 0.003 0.074 5.462 0.158 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|Growth factor receptor cysteine-rich domain ENSG00000224514.1 Testis 0.7395 0.7534 0.8567 0.6159 0.9835 0.7409 0.6686 0.7267 0.7640 0.7208 0.7574 0.8086 0.64 0.9790 0.7454 0.6630 0.7100 het 610.90 42 3 13670536 . A G 610.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.199;DP=42;Dels=0.00;FS=1.222;HRun=3;HaplotypeScore=1.6640;MQ=60.00;MQ0=0;MQRankSum=-0.430;QD=14.55;ReadPosRankSum=-1.061;VQSLOD=6.2997;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,23:42:99:641,0,479 3 13670776 13670776 T C exonic FBLN2 synonymous SNV FBLN2:NM_001998:exon12:c.T2685C:p.F895F,FBLN2:NM_001004019:exon13:c.T2826C:p.F942F,FBLN2:NM_001165035:exon13:c.T2826C:p.F942F 0.8 0.76 0.83 0.99 0.68 0.77 0.7321 0.7556 0.8677 0.9842 0.7280 0.6618 0.75 0.7693 0.69 0.75 0.65 0.85 . rs4684968 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7289 0.7534 0.8518 0.6015 0.9836 0.7199 0.6546 0.7111 0.7554 0.7119 0.7570 0.8079 0.6291 0.9790 0.7278 0.6504 0.6953 het 179.77 22 3 13670776 . T C 179.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.583;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=-1.194;QD=8.17;ReadPosRankSum=-0.307;VQSLOD=5.8801;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,8:22:99:210,0,404 3 13679203 13679203 G A exonic FBLN2 synonymous SNV FBLN2:NM_001998:exon17:c.G3339A:p.T1113T,FBLN2:NM_001004019:exon18:c.G3480A:p.T1160T,FBLN2:NM_001165035:exon18:c.G3480A:p.T1160T 0.52 0.76 0.39 0.64 0.32 0.34 0.3798 0.6885 0.3922 0.6776 0.2717 0.3129 0.3840 0.3453 0.42 0.65 0.3 0.6 . rs1061375 COSM3759787;COSM3759786 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3735 0.6976 0.3808 0.3230 0.6722 0.2783 0.3111 0.3717 0.3488 0.4281 0.6823 0.3995 0.2815 0.6815 0.2791 0.2976 0.3429 het 656.30 63 3 13679203 . G A 656.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DP=63;Dels=0.00;FS=3.698;HRun=0;HaplotypeScore=2.9806;MQ=58.89;MQ0=0;MQRankSum=0.466;QD=10.42;ReadPosRankSum=0.364;VQSLOD=6.0343;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,23:63:99:686,0,1168 3 13679335 13679335 C T exonic FBLN2 synonymous SNV FBLN2:NM_001998:exon17:c.C3471T:p.D1157D,FBLN2:NM_001004019:exon18:c.C3612T:p.D1204D,FBLN2:NM_001165035:exon18:c.C3612T:p.D1204D 0.49 0.69 0.38 0.64 0.32 0.34 0.3746 0.6085 0.3910 0.6818 0.2703 0.3144 0.3781 0.3482 0.39 0.57 0.3 0.58 . rs1061376 COSM3759788;COSM3759789 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3691 0.6144 0.3793 0.3232 0.6757 0.2785 0.3124 0.3697 0.3493 0.4052 0.6021 0.3950 0.2815 0.6848 0.2788 0.2971 0.3391 het 2219.57 194 3 13679335 . C T 2219.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.659;DP=194;Dels=0.00;FS=8.523;HRun=0;HaplotypeScore=5.7517;MQ=59.50;MQ0=0;MQRankSum=0.007;QD=11.44;ReadPosRankSum=-0.062;VQSLOD=4.6620;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:106,88:194:99:2250,0,2570 3 14154498 14154498 G A exonic CHCHD4 synonymous SNV CHCHD4:NM_001098502:exon3:c.C318T:p.P106P,CHCHD4:NM_144636:exon4:c.C357T:p.P119P . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.232e-05 0 0 0 0 0 6.667e-05 0 het 555.55 45 3 14154498 . G A 555.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.424;DP=45;Dels=0.00;FS=2.727;HRun=0;HaplotypeScore=0.0000;MQ=58.22;MQ0=0;MQRankSum=-0.402;QD=12.35;ReadPosRankSum=0.287;VQSLOD=3.6623;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,19:45:99:586,0,750 3 14174427 14174427 A T exonic TMEM43 nonsynonymous SNV TMEM43:NM_024334:exon6:c.A504T:p.K168N 0.35 0.3 0.37 0.46 0.25 0.4 0.3209 0.2861 0.4409 0.4366 0.3004 0.2792 0.3521 0.3728 0.29 0.29 0.29 0.33 0.28 rs4685076 COSM3759801 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC RCV000039387.10|RCV000242086.1|RCV000325369.1 MedGen|MedGen|MedGen CN169374|CN230736|CN239181 . . . . . . 0.219 0.190 T 0.203 0.281 B 0.123 0.309 B 0.000 0.843 D 0.017 0.399 P 2.015 0.552 M 1.3 0.356 T -0.92 0.247 N 0.122 0.137 -0.896 0.485 T 0.000 0.000 T . . . 2.489 0.360 19.40 0.994 0.637 0.854 0.442 D c -0.365 -0.241 1.000 0.425 0.707 0.730 0 1.56 0.223 0.923 0.282 0.106 0.201 1.000 0.715 1.000 0.888 7.874 0.286 . ENSG00000163528.8|ENSG00000163528.8|ENSG00000154767.10|ENSG00000228242.3|ENSG00000154767.10 Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.3251 0.2843 0.4218 0.2501 0.4396 0.3009 0.2838 0.2966 0.3720 0.2969 0.2786 0.4212 0.2682 0.4300 0.2923 0.2893 0.2740 het 1493.88 129 3 14174427 . A T 1493.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.285;DP=129;Dels=0.00;FS=0.696;HRun=0;HaplotypeScore=1.9152;MQ=59.16;MQ0=0;MQRankSum=0.158;QD=11.58;ReadPosRankSum=-1.565;VQSLOD=6.0960;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,60:129:99:1524,0,1781 3 14175262 14175262 T C exonic TMEM43 nonsynonymous SNV TMEM43:NM_024334:exon7:c.T536C:p.M179T 0.46 0.45 0.51 0.68 0.26 0.44 0.3724 0.4177 0.5811 0.6735 0.3161 0.2864 0.3855 0.4091 0.33 0.41 0.3 0.46 0.31 rs2340917 COSM3759802 1(breast);1(large_intestine) Benign|Benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC RCV000039389.10|RCV000244862.1|RCV000379959.1 MedGen|MedGen|MedGen CN169374|CN230736|CN239181 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.212 P -2.25 0.001 N 1.6 0.286 T 2.58 0.002 N 0.146 0.172 -0.943 0.421 T 0.000 0.000 T . . . 0.428 0.135 6.855 0.191 0.006 0.120 0.168 N c -0.967 -0.716 1.000 0.747 0.707 0.730 0 5.32 0.753 3.134 0.500 0.040 0.155 0.993 0.376 0.297 0.237 14.217 0.652 . ENSG00000163528.8|ENSG00000154767.10 Muscle_Skeletal|Thyroid 0.3782 0.4174 0.5584 0.2542 0.6687 0.3145 0.2909 0.3367 0.4095 0.3565 0.4188 0.5095 0.2682 0.6592 0.3033 0.2967 0.3037 het 2951.10 241 3 14175262 . T C 2951.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.281;DP=241;DS;Dels=0.00;FS=9.177;HRun=0;HaplotypeScore=6.1910;MQ=59.30;MQ0=0;MQRankSum=-1.627;QD=12.25;ReadPosRankSum=-0.371;VQSLOD=3.7224;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,122:241:99:2981,0,3049 3 14187449 14187449 G T exonic XPC nonsynonymous SNV XPC:NM_004628:exon16:c.C2815A:p.Q939K 0.68 0.75 0.72 0.67 0.6 0.68 0.6325 0.7290 0.7087 0.6449 0.7090 0.5912 0.6457 0.6510 0.64 0.73 0.6 0.45 . rs2228001 COSM4002478 1(haematopoietic_and_lymphoid_tissue) Benign|drug response|Likely benign|Benign not_specified|cisplatin_response_-_Toxicity/ADR|Cardiomyopathy\x2c_ARVC|Xeroderma_pigmentosum RCV000170436.2|RCV000211268.1|RCV000331098.1|RCV000380504.1 MedGen|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN169374|CN236502|CN239181|C0043346:ORPHA910:44600005 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.455 0.001 N 1.93 0.229 T 1.67 0.006 N 0.033 0.153 -0.955 0.400 T 0.000 0.000 T . . . 1.250 0.215 12.01 0.902 0.189 0.059 0.117 N c -0.971 -0.646 1.000 0.747 0.722 0.854 0 4.24 0.493 2.828 0.476 0.115 0.208 1.000 0.715 0.998 0.697 7.925 0.289 . ENSG00000233121.1|ENSG00000163528.8|ENSG00000170860.3 Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal 0.6342 0.7310 0.7075 0.5294 0.6392 0.6982 0.5923 0.6068 0.6471 0.6556 0.7228 0.7057 0.5629 0.6382 0.6985 0.6087 0.6337 het 684.87 70 3 14187449 . G T 684.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.320;DP=70;Dels=0.00;FS=0.960;HRun=1;HaplotypeScore=3.1005;MQ=59.01;MQ0=0;MQRankSum=-0.336;QD=9.78;ReadPosRankSum=0.055;VQSLOD=6.3382;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,28:70:99:715,0,1110 3 14193889 14193889 C T exonic XPC synonymous SNV XPC:NM_004628:exon11:c.G2061A:p.R687R 0.24 0.33 0.26 0.033 0.24 0.29 0.2734 0.3284 0.3453 0.0477 0.2508 0.2729 0.2875 0.3155 0.27 0.28 0.26 0.27 . rs2227998 COSM3759803 1(breast);1(thyroid);1(large_intestine) Benign|Benign not_specified|Xeroderma_pigmentosum RCV000122327.2|RCV000314393.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0043346:ORPHA910:44600005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2534 0.3053 0.3137 0.2351 0.0399 0.2294 0.2590 0.2395 0.2881 0.2561 0.2989 0.3022 0.2649 0.0358 0.2282 0.2603 0.2321 het 665.24 52 3 14193889 . C T 665.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.129;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=0.174;QD=12.79;ReadPosRankSum=0.890;VQSLOD=6.7190;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,28:52:99:695,0,678 3 14197987 14197987 A T exonic XPC synonymous SNV XPC:NM_004628:exon10:c.T1881A:p.A627A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs2958057 COSM4595320 1(upper_aerodigestive_tract) Benign not_specified RCV000170433.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 6215.73 197 3 14197987 . A T 6215.73 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.6553;MQ=60.00;MQ0=0;QD=31.55;VQSLOD=8.3927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:6215,482,0 3 14551444 14551444 A G exonic GRIP2 unknown UNKNOWN 0.71 0.64 0.69 0.79 0.57 0.88 0.6373 0.6093 0.6413 0.6952 0.4499 0.5624 0.6594 0.8214 0.6 0.64 0.58 0.65 . rs9845816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6178 0.5978 0.6970 0.5657 0.7385 0.4841 0.5504 0.6032 0.8237 0.6069 0.6454 0.6974 0.5298 0.7568 0.4971 0.5915 0.5898 het 98.22 11 3 14551444 . A G 98.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.186;DP=11;Dels=0.00;FS=2.808;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=-2.637;QD=8.93;ReadPosRankSum=1.408;VQSLOD=4.0588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:128,0,131 3 14555216 14555216 T C exonic GRIP2 unknown UNKNOWN 0.66 0.59 0.67 0.77 0.55 0.75 0.6175 0.6075 0.7204 0.7708 0.4818 0.5708 0.6031 0.7086 0.56 0.59 0.55 0.65 . rs4685171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5999 0.5894 0.7012 0.5173 0.7605 0.4657 0.5544 0.5798 0.6961 0.5612 0.5887 0.6615 0.4933 0.7441 0.4579 0.5469 0.5367 het 377.23 31 3 14555216 . T C 377.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.894;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8920;MQ=59.25;MQ0=0;MQRankSum=-1.060;QD=12.17;ReadPosRankSum=-0.686;VQSLOD=5.4430;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,16:31:99:407,0,370 3 14561627 14561627 - G exonic;splicing GRIP2;GRIP2 NM_001080423:exon9:c.1019+1->C unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. . . rs869266924 COSM5713074 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 362.55 10 3 14561627 . A AG 362.55 Mask AC=2;AF=1.00;AN=2;DP=10;FS=0.000;HRun=2;HaplotypeScore=21.5565;MQ=62.13;MQ0=0;QD=36.26;set=variant2 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:405,30,0 3 14563258 14563258 A G exonic GRIP2 unknown UNKNOWN 0.45 0.22 0.52 0.57 0.4 0.63 0.4590 0.2395 0.5983 0.5703 0.3324 0.4258 0.4618 0.5929 0.34 0.22 0.41 0.4 . rs4234526 COSM445746 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4442 0.2235 0.5791 0.3471 0.5579 0.3126 0.4136 0.4280 0.5773 0.3634 0.2421 0.5120 0.3267 0.5335 0.3115 0.4187 0.3887 het 314.79 22 3 14563258 . A G 314.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.165;DP=22;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.165;QD=14.31;ReadPosRankSum=0.099;VQSLOD=5.8473;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,12:22:99:345,0,272 3 14712473 14712473 G A exonic CCDC174 synonymous SNV CCDC174:NM_016474:exon11:c.G1176A:p.P392P 0.35 0.46 0.46 0.23 0.35 0.23 0.3491 0.4638 0.4669 0.2379 0.4205 0.3418 0.3687 0.2527 0.38 0.46 0.34 0.3 0.39 rs1901 COSM3759814 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3543 0.4701 0.4612 0.3284 0.2402 0.4196 0.3399 0.3596 0.2563 0.3868 0.4572 0.4246 0.3477 0.2373 0.4108 0.3559 0.3755 hom 2291.57 81 3 14712473 . G A 2291.57 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=28.29;VQSLOD=8.5445;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2325,187,0 3 14724345 14724345 G A exonic C3orf20 nonsynonymous SNV C3orf20:NM_032137:exon3:c.G125A:p.G42D 0.06 0.0008 0.098 0.082 0.068 0.081 0.0660 0.0124 0.1288 0.0813 0.0736 0.0588 0.0848 0.0729 0.044 0.015 0.059 0.033 0.082 rs17040154 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D 0.000 0.486 D 0.002 0.810 P 1.495 0.376 L 1.81 0.252 T -1.41 0.348 N 0.347 0.408 -1.113 0.028 T 0.006 0.021 T . . . 6.160 0.850 28.5 0.999 0.944 0.913 0.530 D c 0.597 0.598 0.873 0.254 0.554 0.283 0 5.28 0.740 5.069 0.640 0.998 0.613 1.000 0.715 0.954 0.431 15.838 0.785 . . . 0.0689 0.0119 0.1209 0.0235 0.0858 0.0747 0.0597 0.0671 0.0754 0.0535 0.0139 0.1229 0.0132 0.0875 0.0718 0.0638 0.0804 het 2202.64 185 3 14724345 . G A 2202.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.890;DP=185;Dels=0.00;FS=7.430;HRun=0;HaplotypeScore=5.4958;MQ=59.30;MQ0=0;MQRankSum=-1.182;QD=11.91;ReadPosRankSum=0.396;VQSLOD=4.0261;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,91:185:99:2233,0,2544 3 14724413 14724413 G A exonic C3orf20 nonsynonymous SNV C3orf20:NM_032137:exon3:c.G193A:p.D65N 0.3 0.28 0.44 0.23 0.37 0.22 0.3384 0.3037 0.4633 0.2382 0.4231 0.3492 0.3667 0.2463 0.33 0.31 0.35 0.25 0.41 rs9821143 COSM3759815 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.169 0.229 T 0.385 0.327 B 0.034 0.212 B 0.771 0.095 N 1 0.206 P 0.895 0.225 L 3.3 0.064 T -0.98 0.260 N 0.015 0.002 -0.929 0.444 T 0.000 0.000 T . . . 0.629 0.154 8.358 0.942 0.238 0.013 0.046 N c -0.833 -0.894 0.000 0.050 0.487 0.133 0 0.576 0.165 -0.283 0.084 0.998 0.613 0.000 0.063 0.009 0.108 1.484 0.023 . ENSG00000154781.11|ENSG00000154781.11|ENSG00000154781.11|ENSG00000154781.11|ENSG00000154781.11|ENSG00000154781.11|ENSG00000131379.5|ENSG00000154781.11|ENSG00000131379.5|ENSG00000131379.5|ENSG00000131379.5|ENSG00000154781.11|ENSG00000131379.5 Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.3469 0.3094 0.4592 0.3063 0.2400 0.4211 0.3501 0.3543 0.2491 0.3497 0.3123 0.4189 0.3278 0.2382 0.4128 0.3649 0.3535 hom 4965.71 164 3 14724413 . G A 4965.71 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.15;MQ0=0;QD=30.28;VQSLOD=8.9368;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:4965,382,0 3 14939479 14939479 G T exonic FGD5 synonymous SNV FGD5:NM_001320276:exon6:c.G2943T:p.L981L,FGD5:NM_152536:exon6:c.G2943T:p.L981L 0.68 0.76 0.69 0.59 0.71 0.63 0.6915 0.7522 0.6795 0.5697 0.7098 0.7161 0.6514 0.6225 0.74 0.76 0.72 0.71 . rs2164356 COSM4157360 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6891 0.7519 0.6815 0.5908 0.5654 0.7087 0.7265 0.6970 0.6163 0.7264 0.7587 0.6823 0.5331 0.5558 0.7054 0.7377 0.7198 hom 4263.53 127 3 14939479 . G T 4263.53 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7128;MQ=59.85;MQ0=0;QD=33.57;VQSLOD=9.4404;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4263,337,0 3 15276541 15276541 A G exonic CAPN7 synonymous SNV CAPN7:NM_014296:exon12:c.A1296G:p.K432K 0.051 0.0091 0.091 . 0.1 0.079 0.0883 0.0280 0.0721 0.0002 0.1038 0.1107 0.0985 0.0869 0.08 0.029 0.11 0.022 0.13 rs17539942 COSM5619288 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0889 0.0258 0.0736 0.1398 0.0005 0.1111 0.1082 0.0929 0.0826 0.0823 0.0314 0.0801 0.1821 0.0006 0.1082 0.1131 0.0765 het 924.55 92 3 15276541 . A G 924.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.374;DP=92;Dels=0.00;FS=0.841;HRun=2;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=-0.313;QD=10.05;ReadPosRankSum=0.892;VQSLOD=6.3941;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,38:92:99:955,0,1530 3 15311325 15311325 A G exonic SH3BP5 synonymous SNV SH3BP5:NM_004844:exon4:c.T390C:p.R130R 0.51 0.62 0.47 0.19 0.69 0.53 0.5919 0.6204 0.3689 0.1621 0.6338 0.6855 0.625 0.5590 0.66 0.61 0.69 0.56 0.61 rs1287467 COSM4002492 1(bone);1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5846 0.6190 0.3852 0.7241 0.1657 0.6392 0.6885 0.6376 0.5490 0.6231 0.6254 0.4475 0.7682 0.1726 0.6246 0.6758 0.6431 hom 7485.87 248 3 15311325 . A G 7485.87 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7203;MQ=59.49;MQ0=0;QD=30.18;VQSLOD=6.1563;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7484,605,0 3 15476011 15476011 C G exonic EAF1 synonymous SNV EAF1:NM_033083:exon4:c.C492G:p.P164P 0.21 0.014 0.24 0.29 0.25 0.32 0.2531 0.0473 0.2642 0.3005 0.3093 0.2644 0.2346 0.2828 0.19 0.056 0.26 0.2 0.22 rs1563415 COSM4002493 1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2565 0.0442 0.2551 0.2339 0.2973 0.3068 0.2643 0.2333 0.2871 0.2175 0.0495 0.2422 0.2119 0.2726 0.3146 0.2828 0.2576 hom 7519.31 226 3 15476011 . C G 7519.31 Mask AC=2;AF=1.00;AN=2;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3219;MQ=59.28;MQ0=0;QD=33.27;VQSLOD=8.3440;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7518,608,0 3 15737689 15737689 G A exonic ANKRD28 synonymous SNV ANKRD28:NM_001195099:exon13:c.C1059T:p.N353N,ANKRD28:NM_001349280:exon14:c.C1353T:p.N451N,ANKRD28:NM_001195098:exon15:c.C1059T:p.N353N,ANKRD28:NM_001349277:exon15:c.C1620T:p.N540N,ANKRD28:NM_001349278:exon15:c.C1611T:p.N537N,ANKRD28:NM_001349281:exon15:c.C1353T:p.N451N,ANKRD28:NM_001349282:exon15:c.C1353T:p.N451N,ANKRD28:NM_001349283:exon15:c.C1059T:p.N353N,ANKRD28:NM_015199:exon15:c.C1521T:p.N507N,ANKRD28:NM_001349279:exon16:c.C1512T:p.N504N 0.47 0.36 0.63 0.35 0.6 0.48 0.6043 0.4507 0.6935 0.4566 0.6530 0.6483 0.5926 0.5162 0.54 0.42 0.6 0.37 . rs2470548 COSM5426202 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5633 0.3903 0.6456 0.6556 0.3539 0.6165 0.5982 0.5879 0.4797 0.5283 0.3928 0.6550 0.6267 0.3256 0.6261 0.5928 0.5986 hom 595 21 3 15737689 . G A 595 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.33;VQSLOD=12.9977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:48.15:628,48,0 3 15737698 15737698 T C exonic ANKRD28 synonymous SNV ANKRD28:NM_001195099:exon13:c.A1050G:p.Q350Q,ANKRD28:NM_001349280:exon14:c.A1344G:p.Q448Q,ANKRD28:NM_001195098:exon15:c.A1050G:p.Q350Q,ANKRD28:NM_001349277:exon15:c.A1611G:p.Q537Q,ANKRD28:NM_001349278:exon15:c.A1602G:p.Q534Q,ANKRD28:NM_001349281:exon15:c.A1344G:p.Q448Q,ANKRD28:NM_001349282:exon15:c.A1344G:p.Q448Q,ANKRD28:NM_001349283:exon15:c.A1050G:p.Q350Q,ANKRD28:NM_015199:exon15:c.A1512G:p.Q504Q,ANKRD28:NM_001349279:exon16:c.A1503G:p.Q501Q 0.41 0.16 0.61 0.35 0.6 0.48 0.5857 0.2610 0.6784 0.4548 0.6510 0.6455 0.5773 0.5139 0.47 0.22 0.59 0.29 . rs2470549 COSM5426203 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5499 0.2144 0.6348 0.6541 0.3534 0.6164 0.5972 0.5803 0.4787 0.4773 0.2162 0.6382 0.6225 0.3266 0.6264 0.5923 0.5895 hom 608.70 20 3 15737698 . T C 608.70 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.43;VQSLOD=13.7995;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.16:642,48,0 3 16254172 16254172 G A exonic GALNT15 nonsynonymous SNV GALNT15:NM_001319051:exon6:c.G1294A:p.A432T,GALNT15:NM_054110:exon6:c.G1294A:p.A432T 0.15 0.34 0.16 0.002 0.11 0.094 0.1170 0.3092 0.1255 0.0007 0.0883 0.1072 0.1013 0.1030 0.18 0.29 0.12 0.28 0.12 rs17851238 . . . . . . . . . . . . . 0.369 0.116 T 0.651 0.388 P 0.154 0.327 B 0.935 0.084 N 0.730 0.298 P 0.71 0.187 N 0.28 0.591 T -1.07 0.291 N 0.29 0.349 -1.021 0.235 T 0.000 0.000 T . . . 1.825 0.280 15.13 0.986 0.428 0.892 0.493 D c -0.028 0.056 0.995 0.339 0.516 0.203 0 4.47 0.536 3.466 0.526 0.974 0.594 1.000 0.715 0.033 0.150 15.503 0.753 Nucleotide-diphospho-sugar transferases . . 0.1136 0.3092 0.1242 0.1384 0.0006 0.0878 0.1079 0.1041 0.1010 0.1600 0.302 0.1086 0.1258 0.0012 0.0890 0.1179 0.1141 het 1515.18 123 3 16254172 . G A 1515.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.494;DP=123;Dels=0.00;FS=3.363;HRun=0;HaplotypeScore=2.3046;MQ=59.15;MQ0=0;MQRankSum=0.058;QD=12.32;ReadPosRankSum=0.741;VQSLOD=6.1424;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,60:123:99:1545,0,1798 3 16268974 16268974 T A exonic GALNT15 synonymous SNV GALNT15:NM_001319052:exon5:c.T477A:p.R159R,GALNT15:NM_054110:exon10:c.T1887A:p.R629R 0.36 0.53 0.39 0.2 0.39 0.25 0.3540 0.4962 0.3655 0.1998 0.3038 0.3719 0.3491 0.2850 0.41 0.49 0.38 0.38 0.32 rs15767 COSM1420350 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.530 P . . . . . . . . . . . -0.930 0.441 T 0.000 0.000 T . . . -0.059 0.088 2.057 0.699 0.088 0.002 0.012 N c -0.765 -0.903 0.010 0.120 0.624 0.395 0 -2.78 0.055 -0.135 0.103 -0.508 0.051 0.005 0.169 0.270 0.232 7.367 0.258 Ricin B\x2c lectin domain . . 0.3509 0.4971 0.3744 0.3508 0.1952 0.3030 0.3749 0.3815 0.2824 0.3864 0.5077 0.4175 0.3344 0.1780 0.2986 0.3611 0.3415 het 1210.09 109 3 16268974 . T A 1210.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.033;DP=109;Dels=0.00;FS=1.566;HRun=0;HaplotypeScore=0.8941;MQ=59.02;MQ0=0;MQRankSum=-0.824;QD=11.10;ReadPosRankSum=-0.398;VQSLOD=5.6308;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,50:109:99:1240,0,1492 3 16268986 16268986 C A exonic GALNT15 synonymous SNV GALNT15:NM_001319052:exon5:c.C489A:p.I163I,GALNT15:NM_054110:exon10:c.C1899A:p.I633I 0.29 0.34 0.35 0.2 0.36 0.22 0.3203 0.3329 0.3492 0.1993 0.2805 0.3503 0.3150 0.2508 0.35 0.32 0.36 0.29 0.31 rs14576 COSM3759854 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 1.447 0.237 13.03 0.746 0.104 0.137 0.178 N c -0.200 -0.268 0.989 0.317 0.624 0.395 0 5.4 0.779 1.095 0.304 0.935 0.490 0.004 0.165 0.001 0.043 15.028 0.712 Ricin B\x2c lectin domain . . 0.3207 0.3332 0.3567 0.3297 0.1949 0.2797 0.3533 0.3558 0.2477 0.3243 0.3385 0.3888 0.3212 0.1772 0.2800 0.3396 0.3125 het 1140.41 114 3 16268986 . C A 1140.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.909;DP=114;Dels=0.00;FS=3.527;HRun=2;HaplotypeScore=5.0934;MQ=58.84;MQ0=0;MQRankSum=-0.012;QD=10.00;ReadPosRankSum=2.067;VQSLOD=4.5174;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,47:114:99:1170,0,1728 3 16305674 16305674 C G exonic DPH3 synonymous SNV DPH3:NM_206831:exon2:c.G171C:p.V57V 0.43 0.31 0.47 0.48 0.43 0.53 0.4485 0.3487 0.4728 0.5146 0.3939 0.4330 0.4433 0.5434 0.4 0.35 0.42 0.42 0.34 rs14080 COSM1179801 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4405 0.3336 0.4647 0.4829 0.5056 0.3891 0.4193 0.4345 0.5332 0.4016 0.3349 0.4725 0.5265 0.5205 0.4009 0.4200 0.4211 hom 889.94 29 3 16305674 . C G 889.94 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.69;VQSLOD=13.2986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:69.22:923,69,0 3 16312564 16312564 C T exonic OXNAD1 synonymous SNV OXNAD1:NM_001330670:exon3:c.C159T:p.H53H,OXNAD1:NM_001330671:exon3:c.C159T:p.H53H,OXNAD1:NM_138381:exon3:c.C105T:p.H35H 0.42 0.26 0.47 0.48 0.43 0.54 0.4374 0.3017 0.4657 0.5071 0.3876 0.4254 0.4339 0.5354 0.39 0.31 0.42 0.42 0.36 rs842259 COSM1566608 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4397 0.2949 0.4636 0.4862 0.5026 0.3904 0.4224 0.4351 0.5349 0.3888 0.2921 0.4677 0.5265 0.5099 0.4012 0.4199 0.4196 hom 5923.14 181 3 16312564 . C T 5923.14 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.481;DP=181;DS;Dels=0.00;FS=4.357;HRun=0;HaplotypeScore=1.5777;MQ=59.69;MQ0=0;MQRankSum=1.520;QD=32.72;ReadPosRankSum=1.289;VQSLOD=4.6542;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,179:181:99:5885,450,0 3 16327855 16327855 T G exonic OXNAD1 nonsynonymous SNV OXNAD1:NM_001330670:exon5:c.T244G:p.S82A,OXNAD1:NM_001330671:exon5:c.T244G:p.S82A,OXNAD1:NM_138381:exon5:c.T190G:p.S64A 0.43 0.31 0.47 0.48 0.43 0.53 0.4417 0.3417 0.4698 0.5131 0.3870 0.4255 0.4372 0.5354 0.4 0.35 0.42 0.42 0.31 rs842274 COSM3759855 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.589 0.058 T 0.003 0.102 B 0.006 0.112 B 0.000 0.447 N 0.646 0.306 P 1.03 0.257 L 2.29 0.171 T -0.73 0.206 N 0.108 0.312 -0.911 0.467 T 0.000 0.000 T . . . 1.035 0.193 10.86 0.960 0.279 0.752 0.365 D c -0.487 -0.355 1.000 0.747 0.732 0.924 0 2.89 0.326 2.062 0.408 0.891 0.395 1.000 0.715 0.644 0.297 6.693 0.222 Ferredoxin reductase-type FAD-binding domain ENSG00000131378.9|ENSG00000154813.5|ENSG00000271964.1|ENSG00000271964.1|ENSG00000154813.5|ENSG00000154813.5|ENSG00000271964.1|ENSG00000271964.1|ENSG00000271964.1|ENSG00000271964.1|ENSG00000154813.5|ENSG00000154814.9|ENSG00000154813.5|ENSG00000271964.1|ENSG00000272529.1|ENSG00000271964.1|ENSG00000271964.1|ENSG00000154814.9 Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Whole_Blood 0.4434 0.3351 0.4670 0.4859 0.5098 0.3906 0.4225 0.4389 0.5354 0.4013 0.3332 0.4702 0.5265 0.5168 0.4006 0.4207 0.4242 hom 4501.28 150 3 16327855 . T G 4501.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.709;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6857;MQ=58.69;MQ0=0;MQRankSum=1.592;QD=30.01;ReadPosRankSum=0.632;VQSLOD=7.7158;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,148:150:99:4501,343,0 3 17053499 17053499 A G exonic PLCL2 synonymous SNV PLCL2:NM_015184:exon2:c.A2283G:p.G761G 0.62 0.67 0.58 0.63 0.53 0.67 0.5796 0.6468 0.6181 0.6502 0.6304 0.5320 0.5728 0.6457 0.56 0.63 0.53 0.58 0.43 rs4602367 COSM4002515;COSM4002514 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5807 0.6524 0.6201 0.5055 0.6494 0.6382 0.5275 0.5566 0.6431 0.5850 0.6376 0.6372 0.5 0.6623 0.6357 0.5321 0.5978 het 1743.33 119 3 17053499 . A G 1743.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.115;DP=119;Dels=0.00;FS=1.491;HRun=2;HaplotypeScore=5.9103;MQ=59.10;MQ0=0;MQRankSum=1.948;QD=14.65;ReadPosRankSum=0.395;VQSLOD=4.4481;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,66:119:99:1773,0,1411 3 17053613 17053613 C T exonic PLCL2 synonymous SNV PLCL2:NM_015184:exon2:c.C2397T:p.P799P 0.0068 0.0008 0.0043 . 0.026 0.0041 0.0146 0.0030 0.0037 0 0.0325 0.0201 0.0111 0.0076 0.015 0.0043 0.02 . 0.016 rs61751588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0144 0.0027 0.0039 0.0067 0 0.0319 0.0204 0.0139 0.0077 0.0169 0.0033 0.0072 0.0066 0 0.0306 0.0240 0.0194 het 1690.95 138 3 17053613 . C T 1690.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.145;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.87;MQ0=0;MQRankSum=0.284;QD=12.25;ReadPosRankSum=1.885;VQSLOD=5.2204;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,64:138:99:1721,0,1838 3 17208267 17208267 T C exonic TBC1D5 nonsynonymous SNV TBC1D5:NM_001349091:exon19:c.A1678G:p.I560V,TBC1D5:NM_001349080:exon20:c.A2086G:p.I696V,TBC1D5:NM_001349086:exon20:c.A1744G:p.I582V,TBC1D5:NM_001349087:exon20:c.A1678G:p.I560V,TBC1D5:NM_001349089:exon20:c.A1678G:p.I560V,TBC1D5:NM_001349073:exon21:c.A2152G:p.I718V,TBC1D5:NM_001349077:exon21:c.A2086G:p.I696V,TBC1D5:NM_001349078:exon21:c.A2086G:p.I696V,TBC1D5:NM_001349081:exon21:c.A2107G:p.I703V,TBC1D5:NM_001349083:exon21:c.A1744G:p.I582V,TBC1D5:NM_001349088:exon21:c.A1678G:p.I560V,TBC1D5:NM_001349090:exon21:c.A1678G:p.I560V,TBC1D5:NM_014744:exon21:c.A2086G:p.I696V,TBC1D5:NM_001349074:exon22:c.A2152G:p.I718V,TBC1D5:NM_001349075:exon22:c.A2152G:p.I718V,TBC1D5:NM_001349076:exon22:c.A2086G:p.I696V,TBC1D5:NM_001349079:exon22:c.A2086G:p.I696V,TBC1D5:NM_001349082:exon22:c.A1744G:p.I582V,TBC1D5:NM_001349084:exon22:c.A1744G:p.I582V,TBC1D5:NM_001349085:exon22:c.A1744G:p.I582V,TBC1D5:NM_001134381:exon23:c.A2152G:p.I718V 0.27 0.21 0.31 0.079 0.39 0.38 0.3369 0.2293 0.2601 0.0745 0.3163 0.3857 0.3414 0.4076 0.34 0.23 0.4 0.22 0.39 rs1138454 . . . . . . . . . . . . . 0.522 0.072 T 0.0 0.026 B 0.0 0.013 B 0.126 0.028 N 1 0.090 P 0 0.065 N 1.61 0.286 T 0.04 0.065 N 0.012 0.001 -1.010 0.271 T 0.000 0.000 T . . . -2.111 0.007 0.001 0.330 0.019 0.069 0.128 N c -1.796 -1.890 1.000 0.747 0.707 0.730 0 -9.41 0.005 -1.954 0.016 -0.725 0.036 0.000 0.063 0.000 0.016 4.398 0.107 . . . 0.3343 0.2216 0.2638 0.3527 0.0742 0.3208 0.3931 0.3356 0.4038 0.3158 0.2228 0.2679 0.3833 0.0759 0.3128 0.3945 0.3671 het 1084.28 108 3 17208267 . T C 1084.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DP=108;Dels=0.00;FS=1.576;HRun=0;HaplotypeScore=3.3746;MQ=59.03;MQ0=0;MQRankSum=-0.201;QD=10.04;ReadPosRankSum=-0.151;VQSLOD=6.2862;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,48:108:99:1114,0,1609 3 18427924 18427924 G T exonic SATB1 synonymous SNV SATB1:NM_001322876:exon7:c.C1170A:p.P390P,SATB1:NM_001131010:exon8:c.C1386A:p.P462P,SATB1:NM_001195470:exon8:c.C1386A:p.P462P,SATB1:NM_001322871:exon8:c.C1386A:p.P462P,SATB1:NM_001322873:exon8:c.C1386A:p.P462P,SATB1:NM_001322874:exon8:c.C1386A:p.P462P,SATB1:NM_001322875:exon8:c.C1386A:p.P462P,SATB1:NM_002971:exon8:c.C1386A:p.P462P,SATB1:NM_001322872:exon9:c.C1386A:p.P462P 0.69 0.58 0.73 0.92 0.57 0.69 0.6373 0.5839 0.8167 0.9220 0.5423 0.5728 0.6090 0.6965 0.58 0.58 0.58 0.73 0.48 rs2229261 COSM3759907 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6417 0.5817 0.8009 0.5284 0.9180 0.5363 0.5781 0.5972 0.6945 0.5986 0.5830 0.7823 0.4834 0.9157 0.5361 0.5798 0.6010 hom 3806.85 127 3 18427924 . G T 3806.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.705;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5774;MQ=59.19;MQ0=0;MQRankSum=-0.880;QD=29.98;ReadPosRankSum=-0.577;VQSLOD=7.9489;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,125:127:99:3806,313,0 3 19575232 19575232 C T exonic KCNH8 nonsynonymous SNV KCNH8:NM_144633:exon16:c.C2965T:p.P989S 0.0064 0.0015 0.0072 . 0.021 0.0041 0.0131 0.0028 0.0079 0 0.0056 0.0203 0.0088 0.0042 0.015 0.0048 0.02 0.011 0.041 rs34561654 . . . . . . . . . . . . . 0.488 0.080 T 0.0 0.026 B 0.001 0.040 B 0.135 0.185 U 0.923 0.272 N 0.82 0.209 L -4.77 0.981 D -1.86 0.435 N 0.023 0.006 0.008 0.824 D 0.620 0.866 D . . . 0.462 0.138 7.131 0.197 0.007 0.509 0.285 D c -0.426 -0.272 0.000 0.068 0.638 0.428 0 3.09 0.345 0.882 0.276 0.935 0.490 0.997 0.399 1.000 0.888 2.446 0.042 . . . 0.0135 0.0032 0.0083 0.0550 5.801e-05 0.0050 0.0190 0.0164 0.0044 0.0101 0.0038 0.0119 0.0563 0 0.0063 0.0147 0.0112 het 2836.27 207 3 19575232 . C T 2836.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.040;DP=207;Dels=0.00;FS=1.131;HRun=1;HaplotypeScore=5.9788;MQ=58.57;MQ0=0;MQRankSum=0.106;QD=13.70;ReadPosRankSum=-0.233;VQSLOD=4.4396;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,107:207:99:2866,0,2729 3 19924058 19924058 G A exonic EFHB nonsynonymous SNV EFHB:NM_144715:exon12:c.C2312T:p.T771I,EFHB:NM_001330688:exon14:c.C1922T:p.T641I 0.019 0.0023 0.019 . 0.034 0.044 0.0620 0.0100 0.0331 0.0009 0.0272 0.0770 0.0602 0.0960 0.039 0.01 0.053 0.022 . rs76398910 . . . . . . . . . . . . . 0.066 0.361 T 0.919 0.489 P 0.406 0.447 B 0.083 0.208 N 0.997 0.229 N . . . 3.1 0.237 T -2.78 0.589 D 0.071 0.118 -1.122 0.022 T 0.011 0.044 T . . . 1.977 0.298 16.06 0.997 0.781 0.968 0.710 D c 0.076 0.065 0.110 0.166 0.554 0.246 0 2.6 0.300 3.661 0.540 1.048 0.713 1.000 0.715 0.951 0.427 11.046 0.469 EF-hand domain pair . . 0.0431 0.0071 0.0211 0.0946 0.0005 0.0220 0.0520 0.0402 0.0759 0.0330 0.0076 0.0215 0.1026 0.0006 0.0215 0.0521 0.0510 het 464.67 43 3 19924058 . G A 464.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.387;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.03;MQ0=0;MQRankSum=-0.868;QD=10.81;ReadPosRankSum=-1.357;VQSLOD=5.3473;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,19:43:99:495,0,669 3 19930130 19930130 A T exonic EFHB nonsynonymous SNV EFHB:NM_144715:exon10:c.T1739A:p.M580K,EFHB:NM_001330688:exon12:c.T1349A:p.M450K 0.12 0.12 0.085 0.083 0.097 0.2 0.1609 0.1300 0.0967 0.1147 0.0746 0.1600 0.1799 0.2645 0.12 0.11 0.12 0.14 . rs76305623 COSM1318688;COSM1318689 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.664 0.046 T 0.0 0.026 B 0.002 0.093 B 0.654 0.059 N 1 0.090 P -1.525 0.005 N -0.39 0.692 T -1.23 0.320 N 0.079 0.289 -1.097 0.044 T 0.001 0.003 T . . . 1.014 0.191 10.74 0.739 0.102 0.077 0.135 N c -1.028 -0.890 1.000 0.473 0.554 0.283 0 0.447 0.157 0.794 0.264 1.199 0.960 0.001 0.137 0.807 0.338 4.697 0.121 EF-hand domain|EF-hand domain pair . . 0.1157 0.1124 0.0610 0.1736 0.0855 0.0532 0.1131 0.1149 0.2350 0.1075 0.1177 0.0778 0.1821 0.0960 0.0554 0.1146 0.1141 het 149.62 18 3 19930130 . A T 149.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.669;DP=18;Dels=0.00;FS=2.112;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.890;QD=8.31;ReadPosRankSum=1.358;VQSLOD=5.2663;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:180,0,304 3 19959756 19959756 G A exonic EFHB nonsynonymous SNV EFHB:NM_144715:exon4:c.C1145T:p.T382I,EFHB:NM_001330688:exon6:c.C755T:p.T252I 0.61 0.83 0.54 0.34 0.65 0.62 0.6296 0.8074 0.3828 0.3307 0.6858 0.6733 0.6479 0.6471 0.71 0.8 0.67 0.67 . rs2929366 . . . . . . . . . . . . . 0.564 0.069 T 0.0 0.026 B 0.001 0.040 B 0.820 0.092 N 1 0.090 P -1.4 0.006 N 1.9 0.317 T 0.73 0.021 N 0.018 0.248 -1.013 0.259 T 0.000 0.000 T . . . 0.399 0.132 6.607 0.823 0.136 0.006 0.026 N c -1.102 -1.016 0.000 0.029 0.554 0.283 0 1.58 0.224 -0.167 0.098 0.244 0.267 0.000 0.063 0.602 0.289 0.582 0.007 . ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13|ENSG00000163576.13 Adipose_Subcutaneous|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6151 0.8097 0.4026 0.6602 0.3274 0.6895 0.6682 0.6216 0.6471 0.6925 0.8086 0.4436 0.65 0.3337 0.6840 0.6823 0.6608 het 4349.58 250 3 19959756 . G A 4349.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.447;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1806;MQ=59.46;MQ0=0;MQRankSum=-0.054;QD=17.40;ReadPosRankSum=-0.637;VQSLOD=4.9506;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:110,140:250:99:3690,0,3072 3 19961330 19961330 C T exonic EFHB nonsynonymous SNV EFHB:NM_144715:exon3:c.G991A:p.V331I,EFHB:NM_001330688:exon5:c.G601A:p.V201I 0.67 0.88 0.62 0.34 0.78 0.67 0.7198 0.8822 0.4468 0.3305 0.7814 0.7880 0.7428 0.7119 0.78 0.83 0.76 0.45 . rs2931403 COSM5000463;COSM5000464 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.003 0.080 B 0.147 0.181 N 1 0.090 P -1.64 0.004 N 1.99 0.299 T 0.26 0.045 N 0.015 0.141 -0.975 0.361 T 0.000 0.000 T . . . -1.684 0.013 0.002 0.176 0.005 0.002 0.012 N c -1.932 -1.921 1.000 0.439 0.554 0.246 0 -6.78 0.016 -0.638 0.055 -0.337 0.073 0.005 0.169 0.845 0.352 0.804 0.010 . . . 0.7061 0.8809 0.4692 0.8061 0.3275 0.7856 0.7848 0.7288 0.7101 0.7801 0.8803 0.5108 0.8046 0.3350 0.7709 0.7876 0.7597 het 1198.26 110 3 19961330 . C T 1198.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.239;DP=110;Dels=0.00;FS=2.594;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.018;QD=10.89;ReadPosRankSum=0.851;VQSLOD=6.0644;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1228,0,1415 3 19961331 19961331 T C exonic EFHB synonymous SNV EFHB:NM_144715:exon3:c.A990G:p.S330S,EFHB:NM_001330688:exon5:c.A600G:p.S200S 0.2 0.32 0.12 0.11 0.15 0.23 0.1589 0.2827 0.0642 0.1080 0.1314 0.1426 0.1623 0.2512 0.0029 0.0054 0.0016 . . rs2929362 COSM3760024;COSM3760023 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1536 0.2862 0.0715 0.2440 0.1077 0.1325 0.1379 0.1397 0.2490 0.1746 0.2799 0.0811 0.2616 0.1017 0.1277 0.1377 0.1452 het 1241.76 110 3 19961331 . T C 1241.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.100;DP=110;Dels=0.00;FS=1.587;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=1.355;QD=11.29;ReadPosRankSum=0.725;VQSLOD=6.2379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1272,0,1475 3 19992432 19992432 G T exonic RAB5A synonymous SNV RAB5A:NM_001292048:exon2:c.G42T:p.T14T,RAB5A:NM_004162:exon2:c.G42T:p.T14T 0.62 0.74 0.62 0.32 0.73 0.64 0.6856 0.7450 0.4550 0.3112 0.7361 0.7613 0.6817 0.6794 0.76 0.75 0.76 0.59 0.66 rs6773437 COSM5618998 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6744 0.7467 0.4767 0.6868 0.3125 0.7409 0.7655 0.6707 0.6750 0.7300 0.7507 0.5323 0.6821 0.3148 0.7457 0.7708 0.7362 hom 2651.30 89 3 19992432 . G T 2651.30 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=29.79;VQSLOD=8.5218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2684,205,0 3 21462754 21462754 A G exonic ZNF385D synonymous SNV ZNF385D:NM_024697:exon8:c.T1140C:p.P380P 0.8 0.74 0.81 0.9 0.76 0.83 0.7835 0.7566 0.8222 0.9078 0.8104 0.7531 0.7954 0.8194 0.76 0.76 0.76 0.25 0.79 rs451242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7879 0.7533 0.8148 0.7640 0.9072 0.8184 0.7529 0.7842 0.8191 0.7812 0.76 0.8386 0.7682 0.9026 0.8202 0.7693 0.7684 hom 902.87 30 3 21462754 . A G 902.87 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=30.10;VQSLOD=8.4444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:75.22:936,75,0 3 21462787 21462787 G A exonic ZNF385D synonymous SNV ZNF385D:NM_024697:exon8:c.C1107T:p.S369S 0.92 0.98 0.94 1. 0.81 0.83 0.8557 0.9620 0.9477 0.9988 0.7682 0.8212 0.8462 0.8242 0.87 0.95 0.83 0.2 0.77 rs427233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.859 0.9642 0.9407 0.8862 0.9991 0.7750 0.8217 0.8596 0.8233 0.8681 0.9585 0.9332 0.8874 0.9988 0.7833 0.8204 0.8173 het 390.21 29 3 21462787 . G A 390.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.462;DP=29;Dels=0.00;FS=1.455;HRun=0;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;MQRankSum=-1.637;QD=13.46;ReadPosRankSum=0.109;VQSLOD=4.9649;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:420,0,412 3 23848835 23848835 A C exonic UBE2E1 nonsynonymous SNV UBE2E1:NM_003341:exon2:c.A75C:p.E25D,UBE2E1:NM_182666:exon2:c.A75C:p.E25D 0.041 0.0008 0.15 0.001 0.059 0.042 0.0619 0.0135 0.1469 0.0015 0.0773 0.0637 0.0618 0.0510 0.045 0.016 0.06 0.022 0.098 rs36060625 . . . . . . . . . . . . . 0.322 0.154 T 0.002 0.090 B 0.004 0.093 B 0.001 0.406 N 0.984 0.400 D 0.955 0.240 L -0.27 0.674 T -1.15 0.352 N 0.092 0.097 -1.140 0.014 T 0.003 0.009 T . . . 0.571 0.149 7.952 0.911 0.198 0.681 0.334 D c -0.780 -0.625 1.000 0.747 0.789 0.998 0 3.31 0.369 2.834 0.476 -0.168 0.106 1.000 0.715 0.575 0.284 5.934 0.183 Ubiquitin-conjugating enzyme/RWD-like . . 0.0659 0.0123 0.1452 0.0420 0.0012 0.0770 0.0639 0.0588 0.0510 0.0484 0.0134 0.1420 0.0467 0.0012 0.0843 0.0596 0.0593 het 1653.52 137 3 23848835 . A C 1653.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.846;DP=137;Dels=0.00;FS=1.400;HRun=0;HaplotypeScore=6.2803;MQ=58.72;MQ0=0;MQRankSum=-0.811;QD=12.07;ReadPosRankSum=-1.858;VQSLOD=3.5286;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,68:137:99:1684,0,1694 3 23934772 23934772 G A exonic NKIRAS1 synonymous SNV NKIRAS1:NM_020345:exon5:c.C393T:p.D131D 0.15 0.28 0.18 0.003 0.068 0.21 0.1073 0.2446 0.1863 0.0054 0.0962 0.0725 0.0914 0.1651 0.13 0.24 0.067 0.14 0.11 rs3762775 COSM3760033 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1072 0.2450 0.1859 0.0781 0.0057 0.0936 0.0719 0.0914 0.1598 0.1216 0.2465 0.1695 0.0728 0.0049 0.1045 0.0664 0.0878 hom 5646.33 185 3 23934772 . G A 5646.33 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.226;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=1.283;QD=30.52;ReadPosRankSum=-0.421;VQSLOD=8.8183;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,184:185:99:5612,409,0 3 24006477 24006477 T A exonic NR1D2 nonsynonymous SNV NR1D2:NM_001145425:exon6:c.T931A:p.L311M,NR1D2:NM_005126:exon6:c.T1156A:p.L386M 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 0.9999 1 1 . . . 1. 1. rs4858097 COSM4591646 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 0.9999 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 4432.99 147 3 24006477 . T A 4432.99 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8284;MQ=58.95;MQ0=0;QD=30.16;VQSLOD=7.5993;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4432,334,0 3 27297816 27297816 G C exonic NEK10 synonymous SNV NEK10:NM_152534:exon24:c.C2061G:p.T687T,NEK10:NM_199347:exon24:c.C2061G:p.T687T 0.59 0.97 0.61 0.23 0.54 0.49 0.5492 0.9126 0.6349 0.2208 0.5158 0.5346 0.5475 0.5032 0.66 0.9 0.54 0.66 0.48 rs3213930 COSM1179804;COSM1179803;COSM1179802 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5311 0.9144 0.6131 0.5525 0.2005 0.5188 0.5243 0.5305 0.4813 0.6218 0.9061 0.5916 0.5762 0.2191 0.5184 0.5334 0.5133 het 691.05 76 3 27297816 . G C 691.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.571;DP=76;Dels=0.00;FS=1.862;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;MQRankSum=0.763;QD=9.09;ReadPosRankSum=-0.026;VQSLOD=5.6522;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,32:76:99:721,0,1140 3 27332177 27332177 T C exonic NEK10 synonymous SNV NEK10:NM_152534:exon20:c.A1674G:p.G558G,NEK10:NM_199347:exon20:c.A1674G:p.G558G 0.39 0.85 0.26 0.18 0.26 0.21 0.2851 0.7581 0.2544 0.1541 0.2492 0.2618 0.2561 0.2044 0.41 0.73 0.27 0.49 . rs674303 COSM5021377;COSM5021378 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2766 0.7706 0.2503 0.2282 0.1499 0.2498 0.2672 0.2705 0.2016 0.4030 0.7557 0.2632 0.2233 0.1493 0.2408 0.2821 0.2843 het 1033.56 60 3 27332177 . T C 1033.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.524;DP=60;Dels=0.00;FS=1.076;HRun=2;HaplotypeScore=1.6643;MQ=58.05;MQ0=0;MQRankSum=0.334;QD=17.23;ReadPosRankSum=-0.334;VQSLOD=4.8236;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,37:60:99:1064,0,604 3 27424718 27424718 A G exonic SLC4A7 synonymous SNV SLC4A7:NM_001258379:exon23:c.T3132C:p.D1044D,SLC4A7:NM_001258380:exon23:c.T3117C:p.D1039D,SLC4A7:NM_001321107:exon23:c.T3132C:p.D1044D,SLC4A7:NM_001321108:exon23:c.T3144C:p.D1048D,SLC4A7:NM_001321103:exon24:c.T3516C:p.D1172D,SLC4A7:NM_001321104:exon24:c.T3477C:p.D1159D,SLC4A7:NM_001321105:exon24:c.T3477C:p.D1159D,SLC4A7:NM_001321106:exon24:c.T3465C:p.D1155D,SLC4A7:NM_003615:exon24:c.T3489C:p.D1163D 0.93 0.86 0.94 1. 0.93 0.93 0.9370 0.8740 0.9789 0.9998 0.9274 0.9360 0.9339 0.9224 0.92 0.87 0.94 0.9 0.9 rs1472256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9405 0.8744 0.9766 0.9284 0.9998 0.9243 0.9385 0.9367 0.9246 0.9240 0.8748 0.9702 0.9570 0.9994 0.9270 0.9396 0.9389 hom 3386.35 112 3 27424718 . A G 3386.35 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.33;MQ0=0;QD=30.24;VQSLOD=8.7236;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3386,259,0 3 27442336 27442336 G A exonic SLC4A7 synonymous SNV SLC4A7:NM_001258379:exon15:c.C1962T:p.N654N,SLC4A7:NM_001258380:exon15:c.C1947T:p.N649N,SLC4A7:NM_001321107:exon15:c.C1962T:p.N654N,SLC4A7:NM_001321108:exon15:c.C1974T:p.N658N,SLC4A7:NM_001321103:exon16:c.C2346T:p.N782N,SLC4A7:NM_001321104:exon16:c.C2307T:p.N769N,SLC4A7:NM_001321105:exon16:c.C2307T:p.N769N,SLC4A7:NM_001321106:exon16:c.C2295T:p.N765N,SLC4A7:NM_003615:exon16:c.C2319T:p.N773N 0.13 0.045 0.16 0.057 0.22 0.19 0.1957 0.0747 0.1986 0.0531 0.1776 0.2374 0.1865 0.1844 0.19 0.08 0.25 0.11 0.2 rs3736312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1963 0.0713 0.1948 0.2146 0.0498 0.1752 0.2434 0.2038 0.1801 0.1770 0.0710 0.2033 0.2252 0.0495 0.1731 0.2502 0.1908 het 1529.90 151 3 27442336 . G A 1529.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.374;DP=151;Dels=0.00;FS=1.297;HRun=0;HaplotypeScore=2.8511;MQ=57.91;MQ0=0;MQRankSum=-0.104;QD=10.13;ReadPosRankSum=0.100;VQSLOD=4.9566;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,66:151:99:1560,0,2006 3 27472936 27472936 C T exonic SLC4A7 nonsynonymous SNV SLC4A7:NM_001321103:exon7:c.G1003A:p.E335K,SLC4A7:NM_001321104:exon7:c.G964A:p.E322K,SLC4A7:NM_001321105:exon7:c.G964A:p.E322K,SLC4A7:NM_001321106:exon7:c.G952A:p.E318K,SLC4A7:NM_003615:exon7:c.G976A:p.E326K 0.13 0.046 0.16 0.057 0.23 0.19 0.1982 0.0750 0.2006 0.0533 0.1781 0.2410 0.1861 0.1860 0.19 0.082 0.25 0.11 0.19 rs3755652 . . . . . . . . . . . . . 0.936 0.025 T 0.012 0.151 B 0.037 0.218 B 0.016 0.281 N 0.946 0.588 P 0.55 0.145 N -1.01 0.773 T 0.01 0.069 N 0.14 0.174 -1.102 0.038 T 0.000 0.000 T . . . 1.100 0.200 11.21 0.742 0.103 0.663 0.328 D c -0.572 -0.332 1.000 0.747 0.372 0.050 0 5.12 0.693 2.533 0.451 0.100 0.199 0.996 0.391 0.761 0.325 15.793 0.781 Band 3 cytoplasmic domain ENSG00000163491.12 Heart_Left_Ventricle 0.1994 0.0724 0.1976 0.2184 0.0503 0.1763 0.2477 0.2068 0.1825 0.1795 0.0714 0.2053 0.2252 0.05 0.1734 0.2547 0.1935 het 2454.96 206 3 27472936 . C T 2454.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.867;DP=206;DS;Dels=0.00;FS=0.566;HRun=2;HaplotypeScore=6.1219;MQ=59.44;MQ0=0;MQRankSum=0.152;QD=11.92;ReadPosRankSum=1.578;VQSLOD=4.7727;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,90:206:99:2485,0,3311 3 27473066 27473066 A G exonic SLC4A7 synonymous SNV SLC4A7:NM_001321103:exon7:c.T873C:p.L291L,SLC4A7:NM_001321104:exon7:c.T834C:p.L278L,SLC4A7:NM_001321105:exon7:c.T834C:p.L278L,SLC4A7:NM_001321106:exon7:c.T822C:p.L274L,SLC4A7:NM_003615:exon7:c.T846C:p.L282L 0.16 0.17 0.18 0.058 0.23 0.19 0.2091 0.1912 0.2065 0.0534 0.1783 0.2413 0.1921 0.1866 0.23 0.19 0.25 0.22 0.2 rs13077400 COSM4005523 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2079 0.1919 0.2029 0.2185 0.0504 0.1763 0.2481 0.2124 0.1831 0.2130 0.1888 0.2124 0.2252 0.05 0.1732 0.2548 0.1976 het 2272.76 176 3 27473066 . A G 2272.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.613;DP=176;Dels=0.00;FS=3.542;HRun=0;HaplotypeScore=6.1325;MQ=59.39;MQ0=0;MQRankSum=1.094;QD=12.91;ReadPosRankSum=1.916;VQSLOD=4.4849;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,93:176:99:2303,0,2200 3 27490194 27490194 T C exonic SLC4A7 synonymous SNV SLC4A7:NM_001258379:exon3:c.A225G:p.R75R,SLC4A7:NM_001258380:exon3:c.A210G:p.R70R,SLC4A7:NM_001321103:exon3:c.A237G:p.R79R,SLC4A7:NM_001321104:exon3:c.A237G:p.R79R,SLC4A7:NM_001321105:exon3:c.A237G:p.R79R,SLC4A7:NM_001321106:exon3:c.A225G:p.R75R,SLC4A7:NM_001321107:exon3:c.A225G:p.R75R,SLC4A7:NM_001321108:exon3:c.A237G:p.R79R,SLC4A7:NM_003615:exon3:c.A210G:p.R70R 0.12 0.034 0.15 0.057 0.21 0.19 0.1847 0.0630 0.1904 0.0534 0.1727 0.2217 0.1707 0.1824 0.18 0.068 0.23 0.076 0.21 rs13096477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1862 0.0600 0.1881 0.1909 0.0504 0.1710 0.2279 0.1936 0.1795 0.1649 0.0596 0.1942 0.21 0.0501 0.1677 0.2344 0.1813 het 1376.06 140 3 27490194 . T C 1376.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.672;DP=140;Dels=0.00;FS=2.195;HRun=1;HaplotypeScore=4.3053;MQ=59.12;MQ0=0;MQRankSum=-0.751;QD=9.83;ReadPosRankSum=-0.934;VQSLOD=5.3410;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,56:140:99:1406,0,2097 3 28520417 28520417 T A exonic ZCWPW2 nonsynonymous SNV ZCWPW2:NM_001324169:exon4:c.T605A:p.L202Q,ZCWPW2:NM_001040432:exon5:c.T605A:p.L202Q 0.45 0.32 0.47 0.62 0.43 0.48 0.4350 0.3489 0.4308 0.6247 0.3834 0.4210 0.4405 0.4691 0.4 0.35 0.43 0.42 0.39 rs1563656 COSM5021379 1(bone) . . . . . . . . . . . 0.418 0.099 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 1.41 0.334 T 0.83 0.018 N 0.043 0.393 -0.960 0.392 T 0.000 0.000 T . . . -0.355 0.065 0.495 0.139 0.003 0.004 0.021 N c -1.735 -1.770 0.000 0.012 0.554 0.246 0 0.225 0.145 -0.566 0.060 0.196 0.251 0.002 0.151 0.166 0.209 . . . . . 0.4285 0.3410 0.4216 0.4015 0.6214 0.3788 0.4186 0.4377 0.4677 0.4116 0.3496 0.4496 0.4404 0.6325 0.3891 0.4249 0.4343 het 948.03 80 3 28520417 . T A 948.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.593;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=-0.168;QD=11.85;ReadPosRankSum=1.516;VQSLOD=6.4027;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:978,0,1034 3 28533658 28533658 G A exonic ZCWPW2 nonsynonymous SNV ZCWPW2:NM_001324170:exon4:c.G533A:p.R178K 0.26 0.094 0.23 0.47 0.16 0.38 0.2038 0.1034 0.2505 0.4497 0.1392 0.1510 0.2099 0.3397 0.14 0.097 0.16 0.18 0.066 rs13100556 COSM3760036 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1974 0.0941 0.2256 0.1255 0.4451 0.1460 0.1491 0.1828 0.3258 0.1567 0.0974 0.2326 0.1258 0.4504 0.1376 0.1593 0.1807 het 545.10 54 3 28533658 . G A 545.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.920;DP=54;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.8824;MQ=57.78;MQ0=0;MQRankSum=0.348;QD=10.09;ReadPosRankSum=1.438;VQSLOD=4.9300;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,24:54:99:575,0,721 3 31712393 31712393 C T exonic OSBPL10 synonymous SNV OSBPL10:NM_001174060:exon8:c.G1617A:p.P539P,OSBPL10:NM_017784:exon9:c.G1809A:p.P603P 0.57 0.85 0.41 0.68 0.37 0.37 0.4289 0.7762 0.3526 0.6748 0.3727 0.3700 0.4383 0.3947 0.49 0.76 0.36 0.6 0.39 rs3749405 COSM3760043;COSM3760044 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4194 0.7799 0.3608 0.4846 0.6777 0.3674 0.3586 0.4181 0.3970 0.4973 0.7704 0.3768 0.4934 0.6836 0.3855 0.3574 0.4012 het 1865.84 169 3 31712393 . C T 1865.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.145;DP=169;DS;Dels=0.00;FS=1.476;HRun=0;HaplotypeScore=4.0063;MQ=58.87;MQ0=0;MQRankSum=-0.770;QD=11.04;ReadPosRankSum=0.862;VQSLOD=5.6997;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:98,71:169:99:1896,0,2487 3 31725316 31725316 G A exonic OSBPL10 synonymous SNV OSBPL10:NM_001174060:exon7:c.C1344T:p.H448H,OSBPL10:NM_017784:exon8:c.C1536T:p.H512H 0.23 0.098 0.29 0.32 0.31 0.21 0.2708 0.1219 0.2606 0.3167 0.3351 0.3007 0.2731 0.2008 0.23 0.13 0.28 0.2 0.27 rs2278959 COSM4002648;COSM4002649 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2725 0.1190 0.2597 0.3229 0.3175 0.3328 0.2924 0.2924 0.2019 0.2547 0.1226 0.2727 0.3079 0.2822 0.3481 0.3013 0.3092 het 2267.75 188 3 31725316 . G A 2267.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.583;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3369;MQ=59.80;MQ0=0;MQRankSum=0.045;QD=12.06;ReadPosRankSum=0.267;VQSLOD=5.7948;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,85:188:99:2298,0,2797 3 31789582 31789582 T C exonic OSBPL10 nonsynonymous SNV OSBPL10:NM_001174060:exon4:c.A568G:p.N190D,OSBPL10:NM_017784:exon5:c.A760G:p.N254D 0.43 0.046 0.56 0.74 0.44 0.52 0.4792 0.1089 0.6919 0.7564 0.4938 0.4536 0.4459 0.5055 0.33 0.12 0.44 0.35 0.44 rs2290532 COSM4157966;COSM4157965 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.639 0.140 T 0.992 0.629 D 0.724 0.532 P 0.000 0.559 D 0.443 0.494 P 0.865 0.215 L 1.02 0.407 T -1.38 0.387 N 0.012 0.015 -1.057 0.125 T 0.000 0.000 T . . . 1.265 0.217 12.09 0.990 0.492 0.897 0.500 D c -0.132 0.012 0.998 0.367 0.706 0.609 0 4.48 0.538 5.942 0.697 1.061 0.807 1.000 0.715 0.998 0.697 11.445 0.492 . . . 0.4809 0.1004 0.6657 0.3952 0.7539 0.4747 0.4426 0.4455 0.4924 0.3728 0.1055 0.6265 0.3940 0.7609 0.4774 0.4430 0.4459 het 644.16 38 3 31789582 . T C 644.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.180;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8930;MQ=59.01;MQ0=0;MQRankSum=-0.747;QD=16.95;ReadPosRankSum=0.717;VQSLOD=5.8304;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,23:38:99:674,0,350 3 32927509 32927509 G T exonic TRIM71 synonymous SNV TRIM71:NM_001039111:exon3:c.G1104T:p.T368T 0.99 0.97 1. 1. 1. 1. 0.9980 0.9763 0.9991 1 1 1 1 1 0.99 0.98 1. 1. 1. rs6774703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9763 0.9991 1 1 1 1.0000 0.9991 1 0.9935 0.9773 0.9976 1 1 1 0.9999 1 hom 2874.56 87 3 32927509 . G T 2874.56 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8136;MQ=59.47;MQ0=0;QD=33.04;VQSLOD=9.1539;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2908,232,0 3 33055721 33055721 A G exonic GLB1 nonsynonymous SNV GLB1:NM_001135602:exon12:c.T1168C:p.C390R,GLB1:NM_000404:exon15:c.T1561C:p.C521R,GLB1:NM_001079811:exon15:c.T1471C:p.C491R,GLB1:NM_001317040:exon16:c.T1705C:p.C569R 0.93 0.74 0.97 1. 1. 1. 0.9800 0.7803 0.9877 1 1 0.9986 0.9878 0.9995 0.93 0.8 1. 0.94 0.99 rs4302331 . . Benign\x2cBenign not_specified\x2cnot_specified RCV000252845.1\x2cRCV000153326.2 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 0.751 0.037 T 0.0 0.026 B 0.0 0.013 B 0.522 0.117 N 1 0.090 P . . . -3.08 0.926 D 1.67 0.007 N 0.045 0.025 -0.966 0.380 T 0.000 0.000 T . . . 0.428 0.135 6.854 0.473 0.038 0.014 0.047 N c -0.980 -0.957 0.705 0.227 0.732 0.924 0 1.5 0.219 0.385 0.203 0.138 0.222 0.009 0.180 0.039 0.156 1.786 0.028 Galactose-binding domain-like . . 0.9831 0.7768 0.9864 0.9987 1 1 0.9985 0.9890 0.9992 0.9371 0.7810 0.9821 0.9967 1 1 0.9990 0.9918 hom 2199.91 65 3 33055721 . A G 2199.91 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.29;MQ0=0;QD=33.84;VQSLOD=9.4909;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2233,184,0 3 33135592 33135592 T C exonic TMPPE synonymous SNV TMPPE:NM_001039770:exon2:c.A96G:p.A32A 0.015 0.0038 0.017 . 0.05 0.0072 0.0284 0.0086 0.0116 0.0001 0.0450 0.0404 0.0266 0.0124 0.027 0.0093 0.036 0.033 0.09 rs61749982 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0280 0.0082 0.0127 0.0228 0.0001 0.0465 0.0411 0.0258 0.0124 0.0298 0.0097 0.0227 0.0265 0.0006 0.0478 0.0406 0.0326 het 1289.12 102 3 33135592 . T C 1289.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.812;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6555;MQ=59.22;MQ0=0;MQRankSum=1.498;QD=12.64;ReadPosRankSum=-0.520;VQSLOD=5.4093;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,48:102:99:1319,0,1515 3 33138544 33138544 A G exonic GLB1 synonymous SNV GLB1:NM_000404:exon1:c.T34C:p.L12L,GLB1:NM_001135602:exon1:c.T34C:p.L12L,GLB1:NM_001317040:exon1:c.T34C:p.L12L 0.93 0.87 0.94 1. 0.9 0.95 0.9052 0.8692 0.9595 0.9996 0.8679 0.8802 0.9066 0.9532 0.88 0.88 0.89 . 0.82 rs7614776 COSM4157973;COSM4157974 4(thyroid) other|Benign|Benign not_specified|GM1_gangliosidosis|Mucopolysaccharidosis\x2c_Type_IV RCV000078712.9|RCV000302471.1|RCV000392270.1 MedGen|MedGen:Orphanet|MedGen CN169374|C0085131:ORPHA354|CN239405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9085 0.8663 0.9597 0.9127 0.9997 0.8694 0.8795 0.9058 0.9536 0.8804 0.8707 0.9614 0.9172 0.9988 0.8741 0.8700 0.8722 het 796.51 55 3 33138544 . A G 796.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.515;DP=55;Dels=0.00;FS=3.736;HRun=0;HaplotypeScore=0.0000;MQ=57.47;MQ0=0;MQRankSum=0.480;QD=14.48;ReadPosRankSum=0.295;VQSLOD=4.4430;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,29:55:99:827,0,591 3 33138549 33138549 G A exonic GLB1 nonsynonymous SNV GLB1:NM_000404:exon1:c.C29T:p.P10L,GLB1:NM_001135602:exon1:c.C29T:p.P10L,GLB1:NM_001317040:exon1:c.C29T:p.P10L 0.43 0.071 0.57 0.49 0.65 0.54 0.5625 0.1457 0.5380 0.5149 0.5998 0.6254 0.6037 0.5766 0.47 0.16 0.62 . 0.61 rs7637099 COSM4157975;COSM4157976 1(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign|Benign not_specified|GM1_gangliosidosis|Mucopolysaccharidosis\x2c_Type_IV RCV000078711.9|RCV000340960.1|RCV000402607.1 MedGen|MedGen:Orphanet|MedGen CN169374|C0085131:ORPHA354|CN239405 . . . . . . 0.676 0.721 T 0.0 0.026 B 0.0 0.013 B 0.040 0.019 N 1 0.090 P 0.895 0.225 L -4.21 0.995 D -0.32 0.845 N 0.059 0.302 -0.791 0.557 T 0.000 0.000 T . . . 1.406 0.232 12.82 0.869 0.163 0.101 0.155 N c -1.230 -1.236 1.000 0.747 0.442 0.072 0 -0.128 0.128 0.206 0.170 -0.997 0.022 0.000 0.063 0.000 0.016 4.872 0.129 . . . 0.5676 0.1369 0.5453 0.6802 0.5147 0.5948 0.6227 0.5873 0.5771 0.4812 0.1486 0.5472 0.6755 0.5142 0.5936 0.6291 0.6094 het 805.43 56 3 33138549 . G A 805.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.255;DP=56;Dels=0.00;FS=3.757;HRun=1;HaplotypeScore=3.8182;MQ=57.51;MQ0=0;MQRankSum=1.290;QD=14.38;ReadPosRankSum=0.715;VQSLOD=4.5272;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,30:56:99:835,0,609 3 33156020 33156020 C G exonic CRTAP nonsynonymous SNV CRTAP:NM_006371:exon1:c.C451G:p.L151V 0.0002 . . . 0.001 . 0.0006 0.0003 0.0009 0 0 0.0009 0 0 . . . . . rs202118861 . . . . . . . . . . . . . 0.003 0.682 D 0.982 0.637 D 0.763 0.552 P 0.000 0.843 D 1 0.810 D 2.825 0.825 M 0.1 0.614 T -2.27 0.506 N 0.775 0.767 -0.128 0.795 T 0.305 0.676 T 0.748 0.980 D 6.052 0.833 28.0 0.998 0.860 0.970 0.719 D c 0.589 0.514 1.0 0.983 0.789 0.998 0 4.18 0.483 3.788 0.549 0.719 0.303 1.000 0.715 0.997 0.653 16.629 0.848 Tetratricopeptide-like helical domain . . 0.0005 0.0002 0.0006 0 0 0 0.0010 0.0002 0 0.0005 0.0003 0 0 0 0 0.0008 0 het 143.99 14 3 33156020 . C G 143.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.339;DP=14;Dels=0.00;FS=5.434;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.663;QD=10.29;ReadPosRankSum=1.524;VQSLOD=3.6556;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:174,0,230 3 33174156 33174156 T G exonic CRTAP synonymous SNV CRTAP:NM_006371:exon5:c.T1032G:p.T344T 0.29 0.25 0.27 0.15 0.44 0.37 0.3752 0.2652 0.1911 0.1334 0.3916 0.4438 0.4064 0.4142 0.38 0.27 0.45 0.28 0.44 rs1135127 COSM149349 1(breast);1(stomach);1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Osteogenesis_Imperfecta\x2c_Recessive RCV000246595.2|RCV000263971.1 MedGen|MedGen CN169374|CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3704 0.2637 0.2066 0.5365 0.1356 0.3949 0.4388 0.3835 0.4126 0.3602 0.2641 0.2656 0.4868 0.1346 0.3946 0.4323 0.4063 het 2023.44 177 3 33174156 . T G 2023.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.714;DP=177;Dels=0.00;FS=3.812;HRun=0;HaplotypeScore=5.1802;MQ=59.23;MQ0=0;MQRankSum=1.943;QD=11.43;ReadPosRankSum=-0.322;VQSLOD=4.4894;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,76:177:99:2053,0,2863 3 33174168 33174168 G A exonic CRTAP synonymous SNV CRTAP:NM_006371:exon5:c.G1044A:p.S348S 0.29 0.25 0.27 0.15 0.44 0.37 0.3751 0.2652 0.1911 0.1333 0.3916 0.4438 0.4064 0.4139 0.38 0.27 0.45 0.28 0.45 rs1135128 . . Benign|Benign not_specified|Osteogenesis_Imperfecta\x2c_Recessive RCV000251530.2|RCV000321518.1 MedGen|MedGen CN169374|CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3704 0.2637 0.2065 0.5365 0.1354 0.3950 0.4388 0.3833 0.4124 0.3607 0.2645 0.2649 0.4868 0.1354 0.3948 0.4329 0.4061 het 1878.56 153 3 33174168 . G A 1878.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.584;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.41;MQ0=0;MQRankSum=0.422;QD=12.28;ReadPosRankSum=-1.527;VQSLOD=6.3363;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,66:153:99:1909,0,2420 3 33194990 33194990 C A exonic SUSD5 nonsynonymous SNV SUSD5:NM_015551:exon5:c.G1134T:p.E378D 0.66 0.73 0.64 0.85 0.39 0.65 0.5157 0.7087 0.7419 0.8642 0.4608 0.3942 0.4744 0.5763 0.49 0.69 0.39 0.6 . rs6810039 COSM3760051 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.378 N 1 0.090 P -2.135 0.001 N 3.36 0.059 T 2.35 0.003 N 0.024 0.007 -0.952 0.407 T 0.000 0.000 T . . . -1.075 0.029 0.011 0.323 0.019 0.014 0.046 N c -2.009 -1.948 1.000 0.747 0.707 0.730 0 -9.81 0.004 -0.935 0.040 -0.531 0.049 0.058 0.215 0.976 0.476 8.356 0.313 . ENSG00000170275.10|ENSG00000170275.10 Testis|Thyroid 0.5213 0.7103 0.7235 0.3378 0.8626 0.4655 0.3957 0.4909 0.5748 0.5243 0.7049 0.6551 0.3808 0.8661 0.4547 0.3994 0.4457 het 1197.03 98 3 33194990 . C A 1197.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.777;DP=98;Dels=0.00;FS=1.660;HRun=0;HaplotypeScore=0.8667;MQ=59.05;MQ0=0;MQRankSum=0.281;QD=12.21;ReadPosRankSum=-1.226;VQSLOD=6.5340;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,48:98:99:1227,0,1450 3 33195284 33195284 G A exonic SUSD5 synonymous SNV SUSD5:NM_015551:exon5:c.C840T:p.P280P 0.16 0.086 0.18 0.19 0.15 0.23 0.1649 0.0975 0.2025 0.2327 0.0995 0.1547 0.1667 0.2105 0.14 0.09 0.16 0.13 . rs61743511 COSM149350 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1653 0.0965 0.1964 0.1570 0.2298 0.0988 0.1565 0.1614 0.2126 0.1326 0.0945 0.1754 0.17 0.2386 0.1054 0.1455 0.1490 het 719.61 76 3 33195284 . G A 719.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.005;DP=76;Dels=0.00;FS=6.441;HRun=0;HaplotypeScore=3.6479;MQ=59.70;MQ0=0;MQRankSum=0.952;QD=9.47;ReadPosRankSum=-0.364;VQSLOD=4.3074;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,29:76:99:750,0,1321 3 33195309 33195309 A G exonic SUSD5 nonsynonymous SNV SUSD5:NM_015551:exon5:c.T815C:p.L272S 0.2 0.22 0.19 0.19 0.16 0.23 0.1751 0.2079 0.2101 0.2330 0.0995 0.1552 0.1682 0.2119 0.17 0.2 0.16 0.18 . rs61743461 COSM3760052 1(large_intestine) . . . . . . . . . . . 0.1 0.305 T 0.11 0.246 B 0.016 0.166 B 0.297 0.039 N 1 0.090 P 2.135 0.597 M 3.27 0.066 T -2.03 0.466 N 0.098 0.100 -0.937 0.431 T 0.000 0.000 T . . . -0.893 0.036 0.027 0.812 0.131 0.041 0.094 N c -0.964 -1.051 0.985 0.308 0.707 0.730 0 -2.95 0.052 0.008 0.130 0.237 0.263 0.057 0.215 0.212 0.220 6.670 0.221 . . . 0.1734 0.2031 0.2029 0.1584 0.2299 0.0989 0.1570 0.1664 0.2138 0.1621 0.1971 0.1814 0.17 0.2386 0.1054 0.1461 0.1527 het 763.64 88 3 33195309 . A G 763.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.117;DP=88;Dels=0.00;FS=5.831;HRun=0;HaplotypeScore=4.0057;MQ=59.36;MQ0=0;MQRankSum=0.131;QD=8.68;ReadPosRankSum=-1.447;VQSLOD=4.0184;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,35:88:99:794,0,1453 3 33255592 33255592 A G exonic SUSD5 nonsynonymous SNV SUSD5:NM_015551:exon2:c.T118C:p.F40L 0.95 0.99 0.93 0.99 0.85 0.97 0.8990 0.9698 0.9291 0.9977 0.9226 0.8559 0.8898 0.9509 0.89 0.97 0.86 0.96 . rs9637517 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.379 N 1.000 0.186 P -1.845 0.003 N 2.34 0.164 T 3.3 0.001 N 0.201 0.246 -0.972 0.367 T 0.000 0.000 T . . . 1.622 0.256 13.97 0.759 0.109 0.059 0.117 N c -0.865 -0.548 0.089 0.161 0.707 0.730 0 5.03 0.669 1.428 0.343 0.076 0.183 1.000 0.715 0.980 0.490 8.062 0.296 C-type lectin fold|C-type lectin-like|Link domain . . 0.8996 0.9693 0.9318 0.7917 0.9982 0.9270 0.8566 0.8776 0.9481 0.9131 0.9650 0.9189 0.8046 0.9963 0.9177 0.8753 0.9029 hom 2051.23 60 3 33255592 . A G 2051.23 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.19;VQSLOD=14.5177;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2084,163,0 3 33879770 33879770 G A exonic PDCD6IP nonsynonymous SNV PDCD6IP:NM_001162429:exon9:c.G1147A:p.V383I,PDCD6IP:NM_013374:exon9:c.G1132A:p.V378I 0.29 0.015 0.23 0.34 0.45 0.5 0.3795 0.0714 0.1556 0.3242 0.4909 0.4351 0.3888 0.4886 0.32 0.086 0.44 0.33 0.5 rs3203777 COSM149352 1(stomach);1(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.158 0.242 T 0.022 0.174 B 0.049 0.247 B 0.000 0.629 N 0.000 0.588 P 0.855 0.214 L 2.03 0.210 T -0.6 0.178 N 0.122 0.160 -0.908 0.471 T 0.000 0.000 T . . . 3.198 0.444 22.7 0.995 0.668 0.978 0.773 D c 0.045 0.230 1.000 0.747 0.707 0.730 0 4.92 0.640 5.655 0.674 0.897 0.411 1.000 0.715 0.993 0.574 11.606 0.501 BRO1 domain ENSG00000271643.1|ENSG00000271020.1|ENSG00000271643.1|ENSG00000271643.1|ENSG00000271324.1|ENSG00000170248.9 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.3746 0.0663 0.1638 0.2945 0.3279 0.4926 0.4403 0.3690 0.4863 0.3351 0.0764 0.2105 0.2819 0.3582 0.4859 0.4486 0.4531 hom 4665.02 170 3 33879770 . G A 4665.02 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3503;MQ=55.67;MQ0=0;QD=27.44;VQSLOD=3.5295;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:4664,364,0 3 35725250 35725250 C T exonic ARPP21 synonymous SNV ARPP21:NM_001267618:exon4:c.C204T:p.S68S,ARPP21:NM_001267619:exon4:c.C204T:p.S68S,ARPP21:NM_198399:exon4:c.C204T:p.S68S,ARPP21:NM_001025068:exon5:c.C204T:p.S68S,ARPP21:NM_001025069:exon5:c.C204T:p.S68S,ARPP21:NM_001267616:exon5:c.C204T:p.S68S,ARPP21:NM_001267617:exon5:c.C204T:p.S68S,ARPP21:NM_016300:exon5:c.C204T:p.S68S 0.72 0.87 0.56 0.65 0.62 0.79 0.6633 0.8409 0.5273 0.6540 0.5224 0.6435 0.6406 0.7822 0.71 0.84 0.65 0.77 0.56 rs969818 COSM4002660;COSM4002661;COSM4002662 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6409 0.8467 0.5089 0.7121 0.6432 0.5178 0.6334 0.6460 0.7749 0.6699 0.8396 0.5447 0.6854 0.6485 0.5270 0.6174 0.6061 het 391.96 38 3 35725250 . C T 391.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.286;DP=38;Dels=0.00;FS=2.835;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=0.352;QD=10.31;ReadPosRankSum=-0.939;VQSLOD=5.3328;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,17:38:99:422,0,572 3 37033462 37033462 T G exonic EPM2AIP1 synonymous SNV EPM2AIP1:NM_014805:exon1:c.A1107C:p.T369T 0.0082 0.0015 0.0086 . 0.031 0.002 0.0282 0.0070 0.0106 0 0.0222 0.0439 0.0301 0.0070 0.036 0.0069 0.049 . . rs4647200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0271 0.0065 0.0114 0.0216 5.798e-05 0.0220 0.0454 0.0281 0.0084 0.0305 0.0086 0.0119 0.0199 0 0.0218 0.0494 0.0367 het 2848.28 249 3 37033462 . T G 2848.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.577;DP=249;DS;Dels=0.00;FS=0.465;HRun=1;HaplotypeScore=8.0842;MQ=58.76;MQ0=0;MQRankSum=0.137;QD=11.44;ReadPosRankSum=-0.132;VQSLOD=4.8290;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:2878,0,3580 3 37053568 37053568 A G exonic MLH1 nonsynonymous SNV MLH1:NM_000249:exon8:c.A655G:p.I219V,MLH1:NM_001167617:exon8:c.A361G:p.I121V,MLH1:NM_001258271:exon8:c.A655G:p.I219V 0.13 0.039 0.17 0.026 0.33 0.13 0.2325 0.0795 0.1501 0.0221 0.2859 0.3176 0.2163 0.1326 0.24 0.092 0.32 0.098 0.23 rs1799977 COSM1131469 1(bone);12(soft_tissue);5(prostate);7(large_intestine) Benign\x2cBenign|Benign|Benign|Benign|Benign Lynch_syndrome\x2cLynch_syndrome|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I RCV000075795.2\x2cRCV000030230.4|RCV000034548.1|RCV000035355.10|RCV000131385.3|RCV000144603.1 MedGen:Orphanet:SNOMED_CT\x2cMedGen:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen:SNOMED_CT|MedGen:OMIM C1333990:ORPHA144:315058005\x2cC1333990:ORPHA144:315058005|CN221809|CN169374|C0027672:699346009|C2936783:120435 . . . . . . 0.338 0.128 T 0.018 0.165 B 0.028 0.267 B 0.000 0.629 D 0.000 0.810 P 1.03 0.257 L -1.74 0.834 D -0.46 0.150 N 0.291 0.559 -1.077 0.079 T 0.000 0.000 T . . . 1.609 0.255 13.90 0.987 0.438 0.802 0.396 D c -0.211 0.000 1.000 0.403 0.732 0.924 0 4.61 0.566 2.049 0.407 1.199 0.960 1.000 0.715 1.000 0.888 7.484 0.264 DNA mismatch repair protein\x2c C-terminal|Histidine kinase-like ATPase\x2c C-terminal domain|Ribosomal protein S5 domain 2-type fold|Ribosomal protein S5 domain 2-type fold\x2c subgroup;Histidine kinase-like ATPase\x2c C-terminal domain ENSG00000093167.13|ENSG00000093167.13|ENSG00000093167.13|ENSG00000272334.1|ENSG00000144674.12|ENSG00000093167.13|ENSG00000144674.12|ENSG00000076242.10|ENSG00000093167.13|ENSG00000093167.13|ENSG00000224080.1|ENSG00000093167.13 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2338 0.0743 0.1640 0.2898 0.0208 0.2904 0.3199 0.2519 0.1355 0.2281 0.0826 0.1643 0.2947 0.0197 0.3009 0.3179 0.2719 het 1690.91 127 3 37053568 . A G 1690.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.045;DP=127;Dels=0.00;FS=1.423;HRun=0;HaplotypeScore=2.4095;MQ=58.48;MQ0=0;MQRankSum=0.799;QD=13.31;ReadPosRankSum=-1.127;VQSLOD=5.9737;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,66:127:99:1721,0,1481 3 37366459 37366459 C A exonic GOLGA4 nonsynonymous SNV GOLGA4:NM_002078:exon14:c.C3082A:p.Q1028K,GOLGA4:NM_001172713:exon15:c.C3148A:p.Q1050K 0.2 0.14 0.3 0.076 0.36 0.16 0.3028 0.1797 0.3064 0.0595 0.3188 0.3811 0.2690 0.1807 0.32 0.19 0.39 0.21 0.3 rs11718848 COSM5021380 1(bone) . . . . . . . . . . . 0.007 0.614 D 0.993 0.637 D 0.915 0.633 D 0.004 0.345 N 0.000 0.810 P 2.57 0.754 M 1.66 0.278 T -1.59 0.435 N 0.146 0.172 -0.955 0.402 T 0.000 0.000 T . . . 4.196 0.562 23.9 0.993 0.592 0.947 0.616 D c 0.436 0.447 1.000 0.747 0.732 0.924 0 5.28 0.740 4.880 0.626 0.935 0.490 1.000 0.715 0.929 0.403 18.915 0.924 . ENSG00000093167.13|ENSG00000144674.12|ENSG00000093167.13|ENSG00000144674.12|ENSG00000076242.10|ENSG00000093167.13|ENSG00000093167.13|ENSG00000144674.12|ENSG00000093167.13|ENSG00000093167.13|ENSG00000144668.7 Artery_Aorta|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.3024 0.1756 0.3063 0.3152 0.0565 0.3209 0.3847 0.3174 0.1825 0.2952 0.1921 0.3019 0.3411 0.0545 0.3290 0.3705 0.3180 het 955.51 70 3 37366459 . C A 955.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.213;DP=70;Dels=0.00;FS=0.961;HRun=3;HaplotypeScore=0.9469;MQ=58.26;MQ0=0;MQRankSum=1.310;QD=13.65;ReadPosRankSum=0.558;VQSLOD=5.6007;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:986,0,957 3 37368755 37368755 T A exonic GOLGA4 nonsynonymous SNV GOLGA4:NM_002078:exon14:c.T5378A:p.M1793K,GOLGA4:NM_001172713:exon15:c.T5444A:p.M1815K 0.2 0.14 0.3 0.076 0.36 0.16 0.3033 0.1819 0.3064 0.0595 0.3201 0.3818 0.2694 0.1806 0.32 0.19 0.39 0.21 0.39 rs62241896 . . . . . . . . . . . . . 0.01 0.574 D 0.009 0.154 B 0.006 0.112 B 0.875 0.088 N 1 0.090 P 2.08 0.576 M 1.99 0.217 T -0.57 0.172 N 0.107 0.138 -0.920 0.456 T 0.000 0.000 T . . . -1.387 0.020 0.003 0.754 0.107 0.092 0.149 N c -1.151 -1.218 0.985 0.308 0.732 0.924 0 -1.3 0.087 0.048 0.139 0.116 0.208 0.025 0.199 0.237 0.225 3.351 0.067 . ENSG00000093167.13|ENSG00000144674.12|ENSG00000093167.13|ENSG00000144674.12|ENSG00000076242.10|ENSG00000093167.13|ENSG00000093167.13|ENSG00000144674.12|ENSG00000093167.13|ENSG00000093167.13|ENSG00000144668.7 Artery_Aorta|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.3043 0.1761 0.3083 0.3186 0.0569 0.3222 0.3865 0.3214 0.1847 0.2960 0.1940 0.3002 0.3411 0.0551 0.3304 0.3709 0.3194 het 1354.20 114 3 37368755 . T A 1354.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.038;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8782;MQ=59.67;MQ0=0;MQRankSum=0.581;QD=11.88;ReadPosRankSum=-0.360;VQSLOD=6.1695;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,56:114:99:1384,0,1466 3 37574951 37574951 G A exonic ITGA9 nonsynonymous SNV ITGA9:NM_002207:exon14:c.G1520A:p.G507E 0.56 0.45 0.68 0.8 0.54 0.38 0.5728 0.4682 0.7559 0.8079 0.5553 0.5730 0.5122 0.3970 0.54 0.47 0.58 0.59 0.54 rs267561 COSM3760058 1(pancreas);1(large_intestine) Benign not_specified RCV000454716.1 MedGen CN169374 . . . . . . 0.031 0.469 D 0.003 0.358 B 0.02 0.440 B 0.000 0.843 D 0.000 0.588 P 2.625 0.771 M 0.85 0.471 T -4.0 0.740 D 0.407 0.465 -1.034 0.191 T 0.000 0.000 T . . . 4.537 0.608 24.3 0.996 0.750 0.987 0.860 D c 0.309 0.413 1.000 0.747 0.554 0.246 0 5.86 0.939 7.878 0.855 1.048 0.713 1.000 0.715 0.951 0.427 20.186 0.982 Integrin alpha-2|Integrin domain ENSG00000144668.7 Brain_Cerebellum 0.5813 0.4633 0.7402 0.4977 0.8114 0.5687 0.5750 0.5617 0.4003 0.5517 0.4565 0.7045 0.5067 0.8290 0.5618 0.5697 0.5164 hom 3683.11 114 3 37574951 . G A 3683.11 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.25;MQ0=0;QD=32.31;VQSLOD=9.4861;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3683,292,0 3 37670679 37670679 G A exonic ITGA9 nonsynonymous SNV ITGA9:NM_002207:exon16:c.G1691A:p.R564Q 0.001 . 0.0014 . 0.003 0.001 0.0035 0.0008 0.0013 0 0.0002 0.0051 0.0022 0.0035 0.0048 0.0007 0.007 . . rs61751189 . . . . . . . . . . . . . 0.017 0.555 D 0.46 0.670 P 0.108 0.585 B 0.000 0.629 D 0.996 0.467 D 1.95 0.526 M 0.88 0.460 T -0.79 0.221 N 0.406 0.505 -0.842 0.526 T 0.156 0.488 T 0.029 0.518 D 7.346 0.949 34 0.999 0.999 0.693 0.339 D c 0.464 0.523 1.000 0.747 0.638 0.428 0 5.44 0.793 4.931 0.629 1.048 0.713 1.000 0.715 0.999 0.750 18.054 0.892 Integrin alpha-2|Integrin domain . . 0.0033 0.0006 0.0016 0.0001 0 0.0004 0.0056 0.0024 0.0034 0.0027 0.0008 0.0012 0 0 0.0009 0.0049 0.0010 het 2009.99 180 3 37670679 . G A 2009.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.847;DP=180;Dels=0.00;FS=0.559;HRun=0;HaplotypeScore=5.6070;MQ=59.31;MQ0=0;MQRankSum=1.858;QD=11.17;ReadPosRankSum=0.813;VQSLOD=4.1754;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,80:180:99:2040,0,2622 3 38080952 38080952 T G exonic DLEC1 nonsynonymous SNV DLEC1:NM_001321153:exon1:c.T236G:p.L79R,DLEC1:NM_007335:exon1:c.T236G:p.L79R,DLEC1:NM_007337:exon1:c.T236G:p.L79R 0.45 0.57 0.41 0.61 0.34 0.28 0.3706 0.5632 0.3952 0.5914 0.3705 0.3372 0.3386 0.2621 0.4 0.52 0.34 0.48 0.34 rs7625806 COSM446431;COSM446432 1(large_intestine) . . . . . . . . . . . 0.424 0.127 T 0.006 0.126 B 0.017 0.170 B 0.892 0.087 N 1 0.090 P 2.38 0.688 M 3.32 0.065 T -1.43 0.352 N 0.026 0.008 -0.982 0.346 T 0.000 0.000 T . . . 0.124 0.106 3.862 0.953 0.261 0.173 0.196 N c -1.273 -1.283 1.000 0.517 0.437 0.062 0 0.309 0.150 0.016 0.132 -0.822 0.031 0.086 0.223 0.030 0.147 2.353 0.040 . ENSG00000008226.15 Nerve_Tibial 0.3727 0.5584 0.4049 0.3498 0.6000 0.3668 0.3357 0.3573 0.2675 0.4165 0.5427 0.3866 0.3733 0.5993 0.3749 0.3399 0.3513 het 1049.77 109 3 38080952 . T G 1049.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.391;DP=109;Dels=0.00;FS=1.613;HRun=1;HaplotypeScore=0.9894;MQ=59.36;MQ0=0;MQRankSum=0.662;QD=9.63;ReadPosRankSum=0.231;VQSLOD=6.7580;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,45:109:99:1080,0,1954 3 38081031 38081031 A T exonic DLEC1 synonymous SNV DLEC1:NM_001321153:exon1:c.A315T:p.S105S,DLEC1:NM_007335:exon1:c.A315T:p.S105S,DLEC1:NM_007337:exon1:c.A315T:p.S105S 0.34 0.29 0.34 0.55 0.3 0.23 0.3161 0.3282 0.3569 0.5527 0.3525 0.2961 0.2764 0.2248 0.3 0.3 0.29 0.34 0.38 rs7616776 COSM3760061;COSM3760062 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3206 0.3185 0.3683 0.2977 0.5585 0.3479 0.2929 0.2979 0.2279 0.3253 0.3109 0.3541 0.3233 0.5678 0.3577 0.3003 0.2953 het 2308.02 164 3 38081031 . A T 2308.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.586;DP=164;Dels=0.00;FS=2.772;HRun=0;HaplotypeScore=2.8125;MQ=58.85;MQ0=0;MQRankSum=0.244;QD=14.07;ReadPosRankSum=0.240;VQSLOD=5.9972;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,85:164:99:2338,0,2342 3 38151731 38151731 T C exonic DLEC1 synonymous SNV DLEC1:NM_001321153:exon23:c.T3411C:p.Y1137Y,DLEC1:NM_007335:exon23:c.T3402C:p.Y1134Y,DLEC1:NM_007337:exon23:c.T3402C:p.Y1134Y 0.46 0.57 0.45 0.61 0.36 0.25 0.3868 0.5610 0.4162 0.6162 0.3700 0.3601 0.3467 0.2602 0.42 0.53 0.37 0.51 0.43 rs12630114 COSM3760065;COSM3760066 1(bone);1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3886 0.5565 0.4215 0.3882 0.6185 0.3667 0.3585 0.3832 0.2662 0.4263 0.5336 0.4189 0.4338 0.6097 0.3721 0.3605 0.3730 het 4200.83 249 3 38151731 . T C 4200.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.670;DP=249;DS;Dels=0.00;FS=2.868;HRun=0;HaplotypeScore=8.8288;MQ=59.44;MQ0=0;MQRankSum=1.674;QD=16.87;ReadPosRankSum=-0.215;VQSLOD=3.8888;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,129:249:99:3547,0,3248 3 38170810 38170810 C G exonic ACAA1 nonsynonymous SNV ACAA1:NM_001607:exon6:c.G516C:p.E172D 0.14 0.025 0.13 0.32 0.14 0.091 0.1530 0.0448 0.1995 0.3607 0.1914 0.1492 0.1200 0.0818 0.11 0.047 0.15 0.11 0.21 rs156265 . . . . . . . . . . . . . 0.25 0.189 T 0.0 0.067 B 0.0 0.080 B 0.569 0.113 N 0.988 0.417 P -0.255 0.038 N -2.67 0.903 D -0.78 0.216 N 0.194 0.238 -0.926 0.447 T 0.000 0.000 T . . . 1.446 0.236 13.03 0.989 0.477 0.226 0.216 N c -0.525 -0.471 1.000 0.420 0.707 0.730 0 1.68 0.231 0.285 0.185 0.035 0.151 0.029 0.202 0.944 0.418 3.317 0.066 Thiolase\x2c N-terminal|Thiolase-like . . 0.1566 0.0425 0.1995 0.1483 0.3606 0.1851 0.1449 0.1407 0.0795 0.1382 0.0399 0.1778 0.1854 0.3660 0.1820 0.1572 0.1411 het 2437.94 188 3 38170810 . C G 2437.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.520;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8119;MQ=58.68;MQ0=0;MQRankSum=-0.466;QD=12.97;ReadPosRankSum=-0.158;VQSLOD=4.8570;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,95:188:99:2468,0,2408 3 38349147 38349150 TTTG - exonic SLC22A14 frameshift deletion SLC22A14:NM_004803:exon3:c.711_714del:p.L238Sfs*24,SLC22A14:NM_001320033:exon4:c.711_714del:p.L238Sfs*24 0.012 0.0008 0.011 . 0.029 0.024 0.0245 0.0056 0.0097 0 0.0174 0.0313 0.0319 0.0350 0.025 0.0066 0.035 . . rs138257211 COSM308426 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0235 0.0050 0.0100 0.0178 0 0.0172 0.0329 0.0248 0.0326 0.0189 0.0068 0.0095 0.0166 0 0.0192 0.0275 0.0337 het 4899.13 245 3 38349146 . ATTTG A 4899.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=11.320;DP=245;FS=6.414;HRun=0;HaplotypeScore=1154.2887;MQ=56.96;MQ0=0;MQRankSum=-1.726;QD=19.92;ReadPosRankSum=0.408;set=variant2 GT:AD:DP:GQ:PL 0/1:146,100:245:99:4899,0,10228 3 38350479 38350479 T C exonic SLC22A14 synonymous SNV SLC22A14:NM_004803:exon4:c.T810C:p.H270H,SLC22A14:NM_001320033:exon5:c.T810C:p.H270H 0.83 0.84 0.81 0.76 0.87 0.84 0.8493 0.8373 0.8102 0.7444 0.8638 0.8724 0.8753 0.8384 0.87 0.83 0.88 0.74 0.91 rs818819 COSM1179805 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8467 0.8358 0.8113 0.8295 0.7420 0.8569 0.8768 0.8485 0.8382 0.8511 0.8326 0.7936 0.8146 0.7327 0.8532 0.8776 0.8602 hom 7458.13 249 3 38350479 . T C 7458.13 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9025;MQ=59.42;MQ0=0;QD=29.95;VQSLOD=8.0006;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7422,605,0 3 38350519 38350519 G A exonic SLC22A14 nonsynonymous SNV SLC22A14:NM_004803:exon4:c.G850A:p.V284M,SLC22A14:NM_001320033:exon5:c.G850A:p.V284M 0.83 0.84 0.81 0.76 0.87 0.84 0.8492 0.8374 0.8104 0.7432 0.8638 0.8723 0.8744 0.8384 0.87 0.83 0.88 0.74 0.91 rs818818 . . . . . . . . . . . . . 1.0 0.010 T 0.004 0.112 B 0.012 0.149 B 0.010 0.300 N 1 0.090 P -1.21 0.008 N -0.85 0.744 T 1.94 0.004 N 0.111 0.120 -0.895 0.485 T 0.000 0.000 T . . . -2.945 0.001 0.001 0.066 0.000 0.003 0.017 N c -2.607 -2.638 1.000 0.747 0.549 0.223 0 -10.0 0.004 -1.975 0.016 -1.602 0.009 0.000 0.063 0.000 0.016 2.159 0.036 Major facilitator superfamily domain . . 0.8466 0.8357 0.8111 0.8293 0.7414 0.8567 0.8767 0.8483 0.8382 0.8510 0.8323 0.7943 0.8146 0.7318 0.8532 0.8774 0.8605 hom 6279.36 190 3 38350519 . G A 6279.36 Mask AC=2;AF=1.00;AN=2;DP=190;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4913;MQ=59.59;MQ0=0;QD=33.05;VQSLOD=7.8259;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:190:99:6278,515,0 3 38350543 38350543 A G exonic SLC22A14 nonsynonymous SNV SLC22A14:NM_004803:exon4:c.A874G:p.S292G,SLC22A14:NM_001320033:exon5:c.A874G:p.S292G 0.84 0.89 0.81 0.76 0.86 0.84 0.8455 0.8804 0.8101 0.7436 0.8221 0.8636 0.8623 0.8370 0.87 0.87 0.88 0.79 0.89 rs818817 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.004 0.093 B 0.172 0.173 N 1 0.090 P 0.635 0.160 N 0.37 0.577 T 0.96 0.015 N 0.062 0.049 -1.022 0.231 T 0.000 0.000 T . . . -1.713 0.012 0.002 0.294 0.016 0.030 0.078 N c -1.406 -1.359 0.008 0.116 0.549 0.223 0 1.28 0.206 0.700 0.251 0.162 0.245 0.003 0.159 0.003 0.074 3.723 0.079 Major facilitator superfamily domain . . 0.8413 0.8793 0.8112 0.8268 0.7417 0.8157 0.8681 0.8414 0.8367 0.8539 0.8784 0.7895 0.8113 0.7336 0.8128 0.8672 0.8452 hom 6074.37 186 3 38350543 . A G 6074.37 Mask AC=2;AF=1.00;AN=2;DP=186;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6086;MQ=59.20;MQ0=0;QD=32.66;VQSLOD=7.2417;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:6073,496,0 3 38357961 38357961 C G exonic SLC22A14 nonsynonymous SNV SLC22A14:NM_004803:exon9:c.C1679G:p.P560R,SLC22A14:NM_001320033:exon10:c.C1679G:p.P560R 0.26 0.25 0.28 0.26 0.25 0.25 0.2725 0.2581 0.2989 0.2666 0.2455 0.2747 0.2744 0.2677 0.28 0.27 0.28 0.32 0.4 rs240033 COSM3760068 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.034 0.440 D 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 1.000 0.090 P . . . -1.32 0.798 T -7.54 0.951 D 0.235 0.406 -1.143 0.012 T 0.000 0.000 T . . . 3.331 0.459 22.9 0.989 0.479 0.688 0.337 D c -0.080 -0.294 0.039 0.144 0.500 0.196 0 2.39 0.284 2.712 0.466 -0.378 0.066 0.976 0.346 0.001 0.043 6.019 0.187 Major facilitator superfamily domain ENSG00000144671.6 Testis 0.2765 0.2637 0.2959 0.3850 0.2595 0.2525 0.2713 0.2720 0.2731 0.2662 0.2642 0.2871 0.4238 0.2550 0.2572 0.2675 0.2490 het 1206.77 95 3 38357961 . C G 1206.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.716;DP=95;Dels=0.00;FS=2.754;HRun=2;HaplotypeScore=3.8636;MQ=59.41;MQ0=0;MQRankSum=0.004;QD=12.70;ReadPosRankSum=-0.450;VQSLOD=5.7691;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,48:95:99:1237,0,1257 3 38401839 38401839 T C exonic XYLB synonymous SNV XYLB:NM_001349178:exon3:c.T150C:p.G50G,XYLB:NM_005108:exon3:c.T150C:p.G50G 0.96 0.87 0.98 1. 1. 1. 0.9895 0.8949 0.9923 1 1 0.9987 0.9945 0.9998 0.96 0.9 1. 0.98 0.98 rs818850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9908 0.8917 0.9901 0.9911 1 1.0000 0.9988 0.9898 0.9997 0.9673 0.8878 0.9916 0.9901 1 1 0.9986 0.9959 hom 6024.44 205 3 38401839 . T C 6024.44 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.20;MQ0=0;QD=29.39;VQSLOD=9.0239;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6023,469,0 3 38404472 38404472 C A exonic XYLB nonsynonymous SNV XYLB:NM_001349178:exon4:c.C255A:p.D85E,XYLB:NM_005108:exon4:c.C255A:p.D85E 0.23 0.11 0.3 0.29 0.35 0.19 0.3012 0.1398 0.2655 0.2738 0.3338 0.3467 0.3221 0.2410 0.28 0.14 0.35 0.18 0.31 rs17118 COSM4157998 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.056 0.381 T 0.319 0.312 B 0.513 0.462 P 0.289 0.148 N 0.605 0.588 P 1.98 0.539 M 0.86 0.468 T -2.49 0.542 N 0.14 0.163 -0.972 0.368 T 0.000 0.000 T . . . 3.887 0.524 23.5 0.996 0.764 0.825 0.414 D c -0.100 -0.099 0.249 0.187 0.651 0.465 0 0.69 0.171 0.014 0.131 0.935 0.490 0.962 0.335 0.998 0.697 4.392 0.107 . . . 0.2898 0.1283 0.2434 0.3091 0.2558 0.3146 0.3390 0.2981 0.2200 0.2870 0.1422 0.2823 0.3079 0.3031 0.3247 0.3574 0.3368 het 2192.99 158 3 38404472 . C A 2192.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.227;DP=158;Dels=0.00;FS=0.618;HRun=1;HaplotypeScore=5.8077;MQ=59.18;MQ0=0;MQRankSum=0.090;QD=13.88;ReadPosRankSum=0.760;VQSLOD=5.2626;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,86:158:99:2223,0,1955 3 38406773 38406773 G T exonic XYLB synonymous SNV XYLB:NM_001349178:exon5:c.G375T:p.L125L,XYLB:NM_005108:exon5:c.G375T:p.L125L 0.9 0.7 0.94 1. 0.94 0.98 0.9360 0.7551 0.9606 1 0.9477 0.9437 0.9449 0.9626 0.88 0.76 0.94 0.85 0.9 rs704943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9391 0.7478 0.9546 0.9417 1 0.9464 0.9435 0.9375 0.9611 0.8918 0.7474 0.9511 0.9172 1 0.9476 0.9434 0.9491 hom 2952.80 93 3 38406773 . G T 2952.80 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.51;MQ0=0;QD=31.75;VQSLOD=8.4926;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2986,244,0 3 38408361 38408361 G A exonic XYLB synonymous SNV XYLB:NM_001349179:exon5:c.G159A:p.T53T,XYLB:NM_001349178:exon7:c.G570A:p.T190T,XYLB:NM_005108:exon7:c.G570A:p.T190T 0.9 0.71 0.94 1. 0.94 0.98 0.9367 0.7642 0.9604 1 0.9474 0.9437 0.9438 0.9626 0.88 0.77 0.94 0.85 0.93 rs843890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9396 0.7578 0.9546 0.9418 1 0.9463 0.9434 0.9370 0.9612 0.8936 0.7536 0.9511 0.9172 1 0.9482 0.9435 0.9501 hom 2571.78 82 3 38408361 . G A 2571.78 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8738;MQ=59.15;MQ0=0;QD=31.36;VQSLOD=8.7374;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2605,199,0 3 38519424 38519424 A G exonic ACVR2B synonymous SNV ACVR2B:NM_001106:exon3:c.A333G:p.E111E 0.48 0.31 0.49 0.44 0.62 0.6 0.5683 0.3511 0.5240 0.4680 0.5658 0.6206 0.5498 0.5783 0.52 0.35 0.61 0.47 0.57 rs2070489 COSM4158000;COSM4157999 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Heterotaxy_syndrome RCV000244045.1|RCV000299332.1 MedGen|MedGen CN169374|C3178805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5654 0.3447 0.5332 0.5595 0.4701 0.5585 0.6182 0.5619 0.5790 0.5277 0.3442 0.5346 0.5533 0.4658 0.5702 0.6259 0.5979 hom 5860.43 172 3 38519424 . A G 5860.43 Mask AC=2;AF=1.00;AN=2;DP=172;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3328;MQ=58.31;MQ0=0;QD=34.07;VQSLOD=7.7686;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5860,466,0 3 38524742 38524742 C T exonic ACVR2B synonymous SNV ACVR2B:NM_001106:exon11:c.C1458T:p.N486N 0.35 0.13 0.32 0.26 0.58 0.55 0.4851 0.1765 0.3227 0.2751 0.5376 0.5746 0.5 0.5194 0.44 0.18 0.57 0.26 0.48 rs1046048 . . Benign|Benign not_specified|Heterotaxy_syndrome RCV000253566.1|RCV000291591.1 MedGen|MedGen CN169374|C3178805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4785 0.1730 0.3320 0.5010 0.2695 0.5343 0.5719 0.4845 0.5199 0.4352 0.1770 0.3305 0.4934 0.2565 0.5468 0.5760 0.5502 het 2392.44 167 3 38524742 . C T 2392.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.682;DP=167;Dels=0.00;FS=1.311;HRun=0;HaplotypeScore=3.7383;MQ=59.22;MQ0=0;MQRankSum=0.842;QD=14.33;ReadPosRankSum=-1.136;VQSLOD=6.0808;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,84:167:99:2422,0,2077 3 38592406 38592406 A G exonic SCN5A synonymous SNV SCN5A:NM_001099405:exon27:c.T5403C:p.D1801D,SCN5A:NM_001160161:exon27:c.T5295C:p.D1765D,SCN5A:NM_000335:exon28:c.T5454C:p.D1818D,SCN5A:NM_001099404:exon28:c.T5457C:p.D1819D,SCN5A:NM_001160160:exon28:c.T5358C:p.D1786D,SCN5A:NM_198056:exon28:c.T5457C:p.D1819D 0.49 0.7 0.43 0.58 0.36 0.3 0.3878 0.6508 0.3916 0.5534 0.4433 0.3338 0.4180 0.3364 0.43 0.63 0.33 0.46 . rs1805126 COSM4158001;COSM4158003;COSM4158002 1(thyroid) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Brugada_syndrome|Romano-Ward_syndrome|Long_QT_syndrome|Dilated_Cardiomyopathy\x2c_Dominant|Paroxysmal_familial_ventricular_fibrillation|Sick_sinus_syndrome|Progressive_familial_heart_block RCV000041627.5|RCV000243623.1|RCV000286827.1|RCV000302171.1|RCV000335948.1|RCV000341786.1|RCV000347752.1|RCV000371957.1|RCV000390614.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT|MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet CN169374|CN230736|C1142166:ORPHA130:418818005|CN119492:20852007|C0023976:9651007|CN239310|C0340493:ORPHA228140:233915000|C0037052:ORPHA166282:36083008|CN206278:ORPHA871 Electrocardiographic conduction measures . -0.66 23463857 rs1805126 3E-20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3872 0.6551 0.3766 0.3401 0.5575 0.4431 0.3339 0.3999 0.3359 0.4472 0.6625 0.3765 0.3367 0.5580 0.4376 0.3240 0.3633 het 1910.23 137 3 38592406 . A G 1910.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.577;DP=137;Dels=0.00;FS=0.672;HRun=0;HaplotypeScore=2.5424;MQ=59.83;MQ0=0;MQRankSum=-1.217;QD=13.94;ReadPosRankSum=0.634;VQSLOD=6.0432;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,71:137:99:1940,0,1739 3 38622467 38622467 T C exonic SCN5A synonymous SNV SCN5A:NM_000335:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099404:exon17:c.A3183G:p.E1061E,SCN5A:NM_001099405:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160160:exon17:c.A3183G:p.E1061E,SCN5A:NM_001160161:exon17:c.A3183G:p.E1061E,SCN5A:NM_198056:exon17:c.A3183G:p.E1061E 0.92 0.87 0.92 1. 0.91 0.94 0.9128 0.8880 0.9542 0.9990 0.9254 0.8898 0.9195 0.9410 0.89 0.89 0.88 0.84 . rs7430407 COSM1485143;COSM1485142;COSM446444 1(thyroid) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Progressive_familial_heart_block|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Long_QT_syndrome|Dilated_Cardiomyopathy\x2c_Dominant|Brugada_syndrome|Romano-Ward_syndrome RCV000041613.5|RCV000244326.1|RCV000287183.1|RCV000307233.1|RCV000342149.1|RCV000347249.1|RCV000402957.1|RCV000403803.1|RCV000408429.1 MedGen|MedGen|MedGen:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN230736|CN206278:ORPHA871|C0037052:ORPHA166282:36083008|C0340493:ORPHA228140:233915000|C0023976:9651007|CN239310|C1142166:ORPHA130:418818005|CN119492:20852007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9140 0.8882 0.9447 0.8678 0.9992 0.9283 0.8897 0.9012 0.9399 0.9032 0.8836 0.9284 0.8742 0.9994 0.9242 0.8978 0.9155 hom 2084.06 65 3 38622467 . T C 2084.06 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8808;MQ=59.43;MQ0=0;QD=32.06;VQSLOD=9.2294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2117,163,0 3 38674712 38674712 T C exonic SCN5A synonymous SNV SCN5A:NM_000335:exon2:c.A87G:p.A29A,SCN5A:NM_001099404:exon2:c.A87G:p.A29A,SCN5A:NM_001099405:exon2:c.A87G:p.A29A,SCN5A:NM_001160160:exon2:c.A87G:p.A29A,SCN5A:NM_001160161:exon2:c.A87G:p.A29A,SCN5A:NM_198056:exon2:c.A87G:p.A29A 0.78 0.92 0.72 0.67 0.79 0.75 0.7737 0.8941 0.7194 0.6902 0.6934 0.7906 0.7517 0.7485 0.84 0.9 0.81 0.86 . rs6599230 . . Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Romano-Ward_syndrome|Sick_sinus_syndrome|Brugada_syndrome|Progressive_familial_heart_block|Paroxysmal_familial_ventricular_fibrillation|Dilated_Cardiomyopathy\x2c_Dominant|Long_QT_syndrome RCV000041640.9|RCV000249089.1|RCV000289272.1|RCV000292966.1|RCV000344291.1|RCV000347707.1|RCV000383571.1|RCV000387171.1|RCV000408022.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:SNOMED_CT CN169374|CN230736|CN119492:20852007|C0037052:ORPHA166282:36083008|C1142166:ORPHA130:418818005|CN206278:ORPHA871|C0340493:ORPHA228140:233915000|CN239310|C0023976:9651007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7655 0.8977 0.7155 0.7483 0.6899 0.6952 0.7949 0.7468 0.7495 0.7947 0.8943 0.7255 0.7417 0.7012 0.6997 0.7774 0.7398 hom 1408.76 42 3 38674712 . T C 1408.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.650;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.248;QD=33.54;ReadPosRankSum=1.650;VQSLOD=9.0126;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,41:42:99:1442,117,0 3 38739574 38739574 T C exonic SCN10A nonsynonymous SNV SCN10A:NM_001293307:exon26:c.A4843G:p.M1615V,SCN10A:NM_001293306:exon27:c.A5134G:p.M1712V,SCN10A:NM_006514:exon27:c.A5137G:p.M1713V 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs6599241 COSM4590396 23(upper_aerodigestive_tract) Benign not_specified RCV000254499.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.986 0.247 P -2.12 0.002 N -4.81 0.982 D 2.78 0.002 N 0.309 0.370 -0.898 0.482 T 0.000 0.000 T . . . 0.227 0.116 4.957 0.457 0.036 0.235 0.219 N c -0.691 -0.345 1.000 0.517 0.487 0.133 0 5.38 0.772 6.180 0.717 0.069 0.176 1.000 0.715 0.999 0.750 14.472 0.670 Ion transport domain . . 1.0000 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 6941.52 235 3 38739574 . T C 6941.52 Mask AC=2;AF=1.00;AN=2;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.55;MQ0=0;QD=29.54;VQSLOD=9.0348;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,235:235:99:6940,563,0 3 38739845 38739845 A G exonic SCN10A synonymous SNV SCN10A:NM_001293307:exon26:c.T4572C:p.S1524S,SCN10A:NM_001293306:exon27:c.T4863C:p.S1621S,SCN10A:NM_006514:exon27:c.T4866C:p.S1622S 0.92 0.97 0.91 0.95 0.91 0.86 0.9199 0.9606 0.9185 0.9703 0.9342 0.9180 0.9306 0.8703 0.93 0.96 0.92 0.95 0.93 rs6599242 . . Benign not_specified RCV000248921.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9195 0.9601 0.9144 0.9422 0.9700 0.9335 0.9162 0.9211 0.8712 0.9325 0.9633 0.9091 0.9267 0.9685 0.9356 0.9122 0.9196 het 4398.62 246 3 38739845 . A G 4398.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.317;DP=246;DS;Dels=0.00;FS=2.161;HRun=1;HaplotypeScore=6.9679;MQ=59.41;MQ0=0;MQRankSum=1.996;QD=17.88;ReadPosRankSum=-0.974;VQSLOD=3.4951;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,126:246:99:3739,0,3381 3 38763863 38763863 G C exonic SCN10A synonymous SNV SCN10A:NM_001293307:exon18:c.C3099G:p.T1033T,SCN10A:NM_001293306:exon19:c.C3390G:p.T1130T,SCN10A:NM_006514:exon19:c.C3393G:p.T1131T 0.22 0.12 0.12 0.38 0.25 0.23 0.2430 0.1359 0.1096 0.3905 0.2743 0.2636 0.2632 0.2301 0.22 0.14 0.26 0.23 0.26 rs6771157 COSM3760069 1(bone);1(large_intestine) Benign not_specified RCV000244131.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2394 0.1322 0.1137 0.3353 0.3895 0.2712 0.2571 0.2440 0.2271 0.2341 0.1394 0.1232 0.3079 0.4056 0.2573 0.2677 0.2648 het 3159.66 250 3 38763863 . G C 3159.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.541;DP=250;DS;Dels=0.00;FS=4.282;HRun=0;HaplotypeScore=4.0376;MQ=59.45;MQ0=0;MQRankSum=-0.202;QD=12.64;ReadPosRankSum=-1.631;VQSLOD=5.0662;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:120,129:250:99:3190,0,3433 3 38766675 38766675 A G exonic SCN10A nonsynonymous SNV SCN10A:NM_001293307:exon16:c.T2924C:p.V975A,SCN10A:NM_001293306:exon17:c.T3215C:p.V1072A,SCN10A:NM_006514:exon17:c.T3218C:p.V1073A 0.76 0.95 0.64 0.82 0.59 0.69 0.6586 0.9072 0.6796 0.8436 0.5514 0.6036 0.6264 0.6564 0.7 0.9 0.6 0.85 0.57 rs6795970 . . Benign not_specified RCV000249220.2 MedGen CN169374 Electrocardiographic traits . -5.17 20062063 rs6795970 4E-9 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P 0.55 0.145 N -3.69 0.953 D 0.51 0.029 N 0.004 0.003 -0.912 0.467 T 0.000 0.000 T . . . -0.943 0.034 0.021 0.538 0.049 0.003 0.017 N c -1.612 -1.642 1.000 0.517 0.487 0.133 0 -4.56 0.032 -1.044 0.036 -0.733 0.036 0.000 0.063 0.010 0.111 0.783 0.010 Sodium ion transport-associated . . 0.6508 0.9122 0.6879 0.5802 0.8484 0.5494 0.6030 0.6201 0.6449 0.7048 0.9093 0.6957 0.6192 0.8673 0.5289 0.6167 0.6237 hom 2384.05 80 3 38766675 . A G 2384.05 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.9117;MQ=59.42;MQ0=0;QD=29.80;VQSLOD=8.7998;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:80:99:2417,187,0 3 38766701 38766701 C T exonic SCN10A synonymous SNV SCN10A:NM_001293307:exon16:c.G2898A:p.T966T,SCN10A:NM_001293306:exon17:c.G3189A:p.T1063T,SCN10A:NM_006514:exon17:c.G3192A:p.T1064T 0.12 0.2 0.14 0.002 0.13 0.089 0.1256 0.2073 0.1187 0.0007 0.1107 0.1411 0.1109 0.0883 0.16 0.2 0.14 0.12 0.14 rs6791171 COSM5021387 1(bone) Benign not_specified RCV000243642.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1217 0.2041 0.1224 0.0869 0.0005 0.1068 0.1448 0.1180 0.0863 0.1534 0.2130 0.1444 0.1093 0.0006 0.0999 0.1510 0.1235 het 978.74 72 3 38766701 . C T 978.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.797;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.407;QD=13.59;ReadPosRankSum=-0.068;VQSLOD=12.3940;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,39:72:99:1009,0,771 3 38768247 38768247 G A exonic SCN10A synonymous SNV SCN10A:NM_001293307:exon15:c.C2643T:p.G881G,SCN10A:NM_001293306:exon16:c.C2937T:p.G979G,SCN10A:NM_006514:exon16:c.C2937T:p.G979G 0.19 0.015 0.11 0.37 0.25 0.23 0.2350 0.0452 0.1043 0.3922 0.2736 0.2635 0.2539 0.2315 0.19 0.051 0.26 0.21 0.26 rs59468016 COSM3760071 1(large_intestine) Benign not_specified RCV000251852.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2328 0.0412 0.1073 0.3350 0.3893 0.2700 0.2571 0.2382 0.2290 0.2070 0.0493 0.1181 0.2947 0.4061 0.2547 0.2661 0.2572 het 1506.91 121 3 38768247 . G A 1506.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.821;DP=121;Dels=0.00;FS=0.698;HRun=0;HaplotypeScore=2.4938;MQ=58.88;MQ0=0;MQRankSum=0.533;QD=12.45;ReadPosRankSum=0.685;VQSLOD=6.2990;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,58:121:99:1537,0,1458 3 38768300 38768300 T C exonic SCN10A nonsynonymous SNV SCN10A:NM_001293307:exon15:c.A2590G:p.I864V,SCN10A:NM_001293306:exon16:c.A2884G:p.I962V,SCN10A:NM_006514:exon16:c.A2884G:p.I962V 0.21 0.086 0.12 0.37 0.25 0.23 0.2409 0.1082 0.1068 0.3919 0.2734 0.2642 0.2550 0.2318 0.21 0.11 0.26 0.22 0.26 rs57326399 COSM1131456 1(pancreas);1(prostate);4(large_intestine);1(biliary_tract) Benign not_specified RCV000247107.2 MedGen CN169374 . . . . . . 0.117 0.282 T 0.437 0.340 B 0.17 0.336 B 0.000 0.004 N 1 0.090 P 0.87 0.215 L -1.77 0.837 D 0.18 0.050 N 0.05 0.031 -1.095 0.048 T 0.000 0.000 T . . . -1.544 0.016 0.002 0.344 0.021 0.064 0.122 N c -1.324 -1.404 1.000 0.747 0.526 0.212 0 -4.17 0.036 0.434 0.211 -0.205 0.101 0.001 0.137 0.965 0.450 6.362 0.205 Sodium ion transport-associated . . 0.2373 0.1021 0.1103 0.3373 0.3890 0.2701 0.2575 0.2402 0.2290 0.2240 0.1092 0.1205 0.2947 0.4057 0.2547 0.2662 0.2597 het 1659.38 113 3 38768300 . T C 1659.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.226;DP=113;Dels=0.00;FS=3.478;HRun=0;HaplotypeScore=0.9983;MQ=58.93;MQ0=0;MQRankSum=0.216;QD=14.68;ReadPosRankSum=-0.089;VQSLOD=5.5919;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,62:113:99:1689,0,1402 3 38793989 38793989 G A exonic SCN10A synonymous SNV SCN10A:NM_001293306:exon11:c.C1476T:p.L492L,SCN10A:NM_006514:exon11:c.C1476T:p.L492L 0.21 0.079 0.11 0.37 0.25 0.24 0.2430 0.1118 0.1022 0.4016 0.2684 0.2599 0.2603 0.2592 0.2 0.11 0.25 0.25 0.26 rs7617919 COSM3760072 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000251351.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2328 0.1002 0.1051 0.3329 0.3907 0.2613 0.2507 0.2344 0.2314 0.2179 0.1063 0.1184 0.2914 0.4068 0.2454 0.2585 0.2469 het 462.62 45 3 38793989 . G A 462.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.283;DP=45;Dels=0.00;FS=10.170;HRun=1;HaplotypeScore=0.7887;MQ=59.17;MQ0=0;MQRankSum=1.487;QD=10.28;ReadPosRankSum=-1.416;VQSLOD=4.1883;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,17:45:99:493,0,737 3 38798171 38798171 C T exonic SCN10A synonymous SNV SCN10A:NM_001293306:exon9:c.G1284A:p.E428E,SCN10A:NM_001293307:exon9:c.G1284A:p.E428E,SCN10A:NM_006514:exon9:c.G1284A:p.E428E 0.21 0.079 0.11 0.37 0.25 0.24 0.2344 0.1052 0.1011 0.3974 0.2622 0.2542 0.2456 0.2319 0.2 0.11 0.25 0.25 0.25 rs62244070 COSM4158017 1(breast);1(thyroid) Benign not_specified RCV000246606.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2305 0.1000 0.1050 0.3298 0.3918 0.2586 0.2474 0.2307 0.2287 0.2167 0.1055 0.1158 0.2914 0.4045 0.2448 0.2567 0.2469 het 2747.96 213 3 38798171 . C T 2747.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.566;DP=213;Dels=0.00;FS=5.920;HRun=1;HaplotypeScore=2.7220;MQ=59.13;MQ0=0;MQRankSum=1.857;QD=12.90;ReadPosRankSum=1.512;VQSLOD=4.0108;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,110:213:99:2778,0,2828 3 38945560 38945560 A G exonic SCN11A synonymous SNV SCN11A:NM_014139:exon12:c.T1638C:p.C546C,SCN11A:NM_001349253:exon16:c.T1638C:p.C546C 0.61 0.49 0.69 0.64 0.65 0.67 0.6515 0.5021 0.7089 0.6340 0.6778 0.6589 0.5888 0.6798 0.61 0.52 0.65 0.54 0.63 rs4073113 COSM4002675 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000254125.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6511 0.5060 0.7036 0.5697 0.6277 0.6747 0.6598 0.6361 0.6631 0.6042 0.4978 0.6806 0.5795 0.5996 0.6621 0.6480 0.6260 hom 3233.06 96 3 38945560 . A G 3233.06 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.68;VQSLOD=14.2746;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3266,256,0 3 39180099 39180099 T C exonic TTC21A synonymous SNV TTC21A:NM_001105513:exon27:c.T3726C:p.I1242I,TTC21A:NM_145755:exon28:c.T3870C:p.I1290I 0.71 0.52 0.74 0.77 0.77 0.81 0.7502 0.5769 0.7563 0.7714 0.7903 0.7579 0.7189 0.7920 0.7 0.61 0.75 0.6 0.74 rs784498 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7527 0.5718 0.7578 0.7118 0.7642 0.7943 0.7588 0.7451 0.7925 0.7058 0.5929 0.7601 0.7318 0.7460 0.7815 0.7444 0.7271 hom 5282.27 188 3 39180099 . T C 5282.27 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.677;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7318;MQ=59.25;MQ0=0;MQRankSum=1.087;QD=28.10;ReadPosRankSum=-1.529;VQSLOD=7.7803;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,187:188:99:5281,427,0 3 39180263 39180263 G A exonic TTC21A nonsynonymous SNV TTC21A:NM_001105513:exon28:c.G3803A:p.R1268K,TTC21A:NM_145755:exon29:c.G3947A:p.R1316K 0.55 0.16 0.66 0.73 0.67 0.69 0.6450 0.2371 0.6982 0.7464 0.6952 0.6701 0.6217 0.6751 0.54 0.26 0.66 0.4 0.59 rs704959 . . . . . . . . . . . . . 0.612 0.059 T 0.0 0.026 B 0.001 0.063 B 0.007 0.316 N 0.999 0.222 P 0.46 0.130 N 0.2 0.601 T -0.06 0.079 N 0.025 0.012 -0.924 0.451 T 0.000 0.000 T . . . 1.705 0.266 14.44 0.957 0.270 0.732 0.355 D c -0.478 -0.275 1.000 0.747 0.660 0.495 0 4.41 0.524 1.096 0.304 0.142 0.226 0.941 0.324 0.981 0.494 4.388 0.107 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain ENSG00000168026.12|ENSG00000168026.12|ENSG00000114742.9|ENSG00000168026.12|ENSG00000168026.12|ENSG00000168026.12 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid 0.6492 0.2275 0.6932 0.6199 0.7418 0.6881 0.6679 0.6421 0.6731 0.5390 0.2321 0.6782 0.6225 0.7277 0.6766 0.6501 0.6232 hom 1892.82 59 3 39180263 . G A 1892.82 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.08;VQSLOD=14.0627;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1926,150,0 3 39184959 39184959 C T exonic CSRNP1 nonsynonymous SNV CSRNP1:NM_001320559:exon5:c.G1417A:p.V473I,CSRNP1:NM_001320560:exon5:c.G1357A:p.V453I,CSRNP1:NM_033027:exon5:c.G1357A:p.V453I 0.78 0.8 0.77 0.77 0.77 0.81 0.7698 0.7933 0.7688 0.7674 0.7892 0.7594 0.7351 0.7928 0.77 0.81 0.75 0.71 0.74 rs1274958 COSM4158020 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.043 0.238 N 1 0.090 P -1.11 0.010 N 1.03 0.405 T -0.18 0.098 N 0.014 0.002 -0.985 0.339 T 0.000 0.000 T . . . 0.084 0.102 3.442 0.567 0.055 0.092 0.148 N c -1.409 -1.254 1.000 0.747 0.672 0.522 0 0.7 0.172 0.260 0.181 0.154 0.240 0.115 0.229 0.961 0.442 4.341 0.105 . ENSG00000168026.12|ENSG00000168026.12|ENSG00000114742.9|ENSG00000168026.12|ENSG00000168026.12|ENSG00000168026.12|ENSG00000168026.12 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Pancreas|Testis|Thyroid 0.7696 0.7966 0.7708 0.7165 0.7624 0.7939 0.7604 0.7579 0.7936 0.7626 0.7898 0.7709 0.7450 0.7485 0.7815 0.7454 0.7393 hom 2939.44 91 3 39184959 . C T 2939.44 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9739;MQ=59.49;MQ0=0;QD=32.30;VQSLOD=9.4661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2972,244,0 3 39185077 39185077 G A exonic CSRNP1 synonymous SNV CSRNP1:NM_001320559:exon5:c.C1299T:p.S433S,CSRNP1:NM_001320560:exon5:c.C1239T:p.S413S,CSRNP1:NM_033027:exon5:c.C1239T:p.S413S 0.49 0.12 0.62 0.57 0.66 0.65 0.6099 0.1840 0.6368 0.6000 0.6882 0.6570 0.5993 0.6416 0.5 0.2 0.65 0.36 0.61 rs1274957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6172 0.1788 0.6405 0.6171 0.5909 0.6817 0.6551 0.6208 0.6402 0.5094 0.1914 0.6208 0.61 0.5627 0.6675 0.6382 0.6047 hom 3982.72 134 3 39185077 . G A 3982.72 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.388;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5876;MQ=59.52;MQ0=0;MQRankSum=-1.600;QD=29.72;ReadPosRankSum=-1.573;VQSLOD=6.8211;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,130:134:99:3943,295,0 3 39185248 39185248 A G exonic CSRNP1 synonymous SNV CSRNP1:NM_001320559:exon5:c.T1128C:p.S376S,CSRNP1:NM_001320560:exon5:c.T1068C:p.S356S,CSRNP1:NM_033027:exon5:c.T1068C:p.S356S 0.91 0.93 0.94 0.89 0.89 0.89 0.8847 0.9265 0.9548 0.8968 0.8481 0.8688 0.8742 0.8821 0.89 0.93 0.87 0.9 0.85 rs784519 COSM4158021 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8864 0.9285 0.9520 0.8355 0.8969 0.8507 0.8722 0.8869 0.8814 0.8794 0.9288 0.9344 0.8576 0.9006 0.8452 0.8559 0.8452 hom 2550.17 75 3 39185248 . A G 2550.17 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.00;VQSLOD=14.2082;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2583,199,0 3 39186728 39186728 C T exonic CSRNP1 synonymous SNV CSRNP1:NM_001320559:exon3:c.G285A:p.R95R,CSRNP1:NM_001320560:exon3:c.G225A:p.R75R,CSRNP1:NM_033027:exon3:c.G225A:p.R75R 0.46 0.12 0.59 0.56 0.58 0.6 0.5603 0.1820 0.6117 0.5872 0.6426 0.5852 0.5554 0.6147 0.44 0.2 0.56 0.36 0.45 rs784517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5635 0.1732 0.6142 0.5234 0.5786 0.6399 0.5796 0.5674 0.5945 0.4684 0.1823 0.6094 0.5232 0.5569 0.6344 0.5712 0.5697 het 916.38 59 3 39186728 . C T 916.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.063;DP=59;Dels=0.00;FS=12.530;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.130;QD=15.53;ReadPosRankSum=0.790;VQSLOD=3.3917;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,34:59:99:946,0,621 3 39226127 39226127 C T exonic XIRP1 nonsynonymous SNV XIRP1:NM_001351377:exon2:c.G859A:p.G287R,XIRP1:NM_194293:exon2:c.G4810A:p.G1604R 0.13 0.012 0.14 0.14 0.22 0.18 0.1975 0.0444 0.1456 0.1509 0.2422 0.2306 0.1927 0.2035 0.16 0.047 0.22 0.11 0.2 rs3732383 COSM4002679 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.755 0.035 T 0.003 0.102 B 0.001 0.040 B 0.160 0.030 N 1 0.090 P -0.29 0.037 N 4.1 0.155 T 0.95 0.039 N 0.029 0.018 -0.966 0.380 T 0.000 0.000 T . . . -0.376 0.063 0.441 0.522 0.046 0.029 0.077 N c -1.389 -1.365 1.000 0.747 0.534 0.214 0 0.238 0.147 0.815 0.267 -1.155 0.017 0.001 0.137 0.000 0.016 6.942 0.235 . . . 0.1952 0.0418 0.1397 0.2075 0.1473 0.2353 0.2295 0.1878 0.2027 0.1776 0.0440 0.1459 0.1987 0.1483 0.2456 0.2402 0.2383 het 4130.62 250 3 39226127 . C T 4130.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.024;DP=250;DS;Dels=0.00;FS=0.466;HRun=0;HaplotypeScore=6.7347;MQ=59.51;MQ0=0;MQRankSum=2.652;QD=16.52;ReadPosRankSum=-1.622;VQSLOD=2.9914;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:129,121:250:99:3465,0,3438 3 39227664 39227664 G A exonic XIRP1 synonymous SNV XIRP1:NM_001198621:exon2:c.C3273T:p.D1091D,XIRP1:NM_194293:exon2:c.C3273T:p.D1091D 0.1 0.0091 0.1 0.061 0.2 0.16 0.1677 0.0395 0.0732 0.0647 0.2343 0.2097 0.1737 0.1713 0.15 0.042 0.2 0.076 0.2 rs61736155 COSM4406975 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1642 0.0367 0.0752 0.1988 0.0624 0.2266 0.2062 0.1657 0.1726 0.1574 0.0383 0.0883 0.1821 0.0605 0.2320 0.2199 0.2118 het 1241.87 96 3 39227664 . G A 1241.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.555;DP=96;Dels=0.00;FS=2.854;HRun=0;HaplotypeScore=1.4725;MQ=57.72;MQ0=0;MQRankSum=0.115;QD=12.94;ReadPosRankSum=-0.078;VQSLOD=4.3794;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,47:96:99:1272,0,1163 3 39228043 39228043 T G exonic XIRP1 nonsynonymous SNV XIRP1:NM_001198621:exon2:c.A2894C:p.H965P,XIRP1:NM_194293:exon2:c.A2894C:p.H965P 0.1 0.0091 0.1 0.061 0.2 0.16 0.1696 0.0387 0.0736 0.0649 0.2353 0.2128 0.1771 0.1732 0.14 0.039 0.19 0.076 0.17 rs11711871 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.135 0.185 N 1 0.090 P -2.6 0.000 N 3.66 0.043 T 1.1 0.013 N 0.059 0.065 -0.951 0.409 T 0.000 0.000 T . . . -1.893 0.009 0.002 0.147 0.003 0.012 0.042 N c -1.279 -1.096 1.000 0.404 0.554 0.246 0 3.2 0.357 0.228 0.175 0.136 0.221 0.000 0.063 0.167 0.209 4.125 0.095 . . . 0.1658 0.0370 0.0758 0.1987 0.0624 0.2270 0.2097 0.1670 0.1738 0.1590 0.0389 0.0907 0.1821 0.0606 0.2325 0.2226 0.2121 het 1270.61 109 3 39228043 . T G 1270.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.120;DP=109;Dels=0.00;FS=3.651;HRun=3;HaplotypeScore=1.6609;MQ=58.81;MQ0=0;MQRankSum=1.112;QD=11.66;ReadPosRankSum=0.422;VQSLOD=5.4665;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,47:109:99:1301,0,1592 3 39229900 39229900 T C exonic XIRP1 nonsynonymous SNV XIRP1:NM_001198621:exon2:c.A1037G:p.Q346R,XIRP1:NM_194293:exon2:c.A1037G:p.Q346R 0.99 0.98 1. 1. 1. 1. 0.9983 0.9813 0.9991 1 1 0.9999 0.9978 0.9999 0.99 0.98 1. 0.99 0.95 rs6805248 . . . . . . . . . . . . . 0.93 0.022 T 0.0 0.026 B 0.0 0.013 B 0.018 0.277 N 1 0.392 P -0.895 0.014 N 3.73 0.040 T 1.38 0.009 N 0.045 0.041 -0.988 0.331 T 0.000 0.000 T . . . -0.587 0.051 0.135 0.445 0.034 0.093 0.149 N c -0.797 -0.558 0.999 0.392 0.554 0.246 0 3.06 0.342 1.605 0.362 0.069 0.176 0.926 0.319 0.994 0.587 7.667 0.274 . . . 0.9988 0.9829 0.9994 1 1 1 1.0000 0.9991 0.9999 0.9955 0.9841 0.9988 1 1 1 1 1 hom 5808.63 193 3 39229900 . T C 5808.63 Mask AC=2;AF=1.00;AN=2;DP=193;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6482;MQ=59.01;MQ0=0;QD=30.10;VQSLOD=8.5036;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:5807,487,0 3 39323163 39323163 A C exonic CX3CR1 nonsynonymous SNV CX3CR1:NM_001171174:exon1:c.T24G:p.F8L 0.42 0.17 0.49 0.69 0.41 0.46 0.4235 0.2177 0.5087 0.6896 0.4417 0.3941 0.4439 0.4486 0.33 0.2 0.39 0.37 . rs11715522 COSM4158022 1(thyroid) . . . . . . . . . . . 0.861 0.027 T . . . . . . . . . 1 0.090 P . . . -0.06 0.636 T -0.04 0.076 N 0.037 0.017 -0.957 0.397 T 0.000 0.000 T . . . -0.149 0.080 1.391 0.658 0.076 0.004 0.021 N c -0.957 -1.161 1.000 0.427 0.487 0.133 0 -2.35 0.063 -1.126 0.033 -0.241 0.092 0.000 0.063 0.000 0.016 4.902 0.130 . ENSG00000168028.9|ENSG00000168028.9|ENSG00000168028.9|ENSG00000168028.9|ENSG00000168329.9|ENSG00000168028.9|ENSG00000168028.9 Adipose_Visceral_Omentum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Lung|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.4201 0.2059 0.4934 0.3465 0.6778 0.4403 0.3864 0.4194 0.4354 0.3599 0.2162 0.4714 0.3933 0.6658 0.4493 0.3796 0.4059 het 485.04 24 3 39323163 . A C 485.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.664;DP=24;Dels=0.00;FS=1.893;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=1.255;QD=20.21;ReadPosRankSum=1.378;VQSLOD=4.3356;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,16:24:99:515,0,150 3 39373902 39373902 C G exonic CCR8 nonsynonymous SNV CCR8:NM_005201:exon2:c.C80G:p.A27G 0.13 0.1 0.16 0.002 0.3 0.1 0.2154 0.1359 0.1125 0.0010 0.2510 0.2910 0.1949 0.1316 0.25 0.14 0.3 0.17 0.29 rs2853699 COSM3736318 1(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . 0.196 0.207 T 0.0 0.026 B 0.001 0.040 B 0.141 0.029 N 1 0.090 P 0 0.065 N 2.09 0.201 T 0.01 0.069 N 0.019 0.012 -1.034 0.193 T 0.000 0.000 T . . . -0.721 0.044 0.064 0.603 0.063 0.025 0.069 N c -1.605 -1.620 1.000 0.451 0.615 0.372 0 -3.17 0.049 -0.915 0.041 -1.712 0.008 0.000 0.063 0.005 0.090 2.32 0.039 . ENSG00000179934.5|ENSG00000228168.1 Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes 0.2133 0.1275 0.1219 0.2286 0.0008 0.2426 0.2993 0.2283 0.1346 0.2303 0.1394 0.1471 0.2086 0.0012 0.2476 0.3067 0.2663 het 2044.23 171 3 39373902 . C G 2044.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.750;DP=171;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=0.355;QD=11.95;ReadPosRankSum=-1.002;VQSLOD=6.1548;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,77:171:99:2074,0,2367 3 39431081 39431081 G A exonic SLC25A38 synonymous SNV SLC25A38:NM_017875:exon2:c.G165A:p.L55L 0.42 0.083 0.5 0.61 0.51 0.51 0.4820 0.1337 0.5625 0.6216 0.5691 0.4935 0.5033 0.4893 0.37 0.14 0.48 0.32 0.39 rs2270770 COSM5618913 1(breast) Benign|Benign|Benign not_specified|Hereditary_sideroblastic_anemia|Refractory_anemia_with_ringed_sideroblasts_(clinical) RCV000286235.2|RCV000317815.1|RCV000372560.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0221018:300751:ORPHA75563:62677000|C1264195:109998009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4931 0.1299 0.5577 0.4236 0.6202 0.5786 0.4953 0.4876 0.4853 0.4162 0.1398 0.5322 0.4470 0.5975 0.5811 0.5053 0.5143 het 1725.96 144 3 39431081 . G A 1725.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.976;DP=144;Dels=0.00;FS=0.624;HRun=0;HaplotypeScore=4.3368;MQ=58.12;MQ0=0;MQRankSum=1.508;QD=11.99;ReadPosRankSum=0.474;VQSLOD=5.0220;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,72:144:99:1756,0,1890 3 40231883 40231883 C T exonic MYRIP synonymous SNV MYRIP:NM_001284426:exon8:c.C1033T:p.L345L,MYRIP:NM_001284425:exon9:c.C1327T:p.L443L,MYRIP:NM_001284423:exon10:c.C1594T:p.L532L,MYRIP:NM_001284424:exon10:c.C1594T:p.L532L,MYRIP:NM_015460:exon10:c.C1594T:p.L532L 0.83 0.75 0.92 0.8 0.9 0.84 0.8845 0.7657 0.9142 0.8009 0.9189 0.9108 0.9192 0.8602 0.86 0.77 0.9 0.79 0.61 rs1317317 COSM4005538 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8883 0.7600 0.9168 0.8917 0.8082 0.9205 0.9095 0.8906 0.8641 0.8637 0.7653 0.9111 0.8874 0.8109 0.9196 0.9085 0.8931 hom 1916.29 60 3 40231883 . C T 1916.29 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6889;MQ=58.08;MQ0=1;QD=31.94;VQSLOD=7.3753;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1949,159,0 3 40286017 40286017 T C exonic MYRIP synonymous SNV MYRIP:NM_001284426:exon11:c.T1620C:p.S540S,MYRIP:NM_001284424:exon12:c.T1986C:p.S662S,MYRIP:NM_001284425:exon12:c.T1914C:p.S638S,MYRIP:NM_001284423:exon13:c.T2181C:p.S727S,MYRIP:NM_015460:exon13:c.T2181C:p.S727S 0.65 0.8 0.47 0.76 0.43 0.69 0.5204 0.7489 0.4706 0.7552 0.4188 0.4393 0.5364 0.6552 0.54 0.74 0.44 0.66 0.42 rs4618168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5127 0.7485 0.4630 0.5845 0.7657 0.4184 0.4318 0.5055 0.6474 0.5336 0.7489 0.4547 0.5530 0.7562 0.4080 0.4209 0.4847 het 1300.52 84 3 40286017 . T C 1300.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.806;DP=84;Dels=0.00;FS=0.865;HRun=0;HaplotypeScore=0.9983;MQ=59.73;MQ0=0;MQRankSum=-1.758;QD=15.48;ReadPosRankSum=-0.568;VQSLOD=5.7304;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,51:84:99:1331,0,801 3 40468896 40468896 C T exonic ENTPD3 nonsynonymous SNV ENTPD3:NM_001248:exon11:c.C1487T:p.A496V,ENTPD3:NM_001291960:exon11:c.C1487T:p.A496V 0.28 0.038 0.29 0.49 0.29 0.37 0.3119 0.0785 0.3513 0.4766 0.3525 0.2982 0.3687 0.3812 0.23 0.085 0.3 0.22 0.29 rs1047855 COSM4158023 1(thyroid) . . . . . . . . . . . 0.475 0.083 T 0.004 0.112 B 0.002 0.063 B 0.278 0.150 N 1 0.090 P 0.345 0.112 N 2.94 0.098 T 0.32 0.040 N 0.079 0.071 -0.936 0.432 T 0.000 0.000 T . . . 0.751 0.166 9.154 0.741 0.102 0.100 0.154 N c -1.317 -1.307 0.552 0.213 0.487 0.133 0 -1.64 0.078 0.355 0.198 0.065 0.171 0.033 0.204 0.087 0.184 5.608 0.166 . ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000168032.4|ENSG00000223797.1|ENSG00000168032.4|ENSG00000230274.1|ENSG00000177873.8|ENSG00000168032.4|ENSG00000223797.1|ENSG00000223797.1|ENSG00000188846.9|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000188846.9|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000223797.1|ENSG00000230274.1|ENSG00000223797.1|ENSG00000188846.9|ENSG00000223797.1|ENSG00000230274.1|ENSG00000272452.1|ENSG00000223797.1|ENSG00000188846.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3185 0.0716 0.3456 0.3102 0.4847 0.3553 0.2951 0.3235 0.3783 0.2535 0.0786 0.3329 0.3 0.4831 0.3449 0.3011 0.3020 het 2026.51 168 3 40468896 . C T 2026.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.123;DP=168;Dels=0.00;FS=5.599;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.455;QD=12.06;ReadPosRankSum=-1.812;VQSLOD=4.9470;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,76:168:99:2057,0,2473 3 40503520 40503520 - CTGCTG exonic RPL14 nonframeshift insertion RPL14:NM_001034996:exon6:c.445_446insCTGCTG:p.A159_K160insAA,RPL14:NM_003973:exon6:c.445_446insCTGCTG:p.A159_K160insAA 0.071 0.033 0.082 0.11 0.033 0.11 . . . . . . . . . . . . . rs57354599 COSM1044560 1(ovary);1(urinary_tract);2(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1856 0.1047 0.3875 0.0690 0.4929 0.2580 0.1701 0.2087 hom 657.93 24 3 40503520 . A ACTGCTG 657.93 Mask AC=2;AF=1.00;AN=2;DP=24;FS=0.000;HRun=0;HaplotypeScore=169.9255;MQ=30.91;MQ0=1;QD=22.69;set=variant2 GT:AD:DP:GQ:PL 1/1:24,5:24:24.08:700,24,0 3 41756965 41756965 C T exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon23:c.G1645A:p.V549I,ULK4:NM_001322500:exon24:c.G2551A:p.V851I,ULK4:NM_017886:exon24:c.G2551A:p.V851I 0.27 0.53 0.16 0.15 0.18 0.18 0.1975 0.4870 0.1082 0.1793 0.2346 0.1732 0.2144 0.1797 0.27 0.47 0.17 0.33 0.16 rs61744388 COSM3760080;COSM3760079 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.442 0.092 T 0.002 0.090 B 0.005 0.104 B 0.060 0.223 N 1 0.090 P 0.99 0.251 L -0.01 0.628 T -0.29 0.117 N 0.041 0.021 -0.973 0.365 T 0.000 0.000 T . . . -0.530 0.054 0.185 0.720 0.095 0.025 0.069 N c -1.898 -1.973 1.000 0.747 0.638 0.428 0 -10.1 0.003 -0.870 0.043 -1.957 0.005 0.000 0.063 0.034 0.151 25.247 1.000 Armadillo-like helical ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.1920 0.4925 0.1182 0.1827 0.1834 0.2275 0.1711 0.2033 0.1793 0.2662 0.4830 0.1160 0.2086 0.1828 0.2199 0.1742 0.2065 het 1370.32 137 3 41756965 . C T 1370.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.799;DP=137;Dels=0.00;FS=3.157;HRun=0;HaplotypeScore=3.2355;MQ=59.32;MQ0=0;MQRankSum=-1.030;QD=10.00;ReadPosRankSum=-1.047;VQSLOD=4.7084;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,55:137:99:1400,0,2273 3 41756986 41756986 A T exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon23:c.T1624A:p.L542M,ULK4:NM_001322500:exon24:c.T2530A:p.L844M,ULK4:NM_017886:exon24:c.T2530A:p.L844M 0.27 0.53 0.16 0.15 0.18 0.18 0.1975 0.4871 0.1083 0.1793 0.2349 0.1732 0.2144 0.1797 0.27 0.47 0.17 0.33 0.16 rs61744385 COSM3760081 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.965 0.021 T 0.001 0.067 B 0.003 0.080 B 0.019 0.273 N 1 0.090 P -0.715 0.018 N 0.66 0.524 T 0.61 0.025 N 0.07 0.058 -0.950 0.410 T 0.000 0.000 T . . . 0.701 0.161 8.832 0.795 0.124 0.015 0.050 N c -1.481 -1.360 0.605 0.217 0.638 0.428 0 -1.82 0.074 0.143 0.158 -0.225 0.096 0.311 0.252 0.992 0.562 4.479 0.111 Armadillo-like helical ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.1920 0.4923 0.1182 0.1826 0.1834 0.2275 0.1712 0.2030 0.1793 0.2660 0.4831 0.1184 0.2033 0.1820 0.2196 0.1738 0.2065 het 1355.15 130 3 41756986 . A T 1355.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.687;DP=130;Dels=0.00;FS=2.311;HRun=0;HaplotypeScore=6.2812;MQ=59.29;MQ0=0;MQRankSum=-0.524;QD=10.42;ReadPosRankSum=-0.232;VQSLOD=4.4184;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,53:130:99:1385,0,1976 3 41831203 41831203 C T exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon20:c.G1237A:p.A413T,ULK4:NM_001322500:exon21:c.G2143A:p.A715T,ULK4:NM_017886:exon21:c.G2143A:p.A715T 0.082 0.055 0.088 0.002 0.17 0.11 0.1241 0.0662 0.0710 0.0005 0.2008 0.1507 0.1422 0.1210 0.12 0.066 0.15 0.11 0.11 rs17215589 COSM3760082 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.002 0.381 N 1.000 0.197 P 0.2 0.092 N -0.19 0.659 T 0.67 0.023 N 0.075 0.065 -1.056 0.127 T 0.000 0.000 T . . . 2.255 0.332 17.87 0.199 0.007 0.156 0.188 N c -1.132 -0.960 0.635 0.220 0.615 0.372 0 2.31 0.277 -0.183 0.096 0.154 0.240 0.752 0.289 0.972 0.466 4.546 0.114 Armadillo-like helical|Armadillo-type fold ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.1242 0.0632 0.0774 0.1407 0.0005 0.1956 0.1502 0.1420 0.1189 0.1229 0.0699 0.0752 0.1457 0.0006 0.1829 0.1529 0.1589 het 1744.42 161 3 41831203 . C T 1744.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.151;DP=161;Dels=0.00;FS=2.028;HRun=0;HaplotypeScore=1.8533;MQ=58.45;MQ0=0;MQRankSum=1.860;QD=10.83;ReadPosRankSum=0.528;VQSLOD=5.8102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,72:161:99:1774,0,2154 3 41841716 41841716 A C exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon19:c.T1012G:p.S338A,ULK4:NM_001322500:exon20:c.T1918G:p.S640A,ULK4:NM_017886:exon20:c.T1918G:p.S640A 0.87 0.99 0.92 0.75 0.82 0.84 0.8512 0.9719 0.9355 0.7862 0.7802 0.8375 0.81 0.8409 0.88 0.97 0.84 0.89 0.83 rs4973986 COSM4415122 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455782.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.037 0.245 N 1.000 0.090 P -1.525 0.005 N -0.09 0.641 T 1.04 0.013 N 0.051 0.032 -0.929 0.443 T 0.000 0.000 T . . . 1.212 0.211 11.81 0.447 0.034 0.262 0.227 N c -0.735 -0.434 0.030 0.139 0.615 0.372 0 5.32 0.753 2.214 0.423 0.067 0.174 1.000 0.715 0.976 0.476 15.852 0.786 Armadillo-like helical|Armadillo-type fold . . 0.8507 0.9725 0.9302 0.8926 0.7803 0.7749 0.8347 0.8523 0.8426 0.8625 0.9692 0.9093 0.8709 0.7876 0.7815 0.8255 0.8473 hom 6748.41 221 3 41841716 . A C 6748.41 Mask AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2973;MQ=57.74;MQ0=0;QD=30.54;VQSLOD=6.1033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,219:221:99:6712,509,0 3 41877414 41877414 T C exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon17:c.A800G:p.K267R,ULK4:NM_001322500:exon18:c.A1706G:p.K569R,ULK4:NM_017886:exon18:c.A1706G:p.K569R 0.17 0.2 0.14 0.15 0.18 0.18 0.1714 0.2075 0.1026 0.1773 0.2282 0.1696 0.1922 0.1787 0.18 0.21 0.17 0.22 0.14 rs3774372 COSM3760083 2(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . Blood pressure . -0.3 21909110 rs3774372 8E-7 0.322 0.135 T 0.78 0.423 P 0.288 0.389 B 0.000 0.629 U 0.108 0.360 P 1.74 0.453 L -0.1 0.643 T -1.31 0.328 N 0.298 0.358 -1.069 0.096 T 0.000 0.000 T . . . 2.842 0.402 21.6 0.996 0.756 0.888 0.486 D c 0.172 0.291 0.999 0.380 0.554 0.246 0 5.48 0.806 4.278 0.585 0.964 0.580 1.000 0.715 0.993 0.574 14.100 0.644 Armadillo-like helical|Armadillo-type fold ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.1689 0.2035 0.1120 0.1632 0.1800 0.2217 0.1672 0.1827 0.1751 0.1821 0.2057 0.1070 0.1812 0.1797 0.2086 0.1667 0.1839 het 2134.39 152 3 41877414 . T C 2134.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.645;DP=152;DS;Dels=0.00;FS=15.301;HRun=0;HaplotypeScore=3.6671;MQ=58.02;MQ0=0;MQRankSum=1.233;QD=14.04;ReadPosRankSum=0.514;VQSLOD=3.0737;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,74:152:99:2164,0,2187 3 41925398 41925398 C T exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon16:c.G718A:p.A240T,ULK4:NM_001322500:exon17:c.G1624A:p.A542T,ULK4:NM_017886:exon17:c.G1624A:p.A542T 0.69 0.3 0.82 0.85 0.81 0.82 0.7885 0.3587 0.8721 0.8232 0.7709 0.8266 0.7778 0.8204 0.68 0.38 0.83 0.56 0.77 rs1052501 COSM4002689;COSM4002690 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454745.1 MedGen CN169374 Multiple myeloma 1.32 . 22120009 rs1052501 2E-8 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.465 0.123 N 1 0.090 P -1.09 0.010 N -0.09 0.641 T 2.23 0.005 N 0.022 0.005 -0.981 0.349 T 0.000 0.000 T . . . 0.043 0.098 3.008 0.212 0.008 0.001 0.006 N c -1.606 -1.477 0.003 0.097 0.638 0.428 0 0.24 0.147 -0.012 0.125 -0.211 0.100 0.008 0.178 0.922 0.397 3.74 0.080 Armadillo-like helical|Armadillo-type fold ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.7952 0.3503 0.8597 0.8168 0.8177 0.7770 0.8283 0.7859 0.8209 0.6902 0.3574 0.8616 0.8079 0.8185 0.7867 0.8288 0.7883 het 1374.88 114 3 41925398 . C T 1374.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.188;DP=114;Dels=0.00;FS=1.508;HRun=1;HaplotypeScore=1.6281;MQ=58.03;MQ0=0;MQRankSum=-0.839;QD=12.06;ReadPosRankSum=-0.312;VQSLOD=5.1720;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,57:114:99:1405,0,1454 3 41925423 41925423 T C exonic ULK4 synonymous SNV ULK4:NM_001322501:exon16:c.A693G:p.V231V,ULK4:NM_001322500:exon17:c.A1599G:p.V533V,ULK4:NM_017886:exon17:c.A1599G:p.V533V 0.92 0.71 0.98 1. 1. 1. 0.9769 0.7632 0.9825 1 0.9991 0.9967 0.9789 0.9992 0.92 0.77 1. 0.85 0.93 rs1716687 . . Benign not_specified RCV000455353.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9795 0.7529 0.9821 0.9813 1 0.9992 0.9971 0.9799 0.9990 0.9314 0.7644 0.9809 0.9901 1 0.9983 0.9980 0.9837 hom 2907.18 100 3 41925423 . T C 2907.18 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.27;MQ0=0;QD=29.07;VQSLOD=8.0697;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:2940,223,0 3 41952852 41952852 T C exonic ULK4 nonsynonymous SNV ULK4:NM_001322501:exon10:c.A136G:p.S46G,ULK4:NM_001322500:exon11:c.A1042G:p.S348G,ULK4:NM_017886:exon11:c.A1042G:p.S348G 0.084 0.064 0.091 0.002 0.17 0.11 0.1244 0.0749 0.0715 0.0005 0.1997 0.1504 0.1411 0.1195 0.13 0.077 0.15 0.11 0.13 rs35263917 COSM3760084 1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.917 0.488 P 0.437 0.438 B 0.275 0.150 N 0.438 0.322 P 2.425 0.705 M 0.42 0.689 T -2.37 0.522 N 0.081 0.074 -1.026 0.217 T 0.001 0.003 T . . . 3.221 0.446 22.7 0.997 0.840 0.944 0.608 D c 0.458 0.465 0.998 0.359 0.615 0.372 0 5.22 0.722 5.773 0.683 0.961 0.567 1.000 0.715 0.187 0.214 14.126 0.646 . ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.1245 0.0726 0.0780 0.1405 0.0005 0.1943 0.1500 0.1408 0.1192 0.1259 0.0808 0.0752 0.1457 0.0006 0.1823 0.1528 0.1592 het 1463.70 106 3 41952852 . T C 1463.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.598;DP=106;Dels=0.00;FS=0.725;HRun=1;HaplotypeScore=3.6906;MQ=59.56;MQ0=0;MQRankSum=-0.522;QD=13.81;ReadPosRankSum=-0.041;VQSLOD=5.4323;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,56:106:99:1494,0,1207 3 41960006 41960006 T C exonic ULK4 nonsynonymous SNV ULK4:NM_001322500:exon7:c.A670G:p.I224V,ULK4:NM_017886:exon7:c.A670G:p.I224V 0.68 0.28 0.8 0.85 0.8 0.83 0.7847 0.3362 0.8671 0.8219 0.7714 0.8230 0.7711 0.8252 0.67 0.34 0.82 0.56 0.8 rs1716975 COSM4158031;COSM4158030 1(thyroid) Benign not_specified RCV000454894.1 MedGen CN169374 . . . . . . 0.536 0.069 T 0.0 0.026 B 0.002 0.063 B 0.419 0.046 N 1 0.090 P 0.76 0.193 N -0.1 0.643 T -0.41 0.140 N 0.017 0.009 -1.004 0.288 T 0.000 0.000 T . . . -1.794 0.011 0.002 0.359 0.023 0.012 0.042 N c -1.562 -1.574 0.960 0.284 0.615 0.372 0 -5.89 0.021 0.135 0.157 -1.720 0.007 0.032 0.204 0.095 0.187 4.223 0.099 Protein kinase domain|Protein kinase-like domain ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.7869 0.3221 0.8507 0.8134 0.8138 0.7754 0.8222 0.7775 0.8222 0.6804 0.3297 0.8566 0.8046 0.8168 0.7867 0.8260 0.7814 het 1727.01 136 3 41960006 . T C 1727.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.409;DP=136;Dels=0.00;FS=2.205;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=0.485;QD=12.70;ReadPosRankSum=1.587;VQSLOD=5.2580;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,70:136:99:1757,0,1457 3 41996136 41996136 T C exonic ULK4 nonsynonymous SNV ULK4:NM_001322500:exon2:c.A116G:p.K39R,ULK4:NM_017886:exon2:c.A116G:p.K39R 0.68 0.28 0.81 0.85 0.81 0.83 0.7869 0.3366 0.8705 0.8237 0.7713 0.8259 0.7717 0.8264 0.68 0.36 0.82 0.58 0.84 rs2272007 COSM1131441;COSM1131440 1(haematopoietic_and_lymphoid_tissue);3(prostate) Benign not_specified RCV000455513.1 MedGen CN169374 Multiple myeloma (hyperdiploidy) 1.47 . 23502783 rs2272007 2E-9 0.32 0.139 T 0.022 0.281 B 0.059 0.314 B 0.000 0.497 N 0.042 0.380 P -0.03 0.050 N -0.19 0.659 T -1.1 0.356 N 0.122 0.141 -1.015 0.253 T 0.000 0.000 T . . . 2.048 0.307 16.52 0.900 0.187 0.923 0.552 D c -0.353 -0.120 1.000 0.401 0.615 0.372 0 4.4 0.522 3.827 0.552 1.058 0.762 1.000 0.715 1.000 0.888 11.703 0.507 Protein kinase domain|Protein kinase-like domain ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000168038.6|ENSG00000234270.1|ENSG00000168038.6|ENSG00000168038.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.7933 0.3270 0.8569 0.8169 0.8175 0.7773 0.8272 0.7824 0.8253 0.6825 0.3308 0.8612 0.8079 0.8199 0.7864 0.8288 0.7847 het 2931.55 215 3 41996136 . T C 2931.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.999;DP=215;Dels=0.00;FS=0.502;HRun=0;HaplotypeScore=8.7157;MQ=58.41;MQ0=0;MQRankSum=0.837;QD=13.64;ReadPosRankSum=-1.080;VQSLOD=4.4627;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,109:215:99:2962,0,2701 3 42236415 42236415 A G exonic TRAK1 synonymous SNV TRAK1:NM_001265609:exon9:c.A873G:p.S291S,TRAK1:NM_001265610:exon9:c.A873G:p.S291S,TRAK1:NM_001349248:exon9:c.A873G:p.S291S,TRAK1:NM_001349249:exon9:c.A873G:p.S291S,TRAK1:NM_014965:exon9:c.A921G:p.S307S,TRAK1:NM_001042646:exon10:c.A1095G:p.S365S,TRAK1:NM_001265608:exon10:c.A1095G:p.S365S,TRAK1:NM_001349245:exon10:c.A783G:p.S261S,TRAK1:NM_001349246:exon10:c.A1095G:p.S365S,TRAK1:NM_001349247:exon10:c.A1095G:p.S365S 0.79 0.69 0.86 0.98 0.77 0.7 0.7825 0.6860 0.8978 0.9863 0.8398 0.7626 0.8018 0.7111 0.73 0.69 0.75 0.79 0.81 rs9851455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7872 0.6884 0.8830 0.7403 0.9855 0.8299 0.7576 0.7811 0.7120 0.7754 0.6966 0.8675 0.7483 0.9834 0.8436 0.7761 0.8065 hom 2082.88 70 3 42236415 . A G 2082.88 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6040;MQ=59.07;MQ0=0;QD=29.76;VQSLOD=9.1535;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2116,168,0 3 42251263 42251263 C T exonic TRAK1 synonymous SNV TRAK1:NM_001265609:exon13:c.C1527T:p.S509S,TRAK1:NM_001349248:exon13:c.C1527T:p.S509S,TRAK1:NM_001349249:exon13:c.C1527T:p.S509S,TRAK1:NM_014965:exon13:c.C1575T:p.S525S,TRAK1:NM_001042646:exon14:c.C1749T:p.S583S,TRAK1:NM_001265608:exon14:c.C1749T:p.S583S,TRAK1:NM_001349245:exon14:c.C1437T:p.S479S,TRAK1:NM_001349246:exon14:c.C1749T:p.S583S,TRAK1:NM_001349247:exon14:c.C1749T:p.S583S 0.52 0.43 0.65 0.5 0.5 0.56 0.5288 0.4583 0.6620 0.5238 0.4959 0.5138 0.5288 0.5564 0.49 0.45 0.51 0.48 0.53 rs2290134 COSM4158032;COSM4158034;COSM4158033 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5306 0.4593 0.6501 0.5068 0.5299 0.4825 0.5093 0.5322 0.5548 0.4985 0.4542 0.6471 0.5132 0.5377 0.4903 0.5115 0.5286 het 1121.31 89 3 42251263 . C T 1121.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.727;DP=89;Dels=0.00;FS=4.307;HRun=0;HaplotypeScore=3.9801;MQ=59.32;MQ0=0;MQRankSum=0.260;QD=12.60;ReadPosRankSum=-0.252;VQSLOD=5.6581;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,39:89:99:1151,0,1378 3 42251329 42251329 C T exonic TRAK1 synonymous SNV TRAK1:NM_001265609:exon13:c.C1593T:p.P531P,TRAK1:NM_001349248:exon13:c.C1593T:p.P531P,TRAK1:NM_001349249:exon13:c.C1593T:p.P531P,TRAK1:NM_014965:exon13:c.C1641T:p.P547P,TRAK1:NM_001042646:exon14:c.C1815T:p.P605P,TRAK1:NM_001265608:exon14:c.C1815T:p.P605P,TRAK1:NM_001349245:exon14:c.C1503T:p.P501P,TRAK1:NM_001349246:exon14:c.C1815T:p.P605P,TRAK1:NM_001349247:exon14:c.C1815T:p.P605P 0.36 0.24 0.53 0.47 0.28 0.38 0.3394 0.2618 0.5720 0.4824 0.2828 0.2899 0.3466 0.3723 0.29 0.26 0.3 0.25 0.3 rs2290133 COSM4002693;COSM4002692;COSM4002694 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3502 0.2631 0.5578 0.3325 0.4871 0.2811 0.2888 0.3423 0.3705 0.2991 0.2636 0.5478 0.3675 0.4894 0.2829 0.2875 0.3031 het 2479.47 164 3 42251329 . C T 2479.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.694;DP=164;Dels=0.00;FS=5.030;HRun=0;HaplotypeScore=7.1848;MQ=59.07;MQ0=0;MQRankSum=1.922;QD=15.12;ReadPosRankSum=1.400;VQSLOD=4.0967;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,91:164:99:2509,0,1979 3 42251577 42251577 - GGA exonic TRAK1 nonframeshift insertion TRAK1:NM_001265609:exon13:c.1841_1842insGGA:p.E624_G625insE,TRAK1:NM_014965:exon13:c.1889_1890insGGA:p.E640_G641insE,TRAK1:NM_001265608:exon14:c.2063_2064insGGA:p.E698_G699insE . . . . . . . . . . . . . . . . . . . rs778048843 COSM4603519 11(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2738 0.3127 0.3175 0.2221 0.4498 0.3176 0.2466 0.2652 0.1762 0.2983 0.3266 0.2363 0.2461 0.4341 0.3377 0.2628 0.2726 het 2675.53 113 3 42251577 . C CGGA 2675.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.465;DP=113;FS=0.000;HRun=0;HaplotypeScore=619.4563;MQ=57.25;MQ0=0;MQRankSum=0.374;QD=23.68;ReadPosRankSum=-0.805;set=variant2 GT:AD:DP:GQ:PL 0/1:72,32:113:45.03:2715,0,45 3 42599091 42599091 G A exonic SEC22C synonymous SNV SEC22C:NM_001201572:exon5:c.C624T:p.H208H,SEC22C:NM_001201584:exon5:c.C624T:p.H208H,SEC22C:NM_004206:exon5:c.C624T:p.H208H,SEC22C:NM_032970:exon5:c.C624T:p.H208H 0.34 0.45 0.22 0.47 0.2 0.26 0.2346 0.3982 0.1564 0.4806 0.2254 0.1940 0.2676 0.2235 0.27 0.39 0.2 0.34 0.21 rs2271184 COSM3760087;COSM3760086 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2290 0.3980 0.1600 0.2160 0.4781 0.2217 0.1947 0.2152 0.2166 0.2786 0.3936 0.1409 0.2318 0.5155 0.2096 0.2129 0.2363 het 1242.69 126 3 42599091 . G A 1242.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.891;DP=126;Dels=0.00;FS=1.486;HRun=0;HaplotypeScore=7.0371;MQ=59.34;MQ0=0;MQRankSum=-0.304;QD=9.86;ReadPosRankSum=0.656;VQSLOD=4.4916;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,48:126:99:1273,0,2107 3 42610374 42610374 A G exonic SEC22C synonymous SNV SEC22C:NM_001201572:exon2:c.T165C:p.G55G,SEC22C:NM_001201584:exon2:c.T165C:p.G55G,SEC22C:NM_004206:exon2:c.T165C:p.G55G,SEC22C:NM_032970:exon2:c.T165C:p.G55G 0.54 0.8 0.3 0.58 0.34 0.51 0.3926 0.7182 0.2276 0.6063 0.3344 0.3252 0.3998 0.4865 0.45 0.7 0.33 0.53 0.32 rs2271186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3784 0.7233 0.2362 0.3105 0.6058 0.3261 0.3281 0.3444 0.4830 0.4603 0.7137 0.2129 0.3079 0.6349 0.3176 0.3494 0.3857 het 1039.99 88 3 42610374 . A G 1039.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.493;DP=88;Dels=0.00;FS=0.830;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=-1.018;QD=11.82;ReadPosRankSum=1.940;VQSLOD=5.5074;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,40:88:99:1070,0,1184 3 42610515 42610515 G A exonic SEC22C synonymous SNV SEC22C:NM_001201572:exon2:c.C24T:p.C8C,SEC22C:NM_001201584:exon2:c.C24T:p.C8C,SEC22C:NM_004206:exon2:c.C24T:p.C8C,SEC22C:NM_032970:exon2:c.C24T:p.C8C 0.31 0.4 0.21 0.47 0.18 0.26 0.2224 0.3557 0.1530 0.4748 0.2129 0.1802 0.2619 0.2258 0.24 0.34 0.19 0.28 0.21 rs2271187 COSM5619347;COSM5619346 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2167 0.3501 0.1558 0.2076 0.4757 0.2045 0.1801 0.2061 0.2187 0.2558 0.3449 0.1283 0.2119 0.5074 0.2021 0.1996 0.2198 het 249.07 34 3 42610515 . G A 249.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.879;DP=34;Dels=0.00;FS=3.673;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-1.179;QD=7.33;ReadPosRankSum=1.740;VQSLOD=4.0118;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,12:34:99:279,0,592 3 42679486 42679486 A G exonic NKTR nonsynonymous SNV NKTR:NM_001349124:exon13:c.A2290G:p.K764E,NKTR:NM_005385:exon13:c.A2290G:p.K764E,NKTR:NM_001349125:exon15:c.A1531G:p.K511E,NKTR:NM_001349126:exon15:c.A1186G:p.K396E 0.0028 . 0.01 . 0.007 . 0.0077 0.0022 0.0049 0.0001 0.0026 0.0114 0.0122 0.0041 0.0093 0.003 0.013 . 0.0082 rs150528581 COSM4442960 1(large_intestine) . . . . . . . . . . . 0.102 0.302 T 0.019 0.167 B 0.011 0.145 B 0.181 0.171 N 1 0.090 N 1.245 0.315 L 2.73 0.119 T -0.93 0.249 N 0.062 0.047 -1.030 0.204 T 0.023 0.099 T . . . 1.001 0.190 10.67 0.815 0.132 0.738 0.358 D c -0.631 -0.659 1.000 0.411 0.707 0.730 0 0.224 0.145 1.764 0.379 1.139 0.885 0.929 0.320 0.362 0.248 6.719 0.224 . . . 0.0078 0.0021 0.0062 0.0030 0.0001 0.0027 0.0127 0.0074 0.0040 0.0073 0.0028 0.0060 0.0033 0 0.0035 0.0115 0.0112 het 814.64 88 3 42679486 . A G 814.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.947;DP=88;Dels=0.00;FS=7.186;HRun=3;HaplotypeScore=1.9973;MQ=59.74;MQ0=0;MQRankSum=0.152;QD=9.26;ReadPosRankSum=-0.958;VQSLOD=2.8338;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,32:88:99:845,0,1588 3 42728144 42728144 A G exonic KLHL40 nonsynonymous SNV KLHL40:NM_152393:exon1:c.A1034G:p.N345S 0.62 0.36 0.59 0.83 0.67 0.72 0.6489 0.4051 0.6036 0.8120 0.7156 0.6535 0.6836 0.7012 0.56 0.41 0.63 0.54 0.52 rs6805421 COSM149365 1(breast);1(stomach);1(pancreas);1(thyroid) Benign not_specified RCV000218146.2 MedGen CN169374 . . . . . . 0.535 0.069 T 0.002 0.090 B 0.001 0.040 B 0.000 0.523 D 0.999 0.216 P -0.345 0.033 N -0.19 0.659 T 0.42 0.034 N 0.004 0.000 -0.958 0.395 T 0.000 0.000 T . . . 0.567 0.148 7.924 0.711 0.092 0.799 0.394 D c -0.790 -0.550 1.000 0.747 0.447 0.083 0 3.24 0.361 1.534 0.354 -0.330 0.074 0.776 0.292 0.980 0.490 11.030 0.468 Kelch-type beta propeller . . 0.6518 0.3963 0.6057 0.6198 0.8234 0.7196 0.6507 0.6532 0.6980 0.5969 0.4014 0.5839 0.6324 0.8149 0.7188 0.6533 0.6813 het 1918.14 192 3 42728144 . A G 1918.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.599;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.88;MQ0=0;MQRankSum=-1.163;QD=9.99;ReadPosRankSum=-1.741;VQSLOD=5.8505;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,72:192:99:1948,0,3284 3 42733468 42733468 T C exonic KLHL40 nonsynonymous SNV KLHL40:NM_152393:exon6:c.T1849C:p.C617R 0.9 0.94 0.87 1. 0.77 0.89 0.8168 0.9158 0.9191 0.9993 0.7177 0.7585 0.8139 0.8621 0.81 0.9 0.75 0.88 0.67 rs123509 . . Uncertain significance|Benign not_specified|not_specified RCV000213109.1|RCV000220535.3 MedGen|MedGen CN169374|CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.009 0.412 P -2.05 0.002 N -0.36 0.688 T 3.88 0.001 N 0.11 0.118 -0.961 0.391 T 0.000 0.000 T . . . -0.806 0.040 0.041 0.437 0.033 0.038 0.091 N c -1.306 -1.077 0.993 0.331 0.497 0.185 0 3.29 0.366 1.261 0.324 0.029 0.149 1.000 0.715 0.976 0.476 7.379 0.259 . ENSG00000244607.1|ENSG00000010282.10|ENSG00000181061.9 Artery_Aorta|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8140 0.9189 0.9056 0.7382 0.9991 0.7164 0.7580 0.8036 0.8584 0.8038 0.9076 0.8897 0.7550 0.9981 0.7221 0.7394 0.7745 hom 2377.42 82 3 42733468 . T C 2377.42 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=28.99;VQSLOD=8.7203;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2410,208,0 3 42735150 42735150 T C exonic HHATL nonsynonymous SNV HHATL:NM_020707:exon10:c.A1207G:p.M403V 0.65 0.68 0.68 0.71 0.59 0.58 0.6080 0.6564 0.6444 0.7217 0.5938 0.5917 0.6289 0.5629 0.61 0.65 0.59 0.63 0.53 rs11079 COSM4158036 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.975 0.255 P -2.05 0.002 N -0.65 0.722 T 1.88 0.005 N 0.014 0.002 -0.928 0.444 T 0.000 0.000 T . . . -0.302 0.068 0.659 0.859 0.157 0.404 0.262 N c -0.998 -0.696 0.999 0.390 0.581 0.326 0 4.35 0.513 3.169 0.503 0.008 0.138 1.000 0.715 0.998 0.697 12.485 0.550 . ENSG00000244607.1|ENSG00000244607.1|ENSG00000244607.1|ENSG00000010282.10|ENSG00000010282.10|ENSG00000244607.1 Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6084 0.6549 0.6461 0.5815 0.7288 0.5929 0.5893 0.6265 0.5631 0.6099 0.6461 0.6420 0.6 0.7283 0.5999 0.5768 0.6092 hom 1825.79 62 3 42735150 . T C 1825.79 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.45;VQSLOD=13.2906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1859,141,0 3 42735274 42735274 A G exonic HHATL synonymous SNV HHATL:NM_020707:exon10:c.T1083C:p.A361A 0.7 0.85 0.69 0.71 0.6 0.6 0.6251 0.8150 0.6534 0.7246 0.5914 0.5938 0.6476 0.5721 0.66 0.8 0.59 0.7 0.54 rs339697 COSM4158037 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6225 0.8172 0.6547 0.5843 0.7305 0.5929 0.5915 0.6412 0.5726 0.6546 0.7994 0.6539 0.5993 0.7333 0.6008 0.5778 0.6183 hom 2200.73 72 3 42735274 . A G 2200.73 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=59.39;MQ0=0;QD=30.57;VQSLOD=8.7464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2234,184,0 3 42772038 42772038 A T exonic CCDC13 nonsynonymous SNV CCDC13:NM_144719:exon13:c.T1639A:p.S547T 0.2 0.25 0.18 0.11 0.18 0.28 0.1968 0.2444 0.2089 0.1132 0.1401 0.1823 0.1811 0.2835 0.2 0.24 0.18 0.22 0.17 rs12495805 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.039 0.242 N 1 0.090 P -1.995 0.002 N 2.86 0.105 T 0.32 0.040 N 0.017 0.003 -0.946 0.417 T 0.000 0.000 T . . . -1.534 0.016 0.002 0.752 0.106 0.010 0.038 N c -1.745 -1.633 0.624 0.219 0.487 0.133 0 -3.26 0.047 -0.471 0.067 -0.701 0.038 0.001 0.137 0.004 0.083 10.147 0.418 . ENSG00000173811.6|ENSG00000244607.1|ENSG00000173811.6|ENSG00000244607.1|ENSG00000173811.6|ENSG00000173811.6|ENSG00000244607.1|ENSG00000173811.6|ENSG00000173811.6|ENSG00000244607.1|ENSG00000173811.6|ENSG00000244607.1|ENSG00000244607.1|ENSG00000173811.6|ENSG00000173811.6|ENSG00000244607.1|ENSG00000225611.1|ENSG00000173811.6|ENSG00000244607.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Prostate|Prostate|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1918 0.2460 0.2056 0.1757 0.1107 0.1350 0.1823 0.1718 0.2792 0.1852 0.2433 0.1862 0.1767 0.0965 0.1364 0.1736 0.1677 het 398.41 41 3 42772038 . A T 398.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.612;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6647;MQ=59.44;MQ0=0;MQRankSum=-0.476;QD=9.72;ReadPosRankSum=0.313;VQSLOD=6.5154;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,18:41:99:428,0,578 3 42787469 42787469 A G exonic CCDC13 synonymous SNV CCDC13:NM_144719:exon7:c.T771C:p.S257S 0.5 0.54 0.4 0.45 0.46 0.61 0.4876 0.5501 0.4208 0.4449 0.4666 0.4705 0.4449 0.5974 0.49 0.54 0.46 0.5 0.48 rs2240859 COSM3760091 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4777 0.5528 0.4149 0.4573 0.4349 0.4646 0.4680 0.4499 0.5887 0.4808 0.5421 0.3950 0.4205 0.4224 0.4662 0.4614 0.4724 het 2077.52 179 3 42787469 . A G 2077.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.327;DP=179;Dels=0.00;FS=0.557;HRun=1;HaplotypeScore=7.5061;MQ=58.51;MQ0=0;MQRankSum=-0.865;QD=11.61;ReadPosRankSum=0.099;VQSLOD=4.5548;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,81:179:99:2108,0,2383 3 42907112 42907112 A C exonic ACKR2 nonsynonymous SNV ACKR2:NM_001296:exon3:c.A1118C:p.Y373S 0.44 0.23 0.58 0.68 0.4 0.43 0.4218 0.2552 0.6998 0.6769 0.3406 0.3770 0.4547 0.4084 0.35 0.25 0.4 0.42 0.31 rs2228468 COSM1423149 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . Monocyte count . .14 23314186 rs2228468 5E-7 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.35 0.001 N -0.52 0.707 T 0.57 0.026 N 0.009 0.001 -0.940 0.426 T 0.000 0.000 T . . . -1.658 0.013 0.002 0.602 0.063 0.004 0.020 N c -1.585 -1.570 0.001 0.074 0.497 0.185 0 0.689 0.171 -0.501 0.064 -1.096 0.019 0.000 0.063 0.001 0.043 3.105 0.059 . ENSG00000273328.1 Testis 0.4327 0.2478 0.6827 0.3588 0.6834 0.3470 0.3776 0.4273 0.3967 0.3531 0.2509 0.6695 0.3477 0.6781 0.3502 0.3591 0.3747 hom 4220.63 140 3 42907112 . A C 4220.63 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.7280;MQ=59.40;MQ0=0;QD=30.15;VQSLOD=7.7867;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4220,322,0 3 42917047 42917047 A G exonic CYP8B1 nonsynonymous SNV CYP8B1:NM_004391:exon1:c.T262C:p.S88P 0.98 0.94 1. 1. 1. 1. 0.9952 0.9497 0.9992 1 1 0.9999 0.9924 0.9999 0.98 0.95 1. 0.99 1. rs9865715 . . . . . . . . . . . . . 0.731 0.051 T 0.0 0.026 B 0.004 0.093 B 0.000 0.439 N 1.000 0.588 P -0.885 0.014 N -0.38 0.690 T 0.56 0.028 N 0.044 0.091 -0.979 0.353 T 0.000 0.000 T . . . 1.185 0.209 11.67 0.724 0.096 0.232 0.218 N c -0.865 -0.678 0.999 0.383 0.497 0.185 0 3.17 0.354 0.844 0.271 0.138 0.222 0.335 0.254 0.998 0.697 8.957 0.348 . . . 0.9957 0.9499 0.9988 1 1 1 0.9999 0.9971 0.9999 0.9863 0.9523 0.9976 1 1 1 0.9999 0.9959 hom 4003.22 121 3 42917047 . A G 4003.22 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8801;MQ=59.62;MQ0=0;QD=33.08;VQSLOD=9.2841;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:4003,316,0 3 42956273 42956273 T C exonic ZNF662 synonymous SNV ZNF662:NM_001134656:exon4:c.T786C:p.I262I,ZNF662:NM_207404:exon5:c.T708C:p.I236I 0.94 0.82 0.97 1. 0.98 0.98 0.9704 0.8405 0.9857 0.9987 0.9816 0.9805 0.9769 0.9806 0.93 0.84 0.98 0.95 0.98 rs1427801 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9734 0.8377 0.9827 0.9872 0.9989 0.9814 0.9802 0.9781 0.9807 0.9420 0.8387 0.9749 0.9901 0.9994 0.9848 0.9806 0.9796 hom 2282.79 78 3 42956273 . T C 2282.79 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4942;MQ=60.00;MQ0=0;QD=29.27;VQSLOD=7.9374;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2316,196,0 3 43121559 43121559 C T exonic POMGNT2 synonymous SNV POMGNT2:NM_032806:exon2:c.G1365A:p.P455P 0.78 0.83 0.81 0.74 0.79 0.74 0.7860 0.8173 0.8353 0.7126 0.8091 0.7963 0.7622 0.7208 0.8 0.81 0.8 0.84 0.8 rs604033 . . Benign not_specified RCV000242426.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7886 0.8182 0.8306 0.7714 0.7155 0.8098 0.7989 0.7973 0.7203 0.7996 0.8162 0.8246 0.7815 0.7123 0.8065 0.7971 0.7935 hom 2848.06 88 3 43121559 . C T 2848.06 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4297;MQ=58.88;MQ0=0;QD=32.36;VQSLOD=8.2067;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2881,238,0 3 44489880 44489880 T C exonic ZNF445 nonsynonymous SNV ZNF445:NM_181489:exon8:c.A1283G:p.Y428C 0.049 0.012 0.065 . 0.17 0.01 0.1134 0.0310 0.0516 0 0.1877 0.1663 0.1355 0.0235 0.11 0.037 0.15 0.065 0.17 rs11710965 COSM5652957 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.113 0.287 T 0.001 0.090 B 0.002 0.063 B 0.746 0.097 N 1 0.090 P 2.09 0.581 M 3.4 0.057 T -1.76 0.416 N 0.04 0.020 -0.989 0.328 T 0.000 0.000 T . . . 1.778 0.275 14.86 0.936 0.228 0.025 0.069 N c -1.100 -1.226 0.171 0.177 0.563 0.310 0 -3.72 0.041 -2.025 0.015 0.020 0.144 0.000 0.063 0.595 0.288 5.022 0.136 . ENSG00000186448.10 Thyroid 0.1128 0.0291 0.0588 0.1493 5.798e-05 0.1944 0.1624 0.1249 0.0239 0.1120 0.0319 0.0695 0.1225 0 0.1972 0.1524 0.1222 het 1607.24 119 3 44489880 . T C 1607.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.425;DP=119;Dels=0.00;FS=2.379;HRun=0;HaplotypeScore=3.2400;MQ=59.06;MQ0=0;MQRankSum=1.374;QD=13.51;ReadPosRankSum=-0.508;VQSLOD=6.2154;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1637,0,1681 3 44607013 44607013 T C exonic ZKSCAN7 nonsynonymous SNV ZKSCAN7:NM_001288592:exon2:c.T8C:p.F3S,ZKSCAN7:NM_001288590:exon3:c.T458C:p.F153S,ZKSCAN7:NM_001288591:exon3:c.T458C:p.F153S,ZKSCAN7:NM_018651:exon3:c.T458C:p.F153S,ZKSCAN7:NM_025169:exon3:c.T458C:p.F153S 0.18 0.3 0.16 0.001 0.32 0.06 0.2464 0.3127 0.1233 0.0002 0.3582 0.3162 0.2577 0.0895 0.31 0.32 0.31 0.3 0.3 rs13081859 COSM3760101 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.404 0.235 T 0.0 0.026 B 0.0 0.013 B 0.677 0.103 N 1 0.090 P -1.245 0.008 N 3.57 0.053 T -0.36 0.360 N 0.012 0.017 -0.912 0.466 T 0.000 0.000 T . . . -0.278 0.070 0.745 0.761 0.110 0.063 0.122 N c -1.159 -1.138 0.003 0.097 0.707 0.730 0 0.533 0.162 0.336 0.194 1.061 0.807 0.462 0.264 0.934 0.407 3.380 0.068 SCAN domain ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000196345.8|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000163807.4|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Colon_Transverse|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.2424 0.3138 0.1335 0.2477 0.0006 0.3622 0.3173 0.2562 0.0879 0.3075 0.3155 0.1516 0.2252 0.0006 0.3614 0.3354 0.2848 het 2662.31 196 3 44607013 . T C 2662.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.999;DP=196;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4360;MQ=59.01;MQ0=0;MQRankSum=1.094;QD=13.58;ReadPosRankSum=-2.299;VQSLOD=4.5624;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,100:196:99:2692,0,2387 3 44611896 44611896 A G exonic ZKSCAN7 nonsynonymous SNV ZKSCAN7:NM_001288592:exon5:c.A841G:p.T281A,ZKSCAN7:NM_001288590:exon6:c.A1294G:p.T432A,ZKSCAN7:NM_018651:exon6:c.A1294G:p.T432A 0.22 0.44 0.18 0.001 0.34 0.06 0.2616 0.4132 0.1347 0.0002 0.3608 0.3265 0.2759 0.0908 0.35 0.41 0.32 0.35 0.28 rs9835485 COSM1423245 1(bone);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.39 0.129 T 0.074 0.226 B 0.043 0.229 B 0.075 0.213 N 0.995 0.588 P 1.495 0.376 L 2.73 0.119 T -1.4 0.346 N 0.046 0.068 -0.922 0.453 T 0.000 0.000 T . . . 1.128 0.203 11.36 0.971 0.319 0.539 0.292 D c -0.379 -0.310 0.049 0.148 0.707 0.730 0 3.04 0.340 2.837 0.476 1.199 0.960 0.014 0.188 0.972 0.466 7.228 0.250 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000186448.10|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000144792.5|ENSG00000163807.4|ENSG00000196653.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2558 0.4150 0.1481 0.2778 0.0006 0.3654 0.3264 0.2719 0.0921 0.3387 0.4089 0.1695 0.2483 0.0006 0.3632 0.3424 0.3010 het 466.27 43 3 44611896 . A G 466.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.942;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.17;MQ0=1;MQRankSum=-1.188;QD=10.84;ReadPosRankSum=-0.682;VQSLOD=3.5166;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:24,19:43:99:496,0,623 3 44612050 44612050 C T exonic ZKSCAN7 nonsynonymous SNV ZKSCAN7:NM_001288592:exon5:c.C995T:p.T332I,ZKSCAN7:NM_001288590:exon6:c.C1448T:p.T483I,ZKSCAN7:NM_018651:exon6:c.C1448T:p.T483I 0.75 0.67 0.73 0.83 0.75 0.79 0.7433 0.6805 0.7523 0.8421 0.8007 0.7262 0.7555 0.7700 0.7 0.67 0.72 0.67 0.71 rs9873604 COSM5420056 1(pancreas) . . . . . . . . . . . 1.0 0.059 T 0.0 0.026 B 0.001 0.040 B 0.113 0.027 N 1 0.090 P 0.055 0.082 N 3.17 0.076 T 1.14 0.022 N 0.015 0.003 -0.976 0.360 T 0.000 0.000 T . . . -1.225 0.024 0.006 0.744 0.103 0.031 0.080 N c -1.421 -1.420 0.005 0.109 0.563 0.310 0 -1.03 0.095 -1.890 0.017 -0.208 0.100 0.000 0.063 0.032 0.149 5.453 0.158 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000144792.5|ENSG00000179152.14|ENSG00000144792.5|ENSG00000144792.5|ENSG00000144792.5|ENSG00000144792.5|ENSG00000179152.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Nerve_Tibial|Thyroid|Whole_Blood 0.7427 0.6784 0.7393 0.7454 0.8328 0.8019 0.7193 0.7404 0.7692 0.7272 0.6769 0.7351 0.7384 0.8409 0.7988 0.7264 0.7327 hom 5423.79 172 3 44612050 . C T 5423.79 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7769;MQ=58.58;MQ0=0;QD=31.53;VQSLOD=8.5034;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5423,433,0 3 44692564 44692564 C G exonic ZNF35 nonsynonymous SNV ZNF35:NM_003420:exon2:c.C5G:p.T2S 0.32 0.0076 0.3 0.79 0.14 0.43 0.2404 0.0390 0.3958 0.7981 0.2124 0.1394 0.2027 0.3813 0.11 0.039 0.14 0.18 0.17 rs2272044 COSM3760102 3(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.779 0.423 P 0.191 0.347 B . . . 0.799 0.810 P 0.895 0.225 L 2.78 0.113 T -0.47 0.678 N 0.133 0.153 -1.167 0.006 T 0.000 0.000 T . . . 5.300 0.717 25.8 0.995 0.698 0.860 0.449 D c 0.077 0.148 0.995 0.339 0.732 0.924 0 4.08 0.467 1.384 0.338 0.935 0.490 1.000 0.715 0.999 0.750 12.070 0.527 . ENSG00000186446.7|ENSG00000163815.5 Artery_Aorta|Nerve_Tibial 0.2447 0.0348 0.3728 0.1101 0.7872 0.2103 0.1372 0.1832 0.3740 0.1625 0.0341 0.3397 0.1233 0.8019 0.2010 0.1474 0.2031 het 1061.23 66 3 44692564 . C G 1061.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.533;DP=66;Dels=0.00;FS=2.161;HRun=0;HaplotypeScore=1.9940;MQ=58.08;MQ0=0;MQRankSum=-0.489;QD=16.08;ReadPosRankSum=-0.185;VQSLOD=4.1844;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,41:66:99:1091,0,632 3 44775962 44775962 A G exonic ZNF501 nonsynonymous SNV ZNF501:NM_001258280:exon3:c.A49G:p.M17V,ZNF501:NM_145044:exon3:c.A49G:p.M17V 0.7 0.61 0.66 0.88 0.6 0.74 0.6203 0.6114 0.6825 0.8908 0.5667 0.5562 0.6184 0.7209 0.58 0.63 0.56 0.59 0.54 rs4682752 COSM4999207 1(pancreas) . . . . . . . . . . . 0.032 0.446 D 0.0 0.026 B 0.0 0.013 B . . . 0.917 0.274 P 0.88 0.216 L 1.14 0.384 T 0.53 0.028 N 0.086 0.098 -1.003 0.291 T 0.000 0.000 T . . . 1.429 0.235 12.94 0.838 0.144 0.046 0.101 N c -0.793 -0.846 0.876 0.255 0.651 0.465 0 2.39 0.284 1.738 0.376 0.883 0.387 0.002 0.151 0.267 0.231 9.991 0.409 . ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000163807.4|ENSG00000163807.4|ENSG00000163807.4|ENSG00000163807.4|ENSG00000196653.7|ENSG00000163807.4|ENSG00000196653.7|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000163807.4|ENSG00000163807.4|ENSG00000163807.4|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000196653.7|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6206 0.6107 0.6671 0.6627 0.8860 0.5597 0.5478 0.6192 0.7207 0.5860 0.6068 0.6483 0.7020 0.9031 0.5625 0.5395 0.5832 het 1281.17 110 3 44775962 . A G 1281.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.544;DP=110;Dels=0.00;FS=6.170;HRun=0;HaplotypeScore=1.9150;MQ=59.45;MQ0=0;MQRankSum=1.181;QD=11.65;ReadPosRankSum=-0.786;VQSLOD=5.3341;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,56:110:99:1311,0,1343 3 44871505 44871505 A T exonic KIF15 nonsynonymous SNV KIF15:NM_020242:exon25:c.A2986T:p.T996S 0.063 0.016 0.084 . 0.22 0.016 0.1497 0.0381 0.0697 0 0.2843 0.2162 0.1752 0.0291 0.15 0.045 0.21 0.054 0.17 rs11710339 COSM3760103 1(large_intestine) . . . . . . . . . . . 0.424 0.097 T 0.0 0.026 B 0.009 0.133 B 0.500 0.119 N 1.000 0.090 P 1.615 0.415 L 1.02 0.407 T 0.34 0.038 N 0.014 0.002 -0.994 0.317 T 0.000 0.000 T . . . -0.056 0.088 2.081 0.821 0.136 0.153 0.187 N c -1.016 -0.977 0.782 0.238 0.732 0.924 0 -4.04 0.037 0.114 0.152 1.121 0.882 0.866 0.305 0.923 0.397 6.545 0.215 . ENSG00000163807.4|ENSG00000186448.10|ENSG00000196653.7|ENSG00000163807.4|ENSG00000186448.10|ENSG00000144792.5 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Lung|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.1486 0.0336 0.0701 0.1572 6.224e-05 0.2840 0.2107 0.1614 0.0284 0.1612 0.0390 0.1005 0.1333 0 0.2782 0.2242 0.2045 het 1417.65 199 3 44871505 . A T 1417.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.557;DP=199;Dels=0.00;FS=2.650;HRun=0;HaplotypeScore=5.5220;MQ=58.47;MQ0=0;MQRankSum=0.006;QD=7.12;ReadPosRankSum=-1.000;VQSLOD=3.6867;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,68:199:99:1448,0,3154 3 44884647 44884647 C A exonic KIF15 nonsynonymous SNV KIF15:NM_020242:exon30:c.C3616A:p.L1206M 0.53 0.16 0.53 0.85 0.52 0.71 0.5201 0.2198 0.5696 0.8398 0.5003 0.4809 0.5220 0.6731 0.39 0.21 0.48 0.33 0.49 rs3804583 COSM3760104 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.307 0.141 T 0.053 0.211 B 0.021 0.181 B 0.421 0.129 N 0.494 0.318 P 1.455 0.369 L -0.46 0.700 T -0.47 0.152 N 0.355 0.416 -0.985 0.339 T 0.000 0.000 T . . . 2.759 0.393 21.1 0.995 0.684 0.713 0.347 D c -0.239 -0.115 0.434 0.204 0.707 0.730 0 3.52 0.393 0.620 0.239 -0.055 0.122 0.881 0.308 0.901 0.381 9.700 0.392 . ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186446.7|ENSG00000163807.4|ENSG00000196653.7|ENSG00000163807.4|ENSG00000196653.7|ENSG00000163807.4|ENSG00000196653.7|ENSG00000196653.7|ENSG00000196653.7|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000196653.7|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7|ENSG00000186448.10|ENSG00000163807.4|ENSG00000196653.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5260 0.2115 0.5537 0.5669 0.8327 0.4979 0.4760 0.5137 0.6717 0.4229 0.2159 0.5478 0.5927 0.8496 0.5052 0.4642 0.4786 het 728.85 62 3 44884647 . C A 728.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.444;DP=62;Dels=0.00;FS=3.461;HRun=0;HaplotypeScore=0.8321;MQ=59.40;MQ0=0;MQRankSum=-0.218;QD=11.76;ReadPosRankSum=-1.514;VQSLOD=6.2403;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,30:62:99:759,0,858 3 44929287 44929287 G C exonic TGM4 nonsynonymous SNV TGM4:NM_003241:exon3:c.G300C:p.E100D 0.43 0.16 0.43 0.82 0.29 0.54 0.3792 0.1778 0.4781 0.8312 0.3745 0.3035 0.3576 0.5061 0.25 0.18 0.29 0.4 0.35 rs2271087 COSM3760106 1(bone);1(large_intestine) . . . . . . . . . . . 0.04 0.421 D 0.339 0.484 B 0.179 0.489 B 0.169 0.174 U 1.000 0.090 P 0.9 0.233 L -1.6 0.822 D -1.5 0.366 N 0.068 0.055 -0.957 0.398 T 0.000 0.000 T . . . 1.869 0.285 15.40 0.985 0.421 0.237 0.219 N c -0.422 -0.550 1.000 0.500 0.554 0.283 0 1.43 0.215 2.533 0.451 0.712 0.302 0.992 0.373 0.228 0.223 6.276 0.201 Immunoglobulin E-set|Immunoglobulin-like fold|Transglutaminase\x2c N-terminal ENSG00000163807.4|ENSG00000163810.7|ENSG00000163807.4|ENSG00000163815.5|ENSG00000075914.8 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Nerve_Tibial|Testis 0.3804 0.1726 0.4571 0.2980 0.8269 0.3684 0.2958 0.3369 0.4994 0.3076 0.1740 0.4403 0.3467 0.8459 0.3524 0.3049 0.3635 hom 2305.13 82 3 44929287 . G C 2305.13 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.54;MQ0=0;QD=28.11;VQSLOD=7.9507;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2338,196,0 3 44943069 44943069 C T exonic TGM4 synonymous SNV TGM4:NM_003241:exon7:c.C711T:p.Y237Y 0.57 0.52 0.51 0.8 0.4 0.61 0.4992 0.5010 0.5463 0.8287 0.4747 0.4278 0.4673 0.5900 0.45 0.5 0.42 0.64 0.43 rs1995640 COSM3760107 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4912 0.4937 0.5239 0.4080 0.8267 0.4636 0.4200 0.4496 0.5780 0.4757 0.4890 0.5060 0.4371 0.8432 0.4590 0.4319 0.4633 hom 1599.21 50 3 44943069 . C T 1599.21 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9662;MQ=59.00;MQ0=0;QD=31.98;VQSLOD=8.3710;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1632,132,0 3 44943389 44943389 G A exonic TGM4 nonsynonymous SNV TGM4:NM_003241:exon8:c.G937A:p.E313K 0.56 0.47 0.51 0.8 0.4 0.6 0.4899 0.4616 0.5416 0.8266 0.4616 0.4223 0.4604 0.5815 0.43 0.46 0.42 0.62 0.46 rs1995641 COSM3760108 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.466 0.086 T 0.582 0.370 P 0.13 0.313 B 0.102 0.198 N 1 0.090 P -0.63 0.021 N 0.73 0.507 T -1.86 0.435 N 0.033 0.013 -1.000 0.299 T 0.000 0.000 T . . . 0.241 0.117 5.105 0.687 0.085 0.040 0.093 N c -1.113 -1.222 0.943 0.275 0.516 0.203 0 -3.6 0.043 0.414 0.207 -0.492 0.052 0.152 0.235 0.003 0.074 8.341 0.312 Transglutaminase-like ENSG00000186446.7|ENSG00000163815.5|ENSG00000163810.7 Artery_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.4880 0.4626 0.5233 0.4055 0.8240 0.4609 0.4195 0.4478 0.5753 0.4657 0.4577 0.5072 0.4338 0.8379 0.4559 0.4313 0.4582 hom 4374.88 139 3 44943389 . G A 4374.88 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=59.60;MQ0=0;QD=31.47;VQSLOD=9.3745;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4374,337,0 3 44948479 44948479 C T exonic TGM4 nonsynonymous SNV TGM4:NM_003241:exon10:c.C1114T:p.R372C 0.67 0.67 0.58 0.89 0.45 0.76 0.5714 0.6515 0.6183 0.9026 0.4793 0.4779 0.5385 0.7309 0.53 0.65 0.47 0.7 0.51 rs3749195 COSM3760109 1(skin);2(large_intestine) . . . . . . . . . . . 0.001 0.784 D 0.98 0.574 D 0.427 0.435 B 0.295 0.147 U 0.596 0.310 P 2.885 0.838 M 1.94 0.227 T -5.95 0.891 D 0.193 0.236 -1.079 0.074 T 0.000 0.000 T . . . 4.165 0.558 23.8 0.964 0.292 0.062 0.120 N c -0.260 -0.496 0.999 0.370 0.497 0.185 0 2.03 0.256 -0.754 0.049 -0.152 0.108 0.000 0.063 0.003 0.074 9.088 0.356 Transglutaminase-like ENSG00000163815.5|ENSG00000163810.7|ENSG00000075914.8 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.5674 0.6558 0.6019 0.4417 0.9024 0.4810 0.4796 0.5157 0.7288 0.5603 0.6509 0.5967 0.4868 0.9093 0.4831 0.4906 0.5092 hom 4000.28 117 3 44948479 . C T 4000.28 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3639;MQ=59.41;MQ0=0;QD=34.19;VQSLOD=8.9720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:117:99:3961,310,0 3 44948590 44948590 G A exonic TGM4 nonsynonymous SNV TGM4:NM_003241:exon10:c.G1225A:p.V409I 0.62 0.47 0.57 0.88 0.45 0.76 0.5521 0.4663 0.6085 0.8972 0.4791 0.4752 0.5242 0.7271 0.47 0.46 0.47 0.65 0.52 rs9876921 COSM3760110 1(large_intestine) . . . . . . . . . . . 0.26 0.165 T 0.002 0.090 B 0.002 0.063 B 0.145 0.029 N 1 0.090 P -0.235 0.039 N -1.26 0.792 T -0.32 0.123 N 0.027 0.009 -0.961 0.389 T 0.000 0.000 T . . . -1.795 0.011 0.002 0.669 0.079 0.003 0.014 N c -2.181 -2.244 1.000 0.747 0.516 0.203 0 -4.07 0.037 -0.564 0.060 -3.687 0.001 0.000 0.063 0.000 0.016 2.458 0.042 Transglutaminase-like ENSG00000163812.9|ENSG00000163815.5|ENSG00000075914.8 Esophagus_Mucosa|Nerve_Tibial|Testis 0.5517 0.4688 0.5915 0.4178 0.8973 0.4809 0.4781 0.5027 0.7256 0.5086 0.4720 0.5861 0.4768 0.9067 0.4828 0.4897 0.4980 hom 7939.64 250 3 44948590 . G A 7939.64 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9516;MQ=59.48;MQ0=0;QD=31.76;VQSLOD=7.6925;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7939,626,0 3 44974433 44974433 A C exonic ZDHHC3 nonsynonymous SNV ZDHHC3:NM_001349376:exon6:c.T660G:p.H220Q,ZDHHC3:NM_016598:exon6:c.T660G:p.H220Q,ZDHHC3:NM_001349378:exon7:c.T438G:p.H146Q 0.0082 . 0.016 . 0.027 0.0031 0.0179 0.0058 0.0072 0 0.0082 0.0273 0.0143 0.0087 0.022 0.0059 0.03 . 0.016 rs3087823 . . . . . . . . . . . . . 0.216 0.192 T 0.0 0.026 B 0.002 0.063 B 0.706 0.100 N 1 0.090 N . . . 1.22 0.370 T -0.46 0.150 N 0.031 0.012 -1.046 0.155 T 0.021 0.087 T . . . -0.921 0.035 0.023 0.676 0.082 0.039 0.092 N c -1.296 -1.452 1.000 0.747 0.707 0.730 0 -9.79 0.004 -0.264 0.086 0.191 0.249 0.000 0.063 0.401 0.254 11.527 0.497 Zinc finger\x2c DHHC-type\x2c palmitoyltransferase . . 0.0171 0.0050 0.0076 0.0226 0.0001 0.0083 0.0279 0.0130 0.0089 0.0166 0.0048 0.0072 0.0464 0 0.0069 0.0277 0.0132 het 1431.12 141 3 44974433 . A C 1431.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.423;DP=141;Dels=0.00;FS=3.204;HRun=1;HaplotypeScore=0.8941;MQ=58.64;MQ0=0;MQRankSum=0.433;QD=10.15;ReadPosRankSum=-0.357;VQSLOD=5.8019;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,59:141:99:1461,0,1979 3 45017782 45017782 A G exonic EXOSC7 nonsynonymous SNV EXOSC7:NM_015004:exon1:c.A13G:p.T5A 0.047 0.014 0.068 0.023 0.089 0.059 0.0915 0.0274 0.0702 0.0344 0.1107 0.1100 0.1221 0.0912 0.07 0.025 0.093 0.022 0.057 rs11547235 COSM4158048 2(thyroid) . . . . . . . . . . . 0.812 0.030 T 0.0 0.026 B 0.0 0.013 B 0.812 0.092 N 1 0.090 N -0.205 0.041 N 1.03 0.405 T 0.39 0.035 N 0.017 0.004 -1.045 0.158 T 0.002 0.005 T . . . -0.369 0.064 0.458 0.744 0.103 0.004 0.021 N c -1.359 -1.261 1.000 0.747 0.468 0.091 2 -1.32 0.087 -0.470 0.067 -0.370 0.067 0.846 0.301 0.611 0.291 1.303 0.019 Ribosomal protein S5 domain 2-type fold ENSG00000075914.8|ENSG00000075914.8 Cells_Transformed_fibroblasts|Thyroid 0.0775 0.0182 0.0578 0.1288 0.0264 0.0720 0.0918 0.0864 0.0747 0.0699 0.0243 0.0656 0.1258 0.0342 0.0766 0.0971 0.0786 het 422.05 27 3 45017782 . A G 422.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.803;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.39;MQ0=0;MQRankSum=-1.106;QD=15.63;ReadPosRankSum=0.283;VQSLOD=5.7598;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,18:27:99:452,0,179 3 45052775 45052775 G C exonic EXOSC7 nonsynonymous SNV EXOSC7:NM_015004:exon8:c.G820C:p.V274L 0.71 0.73 0.62 0.9 0.48 0.76 0.5940 0.6857 0.6312 0.8937 0.5023 0.5071 0.5744 0.7410 0.57 0.68 0.51 0.74 0.55 rs6794 COSM5021390 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1 0.090 P -3.09 0.000 N 1.32 0.352 T 2.48 0.002 N 0.092 0.146 -0.979 0.352 T 0.000 0.000 T . . . -1.532 0.016 0.002 0.554 0.052 0.065 0.124 N c -1.923 -1.675 1.000 0.747 0.731 0.878 0 2.93 0.329 0.995 0.291 -0.326 0.075 0.457 0.264 0.015 0.124 4.791 0.125 Exoribonuclease\x2c phosphorolytic domain 2 ENSG00000163812.9|ENSG00000163815.5|ENSG00000163810.7|ENSG00000075914.8 Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.5911 0.6880 0.6198 0.5166 0.8931 0.5052 0.5077 0.5515 0.7395 0.5873 0.6903 0.6256 0.5596 0.8974 0.4994 0.5168 0.5286 hom 2261.53 76 3 45052775 . G C 2261.53 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8824;MQ=60.00;MQ0=0;QD=29.76;VQSLOD=7.4340;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2295,172,0 3 45077123 45077123 G A exonic CLEC3B nonsynonymous SNV CLEC3B:NM_001308394:exon3:c.G190A:p.G64S,CLEC3B:NM_003278:exon3:c.G316A:p.G106S 0.56 0.4 0.51 0.86 0.38 0.7 0.4854 0.3998 0.5485 0.8627 0.4291 0.4013 0.4512 0.6599 0.4 0.39 0.41 0.56 0.41 rs13963 COSM3760111 1(liver);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.702 0.046 T 0.099 0.241 B 0.101 0.292 B 0.002 0.367 N 0.373 0.338 P -0.04 0.050 N 2.23 0.181 T 0.46 0.031 N 0.064 0.049 -1.081 0.072 T 0.000 0.000 T . . . 0.909 0.181 10.13 0.900 0.187 0.660 0.327 D c -0.807 -0.679 1.000 0.409 0.583 0.331 0 -0.054 0.131 1.513 0.352 0.135 0.219 1.000 0.715 0.640 0.296 8.708 0.333 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000163815.5|ENSG00000075914.8|ENSG00000075914.8 Esophagus_Mucosa|Testis|Thyroid 0.4863 0.4003 0.5351 0.3432 0.8618 0.4310 0.4039 0.4333 0.6589 0.4362 0.3989 0.5323 0.3974 0.8629 0.4204 0.4115 0.4281 het 1352.61 100 3 45077123 . G A 1352.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.218;DP=100;Dels=0.00;FS=4.983;HRun=0;HaplotypeScore=2.6432;MQ=58.41;MQ0=0;MQRankSum=1.395;QD=13.53;ReadPosRankSum=0.504;VQSLOD=5.2222;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,53:100:99:1383,0,1352 3 45127515 45127515 T C exonic CDCP1 nonsynonymous SNV CDCP1:NM_022842:exon9:c.A2126G:p.D709G 0.93 0.75 0.97 1. 1. 1. 0.9792 0.7842 0.9876 1 1 0.9981 0.9934 0.9998 0.93 0.79 1. 0.9 0.95 rs9874077 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.009 0.308 N 1 0.090 P -2.175 0.001 N 2.05 0.207 T 2.43 0.003 N 0.059 0.043 -0.955 0.401 T 0.000 0.000 T . . . -0.273 0.070 0.765 0.124 0.002 0.081 0.139 N c -1.211 -0.979 1.000 0.747 0.732 0.924 0 5.82 0.927 0.459 0.215 0.069 0.176 0.573 0.273 0.727 0.316 11.353 0.487 . . . 0.9828 0.7772 0.9864 0.9895 1 1 0.9985 0.9854 0.9998 0.9380 0.7851 0.9833 1 1 1 0.9989 0.9847 hom 5426.37 158 3 45127515 . T C 5426.37 Mask AC=2;AF=1.00;AN=2;DP=158;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=34.34;VQSLOD=9.6724;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5426,424,0 3 45134822 45134822 T C exonic CDCP1 nonsynonymous SNV CDCP1:NM_022842:exon6:c.A1574G:p.Q525R 0.73 0.55 0.76 0.96 0.63 0.83 0.7036 0.5654 0.8406 0.9779 0.6948 0.6430 0.7042 0.7990 0.62 0.57 0.64 0.75 0.65 rs3749191 . . . . . . . . . . . . . 0.518 0.073 T 0.0 0.026 B 0.001 0.040 B 0.323 0.041 N 1 0.090 P 1.7 0.440 L 1.94 0.227 T -0.13 0.090 N 0.016 0.003 -0.919 0.457 T 0.000 0.000 T . . . -1.128 0.027 0.009 0.798 0.125 0.069 0.128 N c -1.200 -1.233 1.000 0.416 0.732 0.924 0 -1.14 0.092 -0.263 0.086 -0.702 0.037 0.000 0.063 0.144 0.203 0.489 0.005 . . . 0.7091 0.5600 0.8262 0.6569 0.9790 0.6942 0.6367 0.6869 0.7979 0.6497 0.5630 0.7990 0.6424 0.9797 0.6907 0.6434 0.6996 het 1997.65 160 3 45134822 . T C 1997.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.465;DP=160;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=10.1267;MQ=58.99;MQ0=0;MQRankSum=-1.036;QD=12.49;ReadPosRankSum=-0.654;VQSLOD=3.9209;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,80:160:99:2028,0,2196 3 45153708 45153708 G A exonic CDCP1 synonymous SNV CDCP1:NM_022842:exon3:c.C522T:p.I174I,CDCP1:NM_178181:exon3:c.C522T:p.I174I 0.14 0.13 0.16 0.046 0.19 0.17 0.1616 0.1172 0.1607 0.0466 0.1506 0.1841 0.2037 0.1615 0.15 0.11 0.18 0.13 0.13 rs35501071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1620 0.1146 0.1674 0.1953 0.0475 0.1514 0.1827 0.1704 0.1643 0.1511 0.1124 0.1695 0.2 0.0389 0.1537 0.1827 0.1571 het 2653.65 209 3 45153708 . G A 2653.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.160;DP=209;Dels=0.00;FS=3.291;HRun=1;HaplotypeScore=3.0842;MQ=59.69;MQ0=0;MQRankSum=0.440;QD=12.70;ReadPosRankSum=0.575;VQSLOD=5.9404;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,93:209:99:2684,0,3062 3 45527218 45527218 T C exonic LARS2 synonymous SNV LARS2:NM_015340:exon11:c.T1053C:p.L351L 0.78 0.34 0.91 0.98 0.94 0.93 0.9026 0.4198 0.9478 0.9770 0.9702 0.9460 0.8998 0.9335 0.77 0.44 0.95 0.73 0.93 rs7610357 . . Benign not_specified RCV000217249.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9133 0.4102 0.9468 0.8857 0.9785 0.9724 0.9485 0.9134 0.9298 0.8035 0.4164 0.9390 0.8974 0.9790 0.9717 0.9521 0.9358 hom 7372.05 240 3 45527218 . T C 7372.05 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=240;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4791;MQ=59.01;MQ0=0;MQRankSum=0.202;QD=30.72;ReadPosRankSum=1.458;VQSLOD=8.9849;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,239:240:99:7371,563,0 3 45533224 45533224 G A exonic LARS2 synonymous SNV LARS2:NM_015340:exon13:c.G1455A:p.A485A 0.78 0.34 0.91 0.98 0.94 0.93 0.9025 0.4195 0.9478 0.9771 0.9702 0.9459 0.8998 0.9334 0.77 0.44 0.95 0.73 0.93 rs2128361 COSM4158050 1(thyroid) Benign not_specified RCV000215318.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9135 0.4105 0.9468 0.8853 0.9787 0.9724 0.9485 0.9132 0.9298 0.8035 0.4166 0.9391 0.8974 0.9784 0.9716 0.9521 0.9356 hom 3789.18 120 3 45533224 . G A 3789.18 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.67;MQ0=0;QD=31.58;VQSLOD=9.5260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3789,307,0 3 45559519 45559519 T C exonic LARS2 synonymous SNV LARS2:NM_015340:exon18:c.T2169C:p.A723A 0.85 0.49 0.95 1. 0.99 0.97 0.9515 0.5572 0.9736 0.9995 1 0.9938 0.9670 0.9676 0.85 0.58 0.99 0.77 0.95 rs2170549 COSM5619441 1(breast) Benign not_specified RCV000219077.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9597 0.5514 0.9729 0.9483 0.9996 1 0.9963 0.9673 0.9662 0.8707 0.5534 0.9737 0.9801 1 1 0.9964 0.9673 hom 3204.77 104 3 45559519 . T C 3204.77 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=59.00;MQ0=0;QD=30.82;VQSLOD=8.9304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3238,271,0 3 45565554 45565554 A G exonic LARS2 synonymous SNV LARS2:NM_015340:exon20:c.A2358G:p.V786V 0.86 0.53 0.95 1. 1. 0.97 0.9575 0.5934 0.9787 0.9995 1 0.9982 0.9780 0.9677 0.87 0.62 1. 0.78 0.98 rs267220 . . Benign not_specified RCV000223098.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9655 0.5897 0.9774 0.9957 0.9996 1 0.9979 0.9748 0.9663 0.8839 0.5962 0.9773 0.9967 1 1 0.9979 0.9735 hom 4799.32 157 3 45565554 . A G 4799.32 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.41;MQ0=0;QD=30.57;VQSLOD=9.4478;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4799,364,0 3 45637253 45637253 C T exonic LIMD1 synonymous SNV LIMD1:NM_014240:exon1:c.C882T:p.T294T 0.69 0.59 0.65 0.93 0.55 0.72 0.6245 0.5847 0.7219 0.9384 0.6054 0.5625 0.6126 0.6755 0.58 0.6 0.57 0.62 0.65 rs267237 COSM446566 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6294 0.5824 0.7089 0.5648 0.9396 0.6121 0.5635 0.5785 0.6730 0.6102 0.5790 0.6935 0.5828 0.9457 0.5928 0.5913 0.6173 het 1820.09 132 3 45637253 . C T 1820.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.146;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6574;MQ=59.22;MQ0=0;MQRankSum=1.262;QD=13.79;ReadPosRankSum=0.475;VQSLOD=5.8910;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,67:132:99:1850,0,1789 3 45637439 45637439 T C exonic LIMD1 synonymous SNV LIMD1:NM_014240:exon1:c.T1068C:p.G356G 0.74 0.72 0.69 0.93 0.59 0.74 0.6653 0.7101 0.7409 0.9385 0.6359 0.6046 0.6449 0.6991 0.66 0.72 0.62 0.69 0.67 rs267236 COSM4158052 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6679 0.7079 0.7301 0.5893 0.9398 0.6410 0.6085 0.6196 0.6963 0.6736 0.6993 0.7189 0.6126 0.9456 0.6236 0.6405 0.6599 het 1141.43 114 3 45637439 . T C 1141.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.663;DP=114;Dels=0.00;FS=8.489;HRun=1;HaplotypeScore=0.8667;MQ=59.47;MQ0=0;MQRankSum=-0.211;QD=10.01;ReadPosRankSum=0.763;VQSLOD=4.6301;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,43:114:99:1171,0,1929 3 45779136 45779136 A T exonic SACM1L nonsynonymous SNV SACM1L:NM_001319072:exon14:c.A1118T:p.Y373F,SACM1L:NM_014016:exon15:c.A1301T:p.Y434F,SACM1L:NM_001319073:exon16:c.A992T:p.Y331F 0.55 0.65 0.57 0.4 0.68 0.41 0.6017 0.6385 0.5120 0.3902 0.6696 0.6636 0.5947 0.4751 0.65 0.63 0.66 0.49 0.52 rs1468542 COSM149368 1(stomach);3(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.040 B 0.000 0.843 D 0.000 0.530 P -0.655 0.021 N 2.0 0.215 T 1.19 0.014 N 0.125 0.356 -0.985 0.339 T 0.000 0.000 T . . . 1.306 0.221 12.30 0.498 0.042 0.974 0.741 D c -0.306 -0.003 1.000 0.747 0.707 0.730 0 6.06 0.983 5.791 0.685 1.199 0.960 1.000 0.715 0.997 0.653 16.613 0.847 SAC domain ENSG00000244357.2|ENSG00000244357.2|ENSG00000211456.6|ENSG00000211456.6 Muscle_Skeletal|Nerve_Tibial|Thyroid|Whole_Blood 0.6013 0.6387 0.5151 0.7014 0.3937 0.6597 0.6590 0.6333 0.4682 0.6311 0.6326 0.5489 0.7252 0.4071 0.6803 0.6466 0.6166 het 999.87 88 3 45779136 . A T 999.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.775;DP=88;Dels=0.00;FS=0.843;HRun=3;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;MQRankSum=-0.054;QD=11.36;ReadPosRankSum=-1.529;VQSLOD=6.0267;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,40:88:99:1030,0,1171 3 45817418 45817418 A G exonic SLC6A20 synonymous SNV SLC6A20:NM_020208:exon4:c.T417C:p.C139C,SLC6A20:NM_022405:exon4:c.T417C:p.C139C 0.95 0.97 0.98 0.91 0.95 0.93 0.9565 0.9693 0.9638 0.9148 0.9459 0.9601 0.9637 0.9546 0.96 0.97 0.96 0.92 0.96 rs758386 . . Likely benign Hyperglycinuria RCV000311879.1 MedGen:OMIM C0543541:138500 Immune reponse to smallpox (secreted TNF-alpha) . . 22610502 rs758386 2E-7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9567 0.9709 0.9644 0.9838 0.9125 0.9509 0.9578 0.9641 0.9567 0.9568 0.9709 0.9737 0.9801 0.9251 0.9513 0.9532 0.9357 hom 6650.59 208 3 45817418 . A G 6650.59 Mask AC=2;AF=1.00;AN=2;DP=208;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=59.67;MQ0=0;QD=31.97;VQSLOD=9.3793;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,208:208:99:6649,554,0 3 45996761 45996761 G A exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon14:c.C3924T:p.L1308L 0.87 0.9 0.84 0.95 0.74 0.88 0.7921 0.8841 0.8697 0.9579 0.7640 0.7303 0.8051 0.8530 0.77 0.87 0.72 0.87 0.62 rs1463680 . . Benign|Benign not_specified|Congenital_cataract RCV000249848.1|RCV000334516.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7915 0.8841 0.8615 0.7889 0.9593 0.7649 0.7211 0.7848 0.8517 0.7802 0.8743 0.8449 0.7550 0.9716 0.7447 0.7118 0.7526 hom 7681.96 230 3 45996761 . G A 7681.96 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=59.35;MQ0=0;QD=33.40;VQSLOD=9.4590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7681,605,0 3 46007823 46007823 G T exonic FYCO1 nonsynonymous SNV FYCO1:NM_024513:exon8:c.C3003A:p.N1001K 0.11 0.0053 0.059 0.004 0.12 0.36 0.1263 0.0182 0.0572 0.0030 0.1459 0.1170 0.1311 0.3370 0.0009 . 0.0014 . 0.066 rs13079478 . . Benign|Benign not_specified|Congenital_cataract RCV000253960.1|RCV000370197.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 0.098 0.308 T 0.014 0.156 B 0.013 0.154 B 0.030 0.254 N 1 0.090 P 1.39 0.351 L -1.32 0.798 T -0.93 0.264 N 0.033 0.013 -1.103 0.038 T 0.002 0.006 T . . . 0.770 0.167 9.274 0.966 0.300 0.223 0.215 N c -0.888 -0.791 1.000 0.480 0.563 0.310 0 1.44 0.215 0.322 0.192 -0.097 0.117 0.046 0.210 0.830 0.347 3.533 0.073 . ENSG00000172215.5 Artery_Aorta 0.1257 0.0164 0.0610 0.1876 0.0029 0.1458 0.1112 0.1165 0.3388 0.0851 0.0174 0.0561 0.1291 0.0012 0.1294 0.1218 0.1176 het 1382.01 105 3 46007823 . G T 1382.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.336;DP=105;Dels=0.00;FS=0.733;HRun=2;HaplotypeScore=1.8835;MQ=58.66;MQ0=0;MQRankSum=0.336;QD=13.16;ReadPosRankSum=-2.477;VQSLOD=5.0547;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,53:105:99:1412,0,1397 3 46007825 46007825 T C exonic FYCO1 nonsynonymous SNV FYCO1:NM_024513:exon8:c.A3001G:p.N1001D 0.11 0.019 0.063 0.004 0.12 0.36 0.1289 0.0305 0.0611 0.0030 0.1462 0.1190 0.1355 0.3371 0.0058 0.0091 0.0041 0.011 0.049 rs13059238 . . Benign|Benign not_specified|Congenital_cataract RCV000249183.1|RCV000330739.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.030 0.254 N 1 0.090 P -1.14 0.009 N -1.28 0.794 T 0.49 0.035 N 0.011 0.001 -1.093 0.051 T 0.002 0.005 T . . . -0.642 0.048 0.098 0.417 0.030 0.055 0.113 N c -1.116 -0.972 1.000 0.489 0.563 0.310 0 2.29 0.275 0.912 0.280 -0.328 0.075 0.024 0.198 0.787 0.332 4.077 0.093 . ENSG00000172215.5 Artery_Aorta 0.1282 0.0286 0.0647 0.2006 0.0029 0.1458 0.1124 0.1225 0.3390 0.0890 0.0295 0.0644 0.1391 0.0012 0.1289 0.1223 0.1196 het 1186.58 103 3 46007825 . T C 1186.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.171;DP=103;Dels=0.00;FS=4.900;HRun=0;HaplotypeScore=2.8624;MQ=58.64;MQ0=0;MQRankSum=0.208;QD=11.52;ReadPosRankSum=-2.088;VQSLOD=4.7974;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1217,0,1406 3 46008087 46008087 G A exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon8:c.C2739T:p.C913C 0.11 0.0076 0.06 0.004 0.12 0.36 0.1271 0.0207 0.0577 0.0030 0.1474 0.1175 0.1330 0.3370 0.081 0.025 0.11 0.065 0.066 rs13079869 COSM4158058 1(thyroid) Benign|Benign not_specified|Congenital_cataract RCV000244760.1|RCV000280102.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1260 0.0187 0.0614 0.1879 0.0030 0.1465 0.1114 0.1173 0.3384 0.0863 0.0194 0.0561 0.1291 0.0012 0.1294 0.1230 0.1202 het 1331.95 120 3 46008087 . G A 1331.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.327;DP=120;Dels=0.00;FS=2.420;HRun=0;HaplotypeScore=3.6609;MQ=59.30;MQ0=0;MQRankSum=1.338;QD=11.10;ReadPosRankSum=-0.269;VQSLOD=6.1095;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,55:120:99:1362,0,1792 3 46009487 46009487 G A exonic FYCO1 nonsynonymous SNV FYCO1:NM_024513:exon8:c.C1339T:p.R447C 0.11 0.017 0.059 0.005 0.12 0.36 0.1276 0.0295 0.0574 0.0030 0.1470 0.1173 0.1311 0.3374 0.083 0.031 0.11 0.065 0.066 rs33910087 COSM5880567 1(soft_tissue) Benign|Benign not_specified|Congenital_cataract RCV000251621.1|RCV000290339.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 0.048 0.400 D 0.712 0.523 P 0.216 0.386 B 0.577 0.055 N 1 0.090 P 1.175 0.300 L 2.03 0.215 T -2.1 0.478 N 0.094 0.094 -1.045 0.157 T 0.000 0.001 T . . . 0.301 0.123 5.702 0.924 0.212 0.206 0.209 N c -0.899 -1.087 1.000 0.747 0.707 0.730 0 -5.38 0.025 -0.816 0.045 -0.418 0.060 0.000 0.063 0.001 0.043 0.960 0.013 . ENSG00000172215.5 Artery_Aorta 0.1267 0.0278 0.0615 0.1878 0.0030 0.1466 0.1116 0.1172 0.3390 0.0891 0.0288 0.0585 0.1291 0.0012 0.1294 0.1231 0.1207 het 4493.50 250 3 46009487 . G A 4493.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.824;DP=250;DS;Dels=0.00;FS=5.600;HRun=0;HaplotypeScore=5.4608;MQ=59.56;MQ0=0;MQRankSum=0.273;QD=17.97;ReadPosRankSum=0.712;VQSLOD=3.4447;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,129:250:99:3788,0,3116 3 46009491 46009491 C T exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon8:c.G1335A:p.L445L 0.16 0.033 0.15 0.29 0.21 0.16 0.1829 0.0642 0.1384 0.2839 0.1740 0.2043 0.1843 0.1529 0.15 0.067 0.2 0.15 0.19 rs3796376 COSM3760118 3(haematopoietic_and_lymphoid_tissue);1(large_intestine);1(biliary_tract) Benign|Benign not_specified|Congenital_cataract RCV000246478.1|RCV000328833.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1827 0.0601 0.1444 0.2032 0.2866 0.1712 0.2029 0.2001 0.1525 0.1577 0.0611 0.1639 0.2033 0.2791 0.1907 0.1908 0.1755 het 4287.15 250 3 46009491 . C T 4287.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.076;DP=250;DS;Dels=0.00;FS=0.502;HRun=0;HaplotypeScore=8.4580;MQ=59.56;MQ0=0;MQRankSum=0.724;QD=17.15;ReadPosRankSum=-0.893;VQSLOD=3.1100;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3561,0,4046 3 46009864 46009864 C G exonic FYCO1 nonsynonymous SNV FYCO1:NM_024513:exon8:c.G962C:p.G321A 0.53 0.21 0.64 0.67 0.56 0.73 0.5670 0.2422 0.6877 0.6783 0.6134 0.5445 0.6024 0.6991 0.44 0.25 0.54 0.4 0.48 rs3733100 COSM4158060 1(thyroid) Benign|Benign not_specified|Congenital_cataract RCV000242928.1|RCV000352891.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.486 N 1.000 0.090 P -1.78 0.003 N 2.22 0.182 T 1.69 0.006 N 0.035 0.015 -0.946 0.417 T 0.000 0.000 T . . . -0.599 0.050 0.126 0.074 0.000 0.048 0.104 N c -1.276 -1.015 1.000 0.747 0.707 0.730 0 3.84 0.433 2.487 0.447 -0.275 0.085 0.853 0.302 0.447 0.262 7.651 0.273 . ENSG00000163820.10|ENSG00000172215.5|ENSG00000163823.3 Muscle_Skeletal|Muscle_Skeletal|Whole_Blood 0.5781 0.2329 0.6773 0.5949 0.6744 0.6211 0.5377 0.5732 0.6988 0.4699 0.2393 0.6504 0.5497 0.6943 0.5737 0.5377 0.5667 het 1315.25 132 3 46009864 . C G 1315.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.559;DP=132;Dels=0.00;FS=13.530;HRun=2;HaplotypeScore=4.2030;MQ=59.29;MQ0=0;MQRankSum=-0.753;QD=9.96;ReadPosRankSum=0.324;VQSLOD=3.3394;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,51:132:99:1345,0,2404 3 46010007 46010007 T C exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon8:c.A819G:p.Q273Q 0.11 0.02 0.063 0.004 0.12 0.36 0.1290 0.0305 0.0610 0.0030 0.1465 0.1191 0.1358 0.3375 0.085 0.031 0.11 0.076 0.066 rs13071283 COSM4158061 1(thyroid) Benign|Benign not_specified|Congenital_cataract RCV000251552.1|RCV000365307.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1283 0.0286 0.0647 0.2007 0.0030 0.1461 0.1127 0.1229 0.3393 0.0899 0.0294 0.0644 0.1391 0.0012 0.1294 0.1237 0.1222 het 1190.16 104 3 46010007 . T C 1190.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.375;DP=104;Dels=0.00;FS=0.755;HRun=0;HaplotypeScore=1.5592;MQ=59.56;MQ0=0;MQRankSum=0.605;QD=11.44;ReadPosRankSum=-1.490;VQSLOD=6.1523;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,41:104:99:1220,0,1736 3 46010077 46010077 C T exonic FYCO1 nonsynonymous SNV FYCO1:NM_024513:exon8:c.G749A:p.R250Q 0.93 0.98 0.91 1. 0.8 0.92 0.8468 0.9561 0.9305 0.9997 0.8064 0.7852 0.8667 0.9035 0.83 0.94 0.77 0.95 0.74 rs4683158 . . Benign|Benign not_specified|Congenital_cataract RCV000246802.1|RCV000325885.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 0.374 0.132 T 0.0 0.026 B 0.0 0.013 B 0.000 0.481 N 1.000 0.090 P -2.67 0.000 N 2.24 0.179 T 1.62 0.006 N 0.079 0.071 -0.966 0.380 T 0.000 0.000 T . . . 4.402 0.589 24.1 0.994 0.619 0.410 0.263 N c -0.899 -0.556 1.000 0.747 0.719 0.830 0 5.45 0.796 2.162 0.418 0.090 0.195 1.000 0.715 0.788 0.332 10.127 0.416 . ENSG00000163820.10|ENSG00000163820.10|ENSG00000163820.10|ENSG00000163820.10|ENSG00000173578.6|ENSG00000163820.10 Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8463 0.9578 0.9257 0.8459 0.9995 0.8098 0.7757 0.8430 0.9015 0.8396 0.9525 0.9115 0.8311 0.9994 0.7859 0.7674 0.8078 hom 3015.10 97 3 46010077 . C T 3015.10 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4888;MQ=59.33;MQ0=0;QD=31.08;VQSLOD=8.8012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3048,235,0 3 46021218 46021218 G T exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon4:c.C267A:p.R89R 0.76 0.38 0.87 1. 0.8 0.92 0.7989 0.4337 0.9088 0.9997 0.8062 0.7838 0.8414 0.9027 0.66 0.44 0.77 0.75 0.69 rs4682801 . . Benign|Benign not_specified|Congenital_cataract RCV000252557.1|RCV000337740.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8085 0.4229 0.9026 0.8455 0.9995 0.8088 0.7743 0.8183 0.9006 0.6898 0.4278 0.8866 0.8311 0.9994 0.7845 0.7665 0.7837 hom 5822.26 181 3 46021218 . G T 5822.26 Mask AC=2;AF=1.00;AN=2;DP=181;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5779;MQ=59.66;MQ0=0;QD=32.17;VQSLOD=9.4792;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5821,481,0 3 46063329 46063329 T C exonic XCR1 synonymous SNV XCR1:NM_001024644:exon2:c.A111G:p.L37L,XCR1:NM_005283:exon3:c.A111G:p.L37L 0.23 0.44 0.091 0.047 0.12 0.35 0.1646 0.4031 0.0725 0.0525 0.1464 0.1169 0.1443 0.3390 0.21 0.4 0.11 0.25 0.098 rs2230322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1562 0.4056 0.0774 0.1871 0.0532 0.1453 0.1115 0.1348 0.3399 0.1962 0.3951 0.0730 0.1291 0.0484 0.1284 0.1242 0.1421 het 1346.93 86 3 46063329 . T C 1346.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.535;DP=86;Dels=0.00;FS=1.775;HRun=0;HaplotypeScore=0.8321;MQ=58.80;MQ0=0;MQRankSum=-1.265;QD=15.66;ReadPosRankSum=1.491;VQSLOD=5.2876;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,48:86:99:1377,0,1071 3 46399208 46399208 G A exonic CCR2 nonsynonymous SNV CCR2:NM_001123041:exon2:c.G190A:p.V64I,CCR2:NM_001123396:exon2:c.G190A:p.V64I 0.15 0.17 0.21 0.21 0.086 0.098 0.1267 0.1610 0.2391 0.2070 0.0652 0.1020 0.1090 0.1097 0.11 0.16 0.092 0.17 0.14 rs1799864 COSM3760120;COSM3760119 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other Human_immunodeficiency_virus_type_1\x2c_susceptibility_to RCV000008756.2 MedGen:OMIM C1836230:609423 . . . . . . 0.327 0.157 T 0.079 0.276 B 0.129 0.312 B 0.089 0.204 N 1.000 0.090 P 0.775 0.195 N -0.42 0.695 T -0.48 0.162 N 0.241 0.295 -1.092 0.052 T 0.000 0.000 T . . . 0.990 0.189 10.60 0.976 0.344 0.562 0.298 D c -0.419 -0.346 1.000 0.462 0.554 0.283 0 1.62 0.227 1.125 0.307 0.154 0.240 0.760 0.290 0.655 0.299 4.619 0.117 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1263 0.1625 0.2301 0.1244 0.2055 0.0662 0.0944 0.1253 0.1109 0.1205 0.1579 0.2201 0.0960 0.1917 0.0754 0.0971 0.1100 het 3004.32 228 3 46399208 . G A 3004.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.699;DP=228;Dels=0.00;FS=5.667;HRun=0;HaplotypeScore=8.9838;MQ=58.93;MQ0=1;MQRankSum=0.304;QD=13.18;ReadPosRankSum=-0.747;VQSLOD=3.6123;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,109:228:99:3034,0,2936 3 46449978 46449978 A C exonic CCRL2 synonymous SNV CCRL2:NM_001130910:exon2:c.A444C:p.G148G,CCRL2:NM_003965:exon2:c.A408C:p.G136G 0.34 0.048 0.37 0.56 0.4 0.41 0.3794 0.0823 0.3487 0.5463 0.3388 0.4011 0.3989 0.4176 0.3 0.086 0.4 0.28 0.38 rs11266744 COSM3760121 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3824 0.0787 0.3535 0.4372 0.5513 0.3359 0.4000 0.4235 0.4153 0.3039 0.0882 0.3604 0.4371 0.5923 0.3266 0.3857 0.3320 het 2007.44 163 3 46449978 . A C 2007.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.982;DP=163;Dels=0.00;FS=1.230;HRun=0;HaplotypeScore=10.3919;MQ=59.49;MQ0=0;MQRankSum=1.233;QD=12.32;ReadPosRankSum=-1.317;VQSLOD=3.6193;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,73:163:99:2037,0,2380 3 46450070 46450070 T A exonic CCRL2 nonsynonymous SNV CCRL2:NM_001130910:exon2:c.T536A:p.F179Y,CCRL2:NM_003965:exon2:c.T500A:p.F167Y 0.35 0.088 0.38 0.56 0.4 0.41 0.3800 0.1237 0.3506 0.5471 0.3334 0.3967 0.3967 0.4159 0.31 0.13 0.39 0.29 0.37 rs3204849 COSM3760122 10(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.25 0.586 T 0.706 0.401 P 0.142 0.388 B 0.122 0.027 N 1 0.090 P 2.3 0.659 M 1.16 0.381 T -1.25 0.320 N 0.351 0.412 -1.010 0.271 T 0.000 0.000 T . . . 0.472 0.139 7.214 0.695 0.087 0.173 0.196 N c -1.105 -1.338 1.000 0.747 0.539 0.216 0 -7.81 0.011 0.213 0.172 -0.706 0.037 0.000 0.063 0.000 0.016 3.534 0.073 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3825 0.1199 0.3543 0.4342 0.5515 0.3318 0.3958 0.4210 0.4138 0.3117 0.1251 0.3592 0.4437 0.5914 0.3223 0.3812 0.3313 het 1700.66 141 3 46450070 . T A 1700.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.663;DP=141;Dels=0.00;FS=1.329;HRun=0;HaplotypeScore=4.7697;MQ=59.07;MQ0=0;MQRankSum=-0.151;QD=12.06;ReadPosRankSum=1.170;VQSLOD=4.8728;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,67:141:99:1731,0,1975 3 46480801 46480801 A G exonic LTF synonymous SNV LTF:NM_001199149:exon15:c.T1762C:p.L588L,LTF:NM_001321121:exon15:c.T1888C:p.L630L,LTF:NM_002343:exon15:c.T1894C:p.L632L,LTF:NM_001321122:exon18:c.T1855C:p.L619L 0.52 0.65 0.4 0.63 0.31 0.54 0.3998 0.5857 0.4015 0.6587 0.3838 0.2940 0.3918 0.5850 0.38 0.58 0.28 0.53 0.32 rs9110 COSM3722437 1(cervix);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3908 0.5913 0.3857 0.3301 0.6481 0.3724 0.2858 0.3546 0.5701 0.4102 0.5882 0.3708 0.3079 0.6446 0.3614 0.2990 0.3778 het 2549.94 201 3 46480801 . A G 2549.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.614;DP=201;Dels=0.00;FS=4.117;HRun=0;HaplotypeScore=7.4673;MQ=59.26;MQ0=0;MQRankSum=0.367;QD=12.69;ReadPosRankSum=0.979;VQSLOD=4.4699;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,99:201:99:2580,0,2592 3 46484964 46484964 G A exonic LTF synonymous SNV LTF:NM_001199149:exon13:c.C1491T:p.N497N,LTF:NM_001321121:exon13:c.C1617T:p.N539N,LTF:NM_002343:exon13:c.C1623T:p.N541N,LTF:NM_001321122:exon16:c.C1584T:p.N528N 0.45 0.41 0.3 0.64 0.34 0.52 0.3691 0.3917 0.2449 0.6774 0.3939 0.3076 0.3822 0.5184 0.33 0.4 0.3 0.41 0.31 rs1042073 COSM4419595 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3646 0.3901 0.2487 0.3581 0.6747 0.3870 0.3017 0.3488 0.5215 0.3627 0.3811 0.2673 0.3278 0.6832 0.3812 0.3186 0.3694 het 2415.05 238 3 46484964 . G A 2415.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.397;DP=238;DS;Dels=0.00;FS=2.238;HRun=0;HaplotypeScore=3.9919;MQ=58.92;MQ0=0;MQRankSum=-0.529;QD=10.15;ReadPosRankSum=-1.621;VQSLOD=5.2642;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,95:238:99:2445,0,3738 3 46490366 46490366 G A exonic LTF synonymous SNV LTF:NM_001199149:exon9:c.C1068T:p.I356I,LTF:NM_001321121:exon9:c.C1200T:p.I400I,LTF:NM_002343:exon9:c.C1200T:p.I400I,LTF:NM_001321122:exon12:c.C1161T:p.I387I 0.16 0.19 0.22 0.2 0.08 0.12 0.1223 0.1770 0.2102 0.2209 0.1024 0.0897 0.1378 0.1130 0.12 0.18 0.085 0.11 0.14 rs2230895 COSM3760123 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1235 0.1744 0.2154 0.1561 0.2155 0.0982 0.0812 0.1147 0.1105 0.1261 0.1684 0.2220 0.1093 0.2149 0.0980 0.0945 0.1094 het 745.20 48 3 46490366 . G A 745.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.117;DP=48;Dels=0.00;FS=1.146;HRun=1;HaplotypeScore=1.5777;MQ=59.22;MQ0=0;MQRankSum=-0.229;QD=15.52;ReadPosRankSum=0.561;VQSLOD=6.5701;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,27:48:99:775,0,519 3 46490474 46490474 G A exonic LTF synonymous SNV LTF:NM_001199149:exon9:c.C960T:p.V320V,LTF:NM_001321121:exon9:c.C1092T:p.V364V,LTF:NM_002343:exon9:c.C1092T:p.V364V,LTF:NM_001321122:exon12:c.C1053T:p.V351V 0.22 0.2 0.27 0.2 0.16 0.28 0.1948 0.1903 0.2467 0.2277 0.2222 0.1617 0.2068 0.2642 0.17 0.19 0.16 0.17 0.15 rs2230894 COSM4158062 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1951 0.1862 0.2550 0.1932 0.2247 0.2114 0.1534 0.1719 0.2605 0.1834 0.1821 0.2476 0.1391 0.2239 0.2 0.1728 0.1881 het 539.17 36 3 46490474 . G A 539.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.191;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=0.936;QD=14.98;ReadPosRankSum=0.416;VQSLOD=6.8638;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,19:36:99:569,0,362 3 46501213 46501213 T C exonic LTF nonsynonymous SNV LTF:NM_001199149:exon2:c.A8G:p.K3R,LTF:NM_001321121:exon2:c.A140G:p.K47R,LTF:NM_002343:exon2:c.A140G:p.K47R,LTF:NM_001321122:exon5:c.A101G:p.K34R 0.63 0.96 0.49 0.65 0.35 0.53 0.4371 0.8732 0.4108 0.6846 0.4018 0.3224 0.4176 0.5309 0.5 0.86 0.32 0.63 0.34 rs1126478 COSM3760124 13(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.396 0.128 T 0.0 0.026 B 0.002 0.063 B 0.652 0.105 N 1 0.090 P 0.315 0.103 N 1.32 0.352 T -0.97 0.281 N 0.019 0.196 -1.061 0.114 T 0.000 0.000 T . . . -2.534 0.003 0.001 0.726 0.097 0.009 0.034 N c -2.075 -2.186 1.000 0.747 0.615 0.372 0 -9.66 0.004 -2.403 0.011 -0.746 0.035 0.000 0.063 0.001 0.043 6.321 0.203 Transferrin-like domain . . 0.4097 0.8749 0.4044 0.3676 0.6654 0.3947 0.3071 0.3815 0.5182 0.5146 0.8652 0.4284 0.3444 0.6892 0.3876 0.3356 0.4160 het 906.84 81 3 46501213 . T C 906.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.841;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5324;MQ=57.47;MQ0=0;MQRankSum=0.668;QD=11.20;ReadPosRankSum=-0.014;VQSLOD=4.9503;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,33:81:99:937,0,1351 3 46501268 46501268 C T exonic LTF nonsynonymous SNV LTF:NM_001321121:exon2:c.G85A:p.A29T,LTF:NM_002343:exon2:c.G85A:p.A29T,LTF:NM_001321122:exon5:c.G46A:p.A16T 0.47 0.77 0.42 0.42 0.26 0.37 0.3331 0.7067 0.3647 0.4298 0.2621 0.2508 0.3307 0.3829 0.4 0.7 0.24 0.42 0.3 rs1126477 COSM3760125 12(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.004 0.163 B 0.006 0.139 B 0.265 0.152 N 1 0.090 P -0.855 0.015 N 2.51 0.340 T 1.81 0.011 N 0.021 0.095 -0.982 0.345 T 0.000 0.000 T . . . -1.788 0.011 0.002 0.136 0.003 0.001 0.009 N c -2.291 -2.274 0.889 0.258 0.554 0.283 0 -3.58 0.043 -1.849 0.018 -1.289 0.014 0.000 0.063 0.001 0.043 12.804 0.568 Transferrin-like domain . . 0.3408 0.7181 0.4170 0.3643 0.4685 0.2652 0.2580 0.3379 0.4026 0.5249 0.7476 0.4822 0.4524 0.5782 0.3546 0.3859 0.4516 het 657.02 48 3 46501268 . C T 657.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.524;DP=48;Dels=0.00;FS=2.700;HRun=0;HaplotypeScore=1.6483;MQ=56.63;MQ0=0;MQRankSum=-0.695;QD=13.69;ReadPosRankSum=-1.016;VQSLOD=3.6365;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,26:48:99:687,0,579 3 46501284 46501284 - CTT exonic LTF nonframeshift insertion LTF:NM_001321121:exon2:c.68_69insAAG:p.R23_S24insR,LTF:NM_002343:exon2:c.68_69insAAG:p.R23_S24insR,LTF:NM_001321122:exon5:c.29_30insAAG:p.R10_S11insR 0.99 1. 0.98 1. 0.97 1. 0.9813 0.9946 0.9888 0.9998 0.9814 0.9728 0.9856 0.9926 0.98 0.99 0.97 0.63 . rs55665884 COSM5713079 4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9805 0.9943 0.9867 0.9887 0.9998 0.9829 0.9710 0.9799 0.9927 0.9804 0.9944 0.9880 0.9901 1 0.9817 0.9692 0.9816 hom 2497.56 42 3 46501284 . C CCTT 2497.56 Mask AC=2;AF=1.00;AN=2;DP=42;FS=0.000;HRun=0;HaplotypeScore=193.9642;MQ=56.95;MQ0=0;QD=59.47;set=variant2 GT:AD:DP:GQ:PL 1/1:3,38:42:99:2540,117,0 3 46580591 46580591 G T exonic LRRC2 nonsynonymous SNV LRRC2:NM_024512:exon4:c.C434A:p.A145E 0.29 0.12 0.26 0.28 0.37 0.45 0.3377 0.1467 0.2139 0.3009 0.4672 0.3510 0.3579 0.4572 0.27 0.15 0.34 0.25 0.3 rs17078944 . . . . . . . . . . . . . 0.767 0.034 T 0.002 0.090 B 0.002 0.063 B 0.252 0.155 N 1 0.090 P 0.83 0.210 L 0.96 0.429 T 1.24 0.010 N 0.066 0.058 -0.923 0.451 T 0.000 0.000 T . . . 0.677 0.159 8.676 0.713 0.093 0.447 0.271 N c -0.579 -0.466 1.000 0.747 0.447 0.086 2 1.79 0.239 2.911 0.482 1.048 0.713 0.996 0.391 0.984 0.507 6.035 0.188 Leucine-rich repeat domain\x2c L domain-like ENSG00000241186.3|ENSG00000241186.3|ENSG00000163827.8|ENSG00000241186.3|ENSG00000163827.8|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis 0.3374 0.1433 0.2132 0.3098 0.3091 0.4644 0.3485 0.3466 0.4595 0.3024 0.1557 0.2321 0.2881 0.3073 0.4449 0.3542 0.3661 het 1217.71 132 3 46580591 . G T 1217.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.721;DP=132;Dels=0.00;FS=2.328;HRun=0;HaplotypeScore=1.9961;MQ=59.40;MQ0=0;MQRankSum=-1.248;QD=9.23;ReadPosRankSum=0.867;VQSLOD=5.0988;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,49:132:99:1248,0,2078 3 46620614 46620614 T C exonic TDGF1 nonsynonymous SNV TDGF1:NM_001174136:exon2:c.T17C:p.V6A,TDGF1:NM_003212:exon2:c.T65C:p.V22A 0.51 0.49 0.49 0.42 0.55 0.59 0.5243 0.4915 0.4178 0.4113 0.5230 0.5455 0.5 0.5948 0.52 0.49 0.53 0.46 0.42 rs11130097 COSM3760126 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.277 0.150 N 1.000 0.090 P -0.895 0.014 N 0.21 0.600 T 1.26 0.010 N 0.033 0.016 -0.925 0.449 T 0.000 0.000 T . . . -1.764 0.012 0.002 0.713 0.093 0.002 0.014 N c -1.597 -1.505 1.000 0.747 0.628 0.401 0 1.43 0.215 -0.221 0.091 -0.337 0.073 0.000 0.063 0.013 0.120 6.691 0.222 . ENSG00000241186.3|ENSG00000241186.3|ENSG00000163827.8|ENSG00000241186.3|ENSG00000163827.8|ENSG00000163827.8|ENSG00000163827.8|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000268324.1|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000241186.3|ENSG00000268324.1|ENSG00000163827.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis|Testis|Testis 0.5177 0.4916 0.4298 0.4657 0.4067 0.5188 0.5467 0.5374 0.5957 0.5103 0.4906 0.4379 0.4735 0.4215 0.5164 0.5341 0.5184 het 2182.91 210 3 46620614 . T C 2182.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.742;DP=210;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6208;MQ=58.71;MQ0=0;MQRankSum=-1.834;QD=10.39;ReadPosRankSum=-0.363;VQSLOD=5.1490;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:122,87:210:99:2213,0,3033 3 46723551 46723551 G A exonic ALS2CL synonymous SNV ALS2CL:NM_001190707:exon11:c.C1143T:p.H381H,ALS2CL:NM_147129:exon11:c.C1143T:p.H381H 0.31 0.097 0.41 0.34 0.42 0.4 0.4006 0.1580 0.4480 0.3610 0.4498 0.4268 0.4135 0.4103 0.34 0.16 0.43 0.18 0.28 rs4683310 COSM4158065 1(bone);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4042 0.1473 0.4365 0.4345 0.3653 0.4477 0.4249 0.4032 0.4023 0.3491 0.1637 0.4315 0.4667 0.3772 0.4356 0.4211 0.4384 het 670.16 50 3 46723551 . G A 670.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.355;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8410;MQ=59.07;MQ0=0;MQRankSum=-0.401;QD=13.40;ReadPosRankSum=0.322;VQSLOD=6.5890;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,28:50:99:700,0,560 3 46751074 46751076 AAG - exonic TMIE nonframeshift deletion TMIE:NM_147196:exon4:c.367_369del:p.K131del 0.75 0.84 0.77 0.66 0.72 0.76 0.6205 0.7096 0.6254 0.5955 0.7236 0.6185 0.6227 0.5439 . . . . . rs869283685 COSM4589991 18(upper_aerodigestive_tract);6(central_nervous_system) Benign not_specified RCV000041234.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6146 0.7097 0.5979 0.5634 0.5668 0.7032 0.6125 0.5922 0.5470 0.7384 0.8240 0.7552 0.7407 0.6507 0.6931 0.7058 0.7275 hom 5088.39 191 3 46751073 . TAAG T 5088.39 Mask AC=2;AF=1.00;AN=2;DP=191;DS;FS=0.000;HRun=0;HaplotypeScore=800.3187;MQ=59.82;MQ0=0;QD=26.64;set=variant2 GT:AD:DP:GQ:PL 1/1:62,126:191:99:5088,386,0 3 46755937 46755937 C T exonic PRSS50 synonymous SNV PRSS50:NM_013270:exon4:c.G525A:p.T175T 0.38 0.7 0.29 0.27 0.16 0.36 0.2773 0.6227 0.3636 0.2814 0.2741 0.1807 0.2322 0.3574 0.29 0.58 0.15 0.48 0.098 rs12492868 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2366 0.6170 0.3103 0.2016 0.2349 0.2256 0.1459 0.2056 0.3262 0.2917 0.5951 0.2959 0.1722 0.2270 0.2297 0.1455 0.1975 het 411.19 37 3 46755937 . C T 411.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DP=37;Dels=0.00;FS=10.272;HRun=0;HaplotypeScore=0.9159;MQ=59.38;MQ0=0;MQRankSum=0.259;QD=11.11;ReadPosRankSum=-1.966;VQSLOD=3.4448;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,17:37:99:441,0,528 3 46759010 46759010 T G exonic PRSS50 nonsynonymous SNV PRSS50:NM_013270:exon2:c.A224C:p.Q75P 0.31 0.6 0.25 0.26 0.089 0.24 0.1701 0.5162 0.3004 0.2422 0.0922 0.0844 0.1317 0.2005 0.22 0.5 0.081 0.26 0.057 rs34788938 COSM4002702 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(pancreas) . . . . . . . . . . . 0.008 0.586 D 0.838 0.444 P 0.278 0.385 B 0.127 0.028 N 1 0.090 P 1.04 0.263 L -2.48 0.891 D -0.68 0.195 N 0.138 0.163 -1.020 0.237 T 0.000 0.000 T . . . 2.809 0.399 21.4 0.982 0.387 0.028 0.074 N c -0.646 -0.785 0.019 0.131 0.653 0.483 0 2.16 0.265 0.031 0.135 0.961 0.567 0.000 0.063 0.004 0.083 5.878 0.180 . . . 0.1661 0.5270 0.2824 0.1096 0.2354 0.1001 0.0817 0.1296 0.1989 0.2199 0.5133 0.2661 0.0728 0.2282 0.1009 0.0834 0.1286 het 976.81 92 3 46759010 . T G 976.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5624;MQ=59.34;MQ0=0;MQRankSum=1.422;QD=10.62;ReadPosRankSum=0.314;VQSLOD=5.4305;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,41:92:99:1007,0,1470 3 46783959 46783959 T C exonic PRSS45 nonsynonymous SNV PRSS45:NM_199183:exon4:c.A568G:p.I190V 0.26 0.53 0.18 0.12 0.14 0.23 0.1816 0.4661 0.1285 0.0997 0.1907 0.1478 0.1826 0.2251 0.23 0.41 0.14 0.28 . rs58830807 COSM4158070 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.098 0.200 N 1 0.588 P . . . -2.28 0.875 D 0.75 0.020 N 0.039 0.040 -1.047 0.153 T 0.000 0.000 T . . . -2.160 0.006 0.001 0.611 0.065 0.006 0.027 N c -1.351 -1.351 0.008 0.117 0.554 0.283 0 -0.106 0.129 -2.276 0.012 -1.288 0.014 0.000 0.063 0.071 0.176 9.715 0.392 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000261603.1|ENSG00000261603.1|ENSG00000206549.8|ENSG00000188086.8|ENSG00000261603.1|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000178038.12|ENSG00000188086.8|ENSG00000188086.8|ENSG00000178038.12|ENSG00000261603.1|ENSG00000188086.8|ENSG00000188086.8 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Vagina 0.1732 0.4649 0.1243 0.1908 0.0980 0.1895 0.1415 0.1595 0.2241 0.2370 0.4659 0.1355 0.1788 0.0884 0.1947 0.1405 0.1772 het 2145.54 180 3 46783959 . T C 2145.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.444;DP=180;Dels=0.00;FS=8.866;HRun=0;HaplotypeScore=5.1849;MQ=58.71;MQ0=0;MQRankSum=0.531;QD=11.92;ReadPosRankSum=-0.357;VQSLOD=4.3980;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,86:180:99:2176,0,2490 3 46784467 46784467 G A exonic PRSS45 nonsynonymous SNV PRSS45:NM_199183:exon3:c.C389T:p.P130L 0.26 0.53 0.18 0.12 0.14 0.23 0.1829 0.4674 0.1284 0.0993 0.1905 0.1484 0.1868 0.2335 0.23 0.42 0.14 0.27 . rs58943210 COSM3760129 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.311 0.139 T 0.001 0.067 B 0.004 0.093 B 0.055 0.021 N 1.000 0.182 P . . . -2.51 0.893 D -1.62 0.389 N 0.083 0.077 -1.042 0.166 T 0.000 0.000 T . . . -0.914 0.035 0.024 0.474 0.038 0.005 0.024 N c -1.311 -1.419 0.094 0.162 0.554 0.283 0 -4.4 0.033 -1.442 0.025 -1.344 0.013 0.000 0.063 0.000 0.016 6.078 0.190 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000261603.1|ENSG00000261603.1|ENSG00000206549.8|ENSG00000188086.8|ENSG00000261603.1|ENSG00000188086.8|ENSG00000188086.8|ENSG00000188086.8|ENSG00000178038.12|ENSG00000188086.8|ENSG00000188086.8|ENSG00000178038.12|ENSG00000261603.1|ENSG00000188086.8|ENSG00000188086.8 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Vagina 0.1730 0.4648 0.1241 0.1906 0.0978 0.1892 0.1413 0.1595 0.2238 0.2365 0.4648 0.1364 0.1788 0.0886 0.1947 0.1407 0.1752 het 1068.21 69 3 46784467 . G A 1068.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.711;DP=69;Dels=0.00;FS=3.770;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;MQRankSum=-1.081;QD=15.48;ReadPosRankSum=-1.265;VQSLOD=5.4420;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,41:69:99:1098,0,814 3 46944274 46944274 T C exonic PTH1R synonymous SNV PTH1R:NM_001184744:exon14:c.T1389C:p.N463N,PTH1R:NM_000316:exon15:c.T1389C:p.N463N 0.64 0.82 0.65 0.44 0.64 0.6 0.6141 0.8020 0.5694 0.4540 0.6174 0.6215 0.6211 0.5807 0.68 0.8 0.62 0.7 0.58 rs1138518 COSM149372 1(stomach) Benign|Benign Chondrodysplasia|Metaphyseal_chondrodysplasia RCV000288818.1|RCV000404246.1 Human_Phenotype_Ontology:MedGen HP:0005871:CN005173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6079 0.8151 0.5700 0.5707 0.4531 0.6224 0.6231 0.6180 0.5791 0.6623 0.8090 0.5514 0.56 0.4384 0.6252 0.6196 0.6388 het 1479.19 144 3 46944274 . T C 1479.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.534;DP=144;Dels=0.00;FS=1.304;HRun=0;HaplotypeScore=4.7485;MQ=58.81;MQ0=0;MQRankSum=1.024;QD=10.27;ReadPosRankSum=0.963;VQSLOD=5.6070;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,65:144:99:1509,0,1985 3 47018214 47018214 T C exonic CCDC12 synonymous SNV CCDC12:NM_001277074:exon1:c.A9G:p.A3A,CCDC12:NM_144716:exon2:c.A48G:p.A16A 0.94 0.79 0.98 1. 1. 1. 0.9832 0.8170 0.9916 0.9997 1 0.9989 0.9895 1 0.94 0.81 1. 0.9 0.84 rs936181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9866 0.8082 0.9916 0.9951 0.9999 1.0000 0.9990 0.9911 0.9999 0.9461 0.8114 0.9905 0.9934 1 1 0.9993 0.9959 hom 560.82 23 3 47018214 . T C 560.82 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=24.38;VQSLOD=7.8997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:48.13:594,48,0 3 47036756 47036756 C G exonic NBEAL2 nonsynonymous SNV NBEAL2:NM_015175:exon13:c.C1531G:p.R511G 0.32 0.2 0.31 0.34 0.39 0.37 0.4381 0.2787 0.3658 0.4076 0.4752 0.4762 0.4035 0.4306 0.31 0.2 0.36 0.22 . rs11720139 COSM446600;COSM446599 1(liver);1(large_intestine) Benign|Benign not_specified|Gray_platelet_syndrome RCV000242367.1|RCV000279654.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0272302:139090:ORPHA721:51720005 . . . . . . 0.295 0.147 T 0.321 0.313 B 0.066 0.260 B 0.007 0.315 N 0.146 0.810 P 1.61 0.413 L 1.41 0.334 T -1.71 0.406 N 0.143 0.214 -0.910 0.469 T 0.000 0.000 T . . . 1.629 0.257 14.01 0.824 0.137 0.658 0.326 D c -0.380 -0.297 1.000 0.747 0.672 0.522 0 4.54 0.551 1.194 0.316 0.013 0.140 0.553 0.271 0.811 0.340 11.591 0.500 . ENSG00000160796.12|ENSG00000114650.14|ENSG00000160796.12|ENSG00000160796.12|ENSG00000160796.12|ENSG00000160799.7|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000114650.14 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.3598 0.2128 0.2531 0.4024 0.3107 0.3641 0.4036 0.3679 0.4092 0.3392 0.2298 0.3070 0.4305 0.3017 0.3684 0.3985 0.3663 het 245.45 22 3 47036756 . C G 245.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.854;DP=22;Dels=0.00;FS=11.974;HRun=1;HaplotypeScore=1.7172;MQ=58.95;MQ0=0;MQRankSum=0.919;QD=11.16;ReadPosRankSum=-0.131;VQSLOD=3.8491;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,11:22:99:275,0,284 3 47045739 47045739 C G exonic NBEAL2 synonymous SNV NBEAL2:NM_015175:exon37:c.C6054G:p.P2018P 0.47 0.24 0.52 0.54 0.59 0.56 0.5368 0.2796 0.5069 0.5446 0.6065 0.5703 0.5614 0.5419 0.47 0.28 0.57 0.45 . rs1079276 COSM4158076;COSM4158075 1(thyroid) Benign|Benign not_specified|Gray_platelet_syndrome RCV000248146.1|RCV000384483.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0272302:139090:ORPHA721:51720005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5406 0.2803 0.5020 0.5239 0.5474 0.6140 0.5731 0.5570 0.5397 0.4950 0.2832 0.4772 0.4934 0.5457 0.6177 0.5795 0.5818 het 2670.81 218 3 47045739 . C G 2670.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.551;DP=218;DS;Dels=0.00;FS=3.186;HRun=0;HaplotypeScore=6.7523;MQ=58.95;MQ0=0;MQRankSum=0.813;QD=12.25;ReadPosRankSum=1.053;VQSLOD=4.6035;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,108:218:99:2701,0,3103 3 47125385 47125385 G A exonic SETD2 nonsynonymous SNV SETD2:NM_001349370:exon11:c.C5753T:p.P1918L,SETD2:NM_014159:exon12:c.C5885T:p.P1962L 0.47 0.24 0.52 0.53 0.58 0.57 0.5342 0.2794 0.5059 0.5424 0.6053 0.5672 0.5617 0.5471 0.47 0.29 0.57 0.43 0.6 rs4082155 COSM149376;COSM149375 1(stomach);15(soft_tissue);5(prostate) not provided not_specified RCV000122014.1 MedGen CN169374 . . . . . . 0.311 0.139 T 0.001 0.067 B 0.002 0.063 B 0.655 0.105 N 0.090 0.364 P 0.895 0.225 L 1.98 0.219 T -0.3 0.119 N 0.195 0.239 -0.947 0.416 T 0.000 0.000 T . . . 1.276 0.218 12.14 0.939 0.234 0.565 0.299 D c -0.703 -0.512 1.000 0.747 0.731 0.878 0 2.94 0.330 0.296 0.187 0.135 0.219 0.092 0.224 0.998 0.697 5.284 0.149 . ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000160796.12|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000114650.14 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.5390 0.2780 0.5007 0.5209 0.5429 0.6128 0.5701 0.5544 0.5449 0.4931 0.2820 0.4771 0.4933 0.5424 0.6158 0.5774 0.5767 het 1913.34 159 3 47125385 . G A 1913.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.235;DP=159;Dels=0.00;FS=2.072;HRun=0;HaplotypeScore=4.6235;MQ=59.74;MQ0=0;MQRankSum=-0.313;QD=12.03;ReadPosRankSum=0.905;VQSLOD=5.4528;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,70:159:99:1943,0,2638 3 47162661 47162661 A G exonic SETD2 synonymous SNV SETD2:NM_001349370:exon2:c.T3333C:p.N1111N,SETD2:NM_014159:exon3:c.T3465C:p.N1155N 0.68 0.78 0.68 0.66 0.61 0.63 0.6343 0.7569 0.7728 0.6820 0.6234 0.5953 0.6358 0.5982 0.64 0.75 0.59 0.69 0.61 rs6767907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6375 0.7676 0.7550 0.5940 0.6814 0.6317 0.5942 0.6294 0.5964 0.6568 0.7570 0.6945 0.5667 0.6937 0.6316 0.6017 0.6337 het 1754.82 157 3 47162661 . A G 1754.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.571;DP=157;Dels=0.00;FS=3.794;HRun=1;HaplotypeScore=9.4035;MQ=59.34;MQ0=0;MQRankSum=-1.488;QD=11.18;ReadPosRankSum=0.940;VQSLOD=3.4950;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,72:157:99:1785,0,2188 3 47282303 47282303 G A exonic KIF9 nonsynonymous SNV KIF9:NM_022342:exon16:c.C1717T:p.R573W,KIF9:NM_182902:exon17:c.C1912T:p.R638W,KIF9:NM_001134878:exon18:c.C1912T:p.R638W 0.56 0.51 0.55 0.54 0.6 0.62 0.5723 0.5191 0.5241 0.5433 0.6163 0.5839 0.5793 0.5897 0.56 0.52 0.59 0.54 0.65 rs2276853 COSM149379 1(stomach) . . . . . . . . . . . 0.031 0.546 D 0.995 0.764 D 0.785 0.557 P 0.000 0.629 D 0.909 0.328 P 2.295 0.656 M 0.57 0.544 T -4.69 0.797 D 0.213 0.536 -0.892 0.488 T 0.000 0.000 T . . . 6.724 0.919 32 0.999 0.970 0.594 0.306 D c 0.179 0.095 0.177 0.178 0.554 0.283 0 1.97 0.252 0.429 0.210 1.043 0.663 0.031 0.203 0.985 0.512 9.232 0.364 . ENSG00000114650.14|ENSG00000114650.14|ENSG00000160796.12|ENSG00000160796.12|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000114650.14 Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.5722 0.5248 0.5192 0.5271 0.5438 0.6237 0.5885 0.5775 0.5865 0.5733 0.5237 0.4904 0.4967 0.5385 0.6263 0.5973 0.6102 het 1297.19 106 3 47282303 . G A 1297.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.908;DP=106;Dels=0.00;FS=4.087;HRun=0;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;MQRankSum=1.037;QD=12.24;ReadPosRankSum=-1.328;VQSLOD=5.8265;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,51:106:99:1327,0,1379 3 47449058 47449058 T C exonic PTPN23 synonymous SNV PTPN23:NM_001304482:exon11:c.T609C:p.T203T,PTPN23:NM_015466:exon12:c.T987C:p.T329T 0.95 0.84 0.98 1. 1. 1. 0.9863 0.8567 0.9928 1 1 0.9987 0.9923 1 0.95 0.85 1. 0.85 0.9 rs900688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9889 0.8527 0.9931 0.9911 1 1 0.9990 0.9922 0.9999 0.9584 0.8548 0.9928 0.9901 1 1 0.9993 0.9959 hom 6609.12 197 3 47449058 . T C 6609.12 Mask AC=2;AF=1.00;AN=2;DP=197;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5661;MQ=58.98;MQ0=0;QD=33.55;VQSLOD=9.4853;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:6609,512,0 3 47452087 47452087 G A exonic PTPN23 synonymous SNV PTPN23:NM_001304482:exon19:c.G2421A:p.P807P,PTPN23:NM_015466:exon20:c.G2799A:p.P933P 0.95 0.84 0.98 1. 1. 1. 0.9867 0.8604 0.9935 1 1 0.9987 0.9921 1 0.95 0.86 1. 0.033 1. rs900689 COSM4158089 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9892 0.8566 0.9933 0.9911 1 1 0.9990 0.9921 0.9999 0.9600 0.8595 0.9928 0.99 1 1 0.9994 0.9959 hom 2121.63 78 3 47452087 . G A 2121.63 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=27.20;VQSLOD=7.5031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2155,157,0 3 47452118 47452118 G A exonic PTPN23 nonsynonymous SNV PTPN23:NM_001304482:exon19:c.G2452A:p.A818T,PTPN23:NM_015466:exon20:c.G2830A:p.A944T 0.35 0.25 0.32 0.4 0.38 0.39 0.3708 0.2722 0.2225 0.3804 0.3734 0.3979 0.375 0.4197 0.35 0.26 0.39 . 0.36 rs6780013 COSM3760134 1(thyroid);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.313 0.144 N 1 0.090 P -0.77 0.017 N 4.31 0.024 T 0.29 0.042 N 0.022 0.005 -0.972 0.367 T 0.000 0.000 T . . . -0.951 0.034 0.020 0.696 0.087 0.010 0.036 N c -1.588 -1.609 1.000 0.500 0.732 0.924 0 -5.83 0.021 -1.215 0.031 0.121 0.210 0.000 0.063 0.018 0.130 5.811 0.176 . ENSG00000114650.14|ENSG00000271161.1|ENSG00000271161.1|ENSG00000163832.11|ENSG00000160799.7|ENSG00000114650.14|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000114650.14 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Whole_Blood 0.3627 0.2557 0.2377 0.3999 0.3814 0.3577 0.3946 0.3692 0.4183 0.3439 0.2631 0.3005 0.42 0.3756 0.3590 0.3834 0.3642 het 762.10 65 3 47452118 . G A 762.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.137;DP=65;Dels=0.00;FS=5.384;HRun=0;HaplotypeScore=4.3892;MQ=58.36;MQ0=0;MQRankSum=1.231;QD=11.72;ReadPosRankSum=-0.249;VQSLOD=5.0112;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,34:65:99:792,0,701 3 47452786 47452786 G A exonic PTPN23 synonymous SNV PTPN23:NM_001304482:exon19:c.G3120A:p.E1040E,PTPN23:NM_015466:exon20:c.G3498A:p.E1166E 0.46 0.24 0.52 0.46 0.6 0.56 0.5413 0.2822 0.5005 0.4671 0.6270 0.5899 0.5562 0.5370 0.49 0.28 0.59 0.46 0.54 rs1531875 COSM1423596 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5432 0.2751 0.4977 0.5293 0.4659 0.6299 0.5914 0.5597 0.5361 0.5033 0.2811 0.4819 0.4934 0.4622 0.6315 0.6030 0.5888 het 538.13 42 3 47452786 . G A 538.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.685;DP=42;Dels=0.00;FS=4.980;HRun=1;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;MQRankSum=-0.075;QD=12.81;ReadPosRankSum=-0.805;VQSLOD=6.1156;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,21:42:99:568,0,554 3 47454399 47454399 G A exonic PTPN23 synonymous SNV PTPN23:NM_001304482:exon24:c.G4257A:p.P1419P,PTPN23:NM_015466:exon25:c.G4635A:p.P1545P 0.95 0.84 0.98 1. 1. 1. 0.9872 0.8662 0.9929 0.9995 0.9989 0.9987 0.9926 0.9995 0.95 0.87 1. 0.89 0.16 rs6789730 COSM4158090 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9602 0.8293 0.9350 0.9679 0.9223 0.9961 0.9798 0.9528 0.9714 0.9077 0.8071 0.9365 0.9458 0.9812 0.9173 0.9510 0.9412 hom 263.34 12 3 47454399 . G A 263.34 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=21.95;VQSLOD=5.8940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:12:27.05:296,27,0 3 47459679 47459679 C T exonic SCAP nonsynonymous SNV SCAP:NM_001320044:exon13:c.G1627A:p.V543I,SCAP:NM_012235:exon16:c.G2392A:p.V798I 0.45 0.23 0.52 0.46 0.59 0.55 0.6294 0.3993 0.6631 0.6263 0.7408 0.6740 0.6243 0.5583 0.47 0.27 0.57 0.25 0.3 rs12487736 COSM3760135 2(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.005 0.135 B 0.003 0.121 B 0.000 0.843 D 0.023 0.399 P -1.445 0.006 N 1.61 0.284 T 0.28 0.042 N 0.069 0.075 -0.903 0.477 T 0.000 0.000 T . . . 1.238 0.214 11.95 0.812 0.131 0.381 0.257 N c -0.630 -0.418 1.000 0.747 0.672 0.522 0 3.62 0.405 3.215 0.506 0.778 0.314 1.000 0.715 0.413 0.256 3.958 0.088 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000114650.14|ENSG00000114650.14|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000271161.1|ENSG00000160796.12|ENSG00000271161.1|ENSG00000163832.11|ENSG00000163832.11|ENSG00000114650.14|ENSG00000114650.14|ENSG00000160796.12|ENSG00000076201.10|ENSG00000160796.12|ENSG00000114650.14 Brain_Anterior_cingulate_cortex_BA24|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Whole_Blood 0.5432 0.2820 0.5013 0.5071 0.4810 0.6255 0.5924 0.5504 0.5282 0.4869 0.2646 0.4714 0.4733 0.4609 0.6181 0.5836 0.5741 het 110.33 12 3 47459679 . C T 110.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.244;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=-0.244;QD=9.19;ReadPosRankSum=0.689;VQSLOD=5.6829;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,5:12:99:140,0,180 3 47462200 47462200 T C exonic SCAP synonymous SNV SCAP:NM_001320044:exon9:c.A642G:p.G214G,SCAP:NM_012235:exon12:c.A1407G:p.G469G 0.96 0.84 0.98 1. 1. 1. 0.9867 0.8599 0.9935 1 1 0.9987 0.9922 1 0.95 0.86 1. 0.89 0.93 rs900690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9892 0.8565 0.9933 0.9910 1 1 0.9990 0.9921 0.9999 0.9593 0.8581 0.9928 0.9901 1 1 0.9993 0.9959 hom 2245.09 71 3 47462200 . T C 2245.09 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=59.08;MQ0=0;QD=31.62;VQSLOD=8.6572;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2278,178,0 3 47618953 47618953 C A exonic CSPG5 nonsynonymous SNV CSPG5:NM_001206942:exon2:c.G149T:p.G50V,CSPG5:NM_001206943:exon2:c.G563T:p.G188V,CSPG5:NM_001206944:exon2:c.G563T:p.G188V,CSPG5:NM_001206945:exon2:c.G149T:p.G50V,CSPG5:NM_006574:exon2:c.G563T:p.G188V 0.52 0.36 0.48 0.6 0.66 0.54 0.5948 0.3999 0.3484 0.5957 0.7527 0.6648 0.6267 0.5396 0.57 0.39 0.66 0.54 0.66 rs3732530 . . . . . . . . . . . . . 0.236 0.179 T 0.028 0.184 B 0.012 0.149 B 0.250 0.155 N 0.014 0.403 P 0.805 0.203 L 0.93 0.441 T 0.77 0.087 N 0.081 0.219 -0.980 0.350 T 0.000 0.000 T . . . 2.323 0.340 18.32 0.862 0.158 0.126 0.172 N c -0.713 -0.629 1.000 0.409 0.652 0.477 0 0.844 0.180 0.232 0.175 0.768 0.311 0.061 0.216 0.997 0.653 2.953 0.055 Chondroitin sulphate attachment ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000047849.17|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.5916 0.4011 0.3688 0.5734 0.5905 0.7473 0.6697 0.5972 0.5389 0.5995 0.4041 0.4089 0.6067 0.6091 0.7609 0.6801 0.6791 het 938.63 78 3 47618953 . C A 938.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.001;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5226;MQ=59.11;MQ0=0;MQRankSum=-0.436;QD=12.03;ReadPosRankSum=0.509;VQSLOD=6.5938;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,37:78:99:969,0,1026 3 47956424 47956424 C T exonic MAP4 nonsynonymous SNV MAP4:NM_001134364:exon8:c.G1882A:p.V628I,MAP4:NM_002375:exon8:c.G1882A:p.V628I 0.39 0.56 0.4 0.28 0.3 0.35 0.3338 0.5244 0.3779 0.2847 0.2090 0.3068 0.3051 0.3689 0.39 0.53 0.31 0.36 0.29 rs1137524 COSM4828009;COSM4828010 1(cervix) . . . . . . . . . . . 0.181 0.219 T 0.137 0.351 B 0.017 0.220 B . . . 1 0.090 P 1.15 0.294 L 3.1 0.101 T -0.52 0.162 N 0.039 0.019 -0.956 0.399 T 0.000 0.000 T . . . 0.381 0.131 6.444 0.930 0.220 0.044 0.099 N c -1.085 -1.183 0.041 0.145 0.707 0.730 0 0.416 0.156 -0.077 0.113 -1.963 0.005 0.021 0.196 0.025 0.141 1.698 0.027 . ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000114646.5|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000047849.17|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000228638.1|ENSG00000047849.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3300 0.5218 0.3781 0.3819 0.2904 0.2133 0.3026 0.3415 0.3696 0.3440 0.5181 0.3711 0.3367 0.2537 0.1921 0.2910 0.2781 het 2037.36 185 3 47956424 . C T 2037.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.327;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9092;MQ=58.68;MQ0=0;MQRankSum=1.170;QD=11.01;ReadPosRankSum=0.806;VQSLOD=6.2697;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,79:185:99:2067,0,2701 3 47958037 47958037 G T exonic MAP4 nonsynonymous SNV MAP4:NM_001134364:exon7:c.C1280A:p.S427Y,MAP4:NM_002375:exon7:c.C1280A:p.S427Y 0.25 0.12 0.35 0.26 0.3 0.31 0.2897 0.1263 0.3562 0.2647 0.2090 0.3034 0.2737 0.3371 0.25 0.13 0.31 0.18 0.29 rs1060407 COSM4158103;COSM4158102 1(thyroid) . . . . . . . . . . . 0.001 0.784 D 0.867 0.457 P 0.374 0.419 B . . . 1 0.444 P 2.36 0.681 M 3.12 0.087 T -2.97 0.618 D 0.095 0.098 -0.903 0.477 T 0.000 0.000 T . . . 3.661 0.497 23.2 0.837 0.144 0.451 0.272 N c -0.273 -0.351 0.999 0.388 0.707 0.730 0 4.09 0.469 1.889 0.391 1.048 0.713 0.205 0.241 0.092 0.186 14.621 0.680 . ENSG00000229759.1|ENSG00000114648.7|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000228638.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000047849.17|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000232112.3|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000199476.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229453.1|ENSG00000047849.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2940 0.1213 0.3545 0.3591 0.2679 0.2131 0.3004 0.3155 0.3394 0.2294 0.1247 0.3461 0.3245 0.2323 0.1919 0.2886 0.2561 het 2151.74 189 3 47958037 . G T 2151.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.143;DP=189;Dels=0.00;FS=3.350;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=1.840;QD=11.38;ReadPosRankSum=-0.619;VQSLOD=5.9333;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,85:189:99:2182,0,2832 3 48309828 48309828 C G exonic ZNF589 nonsynonymous SNV ZNF589:NM_016089:exon4:c.C647G:p.T216R 0.26 0.33 0.22 0.12 0.29 0.27 0.2685 0.3380 0.1389 0.1196 0.1987 0.2986 0.2434 0.3032 0.31 0.32 0.31 0.23 0.31 rs11718329 COSM4002717 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.773 0.033 T 0.268 0.300 B 0.034 0.212 B . . . 1 0.189 P -0.55 0.024 N 3.32 0.062 T 0.54 0.028 N 0.027 0.009 -0.926 0.447 T 0.000 0.000 T . . . -0.957 0.034 0.019 0.789 0.121 0.011 0.039 N c -1.805 -1.910 1.000 0.747 0.672 0.522 0 -2.69 0.056 -0.451 0.068 -0.982 0.023 0.000 0.063 0.001 0.043 0.105 0.000 . ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000172113.4|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229453.1|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000232112.3|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000232112.3|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229453.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000177479.15|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000047849.17|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229453.1|ENSG00000228638.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2638 0.3339 0.1544 0.3908 0.1208 0.1971 0.2990 0.2757 0.3066 0.2692 0.3328 0.1826 0.3609 0.1083 0.1947 0.2723 0.2316 het 1768.96 127 3 48309828 . C G 1768.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.477;DP=127;Dels=0.00;FS=2.616;HRun=1;HaplotypeScore=5.3442;MQ=59.52;MQ0=0;MQRankSum=-0.407;QD=13.93;ReadPosRankSum=0.962;VQSLOD=4.7432;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,64:127:99:1799,0,1721 3 48360992 48360992 T G exonic SPINK8 nonsynonymous SNV SPINK8:NM_001080525:exon3:c.A234C:p.K78N 0.17 0.032 0.18 0.12 0.28 0.28 0.2411 0.0627 0.1189 0.1214 0.1979 0.2913 0.2178 0.3102 0.23 0.06 0.3 0.12 . rs11718350 . . . . . . . . . . . . . 0.227 0.185 T 0.818 0.437 P 0.305 0.395 B . . . 1.000 0.090 P . . . -0.91 0.750 T -1.09 0.283 N 0.039 0.019 -1.083 0.067 T 0.000 0.000 T . . . 2.905 0.410 21.9 0.987 0.448 0.022 0.064 N c -0.459 -0.573 0.996 0.346 0.487 0.133 0 2.39 0.284 0.261 0.181 1.049 0.752 0.001 0.137 0.939 0.413 6.984 0.237 Kazal domain ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000228638.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000213672.3|ENSG00000228638.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000172113.4|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229453.1|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000232112.3|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000232112.3|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229759.1|ENSG00000228638.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229453.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000228638.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164045.7|ENSG00000172113.4|ENSG00000228638.1|ENSG00000047849.17|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000229759.1|ENSG00000164048.9|ENSG00000172113.4|ENSG00000229453.1|ENSG00000228638.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2392 0.0586 0.1347 0.3319 0.1225 0.1958 0.2931 0.2536 0.3123 0.1891 0.0606 0.1639 0.3179 0.1097 0.1944 0.2682 0.2178 het 914.77 66 3 48360992 . T G 914.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.522;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.30;MQ0=0;MQRankSum=0.792;QD=13.86;ReadPosRankSum=2.209;VQSLOD=5.9901;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,30:66:99:945,0,940 3 48419897 48419897 C T exonic FBXW12 nonsynonymous SNV FBXW12:NM_001159929:exon5:c.C439T:p.R147W,FBXW12:NM_207102:exon6:c.C496T:p.R166W 0.62 0.6 0.62 0.66 0.53 0.69 0.5907 0.6033 0.6389 0.6604 0.6045 0.5476 0.6278 0.6786 0.55 0.6 0.53 0.67 0.48 rs6442117 COSM4999203 2(pancreas) . . . . . . . . . . . 0.025 0.473 D 0.616 0.379 P 0.011 0.145 B 0.000 0.004 N 1 0.090 P 0 0.065 N 1.51 0.634 T -0.95 0.273 N 0.073 0.114 -0.944 0.421 T 0.000 0.000 T . . . -0.402 0.061 0.383 0.810 0.130 0.002 0.010 N c -1.913 -2.062 1.000 0.443 0.554 0.246 0 -8.47 0.008 -2.410 0.011 -3.120 0.001 0.000 0.063 0.000 0.016 0.454 0.005 Quinoprotein amine dehydrogenase\x2c beta chain-like|WD40/YVTN repeat-like-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000229759.1|ENSG00000164045.7|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000232112.3|ENSG00000232112.3|ENSG00000229759.1|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000244380.1|ENSG00000229759.1|ENSG00000244380.1|ENSG00000229759.1|ENSG00000232112.3|ENSG00000229759.1|ENSG00000244380.1|ENSG00000229759.1|ENSG00000232112.3|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164054.11|ENSG00000164053.13|ENSG00000164050.8|ENSG00000229759.1|ENSG00000164049.10|ENSG00000229759.1|ENSG00000164048.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid 0.5905 0.6048 0.6260 0.5284 0.6618 0.6094 0.5454 0.5861 0.6750 0.5823 0.6015 0.6175 0.5563 0.7010 0.5982 0.5527 0.5885 het 1221.58 86 3 48419897 . C T 1221.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.790;DP=86;Dels=0.00;FS=10.547;HRun=1;HaplotypeScore=2.4703;MQ=58.41;MQ0=0;MQRankSum=0.303;QD=14.20;ReadPosRankSum=0.285;VQSLOD=4.3274;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,45:86:99:1252,0,1023 3 48422235 48422235 T A exonic FBXW12 nonsynonymous SNV FBXW12:NM_001159927:exon7:c.T608A:p.V203D,FBXW12:NM_001159929:exon7:c.T761A:p.V254D,FBXW12:NM_207102:exon8:c.T818A:p.V273D 0.35 0.3 0.37 0.34 0.47 0.31 0.4037 0.3276 0.3597 0.3401 0.3972 0.4526 0.3700 0.3229 0.43 0.33 0.47 0.28 0.52 rs6784322 COSM4002718 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.235 0.180 T 0.039 0.197 B 0.048 0.236 B 0.108 0.026 N 1 0.090 P -0.345 0.033 N 2.05 0.629 T -0.42 0.142 N 0.067 0.074 -1.051 0.141 T 0.000 0.000 T . . . -0.827 0.039 0.037 0.526 0.047 0.006 0.028 N c -1.767 -1.815 0.723 0.229 0.487 0.133 0 -6.75 0.016 -0.974 0.039 -2.189 0.004 0.000 0.063 0.000 0.016 2.717 0.048 Quinoprotein amine dehydrogenase\x2c beta chain-like|WD40/YVTN repeat-like-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain ENSG00000229759.1|ENSG00000164045.7|ENSG00000211535.1|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164048.9|ENSG00000232112.3|ENSG00000232112.3|ENSG00000172113.4|ENSG00000229759.1|ENSG00000164048.9|ENSG00000244380.1|ENSG00000229759.1|ENSG00000244380.1|ENSG00000229759.1|ENSG00000232112.3|ENSG00000229759.1|ENSG00000244380.1|ENSG00000229759.1|ENSG00000232112.3|ENSG00000229759.1|ENSG00000164048.9|ENSG00000164048.9|ENSG00000229759.1|ENSG00000229759.1|ENSG00000164054.11|ENSG00000164053.13|ENSG00000164050.8|ENSG00000229759.1|ENSG00000164049.10|ENSG00000229759.1|ENSG00000164048.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid 0.4047 0.3236 0.3715 0.4715 0.3372 0.3910 0.4544 0.4104 0.3262 0.3969 0.3241 0.3789 0.4437 0.3009 0.4022 0.4476 0.4102 het 1024.93 115 3 48422235 . T A 1024.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.631;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9524;MQ=59.15;MQ0=0;MQRankSum=0.408;QD=8.91;ReadPosRankSum=0.482;VQSLOD=6.3640;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,46:115:99:1055,0,1823 3 48461313 48461313 C G exonic PLXNB1 synonymous SNV PLXNB1:NM_001130082:exon11:c.G2382C:p.P794P,PLXNB1:NM_002673:exon11:c.G2382C:p.P794P 0.43 0.64 0.34 0.31 0.47 0.31 0.4673 0.6488 0.3051 0.3602 0.4536 0.4875 0.4675 0.3851 0.52 0.62 0.48 0.36 0.39 rs2362450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4101 0.6227 0.2530 0.5208 0.3121 0.3950 0.4598 0.4285 0.3328 0.4777 0.6165 0.2837 0.4633 0.2761 0.4021 0.4513 0.4211 het 391.12 29 3 48461313 . C G 391.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DP=29;Dels=0.00;FS=3.696;HRun=2;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=0.458;QD=13.49;ReadPosRankSum=0.196;VQSLOD=6.1693;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:421,0,379 3 48474249 48474249 A G exonic CCDC51 synonymous SNV CCDC51:NM_001256964:exon4:c.T805C:p.L269L,CCDC51:NM_001256965:exon4:c.T478C:p.L160L,CCDC51:NM_001256966:exon4:c.T478C:p.L160L,CCDC51:NM_001256967:exon4:c.T478C:p.L160L,CCDC51:NM_001256968:exon4:c.T478C:p.L160L,CCDC51:NM_001256969:exon4:c.T478C:p.L160L,CCDC51:NM_024661:exon4:c.T805C:p.L269L 0.32 0.24 0.29 0.31 0.46 0.31 0.3817 0.2773 0.2029 0.3117 0.3976 0.4507 0.3567 0.3218 0.4 0.27 0.47 0.27 0.52 rs2279077 COSM4002721 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3783 0.2735 0.2264 0.4702 0.3090 0.3917 0.4523 0.3937 0.3250 0.3787 0.2772 0.2488 0.4437 0.2754 0.4023 0.4479 0.4008 het 2202.35 151 3 48474249 . A G 2202.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.131;DP=151;Dels=0.00;FS=2.071;HRun=1;HaplotypeScore=3.6647;MQ=59.17;MQ0=0;MQRankSum=-0.827;QD=14.59;ReadPosRankSum=1.331;VQSLOD=5.6716;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,75:151:99:2232,0,1913 3 48476431 48476431 C G exonic CCDC51 synonymous SNV CCDC51:NM_001256964:exon2:c.G108C:p.L36L,CCDC51:NM_024661:exon2:c.G108C:p.L36L 0.99 0.96 0.99 1. 1. 1. 0.9972 0.9684 0.9982 0.9999 1 1.0000 0.9978 0.9999 0.99 0.97 1. 0.98 0.87 rs13062723 COSM4158109 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9690 0.9988 1 0.9999 1 0.9999 0.9987 0.9999 0.9910 0.9686 0.9964 1 1 1 0.9999 0.9990 hom 1648.03 52 3 48476431 . C G 1648.03 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=31.69;VQSLOD=8.7041;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1681,135,0 3 48508585 48508585 C T exonic TREX1 synonymous SNV TREX1:NM_016381:exon1:c.C696T:p.Y232Y,TREX1:NM_007248:exon2:c.C501T:p.Y167Y,TREX1:NM_033629:exon2:c.C531T:p.Y177Y 0.31 0.24 0.29 0.31 0.44 0.3 0.3706 0.2723 0.1993 0.3080 0.3896 0.4352 0.3485 0.3176 0.39 0.27 0.45 0.27 0.48 rs11797 COSM4002723 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign|Benign not_specified|Vasculopathy\x2c_retinal\x2c_with_cerebral_leukodystrophy|Aicardi_Goutieres_syndrome RCV000082324.7|RCV000341237.1|RCV000405847.1 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT CN169374|C1860518:192315|C0393591:ORPHA51:230312006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3673 0.2691 0.2201 0.4532 0.3045 0.3825 0.4367 0.3802 0.3210 0.3693 0.2720 0.2410 0.4305 0.2732 0.3910 0.4361 0.3847 het 1519.18 104 3 48508585 . C T 1519.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.820;DP=104;Dels=0.00;FS=9.574;HRun=0;HaplotypeScore=1.7998;MQ=60.00;MQ0=0;MQRankSum=0.501;QD=14.61;ReadPosRankSum=-1.011;VQSLOD=4.4310;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,58:104:99:1549,0,1265 3 48625266 48625266 T C exonic COL7A1 synonymous SNV COL7A1:NM_000094:exon21:c.A2817G:p.P939P 0.68 0.94 0.59 0.39 0.72 0.65 0.6799 0.9049 0.5915 0.3799 0.7256 0.7020 0.6896 0.6490 0.77 0.9 0.71 0.67 0.64 rs1264194 COSM446657 1(thyroid) Benign|Benign not_specified|Dystrophic_epidermolysis_bullosa RCV000243500.1|RCV000408231.1 MedGen|MedGen:SNOMED_CT CN169374|C0079294:254185007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6741 0.9074 0.5873 0.8219 0.3775 0.7303 0.6950 0.6924 0.6524 0.7408 0.9026 0.6086 0.7947 0.3558 0.7227 0.7018 0.6889 hom 1398.78 45 3 48625266 . T C 1398.78 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=31.08;VQSLOD=9.4570;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1432,123,0 3 48628014 48628014 G A exonic COL7A1 nonsynonymous SNV COL7A1:NM_000094:exon14:c.C1784T:p.P595L 0.099 0.03 0.073 0.036 0.12 0.25 0.1192 0.0491 0.0758 0.0255 0.1084 0.1276 0.1468 0.2113 0.1 0.054 0.13 0.054 0.098 rs2228561 COSM4158116 1(pancreas);1(thyroid) Benign|Benign not_specified|Dystrophic_epidermolysis_bullosa RCV000252599.1|RCV000366293.1 MedGen|MedGen:SNOMED_CT CN169374|C0079294:254185007 . . . . . . 0.412 0.101 T 0.0 0.026 B 0.0 0.013 B 0.170 0.174 N 1.000 0.090 P 1.445 0.365 L -2.27 0.874 D -0.49 0.156 N 0.052 0.034 -1.048 0.149 T 0.006 0.019 T . . . 0.154 0.109 4.185 0.472 0.038 0.066 0.125 N c -1.339 -1.386 1.000 0.747 0.706 0.609 0 -2.98 0.051 -0.742 0.049 -0.758 0.034 0.000 0.063 0.171 0.210 3.713 0.079 Fibronectin type III ENSG00000164053.13|ENSG00000178252.13|ENSG00000213672.3|ENSG00000213672.3|ENSG00000178252.13|ENSG00000213672.3|ENSG00000178252.13|ENSG00000213672.3|ENSG00000164053.13|ENSG00000213672.3|ENSG00000232112.3|ENSG00000164053.13|ENSG00000213672.3|ENSG00000178252.13|ENSG00000213672.3|ENSG00000164053.13|ENSG00000213672.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid 0.1174 0.0457 0.0704 0.0972 0.0250 0.1148 0.1312 0.1152 0.2145 0.1052 0.0536 0.0609 0.1159 0.0302 0.1160 0.1423 0.1181 het 1197.32 105 3 48628014 . G A 1197.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.911;DP=105;Dels=0.00;FS=1.586;HRun=0;HaplotypeScore=2.2100;MQ=59.42;MQ0=0;MQRankSum=2.198;QD=11.40;ReadPosRankSum=-0.515;VQSLOD=6.0914;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,45:105:99:1227,0,1617 3 48677895 48677895 A T exonic CELSR3 synonymous SNV CELSR3:NM_001407:exon34:c.T9123A:p.A3041A 0.014 0.0023 0.017 . 0.049 0.0061 0.0327 0.0077 0.0238 0 0.0526 0.0453 0.0279 0.0141 0.03 0.007 0.041 . 0.016 rs1264195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0317 0.0059 0.0266 0.0294 0 0.0465 0.0443 0.0339 0.0129 0.0305 0.0081 0.0274 0.0331 0 0.0487 0.0425 0.0327 het 1266.91 73 3 48677895 . A T 1266.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.181;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8014;MQ=59.74;MQ0=0;MQRankSum=-0.510;QD=17.35;ReadPosRankSum=-0.095;VQSLOD=4.7828;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,43:73:99:1297,0,907 3 48682480 48682480 C A exonic CELSR3 nonsynonymous SNV CELSR3:NM_001407:exon25:c.G7960T:p.A2654S . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.996 0.875 D . . . 1 0.810 D 3.3 0.907 M 1.25 0.365 T -2.77 0.587 D 0.461 0.789 -0.166 0.785 T 0.336 0.703 T 0.074 0.720 D 6.743 0.920 32 0.997 0.833 0.997 0.984 D c 0.907 0.821 1.000 0.747 0.696 0.567 0 5.15 0.702 7.545 0.809 0.807 0.329 1.000 0.715 0.996 0.625 18.621 0.912 GPCR\x2c family 2-like . . . . . . . . . . . . . . . . . . . het 796.84 62 3 48682480 . C A 796.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.698;DP=62;Dels=0.00;FS=4.985;HRun=1;HaplotypeScore=0.0000;MQ=58.82;MQ0=0;MQRankSum=0.134;QD=12.85;ReadPosRankSum=1.092;VQSLOD=3.9208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:827,0,796 3 48727112 48727112 G A exonic IP6K2 synonymous SNV IP6K2:NM_001005909:exon5:c.C639T:p.Y213Y,IP6K2:NM_016291:exon5:c.C639T:p.Y213Y 0.74 0.5 0.74 0.95 0.65 0.93 0.7050 0.5218 0.8487 0.9563 0.6776 0.6356 0.6993 0.8801 0.6 0.52 0.63 0.63 0.7 rs4858798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7152 0.5219 0.8319 0.7028 0.9607 0.6785 0.6322 0.6877 0.8831 0.6285 0.5081 0.7722 0.6987 0.9685 0.6604 0.6424 0.6650 hom 3123.31 98 3 48727112 . G A 3123.31 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.82;MQ0=0;QD=31.87;VQSLOD=9.1611;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3156,253,0 3 49054692 49054692 T C exonic DALRD3 nonsynonymous SNV DALRD3:NM_001009996:exon5:c.A896G:p.Q299R,DALRD3:NM_001276405:exon5:c.A896G:p.Q299R,DALRD3:NM_018114:exon5:c.A395G:p.Q132R 0.91 0.9 0.86 1. 0.79 0.96 0.8278 0.8781 0.9139 0.9999 0.7980 0.7586 0.8139 0.9382 0.8 0.88 0.76 0.88 0.85 rs3087866 COSM5904758;COSM5904759 1(skin) . . . . . . . . . . . 1.0 0.024 T 0.0 0.026 B 0.0 0.013 B 0.027 0.258 N 1 0.090 P -0.145 0.044 N 1.2 0.382 T 0.96 0.022 N 0.105 0.111 -0.955 0.402 T 0.000 0.000 T . . . -0.064 0.088 2.011 0.887 0.176 0.008 0.033 N c -1.133 -1.015 1.000 0.747 0.726 0.872 0 1.87 0.244 0.099 0.149 -2.329 0.003 0.012 0.185 0.327 0.242 8.283 0.309 . ENSG00000229759.1|ENSG00000145029.7|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000235261.1|ENSG00000198218.6|ENSG00000178252.13|ENSG00000145020.10|ENSG00000145029.7|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000235261.1|ENSG00000198218.6|ENSG00000145020.10|ENSG00000229759.1|ENSG00000145029.7|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000235261.1|ENSG00000173421.12|ENSG00000233276.2|ENSG00000213672.3|ENSG00000145020.10|ENSG00000177352.9|ENSG00000145020.10|ENSG00000198218.6|ENSG00000233276.2|ENSG00000178252.13|ENSG00000145020.10|ENSG00000198218.6|ENSG00000233276.2|ENSG00000213672.3|ENSG00000213672.3|ENSG00000145020.10|ENSG00000198218.6|ENSG00000233276.2|ENSG00000178149.12|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000178252.13|ENSG00000185909.10|ENSG00000145020.10|ENSG00000233276.2|ENSG00000178252.13|ENSG00000145020.10|ENSG00000198218.6|ENSG00000145020.10|ENSG00000178252.13|ENSG00000235261.1|ENSG00000198218.6|ENSG00000272434.1|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000198218.6|ENSG00000178252.13|ENSG00000198218.6|ENSG00000178252.13|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000178252.13|ENSG00000235261.1|ENSG00000198218.6|ENSG00000145029.7|ENSG00000145020.10|ENSG00000067560.6|ENSG00000213672.3|ENSG00000178252.13|ENSG00000235261.1|ENSG00000145029.7|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000178252.13|ENSG00000235261.1|ENSG00000177352.9|ENSG00000198218.6|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000178252.13|ENSG00000145020.10|ENSG00000198218.6|ENSG00000145020.10|ENSG00000233276.2|ENSG00000177479.15|ENSG00000145020.10|ENSG00000213672.3|ENSG00000235261.1|ENSG00000185909.10|ENSG00000198218.6|ENSG00000145020.10|ENSG00000198218.6|ENSG00000145020.10|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000198218.6|ENSG00000145029.7|ENSG00000233276.2|ENSG00000178149.12|ENSG00000177479.15|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000235261.1|ENSG00000198218.6|ENSG00000145020.10|ENSG00000235261.1|ENSG00000145020.10|ENSG00000229759.1|ENSG00000145020.10|ENSG00000213672.3|ENSG00000178467.13|ENSG00000178252.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.8328 0.8813 0.9013 0.8746 0.9998 0.8035 0.7537 0.8119 0.9394 0.8142 0.8794 0.8768 0.8467 1 0.7967 0.7572 0.7965 hom 5797.80 179 3 49054692 . T C 5797.80 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;QD=32.39;VQSLOD=9.8804;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5797,463,0 3 49138810 49138810 T C exonic QARS nonsynonymous SNV QARS:NM_001272073:exon10:c.A821G:p.N274S,QARS:NM_005051:exon10:c.A854G:p.N285S 0.016 0.0015 0.02 0.001 0.06 0.0051 0.0391 0.0108 0.0196 0.0003 0.0606 0.0562 0.0565 0.0119 0.043 0.014 0.057 0.022 0.025 rs11539148 . . Benign|Benign not_specified|Microcephaly\x2c_progressive\x2c_with_seizures_and_cerebral_and_cerebellar_atrophy RCV000424979.1|RCV000472019.1 MedGen|MedGen:OMIM CN169374|CN186296:615760 . . . . . . 0.267 0.162 T 0.054 0.212 B 0.172 0.337 B 0.000 0.843 D 1 0.810 D 1.84 0.484 L 2.01 0.213 T -4.4 0.789 D 0.102 0.222 -1.108 0.033 T 0.009 0.034 T . . . 1.716 0.267 14.50 0.983 0.399 0.980 0.785 D c -0.154 -0.015 1.000 0.517 0.707 0.730 0 4.57 0.557 5.759 0.682 0.146 0.234 1.000 0.715 1.000 0.888 11.541 0.497 Aminoacyl-tRNA synthetase\x2c class I\x2c conserved site|Glutamyl/glutaminyl-tRNA synthetase\x2c class Ib\x2c catalytic domain|Rossmann-like alpha/beta/alpha sandwich fold;Glutamyl/glutaminyl-tRNA synthetase\x2c class Ib\x2c catalytic domain|Rossmann-like alpha/beta/alpha sandwich fold . . 0.0400 0.0106 0.0172 0.0505 0.0001 0.0662 0.0581 0.0451 0.0126 0.0472 0.0118 0.0203 0.0530 0 0.0644 0.0698 0.0541 het 1308.71 127 3 49138810 . T C 1308.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.601;DP=127;Dels=0.00;FS=1.437;HRun=0;HaplotypeScore=5.9115;MQ=58.55;MQ0=0;MQRankSum=2.012;QD=10.30;ReadPosRankSum=0.895;VQSLOD=4.3548;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,54:127:99:1339,0,1828 3 49273996 49273996 C T exonic CCDC36 synonymous SNV CCDC36:NM_001135197:exon3:c.C72T:p.S24S,CCDC36:NM_178173:exon5:c.C72T:p.S24S 0.71 0.43 0.71 0.94 0.64 0.9 0.6877 0.4534 0.8341 0.9548 0.6865 0.6216 0.6648 0.8562 0.56 0.45 0.62 0.6 0.52 rs12631989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6960 0.4493 0.8145 0.6731 0.9593 0.6887 0.6147 0.6669 0.8565 0.6035 0.4453 0.7626 0.6623 0.9660 0.6669 0.6270 0.6704 hom 2063.37 71 3 49273996 . C T 2063.37 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.97;MQ0=0;QD=29.06;VQSLOD=8.6886;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2096,160,0 3 49343175 49343175 G A exonic USP4 synonymous SNV USP4:NM_199443:exon8:c.C960T:p.D320D,USP4:NM_003363:exon9:c.C1101T:p.D367D 0.092 0.065 0.098 0.055 0.2 0.053 0.1440 0.0938 0.0824 0.0428 0.2097 0.1851 0.1615 0.0764 0.15 0.097 0.17 0.11 0.16 rs2230929 COSM149389 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1436 0.0898 0.0900 0.2131 0.0389 0.2143 0.1805 0.1656 0.0736 0.1425 0.0950 0.1134 0.2020 0.0304 0.2179 0.1635 0.1663 het 1302.54 104 3 49343175 . G A 1302.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.384;DP=104;Dels=0.00;FS=12.514;HRun=0;HaplotypeScore=1.8928;MQ=59.64;MQ0=0;MQRankSum=1.125;QD=12.52;ReadPosRankSum=-1.027;VQSLOD=4.3019;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,53:104:99:1333,0,1264 3 49362369 49362369 C T exonic USP4 synonymous SNV USP4:NM_001251877:exon5:c.G591A:p.K197K,USP4:NM_003363:exon5:c.G591A:p.K197K,USP4:NM_199443:exon5:c.G591A:p.K197K 0.092 0.065 0.098 0.055 0.2 0.053 0.1433 0.0941 0.0824 0.0426 0.2100 0.1849 0.1619 0.0741 0.15 0.097 0.17 0.11 0.15 rs56038006 COSM149390 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1434 0.0900 0.0906 0.2134 0.0386 0.2149 0.1805 0.1648 0.0740 0.1422 0.0946 0.1124 0.2020 0.0308 0.2178 0.1632 0.1656 het 2878.10 210 3 49362369 . C T 2878.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.652;DP=210;Dels=0.00;FS=4.772;HRun=2;HaplotypeScore=4.2569;MQ=59.54;MQ0=0;MQRankSum=-0.395;QD=13.71;ReadPosRankSum=0.519;VQSLOD=4.8893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,109:210:99:2908,0,2762 3 49455330 49455330 C T exonic AMT synonymous SNV AMT:NM_001164710:exon7:c.G822A:p.R274R,AMT:NM_001164711:exon7:c.G786A:p.R262R,AMT:NM_000481:exon8:c.G954A:p.R318R,AMT:NM_001164712:exon8:c.G954A:p.R318R 0.2 0.21 0.17 0.073 0.34 0.2 0.2748 0.2363 0.1430 0.0599 0.4567 0.3237 0.3119 0.2321 0.29 0.24 0.31 0.21 0.39 rs11715915 COSM4158145 1(thyroid) Benign|Benign not_specified|Non-ketotic_hyperglycinemia RCV000249180.1|RCV000375334.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0751748:605899:ORPHA407:237939006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2774 0.2337 0.1525 0.4590 0.0554 0.4625 0.3125 0.3042 0.2362 0.2826 0.2283 0.1770 0.39 0.0488 0.4475 0.3015 0.3316 het 1136.22 87 3 49455330 . C T 1136.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.189;DP=87;Dels=0.00;FS=2.298;HRun=1;HaplotypeScore=3.6626;MQ=59.47;MQ0=0;MQRankSum=-0.363;QD=13.06;ReadPosRankSum=-0.294;VQSLOD=5.8737;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,43:87:99:1166,0,1232 3 49548008 49548008 C G exonic DAG1 nonsynonymous SNV DAG1:NM_001177639:exon2:c.C41G:p.S14W,DAG1:NM_001177643:exon2:c.C41G:p.S14W,DAG1:NM_001177644:exon2:c.C41G:p.S14W,DAG1:NM_004393:exon2:c.C41G:p.S14W,DAG1:NM_001177635:exon3:c.C41G:p.S14W,DAG1:NM_001177637:exon3:c.C41G:p.S14W,DAG1:NM_001177638:exon3:c.C41G:p.S14W,DAG1:NM_001177640:exon3:c.C41G:p.S14W,DAG1:NM_001177641:exon3:c.C41G:p.S14W,DAG1:NM_001177642:exon3:c.C41G:p.S14W,DAG1:NM_001177636:exon4:c.C41G:p.S14W,DAG1:NM_001165928:exon5:c.C41G:p.S14W,DAG1:NM_001177634:exon5:c.C41G:p.S14W 0.97 0.88 0.99 1. 1. 1. 0.9923 0.9162 0.9959 1 1 0.9999 0.9989 0.9998 0.97 0.92 1. 0.94 0.92 rs2131107 . . not provided\x2cBenign not_provided\x2cnot_specified RCV000024443.1\x2cRCV000214409.1 MedGen\x2cMedGen CN221809\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.289 N 1.000 0.210 P -1.355 0.007 N 0.94 0.441 T -0.09 0.937 N 0.251 0.524 -0.946 0.418 T 0.000 0.000 T . . . 1.785 0.275 14.90 0.163 0.004 0.123 0.170 N c -0.966 -0.709 0.006 0.111 0.707 0.730 0 4.69 0.584 1.729 0.375 0.073 0.181 0.997 0.399 0.276 0.233 10.554 0.441 . . . 0.9939 0.9138 0.9961 1 1 1.0000 0.9998 0.9967 0.9999 0.9751 0.9131 0.9916 1 0.9994 1 0.9997 0.9959 hom 5966.89 172 3 49548008 . C G 5966.89 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.7764;MQ=59.36;MQ0=0;QD=34.69;VQSLOD=8.7367;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5966,460,0 3 49570200 49570200 C T exonic DAG1 synonymous SNV DAG1:NM_001177639:exon3:c.C2256T:p.H752H,DAG1:NM_001177643:exon3:c.C2256T:p.H752H,DAG1:NM_001177644:exon3:c.C2256T:p.H752H,DAG1:NM_004393:exon3:c.C2256T:p.H752H,DAG1:NM_001177635:exon4:c.C2256T:p.H752H,DAG1:NM_001177637:exon4:c.C2256T:p.H752H,DAG1:NM_001177638:exon4:c.C2256T:p.H752H,DAG1:NM_001177640:exon4:c.C2256T:p.H752H,DAG1:NM_001177641:exon4:c.C2256T:p.H752H,DAG1:NM_001177642:exon4:c.C2256T:p.H752H,DAG1:NM_001177636:exon5:c.C2256T:p.H752H,DAG1:NM_001165928:exon6:c.C2256T:p.H752H,DAG1:NM_001177634:exon6:c.C2256T:p.H752H 0.22 0.27 0.17 0.072 0.33 0.2 0.2775 0.2867 0.1444 0.0592 0.4551 0.3212 0.3083 0.2315 0.31 0.29 0.31 0.22 0.39 rs1801143 . . not provided|other not_provided|not_specified RCV000024446.1|RCV000116863.5 MedGen|MedGen CN221809|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2799 0.2865 0.1545 0.4592 0.0548 0.4621 0.3105 0.3062 0.2353 0.2975 0.2839 0.1778 0.3907 0.0496 0.4471 0.2999 0.3313 het 722.30 50 3 49570200 . C T 722.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.336;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.915;QD=14.45;ReadPosRankSum=0.039;VQSLOD=6.7284;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,27:50:99:752,0,699 3 49690199 49690199 G A exonic BSN synonymous SNV BSN:NM_003458:exon5:c.G3210A:p.T1070T 0.91 0.9 0.88 0.99 0.83 0.96 0.8683 0.8798 0.9299 0.9953 0.9032 0.8228 0.8516 0.9448 0.84 0.88 0.82 0.85 0.75 rs4855885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8748 0.8819 0.9177 0.8604 0.9950 0.9088 0.8201 0.8466 0.9463 0.8639 0.8778 0.8902 0.8079 0.9969 0.8991 0.8325 0.8676 hom 2180.80 65 3 49690199 . G A 2180.80 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=33.55;VQSLOD=9.9172;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2214,178,0 3 49701298 49701298 G A exonic BSN nonsynonymous SNV BSN:NM_003458:exon8:c.G11587A:p.A3863T 0.64 0.4 0.68 0.93 0.51 0.76 0.5906 0.4290 0.7815 0.9464 0.4735 0.5160 0.5559 0.7207 0.49 0.43 0.52 0.54 0.42 rs2005557 COSM1179807 1(pancreas);1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.955 0.083 N 1 0.090 P 0 0.065 N 2.25 0.178 T 0.29 0.042 N 0.014 0.002 -0.951 0.408 T 0.000 0.000 T . . . 1.156 0.205 11.52 0.842 0.147 0.009 0.035 N c -1.270 -1.210 1.000 0.480 0.516 0.203 0 1.26 0.204 0.403 0.206 -0.267 0.087 0.007 0.175 0.953 0.430 1.03 0.014 . ENSG00000178252.13|ENSG00000173531.11|ENSG00000173531.11|ENSG00000164062.8|ENSG00000068745.10|ENSG00000213672.3|ENSG00000178252.13|ENSG00000068745.10|ENSG00000173531.11|ENSG00000068745.10|ENSG00000178252.13|ENSG00000173531.11|ENSG00000187492.4|ENSG00000187492.4|ENSG00000173531.11|ENSG00000145020.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.5935 0.4260 0.7603 0.4070 0.9499 0.4690 0.5203 0.5491 0.7170 0.5307 0.4254 0.7117 0.4305 0.9536 0.4753 0.5497 0.5524 het 1044.80 75 3 49701298 . G A 1044.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.710;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=59.75;MQ0=0;MQRankSum=-1.458;QD=13.93;ReadPosRankSum=0.907;VQSLOD=5.8800;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,39:75:99:1075,0,955 3 49701983 49701983 G A exonic BSN synonymous SNV BSN:NM_003458:exon9:c.G11736A:p.T3912T 0.2 0.22 0.17 0.052 0.32 0.2 0.2646 0.2308 0.1384 0.0468 0.4331 0.3070 0.2983 0.2463 0.28 0.24 0.3 0.25 0.38 rs9858542 . . . . . . . Crohn's disease 1.09 . 17554300 rs9858542 4E-8 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2634 0.2284 0.1469 0.4446 0.0435 0.4420 0.2987 0.2867 0.2293 0.2691 0.2280 0.1635 0.3775 0.0408 0.4233 0.2829 0.3071 het 997.92 80 3 49701983 . G A 997.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.107;DP=80;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=2.7069;MQ=59.53;MQ0=0;MQRankSum=-0.473;QD=12.47;ReadPosRankSum=0.955;VQSLOD=6.4777;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,37:80:99:1028,0,1143 3 49714225 49714225 T C exonic APEH synonymous SNV APEH:NM_001640:exon9:c.T852C:p.Y284Y 0.2 0.24 0.17 0.057 0.32 0.2 0.2630 0.2480 0.1402 0.0485 0.4326 0.3069 0.2942 0.2240 0.28 0.25 0.3 0.26 0.39 rs1131095 COSM149391 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2665 0.2467 0.1487 0.4438 0.0449 0.4396 0.2982 0.2907 0.2278 0.2741 0.2461 0.1659 0.3733 0.0407 0.4232 0.2828 0.3082 het 2371.34 172 3 49714225 . T C 2371.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.926;DP=172;Dels=0.00;FS=8.273;HRun=0;HaplotypeScore=7.8260;MQ=59.87;MQ0=0;MQRankSum=0.542;QD=13.79;ReadPosRankSum=0.895;VQSLOD=4.3149;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,88:172:99:2401,0,2221 3 49721532 49721532 G A exonic MST1 nonsynonymous SNV MST1:NM_020998:exon18:c.C2107T:p.R703C 0.19 0.22 0.17 0.057 0.31 0.19 0.2557 0.2306 0.1336 0.0519 0.4090 0.3010 0.2859 0.2174 0.27 0.24 0.29 0.098 0.36 rs3197999 COSM149393 1(stomach);2(soft_tissue);4(prostate);1(upper_aerodigestive_tract) . . . . . Crohn's disease 1.20 . 18587394 rs3197999 1E-12 0.02 0.496 D 0.727 0.405 P 0.338 0.405 B 0.290 0.148 N 0.998 0.225 P 2.26 0.646 M -2.48 0.891 D -2.58 0.556 D 0.17 0.441 -1.025 0.221 T 0.000 0.000 T . . . 5.174 0.698 25.5 0.998 0.861 0.646 0.322 D c -0.293 -0.427 0.833 0.247 0.672 0.522 0 -2.82 0.054 1.118 0.306 0.100 0.199 0.550 0.271 0.942 0.416 12.694 0.562 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000164062.8|ENSG00000004534.10|ENSG00000145029.7|ENSG00000164068.11|ENSG00000145020.10|ENSG00000235261.1|ENSG00000004534.10|ENSG00000145029.7|ENSG00000145020.10|ENSG00000235261.1|ENSG00000004534.10|ENSG00000145029.7|ENSG00000233276.2|ENSG00000145020.10|ENSG00000235261.1|ENSG00000233276.2|ENSG00000233276.2|ENSG00000004534.10|ENSG00000164062.8|ENSG00000164068.11|ENSG00000145020.10|ENSG00000182179.6|ENSG00000164062.8|ENSG00000004534.10|ENSG00000185614.4|ENSG00000178252.13|ENSG00000145029.7|ENSG00000233276.2|ENSG00000145020.10|ENSG00000164068.11|ENSG00000004534.10|ENSG00000145029.7|ENSG00000145020.10|ENSG00000185614.4|ENSG00000173531.11|ENSG00000004534.10|ENSG00000145029.7|ENSG00000164068.11|ENSG00000145020.10|ENSG00000235261.1|ENSG00000173531.11|ENSG00000173531.11|ENSG00000004534.10|ENSG00000173531.11|ENSG00000004534.10|ENSG00000145029.7|ENSG00000164068.11|ENSG00000233276.2|ENSG00000235261.1|ENSG00000004534.10|ENSG00000182179.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2580 0.2284 0.1418 0.4434 0.0451 0.4150 0.2913 0.2843 0.2202 0.2622 0.2266 0.1579 0.3775 0.0414 0.4019 0.2757 0.2951 het 1459 96 3 49721532 . G A 1459 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.554;DP=96;Dels=0.00;FS=3.028;HRun=0;HaplotypeScore=5.9154;MQ=57.72;MQ0=0;MQRankSum=0.330;QD=15.20;ReadPosRankSum=-0.749;VQSLOD=4.3852;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,51:96:99:1489,0,1141 3 49723147 49723147 T C exonic MST1 synonymous SNV MST1:NM_020998:exon11:c.A1269G:p.E423E 0.018 0.0015 0.022 0.001 0.063 0.0072 0.0416 0.0111 0.0203 0.0008 0.0616 0.0580 0.0629 0.0223 0.043 0.014 0.059 . 0.025 rs62262683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0423 0.0108 0.0180 0.0529 0.0002 0.0666 0.0599 0.0484 0.0225 0.0476 0.0115 0.0215 0.0596 0 0.0644 0.0705 0.0552 het 1060.98 92 3 49723147 . T C 1060.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.143;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2184;MQ=56.66;MQ0=2;MQRankSum=1.654;QD=11.53;ReadPosRankSum=0.911;VQSLOD=2.7267;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,40:92:99:1091,0,1268 3 49724808 49724808 T C exonic MST1 synonymous SNV MST1:NM_020998:exon4:c.A459G:p.P153P 0.86 0.71 0.86 0.99 0.83 0.96 0.8574 0.7281 0.9234 0.9910 0.9040 0.8225 0.8451 0.9446 0.79 0.73 0.82 . 0.83 rs3020779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8639 0.7279 0.9115 0.8509 0.9931 0.9087 0.8190 0.8426 0.945 0.8201 0.7258 0.8819 0.8079 0.9963 0.8986 0.8320 0.8599 hom 2891.10 91 3 49724808 . T C 2891.10 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8614;MQ=50.55;MQ0=0;QD=31.77;VQSLOD=3.6252;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,90:91:99:2924,241,0 3 49737954 49737954 G A exonic RNF123 nonsynonymous SNV RNF123:NM_022064:exon14:c.G1160A:p.R387Q 0.022 0.0068 0.026 0.006 0.072 0.0072 0.0497 0.0091 0.0316 0.0021 0.0910 0.0697 0.0508 0.0153 0.043 0.0098 0.061 0.022 0.041 rs35620248 . . . . . . . . . . . . . 0.19 0.211 T 0.999 0.764 D 0.978 0.725 D 0.001 0.437 D 0.999 0.480 D 0.975 0.246 L -0.63 0.751 T -0.41 0.140 N 0.383 0.443 -0.697 0.606 T 0.063 0.261 T . . . 5.703 0.778 26.8 0.999 0.938 0.980 0.785 D c 0.667 0.713 1.000 0.747 0.707 0.730 0 5.4 0.779 7.355 0.785 0.953 0.551 1.000 0.715 0.992 0.562 18.147 0.895 . ENSG00000173531.11|ENSG00000173531.11|ENSG00000164062.8|ENSG00000173531.11|ENSG00000164062.8|ENSG00000185614.4|ENSG00000173531.11|ENSG00000173531.11|ENSG00000164062.8|ENSG00000173531.11|ENSG00000164062.8|ENSG00000173531.11 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0507 0.0087 0.0369 0.0886 0.0021 0.0895 0.0661 0.0625 0.0155 0.0416 0.0102 0.0477 0.0795 0.0025 0.0844 0.0522 0.0560 het 2753.22 179 3 49737954 . G A 2753.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.622;DP=179;Dels=0.00;FS=4.398;HRun=0;HaplotypeScore=2.5769;MQ=58.72;MQ0=0;MQRankSum=-0.211;QD=15.38;ReadPosRankSum=0.439;VQSLOD=5.2225;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,99:179:99:2783,0,1976 3 49738945 49738945 C T exonic RNF123 synonymous SNV RNF123:NM_022064:exon16:c.C1299T:p.V433V 0.24 0.21 0.2 0.15 0.31 0.32 0.2684 0.2127 0.1774 0.1764 0.2455 0.3014 0.2738 0.2913 0.27 0.21 0.3 0.21 0.35 rs6804655 COSM4002726 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2617 0.2105 0.1778 0.2366 0.1712 0.2470 0.3048 0.2719 0.2902 0.2713 0.2153 0.1758 0.2682 0.1638 0.2501 0.3252 0.2822 het 2058.01 141 3 49738945 . C T 2058.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.621;DP=141;Dels=0.00;FS=1.342;HRun=1;HaplotypeScore=3.3999;MQ=59.46;MQ0=1;MQRankSum=-0.063;QD=14.60;ReadPosRankSum=-0.193;VQSLOD=6.4148;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,78:141:99:2088,0,1560 3 49742584 49742584 G A exonic RNF123 synonymous SNV RNF123:NM_022064:exon23:c.G2127A:p.T709T 0.0044 0.0008 0.0014 . 0.015 0.0051 0.0227 0.0038 0.0097 0.0004 0.0707 0.0306 0.0289 0.0115 0.012 0.0027 0.016 . 0.016 rs34539806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0158 0.0027 0.0079 0.0345 0.0001 0.0363 0.0189 0.0142 0.0085 0.0151 0.0041 0.0107 0.0464 0 0.0427 0.0161 0.0173 het 62.29 21 3 49742584 . G A 62.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.537;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=58.89;MQ0=0;MQRankSum=0.206;QD=2.97;ReadPosRankSum=-0.372;VQSLOD=3.7026;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,5:21:92.28:92,0,472 3 49751585 49751585 C T exonic RNF123 synonymous SNV RNF123:NM_022064:exon31:c.C2988T:p.D996D 0.25 0.25 0.21 0.15 0.31 0.32 0.2712 0.2496 0.1793 0.1766 0.2456 0.3005 0.2765 0.2907 0.28 0.25 0.3 0.22 0.35 rs2291542 COSM1424005 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2648 0.2516 0.1802 0.2366 0.1723 0.2469 0.3051 0.2747 0.2897 0.2829 0.2557 0.1790 0.2682 0.1648 0.2503 0.3252 0.2848 het 1488.21 149 3 49751585 . C T 1488.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.383;DP=149;Dels=0.00;FS=7.074;HRun=0;HaplotypeScore=9.8966;MQ=59.44;MQ0=0;MQRankSum=0.787;QD=9.99;ReadPosRankSum=-0.218;VQSLOD=3.8323;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,61:149:99:1518,0,2064 3 49760039 49760039 T C exonic GMPPB nonsynonymous SNV GMPPB:NM_013334:exon5:c.A551G:p.Q184R,GMPPB:NM_021971:exon5:c.A551G:p.Q184R 0.99 0.96 0.99 1. 1. 1. 0.9967 0.9654 0.9980 0.9999 1 0.9999 0.9956 0.9999 0.99 0.97 1. 0.96 1. rs1466685 . . . . . . . . . . . . . 0.071 0.351 T 0.0 0.026 B 0.001 0.040 B 0.595 0.110 N 1.000 0.588 P -0.49 0.026 N -3.29 0.937 D -1.0 0.264 N 0.038 0.058 -0.902 0.478 T 0.000 0.000 T . . . 0.422 0.135 6.799 0.821 0.135 0.106 0.159 N c -1.253 -1.174 1.000 0.747 0.722 0.854 0 -2.63 0.057 -0.893 0.042 -1.763 0.007 0.000 0.063 0.913 0.390 13.805 0.626 Nucleotide-diphospho-sugar transferases|Nucleotidyl transferase domain . . 0.9972 0.9635 0.9975 1 0.9999 1 0.9998 0.9982 0.9998 0.9889 0.9620 0.9952 1 1 1 0.9997 0.9949 hom 2442.53 84 3 49760039 . T C 2442.53 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2905;MQ=58.70;MQ0=0;QD=29.08;VQSLOD=8.5131;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2476,199,0 3 49898273 49898273 A G exonic CAMKV synonymous SNV CAMKV:NM_001320147:exon8:c.T651C:p.N217N,CAMKV:NM_024046:exon8:c.T651C:p.N217N 0.4 0.69 0.37 0.14 0.49 0.21 0.4081 0.6407 0.2647 0.1501 0.3817 0.4754 0.4394 0.2337 0.54 0.63 0.5 0.43 0.46 rs2681781 COSM4158163;COSM4158162 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3992 0.6461 0.2852 0.3445 0.1489 0.3898 0.4890 0.4282 0.2339 0.4961 0.6350 0.3237 0.4238 0.1454 0.3733 0.4978 0.4255 het 2657.38 186 3 49898273 . A G 2657.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.997;DP=186;DS;Dels=0.00;FS=5.406;HRun=2;HaplotypeScore=5.3428;MQ=59.54;MQ0=0;MQRankSum=1.029;QD=14.29;ReadPosRankSum=0.581;VQSLOD=4.8570;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,97:186:99:2687,0,2416 3 49924940 49924940 T C exonic MST1R nonsynonymous SNV MST1R:NM_001318913:exon18:c.A3685G:p.R1229G,MST1R:NM_001244937:exon19:c.A3856G:p.R1286G,MST1R:NM_002447:exon20:c.A4003G:p.R1335G 0.42 0.74 0.38 0.14 0.5 0.21 0.4180 0.6816 0.2676 0.1515 0.3856 0.4860 0.4360 0.2334 0.56 0.67 0.51 0.52 0.5 rs1062633 COSM3736321;COSM3736322 1(skin) . . . . . . . . . . . 0.51 0.077 T 0.0 0.026 B 0.0 0.013 B 0.274 0.151 N 1 0.090 P 0.895 0.225 L -1.68 0.829 D 0.39 0.035 N 0.015 0.049 -0.969 0.374 T 0.000 0.000 T . . . -1.266 0.023 0.005 0.163 0.004 0.014 0.047 N c -1.433 -1.484 0.984 0.306 0.615 0.372 0 -4.24 0.035 -3.169 0.006 -0.767 0.034 0.000 0.063 0.000 0.016 4.163 0.097 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain;Protein kinase domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000004534.10|ENSG00000164068.11|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000228008.1|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164068.11|ENSG00000185614.4|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000182179.6|ENSG00000004534.10|ENSG00000004534.10|ENSG00000185614.4|ENSG00000182179.6|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000164068.11|ENSG00000263506.1|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000230698.1|ENSG00000234667.1|ENSG00000004534.10|ENSG00000185614.4|ENSG00000164078.8|ENSG00000234667.1|ENSG00000004534.10|ENSG00000164078.8|ENSG00000228008.1|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164076.12|ENSG00000264706.1|ENSG00000164077.9|ENSG00000004534.10|ENSG00000164068.11|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000182179.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.4081 0.6876 0.2888 0.4039 0.1473 0.3922 0.4964 0.4379 0.2331 0.5150 0.6804 0.3282 0.4603 0.1433 0.3751 0.5080 0.4406 het 1615.42 111 3 49924940 . T C 1615.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.151;DP=111;Dels=0.00;FS=4.792;HRun=1;HaplotypeScore=1.9402;MQ=60.00;MQ0=0;MQRankSum=-1.518;QD=14.55;ReadPosRankSum=-1.465;VQSLOD=4.9183;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,60:111:99:1645,0,1518 3 49928691 49928691 T C exonic MST1R nonsynonymous SNV MST1R:NM_001318913:exon15:c.A3265G:p.S1089G,MST1R:NM_001244937:exon16:c.A3436G:p.S1146G,MST1R:NM_002447:exon17:c.A3583G:p.S1195G 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 0.9999 . . . 1. 1. rs7433231 COSM4590310;COSM4590311 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 0.9999 1 1 1 1 1.0000 1.0000 0.9999 1 1 1 1 1 1 hom 3973.97 130 3 49928691 . T C 3973.97 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4587;MQ=58.50;MQ0=0;QD=30.57;VQSLOD=8.4839;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3973,328,0 3 49936102 49936102 T C exonic MST1R nonsynonymous SNV MST1R:NM_001318913:exon2:c.A1250G:p.Q417R,MST1R:NM_001244937:exon4:c.A1568G:p.Q523R,MST1R:NM_002447:exon4:c.A1568G:p.Q523R 0.42 0.74 0.38 0.14 0.5 0.21 0.4172 0.6738 0.2672 0.1489 0.3857 0.4861 0.4371 0.2342 0.56 0.67 0.51 0.51 0.48 rs2230590 COSM3736323;COSM3736324 1(pancreas);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.080 B 0.108 0.196 N 1 0.090 P 0.125 0.086 N 1.05 0.400 T 0.48 0.039 N 0.015 0.004 -0.975 0.361 T 0.000 0.000 T . . . -3.309 0.001 0.001 0.447 0.034 0.017 0.053 N c -1.967 -2.001 1.000 0.747 0.554 0.283 0 -6.78 0.016 -0.968 0.039 -2.481 0.003 0.000 0.063 0.078 0.180 7.547 0.268 Sema domain;WD40/YVTN repeat-like-containing domain ENSG00000004534.10|ENSG00000164068.11|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000228008.1|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164068.11|ENSG00000185614.4|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000182179.6|ENSG00000004534.10|ENSG00000004534.10|ENSG00000185614.4|ENSG00000182179.6|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000164068.11|ENSG00000263506.1|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000230698.1|ENSG00000234667.1|ENSG00000004534.10|ENSG00000185614.4|ENSG00000164078.8|ENSG00000234667.1|ENSG00000004534.10|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000004534.10|ENSG00000182179.6|ENSG00000004534.10|ENSG00000164076.12|ENSG00000264706.1|ENSG00000164077.9|ENSG00000004534.10|ENSG00000164068.11|ENSG00000164078.8|ENSG00000004534.10|ENSG00000004534.10|ENSG00000182179.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.4073 0.6789 0.2883 0.4036 0.1466 0.3924 0.4961 0.4380 0.2331 0.5134 0.6738 0.3282 0.4603 0.1436 0.3758 0.5082 0.4408 het 811.46 74 3 49936102 . T C 811.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.772;DP=74;Dels=0.00;FS=10.895;HRun=0;HaplotypeScore=10.2005;MQ=59.38;MQ0=0;MQRankSum=-1.059;QD=10.97;ReadPosRankSum=-1.014;VQSLOD=2.5504;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,34:74:99:841,0,1163 3 49946812 49946812 G A exonic MON1A synonymous SNV MON1A:NM_001142501:exon4:c.C1206T:p.Y402Y,MON1A:NM_032355:exon5:c.C1692T:p.Y564Y 0.063 0.11 0.045 0.02 0.075 0.044 0.0651 0.1081 0.0390 0.0288 0.0642 0.0700 0.0841 0.0549 0.088 0.11 0.077 0.098 0.057 rs61729114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0641 0.1080 0.0349 0.0683 0.0283 0.0690 0.0732 0.0686 0.0552 0.0826 0.1052 0.0430 0.0728 0.0290 0.0647 0.0822 0.0755 het 954.15 109 3 49946812 . G A 954.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.000;DP=109;Dels=0.00;FS=7.836;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=0.797;QD=8.75;ReadPosRankSum=1.212;VQSLOD=3.6862;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,43:109:99:984,0,1784 3 50114515 50114515 C T exonic RBM6 synonymous SNV RBM6:NM_001167582:exon17:c.C1755T:p.Y585Y,RBM6:NM_001349194:exon18:c.C1779T:p.Y593Y,RBM6:NM_001349190:exon19:c.C1755T:p.Y585Y,RBM6:NM_001349191:exon20:c.C1755T:p.Y585Y,RBM6:NM_005777:exon21:c.C3321T:p.Y1107Y,RBM6:NM_001349193:exon22:c.C1755T:p.Y585Y,RBM6:NM_001349192:exon23:c.C1755T:p.Y585Y 0.75 0.75 0.69 0.88 0.57 0.83 0.6715 0.7270 0.7850 0.8839 0.6139 0.5833 0.6501 0.8256 0.62 0.72 0.57 0.71 0.52 rs7061 COSM4158172 1(breast);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6742 0.7290 0.7617 0.7342 0.8838 0.6168 0.5736 0.6412 0.8272 0.6458 0.7281 0.7392 0.6533 0.8872 0.6203 0.5736 0.6273 hom 1911.19 65 3 50114515 . C T 1911.19 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7465;MQ=60.00;MQ0=0;QD=29.40;VQSLOD=8.4416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1944,153,0 3 50144951 50144951 T C exonic RBM5 synonymous SNV RBM5:NM_005778:exon12:c.T990C:p.A330A 0.75 0.75 0.69 0.88 0.57 0.83 0.6715 0.7268 0.7852 0.8847 0.6142 0.5833 0.6498 0.8261 0.62 0.72 0.57 0.71 0.56 rs1061474 COSM4158173 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6742 0.7286 0.7614 0.7336 0.8841 0.6167 0.5737 0.6413 0.8273 0.6458 0.7282 0.7416 0.6556 0.8881 0.6207 0.5729 0.6288 hom 4956.50 162 3 50144951 . T C 4956.50 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.711;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.34;MQ0=0;MQRankSum=-1.194;QD=30.60;ReadPosRankSum=0.742;VQSLOD=8.3587;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,161:162:99:4956,376,0 3 50153356 50153356 T C exonic RBM5 synonymous SNV RBM5:NM_005778:exon22:c.T2037C:p.Y679Y 0.75 0.75 0.69 0.88 0.57 0.83 0.6718 0.7269 0.7854 0.8847 0.6148 0.5836 0.6501 0.8265 0.62 0.72 0.57 0.71 0.56 rs1138536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6744 0.7287 0.7617 0.7337 0.8841 0.6170 0.5739 0.6411 0.8275 0.6455 0.7282 0.7399 0.6556 0.8886 0.6203 0.5728 0.6273 hom 4385.43 138 3 50153356 . T C 4385.43 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=59.46;MQ0=0;QD=31.78;VQSLOD=9.8481;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4385,340,0 3 50197097 50197097 C T exonic SEMA3F synonymous SNV SEMA3F:NM_001318800:exon2:c.C42T:p.T14T,SEMA3F:NM_004186:exon2:c.C42T:p.T14T 0.38 0.32 0.3 0.19 0.4 0.67 0.4228 0.3350 0.2680 0.1931 0.4542 0.4277 0.4092 0.6735 0.38 0.33 0.41 0.28 0.39 rs1046953 COSM4002730 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4127 0.3298 0.2661 0.4109 0.1866 0.4505 0.4238 0.3982 0.6730 0.3749 0.3258 0.2608 0.4172 0.1700 0.4593 0.4086 0.4180 het 999.93 62 3 50197097 . C T 999.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.126;DP=62;Dels=0.00;FS=2.290;HRun=0;HaplotypeScore=3.3471;MQ=59.63;MQ0=0;MQRankSum=-0.581;QD=16.13;ReadPosRankSum=-1.052;VQSLOD=5.0252;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,40:62:99:1030,0,513 3 50222926 50222926 T A exonic SEMA3F nonsynonymous SNV SEMA3F:NM_001318798:exon13:c.T1210A:p.L404M,SEMA3F:NM_001318800:exon13:c.T1414A:p.L472M,SEMA3F:NM_004186:exon14:c.T1507A:p.L503M 0.77 0.59 0.75 0.99 0.67 0.89 0.7380 0.6071 0.8420 0.9944 0.7552 0.6707 0.7271 0.8781 0.63 0.6 0.65 0.65 0.7 rs1046956 COSM3760153 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.73 0.043 T 0.002 0.154 B 0.004 0.149 B 0.013 0.288 N 1.000 0.090 P -0.26 0.038 N 2.8 0.111 T 0.56 0.027 N 0.039 0.032 -0.968 0.377 T 0.000 0.000 T . . . 0.333 0.126 6.012 0.094 0.001 0.292 0.235 N c -1.365 -1.165 1.000 0.422 0.707 0.730 0 0.291 0.149 1.123 0.307 -0.540 0.048 0.660 0.280 0.961 0.442 3.531 0.073 Sema domain|WD40/YVTN repeat-like-containing domain ENSG00000004534.10|ENSG00000186792.11|ENSG00000004534.10|ENSG00000004534.10|ENSG00000186792.11|ENSG00000164068.11|ENSG00000164078.8|ENSG00000004534.10|ENSG00000186792.11|ENSG00000145022.4|ENSG00000004534.10|ENSG00000004534.10|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000004534.10|ENSG00000004534.10|ENSG00000186792.11|ENSG00000004534.10|ENSG00000004534.10|ENSG00000234667.1|ENSG00000004534.10|ENSG00000243477.1|ENSG00000004534.10|ENSG00000004534.10|ENSG00000188338.10|ENSG00000004534.10|ENSG00000012171.13|ENSG00000186792.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.7415 0.6013 0.8178 0.6872 0.9938 0.7486 0.6656 0.7111 0.8785 0.6815 0.6051 0.7866 0.6678 0.9957 0.7530 0.6664 0.7234 hom 1475.65 44 3 50222926 . T A 1475.65 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;QD=33.54;VQSLOD=9.0955;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1509,123,0 3 50332697 50332697 G A exonic HYAL3 nonsynonymous SNV HYAL3:NM_001200029:exon2:c.C337T:p.H113Y,HYAL3:NM_001200030:exon2:c.C337T:p.H113Y,HYAL3:NM_003549:exon2:c.C337T:p.H113Y 0.24 0.13 0.35 0.085 0.46 0.26 0.3689 0.1521 0.2868 0.0966 0.4228 0.4738 0.3819 0.2599 0.38 0.17 0.48 0.24 0.34 rs13100173 COSM3760155 1(urinary_tract);7(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.291 0.234 T 0.534 0.359 P 0.15 0.325 B 0.403 0.045 U 1 0.090 P 1.01 0.254 L 1.97 0.221 T -1.03 0.305 N 0.029 0.313 -0.916 0.461 T 0.000 0.000 T . . . 0.636 0.155 8.401 0.835 0.142 0.122 0.169 N c -0.685 -0.724 0.986 0.309 0.554 0.283 0 1.65 0.229 0.447 0.213 0.124 0.212 0.006 0.172 0.368 0.249 8.069 0.297 Aldolase-type TIM barrel|Glycoside hydrolase superfamily ENSG00000243477.1|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000164068.11|ENSG00000243477.1|ENSG00000186792.11|ENSG00000243477.1|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000243477.1|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000243477.1|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000188338.10|ENSG00000186792.11|ENSG00000186792.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.3707 0.1485 0.3037 0.4226 0.0920 0.4258 0.4787 0.3979 0.2579 0.3508 0.1615 0.3067 0.52 0.0699 0.4267 0.4695 0.4012 het 1712.12 135 3 50332697 . G A 1712.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.165;DP=135;Dels=0.00;FS=12.664;HRun=0;HaplotypeScore=2.7227;MQ=59.83;MQ0=0;MQRankSum=-1.696;QD=12.68;ReadPosRankSum=-2.424;VQSLOD=2.7738;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,63:135:99:1742,0,1976 3 50357869 50357869 A C exonic HYAL2 nonsynonymous SNV HYAL2:NM_003773:exon2:c.T52G:p.S18A,HYAL2:NM_033158:exon3:c.T52G:p.S18A 0.74 0.93 0.82 0.79 0.65 0.45 0.6796 0.8928 0.8509 0.7665 0.6342 0.6504 0.6549 0.4555 0.73 0.88 0.64 0.85 0.48 rs709210 COSM1162360 2(urinary_tract);1(pancreas);1(liver);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.394 N 1 0.090 P -0.995 0.012 N 2.62 0.280 T 0.27 0.070 N 0.199 0.244 -0.950 0.410 T 0.000 0.000 T . . . -1.149 0.027 0.008 0.563 0.054 0.004 0.021 N c -1.167 -0.984 1.000 0.517 0.628 0.401 0 3.74 0.419 0.007 0.130 -0.327 0.075 0.002 0.151 0.871 0.364 5.350 0.152 . ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000164068.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000186792.11|ENSG00000243477.1|ENSG00000186792.11|ENSG00000004534.10|ENSG00000186792.11|ENSG00000186792.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Whole_Blood 0.6742 0.8948 0.8514 0.6503 0.7694 0.6276 0.6457 0.6673 0.4239 0.7208 0.8940 0.8556 0.6921 0.7732 0.6327 0.6334 0.6350 het 505.22 29 3 50357869 . A C 505.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.296;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9717;MQ=60.00;MQ0=0;MQRankSum=-0.148;QD=17.42;ReadPosRankSum=1.377;VQSLOD=5.4328;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,20:29:99:535,0,209 3 50597092 50597092 G A exonic C3orf18 nonsynonymous SNV C3orf18:NM_001171740:exon5:c.C485T:p.A162V,C3orf18:NM_001171741:exon5:c.C485T:p.A162V,C3orf18:NM_001171743:exon5:c.C425T:p.A142V,C3orf18:NM_016210:exon6:c.C485T:p.A162V 0.83 0.64 0.84 0.94 0.88 0.92 0.8753 0.7059 0.9200 0.9301 0.875 0.8761 0.8635 0.9164 0.81 0.69 0.87 0.75 0.65 rs1034405 . . . . . . . . . . . . . 0.0 0.912 D 0.998 0.899 D 0.857 0.875 P 0.000 0.843 D 0.000 0.588 P 1.975 0.537 M 0.91 0.576 T -0.58 0.187 N 0.191 0.603 -1.053 0.135 T 0.000 0.000 T . . . 6.852 0.928 33 0.999 0.957 0.982 0.803 D c 0.419 0.393 1.000 0.747 0.706 0.609 0 5.06 0.677 6.514 0.735 1.048 0.713 1.000 0.715 0.666 0.302 16.217 0.820 . ENSG00000114735.5|ENSG00000114735.5|ENSG00000114735.5|ENSG00000114735.5|ENSG00000114735.5|ENSG00000114735.5|ENSG00000114735.5|ENSG00000088543.10|ENSG00000114735.5|ENSG00000114378.12|ENSG00000114735.5|ENSG00000088538.12|ENSG00000114735.5|ENSG00000273356.1|ENSG00000007402.7|ENSG00000145050.11 Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.8766 0.6727 0.9123 0.9325 0.9308 0.8695 0.8667 0.8833 0.9135 0.8138 0.6804 0.8998 0.9272 0.9266 0.8715 0.8560 0.8554 hom 456.09 18 3 50597092 . G A 456.09 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.56;MQ0=0;QD=25.34;VQSLOD=7.4034;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:36.12:489,36,0 3 50609624 50609624 T G exonic HEMK1 synonymous SNV HEMK1:NM_001317851:exon4:c.T399G:p.P133P,HEMK1:NM_016173:exon4:c.T399G:p.P133P 0.76 0.76 0.63 0.59 0.88 0.89 0.8070 0.7645 0.5392 0.6033 0.8480 0.8590 0.8382 0.8954 0.83 0.77 0.86 0.74 0.75 rs2232248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7954 0.7580 0.5423 0.9112 0.5951 0.8498 0.8575 0.8242 0.8959 0.7976 0.7470 0.5562 0.9073 0.5879 0.8477 0.8473 0.8272 hom 1845.46 61 3 50609624 . T G 1845.46 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=30.25;VQSLOD=8.9773;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:61:99:1878,147,0 3 51895693 51895693 G A exonic IQCF2 nonsynonymous SNV IQCF2:NM_203424:exon1:c.G11A:p.R4Q 0.02 0.0015 0.037 . 0.068 0.0061 0.0481 0.0111 0.0234 0.0001 0.0587 0.0716 0.0497 0.0151 0.051 0.013 0.07 0.011 0.057 rs114750576 . . . . . . . . . . . . . 0.085 0.327 T 0.01 0.144 B 0.002 0.063 B 0.060 0.021 N 1 0.090 N 1.01 0.254 L 1.49 0.315 T -0.03 0.075 N 0.039 0.072 -1.057 0.125 T 0.003 0.008 T . . . 0.100 0.103 3.606 0.899 0.186 0.004 0.020 N c -1.558 -1.662 1.000 0.747 0.487 0.133 0 -8.26 0.009 -3.379 0.005 -1.706 0.008 0.000 0.063 0.049 0.163 3.630 0.076 . ENSG00000168268.6|ENSG00000168268.6 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.0479 0.0107 0.0280 0.0530 0.0001 0.0616 0.0721 0.0503 0.0151 0.0456 0.0116 0.0298 0.0733 0 0.0601 0.0673 0.0458 het 800.41 77 3 51895693 . G A 800.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.473;DP=77;Dels=0.00;FS=5.884;HRun=1;HaplotypeScore=2.9895;MQ=59.03;MQ0=0;MQRankSum=0.578;QD=10.39;ReadPosRankSum=-0.036;VQSLOD=5.0072;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,35:77:99:830,0,1038 3 51978220 51978220 A G exonic PARP3 nonsynonymous SNV PARP3:NM_001003931:exon3:c.A320G:p.H107R,PARP3:NM_005485:exon3:c.A299G:p.H100R 1. 1. 1. 1. 0.99 1. 0.9927 0.9979 0.9963 1 0.9944 0.9900 0.9922 0.9934 0.99 1. 0.99 1. 0.92 rs28547534 COSM4158190;COSM4158189 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9930 0.9979 0.9974 0.9983 0.9999 0.9952 0.9892 0.9934 0.9926 0.9937 0.9977 0.9928 1 1 0.9946 0.9907 0.9908 hom 8430.93 248 3 51978220 . A G 8430.93 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7214;MQ=59.30;MQ0=0;QD=34.00;VQSLOD=8.6722;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8430,674,0 3 51990315 51990315 A G exonic GPR62 nonsynonymous SNV GPR62:NM_080865:exon1:c.A647G:p.H216R 1. 1. 1. 1. 0.99 1. 0.9954 0.9984 0.9986 0.9999 0.9979 0.9928 0.9936 0.9979 0.99 1. 0.99 0.076 0.31 rs28651222 COSM4158191 3(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.325 N 0.989 0.244 P -1.975 0.002 N 4.14 0.029 T 3.23 0.001 N 0.061 0.045 -0.999 0.302 T 0.000 0.000 T . . . -0.474 0.057 0.255 0.715 0.094 0.023 0.065 N c -0.945 -0.664 1.000 0.747 0.437 0.062 0 4.59 0.561 5.081 0.640 0.062 0.168 1.000 0.715 0.326 0.242 10.110 0.415 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9957 0.9987 0.9987 0.9989 0.9999 0.9980 0.9925 0.9965 0.9973 0.9958 0.9983 0.9939 1 1 0.9974 0.9938 0.9939 hom 421.26 16 3 51990315 . A G 421.26 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.63;MQ0=0;QD=26.33;VQSLOD=6.9640;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.09:454,39,0 3 52027853 52027853 - CCTTGG exonic RPL29 nonframeshift insertion RPL29:NM_000992:exon4:c.391_392insCCAAGG:p.K130_D131insAK 0.2 0.018 0.23 0.26 0.3 0.27 0.2474 0.0520 0.1715 0.2298 0.2549 0.2859 0.2372 0.2592 0.19 0.075 0.26 . . rs777865129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2444 0.0528 0.1795 0.2984 0.2463 0.2333 0.2867 0.2438 0.2389 0.2457 0.0662 0.2254 0.3741 0.2758 0.2913 0.3294 0.3320 het 618.75 64 3 52027853 . T TCCTTGG 618.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.181;DP=64;FS=14.678;HRun=0;HaplotypeScore=340.9128;MQ=48.79;MQ0=0;MQRankSum=-0.757;QD=8.71;ReadPosRankSum=-0.666;set=variant2 GT:AD:DP:GQ:PL 0/1:57,11:64:99:658,0,1598 3 52237970 52237970 C T exonic ALAS1 synonymous SNV ALAS1:NM_001304443:exon4:c.C519T:p.I173I,ALAS1:NM_199166:exon4:c.C519T:p.I173I,ALAS1:NM_000688:exon5:c.C519T:p.I173I,ALAS1:NM_001304444:exon5:c.C570T:p.I190I 0.4 0.26 0.49 0.39 0.53 0.39 0.4812 0.3081 0.5145 0.3805 0.4914 0.5387 0.4934 0.3822 0.47 0.33 0.55 0.46 0.48 rs352168 COSM4002738 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4852 0.3047 0.5239 0.5454 0.3714 0.4982 0.5363 0.4908 0.3804 0.4517 0.3021 0.4856 0.5033 0.3517 0.4757 0.5395 0.4756 het 1560.66 131 3 52237970 . C T 1560.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.698;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7264;MQ=58.88;MQ0=0;MQRankSum=-1.730;QD=11.91;ReadPosRankSum=0.986;VQSLOD=5.0820;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,60:131:99:1591,0,1933 3 52256697 52256697 C T exonic TLR9 synonymous SNV TLR9:NM_017442:exon2:c.G1635A:p.P545P 0.42 0.29 0.5 0.39 0.55 0.42 0.4921 0.3316 0.5169 0.3796 0.4821 0.5472 0.5033 0.4156 0.48 0.35 0.55 0.49 0.52 rs352140 COSM4158193 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4953 0.3342 0.5261 0.5535 0.3721 0.4915 0.5446 0.4980 0.4165 0.4580 0.3295 0.4952 0.5331 0.3496 0.4567 0.5402 0.4745 het 1332.31 97 3 52256697 . C T 1332.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.363;DP=97;Dels=0.00;FS=0.768;HRun=0;HaplotypeScore=2.8300;MQ=58.90;MQ0=0;MQRankSum=0.169;QD=13.74;ReadPosRankSum=-1.085;VQSLOD=6.3256;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,49:97:99:1362,0,1128 3 52365225 52365225 C T exonic DNAH1 synonymous SNV DNAH1:NM_015512:exon7:c.C933T:p.D311D 0.0008 . 0.0029 . 0.002 . 0.0049 0.0010 0.0066 0.0004 0.0018 0.0072 0.006 0.0006 0.0041 0.0007 0.0057 . . rs199505182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0034 0.0008 0.0042 0.0001 0.0002 0.0007 0.0057 0.0028 0.0005 0.0031 0.0016 0.0036 0 0.0006 0 0.0050 0.0020 het 112.22 18 3 52365225 . C T 112.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.281;DP=18;Dels=0.00;FS=2.251;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.591;QD=6.23;ReadPosRankSum=1.281;VQSLOD=3.0194;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:142,0,331 3 52407041 52407041 C T exonic DNAH1 synonymous SNV DNAH1:NM_015512:exon44:c.C6957T:p.H2319H 0.2 0.013 0.27 0.18 0.35 0.28 0.2896 0.0551 0.2441 0.1727 0.3555 0.3465 0.3265 0.2614 0.24 0.062 0.33 0.14 . rs1546737 COSM4158204;COSM4158203 1(thyroid) Benign not_specified RCV000455531.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2880 0.0510 0.2508 0.3731 0.1689 0.3635 0.3351 0.2990 0.2597 0.2452 0.0577 0.2685 0.3609 0.1556 0.3176 0.3405 0.2939 het 897.22 57 3 52407041 . C T 897.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.074;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=59.19;MQ0=0;MQRankSum=0.233;QD=15.74;ReadPosRankSum=-0.426;VQSLOD=6.4095;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,32:57:99:927,0,500 3 52430698 52430698 A G exonic DNAH1 nonsynonymous SNV DNAH1:NM_015512:exon72:c.A11495G:p.H3832R 1. 0.99 1. 1. 1. 1. 0.9986 0.9846 0.9995 1 1 0.9998 0.9989 0.9999 1. 0.99 1. 0.98 . rs365048 . . Benign not_specified RCV000454486.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9832 0.9994 0.9999 1 1.0000 0.9999 0.9996 1.0000 0.9951 0.9829 1 1 1 0.9997 0.9999 1 hom 5655.22 190 3 52430698 . A G 5655.22 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7355;MQ=58.72;MQ0=0;QD=29.76;VQSLOD=6.9094;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5654,475,0 3 52453893 52453893 C T exonic PHF7 synonymous SNV PHF7:NM_001278221:exon5:c.C231T:p.G77G,PHF7:NM_001321126:exon5:c.C231T:p.G77G,PHF7:NM_001321127:exon5:c.C231T:p.G77G,PHF7:NM_016483:exon5:c.C231T:p.G77G 0.97 0.99 0.94 0.98 0.94 0.98 0.9632 0.9841 0.9718 0.9814 0.9696 0.9520 0.9530 0.9785 0.96 0.98 0.95 0.97 0.86 rs498778 . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 1.296 0.220 12.25 0.646 0.073 0.092 0.148 N c -0.228 -0.200 0.105 0.165 0.554 0.246 0 0.502 0.161 0.041 0.137 0.090 0.195 0.998 0.411 0.988 0.529 0.846 0.011 . ENSG00000010327.6|ENSG00000010322.11|ENSG00000168268.6 Lung|Thyroid|Whole_Blood 0.9626 0.9857 0.9664 0.9709 0.9822 0.9675 0.9492 0.9525 0.9803 0.9679 0.9879 0.9617 0.9603 0.9809 0.9674 0.9558 0.9622 hom 712.49 27 3 52453893 . C T 712.49 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.39;VQSLOD=13.3882;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:57.18:745,57,0 3 52469628 52469628 C T exonic SEMA3G synonymous SNV SEMA3G:NM_020163:exon16:c.G2340A:p.E780E 0.014 0.003 0.014 . 0.05 0.0051 0.0387 0.0088 0.0180 0 0.0628 0.0555 0.0482 0.0116 0.035 0.011 0.048 0.011 0.041 rs61729091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0383 0.0078 0.0212 0.0509 0.0001 0.0646 0.0545 0.0440 0.0110 0.0384 0.0108 0.0298 0.0662 0 0.0630 0.0519 0.0542 het 1336.49 117 3 52469628 . C T 1336.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.238;DP=117;Dels=0.00;FS=0.729;HRun=1;HaplotypeScore=3.7224;MQ=57.50;MQ0=0;MQRankSum=-1.142;QD=11.42;ReadPosRankSum=-0.726;VQSLOD=3.5556;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,53:117:99:1366,0,1804 3 52476246 52476246 G A exonic SEMA3G synonymous SNV SEMA3G:NM_020163:exon4:c.C414T:p.A138A 0.0098 0.0008 0.01 . 0.036 0.0051 0.0279 0.0061 0.0105 0 0.0627 0.0395 0.0391 0.0085 0.028 0.0079 0.038 0.011 0.033 rs34900551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0284 0.0049 0.0133 0.0214 5.806e-05 0.0594 0.0404 0.0289 0.0090 0.0302 0.0068 0.0191 0.0298 0 0.0590 0.0405 0.0388 het 512.81 38 3 52476246 . G A 512.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.915;DP=38;Dels=0.00;FS=1.541;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.073;QD=13.50;ReadPosRankSum=-0.161;VQSLOD=5.8344;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:543,0,519 3 52492707 52492707 T C exonic NISCH synonymous SNV NISCH:NM_001276293:exon3:c.T207C:p.N69N,NISCH:NM_001276294:exon3:c.T207C:p.N69N,NISCH:NM_007184:exon3:c.T207C:p.N69N 0.96 0.96 0.93 0.98 0.93 0.96 0.9535 0.9549 0.9679 0.9815 0.9682 0.9448 0.9492 0.9575 0.95 0.96 0.94 0.95 0.9 rs1541495 COSM5021398;COSM5021399 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9538 0.9567 0.9611 0.9691 0.9813 0.9657 0.9417 0.9461 0.9608 0.9550 0.9563 0.9582 0.9603 0.9797 0.9656 0.9488 0.9542 hom 1918.44 63 3 52492707 . T C 1918.44 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=30.45;VQSLOD=8.9888;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1951,147,0 3 52510592 52510592 G A exonic NISCH nonsynonymous SNV NISCH:NM_001276293:exon8:c.G895A:p.V299I,NISCH:NM_001276294:exon8:c.G895A:p.V299I,NISCH:NM_007184:exon8:c.G895A:p.V299I 0.99 1. 0.99 1. 0.98 1. 0.9859 0.9966 0.9936 1 0.9867 0.9787 0.9769 0.9952 0.98 1. 0.98 0.99 0.99 rs9856575 COSM4158216;COSM4158217 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.001 0.112 B 0.0 0.040 B 0.000 0.843 N 1.000 0.090 P -1.65 0.004 N 0.7 0.515 T 0.93 0.016 N 0.085 0.174 -0.963 0.386 T 0.000 0.000 T . . . 0.676 0.158 8.668 0.439 0.033 0.175 0.197 N c -1.009 -0.709 1.000 0.489 0.707 0.730 0 3.2 0.357 5.743 0.681 -0.110 0.115 1.000 0.715 0.961 0.442 6.274 0.201 Leucine-rich repeat domain\x2c L domain-like . . 0.9861 0.9975 0.9918 0.9894 1 0.9860 0.9778 0.9854 0.9953 0.9880 0.9961 0.9928 0.9868 1 0.9842 0.9832 0.9786 hom 3015.62 105 3 52510592 . G A 3015.62 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.78;MQ0=0;QD=28.72;VQSLOD=8.6572;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3049,238,0 3 52540773 52540773 T C exonic STAB1 synonymous SNV STAB1:NM_015136:exon18:c.T1896C:p.G632G 0.64 0.86 0.43 0.54 0.47 0.76 0.5426 0.8255 0.3954 0.5577 0.4795 0.4765 0.4977 0.7491 0.59 0.82 0.48 0.65 0.55 rs1010553 COSM4417980 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5262 0.8293 0.3886 0.5033 0.5581 0.4576 0.4764 0.5198 0.7455 0.5808 0.8204 0.4175 0.5132 0.5750 0.4874 0.4779 0.5215 het 1493.20 99 3 52540773 . T C 1493.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.453;DP=99;Dels=0.00;FS=9.810;HRun=0;HaplotypeScore=2.4968;MQ=59.34;MQ0=0;MQRankSum=-0.946;QD=15.08;ReadPosRankSum=0.337;VQSLOD=4.4533;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,54:99:99:1523,0,1024 3 52544470 52544470 A G exonic STAB1 nonsynonymous SNV STAB1:NM_015136:exon25:c.A2734G:p.M912V 0.99 1. 0.99 1. 0.97 0.99 0.9839 0.9964 0.9931 1 0.9854 0.9764 0.9731 0.9910 0.98 1. 0.98 0.98 0.99 rs9835659 . . . . . . . . . . . . . 0.324 0.134 T 0.0 0.026 B 0.0 0.013 B 0.119 0.027 N 1 0.090 P -0.345 0.033 N -1.79 0.838 D 0.01 0.069 N 0.027 0.009 -0.959 0.394 T 0.000 0.000 T . . . -2.107 0.007 0.001 0.324 0.019 0.058 0.116 N c -1.731 -1.741 0.542 0.213 0.707 0.730 0 -5.18 0.026 0.559 0.230 -1.916 0.006 0.000 0.063 0.004 0.083 12.820 0.569 EGF-like domain . . 0.9842 0.9973 0.9912 0.9856 1 0.9841 0.9759 0.9823 0.9910 0.9863 0.9956 0.9940 0.9834 0.9994 0.9822 0.9807 0.9756 hom 2562.65 79 3 52544470 . A G 2562.65 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4476;MQ=59.45;MQ0=0;QD=32.44;VQSLOD=9.5351;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2596,217,0 3 52554304 52554304 G C exonic STAB1 nonsynonymous SNV STAB1:NM_015136:exon52:c.G5497C:p.A1833P 0.98 1. 0.98 1. 0.96 0.97 0.9600 0.9887 0.9843 1 0.9682 0.9453 0.9667 0.9593 0.96 0.99 0.94 0.99 0.93 rs7630214 . . . . . . . . . . . . . 0.236 0.179 T 0.0 0.026 B 0.0 0.013 B 0.050 0.231 N 1 0.090 P -0.35 0.031 N -2.79 0.910 D 1.15 0.012 N 0.03 0.011 -0.943 0.421 T 0.000 0.000 T . . . 0.951 0.185 10.38 0.923 0.211 0.005 0.024 N c -0.848 -0.699 1.000 0.480 0.672 0.522 0 5.15 0.702 0.057 0.140 0.067 0.174 0.000 0.063 0.248 0.227 14.392 0.664 FAS1 domain . . 0.9602 0.9887 0.9850 0.9750 0.9997 0.9680 0.9398 0.9605 0.9591 0.9572 0.9871 0.9773 0.9868 1 0.9656 0.9313 0.9613 hom 6002.36 178 3 52554304 . G C 6002.36 Mask AC=2;AF=1.00;AN=2;DP=178;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=59.33;MQ0=0;QD=33.72;VQSLOD=9.1942;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:6002,475,0 3 52555957 52555957 T C exonic STAB1 synonymous SNV STAB1:NM_015136:exon58:c.T6261C:p.R2087R 0.56 0.75 0.66 0.46 0.56 0.35 0.5555 0.7106 0.6534 0.4575 0.5522 0.5718 0.5729 0.3623 0.61 0.7 0.57 0.56 0.44 rs9853056 COSM446839 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5521 0.7125 0.6591 0.5517 0.4552 0.5580 0.5678 0.5452 0.3485 0.5968 0.7145 0.6372 0.5433 0.4391 0.5255 0.5642 0.5440 het 724 69 3 52555957 . T C 724 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.650;DP=69;Dels=0.00;FS=4.861;HRun=0;HaplotypeScore=1.3123;MQ=58.78;MQ0=0;MQRankSum=0.225;QD=10.49;ReadPosRankSum=-0.650;VQSLOD=5.7362;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,29:69:99:754,0,997 3 52556890 52556890 A G exonic STAB1 nonsynonymous SNV STAB1:NM_015136:exon62:c.A6844G:p.I2282V 0.34 0.15 0.5 0.44 0.47 0.25 0.4292 0.1858 0.5742 0.4385 0.4862 0.4776 0.4631 0.2562 0.38 0.19 0.47 0.24 0.4 rs4434138 COSM4002740 2(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.242 0.176 T 0.003 0.102 B 0.009 0.133 B 0.085 0.207 N 0.999 0.221 P -0.49 0.026 N 3.66 0.043 T -0.48 0.154 N 0.018 0.003 -0.989 0.329 T 0.000 0.000 T . . . 0.278 0.121 5.483 0.912 0.199 0.619 0.313 D c -0.778 -0.663 0.999 0.371 0.672 0.522 0 -0.467 0.115 0.978 0.289 -0.067 0.120 0.912 0.315 0.172 0.211 9.865 0.401 C-type lectin fold|C-type lectin-like|Link domain ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000163939.14|ENSG00000239799.1|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000243696.4|ENSG00000243696.4|ENSG00000163938.12|ENSG00000114904.8|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000168268.6|ENSG00000243696.4|ENSG00000168268.6|ENSG00000168268.6|ENSG00000239799.1|ENSG00000114904.8|ENSG00000168268.6|ENSG00000243696.4|ENSG00000168268.6|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000163939.14|ENSG00000243696.4|ENSG00000114904.8|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4 Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4401 0.1828 0.5695 0.4919 0.4357 0.4990 0.4706 0.4323 0.2608 0.3932 0.1937 0.5239 0.4834 0.4184 0.4662 0.4782 0.4344 het 2161.42 174 3 52556890 . A G 2161.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DP=174;Dels=0.00;FS=0.591;HRun=0;HaplotypeScore=4.2905;MQ=59.79;MQ0=0;MQRankSum=0.466;QD=12.42;ReadPosRankSum=-0.018;VQSLOD=5.1535;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,84:174:99:2191,0,2472 3 52558008 52558008 T C exonic STAB1 nonsynonymous SNV STAB1:NM_015136:exon67:c.T7517C:p.M2506T 0.55 0.71 0.65 0.45 0.57 0.33 0.5453 0.6674 0.6520 0.4534 0.5473 0.5714 0.5564 0.3395 0.6 0.65 0.57 0.54 0.42 rs13303 COSM3760167 2(large_intestine) . . . . . . . . . . . 0.781 0.033 T 0.0 0.026 B 0.0 0.013 B 0.698 0.062 N 1 0.090 P -1.79 0.003 N -1.77 0.837 D 1.77 0.005 N 0.041 0.469 -0.945 0.418 T 0.000 0.000 T . . . -1.320 0.021 0.004 0.517 0.045 0.006 0.028 N c -1.496 -1.356 1.000 0.747 0.672 0.522 0 3.6 0.402 -0.312 0.081 -0.326 0.075 0.000 0.063 0.015 0.124 6.319 0.203 . ENSG00000272573.1|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000163939.14|ENSG00000239799.1|ENSG00000114904.8|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168237.13|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000163939.14|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000168237.13|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000114904.8|ENSG00000239799.1|ENSG00000243696.4|ENSG00000168268.6|ENSG00000114904.8|ENSG00000168268.6|ENSG00000168237.13|ENSG00000168268.6|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000163939.14|ENSG00000114904.8|ENSG00000168237.13|ENSG00000242797.2|ENSG00000239799.1 Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5470 0.6669 0.6576 0.5466 0.4531 0.5561 0.5678 0.5409 0.3397 0.5832 0.6675 0.6328 0.5397 0.4400 0.5261 0.5635 0.5441 het 917.40 71 3 52558008 . T C 917.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.099;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=58.28;MQ0=0;MQRankSum=1.439;QD=12.92;ReadPosRankSum=0.864;VQSLOD=5.6183;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,34:71:99:947,0,937 3 52558133 52558133 T C exonic STAB1 synonymous SNV STAB1:NM_015136:exon68:c.T7560C:p.D2520D 0.39 0.33 0.51 0.43 0.47 0.27 0.4369 0.3193 0.5781 0.4346 0.4707 0.4683 0.4592 0.2723 0.41 0.31 0.47 0.29 0.41 rs13621 COSM4002742 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4455 0.3160 0.5745 0.4923 0.4338 0.4813 0.4624 0.4333 0.2760 0.4231 0.3240 0.5335 0.4868 0.4194 0.4471 0.4674 0.4356 het 3149.58 250 3 52558133 . T C 3149.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.632;DP=250;DS;Dels=0.00;FS=2.439;HRun=0;HaplotypeScore=5.4198;MQ=59.27;MQ0=0;MQRankSum=1.134;QD=12.60;ReadPosRankSum=1.523;VQSLOD=4.2515;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:3180,0,3645 3 52584787 52584787 T C exonic PBRM1 synonymous SNV PBRM1:NM_001350075:exon28:c.A4491G:p.P1497P,PBRM1:NM_018313:exon28:c.A4335G:p.P1445P,PBRM1:NM_181042:exon28:c.A4335G:p.P1445P,PBRM1:NM_001350079:exon29:c.A4323G:p.P1441P,PBRM1:NM_001350074:exon30:c.A4443G:p.P1481P,PBRM1:NM_001350076:exon30:c.A4440G:p.P1480P,PBRM1:NM_001350078:exon30:c.A4443G:p.P1481P,PBRM1:NM_001350077:exon31:c.A4434G:p.P1478P 0.32 0.15 0.47 0.43 0.42 0.25 0.3822 0.1724 0.5407 0.4314 0.3971 0.4142 0.4004 0.2414 0.33 0.17 0.41 0.23 0.33 rs2251219 COSM4002745;COSM4002744;COSM4002743 1(haematopoietic_and_lymphoid_tissue);16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3916 0.1691 0.5351 0.4545 0.4311 0.4064 0.4058 0.3859 0.2429 0.3415 0.1782 0.4904 0.4396 0.4148 0.3605 0.4115 0.3781 het 553.59 62 3 52584787 . T C 553.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.869;DP=62;Dels=0.00;FS=3.634;HRun=2;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=0.600;QD=8.93;ReadPosRankSum=0.238;VQSLOD=5.7520;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,24:62:99:584,0,988 3 52610651 52610651 T A exonic PBRM1 synonymous SNV PBRM1:NM_001350075:exon23:c.A3597T:p.P1199P,PBRM1:NM_018313:exon23:c.A3522T:p.P1174P,PBRM1:NM_181042:exon24:c.A3597T:p.P1199P,PBRM1:NM_001350079:exon25:c.A3585T:p.P1195P,PBRM1:NM_001350074:exon26:c.A3705T:p.P1235P,PBRM1:NM_001350076:exon26:c.A3702T:p.P1234P,PBRM1:NM_001350078:exon26:c.A3705T:p.P1235P,PBRM1:NM_001350077:exon27:c.A3696T:p.P1232P 0.32 0.15 0.46 0.43 0.42 0.22 0.3752 0.1731 0.5394 0.4304 0.3953 0.4087 0.3987 0.2138 0.33 0.17 0.4 0.23 0.3 rs17264436 COSM4002746;COSM4002748;COSM4002747 1(haematopoietic_and_lymphoid_tissue);16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3837 0.1685 0.5308 0.4522 0.4277 0.4045 0.3996 0.3789 0.2153 0.3383 0.1784 0.4868 0.4470 0.4127 0.3580 0.4059 0.3714 het 863.75 72 3 52610651 . T A 863.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.533;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8934;MQ=60.00;MQ0=0;MQRankSum=1.264;QD=12.00;ReadPosRankSum=0.584;VQSLOD=5.4221;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,32:72:99:894,0,1052 3 52643685 52643685 T C exonic PBRM1 synonymous SNV PBRM1:NM_001350075:exon17:c.A2211G:p.T737T,PBRM1:NM_018313:exon17:c.A2211G:p.T737T,PBRM1:NM_181042:exon18:c.A2211G:p.T737T,PBRM1:NM_001350079:exon19:c.A2274G:p.T758T,PBRM1:NM_001350074:exon20:c.A2319G:p.T773T,PBRM1:NM_001350076:exon20:c.A2319G:p.T773T,PBRM1:NM_001350078:exon20:c.A2319G:p.T773T,PBRM1:NM_001350077:exon21:c.A2310G:p.T770T 0.32 0.15 0.46 0.43 0.42 0.25 0.3820 0.1739 0.5411 0.4313 0.3964 0.4140 0.3976 0.2393 0.33 0.17 0.41 0.24 0.32 rs3755806 COSM1566685;COSM1566683;COSM1566684 2(haematopoietic_and_lymphoid_tissue);16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3913 0.1704 0.5347 0.4545 0.4303 0.4062 0.4059 0.3842 0.2405 0.3418 0.1795 0.4881 0.4470 0.4126 0.3603 0.4115 0.3778 het 2532.10 182 3 52643685 . T C 2532.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.191;DP=182;Dels=0.00;FS=0.563;HRun=0;HaplotypeScore=0.9947;MQ=59.53;MQ0=0;MQRankSum=-0.245;QD=13.91;ReadPosRankSum=1.418;VQSLOD=6.4295;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,100:182:99:2562,0,1993 3 52721305 52721305 G A exonic GNL3 nonsynonymous SNV GNL3:NM_014366:exon3:c.G116A:p.R39Q,GNL3:NM_206825:exon3:c.G80A:p.R27Q,GNL3:NM_206826:exon3:c.G80A:p.R27Q 0.31 0.15 0.46 0.42 0.42 0.21 0.3749 0.1757 0.5396 0.4299 0.3954 0.4096 0.3954 0.2027 0.32 0.17 0.4 0.24 0.3 rs11177 COSM4002752 1(haematopoietic_and_lymphoid_tissue) . . . . . Osteoarthritis 1.09 . 22763110 rs11177 5E-9 0.434 0.142 T 0.064 0.220 B 0.015 0.162 B 0.002 0.369 N 0.695 0.301 P 1.32 0.331 L 0.99 0.418 T -1.13 0.299 N 0.087 0.234 -0.901 0.480 T 0.000 0.000 T . . . 3.359 0.462 22.9 0.994 0.649 0.888 0.487 D c -0.374 -0.204 1.000 0.500 0.628 0.401 0 1.92 0.248 2.850 0.477 0.135 0.219 1.000 0.715 0.991 0.552 8.986 0.350 Guanine nucleotide-binding protein-like 3\x2c N-terminal domain ENSG00000243696.4|ENSG00000114904.8|ENSG00000272573.1|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000239799.1|ENSG00000163939.14|ENSG00000239799.1|ENSG00000114904.8|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000114904.8|ENSG00000164091.7|ENSG00000163938.12|ENSG00000168268.6|ENSG00000243696.4|ENSG00000168237.13|ENSG00000243696.4|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168237.13|ENSG00000242797.2|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000239799.1|ENSG00000114904.8|ENSG00000168237.13|ENSG00000243696.4|ENSG00000168268.6|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000163939.14|ENSG00000243696.4|ENSG00000114904.8|ENSG00000168268.6|ENSG00000168237.13|ENSG00000239799.1|ENSG00000243696.4 Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3841 0.1701 0.5327 0.4529 0.4283 0.4045 0.4008 0.3802 0.2073 0.3389 0.1788 0.4881 0.4470 0.4132 0.3582 0.4070 0.3686 het 1024.03 73 3 52721305 . G A 1024.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.377;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=59.68;MQ0=0;MQRankSum=-0.569;QD=14.03;ReadPosRankSum=0.712;VQSLOD=6.7196;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:1054,0,968 3 52727257 52727257 G A exonic GNL3 nonsynonymous SNV GNL3:NM_014366:exon11:c.G1099A:p.V367M,GNL3:NM_206825:exon11:c.G1063A:p.V355M,GNL3:NM_206826:exon11:c.G1063A:p.V355M 0.45 0.56 0.51 0.43 0.43 0.28 0.4292 0.5269 0.5662 0.4299 0.4049 0.4331 0.4283 0.2654 0.46 0.52 0.43 0.46 0.36 rs2289247 COSM4002753 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.383 0.125 T 0.0 0.026 B 0.0 0.013 B 0.375 0.044 N 1 0.090 P -0.845 0.015 N 1.46 0.322 T 0.97 0.015 N 0.023 0.048 -0.934 0.436 T 0.000 0.000 T . . . 1.405 0.232 12.82 0.864 0.160 0.114 0.164 N c -1.264 -1.125 1.000 0.458 0.646 0.442 0 0.476 0.159 0.172 0.164 -0.168 0.106 0.001 0.137 0.570 0.283 0.787 0.010 . ENSG00000114904.8|ENSG00000243696.4|ENSG00000114904.8|ENSG00000272573.1|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000163939.14|ENSG00000239799.1|ENSG00000114904.8|ENSG00000163938.12|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168268.6|ENSG00000163939.14|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000243696.4|ENSG00000168237.13|ENSG00000243696.4|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168237.13|ENSG00000163938.12|ENSG00000168237.13|ENSG00000242797.2|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000243696.4|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000239799.1|ENSG00000114904.8|ENSG00000243696.4|ENSG00000168268.6|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000163939.14|ENSG00000243696.4|ENSG00000114904.8|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000239799.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.4315 0.5251 0.5634 0.4698 0.4300 0.4131 0.4258 0.4188 0.2664 0.4523 0.5285 0.5359 0.4533 0.4155 0.3661 0.4298 0.4126 het 1410.42 120 3 52727257 . G A 1410.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.510;DP=120;Dels=0.00;FS=1.575;HRun=0;HaplotypeScore=2.3249;MQ=59.50;MQ0=0;MQRankSum=1.831;QD=11.75;ReadPosRankSum=0.281;VQSLOD=6.3632;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,54:120:99:1440,0,1971 3 52797634 52797634 G C exonic NEK4 nonsynonymous SNV NEK4:NM_001193533:exon4:c.C406G:p.P136A,NEK4:NM_001348412:exon5:c.C673G:p.P225A,NEK4:NM_001348413:exon5:c.C673G:p.P225A,NEK4:NM_001348414:exon5:c.C427G:p.P143A,NEK4:NM_003157:exon5:c.C673G:p.P225A 0.31 0.13 0.46 0.42 0.42 0.21 0.3727 0.1521 0.5388 0.4286 0.3954 0.4093 0.3932 0.2045 0.32 0.15 0.4 0.23 0.23 rs1029871 COSM4002754 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.018 0.555 D 0.955 0.525 P 0.843 0.585 P 0.001 0.396 N 0.000 0.588 P 1.865 0.494 L 1.79 0.255 T -5.31 0.844 D 0.16 0.321 -0.903 0.477 T 0.000 0.000 T . . . 4.372 0.585 24.1 0.996 0.763 0.841 0.429 D c 0.697 0.752 1.0 0.983 0.707 0.730 0 5.93 0.959 7.649 0.825 1.048 0.713 1.000 0.715 0.996 0.625 20.342 0.988 Protein kinase domain|Protein kinase-like domain;Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000243696.4|ENSG00000114904.8|ENSG00000272573.1|ENSG00000168268.6|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000239799.1|ENSG00000163939.14|ENSG00000239799.1|ENSG00000114904.8|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000114904.8|ENSG00000164091.7|ENSG00000163938.12|ENSG00000168268.6|ENSG00000243696.4|ENSG00000168237.13|ENSG00000243696.4|ENSG00000163938.12|ENSG00000163938.12|ENSG00000168237.13|ENSG00000242797.2|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000168268.6|ENSG00000239799.1|ENSG00000243696.4|ENSG00000114904.8|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168268.6|ENSG00000239799.1|ENSG00000114904.8|ENSG00000168237.13|ENSG00000243696.4|ENSG00000168268.6|ENSG00000163938.12|ENSG00000168268.6|ENSG00000168237.13|ENSG00000242797.2|ENSG00000163939.14|ENSG00000243696.4|ENSG00000114904.8|ENSG00000168268.6|ENSG00000168237.13|ENSG00000239799.1|ENSG00000243696.4 Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3819 0.1460 0.5305 0.4543 0.4284 0.4049 0.4016 0.3790 0.2038 0.3322 0.1567 0.4869 0.4470 0.4125 0.3590 0.4062 0.3686 het 1438.12 148 3 52797634 . G C 1438.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.560;DP=148;Dels=0.00;FS=1.969;HRun=0;HaplotypeScore=5.3711;MQ=59.25;MQ0=0;MQRankSum=2.402;QD=9.72;ReadPosRankSum=-2.030;VQSLOD=3.0357;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,56:148:99:1468,0,2589 3 52800284 52800284 T C exonic NEK4 synonymous SNV NEK4:NM_001193533:exon2:c.A201G:p.L67L,NEK4:NM_001348412:exon3:c.A468G:p.L156L,NEK4:NM_001348413:exon3:c.A468G:p.L156L,NEK4:NM_001348414:exon3:c.A222G:p.L74L,NEK4:NM_003157:exon3:c.A468G:p.L156L 0.33 0.15 0.46 0.43 0.42 0.3 0.3880 0.1752 0.5446 0.4328 0.3973 0.4143 0.4018 0.2780 0.33 0.18 0.41 0.24 0.33 rs2230535 COSM4002755 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3973 0.1721 0.5375 0.4549 0.4311 0.4067 0.4063 0.3883 0.2817 0.3425 0.1810 0.4893 0.45 0.4117 0.3607 0.4123 0.3765 het 1704.91 114 3 52800284 . T C 1704.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.551;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=0.360;QD=14.96;ReadPosRankSum=0.593;VQSLOD=7.2069;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,60:114:99:1735,0,1405 3 52802402 52802402 A C exonic NEK4 synonymous SNV NEK4:NM_001348412:exon2:c.T312G:p.P104P,NEK4:NM_001348413:exon2:c.T312G:p.P104P,NEK4:NM_001348414:exon2:c.T66G:p.P22P,NEK4:NM_003157:exon2:c.T312G:p.P104P 0.33 0.15 0.46 0.43 0.42 0.3 0.3878 0.1752 0.5442 0.4318 0.3970 0.4140 0.4009 0.2785 0.33 0.18 0.41 0.24 0.33 rs2230534 COSM4002756 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3972 0.1722 0.5373 0.4549 0.4303 0.4065 0.4060 0.3884 0.2823 0.3425 0.1807 0.4893 0.4470 0.4157 0.3609 0.4120 0.3765 het 2591.35 250 3 52802402 . A C 2591.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.984;DP=250;DS;Dels=0.00;FS=1.041;HRun=1;HaplotypeScore=6.2569;MQ=59.65;MQ0=0;MQRankSum=-0.461;QD=10.37;ReadPosRankSum=-0.751;VQSLOD=4.5198;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,107:250:99:2621,0,4308 3 52821210 52821210 C T exonic ITIH1 nonsynonymous SNV ITIH1:NM_001166435:exon11:c.C1031T:p.P344L,ITIH1:NM_001166436:exon11:c.C1031T:p.P344L,ITIH1:NM_001166434:exon13:c.C1469T:p.P490L,ITIH1:NM_002215:exon15:c.C1895T:p.P632L 0.0006 0.0008 . . 0.002 . 0.0010 0.0005 0.0004 0 0 0.0016 0 0.0003 0.0014 0.0002 0.002 . . rs140154114 COSM6049844 1(large_intestine) . . . . . . . . . . . 0.357 0.210 T 0.001 0.067 B 0.0 0.040 B 0.008 0.012 N 1 0.090 N -0.425 0.029 N 4.84 0.020 T -1.05 0.322 N 0.087 0.625 -0.921 0.454 T 0.003 0.011 T 0.002 0.051 T -0.285 0.070 0.720 0.362 0.023 0.002 0.011 N c -1.891 -1.965 1.000 0.747 0.487 0.133 0 -8.65 0.008 -4.989 0.002 -2.790 0.002 0.000 0.063 0.352 0.246 6.862 0.231 von Willebrand factor\x2c type A . . 0.0011 0.0005 0.0007 0.0001 0 0.0002 0.0020 0.0005 0.0003 0.0015 0.0005 0.0048 0 0 0 0.0025 0.0020 het 1064.14 117 3 52821210 . C T 1064.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.162;DP=117;Dels=0.00;FS=4.770;HRun=0;HaplotypeScore=1.6208;MQ=59.36;MQ0=0;MQRankSum=1.365;QD=9.10;ReadPosRankSum=-0.557;VQSLOD=3.9827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,43:117:99:1094,0,1875 3 52825585 52825585 T C exonic ITIH1 synonymous SNV ITIH1:NM_001166435:exon17:c.T1683C:p.S561S,ITIH1:NM_001166436:exon17:c.T1683C:p.S561S,ITIH1:NM_001166434:exon19:c.T2121C:p.S707S,ITIH1:NM_002215:exon21:c.T2547C:p.S849S 0.41 0.58 0.47 0.37 0.39 0.2 0.3805 0.5339 0.5463 0.3698 0.3823 0.3746 0.3863 0.1962 0.42 0.52 0.37 0.41 0.31 rs9324 COSM4002758 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3828 0.5345 0.5387 0.3941 0.3673 0.3911 0.3656 0.3738 0.2006 0.4178 0.5292 0.5072 0.3940 0.3614 0.3443 0.3760 0.3544 het 1587.32 153 3 52825585 . T C 1587.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.357;DP=153;Dels=0.00;FS=2.124;HRun=1;HaplotypeScore=1.9853;MQ=57.69;MQ0=0;MQRankSum=-0.138;QD=10.37;ReadPosRankSum=0.482;VQSLOD=5.0142;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,65:153:99:1617,0,2447 3 52852538 52852538 G T exonic ITIH4 nonsynonymous SNV ITIH4:NM_001166449:exon16:c.C2002A:p.P668T,ITIH4:NM_002218:exon18:c.C2092A:p.P698T 0.26 0.2 0.39 0.32 0.3 0.14 0.3187 0.2459 0.5465 0.3641 0.3507 0.3258 0.3125 0.1459 0.25 0.22 0.27 0.17 0.2 rs4687657 COSM4005593;COSM4005592 1(urinary_tract) . . . . . . . . . . . 0.017 0.512 D 0.011 0.156 B 0.009 0.133 B 0.000 0.002 N 1 0.090 P 1.5 0.380 L 4.91 0.015 T -1.6 0.404 N 0.142 0.199 -0.954 0.402 T 0.000 0.000 T . . . 0.653 0.156 8.514 0.742 0.103 0.039 0.092 N c -0.842 -1.000 0.992 0.327 0.615 0.372 0 1.62 0.227 -0.330 0.079 -0.904 0.026 0.000 0.063 0.000 0.016 4.156 0.097 . ENSG00000242142.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000243696.4|ENSG00000272573.1|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163939.14|ENSG00000239799.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000114904.8|ENSG00000163938.12|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163933.5|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000243696.4|ENSG00000213533.7|ENSG00000163933.5|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000163933.5|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000213533.7|ENSG00000163933.5|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000239799.1|ENSG00000242142.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000243696.4|ENSG00000239799.1|ENSG00000163938.12|ENSG00000242142.1|ENSG00000213533.7|ENSG00000163939.14|ENSG00000239799.1|ENSG00000243696.4|ENSG00000168268.6|ENSG00000213533.7|ENSG00000163935.9|ENSG00000239799.1|ENSG00000243696.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2808 0.2082 0.4887 0.3310 0.3017 0.2854 0.2605 0.2819 0.1265 0.2694 0.2119 0.4690 0.3444 0.3145 0.2470 0.2899 0.2797 het 470.67 29 3 52852538 . G T 470.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.858;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.023;QD=16.23;ReadPosRankSum=-0.574;VQSLOD=12.4126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,19:29:99:501,0,208 3 52860936 52860936 C T exonic ITIH4 synonymous SNV ITIH4:NM_001166449:exon4:c.G390A:p.V130V,ITIH4:NM_002218:exon4:c.G390A:p.V130V 0.24 0.2 0.38 0.32 0.26 0.12 0.2476 0.2068 0.4862 0.3099 0.2550 0.2370 0.2544 0.1131 0.23 0.22 0.23 0.17 0.22 rs2276817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2616 0.2101 0.4750 0.3168 0.3117 0.2661 0.2312 0.2560 0.1167 0.2450 0.2056 0.4438 0.33 0.3164 0.2229 0.2521 0.2495 het 1764.84 151 3 52860936 . C T 1764.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.893;DP=151;Dels=0.00;FS=1.294;HRun=0;HaplotypeScore=4.1751;MQ=58.95;MQ0=0;MQRankSum=-0.590;QD=11.69;ReadPosRankSum=0.241;VQSLOD=5.9126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,75:151:99:1795,0,2029 3 52861211 52861211 A T exonic ITIH4 nonsynonymous SNV ITIH4:NM_001166449:exon3:c.T254A:p.I85N,ITIH4:NM_002218:exon3:c.T254A:p.I85N 0.25 0.2 0.38 0.32 0.26 0.12 0.2478 0.2074 0.4863 0.3109 0.2556 0.2371 0.2550 0.1131 0.23 0.22 0.23 0.17 0.2 rs13072536 COSM4002760;COSM4002759 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.09 0.319 T 0.957 0.571 D 0.776 0.635 P 0.122 0.190 N 0.000 0.810 P 1.62 0.416 L 1.94 0.227 T -3.13 0.639 D 0.057 0.114 -0.941 0.426 T 0.000 0.000 T . . . 4.529 0.606 24.3 0.991 0.510 0.820 0.410 D c -0.028 -0.057 1.000 0.446 0.554 0.246 0 3.03 0.339 3.701 0.543 -0.132 0.111 1.000 0.715 0.906 0.385 6.909 0.234 VIT domain ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000243696.4|ENSG00000272573.1|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000163939.14|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000114904.8|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163935.9|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000163933.5|ENSG00000239799.1|ENSG00000243696.4|ENSG00000163938.12|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000239799.1|ENSG00000243696.4|ENSG00000239799.1|ENSG00000243696.4|ENSG00000243696.4|ENSG00000239799.1|ENSG00000163938.12|ENSG00000242142.1|ENSG00000213533.7|ENSG00000163939.14|ENSG00000239799.1|ENSG00000243696.4|ENSG00000213533.7|ENSG00000239799.1|ENSG00000243696.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.2616 0.2107 0.4751 0.3169 0.3117 0.2658 0.2311 0.2566 0.1167 0.2449 0.2059 0.4439 0.33 0.3162 0.2227 0.2520 0.2480 het 2213.67 171 3 52861211 . A T 2213.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.305;DP=171;Dels=0.00;FS=9.510;HRun=1;HaplotypeScore=5.7736;MQ=58.76;MQ0=0;MQRankSum=0.014;QD=12.95;ReadPosRankSum=-0.549;VQSLOD=3.7183;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,82:171:99:2244,0,2116 3 52864584 52864584 A G exonic ITIH4 synonymous SNV ITIH4:NM_001166449:exon1:c.T75C:p.T25T,ITIH4:NM_002218:exon1:c.T75C:p.T25T 0.51 0.7 0.56 0.37 0.4 0.46 0.4319 0.6650 0.5925 0.3640 0.3584 0.3913 0.4018 0.4033 0.48 0.65 0.38 0.49 0.33 rs2071042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4335 0.6717 0.5907 0.4340 0.3653 0.3699 0.3877 0.4092 0.3983 0.4683 0.6627 0.5680 0.4470 0.3708 0.3297 0.3970 0.4053 het 3156.25 220 3 52864584 . A G 3156.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.580;DP=220;Dels=0.00;FS=2.339;HRun=1;HaplotypeScore=1.7834;MQ=59.41;MQ0=0;MQRankSum=0.054;QD=14.35;ReadPosRankSum=-0.603;VQSLOD=6.7400;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,112:220:99:3186,0,2710 3 52867715 52867715 G C exonic MUSTN1;TMEM110-MUSTN1 nonsynonymous SNV MUSTN1:NM_205853:exon2:c.C60G:p.D20E,TMEM110-MUSTN1:NM_001198974:exon9:c.C930G:p.D310E 0.95 0.83 0.98 1. 1. 1. 0.9874 0.8473 0.9944 1 1 0.9997 0.9910 0.9998 0.95 0.85 1. 0.9 . rs6787916 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.994 0.235 P . . . . . . 2.19 0.033 N 0.138 0.160 -0.957 0.397 T 0.000 0.000 T . . . 2.254 0.332 17.86 0.951 0.257 0.092 0.149 N c -0.908 -0.650 1.000 0.489 0.653 0.482 0 3.41 0.380 0.470 0.216 -0.397 0.063 0.996 0.391 0.995 0.604 7.126 0.245 . . . 0.9896 0.8368 0.9950 0.9997 1 1 0.9999 0.9944 0.9999 0.9557 0.8439 0.9952 1 1 1 0.9997 0.9949 hom 460.37 15 3 52867715 . G C 460.37 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;QD=30.69;VQSLOD=8.0092;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:493,39,0 3 53125922 53125922 T C exonic RFT1 synonymous SNV RFT1:NM_052859:exon13:c.A1623G:p.T541T 0.49 0.17 0.58 0.75 0.6 0.48 0.5510 0.2447 0.6698 0.7419 0.5838 0.5673 0.5940 0.4801 0.46 0.25 0.56 0.4 0.57 rs11242 . . Benign|Benign not_specified|Congenital_disorder_of_glycosylation RCV000082329.5|RCV000353816.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5625 0.2407 0.6539 0.6523 0.7351 0.5857 0.5598 0.5928 0.4846 0.4950 0.2440 0.625 0.6291 0.7031 0.5704 0.5860 0.5733 het 1082.18 84 3 53125922 . T C 1082.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.197;DP=84;Dels=0.00;FS=3.006;HRun=0;HaplotypeScore=4.4758;MQ=59.17;MQ0=0;MQRankSum=-0.179;QD=12.88;ReadPosRankSum=-0.877;VQSLOD=5.5631;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,41:84:99:1112,0,1143 3 53220215 53220215 G A exonic PRKCD synonymous SNV PRKCD:NM_212539:exon12:c.G1119A:p.E373E,PRKCD:NM_001316327:exon13:c.G1119A:p.E373E,PRKCD:NM_006254:exon13:c.G1119A:p.E373E 0.28 0.34 0.29 0.22 0.29 0.25 0.2757 0.3307 0.2545 0.2030 0.2891 0.2836 0.2829 0.2566 0.3 0.32 0.28 0.29 0.24 rs2230494 COSM1179808;COSM1179809 1(bone);1(prostate);1(thyroid) Benign not_specified RCV000455584.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2710 0.3288 0.2582 0.2505 0.2048 0.2815 0.2803 0.2798 0.2568 0.2856 0.3232 0.3110 0.2517 0.2108 0.2874 0.2711 0.2802 het 1091.50 96 3 53220215 . G A 1091.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.355;DP=96;Dels=0.00;FS=2.047;HRun=1;HaplotypeScore=3.4362;MQ=59.52;MQ0=0;MQRankSum=-0.727;QD=11.37;ReadPosRankSum=1.761;VQSLOD=5.3425;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,42:96:99:1121,0,1616 3 53222761 53222761 C T exonic PRKCD synonymous SNV PRKCD:NM_212539:exon15:c.C1441T:p.L481L,PRKCD:NM_001316327:exon16:c.C1441T:p.L481L,PRKCD:NM_006254:exon16:c.C1441T:p.L481L 0.71 0.7 0.72 0.76 0.75 0.64 0.7480 0.7282 0.7680 0.7904 0.7409 0.7655 0.7456 0.6567 0.76 0.72 0.78 0.71 0.77 rs2306574 COSM149403 1(stomach) Benign not_specified RCV000455968.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7511 0.7218 0.7642 0.7674 0.7869 0.7424 0.772 0.7578 0.6554 0.7580 0.7198 0.7356 0.7667 0.7833 0.7338 0.7843 0.7556 het 1595.20 145 3 53222761 . C T 1595.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.165;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7880;MQ=58.76;MQ0=0;MQRankSum=-0.669;QD=11.00;ReadPosRankSum=-2.052;VQSLOD=4.7238;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,64:145:99:1625,0,2246 3 53223927 53223927 C G exonic PRKCD synonymous SNV PRKCD:NM_212539:exon17:c.C1782G:p.T594T,PRKCD:NM_001316327:exon18:c.C1782G:p.T594T,PRKCD:NM_006254:exon18:c.C1782G:p.T594T 0.9 0.78 0.97 0.97 1. 0.86 0.9655 0.8071 0.9900 0.9683 1 0.9994 0.9835 0.8945 0.93 0.81 1. 0.89 0.98 rs1075865 . . Benign not_specified RCV000454840.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9701 0.8005 0.9900 0.9985 0.9679 1 0.9993 0.9865 0.8938 0.9428 0.8065 0.9905 0.9967 0.9728 1 0.9993 0.9806 hom 7664.34 250 3 53223927 . C G 7664.34 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4499;MQ=59.04;MQ0=0;QD=30.66;VQSLOD=5.5193;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7662,674,0 3 53224002 53224002 T C exonic PRKCD synonymous SNV PRKCD:NM_212539:exon17:c.T1857C:p.P619P,PRKCD:NM_001316327:exon18:c.T1857C:p.P619P,PRKCD:NM_006254:exon18:c.T1857C:p.P619P 0.94 0.79 0.97 1. 1. 1. 0.9835 0.8206 0.9915 1 1 0.9995 0.9945 0.9997 0.94 0.82 1. 0.94 0.98 rs900495 . . Benign not_specified RCV000455503.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9869 0.8166 0.9911 0.9985 1 1 0.9995 0.9929 0.9997 0.9481 0.8192 0.9905 0.9967 1 1 0.9993 0.9888 hom 8542.01 250 3 53224002 . T C 8542.01 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.2627;MQ=59.00;MQ0=0;QD=34.17;VQSLOD=8.5994;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8541,677,0 3 53321631 53321631 A C exonic DCP1A synonymous SNV DCP1A:NM_001290207:exon8:c.T1239G:p.V413V,DCP1A:NM_001290204:exon9:c.T1602G:p.V534V,DCP1A:NM_001290206:exon9:c.T1353G:p.V451V,DCP1A:NM_018403:exon10:c.T1716G:p.V572V,DCP1A:NM_001290205:exon11:c.T1500G:p.V500V 0.39 0.48 0.35 0.18 0.42 0.5 0.3972 0.4698 0.2789 0.1532 0.4040 0.4170 0.3862 0.4824 0.43 0.46 0.41 0.41 . rs9628 COSM3760172 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3886 0.4759 0.2911 0.3803 0.1528 0.3997 0.4135 0.3978 0.4860 0.4112 0.4837 0.3477 0.4172 0.1409 0.3941 0.4058 0.4096 het 2045.24 170 3 53321631 . A C 2045.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.641;DP=170;Dels=0.00;FS=1.914;HRun=0;HaplotypeScore=4.1290;MQ=58.57;MQ0=0;MQRankSum=-0.609;QD=12.03;ReadPosRankSum=1.367;VQSLOD=5.3151;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,84:170:99:2075,0,2090 3 53326534 53326534 A G exonic DCP1A synonymous SNV DCP1A:NM_001290207:exon5:c.T471C:p.P157P,DCP1A:NM_001290204:exon6:c.T834C:p.P278P,DCP1A:NM_001290206:exon6:c.T585C:p.P195P,DCP1A:NM_018403:exon7:c.T948C:p.P316P,DCP1A:NM_001290205:exon8:c.T732C:p.P244P 0.0072 0.0015 0.0086 . 0.027 0.001 0.0150 0.0038 0.0083 0 0.0262 0.0217 0.0156 0.0023 0.014 0.004 0.019 0.011 . rs34366563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0150 0.0040 0.0081 0.0127 0 0.0257 0.0221 0.0197 0.0023 0.0164 0.0022 0.0036 0.0066 0 0.0224 0.0255 0.0234 het 584.23 66 3 53326534 . A G 584.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.406;DP=66;Dels=0.00;FS=3.535;HRun=3;HaplotypeScore=1.9990;MQ=59.65;MQ0=0;MQRankSum=-1.713;QD=8.85;ReadPosRankSum=1.686;VQSLOD=3.9948;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,24:66:99:614,0,1172 3 53700550 53700550 T C exonic CACNA1D synonymous SNV CACNA1D:NM_000720:exon7:c.T1104C:p.D368D,CACNA1D:NM_001128839:exon7:c.T1104C:p.D368D,CACNA1D:NM_001128840:exon7:c.T1104C:p.D368D 0.71 0.93 0.61 0.65 0.53 0.71 0.5945 0.8833 0.6073 0.6232 0.6072 0.5251 0.5771 0.6648 0.65 0.87 0.53 0.78 0.35 rs2250736 . . Benign not_specified RCV000222719.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5884 0.8915 0.5978 0.4853 0.6179 0.6012 0.5276 0.5559 0.6603 0.6466 0.8772 0.6026 0.4967 0.6200 0.5856 0.5390 0.5833 het 2647.81 202 3 53700550 . T C 2647.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.466;DP=202;DS;Dels=0.00;FS=1.188;HRun=0;HaplotypeScore=5.0931;MQ=58.87;MQ0=0;MQRankSum=-1.051;QD=13.11;ReadPosRankSum=0.477;VQSLOD=5.1539;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,108:202:99:2678,0,2684 3 53856653 53856653 C T exonic CHDH synonymous SNV CHDH:NM_018397:exon4:c.G720A:p.A240A 0.44 0.16 0.44 0.57 0.53 0.61 0.5053 0.2158 0.4622 0.5655 0.4929 0.5306 0.4967 0.5890 0.44 0.22 0.55 0.28 0.63 rs2241808 COSM4158237 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5085 0.2137 0.4637 0.4758 0.5744 0.4864 0.5371 0.5094 0.5880 0.4432 0.2193 0.4773 0.4503 0.5880 0.4865 0.5402 0.5340 het 1209.15 86 3 53856653 . C T 1209.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.605;DP=86;Dels=0.00;FS=2.434;HRun=0;HaplotypeScore=1.6644;MQ=59.30;MQ0=0;MQRankSum=-0.890;QD=14.06;ReadPosRankSum=0.838;VQSLOD=5.6274;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,43:86:99:1239,0,1074 3 53883722 53883722 C G exonic IL17RB synonymous SNV IL17RB:NM_018725:exon3:c.C126G:p.P42P 0.43 0.08 0.46 0.47 0.63 0.63 0.5649 0.1607 0.4845 0.4826 0.6006 0.6352 0.5815 0.6205 0.48 0.18 0.63 0.3 0.63 rs1025689 COSM4002767 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5646 0.1496 0.4839 0.5882 0.4791 0.5971 0.6348 0.5701 0.6190 0.4886 0.1662 0.5060 0.5733 0.4596 0.6062 0.6401 0.6384 hom 6996.08 242 3 53883722 . C G 6996.08 Mask AC=2;AF=1.00;AN=2;DP=242;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.8990;MQ=58.82;MQ0=0;QD=28.91;VQSLOD=7.4568;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:6994,569,0 3 53886912 53886912 C T exonic IL17RB synonymous SNV IL17RB:NM_018725:exon5:c.C369T:p.Y123Y 0.43 0.43 0.32 0.59 0.34 0.43 0.3667 0.4021 0.3322 0.6247 0.3140 0.3293 0.3300 0.4077 0.35 0.4 0.33 0.37 0.37 rs3733075 COSM3760176 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3636 0.3989 0.3394 0.3048 0.6127 0.3082 0.3321 0.3490 0.4090 0.3644 0.3952 0.3556 0.3113 0.6174 0.3076 0.3335 0.3717 het 873.94 77 3 53886912 . C T 873.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.852;DP=77;Dels=0.00;FS=0.944;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=0.118;QD=11.35;ReadPosRankSum=0.149;VQSLOD=6.6819;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,34:77:99:904,0,1264 3 53905308 53905308 T C exonic ACTR8 synonymous SNV ACTR8:NM_022899:exon11:c.A1518G:p.G506G 0.69 0.72 0.62 0.94 0.45 0.7 0.5546 0.6838 0.7281 0.9464 0.4214 0.4390 0.5187 0.6686 0.52 0.68 0.44 0.65 0.52 rs1046677 COSM3760177;COSM3760178 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5557 0.6796 0.7128 0.4406 0.9403 0.4148 0.4413 0.5206 0.6672 0.5379 0.6701 0.7069 0.4437 0.9581 0.4216 0.4368 0.5112 het 2435.74 212 3 53905308 . T C 2435.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.271;DP=212;Dels=0.00;FS=1.743;HRun=2;HaplotypeScore=9.4775;MQ=59.01;MQ0=0;MQRankSum=1.043;QD=11.49;ReadPosRankSum=0.586;VQSLOD=4.4979;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,93:212:99:2466,0,3209 3 53906513 53906513 G A exonic ACTR8 synonymous SNV ACTR8:NM_022899:exon10:c.C1200T:p.I400I 0.69 0.71 0.62 0.94 0.45 0.7 0.5540 0.6769 0.7274 0.9464 0.4211 0.4390 0.5187 0.6693 0.52 0.67 0.44 0.65 0.49 rs4687757 COSM3760180;COSM3760179 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5524 0.6718 0.7114 0.4397 0.9406 0.4140 0.4401 0.5188 0.6650 0.5361 0.6651 0.7043 0.4437 0.9592 0.4218 0.4361 0.5122 het 2330.17 212 3 53906513 . G A 2330.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.555;DP=212;DS;Dels=0.00;FS=9.742;HRun=1;HaplotypeScore=10.9586;MQ=59.48;MQ0=0;MQRankSum=-0.392;QD=10.99;ReadPosRankSum=0.462;VQSLOD=3.0812;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,88:212:99:2360,0,3566 3 54354510 54354510 T C exonic CACNA2D3 synonymous SNV CACNA2D3:NM_018398:exon3:c.T246C:p.I82I 0.65 0.63 0.61 0.6 0.73 0.68 0.7252 0.6830 0.6692 0.6563 0.7109 0.7638 0.7268 0.6738 0.72 0.67 0.74 0.73 . rs9879885 COSM446878 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6824 0.6453 0.6007 0.7182 0.5438 0.6708 0.7392 0.7093 0.6718 0.6888 0.6539 0.6172 0.7167 0.5432 0.6754 0.7313 0.6898 het 170.11 23 3 54354510 . T C 170.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DP=23;Dels=0.00;FS=1.760;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.807;QD=7.40;ReadPosRankSum=1.452;VQSLOD=5.3720;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,8:23:99:200,0,386 3 54925426 54925426 C T exonic CACNA2D3 nonsynonymous SNV CACNA2D3:NM_018398:exon25:c.C2195T:p.T732M 0.0038 0.0015 0.0014 . 0.016 . 0.0076 0.0025 0.0022 0 0.0207 0.0103 0.0067 0.0025 0.0083 0.0021 0.011 . . rs112362995 . . . . . . . . . . . . . 0.001 0.784 D 0.998 0.715 D 0.899 0.620 P 0.000 0.843 D 1.000 0.588 D 1.79 0.469 L 1.58 0.291 T -2.58 0.584 D 0.332 0.456 -0.957 0.398 T 0.114 0.405 T . . . 7.131 0.943 34 0.999 0.993 0.615 0.312 D c 0.711 0.722 1.0 0.983 0.554 0.283 0 5.54 0.828 7.568 0.814 0.935 0.490 1.000 0.715 0.943 0.417 17.659 0.880 . . . 0.0078 0.0024 0.0022 0.0018 5.8e-05 0.0214 0.0105 0.0082 0.0026 0.0093 0.0019 0.0024 0 0 0.0286 0.0104 0.0122 het 749.64 77 3 54925426 . C T 749.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.463;DP=77;Dels=0.00;FS=3.017;HRun=0;HaplotypeScore=2.8291;MQ=59.21;MQ0=0;MQRankSum=1.184;QD=9.74;ReadPosRankSum=1.373;VQSLOD=5.1838;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,33:77:99:780,0,1062 3 56627598 56627598 A G exonic CCDC66 nonsynonymous SNV CCDC66:NM_001012506:exon9:c.A1046G:p.Q349R,CCDC66:NM_001141947:exon9:c.A1148G:p.Q383R 0.96 0.86 0.98 1. 1. 1. 0.9873 0.8664 0.9927 1 1 0.9991 0.9945 0.9996 0.95 0.87 1. 0.9 1. rs1491170 . . . . . . . . . . . . . 0.73 0.038 T 0.0 0.026 B 0.0 0.013 B 0.450 0.048 N 1 0.090 P -0.205 0.041 N 1.97 0.221 T 0.33 0.039 N 0.011 0.150 -1.042 0.166 T 0.000 0.000 T . . . -3.578 0.000 0.001 0.175 0.005 0.012 0.042 N c -2.102 -2.128 0.942 0.275 0.563 0.310 0 -7.35 0.013 -0.348 0.077 -1.980 0.005 0.001 0.137 0.003 0.074 11.374 0.488 . . . 0.9896 0.8617 0.9915 0.9984 1 1 0.9992 0.9927 0.9995 0.9597 0.8594 0.9857 1 1 1 0.9997 0.9939 hom 3230.05 111 3 56627598 . A G 3230.05 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.29;MQ0=0;QD=29.10;VQSLOD=8.1546;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3264,265,0 3 56650012 56650012 G C exonic CCDC66 nonsynonymous SNV CCDC66:NM_001012506:exon13:c.G1672C:p.E558Q,CCDC66:NM_001141947:exon13:c.G1774C:p.E592Q 0.31 0.41 0.18 0.38 0.12 0.39 0.2006 0.3878 0.2348 0.3422 0.1219 0.1161 0.1998 0.3580 0.21 0.39 0.12 0.35 0.082 rs4681904 COSM3760184;COSM3760182;COSM3760183 2(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.219 0.194 T 0.496 0.352 P 0.178 0.341 B 0.054 0.228 N 1 0.090 P 1.59 0.404 L 1.86 0.243 T -1.29 0.324 N 0.075 0.570 -0.902 0.478 T 0.000 0.000 T . . . 2.220 0.328 17.64 0.955 0.264 0.627 0.316 D c -0.230 -0.208 0.035 0.142 0.651 0.465 0 3.71 0.416 2.495 0.448 0.998 0.613 0.851 0.302 0.604 0.289 9.707 0.392 . ENSG00000180376.12 Whole_Blood 0.1947 0.3930 0.2284 0.1613 0.3422 0.1196 0.1126 0.1732 0.3508 0.2020 0.3884 0.2127 0.1887 0.3302 0.1283 0.1001 0.1544 hom 3169.43 94 3 56650012 . G C 3169.43 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.27;MQ0=0;QD=33.72;VQSLOD=7.8338;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3202,259,0 3 56650054 56650054 - CTC exonic CCDC66 nonframeshift insertion CCDC66:NM_001012506:exon13:c.1714_1715insCTC:p.S572_K573insP,CCDC66:NM_001141947:exon13:c.1816_1817insCTC:p.S606_K607insP . . . . . . 0.2069 0.3802 0.2348 0.3416 0.1258 0.1163 0.2037 0.4069 0.38 0.46 0.34 0.054 . rs56302802 COSM1485402;COSM1485401;COSM4603456 12(upper_aerodigestive_tract);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1978 0.3842 0.2244 0.1610 0.3391 0.1232 0.1123 0.1754 0.3980 0.2010 0.3801 0.2098 0.1887 0.3298 0.1313 0.1017 0.1653 hom 8172.54 126 3 56650054 . T TCTC 8172.54 Mask AC=2;AF=1.00;AN=2;DP=126;FS=0.000;HRun=0;HaplotypeScore=508.8263;MQ=54.25;MQ0=0;QD=64.86;set=variant2 GT:AD:DP:GQ:PL 1/1:8,114:126:99:8173,361,0 3 56658871 56658871 T C exonic FAM208A nonsynonymous SNV FAM208A:NM_015224:exon15:c.A2992G:p.I998V,FAM208A:NM_001112736:exon22:c.A4303G:p.I1435V 0.29 0.33 0.17 0.38 0.11 0.44 0.1904 0.3214 0.2255 0.3407 0.1181 0.1014 0.1929 0.3931 0.18 0.32 0.1 0.28 0.09 rs2291498 COSM4002780;COSM4002781 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.666 0.074 T 0.003 0.154 B 0.009 0.179 B 0.001 0.422 N 0.999 0.221 P -0.895 0.014 N 0.86 0.468 T 0.15 0.066 N 0.049 0.072 -0.950 0.410 T 0.000 0.000 T . . . 0.367 0.129 6.324 0.709 0.092 0.581 0.303 D c -0.534 -0.375 0.999 0.377 0.707 0.730 0 1.82 0.241 -0.138 0.103 0.964 0.580 0.651 0.279 1.000 0.888 5.646 0.167 . ENSG00000180376.12|ENSG00000180376.12|ENSG00000180376.12 Cells_EBV-transformed_lymphocytes|Heart_Left_Ventricle|Whole_Blood 0.1867 0.3279 0.2187 0.1464 0.3408 0.1152 0.0975 0.1608 0.3875 0.1736 0.3202 0.1938 0.1722 0.3294 0.1240 0.0838 0.1487 hom 1988.45 69 3 56658871 . T C 1988.45 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=28.82;VQSLOD=8.6781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2021,159,0 3 56667682 56667682 G C exonic FAM208A nonsynonymous SNV FAM208A:NM_015224:exon11:c.C1826G:p.T609R,FAM208A:NM_001112736:exon18:c.C3137G:p.T1046R 0.78 0.93 0.71 0.95 0.46 0.8 0.6031 0.8538 0.7899 0.9620 0.4858 0.4588 0.5907 0.7569 0.59 0.85 0.46 0.8 0.48 rs9835332 . . . . . . . Height . .03 20881960 rs9835332 5E-13 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.209 0.164 N 1 0.090 P -0.895 0.014 N 2.82 0.109 T 0.54 0.028 N 0.047 0.028 -1.033 0.193 T 0.000 0.000 T . . . -1.053 0.030 0.012 0.208 0.008 0.039 0.092 N c -1.429 -1.289 0.011 0.121 0.707 0.730 0 0.788 0.177 -0.343 0.078 -1.043 0.020 0.115 0.229 0.902 0.382 7.797 0.281 . ENSG00000180376.12|ENSG00000163946.9|ENSG00000180376.12|ENSG00000180376.12|ENSG00000180376.12|ENSG00000180376.12|ENSG00000163946.9|ENSG00000180376.12|ENSG00000180376.12|ENSG00000180376.12|ENSG00000180376.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Nerve_Tibial|Thyroid 0.6044 0.8574 0.7762 0.4381 0.9640 0.4882 0.4614 0.5639 0.7527 0.6029 0.8460 0.7363 0.4669 0.9753 0.4894 0.4460 0.5532 hom 4675.38 145 3 56667682 . G C 4675.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.039;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=1.708;QD=32.24;ReadPosRankSum=1.230;VQSLOD=8.8031;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,144:145:99:4653,342,0 3 56763316 56763316 G A exonic ARHGEF3 synonymous SNV ARHGEF3:NM_001128616:exon10:c.C1581T:p.H527H,ARHGEF3:NM_019555:exon10:c.C1563T:p.H521H,ARHGEF3:NM_001289698:exon11:c.C1581T:p.H527H,ARHGEF3:NM_001128615:exon13:c.C1659T:p.H553H 0.73 0.88 0.66 0.85 0.42 0.77 0.5597 0.8261 0.7540 0.8394 0.4597 0.4177 0.5402 0.7242 0.56 0.82 0.42 0.7 0.46 rs1565376 COSM3760186;COSM3760188;COSM3760187;COSM3760185 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5617 0.8338 0.7432 0.4103 0.8442 0.4628 0.4196 0.5066 0.7105 0.5722 0.8205 0.7022 0.4570 0.8610 0.4605 0.4230 0.4928 hom 3616.44 111 3 56763316 . G A 3616.44 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=58.98;MQ0=0;QD=32.58;VQSLOD=9.0899;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3616,289,0 3 56763328 56763328 T C exonic ARHGEF3 synonymous SNV ARHGEF3:NM_001128616:exon10:c.A1569G:p.G523G,ARHGEF3:NM_019555:exon10:c.A1551G:p.G517G,ARHGEF3:NM_001289698:exon11:c.A1569G:p.G523G,ARHGEF3:NM_001128615:exon13:c.A1647G:p.G549G 0.73 0.87 0.66 0.85 0.42 0.77 0.5584 0.8189 0.7539 0.8402 0.4603 0.4173 0.5376 0.7193 0.55 0.81 0.42 0.69 0.47 rs1565377 COSM3760189;COSM3760192;COSM3760190;COSM3760191 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5615 0.8276 0.7429 0.4105 0.8447 0.4638 0.4201 0.5073 0.7109 0.5709 0.8156 0.7002 0.4570 0.8614 0.4602 0.4231 0.4959 hom 4344.43 135 3 56763328 . T C 4344.43 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9867;MQ=59.16;MQ0=0;QD=32.18;VQSLOD=9.6952;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4344,337,0 3 56763525 56763525 A G exonic ARHGEF3 synonymous SNV ARHGEF3:NM_001128616:exon10:c.T1372C:p.L458L,ARHGEF3:NM_019555:exon10:c.T1354C:p.L452L,ARHGEF3:NM_001289698:exon11:c.T1372C:p.L458L,ARHGEF3:NM_001128615:exon13:c.T1450C:p.L484L 0.27 0.25 0.11 0.34 0.17 0.43 0.2030 0.2434 0.0929 0.3262 0.1940 0.1526 0.2280 0.3962 0.18 0.25 0.15 0.23 0.13 rs1009118 COSM3760196;COSM3760195;COSM3760194;COSM3760193 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1977 0.2485 0.1017 0.1877 0.3210 0.1924 0.1501 0.1890 0.3894 0.1875 0.2456 0.1110 0.2133 0.2937 0.1855 0.1469 0.1810 hom 5076.74 156 3 56763525 . A G 5076.74 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4290;MQ=58.94;MQ0=0;QD=32.54;VQSLOD=5.1683;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:5076,397,0 3 56763619 56763619 A G exonic ARHGEF3 synonymous SNV ARHGEF3:NM_001128616:exon10:c.T1278C:p.N426N,ARHGEF3:NM_019555:exon10:c.T1260C:p.N420N,ARHGEF3:NM_001289698:exon11:c.T1278C:p.N426N,ARHGEF3:NM_001128615:exon13:c.T1356C:p.N452N 0.27 0.25 0.11 0.34 0.17 0.43 0.2043 0.2463 0.0932 0.3265 0.1942 0.1535 0.2341 0.4088 0.18 0.25 0.15 0.23 0.13 rs6765444 COSM3760197;COSM3760198;COSM3760200;COSM3760199 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1963 0.2479 0.1009 0.1848 0.3199 0.1920 0.1488 0.1868 0.3856 0.1874 0.2458 0.1110 0.2119 0.2928 0.1855 0.1468 0.1806 hom 3665.33 122 3 56763619 . A G 3665.33 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8490;MQ=59.01;MQ0=0;QD=30.04;VQSLOD=9.0577;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3665,289,0 3 56766435 56766435 C G exonic ARHGEF3 synonymous SNV ARHGEF3:NM_001128616:exon9:c.G1077C:p.L359L,ARHGEF3:NM_019555:exon9:c.G1059C:p.L353L,ARHGEF3:NM_001289698:exon10:c.G1077C:p.L359L,ARHGEF3:NM_001128615:exon12:c.G1155C:p.L385L 0.26 0.24 0.1 0.34 0.14 0.42 0.1822 0.2306 0.0827 0.3282 0.1724 0.1231 0.2093 0.3864 0.15 0.23 0.12 0.21 0.11 rs3732511 COSM4002787;COSM4002786;COSM4002785;COSM4002784 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1764 0.2346 0.0917 0.1808 0.3235 0.1709 0.1164 0.1671 0.3792 0.1648 0.2270 0.1002 0.1887 0.2968 0.1701 0.1165 0.1640 hom 4976.91 151 3 56766435 . C G 4976.91 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.99;MQ0=0;QD=32.96;VQSLOD=9.2660;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:4976,394,0 3 56835761 56835761 G A exonic ARHGEF3 synonymous SNV ARHGEF3:NM_019555:exon1:c.C66T:p.P22P 0.32 0.023 0.49 0.19 0.57 0.48 0.5078 0.1274 0.5994 0.2993 0.7134 0.5824 0.4964 0.4986 0.39 0.11 0.54 0.2 0.26 rs3732508 COSM446908;COSM1485411 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4845 0.0901 0.5176 0.4274 0.1804 0.7077 0.5417 0.4775 0.4807 0.4423 0.1094 0.5119 0.4633 0.2025 0.7255 0.5829 0.5787 hom 330.11 11 3 56835761 . G A 330.11 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;QD=30.01;VQSLOD=8.2140;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:363,30,0 3 57132200 57132200 A G exonic IL17RD synonymous SNV IL17RD:NM_017563:exon12:c.T1531C:p.L511L,IL17RD:NM_001318864:exon13:c.T1099C:p.L367L 0.74 0.61 0.85 0.51 0.86 0.92 0.8239 0.6427 0.8456 0.4976 0.8973 0.8574 0.8579 0.9265 0.79 0.66 0.86 0.67 . rs2291462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8280 0.6384 0.8469 0.8231 0.4947 0.8976 0.8580 0.8454 0.9270 0.7820 0.6457 0.8377 0.8841 0.4777 0.8980 0.8579 0.8405 hom 1962.39 60 3 57132200 . A G 1962.39 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.62;MQ0=0;QD=32.71;VQSLOD=9.5673;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1995,156,0 3 57138419 57138419 G A exonic IL17RD nonsynonymous SNV IL17RD:NM_017563:exon8:c.C764T:p.T255M,IL17RD:NM_001318864:exon9:c.C332T:p.T111M 0.53 0.57 0.52 0.14 0.71 0.69 0.6490 0.5927 0.5049 0.1452 0.7429 0.7091 0.6593 0.7308 0.67 0.58 0.71 0.51 . rs6780995 COSM5021407;COSM5021406;COSM5021408 1(bone) . . . . . . . . . . . 0.094 0.313 T 0.943 0.511 P 0.302 0.394 B 0.088 0.205 N 0.790 0.292 P 1.245 0.315 L 2.89 0.102 T -0.17 0.102 N 0.073 0.104 -1.079 0.075 T 0.000 0.000 T . . . 2.678 0.383 20.7 0.959 0.275 0.568 0.300 D c -0.298 -0.249 1.000 0.407 0.707 0.730 0 -0.521 0.113 0.888 0.277 0.128 0.215 0.994 0.380 0.999 0.750 10.944 0.463 Interleukin 17 receptor D\x2c N-terminal . . 0.6212 0.5731 0.4747 0.6556 0.1233 0.7368 0.6954 0.6464 0.7183 0.6306 0.5815 0.5180 0.6921 0.1156 0.7376 0.6926 0.6633 hom 362.40 13 3 57138419 . G A 362.40 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.88;VQSLOD=13.6621;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:30.10:395,30,0 3 57139972 57139972 A G exonic IL17RD synonymous SNV IL17RD:NM_017563:exon7:c.T660C:p.H220H,IL17RD:NM_001318864:exon8:c.T228C:p.H76H 0.79 0.75 0.89 0.52 0.9 0.96 0.8697 0.7721 0.9091 0.5061 0.9332 0.8956 0.8943 0.9606 0.86 0.78 0.9 0.8 . rs1545981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8718 0.7672 0.9065 0.8516 0.5014 0.9353 0.8966 0.8872 0.9607 0.8421 0.7636 0.8926 0.8974 0.4838 0.9342 0.8975 0.8929 hom 1898.75 64 3 57139972 . A G 1898.75 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.13;MQ0=0;QD=29.67;VQSLOD=8.5621;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1932,162,0 3 57303684 57303684 A G exonic APPL1 nonsynonymous SNV APPL1:NM_012096:exon22:c.A2099G:p.E700G 0.073 0.0068 0.13 0.004 0.16 0.1 0.1298 0.0337 0.0985 0.0008 0.1825 0.1643 0.1421 0.1181 0.13 0.043 0.17 0.033 0.16 rs11544593 COSM5002815 1(pancreas) . . . . . . . . . . . 0.007 0.599 D 0.455 0.344 P 0.111 0.300 B 0.000 0.629 D 0.000 0.810 P 2.045 0.562 M 2.69 0.123 T -1.55 0.375 N 0.174 0.211 -0.973 0.365 T 0.000 0.000 T . . . 3.919 0.528 23.5 0.959 0.274 0.990 0.891 D c 0.250 0.413 0.999 0.378 0.706 0.609 0 5.65 0.868 8.655 0.908 0.244 0.267 1.000 0.715 1.000 0.888 16.161 0.814 . ENSG00000239388.4|ENSG00000239388.4|ENSG00000239388.4 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Colon_Sigmoid 0.1300 0.0300 0.1018 0.0409 0.0008 0.1780 0.1745 0.1304 0.1154 0.1229 0.0335 0.1158 0.0265 0.0025 0.1966 0.1715 0.1477 hom 4697.97 146 3 57303684 . A G 4697.97 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9283;MQ=57.59;MQ0=0;QD=32.18;VQSLOD=7.7817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4697,370,0 3 57528503 57528503 A G exonic DNAH12 nonsynonymous SNV DNAH12:NM_198564:exon2:c.T95C:p.V32A 0.22 0.55 0.17 0.003 0.15 0.093 0.1623 0.4965 0.1220 0.0007 0.1924 0.1505 0.1567 0.1006 0.27 0.49 0.15 0.25 0.17 rs9311651 . . . . . . . . . . . . . 0.822 0.034 T 0.0 0.026 B 0.002 0.063 B 0.107 0.196 N 1 0.090 P 1.7 0.440 L 2.09 0.201 T 0.65 0.042 N 0.075 0.083 -0.911 0.468 T 0.000 0.000 T . . . -0.831 0.039 0.036 0.321 0.018 0.018 0.056 N c -1.082 -1.096 0.001 0.081 0.554 0.246 0 -2.94 0.052 0.062 0.142 0.220 0.255 0.002 0.151 0.662 0.301 3.962 0.088 . ENSG00000168374.6|ENSG00000168374.6|ENSG00000168374.6 Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse 0.1511 0.4947 0.1205 0.0700 0.0006 0.1821 0.1534 0.1451 0.0945 0.2447 0.4716 0.1447 0.0762 0.0019 0.2039 0.1626 0.1721 het 1235.44 122 3 57528503 . A G 1235.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.824;DP=122;Dels=0.00;FS=4.478;HRun=0;HaplotypeScore=2.9932;MQ=58.05;MQ0=0;MQRankSum=0.023;QD=10.13;ReadPosRankSum=-1.080;VQSLOD=4.8394;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,50:122:99:1265,0,2040 3 57542173 57542173 C T exonic PDE12 nonsynonymous SNV PDE12:NM_001322176:exon1:c.C67T:p.R23W,PDE12:NM_001322177:exon1:c.C67T:p.R23W,PDE12:NM_177966:exon1:c.C67T:p.R23W 0.39 0.14 0.45 0.43 0.47 0.54 0.4723 0.2135 0.4521 0.4697 0.5152 0.4824 0.4940 0.5658 0.35 0.18 0.44 0.34 0.34 rs2241988 COSM4158255 1(thyroid) . . . . . . . . . . . 0.059 0.531 T 0.946 0.600 P 0.249 0.436 B 0.020 0.271 N 0.991 0.241 P 1.245 0.315 L 1.73 0.264 T -0.7 0.208 N 0.088 0.084 -0.889 0.490 T 0.000 0.000 T . . . 3.586 0.488 23.2 0.993 0.585 0.872 0.464 D c 0.216 0.224 1.0 0.983 0.442 0.072 0 3.66 0.409 4.548 0.602 0.935 0.490 1.000 0.715 0.313 0.239 10.908 0.461 . ENSG00000168374.6|ENSG00000174844.10 Cells_Transformed_fibroblasts|Thyroid 0.4555 0.1801 0.4428 0.5749 0.4451 0.4883 0.4516 0.4829 0.5553 0.3806 0.1921 0.4189 0.5828 0.4260 0.4768 0.4517 0.4571 het 866.71 62 3 57542173 . C T 866.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9279;MQ=60.00;MQ0=0;MQRankSum=-0.141;QD=13.98;ReadPosRankSum=-0.296;VQSLOD=5.4255;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,31:62:99:897,0,903 3 58081888 58081888 T C exonic FLNB synonymous SNV FLNB:NM_001164317:exon6:c.T927C:p.S309S,FLNB:NM_001164318:exon6:c.T927C:p.S309S,FLNB:NM_001164319:exon6:c.T927C:p.S309S,FLNB:NM_001457:exon6:c.T927C:p.S309S 0.64 0.58 0.58 0.98 0.37 0.7 0.4647 0.5387 0.6978 0.9761 0.3698 0.3246 0.4426 0.5923 0.4 0.53 0.32 0.63 0.35 rs1522384 COSM5019479;COSM5019480;COSM5019478 1(haematopoietic_and_lymphoid_tissue);11(soft_tissue) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000248165.2|RCV000367630.1 MedGen|MedGen CN169374|CN239400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4668 0.5348 0.6716 0.2875 0.9753 0.3594 0.3254 0.4124 0.5815 0.4389 0.5321 0.6313 0.2267 0.9704 0.3560 0.3418 0.4114 het 1448.13 124 3 58081888 . T C 1448.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.085;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.53;MQ0=0;MQRankSum=0.605;QD=11.68;ReadPosRankSum=-0.290;VQSLOD=6.7666;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,61:124:99:1478,0,1518 3 58109162 58109162 G A exonic FLNB nonsynonymous SNV FLNB:NM_001164317:exon21:c.G3469A:p.D1157N,FLNB:NM_001164318:exon21:c.G3469A:p.D1157N,FLNB:NM_001164319:exon21:c.G3469A:p.D1157N,FLNB:NM_001457:exon21:c.G3469A:p.D1157N 0.55 0.48 0.47 0.92 0.28 0.58 0.3732 0.4263 0.5549 0.9129 0.2632 0.2470 0.3108 0.4855 0.3 0.41 0.24 0.55 0.3 rs1131356 COSM4158258;COSM4158257;COSM4158256 9(soft_tissue);1(thyroid) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000250004.3|RCV000333788.1 MedGen|MedGen CN169374|CN239400 . . . . . . 0.056 0.381 T 1.0 0.899 D 0.985 0.916 D 0.000 0.843 D 0.000 0.588 P 2.335 0.672 M -1.96 0.851 D -4.08 0.747 D 0.056 0.075 -0.962 0.388 T 0.000 0.000 T . . . 5.518 0.750 26.3 0.998 0.894 0.991 0.915 D c 0.622 0.554 1.000 0.747 0.719 0.830 0 5.08 0.682 10.003 0.997 1.048 0.713 1.000 0.715 0.566 0.282 15.223 0.729 Immunoglobulin E-set|Immunoglobulin-like fold ENSG00000136068.10|ENSG00000244161.1 Thyroid|Thyroid 0.3749 0.4195 0.5392 0.2397 0.9146 0.2577 0.2463 0.3223 0.4730 0.3399 0.4168 0.5155 0.1954 0.9127 0.2523 0.2494 0.2967 het 1894.55 154 3 58109162 . G A 1894.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.167;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4909;MQ=58.86;MQ0=0;MQRankSum=0.031;QD=12.30;ReadPosRankSum=-0.689;VQSLOD=6.2726;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,73:154:99:1925,0,1996 3 58112440 58112440 A G exonic FLNB synonymous SNV FLNB:NM_001164317:exon24:c.A4173G:p.A1391A,FLNB:NM_001164318:exon24:c.A4173G:p.A1391A,FLNB:NM_001164319:exon24:c.A4173G:p.A1391A,FLNB:NM_001457:exon24:c.A4173G:p.A1391A 0.83 0.94 0.76 1. 0.62 0.79 0.7079 0.9053 0.7887 0.9990 0.5891 0.6247 0.6795 0.7596 0.73 0.89 0.64 0.88 0.66 rs2362903 COSM4158260;COSM4158259;COSM4158261 1(breast);1(thyroid) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000242336.2|RCV000296871.1 MedGen|MedGen CN169374|CN239400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7049 0.9055 0.7739 0.6620 0.9990 0.5884 0.6251 0.6920 0.7548 0.7197 0.8905 0.7572 0.6556 0.9988 0.5849 0.6246 0.6609 hom 4274.92 142 3 58112440 . A G 4274.92 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.16;MQ0=0;QD=30.11;VQSLOD=9.0120;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:142:99:4274,334,0 3 58112488 58112488 C T exonic FLNB synonymous SNV FLNB:NM_001164317:exon24:c.C4221T:p.P1407P,FLNB:NM_001164318:exon24:c.C4221T:p.P1407P,FLNB:NM_001164319:exon24:c.C4221T:p.P1407P,FLNB:NM_001457:exon24:c.C4221T:p.P1407P 0.65 0.79 0.49 0.97 0.28 0.62 0.4091 0.7248 0.5732 0.9741 0.2670 0.2482 0.3400 0.5074 0.4 0.71 0.25 0.65 0.16 rs2362904 COSM4158263;COSM4158264;COSM4158262 9(soft_tissue);1(thyroid) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000247133.2|RCV000277932.1 MedGen|MedGen CN169374|CN239400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4046 0.7254 0.5556 0.2451 0.9749 0.2614 0.2474 0.3417 0.4949 0.4270 0.7079 0.5322 0.2020 0.9696 0.2582 0.2507 0.3157 het 958.87 75 3 58112488 . C T 958.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.394;DP=75;Dels=0.00;FS=3.042;HRun=0;HaplotypeScore=2.9487;MQ=60.00;MQ0=0;MQRankSum=0.370;QD=12.78;ReadPosRankSum=1.142;VQSLOD=5.9686;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,34:75:99:989,0,1037 3 58118555 58118555 G A exonic FLNB nonsynonymous SNV FLNB:NM_001164318:exon26:c.G4411A:p.V1471M,FLNB:NM_001164319:exon26:c.G4411A:p.V1471M,FLNB:NM_001457:exon26:c.G4411A:p.V1471M,FLNB:NM_001164317:exon27:c.G4504A:p.V1502M 0.61 0.64 0.48 0.97 0.28 0.61 0.3952 0.5964 0.5631 0.9736 0.2672 0.2469 0.3289 0.5016 0.36 0.58 0.25 0.6 0.29 rs12632456 COSM4158266;COSM4158265;COSM4158267 1(breast);10(soft_tissue);1(pancreas);1(thyroid) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000247641.2|RCV000271883.1 MedGen|MedGen CN169374|CN239400 . . . . . . 0.057 0.384 T 0.877 0.462 P 0.37 0.434 B 0.001 0.429 D 0.051 0.407 P 2.085 0.579 M -2.37 0.882 D -2.21 0.501 N 0.087 0.160 -0.985 0.338 T 0.000 0.000 T . . . 5.643 0.769 26.6 0.998 0.925 0.933 0.575 D c 0.097 0.091 0.973 0.294 0.707 0.730 0 2.75 0.313 3.035 0.492 0.135 0.219 1.000 0.715 0.218 0.221 5.588 0.165 Immunoglobulin E-set|Immunoglobulin-like fold ENSG00000136068.10|ENSG00000244161.1 Thyroid|Thyroid 0.3939 0.5951 0.5472 0.2441 0.9747 0.2613 0.2465 0.3341 0.4904 0.3936 0.5909 0.5227 0.2020 0.9691 0.2582 0.2504 0.3106 het 1356.01 115 3 58118555 . G A 1356.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.834;DP=115;Dels=0.00;FS=1.508;HRun=0;HaplotypeScore=3.4530;MQ=59.47;MQ0=0;MQRankSum=0.070;QD=11.79;ReadPosRankSum=0.994;VQSLOD=6.3412;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,55:115:99:1386,0,1477 3 58154177 58154177 G A exonic FLNB synonymous SNV FLNB:NM_001164319:exon43:c.G7137A:p.S2379S,FLNB:NM_001164318:exon44:c.G7176A:p.S2392S,FLNB:NM_001457:exon44:c.G7209A:p.S2403S,FLNB:NM_001164317:exon45:c.G7302A:p.S2434S 0.059 0.055 0.11 0.002 0.095 0.052 0.0898 0.0622 0.0966 0.0009 0.1513 0.1040 0.1045 0.0662 0.095 0.065 0.11 0.065 0.082 rs13079906 COSM5019180;COSM5019179 10(soft_tissue) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000254214.2|RCV000292846.1 MedGen|MedGen CN169374|CN239400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0896 0.0598 0.0900 0.0657 0.0005 0.1454 0.1049 0.0921 0.0653 0.0945 0.0601 0.0873 0.0662 0 0.1491 0.1111 0.1235 het 666.90 79 3 58154177 . G A 666.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.171;DP=79;Dels=0.00;FS=3.613;HRun=0;HaplotypeScore=1.5983;MQ=58.33;MQ0=0;MQRankSum=0.822;QD=8.44;ReadPosRankSum=0.894;VQSLOD=4.9482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,27:79:99:697,0,1299 3 58154327 58154327 C T exonic FLNB synonymous SNV FLNB:NM_001164319:exon43:c.C7287T:p.S2429S,FLNB:NM_001164318:exon44:c.C7326T:p.S2442S,FLNB:NM_001457:exon44:c.C7359T:p.S2453S,FLNB:NM_001164317:exon45:c.C7452T:p.S2484S 0.57 0.57 0.46 0.92 0.27 0.6 0.3852 0.5212 0.5390 0.9155 0.2561 0.2548 0.3139 0.4969 0.34 0.5 0.25 0.58 0.29 rs8640 COSM5019470;COSM5019471 10(soft_tissue) Benign|Likely benign not_specified|FLNB-Related_Spectrum_Disorders RCV000243570.2|RCV000395617.1 MedGen|MedGen CN169374|CN239400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3842 0.5167 0.5272 0.2276 0.9165 0.2531 0.2558 0.3287 0.4850 0.3704 0.5145 0.4904 0.1788 0.9137 0.2464 0.2581 0.3037 het 1354.81 123 3 58154327 . C T 1354.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.658;DP=123;Dels=0.00;FS=2.322;HRun=0;HaplotypeScore=1.3302;MQ=59.20;MQ0=0;MQRankSum=0.206;QD=11.01;ReadPosRankSum=0.983;VQSLOD=6.6927;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,56:123:99:1385,0,1710 3 58191244 58191244 G A exonic DNASE1L3 nonsynonymous SNV DNASE1L3:NM_004944:exon3:c.C274T:p.R92W 0.0002 . . . 0.001 . 0.0001 0 0 0 0 0.0002 0 0.0001 0.0005 . 0.0008 . . rs141477807 . . . . . . . . . . . . . 0.008 0.784 D 1.0 0.899 D 0.999 0.971 D 0.000 0.629 D 1.000 0.810 D 3.31 0.908 M 0.26 0.593 T -5.5 0.858 D 0.502 0.964 0.066 0.835 D 0.475 0.799 T 0.055 0.663 D 7.498 0.952 34 0.999 0.988 0.838 0.426 D c 0.792 0.728 1.000 0.517 0.615 0.372 0 5.77 0.910 1.064 0.300 1.041 0.660 0.956 0.331 0.994 0.587 14.289 0.657 Endonuclease/exonuclease/phosphatase . . 0.0002 0 5.956e-05 0 0 0 0.0003 0 6.497e-05 9.684e-05 0 0 0 0 0 0.0002 0 het 3161.68 248 3 58191244 . G A 3161.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.733;DP=248;DS;Dels=0.00;FS=2.138;HRun=1;HaplotypeScore=5.7389;MQ=59.22;MQ0=0;MQRankSum=0.433;QD=12.75;ReadPosRankSum=0.674;VQSLOD=3.5741;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,124:248:99:3192,0,3258 3 58416538 58416538 T C exonic PDHB synonymous SNV PDHB:NM_001315536:exon5:c.A381G:p.R127R,PDHB:NM_000925:exon6:c.A435G:p.R145R 0.98 0.95 0.99 1. 1. 1. 0.9948 0.9457 0.9967 0.9999 0.9995 0.9997 0.9989 1 0.98 0.94 1. 0.98 1. rs4264746 . . Benign not_specified RCV000127406.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.996 0.9469 0.9968 1 0.9999 0.9998 0.9996 0.9980 1 0.9847 0.9478 0.9928 1 1 1 0.9994 0.9980 hom 5567.03 164 3 58416538 . T C 5567.03 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7472;MQ=59.60;MQ0=0;QD=33.95;VQSLOD=9.1258;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:164:99:5567,430,0 3 58552329 58552329 C G exonic FAM107A nonsynonymous SNV FAM107A:NM_001076778:exon4:c.G421C:p.E141Q,FAM107A:NM_001282713:exon4:c.G505C:p.E169Q,FAM107A:NM_001282714:exon5:c.G514C:p.E172Q,FAM107A:NM_007177:exon5:c.G421C:p.E141Q 0.11 0.26 0.11 0.004 0.074 0.051 0.0858 0.2362 0.0855 0.0102 0.1022 0.0757 0.0907 0.0652 0.12 0.22 0.066 0.12 0.057 rs11539086 . . . . . . . . . . . . . 0.058 0.496 T 0.001 0.715 B 0.006 0.754 B 0.000 0.629 D 0.000 0.810 P 1.935 0.520 L 1.24 0.387 T -1.0 0.264 N 0.035 0.025 -1.188 0.003 T 0.000 0.000 T . . . 1.764 0.273 14.77 0.998 0.846 0.977 0.762 D c -0.064 -0.045 1.000 0.747 0.651 0.465 0 5.07 0.680 2.883 0.480 0.852 0.362 0.990 0.367 0.027 0.143 18.421 0.905 . . . 0.0817 0.2368 0.0846 0.0742 0.0087 0.1011 0.0720 0.0832 0.0654 0.1213 0.2337 0.0731 0.0828 0.0111 0.0974 0.0791 0.0881 hom 2849.68 94 3 58552329 . C G 2849.68 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.658;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5717;MQ=59.36;MQ0=0;MQRankSum=-0.726;QD=30.32;ReadPosRankSum=1.285;VQSLOD=8.6564;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,93:94:99:2883,198,0 3 62118299 62118299 A C exonic PTPRG synonymous SNV PTPRG:NM_002841:exon6:c.A639C:p.A213A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.219e-05 0 0 0 0 0 2.687e-05 0 0 . . . . . . . . het 2703.94 249 3 62118299 . A C 2703.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.106;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2853;MQ=59.23;MQ0=0;MQRankSum=0.733;QD=10.86;ReadPosRankSum=-0.260;VQSLOD=3.0955;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:145,104:249:99:2734,0,4004 3 62229553 62229553 C T exonic PTPRG synonymous SNV PTPRG:NM_002841:exon15:c.C2448T:p.I816I 0.98 0.92 0.99 1. 1. 1. 0.9935 0.9295 0.9974 1 1 0.9997 0.9989 0.9998 0.98 0.93 1. 0.79 0.98 rs1352882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9951 0.9324 0.9965 1 1 1 0.9997 0.9965 0.9998 0.9817 0.9359 0.9988 1 1 1 0.9998 0.9980 hom 2471.73 86 3 62229553 . C T 2471.73 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6006;MQ=59.57;MQ0=0;QD=28.74;VQSLOD=8.6210;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2505,202,0 3 63968083 63968083 A G exonic ATXN7 nonsynonymous SNV ATXN7:NM_001128149:exon3:c.A539G:p.N180S,ATXN7:NM_001177387:exon6:c.A974G:p.N325S,ATXN7:NM_000333:exon7:c.A974G:p.N325S 0.02 0.061 0.0086 . 0.012 0.002 0.0140 0.0665 0.0104 0.0001 0.0048 0.0120 0.0178 0.0041 0.026 0.06 0.011 0.022 0.016 rs61736574 COSM5904746;COSM5904747 1(skin) . . . . . . . . . . . 0.708 0.046 T 0.0 0.026 B 0.001 0.093 B 0.159 0.177 N 0.992 0.239 N -0.28 0.037 N 2.63 0.129 T 0.32 0.056 N 0.015 0.006 -0.986 0.336 T 0.002 0.006 T . . . -1.992 0.008 0.001 0.508 0.044 0.354 0.251 N c -1.228 -1.119 1.000 0.489 0.615 0.372 0 -4.65 0.031 0.678 0.248 -0.576 0.046 0.995 0.385 0.967 0.454 8.553 0.324 . . . 0.0115 0.0593 0.0083 0.0206 0 0.0035 0.0107 0.0127 0.0036 0.0213 0.0567 0.0155 0.0066 0 0.0049 0.0081 0.0132 het 382.47 22 3 63968083 . A G 382.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.868;DP=22;Dels=0.00;FS=2.643;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.467;QD=17.38;ReadPosRankSum=-0.534;VQSLOD=5.7499;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:412,0,268 3 63981424 63981424 A G exonic ATXN7 synonymous SNV ATXN7:NM_001128149:exon8:c.A1491G:p.Q497Q,ATXN7:NM_001177387:exon11:c.A1926G:p.Q642Q,ATXN7:NM_000333:exon12:c.A1926G:p.Q642Q 0.021 0.063 0.0086 0.001 0.012 0.002 0.0118 0.0575 0.0083 0.0005 0.0042 0.0099 0.0167 0.0037 0.026 0.056 0.011 0.033 0.016 rs1053339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0116 0.0594 0.0080 0.0206 0.0003 0.0035 0.0107 0.0131 0.0036 0.0214 0.0567 0.0155 0.0066 0 0.0049 0.0083 0.0133 het 3048.75 250 3 63981424 . A G 3048.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.941;DP=250;DS;Dels=0.00;FS=1.020;HRun=0;HaplotypeScore=7.1999;MQ=59.50;MQ0=0;MQRankSum=-0.637;QD=12.19;ReadPosRankSum=-0.558;VQSLOD=4.5764;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:3079,0,3845 3 63982082 63982082 G A exonic ATXN7 nonsynonymous SNV ATXN7:NM_001128149:exon8:c.G2149A:p.V717M,ATXN7:NM_001177387:exon11:c.G2584A:p.V862M,ATXN7:NM_000333:exon12:c.G2584A:p.V862M 0.44 0.64 0.34 0.46 0.33 0.32 0.3477 0.5754 0.2933 0.4951 0.3130 0.3203 0.3531 0.2983 0.39 0.56 0.31 0.33 0.37 rs3774729 . . Likely benign not_specified RCV000116488.2 MedGen CN169374 . . . . . . 1.0 0.024 T 0.006 0.184 B 0.003 0.080 B 0.002 0.367 N 0.999 0.215 P -0.785 0.016 N 0.87 0.464 T 0.45 0.131 N 0.032 0.303 -0.951 0.408 T 0.000 0.000 T . . . 0.466 0.139 7.162 0.171 0.005 0.115 0.165 N c -1.200 -1.072 0.717 0.229 0.707 0.730 0 -1.61 0.079 -0.264 0.086 0.244 0.267 0.000 0.063 0.999 0.750 9.290 0.367 . . . 0.3435 0.5834 0.2953 0.4008 0.4952 0.3151 0.3141 0.3523 0.2997 0.4131 0.5806 0.3309 0.3567 0.4981 0.3448 0.3303 0.3824 het 2831.99 227 3 63982082 . G A 2831.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.986;DP=227;Dels=0.00;FS=0.491;HRun=0;HaplotypeScore=4.5297;MQ=59.29;MQ0=0;MQRankSum=-0.506;QD=12.48;ReadPosRankSum=-0.724;VQSLOD=5.7678;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,121:227:99:2862,0,2584 3 64133350 64133350 A G exonic PRICKLE2 synonymous SNV PRICKLE2:NM_198859:exon7:c.T816C:p.D272D 0.98 0.94 1. 1. 1. 1. 0.9945 0.9546 0.9950 1 0.9995 0.9981 0.9933 0.9999 0.98 0.96 1. 0.97 0.97 rs27673 . . Likely benign|Benign not_specified|Progressive_myoclonic_epilepsy RCV000118166.2|RCV000323664.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0751778:310370:ORPHA98261:267581004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9952 0.9530 0.9955 0.9999 1 0.9992 0.9977 0.9947 0.9996 0.9879 0.9612 0.9964 1 1 0.9991 0.9983 0.9949 hom 4368.98 138 3 64133350 . A G 4368.98 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6476;MQ=59.23;MQ0=0;QD=31.66;VQSLOD=7.7835;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4368,352,0 3 64142859 64142859 C T exonic PRICKLE2 synonymous SNV PRICKLE2:NM_198859:exon5:c.G579A:p.P193P 0.18 0.29 0.13 0.012 0.25 0.19 0.2022 0.2689 0.0927 0.0058 0.3054 0.2315 0.2295 0.1787 0.24 0.27 0.23 0.26 0.17 rs17720698 COSM3760216 1(large_intestine) other|Benign not_specified|Progressive_myoclonic_epilepsy RCV000118060.6|RCV000338421.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0751778:310370:ORPHA98261:267581004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2010 0.2714 0.1070 0.2251 0.0057 0.3116 0.2316 0.1949 0.1808 0.2549 0.2753 0.1325 0.2219 0.0080 0.3310 0.2581 0.2751 het 1110.77 108 3 64142859 . C T 1110.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.283;DP=108;Dels=0.00;FS=9.561;HRun=0;HaplotypeScore=2.5655;MQ=59.31;MQ0=0;MQRankSum=1.049;QD=10.28;ReadPosRankSum=-1.325;VQSLOD=4.3847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,44:108:99:1141,0,1659 3 64587818 64587818 G A exonic ADAMTS9 synonymous SNV ADAMTS9:NM_001318781:exon25:c.C3735T:p.I1245I,ADAMTS9:NM_182920:exon26:c.C3819T:p.I1273I 0.059 0.13 0.05 0.002 0.071 0.019 0.0632 0.1343 0.0254 0.0001 0.0951 0.0739 0.0441 0.0228 0.094 0.14 0.072 0.022 0.074 rs6771712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0614 0.1389 0.0296 0.0485 0.0002 0.0913 0.0753 0.0583 0.0245 0.0890 0.1318 0.0299 0.0497 0 0.0862 0.0798 0.0684 het 2716.04 193 3 64587818 . G A 2716.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.608;DP=193;DS;Dels=0.00;FS=1.799;HRun=1;HaplotypeScore=0.7340;MQ=59.23;MQ0=0;MQRankSum=-0.780;QD=14.07;ReadPosRankSum=-0.884;VQSLOD=6.3848;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,99:193:99:2746,0,2370 3 66419942 66419942 A G exonic SLC25A26 synonymous SNV SLC25A26:NM_001164796:exon7:c.A345G:p.A115A,SLC25A26:NM_001350992:exon7:c.A345G:p.A115A,SLC25A26:NM_001350991:exon8:c.A609G:p.A203A,SLC25A26:NM_001350993:exon9:c.A345G:p.A115A,SLC25A26:NM_173471:exon9:c.A609G:p.A203A 0.099 0.036 0.11 0.087 0.18 0.097 0.1761 0.0716 0.0948 0.0890 0.2266 0.2242 0.2035 0.1241 0.15 0.066 0.19 0.087 . rs1129179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1462 0.0557 0.0819 0.1180 0.0834 0.1987 0.1901 0.1426 0.1078 0.1495 0.0659 0.0897 0.1159 0.0900 0.2030 0.1951 0.1656 het 221.39 25 3 66419942 . A G 221.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.420;DP=25;Dels=0.00;FS=3.628;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;MQRankSum=-1.496;QD=8.86;ReadPosRankSum=-1.985;VQSLOD=3.3245;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:251,0,371 3 66419956 66419956 C T exonic SLC25A26 nonsynonymous SNV SLC25A26:NM_001164796:exon7:c.C359T:p.T120M,SLC25A26:NM_001350992:exon7:c.C359T:p.T120M,SLC25A26:NM_001350991:exon8:c.C623T:p.T208M,SLC25A26:NM_001350993:exon9:c.C359T:p.T120M,SLC25A26:NM_173471:exon9:c.C623T:p.T208M 0.68 0.84 0.62 0.77 0.48 0.63 0.5875 0.7940 0.7056 0.7822 0.5556 0.4995 0.5789 0.6111 0.56 0.78 0.44 0.74 . rs13874 COSM4158300 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.810 P -2.695 0.000 N -1.19 0.784 T 5.3 0.000 N 0.098 0.448 -0.919 0.457 T 0.000 0.000 T . . . 1.414 0.233 12.86 0.085 0.001 0.022 0.064 N c -1.037 -0.699 1.000 0.747 0.732 0.924 0 5.49 0.809 5.075 0.640 0.090 0.195 1.000 0.715 0.858 0.358 11.481 0.494 Mitochondrial carrier domain ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13|ENSG00000144741.13 Artery_Aorta|Artery_Tibial|Colon_Transverse|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Stomach|Testis|Thyroid 0.5412 0.7882 0.6548 0.3901 0.7799 0.5208 0.4429 0.5134 0.5839 0.5844 0.7808 0.6328 0.4305 0.7868 0.5266 0.4651 0.5399 het 240.57 25 3 66419956 . C T 240.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.804;DP=25;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=0.9933;MQ=59.07;MQ0=0;MQRankSum=-0.860;QD=9.62;ReadPosRankSum=0.250;VQSLOD=6.2852;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,10:25:99:271,0,389 3 66430870 66430870 G A exonic LRIG1 synonymous SNV LRIG1:NM_015541:exon19:c.C3099T:p.S1033S 0.044 0.003 0.053 0.018 0.088 0.077 0.0593 0.0136 0.0422 0.0180 0.0522 0.0710 0.0562 0.0772 0.052 0.016 0.071 0.033 0.033 rs61754218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0580 0.0115 0.0442 0.0469 0.0184 0.0483 0.0721 0.0600 0.0783 0.0478 0.0153 0.0477 0.0430 0.0154 0.0552 0.0681 0.0540 het 3124.28 230 3 66430870 . G A 3124.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.093;DP=230;Dels=0.00;FS=1.045;HRun=0;HaplotypeScore=4.2770;MQ=59.33;MQ0=0;MQRankSum=0.488;QD=13.58;ReadPosRankSum=1.159;VQSLOD=5.6551;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,109:230:99:3154,0,3528 3 66433676 66433676 A G exonic LRIG1 synonymous SNV LRIG1:NM_015541:exon15:c.T2221C:p.L741L 0.69 0.72 0.64 0.8 0.6 0.68 0.6227 0.7122 0.6856 0.8243 0.5810 0.5685 0.6046 0.6537 0.61 0.7 0.56 0.73 0.57 rs900171 COSM4158303 1(breast);2(thyroid) Benign not_specified RCV000454580.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6193 0.7148 0.6718 0.4748 0.8230 0.5828 0.5714 0.6017 0.6497 0.6350 0.7217 0.6563 0.5364 0.8248 0.5948 0.5767 0.5982 het 2189.23 144 3 66433676 . A G 2189.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.435;DP=144;Dels=0.00;FS=0.638;HRun=1;HaplotypeScore=7.7975;MQ=59.36;MQ0=0;MQRankSum=0.985;QD=15.20;ReadPosRankSum=-0.823;VQSLOD=4.1522;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,76:144:99:2219,0,2021 3 66444615 66444615 G A exonic LRIG1 synonymous SNV LRIG1:NM_015541:exon12:c.C1317T:p.S439S 0.28 0.51 0.36 0.058 0.24 0.19 0.2686 0.4719 0.3946 0.0829 0.3194 0.2352 0.27 0.2573 0.31 0.45 0.23 0.29 0.21 rs6793110 COSM149417 1(stomach) Benign not_specified RCV000455658.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2587 0.4641 0.3747 0.1424 0.0784 0.3081 0.2338 0.2372 0.2176 0.3001 0.4584 0.3337 0.1633 0.0784 0.2987 0.2370 0.2413 het 515.75 48 3 66444615 . G A 515.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.291;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;MQRankSum=-2.161;QD=10.74;ReadPosRankSum=-0.977;VQSLOD=5.2634;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,21:48:99:546,0,666 3 69082708 69082708 C G exonic TMF1 nonsynonymous SNV TMF1:NM_007114:exon10:c.G2392C:p.D798H 0.057 0.011 0.076 0.001 0.15 0.064 0.1063 0.0226 0.0622 0.0002 0.0870 0.1464 0.1024 0.0883 0.11 0.024 0.15 0.087 0.24 rs1532918 COSM3760218 1(large_intestine) . . . . . . . . . . . 0.014 0.531 D 1.0 0.899 D 0.995 0.818 D 0.000 0.629 D 0.000 0.588 P 2.24 0.636 M 2.15 0.193 T -3.11 0.636 D 0.695 0.700 -1.265 0.000 T 0.001 0.003 T . . . 6.556 0.902 31 0.996 0.769 0.980 0.788 D c 0.851 0.856 1.0 0.983 0.731 0.878 0 5.83 0.930 7.905 0.864 0.932 0.445 1.000 0.715 1.000 0.888 20.134 0.980 . ENSG00000163378.9 Cells_Transformed_fibroblasts 0.1045 0.0228 0.0651 0.1862 5.841e-05 0.0854 0.1447 0.1126 0.0872 0.0872 0.0275 0.0704 0.2252 0.0019 0.0753 0.1308 0.1092 het 885.81 79 3 69082708 . C G 885.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DP=79;Dels=0.00;FS=0.858;HRun=0;HaplotypeScore=3.3471;MQ=58.09;MQ0=0;MQRankSum=0.663;QD=11.21;ReadPosRankSum=-1.246;VQSLOD=5.0624;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,35:79:99:916,0,1041 3 69230061 69230061 G A exonic FRMD4B nonsynonymous SNV FRMD4B:NM_015123:exon21:c.C2840T:p.S947L 0.77 0.61 0.88 0.64 0.99 0.81 0.9032 0.6481 0.8890 0.5950 0.9924 0.9918 0.9344 0.8284 0.88 0.65 0.99 0.79 . rs9831516 COSM4415327;COSM4415326 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.103 0.305 T 1.0 0.899 D 0.994 0.807 D 0.000 0.843 D 0.000 0.588 P 2.395 0.694 M -2.21 0.870 D -1.5 0.368 N 0.365 0.635 -0.908 0.471 T 0.000 0.000 T . . . 5.993 0.824 27.8 0.997 0.801 0.994 0.957 D c 0.844 0.846 1.0 0.983 0.507 0.198 0 5.83 0.930 9.602 0.976 0.998 0.613 1.000 0.715 0.999 0.750 20.114 0.979 . . . 0.9047 0.6410 0.8883 0.9911 0.5949 0.9918 0.9916 0.9469 0.8207 0.8687 0.6462 0.9019 0.9934 0.5774 0.9934 0.9903 0.9511 hom 5502.45 182 3 69230061 . G A 5502.45 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5313;MQ=59.22;MQ0=0;QD=30.23;VQSLOD=9.2352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5502,421,0 3 69230801 69230801 G A exonic FRMD4B synonymous SNV FRMD4B:NM_015123:exon21:c.C2100T:p.H700H 0.77 0.61 0.88 0.64 0.99 0.81 0.9031 0.6505 0.8893 0.6001 0.9924 0.9918 0.9350 0.8224 0.88 0.66 0.99 0.79 . rs9836305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9058 0.6430 0.8883 0.9913 0.5959 0.9920 0.9916 0.9470 0.8205 0.8692 0.6479 0.8998 0.9934 0.5771 0.9931 0.9903 0.9519 hom 1278.57 37 3 69230801 . G A 1278.57 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=34.56;VQSLOD=9.1655;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1312,108,0 3 69245454 69245454 T C exonic FRMD4B nonsynonymous SNV FRMD4B:NM_015123:exon14:c.A1186G:p.T396A 0.97 0.89 0.99 1. 1. 1. 0.9914 0.8997 0.9968 1 1 0.9999 0.9944 0.9998 0.97 0.9 1. 0.99 . rs9310141 . . . . . . . . . . . . . 0.582 0.104 T 0.0 0.026 B 0.0 0.013 B 0.022 0.268 N 0.997 0.228 P -1.265 0.007 N -1.44 0.808 T 0.32 0.056 N 0.027 0.075 -0.952 0.406 T 0.000 0.000 T . . . 2.091 0.312 16.80 0.956 0.268 0.037 0.089 N c -0.740 -0.504 1.000 0.747 0.722 0.854 0 6.07 0.987 1.720 0.374 0.040 0.155 0.251 0.246 0.958 0.437 15.696 0.772 PH domain-like . . 0.9928 0.8975 0.9959 1 1 1 0.9998 0.9953 0.9996 0.9697 0.8942 0.9940 1 1 1 0.9997 0.9939 hom 7091.62 210 3 69245454 . T C 7091.62 Mask AC=2;AF=1.00;AN=2;DP=210;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.27;MQ0=0;QD=33.77;VQSLOD=9.4653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:7091,548,0 3 69246152 69246152 A G exonic FRMD4B synonymous SNV FRMD4B:NM_015123:exon13:c.T991C:p.L331L 0.75 0.54 0.92 0.66 0.95 0.79 0.8717 0.5624 0.9477 0.6211 0.9525 0.9464 0.8906 0.7972 0.83 0.57 0.95 0.78 . rs13059488 COSM4415415;COSM4415416 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8809 0.5546 0.9452 0.9506 0.6272 0.9516 0.9467 0.9145 0.7967 0.8168 0.5617 0.9475 0.9570 0.6056 0.9516 0.9409 0.8988 hom 1637.79 49 3 69246152 . A G 1637.79 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.42;VQSLOD=13.6724;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1671,129,0 3 72971366 72971366 G A exonic GXYLT2 stopgain GXYLT2:NM_001080393:exon3:c.G480A:p.W160X 0.0002 . . . 0.001 . . . . . . . . . . . . . . rs558244198 . . . . . . . . . . . . . . . . . . . . . . 0.000 0.843 D 1 0.810 A . . . . . . . . . . . . . . . . . . . . 13.621 0.992 42 0.997 0.836 0.997 0.983 D c 1.018 0.913 1.000 0.747 0.615 0.372 0 5.78 0.914 8.972 0.929 1.048 0.713 1.000 0.715 0.997 0.653 19.632 0.957 Nucleotide-diphospho-sugar transferases . . . . . . . . . . . . . . . . . . . het 3026.67 245 3 72971366 . G A 3026.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.989;DP=245;DS;Dels=0.00;FS=1.553;HRun=0;HaplotypeScore=2.9912;MQ=59.41;MQ0=0;MQRankSum=0.069;QD=12.35;ReadPosRankSum=0.111;VQSLOD=4.9660;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:125,120:245:99:3057,0,3450 3 73433369 73433369 G A exonic PDZRN3 nonsynonymous SNV PDZRN3:NM_001303139:exon8:c.C1442T:p.A481V,PDZRN3:NM_001303140:exon8:c.C1319T:p.A440V,PDZRN3:NM_001303141:exon8:c.C1514T:p.A505V,PDZRN3:NM_001303142:exon8:c.C1499T:p.A500V,PDZRN3:NM_015009:exon10:c.C2348T:p.A783V 0.27 0.064 0.34 0.44 0.35 0.24 0.3232 0.1013 0.3311 0.4634 0.4623 0.3408 0.3664 0.2539 0.26 0.11 0.33 0.26 0.25 rs3205537 COSM4158318;COSM4158319;COSM3760228 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.234 0.390 T 0.005 0.272 B 0.005 0.145 B 0.134 0.028 N 1.000 0.189 P 1.195 0.303 L 2.91 0.100 T -0.63 0.291 N 0.024 0.199 -0.903 0.477 T 0.000 0.000 T . . . 0.035 0.097 2.927 0.944 0.242 0.557 0.297 D c -0.464 -0.437 0.999 0.372 0.706 0.609 0 4.05 0.462 3.674 0.541 1.048 0.713 0.852 0.302 0.017 0.128 13.179 0.589 . . . 0.3314 0.0978 0.3358 0.3644 0.4657 0.4616 0.3334 0.3403 0.2552 0.2942 0.1091 0.3429 0.3433 0.4740 0.4507 0.3379 0.3650 het 777.71 76 3 73433369 . G A 777.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.632;DP=76;Dels=0.00;FS=3.263;HRun=0;HaplotypeScore=1.6006;MQ=58.59;MQ0=0;MQRankSum=0.233;QD=10.23;ReadPosRankSum=-0.277;VQSLOD=6.0641;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,34:76:99:808,0,1073 3 73433494 73433494 T C exonic PDZRN3 synonymous SNV PDZRN3:NM_001303139:exon8:c.A1317G:p.S439S,PDZRN3:NM_001303140:exon8:c.A1194G:p.S398S,PDZRN3:NM_001303141:exon8:c.A1389G:p.S463S,PDZRN3:NM_001303142:exon8:c.A1374G:p.S458S,PDZRN3:NM_015009:exon10:c.A2223G:p.S741S 0.36 0.13 0.43 0.54 0.47 0.31 0.4283 0.1753 0.4037 0.5785 0.5639 0.4658 0.4645 0.3192 0.36 0.18 0.46 0.36 0.34 rs13091636 COSM4158322;COSM4158320;COSM4158321 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4351 0.1717 0.4136 0.4544 0.5803 0.5710 0.4606 0.4502 0.3189 0.4000 0.1846 0.4306 0.4564 0.5916 0.5621 0.4589 0.4825 het 841.80 73 3 73433494 . T C 841.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.048;DP=73;Dels=0.00;FS=6.255;HRun=1;HaplotypeScore=2.5953;MQ=60.00;MQ0=0;MQRankSum=-0.061;QD=11.53;ReadPosRankSum=-0.447;VQSLOD=4.7269;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:872,0,1177 3 73453325 73453325 C T exonic PDZRN3 synonymous SNV PDZRN3:NM_001303139:exon2:c.G234A:p.V78V,PDZRN3:NM_001303140:exon2:c.G111A:p.V37V,PDZRN3:NM_001303141:exon2:c.G306A:p.V102V,PDZRN3:NM_001303142:exon2:c.G291A:p.V97V,PDZRN3:NM_015009:exon4:c.G1140A:p.V380V 0.6 0.48 0.63 0.84 0.56 0.55 0.5936 0.4910 0.6515 0.8472 0.6964 0.5666 0.5914 0.5528 0.53 0.5 0.55 0.67 0.59 rs2291463 COSM5618810;COSM5618811;COSM5618809 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5991 0.4861 0.6389 0.5322 0.8465 0.6971 0.5638 0.5928 0.5525 0.5891 0.5048 0.6151 0.5533 0.8540 0.7039 0.5803 0.6155 hom 3182.56 108 3 73453325 . C T 3182.56 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=29.47;VQSLOD=8.9377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3216,265,0 3 73453541 73453541 G A exonic PDZRN3 synonymous SNV PDZRN3:NM_001303139:exon2:c.C18T:p.N6N,PDZRN3:NM_001303141:exon2:c.C90T:p.N30N,PDZRN3:NM_001303142:exon2:c.C75T:p.N25N,PDZRN3:NM_015009:exon4:c.C924T:p.N308N 0.0024 . . . 0.0099 0.002 0.0048 0.0014 0.0016 0 0.0021 0.0072 0.0034 0.0028 0.0048 0.0018 0.0064 0.011 . rs61756474 COSM4783454;COSM4783455;COSM1425295 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0046 0.0011 0.0020 0.0087 0 0.0023 0.0074 0.0030 0.0023 0.0041 0.0014 0.0012 0.0099 0 0.0014 0.0067 0.0051 het 1599.99 127 3 73453541 . G A 1599.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.294;DP=127;Dels=0.00;FS=4.423;HRun=0;HaplotypeScore=0.8941;MQ=58.57;MQ0=0;MQRankSum=1.515;QD=12.50;ReadPosRankSum=1.370;VQSLOD=5.0109;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,59:127:99:1630,0,1628 3 78700901 78700901 G T exonic ROBO1 synonymous SNV ROBO1:NM_001145845:exon18:c.C2685A:p.T895T,ROBO1:NM_133631:exon18:c.C2685A:p.T895T,ROBO1:NM_002941:exon19:c.C2793A:p.T931T 0.22 0.17 0.22 0.22 0.26 0.24 0.2246 0.1790 0.1603 0.2189 0.2361 0.2371 0.2336 0.2437 0.22 0.17 0.24 0.25 . rs6795556 COSM3760252;COSM3760251;COSM3760249;COSM3760250 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2224 0.1759 0.1617 0.2791 0.2099 0.2336 0.2366 0.2320 0.2386 0.2105 0.1721 0.1885 0.2682 0.1900 0.2504 0.2258 0.2106 het 623.95 48 3 78700901 . G T 623.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.621;DP=48;Dels=0.00;FS=4.590;HRun=0;HaplotypeScore=0.7340;MQ=59.61;MQ0=0;MQRankSum=-1.424;QD=13.00;ReadPosRankSum=-0.846;VQSLOD=5.6648;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,23:48:99:654,0,744 3 78717343 78717343 C T exonic ROBO1 synonymous SNV ROBO1:NM_001145845:exon12:c.G1632A:p.S544S,ROBO1:NM_133631:exon12:c.G1632A:p.S544S,ROBO1:NM_002941:exon13:c.G1740A:p.S580S 0.28 0.43 0.24 0.22 0.25 0.21 0.2342 0.3981 0.1646 0.2198 0.2387 0.2325 0.2105 0.1993 0.28 0.37 0.24 0.35 . rs2271151 COSM3760254;COSM3760253;COSM3760255;COSM3760256 7(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2312 0.4061 0.1684 0.2375 0.2154 0.2375 0.2367 0.2315 0.1950 0.2710 0.3941 0.1957 0.2152 0.1836 0.2527 0.2227 0.2082 het 1135.61 89 3 78717343 . C T 1135.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DP=89;Dels=0.00;FS=4.961;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;MQRankSum=-0.546;QD=12.76;ReadPosRankSum=-0.464;VQSLOD=5.5386;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,44:89:99:1166,0,1197 3 81643167 81643167 T C exonic GBE1 nonsynonymous SNV GBE1:NM_000158:exon8:c.A1000G:p.I334V 0.98 1. 0.99 1. 0.97 0.96 0.9728 0.9949 0.9917 0.9997 0.9603 0.9678 0.9753 0.9618 0.98 1. 0.97 0.99 . rs2172397 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.629 N 0.999 0.214 P -3.145 0.000 N -1.21 0.787 T 0.95 0.015 N 0.193 0.236 -0.923 0.451 T 0.000 0.000 T . . . 0.541 0.146 7.739 0.488 0.040 0.209 0.210 N c -0.884 -0.520 1.000 0.747 0.732 0.924 0 5.65 0.868 5.820 0.687 0.040 0.155 1.000 0.715 0.999 0.750 14.493 0.671 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.9753 0.9955 0.9905 0.9877 0.9999 0.9589 0.9691 0.9782 0.9642 0.9732 0.9951 0.9928 0.9801 1 0.9542 0.9615 0.9633 hom 327.69 11 3 81643167 . T C 327.69 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.79;VQSLOD=13.2540;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:361,27,0 3 87295049 87295049 T C exonic CHMP2B synonymous SNV CHMP2B:NM_001244644:exon2:c.T189C:p.T63T,CHMP2B:NM_014043:exon3:c.T312C:p.T104T 0.82 0.5 0.94 0.91 0.94 0.93 0.9060 0.5710 0.9390 0.8974 0.9279 0.9421 0.9150 0.9410 0.82 0.58 0.94 0.79 0.93 rs11540913 . . not provided|Benign|Benign not_provided|not_specified|Frontotemporal_dementia RCV000084272.1|RCV000252941.1|RCV000293185.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN221809|CN169374|C0338451:600274:ORPHA282:230270009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9125 0.5689 0.9338 0.9151 0.8950 0.9300 0.9432 0.9269 0.9428 0.8308 0.5705 0.9224 0.91 0.8946 0.9238 0.9411 0.9151 hom 3187.60 111 3 87295049 . T C 3187.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.638;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4911;MQ=58.56;MQ0=0;MQRankSum=-0.453;QD=28.72;ReadPosRankSum=-0.609;VQSLOD=7.3280;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,110:111:99:3221,221,0 3 88188420 88188420 G A exonic ZNF654 nonsynonymous SNV ZNF654:NM_001350135:exon6:c.G1262A:p.S421N,ZNF654:NM_001350136:exon7:c.G965A:p.S322N,ZNF654:NM_001350137:exon7:c.G779A:p.S260N,ZNF654:NM_001350134:exon8:c.G1601A:p.S534N 0.78 0.57 0.85 0.84 0.84 0.91 0.8381 0.6102 0.8703 0.8491 0.8204 0.8553 0.8522 0.9127 0.79 0.63 0.86 0.71 . rs9813894 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8363 0.5985 0.8667 0.9015 0.8447 0.8210 0.8513 0.8502 0.9101 0.7852 0.6103 0.8465 0.9172 0.8249 0.8233 0.8632 0.8528 hom 644.24 20 3 88188420 . G A 644.24 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=32.21;VQSLOD=9.1687;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:677,54,0 3 88189341 88189341 T C exonic ZNF654 nonsynonymous SNV ZNF654:NM_001350135:exon6:c.T2183C:p.I728T,ZNF654:NM_001350136:exon7:c.T1886C:p.I629T,ZNF654:NM_001350137:exon7:c.T1700C:p.I567T,ZNF654:NM_001350134:exon8:c.T2522C:p.I841T 0.78 0.57 0.85 0.84 0.84 0.91 0.8426 0.6070 0.8716 0.8473 0.8207 0.8566 0.8627 0.9104 0.79 0.64 0.86 0.71 . rs7653652 COSM4158673;COSM4158674 1(thyroid) . . . . . . . . . . . 0.341 0.127 T 0.039 0.197 B 0.016 0.166 B 0.488 0.121 N 0.980 0.588 P -0.69 0.019 N 1.33 0.350 T -0.98 0.260 N 0.109 0.117 -0.966 0.380 T 0.000 0.000 T . . . 0.286 0.121 5.554 0.801 0.126 0.228 0.217 N c -0.378 -0.222 1.000 0.462 0.651 0.465 0 4.73 0.593 1.127 0.308 1.061 0.807 0.002 0.151 1.000 0.888 7.981 0.292 . ENSG00000179021.5|ENSG00000179021.5|ENSG00000179021.5|ENSG00000175105.5|ENSG00000179021.5|ENSG00000179021.5|ENSG00000175105.5|ENSG00000179021.5|ENSG00000179021.5|ENSG00000179021.5|ENSG00000179021.5|ENSG00000179021.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8447 0.6009 0.8695 0.9008 0.8440 0.8222 0.8522 0.8501 0.9090 0.7850 0.6098 0.8469 0.9172 0.8243 0.8242 0.8629 0.8544 hom 5192.17 181 3 88189341 . T C 5192.17 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4914;MQ=58.68;MQ0=0;QD=28.69;VQSLOD=7.0976;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5192,385,0 3 88199298 88199298 T C exonic C3orf38 synonymous SNV C3orf38:NM_173824:exon1:c.T96C:p.T32T 0.78 0.57 0.85 0.84 0.84 0.91 0.8413 0.6046 0.8725 0.8474 0.8203 0.8568 0.8614 0.9103 0.77 0.62 0.85 0.71 0.8 rs6551278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8448 0.6007 0.8702 0.9008 0.8440 0.8222 0.8523 0.8498 0.9091 0.7849 0.6099 0.8473 0.9172 0.8241 0.8233 0.8629 0.8548 hom 2854.14 99 3 88199298 . T C 2854.14 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=58.77;MQ0=0;QD=28.83;VQSLOD=8.5434;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2887,238,0 3 93768268 93768268 C G exonic ARL13B nonsynonymous SNV ARL13B:NM_144996:exon6:c.C722G:p.T241S,ARL13B:NM_001174151:exon7:c.C734G:p.T245S,ARL13B:NM_001174150:exon8:c.C1043G:p.T348S,ARL13B:NM_182896:exon8:c.C1043G:p.T348S,ARL13B:NM_001321328:exon9:c.C998G:p.T333S 0.078 0.003 0.076 0.086 0.11 0.14 0.1010 0.0208 0.0561 0.0762 0.0948 0.1150 0.1090 0.1396 0.087 0.022 0.12 0.043 0.066 rs33944211 COSM3760260;COSM3760259 1(large_intestine) other|Likely benign not_specified|Joubert_syndrome RCV000116417.4|RCV000274655.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004 . . . . . . 0.053 0.421 T 0.091 0.237 B 0.045 0.243 B 0.218 0.162 N 0.993 0.238 P 0.6 0.156 N 1.71 0.641 T -0.02 0.082 N 0.041 0.055 -0.954 0.404 T 0.004 0.014 T . . . 1.985 0.299 16.11 0.971 0.317 0.655 0.325 D c -0.195 -0.094 0.000 0.058 0.615 0.372 0 3.02 0.338 0.254 0.179 0.892 0.403 0.797 0.294 1.000 0.888 12.434 0.547 . . . 0.0980 0.0187 0.0589 0.1361 0.0717 0.0956 0.1110 0.1040 0.1371 0.0834 0.0197 0.0835 0.1623 0.0557 0.0991 0.1164 0.1150 het 649.18 48 3 93768268 . C G 649.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.835;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5584;MQ=58.24;MQ0=0;MQRankSum=1.454;QD=13.52;ReadPosRankSum=-1.454;VQSLOD=4.5402;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,24:48:99:679,0,583 3 93779860 93779860 C T exonic DHFR2 nonsynonymous SNV DHFR2:NM_001195643:exon2:c.G496A:p.V166I,DHFR2:NM_176815:exon2:c.G496A:p.V166I 0.077 0.003 0.076 0.086 0.11 0.14 0.0974 0.0202 0.0547 0.0726 0.0942 0.1105 0.1046 0.1372 0.086 0.022 0.12 0.043 0.082 rs17855824 COSM4158677 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.117 0.282 T 0.674 0.393 P 0.341 0.407 B 0.006 0.322 U 0.347 0.330 P 1.6 0.409 L -0.57 0.713 T -0.71 0.202 N 0.016 0.003 -1.077 0.080 T 0.004 0.012 T . . . 1.953 0.296 15.92 0.955 0.265 0.010 0.037 N c -0.478 -0.583 0.572 0.215 0.651 0.465 0 0.311 0.150 0.415 0.208 0.450 0.277 0.000 0.063 0.903 0.383 3.864 0.085 Dihydrofolate reductase domain|Dihydrofolate reductase-like domain . . 0.0972 0.0193 0.0602 0.1055 0.0709 0.0954 0.1113 0.1033 0.1375 0.0829 0.0201 0.0827 0.1325 0.0549 0.0997 0.1157 0.1135 het 1777.26 165 3 93779860 . C T 1777.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.439;DP=165;Dels=0.00;FS=4.605;HRun=0;HaplotypeScore=2.5922;MQ=58.47;MQ0=0;MQRankSum=0.496;QD=10.77;ReadPosRankSum=0.688;VQSLOD=5.1647;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,73:165:99:1807,0,2360 3 97607290 97607290 G A exonic CRYBG3 synonymous SNV CRYBG3:NM_153605:exon9:c.G7395A:p.P2465P 0.2 0.11 0.32 0.16 0.28 0.21 0.2719 0.1285 0.3268 0.1557 0.3400 0.3016 0.2857 0.2304 0.24 0.12 0.29 0.14 0.25 rs13065340 COSM149431 1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2715 0.1237 0.3128 0.2477 0.1534 0.3318 0.2991 0.2945 0.2264 0.2501 0.1251 0.3067 0.2333 0.1532 0.3291 0.3106 0.2699 het 401.04 43 3 97607290 . G A 401.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.301;DP=43;Dels=0.00;FS=4.638;HRun=0;HaplotypeScore=0.0000;MQ=57.69;MQ0=0;MQRankSum=0.110;QD=9.33;ReadPosRankSum=-1.424;VQSLOD=4.4199;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,20:43:99:431,0,614 3 97660084 97660084 C T exonic CRYBG3 synonymous SNV CRYBG3:NM_153605:exon20:c.C8598T:p.C2866C 0.2 0.11 0.31 0.15 0.28 0.21 0.2696 0.1271 0.3235 0.1441 0.3406 0.3002 0.28 0.2293 0.23 0.12 0.28 0.14 0.3 rs11544446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2702 0.1236 0.3092 0.2528 0.1441 0.3321 0.2985 0.2920 0.2254 0.2501 0.1265 0.3055 0.2450 0.1454 0.3295 0.3104 0.2684 het 895.18 60 3 97660084 . C T 895.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.203;DP=60;Dels=0.00;FS=3.606;HRun=0;HaplotypeScore=0.9992;MQ=58.84;MQ0=0;MQRankSum=-0.090;QD=14.92;ReadPosRankSum=-0.930;VQSLOD=5.9809;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,35:60:99:925,0,708 3 97660106 97660106 A C exonic CRYBG3 nonsynonymous SNV CRYBG3:NM_153605:exon20:c.A8620C:p.N2874H 0.48 0.26 0.51 0.69 0.51 0.51 0.5083 0.2919 0.5506 0.6960 0.5486 0.5095 0.4811 0.4903 0.44 0.29 0.51 0.43 0.48 rs4857302 COSM3765100;COSM3765099 1(pancreas);1(skin);1(central_nervous_system) . . . . . . . . . . . . . . 0.963 0.537 D 0.671 0.513 P 0.040 0.241 N 1 0.090 P 1.935 0.520 L . . . . . . 0.148 0.175 -1.002 0.294 T 0.000 0.000 T . . . 0.911 0.181 10.14 0.979 0.360 0.154 0.187 N c -0.493 -0.573 0.008 0.117 0.651 0.465 0 3.35 0.373 0.715 0.253 -0.163 0.107 0.315 0.252 0.720 0.314 5.992 0.186 Ricin B\x2c lectin domain . . 0.5162 0.2889 0.5605 0.5245 0.6865 0.5533 0.5075 0.4937 0.4905 0.4633 0.2919 0.5695 0.5464 0.6862 0.5542 0.5057 0.5429 het 817.64 71 3 97660106 . A C 817.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.203;DP=71;Dels=0.00;FS=8.183;HRun=0;HaplotypeScore=4.3139;MQ=59.35;MQ0=0;MQRankSum=0.180;QD=11.52;ReadPosRankSum=0.933;VQSLOD=4.7981;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,31:71:99:848,0,941 3 97664725 97664725 C T exonic RIOX2 nonsynonymous SNV RIOX2:NM_001042533:exon9:c.G1156A:p.A386T,RIOX2:NM_001261829:exon9:c.G1153A:p.A385T,RIOX2:NM_032778:exon9:c.G1153A:p.A385T,RIOX2:NM_153182:exon9:c.G1156A:p.A386T 0.48 0.26 0.51 0.67 0.51 0.51 0.5041 0.2913 0.5477 0.6818 0.5467 0.5070 0.4801 0.4879 0.44 0.29 0.51 0.43 0.45 rs2172257 COSM447109 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 0.57 0.064 T 0.004 0.112 B 0.01 0.139 B 0.162 0.176 N 1.000 0.203 P 0.31 0.103 N 2.71 0.122 T -0.69 0.197 N 0.011 0.067 -1.027 0.215 T 0.000 0.000 T . . . 1.507 0.243 13.35 0.905 0.191 0.028 0.075 N c -0.777 -0.640 0.071 0.156 0.707 0.730 0 1.6 0.226 -0.496 0.065 -0.330 0.074 0.150 0.234 0.988 0.529 5.47 0.158 . . . 0.5124 0.2877 0.5565 0.5231 0.6747 0.5509 0.5044 0.4903 0.4869 0.4611 0.2912 0.5646 0.5464 0.6770 0.5531 0.5034 0.5371 het 547.67 41 3 97664725 . C T 547.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.111;DP=41;Dels=0.00;FS=6.287;HRun=2;HaplotypeScore=1.5317;MQ=56.65;MQ0=0;MQRankSum=0.928;QD=13.36;ReadPosRankSum=0.484;VQSLOD=3.4583;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,22:41:99:578,0,500 3 97673268 97673268 A C exonic RIOX2 synonymous SNV RIOX2:NM_001042533:exon5:c.T753G:p.S251S,RIOX2:NM_001261829:exon5:c.T753G:p.S251S,RIOX2:NM_032778:exon5:c.T753G:p.S251S,RIOX2:NM_153182:exon5:c.T753G:p.S251S 0.99 1. 1. 0.98 1. 0.99 0.9972 0.9947 0.9989 0.9753 1 0.9996 0.9989 0.9981 1. 0.99 1. 0.99 0.98 rs832079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9946 0.9985 0.9985 0.9741 1 0.9997 0.9991 0.9985 0.9974 0.9956 0.9976 1 0.9759 1 0.9999 1 hom 1928.83 64 3 97673268 . A C 1928.83 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=30.14;VQSLOD=8.8642;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1962,162,0 3 97806616 97806616 G A exonic OR5AC2 nonsynonymous SNV OR5AC2:NM_054106:exon1:c.G600A:p.M200I 0.52 0.54 0.55 0.45 0.51 0.58 0.5099 0.5188 0.5340 0.4600 0.4820 0.5051 0.5156 0.5439 0.52 0.52 0.51 0.47 0.38 rs4518168 COSM5904772 1(skin) . . . . . . . . . . . 0.22 0.189 T 0.0 0.026 B 0.01 0.139 B 0.166 0.031 N 1 0.090 P 0.305 0.102 N 1.27 0.361 T -0.96 0.255 N 0.081 0.074 -0.913 0.465 T 0.000 0.000 T . . . -0.045 0.089 2.178 0.614 0.065 0.024 0.067 N c -1.133 -1.145 0.000 0.029 0.487 0.133 0 1.48 0.218 -0.203 0.094 0.028 0.149 0.000 0.063 0.001 0.043 3.429 0.069 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5071 0.5153 0.5254 0.4878 0.4500 0.4867 0.5049 0.5129 0.5432 0.5087 0.5083 0.5347 0.4433 0.4515 0.4980 0.5192 0.4826 het 883.09 59 3 97806616 . G A 883.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.251;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6487;MQ=60.00;MQ0=0;MQRankSum=0.008;QD=14.97;ReadPosRankSum=0.738;VQSLOD=5.7502;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,32:59:99:913,0,791 3 97806944 97806944 T C exonic OR5AC2 stoploss OR5AC2:NM_054106:exon1:c.T928C:p.X310Q 0.11 0.098 0.13 0.0069 0.24 0.096 0.1901 0.1385 0.0893 0.0042 0.2383 0.2469 0.1950 0.1299 0.21 0.14 0.24 0.13 0.23 rs80220955 COSM3760266 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . 0.641 0.155 8.433 0.533 0.048 0.008 0.032 N c -0.095 -0.470 0.000 0.029 0.054 0.004 0 1.53 0.221 0.122 0.154 -0.675 0.039 0.000 0.063 0.000 0.016 5.738 0.172 . . . 0.1832 0.1343 0.1007 0.2610 0.0044 0.2418 0.2388 0.2019 0.1164 0.1914 0.1497 0.1217 0.2967 0.0049 0.2426 0.2247 0.2057 het 376.50 38 3 97806944 . T C 376.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.763;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.39;MQ0=0;MQRankSum=-1.941;QD=9.91;ReadPosRankSum=2.150;VQSLOD=4.4256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,15:38:99:406,0,603 3 97868970 97868970 T A exonic OR5H14 synonymous SNV OR5H14:NM_001005514:exon1:c.T741A:p.S247S 0.59 0.71 0.56 0.52 0.53 0.56 0.5143 0.6237 0.4967 0.4998 0.4998 0.5048 0.4977 0.5105 . . . 0.43 0.29 rs12639519 COSM3760270 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5094 0.6575 0.4913 0.4650 0.5134 0.4920 0.5023 0.4942 0.5077 0.5905 0.6993 0.5310 0.4698 0.5330 0.5476 0.5522 0.5403 het 820.96 61 3 97868970 . T A 820.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.194;DP=61;Dels=0.00;FS=5.273;HRun=0;HaplotypeScore=1.9916;MQ=56.83;MQ0=0;MQRankSum=0.630;QD=13.46;ReadPosRankSum=0.224;VQSLOD=3.3578;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,33:61:99:851,0,725 3 97888197 97888197 C T exonic OR5H15 synonymous SNV OR5H15:NM_001005515:exon1:c.C654T:p.Y218Y 0.63 0.85 0.58 0.51 0.54 0.57 0.5702 0.8109 0.5389 0.5148 0.5366 0.5486 0.5589 0.5703 0.63 0.8 0.54 0.66 0.4 rs7623031 COSM3760274 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5616 0.8138 0.5362 0.5318 0.5125 0.5368 0.5488 0.5483 0.5669 0.6229 0.8058 0.5419 0.4901 0.5138 0.5493 0.5570 0.5511 het 429.76 48 3 97888197 . C T 429.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.381;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=54.37;MQ0=0;MQRankSum=0.638;QD=8.95;ReadPosRankSum=-1.202;VQSLOD=2.7915;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,20:48:99:460,0,786 3 97983257 97983257 C G exonic OR5H6 synonymous SNV OR5H6:NM_001005479:exon1:c.C129G:p.L43L 0.71 0.89 0.63 0.62 0.69 0.64 0.6810 0.8647 0.5734 0.6345 0.6882 0.6835 0.6850 0.6519 0.74 0.86 0.68 0.7 0.59 rs2132894 COSM1179810 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6718 0.8681 0.5812 0.6789 0.6356 0.6888 0.6809 0.6626 0.6473 0.7296 0.8730 0.5865 0.6821 0.6317 0.7040 0.6744 0.6811 hom 7806.45 247 3 97983257 . C G 7806.45 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6647;MQ=56.85;MQ0=0;QD=31.61;VQSLOD=4.1205;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:7806,608,0 3 97983391 97983391 C T exonic OR5H6 nonsynonymous SNV OR5H6:NM_001005479:exon1:c.C263T:p.S88L 0.38 0.44 0.36 0.13 0.56 0.38 0.4632 0.4568 0.2685 0.1119 0.5147 0.5548 0.4714 0.3962 0.64 0.67 0.63 0.33 0.42 rs2173236 COSM4610753 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.042 0.416 D 0.001 0.067 B 0.001 0.040 B 0.267 0.152 N 1 0.090 N -0.255 0.038 N 7.44 0.004 T 0.42 0.034 N 0.037 0.017 -0.954 0.403 T 0.000 0.000 T . . . 0.048 0.098 3.063 0.732 0.099 0.003 0.016 N c -2.114 -2.175 0.000 0.029 0.554 0.246 0 -4.15 0.036 -0.189 0.095 -4.684 0.000 0.000 0.063 0.000 0.016 6.419 0.208 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4565 0.4597 0.2894 0.5178 0.1125 0.5124 0.5592 0.4822 0.3942 0.4915 0.4799 0.3369 0.5132 0.1097 0.5244 0.5383 0.5144 hom 6754.94 220 3 97983391 . C T 6754.94 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4718;MQ=51.83;MQ0=1;QD=30.70;VQSLOD=3.4247;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:6754,551,0 3 97983488 97983496 TGTAACCAC - exonic OR5H6 nonframeshift deletion OR5H6:NM_001005479:exon1:c.360_368del:p.V124_T126del 0.32 0.21 0.34 0.13 0.56 0.38 0.4348 0.2422 0.2486 0.1094 0.5074 0.5424 0.4469 0.3935 0.43 0.24 0.53 . . rs74203917 COSM1163649 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4368 0.2400 0.2758 0.4850 0.1114 0.5105 0.5556 0.4679 0.3919 0.4227 0.2528 0.3289 0.4868 0.1099 0.5239 0.5317 0.4979 hom 7087.26 112 3 97983487 . TTGTAACCAC T 7087.26 Mask AC=2;AF=1.00;AN=2;DP=112;FS=0.000;HRun=0;HaplotypeScore=1076.2525;MQ=35.11;MQ0=0;QD=52.50;set=variant2 GT:AD:DP:GQ:PL 1/1:33,102:112:99:7087,268,0 3 97983561 97983561 G C exonic OR5H6 nonsynonymous SNV OR5H6:NM_001005479:exon1:c.G433C:p.A145P 0.7 0.87 0.63 0.62 0.69 0.63 0.6810 0.8583 0.5746 0.6404 0.6888 0.6835 0.6839 0.6511 0.74 0.85 0.68 0.7 0.59 rs9289564 COSM4406851 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 1.000 0.195 P -2.96 0.000 N 8.7 0.001 T 7.89 0.000 N 0.095 0.095 -0.969 0.373 T 0.000 0.000 T . . . -0.842 0.038 0.035 0.645 0.073 0.009 0.035 N c -1.629 -1.396 0.000 0.035 0.487 0.133 0 1.25 0.204 4.123 0.574 -0.050 0.123 0.998 0.411 0.833 0.348 5.903 0.181 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000249321.1 Testis 0.6714 0.8620 0.5813 0.6788 0.6377 0.6890 0.6808 0.6627 0.6466 0.7287 0.8687 0.5863 0.6821 0.6357 0.7045 0.6746 0.6807 hom 4318.97 150 3 97983561 . G C 4318.97 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=48.04;MQ0=1;QD=28.79;VQSLOD=2.9005;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4318,352,0 3 97983711 97983711 T C exonic OR5H6 nonsynonymous SNV OR5H6:NM_001005479:exon1:c.T583C:p.C195R 0.62 0.59 0.6 0.62 0.68 0.64 0.6560 0.6189 0.5572 0.6329 0.6878 0.6797 0.6767 0.6502 0.66 0.63 0.68 0.4 0.56 rs9853887 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.991 0.782 D 0.000 0.513 D 0.000 0.524 P 3.9 0.962 H 0.02 0.623 T -11.84 0.996 D 0.209 0.258 -0.900 0.480 T 0.000 0.000 T . . . 4.041 0.543 23.7 0.987 0.446 0.977 0.764 D c 0.545 0.291 0.001 0.083 0.487 0.133 0 2.19 0.268 6.947 0.756 0.853 0.373 1.000 0.715 0.809 0.339 7.966 0.291 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000249321.1 Testis 0.6496 0.6190 0.5622 0.6520 0.6321 0.6866 0.6776 0.6468 0.6411 0.6578 0.6262 0.5673 0.67 0.6319 0.7022 0.6725 0.6732 hom 1873.25 64 3 97983711 . T C 1873.25 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.81;MQ0=0;QD=29.27;VQSLOD=7.3174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1906,156,0 3 97983942 97983942 A G exonic OR5H6 nonsynonymous SNV OR5H6:NM_001005479:exon1:c.A814G:p.T272A 0.66 0.72 0.62 0.62 0.69 0.64 0.6657 0.7168 0.5667 0.6343 0.6890 0.6797 0.6766 0.6521 0.69 0.71 0.68 0.65 0.57 rs9853906 . . . . . . . . . . . . . 0.042 0.416 D 0.0 0.026 B 0.0 0.013 B 0.882 0.087 N 1 0.090 P 0.1 0.085 N 1.24 0.367 T 0.04 0.065 N 0.011 0.001 -0.991 0.323 T 0.000 0.000 T . . . 0.406 0.133 6.663 0.711 0.092 0.003 0.015 N c -1.661 -1.710 0.000 0.012 0.487 0.133 0 -0.036 0.132 -4.066 0.003 -2.832 0.002 0.000 0.063 0.000 0.016 6.289 0.201 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000249321.1 Testis 0.6587 0.7184 0.5736 0.6281 0.6353 0.6888 0.6799 0.6539 0.6473 0.6879 0.7297 0.5788 0.6424 0.6347 0.7041 0.6735 0.6742 hom 1390.89 48 3 97983942 . A G 1390.89 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=55.06;MQ0=0;QD=28.98;VQSLOD=6.7149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1424,117,0 3 97983981 97983981 G A exonic OR5H6 nonsynonymous SNV OR5H6:NM_001005479:exon1:c.G853A:p.D285N 0.32 0.22 0.34 0.13 0.56 0.38 0.4431 0.2472 0.2582 0.1118 0.5158 0.5522 0.4546 0.3951 0.45 0.25 0.56 0.26 0.45 rs9871143 COSM149433 1(stomach);1(prostate);2(large_intestine) . . . . . . . . . . . 0.238 0.178 T 0.097 0.240 B 0.16 0.331 B 0.094 0.202 N 1 0.090 P 0.145 0.088 N 8.67 0.001 T -2.84 0.598 D 0.033 0.013 -1.102 0.039 T 0.000 0.000 T . . . 0.858 0.176 9.818 0.972 0.322 0.021 0.062 N c -0.779 -0.866 0.000 0.012 0.487 0.133 0 2.19 0.268 0.602 0.237 -0.011 0.132 0.000 0.063 0.009 0.108 6.813 0.228 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4386 0.2415 0.2782 0.4859 0.1124 0.5117 0.5572 0.4694 0.3917 0.4267 0.2552 0.3294 0.4868 0.1110 0.5249 0.5375 0.5 hom 1965.58 62 3 97983981 . G A 1965.58 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.21;MQ0=0;QD=31.70;VQSLOD=8.2320;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1999,162,0 3 98073592 98073592 A - exonic OR5K4 frameshift deletion OR5K4:NM_001005517:exon1:c.895delA:p.I301Lfs*1 0.34 0.24 0.36 0.13 0.59 0.41 0.4741 0.2833 0.2815 0.1097 0.5279 0.5821 0.4809 0.4554 0.48 0.28 0.59 . . rs398102322 COSM1425967 3(skin);15(upper_aerodigestive_tract);3(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4717 0.2712 0.3155 0.5209 0.1093 0.5285 0.5861 0.5063 0.4366 0.4527 0.2775 0.3434 0.5436 0.1066 0.5410 0.5708 0.5266 hom 2960.79 123 3 98073591 . TA T 2960.79 Mask AC=2;AF=1.00;AN=2;DP=123;FS=0.000;HRun=7;HaplotypeScore=301.9575;MQ=60.06;MQ0=0;QD=24.07;set=variant2 GT:AD:DP:GQ:PL 1/1:22,101:123:99:3003,298,0 3 98110406 98110406 - A exonic OR5K3 frameshift insertion OR5K3:NM_001005516:exon1:c.898dupA:p.I302Nfs*21 0.33 0.21 0.37 0.13 0.6 0.4 0.4754 0.2746 0.2858 0.1006 0.5300 0.5881 0.4976 0.4463 0.48 0.26 0.59 0.022 . rs145803525 COSM4603200 14(upper_aerodigestive_tract);1(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4712 0.2569 0.3004 0.5291 0.0953 0.5220 0.5818 0.5093 0.4186 0.4501 0.2648 0.3493 0.57 0.0916 0.5423 0.5736 0.5245 hom 1398.17 44 3 98110406 . G GA 1398.17 Mask AC=2;AF=1.00;AN=2;DP=44;FS=0.000;HRun=7;HaplotypeScore=86.3922;MQ=60.49;MQ0=0;QD=31.78;set=variant2 GT:AD:DP:GQ:PL 1/1:4,40:44:99:1440,120,0 3 98541116 98541116 G A exonic DCBLD2 synonymous SNV DCBLD2:NM_080927:exon6:c.C786T:p.I262I 0.39 0.077 0.51 0.68 0.38 0.42 0.3859 0.1203 0.5477 0.6898 0.3832 0.3511 0.4014 0.4097 0.28 0.12 0.35 0.33 . rs828616 COSM3760290;COSM3760289 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3927 0.1160 0.5324 0.3524 0.6894 0.3687 0.3466 0.4003 0.4071 0.3021 0.1217 0.4916 0.3212 0.7063 0.3753 0.3319 0.3571 het 875.20 78 3 98541116 . G A 875.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.039;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5526;MQ=59.14;MQ0=0;MQRankSum=-0.332;QD=11.22;ReadPosRankSum=1.547;VQSLOD=5.5263;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,35:78:99:905,0,1179 3 100074068 100074068 C T exonic NIT2 stopgain NIT2:NM_020202:exon10:c.C787T:p.Q263X 0.0002 . . . 0.001 . . . . . . . . . . . . . . rs201668326 . . . . . . . . . . . . . . . . . . . . . . 0.000 0.843 D 1 0.810 D . . . . . . . . . . . . . . . . . . . . 13.782 0.993 43 0.996 0.768 0.979 0.778 D c 1.138 0.992 1.000 0.747 0.732 0.924 0 5.78 0.914 6.868 0.751 0.807 0.329 1.000 0.715 0.975 0.474 20.012 0.974 Carbon-nitrogen hydrolase . . . . . . . . . . . . . . . . . . . het 775.54 84 3 100074068 . C T 775.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.260;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8284;MQ=58.30;MQ0=0;MQRankSum=-0.045;QD=9.23;ReadPosRankSum=0.290;VQSLOD=3.9856;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,35:84:99:806,0,1279 3 100354524 100354524 A G exonic ADGRG7 nonsynonymous SNV ADGRG7:NM_032787:exon5:c.A451G:p.K151E 0.15 0.11 0.18 0.016 0.36 0.12 0.2561 0.1582 0.1387 0.0109 0.3071 0.3420 0.2605 0.1598 0.28 0.17 0.34 0.18 0.4 rs1144122 . . . . . . . . . . . . . 0.952 0.021 T 0.0 0.026 B 0.0 0.013 B 0.094 0.025 N 1 0.090 P 0 0.065 N 1.17 0.379 T 0.83 0.018 N 0.041 0.021 -1.002 0.292 T 0.000 0.000 T . . . -1.869 0.010 0.002 0.562 0.054 0.009 0.035 N c -1.552 -1.516 0.025 0.136 0.487 0.133 0 -1.43 0.084 -1.955 0.016 -0.711 0.037 0.000 0.063 0.002 0.062 5.643 0.167 . ENSG00000114354.8 Whole_Blood 0.2553 0.1572 0.1499 0.3688 0.0103 0.3010 0.3437 0.2781 0.1598 0.2524 0.1554 0.1933 0.3633 0.0105 0.3017 0.3237 0.2643 het 1538.72 107 3 100354524 . A G 1538.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.463;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.15;MQ0=0;MQRankSum=-0.521;QD=14.38;ReadPosRankSum=1.458;VQSLOD=6.5551;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,57:107:99:1569,0,1291 3 100467018 100467018 T C exonic TFG synonymous SNV TFG:NM_001007565:exon8:c.T846C:p.P282P,TFG:NM_001195478:exon8:c.T846C:p.P282P,TFG:NM_001195479:exon8:c.T834C:p.P278P,TFG:NM_006070:exon8:c.T846C:p.P282P 0.71 0.65 0.81 0.65 0.64 0.88 0.6993 0.6584 0.8414 0.6366 0.6720 0.6576 0.7049 0.8358 0.66 0.65 0.66 0.6 0.61 rs11353 COSM4157088 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . -1.026 0.216 T 0.000 0.000 T . . . -0.585 0.051 0.136 0.823 0.137 0.296 0.236 N c -0.019 0.050 0.999 0.373 0.707 0.730 0 4.77 0.603 1.077 0.301 0.066 0.173 1.000 0.715 0.997 0.653 5.793 0.175 . ENSG00000206535.3|ENSG00000114354.8|ENSG00000114354.8 Lung|Testis|Whole_Blood 0.7015 0.6555 0.8290 0.6164 0.6289 0.6709 0.6573 0.6919 0.8358 0.6676 0.6560 0.7792 0.6192 0.5946 0.6703 0.6739 0.7016 het 2404.11 186 3 100467018 . T C 2404.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.271;DP=186;Dels=0.00;FS=9.197;HRun=2;HaplotypeScore=6.9106;MQ=58.41;MQ0=0;MQRankSum=-0.698;QD=12.93;ReadPosRankSum=-0.440;VQSLOD=3.8607;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,89:186:99:2434,0,2363 3 100473505 100473505 C T exonic ABI3BP synonymous SNV ABI3BP:NM_015429:exon31:c.G2748A:p.P916P,ABI3BP:NM_001349332:exon32:c.G2823A:p.P941P,ABI3BP:NM_001349331:exon39:c.G3210A:p.P1070P,ABI3BP:NM_001349330:exon58:c.G4479A:p.P1493P,ABI3BP:NM_001349329:exon61:c.G4689A:p.P1563P 0.29 0.12 0.42 0.12 0.37 0.53 0.4401 0.1902 0.4820 0.2288 0.4283 0.4715 0.4019 0.5103 0.32 0.15 0.39 0.24 . rs10936352 COSM4157089;COSM4157091;COSM4157090 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3500 0.1278 0.3432 0.3535 0.1208 0.3570 0.3816 0.3631 0.4803 0.3072 0.1475 0.3337 0.3113 0.0936 0.3674 0.4025 0.3865 het 63.41 15 3 100473505 . C T 63.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.306;DP=15;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.919;QD=4.23;ReadPosRankSum=-1.653;VQSLOD=3.1608;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:15:93.40:93,0,272 3 100617680 100617680 C T exonic ABI3BP synonymous SNV ABI3BP:NM_001349329:exon4:c.G408A:p.S136S,ABI3BP:NM_001349330:exon4:c.G408A:p.S136S,ABI3BP:NM_001349331:exon4:c.G408A:p.S136S,ABI3BP:NM_001349332:exon4:c.G408A:p.S136S,ABI3BP:NM_015429:exon4:c.G408A:p.S136S 0.73 0.75 0.67 0.93 0.52 0.73 0.6168 0.7096 0.7688 0.9192 0.6384 0.5103 0.6225 0.7188 0.56 0.7 0.49 0.77 . rs2245370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6178 0.7087 0.7530 0.4222 0.9143 0.6417 0.5057 0.5906 0.7173 0.6073 0.6915 0.7160 0.4238 0.9031 0.6352 0.5176 0.6069 het 1852.26 200 3 100617680 . C T 1852.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.065;DP=200;Dels=0.00;FS=12.871;HRun=0;HaplotypeScore=6.4568;MQ=59.40;MQ0=0;MQRankSum=0.055;QD=9.26;ReadPosRankSum=-0.843;VQSLOD=3.3792;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:123,75:200:99:1882,0,3291 3 100949842 100949842 G A exonic IMPG2 synonymous SNV IMPG2:NM_016247:exon16:c.C3381T:p.L1127L 0.81 0.83 0.82 0.82 0.81 0.78 0.7911 0.8252 0.8201 0.8164 0.8332 0.7820 0.7731 0.7567 0.8 0.82 0.78 0.78 0.76 rs348867 . . Benign Retinitis_Pigmentosa\x2c_Recessive RCV000388657.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7909 0.8237 0.8254 0.6872 0.8139 0.8345 0.7843 0.7878 0.7506 0.8094 0.8188 0.8289 0.6788 0.8236 0.8434 0.7970 0.7941 hom 7120.35 229 3 100949842 . G A 7120.35 Mask AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2659;MQ=59.43;MQ0=0;QD=31.09;VQSLOD=8.6649;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,227:229:99:7119,578,0 3 101283792 101283792 C G exonic TRMT10C nonsynonymous SNV TRMT10C:NM_017819:exon2:c.C167G:p.P56R 0.14 0.1 0.11 0.12 0.15 0.21 0.1500 0.1094 0.0876 0.1359 0.1346 0.1589 0.1604 0.1947 0.14 0.1 0.16 0.11 0.12 rs3762735 . . . . . . . . . . . . . 0.224 0.187 T 0.001 0.067 B 0.002 0.063 B 0.888 0.087 N 1 0.090 P 0.55 0.145 N 2.56 0.223 T -0.58 0.174 N 0.041 0.047 -1.066 0.103 T 0.000 0.001 T . . . 0.217 0.115 4.862 0.938 0.232 0.306 0.239 N c -0.562 -0.493 1.000 0.747 0.732 0.924 0 5.16 0.704 0.964 0.287 0.935 0.490 0.000 0.063 0.022 0.137 9.818 0.398 . ENSG00000144815.10|ENSG00000144815.10 Cells_Transformed_fibroblasts|Nerve_Tibial 0.1480 0.1057 0.0926 0.1592 0.1323 0.1315 0.1610 0.1617 0.1967 0.1361 0.1155 0.0990 0.1788 0.1462 0.1363 0.1476 0.1442 hom 4001.03 135 3 101283792 . C G 4001.03 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=59.38;MQ0=0;QD=29.64;VQSLOD=7.9624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4000,331,0 3 101484335 101484335 G A exonic CEP97 synonymous SNV CEP97:NM_001303401:exon11:c.G2361A:p.Q787Q,CEP97:NM_024548:exon11:c.G2538A:p.Q846Q 0.91 0.88 0.93 0.99 0.9 0.83 0.9110 0.8749 0.9478 0.9892 0.9227 0.9149 0.8830 0.8473 0.9 0.88 0.91 0.92 0.92 rs2625282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9126 0.8698 0.9473 0.8982 0.9882 0.9254 0.9134 0.9065 0.8470 0.9085 0.8660 0.9415 0.8974 0.9840 0.9257 0.9193 0.9102 hom 5583.75 173 3 101484335 . G A 5583.75 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7550;MQ=59.25;MQ0=0;QD=32.28;VQSLOD=9.0085;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5583,427,0 3 101576175 101576175 T C exonic NFKBIZ synonymous SNV NFKBIZ:NM_031419:exon11:c.T1975C:p.L659L,NFKBIZ:NM_001005474:exon12:c.T1675C:p.L559L 0.53 0.5 0.68 0.44 0.63 0.48 0.5948 0.5150 0.7585 0.4757 0.5316 0.6244 0.5551 0.5006 0.59 0.52 0.63 0.56 0.57 rs14134 COSM4157106 1(breast);1(haematopoietic_and_lymphoid_tissue);18(soft_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6016 0.5208 0.7507 0.6121 0.4754 0.5249 0.6276 0.6082 0.5068 0.5648 0.5227 0.7315 0.5993 0.4684 0.5209 0.6029 0.5184 hom 5495.17 170 3 101576175 . T C 5495.17 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=57.23;MQ0=0;QD=32.32;VQSLOD=7.7328;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:5495,427,0 3 102157365 102157365 A T exonic ZPLD1 nonsynonymous SNV ZPLD1:NM_175056:exon2:c.A82T:p.I28F,ZPLD1:NM_001329788:exon3:c.A34T:p.I12F 0.097 0.09 0.16 0.036 0.14 0.083 0.1333 0.0992 0.1566 0.0321 0.1178 0.1575 0.1344 0.1001 0.13 0.092 0.15 0.043 0.19 rs6784362 COSM3759567 1(large_intestine) . . . . . . . . . . . 0.332 0.178 T 0.0 0.026 B 0.0 0.013 B 0.004 0.343 N 0.375 0.339 P 0.41 0.124 N -1.4 0.805 T -0.77 0.214 N 0.067 0.075 -1.097 0.044 T 0.001 0.003 T . . . 1.918 0.291 15.70 0.944 0.242 0.177 0.198 N c -0.720 -0.557 0.000 0.053 0.487 0.133 0 3.81 0.429 1.309 0.329 1.028 0.649 0.003 0.159 0.993 0.574 6.171 0.195 . . . 0.1333 0.0993 0.1514 0.1548 0.0347 0.1171 0.1580 0.1491 0.0983 0.1328 0.0969 0.1352 0.1267 0.0370 0.1258 0.1654 0.1365 hom 1631.34 51 3 102157365 . A T 1631.34 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;QD=31.99;VQSLOD=9.3427;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1664,132,0 3 102157417 102157417 A G exonic ZPLD1 nonsynonymous SNV ZPLD1:NM_175056:exon2:c.A134G:p.N45S,ZPLD1:NM_001329788:exon3:c.A86G:p.N29S 0.097 0.09 0.16 0.036 0.14 0.082 0.1336 0.0994 0.1584 0.0321 0.1182 0.1576 0.1355 0.1001 0.13 0.092 0.15 0.043 0.19 rs6784389 COSM3759568 1(NS);1(large_intestine) . . . . . . . . . . . 0.074 0.346 T 0.047 0.206 B 0.015 0.162 B 0.000 0.843 N 0.000 0.503 P 1.325 0.333 L -1.43 0.809 T -1.09 0.291 N 0.001 0.000 -1.091 0.054 T 0.002 0.005 T . . . 0.783 0.169 9.361 0.807 0.129 0.858 0.447 D c -0.786 -0.622 0.000 0.029 0.487 0.133 0 1.48 0.218 2.324 0.432 -0.316 0.077 1.000 0.715 0.996 0.625 5.820 0.177 Zona pellucida domain . . 0.1334 0.0990 0.1526 0.1545 0.0346 0.1171 0.1578 0.1497 0.0983 0.1329 0.0971 0.1337 0.1291 0.0371 0.1266 0.1653 0.1365 hom 1461.15 47 3 102157417 . A G 1461.15 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=31.09;VQSLOD=9.3064;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1494,114,0 3 102181131 102181131 A G exonic ZPLD1 nonsynonymous SNV ZPLD1:NM_175056:exon6:c.A637G:p.T213A,ZPLD1:NM_001329788:exon7:c.A589G:p.T197A 0.096 0.089 0.16 0.036 0.14 0.081 0.1343 0.0997 0.1629 0.0318 0.1180 0.1576 0.1350 0.1014 0.13 0.092 0.15 0.043 0.16 rs12054046 COSM3759569 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.162 0.235 T 0.037 0.195 B 0.022 0.195 B 0.000 0.629 D 0.002 0.444 P 0.62 0.158 N -1.56 0.818 D -0.89 0.240 N 0.097 0.189 -1.036 0.184 T 0.002 0.006 T . . . 1.877 0.286 15.45 0.975 0.336 0.815 0.406 D c -0.323 -0.135 0.000 0.060 0.487 0.133 0 4.09 0.469 2.875 0.479 0.921 0.432 1.000 0.715 0.988 0.529 11.318 0.485 Zona pellucida domain . . 0.1341 0.0989 0.1584 0.1550 0.0351 0.1173 0.1576 0.1491 0.0982 0.1331 0.0973 0.1355 0.1291 0.0360 0.1261 0.1657 0.1367 hom 2149.60 67 3 102181131 . A G 2149.60 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.88;MQ0=0;QD=32.08;VQSLOD=8.6553;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2183,169,0 3 105260518 105260518 G A exonic ALCAM synonymous SNV ALCAM:NM_001243280:exon8:c.G900A:p.L300L,ALCAM:NM_001243281:exon8:c.G900A:p.L300L,ALCAM:NM_001627:exon8:c.G900A:p.L300L 0.24 0.3 0.31 0.15 0.24 0.18 0.2197 0.2883 0.2993 0.1631 0.1506 0.2193 0.2185 0.1805 0.24 0.29 0.22 0.22 0.25 rs579565 COSM3759580 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2198 0.2862 0.3057 0.2333 0.1615 0.1500 0.2172 0.2356 0.1794 0.2232 0.2807 0.2986 0.2351 0.1554 0.1518 0.2119 0.1796 het 535.19 42 3 105260518 . G A 535.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.445;DP=42;Dels=0.00;FS=5.020;HRun=1;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=1.196;QD=12.74;ReadPosRankSum=-1.952;VQSLOD=4.7227;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,22:42:99:565,0,599 3 105260596 105260596 T C exonic ALCAM synonymous SNV ALCAM:NM_001243280:exon8:c.T978C:p.A326A,ALCAM:NM_001243281:exon8:c.T978C:p.A326A,ALCAM:NM_001627:exon8:c.T978C:p.A326A 0.96 0.86 0.99 1. 1. 1. 0.9890 0.8794 0.9944 1 1 0.9998 0.9956 0.9999 0.96 0.89 1. 0.91 0.99 rs599278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.8799 0.9937 0.9994 1 1 0.9996 0.9963 0.9998 0.9659 0.8816 0.9869 1 1 1 0.9997 0.9949 hom 1962.86 63 3 105260596 . T C 1962.86 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9952;MQ=58.43;MQ0=0;QD=31.16;VQSLOD=8.9364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1996,153,0 3 105389153 105389153 A G exonic CBLB synonymous SNV CBLB:NM_001321816:exon15:c.T1554C:p.P518P,CBLB:NM_001321797:exon16:c.T2334C:p.P778P,CBLB:NM_001321798:exon16:c.T2334C:p.P778P,CBLB:NM_001321799:exon16:c.T2334C:p.P778P,CBLB:NM_001321811:exon16:c.T1686C:p.P562P,CBLB:NM_001321789:exon17:c.T2550C:p.P850P,CBLB:NM_001321790:exon17:c.T2547C:p.P849P,CBLB:NM_001321791:exon17:c.T2481C:p.P827P,CBLB:NM_001321793:exon17:c.T2481C:p.P827P,CBLB:NM_001321794:exon17:c.T2466C:p.P822P,CBLB:NM_001321795:exon17:c.T2466C:p.P822P,CBLB:NM_001321796:exon17:c.T2466C:p.P822P,CBLB:NM_001321806:exon17:c.T1833C:p.P611P,CBLB:NM_001321786:exon18:c.T2697C:p.P899P,CBLB:NM_001321788:exon18:c.T2613C:p.P871P,CBLB:NM_001321808:exon18:c.T1701C:p.P567P,CBLB:NM_001321813:exon18:c.T1686C:p.P562P,CBLB:NM_170662:exon18:c.T2613C:p.P871P,CBLB:NM_001321807:exon19:c.T1833C:p.P611P,CBLB:NM_001321820:exon19:c.T1293C:p.P431P,CBLB:NM_001321822:exon19:c.T1284C:p.P428P 0.21 0.22 0.3 0.19 0.23 0.13 0.2191 0.2202 0.3322 0.2163 0.2649 0.2128 0.2227 0.1477 0.21 0.21 0.21 0.32 0.17 rs11713094 COSM4419181;COSM4419180 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2233 0.2215 0.3266 0.1452 0.2144 0.2724 0.2138 0.2170 0.1415 0.2309 0.2264 0.2716 0.1556 0.2233 0.2613 0.2271 0.2194 het 733 85 3 105389153 . A G 733 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.288;DP=85;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.4450;MQ=59.73;MQ0=0;MQRankSum=0.225;QD=8.62;ReadPosRankSum=0.280;VQSLOD=5.5956;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,30:85:99:763,0,1608 3 105422844 105422844 C T exonic CBLB synonymous SNV CBLB:NM_001321796:exon10:c.G1434A:p.T478T,CBLB:NM_001321799:exon10:c.G1434A:p.T478T,CBLB:NM_001321806:exon10:c.G801A:p.T267T,CBLB:NM_001321811:exon10:c.G801A:p.T267T,CBLB:NM_001321816:exon10:c.G801A:p.T267T,CBLB:NM_001321786:exon11:c.G1665A:p.T555T,CBLB:NM_001321788:exon11:c.G1581A:p.T527T,CBLB:NM_001321789:exon11:c.G1665A:p.T555T,CBLB:NM_001321790:exon11:c.G1647A:p.T549T,CBLB:NM_001321791:exon11:c.G1581A:p.T527T,CBLB:NM_001321793:exon11:c.G1581A:p.T527T,CBLB:NM_001321794:exon11:c.G1581A:p.T527T,CBLB:NM_001321795:exon11:c.G1581A:p.T527T,CBLB:NM_001321797:exon11:c.G1581A:p.T527T,CBLB:NM_001321798:exon11:c.G1581A:p.T527T,CBLB:NM_170662:exon11:c.G1581A:p.T527T,CBLB:NM_001321807:exon12:c.G801A:p.T267T,CBLB:NM_001321808:exon12:c.G801A:p.T267T,CBLB:NM_001321813:exon12:c.G801A:p.T267T,CBLB:NM_001321822:exon12:c.G252A:p.T84T,CBLB:NM_001321820:exon13:c.G393A:p.T131T 0.75 0.73 0.68 0.78 0.72 0.83 0.7307 0.7404 0.6584 0.7642 0.6564 0.7241 0.7291 0.8139 0.74 0.74 0.73 0.63 0.71 rs2305037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7267 0.7391 0.6590 0.8336 0.7615 0.6429 0.7216 0.7362 0.8184 0.7164 0.7332 0.7053 0.83 0.7559 0.6562 0.7145 0.7209 het 1014.88 68 3 105422844 . C T 1014.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.204;DP=68;Dels=0.00;FS=1.298;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-0.763;QD=14.92;ReadPosRankSum=0.209;VQSLOD=6.4066;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,37:68:99:1045,0,779 3 105438957 105438957 T G exonic CBLB synonymous SNV CBLB:NM_001321796:exon9:c.A1194C:p.L398L,CBLB:NM_001321799:exon9:c.A1194C:p.L398L,CBLB:NM_001321806:exon9:c.A561C:p.L187L,CBLB:NM_001321811:exon9:c.A561C:p.L187L,CBLB:NM_001321816:exon9:c.A561C:p.L187L,CBLB:NM_001321786:exon10:c.A1425C:p.L475L,CBLB:NM_001321788:exon10:c.A1341C:p.L447L,CBLB:NM_001321789:exon10:c.A1425C:p.L475L,CBLB:NM_001321790:exon10:c.A1407C:p.L469L,CBLB:NM_001321791:exon10:c.A1341C:p.L447L,CBLB:NM_001321793:exon10:c.A1341C:p.L447L,CBLB:NM_001321794:exon10:c.A1341C:p.L447L,CBLB:NM_001321795:exon10:c.A1341C:p.L447L,CBLB:NM_001321797:exon10:c.A1341C:p.L447L,CBLB:NM_001321798:exon10:c.A1341C:p.L447L,CBLB:NM_170662:exon10:c.A1341C:p.L447L,CBLB:NM_001321807:exon11:c.A561C:p.L187L,CBLB:NM_001321808:exon11:c.A561C:p.L187L,CBLB:NM_001321813:exon11:c.A561C:p.L187L,CBLB:NM_001321822:exon11:c.A12C:p.L4L,CBLB:NM_001321820:exon12:c.A153C:p.L51L 0.21 0.19 0.3 0.22 0.24 0.13 0.2205 0.1888 0.3305 0.2338 0.2666 0.2178 0.2228 0.1492 0.2 0.18 0.21 0.3 0.19 rs2305036 COSM3759582;COSM3759581 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2263 0.1914 0.3273 0.1449 0.2360 0.2756 0.2199 0.2224 0.1429 0.2260 0.1940 0.2757 0.1556 0.2382 0.2650 0.2330 0.2219 het 2127.33 159 3 105438957 . T G 2127.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.224;DP=159;Dels=0.00;FS=2.849;HRun=0;HaplotypeScore=7.9035;MQ=58.97;MQ0=0;MQRankSum=0.975;QD=13.38;ReadPosRankSum=0.129;VQSLOD=4.8605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,83:159:99:2157,0,1908 3 105439026 105439026 G A exonic CBLB synonymous SNV CBLB:NM_001321796:exon9:c.C1125T:p.D375D,CBLB:NM_001321799:exon9:c.C1125T:p.D375D,CBLB:NM_001321806:exon9:c.C492T:p.D164D,CBLB:NM_001321811:exon9:c.C492T:p.D164D,CBLB:NM_001321816:exon9:c.C492T:p.D164D,CBLB:NM_001321786:exon10:c.C1356T:p.D452D,CBLB:NM_001321788:exon10:c.C1272T:p.D424D,CBLB:NM_001321789:exon10:c.C1356T:p.D452D,CBLB:NM_001321790:exon10:c.C1338T:p.D446D,CBLB:NM_001321791:exon10:c.C1272T:p.D424D,CBLB:NM_001321793:exon10:c.C1272T:p.D424D,CBLB:NM_001321794:exon10:c.C1272T:p.D424D,CBLB:NM_001321795:exon10:c.C1272T:p.D424D,CBLB:NM_001321797:exon10:c.C1272T:p.D424D,CBLB:NM_001321798:exon10:c.C1272T:p.D424D,CBLB:NM_170662:exon10:c.C1272T:p.D424D,CBLB:NM_001321807:exon11:c.C492T:p.D164D,CBLB:NM_001321808:exon11:c.C492T:p.D164D,CBLB:NM_001321813:exon11:c.C492T:p.D164D,CBLB:NM_001321820:exon12:c.C84T:p.D28D 0.21 0.19 0.3 0.22 0.24 0.13 0.2204 0.1883 0.3289 0.2354 0.2639 0.2176 0.2249 0.1506 0.2 0.18 0.21 0.32 0.19 rs2305035 COSM3759583;COSM3759584 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2252 0.1893 0.3259 0.1447 0.2350 0.2737 0.2190 0.2220 0.1421 0.2249 0.1921 0.2746 0.1567 0.2351 0.2637 0.2328 0.2200 het 1106.75 94 3 105439026 . G A 1106.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.965;DP=94;Dels=0.00;FS=6.573;HRun=0;HaplotypeScore=2.9745;MQ=59.51;MQ0=0;MQRankSum=0.903;QD=11.77;ReadPosRankSum=0.061;VQSLOD=5.1625;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,43:94:99:1137,0,1377 3 107097346 107097346 C A exonic CCDC54 synonymous SNV CCDC54:NM_032600:exon1:c.C912A:p.T304T 0.069 0.02 0.069 0.036 0.13 0.11 0.0865 0.0355 0.0480 0.0332 0.0552 0.1025 0.0885 0.1191 0.085 0.036 0.11 0.12 0.19 rs3811061 COSM3759585 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0867 0.0353 0.0555 0.1438 0.0297 0.0552 0.1035 0.0928 0.1211 0.0664 0.0343 0.0668 0.1424 0.0272 0.0519 0.0909 0.0713 hom 1846.84 62 3 107097346 . C A 1846.84 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=29.79;VQSLOD=9.2452;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1880,144,0 3 108072298 108072298 T C exonic HHLA2 nonsynonymous SNV HHLA2:NM_001282556:exon4:c.T89C:p.I30T,HHLA2:NM_001282557:exon4:c.T89C:p.I30T,HHLA2:NM_007072:exon4:c.T89C:p.I30T,HHLA2:NM_001282558:exon5:c.T89C:p.I30T 0.59 0.79 0.6 0.21 0.68 0.62 0.6942 0.7841 0.6870 0.3421 0.6678 0.7243 0.6592 0.6529 0.7 0.77 0.68 0.53 . rs6779254 COSM4002362;COSM4002363 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.918 0.279 T 0.0 0.026 B 0.0 0.013 B 0.066 0.022 N 1 0.090 P -0.69 0.019 N 2.53 0.433 T -0.78 0.245 N 0.046 0.375 -0.965 0.383 T 0.000 0.000 T . . . -2.732 0.002 0.001 0.228 0.009 0.008 0.033 N c -1.902 -1.946 0.082 0.159 0.554 0.246 0 -7.67 0.011 -2.276 0.012 -1.831 0.006 0.000 0.063 0.000 0.016 1.600 0.025 . . . 0.6289 0.7688 0.6078 0.6924 0.2052 0.6150 0.6839 0.6540 0.6171 0.6697 0.7727 0.6181 0.6921 0.2034 0.6073 0.6782 0.6489 hom 764.51 25 3 108072298 . T C 764.51 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.58;VQSLOD=14.1104;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:60.20:798,60,0 3 108081247 108081247 G A exonic HHLA2 synonymous SNV HHLA2:NM_001282556:exon7:c.G1062A:p.A354A,HHLA2:NM_001282557:exon7:c.G1062A:p.A354A,HHLA2:NM_007072:exon7:c.G1062A:p.A354A,HHLA2:NM_001282558:exon8:c.G1062A:p.A354A,HHLA2:NM_001282559:exon8:c.G870A:p.A290A 0.15 0.23 0.17 0.054 0.19 0.11 0.1863 0.2198 0.2208 0.0449 0.1533 0.2077 0.1762 0.1402 0.2 0.2 0.2 0.22 . rs16854512 COSM3759592;COSM3759591 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1797 0.2079 0.2166 0.2234 0.0434 0.1517 0.1996 0.1929 0.1343 0.1814 0.2128 0.1942 0.2351 0.0507 0.1458 0.1848 0.1667 het 305.44 24 3 108081247 . G A 305.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.722;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.99;MQ0=0;MQRankSum=1.819;QD=12.73;ReadPosRankSum=-1.992;VQSLOD=5.5569;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:335,0,285 3 108147728 108147728 T C exonic MYH15 nonsynonymous SNV MYH15:NM_014981:exon28:c.A3373G:p.T1125A 0.17 0.12 0.2 0.012 0.31 0.22 0.2405 0.1554 0.1327 0.0067 0.2856 0.3050 0.2617 0.2081 0.24 0.14 0.29 0.087 0.24 rs3900940 COSM3759594 4(soft_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.009 0.133 B . . . 0.342 0.330 P -0.825 0.015 N -0.89 0.748 T 1.44 0.008 N 0.008 0.000 -1.055 0.130 T 0.000 0.000 T . . . -1.376 0.020 0.004 0.115 0.002 0.781 0.382 D c -1.182 -1.067 0.048 0.148 0.487 0.133 0 -1.67 0.078 1.708 0.373 -0.220 0.097 1.000 0.715 0.002 0.062 5.557 0.163 Myosin tail ENSG00000198919.8 Whole_Blood 0.2397 0.1496 0.1532 0.2374 0.0070 0.2842 0.3088 0.2688 0.2074 0.2383 0.1547 0.1790 0.2417 0.0074 0.2888 0.3025 0.2536 het 1364.60 96 3 108147728 . T C 1364.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.772;DP=96;Dels=0.00;FS=2.010;HRun=1;HaplotypeScore=1.8824;MQ=58.69;MQ0=0;MQRankSum=0.440;QD=14.21;ReadPosRankSum=0.227;VQSLOD=6.3936;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,49:96:99:1395,0,1200 3 108188993 108188993 G A exonic MYH15 nonsynonymous SNV MYH15:NM_014981:exon15:c.C1510T:p.H504Y 0.52 0.69 0.57 0.022 0.74 0.52 0.6158 0.6818 0.4017 0.0098 0.7091 0.7274 0.6356 0.5509 0.71 0.69 0.72 0.54 0.7 rs9868484 . . . . . . . . . . . . . 0.0 0.912 D 0.995 0.657 D 0.968 0.701 D . . . 0.029 0.388 P 1.685 0.434 L -0.74 0.732 T -4.59 0.789 D 0.239 0.293 -0.919 0.457 T 0.000 0.000 T . . . 2.114 0.315 16.94 0.996 0.765 0.968 0.709 D c 0.475 0.309 1.000 0.747 0.554 0.246 0 4.37 0.517 5.760 0.682 1.048 0.713 1.000 0.715 0.363 0.248 11.793 0.512 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.6058 0.6742 0.4096 0.7049 0.0103 0.7137 0.7290 0.6526 0.5492 0.6665 0.6851 0.4545 0.7185 0.0099 0.7069 0.7279 0.6667 hom 2105.41 69 3 108188993 . G A 2105.41 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=4.8304;MQ=58.97;MQ0=0;QD=30.08;VQSLOD=7.5822;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,68:69:99:2138,178,0 3 108189627 108189627 C T exonic MYH15 nonsynonymous SNV MYH15:NM_014981:exon14:c.G1361A:p.R454Q 0.1 0.0098 0.19 . 0.29 0.069 0.2070 0.0549 0.1163 0.0007 0.2841 0.2914 0.2112 0.0955 0.22 0.056 0.3 0.16 0.29 rs4299484 COSM1130381 1(pancreas);1(prostate) . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.999 0.916 D . . . 1 0.090 P 2.045 0.562 M -2.38 0.883 D -3.35 0.664 D 0.238 0.291 -1.239 0.000 T 0.000 0.000 T . . . 6.584 0.905 31 0.999 0.998 0.158 0.189 N c 0.158 -0.047 1.000 0.747 0.554 0.246 0 2.58 0.299 0.272 0.183 0.845 0.345 0.000 0.063 0.287 0.235 7.019 0.239 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000198919.8 Whole_Blood 0.2106 0.0506 0.1303 0.2879 0.0006 0.2909 0.2961 0.2470 0.0968 0.2002 0.0546 0.1229 0.2682 0.0012 0.2755 0.2897 0.2301 het 1264.91 76 3 108189627 . C T 1264.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.304;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7719;MQ=58.78;MQ0=0;MQRankSum=-0.535;QD=16.64;ReadPosRankSum=-1.390;VQSLOD=4.3729;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:29,47:76:99:1295,0,708 3 108373022 108373022 G A exonic DZIP3 synonymous SNV DZIP3:NM_014648:exon19:c.G2064A:p.L688L 0.23 0.18 0.31 0.016 0.34 0.33 0.3100 0.2000 0.2279 0.0197 0.3083 0.3666 0.3073 0.3604 0.31 0.2 0.37 0.27 0.39 rs2969901 COSM3759597 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3092 0.1955 0.2323 0.4299 0.0202 0.3119 0.3667 0.3237 0.3601 0.2883 0.2021 0.2470 0.4272 0.0179 0.3002 0.3620 0.3282 het 1521.18 139 3 108373022 . G A 1521.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.798;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9191;MQ=58.79;MQ0=0;MQRankSum=1.163;QD=10.94;ReadPosRankSum=-0.802;VQSLOD=5.9536;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,60:139:99:1551,0,2132 3 108403086 108403086 T C exonic DZIP3 synonymous SNV DZIP3:NM_014648:exon27:c.T2907C:p.P969P 1. 0.99 1. 1. 1. 1. 0.9991 0.9914 0.9998 1 1 1 1 0.9989 1. 0.99 1. 0.97 1. rs9856097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9892 0.9995 1 1 1 1.0000 0.9998 0.9992 0.9973 0.9904 0.9988 1 1 1 1 1 hom 4979.59 161 3 108403086 . T C 4979.59 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.4617;MQ=59.19;MQ0=0;QD=30.93;VQSLOD=8.4164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:4979,373,0 3 108475993 108475993 - GGGGATTA exonic RETNLB stopgain RETNLB:NM_032579:exon1:c.39_40insTAATCCCC:p.L14fs*0 0.092 0.089 0.12 . 0.19 0.064 0.1355 0.1024 0.0797 0.0002 0.1474 0.1815 0.1336 0.0760 0.16 0.099 0.19 0.043 . rs5851607 COSM1318744 1(haematopoietic_and_lymphoid_tissue);2(pancreas);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1390 0.1038 0.0954 0.1708 0.0003 0.1543 0.1892 0.1573 0.0757 0.1385 0.1054 0.0955 0.1589 0.0012 0.1408 0.1739 0.1418 het 1559.71 54 3 108475993 . G GGGGGATTA 1559.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.523;DP=54;FS=0.000;HRun=0;HaplotypeScore=323.0535;MQ=53.02;MQ0=0;MQRankSum=-4.572;QD=28.88;ReadPosRankSum=1.042;set=variant2 GT:AD:DP:GQ:PL 0/1:42,12:54:99:1599,0,2278 3 108639423 108639423 C T exonic GUCA1C nonsynonymous SNV GUCA1C:NM_005459:exon2:c.G214A:p.V72I 0.62 0.71 0.63 0.38 0.72 0.65 0.6688 0.7059 0.5895 0.3397 0.7332 0.7154 0.6506 0.6552 0.7 0.71 0.7 0.63 0.48 rs2715687 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.191 P -1.96 0.002 N -1.0 0.760 T 0.79 0.019 N 0.042 0.028 -0.918 0.458 T 0.000 0.000 T . . . 0.846 0.175 9.744 0.128 0.002 0.028 0.075 N c -0.887 -0.615 0.001 0.075 0.487 0.133 0 4.0 0.455 4.445 0.595 0.013 0.140 1.000 0.715 0.982 0.498 8.214 0.305 EF-Hand 1\x2c calcium-binding site|EF-hand domain|EF-hand domain pair ENSG00000138472.6 Pancreas 0.6619 0.7003 0.5868 0.8106 0.3251 0.7292 0.7046 0.6979 0.6549 0.6918 0.6974 0.6077 0.7715 0.3373 0.7318 0.7181 0.7270 het 358.34 35 3 108639423 . C T 358.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.255;DP=35;Dels=0.00;FS=4.212;HRun=0;HaplotypeScore=0.0000;MQ=57.89;MQ0=0;MQRankSum=-0.579;QD=10.24;ReadPosRankSum=-1.540;VQSLOD=4.4492;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:388,0,575 3 108677821 108677821 C A exonic MORC1 synonymous SNV MORC1:NM_014429:exon28:c.G2946T:p.S982S 0.31 0.39 0.24 0.11 0.37 0.37 0.3310 0.4075 0.1709 0.0885 0.2863 0.3701 0.3160 0.3830 0.37 0.4 0.35 0.42 . rs2197737 COSM4002369 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3241 0.3972 0.1723 0.4822 0.0836 0.2757 0.3543 0.3398 0.3732 0.3359 0.4020 0.2127 0.44 0.0889 0.2848 0.3396 0.3542 het 120.81 13 3 108677821 . C A 120.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DP=13;Dels=0.00;FS=2.533;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=1.954;QD=9.29;ReadPosRankSum=0.101;VQSLOD=4.9549;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:151,0,222 3 108690221 108690221 G A exonic MORC1 nonsynonymous SNV MORC1:NM_014429:exon25:c.C2506T:p.H836Y 0.34 0.43 0.28 0.11 0.43 0.38 0.3725 0.4459 0.2042 0.0852 0.3457 0.4275 0.3678 0.3828 0.43 0.45 0.42 0.43 0.38 rs2593943 COSM4002370 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.685 0.102 N 1.000 0.090 P -1.32 0.007 N 3.54 0.048 T 1.43 0.008 N 0.021 0.013 -0.926 0.447 T 0.000 0.000 T . . . 0.632 0.154 8.373 0.470 0.038 0.009 0.035 N c -1.004 -0.781 0.000 0.029 0.487 0.133 0 2.2 0.268 1.050 0.298 0.244 0.267 0.730 0.287 0.996 0.625 4.125 0.095 . ENSG00000114487.5 Testis 0.3659 0.4482 0.2192 0.5497 0.0833 0.3475 0.4231 0.3984 0.3848 0.3932 0.4475 0.2476 0.5067 0.0885 0.3511 0.4090 0.4141 het 1242.42 115 3 108690221 . G A 1242.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.217;DP=115;Dels=0.00;FS=4.780;HRun=0;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;MQRankSum=1.653;QD=10.80;ReadPosRankSum=-0.134;VQSLOD=5.8524;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,52:115:99:1272,0,1681 3 108719470 108719470 C G exonic MORC1 synonymous SNV MORC1:NM_014429:exon21:c.G2121C:p.L707L 0.21 0.27 0.2 0.028 0.27 0.25 0.2431 0.2805 0.1390 0.0213 0.2251 0.2810 0.2572 0.2622 0.28 0.29 0.28 0.23 0.26 rs3762698 COSM4157124 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2372 0.2780 0.1443 0.3782 0.0197 0.2270 0.2758 0.2664 0.2577 0.2500 0.2737 0.1706 0.3344 0.0185 0.2329 0.2669 0.2648 het 1827.55 164 3 108719470 . C G 1827.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.469;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4071;MQ=57.93;MQ0=0;MQRankSum=1.513;QD=11.14;ReadPosRankSum=1.010;VQSLOD=4.4103;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,73:164:99:1858,0,2252 3 108754238 108754238 A T exonic MORC1 nonsynonymous SNV MORC1:NM_014429:exon15:c.T1408A:p.F470I 0.89 0.63 0.94 1. 0.99 0.98 0.9548 0.6898 0.9741 1 0.9906 0.9803 0.9625 0.9669 0.88 0.7 0.98 0.88 0.93 rs4855576 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.772 0.095 N 1 0.090 P -2.25 0.001 N 3.54 0.048 T 2.37 0.003 N 0.025 0.007 -1.029 0.208 T 0.000 0.000 T . . . -1.601 0.015 0.002 0.260 0.012 0.002 0.013 N c -1.902 -1.929 0.092 0.162 0.554 0.246 0 -8.08 0.010 -2.201 0.013 -0.342 0.072 0.000 0.063 0.116 0.195 3.673 0.078 . . . 0.9599 0.6742 0.9710 0.9630 0.9999 0.9900 0.9806 0.9592 0.9648 0.9008 0.6979 0.9669 0.9567 1 0.9867 0.9796 0.9646 hom 3026.02 107 3 108754238 . A T 3026.02 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7046;MQ=58.46;MQ0=0;QD=28.28;VQSLOD=7.5857;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3059,241,0 3 108754260 108754260 A G exonic MORC1 synonymous SNV MORC1:NM_014429:exon15:c.T1386C:p.D462D 0.36 0.51 0.29 0.11 0.43 0.38 0.3798 0.5194 0.2079 0.0851 0.3437 0.4281 0.3731 0.3855 0.46 0.53 0.42 0.43 0.33 rs3762696 COSM4002371 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3650 0.5042 0.2039 0.5461 0.0790 0.3437 0.4168 0.3942 0.3726 0.4112 0.5172 0.2463 0.5033 0.0891 0.3395 0.4077 0.4116 het 910.63 73 3 108754260 . A G 910.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.754;DP=73;Dels=0.00;FS=6.298;HRun=0;HaplotypeScore=0.5784;MQ=58.38;MQ0=0;MQRankSum=2.466;QD=12.47;ReadPosRankSum=-0.593;VQSLOD=4.3474;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,33:73:99:941,0,1088 3 109052732 109052732 T C exonic DPPA4 nonsynonymous SNV DPPA4:NM_001348928:exon2:c.A7G:p.I3V,DPPA4:NM_001348929:exon2:c.A163G:p.I55V,DPPA4:NM_018189:exon2:c.A163G:p.I55V 0.48 0.22 0.47 0.75 0.48 0.57 0.4934 0.2484 0.5493 0.7267 0.5602 0.4736 0.5099 0.5385 0.39 0.25 0.47 0.4 0.41 rs3762648 COSM3736301 2(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.33 0.131 T 0.0 0.026 B 0.001 0.040 B 0.001 0.007 N 1 0.090 P -1.355 0.007 N 2.01 0.589 T 0.34 0.038 N 0.065 0.051 -1.015 0.255 T 0.000 0.000 T . . . -2.563 0.003 0.001 0.179 0.005 0.007 0.029 N c -1.707 -1.772 1.000 0.747 0.543 0.218 0 -6.02 0.020 -1.088 0.035 -0.435 0.058 0.000 0.063 0.000 0.016 6.703 0.223 . ENSG00000121570.8|ENSG00000121570.8|ENSG00000121570.8|ENSG00000121570.8 Brain_Caudate_basal_ganglia|Brain_Putamen_basal_ganglia|Heart_Atrial_Appendage|Whole_Blood 0.5010 0.2464 0.5384 0.4279 0.7336 0.5647 0.4725 0.4987 0.5373 0.4436 0.2511 0.5348 0.4669 0.7295 0.5607 0.4896 0.4807 het 1751.69 148 3 109052732 . T C 1751.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.597;DP=148;Dels=0.00;FS=1.291;HRun=0;HaplotypeScore=4.9943;MQ=59.55;MQ0=0;MQRankSum=1.910;QD=11.84;ReadPosRankSum=-0.056;VQSLOD=5.1798;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,68:148:99:1782,0,1913 3 111356083 111356083 G C exonic CD96 synonymous SNV CD96:NM_005816:exon11:c.G1362C:p.P454P,CD96:NM_198196:exon12:c.G1410C:p.P470P 1. 0.99 1. 1. 1. 1. 0.9988 0.9871 0.9994 1 1 1.0000 1 1 1. 0.99 1. 1. 0.99 rs1533270 . . Benign C_syndrome RCV000324343.1 MedGen:OMIM:Orphanet C0796095:211750:ORPHA1308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9878 0.9994 1 1 1 1.0000 0.9991 1 0.9961 0.9863 0.9988 1 1 1 1 0.9990 hom 2443.98 87 3 111356083 . G C 2443.98 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;QD=28.09;VQSLOD=7.4043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2477,184,0 3 111799845 111799845 A T exonic TMPRSS7 nonsynonymous SNV TMPRSS7:NM_001042575:exon16:c.A2068T:p.S690C 0.91 0.76 0.93 0.99 0.95 0.97 0.9442 0.7878 0.9407 0.9854 0.9403 0.9556 0.9722 0.9720 0.9 0.8 0.96 0.9 0.89 rs340151 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.220 P -2.69 0.000 N 0.75 0.502 T 9.39 0.000 N 0.245 0.299 -0.939 0.428 T 0.000 0.000 T . . . 1.112 0.201 11.28 0.095 0.001 0.183 0.200 N c -0.919 -0.505 1.000 0.416 0.487 0.133 0 5.75 0.904 5.768 0.683 0.139 0.223 1.000 0.715 0.998 0.697 11.529 0.497 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000174500.8 Pancreas 0.9469 0.7837 0.9436 0.9454 0.9851 0.9428 0.9581 0.9515 0.9721 0.9121 0.7983 0.9330 0.9338 0.9827 0.9360 0.9612 0.9450 het 2757.20 216 3 111799845 . A T 2757.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.922;DP=216;Dels=0.00;FS=1.657;HRun=0;HaplotypeScore=10.1124;MQ=58.56;MQ0=0;MQRankSum=-0.585;QD=12.76;ReadPosRankSum=0.514;VQSLOD=4.0942;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,105:216:99:2787,0,2936 3 111828423 111828423 G A exonic C3orf52 nonsynonymous SNV C3orf52:NM_024616:exon4:c.G430A:p.G144S 0.98 0.91 1. 1. 1. 1. 0.9932 0.9200 0.9974 1 1 1.0000 1 0.9999 0.98 0.92 1. 0.98 . rs340167 . . . . . . . . . . . . . 0.775 0.033 T 0.0 0.026 B 0.0 0.013 B 0.016 0.282 N 1.000 0.588 P -1.89 0.002 N 3.29 0.065 T 0.75 0.020 N 0.005 0.025 -1.024 0.225 T 0.000 0.000 T . . . 2.373 0.346 18.64 0.815 0.132 0.035 0.086 N c -0.988 -0.760 1.000 0.747 0.615 0.372 0 2.53 0.295 1.551 0.356 0.228 0.256 0.991 0.370 0.943 0.417 5.819 0.177 . . . 0.9944 0.9174 0.9971 1 1 1 0.9999 0.9983 0.9998 0.9791 0.9273 0.9952 1 1 1 0.9997 0.9959 hom 1078.40 41 3 111828423 . G A 1078.40 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=26.30;VQSLOD=6.9865;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:81.27:1111,81,0 3 111918215 111918215 C T exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon19:c.G2332A:p.G778S,SLC9C1:NM_183061:exon20:c.G2476A:p.G826S 0.34 0.37 0.4 0.34 0.24 0.34 0.3059 0.3578 0.4154 0.3822 0.2429 0.2659 0.2394 0.3478 0.3 0.36 0.27 . 0.22 rs28516377 COSM445305 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.314 0.142 T 0.004 0.296 B 0.006 0.243 B 0.895 0.073 N 1 0.090 P 0.55 0.145 N -0.98 0.759 T -0.25 0.110 N 0.04 0.020 -1.087 0.060 T 0.000 0.000 T . . . -1.490 0.017 0.003 0.422 0.031 0.002 0.011 N c -1.883 -1.878 0.001 0.074 0.554 0.246 0 -3.0 0.051 0.090 0.147 -1.320 0.013 0.007 0.175 0.000 0.016 8.727 0.335 . . . 0.3046 0.3587 0.3976 0.2613 0.3857 0.2501 0.2664 0.28 0.3408 0.2978 0.3414 0.3789 0.2219 0.3889 0.2530 0.2700 0.2982 het 398.32 63 3 111918215 . C T 398.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.070;DP=63;Dels=0.00;FS=1.051;HRun=0;HaplotypeScore=1.9968;MQ=57.02;MQ0=0;MQRankSum=1.061;QD=6.32;ReadPosRankSum=2.315;VQSLOD=2.3364;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,17:63:99:428,0,1212 3 111921116 111921116 C A exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon17:c.G2159T:p.S720I,SLC9C1:NM_183061:exon18:c.G2303T:p.S768I 0.34 0.37 0.4 0.34 0.24 0.34 0.3050 0.3564 0.4140 0.3821 0.2435 0.2655 0.2395 0.3450 0.3 0.36 0.27 0.29 0.25 rs9288938 COSM4417713 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(oesophagus) . . . . . . . . . . . 0.097 0.309 T 0.906 0.480 P 0.747 0.541 P 0.005 0.329 N 0.995 0.234 P 2.43 0.707 M -1.17 0.782 T -4.4 0.773 D 0.106 0.112 -1.055 0.131 T 0.000 0.000 T . . . 6.225 0.859 28.8 0.995 0.708 0.672 0.331 D c 0.087 0.061 0.000 0.012 0.554 0.246 0 1.96 0.251 0.121 0.154 -0.079 0.119 0.987 0.361 0.902 0.382 6.080 0.190 . . . 0.3067 0.3579 0.3961 0.2637 0.3873 0.2507 0.2671 0.2810 0.3423 0.2978 0.3403 0.3753 0.2219 0.3871 0.2529 0.2712 0.2975 het 629.12 60 3 111921116 . C A 629.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.080;DP=60;Dels=0.00;FS=5.468;HRun=2;HaplotypeScore=3.9880;MQ=58.13;MQ0=0;MQRankSum=0.119;QD=10.49;ReadPosRankSum=-0.267;VQSLOD=4.9080;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:659,0,891 3 111921225 111921225 G T exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon17:c.C2050A:p.Q684K,SLC9C1:NM_183061:exon18:c.C2194A:p.Q732K 0.83 0.7 0.85 0.99 0.73 0.93 0.7922 0.7123 0.8918 0.9888 0.6635 0.7437 0.7737 0.9181 0.74 0.71 0.75 0.83 0.7 rs6781844 . . . . . . . . . . . . . 0.507 0.076 T 0.074 0.357 B 0.064 0.287 B 0.119 0.191 N 0.994 0.235 P 2 0.545 M -0.96 0.756 T -1.51 0.368 N 0.068 0.055 -0.916 0.461 T 0.000 0.000 T . . . 1.203 0.210 11.76 0.918 0.205 0.284 0.233 N c -0.613 -0.463 0.001 0.072 0.554 0.246 0 5.09 0.685 1.297 0.328 0.049 0.161 0.118 0.229 0.914 0.390 13.191 0.590 . ENSG00000114529.8|ENSG00000172139.10|ENSG00000174500.8|ENSG00000261488.1|ENSG00000172139.10 Pancreas|Pancreas|Pancreas|Pancreas|Testis 0.7964 0.7144 0.8822 0.7095 0.9887 0.6681 0.7537 0.7698 0.9201 0.7429 0.7066 0.8489 0.7119 0.9876 0.6772 0.7471 0.7526 het 976.06 78 3 111921225 . G T 976.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.107;DP=78;Dels=0.00;FS=1.868;HRun=3;HaplotypeScore=1.7608;MQ=59.17;MQ0=0;MQRankSum=-0.180;QD=12.51;ReadPosRankSum=-1.089;VQSLOD=6.5936;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,39:78:99:1006,0,1125 3 111923123 111923123 G A exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon16:c.C1970T:p.T657I,SLC9C1:NM_183061:exon17:c.C2114T:p.T705I 0.83 0.7 0.85 0.99 0.73 0.93 0.7925 0.7133 0.8925 0.9887 0.6639 0.7438 0.7738 0.9181 0.74 0.71 0.75 0.83 0.52 rs4434123 . . . . . . . . . . . . . 0.774 0.033 T 0.001 0.067 B 0.002 0.063 B 0.918 0.075 N 1 0.090 P -0.475 0.027 N -1.24 0.790 T -0.43 0.152 N 0.014 0.002 -0.927 0.446 T 0.000 0.000 T . . . -0.942 0.034 0.021 0.482 0.040 0.003 0.018 N c -1.579 -1.544 0.000 0.012 0.554 0.246 0 -3.05 0.050 -1.066 0.035 -0.378 0.066 0.000 0.063 0.001 0.043 1.162 0.017 . ENSG00000114529.8|ENSG00000172139.10|ENSG00000174500.8|ENSG00000261488.1|ENSG00000172139.10 Pancreas|Pancreas|Pancreas|Pancreas|Testis 0.7803 0.7051 0.8787 0.7032 0.9890 0.6670 0.7478 0.7534 0.9145 0.7429 0.7069 0.8493 0.7119 0.9876 0.6774 0.7468 0.7526 het 341.22 47 3 111923123 . G A 341.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.671;DP=47;Dels=0.00;FS=1.226;HRun=1;HaplotypeScore=1.7608;MQ=59.51;MQ0=0;MQRankSum=-0.999;QD=7.26;ReadPosRankSum=-0.011;VQSLOD=5.6009;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,16:47:99:371,0,941 3 111962851 111962851 T C exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon10:c.A1126G:p.T376A,SLC9C1:NM_183061:exon11:c.A1270G:p.T424A 0.32 0.34 0.4 0.33 0.24 0.33 0.3032 0.3270 0.4132 0.3685 0.2445 0.2676 0.2432 0.3494 0.29 0.33 0.27 0.29 0.25 rs6768523 COSM4416503 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.695 0.042 T 0.202 0.343 B 0.281 0.386 B 0.944 0.076 N 0.947 0.266 P 1.845 0.488 L -1.04 0.766 T -1.75 0.446 N 0.046 0.026 -1.068 0.098 T 0.000 0.000 T . . . 0.719 0.162 8.948 0.600 0.062 0.211 0.211 N c -0.447 -0.417 0.000 0.062 0.554 0.283 0 3.96 0.449 0.072 0.144 0.992 0.602 0.200 0.241 0.979 0.486 7.641 0.273 Cation/H+ exchanger ENSG00000172139.10 Testis 0.3014 0.3234 0.3917 0.2629 0.3684 0.2511 0.2663 0.2762 0.3381 0.2883 0.3116 0.3747 0.2219 0.3708 0.2530 0.2704 0.2914 het 1144.73 106 3 111962851 . T C 1144.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.383;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.28;MQ0=0;MQRankSum=0.035;QD=10.80;ReadPosRankSum=-1.946;VQSLOD=6.0162;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,50:106:99:1175,0,1306 3 111981849 111981849 C T exonic SLC9C1 synonymous SNV SLC9C1:NM_001320531:exon9:c.G975A:p.K325K,SLC9C1:NM_183061:exon10:c.G1119A:p.K373K 0.64 0.48 0.71 0.77 0.6 0.72 0.6359 0.4957 0.7439 0.7974 0.5351 0.6070 0.6098 0.7231 0.58 0.5 0.62 0.66 0.5 rs9860819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6379 0.4830 0.7321 0.5541 0.7890 0.5411 0.6141 0.6073 0.7223 0.5779 0.4829 0.7248 0.5135 0.8037 0.5486 0.6066 0.6142 het 1038.33 85 3 111981849 . C T 1038.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.541;DP=85;Dels=0.00;FS=0.842;HRun=2;HaplotypeScore=0.8941;MQ=59.18;MQ0=0;MQRankSum=1.358;QD=12.22;ReadPosRankSum=-0.251;VQSLOD=6.3193;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,42:85:99:1068,0,1190 3 111981878 111981878 T C exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon9:c.A946G:p.I316V,SLC9C1:NM_183061:exon10:c.A1090G:p.I364V 0.64 0.48 0.71 0.77 0.6 0.72 0.6360 0.4953 0.7439 0.7974 0.5351 0.6071 0.6089 0.7231 0.58 0.5 0.62 0.66 0.52 rs9809384 . . . . . . . . . . . . . 0.181 0.219 T 0.0 0.026 B 0.0 0.013 B 0.005 0.333 N 1.000 0.090 P 0 0.065 N 2.43 0.153 T 0.76 0.020 N 0.012 0.002 -1.066 0.104 T 0.000 0.000 T . . . 0.705 0.161 8.860 0.915 0.201 0.028 0.074 N c -0.792 -0.575 0.001 0.073 0.487 0.133 0 4.91 0.638 1.673 0.369 -0.399 0.062 1.000 0.715 0.949 0.424 9.635 0.388 Cation/H+ exchanger ENSG00000174500.8|ENSG00000261488.1|ENSG00000172139.10 Pancreas|Pancreas|Testis 0.6382 0.4823 0.7330 0.5548 0.7896 0.5415 0.6141 0.6074 0.7221 0.5775 0.4825 0.7261 0.5168 0.8049 0.5486 0.6058 0.6145 het 1097.05 107 3 111981878 . T C 1097.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.274;DP=107;Dels=0.00;FS=3.605;HRun=2;HaplotypeScore=1.9575;MQ=58.38;MQ0=0;MQRankSum=-0.247;QD=10.25;ReadPosRankSum=1.239;VQSLOD=5.3553;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,50:107:99:1127,0,1459 3 111981924 111981924 T C exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon9:c.A900G:p.I300M,SLC9C1:NM_183061:exon10:c.A1044G:p.I348M 0.64 0.48 0.71 0.77 0.6 0.72 0.6359 0.4955 0.7444 0.7975 0.5353 0.6072 0.6091 0.7223 0.58 0.5 0.62 0.65 0.51 rs9809404 COSM5765854 1(large_intestine) . . . . . . . . . . . 0.658 0.071 T 0.0 0.026 B 0.001 0.040 B 0.050 0.231 N 1 0.090 P -1.935 0.002 N 2.34 0.165 T 0.4 0.035 N 0.065 0.051 -1.061 0.115 T 0.000 0.000 T . . . -0.814 0.040 0.040 0.103 0.001 0.029 0.077 N c -0.953 -0.756 0.000 0.038 0.487 0.133 0 2.95 0.331 0.578 0.233 0.029 0.149 0.981 0.351 0.939 0.413 7.921 0.288 Cation/H+ exchanger ENSG00000174500.8|ENSG00000261488.1|ENSG00000172139.10 Pancreas|Pancreas|Testis 0.6130 0.4659 0.6867 0.5248 0.7675 0.5317 0.6004 0.5722 0.7047 0.5779 0.4828 0.7249 0.5167 0.8031 0.5487 0.6065 0.6145 het 870.51 80 3 111981924 . T C 870.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.971;DP=80;Dels=0.00;FS=4.603;HRun=0;HaplotypeScore=1.9325;MQ=58.48;MQ0=0;MQRankSum=-0.326;QD=10.88;ReadPosRankSum=-1.893;VQSLOD=4.8328;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,34:80:99:901,0,1153 3 111983157 111983157 G A exonic SLC9C1 synonymous SNV SLC9C1:NM_183061:exon9:c.C912T:p.L304L 0.12 0.13 0.14 0.011 0.26 0.065 0.2254 0.1744 0.1073 0.0163 0.3776 0.2963 0.2487 0.0973 0.21 0.15 0.24 0.11 0.15 rs62276974 COSM6019126 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2094 0.1445 0.1032 0.2889 0.0117 0.3321 0.2468 0.2325 0.0828 0.2150 0.1513 0.1322 0.27 0.0130 0.3246 0.2512 0.2381 het 381.16 28 3 111983157 . G A 381.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.273;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8561;MQ=58.50;MQ0=0;MQRankSum=0.302;QD=13.61;ReadPosRankSum=0.487;VQSLOD=5.3734;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,16:28:99:411,0,273 3 111985107 111985107 T C exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon8:c.A856G:p.I286V,SLC9C1:NM_183061:exon8:c.A856G:p.I286V 0.33 0.34 0.4 0.34 0.24 0.34 0.3035 0.3301 0.4154 0.3836 0.2439 0.2662 0.2389 0.3448 0.29 0.34 0.27 0.27 0.25 rs9872691 COSM4002383 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.257 0.154 N 1.000 0.189 P -1.64 0.004 N 3.95 0.034 T 0.28 0.042 N 0.01 0.001 -0.970 0.372 T 0.000 0.000 T . . . -0.823 0.039 0.038 0.196 0.007 0.047 0.103 N c -0.921 -0.709 0.000 0.048 0.554 0.246 0 3.23 0.360 0.309 0.190 0.034 0.151 0.993 0.376 0.846 0.353 7.857 0.285 Cation/H+ exchanger ENSG00000172139.10 Testis 0.3056 0.3301 0.3970 0.2641 0.3888 0.2510 0.2677 0.2809 0.3432 0.2901 0.3158 0.3771 0.2219 0.3851 0.2527 0.2696 0.2974 het 1129.26 101 3 111985107 . T C 1129.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.403;DP=101;Dels=0.00;FS=1.620;HRun=0;HaplotypeScore=0.8667;MQ=59.07;MQ0=0;MQRankSum=-0.330;QD=11.18;ReadPosRankSum=1.996;VQSLOD=6.0304;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,48:101:99:1159,0,1256 3 111996554 111996554 T C exonic SLC9C1 nonsynonymous SNV SLC9C1:NM_001320531:exon5:c.A472G:p.I158V,SLC9C1:NM_183061:exon5:c.A472G:p.I158V 0.31 0.31 0.4 0.3 0.23 0.34 0.3006 0.3101 0.4156 0.3572 0.2414 0.2672 0.2378 0.3472 0.29 0.32 0.27 0.27 0.23 rs9828502 COSM4002385 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.158 0.239 T 0.002 0.102 B 0.005 0.145 B 0.002 0.367 N 1.000 0.090 P 1.52 0.385 L 2.59 0.133 T -0.69 0.234 N 0.067 0.088 -0.934 0.435 T 0.000 0.000 T . . . -2.086 0.007 0.001 0.281 0.014 0.247 0.223 N c -1.304 -1.283 0.004 0.102 0.487 0.133 0 -1.34 0.086 0.125 0.155 -0.924 0.025 0.997 0.399 0.151 0.205 5.697 0.170 Cation/H+ exchanger ENSG00000172139.10 Testis 0.2978 0.3034 0.3919 0.2622 0.3568 0.2482 0.2670 0.2768 0.3373 0.2815 0.2917 0.3744 0.2219 0.3535 0.2489 0.2708 0.2914 het 841.17 98 3 111996554 . T C 841.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.013;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.11;MQ0=0;MQRankSum=1.587;QD=8.58;ReadPosRankSum=0.539;VQSLOD=6.0505;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,40:98:99:871,0,1411 3 112059768 112059768 C G exonic CD200 nonsynonymous SNV CD200:NM_005944:exon2:c.C32G:p.S11C,CD200:NM_001004196:exon3:c.C107G:p.S36C 0.66 0.78 0.55 0.71 0.51 0.69 0.5991 0.7576 0.5726 0.7300 0.5313 0.5452 0.5925 0.6947 0.61 0.75 0.54 0.6 0.48 rs1131199 COSM4417751 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.041 0.240 N 1 0.468 P -2.015 0.002 N -0.41 0.694 T 2.65 0.002 N 0.065 0.058 -0.973 0.366 T 0.000 0.000 T . . . 0.428 0.135 6.856 0.159 0.004 0.010 0.038 N c -1.237 -1.076 1.000 0.413 0.635 0.413 0 -0.608 0.110 0.143 0.158 0.136 0.221 0.188 0.239 0.994 0.587 4.712 0.122 Immunoglobulin subtype|Immunoglobulin-like domain . . 0.5909 0.7608 0.5687 0.5709 0.7304 0.5346 0.5391 0.5620 0.6930 0.6076 0.7497 0.5458 0.5828 0.7259 0.5332 0.5376 0.5450 hom 3100.02 110 3 112059768 . C G 3100.02 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58.48;MQ0=0;QD=28.18;VQSLOD=7.5042;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3133,238,0 3 112185025 112185025 G A exonic BTLA nonsynonymous SNV BTLA:NM_001085357:exon4:c.C656T:p.P219L,BTLA:NM_181780:exon5:c.C800T:p.P267L 0.64 0.18 0.74 0.72 0.96 0.8 0.8330 0.2746 0.6428 0.7280 0.9696 0.9536 0.8921 0.8283 0.73 0.3 0.96 0.52 0.91 rs9288952 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.205 0.033 N 1 0.090 P 0 0.065 N 2.05 0.280 T 1.59 0.007 N 0.01 0.001 -1.024 0.222 T 0.000 0.000 T . . . -1.174 0.026 0.007 0.246 0.011 0.003 0.015 N c -1.561 -1.527 1.000 0.417 0.757 0.989 0 -0.709 0.106 0.104 0.150 -0.811 0.031 0.000 0.063 0.004 0.083 5.075 0.139 . ENSG00000138459.4|ENSG00000138459.4 Adipose_Subcutaneous|Lung 0.8378 0.2618 0.6583 0.9286 0.7225 0.9671 0.9562 0.8722 0.8249 0.7462 0.2820 0.6969 0.9470 0.7235 0.9685 0.9547 0.8961 hom 6163.20 183 3 112185025 . G A 6163.20 Mask AC=2;AF=1.00;AN=2;DP=183;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=33.68;VQSLOD=10.0609;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:6163,473,0 3 112190137 112190137 G T exonic BTLA nonsynonymous SNV BTLA:NM_181780:exon3:c.C469A:p.R157S 0.99 0.96 1. 0.99 1. 1. 0.9969 0.9702 0.9988 0.9949 1 1.0000 0.9978 0.9997 0.99 0.97 1. 0.99 1. rs2931761 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.973 0.081 N 1 0.090 P -1.445 0.006 N 2.04 0.208 T 1.32 0.009 N 0.022 0.153 -1.002 0.295 T 0.000 0.000 T . . . -0.356 0.064 0.494 0.379 0.025 0.001 0.008 N c -1.746 -1.729 1.000 0.747 0.722 0.854 0 -4.86 0.029 -1.490 0.024 0.088 0.194 0.000 0.063 0.651 0.299 1.509 0.023 . . . 0.9974 0.9679 0.9988 1 0.9945 1 1.0000 0.9982 0.9996 0.9912 0.9705 0.9976 1 0.9926 1 1 0.9990 hom 2694.78 82 3 112190137 . G T 2694.78 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.77;MQ0=0;QD=32.86;VQSLOD=9.4886;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:82:99:2728,214,0 3 112546306 112546306 C A exonic CD200R1L nonsynonymous SNV CD200R1L:NM_001008784:exon3:c.G338T:p.R113L,CD200R1L:NM_001199215:exon4:c.G275T:p.R92L 0.29 0.53 0.29 0.096 0.18 0.28 0.2365 0.4805 0.3033 0.1198 0.1896 0.1994 0.2081 0.2671 0.29 0.46 0.21 0.26 0.2 rs4682119 COSM4002388 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.024 0.477 D 0.319 0.312 B 0.03 0.205 B 0.079 0.023 N 1 0.090 P 0.69 0.170 N 3.02 0.090 T -2.64 0.566 D 0.05 0.031 -0.933 0.438 T 0.000 0.000 T . . . 1.302 0.221 12.28 0.670 0.080 0.015 0.050 N c -1.815 -1.887 0.040 0.145 0.487 0.133 0 -3.53 0.043 -1.095 0.034 -1.572 0.009 0.000 0.063 0.000 0.016 5.233 0.147 Immunoglobulin-like fold ENSG00000163607.10 Adrenal_Gland 0.2344 0.4794 0.3013 0.2146 0.1147 0.1949 0.2015 0.2123 0.2653 0.2790 0.4646 0.2823 0.2517 0.1180 0.2010 0.2115 0.2122 het 1399.80 133 3 112546306 . C A 1399.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.624;DP=133;Dels=0.00;FS=5.547;HRun=1;HaplotypeScore=0.0000;MQ=58.04;MQ0=0;MQRankSum=-0.516;QD=10.52;ReadPosRankSum=1.553;VQSLOD=3.7696;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,51:133:99:1430,0,2150 3 112642568 112642568 C G exonic CD200R1 nonsynonymous SNV CD200R1:NM_170780:exon7:c.G934C:p.E312Q,CD200R1:NM_138806:exon8:c.G1003C:p.E335Q 0.65 0.72 0.61 0.7 0.53 0.66 0.5704 0.6941 0.5563 0.6792 0.4871 0.5378 0.5519 0.6112 0.58 0.68 0.53 0.61 0.53 rs9865242 COSM3759608 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.486 0.050 N 1 0.090 P -1.65 0.004 N 2.55 0.138 T 0.63 0.024 N 0.013 0.002 -0.967 0.378 T 0.000 0.000 T . . . -1.351 0.021 0.004 0.046 0.000 0.000 0.002 N c -1.370 -1.266 0.000 0.069 0.554 0.246 0 2.49 0.291 -0.022 0.123 0.136 0.221 0.000 0.063 0.003 0.074 4.438 0.109 . . . 0.5629 0.6972 0.5505 0.4608 0.6729 0.4947 0.5423 0.5492 0.6081 0.5865 0.6942 0.5478 0.4767 0.6588 0.4843 0.5489 0.5184 het 676.38 91 3 112642568 . C G 676.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.607;DP=91;Dels=0.00;FS=0.850;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=0.348;QD=7.43;ReadPosRankSum=0.038;VQSLOD=4.7204;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,31:91:99:706,0,1622 3 112647783 112647783 T C exonic CD200R1 nonsynonymous SNV CD200R1:NM_170780:exon4:c.A580G:p.S194G,CD200R1:NM_138806:exon5:c.A649G:p.S217G 0.0032 . 0.0072 . 0.006 0.0051 0.0111 0.0038 0.0042 0 0.0082 0.0156 0.0044 0.0095 0.013 0.0045 0.017 . 0.033 rs34985808 COSM1417812 1(oesophagus) . . . . . . . . . . . 0.896 0.025 T 0.0 0.026 B 0.0 0.013 B 0.520 0.052 N 1 0.090 N -0.605 0.022 N -1.01 0.762 T 0.85 0.017 N 0.013 0.003 -0.986 0.335 T 0.068 0.278 T . . . -2.029 0.008 0.001 0.139 0.003 0.004 0.018 N c -1.441 -1.358 0.002 0.087 0.563 0.310 0 0.174 0.143 -0.806 0.046 -0.435 0.058 0.000 0.063 0.058 0.169 4.425 0.108 CD80-like\x2c immunoglobulin C2-set|Immunoglobulin-like domain . . 0.0111 0.0036 0.0056 0.0077 0 0.0073 0.0171 0.0104 0.0095 0.0102 0.0025 0.0036 0.0066 0.0006 0.0083 0.0165 0.0122 het 1096.01 97 3 112647783 . T C 1096.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.972;DP=97;Dels=0.00;FS=3.964;HRun=2;HaplotypeScore=1.6208;MQ=59.33;MQ0=0;MQRankSum=1.826;QD=11.30;ReadPosRankSum=0.236;VQSLOD=5.3113;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,43:97:99:1126,0,1378 3 112647832 112647832 A C exonic CD200R1 nonsynonymous SNV CD200R1:NM_170780:exon4:c.T531G:p.H177Q,CD200R1:NM_138806:exon5:c.T600G:p.H200Q 0.65 0.72 0.61 0.7 0.53 0.66 0.5713 0.6944 0.5573 0.6800 0.4875 0.5384 0.5518 0.6139 0.58 0.68 0.53 0.61 0.55 rs9826308 COSM3759609 2(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.291 0.148 N 1.000 0.588 P . . . -0.79 0.737 T 4.01 0.001 N 0.007 0.000 -0.944 0.420 T 0.000 0.000 T . . . -0.844 0.038 0.034 0.289 0.015 0.006 0.025 N c -0.766 -0.775 0.010 0.119 0.554 0.246 0 3.59 0.401 0.357 0.198 -0.552 0.047 0.121 0.230 0.933 0.406 9.990 0.408 CD80-like\x2c immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like\x2c immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.5648 0.6993 0.5523 0.4630 0.6750 0.4954 0.5437 0.5507 0.6114 0.5866 0.6939 0.5478 0.4735 0.6561 0.4839 0.5497 0.5184 het 1382.14 92 3 112647832 . A C 1382.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.578;DP=92;Dels=0.00;FS=0.808;HRun=0;HaplotypeScore=2.6274;MQ=59.80;MQ0=0;MQRankSum=0.396;QD=15.02;ReadPosRankSum=-1.117;VQSLOD=5.5041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,50:92:99:1412,0,1004 3 112648125 112648125 G T exonic CD200R1 synonymous SNV CD200R1:NM_138940:exon3:c.C363A:p.T121T,CD200R1:NM_170780:exon3:c.C363A:p.T121T,CD200R1:NM_138806:exon4:c.C432A:p.T144T,CD200R1:NM_138939:exon4:c.C432A:p.T144T 0.65 0.72 0.61 0.7 0.53 0.66 0.5698 0.6941 0.5549 0.6789 0.4867 0.5373 0.5507 0.6110 0.3 0.42 0.24 . 0.55 rs6438117 COSM1742956;COSM1742955 1(kidney);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5639 0.6990 0.5517 0.4629 0.6744 0.4951 0.5430 0.5496 0.6087 0.5835 0.6915 0.5506 0.4735 0.6488 0.4837 0.5457 0.5154 het 1948.62 158 3 112648125 . G T 1948.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.307;DP=158;Dels=0.00;FS=2.050;HRun=0;HaplotypeScore=1.9827;MQ=57.71;MQ0=0;MQRankSum=0.136;QD=12.33;ReadPosRankSum=0.311;VQSLOD=4.8827;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,71:158:99:1979,0,2157 3 112648127 112648127 T G exonic CD200R1 nonsynonymous SNV CD200R1:NM_138940:exon3:c.A361C:p.T121P,CD200R1:NM_170780:exon3:c.A361C:p.T121P,CD200R1:NM_138806:exon4:c.A430C:p.T144P,CD200R1:NM_138939:exon4:c.A430C:p.T144P 0.65 0.72 0.61 0.7 0.53 0.66 0.5699 0.6942 0.5551 0.6789 0.4868 0.5373 0.5507 0.6111 0.28 0.39 0.23 . 0.55 rs4596117 COSM3759610;COSM3759611 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.165 0.175 N 1 0.090 P . . . 1.6 0.286 T 5.2 0.000 N 0.033 0.013 -0.937 0.431 T 0.000 0.000 T . . . -0.927 0.035 0.023 0.110 0.002 0.003 0.016 N c -0.670 -0.718 0.024 0.136 0.633 0.409 0 4.59 0.561 0.715 0.253 -0.443 0.057 0.030 0.202 0.019 0.132 3.940 0.088 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.5639 0.6992 0.5517 0.4629 0.6744 0.4952 0.5430 0.5496 0.6087 0.5834 0.6915 0.5493 0.4735 0.6488 0.4834 0.5456 0.5153 het 1893.16 152 3 112648127 . T G 1893.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.898;DP=152;Dels=0.00;FS=2.092;HRun=2;HaplotypeScore=1.9827;MQ=57.62;MQ0=0;MQRankSum=0.087;QD=12.46;ReadPosRankSum=0.454;VQSLOD=4.3335;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,68:152:99:1923,0,2051 3 112727184 112727184 A T exonic NEPRO nonsynonymous SNV NEPRO:NM_001319110:exon5:c.T568A:p.F190I,NEPRO:NM_001319109:exon6:c.T859A:p.F287I,NEPRO:NM_001319111:exon7:c.T460A:p.F154I,NEPRO:NM_001319112:exon7:c.T736A:p.F246I,NEPRO:NM_001319114:exon7:c.T661A:p.F221I,NEPRO:NM_001319115:exon7:c.T778A:p.F260I,NEPRO:NM_015412:exon8:c.T1069A:p.F357I 0.5 0.21 0.74 0.35 0.76 0.6 0.6698 0.2843 0.7751 0.3484 0.6435 0.7684 0.6927 0.6168 0.61 0.3 0.77 0.49 0.76 rs2306857 COSM4157131 1(thyroid) . . . . . . . . . . . 0.53 0.082 T 0.419 0.335 B 0.168 0.378 B 0.009 0.307 N 1.000 0.201 P 1.895 0.505 L 1.49 0.315 T -1.02 0.366 N 0.079 0.074 -1.024 0.222 T 0.000 0.000 T . . . 0.296 0.123 5.660 0.904 0.191 0.133 0.176 N c -0.771 -0.815 1.000 0.418 0.707 0.730 0 0.155 0.141 0.281 0.184 -0.252 0.090 0.065 0.217 0.055 0.167 4.365 0.106 . ENSG00000163607.10|ENSG00000163607.10|ENSG00000163607.10|ENSG00000163607.10|ENSG00000163607.10|ENSG00000163608.10 Adipose_Visceral_Omentum|Adrenal_Gland|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Pancreas|Whole_Blood 0.6808 0.2732 0.7729 0.7926 0.3516 0.6513 0.7707 0.7307 0.6182 0.6009 0.2893 0.7751 0.8079 0.3555 0.6532 0.7775 0.6721 hom 2096.73 69 3 112727184 . A T 2096.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.379;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6203;MQ=58.35;MQ0=0;MQRankSum=2.343;QD=30.39;ReadPosRankSum=0.769;VQSLOD=7.6100;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,67:69:99:2130,175,0 3 112993367 112993367 G A exonic BOC synonymous SNV BOC:NM_001301861:exon9:c.G1380A:p.P460P,BOC:NM_033254:exon9:c.G1380A:p.P460P 0.13 0.12 0.085 0.16 0.16 0.12 0.1500 0.1379 0.0771 0.1451 0.1160 0.1765 0.1320 0.1202 0.16 0.14 0.17 0.12 0.098 rs13094203 COSM3759615 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1448 0.1339 0.0792 0.1724 0.1428 0.1173 0.1771 0.1502 0.1183 0.1508 0.1234 0.0837 0.1854 0.1358 0.1158 0.1799 0.1472 hom 1914.51 59 3 112993367 . G A 1914.51 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=32.45;VQSLOD=9.4693;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1948,165,0 3 112997554 112997554 A G exonic BOC synonymous SNV BOC:NM_001301861:exon11:c.A1740G:p.K580K,BOC:NM_033254:exon11:c.A1737G:p.K579K 0.62 0.77 0.54 0.72 0.48 0.52 0.5820 0.7428 0.6437 0.7529 0.6390 0.5316 0.5934 0.5372 0.55 0.74 0.45 0.59 0.2 rs775228 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5234 0.7315 0.5791 0.4652 0.7220 0.5469 0.4459 0.4979 0.5239 0.5776 0.7346 0.5831 0.4934 0.7082 0.5493 0.4829 0.5297 hom 393.09 12 3 112997554 . A G 393.09 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;QD=32.76;VQSLOD=9.1183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:426,33,0 3 112998268 112998268 G A exonic BOC synonymous SNV BOC:NM_001301861:exon12:c.G1989A:p.S663S,BOC:NM_033254:exon12:c.G1986A:p.S662S 0.18 0.31 0.099 0.16 0.16 0.1 0.1630 0.3066 0.0846 0.1447 0.1165 0.1741 0.1373 0.1129 0.22 0.31 0.17 0.21 0.14 rs2650100 COSM3759617 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1555 0.3090 0.0872 0.1684 0.1416 0.1169 0.1759 0.1535 0.1117 0.2000 0.2983 0.0895 0.1887 0.1326 0.1154 0.1787 0.1622 hom 1777.44 62 3 112998268 . G A 1777.44 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=59.40;MQ0=0;QD=28.67;VQSLOD=7.8409;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:62:99:1810,147,0 3 113115543 113115543 C G exonic CFAP44 nonsynonymous SNV CFAP44:NM_001164496:exon14:c.G1601C:p.G534A,CFAP44:NM_018338:exon14:c.G1601C:p.G534A 0.01 0.0023 0.019 . 0.02 0.014 0.0238 0.0066 0.0077 0.0003 0.0282 0.0327 0.0222 0.0198 0.024 0.0091 0.031 . 0.066 rs77501585 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D . . . 1.000 0.491 D 2.76 0.809 M -0.48 0.703 T -4.66 0.795 D 0.365 0.621 -0.268 0.759 T 0.286 0.658 T . . . 4.081 0.548 23.7 0.999 0.940 0.987 0.851 D c 0.801 0.782 1.000 0.747 0.554 0.246 0 5.49 0.809 6.726 0.744 0.935 0.490 1.000 0.715 0.969 0.458 19.330 0.942 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.0234 0.0063 0.0074 0.0303 0.0002 0.0255 0.0342 0.0211 0.0202 0.0238 0.0064 0.0131 0.0298 0 0.0244 0.0368 0.0245 het 526.04 44 3 113115543 . C G 526.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.382;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=-1.608;QD=11.96;ReadPosRankSum=-0.200;VQSLOD=5.7951;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:556,0,545 3 113176122 113176122 G A exonic SPICE1 synonymous SNV SPICE1:NM_001331078:exon13:c.C1518T:p.P506P,SPICE1:NM_001331079:exon13:c.C1560T:p.P520P,SPICE1:NM_144718:exon13:c.C1518T:p.P506P 0.33 0.58 0.18 0.3 0.25 0.21 0.2597 0.5342 0.1270 0.2842 0.1914 0.2566 0.2643 0.2071 0.35 0.53 0.25 0.35 0.29 rs7637618 COSM3759620;COSM3759621 3(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2482 0.5344 0.1337 0.3973 0.2777 0.1893 0.2483 0.2579 0.2075 0.3236 0.5292 0.1599 0.4305 0.2416 0.1727 0.2599 0.2541 het 1599.74 137 3 113176122 . G A 1599.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.108;DP=137;Dels=0.00;FS=0.652;HRun=0;HaplotypeScore=0.8667;MQ=58.85;MQ0=0;MQRankSum=0.861;QD=11.68;ReadPosRankSum=0.093;VQSLOD=6.5818;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,64:137:99:1630,0,1913 3 113222036 113222036 G A exonic SPICE1 synonymous SNV SPICE1:NM_001331078:exon3:c.C138T:p.P46P,SPICE1:NM_001331079:exon3:c.C180T:p.P60P,SPICE1:NM_144718:exon3:c.C138T:p.P46P 0.24 0.37 0.14 0.22 0.23 0.19 0.2205 0.3477 0.1067 0.2071 0.1744 0.2345 0.2346 0.1873 0.27 0.35 0.23 0.24 0.17 rs11537650 COSM3759622;COSM3759623 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2100 0.3452 0.1103 0.3684 0.1950 0.1696 0.2238 0.2239 0.1836 0.2540 0.3508 0.1415 0.4106 0.1652 0.1572 0.2351 0.2188 het 379.86 57 3 113222036 . G A 379.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.006;DP=57;Dels=0.00;FS=1.074;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=0.059;QD=6.66;ReadPosRankSum=-0.025;VQSLOD=5.1014;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,19:57:99:410,0,922 3 113373930 113373930 A G exonic USF3 nonsynonymous SNV USF3:NM_001009899:exon7:c.T6599C:p.V2200A 1. 1. 1. 1. 1. 1. 0.9994 0.9964 0.9997 1 1 0.9994 1 1 1. 1. 1. 1. 1. rs930818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 0.9960 0.9996 0.9979 1 1.0000 0.9996 0.9993 1 0.9987 0.9968 0.9988 1 1 0.9997 0.9995 0.9969 hom 3505.28 113 3 113373930 . A G 3505.28 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=59.24;MQ0=0;QD=31.02;VQSLOD=8.7758;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3505,280,0 3 113377361 113377361 A G exonic USF3 synonymous SNV USF3:NM_001009899:exon7:c.T3168C:p.N1056N 0.3 0.44 0.27 0.22 0.36 0.18 0.3226 0.4171 0.2458 0.2425 0.3902 0.3572 0.3211 0.1952 0.36 0.4 0.34 0.28 0.27 rs9813630 COSM3759627 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3126 0.4101 0.2472 0.2552 0.2367 0.3959 0.3526 0.3138 0.1912 0.3650 0.4119 0.2578 0.2517 0.2198 0.4001 0.3560 0.3276 het 1921.72 170 3 113377361 . A G 1921.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.236;DP=170;DS;Dels=0.00;FS=1.278;HRun=0;HaplotypeScore=0.9578;MQ=59.75;MQ0=0;MQRankSum=-0.077;QD=11.30;ReadPosRankSum=-1.556;VQSLOD=6.3656;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,76:170:99:1952,0,2610 3 113379865 113379865 G C exonic USF3 nonsynonymous SNV USF3:NM_001009899:exon7:c.C664G:p.P222A 0.21 0.15 0.18 0.2 0.35 0.16 0.2885 0.1524 0.1608 0.2197 0.3906 0.3557 0.3011 0.1816 0.27 0.15 0.33 0.12 0.27 rs9866806 COSM3759629 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.102 0.302 T 0.104 0.244 B 0.023 0.188 B 0.117 0.191 N 0.921 0.588 P 0.345 0.112 N 2.6 0.132 T -0.71 0.202 N 0.082 0.080 -0.901 0.480 T 0.000 0.000 T . . . 0.318 0.125 5.867 0.810 0.130 0.900 0.506 D c -0.330 -0.141 1.000 0.747 0.563 0.310 0 3.04 0.340 0.735 0.256 0.154 0.240 1.000 0.715 1.000 0.888 1.794 0.028 . ENSG00000114573.5 Nerve_Tibial 0.2808 0.1412 0.1693 0.2533 0.2157 0.3957 0.3511 0.2923 0.1782 0.2848 0.1434 0.1802 0.2483 0.1969 0.4006 0.3546 0.3088 het 417.99 48 3 113379865 . G C 417.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.216;DP=48;Dels=0.00;FS=11.114;HRun=1;HaplotypeScore=3.3052;MQ=58.55;MQ0=0;MQRankSum=0.754;QD=8.71;ReadPosRankSum=0.043;VQSLOD=4.0850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,17:48:99:448,0,910 3 113655207 113655207 C T exonic GRAMD1C synonymous SNV GRAMD1C:NM_001172105:exon9:c.C936T:p.N312N,GRAMD1C:NM_017577:exon14:c.C1551T:p.N517N 0.23 0.037 0.32 0.27 0.33 0.29 0.2890 0.0748 0.3395 0.2545 0.2693 0.3196 0.2874 0.2906 0.24 0.083 0.32 0.27 0.3 rs3765114 COSM4002403 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2967 0.0697 0.3342 0.4118 0.2532 0.2713 0.3182 0.3112 0.2947 0.2332 0.0784 0.3317 0.4073 0.2519 0.2664 0.3015 0.2812 het 2101.53 184 3 113655207 . C T 2101.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.014;DP=184;Dels=0.00;FS=1.905;HRun=0;HaplotypeScore=2.4921;MQ=58.90;MQ0=0;MQRankSum=-1.251;QD=11.42;ReadPosRankSum=-1.383;VQSLOD=5.2727;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,87:184:99:2132,0,2464 3 113673125 113673125 A G exonic ZDHHC23 nonsynonymous SNV ZDHHC23:NM_001320466:exon3:c.A740G:p.K247R,ZDHHC23:NM_001320467:exon3:c.A740G:p.K247R,ZDHHC23:NM_001320468:exon3:c.A740G:p.K247R,ZDHHC23:NM_173570:exon3:c.A740G:p.K247R 0.6 0.65 0.53 0.67 0.56 0.54 0.5545 0.6247 0.5211 0.6442 0.5574 0.5411 0.5476 0.5399 0.56 0.61 0.54 0.62 0.43 rs11921691 COSM3724231 1(pancreas);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.845 0.028 T 0.0 0.026 B 0.0 0.013 B 0.269 0.152 N 1 0.090 P -1.265 0.007 N 1.81 0.252 T 0.08 0.060 N 0.012 0.001 -0.994 0.315 T 0.000 0.000 T . . . -1.034 0.031 0.014 0.334 0.020 0.002 0.011 N c -1.267 -1.183 1.000 0.489 0.706 0.609 0 2.19 0.268 2.307 0.431 0.138 0.222 0.817 0.297 0.003 0.074 10.130 0.417 . . . 0.5532 0.6244 0.5267 0.5646 0.6479 0.5571 0.5388 0.5456 0.5412 0.5587 0.6220 0.5322 0.5530 0.6689 0.5624 0.5121 0.5357 het 1226.59 98 3 113673125 . A G 1226.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.557;DP=98;Dels=0.00;FS=3.044;HRun=1;HaplotypeScore=4.2844;MQ=59.57;MQ0=0;MQRankSum=0.640;QD=12.52;ReadPosRankSum=1.010;VQSLOD=5.6581;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,47:98:99:1257,0,1448 3 113729787 113729787 G - exonic CCDC191 frameshift deletion CCDC191:NM_020817:exon9:c.1245delC:p.E416Sfs*2 0.0064 0.0008 0.0058 . 0.024 0.0031 0.0135 0.0026 0.0049 0 0.0145 0.0209 0.0055 0.0035 0.02 0.013 0.023 . . rs201851070 COSM327986;COSM5713093 1(pancreas);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0130 0.0027 0.0069 0.0270 0 0.0128 0.0199 0.0124 0.0033 0.0120 0.0027 0.0167 0.0397 0.0006 0.0163 0.0169 0.0102 het 4317.27 249 3 113729786 . CG C 4317.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.892;DP=249;FS=2.252;HRun=2;HaplotypeScore=616.5618;MQ=60.24;MQ0=0;MQRankSum=1.453;QD=17.34;ReadPosRankSum=0.923;set=variant2 GT:AD:DP:GQ:PL 0/1:118,131:249:99:4317,0,4123 3 113737568 113737568 G A exonic CCDC191 nonsynonymous SNV CCDC191:NM_020817:exon8:c.C1120T:p.R374W 0.013 0.0023 0.025 . 0.041 0.0061 0.0295 0.0069 0.0222 0.0003 0.0319 0.0432 0.0363 0.0075 0.03 0.0073 0.042 0.011 0.057 rs17603649 . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.966 0.722 D 0.005 0.330 N 0.666 0.331 D 2.395 0.694 M 0.9 0.571 T -4.55 0.841 D 0.462 0.513 -0.574 0.659 T 0.129 0.438 T . . . 7.425 0.951 34 0.999 0.987 0.916 0.536 D c 0.652 0.614 0.822 0.245 0.638 0.428 0 4.83 0.617 2.446 0.443 1.048 0.713 0.995 0.385 0.590 0.287 15.597 0.762 . . . 0.0312 0.0064 0.0239 0.1153 0.0004 0.0321 0.0397 0.0451 0.0078 0.0280 0.0072 0.0251 0.1258 0 0.0275 0.0408 0.0387 het 3050.90 222 3 113737568 . G A 3050.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.666;DP=222;Dels=0.00;FS=1.804;HRun=0;HaplotypeScore=3.7866;MQ=58.12;MQ0=0;MQRankSum=2.705;QD=13.74;ReadPosRankSum=1.375;VQSLOD=4.2703;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,117:222:99:3081,0,2629 3 113858350 113858350 C T exonic DRD3 synonymous SNV DRD3:NM_000796:exon5:c.G720A:p.Q240Q,DRD3:NM_033663:exon5:c.G720A:p.Q240Q,DRD3:NM_001282563:exon6:c.G720A:p.Q240Q,DRD3:NM_001290809:exon6:c.G720A:p.Q240Q 0.96 0.87 0.99 1. 1. 0.97 0.9848 0.8768 0.9925 0.9995 1 0.9995 0.9923 0.9740 0.96 0.87 1. 0.9 1. rs2251177 . . Likely benign Hereditary_Essential_Tremor RCV000370469.1 MedGen C0393615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9878 0.8763 0.9935 0.9999 0.9998 1.0000 0.9995 0.9932 0.9741 0.9645 0.8759 0.9964 1 0.9994 1 0.9997 0.9898 hom 7814.23 250 3 113858350 . C T 7814.23 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.7566;MQ=59.67;MQ0=0;QD=31.26;VQSLOD=2.4009;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7813,638,0 3 113890815 113890815 C T exonic DRD3 nonsynonymous SNV DRD3:NM_000796:exon2:c.G25A:p.G9S,DRD3:NM_033663:exon2:c.G25A:p.G9S,DRD3:NM_001282563:exon3:c.G25A:p.G9S,DRD3:NM_001290809:exon3:c.G25A:p.G9S 0.51 0.18 0.57 0.69 0.66 0.58 0.6568 0.3137 0.6084 0.7087 0.7035 0.7030 0.6905 0.6391 0.53 0.28 0.67 0.48 0.4 rs6280 COSM4157142 1(thyroid);1(upper_aerodigestive_tract) other|other|Likely benign Schizophrenia\x2c_susceptibility_to|Essential_tremor\x2c_susceptibility_to|Hereditary_Essential_Tremor RCV000018257.2|RCV000018258.2|RCV000381906.1 MedGen C0393615 . . . . . . 1.0 0.020 T 0.0 0.026 B 0.0 0.013 B 0.369 0.136 N 1 0.090 P . . . -0.56 0.712 T 0.98 0.020 N 0.054 0.036 -0.929 0.444 T 0.000 0.000 T . . . 0.114 0.105 3.761 0.822 0.136 0.004 0.019 N c -1.188 -1.198 0.003 0.099 0.497 0.185 0 -1.48 0.082 -0.471 0.067 -0.846 0.029 0.000 0.063 0.392 0.253 9.571 0.384 . ENSG00000163611.7 Liver 0.6288 0.2651 0.5490 0.7251 0.6949 0.6731 0.6793 0.6595 0.5933 0.5586 0.2618 0.5859 0.7616 0.6904 0.6674 0.6812 0.6327 hom 610.77 19 3 113890815 . C T 610.77 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.15;VQSLOD=14.3724;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:54.16:644,54,0 3 113955164 113955164 T G exonic ZNF80 nonsynonymous SNV ZNF80:NM_007136:exon1:c.A758C:p.D253A 0.69 0.85 0.6 0.55 0.68 0.71 0.6567 0.8129 0.6008 0.5370 0.6762 0.6436 0.6685 0.7049 0.7 0.8 0.64 0.74 0.53 rs3732782 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.625 0.004 N 2.6 0.132 T 5.01 0.000 N 0.034 0.014 -1.005 0.283 T 0.000 0.000 T . . . -0.779 0.041 0.048 0.846 0.149 0.006 0.025 N c -1.462 -1.401 0.027 0.138 0.497 0.185 0 2.14 0.264 -2.625 0.009 -0.398 0.063 0.000 0.063 0.322 0.241 5.674 0.169 Zinc finger C2H2-type/integrase DNA-binding domain . . 0.6519 0.8159 0.6025 0.7375 0.5317 0.6778 0.6350 0.6668 0.7041 0.6894 0.8064 0.6098 0.6921 0.5266 0.6801 0.6457 0.6833 het 1022.51 81 3 113955164 . T G 1022.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.524;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9937;MQ=58.55;MQ0=0;MQRankSum=0.722;QD=12.62;ReadPosRankSum=-1.184;VQSLOD=6.0340;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,40:81:99:1053,0,999 3 113955265 113955265 G A exonic ZNF80 synonymous SNV ZNF80:NM_007136:exon1:c.C657T:p.C219C 0.69 0.85 0.6 0.54 0.68 0.71 0.6566 0.8129 0.6006 0.5367 0.6762 0.6440 0.6685 0.7022 0.7 0.8 0.64 0.74 0.62 rs6438190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6519 0.8159 0.6026 0.7396 0.5317 0.6781 0.6353 0.6660 0.7027 0.6894 0.8063 0.6112 0.6867 0.5267 0.6798 0.6457 0.6852 het 1476.82 142 3 113955265 . G A 1476.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.076;DP=142;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=0.9933;MQ=58.66;MQ0=1;MQRankSum=2.274;QD=10.40;ReadPosRankSum=-0.156;VQSLOD=5.7537;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,61:142:99:1507,0,2260 3 113955320 113955320 C T exonic ZNF80 nonsynonymous SNV ZNF80:NM_007136:exon1:c.G602A:p.R201H 0.69 0.85 0.6 0.54 0.68 0.71 0.6566 0.8126 0.6010 0.5367 0.6762 0.6440 0.6685 0.7021 0.7 0.8 0.64 0.74 0.63 rs6438191 . . . . . . . . . . . . . 0.312 0.139 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.895 0.505 L 3.1 0.083 T -1.83 0.429 N 0.032 0.012 -1.087 0.060 T 0.000 0.000 T . . . 1.400 0.231 12.79 0.835 0.142 0.003 0.016 N c -1.266 -1.328 0.018 0.131 0.516 0.203 0 0.351 0.152 -2.418 0.011 -0.309 0.079 0.000 0.063 0.011 0.114 0.244 0.002 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.6519 0.8157 0.6026 0.7395 0.5316 0.6781 0.6353 0.6659 0.7026 0.6900 0.8068 0.6112 0.6879 0.5273 0.6799 0.6465 0.6857 het 1872.28 177 3 113955320 . C T 1872.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.281;DP=177;Dels=0.00;FS=1.213;HRun=0;HaplotypeScore=14.5113;MQ=59.23;MQ0=0;MQRankSum=0.556;QD=10.58;ReadPosRankSum=0.553;VQSLOD=2.5595;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,74:177:99:1902,0,2785 3 113955820 113955820 G C exonic ZNF80 synonymous SNV ZNF80:NM_007136:exon1:c.C102G:p.S34S 0.31 0.36 0.26 0.38 0.27 0.26 0.2766 0.3544 0.2474 0.3709 0.2722 0.2596 0.2963 0.2682 0.29 0.34 0.26 0.27 0.34 rs3732780 COSM4880446 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2746 0.3555 0.2431 0.2971 0.3657 0.2760 0.2577 0.2910 0.2675 0.2946 0.3466 0.2524 0.2947 0.3572 0.2763 0.2650 0.2831 het 2281.95 161 3 113955820 . G C 2281.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.277;DP=161;Dels=0.00;FS=1.391;HRun=0;HaplotypeScore=2.9427;MQ=59.43;MQ0=0;MQRankSum=2.071;QD=14.17;ReadPosRankSum=-1.090;VQSLOD=5.4808;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,81:161:99:2312,0,2211 3 118649060 118649060 G T exonic IGSF11 nonsynonymous SNV IGSF11:NM_001015887:exon2:c.C115A:p.P39T,IGSF11:NM_152538:exon4:c.C112A:p.P38T 0.86 0.98 0.87 0.8 0.76 0.86 0.8216 0.9586 0.8944 0.7790 0.8144 0.7818 0.7808 0.8725 0.84 0.95 0.78 0.84 0.81 rs2903250 . . . . . . . . . . . . . 1.0 0.022 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.204 P -1.53 0.005 N 0.05 0.619 T 2.51 0.002 N 0.027 0.009 -0.944 0.420 T 0.000 0.000 T . . . 1.469 0.239 13.15 0.230 0.010 0.343 0.248 N c -0.783 -0.475 0.298 0.192 0.638 0.428 0 5.27 0.737 2.771 0.471 0.152 0.238 1.000 0.715 0.985 0.512 7.294 0.254 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000144847.8 Nerve_Tibial 0.8221 0.9593 0.8846 0.7247 0.7840 0.8128 0.7891 0.7879 0.8710 0.8433 0.9547 0.8882 0.7351 0.8005 0.8116 0.7918 0.8153 hom 5397 180 3 118649060 . G T 5397 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3365;MQ=58.94;MQ0=0;QD=29.98;VQSLOD=8.9665;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5396,436,0 3 118866376 118866376 C T exonic C3orf30 nonsynonymous SNV C3orf30:NM_152539:exon1:c.C1340T:p.S447L 0.18 0.017 0.24 0.24 0.32 0.15 0.2585 0.0575 0.2557 0.2518 0.2390 0.3149 0.2871 0.1673 0.23 0.067 0.31 0.16 0.25 rs56317615 COSM3759633 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.124 0.274 T 0.99 0.615 D 0.808 0.567 P 0.158 0.178 N 1 0.090 P 1.245 0.315 L 2.58 0.134 T -2.03 0.466 N 0.113 0.437 -1.041 0.171 T 0.000 0.000 T . . . 1.150 0.205 11.48 0.633 0.070 0.042 0.096 N c -0.180 -0.356 0.893 0.259 0.487 0.133 0 3.62 0.405 0.558 0.230 0.920 0.431 0.000 0.063 0.001 0.043 8.404 0.316 . . . 0.2630 0.0542 0.2577 0.4039 0.2493 0.2467 0.3105 0.3076 0.1667 0.2300 0.0646 0.2566 0.4667 0.2612 0.2519 0.3098 0.2551 hom 2935.48 90 3 118866376 . C T 2935.48 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=58.71;MQ0=0;QD=32.62;VQSLOD=8.7978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2968,247,0 3 118909159 118909159 A G exonic UPK1B nonsynonymous SNV UPK1B:NM_006952:exon4:c.A338G:p.Q113R 0.92 0.89 0.92 0.93 0.97 0.87 0.9435 0.9221 0.9041 0.9213 0.9893 0.9670 0.9482 0.8824 0.95 0.92 0.97 0.88 0.98 rs9840317 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.370 N 1.000 0.090 P -0.65 0.021 N -1.05 0.767 T 2.0 0.013 N 0.03 0.210 -0.944 0.420 T 0.000 0.000 T . . . 0.830 0.173 9.649 0.852 0.152 0.048 0.104 N c -0.729 -0.469 1.000 0.517 0.487 0.133 0 4.57 0.557 2.715 0.466 0.076 0.183 0.998 0.411 0.992 0.562 6.345 0.204 . . . 0.9447 0.9217 0.9113 0.9480 0.9281 0.9879 0.9681 0.9465 0.8840 0.9554 0.9242 0.9165 0.9437 0.9414 0.9897 0.9698 0.9491 hom 5134.94 181 3 118909159 . A G 5134.94 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.10;MQ0=0;QD=28.37;VQSLOD=7.8883;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5134,394,0 3 118948716 118948716 G A exonic B4GALT4 synonymous SNV B4GALT4:NM_003778:exon3:c.C231T:p.C77C,B4GALT4:NM_212543:exon4:c.C231T:p.C77C 0.19 0.038 0.31 0.25 0.3 0.16 0.2552 0.0736 0.3282 0.2409 0.2149 0.2908 0.2907 0.1967 0.22 0.078 0.3 0.11 0.28 rs4422294 COSM149450 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2606 0.0722 0.3266 0.2756 0.2410 0.2137 0.2939 0.2881 0.1972 0.2159 0.0784 0.3337 0.2815 0.2457 0.2188 0.2805 0.2714 het 806.60 97 3 118948716 . G A 806.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.019;DP=97;Dels=0.00;FS=2.722;HRun=0;HaplotypeScore=1.9980;MQ=58.37;MQ0=0;MQRankSum=1.125;QD=8.32;ReadPosRankSum=-0.004;VQSLOD=4.8207;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,37:97:99:837,0,1509 3 119118104 119118104 A G exonic ARHGAP31 synonymous SNV ARHGAP31:NM_020754:exon9:c.A1065G:p.V355V 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1.0000 1 0.9999 . . . 1. 1. rs4688001 COSM4594499 1(upper_aerodigestive_tract) Benign Adams-Oliver_syndrome RCV000372854.1 MedGen:SNOMED_CT C0265268:34748004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 3167.99 105 3 119118104 . A G 3167.99 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=30.17;VQSLOD=8.5360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3201,241,0 3 119128398 119128398 G A exonic ARHGAP31 synonymous SNV ARHGAP31:NM_020754:exon11:c.G1701A:p.P567P 0.19 0.09 0.092 0.37 0.16 0.23 0.1706 0.1146 0.1099 0.3340 0.1142 0.1709 0.1393 0.1844 0.16 0.12 0.18 0.12 0.2 rs2305249 COSM149451 1(stomach);1(thyroid) Benign Adams-Oliver_syndrome RCV000399946.1 MedGen:SNOMED_CT C0265268:34748004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1687 0.1124 0.1068 0.1435 0.3359 0.1196 0.1771 0.1557 0.1861 0.1592 0.1174 0.1199 0.1325 0.3319 0.1274 0.1747 0.1626 het 464.56 55 3 119128398 . G A 464.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.336;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9536;MQ=60.00;MQ0=0;MQRankSum=-0.451;QD=8.45;ReadPosRankSum=0.204;VQSLOD=5.5386;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,19:55:99:495,0,958 3 119133183 119133183 G A exonic ARHGAP31 nonsynonymous SNV ARHGAP31:NM_020754:exon12:c.G2407A:p.G803S 0.85 0.93 0.76 0.85 0.79 0.86 0.8083 0.9178 0.7182 0.8667 0.8417 0.7847 0.7922 0.8586 0.83 0.92 0.79 0.92 0.68 rs3732413 COSM4157154 1(thyroid) Benign|Benign Adams-Oliver_syndrome|not_specified RCV000273195.1|RCV000454849.1 MedGen:SNOMED_CT|MedGen C0265268:34748004|CN169374 . . . . . . 0.818 0.030 T 0.0 0.026 B 0.0 0.013 B 0.994 0.080 N 1 0.090 P 0.65 0.162 N 3.49 0.051 T -0.15 0.093 N 0.017 0.003 -0.977 0.357 T 0.000 0.000 T . . . -0.662 0.047 0.088 0.335 0.020 0.004 0.019 N c -2.054 -2.139 1.000 0.747 0.707 0.730 0 -10.1 0.003 -2.341 0.012 -0.822 0.031 0.000 0.063 0.001 0.043 8.790 0.338 . . . 0.8053 0.9177 0.7290 0.7065 0.8685 0.8432 0.7897 0.7881 0.8612 0.8353 0.9112 0.7494 0.7367 0.8646 0.8377 0.7942 0.8361 hom 4378.45 136 3 119133183 . G A 4378.45 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;QD=32.19;VQSLOD=9.7684;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4378,337,0 3 119150836 119150836 C T exonic TMEM39A nonsynonymous SNV TMEM39A:NM_018266:exon9:c.G1459A:p.A487T 0.089 0.0083 0.066 0.072 0.14 0.17 0.1227 0.0287 0.0609 0.0792 0.1022 0.1533 0.1011 0.1339 0.12 0.036 0.16 0.054 0.18 rs1132200 COSM4157156 5(soft_tissue);1(thyroid) . . . . . . . . . . . 0.033 0.443 D 0.043 0.202 B 0.027 0.198 B 0.020 0.270 N 0.026 0.391 P 0.69 0.170 N 0.82 0.481 T -0.26 0.112 N 0.139 0.162 -1.102 0.038 T 0.000 0.001 T . . . 3.487 0.477 23.1 0.997 0.822 0.886 0.483 D c -0.113 0.128 0.992 0.327 0.707 0.730 0 5.65 0.868 4.419 0.593 0.935 0.490 1.000 0.715 1.000 0.888 14.482 0.670 . ENSG00000163389.6|ENSG00000163389.6 Artery_Tibial|Cells_Transformed_fibroblasts 0.1215 0.0263 0.0634 0.1137 0.0840 0.1052 0.1585 0.1209 0.1321 0.1088 0.0333 0.0827 0.1159 0.0805 0.1069 0.1560 0.1339 het 336.49 24 3 119150836 . C T 336.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.610;DP=24;Dels=0.00;FS=2.114;HRun=0;HaplotypeScore=2.5968;MQ=55.96;MQ0=0;MQRankSum=0.954;QD=14.02;ReadPosRankSum=0.000;VQSLOD=3.2190;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,15:24:99:366,0,251 3 119222456 119222456 G C exonic TIMMDC1 synonymous SNV TIMMDC1:NM_016589:exon3:c.G438C:p.V146V 0.21 0.17 0.099 0.36 0.16 0.22 0.2088 0.2234 0.1390 0.3518 0.1343 0.2067 0.1630 0.2018 0.19 0.21 0.18 0.12 0.15 rs1131265 COSM149452 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1756 0.2006 0.1081 0.1511 0.3297 0.1185 0.1820 0.1572 0.1795 0.1874 0.2077 0.1301 0.1424 0.3306 0.1280 0.1791 0.1735 het 239.91 22 3 119222456 . G C 239.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.591;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=57.20;MQ0=0;MQRankSum=1.839;QD=10.91;ReadPosRankSum=-0.788;VQSLOD=5.8054;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,11:22:99:270,0,265 3 119256056 119256056 T C exonic CD80 nonsynonymous SNV CD80:NM_005191:exon4:c.A628G:p.T210A 0.0056 0.0008 0.0058 . 0.017 0.0061 0.0101 0.0021 0.0026 0 0.0183 0.0131 0.0110 0.0104 0.01 0.003 0.014 . 0.016 rs62264488 COSM3759636 1(large_intestine) . . . . . . . . . . . 0.202 0.202 T 0.002 0.119 B 0.005 0.145 B 0.089 0.024 N 1 0.090 N 0.55 0.145 N 2.6 0.132 T -1.08 0.336 N 0.025 0.030 -1.024 0.225 T 0.011 0.041 T . . . -0.815 0.040 0.040 0.699 0.088 0.025 0.070 N c -1.091 -1.093 0.005 0.109 0.707 0.730 0 1.14 0.197 0.176 0.165 0.088 0.194 0.000 0.063 0.016 0.126 0.908 0.012 CD80-like\x2c immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.0110 0.0021 0.0031 0.0113 0 0.0187 0.0147 0.0093 0.0110 0.0129 0.0040 0.0024 0.0099 0 0.0223 0.0175 0.0193 het 2296.70 200 3 119256056 . T C 2296.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.961;DP=200;DS;Dels=0.00;FS=5.020;HRun=0;HaplotypeScore=3.8322;MQ=59.51;MQ0=0;MQRankSum=0.820;QD=11.48;ReadPosRankSum=-0.086;VQSLOD=4.6193;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,85:200:99:2327,0,3078 3 119263680 119263680 C T exonic CD80 synonymous SNV CD80:NM_005191:exon3:c.G135A:p.V45V 0.22 0.17 0.21 0.27 0.26 0.21 0.2518 0.1815 0.1986 0.3057 0.2739 0.2656 0.2704 0.2396 0.23 0.19 0.25 0.21 0.25 rs2228017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2483 0.1816 0.2011 0.2607 0.3036 0.2776 0.2581 0.2658 0.2382 0.2306 0.1773 0.2243 0.2583 0.2969 0.2678 0.2441 0.2531 het 1128.05 77 3 119263680 . C T 1128.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.884;DP=77;Dels=0.00;FS=1.068;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.202;QD=14.65;ReadPosRankSum=0.605;VQSLOD=6.3647;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,45:77:99:1158,0,938 3 119367390 119367390 T C exonic POPDC2 synonymous SNV POPDC2:NM_001308333:exon3:c.A726G:p.S242S,POPDC2:NM_022135:exon3:c.A726G:p.S242S 0.94 0.8 0.98 1. 1. 1. 0.9841 0.8274 0.9923 0.9997 1 0.9994 0.9945 0.9998 0.95 0.84 1. 0.88 0.97 rs2688643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9877 0.8280 0.9917 0.9991 0.9998 1 0.9994 0.9949 0.9998 0.9522 0.8334 0.9940 1 1 1 0.9993 0.9888 hom 3567.09 115 3 119367390 . T C 3567.09 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=59.13;MQ0=0;QD=31.02;VQSLOD=9.4787;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3566,289,0 3 119378872 119378872 G A exonic POPDC2 synonymous SNV POPDC2:NM_001308333:exon1:c.C399T:p.C133C,POPDC2:NM_022135:exon1:c.C399T:p.C133C 0.4 0.29 0.46 0.33 0.43 0.55 0.4503 0.3175 0.4797 0.3474 0.5301 0.4522 0.4747 0.5263 0.4 0.32 0.44 0.49 0.45 rs1880040 COSM3759639;COSM3759638 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4532 0.3206 0.4801 0.3651 0.3443 0.5268 0.4535 0.4530 0.5246 0.4243 0.3179 0.4833 0.3113 0.3401 0.5355 0.4643 0.4846 het 3011.55 234 3 119378872 . G A 3011.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.668;DP=234;DS;Dels=0.00;FS=4.535;HRun=0;HaplotypeScore=10.1117;MQ=59.12;MQ0=0;MQRankSum=1.613;QD=12.87;ReadPosRankSum=0.954;VQSLOD=4.0658;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,118:234:99:3042,0,2949 3 119378977 119378977 G A exonic POPDC2 synonymous SNV POPDC2:NM_001308333:exon1:c.C294T:p.R98R,POPDC2:NM_022135:exon1:c.C294T:p.R98R 0.084 0.017 0.095 0.001 0.16 0.17 0.1554 0.0340 0.0715 0.0013 0.2015 0.1956 0.1608 0.1904 0.14 0.037 0.19 0.054 0.2 rs2873788 COSM3759641;COSM3759640 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1560 0.0329 0.0752 0.2236 0.0014 0.1992 0.1960 0.1717 0.1916 0.1432 0.0374 0.0835 0.2086 0 0.1959 0.2053 0.2168 het 1889.86 125 3 119378977 . G A 1889.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.595;DP=125;Dels=0.00;FS=3.353;HRun=0;HaplotypeScore=3.9314;MQ=59.43;MQ0=0;MQRankSum=0.997;QD=15.12;ReadPosRankSum=-0.510;VQSLOD=5.7234;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,68:125:99:1920,0,1648 3 119379186 119379186 C T exonic POPDC2 nonsynonymous SNV POPDC2:NM_001308333:exon1:c.G85A:p.V29I,POPDC2:NM_022135:exon1:c.G85A:p.V29I 0.4 0.29 0.46 0.33 0.43 0.55 0.4499 0.3203 0.4791 0.3447 0.5294 0.4517 0.4746 0.5259 0.4 0.32 0.44 0.49 0.38 rs4688023 COSM3759642;COSM3759643 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.967 0.032 T 0.026 0.181 B 0.015 0.162 B 0.574 0.055 N 1 0.090 P 0.99 0.251 L 1.08 0.394 T 0.1 0.058 N 0.029 0.045 -0.947 0.414 T 0.000 0.000 T . . . -1.324 0.021 0.004 0.526 0.047 0.143 0.181 N c -1.360 -1.350 1.000 0.747 0.421 0.056 0 -5.63 0.023 -0.412 0.071 -0.444 0.057 0.000 0.063 0.895 0.377 10.922 0.462 . ENSG00000183833.12|ENSG00000121577.9|ENSG00000183833.12|ENSG00000121577.9|ENSG00000138495.2|ENSG00000121577.9|ENSG00000183833.12|ENSG00000121577.9|ENSG00000121577.9|ENSG00000121577.9|ENSG00000121577.9|ENSG00000183833.12|ENSG00000138495.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Spleen|Thyroid|Thyroid|Thyroid 0.4531 0.3232 0.4796 0.3650 0.3434 0.5267 0.4534 0.4520 0.5244 0.4250 0.3201 0.4833 0.3113 0.3387 0.5356 0.4644 0.4857 het 1386.99 94 3 119379186 . C T 1386.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.544;DP=94;Dels=0.00;FS=0.807;HRun=0;HaplotypeScore=1.7333;MQ=60.00;MQ0=0;MQRankSum=-0.236;QD=14.76;ReadPosRankSum=1.898;VQSLOD=5.8991;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,53:94:99:1417,0,1085 3 119426307 119426307 T C exonic MAATS1 synonymous SNV MAATS1:NM_001320317:exon2:c.T72C:p.Y24Y,MAATS1:NM_001320316:exon3:c.T198C:p.Y66Y,MAATS1:NM_033364:exon3:c.T258C:p.Y86Y 0.59 0.18 0.64 0.81 0.73 0.72 0.6802 0.2579 0.6508 0.8049 0.6786 0.7201 0.6976 0.7390 0.57 0.26 0.72 0.41 0.76 rs9848716 COSM4417961;COSM4417960 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6890 0.2532 0.6519 0.7383 0.8071 0.6856 0.7234 0.7131 0.7370 0.5954 0.2645 0.6415 0.7219 0.8146 0.6838 0.7319 0.7027 hom 2536.66 89 3 119426307 . T C 2536.66 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9717;MQ=59.74;MQ0=0;QD=28.50;VQSLOD=7.6585;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:89:99:2570,193,0 3 119434527 119434527 G C exonic MAATS1 nonsynonymous SNV MAATS1:NM_001320318:exon4:c.G241C:p.A81P,MAATS1:NM_001320317:exon5:c.G433C:p.A145P,MAATS1:NM_001320316:exon6:c.G559C:p.A187P,MAATS1:NM_033364:exon6:c.G619C:p.A207P 0.91 0.67 0.98 1. 1. 1. 0.9727 0.7015 0.9877 1 1 0.9992 0.9923 0.9996 0.9 0.71 1. 0.87 0.99 rs6438544 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.213 P -2.75 0.000 N 2.5 0.144 T 7.04 0.000 N 0.406 0.464 -0.939 0.428 T 0.000 0.000 T . . . 1.731 0.269 14.58 0.533 0.048 0.047 0.103 N c -0.876 -0.526 0.510 0.210 0.638 0.428 0 5.32 0.753 3.497 0.528 -0.015 0.131 1.000 0.715 0.997 0.653 15.823 0.784 MAATS1 domain . . 0.9785 0.6949 0.9869 0.9971 1 1 0.9992 0.9909 0.9995 0.9133 0.6966 0.9845 0.9967 1 1 0.9991 0.9827 hom 5435.59 159 3 119434527 . G C 5435.59 Mask AC=2;AF=1.00;AN=2;DP=159;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;QD=34.19;VQSLOD=9.3407;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5435,430,0 3 119533910 119533910 T C exonic NR1I2 synonymous SNV NR1I2:NM_003889:exon6:c.T879C:p.N293N,NR1I2:NM_022002:exon6:c.T996C:p.N332N,NR1I2:NM_033013:exon6:c.T768C:p.N256N 1. 1. 1. 1. 1. 1. 0.9999 0.9994 0.9999 1 1 0.9999 1 0.9998 1. 1. 1. 1. 1. rs4058490 COSM4157158 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9993 1.0000 1 1 1 1.0000 1 0.9998 0.9999 0.9997 1 1 1 1 1 1 hom 3223.52 105 3 119533910 . T C 3223.52 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.34;MQ0=0;QD=30.70;VQSLOD=9.0142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3257,271,0 3 119886548 119886548 G C exonic GPR156 synonymous SNV GPR156:NM_001168271:exon9:c.C1764G:p.L588L,GPR156:NM_153002:exon9:c.C1776G:p.L592L 0.9 0.88 0.93 0.93 0.93 0.86 0.9138 0.8802 0.9678 0.9171 0.9386 0.9186 0.9256 0.8644 0.9 0.88 0.92 0.88 0.88 rs9858566 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9162 0.8816 0.9606 0.9220 0.9146 0.9391 0.9172 0.9235 0.8618 0.9007 0.8765 0.9618 0.9305 0.9135 0.9345 0.9013 0.9033 het 1489.30 94 3 119886548 . G C 1489.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.535;DP=94;Dels=0.00;FS=2.713;HRun=2;HaplotypeScore=0.7887;MQ=59.66;MQ0=0;MQRankSum=0.072;QD=15.84;ReadPosRankSum=-0.004;VQSLOD=5.8952;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,50:94:99:1519,0,1173 3 119886776 119886776 T A exonic GPR156 nonsynonymous SNV GPR156:NM_001168271:exon9:c.A1536T:p.E512D,GPR156:NM_153002:exon9:c.A1548T:p.E516D 0.9 0.88 0.93 0.93 0.93 0.86 0.9130 0.8814 0.9675 0.9168 0.9386 0.9185 0.9240 0.8595 0.9 0.88 0.92 0.88 0.87 rs902790 COSM4157159 1(thyroid) . . . . . . . . . . . 0.816 0.031 T 0.0 0.026 B 0.0 0.013 B 0.071 0.022 N 1 0.090 P -0.805 0.016 N 2.02 0.211 T -0.12 0.088 N 0.013 0.003 -0.989 0.329 T 0.000 0.000 T . . . -1.563 0.015 0.002 0.221 0.009 0.007 0.030 N c -1.820 -1.742 1.000 0.409 0.554 0.283 0 0.369 0.153 -0.782 0.047 -0.637 0.042 0.000 0.063 0.000 0.016 0.406 0.004 . . . 0.9156 0.8829 0.9606 0.9218 0.9145 0.9390 0.9173 0.9230 0.8569 0.9009 0.8772 0.9618 0.9305 0.9134 0.9347 0.9013 0.9039 het 2957.04 244 3 119886776 . T A 2957.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.807;DP=244;Dels=0.00;FS=2.178;HRun=0;HaplotypeScore=6.7398;MQ=59.23;MQ0=0;MQRankSum=0.597;QD=12.12;ReadPosRankSum=-0.061;VQSLOD=5.0481;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,116:244:99:2987,0,3634 3 120352003 120352003 A G exonic HGD synonymous SNV HGD:NM_000187:exon13:c.T1179C:p.D393D 0.0068 . 0.01 . 0.012 0.015 0.0108 0.0020 0.0038 0.0005 0.0049 0.0122 0.0078 0.0232 0.011 0.003 0.015 . 0.016 rs146482816 COSM3759644 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0111 0.0018 0.0041 0.0229 0.0003 0.0043 0.0132 0.0095 0.0233 0.0078 0.0031 0.0107 0.0132 0 0.0043 0.0115 0.0132 het 1115.10 76 3 120352003 . A G 1115.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.672;DP=76;Dels=0.00;FS=3.747;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=1.205;QD=14.67;ReadPosRankSum=1.142;VQSLOD=4.3593;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,45:76:99:1145,0,845 3 120389316 120389316 T A exonic HGD nonsynonymous SNV HGD:NM_000187:exon4:c.A240T:p.Q80H 0.73 0.78 0.81 0.64 0.77 0.66 0.7353 0.7628 0.8070 0.6559 0.7241 0.7400 0.7324 0.6952 0.74 0.76 0.74 0.74 0.75 rs2255543 . . Benign|Benign not_specified|Alkaptonuria RCV000252512.1|RCV000306096.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0002066:203500:ORPHA56 . . . . . . 0.762 0.035 T 0.0 0.026 B 0.0 0.013 B 0.001 0.420 N 1 0.090 P -1.1 0.010 N -5.18 0.988 D 1.23 0.010 N 0.039 0.019 -0.937 0.432 T 0.000 0.000 T . . . 0.241 0.117 5.100 0.694 0.087 0.012 0.041 N c -1.281 -1.194 0.092 0.161 0.554 0.246 0 -2.23 0.065 -0.227 0.091 0.242 0.267 0.000 0.063 0.984 0.507 3.441 0.070 RmlC-like cupin domain . . 0.7407 0.7610 0.8139 0.7750 0.6558 0.7255 0.7414 0.7466 0.6949 0.7389 0.7606 0.8146 0.8 0.6471 0.7246 0.7346 0.7311 hom 5205.27 176 3 120389316 . T A 5205.27 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8490;MQ=58.93;MQ0=0;QD=29.58;VQSLOD=8.4185;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5205,400,0 3 120500093 120500093 C T exonic GTF2E1 nonsynonymous SNV GTF2E1:NM_005513:exon5:c.C1096T:p.P366S 0.17 0.0091 0.33 0.49 0.039 0.072 0.1132 0.0161 0.4509 0.5056 0.0499 0.0366 0.0828 0.0694 0.031 0.016 0.039 0.13 0.033 rs3732401 COSM5653975 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.627 0.052 T 0.845 0.447 P 0.503 0.459 P 0.000 0.843 D 0.000 0.588 P 2.485 0.726 M 0.9 0.453 T -0.16 0.095 N 0.147 0.174 -0.942 0.424 T 0.000 0.000 T . . . 4.476 0.599 24.2 0.997 0.832 0.918 0.541 D c 0.463 0.512 1.0 0.983 0.731 0.878 0 5.12 0.693 5.337 0.655 0.935 0.490 1.000 0.715 0.906 0.385 13.469 0.606 Transcription factor TFIIE alpha subunit\x2c C-terminal . . 0.1294 0.0154 0.4288 0.0223 0.5105 0.0537 0.0385 0.0939 0.0698 0.0667 0.0172 0.3577 0.0265 0.4957 0.0510 0.0373 0.0714 het 2313.74 184 3 120500093 . C T 2313.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.333;DP=184;Dels=0.00;FS=3.466;HRun=1;HaplotypeScore=4.7708;MQ=59.51;MQ0=0;MQRankSum=-0.247;QD=12.57;ReadPosRankSum=0.526;VQSLOD=5.3565;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:93,91:184:99:2344,0,2467 3 120976051 120976051 C G exonic STXBP5L nonsynonymous SNV STXBP5L:NM_001308330:exon17:c.C1703G:p.T568S,STXBP5L:NM_001348343:exon17:c.C1703G:p.T568S,STXBP5L:NM_001348344:exon17:c.C1703G:p.T568S,STXBP5L:NM_001348345:exon17:c.C1703G:p.T568S,STXBP5L:NM_014980:exon17:c.C1703G:p.T568S 0.09 0.091 0.1 0.004 0.2 0.05 0.1411 0.1017 0.0834 0.0012 0.1707 0.1916 0.1403 0.0622 0.16 0.1 0.19 0.087 0.23 rs17249244 COSM4157161 1(thyroid) . . . . . . . . . . . 0.986 0.025 T 0.013 0.154 B 0.006 0.112 B 0.000 0.629 D 0.002 0.440 P -0.06 0.049 N 1.56 0.296 T -0.22 0.140 N 0.079 0.269 -1.058 0.122 T 0.000 0.000 T . . . 1.358 0.227 12.57 0.775 0.115 0.961 0.673 D c -0.327 -0.035 0.232 0.185 0.638 0.428 0 5.49 0.809 5.216 0.649 0.807 0.329 1.000 0.715 0.998 0.697 16.033 0.803 . . . 0.1396 0.0993 0.0886 0.1401 0.0013 0.1700 0.1956 0.1510 0.0654 0.1480 0.1030 0.0947 0.1424 0.0006 0.1735 0.1868 0.1541 het 1152.92 118 3 120976051 . C G 1152.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.626;DP=118;Dels=0.00;FS=3.547;HRun=0;HaplotypeScore=3.4017;MQ=59.01;MQ0=0;MQRankSum=1.566;QD=9.77;ReadPosRankSum=-0.792;VQSLOD=4.8144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,50:118:99:1183,0,1802 3 121154974 121154974 T C exonic POLQ nonsynonymous SNV POLQ:NM_199420:exon28:c.A7538G:p.Q2513R 0.75 0.63 0.69 0.88 0.67 0.88 0.7217 0.6444 0.7117 0.8976 0.6837 0.6790 0.7357 0.8725 0.67 0.64 0.68 0.67 0.62 rs1381057 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.541 0.115 N 1 0.090 P -1.14 0.009 N 0.85 0.471 T 0.77 0.020 N 0.009 0.001 -0.965 0.382 T 0.000 0.000 T . . . -1.556 0.016 0.002 0.149 0.003 0.002 0.011 N c -1.592 -1.529 0.002 0.088 0.732 0.924 0 -0.307 0.121 -0.215 0.092 -1.003 0.022 0.000 0.063 0.086 0.183 7.627 0.272 DNA-directed DNA polymerase\x2c family A\x2c palm domain ENSG00000145087.8 Adrenal_Gland 0.7242 0.6438 0.7140 0.6890 0.9011 0.6839 0.6826 0.7042 0.8707 0.6799 0.6569 0.6957 0.6767 0.9017 0.7032 0.6616 0.7031 hom 4659.67 157 3 121154974 . T C 4659.67 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.04;MQ0=0;QD=29.68;VQSLOD=9.2578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4659,355,0 3 121208833 121208833 G C exonic POLQ nonsynonymous SNV POLQ:NM_199420:exon16:c.C2945G:p.T982R 0.7 0.54 0.63 0.88 0.61 0.85 0.6741 0.5598 0.6779 0.8964 0.6641 0.6282 0.6975 0.8222 0.6 0.55 0.63 0.58 0.51 rs3218649 COSM3759646 1(large_intestine) . . . . . . . . . . . 0.567 0.062 T 0.0 0.026 B 0.0 0.013 B 0.053 0.020 N 1 0.090 P -0.84 0.015 N 0.82 0.481 T -0.34 0.127 N 0.028 0.009 -1.009 0.273 T 0.000 0.000 T . . . -1.568 0.015 0.002 0.496 0.042 0.016 0.051 N c -1.743 -1.747 0.019 0.131 0.615 0.372 0 -3.86 0.039 -2.308 0.012 -2.693 0.002 0.000 0.063 0.006 0.095 8.791 0.338 . ENSG00000145087.8 Adrenal_Gland 0.6687 0.5542 0.6662 0.5710 0.8983 0.6576 0.6271 0.6453 0.8188 0.6272 0.5635 0.6376 0.5430 0.9020 0.6802 0.6208 0.6663 hom 1224.90 37 3 121208833 . G C 1224.90 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=33.11;VQSLOD=9.1240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1258,99,0 3 121238749 121238749 G A exonic POLQ synonymous SNV POLQ:NM_199420:exon9:c.C1437T:p.G479G 1. 0.99 1. 1. 1. 1. 0.9995 0.9949 0.9996 1 1 0.9999 1 1 1. 1. 1. 1. 1. rs702018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9949 0.9997 0.9989 1 1 1.0000 0.9996 1.0000 0.9983 0.9940 1 1 1 1 1 0.9990 hom 7423.10 244 3 121238749 . G A 7423.10 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1879;MQ=59.26;MQ0=0;QD=30.42;VQSLOD=7.3439;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,242:244:99:7422,608,0 3 121263720 121263720 C A exonic POLQ nonsynonymous SNV POLQ:NM_199420:exon2:c.G197T:p.R66I 0.99 0.96 1. 1. 1. 1. 0.9964 0.9610 0.9983 1 1 0.9999 0.9989 0.9999 0.99 0.97 1. 0.98 0.99 rs702017 . . . . . . . . . . . . . 0.525 0.071 T 0.0 0.026 B 0.0 0.013 B 0.572 0.112 N 1 0.090 P -1.67 0.004 N 0.86 0.468 T 1.7 0.006 N 0.062 0.047 -0.988 0.332 T 0.000 0.000 T . . . 0.494 0.141 7.389 0.745 0.104 0.029 0.076 N c -1.479 -1.425 1.000 0.441 0.609 0.349 0 -2.11 0.068 0.333 0.194 -0.123 0.113 0.001 0.137 0.374 0.250 11.088 0.471 . . . 0.9973 0.9610 0.9987 0.9989 1 1 0.9999 0.9985 0.9999 0.9896 0.9637 0.9988 1 1 1 0.9999 0.9959 hom 2251.10 76 3 121263720 . C A 2251.10 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4417;MQ=59.20;MQ0=0;QD=29.62;VQSLOD=8.8329;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2284,178,0 3 121350966 121350966 C G exonic HCLS1 nonsynonymous SNV HCLS1:NM_001292041:exon12:c.G1195C:p.V399L,HCLS1:NM_005335:exon13:c.G1306C:p.V436L 1. 0.99 0.99 1. 1. 1. 0.9987 0.9878 0.9991 0.9999 1 0.9998 0.9967 1 1. 0.99 1. 0.98 0.97 rs9869984 COSM4157164;COSM4157163 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.445 N 1 0.090 P -2.005 0.002 N 1.57 0.293 T 1.99 0.004 N 0.097 0.130 -0.987 0.333 T 0.000 0.000 T . . . -0.192 0.077 1.140 0.607 0.064 0.014 0.046 N c -1.354 -1.134 0.237 0.185 0.722 0.854 0 3.01 0.337 0.070 0.143 0.073 0.181 0.093 0.224 0.733 0.317 5.478 0.159 SH3 domain . . 0.9990 0.9879 0.9992 0.9988 0.9998 1 0.9999 0.9983 0.9999 0.9960 0.9862 1 1 1 1 0.9998 0.9980 hom 4618.65 148 3 121350966 . C G 4618.65 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5452;MQ=59.30;MQ0=0;QD=31.21;VQSLOD=8.9131;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4618,367,0 3 121351315 121351315 - GGCTCAGGCTCA exonic HCLS1 nonframeshift insertion HCLS1:NM_001292041:exon11:c.992_993insTGAGCCTGAGCC:p.E338_N339insPEPE,HCLS1:NM_005335:exon12:c.1103_1104insTGAGCCTGAGCC:p.E375_N376insPEPE 0.24 0.16 0.16 0.46 0.25 0.18 . . . . . . . . . . . . . rs372720825 COSM5826193;COSM1745440 4(urinary_tract);6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2210 0.1536 0.1647 0.26 0.4482 0.2037 0.2411 0.2381 het 6831.68 249 3 121351315 . G GGGCTCAGGCTCA 6831.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.536;DP=249;DS;FS=10.642;HRun=0;HaplotypeScore=2376.3540;MQ=54.41;MQ0=0;MQRankSum=-3.807;QD=27.33;ReadPosRankSum=-0.817;set=variant2 GT:AD:DP:GQ:PL 0/1:198,36:249:99:6832,0,7789 3 121353254 121353254 T C exonic HCLS1 nonsynonymous SNV HCLS1:NM_001292041:exon9:c.A592G:p.T198A,HCLS1:NM_005335:exon10:c.A703G:p.T235A 0.65 0.57 0.48 0.85 0.75 0.58 0.6997 0.6124 0.3993 0.8494 0.7425 0.7605 0.7219 0.6223 0.71 0.62 0.76 0.63 0.73 rs2070179 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 0.999 0.215 P -2.035 0.002 N 2.25 0.178 T 0.75 0.020 N 0.044 0.037 -0.986 0.337 T 0.000 0.000 T . . . 0.929 0.183 10.25 0.875 0.167 0.050 0.106 N c -0.752 -0.449 0.996 0.346 0.707 0.730 0 5.29 0.743 2.002 0.402 0.040 0.155 1.000 0.715 0.998 0.697 10.007 0.409 . ENSG00000180353.6 Esophagus_Muscularis 0.6895 0.6144 0.4133 0.7282 0.8516 0.7434 0.7611 0.7277 0.6230 0.7096 0.6134 0.4748 0.6867 0.8443 0.7421 0.7561 0.7244 hom 4456.83 138 3 121353254 . T C 4456.83 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8392;MQ=59.28;MQ0=0;QD=32.30;VQSLOD=9.6645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4456,346,0 3 121354583 121354583 G A exonic HCLS1 synonymous SNV HCLS1:NM_001292041:exon8:c.C579T:p.A193A,HCLS1:NM_005335:exon9:c.C690T:p.A230A 0.22 0.051 0.16 0.48 0.25 0.19 0.2303 0.0730 0.1310 0.4564 0.2020 0.2486 0.2511 0.2172 0.19 0.075 0.25 0.18 0.25 rs3772126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2296 0.0708 0.1375 0.2897 0.4686 0.2059 0.2434 0.2597 0.2175 0.2029 0.0797 0.1611 0.2649 0.4721 0.2066 0.2441 0.2311 het 2840.08 214 3 121354583 . G A 2840.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.812;DP=214;Dels=0.00;FS=2.334;HRun=0;HaplotypeScore=3.3760;MQ=58.52;MQ0=0;MQRankSum=0.305;QD=13.27;ReadPosRankSum=-0.349;VQSLOD=5.1891;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,105:214:99:2870,0,2697 3 121414061 121414061 C T exonic GOLGB1 nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.G5069A:p.G1690D,GOLGB1:NM_001256486:exon13:c.G5309A:p.G1770D,GOLGB1:NM_001256487:exon13:c.G5192A:p.G1731D,GOLGB1:NM_004487:exon13:c.G5294A:p.G1765D 0.25 0.16 0.16 0.48 0.25 0.19 0.2393 0.1646 0.1347 0.4613 0.2021 0.2490 0.2555 0.2182 0.22 0.16 0.25 0.25 0.25 rs1127412 COSM4157167 1(thyroid) . . . . . . . . . . . 0.674 0.045 T 0.001 0.067 B 0.001 0.040 B 0.021 0.015 N 1 0.090 P -0.485 0.027 N 2.62 0.130 T 0.49 0.030 N 0.021 0.092 -0.934 0.436 T 0.000 0.000 T . . . -1.944 0.009 0.001 0.576 0.057 0.013 0.044 N c -1.598 -1.668 1.000 0.747 0.732 0.924 0 -9.92 0.004 -0.329 0.079 -1.806 0.007 0.000 0.063 0.004 0.083 1.586 0.025 Leucine zipper\x2c homeobox-associated ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000145088.4|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173230.11|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.2370 0.1663 0.1415 0.2882 0.4745 0.2064 0.2440 0.2640 0.2182 0.2318 0.1786 0.1655 0.2633 0.4826 0.2069 0.2441 0.2393 het 2038.50 190 3 121414061 . C T 2038.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.984;DP=190;DS;Dels=0.00;FS=2.895;HRun=0;HaplotypeScore=1.7206;MQ=59.14;MQ0=0;MQRankSum=0.552;QD=10.73;ReadPosRankSum=0.531;VQSLOD=6.6572;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,81:190:99:2068,0,3177 3 121415610 121415610 G A exonic GOLGB1 nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.C3520T:p.P1174S,GOLGB1:NM_001256486:exon13:c.C3760T:p.P1254S,GOLGB1:NM_001256487:exon13:c.C3643T:p.P1215S,GOLGB1:NM_004487:exon13:c.C3745T:p.P1249S 0.15 0.13 0.14 0.092 0.28 0.094 0.2172 0.1452 0.1124 0.0839 0.3177 0.2819 0.2192 0.1037 0.24 0.15 0.29 0.17 0.2 rs33988592 COSM4002414 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.135 0.282 T 0.006 0.126 B 0.005 0.104 B 0.331 0.141 N 1 0.090 P 1.655 0.426 L 2.56 0.225 T -0.39 0.197 N 0.183 0.223 -0.951 0.408 T 0.000 0.000 T . . . -0.896 0.036 0.026 0.339 0.020 0.101 0.155 N c -0.886 -0.900 0.765 0.236 0.707 0.730 0 1.91 0.247 -0.102 0.108 1.048 0.713 0.000 0.063 0.043 0.159 2.429 0.042 . ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000163406.6|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173230.11|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.2155 0.1468 0.1162 0.2033 0.0823 0.3180 0.2859 0.2189 0.1060 0.2266 0.1453 0.1384 0.1954 0.0815 0.3131 0.2740 0.2398 het 1052.14 84 3 121415610 . G A 1052.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.194;DP=84;Dels=0.00;FS=3.233;HRun=0;HaplotypeScore=2.4088;MQ=58.16;MQ0=0;MQRankSum=-1.318;QD=12.53;ReadPosRankSum=0.929;VQSLOD=4.3986;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,40:84:99:1082,0,1313 3 121415720 121415720 T C exonic GOLGB1 nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.A3410G:p.Y1137C,GOLGB1:NM_001256486:exon13:c.A3650G:p.Y1217C,GOLGB1:NM_001256487:exon13:c.A3533G:p.Y1178C,GOLGB1:NM_004487:exon13:c.A3635G:p.Y1212C 0.22 0.052 0.16 0.48 0.25 0.19 0.2311 0.0738 0.1317 0.4615 0.2021 0.2488 0.2511 0.2180 0.19 0.074 0.25 0.2 0.25 rs3732410 . . . . . . . . . . . . . 0.077 0.346 T 0.999 0.764 D 0.912 0.703 D 0.000 0.559 D 0.154 0.351 P 2.125 0.592 M 2.09 0.325 T -3.19 0.646 D 0.5 0.545 -0.897 0.483 T 0.000 0.000 T . . . 2.614 0.375 20.3 0.992 0.546 0.944 0.608 D c 0.338 0.366 0.999 0.382 0.707 0.730 0 4.59 0.561 1.949 0.397 1.061 0.807 1.000 0.715 0.121 0.196 10.852 0.458 . ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000145088.4|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173230.11|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.2304 0.0711 0.1382 0.2880 0.4747 0.2060 0.2438 0.2599 0.2182 0.2035 0.0806 0.1611 0.2616 0.4783 0.2068 0.2439 0.2327 het 4131.03 240 3 121415720 . T C 4131.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.039;DP=240;Dels=0.00;FS=0.471;HRun=0;HaplotypeScore=4.1402;MQ=59.23;MQ0=0;MQRankSum=1.804;QD=17.21;ReadPosRankSum=0.991;VQSLOD=5.1559;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,132:240:99:3559,0,2737 3 121416623 121416623 G C exonic GOLGB1 nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.C2507G:p.T836S,GOLGB1:NM_001256486:exon13:c.C2747G:p.T916S,GOLGB1:NM_001256487:exon13:c.C2630G:p.T877S,GOLGB1:NM_004487:exon13:c.C2732G:p.T911S 0.11 0.012 0.15 0.048 0.24 0.12 0.1842 0.0407 0.1097 0.0462 0.1949 0.2431 0.2031 0.1558 0.17 0.041 0.24 0.087 0.25 rs3732407 . . . . . . . . . . . . . 0.702 0.051 T 0.012 0.151 B 0.027 0.198 B 0.003 0.353 N 0.996 0.232 P 1.59 0.404 L 3.16 0.130 T 0.59 0.040 N 0.052 0.064 -0.945 0.419 T 0.000 0.000 T . . . -0.267 0.071 0.787 0.741 0.102 0.977 0.762 D c -0.302 -0.080 0.726 0.230 0.707 0.730 0 4.48 0.538 3.392 0.520 0.953 0.551 1.000 0.715 1.000 0.888 12.094 0.529 . ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000145088.4|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173230.11|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12|ENSG00000173226.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.1833 0.0383 0.1153 0.2778 0.0503 0.1982 0.2387 0.2288 0.1545 0.1672 0.0455 0.1391 0.2517 0.0607 0.2002 0.2391 0.2080 het 1384.64 114 3 121416623 . G C 1384.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.196;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7463;MQ=59.47;MQ0=0;MQRankSum=2.545;QD=12.15;ReadPosRankSum=1.167;VQSLOD=4.6402;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,57:114:99:1415,0,1555 3 121435621 121435621 T C exonic GOLGB1 synonymous SNV GOLGB1:NM_001256488:exon8:c.A1011G:p.Q337Q,GOLGB1:NM_001256486:exon9:c.A1251G:p.Q417Q,GOLGB1:NM_001256487:exon9:c.A1134G:p.Q378Q,GOLGB1:NM_004487:exon9:c.A1236G:p.Q412Q 0.65 0.57 0.48 0.85 0.75 0.58 0.6990 0.6056 0.3959 0.8564 0.7416 0.7598 0.7192 0.6243 0.71 0.61 0.76 0.67 0.72 rs9832267 COSM4157168 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6893 0.6091 0.4102 0.7335 0.8591 0.7426 0.7602 0.7264 0.6229 0.7046 0.6023 0.4773 0.6946 0.8501 0.7414 0.7516 0.7227 hom 4107.11 133 3 121435621 . T C 4107.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.654;DP=133;Dels=0.00;FS=3.078;HRun=1;HaplotypeScore=0.9867;MQ=59.27;MQ0=0;MQRankSum=-0.977;QD=30.88;ReadPosRankSum=0.716;VQSLOD=3.6237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,132:133:99:4082,313,0 3 121435624 121435624 C T exonic GOLGB1 synonymous SNV GOLGB1:NM_001256488:exon8:c.G1008A:p.E336E,GOLGB1:NM_001256486:exon9:c.G1248A:p.E416E,GOLGB1:NM_001256487:exon9:c.G1131A:p.E377E,GOLGB1:NM_004487:exon9:c.G1233A:p.E411E 0.65 0.57 0.48 0.85 0.75 0.58 0.6995 0.6107 0.3962 0.8564 0.7416 0.7598 0.7192 0.6240 0.71 0.61 0.76 0.67 0.72 rs9812411 COSM4157169 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6897 0.6138 0.4106 0.7334 0.8592 0.7427 0.7603 0.7264 0.6229 0.7063 0.6080 0.4773 0.6946 0.8503 0.7410 0.7519 0.7227 hom 4014.16 133 3 121435624 . C T 4014.16 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9867;MQ=59.27;MQ0=0;QD=30.18;VQSLOD=9.4530;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4013,319,0 3 121526204 121526204 G A exonic IQCB1 synonymous SNV IQCB1:NM_001023570:exon7:c.C574T:p.L192L,IQCB1:NM_001023571:exon7:c.C574T:p.L192L,IQCB1:NM_001319107:exon7:c.C574T:p.L192L 0.62 0.76 0.7 0.32 0.62 0.68 0.6275 0.7172 0.7531 0.3038 0.6643 0.6217 0.6062 0.6626 0.65 0.71 0.62 0.61 0.6 rs4543051 . . Benign|Benign not_specified|Renal_dysplasia_and_retinal_aplasia RCV000179799.2|RCV000372741.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|CN117960:ORPHA3156:236531005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6290 0.7152 0.7487 0.5632 0.2948 0.6679 0.6233 0.6013 0.6618 0.6364 0.7150 0.6959 0.5695 0.3130 0.6709 0.6162 0.6260 het 977.61 100 3 121526204 . G A 977.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.609;DP=100;Dels=0.01;FS=6.664;HRun=1;HaplotypeScore=5.9457;MQ=59.20;MQ0=0;MQRankSum=0.613;QD=9.68;ReadPosRankSum=-0.592;VQSLOD=3.8079;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,43:100:99:1008,0,1468 3 121825197 121825197 G A exonic CD86 nonsynonymous SNV CD86:NM_001206924:exon3:c.G217A:p.V73I,CD86:NM_001206925:exon3:c.G307A:p.V103I,CD86:NM_006889:exon4:c.G535A:p.V179I,CD86:NM_175862:exon4:c.G553A:p.V185I,CD86:NM_176892:exon4:c.G535A:p.V179I 0.87 0.66 0.94 1. 0.94 0.88 0.9138 0.6847 0.9567 0.9983 0.9566 0.9320 0.9185 0.8932 0.85 0.69 0.93 0.78 0.91 rs2681417 COSM4157177 1(thyroid) . . . . . . . . . . . 0.337 0.155 T 0.005 0.139 B 0.012 0.149 B 0.821 0.092 N 1 0.090 P 1.895 0.505 L 3.43 0.143 T -0.2 0.138 N 0.131 0.150 -1.015 0.253 T 0.000 0.000 T . . . -0.127 0.082 1.540 0.921 0.209 0.014 0.046 N c -0.939 -1.007 1.000 0.473 0.722 0.854 0 -1.9 0.072 -1.100 0.034 -0.189 0.103 0.000 0.063 0.030 0.147 6.166 0.195 Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9211 0.6772 0.9540 0.9457 0.9972 0.9595 0.9299 0.9328 0.8938 0.8658 0.6737 0.9391 0.9437 0.9969 0.9574 0.9317 0.9297 het 2043.79 172 3 121825197 . G A 2043.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.315;DP=172;Dels=0.00;FS=2.124;HRun=0;HaplotypeScore=1.4972;MQ=58.85;MQ0=0;MQRankSum=-0.440;QD=11.88;ReadPosRankSum=-1.705;VQSLOD=5.9439;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,84:172:99:2074,0,2488 3 122003045 122003045 G C exonic CASR synonymous SNV CASR:NM_000388:exon7:c.G2244C:p.P748P,CASR:NM_001178065:exon7:c.G2274C:p.P758P 0.97 0.9 1. 1. 1. 1. 0.9916 0.9081 0.9952 1 1 0.9998 0.9945 1 0.97 0.92 1. 0.96 0.99 rs2036400 . . Benign|Benign\x2cBenign Hypocalcemia\x2c_autosomal_dominant_1|Hypocalciuric_hypercalcemia\x2c_familial\x2c_type_1\x2cnot_specified RCV000234246.2|RCV000234246.2\x2cRCV000152932.2 MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen C0342345:601198|C1809471:145980:ORPHA93372:190868007\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9936 0.9074 0.9963 1 1 1.0000 0.9998 0.9969 0.9999 0.9740 0.9092 0.9952 1 1 1 0.9997 0.9949 hom 3615.41 117 3 122003045 . G C 3615.41 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.9996;MQ=59.41;MQ0=0;QD=30.90;VQSLOD=9.5492;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3615,283,0 3 122003769 122003769 A G exonic CASR nonsynonymous SNV CASR:NM_000388:exon7:c.A2968G:p.R990G,CASR:NM_001178065:exon7:c.A2998G:p.R1000G 0.21 0.03 0.2 0.52 0.074 0.26 0.1451 0.0448 0.2834 0.5316 0.1044 0.0751 0.1416 0.2101 0.063 0.043 0.073 0.14 0.049 rs1042636 COSM3767201 1(liver) Benign|Benign|Benign|Benign|Benign not_specified|Hypocalcemia|Neonatal_severe_hyperparathyroidism|Familial_hypocalciuric_hypercalcemia|Hypoparathyroidism_familial_isolated RCV000179296.2|RCV000276967.1|RCV000312165.1|RCV000369225.1|RCV000394192.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet CN169374|C0020598|C1832615:239200:ORPHA417|C0342637:ORPHA405:190868007|C1832648:146200:ORPHA2238 . . . . . . 0.002 0.721 D 0.319 0.312 B 0.051 0.240 B 0.000 0.559 D 0.015 0.403 P 1.735 0.450 L -2.56 0.896 D -0.79 0.219 N 0.434 0.489 -0.936 0.433 T 0.000 0.000 T . . . 2.338 0.342 18.42 0.992 0.550 0.872 0.464 D c -0.198 -0.068 0.000 0.058 0.554 0.283 0 3.26 0.363 2.667 0.462 0.189 0.248 0.999 0.424 0.340 0.244 11.867 0.516 . . . 0.1503 0.0413 0.2716 0.0409 0.5300 0.1055 0.0747 0.1158 0.2081 0.1041 0.0461 0.2339 0.0596 0.5093 0.1093 0.0851 0.1255 het 956 87 3 122003769 . A G 956 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.047;DP=87;Dels=0.00;FS=2.833;HRun=2;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=-0.737;QD=10.99;ReadPosRankSum=-1.245;VQSLOD=5.5304;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,36:87:99:986,0,1535 3 122003832 122003832 G C exonic CASR nonsynonymous SNV CASR:NM_000388:exon7:c.G3031C:p.E1011Q,CASR:NM_001178065:exon7:c.G3061C:p.E1021Q 0.92 0.8 0.98 0.98 0.96 0.95 0.9446 0.8263 0.9820 0.9835 0.9185 0.9521 0.9547 0.9522 0.92 0.84 0.96 0.91 0.97 rs1801726 . . Benign|Benign\x2cBenign Hypocalcemia\x2c_autosomal_dominant_1|Hypocalciuric_hypercalcemia\x2c_familial\x2c_type_1\x2cnot_specified RCV000229426.2|RCV000229426.2\x2cRCV000152934.3 MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen C0342345:601198|C1809471:145980:ORPHA93372:190868007\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.454 N 1.000 0.090 P . . . -2.35 0.881 D 0.26 0.044 N 0.035 0.044 -0.937 0.431 T 0.000 0.000 T . . . -0.624 0.049 0.109 0.550 0.051 0.012 0.042 N c -0.582 -0.417 0.029 0.139 0.487 0.133 0 5.79 0.917 1.199 0.316 0.067 0.174 1.000 0.715 0.342 0.244 12.554 0.554 . . . 0.9501 0.8235 0.9822 0.9853 0.9844 0.9181 0.9547 0.9608 0.9520 0.9148 0.8274 0.9785 0.9934 0.9809 0.9190 0.9516 0.9264 hom 2121.08 60 3 122003832 . G C 2121.08 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6604;MQ=58.45;MQ0=0;QD=35.35;VQSLOD=8.4117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2154,169,0 3 122133830 122133830 T G exonic WDR5B synonymous SNV WDR5B:NM_019069:exon1:c.A546C:p.I182I 0.2 0.11 0.21 0.22 0.26 0.22 0.2418 0.1298 0.1578 0.2114 0.3655 0.2684 0.2461 0.2298 0.21 0.12 0.26 0.21 0.25 rs3749213 COSM3759657 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2405 0.1236 0.1565 0.2227 0.2065 0.3595 0.2665 0.2546 0.2320 0.2347 0.1173 0.1838 0.2152 0.2086 0.3645 0.2756 0.2841 het 1408.36 88 3 122133830 . T G 1408.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.475;DP=88;Dels=0.00;FS=5.677;HRun=0;HaplotypeScore=1.9106;MQ=58.41;MQ0=0;MQRankSum=-0.716;QD=16.00;ReadPosRankSum=-0.469;VQSLOD=4.6706;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,53:88:99:1438,0,926 3 122186188 122186188 C T exonic KPNA1 nonsynonymous SNV KPNA1:NM_002264:exon3:c.G218A:p.S73N 0.99 0.98 1. 1. 1. 1. 0.9980 0.9775 0.9996 1 1 1.0000 1 1 0.99 0.98 1. 0.79 0.98 rs4678193 . . . . . . . . . . . . . 0.373 0.147 T 0.0 0.026 B 0.005 0.104 B 0.003 0.356 N 1.000 0.090 P 0.755 0.192 N 0.87 0.464 T -0.63 0.195 N 0.018 0.039 -0.935 0.434 T 0.000 0.000 T . . . 2.037 0.306 16.45 0.866 0.161 0.059 0.117 N c -0.547 -0.385 0.994 0.333 0.737 0.974 0 4.56 0.555 3.729 0.545 0.062 0.168 1.000 0.715 0.933 0.406 8.401 0.316 Armadillo-like helical|Armadillo-type fold|Importin-alpha\x2c importin-beta-binding domain . . 0.9985 0.9777 0.9996 1 1 1 1.0000 0.9996 1.0000 0.9933 0.9765 0.9988 1 1 1 1 0.9990 hom 2294.83 81 3 122186188 . C T 2294.83 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=28.33;VQSLOD=8.1509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2328,181,0 3 122259606 122259606 T C exonic PARP9 nonsynonymous SNV PARP9:NM_001146102:exon8:c.A1583G:p.Y528C,PARP9:NM_001146103:exon8:c.A1478G:p.Y493C,PARP9:NM_001146104:exon8:c.A1478G:p.Y493C,PARP9:NM_001146105:exon8:c.A1478G:p.Y493C,PARP9:NM_001146106:exon8:c.A1478G:p.Y493C,PARP9:NM_031458:exon8:c.A1583G:p.Y528C 0.51 0.42 0.41 0.65 0.56 0.49 0.5385 0.4606 0.3341 0.6569 0.5797 0.5705 0.5552 0.5221 0.53 0.47 0.57 0.46 0.57 rs9851180 COSM4157180 1(thyroid) . . . . . . . . . . . 0.195 0.214 T 0.0 0.026 B 0.0 0.013 B 0.011 0.013 N 1 0.090 P 0.06 0.082 N 3.17 0.166 T 0.83 0.056 N 0.033 0.068 -0.914 0.464 T 0.000 0.000 T . . . -1.376 0.020 0.004 0.224 0.009 0.006 0.027 N c -1.831 -1.867 0.986 0.310 0.732 0.924 0 -8.73 0.007 -1.316 0.028 -0.985 0.023 0.000 0.063 0.001 0.043 7.786 0.281 . ENSG00000114023.11|ENSG00000114023.11|ENSG00000114023.11|ENSG00000160124.5 Adipose_Subcutaneous|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis 0.5314 0.4568 0.3411 0.6105 0.6552 0.5760 0.5660 0.5442 0.5214 0.5319 0.4548 0.3911 0.5960 0.6733 0.5775 0.5575 0.5307 hom 6878.18 214 3 122259606 . T C 6878.18 Mask AC=2;AF=1.00;AN=2;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9916;MQ=57.65;MQ0=0;QD=32.14;VQSLOD=4.1745;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6878,533,0 3 122274757 122274757 G C exonic PARP9 synonymous SNV PARP9:NM_001146102:exon4:c.C366G:p.V122V,PARP9:NM_001146103:exon4:c.C261G:p.V87V,PARP9:NM_001146104:exon4:c.C261G:p.V87V,PARP9:NM_001146105:exon4:c.C261G:p.V87V,PARP9:NM_001146106:exon4:c.C261G:p.V87V,PARP9:NM_031458:exon4:c.C366G:p.V122V 0.19 0.065 0.2 0.23 0.26 0.22 0.2410 0.0995 0.1559 0.2274 0.3670 0.2693 0.2461 0.2316 0.21 0.097 0.26 0.18 0.24 rs73192127 COSM3759658 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2408 0.0945 0.1553 0.2320 0.2235 0.3608 0.2673 0.2560 0.2341 0.2283 0.0906 0.1799 0.2252 0.2288 0.3643 0.2763 0.2811 het 598 54 3 122274757 . G C 598 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.507;DP=54;Dels=0.00;FS=2.675;HRun=0;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;MQRankSum=-0.912;QD=11.07;ReadPosRankSum=-0.244;VQSLOD=6.0844;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:628,0,898 3 122288210 122288210 G A exonic DTX3L nonsynonymous SNV DTX3L:NM_138287:exon3:c.G1274A:p.R425K 0.55 0.46 0.59 0.66 0.56 0.49 0.5667 0.4894 0.5343 0.6667 0.5864 0.5799 0.5643 0.5242 0.54 0.49 0.57 0.53 0.57 rs2332285 COSM5983130 1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.436 N 1 0.588 P -1.525 0.005 N 1.85 0.245 T 1.73 0.006 N 0.021 0.005 -0.933 0.438 T 0.000 0.000 T . . . 0.401 0.133 6.620 0.653 0.075 0.005 0.022 N c -1.192 -0.931 1.000 0.747 0.563 0.310 0 4.47 0.536 1.189 0.315 0.244 0.267 0.140 0.233 0.289 0.235 8.377 0.314 . ENSG00000114023.11|ENSG00000114023.11 Adipose_Subcutaneous|Skin_Sun_Exposed_Lower_leg 0.5647 0.4818 0.5370 0.5884 0.6665 0.5819 0.5741 0.5745 0.5231 0.5452 0.4772 0.5656 0.5695 0.6907 0.5791 0.5593 0.5493 hom 5844.84 182 3 122288210 . G A 5844.84 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.428;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2330;MQ=59.46;MQ0=0;MQRankSum=1.675;QD=32.11;ReadPosRankSum=1.428;VQSLOD=7.1510;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,181:182:99:5811,453,0 3 122345870 122345870 C T exonic PARP15 synonymous SNV PARP15:NM_152615:exon5:c.C726T:p.S242S,PARP15:NM_001113523:exon9:c.C1428T:p.S476S 0.083 0.0091 0.092 0.0089 0.22 0.12 0.1494 0.0333 0.0824 0.0062 0.2483 0.1945 0.1652 0.1197 0.14 0.037 0.2 0.065 0.25 rs17208928 COSM3759660;COSM3759659 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1508 0.0311 0.0850 0.2030 0.0060 0.2378 0.1945 0.1746 0.1196 0.1543 0.0359 0.1122 0.2384 0.0056 0.2390 0.2178 0.1914 het 889.81 56 3 122345870 . C T 889.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.385;DP=56;Dels=0.00;FS=1.087;HRun=0;HaplotypeScore=2.8676;MQ=58.46;MQ0=0;MQRankSum=-0.128;QD=15.89;ReadPosRankSum=-0.932;VQSLOD=5.5429;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,36:56:99:920,0,536 3 122354037 122354037 A G exonic PARP15 synonymous SNV PARP15:NM_001308321:exon6:c.A834G:p.K278K,PARP15:NM_152615:exon7:c.A1041G:p.K347K,PARP15:NM_001308320:exon8:c.A1158G:p.K386K,PARP15:NM_001113523:exon11:c.A1743G:p.K581K 0.36 0.26 0.39 0.5 0.38 0.31 0.3685 0.2629 0.4399 0.4735 0.3857 0.3694 0.3714 0.3201 0.33 0.26 0.37 0.33 0.48 rs1106346 COSM3759661;COSM3759662 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3731 0.2602 0.4349 0.3567 0.4710 0.3741 0.3704 0.3849 0.3189 0.3592 0.2574 0.4294 0.4007 0.4473 0.3755 0.3988 0.3852 hom 2357.53 77 3 122354037 . A G 2357.53 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8857;MQ=59.38;MQ0=0;QD=30.62;VQSLOD=9.0387;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2391,187,0 3 122354716 122354716 C T exonic PARP15 synonymous SNV PARP15:NM_001308321:exon7:c.C897T:p.D299D,PARP15:NM_152615:exon8:c.C1104T:p.D368D,PARP15:NM_001308320:exon9:c.C1221T:p.D407D,PARP15:NM_001113523:exon12:c.C1806T:p.D602D 0.11 0.057 0.13 0.0099 0.25 0.12 0.1790 0.0677 0.1214 0.0064 0.2865 0.2299 0.1898 0.1308 0.18 0.071 0.23 0.098 0.3 rs61754895 COSM3759663;COSM3759664 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1806 0.0644 0.1241 0.2081 0.0062 0.2739 0.2316 0.2002 0.1326 0.1922 0.0683 0.1575 0.2467 0.0056 0.2812 0.2618 0.2352 het 1624.84 152 3 122354716 . C T 1624.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.534;DP=152;Dels=0.00;FS=2.961;HRun=0;HaplotypeScore=2.8994;MQ=59.14;MQ0=0;MQRankSum=-0.066;QD=10.69;ReadPosRankSum=-0.674;VQSLOD=5.9481;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,64:152:99:1655,0,2211 3 122354792 122354792 G A exonic PARP15 nonsynonymous SNV PARP15:NM_001308321:exon7:c.G973A:p.G325R,PARP15:NM_152615:exon8:c.G1180A:p.G394R,PARP15:NM_001308320:exon9:c.G1297A:p.G433R,PARP15:NM_001113523:exon12:c.G1882A:p.G628R 0.22 0.098 0.25 0.49 0.13 0.19 0.1805 0.1131 0.3133 0.4671 0.0987 0.1378 0.1729 0.1858 0.13 0.12 0.13 0.17 0.2 rs12489170 . . . . . . . . . . . . . 0.01 0.564 D 1.0 0.899 D 1.0 0.971 D . . . 0.000 0.588 P 3.2 0.893 M 2.34 0.164 T -7.08 0.953 D 0.347 0.501 -0.903 0.477 T 0.000 0.000 T . . . 5.216 0.704 25.6 0.998 0.891 0.996 0.979 D c 0.610 0.389 1.000 0.747 0.707 0.730 0 3.99 0.454 9.713 0.980 1.048 0.713 1.000 0.715 0.004 0.083 14.800 0.694 Macro domain;Poly(ADP-ribose) polymerase\x2c catalytic domain . . 0.1857 0.1127 0.3059 0.1480 0.4647 0.0997 0.1379 0.1791 0.1834 0.1438 0.1129 0.2637 0.15 0.4428 0.0943 0.1342 0.1446 het 1272.51 130 3 122354792 . G A 1272.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.914;DP=130;Dels=0.00;FS=9.764;HRun=0;HaplotypeScore=1.7287;MQ=59.24;MQ0=0;MQRankSum=-2.080;QD=9.79;ReadPosRankSum=-1.227;VQSLOD=3.1833;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,53:130:99:1303,0,2087 3 122437321 122437321 T C exonic PARP14 synonymous SNV PARP14:NM_017554:exon14:c.T4323C:p.Y1441Y 0.92 0.86 0.94 0.98 0.88 0.96 0.9016 0.8752 0.9394 0.9846 0.8759 0.8815 0.9044 0.9392 0.89 0.89 0.88 0.87 . rs7645033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9026 0.8714 0.9378 0.8852 0.9823 0.8772 0.8807 0.8944 0.9395 0.8775 0.8649 0.9153 0.8709 0.9834 0.8677 0.8734 0.8827 hom 3783.35 124 3 122437321 . T C 3783.35 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8308;MQ=58.61;MQ0=0;QD=30.51;VQSLOD=9.0533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3783,310,0 3 122630346 122630346 T C exonic SEMA5B nonsynonymous SNV SEMA5B:NM_001256348:exon20:c.A2801G:p.D934G,SEMA5B:NM_001031702:exon21:c.A3083G:p.D1028G,SEMA5B:NM_001256346:exon21:c.A3083G:p.D1028G,SEMA5B:NM_001256347:exon21:c.A3245G:p.D1082G 0.61 0.56 0.63 0.36 0.81 0.71 0.7347 0.5876 0.5434 0.3665 0.7396 0.8278 0.7732 0.7392 0.75 0.58 0.83 0.6 0.7 rs2303983 COSM5461627;COSM5461626;COSM5461628 1(breast);1(large_intestine) . . . . . . . . . . . 0.423 0.103 T 0.0 0.026 B 0.001 0.040 B 0.667 0.060 N 1.000 0.182 P 0.69 0.170 N 1.41 0.346 T -0.31 0.162 N 0.015 0.349 -1.040 0.172 T 0.000 0.000 T . . . -0.080 0.086 1.885 0.296 0.016 0.143 0.181 N c -0.827 -0.817 0.000 0.065 0.706 0.609 0 3.19 0.356 1.913 0.394 -0.420 0.060 0.963 0.335 0.940 0.414 5.939 0.183 . ENSG00000082684.10|ENSG00000273033.1|ENSG00000082684.10 Brain_Cortex|Nerve_Tibial|Testis 0.7096 0.5756 0.5155 0.7808 0.3295 0.7284 0.8292 0.7462 0.7308 0.7031 0.5815 0.5288 0.7933 0.3331 0.7363 0.8124 0.7256 het 136.58 10 3 122630346 . T C 136.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=-1.001;QD=13.66;ReadPosRankSum=-0.573;VQSLOD=6.2367;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:59.82:167,0,60 3 122642590 122642590 G A exonic SEMA5B synonymous SNV SEMA5B:NM_001256348:exon9:c.C972T:p.I324I,SEMA5B:NM_001031702:exon10:c.C1146T:p.I382I,SEMA5B:NM_001256346:exon10:c.C1146T:p.I382I,SEMA5B:NM_001256347:exon10:c.C1308T:p.I436I 0.42 0.19 0.44 0.3 0.65 0.59 0.5612 0.2558 0.3712 0.2798 0.6299 0.6612 0.5991 0.6004 0.53 0.27 0.67 0.38 0.61 rs2276778 COSM1752863;COSM1752862;COSM1752864 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5590 0.2456 0.3815 0.6173 0.2773 0.6318 0.6667 0.5817 0.6004 0.5147 0.2569 0.3986 0.6490 0.2739 0.6380 0.6614 0.5818 het 1862.39 183 3 122642590 . G A 1862.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.155;DP=183;Dels=0.00;FS=1.172;HRun=1;HaplotypeScore=5.8230;MQ=59.26;MQ0=0;MQRankSum=-0.465;QD=10.18;ReadPosRankSum=-2.246;VQSLOD=4.1245;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,77:183:99:1892,0,2575 3 122680141 122680141 A G exonic SEMA5B synonymous SNV SEMA5B:NM_001256347:exon2:c.T132C:p.G44G 0.26 0.22 0.27 0.35 0.24 0.21 0.2403 0.2387 0.2845 0.3843 0.2913 0.2185 0.2381 0.2015 0.22 0.24 0.22 0.22 0.2 rs13094003 COSM328560 11(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2439 0.2424 0.2846 0.2778 0.3900 0.2809 0.2111 0.2425 0.2000 0.2438 0.2397 0.2864 0.2715 0.3949 0.2874 0.2168 0.2444 hom 1751.11 56 3 122680141 . A G 1751.11 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=31.27;VQSLOD=9.1814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1784,135,0 3 123303821 123303821 G C exonic HACD2 synonymous SNV HACD2:NM_001329783:exon1:c.C54G:p.G18G,HACD2:NM_198402:exon1:c.C54G:p.G18G 0.41 0.48 0.38 0.63 0.18 0.33 0.3267 0.4557 0.4153 0.6311 0.1875 0.2630 0.3125 0.3326 0.16 0.26 0.12 0.076 . rs1271004 COSM1566307 1(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2700 0.3938 0.4360 0.2435 0.5718 0.1211 0.1661 0.2508 0.3212 0.2631 0.4356 0.4376 0.2833 0.5872 0.1108 0.1593 0.1783 het 77.63 11 3 123303821 . G C 77.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.663;QD=7.06;ReadPosRankSum=0.278;VQSLOD=9.0042;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,4:11:99:108,0,231 3 123357037 123357037 A G exonic MYLK synonymous SNV MYLK:NM_001321309:exon28:c.T4314C:p.N1438N,MYLK:NM_053026:exon28:c.T4635C:p.N1545N,MYLK:NM_053028:exon28:c.T4635C:p.N1545N,MYLK:NM_053025:exon29:c.T4842C:p.N1614N,MYLK:NM_053027:exon29:c.T4842C:p.N1614N 0.37 0.47 0.33 0.64 0.079 0.3 0.2182 0.4261 0.4443 0.6118 0.0795 0.0933 0.1608 0.2873 0.2 0.41 0.09 0.39 0.098 rs820463 COSM5008425 1(breast);2(large_intestine) Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000214883.3|RCV000330337.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2178 0.4228 0.4188 0.1336 0.6061 0.0811 0.0877 0.1808 0.2856 0.2104 0.4170 0.3840 0.1258 0.5866 0.0695 0.0814 0.1186 het 904.40 77 3 123357037 . A G 904.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.645;DP=77;Dels=0.00;FS=3.117;HRun=0;HaplotypeScore=0.0000;MQ=58.03;MQ0=0;MQRankSum=0.820;QD=11.75;ReadPosRankSum=0.392;VQSLOD=5.3055;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,38:77:99:934,0,1003 3 123411589 123411589 G A exonic MYLK synonymous SNV MYLK:NM_001321309:exon18:c.C3030T:p.T1010T,MYLK:NM_053026:exon18:c.C3351T:p.T1117T,MYLK:NM_053028:exon18:c.C3351T:p.T1117T,MYLK:NM_053025:exon19:c.C3558T:p.T1186T,MYLK:NM_053027:exon19:c.C3558T:p.T1186T 0.33 0.064 0.49 0.069 0.76 0.42 0.5783 0.1597 0.4325 0.0448 0.6327 0.7572 0.625 0.4764 0.56 0.17 0.76 0.32 0.61 rs40305 COSM4407134 1(breast);1(liver) Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000218051.3|RCV000324555.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5812 0.1541 0.4473 0.7662 0.0434 0.6368 0.7607 0.6428 0.4801 0.5243 0.1729 0.5012 0.7417 0.0490 0.6363 0.7442 0.6232 het 1048.19 114 3 123411589 . G A 1048.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.553;DP=114;Dels=0.00;FS=0.737;HRun=0;HaplotypeScore=1.7329;MQ=59.36;MQ0=0;MQRankSum=-1.565;QD=9.19;ReadPosRankSum=-0.626;VQSLOD=5.7042;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,41:114:99:1078,0,1995 3 123418913 123418913 G A exonic MYLK synonymous SNV MYLK:NM_001321309:exon17:c.C2874T:p.N958N,MYLK:NM_053026:exon17:c.C3195T:p.N1065N,MYLK:NM_053028:exon17:c.C3195T:p.N1065N,MYLK:NM_053025:exon18:c.C3402T:p.N1134N,MYLK:NM_053027:exon18:c.C3402T:p.N1134N 0.95 0.82 0.98 1. 1. 1. 0.9824 0.8299 0.9883 0.9998 1 0.9973 0.9835 0.9982 0.94 0.83 1. 0.91 0.98 rs865358 . . Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000175377.4|RCV000328093.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9851 0.8261 0.9868 0.9856 0.9999 1 0.9976 0.9838 0.9982 0.9486 0.8237 0.9881 0.9867 1 1 0.9981 0.9898 hom 7725.58 248 3 123418913 . G A 7725.58 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2464;MQ=59.38;MQ0=0;QD=31.15;VQSLOD=5.8839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:248:99:7695,608,0 3 123451773 123451773 G C exonic MYLK nonsynonymous SNV MYLK:NM_001321309:exon10:c.C958G:p.L320V,MYLK:NM_053025:exon11:c.C1486G:p.L496V,MYLK:NM_053027:exon11:c.C1486G:p.L496V 1. 1. 1. 1. 1. 1. 0.9996 0.9956 1 1 1 1 1 1 1. 1. 1. 1. 1. rs9833275 . . Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000222054.3|RCV000358452.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.588 P -0.5 0.026 N -0.11 0.645 T 0.93 0.016 N 0.016 0.009 -0.958 0.396 T 0.000 0.000 T . . . 3.382 0.465 23.0 0.831 0.141 0.044 0.099 N c -0.629 -0.354 1.000 0.747 0.615 0.372 0 5.29 0.743 2.432 0.442 0.057 0.164 0.977 0.347 0.972 0.466 15.172 0.724 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9997 0.9955 0.9999 1 1 1 1 1 1 0.9987 0.9953 1 1 1 1 1 1 hom 3330.99 106 3 123451773 . G C 3330.99 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=31.42;VQSLOD=8.9098;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3331,259,0 3 123452838 123452838 G A exonic MYLK synonymous SNV MYLK:NM_001321309:exon9:c.C477T:p.T159T,MYLK:NM_053025:exon10:c.C1005T:p.T335T,MYLK:NM_053026:exon10:c.C1005T:p.T335T,MYLK:NM_053027:exon10:c.C1005T:p.T335T,MYLK:NM_053028:exon10:c.C1005T:p.T335T 0.63 0.36 0.73 0.94 0.65 0.6 0.6566 0.4006 0.7059 0.9416 0.6397 0.6637 0.6410 0.6107 0.57 0.39 0.67 0.58 0.65 rs4678047 . . Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000215397.3|RCV000269693.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6623 0.3925 0.7061 0.6372 0.9427 0.6386 0.6643 0.6647 0.6089 0.6001 0.4017 0.7196 0.6667 0.9377 0.6432 0.6578 0.6445 het 2004.67 141 3 123452838 . G A 2004.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.654;DP=141;Dels=0.00;FS=1.480;HRun=0;HaplotypeScore=3.7179;MQ=59.84;MQ0=0;MQRankSum=0.609;QD=14.22;ReadPosRankSum=-0.625;VQSLOD=6.0308;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,71:141:99:2035,0,1895 3 123457893 123457893 G A exonic MYLK nonsynonymous SNV MYLK:NM_053025:exon7:c.C439T:p.P147S,MYLK:NM_053026:exon7:c.C439T:p.P147S,MYLK:NM_053027:exon7:c.C439T:p.P147S,MYLK:NM_053028:exon7:c.C439T:p.P147S 0.86 0.6 0.95 0.94 0.99 0.91 0.9445 0.6422 0.9494 0.9383 0.9670 0.9927 0.9533 0.9274 0.87 0.64 0.99 0.85 0.98 rs9840993 . . Benign|Likely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000179991.4|RCV000380436.1 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . 0.287 0.173 T 0.095 0.306 B 0.111 0.300 B . . . 0.991 0.241 P 0.895 0.225 L -0.39 0.692 T -1.32 0.336 N 0.015 0.004 -0.986 0.336 T 0.000 0.000 T . . . 0.640 0.155 8.430 0.866 0.161 0.761 0.370 D c -0.895 -0.848 1.000 0.428 0.615 0.372 0 1.3 0.207 3.162 0.502 -0.033 0.126 1.000 0.715 0.954 0.431 11.430 0.491 . . . 0.9492 0.6318 0.9509 0.9664 0.9371 0.9688 0.9940 0.9649 0.9260 0.8854 0.6412 0.9606 0.9669 0.9234 0.9668 0.9933 0.9592 hom 2561.88 81 3 123457893 . G A 2561.88 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.77;MQ0=0;QD=31.63;VQSLOD=9.4502;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2595,205,0 3 123634046 123634046 G A exonic CCDC14 synonymous SNV CCDC14:NM_001308317:exon12:c.C1842T:p.S614S,CCDC14:NM_022757:exon12:c.C2319T:p.S773S 0.84 0.95 0.87 0.89 0.71 0.76 0.7938 0.9316 0.8866 0.9139 0.7157 0.7518 0.7770 0.7805 0.81 0.92 0.75 0.9 . rs2700373 COSM3759678;COSM3759677;COSM3759676 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7939 0.9354 0.8807 0.7770 0.9149 0.7150 0.7512 0.7805 0.7810 0.8119 0.9313 0.8652 0.8079 0.9037 0.7049 0.7576 0.7643 hom 2309.31 68 3 123634046 . G A 2309.31 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.32;MQ0=0;QD=33.96;VQSLOD=9.7292;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2342,193,0 3 123665902 123665902 T G exonic CCDC14 nonsynonymous SNV CCDC14:NM_001308317:exon7:c.A493C:p.T165P,CCDC14:NM_022757:exon7:c.A970C:p.T324P 0.3 0.1 0.4 0.1 0.57 0.42 0.4887 0.1814 0.3244 0.1096 0.5345 0.6120 0.4978 0.4786 0.48 0.19 0.62 0.24 . rs17310144 COSM5420211;COSM5420210;COSM5420209 1(pancreas) . . . . . . . . . . . 0.262 0.315 T 0.899 0.475 P 0.367 0.416 B 0.278 0.150 N 1 0.090 P 1.39 0.351 L 0.9 0.453 T -2.24 0.558 N 0.154 0.267 -0.945 0.418 T 0.000 0.000 T . . . 0.183 0.111 4.500 0.973 0.328 0.182 0.200 N c -0.685 -0.836 0.853 0.250 0.707 0.730 0 -2.21 0.065 -0.049 0.118 0.082 0.190 0.000 0.063 0.014 0.122 10.212 0.421 . ENSG00000175455.10 Colon_Transverse 0.4894 0.1761 0.3418 0.5789 0.1118 0.5288 0.6202 0.5148 0.4814 0.4546 0.1896 0.4017 0.5906 0.1108 0.5186 0.6269 0.5265 hom 7259.52 239 3 123665902 . T G 7259.52 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.767;DP=239;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8188;MQ=58.89;MQ0=0;MQRankSum=-1.323;QD=30.37;ReadPosRankSum=0.884;VQSLOD=7.2198;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,238:239:99:7220,518,0 3 123988039 123988039 T C exonic KALRN synonymous SNV KALRN:NM_001024660:exon5:c.T900C:p.H300H,KALRN:NM_001322988:exon5:c.T900C:p.H300H,KALRN:NM_001322989:exon5:c.T900C:p.H300H,KALRN:NM_001322990:exon5:c.T900C:p.H300H,KALRN:NM_001322991:exon5:c.T900C:p.H300H,KALRN:NM_001322992:exon5:c.T900C:p.H300H,KALRN:NM_003947:exon5:c.T900C:p.H300H 0.62 0.65 0.66 0.53 0.62 0.65 0.6193 0.6552 0.6929 0.5320 0.6026 0.6112 0.5869 0.6322 0.63 0.65 0.61 0.6 0.5 rs2272486 COSM445466;COSM1484529 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6200 0.65 0.6869 0.5754 0.5391 0.6106 0.6111 0.6196 0.6302 0.6211 0.6496 0.6683 0.5633 0.5446 0.6065 0.6156 0.6063 het 1938.49 136 3 123988039 . T C 1938.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.050;DP=136;Dels=0.00;FS=3.194;HRun=0;HaplotypeScore=3.5479;MQ=59.69;MQ0=0;MQRankSum=-0.211;QD=14.25;ReadPosRankSum=1.049;VQSLOD=5.5405;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,72:136:99:1968,0,1588 3 124044949 124044949 C T exonic KALRN synonymous SNV KALRN:NM_001024660:exon7:c.C1209T:p.F403F,KALRN:NM_001322988:exon7:c.C1209T:p.F403F,KALRN:NM_001322989:exon7:c.C1209T:p.F403F,KALRN:NM_001322990:exon7:c.C1209T:p.F403F,KALRN:NM_001322991:exon7:c.C1209T:p.F403F,KALRN:NM_001322992:exon7:c.C1209T:p.F403F,KALRN:NM_003947:exon7:c.C1209T:p.F403F 0.75 0.5 0.81 0.78 0.89 0.88 0.8567 0.5763 0.8444 0.7698 0.9046 0.9011 0.8502 0.8893 0.79 0.59 0.9 0.73 0.89 rs2289778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8601 0.5717 0.8396 0.8376 0.7755 0.9057 0.9050 0.8649 0.8837 0.8028 0.5831 0.8473 0.8212 0.7821 0.8998 0.9033 0.8605 hom 5948.28 189 3 124044949 . C T 5948.28 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.3990;MQ=59.45;MQ0=0;QD=31.47;VQSLOD=9.6816;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:5948,466,0 3 124646594 124646594 A G exonic MUC13 nonsynonymous SNV MUC13:NM_033049:exon2:c.T296C:p.I99T 0.39 0.43 0.45 0.22 0.43 0.45 0.4221 0.4360 0.4708 0.2382 0.4741 0.4183 0.4181 0.4706 0.43 0.45 0.42 0.43 0.43 rs4679392 COSM149459 1(stomach);2(haematopoietic_and_lymphoid_tissue);3(prostate);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.805 0.016 N . . . . . . 0.005 0.003 -0.935 0.434 T 0.000 0.000 T . . . -0.784 0.041 0.047 0.325 0.019 0.000 0.001 N c -1.341 -1.325 0.954 0.281 0.206 0.033 2 1.89 0.246 0.099 0.149 -0.095 0.117 0.000 0.063 0.004 0.083 4.160 0.097 . ENSG00000082781.7|ENSG00000082781.7|ENSG00000082781.7|ENSG00000082781.7|ENSG00000082781.7 Artery_Aorta|Artery_Tibial|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis 0.4272 0.4384 0.4764 0.3882 0.2382 0.4765 0.4227 0.4075 0.4703 0.4238 0.4431 0.4797 0.4167 0.2522 0.4665 0.4170 0.4418 het 4425.41 247 3 124646594 . A G 4425.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.608;DP=247;DS;Dels=0.00;FS=5.303;HRun=0;HaplotypeScore=8.6667;MQ=57.04;MQ0=0;MQRankSum=0.172;QD=17.92;ReadPosRankSum=-0.305;VQSLOD=2.2211;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,129:247:99:3762,0,2998 3 124646705 124646705 - AAG exonic MUC13 nonframeshift insertion MUC13:NM_033049:exon2:c.184_185insCTT:p.P61_F62insS 0.99 0.95 1. 1. 1. 1. 0.9963 0.9610 0.9978 1 0.9997 0.9999 0.9956 0.9998 0.99 0.96 1. . . rs72587472 COSM5713096 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9616 0.9980 0.9999 1 0.9998 0.9998 0.9985 0.9995 0.9905 0.9675 0.9976 1 0.9994 1 0.9997 0.9959 hom 15508.91 249 3 124646705 . A AAAG 15508.91 Mask AC=2;AF=1.00;AN=2;DP=249;DS;FS=0.000;HRun=0;HaplotypeScore=677.5734;MQ=54.64;MQ0=0;QD=62.04;set=variant2 GT:AD:DP:GQ:PL 1/1:24,218:249:99:15509,710,0 3 124692689 124692689 C T exonic HEG1 synonymous SNV HEG1:NM_020733:exon16:c.G3882A:p.P1294P 0.7 0.88 0.6 0.78 0.6 0.57 0.6209 0.8394 0.5468 0.7889 0.5864 0.5954 0.5958 0.5737 0.67 0.83 0.6 0.76 . rs2270778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6175 0.8420 0.5701 0.6063 0.7955 0.5830 0.5935 0.6093 0.5750 0.6670 0.8367 0.5742 0.6225 0.8146 0.5880 0.5811 0.6008 hom 2285.03 76 3 124692689 . C T 2285.03 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=58.62;MQ0=0;QD=30.07;VQSLOD=8.7739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2318,181,0 3 124728626 124728626 A G exonic HEG1 nonsynonymous SNV HEG1:NM_020733:exon8:c.T3116C:p.M1039T 0.63 0.51 0.72 0.6 0.65 0.73 0.6505 0.5371 0.7173 0.5587 0.6197 0.6511 0.6585 0.7281 0.63 0.56 0.66 0.73 . rs6438869 COSM3759687 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.159 0.177 N 1 0.090 P -1.315 0.007 N -2.83 0.913 D 1.74 0.006 N 0.034 0.014 -0.881 0.497 T 0.000 0.000 T . . . -3.066 0.001 0.001 0.182 0.006 0.003 0.016 N c -2.188 -2.216 1.000 0.747 0.707 0.730 0 -7.74 0.011 -0.591 0.058 -0.950 0.024 0.000 0.063 0.243 0.226 19.552 0.953 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain . . 0.6538 0.5398 0.7043 0.7205 0.5561 0.6299 0.6485 0.6728 0.7220 0.6136 0.5531 0.7033 0.6689 0.5328 0.6121 0.6504 0.6334 hom 1162.50 42 3 124728626 . A G 1162.50 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=27.68;VQSLOD=8.3546;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:93.29:1196,93,0 3 124731485 124731485 C G exonic HEG1 nonsynonymous SNV HEG1:NM_020733:exon6:c.G2938C:p.V980L 0.75 0.66 0.74 0.93 0.63 0.81 0.6847 0.6567 0.7935 0.9192 0.7057 0.6113 0.7075 0.7906 0.62 0.67 0.6 0.78 . rs10804567 COSM3759688 1(oesophagus);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.429 0.047 N 1 0.090 P -1.975 0.002 N -2.24 0.872 D 0.81 0.018 N 0.041 0.021 -0.957 0.397 T 0.000 0.000 T . . . -1.599 0.015 0.002 0.206 0.007 0.007 0.029 N c -2.216 -2.209 1.000 0.747 0.707 0.730 0 -9.01 0.006 -1.864 0.017 -0.700 0.038 0.000 0.063 0.000 0.016 4.606 0.117 . . . 0.6903 0.6610 0.7803 0.6558 0.9251 0.7134 0.6043 0.6650 0.7851 0.6660 0.6578 0.7572 0.6258 0.9282 0.7109 0.6271 0.6745 hom 1627.65 48 3 124731485 . C G 1627.65 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.91;VQSLOD=13.4917;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1661,132,0 3 124732618 124732618 A G exonic HEG1 nonsynonymous SNV HEG1:NM_020733:exon6:c.T1805C:p.F602S 0.44 0.23 0.44 0.47 0.54 0.61 0.4975 0.2688 0.3851 0.4296 0.5849 0.5245 0.5504 0.5999 0.42 0.26 0.5 0.46 . rs6790837 COSM3759690 2(breast);1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.367 0.116 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.204 P -1.845 0.003 N -2.16 0.866 D 2.13 0.004 N 0.066 0.052 -0.968 0.376 T 0.000 0.000 T . . . 0.706 0.161 8.864 0.167 0.005 0.067 0.126 N c -0.934 -0.673 1.000 0.420 0.707 0.730 0 3.35 0.373 3.949 0.561 0.129 0.215 1.000 0.715 0.746 0.321 9.274 0.367 . ENSG00000173706.8 Whole_Blood 0.4985 0.2697 0.3979 0.6199 0.4232 0.5839 0.5152 0.5252 0.5976 0.4530 0.2706 0.4200 0.5993 0.4220 0.5882 0.5259 0.5153 hom 2410.58 77 3 124732618 . A G 2410.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.552;DP=77;Dels=0.00;FS=3.493;HRun=0;HaplotypeScore=1.9924;MQ=59.16;MQ0=0;MQRankSum=1.687;QD=31.31;ReadPosRankSum=1.372;VQSLOD=4.4596;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,76:77:99:2444,165,0 3 124738107 124738107 C T exonic HEG1 synonymous SNV HEG1:NM_020733:exon5:c.G1587A:p.S529S 0.49 0.4 0.47 0.48 0.54 0.6 0.5155 0.3998 0.4126 0.4366 0.6025 0.5285 0.5597 0.6078 0.46 0.38 0.5 0.54 . rs59232004 COSM3759691 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5137 0.4035 0.4242 0.6046 0.4280 0.6040 0.5180 0.5370 0.6003 0.4957 0.4062 0.4594 0.5927 0.4264 0.6006 0.5292 0.5204 hom 3202.18 93 3 124738107 . C T 3202.18 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=34.43;VQSLOD=9.1347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3235,256,0 3 124739892 124739892 G A exonic HEG1 synonymous SNV HEG1:NM_020733:exon4:c.C996T:p.A332A 0.51 0.46 0.48 0.48 0.54 0.6 0.5532 0.4800 0.4710 0.4792 0.6223 0.5609 0.5780 0.6215 0.48 0.43 0.51 0.53 . rs6438874 COSM3759692 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5181 0.4539 0.4282 0.6058 0.4296 0.6035 0.5190 0.5371 0.6001 0.5087 0.4522 0.4627 0.5927 0.4267 0.6005 0.5286 0.5267 hom 587.89 18 3 124739892 . G A 587.89 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=32.66;VQSLOD=9.8258;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:621,48,0 3 124746049 124746049 A G exonic HEG1 nonsynonymous SNV HEG1:NM_020733:exon3:c.T913C:p.S305P 0.49 0.37 0.48 0.48 0.55 0.61 0.5389 0.4045 0.4543 0.4696 0.6171 0.5497 0.5965 0.6462 0.46 0.36 0.5 0.52 . rs2981546 COSM5475371 1(large_intestine) . . . . . . . . . . . 0.094 0.313 T 0.011 0.147 B 0.007 0.121 B . . . 1.000 0.090 P 1.39 0.351 L 0.86 0.468 T -1.57 0.379 N 0.117 0.129 -0.975 0.362 T 0.000 0.000 T . . . -0.251 0.072 0.855 0.855 0.154 0.011 0.040 N c -1.394 -1.539 1.000 0.747 0.707 0.730 0 -9.56 0.005 -1.911 0.017 0.109 0.204 0.000 0.063 0.013 0.120 4.513 0.112 . . . 0.5015 0.3774 0.4149 0.5901 0.4237 0.5984 0.5082 0.5257 0.5862 0.4903 0.3875 0.4591 0.5967 0.4268 0.6005 0.5289 0.5184 hom 1164.19 41 3 124746049 . A G 1164.19 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.62;MQ0=0;QD=28.39;VQSLOD=8.3362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:96.28:1197,96,0 3 124746182 124746182 C A exonic HEG1 synonymous SNV HEG1:NM_020733:exon3:c.G780T:p.P260P 0.51 0.47 0.48 0.48 0.55 0.6 0.5178 0.4534 0.4113 0.4332 0.6015 0.5267 0.5593 0.6025 0.49 0.45 0.51 0.56 . rs2333041 COSM3759693 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5176 0.4575 0.4268 0.6076 0.4286 0.6031 0.5178 0.5392 0.6008 0.5111 0.4598 0.4641 0.5967 0.4280 0.5999 0.5291 0.5246 hom 2165.36 72 3 124746182 . C A 2165.36 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8273;MQ=59.16;MQ0=0;QD=30.07;VQSLOD=9.2406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2198,169,0 3 124746347 124746347 T C exonic HEG1 synonymous SNV HEG1:NM_020733:exon3:c.A615G:p.S205S 0.77 0.79 0.72 0.89 0.62 0.8 0.6826 0.7532 0.7389 0.8822 0.6964 0.6094 0.7116 0.7950 0.65 0.76 0.6 0.8 . rs4404487 COSM3759694 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6833 0.7604 0.7272 0.6357 0.8897 0.7027 0.6019 0.6578 0.7845 0.6864 0.7551 0.7196 0.6192 0.8988 0.7017 0.6204 0.6704 hom 1243.51 45 3 124746347 . T C 1243.51 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=27.63;VQSLOD=8.3519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1277,105,0 3 124748226 124748226 G A exonic HEG1 synonymous SNV HEG1:NM_020733:exon2:c.C423T:p.G141G 0.49 0.38 0.47 0.48 0.55 0.6 0.5120 0.3796 0.4104 0.4360 0.6015 0.5270 0.5535 0.6025 0.46 0.37 0.51 0.51 . rs2860440 COSM1418564 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5124 0.3834 0.4248 0.6042 0.4294 0.6049 0.5178 0.5353 0.6003 0.4896 0.3868 0.4545 0.5927 0.4278 0.6002 0.5284 0.5173 hom 3737.64 113 3 124748226 . G A 3737.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.406;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8111;MQ=59.02;MQ0=0;MQRankSum=-0.076;QD=33.08;ReadPosRankSum=-0.359;VQSLOD=8.6960;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,111:113:99:3737,304,0 3 124802881 124802881 A G exonic SLC12A8 synonymous SNV SLC12A8:NM_001195483:exon13:c.T1998C:p.P666P,SLC12A8:NM_024628:exon14:c.T1998C:p.P666P 0.62 0.8 0.6 0.58 0.54 0.53 0.5446 0.7679 0.6023 0.5732 0.5962 0.5042 0.5406 0.5038 0.6 0.77 0.52 0.61 0.52 rs2981483 COSM5425187;COSM5425189;COSM5425188 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5510 0.7764 0.6162 0.4332 0.5835 0.6028 0.5088 0.5403 0.5069 0.6213 0.7803 0.6091 0.4503 0.5758 0.6112 0.5413 0.6060 het 411.04 42 3 124802881 . A G 411.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.531;DP=42;Dels=0.00;FS=1.283;HRun=4;HaplotypeScore=0.9789;MQ=57.99;MQ0=0;MQRankSum=0.960;QD=9.79;ReadPosRankSum=-0.253;VQSLOD=5.3688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,19:42:99:441,0,625 3 124802888 124802888 C T exonic SLC12A8 nonsynonymous SNV SLC12A8:NM_001195483:exon13:c.G1991A:p.R664Q,SLC12A8:NM_024628:exon14:c.G1991A:p.R664Q 0.62 0.8 0.6 0.58 0.54 0.52 0.5412 0.7661 0.6013 0.5708 0.5946 0.5028 0.5376 0.4889 0.6 0.78 0.52 0.61 0.52 rs2981482 . . . . . . . . . . . . . 0.452 0.136 T 0.012 0.247 B 0.007 0.139 B . . . 1 0.090 P 1.2 0.304 L -1.82 0.878 D -0.3 0.123 N 0.058 0.052 -0.952 0.407 T 0.000 0.000 T . . . 1.817 0.279 15.09 0.944 0.243 0.026 0.072 N c -0.936 -0.909 1.000 0.517 0.706 0.609 0 1.63 0.228 -0.210 0.093 -0.886 0.027 0.001 0.137 0.055 0.167 5.940 0.183 . . . 0.5483 0.7753 0.6155 0.4331 0.5821 0.6028 0.5073 0.5393 0.4935 0.6214 0.7808 0.6100 0.4503 0.5757 0.6116 0.5411 0.6049 het 382.53 40 3 124802888 . C T 382.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.790;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=57.88;MQ0=0;MQRankSum=-0.467;QD=9.56;ReadPosRankSum=0.949;VQSLOD=5.9464;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,17:40:99:413,0,549 3 124837684 124837684 T C exonic SLC12A8 nonsynonymous SNV SLC12A8:NM_001195483:exon7:c.A841G:p.I281V,SLC12A8:NM_024628:exon8:c.A841G:p.I281V 1. 1. 1. 1. 1. 1. 0.9997 0.9973 0.9998 0.9999 1 1.0000 0.9989 1 1. 1. 1. 0.98 0.98 rs621383 . . . . . . . . . . . . . 1.0 0.066 T 0.001 0.067 B 0.002 0.093 B . . . 0.992 0.240 P -1.045 0.011 N -5.13 0.987 D 0.21 0.050 N 0.096 0.240 -0.950 0.410 T 0.000 0.000 T . . . -0.863 0.037 0.031 0.649 0.074 0.006 0.026 N c -1.338 -1.203 1.000 0.437 0.706 0.609 0 1.6 0.226 0.686 0.249 -0.302 0.080 0.179 0.238 0.236 0.225 9.400 0.374 Amino acid permease/ SLC12A domain . . 0.9998 0.9971 0.9998 1 0.9999 1 1.0000 0.9998 1 0.9992 0.9971 1 1 1 1 0.9999 1 hom 1885 67 3 124837684 . T C 1885 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;QD=28.13;VQSLOD=8.7052;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1918,153,0 3 124839470 124839470 G A exonic SLC12A8 nonsynonymous SNV SLC12A8:NM_001195483:exon6:c.C797T:p.P266L,SLC12A8:NM_024628:exon7:c.C797T:p.P266L 0.98 0.94 0.99 1. 1. 1. 0.9947 0.9384 0.9974 1 1 0.9999 0.9977 1 0.98 0.94 1. 0.94 0.96 rs863642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9958 0.9407 0.9968 1 1 1 0.9999 0.9976 1 0.9825 0.9390 0.9976 1 1 1 1 0.9939 hom 1520.46 48 3 124839470 . G A 1520.46 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;QD=31.68;VQSLOD=9.7279;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1553,123,0 3 124951821 124951821 C T exonic ZNF148 synonymous SNV ZNF148:NM_001348426:exon8:c.G1749A:p.P583P,ZNF148:NM_001348431:exon8:c.G1749A:p.P583P,ZNF148:NM_001348434:exon8:c.G1623A:p.P541P,ZNF148:NM_001348428:exon9:c.G1749A:p.P583P,ZNF148:NM_001348430:exon9:c.G1749A:p.P583P,ZNF148:NM_001348432:exon9:c.G1749A:p.P583P,ZNF148:NM_001348433:exon9:c.G1749A:p.P583P,ZNF148:NM_021964:exon9:c.G1749A:p.P583P,ZNF148:NM_001348424:exon10:c.G1749A:p.P583P,ZNF148:NM_001348425:exon10:c.G1749A:p.P583P,ZNF148:NM_001348427:exon10:c.G1749A:p.P583P,ZNF148:NM_001348429:exon10:c.G1749A:p.P583P 0.71 0.88 0.63 0.53 0.75 0.66 0.7207 0.8527 0.5232 0.5091 0.7654 0.7679 0.7450 0.6754 0.79 0.85 0.76 0.72 0.66 rs1053738 COSM4407220 1(stomach);1(liver);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7120 0.8518 0.5421 0.8245 0.5081 0.7623 0.7636 0.7457 0.6773 0.7704 0.8560 0.5839 0.8444 0.5068 0.7589 0.7605 0.7709 hom 2813.06 88 3 124951821 . C T 2813.06 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.24;MQ0=0;QD=31.97;VQSLOD=9.7154;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2846,226,0 3 125648356 125648356 T C exonic ALG1L nonsynonymous SNV ALG1L:NM_001015050:exon6:c.A403G:p.N135D,ALG1L:NM_001195223:exon7:c.A463G:p.N155D 0.28 0.23 0.27 0.24 0.37 0.28 0.3402 0.2669 0.2352 0.2778 0.4371 0.3841 0.3783 0.2768 0.33 0.27 0.36 0.29 0.34 rs3828357 COSM4002436 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 0.081 0.334 T 0.594 0.373 P 0.164 0.333 B 0.001 0.407 D 0.000 0.524 P 1.665 0.427 L -0.48 0.703 T -2.91 0.609 D 0.019 0.004 -0.998 0.305 T 0.000 0.000 T . . . 0.922 0.182 10.21 0.961 0.281 0.891 0.491 D c -0.381 -0.426 0.884 0.257 0.622 0.393 0 2.3 0.276 4.932 0.629 0.491 0.279 1.000 0.715 0.018 0.130 8.154 0.301 . ENSG00000189366.5|ENSG00000189366.5|ENSG00000114547.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000241288.3|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000241278.1|ENSG00000241288.3|ENSG00000189366.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000241439.1|ENSG00000171084.11|ENSG00000241439.1|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114547.5|ENSG00000241439.1|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114547.5|ENSG00000171084.11|ENSG00000246022.2|ENSG00000189366.5|ENSG00000114547.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Thyroid|Thyroid|Thyroid|Thyroid 0.3369 0.2594 0.2336 0.4470 0.2791 0.4311 0.3823 0.3498 0.2819 0.3457 0.2683 0.2608 0.4367 0.2823 0.4335 0.3789 0.3643 hom 2930.80 90 3 125648356 . T C 2930.80 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=55.25;MQ0=0;QD=32.56;VQSLOD=6.5407;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2964,229,0 3 125725269 125725272 AACA - exonic SLC41A3 stopgain SLC41A3:NM_001008486:exon11:c.1394_1397del:p.L465fs*0,SLC41A3:NM_001008485:exon12:c.1502_1505del:p.L501fs*0 0.17 0.12 0.13 0.15 0.22 0.24 0.1835 0.1368 0.0953 0.1507 0.1247 0.2047 0.2086 0.2272 0.18 0.12 0.22 0.011 . rs377657493 COSM1579666 2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1764 0.1323 0.1074 0.2400 0.1464 0.1192 0.2012 0.1897 0.2196 0.1573 0.1369 0.1559 0.2550 0.1321 0.1239 0.1798 0.1281 het 865.86 72 3 125725268 . TAACA T 865.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.639;DP=72;FS=3.905;HRun=0;HaplotypeScore=323.2479;MQ=58.18;MQ0=0;MQRankSum=0.461;QD=12.03;ReadPosRankSum=0.461;set=variant2 GT:AD:DP:GQ:PL 0/1:51,21:72:99:905,0,3495 3 125726048 125726048 G C exonic SLC41A3 synonymous SNV SLC41A3:NM_001008486:exon10:c.C1167G:p.L389L,SLC41A3:NM_001008487:exon10:c.C1197G:p.L399L,SLC41A3:NM_001164475:exon10:c.C924G:p.L308L,SLC41A3:NM_001008485:exon11:c.C1275G:p.L425L,SLC41A3:NM_017836:exon11:c.C1275G:p.L425L 0.67 0.94 0.55 0.5 0.62 0.6 0.6096 0.8988 0.4144 0.4914 0.5303 0.6268 0.6437 0.5852 0.72 0.89 0.63 0.77 0.66 rs2279819 COSM3759697;COSM3759696 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5942 0.9017 0.4259 0.7334 0.4763 0.5270 0.6248 0.6182 0.5830 0.6607 0.8980 0.4892 0.6987 0.4635 0.5318 0.5900 0.5486 hom 2118.85 69 3 125726048 . G C 2118.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.477;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=58.85;MQ0=0;MQRankSum=1.528;QD=30.71;ReadPosRankSum=-1.630;VQSLOD=8.6186;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,68:69:99:2152,133,0 3 125775228 125775228 T C exonic SLC41A3 synonymous SNV SLC41A3:NM_001008487:exon1:c.A168G:p.T56T 0.99 0.98 1. 1. 1. 1. 0.9980 0.9781 0.9990 0.9999 1 1.0000 0.9989 1 0.99 0.98 1. 0.99 0.98 rs7613944 COSM4157219 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9765 0.9988 1 0.9999 1 1.0000 0.9996 0.9998 0.9939 0.9794 0.9952 1 1 1 0.9999 0.9969 hom 4151.08 147 3 125775228 . T C 4151.08 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7447;MQ=59.26;MQ0=0;QD=28.24;VQSLOD=6.8464;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4150,331,0 3 125786879 125786879 T C exonic SLC41A3 nonsynonymous SNV SLC41A3:NM_001008485:exon2:c.A184G:p.T62A,SLC41A3:NM_001008486:exon2:c.A184G:p.T62A,SLC41A3:NM_017836:exon2:c.A184G:p.T62A 0.99 0.97 1. 1. 1. 1. 0.9974 0.9720 0.9988 1 1 0.9999 0.9989 0.9999 0.99 0.97 1. 0.99 0.98 rs4234270 . . . . . . . . . . . . . 0.604 0.066 T 0.0 0.026 B 0.0 0.040 B 0.089 0.204 N 1 0.189 P -1.085 0.010 N 1.55 0.299 T 0.84 0.038 N 0.007 0.358 -1.030 0.205 T 0.000 0.000 T . . . -2.123 0.006 0.001 0.474 0.038 0.000 0.003 N c -1.749 -1.755 0.355 0.197 0.732 0.924 0 -4.75 0.030 -1.512 0.023 -0.513 0.050 0.000 0.063 0.002 0.062 5.073 0.139 . . . 0.9980 0.9711 0.9987 1 1 1 0.9999 0.9996 0.9997 0.9924 0.9740 0.9952 1 1 1 0.9999 0.9969 hom 7351.46 250 3 125786879 . T C 7351.46 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2601;MQ=58.91;MQ0=0;QD=29.41;VQSLOD=8.1770;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7350,590,0 3 125826059 125826059 T C exonic ALDH1L1 nonsynonymous SNV ALDH1L1:NM_001270365:exon19:c.A2075G:p.D692G,ALDH1L1:NM_001270364:exon21:c.A2408G:p.D803G,ALDH1L1:NM_012190:exon21:c.A2378G:p.D793G 0.2 0.23 0.16 0.13 0.22 0.24 0.1886 0.2181 0.1009 0.1342 0.1242 0.2033 0.2181 0.2252 0.21 0.21 0.22 0.2 0.24 rs1127717 COSM3759700 1(large_intestine) . . . . . . . . . . . 0.105 0.327 T 0.011 0.186 B 0.058 0.313 B 0.012 0.295 N 0.997 0.508 P 1.64 0.420 L -1.01 0.762 T -4.06 0.745 D 0.187 0.260 -1.056 0.127 T 0.000 0.001 T . . . 2.622 0.376 20.3 0.984 0.407 0.763 0.371 D c -0.439 -0.362 0.999 0.376 0.615 0.372 0 3.98 0.452 3.980 0.564 1.011 0.635 0.989 0.365 0.947 0.422 10.872 0.459 Aldehyde dehydrogenase domain|Aldehyde dehydrogenase\x2c C-terminal|Aldehyde/histidinol dehydrogenase ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000241288.3|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000250012.1|ENSG00000114544.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000241288.3|ENSG00000171084.11|ENSG00000114544.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000171084.11|ENSG00000114544.11|ENSG00000241439.1|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000171084.11|ENSG00000189366.5|ENSG00000241439.1|ENSG00000171084.11|ENSG00000189366.5|ENSG00000114544.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000171084.11|ENSG00000248787.1|ENSG00000114544.11|ENSG00000171084.11|ENSG00000114547.5|ENSG00000171084.11|ENSG00000189366.5|ENSG00000250012.1|ENSG00000114544.11|ENSG00000171084.11|ENSG00000114544.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1844 0.2196 0.1143 0.2652 0.1332 0.1200 0.2024 0.1978 0.2248 0.1828 0.2263 0.1567 0.2852 0.1279 0.1242 0.1799 0.1324 het 2670.97 184 3 125826059 . T C 2670.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.733;DP=184;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3881;MQ=59.24;MQ0=0;MQRankSum=1.660;QD=14.52;ReadPosRankSum=1.738;VQSLOD=5.5978;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,102:184:99:2701,0,2172 3 125877290 125877290 G A exonic ALDH1L1 nonsynonymous SNV ALDH1L1:NM_001270364:exon3:c.C350T:p.P117L,ALDH1L1:NM_001270365:exon3:c.C320T:p.P107L,ALDH1L1:NM_012190:exon3:c.C320T:p.P107L 0.0004 . . . 0.002 . 0.0008 0.0003 0.0003 0 0 0.0014 0 0.0002 0.0008 0.0002 0.001 . . rs149080804 . . . . . . . . . . . . . 0.001 0.912 D 1.0 0.899 D 0.999 0.971 D 0.000 0.843 D 1 0.810 D 4.35 0.985 H -1.97 0.852 D -8.96 0.988 D 0.834 0.860 0.927 0.961 D 0.836 0.945 D 0.083 0.741 D 6.257 0.864 28.9 0.999 0.949 0.989 0.879 D c 0.948 0.822 1.000 0.747 0.581 0.326 0 4.84 0.620 9.822 0.983 0.998 0.613 1.000 0.715 0.602 0.289 15.449 0.749 Formyl transferase\x2c N-terminal . . 0.0006 0.0001 0.0003 0 0 0 0.0011 0.0011 0.0002 0.0005 0 0.0012 0 0 0 0.0009 0.0010 het 535.91 41 3 125877290 . G A 535.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.516;DP=41;Dels=0.00;FS=2.304;HRun=0;HaplotypeScore=3.4114;MQ=58.87;MQ0=0;MQRankSum=-0.196;QD=13.07;ReadPosRankSum=-1.216;VQSLOD=4.1976;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,19:41:99:566,0,618 3 126194076 126194076 T C exonic ZXDC synonymous SNV ZXDC:NM_001040653:exon1:c.A633G:p.P211P,ZXDC:NM_025112:exon1:c.A633G:p.P211P 0.55 0.28 0.57 0.57 0.67 0.74 0.6771 0.3859 0.6122 0.6011 0.7073 0.6936 0.7078 0.7578 0.58 0.37 0.68 0.45 0.2 rs812367 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6404 0.3325 0.5737 0.6391 0.5660 0.6507 0.6789 0.6389 0.7447 0.5616 0.3412 0.6075 0.6093 0.5841 0.6336 0.6618 0.6407 hom 439.77 17 3 126194076 . T C 439.77 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.87;VQSLOD=13.0454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:45.05:473,45,0 3 126202257 126202257 G A exonic UROC1 synonymous SNV UROC1:NM_144639:exon19:c.C1845T:p.A615A,UROC1:NM_001165974:exon20:c.C2025T:p.A675A 0.41 0.19 0.47 0.49 0.52 0.47 0.4724 0.2363 0.4811 0.4732 0.4733 0.5058 0.5156 0.4763 0.43 0.23 0.53 0.35 0.61 rs1687477 COSM1484555;COSM445508 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign not_specified RCV000118813.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4802 0.2312 0.4903 0.4773 0.4791 0.4627 0.5168 0.4790 0.4745 0.4134 0.2306 0.4868 0.4735 0.4858 0.4444 0.4967 0.4570 het 1146.15 85 3 126202257 . G A 1146.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.476;DP=85;Dels=0.00;FS=4.428;HRun=0;HaplotypeScore=0.8321;MQ=59.78;MQ0=0;MQRankSum=-0.390;QD=13.48;ReadPosRankSum=0.408;VQSLOD=6.3619;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,44:85:99:1176,0,1139 3 126708453 126708453 T C exonic PLXNA1 synonymous SNV PLXNA1:NM_032242:exon1:c.T1017C:p.T339T 0.47 0.71 0.35 0.42 0.34 0.43 0.3556 0.6626 0.2869 0.4243 0.3018 0.3096 0.3192 0.3834 0.43 0.65 0.32 0.6 0.34 rs6773789 COSM445515 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3466 0.6656 0.2938 0.3461 0.4194 0.3029 0.3073 0.3441 0.3796 0.4040 0.6467 0.2871 0.2980 0.4202 0.3104 0.2978 0.3094 het 2467.02 193 3 126708453 . T C 2467.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.802;DP=193;Dels=0.00;FS=1.841;HRun=1;HaplotypeScore=3.8853;MQ=59.90;MQ0=0;MQRankSum=0.861;QD=12.78;ReadPosRankSum=-0.368;VQSLOD=5.5830;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,91:193:99:2497,0,3039 3 126723549 126723549 C T exonic PLXNA1 synonymous SNV PLXNA1:NM_032242:exon4:c.C1614T:p.H538H 0.15 0.096 0.055 0.2 0.12 0.26 0.1878 0.1348 0.1057 0.2535 0.2762 0.1667 0.16 0.2490 0.097 0.091 0.1 0.065 0.049 rs28710010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1158 0.0972 0.0427 0.0526 0.1751 0.1427 0.1053 0.1102 0.2079 0.1045 0.0903 0.0418 0.0397 0.1691 0.1346 0.1024 0.1230 het 150.77 18 3 126723549 . C T 150.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.421;DP=18;Dels=0.00;FS=1.778;HRun=0;HaplotypeScore=1.8640;MQ=60.00;MQ0=0;MQRankSum=0.222;QD=8.38;ReadPosRankSum=-0.133;VQSLOD=5.3427;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:181,0,306 3 126726705 126726705 A G exonic PLXNA1 synonymous SNV PLXNA1:NM_032242:exon8:c.A2061G:p.T687T 0.15 0.1 0.06 0.2 0.13 0.26 0.1231 0.1048 0.0435 0.1747 0.1375 0.1098 0.1142 0.2124 0.11 0.099 0.11 0.087 0.15 rs9876615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1191 0.1025 0.0437 0.0551 0.1736 0.1422 0.1128 0.1157 0.2062 0.1140 0.1007 0.0442 0.0430 0.1700 0.1422 0.1134 0.1309 het 1518.19 114 3 126726705 . A G 1518.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.344;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=58.91;MQ0=0;MQRankSum=-1.374;QD=13.32;ReadPosRankSum=-0.009;VQSLOD=5.7095;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,62:114:99:1548,0,1427 3 126735453 126735453 C T exonic PLXNA1 synonymous SNV PLXNA1:NM_032242:exon15:c.C3108T:p.T1036T 0.15 0.095 0.055 0.21 0.12 0.26 0.1159 0.0962 0.0404 0.1773 0.1331 0.0983 0.1114 0.2136 0.098 0.091 0.1 0.065 0.17 rs9858521 COSM4416353 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1127 0.0945 0.0403 0.0539 0.1764 0.1374 0.1006 0.1084 0.2109 0.1047 0.0910 0.0406 0.0397 0.1708 0.1346 0.1023 0.1219 het 1479.67 114 3 126735453 . C T 1479.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.783;DP=114;Dels=0.00;FS=7.340;HRun=0;HaplotypeScore=3.3293;MQ=59.43;MQ0=0;MQRankSum=0.256;QD=12.98;ReadPosRankSum=0.583;VQSLOD=4.7457;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,56:114:99:1510,0,1631 3 126737268 126737268 C A exonic PLXNA1 synonymous SNV PLXNA1:NM_032242:exon19:c.C3792A:p.L1264L 0.54 0.33 0.61 0.6 0.66 0.59 0.6394 0.4093 0.6044 0.5264 0.7476 0.6952 0.6749 0.5987 0.6 0.43 0.69 0.46 0.64 rs4679323 COSM3759705 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6430 0.4077 0.5992 0.6523 0.5287 0.7506 0.6956 0.6549 0.5985 0.6180 0.4257 0.5995 0.6689 0.5019 0.7428 0.7074 0.7094 het 1090.56 100 3 126737268 . C A 1090.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.958;DP=100;Dels=0.00;FS=2.719;HRun=1;HaplotypeScore=2.9329;MQ=59.21;MQ0=0;MQRankSum=-1.191;QD=10.91;ReadPosRankSum=1.212;VQSLOD=5.6804;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,42:100:99:1121,0,1611 3 127323830 127323830 C T exonic MCM2 synonymous SNV MCM2:NM_004526:exon4:c.C504T:p.I168I 0.6 0.48 0.61 0.63 0.78 0.52 0.6846 0.5303 0.5310 0.6687 0.7434 0.7589 0.7129 0.5728 0.68 0.53 0.75 0.65 0.51 rs893293 COSM4157232 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6853 0.5300 0.5509 0.7531 0.6575 0.7462 0.7627 0.7117 0.5739 0.6787 0.5422 0.5955 0.7219 0.6582 0.75 0.7475 0.6745 hom 3900.20 107 3 127323830 . C T 3900.20 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8055;MQ=59.78;MQ0=0;QD=36.45;VQSLOD=9.5149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3900,316,0 3 127337927 127337927 A G exonic MCM2 nonsynonymous SNV MCM2:NM_004526:exon13:c.A2071G:p.K691E . . . . . . 0.0001 0.0001 0 0 0 0.0002 0 0 0.0002 . 0.0002 . . rs150514271 . . . . . . . . . . . . . 0.831 0.029 T 0.355 0.319 B 0.115 0.303 B 0.000 0.843 D 1 0.810 D -0.28 0.037 N 3.39 0.057 T -0.26 0.112 N 0.25 0.305 -0.922 0.453 T 0.009 0.031 T 0.028 0.507 D 1.490 0.241 13.26 0.970 0.314 0.959 0.665 D c -0.218 0.046 1.000 0.747 0.707 0.730 0 5.46 0.799 8.611 0.906 1.028 0.649 1.000 0.715 0.995 0.604 15.515 0.754 MCM domain|P-loop containing nucleoside triphosphate hydrolase . . 8.231e-05 6.644e-05 0 0 0 0 0.0002 0 0 0.0001 0 0 0 0 0 0.0003 0 het 395.59 30 3 127337927 . A G 395.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.572;DP=30;Dels=0.00;FS=3.873;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=0.456;QD=13.19;ReadPosRankSum=-0.995;VQSLOD=3.9069;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,15:30:99:426,0,459 3 127394820 127394820 C T exonic ABTB1 synonymous SNV ABTB1:NM_172027:exon4:c.C183T:p.R61R 0.12 0.11 0.12 0.011 0.22 0.12 0.1705 0.1234 0.0755 0.0087 0.2958 0.2090 0.1902 0.1510 0.17 0.11 0.2 0.076 0.21 rs35703629 COSM4157234 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1677 0.1119 0.0840 0.2217 0.0064 0.2828 0.2041 0.1661 0.1487 0.1787 0.1095 0.1014 0.2417 0.0068 0.2735 0.2171 0.2004 het 235.01 27 3 127394820 . C T 235.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.775;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7197;MQ=58.61;MQ0=0;MQRankSum=0.962;QD=8.70;ReadPosRankSum=1.012;VQSLOD=5.6423;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:265,0,490 3 127540635 127540635 C T exonic MGLL synonymous SNV MGLL:NM_001003794:exon2:c.G27A:p.R9R,MGLL:NM_001256585:exon2:c.G57A:p.R19R,MGLL:NM_007283:exon2:c.G57A:p.R19R 0.016 . 0.022 . 0.051 0.012 0.0305 0.0059 0.0176 0.0001 0.0445 0.0435 0.0278 0.0122 0.032 0.0085 0.042 0.022 0.074 rs11538698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0295 0.0059 0.0173 0.0486 0.0001 0.0408 0.0420 0.0332 0.0111 0.0294 0.0068 0.0239 0.0331 0 0.0413 0.0429 0.0347 het 1518.95 132 3 127540635 . C T 1518.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.344;DP=132;Dels=0.00;FS=5.358;HRun=1;HaplotypeScore=1.9120;MQ=59.50;MQ0=0;MQRankSum=-0.132;QD=11.51;ReadPosRankSum=0.114;VQSLOD=5.5871;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,63:132:99:1549,0,1804 3 127641968 127641968 C A exonic KBTBD12 nonsynonymous SNV KBTBD12:NM_207335:exon1:c.C64A:p.Q22K 0.69 0.85 0.49 0.67 0.57 0.77 0.6095 0.8118 0.5014 0.6316 0.5506 0.5708 0.5658 0.7356 0.64 0.81 0.57 0.74 . rs4141499 COSM1418734;COSM1418735 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P -0.195 0.042 N -0.47 0.701 T 0.49 0.030 N 0.025 0.007 -0.964 0.383 T 0.000 0.000 T . . . -0.493 0.056 0.228 0.190 0.006 0.030 0.078 N c -0.751 -0.588 0.459 0.206 0.487 0.133 0 4.54 0.551 4.061 0.570 0.124 0.212 0.997 0.399 0.994 0.587 12.990 0.578 SKP1/BTB/POZ domain . . 0.5983 0.8167 0.4964 0.5562 0.6348 0.5503 0.5700 0.5779 0.7353 0.6388 0.8140 0.5610 0.5232 0.6431 0.5418 0.5700 0.5688 het 964.91 62 3 127641968 . C A 964.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.549;DP=62;Dels=0.00;FS=2.216;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=0.545;QD=15.56;ReadPosRankSum=-1.033;VQSLOD=6.2958;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,37:62:99:995,0,618 3 127642814 127642814 G C exonic KBTBD12 nonsynonymous SNV KBTBD12:NM_207335:exon1:c.G910C:p.V304L 0.19 0.17 0.085 0.23 0.12 0.33 0.1573 0.1591 0.0740 0.2035 0.1184 0.1310 0.1607 0.3123 0.14 0.17 0.13 0.15 . rs61268888 COSM3759708;COSM3759707 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.647 0.049 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.41 0.124 N -0.19 0.659 T -0.38 0.134 N 0.024 0.008 -1.069 0.096 T 0.000 0.000 T . . . -0.948 0.034 0.020 0.556 0.053 0.139 0.179 N c -1.070 -1.020 0.005 0.108 0.554 0.246 0 -1.1 0.093 0.547 0.228 0.093 0.196 0.000 0.063 0.714 0.313 2.481 0.043 Kelch-type beta propeller . . 0.1525 0.1605 0.0755 0.1412 0.2022 0.1240 0.1303 0.1427 0.3107 0.1406 0.1604 0.0859 0.1192 0.1897 0.1272 0.1298 0.1493 het 1092.19 90 3 127642814 . G C 1092.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.870;DP=90;Dels=0.00;FS=0.795;HRun=0;HaplotypeScore=4.1434;MQ=58.81;MQ0=0;MQRankSum=1.311;QD=12.14;ReadPosRankSum=0.703;VQSLOD=5.2273;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,37:90:99:1122,0,1426 3 127983495 127983495 T C exonic EEFSEC synonymous SNV EEFSEC:NM_021937:exon4:c.T657C:p.D219D 0.84 0.7 0.86 0.99 0.88 0.83 0.8724 0.7194 0.9146 0.9965 0.8775 0.8811 0.8811 0.8367 0.82 0.72 0.88 0.79 0.92 rs2811544 COSM4408691 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8772 0.7144 0.9139 0.8799 0.9963 0.8804 0.8810 0.8809 0.8338 0.8380 0.7206 0.8508 0.8742 0.9975 0.8847 0.8749 0.8640 hom 7694.14 246 3 127983495 . T C 7694.14 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.2066;MQ=59.28;MQ0=0;QD=31.28;VQSLOD=7.4322;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:246:99:7661,596,0 3 128181777 128181777 A G exonic DNAJB8 synonymous SNV DNAJB8:NM_153330:exon3:c.T312C:p.F104F 0.47 0.39 0.54 0.41 0.64 0.45 0.5563 0.4095 0.4421 0.3469 0.7625 0.6283 0.5905 0.4626 0.55 0.41 0.62 0.5 0.55 rs2659690 COSM4002439 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5584 0.4089 0.4530 0.5877 0.3475 0.7631 0.6270 0.5597 0.4610 0.5703 0.4211 0.4821 0.6026 0.3424 0.7638 0.6371 0.6276 het 1320.72 119 3 128181777 . A G 1320.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.799;DP=119;Dels=0.00;FS=0.676;HRun=0;HaplotypeScore=5.4387;MQ=58.82;MQ0=0;MQRankSum=1.070;QD=11.10;ReadPosRankSum=-0.542;VQSLOD=5.4372;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,54:119:99:1351,0,1667 3 128182074 128182074 G A exonic DNAJB8 synonymous SNV DNAJB8:NM_153330:exon3:c.C15T:p.Y5Y 0.31 0.13 0.36 0.49 0.28 0.36 0.3062 0.1504 0.4900 0.5481 0.1691 0.2607 0.3063 0.3900 0.23 0.15 0.26 0.3 0.26 rs2981026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3105 0.1416 0.4779 0.2921 0.5473 0.1664 0.2601 0.3147 0.3706 0.2370 0.1471 0.4329 0.2848 0.5527 0.1657 0.2583 0.2654 het 1543.31 132 3 128182074 . G A 1543.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.119;DP=132;Dels=0.00;FS=2.927;HRun=0;HaplotypeScore=2.3696;MQ=59.51;MQ0=0;MQRankSum=-0.961;QD=11.69;ReadPosRankSum=-0.486;VQSLOD=6.2222;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,57:132:99:1573,0,2184 3 128204951 128204951 C T exonic GATA2 nonsynonymous SNV GATA2:NM_001145662:exon3:c.G490A:p.A164T,GATA2:NM_032638:exon3:c.G490A:p.A164T,GATA2:NM_001145661:exon4:c.G490A:p.A164T 0.23 0.22 0.24 0.38 0.18 0.15 0.2056 0.1903 0.3041 0.3840 0.1997 0.1705 0.2342 0.1941 0.16 0.17 0.16 0.21 0.14 rs2335052 COSM445531 13(soft_tissue);1(large_intestine) Benign|Likely benign not_specified|Lymphedema\x2c_primary\x2c_with_myelodysplasia RCV000121149.2|RCV000332089.1 MedGen|MedGen:OMIM:Orphanet CN169374|C3279664:614038:ORPHA3226 . . . . . . 0.403 0.104 T 0.013 0.154 B 0.025 0.193 B 0.004 0.337 N 0.729 0.298 P 0 0.065 N -4.32 0.972 D -0.53 0.164 N 0.117 0.129 -1.065 0.107 T 0.000 0.000 T . . . 1.482 0.240 13.22 0.990 0.494 0.910 0.525 D c -0.614 -0.459 1.000 0.489 0.543 0.218 0 1.83 0.242 0.635 0.241 0.739 0.307 0.716 0.285 0.999 0.750 9.555 0.383 . . . 0.1973 0.1794 0.2748 0.2254 0.3788 0.1766 0.1538 0.1954 0.1823 0.1800 0.1769 0.2524 0.2185 0.3781 0.1862 0.1533 0.1933 het 433.03 28 3 128204951 . C T 433.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.952;DP=28;Dels=0.00;FS=2.049;HRun=1;HaplotypeScore=1.8245;MQ=57.48;MQ0=0;MQRankSum=-0.395;QD=15.47;ReadPosRankSum=1.973;VQSLOD=3.9535;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,16:28:99:463,0,306 3 128205860 128205860 G C exonic GATA2 synonymous SNV GATA2:NM_001145662:exon2:c.C15G:p.P5P,GATA2:NM_032638:exon2:c.C15G:p.P5P,GATA2:NM_001145661:exon3:c.C15G:p.P5P 0.71 0.82 0.7 0.69 0.66 0.62 0.6943 0.7919 0.7239 0.7209 0.5910 0.6778 0.7198 0.6870 0.69 0.78 0.65 0.6 0.28 rs1573858 COSM3749812 1(thyroid);4(large_intestine) Benign|Benign not_specified|Lymphedema\x2c_primary\x2c_with_myelodysplasia RCV000244510.1|RCV000395196.1 MedGen|MedGen:OMIM:Orphanet CN169374|C3279664:614038:ORPHA3226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6638 0.7860 0.7088 0.7512 0.7079 0.5323 0.6386 0.6734 0.6731 0.6532 0.7816 0.7236 0.7318 0.7293 0.5255 0.5987 0.5903 hom 308.83 10 3 128205860 . G C 308.83 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=30.88;VQSLOD=7.8156;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:342,30,0 3 128344786 128344786 G A exonic RPN1 synonymous SNV RPN1:NM_002950:exon7:c.C1206T:p.D402D 0.24 0.14 0.2 0.41 0.21 0.24 0.2243 0.1456 0.1909 0.4215 0.1505 0.2246 0.2159 0.2233 0.2 0.14 0.23 0.15 0.25 rs1126828 COSM149463 1(stomach);1(haematopoietic_and_lymphoid_tissue);11(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2239 0.1434 0.1963 0.1878 0.4187 0.1514 0.2295 0.2281 0.2278 0.2038 0.1467 0.2255 0.2086 0.4323 0.1454 0.2251 0.2 het 1005.13 65 3 128344786 . G A 1005.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.268;DP=65;Dels=0.00;FS=1.027;HRun=0;HaplotypeScore=1.8932;MQ=58.27;MQ0=0;MQRankSum=-0.047;QD=15.46;ReadPosRankSum=0.845;VQSLOD=5.4659;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,38:65:99:1035,0,785 3 128356852 128356852 C T exonic RPN1 synonymous SNV RPN1:NM_002950:exon3:c.G423A:p.P141P 0.63 0.61 0.59 0.75 0.63 0.57 0.6094 0.5956 0.5901 0.7493 0.6143 0.6089 0.6222 0.5574 0.6 0.58 0.61 0.59 0.63 rs1697 COSM3759710 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6119 0.5957 0.5893 0.6243 0.7455 0.6137 0.6119 0.6231 0.5623 0.6160 0.5963 0.5659 0.6490 0.7754 0.6144 0.6125 0.6207 hom 3418.43 100 3 128356852 . C T 3418.43 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;QD=34.18;VQSLOD=10.0473;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3418,277,0 3 128525253 128525253 C T exonic RAB7A synonymous SNV RAB7A:NM_004637:exon4:c.C219T:p.L73L 0.019 0.0008 0.033 . 0.068 0.0051 0.0434 0.0099 0.0397 0.0006 0.0591 0.0623 0.0496 0.0065 0.045 0.012 0.062 0.033 0.082 rs4548 COSM3759713 1(large_intestine) Benign|Likely benign not_specified|Charcot-Marie-Tooth\x2c_Type_2 RCV000127682.1|RCV000291196.1 MedGen|MedGen CN169374|CN239171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0442 0.0091 0.0406 0.0811 5.798e-05 0.0568 0.0611 0.0549 0.0065 0.0393 0.0115 0.0406 0.0695 0 0.0570 0.0549 0.0399 het 2566.32 195 3 128525253 . C T 2566.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.436;DP=195;Dels=0.00;FS=5.077;HRun=1;HaplotypeScore=6.9927;MQ=59.34;MQ0=0;MQRankSum=-0.730;QD=13.16;ReadPosRankSum=0.369;VQSLOD=4.6072;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,100:195:99:2596,0,2244 3 128614185 128614185 A C exonic ACAD9 synonymous SNV ACAD9:NM_014049:exon4:c.A379C:p.R127R 0.54 0.85 0.43 0.62 0.29 0.38 0.4018 0.7634 0.4471 0.6562 0.3028 0.3159 0.3825 0.3897 0.45 0.74 0.3 0.64 0.28 rs1680778 COSM3759716 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Acyl-CoA_dehydrogenase_family\x2c_member_9\x2c_deficiency_of RCV000152729.3|RCV000293617.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1970173:611126:ORPHA99901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3832 0.7658 0.4410 0.4113 0.6499 0.2829 0.2950 0.3684 0.3708 0.4393 0.7508 0.4342 0.39 0.6267 0.2704 0.2852 0.3205 het 533.73 58 3 128614185 . A C 533.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.303;DP=58;Dels=0.00;FS=5.719;HRun=0;HaplotypeScore=1.8110;MQ=58.30;MQ0=0;MQRankSum=1.467;QD=9.20;ReadPosRankSum=0.025;VQSLOD=4.8426;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,23:58:99:564,0,787 3 128890350 128890350 G A exonic CNBP synonymous SNV CNBP:NM_001127192:exon3:c.C156T:p.D52D,CNBP:NM_001127193:exon3:c.C156T:p.D52D,CNBP:NM_001127194:exon3:c.C135T:p.D45D,CNBP:NM_001127195:exon3:c.C135T:p.D45D,CNBP:NM_001127196:exon3:c.C135T:p.D45D,CNBP:NM_003418:exon3:c.C156T:p.D52D 0.76 0.36 0.87 0.89 0.98 0.86 0.8900 0.4312 0.8706 0.8834 0.9522 0.9677 0.9119 0.8555 0.79 0.44 0.97 0.65 0.93 rs4303883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9001 0.4242 0.8754 0.9560 0.8817 0.9570 0.9709 0.9207 0.8543 0.8129 0.4454 0.8902 0.9603 0.8795 0.9522 0.9711 0.9367 hom 4151.98 136 3 128890350 . G A 4151.98 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.681;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8625;MQ=58.58;MQ0=0;MQRankSum=-1.605;QD=30.53;ReadPosRankSum=0.892;VQSLOD=8.3839;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,135:136:99:4151,325,0 3 129140489 129140489 T C exonic EFCAB12 synonymous SNV EFCAB12:NM_207307:exon2:c.A207G:p.T69T 0.13 0.23 0.099 0.03 0.11 0.15 0.1004 0.1916 0.0698 0.0230 0.0416 0.0973 0.1303 0.1423 0.13 0.18 0.099 0.16 . rs3774788 COSM3759722 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0968 0.1893 0.0713 0.1708 0.0239 0.0394 0.0953 0.1099 0.1408 0.1051 0.1891 0.0766 0.1523 0.0173 0.0401 0.0837 0.0723 het 832.81 61 3 129140489 . T C 832.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.745;DP=61;Dels=0.00;FS=6.817;HRun=0;HaplotypeScore=1.7262;MQ=58.69;MQ0=0;MQRankSum=0.355;QD=13.65;ReadPosRankSum=0.340;VQSLOD=4.4894;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,33:61:99:863,0,783 3 129152089 129152089 G A exonic MBD4 synonymous SNV MBD4:NM_001276273:exon5:c.C459T:p.G153G,MBD4:NM_001276270:exon6:c.C1395T:p.G465G,MBD4:NM_001276271:exon6:c.C1413T:p.G471G,MBD4:NM_001276272:exon6:c.C1413T:p.G471G,MBD4:NM_003925:exon6:c.C1413T:p.G471G 0.17 0.23 0.094 0.091 0.11 0.27 0.1224 0.2199 0.0683 0.0756 0.0419 0.0981 0.1435 0.2532 0.14 0.22 0.1 0.17 0.082 rs140696 COSM3759723 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1163 0.2213 0.0699 0.1695 0.0755 0.0398 0.0962 0.1187 0.2482 0.1152 0.2107 0.0682 0.1490 0.0699 0.0395 0.0863 0.0786 het 1094.05 99 3 129152089 . G A 1094.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.368;DP=99;Dels=0.00;FS=0.820;HRun=0;HaplotypeScore=3.4944;MQ=59.34;MQ0=0;MQRankSum=-1.533;QD=11.05;ReadPosRankSum=0.213;VQSLOD=5.6494;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,48:99:99:1124,0,1223 3 129155670 129155670 C T exonic MBD4 nonsynonymous SNV MBD4:NM_001276270:exon3:c.G817A:p.A273T,MBD4:NM_001276271:exon3:c.G817A:p.A273T,MBD4:NM_001276272:exon3:c.G817A:p.A273T,MBD4:NM_003925:exon3:c.G817A:p.A273T 0.082 0.063 0.069 0.071 0.099 0.11 0.0811 0.0691 0.0557 0.0581 0.0402 0.0864 0.1101 0.1114 0.081 0.067 0.088 0.098 0.074 rs10342 COSM3759724 1(large_intestine) . . . . . . . . . . . 0.305 0.149 T 0.024 0.200 B 0.007 0.166 B 0.354 0.043 N 1 0.090 P 1.055 0.270 L -3.05 0.936 D -0.9 0.249 N 0.018 0.006 -0.718 0.596 T 0.046 0.196 T . . . 0.534 0.145 7.685 0.837 0.144 0.064 0.123 N c -1.093 -1.093 1.000 0.462 0.722 0.854 0 -0.944 0.098 0.275 0.183 0.065 0.171 0.001 0.137 0.006 0.095 1.921 0.031 . ENSG00000172771.7|ENSG00000163913.7|ENSG00000163913.7 Adipose_Subcutaneous|Heart_Left_Ventricle|Nerve_Tibial 0.0801 0.0692 0.0559 0.1651 0.0601 0.0372 0.0842 0.0952 0.1097 0.0684 0.0690 0.0513 0.1490 0.0537 0.0387 0.0764 0.0612 het 1948.13 216 3 129155670 . C T 1948.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.961;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7877;MQ=59.51;MQ0=0;MQRankSum=0.328;QD=9.02;ReadPosRankSum=0.690;VQSLOD=5.9850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:135,81:216:99:1978,0,3627 3 129275206 129275206 C T exonic PLXND1 synonymous SNV PLXND1:NM_015103:exon36:c.G5727A:p.Q1909Q 0.23 0.33 0.2 0.21 0.14 0.24 0.1679 0.2867 0.2203 0.2328 0.0794 0.1233 0.1817 0.2374 0.18 0.28 0.13 0.27 0.15 rs11920311 COSM5619088 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1676 0.2897 0.2231 0.1659 0.2244 0.0775 0.1258 0.1515 0.2349 0.1705 0.2904 0.1878 0.1623 0.2311 0.0782 0.1185 0.1166 het 2990.15 224 3 129275206 . C T 2990.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.384;DP=224;Dels=0.00;FS=2.273;HRun=1;HaplotypeScore=1.8255;MQ=59.28;MQ0=0;MQRankSum=-0.148;QD=13.35;ReadPosRankSum=-0.306;VQSLOD=6.7895;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,113:224:99:3020,0,3082 3 129281980 129281980 C T exonic PLXND1 nonsynonymous SNV PLXND1:NM_015103:exon26:c.G4625A:p.S1542N 1. 1. 1. 1. 1. 1. 0.9999 1 0.9999 1 1 0.9999 1 0.9999 1. 1. 1. 0.87 0.75 rs2713625 COSM4157247;COSM4157248 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.05 0.011 N 2.9 0.101 T 3.46 0.001 N 0.084 0.175 -0.971 0.369 T 0.000 0.000 T . . . 1.026 0.192 10.81 0.279 0.014 0.127 0.173 N c -0.725 -0.505 1.000 0.747 0.722 0.854 0 4.09 0.469 4.247 0.583 0.154 0.240 1.000 0.715 0.994 0.587 9.644 0.388 Plexin\x2c cytoplasmic RasGAP domain . . 0.9999 1 0.9998 1 1 1 0.9999 1 0.9999 1.0000 1 1 1 1 1 0.9999 1 hom 1422.14 46 3 129281980 . C T 1422.14 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.657;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8301;MQ=58.99;MQ0=0;MQRankSum=1.657;QD=30.92;ReadPosRankSum=0.151;VQSLOD=8.1945;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,45:46:99:1455,117,0 3 129284818 129284818 A C exonic PLXND1 nonsynonymous SNV PLXND1:NM_015103:exon24:c.T4234G:p.L1412V 0.18 0.22 0.19 0.003 0.31 0.16 0.2239 0.2136 0.1322 0.0008 0.2346 0.2753 0.2693 0.1977 0.26 0.22 0.28 0.2 0.22 rs2625973 COSM3759727;COSM3759726 1(large_intestine) . . . . . . . . . . . 0.163 0.234 T 0.98 0.899 D 0.95 0.875 D 0.000 0.629 D 0.001 0.452 P 2.19 0.618 M 2.34 0.164 T -1.51 0.368 N 0.251 0.442 -1.040 0.171 T 0.000 0.000 T . . . 2.684 0.384 20.7 0.990 0.497 0.799 0.394 D c 0.125 0.028 1.000 0.454 0.672 0.522 0 2.2 0.268 1.777 0.380 0.065 0.171 1.000 0.715 0.997 0.653 9.437 0.376 Plexin\x2c cytoplasmic RasGAP domain|Rho GTPase activation protein ENSG00000242551.2 Prostate 0.2215 0.2171 0.1399 0.3113 0.0008 0.2334 0.2766 0.2368 0.1971 0.2290 0.2153 0.1671 0.3146 0 0.2344 0.2617 0.2373 het 965.13 85 3 129284818 . A C 965.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.380;DP=85;Dels=0.00;FS=1.803;HRun=0;HaplotypeScore=0.9159;MQ=59.56;MQ0=0;MQRankSum=0.438;QD=11.35;ReadPosRankSum=-0.084;VQSLOD=6.9170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:995,0,1248 3 129286413 129286413 G C exonic PLXND1 synonymous SNV PLXND1:NM_015103:exon22:c.C4008G:p.L1336L 0.52 0.6 0.38 0.74 0.35 0.44 0.4176 0.5764 0.4073 0.7554 0.3259 0.3452 0.4226 0.4505 0.4 0.55 0.32 0.49 0.25 rs2245285 COSM3759729;COSM3759728 2(breast);3(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3903 0.5702 0.3921 0.4491 0.7514 0.2809 0.3152 0.3652 0.4300 0.4022 0.5656 0.3609 0.4503 0.7639 0.2881 0.3015 0.3208 het 625.46 45 3 129286413 . G C 625.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.034;DP=45;Dels=0.00;FS=2.660;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.396;QD=13.90;ReadPosRankSum=-0.942;VQSLOD=5.5837;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:655,0,590 3 129286635 129286635 G A exonic PLXND1 synonymous SNV PLXND1:NM_015103:exon21:c.C3879T:p.F1293F 0.26 0.23 0.19 0.39 0.31 0.2 0.2653 0.2270 0.1620 0.3637 0.2418 0.2851 0.2995 0.2361 0.26 0.23 0.28 0.2 0.24 rs2245278 COSM3759730;COSM3759731 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2554 0.2243 0.1648 0.3134 0.3696 0.2373 0.2780 0.2575 0.2187 0.2533 0.2217 0.1890 0.3146 0.3918 0.2388 0.2627 0.2515 het 1792.23 123 3 129286635 . G A 1792.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.951;DP=123;Dels=0.00;FS=20.854;HRun=2;HaplotypeScore=0.9979;MQ=59.24;MQ0=0;MQRankSum=-0.372;QD=14.57;ReadPosRankSum=0.182;VQSLOD=2.8136;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,64:123:99:1822,0,1497 3 129291751 129291751 T C exonic PLXND1 synonymous SNV PLXND1:NM_015103:exon14:c.A2871G:p.P957P 0.43 0.6 0.29 0.51 0.35 0.3 0.3429 0.5754 0.2402 0.5022 0.2858 0.3177 0.3853 0.3057 0.4 0.57 0.32 0.41 0.25 rs2244708 COSM3759734;COSM1418852 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3338 0.5811 0.2457 0.4519 0.5084 0.2751 0.3096 0.3321 0.3021 0.3857 0.5796 0.2763 0.4503 0.5130 0.2794 0.2935 0.3097 het 372.60 58 3 129291751 . T C 372.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.399;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0034;MQ=58.70;MQ0=0;MQRankSum=1.095;QD=6.42;ReadPosRankSum=0.309;VQSLOD=4.6882;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,21:58:99:403,0,963 3 129293183 129293183 T C exonic PLXND1 nonsynonymous SNV PLXND1:NM_015103:exon12:c.A2681G:p.H894R 0.99 0.96 1. 1. 1. 1. 0.9974 0.9699 0.9986 1 1 0.9998 0.9984 0.9997 0.99 0.97 1. 0.99 0.75 rs2625962 COSM3749813;COSM3749814 3(large_intestine) . . . . . . . . . . . 0.724 0.039 T 0.0 0.026 B 0.002 0.063 B 0.070 0.216 N 1.000 0.090 P 0.325 0.104 N -0.9 0.749 T -0.82 0.225 N 0.115 0.126 -0.945 0.419 T 0.000 0.000 T . . . -1.009 0.032 0.015 0.222 0.009 0.104 0.158 N c -1.080 -0.996 1.000 0.419 0.672 0.522 0 3.29 0.366 1.133 0.308 -0.025 0.128 0.650 0.279 0.168 0.210 8.875 0.343 IPT domain|Immunoglobulin E-set . . 0.9977 0.9662 0.9985 0.9993 0.9999 1 0.9998 0.9990 0.9998 0.9914 0.9704 1 0.9901 1 1 0.9999 0.9979 hom 545.75 17 3 129293183 . T C 545.75 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=58.63;MQ0=0;QD=32.10;VQSLOD=8.5184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.14:579,48,0 3 129293256 129293256 T C exonic PLXND1 nonsynonymous SNV PLXND1:NM_015103:exon12:c.A2608G:p.M870V 0.51 0.72 0.36 0.51 0.41 0.44 0.4201 0.6789 0.2801 0.5042 0.3439 0.3957 0.4791 0.4366 0.49 0.67 0.39 0.47 0.32 rs2255703 COSM3759735;COSM1418855 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.392 0.132 N 1 0.090 P 0 0.065 N 1.63 0.280 T 1.33 0.009 N 0.016 0.012 -0.991 0.323 T 0.000 0.000 T . . . -2.184 0.006 0.001 0.249 0.011 0.016 0.052 N c -1.500 -1.374 0.989 0.318 0.672 0.522 0 0.907 0.184 0.096 0.149 -0.451 0.056 0.014 0.188 0.005 0.090 2.019 0.033 . ENSG00000242551.2 Prostate 0.4053 0.6804 0.2871 0.5145 0.5082 0.3250 0.3858 0.4044 0.4348 0.4623 0.6788 0.3258 0.5132 0.5167 0.3306 0.3741 0.3642 het 470.30 30 3 129293256 . T C 470.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DP=30;Dels=0.00;FS=1.477;HRun=0;HaplotypeScore=2.7523;MQ=60.00;MQ0=0;MQRankSum=-0.868;QD=15.68;ReadPosRankSum=1.122;VQSLOD=5.8163;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,18:30:99:500,0,343 3 129297223 129297223 C G exonic PLXND1 synonymous SNV PLXND1:NM_015103:exon9:c.G2295C:p.T765T 0.23 0.16 0.2 0.41 0.22 0.18 0.2579 0.1981 0.2933 0.4243 0.2852 0.2482 0.3166 0.2111 0.18 0.16 0.19 0.12 0.16 rs1110168 COSM3759737;COSM3759736 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2028 0.1600 0.1760 0.2472 0.3903 0.1809 0.1953 0.2047 0.1761 0.1894 0.1563 0.1778 0.2517 0.4080 0.1857 0.1855 0.1847 het 112.40 10 3 129297223 . C G 112.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.676;DP=10;Dels=0.00;FS=2.808;HRun=1;HaplotypeScore=1.9985;MQ=60.00;MQ0=0;MQRankSum=-1.098;QD=11.24;ReadPosRankSum=1.668;VQSLOD=4.8554;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:71.47:142,0,71 3 129695954 129695954 T C exonic TRH synonymous SNV TRH:NM_007117:exon3:c.T624C:p.L208L 0.96 0.86 0.97 1. 1. 1. 0.9870 0.8643 0.9924 1 1 0.9990 0.9917 0.9998 0.95 0.86 1. 0.94 0.7 rs5662 . . Benign not_specified RCV000243771.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9886 0.8609 0.9926 0.9931 1 1 0.9992 0.9911 1.0000 0.9633 0.8724 0.9880 0.9934 1 1 0.9995 0.9949 hom 1289.23 45 3 129695954 . T C 1289.23 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.65;VQSLOD=13.4800;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1322,102,0 3 129696041 129696041 A G exonic TRH synonymous SNV TRH:NM_007117:exon3:c.A711G:p.R237R 0.96 0.86 0.97 1. 1. 1. 0.9867 0.8646 0.9924 1 1 0.9991 0.9921 0.9998 0.95 0.86 1. 0.95 0.82 rs5663 . . Benign not_specified RCV000246913.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9870 0.8600 0.9923 0.9918 1 1 0.9993 0.9924 0.9999 0.9633 0.8725 0.9881 0.9934 1 1 0.9995 0.9949 hom 1031.49 31 3 129696041 . A G 1031.49 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.25;MQ0=0;QD=33.27;VQSLOD=9.7784;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:84.26:1064,84,0 3 130162395 130162395 A G exonic COL6A5 nonsynonymous SNV COL6A5:NM_001278298:exon36:c.A6563G:p.Q2188R,COL6A5:NM_153264:exon36:c.A6563G:p.Q2188R 0.85 0.74 0.9 0.85 0.95 0.88 0.9144 0.7835 0.9072 0.8459 0.9784 0.9459 0.9319 0.8787 0.9 0.78 0.95 0.79 . rs9883988 . . . . . . . . . . . . . 0.838 0.028 T 0.0 0.026 B 0.0 0.040 B 0.490 0.050 N 1 0.090 P 0 0.065 N -0.94 0.753 T 0.42 0.112 N 0.014 0.218 -0.965 0.382 T 0.000 0.000 T . . . -1.813 0.011 0.002 0.263 0.013 0.014 0.048 N c -1.773 -1.842 0.038 0.143 0.487 0.133 0 -6.31 0.018 -0.956 0.039 -0.688 0.038 0.000 0.063 0.000 0.016 0.575 0.006 . . . 0.9163 0.7852 0.9081 0.9012 0.8383 0.9791 0.9476 0.9160 0.8799 0.8963 0.7749 0.9033 0.9172 0.8161 0.9785 0.9516 0.9520 hom 2177.24 73 3 130162395 . A G 2177.24 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.17;MQ0=0;QD=29.83;VQSLOD=8.8845;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2210,175,0 3 130174334 130174334 G A exonic COL6A5 nonsynonymous SNV COL6A5:NM_001278298:exon37:c.G6614A:p.G2205D,COL6A5:NM_153264:exon37:c.G6614A:p.G2205D 0.9 0.83 0.9 0.96 0.94 0.91 0.9319 0.8574 0.9105 0.9460 0.9813 0.9465 0.9420 0.9045 0.92 0.86 0.95 0.87 . rs819085 . . . . . . . . . . . . . 0.518 0.094 T 0.0 0.112 B 0.0 0.133 B 0.185 0.170 N 1 0.090 P 0 0.065 N -0.85 0.744 T 1.52 0.009 N 0.057 0.479 -0.985 0.339 T 0.000 0.000 T . . . 0.038 0.097 2.959 0.336 0.020 0.001 0.004 N c -1.251 -1.228 0.000 0.055 0.487 0.133 0 1.81 0.240 1.123 0.307 -0.296 0.082 0.025 0.199 0.000 0.016 1.375 0.021 . . . 0.9325 0.8578 0.9108 0.9070 0.9434 0.9832 0.9483 0.9271 0.9024 0.9243 0.8473 0.9103 0.9305 0.9248 0.9845 0.9538 0.9542 hom 456.46 19 3 130174334 . G A 456.46 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.95;MQ0=0;QD=24.02;VQSLOD=8.0357;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:36.12:489,36,0 3 130187817 130187817 T C exonic COL6A5 synonymous SNV COL6A5:NM_001278298:exon38:c.T6969C:p.I2323I,COL6A5:NM_153264:exon38:c.T6969C:p.I2323I 0.89 0.83 0.91 0.89 0.91 0.94 0.9095 0.8389 0.9421 0.8958 0.9214 0.9098 0.8935 0.9309 0.89 0.85 0.91 0.86 . rs322113 COSM4157262;COSM4157264;COSM4157263 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9100 0.8413 0.9352 0.8464 0.8901 0.9184 0.9137 0.9027 0.9300 0.8959 0.8408 0.9378 0.8377 0.8878 0.9130 0.9217 0.9246 hom 1533.69 52 3 130187817 . T C 1533.69 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.29;MQ0=0;QD=29.49;VQSLOD=8.4093;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1567,126,0 3 130284284 130284284 G A exonic COL6A6 nonsynonymous SNV COL6A6:NM_001102608:exon3:c.G1108A:p.A370T 0.52 0.14 0.75 0.44 0.82 0.64 0.7424 0.2406 0.8070 0.4464 0.8546 0.8466 0.7650 0.6816 0.66 0.29 0.84 0.37 . rs9830253 COSM4002456;COSM4002455 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.046 0.405 D 0.998 0.715 D 0.886 0.611 P 0.001 0.426 D 0.026 0.390 P 2.72 0.798 M -1.36 0.801 T -1.98 0.457 N 0.2 0.245 -0.903 0.477 T 0.000 0.000 T . . . 5.050 0.680 25.2 0.998 0.895 0.823 0.412 D c 0.386 0.266 0.186 0.179 0.526 0.212 0 4.08 0.467 1.799 0.382 0.953 0.551 0.176 0.238 0.254 0.228 8.037 0.295 von Willebrand factor\x2c type A . . 0.7536 0.2368 0.8053 0.8299 0.4359 0.8567 0.8474 0.7815 0.6881 0.6606 0.2490 0.7637 0.82 0.4424 0.8515 0.8590 0.8194 hom 5830 181 3 130284284 . G A 5830 Mask AC=2;AF=1.00;AN=2;DP=181;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9374;MQ=59.87;MQ0=0;QD=32.21;VQSLOD=8.9637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:181:99:5829,496,0 3 130300650 130300650 T C exonic COL6A6 synonymous SNV COL6A6:NM_001102608:exon8:c.T3793C:p.L1265L 0.58 0.29 0.78 0.44 0.86 0.66 0.7821 0.3810 0.8372 0.4301 0.8769 0.8855 0.8096 0.7075 0.73 0.42 0.88 0.47 . rs6439249 COSM4002460;COSM4002459 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7900 0.3786 0.8325 0.8522 0.4210 0.8788 0.8869 0.8236 0.7125 0.7207 0.3897 0.8043 0.8444 0.4211 0.8751 0.8935 0.8460 hom 5135.46 153 3 130300650 . T C 5135.46 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=33.57;VQSLOD=9.8774;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5135,394,0 3 130718472 130718472 G A exonic ATP2C1 synonymous SNV ATP2C1:NM_001199182:exon25:c.G2583A:p.K861K,ATP2C1:NM_001001486:exon26:c.G2598A:p.K866K,ATP2C1:NM_001001487:exon26:c.G2598A:p.K866K,ATP2C1:NM_001199180:exon26:c.G2700A:p.K900K,ATP2C1:NM_001199181:exon26:c.G2700A:p.K900K,ATP2C1:NM_001199183:exon26:c.G2550A:p.K850K,ATP2C1:NM_001199184:exon26:c.G2550A:p.K850K,ATP2C1:NM_001199185:exon26:c.G2598A:p.K866K,ATP2C1:NM_014382:exon26:c.G2598A:p.K866K,ATP2C1:NM_001001485:exon27:c.G2598A:p.K866K,ATP2C1:NM_001199179:exon27:c.G2598A:p.K866K 0.11 0.0045 0.15 0.16 0.15 0.16 0.1558 0.0301 0.1626 0.1841 0.2207 0.1671 0.1667 0.1429 0.11 0.03 0.16 0.065 0.098 rs16835513 COSM3759755;COSM3759754 1(large_intestine) Benign|Benign Familial_benign_pemphigus|not_specified RCV000335287.1|RCV000445330.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0085106:169600:ORPHA2841:79468000|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1579 0.0298 0.1619 0.0909 0.1803 0.2249 0.1670 0.1571 0.1447 0.1402 0.0314 0.1396 0.0894 0.1636 0.2187 0.1808 0.1878 het 614.42 75 3 130718472 . G A 614.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.685;DP=75;Dels=0.00;FS=2.201;HRun=2;HaplotypeScore=0.9894;MQ=59.08;MQ0=0;MQRankSum=-2.455;QD=8.19;ReadPosRankSum=0.952;VQSLOD=3.4136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,26:75:99:644,0,1361 3 130947435 130947435 A T exonic NEK11 nonsynonymous SNV NEK11:NM_001321222:exon11:c.A1148T:p.E383V,NEK11:NM_001321224:exon12:c.A911T:p.E304V,NEK11:NM_001146003:exon14:c.A1463T:p.E488V,NEK11:NM_001321220:exon14:c.A1463T:p.E488V,NEK11:NM_024800:exon15:c.A1463T:p.E488V,NEK11:NM_001321221:exon16:c.A1589T:p.E530V 0.49 0.18 0.59 0.41 0.7 0.72 0.6455 0.2503 0.6197 0.3902 0.6986 0.7144 0.6751 0.7444 0.56 0.26 0.71 0.43 0.61 rs3738000 COSM4002464 2(breast);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.056 0.430 T 1.0 0.899 D 0.998 0.916 D 0.066 0.219 N 0.004 0.429 P 2.045 0.562 M -0.91 0.760 T -2.89 0.606 D 0.184 0.531 -0.868 0.507 T 0.000 0.000 T . . . 5.796 0.793 27.1 0.993 0.602 0.843 0.431 D c 0.577 0.546 0.997 0.349 0.554 0.246 0 5.67 0.876 5.099 0.642 1.088 0.866 1.000 0.715 0.995 0.604 13.427 0.603 . ENSG00000114670.9|ENSG00000114670.9 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.6503 0.2471 0.6268 0.7248 0.3871 0.6978 0.7116 0.6662 0.7411 0.5544 0.2514 0.6292 0.7053 0.3696 0.6878 0.7052 0.6592 het 2000.59 153 3 130947435 . A T 2000.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.812;DP=153;Dels=0.00;FS=2.164;HRun=0;HaplotypeScore=2.4304;MQ=58.79;MQ0=0;MQRankSum=0.949;QD=13.08;ReadPosRankSum=-0.647;VQSLOD=6.0812;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,78:153:99:2031,0,2029 3 130992385 130992385 T C exonic NEK11 nonsynonymous SNV NEK11:NM_001321222:exon13:c.T1370C:p.V457A,NEK11:NM_001321224:exon14:c.T1133C:p.V378A,NEK11:NM_001321220:exon16:c.T1685C:p.V562A,NEK11:NM_024800:exon17:c.T1685C:p.V562A,NEK11:NM_001321221:exon18:c.T1811C:p.V604A 0.19 0.31 0.18 0.28 0.054 0.067 0.1065 0.2846 0.1580 0.3115 0.0387 0.0590 0.0817 0.0715 0.13 0.27 0.06 0.17 0.074 rs16836266 . . . . . . . . . . . . . 0.612 0.064 T 0.0 0.026 B 0.001 0.040 B 0.260 0.153 N 1 0.090 P -1.78 0.003 N -0.42 0.695 T 0.22 0.047 N 0.018 0.012 -1.041 0.171 T 0.000 0.000 T . . . -1.370 0.020 0.004 0.603 0.063 0.008 0.031 N c -1.521 -1.422 0.000 0.029 0.657 0.484 0 1.66 0.230 0.406 0.206 -2.696 0.002 0.000 0.063 0.000 0.016 12.175 0.533 . . . 0.1045 0.2898 0.1567 0.0642 0.3061 0.0373 0.0586 0.0987 0.0715 0.1394 0.2820 0.1483 0.0795 0.3298 0.0389 0.0638 0.0878 het 2064.40 159 3 130992385 . T C 2064.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.567;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9528;MQ=59.50;MQ0=0;MQRankSum=-0.111;QD=12.98;ReadPosRankSum=-0.584;VQSLOD=6.5219;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,80:159:99:2094,0,1887 3 131068497 131068497 C T exonic NEK11 nonsynonymous SNV NEK11:NM_001146003:exon16:c.C1718T:p.A573V 0.033 0.0015 0.016 0.096 0.016 0.04 0.0251 0.0056 0.0095 0.0886 0.0163 0.0207 0.0220 0.0368 0.016 0.0048 0.022 0.011 0.0082 rs12637848 COSM4002465 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.056 0.381 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 N . . . -0.49 0.704 T -0.46 0.150 N . . -1.098 0.043 T 0.008 0.028 T . . . 1.288 0.219 12.21 0.950 0.255 0.069 0.128 N c -1.046 -1.094 1.000 0.407 0.539 0.216 0 -0.536 0.112 0.583 0.234 0.022 0.145 0.015 0.189 0.187 0.214 8.640 0.330 . . . 0.0249 0.0059 0.0099 0.0185 0.0853 0.0162 0.0218 0.0233 0.0368 0.0210 0.0065 0.0143 0.0199 0.0920 0.0152 0.0231 0.0286 het 1487.10 118 3 131068497 . C T 1487.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.276;DP=118;Dels=0.00;FS=1.502;HRun=0;HaplotypeScore=8.8110;MQ=58.88;MQ0=0;MQRankSum=1.095;QD=12.60;ReadPosRankSum=0.713;VQSLOD=4.3563;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,56:118:99:1517,0,1577 3 131068509 131068509 A G exonic NEK11 nonsynonymous SNV NEK11:NM_001146003:exon16:c.A1730G:p.K577R 0.033 0.0015 0.016 0.096 0.016 0.04 0.0252 0.0065 0.0095 0.0887 0.0163 0.0206 0.0220 0.0368 0.017 0.0061 0.022 0.011 0.0082 rs12632399 COSM4002466 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.318 0.136 T 0.003 0.102 B 0.004 0.093 B . . . 1 0.244 N . . . -0.48 0.703 T -0.43 0.144 N . . -1.048 0.151 T 0.009 0.034 T . . . -0.721 0.044 0.064 0.966 0.298 0.051 0.108 N c -1.137 -1.204 1.000 0.489 0.601 0.348 0 -4.61 0.031 -0.259 0.087 -0.399 0.062 0.316 0.252 0.214 0.220 17.047 0.863 . . . 0.0249 0.0065 0.0100 0.0185 0.0853 0.0162 0.0217 0.0233 0.0368 0.0211 0.0066 0.0144 0.0199 0.0920 0.0155 0.0230 0.0285 het 1620.15 116 3 131068509 . A G 1620.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.314;DP=116;Dels=0.00;FS=1.484;HRun=0;HaplotypeScore=4.0608;MQ=59.02;MQ0=0;MQRankSum=0.790;QD=13.97;ReadPosRankSum=0.806;VQSLOD=6.0836;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,57:116:99:1650,0,1686 3 131100956 131100956 C G exonic NUDT16 nonsynonymous SNV NUDT16:NM_001171905:exon2:c.C67G:p.L23V,NUDT16:NM_001171906:exon2:c.C205G:p.L69V,NUDT16:NM_152395:exon2:c.C205G:p.L69V 0.0036 0.0008 0.0086 . 0.008 0.0031 0.0077 0.0020 0.0042 0 0.0079 0.0111 0.0071 0.0043 0.0078 0.0023 0.011 0.011 . rs150437674 . . . . . . . . . . . . . 0.074 0.377 T 1.0 0.899 D 0.997 0.850 D 0.001 0.404 N 0.992 0.441 D 1.805 0.477 L 3.12 0.197 T -2.23 0.524 N 0.124 0.152 -1.124 0.021 T 0.058 0.244 T . . . 5.167 0.697 25.5 0.997 0.774 0.792 0.389 D c 0.232 0.147 1.000 0.747 0.733 0.969 0 1.8 0.240 1.852 0.388 0.870 0.379 0.998 0.411 0.963 0.446 7.342 0.257 NUDIX hydrolase domain|NUDIX hydrolase domain-like . . 0.0080 0.0022 0.0049 0.0152 0 0.0096 0.0111 0.0073 0.0043 0.0084 0.0023 0.0024 0.0166 0 0.0083 0.0129 0.0112 het 974.77 97 3 131100956 . C G 974.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.737;DP=97;Dels=0.00;FS=2.800;HRun=0;HaplotypeScore=2.3609;MQ=59.38;MQ0=0;MQRankSum=0.008;QD=10.05;ReadPosRankSum=0.518;VQSLOD=4.7853;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,43:97:99:1005,0,1411 3 132068831 132068831 C T exonic ACPP synonymous SNV ACPP:NM_001292037:exon7:c.C750T:p.L250L,ACPP:NM_001099:exon8:c.C849T:p.L283L,ACPP:NM_001134194:exon8:c.C849T:p.L283L 0.4 0.36 0.48 0.12 0.54 0.52 0.4712 0.3744 0.4016 0.1100 0.3741 0.5386 0.4625 0.5371 0.5 0.39 0.56 0.34 0.46 rs2228402 COSM3759758;COSM3759759 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4725 0.3719 0.4147 0.5503 0.1124 0.3733 0.5535 0.4912 0.5370 0.4635 0.3899 0.4177 0.5728 0.1105 0.3767 0.5639 0.4796 hom 3233.06 111 3 132068831 . C T 3233.06 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8273;MQ=58.48;MQ0=0;QD=29.13;VQSLOD=8.0258;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3266,253,0 3 132075554 132075554 T C exonic ACPP synonymous SNV ACPP:NM_001292037:exon9:c.T894C:p.Y298Y,ACPP:NM_001099:exon10:c.T993C:p.Y331Y,ACPP:NM_001134194:exon10:c.T993C:p.Y331Y 0.3 0.32 0.38 0.08 0.38 0.38 0.3390 0.3226 0.3172 0.0762 0.2700 0.3782 0.3260 0.3720 0.36 0.32 0.38 0.27 0.4 rs3181784 COSM1130341;COSM1130342 1(breast);2(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3416 0.3174 0.3267 0.4565 0.0771 0.2643 0.3865 0.3595 0.3712 0.3394 0.3290 0.3115 0.4735 0.0667 0.2731 0.3888 0.3459 hom 7206.07 202 3 132075554 . T C 7206.07 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8096;MQ=58.32;MQ0=0;QD=35.67;VQSLOD=8.1123;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:7205,578,0 3 132075707 132075707 A G exonic ACPP synonymous SNV ACPP:NM_001292037:exon9:c.A1047G:p.E349E,ACPP:NM_001099:exon10:c.A1146G:p.E382E 0.4 0.36 0.48 0.12 0.54 0.52 0.4718 0.3755 0.4006 0.1114 0.3747 0.5393 0.4647 0.5374 0.5 0.39 0.56 0.35 0.52 rs2071505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4731 0.3730 0.4153 0.5504 0.1138 0.3746 0.5542 0.4909 0.5373 0.4637 0.3901 0.4211 0.5728 0.1114 0.3769 0.5638 0.4816 hom 4927.99 147 3 132075707 . A G 4927.99 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=58.97;MQ0=0;QD=33.52;VQSLOD=9.8015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4928,382,0 3 132218621 132218621 G A exonic DNAJC13 nonsynonymous SNV DNAJC13:NM_015268:exon38:c.G4385A:p.R1462H,DNAJC13:NM_001329126:exon39:c.G4400A:p.R1467H 0.0056 0.0023 0.0029 . 0.011 0.012 0.0091 0.0014 0.0029 0 0.0071 0.0110 0.0132 0.0161 0.0068 0.0005 0.01 . . rs61748103 . . . . . . . . . . . . . 0.159 0.238 T 0.0 0.026 B 0.0 0.013 B 0.000 0.452 D 0.708 0.335 D 0.46 0.130 N 2.25 0.178 T -0.96 0.255 N 0.125 0.141 -1.035 0.188 T 0.010 0.037 T . . . 3.600 0.490 23.2 0.846 0.149 0.916 0.537 D c -0.386 -0.189 0.707 0.228 0.707 0.730 0 3.37 0.375 2.826 0.476 0.953 0.551 1.000 0.715 0.996 0.625 6.941 0.235 Armadillo-type fold . . 0.0091 0.0014 0.0034 0.0072 0 0.0065 0.0115 0.0082 0.0178 0.0081 0.0010 0.0048 0.0232 0 0.0069 0.0131 0.0122 het 2997.42 208 3 132218621 . G A 2997.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.714;DP=208;DS;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=8.1012;MQ=59.57;MQ0=0;MQRankSum=0.621;QD=14.41;ReadPosRankSum=-1.303;VQSLOD=3.5781;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,108:208:99:3027,0,2527 3 132218623 132218623 G T exonic DNAJC13 nonsynonymous SNV DNAJC13:NM_015268:exon38:c.G4387T:p.A1463S,DNAJC13:NM_001329126:exon39:c.G4402T:p.A1468S 0.74 0.98 0.51 0.88 0.49 0.68 0.5693 0.9041 0.5145 0.9074 0.4890 0.4771 0.5650 0.6249 0.62 0.89 0.48 0.83 0.48 rs3762672 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.212 P -1.615 0.004 N 0.91 0.449 T 2.38 0.003 N 0.106 0.112 -0.949 0.411 T 0.000 0.000 T . . . 1.693 0.265 14.37 0.929 0.219 0.057 0.115 N c -0.820 -0.479 1.000 0.423 0.707 0.730 0 5.17 0.707 5.814 0.687 0.088 0.194 1.000 0.715 0.995 0.604 12.582 0.556 Armadillo-type fold ENSG00000138246.11|ENSG00000138246.11|ENSG00000113971.14|ENSG00000138246.11|ENSG00000138246.11 Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Testis|Whole_Blood 0.5574 0.9120 0.5200 0.4972 0.9056 0.4847 0.4701 0.5245 0.6215 0.6152 0.8950 0.5443 0.5066 0.9109 0.4702 0.4657 0.5327 het 2550.32 206 3 132218623 . G T 2550.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.202;DP=206;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1012;MQ=59.56;MQ0=0;MQRankSum=-0.972;QD=12.38;ReadPosRankSum=0.687;VQSLOD=4.2357;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,99:206:99:2580,0,3079 3 132360883 132360883 C T exonic ACAD11 nonsynonymous SNV ACAD11:NM_032169:exon4:c.G470A:p.R157H 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs821572 COSM4591401 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 5081.96 163 3 132360883 . C T 5081.96 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=31.18;VQSLOD=9.7703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5081,403,0 3 133099245 133099245 G A exonic TMEM108 synonymous SNV TMEM108:NM_001136469:exon4:c.G690A:p.P230P,TMEM108:NM_023943:exon4:c.G690A:p.P230P 0.38 0.26 0.49 0.39 0.45 0.39 0.4253 0.2905 0.5070 0.4249 0.4491 0.4339 0.4 0.4101 0.39 0.3 0.43 0.4 0.37 rs1197314 COSM4157279 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4306 0.2856 0.4911 0.4542 0.4257 0.4525 0.4326 0.4368 0.4073 0.3973 0.2905 0.4749 0.4567 0.4326 0.4300 0.4407 0.4252 hom 1899.99 59 3 133099245 . G A 1899.99 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.27;MQ0=0;QD=32.20;VQSLOD=8.9342;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1933,150,0 3 133167363 133167363 G A exonic BFSP2 synonymous SNV BFSP2:NM_003571:exon3:c.G603A:p.A201A 0.44 0.097 0.38 0.59 0.57 0.64 0.5441 0.1654 0.3347 0.5909 0.5459 0.6138 0.5542 0.6194 0.46 0.17 0.61 0.3 0.67 rs2276737 COSM4416821 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5399 0.1548 0.3484 0.5571 0.5955 0.5404 0.6178 0.5550 0.6185 0.4720 0.1718 0.3986 0.5563 0.6057 0.5329 0.6143 0.5644 hom 1821.41 59 3 133167363 . G A 1821.41 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.45;MQ0=0;QD=30.87;VQSLOD=8.4441;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1854,141,0 3 133329943 133329943 G A exonic TOPBP1 synonymous SNV TOPBP1:NM_007027:exon25:c.C4078T:p.L1360L 0.68 0.78 0.63 0.63 0.75 0.57 0.6905 0.7747 0.6423 0.5792 0.6451 0.7254 0.6682 0.6109 0.75 0.78 0.73 0.65 . rs1444601 COSM4002470 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6851 0.7817 0.6483 0.7096 0.5809 0.6339 0.7275 0.6881 0.6106 0.7131 0.7736 0.6842 0.6788 0.5854 0.6523 0.7102 0.6811 het 1160.18 110 3 133329943 . G A 1160.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.303;DP=110;Dels=0.00;FS=6.412;HRun=2;HaplotypeScore=1.6647;MQ=58.95;MQ0=0;MQRankSum=-0.210;QD=10.55;ReadPosRankSum=-0.333;VQSLOD=5.2370;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,44:110:99:1190,0,1967 3 133356790 133356790 G A exonic TOPBP1 nonsynonymous SNV TOPBP1:NM_007027:exon14:c.C2450T:p.S817L 0.081 0.068 0.12 0.001 0.18 0.048 0.1411 0.0738 0.0864 0.0002 0.1686 0.1948 0.1433 0.0646 0.16 0.073 0.19 0.12 . rs17301766 COSM3759766;COSM3759765 1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.372 0.323 B 0.044 0.230 B 0.003 0.350 N 0.001 0.456 P 2.745 0.805 M 2.02 0.211 T -2.5 0.543 D 0.058 0.041 -1.047 0.151 T 0.000 0.000 T . . . 3.906 0.526 23.5 0.997 0.827 0.989 0.882 D c 0.086 0.205 1.000 0.437 0.707 0.730 0 5.16 0.704 5.485 0.664 1.048 0.713 1.000 0.715 0.977 0.480 15.257 0.732 . ENSG00000242337.1 Esophagus_Mucosa 0.1408 0.0730 0.0938 0.1592 0.0005 0.1573 0.2004 0.1670 0.0656 0.1396 0.0739 0.1077 0.1490 0 0.1622 0.1883 0.1548 het 4102.65 242 3 133356790 . G A 4102.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.637;DP=242;Dels=0.00;FS=9.177;HRun=1;HaplotypeScore=8.5190;MQ=59.12;MQ0=0;MQRankSum=1.758;QD=16.95;ReadPosRankSum=-0.461;VQSLOD=3.3629;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,122:242:99:3439,0,3046 3 133362154 133362154 A G exonic TOPBP1 synonymous SNV TOPBP1:NM_007027:exon12:c.T1911C:p.V637V 0.081 0.068 0.12 0.001 0.18 0.048 0.1418 0.0753 0.0872 0.0002 0.1688 0.1955 0.1465 0.0650 0.16 0.077 0.2 0.12 . rs17301889 COSM3759767;COSM3759768 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1397 0.0728 0.0919 0.1602 0.0003 0.1568 0.1992 0.1653 0.0642 0.1401 0.0747 0.1074 0.1490 0 0.1616 0.1892 0.1534 het 953.72 74 3 133362154 . A G 953.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.706;DP=74;Dels=0.00;FS=11.275;HRun=2;HaplotypeScore=0.6651;MQ=59.69;MQ0=0;MQRankSum=1.556;QD=12.89;ReadPosRankSum=0.374;VQSLOD=4.0689;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,34:74:99:984,0,1109 3 133368362 133368362 T G exonic TOPBP1 nonsynonymous SNV TOPBP1:NM_007027:exon10:c.A1369C:p.K457Q 0.7 0.79 0.64 0.62 0.77 0.6 0.7159 0.7858 0.6512 0.5800 0.6662 0.7550 0.6989 0.6531 0.77 0.79 0.77 0.66 . rs3192149 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.045 0.236 N 1.000 0.090 P -1.265 0.007 N 2.75 0.116 T 0.89 0.016 N 0.023 0.006 -1.029 0.208 T 0.000 0.000 T . . . 1.150 0.205 11.48 0.153 0.004 0.041 0.095 N c -0.767 -0.472 0.141 0.173 0.719 0.830 0 4.84 0.620 2.532 0.451 0.133 0.217 0.994 0.380 0.873 0.365 15.345 0.739 . ENSG00000091513.10|ENSG00000091527.11 Nerve_Tibial|Whole_Blood 0.7104 0.7930 0.6564 0.7380 0.5809 0.6553 0.7596 0.7133 0.6536 0.7347 0.7850 0.6957 0.7119 0.5878 0.6737 0.7405 0.6976 het 2732.11 249 3 133368362 . T G 2732.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.728;DP=249;DS;Dels=0.00;FS=2.834;HRun=0;HaplotypeScore=4.6706;MQ=58.84;MQ0=1;MQRankSum=1.223;QD=10.97;ReadPosRankSum=-1.866;VQSLOD=4.9043;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:142,107:249:99:2762,0,3593 3 133475722 133475722 C T exonic TF synonymous SNV TF:NM_001063:exon7:c.C739T:p.L247L 0.14 0.05 0.14 0.22 0.14 0.19 0.1289 0.0628 0.1345 0.2651 0.1644 0.1127 0.1410 0.1462 0.085 0.064 0.096 0.076 0.074 rs1799852 COSM4002475 1(haematopoietic_and_lymphoid_tissue) Benign Atransferrinemia RCV000343557.1 MedGen:OMIM C1859593:209300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1308 0.0623 0.1316 0.1235 0.2687 0.1671 0.1069 0.1380 0.1482 0.1199 0.0604 0.1265 0.1391 0.2818 0.1641 0.1229 0.1670 het 2698.57 214 3 133475722 . C T 2698.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.626;DP=214;DS;Dels=0.00;FS=5.718;HRun=1;HaplotypeScore=8.1645;MQ=59.35;MQ0=0;MQRankSum=-0.147;QD=12.61;ReadPosRankSum=-1.659;VQSLOD=4.1336;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,103:214:99:2729,0,2997 3 133475812 133475812 G A exonic TF nonsynonymous SNV TF:NM_001063:exon7:c.G829A:p.G277S 0.031 0.0015 0.039 . 0.071 0.054 0.0532 0.0106 0.0250 0.0001 0.1429 0.0641 0.0782 0.0461 0.035 0.01 0.048 0.011 0.016 rs1799899 COSM3736306 1(breast);2(soft_tissue);1(skin) Uncertain significance|Likely benign Iron_deficiency_anemia|Atransferrinemia RCV000013457.4|RCV000308514.1 MedGen:SNOMED_CT|MedGen:OMIM C0162316:87522002|C1859593:209300 Alcohol consumption (transferrin glycosylation) . .40 21665994 rs1799899 1E-9 0.04 0.421 D 0.999 0.764 D 0.974 0.715 D 0.001 0.394 N 0.570 0.359 D 1.73 0.448 L 1.37 0.342 T -4.15 0.753 D 0.542 0.580 -0.994 0.316 T 0.014 0.056 T . . . 4.612 0.618 24.4 0.969 0.308 0.800 0.394 D c 0.423 0.358 1.000 0.747 0.549 0.223 0 4.58 0.559 3.278 0.511 0.998 0.613 1.000 0.715 0.613 0.291 13.114 0.585 Transferrin-like domain . . 0.0532 0.0094 0.0240 0.0599 5.798e-05 0.1459 0.0585 0.0596 0.0469 0.0580 0.0087 0.0239 0.0464 0 0.1354 0.0744 0.0982 het 2272.11 180 3 133475812 . G A 2272.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.017;DP=180;Dels=0.00;FS=4.443;HRun=0;HaplotypeScore=3.4485;MQ=59.45;MQ0=0;MQRankSum=0.855;QD=12.62;ReadPosRankSum=0.185;VQSLOD=5.8102;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:96,84:180:99:2302,0,2520 3 133485133 133485133 A G exonic TF nonsynonymous SNV TF:NM_001063:exon12:c.A1342G:p.I448V 0.99 1. 0.95 1. 1. 1. 0.9932 0.9988 0.9306 1 1 0.9999 0.9945 1 1. 1. 1. 0.99 0.95 rs2692696 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.203 P -3.045 0.000 N 2.05 0.207 T 0.9 0.016 N 0.236 0.290 -0.959 0.393 T 0.000 0.000 T . . . 0.035 0.097 2.925 0.766 0.111 0.186 0.201 N c -0.974 -0.657 1.000 0.747 0.516 0.203 0 4.87 0.627 7.480 0.800 0.138 0.222 1.000 0.715 0.864 0.361 12.755 0.565 Transferrin-like domain . . 0.9913 0.9988 0.9383 1 0.9999 1 1.0000 0.9925 1 0.9982 0.9986 0.9511 1 1 1 0.9999 0.9990 hom 8136.85 246 3 133485133 . A G 8136.85 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0477;MQ=59.81;MQ0=0;QD=33.08;VQSLOD=9.2053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,245:246:99:8136,626,0 3 133524717 133524717 G C exonic SRPRB nonsynonymous SNV SRPRB:NM_021203:exon2:c.G25C:p.V9L 0.17 0.083 0.24 0.23 0.2 0.16 0.2186 0.1073 0.2004 0.2194 0.1834 0.2527 0.2331 0.1727 0.2 0.11 0.25 0.22 0.27 rs1107413 COSM3759772 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.204 0.200 T 0.0 0.026 B 0.0 0.013 B 0.060 0.021 U 1 0.090 P 0.35 0.120 N 2.54 0.475 T -0.63 0.185 N 0.047 0.275 -1.061 0.115 T 0.000 0.000 T . . . 0.657 0.157 8.545 0.711 0.092 0.068 0.127 N c -0.937 -0.969 1.000 0.747 0.442 0.072 0 0.767 0.176 -0.145 0.102 0.135 0.219 0.000 0.063 0.006 0.095 6.681 0.222 . . . 0.2182 0.1042 0.2091 0.3010 0.2146 0.1857 0.2515 0.2384 0.1617 0.1973 0.1151 0.1981 0.3311 0.2238 0.1832 0.2414 0.2189 het 1241.22 102 3 133524717 . G C 1241.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.202;DP=102;Dels=0.00;FS=2.742;HRun=0;HaplotypeScore=3.4624;MQ=58.37;MQ0=0;MQRankSum=2.001;QD=12.17;ReadPosRankSum=1.329;VQSLOD=4.3356;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,47:102:99:1271,0,1454 3 134077470 134077470 C G exonic AMOTL2 nonsynonymous SNV AMOTL2:NM_001278683:exon9:c.G2367C:p.E789D,AMOTL2:NM_001278685:exon9:c.G2187C:p.E729D,AMOTL2:NM_016201:exon9:c.G2196C:p.E732D 0.81 0.94 0.72 0.92 0.61 0.79 0.7111 0.8914 0.7309 0.9218 0.6071 0.6523 0.6589 0.7547 0.73 0.87 0.66 0.77 0.53 rs1353776 COSM4407384 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1 0.090 P -1.1 0.010 N 2.6 0.142 T 1.47 0.008 N 0.012 0.002 -0.860 0.513 T 0.000 0.000 T . . . -2.157 0.006 0.001 0.590 0.060 0.019 0.058 N c -2.458 -2.459 1.0 0.983 0.722 0.854 0 -11.0 0.001 -2.777 0.008 -1.407 0.012 0.000 0.063 0.007 0.100 9.742 0.394 . ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000214289.2|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1|ENSG00000260633.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Uterus 0.7058 0.8938 0.7266 0.6498 0.9223 0.6156 0.6529 0.6801 0.7471 0.7388 0.8820 0.7100 0.7351 0.9183 0.6140 0.6680 0.7193 hom 1748.62 64 3 134077470 . C G 1748.62 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.71;MQ0=0;QD=27.32;VQSLOD=6.5558;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:64:99:1782,153,0 3 134278270 134278270 C T exonic CEP63 nonsynonymous SNV CEP63:NM_025180:exon15:c.C1952T:p.S651L 0.33 0.022 0.53 0.6 0.37 0.27 0.3590 0.0781 0.5788 0.6171 0.3693 0.3512 0.3744 0.2690 0.27 0.091 0.36 0.21 0.39 rs1127826 . . Benign not_specified RCV000116680.1 MedGen CN169374 . . . . . . 0.328 0.132 T 0.001 0.067 B 0.002 0.063 B 0.894 0.087 N 0.000 0.588 P 0.675 0.164 N 2.24 0.179 T 0.5 0.030 N 0.029 0.010 -0.944 0.420 T 0.000 0.000 T . . . 2.644 0.379 20.5 0.894 0.182 0.170 0.194 N c -0.768 -0.685 0.008 0.115 0.651 0.465 0 -2.93 0.052 0.279 0.184 0.070 0.177 0.995 0.385 0.999 0.750 6.749 0.225 . ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000182923.12|ENSG00000129055.8|ENSG00000182923.12|ENSG00000129055.8|ENSG00000129055.8|ENSG00000129055.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.3725 0.0726 0.5581 0.3204 0.6192 0.3764 0.3519 0.3822 0.2685 0.3029 0.0828 0.5060 0.2980 0.6132 0.3834 0.3642 0.3554 het 831.29 75 3 134278270 . C T 831.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.911;DP=75;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.35;MQ0=0;MQRankSum=-0.367;QD=11.08;ReadPosRankSum=-0.059;VQSLOD=6.1145;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,34:75:99:861,0,1040 3 134322742 134322742 A G exonic KY synonymous SNV KY:NM_001350859:exon10:c.T1617C:p.L539L,KY:NM_178554:exon11:c.T1665C:p.L555L 0.68 0.53 0.75 0.88 0.67 0.65 0.6720 0.5483 0.8343 0.8859 0.7201 0.6465 0.6562 0.6044 0.61 0.56 0.64 0.51 . rs2293293 COSM4157289;COSM4157290 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6802 0.5385 0.8200 0.6049 0.8837 0.7309 0.6434 0.6800 0.6052 0.6454 0.5414 0.7931 0.6033 0.9063 0.7218 0.6504 0.6745 het 1401.42 120 3 134322742 . A G 1401.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.893;DP=120;Dels=0.00;FS=4.587;HRun=0;HaplotypeScore=7.1709;MQ=59.32;MQ0=0;MQRankSum=1.405;QD=11.68;ReadPosRankSum=-0.969;VQSLOD=4.5153;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,58:120:99:1431,0,1744 3 134322814 134322814 G C exonic KY synonymous SNV KY:NM_001350859:exon10:c.C1545G:p.G515G,KY:NM_178554:exon11:c.C1593G:p.G531G 0.3 0.41 0.23 0.11 0.33 0.34 0.3221 0.4029 0.1612 0.1126 0.2804 0.3527 0.3426 0.3886 0.37 0.38 0.36 0.41 . rs2293294 COSM4157291;COSM149478 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3142 0.4120 0.1759 0.3923 0.1148 0.2694 0.3552 0.3143 0.3872 0.3406 0.4117 0.2010 0.3940 0.0927 0.2776 0.3488 0.3198 het 1776.28 159 3 134322814 . G C 1776.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.330;DP=159;Dels=0.00;FS=4.753;HRun=2;HaplotypeScore=5.5880;MQ=58.23;MQ0=0;MQRankSum=1.479;QD=11.17;ReadPosRankSum=0.798;VQSLOD=3.9481;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,73:159:99:1806,0,2325 3 134323156 134323156 A G exonic KY synonymous SNV KY:NM_001350859:exon10:c.T1203C:p.F401F,KY:NM_178554:exon11:c.T1251C:p.F417F 1. 0.99 1. 1. 1. 1. 0.9989 0.9885 0.9990 1 1 1.0000 1 1 1. 0.99 1. 1. . rs4955535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9992 0.9890 0.9994 1 1 1 1.0000 0.9995 0.9999 0.9971 0.9898 1 1 1 1 1 0.9990 hom 4188.95 138 3 134323156 . A G 4188.95 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5107;MQ=59.67;MQ0=0;QD=30.35;VQSLOD=8.1419;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4188,355,0 3 135720851 135720851 G T exonic PPP2R3A nonsynonymous SNV PPP2R3A:NM_002718:exon2:c.G511T:p.A171S 0.35 0.55 0.28 0.2 0.28 0.33 0.2979 0.5219 0.3081 0.2045 0.3194 0.2686 0.2797 0.3098 0.35 0.51 0.27 0.38 0.17 rs6779903 COSM3759782 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.799 0.031 T 0.0 0.026 B 0.0 0.013 B 0.027 0.258 N 1 0.090 P -1.355 0.007 N 3.47 0.052 T 0.31 0.040 N 0.033 0.013 -1.021 0.233 T 0.000 0.000 T . . . -2.679 0.002 0.001 0.280 0.014 0.039 0.092 N c -1.400 -1.245 0.063 0.153 0.615 0.372 0 0.066 0.136 1.055 0.299 -0.221 0.097 0.626 0.277 0.624 0.293 8.527 0.323 . . . 0.2934 0.5243 0.3028 0.2698 0.2044 0.3159 0.2671 0.2840 0.3068 0.3469 0.5168 0.2745 0.2748 0.2011 0.3049 0.2797 0.3381 het 322.55 59 3 135720851 . G T 322.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.021;DP=59;Dels=0.00;FS=4.534;HRun=0;HaplotypeScore=0.9665;MQ=59.61;MQ0=0;MQRankSum=-0.151;QD=5.47;ReadPosRankSum=0.169;VQSLOD=4.1898;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,16:59:99:353,0,1042 3 136573440 136573440 A G exonic SLC35G2 synonymous SNV SLC35G2:NM_001097599:exon2:c.A138G:p.G46G,SLC35G2:NM_001097600:exon2:c.A138G:p.G46G,SLC35G2:NM_025246:exon2:c.A138G:p.G46G 0.7 0.57 0.77 0.85 0.66 0.74 0.7135 0.6157 0.7749 0.8645 0.6810 0.6943 0.6949 0.7437 0.67 0.61 0.7 0.61 0.62 rs9827648 COSM4157300 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7170 0.6144 0.7798 0.6921 0.8644 0.6767 0.6933 0.7142 0.7412 0.6810 0.6137 0.7673 0.6623 0.8773 0.6901 0.6914 0.6963 het 2255.64 162 3 136573440 . A G 2255.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.451;DP=162;DS;Dels=0.00;FS=4.831;HRun=2;HaplotypeScore=0.9979;MQ=59.59;MQ0=0;MQRankSum=-0.073;QD=13.92;ReadPosRankSum=-0.592;VQSLOD=5.9266;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,87:162:99:2286,0,1925 3 136574501 136574501 A G exonic SLC35G2 nonsynonymous SNV SLC35G2:NM_001097599:exon2:c.A1199G:p.K400R,SLC35G2:NM_001097600:exon2:c.A1199G:p.K400R,SLC35G2:NM_025246:exon2:c.A1199G:p.K400R 0.71 0.6 0.77 0.85 0.66 0.74 0.7150 0.6290 0.7759 0.8643 0.6860 0.6944 0.6991 0.7439 0.67 0.63 0.7 0.64 0.69 rs1052618 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P -0.695 0.019 N 2.15 0.193 T -0.02 0.073 N 0.033 0.013 -0.980 0.350 T 0.000 0.000 T . . . 0.520 0.144 7.586 0.889 0.178 0.128 0.173 N c -0.612 -0.301 1.000 0.747 0.732 0.924 0 5.79 0.917 5.503 0.665 0.104 0.200 1.000 0.715 0.966 0.452 13.854 0.629 . ENSG00000239213.1|ENSG00000273486.1|ENSG00000239213.1|ENSG00000273486.1|ENSG00000273486.1|ENSG00000273486.1|ENSG00000239213.1|ENSG00000239213.1|ENSG00000168917.8|ENSG00000239213.1|ENSG00000239213.1|ENSG00000239213.1|ENSG00000273486.1|ENSG00000239213.1|ENSG00000174564.8|ENSG00000239213.1|ENSG00000168917.8|ENSG00000239213.1|ENSG00000273486.1 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Stomach|Testis|Testis|Thyroid 0.7187 0.6289 0.7810 0.6919 0.8644 0.6806 0.6937 0.7148 0.7414 0.6856 0.6270 0.7685 0.6667 0.8766 0.6948 0.6918 0.6990 het 1658.23 131 3 136574501 . A G 1658.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.279;DP=131;Dels=0.00;FS=2.301;HRun=1;HaplotypeScore=2.6953;MQ=57.53;MQ0=0;MQRankSum=-0.805;QD=12.66;ReadPosRankSum=-0.565;VQSLOD=4.6082;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,61:131:99:1688,0,1908 3 137786442 137786442 T C exonic DZIP1L nonsynonymous SNV DZIP1L:NM_173543:exon14:c.A1933G:p.K645E 0.55 0.26 0.69 0.61 0.69 0.65 0.6457 0.3536 0.6147 0.6472 0.6197 0.6977 0.6463 0.6508 0.59 0.36 0.71 0.46 0.57 rs442800 COSM5886271 1(skin) . . . . . . . . . . . 0.773 0.033 T 0.0 0.026 B 0.0 0.013 B 0.922 0.075 N 1 0.090 P -1.5 0.005 N 0.97 0.425 T -0.81 0.223 N 0.013 0.245 -0.997 0.308 T 0.000 0.000 T . . . -1.360 0.020 0.004 0.151 0.004 0.001 0.005 N c -1.033 -1.073 0.999 0.373 0.615 0.372 0 1.64 0.228 -0.051 0.117 -2.088 0.004 0.000 0.063 0.000 0.016 5.710 0.171 . ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.6518 0.3480 0.6286 0.7375 0.6503 0.6118 0.7004 0.6693 0.6507 0.5844 0.3558 0.6566 0.7649 0.6522 0.6084 0.6924 0.6548 het 1059.01 109 3 137786442 . T C 1059.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.391;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5566;MQ=59.66;MQ0=0;MQRankSum=-1.260;QD=9.72;ReadPosRankSum=0.473;VQSLOD=4.3713;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,48:109:99:1089,0,1650 3 137787047 137787047 C T exonic DZIP1L nonsynonymous SNV DZIP1L:NM_173543:exon13:c.G1778A:p.R593H 0.63 0.31 0.78 0.63 0.86 0.72 0.7718 0.4295 0.6751 0.6583 0.7505 0.8649 0.8116 0.7424 0.72 0.44 0.87 0.56 0.7 rs374045 COSM1566241 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);2(thyroid) . . . . . . . . . . . 0.021 0.491 D 0.033 0.190 B 0.007 0.121 B 0.593 0.110 N 1 0.090 P 1.825 0.480 L 1.12 0.387 T -2.15 0.486 N 0.031 0.012 -1.022 0.229 T 0.000 0.000 T . . . 1.816 0.279 15.08 0.959 0.276 0.061 0.120 N c -0.851 -0.888 1.000 0.489 0.776 0.995 0 2.16 0.265 -0.005 0.127 -0.372 0.066 0.004 0.165 0.007 0.100 6.686 0.222 . ENSG00000158163.10|ENSG00000158163.10 Artery_Tibial|Colon_Transverse 0.7715 0.4199 0.6940 0.8809 0.6586 0.7421 0.8653 0.8048 0.7325 0.7077 0.4262 0.7303 0.8808 0.6613 0.7453 0.8560 0.8082 hom 1434.42 60 3 137787047 . C T 1434.42 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.670;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.06;MQ0=0;MQRankSum=-0.247;QD=23.91;ReadPosRankSum=0.804;VQSLOD=6.3891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,56:60:99:1467,129,0 3 137787192 137787192 T C exonic DZIP1L nonsynonymous SNV DZIP1L:NM_173543:exon13:c.A1633G:p.T545A 0.63 0.31 0.78 0.63 0.86 0.72 0.7717 0.4279 0.6753 0.6580 0.7486 0.8649 0.8072 0.7416 0.72 0.44 0.87 0.58 0.7 rs446644 . . . . . . . . . . . . . 0.229 0.183 T 0.039 0.197 B 0.011 0.145 B 0.290 0.148 N 1 0.090 P 1.79 0.469 L 1.04 0.402 T -1.64 0.393 N 0.009 0.001 -0.995 0.314 T 0.000 0.000 T . . . -1.870 0.010 0.002 0.695 0.087 0.051 0.107 N c -1.199 -1.231 1.000 0.410 0.732 0.924 0 -0.849 0.101 -0.885 0.042 -0.259 0.088 0.000 0.063 0.001 0.043 3.469 0.071 . ENSG00000158163.10|ENSG00000158163.10 Artery_Tibial|Colon_Transverse 0.7734 0.4211 0.6940 0.8857 0.6551 0.7421 0.8649 0.8034 0.7345 0.7078 0.4265 0.7297 0.88 0.6607 0.7456 0.8557 0.8082 hom 2048.60 72 3 137787192 . T C 2048.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.444;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=57.89;MQ0=0;MQRankSum=1.540;QD=28.45;ReadPosRankSum=1.684;VQSLOD=6.4662;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,71:72:99:2082,151,0 3 137807259 137807259 G A exonic DZIP1L nonsynonymous SNV DZIP1L:NM_173543:exon6:c.C961T:p.R321W,DZIP1L:NM_001170538:exon7:c.C961T:p.R321W 0.54 0.19 0.69 0.61 0.69 0.67 0.6386 0.2865 0.6101 0.6465 0.6082 0.6950 0.6377 0.6598 0.57 0.29 0.71 0.42 0.66 rs2724693 COSM5002711;COSM5002710 1(pancreas) . . . . . . . . . . . 0.021 0.524 D 0.995 0.657 D 0.533 0.468 P 0.440 0.126 N 1 0.090 P 0.55 0.145 N 0.83 0.478 T -1.53 0.402 N 0.061 0.141 -1.036 0.184 T 0.000 0.000 T . . . 3.434 0.471 23.0 0.998 0.861 0.201 0.207 N c -0.265 -0.321 0.999 0.372 0.651 0.465 0 3.29 0.366 1.016 0.294 1.048 0.713 0.596 0.275 0.001 0.043 6.885 0.232 . ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.6460 0.2786 0.6236 0.7293 0.6494 0.6050 0.6988 0.6620 0.6604 0.5610 0.2843 0.6492 0.7517 0.6566 0.6008 0.6882 0.6446 het 674.96 60 3 137807259 . G A 674.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.519;DP=60;Dels=0.00;FS=2.652;HRun=0;HaplotypeScore=1.9150;MQ=59.38;MQ0=0;MQRankSum=0.230;QD=11.25;ReadPosRankSum=1.030;VQSLOD=6.6399;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,28:60:99:705,0,797 3 137843106 137843106 T C exonic A4GNT synonymous SNV A4GNT:NM_016161:exon3:c.A1023G:p.X341X 0.65 0.64 0.72 0.64 0.67 0.62 0.6549 0.6423 0.6189 0.6690 0.6418 0.6674 0.6540 0.6357 0.66 0.64 0.67 0.6 0.72 rs2170309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6547 0.6461 0.6319 0.6763 0.6710 0.6372 0.6681 0.6595 0.6314 0.6543 0.6529 0.6423 0.7185 0.6764 0.6261 0.6571 0.6800 het 2016.64 152 3 137843106 . T C 2016.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.790;DP=152;Dels=0.00;FS=1.314;HRun=0;HaplotypeScore=4.3396;MQ=58.38;MQ0=0;MQRankSum=-0.038;QD=13.27;ReadPosRankSum=-0.594;VQSLOD=5.5249;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,77:152:99:2047,0,1897 3 137843476 137843476 G T exonic A4GNT nonsynonymous SNV A4GNT:NM_016161:exon3:c.C653A:p.A218D 0.65 0.64 0.72 0.64 0.67 0.62 0.6523 0.6408 0.6185 0.6666 0.6413 0.6661 0.6509 0.6245 0.66 0.64 0.67 0.6 0.68 rs2246945 . . . . . . . . . . . . . 0.914 0.023 T 0.0 0.026 B 0.002 0.063 B 0.898 0.073 N 1 0.090 P -0.28 0.037 N -1.2 0.785 T 0.21 0.048 N 0.025 0.007 -0.956 0.399 T 0.000 0.000 T . . . 0.025 0.096 2.825 0.260 0.012 0.004 0.021 N c -1.351 -1.330 1.000 0.423 0.516 0.203 0 -1.83 0.074 -0.352 0.077 -0.984 0.023 0.001 0.137 0.665 0.302 10.381 0.431 Alpha 1\x2c4-glycosyltransferase domain|Nucleotide-diphospho-sugar transferases ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3|ENSG00000118017.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.6539 0.6457 0.6310 0.6756 0.6702 0.6368 0.6678 0.6580 0.6284 0.6545 0.6535 0.6423 0.7185 0.6786 0.6264 0.6569 0.6782 het 1165.51 117 3 137843476 . G T 1165.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.759;DP=117;Dels=0.00;FS=3.421;HRun=0;HaplotypeScore=4.0749;MQ=59.09;MQ0=0;MQRankSum=-1.014;QD=9.96;ReadPosRankSum=1.970;VQSLOD=4.5968;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,49:117:99:1196,0,1923 3 137850003 137850003 A G exonic A4GNT synonymous SNV A4GNT:NM_016161:exon2:c.T96C:p.C32C 0.61 0.59 0.72 0.55 0.66 0.58 0.6387 0.6022 0.6155 0.5902 0.6469 0.6659 0.6527 0.5892 0.65 0.6 0.67 0.58 0.63 rs2724691 COSM5482393 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6418 0.6029 0.6286 0.6800 0.5938 0.6452 0.6675 0.6477 0.5938 0.6353 0.6005 0.6367 0.7282 0.6103 0.6350 0.6545 0.6636 het 1914.51 175 3 137850003 . A G 1914.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.051;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1689;MQ=59.31;MQ0=0;MQRankSum=0.462;QD=10.94;ReadPosRankSum=0.547;VQSLOD=5.6216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:103,72:175:99:1945,0,2646 3 137880743 137880743 G A exonic DBR1 synonymous SNV DBR1:NM_016216:exon8:c.C1623T:p.D541D 0.58 0.46 0.7 0.55 0.68 0.6 0.6300 0.4781 0.6002 0.5740 0.6590 0.6743 0.6489 0.5856 0.62 0.49 0.69 0.51 0.73 rs2622736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6285 0.4754 0.6069 0.6718 0.5731 0.6520 0.6688 0.6349 0.5826 0.6163 0.4895 0.6316 0.7467 0.6121 0.6494 0.6753 0.6790 het 2639.09 195 3 137880743 . G A 2639.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.105;DP=195;Dels=0.01;FS=0.600;HRun=0;HaplotypeScore=3.8974;MQ=59.29;MQ0=0;MQRankSum=1.872;QD=13.46;ReadPosRankSum=0.920;VQSLOD=5.7760;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,99:195:99:2669,0,2356 3 137881265 137881265 T A exonic DBR1 synonymous SNV DBR1:NM_016216:exon8:c.A1101T:p.T367T 0.69 0.81 0.74 0.55 0.68 0.65 0.6801 0.8019 0.6288 0.5929 0.6684 0.6904 0.6762 0.6481 0.73 0.8 0.69 0.64 0.75 rs3732839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6768 0.8084 0.6422 0.7013 0.5935 0.6659 0.6894 0.6742 0.6510 0.7087 0.8057 0.6619 0.7517 0.6152 0.6576 0.6763 0.7041 het 1147.88 109 3 137881265 . T A 1147.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.053;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.83;MQ0=0;MQRankSum=-0.046;QD=10.53;ReadPosRankSum=0.034;VQSLOD=6.6603;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,43:109:99:1178,0,1925 3 138023785 138023785 C T exonic NME9 nonsynonymous SNV NME9:NM_001349020:exon7:c.G532A:p.V178M,NME9:NM_001349021:exon7:c.G532A:p.V178M,NME9:NM_001349023:exon7:c.G451A:p.V151M,NME9:NM_001349025:exon8:c.G604A:p.V202M,NME9:NM_001349018:exon9:c.G721A:p.V241M,NME9:NM_001349022:exon9:c.G538A:p.V180M,NME9:NM_001349024:exon9:c.G604A:p.V202M,NME9:NM_178130:exon10:c.G538A:p.V180M . . . . . . 2.472e-05 0 0 0 0 0 0 0.0002 . . . . . rs779777202 . . . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 0.997 0.850 D 0.000 0.629 D 1.000 0.588 D 4.19 0.978 H 0.33 0.583 T -2.66 0.569 D 0.675 0.703 -0.173 0.784 T 0.407 0.757 T 0.240 0.887 D 5.828 0.798 27.2 0.998 0.878 0.956 0.652 D c 0.446 0.356 1.000 0.747 0.487 0.133 0 5.44 0.793 5.228 0.649 0.892 0.403 0.997 0.399 0.712 0.312 16.744 0.853 . . . 3.252e-05 0 0 0 0 0 0 0 0.0003 3.23e-05 0 0 0 0 0 6.668e-05 0 het 3017.61 250 3 138023785 . C T 3017.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.763;DP=250;DS;Dels=0.00;FS=4.472;HRun=0;HaplotypeScore=9.4978;MQ=59.21;MQ0=0;MQRankSum=1.068;QD=12.07;ReadPosRankSum=-1.694;VQSLOD=2.2166;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:3048,0,3668 3 138033181 138033181 C T exonic NME9 synonymous SNV NME9:NM_001349020:exon4:c.G264A:p.E88E,NME9:NM_001349021:exon4:c.G264A:p.E88E,NME9:NM_001349023:exon4:c.G183A:p.E61E,NME9:NM_001349025:exon5:c.G336A:p.E112E,NME9:NM_001349018:exon6:c.G453A:p.E151E,NME9:NM_001349022:exon6:c.G270A:p.E90E,NME9:NM_001349024:exon6:c.G336A:p.E112E,NME9:NM_178130:exon7:c.G270A:p.E90E 0.7 0.55 0.8 0.8 0.7 0.72 0.7142 0.5767 0.8604 0.8179 0.7176 0.7075 0.7015 0.6701 0.67 0.59 0.71 0.63 0.72 rs9289556 . . Benign not_specified RCV000454729.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7221 0.5822 0.8564 0.6527 0.8188 0.7125 0.7081 0.7160 0.6731 0.6843 0.6045 0.8329 0.6656 0.8110 0.7109 0.7014 0.7080 hom 7267.15 249 3 138033181 . C T 7267.15 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8230;MQ=58.78;MQ0=0;QD=29.19;VQSLOD=8.5184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7267,542,0 3 138191232 138191232 G A exonic ESYT3 nonsynonymous SNV ESYT3:NM_001322831:exon18:c.G1768A:p.G590R,ESYT3:NM_001322834:exon18:c.G1768A:p.G590R,ESYT3:NM_031913:exon18:c.G1768A:p.G590R 0.38 0.051 0.54 0.53 0.44 0.48 0.4437 0.1054 0.6070 0.5800 0.4716 0.4453 0.4189 0.4424 0.34 0.11 0.45 0.27 0.41 rs10935282 COSM5960164 1(thyroid) . . . . . . . . . . . 0.593 0.057 T 0.218 0.285 B 0.035 0.214 B 0.068 0.217 N 0.595 0.310 P 1.265 0.321 L -0.51 0.706 T 0.08 0.060 N 0.268 0.326 -0.947 0.415 T 0.000 0.000 T . . . 3.961 0.533 23.6 0.707 0.091 0.610 0.311 D c -0.117 0.017 1.000 0.747 0.615 0.372 0 4.45 0.532 2.624 0.459 1.048 0.713 1.000 0.715 1.000 0.888 14.617 0.680 C2 domain ENSG00000158234.8|ENSG00000158234.8|ENSG00000158234.8|ENSG00000114107.4 Brain_Frontal_Cortex_BA9|Esophagus_Mucosa|Muscle_Skeletal|Thyroid 0.4533 0.0980 0.5945 0.4014 0.5810 0.4696 0.4440 0.4474 0.4442 0.3604 0.1069 0.5644 0.3667 0.5781 0.4631 0.4438 0.4398 het 1763.54 188 3 138191232 . G A 1763.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.483;DP=188;Dels=0.00;FS=7.566;HRun=0;HaplotypeScore=5.8094;MQ=59.03;MQ0=0;MQRankSum=0.277;QD=9.38;ReadPosRankSum=0.608;VQSLOD=4.4671;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,75:188:99:1794,0,3159 3 138289163 138289163 T C exonic CEP70 synonymous SNV CEP70:NM_001288965:exon5:c.A402G:p.L134L,CEP70:NM_001320600:exon5:c.A462G:p.L154L,CEP70:NM_001288964:exon6:c.A408G:p.L136L,CEP70:NM_001288966:exon6:c.A462G:p.L154L,CEP70:NM_001320598:exon6:c.A462G:p.L154L,CEP70:NM_001320599:exon6:c.A462G:p.L154L,CEP70:NM_024491:exon6:c.A462G:p.L154L 0.48 0.24 0.64 0.55 0.51 0.61 0.5376 0.2638 0.7703 0.5879 0.5715 0.5186 0.5278 0.5853 0.44 0.27 0.53 0.37 0.47 rs1673608 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5341 0.2534 0.7303 0.4295 0.5862 0.5648 0.5144 0.5345 0.5653 0.4651 0.2645 0.7041 0.3907 0.5854 0.5655 0.5296 0.5236 hom 2021.86 65 3 138289163 . T C 2021.86 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=31.11;VQSLOD=9.6200;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2055,153,0 3 138289221 138289221 C T exonic CEP70 nonsynonymous SNV CEP70:NM_001288965:exon5:c.G344A:p.S115N,CEP70:NM_001320600:exon5:c.G404A:p.S135N,CEP70:NM_001288964:exon6:c.G350A:p.S117N,CEP70:NM_001288966:exon6:c.G404A:p.S135N,CEP70:NM_001320598:exon6:c.G404A:p.S135N,CEP70:NM_001320599:exon6:c.G404A:p.S135N,CEP70:NM_024491:exon6:c.G404A:p.S135N 0.69 0.59 0.71 0.94 0.53 0.71 0.6241 0.5945 0.8047 0.9511 0.6314 0.5434 0.6101 0.6691 0.57 0.6 0.55 0.65 0.54 rs1673607 . . . . . . . . . . . . . 0.65 0.099 T 0.0 0.026 B 0.0 0.013 B 0.158 0.177 N 1 0.374 P -0.78 0.016 N 1.44 0.464 T -0.35 0.129 N 0.006 0.008 -1.016 0.249 T 0.000 0.000 T . . . -0.150 0.080 1.390 0.275 0.014 0.075 0.133 N c -1.272 -1.089 0.002 0.090 0.706 0.609 0 -0.474 0.115 0.194 0.168 -0.673 0.039 0.998 0.411 0.785 0.331 4.235 0.100 . ENSG00000158234.8|ENSG00000158234.8|ENSG00000114107.4|ENSG00000158220.9|ENSG00000158234.8|ENSG00000114107.4|ENSG00000158234.8|ENSG00000158234.8|ENSG00000114107.4 Brain_Frontal_Cortex_BA9|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis 0.6271 0.5932 0.7739 0.4958 0.9539 0.6252 0.5423 0.6097 0.6671 0.5974 0.5843 0.7422 0.4433 0.9462 0.6304 0.5544 0.6010 hom 2814.82 89 3 138289221 . C T 2814.82 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9332;MQ=58.75;MQ0=0;QD=31.63;VQSLOD=8.8042;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2848,229,0 3 138329862 138329862 G A exonic FAIM synonymous SNV FAIM:NM_001033030:exon2:c.G63A:p.P21P 0.71 0.55 0.73 0.98 0.56 0.78 0.6504 0.5631 0.8091 0.9895 0.6941 0.5685 0.6355 0.7303 0.57 0.57 0.57 0.63 0.59 rs811322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6566 0.5653 0.7812 0.5027 0.9902 0.6935 0.5671 0.6308 0.7310 0.6147 0.5550 0.7524 0.4669 0.9901 0.6986 0.5833 0.6365 hom 6706.44 212 3 138329862 . G A 6706.44 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9106;MQ=59.36;MQ0=0;QD=31.63;VQSLOD=8.7186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6706,521,0 3 138668458 138668467 GGCATTCGAA - exonic FOXL2NB frameshift deletion FOXL2NB:NM_001040061:exon2:c.197_206del:p.H67Lfs*25 0.009 0.0015 0.013 . 0.028 0.0061 0.0170 0.0044 0.0072 0.0001 0.0608 0.0204 0.0224 0.0084 0.013 0.004 0.018 . . rs141282655 COSM5713098 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0175 0.0041 0.0054 0.0040 0.0001 0.0605 0.0203 0.0183 0.0097 0.0242 0.0039 0.0036 0.0033 0 0.0753 0.0279 0.0295 het 1793.71 106 3 138668457 . CGGCATTCGAA C 1793.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.383;DP=106;FS=0.000;HRun=0;HaplotypeScore=867.4403;MQ=52.99;MQ0=0;MQRankSum=-6.445;QD=16.76;ReadPosRankSum=1.204;set=variant2 GT:AD:DP:GQ:PL 0/1:84,23:106:99:1833,0,10900 3 140167536 140167536 A G exonic CLSTN2 synonymous SNV CLSTN2:NM_022131:exon6:c.A963G:p.Q321Q 0.85 0.99 0.86 0.65 0.86 0.83 0.8504 0.9745 0.8194 0.6685 0.8368 0.8635 0.8359 0.8422 0.9 0.97 0.86 0.86 0.87 rs2081803 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8469 0.9769 0.8331 0.8208 0.6681 0.8365 0.8657 0.8545 0.8441 0.8789 0.9724 0.8532 0.8444 0.6768 0.8437 0.8586 0.8473 hom 4657.33 137 3 140167536 . A G 4657.33 Mask AC=2;AF=1.00;AN=2;DP=137;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.83;MQ0=0;QD=34.00;VQSLOD=9.5964;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4657,364,0 3 140178485 140178485 G A exonic CLSTN2 nonsynonymous SNV CLSTN2:NM_022131:exon7:c.G1096A:p.V366I 0.53 0.61 0.43 0.5 0.59 0.47 0.5648 0.6046 0.3775 0.5071 0.6010 0.6088 0.5837 0.5078 0.6 0.59 0.61 0.49 0.67 rs7632885 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.477 N 1.000 0.209 P -0.31 0.036 N -0.82 0.741 T 0.12 0.056 N 0.048 0.029 -0.915 0.463 T 0.000 0.000 T . . . 0.485 0.141 7.315 0.742 0.103 0.487 0.280 N c -0.723 -0.490 0.978 0.298 0.638 0.428 0 4.25 0.495 1.836 0.386 0.244 0.267 1.000 0.715 0.873 0.365 8.393 0.315 Concanavalin A-like lectin/glucanase domain . . 0.5548 0.6002 0.3885 0.5745 0.5070 0.5974 0.6080 0.5620 0.5093 0.5923 0.5991 0.4019 0.5695 0.5093 0.6002 0.6089 0.5583 het 1171.50 92 3 140178485 . G A 1171.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.468;DP=92;Dels=0.00;FS=2.817;HRun=3;HaplotypeScore=0.9995;MQ=59.04;MQ0=0;MQRankSum=1.273;QD=12.73;ReadPosRankSum=-0.211;VQSLOD=6.5447;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,47:92:99:1201,0,1307 3 140281723 140281723 C T exonic CLSTN2 synonymous SNV CLSTN2:NM_022131:exon14:c.C2283T:p.S761S 0.34 0.067 0.5 0.1 0.68 0.48 0.5738 0.1441 0.4333 0.1026 0.6796 0.7255 0.6200 0.5300 0.52 0.16 0.71 0.32 0.68 rs11714465 COSM5009641 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5739 0.1367 0.4437 0.7426 0.1023 0.6842 0.7178 0.6204 0.5337 0.5047 0.1540 0.4579 0.6987 0.0962 0.6995 0.6972 0.6426 hom 2700.78 81 3 140281723 . C T 2700.78 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=33.34;VQSLOD=9.4969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2734,220,0 3 140282861 140282861 C T exonic CLSTN2 synonymous SNV CLSTN2:NM_022131:exon16:c.C2541T:p.V847V 0.37 0.2 0.51 0.1 0.68 0.48 0.5843 0.2603 0.4393 0.1022 0.6797 0.7256 0.6256 0.5302 0.56 0.28 0.71 0.36 0.68 rs10804675 COSM4157316 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5823 0.2558 0.4497 0.7424 0.1022 0.6842 0.7181 0.6259 0.5340 0.5387 0.2717 0.4651 0.6987 0.0958 0.6994 0.6982 0.6477 hom 8359.87 239 3 140282861 . C T 8359.87 Mask AC=2;AF=1.00;AN=2;DP=239;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2521;MQ=59.57;MQ0=0;QD=34.98;VQSLOD=8.1110;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,239:239:99:8359,674,0 3 140401693 140401693 A G exonic TRIM42 nonsynonymous SNV TRIM42:NM_152616:exon2:c.A731G:p.K244R 1. 1. 1. 1. 1. 1. 0.9993 0.9995 0.9976 1 1 0.9992 0.9989 1 1. 1. 1. 1. 0.92 rs698673 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.377 0.134 N 1 0.090 P -0.695 0.019 N 1.16 0.381 T -0.1 0.085 N 0.059 0.043 -0.964 0.384 T 0.000 0.000 T . . . -2.511 0.003 0.001 0.121 0.002 0.010 0.037 N c -1.483 -1.412 0.000 0.046 0.487 0.133 0 1.87 0.244 0.178 0.165 -0.232 0.094 0.000 0.063 0.018 0.130 7.858 0.285 B-box-type zinc finger . . 0.9990 0.9995 0.9968 0.9999 1 1 0.9989 0.9989 1 0.9992 0.9998 0.9964 1 1 1 0.9987 0.9990 hom 7454.29 218 3 140401693 . A G 7454.29 Mask AC=2;AF=1.00;AN=2;DP=218;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2268;MQ=59.47;MQ0=0;QD=34.19;VQSLOD=7.5010;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:7454,587,0 3 140406947 140406947 G A exonic TRIM42 nonsynonymous SNV TRIM42:NM_152616:exon3:c.G1423A:p.V475M 0.4 0.27 0.51 0.39 0.53 0.38 0.5133 0.2991 0.5104 0.3959 0.5605 0.5763 0.5264 0.4378 0.49 0.31 0.58 0.34 0.57 rs28594654 COSM4419527 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.667 0.046 T 0.0 0.026 B 0.0 0.013 B 0.047 0.234 N 1 0.090 P -0.69 0.019 N 1.18 0.377 T 0.4 0.035 N 0.049 0.030 -0.934 0.436 T 0.000 0.000 T . . . 0.510 0.143 7.505 0.080 0.001 0.006 0.026 N c -1.060 -0.934 0.000 0.029 0.487 0.133 0 1.79 0.239 0.381 0.202 0.244 0.267 0.030 0.202 0.180 0.213 4.426 0.108 COS domain ENSG00000155890.3|ENSG00000250433.1 Testis|Testis 0.5190 0.2995 0.5205 0.5592 0.3951 0.5653 0.5754 0.5400 0.4409 0.4833 0.3083 0.5455 0.55 0.4014 0.5639 0.5669 0.5359 hom 3308.34 105 3 140406947 . G A 3308.34 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8936;MQ=59.19;MQ0=0;QD=31.51;VQSLOD=9.4599;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3308,256,0 3 140409837 140409837 G A exonic TRIM42 nonsynonymous SNV TRIM42:NM_152616:exon4:c.G1888A:p.V630M 0.002 0.0023 0.0058 . 0.003 . 0.0032 0.0005 0.0031 0 0.0020 0.0049 0.0055 0.0002 0.0035 0.0007 0.005 . 0.016 rs79845561 COSM3695846 1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.999 0.916 D 0.000 0.559 D 0.885 0.358 D 0.895 0.225 L 0.38 0.576 T -1.05 0.275 N 0.846 0.833 -0.600 0.649 T 0.174 0.517 T 0.026 0.494 D 6.664 0.913 32 0.999 0.982 0.913 0.530 D c 0.623 0.667 0.562 0.214 0.487 0.133 0 5.82 0.927 4.260 0.584 1.048 0.713 1.000 0.715 0.991 0.552 15.601 0.763 Fibronectin type III|Immunoglobulin-like fold . . 0.0030 0.0007 0.0032 0.0003 5.798e-05 0.0016 0.0050 0.0053 0.0002 0.0024 0.0007 0.0012 0 0 0.0023 0.0037 0.0041 het 1393.43 95 3 140409837 . G A 1393.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.968;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=60.00;MQ0=0;MQRankSum=0.468;QD=14.67;ReadPosRankSum=0.019;VQSLOD=5.6392;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,52:95:99:1423,0,994 3 141327474 141327474 G A exonic RASA2 synonymous SNV RASA2:NM_001303245:exon21:c.G2163A:p.L721L,RASA2:NM_006506:exon21:c.G2160A:p.L720L,RASA2:NM_001303246:exon22:c.G2172A:p.L724L 0.45 0.73 0.46 0.29 0.38 0.3 0.3965 0.6776 0.4486 0.3198 0.3702 0.3741 0.3315 0.3279 0.48 0.67 0.39 0.52 0.34 rs295323 COSM5426205;COSM149482 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3961 0.6794 0.4469 0.3702 0.3243 0.3720 0.3786 0.3762 0.3331 0.4531 0.6718 0.4414 0.3742 0.3292 0.3624 0.3695 0.3507 het 1145.53 113 3 141327474 . G A 1145.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.434;DP=113;Dels=0.00;FS=1.537;HRun=2;HaplotypeScore=3.6134;MQ=58.59;MQ0=0;MQRankSum=1.284;QD=10.14;ReadPosRankSum=0.334;VQSLOD=5.9656;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,49:113:99:1176,0,1721 3 141535558 141535558 A G exonic GRK7 nonsynonymous SNV GRK7:NM_139209:exon4:c.A1328G:p.E443G 0.056 0.052 0.066 0.014 0.11 0.047 0.0952 0.0618 0.0532 0.0088 0.0830 0.1269 0.1124 0.0498 0.11 0.065 0.13 0.033 0.12 rs36009541 . . . . . . . . . . . . . 0.517 0.073 T 0.003 0.102 B 0.005 0.104 B 0.013 0.290 N 1 0.090 P 0.38 0.122 N -0.43 0.697 T 1.32 0.009 N 0.052 0.034 -1.053 0.135 T 0.001 0.004 T . . . 1.375 0.229 12.66 0.938 0.232 0.075 0.134 N c -0.702 -0.485 0.639 0.220 0.497 0.185 0 5.4 0.779 1.153 0.311 1.140 0.893 0.514 0.268 1.000 0.888 5.923 0.182 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain . . 0.0931 0.0628 0.0614 0.1028 0.0098 0.0780 0.1305 0.0984 0.0498 0.0985 0.0619 0.0706 0.1159 0.0056 0.0741 0.1375 0.0857 het 840.48 69 3 141535558 . A G 840.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.993;DP=69;Dels=0.00;FS=2.744;HRun=1;HaplotypeScore=2.8585;MQ=59.46;MQ0=0;MQRankSum=1.108;QD=12.18;ReadPosRankSum=-0.490;VQSLOD=6.1046;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:870,0,1062 3 141535608 141535608 C A exonic GRK7 nonsynonymous SNV GRK7:NM_139209:exon4:c.C1378A:p.P460T 0.064 0.082 0.068 0.014 0.11 0.047 0.0988 0.0798 0.0542 0.0089 0.0830 0.1284 0.1148 0.0646 0.11 0.084 0.13 0.043 0.14 rs33928105 . . . . . . . . . . . . . 0.106 0.296 T 0.201 0.280 B 0.058 0.250 B 0.003 0.363 N 0.929 0.271 P 1.61 0.413 L 1.84 0.247 T -0.36 0.131 N 0.062 0.047 -1.073 0.087 T 0.001 0.002 T . . . 2.423 0.353 18.97 0.970 0.316 0.956 0.651 D c -0.194 -0.088 0.917 0.265 0.447 0.083 0 2.52 0.294 3.376 0.519 -1.082 0.019 1.000 0.715 0.969 0.458 7.286 0.254 AGC-kinase\x2c C-terminal|Protein kinase-like domain . . 0.0945 0.0827 0.0627 0.1010 0.0098 0.0775 0.1316 0.0999 0.0492 0.1033 0.0796 0.0692 0.1167 0.0062 0.0738 0.1371 0.0878 het 1299.54 128 3 141535608 . C A 1299.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.162;DP=128;Dels=0.00;FS=4.454;HRun=0;HaplotypeScore=0.8667;MQ=59.23;MQ0=0;MQRankSum=0.732;QD=10.15;ReadPosRankSum=0.245;VQSLOD=5.4900;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,55:128:99:1330,0,2036 3 142168331 142168331 C T exonic ATR synonymous SNV ATR:NM_001184:exon47:c.G7875A:p.Q2625Q 0.92 0.99 0.81 0.93 0.87 0.94 0.8646 0.9721 0.7549 0.9302 0.8134 0.8463 0.8488 0.9348 0.9 0.97 0.86 0.94 0.88 rs1802904 . . other|Benign not_specified|Seckel_syndrome RCV000079601.6|RCV000366216.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8574 0.9730 0.7559 0.7772 0.9330 0.8111 0.8558 0.8352 0.9373 0.8880 0.9702 0.7775 0.8079 0.9420 0.7995 0.8651 0.8510 hom 4482.35 149 3 142168331 . C T 4482.35 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=30.08;VQSLOD=8.8879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4482,334,0 3 142178144 142178144 C T exonic ATR nonsynonymous SNV ATR:NM_001184:exon43:c.G7274A:p.R2425Q 0.1 0.066 0.1 0.1 0.17 0.08 0.1328 0.0808 0.0969 0.1019 0.1665 0.1571 0.1545 0.0939 0.13 0.088 0.16 0.11 0.14 rs2229032 COSM149485 1(stomach);2(haematopoietic_and_lymphoid_tissue);12(soft_tissue);1(thyroid);1(upper_aerodigestive_tract) Benign|Likely benign not_specified|Seckel_syndrome RCV000145330.2|RCV000321936.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . 0.56 0.064 T 0.0 0.026 B 0.001 0.040 B 0.249 0.155 N 0.998 0.224 P 0.615 0.157 N -1.0 0.760 T 0.04 0.065 N 0.019 0.223 -1.105 0.035 T 0.001 0.002 T . . . 1.116 0.201 11.30 0.842 0.146 0.231 0.218 N c -1.517 -1.496 0.999 0.388 0.706 0.609 0 -9.12 0.006 0.037 0.136 -1.656 0.008 0.961 0.334 0.958 0.437 19.102 0.932 Phosphatidylinositol 3-/4-kinase\x2c catalytic domain ENSG00000120756.8 Artery_Aorta 0.1310 0.0788 0.0991 0.0792 0.0983 0.1659 0.1599 0.1315 0.0961 0.1332 0.0813 0.1160 0.0728 0.1017 0.1746 0.1584 0.1469 het 892.04 55 3 142178144 . C T 892.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.486;DP=55;Dels=0.00;FS=1.040;HRun=1;HaplotypeScore=1.8410;MQ=59.58;MQ0=0;MQRankSum=-1.196;QD=16.22;ReadPosRankSum=-0.178;VQSLOD=6.1227;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,31:55:99:922,0,586 3 142222284 142222284 A G exonic ATR synonymous SNV ATR:NM_001184:exon30:c.T5208C:p.Y1736Y 0.31 0.21 0.35 0.35 0.39 0.3 0.3640 0.2179 0.3168 0.3579 0.3949 0.4131 0.3730 0.2768 0.35 0.21 0.42 0.34 0.43 rs2227931 COSM4002479 1(haematopoietic_and_lymphoid_tissue);3(large_intestine);1(biliary_tract) Likely benign|Benign not_specified|Seckel_syndrome RCV000145318.1|RCV000271882.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3602 0.2000 0.3180 0.4630 0.3607 0.3890 0.4046 0.3862 0.2653 0.3410 0.1968 0.3349 0.4570 0.3739 0.3724 0.4087 0.3947 het 1450 134 3 142222284 . A G 1450 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.202;DP=134;Dels=0.00;FS=3.462;HRun=1;HaplotypeScore=8.3313;MQ=57.94;MQ0=0;MQRankSum=0.357;QD=10.82;ReadPosRankSum=-0.187;VQSLOD=4.2651;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,63:134:99:1480,0,1765 3 142277536 142277536 A G exonic ATR synonymous SNV ATR:NM_001184:exon8:c.T1815C:p.D605D 0.31 0.2 0.35 0.36 0.39 0.3 0.3516 0.2034 0.3099 0.3554 0.3846 0.3983 0.3634 0.2697 0.35 0.21 0.41 0.33 0.44 rs2227929 COSM4002481 1(haematopoietic_and_lymphoid_tissue);1(kidney);3(large_intestine) Benign|Benign not_specified|Seckel_syndrome RCV000145292.4|RCV000350591.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3568 0.1986 0.3188 0.4551 0.3613 0.3830 0.3991 0.3856 0.2653 0.3358 0.1941 0.3329 0.4470 0.3747 0.3638 0.4022 0.3837 het 3968.68 250 3 142277536 . A G 3968.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.187;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8498;MQ=59.48;MQ0=0;MQRankSum=0.240;QD=15.87;ReadPosRankSum=-0.138;VQSLOD=5.5175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:127,123:250:99:3303,0,3513 3 142277575 142277575 A T exonic ATR synonymous SNV ATR:NM_001184:exon8:c.T1776A:p.G592G 0.6 0.85 0.51 0.47 0.59 0.46 0.5529 0.8024 0.4389 0.4642 0.5537 0.5741 0.5518 0.4362 0.66 0.8 0.59 0.66 0.65 rs2227930 COSM149486 1(stomach);1(haematopoietic_and_lymphoid_tissue);20(soft_tissue);1(pancreas);2(large_intestine) other|Benign not_specified|Seckel_syndrome RCV000145291.5|RCV000306424.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5456 0.7983 0.4526 0.5640 0.4670 0.5519 0.5789 0.5544 0.4320 0.6300 0.7950 0.4976 0.5728 0.4851 0.5406 0.5824 0.5704 hom 8302.48 249 3 142277575 . A T 8302.48 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9829;MQ=59.50;MQ0=0;MQRankSum=1.718;QD=33.34;ReadPosRankSum=1.301;VQSLOD=6.2276;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,248:249:99:8301,680,0 3 142281612 142281612 A G exonic ATR nonsynonymous SNV ATR:NM_001184:exon4:c.T632C:p.M211T 0.6 0.85 0.51 0.47 0.59 0.46 0.5540 0.8000 0.4404 0.4658 0.5544 0.5752 0.5520 0.4390 0.66 0.79 0.6 0.69 0.57 rs2227928 COSM149487 1(stomach);1(haematopoietic_and_lymphoid_tissue);20(soft_tissue);4(prostate);3(large_intestine) other|Benign not_specified|Seckel_syndrome RCV000079600.6|RCV000267092.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265202:ORPHA808:57917004 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.299 0.146 N 1.000 0.090 P 0.145 0.088 N -0.14 0.650 T -0.2 0.102 N 0.018 0.003 -0.930 0.442 T 0.000 0.000 T . . . -0.115 0.083 1.622 0.593 0.060 0.108 0.160 N c -0.764 -0.533 0.498 0.209 0.651 0.465 0 4.6 0.564 1.477 0.348 -0.247 0.091 0.937 0.323 0.958 0.437 4.074 0.093 . ENSG00000242479.1|ENSG00000175054.10|ENSG00000242479.1|ENSG00000242479.1|ENSG00000242479.1|ENSG00000175054.10|ENSG00000242479.1|ENSG00000175054.10|ENSG00000242479.1|ENSG00000272565.1|ENSG00000242479.1|ENSG00000175054.10|ENSG00000114127.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid 0.5475 0.7950 0.4548 0.5664 0.4683 0.5524 0.5799 0.5552 0.4358 0.6291 0.7916 0.4964 0.5728 0.4845 0.5404 0.5832 0.5708 hom 1420.99 48 3 142281612 . A G 1420.99 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;QD=29.60;VQSLOD=8.2706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1454,123,0 3 142408606 142408606 G A exonic PLS1 synonymous SNV PLS1:NM_001145319:exon10:c.G1128A:p.P376P,PLS1:NM_001172312:exon10:c.G1128A:p.P376P,PLS1:NM_002670:exon10:c.G1128A:p.P376P 0.62 0.94 0.47 0.4 0.66 0.46 0.5942 0.8983 0.3837 0.3710 0.6917 0.6358 0.6148 0.4572 0.73 0.89 0.65 0.65 0.73 rs6793735 COSM149488 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5851 0.9014 0.3993 0.6194 0.3719 0.6893 0.6397 0.5924 0.4509 0.7025 0.8975 0.4520 0.6060 0.3914 0.6917 0.6446 0.6445 hom 4478.36 143 3 142408606 . G A 4478.36 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5107;MQ=58.83;MQ0=0;QD=31.32;VQSLOD=6.4842;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4478,358,0 3 145917761 145917761 T C exonic PLSCR4 nonsynonymous SNV PLSCR4:NM_001128305:exon6:c.A463G:p.I155V,PLSCR4:NM_020353:exon6:c.A463G:p.I155V,PLSCR4:NM_001128304:exon8:c.A463G:p.I155V 0.24 0.099 0.38 0.19 0.34 0.27 0.3215 0.1489 0.4095 0.1912 0.4111 0.3460 0.3315 0.3026 0.28 0.15 0.35 0.22 0.37 rs1061409 COSM3759810 1(large_intestine) . . . . . . . . . . . 0.092 0.342 T 0.0 0.026 B 0.001 0.040 B 0.824 0.092 N 1.000 0.409 P 1.265 0.321 L 1.57 0.293 T -0.71 0.206 N 0.015 0.019 -0.926 0.447 T 0.000 0.000 T . . . -0.118 0.083 1.596 0.828 0.139 0.052 0.108 N c -1.177 -1.212 0.703 0.227 0.707 0.730 0 -4.72 0.030 -0.386 0.074 -0.276 0.085 0.205 0.241 0.774 0.328 2.874 0.052 . ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10 Adipose_Subcutaneous|Artery_Aorta|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.3289 0.1455 0.3968 0.4162 0.1931 0.4146 0.3361 0.3464 0.3030 0.2926 0.1504 0.3950 0.4404 0.2145 0.3966 0.3474 0.3432 het 776.70 72 3 145917761 . T C 776.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.796;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.16;MQ0=0;MQRankSum=0.265;QD=10.79;ReadPosRankSum=0.648;VQSLOD=6.8823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,36:72:99:807,0,882 3 145938619 145938619 T C exonic PLSCR4 nonsynonymous SNV PLSCR4:NM_001177304:exon2:c.A56G:p.N19S,PLSCR4:NM_001128305:exon3:c.A101G:p.N34S,PLSCR4:NM_001128306:exon3:c.A101G:p.N34S,PLSCR4:NM_020353:exon3:c.A101G:p.N34S,PLSCR4:NM_001128304:exon5:c.A101G:p.N34S 0.31 0.35 0.41 0.19 0.34 0.27 0.3481 0.3678 0.4368 0.1914 0.4135 0.3536 0.3405 0.3082 0.35 0.35 0.35 0.29 0.33 rs3762685 COSM3759811 1(large_intestine) . . . . . . . . . . . 0.399 0.614 T 0.0 0.067 B 0.0 0.063 B 0.998 0.080 N 1 0.090 P 0.97 0.241 L 1.04 0.402 T -0.94 0.757 N 0.013 0.018 -0.956 0.400 T 0.000 0.000 T . . . -1.829 0.010 0.002 0.723 0.096 0.010 0.037 N c -1.597 -1.667 1.000 0.747 0.507 0.198 0 -8.49 0.008 -2.246 0.013 -0.289 0.083 0.007 0.175 0.966 0.452 0.804 0.010 . ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10|ENSG00000114698.10 Adipose_Subcutaneous|Artery_Aorta|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.3448 0.3571 0.4138 0.4348 0.1892 0.4116 0.3371 0.3547 0.3005 0.3506 0.3533 0.4057 0.4768 0.2148 0.3932 0.3484 0.3462 het 610.26 44 3 145938619 . T C 610.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.946;DP=44;Dels=0.00;FS=6.617;HRun=0;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;MQRankSum=0.340;QD=13.87;ReadPosRankSum=0.880;VQSLOD=5.4216;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:640,0,482 3 148562310 148562310 G A exonic CPB1 nonsynonymous SNV CPB1:NM_001871:exon7:c.G622A:p.D208N 0.27 0.35 0.14 0.3 0.2 0.3 0.2290 0.3125 0.1462 0.2615 0.2398 0.2089 0.2223 0.2937 0.24 0.31 0.21 0.28 0.21 rs1059502 COSM3759819 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.882 0.025 T 0.005 0.119 B 0.01 0.139 B 0.276 0.150 N 1.000 0.090 P 0.665 0.163 N 1.45 0.325 T -0.97 0.258 N 0.017 0.107 -0.944 0.420 T 0.000 0.000 T . . . -1.538 0.016 0.002 0.274 0.014 0.078 0.136 N c -1.821 -1.804 0.000 0.035 0.487 0.133 0 -2.76 0.055 -0.624 0.056 -0.812 0.031 0.000 0.063 0.415 0.257 10.213 0.421 Peptidase M14\x2c carboxypeptidase A . . 0.2241 0.3127 0.1498 0.1241 0.2689 0.2336 0.2183 0.1854 0.2888 0.2475 0.3052 0.1511 0.1325 0.2590 0.2351 0.2242 0.2347 het 1128.23 79 3 148562310 . G A 1128.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.959;DP=79;Dels=0.00;FS=1.854;HRun=1;HaplotypeScore=1.4450;MQ=58.97;MQ0=0;MQRankSum=1.554;QD=14.28;ReadPosRankSum=-1.406;VQSLOD=6.0418;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,44:79:99:1158,0,792 3 148597612 148597612 C T exonic CPA3 nonsynonymous SNV CPA3:NM_001870:exon6:c.C512T:p.T171M 0.97 1. 0.96 0.95 0.96 0.97 0.9577 0.9909 0.9165 0.9484 0.9773 0.9589 0.9626 0.9575 0.97 0.99 0.95 1. 0.93 rs12489516 . . . . . . . . . . . . . 0.689 0.043 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.194 P -3.295 0.000 N 1.65 0.276 T 3.5 0.001 N 0.093 0.092 -0.949 0.412 T 0.000 0.000 T . . . 2.812 0.399 21.4 0.855 0.154 0.052 0.109 N c -0.850 -0.518 0.996 0.343 0.487 0.133 0 4.77 0.603 5.043 0.638 0.119 0.209 1.000 0.715 0.997 0.653 9.934 0.405 Peptidase M14\x2c carboxypeptidase A . . 0.9566 0.9920 0.9233 0.9828 0.9458 0.9783 0.9564 0.9603 0.9570 0.9690 0.9922 0.9199 0.9735 0.9388 0.9814 0.9586 0.9684 hom 3365.39 114 3 148597612 . C T 3365.39 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=58.49;MQ0=0;QD=29.52;VQSLOD=8.8098;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3365,259,0 3 148727133 148727133 G A exonic GYG1 synonymous SNV GYG1:NM_001184720:exon5:c.G552A:p.P184P,GYG1:NM_001184721:exon5:c.G552A:p.P184P,GYG1:NM_004130:exon5:c.G552A:p.P184P 0.3 0.28 0.31 0.33 0.34 0.26 0.3125 0.2747 0.3527 0.3038 0.3963 0.3136 0.3117 0.2746 0.29 0.27 0.3 0.3 0.33 rs4938 COSM3759820 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000435478.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3144 0.2720 0.3516 0.2948 0.3014 0.3964 0.3079 0.3125 0.2728 0.3052 0.2707 0.3493 0.3046 0.3028 0.4129 0.2944 0.3571 het 1958.66 163 3 148727133 . G A 1958.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.437;DP=163;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=5.7560;MQ=58.57;MQ0=0;MQRankSum=0.387;QD=12.02;ReadPosRankSum=-0.231;VQSLOD=5.3706;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,80:163:99:1989,0,1957 3 148759325 148759325 T C exonic HLTF synonymous SNV HLTF:NM_001318934:exon20:c.A2325G:p.A775A,HLTF:NM_001318935:exon20:c.A2328G:p.A776A,HLTF:NM_003071:exon20:c.A2328G:p.A776A,HLTF:NM_139048:exon20:c.A2328G:p.A776A 0.32 0.32 0.31 0.34 0.34 0.27 0.3187 0.3071 0.3531 0.3128 0.3950 0.3162 0.3161 0.2843 0.31 0.3 0.31 0.3 0.32 rs2290725 COSM3759821 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3195 0.3045 0.3529 0.2932 0.3119 0.3946 0.3104 0.3152 0.2827 0.3153 0.3025 0.3565 0.2980 0.3180 0.4109 0.2954 0.3574 het 1463.11 134 3 148759325 . T C 1463.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.371;DP=134;Dels=0.00;FS=2.402;HRun=0;HaplotypeScore=1.9155;MQ=58.54;MQ0=0;MQRankSum=0.403;QD=10.92;ReadPosRankSum=0.224;VQSLOD=6.2554;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,59:134:99:1493,0,1951 3 148786108 148786108 C T exonic HLTF synonymous SNV HLTF:NM_001318934:exon8:c.G909A:p.T303T,HLTF:NM_001318935:exon8:c.G909A:p.T303T,HLTF:NM_003071:exon8:c.G909A:p.T303T,HLTF:NM_139048:exon8:c.G909A:p.T303T 0.74 0.87 0.81 0.71 0.74 0.56 0.7161 0.8381 0.8406 0.7047 0.7077 0.7108 0.7384 0.5815 0.75 0.83 0.71 0.74 0.66 rs812249 COSM1130320 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7148 0.8339 0.8233 0.8198 0.7019 0.7014 0.7010 0.7476 0.5680 0.7369 0.8307 0.8289 0.7980 0.7213 0.7109 0.6853 0.7127 het 1456.83 138 3 148786108 . C T 1456.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.487;DP=138;DS;Dels=0.00;FS=12.026;HRun=0;HaplotypeScore=1.5731;MQ=59.32;MQ0=0;MQRankSum=0.138;QD=10.56;ReadPosRankSum=-0.310;VQSLOD=4.2278;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,55:138:99:1487,0,2030 3 148872987 148872987 G A exonic HPS3 synonymous SNV HPS3:NM_001308258:exon7:c.G999A:p.Q333Q,HPS3:NM_032383:exon8:c.G1494A:p.Q498Q 0.49 0.7 0.35 0.36 0.43 0.5 0.4566 0.6678 0.2772 0.3695 0.4546 0.4539 0.4369 0.5071 0.51 0.66 0.44 0.56 0.43 rs6440589 . . Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150816.2|RCV000407920.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4449 0.6740 0.2933 0.4016 0.3650 0.4632 0.4545 0.4380 0.5084 0.5134 0.6603 0.3091 0.3867 0.3676 0.4567 0.4727 0.4857 hom 2515.43 84 3 148872987 . G A 2515.43 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9700;MQ=58.72;MQ0=0;QD=29.95;VQSLOD=8.8326;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2548,208,0 3 148881673 148881673 C T exonic HPS3 synonymous SNV HPS3:NM_001308258:exon13:c.C2031T:p.H677H,HPS3:NM_032383:exon14:c.C2526T:p.H842H 0.16 0.014 0.14 0.27 0.18 0.21 0.1870 0.0427 0.1234 0.2843 0.2476 0.1980 0.1823 0.2019 0.14 0.046 0.19 0.087 0.16 rs3732557 COSM5486994 1(large_intestine) Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150817.2|RCV000379483.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1865 0.0394 0.1256 0.1067 0.2779 0.2535 0.2006 0.1670 0.2045 0.1739 0.0434 0.1268 0.1258 0.2754 0.2427 0.2240 0.2106 het 748.46 96 3 148881673 . C T 748.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.847;DP=96;Dels=0.00;FS=2.820;HRun=0;HaplotypeScore=2.4708;MQ=58.49;MQ0=0;MQRankSum=0.632;QD=7.80;ReadPosRankSum=-0.563;VQSLOD=5.4847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,34:96:99:778,0,1458 3 149093238 149093238 A G exonic TM4SF1 synonymous SNV TM4SF1:NM_014220:exon3:c.T405C:p.T135T 0.89 0.96 0.92 0.86 0.84 0.87 0.8778 0.9549 0.9109 0.8801 0.9214 0.8622 0.8822 0.8498 0.89 0.95 0.86 0.91 0.8 rs4771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8779 0.9566 0.9079 0.8561 0.8787 0.9209 0.8591 0.8719 0.8511 0.8994 0.9550 0.8971 0.8841 0.8637 0.9219 0.8672 0.8837 hom 3644.03 119 3 149093238 . A G 3644.03 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5983;MQ=60.00;MQ0=0;QD=30.62;VQSLOD=9.0306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3643,301,0 3 149192676 149192676 G A exonic TM4SF4 synonymous SNV TM4SF4:NM_004617:exon1:c.G12A:p.G4G 0.19 0.051 0.36 0.021 0.41 0.2 0.3106 0.0952 0.3239 0.0199 0.3322 0.3958 0.3616 0.2256 0.3 0.099 0.39 0.15 . rs12488126 COSM4157358 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3156 0.0918 0.3336 0.3631 0.0180 0.3364 0.4001 0.3666 0.2282 0.2805 0.1015 0.3325 0.3874 0.0185 0.3339 0.3933 0.3180 het 725.70 66 3 149192676 . G A 725.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.251;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=57.93;MQ0=0;MQRankSum=1.105;QD=11.00;ReadPosRankSum=-0.617;VQSLOD=6.1156;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:756,0,836 3 149193684 149193684 T C exonic TM4SF4 synonymous SNV TM4SF4:NM_004617:exon2:c.T249C:p.C83C 0.23 0.23 0.3 0.07 0.4 0.17 0.3611 0.2916 0.3272 0.0835 0.4207 0.4303 0.3889 0.2477 0.37 0.26 0.42 0.24 . rs1802837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3388 0.2623 0.3056 0.3612 0.0723 0.3936 0.4179 0.3529 0.2266 0.3478 0.2636 0.3182 0.3444 0.0562 0.3944 0.4186 0.3599 het 226.72 17 3 149193684 . T C 226.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.049;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.927;QD=13.34;ReadPosRankSum=-1.220;VQSLOD=11.4075;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,10:17:99:257,0,152 3 149459341 149459341 A G exonic COMMD2 synonymous SNV COMMD2:NM_016094:exon5:c.T567C:p.N189N 0.78 0.97 0.6 0.82 0.67 0.72 0.7031 0.9272 0.5206 0.7966 0.6354 0.6873 0.6938 0.7318 0.77 0.92 0.69 0.84 0.67 rs7633238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6909 0.9319 0.5270 0.7563 0.7989 0.6388 0.6831 0.6854 0.7353 0.7401 0.9195 0.5692 0.7517 0.7978 0.6226 0.6699 0.6806 hom 3080.51 97 3 149459341 . A G 3080.51 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.38;MQ0=0;QD=31.76;VQSLOD=8.8362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3114,241,0 3 149459413 149459413 C T exonic COMMD2 synonymous SNV COMMD2:NM_016094:exon5:c.G495A:p.L165L 0.28 0.61 0.14 0.26 0.079 0.17 0.1433 0.5301 0.1547 0.2486 0.0523 0.0796 0.1156 0.1322 0.23 0.52 0.081 0.38 0.09 rs11549572 COSM5653982 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1352 0.5346 0.1495 0.1221 0.2449 0.0570 0.0779 0.1134 0.1318 0.2111 0.5238 0.1595 0.1167 0.2460 0.0550 0.0745 0.1010 het 1688.55 143 3 149459413 . C T 1688.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.275;DP=143;Dels=0.00;FS=1.335;HRun=0;HaplotypeScore=9.5553;MQ=59.30;MQ0=0;MQRankSum=-0.443;QD=11.81;ReadPosRankSum=0.986;VQSLOD=3.9310;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,66:143:99:1719,0,2220 3 149468530 149468530 T G exonic COMMD2 nonsynonymous SNV COMMD2:NM_016094:exon4:c.A337C:p.I113L 0.24 0.045 0.27 0.25 0.41 0.3 0.3531 0.0970 0.1973 0.2368 0.3676 0.4341 0.3645 0.3511 0.32 0.11 0.42 0.15 0.33 rs9843784 COSM3759825 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.16 0.237 T 0.016 0.161 B 0.011 0.145 B 0.000 0.629 D 0.017 0.400 P 2.1 0.585 M 3.07 0.086 T -1.02 0.268 N 0.141 0.165 -0.913 0.465 T 0.000 0.000 T . . . 2.176 0.323 17.35 0.972 0.322 0.882 0.477 D c -0.296 -0.173 1.000 0.489 0.732 0.924 0 2.7 0.309 2.380 0.437 1.061 0.807 0.997 0.399 0.959 0.439 11.807 0.512 . ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4|ENSG00000114744.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3518 0.0957 0.2110 0.4730 0.2434 0.3734 0.4301 0.3745 0.3487 0.3119 0.0971 0.2231 0.5099 0.2528 0.3610 0.4280 0.3885 het 2346.60 235 3 149468530 . T G 2346.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.627;DP=235;Dels=0.00;FS=4.518;HRun=0;HaplotypeScore=5.9081;MQ=58.67;MQ0=0;MQRankSum=0.075;QD=9.99;ReadPosRankSum=0.005;VQSLOD=4.8293;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,99:235:99:2377,0,3371 3 150128154 150128154 T C exonic TSC22D2 synonymous SNV TSC22D2:NM_001303264:exon1:c.T1017C:p.P339P,TSC22D2:NM_014779:exon1:c.T1017C:p.P339P 0.085 0.041 0.088 0.032 0.17 0.11 0.1883 0.0928 0.0840 0.0390 0.1927 0.2440 0.1732 0.1619 0.12 0.052 0.15 0.043 0.09 rs61734437 COSM1419887 10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1374 0.0615 0.0679 0.0591 0.0263 0.1308 0.2024 0.1344 0.1327 0.1396 0.0674 0.0885 0.0795 0.0272 0.1332 0.1984 0.1538 het 240.81 27 3 150128154 . T C 240.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.577;DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.126;QD=8.92;ReadPosRankSum=1.180;VQSLOD=11.1288;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,10:27:99:271,0,483 3 150128484 150128484 C A exonic TSC22D2 synonymous SNV TSC22D2:NM_001303264:exon1:c.C1347A:p.V449V,TSC22D2:NM_014779:exon1:c.C1347A:p.V449V 0.13 0.19 0.11 0.032 0.17 0.1 0.2575 0.3372 0.1910 0.0778 0.2850 0.3206 0.1983 0.1628 0.19 0.19 0.19 0.12 0.066 rs3749400 COSM3749823 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1475 0.2061 0.0778 0.0616 0.0264 0.1333 0.2070 0.1369 0.1374 0.1780 0.2018 0.0969 0.0795 0.0266 0.1333 0.1988 0.1578 het 121.96 14 3 150128484 . C A 121.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=0.101;QD=8.71;ReadPosRankSum=-2.627;VQSLOD=4.7104;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:152,0,195 3 150128994 150128994 T G exonic TSC22D2 synonymous SNV TSC22D2:NM_001303264:exon1:c.T1857G:p.P619P,TSC22D2:NM_014779:exon1:c.T1857G:p.P619P 0.083 0.039 0.088 0.032 0.17 0.098 0.1476 0.0676 0.0637 0.0277 0.1289 0.1972 0.1269 0.1271 0.16 0.071 0.2 0.087 0.11 rs34647320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1425 0.0649 0.0693 0.0604 0.0270 0.1333 0.2057 0.1360 0.1304 0.1390 0.0660 0.0887 0.0795 0.0271 0.1331 0.1979 0.1538 het 884.20 69 3 150128994 . T G 884.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.050;DP=69;Dels=0.00;FS=0.939;HRun=1;HaplotypeScore=3.2418;MQ=58.57;MQ0=0;MQRankSum=1.974;QD=12.81;ReadPosRankSum=0.618;VQSLOD=5.4553;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,34:69:99:914,0,907 3 150280445 150280445 C G exonic EIF2A nonsynonymous SNV EIF2A:NM_001319043:exon3:c.C215G:p.T72S,EIF2A:NM_001319044:exon4:c.C290G:p.T97S,EIF2A:NM_001319045:exon4:c.C275G:p.T92S,EIF2A:NM_032025:exon4:c.C290G:p.T97S 0.35 0.16 0.36 0.49 0.36 0.47 0.3893 0.1845 0.4023 0.4970 0.3696 0.3845 0.3689 0.4681 0.29 0.17 0.35 0.34 . rs1132979 COSM4002486;COSM149497 1(stomach);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.5 0.104 T 0.007 0.131 B 0.007 0.121 B 0.001 0.400 N 0.005 0.810 P 0.25 0.098 N 0.9 0.540 T -0.83 0.338 N 0.017 0.126 -0.940 0.426 T 0.000 0.000 T . . . 2.513 0.363 19.55 0.971 0.320 0.935 0.580 D c -0.252 0.017 1.000 0.448 0.732 0.924 0 5.86 0.939 2.771 0.471 0.892 0.403 0.998 0.411 0.991 0.552 20.189 0.982 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain ENSG00000198843.8 Cells_Transformed_fibroblasts 0.3672 0.1659 0.3679 0.3595 0.4772 0.3495 0.3581 0.3850 0.4490 0.3133 0.1705 0.3825 0.3742 0.4547 0.3579 0.3636 0.3473 het 454.54 40 3 150280445 . C G 454.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.085;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7329;MQ=58.48;MQ0=0;MQRankSum=0.921;QD=11.36;ReadPosRankSum=-0.027;VQSLOD=5.4583;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,19:40:99:485,0,549 3 150421419 150421419 G A exonic ERICH6 synonymous SNV ERICH6:NM_152394:exon1:c.C267T:p.D89D 0.32 0.22 0.46 0.36 0.46 0.19 0.4131 0.2504 0.4123 0.3740 0.5282 0.4845 0.4447 0.2009 0.41 0.26 0.48 0.38 0.53 rs17281287 COSM1180124 1(liver);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4193 0.2482 0.4276 0.4731 0.3714 0.5286 0.4796 0.4528 0.2015 0.4212 0.2631 0.4460 0.4934 0.3532 0.5453 0.4870 0.4477 hom 2265.52 74 3 150421419 . G A 2265.52 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.62;VQSLOD=13.2763;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2299,181,0 3 150917000 150917000 T G exonic GPR171 synonymous SNV GPR171:NM_013308:exon3:c.A174C:p.T58T 0.12 0.22 0.085 0.07 0.067 0.11 0.0840 0.2066 0.0436 0.0816 0.0275 0.0719 0.0760 0.1083 0.12 0.2 0.071 0.098 0.025 rs3773614 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0807 0.2107 0.0485 0.1187 0.0788 0.0277 0.0714 0.0790 0.1122 0.0977 0.1938 0.0501 0.1093 0.0821 0.0240 0.0660 0.0531 het 1182.25 95 3 150917000 . T G 1182.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.270;DP=95;Dels=0.00;FS=2.845;HRun=1;HaplotypeScore=1.8519;MQ=59.15;MQ0=0;MQRankSum=-1.241;QD=12.44;ReadPosRankSum=0.280;VQSLOD=6.1393;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,45:95:99:1212,0,1351 3 151012497 151012497 T C exonic GPR87 synonymous SNV GPR87:NM_023915:exon3:c.A537G:p.L179L 0.8 0.87 0.86 0.72 0.78 0.79 0.7921 0.8353 0.8517 0.7099 0.7700 0.7829 0.8051 0.8111 0.8 0.84 0.78 0.74 0.8 rs2242353 COSM5033856 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7933 0.8360 0.8477 0.8386 0.7163 0.7703 0.7780 0.7941 0.8134 0.7890 0.8347 0.8150 0.7980 0.7274 0.7736 0.7718 0.7778 hom 7242.65 225 3 151012497 . T C 7242.65 Mask AC=2;AF=1.00;AN=2;DP=225;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6229;MQ=59.24;MQ0=0;QD=32.19;VQSLOD=9.7458;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:7242,560,0 3 151046308 151046308 G A exonic P2RY13 nonsynonymous SNV P2RY13:NM_176894:exon2:c.C536T:p.T179M 0.9 0.97 0.91 0.85 0.83 0.9 0.8636 0.9510 0.8931 0.8397 0.8441 0.8405 0.8866 0.9007 0.87 0.95 0.83 0.87 0.84 rs1466684 COSM5653985;COSM5653984 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.000 0.523 N 0.000 0.588 P -3.165 0.000 N 1.15 0.382 T 3.17 0.001 N 0.035 0.015 -0.950 0.409 T 0.000 0.000 T . . . -0.155 0.080 1.356 0.709 0.091 0.058 0.116 N c -1.048 -0.816 1.000 0.747 0.526 0.212 0 4.28 0.500 5.038 0.637 0.244 0.267 0.863 0.304 0.960 0.441 10.080 0.414 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8618 0.9528 0.8895 0.8844 0.8427 0.8412 0.8346 0.8611 0.9029 0.8676 0.9528 0.8708 0.8676 0.8420 0.8357 0.8292 0.8504 hom 2545.09 82 3 151046308 . G A 2545.09 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7784;MQ=58.69;MQ0=0;QD=31.04;VQSLOD=8.9544;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2578,202,0 3 151056598 151056598 A C exonic P2RY12 synonymous SNV P2RY12:NM_176876:exon2:c.T36G:p.G12G,P2RY12:NM_022788:exon3:c.T36G:p.G12G 0.91 0.99 0.92 0.9 0.83 0.9 0.8703 0.9677 0.8972 0.8853 0.8452 0.8438 0.8888 0.8982 0.88 0.96 0.84 0.89 0.84 rs6809699 COSM5653986 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000245981.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8681 0.9689 0.8940 0.8849 0.8888 0.8423 0.8377 0.8665 0.9018 0.8752 0.9675 0.8747 0.8676 0.8846 0.8364 0.8312 0.8523 hom 965.90 34 3 151056598 . A C 965.90 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=58.76;MQ0=0;QD=28.41;VQSLOD=7.1355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:34:81.22:999,81,0 3 151056616 151056616 G A exonic P2RY12 synonymous SNV P2RY12:NM_176876:exon2:c.C18T:p.N6N,P2RY12:NM_022788:exon3:c.C18T:p.N6N 0.24 0.17 0.28 0.21 0.32 0.27 0.2930 0.1862 0.3272 0.2326 0.3677 0.3037 0.3245 0.2936 0.27 0.19 0.32 0.27 0.24 rs6785930 . . Benign not_specified RCV000242918.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2954 0.1825 0.3227 0.1967 0.2288 0.3685 0.3071 0.3075 0.2935 0.2768 0.1829 0.2912 0.1556 0.2177 0.3840 0.3120 0.3136 hom 1046.87 36 3 151056616 . G A 1046.87 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.18;MQ0=0;QD=29.08;VQSLOD=8.3882;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:87.26:1080,87,0 3 151090424 151090424 G A exonic MED12L nonsynonymous SNV MED12L:NM_053002:exon25:c.G3629A:p.R1210Q 0.2 0.029 0.31 0.14 0.38 0.25 0.3060 0.0775 0.2732 0.1388 0.3989 0.3695 0.3282 0.2653 0.28 0.082 0.38 0.14 0.3 rs3732765 COSM149499 1(stomach);10(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.584 0.059 T 0.828 0.441 P 0.403 0.428 B 0.000 0.559 D 1.000 0.476 P 0.69 0.170 N 0.44 0.599 T -0.25 0.110 N 0.106 0.112 -0.973 0.365 T 0.000 0.000 T . . . 2.520 0.364 19.60 0.962 0.285 0.801 0.395 D c 0.062 0.195 1.000 0.747 0.615 0.372 0 4.95 0.648 3.955 0.562 1.048 0.713 0.642 0.279 0.928 0.402 11.070 0.470 . ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9|ENSG00000169313.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid 0.3107 0.0754 0.2793 0.3174 0.1399 0.4022 0.3720 0.3328 0.2638 0.2840 0.0891 0.2852 0.3079 0.1337 0.4017 0.3803 0.3704 het 1697.66 144 3 151090424 . G A 1697.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.191;DP=144;Dels=0.00;FS=3.045;HRun=1;HaplotypeScore=2.9453;MQ=58.90;MQ0=0;MQRankSum=-1.453;QD=11.79;ReadPosRankSum=-0.230;VQSLOD=5.4619;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,66:144:99:1728,0,1879 3 151112568 151112568 G A exonic MED12L synonymous SNV MED12L:NM_053002:exon37:c.G5628A:p.S1876S 0.3 0.37 0.22 0.28 0.2 0.38 0.2577 0.3473 0.2920 0.2915 0.2255 0.2101 0.2494 0.3653 0.26 0.35 0.21 0.32 0.25 rs3732768 COSM3759830 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2544 0.3524 0.2857 0.1476 0.2868 0.2248 0.2115 0.2282 0.3683 0.2539 0.3463 0.2297 0.1325 0.2815 0.2262 0.2107 0.2035 het 2955.62 194 3 151112568 . G A 2955.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.476;DP=194;Dels=0.00;FS=2.649;HRun=0;HaplotypeScore=4.1355;MQ=59.69;MQ0=0;MQRankSum=0.334;QD=15.24;ReadPosRankSum=-0.608;VQSLOD=5.7257;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,111:194:99:2986,0,2328 3 151154666 151154666 T C exonic IGSF10 synonymous SNV IGSF10:NM_001178145:exon2:c.A1764G:p.T588T,IGSF10:NM_001178146:exon2:c.A1620G:p.T540T,IGSF10:NM_178822:exon6:c.A7683G:p.T2561T 0.85 0.86 0.83 0.9 0.85 0.81 0.8312 0.8454 0.7299 0.8995 0.7811 0.8467 0.8234 0.8153 0.85 0.84 0.85 0.81 0.84 rs2172250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8279 0.8443 0.7431 0.9190 0.9045 0.7781 0.8437 0.8411 0.8166 0.8392 0.8528 0.7632 0.9437 0.9244 0.7772 0.8402 0.8156 hom 2774.64 85 3 151154666 . T C 2774.64 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6498;MQ=60.00;MQ0=0;QD=32.64;VQSLOD=8.8780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2808,241,0 3 151155620 151155620 G A exonic IGSF10 synonymous SNV IGSF10:NM_001178145:exon2:c.C810T:p.N270N,IGSF10:NM_001178146:exon2:c.C666T:p.N222N,IGSF10:NM_178822:exon6:c.C6729T:p.N2243N 0.59 0.5 0.59 0.52 0.76 0.62 0.6761 0.5302 0.4623 0.4961 0.6697 0.7659 0.6751 0.6514 0.68 0.53 0.76 0.49 0.75 rs6781302 COSM5008427 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6734 0.5301 0.4841 0.8377 0.5004 0.6746 0.7650 0.7042 0.6568 0.6723 0.5408 0.5517 0.8633 0.5248 0.6767 0.7637 0.7122 hom 5382.30 182 3 151155620 . G A 5382.30 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.713;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7396;MQ=59.30;MQ0=0;MQRankSum=-1.732;QD=29.57;ReadPosRankSum=0.780;VQSLOD=8.2323;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,181:182:99:5381,427,0 3 151165678 151165678 T C exonic IGSF10 synonymous SNV IGSF10:NM_178822:exon4:c.A2091G:p.Q697Q 0.79 0.82 0.77 0.76 0.77 0.79 0.7635 0.8166 0.6981 0.7737 0.6926 0.7641 0.7676 0.7960 0.78 0.81 0.76 0.77 0.84 rs9871952 COSM3759832 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7594 0.8141 0.7054 0.8912 0.7707 0.6906 0.7574 0.7768 0.7967 0.7590 0.8144 0.7124 0.9073 0.7798 0.6812 0.7453 0.7127 hom 3086.64 93 3 151165678 . T C 3086.64 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.19;VQSLOD=13.9170;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3120,241,0 3 151166422 151166422 C T exonic IGSF10 synonymous SNV IGSF10:NM_178822:exon4:c.G1347A:p.Q449Q 0.71 0.71 0.71 0.74 0.74 0.66 0.7092 0.7072 0.6539 0.7359 0.6834 0.7276 0.7324 0.6701 0.72 0.7 0.72 0.66 0.79 rs6798252 COSM3759833 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7071 0.7036 0.6583 0.8401 0.7308 0.6838 0.7197 0.7277 0.6733 0.7054 0.7064 0.6599 0.8245 0.7389 0.6751 0.7111 0.6653 hom 5606.69 159 3 151166422 . C T 5606.69 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=35.26;VQSLOD=9.9373;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5606,448,0 3 151171439 151171439 A C exonic IGSF10 nonsynonymous SNV IGSF10:NM_178822:exon3:c.T448G:p.Y150D 0.73 0.69 0.71 0.74 0.74 0.76 0.7239 0.6944 0.6556 0.7407 0.6867 0.7348 0.7379 0.7516 0.71 0.69 0.73 0.67 0.7 rs7619322 COSM3759835 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.105 0.298 T 0.938 0.506 P 0.768 0.549 P 0.482 0.121 N 0.193 0.346 P -0.245 0.039 N 0.7 0.515 T -3.4 0.670 D 0.309 0.370 -0.915 0.463 T 0.000 0.000 T . . . 3.507 0.479 23.1 0.982 0.391 0.892 0.492 D c -0.337 -0.385 0.883 0.256 0.497 0.185 0 -2.47 0.060 2.408 0.440 1.199 0.960 1.000 0.715 0.993 0.574 0.667 0.008 Leucine-rich repeat domain\x2c L domain-like . . 0.7211 0.6878 0.6604 0.8597 0.7349 0.6859 0.7272 0.7365 0.7520 0.7063 0.6885 0.6575 0.8377 0.7426 0.6764 0.7209 0.6884 hom 3462.24 110 3 151171439 . A C 3462.24 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=59.58;MQ0=0;QD=31.47;VQSLOD=9.7622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3462,268,0 3 151171542 151171542 A G exonic IGSF10 synonymous SNV IGSF10:NM_178822:exon3:c.T345C:p.N115N 0.81 0.89 0.78 0.76 0.77 0.81 0.7738 0.8606 0.7041 0.7787 0.6979 0.7712 0.7648 0.8138 0.8 0.86 0.77 0.81 0.57 rs7621591 COSM3722149 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7690 0.8578 0.7158 0.9107 0.7753 0.6935 0.7638 0.7784 0.8115 0.7749 0.8538 0.7302 0.9305 0.7772 0.6844 0.7521 0.7301 hom 4159.49 149 3 151171542 . A G 4159.49 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8288;MQ=59.03;MQ0=0;QD=27.92;VQSLOD=8.2332;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4159,307,0 3 151463421 151463421 G T exonic AADACL2 nonsynonymous SNV AADACL2:NM_207365:exon4:c.G556T:p.A186S 0.71 0.82 0.65 0.62 0.67 0.72 0.6726 0.8052 0.6370 0.6303 0.6604 0.6543 0.6233 0.7192 0.7 0.8 0.64 0.62 0.69 rs1972977 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.006 0.112 B 0.024 0.263 N 1 0.090 P 0.375 0.121 N 0.26 0.593 T 1.29 0.010 N 0.093 0.092 -0.886 0.493 T 0.000 0.000 T . . . -2.206 0.006 0.001 0.162 0.004 0.003 0.014 N c -1.669 -1.676 0.000 0.066 0.487 0.133 0 -3.34 0.046 0.348 0.196 -0.717 0.036 0.738 0.288 0.001 0.043 18.971 0.927 Alpha/Beta hydrolase fold|Alpha/beta hydrolase fold-3 ENSG00000240602.3|ENSG00000250271.1|ENSG00000114771.9|ENSG00000152580.8 Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis 0.6663 0.8050 0.6226 0.6899 0.6240 0.6559 0.6535 0.6454 0.7186 0.7007 0.8086 0.6734 0.7450 0.6413 0.6552 0.6594 0.6414 hom 1879.04 58 3 151463421 . G T 1879.04 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7340;MQ=59.28;MQ0=0;QD=32.40;VQSLOD=9.7358;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1912,153,0 3 151545601 151545601 G A exonic AADAC nonsynonymous SNV AADAC:NM_001086:exon5:c.G841A:p.V281I 0.73 0.77 0.75 0.58 0.77 0.8 0.7582 0.7615 0.7437 0.5826 0.6598 0.7865 0.7654 0.7832 0.78 0.76 0.79 0.7 0.84 rs1803155 COSM3759837 2(large_intestine) . . . . . . . . . . . 0.026 0.469 D 0.721 0.404 P 0.242 0.370 B 0.000 0.629 N 0.000 0.537 P 2.255 0.644 M 0.35 0.580 T -0.92 0.247 N 0.063 0.052 -1.038 0.179 T 0.000 0.000 T . . . 4.046 0.543 23.7 0.995 0.664 0.925 0.557 D c 0.145 0.180 0.999 0.390 0.554 0.246 0 3.94 0.446 2.444 0.443 0.100 0.199 1.000 0.715 0.993 0.574 12.925 0.575 Alpha/Beta hydrolase fold ENSG00000114771.9|ENSG00000114771.9 Adipose_Subcutaneous|Esophagus_Mucosa 0.7534 0.7609 0.7437 0.8156 0.5893 0.6604 0.7853 0.7758 0.7804 0.7506 0.7603 0.7560 0.8278 0.6214 0.6580 0.7777 0.7658 hom 1295.01 45 3 151545601 . G A 1295.01 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=28.78;VQSLOD=8.6428;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1328,102,0 3 153839866 153839866 G C exonic ARHGEF26 nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.G85C:p.V29L,ARHGEF26:NM_001251963:exon2:c.G85C:p.V29L,ARHGEF26:NM_015595:exon2:c.G85C:p.V29L 0.96 0.99 0.94 1. 0.87 0.98 0.9111 0.9688 0.9643 0.9992 0.8273 0.8752 0.8981 0.9702 0.9 0.96 0.87 0.94 . rs12493885 COSM4157375;COSM4157373;COSM4157372;COSM4157374 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.813 0.068 N 1 0.090 P -1.245 0.008 N 0.54 0.599 T 0.11 0.057 N 0.006 0.005 -0.975 0.361 T 0.000 0.000 T . . . 0.727 0.163 9.003 0.686 0.084 0.017 0.054 N c -1.218 -1.064 1.000 0.747 0.652 0.477 0 1.98 0.252 -0.574 0.059 -0.391 0.064 0.000 0.063 0.966 0.452 4.661 0.119 . ENSG00000114790.8|ENSG00000114790.8|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000243069.3|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000243069.3|ENSG00000114790.8|ENSG00000174953.9 Adipose_Subcutaneous|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Spleen|Stomach|Thyroid|Thyroid|Thyroid 0.9095 0.9695 0.9602 0.9449 0.9994 0.8191 0.8702 0.9003 0.9710 0.9035 0.9664 0.9642 0.9437 0.9988 0.8138 0.8751 0.8753 hom 618.37 24 3 153839866 . G C 618.37 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7645;MQ=58.04;MQ0=0;QD=25.77;VQSLOD=5.5528;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:24:54.14:651,54,0 3 153839960 153839960 T C exonic ARHGEF26 nonsynonymous SNV ARHGEF26:NM_001251962:exon2:c.T179C:p.L60P,ARHGEF26:NM_001251963:exon2:c.T179C:p.L60P,ARHGEF26:NM_015595:exon2:c.T179C:p.L60P 0.95 0.98 0.93 0.99 0.86 0.96 0.9079 0.9685 0.9628 0.9990 0.8301 0.8704 0.8923 0.9686 0.84 0.95 0.79 0.39 . rs12497267 COSM4157377;COSM4157379;COSM4157378;COSM4157380 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.183 0.170 N 1 0.090 P -1.7 0.004 N 0.5 0.604 T 1.71 0.008 N 0.01 0.022 -0.992 0.321 T 0.000 0.000 T . . . 0.009 0.094 2.669 0.489 0.041 0.002 0.013 N c -1.401 -1.314 1.000 0.747 0.726 0.872 0 3.62 0.405 1.657 0.368 -0.419 0.060 0.009 0.180 0.000 0.016 10.265 0.424 . ENSG00000114790.8|ENSG00000114790.8|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000174953.9|ENSG00000243069.3|ENSG00000174953.9|ENSG00000243069.3 Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Nerve_Tibial|Spleen|Thyroid 0.9083 0.9695 0.9593 0.9445 0.9994 0.8183 0.8672 0.9006 0.9705 0.9031 0.9664 0.9651 0.9433 0.9988 0.8130 0.8744 0.8763 hom 271.18 10 3 153839960 . T C 271.18 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=27.12;VQSLOD=6.9446;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:304,24,0 3 154018887 154018887 G C exonic DHX36 nonsynonymous SNV DHX36:NM_001114397:exon10:c.C1247G:p.S416C,DHX36:NM_020865:exon10:c.C1247G:p.S416C 0.41 0.39 0.4 0.48 0.41 0.38 0.4018 0.3553 0.3965 0.4629 0.4319 0.4064 0.3880 0.3726 0.39 0.36 0.4 0.38 0.45 rs9438 COSM3759840;COSM3759841 1(large_intestine) . . . . . . . . . . . 0.122 0.341 T 0.007 0.550 B 0.015 0.523 B 0.000 0.843 D 0.044 0.379 P 0.915 0.234 L 2.49 0.145 T -2.37 0.522 N 0.136 0.313 -0.816 0.542 T 0.000 0.000 T . . . 4.359 0.584 24.1 0.924 0.213 0.979 0.779 D c 0.226 0.380 1.000 0.747 0.732 0.924 0 5.89 0.947 5.000 0.635 1.048 0.713 1.000 0.715 0.901 0.381 16.498 0.840 . ENSG00000174953.9 Colon_Transverse 0.4058 0.3575 0.3996 0.4442 0.4627 0.4294 0.4046 0.4160 0.3760 0.3995 0.3641 0.4462 0.39 0.4358 0.4178 0.4089 0.4093 hom 3087.82 103 3 154018887 . G C 3087.82 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=29.98;VQSLOD=7.7920;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3121,232,0 3 154146922 154146922 A G exonic GPR149 synonymous SNV GPR149:NM_001038705:exon1:c.T483C:p.S161S 0.16 0.11 0.2 0.25 0.14 0.14 0.1606 0.1172 0.2141 0.2449 0.1032 0.1537 0.1318 0.1561 0.13 0.12 0.14 0.13 0.16 rs34792862 COSM3759842 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1614 0.1111 0.2136 0.1976 0.2424 0.1068 0.1498 0.1576 0.1540 0.1333 0.1162 0.2285 0.1821 0.2234 0.1072 0.1324 0.1466 het 702.41 49 3 154146922 . A G 702.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.630;DP=49;Dels=0.00;FS=1.098;HRun=1;HaplotypeScore=0.9989;MQ=59.53;MQ0=0;MQRankSum=0.370;QD=14.33;ReadPosRankSum=0.710;VQSLOD=6.0109;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,25:49:99:732,0,612 3 155241740 155241740 A G exonic PLCH1 synonymous SNV PLCH1:NM_001130960:exon10:c.T1380C:p.S460S,PLCH1:NM_001130961:exon10:c.T1380C:p.S460S,PLCH1:NM_001349250:exon10:c.T1380C:p.S460S,PLCH1:NM_014996:exon10:c.T1416C:p.S472S,PLCH1:NM_001349251:exon11:c.T1416C:p.S472S,PLCH1:NM_001349252:exon11:c.T1416C:p.S472S 0.77 0.69 0.78 0.93 0.7 0.79 0.7457 0.7096 0.7999 0.9475 0.7220 0.7147 0.7346 0.7600 0.72 0.71 0.73 0.78 0.69 rs9840234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7488 0.7077 0.7897 0.6825 0.9474 0.7246 0.7196 0.7505 0.7599 0.7268 0.7143 0.7614 0.6921 0.9468 0.7265 0.7104 0.7071 het 2720.79 248 3 155241740 . A G 2720.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.585;DP=248;DS;Dels=0.00;FS=0.465;HRun=1;HaplotypeScore=5.4166;MQ=59.26;MQ0=0;MQRankSum=-0.117;QD=10.97;ReadPosRankSum=-1.303;VQSLOD=5.1340;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,112:248:99:2751,0,3528 3 155314034 155314034 A G exonic PLCH1 synonymous SNV PLCH1:NM_001130960:exon2:c.T177C:p.S59S,PLCH1:NM_001130961:exon2:c.T177C:p.S59S,PLCH1:NM_001349250:exon2:c.T177C:p.S59S,PLCH1:NM_014996:exon2:c.T213C:p.S71S,PLCH1:NM_001349251:exon3:c.T213C:p.S71S,PLCH1:NM_001349252:exon3:c.T213C:p.S71S 0.46 0.4 0.55 0.28 0.74 0.37 0.6051 0.4583 0.5421 0.2904 0.6969 0.7084 0.6421 0.4505 0.63 0.47 0.72 0.39 0.66 rs359569 COSM1130306 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6120 0.4569 0.5555 0.7358 0.2907 0.6937 0.7141 0.6757 0.4491 0.6159 0.4670 0.5752 0.7517 0.2824 0.6921 0.7174 0.6605 het 2625.80 212 3 155314034 . A G 2625.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.647;DP=212;DS;Dels=0.00;FS=0.526;HRun=0;HaplotypeScore=8.7507;MQ=59.30;MQ0=0;MQRankSum=1.572;QD=12.39;ReadPosRankSum=0.370;VQSLOD=4.4834;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,96:212:99:2656,0,3060 3 155481609 155481609 G A exonic C3orf33 synonymous SNV C3orf33:NM_001308229:exon5:c.C582T:p.Y194Y,C3orf33:NM_173657:exon6:c.C453T:p.Y151Y 0.47 0.51 0.48 0.32 0.64 0.39 0.5840 0.5502 0.5227 0.3681 0.6465 0.6491 0.5939 0.4612 0.6 0.53 0.63 0.43 . rs7653384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5612 0.5346 0.4939 0.7032 0.3363 0.6223 0.6232 0.5985 0.4322 0.5833 0.5254 0.5012 0.7053 0.3143 0.6260 0.6362 0.6117 hom 672.80 25 3 155481609 . G A 672.80 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;QD=26.91;VQSLOD=7.8996;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:54.17:706,54,0 3 155485302 155485302 C T exonic C3orf33 nonsynonymous SNV C3orf33:NM_001308229:exon4:c.G479A:p.S160N,C3orf33:NM_173657:exon5:c.G350A:p.S117N 0.84 0.83 0.85 0.91 0.77 0.84 0.8240 0.8291 0.8901 0.9145 0.8108 0.7980 0.7993 0.8385 0.79 0.83 0.78 0.88 . rs358733 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.353 N 1 0.090 P -2.24 0.001 N 2.01 0.213 T 1.08 0.014 N 0.011 0.001 -0.985 0.340 T 0.000 0.000 T . . . 0.947 0.184 10.35 0.165 0.004 0.026 0.070 N c -0.917 -0.637 0.103 0.165 0.615 0.372 0 4.05 0.462 3.201 0.505 0.119 0.209 1.000 0.715 0.996 0.625 7.139 0.246 Staphylococcal nuclease (SNase-like)\x2c OB-fold ENSG00000174928.11 Cells_Transformed_fibroblasts 0.8187 0.8302 0.8898 0.8498 0.9123 0.7987 0.7829 0.8146 0.8320 0.8066 0.8146 0.8759 0.8444 0.9100 0.8020 0.7859 0.8258 hom 508.68 17 3 155485302 . C T 508.68 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.92;VQSLOD=13.5408;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.13:542,42,0 3 156413682 156413682 A C exonic TIPARP nonsynonymous SNV TIPARP:NM_001184717:exon4:c.A1115C:p.N372T,TIPARP:NM_001184718:exon4:c.A1115C:p.N372T,TIPARP:NM_015508:exon4:c.A1115C:p.N372T 0.001 . 0.0058 0.001 . . 0.0005 0.0003 0.0004 0.0003 0 0.0008 0 0 0.0012 . 0.0017 . . rs143409745 . . . . . . . . . . . . . 0.545 0.067 T 0.031 0.188 B 0.006 0.112 B 0.000 0.559 D 0.989 0.408 D 1.39 0.351 L 1.58 0.291 T 0.49 0.043 N 0.083 0.109 -1.092 0.052 T 0.061 0.253 T 0.007 0.180 T 0.849 0.175 9.763 0.964 0.292 0.846 0.434 D c -0.108 -0.004 1.000 0.439 0.707 0.730 0 2.75 0.313 1.844 0.387 1.028 0.649 1.000 0.715 0.998 0.697 9.706 0.392 WWE domain . . 0.0006 0.0004 0.0004 0 0.0003 0 0.0010 0.0002 0 0.0005 0 0.0015 0 0.0006 0 0.0010 0 het 724.85 60 3 156413682 . A C 724.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.811;DP=60;Dels=0.00;FS=1.028;HRun=1;HaplotypeScore=0.0000;MQ=57.31;MQ0=0;MQRankSum=0.651;QD=12.08;ReadPosRankSum=-0.104;VQSLOD=3.2027;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,29:60:99:755,0,799 3 157155314 157155314 C A exonic PTX3 nonsynonymous SNV PTX3:NM_002852:exon2:c.C143A:p.A48D 0.71 0.74 0.72 0.76 0.6 0.75 0.6566 0.7332 0.7194 0.7911 0.6674 0.6007 0.6011 0.7117 0.63 0.74 0.58 0.66 0.53 rs3816527 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.411 0.130 N 0.000 0.810 P -2.67 0.000 N 3.26 0.067 T 1.91 0.005 N 0.043 0.023 -0.988 0.330 T 0.000 0.000 T . . . 1.381 0.229 12.69 0.822 0.136 0.152 0.186 N c -1.061 -0.797 1.000 0.747 0.447 0.083 0 3.48 0.388 1.860 0.388 -0.796 0.032 1.000 0.715 0.227 0.223 11.441 0.492 . . . 0.6358 0.7254 0.7033 0.5259 0.7854 0.6351 0.5735 0.6007 0.6982 0.6520 0.7379 0.7002 0.5596 0.7794 0.6350 0.5935 0.6178 hom 1187.26 42 3 157155314 . C A 1187.26 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.27;VQSLOD=12.7043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:96.30:1220,96,0 3 158320597 158320597 T C exonic MLF1 synonymous SNV MLF1:NM_001130156:exon6:c.T495C:p.S165S,MLF1:NM_001195433:exon6:c.T366C:p.S122S,MLF1:NM_022443:exon6:c.T570C:p.S190S,MLF1:NM_001130157:exon7:c.T495C:p.S165S,MLF1:NM_001195432:exon8:c.T663C:p.S221S,MLF1:NM_001195434:exon8:c.T540C:p.S180S 0.58 0.76 0.53 0.38 0.54 0.6 0.5453 0.7174 0.5726 0.3254 0.5103 0.5335 0.5532 0.5937 0.6 0.71 0.54 0.53 0.49 rs4875 COSM4002503;COSM4002504 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5404 0.7227 0.5686 0.5207 0.3224 0.5147 0.5338 0.5259 0.5925 0.5732 0.7265 0.5442 0.5464 0.3068 0.5278 0.5294 0.5133 hom 1286.57 45 3 158320597 . T C 1286.57 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.59;VQSLOD=14.0351;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1320,102,0 3 158366900 158366900 G A exonic GFM1 nonsynonymous SNV GFM1:NM_001308164:exon5:c.G643A:p.V215I,GFM1:NM_001308166:exon5:c.G643A:p.V215I,GFM1:NM_024996:exon5:c.G643A:p.V215I 0.58 0.77 0.53 0.38 0.54 0.61 0.5467 0.7238 0.5708 0.3250 0.5109 0.5329 0.5540 0.6047 0.6 0.71 0.54 0.54 0.52 rs2303909 COSM4002505 1(haematopoietic_and_lymphoid_tissue);1(kidney) Benign Combined_oxidative_phosphorylation_deficiency RCV000334159.1 MedGen:Orphanet CN201731:ORPHA2443 . . . . . . 0.45 0.106 T 0.002 0.126 B 0.013 0.267 B 0.000 0.843 N 0.999 0.214 P 0.22 0.096 N -0.77 0.735 T -0.45 0.148 N 0.032 0.064 -0.935 0.434 T 0.000 0.000 T . . . 1.586 0.252 13.77 0.908 0.195 0.252 0.224 N c -0.679 -0.485 0.966 0.288 0.732 0.924 0 3.69 0.413 3.300 0.513 0.244 0.267 1.000 0.715 0.989 0.536 9.723 0.393 P-loop containing nucleoside triphosphate hydrolase|Small GTP-binding protein domain|Transcription factor\x2c GTP-binding domain ENSG00000118855.14|ENSG00000168827.10|ENSG00000272087.1|ENSG00000168827.10|ENSG00000243150.1|ENSG00000178053.13|ENSG00000168827.10|ENSG00000272087.1|ENSG00000079257.3|ENSG00000168827.10|ENSG00000178053.13|ENSG00000168827.10|ENSG00000079257.3|ENSG00000178053.13|ENSG00000168827.10|ENSG00000178053.13|ENSG00000079257.3|ENSG00000178053.13|ENSG00000168827.10|ENSG00000168827.10|ENSG00000079257.3|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.5423 0.7285 0.5671 0.5214 0.3242 0.5149 0.5342 0.5279 0.6036 0.5756 0.7330 0.5408 0.5497 0.3094 0.5284 0.5298 0.5174 hom 4034.49 144 3 158366900 . G A 4034.49 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7552;MQ=59.58;MQ0=0;QD=28.02;VQSLOD=7.9431;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4034,307,0 3 158388780 158388780 T C exonic LXN nonsynonymous SNV LXN:NM_020169:exon2:c.A158G:p.H53R 0.58 0.75 0.53 0.38 0.54 0.61 0.5447 0.7115 0.5707 0.3253 0.5111 0.5325 0.5564 0.6051 0.59 0.7 0.54 0.53 0.36 rs8455 COSM4002506 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.418 0.099 T 0.001 0.067 B 0.001 0.040 B 0.445 0.126 N 0.000 0.588 P 0.665 0.163 N 1.9 0.235 T -1.92 0.446 N 0.03 0.011 -0.999 0.301 T 0.000 0.000 T . . . 0.236 0.117 5.050 0.854 0.153 0.386 0.258 N c -1.086 -0.974 1.000 0.420 0.722 0.854 0 -2.53 0.059 0.154 0.160 -1.455 0.011 0.889 0.309 0.853 0.356 12.057 0.527 . ENSG00000118855.14|ENSG00000168827.10|ENSG00000079257.3|ENSG00000272087.1|ENSG00000168827.10|ENSG00000243150.1|ENSG00000178053.13|ENSG00000168827.10|ENSG00000272087.1|ENSG00000079257.3|ENSG00000168827.10|ENSG00000178053.13|ENSG00000168827.10|ENSG00000079257.3|ENSG00000178053.13|ENSG00000168827.10|ENSG00000178053.13|ENSG00000079257.3|ENSG00000178053.13|ENSG00000168827.10|ENSG00000168827.10|ENSG00000079257.3|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10|ENSG00000168827.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.5152 0.6911 0.5174 0.4848 0.2911 0.5083 0.5150 0.4889 0.5761 0.5722 0.7217 0.5418 0.5497 0.3072 0.5281 0.5300 0.5143 hom 2544.91 88 3 158388780 . T C 2544.91 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.157;DP=88;Dels=0.00;FS=3.612;HRun=0;HaplotypeScore=1.9874;MQ=53.72;MQ0=0;MQRankSum=1.575;QD=28.92;ReadPosRankSum=-0.630;VQSLOD=3.8723;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,87:88:99:2578,180,0 3 158537443 158537443 A G exonic MFSD1 nonsynonymous SNV MFSD1:NM_001167903:exon7:c.A688G:p.I230V,MFSD1:NM_001289406:exon7:c.A367G:p.I123V,MFSD1:NM_001289407:exon8:c.A439G:p.I147V,MFSD1:NM_022736:exon8:c.A805G:p.I269V 0.56 0.72 0.53 0.37 0.61 0.5 0.5606 0.6751 0.5700 0.3829 0.5109 0.5787 0.5944 0.5221 0.6 0.67 0.56 0.5 0.47 rs3765083 COSM3759848;COSM3759847 4(thyroid);1(large_intestine) . . . . . . . . . . . 0.666 0.046 T 0.0 0.067 B 0.004 0.093 B 0.001 0.389 N 0.988 0.244 P 0.575 0.154 N 0.36 0.808 T -0.15 0.098 N 0.027 0.196 -0.955 0.401 T 0.000 0.000 T . . . -0.083 0.086 1.858 0.594 0.061 0.050 0.107 N c -1.114 -1.096 1.000 0.424 0.732 0.924 0 -2.1 0.068 -0.124 0.105 1.140 0.893 0.001 0.137 0.545 0.279 6.853 0.231 Major facilitator superfamily domain ENSG00000272247.1|ENSG00000118855.14|ENSG00000272247.1|ENSG00000272247.1|ENSG00000272247.1|ENSG00000118855.14|ENSG00000272247.1|ENSG00000178053.13|ENSG00000079257.3|ENSG00000272247.1|ENSG00000118855.14|ENSG00000272247.1|ENSG00000272247.1|ENSG00000272247.1|ENSG00000272247.1|ENSG00000272247.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5613 0.6745 0.5762 0.6129 0.3706 0.5274 0.5787 0.5937 0.5284 0.5939 0.6857 0.5916 0.5772 0.3820 0.5374 0.5769 0.5611 hom 1543.10 48 3 158537443 . A G 1543.10 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.28;MQ0=0;QD=32.15;VQSLOD=7.7915;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1576,135,0 3 160131347 160131347 A G exonic SMC4 nonsynonymous SNV SMC4:NM_005496:exon7:c.A1067G:p.N356S,SMC4:NM_001002800:exon8:c.A1067G:p.N356S,SMC4:NM_001288753:exon8:c.A992G:p.N331S 0.04 0.016 0.025 0.043 0.075 0.045 0.0553 0.0235 0.0186 0.0476 0.1356 0.0610 0.0659 0.0485 0.039 0.019 0.049 0.065 0.057 rs33999879 . . . . . . . . . . . . . 0.763 0.048 T 0.0 0.026 B 0.001 0.063 B 0.435 0.127 N 1.000 0.090 N -1.14 0.009 N -0.75 0.733 T -0.7 0.212 N 0.002 0.006 -1.082 0.070 T 0.011 0.041 T . . . -1.677 0.013 0.002 0.735 0.100 0.177 0.197 N c -1.412 -1.310 1.000 0.747 0.744 0.983 0 -4.47 0.033 -0.063 0.115 -0.548 0.048 0.715 0.285 0.897 0.379 16.313 0.827 P-loop containing nucleoside triphosphate hydrolase;RecF/RecN/SMC\x2c N-terminal ENSG00000113810.11 Artery_Aorta 0.0530 0.0205 0.0227 0.0458 0.0443 0.1272 0.0522 0.0564 0.0459 0.0522 0.0218 0.0298 0.0530 0.0476 0.1347 0.0532 0.0449 het 405.06 46 3 160131347 . A G 405.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.18;MQ0=0;MQRankSum=-1.807;QD=8.81;ReadPosRankSum=1.227;VQSLOD=4.6234;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,19:46:99:435,0,830 3 161221705 161221705 A C exonic OTOL1 nonsynonymous SNV OTOL1:NM_001080440:exon4:c.A1409C:p.E470A 0.49 0.65 0.42 0.27 0.47 0.59 0.4824 0.6028 0.4304 0.2771 0.4876 0.4730 0.4713 0.5916 0.51 0.6 0.47 0.66 . rs3921595 COSM3759853 2(haematopoietic_and_lymphoid_tissue);2(pancreas);1(large_intestine) . . . . . . . . . . . 0.014 0.531 D 0.979 0.571 D 0.628 0.498 P 0.000 0.629 D 0.902 0.277 P 1.425 0.359 L -2.75 0.908 D -2.28 0.508 N 0.167 0.202 -0.934 0.436 T 0.000 0.000 T . . . 4.980 0.670 25.1 0.989 0.483 0.970 0.722 D c 0.249 0.221 0.000 0.069 0.487 0.133 0 2.86 0.323 5.798 0.685 1.199 0.960 1.000 0.715 0.919 0.394 8.76 0.336 C1q domain|Tumour necrosis factor-like domain . . 0.4697 0.6023 0.4182 0.4007 0.2781 0.4775 0.4709 0.4705 0.5805 0.5042 0.5940 0.4062 0.44 0.3098 0.4862 0.4871 0.4541 het 358.23 41 3 161221705 . A C 358.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.808;DP=41;Dels=0.00;FS=3.491;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=-0.174;QD=8.74;ReadPosRankSum=-0.628;VQSLOD=6.0807;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,16:41:99:388,0,665 3 164714532 164714532 C T exonic SI nonsynonymous SNV SI:NM_001041:exon39:c.G4569A:p.M1523I 0.91 0.93 0.84 0.94 0.93 0.88 0.9106 0.9049 0.8101 0.9189 0.9466 0.9313 0.9188 0.9017 0.92 0.91 0.93 0.96 0.37 rs4855271 . . Benign Sucrase-isomaltase_deficiency RCV000394925.1 MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT C1283620:222900:ORPHA35122:360854006:78373000 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.090 P -1.525 0.005 N -2.54 0.895 D 2.25 0.003 N 0.053 0.035 -0.926 0.447 T 0.000 0.000 T . . . 0.419 0.134 6.775 0.556 0.053 0.031 0.079 N c -1.833 -1.712 0.000 0.069 0.487 0.133 0 -6.92 0.015 -1.364 0.027 -0.949 0.024 0.004 0.165 0.984 0.507 3.369 0.067 Glycoside hydrolase superfamily . . 0.9088 0.9085 0.8218 0.9307 0.9212 0.9453 0.9295 0.9137 0.9003 0.9300 0.9180 0.8454 0.9106 0.9197 0.9443 0.9395 0.9343 hom 284.28 11 3 164714532 . C T 284.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.423;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=57.87;MQ0=0;MQRankSum=1.107;QD=25.84;ReadPosRankSum=-0.158;VQSLOD=6.1057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,10:11:27.08:317,27,0 3 164764719 164764719 C A exonic SI synonymous SNV SI:NM_001041:exon16:c.G1797T:p.A599A 0.61 0.47 0.62 0.83 0.63 0.54 0.6098 0.4823 0.6593 0.8189 0.6615 0.6080 0.6410 0.5322 0.56 0.48 0.6 0.63 0.6 rs9838509 COSM1130299 1(prostate) Benign Sucrase-isomaltase_deficiency RCV000341616.1 MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT C1283620:222900:ORPHA35122:360854006:78373000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6159 0.4818 0.6561 0.6159 0.8144 0.6674 0.6036 0.6175 0.5344 0.5832 0.4769 0.6340 0.6167 0.805 0.6562 0.5996 0.6022 hom 4021.84 129 3 164764719 . C A 4021.84 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=58.72;MQ0=0;QD=31.18;VQSLOD=9.0411;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4021,304,0 3 164773057 164773057 G A exonic SI synonymous SNV SI:NM_001041:exon13:c.C1437T:p.N479N 0.62 0.47 0.62 0.83 0.63 0.58 0.6138 0.4866 0.6565 0.8209 0.6621 0.6088 0.6380 0.5552 0.56 0.49 0.6 0.61 0.59 rs9290257 COSM4002508 1(haematopoietic_and_lymphoid_tissue) Benign Sucrase-isomaltase_deficiency RCV000277006.1 MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT C1283620:222900:ORPHA35122:360854006:78373000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6198 0.4885 0.6556 0.6238 0.8176 0.6671 0.6043 0.6170 0.5566 0.5854 0.4809 0.6410 0.6291 0.8102 0.6566 0.6002 0.6061 hom 5689.46 204 3 164773057 . G A 5689.46 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.70;MQ0=0;QD=27.89;VQSLOD=7.1185;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:5689,427,0 3 164783165 164783165 T C exonic SI nonsynonymous SNV SI:NM_001041:exon7:c.A691G:p.T231A 0.62 0.46 0.62 0.83 0.63 0.58 0.6135 0.4765 0.6569 0.8220 0.6625 0.6098 0.6380 0.5558 0.56 0.48 0.6 0.23 0.54 rs9283633 COSM5653989;COSM5001138 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign Sucrase-isomaltase_deficiency RCV000405177.1 MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT C1283620:222900:ORPHA35122:360854006:78373000 . . . . . . 0.15 0.246 T 0.004 0.112 B 0.008 0.127 B 0.001 0.425 N 0.906 0.276 P 2.135 0.597 M -2.23 0.871 D -1.03 0.270 N 0.028 0.009 -0.963 0.387 T 0.000 0.000 T . . . 0.170 0.110 4.361 0.959 0.275 0.649 0.323 D c -0.486 -0.431 0.000 0.012 0.487 0.133 0 1.05 0.192 1.283 0.326 0.100 0.199 0.966 0.337 0.898 0.379 8.956 0.348 Galactose mutarotase\x2c N-terminal barrel|Galactose mutarotase-like domain . . 0.6193 0.4775 0.6551 0.6240 0.8185 0.6679 0.6047 0.6175 0.5564 0.5651 0.4615 0.6142 0.6154 0.7972 0.6360 0.5825 0.5863 hom 1739.43 58 3 164783165 . T C 1739.43 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=29.99;VQSLOD=9.0927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1772,132,0 3 167000256 167000256 G C exonic ZBBX nonsynonymous SNV ZBBX:NM_001199202:exon19:c.C1820G:p.A607G,ZBBX:NM_024687:exon19:c.C1907G:p.A636G,ZBBX:NM_001199201:exon20:c.C2024G:p.A675G . . . . . . 0.3471 0.2756 0.4343 0.6366 0.2834 0.3070 0.3761 0.3623 0.29 0.27 0.3 0.42 0.13 rs12638625 . . . . . . . . . . . . . 0.053 0.388 T 0.221 0.286 B 0.161 0.331 B 0.508 0.119 N 1.000 0.205 P 1.32 0.331 L 2.68 0.143 T -1.59 0.383 N 0.144 0.169 -1.024 0.225 T 0.000 0.000 T . . . 1.404 0.232 12.81 0.903 0.190 0.785 0.384 D c -0.718 -0.678 0.000 0.012 0.554 0.246 0 1.47 0.217 0.641 0.242 -0.248 0.090 0.992 0.373 0.394 0.253 4.429 0.109 . . . 0.3532 0.2768 0.4291 0.3761 0.6369 0.2841 0.3055 0.3616 0.3637 0.3113 0.2721 0.4427 0.3907 0.6532 0.2784 0.2970 0.2963 het 1622.03 114 3 167000256 . G C 1622.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.634;DP=114;Dels=0.00;FS=1.647;HRun=1;HaplotypeScore=0.9665;MQ=59.14;MQ0=0;MQRankSum=2.170;QD=14.23;ReadPosRankSum=0.498;VQSLOD=5.7069;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,62:114:99:1652,0,1404 3 167051726 167051726 A G exonic ZBBX synonymous SNV ZBBX:NM_001199201:exon10:c.T576C:p.F192F,ZBBX:NM_001199202:exon10:c.T489C:p.F163F,ZBBX:NM_024687:exon10:c.T576C:p.F192F 0.46 0.46 0.44 0.66 0.34 0.39 0.3812 0.4336 0.4577 0.6599 0.3241 0.3338 0.4096 0.3640 0.36 0.43 0.33 0.5 0.28 rs10936530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3851 0.4357 0.4516 0.3738 0.6593 0.3245 0.3349 0.3933 0.3644 0.3785 0.4274 0.4676 0.3907 0.6683 0.3173 0.3303 0.3439 het 836.71 73 3 167051726 . A G 836.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.018;DP=73;Dels=0.00;FS=0.897;HRun=0;HaplotypeScore=0.9734;MQ=59.74;MQ0=0;MQRankSum=-0.217;QD=11.46;ReadPosRankSum=-2.618;VQSLOD=5.5338;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,32:73:99:867,0,1048 3 167077691 167077691 T A exonic ZBBX synonymous SNV ZBBX:NM_001199201:exon8:c.A399T:p.V133V,ZBBX:NM_001199202:exon8:c.A312T:p.V104V,ZBBX:NM_024687:exon8:c.A399T:p.V133V 1. 1. 1. 1. 1. 1. 0.9971 0.9993 0.9990 1 0.9968 0.9955 0.9989 0.9996 1. 1. 0.99 0.95 0.93 rs4257551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9969 0.9993 0.9987 0.9997 1 0.9963 0.9949 0.9971 0.9995 0.9959 0.9990 0.9988 1 1 0.9968 0.9929 0.9990 hom 1663.93 58 3 167077691 . T A 1663.93 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.69;VQSLOD=12.7033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1697,126,0 3 167164187 167164187 A G exonic SERPINI2 synonymous SNV SERPINI2:NM_006217:exon8:c.T1134C:p.N378N,SERPINI2:NM_001012303:exon9:c.T1164C:p.N388N 0.24 0.43 0.23 0.29 0.092 0.076 0.1499 0.3956 0.2769 0.2778 0.0939 0.0955 0.1503 0.0795 0.2 0.39 0.096 0.26 0.016 rs2272138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1483 0.3997 0.2556 0.1229 0.2840 0.1032 0.0904 0.1388 0.0812 0.1952 0.3987 0.2196 0.1026 0.2871 0.1125 0.0911 0.1258 hom 2889.96 96 3 167164187 . A G 2889.96 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8910;MQ=58.99;MQ0=0;QD=30.10;VQSLOD=9.2877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2923,223,0 3 167167186 167167186 T A exonic SERPINI2 synonymous SNV SERPINI2:NM_006217:exon7:c.A969T:p.S323S,SERPINI2:NM_001012303:exon8:c.A999T:p.S333S 0.37 0.3 0.38 0.39 0.41 0.4 0.3955 0.3165 0.3789 0.3859 0.4948 0.4024 0.4208 0.3930 0.36 0.31 0.39 0.29 0.21 rs6770577 COSM3759861 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3892 0.3078 0.3658 0.3641 0.3856 0.4976 0.3886 0.3914 0.3901 0.3800 0.3096 0.3429 0.3344 0.3936 0.5136 0.3883 0.4281 hom 894.40 27 3 167167186 . T A 894.40 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.37;MQ0=0;QD=33.13;VQSLOD=8.6026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:72.22:927,72,0 3 167184878 167184878 T C exonic SERPINI2 nonsynonymous SNV SERPINI2:NM_006217:exon3:c.A443G:p.E148G,SERPINI2:NM_001012303:exon4:c.A473G:p.E158G 0.41 0.37 0.38 0.51 0.4 0.4 0.3971 0.3676 0.3727 0.4869 0.4908 0.3862 0.4174 0.3905 0.37 0.37 0.38 0.37 0.24 rs9841174 COSM3759862 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.097 0.309 T 0.722 0.404 P 0.438 0.438 B 0.037 0.244 N 0.996 0.231 P 1.63 0.419 L -1.89 0.846 D -2.85 0.706 D 0.06 0.323 -0.999 0.303 T 0.000 0.000 T . . . 3.142 0.437 22.6 0.998 0.918 0.863 0.453 D c -0.099 -0.064 0.005 0.107 0.487 0.133 0 3.34 0.372 2.204 0.422 -0.670 0.040 1.000 0.715 0.072 0.177 10.059 0.412 Serpin domain . . 0.3960 0.3608 0.3658 0.3637 0.4903 0.4974 0.3787 0.3959 0.3934 0.3949 0.3625 0.3377 0.3311 0.5056 0.5112 0.3773 0.4256 hom 1386.75 45 3 167184878 . T C 1386.75 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.05;MQ0=0;QD=30.82;VQSLOD=8.3765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1420,111,0 3 167217960 167217960 C T exonic WDR49 synonymous SNV WDR49:NM_001348951:exon18:c.G2979A:p.E993E,WDR49:NM_001348952:exon18:c.G2979A:p.E993E 0.19 0.18 0.22 0.38 0.091 0.065 0.1313 0.1664 0.2632 0.3637 0.0926 0.0900 0.1317 0.0730 0.11 0.16 0.09 0.22 0.016 rs13061106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1261 0.1647 0.2394 0.0993 0.3625 0.1015 0.0851 0.1203 0.0708 0.1282 0.1610 0.1962 0.0894 0.3605 0.1091 0.0873 0.1061 hom 3484.91 113 3 167217960 . C T 3484.91 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.18;MQ0=0;QD=30.84;VQSLOD=8.6869;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3485,268,0 3 167217964 167217964 A G exonic WDR49 nonsynonymous SNV WDR49:NM_001348951:exon18:c.T2975C:p.L992P,WDR49:NM_001348952:exon18:c.T2975C:p.L992P 0.36 0.26 0.34 0.48 0.35 0.39 0.3591 0.2685 0.3564 0.4596 0.4041 0.3508 0.3786 0.3791 0.32 0.27 0.35 0.36 0.17 rs13060964 COSM3759865;COSM3759864 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.057 0.408 T 0.0 0.026 B 0.0 0.013 B 0.059 0.223 N 1 0.090 P -1.04 0.011 N 0.67 0.522 T 2.49 0.002 N 0.058 0.446 -0.923 0.452 T 0.000 0.000 T . . . 0.339 0.127 6.066 0.640 0.072 0.001 0.007 N c -0.902 -0.856 0.000 0.012 0.487 0.133 0 3.29 0.366 1.633 0.365 0.091 0.195 0.478 0.266 0.029 0.146 6.749 0.225 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000114204.10 Brain_Cerebellum 0.3569 0.2610 0.3454 0.3250 0.4594 0.4073 0.3451 0.3607 0.3769 0.3371 0.2657 0.3074 0.3046 0.4625 0.4231 0.3452 0.3676 hom 3534.28 121 3 167217964 . A G 3534.28 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9874;MQ=58.36;MQ0=0;QD=29.21;VQSLOD=7.7272;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3533,292,0 3 167506937 167506937 C G exonic SERPINI1 nonsynonymous SNV SERPINI1:NM_001122752:exon2:c.C21G:p.F7L,SERPINI1:NM_005025:exon2:c.C21G:p.F7L 0.11 0.21 0.15 0.052 0.1 0.041 0.0979 0.2081 0.1633 0.0568 0.1370 0.0857 0.0960 0.0380 0.13 0.2 0.088 0.14 0.11 rs33917740 COSM3736311 1(skin) Benign Encephalopathy\x2c_familial\x2c_with_neuroserpin_inclusion_bodies RCV000326135.1 MedGen:OMIM:Orphanet C1858680:604218:ORPHA85110 . . . . . . 0.652 0.114 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 N 1.000 0.209 P -1.26 0.008 N -0.98 0.831 T 0.17 0.119 N 0.049 0.363 -1.060 0.117 T 0.000 0.001 T . . . 0.644 0.155 8.458 0.539 0.049 0.698 0.340 D c -0.861 -0.663 0.001 0.081 0.706 0.609 0 1.81 0.240 1.481 0.349 0.077 0.185 1.000 0.715 0.461 0.264 10.490 0.437 . . . 0.0994 0.2130 0.1514 0.0583 0.0582 0.1378 0.0873 0.1050 0.0378 0.1288 0.2054 0.1376 0.0828 0.0617 0.1359 0.0914 0.1104 het 1363.80 107 3 167506937 . C G 1363.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.484;DP=107;Dels=0.00;FS=7.776;HRun=0;HaplotypeScore=1.5592;MQ=58.56;MQ0=0;MQRankSum=0.452;QD=12.75;ReadPosRankSum=1.088;VQSLOD=4.2419;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,52:107:99:1394,0,1436 3 167506967 167506967 A G exonic SERPINI1 synonymous SNV SERPINI1:NM_001122752:exon2:c.A51G:p.T17T,SERPINI1:NM_005025:exon2:c.A51G:p.T17T 0.11 0.21 0.15 0.052 0.1 0.041 0.0980 0.2081 0.1638 0.0569 0.1371 0.0857 0.0958 0.0380 0.13 0.2 0.088 0.14 0.11 rs34582040 COSM4416354 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Encephalopathy\x2c_familial\x2c_with_neuroserpin_inclusion_bodies RCV000286297.1 MedGen:OMIM:Orphanet C1858680:604218:ORPHA85110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0996 0.2130 0.1516 0.0583 0.0585 0.1385 0.0873 0.1052 0.0378 0.1288 0.2055 0.1376 0.0828 0.0617 0.1359 0.0915 0.1104 het 1263.65 117 3 167506967 . A G 1263.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.909;DP=117;Dels=0.00;FS=1.530;HRun=4;HaplotypeScore=5.4891;MQ=58.92;MQ0=0;MQRankSum=1.636;QD=10.80;ReadPosRankSum=-0.401;VQSLOD=4.8583;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,55:117:99:1294,0,1691 3 167510472 167510472 G A exonic SERPINI1 synonymous SNV SERPINI1:NM_001122752:exon4:c.G576A:p.S192S,SERPINI1:NM_005025:exon4:c.G576A:p.S192S 0.12 0.21 0.15 0.053 0.1 0.042 0.0985 0.2088 0.1640 0.0574 0.1372 0.0857 0.0969 0.0412 0.13 0.2 0.088 0.14 0.12 rs2229697 COSM4419303 1(haematopoietic_and_lymphoid_tissue) Benign Encephalopathy\x2c_familial\x2c_with_neuroserpin_inclusion_bodies RCV000395296.1 MedGen:OMIM:Orphanet C1858680:604218:ORPHA85110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1001 0.2134 0.1516 0.0584 0.0586 0.1389 0.0873 0.1053 0.0414 0.1289 0.2052 0.1400 0.0828 0.0624 0.1358 0.0916 0.1102 het 962.75 110 3 167510472 . G A 962.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.065;DP=110;Dels=0.00;FS=1.559;HRun=0;HaplotypeScore=2.8251;MQ=58.71;MQ0=0;MQRankSum=1.657;QD=8.75;ReadPosRankSum=-0.546;VQSLOD=5.9035;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,44:110:99:993,0,1793 3 169098992 169098992 G A exonic MECOM nonsynonymous SNV MECOM:NM_004991:exon2:c.C358T:p.P120S 0.15 0.14 0.33 0.16 0.12 0.076 0.1333 0.1300 0.3274 0.1634 0.1044 0.1121 0.1111 0.0784 0.12 0.13 0.11 0.16 . rs7622799 COSM149513 1(stomach);6(soft_tissue) . . . . . . . . . . . 0.442 0.092 T 0.275 0.302 B 0.096 0.288 B 0.001 0.428 N 0.987 0.245 P 0.895 0.225 L -0.59 0.716 T 0.36 0.037 N 0.048 0.029 -1.081 0.071 T 0.000 0.000 T . . . 0.279 0.121 5.485 0.320 0.018 0.891 0.491 D c -0.282 -0.128 0.008 0.115 0.707 0.730 0 4.52 0.546 2.564 0.453 0.154 0.240 1.000 0.715 0.306 0.238 13.237 0.592 SET domain . . 0.1386 0.1319 0.3167 0.0541 0.1664 0.1021 0.1146 0.1308 0.0734 0.1260 0.1282 0.2792 0.0364 0.1631 0.0959 0.1216 0.1181 het 874.01 73 3 169098992 . G A 874.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.804;DP=73;Dels=0.00;FS=0.939;HRun=0;HaplotypeScore=0.0000;MQ=58.53;MQ0=0;MQRankSum=0.138;QD=11.97;ReadPosRankSum=0.370;VQSLOD=5.9320;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,38:73:99:904,0,1005 3 169099171 169099171 T G exonic MECOM nonsynonymous SNV MECOM:NM_004991:exon2:c.A179C:p.E60A . . . . . . 6.631e-05 0 0 0 0 0.0001 0 0 0.0002 . 0.0002 . . rs369826375 . . . . . . . . . . . . . 0.002 0.721 D 0.99 0.615 D 0.766 0.548 P 0.002 0.371 N 0.842 0.286 N 1.865 0.494 L 0.81 0.485 T -1.74 0.808 N 0.307 0.546 -0.686 0.611 T 0.215 0.577 T 0.032 0.542 D 2.247 0.331 17.82 0.995 0.695 0.995 0.964 D c 0.131 0.169 0.592 0.216 0.707 0.730 0 4.77 0.603 7.347 0.784 0.148 0.236 1.000 0.715 0.985 0.512 11.905 0.518 . . . 4.883e-05 0 0 0 0 0 0.0001 0 0 6.46e-05 0 0 0 0 0 0.0001 0 het 1033.84 85 3 169099171 . T G 1033.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.525;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=58.29;MQ0=0;MQRankSum=1.507;QD=12.16;ReadPosRankSum=-0.529;VQSLOD=4.3479;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,45:85:99:1064,0,1047 3 170078232 170078232 C T exonic SKIL nonsynonymous SNV SKIL:NM_001145097:exon1:c.C113T:p.A38V,SKIL:NM_001248008:exon1:c.C113T:p.A38V,SKIL:NM_005414:exon2:c.C113T:p.A38V,SKIL:NM_001145098:exon3:c.C53T:p.A18V 0.69 0.43 0.82 0.84 0.82 0.67 0.7803 0.4987 0.8128 0.8335 0.8609 0.8192 0.7952 0.7164 0.72 0.52 0.82 0.62 0.85 rs3772173 COSM5425412 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.002 0.063 B 0.002 0.385 N 0.595 0.310 P -0.205 0.041 N 0.26 0.593 T 0.52 0.037 N 0.034 0.034 -0.902 0.478 T 0.000 0.000 T . . . 0.510 0.143 7.508 0.148 0.003 0.395 0.260 N c -0.490 -0.253 1.000 0.747 0.543 0.218 0 4.42 0.526 2.503 0.448 0.892 0.403 1.000 0.715 0.765 0.326 4.104 0.094 . ENSG00000239628.1 Testis 0.7884 0.5003 0.8077 0.8310 0.8382 0.8674 0.8145 0.8019 0.7148 0.7304 0.5003 0.7950 0.8179 0.8379 0.8756 0.8098 0.7749 hom 3358.19 107 3 170078232 . C T 3358.19 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8379;MQ=58.16;MQ0=0;QD=31.38;VQSLOD=8.6394;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3358,277,0 3 170893070 170893070 G A exonic TNIK synonymous SNV TNIK:NM_001161560:exon9:c.C744T:p.N248N,TNIK:NM_001161561:exon9:c.C744T:p.N248N,TNIK:NM_001161562:exon9:c.C744T:p.N248N,TNIK:NM_001161563:exon9:c.C744T:p.N248N,TNIK:NM_001161564:exon9:c.C744T:p.N248N,TNIK:NM_001161565:exon9:c.C744T:p.N248N,TNIK:NM_001161566:exon9:c.C744T:p.N248N,TNIK:NM_015028:exon9:c.C744T:p.N248N 0.57 0.27 0.6 0.87 0.58 0.63 0.5853 0.3183 0.5888 0.8625 0.5715 0.5756 0.5921 0.6332 0.48 0.3 0.57 0.48 . rs12637875 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5872 0.2994 0.5992 0.6075 0.8664 0.5763 0.5692 0.6027 0.6240 0.5167 0.2982 0.5695 0.5695 0.8821 0.5808 0.5807 0.5804 het 529.15 43 3 170893070 . G A 529.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.546;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7128;MQ=58.54;MQ0=0;MQRankSum=-1.449;QD=12.31;ReadPosRankSum=0.475;VQSLOD=5.4133;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,23:43:99:559,0,484 3 171087469 171087469 G A exonic TNIK synonymous SNV TNIK:NM_001161560:exon2:c.C63T:p.P21P,TNIK:NM_001161561:exon2:c.C63T:p.P21P,TNIK:NM_001161562:exon2:c.C63T:p.P21P,TNIK:NM_001161563:exon2:c.C63T:p.P21P,TNIK:NM_001161564:exon2:c.C63T:p.P21P,TNIK:NM_001161565:exon2:c.C63T:p.P21P,TNIK:NM_001161566:exon2:c.C63T:p.P21P,TNIK:NM_015028:exon2:c.C63T:p.P21P 0.45 0.078 0.63 0.43 0.73 0.56 0.6632 0.2337 0.7357 0.5325 0.6979 0.7534 0.6218 0.5800 0.58 0.2 0.74 0.33 . rs3796295 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6449 0.1738 0.6815 0.6328 0.4451 0.6798 0.7426 0.6665 0.5754 0.5644 0.1783 0.6838 0.6258 0.4463 0.6874 0.7559 0.7057 hom 306.32 13 3 171087469 . G A 306.32 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.56;VQSLOD=13.5975;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:24.08:339,24,0 3 171969077 171969077 C G exonic FNDC3B nonsynonymous SNV FNDC3B:NM_001135095:exon6:c.C536G:p.T179S,FNDC3B:NM_022763:exon6:c.C536G:p.T179S 0.64 0.92 0.56 0.55 0.52 0.55 0.5509 0.8617 0.5385 0.5061 0.5307 0.5057 0.5310 0.5782 0.61 0.85 0.49 0.71 0.54 rs7652177 COSM149516 1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.758 0.035 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -1.095 0.010 N 1.57 0.293 T 0.55 0.027 N 0.021 0.007 -0.984 0.340 T 0.000 0.000 T . . . 1.041 0.194 10.89 0.952 0.258 0.292 0.235 N c -0.517 -0.223 1.000 0.747 0.722 0.854 0 5.98 0.971 4.111 0.573 0.101 0.200 1.000 0.715 0.996 0.625 17.482 0.875 . . . 0.5406 0.8667 0.5332 0.4954 0.5082 0.5193 0.5031 0.5121 0.5750 0.6049 0.8553 0.5564 0.5033 0.5298 0.5092 0.5004 0.5132 het 1123.94 127 3 171969077 . C G 1123.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.251;DP=127;Dels=0.00;FS=0.703;HRun=0;HaplotypeScore=6.9079;MQ=59.06;MQ0=0;MQRankSum=1.018;QD=8.85;ReadPosRankSum=-0.022;VQSLOD=4.1788;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,49:127:99:1154,0,1954 3 172165727 172165727 C T exonic GHSR synonymous SNV GHSR:NM_004122:exon1:c.G477A:p.R159R,GHSR:NM_198407:exon1:c.G477A:p.R159R 0.24 0.056 0.29 0.42 0.28 0.22 0.3018 0.0838 0.4344 0.4688 0.3298 0.3072 0.2673 0.2261 0.23 0.088 0.3 0.21 0.28 rs572169 COSM3759874;COSM3759875 1(large_intestine) Benign|Benign not_specified|Short_stature\x2c_idiopathic\x2c_autosomal RCV000249477.1|RCV000347022.1 MedGen|MedGen:OMIM:OMIM CN169374|C1858656:604271:615925 Height . .03 20881960 rs572169 3E-18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3078 0.0827 0.4231 0.1896 0.4616 0.3297 0.3089 0.2799 0.2302 0.2538 0.0856 0.3469 0.1987 0.4566 0.3342 0.3046 0.2920 hom 3328.94 109 3 172165727 . C T 3328.94 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6894;MQ=58.87;MQ0=0;QD=30.54;VQSLOD=8.3013;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3328,268,0 3 172166033 172166033 G A exonic GHSR synonymous SNV GHSR:NM_004122:exon1:c.C171T:p.G57G,GHSR:NM_198407:exon1:c.C171T:p.G57G 0.54 0.4 0.66 0.62 0.7 0.39 0.6555 0.4693 0.7549 0.6488 0.6821 0.7165 0.6528 0.4498 0.64 0.48 0.72 0.63 0.54 rs495225 COSM4157441;COSM4157440 1(thyroid) Benign|Benign not_specified|Short_stature\x2c_idiopathic\x2c_autosomal RCV000244530.2|RCV000359880.1 MedGen|MedGen:OMIM:OMIM CN169374|C1858656:604271:615925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6625 0.4623 0.7546 0.6623 0.6428 0.6833 0.7189 0.6683 0.4551 0.6319 0.4639 0.7303 0.6523 0.6467 0.6915 0.7064 0.6568 hom 1477.77 49 3 172166033 . G A 1477.77 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;QD=30.16;VQSLOD=9.3775;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:49:99:1511,132,0 3 172428782 172428782 T C exonic NCEH1 nonsynonymous SNV NCEH1:NM_001146276:exon1:c.A89G:p.Q30R,NCEH1:NM_020792:exon1:c.A89G:p.Q30R 0.54 0.18 0.74 0.72 0.69 0.56 0.6523 0.2593 0.8118 0.6902 0.7695 0.6927 0.69 0.5524 0.54 0.27 0.67 0.46 0.69 rs2276805 COSM4157444;COSM4157445 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.882 0.072 N 1 0.208 P . . . 3.72 0.040 T -0.16 0.095 N 0.014 0.044 -0.970 0.373 T 0.000 0.000 T . . . -1.325 0.021 0.004 0.623 0.067 0.008 0.032 N c -1.247 -1.390 1.000 0.747 0.442 0.072 0 -4.49 0.032 -0.332 0.079 -0.500 0.052 0.001 0.137 0.003 0.074 2.141 0.035 . ENSG00000144959.5|ENSG00000144959.5|ENSG00000144959.5|ENSG00000144959.5|ENSG00000144959.5 Artery_Tibial|Brain_Cerebellum|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6674 0.2502 0.8047 0.6632 0.6924 0.7708 0.6892 0.6837 0.5543 0.5794 0.2672 0.7488 0.6656 0.6918 0.7668 0.6875 0.6762 hom 2703.47 90 3 172428782 . T C 2703.47 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57.97;MQ0=0;QD=30.04;VQSLOD=8.5577;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2736,229,0 3 172766777 172766777 C T exonic SPATA16 synonymous SNV SPATA16:NM_031955:exon3:c.G720A:p.R240R 0.023 0.0015 0.073 . 0.031 0.034 0.0317 0.0064 0.1135 0.0002 0.0201 0.0251 0.0209 0.0388 0.023 0.0059 0.032 0.022 0.016 rs55724801 . . Likely benign Spermatogenic_Failure RCV000347773.1 MedGen CN239485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0359 0.0061 0.1062 0.0295 0.0001 0.0179 0.0279 0.0327 0.0389 0.0213 0.0064 0.0837 0.0331 0.0006 0.0177 0.0289 0.0276 het 1447.68 119 3 172766777 . C T 1447.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.926;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=0.609;QD=12.17;ReadPosRankSum=-0.832;VQSLOD=6.1997;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1478,0,1521 3 172835392 172835392 A T exonic SPATA16 nonsynonymous SNV SPATA16:NM_031955:exon2:c.T130A:p.S44T 0.017 0.0015 0.045 . 0.027 0.025 0.0264 0.0054 0.0698 0.0002 0.0340 0.0243 0.0253 0.0280 0.021 0.0041 0.03 0.011 0.016 rs146572379 . . Likely benign Spermatogenic_Failure RCV000274552.1 MedGen CN239485 . . . . . . 0.778 0.033 T 0.0 0.026 B 0.001 0.040 B 0.775 0.095 N 1 0.090 N 0.205 0.094 N 2.45 0.150 T -0.32 0.123 N 0.031 0.012 -0.973 0.365 T 0.003 0.008 T . . . -2.722 0.002 0.001 0.214 0.008 0.039 0.091 N c -1.549 -1.524 0.000 0.038 0.554 0.283 0 -3.05 0.050 -0.522 0.063 -1.566 0.009 0.000 0.063 0.001 0.043 7.37 0.258 . . . 0.0291 0.0056 0.0638 0.0273 0.0001 0.0307 0.0271 0.0230 0.0269 0.0211 0.0052 0.0490 0.0331 0 0.0272 0.0289 0.0285 het 2930.17 245 3 172835392 . A T 2930.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.040;DP=245;DS;Dels=0.00;FS=1.541;HRun=0;HaplotypeScore=4.8982;MQ=58.69;MQ0=0;MQRankSum=2.256;QD=11.96;ReadPosRankSum=1.069;VQSLOD=3.2442;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:125,118:245:99:2960,0,3351 3 174814738 174814738 G A exonic NAALADL2 nonsynonymous SNV NAALADL2:NM_207015:exon2:c.G202A:p.G68S 0.38 0.29 0.42 0.44 0.39 0.4 0.3835 0.2733 0.3950 0.4464 0.4349 0.3925 0.4083 0.3499 0.35 0.27 0.39 0.28 . rs9823911 COSM4997854 2(pancreas);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.466 0.123 N 1 0.090 P -1.15 0.009 N 1.62 0.301 T 1.03 0.022 N 0.014 0.004 -0.918 0.458 T 0.000 0.000 T . . . 0.120 0.105 3.819 0.783 0.118 0.014 0.047 N c -1.222 -1.141 0.000 0.012 0.638 0.428 0 0.957 0.187 0.727 0.255 0.244 0.267 0.012 0.185 0.977 0.480 5.898 0.181 . . . 0.3853 0.2696 0.3967 0.2790 0.4526 0.4288 0.3988 0.4004 0.3438 0.3757 0.2641 0.3861 0.3278 0.4486 0.4386 0.4151 0.4289 het 475.21 44 3 174814738 . G A 475.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.537;DP=44;Dels=0.00;FS=2.713;HRun=0;HaplotypeScore=0.0000;MQ=57.54;MQ0=0;MQRankSum=-0.776;QD=10.80;ReadPosRankSum=-2.733;VQSLOD=3.4995;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,18:44:99:505,0,662 3 174814920 174814920 A G exonic NAALADL2 nonsynonymous SNV NAALADL2:NM_207015:exon2:c.A384G:p.I128M 0.4 0.29 0.45 0.44 0.44 0.41 0.4223 0.2828 0.4139 0.4468 0.4758 0.4493 0.4475 0.3656 0.4 0.28 0.45 0.3 . rs9836841 . . . . . . . . . . . . . 0.191 0.263 T 0.083 0.232 B 0.017 0.170 B 0.021 0.268 N 1 0.090 P 0.51 0.135 N 1.42 0.344 T -1.68 0.401 N 0.056 0.074 -0.906 0.474 T 0.000 0.000 T . . . -1.003 0.032 0.016 0.515 0.045 0.101 0.156 N c -1.031 -1.037 0.000 0.012 0.554 0.246 0 -1.48 0.082 -0.007 0.126 1.140 0.893 0.012 0.185 0.996 0.625 6.192 0.196 . ENSG00000177694.10 Testis 0.4233 0.2794 0.4198 0.3288 0.4531 0.4706 0.4556 0.4387 0.3582 0.4104 0.2729 0.4151 0.3841 0.4502 0.4748 0.4682 0.4602 het 1106.05 89 3 174814920 . A G 1106.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.968;DP=89;Dels=0.00;FS=1.829;HRun=0;HaplotypeScore=0.8941;MQ=59.06;MQ0=0;MQRankSum=-0.514;QD=12.43;ReadPosRankSum=-0.473;VQSLOD=6.5844;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,41:89:99:1136,0,1182 3 174951756 174951756 T C exonic NAALADL2 nonsynonymous SNV NAALADL2:NM_207015:exon3:c.T581C:p.M194T 0.64 0.58 0.57 0.62 0.72 0.71 0.6928 0.6076 0.5445 0.6729 0.7007 0.7275 0.6996 0.7130 0.7 0.63 0.73 0.7 . rs4371530 COSM149518 1(stomach);3(prostate) . . . . . . . . . . . 0.632 0.051 T 0.0 0.026 B 0.006 0.112 B 0.709 0.100 N 1 0.090 P 0.51 0.135 N 1.13 0.386 T -0.91 0.245 N 0.017 0.003 -0.953 0.404 T 0.000 0.000 T . . . -1.521 0.016 0.002 0.668 0.079 0.021 0.062 N c -1.432 -1.416 0.000 0.059 0.660 0.495 0 -3.1 0.050 -0.931 0.040 -1.336 0.013 0.009 0.180 0.771 0.327 11.737 0.509 . . . 0.6871 0.6031 0.5543 0.7516 0.6721 0.6957 0.7269 0.6918 0.7102 0.6824 0.5964 0.5656 0.7517 0.6696 0.7067 0.7322 0.6965 hom 1233.49 37 3 174951756 . T C 1233.49 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.34;VQSLOD=13.5852;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1266,99,0 3 175165079 175165079 C T exonic NAALADL2 nonsynonymous SNV NAALADL2:NM_207015:exon6:c.C1153T:p.P385S 1. 1. 1. 1. 1. 1. 0.9990 1 0.9998 1 0.9992 0.9984 0.9988 1 1. 1. 1. 1. . rs6802937 . . . . . . . . . . . . . 0.934 0.022 T 0.0 0.026 B 0.0 0.013 B 0.028 0.257 N 1 0.090 P -2.65 0.000 N 1.1 0.390 T 1.26 0.010 N 0.032 0.012 -0.951 0.409 T 0.000 0.000 T . . . 0.009 0.094 2.669 0.232 0.010 0.005 0.023 N c -1.312 -1.098 0.000 0.012 0.554 0.246 0 4.53 0.548 0.232 0.175 0.154 0.240 0.004 0.165 0.351 0.246 1.626 0.025 . . . 0.9993 1 0.9997 0.9997 1 0.9995 0.9987 0.9994 1 0.9997 0.9999 1 1 1 0.9997 0.9995 1 hom 768.19 27 3 175165079 . C T 768.19 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.45;VQSLOD=14.2470;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:66.19:801,66,0 3 175189447 175189447 G A exonic NAALADL2 synonymous SNV NAALADL2:NM_207015:exon9:c.G1554A:p.Q518Q 0.55 0.34 0.66 0.68 0.64 0.52 0.6186 0.3809 0.6698 0.6995 0.6827 0.6408 0.6359 0.5644 0.54 0.36 0.63 0.48 . rs9290555 COSM3759879 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6129 0.3594 0.6638 0.6320 0.6802 0.6725 0.6275 0.6112 0.5425 0.5693 0.3748 0.6691 0.7215 0.6790 0.6642 0.6370 0.6268 hom 710.20 23 3 175189447 . G A 710.20 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.88;VQSLOD=13.9757;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.18:743,57,0 3 175473047 175473047 T C exonic NAALADL2 nonsynonymous SNV NAALADL2:NM_207015:exon13:c.T2030C:p.L677S 0.98 1. 0.97 1. 0.94 0.99 0.9536 0.9900 0.9795 1 0.8797 0.9365 0.9488 0.9884 0.95 0.99 0.94 0.98 . rs9826737 . . . . . . . . . . . . . 0.9 0.024 T 0.0 0.026 B 0.0 0.013 B 0.012 0.295 N 1 0.090 P -2.075 0.002 N 1.64 0.278 T 1.76 0.005 N 0.044 0.024 -0.938 0.430 T 0.000 0.000 T . . . 0.209 0.114 4.769 0.310 0.017 0.002 0.009 N c -1.124 -0.963 0.001 0.083 0.638 0.428 0 5.71 0.890 2.307 0.431 0.040 0.155 0.082 0.222 0.003 0.074 6.341 0.204 Transferrin receptor-like\x2c dimerisation domain . . 0.9516 0.9905 0.9782 0.9366 0.9999 0.8741 0.9377 0.9517 0.9878 0.9408 0.9887 0.9749 0.9603 0.9994 0.8672 0.9229 0.9194 hom 2272.14 75 3 175473047 . T C 2272.14 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9914;MQ=57.74;MQ0=0;QD=30.30;VQSLOD=7.9066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2305,175,0 3 178546026 178546026 T C exonic KCNMB2 synonymous SNV KCNMB2:NM_001278911:exon4:c.T288C:p.N96N,KCNMB2:NM_181361:exon4:c.T288C:p.N96N,KCNMB2:NM_005832:exon5:c.T288C:p.N96N 0.58 0.93 0.52 0.23 0.58 0.53 0.5630 0.8809 0.4637 0.2390 0.5487 0.5820 0.5793 0.5292 0.68 0.87 0.59 0.65 0.52 rs9831934 COSM4415462 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5531 0.8809 0.4759 0.6050 0.2282 0.5497 0.5822 0.5884 0.5303 0.6425 0.8686 0.5251 0.6133 0.1976 0.5238 0.5968 0.5949 het 1933.27 149 3 178546026 . T C 1933.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.214;DP=149;Dels=0.00;FS=2.961;HRun=0;HaplotypeScore=6.4257;MQ=59.44;MQ0=0;MQRankSum=1.469;QD=12.97;ReadPosRankSum=0.720;VQSLOD=4.7584;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,71:149:99:1963,0,1997 3 178560581 178560581 A C exonic KCNMB2 synonymous SNV KCNMB2:NM_001278911:exon5:c.A564C:p.T188T,KCNMB2:NM_181361:exon5:c.A564C:p.T188T,KCNMB2:NM_005832:exon6:c.A564C:p.T188T 0.58 0.93 0.53 0.22 0.58 0.52 0.5611 0.8787 0.4642 0.2378 0.5491 0.5808 0.5806 0.5214 0.68 0.87 0.58 0.64 0.5 rs6443583 COSM4415316 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5513 0.8784 0.4759 0.6061 0.2289 0.5496 0.5807 0.5866 0.5225 0.6415 0.8666 0.5251 0.6126 0.2015 0.5241 0.5954 0.5922 het 721.34 50 3 178560581 . A C 721.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.592;DP=50;Dels=0.00;FS=4.022;HRun=1;HaplotypeScore=0.7887;MQ=59.07;MQ0=0;MQRankSum=-1.719;QD=14.43;ReadPosRankSum=1.602;VQSLOD=4.6755;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:751,0,729 3 178968634 178968634 C T exonic KCNMB3 nonsynonymous SNV KCNMB3:NM_171830:exon1:c.G145A:p.A49T,KCNMB3:NM_001163677:exon2:c.G151A:p.A51T,KCNMB3:NM_014407:exon2:c.G157A:p.A53T,KCNMB3:NM_171828:exon2:c.G151A:p.A51T,KCNMB3:NM_171829:exon2:c.G91A:p.A31T 0.32 0.42 0.31 0.12 0.37 0.32 0.3456 0.3825 0.2780 0.1169 0.3583 0.3899 0.3377 0.3056 0.38 0.39 0.38 0.29 0.43 rs7645550 COSM3927778;COSM3927780;COSM149519;COSM3927779 1(stomach);1(prostate) . . . . . . . . . . . 0.005 0.654 D 1.0 0.899 D 0.996 0.832 D 0.000 0.559 D 0.004 0.432 P 2.925 0.847 M 2.89 0.102 T -1.8 0.452 N 0.232 0.302 -0.920 0.456 T 0.000 0.000 T . . . 5.474 0.743 26.2 0.999 0.980 0.864 0.454 D c 0.653 0.607 1.000 0.747 0.707 0.730 0 6.08 0.990 4.626 0.607 0.935 0.490 1.000 0.715 0.104 0.190 18.157 0.896 . . . 0.3431 0.3802 0.2865 0.3342 0.1223 0.3629 0.3962 0.3361 0.3068 0.3616 0.3733 0.3002 0.3808 0.1224 0.3723 0.3814 0.3589 het 1133.70 133 3 178968634 . C T 1133.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.586;DP=133;Dels=0.00;FS=0.699;HRun=0;HaplotypeScore=9.7140;MQ=59.04;MQ0=0;MQRankSum=0.492;QD=8.52;ReadPosRankSum=0.087;VQSLOD=3.6716;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,52:133:99:1164,0,2067 3 179051472 179051472 A G exonic ZNF639 synonymous SNV ZNF639:NM_001303426:exon6:c.A720G:p.E240E,ZNF639:NM_001303425:exon7:c.A720G:p.E240E,ZNF639:NM_016331:exon7:c.A720G:p.E240E 0.088 0.064 0.088 0.071 0.17 0.058 0.1217 0.0780 0.0662 0.0692 0.1101 0.1568 0.1280 0.0780 0.13 0.081 0.16 0.098 0.074 rs35983049 COSM3759880 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1214 0.0794 0.0745 0.1415 0.0671 0.1074 0.1624 0.1355 0.0769 0.1192 0.0786 0.0752 0.1556 0.0748 0.1094 0.1502 0.1395 het 1357.23 101 3 179051472 . A G 1357.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.265;DP=101;Dels=0.00;FS=0.758;HRun=0;HaplotypeScore=2.6975;MQ=58.78;MQ0=0;MQRankSum=0.357;QD=13.44;ReadPosRankSum=-0.642;VQSLOD=6.1226;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,52:101:99:1387,0,1355 3 179096508 179096508 C G exonic MFN1 nonsynonymous SNV MFN1:NM_033540:exon14:c.C1568G:p.P523R 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1 0.9989 1 . . . 1. 1. rs7637065 COSM4590726 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1 0.9998 1.0000 1.0000 1 1 1 1 1 1 0.9990 hom 2106.37 71 3 179096508 . C G 2106.37 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=29.67;VQSLOD=8.6070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2139,178,0 3 179137273 179137273 A G exonic GNB4 synonymous SNV GNB4:NM_021629:exon4:c.T117C:p.S39S 0.47 0.45 0.51 0.44 0.5 0.5 0.4731 0.4414 0.4923 0.4446 0.5029 0.4647 0.4648 0.5168 0.47 0.46 0.47 0.49 0.37 rs1362650 COSM4418275 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000246315.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4763 0.4479 0.5043 0.4764 0.4286 0.4996 0.4642 0.4741 0.5139 0.4702 0.4530 0.4820 0.4533 0.4283 0.5101 0.4731 0.5010 het 2412.35 203 3 179137273 . A G 2412.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.525;DP=203;DS;Dels=0.00;FS=10.724;HRun=1;HaplotypeScore=5.5520;MQ=59.06;MQ0=0;MQRankSum=-0.470;QD=11.88;ReadPosRankSum=-0.278;VQSLOD=4.2799;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:101,102:203:99:2442,0,2741 3 179143941 179143941 A G exonic GNB4 synonymous SNV GNB4:NM_021629:exon2:c.T48C:p.N16N 0.023 0.022 0.052 0.001 0.036 0.014 0.0338 0.0269 0.0331 0 0.0231 0.0435 0.0477 0.0205 0.035 0.024 0.041 0.054 0.049 rs1078749 . . Benign Charcot-Marie-Tooth_disease\x2c_dominant_intermediate_F RCV000472208.1 MedGen:OMIM:Orphanet C3554654:615185:ORPHA352670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0333 0.0257 0.0295 0.0766 0 0.0228 0.0407 0.0620 0.0204 0.0305 0.0268 0.0406 0.0828 0.0006 0.0246 0.0348 0.0429 het 782.19 84 3 179143941 . A G 782.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.735;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6900;MQ=58.50;MQ0=0;MQRankSum=0.687;QD=9.31;ReadPosRankSum=0.394;VQSLOD=5.9041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,33:84:99:812,0,1229 3 179298999 179298999 C T exonic ACTL6A synonymous SNV ACTL6A:NM_004301:exon11:c.C1017T:p.D339D,ACTL6A:NM_177989:exon11:c.C891T:p.D297D,ACTL6A:NM_178042:exon11:c.C891T:p.D297D 0.68 0.55 0.67 0.89 0.62 0.71 0.6516 0.5511 0.6368 0.8940 0.6244 0.6300 0.6740 0.6955 0.6 0.56 0.63 0.69 0.65 rs1132429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6558 0.5482 0.6434 0.6945 0.8956 0.6231 0.6286 0.6609 0.6973 0.6159 0.5391 0.6199 0.7152 0.8980 0.6109 0.6273 0.6445 hom 5741.11 186 3 179298999 . C T 5741.11 Mask AC=2;AF=1.00;AN=2;DP=186;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=30.87;VQSLOD=8.6633;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5740,463,0 3 179306775 179306775 C T exonic MRPL47 nonsynonymous SNV MRPL47:NM_177988:exon6:c.G308A:p.R103H,MRPL47:NM_020409:exon7:c.G638A:p.R213H 0.12 0.11 0.15 0.1 0.08 0.18 0.1008 0.0963 0.1757 0.1018 0.0809 0.0735 0.1029 0.1684 0.083 0.092 0.078 0.23 0.041 rs10513762 COSM149520 2(haematopoietic_and_lymphoid_tissue);1(stomach);3(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.475 0.123 T 0.971 0.552 D 0.424 0.434 B 0.419 0.129 N 1 0.090 P 1.1 0.281 L 1.42 0.475 T -2.34 0.593 N 0.042 0.107 -1.083 0.067 T 0.001 0.002 T . . . 1.086 0.198 11.14 0.835 0.142 0.253 0.224 N c -0.715 -0.828 0.105 0.165 0.732 0.924 0 -2.01 0.070 1.092 0.303 -0.281 0.084 0.555 0.272 0.638 0.296 4.352 0.105 . ENSG00000136522.9 Adipose_Subcutaneous 0.1032 0.0963 0.1713 0.0627 0.1010 0.0845 0.0754 0.0895 0.1646 0.0908 0.0982 0.1519 0.0695 0.1077 0.0852 0.0819 0.1079 het 377.72 63 3 179306775 . C T 377.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.712;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=58.33;MQ0=0;MQRankSum=0.145;QD=6.00;ReadPosRankSum=0.190;VQSLOD=5.5415;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,18:63:99:408,0,1162 3 179424862 179424862 A G exonic USP13 synonymous SNV USP13:NM_003940:exon5:c.A618G:p.P206P 0.05 0.059 0.04 0.003 0.065 0.079 0.0528 0.0508 0.0235 0.0012 0.0392 0.0616 0.0595 0.0714 0.061 0.046 0.069 0.033 0.041 rs16830742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0526 0.0508 0.0287 0.0395 0.0023 0.0416 0.0662 0.0542 0.0709 0.0532 0.0534 0.0322 0.0331 0.0019 0.0404 0.0637 0.0458 het 933.77 95 3 179424862 . A G 933.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.005;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6176;MQ=58.90;MQ0=0;MQRankSum=1.098;QD=9.83;ReadPosRankSum=0.071;VQSLOD=6.4658;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,42:95:99:964,0,1353 3 180334623 180334623 C T exonic CCDC39 synonymous SNV CCDC39:NM_181426:exon17:c.G2397A:p.V799V 0.13 0.15 0.21 0.002 0.21 0.096 0.1764 0.1583 0.1790 0.0017 0.2488 0.2085 0.1670 0.1195 0.18 0.15 0.2 0.14 . rs7612917 . . Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000150244.2|RCV000354412.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1762 0.1544 0.1827 0.1555 0.0016 0.2478 0.2072 0.1870 0.1193 0.1904 0.1565 0.1854 0.1523 0.0019 0.2560 0.2144 0.2194 het 383.72 24 3 180334623 . C T 383.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.929;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=0.765;QD=15.99;ReadPosRankSum=0.092;VQSLOD=7.0920;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,16:24:99:414,0,220 3 180365956 180365956 G A exonic CCDC39 synonymous SNV CCDC39:NM_181426:exon10:c.C1359T:p.S453S 0.32 0.74 0.29 0.004 0.25 0.17 0.2579 0.6574 0.2369 0.0042 0.2423 0.2436 0.2352 0.2086 0.35 0.63 0.22 0.4 . rs6769457 . . Benign|Benign\x2cUncertain significance not_specified|Primary_ciliary_dyskinesia\x2cPrimary_ciliary_dyskinesia RCV000150247.2|RCV000392697.1\x2cRCV000298866.1 MedGen|MedGen:Orphanet\x2cMedGen:Orphanet CN169374|C0008780:ORPHA244\x2cC0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2362 0.6561 0.2316 0.1900 0.0034 0.2359 0.2292 0.2523 0.2005 0.3351 0.6396 0.2422 0.2067 0.0049 0.2434 0.2283 0.2551 het 395.36 36 3 180365956 . G A 395.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.183;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.46;MQ0=0;MQRankSum=-0.127;QD=10.98;ReadPosRankSum=-0.380;VQSLOD=6.8751;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,17:36:99:425,0,546 3 182681740 182681740 C T exonic DCUN1D1 synonymous SNV DCUN1D1:NM_001308101:exon3:c.G273A:p.A91A,DCUN1D1:NM_020640:exon3:c.G318A:p.A106A 0.61 0.73 0.7 0.27 0.74 0.61 0.6885 0.7395 0.6618 0.2779 0.7709 0.7489 0.6784 0.6133 0.76 0.74 0.76 0.56 0.75 rs4859146 COSM3945191 1(haematopoietic_and_lymphoid_tissue);1(lung) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6877 0.7381 0.6614 0.6354 0.2844 0.7687 0.7595 0.6986 0.6127 0.7363 0.7379 0.6966 0.6291 0.2701 0.7646 0.7835 0.7352 hom 3937.03 133 3 182681740 . C T 3937.03 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.88;MQ0=0;QD=29.60;VQSLOD=7.8747;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3936,304,0 3 182755209 182755209 T G exonic MCCC1 nonsynonymous SNV MCCC1:NM_001293273:exon11:c.A1040C:p.H347P,MCCC1:NM_020166:exon13:c.A1391C:p.H464P 0.46 0.19 0.63 0.33 0.73 0.57 0.6248 0.2699 0.5595 0.3327 0.7372 0.7230 0.6630 0.6015 0.58 0.29 0.74 0.41 0.67 rs2270968 COSM4002526 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|3-MCC_Deficiency RCV000081992.4|RCV000262405.1 MedGen|MedGen CN169374|CN239165 Blood metabolite levels . -0.03 24816252 rs2270968 1E-16 0.276 0.157 T 0.001 0.067 B 0.003 0.093 B 0.000 0.629 D 0.887 0.279 P -0.875 0.014 N -1.43 0.807 T -1.37 0.340 N 0.308 0.471 -0.918 0.458 T 0.000 0.000 T . . . 2.160 0.321 17.25 0.867 0.162 0.918 0.540 D c -0.662 -0.374 0.001 0.079 0.707 0.730 0 3.51 0.391 1.116 0.306 0.144 0.231 1.000 0.715 0.986 0.517 8.309 0.310 ATP-grasp fold\x2c subdomain 2|Biotin carboxylase\x2c C-terminal|Biotin carboxylation domain|Rudiment single hybrid motif ENSG00000078070.7|ENSG00000078070.7|ENSG00000243368.2|ENSG00000078070.7 Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial 0.6296 0.2607 0.5565 0.6745 0.3284 0.7408 0.7288 0.6588 0.6018 0.5791 0.2691 0.5706 0.6567 0.3284 0.7285 0.7439 0.6745 hom 2254.10 69 3 182755209 . T G 2254.10 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8658;MQ=58.14;MQ0=0;QD=32.67;VQSLOD=8.8494;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2287,178,0 3 182790249 182790249 G A exonic MCCC1 synonymous SNV MCCC1:NM_020166:exon5:c.C396T:p.L132L 0.92 0.78 0.96 1. 0.93 0.96 0.9297 0.7930 0.9577 0.9997 0.9375 0.9317 0.9383 0.9469 0.89 0.8 0.93 0.87 0.7 rs7622479 . . Benign|Benign not_specified|3-MCC_Deficiency RCV000081994.5|RCV000291937.1 MedGen|MedGen CN169374|CN239165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9324 0.7906 0.9555 0.9001 0.9998 0.9376 0.9327 0.9254 0.9464 0.8975 0.7861 0.9427 0.9139 1 0.9327 0.9382 0.9276 hom 2321.17 71 3 182790249 . G A 2321.17 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2233;MQ=58.99;MQ0=0;QD=32.69;VQSLOD=8.6070;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2354,187,0 3 182853670 182853670 T C exonic LAMP3 nonsynonymous SNV LAMP3:NM_014398:exon5:c.A952G:p.I318V 0.5 0.22 0.5 0.47 0.72 0.65 0.6483 0.2843 0.4773 0.5081 0.7619 0.7344 0.6987 0.6745 0.59 0.3 0.74 0.41 0.66 rs482912 COSM4157457 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.398 0.045 N 0.146 0.353 P -0.315 0.036 N 1.41 0.334 T 0.16 0.052 N 0.022 0.022 -0.967 0.378 T 0.000 0.000 T . . . -1.618 0.014 0.002 0.270 0.013 0.009 0.036 N c -1.555 -1.492 0.000 0.053 0.707 0.730 0 -1.37 0.085 -0.652 0.054 -0.037 0.125 0.000 0.063 0.003 0.074 9.487 0.379 . ENSG00000078070.7|ENSG00000078070.7|ENSG00000078070.7|ENSG00000243368.2 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal 0.6511 0.2777 0.4845 0.7566 0.5063 0.7674 0.7344 0.6668 0.6766 0.6028 0.2827 0.4928 0.7583 0.5292 0.7536 0.7582 0.7010 hom 7286.56 212 3 182853670 . T C 7286.56 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8308;MQ=59.80;MQ0=0;QD=34.37;VQSLOD=9.7281;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:212:99:7286,569,0 3 182871962 182871962 C T exonic LAMP3 synonymous SNV LAMP3:NM_014398:exon2:c.G267A:p.A89A 0.79 0.78 0.83 0.72 0.83 0.78 0.8076 0.7960 0.8103 0.7499 0.8216 0.8238 0.8018 0.7728 0.82 0.79 0.83 0.74 0.86 rs653316 COSM4157458 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8083 0.7924 0.8126 0.8191 0.7475 0.8194 0.8259 0.8029 0.7715 0.8146 0.7976 0.8091 0.7967 0.7450 0.8187 0.8311 0.8224 hom 3684.34 113 3 182871962 . C T 3684.34 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4207;MQ=59.67;MQ0=0;QD=32.60;VQSLOD=9.1219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3684,289,0 3 182925404 182925404 T C exonic MCF2L2 nonsynonymous SNV MCF2L2:NM_015078:exon23:c.A2704G:p.T902A 0.91 0.78 0.94 1. 0.92 0.97 0.9270 0.7865 0.9600 1 0.9389 0.9231 0.9405 0.9642 0.88 0.79 0.92 0.87 0.93 rs6804951 . . . . . . . . . . . . . 0.529 0.070 T 0.0 0.026 B 0.0 0.013 B 0.002 0.384 N 1.000 0.182 P 0 0.065 N 2.8 0.111 T 0.28 0.042 N 0.01 0.001 -0.999 0.302 T 0.000 0.000 T . . . 0.260 0.119 5.302 0.457 0.036 0.290 0.235 N c -1.291 -1.108 0.072 0.156 0.487 0.133 0 3.58 0.400 3.231 0.507 -0.540 0.048 0.885 0.308 0.913 0.390 5.714 0.171 PH domain-like|Pleckstrin homology domain . . 0.9314 0.7885 0.9564 0.8590 0.9999 0.9425 0.9279 0.9248 0.9654 0.8946 0.7892 0.9523 0.8543 1 0.9408 0.9282 0.9408 het 1744.86 118 3 182925404 . T C 1744.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.691;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4639;MQ=59.61;MQ0=0;MQRankSum=0.359;QD=14.79;ReadPosRankSum=0.284;VQSLOD=4.4891;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,64:118:99:1775,0,1311 3 183211906 183211906 A G exonic KLHL6 synonymous SNV KLHL6:NM_130446:exon5:c.T1311C:p.N437N 0.7 0.87 0.58 0.8 0.48 0.67 0.5610 0.8153 0.6218 0.7976 0.3831 0.4760 0.5892 0.6478 0.58 0.8 0.47 0.74 0.36 rs1520101 COSM3759881 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5556 0.8202 0.6132 0.5316 0.7964 0.3907 0.4750 0.5374 0.6492 0.5713 0.8114 0.6065 0.5667 0.7741 0.3972 0.4564 0.4501 het 2808.06 240 3 183211906 . A G 2808.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.743;DP=240;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2611;MQ=59.73;MQ0=0;MQRankSum=-0.979;QD=11.70;ReadPosRankSum=-0.462;VQSLOD=6.2578;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,115:240:99:2838,0,3376 3 183212026 183212026 C T exonic KLHL6 synonymous SNV KLHL6:NM_130446:exon5:c.G1191A:p.S397S 0.15 0.24 0.12 0.0069 0.18 0.16 0.1788 0.2264 0.1030 0.0135 0.1373 0.2067 0.2097 0.1906 0.21 0.23 0.2 0.12 0.13 rs2256061 COSM3759882 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1728 0.2258 0.1069 0.1678 0.0146 0.1371 0.2114 0.1900 0.1910 0.1841 0.2286 0.1468 0.1589 0.0166 0.1391 0.1910 0.1605 het 2215.15 165 3 183212026 . C T 2215.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.549;DP=165;Dels=0.00;FS=2.013;HRun=1;HaplotypeScore=5.5667;MQ=59.51;MQ0=0;MQRankSum=-0.477;QD=13.43;ReadPosRankSum=1.387;VQSLOD=4.8627;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,82:165:99:2245,0,1941 3 183368216 183368216 A T exonic KLHL24 synonymous SNV KLHL24:NM_001349415:exon2:c.A72T:p.R24R,KLHL24:NM_001349421:exon2:c.A72T:p.R24R,KLHL24:NM_001349423:exon2:c.A72T:p.R24R,KLHL24:NM_001349426:exon2:c.A72T:p.R24R,KLHL24:NM_001349413:exon3:c.A72T:p.R24R,KLHL24:NM_001349414:exon3:c.A72T:p.R24R,KLHL24:NM_001349416:exon3:c.A72T:p.R24R,KLHL24:NM_001349422:exon3:c.A72T:p.R24R,KLHL24:NM_001349424:exon3:c.A72T:p.R24R,KLHL24:NM_001349425:exon3:c.A72T:p.R24R,KLHL24:NM_017644:exon3:c.A72T:p.R24R,KLHL24:NM_001349417:exon4:c.A72T:p.R24R,KLHL24:NM_001349418:exon4:c.A72T:p.R24R,KLHL24:NM_001349419:exon4:c.A72T:p.R24R,KLHL24:NM_001349420:exon4:c.A72T:p.R24R,KLHL24:NM_001349427:exon4:c.A72T:p.R24R 0.35 0.51 0.28 0.44 0.27 0.18 0.2857 0.4974 0.2882 0.4672 0.2158 0.2603 0.2919 0.1896 0.35 0.48 0.28 0.39 0.21 rs3755648 COSM149525 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2846 0.4965 0.2963 0.2678 0.4741 0.2267 0.2623 0.2802 0.1894 0.3281 0.4961 0.3043 0.3013 0.5043 0.2343 0.2416 0.2337 het 1110.28 88 3 183368216 . A T 1110.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.869;DP=88;Dels=0.00;FS=0.811;HRun=0;HaplotypeScore=2.3883;MQ=58.93;MQ0=0;MQRankSum=0.100;QD=12.62;ReadPosRankSum=-0.669;VQSLOD=5.8452;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,41:88:99:1140,0,1185 3 183368891 183368891 C T exonic KLHL24 synonymous SNV KLHL24:NM_001349415:exon2:c.C747T:p.H249H,KLHL24:NM_001349421:exon2:c.C747T:p.H249H,KLHL24:NM_001349423:exon2:c.C747T:p.H249H,KLHL24:NM_001349426:exon2:c.C747T:p.H249H,KLHL24:NM_001349413:exon3:c.C747T:p.H249H,KLHL24:NM_001349414:exon3:c.C747T:p.H249H,KLHL24:NM_001349416:exon3:c.C747T:p.H249H,KLHL24:NM_001349422:exon3:c.C747T:p.H249H,KLHL24:NM_001349424:exon3:c.C747T:p.H249H,KLHL24:NM_001349425:exon3:c.C747T:p.H249H,KLHL24:NM_017644:exon3:c.C747T:p.H249H,KLHL24:NM_001349417:exon4:c.C747T:p.H249H,KLHL24:NM_001349418:exon4:c.C747T:p.H249H,KLHL24:NM_001349419:exon4:c.C747T:p.H249H,KLHL24:NM_001349420:exon4:c.C747T:p.H249H,KLHL24:NM_001349427:exon4:c.C747T:p.H249H 0.35 0.52 0.29 0.44 0.27 0.18 0.2904 0.4948 0.2904 0.4672 0.2214 0.2663 0.2952 0.1941 0.35 0.49 0.28 0.39 0.22 rs2293031 COSM3759883 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2892 0.4978 0.2983 0.2851 0.4740 0.2329 0.2673 0.2863 0.1939 0.3317 0.4982 0.3103 0.3013 0.5043 0.2384 0.2464 0.2388 het 927 79 3 183368891 . C T 927 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.503;DP=79;Dels=0.00;FS=3.087;HRun=0;HaplotypeScore=1.6598;MQ=60.00;MQ0=0;MQRankSum=-1.253;QD=11.73;ReadPosRankSum=0.221;VQSLOD=6.0284;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:957,0,1085 3 183432983 183432983 C T exonic YEATS2 synonymous SNV YEATS2:NM_001351369:exon2:c.C33T:p.T11T,YEATS2:NM_001351370:exon2:c.C33T:p.T11T,YEATS2:NM_001351371:exon2:c.C33T:p.T11T,YEATS2:NM_018023:exon2:c.C33T:p.T11T 0.19 0.14 0.33 0.29 0.14 0.11 0.1759 0.1554 0.3295 0.3089 0.1543 0.1525 0.1878 0.1130 0.16 0.15 0.16 0.27 0.18 rs3736535 COSM3746616;COSM3746617 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1842 0.1541 0.3277 0.1176 0.3119 0.1594 0.1564 0.1780 0.1130 0.1758 0.1644 0.2947 0.1490 0.3149 0.1590 0.1649 0.1786 het 2912.52 243 3 183432983 . C T 2912.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.860;DP=243;Dels=0.00;FS=3.594;HRun=0;HaplotypeScore=7.1141;MQ=59.06;MQ0=0;MQRankSum=0.731;QD=11.99;ReadPosRankSum=0.559;VQSLOD=4.9404;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,123:243:99:2943,0,2814 3 183476685 183476685 G A exonic YEATS2 nonsynonymous SNV YEATS2:NM_001351369:exon13:c.G1588A:p.V530I,YEATS2:NM_001351370:exon13:c.G1591A:p.V531I,YEATS2:NM_001351371:exon13:c.G1588A:p.V530I,YEATS2:NM_018023:exon13:c.G1588A:p.V530I 0.43 0.26 0.45 0.52 0.45 0.51 0.4372 0.2873 0.4858 0.5089 0.3201 0.4416 0.4289 0.4845 0.39 0.28 0.44 0.47 0.39 rs262993 COSM3759884;COSM3759885 1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.094 0.238 B 0.01 0.139 B 0.088 0.205 N 1.000 0.189 P 0 0.065 N 1.59 0.288 T -0.31 0.121 N 0.018 0.003 -0.957 0.398 T 0.000 0.000 T . . . 4.036 0.542 23.7 0.996 0.754 0.950 0.628 D c -0.069 0.139 0.255 0.187 0.707 0.730 0 4.15 0.478 5.468 0.663 0.998 0.613 1.000 0.715 0.951 0.427 14.675 0.684 . ENSG00000180834.3|ENSG00000180834.3|ENSG00000233885.3|ENSG00000180834.3|ENSG00000233885.3|ENSG00000180834.3|ENSG00000180834.3|ENSG00000180834.3|ENSG00000180834.3|ENSG00000233885.3|ENSG00000233885.3|ENSG00000233885.3|ENSG00000233885.3|ENSG00000180834.3|ENSG00000233885.3|ENSG00000180834.3|ENSG00000180834.3 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.4303 0.2802 0.4676 0.4858 0.4963 0.3251 0.4375 0.4392 0.4713 0.3843 0.2855 0.4582 0.4801 0.4913 0.3511 0.4309 0.4012 het 2097.60 180 3 183476685 . G A 2097.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.982;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9525;MQ=58.48;MQ0=0;MQRankSum=1.672;QD=11.65;ReadPosRankSum=0.939;VQSLOD=5.8720;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,90:180:99:2128,0,2201 3 183493744 183493746 GGA - exonic YEATS2 nonframeshift deletion YEATS2:NM_001351369:exon18:c.2410_2412del:p.G814del,YEATS2:NM_001351370:exon18:c.2413_2415del:p.G815del,YEATS2:NM_001351371:exon18:c.2410_2412del:p.G814del,YEATS2:NM_018023:exon18:c.2410_2412del:p.G814del . . . . . . 0.4485 0.3679 0.4897 0.4917 0.3576 0.4532 0.4447 0.4634 . . . . . rs757328974 COSM4589980;COSM1484898 1(kidney);22(upper_aerodigestive_tract);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4321 0.3553 0.4634 0.4529 0.4749 0.3547 0.4380 0.4366 0.4397 0.4173 0.3679 0.4681 0.5102 0.4880 0.3655 0.4456 0.4203 het 1086.43 114 3 183493743 . CGGA C 1086.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.692;DP=114;FS=8.981;HRun=0;HaplotypeScore=439.3048;MQ=60.45;MQ0=0;MQRankSum=0.753;QD=9.53;ReadPosRankSum=-0.515;set=variant2 GT:AD:DP:GQ:PL 0/1:80,33:114:99:1125,0,1286 3 183660585 183660585 G A exonic ABCC5 synonymous SNV ABCC5:NM_001320032:exon25:c.C2208T:p.L736L,ABCC5:NM_005688:exon25:c.C3624T:p.L1208L 0.25 0.19 0.27 0.44 0.18 0.19 0.2010 0.1809 0.2400 0.4372 0.2136 0.1726 0.2056 0.1717 0.17 0.16 0.17 0.22 0.16 rs3749442 COSM4808734 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2040 0.1841 0.2371 0.1231 0.4345 0.2153 0.1754 0.2037 0.1705 0.1939 0.1749 0.1957 0.1159 0.4491 0.2327 0.1717 0.1684 hom 4032.73 126 3 183660585 . G A 4032.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.705;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=58.99;MQ0=0;MQRankSum=0.440;QD=32.01;ReadPosRankSum=-0.412;VQSLOD=9.6453;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,125:126:99:4032,316,0 3 183685534 183685534 A G exonic ABCC5 synonymous SNV ABCC5:NM_001320032:exon12:c.T366C:p.C122C,ABCC5:NM_005688:exon12:c.T1782C:p.C594C 0.69 0.79 0.6 0.86 0.57 0.57 0.5870 0.7769 0.5141 0.8640 0.4856 0.5539 0.5933 0.5549 0.63 0.77 0.56 0.65 0.46 rs939336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5818 0.7804 0.5248 0.5493 0.8596 0.5017 0.5563 0.5763 0.5515 0.6195 0.7659 0.5132 0.5331 0.8705 0.5243 0.5433 0.5235 hom 6174.29 193 3 183685534 . A G 6174.29 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.361;DP=193;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.28;MQ0=0;MQRankSum=0.523;QD=31.99;ReadPosRankSum=-0.541;VQSLOD=9.7382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,192:193:99:6138,458,0 3 183696402 183696402 A G exonic ABCC5 synonymous SNV ABCC5:NM_005688:exon9:c.T1185C:p.A395A 0.68 0.75 0.59 0.85 0.57 0.57 0.5821 0.7372 0.5112 0.8544 0.4855 0.5539 0.5911 0.5502 0.62 0.73 0.56 0.67 0.46 rs1132776 COSM3759886 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5777 0.7407 0.5228 0.5492 0.8511 0.5016 0.5562 0.5744 0.5462 0.6070 0.7247 0.5084 0.5331 0.8591 0.5241 0.5432 0.5215 hom 1591.47 53 3 183696402 . A G 1591.47 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.471;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7878;MQ=59.65;MQ0=0;MQRankSum=1.667;QD=30.03;ReadPosRankSum=1.405;VQSLOD=6.7785;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,52:53:99:1624,108,0 3 183755822 183755822 G A exonic HTR3D nonsynonymous SNV HTR3D:NM_182537:exon4:c.G155A:p.R52H,HTR3D:NM_001145143:exon6:c.G530A:p.R177H,HTR3D:NM_001163646:exon6:c.G674A:p.R225H 0.76 0.86 0.71 0.92 0.65 0.63 0.6623 0.8264 0.6508 0.9194 0.5320 0.6330 0.6399 0.6039 0.7 0.82 0.64 0.84 0.55 rs1000952 COSM3759890;COSM3759889;COSM3759891 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.063 0.531 T 0.998 0.715 D 0.753 0.543 P 0.000 0.460 N 1.000 0.249 P 1.385 0.346 L -1.05 0.931 T -2.94 0.700 D 0.147 0.174 -0.944 0.421 T 0.000 0.000 T . . . 3.528 0.482 23.1 0.976 0.342 0.813 0.405 D c -0.536 -0.678 0.798 0.241 0.556 0.300 0 0.149 0.141 0.252 0.179 0.268 0.268 0.407 0.260 0.006 0.095 . . Neurotransmitter-gated ion-channel ligand-binding domain ENSG00000114770.12|ENSG00000114770.12 Esophagus_Mucosa|Whole_Blood 0.6581 0.8329 0.6570 0.7103 0.9175 0.5455 0.6282 0.6543 0.6008 0.6801 0.8212 0.6595 0.6722 0.9196 0.5684 0.6050 0.5920 hom 3001.41 94 3 183755822 . G A 3001.41 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=58.91;MQ0=0;QD=31.93;VQSLOD=8.8746;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3034,244,0 3 183756702 183756702 G A exonic HTR3D nonsynonymous SNV HTR3D:NM_182537:exon6:c.G779A:p.R260H,HTR3D:NM_001145143:exon8:c.G1154A:p.R385H,HTR3D:NM_001163646:exon8:c.G1304A:p.R435H 0.68 0.84 0.65 0.75 0.59 0.5 0.6006 0.7880 0.6154 0.7573 0.5042 0.5854 0.5672 0.4918 0.65 0.78 0.59 0.79 0.49 rs6789754 COSM3759893;COSM3759894;COSM3759892 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.16 0.268 T 0.796 0.428 P 0.16 0.331 B 0.656 0.105 N 1 0.090 P 1.5 0.380 L -1.55 0.817 D -3.24 0.657 D 0.054 0.259 -0.916 0.461 T 0.000 0.000 T . . . 3.152 0.438 22.6 0.985 0.415 0.107 0.160 N c -0.483 -0.472 0.167 0.177 0.497 0.185 0 1.16 0.198 2.383 0.438 0.880 0.385 0.051 0.212 0.982 0.498 4.145 0.096 Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel transmembrane domain . . 0.5975 0.7965 0.6188 0.6249 0.7535 0.5156 0.5833 0.5945 0.4903 0.6341 0.7870 0.6148 0.6026 0.7671 0.5381 0.5602 0.5524 hom 7383.08 249 3 183756702 . G A 7383.08 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=51.59;MQ0=4;QD=29.65;VQSLOD=3.1275;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7382,593,0 3 183823576 183823576 T C exonic HTR3E synonymous SNV HTR3E:NM_001256614:exon5:c.T822C:p.S274S,HTR3E:NM_198314:exon5:c.T744C:p.S248S,HTR3E:NM_182589:exon6:c.T789C:p.S263S,HTR3E:NM_198313:exon6:c.T699C:p.S233S,HTR3E:NM_001256613:exon7:c.T744C:p.S248S 1. 1. 1. 1. 1. 1. 0.9973 0.9994 0.9992 1 0.9932 0.9966 1 0.9976 1. 1. 1. 1. 1. rs4912524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9995 0.9994 1 1 0.9940 0.9959 0.9987 0.9977 0.9967 0.9989 0.9988 1 1 0.9946 0.9958 0.9898 hom 6102.69 181 3 183823576 . T C 6102.69 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7302;MQ=59.41;MQ0=0;QD=33.72;VQSLOD=6.7149;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:6102,472,0 3 183861243 183861243 A G exonic EIF2B5 nonsynonymous SNV EIF2B5:NM_003907:exon13:c.A1759G:p.I587V 0.39 0.33 0.36 0.53 0.3 0.44 0.3498 0.3288 0.3901 0.5240 0.3197 0.3138 0.3359 0.4021 0.33 0.33 0.33 0.29 0.32 rs843358 COSM3759899 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Leukoencephalopathy_with_vanishing_white_matter RCV000080353.8|RCV000313724.1 MedGen|MedGen:OMIM CN169374|C1858991:603896 . . . . . . 0.27 0.162 T 0.591 0.372 P 0.163 0.332 B 0.000 0.843 D 0.000 0.588 P 0.735 0.189 N -1.55 0.817 D -0.19 0.100 N 0.236 0.312 -0.973 0.365 T 0.000 0.000 T . . . 2.254 0.332 17.86 0.983 0.391 0.955 0.647 D c -0.022 0.151 1.000 0.747 0.742 0.982 0 5.72 0.893 5.207 0.648 1.088 0.866 1.000 0.715 0.999 0.750 16.015 0.801 Armadillo-type fold|MIF4G-like domain|W2 domain ENSG00000161203.9|ENSG00000161202.13|ENSG00000161202.13|ENSG00000161202.13|ENSG00000161203.9|ENSG00000161202.13|ENSG00000161204.7|ENSG00000161202.13 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial 0.3508 0.3213 0.3829 0.2752 0.5246 0.3091 0.3203 0.3283 0.4018 0.3333 0.3159 0.3600 0.2815 0.5411 0.2913 0.3307 0.3296 het 1751.43 129 3 183861243 . A G 1751.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.450;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.46;MQ0=0;MQRankSum=-0.809;QD=13.58;ReadPosRankSum=0.709;VQSLOD=6.6509;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,72:129:99:1781,0,1444 3 183896641 183896641 T C exonic AP2M1 unknown UNKNOWN 0.42 0.18 0.38 0.57 0.47 0.57 0.4673 0.2251 0.3650 0.5586 0.5014 0.4860 0.4688 0.5460 0.4 0.22 0.49 0.34 0.5 rs2231216 COSM4416704 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4636 0.2180 0.3669 0.3722 0.5597 0.4948 0.4925 0.4442 0.5442 0.4186 0.2175 0.3421 0.3576 0.5888 0.4923 0.5014 0.4888 het 1229.57 89 3 183896641 . T C 1229.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.743;DP=89;Dels=0.00;FS=0.850;HRun=3;HaplotypeScore=2.2829;MQ=59.45;MQ0=1;MQRankSum=0.285;QD=13.82;ReadPosRankSum=0.412;VQSLOD=6.8055;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,45:89:99:1260,0,1169 3 183908982 183908982 C T exonic ABCF3 nonsynonymous SNV ABCF3:NM_001351298:exon16:c.C1490T:p.P497L,ABCF3:NM_001351299:exon16:c.C779T:p.P260L,ABCF3:NM_001351300:exon16:c.C845T:p.P282L,ABCF3:NM_018358:exon16:c.C1508T:p.P503L 0.026 0.003 0.04 . 0.05 0.047 0.0300 0.0066 0.0220 0 0.0192 0.0387 0.0419 0.0349 0.032 0.0098 0.043 0.043 0.057 rs11706273 . . . . . . . . . . . . . 0.045 0.408 D 0.051 0.276 B 0.017 0.170 B 0.000 0.629 D 1 0.810 D 1.43 0.360 L -3.02 0.923 D -4.57 0.787 D 0.167 0.467 -0.191 0.779 T 0.282 0.654 T . . . 3.577 0.487 23.2 0.992 0.537 0.958 0.661 D c -0.062 0.037 1.000 0.747 0.719 0.830 0 5.74 0.900 3.750 0.546 0.852 0.362 0.943 0.325 0.539 0.277 18.923 0.925 ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.0296 0.0058 0.0201 0.0302 0 0.0161 0.0406 0.0343 0.0369 0.0227 0.0065 0.0191 0.0199 0.0006 0.0132 0.0363 0.0316 het 4095.54 250 3 183908982 . C T 4095.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.022;DP=250;DS;Dels=0.00;FS=1.011;HRun=0;HaplotypeScore=3.8287;MQ=59.41;MQ0=0;MQRankSum=-1.515;QD=16.38;ReadPosRankSum=0.451;VQSLOD=5.2653;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3426,0,3602 3 183975365 183975365 C T exonic ECE2 nonsynonymous SNV ECE2:NM_014693:exon2:c.C301T:p.H101Y,ECE2:NM_032331:exon2:c.C301T:p.H101Y 0.99 1. 0.99 1. 0.97 1. 0.9811 0.9954 0.9935 0.9999 0.9814 0.9714 0.9901 0.9924 0.98 0.99 0.97 0.98 0.96 rs7633387 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.000 0.588 P 0.2 0.092 N -0.01 0.628 T 0.44 0.041 N 0.123 0.152 -0.955 0.401 T 0.000 0.000 T . . . 1.059 0.196 10.99 0.834 0.142 0.234 0.218 N c -0.521 -0.273 0.997 0.355 0.706 0.609 0 5.88 0.945 2.324 0.432 0.090 0.195 1.000 0.715 0.992 0.562 11.369 0.487 Methyltransferase type 11|S-adenosyl-L-methionine-dependent methyltransferase . . 0.9811 0.9956 0.9928 0.9841 0.9998 0.9812 0.9693 0.9834 0.9924 0.9807 0.9959 0.9916 0.9901 1 0.9823 0.9683 0.9868 hom 3857.90 119 3 183975365 . C T 3857.90 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.367;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9665;MQ=59.61;MQ0=0;MQRankSum=0.899;QD=32.42;ReadPosRankSum=-0.300;VQSLOD=8.2855;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,117:119:99:3857,322,0 3 183976103 183976103 C T exonic ECE2 nonsynonymous SNV ECE2:NM_032331:exon3:c.C508T:p.R170W 0.088 0.0061 0.11 0.069 0.18 0.11 0.1451 0.0278 0.1283 0.0690 0.2105 0.1739 0.1567 0.1270 0.13 0.035 0.17 0.076 0.14 rs11546878 COSM4002532 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.005 0.632 D 0.996 0.670 D 0.649 0.506 P . . . 0.000 0.588 P . . . -0.17 0.656 T -2.89 0.606 D 0.16 0.192 -1.073 0.088 T 0.000 0.002 T . . . 2.209 0.327 17.57 0.999 0.962 0.729 0.354 D c 0.325 0.315 0.754 0.234 0.706 0.609 0 3.1 0.346 2.419 0.441 0.852 0.362 1.000 0.715 1.000 0.888 3.725 0.079 . . . 0.1463 0.0256 0.1295 0.1346 0.0716 0.2143 0.1740 0.1395 0.1226 0.1327 0.0282 0.1205 0.1523 0.0747 0.2136 0.1794 0.1612 het 3222.65 242 3 183976103 . C T 3222.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.380;DP=242;DS;Dels=0.00;FS=0.480;HRun=0;HaplotypeScore=5.6030;MQ=59.71;MQ0=0;MQRankSum=-0.175;QD=13.32;ReadPosRankSum=-0.283;VQSLOD=5.1254;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,115:242:99:3253,0,3313 3 183994447 183994447 C T exonic ECE2 nonsynonymous SNV ECE2:NM_001100120:exon2:c.C218T:p.T73I 0.021 0.0023 0.035 . 0.041 0.039 0.0443 0.0064 0.0415 0.0004 0.0306 0.0551 0.0906 0.0531 0.021 0.0055 0.028 0.022 0.0082 rs13063766 . . . . . . . . . . . . . 0.066 0.433 T 0.001 0.067 B 0.002 0.063 B 0.079 0.023 U 1.000 0.537 D . . . -1.55 0.817 D -0.32 0.320 N 0.058 0.041 -0.877 0.500 T 0.102 0.378 T . . . 2.218 0.328 17.62 0.984 0.404 0.074 0.132 N c -0.952 -0.922 0.337 0.195 0.598 0.340 0 1.36 0.210 0.326 0.192 0.852 0.362 0.000 0.063 0.368 0.249 8.484 0.320 Methyltransferase type 11|S-adenosyl-L-methionine-dependent methyltransferase . . 0.0264 0.0044 0.0215 0.0469 7.659e-05 0.0170 0.0331 0.0350 0.0343 0.0204 0.0048 0.0251 0.0267 0.0006 0.0166 0.0316 0.0276 het 51.66 12 3 183994447 . C T 51.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.555;DP=12;Dels=0.00;FS=3.090;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=4.31;ReadPosRankSum=0.185;VQSLOD=3.7223;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,3:12:81.66:82,0,248 3 183996068 183996068 C T exonic ECE2 synonymous SNV ECE2:NM_001037324:exon5:c.C630T:p.A210A,ECE2:NM_001100120:exon6:c.C855T:p.A285A,ECE2:NM_001100121:exon6:c.C717T:p.A239A,ECE2:NM_014693:exon6:c.C1071T:p.A357A 0.5 0.59 0.61 0.42 0.53 0.36 0.5102 0.6059 0.6693 0.4490 0.4820 0.5075 0.5121 0.3926 0.55 0.61 0.52 0.54 0.5 rs3752904 COSM4002535;COSM4002536;COSM4002537 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5168 0.6044 0.6619 0.6032 0.4433 0.4939 0.5030 0.5274 0.3932 0.5228 0.6009 0.6337 0.6424 0.4338 0.5 0.4858 0.4898 het 1512.79 128 3 183996068 . C T 1512.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.486;DP=128;Dels=0.00;FS=4.280;HRun=0;HaplotypeScore=3.9530;MQ=59.16;MQ0=0;MQRankSum=-0.441;QD=11.82;ReadPosRankSum=0.948;VQSLOD=5.3756;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,64:128:99:1543,0,1678 3 184020542 184020542 G T exonic PSMD2 nonsynonymous SNV PSMD2:NM_001278708:exon5:c.G549T:p.E183D,PSMD2:NM_001278709:exon5:c.G462T:p.E154D,PSMD2:NM_002808:exon7:c.G939T:p.E313D 0.077 0.0061 0.11 0.033 0.16 0.11 0.1310 0.0253 0.1354 0.0258 0.1905 0.1548 0.1457 0.1286 0.12 0.03 0.16 0.065 0.12 rs11545169 . . . . . . . . . . . . . 0.87 0.026 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 D 1.507e-15 0.588 P -0.39 0.030 N 1.8 0.253 T 1.05 0.014 N 0.051 0.040 -0.954 0.404 T 0.000 0.000 T . . . 0.575 0.149 7.980 0.874 0.167 0.870 0.461 D c -0.965 -0.732 1.000 0.462 0.707 0.730 0 1.32 0.208 0.440 0.212 -0.222 0.097 0.997 0.399 0.997 0.653 8.954 0.348 Armadillo-type fold . . 0.1346 0.0237 0.1328 0.1326 0.0268 0.1931 0.1568 0.1358 0.1296 0.1181 0.0259 0.1253 0.1433 0.0234 0.1946 0.1610 0.1531 het 2594.40 215 3 184020542 . G T 2594.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.008;DP=215;Dels=0.00;FS=7.754;HRun=1;HaplotypeScore=8.5180;MQ=59.55;MQ0=0;MQRankSum=-0.942;QD=12.07;ReadPosRankSum=0.634;VQSLOD=3.8895;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,100:215:99:2624,0,3174 3 184037533 184037533 A G exonic EIF4G1 nonsynonymous SNV EIF4G1:NM_198244:exon4:c.A220G:p.T74A,EIF4G1:NM_182917:exon6:c.A481G:p.T161A,EIF4G1:NM_001194947:exon7:c.A502G:p.T168A,EIF4G1:NM_001291157:exon7:c.A361G:p.T121A,EIF4G1:NM_198241:exon7:c.A481G:p.T161A,EIF4G1:NM_001194946:exon8:c.A502G:p.T168A 1. 1. 1. 1. 1. 1. 0.9981 0.9991 0.9989 1 0.9968 0.9972 0.9987 0.9997 1. 1. 1. 0.97 0.92 rs13319149 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.027 0.258 N 0.998 0.258 P -1.22 0.008 N 1.41 0.334 T -0.69 0.197 N 0.06 0.347 -0.983 0.343 T 0.000 0.000 T . . . -0.080 0.086 1.882 0.811 0.131 0.044 0.099 N c -1.291 -1.165 1.000 0.747 0.722 0.854 0 -1.84 0.073 0.747 0.258 0.076 0.183 0.602 0.275 0.953 0.430 5.942 0.183 . . . 0.9980 0.9989 0.9992 0.9995 0.9999 0.9975 0.9967 0.9983 0.9996 0.9975 0.9990 0.9976 1 1 0.9966 0.9967 0.9949 hom 622.14 23 3 184037533 . A G 622.14 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.05;VQSLOD=13.1287;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:54.15:655,54,0 3 184039666 184039666 A G exonic EIF4G1 nonsynonymous SNV EIF4G1:NM_004953:exon3:c.A706G:p.M236V,EIF4G1:NM_198242:exon6:c.A802G:p.M268V,EIF4G1:NM_198244:exon7:c.A1033G:p.M345V,EIF4G1:NM_182917:exon9:c.A1294G:p.M432V,EIF4G1:NM_001194947:exon10:c.A1315G:p.M439V,EIF4G1:NM_001291157:exon10:c.A1174G:p.M392V,EIF4G1:NM_198241:exon10:c.A1294G:p.M432V,EIF4G1:NM_001194946:exon11:c.A1315G:p.M439V 0.78 0.98 0.8 0.65 0.75 0.66 0.7554 0.9532 0.8292 0.6582 0.6838 0.7508 0.7428 0.6775 0.82 0.94 0.76 0.86 0.7 rs2178403 . . . . . . . . . . . . . 0.905 0.048 T 0.0 0.026 B 0.0 0.013 B 0.110 0.026 N 1 0.090 P -0.895 0.014 N 0.07 0.617 T 0.36 0.044 N 0.017 0.208 -0.946 0.418 T 0.000 0.000 T . . . -2.381 0.004 0.001 0.335 0.020 0.005 0.023 N c -1.465 -1.367 1.000 0.747 0.722 0.854 0 2.77 0.315 0.682 0.248 -0.376 0.066 0.005 0.169 0.008 0.104 2.972 0.055 . . . 0.7545 0.9559 0.8238 0.8267 0.6547 0.6954 0.7481 0.7681 0.6754 0.7852 0.9565 0.8162 0.8377 0.6582 0.7049 0.7187 0.7265 het 4166.45 243 3 184039666 . A G 4166.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.628;DP=243;DS;Dels=0.00;FS=7.377;HRun=0;HaplotypeScore=11.3134;MQ=59.27;MQ0=0;MQRankSum=-0.181;QD=17.15;ReadPosRankSum=-1.730;VQSLOD=2.3448;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,126:243:99:3512,0,2959 3 184071063 184071063 G C exonic CLCN2 nonsynonymous SNV CLCN2:NM_001171088:exon16:c.C1871G:p.T624S,CLCN2:NM_001171087:exon17:c.C1952G:p.T651S,CLCN2:NM_001171089:exon17:c.C2003G:p.T668S,CLCN2:NM_004366:exon17:c.C2003G:p.T668S 0.46 0.71 0.37 0.1 0.56 0.46 0.4896 0.6838 0.3177 0.0995 0.4155 0.5496 0.4967 0.4787 0.59 0.68 0.55 0.56 0.48 rs9820367 COSM149533 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(pancreas);1(prostate) Uncertain significance Leukoencephalopathy_with_ataxia RCV000201825.1 MedGen:OMIM:Orphanet C3810242:615651:ORPHA363540 . . . . . . 0.826 0.031 T 0.0 0.026 B 0.0 0.040 B 0.053 0.229 N 0.000 0.588 P -0.475 0.027 N -1.75 0.840 D 0.92 0.018 N 0.009 0.019 -0.935 0.434 T 0.000 0.000 T . . . 0.658 0.157 8.548 0.651 0.075 0.019 0.058 N c -0.873 -0.672 1.000 0.747 0.707 0.730 0 4.72 0.591 1.487 0.349 0.067 0.174 0.025 0.199 0.938 0.411 8.349 0.313 CBS domain . . 0.4739 0.6870 0.3219 0.4759 0.1008 0.4268 0.5545 0.5029 0.4791 0.5310 0.6824 0.3305 0.4603 0.1009 0.4330 0.5293 0.4653 hom 6811.98 216 3 184071063 . G C 6811.98 Mask AC=2;AF=1.00;AN=2;DP=216;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2974;MQ=59.34;MQ0=0;QD=31.54;VQSLOD=6.9639;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6811,527,0 3 184075047 184075047 A G exonic CLCN2 synonymous SNV CLCN2:NM_001171088:exon8:c.T774C:p.I258I,CLCN2:NM_001171087:exon9:c.T906C:p.I302I,CLCN2:NM_001171089:exon9:c.T906C:p.I302I,CLCN2:NM_004366:exon9:c.T906C:p.I302I 0.35 0.47 0.44 0.37 0.24 0.24 0.2922 0.4477 0.4884 0.4025 0.2069 0.2465 0.3137 0.2164 0.31 0.44 0.24 0.38 0.25 rs2228291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2952 0.4491 0.4671 0.3475 0.4053 0.2108 0.2382 0.3096 0.2187 0.3061 0.4514 0.4378 0.3477 0.4169 0.2106 0.2266 0.2613 het 1013.33 71 3 184075047 . A G 1013.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.373;DP=71;Dels=0.00;FS=1.000;HRun=0;HaplotypeScore=3.3264;MQ=59.35;MQ0=0;MQRankSum=0.129;QD=14.27;ReadPosRankSum=-0.529;VQSLOD=6.4659;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,35:71:99:1043,0,897 3 184290348 184290348 G A exonic EPHB3 synonymous SNV EPHB3:NM_004443:exon3:c.G240A:p.V80V 0.058 0.088 0.072 . 0.11 0.014 0.0748 0.0912 0.0428 0 0.0778 0.0956 0.0746 0.0209 0.093 0.086 0.097 0.11 0.082 rs9862375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0719 0.0881 0.0473 0.0949 0 0.0767 0.0960 0.0782 0.0209 0.0802 0.0889 0.0656 0.0993 0 0.0816 0.0847 0.0692 het 959.09 76 3 184290348 . G A 959.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.141;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3745;MQ=58.16;MQ0=1;MQRankSum=1.649;QD=12.62;ReadPosRankSum=-0.175;VQSLOD=4.6959;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:36,40:76:99:989,0,1010 3 184293769 184293769 T C exonic EPHB3 synonymous SNV EPHB3:NM_004443:exon4:c.T1008C:p.C336C 0.34 0.56 0.25 0.17 0.36 0.25 0.3143 0.5461 0.1863 0.1470 0.2282 0.3397 0.3038 0.2776 0.4 0.53 0.33 0.36 0.38 rs7652597 COSM4002539 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3042 0.5514 0.1983 0.4543 0.1453 0.2311 0.3339 0.3328 0.2762 0.3514 0.5369 0.2327 0.4371 0.1298 0.2330 0.3052 0.2720 het 4208.12 237 3 184293769 . T C 4208.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.459;DP=237;DS;Dels=0.00;FS=3.392;HRun=0;HaplotypeScore=7.5397;MQ=59.43;MQ0=0;MQRankSum=-0.123;QD=17.76;ReadPosRankSum=-0.225;VQSLOD=4.1127;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,126:237:99:3578,0,2889 3 184298663 184298663 G A exonic EPHB3 synonymous SNV EPHB3:NM_004443:exon13:c.G2535A:p.Q845Q 0.066 0.11 0.073 . 0.12 0.018 0.0760 0.1065 0.0487 0.0001 0.0800 0.0984 0.0733 0.0234 0.1 0.1 0.1 0.12 0.082 rs11719912 COSM5035120 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0740 0.1037 0.0517 0.0906 0 0.0771 0.0992 0.0873 0.0241 0.0872 0.1065 0.0728 0.0993 0 0.0830 0.0880 0.0706 het 2874.19 221 3 184298663 . G A 2874.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.734;DP=221;Dels=0.00;FS=3.811;HRun=1;HaplotypeScore=6.8375;MQ=59.40;MQ0=0;MQRankSum=-0.889;QD=13.01;ReadPosRankSum=0.310;VQSLOD=4.2787;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,110:221:99:2904,0,3107 3 184299167 184299167 T C exonic EPHB3 synonymous SNV EPHB3:NM_004443:exon15:c.T2859C:p.S953S 0.33 0.55 0.24 0.17 0.35 0.25 0.3079 0.5405 0.1781 0.1482 0.2191 0.3266 0.3051 0.2939 0.39 0.52 0.32 0.35 0.31 rs1138510 COSM4419800 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2935 0.5438 0.1894 0.4317 0.1452 0.2220 0.3206 0.3176 0.2743 0.3421 0.5291 0.2213 0.3974 0.1284 0.2246 0.2943 0.2673 het 1380.70 89 3 184299167 . T C 1380.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.878;DP=89;Dels=0.00;FS=4.643;HRun=1;HaplotypeScore=1.6208;MQ=59.79;MQ0=0;MQRankSum=0.514;QD=15.51;ReadPosRankSum=-2.774;VQSLOD=4.7587;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,47:89:99:1411,0,1128 3 184428903 184428903 T G exonic MAGEF1 nonsynonymous SNV MAGEF1:NM_022149:exon1:c.A707C:p.E236A 0.56 0.51 0.5 0.44 0.76 0.58 0.6446 0.5220 0.4081 0.4239 0.7301 0.7384 0.6865 0.5876 0.67 0.53 0.75 0.55 0.71 rs9872799 COSM4002541 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.028 0.461 D 0.988 0.604 D 0.926 0.644 D 0.000 0.629 D 1 0.090 P 2.75 0.806 M 3.48 0.052 T -4.49 0.780 D 0.101 0.104 -0.980 0.351 T 0.000 0.000 T . . . 2.131 0.317 17.06 0.985 0.415 0.052 0.109 N c -0.336 -0.551 1.000 0.747 0.733 0.969 0 -0.905 0.099 0.789 0.264 1.061 0.807 0.002 0.151 0.156 0.207 4.218 0.099 MAGE homology domain ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.6381 0.5167 0.4228 0.6582 0.4216 0.7265 0.7461 0.6797 0.5848 0.6459 0.5108 0.4833 0.6424 0.4266 0.7122 0.7382 0.7016 het 1124.90 98 3 184428903 . T G 1124.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.793;DP=98;Dels=0.00;FS=2.032;HRun=0;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=2.062;QD=11.48;ReadPosRankSum=1.797;VQSLOD=5.4240;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,40:98:99:1155,0,1731 3 184429133 184429133 - TCC exonic MAGEF1 nonframeshift insertion MAGEF1:NM_022149:exon1:c.476_477insGGA:p.E158_D159insE . . . . . . 0.6201 0.5184 0.3776 0.3754 0.7070 0.7163 0.6560 0.5601 . . . . . rs397720350 COSM1421400 4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6086 0.5223 0.3914 0.6241 0.3798 0.6724 0.7212 0.6491 0.5616 0.6381 0.5234 0.4572 0.6133 0.3884 0.6871 0.7286 0.6874 het 1953.66 95 3 184429133 . A ATCC 1953.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.367;DP=95;FS=3.224;HRun=0;HaplotypeScore=307.5621;MQ=57.28;MQ0=0;MQRankSum=-0.016;QD=20.56;ReadPosRankSum=-2.506;set=variant2 GT:AD:DP:GQ:PL 0/1:61,33:95:99:1993,0,1391 3 184429414 184429414 C A exonic MAGEF1 nonsynonymous SNV MAGEF1:NM_022149:exon1:c.G196T:p.A66S 0.49 0.31 0.47 0.44 0.74 0.56 0.6072 0.3458 0.3859 0.4231 0.7126 0.7070 0.6515 0.5709 0.59 0.35 0.71 0.42 0.66 rs10937187 COSM3759908 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.063 0.219 B 0.026 0.195 B 0.254 0.037 N 1 0.090 P 1.245 0.315 L 3.73 0.040 T 0.46 0.031 N 0.069 0.056 -1.014 0.257 T 0.000 0.000 T . . . 0.048 0.098 3.064 0.764 0.111 0.062 0.120 N c -0.920 -0.960 1.000 0.747 0.442 0.072 0 2.1 0.261 0.980 0.289 0.700 0.299 0.013 0.187 0.023 0.138 5.094 0.140 . ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3|ENSG00000177383.3 Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Thyroid|Whole_Blood 0.6021 0.3348 0.3984 0.6452 0.4209 0.7106 0.7123 0.6435 0.5659 0.5778 0.3381 0.4652 0.6358 0.4253 0.6975 0.7050 0.6684 het 2051.10 154 3 184429414 . C A 2051.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.102;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4499;MQ=59.46;MQ0=0;MQRankSum=-0.268;QD=13.32;ReadPosRankSum=-0.265;VQSLOD=5.6037;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,79:154:99:2081,0,2052 3 184573555 184573555 C T exonic VPS8 synonymous SNV VPS8:NM_001349296:exon12:c.C1053T:p.Y351Y,VPS8:NM_001009921:exon13:c.C1092T:p.Y364Y,VPS8:NM_001349293:exon13:c.C1092T:p.Y364Y,VPS8:NM_001349294:exon13:c.C1092T:p.Y364Y,VPS8:NM_001349295:exon13:c.C1092T:p.Y364Y,VPS8:NM_015303:exon13:c.C1086T:p.Y362Y,VPS8:NM_001349292:exon14:c.C1092T:p.Y364Y 0.55 0.68 0.46 0.66 0.36 0.55 0.4146 0.6336 0.4183 0.6746 0.3933 0.3305 0.3998 0.4953 0.42 0.61 0.33 0.59 . rs6443999 COSM3759910;COSM3759909 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4133 0.6321 0.4219 0.3256 0.6812 0.3981 0.3291 0.3809 0.4964 0.4480 0.6337 0.4390 0.3212 0.6753 0.3876 0.3371 0.3804 het 2751.30 250 3 184573555 . C T 2751.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.936;DP=250;DS;Dels=0.00;FS=3.564;HRun=0;HaplotypeScore=5.8772;MQ=57.92;MQ0=0;MQRankSum=-1.190;QD=11.01;ReadPosRankSum=0.374;VQSLOD=4.1389;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:132,118:250:99:2781,0,3130 3 184633247 184633247 A C exonic VPS8 synonymous SNV VPS8:NM_001349296:exon26:c.A2328C:p.L776L,VPS8:NM_001009921:exon27:c.A2367C:p.L789L,VPS8:NM_001349293:exon27:c.A2367C:p.L789L,VPS8:NM_001349294:exon27:c.A2367C:p.L789L,VPS8:NM_001349295:exon27:c.A2367C:p.L789L,VPS8:NM_001349297:exon27:c.A648C:p.L216L,VPS8:NM_015303:exon27:c.A2361C:p.L787L,VPS8:NM_001349292:exon28:c.A2367C:p.L789L,VPS8:NM_001349298:exon28:c.A567C:p.L189L 0.46 0.36 0.54 0.34 0.63 0.46 0.5748 0.3909 0.5849 0.3283 0.5593 0.6503 0.5940 0.5049 0.58 0.4 0.66 0.4 . rs4686879 COSM4002543;COSM4002542 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5750 0.3919 0.5783 0.6716 0.3198 0.5578 0.6522 0.6077 0.5012 0.5431 0.3929 0.5695 0.68 0.3257 0.5633 0.6413 0.5967 het 557.95 45 3 184633247 . A C 557.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.941;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.65;MQ0=0;MQRankSum=0.715;QD=12.40;ReadPosRankSum=0.148;VQSLOD=6.6109;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:588,0,561 3 184700356 184700356 A C exonic VPS8 synonymous SNV VPS8:NM_001349296:exon39:c.A3384C:p.A1128A,VPS8:NM_001009921:exon40:c.A3423C:p.A1141A,VPS8:NM_001349293:exon40:c.A3423C:p.A1141A,VPS8:NM_001349294:exon40:c.A3423C:p.A1141A,VPS8:NM_001349295:exon40:c.A3423C:p.A1141A,VPS8:NM_001349297:exon40:c.A1704C:p.A568A,VPS8:NM_015303:exon40:c.A3417C:p.A1139A,VPS8:NM_001349292:exon41:c.A3423C:p.A1141A,VPS8:NM_001349298:exon41:c.A1623C:p.A541A 0.85 0.62 0.96 0.89 0.99 0.9 0.9413 0.6597 0.9672 0.9051 0.9797 0.9829 0.9644 0.9244 0.88 0.67 0.98 0.81 . rs4572747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9471 0.6620 0.9672 0.9837 0.9052 0.9787 0.9830 0.9629 0.9222 0.8892 0.6778 0.9714 0.99 0.8974 0.9758 0.9799 0.9541 hom 2644.27 86 3 184700356 . A C 2644.27 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;QD=30.75;VQSLOD=9.1158;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2677,202,0 3 184766301 184766301 T C exonic VPS8 nonsynonymous SNV VPS8:NM_001349296:exon45:c.T4052C:p.I1351T,VPS8:NM_001009921:exon46:c.T4091C:p.I1364T,VPS8:NM_001349293:exon46:c.T4091C:p.I1364T,VPS8:NM_001349294:exon46:c.T4091C:p.I1364T,VPS8:NM_001349295:exon46:c.T4091C:p.I1364T,VPS8:NM_001349297:exon46:c.T2372C:p.I791T,VPS8:NM_015303:exon46:c.T4085C:p.I1362T,VPS8:NM_001349292:exon47:c.T4091C:p.I1364T,VPS8:NM_001349298:exon47:c.T2291C:p.I764T 0.19 0.41 0.14 0.054 0.14 0.11 0.1443 0.3750 0.0758 0.0475 0.1358 0.1439 0.1381 0.1111 0.22 0.36 0.15 0.22 . rs3821750 COSM3759914;COSM3759913 1(large_intestine) . . . . . . . . . . . 0.433 0.201 T 0.0 0.156 B 0.0 0.193 B 0.089 0.204 N 0.995 0.234 P 0.755 0.192 N 2.29 0.171 T -1.28 0.322 N 0.058 0.117 -0.925 0.448 T 0.000 0.000 T . . . 1.479 0.240 13.20 0.983 0.393 0.757 0.368 D c -0.436 -0.187 0.839 0.248 0.706 0.609 0 4.89 0.632 1.812 0.384 1.061 0.807 1.000 0.715 1.000 0.888 8.061 0.296 Zinc finger\x2c RING-type|Zinc finger\x2c RING/FYVE/PHD-type ENSG00000156931.11|ENSG00000156931.11|ENSG00000156931.11|ENSG00000156931.11|ENSG00000156931.11|ENSG00000156931.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Nerve_Tibial|Thyroid 0.1395 0.3764 0.0830 0.0992 0.0455 0.1358 0.1510 0.1243 0.1125 0.2023 0.3676 0.1098 0.0967 0.0407 0.1297 0.1537 0.1152 het 1527.79 114 3 184766301 . T C 1527.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.866;DP=114;Dels=0.00;FS=1.520;HRun=2;HaplotypeScore=3.5726;MQ=58.92;MQ0=0;MQRankSum=-0.319;QD=13.40;ReadPosRankSum=-0.698;VQSLOD=6.1264;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,57:114:99:1558,0,1269 3 184801094 184801094 G A exonic C3orf70 nonsynonymous SNV C3orf70:NM_001025266:exon2:c.C454T:p.P152S 0.063 0.052 0.063 0.053 0.086 0.065 0.0759 0.0583 0.0427 0.0455 0.1077 0.0877 0.0782 0.0657 0.08 0.063 0.088 0.065 0.098 rs61740263 COSM3759915 1(large_intestine) . . . . . . . . . . . 0.213 0.194 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 D 1.000 0.186 P 1.175 0.300 L . . . -5.05 0.827 D 0.039 0.019 -1.103 0.037 T 0.002 0.007 T . . . 0.622 0.153 8.310 0.960 0.278 0.831 0.420 D c -0.458 -0.336 0.042 0.145 0.615 0.372 0 4.04 0.461 1.517 0.352 0.953 0.551 0.763 0.290 0.086 0.183 6.607 0.218 . ENSG00000187068.2|ENSG00000187068.2 Testis|Thyroid 0.0752 0.0568 0.0474 0.0604 0.0427 0.1032 0.0894 0.0713 0.0669 0.0799 0.0550 0.0680 0.0596 0.0438 0.0999 0.0949 0.0754 het 1519.67 95 3 184801094 . G A 1519.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.044;DP=95;Dels=0.00;FS=2.743;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=0.562;QD=16.00;ReadPosRankSum=1.127;VQSLOD=5.9802;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,55:95:99:1550,0,1057 3 185146702 185146702 C T exonic MAP3K13 synonymous SNV MAP3K13:NM_004721:exon2:c.C333T:p.S111S,MAP3K13:NM_001242314:exon3:c.C333T:p.S111S 0.15 0.013 0.14 0.22 0.16 0.25 0.1580 0.0346 0.1146 0.2342 0.1948 0.1502 0.1898 0.2412 0.11 0.039 0.15 0.14 0.13 rs3732577 COSM4157482;COSM4157481 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1579 0.0316 0.1195 0.1445 0.2311 0.1836 0.1491 0.1535 0.2401 0.1241 0.0350 0.1337 0.1126 0.2348 0.1898 0.1460 0.1619 het 1193.22 94 3 185146702 . C T 1193.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.420;DP=94;Dels=0.00;FS=5.500;HRun=0;HaplotypeScore=0.7887;MQ=59.54;MQ0=0;MQRankSum=-0.098;QD=12.69;ReadPosRankSum=1.028;VQSLOD=5.9078;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,47:94:99:1223,0,1147 3 185990096 185990096 C T exonic DGKG nonsynonymous SNV DGKG:NM_001080744:exon11:c.G947A:p.R316K,DGKG:NM_001080745:exon11:c.G947A:p.R316K,DGKG:NM_001346:exon11:c.G947A:p.R316K 0.81 0.92 0.84 0.74 0.8 0.72 0.7935 0.9004 0.8276 0.7292 0.8075 0.7896 0.7896 0.7460 0.82 0.9 0.79 0.86 0.8 rs2193587 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.080 B 0.000 0.629 N 1 0.090 P -0.705 0.018 N -3.01 0.922 D 0.22 0.204 N 0.045 0.025 -0.938 0.430 T 0.000 0.000 T . . . 1.236 0.214 11.94 0.702 0.089 0.060 0.119 N c -1.019 -0.745 0.997 0.351 0.487 0.133 0 3.92 0.444 1.691 0.371 -0.210 0.100 1.000 0.715 0.997 0.653 8.269 0.308 Diacylglycerol/phorbol-ester binding|Protein kinase C-like\x2c phorbol ester/diacylglycerol-binding domain;Protein kinase C-like\x2c phorbol ester/diacylglycerol-binding domain . . 0.7914 0.9004 0.8329 0.7439 0.7255 0.8106 0.7877 0.7929 0.7431 0.8230 0.8940 0.8146 0.7914 0.7305 0.8116 0.7981 0.7816 hom 4620.41 149 3 185990096 . C T 4620.41 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6949;MQ=58.79;MQ0=0;QD=31.01;VQSLOD=9.3834;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4620,355,0 3 186006566 186006566 T C exonic DGKG synonymous SNV DGKG:NM_001080744:exon6:c.A477G:p.V159V,DGKG:NM_001080745:exon6:c.A477G:p.V159V,DGKG:NM_001346:exon6:c.A477G:p.V159V 0.7 0.69 0.7 0.71 0.7 0.68 0.7081 0.6935 0.7071 0.7188 0.7901 0.7025 0.7428 0.6999 0.69 0.69 0.69 0.69 0.66 rs710443 COSM4415519 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7040 0.6858 0.7055 0.5845 0.7094 0.7841 0.6999 0.7039 0.7034 0.7076 0.6872 0.6878 0.6192 0.7025 0.7922 0.7026 0.7169 hom 7488.11 243 3 186006566 . T C 7488.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0782;MQ=59.62;MQ0=0;MQRankSum=0.535;QD=30.82;ReadPosRankSum=0.706;VQSLOD=8.8682;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,242:243:99:7487,578,0 3 186006618 186006618 G C exonic DGKG nonsynonymous SNV DGKG:NM_001080744:exon6:c.C425G:p.T142S,DGKG:NM_001080745:exon6:c.C425G:p.T142S,DGKG:NM_001346:exon6:c.C425G:p.T142S 0.52 0.44 0.51 0.61 0.53 0.53 0.5270 0.4395 0.5100 0.6058 0.5505 0.5273 0.5447 0.5417 0.49 0.44 0.52 0.49 0.43 rs1004588 COSM4157489 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid) . . . . . . . . . . . 0.814 0.033 T 0.002 0.090 B 0.006 0.133 B 0.914 0.085 N 1 0.090 P 0.695 0.181 N 1.0 0.414 T 0.04 0.065 N 0.057 0.040 -0.922 0.453 T 0.000 0.000 T . . . -1.570 0.015 0.002 0.428 0.032 0.063 0.122 N c -1.255 -1.199 0.996 0.343 0.487 0.133 0 2.16 0.265 1.920 0.394 -0.752 0.034 0.802 0.295 0.000 0.016 5.379 0.154 Diacylglycerol kinase type I\x2c N-terminal . . 0.5261 0.4296 0.5043 0.5026 0.6157 0.5458 0.5321 0.5141 0.5211 0.5119 0.4362 0.5168 0.4371 0.6330 0.5527 0.5314 0.5615 het 2526.07 236 3 186006618 . G C 2526.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.851;DP=236;DS;Dels=0.00;FS=0.496;HRun=0;HaplotypeScore=13.2332;MQ=59.54;MQ0=0;MQRankSum=0.540;QD=10.70;ReadPosRankSum=1.446;VQSLOD=2.2118;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,106:236:99:2556,0,3307 3 186337713 186337713 T C exonic AHSG nonsynonymous SNV AHSG:NM_001622:exon6:c.T743C:p.M248T 0.74 0.79 0.6 0.74 0.68 0.82 0.6830 0.7497 0.5642 0.7248 0.6038 0.6671 0.7236 0.7966 0.69 0.75 0.65 0.66 0.73 rs4917 COSM4002545 2(haematopoietic_and_lymphoid_tissue) other Leanness\x2c_susceptibility_to RCV000017418.2 . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.620 0.108 N 1 0.090 P . . . 3.7 0.041 T 2.41 0.003 N 0.049 0.030 -1.000 0.300 T 0.000 0.000 T . . . -1.937 0.009 0.001 0.751 0.106 0.021 0.061 N c -1.256 -1.282 1.000 0.747 0.516 0.203 0 -0.913 0.099 -0.433 0.070 -0.407 0.061 0.001 0.137 0.428 0.259 3.826 0.083 Cystatin domain|Fetuin-A-type cystatin domain . . 0.6749 0.7497 0.5652 0.7643 0.7354 0.6031 0.6615 0.6852 0.7933 0.6826 0.7499 0.6112 0.7682 0.7475 0.6072 0.6558 0.6879 het 1077.98 94 3 186337713 . T C 1077.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.619;DP=94;Dels=0.00;FS=3.917;HRun=0;HaplotypeScore=0.9894;MQ=59.11;MQ0=0;MQRankSum=1.037;QD=11.47;ReadPosRankSum=-0.212;VQSLOD=6.4082;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,45:94:99:1108,0,1181 3 186338425 186338425 A C exonic AHSG synonymous SNV AHSG:NM_001622:exon7:c.A810C:p.T270T 0.81 0.88 0.66 0.84 0.76 0.87 0.7659 0.8488 0.6254 0.8259 0.6794 0.7547 0.7936 0.8590 0.78 0.85 0.74 0.74 0.8 rs1071592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7574 0.8512 0.6267 0.8359 0.8340 0.6848 0.7514 0.7700 0.8574 0.7740 0.8567 0.6746 0.8278 0.8401 0.6857 0.7443 0.7669 het 2778.47 217 3 186338425 . A C 2778.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.469;DP=217;DS;Dels=0.00;FS=11.599;HRun=3;HaplotypeScore=6.1902;MQ=59.39;MQ0=0;MQRankSum=0.294;QD=12.80;ReadPosRankSum=-0.089;VQSLOD=4.3134;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,102:217:99:2808,0,3054 3 186358366 186358366 A C exonic FETUB synonymous SNV FETUB:NM_001308077:exon1:c.A117C:p.S39S,FETUB:NM_001308079:exon1:c.A117C:p.S39S,FETUB:NM_014375:exon1:c.A117C:p.S39S 0.12 0.17 0.092 0.12 0.12 0.047 0.1146 0.1568 0.0444 0.1167 0.1194 0.1298 0.0960 0.0741 0.14 0.15 0.13 0.15 0.041 rs1047115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1108 0.1533 0.0533 0.1059 0.1105 0.1220 0.1305 0.1163 0.0739 0.1350 0.1434 0.0730 0.1126 0.1116 0.1312 0.1383 0.1222 het 3206.20 247 3 186358366 . A C 3206.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.947;DP=247;DS;Dels=0.00;FS=0.465;HRun=1;HaplotypeScore=9.0342;MQ=59.45;MQ0=0;MQRankSum=-0.228;QD=12.98;ReadPosRankSum=-1.125;VQSLOD=4.3226;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,121:247:99:3236,0,3636 3 186370333 186370333 G T exonic FETUB synonymous SNV FETUB:NM_001308079:exon5:c.G867T:p.V289V,FETUB:NM_001308077:exon6:c.G951T:p.V317V,FETUB:NM_014375:exon7:c.G1062T:p.V354V 0.66 0.8 0.59 0.75 0.46 0.62 0.5402 0.7459 0.6022 0.7325 0.4173 0.4628 0.5531 0.6275 0.55 0.73 0.46 0.66 0.46 rs1131364 COSM4157492 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5357 0.7532 0.5954 0.5216 0.7278 0.4135 0.4590 0.5124 0.6300 0.5474 0.7410 0.5764 0.5695 0.7503 0.4146 0.4450 0.4990 het 1599.02 102 3 186370333 . G T 1599.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.326;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5206;MQ=58.42;MQ0=0;MQRankSum=-0.896;QD=15.68;ReadPosRankSum=-0.135;VQSLOD=4.6344;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:38,64:102:99:1629,0,1001 3 186370350 186370350 A G exonic FETUB nonsynonymous SNV FETUB:NM_001308079:exon5:c.A884G:p.K295R,FETUB:NM_001308077:exon6:c.A968G:p.K323R,FETUB:NM_014375:exon7:c.A1079G:p.K360R 0.073 0.12 0.058 0.09 0.043 0.04 0.0509 0.1040 0.0249 0.0771 0.0266 0.0471 0.0433 0.0476 0.063 0.097 0.046 0.065 0.033 rs7999 . . . . . . . . . . . . . 0.358 0.161 T 0.004 0.112 B 0.007 0.121 B 0.079 0.023 N 1 0.090 P 1.01 0.254 L 0.81 0.485 T -0.71 0.208 N 0.011 0.003 -1.100 0.041 T 0.001 0.003 T . . . -1.661 0.013 0.002 0.332 0.020 0.021 0.062 N c -1.697 -1.756 0.989 0.317 0.554 0.283 0 -2.58 0.058 -0.273 0.085 -0.636 0.042 0.000 0.063 0.001 0.043 6.299 0.202 . . . 0.0483 0.1020 0.0270 0.0891 0.0719 0.0258 0.0446 0.0551 0.0473 0.0581 0.0933 0.0430 0.0993 0.0797 0.0306 0.0426 0.0431 het 1637.64 90 3 186370350 . A G 1637.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.459;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.58;MQ0=0;MQRankSum=-1.180;QD=18.20;ReadPosRankSum=-0.331;VQSLOD=6.0859;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,59:90:99:1668,0,804 3 186390627 186390627 C T exonic HRG nonsynonymous SNV HRG:NM_000412:exon5:c.C610T:p.P204S 0.49 0.63 0.4 0.57 0.33 0.46 0.3854 0.5989 0.3352 0.5415 0.2795 0.3350 0.3816 0.4505 0.43 0.59 0.34 0.5 0.3 rs9898 COSM1179693 16(soft_tissue);1(pancreas);1(prostate);1(thyroid);1(large_intestine) . . . . . Activated partial thromboplastin time . .26 20303064 rs9898 1E-11 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.421 N 1.000 0.182 P -2.515 0.001 N 2.64 0.128 T 3.03 0.001 N 0.101 0.153 -0.951 0.409 T 0.000 0.000 T . . . 0.086 0.102 3.461 0.133 0.003 0.009 0.035 N c -1.096 -0.844 0.050 0.148 0.497 0.185 0 4.35 0.513 2.140 0.415 0.154 0.240 0.993 0.376 0.219 0.221 7.213 0.250 Cystatin domain . . 0.3804 0.6049 0.3457 0.3918 0.5463 0.2761 0.3345 0.3722 0.4534 0.4079 0.5936 0.3612 0.4133 0.5643 0.2797 0.3199 0.3388 het 746.21 80 3 186390627 . C T 746.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.005;DP=80;Dels=0.00;FS=0.900;HRun=0;HaplotypeScore=0.6651;MQ=59.48;MQ0=0;MQRankSum=1.104;QD=9.33;ReadPosRankSum=1.658;VQSLOD=6.0792;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,34:80:99:776,0,1257 3 186395572 186395572 A T exonic HRG nonsynonymous SNV HRG:NM_000412:exon7:c.A1478T:p.N493I 0.65 0.71 0.59 0.81 0.48 0.62 0.5520 0.6862 0.6094 0.7974 0.4701 0.4833 0.5650 0.6081 0.55 0.68 0.48 0.63 0.55 rs1042464 COSM4157493 17(soft_tissue);1(pancreas);1(skin);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.325 N 1.000 0.090 P -2.16 0.001 N 3.46 0.053 T 3.4 0.001 N 0.033 0.013 -1.002 0.294 T 0.000 0.000 T . . . 0.670 0.158 8.629 0.166 0.005 0.013 0.044 N c -1.228 -0.948 0.002 0.093 0.497 0.185 0 4.57 0.557 1.922 0.394 -0.002 0.135 0.426 0.261 0.972 0.466 7.778 0.280 . . . 0.5504 0.6932 0.6019 0.5099 0.7949 0.4668 0.4813 0.5372 0.6129 0.5582 0.6838 0.6005 0.5331 0.8134 0.4713 0.4784 0.5214 het 1532.96 142 3 186395572 . A T 1532.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.521;DP=142;Dels=0.00;FS=0.634;HRun=1;HaplotypeScore=0.9159;MQ=58.30;MQ0=0;MQRankSum=0.193;QD=10.80;ReadPosRankSum=0.357;VQSLOD=5.5512;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,63:142:99:1563,0,2060 3 186440243 186440243 G A exonic KNG1 synonymous SNV KNG1:NM_000893:exon3:c.G324A:p.T108T,KNG1:NM_001102416:exon3:c.G324A:p.T108T,KNG1:NM_001166451:exon3:c.G324A:p.T108T 0.24 0.16 0.39 0.21 0.34 0.2 0.3023 0.1648 0.4297 0.2358 0.3046 0.3313 0.3430 0.2141 0.28 0.17 0.33 0.26 0.4 rs1469859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3083 0.1582 0.4192 0.3517 0.2269 0.3074 0.3288 0.3399 0.2147 0.2716 0.1650 0.4175 0.3344 0.2318 0.3136 0.3160 0.3143 het 648.35 65 3 186440243 . G A 648.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.259;DP=65;Dels=0.00;FS=2.113;HRun=0;HaplotypeScore=8.2088;MQ=58.48;MQ0=0;MQRankSum=0.947;QD=9.97;ReadPosRankSum=-1.782;VQSLOD=3.9827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,28:65:99:678,0,960 3 186443018 186443018 T C exonic KNG1 nonsynonymous SNV KNG1:NM_000893:exon4:c.T533C:p.M178T,KNG1:NM_001102416:exon4:c.T533C:p.M178T,KNG1:NM_001166451:exon4:c.T533C:p.M178T 0.52 0.61 0.61 0.36 0.54 0.5 0.5373 0.5956 0.6705 0.3847 0.5228 0.5307 0.5430 0.5190 0.55 0.6 0.52 0.51 0.59 rs1656922 COSM149539;COSM149540 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.71 0.040 T 0.0 0.026 B 0.0 0.013 B 0.447 0.048 N 1 0.090 P -0.665 0.020 N 1.77 0.258 T 1.34 0.009 N 0.014 0.002 -0.934 0.436 T 0.000 0.000 T . . . -2.237 0.005 0.001 0.466 0.037 0.004 0.020 N c -1.711 -1.664 0.000 0.050 0.500 0.196 0 -0.388 0.118 -0.044 0.119 -1.100 0.018 0.000 0.063 0.055 0.167 0.989 0.013 Cystatin domain|Kininogen-type cystatin domain . . 0.5371 0.5938 0.6545 0.5294 0.3743 0.5224 0.5280 0.5447 0.5167 0.5334 0.5849 0.6360 0.5066 0.3972 0.5281 0.5146 0.5276 het 1442.22 119 3 186443018 . T C 1442.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.527;DP=119;Dels=0.00;FS=1.471;HRun=0;HaplotypeScore=2.9539;MQ=59.32;MQ0=0;MQRankSum=-0.194;QD=12.12;ReadPosRankSum=-0.816;VQSLOD=6.5117;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1472,0,1436 3 186459927 186459927 T C exonic KNG1 nonsynonymous SNV KNG1:NM_001102416:exon10:c.T1742C:p.I581T 0.42 0.52 0.47 0.3 0.42 0.36 0.4154 0.5155 0.4697 0.3153 0.3683 0.4186 0.4244 0.3761 0.44 0.5 0.41 0.43 0.49 rs710446 COSM149541 3(haematopoietic_and_lymphoid_tissue);1(stomach);1(skin);1(lung) . . . . . Activated partial thromboplastin time . .36 20303064 rs710446 1E-21 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.329 N 1.000 0.588 P -2.24 0.001 N 2.75 0.116 T 1.68 0.006 N 0.045 0.025 -0.982 0.345 T 0.000 0.000 T . . . -0.038 0.090 2.234 0.540 0.049 0.004 0.020 N c -0.794 -0.551 1.000 0.747 0.447 0.083 0 5.61 0.853 2.629 0.459 -0.326 0.075 0.266 0.248 0.002 0.062 11.057 0.470 . . . 0.4158 0.5180 0.4688 0.5145 0.3062 0.3726 0.4129 0.4319 0.3764 0.4289 0.5209 0.4916 0.5 0.3061 0.3799 0.3970 0.4043 het 2793.83 222 3 186459927 . T C 2793.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.654;DP=222;Dels=0.00;FS=2.311;HRun=0;HaplotypeScore=6.5324;MQ=58.95;MQ0=0;MQRankSum=0.326;QD=12.58;ReadPosRankSum=-0.721;VQSLOD=5.0434;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,104:222:99:2824,0,2955 3 186570892 186570892 T G exonic ADIPOQ synonymous SNV ADIPOQ:NM_004797:exon2:c.T45G:p.G15G,ADIPOQ:NM_001177800:exon3:c.T45G:p.G15G 0.15 0.036 0.19 0.3 0.13 0.15 0.1289 0.0456 0.1839 0.3069 0.0478 0.1173 0.1280 0.1293 0.092 0.048 0.12 0.054 0.066 rs2241766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1339 0.0431 0.1863 0.1999 0.3011 0.0513 0.1154 0.1389 0.1332 0.0904 0.0480 0.1778 0.16 0.2897 0.0509 0.0961 0.0963 het 1321.18 107 3 186570892 . T G 1321.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.835;DP=107;Dels=0.00;FS=2.530;HRun=2;HaplotypeScore=2.7122;MQ=59.30;MQ0=0;MQRankSum=2.439;QD=12.35;ReadPosRankSum=-0.644;VQSLOD=5.3806;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,52:107:99:1351,0,1350 3 186917751 186917751 C G exonic RTP1 nonsynonymous SNV RTP1:NM_153708:exon2:c.C685G:p.Q229E 0.43 0.4 0.47 0.28 0.54 0.47 0.4759 0.3994 0.4001 0.2824 0.4959 0.5220 0.4584 0.4913 0.48 0.4 0.52 0.38 0.39 rs6764714 COSM3759920 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.351 N 1 0.090 P 0.55 0.145 N 1.62 0.282 T -0.48 0.154 N 0.056 0.039 -0.976 0.358 T 0.000 0.000 T . . . 0.084 0.102 3.442 0.622 0.067 0.018 0.056 N c -0.780 -0.618 0.910 0.263 0.615 0.372 0 5.74 0.900 1.719 0.374 0.133 0.217 0.528 0.269 0.580 0.285 12.993 0.579 . ENSG00000198491.3|ENSG00000175077.5 Artery_Aorta|Nerve_Tibial 0.4680 0.3982 0.4004 0.5391 0.2837 0.4768 0.5192 0.4738 0.4726 0.4715 0.3873 0.4582 0.5067 0.2969 0.5040 0.5291 0.5143 hom 4300.61 144 3 186917751 . C G 4300.61 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6336;MQ=58.98;MQ0=0;QD=29.87;VQSLOD=8.4874;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4300,361,0 3 186953808 186953808 C T exonic MASP1 synonymous SNV MASP1:NM_139125:exon11:c.G1851A:p.L617L 0.21 0.026 0.35 0.2 0.35 0.24 0.2908 0.0597 0.3001 0.2076 0.3435 0.3389 0.3086 0.2571 0.25 0.068 0.34 0.15 0.34 rs850312 COSM149542 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2979 0.0559 0.2995 0.3052 0.2092 0.3517 0.3432 0.3178 0.2574 0.2597 0.0625 0.3282 0.26 0.2274 0.3515 0.3482 0.3320 het 2333.13 209 3 186953808 . C T 2333.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.366;DP=209;Dels=0.00;FS=3.938;HRun=0;HaplotypeScore=4.8766;MQ=59.29;MQ0=0;MQRankSum=-0.649;QD=11.16;ReadPosRankSum=-1.423;VQSLOD=4.7045;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,93:209:99:2363,0,3331 3 186954285 186954285 A G exonic MASP1 synonymous SNV MASP1:NM_139125:exon11:c.T1374C:p.P458P 0.95 0.82 0.99 1. 1. 1. 0.9869 0.8609 0.9940 0.9997 1 0.9992 0.9901 0.9998 0.95 0.87 1. 0.98 0.89 rs710452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9899 0.8592 0.9938 0.9989 0.9999 0.9999 0.9993 0.9934 0.9998 0.9609 0.8638 0.9928 1 0.9994 0.9997 0.9997 0.9919 hom 7431.37 248 3 186954285 . A G 7431.37 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.690;DP=248;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6701;MQ=59.10;MQ0=0;MQRankSum=1.718;QD=29.97;ReadPosRankSum=0.484;VQSLOD=8.4891;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,247:248:99:7430,617,0 3 187088612 187088612 C T exonic RTP4 synonymous SNV RTP4:NM_022147:exon2:c.C192T:p.S64S 0.079 0.011 0.11 0.016 0.17 0.12 0.1259 0.0299 0.0765 0.0115 0.1305 0.1613 0.1393 0.1347 0.12 0.034 0.17 0.065 0.11 rs33927333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1247 0.0262 0.0813 0.1420 0.0111 0.1346 0.1629 0.1420 0.1309 0.1100 0.0267 0.0871 0.1192 0.0148 0.1398 0.1614 0.1344 het 1356.66 102 3 187088612 . C T 1356.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.485;DP=102;Dels=0.00;FS=2.715;HRun=0;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;MQRankSum=1.159;QD=13.30;ReadPosRankSum=-1.424;VQSLOD=4.9318;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,53:102:99:1387,0,1198 3 187088812 187088812 C T exonic RTP4 nonsynonymous SNV RTP4:NM_022147:exon2:c.C392T:p.T131M 0.38 0.14 0.49 0.74 0.35 0.31 0.3825 0.1894 0.5776 0.6930 0.4055 0.3483 0.3947 0.3341 0.3 0.21 0.35 0.23 0.36 rs3821812 COSM3759922 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.297 0.146 T 0.23 0.289 B 0.031 0.206 B 0.000 0.005 N 1 0.090 P -0.69 0.019 N 1.94 0.227 T 1.36 0.009 N 0.053 0.035 -0.984 0.342 T 0.000 0.000 T . . . -1.224 0.024 0.006 0.393 0.027 0.002 0.012 N c -2.012 -2.104 1.000 0.747 0.563 0.310 0 -7.38 0.013 -1.352 0.027 -3.125 0.001 0.000 0.063 0.000 0.016 3.293 0.065 Zinc-binding domain ENSG00000136514.2|ENSG00000136514.2|ENSG00000136514.2 Adipose_Subcutaneous|Lung|Nerve_Tibial 0.3963 0.1871 0.5614 0.2805 0.7027 0.4164 0.3522 0.3673 0.3366 0.3430 0.1979 0.4880 0.2517 0.7137 0.4085 0.3644 0.3666 het 685.73 66 3 187088812 . C T 685.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DP=66;Dels=0.00;FS=3.466;HRun=0;HaplotypeScore=3.8772;MQ=59.34;MQ0=0;MQRankSum=-0.348;QD=10.39;ReadPosRankSum=2.185;VQSLOD=4.9581;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,26:66:99:716,0,1057 3 187088903 187088903 C A exonic RTP4 synonymous SNV RTP4:NM_022147:exon2:c.C483A:p.I161I 0.38 0.14 0.49 0.74 0.35 0.31 0.3822 0.1894 0.5764 0.6930 0.4053 0.3479 0.3916 0.3338 0.3 0.21 0.35 0.23 0.36 rs1533595 COSM3759923 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3962 0.1870 0.5609 0.2804 0.7026 0.4160 0.3522 0.3672 0.3366 0.3425 0.1980 0.4880 0.2517 0.7120 0.4088 0.3635 0.3666 het 752.36 81 3 187088903 . C A 752.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.308;DP=81;Dels=0.00;FS=12.059;HRun=0;HaplotypeScore=4.8544;MQ=60.00;MQ0=0;MQRankSum=-0.171;QD=9.29;ReadPosRankSum=-1.716;VQSLOD=2.5362;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,30:81:99:782,0,1482 3 187088926 187088926 G A exonic RTP4 nonsynonymous SNV RTP4:NM_022147:exon2:c.G506A:p.C169Y 0.8 0.61 0.87 0.96 0.82 0.84 0.8339 0.6686 0.9050 0.9572 0.8642 0.8285 0.8315 0.8336 0.78 0.68 0.82 0.76 0.88 rs1533594 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P 0.145 0.088 N 2.3 0.170 T 0.28 0.042 N 0.015 0.002 -0.956 0.400 T 0.000 0.000 T . . . -3.305 0.001 0.001 0.169 0.005 0.003 0.015 N c -2.236 -2.307 1.000 0.747 0.707 0.730 0 -8.16 0.009 -2.128 0.014 -0.593 0.044 0.000 0.063 0.000 0.016 0.759 0.009 . ENSG00000136514.2|ENSG00000136514.2 Nerve_Tibial|Stomach 0.8402 0.6639 0.8985 0.8412 0.9562 0.8611 0.8267 0.8344 0.8339 0.7960 0.6762 0.8711 0.8709 0.9486 0.8554 0.8265 0.8442 het 980.30 97 3 187088926 . G A 980.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.350;DP=97;Dels=0.00;FS=8.600;HRun=0;HaplotypeScore=0.5784;MQ=59.76;MQ0=0;MQRankSum=0.190;QD=10.11;ReadPosRankSum=-1.148;VQSLOD=4.4089;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,40:97:99:1010,0,1701 3 187089031 187089031 C A exonic RTP4 nonsynonymous SNV RTP4:NM_022147:exon2:c.C611A:p.A204D 0.29 0.035 0.45 0.45 0.34 0.29 0.3430 0.0893 0.5315 0.4229 0.3762 0.3421 0.3653 0.3170 0.26 0.1 0.35 0.13 0.35 rs1003995 COSM3759924 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.135 0.262 T 0.718 0.403 P 0.22 0.361 B . . . 1 0.090 P 0.975 0.246 L 2.12 0.197 T -0.55 0.168 N 0.072 0.061 -0.924 0.450 T 0.000 0.000 T . . . 3.453 0.473 23.0 0.982 0.382 0.041 0.094 N c -0.808 -0.943 0.990 0.319 0.707 0.730 0 0.673 0.170 0.088 0.147 0.025 0.148 0.000 0.063 0.000 0.016 3.525 0.073 . ENSG00000136514.2|ENSG00000136514.2|ENSG00000136514.2 Adipose_Subcutaneous|Lung|Nerve_Tibial 0.3559 0.0849 0.5176 0.2514 0.4259 0.3847 0.3482 0.3377 0.3192 0.2897 0.0932 0.4484 0.2219 0.4491 0.3769 0.3564 0.3306 het 1531.60 133 3 187089031 . C A 1531.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.435;DP=133;Dels=0.00;FS=2.236;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=1.082;QD=11.52;ReadPosRankSum=-1.232;VQSLOD=6.3956;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,62:133:99:1562,0,1955 3 187446211 187446211 C T exonic BCL6 nonsynonymous SNV BCL6:NM_001134738:exon5:c.G1477A:p.A493T,BCL6:NM_001130845:exon6:c.G1477A:p.A493T,BCL6:NM_001706:exon6:c.G1477A:p.A493T 0.19 0.41 0.13 0.078 0.14 0.08 0.1759 0.4386 0.1333 0.0867 0.1430 0.1674 0.1618 0.1126 0.24 0.4 0.15 0.21 0.12 rs2229362 COSM3759926 6(soft_tissue);1(large_intestine) not provided not_specified RCV000120204.1 MedGen CN169374 . . . . . . 0.423 0.097 T 0.0 0.112 B 0.0 0.040 B 0.013 0.290 N 1 0.090 P 0 0.065 N 3.13 0.084 T -0.01 0.072 N 0.063 0.054 -0.924 0.450 T 0.000 0.000 T . . . 0.367 0.129 6.324 0.908 0.195 0.219 0.214 N c -0.990 -0.942 1.000 0.517 0.707 0.730 0 -0.824 0.102 0.463 0.215 0.935 0.490 0.181 0.239 0.494 0.270 2.425 0.042 . . . 0.1418 0.4138 0.1050 0.1437 0.0717 0.1030 0.1472 0.1372 0.0981 0.2074 0.4119 0.1223 0.1291 0.0624 0.0996 0.1406 0.1344 het 111.91 19 3 187446211 . C T 111.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.132;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.044;QD=5.89;ReadPosRankSum=-0.307;VQSLOD=5.7917;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:142,0,355 3 187447032 187447032 G A exonic BCL6 synonymous SNV BCL6:NM_001134738:exon4:c.C1161T:p.N387N,BCL6:NM_001130845:exon5:c.C1161T:p.N387N,BCL6:NM_001706:exon5:c.C1161T:p.N387N 0.57 0.11 0.75 0.8 0.67 0.7 0.6435 0.1762 0.7858 0.8060 0.6882 0.6629 0.6938 0.6541 0.5 0.19 0.65 0.52 0.61 rs1056932 COSM5019038 1(breast);18(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6582 0.1674 0.7746 0.7003 0.7959 0.6948 0.6587 0.6811 0.6520 0.5310 0.1832 0.7482 0.7086 0.7937 0.6955 0.6432 0.6496 het 3102.16 250 3 187447032 . G A 3102.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.617;DP=250;DS;Dels=0.00;FS=0.991;HRun=0;HaplotypeScore=10.4219;MQ=58.95;MQ0=0;MQRankSum=0.896;QD=12.41;ReadPosRankSum=0.804;VQSLOD=4.3034;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3132,0,3633 3 188327461 188327461 C T exonic LPP synonymous SNV LPP:NM_001167671:exon6:c.C942T:p.D314D,LPP:NM_005578:exon6:c.C942T:p.D314D 0.59 0.73 0.56 0.44 0.57 0.58 0.5843 0.6958 0.5530 0.4513 0.5886 0.5897 0.5839 0.5821 0.63 0.7 0.59 0.61 0.63 rs1059380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5774 0.7018 0.5378 0.4448 0.4570 0.5976 0.5961 0.5694 0.5874 0.6106 0.7017 0.5432 0.4267 0.4701 0.5994 0.5837 0.5963 hom 3056.47 100 3 188327461 . C T 3056.47 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.40;MQ0=0;QD=30.56;VQSLOD=8.7277;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3089,259,0 3 188590446 188590446 A G exonic LPP synonymous SNV LPP:NM_001167672:exon9:c.A1164G:p.R388R,LPP:NM_001167671:exon10:c.A1605G:p.R535R,LPP:NM_005578:exon10:c.A1605G:p.R535R 0.4 0.26 0.39 0.43 0.53 0.43 0.4733 0.2767 0.4136 0.4560 0.5733 0.5136 0.5121 0.4429 0.43 0.28 0.51 0.4 0.48 rs1136644 COSM4157499 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4752 0.2713 0.4137 0.4332 0.4513 0.5744 0.5176 0.4909 0.4423 0.4505 0.2744 0.4147 0.3960 0.4343 0.5832 0.5234 0.5010 hom 5308.20 176 3 188590446 . A G 5308.20 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7739;MQ=58.46;MQ0=0;QD=30.16;VQSLOD=7.4184;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5308,406,0 3 189713205 189713205 T C exonic P3H2 synonymous SNV P3H2:NM_018192:exon2:c.A507G:p.E169E 0.32 0.2 0.31 0.49 0.3 0.34 0.3353 0.2138 0.3261 0.4923 0.4208 0.3270 0.3201 0.3362 0.28 0.21 0.31 0.21 0.27 rs9821880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3358 0.2119 0.3234 0.2357 0.4937 0.4255 0.3223 0.3240 0.3406 0.3211 0.2092 0.3217 0.2649 0.4895 0.4307 0.3402 0.3763 hom 2267.20 72 3 189713205 . T C 2267.20 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9243;MQ=57.71;MQ0=0;QD=31.49;VQSLOD=7.6628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2300,178,0 3 190030680 190030680 A G exonic CLDN1 synonymous SNV CLDN1:NM_021101:exon2:c.T369C:p.G123G 0.81 0.75 0.8 0.82 0.86 0.84 0.8334 0.7692 0.7870 0.8234 0.8728 0.8505 0.8557 0.8250 0.82 0.77 0.85 0.81 0.84 rs9869263 . . Benign not_specified RCV000175932.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8323 0.7674 0.7825 0.8629 0.8236 0.8690 0.8488 0.8481 0.8246 0.8311 0.7744 0.7912 0.8079 0.8228 0.8782 0.8566 0.8306 het 2327.26 250 3 190030680 . A G 2327.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.564;DP=250;DS;Dels=0.00;FS=1.239;HRun=0;HaplotypeScore=2.9088;MQ=59.12;MQ0=0;MQRankSum=1.379;QD=9.31;ReadPosRankSum=-1.189;VQSLOD=6.0867;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:150,98:250:99:2357,0,4300 3 191179193 191179193 A G exonic PYDC2 nonsynonymous SNV PYDC2:NM_001083308:exon1:c.A242G:p.Q81R 0.63 0.75 0.63 0.42 0.73 0.58 0.6885 0.7573 0.6019 0.4094 0.7483 0.7445 0.6711 0.6048 0.75 0.78 0.74 0.69 0.76 rs293833 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 0.83 0.478 T 2.97 0.001 N 0.015 0.002 -0.958 0.396 T 0.000 0.000 T . . . -2.106 0.007 0.001 0.095 0.001 0.010 0.039 N c -1.275 -1.395 0.000 0.044 0.487 0.133 0 -0.631 0.109 -0.016 0.124 0.411 0.276 0.034 0.205 0.003 0.074 . . DAPIN domain|Death-like domain . . 0.6856 0.7564 0.6036 0.8060 0.4123 0.7393 0.7424 0.7119 0.6059 0.7270 0.7602 0.6396 0.7748 0.4106 0.7438 0.7412 0.7336 hom 7359.17 249 3 191179193 . A G 7359.17 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4189;MQ=59.30;MQ0=0;QD=29.44;VQSLOD=8.3426;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7358,593,0 3 192994543 192994543 A G exonic ATP13A5 nonsynonymous SNV ATP13A5:NM_198505:exon29:c.T3392C:p.V1131A 0.33 0.11 0.44 0.36 0.49 0.37 0.4362 0.1628 0.5358 0.3557 0.5011 0.4747 0.4689 0.3929 0.37 0.17 0.47 0.3 0.4 rs2271791 . . . . . . . . . . . . . 0.145 0.251 T 0.003 0.102 B 0.008 0.127 B 0.001 0.394 N 0.028 0.389 P 2.02 0.555 M 0.67 0.522 T -2.4 0.527 N 0.422 0.479 -0.932 0.439 T 0.000 0.000 T . . . 3.023 0.423 22.3 0.993 0.585 0.944 0.610 D c -0.153 0.056 0.033 0.141 0.487 0.133 0 5.43 0.789 3.150 0.501 1.199 0.960 1.000 0.715 1.000 0.888 13.743 0.622 . ENSG00000127252.4|ENSG00000127252.4|ENSG00000236508.1|ENSG00000127252.4|ENSG00000127252.4 Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.4406 0.1489 0.5137 0.4013 0.3548 0.4959 0.4780 0.4397 0.3906 0.3802 0.1528 0.4916 0.4007 0.3540 0.4948 0.4781 0.4449 het 556.69 56 3 192994543 . A G 556.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.847;DP=56;Dels=0.00;FS=1.075;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=1.044;QD=9.94;ReadPosRankSum=-0.110;VQSLOD=6.4692;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,25:56:99:587,0,750 3 193031926 193031926 C T exonic ATP13A5 nonsynonymous SNV ATP13A5:NM_198505:exon19:c.G2215A:p.G739S 0.53 0.32 0.54 0.65 0.64 0.57 0.5967 0.3539 0.6120 0.6451 0.5711 0.6347 0.5837 0.5706 0.54 0.37 0.63 0.49 0.59 rs2280268 COSM1179815 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.633 0.051 T 0.053 0.211 B 0.07 0.264 B 0.018 0.276 N 1 0.090 P 0.585 0.154 N 0.44 0.566 T 0.08 0.060 N 0.04 0.020 -0.918 0.459 T 0.000 0.000 T . . . 2.053 0.308 16.55 0.868 0.163 0.101 0.155 N c -0.818 -0.711 0.018 0.130 0.526 0.212 0 3.11 0.347 0.248 0.178 0.071 0.179 0.000 0.063 0.329 0.242 5.398 0.155 HAD-like domain . . 0.5958 0.3508 0.6018 0.5448 0.6446 0.5610 0.6398 0.5914 0.5667 0.5375 0.3529 0.5911 0.5733 0.6438 0.5624 0.6224 0.5562 het 1891.36 179 3 193031926 . C T 1891.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.329;DP=179;Dels=0.00;FS=1.911;HRun=1;HaplotypeScore=6.4862;MQ=59.48;MQ0=0;MQRankSum=-1.022;QD=10.57;ReadPosRankSum=0.765;VQSLOD=4.3241;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,75:179:99:1921,0,2973 3 193036794 193036794 G C exonic ATP13A5 synonymous SNV ATP13A5:NM_198505:exon17:c.C2019G:p.V673V 0.9 0.93 0.84 0.98 0.82 0.88 0.8495 0.9148 0.8760 0.9865 0.7879 0.8190 0.8223 0.8676 0.85 0.91 0.82 0.91 0.8 rs6788770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8474 0.9176 0.8771 0.8015 0.9865 0.7848 0.8200 0.8355 0.8632 0.8424 0.9126 0.8508 0.8433 0.9802 0.7856 0.8028 0.7900 het 2712.86 212 3 193036794 . G C 2712.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.996;DP=212;Dels=0.00;FS=1.123;HRun=1;HaplotypeScore=10.6886;MQ=58.86;MQ0=0;MQRankSum=0.012;QD=12.80;ReadPosRankSum=-1.009;VQSLOD=3.3004;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,106:212:99:2743,0,2648 3 193080414 193080414 C G exonic ATP13A5 nonsynonymous SNV ATP13A5:NM_198505:exon4:c.G397C:p.E133Q 0.51 0.65 0.53 0.39 0.53 0.44 0.5117 0.6232 0.5080 0.4000 0.6015 0.5128 0.5730 0.4588 0.55 0.62 0.52 0.59 0.52 rs6797429 COSM5941199 1(skin) . . . . . . . . . . . 0.691 0.043 T 0.0 0.026 B 0.001 0.040 B 0.006 0.324 N 1 0.090 P -2.045 0.002 N 1.75 0.262 T 0.81 0.018 N 0.039 0.034 -0.995 0.314 T 0.000 0.000 T . . . 0.149 0.108 4.139 0.132 0.003 0.031 0.080 N c -0.781 -0.536 0.001 0.086 0.487 0.133 0 5.6 0.849 2.746 0.469 -0.240 0.092 1.000 0.715 0.029 0.146 13.352 0.599 . . . 0.5142 0.6252 0.5119 0.5437 0.3967 0.6084 0.5106 0.5209 0.4612 0.5544 0.6264 0.5276 0.5927 0.3738 0.5931 0.5242 0.5470 hom 6719.01 224 3 193080414 . C G 6719.01 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4775;MQ=59.42;MQ0=0;QD=30.00;VQSLOD=8.0066;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:6718,503,0 3 193171979 193171979 T A exonic ATP13A4 nonsynonymous SNV ATP13A4:NM_032279:exon17:c.A1938T:p.E646D 0.057 0.017 0.075 0.038 0.096 0.08 0.0855 0.0269 0.0452 0.0412 0.1024 0.1081 0.0969 0.0752 0.081 0.033 0.11 0.043 0.082 rs35424709 COSM5001976 1(pancreas) . . . . . . . . . . . 0.075 0.344 T 0.975 0.561 D 0.928 0.645 D 0.000 0.559 D 0.582 0.311 P 2.13 0.595 M -0.5 0.705 T -1.77 0.418 N 0.469 0.560 -0.752 0.579 T 0.017 0.070 T . . . 4.936 0.663 25.0 0.998 0.914 0.778 0.380 D c -0.011 -0.035 0.000 0.035 0.554 0.283 0 2.49 0.291 0.015 0.131 0.146 0.234 0.961 0.334 0.993 0.574 9.273 0.367 HAD-like domain|P-type ATPase\x2c cytoplasmic domain N . . 0.0858 0.0238 0.0474 0.0760 0.0431 0.1060 0.1112 0.0987 0.0763 0.0803 0.0255 0.0598 0.0695 0.0475 0.0979 0.1103 0.1204 het 1037.44 96 3 193171979 . T A 1037.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.092;DP=96;Dels=0.00;FS=1.712;HRun=0;HaplotypeScore=1.6208;MQ=58.88;MQ0=0;MQRankSum=-0.697;QD=10.81;ReadPosRankSum=-0.734;VQSLOD=5.5130;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,45:96:99:1067,0,1293 3 193334991 193334991 G A exonic OPA1 nonsynonymous SNV OPA1:NM_015560:exon4:c.G473A:p.S158N,OPA1:NM_130834:exon4:c.G473A:p.S158N,OPA1:NM_130836:exon4:c.G473A:p.S158N,OPA1:NM_130837:exon4:c.G473A:p.S158N 0.47 0.58 0.47 0.37 0.46 0.42 0.4683 0.5756 0.4157 0.3910 0.5577 0.4702 0.4703 0.4351 0.5 0.56 0.46 0.54 0.49 rs7624750 COSM446194 3(prostate) Benign|Benign not_specified|Optic_Atrophy\x2c_Dominant RCV000081768.7|RCV000339112.1 MedGen|MedGen CN169374|CN239213 . . . . . . 0.618 0.078 T 0.0 0.067 B 0.001 0.040 B 0.014 0.286 N 1.000 0.588 P 1.15 0.294 L -3.1 0.929 D -0.37 0.132 N 0.008 0.069 -0.930 0.442 T 0.000 0.000 T . . . 2.189 0.324 17.44 0.754 0.107 0.076 0.135 N c -0.133 -0.031 0.483 0.208 0.732 0.924 0 3.64 0.407 4.156 0.577 -0.109 0.115 1.000 0.715 0.951 0.427 6.409 0.207 . ENSG00000236297.1|ENSG00000127249.10|ENSG00000198836.4|ENSG00000236297.1|ENSG00000127249.10|ENSG00000127249.10|ENSG00000236297.1|ENSG00000127249.10|ENSG00000127249.10|ENSG00000236297.1|ENSG00000127249.10|ENSG00000127249.10|ENSG00000198836.4|ENSG00000127249.10 Brain_Caudate_basal_ganglia|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Testis|Testis|Whole_Blood 0.4683 0.5688 0.4206 0.4685 0.3964 0.5786 0.4675 0.4596 0.4354 0.5118 0.5613 0.4499 0.4536 0.4340 0.5686 0.4843 0.4908 het 420.60 59 3 193334991 . G A 420.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.004;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;MQRankSum=-0.914;QD=7.13;ReadPosRankSum=-1.704;VQSLOD=4.7555;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,18:59:99:451,0,1018 3 193374964 193374964 T C exonic OPA1 synonymous SNV OPA1:NM_130831:exon20:c.T2001C:p.A667A,OPA1:NM_015560:exon21:c.T2109C:p.A703A,OPA1:NM_130832:exon21:c.T2055C:p.A685A,OPA1:NM_130833:exon21:c.T2112C:p.A704A,OPA1:NM_130834:exon22:c.T2163C:p.A721A,OPA1:NM_130835:exon22:c.T2166C:p.A722A,OPA1:NM_130836:exon22:c.T2220C:p.A740A,OPA1:NM_130837:exon23:c.T2274C:p.A758A 0.47 0.59 0.47 0.36 0.46 0.43 0.4668 0.5734 0.4156 0.3773 0.5531 0.4700 0.4670 0.4349 0.5 0.56 0.46 0.54 0.52 rs9851685 COSM4417049 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Optic_Atrophy\x2c_Dominant RCV000081757.7|RCV000284298.1 MedGen|MedGen CN169374|CN239213 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4675 0.5679 0.4212 0.4762 0.3843 0.5755 0.4673 0.4587 0.4360 0.5098 0.5584 0.4498 0.4603 0.4220 0.5659 0.4836 0.4877 het 1428.53 115 3 193374964 . T C 1428.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.340;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5929;MQ=58.98;MQ0=0;MQRankSum=-0.843;QD=12.42;ReadPosRankSum=-0.553;VQSLOD=6.2300;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,60:115:99:1459,0,1491 3 194061826 194061826 C T exonic CPN2 nonsynonymous SNV CPN2:NM_001080513:exon2:c.G1606A:p.V536M,CPN2:NM_001291988:exon2:c.G1606A:p.V536M 0.28 0.17 0.24 0.32 0.31 0.4 0.2944 0.1876 0.2082 0.3431 0.3598 0.2836 0.3060 0.4151 0.25 0.19 0.28 0.28 0.26 rs11711157 COSM4157509 1(breast);1(liver);1(thyroid);1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.004 0.654 D 0.918 0.488 P 0.063 0.256 B 0.083 0.208 N 0.775 0.294 P 1.59 0.404 L 0.38 0.576 T -0.71 0.202 N 0.084 0.146 -0.961 0.390 T 0.000 0.000 T . . . 1.830 0.281 15.16 0.998 0.858 0.648 0.323 D c -0.407 -0.411 1.000 0.407 0.497 0.185 0 2.79 0.317 0.528 0.225 0.065 0.171 0.176 0.238 0.012 0.117 10.235 0.423 . ENSG00000172061.7 Artery_Tibial 0.2892 0.1762 0.2032 0.3335 0.3391 0.3548 0.2760 0.2836 0.3988 0.2626 0.1776 0.2076 0.3013 0.3243 0.3629 0.2819 0.2994 het 539.83 42 3 194061826 . C T 539.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=42;Dels=0.00;FS=2.928;HRun=0;HaplotypeScore=0.9159;MQ=58.44;MQ0=0;MQRankSum=1.096;QD=12.85;ReadPosRankSum=-0.013;VQSLOD=5.9221;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,22:42:99:570,0,490 3 194061906 194061906 T C exonic CPN2 nonsynonymous SNV CPN2:NM_001080513:exon2:c.A1526G:p.Q509R,CPN2:NM_001291988:exon2:c.A1526G:p.Q509R 0.81 0.87 0.84 0.81 0.82 0.71 0.8171 0.8610 0.8294 0.8323 0.8603 0.8243 0.7973 0.7284 0.83 0.85 0.82 0.5 0.74 rs4974538 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.975 0.002 N 0.84 0.475 T 0.34 0.038 N 0.016 0.089 -0.959 0.393 T 0.000 0.000 T . . . -2.300 0.005 0.001 0.479 0.039 0.014 0.047 N c -1.503 -1.392 0.999 0.387 0.497 0.185 0 2.61 0.301 0.755 0.259 -0.441 0.057 0.052 0.213 0.003 0.074 2.146 0.035 . . . 0.8179 0.8616 0.8296 0.8000 0.8344 0.8618 0.8240 0.8086 0.7278 0.8345 0.8545 0.8210 0.8013 0.8284 0.8615 0.8191 0.8272 hom 1918.54 58 3 194061906 . T C 1918.54 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;QD=33.08;VQSLOD=8.7757;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1952,153,0 3 194061907 194061907 G A exonic CPN2 stopgain CPN2:NM_001080513:exon2:c.C1525T:p.Q509X,CPN2:NM_001291988:exon2:c.C1525T:p.Q509X 0.28 0.23 0.24 0.38 0.35 0.2 0.3331 0.2672 0.1901 0.3856 0.3400 0.3974 0.3183 0.1878 0.34 0.27 0.38 . 0.36 rs4974539 COSM4157510 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 5.126 0.691 25.4 0.899 0.187 0.094 0.150 N c -0.432 -0.822 1.000 0.448 0.497 0.185 0 -4.38 0.034 -0.043 0.119 -1.201 0.016 0.002 0.151 0.004 0.083 13.673 0.618 . . . 0.3259 0.2682 0.2049 0.3510 0.3899 0.3309 0.3948 0.3339 0.1895 0.3424 0.2644 0.2333 0.3709 0.3881 0.3315 0.3894 0.3643 het 672.81 58 3 194061907 . G A 672.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.614;DP=58;Dels=0.00;FS=3.858;HRun=1;HaplotypeScore=1.9957;MQ=60.00;MQ0=0;MQRankSum=-1.802;QD=11.60;ReadPosRankSum=-0.493;VQSLOD=4.4995;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,24:58:99:703,0,855 3 194062519 194062519 C T exonic CPN2 nonsynonymous SNV CPN2:NM_001080513:exon2:c.G913A:p.A305T,CPN2:NM_001291988:exon2:c.G913A:p.A305T 0.37 0.46 0.28 0.32 0.31 0.41 0.3145 0.4268 0.2215 0.3444 0.3564 0.2823 0.3167 0.4065 0.33 0.41 0.28 0.39 0.25 rs3732477 . . . . . . . . . . . . . 0.301 0.144 T 0.017 0.163 B 0.009 0.133 B 0.339 0.042 N 1 0.090 P 0.375 0.121 N 0.34 0.582 T 0.22 0.047 N 0.025 0.013 -0.998 0.304 T 0.000 0.000 T . . . -0.786 0.041 0.046 0.604 0.063 0.092 0.148 N c -1.777 -1.881 1.000 0.747 0.603 0.348 0 -10.6 0.002 -0.784 0.047 -1.213 0.015 0.000 0.063 0.000 0.016 13.970 0.636 Leucine-rich repeat domain\x2c L domain-like ENSG00000230266.1 Thyroid 0.3103 0.4313 0.2181 0.3437 0.3397 0.3555 0.2794 0.2960 0.4053 0.3349 0.4276 0.2249 0.3212 0.3238 0.3628 0.2840 0.3047 het 1189.25 89 3 194062519 . C T 1189.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.554;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0962;MQ=59.16;MQ0=0;MQRankSum=0.808;QD=13.36;ReadPosRankSum=2.072;VQSLOD=5.5418;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,45:89:99:1219,0,1106 3 194062565 194062565 C T exonic CPN2 synonymous SNV CPN2:NM_001080513:exon2:c.G867A:p.P289P,CPN2:NM_001291988:exon2:c.G867A:p.P289P 0.63 0.61 0.5 0.7 0.67 0.62 0.6405 0.6250 0.4078 0.7243 0.6942 0.6775 0.6220 0.5989 0.65 0.62 0.67 0.74 0.64 rs3732476 COSM4157511 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6312 0.6207 0.4196 0.6833 0.7259 0.6866 0.6749 0.6271 0.5996 0.6568 0.6197 0.4532 0.6722 0.7126 0.6946 0.6738 0.6691 hom 2357.83 75 3 194062565 . C T 2357.83 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.88;MQ0=0;QD=31.44;VQSLOD=8.6677;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2391,196,0 3 194063153 194063153 G A exonic CPN2 synonymous SNV CPN2:NM_001080513:exon2:c.C279T:p.F93F,CPN2:NM_001291988:exon2:c.C279T:p.F93F 0.26 0.16 0.22 0.38 0.35 0.2 0.3244 0.1998 0.1863 0.3785 0.3378 0.3939 0.3042 0.1865 0.32 0.21 0.38 0.34 0.36 rs3732474 COSM3759940 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3192 0.1907 0.2014 0.3374 0.3835 0.3307 0.3941 0.3274 0.1882 0.3220 0.1931 0.2309 0.3510 0.3869 0.3315 0.3899 0.3582 het 2560.21 179 3 194063153 . G A 2560.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.828;DP=179;Dels=0.00;FS=2.633;HRun=2;HaplotypeScore=12.0263;MQ=59.13;MQ0=0;MQRankSum=2.245;QD=14.30;ReadPosRankSum=-0.903;VQSLOD=2.3879;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,93:179:99:2590,0,2217 3 194063300 194063300 T C exonic CPN2 synonymous SNV CPN2:NM_001080513:exon2:c.A132G:p.P44P,CPN2:NM_001291988:exon2:c.A132G:p.P44P 0.78 0.83 0.69 0.79 0.82 0.71 0.7973 0.8321 0.6822 0.8001 0.8595 0.8234 0.7848 0.7243 0.82 0.82 0.82 0.89 0.76 rs62288099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7938 0.8314 0.6939 0.7981 0.7990 0.8618 0.8238 0.7869 0.7234 0.8199 0.8223 0.7220 0.8013 0.7824 0.8615 0.8186 0.8227 hom 5006.27 172 3 194063300 . T C 5006.27 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0966;MQ=58.67;MQ0=0;QD=29.11;VQSLOD=3.6364;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5005,442,0 3 194080336 194080336 G A exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.C1437T:p.P479P,LRRC15:NM_001135057:exon3:c.C1455T:p.P485P 0.15 0.17 0.14 0.069 0.24 0.12 0.2139 0.1691 0.1118 0.0554 0.2937 0.2728 0.2267 0.1253 0.23 0.17 0.26 0.21 0.24 rs4974533 COSM1178304;COSM3759941 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2050 0.1629 0.1123 0.2223 0.0519 0.2776 0.2681 0.2155 0.1252 0.2319 0.1758 0.1122 0.2252 0.0502 0.2840 0.2768 0.2637 het 715.97 45 3 194080336 . G A 715.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.553;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=-2.067;QD=15.91;ReadPosRankSum=0.086;VQSLOD=5.4873;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,25:45:99:746,0,533 3 194080648 194080648 G A exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.C1125T:p.N375N,LRRC15:NM_001135057:exon3:c.C1143T:p.N381N 0.15 0.16 0.14 0.069 0.24 0.12 0.2114 0.1637 0.1100 0.0540 0.2911 0.2702 0.2262 0.1243 0.23 0.17 0.26 0.21 0.24 rs9682540 COSM3759942;COSM3759943 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2044 0.1588 0.1115 0.2220 0.0517 0.2781 0.2673 0.2149 0.1252 0.2300 0.1703 0.1112 0.2252 0.05 0.2836 0.2764 0.2612 het 937.52 75 3 194080648 . G A 937.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.004;DP=75;Dels=0.00;FS=4.468;HRun=0;HaplotypeScore=0.0000;MQ=58.88;MQ0=0;MQRankSum=-1.192;QD=12.50;ReadPosRankSum=-1.160;VQSLOD=4.4728;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,37:75:99:968,0,995 3 194080696 194080696 G A exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.C1077T:p.N359N,LRRC15:NM_001135057:exon3:c.C1095T:p.N365N 0.12 0.093 0.11 0.069 0.21 0.11 0.1869 0.0959 0.0940 0.0538 0.2597 0.2480 0.1991 0.1026 0.19 0.098 0.23 0.15 0.25 rs9682541 COSM3759945;COSM3759944 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1805 0.0921 0.0942 0.1968 0.0513 0.2497 0.2439 0.1922 0.1035 0.1944 0.0972 0.0943 0.2053 0.0495 0.2599 0.2544 0.2321 het 1130.84 74 3 194080696 . G A 1130.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.356;DP=74;Dels=0.00;FS=8.096;HRun=0;HaplotypeScore=3.3227;MQ=58.87;MQ0=0;MQRankSum=-1.008;QD=15.28;ReadPosRankSum=0.164;VQSLOD=3.7193;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,43:74:99:1161,0,841 3 194080916 194080916 G A exonic LRRC15 nonsynonymous SNV LRRC15:NM_130830:exon2:c.C857T:p.P286L,LRRC15:NM_001135057:exon3:c.C875T:p.P292L 0.12 0.093 0.11 0.069 0.21 0.11 0.1874 0.0965 0.0937 0.0537 0.2589 0.2479 0.1991 0.1062 0.19 0.098 0.23 0.15 0.24 rs13070515 COSM3759947;COSM3759946 1(large_intestine) . . . . . . . . . . . 0.016 0.518 D 0.999 0.899 D 0.948 0.722 D . . . 0.000 0.588 P 1.785 0.466 L 2.83 0.108 T -2.99 0.626 D 0.308 0.451 -1.102 0.038 T 0.000 0.000 T . . . 5.107 0.688 25.3 0.999 0.958 0.982 0.799 D c 0.677 0.616 1.000 0.747 0.554 0.283 0 5.15 0.702 4.789 0.619 1.048 0.713 1.000 0.715 0.473 0.266 15.376 0.742 Leucine-rich repeat domain\x2c L domain-like ENSG00000178772.6 Thyroid 0.1810 0.0921 0.0940 0.1970 0.0512 0.2497 0.2440 0.1926 0.1073 0.1941 0.0970 0.0943 0.2053 0.0488 0.2602 0.2540 0.2306 het 1731.08 89 3 194080916 . G A 1731.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.200;DP=89;Dels=0.00;FS=4.347;HRun=0;HaplotypeScore=0.9665;MQ=59.48;MQ0=0;MQRankSum=1.185;QD=19.45;ReadPosRankSum=2.877;VQSLOD=3.2222;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,59:89:99:1761,0,730 3 194080983 194080983 C T exonic LRRC15 nonsynonymous SNV LRRC15:NM_130830:exon2:c.G790A:p.V264I,LRRC15:NM_001135057:exon3:c.G808A:p.V270I 0.16 0.19 0.14 0.069 0.24 0.13 0.2147 0.1958 0.1110 0.0540 0.2900 0.2702 0.2251 0.1285 0.24 0.2 0.26 0.24 0.23 rs13060627 COSM3759948;COSM3759949 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 0.025 0.080 N 1.86 0.243 T 0.32 0.040 N 0.037 0.025 -0.956 0.400 T 0.000 0.000 T . . . -0.195 0.076 1.123 0.138 0.003 0.128 0.173 N c -0.641 -0.453 0.311 0.193 0.497 0.185 0 3.91 0.442 0.425 0.209 0.154 0.240 0.968 0.339 0.979 0.486 6.894 0.233 Leucine-rich repeat domain\x2c L domain-like ENSG00000172061.7|ENSG00000178772.6 Lung|Thyroid 0.2069 0.1884 0.1127 0.2216 0.0517 0.2780 0.2673 0.2158 0.1294 0.2385 0.1992 0.1134 0.2252 0.0499 0.2838 0.2768 0.2637 het 1215.51 95 3 194080983 . C T 1215.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.053;DP=95;Dels=0.00;FS=3.883;HRun=0;HaplotypeScore=0.9578;MQ=59.76;MQ0=0;MQRankSum=-1.135;QD=12.79;ReadPosRankSum=-1.529;VQSLOD=4.9900;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,46:95:99:1246,0,1308 3 194081089 194081089 C T exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.G684A:p.L228L,LRRC15:NM_001135057:exon3:c.G702A:p.L234L 0.15 0.16 0.14 0.069 0.24 0.12 0.2112 0.1636 0.1095 0.0541 0.2898 0.2700 0.2252 0.1243 0.23 0.17 0.26 0.21 0.25 rs11713861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2043 0.1589 0.1114 0.2218 0.0518 0.2781 0.2672 0.2148 0.1253 0.2297 0.1705 0.1122 0.2252 0.0506 0.2835 0.2757 0.2613 het 3110.54 223 3 194081089 . C T 3110.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.933;DP=223;Dels=0.00;FS=1.092;HRun=0;HaplotypeScore=8.3549;MQ=59.81;MQ0=0;MQRankSum=-0.358;QD=13.95;ReadPosRankSum=-1.013;VQSLOD=3.4913;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,125:223:99:3141,0,2640 3 194081179 194081179 G A exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.C594T:p.N198N,LRRC15:NM_001135057:exon3:c.C612T:p.N204N 0.12 0.093 0.11 0.069 0.21 0.11 0.1870 0.0956 0.0937 0.0534 0.2586 0.2475 0.1982 0.1061 0.19 0.098 0.23 0.15 0.24 rs11715737 COSM3759951;COSM3759950 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1809 0.0920 0.0940 0.1970 0.0511 0.2496 0.2438 0.1924 0.1072 0.1934 0.0966 0.0943 0.2053 0.0471 0.2599 0.2530 0.2311 het 4616.26 250 3 194081179 . G A 4616.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.237;DP=250;DS;Dels=0.00;FS=0.475;HRun=0;HaplotypeScore=8.3792;MQ=59.18;MQ0=0;MQRankSum=0.154;QD=18.47;ReadPosRankSum=0.443;VQSLOD=2.9113;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,143:250:99:3944,0,2934 3 194081392 194081392 G A exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.C381T:p.L127L,LRRC15:NM_001135057:exon3:c.C399T:p.L133L 0.12 0.093 0.11 0.069 0.21 0.11 0.1863 0.0956 0.0935 0.0534 0.2585 0.2463 0.1991 0.1061 0.19 0.098 0.23 0.15 0.24 rs923936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1799 0.0916 0.0937 0.1947 0.0511 0.2495 0.2421 0.1915 0.1072 0.1928 0.0965 0.0921 0.2053 0.0494 0.2600 0.2517 0.2301 het 1517 114 3 194081392 . G A 1517 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.038;DP=114;Dels=0.00;FS=4.911;HRun=1;HaplotypeScore=2.2633;MQ=59.27;MQ0=0;MQRankSum=-0.705;QD=13.31;ReadPosRankSum=-1.315;VQSLOD=4.7155;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,53:114:99:1547,0,1713 3 194081635 194081635 T C exonic LRRC15 synonymous SNV LRRC15:NM_130830:exon2:c.A138G:p.A46A,LRRC15:NM_001135057:exon3:c.A156G:p.A52A 0.15 0.16 0.14 0.069 0.24 0.12 0.2162 0.1649 0.1101 0.0544 0.2970 0.2728 0.2336 0.1356 0.23 0.17 0.26 0.21 0.24 rs923935 COSM3759953;COSM3759952 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2026 0.1589 0.1110 0.2200 0.0517 0.2798 0.2663 0.2126 0.1240 0.2300 0.1705 0.1122 0.2252 0.05 0.2836 0.2763 0.2603 het 741.75 62 3 194081635 . T C 741.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.520;DP=62;Dels=0.00;FS=2.318;HRun=1;HaplotypeScore=4.8218;MQ=59.40;MQ0=0;MQRankSum=0.036;QD=11.96;ReadPosRankSum=-0.339;VQSLOD=4.8900;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:32,29:62:99:772,0,965 3 194118874 194118874 T C exonic GP5 synonymous SNV GP5:NM_004488:exon2:c.A138G:p.L46L 0.99 0.99 0.99 1. 0.96 1. 0.9704 0.9909 0.9906 0.9998 0.9709 0.9537 0.9740 0.9939 0.97 0.99 0.95 0.97 0.93 rs1223989 COSM3759956;COSM3759957 5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9716 0.9919 0.9899 0.9855 0.9999 0.9702 0.9514 0.9745 0.9938 0.9704 0.9927 0.9928 0.9967 1 0.9768 0.9513 0.9654 hom 3161.52 90 3 194118874 . T C 3161.52 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=35.13;VQSLOD=8.7981;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3195,256,0 3 194349178 194349178 C T exonic TMEM44 synonymous SNV TMEM44:NM_001011655:exon2:c.G198A:p.A66A,TMEM44:NM_001166305:exon2:c.G198A:p.A66A,TMEM44:NM_001166306:exon2:c.G198A:p.A66A,TMEM44:NM_138399:exon2:c.G198A:p.A66A 0.35 0.25 0.3 0.44 0.33 0.43 0.3713 0.2705 0.2944 0.4873 0.4394 0.3534 0.4429 0.4645 0.31 0.25 0.34 0.32 0.26 rs1563970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3589 0.2515 0.2790 0.4032 0.4798 0.4301 0.3344 0.3526 0.4556 0.3288 0.2537 0.2692 0.4205 0.4950 0.4249 0.3316 0.3595 het 359.42 35 3 194349178 . C T 359.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DP=35;Dels=0.00;FS=14.361;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=1.604;QD=10.27;ReadPosRankSum=0.983;VQSLOD=3.5005;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:389,0,491 3 194373832 194373832 T C exonic LSG1 nonsynonymous SNV LSG1:NM_018385:exon8:c.A799G:p.K267E 0.63 0.33 0.63 0.87 0.7 0.75 0.6770 0.3852 0.5733 0.8669 0.7756 0.6902 0.6976 0.7406 0.59 0.4 0.68 . 0.67 rs1675953 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.619 0.108 N 1 0.090 P -2.085 0.002 N 0.98 0.421 T 1.65 0.006 N 0.051 0.032 -0.952 0.406 T 0.000 0.000 T . . . -0.438 0.059 0.313 0.659 0.077 0.000 0.003 N c -1.328 -1.200 0.188 0.180 0.707 0.730 0 4.34 0.511 0.618 0.239 0.016 0.142 0.015 0.189 0.043 0.159 8.577 0.326 Circularly permuted (CP)-type guanine nucleotide-binding (G) domain . . 0.6799 0.3803 0.5797 0.6679 0.8699 0.7770 0.6871 0.6729 0.7407 0.6259 0.3899 0.5974 0.6267 0.8850 0.7734 0.6978 0.6957 het 1884.57 166 3 194373832 . T C 1884.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.774;DP=166;Dels=0.00;FS=1.225;HRun=0;HaplotypeScore=4.9745;MQ=58.77;MQ0=0;MQRankSum=-0.197;QD=11.35;ReadPosRankSum=-0.015;VQSLOD=5.2903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,74:166:99:1915,0,2372 3 194373833 194373833 G A exonic LSG1 synonymous SNV LSG1:NM_018385:exon8:c.C798T:p.T266T 0.63 0.33 0.63 0.87 0.7 0.75 0.6765 0.3847 0.5726 0.8669 0.7756 0.6900 0.6954 0.7384 0.59 0.4 0.68 . 0.67 rs1705991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6794 0.3797 0.5792 0.6676 0.8698 0.7769 0.6869 0.6718 0.7383 0.6260 0.3896 0.5988 0.6267 0.8839 0.7734 0.6980 0.6957 het 1802.87 165 3 194373833 . G A 1802.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.597;DP=165;Dels=0.00;FS=0.577;HRun=0;HaplotypeScore=4.9745;MQ=58.76;MQ0=0;MQRankSum=-0.034;QD=10.93;ReadPosRankSum=0.195;VQSLOD=5.3502;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,73:165:99:1833,0,2422 3 194387300 194387300 C T exonic LSG1 synonymous SNV LSG1:NM_018385:exon3:c.G228A:p.E76E 0.43 0.26 0.45 0.44 0.53 0.51 0.4785 0.2963 0.3676 0.3876 0.4909 0.5294 0.4537 0.5064 0.45 0.3 0.53 0.37 0.52 rs1675943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4754 0.2923 0.3809 0.4988 0.3896 0.4841 0.5293 0.4948 0.5034 0.4488 0.3019 0.4137 0.4832 0.3883 0.4796 0.5317 0.4990 het 998.59 82 3 194387300 . C T 998.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.753;DP=82;Dels=0.00;FS=7.661;HRun=3;HaplotypeScore=1.9092;MQ=59.72;MQ0=0;MQRankSum=-1.039;QD=12.18;ReadPosRankSum=1.039;VQSLOD=4.4874;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,41:82:99:1029,0,1061 3 194408704 194408704 A G exonic FAM43A synonymous SNV FAM43A:NM_153690:exon1:c.A1149G:p.S383S 0.71 0.81 0.63 0.77 0.63 0.68 0.6559 0.7829 0.5777 0.7845 0.7243 0.6269 0.6897 0.6686 0.7 0.8 0.65 0.25 0.48 rs4677673 COSM1566494 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6438 0.7772 0.5619 0.6958 0.7799 0.6992 0.6088 0.6448 0.6449 0.6923 0.7975 0.5637 0.7067 0.8050 0.6943 0.6290 0.6355 het 349.18 23 3 194408704 . A G 349.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.228;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.850;QD=15.18;ReadPosRankSum=-1.543;VQSLOD=10.7426;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,14:23:99:379,0,214 3 195453064 195453064 T G exonic MUC20 synonymous SNV MUC20:NM_001282506:exon2:c.T1590G:p.L530L,MUC20:NM_001291833:exon4:c.T1077G:p.L359L,MUC20:NM_020790:exon4:c.T1134G:p.L378L,MUC20:NM_152673:exon4:c.T1077G:p.L359L . . . . . . 0.8209 0.9715 0.6985 0.8212 0.7891 0.8489 0.8243 0.7162 0.88 0.97 0.84 0.88 . rs2550233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8134 0.9728 0.7064 0.8678 0.8267 0.7990 0.8457 0.8278 0.7165 0.8572 0.9695 0.7342 0.8759 0.8026 0.7963 0.8215 0.8018 hom 1411.36 52 3 195453064 . T G 1411.36 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7843;MQ=45.51;MQ0=6;QD=27.14;VQSLOD=2.5592;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1444,108,0 3 195475799 195475799 C T exonic MUC4 synonymous SNV MUC4:NM_138297:exon22:c.G3147A:p.Q1049Q,MUC4:NM_004532:exon23:c.G3300A:p.Q1100Q,MUC4:NM_018406:exon24:c.G16008A:p.Q5336Q 0.053 0.015 0.072 0.001 0.14 0.057 0.0919 0.0325 0.0628 0.0004 0.0848 0.1258 0.1095 0.0622 0.094 0.029 0.13 0.087 0.11 rs3205933 COSM1566491;COSM1566490;COSM1566492 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0879 0.0251 0.0636 0.2226 0.0006 0.0809 0.1149 0.1135 0.0532 0.0744 0.0234 0.0831 0.26 0 0.0868 0.1043 0.0885 het 1505.31 130 3 195475799 . C T 1505.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.139;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6087;MQ=59.82;MQ0=0;MQRankSum=-0.262;QD=11.58;ReadPosRankSum=0.874;VQSLOD=5.1428;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,59:130:99:1535,0,2051 3 195477786 195477786 C T exonic MUC4 nonsynonymous SNV MUC4:NM_138297:exon21:c.G2984A:p.G995E,MUC4:NM_004532:exon22:c.G3137A:p.G1046E,MUC4:NM_018406:exon23:c.G15845A:p.G5282E 0.06 0.035 0.076 0.001 0.15 0.057 0.0960 0.0430 0.0645 0.0005 0.0869 0.1313 0.1208 0.0617 0.1 0.039 0.13 0.043 0.16 rs6808605 COSM4157522;COSM4157523;COSM4157524 1(thyroid) . . . . . . . . . . . 0.046 0.405 D 0.011 0.309 B 0.002 0.266 B 0.015 0.285 N 1 0.090 P 0 0.065 N 1.28 0.360 T 0.73 0.066 N 0.111 0.184 -1.008 0.274 T 0.000 0.002 T . . . 1.842 0.282 15.23 0.792 0.122 0.050 0.107 N c -1.195 -1.167 0.000 0.029 0.554 0.283 0 1.33 0.209 -0.099 0.109 -0.343 0.071 0.008 0.178 0.072 0.177 7.681 0.275 . ENSG00000224769.1|ENSG00000242086.4 Esophagus_Mucosa|Thyroid 0.0997 0.0369 0.0782 0.2601 0.0006 0.0908 0.1272 0.1304 0.0601 0.0830 0.0355 0.0827 0.2914 0 0.0926 0.1122 0.0992 hom 4926.68 155 3 195477786 . C T 4926.68 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=54.96;MQ0=0;QD=31.79;VQSLOD=6.1519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4926,382,0 3 195479256 195479256 T C exonic MUC4 synonymous SNV MUC4:NM_138297:exon19:c.A2709G:p.E903E,MUC4:NM_004532:exon20:c.A2862G:p.E954E,MUC4:NM_018406:exon21:c.A15570G:p.E5190E 0.81 0.65 0.93 0.82 0.93 0.82 0.8813 0.6766 0.9571 0.8062 0.8743 0.9227 0.8976 0.8313 0.84 0.68 0.92 0.77 0.84 rs2258447 COSM4157530;COSM4157529;COSM4157528 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8866 0.6693 0.9558 0.9328 0.8123 0.8770 0.9191 0.9121 0.8305 0.8394 0.6869 0.9463 0.9238 0.7825 0.8838 0.9128 0.8885 hom 4151.14 129 3 195479256 . T C 4151.14 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=32.18;VQSLOD=9.0173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4151,316,0 3 195489067 195489067 C G exonic MUC4 synonymous SNV MUC4:NM_138297:exon12:c.G1542C:p.S514S,MUC4:NM_004532:exon13:c.G1695C:p.S565S,MUC4:NM_018406:exon14:c.G14403C:p.S4801S 0.42 0.15 0.41 0.76 0.45 0.42 0.4927 0.2287 0.4729 0.7340 0.5501 0.5094 0.5156 0.4350 0.37 0.21 0.46 0.34 0.25 rs2246980 COSM1421869;COSM1421868;COSM1421867 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4609 0.1830 0.4218 0.5533 0.7371 0.5333 0.4550 0.4646 0.4167 0.4027 0.1945 0.4332 0.5629 0.7264 0.5370 0.4487 0.4569 het 62.68 17 3 195489067 . C G 62.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.302;QD=3.69;ReadPosRankSum=-0.510;VQSLOD=8.7746;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,4:17:92.68:93,0,370 3 195497174 195497174 C G exonic MUC4 nonsynonymous SNV MUC4:NM_138297:exon4:c.G450C:p.M150I,MUC4:NM_004532:exon5:c.G603C:p.M201I,MUC4:NM_018406:exon6:c.G13311C:p.M4437I 0.83 0.99 0.71 0.82 0.84 0.68 0.7996 0.9697 0.6389 0.8066 0.7697 0.8327 0.8086 0.6791 0.87 0.96 0.82 0.87 0.8 rs2259102 . . . . . . . . . . . . . 0.357 0.120 T 0.003 0.102 B 0.0 0.013 B 0.244 0.156 N 1 0.090 P 0 0.065 N 1.24 0.367 T 0.28 0.065 N 0.014 0.080 -1.060 0.118 T 0.000 0.000 T . . . -0.767 0.042 0.051 0.382 0.026 0.001 0.008 N c -1.505 -1.497 0.000 0.057 0.403 0.052 0 -1.59 0.080 -0.817 0.045 -0.261 0.088 0.000 0.063 0.003 0.074 2.155 0.035 NIDO domain ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10|ENSG00000145113.17|ENSG00000145113.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.7902 0.9692 0.6485 0.8502 0.8151 0.7793 0.8302 0.8051 0.6832 0.8402 0.9675 0.7005 0.8411 0.7887 0.7780 0.7975 0.7807 hom 1934.41 58 3 195497174 . C G 1934.41 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.673;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.60;MQ0=0;MQRankSum=0.119;QD=33.35;ReadPosRankSum=0.299;VQSLOD=8.9361;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,57:58:99:1967,153,0 3 195501149 195501149 C T exonic MUC4 nonsynonymous SNV MUC4:NM_138297:exon2:c.G110A:p.G37D,MUC4:NM_004532:exon3:c.G263A:p.G88D,MUC4:NM_018406:exon4:c.G12971A:p.G4324D 0.59 0.56 0.51 0.76 0.58 0.51 0.5856 0.5712 0.5014 0.7323 0.6101 0.5915 0.5962 0.5324 0.58 0.59 0.58 0.52 0.54 rs2259292 COSM3759976;COSM3759975;COSM3759974 1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.667 0.046 T 0.478 0.348 P 0.125 0.310 B 0.098 0.025 N 1 0.090 P 0.895 0.225 L 1.19 0.376 T 0.21 0.053 N 0.123 0.477 -0.934 0.435 T 0.000 0.000 T . . . 1.751 0.271 14.70 0.819 0.134 0.013 0.044 N c -1.252 -1.298 0.079 0.158 0.534 0.214 0 -2.14 0.067 -1.792 0.018 0.017 0.142 0.000 0.063 0.000 0.016 0.199 0.001 . ENSG00000224769.1|ENSG00000185485.10|ENSG00000271662.1|ENSG00000145113.17|ENSG00000224769.1|ENSG00000145113.17|ENSG00000229178.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000272792.1|ENSG00000271662.1|ENSG00000224769.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000272792.1|ENSG00000242086.4|ENSG00000224769.1|ENSG00000272792.1|ENSG00000224769.1|ENSG00000224769.1|ENSG00000242086.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.5865 0.5717 0.5138 0.6748 0.7447 0.6211 0.5899 0.5948 0.5142 0.5740 0.5623 0.5203 0.6523 0.7165 0.6112 0.5580 0.5760 hom 2206.81 74 3 195501149 . C T 2206.81 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.38;MQ0=0;QD=29.82;VQSLOD=9.1889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2240,184,0 3 195505664 195505664 G A exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.C12787T:p.P4263S 0.79 0.99 0.66 0.81 0.84 0.54 0.8052 0.9697 0.6492 0.7979 0.7709 0.8358 0.8185 0.6938 0.87 0.97 0.83 0.85 . rs2688513 COSM4005332;COSM4005331 1(urinary_tract);1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.022 0.174 B 0.009 0.133 B 0.404 0.045 N 1 0.090 P . . . 1.56 0.296 T 0.7 0.026 N 0.194 0.238 -0.982 0.345 T 0.000 0.000 T . . . -0.556 0.052 0.160 0.298 0.016 0.001 0.006 N c -1.217 -1.257 0.000 0.029 0.554 0.283 0 0.274 0.148 0.294 0.187 -0.296 0.082 0.371 0.257 0.002 0.062 3.562 0.074 . ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10|ENSG00000145113.17|ENSG00000145113.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.7873 0.9675 0.6331 0.8689 0.8064 0.7832 0.8316 0.8052 0.6760 0.8111 0.9669 0.6739 0.7020 0.7783 0.7772 0.7302 0.7664 hom 547.99 22 3 195505664 . G A 547.99 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.03;MQ0=0;QD=24.91;VQSLOD=8.1860;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:48.13:581,48,0 3 195515568 195515568 C T exonic MUC4 synonymous SNV MUC4:NM_018406:exon2:c.G2883A:p.G961G 0.2 0.33 0.15 0.052 0.26 0.15 0.2107 0.3019 0.1253 0.0625 0.1629 0.2453 0.2107 0.1636 0.25 0.28 0.23 0.28 . rs62282504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1956 0.2944 0.1271 0.1998 0.0573 0.1584 0.2420 0.2134 0.1550 0.2328 0.3124 0.1607 0.2384 0.0488 0.1649 0.2298 0.2153 het 750.10 43 3 195515568 . C T 750.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.020;DP=43;Dels=0.00;FS=2.874;HRun=0;HaplotypeScore=0.0000;MQ=57.82;MQ0=0;MQRankSum=0.879;QD=17.44;ReadPosRankSum=-0.905;VQSLOD=3.3499;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,28:43:99:780,0,372 3 195515594 195515594 C G exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.G2857C:p.E953Q 0.72 0.61 0.68 0.83 0.85 0.66 0.7760 0.6418 0.6450 0.8043 0.7856 0.8415 0.8022 0.6612 0.77 0.66 0.83 0.64 . rs13095016 . . . . . . . . . . . . . 1.0 0.010 T 0.967 0.544 D 0.492 0.456 P 0.001 0.007 N 1 0.090 P . . . 1.63 0.284 T 0.1 0.058 N 0.023 0.012 -0.856 0.516 T 0.000 0.000 T . . . -0.179 0.078 1.212 0.529 0.047 0.004 0.019 N c -0.808 -1.053 0.000 0.038 0.554 0.283 0 -2.59 0.058 -2.471 0.011 0.535 0.282 0.000 0.063 0.005 0.090 1.034 0.014 . ENSG00000145113.17|ENSG00000176945.12|ENSG00000176945.12|ENSG00000185485.10|ENSG00000145113.17|ENSG00000176945.12|ENSG00000145113.17|ENSG00000145113.17|ENSG00000145113.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.7716 0.6336 0.6453 0.8685 0.8110 0.7963 0.8374 0.7980 0.6611 0.7506 0.6330 0.6966 0.8543 0.7808 0.7900 0.8059 0.7678 hom 1690.71 51 3 195515594 . C G 1690.71 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.17;MQ0=0;QD=33.15;VQSLOD=8.3345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1724,138,0 3 195515617 195515617 G C exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.C2834G:p.T945S 0.92 1. 0.97 0.83 0.95 0.86 0.9327 0.9901 0.9782 0.7994 0.9458 0.9445 0.9444 0.8823 0.96 0.99 0.94 0.9 . rs2641776 COSM4157921;COSM4157922 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.006 0.126 B 0.004 0.093 B 0.058 0.021 N 1 0.090 P . . . 1.79 0.258 T 0.07 0.061 N 0.019 0.009 -0.999 0.302 T 0.000 0.000 T . . . -1.626 0.014 0.002 0.148 0.003 0.001 0.007 N c -1.967 -2.108 0.075 0.157 0.554 0.283 0 -5.56 0.023 -3.097 0.007 -1.489 0.010 0.000 0.063 0.000 0.016 8.819 0.340 . . . 0.9338 0.9889 0.9787 0.9504 0.8067 0.9473 0.9419 0.9395 0.8840 0.9478 0.9887 0.9713 0.9533 0.7769 0.9522 0.9406 0.9379 hom 1721.90 57 3 195515617 . G C 1721.90 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.69;MQ0=0;QD=30.21;VQSLOD=7.9596;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1755,138,0 3 195516630 195516630 G T exonic MUC4 synonymous SNV MUC4:NM_018406:exon2:c.C1821A:p.S607S 0.83 0.99 0.69 0.82 0.84 0.69 0.7973 0.9687 0.6315 0.7970 0.7890 0.8321 0.8089 0.6737 0.87 0.97 0.83 0.86 . rs3103954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7896 0.9692 0.6429 0.8564 0.8044 0.7969 0.8297 0.8042 0.6777 0.8404 0.9669 0.6902 0.8510 0.7773 0.7918 0.7965 0.7872 hom 8292.79 250 3 195516630 . G T 8292.79 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2880;MQ=59.38;MQ0=0;QD=33.17;VQSLOD=7.7319;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8292,683,0 3 195516878 195516878 T C exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.A1573G:p.T525A 0.77 0.81 0.68 0.82 0.84 0.68 0.7806 0.8147 0.6189 0.7975 0.7889 0.8299 0.8009 0.6611 0.82 0.82 0.82 0.78 . rs2177336 . . . . . . . . . . . . . 1.0 0.010 T 0.053 0.211 B 0.009 0.133 B 0.000 0.005 N 1 0.090 P . . . 1.83 0.253 T 0.1 0.058 N 0.04 0.020 -0.963 0.385 T 0.000 0.000 T . . . -1.284 0.022 0.005 0.328 0.019 0.001 0.007 N c -1.405 -1.544 0.000 0.038 0.497 0.185 0 -2.77 0.055 -2.559 0.010 0.495 0.279 0.000 0.063 0.002 0.062 2.700 0.048 . ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.7749 0.8132 0.6298 0.8416 0.8054 0.7969 0.8278 0.7918 0.6650 0.7956 0.8134 0.6763 0.8311 0.7781 0.7925 0.7950 0.7761 hom 2612.86 73 3 195516878 . T C 2612.86 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.01;FS=0.000;HRun=3;HaplotypeScore=6.8104;MQ=58.49;MQ0=0;QD=35.31;VQSLOD=6.0667;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2646,211,0 3 195517258 195517258 G A exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.C1193T:p.T398I 0.77 0.81 0.68 0.82 0.84 0.68 0.7807 0.8147 0.6190 0.7985 0.7891 0.8299 0.8013 0.6611 0.82 0.83 0.82 0.78 . rs1106502 COSM149620;COSM149619 1(stomach) . . . . . . . . . . . 1.0 0.010 T 0.068 0.222 B 0.031 0.206 B 0.213 0.034 U 1 0.090 P . . . 1.85 0.248 T 0.13 0.055 N 0.1 0.141 -0.999 0.303 T 0.000 0.000 T . . . -0.212 0.075 1.034 0.344 0.021 0.013 0.044 N c -1.016 -1.118 0.000 0.029 0.615 0.372 0 0.754 0.175 -1.336 0.027 -0.062 0.121 0.000 0.063 0.001 0.043 3.567 0.074 . ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.7749 0.8131 0.6304 0.8414 0.8056 0.7969 0.8277 0.7918 0.6647 0.7952 0.8128 0.6766 0.8311 0.7783 0.7924 0.7945 0.7786 hom 5493.99 168 3 195517258 . G A 5493.99 Mask AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7552;MQ=58.95;MQ0=0;QD=32.70;VQSLOD=9.8613;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,168:168:99:5493,457,0 3 195517321 195517321 G A exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.C1130T:p.T377I 0.77 0.81 0.68 0.82 0.84 0.68 0.7805 0.8146 0.6185 0.7981 0.7891 0.8298 0.7996 0.6609 0.82 0.83 0.82 0.78 . rs1104760 COSM4005515;COSM4005514 1(urinary_tract) . . . . . . . . . . . 1.0 0.010 T 0.114 0.248 B 0.144 0.322 B 0.749 0.097 U 1 0.090 P . . . 1.64 0.280 T 0.13 0.055 N 0.091 0.321 -1.040 0.174 T 0.000 0.000 T . . . -0.705 0.045 0.070 0.197 0.007 0.019 0.057 N c -1.149 -1.283 0.000 0.029 0.554 0.283 0 -0.914 0.099 0.373 0.201 0.777 0.313 0.001 0.137 0.005 0.090 4.535 0.113 . ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.7748 0.8131 0.6299 0.8414 0.8054 0.7969 0.8276 0.7918 0.6648 0.7956 0.8129 0.6754 0.8311 0.7792 0.7922 0.7955 0.7765 hom 7714.71 250 3 195517321 . G A 7714.71 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2003;MQ=58.93;MQ0=0;QD=30.86;VQSLOD=4.8937;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7714,617,0 3 195517553 195517553 A C exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.T898G:p.F300V 0.77 0.81 0.69 0.82 0.84 0.68 0.7809 0.8149 0.6194 0.7980 0.7893 0.8301 0.8013 0.6612 0.83 0.83 0.82 0.78 . rs882605 . . . . . . . . . . . . . 1.0 0.010 T 0.003 0.102 B 0.0 0.013 B . . . 1 0.090 P . . . 1.76 0.262 T 0.1 0.058 N 0.039 0.032 -1.016 0.249 T 0.000 0.000 T . . . -1.401 0.019 0.003 0.502 0.043 0.001 0.005 N c -2.027 -2.173 0.623 0.219 0.554 0.283 0 -7.14 0.014 -2.611 0.010 -1.948 0.005 0.000 0.063 0.000 0.016 0.344 0.003 . ENSG00000145113.17|ENSG00000185485.10|ENSG00000176945.12|ENSG00000145113.17|ENSG00000145113.17|ENSG00000176945.12|ENSG00000185485.10|ENSG00000185485.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.7752 0.8134 0.6304 0.8415 0.8055 0.7971 0.8280 0.7925 0.6651 0.7952 0.8124 0.6794 0.8311 0.7778 0.7925 0.7946 0.7787 hom 4114.31 117 3 195517553 . A C 4114.31 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.92;MQ0=0;QD=35.17;VQSLOD=10.0838;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:4114,325,0 3 195518112 195518112 - GTCTCCTGCGTAACA exonic;splicing MUC4;MUC4 NM_001322468:exon2:c.338+1->TGTTACGCAGGAGAC nonframeshift insertion MUC4:NM_018406:exon2:c.338_339insTGTTACGCAGGAGAC:p.T113_A114insVTQET 0.73 0.66 0.68 0.81 0.82 0.68 0.7527 0.6803 0.6058 0.7792 0.7850 0.8060 0.7879 0.6548 0.75 0.66 0.79 0.033 . rs71180965 COSM1421936;COSM1617396 1(liver);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7352 0.6684 0.6559 0.82 0.7544 0.7925 0.7604 0.7480 hom 17127.88 95 3 195518112 . T TGTCTCCTGCGTAACA 17127.88 Mask AC=2;AF=1.00;AN=2;DP=95;FS=0.000;HRun=0;HaplotypeScore=910.7691;MQ=36.71;MQ0=0;QD=176.58;set=variant2 GT:AD:DP:GQ:PL 1/1:53,28:95:99:17128,274,0 3 195518330 195518330 C G exonic MUC4 nonsynonymous SNV MUC4:NM_018406:exon2:c.G121C:p.A41P 0.5 0.21 0.52 0.76 0.64 0.5 0.5769 0.2480 0.5156 0.7273 0.6612 0.6310 0.6217 0.4817 0.51 0.28 0.62 0.48 . rs3107764 . . . . . . . . . . . . . 1.0 0.010 T 0.006 0.126 B 0.001 0.040 B 0.118 0.027 U 1 0.090 P 0 0.065 N 0.8 0.488 T 0.26 0.044 N 0.091 0.181 -1.049 0.147 T 0.000 0.000 T . . . -1.987 0.008 0.001 0.273 0.013 0.001 0.007 N c -2.428 -2.520 1.000 0.446 0.554 0.283 0 -5.93 0.021 -3.013 0.007 -3.083 0.001 0.000 0.063 0.000 0.016 0.744 0.009 . ENSG00000224769.1|ENSG00000185485.10|ENSG00000272792.1|ENSG00000242086.4|ENSG00000271662.1|ENSG00000185485.10|ENSG00000242086.4|ENSG00000271662.1|ENSG00000272792.1|ENSG00000145113.17|ENSG00000229178.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000272792.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000185485.10|ENSG00000242086.4|ENSG00000229178.1|ENSG00000224769.1|ENSG00000271662.1|ENSG00000185485.10|ENSG00000272792.1|ENSG00000242086.4|ENSG00000272792.1|ENSG00000224769.1|ENSG00000260261.1|ENSG00000271662.1|ENSG00000185485.10|ENSG00000272792.1|ENSG00000242086.4|ENSG00000224769.1|ENSG00000185485.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.5834 0.2416 0.5223 0.6819 0.7364 0.6695 0.6253 0.6083 0.4838 0.5098 0.2458 0.5240 0.6510 0.7174 0.6686 0.5957 0.5830 hom 6484.04 214 3 195518330 . C G 6484.04 Mask AC=2;AF=1.00;AN=2;DP=214;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5119;MQ=58.42;MQ0=0;QD=30.30;VQSLOD=8.4948;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6483,512,0 3 195615376 195615376 A G exonic TNK2 synonymous SNV TNK2:NM_001010938:exon2:c.T273C:p.D91D,TNK2:NM_001308046:exon2:c.T180C:p.D60D,TNK2:NM_005781:exon2:c.T84C:p.D28D 0.44 0.67 0.42 0.46 0.29 0.29 0.3383 0.6022 0.3847 0.4413 0.2937 0.2888 0.3135 0.3054 0.39 0.59 0.29 0.52 0.23 rs3747669 . . Benign not_specified RCV000250321.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3357 0.6092 0.3876 0.4079 0.4429 0.2963 0.2770 0.3338 0.3020 0.3750 0.6015 0.3747 0.3841 0.4336 0.2859 0.2625 0.3045 het 1286.49 107 3 195615376 . A G 1286.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.071;DP=107;Dels=0.00;FS=4.841;HRun=0;HaplotypeScore=2.7834;MQ=58.38;MQ0=0;MQRankSum=0.519;QD=12.02;ReadPosRankSum=0.512;VQSLOD=5.4164;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,48:107:99:1316,0,1602 3 196050834 196050834 C T exonic TM4SF19 nonsynonymous SNV TM4SF19:NM_001204898:exon4:c.G406A:p.V136I,TM4SF19:NM_138461:exon5:c.G484A:p.V162I 0.048 0.053 0.072 . 0.11 0.014 0.0719 0.0577 0.0505 0 0.0697 0.0980 0.0692 0.0293 0.087 0.064 0.099 0.043 0.057 rs35643777 COSM5618141 1(breast) . . . . . . . . . . . 0.377 0.139 T 0.999 0.764 D 0.992 0.790 D 0.001 0.434 D 0.997 0.588 P 2.38 0.688 M 1.53 0.304 T -0.28 0.116 N . . -1.038 0.178 T 0.004 0.013 T . . . 2.334 0.342 18.39 0.988 0.459 0.363 0.253 N c -0.192 -0.171 1.000 0.747 0.622 0.393 0 4.26 0.497 0.832 0.270 -0.423 0.059 0.795 0.294 0.988 0.529 9.852 0.400 . ENSG00000163959.5|ENSG00000163959.5|ENSG00000163959.5|ENSG00000163959.5|ENSG00000235897.1|ENSG00000163959.5|ENSG00000163959.5|ENSG00000145113.17 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.0710 0.0566 0.0536 0.0819 0.0001 0.0734 0.0988 0.0804 0.0293 0.0697 0.0574 0.0586 0.0629 0 0.0696 0.0853 0.0672 het 676.19 58 3 196050834 . C T 676.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.928;DP=58;Dels=0.00;FS=1.238;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=-1.886;QD=11.66;ReadPosRankSum=-0.249;VQSLOD=5.6838;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,27:58:99:706,0,719 3 196054439 196054439 T G exonic TM4SF19 nonsynonymous SNV TM4SF19:NM_001204897:exon2:c.A23C:p.Q8P,TM4SF19:NM_001204898:exon2:c.A23C:p.Q8P,TM4SF19:NM_138461:exon2:c.A23C:p.Q8P 0.63 0.44 0.6 0.87 0.57 0.72 0.6194 0.4766 0.6440 0.9060 0.5507 0.5904 0.6186 0.6858 0.54 0.48 0.58 0.56 0.53 rs6785339 COSM1162699 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.047 0.403 D 0.0 0.026 B 0.0 0.013 B 0.969 0.082 N 1 0.090 P 0 0.065 N 1.88 0.307 T -0.05 0.078 N 0.058 0.052 -1.019 0.239 T 0.000 0.000 T . . . -0.185 0.077 1.179 0.598 0.061 0.011 0.041 N c -1.249 -1.185 0.995 0.340 0.497 0.185 0 3.1 0.346 0.542 0.228 -0.592 0.044 0.141 0.233 0.000 0.016 3.407 0.069 . ENSG00000163959.5|ENSG00000163959.5|ENSG00000163959.5|ENSG00000161217.7|ENSG00000163959.5|ENSG00000163959.5|ENSG00000235897.1|ENSG00000163959.5|ENSG00000145107.11|ENSG00000163959.5|ENSG00000163959.5 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.6189 0.4692 0.6405 0.6030 0.9042 0.5472 0.5880 0.5927 0.6830 0.5638 0.4783 0.6134 0.6159 0.9120 0.5464 0.5747 0.5850 hom 3291.78 99 3 196054439 . T G 3291.78 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5049;MQ=58.47;MQ0=0;QD=33.25;VQSLOD=8.5284;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:99:99:3291,262,0 3 196199204 196199204 G T exonic RNF168 nonsynonymous SNV RNF168:NM_152617:exon6:c.C1202A:p.P401Q 0.4 0.24 0.48 0.18 0.6 0.6 0.5405 0.2950 0.4015 0.1634 0.6607 0.6192 0.5672 0.6224 0.52 0.31 0.62 0.37 0.56 rs3796129 . . Benign not_specified RCV000456034.1 MedGen CN169374 . . . . . . 0.058 0.377 T 0.8 0.430 P 0.216 0.359 B 0.139 0.184 N 1 0.090 P 2.38 0.688 M 3.18 0.075 T -1.0 0.264 N 0.079 0.071 -1.041 0.169 T 0.000 0.000 T . . . 2.051 0.307 16.54 0.880 0.171 0.295 0.236 N c -0.208 -0.293 0.921 0.266 0.707 0.730 0 4.29 0.502 2.441 0.443 0.998 0.613 0.046 0.210 0.713 0.312 8.591 0.327 . ENSG00000235897.1|ENSG00000163958.9|ENSG00000145107.11 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal 0.5380 0.2869 0.3988 0.6161 0.1642 0.6618 0.6171 0.5695 0.6172 0.5038 0.2989 0.4306 0.6225 0.1776 0.6676 0.6172 0.5706 hom 6844.56 222 3 196199204 . G T 6844.56 Mask AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7219;MQ=59.53;MQ0=0;QD=30.83;VQSLOD=8.8747;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:6844,527,0 3 196281208 196281208 T C exonic WDR53 synonymous SNV WDR53:NM_001345915:exon2:c.A468G:p.P156P,WDR53:NM_001345907:exon3:c.A951G:p.P317P,WDR53:NM_001345911:exon3:c.A474G:p.P158P,WDR53:NM_001345912:exon3:c.A468G:p.P156P,WDR53:NM_001345913:exon3:c.A468G:p.P156P,WDR53:NM_001345914:exon3:c.A468G:p.P156P,WDR53:NM_001345906:exon4:c.A951G:p.P317P,WDR53:NM_001345908:exon4:c.A951G:p.P317P,WDR53:NM_001345909:exon4:c.A951G:p.P317P,WDR53:NM_001345910:exon4:c.A951G:p.P317P,WDR53:NM_182627:exon4:c.A951G:p.P317P 0.32 0.37 0.32 0.059 0.45 0.41 0.4002 0.3743 0.2724 0.0651 0.4035 0.4572 0.3888 0.4505 0.43 0.37 0.45 0.35 0.5 rs9311 COSM3760000 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3942 0.3712 0.2824 0.4944 0.0646 0.3976 0.4562 0.4167 0.4488 0.3923 0.3599 0.3062 0.4735 0.0623 0.3951 0.4502 0.3791 hom 5303.25 186 3 196281208 . T C 5303.25 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=59.43;MQ0=0;QD=28.51;VQSLOD=8.3076;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5302,409,0 3 196304665 196304665 C T exonic FBXO45 synonymous SNV FBXO45:NM_001105573:exon2:c.C660T:p.N220N 0.0004 . . 0.001 . 0.001 0.0002 0 0.0001 0.0001 0 0 0 0.0013 . . . . . rs573601854 COSM460822 1(cervix) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0 6.097e-05 0 0 0 0 0 0.0012 . . . . . . . . het 286.81 32 3 196304665 . C T 286.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.149;DP=32;Dels=0.00;FS=1.573;HRun=0;HaplotypeScore=0.7887;MQ=58.69;MQ0=0;MQRankSum=-0.269;QD=8.96;ReadPosRankSum=-0.077;VQSLOD=4.3445;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,13:32:99:317,0,457 3 196386964 196386964 C G exonic NRROS synonymous SNV NRROS:NM_198565:exon3:c.C450G:p.A150A 0.81 0.68 0.86 0.93 0.76 0.85 0.7869 0.6931 0.8704 0.9451 0.6769 0.7644 0.7950 0.8361 0.74 0.7 0.76 0.78 0.7 rs1798631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7880 0.6845 0.8663 0.8412 0.9414 0.6793 0.7586 0.7899 0.8333 0.7412 0.6882 0.8317 0.8758 0.9449 0.6771 0.7563 0.7572 het 626.42 58 3 196386964 . C G 626.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.478;DP=58;Dels=0.00;FS=1.022;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.630;QD=10.80;ReadPosRankSum=0.973;VQSLOD=5.5306;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,28:58:99:656,0,923 3 196388023 196388023 C G exonic NRROS synonymous SNV NRROS:NM_198565:exon3:c.C1509G:p.L503L 0.0054 0.0015 0.011 . 0.016 0.001 0.0137 0.0044 0.0111 0 0.0136 0.0201 0.0177 0.0022 0.017 0.0059 0.022 . . rs62636585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0139 0.0041 0.0107 0.0420 0 0.0112 0.0196 0.0140 0.0025 0.0136 0.0038 0.0107 0.0364 0 0.0095 0.0212 0.0184 het 2563.16 180 3 196388023 . C G 2563.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.427;DP=180;Dels=0.00;FS=6.435;HRun=1;HaplotypeScore=6.3394;MQ=59.41;MQ0=0;MQRankSum=1.081;QD=14.24;ReadPosRankSum=0.835;VQSLOD=3.9280;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,85:180:99:2593,0,2296 3 196435534 196435534 T C exonic CEP19 nonsynonymous SNV CEP19:NM_032898:exon2:c.A7G:p.M3V 0.44 0.43 0.32 0.6 0.35 0.46 0.3851 0.4088 0.2904 0.6156 0.3823 0.3506 0.3544 0.4593 0.37 0.4 0.35 0.47 0.3 rs6776064 COSM3945351 1(lung) . . . . . . . . . . . 1.0 0.010 T . . . . . . . . . 1 0.090 P . . . . . . -0.44 0.146 N 0.002 0.000 -0.935 0.434 T 0.000 0.000 T . . . -2.125 0.006 0.001 0.691 0.086 0.016 0.052 N c -0.744 -0.822 1.000 0.747 0.615 0.372 0 2.89 0.326 -0.237 0.089 0.067 0.174 0.000 0.063 0.110 0.193 7.318 0.255 . ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000163964.9|ENSG00000163964.9|ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7|ENSG00000174007.7|ENSG00000163964.9|ENSG00000174007.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Putamen_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.3802 0.4082 0.2952 0.2979 0.6210 0.3747 0.3519 0.3577 0.4610 0.3897 0.4117 0.3115 0.2881 0.6219 0.3860 0.3587 0.3990 het 688.42 46 3 196435534 . T C 688.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.000;DP=46;Dels=0.00;FS=1.232;HRun=0;HaplotypeScore=0.9973;MQ=59.50;MQ0=0;MQRankSum=1.100;QD=14.97;ReadPosRankSum=-1.170;VQSLOD=6.3976;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,28:46:99:718,0,498 3 196460680 196460680 C T exonic PIGX synonymous SNV PIGX:NM_017861:exon6:c.C684T:p.T228T,PIGX:NM_001166304:exon7:c.C738T:p.T246T 0.13 0.12 0.16 0.001 0.23 0.15 0.1792 0.1473 0.1101 0.0007 0.1582 0.2242 0.1784 0.1675 0.2 0.16 0.22 0.16 0.17 rs34830136 COSM3760002;COSM3760003 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1783 0.1473 0.1184 0.3076 0.0006 0.1615 0.2217 0.1995 0.1682 0.1731 0.1500 0.1420 0.3344 0.0006 0.1580 0.2080 0.1605 het 2590.33 148 3 196460680 . C T 2590.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.133;DP=148;Dels=0.00;FS=6.527;HRun=1;HaplotypeScore=3.3649;MQ=59.30;MQ0=0;MQRankSum=0.470;QD=17.50;ReadPosRankSum=0.059;VQSLOD=4.3437;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,89:148:99:2620,0,1604 3 196613075 196613075 C T exonic SENP5 synonymous SNV SENP5:NM_001308045:exon2:c.C1023T:p.D341D,SENP5:NM_152699:exon2:c.C1023T:p.D341D 0.24 0.36 0.12 0.17 0.23 0.23 0.2068 0.3381 0.1041 0.1312 0.1526 0.2180 0.1777 0.2132 0.25 0.33 0.21 0.25 0.2 rs34533379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2001 0.3427 0.1155 0.2095 0.1300 0.1511 0.2234 0.2026 0.2081 0.2378 0.3407 0.1591 0.2185 0.1377 0.1470 0.2170 0.2020 het 1510.77 119 3 196613075 . C T 1510.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.605;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9457;MQ=58.96;MQ0=0;MQRankSum=0.218;QD=12.70;ReadPosRankSum=0.127;VQSLOD=6.2646;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1541,0,1527 3 196674259 196674259 G A exonic PIGZ synonymous SNV PIGZ:NM_025163:exon3:c.C1509T:p.T503T 0.11 0.015 0.088 0.069 0.15 0.23 0.1374 0.0377 0.0715 0.0543 0.1239 0.1573 0.1222 0.2155 0.12 0.042 0.16 0.098 0.066 rs61179255 COSM4407024 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1361 0.0358 0.0748 0.1672 0.0560 0.1209 0.1591 0.1334 0.2160 0.1132 0.0395 0.0931 0.1556 0.0630 0.1244 0.1578 0.1350 het 1017.59 107 3 196674259 . G A 1017.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.784;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6722;MQ=59.83;MQ0=0;MQRankSum=-0.378;QD=9.51;ReadPosRankSum=-1.820;VQSLOD=4.7606;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,43:107:99:1048,0,1854 3 196674749 196674749 C T exonic PIGZ nonsynonymous SNV PIGZ:NM_025163:exon3:c.G1019A:p.R340Q 0.63 0.68 0.57 0.77 0.6 0.5 0.5911 0.6575 0.4919 0.8062 0.6238 0.5962 0.5878 0.4728 0.61 0.65 0.58 0.61 0.43 rs4916589 COSM4157932 1(pancreas);1(thyroid) . . . . . . . . . . . 0.505 0.076 T 0.0 0.026 B 0.0 0.013 B 0.103 0.198 N 1.000 0.090 P -1.845 0.003 N 0.04 0.621 T 0.72 0.021 N 0.046 0.026 -0.954 0.403 T 0.000 0.000 T . . . 0.654 0.156 8.523 0.629 0.069 0.086 0.143 N c -1.039 -0.826 1.000 0.747 0.660 0.495 0 3.4 0.379 1.384 0.338 0.154 0.240 0.999 0.424 0.064 0.173 1.287 0.019 . ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5902 0.6645 0.5119 0.6841 0.8056 0.6152 0.5890 0.5955 0.4733 0.6288 0.6637 0.5477 0.6391 0.8009 0.6072 0.6008 0.6033 hom 2844.48 81 3 196674749 . C T 2844.48 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=58.76;MQ0=0;QD=35.12;VQSLOD=9.2045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:81:99:2877,226,0 3 196674879 196674879 A G exonic PIGZ synonymous SNV PIGZ:NM_025163:exon3:c.T889C:p.L297L 0.59 0.6 0.61 0.76 0.49 0.51 0.5381 0.5777 0.6838 0.7973 0.5781 0.4755 0.5507 0.5047 0.49 0.57 0.45 0.59 0.49 rs12636891 COSM5618978;COSM4157933 2(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5419 0.5772 0.6790 0.5563 0.7995 0.5723 0.4619 0.5241 0.4918 0.5458 0.5790 0.6695 0.5232 0.8103 0.5702 0.4862 0.5369 het 2356.49 212 3 196674879 . A G 2356.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.003;DP=212;Dels=0.00;FS=12.746;HRun=1;HaplotypeScore=7.9539;MQ=58.53;MQ0=0;MQRankSum=-0.387;QD=11.12;ReadPosRankSum=-0.593;VQSLOD=2.8791;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,92:212:99:2386,0,3242 3 196674916 196674916 A C exonic PIGZ synonymous SNV PIGZ:NM_025163:exon3:c.T852G:p.A284A 0.58 0.67 0.46 0.77 0.4 0.53 0.4596 0.6265 0.5078 0.8003 0.3119 0.3800 0.4862 0.5292 0.46 0.62 0.38 0.54 0.48 rs1147240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4578 0.6259 0.5034 0.5089 0.8000 0.3136 0.3756 0.4393 0.5129 0.4575 0.6255 0.5060 0.4768 0.8066 0.3124 0.3580 0.3845 het 1763.91 184 3 196674916 . A C 1763.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.426;DP=184;Dels=0.00;FS=6.919;HRun=0;HaplotypeScore=1.8737;MQ=58.46;MQ0=0;MQRankSum=0.571;QD=9.59;ReadPosRankSum=0.653;VQSLOD=4.9081;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:103,81:184:99:1794,0,2902 3 196674972 196674972 C T exonic PIGZ nonsynonymous SNV PIGZ:NM_025163:exon3:c.G796A:p.A266T 0.81 0.86 0.82 0.93 0.77 0.62 0.7699 0.8430 0.8457 0.9465 0.8102 0.7440 0.7956 0.6421 0.58 0.69 0.52 0.011 0.69 rs574365 . . . . . . . . . . . . . 0.323 0.134 T 0.001 0.067 B 0.003 0.080 B 0.627 0.107 N 1 0.090 P 0.93 0.236 L -0.06 0.636 T -0.34 0.127 N 0.031 0.012 -0.972 0.368 T 0.000 0.000 T . . . -0.464 0.058 0.270 0.842 0.147 0.052 0.109 N c -0.955 -0.955 1.000 0.489 0.660 0.495 0 1.91 0.247 0.036 0.136 0.007 0.138 0.001 0.137 0.002 0.062 7.294 0.254 . ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000119227.3|ENSG00000270170.1|ENSG00000114503.6|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000270170.1|ENSG00000119227.3|ENSG00000270170.1|ENSG00000114503.6|ENSG00000270170.1|ENSG00000270170.1 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.7715 0.8464 0.8488 0.8572 0.9491 0.7992 0.7323 0.7835 0.6325 0.7918 0.8466 0.8385 0.8367 0.9542 0.8022 0.7371 0.7746 hom 2897.28 89 3 196674972 . C T 2897.28 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;QD=32.55;VQSLOD=8.7565;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2930,250,0 3 196674973 196674973 T C exonic PIGZ synonymous SNV PIGZ:NM_025163:exon3:c.A795G:p.A265A 0.82 0.94 0.83 0.89 0.77 0.62 0.7716 0.9021 0.8472 0.9148 0.7948 0.7434 0.7877 0.6421 0.62 0.8 0.53 0.043 0.68 rs573708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7721 0.9075 0.8510 0.8574 0.9199 0.7861 0.7320 0.7820 0.6317 0.8048 0.9088 0.8445 0.8367 0.9251 0.7854 0.7350 0.7654 hom 2698.57 86 3 196674973 . T C 2698.57 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;QD=31.38;VQSLOD=8.4916;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2732,247,0 3 196742290 196742290 T C exonic MELTF synonymous SNV MELTF:NM_005929:exon9:c.A1179G:p.P393P 0.28 0.4 0.19 0.28 0.22 0.23 0.3478 0.4591 0.3413 0.4230 0.3851 0.3474 0.3571 0.2547 0.27 0.37 0.22 0.25 0.2 rs9855410 COSM3760005 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2341 0.3825 0.1881 0.3214 0.2880 0.2243 0.2187 0.2499 0.2186 0.2645 0.3704 0.2196 0.3113 0.3010 0.2230 0.2133 0.2184 het 296.40 19 3 196742290 . T C 296.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.289;DP=19;Dels=0.00;FS=2.772;HRun=1;HaplotypeScore=1.6584;MQ=60.00;MQ0=0;MQRankSum=0.372;QD=15.60;ReadPosRankSum=0.289;VQSLOD=6.4574;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,11:19:99:326,0,172 3 196743130 196743130 T C exonic MELTF synonymous SNV MELTF:NM_005929:exon8:c.A1011G:p.T337T 0.32 0.47 0.2 0.3 0.25 0.29 0.2671 0.4508 0.1754 0.3026 0.2939 0.2460 0.2864 0.2707 0.3 0.44 0.23 0.28 0.25 rs6779362 COSM1131492 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2576 0.4507 0.1863 0.3199 0.2917 0.2856 0.2331 0.2662 0.2676 0.3015 0.4399 0.2303 0.3046 0.3056 0.2910 0.2299 0.2571 het 1737.96 121 3 196743130 . T C 1737.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.466;DP=121;Dels=0.00;FS=8.030;HRun=0;HaplotypeScore=1.4725;MQ=59.85;MQ0=0;MQRankSum=-0.755;QD=14.36;ReadPosRankSum=-1.253;VQSLOD=4.4130;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,58:121:99:1768,0,1673 3 196746629 196746629 T C exonic MELTF synonymous SNV MELTF:NM_033316:exon7:c.A756G:p.E252E 0.27 0.28 0.34 0.28 0.23 0.21 0.2515 0.2778 0.3930 0.2940 0.2305 0.2287 0.2621 0.2139 0.24 0.27 0.22 0.23 0.25 rs1056664 COSM3760006 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2568 0.2761 0.3889 0.2948 0.2876 0.2260 0.2223 0.2663 0.2163 0.2424 0.2708 0.3911 0.2881 0.2923 0.2212 0.2175 0.2234 het 1775.64 110 3 196746629 . T C 1775.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.824;DP=110;Dels=0.00;FS=2.707;HRun=1;HaplotypeScore=5.8341;MQ=59.24;MQ0=0;MQRankSum=0.997;QD=16.14;ReadPosRankSum=1.703;VQSLOD=4.4605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,62:110:99:1806,0,1285 3 196807928 196807928 A C exonic DLG1 nonsynonymous SNV DLG1:NM_001204387:exon13:c.T1650G:p.D550E,DLG1:NM_001204388:exon13:c.T1650G:p.D550E,DLG1:NM_001204386:exon17:c.T1899G:p.D633E,DLG1:NM_001098424:exon18:c.T1998G:p.D666E,DLG1:NM_001290983:exon18:c.T1998G:p.D666E,DLG1:NM_004087:exon18:c.T1998G:p.D666E 0.0056 . 0.011 . 0.02 . 0.0073 0.0022 0.0068 0 0.0056 0.0109 0.0056 0.0009 0.01 0.0034 0.013 . . rs35430440 . . . . . . . . . . . . . 0.194 0.313 T 0.002 0.112 B 0.02 0.179 B 0.002 0.380 N 0.975 0.402 D -0.57 0.023 N -1.6 0.822 D -1.17 0.299 N 0.025 0.010 -0.903 0.477 T 0.118 0.415 T . . . 1.923 0.292 15.73 0.978 0.354 0.568 0.299 D c -0.698 -0.497 0.129 0.171 0.732 0.924 0 2.47 0.290 0.146 0.159 0.157 0.243 0.976 0.346 0.999 0.750 4.871 0.129 PDZ domain;SH3 domain . . 0.0074 0.0016 0.0072 0.0030 0 0.0046 0.0119 0.0095 0.0009 0.0065 0.0018 0.0072 0.0066 0 0.0040 0.0103 0.0072 het 741.27 55 3 196807928 . A C 741.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.707;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=-0.416;QD=13.48;ReadPosRankSum=-1.163;VQSLOD=5.7736;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,31:55:99:771,0,554 3 197241286 197241286 G C exonic BDH1 synonymous SNV BDH1:NM_004051:exon6:c.C411G:p.G137G,BDH1:NM_203315:exon6:c.C411G:p.G137G,BDH1:NM_203314:exon7:c.C411G:p.G137G 0.078 0.17 0.063 0.001 0.066 0.058 0.0617 0.1506 0.0371 0.0015 0.0481 0.0580 0.0704 0.0780 0.091 0.14 0.065 0.12 0.074 rs35089738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0581 0.1458 0.0362 0.0697 0.0014 0.0450 0.0611 0.0576 0.0651 0.0746 0.1444 0.0513 0.1060 0 0.0401 0.0530 0.0419 het 2845.92 206 3 197241286 . G C 2845.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.272;DP=206;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.3809;MQ=59.30;MQ0=0;MQRankSum=-2.361;QD=13.82;ReadPosRankSum=0.317;VQSLOD=2.7001;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,112:206:99:2876,0,2425 3 197495334 197495334 G A exonic FYTTD1 nonsynonymous SNV FYTTD1:NM_032288:exon3:c.G260A:p.R87H,FYTTD1:NM_001011537:exon4:c.G182A:p.R61H 0.75 0.44 0.82 0.94 0.85 0.84 0.8182 0.4636 0.8556 0.9440 0.8506 0.8391 0.8491 0.8503 0.72 0.46 0.84 0.66 0.82 rs3205525 COSM3760017 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.122 0.335 T 0.059 0.226 B 0.013 0.184 B 0.003 0.357 N 0.643 0.588 P 1.845 0.488 L 0.44 0.566 T -2.75 0.640 D 0.421 0.478 -1.045 0.158 T 0.000 0.000 T . . . 3.357 0.462 22.9 0.990 0.505 0.850 0.438 D c -0.302 -0.164 0.000 0.068 0.707 0.730 0 2.88 0.325 2.535 0.451 0.949 0.536 1.000 0.715 0.999 0.750 8.403 0.316 . . . 0.8253 0.4560 0.8451 0.8099 0.9447 0.8474 0.8407 0.8279 0.8530 0.7379 0.4556 0.8341 0.8278 0.9438 0.8516 0.8390 0.8408 hom 4157.48 140 3 197495334 . G A 4157.48 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=29.70;VQSLOD=9.2791;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4157,322,0 3 197566254 197566254 T C exonic LRCH3 synonymous SNV LRCH3:NM_032773:exon10:c.T1314C:p.Y438Y 0.32 0.24 0.43 0.37 0.33 0.28 0.3648 0.2404 0.5212 0.3854 0.3981 0.3635 0.4198 0.3105 0.32 0.25 0.36 0.34 0.2 rs17850206 COSM3760020;COSM3760019;COSM3760018 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3585 0.2323 0.4741 0.3073 0.3684 0.3951 0.3580 0.3607 0.2988 0.3420 0.2418 0.4880 0.3113 0.3489 0.3886 0.3780 0.3904 het 684.59 62 3 197566254 . T C 684.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.218;DP=62;Dels=0.00;FS=0.979;HRun=0;HaplotypeScore=0.7340;MQ=58.03;MQ0=0;MQRankSum=0.949;QD=11.04;ReadPosRankSum=0.207;VQSLOD=5.4785;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,26:62:99:715,0,838 3 197579466 197579466 C T exonic LRCH3 nonsynonymous SNV LRCH3:NM_032773:exon13:c.C1565T:p.P522L 0.11 0.12 0.045 0.18 0.075 0.086 0.0764 0.1023 0.0327 0.1688 0.0470 0.0721 0.0639 0.0719 0.085 0.11 0.074 0.054 0.098 rs36078463 . . . . . . . . . . . . . 0.1 0.784 T 0.006 0.144 B 0.004 0.162 B 0.015 0.283 N 1 0.090 P 1.445 0.365 L 2.13 0.433 T -1.81 0.651 N 0.148 0.175 -1.080 0.074 T 0.000 0.001 T . . . 0.347 0.127 6.137 0.560 0.053 0.066 0.125 N c -0.840 -0.820 0.871 0.254 0.706 0.609 0 2.74 0.312 0.596 0.236 0.071 0.179 0.000 0.063 0.000 0.016 3.888 0.085 . . . 0.0739 0.1046 0.0375 0.0475 0.1699 0.0450 0.0747 0.0736 0.0711 0.0805 0.1053 0.0431 0.0530 0.1821 0.0461 0.0674 0.0560 het 2397.20 219 3 197579466 . C T 2397.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.254;DP=219;DS;Dels=0.00;FS=0.508;HRun=0;HaplotypeScore=10.5444;MQ=59.24;MQ0=0;MQRankSum=0.316;QD=10.95;ReadPosRankSum=-0.715;VQSLOD=3.7875;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,98:219:99:2427,0,3051 3 197701913 197701913 G T exonic LMLN nonsynonymous SNV LMLN:NM_001136049:exon3:c.G318T:p.E106D,LMLN:NM_033029:exon3:c.G318T:p.E106D 0.21 0.52 0.1 0.011 0.12 0.17 0.1350 0.4655 0.0591 0.0089 0.1588 0.1103 0.1217 0.1402 0.22 0.45 0.11 0.24 0.098 rs7373165 . . . . . . . . . . . . . 0.214 0.215 T 0.001 0.090 B 0.012 0.149 B 0.008 0.311 N 0.987 0.245 P -0.235 0.039 N 0.96 0.429 T -1.13 0.320 N 0.116 0.127 -0.910 0.469 T 0.000 0.000 T . . . 2.303 0.338 18.19 0.988 0.468 0.702 0.342 D c -0.330 -0.164 0.001 0.080 0.615 0.372 0 3.56 0.397 0.884 0.277 -0.363 0.068 1.000 0.715 0.994 0.587 8.178 0.303 . ENSG00000114473.9|ENSG00000114473.9 Artery_Tibial|Whole_Blood 0.1243 0.4656 0.0617 0.1224 0.0096 0.1559 0.1054 0.1142 0.1365 0.2100 0.4619 0.0861 0.1258 0.0123 0.1593 0.1115 0.1173 het 1125.60 126 3 197701913 . G T 1125.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.030;DP=126;Dels=0.00;FS=0.680;HRun=2;HaplotypeScore=0.9894;MQ=58.66;MQ0=0;MQRankSum=-0.363;QD=8.93;ReadPosRankSum=0.502;VQSLOD=5.6550;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,51:126:99:1156,0,1855 3 197712759 197712759 T C exonic LMLN synonymous SNV LMLN:NM_001136049:exon8:c.T927C:p.Y309Y,LMLN:NM_033029:exon8:c.T927C:p.Y309Y 0.21 0.52 0.1 0.011 0.12 0.17 0.1383 0.4660 0.0603 0.0091 0.1593 0.1134 0.1253 0.1443 0.23 0.45 0.11 0.24 0.12 rs7373242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1269 0.4717 0.0646 0.1230 0.0097 0.1566 0.1070 0.1168 0.1424 0.2102 0.4622 0.0859 0.1258 0.0130 0.1592 0.1118 0.1171 het 749.26 73 3 197712759 . T C 749.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.242;DP=73;Dels=0.00;FS=2.057;HRun=0;HaplotypeScore=1.9937;MQ=57.99;MQ0=0;MQRankSum=-1.216;QD=10.26;ReadPosRankSum=-0.443;VQSLOD=4.7150;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,30:73:99:779,0,1071 4 85995 85995 - A exonic ZNF595 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9964 1 1 0.9933 1 0.9981 0.9909 0.9899 0.99 1. 0.99 . . rs61336127 COSN20099643;COSN20099647;COSN20099645;COSN15648740;COSN15648729;COSN15648735;COSN20099646;COSN15648728;COSN15648742;COSN15648721;COSN15648722;COSN15648727;COSN15648736;COSN15648738;COSN15648741;COSN20099644;COSN15648737;COSN15648726;COSN15648734;COSN15648733;COSN15648731;COSN15648732;COSN15648730;COSN15648723;COSN20099642;COSN15648725;COSN15648739;COSN15648724 22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9916 0.9929 0.9885 0.9856 0.9931 0.9959 0.9943 0.9860 0.9846 0.9978 0.9983 0.9988 0.9959 0.9969 0.9983 0.9974 0.9978 hom 1168.08 30 4 85995 . C CA 1168.08 Mask AC=2;AF=1.00;AN=2;DP=30;FS=0.000;HRun=2;HaplotypeScore=313.2998;MQ=41.25;MQ0=0;QD=36.50;set=variant2 GT:AD:DP:GQ:PL 1/1:3,29:30:84.28:1210,84,0 4 86016 86016 - C exonic ZNF595 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . . . rs57253237 COSN20099649;COSN5851283;COSN20099652;COSN20099648;COSN1302257;COSN20099651;COSN20099653;COSN20099650 1(upper_aerodigestive_tract);1(liver);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9731 0.9730 0.9097 0.9595 0.9555 0.9899 0.9868 0.9415 0.9426 0.9975 0.9985 0.9987 0.9909 0.9962 0.9983 0.9970 0.9955 hom 627.64 16 4 86016 . G GC 627.64 Mask AC=2;AF=1.00;AN=2;DP=16;FS=0.000;HRun=1;HaplotypeScore=315.8932;MQ=31.16;MQ0=0;QD=36.92;set=variant2 GT:AD:DP:GQ:PL 1/1:2,15:16:45.15:670,45,0 4 86032 86032 A - exonic ZNF595 unknown UNKNOWN 0.7 0.61 0.71 0.77 0.77 0.69 0.9908 0.9963 1 1 0.9419 0.9953 1 0.9167 . . . . . rs59265003 COSN20099655;COSN20099658;COSN20099654;COSN20099659;COSN20099656;COSN20099657 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9444 0.9687 0.7914 0.9070 0.8796 0.9531 0.9677 0.9 0.9 0.9965 0.9979 0.9987 0.9908 0.9962 0.9971 0.9957 0.9943 hom 384.16 17 4 86031 . CA C 384.16 Mask AC=2;AF=1.00;AN=2;DP=17;FS=0.000;HRun=2;HaplotypeScore=422.8753;MQ=29.00;MQ0=0;QD=22.60;set=variant2 GT:AD:DP:GQ:PL 1/1:5,12:17:36.10:426,36,0 4 86035 86035 C - exonic ZNF595 unknown UNKNOWN . . . . . . 0.9998 1 1 1 1 0.9997 1 1 . . . . . rs57594632 COSN20099663;COSN20099661;COSN20099660;COSN20099662;COSN20099664;COSN20099665 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9492 0.9704 0.8455 0.8673 0.9190 0.9795 0.9727 0.8975 0.8368 0.9965 0.9976 0.9987 0.9907 0.9968 0.9974 0.9956 0.9943 hom 384.25 12 4 86034 . TC T 384.25 Mask AC=2;AF=1.00;AN=2;DP=12;FS=0.000;HRun=2;HaplotypeScore=321.9773;MQ=29.00;MQ0=0;QD=32.02;set=variant2 GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:426,36,0 4 86101 86101 - C exonic ZNF595 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9998 0.9999 0.9999 0.9999 1 0.9998 1 0.9998 1. 1. 1. 0.14 . rs58319295 COSN15648541;COSN15648525;COSN15648531;COSN15648526;COSN20099667;COSN20099666;COSN15648529;COSN15648543;COSN15648538;COSN20099671;COSN15648540;COSN15648532;COSN15648546;COSN15648539;COSN15648536;COSN15648544;COSN15648530;COSN20099669;COSN20099670;COSN15648537;COSN15648534;COSN15648542;COSN15648533;COSN15648528;COSN15648535;COSN20099668;COSN15648545;COSN15648527 22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9983 0.9988 0.9984 0.9988 0.9998 0.9991 0.9979 0.9988 0.9973 0.9977 0.9988 0.9966 0.9956 0.9983 0.9971 0.9969 hom 3567.88 85 4 86101 . G GC 3567.88 Mask AC=2;AF=1.00;AN=2;DP=85;FS=0.000;HRun=1;HaplotypeScore=331.2051;MQ=54.13;MQ0=0;QD=41.98;set=variant2 GT:AD:DP:GQ:PL 1/1:3,82:85:99:3568,244,0 4 86738 86738 A G exonic ZNF595 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9999 0.9999 1 1 1 0.9999 0.9989 0.9999 . . . 1. . rs2353625 COSN15632154 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 0.9999 1 1 1 1 1 0.9996 1 0.9988 1 1 1 0.9994 0.9990 hom 1854.56 58 4 86738 . A G 1854.56 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.657;DP=58;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.4261;MQ=59.20;MQ0=0;MQRankSum=1.673;QD=31.98;ReadPosRankSum=0.538;VQSLOD=6.2409;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,57:58:99:1888,117,0 4 87277 87277 G C exonic ZNF595 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 1.0000 1 0.9990 . . . 1. . rs2006764 COSN15634442;COSN15639541;COSN15640361;COSN15631515;COSN15646128;COSN15636977;COSN15637806;COSN15629845;COSN15645267;COSN15646953;COSN15641980;COSN15644448;COSN15632526;COSN15633551;COSN15630694;COSN15635263;COSN15636088;COSN15628989;COSN15638676;COSN15628166;COSN15643619;COSN15641185;COSN15642769 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 1 1 1 1 1.0000 1 0.9991 0.9999 1 1 1 1 1 0.9999 0.9990 hom 3530.03 114 4 87277 . G C 3530.03 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.92;MQ0=0;QD=30.97;VQSLOD=8.9012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:114:99:3530,268,0 4 87313 87313 - A exonic ZNF595 unknown UNKNOWN . . . . . . 0.9995 0.9955 0.9997 1 1 1.0000 1 0.9992 1. 1. 1. 0.95 . rs60154095 COSN15648404;COSN20099676;COSN15648423;COSN15648416;COSN15648410;COSN15648403;COSN15648413;COSN15648405;COSN20099677;COSN20099674;COSN15648411;COSN15648412;COSN20099675;COSN15648419;COSN15648414;COSN15648418;COSN15648407;COSN15648421;COSN20099673;COSN15648406;COSN15648424;COSN20083828;COSN15648425;COSN15648409;COSN15648408;COSN15648422;COSN15648415;COSN15648417;COSN15648420;COSN20099672 1(skin);23(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9948 0.9997 1 0.9999 1 1.0000 0.9998 0.9994 0.9983 0.9942 0.9988 1 1 1 1 1 hom 3168.54 76 4 87313 . G GA 3168.54 Mask AC=2;AF=1.00;AN=2;DP=76;FS=0.000;HRun=1;HaplotypeScore=329.8838;MQ=59.93;MQ0=0;QD=41.69;set=variant2 GT:AD:DP:GQ:PL 1/1:2,74:76:99:3211,220,0 4 648643 648643 G A exonic PDE6B nonsynonymous SNV PDE6B:NM_001145292:exon4:c.G121A:p.V41I,PDE6B:NM_001350154:exon4:c.G121A:p.V41I,PDE6B:NM_000283:exon6:c.G958A:p.V320I,PDE6B:NM_001145291:exon6:c.G958A:p.V320I 1. 1. 1. 1. 1. 1. 0.9997 0.9972 0.9998 1 1 1 1 1 1. 1. 1. 1. 1. rs10902758 COSM4159133 1(thyroid) Benign not_specified RCV000153663.3 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.023 0.266 N 0.998 0.230 P -1.185 0.009 N -0.09 0.690 T 0.65 0.028 N 0.124 0.381 -0.951 0.408 T 0.000 0.000 T . . . 1.417 0.233 12.88 0.854 0.153 0.034 0.084 N c -0.946 -0.643 0.998 0.359 0.646 0.450 0 4.67 0.579 2.607 0.457 0.244 0.267 0.983 0.354 0.705 0.310 8.824 0.340 GAF domain|GAF domain-like . . 0.9998 0.9973 0.9999 1 1 1 1 1 1 0.9993 0.9974 1 1 1 1 1 1 hom 5563.40 186 4 648643 . G A 5563.40 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7616;MQ=58.67;MQ0=0;QD=29.91;VQSLOD=5.8622;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5563,436,0 4 663908 663908 A G exonic PDE6B nonsynonymous SNV PDE6B:NM_001350155:exon18:c.A1357G:p.M453V,PDE6B:NM_001350154:exon20:c.A1675G:p.M559V 0.55 0.43 0.64 0.46 0.66 0.62 0.6146 0.4456 0.6184 0.4241 0.6767 0.6500 0.6267 0.6494 0.58 0.44 0.65 0.42 0.59 rs28675771 COSN19623065;COSN20280258 2(haematopoietic_and_lymphoid_tissue) Benign|Benign Congenital_Stationary_Night_Blindness\x2c_Dominant|Retinitis_Pigmentosa\x2c_Recessive RCV000279907.1|RCV000407742.1 MedGen|MedGen CN239263|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6168 0.4400 0.6173 0.5379 0.4258 0.6758 0.6571 0.6172 0.6476 0.5941 0.4511 0.6050 0.6093 0.4345 0.6702 0.6712 0.6639 het 2885.75 216 4 663908 . A G 2885.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.388;DP=216;DS;Dels=0.00;FS=0.677;HRun=0;HaplotypeScore=4.0768;MQ=59.89;MQ0=0;MQRankSum=-1.566;QD=13.36;ReadPosRankSum=1.616;VQSLOD=4.7613;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,107:216:99:2916,0,2988 4 843508 843508 C T exonic GAK nonsynonymous SNV GAK:NM_001318134:exon25:c.G3652A:p.D1218N,GAK:NM_005255:exon28:c.G3889A:p.D1297N 0.084 0.0053 0.17 0.13 0.12 0.041 0.1282 0.0260 0.2467 0.1451 0.1579 0.1387 0.1002 0.0422 0.094 0.025 0.13 0.076 0.09 rs1134921 . . . . . . . . . . . . . 0.19 0.258 T 0.999 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 0.955 0.240 L 1.56 0.296 T -3.76 0.712 D 0.065 0.114 -1.106 0.034 T 0.001 0.002 T . . . 5.013 0.675 25.1 0.999 0.948 0.946 0.613 D c 0.176 0.194 1.000 0.747 0.707 0.730 0 4.76 0.600 7.375 0.787 0.927 0.437 1.000 0.715 0.297 0.237 15.271 0.733 DnaJ domain ENSG00000145217.9|ENSG00000178950.12|ENSG00000145217.9|ENSG00000145217.9|ENSG00000145217.9|ENSG00000145217.9 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Thyroid 0.1274 0.0234 0.2315 0.0616 0.1397 0.1407 0.1353 0.1194 0.0418 0.1180 0.0268 0.2105 0.0695 0.1506 0.1338 0.1577 0.1493 het 584.13 48 4 843508 . C T 584.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.795;DP=48;Dels=0.00;FS=2.488;HRun=1;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=1.053;QD=12.17;ReadPosRankSum=-0.206;VQSLOD=6.6816;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,25:48:99:614,0,544 4 858941 858941 T C exonic GAK synonymous SNV GAK:NM_001318134:exon20:c.A2898G:p.A966A,GAK:NM_005255:exon23:c.A3135G:p.A1045A 0.98 1. 0.89 1. 0.96 0.99 0.9604 0.9912 0.8694 0.9999 0.9562 0.9603 0.9681 0.9856 0.97 0.99 0.96 0.79 0.86 rs1026738 COSM4159242 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9565 0.9921 0.8744 0.9668 0.9997 0.9597 0.9603 0.9578 0.9846 0.9686 0.9927 0.8783 0.9636 1 0.9628 0.9585 0.9562 hom 1362.13 42 4 858941 . T C 1362.13 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.20;MQ0=0;QD=32.43;VQSLOD=8.3822;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1395,117,0 4 961373 961373 G A exonic DGKQ synonymous SNV DGKQ:NM_001347:exon8:c.C951T:p.V317V 0.4 0.39 0.55 0.34 0.45 0.35 0.4446 0.3901 0.5850 0.3563 0.4783 0.4544 0.4555 0.3734 0.44 0.39 0.46 0.17 0.49 rs1377586 COSM3760842 1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4494 0.3839 0.5811 0.3481 0.3451 0.4849 0.4580 0.4416 0.3734 0.4239 0.3800 0.5506 0.36 0.3468 0.4759 0.4397 0.4264 het 843.42 73 4 961373 . G A 843.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.766;DP=73;Dels=0.00;FS=4.691;HRun=1;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;MQRankSum=1.010;QD=11.55;ReadPosRankSum=0.348;VQSLOD=5.1770;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:873,0,1004 4 994452 994452 C T exonic IDUA synonymous SNV IDUA:NM_000203:exon3:c.C352T:p.L118L 0.16 0.16 0.2 0.15 0.25 0.055 0.1976 0.1929 0.2290 0.1461 0.2414 0.2288 0.1667 0.0656 0.23 0.2 0.24 0.25 0.24 rs3755954 . . Benign|Likely benign not_specified|Mucopolysaccharidosis_type_I RCV000078392.5|RCV000344018.1 MedGen|MedGen CN169374|C0023786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2016 0.1922 0.2276 0.1317 0.1437 0.2439 0.2387 0.1951 0.0690 0.2399 0.1954 0.2208 0.1424 0.1733 0.2474 0.2735 0.2505 hom 2962.42 98 4 994452 . C T 2962.42 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9772;MQ=58.89;MQ0=0;QD=30.23;VQSLOD=8.2015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:2995,232,0 4 1090625 1090625 G A exonic RNF212 synonymous SNV RNF212:NM_001131034:exon3:c.C174T:p.T58T,RNF212:NM_001193318:exon3:c.C174T:p.T58T,RNF212:NM_194439:exon3:c.C174T:p.T58T 0.55 0.3 0.54 0.65 0.65 0.67 0.6353 0.3433 0.5417 0.6091 0.6810 0.6824 0.6630 0.6880 0.57 0.34 0.69 0.49 0.5 rs4045481 COSM3760328;COSM3760327;COSM3760329 1(bone);3(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6386 0.3374 0.5440 0.7180 0.6144 0.6787 0.6820 0.6589 0.6892 0.5926 0.3423 0.5704 0.7152 0.6348 0.6905 0.7040 0.6748 hom 7860.92 216 4 1090625 . G A 7860.92 Mask AC=2;AF=1.00;AN=2;DP=216;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6806;MQ=59.44;MQ0=0;QD=36.39;VQSLOD=7.4230;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:7860,605,0 4 1164277 1164277 C G exonic SPON2 nonsynonymous SNV SPON2:NM_012445:exon5:c.G724C:p.V242L,SPON2:NM_001128325:exon6:c.G724C:p.V242L,SPON2:NM_001199021:exon7:c.G724C:p.V242L 0.55 0.22 0.71 0.68 0.68 0.63 0.6396 0.2691 0.7586 0.7079 0.6568 0.6731 0.6015 0.6138 0.54 0.28 0.67 0.41 0.38 rs2279279 COSM3760349 1(large_intestine) . . . . . . . . . . . 0.172 0.226 T 0.27 0.300 B 0.071 0.265 B 0.001 0.425 D 0.067 0.370 P 2.665 0.782 M 2.99 0.093 T -1.22 0.309 N 0.089 0.106 -1.010 0.271 T 0.000 0.000 T . . . 2.032 0.305 16.42 0.989 0.484 0.959 0.662 D c -0.108 -0.038 1.000 0.747 0.677 0.550 0 3.83 0.431 2.074 0.409 0.053 0.162 0.997 0.399 0.045 0.161 7.163 0.247 . ENSG00000273179.1|ENSG00000178222.8|ENSG00000273179.1|ENSG00000273179.1|ENSG00000273179.1|ENSG00000178222.8|ENSG00000273179.1|ENSG00000273179.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.6532 0.2684 0.7607 0.6304 0.7054 0.6542 0.6777 0.6615 0.6144 0.5704 0.2789 0.7345 0.6358 0.7141 0.6629 0.6858 0.6731 hom 3666.20 102 4 1164277 . C G 3666.20 Mask AC=2;AF=1.00;AN=2;DP=102;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6205;MQ=59.50;MQ0=0;QD=35.94;VQSLOD=8.0316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3666,295,0 4 1165130 1165130 G T exonic SPON2 nonsynonymous SNV SPON2:NM_012445:exon3:c.C365A:p.A122E,SPON2:NM_001128325:exon4:c.C365A:p.A122E,SPON2:NM_001199021:exon5:c.C365A:p.A122E 0.55 0.23 0.71 0.68 0.68 0.63 0.6624 0.3011 0.7690 0.7186 0.6761 0.6849 0.6033 0.6228 0.56 0.31 0.69 0.2 0.51 rs11247975 COSM3760350 2(thyroid);3(large_intestine) . . . . . . . . . . . 0.446 0.091 T 0.009 0.139 B 0.019 0.176 B 0.036 0.245 N 0.998 0.221 P . . . 1.04 0.402 T 0.15 0.053 N 0.027 0.009 -1.020 0.238 T 0.000 0.000 T . . . 0.112 0.104 3.740 0.848 0.150 0.124 0.171 N c -1.533 -1.642 1.000 0.747 0.685 0.552 0 -8.23 0.009 0.214 0.172 -1.223 0.015 0.001 0.137 0.374 0.250 10.976 0.465 Spondin\x2c N-terminal ENSG00000273179.1|ENSG00000178222.8|ENSG00000273179.1|ENSG00000273179.1|ENSG00000273179.1|ENSG00000178222.8|ENSG00000273179.1|ENSG00000273179.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.6570 0.2687 0.7614 0.6302 0.7082 0.6536 0.6793 0.6633 0.6151 0.5701 0.2789 0.7337 0.6358 0.7141 0.6639 0.6851 0.6731 hom 722.95 26 4 1165130 . G T 722.95 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.29;MQ0=0;QD=27.81;VQSLOD=8.4841;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:63.18:756,63,0 4 1165741 1165741 A G exonic SPON2 nonsynonymous SNV SPON2:NM_012445:exon2:c.T119C:p.L40P,SPON2:NM_001128325:exon3:c.T119C:p.L40P,SPON2:NM_001199021:exon4:c.T119C:p.L40P 0.95 0.82 0.98 1. 1. 1. 0.9866 0.8526 0.9914 0.9999 1 0.9992 0.9943 0.9997 0.96 0.87 1. 0.9 0.98 rs922697 COSM4158759 1(thyroid) . . . . . . . . . . . 0.171 0.267 T 0.053 0.211 B 0.058 0.250 B 0.047 0.234 N 0.872 0.282 P 0.345 0.112 N 2.94 0.309 T -1.25 0.316 N 0.025 0.577 -1.034 0.192 T 0.000 0.000 T . . . 0.603 0.152 8.180 0.797 0.124 0.149 0.184 N c -1.177 -1.158 1.000 0.747 0.677 0.550 0 2.0 0.254 1.701 0.372 -0.264 0.087 0.542 0.270 0.069 0.175 10.217 0.422 Spondin\x2c N-terminal . . 0.9889 0.8512 0.9900 0.9974 0.9999 1 0.9992 0.9913 0.9995 0.9597 0.8596 0.9845 0.9934 1 0.9997 0.9995 0.9969 hom 1998.57 65 4 1165741 . A G 1998.57 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=30.75;VQSLOD=9.0521;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2032,162,0 4 1330759 1330759 T C exonic MAEA nonsynonymous SNV MAEA:NM_001297431:exon5:c.T676C:p.W226R 0.61 0.77 0.7 0.53 0.55 0.48 0.5770 0.7543 0.7981 0.5215 0.5948 0.5392 0.5684 0.4851 0.62 0.75 0.56 0.64 0.49 rs1128427 COSM4414908 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.138 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.588 P . . . 0.59 0.540 T -1.17 0.299 N . . -0.970 0.373 T 0.000 0.000 T . . . -0.031 0.091 2.301 0.355 0.022 0.121 0.169 N c -1.734 -1.836 1.000 0.747 0.707 0.730 0 -11.4 0.001 -1.262 0.029 -1.530 0.010 0.004 0.165 0.762 0.325 7.428 0.261 . ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000254094.1|ENSG00000163945.11|ENSG00000196810.4|ENSG00000090316.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.5842 0.7599 0.7884 0.4595 0.5222 0.5813 0.5473 0.5637 0.4881 0.6228 0.7583 0.7691 0.4404 0.5087 0.5831 0.5654 0.5564 hom 4595.08 163 4 1330759 . T C 4595.08 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4082;MQ=58.59;MQ0=0;QD=28.19;VQSLOD=7.4932;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:163:99:4594,370,0 4 1343405 1343405 T C exonic UVSSA synonymous SNV UVSSA:NM_001317934:exon3:c.T192C:p.I64I,UVSSA:NM_001317935:exon3:c.T192C:p.I64I,UVSSA:NM_020894:exon3:c.T192C:p.I64I 0.63 0.85 0.7 0.53 0.54 0.49 0.5806 0.8075 0.8008 0.5114 0.5980 0.5377 0.5689 0.4860 0.64 0.79 0.56 0.66 0.49 rs2276903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5863 0.8133 0.7902 0.4590 0.5118 0.5800 0.5454 0.5641 0.4898 0.6343 0.8063 0.7710 0.4396 0.4907 0.5806 0.5635 0.5543 hom 2195.15 75 4 1343405 . T C 2195.15 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6536;MQ=59.07;MQ0=0;QD=29.27;VQSLOD=8.5271;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2228,187,0 4 1369885 1369885 G A exonic UVSSA synonymous SNV UVSSA:NM_001317934:exon10:c.G1497A:p.A499A,UVSSA:NM_001317935:exon10:c.G1497A:p.A499A,UVSSA:NM_020894:exon10:c.G1497A:p.A499A 0.18 0.037 0.29 0.07 0.38 0.21 0.3676 0.1241 0.3940 0.0796 0.5139 0.4381 0.4078 0.2739 0.28 0.086 0.38 0.15 0.13 rs11724369 COSM5438463 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3158 0.0851 0.3243 0.3361 0.0471 0.4197 0.3863 0.3409 0.2405 0.3021 0.0940 0.3657 0.3179 0.0488 0.4264 0.4140 0.3673 hom 384.85 12 4 1369885 . G A 384.85 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.07;VQSLOD=13.0080;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:418,36,0 4 1374695 1374695 C A exonic UVSSA synonymous SNV UVSSA:NM_001317934:exon12:c.C1780A:p.R594R,UVSSA:NM_001317935:exon12:c.C1780A:p.R594R,UVSSA:NM_020894:exon12:c.C1780A:p.R594R 0.7 0.7 0.78 0.7 0.67 0.68 0.6940 0.7044 0.8499 0.6866 0.7128 0.6673 0.7101 0.6805 0.69 0.71 0.68 0.66 0.57 rs28614045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6994 0.7037 0.8379 0.5922 0.6911 0.7081 0.6725 0.6782 0.6797 0.6956 0.7032 0.8313 0.5833 0.6937 0.7049 0.6846 0.6837 hom 3360.91 103 4 1374695 . C A 3360.91 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8100;MQ=58.71;MQ0=0;QD=32.63;VQSLOD=9.2007;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3361,259,0 4 1374774 1374774 C T exonic UVSSA nonsynonymous SNV UVSSA:NM_001317934:exon12:c.C1859T:p.P620L,UVSSA:NM_001317935:exon12:c.C1859T:p.P620L,UVSSA:NM_020894:exon12:c.C1859T:p.P620L 0.7 0.7 0.78 0.7 0.67 0.66 0.6946 0.7031 0.8514 0.6888 0.7197 0.6702 0.7108 0.6682 0.69 0.71 0.68 0.65 0.28 rs28522910 COSM4422995 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . 0.017 0.512 D 0.67 0.392 P 0.035 0.214 B 0.007 0.318 N 0.002 0.467 P 2.125 0.592 M 1.35 0.471 T -6.15 0.902 D 0.2 0.245 -1.015 0.252 T 0.000 0.000 T . . . 4.114 0.552 23.8 0.994 0.623 0.784 0.384 D c -0.124 -0.179 0.997 0.349 0.660 0.495 0 4.56 0.555 5.301 0.653 0.935 0.490 0.607 0.276 0.008 0.104 14.483 0.670 . ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000196810.4|ENSG00000163945.11|ENSG00000090316.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000163945.11|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000163945.11|ENSG00000163945.11|ENSG00000196810.4|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000145217.9|ENSG00000163945.11|ENSG00000159692.11|ENSG00000273179.1|ENSG00000163945.11|ENSG00000159674.7|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000163945.11|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000163945.11|ENSG00000145217.9|ENSG00000163945.11|ENSG00000163945.11|ENSG00000196810.4|ENSG00000163945.11|ENSG00000196810.4|ENSG00000179979.7|ENSG00000254094.1|ENSG00000163945.11|ENSG00000196810.4|ENSG00000179979.7|ENSG00000163945.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.6982 0.7025 0.8381 0.5927 0.6912 0.7088 0.6732 0.6776 0.6662 0.6950 0.7013 0.8317 0.5833 0.6923 0.7053 0.6846 0.6830 hom 1624.64 47 4 1374774 . C T 1624.64 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=34.57;VQSLOD=9.1248;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1658,135,0 4 1377615 1377615 A G exonic UVSSA synonymous SNV UVSSA:NM_001317934:exon13:c.A1923G:p.S641S,UVSSA:NM_001317935:exon13:c.A1923G:p.S641S,UVSSA:NM_020894:exon13:c.A1923G:p.S641S 0.72 0.72 0.79 0.71 0.71 0.68 0.7195 0.7164 0.8674 0.6932 0.7284 0.7052 0.7339 0.6848 0.72 0.72 0.72 0.66 0.69 rs9996817 COSM447388 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7257 0.7158 0.8579 0.6371 0.6983 0.7249 0.7112 0.7086 0.6861 0.7205 0.7138 0.8481 0.6225 0.7077 0.7226 0.7205 0.7156 hom 4152.77 152 4 1377615 . A G 4152.77 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1628;MQ=58.43;MQ0=0;QD=27.32;VQSLOD=3.4314;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,130:152:99:4039,337,0 4 1388375 1388375 - CA exonic CRIPAK frameshift insertion CRIPAK:NM_175918:exon1:c.76_77insCA:p.C27Hfs*163 0.16 0.2 0.14 0.028 0.23 0.17 0.0001 0.0003 0 0 0 0.0001 0 0.0002 . . . . . rs533172496 COSM1427135 2(breast);1(oesophagus);1(skin);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.08e-05 0 0 0 0 0 2.418e-05 0 0 0.0008 0 0 0 0 0 0.0021 0 het 979.05 228 4 1388375 . T TCA 979.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.100;DP=228;DS;FS=31.531;HRun=0;HaplotypeScore=2131.2808;MQ=52.99;MQ0=0;MQRankSum=0.953;QD=3.92;ReadPosRankSum=-1.056;set=variant2 GT:AD:DP:GQ:PL 0/1:221,29:228:99:1018,0,7096 4 1388504 1388505 CG - exonic CRIPAK frameshift deletion CRIPAK:NM_175918:exon1:c.205_206del:p.R69Cfs*337 0.011 0.017 0.0043 0.002 0.017 0.0092 0.0016 0.0050 0.0004 0.0001 0.0003 0.0019 0 0.0002 . . . . . rs568118449 COSM1427136 1(bone);1(haematopoietic_and_lymphoid_tissue);1(lung);1(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0017 0.0001 0.0004 0 0.0130 0.0020 0.0012 0.0003 0.0012 0.0002 0.0017 0.0047 0 0 0.0022 0 het 775.33 235 4 1388503 . ACG A 775.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.924;DP=235;DS;FS=30.303;HRun=0;HaplotypeScore=1133.5510;MQ=51.77;MQ0=0;MQRankSum=-3.799;QD=3.10;ReadPosRankSum=4.205;set=variant2 GT:AD:DP:GQ:PL 0/1:211,39:235:99:814,0,10213 4 1388622 1388622 - CA exonic CRIPAK frameshift insertion CRIPAK:NM_175918:exon1:c.323_324insCA:p.C110Rfs*80 0.1 0.057 0.14 0.017 0.18 0.14 0.0657 0.0257 0.0463 0.0033 0.1474 0.0881 0.1 0.0509 . . . . . rs540461234 COSM1427139 2(breast);1(NS);1(oesophagus);3(upper_aerodigestive_tract);4(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0192 0.0046 0.0193 0.0069 0.0004 0.0719 0.0236 0.0174 0.0053 0.0220 0.0057 0.0657 0.0379 0.0023 0.0849 0.0265 0.0322 hom 4816.89 134 4 1388622 . T TCA 4816.89 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.137;DP=134;DS;FS=0.000;HRun=0;HaplotypeScore=1157.3005;MQ=33.29;MQ0=14;MQRankSum=1.482;QD=23.05;ReadPosRankSum=-0.118;set=variant2 GT:AD:DP:GQ:PL 1/1:95,84:134:99:4817,218,0 4 1656801 1656801 A C exonic FAM53A synonymous SNV FAM53A:NM_001013622:exon4:c.T786G:p.P262P,FAM53A:NM_001174070:exon4:c.T786G:p.P262P,FAM53A:NM_001297435:exon4:c.T786G:p.P262P 0.23 0.13 0.23 0.061 0.37 0.41 0.3176 0.1606 0.1935 0.0719 0.2982 0.3623 0.3710 0.4503 0.28 0.15 0.34 0.15 0.29 rs62287700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2949 0.1391 0.1765 0.4220 0.0617 0.2847 0.3405 0.3291 0.4306 0.2504 0.1454 0.1854 0.4172 0.0561 0.2930 0.3213 0.2762 het 527.89 45 4 1656801 . A C 527.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.962;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8572;MQ=58.97;MQ0=0;MQRankSum=-1.147;QD=11.73;ReadPosRankSum=-1.487;VQSLOD=5.2795;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:558,0,637 4 1657281 1657281 G A exonic FAM53A synonymous SNV FAM53A:NM_001013622:exon4:c.C306T:p.T102T,FAM53A:NM_001174070:exon4:c.C306T:p.T102T,FAM53A:NM_001297435:exon4:c.C306T:p.T102T 0.22 0.099 0.23 0.059 0.37 0.41 0.3615 0.1786 0.2316 0.0942 0.3489 0.3970 0.4110 0.4990 0.25 0.12 0.31 0.13 0.16 rs79735962 COSM5438355 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2986 0.1237 0.1852 0.4323 0.0646 0.2841 0.3451 0.3331 0.4358 0.2426 0.1239 0.1835 0.4133 0.0543 0.2911 0.3189 0.2715 het 129.11 10 4 1657281 . G A 129.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;MQRankSum=0.103;QD=12.91;ReadPosRankSum=0.470;VQSLOD=6.1243;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:159,0,129 4 1701317 1701317 G A exonic SLBP synonymous SNV SLBP:NM_001306074:exon4:c.C348T:p.Y116Y,SLBP:NM_001306075:exon4:c.C336T:p.Y112Y,SLBP:NM_006527:exon5:c.C453T:p.Y151Y 0.39 0.13 0.37 0.69 0.33 0.51 0.3847 0.1693 0.3703 0.6947 0.4340 0.3478 0.4075 0.4961 0.29 0.18 0.34 0.4 0.38 rs2247341 . . . . . . . Height . .03 20881960 rs2247341 2E-11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3861 0.1638 0.3633 0.3510 0.6892 0.4269 0.3427 0.3923 0.4898 0.3158 0.1670 0.3888 0.3179 0.6872 0.4126 0.3303 0.4016 het 1898.33 151 4 1701317 . G A 1898.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.913;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6980;MQ=58.53;MQ0=0;MQRankSum=0.766;QD=12.57;ReadPosRankSum=-1.567;VQSLOD=5.8330;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,78:151:99:1928,0,1789 4 1729556 1729556 G A exonic TACC3 nonsynonymous SNV TACC3:NM_006342:exon4:c.G427A:p.E143K 0.064 0.012 0.094 0.001 0.16 0.085 0.1231 0.0373 0.0775 0.0006 0.0707 0.1722 0.1140 0.0977 0.14 0.047 0.18 0.022 0.14 rs34205238 COSM5904799 1(skin) . . . . . . . . . . . 0.756 0.035 T 0.017 0.163 B 0.005 0.104 B 0.204 0.033 N 1 0.090 P 0 0.065 N 3.01 0.414 T -0.4 0.140 N 0.036 0.310 -1.074 0.086 T 0.000 0.001 T . . . -0.396 0.062 0.395 0.890 0.179 0.028 0.074 N c -1.351 -1.431 1.000 0.747 0.733 0.969 0 -3.31 0.046 -0.094 0.110 -0.934 0.025 0.000 0.063 0.000 0.016 5.146 0.142 . ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000218422.2|ENSG00000168936.6|ENSG00000013810.14|ENSG00000013810.14|ENSG00000013810.14|ENSG00000218422.2|ENSG00000168936.6|ENSG00000218422.2|ENSG00000218422.2|ENSG00000168936.6|ENSG00000218422.2|ENSG00000168936.6|ENSG00000013810.14|ENSG00000218422.2|ENSG00000013810.14|ENSG00000168936.6|ENSG00000218422.2|ENSG00000168936.6|ENSG00000013810.14|ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000168936.6|ENSG00000218422.2|ENSG00000168936.6|ENSG00000218422.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.1229 0.0341 0.0819 0.2028 0.0006 0.0735 0.1755 0.1316 0.0983 0.1084 0.0356 0.0811 0.1921 0.0018 0.0779 0.1693 0.1082 het 2768.98 190 4 1729556 . G A 2768.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.113;DP=190;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.8888;MQ=59.17;MQ0=0;MQRankSum=-1.568;QD=14.57;ReadPosRankSum=-1.129;VQSLOD=3.2880;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,95:190:99:2799,0,2733 4 1730215 1730215 C G exonic TACC3 synonymous SNV TACC3:NM_006342:exon4:c.C1086G:p.G362G 0.14 0.19 0.12 0.012 0.18 0.16 0.1607 0.1931 0.0920 0.0115 0.0862 0.1934 0.1486 0.1664 0.2 0.2 0.2 0.043 0.16 rs798757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1569 0.1934 0.0981 0.2401 0.0112 0.0913 0.1949 0.1651 0.1666 0.1655 0.1872 0.0981 0.2483 0.0105 0.0975 0.1891 0.1439 het 475.84 58 4 1730215 . C G 475.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.760;DP=58;Dels=0.00;FS=2.373;HRun=2;HaplotypeScore=2.8937;MQ=59.03;MQ0=0;MQRankSum=1.197;QD=8.20;ReadPosRankSum=-0.728;VQSLOD=5.6171;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,21:58:99:506,0,1089 4 1730299 1730299 A G exonic TACC3 synonymous SNV TACC3:NM_006342:exon4:c.A1170G:p.A390A 0.31 0.32 0.32 0.16 0.44 0.29 0.3737 0.3398 0.2974 0.1747 0.3455 0.4386 0.3617 0.3029 0.42 0.35 0.45 0.25 0.29 rs798759 COSM3760483 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3721 0.3364 0.3070 0.3935 0.1800 0.3484 0.4469 0.3797 0.3061 0.3945 0.3414 0.2986 0.4172 0.1828 0.3584 0.4623 0.3850 het 1174.36 113 4 1730299 . A G 1174.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.092;DP=113;Dels=0.00;FS=1.883;HRun=2;HaplotypeScore=3.7150;MQ=60.00;MQ0=0;MQRankSum=0.337;QD=10.39;ReadPosRankSum=-1.351;VQSLOD=5.4539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,52:113:99:1204,0,1651 4 1737502 1737502 C T exonic TACC3 synonymous SNV TACC3:NM_006342:exon8:c.C1689T:p.F563F 0.39 0.13 0.37 0.69 0.34 0.49 0.3891 0.1701 0.3596 0.6978 0.4370 0.3587 0.4056 0.4886 0.29 0.18 0.35 0.4 0.35 rs11248073 COSM5540059 1(breast);1(NS) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3889 0.1629 0.3568 0.3684 0.6888 0.4317 0.3515 0.3938 0.4792 0.3205 0.1658 0.3842 0.3344 0.6852 0.4186 0.3387 0.4088 het 3817.79 230 4 1737502 . C T 3817.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.096;DP=230;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.1624;MQ=58.89;MQ0=0;MQRankSum=1.022;QD=16.60;ReadPosRankSum=0.899;VQSLOD=5.0797;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,126:230:99:3275,0,2347 4 1807894 1807894 G A exonic FGFR3 synonymous SNV FGFR3:NM_022965:exon12:c.G1617A:p.T539T,FGFR3:NM_000142:exon14:c.G1953A:p.T651T,FGFR3:NM_001163213:exon14:c.G1959A:p.T653T 0.96 0.84 0.99 1. 1. 1. 0.9873 0.8619 0.9932 1 1 0.9995 0.9943 0.9999 0.96 0.87 1. 0.97 0.72 rs7688609 . . Benign not_specified RCV000445200.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9901 0.8577 0.9939 1 1 1 0.9996 0.9958 0.9997 0.9604 0.8608 0.9988 1 1 1 0.9997 0.9929 hom 1428.20 41 4 1807894 . G A 1428.20 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=34.83;VQSLOD=9.4451;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1461,117,0 4 1818594 1818594 C T exonic LETM1 synonymous SNV LETM1:NM_012318:exon12:c.G1791A:p.K597K 0.96 0.86 0.99 1. 1. 1. 0.9888 0.8768 0.9960 1 1 0.9997 0.9956 0.9999 0.96 0.88 1. 0.96 1. rs9328763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.8757 0.9957 1 1 1 0.9997 0.9969 0.9997 0.9652 0.8775 1 1 1 1 0.9998 0.9939 hom 3664.19 119 4 1818594 . C T 3664.19 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;QD=30.79;VQSLOD=9.3509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3664,286,0 4 1834666 1834666 T C exonic LETM1 synonymous SNV LETM1:NM_012318:exon6:c.A885G:p.E295E 0.012 0.0015 0.016 0.001 0.036 0.0082 0.0222 0.0063 0.0143 0.0003 0.0139 0.0333 0.0188 0.0081 0.026 0.0079 0.035 . 0.049 rs140729898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0220 0.0061 0.0162 0.0074 5.8e-05 0.0138 0.0361 0.0239 0.0082 0.0197 0.0057 0.0179 0.0066 0 0.0149 0.0319 0.0132 het 1388.27 102 4 1834666 . T C 1388.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.858;DP=102;Dels=0.00;FS=1.892;HRun=0;HaplotypeScore=2.8164;MQ=58.51;MQ0=0;MQRankSum=1.554;QD=13.61;ReadPosRankSum=0.717;VQSLOD=4.1428;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,49:102:99:1418,0,1398 4 1843324 1843324 C T exonic LETM1 nonsynonymous SNV LETM1:NM_012318:exon3:c.G344A:p.R115H 0.02 0.0045 0.037 0.001 0.056 0.013 0.0437 0.0102 0.0270 0.0001 0.0278 0.0648 0.0453 0.0201 0.048 0.013 0.066 0.011 0.057 rs116753949 COSM5001958 1(pancreas) . . . . . . . . . . . 0.549 0.066 T 0.003 0.102 B 0.002 0.063 B 0.086 0.024 N 1 0.090 N -0.345 0.033 N . . . -0.76 0.212 N 0.062 0.047 -1.081 0.070 T 0.007 0.024 T . . . 1.092 0.199 11.17 0.920 0.207 0.080 0.138 N c -0.970 -0.970 0.998 0.370 0.707 0.730 0 2.04 0.257 0.339 0.195 0.935 0.490 0.000 0.063 0.002 0.062 3.648 0.077 . . . 0.0433 0.0102 0.0274 0.0720 0.0001 0.0273 0.0661 0.0496 0.0200 0.0361 0.0097 0.0322 0.0795 0 0.0335 0.0553 0.0348 het 1550.14 132 4 1843324 . C T 1550.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.990;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9479;MQ=58.06;MQ0=1;MQRankSum=1.126;QD=11.74;ReadPosRankSum=-0.245;VQSLOD=4.7486;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,62:132:99:1580,0,1819 4 2200366 2200366 G A exonic POLN nonsynonymous SNV POLN:NM_181808:exon6:c.C793T:p.P265S 0.0002 . 0.0014 . . . 0.0019 0.0005 0.0012 0 0.0003 0.0031 0.0011 0 0.0027 0.0002 0.004 . . rs140869775 . . . . . . . . . . . . . 0.585 0.059 T 0.002 0.090 B 0.001 0.040 B 0.000 0.002 N 1 0.090 N -0.35 0.031 N 3.47 0.052 T -0.44 0.146 N 0.145 0.171 -0.947 0.415 T 0.008 0.029 T 0.002 0.032 T -2.147 0.006 0.001 0.414 0.030 0.006 0.026 N c -1.469 -1.506 0.003 0.097 0.554 0.246 0 -5.09 0.027 -0.069 0.114 0.089 0.194 0.000 0.063 0.000 0.016 8.032 0.295 . . . 0.0019 0.0005 0.0016 0.0064 0 0.0004 0.0030 0.0011 0 0.0016 0.0007 0 0.0099 0 0.0003 0.0025 0 het 2060.64 145 4 2200366 . G A 2060.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DP=145;Dels=0.00;FS=0.676;HRun=0;HaplotypeScore=5.1357;MQ=59.26;MQ0=0;MQRankSum=0.888;QD=14.21;ReadPosRankSum=-1.076;VQSLOD=3.6954;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,78:145:99:2091,0,1668 4 2275835 2275835 G A exonic ZFYVE28 synonymous SNV ZFYVE28:NM_001172656:exon8:c.C2070T:p.F690F,ZFYVE28:NM_001172659:exon9:c.C1950T:p.F650F,ZFYVE28:NM_020972:exon9:c.C2160T:p.F720F 0.36 0.36 0.51 0.12 0.54 0.29 0.4678 0.3605 0.5685 0.1166 0.5749 0.5335 0.4646 0.3416 0.47 0.35 0.54 0.39 0.56 rs2051561 COSM3760552 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4779 0.3563 0.5638 0.5011 0.1174 0.5695 0.5391 0.5069 0.3469 0.4728 0.3611 0.5358 0.4967 0.1094 0.5599 0.5486 0.5390 het 1543.30 125 4 2275835 . G A 1543.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.020;DP=125;Dels=0.00;FS=2.377;HRun=2;HaplotypeScore=2.9830;MQ=59.37;MQ0=0;MQRankSum=-0.865;QD=12.35;ReadPosRankSum=1.618;VQSLOD=5.8578;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,61:125:99:1573,0,1612 4 2306053 2306053 A G exonic ZFYVE28 nonsynonymous SNV ZFYVE28:NM_001172656:exon7:c.T1924C:p.S642P,ZFYVE28:NM_001172659:exon8:c.T1804C:p.S602P,ZFYVE28:NM_020972:exon8:c.T2014C:p.S672P 0.72 0.65 0.76 0.68 0.83 0.72 0.7923 0.6886 0.6859 0.7089 0.8789 0.8399 0.8009 0.7490 0.78 0.69 0.83 0.63 0.7 rs661301 COSM447735 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(thyroid) . . . . . . . . . . . 0.17 0.232 T 0.0 0.026 B 0.0 0.013 B 0.001 0.008 N 1 0.090 P 0.14 0.088 N 0.31 0.586 T -1.62 0.427 N 0.019 0.007 -1.006 0.280 T 0.000 0.000 T . . . -0.286 0.069 0.714 0.903 0.190 0.004 0.020 N c -1.571 -1.675 1.000 0.416 0.554 0.283 0 -6.27 0.018 -1.540 0.023 -1.058 0.020 0.000 0.063 0.000 0.016 2.167 0.036 . . . 0.7858 0.6860 0.6917 0.7781 0.7074 0.8763 0.8382 0.7917 0.7440 0.7892 0.6962 0.7303 0.8079 0.6954 0.8731 0.8354 0.8086 hom 2636.03 79 4 2306053 . A G 2636.03 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9979;MQ=59.47;MQ0=0;QD=33.37;VQSLOD=9.8919;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2669,211,0 4 2306259 2306259 C T exonic ZFYVE28 nonsynonymous SNV ZFYVE28:NM_001172656:exon7:c.G1718A:p.S573N,ZFYVE28:NM_001172659:exon8:c.G1598A:p.S533N,ZFYVE28:NM_020972:exon8:c.G1808A:p.S603N 0.078 0.072 0.1 . 0.12 0.11 0.0935 0.0838 0.0598 0.0004 0.0770 0.1142 0.1030 0.0962 0.097 0.074 0.11 0.098 0.11 rs17768776 COSM3760553 1(large_intestine) . . . . . . . . . . . 0.231 0.186 T 0.231 0.289 B 0.082 0.276 B 0.132 0.028 N 1 0.090 P 0.345 0.112 N 0.33 0.583 T -0.77 0.242 N 0.006 0.006 -1.031 0.200 T 0.002 0.007 T . . . 1.085 0.198 11.14 0.987 0.448 0.028 0.074 N c -0.798 -0.764 0.974 0.295 0.615 0.372 0 3.3 0.368 0.556 0.230 0.892 0.403 0.001 0.137 0.020 0.134 3.866 0.085 . ENSG00000013810.14 Brain_Cortex 0.0896 0.0796 0.0588 0.1056 0.0005 0.0771 0.1134 0.1094 0.0928 0.0866 0.0756 0.0549 0.1291 0 0.0764 0.1054 0.0918 het 674.26 50 4 2306259 . C T 674.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.311;DP=50;Dels=0.00;FS=10.991;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.515;QD=13.49;ReadPosRankSum=-0.379;VQSLOD=4.0675;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:704,0,754 4 2341194 2341194 T C exonic ZFYVE28 synonymous SNV ZFYVE28:NM_001172658:exon3:c.A366G:p.A122A,ZFYVE28:NM_001172656:exon4:c.A507G:p.A169A,ZFYVE28:NM_001172657:exon4:c.A507G:p.A169A,ZFYVE28:NM_001172659:exon4:c.A297G:p.A99A,ZFYVE28:NM_001172660:exon4:c.A297G:p.A99A,ZFYVE28:NM_020972:exon4:c.A507G:p.A169A 0.64 0.69 0.71 0.7 0.58 0.53 0.6036 0.6921 0.7606 0.6842 0.5799 0.5724 0.5867 0.5325 0.61 0.68 0.57 0.72 0.65 rs2071680 COSM4159006 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6041 0.6886 0.7515 0.5294 0.6871 0.5651 0.5721 0.6076 0.5217 0.6210 0.6911 0.7416 0.5533 0.6634 0.5633 0.5847 0.6061 het 569.14 54 4 2341194 . T C 569.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.152;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7900;MQ=60.00;MQ0=0;MQRankSum=-0.245;QD=10.54;ReadPosRankSum=-0.752;VQSLOD=6.1872;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:599,0,873 4 2743999 2743999 A G exonic TNIP2 synonymous SNV TNIP2:NM_001292016:exon5:c.T1026C:p.A342A,TNIP2:NM_001161527:exon6:c.T954C:p.A318A,TNIP2:NM_024309:exon6:c.T1275C:p.A425A 0.79 0.8 0.88 0.61 0.82 0.86 0.8157 0.8047 0.9160 0.5894 0.8135 0.8209 0.8310 0.8699 0.8 0.79 0.81 0.75 0.48 rs232712 COSM1753701 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8103 0.8005 0.9107 0.8011 0.5640 0.8129 0.8157 0.8240 0.8667 0.7915 0.7970 0.9125 0.8278 0.5616 0.7993 0.8018 0.8200 hom 955.74 34 4 2743999 . A G 955.74 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=28.11;VQSLOD=8.1872;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:84.23:989,84,0 4 2744087 2744087 G A exonic TNIP2 nonsynonymous SNV TNIP2:NM_001292016:exon5:c.C938T:p.A313V,TNIP2:NM_001161527:exon6:c.C866T:p.A289V,TNIP2:NM_024309:exon6:c.C1187T:p.A396V 0.34 0.065 0.57 0.39 0.42 0.44 0.4335 0.1346 0.6765 0.3791 0.3768 0.4394 0.4286 0.4760 0.33 0.14 0.43 0.24 0.2 rs2269495 COSM447768 1(liver);1(large_intestine) . . . . . . . . . . . 0.054 0.386 T 0.617 0.379 P 0.173 0.338 B 0.943 0.083 N 1 0.090 P 1.3 0.327 L 1.12 0.387 T -1.76 0.416 N 0.03 0.029 -0.926 0.447 T 0.000 0.000 T . . . 1.048 0.195 10.93 0.998 0.843 0.193 0.204 N c -0.526 -0.648 0.962 0.285 0.707 0.730 0 1.99 0.253 0.797 0.265 0.133 0.217 0.015 0.189 0.087 0.184 12.816 0.569 . ENSG00000125386.10 Thyroid 0.4375 0.1270 0.6719 0.3560 0.3712 0.3753 0.4377 0.4289 0.4551 0.3249 0.1301 0.6298 0.3576 0.3585 0.3735 0.4021 0.3845 hom 1472.01 50 4 2744087 . G A 1472.01 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=29.44;VQSLOD=8.2222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1505,126,0 4 2822467 2822467 G T exonic SH3BP2 synonymous SNV SH3BP2:NM_001122681:exon2:c.G123T:p.L41L,SH3BP2:NM_001145855:exon2:c.G207T:p.L69L,SH3BP2:NM_001145856:exon2:c.G294T:p.L98L,SH3BP2:NM_003023:exon2:c.G123T:p.L41L 0.37 0.11 0.49 0.46 0.43 0.49 0.4514 0.1567 0.6140 0.4645 0.4476 0.4557 0.4770 0.4972 0.35 0.16 0.45 0.34 0.13 rs231402 COSM5829894;COSM5829895;COSM3760563;COSM3760562 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Fibrous_dysplasia_of_jaw RCV000251161.1|RCV000343320.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0008029:118400:ORPHA184:76098004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4536 0.1481 0.6046 0.4051 0.4474 0.4405 0.4480 0.4463 0.4912 0.3608 0.1535 0.5789 0.4106 0.4394 0.4346 0.4370 0.4459 het 1236.29 89 4 2822467 . G T 1236.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.249;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5317;MQ=59.22;MQ0=0;MQRankSum=-1.227;QD=13.89;ReadPosRankSum=-1.210;VQSLOD=5.5732;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,44:89:99:1266,0,1448 4 2826400 2826400 T C exonic SH3BP2 synonymous SNV SH3BP2:NM_001122681:exon4:c.T300C:p.H100H,SH3BP2:NM_001145855:exon4:c.T384C:p.H128H,SH3BP2:NM_001145856:exon4:c.T471C:p.H157H,SH3BP2:NM_003023:exon4:c.T300C:p.H100H 0.79 0.99 0.83 0.55 0.72 0.8 0.7538 0.9549 0.8879 0.5339 0.6852 0.7198 0.7754 0.8108 0.8 0.94 0.72 0.78 0.67 rs3213501 COSM4159019;COSM4408501 1(liver);1(thyroid) Benign|Benign not_specified|Fibrous_dysplasia_of_jaw RCV000242874.1|RCV000349992.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0008029:118400:ORPHA184:76098004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7550 0.9575 0.8872 0.7288 0.5288 0.6800 0.7239 0.7578 0.8114 0.7745 0.9490 0.8780 0.7367 0.5100 0.6675 0.7234 0.7367 het 1031.04 78 4 2826400 . T C 1031.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.294;DP=78;Dels=0.00;FS=3.160;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.105;QD=13.22;ReadPosRankSum=-0.625;VQSLOD=6.5395;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:1061,0,1117 4 2831383 2831383 T G exonic SH3BP2 synonymous SNV SH3BP2:NM_001122681:exon8:c.T750G:p.A250A,SH3BP2:NM_001145855:exon8:c.T834G:p.A278A,SH3BP2:NM_001145856:exon8:c.T921G:p.A307A,SH3BP2:NM_003023:exon8:c.T750G:p.A250A 0.47 0.35 0.52 0.47 0.49 0.55 0.5037 0.3732 0.6418 0.4544 0.4596 0.4948 0.5278 0.5656 0.45 0.37 0.5 0.45 0.35 rs231399 COSM1131132 1(prostate);2(thyroid) Benign|Benign not_specified|Fibrous_dysplasia_of_jaw RCV000246559.1|RCV000386904.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0008029:118400:ORPHA184:76098004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5090 0.3726 0.6408 0.4839 0.4482 0.4591 0.4944 0.5060 0.5642 0.4523 0.3761 0.6211 0.5099 0.4412 0.4534 0.4836 0.5031 het 930.44 81 4 2831383 . T G 930.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.555;DP=81;Dels=0.00;FS=0.859;HRun=1;HaplotypeScore=1.9983;MQ=60.00;MQ0=0;MQRankSum=0.649;QD=11.49;ReadPosRankSum=-0.204;VQSLOD=6.4953;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:960,0,1061 4 2906707 2906707 G T exonic ADD1 nonsynonymous SNV ADD1:NM_001119:exon10:c.G1378T:p.G460W,ADD1:NM_014189:exon10:c.G1378T:p.G460W,ADD1:NM_014190:exon10:c.G1378T:p.G460W,ADD1:NM_176801:exon10:c.G1378T:p.G460W,ADD1:NM_001286645:exon11:c.G1378T:p.G460W 0.21 0.049 0.17 0.45 0.2 0.2 0.2019 0.0796 0.2091 0.4760 0.1869 0.1923 0.2192 0.1744 0.16 0.086 0.2 0.22 0.25 rs4961 COSM3760567;COSM3760566 7(soft_tissue);1(large_intestine) other|drug response Hypertension\x2c_salt-sensitive_essential\x2c_susceptibility_to|furosemide_and_spironolactone_response_-_Efficacy RCV000019936.2|RCV000211330.1 MedGen CN236476 . . . . . . 0.029 0.457 D 0.997 0.899 D 0.972 0.971 D 0.000 0.843 D 0.000 0.588 P 2.14 0.601 M 2.05 0.207 T -1.29 0.513 N 0.627 0.651 -0.946 0.417 T 0.000 0.000 T . . . 6.127 0.845 28.4 0.996 0.755 0.974 0.746 D c 0.460 0.523 1.000 0.747 0.707 0.730 0 5.55 0.832 5.676 0.676 1.048 0.713 1.000 0.715 0.913 0.390 19.496 0.950 . ENSG00000249673.2|ENSG00000249673.2|ENSG00000249673.2|ENSG00000249673.2|ENSG00000109736.10 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Thyroid 0.2027 0.0766 0.2030 0.1473 0.4709 0.1857 0.1949 0.1915 0.1751 0.1700 0.0794 0.2069 0.1556 0.4671 0.1880 0.1845 0.1755 het 1400.29 89 4 2906707 . G T 1400.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.019;DP=89;Dels=0.00;FS=7.137;HRun=0;HaplotypeScore=2.7834;MQ=59.74;MQ0=0;MQRankSum=-1.646;QD=15.73;ReadPosRankSum=0.311;VQSLOD=4.0899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,51:89:99:1430,0,1103 4 2916762 2916762 C G exonic ADD1 nonsynonymous SNV ADD1:NM_001119:exon13:c.C1757G:p.S586C,ADD1:NM_014189:exon13:c.C1850G:p.S617C,ADD1:NM_014190:exon13:c.C1757G:p.S586C,ADD1:NM_176801:exon13:c.C1850G:p.S617C,ADD1:NM_001286645:exon15:c.C1850G:p.S617C 0.24 0.17 0.18 0.45 0.19 0.2 0.2136 0.1797 0.2245 0.4824 0.1974 0.1881 0.2295 0.1902 0.18 0.18 0.18 0.28 0.25 rs4963 COSM3760568;COSM3760569 8(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.053 0.388 T 0.375 0.508 B 0.345 0.521 B 0.355 0.138 N 1 0.090 P 0.895 0.225 L 2.16 0.192 T -0.91 0.251 N 0.051 0.293 -0.888 0.492 T 0.000 0.000 T . . . 3.441 0.472 23.0 0.934 0.225 0.321 0.243 N c -0.401 -0.379 0.994 0.333 0.742 0.982 0 4.6 0.564 1.751 0.377 0.065 0.171 0.028 0.201 0.654 0.299 16.421 0.835 . ENSG00000249673.2|ENSG00000249673.2|ENSG00000249673.2|ENSG00000249673.2|ENSG00000125388.15 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg 0.2028 0.1715 0.2052 0.1669 0.4706 0.1816 0.1807 0.1880 0.1734 0.1870 0.1699 0.2045 0.1788 0.4703 0.1803 0.1682 0.1721 het 561.20 41 4 2916762 . C G 561.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.274;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=0.143;QD=13.69;ReadPosRankSum=1.108;VQSLOD=6.6652;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,21:41:99:591,0,566 4 2951804 2951804 A G exonic NOP14 nonsynonymous SNV NOP14:NM_001291978:exon8:c.T1139C:p.L380S,NOP14:NM_001291979:exon8:c.T1139C:p.L380S,NOP14:NM_003703:exon8:c.T1139C:p.L380S 0.41 0.68 0.41 0.19 0.44 0.22 0.4067 0.6336 0.3887 0.1828 0.5364 0.4294 0.4174 0.2495 0.5 0.63 0.43 0.43 0.44 rs2515960 COSM4415675;COSM4415676 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.377 N 0.988 0.244 P -3.31 0.000 N 1.61 0.284 T 3.94 0.001 N 0.045 0.118 -0.971 0.370 T 0.000 0.000 T . . . 0.800 0.170 9.464 0.778 0.116 0.108 0.160 N c -0.751 -0.465 1.000 0.747 0.672 0.522 0 5.43 0.789 4.034 0.568 0.138 0.222 1.000 0.715 0.247 0.227 13.176 0.589 . ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000251075.1|ENSG00000109736.10|ENSG00000087269.11|ENSG00000125388.15|ENSG00000249673.2|ENSG00000125388.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Ovary|Ovary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4046 0.6373 0.3821 0.4414 0.1803 0.5366 0.4255 0.4180 0.2531 0.4917 0.6339 0.3849 0.3974 0.1772 0.5255 0.4461 0.4459 het 3124.13 246 4 2951804 . A G 3124.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.739;DP=246;DS;Dels=0.00;FS=2.854;HRun=0;HaplotypeScore=8.3016;MQ=59.29;MQ0=0;MQRankSum=0.608;QD=12.70;ReadPosRankSum=-0.381;VQSLOD=4.7759;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,122:246:99:3154,0,3662 4 2990499 2990499 G T exonic GRK4 nonsynonymous SNV GRK4:NM_001004056:exon2:c.G98T:p.R33L,GRK4:NM_005307:exon2:c.G98T:p.R33L,GRK4:NM_001004057:exon3:c.G194T:p.R65L,GRK4:NM_182982:exon3:c.G194T:p.R65L 0.31 0.54 0.33 0.094 0.38 0.16 0.3256 0.4950 0.3092 0.0883 0.4416 0.3572 0.3502 0.1791 0.4 0.49 0.36 0.32 0.34 rs2960306 COSM3760571 1(large_intestine) . . . . . . . . . . . 0.303 0.143 T 0.0 0.026 B 0.0 0.040 B 0.000 0.469 N 1.000 0.210 P -1.995 0.002 N 4.57 0.019 T 3.29 0.001 N 0.05 0.034 -1.046 0.154 T 0.000 0.000 T . . . 3.204 0.444 22.7 0.963 0.286 0.091 0.148 N c -0.756 -0.425 0.100 0.164 0.487 0.133 0 5.56 0.836 3.344 0.516 0.032 0.150 1.000 0.715 0.998 0.697 11.195 0.477 RGS domain ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000251075.1|ENSG00000109736.10|ENSG00000087269.11|ENSG00000125388.15|ENSG00000249673.2|ENSG00000125388.15|ENSG00000125388.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood 0.3228 0.4974 0.3025 0.2912 0.0873 0.4385 0.3587 0.3408 0.1835 0.3936 0.5046 0.3153 0.2682 0.0847 0.4260 0.3645 0.3538 het 1298.72 105 4 2990499 . G T 1298.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.363;DP=105;Dels=0.00;FS=1.606;HRun=1;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=1.529;QD=12.37;ReadPosRankSum=0.516;VQSLOD=5.9974;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,51:105:99:1329,0,1323 4 2993980 2993980 T C exonic GRK4 synonymous SNV GRK4:NM_001004056:exon3:c.T204C:p.D68D,GRK4:NM_005307:exon3:c.T204C:p.D68D,GRK4:NM_001004057:exon4:c.T300C:p.D100D,GRK4:NM_182982:exon4:c.T300C:p.D100D 0.29 0.46 0.33 0.094 0.38 0.15 0.3212 0.4344 0.3061 0.0886 0.4436 0.3590 0.3480 0.1788 0.38 0.43 0.36 0.29 0.29 rs2515941 COSM3760572 1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3195 0.4365 0.2978 0.3207 0.0873 0.4413 0.3583 0.3391 0.1828 0.3767 0.4426 0.3086 0.2881 0.0841 0.4287 0.3652 0.3525 het 1312.58 110 4 2993980 . T C 1312.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.727;DP=110;Dels=0.00;FS=3.561;HRun=0;HaplotypeScore=1.6988;MQ=59.11;MQ0=0;MQRankSum=0.338;QD=11.93;ReadPosRankSum=-0.129;VQSLOD=5.8174;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,52:110:99:1343,0,1262 4 3006043 3006043 C T exonic GRK4 nonsynonymous SNV GRK4:NM_001004056:exon4:c.C329T:p.A110V,GRK4:NM_005307:exon4:c.C329T:p.A110V,GRK4:NM_001004057:exon5:c.C425T:p.A142V,GRK4:NM_182982:exon5:c.C425T:p.A142V 0.37 0.63 0.38 0.19 0.4 0.17 0.3648 0.5962 0.3622 0.1825 0.5227 0.3805 0.3877 0.1886 0.45 0.6 0.38 0.42 0.42 rs1024323 COSM4415254 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.282 0.162 T 0.001 0.067 B 0.002 0.093 B 0.001 0.420 N 1 0.090 P -1.175 0.009 N 4.65 0.018 T 1.94 0.005 N 0.016 0.023 -1.109 0.032 T 0.000 0.000 T . . . 1.402 0.232 12.80 0.948 0.249 0.000 0.003 N c -1.221 -1.119 0.027 0.138 0.554 0.283 0 2.11 0.262 0.544 0.228 0.090 0.195 0.095 0.225 0.229 0.223 7.587 0.270 RGS domain ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000087269.11|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000251075.1|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000251075.1|ENSG00000109736.10|ENSG00000087269.11|ENSG00000125388.15|ENSG00000249673.2|ENSG00000125388.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Ovary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3641 0.5988 0.3565 0.3734 0.1798 0.5244 0.3770 0.3724 0.1912 0.4572 0.5970 0.3597 0.3278 0.1726 0.5109 0.4052 0.4133 het 1678.30 140 4 3006043 . C T 1678.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.115;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9920;MQ=59.00;MQ0=0;MQRankSum=1.036;QD=11.99;ReadPosRankSum=-1.539;VQSLOD=6.0921;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,65:140:99:1708,0,2062 4 3015553 3015553 G A exonic GRK4 nonsynonymous SNV GRK4:NM_001350173:exon6:c.G157A:p.V53I,GRK4:NM_001004056:exon7:c.G643A:p.V215I,GRK4:NM_005307:exon7:c.G643A:p.V215I,GRK4:NM_001004057:exon8:c.G739A:p.V247I,GRK4:NM_182982:exon8:c.G739A:p.V247I 0.043 0.0053 0.058 0.001 0.15 0.014 0.1005 0.0222 0.0433 0.0003 0.2780 0.1353 0.1264 0.0277 0.097 0.029 0.13 0.043 0.15 rs1140085 COSM447778 1(large_intestine) . . . . . . . . . . . 0.605 0.068 T 0.918 0.488 P 0.448 0.467 P 0.000 0.629 U 0.000 0.588 P 0.035 0.081 N 2.27 0.174 T -0.88 0.242 N 0.225 0.308 -0.903 0.477 T 0.000 0.000 T . . . 3.445 0.472 23.0 0.987 0.440 0.945 0.611 D c -0.055 0.055 1.000 0.747 0.516 0.203 0 4.76 0.600 7.867 0.854 0.952 0.539 1.000 0.715 0.793 0.334 16.826 0.857 Protein kinase domain|Protein kinase\x2c ATP binding site|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain;Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15|ENSG00000125388.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.1037 0.0216 0.0419 0.0677 0.0002 0.2737 0.1371 0.1077 0.0274 0.1209 0.0230 0.0538 0.0563 0.0006 0.2605 0.1614 0.1530 het 1420.50 112 4 3015553 . G A 1420.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.354;DP=112;Dels=0.00;FS=7.348;HRun=0;HaplotypeScore=3.9919;MQ=58.54;MQ0=0;MQRankSum=0.127;QD=12.68;ReadPosRankSum=0.923;VQSLOD=4.5937;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1450,0,1322 4 3213832 3213832 G A exonic HTT synonymous SNV HTT:NM_002111:exon48:c.G6591A:p.E2197E 0.24 0.095 0.29 0.35 0.32 0.2 0.2900 0.1418 0.3085 0.3917 0.4373 0.3058 0.3043 0.1885 0.25 0.15 0.3 0.24 0.28 rs362336 COSM3760579 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2952 0.1380 0.2942 0.3002 0.3909 0.4361 0.3022 0.2922 0.1926 0.2882 0.1485 0.2859 0.2848 0.4074 0.4253 0.3230 0.3177 hom 1721.19 59 4 3213832 . G A 1721.19 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.17;VQSLOD=13.6079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1754,147,0 4 3215835 3215835 T C exonic HTT nonsynonymous SNV HTT:NM_002111:exon50:c.T6925C:p.Y2309H 0.44 0.59 0.43 0.39 0.43 0.32 0.4386 0.5870 0.3936 0.4345 0.5515 0.4378 0.4557 0.3317 0.47 0.56 0.42 0.45 0.45 rs362331 COSM447793 1(liver) . . . . . . . . . . . 0.688 0.043 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.214 P -1.465 0.005 N 3.59 0.046 T 1.7 0.006 N 0.215 0.333 -1.024 0.223 T 0.000 0.000 T . . . 1.841 0.282 15.23 0.952 0.257 0.382 0.257 N c -0.606 -0.300 0.994 0.334 0.707 0.730 0 5.7 0.886 3.219 0.507 0.069 0.176 1.000 0.715 0.995 0.604 8.214 0.305 . ENSG00000251075.1|ENSG00000251075.1|ENSG00000188981.6 Nerve_Tibial|Thyroid|Thyroid 0.4294 0.5821 0.3787 0.4953 0.4291 0.5446 0.4236 0.4318 0.3143 0.4909 0.5863 0.3825 0.48 0.4434 0.5363 0.4384 0.4572 hom 1976.70 58 4 3215835 . T C 1976.70 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=34.08;VQSLOD=10.2222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:2010,159,0 4 3219613 3219613 A C exonic HTT synonymous SNV HTT:NM_002111:exon52:c.A7176C:p.L2392L 0.98 0.95 0.99 1. 1. 1. 0.9956 0.9511 0.9968 1 1 0.9997 0.9967 1 0.99 0.96 1. 0.98 1. rs2857790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9525 0.9972 1 1 1 0.9998 0.9976 0.9999 0.9865 0.9531 0.9964 1 1 1 0.9997 0.9969 hom 4433.70 124 4 3219613 . A C 4433.70 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7936;MQ=58.38;MQ0=0;QD=35.76;VQSLOD=8.1915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:4433,364,0 4 3227419 3227419 A G exonic HTT synonymous SNV HTT:NM_002111:exon57:c.A7797G:p.L2599L 0.25 0.12 0.3 0.34 0.32 0.2 0.2939 0.1578 0.3117 0.3779 0.4586 0.3085 0.3114 0.1919 0.25 0.16 0.3 0.2 0.27 rs362273 COSM1429434 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2985 0.1517 0.2982 0.3039 0.3752 0.4576 0.3032 0.2980 0.1951 0.2962 0.1639 0.2895 0.2881 0.4007 0.4429 0.3258 0.3337 hom 1261.56 38 4 3227419 . A G 1261.56 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=33.20;VQSLOD=9.5080;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1295,99,0 4 3234980 3234980 G A exonic HTT nonsynonymous SNV HTT:NM_002111:exon61:c.G8356A:p.V2786I 0.21 0.011 0.29 0.32 0.31 0.21 0.2805 0.0571 0.3047 0.3599 0.4387 0.3040 0.2928 0.1952 0.22 0.067 0.3 0.17 0.26 rs362272 COSM447795 2(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.627 0.052 T 0.002 0.090 B 0.002 0.063 B 0.763 0.096 N 1 0.090 P -0.165 0.043 N -0.16 0.654 T 0.07 0.061 N 0.171 0.207 -1.009 0.272 T 0.000 0.000 T . . . 0.176 0.111 4.423 0.750 0.105 0.283 0.233 N c -1.309 -1.250 0.998 0.370 0.707 0.730 0 -4.25 0.035 1.423 0.342 -1.416 0.012 0.671 0.281 0.003 0.074 12.996 0.579 Armadillo-like helical|Armadillo-type fold ENSG00000251075.1|ENSG00000188981.6 Thyroid|Thyroid 0.2870 0.0529 0.2907 0.2874 0.3597 0.4373 0.3014 0.2804 0.1986 0.2598 0.0575 0.2745 0.2781 0.3820 0.4249 0.3214 0.3111 hom 8224.70 250 4 3234980 . G A 8224.70 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4988;MQ=59.83;MQ0=0;QD=32.90;VQSLOD=7.4036;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8224,662,0 4 3417821 3417821 A G exonic RGS12 synonymous SNV RGS12:NM_198227:exon5:c.A456G:p.P152P,RGS12:NM_002926:exon7:c.A2400G:p.P800P,RGS12:NM_198229:exon7:c.A2400G:p.P800P 0.0006 . 0.0043 . . . 0.0010 0.0006 0.0003 0 0.0003 0.0017 0 0 0.0014 0.0005 0.0019 . . rs146573735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0007 0.0003 0.0001 0 4.487e-05 0.0018 0.0007 0 0.0009 0 0 0.0033 0 0.0003 0.0017 0.0010 het 275.87 44 4 3417821 . A G 275.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.046;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7487;MQ=59.48;MQ0=0;MQRankSum=-1.128;QD=6.27;ReadPosRankSum=0.459;VQSLOD=2.2827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,12:44:99:306,0,894 4 3417845 3417845 G C exonic RGS12 synonymous SNV RGS12:NM_198227:exon5:c.G480C:p.L160L,RGS12:NM_002926:exon7:c.G2424C:p.L808L,RGS12:NM_198229:exon7:c.G2424C:p.L808L 0.38 0.44 0.43 0.49 0.27 0.24 0.3164 0.3991 0.4120 0.4965 0.3357 0.2812 0.2962 0.2374 0.31 0.37 0.28 0.36 0.32 rs3213507 COSM4159031;COSM4159030;COSM4159029;COSM4159032 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3170 0.3956 0.3986 0.2861 0.4929 0.3299 0.2779 0.3072 0.2346 0.3339 0.3878 0.3792 0.2682 0.5106 0.3360 0.2829 0.3190 het 174.35 34 4 3417845 . G C 174.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.850;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=1.152;QD=5.13;ReadPosRankSum=-1.112;VQSLOD=4.4906;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,10:34:99:204,0,720 4 3475252 3475252 T C exonic DOK7 synonymous SNV DOK7:NM_001164673:exon3:c.T220C:p.L74L,DOK7:NM_001301071:exon3:c.T220C:p.L74L,DOK7:NM_173660:exon3:c.T220C:p.L74L 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 . . . 1. 0.98 rs4325970 COSM4595218;COSM4595219 1(upper_aerodigestive_tract) Benign not_specified RCV000177424.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2082.85 68 4 3475252 . T C 2082.85 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=30.63;VQSLOD=8.1147;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2116,169,0 4 3495095 3495095 G A exonic DOK7 nonsynonymous SNV DOK7:NM_001256896:exon4:c.G452A:p.G151D,DOK7:NM_001301071:exon7:c.G1382A:p.G461D,DOK7:NM_173660:exon7:c.G1382A:p.G461D 0.2 0.13 0.25 0.13 0.19 0.32 0.2520 0.1854 0.2611 0.1632 0.2184 0.2416 0.2718 0.3411 0.16 0.12 0.18 0.14 0.082 rs9684786 COSM3760593;COSM3760592 3(large_intestine) Benign not_specified RCV000116891.4 MedGen CN169374 . . . . . . 0.043 0.413 D 0.192 0.406 B 0.066 0.442 B 0.003 0.349 N 1 0.237 P 1.95 0.526 M -0.05 0.634 T -2.61 0.561 D 0.23 0.289 -1.101 0.040 T 0.000 0.000 T . . . 1.283 0.219 12.18 0.995 0.678 0.564 0.299 D c -0.379 -0.446 1.000 0.747 0.598 0.340 0 2.59 0.300 4.101 0.573 1.045 0.669 0.998 0.411 0.131 0.199 11.252 0.481 . ENSG00000163956.6|ENSG00000163956.6|ENSG00000163956.6|ENSG00000261643.1|ENSG00000163956.6|ENSG00000163956.6|ENSG00000261643.1|ENSG00000163956.6|ENSG00000163956.6|ENSG00000261643.1|ENSG00000261643.1 Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.2071 0.1442 0.2107 0.1770 0.1364 0.1562 0.2056 0.1894 0.3166 0.1753 0.1429 0.2189 0.1733 0.1520 0.1470 0.2014 0.1687 het 255.32 17 4 3495095 . G A 255.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.708;DP=17;Dels=0.00;FS=2.062;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.244;QD=15.02;ReadPosRankSum=-1.025;VQSLOD=5.6696;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,10:17:99:285,0,178 4 3769500 3769500 C T exonic ADRA2C synonymous SNV ADRA2C:NM_000683:exon1:c.C1167T:p.G389G 0.19 0.43 0.088 0.14 0.051 0.13 0.0931 0.3928 0.0497 0.1168 0.0137 0.0504 0.1066 0.1331 0.16 0.37 0.055 0.23 . rs7434630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0830 0.3864 0.0482 0.0742 0.1156 0.0117 0.0489 0.0771 0.1316 0.1384 0.3749 0.0526 0.0811 0.1168 0.0121 0.0446 0.0542 het 359.73 28 4 3769500 . C T 359.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.060;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6978;MQ=60.00;MQ0=0;MQRankSum=-0.092;QD=12.85;ReadPosRankSum=1.474;VQSLOD=5.1451;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,15:28:99:390,0,363 4 4199634 4199634 A T exonic OTOP1 nonsynonymous SNV OTOP1:NM_177998:exon5:c.T927A:p.D309E 0.66 0.59 0.56 0.66 0.67 0.83 0.6836 0.6016 0.4748 0.6525 0.6744 0.7021 0.6476 0.8285 0.67 0.6 0.71 0.38 0.7 rs2916414 . . . . . . . . . . . . . 1.0 0.010 T 0.108 0.245 B 0.076 0.269 B 0.040 0.241 N 1.000 0.090 P -0.145 0.044 N 2.05 0.207 T 0.85 0.017 N 0.068 0.055 -1.005 0.285 T 0.000 0.000 T . . . -2.629 0.003 0.001 0.263 0.013 0.043 0.097 N c -1.732 -1.777 0.074 0.157 0.497 0.185 0 -5.33 0.025 -2.054 0.015 -2.669 0.002 0.000 0.063 0.000 0.016 4.277 0.102 . . . 0.6734 0.6008 0.4857 0.6334 0.6512 0.6616 0.7076 0.6510 0.8280 0.6637 0.6070 0.5358 0.6126 0.6675 0.6433 0.7079 0.6833 hom 6729.26 206 4 4199634 . A T 6729.26 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4779;MQ=59.37;MQ0=0;QD=32.67;VQSLOD=8.5776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6729,524,0 4 4199760 4199760 G A exonic OTOP1 synonymous SNV OTOP1:NM_177998:exon5:c.C801T:p.I267I 0.086 0.02 0.1 0.022 0.19 0.12 0.1662 0.0534 0.0737 0.0162 0.2046 0.2265 0.1689 0.1214 0.17 0.062 0.23 0.065 0.19 rs17697262 COSM3760635 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1634 0.0507 0.0813 0.2008 0.0154 0.1986 0.2270 0.1776 0.1218 0.1559 0.0479 0.0919 0.1967 0.0228 0.1918 0.2262 0.1769 het 2321.99 149 4 4199760 . G A 2321.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.752;DP=149;Dels=0.00;FS=4.210;HRun=1;HaplotypeScore=0.9916;MQ=59.31;MQ0=0;MQRankSum=1.331;QD=15.58;ReadPosRankSum=-0.748;VQSLOD=6.0116;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,80:149:99:2352,0,1873 4 4204299 4204299 T C exonic OTOP1 synonymous SNV OTOP1:NM_177998:exon4:c.A606G:p.G202G 0.82 0.96 0.75 0.71 0.72 0.88 0.7838 0.9439 0.7204 0.6859 0.7322 0.7629 0.7329 0.8865 0.83 0.94 0.77 0.86 0.76 rs2920182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7737 0.9441 0.7238 0.7442 0.6881 0.7139 0.7637 0.7438 0.8856 0.8063 0.9411 0.7536 0.7331 0.7052 0.6955 0.7717 0.7643 hom 5434.43 177 4 4204299 . T C 5434.43 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.9874;MQ=51.16;MQ0=1;QD=30.70;VQSLOD=3.2866;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5434,424,0 4 4276132 4276132 T C exonic LYAR nonsynonymous SNV LYAR:NM_001145725:exon7:c.A794G:p.H265R,LYAR:NM_017816:exon7:c.A794G:p.H265R 1. 1. 1. 1. 1. 1. 0.9998 0.9986 0.9999 0.9997 1 1.0000 1 1 1. 1. 1. 1. 0.98 rs7376390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9986 0.9999 1 1 1 1.0000 1 1 0.9996 0.9987 1 1 1 1 0.9999 1 hom 8132.31 249 4 4276132 . T C 8132.31 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4912;MQ=59.29;MQ0=0;QD=32.66;VQSLOD=5.6493;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8131,692,0 4 4304337 4304337 C T exonic ZBTB49 synonymous SNV ZBTB49:NM_001330625:exon3:c.C774T:p.A258A,ZBTB49:NM_145291:exon3:c.C774T:p.A258A 0.8 0.76 0.88 0.76 0.85 0.79 0.8263 0.7763 0.8756 0.7703 0.8886 0.8362 0.8289 0.7871 0.82 0.79 0.83 0.76 0.79 rs2916382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8323 0.7760 0.8777 0.8301 0.7656 0.8955 0.8366 0.8265 0.7890 0.8333 0.7811 0.8837 0.8146 0.7627 0.8952 0.8519 0.8714 hom 5698.81 182 4 4304337 . C T 5698.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.713;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9181;MQ=58.51;MQ0=0;MQRankSum=-0.933;QD=31.31;ReadPosRankSum=0.857;VQSLOD=7.0429;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,181:182:99:5698,430,0 4 4304522 4304522 A C exonic ZBTB49 nonsynonymous SNV ZBTB49:NM_001330625:exon3:c.A959C:p.Y320S,ZBTB49:NM_145291:exon3:c.A959C:p.Y320S 0.2 0.1 0.29 0.25 0.27 0.16 0.2635 0.1566 0.3134 0.2429 0.3197 0.2918 0.2456 0.1707 0.25 0.17 0.29 0.13 0.34 rs2920217 COSM4003086 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.931 0.075 N 1 0.090 P -2.455 0.001 N 3.06 0.087 T 0.45 0.032 N 0.007 0.287 -0.932 0.439 T 0.000 0.000 T . . . -1.702 0.013 0.002 0.461 0.036 0.007 0.029 N c -1.648 -1.574 0.981 0.302 0.563 0.310 0 -2.97 0.052 0.581 0.233 -0.442 0.057 0.039 0.207 0.039 0.156 4.785 0.125 . ENSG00000145220.9|ENSG00000145220.9|ENSG00000168826.11|ENSG00000145220.9|ENSG00000145220.9 Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Spleen 0.2675 0.1505 0.3291 0.1849 0.2378 0.3033 0.2982 0.2558 0.1666 0.2572 0.1539 0.3445 0.1967 0.2256 0.3076 0.3035 0.2862 hom 3020.74 89 4 4304522 . A C 3020.74 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.58;MQ0=0;QD=33.94;VQSLOD=9.5777;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:3054,238,0 4 5570221 5570221 G A exonic EVC2 synonymous SNV EVC2:NM_001166136:exon20:c.C3267T:p.H1089H,EVC2:NM_147127:exon20:c.C3507T:p.H1169H 0.44 0.16 0.37 0.88 0.31 0.56 0.4847 0.2367 0.5547 0.8718 0.4882 0.4184 0.4513 0.5566 0.26 0.17 0.3 0.32 0.2 rs12511039 COSM330193;COSM3760662 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) Benign|Benign not_specified|Ellis-van_Creveld_Syndrome RCV000176126.3|RCV000328377.1 MedGen|MedGen CN169374|CN239258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3906 0.1725 0.4211 0.3036 0.8633 0.3281 0.3113 0.3601 0.5282 0.3037 0.1803 0.3945 0.3113 0.8594 0.3274 0.3021 0.3405 het 268.94 16 4 5570221 . G A 268.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.115;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=0.163;QD=16.81;ReadPosRankSum=-0.922;VQSLOD=7.2264;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,10:16:99:299,0,150 4 5624670 5624670 T C exonic EVC2 nonsynonymous SNV EVC2:NM_001166136:exon14:c.A1855G:p.T619A,EVC2:NM_147127:exon14:c.A2095G:p.T699A 0.52 0.88 0.4 0.62 0.26 0.28 0.3706 0.7944 0.4275 0.6301 0.3375 0.2851 0.3370 0.2887 0.45 0.77 0.28 0.53 0.25 rs730469 COSM3721683;COSM3721684 1(haematopoietic_and_lymphoid_tissue);3(pancreas);1(upper_aerodigestive_tract) Benign|Benign not_specified|Ellis-van_Creveld_Syndrome RCV000250571.2|RCV000349643.1 MedGen|MedGen CN169374|CN239258 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.530 0.116 N 1 0.090 P -1.06 0.011 N -0.79 0.737 T 0.07 0.061 N 0.005 0.040 -0.961 0.391 T 0.000 0.000 T . . . -2.664 0.002 0.001 0.153 0.004 0.019 0.057 N c -1.409 -1.351 0.434 0.204 0.706 0.609 0 0.373 0.153 1.541 0.355 -0.351 0.070 0.282 0.249 0.000 0.016 1.458 0.022 . . . 0.3639 0.8015 0.4247 0.2610 0.6319 0.3409 0.2806 0.3303 0.2881 0.4506 0.7865 0.3902 0.2517 0.6264 0.3371 0.2778 0.3344 het 1941.51 155 4 5624670 . T C 1941.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.396;DP=155;Dels=0.00;FS=2.354;HRun=0;HaplotypeScore=4.7722;MQ=58.82;MQ0=0;MQRankSum=0.468;QD=12.53;ReadPosRankSum=0.541;VQSLOD=5.6903;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,74:155:99:1971,0,2135 4 5743509 5743509 C T exonic EVC synonymous SNV EVC:NM_001306090:exon6:c.C769T:p.L257L,EVC:NM_001306092:exon6:c.C769T:p.L257L,EVC:NM_153717:exon6:c.C769T:p.L257L 0.97 1. 0.98 1. 0.94 0.9 0.9456 0.9913 0.9828 0.9994 0.9525 0.9343 0.9403 0.9063 0.95 0.99 0.94 0.97 0.8 rs6446393 . . Benign|Benign|Benign not_specified|Curry-Hall_syndrome|Ellis-van_Creveld_Syndrome RCV000179557.3|RCV000284741.1|RCV000337462.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C0457013:193530:277807007|CN239258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9477 0.9908 0.9825 0.9340 0.9993 0.9541 0.9344 0.9466 0.9067 0.9533 0.9901 0.9808 0.96 0.9994 0.9553 0.9260 0.9346 hom 1916.81 67 4 5743509 . C T 1916.81 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.94;MQ0=1;QD=28.19;VQSLOD=8.2117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1950,147,0 4 5743512 5743512 T C exonic EVC nonsynonymous SNV EVC:NM_001306090:exon6:c.T772C:p.Y258H,EVC:NM_001306092:exon6:c.T772C:p.Y258H,EVC:NM_153717:exon6:c.T772C:p.Y258H 0.74 0.5 0.78 0.9 0.79 0.83 0.7951 0.5351 0.8108 0.9116 0.8584 0.8027 0.7967 0.8264 0.71 0.52 0.8 0.74 0.72 rs6414624 . . Benign|Benign|Benign not_specified|Ellis-van_Creveld_Syndrome|Curry-Hall_syndrome RCV000179558.3|RCV000297646.1|RCV000400923.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239258|C0457013:193530:277807007 . . . . . . 0.432 0.095 T 0.009 0.139 B 0.016 0.166 B 0.403 0.131 N 1 0.090 P 1.185 0.302 L 0.51 0.555 T -1.14 0.408 N 0.116 0.127 -1.006 0.283 T 0.000 0.000 T . . . 0.693 0.160 8.779 0.949 0.252 0.499 0.283 N c -0.476 -0.407 0.997 0.354 0.706 0.609 0 2.72 0.310 2.221 0.423 1.042 0.661 0.970 0.340 0.996 0.625 8.084 0.297 . . . 0.7967 0.5258 0.8052 0.7223 0.9062 0.8598 0.8009 0.7906 0.8246 0.7357 0.5398 0.7933 0.76 0.9167 0.8599 0.7926 0.8101 hom 1938.10 66 4 5743512 . T C 1938.10 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=29.37;VQSLOD=9.0199;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1971,147,0 4 5750003 5750003 A G exonic EVC synonymous SNV EVC:NM_001306090:exon8:c.A1068G:p.L356L,EVC:NM_001306092:exon8:c.A1068G:p.L356L,EVC:NM_153717:exon8:c.A1068G:p.L356L 0.22 0.063 0.34 0.2 0.36 0.2 0.2925 0.1031 0.3189 0.1814 0.2970 0.3556 0.3179 0.1931 0.27 0.11 0.36 0.27 0.42 rs33929747 . . Benign|Benign|Benign not_specified|Ellis-van_Creveld_Syndrome|Curry-Hall_syndrome RCV000252072.2|RCV000310572.1|RCV000365218.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239258|C0457013:193530:277807007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2974 0.1005 0.3296 0.4041 0.1857 0.2992 0.3493 0.3415 0.1909 0.2638 0.1052 0.3237 0.4139 0.1867 0.3007 0.3460 0.3204 hom 1495.05 45 4 5750003 . A G 1495.05 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=33.22;VQSLOD=9.2706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1528,123,0 4 5755542 5755542 C A exonic EVC nonsynonymous SNV EVC:NM_001306090:exon10:c.C1346A:p.T449K,EVC:NM_001306092:exon10:c.C1346A:p.T449K,EVC:NM_153717:exon10:c.C1346A:p.T449K 0.84 0.99 0.73 0.83 0.79 0.8 0.7965 0.9587 0.6996 0.8089 0.7674 0.7922 0.8079 0.7842 0.85 0.95 0.8 0.84 0.77 rs2302075 . . Benign|Benign|Benign not_specified|Ellis-van_Creveld_Syndrome|Curry-Hall_syndrome RCV000153204.5|RCV000360127.1|RCV000390155.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239258|C0457013:193530:277807007 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.555 0.114 N 1 0.090 P -1.845 0.003 N 0.81 0.485 T 1.94 0.006 N 0.047 0.028 -0.970 0.371 T 0.000 0.000 T . . . 0.312 0.124 5.813 0.809 0.129 0.002 0.012 N c -1.588 -1.468 1.000 0.747 0.742 0.980 0 -0.274 0.122 0.433 0.210 0.242 0.267 0.055 0.214 0.084 0.183 1.066 0.015 . ENSG00000072840.8|ENSG00000072832.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.7901 0.9622 0.7137 0.8284 0.8102 0.7663 0.7911 0.7811 0.7796 0.8332 0.9539 0.7387 0.8642 0.8257 0.7748 0.7849 0.7867 hom 6436.02 203 4 5755542 . C A 6436.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.712;DP=203;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4710;MQ=59.04;MQ0=0;MQRankSum=2.256;QD=31.70;ReadPosRankSum=1.071;VQSLOD=8.0073;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,201:203:99:6391,452,0 4 5785442 5785442 G A exonic EVC nonsynonymous SNV EVC:NM_001306090:exon12:c.G1727A:p.R576Q,EVC:NM_153717:exon12:c.G1727A:p.R576Q 0.3 0.18 0.47 0.33 0.4 0.22 0.3472 0.2071 0.4928 0.3176 0.3372 0.3769 0.3424 0.2321 0.31 0.2 0.36 0.28 0.39 rs1383180 COSM3760684 1(large_intestine) Benign|Benign|Benign not_specified|Ellis-van_Creveld_Syndrome|Curry-Hall_syndrome RCV000254232.2|RCV000315414.1|RCV000369969.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239258|C0457013:193530:277807007 . . . . . . 0.124 0.274 T 1.0 0.899 D 0.995 0.818 D 0.025 0.261 N 0.084 0.365 P 2.455 0.715 M 0.47 0.561 T -2.12 0.481 N 0.103 0.107 -0.928 0.445 T 0.000 0.000 T . . . 4.861 0.653 24.9 0.999 0.998 0.873 0.466 D c 0.421 0.331 0.990 0.319 0.615 0.372 0 4.1 0.470 3.162 0.502 1.048 0.713 0.995 0.385 0.921 0.396 8.837 0.341 . . . 0.3486 0.1946 0.4942 0.3813 0.3080 0.3366 0.3658 0.3666 0.2225 0.3227 0.2047 0.4535 0.3967 0.3218 0.3479 0.3742 0.3609 het 968.74 68 4 5785442 . G A 968.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.232;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7059;MQ=59.32;MQ0=0;MQRankSum=-0.572;QD=14.25;ReadPosRankSum=-1.125;VQSLOD=6.1606;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:999,0,1095 4 5838513 5838513 C G exonic CRMP1 synonymous SNV CRMP1:NM_001014809:exon10:c.G1431C:p.T477T,CRMP1:NM_001288661:exon10:c.G1083C:p.T361T,CRMP1:NM_001288662:exon10:c.G1071C:p.T357T,CRMP1:NM_001313:exon10:c.G1089C:p.T363T 0.59 0.92 0.4 0.6 0.41 0.45 0.4794 0.8601 0.3636 0.5467 0.4353 0.4405 0.4086 0.4645 0.58 0.84 0.45 0.62 0.48 rs12331 COSM447986 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4655 0.8671 0.3681 0.4037 0.5408 0.4364 0.4414 0.4161 0.4672 0.5695 0.8570 0.3759 0.3841 0.5340 0.4376 0.4580 0.4674 hom 5814.28 190 4 5838513 . C G 5814.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.714;DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4102;MQ=59.04;MQ0=0;MQRankSum=1.585;QD=30.60;ReadPosRankSum=0.852;VQSLOD=7.7938;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,188:190:99:5813,478,0 4 5841350 5841350 A G exonic CRMP1 synonymous SNV CRMP1:NM_001014809:exon9:c.T1209C:p.H403H,CRMP1:NM_001288661:exon9:c.T861C:p.H287H,CRMP1:NM_001288662:exon9:c.T849C:p.H283H,CRMP1:NM_001313:exon9:c.T867C:p.H289H 0.3 0.45 0.16 0.48 0.12 0.19 0.2003 0.4387 0.1630 0.4366 0.1407 0.1409 0.1744 0.2056 0.23 0.41 0.13 0.3 0.074 rs16837723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1776 0.4242 0.1546 0.1540 0.4235 0.1086 0.1275 0.1464 0.1890 0.2256 0.4164 0.1527 0.1656 0.4011 0.1122 0.1310 0.1724 het 472.06 37 4 5841350 . A G 472.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.079;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3670;MQ=54.36;MQ0=0;MQRankSum=0.106;QD=12.76;ReadPosRankSum=1.535;VQSLOD=3.9772;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,19:37:99:502,0,473 4 6293696 6293696 C G exonic WFS1 synonymous SNV WFS1:NM_001145853:exon6:c.C684G:p.R228R,WFS1:NM_006005:exon6:c.C684G:p.R228R 0.76 0.7 0.74 0.9 0.68 0.77 0.7212 0.6842 0.7895 0.9366 0.6327 0.6791 0.732 0.7732 0.68 0.67 0.68 0.73 0.51 rs1801213 . . other|Benign|Benign not_specified|WFS1-Related_Spectrum_Disorders|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000038665.7|RCV000261705.1|RCV000319343.1 MedGen|MedGen|MedGen CN169374|CN239410|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7158 0.6734 0.7821 0.7876 0.9336 0.6010 0.6683 0.7167 0.7659 0.6800 0.6706 0.7804 0.7815 0.9431 0.6050 0.6670 0.6752 hom 620.33 22 4 6293696 . C G 620.33 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.08;MQ0=0;QD=28.20;VQSLOD=7.1513;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:51.16:653,51,0 4 6302519 6302519 G A exonic WFS1 nonsynonymous SNV WFS1:NM_001145853:exon8:c.G997A:p.V333I,WFS1:NM_006005:exon8:c.G997A:p.V333I 0.88 0.99 0.78 0.99 0.73 0.86 0.7818 0.9555 0.8124 0.9979 0.6704 0.7173 0.7742 0.8433 0.8 0.95 0.72 0.87 0.66 rs1801212 . . Benign|Benign\x2cBenign not_specified|WFS1-Related_Spectrum_Disorders\x2cnot_specified RCV000038668.8|RCV000259675.1\x2cRCV000155337.1 MedGen|MedGen\x2cMedGen CN169374|CN239410\x2cCN169374 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.000 0.843 N 1.000 0.198 P -2.83 0.000 N -1.98 0.853 D 0.36 0.037 N 0.045 0.215 -0.946 0.416 T 0.000 0.000 T . . . 0.236 0.117 5.055 0.562 0.054 0.254 0.225 N c -0.960 -0.671 0.519 0.211 0.706 0.609 0 3.4 0.379 4.065 0.570 0.242 0.267 1.000 0.715 0.999 0.750 8.382 0.315 . ENSG00000109501.9 Skin_Sun_Exposed_Lower_leg 0.7799 0.9562 0.8112 0.8144 0.9981 0.6629 0.7167 0.7714 0.8409 0.7950 0.9534 0.8137 0.8046 1 0.6633 0.7143 0.7312 hom 8010.71 250 4 6302519 . G A 8010.71 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6485;MQ=59.33;MQ0=0;QD=32.04;VQSLOD=9.2653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8010,635,0 4 6302707 6302707 C T exonic WFS1 synonymous SNV WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V 0.64 0.45 0.67 0.9 0.62 0.64 0.6245 0.4646 0.7443 0.9358 0.5720 0.5907 0.6355 0.6352 0.55 0.46 0.6 0.59 0.56 rs1801206 COSM5021444 1(bone) other|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant|WFS1-Related_Spectrum_Disorders RCV000038635.10|RCV000344908.1|RCV000380942.1 MedGen|MedGen|MedGen CN169374|CN239435|CN239410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6336 0.4630 0.7363 0.6768 0.9325 0.5702 0.5877 0.6375 0.6364 0.5740 0.4552 0.7098 0.6913 0.9394 0.5724 0.5924 0.5957 hom 8100.63 250 4 6302707 . C T 8100.63 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8258;MQ=59.32;MQ0=0;QD=32.40;VQSLOD=8.6604;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8099,674,0 4 6303022 6303022 C T exonic WFS1 synonymous SNV WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N 0.73 0.69 0.7 0.91 0.64 0.71 0.6595 0.6736 0.7600 0.9441 0.5735 0.6010 0.6641 0.7013 0.63 0.68 0.61 0.73 0.61 rs1801214 . . other|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant|WFS1-Related_Spectrum_Disorders RCV000038641.10|RCV000294241.1|RCV000330600.1 MedGen|MedGen|MedGen CN169374|CN239435|CN239410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6642 0.6730 0.7529 0.6979 0.9409 0.5739 0.5977 0.6598 0.6992 0.6402 0.6655 0.7380 0.7152 0.9493 0.5722 0.6024 0.6163 hom 5800.83 179 4 6303022 . C T 5800.83 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4715;MQ=59.53;MQ0=0;QD=32.41;VQSLOD=8.6396;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5800,463,0 4 6303354 6303354 G A exonic WFS1 nonsynonymous SNV WFS1:NM_001145853:exon8:c.G1832A:p.R611H,WFS1:NM_006005:exon8:c.G1832A:p.R611H 0.47 0.032 0.55 0.81 0.56 0.56 0.5367 0.1072 0.6665 0.8363 0.4932 0.5397 0.5385 0.5648 0.4 0.12 0.55 0.38 0.52 rs734312 COSM149634 1(stomach);3(prostate) other|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant|WFS1-Related_Spectrum_Disorders RCV000038646.10|RCV000339307.1|RCV000404430.1 MedGen|MedGen|MedGen CN169374|CN239435|CN239410 . . . . . . 0.085 0.327 T 0.146 0.262 B 0.04 0.225 B 0.000 0.629 N 0.001 0.467 P 2.57 0.754 M -3.25 0.935 D -1.82 0.427 N 0.38 0.440 -0.912 0.466 T 0.000 0.000 T . . . 1.189 0.209 11.69 0.978 0.358 0.974 0.741 D c -0.177 -0.105 0.998 0.359 0.707 0.730 0 4.57 0.557 4.924 0.629 0.085 0.192 1.000 0.715 0.952 0.428 13.257 0.593 . ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9|ENSG00000109501.9 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5516 0.0988 0.658 0.6438 0.8341 0.4882 0.5381 0.5512 0.5680 0.4305 0.1080 0.6235 0.6490 0.8335 0.4897 0.5412 0.5061 hom 8565.21 250 4 6303354 . G A 8565.21 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2792;MQ=59.39;MQ0=0;QD=34.26;VQSLOD=8.0316;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8564,698,0 4 6303955 6303955 G A exonic WFS1 synonymous SNV WFS1:NM_001145853:exon8:c.G2433A:p.K811K,WFS1:NM_006005:exon8:c.G2433A:p.K811K 0.65 0.49 0.68 0.9 0.62 0.64 0.6294 0.5066 0.7468 0.9364 0.5672 0.5918 0.6320 0.6375 0.57 0.51 0.6 0.63 0.57 rs1046314 COSM3760688 1(thyroid);2(large_intestine);1(central_nervous_system) other|Benign|Benign not_specified|WFS1-Related_Spectrum_Disorders|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000038659.10|RCV000292566.1|RCV000352148.1 MedGen|MedGen|MedGen CN169374|CN239410|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6359 0.5015 0.7381 0.6773 0.9322 0.5676 0.5868 0.6380 0.6352 0.5865 0.4997 0.7146 0.6887 0.9395 0.5682 0.5931 0.5957 hom 3006.05 86 4 6303955 . G A 3006.05 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9916;MQ=58.58;MQ0=0;QD=34.95;VQSLOD=9.3396;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:3039,244,0 4 6304087 6304087 A G exonic WFS1 synonymous SNV WFS1:NM_001145853:exon8:c.A2565G:p.S855S,WFS1:NM_006005:exon8:c.A2565G:p.S855S 0.78 0.78 0.75 0.9 0.69 0.77 0.7228 0.7613 0.7931 0.9368 0.6071 0.6767 0.7309 0.7673 0.71 0.76 0.69 0.81 0.61 rs1046316 COSM448013 1(thyroid) other|Benign|Benign\x2cLikely benign not_specified|WFS1-Related_Spectrum_Disorders|Nonsyndromic_Hearing_Loss\x2c_Dominant\x2cnot_specified RCV000038660.10|RCV000272258.1|RCV000329623.1\x2cRCV000442047.1 MedGen|MedGen|MedGen\x2cMedGen CN169374|CN239410|CN239435\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7244 0.7608 0.7894 0.7894 0.9332 0.6020 0.6741 0.7248 0.7670 0.7059 0.7574 0.7852 0.7848 0.9407 0.6042 0.6701 0.6776 hom 3102.65 97 4 6304087 . A G 3102.65 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8490;MQ=58.56;MQ0=0;QD=31.99;VQSLOD=9.1281;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:97:99:3136,265,0 4 6325086 6325086 G A exonic PPP2R2C synonymous SNV PPP2R2C:NM_020416:exon9:c.C1287T:p.I429I,PPP2R2C:NM_181876:exon9:c.C1287T:p.I429I,PPP2R2C:NM_001206994:exon10:c.C1266T:p.I422I,PPP2R2C:NM_001206995:exon10:c.C1266T:p.I422I,PPP2R2C:NM_001206996:exon10:c.C1236T:p.I412I 0.65 0.43 0.66 0.94 0.58 0.74 0.6319 0.4559 0.7476 0.9167 0.5347 0.5892 0.6361 0.7232 0.54 0.46 0.59 0.59 0.56 rs3796403 COSM3760690;COSM3760689 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6402 0.4535 0.7392 0.7352 0.9147 0.5254 0.5858 0.6352 0.7224 0.5581 0.4629 0.7093 0.7583 0.9030 0.5198 0.5724 0.5603 het 1511.72 134 4 6325086 . G A 1511.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.271;DP=134;Dels=0.00;FS=11.038;HRun=1;HaplotypeScore=6.2654;MQ=59.52;MQ0=0;MQRankSum=1.846;QD=11.28;ReadPosRankSum=1.609;VQSLOD=3.5895;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,60:134:99:1542,0,2025 4 6596360 6596360 G A exonic MAN2B2 nonsynonymous SNV MAN2B2:NM_001292038:exon7:c.G805A:p.V269M,MAN2B2:NM_015274:exon7:c.G958A:p.V320M 0.46 0.44 0.48 0.39 0.54 0.45 0.4951 0.4372 0.4809 0.3548 0.5850 0.5195 0.5088 0.4802 0.49 0.44 0.52 0.49 0.55 rs2301795 COSM5618071;COSM4159134 2(breast);1(thyroid) . . . . . . . . . . . 0.176 0.262 T 0.37 0.332 B 0.33 0.403 B 0.014 0.287 N 0.970 0.257 P 1.705 0.444 L -1.04 0.766 T -1.6 0.385 N 0.095 0.385 -0.923 0.451 T 0.000 0.000 T . . . 1.077 0.197 11.09 0.961 0.280 0.724 0.352 D c -0.377 -0.416 0.988 0.313 0.707 0.730 0 2.76 0.314 3.738 0.545 0.943 0.531 1.000 0.715 0.146 0.204 8.097 0.298 Glycoside hydrolase 38/57\x2c N-terminal domain|Glycoside hydrolase family 38\x2c N-terminal domain|Glycoside hydrolase/deacetylase\x2c beta/alpha-barrel . . 0.4988 0.4356 0.4865 0.5033 0.3587 0.5906 0.5183 0.5150 0.4817 0.4864 0.4310 0.4462 0.4901 0.3569 0.5874 0.5104 0.5 hom 2944.87 95 4 6596360 . G A 2944.87 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9140;MQ=58.78;MQ0=0;QD=31.00;VQSLOD=8.7869;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2978,244,0 4 6619165 6619165 A G exonic MAN2B2 synonymous SNV MAN2B2:NM_001292038:exon17:c.A2607G:p.L869L,MAN2B2:NM_015274:exon17:c.A2760G:p.L920L 0.98 0.94 0.99 1. 1. 0.98 0.9924 0.9471 0.9972 1 1 0.9999 0.9934 0.9803 0.98 0.95 1. 0.97 1. rs4689489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9939 0.9492 0.9973 0.9995 0.9999 1 0.9999 0.9973 0.9804 0.9852 0.9491 0.9952 1 1 1 0.9998 0.9918 hom 3566.10 112 4 6619165 . A G 3566.10 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.17;MQ0=0;QD=31.84;VQSLOD=9.8602;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3566,277,0 4 6619204 6619204 G A exonic MAN2B2 synonymous SNV MAN2B2:NM_001292038:exon17:c.G2646A:p.V882V,MAN2B2:NM_015274:exon17:c.G2799A:p.V933V 0.69 0.28 0.84 0.9 0.86 0.73 0.8099 0.3572 0.9082 0.8958 0.8895 0.8652 0.8219 0.7239 0.7 0.37 0.87 0.59 0.84 rs4689490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8224 0.3412 0.9016 0.7681 0.8945 0.8865 0.8722 0.8232 0.7251 0.7281 0.3530 0.8756 0.7848 0.9005 0.8886 0.8736 0.8381 hom 2445.59 76 4 6619204 . G A 2445.59 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=58.16;MQ0=0;QD=32.18;VQSLOD=9.1164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2479,199,0 4 6698667 6698667 T C exonic S100P synonymous SNV S100P:NM_005980:exon2:c.T186C:p.D62D 1. 1. 1. 1. 1. 1. 0.9998 0.9978 0.9997 0.9998 1 1.0000 1 1 1. 1. 1. 1. 0.97 rs11734898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9982 0.9999 1 0.9998 1 0.9999 1 1 0.9995 0.9985 0.9988 1 0.9988 1 0.9999 1 hom 8200.43 250 4 6698667 . T C 8200.43 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8332;MQ=58.40;MQ0=0;QD=32.80;VQSLOD=8.0893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8161,686,0 4 6698706 6698706 A C exonic S100P synonymous SNV S100P:NM_005980:exon2:c.A225C:p.I75I 0.98 0.95 0.99 1. 1. 1. 0.9957 0.9532 0.9978 1 1 0.9999 0.9978 0.9999 0.98 0.95 1. 0.98 1. rs11733989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9529 0.9975 1 1 0.9998 0.9998 0.9974 0.9998 0.9872 0.9565 0.9952 1 1 0.9994 0.9997 0.9939 hom 7889.63 250 4 6698706 . A C 7889.63 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8640;MQ=58.28;MQ0=0;QD=31.56;VQSLOD=9.2616;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7888,683,0 4 7062895 7062895 G A exonic GRPEL1 synonymous SNV GRPEL1:NM_025196:exon4:c.C348T:p.D116D 0.0014 . 0.0058 . 0.003 . 0.0036 0.0006 0.0004 0 0.0062 0.0056 0.0046 0 0.0028 0.0009 0.0038 . 0.0082 rs141369619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0031 0.0006 0.0002 0.0002 5.802e-05 0.0056 0.0054 0.0031 0 0.0029 0.0005 0 0 0 0.0060 0.0041 0.0020 het 2216.87 201 4 7062895 . G A 2216.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.099;DP=201;Dels=0.00;FS=1.790;HRun=0;HaplotypeScore=8.6499;MQ=58.91;MQ0=0;MQRankSum=0.155;QD=11.03;ReadPosRankSum=0.064;VQSLOD=2.9359;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:109,92:201:99:2247,0,2848 4 7435194 7435194 G A exonic PSAPL1 synonymous SNV PSAPL1:NM_001085382:exon1:c.C1413T:p.G471G 0.12 0.1 0.11 0.11 0.18 0.065 0.2201 0.1606 0.2268 0.1528 0.2517 0.2426 0.2037 0.1374 0.16 0.12 0.17 0.11 . rs12498567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1517 0.1210 0.1569 0.1269 0.1057 0.1706 0.1809 0.1521 0.0660 0.1635 0.1258 0.1599 0.1391 0.1051 0.1794 0.1894 0.1524 hom 756.29 26 4 7435194 . G A 756.29 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.11;MQ0=0;QD=29.09;VQSLOD=7.5961;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:66.19:789,66,0 4 7435379 7435379 A G exonic PSAPL1 synonymous SNV PSAPL1:NM_001085382:exon1:c.T1228C:p.L410L 0.99 0.96 1. 1. 1. 1. 0.9969 0.9675 0.9986 1 1 0.9995 1 1 0.99 0.97 1. 0.98 . rs4689746 COSM4159169;COSM4159168 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9976 0.9693 0.9983 0.9993 1 1 0.9995 0.9985 1 0.9914 0.9706 1 1 1 1 0.9998 0.9949 hom 1217 35 4 7435379 . A G 1217 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=34.77;VQSLOD=9.5196;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:96.31:1250,96,0 4 7714490 7714490 T C exonic SORCS2 synonymous SNV SORCS2:NM_020777:exon15:c.T1899C:p.D633D 0.85 0.79 0.8 1. 0.73 0.92 0.7929 0.7939 0.8694 0.9991 0.7585 0.7267 0.7567 0.9142 0.74 0.81 0.71 0.8 . rs4689833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7924 0.7935 0.8516 0.7424 0.9992 0.7615 0.7218 0.7471 0.9144 0.7610 0.7907 0.8385 0.7133 0.9988 0.7606 0.7149 0.7566 het 2141.96 140 4 7714490 . T C 2141.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.885;DP=140;Dels=0.00;FS=8.015;HRun=0;HaplotypeScore=1.8561;MQ=59.57;MQ0=0;MQRankSum=0.218;QD=15.30;ReadPosRankSum=-0.402;VQSLOD=4.8597;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,77:140:99:2172,0,1558 4 7716910 7716910 C T exonic SORCS2 synonymous SNV SORCS2:NM_020777:exon17:c.C2124T:p.C708C 0.17 0.26 0.089 0.17 0.093 0.17 0.1108 0.2265 0.0695 0.1915 0.0670 0.0873 0.0996 0.1426 0.13 0.22 0.086 0.11 . rs28531835 COSM1431099;COSM4414950;COSM4414949 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1069 0.2311 0.0670 0.1403 0.1924 0.0678 0.0846 0.1075 0.1396 0.1262 0.2284 0.0680 0.1490 0.2031 0.0667 0.0771 0.0988 het 2160.42 196 4 7716910 . C T 2160.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.200;DP=196;Dels=0.00;FS=8.345;HRun=0;HaplotypeScore=3.9740;MQ=58.64;MQ0=0;MQRankSum=2.730;QD=11.02;ReadPosRankSum=0.634;VQSLOD=3.0952;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,88:196:99:2190,0,2812 4 7716932 7716932 T C exonic SORCS2 nonsynonymous SNV SORCS2:NM_020777:exon17:c.T2146C:p.S716P 0.94 0.84 0.96 1. 0.96 0.98 0.9512 0.8579 0.9721 0.9995 0.9640 0.9468 0.9621 0.9790 0.92 0.86 0.94 0.86 . rs6816604 . . . . . . . . . . . . . 0.398 0.109 T 0.0 0.026 B 0.0 0.013 B 0.339 0.140 N 1 0.090 P -1.5 0.005 N 2.45 0.150 T 0.23 0.049 N 0.037 0.022 -1.053 0.136 T 0.000 0.000 T . . . -0.294 0.069 0.686 0.868 0.162 0.010 0.037 N c -1.370 -1.404 0.828 0.246 0.743 0.982 0 -2.11 0.068 0.246 0.178 -0.896 0.027 0.000 0.063 0.208 0.219 0.741 0.009 Sortilin\x2c C-terminal|VPS10 . . 0.9526 0.8578 0.9661 0.9343 0.9997 0.9676 0.9456 0.9507 0.9787 0.9252 0.8606 0.9678 0.9139 0.9988 0.9688 0.9409 0.9481 hom 5693.62 183 4 7716932 . T C 5693.62 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6399;MQ=58.66;MQ0=0;QD=31.11;VQSLOD=8.2425;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:183:99:5693,436,0 4 7780582 7780582 C T exonic AFAP1 nonsynonymous SNV AFAP1:NM_198595:exon13:c.G1552A:p.V518M,AFAP1:NM_001134647:exon14:c.G1804A:p.V602M 0.11 0.011 0.15 0.061 0.3 0.078 0.2211 0.0506 0.1267 0.0665 0.2687 0.3044 0.2356 0.1179 0.22 0.054 0.3 0.11 0.28 rs41264705 COSM4003147;COSM4003148 1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . 0.091 0.318 T 0.832 0.447 P 0.036 0.268 B 0.126 0.028 N 1 0.090 P 1.155 0.297 L 2.48 0.149 T -0.3 0.119 N 0.024 0.007 -0.946 0.417 T 0.000 0.000 T . . . 1.481 0.240 13.21 0.956 0.268 0.083 0.141 N c -0.841 -0.938 1.000 0.473 0.706 0.609 0 -0.23 0.124 -0.464 0.067 -0.320 0.077 0.000 0.063 0.026 0.142 5.890 0.180 . ENSG00000196526.6|ENSG00000196526.6|ENSG00000196526.6|ENSG00000196526.6|ENSG00000272620.1 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood|Whole_Blood 0.2191 0.0448 0.1382 0.2602 0.0638 0.2633 0.3060 0.2374 0.1179 0.2093 0.0513 0.1850 0.2417 0.0586 0.2575 0.3051 0.2434 het 871.43 91 4 7780582 . C T 871.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.768;DP=91;Dels=0.00;FS=0.978;HRun=0;HaplotypeScore=1.8661;MQ=58.13;MQ0=0;MQRankSum=-0.337;QD=9.58;ReadPosRankSum=1.993;VQSLOD=4.5139;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,36:91:99:901,0,1355 4 7802292 7802292 G A exonic AFAP1 synonymous SNV AFAP1:NM_001134647:exon10:c.C1143T:p.T381T,AFAP1:NM_198595:exon10:c.C1143T:p.T381T 0.11 0.011 0.15 0.061 0.3 0.076 0.2217 0.0503 0.1297 0.0666 0.2691 0.3063 0.2362 0.1139 0.22 0.056 0.3 0.11 0.3 rs11728778 COSM4003150;COSM4003149 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2205 0.0447 0.1416 0.2628 0.0642 0.2631 0.3085 0.2413 0.1145 0.2108 0.0522 0.1897 0.2467 0.0576 0.2577 0.3070 0.2434 het 1329.63 111 4 7802292 . G A 1329.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.682;DP=111;Dels=0.00;FS=0.716;HRun=0;HaplotypeScore=2.4602;MQ=58.85;MQ0=0;MQRankSum=-0.021;QD=11.98;ReadPosRankSum=-0.400;VQSLOD=6.5743;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,50:111:99:1360,0,1728 4 7857230 7857230 C T exonic AFAP1 synonymous SNV AFAP1:NM_001134647:exon4:c.G297A:p.P99P,AFAP1:NM_198595:exon4:c.G297A:p.P99P 0.18 0.048 0.25 0.065 0.44 0.15 0.3248 0.0939 0.1904 0.0707 0.4131 0.4421 0.3322 0.1825 0.32 0.1 0.44 0.15 0.56 rs61742221 COSM4416020;COSM4416021 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3227 0.09 0.1987 0.4079 0.0694 0.4145 0.4432 0.3716 0.1772 0.3133 0.0984 0.2339 0.4139 0.0667 0.4164 0.4403 0.3612 het 853.49 75 4 7857230 . C T 853.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.875;DP=75;Dels=0.00;FS=4.715;HRun=0;HaplotypeScore=1.6567;MQ=60.00;MQ0=0;MQRankSum=0.228;QD=11.38;ReadPosRankSum=0.111;VQSLOD=5.7250;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,36:75:99:883,0,1015 4 8031471 8031471 A G exonic ABLIM2 synonymous SNV ABLIM2:NM_001286688:exon7:c.T384C:p.C128C,ABLIM2:NM_001130083:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130084:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130085:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130086:exon11:c.T1080C:p.C360C,ABLIM2:NM_032432:exon11:c.T1080C:p.C360C,ABLIM2:NM_001130087:exon12:c.T1113C:p.C371C,ABLIM2:NM_001130088:exon12:c.T1113C:p.C371C 0.73 0.77 0.73 0.78 0.74 0.62 0.7400 0.8035 0.7502 0.8010 0.8209 0.7464 0.7681 0.6571 0.75 0.8 0.73 0.79 . rs2385904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7249 0.7882 0.7074 0.6702 0.7888 0.7887 0.7304 0.7136 0.6458 0.7557 0.7929 0.7117 0.6788 0.8138 0.7866 0.7256 0.7393 hom 307.97 11 4 8031471 . A G 307.97 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.09;MQ0=0;QD=28.00;VQSLOD=8.1102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.07:341,27,0 4 8228731 8228731 T C exonic SH3TC1 nonsynonymous SNV SH3TC1:NM_001318480:exon12:c.T1082C:p.L361P,SH3TC1:NM_018986:exon12:c.T1310C:p.L437P 0.97 0.89 0.99 1. 1. 1. 0.9906 0.9052 0.9924 0.9999 1 0.9995 0.9965 0.9996 0.97 0.91 1. 0.96 0.98 rs1281145 . . . . . . . . . . . . . 0.804 0.031 T 0.0 0.026 B 0.001 0.040 B 0.979 0.078 N 1 0.090 P -1.475 0.005 N 0.99 0.418 T 2.83 0.002 N 0.023 0.107 -0.982 0.347 T 0.000 0.000 T . . . -0.712 0.044 0.067 0.040 0.000 0.006 0.025 N c -1.763 -1.660 1.000 0.414 0.672 0.522 0 1.04 0.191 -0.614 0.057 -2.581 0.002 0.000 0.063 0.000 0.016 10.054 0.412 . . . 0.9919 0.9046 0.9927 0.9997 0.9999 1 0.9995 0.9950 0.9997 0.9743 0.9113 0.9881 1 1 1 0.9995 0.9959 hom 1508.10 50 4 8228731 . T C 1508.10 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=59.16;MQ0=0;QD=30.16;VQSLOD=9.3707;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1541,120,0 4 8228894 8228894 T C exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.T1245C:p.D415D,SH3TC1:NM_018986:exon12:c.T1473C:p.D491D 0.97 0.88 0.99 1. 1. 1. 0.9910 0.9032 0.9948 0.9999 1 0.9995 0.9953 0.9999 0.97 0.91 1. 0.91 0.6 rs1292647 COSM4159230 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9927 0.9016 0.9941 1 0.9996 1 0.9995 0.9960 0.9999 0.9729 0.9054 0.9916 1 1 1 0.9997 0.9969 hom 792.83 28 4 8228894 . T C 792.83 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=28.32;VQSLOD=8.6923;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:72.18:826,72,0 4 8228948 8228948 T C exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.T1299C:p.P433P,SH3TC1:NM_018986:exon12:c.T1527C:p.P509P 0.23 0.075 0.27 0.33 0.32 0.21 0.3206 0.1350 0.3602 0.3693 0.3546 0.3500 0.3366 0.2683 0.24 0.12 0.31 0.28 0.049 rs55642964 COSM3760786 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2914 0.1142 0.2859 0.3470 0.3332 0.3264 0.3149 0.2887 0.2390 0.2511 0.1160 0.2673 0.3675 0.3174 0.3292 0.2989 0.2863 het 172.67 18 4 8228948 . T C 172.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.537;DP=18;Dels=0.00;FS=2.197;HRun=4;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.537;QD=9.59;ReadPosRankSum=-0.439;VQSLOD=6.0310;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,7:18:99:203,0,294 4 8229218 8229218 A G exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.A1569G:p.L523L,SH3TC1:NM_018986:exon12:c.A1797G:p.L599L 0.98 0.93 0.99 1. 1. 1. 0.9954 0.9513 0.9963 1 1 0.9997 0.9987 0.9999 0.99 0.96 1. 0.97 0.8 rs1281146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9959 0.9516 0.9962 1 1 1 0.9996 0.9966 1.0000 0.9877 0.9577 0.9928 1 1 1 0.9998 0.9980 hom 6159.65 192 4 8229218 . A G 6159.65 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1507;MQ=59.30;MQ0=0;QD=32.08;VQSLOD=8.2443;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:192:99:6159,466,0 4 8229326 8229326 T C exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.T1677C:p.P559P,SH3TC1:NM_018986:exon12:c.T1905C:p.P635P 0.96 0.87 0.99 1. 1. 1. 0.9904 0.8985 0.9944 1 1 0.9995 0.9960 0.9998 0.97 0.91 1. 0.95 0.54 rs1281147 COSM4159231 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9909 0.8988 0.9940 1 1 0.9999 0.9995 0.9950 0.9999 0.9723 0.9033 0.9905 1 1 1 0.9997 0.9959 hom 2183.02 71 4 8229326 . T C 2183.02 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.75;VQSLOD=13.7954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2216,205,0 4 8229713 8229713 A G exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.A2064G:p.Q688Q,SH3TC1:NM_018986:exon12:c.A2292G:p.Q764Q 0.52 0.24 0.52 0.51 0.72 0.68 0.6508 0.3153 0.4794 0.4727 0.6594 0.7370 0.6879 0.7152 0.61 0.33 0.76 0.54 0.65 rs1281148 COSM5424714 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6499 0.309 0.4826 0.8035 0.4716 0.6641 0.7406 0.6534 0.7186 0.5849 0.3216 0.4797 0.77 0.4647 0.6685 0.7295 0.6471 hom 1660.48 51 4 8229713 . A G 1660.48 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=32.56;VQSLOD=9.4257;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1693,138,0 4 8229774 8229774 C T exonic SH3TC1 nonsynonymous SNV SH3TC1:NM_001318480:exon12:c.C2125T:p.R709C,SH3TC1:NM_018986:exon12:c.C2353T:p.R785C 0.48 0.13 0.53 0.51 0.73 0.61 0.6396 0.2197 0.4843 0.4729 0.6608 0.7430 0.7115 0.6648 0.59 0.24 0.77 0.41 0.67 rs1281149 COSM4159232 1(thyroid) . . . . . . . . . . . 0.182 0.218 T 0.017 0.163 B 0.008 0.127 B 0.017 0.277 N 1 0.090 P 0.76 0.193 N -0.87 0.746 T -0.52 0.162 N 0.066 0.219 -0.974 0.363 T 0.000 0.000 T . . . 0.961 0.186 10.44 0.473 0.038 0.065 0.124 N c -0.902 -0.926 1.000 0.747 0.722 0.854 0 1.91 0.247 2.020 0.404 0.783 0.315 0.935 0.322 0.013 0.120 2.848 0.052 . . . 0.6396 0.2049 0.4857 0.8132 0.4713 0.6652 0.7473 0.6594 0.6652 0.5596 0.2237 0.4785 0.7881 0.4642 0.6682 0.7346 0.6430 hom 1857.30 59 4 8229774 . C T 1857.30 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;QD=31.48;VQSLOD=8.3841;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1890,162,0 4 8230070 8230070 T C exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.T2421C:p.A807A,SH3TC1:NM_018986:exon12:c.T2649C:p.A883A 0.53 0.3 0.53 0.52 0.72 0.68 0.6551 0.3644 0.4840 0.4748 0.6592 0.7372 0.6927 0.7142 0.63 0.37 0.76 0.6 0.69 rs1281150 COSM4159233 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6538 0.3566 0.4877 0.8078 0.4736 0.6605 0.7413 0.6557 0.7190 0.5975 0.3678 0.4845 0.7781 0.4647 0.6692 0.7283 0.6459 hom 2506.95 90 4 8230070 . T C 2506.95 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.9776;MQ=58.63;MQ0=0;QD=27.86;VQSLOD=3.8254;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2540,226,0 4 8230235 8230235 T C exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon12:c.T2586C:p.L862L,SH3TC1:NM_018986:exon12:c.T2814C:p.L938L 0.56 0.37 0.55 0.52 0.73 0.67 0.6675 0.4263 0.4974 0.4799 0.6646 0.7469 0.7205 0.7068 0.66 0.44 0.77 0.42 0.55 rs1281151 COSM448222 1(urinary_tract);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6620 0.4150 0.5 0.8324 0.4765 0.6647 0.7494 0.6736 0.7093 0.6210 0.4313 0.4940 0.7967 0.4659 0.6692 0.7385 0.6527 hom 1079.36 37 4 8230235 . T C 1079.36 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=59.75;MQ0=0;QD=29.17;VQSLOD=8.4690;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:96.25:1112,96,0 4 8242466 8242466 A G exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon18:c.A3567G:p.A1189A,SH3TC1:NM_018986:exon18:c.A3795G:p.A1265A 0.98 0.94 0.99 1. 1. 1. 0.9958 0.9566 0.9971 1 1 0.9996 0.9989 0.9996 0.99 0.96 1. 0.92 0.95 rs1281103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9575 0.9969 1 1 1 0.9996 0.9974 0.9998 0.9891 0.9623 0.9952 1 1 1 0.9999 0.9980 hom 4424.04 140 4 8242466 . A G 4424.04 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4167;MQ=59.70;MQ0=0;QD=31.60;VQSLOD=8.6416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4423,364,0 4 8242499 8242499 G A exonic SH3TC1 synonymous SNV SH3TC1:NM_001318480:exon18:c.G3600A:p.Q1200Q,SH3TC1:NM_018986:exon18:c.G3828A:p.Q1276Q 0.023 0.0008 0.022 . 0.038 0.064 0.0390 0.0094 0.0127 0.0003 0.0423 0.0456 0.0365 0.0687 0.038 0.012 0.051 0.011 0.049 rs1048506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0386 0.0084 0.0121 0.0286 0.0002 0.0410 0.0490 0.0370 0.0680 0.0347 0.0111 0.0228 0.0312 0.0006 0.0463 0.0492 0.0470 het 1388.59 126 4 8242499 . G A 1388.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.528;DP=126;Dels=0.00;FS=3.359;HRun=1;HaplotypeScore=0.8941;MQ=59.45;MQ0=0;MQRankSum=1.553;QD=11.02;ReadPosRankSum=-1.488;VQSLOD=5.6876;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,54:126:99:1419,0,1970 4 8582856 8582856 T G exonic GPR78 synonymous SNV GPR78:NM_080819:exon1:c.T147G:p.S49S 0.15 0.033 0.21 0.024 0.33 0.22 0.2645 0.0812 0.1410 0.0176 0.2493 0.3440 0.2714 0.2739 0.26 0.081 0.34 0.087 0.33 rs17844777 COSM3721970 2(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2555 0.0710 0.1483 0.3402 0.0164 0.2184 0.3450 0.2728 0.2667 0.2170 0.0788 0.1718 0.3311 0.0203 0.2175 0.3167 0.2495 het 531.31 44 4 8582856 . T G 531.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.279;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6439;MQ=60.00;MQ0=0;MQRankSum=-0.329;QD=12.08;ReadPosRankSum=0.987;VQSLOD=6.2253;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,23:44:99:561,0,554 4 8583046 8583046 C T exonic GPR78 nonsynonymous SNV GPR78:NM_080819:exon1:c.C337T:p.R113C . . . . . . 3.094e-05 0 0 0 0 5.604e-05 0 0 0.0001 . 0.0001 . . rs376622641 . . . . . . . . . . . . . 0.021 0.491 D 0.999 0.764 D 0.953 0.676 D 0.000 0.629 U 0.923 0.367 D 1.15 0.294 L 0.95 0.433 T -3.48 0.679 D 0.206 0.265 -0.932 0.438 T 0.125 0.431 T 0.015 0.355 T 5.226 0.706 25.6 0.991 0.521 0.013 0.046 N c -0.261 -0.492 0.995 0.341 0.437 0.062 0 -0.758 0.104 2.774 0.471 -0.292 0.083 1.000 0.715 0.006 0.095 4.464 0.110 GPCR\x2c rhodopsin-like\x2c 7TM . . 1.016e-05 0 0 0 0 0 2.26e-05 0 0 . . . . . . . . het 306.70 17 4 8583046 . C T 306.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.251;DP=17;Dels=0.00;FS=2.187;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.251;QD=18.04;ReadPosRankSum=0.653;VQSLOD=4.2540;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,11:17:99:337,0,120 4 8583312 8583312 A C exonic GPR78 nonsynonymous SNV GPR78:NM_080819:exon1:c.A603C:p.R201S 0.15 0.029 0.22 0.025 0.32 0.22 0.3262 0.1053 0.2031 0.0200 0.3236 0.3990 0.3246 0.3401 0.23 0.071 0.31 0.11 0.24 rs17844778 COSM3749888 1(thyroid);8(large_intestine) . . . . . . . . . . . 0.178 0.221 T 0.0 0.026 B 0.001 0.040 B 0.004 0.341 N 1.000 0.090 P -1.24 0.008 N 1.02 0.407 T 0.79 0.019 N 0.046 0.026 -0.936 0.433 T 0.000 0.000 T . . . -0.101 0.084 1.725 0.284 0.015 0.001 0.006 N c -1.342 -1.267 0.942 0.275 0.455 0.088 0 1.64 0.228 0.502 0.221 -0.212 0.100 0.998 0.411 0.013 0.120 9.265 0.366 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2537 0.0683 0.1499 0.3492 0.0147 0.2365 0.3436 0.2702 0.2683 0.2195 0.0755 0.1730 0.3311 0.0197 0.2341 0.3196 0.2546 het 261.90 18 4 8583312 . A C 261.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.355;DP=18;Dels=0.00;FS=2.392;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.971;QD=14.55;ReadPosRankSum=0.088;VQSLOD=6.0646;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:292,0,242 4 8589023 8589023 G A exonic GPR78 nonsynonymous SNV GPR78:NM_080819:exon3:c.G1025A:p.R342H 0.12 0.2 0.055 0.043 0.11 0.12 0.1096 0.1966 0.0462 0.0375 0.1265 0.1108 0.0945 0.1287 0.14 0.2 0.11 0.13 0.066 rs9685931 COSM448271 1(thyroid) . . . . . . . . . . . 0.499 0.078 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N 0.08 0.616 T 1.16 0.011 N 0.1 0.103 -1.081 0.071 T 0.000 0.000 T . . . -1.303 0.022 0.004 0.545 0.051 0.001 0.004 N c -2.248 -2.324 0.998 0.363 0.497 0.185 0 -4.03 0.037 -2.364 0.012 -3.470 0.001 0.000 0.063 0.000 0.016 3.354 0.067 . . . 0.1024 0.1948 0.0478 0.0485 0.0394 0.1194 0.1110 0.0886 0.1284 0.1283 0.1943 0.0585 0.0667 0.0383 0.1186 0.1078 0.1176 het 1361.06 134 4 8589023 . G A 1361.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.159;DP=134;Dels=0.00;FS=0.691;HRun=0;HaplotypeScore=2.2772;MQ=58.89;MQ0=0;MQRankSum=-0.458;QD=10.16;ReadPosRankSum=0.258;VQSLOD=6.1073;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,62:134:99:1391,0,1764 4 8602884 8602884 T C exonic CPZ synonymous SNV CPZ:NM_003652:exon2:c.T123C:p.S41S,CPZ:NM_001014447:exon3:c.T156C:p.S52S 0.98 0.94 1. 1. 1. 1. 0.9953 0.9511 0.9976 1 1 0.9998 0.9977 0.9991 0.98 0.95 1. 0.97 0.82 rs4301095 COSM4159244 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9961 0.9482 0.9973 0.9997 1 1.0000 0.9998 0.9987 0.9990 0.9858 0.9504 0.9988 1 1 1 0.9998 0.9969 hom 3353.25 108 4 8602884 . T C 3353.25 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5473;MQ=59.79;MQ0=0;QD=31.05;VQSLOD=8.5243;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:108:99:3352,274,0 4 8602935 8602935 A G exonic CPZ synonymous SNV CPZ:NM_003652:exon2:c.A174G:p.S58S,CPZ:NM_001014447:exon3:c.A207G:p.S69S 0.98 0.94 1. 1. 1. 1. 0.9955 0.9518 0.9977 1 1 0.9998 0.9978 0.9997 0.98 0.95 1. 0.96 0.89 rs4431213 COSM4159245 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9487 0.9973 0.9998 1 1.0000 0.9998 0.9987 0.9997 0.9860 0.9509 0.9988 1 1 1 0.9998 0.9980 hom 4010.21 135 4 8602935 . A G 4010.21 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9640;MQ=59.47;MQ0=0;QD=29.71;VQSLOD=7.0233;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4009,328,0 4 8603117 8603117 A T exonic CPZ nonsynonymous SNV CPZ:NM_003652:exon2:c.A356T:p.Q119L,CPZ:NM_001014447:exon3:c.A389T:p.Q130L 0.1 0.041 0.075 0.045 0.16 0.2 0.2072 0.0908 0.0977 0.0898 0.2548 0.2396 0.2028 0.2419 0.15 0.073 0.18 0.054 0.11 rs35993494 COSM3749890 1(thyroid);4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.002 0.080 B 0.566 0.113 N 0.999 0.482 P 0.14 0.088 N -0.97 0.757 T -0.49 0.156 N 0.047 0.037 -1.090 0.055 T 0.000 0.001 T . . . -0.644 0.048 0.098 0.813 0.131 0.109 0.161 N c -1.073 -0.996 0.747 0.233 0.707 0.730 0 0.837 0.180 0.449 0.213 1.088 0.866 0.077 0.221 0.596 0.288 4.243 0.100 Frizzled domain . . 0.1538 0.0630 0.0669 0.1047 0.0580 0.1945 0.1918 0.1477 0.2047 0.1429 0.0649 0.0742 0.1233 0.0530 0.1910 0.1897 0.1633 het 428.18 21 4 8603117 . A T 428.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.187;DP=21;Dels=0.00;FS=2.602;HRun=0;HaplotypeScore=1.9783;MQ=58.89;MQ0=0;MQRankSum=-0.112;QD=20.39;ReadPosRankSum=0.187;VQSLOD=4.3171;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,14:21:99:458,0,131 4 8616096 8616096 T C exonic CPZ synonymous SNV CPZ:NM_003652:exon8:c.T1341C:p.D447D,CPZ:NM_001014447:exon9:c.T1374C:p.D458D,CPZ:NM_001014448:exon9:c.T963C:p.D321D 0.62 0.38 0.67 0.87 0.55 0.71 0.5753 0.4187 0.7101 0.8544 0.4903 0.5195 0.5905 0.6912 0.5 0.43 0.53 0.51 0.45 rs1131140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5839 0.4130 0.7004 0.6864 0.8533 0.4758 0.5124 0.5802 0.6926 0.4982 0.4322 0.6899 0.6544 0.8455 0.4736 0.4889 0.5278 het 1460.86 119 4 8616096 . T C 1460.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DP=119;Dels=0.00;FS=2.403;HRun=0;HaplotypeScore=2.9139;MQ=59.41;MQ0=0;MQRankSum=0.184;QD=12.28;ReadPosRankSum=0.647;VQSLOD=6.5722;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,56:119:99:1491,0,1621 4 8616179 8616179 T C exonic CPZ nonsynonymous SNV CPZ:NM_003652:exon8:c.T1424C:p.I475T,CPZ:NM_001014447:exon9:c.T1457C:p.I486T,CPZ:NM_001014448:exon9:c.T1046C:p.I349T 1. 0.98 1. 1. 1. 1. 0.9984 0.9828 0.9994 1 1 1.0000 1 1 0.99 0.98 1. 1. 1. rs7378066 . . . . . . . . . . . . . 0.604 0.056 T 0.0 0.026 B 0.0 0.013 B 0.535 0.116 N 1 0.090 P -1.46 0.005 N 2.92 0.099 T 2.4 0.003 N 0.019 0.354 -1.012 0.262 T 0.000 0.000 T . . . 0.384 0.131 6.470 0.723 0.096 0.039 0.091 N c -1.226 -1.081 0.049 0.148 0.635 0.413 0 3.91 0.442 1.115 0.306 -0.400 0.062 0.000 0.063 0.009 0.108 7.092 0.243 Peptidase M14\x2c carboxypeptidase A . . 0.9988 0.9827 0.9992 1 1 1 0.9999 0.9996 1 0.9946 0.9813 0.9952 1 1 1 0.9999 1 hom 2986.32 91 4 8616179 . T C 2986.32 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;QD=32.82;VQSLOD=9.1295;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3019,235,0 4 8621194 8621194 A G exonic CPZ synonymous SNV CPZ:NM_003652:exon10:c.A1776G:p.P592P,CPZ:NM_001014447:exon11:c.A1809G:p.P603P,CPZ:NM_001014448:exon11:c.A1398G:p.P466P 1. 0.98 1. 1. 1. 1. 0.9988 0.9878 0.9992 0.9999 1 0.9999 1 0.9999 1. 0.99 1. 0.99 0.93 rs28514374 COSM4159247 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9885 0.9987 0.9999 0.9997 1 0.9999 0.9996 0.9999 0.9967 0.9887 0.9952 1 1 1 1 1 hom 1359.18 44 4 8621194 . A G 1359.18 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.89;VQSLOD=12.5577;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1392,111,0 4 9909923 9909923 G A exonic SLC2A9 nonsynonymous SNV SLC2A9:NM_020041:exon8:c.C1049T:p.P350L,SLC2A9:NM_001001290:exon9:c.C962T:p.P321L 0.27 0.028 0.41 0.2 0.48 0.36 0.4377 0.0945 0.3842 0.2383 0.5464 0.5204 0.4725 0.4162 0.38 0.1 0.52 0.22 0.46 rs2280205 COSM4999531;COSM4999530 1(pancreas) Benign Familial_renal_hypouricemia RCV000306821.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . 0.339 0.144 T 0.03 0.220 B 0.009 0.162 B 0.000 0.002 N 1 0.090 P 0.945 0.238 L -1.23 0.789 T -2.43 0.532 N 0.042 0.084 -0.994 0.316 T 0.000 0.000 T . . . 0.985 0.188 10.57 0.683 0.084 0.038 0.091 N c -0.872 -0.919 0.057 0.151 0.554 0.246 0 0.251 0.147 -0.742 0.049 -0.416 0.060 0.000 0.063 0.257 0.229 4.825 0.127 Major facilitator superfamily domain . . 0.4438 0.0875 0.3881 0.5617 0.2305 0.5403 0.5185 0.4695 0.4182 0.3822 0.0995 0.3976 0.6060 0.2043 0.5403 0.5158 0.5072 het 2083.59 190 4 9909923 . G A 2083.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.266;DP=190;Dels=0.00;FS=6.950;HRun=0;HaplotypeScore=0.8941;MQ=58.97;MQ0=0;MQRankSum=2.654;QD=10.97;ReadPosRankSum=0.357;VQSLOD=4.2347;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:111,79:190:99:2114,0,2898 4 9922167 9922167 C T exonic SLC2A9 nonsynonymous SNV SLC2A9:NM_020041:exon7:c.G844A:p.V282I,SLC2A9:NM_001001290:exon8:c.G757A:p.V253I 0.26 0.48 0.38 0.013 0.21 0.2 0.2395 0.4331 0.4007 0.0139 0.1730 0.2178 0.2167 0.2385 0.29 0.41 0.22 0.27 0.22 rs16890979 COSM3736360;COSM3736361 2(breast);1(bone);7(soft_tissue);1(skin) Benign Familial_renal_hypouricemia RCV000262922.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 Urate levels . .34 18834626 rs16890979 7E-168 0.158 0.239 T 0.693 0.397 P 0.114 0.354 B 0.000 0.523 N 0.905 0.276 P 2.08 0.576 M -0.93 0.752 T -0.47 0.152 N 0.027 0.009 -0.980 0.349 T 0.000 0.000 T . . . 1.117 0.201 11.31 0.955 0.265 0.885 0.481 D c -0.579 -0.641 0.955 0.281 0.554 0.246 0 1.61 0.226 1.762 0.378 0.013 0.140 0.890 0.310 0.049 0.163 9.693 0.391 Major facilitator superfamily domain . . 0.2436 0.4398 0.3984 0.2359 0.0156 0.1825 0.2190 0.2339 0.2428 0.2616 0.4294 0.3768 0.2483 0.0155 0.1747 0.2082 0.2076 het 2056.24 159 4 9922167 . C T 2056.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.841;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7939;MQ=59.62;MQ0=0;MQRankSum=1.342;QD=12.93;ReadPosRankSum=0.580;VQSLOD=5.9934;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,80:159:99:2086,0,1865 4 9982330 9982330 A G exonic SLC2A9 synonymous SNV SLC2A9:NM_020041:exon5:c.T567C:p.L189L,SLC2A9:NM_001001290:exon6:c.T480C:p.L160L 0.75 0.56 0.63 0.99 0.8 0.81 0.7717 0.5964 0.6062 0.9859 0.8390 0.7942 0.7985 0.7665 0.73 0.61 0.79 0.73 0.78 rs13125646 . . Benign Familial_renal_hypouricemia RCV000371270.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7656 0.5889 0.6083 0.7433 0.9843 0.8294 0.7936 0.7715 0.7611 0.7533 0.5991 0.6196 0.7351 0.9858 0.8330 0.8038 0.8014 het 1493.53 99 4 9982330 . A G 1493.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.020;DP=99;Dels=0.00;FS=2.752;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=1.670;QD=15.09;ReadPosRankSum=-1.818;VQSLOD=5.4897;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,56:99:99:1524,0,1146 4 9998440 9998440 C T exonic SLC2A9 synonymous SNV SLC2A9:NM_020041:exon3:c.G375A:p.T125T,SLC2A9:NM_001001290:exon4:c.G288A:p.T96T 0.64 0.69 0.58 0.51 0.75 0.64 0.7054 0.6829 0.6662 0.5062 0.7397 0.7497 0.6991 0.6586 0.73 0.68 0.75 0.55 0.59 rs10939650 COSM5468709;COSM149644 1(stomach);1(large_intestine) Benign Familial_renal_hypouricemia RCV000326734.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7013 0.6814 0.6638 0.6652 0.5075 0.7353 0.7534 0.7053 0.6581 0.7211 0.6892 0.6256 0.6324 0.5161 0.7476 0.7614 0.7378 het 1203.07 95 4 9998440 . C T 1203.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.463;DP=95;Dels=0.00;FS=3.123;HRun=0;HaplotypeScore=3.5215;MQ=58.92;MQ0=0;MQRankSum=-0.935;QD=12.66;ReadPosRankSum=-0.331;VQSLOD=5.6485;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,46:95:99:1233,0,1338 4 9998493 9998493 A G exonic SLC2A9 synonymous SNV SLC2A9:NM_020041:exon3:c.T322C:p.L108L,SLC2A9:NM_001001290:exon4:c.T235C:p.L79L 0.82 0.78 0.72 0.97 0.8 0.81 0.8015 0.7750 0.7714 0.9823 0.8027 0.7892 0.7919 0.7946 0.78 0.78 0.79 0.78 0.73 rs13113918 . . Benign Familial_renal_hypouricemia RCV000320934.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7978 0.7717 0.7694 0.7346 0.9806 0.7935 0.7901 0.7896 0.7922 0.8007 0.7805 0.7506 0.7318 0.9827 0.7994 0.7974 0.8004 het 1806.95 156 4 9998493 . A G 1806.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.546;DP=156;Dels=0.00;FS=10.158;HRun=0;HaplotypeScore=2.9946;MQ=58.29;MQ0=0;MQRankSum=-0.298;QD=11.58;ReadPosRankSum=-0.170;VQSLOD=4.5017;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,68:156:99:1837,0,2460 4 10022981 10022981 C T exonic SLC2A9 nonsynonymous SNV SLC2A9:NM_020041:exon1:c.G73A:p.G25R 0.41 0.15 0.44 0.42 0.53 0.6 0.5103 0.2058 0.5482 0.4246 0.5292 0.5371 0.5099 0.6051 0.43 0.22 0.54 0.33 0.39 rs2276961 COSM149645 1(stomach);1(pancreas);1(thyroid);3(large_intestine);1(biliary_tract) Benign Familial_renal_hypouricemia RCV000332816.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . 0.0 0.912 D 0.013 0.154 B 0.002 0.063 B 0.000 0.003 N 1 0.090 P 0 0.065 N -1.52 0.815 D -0.02 0.073 N 0.06 0.044 -0.985 0.339 T 0.000 0.000 T . . . 1.813 0.279 15.06 0.922 0.210 0.066 0.125 N c -1.270 -1.283 1.000 0.747 0.554 0.283 0 -0.398 0.117 -0.194 0.095 -0.856 0.029 0.000 0.063 0.000 0.016 3.668 0.077 . ENSG00000109667.7|ENSG00000109667.7|ENSG00000250413.1|ENSG00000109667.7 Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Testis 0.5160 0.2006 0.5390 0.5174 0.4259 0.5294 0.5401 0.5135 0.6015 0.4366 0.2146 0.4821 0.4934 0.4235 0.5406 0.5330 0.5337 het 2346.61 146 4 10022981 . C T 2346.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.949;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4640;MQ=59.68;MQ0=0;MQRankSum=0.493;QD=16.07;ReadPosRankSum=-1.423;VQSLOD=4.3444;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,84:146:99:2377,0,1539 4 10446385 10446385 C T exonic ZNF518B nonsynonymous SNV ZNF518B:NM_053042:exon3:c.G1568A:p.S523N 0.99 0.97 1. 1. 1. 1. 0.9974 0.9706 0.9989 1 1 1.0000 0.9989 0.9999 0.99 0.97 1. 0.97 1. rs9291410 . . . . . . . . . . . . . 0.657 0.047 T 0.0 0.026 B 0.0 0.013 B 0.260 0.037 N 1 0.090 P 0.345 0.112 N 4.84 0.015 T 0.64 0.024 N 0.007 0.000 -0.994 0.316 T 0.000 0.000 T . . . -0.892 0.036 0.027 0.138 0.003 0.014 0.047 N c -1.544 -1.464 0.148 0.174 0.707 0.730 0 1.61 0.226 0.307 0.189 -0.211 0.100 0.000 0.063 0.000 0.016 1.124 0.016 . . . 0.9980 0.9715 0.9985 1 1 1 0.9999 0.9995 1.0000 0.9911 0.9686 0.9988 1 1 1 1 0.9990 hom 3382.18 110 4 10446385 . C T 3382.18 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;QD=30.75;VQSLOD=9.0209;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3382,265,0 4 10446906 10446906 A G exonic ZNF518B synonymous SNV ZNF518B:NM_053042:exon3:c.T1047C:p.D349D 0.8 0.89 0.72 0.79 0.76 0.78 0.7507 0.8688 0.6592 0.8116 0.6807 0.7404 0.7390 0.7786 0.78 0.86 0.74 0.78 0.71 rs10016022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7434 0.8733 0.6743 0.7474 0.8133 0.6768 0.7391 0.7381 0.7784 0.7719 0.8631 0.6850 0.7351 0.8214 0.6877 0.7398 0.7541 hom 4147.52 121 4 10446906 . A G 4147.52 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7065;MQ=59.62;MQ0=0;QD=34.28;VQSLOD=9.1933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:4147,343,0 4 10447640 10447640 A G exonic ZNF518B nonsynonymous SNV ZNF518B:NM_053042:exon3:c.T313C:p.S105P 0.21 0.43 0.12 0.17 0.092 0.15 0.1254 0.3919 0.0889 0.1512 0.0550 0.0936 0.0925 0.1284 0.2 0.38 0.1 0.24 0.082 rs10016702 COSM149647 1(stomach);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.751 0.097 N 1 0.090 P -2.075 0.002 N 4.77 0.016 T -0.09 0.084 N 0.029 0.010 -1.026 0.218 T 0.000 0.000 T . . . -0.773 0.041 0.049 0.089 0.001 0.021 0.062 N c -1.249 -1.183 0.117 0.168 0.707 0.730 0 0.517 0.161 0.009 0.130 -0.411 0.061 0.000 0.063 0.178 0.212 3.572 0.074 . . . 0.1173 0.3999 0.0874 0.0598 0.1513 0.0554 0.0971 0.1052 0.1286 0.1755 0.3947 0.0979 0.0662 0.1467 0.0538 0.0912 0.0967 het 1288.25 111 4 10447640 . A G 1288.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.089;DP=111;Dels=0.00;FS=4.775;HRun=2;HaplotypeScore=0.9983;MQ=59.58;MQ0=0;MQRankSum=1.389;QD=11.61;ReadPosRankSum=1.570;VQSLOD=5.6894;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,49:111:99:1318,0,1795 4 10502937 10502937 T G exonic CLNK synonymous SNV CLNK:NM_052964:exon18:c.A1083C:p.I361I 0.99 0.96 1. 1. 1. 1. 0.9976 0.9727 0.9990 1 1 0.9999 0.9978 1 0.99 0.97 1. 0.97 . rs2903960 . . Benign not_specified RCV000454809.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9728 0.9984 1 1 1 0.9999 0.9990 1.0000 0.9929 0.9753 0.9988 1 1 1 1 0.9980 hom 2208.89 74 4 10502937 . T G 2208.89 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9905;MQ=58.64;MQ0=0;QD=29.85;VQSLOD=8.5823;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2242,172,0 4 11401012 11401012 A G exonic HS3ST1 synonymous SNV HS3ST1:NM_005114:exon2:c.T618C:p.F206F 0.25 0.32 0.19 0.18 0.2 0.32 0.2332 0.2955 0.1996 0.1870 0.2853 0.2122 0.2238 0.3057 0.24 0.29 0.21 0.24 0.25 rs1047385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2293 0.2957 0.1908 0.1728 0.1834 0.2909 0.2121 0.2098 0.3034 0.2475 0.2920 0.1878 0.1325 0.1768 0.2890 0.2250 0.2495 het 957.01 65 4 11401012 . A G 957.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.256;DP=65;Dels=0.00;FS=8.604;HRun=0;HaplotypeScore=3.7445;MQ=59.36;MQ0=0;MQRankSum=-0.190;QD=14.72;ReadPosRankSum=1.386;VQSLOD=4.5553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,34:65:99:987,0,879 4 11401087 11401087 A G exonic HS3ST1 synonymous SNV HS3ST1:NM_005114:exon2:c.T543C:p.D181D 0.25 0.32 0.19 0.19 0.2 0.32 0.2337 0.2950 0.1997 0.1903 0.2864 0.2122 0.2223 0.3081 0.24 0.29 0.21 0.24 0.25 rs1047389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2300 0.2960 0.1910 0.1727 0.1866 0.2910 0.2123 0.2098 0.3062 0.2471 0.2908 0.1878 0.1325 0.1811 0.2887 0.2248 0.2480 het 1316 124 4 11401087 . A G 1316 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.219;DP=124;Dels=0.00;FS=3.458;HRun=0;HaplotypeScore=0.9983;MQ=59.17;MQ0=0;MQRankSum=0.369;QD=10.61;ReadPosRankSum=-0.145;VQSLOD=6.5944;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,56:124:99:1346,0,1812 4 13545792 13545792 G T exonic NKX3-2 synonymous SNV NKX3-2:NM_001189:exon1:c.C247A:p.R83R 0.64 0.36 0.65 0.97 0.67 0.66 0.6860 0.4178 0.7157 0.9587 0.7677 0.6743 0.7010 0.6603 0.6 0.45 0.68 0.39 0.39 rs9684692 COSM3760379 1(liver);7(large_intestine);1(central_nervous_system) Benign not_specified RCV000173248.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6811 0.3911 0.7039 0.6130 0.9616 0.7549 0.6654 0.6673 0.6530 0.6197 0.3942 0.6815 0.6556 0.9561 0.7730 0.6687 0.6988 het 121.03 20 4 13545792 . G T 121.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.773;DP=20;Dels=0.00;FS=1.922;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;MQRankSum=0.866;QD=6.05;ReadPosRankSum=-1.361;VQSLOD=3.0784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,6:20:99:151,0,347 4 13604182 13604182 T C exonic BOD1L1 nonsynonymous SNV BOD1L1:NM_148894:exon10:c.A4342G:p.T1448A 0.13 0.14 0.21 0.003 0.15 0.18 0.1445 0.1507 0.1845 0.0010 0.0917 0.1466 0.1515 0.2003 0.15 0.15 0.15 0.13 . rs17745676 COSM3760380 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.017 0.512 D 0.009 0.139 B 0.007 0.121 B 0.012 0.292 N 1 0.090 P 1.625 0.417 L 3.19 0.074 T -1.2 0.305 N 0.041 0.021 -0.955 0.401 T 0.000 0.000 T . . . -0.459 0.058 0.277 0.838 0.144 0.178 0.198 N c -1.034 -1.024 0.995 0.337 0.722 0.854 0 2.86 0.323 -0.105 0.108 0.080 0.190 0.000 0.063 0.057 0.169 7.954 0.290 . ENSG00000246095.2|ENSG00000109705.7 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.1459 0.1506 0.1860 0.1825 0.0009 0.0926 0.1476 0.1460 0.2021 0.1299 0.1517 0.1806 0.1457 0.0006 0.0859 0.1376 0.1395 het 1331.83 94 4 13604182 . T C 1331.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.632;DP=94;Dels=0.00;FS=4.126;HRun=0;HaplotypeScore=1.8273;MQ=59.36;MQ0=0;MQRankSum=2.065;QD=14.17;ReadPosRankSum=-0.513;VQSLOD=5.7491;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,52:94:99:1362,0,978 4 13604418 13604418 G C exonic BOD1L1 nonsynonymous SNV BOD1L1:NM_148894:exon10:c.C4106G:p.A1369G 0.14 0.16 0.21 0.003 0.15 0.18 0.1459 0.1672 0.1849 0.0010 0.0916 0.1465 0.1512 0.2001 0.15 0.16 0.15 0.14 . rs17745712 COSM3760381 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.290 0.148 N 1 0.090 P -2.24 0.001 N 3.23 0.070 T 0.87 0.017 N 0.017 0.003 -0.921 0.454 T 0.000 0.000 T . . . -0.960 0.034 0.019 0.062 0.000 0.016 0.052 N c -1.341 -1.251 0.991 0.324 0.707 0.730 0 2.24 0.271 -0.151 0.101 -0.397 0.063 0.002 0.151 0.078 0.180 5.425 0.156 . ENSG00000246095.2|ENSG00000109705.7 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.1470 0.1671 0.1865 0.1826 0.0009 0.0925 0.1475 0.1469 0.2018 0.1345 0.1679 0.1862 0.1457 0.0006 0.0856 0.1376 0.1395 het 2343.72 149 4 13604418 . G C 2343.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.067;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=58.56;MQ0=0;MQRankSum=0.052;QD=15.73;ReadPosRankSum=-1.378;VQSLOD=5.9637;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,86:149:99:2374,0,1663 4 13606576 13606576 A T exonic BOD1L1 nonsynonymous SNV BOD1L1:NM_148894:exon10:c.T1948A:p.L650I 0.72 0.3 0.85 0.97 0.81 0.86 0.8074 0.3762 0.8996 0.9635 0.8497 0.8187 0.8433 0.8677 0.66 0.37 0.81 0.69 . rs1971278 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.420 0.046 N 1 0.090 P -1.7 0.004 N 3.31 0.063 T 0.7 0.022 N 0.016 0.003 -1.025 0.221 T 0.000 0.000 T . . . -2.724 0.002 0.001 0.164 0.004 0.010 0.037 N c -1.989 -1.923 0.666 0.223 0.719 0.830 0 -3.2 0.048 -0.097 0.109 -0.676 0.039 0.004 0.165 0.959 0.439 11.233 0.480 . . . 0.8187 0.3710 0.8907 0.8173 0.9648 0.8517 0.8159 0.8148 0.8684 0.7061 0.3805 0.8628 0.8344 0.9549 0.8591 0.8134 0.8316 hom 3596.29 114 4 13606576 . A T 3596.29 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8245;MQ=59.39;MQ0=0;QD=31.55;VQSLOD=9.1624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:114:99:3596,286,0 4 13615174 13615174 G A exonic BOD1L1 nonsynonymous SNV BOD1L1:NM_148894:exon5:c.C1286T:p.T429M 0.14 0.16 0.21 0.003 0.15 0.18 0.1455 0.1626 0.1844 0.0012 0.0906 0.1464 0.1515 0.2010 0.15 0.16 0.15 0.13 . rs2035820 COSM3760382 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.253 0.155 N 1 0.090 P -0.895 0.014 N 3.31 0.063 T 1.6 0.007 N 0.036 0.016 -0.928 0.444 T 0.000 0.000 T . . . -0.033 0.091 2.280 0.048 0.000 0.129 0.174 N c -1.009 -0.780 1.000 0.517 0.707 0.730 0 3.99 0.454 2.376 0.437 -0.240 0.092 0.968 0.339 0.989 0.536 9.655 0.389 . ENSG00000246095.2|ENSG00000109705.7 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.1463 0.1623 0.1857 0.1808 0.0010 0.0915 0.1471 0.1459 0.2022 0.1340 0.1667 0.1850 0.1457 0.0006 0.0849 0.1374 0.1391 het 1767.19 162 4 13615174 . G A 1767.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.302;DP=162;Dels=0.00;FS=4.711;HRun=0;HaplotypeScore=3.8776;MQ=58.69;MQ0=0;MQRankSum=1.285;QD=10.91;ReadPosRankSum=-0.329;VQSLOD=5.2502;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,73:162:99:1797,0,2201 4 15538666 15538666 G A exonic CC2D2A synonymous SNV CC2D2A:NM_001080522:exon16:c.G1731A:p.S577S 0.0002 . . . 0.001 . 0.0001 0.0001 8.758e-05 0 0 0.0002 0 0.0001 0.0001 0.0003 . . . rs376746356 . . Uncertain significance|Uncertain significance|Uncertain significance|Likely benign CC2D2A-Related_Disorders|Meckel-Gruber_syndrome|Joubert_syndrome|not_specified RCV000310945.1|RCV000352257.1|RCV000394900.1|RCV000431421.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen CN239313|C0265215:ORPHA564:29076005|C0431399:ORPHA475:253175003:716997004|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.545e-05 0.0003 0 0 0 0.0002 0.0002 6.507e-05 0.0001 0 0 0 0 0 0.0003 0 het 1060.56 83 4 15538666 . G A 1060.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.401;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.13;MQ0=0;MQRankSum=1.426;QD=12.78;ReadPosRankSum=0.014;VQSLOD=4.7629;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:1091,0,1017 4 15937731 15937731 T C exonic FGFBP1 synonymous SNV FGFBP1:NM_005130:exon3:c.A525G:p.K175K 0.91 0.88 0.96 0.82 0.97 0.97 0.9540 0.9013 0.9829 0.8277 0.9837 0.9652 0.9604 0.9754 0.94 0.9 0.96 0.94 0.98 rs2072313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9567 0.9009 0.9822 0.9758 0.8244 0.9851 0.9640 0.9664 0.9758 0.9437 0.9065 0.9773 0.9868 0.8078 0.9837 0.9670 0.9582 hom 4453.54 129 4 15937731 . T C 4453.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.302;DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2677;MQ=58.92;MQ0=0;MQRankSum=-1.652;QD=34.52;ReadPosRankSum=1.652;VQSLOD=7.0065;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,128:129:99:4420,322,0 4 15964485 15964485 G A exonic FGFBP2 nonsynonymous SNV FGFBP2:NM_031950:exon1:c.C268T:p.P90S 0.34 0.22 0.3 0.5 0.47 0.22 0.4032 0.2367 0.2756 0.4943 0.4621 0.4561 0.4107 0.2741 0.39 0.24 0.46 0.38 0.58 rs758329 COSM447553 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.353 0.122 T 0.126 0.253 B 0.042 0.227 B 0.386 0.133 U 1 0.090 P 0.345 0.112 N 2.66 0.126 T 0.98 0.015 N 0.073 0.062 -0.972 0.367 T 0.000 0.000 T . . . -0.653 0.047 0.093 0.804 0.127 0.288 0.234 N c -1.202 -1.160 0.999 0.377 0.487 0.133 0 1.08 0.194 0.796 0.265 -1.013 0.021 0.980 0.350 0.129 0.199 5.932 0.183 . ENSG00000137441.7|ENSG00000137441.7|ENSG00000137441.7 Heart_Left_Ventricle|Nerve_Tibial|Testis 0.3944 0.2300 0.2897 0.3335 0.4948 0.4752 0.4592 0.4123 0.2617 0.3946 0.2371 0.2902 0.3543 0.5223 0.4576 0.4616 0.4418 het 1409.97 105 4 15964485 . G A 1409.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.548;DP=105;Dels=0.00;FS=2.536;HRun=0;HaplotypeScore=1.7333;MQ=59.56;MQ0=0;MQRankSum=-0.389;QD=13.43;ReadPosRankSum=1.682;VQSLOD=6.3008;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,57:105:99:1440,0,1358 4 15964501 15964501 G A exonic FGFBP2 synonymous SNV FGFBP2:NM_031950:exon1:c.C252T:p.F84F 0.51 0.31 0.65 0.44 0.52 0.74 0.5513 0.3641 0.7014 0.4483 0.5377 0.5377 0.5735 0.7182 0.48 0.38 0.53 0.38 0.35 rs2286459 COSM3760460 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5598 0.3577 0.6828 0.6468 0.4445 0.5275 0.5345 0.5573 0.7065 0.4810 0.3537 0.6659 0.6258 0.4168 0.5418 0.5313 0.5296 het 1265.71 101 4 15964501 . G A 1265.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.959;DP=101;Dels=0.00;FS=0.761;HRun=3;HaplotypeScore=0.8941;MQ=59.54;MQ0=0;MQRankSum=-0.242;QD=12.53;ReadPosRankSum=-1.456;VQSLOD=6.4371;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,46:101:99:1296,0,1291 4 15964573 15964573 A G exonic FGFBP2 synonymous SNV FGFBP2:NM_031950:exon1:c.T180C:p.R60R 0.92 0.73 0.97 1. 1. 1. 0.9773 0.7614 0.9885 0.9998 0.9998 0.9984 0.9879 0.9990 0.92 0.77 1. 0.85 0.94 rs758328 COSM4158889 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9812 0.7492 0.9865 0.9991 0.9999 0.9997 0.9983 0.9879 0.9992 0.9304 0.7604 0.9749 1 1 0.9994 0.9980 0.9878 hom 3543.98 115 4 15964573 . A G 3543.98 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=30.82;VQSLOD=9.0631;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3543,298,0 4 15964670 15964670 C T exonic FGFBP2 nonsynonymous SNV FGFBP2:NM_031950:exon1:c.G83A:p.S28N 0.12 0.079 0.13 0.085 0.15 0.17 0.1427 0.1005 0.0792 0.0799 0.1836 0.1583 0.1693 0.1665 0.13 0.097 0.15 0.087 0.11 rs35496730 COSM3760462 1(large_intestine) . . . . . . . . . . . 0.197 0.206 T 0.001 0.067 B 0.006 0.112 B 0.584 0.055 U 1 0.090 P 0.695 0.181 N 2.37 0.160 T -0.17 0.096 N 0.008 0.000 -0.961 0.390 T 0.000 0.000 T . . . -1.249 0.024 0.005 0.526 0.047 0.030 0.078 N c -1.523 -1.584 0.999 0.380 0.526 0.212 0 -2.08 0.068 0.026 0.134 -0.899 0.026 0.190 0.240 0.030 0.147 3.579 0.074 . . . 0.1383 0.0997 0.0775 0.1500 0.0789 0.1783 0.1546 0.1476 0.1635 0.1454 0.1017 0.0769 0.1433 0.0729 0.1828 0.1731 0.1564 het 1456.93 125 4 15964670 . C T 1456.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.923;DP=125;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6988;MQ=59.67;MQ0=0;MQRankSum=-0.830;QD=11.66;ReadPosRankSum=1.266;VQSLOD=5.4185;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,57:125:99:1487,0,1860 4 16020162 16020162 C T exonic PROM1 synonymous SNV PROM1:NM_001145851:exon7:c.G759A:p.A253A,PROM1:NM_001145852:exon7:c.G759A:p.A253A,PROM1:NM_001145847:exon8:c.G759A:p.A253A,PROM1:NM_001145848:exon8:c.G759A:p.A253A,PROM1:NM_001145849:exon8:c.G786A:p.A262A,PROM1:NM_001145850:exon8:c.G786A:p.A262A,PROM1:NM_006017:exon8:c.G786A:p.A262A 0.14 0.026 0.16 0.24 0.094 0.21 0.1736 0.0550 0.2811 0.2952 0.1522 0.1492 0.1480 0.2167 0.084 0.042 0.1 0.098 . rs2286455 COSM4417263;COSM4417262 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Cone-Rod_Dystrophy\x2c_Dominant|Retinitis_Pigmentosa\x2c_Recessive|Stargardt_Disease\x2c_Dominant|Retinal_Macular_Dystrophy RCV000250373.1|RCV000279196.1|RCV000336486.1|RCV000375986.1|RCV000379416.1 MedGen|MedGen|MedGen|MedGen|MedGen CN169374|CN239348|CN239466|CN239307|CN239469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1429 0.0431 0.2028 0.1306 0.2473 0.1186 0.1148 0.1295 0.1925 0.1076 0.0438 0.1878 0.1589 0.2376 0.1212 0.1222 0.1049 het 253.47 20 4 16020162 . C T 253.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.928;DP=20;Dels=0.00;FS=2.271;HRun=1;HaplotypeScore=3.1093;MQ=58.84;MQ0=0;MQRankSum=1.021;QD=12.67;ReadPosRankSum=-0.567;VQSLOD=6.2897;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:283,0,236 4 17517099 17517099 A G exonic CLRN2 synonymous SNV CLRN2:NM_001079827:exon1:c.A210G:p.K70K 0.98 0.94 0.99 1. 1. 1. 0.9942 0.9340 0.9969 1 1 0.9999 0.9978 0.9998 0.98 0.94 1. 0.98 . rs1551091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9952 0.9330 0.9966 1 1 1 0.9999 0.9978 0.9998 0.9804 0.9312 0.9964 0.9967 1 1 0.9999 0.9980 hom 2308.49 74 4 17517099 . A G 2308.49 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8279;MQ=59.50;MQ0=0;QD=31.20;VQSLOD=8.8653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2341,178,0 4 17586703 17586703 T C exonic LAP3 synonymous SNV LAP3:NM_015907:exon6:c.T648C:p.A216A 0.76 0.84 0.76 0.9 0.66 0.63 0.7088 0.8170 0.8473 0.9343 0.7269 0.6546 0.6876 0.6381 0.7 0.82 0.63 0.76 0.67 rs3733576 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7077 0.8156 0.8352 0.5355 0.9298 0.7256 0.6520 0.6771 0.6401 0.7273 0.8153 0.7936 0.5967 0.9327 0.7426 0.6520 0.6851 het 1541.95 149 4 17586703 . T C 1541.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.093;DP=149;Dels=0.00;FS=3.935;HRun=1;HaplotypeScore=0.9916;MQ=59.72;MQ0=0;MQRankSum=1.307;QD=10.35;ReadPosRankSum=0.506;VQSLOD=6.2087;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,67:149:99:1572,0,2317 4 17818885 17818885 T C exonic NCAPG synonymous SNV NCAPG:NM_022346:exon6:c.T777C:p.D259D 0.35 0.1 0.46 0.22 0.6 0.47 0.5024 0.1684 0.4666 0.2034 0.5896 0.5837 0.5443 0.5312 0.44 0.17 0.58 0.29 0.47 rs2302212 COSM1428600 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5033 0.1600 0.4666 0.5243 0.2026 0.5967 0.5824 0.5380 0.5175 0.4480 0.1670 0.4618 0.53 0.2092 0.6090 0.5899 0.5602 het 1404.81 120 4 17818885 . T C 1404.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.128;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9142;MQ=58.71;MQ0=0;MQRankSum=0.423;QD=11.71;ReadPosRankSum=0.534;VQSLOD=6.4144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,56:120:99:1435,0,1610 4 17829990 17829990 G C exonic NCAPG nonsynonymous SNV NCAPG:NM_022346:exon12:c.G1743C:p.M581I 0.14 0.088 0.12 0.16 0.09 0.26 0.1288 0.0856 0.1041 0.1362 0.0542 0.1214 0.1148 0.2304 0.12 0.088 0.13 0.13 0.16 rs3795243 . . . . . . . . . . . . . 0.761 0.110 T 0.015 0.158 B 0.02 0.179 B 0.000 0.843 D 0.055 0.375 P 1.03 0.257 L 1.2 0.374 T -0.7 0.199 N 0.059 0.043 -1.053 0.136 T 0.001 0.002 T . . . 1.033 0.193 10.85 0.505 0.043 0.916 0.536 D c -0.328 -0.149 1.000 0.517 0.732 0.924 0 5.01 0.663 3.256 0.509 0.902 0.416 1.000 0.715 0.949 0.424 7.943 0.290 Armadillo-type fold|Nuclear condensin complex subunit 3\x2c C-terminal domain;Nuclear condensin complex subunit 3\x2c C-terminal domain ENSG00000109805.5 Testis 0.1290 0.0847 0.1095 0.2211 0.1344 0.0542 0.1198 0.1265 0.2278 0.1046 0.0953 0.1172 0.2185 0.1434 0.0562 0.1145 0.0982 het 1436.07 135 4 17829990 . G C 1436.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.011;DP=135;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=3.7672;MQ=58.92;MQ0=0;MQRankSum=0.586;QD=10.64;ReadPosRankSum=-0.845;VQSLOD=5.8820;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,57:135:99:1466,0,1996 4 22439914 22439914 A C exonic ADGRA3 synonymous SNV ADGRA3:NM_145290:exon8:c.T1050G:p.P350P 0.55 0.26 0.64 0.62 0.75 0.6 0.6781 0.3453 0.7050 0.6525 0.7434 0.7376 0.6751 0.6158 0.6 0.35 0.74 0.49 0.76 rs6823735 COSM5446643;COSM5446644 1(breast);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6873 0.3381 0.7051 0.7617 0.6469 0.7477 0.7373 0.7000 0.6134 0.6152 0.3435 0.6957 0.7152 0.6270 0.7456 0.7301 0.6892 hom 5404.10 195 4 22439914 . A C 5404.10 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.99;MQ0=6;QD=27.71;VQSLOD=6.6317;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,192:195:99:5403,424,0 4 22820504 22820504 A T exonic GBA3 unknown UNKNOWN 0.89 0.97 0.89 0.8 0.85 0.92 0.8653 0.9626 0.8957 0.7789 0.8457 0.8489 0.8563 0.9051 0.88 0.96 0.85 0.91 . rs358231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.671 0.158 8.637 0.743 0.103 0.122 0.169 N n 0.767 -0.029 0.000 0.035 0.487 0.133 0 2.03 0.256 0.285 0.185 -0.670 0.040 0.995 0.385 0.771 0.327 4.741 0.123 . . . 0.8638 0.9631 0.8963 0.8279 0.7760 0.8415 0.8511 0.8460 0.9044 0.8841 0.9583 0.8717 0.8609 0.7815 0.8436 0.8637 0.8646 het 555.09 51 4 22820504 . A T 555.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.689;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.18;MQ0=0;MQRankSum=-0.028;QD=10.88;ReadPosRankSum=0.104;VQSLOD=6.7446;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,24:51:99:585,0,703 4 23814707 23814707 G A exonic PPARGC1A nonsynonymous SNV PPARGC1A:NM_001330753:exon8:c.C1454T:p.T485M,PPARGC1A:NM_013261:exon9:c.C1835T:p.T612M,PPARGC1A:NM_001330752:exon10:c.C1799T:p.T600M,PPARGC1A:NM_001330751:exon11:c.C1850T:p.T617M 0.11 0.063 0.11 0.17 0.067 0.15 0.0828 0.0585 0.1059 0.1818 0.1033 0.0569 0.1112 0.1249 0.057 0.062 0.054 0.098 0.082 rs3736265 COSM4986633 3(soft_tissue) . . . . . . . . . . . 0.028 0.461 D 0.0 0.026 B 0.0 0.013 B 0.045 0.236 N 1 0.090 P 0.895 0.225 L 0.96 0.429 T -1.01 0.266 N 0.035 0.015 -1.076 0.082 T 0.000 0.000 T . . . 1.409 0.232 12.83 0.980 0.368 0.114 0.165 N c -0.650 -0.613 0.140 0.173 0.554 0.283 0 1.74 0.235 1.510 0.352 0.135 0.219 0.006 0.172 0.978 0.483 5.315 0.151 . . . 0.0859 0.0595 0.0988 0.0851 0.1846 0.1086 0.0546 0.0903 0.1267 0.0721 0.0611 0.0895 0.0497 0.1771 0.1062 0.0582 0.0827 het 2968.45 240 4 23814707 . G A 2968.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.859;DP=240;DS;Dels=0.00;FS=5.279;HRun=0;HaplotypeScore=6.5077;MQ=59.02;MQ0=0;MQRankSum=-0.064;QD=12.37;ReadPosRankSum=-0.044;VQSLOD=4.9219;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,112:240:99:2998,0,3169 4 23815522 23815522 C T exonic PPARGC1A synonymous SNV PPARGC1A:NM_001330753:exon7:c.G1203A:p.T401T,PPARGC1A:NM_013261:exon8:c.G1584A:p.T528T,PPARGC1A:NM_001330752:exon9:c.G1548A:p.T516T,PPARGC1A:NM_001330751:exon10:c.G1599A:p.T533T 0.35 0.24 0.33 0.45 0.43 0.34 0.3720 0.2391 0.3106 0.4342 0.3295 0.4101 0.3855 0.3284 0.35 0.24 0.41 0.46 0.29 rs3755863 COSM1429208 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3703 0.2328 0.3213 0.4848 0.4263 0.3325 0.4036 0.3955 0.3276 0.3323 0.2401 0.3258 0.4567 0.4384 0.3332 0.3705 0.3592 het 2371.91 169 4 23815522 . C T 2371.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.209;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7287;MQ=59.45;MQ0=0;MQRankSum=0.036;QD=14.03;ReadPosRankSum=1.211;VQSLOD=6.5089;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,89:169:99:2402,0,2134 4 23815662 23815662 C T exonic PPARGC1A nonsynonymous SNV PPARGC1A:NM_001330753:exon7:c.G1063A:p.G355S,PPARGC1A:NM_013261:exon8:c.G1444A:p.G482S,PPARGC1A:NM_001330752:exon9:c.G1408A:p.G470S,PPARGC1A:NM_001330751:exon10:c.G1459A:p.G487S 0.27 0.045 0.26 0.44 0.36 0.29 0.3081 0.0883 0.2469 0.4328 0.2949 0.3472 0.3190 0.2708 0.26 0.1 0.35 0.32 0.22 rs8192678 COSM3760554 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.053 0.211 B 0.004 0.093 B 0.000 0.491 N 1.000 0.210 P -1.32 0.007 N 2.09 0.201 T 1.04 0.013 N 0.024 0.007 -0.944 0.421 T 0.000 0.000 T . . . 1.401 0.232 12.79 0.385 0.026 0.042 0.096 N c -0.679 -0.374 0.975 0.295 0.554 0.283 0 6.02 0.975 2.212 0.422 0.154 0.240 1.000 0.715 1.000 0.888 10.887 0.460 . . . 0.3089 0.0842 0.2591 0.3695 0.4260 0.2981 0.3444 0.3221 0.2678 0.2574 0.0964 0.2685 0.3333 0.4337 0.2997 0.3175 0.2998 het 2824.59 176 4 23815662 . C T 2824.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.273;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3582;MQ=59.31;MQ0=0;MQRankSum=-1.059;QD=16.05;ReadPosRankSum=0.036;VQSLOD=5.7597;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,99:176:99:2855,0,1971 4 23815924 23815924 T C exonic PPARGC1A synonymous SNV PPARGC1A:NM_001330753:exon7:c.A801G:p.T267T,PPARGC1A:NM_013261:exon8:c.A1182G:p.T394T,PPARGC1A:NM_001330752:exon9:c.A1146G:p.T382T,PPARGC1A:NM_001330751:exon10:c.A1197G:p.T399T 0.88 0.99 0.9 0.78 0.82 0.87 0.8365 0.9647 0.9147 0.7709 0.8401 0.8079 0.8282 0.8502 0.85 0.96 0.8 0.92 0.74 rs2970847 COSM3760555 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8371 0.9661 0.9117 0.8780 0.7701 0.8395 0.7993 0.8503 0.8481 0.8549 0.9620 0.8986 0.8245 0.7724 0.8330 0.8063 0.8292 hom 3040.31 97 4 23815924 . T C 3040.31 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=31.34;VQSLOD=9.4875;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3073,253,0 4 24801315 24801315 G A exonic SOD3 nonsynonymous SNV SOD3:NM_003102:exon2:c.G172A:p.A58T 0.4 0.14 0.46 0.36 0.63 0.52 0.6032 0.2624 0.4783 0.4010 0.7971 0.6856 0.6064 0.5351 0.53 0.26 0.66 0.3 0.24 rs2536512 COSM3749868 3(thyroid);6(large_intestine) . . . . . . . . . . . 0.702 0.041 T 0.188 0.276 B 0.009 0.133 B 0.413 0.130 N 1 0.090 P 1.87 0.498 L 0.86 0.468 T 0.25 0.045 N 0.024 0.007 -0.939 0.429 T 0.000 0.000 T . . . -0.755 0.042 0.054 0.893 0.181 0.048 0.104 N c -1.194 -1.245 0.991 0.324 0.726 0.872 0 -1.33 0.086 -2.060 0.015 -1.262 0.014 0.000 0.063 0.000 0.016 2.362 0.040 Superoxide dismutase\x2c copper/zinc binding domain ENSG00000109610.5 Esophagus_Mucosa 0.5525 0.1909 0.4054 0.6123 0.3290 0.7456 0.6614 0.5664 0.5235 0.5141 0.2052 0.4031 0.6026 0.3300 0.7378 0.6611 0.5951 het 64.20 14 4 24801315 . G A 64.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.636;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.495;QD=4.59;ReadPosRankSum=-1.061;VQSLOD=9.3156;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,4:14:94.19:94,0,281 4 25005193 25005193 G A exonic LGI2 synonymous SNV LGI2:NM_018176:exon8:c.C1518T:p.Y506Y 0.77 0.91 0.65 0.97 0.46 0.75 0.6006 0.8549 0.6749 0.9735 0.5785 0.4734 0.5927 0.7159 0.59 0.84 0.46 0.78 0.39 rs2232028 COSM3760557 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5963 0.8625 0.6628 0.4745 0.9697 0.5837 0.4654 0.5493 0.7125 0.6257 0.8489 0.6420 0.4735 0.9575 0.5814 0.4759 0.5704 het 1042.59 69 4 25005193 . G A 1042.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.063;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;MQRankSum=2.120;QD=15.11;ReadPosRankSum=0.409;VQSLOD=5.9182;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,41:69:99:1073,0,652 4 25125703 25125703 C G exonic SEPSECS nonsynonymous SNV SEPSECS:NM_016955:exon11:c.G1356C:p.K452N 0.11 0.16 0.11 0.11 0.057 0.11 0.0668 0.1439 0.0805 0.1224 0.0446 0.0443 0.0695 0.0791 0.077 0.14 0.046 0.098 0.041 rs2302566 COSM5002050;COSM5002049 1(pancreas) Benign|Likely benign not_specified|Pontoneocerebellar_hypoplasia RCV000118326.2|RCV000284502.1 MedGen|MedGen:SNOMED_CT CN169374|C1261175:373666002 . . . . . . 0.177 0.222 T 0.963 0.657 D 0.777 0.630 P 0.000 0.843 D 0.000 0.530 P 2.67 0.784 M -1.64 0.825 D -1.19 0.303 N 0.054 0.036 -0.825 0.536 T 0.008 0.028 T . . . 2.389 0.348 18.75 0.996 0.769 0.845 0.433 D c 0.110 0.050 0.409 0.202 0.707 0.730 0 1.05 0.192 1.064 0.300 0.039 0.154 1.000 0.715 0.993 0.574 2.888 0.053 Pyridoxal phosphate-dependent transferase . . 0.0658 0.1458 0.0718 0.0352 0.1273 0.0496 0.0457 0.0670 0.0791 0.0769 0.1406 0.0718 0.0265 0.1104 0.0426 0.0463 0.0633 het 1091.42 92 4 25125703 . C G 1091.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DP=92;Dels=0.00;FS=3.993;HRun=0;HaplotypeScore=2.5564;MQ=59.19;MQ0=0;MQRankSum=1.554;QD=11.86;ReadPosRankSum=-0.601;VQSLOD=5.6538;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,44:92:99:1121,0,1191 4 25253995 25253995 C T exonic PI4K2B synonymous SNV PI4K2B:NM_018323:exon2:c.C321T:p.A107A 0.79 0.8 0.82 0.68 0.84 0.82 0.8272 0.8018 0.8239 0.6995 0.8725 0.8466 0.8227 0.8159 0.83 0.81 0.84 0.77 0.86 rs313567 COSM4159011 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8254 0.7992 0.8141 0.8465 0.7033 0.8664 0.8436 0.8283 0.8160 0.8269 0.8097 0.8002 0.8510 0.7048 0.8586 0.8425 0.8442 hom 3206.43 100 4 25253995 . C T 3206.43 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.06;VQSLOD=9.8482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3239,247,0 4 25363901 25363901 T A exonic ZCCHC4 nonsynonymous SNV ZCCHC4:NM_024936:exon10:c.T1187A:p.L396H 0.88 0.99 0.88 0.74 0.89 0.84 0.8744 0.9796 0.8300 0.7653 0.9188 0.8876 0.8653 0.8299 0.92 0.98 0.89 0.9 0.88 rs315675 . . . . . . . . . . . . . 0.16 0.237 T 0.0 0.026 B 0.0 0.013 B 0.024 0.264 N 1.000 0.090 P -1.145 0.009 N 1.64 0.278 T 0.64 0.024 N 0.067 0.415 -0.978 0.354 T 0.000 0.000 T . . . 2.887 0.408 21.8 0.893 0.181 0.230 0.217 N c -0.537 -0.274 0.368 0.198 0.706 0.609 0 4.7 0.586 1.868 0.389 0.242 0.267 0.999 0.424 0.965 0.450 8.458 0.319 Zinc finger\x2c DHHC-type\x2c palmitoyltransferase ENSG00000053900.6|ENSG00000053900.6|ENSG00000053900.6|ENSG00000053900.6 Adipose_Subcutaneous|Brain_Cerebellum|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.8734 0.9808 0.8364 0.8617 0.7713 0.9200 0.8881 0.8831 0.8318 0.9071 0.9773 0.8496 0.8411 0.7475 0.9125 0.8881 0.8849 hom 3083.12 115 4 25363901 . T A 3083.12 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9323;MQ=58.98;MQ0=0;QD=26.81;VQSLOD=7.1622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3116,238,0 4 25417109 25417109 T A exonic ANAPC4 synonymous SNV ANAPC4:NM_001286756:exon26:c.T1851A:p.I617I,ANAPC4:NM_013367:exon26:c.T1848A:p.I616I 0.081 0.0053 0.1 0.11 0.067 0.15 0.0729 0.0117 0.0768 0.1035 0.0449 0.0680 0.0703 0.1241 0.049 0.013 0.068 0.065 0.049 rs3214035 COSM5008428 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0711 0.0107 0.0698 0.0702 0.1057 0.0468 0.0654 0.0741 0.1210 0.0493 0.0129 0.0622 0.0762 0.0980 0.0421 0.0647 0.0654 het 695.29 51 4 25417109 . T A 695.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.330;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.84;MQ0=0;MQRankSum=0.670;QD=13.63;ReadPosRankSum=0.009;VQSLOD=5.9738;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,27:51:99:725,0,616 4 25419283 25419283 T C exonic ANAPC4 synonymous SNV ANAPC4:NM_001286756:exon28:c.T2124C:p.F708F,ANAPC4:NM_013367:exon28:c.T2121C:p.F707F 0.5 0.62 0.55 0.31 0.6 0.42 0.5540 0.6169 0.5419 0.3131 0.6775 0.5964 0.5341 0.4289 0.6 0.62 0.59 0.58 0.65 rs9174 COSM149658 1(breast);3(haematopoietic_and_lymphoid_tissue);1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5515 0.6163 0.5393 0.6213 0.3099 0.6754 0.5855 0.5735 0.4283 0.5883 0.6266 0.5525 0.6060 0.3155 0.6544 0.5807 0.6022 het 2860.69 235 4 25419283 . T C 2860.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.297;DP=235;DS;Dels=0.00;FS=0.481;HRun=0;HaplotypeScore=5.5040;MQ=59.28;MQ0=0;MQRankSum=-1.165;QD=12.17;ReadPosRankSum=-1.217;VQSLOD=4.6824;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,120:235:99:2891,0,3303 4 25806319 25806319 C T exonic SEL1L3 synonymous SNV SEL1L3:NM_001297592:exon10:c.G1515A:p.K505K,SEL1L3:NM_001297594:exon10:c.G1161A:p.K387K,SEL1L3:NM_015187:exon10:c.G1620A:p.K540K 0.018 0.0015 0.014 0.019 0.032 0.03 0.0246 0.0047 0.0110 0.0249 0.0154 0.0293 0.0201 0.0304 0.023 0.0054 0.03 . . rs34954596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0243 0.0046 0.0125 0.0329 0.0263 0.0137 0.0301 0.0224 0.0303 0.0199 0.0072 0.0143 0.0364 0.0370 0.0143 0.0263 0.0245 het 925.08 67 4 25806319 . C T 925.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.660;DP=67;Dels=0.00;FS=0.942;HRun=2;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=1.402;QD=13.81;ReadPosRankSum=0.371;VQSLOD=5.4229;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,36:67:99:955,0,706 4 26417136 26417136 T C exonic RBPJ synonymous SNV RBPJ:NM_015874:exon4:c.T195C:p.S65S,RBPJ:NM_203283:exon4:c.T189C:p.S63S,RBPJ:NM_005349:exon5:c.T234C:p.S78S,RBPJ:NM_203284:exon5:c.T192C:p.S64S 0.51 0.33 0.68 0.53 0.56 0.56 0.5620 0.3633 0.7285 0.5498 0.5765 0.5643 0.5881 0.5576 0.5 0.37 0.56 0.46 0.41 rs2270226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5721 0.3624 0.7142 0.5226 0.5453 0.5811 0.5684 0.5862 0.5572 0.5091 0.3611 0.6785 0.5203 0.5381 0.5606 0.5743 0.5358 het 2271.86 189 4 26417136 . T C 2271.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.194;DP=189;Dels=0.00;FS=4.941;HRun=0;HaplotypeScore=4.7861;MQ=58.84;MQ0=0;MQRankSum=-0.768;QD=12.02;ReadPosRankSum=0.569;VQSLOD=4.1235;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:102,86:189:99:2302,0,2666 4 26585881 26585881 C T exonic TBC1D19 synonymous SNV TBC1D19:NM_001292054:exon1:c.C66T:p.S22S,TBC1D19:NM_018317:exon1:c.C66T:p.S22S 0.31 0.17 0.28 0.36 0.39 0.4 0.3917 0.2233 0.3463 0.3664 0.3912 0.4205 0.3850 0.4167 0.34 0.22 0.41 0.25 0.34 rs4692549 COSM3760560 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3677 0.1977 0.3037 0.3923 0.3469 0.3541 0.4079 0.3694 0.3895 0.3391 0.2096 0.3177 0.4272 0.3524 0.3527 0.4079 0.3619 het 501.38 37 4 26585881 . C T 501.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DP=37;Dels=0.00;FS=2.870;HRun=0;HaplotypeScore=1.7262;MQ=58.23;MQ0=0;MQRankSum=1.570;QD=13.55;ReadPosRankSum=-0.747;VQSLOD=5.3754;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,20:37:99:531,0,395 4 27004011 27004011 G A exonic STIM2 synonymous SNV STIM2:NM_001169117:exon6:c.G798A:p.Q266Q,STIM2:NM_001169118:exon6:c.G798A:p.Q266Q,STIM2:NM_020860:exon6:c.G798A:p.Q266Q 0.98 0.94 0.97 1. 0.99 1. 0.9884 0.9372 0.9871 1 0.9959 0.9924 0.9834 0.9967 0.97 0.94 0.99 0.97 0.97 rs10028164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9893 0.9382 0.9872 0.9965 1 0.9968 0.9916 0.9857 0.9970 0.9752 0.9324 0.9868 0.9934 1 0.9954 0.9907 0.9888 hom 2427.81 82 4 27004011 . G A 2427.81 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=29.61;VQSLOD=8.9322;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,81:82:99:2461,184,0 4 36069805 36069805 G A exonic ARAP2 synonymous SNV ARAP2:NM_015230:exon33:c.C4839T:p.A1613A 0.16 0.02 0.21 0.091 0.28 0.24 0.2409 0.0654 0.1626 0.0732 0.1552 0.3057 0.2379 0.2672 0.24 0.071 0.32 0.16 0.31 rs7657166 COSM3760594 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2392 0.0584 0.1678 0.3143 0.0749 0.1510 0.3143 0.2554 0.2649 0.1979 0.0635 0.1990 0.3133 0.0643 0.1576 0.2951 0.2352 het 1963 144 4 36069805 . G A 1963 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.539;DP=144;Dels=0.00;FS=7.635;HRun=0;HaplotypeScore=1.7608;MQ=59.52;MQ0=0;MQRankSum=1.528;QD=13.63;ReadPosRankSum=-0.148;VQSLOD=4.5039;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,75:144:99:1993,0,1818 4 36081878 36081878 C T exonic ARAP2 nonsynonymous SNV ARAP2:NM_015230:exon31:c.G4568A:p.R1523Q 1. 1. 0.99 1. 0.99 1. 0.9922 0.9981 0.9958 1 0.9951 0.9893 0.9912 0.9922 0.99 1. 0.99 0.99 0.99 rs4833069 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.009 0.304 N 1.000 0.195 P -2.2 0.001 N -0.88 0.747 T 1.38 0.009 N 0.036 0.016 -0.926 0.447 T 0.000 0.000 T . . . 0.628 0.154 8.350 0.267 0.013 0.025 0.070 N c -1.416 -1.121 0.017 0.129 0.706 0.609 0 4.53 0.548 2.267 0.427 -0.387 0.064 0.990 0.367 0.950 0.426 11.504 0.495 PH domain-like|Pleckstrin homology domain . . 0.9921 0.9981 0.9958 0.9945 1 0.9956 0.9882 0.9908 0.9920 0.9943 0.9984 0.9940 0.9868 1 0.9937 0.9917 0.9939 hom 2526.02 88 4 36081878 . C T 2526.02 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.35;MQ0=0;QD=28.70;VQSLOD=8.3728;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2559,193,0 4 36152584 36152584 G T exonic ARAP2 synonymous SNV ARAP2:NM_015230:exon16:c.C2835A:p.T945T 0.055 0.086 0.046 . 0.093 0.036 0.0745 0.0881 0.0349 0.0001 0.0540 0.0985 0.0617 0.0445 0.097 0.093 0.099 0.087 0.13 rs13148785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0730 0.0894 0.0414 0.1016 0.0003 0.0511 0.1013 0.0826 0.0422 0.0878 0.0961 0.0561 0.0828 0 0.0513 0.1033 0.0804 het 1858.51 139 4 36152584 . G T 1858.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.673;DP=139;Dels=0.00;FS=2.276;HRun=1;HaplotypeScore=3.8814;MQ=59.52;MQ0=0;MQRankSum=-0.318;QD=13.37;ReadPosRankSum=-0.095;VQSLOD=6.0976;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,72:139:99:1889,0,1749 4 37903756 37903756 T C exonic TBC1D1 nonsynonymous SNV TBC1D1:NM_001253912:exon2:c.T40C:p.S14P,TBC1D1:NM_015173:exon2:c.T40C:p.S14P 0.7 0.88 0.59 0.66 0.61 0.69 0.6248 0.8472 0.5314 0.6424 0.6885 0.5912 0.6220 0.6510 0.68 0.84 0.59 0.69 0.59 rs2279027 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1 0.090 P -1.79 0.003 N 2.56 0.137 T 0.85 0.018 N 0.028 0.016 -0.984 0.340 T 0.000 0.000 T . . . -0.738 0.043 0.059 0.082 0.001 0.002 0.011 N c -1.233 -1.073 1.000 0.517 0.707 0.730 0 4.9 0.635 0.247 0.178 0.040 0.155 0.014 0.188 0.388 0.252 10.365 0.430 PH domain-like ENSG00000065882.11 Pancreas 0.6177 0.8475 0.5407 0.5590 0.6474 0.6828 0.5915 0.6242 0.6329 0.6667 0.8400 0.5692 0.59 0.6022 0.6691 0.5812 0.6360 hom 7096.22 223 4 37903756 . T C 7096.22 Mask AC=2;AF=1.00;AN=2;DP=223;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5785;MQ=59.40;MQ0=0;QD=31.82;VQSLOD=8.5096;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:7095,551,0 4 37962186 37962186 G C exonic PTTG2 nonsynonymous SNV PTTG2:NM_006607:exon1:c.G131C:p.R44P 0.73 0.7 0.7 0.96 0.57 0.72 0.6413 0.7163 0.7785 0.9572 0.5917 0.5625 0.6289 0.6721 0.61 0.7 0.56 0.69 . rs6811863 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -2.265 0.001 N 1.17 0.379 T 5.1 0.000 N 0.046 0.026 -0.934 0.436 T 0.000 0.000 T . . . -0.301 0.068 0.662 0.413 0.030 0.000 0.002 N c -2.230 -2.191 1.000 0.424 0.706 0.609 0 -4.04 0.037 -0.237 0.089 -0.240 0.092 0.183 0.239 0.006 0.095 1.388 0.021 . ENSG00000227325.1|ENSG00000250254.1 Colon_Sigmoid|Colon_Sigmoid 0.6452 0.7142 0.7657 0.6283 0.9564 0.5960 0.5569 0.6203 0.6706 0.6369 0.7089 0.7326 0.6060 0.9641 0.5879 0.5689 0.6002 het 1495.68 96 4 37962186 . G C 1495.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.045;DP=96;Dels=0.00;FS=2.729;HRun=1;HaplotypeScore=2.8413;MQ=59.42;MQ0=0;MQRankSum=0.808;QD=15.58;ReadPosRankSum=1.175;VQSLOD=5.3987;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,51:96:99:1526,0,1170 4 38016395 38016395 T G exonic TBC1D1 nonsynonymous SNV TBC1D1:NM_001253912:exon3:c.T683G:p.V228G,TBC1D1:NM_015173:exon3:c.T683G:p.V228G 0.58 0.64 0.49 0.71 0.43 0.58 0.4825 0.6398 0.4888 0.6994 0.4397 0.4222 0.4728 0.5267 0.48 0.59 0.42 0.48 0.13 rs10501 COSM447822 1(thyroid);2(large_intestine) . . . . . . . . . . . 0.403 0.106 T 0.0 0.026 B 0.0 0.013 B 0.261 0.153 N 1 0.090 P -0.55 0.024 N 3.65 0.171 T 1.09 0.015 N 0.023 0.086 -1.055 0.129 T 0.000 0.000 T . . . -0.684 0.046 0.078 0.223 0.009 0.003 0.016 N c -1.228 -1.197 1.000 0.409 0.732 0.924 0 0.314 0.150 1.408 0.341 -0.376 0.066 0.142 0.233 0.000 0.016 4.072 0.093 PTB/PI domain . . 0.4769 0.6347 0.4766 0.4871 0.6861 0.4393 0.4162 0.4699 0.5228 0.4825 0.6223 0.4833 0.4833 0.6791 0.4346 0.3954 0.4199 het 102.52 25 4 38016395 . T G 102.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.050;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=-0.286;QD=4.10;ReadPosRankSum=0.095;VQSLOD=5.0418;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,6:25:99:133,0,569 4 38023302 38023302 C G exonic TBC1D1 synonymous SNV TBC1D1:NM_001253912:exon6:c.C1173G:p.P391P,TBC1D1:NM_015173:exon6:c.C1173G:p.P391P 0.19 0.0061 0.17 0.4 0.15 0.26 0.2160 0.0309 0.2604 0.4300 0.1834 0.1998 0.2024 0.2557 0.11 0.028 0.15 0.16 0.066 rs34119528 COSM3760604 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1689 0.0239 0.1882 0.1946 0.3664 0.1312 0.1507 0.1594 0.2045 0.1302 0.0279 0.2029 0.2219 0.3864 0.1351 0.1530 0.1612 het 206.64 22 4 38023302 . C G 206.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.200;DP=22;Dels=0.00;FS=4.246;HRun=0;HaplotypeScore=0.9987;MQ=60.00;MQ0=0;MQRankSum=2.070;QD=9.39;ReadPosRankSum=1.202;VQSLOD=4.7640;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,9:22:99:237,0,394 4 38051499 38051499 A G exonic TBC1D1 synonymous SNV TBC1D1:NM_001253912:exon11:c.A1890G:p.T630T,TBC1D1:NM_015173:exon11:c.A1890G:p.T630T 0.0026 . 0.0043 . 0.0099 . 0.0030 0.0006 0.0037 0 0.0008 0.0046 0.0023 0 0.0038 0.0014 0.005 0.011 0.0082 rs140029744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0008 0.0044 0.0017 0 0.0009 0.0051 0.0039 0 0.0029 0.0019 0.0048 0.0033 0 0.0009 0.0044 0 het 1570.75 109 4 38051499 . A G 1570.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.350;DP=109;Dels=0.00;FS=1.576;HRun=1;HaplotypeScore=2.9656;MQ=59.54;MQ0=0;MQRankSum=-0.303;QD=14.41;ReadPosRankSum=0.070;VQSLOD=4.8014;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,62:109:99:1601,0,1112 4 38829163 38829163 A C exonic TLR6 synonymous SNV TLR6:NM_006068:exon2:c.T1932G:p.A644A 0.09 0.042 0.088 0.0089 0.24 0.08 0.1929 0.0722 0.0732 0.0119 0.3631 0.2607 0.2181 0.1036 0.21 0.081 0.27 0.065 0.23 rs5743818 COSM3760610 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1933 0.0701 0.0764 0.1831 0.0125 0.3564 0.2658 0.1969 0.1049 0.2286 0.0755 0.1217 0.1589 0.0160 0.3625 0.3145 0.2653 het 2259.83 160 4 38829163 . A C 2259.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.197;DP=160;Dels=0.00;FS=0.586;HRun=0;HaplotypeScore=0.9973;MQ=59.62;MQ0=0;MQRankSum=-0.171;QD=14.12;ReadPosRankSum=0.896;VQSLOD=6.6235;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,85:160:99:2290,0,1934 4 38829832 38829832 T C exonic TLR6 synonymous SNV TLR6:NM_006068:exon2:c.A1263G:p.K421K 0.46 0.74 0.32 0.4 0.31 0.39 0.3793 0.6721 0.3190 0.3766 0.4169 0.3417 0.4108 0.3742 0.45 0.66 0.34 0.46 0.33 rs3775073 COSM3760611 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3717 0.6753 0.3231 0.3341 0.3821 0.4114 0.3380 0.3516 0.3767 0.4618 0.6692 0.3663 0.3278 0.3984 0.4135 0.3719 0.3898 het 2507.79 188 4 38829832 . T C 2507.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DP=188;Dels=0.00;FS=2.534;HRun=1;HaplotypeScore=3.9924;MQ=58.93;MQ0=0;MQRankSum=-0.280;QD=13.34;ReadPosRankSum=-0.106;VQSLOD=5.9257;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,94:188:99:2538,0,2351 4 38830012 38830012 G C exonic TLR6 synonymous SNV TLR6:NM_006068:exon2:c.C1083G:p.T361T 0.44 0.69 0.31 0.4 0.31 0.39 0.3766 0.6401 0.3176 0.3774 0.4169 0.3418 0.4104 0.3743 0.44 0.63 0.34 0.43 0.33 rs3821985 COSM3760612 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3693 0.6440 0.3215 0.3337 0.3821 0.4116 0.3377 0.3505 0.3765 0.4546 0.6437 0.3652 0.3278 0.3976 0.4134 0.3724 0.3837 het 928.96 80 4 38830012 . G C 928.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.300;DP=80;Dels=0.00;FS=0.888;HRun=0;HaplotypeScore=1.9459;MQ=59.53;MQ0=0;MQRankSum=-0.454;QD=11.61;ReadPosRankSum=-2.007;VQSLOD=5.6920;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,37:80:99:959,0,1153 4 38830350 38830350 A G exonic TLR6 nonsynonymous SNV TLR6:NM_006068:exon2:c.T745C:p.S249P 0.88 0.98 0.82 1. 0.59 0.98 0.7392 0.9324 0.8705 1 0.5218 0.6161 0.7555 0.9725 0.69 0.92 0.58 0.92 0.51 rs5743810 COSM3760613 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.453 0.089 T 0.0 0.026 B 0.0 0.013 B 0.197 0.167 N 1 0.090 P -1.31 0.007 N 2.49 0.145 T 1.12 0.012 N 0.05 0.031 -1.001 0.296 T 0.000 0.000 T . . . -1.313 0.022 0.004 0.619 0.066 0.013 0.045 N c -1.362 -1.232 0.348 0.196 0.707 0.730 0 3.52 0.393 0.928 0.282 -0.836 0.030 0.015 0.189 0.677 0.304 4.921 0.131 Leucine-rich repeat domain\x2c L domain-like ENSG00000197712.7|ENSG00000174130.8|ENSG00000197712.7|ENSG00000197712.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.7278 0.9348 0.8563 0.7041 1 0.5188 0.5962 0.7081 0.9722 0.7116 0.9248 0.8373 0.73 0.9988 0.5183 0.5970 0.6680 het 537.65 36 4 38830350 . A G 537.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.276;DP=36;Dels=0.00;FS=1.258;HRun=1;HaplotypeScore=2.9874;MQ=57.36;MQ0=0;MQRankSum=0.175;QD=14.93;ReadPosRankSum=0.016;VQSLOD=4.6433;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,20:36:99:568,0,429 4 38879949 38879949 G A exonic FAM114A1 nonsynonymous SNV FAM114A1:NM_001350632:exon2:c.G250A:p.G84R,FAM114A1:NM_001350635:exon2:c.G250A:p.G84R,FAM114A1:NM_138389:exon3:c.G250A:p.G84R 0.2 0.32 0.21 0.086 0.25 0.12 0.2480 0.3103 0.2864 0.0842 0.3630 0.2668 0.2638 0.1448 0.29 0.31 0.27 0.13 0.22 rs11096964 COSM3760614 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.123 0.323 T 0.09 0.236 B 0.018 0.173 B 0.002 0.375 N 0.948 0.369 P 0.59 0.155 N 1.73 0.264 T -7.05 0.938 D 0.221 0.271 -0.941 0.425 T 0.000 0.000 T . . . 1.825 0.280 15.13 0.972 0.322 0.611 0.311 D c -0.490 -0.467 0.955 0.281 0.706 0.609 0 1.88 0.245 1.759 0.378 0.998 0.613 0.983 0.354 0.973 0.468 5.853 0.178 . ENSG00000174130.8|ENSG00000197712.7|ENSG00000174130.8 Esophagus_Mucosa|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.2499 0.3116 0.2726 0.2236 0.0873 0.3578 0.2693 0.2483 0.1465 0.3080 0.3154 0.2661 0.2053 0.0914 0.3645 0.3188 0.3010 het 1828.31 154 4 38879949 . G A 1828.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.076;DP=154;Dels=0.00;FS=2.996;HRun=0;HaplotypeScore=6.1896;MQ=59.16;MQ0=0;MQRankSum=0.540;QD=11.87;ReadPosRankSum=-1.754;VQSLOD=4.6071;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:82,71:154:99:1858,0,2243 4 38880046 38880046 T C exonic FAM114A1 nonsynonymous SNV FAM114A1:NM_001350632:exon2:c.T347C:p.L116P,FAM114A1:NM_001350635:exon2:c.T347C:p.L116P,FAM114A1:NM_138389:exon3:c.T347C:p.L116P 0.2 0.32 0.21 0.086 0.25 0.12 0.2547 0.3130 0.2871 0.0851 0.3627 0.2685 0.2775 0.1480 0.28 0.31 0.27 0.14 0.22 rs11555334 COSM3760615 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.94 0.116 T 0.0 0.026 B 0.0 0.013 B 0.570 0.055 N 1.000 0.498 P -0.75 0.017 N 1.94 0.227 T 2.47 0.018 N 0.337 0.398 -0.931 0.440 T 0.000 0.000 T . . . -1.083 0.029 0.011 0.082 0.001 0.001 0.007 N c -1.902 -1.967 1.000 0.747 0.707 0.730 0 -9.46 0.005 -1.885 0.017 -1.522 0.010 0.000 0.063 0.009 0.108 7.574 0.269 . ENSG00000174130.8|ENSG00000197712.7|ENSG00000174130.8 Esophagus_Mucosa|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.2497 0.3124 0.2706 0.2195 0.0878 0.3539 0.2682 0.2528 0.1422 0.3075 0.3147 0.2661 0.2053 0.0915 0.3640 0.3183 0.3024 het 1563.72 123 4 38880046 . T C 1563.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.667;DP=123;Dels=0.00;FS=1.625;HRun=1;HaplotypeScore=4.4037;MQ=59.31;MQ0=0;MQRankSum=0.827;QD=12.71;ReadPosRankSum=0.673;VQSLOD=6.0019;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,68:123:99:1594,0,1435 4 38930921 38930921 A G exonic FAM114A1 synonymous SNV FAM114A1:NM_001350631:exon8:c.A507G:p.L169L,FAM114A1:NM_001350633:exon8:c.A747G:p.L249L,FAM114A1:NM_001350634:exon8:c.A534G:p.L178L,FAM114A1:NM_001330764:exon9:c.A507G:p.L169L,FAM114A1:NM_001350632:exon9:c.A1122G:p.L374L,FAM114A1:NM_138389:exon10:c.A1128G:p.L376L 0.056 0.032 0.068 0.001 0.14 0.047 0.1046 0.0515 0.0458 0.0007 0.1211 0.1462 0.0969 0.0595 0.13 0.058 0.16 0.011 0.11 rs3188469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1032 0.0491 0.0476 0.0778 0.0007 0.1150 0.1544 0.1098 0.0607 0.1131 0.0518 0.0811 0.0728 0.0012 0.1142 0.1624 0.1268 het 1806.60 142 4 38930921 . A G 1806.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.499;DP=142;Dels=0.00;FS=5.137;HRun=0;HaplotypeScore=5.9869;MQ=58.66;MQ0=0;MQRankSum=0.617;QD=12.72;ReadPosRankSum=-0.774;VQSLOD=4.6043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,74:142:99:1837,0,1626 4 38933859 38933859 G A exonic FAM114A1 nonsynonymous SNV FAM114A1:NM_001350631:exon10:c.G706A:p.V236I,FAM114A1:NM_001350633:exon10:c.G946A:p.V316I,FAM114A1:NM_001350634:exon10:c.G733A:p.V245I,FAM114A1:NM_001330764:exon11:c.G706A:p.V236I,FAM114A1:NM_001350632:exon11:c.G1321A:p.V441I,FAM114A1:NM_138389:exon12:c.G1327A:p.V443I 0.11 0.051 0.2 0.076 0.16 0.11 0.1652 0.0725 0.3448 0.1008 0.1603 0.1662 0.16 0.1270 0.14 0.078 0.18 0.033 0.11 rs17429619 COSM4159057 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.012 0.151 B 0.007 0.121 B 0.002 0.370 N 0.004 0.429 P 0.34 0.105 N 2.14 0.194 T 0.31 0.040 N 0.012 0.012 -0.982 0.347 T 0.000 0.000 T . . . 1.103 0.200 11.23 0.146 0.003 0.866 0.457 D c -0.535 -0.356 0.874 0.255 0.706 0.609 0 4.38 0.519 1.578 0.359 1.048 0.713 0.996 0.391 0.971 0.463 3.702 0.079 . ENSG00000197712.7|ENSG00000197712.7|ENSG00000197712.7 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.1665 0.0708 0.3136 0.1144 0.0967 0.1531 0.1702 0.1707 0.1196 0.1440 0.0714 0.3005 0.1093 0.1045 0.1537 0.1786 0.1701 het 996.53 75 4 38933859 . G A 996.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.011;DP=75;Dels=0.00;FS=1.972;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.492;QD=13.29;ReadPosRankSum=-1.492;VQSLOD=5.8625;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:1027,0,852 4 38937372 38937372 T C exonic FAM114A1 synonymous SNV FAM114A1:NM_001350631:exon11:c.T876C:p.S292S,FAM114A1:NM_001350633:exon11:c.T1116C:p.S372S,FAM114A1:NM_001350634:exon11:c.T903C:p.S301S,FAM114A1:NM_001330764:exon12:c.T876C:p.S292S,FAM114A1:NM_001350632:exon12:c.T1491C:p.S497S,FAM114A1:NM_138389:exon13:c.T1497C:p.S499S 0.72 0.89 0.69 0.69 0.59 0.7 0.6564 0.8490 0.7483 0.6698 0.5228 0.6018 0.6674 0.7374 0.68 0.84 0.6 0.7 0.61 rs2271031 COSM4003075 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6495 0.8492 0.7329 0.6717 0.6694 0.5211 0.5930 0.6450 0.7405 0.6742 0.8483 0.7225 0.6556 0.6671 0.5163 0.6107 0.6255 het 916.25 86 4 38937372 . T C 916.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.349;DP=86;Dels=0.00;FS=1.840;HRun=1;HaplotypeScore=3.9229;MQ=58.80;MQ0=0;MQRankSum=2.041;QD=10.65;ReadPosRankSum=0.916;VQSLOD=5.5302;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,37:86:99:946,0,1306 4 38987965 38987965 C T exonic TMEM156 nonsynonymous SNV TMEM156:NM_001303228:exon5:c.G814A:p.V272I,TMEM156:NM_024943:exon5:c.G814A:p.V272I 0.015 0.0045 0.022 . 0.048 0.0072 0.0324 0.0101 0.0143 0 0.0265 0.0485 0.0265 0.0137 0.037 0.0079 0.052 0.043 0.025 rs75988651 . . . . . . . . . . . . . 0.042 0.416 D 0.998 0.715 D 0.941 0.659 D 0.007 0.314 N 0.995 0.427 D 0.805 0.203 L 1.69 0.270 T -0.63 0.185 N 0.099 0.101 -1.197 0.002 T 0.025 0.107 T . . . 3.989 0.537 23.6 0.992 0.536 0.802 0.396 D c 0.325 0.240 1.000 0.747 0.714 0.819 0 5.08 0.682 3.315 0.514 0.935 0.490 0.888 0.309 0.242 0.226 14.166 0.649 . ENSG00000163682.11|ENSG00000163682.11 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.0320 0.0084 0.0153 0.0277 0 0.0281 0.0510 0.0365 0.0143 0.0321 0.0088 0.0191 0.0099 0 0.0246 0.0513 0.0438 het 715.17 56 4 38987965 . C T 715.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.436;DP=56;Dels=0.00;FS=2.258;HRun=0;HaplotypeScore=3.5213;MQ=58.58;MQ0=0;MQRankSum=-0.290;QD=12.77;ReadPosRankSum=0.025;VQSLOD=5.5760;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,32:56:99:745,0,680 4 38995374 38995374 T C exonic TMEM156 synonymous SNV TMEM156:NM_001303228:exon3:c.A603G:p.L201L,TMEM156:NM_024943:exon3:c.A603G:p.L201L 0.93 0.99 0.91 0.95 0.84 0.91 0.8753 0.9750 0.9389 0.9563 0.7806 0.8405 0.8598 0.9049 0.89 0.97 0.84 0.94 0.79 rs10212770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8730 0.9773 0.9356 0.8039 0.9533 0.7829 0.8418 0.8660 0.9093 0.8801 0.9722 0.9296 0.7980 0.9512 0.7821 0.8437 0.8327 hom 3587.89 109 4 38995374 . T C 3587.89 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9321;MQ=58.91;MQ0=0;QD=32.92;VQSLOD=9.6254;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3588,274,0 4 39000305 39000305 A G exonic TMEM156 nonsynonymous SNV TMEM156:NM_001303228:exon2:c.T313C:p.S105P,TMEM156:NM_024943:exon2:c.T313C:p.S105P 0.28 0.11 0.25 0.42 0.28 0.36 0.2914 0.1511 0.2375 0.4839 0.2356 0.2883 0.2796 0.3481 0.23 0.14 0.28 0.22 0.27 rs11542133 COSM4419183 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.057 0.379 T 0.04 0.198 B 0.043 0.229 B 0.000 0.491 N 0.155 0.351 P 1.79 0.469 L 1.18 0.377 T -3.61 0.694 D 0.152 0.181 -0.964 0.385 T 0.000 0.000 T . . . 2.638 0.378 20.4 0.992 0.555 0.842 0.429 D c -0.204 -0.119 0.001 0.075 0.707 0.730 0 3.54 0.395 2.214 0.423 1.199 0.960 0.992 0.373 0.121 0.196 6.195 0.196 . . . 0.2723 0.1383 0.2172 0.3252 0.4730 0.2277 0.2645 0.2673 0.3320 0.2298 0.1404 0.2464 0.3146 0.4541 0.2222 0.2559 0.2439 het 335.25 43 4 39000305 . A G 335.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.664;DP=43;Dels=0.00;FS=5.089;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.056;QD=7.80;ReadPosRankSum=-0.112;VQSLOD=4.8829;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,17:43:99:365,0,702 4 39064162 39064162 A C exonic KLHL5 nonsynonymous SNV KLHL5:NM_015990:exon1:c.A28C:p.I10L,KLHL5:NM_199039:exon1:c.A28C:p.I10L 0.74 0.61 0.79 0.83 0.75 0.77 0.7502 0.6431 0.7862 0.8352 0.7669 0.7471 0.7627 0.7529 0.71 0.65 0.75 0.67 0.75 rs2711941 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.180 0.171 N 1.000 0.588 P 0 0.065 N -0.41 0.708 T 0.02 0.072 N 0.029 0.019 -0.940 0.427 T 0.000 0.000 T . . . 0.905 0.180 10.11 0.701 0.089 0.287 0.234 N c -0.759 -0.537 1.000 0.517 0.693 0.562 0 3.13 0.349 1.121 0.307 -1.045 0.020 1.000 0.715 0.880 0.369 4.554 0.114 . ENSG00000109790.12|ENSG00000249207.1|ENSG00000109790.12|ENSG00000249207.1|ENSG00000109790.12|ENSG00000109790.12|ENSG00000249685.1|ENSG00000157796.13 Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.7527 0.6400 0.7809 0.7893 0.8318 0.7630 0.7435 0.7538 0.7475 0.7398 0.6523 0.7554 0.7715 0.8383 0.7749 0.7678 0.7755 het 2107.99 156 4 39064162 . A C 2107.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.388;DP=156;Dels=0.00;FS=6.659;HRun=0;HaplotypeScore=2.9895;MQ=59.04;MQ0=0;MQRankSum=1.039;QD=13.51;ReadPosRankSum=0.656;VQSLOD=5.1426;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,79:156:99:2138,0,1871 4 39116911 39116911 T C exonic KLHL5 synonymous SNV KLHL5:NM_199039:exon9:c.T1989C:p.T663T,KLHL5:NM_001171654:exon10:c.T1611C:p.T537T,KLHL5:NM_015990:exon10:c.T2172C:p.T724T,KLHL5:NM_001007075:exon11:c.T2034C:p.T678T 0.49 0.34 0.6 0.49 0.58 0.53 0.5592 0.3901 0.6471 0.5042 0.5812 0.5848 0.5826 0.5196 0.52 0.39 0.59 0.56 0.63 rs3733276 COSM3760616;COSM3760618;COSM3760617 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5640 0.3899 0.6470 0.4982 0.4924 0.5767 0.5912 0.5667 0.5134 0.5325 0.3869 0.6193 0.48 0.4844 0.5901 0.6016 0.5885 het 579.58 54 4 39116911 . T C 579.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.315;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9973;MQ=59.14;MQ0=0;MQRankSum=-0.634;QD=10.73;ReadPosRankSum=-0.170;VQSLOD=6.5533;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,24:54:99:610,0,799 4 39207318 39207318 A G exonic WDR19 synonymous SNV WDR19:NM_001317924:exon8:c.A372G:p.S124S,WDR19:NM_025132:exon9:c.A852G:p.S284S 0.12 0.0053 0.15 0.15 0.16 0.2 0.1864 0.0280 0.2220 0.1746 0.1946 0.1882 0.1748 0.2547 0.11 0.025 0.15 0.11 . rs17584431 COSM4003077 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Jeune_thoracic_dystrophy|Cranioectodermal_dysplasia RCV000252308.1|RCV000263260.1|RCV000357935.1 MedGen|MedGen:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0265275:75049004|CN119432:254093009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1585 0.0226 0.1700 0.1228 0.1462 0.1738 0.1554 0.1440 0.2345 0.1163 0.0293 0.1790 0.1325 0.1302 0.1628 0.1490 0.1426 het 455.93 32 4 39207318 . A G 455.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.381;QD=14.25;ReadPosRankSum=-0.153;VQSLOD=11.9498;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,19:32:99:486,0,299 4 39216221 39216221 C T exonic WDR19 synonymous SNV WDR19:NM_001317924:exon9:c.C411T:p.C137C,WDR19:NM_025132:exon10:c.C891T:p.C297C 0.26 0.3 0.24 0.16 0.32 0.26 0.2935 0.3031 0.2427 0.1596 0.2919 0.3172 0.2905 0.2986 0.3 0.29 0.31 0.24 . rs2167494 . . Benign|Benign|Benign not_specified|Jeune_thoracic_dystrophy|Cranioectodermal_dysplasia RCV000242684.1|RCV000299540.1|RCV000354362.1 MedGen|MedGen:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0265275:75049004|CN119432:254093009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2866 0.2938 0.2366 0.2915 0.1580 0.2963 0.3125 0.2870 0.2981 0.2887 0.3029 0.2854 0.3013 0.1473 0.2817 0.2966 0.2977 het 506.25 39 4 39216221 . C T 506.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.789;DP=39;Dels=0.00;FS=1.495;HRun=0;HaplotypeScore=1.5983;MQ=60.00;MQ0=0;MQRankSum=-1.338;QD=12.98;ReadPosRankSum=1.254;VQSLOD=5.5979;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,21:39:99:536,0,493 4 39302029 39302029 T C exonic RFC1 synonymous SNV RFC1:NM_001204747:exon20:c.A2544G:p.P848P,RFC1:NM_002913:exon20:c.A2541G:p.P847P 0.47 0.055 0.61 0.63 0.55 0.66 0.5511 0.1362 0.6630 0.6623 0.5593 0.5665 0.5657 0.6069 0.42 0.15 0.57 0.42 0.57 rs2066786 COSM3760619 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5595 0.1283 0.6605 0.5328 0.6560 0.5505 0.5677 0.5612 0.5946 0.4539 0.1328 0.6139 0.56 0.6638 0.5629 0.5747 0.5541 het 1148.17 88 4 39302029 . T C 1148.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.825;DP=88;Dels=0.00;FS=0.869;HRun=0;HaplotypeScore=2.9104;MQ=58.76;MQ0=0;MQRankSum=-0.214;QD=13.05;ReadPosRankSum=-0.582;VQSLOD=6.3039;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,48:88:99:1178,0,1097 4 39448542 39448542 C G exonic KLB synonymous SNV KLB:NM_175737:exon4:c.C2196G:p.P732P 0.77 0.72 0.85 0.72 0.75 0.83 0.7650 0.7229 0.8275 0.7289 0.7008 0.7630 0.7606 0.7977 0.75 0.72 0.77 0.66 0.68 rs7685429 COSM3760621 1(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7680 0.7185 0.8277 0.7415 0.7330 0.7049 0.7667 0.7681 0.7945 0.7326 0.7150 0.8194 0.7483 0.7645 0.6990 0.7419 0.7346 het 1072.08 92 4 39448542 . C G 1072.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.500;DP=92;Dels=0.00;FS=1.839;HRun=0;HaplotypeScore=0.5784;MQ=59.55;MQ0=0;MQRankSum=-0.333;QD=11.65;ReadPosRankSum=0.137;VQSLOD=6.0580;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,42:92:99:1102,0,1412 4 39450229 39450229 C A exonic KLB nonsynonymous SNV KLB:NM_175737:exon5:c.C3058A:p.Q1020K 0.33 0.12 0.4 0.38 0.32 0.51 0.3430 0.1445 0.4546 0.3925 0.3746 0.3220 0.3370 0.4361 0.27 0.16 0.32 0.24 0.28 rs4975017 . . . . . . . . . . . . . 1.0 0.010 T 0.049 0.208 B 0.01 0.139 B 0.761 0.096 N 1 0.090 P 0.95 0.239 L 1.81 0.252 T 0.26 0.044 N 0.055 0.037 -0.916 0.461 T 0.000 0.000 T . . . -1.147 0.027 0.008 0.118 0.002 0.350 0.250 N c -0.915 -0.782 1.000 0.747 0.498 0.195 0 2.81 0.318 1.296 0.328 0.892 0.403 0.931 0.321 0.152 0.205 5.233 0.147 . ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000134962.6|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000163682.11|ENSG00000121897.9|ENSG00000163682.11|ENSG00000224097.5|ENSG00000163682.11|ENSG00000163682.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.3504 0.1406 0.4570 0.2263 0.3895 0.3690 0.3271 0.3155 0.4334 0.2881 0.1499 0.4217 0.2649 0.4135 0.3742 0.3244 0.3446 het 1368.09 112 4 39450229 . C A 1368.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.599;DP=112;Dels=0.00;FS=4.793;HRun=1;HaplotypeScore=1.7845;MQ=59.61;MQ0=0;MQRankSum=-0.402;QD=12.22;ReadPosRankSum=1.083;VQSLOD=5.9568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1398,0,1611 4 39458051 39458051 A G exonic RPL9 synonymous SNV RPL9:NM_000661:exon5:c.T366C:p.Y122Y,RPL9:NM_001024921:exon5:c.T366C:p.Y122Y 0.69 0.53 0.81 0.72 0.68 0.82 0.7029 0.5461 0.7985 0.7257 0.6487 0.6930 0.7108 0.7817 0.65 0.55 0.7 0.56 0.65 rs2125313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7086 0.5407 0.7944 0.6960 0.7313 0.6503 0.6959 0.7029 0.7788 0.6469 0.5534 0.7888 0.7185 0.7640 0.6499 0.6766 0.6786 het 546.57 37 4 39458051 . A G 546.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.847;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=51.94;MQ0=0;MQRankSum=-1.575;QD=14.77;ReadPosRankSum=0.111;VQSLOD=4.2272;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,24:37:99:577,0,361 4 39510264 39510264 A G exonic UGDH synonymous SNV UGDH:NM_001184700:exon6:c.T627C:p.C209C,UGDH:NM_001184701:exon6:c.T537C:p.C179C,UGDH:NM_003359:exon7:c.T828C:p.C276C 0.3 0.52 0.17 0.41 0.1 0.17 0.1721 0.4713 0.1908 0.3980 0.0953 0.1068 0.1540 0.1496 0.22 0.46 0.099 0.32 0.09 rs1129052 COSM4415346 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1564 0.4597 0.1685 0.1574 0.3806 0.0936 0.0992 0.1592 0.1397 0.2203 0.4542 0.1635 0.1589 0.3914 0.0999 0.1036 0.1486 het 324 35 4 39510264 . A G 324 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.187;DP=35;Dels=0.00;FS=1.735;HRun=0;HaplotypeScore=4.5747;MQ=56.96;MQ0=0;MQRankSum=0.565;QD=9.26;ReadPosRankSum=-0.783;VQSLOD=4.0213;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,14:35:99:354,0,508 4 39515736 39515736 A G exonic UGDH synonymous SNV UGDH:NM_001184700:exon3:c.T231C:p.D77D,UGDH:NM_003359:exon3:c.T231C:p.D77D 0.29 0.48 0.16 0.41 0.1 0.17 0.1689 0.4400 0.1887 0.3986 0.0951 0.1061 0.1523 0.1512 0.21 0.43 0.099 0.32 0.082 rs10019532 COSM4415021 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1625 0.4400 0.1802 0.1609 0.4011 0.0938 0.1019 0.1650 0.1507 0.2130 0.4268 0.1611 0.1567 0.3978 0.0999 0.1039 0.1462 het 1310.29 119 4 39515736 . A G 1310.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.799;DP=119;Dels=0.00;FS=0.694;HRun=0;HaplotypeScore=0.9469;MQ=55.91;MQ0=0;MQRankSum=-1.717;QD=11.01;ReadPosRankSum=0.221;VQSLOD=2.6611;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,60:119:99:1340,0,1433 4 39921942 39921942 A G exonic PDS5A synonymous SNV PDS5A:NM_001100399:exon7:c.T732C:p.A244A,PDS5A:NM_001100400:exon7:c.T732C:p.A244A 0.4 0.14 0.29 0.66 0.41 0.53 0.4186 0.1732 0.3088 0.6717 0.4078 0.4097 0.4239 0.5479 0.34 0.17 0.41 0.36 . rs28449663 COSM1485953;COSM447842 1(breast);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4100 0.1629 0.2961 0.3941 0.6585 0.4207 0.4053 0.3951 0.5433 0.3482 0.1719 0.3230 0.4073 0.6363 0.4154 0.4016 0.3926 hom 1558.22 55 4 39921942 . A G 1558.22 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7880;MQ=59.12;MQ0=0;QD=28.33;VQSLOD=7.6465;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1591,117,0 4 40121562 40121562 G A exonic N4BP2 nonsynonymous SNV N4BP2:NM_018177:exon9:c.G1831A:p.D611N,N4BP2:NM_001318359:exon10:c.G1591A:p.D531N 0.82 0.68 0.85 0.97 0.76 0.93 0.8107 0.6896 0.9002 0.9661 0.7861 0.7723 0.8079 0.9319 0.75 0.69 0.77 0.74 0.6 rs794001 COSM447847 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.265 0.152 N 1 0.090 P -2.125 0.001 N 2.32 0.166 T 1.01 0.014 N 0.01 0.028 -1.018 0.244 T 0.000 0.000 T . . . 0.613 0.152 8.244 0.288 0.015 0.002 0.013 N c -0.828 -0.747 0.657 0.222 0.554 0.283 0 0.469 0.159 0.913 0.280 0.244 0.267 0.255 0.247 0.842 0.351 2.233 0.037 . . . 0.8098 0.6831 0.8850 0.7739 0.9665 0.7934 0.7674 0.7962 0.9282 0.7668 0.6810 0.8687 0.7649 0.9672 0.8057 0.7794 0.7837 hom 2782.12 95 4 40121562 . G A 2782.12 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=29.29;VQSLOD=8.9888;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2815,214,0 4 40337523 40337523 C T exonic CHRNA9 synonymous SNV CHRNA9:NM_017581:exon1:c.C39T:p.I13I 0.22 0.3 0.25 0.05 0.27 0.2 0.2425 0.2862 0.1927 0.0502 0.2514 0.2844 0.2610 0.1763 0.3 0.29 0.3 0.22 0.36 rs56241474 COSM1178492 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2419 0.2919 0.1972 0.2161 0.0508 0.2502 0.2960 0.2564 0.1760 0.2758 0.2929 0.1897 0.2351 0.0610 0.2510 0.3014 0.2627 het 1025.48 96 4 40337523 . C T 1025.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.180;DP=96;Dels=0.00;FS=0.754;HRun=1;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=-0.092;QD=10.68;ReadPosRankSum=1.636;VQSLOD=5.4325;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,44:96:99:1055,0,1446 4 40337908 40337908 T C exonic CHRNA9 synonymous SNV CHRNA9:NM_017581:exon2:c.T129C:p.S43S 0.64 0.93 0.64 0.4 0.53 0.62 0.5767 0.8758 0.6510 0.4027 0.5553 0.5435 0.5650 0.5708 0.65 0.87 0.55 0.76 0.66 rs10022491 COSM4003078 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5743 0.8809 0.6385 0.5010 0.4105 0.5606 0.5493 0.5716 0.5680 0.6491 0.8787 0.6220 0.5497 0.4148 0.5645 0.5671 0.5978 het 1650.53 105 4 40337908 . T C 1650.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.060;DP=105;Dels=0.00;FS=20.626;HRun=1;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=0.899;QD=15.72;ReadPosRankSum=-1.092;VQSLOD=2.6995;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,58:105:99:1681,0,1344 4 40337944 40337944 C T exonic CHRNA9 synonymous SNV CHRNA9:NM_017581:exon2:c.C165T:p.V55V 0.11 0.011 0.18 0.05 0.22 0.17 0.1861 0.0436 0.1625 0.0493 0.2371 0.2356 0.2004 0.1430 0.18 0.05 0.25 0.12 0.25 rs56159866 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1887 0.0389 0.1643 0.1446 0.0497 0.2345 0.2452 0.1991 0.1426 0.1787 0.0458 0.1492 0.1623 0.0600 0.2364 0.2549 0.2163 het 1695.82 142 4 40337944 . C T 1695.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.101;DP=142;Dels=0.00;FS=8.956;HRun=1;HaplotypeScore=6.4584;MQ=59.02;MQ0=0;MQRankSum=1.405;QD=11.94;ReadPosRankSum=0.245;VQSLOD=4.1254;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,69:142:99:1726,0,1901 4 40356422 40356422 A G exonic CHRNA9 nonsynonymous SNV CHRNA9:NM_017581:exon5:c.A1325G:p.N442S 0.74 0.64 0.68 0.85 0.78 0.79 0.7837 0.6728 0.6422 0.8672 0.7985 0.8099 0.8194 0.7954 0.76 0.67 0.81 0.62 0.81 rs10009228 . . . . . . . . . . . . . 0.479 0.082 T 0.0 0.026 B 0.003 0.080 B 0.675 0.061 N 1 0.090 P 0.88 0.216 L -1.63 0.825 D 0.16 0.052 N 0.027 0.009 -0.955 0.401 T 0.000 0.000 T . . . -0.310 0.068 0.630 0.900 0.187 0.111 0.162 N c -0.777 -0.651 0.017 0.129 0.516 0.203 0 3.09 0.345 1.329 0.332 1.199 0.960 0.001 0.137 0.825 0.345 7.016 0.239 Neurotransmitter-gated ion-channel transmembrane domain|Nicotinic acetylcholine-gated receptor\x2c transmembrane domain . . 0.7802 0.6717 0.6461 0.7899 0.8674 0.7952 0.8141 0.7760 0.7952 0.7714 0.6694 0.6504 0.7980 0.8864 0.7952 0.8180 0.7882 hom 4107.37 119 4 40356422 . A G 4107.37 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8273;MQ=59.50;MQ0=0;QD=34.52;VQSLOD=9.7231;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:4107,322,0 4 40428010 40428010 T C exonic RBM47 nonsynonymous SNV RBM47:NM_019027:exon5:c.A1486G:p.M496V,RBM47:NM_001098634:exon7:c.A1693G:p.M565V 0.69 0.67 0.78 0.58 0.78 0.68 0.7450 0.6926 0.8125 0.5823 0.7765 0.7727 0.7456 0.6912 0.74 0.7 0.76 0.67 0.78 rs278981 COSM3723324;COSM3723325;COSM3723326 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.353 0.133 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P -0.55 0.024 N 2.68 0.125 T 0.19 0.050 N 0.047 0.028 -0.919 0.457 T 0.000 0.000 T . . . -0.936 0.034 0.022 0.498 0.042 0.030 0.077 N c -1.016 -0.861 0.998 0.370 0.719 0.830 0 3.82 0.430 2.532 0.451 -0.054 0.122 0.951 0.329 0.760 0.324 10.683 0.448 . ENSG00000250893.1 Testis 0.7494 0.6931 0.8158 0.8158 0.5877 0.7675 0.7681 0.7646 0.6910 0.7328 0.6872 0.7955 0.8079 0.5689 0.7616 0.7635 0.7607 het 1684.72 143 4 40428010 . T C 1684.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.270;DP=143;Dels=0.00;FS=7.775;HRun=0;HaplotypeScore=3.4529;MQ=59.08;MQ0=0;MQRankSum=1.305;QD=11.78;ReadPosRankSum=-0.955;VQSLOD=4.7606;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,73:143:99:1715,0,1735 4 40438576 40438576 A G exonic RBM47 synonymous SNV RBM47:NM_001098634:exon5:c.T1212C:p.G404G 0.81 0.71 0.85 0.77 0.87 0.88 0.8534 0.7405 0.8465 0.8124 0.7927 0.8740 0.8367 0.8886 0.84 0.74 0.88 0.79 0.91 rs2307046 COSM4159064 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8555 0.7385 0.8532 0.9019 0.8064 0.7885 0.8798 0.8551 0.8891 0.8208 0.7372 0.8437 0.8808 0.8106 0.7888 0.8749 0.8296 het 2934.38 250 4 40438576 . A G 2934.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.762;DP=250;DS;Dels=0.00;FS=4.403;HRun=1;HaplotypeScore=4.5595;MQ=59.11;MQ0=0;MQRankSum=-0.496;QD=11.74;ReadPosRankSum=1.472;VQSLOD=4.8935;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:2964,0,3420 4 40440215 40440215 T C exonic RBM47 synonymous SNV RBM47:NM_019027:exon3:c.A696G:p.E232E,RBM47:NM_001098634:exon4:c.A696G:p.E232E 0.7 0.45 0.78 0.73 0.81 0.84 0.7875 0.5263 0.8079 0.7609 0.7638 0.8191 0.7753 0.8338 0.72 0.53 0.82 0.63 0.8 rs2291580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7943 0.5230 0.8129 0.8421 0.7561 0.7601 0.8229 0.7876 0.8330 0.7242 0.5235 0.8031 0.8233 0.7556 0.7602 0.8191 0.7812 het 2498.28 204 4 40440215 . T C 2498.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.705;DP=204;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5272;MQ=58.91;MQ0=0;MQRankSum=-0.110;QD=12.25;ReadPosRankSum=-0.639;VQSLOD=4.7221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,89:204:99:2528,0,3147 4 40778146 40778146 C T exonic NSUN7 synonymous SNV NSUN7:NM_001330648:exon7:c.C906T:p.G302G,NSUN7:NM_024677:exon7:c.C906T:p.G302G 0.73 0.87 0.88 0.52 0.77 0.6 0.7671 0.8676 0.8505 0.5142 0.7827 0.8030 0.7699 0.6260 0.82 0.87 0.8 0.74 0.76 rs2465570 COSM4415790;COSM149666 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7721 0.8678 0.8512 0.8650 0.5087 0.7861 0.8027 0.7935 0.6298 0.8049 0.8677 0.8604 0.8411 0.5205 0.7994 0.7965 0.8029 het 1170.21 124 4 40778146 . C T 1170.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.884;DP=124;Dels=0.00;FS=3.375;HRun=1;HaplotypeScore=0.8321;MQ=59.02;MQ0=0;MQRankSum=-1.166;QD=9.44;ReadPosRankSum=-0.857;VQSLOD=5.2948;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,51:124:99:1200,0,2060 4 40778162 40778162 T G exonic NSUN7 nonsynonymous SNV NSUN7:NM_001330648:exon7:c.T922G:p.S308A,NSUN7:NM_024677:exon7:c.T922G:p.S308A 0.73 0.87 0.88 0.52 0.77 0.6 0.7673 0.8676 0.8507 0.5148 0.7827 0.8032 0.7732 0.6263 0.82 0.87 0.8 0.74 0.75 rs2437323 COSM4778153;COSM149667 1(stomach);2(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.1 0.002 N 3.1 0.083 T 1.08 0.013 N 0.092 0.144 -0.970 0.372 T 0.000 0.000 T . . . 0.737 0.164 9.070 0.324 0.019 0.050 0.106 N c -0.782 -0.446 0.359 0.198 0.615 0.372 0 5.61 0.853 5.538 0.667 0.136 0.221 1.000 0.715 0.990 0.544 15.791 0.780 S-adenosyl-L-methionine-dependent methyltransferase|SAM-dependent methyltransferase RsmB/NOP2-type ENSG00000179299.12|ENSG00000248780.1|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000179299.12|ENSG00000248780.1|ENSG00000179299.12|ENSG00000248780.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.7722 0.8678 0.8516 0.8649 0.5092 0.7860 0.8027 0.7936 0.6314 0.8046 0.8678 0.8604 0.8411 0.5199 0.7989 0.7961 0.8006 het 1276.76 131 4 40778162 . T G 1276.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.445;DP=131;Dels=0.00;FS=0.661;HRun=0;HaplotypeScore=7.1586;MQ=58.82;MQ0=0;MQRankSum=0.072;QD=9.75;ReadPosRankSum=-0.996;VQSLOD=4.5469;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,55:131:99:1307,0,2057 4 40947002 40947002 A G exonic APBB2 synonymous SNV APBB2:NM_001330658:exon6:c.T921C:p.Y307Y,APBB2:NM_001166050:exon7:c.T921C:p.Y307Y,APBB2:NM_001330656:exon7:c.T921C:p.Y307Y,APBB2:NM_004307:exon7:c.T924C:p.Y308Y,APBB2:NM_173075:exon7:c.T921C:p.Y307Y . . . . . . 6.624e-05 0 0 0.0002 0 8.99e-05 0 0 0.0004 . 0.0006 . . rs369914905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.499e-05 0 0 0 0.0002 0 0.0001 0 0 9.708e-05 0 0 0 0 0 0.0001 0.0010 het 2438.64 181 4 40947002 . A G 2438.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.334;DP=181;Dels=0.00;FS=0.583;HRun=0;HaplotypeScore=2.6113;MQ=59.10;MQ0=0;MQRankSum=2.646;QD=13.47;ReadPosRankSum=-0.050;VQSLOD=3.9281;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,91:181:99:2469,0,2429 4 41015823 41015823 G A exonic APBB2 synonymous SNV APBB2:NM_001330658:exon5:c.C612T:p.G204G,APBB2:NM_001166050:exon6:c.C612T:p.G204G,APBB2:NM_001330656:exon6:c.C612T:p.G204G,APBB2:NM_004307:exon6:c.C612T:p.G204G,APBB2:NM_173075:exon6:c.C612T:p.G204G 0.31 0.048 0.29 0.54 0.31 0.43 0.3284 0.0815 0.3345 0.5462 0.4115 0.3133 0.3367 0.3841 0.19 0.069 0.24 0.26 0.22 rs2292234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3314 0.0758 0.3300 0.2381 0.5521 0.4013 0.3142 0.3076 0.3817 0.2754 0.0879 0.3050 0.2583 0.5347 0.3991 0.3221 0.3447 het 3141.50 250 4 41015823 . G A 3141.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.118;DP=250;DS;Dels=0.00;FS=0.491;HRun=0;HaplotypeScore=3.6311;MQ=59.22;MQ0=0;MQRankSum=0.202;QD=12.57;ReadPosRankSum=-0.478;VQSLOD=5.6790;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:3171,0,3921 4 41015899 41015899 C T exonic APBB2 nonsynonymous SNV APBB2:NM_001330658:exon5:c.G536A:p.R179Q,APBB2:NM_001166050:exon6:c.G536A:p.R179Q,APBB2:NM_001330656:exon6:c.G536A:p.R179Q,APBB2:NM_004307:exon6:c.G536A:p.R179Q,APBB2:NM_173075:exon6:c.G536A:p.R179Q 0.67 0.32 0.73 0.9 0.75 0.8 0.7487 0.3679 0.7839 0.8920 0.7824 0.7663 0.7356 0.7910 0.65 0.4 0.77 0.61 0.66 rs4861358 . . . . . . . . . . . . . 0.381 0.112 T 0.002 0.126 B 0.0 0.013 B 0.390 0.045 N 1 0.090 P 0 0.065 N 1.96 0.223 T 0.22 0.060 N 0.031 0.299 -1.023 0.227 T 0.000 0.000 T . . . -1.448 0.018 0.003 0.492 0.041 0.115 0.165 N c -1.806 -1.772 1.000 0.747 0.744 0.983 0 -2.0 0.070 0.583 0.234 -0.655 0.041 0.000 0.063 0.000 0.016 2.854 0.052 . . . 0.7512 0.3574 0.7754 0.7127 0.8982 0.7709 0.7645 0.7409 0.7897 0.6635 0.3690 0.7548 0.7285 0.8784 0.7721 0.7738 0.7551 hom 7567.68 219 4 41015899 . C T 7567.68 Mask AC=2;AF=1.00;AN=2;DP=219;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2161;MQ=59.68;MQ0=0;QD=34.56;VQSLOD=8.3200;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,219:219:99:7567,611,0 4 41673604 41673604 T C exonic LIMCH1 nonsynonymous SNV LIMCH1:NM_001112720:exon11:c.T1778C:p.M593T,LIMCH1:NM_001330674:exon11:c.T1778C:p.M593T,LIMCH1:NM_001112719:exon12:c.T1814C:p.M605T,LIMCH1:NM_001330793:exon12:c.T1814C:p.M605T,LIMCH1:NM_001330982:exon12:c.T1814C:p.M605T,LIMCH1:NM_001330983:exon12:c.T1814C:p.M605T,LIMCH1:NM_001330786:exon14:c.T1799C:p.M600T,LIMCH1:NM_001330791:exon16:c.T2240C:p.M747T,LIMCH1:NM_001330792:exon16:c.T2240C:p.M747T,LIMCH1:NM_001112717:exon17:c.T2276C:p.M759T,LIMCH1:NM_001112718:exon17:c.T2276C:p.M759T,LIMCH1:NM_001289122:exon17:c.T2315C:p.M772T,LIMCH1:NM_001289124:exon17:c.T1838C:p.M613T,LIMCH1:NM_001330787:exon17:c.T2276C:p.M759T,LIMCH1:NM_001330788:exon17:c.T2276C:p.M759T,LIMCH1:NM_001330789:exon17:c.T2276C:p.M759T,LIMCH1:NM_001330790:exon17:c.T2276C:p.M759T,LIMCH1:NM_014988:exon17:c.T2276C:p.M759T,LIMCH1:NM_001330672:exon22:c.T3431C:p.M1144T 0.49 0.69 0.48 0.14 0.57 0.49 0.5046 0.6630 0.3994 0.1447 0.5417 0.5408 0.5166 0.5042 0.58 0.66 0.54 0.51 0.51 rs11734372 COSM5419975;COSM5419977;COSM5419978;COSM5419976 1(pancreas) . . . . . . . . . . . 0.956 0.111 T 0.0 0.067 B 0.0 0.063 B 0.145 0.181 N 1 0.208 P -1.245 0.008 N 1.18 0.377 T 1.29 0.024 N 0.278 0.336 -0.997 0.306 T 0.000 0.000 T . . . -1.048 0.030 0.013 0.179 0.005 0.001 0.006 N c -0.835 -0.852 0.006 0.110 0.660 0.495 0 2.76 0.314 0.829 0.269 -0.396 0.063 0.102 0.226 0.002 0.062 9.643 0.388 . . . 0.4994 0.6655 0.4072 0.5930 0.1398 0.5424 0.5410 0.5169 0.5036 0.5560 0.6651 0.4308 0.5497 0.1228 0.5546 0.5510 0.4938 hom 2637.56 92 4 41673604 . T C 2637.56 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2408;MQ=59.29;MQ0=0;QD=28.67;VQSLOD=8.5871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2671,214,0 4 41984118 41984118 C T exonic DCAF4L1 synonymous SNV DCAF4L1:NM_001029955:exon1:c.C309T:p.S103S 0.66 0.15 0.8 0.96 0.78 0.82 0.7564 0.2352 0.8399 0.9685 0.8163 0.7761 0.7919 0.8091 0.6 0.25 0.78 0.56 0.72 rs2660320 COSM4159076 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7687 0.2285 0.8277 0.7085 0.9690 0.8178 0.7792 0.7684 0.8060 0.6396 0.2427 0.7775 0.7053 0.9628 0.8162 0.7782 0.7520 het 1841.74 162 4 41984118 . C T 1841.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.496;DP=162;Dels=0.00;FS=3.921;HRun=0;HaplotypeScore=1.6643;MQ=59.25;MQ0=0;MQRankSum=1.993;QD=11.37;ReadPosRankSum=0.066;VQSLOD=5.9714;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,71:162:99:1872,0,2448 4 41992677 41992677 C G exonic SLC30A9 synonymous SNV SLC30A9:NM_006345:exon1:c.C9G:p.P3P 0.71 0.25 0.84 0.96 0.82 0.86 0.7980 0.3260 0.8569 0.9678 0.8188 0.8146 0.8194 0.8609 0.65 0.33 0.82 0.6 0.59 rs2581434 COSM4159077 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8102 0.3123 0.8540 0.7975 0.9697 0.8264 0.8220 0.8089 0.8627 0.6860 0.3297 0.8067 0.8079 0.9642 0.8261 0.8147 0.7878 het 292.76 45 4 41992677 . C G 292.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.066;DP=45;Dels=0.00;FS=2.888;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.919;QD=6.51;ReadPosRankSum=-0.184;VQSLOD=4.1494;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,14:45:99:323,0,736 4 42003671 42003671 A G exonic SLC30A9 nonsynonymous SNV SLC30A9:NM_006345:exon2:c.A148G:p.M50V 0.63 0.11 0.77 0.95 0.76 0.78 0.7370 0.2003 0.8203 0.9612 0.7891 0.7611 0.7786 0.7767 0.58 0.21 0.76 0.51 0.74 rs1047626 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.337 0.140 N 1 0.090 P 1.245 0.315 L 2.06 0.205 T -0.5 0.158 N 0.015 0.003 -0.949 0.412 T 0.000 0.000 T . . . -2.119 0.007 0.001 0.375 0.025 0.012 0.041 N c -1.440 -1.451 0.168 0.177 0.737 0.974 0 -2.85 0.054 -1.007 0.037 -1.132 0.018 0.000 0.063 0.024 0.140 4.598 0.117 . . . 0.7493 0.1932 0.8090 0.7086 0.9601 0.7942 0.7629 0.7519 0.7761 0.6167 0.2093 0.7536 0.7053 0.9530 0.7978 0.7587 0.7286 het 846.78 77 4 42003671 . A G 846.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.662;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.05;MQ0=0;MQRankSum=0.477;QD=11.00;ReadPosRankSum=-0.415;VQSLOD=5.6721;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,34:77:99:877,0,1127 4 42020142 42020142 A G exonic SLC30A9 nonsynonymous SNV SLC30A9:NM_006345:exon3:c.A289G:p.T97A 0.98 0.97 0.99 1. 0.97 0.98 0.9793 0.9757 0.9909 0.9948 0.9798 0.9756 0.9878 0.9799 0.98 0.97 0.98 0.95 0.76 rs2581423 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.177 0.172 N 1 0.090 P -0.975 0.012 N 2.1 0.200 T -0.32 0.123 N 0.011 0.002 -0.975 0.362 T 0.000 0.000 T . . . -0.353 0.065 0.501 0.245 0.011 0.001 0.004 N c -1.103 -0.902 0.019 0.131 0.706 0.609 0 3.52 0.393 0.484 0.219 0.104 0.200 0.001 0.137 0.593 0.287 6.242 0.199 . . . 0.9796 0.9762 0.9890 0.9815 0.9956 0.9767 0.9747 0.9812 0.9811 0.9749 0.9708 0.9856 0.9768 0.9975 0.9777 0.9732 0.9815 hom 2276.47 80 4 42020142 . A G 2276.47 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.48;MQ0=0;QD=28.46;VQSLOD=8.5022;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2309,178,0 4 42022464 42022464 C A exonic SLC30A9 synonymous SNV SLC30A9:NM_006345:exon4:c.C366A:p.G122G 0.67 0.19 0.8 0.96 0.78 0.8 0.7582 0.2685 0.8404 0.9688 0.8168 0.7766 0.7952 0.7986 0.61 0.28 0.78 0.56 0.73 rs15857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7690 0.2580 0.8290 0.7098 0.9688 0.8185 0.7790 0.7688 0.7955 0.6483 0.2741 0.7780 0.7020 0.9635 0.8155 0.7779 0.75 het 1839.47 160 4 42022464 . C A 1839.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.951;DP=160;Dels=0.00;FS=1.243;HRun=0;HaplotypeScore=1.8773;MQ=58.94;MQ0=0;MQRankSum=-0.531;QD=11.50;ReadPosRankSum=-0.078;VQSLOD=6.5581;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,73:160:99:1869,0,2272 4 42457545 42457545 G A exonic ATP8A1 synonymous SNV ATP8A1:NM_001105529:exon27:c.C2646T:p.N882N,ATP8A1:NM_006095:exon28:c.C2691T:p.N897N 0.15 0.39 0.098 0.04 0.046 0.072 0.0731 0.3368 0.0993 0.0169 0.0342 0.0429 0.0479 0.0573 0.14 0.33 0.044 0.21 0.041 rs61735691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0677 0.3389 0.0975 0.0393 0.0189 0.0327 0.0423 0.0544 0.0561 0.1241 0.3384 0.0919 0.0331 0.0235 0.0356 0.0392 0.0602 het 789.04 58 4 42457545 . G A 789.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.528;DP=58;Dels=0.00;FS=1.116;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.436;QD=13.60;ReadPosRankSum=-0.795;VQSLOD=6.1029;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:819,0,771 4 42629038 42629038 C T exonic ATP8A1 synonymous SNV ATP8A1:NM_001105529:exon2:c.G138A:p.L46L,ATP8A1:NM_006095:exon2:c.G138A:p.L46L 0.083 0.15 0.042 0.038 0.08 0.064 0.0733 0.1558 0.0374 0.0217 0.0566 0.0759 0.0802 0.0692 0.1 0.16 0.076 0.043 0.09 rs16854624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0695 0.1580 0.0408 0.0963 0.0237 0.0537 0.0737 0.0736 0.0694 0.0892 0.1589 0.0621 0.1126 0.0235 0.0521 0.0671 0.0652 het 553.87 44 4 42629038 . C T 553.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.655;DP=44;Dels=0.00;FS=1.194;HRun=1;HaplotypeScore=2.8325;MQ=60.00;MQ0=0;MQRankSum=-1.175;QD=12.59;ReadPosRankSum=-1.057;VQSLOD=5.7135;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,23:44:99:584,0,568 4 44626641 44626641 A G exonic YIPF7 synonymous SNV YIPF7:NM_182592:exon5:c.T657C:p.G219G 0.55 0.69 0.46 0.56 0.41 0.57 0.4900 0.6584 0.5306 0.5747 0.4310 0.4335 0.4835 0.5528 0.45 0.61 0.37 0.47 . rs60959366 COSM4159083 1(breast);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4239 0.6338 0.4539 0.4307 0.5393 0.3351 0.3597 0.4209 0.5229 0.4627 0.6497 0.4616 0.47 0.5740 0.3388 0.3738 0.4153 het 334.21 24 4 44626641 . A G 334.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.939;DP=24;Dels=0.00;FS=4.993;HRun=0;HaplotypeScore=0.9958;MQ=59.03;MQ0=0;MQRankSum=1.077;QD=13.93;ReadPosRankSum=-1.200;VQSLOD=5.3694;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,13:24:99:364,0,320 4 44682465 44682465 T C exonic GUF1 nonsynonymous SNV GUF1:NM_001345868:exon2:c.T173C:p.L58P,GUF1:NM_021927:exon2:c.T173C:p.L58P 0.44 0.29 0.52 0.4 0.6 0.46 0.5915 0.3698 0.5343 0.4519 0.6798 0.6592 0.6176 0.5258 0.54 0.35 0.64 0.51 0.42 rs6447368 COSM149668 1(stomach);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.439 0.093 T 0.0 0.026 B 0.001 0.040 B 0.700 0.062 N 0.999 0.214 P 1.265 0.321 L -0.45 0.699 T -1.59 0.383 N 0.021 0.005 -0.917 0.460 T 0.000 0.000 T . . . 1.002 0.190 10.67 0.960 0.278 0.715 0.348 D c -0.683 -0.541 1.000 0.747 0.732 0.924 0 2.83 0.320 4.786 0.619 -0.209 0.100 0.756 0.290 0.886 0.372 7.019 0.239 P-loop containing nucleoside triphosphate hydrolase ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000151806.9|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000151806.9|ENSG00000272936.1|ENSG00000272936.1|ENSG00000163281.7|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000151806.9|ENSG00000163281.7|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000272936.1|ENSG00000163281.7|ENSG00000272936.1|ENSG00000272936.1|ENSG00000163281.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.5599 0.3307 0.4960 0.5432 0.3923 0.6612 0.6349 0.5744 0.4948 0.5302 0.3276 0.5108 0.5033 0.3779 0.6645 0.6317 0.5767 het 307.73 30 4 44682465 . T C 307.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.656;DP=30;Dels=0.00;FS=1.744;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;MQRankSum=-0.021;QD=10.26;ReadPosRankSum=-1.672;VQSLOD=5.3352;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,12:30:99:338,0,551 4 46086060 46086060 T C exonic GABRG1 synonymous SNV GABRG1:NM_173536:exon3:c.A264G:p.T88T 0.51 0.72 0.56 0.33 0.55 0.33 0.5726 0.7166 0.5947 0.4510 0.6844 0.5968 0.5497 0.3900 0.6 0.7 0.55 0.6 0.19 rs976156 COSM149669 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5146 0.6983 0.5325 0.4329 0.3663 0.6332 0.5449 0.4967 0.3348 0.5938 0.6892 0.5408 0.44 0.3793 0.6387 0.5591 0.5531 hom 264.14 10 4 46086060 . T C 264.14 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=26.41;VQSLOD=8.0279;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:297,24,0 4 46314593 46314593 T C exonic GABRA2 synonymous SNV GABRA2:NM_001114175:exon4:c.A396G:p.K132K,GABRA2:NM_001286827:exon4:c.A231G:p.K77K,GABRA2:NM_000807:exon5:c.A396G:p.K132K,GABRA2:NM_001330690:exon5:c.A396G:p.K132K 0.36 0.23 0.47 0.53 0.43 0.23 0.3980 0.2546 0.5159 0.5168 0.4262 0.4191 0.3603 0.2433 0.38 0.26 0.44 0.3 0.39 rs279858 COSM1178493 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4029 0.2479 0.5031 0.3066 0.5147 0.4156 0.4271 0.4027 0.2360 0.3844 0.2458 0.4785 0.3212 0.5225 0.4103 0.4400 0.3899 het 1452.49 131 4 46314593 . T C 1452.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.414;DP=131;Dels=0.00;FS=2.275;HRun=0;HaplotypeScore=6.5946;MQ=58.93;MQ0=0;MQRankSum=1.076;QD=11.09;ReadPosRankSum=0.379;VQSLOD=4.9892;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,59:131:99:1482,0,1742 4 46995366 46995366 G T exonic GABRA4 nonsynonymous SNV GABRA4:NM_000809:exon1:c.C76A:p.L26M 0.3 0.25 0.3 0.39 0.37 0.21 0.3144 0.2543 0.2723 0.3756 0.2156 0.3569 0.3093 0.2184 0.33 0.26 0.37 0.33 0.17 rs2229940 COSM1131120 1(breast);1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(oesophagus);1(prostate);2(large_intestine) . . . . . . . . . . . 0.023 0.481 D 0.091 0.237 B 0.103 0.294 B 0.108 0.195 N 0.808 0.290 P 0.895 0.225 L -1.56 0.818 D -0.4 0.138 N 0.094 0.253 -1.052 0.137 T 0.000 0.000 T . . . 4.591 0.615 24.4 0.983 0.400 0.844 0.432 D c -0.259 -0.126 0.996 0.345 0.583 0.331 0 2.98 0.334 2.874 0.479 0.905 0.419 1.000 0.715 1.000 0.888 6.801 0.228 . ENSG00000170516.12|ENSG00000109158.6 Testis|Testis 0.3146 0.2541 0.2801 0.3946 0.3817 0.2170 0.3611 0.3274 0.2199 0.2980 0.2577 0.2924 0.3742 0.3550 0.2218 0.3330 0.2806 het 3188.79 206 4 46995366 . G T 3188.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.002;DP=206;Dels=0.00;FS=6.008;HRun=0;HaplotypeScore=3.8204;MQ=58.89;MQ0=0;MQRankSum=1.226;QD=15.48;ReadPosRankSum=1.692;VQSLOD=3.7616;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,122:206:99:3219,0,2047 4 47322190 47322190 T C exonic GABRB1 synonymous SNV GABRB1:NM_000812:exon5:c.T508C:p.L170L 0.97 0.9 0.98 1. 0.99 1. 0.9841 0.9161 0.9901 0.9999 0.9977 0.9869 0.9923 0.9975 0.96 0.91 0.99 0.96 0.98 rs4482737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9857 0.9173 0.9886 0.9758 1 0.9982 0.9876 0.9829 0.9964 0.9711 0.9208 0.9869 0.9834 0.9994 0.9974 0.9889 0.9878 hom 3035.93 104 4 47322190 . T C 3035.93 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.36;MQ0=0;QD=29.19;VQSLOD=8.8703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3069,226,0 4 47408709 47408709 A G exonic GABRB1 synonymous SNV GABRB1:NM_000812:exon8:c.A846G:p.T282T 0.21 0.31 0.19 0.018 0.31 0.19 0.2607 0.2721 0.1442 0.0080 0.2753 0.3247 0.2682 0.2026 0.31 0.27 0.33 0.28 0.4 rs6289 COSM5420309 1(pancreas) . . . . . Obesity-related traits . .03 23251661 rs6289 5E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2555 0.2726 0.1513 0.3329 0.0082 0.2716 0.3255 0.2893 0.2034 0.2724 0.2695 0.1933 0.3179 0.0068 0.2742 0.3061 0.2679 het 1210.90 107 4 47408709 . A G 1210.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.018;DP=107;Dels=0.00;FS=1.571;HRun=1;HaplotypeScore=1.8268;MQ=57.95;MQ0=0;MQRankSum=-0.247;QD=11.32;ReadPosRankSum=-0.498;VQSLOD=5.0072;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,48:107:99:1241,0,1554 4 47584046 47584046 G A exonic ATP10D nonsynonymous SNV ATP10D:NM_020453:exon21:c.G3718A:p.V1240I 0.3 0.33 0.25 0.57 0.16 0.16 0.2204 0.3049 0.2690 0.5880 0.1908 0.1664 0.2269 0.1707 0.21 0.29 0.16 0.28 0.2 rs1058793 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.000 0.486 N 1.000 0.203 P -1.305 0.007 N 0.7 0.515 T 0.8 0.019 N 0.064 0.049 -0.931 0.440 T 0.000 0.000 T . . . 1.789 0.276 14.92 0.237 0.010 0.132 0.175 N c -0.602 -0.345 0.938 0.273 0.672 0.522 0 5.01 0.663 5.563 0.668 0.126 0.213 1.000 0.715 0.998 0.697 7.626 0.272 P-type ATPase\x2c C-terminal ENSG00000145246.9 Artery_Tibial 0.2197 0.3106 0.2588 0.1454 0.5898 0.1922 0.1643 0.1991 0.1728 0.2320 0.3010 0.2697 0.1391 0.5811 0.1952 0.1671 0.1650 het 2093.73 216 4 47584046 . G A 2093.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.231;DP=216;DS;Dels=0.00;FS=2.389;HRun=0;HaplotypeScore=4.2573;MQ=58.47;MQ0=0;MQRankSum=0.218;QD=9.69;ReadPosRankSum=0.372;VQSLOD=5.4770;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,87:216:99:2124,0,3315 4 47667064 47667064 T C exonic CORIN nonsynonymous SNV CORIN:NM_001278585:exon9:c.A1262G:p.H421R,CORIN:NM_001278586:exon10:c.A1463G:p.H488R,CORIN:NM_006587:exon11:c.A1574G:p.H525R 0.91 0.99 0.88 0.97 0.88 0.8 0.8763 0.9769 0.9136 0.9764 0.9222 0.8576 0.8645 0.7928 0.89 0.97 0.85 0.9 0.83 rs11934749 . . . . . . . . . . . . . 1.0 0.040 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.090 P -2.205 0.001 N -0.89 0.748 T 1.79 0.013 N 0.069 0.182 -0.955 0.402 T 0.000 0.000 T . . . -0.835 0.039 0.036 0.163 0.004 0.039 0.092 N c -0.999 -0.759 0.001 0.086 0.549 0.223 0 4.33 0.509 1.707 0.373 -0.331 0.074 0.998 0.411 0.001 0.043 12.610 0.557 Frizzled domain . . 0.8733 0.9791 0.9054 0.7047 0.9770 0.9178 0.8615 0.8573 0.7947 0.9078 0.9786 0.9045 0.6589 0.9765 0.9158 0.8645 0.8778 hom 2019.09 65 4 47667064 . T C 2019.09 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=31.06;VQSLOD=9.3472;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2052,165,0 4 47682174 47682174 A G exonic CORIN synonymous SNV CORIN:NM_006587:exon8:c.T1116C:p.S372S 0.37 0.25 0.52 0.13 0.58 0.46 0.5021 0.2964 0.4996 0.1190 0.5474 0.5865 0.4633 0.4747 0.49 0.3 0.59 0.3 0.58 rs10517195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5045 0.2912 0.5009 0.5674 0.1124 0.5545 0.5884 0.5130 0.4737 0.4735 0.2910 0.5060 0.5633 0.1075 0.5436 0.5963 0.5184 hom 2516.84 91 4 47682174 . A G 2516.84 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5476;MQ=59.08;MQ0=0;QD=27.66;VQSLOD=8.0644;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:91:99:2550,205,0 4 47839929 47839929 C T exonic CORIN nonsynonymous SNV CORIN:NM_001278585:exon1:c.G38A:p.C13Y,CORIN:NM_001278586:exon1:c.G38A:p.C13Y,CORIN:NM_006587:exon1:c.G38A:p.C13Y 0.69 0.57 0.74 0.69 0.75 0.77 0.7369 0.6212 0.7400 0.6377 0.8245 0.7521 0.7291 0.7636 0.71 0.62 0.75 0.65 0.79 rs2289433 COSM4159089 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.353 0.043 N 1 0.090 P -0.55 0.024 N -2.45 0.920 D 0.83 0.022 N 0.02 0.007 -1.028 0.212 T 0.000 0.000 T . . . -2.285 0.005 0.001 0.803 0.127 0.003 0.018 N c -2.178 -2.154 1.000 0.747 0.437 0.062 0 -4.22 0.035 -0.739 0.049 -1.497 0.010 0.001 0.137 0.000 0.016 7.196 0.249 . ENSG00000198515.9|ENSG00000163293.7|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000170448.7|ENSG00000259959.1|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000163293.7|ENSG00000198515.9|ENSG00000198515.9|ENSG00000163293.7|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000170448.7|ENSG00000259959.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Spleen|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood 0.7393 0.6158 0.7509 0.6640 0.6291 0.8279 0.7529 0.7394 0.7610 0.7246 0.6201 0.7434 0.6755 0.6242 0.8315 0.7669 0.7898 hom 6039.52 195 4 47839929 . C T 6039.52 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8134;MQ=58.61;MQ0=0;QD=30.97;VQSLOD=8.6740;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6038,499,0 4 47887536 47887536 T C exonic NFXL1 synonymous SNV NFXL1:NM_001278623:exon14:c.A1803G:p.A601A,NFXL1:NM_001278624:exon14:c.A1803G:p.A601A,NFXL1:NM_152995:exon14:c.A1803G:p.A601A 0.72 0.66 0.75 0.69 0.75 0.77 0.7441 0.6814 0.7432 0.6381 0.8243 0.7546 0.7335 0.7659 0.73 0.68 0.75 0.7 0.8 rs2053404 COSM5482403;COSM5482404 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7452 0.6769 0.7538 0.6646 0.6290 0.8283 0.7554 0.7415 0.7639 0.7424 0.6783 0.7536 0.6767 0.6239 0.8324 0.7688 0.7929 hom 5044.75 167 4 47887536 . T C 5044.75 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.05;MQ0=0;QD=30.21;VQSLOD=8.9652;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5044,403,0 4 47887991 47887991 G A exonic NFXL1 synonymous SNV NFXL1:NM_001278623:exon13:c.C1569T:p.T523T,NFXL1:NM_001278624:exon13:c.C1569T:p.T523T,NFXL1:NM_152995:exon13:c.C1569T:p.T523T 0.72 0.66 0.75 0.69 0.75 0.77 0.7441 0.6807 0.7430 0.6399 0.8243 0.7545 0.7335 0.7659 0.73 0.68 0.75 0.71 0.78 rs6818556 COSM5619163;COSM5619164 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7451 0.6763 0.7539 0.6643 0.6290 0.8282 0.7555 0.7413 0.7638 0.7424 0.6778 0.7530 0.68 0.625 0.8330 0.7689 0.7929 hom 5631.77 159 4 47887991 . G A 5631.77 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.689;DP=159;DS;Dels=0.00;FS=6.962;HRun=0;HaplotypeScore=7.8290;MQ=58.98;MQ0=0;MQRankSum=1.580;QD=35.42;ReadPosRankSum=1.471;VQSLOD=4.2633;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,158:159:99:5598,406,0 4 47901476 47901476 G A exonic NFXL1 nonsynonymous SNV NFXL1:NM_001278623:exon6:c.C737T:p.P246L,NFXL1:NM_001278624:exon6:c.C737T:p.P246L,NFXL1:NM_152995:exon6:c.C737T:p.P246L 0.39 0.33 0.34 0.6 0.33 0.35 0.3513 0.3391 0.3257 0.5639 0.4330 0.3212 0.3587 0.3544 0.32 0.33 0.31 0.37 0.39 rs12651301 COSM3760649;COSM3760648 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 2.15 0.603 M 0.91 0.449 T -8.58 0.974 D 0.285 0.419 -0.904 0.476 T 0.000 0.000 T . . . 6.100 0.840 28.2 0.998 0.855 0.990 0.899 D c 0.708 0.651 1.000 0.747 0.719 0.830 0 5.58 0.843 9.332 0.964 0.953 0.551 1.000 0.715 0.882 0.370 19.558 0.953 . ENSG00000198515.9|ENSG00000163293.7|ENSG00000198515.9|ENSG00000198515.9|ENSG00000259959.1|ENSG00000198515.9|ENSG00000259959.1|ENSG00000170448.7|ENSG00000198515.9|ENSG00000259959.1|ENSG00000198515.9|ENSG00000259959.1|ENSG00000198515.9|ENSG00000145244.7|ENSG00000163293.7|ENSG00000198515.9|ENSG00000170448.7|ENSG00000198515.9|ENSG00000198515.9|ENSG00000198515.9|ENSG00000259959.1|ENSG00000198515.9|ENSG00000163293.7|ENSG00000259959.1|ENSG00000170448.7|ENSG00000259959.1|ENSG00000145244.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3507 0.3383 0.3318 0.2738 0.5586 0.4318 0.3158 0.3342 0.3560 0.3535 0.3392 0.3234 0.2682 0.5649 0.4452 0.3184 0.3918 het 1014.75 90 4 47901476 . G A 1014.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.513;DP=90;Dels=0.00;FS=0.816;HRun=0;HaplotypeScore=5.2818;MQ=60.00;MQ0=0;MQRankSum=-1.116;QD=11.28;ReadPosRankSum=-1.149;VQSLOD=3.9884;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,40:90:99:1045,0,1255 4 47938879 47938879 G A exonic CNGA1 synonymous SNV CNGA1:NM_001142564:exon10:c.C1839T:p.F613F,CNGA1:NM_000087:exon11:c.C1632T:p.F544F 0.039 0.0023 0.037 0.005 0.074 0.088 0.0659 0.0138 0.0304 0.0023 0.0868 0.0800 0.0820 0.0887 0.061 0.017 0.084 0.043 0.057 rs17573673 . . Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000378179.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0662 0.0128 0.0313 0.0797 0.0032 0.0848 0.0824 0.0698 0.0889 0.0648 0.0127 0.0394 0.0894 0.0037 0.0864 0.0967 0.0765 het 2681.27 201 4 47938879 . G A 2681.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.648;DP=201;Dels=0.00;FS=1.122;HRun=2;HaplotypeScore=6.0060;MQ=58.34;MQ0=0;MQRankSum=0.476;QD=13.34;ReadPosRankSum=-0.411;VQSLOD=4.8361;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,100:201:99:2711,0,2421 4 48115264 48115264 C T exonic TXK nonsynonymous SNV TXK:NM_003328:exon3:c.G134A:p.R45H 0.17 0.026 0.34 0.069 0.37 0.16 0.3004 0.0692 0.4365 0.0813 0.3334 0.3665 0.2731 0.1861 0.27 0.08 0.37 0.2 0.31 rs7658300 COSM3736349 1(skin) . . . . . . . . . . . 0.245 0.174 T 0.0 0.026 B 0.0 0.013 B 0.527 0.052 N 1 0.090 P 0.145 0.088 N -0.85 0.744 T 0.94 0.021 N 0.022 0.330 -1.077 0.079 T 0.000 0.000 T . . . -0.749 0.043 0.056 0.804 0.128 0.005 0.025 N c -1.839 -1.919 1.000 0.480 0.554 0.246 0 -7.49 0.012 -4.399 0.003 -1.826 0.006 0.000 0.063 0.000 0.016 9.289 0.367 . . . 0.3100 0.0633 0.4378 0.3214 0.0780 0.3360 0.3688 0.3151 0.1863 0.2596 0.0672 0.3962 0.3278 0.0779 0.3387 0.3601 0.3194 het 2152.83 173 4 48115264 . C T 2152.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.372;DP=173;Dels=0.00;FS=1.893;HRun=0;HaplotypeScore=8.8812;MQ=59.49;MQ0=0;MQRankSum=0.169;QD=12.44;ReadPosRankSum=-0.190;VQSLOD=4.6287;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,94:173:99:2183,0,1913 4 48165757 48165757 G A exonic TEC synonymous SNV TEC:NM_003215:exon8:c.C699T:p.Y233Y 0.05 0.076 0.04 . 0.05 0.073 0.0826 0.1136 0.0645 0.0009 0.0673 0.0909 0.0503 0.0772 0.062 0.076 0.055 0.022 0.016 rs16861083 COSM447909 1(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0445 0.0750 0.0186 0.0618 0.0006 0.0361 0.0511 0.0507 0.0600 0.0611 0.0873 0.0334 0.0563 0.0012 0.0436 0.0592 0.0418 het 159.53 16 4 48165757 . G A 159.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.943;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8295;MQ=50.97;MQ0=0;MQRankSum=0.683;QD=9.97;ReadPosRankSum=0.788;VQSLOD=2.3379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:190,0,208 4 48172266 48172266 G A exonic TEC synonymous SNV TEC:NM_003215:exon5:c.C453T:p.S151S 0.52 0.34 0.49 0.89 0.36 0.57 0.4227 0.3331 0.4959 0.8913 0.3770 0.3458 0.4267 0.5105 0.34 0.34 0.34 0.47 0.34 rs2271173 COSM5019134 11(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4239 0.3295 0.4859 0.2911 0.8928 0.3799 0.3442 0.4187 0.5076 0.3866 0.3338 0.4868 0.2980 0.9109 0.3918 0.3556 0.3885 het 1286.34 128 4 48172266 . G A 1286.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.683;DP=128;Dels=0.00;FS=0.667;HRun=0;HaplotypeScore=2.3883;MQ=59.82;MQ0=0;MQRankSum=1.016;QD=10.05;ReadPosRankSum=-0.065;VQSLOD=6.3855;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1316,0,2010 4 48492769 48492769 A T exonic ZAR1 nonsynonymous SNV ZAR1:NM_175619:exon1:c.A461T:p.Q154L 0.39 0.17 0.57 0.45 0.51 0.37 0.5481 0.2956 0.6617 0.5664 0.5846 0.5571 0.5862 0.4821 0.32 0.17 0.39 . 0.016 rs74929644 COSM4159095 1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.081 0.334 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0.55 0.145 N . . . -1.29 0.324 N 0.064 0.052 -0.896 0.484 T 0.000 0.000 T . . . -1.265 0.023 0.005 0.570 0.055 0.040 0.093 N c -1.535 -1.629 1.000 0.500 0.598 0.340 0 -6.17 0.019 -0.075 0.113 -0.394 0.063 0.000 0.063 0.000 0.016 0.988 0.013 . ENSG00000109180.10|ENSG00000145248.6|ENSG00000109180.10|ENSG00000109180.10|ENSG00000109180.10|ENSG00000109180.10|ENSG00000109180.10|ENSG00000145248.6|ENSG00000109180.10 Artery_Aorta|Artery_Aorta|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Skin_Sun_Exposed_Lower_leg 0.4285 0.1756 0.5891 0.3745 0.4597 0.4633 0.4384 0.4616 0.3330 0.3980 0.2026 0.6118 0.4167 0.4808 0.5030 0.4614 0.4844 het 210.72 12 4 48492769 . A T 210.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.738;QD=17.56;ReadPosRankSum=1.159;VQSLOD=10.9112;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:1,11:12:17.51:241,0,18 4 48582909 48582909 G A exonic FRYL synonymous SNV FRYL:NM_015030:exon22:c.C2232T:p.S744S 0.39 0.17 0.57 0.45 0.52 0.35 0.4655 0.2070 0.6229 0.4992 0.5080 0.4941 0.5044 0.3559 0.39 0.2 0.48 0.34 0.45 rs4695391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4708 0.2072 0.6248 0.4535 0.4889 0.4977 0.4853 0.5013 0.3539 0.4050 0.2100 0.6232 0.4636 0.4814 0.5075 0.4683 0.4754 het 1642.77 159 4 48582909 . G A 1642.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.639;DP=159;Dels=0.00;FS=1.326;HRun=2;HaplotypeScore=3.3225;MQ=59.27;MQ0=0;MQRankSum=-0.303;QD=10.33;ReadPosRankSum=0.054;VQSLOD=6.3856;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,71:159:99:1673,0,2489 4 48588742 48588742 C T exonic FRYL synonymous SNV FRYL:NM_015030:exon19:c.G1644A:p.G548G 0.53 0.62 0.35 0.53 0.46 0.62 0.4876 0.6150 0.3008 0.4710 0.4714 0.4749 0.4489 0.6108 0.53 0.62 0.49 0.54 0.48 rs34558821 COSM4003091 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4777 0.6061 0.2919 0.5074 0.4744 0.4790 0.4796 0.4529 0.6047 0.5256 0.6171 0.3098 0.5 0.4802 0.4733 0.5044 0.4887 het 411.99 60 4 48588742 . C T 411.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.160;DP=60;Dels=0.00;FS=3.851;HRun=0;HaplotypeScore=0.9332;MQ=59.38;MQ0=0;MQRankSum=1.303;QD=6.87;ReadPosRankSum=-0.227;VQSLOD=5.1773;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,19:60:99:442,0,1161 4 49063872 49063872 C A exonic CWH43 nonsynonymous SNV CWH43:NM_001286791:exon16:c.C1984A:p.H662N,CWH43:NM_025087:exon16:c.C2065A:p.H689N 0.48 0.2 0.75 0.37 0.75 0.49 0.6524 0.2630 0.8141 0.3925 0.7352 0.7329 0.7090 0.5470 0.56 0.28 0.71 0.4 0.32 rs1051447 COSM4159099 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . 0.373 0.232 T 0.961 0.535 D 0.691 0.520 P 0.004 0.338 N 0.084 0.365 P 2.215 0.627 M 1.55 0.425 T -1.78 0.420 N 0.177 0.215 -1.000 0.298 T 0.000 0.000 T . . . 4.890 0.657 24.9 0.985 0.419 0.862 0.452 D c 0.526 0.521 0.003 0.096 0.487 0.133 0 4.59 0.561 4.073 0.570 0.789 0.320 1.000 0.715 0.997 0.653 13.203 0.590 . . . 0.6552 0.2404 0.7908 0.7285 0.3543 0.7369 0.7187 0.6986 0.5396 0.5785 0.2630 0.7764 0.7682 0.4060 0.7449 0.7193 0.7037 hom 694.11 27 4 49063872 . C A 694.11 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.04;MQ0=0;QD=25.71;VQSLOD=7.4504;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:54.17:727,54,0 4 52938243 52938243 T C exonic SPATA18 nonsynonymous SNV SPATA18:NM_001346103:exon2:c.T4C:p.S2P,SPATA18:NM_001346102:exon4:c.T268C:p.S90P,SPATA18:NM_001297608:exon5:c.T583C:p.S195P,SPATA18:NM_145263:exon6:c.T679C:p.S227P 0.38 0.084 0.62 0.4 0.64 0.34 0.5554 0.1566 0.6314 0.4024 0.5742 0.6600 0.5795 0.4000 0.48 0.17 0.64 0.27 0.58 rs3860707 COSM3927814;COSM3927815 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . 0.207 0.198 T 0.378 0.325 B 0.192 0.348 B 0.058 0.225 N 1 0.090 P 2.395 0.694 M 1.5 0.312 T -2.19 0.496 N 0.18 0.350 -1.012 0.263 T 0.000 0.000 T . . . -0.612 0.049 0.117 0.926 0.214 0.043 0.097 N c -1.269 -1.415 0.004 0.105 0.638 0.428 0 -3.84 0.040 0.440 0.212 0.014 0.141 0.000 0.063 0.000 0.016 16.528 0.841 . . . 0.5635 0.1502 0.6354 0.5600 0.4005 0.5794 0.6649 0.5995 0.3969 0.4910 0.1596 0.6211 0.5530 0.4061 0.5576 0.6633 0.5746 het 2201.96 168 4 52938243 . T C 2201.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.244;DP=168;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4053;MQ=59.27;MQ0=0;MQRankSum=-0.116;QD=13.11;ReadPosRankSum=-0.950;VQSLOD=5.5598;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,82:168:99:2232,0,2018 4 54011603 54011603 C T exonic SCFD2 synonymous SNV SCFD2:NM_152540:exon5:c.G1458A:p.T486T 0.13 0.014 0.17 0.23 0.076 0.19 0.1148 0.0256 0.2500 0.2410 0.1182 0.0716 0.1112 0.1837 0.053 0.024 0.068 0.098 0.066 rs17082453 COSM4003095 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1214 0.0250 0.2377 0.0832 0.2390 0.1214 0.0691 0.0983 0.1824 0.0796 0.0275 0.2088 0.0828 0.2599 0.1207 0.0721 0.1022 het 1634.41 114 4 54011603 . C T 1634.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.845;DP=114;Dels=0.00;FS=2.442;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;MQRankSum=-1.043;QD=14.34;ReadPosRankSum=0.703;VQSLOD=6.2767;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,55:114:99:1664,0,1616 4 54966667 54966667 C T exonic GSX2 synonymous SNV GSX2:NM_133267:exon1:c.C156T:p.S52S 0.6 0.29 0.72 0.84 0.61 0.67 0.6340 0.3386 0.7847 0.8365 0.6543 0.6221 0.6233 0.6395 0.52 0.34 0.62 0.3 0.48 rs3194383 COSM3760660 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6411 0.3289 0.7767 0.5575 0.8347 0.6431 0.6212 0.6310 0.6363 0.5630 0.3455 0.7566 0.5563 0.8375 0.6556 0.6207 0.6650 hom 1259.62 40 4 54966667 . C T 1259.62 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.49;VQSLOD=13.8587;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1293,108,0 4 55130078 55130078 T C exonic PDGFRA synonymous SNV PDGFRA:NM_001347827:exon4:c.T612C:p.N204N,PDGFRA:NM_001347829:exon4:c.T612C:p.N204N,PDGFRA:NM_001347830:exon4:c.T651C:p.N217N,PDGFRA:NM_006206:exon4:c.T612C:p.N204N,PDGFRA:NM_001347828:exon5:c.T687C:p.N229N 0.24 0.28 0.35 0.2 0.12 0.25 0.1796 0.2588 0.4349 0.1826 0.1240 0.1174 0.1567 0.2250 0.17 0.25 0.12 0.28 0.074 rs2229307 COSM4416371 1(haematopoietic_and_lymphoid_tissue);6(soft_tissue);3(large_intestine) Benign|Benign|Benign not_specified|Idiopathic_hypereosinophilic_syndrome|Gastrointestinal_stromal_tumor RCV000252228.1|RCV000339285.1|RCV000403882.1 MedGen|MedGen:OMIM:Orphanet|MeSH:MedGen:OMIM:Orphanet CN169374|C0206141:607685:ORPHA3260|D046152:C0238198:606764:ORPHA44890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1855 0.2587 0.4145 0.0715 0.1776 0.1241 0.1210 0.1578 0.2225 0.1677 0.2562 0.3759 0.07 0.1780 0.1216 0.1175 0.1487 het 714.59 67 4 55130078 . T C 714.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.461;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7719;MQ=59.66;MQ0=0;MQRankSum=1.355;QD=10.67;ReadPosRankSum=-0.700;VQSLOD=6.0499;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,30:67:99:745,0,1017 4 55131118 55131118 C T exonic PDGFRA nonsynonymous SNV PDGFRA:NM_001347827:exon5:c.C661T:p.L221F,PDGFRA:NM_001347829:exon5:c.C661T:p.L221F,PDGFRA:NM_001347830:exon5:c.C700T:p.L234F,PDGFRA:NM_006206:exon5:c.C661T:p.L221F,PDGFRA:NM_001347828:exon6:c.C736T:p.L246F 0.0016 . . . 0.004 0.0041 0.0038 0.0010 0.0017 0 0.0023 0.0054 0.0022 0.0030 0.0033 0.0002 0.0049 0.011 0.016 rs139913632 . . Uncertain significance|not provided|other|Likely benign not_provided|not_specified|Gastrointestinal_stromal_tumor|Idiopathic_hypereosinophilic_syndrome RCV000034723.1|RCV000121797.1|RCV000204480.4|RCV000290148.1 MedGen|MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN221809|CN169374|D046152:C0238198:606764:ORPHA44890|C0206141:607685:ORPHA3260 . . . . . . 0.053 0.388 T 0.358 0.320 B 0.246 0.371 B 0.270 0.038 U 1.000 0.090 N 0.895 0.225 L -0.93 0.752 T -0.83 0.227 N 0.092 0.104 -0.643 0.630 T 0.271 0.642 T 0.031 0.536 D 2.378 0.347 18.68 0.994 0.632 0.357 0.251 N c -0.350 -0.297 0.999 0.394 0.598 0.340 0 4.38 0.519 0.908 0.280 0.892 0.403 0.000 0.063 0.037 0.154 17.459 0.875 Immunoglobulin-like domain . . 0.0034 0.0010 0.0016 0.0001 0 0.0018 0.0057 0.0022 0.0030 0.0036 0.0008 0 0 0 0.0026 0.0061 0.0041 het 2250.34 178 4 55131118 . C T 2250.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.252;DP=178;Dels=0.00;FS=1.217;HRun=2;HaplotypeScore=2.7932;MQ=59.73;MQ0=0;MQRankSum=0.198;QD=12.64;ReadPosRankSum=-0.841;VQSLOD=4.7823;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,89:178:99:2280,0,2298 4 55133726 55133726 T G exonic PDGFRA synonymous SNV PDGFRA:NM_001347827:exon7:c.T939G:p.G313G,PDGFRA:NM_001347829:exon7:c.T939G:p.G313G,PDGFRA:NM_001347830:exon7:c.T978G:p.G326G,PDGFRA:NM_006206:exon7:c.T939G:p.G313G,PDGFRA:NM_001347828:exon8:c.T1014G:p.G338G 0.23 0.27 0.35 0.2 0.12 0.25 0.1775 0.2537 0.4315 0.1818 0.1245 0.1151 0.1534 0.2242 0.16 0.25 0.12 0.27 0.074 rs4358459 COSM1666925 1(haematopoietic_and_lymphoid_tissue);6(soft_tissue);1(oesophagus);3(large_intestine);1(central_nervous_system) Benign|Benign|Benign not_specified|Idiopathic_hypereosinophilic_syndrome|Gastrointestinal_stromal_tumor RCV000244224.1|RCV000322335.1|RCV000377030.1 MedGen|MedGen:OMIM:Orphanet|MeSH:MedGen:OMIM:Orphanet CN169374|C0206141:607685:ORPHA3260|D046152:C0238198:606764:ORPHA44890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1841 0.2564 0.4122 0.0668 0.1783 0.1241 0.1195 0.1546 0.2227 0.1669 0.2557 0.3747 0.0662 0.1782 0.1219 0.1162 0.1472 het 1121.49 106 4 55133726 . T G 1121.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.447;DP=106;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7825;MQ=59.37;MQ0=0;MQRankSum=0.202;QD=10.58;ReadPosRankSum=-0.939;VQSLOD=6.6024;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,44:106:99:1151,0,1499 4 55139771 55139771 T C exonic PDGFRA nonsynonymous SNV PDGFRA:NM_001347827:exon10:c.T1432C:p.S478P,PDGFRA:NM_001347829:exon10:c.T1432C:p.S478P,PDGFRA:NM_001347830:exon10:c.T1471C:p.S491P,PDGFRA:NM_006206:exon10:c.T1432C:p.S478P,PDGFRA:NM_001347828:exon11:c.T1507C:p.S503P 0.2 0.24 0.24 0.17 0.11 0.23 0.1516 0.2325 0.2998 0.1457 0.1231 0.1027 0.1498 0.2087 0.14 0.23 0.1 0.24 0.057 rs35597368 COSM5008347 4(soft_tissue);2(large_intestine) Benign|Benign|Benign|Benign not_provided|not_specified|Gastrointestinal_stromal_tumor|Idiopathic_hypereosinophilic_syndrome RCV000034716.1|RCV000121780.2|RCV000326887.1|RCV000381487.1 MedGen|MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN221809|CN169374|D046152:C0238198:606764:ORPHA44890|C0206141:607685:ORPHA3260 . . . . . . 0.305 0.142 T 0.0 0.026 B 0.0 0.013 B 0.234 0.035 N 1 0.090 P -0.345 0.033 N -0.95 0.754 T -0.16 0.095 N 0.092 0.091 -1.098 0.043 T 0.000 0.000 T . . . -0.578 0.051 0.142 0.658 0.077 0.007 0.030 N c -1.510 -1.466 1.000 0.409 0.447 0.083 0 0.811 0.178 -1.151 0.033 -0.364 0.068 0.000 0.063 0.000 0.016 6.025 0.188 . . . 0.1538 0.2356 0.2857 0.0586 0.1430 0.1224 0.1054 0.1344 0.2072 0.1473 0.2301 0.2596 0.0497 0.1338 0.1224 0.1024 0.1424 het 2449.79 157 4 55139771 . T C 2449.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.179;DP=157;Dels=0.00;FS=3.994;HRun=3;HaplotypeScore=4.0810;MQ=58.87;MQ0=0;MQRankSum=-1.666;QD=15.60;ReadPosRankSum=0.247;VQSLOD=4.1271;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,96:157:99:2480,0,1511 4 55141055 55141055 A G exonic PDGFRA synonymous SNV PDGFRA:NM_001347827:exon12:c.A1701G:p.P567P,PDGFRA:NM_001347829:exon12:c.A1701G:p.P567P,PDGFRA:NM_001347830:exon12:c.A1740G:p.P580P,PDGFRA:NM_006206:exon12:c.A1701G:p.P567P,PDGFRA:NM_001347828:exon13:c.A1776G:p.P592P 0.96 0.84 0.99 1. 1. 1. 0.9880 0.8821 0.9921 1 0.9998 0.9983 0.9890 0.9996 0.96 0.88 1. 0.92 1. rs1873778 . . Benign|Benign|Benign not_specified|Gastrointestinal_stromal_tumor|Idiopathic_hypereosinophilic_syndrome RCV000250036.1|RCV000281727.1|RCV000385643.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|D046152:C0238198:606764:ORPHA44890|C0206141:607685:ORPHA3260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9903 0.8849 0.9912 0.9947 0.9999 1.0000 0.9982 0.9881 0.9996 0.9677 0.8906 0.9881 0.9834 0.9994 1 0.9986 0.9908 hom 3371.69 106 4 55141055 . A G 3371.69 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=31.81;VQSLOD=9.6119;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3371,280,0 4 55143577 55143577 G A exonic PDGFRA synonymous SNV PDGFRA:NM_001347827:exon13:c.G1809A:p.A603A,PDGFRA:NM_001347829:exon13:c.G1809A:p.A603A,PDGFRA:NM_001347830:exon13:c.G1848A:p.A616A,PDGFRA:NM_006206:exon13:c.G1809A:p.A603A,PDGFRA:NM_001347828:exon14:c.G1884A:p.A628A 0.23 0.34 0.27 0.17 0.11 0.24 0.1583 0.3132 0.3193 0.1485 0.1128 0.0988 0.1487 0.2120 0.17 0.3 0.099 0.29 0.041 rs10028020 COSM4417622 1(haematopoietic_and_lymphoid_tissue);5(soft_tissue);1(skin);2(large_intestine) Benign|Benign|Benign not_specified|Gastrointestinal_stromal_tumor|Idiopathic_hypereosinophilic_syndrome RCV000242800.1|RCV000278036.1|RCV000342427.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|D046152:C0238198:606764:ORPHA44890|C0206141:607685:ORPHA3260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1588 0.3127 0.3016 0.0589 0.1453 0.1119 0.1021 0.1337 0.2107 0.1664 0.3054 0.2763 0.0497 0.1379 0.1125 0.0999 0.1337 het 1256.97 107 4 55143577 . G A 1256.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.433;DP=107;Dels=0.00;FS=0.732;HRun=0;HaplotypeScore=0.9989;MQ=59.22;MQ0=0;MQRankSum=-0.495;QD=11.75;ReadPosRankSum=0.788;VQSLOD=5.8493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1287,0,1225 4 55152040 55152040 C T exonic PDGFRA synonymous SNV PDGFRA:NM_001347829:exon18:c.C2472T:p.V824V,PDGFRA:NM_001347830:exon18:c.C2511T:p.V837V,PDGFRA:NM_006206:exon18:c.C2472T:p.V824V,PDGFRA:NM_001347828:exon19:c.C2547T:p.V849V 0.24 0.34 0.28 0.17 0.15 0.24 0.1820 0.3304 0.3296 0.1431 0.1275 0.1350 0.1619 0.2185 0.2 0.31 0.14 0.3 0.098 rs2228230 COSM22413 2(skin);2(large_intestine);2(central_nervous_system);12(haematopoietic_and_lymphoid_tissue);1(endometrium);17(soft_tissue) Benign|Benign|Benign not_specified|Idiopathic_hypereosinophilic_syndrome|Gastrointestinal_stromal_tumor RCV000247800.1|RCV000275201.1|RCV000369832.1 MedGen|MedGen:OMIM:Orphanet|MeSH:MedGen:OMIM:Orphanet CN169374|C0206141:607685:ORPHA3260|D046152:C0238198:606764:ORPHA44890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1824 0.3303 0.3142 0.0743 0.1398 0.1259 0.1416 0.1601 0.2165 0.1941 0.3254 0.3026 0.0633 0.1316 0.1271 0.1392 0.1582 het 2703.24 249 4 55152040 . C T 2703.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.280;DP=249;DS;Dels=0.00;FS=5.419;HRun=1;HaplotypeScore=2.7853;MQ=59.76;MQ0=0;MQRankSum=-0.004;QD=10.86;ReadPosRankSum=-2.198;VQSLOD=4.5925;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:142,107:249:99:2733,0,4109 4 55161391 55161391 T C exonic PDGFRA synonymous SNV PDGFRA:NM_001347829:exon23:c.T3222C:p.D1074D,PDGFRA:NM_001347830:exon23:c.T3261C:p.D1087D,PDGFRA:NM_006206:exon23:c.T3222C:p.D1074D,PDGFRA:NM_001347828:exon24:c.T3297C:p.D1099D 1. 0.99 1. 1. 1. 1. 0.9990 0.9896 0.9998 0.9999 1 1.0000 1 0.9995 1. 0.99 1. 0.99 1. rs7685117 . . Benign|Benign|Benign not_specified|Gastrointestinal_stromal_tumor|Idiopathic_hypereosinophilic_syndrome RCV000243112.1|RCV000344752.1|RCV000403157.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|D046152:C0238198:606764:ORPHA44890|C0206141:607685:ORPHA3260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9992 0.9898 0.9997 1 0.9999 1 0.9999 0.9998 0.9995 0.9980 0.9929 1 1 1 1 1 1 hom 7389.68 247 4 55161391 . T C 7389.68 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0730;MQ=59.10;MQ0=0;QD=29.92;VQSLOD=6.9701;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:7388,617,0 4 56309992 56309992 A G exonic CLOCK synonymous SNV CLOCK:NM_004898:exon20:c.T1764C:p.N588N,CLOCK:NM_001267843:exon21:c.T1764C:p.N588N 0.72 0.75 0.71 0.67 0.65 0.82 0.6958 0.7353 0.7524 0.6889 0.7459 0.6470 0.7048 0.8113 0.66 0.73 0.62 0.76 0.54 rs3736544 COSM1131106 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6962 0.7378 0.7474 0.6597 0.6799 0.7452 0.6412 0.6730 0.8080 0.6942 0.7339 0.7644 0.6324 0.6483 0.7358 0.6645 0.6827 het 1421.98 107 4 56309992 . A G 1421.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.280;DP=107;Dels=0.00;FS=1.628;HRun=0;HaplotypeScore=2.7747;MQ=58.33;MQ0=0;MQRankSum=-1.325;QD=13.29;ReadPosRankSum=0.570;VQSLOD=4.8149;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,52:107:99:1452,0,1373 4 56820412 56820412 G A exonic CEP135 nonsynonymous SNV CEP135:NM_025009:exon4:c.G335A:p.R112H 0.012 0.0015 0.011 . 0.044 0.0082 0.0286 0.0079 0.0123 0 0.0359 0.0425 0.0222 0.0092 0.031 0.0086 0.042 0.022 0.0082 rs77591659 . . Benign not_specified RCV000116675.1 MedGen CN169374 . . . . . . 0.682 0.044 T 0.002 0.090 B 0.001 0.040 B 0.004 0.342 N 1.000 0.090 N -1.285 0.007 N 1.01 0.411 T 1.74 0.007 N 0.004 0.002 -1.052 0.138 T 0.009 0.032 T . . . -0.391 0.062 0.407 0.374 0.024 0.545 0.294 D c -0.992 -0.884 0.991 0.322 0.651 0.465 0 -0.452 0.115 2.080 0.410 0.106 0.201 0.970 0.340 0.886 0.372 5.334 0.151 . . . 0.0288 0.0074 0.0165 0.0278 0 0.0325 0.0437 0.0302 0.0096 0.0281 0.0089 0.0263 0.0298 0.0006 0.0352 0.0407 0.0275 het 748.31 76 4 56820412 . G A 748.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.972;DP=76;Dels=0.00;FS=4.661;HRun=0;HaplotypeScore=6.9657;MQ=58.08;MQ0=0;MQRankSum=0.237;QD=9.85;ReadPosRankSum=-0.132;VQSLOD=4.0804;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,32:76:99:778,0,1102 4 56874517 56874517 A C exonic CEP135 nonsynonymous SNV CEP135:NM_025009:exon18:c.A2305C:p.I769L 0.14 0.087 0.12 0.091 0.27 0.14 0.2095 0.1174 0.1116 0.1017 0.2850 0.2615 0.1807 0.1527 0.21 0.12 0.26 0.15 0.18 rs3214045 . . other not_specified RCV000116668.3 MedGen CN169374 . . . . . . 0.715 0.040 T 0.0 0.026 B 0.0 0.013 B 0.580 0.111 N 1 0.090 P 0.46 0.130 N 2.33 0.165 T 0.33 0.039 N 0.013 0.002 -0.903 0.477 T 0.000 0.000 T . . . -2.628 0.003 0.001 0.361 0.023 0.015 0.048 N c -2.240 -2.193 0.898 0.260 0.651 0.465 0 -6.14 0.019 -0.809 0.046 -4.689 0.000 0.089 0.223 0.004 0.083 7.631 0.272 . . . 0.2075 0.1110 0.1185 0.1887 0.1027 0.2923 0.2633 0.2083 0.1502 0.2066 0.1162 0.1348 0.1755 0.1068 0.2890 0.2536 0.2357 hom 3217.62 116 4 56874517 . A C 3217.62 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.74;VQSLOD=13.7064;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3251,238,0 4 57181629 57181629 C T exonic KIAA1211 nonsynonymous SNV KIAA1211:NM_020722:exon8:c.C1961T:p.P654L 0.2 0.14 0.2 0.25 0.28 0.15 0.2415 0.1643 0.1657 0.2695 0.2300 0.2823 0.2696 0.1679 0.0041 0.0013 0.0055 0.16 0.041 rs61750793 COSM3760670 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.649 0.049 T 0.005 0.119 B 0.002 0.080 B . . . 1.000 0.198 P 1.265 0.321 L 4.66 0.018 T -1.68 0.401 N 0.068 0.055 -0.953 0.405 T 0.000 0.000 T . . . -0.458 0.058 0.279 0.598 0.062 0.250 0.223 N c -1.375 -1.406 0.017 0.129 0.696 0.567 0 -0.764 0.104 0.578 0.233 -2.551 0.002 0.004 0.165 0.000 0.016 4.074 0.093 . ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9 Colon_Transverse|Esophagus_Mucosa|Lung|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.2398 0.1559 0.1703 0.3446 0.2571 0.2363 0.2799 0.2629 0.1705 0.2405 0.1611 0.1874 0.3642 0.2741 0.2340 0.2838 0.2602 het 664.91 45 4 57181629 . C T 664.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.033;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4764;MQ=58.97;MQ0=0;MQRankSum=0.897;QD=14.78;ReadPosRankSum=-1.328;VQSLOD=5.6159;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:695,0,583 4 57181632 57181632 G C exonic KIAA1211 nonsynonymous SNV KIAA1211:NM_020722:exon8:c.G1964C:p.R655P 0.99 0.95 1. 1. 1. 1. 0.9957 0.9474 0.9978 0.9998 1 0.9999 0.9965 1 0.98 0.95 1. 0.97 0.48 rs7672073 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P -2.24 0.001 N 4.49 0.021 T 2.59 0.003 N 0.017 0.107 -1.018 0.244 T 0.000 0.000 T . . . 1.408 0.232 12.83 0.313 0.018 0.003 0.014 N c -1.300 -1.177 0.321 0.194 0.696 0.567 0 3.64 0.407 2.958 0.486 -0.028 0.127 0.040 0.208 0.001 0.043 9.632 0.388 . . . 0.9964 0.9466 0.9982 1 0.9998 1 0.9999 0.9981 0.9998 0.9848 0.9465 0.9976 1 1 1 1 0.9980 hom 1490.29 45 4 57181632 . G C 1490.29 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.4764;MQ=58.97;MQ0=0;QD=33.12;VQSLOD=8.2130;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1523,120,0 4 57181995 57181995 C T exonic KIAA1211 nonsynonymous SNV KIAA1211:NM_020722:exon8:c.C2327T:p.S776L 0.24 0.2 0.23 0.25 0.34 0.19 0.2959 0.2248 0.1908 0.2639 0.2562 0.3505 0.3218 0.2227 0.3 0.22 0.34 0.22 0.3 rs3796547 COSM149674 1(stomach);1(large_intestine) . . . . . . . . . . . 0.554 0.073 T 0.049 0.208 B 0.007 0.121 B . . . 1 0.090 P -0.895 0.014 N 2.85 0.106 T 1.01 0.014 N 0.029 0.059 -0.901 0.479 T 0.000 0.000 T . . . 1.845 0.283 15.25 0.912 0.198 0.011 0.040 N c -1.627 -1.645 0.052 0.149 0.706 0.609 0 -5.82 0.021 -0.456 0.068 -0.328 0.075 0.000 0.063 0.023 0.138 10.304 0.427 . ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9|ENSG00000157426.9 Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Whole_Blood 0.2963 0.2252 0.1991 0.4260 0.2561 0.2677 0.3533 0.3202 0.2288 0.3026 0.2388 0.2196 0.4636 0.2737 0.2640 0.3526 0.3125 hom 2142.75 64 4 57181995 . C T 2142.75 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;QD=33.48;VQSLOD=9.2988;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2176,178,0 4 57182647 57182647 G A exonic KIAA1211 synonymous SNV KIAA1211:NM_020722:exon8:c.G2979A:p.A993A 0.19 0.017 0.21 0.25 0.34 0.19 0.2795 0.0645 0.1805 0.2644 0.2630 0.3460 0.2993 0.2203 0.25 0.074 0.34 0.15 0.12 rs3822003 COSM3760671 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2793 0.0605 0.1868 0.4068 0.2552 0.2670 0.3469 0.3032 0.2243 0.2491 0.0665 0.1998 0.4371 0.2708 0.2646 0.3450 0.3016 hom 1755.54 54 4 57182647 . G A 1755.54 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.51;VQSLOD=9.7577;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1789,135,0 4 57182758 57182758 C T exonic KIAA1211 synonymous SNV KIAA1211:NM_020722:exon8:c.C3090T:p.D1030D 0.23 0.14 0.22 0.25 0.34 0.19 0.2973 0.1782 0.1915 0.2689 0.2642 0.3573 0.3240 0.2257 0.29 0.17 0.34 0.21 0.14 rs28559894 COSM447967 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2922 0.1668 0.1965 0.4274 0.2555 0.2681 0.3537 0.3192 0.2289 0.2843 0.1746 0.2160 0.46 0.2707 0.2652 0.3524 0.3133 hom 1447.84 44 4 57182758 . C T 1447.84 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=32.91;VQSLOD=8.6806;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1481,126,0 4 57796639 57796639 T C exonic REST nonsynonymous SNV REST:NM_001193508:exon4:c.T1615C:p.S539P,REST:NM_005612:exon4:c.T1615C:p.S539P 0.0026 . 0.0029 . 0.0099 0.001 0.0080 0.0025 0.0049 0 0.0012 0.0120 0.0023 0.0043 0.012 0.0023 0.017 0.011 0.016 rs61748754 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.185 0.170 N 1 0.090 N -1.685 0.004 N 0.84 0.475 T 1.74 0.006 N 0.024 0.007 -1.025 0.221 T 0.014 0.054 T . . . -0.993 0.032 0.016 0.060 0.000 0.010 0.038 N c -1.353 -1.197 0.997 0.351 0.732 0.924 0 3.75 0.421 0.560 0.230 -0.025 0.128 0.000 0.063 0.908 0.386 5.161 0.143 . . . 0.0083 0.0027 0.0055 0.0062 0 0.0014 0.0138 0.0081 0.0041 0.0081 0.0034 0.0048 0.0066 0 0.0017 0.0137 0.0041 het 760.07 48 4 57796639 . T C 760.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.900;DP=48;Dels=0.00;FS=4.200;HRun=1;HaplotypeScore=3.9618;MQ=56.66;MQ0=0;MQRankSum=0.021;QD=15.83;ReadPosRankSum=0.190;VQSLOD=2.6156;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,29:48:99:790,0,528 4 57839405 57839405 T C exonic NOA1 nonsynonymous SNV NOA1:NM_032313:exon3:c.A1424G:p.H475R 0.0002 . . . 0.001 . 0.0001 0 0 0 0 0.0002 0 0 0.0002 . 0.0002 . . rs199906201 . . . . . . . . . . . . . 0.533 0.069 T 0.0 0.026 B 0.0 0.013 B 0.002 0.009 N 1 0.090 N -1.67 0.004 N 1.59 0.288 T 0.33 0.039 N 0.018 0.004 -1.012 0.264 T 0.033 0.142 T 0.006 0.155 T -2.512 0.003 0.001 0.556 0.053 0.291 0.235 N c -1.630 -1.603 1.000 0.437 0.707 0.730 0 -3.37 0.046 -0.306 0.082 -1.783 0.007 0.000 0.063 0.000 0.016 11.351 0.486 Circularly permuted (CP)-type guanine nucleotide-binding (G) domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0001 0.0001 0 0 0 0 0.0003 0.0002 0 0.0001 0 0 0 0 0 0.0003 0 het 3202.46 239 4 57839405 . T C 3202.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.239;DP=239;DS;Dels=0.00;FS=2.885;HRun=0;HaplotypeScore=4.5348;MQ=59.28;MQ0=0;MQRankSum=2.578;QD=13.40;ReadPosRankSum=0.360;VQSLOD=3.0816;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:117,122:239:99:3232,0,2985 4 57843114 57843114 C G exonic NOA1 nonsynonymous SNV NOA1:NM_032313:exon1:c.G638C:p.G213A 0.0064 0.0008 0.0058 . 0.021 0.0061 0.0155 0.0038 0.0022 0 0.0330 0.0218 0.0203 0.0080 0.0092 0.0021 0.013 0.011 . rs200929636 . . . . . . . . . . . . . 0.181 0.219 T 0.435 0.339 B 0.057 0.248 B 0.107 0.196 N 0.994 0.423 D 1.545 0.392 L 1.52 0.307 T -0.11 0.087 N 0.049 0.030 -1.099 0.042 T 0.019 0.079 T . . . 0.290 0.122 5.601 0.655 0.076 0.264 0.227 N c -0.427 -0.395 1.000 0.747 0.442 0.072 0 4.52 0.546 1.001 0.292 0.860 0.375 0.005 0.169 0.398 0.254 8.477 0.320 Circularly permuted (CP)-type guanine nucleotide-binding (G) domain . . 0.0141 0.0029 0.0026 0.0041 0 0.0299 0.0220 0.0117 0.0079 0.0149 0.0038 0.0012 0.0033 0 0.0270 0.0208 0.0194 het 635.34 54 4 57843114 . C G 635.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.010;DP=54;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.6573;MQ=59.54;MQ0=0;MQRankSum=0.831;QD=11.77;ReadPosRankSum=0.331;VQSLOD=4.8676;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,26:54:99:665,0,592 4 57843320 57843320 A G exonic NOA1 synonymous SNV NOA1:NM_032313:exon1:c.T432C:p.C144C 1. 1. 1. 1. 1. 1. 0.9999 0.9993 0.9995 0.9994 1 1.0000 1 0.9999 . . . 0.56 0.38 rs4865167 COSM3749879 9(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1.0000 1 1 1 1.0000 1 1.0000 1 1 1 1 1 1 1 1 hom 401.93 13 4 57843320 . A G 401.93 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=30.92;VQSLOD=8.1554;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:435,36,0 4 57889677 57889677 C T exonic POLR2B synonymous SNV POLR2B:NM_001303268:exon18:c.C2472T:p.S824S,POLR2B:NM_000938:exon19:c.C2697T:p.S899S,POLR2B:NM_001303269:exon20:c.C2676T:p.S892S 0.55 0.46 0.64 0.68 0.58 0.44 0.5720 0.4687 0.6687 0.7108 0.5980 0.5682 0.5738 0.5011 0.55 0.49 0.58 0.73 0.54 rs1056364 COSM1131099 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5812 0.4701 0.6605 0.5555 0.7120 0.5940 0.5737 0.5675 0.5049 0.5570 0.4744 0.6244 0.58 0.6991 0.5948 0.5768 0.5551 hom 4616.04 148 4 57889677 . C T 4616.04 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8317;MQ=59.05;MQ0=0;QD=31.19;VQSLOD=9.7075;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:148:99:4615,373,0 4 62598689 62598689 C T exonic ADGRL3 synonymous SNV ADGRL3:NM_001322246:exon7:c.C612T:p.H204H,ADGRL3:NM_015236:exon7:c.C612T:p.H204H,ADGRL3:NM_001322402:exon8:c.C816T:p.H272H 0.79 0.89 0.77 0.95 0.62 0.68 0.6811 0.8645 0.7901 0.9387 0.6620 0.6023 0.6920 0.6870 0.69 0.86 0.6 0.79 . rs10434219 COSM1131097;COSM1131096;COSM1131098;COSM5019164 19(soft_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6852 0.8692 0.7846 0.6546 0.9401 0.6550 0.5971 0.6829 0.6927 0.7076 0.8564 0.7644 0.6291 0.9389 0.6582 0.6084 0.6691 het 799.99 78 4 62598689 . C T 799.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.329;DP=78;Dels=0.00;FS=3.020;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;MQRankSum=-0.077;QD=10.26;ReadPosRankSum=0.262;VQSLOD=5.7932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,34:78:99:830,0,1219 4 62758491 62758491 G A exonic ADGRL3 nonsynonymous SNV ADGRL3:NM_001322246:exon9:c.G1394A:p.R465Q,ADGRL3:NM_015236:exon9:c.G1394A:p.R465Q,ADGRL3:NM_001322402:exon10:c.G1598A:p.R533Q 0.0058 . 0.0014 0.001 0.016 0.011 0.0118 0.0020 0.0032 0 0.0044 0.0174 0.0078 0.0102 0.011 0.003 0.015 . . rs35106420 COSM1495849;COSM1495848;COSM1495847 1(kidney) . . . . . . . . . . . 0.4 0.162 T 0.684 0.520 P 0.045 0.387 B 0.003 0.360 N 0.928 0.369 D 0 0.065 N -0.25 0.670 T -1.1 0.312 N 0.274 0.370 -0.914 0.463 T 0.085 0.331 T . . . 2.801 0.398 21.4 0.994 0.648 0.945 0.612 D c 0.035 0.158 0.020 0.132 0.615 0.372 0 4.98 0.655 4.802 0.620 1.048 0.713 1.000 0.715 0.998 0.697 16.027 0.803 . . . 0.0108 0.0024 0.0042 0.0041 0 0.0057 0.0172 0.0115 0.0104 0.0085 0.0018 0.0024 0.0033 0 0.0066 0.0141 0.0103 het 2243.74 155 4 62758491 . G A 2243.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.875;DP=155;Dels=0.00;FS=0.657;HRun=0;HaplotypeScore=4.8748;MQ=59.29;MQ0=0;MQRankSum=-1.710;QD=14.48;ReadPosRankSum=-0.243;VQSLOD=4.0100;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,79:155:99:2274,0,1981 4 62800728 62800728 T C exonic ADGRL3 synonymous SNV ADGRL3:NM_001322246:exon13:c.T2079C:p.N693N,ADGRL3:NM_015236:exon13:c.T2079C:p.N693N,ADGRL3:NM_001322402:exon14:c.T2283C:p.N761N 0.68 0.8 0.62 0.59 0.73 0.61 0.7025 0.7931 0.5535 0.6096 0.7487 0.7400 0.7294 0.6292 0.77 0.8 0.75 0.71 . rs734644 COSM4003107;COSM4003109;COSM4415815;COSM4003108 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6951 0.7968 0.5659 0.6784 0.6070 0.7441 0.7436 0.7150 0.6251 0.7478 0.7994 0.5835 0.7233 0.6149 0.7453 0.7438 0.7248 hom 2523.43 83 4 62800728 . T C 2523.43 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=30.40;VQSLOD=9.1940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2556,196,0 4 62845388 62845388 G C exonic ADGRL3 synonymous SNV ADGRL3:NM_001322246:exon17:c.G2709C:p.R903R,ADGRL3:NM_015236:exon17:c.G2709C:p.R903R,ADGRL3:NM_001322402:exon18:c.G2913C:p.R971R 0.82 0.65 0.92 0.84 0.94 0.81 0.8888 0.6878 0.8923 0.8128 0.9162 0.9397 0.8911 0.8284 0.87 0.71 0.95 0.84 . rs1397547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8929 0.6894 0.8948 0.9210 0.8090 0.9148 0.9433 0.9120 0.8277 0.8595 0.7035 0.8935 0.9338 0.8085 0.9073 0.9388 0.8908 hom 7710.89 250 4 62845388 . G C 7710.89 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.662;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9826;MQ=59.30;MQ0=0;MQRankSum=1.296;QD=30.84;ReadPosRankSum=0.775;VQSLOD=5.4768;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7709,659,0 4 62845490 62845490 A G exonic ADGRL3 synonymous SNV ADGRL3:NM_001322246:exon17:c.A2811G:p.P937P,ADGRL3:NM_015236:exon17:c.A2811G:p.P937P,ADGRL3:NM_001322402:exon18:c.A3015G:p.P1005P 0.5 0.35 0.57 0.39 0.74 0.51 0.6273 0.4060 0.4647 0.3871 0.7007 0.7354 0.6707 0.5285 0.65 0.43 0.75 0.51 . rs1397548 COSM4003113;COSM4003115;COSM4415971;COSM4003114 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6260 0.4083 0.4867 0.6870 0.3843 0.6950 0.7417 0.6745 0.5254 0.6169 0.4187 0.5191 0.7152 0.3933 0.6998 0.7371 0.6704 hom 5248.53 162 4 62845490 . A G 5248.53 Mask AC=2;AF=1.00;AN=2;DP=162;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4408;MQ=58.35;MQ0=0;QD=32.40;VQSLOD=6.7810;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5248,409,0 4 66197804 66197804 C T exonic EPHA5 synonymous SNV EPHA5:NM_001281766:exon16:c.G2832A:p.G944G,EPHA5:NM_182472:exon16:c.G2829A:p.G943G,EPHA5:NM_001281765:exon17:c.G2898A:p.G966G,EPHA5:NM_001281767:exon17:c.G2898A:p.G966G,EPHA5:NM_001318761:exon17:c.G2691A:p.G897G,EPHA5:NM_004439:exon17:c.G2895A:p.G965G 0.33 0.089 0.31 0.46 0.37 0.47 0.3465 0.1293 0.2889 0.4200 0.3549 0.3588 0.3404 0.4322 0.28 0.14 0.36 0.26 0.35 rs7349683 COSM5619001 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3459 0.1239 0.2934 0.3425 0.4214 0.3442 0.3573 0.3415 0.4318 0.2977 0.1274 0.2888 0.3411 0.4289 0.3329 0.3694 0.3796 het 351.19 24 4 66197804 . C T 351.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.217;DP=24;Dels=0.00;FS=4.084;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.579;QD=14.63;ReadPosRankSum=-1.159;VQSLOD=6.0924;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,13:24:99:381,0,260 4 68374597 68374597 C T exonic CENPC synonymous SNV CENPC:NM_001812:exon10:c.G1839A:p.S613S 0.7 0.62 0.75 0.83 0.63 0.72 0.6546 0.6289 0.8130 0.8168 0.5861 0.6094 0.6578 0.6857 0.61 0.64 0.6 0.76 . rs1056789 COSM4415593 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6580 0.6290 0.8040 0.6474 0.8179 0.5741 0.6051 0.6521 0.6806 0.6150 0.6360 0.7572 0.6755 0.8240 0.5696 0.5803 0.6370 het 775.12 69 4 68374597 . C T 775.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DP=69;Dels=0.00;FS=4.978;HRun=0;HaplotypeScore=0.5784;MQ=58.44;MQ0=0;MQRankSum=0.067;QD=11.23;ReadPosRankSum=0.127;VQSLOD=5.1540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:805,0,1084 4 68380070 68380070 C T exonic CENPC nonsynonymous SNV CENPC:NM_001812:exon8:c.G1166A:p.G389D 0.025 0.0045 0.052 . 0.075 0.0061 0.0632 0.0154 0.0382 0 0.0567 0.0961 0.0528 0.0123 0.068 0.018 0.09 0.043 . rs1056787 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.876 0.072 N 1.000 0.090 P -0.405 0.030 N . . . 1.79 0.005 N 0.021 0.011 -1.008 0.274 T 0.002 0.005 T . . . -0.868 0.037 0.030 0.373 0.024 0.006 0.026 N c -1.329 -1.243 0.013 0.125 0.707 0.730 0 2.17 0.266 0.294 0.187 0.076 0.183 0.320 0.253 0.327 0.242 4.465 0.110 CENP-C\x2c middle DNMT3B-binding domain ENSG00000145241.6|ENSG00000145241.6|ENSG00000145241.6|ENSG00000145241.6|ENSG00000145241.6|ENSG00000145241.6 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.0577 0.0139 0.0369 0.0500 0 0.0535 0.0928 0.0665 0.0114 0.0540 0.0177 0.0513 0.0397 0 0.0665 0.0778 0.0631 het 354.10 31 4 68380070 . C T 354.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.143;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.79;MQ0=0;MQRankSum=1.364;QD=11.42;ReadPosRankSum=-1.759;VQSLOD=5.6881;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:384,0,405 4 68380215 68380215 G A exonic CENPC nonsynonymous SNV CENPC:NM_001812:exon8:c.C1021T:p.L341F 0.7 0.62 0.75 0.83 0.63 0.72 0.6572 0.6326 0.8143 0.8171 0.5866 0.6123 0.6595 0.6881 0.61 0.63 0.6 0.77 . rs11250 COSM4415927 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.115 0.285 T 0.971 0.552 D 0.641 0.503 P 0.762 0.096 N 1 0.090 P 1.7 0.440 L . . . -1.37 0.340 N 0.057 0.056 -0.952 0.406 T 0.000 0.000 T . . . 0.358 0.129 6.241 0.990 0.501 0.053 0.110 N c -0.458 -0.603 0.004 0.105 0.707 0.730 0 2.53 0.295 0.550 0.229 1.045 0.669 0.005 0.169 0.266 0.231 4.593 0.116 CENP-C\x2c middle DNMT3B-binding domain ENSG00000145241.6|ENSG00000145241.6|ENSG00000250075.1|ENSG00000035720.3 Cells_Transformed_fibroblasts|Nerve_Tibial|Pancreas|Testis 0.6580 0.6289 0.8039 0.6470 0.8176 0.5735 0.6050 0.6515 0.6814 0.6152 0.6361 0.7566 0.68 0.8234 0.5693 0.5807 0.6357 het 370.29 29 4 68380215 . G A 370.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DP=29;Dels=0.00;FS=1.637;HRun=2;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=1.331;QD=12.77;ReadPosRankSum=-0.938;VQSLOD=6.2662;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:400,0,395 4 68384008 68384008 C T exonic CENPC synonymous SNV CENPC:NM_001812:exon7:c.G696A:p.S232S 0.7 0.63 0.76 0.83 0.63 0.72 0.6176 0.6061 0.6810 0.7423 0.5587 0.5836 0.6395 0.6708 0.61 0.63 0.59 0.77 . rs355510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6385 0.6081 0.7884 0.6411 0.8004 0.5583 0.5751 0.6410 0.6639 0.6193 0.6495 0.7596 0.6755 0.8247 0.5699 0.5808 0.6380 het 147.50 19 4 68384008 . C T 147.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.359;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.482;QD=7.76;ReadPosRankSum=0.307;VQSLOD=10.5189;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:177,0,343 4 68442968 68442968 A G exonic STAP1 synonymous SNV STAP1:NM_001317769:exon4:c.A354G:p.T118T,STAP1:NM_012108:exon4:c.A354G:p.T118T 0.4 0.46 0.4 0.17 0.58 0.36 0.5180 0.4729 0.2982 0.1881 0.5795 0.6296 0.5122 0.3969 0.59 0.48 0.64 0.38 0.53 rs11556614 COSM3760695 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5083 0.4708 0.3094 0.5907 0.1825 0.5855 0.6283 0.5523 0.3934 0.5466 0.4814 0.3915 0.5728 0.1796 0.5959 0.6213 0.5421 hom 1841.85 65 4 68442968 . A G 1841.85 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.65;MQ0=0;QD=28.34;VQSLOD=8.1803;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1875,144,0 4 68447040 68447040 C T exonic STAP1 synonymous SNV STAP1:NM_001317769:exon5:c.C381T:p.N127N,STAP1:NM_012108:exon5:c.C381T:p.N127N 0.13 0.11 0.16 0.005 0.25 0.12 0.1923 0.1360 0.1160 0.0013 0.1752 0.2603 0.1759 0.1131 0.22 0.14 0.27 0.14 0.21 rs11556615 COSM3760696 1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1874 0.1331 0.1246 0.2297 0.0016 0.1752 0.2598 0.2276 0.1109 0.1854 0.1502 0.1539 0.2583 0.0019 0.1756 0.2278 0.1906 het 1518.59 156 4 68447040 . C T 1518.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.574;DP=156;Dels=0.00;FS=3.067;HRun=0;HaplotypeScore=1.5592;MQ=59.19;MQ0=0;MQRankSum=-0.013;QD=9.73;ReadPosRankSum=0.215;VQSLOD=6.5285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,62:156:99:1549,0,2382 4 68562365 68562365 A G exonic UBA6 synonymous SNV UBA6:NM_018227:exon2:c.T132C:p.Y44Y 0.18 0.19 0.23 0.17 0.26 0.082 0.2209 0.2010 0.2140 0.1777 0.2528 0.2563 0.2239 0.1047 0.24 0.2 0.26 0.23 0.2 rs17572160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2187 0.1993 0.2074 0.2078 0.1796 0.2508 0.2554 0.2252 0.1037 0.2289 0.2107 0.2112 0.2649 0.1766 0.2644 0.2389 0.2035 het 953.90 84 4 68562365 . A G 953.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.772;DP=84;Dels=0.00;FS=3.042;HRun=0;HaplotypeScore=1.7860;MQ=59.45;MQ0=0;MQRankSum=0.598;QD=11.36;ReadPosRankSum=-0.598;VQSLOD=6.6730;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,38:84:99:984,0,1159 4 68780399 68780399 A G exonic TMPRSS11A synonymous SNV TMPRSS11A:NM_001114387:exon9:c.T1002C:p.D334D,TMPRSS11A:NM_182606:exon9:c.T1011C:p.D337D 0.48 0.32 0.43 0.66 0.53 0.52 0.5341 0.3436 0.4683 0.6727 0.5871 0.5586 0.5264 0.5080 0.5 0.36 0.57 0.47 0.57 rs1371932 COSM3760697 5(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5352 0.3362 0.4639 0.4828 0.6727 0.5952 0.5630 0.5175 0.5094 0.5184 0.3477 0.4435 0.4570 0.6660 0.5893 0.5860 0.5874 het 1355.32 140 4 68780399 . A G 1355.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.665;DP=140;Dels=0.00;FS=1.372;HRun=0;HaplotypeScore=0.8667;MQ=58.23;MQ0=0;MQRankSum=-0.171;QD=9.68;ReadPosRankSum=0.705;VQSLOD=5.5067;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,60:140:99:1385,0,1982 4 68784774 68784774 T C exonic TMPRSS11A nonsynonymous SNV TMPRSS11A:NM_001114387:exon8:c.A869G:p.Q290R,TMPRSS11A:NM_182606:exon8:c.A878G:p.Q293R 0.73 0.86 0.58 0.82 0.63 0.67 0.6779 0.8276 0.5444 0.8299 0.6564 0.6674 0.6487 0.6501 0.74 0.84 0.68 0.74 0.75 rs353163 COSM4003117 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 1 0.090 P . . . -3.09 0.926 D 3.2 0.001 N 0.024 0.010 -0.930 0.442 T 0.000 0.000 T . . . -1.235 0.024 0.006 0.539 0.049 0.015 0.049 N c -1.001 -0.962 0.000 0.035 0.487 0.133 0 4.51 0.544 1.045 0.297 0.040 0.155 0.003 0.159 0.432 0.259 8.063 0.296 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000229009.3 Testis 0.6702 0.8313 0.5492 0.6146 0.8257 0.6628 0.6737 0.6402 0.6505 0.7336 0.8292 0.5467 0.5833 0.8249 0.6655 0.6997 0.6994 het 1893.42 151 4 68784774 . T C 1893.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.159;DP=151;DS;Dels=0.00;FS=0.626;HRun=1;HaplotypeScore=3.6985;MQ=59.57;MQ0=0;MQRankSum=-0.041;QD=12.54;ReadPosRankSum=-0.222;VQSLOD=6.0225;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,74:151:99:1923,0,2112 4 68810346 68810346 T C exonic TMPRSS11A nonsynonymous SNV TMPRSS11A:NM_001114387:exon3:c.A143G:p.K48R,TMPRSS11A:NM_182606:exon3:c.A143G:p.K48R 0.012 . 0.0086 0.003 0.022 0.029 0.0200 0.0038 0.0100 0.0007 0.0107 0.0256 0.0191 0.0282 0.013 0.003 0.019 0.011 . rs139010197 . . . . . . . . . . . . . 0.583 0.061 T 0.02 0.170 B 0.03 0.205 B 0.254 0.154 N 1 0.090 N 0 0.065 N 1.13 0.386 T -0.38 0.134 N 0.028 0.009 -1.025 0.220 T 0.020 0.084 T . . . -1.429 0.019 0.003 0.624 0.068 0.190 0.203 N c -1.165 -1.104 0.000 0.012 0.487 0.133 0 -1.35 0.086 0.353 0.197 -0.119 0.114 0.988 0.363 0.055 0.167 4.270 0.102 SEA domain . . 0.0190 0.0034 0.0102 0.0327 0.0004 0.0103 0.0250 0.0195 0.0274 0.0154 0.0040 0.0096 0.0331 0 0.0103 0.0242 0.0245 het 413.77 20 4 68810346 . T C 413.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.634;DP=20;Dels=0.00;FS=5.684;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.079;QD=20.69;ReadPosRankSum=-1.506;VQSLOD=2.6128;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,13:20:99:444,0,149 4 68812283 68812283 C T exonic TMPRSS11A synonymous SNV TMPRSS11A:NM_001114387:exon2:c.G18A:p.V6V,TMPRSS11A:NM_182606:exon2:c.G18A:p.V6V 0.62 0.25 0.6 0.81 0.78 0.78 0.7371 0.3065 0.5544 0.8238 0.7820 0.8120 0.7428 0.7695 0.66 0.34 0.83 0.53 0.76 rs11930532 COSM4003118 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7392 0.3014 0.5568 0.7929 0.8240 0.7842 0.8177 0.7357 0.7693 0.6761 0.3099 0.6074 0.7815 0.8242 0.7923 0.8399 0.7980 hom 1166.84 38 4 68812283 . C T 1166.84 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=30.71;VQSLOD=9.5231;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:96.29:1200,96,0 4 68995529 68995529 C T exonic TMPRSS11F nonsynonymous SNV TMPRSS11F:NM_207407:exon1:c.G10A:p.A4T 0.33 0.32 0.21 0.46 0.28 0.34 0.2981 0.3702 0.1746 0.4944 0.2990 0.2729 0.2841 0.3385 0.31 0.37 0.28 0.25 0.26 rs10030708 . . . . . . . . . . . . . 0.206 0.199 T 0.905 0.479 P 0.161 0.331 B 0.065 0.022 N 0.911 0.275 P 0 0.065 N -2.4 0.885 D 0.05 0.064 N 0.092 0.091 -0.983 0.344 T 0.000 0.000 T . . . 2.121 0.316 16.99 0.969 0.310 0.365 0.253 N c -0.531 -0.488 1.000 0.473 0.487 0.133 0 1.66 0.230 0.133 0.156 0.013 0.140 0.864 0.304 0.990 0.544 3.955 0.088 . ENSG00000229009.3 Esophagus_Mucosa 0.2937 0.3669 0.1804 0.2672 0.5012 0.2925 0.2766 0.2683 0.3406 0.3218 0.3701 0.1947 0.2550 0.5236 0.3057 0.2859 0.2943 hom 2919.74 99 4 68995529 . C T 2919.74 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=29.49;VQSLOD=8.6582;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2953,235,0 4 69094507 69094507 T A exonic TMPRSS11B nonsynonymous SNV TMPRSS11B:NM_182502:exon9:c.A1042T:p.T348S 0.72 0.43 0.6 0.99 0.73 0.9 0.7564 0.5121 0.5351 0.9956 0.8272 0.7684 0.7346 0.8641 0.69 0.52 0.78 0.61 0.7 rs2319797 . . . . . . . . . . . . . 0.442 0.092 T 0.316 0.311 B 0.076 0.269 B 0.329 0.141 N 1 0.090 P -0.035 0.050 N -3.04 0.924 D -0.56 0.170 N 0.078 0.069 -0.995 0.312 T 0.000 0.000 T . . . -0.632 0.048 0.104 0.507 0.044 0.073 0.131 N c -1.141 -1.159 0.000 0.029 0.554 0.246 0 0.489 0.160 -0.055 0.117 0.071 0.179 0.000 0.063 0.001 0.043 2.672 0.047 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000227725.2|ENSG00000187054.10|ENSG00000229009.3 Esophagus_Mucosa|Esophagus_Mucosa|Testis 0.7535 0.5077 0.5508 0.7017 0.9954 0.8264 0.7722 0.7182 0.8632 0.7271 0.5156 0.5925 0.6722 0.9914 0.8357 0.7998 0.8031 het 1612.34 124 4 69094507 . T A 1612.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.990;DP=124;Dels=0.00;FS=0.670;HRun=1;HaplotypeScore=2.8052;MQ=57.58;MQ0=0;MQRankSum=0.784;QD=13.00;ReadPosRankSum=0.378;VQSLOD=4.3363;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,66:124:99:1642,0,1372 4 69094575 69094575 T G exonic TMPRSS11B nonsynonymous SNV TMPRSS11B:NM_182502:exon9:c.A974C:p.D325A 0.99 0.98 1. 1. 1. 1. 0.9988 0.9873 0.9997 1 1 0.9999 1 1 1. 0.99 1. 1. 0.98 rs2319796 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.424 N 1.000 0.197 P -1.825 0.003 N -2.84 0.913 D 4.83 0.000 N 0.057 0.040 -0.909 0.471 T 0.000 0.000 T . . . 0.731 0.164 9.028 0.823 0.136 0.014 0.047 N c -1.127 -0.800 0.001 0.077 0.487 0.133 0 4.62 0.568 3.960 0.562 0.127 0.214 1.000 0.715 0.337 0.244 12.314 0.541 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9991 0.9880 0.9995 1 1 1 0.9999 0.9993 1.0000 0.9964 0.9874 0.9988 1 1 1 1 0.9990 hom 2543.72 83 4 69094575 . T G 2543.72 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;QD=30.65;VQSLOD=9.1822;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2577,199,0 4 69095197 69095197 T C exonic TMPRSS11B nonsynonymous SNV TMPRSS11B:NM_182502:exon8:c.A724G:p.I242V 0.72 0.43 0.6 0.99 0.73 0.9 0.7564 0.5127 0.5343 0.9955 0.8271 0.7684 0.7340 0.8631 0.69 0.52 0.78 0.61 0.68 rs12331141 . . . . . . . . . . . . . 0.615 0.054 T 0.003 0.102 B 0.008 0.127 B 0.482 0.122 N 1 0.090 P -0.28 0.037 N -2.44 0.888 D 0.34 0.038 N 0.058 0.041 -1.000 0.301 T 0.000 0.000 T . . . -1.402 0.019 0.003 0.675 0.081 0.688 0.337 D c -0.894 -0.849 0.000 0.044 0.487 0.133 0 0.639 0.168 1.521 0.353 1.049 0.752 0.928 0.320 0.451 0.263 4.989 0.135 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000227725.2|ENSG00000187054.10|ENSG00000229009.3 Esophagus_Mucosa|Esophagus_Mucosa|Testis 0.7533 0.5078 0.5506 0.7017 0.9952 0.8266 0.7721 0.7178 0.8622 0.7268 0.5145 0.5885 0.6722 0.9907 0.8357 0.7999 0.8027 het 1100.34 88 4 69095197 . T C 1100.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.003;DP=88;Dels=0.00;FS=2.905;HRun=0;HaplotypeScore=0.8667;MQ=59.58;MQ0=0;MQRankSum=-0.209;QD=12.50;ReadPosRankSum=-2.671;VQSLOD=5.5131;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,45:88:99:1130,0,1159 4 69203551 69203551 A T exonic YTHDC1 synonymous SNV YTHDC1:NM_001031732:exon3:c.T198A:p.S66S,YTHDC1:NM_001330698:exon3:c.T198A:p.S66S,YTHDC1:NM_133370:exon3:c.T198A:p.S66S 0.99 0.98 1. 1. 1. 1. 0.9978 0.9791 0.9984 1 1 0.9996 0.9978 0.9999 0.99 0.98 1. 0.98 . rs10213623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9805 0.9983 0.9963 1 1 0.9998 0.9989 1.0000 0.9947 0.9817 0.9988 1 1 1 0.9999 1 hom 3454.46 114 4 69203551 . A T 3454.46 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.90;MQ0=0;QD=30.30;VQSLOD=8.0856;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3454,268,0 4 69337325 69337325 C G exonic TMPRSS11E nonsynonymous SNV TMPRSS11E:NM_014058:exon5:c.C474G:p.H158Q 0.093 0.12 0.078 0.004 0.16 0.091 0.1180 0.1128 0.0579 0.0012 0.1519 0.1424 0.1092 0.1132 0.13 0.11 0.14 0.076 . rs2603188 COSM3760698 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.245 0.174 T 0.0 0.026 B 0.0 0.013 B 0.487 0.121 N 1 0.090 P 0 0.065 N 1.46 0.322 T 0.7 0.022 N 0.011 0.001 -1.019 0.239 T 0.000 0.001 T . . . -0.870 0.037 0.030 0.438 0.033 0.005 0.024 N c -2.152 -2.209 0.956 0.282 0.554 0.246 0 -10.9 0.002 -1.889 0.017 -1.524 0.010 0.000 0.063 0.622 0.293 9.709 0.392 SEA domain . . 0.1155 0.1106 0.0615 0.1121 0.0006 0.1526 0.1429 0.1283 0.1057 0.1240 0.1086 0.0707 0.0993 0.0012 0.1646 0.1384 0.1524 het 1795.62 125 4 69337325 . C G 1795.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.892;DP=125;Dels=0.00;FS=0.745;HRun=0;HaplotypeScore=0.7887;MQ=59.48;MQ0=0;MQRankSum=0.022;QD=14.36;ReadPosRankSum=1.267;VQSLOD=5.7489;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,64:125:99:1826,0,1606 4 69433714 69433714 C T exonic UGT2B17 synonymous SNV UGT2B17:NM_001077:exon1:c.G489A:p.E163E 0.28 0.33 0.48 0.048 0.35 0.25 0.4171 0.3297 0.6273 0.0112 0.4914 0.4217 0.4290 0.3413 0.39 0.34 0.42 0.21 0.46 rs34664906 COSM3760700 1(lung);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4285 0.3238 0.6077 0.4240 0.0101 0.4961 0.4197 0.4294 0.3425 0.4106 0.3119 0.5413 0.4593 0.0208 0.5133 0.4501 0.4661 hom 6136.25 207 4 69433714 . C T 6136.25 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=56.79;MQ0=0;QD=29.64;VQSLOD=6.1691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6135,481,0 4 69512847 69512847 T G exonic UGT2B15 nonsynonymous SNV UGT2B15:NM_001076:exon6:c.A1568C:p.K523T 0.37 0.13 0.5 0.19 0.64 0.51 0.5459 0.1971 0.5544 0.1706 0.6294 0.6444 0.5331 0.5246 0.49 0.22 0.63 0.34 . rs4148269 COSM5037350 1(oesophagus) . . . . . . . . . . . 0.996 0.019 T 0.0 0.026 B 0.0 0.013 B 0.420 0.129 N 1 0.090 P 0.045 0.081 N 0.16 0.606 T 1.84 0.005 N 0.059 0.043 -0.927 0.446 T 0.000 0.000 T . . . -1.206 0.025 0.006 0.154 0.004 0.025 0.068 N c -1.429 -1.467 0.000 0.012 0.487 0.133 0 -0.317 0.120 -1.611 0.021 -3.223 0.001 0.000 0.063 0.000 0.016 5.494 0.160 . . . 0.5510 0.1878 0.5551 0.6064 0.1729 0.6274 0.6450 0.5698 0.5225 0.4921 0.2094 0.5383 0.5993 0.1761 0.6368 0.6447 0.6079 hom 7232.62 224 4 69512847 . T G 7232.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.608;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9629;MQ=59.20;MQ0=0;MQRankSum=1.701;QD=32.29;ReadPosRankSum=-0.093;VQSLOD=4.9114;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,223:224:99:7200,518,0 4 69795626 69795626 C T exonic UGT2A3 nonsynonymous SNV UGT2A3:NM_024743:exon6:c.G1489A:p.A497T 0.68 0.49 0.6 0.69 0.84 0.81 0.7662 0.5297 0.5241 0.6792 0.7312 0.8469 0.7709 0.8162 0.75 0.55 0.86 0.58 . rs13128286 COSM5426239 2(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 0.148 0.248 T 0.63 0.383 P 0.544 0.472 P 0.086 0.024 N 1.000 0.212 P 1.47 0.371 L 0.12 0.611 T -2.17 0.490 N 0.092 0.091 -0.914 0.464 T 0.000 0.000 T . . . 3.374 0.464 22.9 0.991 0.520 0.039 0.092 N c -0.429 -0.633 0.000 0.050 0.487 0.133 0 2.22 0.270 0.277 0.184 0.588 0.286 0.000 0.063 0.004 0.083 10.054 0.412 . ENSG00000171234.9|ENSG00000135226.12|ENSG00000171234.9 Cells_Transformed_fibroblasts|Liver|Lung 0.7606 0.5225 0.5452 0.8462 0.6736 0.7314 0.8537 0.7892 0.8151 0.7309 0.5351 0.5885 0.8311 0.6605 0.7373 0.8525 0.7882 het 1522.04 134 4 69795626 . C T 1522.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7593;MQ=59.47;MQ0=0;MQRankSum=1.065;QD=11.36;ReadPosRankSum=-0.968;VQSLOD=4.6912;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,60:134:99:1552,0,1680 4 69964271 69964271 A G exonic UGT2B7 synonymous SNV UGT2B7:NM_001074:exon2:c.A735G:p.T245T,UGT2B7:NM_001330719:exon2:c.A735G:p.T245T 0.15 0.15 0.32 0.044 0.16 0.12 0.1666 0.1514 0.4128 0.0468 0.2514 0.1450 0.1641 0.1200 0.14 0.14 0.14 0.14 0.2 rs28365062 COSM4415408 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1724 0.1487 0.3841 0.1472 0.0444 0.2481 0.1363 0.1736 0.1191 0.1551 0.1527 0.3431 0.1644 0.0496 0.2376 0.1366 0.1816 het 1244.62 111 4 69964271 . A G 1244.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.233;DP=111;Dels=0.00;FS=8.423;HRun=0;HaplotypeScore=3.4091;MQ=57.33;MQ0=0;MQRankSum=1.285;QD=11.21;ReadPosRankSum=-2.152;VQSLOD=2.4341;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,48:111:99:1275,0,1510 4 69964337 69964337 A T exonic UGT2B7 synonymous SNV UGT2B7:NM_001074:exon2:c.A801T:p.P267P,UGT2B7:NM_001330719:exon2:c.A801T:p.P267P,UGT2B7:NM_001349568:exon3:c.A54T:p.P18P 0.67 0.77 0.68 0.73 0.51 0.6 0.5597 0.7109 0.7281 0.7069 0.5817 0.4844 0.5474 0.5655 0.16 0.26 0.11 . 0.52 rs7438284 COSM1131074 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5644 0.7160 0.7222 0.5098 0.7041 0.5834 0.4751 0.5494 0.5701 0.5618 0.7056 0.6938 0.5633 0.6953 0.5602 0.4608 0.5021 het 2846.38 187 4 69964337 . A T 2846.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.731;DP=187;Dels=0.00;FS=15.354;HRun=1;HaplotypeScore=2.6786;MQ=57.99;MQ0=1;MQRankSum=-0.029;QD=15.22;ReadPosRankSum=0.750;VQSLOD=2.2963;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,105:187:99:2876,0,2009 4 69964338 69964338 T C exonic UGT2B7 nonsynonymous SNV UGT2B7:NM_001074:exon2:c.T802C:p.Y268H,UGT2B7:NM_001330719:exon2:c.T802C:p.Y268H,UGT2B7:NM_001349568:exon3:c.T55C:p.Y19H 0.67 0.77 0.68 0.73 0.51 0.6 0.5597 0.7109 0.7284 0.7071 0.5817 0.4844 0.5474 0.5655 0.18 0.28 0.13 . 0.52 rs7439366 COSM4005793 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . 0.564 0.090 T 0.0 0.026 B 0.001 0.040 B 0.002 0.382 N 1.000 0.200 P . . . 0.28 0.591 T 3.26 0.002 N 0.044 0.024 -0.919 0.457 T 0.000 0.000 T . . . 0.182 0.111 4.484 0.677 0.082 0.010 0.036 N c -0.976 -1.040 1.000 0.747 0.554 0.246 0 1.83 0.242 2.008 0.403 -0.135 0.110 0.032 0.204 0.001 0.043 7.708 0.277 . ENSG00000171234.9 Skin_Sun_Exposed_Lower_leg 0.5644 0.7160 0.7223 0.5097 0.7040 0.5835 0.4751 0.5496 0.5701 0.5614 0.7053 0.6938 0.5633 0.6941 0.5602 0.4603 0.5021 het 2755.24 188 4 69964338 . T C 2755.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.559;DP=188;Dels=0.00;FS=12.248;HRun=0;HaplotypeScore=2.6786;MQ=58.00;MQ0=1;MQRankSum=-0.510;QD=14.66;ReadPosRankSum=1.132;VQSLOD=2.8499;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,104:188:99:2785,0,2059 4 70146230 70146230 G A exonic UGT2B28 synonymous SNV UGT2B28:NM_001207004:exon1:c.G12A:p.K4K,UGT2B28:NM_053039:exon1:c.G12A:p.K4K 0.64 0.59 0.67 0.6 0.77 0.61 0.7421 0.6314 0.7252 0.5983 0.8071 0.7802 0.7635 0.7122 0.74 0.66 0.78 0.5 0.73 rs13139691 COSM1430686 1(lung);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7390 0.6281 0.7168 0.7415 0.5930 0.7973 0.7824 0.7451 0.6949 0.7443 0.6464 0.7211 0.7071 0.6069 0.8064 0.7935 0.8036 hom 4201.25 144 4 70146230 . G A 4201.25 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=49.31;MQ0=3;QD=29.18;VQSLOD=7.0816;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4201,331,0 4 70146704 70146704 G A exonic UGT2B28 synonymous SNV UGT2B28:NM_001207004:exon1:c.G486A:p.A162A,UGT2B28:NM_053039:exon1:c.G486A:p.A162A 0.37 0.23 0.45 0.38 0.48 0.36 0.4828 0.2946 0.5670 0.3765 0.4886 0.5166 0.4653 0.4544 0.45 0.32 0.51 0.3 0.44 rs7689398 COSM4417015 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4853 0.2945 0.5499 0.3916 0.3776 0.4811 0.5263 0.4828 0.4495 0.4644 0.3042 0.4987 0.3723 0.3822 0.5124 0.5409 0.5345 hom 1748.80 57 4 70146704 . G A 1748.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.611;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9138;MQ=59.01;MQ0=0;MQRankSum=-1.611;QD=30.68;ReadPosRankSum=-0.638;VQSLOD=7.8821;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,56:57:99:1782,115,0 4 70160277 70160277 T G exonic UGT2B28 nonsynonymous SNV UGT2B28:NM_053039:exon6:c.T1340G:p.I447R 0.38 0.27 0.45 0.38 0.48 0.36 0.4862 0.3217 0.5707 0.3824 0.4886 0.5167 0.4675 0.4509 0.45 0.34 0.5 0.28 0.43 rs6843900 COSM149685 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(kidney);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.042 0.239 N 0.984 0.588 P -2.655 0.000 N 0.22 0.599 T 4.89 0.000 N 0.081 0.074 -0.921 0.454 T 0.000 0.000 T . . . -1.226 0.024 0.006 0.227 0.009 0.002 0.011 N c -1.736 -1.668 0.000 0.012 0.487 0.133 0 2.17 0.266 0.695 0.250 -1.498 0.010 0.000 0.063 0.110 0.193 7.825 0.283 . ENSG00000171234.9|ENSG00000171234.9|ENSG00000171234.9|ENSG00000213759.4 Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4715 0.3153 0.5196 0.3413 0.3738 0.4708 0.5170 0.4596 0.4262 0.4698 0.3382 0.4987 0.3486 0.3771 0.5117 0.5362 0.5328 hom 1606.92 59 4 70160277 . T G 1606.92 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.12;MQ0=1;QD=27.24;VQSLOD=3.7408;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1640,135,0 4 70160309 70160309 C G exonic UGT2B28 nonsynonymous SNV UGT2B28:NM_053039:exon6:c.C1372G:p.H458D 0.38 0.27 0.45 0.38 0.48 0.36 0.4917 0.3311 0.5775 0.3852 0.4951 0.5223 0.4752 0.4579 0.46 0.35 0.51 0.29 0.43 rs6828191 COSM3747595 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.810 P -3.975 0.000 N 1.31 0.354 T 6.22 0.000 N 0.051 0.032 -0.903 0.477 T 0.000 0.000 T . . . -0.298 0.069 0.671 0.452 0.035 0.012 0.042 N c -1.574 -1.320 0.000 0.046 0.487 0.133 0 1.85 0.243 4.560 0.603 -0.049 0.123 1.000 0.715 0.687 0.306 7.946 0.290 . ENSG00000171234.9|ENSG00000171234.9|ENSG00000171234.9|ENSG00000213759.4 Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4913 0.3280 0.5569 0.3824 0.3827 0.4859 0.5303 0.4859 0.4559 0.4711 0.3377 0.4961 0.3507 0.3769 0.5149 0.5380 0.5331 hom 2377.28 80 4 70160309 . C G 2377.28 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=45.09;MQ0=1;QD=29.72;VQSLOD=3.3558;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2410,196,0 4 70355211 70355211 T C exonic UGT2B4 synonymous SNV UGT2B4:NM_001297615:exon3:c.A948G:p.T316T,UGT2B4:NM_021139:exon3:c.A948G:p.T316T,UGT2B4:NM_001297616:exon4:c.A540G:p.T180T 1. 1. 1. 1. 1. 1. 0.9999 0.9999 1 1 1 0.9999 1 0.9998 . . . 1. 1. rs1845555 COSM4594663 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9999 1 1 1 1 0.9999 0.9998 0.9999 1 1 1 1 1 1 1 1 hom 6257.31 210 4 70355211 . T C 6257.31 Mask AC=2;AF=1.00;AN=2;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9562;MQ=59.27;MQ0=0;QD=29.80;VQSLOD=8.3023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:6256,502,0 4 70460328 70460328 C T exonic UGT2A1;UGT2A2 nonsynonymous SNV UGT2A2:NM_001301233:exon4:c.G1066A:p.V356I,UGT2A1:NM_001301239:exon4:c.G1039A:p.V347I,UGT2A2:NM_001105677:exon5:c.G1198A:p.V400I,UGT2A1:NM_001252274:exon6:c.G1669A:p.V557I,UGT2A1:NM_001252275:exon6:c.G1171A:p.V391I,UGT2A1:NM_006798:exon6:c.G1171A:p.V391I 0.12 0.13 0.15 0.029 0.17 0.12 0.1424 0.1109 0.1635 0.0244 0.1325 0.1595 0.1156 0.1457 0.15 0.1 0.18 0.087 0.16 rs4148304 COSM1131073;COSM1131072 1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.021 0.172 B 0.014 0.166 B 0.188 0.169 N . . . -0.165 0.043 N 0.1 0.614 T 0.51 0.031 N 0.027 0.011 -1.062 0.113 T 0.000 0.000 T . . . -0.550 0.053 0.165 0.793 0.122 0.017 0.054 N c -1.518 -1.424 0.048 0.148 0.487 0.133 0 -2.67 0.057 0.204 0.170 -0.325 0.076 0.018 0.193 0.982 0.498 7.051 0.241 . ENSG00000156096.8|ENSG00000248886.2|ENSG00000156096.8 Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung 0.1429 0.1099 0.1575 0.0447 0.0244 0.1350 0.1706 0.1370 0.1476 0.1430 0.1130 0.1699 0.0364 0.0290 0.1427 0.1731 0.1507 het 1351.74 124 4 70460328 . C T 1351.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.403;DP=124;Dels=0.00;FS=0.769;HRun=1;HaplotypeScore=7.3992;MQ=59.51;MQ0=0;MQRankSum=-0.787;QD=10.90;ReadPosRankSum=-0.191;VQSLOD=4.0729;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,50:124:99:1382,0,2110 4 70513139 70513139 C T exonic UGT2A1 nonsynonymous SNV UGT2A1:NM_001301239:exon1:c.G224A:p.R75K,UGT2A1:NM_001252274:exon2:c.G224A:p.R75K,UGT2A1:NM_001252275:exon2:c.G224A:p.R75K,UGT2A1:NM_006798:exon2:c.G224A:p.R75K 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 . . . 0.99 1. rs1347046 COSM4591248 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1665.65 54 4 70513139 . C T 1665.65 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;QD=30.85;VQSLOD=9.0550;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1699,129,0 4 70898907 70898907 C T exonic HTN3 synonymous SNV HTN3:NM_000200:exon5:c.C126T:p.G42G 0.11 0.015 0.16 0.2 0.11 0.11 0.1078 0.0296 0.1867 0.1941 0.0644 0.0947 0.1145 0.1265 0.075 0.034 0.097 0.12 0.11 rs1849937 COSM1131070 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1108 0.0279 0.1785 0.1305 0.1917 0.0614 0.0940 0.1156 0.1245 0.0736 0.0294 0.1790 0.1678 0.1878 0.0641 0.0803 0.0920 het 1052.18 97 4 70898907 . C T 1052.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.706;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;MQRankSum=0.112;QD=10.85;ReadPosRankSum=0.799;VQSLOD=6.0446;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1082,0,1328 4 71115053 71115053 T A exonic CSN3 synonymous SNV CSN3:NM_005212:exon4:c.T426A:p.P142P 0.072 0.086 0.079 0.031 0.12 0.036 0.1017 0.0977 0.0457 0.0541 0.1199 0.1300 0.0885 0.0471 0.12 0.093 0.13 0.11 0.15 rs3775740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0988 0.0975 0.0473 0.0612 0.0582 0.1207 0.1341 0.0968 0.0469 0.1186 0.0990 0.0549 0.0298 0.0582 0.1165 0.1421 0.1217 het 923.14 82 4 71115053 . T A 923.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.773;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0509;MQ=59.49;MQ0=0;MQRankSum=0.652;QD=11.26;ReadPosRankSum=-1.556;VQSLOD=4.4327;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,37:82:99:953,0,1116 4 71115152 71115152 T C exonic CSN3 synonymous SNV CSN3:NM_005212:exon4:c.T525C:p.V175V 0.31 0.19 0.4 0.32 0.39 0.34 0.3638 0.2289 0.3274 0.3164 0.3790 0.3986 0.3657 0.3510 0.34 0.23 0.39 0.34 0.33 rs3775738 COSM1131069 2(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3640 0.2214 0.3349 0.3624 0.3151 0.3790 0.3998 0.3617 0.3550 0.3521 0.2267 0.3313 0.3576 0.3184 0.3809 0.4208 0.3870 het 898.90 79 4 71115152 . T C 898.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.419;DP=79;Dels=0.00;FS=4.580;HRun=0;HaplotypeScore=3.4082;MQ=58.08;MQ0=0;MQRankSum=-0.655;QD=11.38;ReadPosRankSum=-1.196;VQSLOD=4.6414;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,36:79:99:929,0,1131 4 71201388 71201388 C T exonic CABS1 nonsynonymous SNV CABS1:NM_033122:exon1:c.C632T:p.T211I 0.92 0.78 0.96 1. 0.96 0.98 0.9463 0.7994 0.9747 1 0.9680 0.9486 0.9581 0.9722 0.9 0.81 0.95 0.89 0.95 rs1351419 . . . . . . . . . . . . . 0.978 0.020 T 0.0 0.026 B 0.0 0.013 B 0.266 0.152 N 1 0.090 P -0.345 0.033 N 2.01 0.213 T 0.83 0.018 N 0.042 0.022 -1.005 0.285 T 0.000 0.000 T . . . -0.457 0.058 0.280 0.050 0.000 0.003 0.015 N c -1.369 -1.329 0.000 0.012 0.487 0.133 0 1.19 0.200 -0.277 0.085 -0.215 0.099 0.000 0.063 0.050 0.164 7.945 0.290 . ENSG00000109208.4 Thyroid 0.9515 0.7943 0.9728 0.9748 1 0.9648 0.9480 0.9606 0.9730 0.9103 0.7999 0.9689 0.9669 0.9994 0.9657 0.9453 0.9490 hom 1382.39 44 4 71201388 . C T 1382.39 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;QD=31.42;VQSLOD=8.8445;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1415,111,0 4 71232388 71232388 G A exonic SMR3A nonsynonymous SNV SMR3A:NM_012390:exon3:c.G82A:p.G28R 0.3 0.12 0.26 0.42 0.27 0.47 0.2938 0.1274 0.2375 0.3821 0.2365 0.2884 0.2778 0.4461 0.23 0.14 0.28 0.2 0.37 rs10031844 COSM3760716 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.626 0.052 T 0.001 0.067 B 0.003 0.080 B . . . 1 0.090 P 0.295 0.102 N 1.57 0.293 T -2.69 0.574 D 0.044 0.026 -0.913 0.465 T 0.000 0.000 T . . . -0.742 0.043 0.058 0.532 0.048 0.022 0.064 N c -1.536 -1.628 0.001 0.076 0.487 0.133 0 -5.14 0.026 -0.806 0.046 -0.538 0.048 0.000 0.063 0.008 0.104 7.339 0.256 . ENSG00000109208.4 Thyroid 0.2875 0.1274 0.2352 0.2314 0.3881 0.2341 0.2872 0.2712 0.4280 0.2350 0.1267 0.2344 0.2417 0.4036 0.2246 0.2801 0.2798 het 968.93 107 4 71232388 . G A 968.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.203;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8656;MQ=59.04;MQ0=0;MQRankSum=1.181;QD=9.06;ReadPosRankSum=-2.283;VQSLOD=4.7620;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,42:107:99:999,0,1852 4 71232430 71232430 T C exonic SMR3A nonsynonymous SNV SMR3A:NM_012390:exon3:c.T124C:p.C42R 0.95 0.89 0.96 1. 0.96 0.99 0.9645 0.9040 0.9698 1 0.9841 0.9615 0.9581 0.9855 0.94 0.91 0.95 0.89 0.96 rs10024123 . . . . . . . . . . . . . 0.586 0.059 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 1.67 0.273 T 0.19 0.050 N 0.017 0.003 -0.973 0.367 T 0.000 0.000 T . . . -0.755 0.042 0.054 0.490 0.041 0.001 0.005 N c -1.633 -1.637 0.000 0.012 0.487 0.133 0 0.653 0.169 -0.300 0.082 -0.633 0.042 0.000 0.063 0.000 0.016 2.636 0.046 . . . 0.9656 0.9032 0.9691 0.9598 0.9998 0.9813 0.9599 0.9602 0.9855 0.9509 0.9060 0.9702 0.9536 1 0.9843 0.9613 0.9756 hom 4819.48 159 4 71232430 . T C 4819.48 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1838;MQ=57.67;MQ0=0;QD=30.31;VQSLOD=6.0531;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4819,391,0 4 71232701 71232701 C T exonic SMR3A nonsynonymous SNV SMR3A:NM_012390:exon3:c.C395T:p.P132L 0.66 0.77 0.7 0.59 0.69 0.52 0.6749 0.7769 0.7330 0.6247 0.7490 0.6757 0.6898 0.5618 0.7 0.77 0.67 0.7 0.59 rs6853742 COSM1131068 1(prostate);4(large_intestine) . . . . . . . . . . . 0.988 0.020 T 0.033 0.190 B 0.012 0.149 B . . . 1 0.090 P 0 0.065 N 1.63 0.280 T -2.72 0.579 D 0.053 0.037 -0.959 0.395 T 0.000 0.000 T . . . 0.559 0.147 7.869 0.352 0.022 0.044 0.099 N c -1.383 -1.368 0.000 0.012 0.487 0.133 0 1.6 0.226 0.136 0.157 -0.029 0.127 0.001 0.137 0.000 0.016 5.765 0.174 . . . 0.6796 0.7757 0.7340 0.7296 0.6183 0.7489 0.6738 0.6915 0.5596 0.7164 0.7796 0.7386 0.7119 0.6044 0.7605 0.6813 0.6959 het 852.08 74 4 71232701 . C T 852.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.304;DP=74;Dels=0.00;FS=2.267;HRun=1;HaplotypeScore=3.3601;MQ=59.41;MQ0=0;MQRankSum=-0.109;QD=11.51;ReadPosRankSum=-1.675;VQSLOD=5.1091;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,33:74:99:882,0,1146 4 71346701 71346701 C G exonic MUC7 nonsynonymous SNV MUC7:NM_152291:exon3:c.C240G:p.N80K,MUC7:NM_001145006:exon4:c.C240G:p.N80K,MUC7:NM_001145007:exon4:c.C240G:p.N80K 0.31 0.3 0.2 0.41 0.22 0.4 0.2726 0.2922 0.1533 0.3666 0.2970 0.2505 0.2411 0.3757 0.26 0.3 0.24 0.29 0.31 rs6826961 COSM4003128 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.511 0.093 T 0.006 0.126 B 0.005 0.104 B . . . 1 0.090 P 0.205 0.094 N 0.67 0.524 T -0.39 0.299 N 0.011 0.001 -0.949 0.412 T 0.000 0.000 T . . . -1.923 0.009 0.001 0.136 0.003 0.009 0.034 N c -1.699 -1.799 0.000 0.029 0.487 0.133 0 -3.1 0.050 -2.884 0.008 -1.881 0.006 0.000 0.063 0.000 0.016 0.098 0.000 . . . 0.2653 0.2992 0.1526 0.2044 0.3669 0.3017 0.2484 0.2415 0.3731 0.2773 0.2962 0.1639 0.2152 0.3951 0.2961 0.2564 0.2800 het 984.27 88 4 71346701 . C G 984.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.168;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7128;MQ=59.48;MQ0=0;MQRankSum=0.504;QD=11.18;ReadPosRankSum=-2.453;VQSLOD=5.4021;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,39:88:99:1014,0,1365 4 71468985 71468985 A G exonic AMBN synonymous SNV AMBN:NM_016519:exon10:c.A657G:p.Q219Q 0.076 0.036 0.12 0.003 0.19 0.051 0.1565 0.0576 0.0778 0.0078 0.1987 0.2229 0.1272 0.0679 0.17 0.067 0.22 0.076 0.16 rs35266919 COSM3760720 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1529 0.0553 0.0783 0.1275 0.0085 0.1953 0.2275 0.1639 0.0689 0.1683 0.0623 0.0931 0.1258 0.0074 0.1951 0.2450 0.1894 het 627.38 47 4 71468985 . A G 627.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.462;DP=47;Dels=0.00;FS=4.273;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.120;QD=13.35;ReadPosRankSum=-0.317;VQSLOD=4.9831;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,29:47:99:657,0,426 4 72425863 72425863 C T exonic SLC4A4 synonymous SNV SLC4A4:NM_003759:exon20:c.C2859T:p.H953H,SLC4A4:NM_001098484:exon23:c.C2991T:p.H997H,SLC4A4:NM_001134742:exon23:c.C2991T:p.H997H 0.78 0.61 0.86 0.75 0.96 0.8 0.8891 0.6506 0.8655 0.7562 0.9605 0.9547 0.8855 0.8317 0.86 0.66 0.96 0.78 0.89 rs1453458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8933 0.6456 0.8711 0.9042 0.7675 0.9545 0.9564 0.9084 0.8329 0.8552 0.6541 0.8648 0.8940 0.7510 0.9573 0.9540 0.9143 hom 5014.48 165 4 72425863 . C T 5014.48 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9509;MQ=57.87;MQ0=0;QD=30.39;VQSLOD=7.3607;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:5014,394,0 4 72618296 72618296 T C exonic GC nonsynonymous SNV GC:NM_000583:exon11:c.A1334G:p.H445R,GC:NM_001204306:exon12:c.A1334G:p.H445R,GC:NM_001204307:exon12:c.A1391G:p.H464R 0.99 0.98 1. 1. 1. 1. 0.9980 0.9780 0.9995 1 1 1.0000 1 0.9993 0.99 0.98 1. 0.89 1. rs9016 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.369 N 1 0.090 P . . . 2.66 0.126 T 1.18 0.011 N 0.015 0.005 -0.965 0.383 T 0.000 0.000 T . . . -2.015 0.008 0.001 0.116 0.002 0.002 0.012 N c -1.283 -1.300 0.329 0.195 0.601 0.348 0 0.982 0.188 -2.130 0.014 -0.351 0.070 0.000 0.063 0.007 0.100 2.852 0.052 Serum albumin-like|Vitamin D binding protein\x2c domain III . . 0.9985 0.9782 0.9993 1 0.9999 1 1.0000 0.9996 0.9994 0.9940 0.9788 1 1 1 1 1 0.9980 hom 2911.71 98 4 72618296 . T C 2911.71 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.29;MQ0=0;QD=29.71;VQSLOD=8.3718;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:2945,244,0 4 72618323 72618323 G T exonic GC nonsynonymous SNV GC:NM_000583:exon11:c.C1307A:p.T436K,GC:NM_001204306:exon12:c.C1307A:p.T436K,GC:NM_001204307:exon12:c.C1364A:p.T455K 0.21 0.067 0.21 0.26 0.25 0.3 0.2528 0.0983 0.2085 0.2693 0.2014 0.2760 0.2489 0.2990 0.23 0.11 0.29 0.2 0.33 rs4588 COSM4003132;COSM4003131 3(haematopoietic_and_lymphoid_tissue) Benign GC1/GC2_POLYMORPHISM RCV000017356.3 . . . . . . . . 0.481 0.102 T 0.009 0.139 B 0.011 0.145 B 0.226 0.035 N 1 0.090 P . . . 2.33 0.165 T -0.12 0.088 N 0.067 0.054 -0.939 0.428 T 0.000 0.000 T . . . -0.107 0.084 1.682 0.187 0.006 0.014 0.047 N c -1.245 -1.312 0.619 0.219 0.601 0.348 0 -2.73 0.056 -0.459 0.068 0.089 0.194 0.000 0.063 0.000 0.016 5.763 0.174 Serum albumin-like|Vitamin D binding protein\x2c domain III . . 0.2535 0.0966 0.2076 0.2871 0.2732 0.1998 0.2814 0.2510 0.2976 0.2245 0.1019 0.2542 0.3046 0.2611 0.2107 0.2894 0.2628 het 1234.98 117 4 72618323 . G T 1234.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.300;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9971;MQ=59.41;MQ0=0;MQRankSum=-0.008;QD=10.56;ReadPosRankSum=0.036;VQSLOD=6.7364;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,52:117:99:1265,0,1677 4 72618334 72618334 A C exonic GC nonsynonymous SNV GC:NM_000583:exon11:c.T1296G:p.D432E,GC:NM_001204306:exon12:c.T1296G:p.D432E,GC:NM_001204307:exon12:c.T1353G:p.D451E 0.38 0.094 0.54 0.3 0.58 0.54 0.5159 0.1606 0.4987 0.2920 0.6742 0.5783 0.5374 0.5525 0.43 0.17 0.56 0.3 0.5 rs7041 COSM149688;COSM4381394 1(stomach);1(large_intestine) Benign GC1/GC2_POLYMORPHISM RCV000017357.2 . . Serum vitamin D-binding protein levels . . 24740207 rs7041 1E-246 0.357 0.134 T 0.0 0.026 B 0.001 0.040 B 0.231 0.159 N 1 0.090 P 1.585 0.400 L 2.22 0.182 T 0.76 0.020 N 0.034 0.016 -0.939 0.429 T 0.000 0.000 T . . . -1.625 0.014 0.002 0.460 0.036 0.010 0.038 N c -1.760 -1.878 1.000 0.747 0.487 0.133 0 -10.0 0.004 -3.886 0.004 -0.656 0.041 0.000 0.063 0.000 0.016 6.102 0.191 Serum albumin-like|Vitamin D binding protein\x2c domain III . . 0.5234 0.1516 0.5065 0.5985 0.2851 0.6730 0.5703 0.5586 0.5517 0.4534 0.1685 0.4928 0.5629 0.2945 0.6722 0.5746 0.55 het 1692.37 119 4 72618334 . A C 1692.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.695;DP=119;Dels=0.00;FS=1.515;HRun=1;HaplotypeScore=1.6643;MQ=59.61;MQ0=0;MQRankSum=-1.069;QD=14.22;ReadPosRankSum=0.413;VQSLOD=6.4472;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,64:119:99:1722,0,1333 4 73930552 73930552 G A exonic COX18 synonymous SNV COX18:NM_001300729:exon3:c.C672T:p.P224P,COX18:NM_001297732:exon4:c.C666T:p.P222P,COX18:NM_001297733:exon4:c.C210T:p.P70P,COX18:NM_173827:exon4:c.C663T:p.P221P 0.34 0.19 0.3 0.39 0.46 0.41 0.3959 0.2402 0.2561 0.3892 0.4068 0.4310 0.4290 0.4472 0.36 0.24 0.43 0.32 0.31 rs3762883 COSM4417352 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3917 0.2293 0.2639 0.3504 0.3837 0.4046 0.4377 0.4012 0.4519 0.3679 0.2352 0.2907 0.3667 0.3693 0.3981 0.4398 0.4031 het 1191.15 124 4 73930552 . G A 1191.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.378;DP=124;Dels=0.00;FS=0.681;HRun=0;HaplotypeScore=0.8321;MQ=59.55;MQ0=0;MQRankSum=0.363;QD=9.61;ReadPosRankSum=-0.046;VQSLOD=6.6892;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,49:124:99:1221,0,1656 4 73942678 73942678 C T exonic ANKRD17 synonymous SNV ANKRD17:NM_198889:exon32:c.G6978A:p.T2326T,ANKRD17:NM_001286771:exon33:c.G7392A:p.T2464T,ANKRD17:NM_015574:exon33:c.G7728A:p.T2576T,ANKRD17:NM_032217:exon33:c.G7731A:p.T2577T 0.18 0.014 0.22 0.29 0.17 0.26 0.1709 0.0342 0.2476 0.2642 0.1008 0.1591 0.1553 0.2317 0.12 0.039 0.16 0.16 0.18 rs2306058 COSM4003133 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1745 0.0342 0.243 0.1721 0.2605 0.1043 0.1614 0.1771 0.2241 0.1181 0.0398 0.2363 0.1954 0.2677 0.0966 0.1430 0.1380 het 2394.31 201 4 73942678 . C T 2394.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.020;DP=201;Dels=0.00;FS=4.041;HRun=0;HaplotypeScore=0.9894;MQ=58.98;MQ0=0;MQRankSum=0.053;QD=11.91;ReadPosRankSum=0.732;VQSLOD=6.2759;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,92:201:99:2424,0,2660 4 73956736 73956736 G A exonic ANKRD17 synonymous SNV ANKRD17:NM_198889:exon28:c.C5856T:p.L1952L,ANKRD17:NM_001286771:exon29:c.C6270T:p.L2090L,ANKRD17:NM_015574:exon29:c.C6606T:p.L2202L,ANKRD17:NM_032217:exon29:c.C6609T:p.L2203L 0.35 0.24 0.3 0.38 0.45 0.41 0.3936 0.2771 0.2536 0.3894 0.4007 0.4229 0.4183 0.4449 0.37 0.28 0.42 0.32 0.3 rs6855349 COSM3760723 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3898 0.27 0.2623 0.3708 0.3840 0.3980 0.4283 0.4013 0.4497 0.3719 0.2700 0.2931 0.3841 0.3688 0.3908 0.4296 0.3969 het 2800 219 4 73956736 . G A 2800 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.677;DP=219;DS;Dels=0.00;FS=1.834;HRun=1;HaplotypeScore=4.6993;MQ=59.48;MQ0=0;MQRankSum=1.324;QD=12.79;ReadPosRankSum=0.901;VQSLOD=5.5518;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,99:219:99:2830,0,3635 4 73991006 73991006 T C exonic ANKRD17 synonymous SNV ANKRD17:NM_198889:exon16:c.A2505G:p.A835A,ANKRD17:NM_001286771:exon17:c.A2919G:p.A973A,ANKRD17:NM_015574:exon17:c.A3255G:p.A1085A,ANKRD17:NM_032217:exon17:c.A3258G:p.A1086A 1. 0.99 1. 1. 1. 1. 0.9988 0.9884 0.9984 1 1 1.0000 1 1 1. 0.99 1. 1. 1. rs6822576 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9890 0.9984 1 1 1 1.0000 0.9993 1 0.9968 0.9889 1 1 1 1 1 0.9990 hom 3291.40 117 4 73991006 . T C 3291.40 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=28.13;VQSLOD=8.1562;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3291,268,0 4 74285239 74285239 C T exonic ALB synonymous SNV ALB:NM_000477:exon13:c.C1668T:p.L556L 0.48 0.43 0.41 0.56 0.55 0.47 0.5354 0.4185 0.4032 0.5749 0.5633 0.5760 0.5397 0.5050 0.52 0.42 0.57 0.5 0.53 rs962004 COSM4768573 1(biliary_tract) Likely benign Hyperthyroxinemia\x2c_dysalbuminemic RCV000359248.1 MedGen C1863119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5277 0.4085 0.4082 0.4564 0.5707 0.5560 0.5802 0.5220 0.5061 0.5268 0.4163 0.4401 0.47 0.5680 0.5490 0.5874 0.5446 het 1131.94 85 4 74285239 . C T 1131.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.982;DP=85;Dels=0.00;FS=3.608;HRun=1;HaplotypeScore=2.8233;MQ=58.75;MQ0=0;MQRankSum=0.101;QD=13.32;ReadPosRankSum=1.422;VQSLOD=5.4185;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,40:85:99:1162,0,1195 4 74318330 74318330 A G exonic AFP synonymous SNV AFP:NM_001134:exon12:c.A1641G:p.T547T 0.98 0.91 1. 1. 1. 1. 0.9938 0.9321 0.9977 0.9999 1 0.9999 0.9956 0.9993 0.98 0.94 1. 0.94 1. rs4235117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9949 0.9294 0.9965 1 0.9999 1 0.9999 0.9976 0.9995 0.9802 0.9313 0.9964 1 1 1 0.9997 0.9939 hom 1464.25 47 4 74318330 . A G 1464.25 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.01;MQ0=0;QD=31.15;VQSLOD=9.5208;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1497,117,0 4 74735244 74735244 A G exonic CXCL1 synonymous SNV CXCL1:NM_001511:exon1:c.A57G:p.A19A 0.38 0.55 0.43 0.39 0.18 0.31 0.3639 0.5640 0.5437 0.4924 0.3394 0.2955 0.3829 0.3255 0.26 0.4 0.19 0.18 . rs2071425 COSM3749883 2(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2884 0.4936 0.4464 0.2861 0.4056 0.2276 0.2056 0.2765 0.2899 0.3064 0.4955 0.4111 0.2980 0.3809 0.2299 0.2033 0.2588 het 416.91 27 4 74735244 . A G 416.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.058;DP=27;Dels=0.00;FS=2.706;HRun=0;HaplotypeScore=0.0000;MQ=58.27;MQ0=0;MQRankSum=0.437;QD=15.44;ReadPosRankSum=-1.136;VQSLOD=4.3179;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,19:27:99:447,0,219 4 74863997 74863997 T C exonic CXCL5 synonymous SNV CXCL5:NM_002994:exon2:c.A168G:p.Q56Q 0.81 0.53 0.88 0.96 0.89 0.92 0.8694 0.5936 0.8934 0.9671 0.8884 0.8850 0.8888 0.9030 0.79 0.6 0.89 0.71 0.89 rs425535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8754 0.5897 0.8946 0.8606 0.9679 0.8836 0.8862 0.8840 0.9027 0.8100 0.5982 0.9010 0.9040 0.9660 0.8777 0.8890 0.8765 hom 4368.50 133 4 74863997 . T C 4368.50 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6988;MQ=58.88;MQ0=0;QD=32.85;VQSLOD=9.3788;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:133:99:4368,334,0 4 75248434 75248434 A G exonic EREG synonymous SNV EREG:NM_001432:exon4:c.A351G:p.E117E 0.77 0.79 0.83 0.7 0.81 0.72 0.7927 0.7768 0.8707 0.6960 0.8156 0.8024 0.8095 0.7495 0.78 0.75 0.79 0.77 0.77 rs2367707 COSM5010191 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7949 0.7749 0.8710 0.8069 0.6879 0.8150 0.7983 0.7991 0.7504 0.7915 0.7749 0.8747 0.8377 0.6850 0.8136 0.7999 0.8241 het 2149.05 156 4 75248434 . A G 2149.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.672;DP=156;Dels=0.00;FS=0.596;HRun=0;HaplotypeScore=2.8464;MQ=59.05;MQ0=0;MQRankSum=-0.272;QD=13.78;ReadPosRankSum=0.311;VQSLOD=6.5208;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,82:156:99:2179,0,1952 4 75675841 75675841 A T exonic BTC nonsynonymous SNV BTC:NM_001729:exon4:c.T370A:p.L124M 0.2 0.24 0.2 0.041 0.26 0.25 0.2237 0.2630 0.1335 0.0417 0.1819 0.2542 0.2654 0.2488 0.27 0.27 0.27 0.14 0.2 rs11938093 COSM3760735 1(large_intestine) . . . . . . . . . . . 0.046 0.405 D 0.999 0.764 D 0.982 0.739 D 0.000 0.441 D 0.824 0.288 P 2.615 0.767 M 2.45 0.150 T -1.57 0.379 N 0.189 0.241 -1.009 0.273 T 0.000 0.000 T . . . 4.559 0.611 24.4 0.996 0.758 0.508 0.285 D c 0.210 0.185 0.000 0.058 0.487 0.133 0 2.94 0.330 -0.081 0.112 1.199 0.960 0.832 0.299 0.995 0.604 5.936 0.183 . . . 0.2221 0.2628 0.1432 0.3287 0.0422 0.1868 0.2559 0.2508 0.2520 0.2335 0.2698 0.1591 0.3576 0.0494 0.1903 0.2456 0.2090 het 2417.87 220 4 75675841 . A T 2417.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.410;DP=220;Dels=0.00;FS=8.541;HRun=0;HaplotypeScore=5.4559;MQ=59.24;MQ0=0;MQRankSum=1.273;QD=10.99;ReadPosRankSum=0.996;VQSLOD=3.7272;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,89:220:99:2448,0,3558 4 75938236 75938236 A G exonic PARM1 synonymous SNV PARM1:NM_015393:exon2:c.A645G:p.V215V 0.41 0.42 0.35 0.21 0.53 0.53 0.4586 0.4367 0.3201 0.2102 0.5321 0.4955 0.4422 0.5204 0.47 0.43 0.5 0.36 . rs1062293 COSM4003136;COSM4003137;COSM149693 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4575 0.4411 0.3426 0.3758 0.2155 0.5327 0.5051 0.4697 0.5232 0.4790 0.4326 0.3735 0.4133 0.2366 0.5424 0.5205 0.5389 het 1573.13 134 4 75938236 . A G 1573.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.792;DP=134;DS;Dels=0.00;FS=6.987;HRun=0;HaplotypeScore=0.9967;MQ=59.66;MQ0=0;MQRankSum=-0.528;QD=11.74;ReadPosRankSum=1.432;VQSLOD=4.8796;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,55:134:99:1603,0,2079 4 76720885 76720885 T C exonic USO1 unknown UNKNOWN 0.75 0.7 0.76 0.9 0.65 0.77 0.7160 0.6962 0.8095 0.9006 0.6738 0.6728 0.7327 0.7562 0.67 0.69 0.67 0.76 . rs13119659 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7168 0.6949 0.7912 0.7243 0.8970 0.6792 0.6656 0.7195 0.7552 0.6990 0.6971 0.7452 0.7053 0.8880 0.6789 0.6811 0.7096 hom 3626 124 4 76720885 . T C 3626 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.26;MQ0=0;QD=29.24;VQSLOD=7.9541;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3625,304,0 4 76722353 76722353 G A exonic USO1 unknown UNKNOWN 0.65 0.34 0.77 0.89 0.76 0.64 0.7183 0.3777 0.7361 0.9227 0.7495 0.7428 0.7410 0.6860 0.63 0.38 0.74 0.59 . rs324726 COSM3774151;COSM3774150 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7257 0.3649 0.7362 0.8165 0.9233 0.7467 0.7389 0.7596 0.6858 0.6531 0.3856 0.7124 0.8311 0.9346 0.7401 0.7468 0.7108 hom 1451.18 53 4 76722353 . G A 1451.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.602;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=57.49;MQ0=0;MQRankSum=-1.340;QD=27.38;ReadPosRankSum=-1.405;VQSLOD=6.2385;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,52:53:99:1484,111,0 4 76793228 76793228 A G exonic PPEF2 synonymous SNV PPEF2:NM_006239:exon13:c.T1599C:p.I533I 0.99 0.97 1. 1. 1. 1. 0.9975 0.9721 0.9991 1 1 1.0000 0.9989 0.9997 0.99 0.97 1. 0.99 1. rs1394916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9720 0.9988 1 1 1 1.0000 0.9989 0.9997 0.9918 0.9715 0.9976 1 1 1 0.9999 0.9969 hom 3968.30 140 4 76793228 . A G 3968.30 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.84;MQ0=0;QD=28.34;VQSLOD=7.9132;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:3967,316,0 4 76794345 76794345 T G exonic PPEF2 nonsynonymous SNV PPEF2:NM_006239:exon12:c.A1441C:p.M481L 1. 1. 1. 1. 1. 1. 0.9997 0.9969 0.9999 1 1 1.0000 1 1 1. 1. 1. 1. 0.98 rs6858658 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.460 N 1 0.090 P -2.52 0.001 N -1.65 0.826 D 1.78 0.005 N 0.061 0.045 -0.953 0.405 T 0.000 0.000 T . . . -0.649 0.047 0.095 0.311 0.017 0.112 0.163 N c -1.322 -1.074 0.851 0.250 0.487 0.133 0 3.63 0.406 3.126 0.499 0.073 0.181 1.000 0.715 0.310 0.239 6.916 0.234 Metallo-dependent phosphatase-like|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase . . 0.9998 0.9969 0.9999 1 1 1 1 0.9996 1 0.9989 0.9964 0.9988 1 1 1 0.9999 0.9990 hom 4605.37 135 4 76794345 . T G 4605.37 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=34.11;VQSLOD=9.8021;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4605,355,0 4 76805902 76805902 C T exonic PPEF2 synonymous SNV PPEF2:NM_006239:exon8:c.G591A:p.P197P 0.86 0.54 0.95 0.99 0.98 0.99 0.9494 0.5830 0.9689 0.9934 0.9918 0.9839 0.9534 0.9880 0.85 0.59 0.98 0.8 0.83 rs1976518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9558 0.5767 0.9654 0.9645 0.9938 0.9933 0.9851 0.9612 0.9870 0.8716 0.5767 0.9594 0.9404 0.9963 0.9951 0.9885 0.9561 hom 8206.19 250 4 76805902 . C T 8206.19 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5624;MQ=59.02;MQ0=0;QD=32.82;VQSLOD=7.7296;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8205,656,0 4 76809386 76809386 A G exonic PPEF2 synonymous SNV PPEF2:NM_006239:exon6:c.T513C:p.S171S 0.99 0.98 1. 1. 1. 1. 0.9985 0.9837 0.9997 1 1 1.0000 1 0.9998 1. 0.99 1. 0.98 0.93 rs7691755 COSM4159186 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9850 0.9996 1 1 1 1.0000 0.9989 0.9998 0.9964 0.9875 0.9988 1 1 1 0.9999 0.9990 hom 7817.68 250 4 76809386 . A G 7817.68 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4583;MQ=58.20;MQ0=0;QD=31.27;VQSLOD=6.9483;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7816,641,0 4 76836137 76836137 A G exonic NAAA nonsynonymous SNV NAAA:NM_014435:exon10:c.T1000C:p.F334L 0.74 0.97 0.7 0.54 0.71 0.71 0.7107 0.9354 0.6790 0.5287 0.7626 0.7048 0.6756 0.6993 0.77 0.93 0.7 0.74 0.67 rs6823734 COSM1567262 1(large_intestine) . . . . . . . . . . . 0.647 0.049 T 0.0 0.026 B 0.0 0.013 B 0.001 0.008 N 1 0.090 P -0.95 0.013 N 0.11 0.612 T 0.3 0.041 N 0.68 0.688 -0.937 0.431 T 0.000 0.000 T . . . -0.567 0.052 0.150 0.812 0.131 0.028 0.074 N c -1.989 -1.958 1.000 0.747 0.615 0.372 0 -7.99 0.010 -1.031 0.037 -0.575 0.046 0.000 0.063 0.147 0.204 5.437 0.157 . ENSG00000138744.10 Cells_Transformed_fibroblasts 0.7057 0.9395 0.6766 0.6825 0.5331 0.7683 0.7013 0.6878 0.6996 0.7668 0.9295 0.6746 0.6577 0.5261 0.7652 0.7082 0.7286 het 1233.52 99 4 76836137 . A G 1233.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.635;DP=99;Dels=0.00;FS=4.243;HRun=1;HaplotypeScore=4.4565;MQ=59.77;MQ0=0;MQRankSum=1.393;QD=12.46;ReadPosRankSum=-1.224;VQSLOD=4.7777;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,46:99:99:1264,0,1450 4 76878716 76878716 G C exonic SDAD1 nonsynonymous SNV SDAD1:NM_001288983:exon18:c.C1613G:p.S538C,SDAD1:NM_001288984:exon19:c.C1433G:p.S478C,SDAD1:NM_018115:exon19:c.C1724G:p.S575C 0.28 0.24 0.21 0.073 0.42 0.45 0.3410 0.2461 0.1386 0.0601 0.4415 0.3900 0.3491 0.4515 0.34 0.25 0.39 0.3 0.44 rs2242471 COSM3760741 1(large_intestine) . . . . . . . . . . . 0.047 0.403 D 0.941 0.509 P 0.612 0.493 P 0.000 0.559 D 0.776 0.294 P 2.085 0.579 M 1.89 0.863 T -1.67 0.399 N 0.063 0.051 -1.153 0.009 T 0.000 0.000 T . . . 5.632 0.767 26.6 0.991 0.510 0.933 0.575 D c 0.415 0.477 0.670 0.223 0.707 0.730 0 5.15 0.702 4.087 0.572 1.045 0.669 1.000 0.715 0.999 0.750 16.483 0.839 SDA1 domain ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000156219.12|ENSG00000138744.10|ENSG00000138744.10|ENSG00000156219.12|ENSG00000169248.8|ENSG00000156219.12|ENSG00000138750.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10|ENSG00000138744.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.3361 0.2407 0.1521 0.3568 0.0575 0.4404 0.3946 0.3251 0.4477 0.3372 0.2551 0.1890 0.3245 0.0543 0.4567 0.3932 0.3806 het 1845.69 151 4 76878716 . G C 1845.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DP=151;Dels=0.00;FS=1.272;HRun=0;HaplotypeScore=6.9724;MQ=59.48;MQ0=0;MQRankSum=-0.598;QD=12.22;ReadPosRankSum=0.121;VQSLOD=3.9382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,71:151:99:1876,0,2154 4 76881233 76881233 G T exonic SDAD1 nonsynonymous SNV SDAD1:NM_001288983:exon16:c.C1358A:p.A453D,SDAD1:NM_001288984:exon17:c.C1178A:p.A393D,SDAD1:NM_018115:exon17:c.C1469A:p.A490D 0.095 0.016 0.11 0.12 0.088 0.17 0.1048 0.0258 0.1096 0.1183 0.1178 0.0970 0.1222 0.1718 0.072 0.029 0.094 0.065 0.13 rs34627298 COSM3760742 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.608 0.055 T 0.001 0.067 B 0.001 0.040 B 0.064 0.220 N 1 0.090 P -0.31 0.036 N 2.86 0.105 T 0.32 0.060 N 0.098 0.100 -0.952 0.407 T 0.000 0.000 T . . . 1.065 0.196 11.03 0.870 0.164 0.087 0.144 N c -0.841 -0.747 0.000 0.058 0.563 0.310 0 0.987 0.188 0.214 0.172 1.045 0.669 0.011 0.184 0.960 0.441 3.140 0.060 Armadillo-type fold|SDA1 domain ENSG00000138744.10 Cells_Transformed_fibroblasts 0.1057 0.0228 0.1147 0.0478 0.1125 0.1154 0.0996 0.1138 0.1666 0.0788 0.0269 0.1244 0.0530 0.1045 0.1108 0.0941 0.1202 het 541.63 65 4 76881233 . G T 541.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.609;DP=65;Dels=0.00;FS=3.563;HRun=0;HaplotypeScore=0.9992;MQ=58.07;MQ0=0;MQRankSum=0.582;QD=8.33;ReadPosRankSum=-0.221;VQSLOD=4.6504;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,26:65:99:572,0,1082 4 76955914 76955914 T C exonic CXCL11 nonsynonymous SNV CXCL11:NM_001302123:exon4:c.A313G:p.S105G 0.69 0.73 0.75 0.94 0.51 0.53 0.6092 0.7098 0.8345 0.9456 0.4771 0.5433 0.5984 0.5230 0.59 0.71 0.54 0.67 0.18 rs6532111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6065 0.7158 0.8110 0.6172 0.9489 0.4784 0.5221 0.6068 0.5202 0.6051 0.6993 0.7548 0.6324 0.9542 0.4754 0.5385 0.5377 het 210.41 25 4 76955914 . T C 210.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.594;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=59.07;MQ0=0;MQRankSum=0.481;QD=8.42;ReadPosRankSum=-1.047;VQSLOD=6.4456;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,9:25:99:240,0,417 4 77053834 77053834 T C exonic NUP54 nonsynonymous SNV NUP54:NM_001278603:exon5:c.A605G:p.N202S,NUP54:NM_017426:exon6:c.A749G:p.N250S 0.14 0.22 0.22 0.028 0.17 0.068 0.1496 0.2092 0.2406 0.0229 0.1216 0.1582 0.1678 0.0898 0.17 0.2 0.16 0.17 0.2 rs61750814 COSM3760745 1(large_intestine) . . . . . . . . . . . 0.236 0.179 T 0.085 0.258 B 0.02 0.210 B 0.000 0.843 D 0.000 0.588 P 1.425 0.359 L . . . -1.19 0.303 N 0.027 0.041 -1.081 0.071 T 0.000 0.000 T . . . 1.149 0.205 11.48 0.979 0.361 0.958 0.661 D c 0.005 0.188 0.999 0.391 0.745 0.986 0 5.46 0.799 5.839 0.689 1.061 0.807 1.000 0.715 1.000 0.888 15.541 0.757 . ENSG00000138744.10 Nerve_Tibial 0.1533 0.2085 0.2403 0.1954 0.0235 0.1204 0.1581 0.1850 0.0913 0.1578 0.2107 0.2160 0.2252 0.0240 0.1132 0.1478 0.1503 het 939.77 66 4 77053834 . T C 939.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.326;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5880;MQ=60.00;MQ0=0;MQRankSum=-0.781;QD=14.24;ReadPosRankSum=0.230;VQSLOD=5.3802;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,33:66:99:970,0,942 4 77055474 77055474 A G exonic NUP54 synonymous SNV NUP54:NM_001278603:exon4:c.T420C:p.D140D,NUP54:NM_017426:exon5:c.T564C:p.D188D 0.16 0.057 0.13 0.35 0.13 0.13 0.1531 0.0731 0.1438 0.3477 0.1250 0.1555 0.1655 0.1089 0.12 0.07 0.15 0.17 0.15 rs11097244 COSM3760746 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1517 0.0703 0.1410 0.1735 0.3490 0.1256 0.1509 0.1591 0.1070 0.1381 0.0724 0.1444 0.2020 0.3561 0.1265 0.1540 0.1391 het 670.79 46 4 77055474 . A G 670.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.343;DP=46;Dels=0.00;FS=4.775;HRun=0;HaplotypeScore=0.9665;MQ=58.77;MQ0=0;MQRankSum=-0.011;QD=14.58;ReadPosRankSum=0.543;VQSLOD=5.4297;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,26:46:99:701,0,475 4 77057501 77057501 A G exonic NUP54 synonymous SNV NUP54:NM_001278603:exon3:c.T216C:p.T72T,NUP54:NM_017426:exon4:c.T360C:p.T120T 0.15 0.057 0.13 0.35 0.13 0.13 0.1516 0.0724 0.1424 0.3466 0.1249 0.1536 0.1641 0.1077 0.12 0.07 0.15 0.18 0.15 rs11558468 COSM3760747 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1519 0.0704 0.1409 0.1735 0.3495 0.1259 0.1511 0.1591 0.1070 0.1383 0.0724 0.1444 0.2020 0.3574 0.1271 0.1540 0.1395 het 951.82 85 4 77057501 . A G 951.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.610;DP=85;Dels=0.00;FS=0.823;HRun=1;HaplotypeScore=3.9691;MQ=59.73;MQ0=0;MQRankSum=-1.095;QD=11.20;ReadPosRankSum=-0.919;VQSLOD=4.6921;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,41:85:99:982,0,1157 4 77065318 77065318 - TGT exonic NUP54 nonframeshift insertion NUP54:NM_017426:exon3:c.278_279insACA:p.Q97_T98insQ 0.15 0.057 0.13 0.35 0.13 0.13 0.1516 0.0724 0.1422 0.3469 0.1249 0.1536 0.1641 0.1077 0.12 0.07 0.15 . . rs57577548 COSM5829967 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1517 0.0704 0.1407 0.1733 0.3494 0.1259 0.1509 0.1594 0.1069 0.1380 0.0723 0.1444 0.2020 0.3570 0.1266 0.1536 0.1401 het 6939.64 250 4 77065318 . C CTGT 6939.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.480;DP=250;DS;FS=7.095;HRun=0;HaplotypeScore=849.4540;MQ=58.53;MQ0=0;MQRankSum=2.367;QD=27.76;ReadPosRankSum=-0.387;set=variant2 GT:AD:DP:GQ:PL 0/1:120,124:250:99:6940,0,4434 4 77065580 77065580 T C exonic NUP54 synonymous SNV NUP54:NM_001278603:exon2:c.A114G:p.A38A,NUP54:NM_017426:exon2:c.A114G:p.A38A 0.15 0.057 0.13 0.35 0.13 0.13 0.1516 0.0725 0.1426 0.3468 0.1247 0.1536 0.1641 0.1076 0.12 0.07 0.15 0.17 0.14 rs11558469 COSM149697 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1514 0.0703 0.1395 0.1725 0.3477 0.1258 0.1510 0.1580 0.1060 0.1382 0.0725 0.1435 0.2020 0.3560 0.1265 0.1539 0.1398 het 744.79 81 4 77065580 . T C 744.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.491;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.651;QD=9.19;ReadPosRankSum=0.080;VQSLOD=9.7601;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,38:81:99:775,0,1005 4 77660162 77660162 G C exonic SHROOM3 nonsynonymous SNV SHROOM3:NM_020859:exon5:c.G836C:p.G279A 0.66 0.61 0.7 0.6 0.71 0.73 0.7160 0.6323 0.7062 0.5776 0.7039 0.7460 0.6876 0.7328 0.71 0.63 0.75 0.59 0.73 rs344140 COSM4997999 1(pancreas);1(oesophagus) Benign not_specified RCV000454736.1 MedGen CN169374 . . . . . . 0.697 0.042 T 0.002 0.090 B 0.003 0.080 B 0.982 0.081 N 1 0.090 P 1.115 0.288 L 1.02 0.407 T -0.81 0.223 N 0.011 0.001 -0.903 0.477 T 0.000 0.000 T . . . -2.231 0.005 0.001 0.102 0.001 0.381 0.257 N c -1.451 -1.384 1.000 0.409 0.707 0.730 0 -0.947 0.098 0.849 0.272 -0.919 0.025 0.115 0.229 0.001 0.043 18.386 0.904 . . . 0.7186 0.6257 0.7097 0.7514 0.5878 0.7001 0.7506 0.7199 0.7340 0.6924 0.6254 0.7458 0.7285 0.5903 0.7112 0.7347 0.6867 het 1281.33 95 4 77660162 . G C 1281.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.028;DP=95;Dels=0.00;FS=2.740;HRun=2;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-1.597;QD=13.49;ReadPosRankSum=0.560;VQSLOD=5.6320;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,45:95:99:1311,0,1478 4 77660299 77660299 T G exonic SHROOM3 nonsynonymous SNV SHROOM3:NM_020859:exon5:c.T973G:p.S325A 0.033 0.0045 0.055 0.001 0.072 0.05 0.0631 0.0136 0.0413 0.0008 0.0599 0.0882 0.0883 0.0404 0.067 0.017 0.093 . 0.074 rs61999292 . . Benign not_specified RCV000455435.1 MedGen CN169374 . . . . . . 0.048 0.400 D 0.952 0.522 P 0.444 0.441 B 0.000 0.449 D 0.765 0.295 N 2.685 0.788 M 0.91 0.449 T -1.23 0.312 N 0.063 0.048 -1.111 0.030 T 0.006 0.019 T . . . 1.087 0.198 11.15 0.986 0.436 0.945 0.610 D c 0.253 0.266 1.000 0.747 0.707 0.730 0 3.75 0.421 2.682 0.464 0.144 0.231 1.000 0.715 0.998 0.697 10.162 0.418 . . . 0.0646 0.0131 0.0453 0.1171 0.0003 0.0644 0.0885 0.0832 0.0406 0.0540 0.0154 0.0550 0.1093 0 0.0670 0.0766 0.0764 het 1726.45 132 4 77660299 . T G 1726.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.428;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8647;MQ=58.58;MQ0=0;MQRankSum=1.139;QD=13.08;ReadPosRankSum=-0.146;VQSLOD=4.8773;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,69:132:99:1756,0,1711 4 77660731 77660731 C G exonic SHROOM3 nonsynonymous SNV SHROOM3:NM_020859:exon5:c.C1405G:p.P469A 0.44 0.42 0.49 0.27 0.61 0.43 0.5343 0.4359 0.4963 0.2508 0.5744 0.6119 0.5430 0.4416 0.56 0.44 0.61 0.41 0.63 rs344141 COSM1431106 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign not_specified RCV000456076.1 MedGen CN169374 . . . . . . 0.049 0.398 D 1.0 0.899 D 0.996 0.832 D 0.000 0.513 N 0.003 0.438 P 2.075 0.572 M 0.85 0.471 T -3.5 0.681 D 0.077 0.068 -0.896 0.484 T 0.000 0.000 T . . . 0.030 0.096 2.881 0.992 0.551 0.896 0.500 D c 0.275 0.239 1.000 0.747 0.707 0.730 0 4.63 0.570 3.326 0.515 0.852 0.362 1.000 0.715 0.579 0.285 15.816 0.783 . ENSG00000138771.10|ENSG00000138771.10 Brain_Cerebellum|Nerve_Tibial 0.5378 0.4300 0.5062 0.6447 0.2556 0.5739 0.6128 0.5675 0.4466 0.5261 0.4268 0.5586 0.6258 0.2491 0.5773 0.5982 0.5206 het 2729.79 203 4 77660731 . C G 2729.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.839;DP=203;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=10.0259;MQ=59.55;MQ0=0;MQRankSum=-0.025;QD=13.45;ReadPosRankSum=0.718;VQSLOD=4.2666;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,105:203:99:2760,0,2740 4 77675505 77675505 C T exonic SHROOM3 nonsynonymous SNV SHROOM3:NM_020859:exon7:c.C3869T:p.P1290L 0.53 0.66 0.44 0.57 0.39 0.52 0.4609 0.6349 0.4442 0.5527 0.4874 0.4097 0.4084 0.5145 0.48 0.62 0.41 0.54 0.35 rs3733242 . . . . . . . . . . . . . 0.231 0.182 T 0.0 0.026 B 0.0 0.013 B 0.301 0.039 N 1 0.090 P -1.735 0.003 N 2.23 0.181 T 1.53 0.007 N 0.018 0.003 -0.985 0.337 T 0.000 0.000 T . . . -0.169 0.079 1.272 0.479 0.039 0.012 0.043 N c -1.468 -1.438 1.000 0.462 0.707 0.730 0 -1.61 0.079 -0.569 0.059 -0.206 0.101 0.000 0.063 0.000 0.016 7.432 0.261 . . . 0.4550 0.6374 0.4384 0.2417 0.5593 0.4871 0.4183 0.3973 0.5118 0.4988 0.6239 0.4366 0.2285 0.5692 0.4860 0.4339 0.4470 het 3945.03 248 4 77675505 . C T 3945.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.670;DP=248;DS;Dels=0.00;FS=2.206;HRun=0;HaplotypeScore=6.8799;MQ=59.19;MQ0=0;MQRankSum=0.693;QD=15.91;ReadPosRankSum=-0.532;VQSLOD=4.6786;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,114:248:99:3282,0,3365 4 78806415 78806415 C T exonic MRPL1 synonymous SNV MRPL1:NM_020236:exon4:c.C408T:p.N136N 0.019 0.0015 0.026 0.001 0.026 0.05 0.0322 0.0074 0.0143 0.0003 0.0330 0.0378 0.0265 0.0543 0.03 0.0082 0.041 0.011 . rs74550505 COSM3760761 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0329 0.0061 0.0163 0.0331 0.0002 0.0319 0.0406 0.0359 0.0549 0.0263 0.0086 0.0167 0.0232 0.0006 0.0292 0.0395 0.0245 het 659.83 70 4 78806415 . C T 659.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=70;Dels=0.00;FS=2.120;HRun=0;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;MQRankSum=0.294;QD=9.43;ReadPosRankSum=-0.454;VQSLOD=5.9645;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,25:70:99:690,0,1036 4 78987157 78987157 A G exonic FRAS1 nonsynonymous SNV FRAS1:NM_001166133:exon2:c.A95G:p.D32G,FRAS1:NM_025074:exon2:c.A95G:p.D32G 0.55 0.75 0.47 0.54 0.42 0.49 0.4563 0.6954 0.5082 0.4962 0.4008 0.4143 0.4391 0.4452 0.49 0.68 0.4 0.56 . rs4859905 COSM3760762;COSM3760763;COSM3760764;COSM3760765 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000251438.1|RCV000309845.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . 1.0 0.632 T 0.0 0.026 B 0.0 0.013 B 0.001 0.410 N 0.998 0.222 P -1.91 0.002 N 0.45 0.565 T 2.19 0.829 N 0.089 0.159 -0.980 0.350 T 0.000 0.000 T . . . 1.773 0.274 14.83 0.515 0.045 0.012 0.043 N c -0.390 -0.172 1.000 0.747 0.757 0.989 0 5.9 0.949 2.805 0.474 0.138 0.222 1.000 0.715 0.999 0.750 12.549 0.554 VWC out|VWFC domain;VWFC domain . . 0.4468 0.6917 0.4966 0.5324 0.4941 0.4028 0.3951 0.4462 0.4359 0.4982 0.6939 0.5227 0.5099 0.4981 0.4014 0.4094 0.4346 hom 657.21 24 4 78987157 . A G 657.21 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.38;VQSLOD=12.8202;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:51.16:690,51,0 4 79353667 79353667 G A exonic FRAS1 nonsynonymous SNV FRAS1:NM_001166133:exon38:c.G5126A:p.R1709Q,FRAS1:NM_025074:exon38:c.G5126A:p.R1709Q . . . . . . 9.129e-06 0 0 0 0 1.634e-05 0 0 . . . . . rs763116888 . . . . . . . . . . . . . 0.661 0.047 T 0.007 0.131 B 0.001 0.063 B 0.225 0.035 N 1 0.090 N -0.46 0.027 N 0.73 0.507 T 0.23 0.046 N 0.089 0.178 -0.876 0.501 T 0.067 0.276 T 0.005 0.113 T -2.722 0.002 0.001 0.337 0.020 0.016 0.051 N c -2.757 -2.873 1.0 0.983 0.672 0.522 0 -12.3 0.000 -1.348 0.027 -3.388 0.001 0.000 0.063 0.000 0.016 8.990 0.350 . . . 2.459e-05 6.594e-05 3.004e-05 0 0 4.511e-05 2.712e-05 0 0 6.457e-05 0.0001 0 0 0 0 6.664e-05 0 het 364.72 34 4 79353667 . G A 364.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.417;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.087;QD=10.73;ReadPosRankSum=0.227;VQSLOD=10.3368;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,14:34:99:395,0,543 4 79387464 79387464 A G exonic FRAS1 nonsynonymous SNV FRAS1:NM_025074:exon50:c.A7132G:p.K2378E 0.97 0.88 0.99 1. 1. 1. 0.9901 0.9035 0.9920 1 1 0.9979 0.9889 0.9999 0.97 0.92 1. 0.98 . rs7684722 . . Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000253922.1|RCV000395153.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.001 0.437 N 0.837 0.287 P -1.205 0.008 N . . . . . . 0.322 0.383 -0.928 0.445 T 0.000 0.000 T . . . 2.178 0.323 17.36 0.986 0.424 0.132 0.175 N c -0.525 -0.221 1.000 0.400 0.707 0.730 0 5.53 0.825 7.764 0.840 0.104 0.200 1.000 0.715 0.999 0.750 14.982 0.708 . . . 0.9913 0.9039 0.9906 0.9893 1 1.0000 0.9983 0.9907 0.9999 0.9755 0.9176 0.9869 0.9934 1 0.9994 0.9987 0.9929 hom 4908.18 153 4 79387464 . A G 4908.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.811;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.2434;MQ=59.17;MQ0=0;MQRankSum=1.984;QD=32.08;ReadPosRankSum=-0.185;VQSLOD=9.1779;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,151:153:99:4863,340,0 4 79387586 79387586 A G exonic FRAS1 synonymous SNV FRAS1:NM_025074:exon50:c.A7254G:p.K2418K 0.31 0.11 0.27 0.47 0.27 0.52 0.3120 0.1409 0.3272 0.4741 0.2588 0.2621 0.3350 0.5303 0.21 0.12 0.25 0.28 . rs34840208 COSM3760771;COSM3760772 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Cryptophthalmos_syndrome RCV000398451.1 MedGen:OMIM:SNOMED_CT C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2978 0.1302 0.2874 0.3114 0.4620 0.2435 0.2494 0.3073 0.5090 0.2277 0.1298 0.2919 0.3179 0.4783 0.2378 0.2482 0.2546 hom 1574.33 49 4 79387586 . A G 1574.33 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=32.13;VQSLOD=9.0859;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1607,126,0 4 79432455 79432455 A C exonic FRAS1 synonymous SNV FRAS1:NM_025074:exon64:c.A9808C:p.R3270R 0.4 0.45 0.29 0.46 0.27 0.52 0.3268 0.4303 0.3214 0.4771 0.2486 0.2499 0.3393 0.5404 0.3 0.39 0.25 0.43 . rs3749488 COSM3760775;COSM3760776 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign Cryptophthalmos_syndrome RCV000367732.1 MedGen:OMIM:SNOMED_CT C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3224 0.4331 0.3072 0.3302 0.4786 0.2415 0.2488 0.3169 0.5189 0.3051 0.4128 0.3118 0.3245 0.4887 0.2327 0.2422 0.2597 hom 2932.15 102 4 79432455 . A C 2932.15 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.104;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8166;MQ=59.36;MQ0=0;MQRankSum=1.005;QD=28.75;ReadPosRankSum=0.831;VQSLOD=8.0482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,101:102:99:2965,202,0 4 79443850 79443850 G A exonic FRAS1 nonsynonymous SNV FRAS1:NM_025074:exon69:c.G10696A:p.V3566I 0.51 0.5 0.45 0.46 0.55 0.59 0.5471 0.5240 0.4730 0.5076 0.4843 0.5562 0.5369 0.6175 0.54 0.52 0.55 0.53 . rs931606 COSM5618069;COSM5618070 1(breast) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000245288.1|RCV000265442.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.205 P 0.84 0.212 L . . . . . . 0.146 0.172 -0.927 0.446 T 0.000 0.000 T . . . 0.721 0.163 8.962 0.184 0.006 0.409 0.263 N c -0.780 -0.554 1.000 0.409 0.707 0.730 0 4.93 0.643 2.461 0.445 0.244 0.267 1.000 0.715 0.442 0.261 4.841 0.128 . ENSG00000138772.8|ENSG00000138772.8 Esophagus_Muscularis|Nerve_Tibial 0.5200 0.5075 0.4266 0.5695 0.4832 0.4582 0.5409 0.5432 0.5986 0.5003 0.5001 0.4462 0.5563 0.4925 0.4548 0.5153 0.4754 hom 584.32 20 4 79443850 . G A 584.32 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.22;VQSLOD=13.9060;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.15:617,48,0 4 79455714 79455714 C G exonic FRAS1 synonymous SNV FRAS1:NM_025074:exon71:c.C11037G:p.P3679P 0.52 0.31 0.44 0.78 0.46 0.63 0.4884 0.3385 0.4744 0.7841 0.4452 0.4381 0.5056 0.6524 0.41 0.34 0.44 0.5 . rs4975070 COSM4005805;COSM4005806 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000245809.1|RCV000292730.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4898 0.3384 0.4677 0.5779 0.7897 0.4382 0.4293 0.4974 0.6484 0.4219 0.3465 0.4747 0.5927 0.8187 0.4307 0.4141 0.4306 hom 3731.27 108 4 79455714 . C G 3731.27 Mask AC=2;AF=1.00;AN=2;DP=108;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=34.55;VQSLOD=9.4796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3731,304,0 4 79455733 79455733 C T exonic FRAS1 synonymous SNV FRAS1:NM_025074:exon71:c.C11056T:p.L3686L 0.52 0.31 0.44 0.78 0.46 0.63 0.4884 0.3384 0.4742 0.7833 0.4451 0.4383 0.5056 0.6523 0.41 0.34 0.44 0.5 . rs4975139 COSM4005808;COSM4005807 1(urinary_tract) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000250559.1|RCV000333665.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4895 0.3386 0.4672 0.5777 0.7896 0.4380 0.4291 0.4965 0.6480 0.4218 0.3467 0.4736 0.5927 0.8178 0.4301 0.4139 0.4318 hom 2757.66 81 4 79455733 . C T 2757.66 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=34.05;VQSLOD=9.7665;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2791,226,0 4 80329343 80329343 T C exonic GK2 synonymous SNV GK2:NM_033214:exon1:c.A12G:p.P4P 0.29 0.12 0.31 0.46 0.15 0.47 0.2453 0.1593 0.3717 0.4720 0.1770 0.1684 0.2450 0.4535 0.15 0.14 0.16 0.32 0.14 rs6837906 COSM4159223 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2422 0.1495 0.3553 0.1794 0.4619 0.1670 0.1581 0.2142 0.4177 0.1661 0.1409 0.3297 0.1921 0.4610 0.1587 0.1391 0.1955 het 588.09 45 4 80329343 . T C 588.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.447;DP=45;Dels=0.00;FS=3.691;HRun=0;HaplotypeScore=0.7887;MQ=58.12;MQ0=0;MQRankSum=-0.609;QD=13.07;ReadPosRankSum=0.448;VQSLOD=4.8284;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,26:45:99:618,0,545 4 80905990 80905990 C G exonic ANTXR2 nonsynonymous SNV ANTXR2:NM_001145794:exon13:c.G1069C:p.A357P,ANTXR2:NM_001286780:exon13:c.G838C:p.A280P,ANTXR2:NM_001286781:exon13:c.G838C:p.A280P,ANTXR2:NM_058172:exon13:c.G1069C:p.A357P 0.8 0.72 0.82 0.96 0.7 0.84 0.7699 0.7215 0.8744 0.9468 0.7152 0.7285 0.7591 0.8262 0.71 0.72 0.71 0.71 . rs12647691 COSM3760782;COSM3760783 1(large_intestine) Benign Hyaline_fibromatosis_syndrome RCV000284632.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT C2745948:228600:238861002:238867003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -2.005 0.002 N 2.61 0.407 T 3.92 0.001 N 0.054 0.036 -0.974 0.365 T 0.000 0.000 T . . . -0.108 0.084 1.672 0.151 0.004 0.009 0.034 N c -1.357 -1.190 0.997 0.351 0.706 0.609 0 2.85 0.322 2.566 0.454 -0.459 0.055 0.998 0.411 0.227 0.223 6.124 0.193 Anthrax toxin receptor\x2c extracellular ENSG00000163297.12 Adipose_Subcutaneous 0.7683 0.7171 0.8578 0.7642 0.9403 0.7111 0.7221 0.7457 0.8184 0.7500 0.7339 0.8573 0.8046 0.9468 0.7177 0.7368 0.7705 hom 283.15 11 4 80905990 . C G 283.15 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=53.81;MQ0=0;QD=25.74;VQSLOD=7.2265;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:24.08:316,24,0 4 81884722 81884722 G A exonic C4orf22 nonsynonymous SNV C4orf22:NM_152770:exon6:c.G658A:p.V220I,C4orf22:NM_001206997:exon7:c.G709A:p.V237I 0.81 0.64 0.85 0.94 0.84 0.85 0.8365 0.6653 0.9029 0.9393 0.8901 0.8279 0.8579 0.8565 0.78 0.67 0.83 0.78 0.77 rs1052325 . . . . . . . . . . . . . 0.857 0.032 T 0.0 0.026 B 0.001 0.040 B 0.053 0.228 N 1.000 0.090 P -1.24 0.008 N 1.57 0.293 T 0.36 0.037 N 0.043 0.023 -1.041 0.171 T 0.000 0.000 T . . . 0.779 0.168 9.333 0.701 0.089 0.036 0.087 N c -0.990 -0.831 0.000 0.035 0.487 0.133 0 2.83 0.320 0.878 0.276 -0.109 0.115 0.812 0.296 0.032 0.149 5.714 0.171 . . . 0.8444 0.6599 0.9053 0.7724 0.9359 0.8918 0.8309 0.8329 0.8593 0.8038 0.6597 0.8654 0.7517 0.9452 0.8883 0.8476 0.8480 het 590.02 59 4 81884722 . G A 590.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.812;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.539;QD=10.00;ReadPosRankSum=-0.600;VQSLOD=6.8106;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,28:59:99:620,0,724 4 81967188 81967188 C T exonic BMP3 nonsynonymous SNV BMP3:NM_001201:exon2:c.C613T:p.L205F 1. 1. 1. 1. 1. 1. 0.9996 0.9953 0.9997 1 1 1 0.9989 1 1. 1. 1. 1. 0.98 rs6831040 . . . . . . . . . . . . . 0.128 0.269 T 0.015 0.158 B 0.012 0.149 B 0.020 0.271 N 1 0.090 P 2.43 0.707 M -0.18 0.658 T -1.55 0.375 N 0.057 0.040 -1.057 0.125 T 0.000 0.000 T . . . 1.035 0.193 10.86 0.954 0.263 0.079 0.138 N c -1.227 -1.253 0.000 0.029 0.487 0.133 0 -1.34 0.086 0.302 0.188 -0.352 0.070 0.418 0.261 0.922 0.397 2.880 0.053 Transforming growth factor-beta\x2c N-terminal . . 0.9997 0.9960 0.9996 1 1 1 1 1 1 0.9991 0.9968 0.9988 1 1 1 1 1 hom 8287.72 250 4 81967188 . C T 8287.72 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.7297;MQ=59.32;MQ0=0;QD=33.15;VQSLOD=5.7256;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8287,662,0 4 83582064 83582064 G T exonic SCD5 nonsynonymous SNV SCD5:NM_024906:exon4:c.C736A:p.L246M 0.3 0.079 0.49 0.48 0.29 0.31 0.3256 0.1003 0.5992 0.4532 0.2543 0.3063 0.3227 0.3160 0.24 0.11 0.31 0.23 0.28 rs3733228 COSM4418376 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D 0.471 0.347 P 0.323 0.401 B . . . 1 0.407 P . . . . . . -0.45 0.148 N 0.03 0.011 -0.883 0.496 T 0.000 0.000 T . . . 0.210 0.114 4.785 0.484 0.040 0.171 0.195 N c -0.343 -0.442 0.468 0.207 0.554 0.246 0 3.92 0.444 1.564 0.358 0.998 0.613 0.005 0.169 0.002 0.062 11.799 0.512 Fatty acid desaturase domain ENSG00000249242.3 Muscle_Skeletal 0.3411 0.0963 0.5824 0.2567 0.4527 0.2650 0.3132 0.3303 0.3224 0.2541 0.1010 0.4988 0.2285 0.4503 0.2593 0.3054 0.2914 het 3080.65 250 4 83582064 . G T 3080.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.907;DP=250;DS;Dels=0.00;FS=12.178;HRun=0;HaplotypeScore=6.3278;MQ=58.59;MQ0=0;MQRankSum=0.456;QD=12.32;ReadPosRankSum=0.412;VQSLOD=3.5586;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:3111,0,3743 4 83582211 83582211 C G exonic SCD5 nonsynonymous SNV SCD5:NM_024906:exon4:c.G589C:p.E197Q 0.61 0.49 0.74 0.62 0.63 0.64 0.6538 0.5069 0.8163 0.6072 0.5836 0.6550 0.6615 0.6792 0.61 0.51 0.66 0.58 0.52 rs3733227 . . . . . . . . . . . . . 0.403 0.104 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.214 P . . . . . . 0.28 0.042 N 0.024 0.007 -0.974 0.363 T 0.000 0.000 T . . . 0.288 0.122 5.578 0.817 0.133 0.000 0.002 N c -0.847 -0.861 0.024 0.136 0.554 0.283 0 3.67 0.411 1.390 0.339 0.101 0.200 0.276 0.249 0.019 0.132 9.397 0.374 Fatty acid desaturase domain ENSG00000145284.7 Cells_Transformed_fibroblasts 0.6616 0.5022 0.8070 0.6708 0.6148 0.5852 0.6556 0.6692 0.6809 0.6045 0.4913 0.7919 0.6333 0.6247 0.5762 0.6618 0.6347 het 2693.09 200 4 83582211 . C G 2693.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.501;DP=200;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0336;MQ=58.77;MQ0=0;MQRankSum=1.161;QD=13.47;ReadPosRankSum=-0.347;VQSLOD=4.8842;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,97:200:99:2723,0,2979 4 83785582 83785582 T C exonic SEC31A nonsynonymous SNV SEC31A:NM_001191049:exon10:c.A1352G:p.N451S,SEC31A:NM_001077206:exon11:c.A1367G:p.N456S,SEC31A:NM_001077207:exon11:c.A1367G:p.N456S,SEC31A:NM_001077208:exon11:c.A1367G:p.N456S,SEC31A:NM_001300744:exon11:c.A1367G:p.N456S,SEC31A:NM_001300745:exon11:c.A1367G:p.N456S,SEC31A:NM_001318119:exon11:c.A1367G:p.N456S,SEC31A:NM_016211:exon11:c.A1367G:p.N456S,SEC31A:NM_001318120:exon13:c.A1367G:p.N456S . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.617 0.067 T 0.0 0.026 B 0.0 0.040 B 0.652 0.105 N 1 0.090 N -0.76 0.017 N 1.45 0.352 T -1.02 0.289 N 0.005 0.022 -1.015 0.254 T 0.028 0.119 T 0.002 0.039 T -3.754 0.000 0.001 0.155 0.004 0.044 0.099 N c -2.598 -2.589 1.000 0.747 0.722 0.854 0 -6.5 0.017 -2.163 0.014 -3.432 0.001 0.000 0.063 0.001 0.043 9.857 0.401 . . . 4.064e-06 0 2.979e-05 0 0 0 0 0 0 3.23e-05 0 0 0 0 0 6.666e-05 0 het 1090.95 75 4 83785582 . T C 1090.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.147;DP=75;Dels=0.00;FS=4.674;HRun=0;HaplotypeScore=0.9734;MQ=59.19;MQ0=0;MQRankSum=0.345;QD=14.55;ReadPosRankSum=1.089;VQSLOD=4.3406;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:1121,0,866 4 83788344 83788344 A T exonic SEC31A synonymous SNV SEC31A:NM_001191049:exon8:c.T993A:p.G331G,SEC31A:NM_001077206:exon9:c.T1008A:p.G336G,SEC31A:NM_001077207:exon9:c.T1008A:p.G336G,SEC31A:NM_001077208:exon9:c.T1008A:p.G336G,SEC31A:NM_001300744:exon9:c.T1008A:p.G336G,SEC31A:NM_001300745:exon9:c.T1008A:p.G336G,SEC31A:NM_001318119:exon9:c.T1008A:p.G336G,SEC31A:NM_016211:exon9:c.T1008A:p.G336G,SEC31A:NM_001318120:exon11:c.T1008A:p.G336G 1. 0.99 1. 1. 1. 1. 0.9990 0.9884 0.9998 1 1 1 1 1 1. 0.99 1. 1. 1. rs2045478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9992 0.9888 0.9997 1 1 1 1 0.9995 1 0.9971 0.9896 1 1 1 1 1 1 hom 4681.83 160 4 83788344 . A T 4681.83 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9916;MQ=59.16;MQ0=0;QD=29.26;VQSLOD=7.4226;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4681,361,0 4 83795806 83795806 T C exonic SEC31A synonymous SNV SEC31A:NM_001191049:exon5:c.A582G:p.R194R,SEC31A:NM_001077206:exon6:c.A597G:p.R199R,SEC31A:NM_001077207:exon6:c.A597G:p.R199R,SEC31A:NM_001077208:exon6:c.A597G:p.R199R,SEC31A:NM_001300744:exon6:c.A597G:p.R199R,SEC31A:NM_001300745:exon6:c.A597G:p.R199R,SEC31A:NM_001318119:exon6:c.A597G:p.R199R,SEC31A:NM_016211:exon6:c.A597G:p.R199R,SEC31A:NM_001318120:exon8:c.A597G:p.R199R 0.35 0.1 0.68 0.26 0.56 0.34 0.5133 0.1760 0.7277 0.2581 0.6214 0.5848 0.4989 0.3771 0.44 0.19 0.57 0.26 0.61 rs10025654 COSM5619291;COSM5619292 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5243 0.1714 0.7114 0.5074 0.2527 0.6067 0.5830 0.5548 0.3777 0.4585 0.1837 0.6647 0.4868 0.2491 0.6126 0.5855 0.5695 het 2077.32 151 4 83795806 . T C 2077.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.747;DP=151;Dels=0.00;FS=3.801;HRun=1;HaplotypeScore=3.8415;MQ=59.09;MQ0=0;MQRankSum=1.703;QD=13.76;ReadPosRankSum=-0.251;VQSLOD=5.1921;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,76:151:99:2107,0,1968 4 83838217 83838217 G A exonic THAP9 nonsynonymous SNV THAP9:NM_024672:exon5:c.G852A:p.M284I,THAP9:NM_001317776:exon6:c.G420A:p.M140I 0.97 0.91 1. 1. 1. 1. 0.9928 0.9283 0.9962 1 1 0.9991 0.9945 0.9991 0.98 0.94 1. 0.99 1. rs1031639 . . . . . . . . . . . . . 0.799 0.031 T 0.0 0.026 B 0.0 0.013 B 0.127 0.028 N 1 0.090 P 0.69 0.170 N 1.94 0.227 T -2.12 0.481 N 0.087 0.083 -1.044 0.161 T 0.000 0.000 T . . . -3.012 0.001 0.001 0.487 0.040 0.013 0.045 N c -2.185 -2.254 0.997 0.354 0.707 0.730 0 -7.84 0.011 -0.497 0.065 -0.932 0.025 0.002 0.151 0.001 0.043 6.357 0.205 . . . 0.9944 0.9271 0.9966 1 1 1 0.9991 0.9963 0.9989 0.9795 0.9284 1 1 1 1 0.9995 0.9959 hom 3914.85 128 4 83838217 . G A 3914.85 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=7.1267;MQ=58.41;MQ0=0;QD=30.35;VQSLOD=5.9487;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,127:128:99:3914,331,0 4 83838262 83838262 G T exonic THAP9 nonsynonymous SNV THAP9:NM_024672:exon5:c.G897T:p.L299F,THAP9:NM_001317776:exon6:c.G465T:p.L155F 0.33 0.065 0.65 0.2 0.55 0.34 0.4939 0.1421 0.7206 0.1999 0.6048 0.5653 0.4747 0.3775 0.42 0.15 0.56 0.25 0.65 rs897945 COSM5425643 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.499 0.078 T 0.906 0.480 P 0.272 0.382 B 0.528 0.052 N 0.974 0.255 P 0.73 0.189 N 0.88 0.460 T 2.38 0.003 N 0.111 0.238 -0.952 0.407 T 0.000 0.000 T . . . -0.478 0.057 0.250 0.996 0.749 0.727 0.353 D c -0.241 -0.241 0.474 0.207 0.563 0.310 0 2.85 0.322 0.354 0.197 0.025 0.148 0.879 0.307 0.617 0.292 9.192 0.362 . ENSG00000251022.2|ENSG00000251022.2|ENSG00000251022.2|ENSG00000251022.2|ENSG00000251022.2|ENSG00000168152.8 Artery_Tibial|Brain_Cortex|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial 0.5058 0.1344 0.7049 0.4701 0.1991 0.5953 0.5644 0.5303 0.3765 0.4343 0.1482 0.6478 0.4735 0.1803 0.5976 0.5697 0.5560 het 1629.64 161 4 83838262 . G T 1629.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.271;DP=161;Dels=0.00;FS=11.115;HRun=3;HaplotypeScore=3.5435;MQ=58.89;MQ0=0;MQRankSum=0.026;QD=10.12;ReadPosRankSum=-2.486;VQSLOD=3.4273;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,68:161:99:1660,0,2514 4 83839799 83839799 A G exonic THAP9 nonsynonymous SNV THAP9:NM_024672:exon5:c.A2434G:p.N812D,THAP9:NM_001317776:exon6:c.A2002G:p.N668D 0.97 0.91 1. 1. 1. 1. 0.9930 0.9292 0.9962 1 1 0.9991 0.9945 0.9990 0.98 0.94 1. 0.99 1. rs6535411 . . . . . . . . . . . . . 0.855 0.027 T 0.0 0.026 B 0.0 0.013 B 0.006 0.011 N 1 0.090 P 0 0.065 N -2.65 0.902 D -0.63 0.185 N 0.003 0.001 -0.915 0.462 T 0.000 0.000 T . . . -2.834 0.002 0.001 0.385 0.026 0.021 0.062 N c -1.963 -1.964 0.006 0.112 0.554 0.283 0 -3.23 0.048 -0.454 0.068 -1.618 0.009 0.000 0.063 0.002 0.062 1.372 0.021 . . . 0.9944 0.9273 0.9966 1 1 1 0.9991 0.9962 0.9989 0.9795 0.9285 1 1 1 1 0.9995 0.9959 hom 2595.44 86 4 83839799 . A G 2595.44 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;QD=30.18;VQSLOD=8.6933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2628,199,0 4 83900043 83900043 A G exonic LIN54 synonymous SNV LIN54:NM_001115007:exon3:c.T138C:p.V46V,LIN54:NM_001115008:exon3:c.T138C:p.V46V,LIN54:NM_001288997:exon3:c.T138C:p.V46V,LIN54:NM_194282:exon3:c.T801C:p.V267V 1. 0.99 1. 1. 1. 1. 0.9990 0.9888 0.9997 1 1 1 1 1 1. 0.99 1. 1. 0.95 rs6535422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 0.9890 0.9997 1 1 1 1 0.9994 1 0.9972 0.9899 1 1 1 1 1 1 hom 3322.02 101 4 83900043 . A G 3322.02 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;QD=32.89;VQSLOD=9.4967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3322,253,0 4 84191031 84191031 A G exonic COQ2 synonymous SNV COQ2:NM_015697:exon5:c.T894C:p.D298D 0.78 0.83 0.68 0.87 0.74 0.72 0.7380 0.8187 0.6871 0.8450 0.8014 0.7136 0.7438 0.7423 0.74 0.81 0.7 0.75 . rs6535454 . . other|Benign not_specified|Coenzyme_Q10_deficiency\x2c_primary RCV000116808.4|RCV000350741.1 MedGen|MedGen:Orphanet CN169374|CN229570:ORPHA35656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7356 0.8181 0.6994 0.6813 0.8462 0.7945 0.7101 0.7127 0.7430 0.7596 0.8085 0.7098 0.6987 0.8478 0.7975 0.7171 0.7556 het 616.06 43 4 84191031 . A G 616.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.395;DP=43;Dels=0.00;FS=2.162;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.256;QD=14.33;ReadPosRankSum=-0.475;VQSLOD=5.8187;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,23:43:99:646,0,552 4 84230619 84230619 T C exonic HPSE nonsynonymous SNV HPSE:NM_001199830:exon6:c.A746G:p.K249R,HPSE:NM_001098540:exon7:c.A920G:p.K307R,HPSE:NM_001166498:exon8:c.A920G:p.K307R,HPSE:NM_006665:exon8:c.A920G:p.K307R 0.81 0.88 0.68 0.87 0.75 0.83 0.7844 0.8564 0.6833 0.8695 0.7675 0.7786 0.7704 0.7967 0.8 0.85 0.77 0.88 0.72 rs11099592 COSM1131015 1(prostate) . . . . . . . . . . . 0.366 0.117 T 0.035 0.192 B 0.046 0.233 B 0.019 0.274 N 1.000 0.202 P 1.79 0.469 L 1.53 0.304 T -0.88 0.247 N 0.023 0.019 -0.988 0.332 T 0.000 0.000 T . . . 1.029 0.193 10.82 0.870 0.164 0.781 0.382 D c -0.148 -0.008 0.995 0.337 0.615 0.372 0 4.83 0.617 3.995 0.565 1.011 0.635 0.997 0.399 0.992 0.562 7.801 0.282 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173083.10 Testis 0.7786 0.8564 0.6976 0.7931 0.8698 0.7615 0.7763 0.7690 0.7940 0.7973 0.8583 0.6957 0.8046 0.8844 0.7577 0.7681 0.7847 het 686.17 52 4 84230619 . T C 686.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.652;DP=52;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9965;MQ=57.94;MQ0=0;MQRankSum=0.119;QD=13.20;ReadPosRankSum=-0.725;VQSLOD=5.2915;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,28:52:99:716,0,558 4 84364751 84364751 A G exonic HELQ synonymous SNV HELQ:NM_001297755:exon5:c.T1281C:p.I427I,HELQ:NM_133636:exon6:c.T1482C:p.I494I 0.51 0.45 0.54 0.67 0.38 0.52 0.4668 0.4528 0.6393 0.6643 0.4669 0.4077 0.4581 0.4820 0.42 0.44 0.41 0.54 0.18 rs7665103 COSM3760788 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4555 0.4406 0.6084 0.2628 0.6618 0.4618 0.3992 0.4069 0.4651 0.4518 0.4436 0.5513 0.2715 0.6749 0.4522 0.4286 0.4817 het 797.57 93 4 84364751 . A G 797.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.653;DP=93;Dels=0.00;FS=1.885;HRun=0;HaplotypeScore=0.9665;MQ=59.28;MQ0=0;MQRankSum=-0.329;QD=8.58;ReadPosRankSum=0.036;VQSLOD=6.4059;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,35:93:99:828,0,1500 4 84370091 84370091 A G exonic HELQ synonymous SNV HELQ:NM_001297755:exon3:c.T1036C:p.L346L,HELQ:NM_133636:exon3:c.T1036C:p.L346L 0.41 0.11 0.52 0.68 0.38 0.52 0.4336 0.1408 0.6242 0.6658 0.4627 0.4018 0.4378 0.4725 0.32 0.16 0.41 0.3 0.2 rs13141136 COSM4159241 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4430 0.1384 0.6080 0.2875 0.6665 0.4625 0.4038 0.4018 0.4736 0.3675 0.1501 0.5443 0.2781 0.6743 0.4523 0.4274 0.4608 het 506.64 47 4 84370091 . A G 506.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.230;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5106;MQ=59.83;MQ0=0;MQRankSum=0.544;QD=10.78;ReadPosRankSum=-0.053;VQSLOD=6.4230;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,22:47:99:537,0,691 4 84374480 84374480 C T exonic HELQ nonsynonymous SNV HELQ:NM_001297755:exon2:c.G916A:p.V306I,HELQ:NM_001297758:exon2:c.G805A:p.V269I,HELQ:NM_001297759:exon2:c.G916A:p.V306I,HELQ:NM_133636:exon2:c.G916A:p.V306I 0.66 0.83 0.64 0.68 0.49 0.63 0.5623 0.7728 0.6941 0.6645 0.5178 0.4888 0.5661 0.5987 0.59 0.78 0.5 0.66 0.43 rs1494961 COSM5019195 1(haematopoietic_and_lymphoid_tissue);19(soft_tissue) . . . . . Upper aerodigestive tract cancers 0.89 . 21437268 rs1494961 1E-8 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.361 N 1.000 0.090 P -2.42 0.001 N 0.39 0.574 T 0.06 0.068 N 0.003 0.002 -1.011 0.267 T 0.000 0.000 T . . . 0.595 0.151 8.121 0.639 0.071 0.263 0.227 N c -0.761 -0.510 1.000 0.434 0.707 0.730 0 2.29 0.275 2.424 0.441 0.154 0.240 1.000 0.715 0.990 0.544 5.826 0.177 P-loop containing nucleoside triphosphate hydrolase ENSG00000213608.5|ENSG00000213608.5|ENSG00000163319.6|ENSG00000163312.6|ENSG00000163319.6|ENSG00000163312.6 Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis 0.5622 0.7800 0.6803 0.4493 0.6667 0.5167 0.4927 0.5240 0.5954 0.6032 0.7809 0.6244 0.4470 0.6774 0.5052 0.5188 0.5720 het 1801.22 143 4 84374480 . C T 1801.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.529;DP=143;Dels=0.00;FS=4.163;HRun=1;HaplotypeScore=5.6390;MQ=59.70;MQ0=0;MQRankSum=0.741;QD=12.60;ReadPosRankSum=-1.028;VQSLOD=4.7658;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,71:143:99:1831,0,1949 4 84376743 84376743 A T exonic HELQ nonsynonymous SNV HELQ:NM_001297755:exon1:c.T104A:p.V35E,HELQ:NM_001297758:exon1:c.T104A:p.V35E,HELQ:NM_001297759:exon1:c.T104A:p.V35E,HELQ:NM_133636:exon1:c.T104A:p.V35E 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. 0.77 0.97 rs6831595 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.013 N 1 0.090 P -1.24 0.008 N 0.53 0.606 T 1.23 0.014 N 0.056 0.089 -0.964 0.385 T 0.000 0.000 T . . . -1.530 0.016 0.002 0.523 0.046 0.002 0.010 N c -1.848 -1.815 1.000 0.747 0.442 0.072 0 -3.44 0.045 -0.701 0.051 -0.684 0.039 0.000 0.063 0.000 0.016 4.014 0.091 . . . 1.0000 1 1 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 6747.30 214 4 84376743 . A T 6747.30 Mask AC=2;AF=1.00;AN=2;DP=214;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0237;MQ=59.59;MQ0=0;QD=31.53;VQSLOD=6.9451;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6746,545,0 4 84383810 84383810 C T exonic ABRAXAS1 nonsynonymous SNV ABRAXAS1:NM_001345962:exon8:c.G715A:p.A239T,ABRAXAS1:NM_139076:exon9:c.G1042A:p.A348T 0.42 0.12 0.53 0.68 0.38 0.52 0.4308 0.1523 0.6215 0.6643 0.4605 0.3981 0.4317 0.4708 0.33 0.17 0.41 0.34 0.35 rs12642536 COSM3760790 1(skin);1(thyroid);1(large_intestine) Uncertain significance not_specified RCV000476063.1 MedGen CN169374 . . . . . . 0.011 0.564 D 0.822 0.438 P 0.436 0.438 B 0.026 0.259 N 1.000 0.090 P 1.95 0.526 M 0.81 0.485 T -0.7 0.240 N 0.031 0.014 -0.934 0.436 T 0.000 0.000 T . . . 2.475 0.359 19.31 0.989 0.475 0.294 0.236 N c -0.377 -0.480 0.035 0.142 0.707 0.730 0 2.75 0.313 0.560 0.230 0.053 0.162 0.356 0.256 0.057 0.169 10.914 0.461 . ENSG00000213608.5|ENSG00000163312.6|ENSG00000163319.6|ENSG00000163312.6 Brain_Cerebellum|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis 0.4426 0.1527 0.6064 0.2855 0.6674 0.4626 0.4034 0.4028 0.4670 0.3720 0.1635 0.5432 0.2781 0.6768 0.4516 0.4284 0.4652 het 2638.27 240 4 84383810 . C T 2638.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.442;DP=240;DS;Dels=0.00;FS=3.729;HRun=3;HaplotypeScore=6.9503;MQ=58.85;MQ0=0;MQRankSum=-1.021;QD=10.99;ReadPosRankSum=1.090;VQSLOD=4.2593;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,101:240:99:2668,0,3967 4 86844835 86844835 A G exonic ARHGAP24 synonymous SNV ARHGAP24:NM_001042669:exon2:c.A18G:p.E6E,ARHGAP24:NM_001287805:exon2:c.A48G:p.E16E,ARHGAP24:NM_001025616:exon4:c.A303G:p.E101E 0.4 0.43 0.37 0.36 0.27 0.53 0.3321 0.4069 0.4464 0.3364 0.2929 0.2664 0.3164 0.4858 0.32 0.4 0.27 0.4 0.25 rs6824722 COSM4003178 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3338 0.4062 0.4370 0.2800 0.3342 0.2991 0.2653 0.3020 0.4813 0.3137 0.4035 0.3756 0.2781 0.3306 0.2808 0.2652 0.3045 het 897.64 59 4 86844835 . A G 897.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.212;DP=59;Dels=0.00;FS=1.012;HRun=0;HaplotypeScore=1.7608;MQ=58.50;MQ0=0;MQRankSum=0.477;QD=15.21;ReadPosRankSum=-0.758;VQSLOD=5.9296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,32:59:99:928,0,668 4 86915848 86915848 T C exonic ARHGAP24 synonymous SNV ARHGAP24:NM_001346093:exon6:c.T462C:p.N154N,ARHGAP24:NM_031305:exon6:c.T762C:p.N254N,ARHGAP24:NM_001042669:exon7:c.T756C:p.N252N,ARHGAP24:NM_001287805:exon7:c.T786C:p.N262N,ARHGAP24:NM_001025616:exon9:c.T1041C:p.N347N 0.35 0.47 0.31 0.31 0.22 0.41 0.2809 0.4542 0.3594 0.2886 0.2380 0.2181 0.2775 0.3842 0.3 0.45 0.22 0.37 0.23 rs10003909 COSM4003180;COSM4003181 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2810 0.4578 0.3566 0.2163 0.2860 0.2375 0.2208 0.2481 0.3842 0.2945 0.4574 0.3153 0.2053 0.2694 0.2282 0.2220 0.2418 het 2630.48 223 4 86915848 . T C 2630.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.680;DP=223;DS;Dels=0.00;FS=8.762;HRun=0;HaplotypeScore=1.6006;MQ=59.44;MQ0=0;MQRankSum=-0.651;QD=11.80;ReadPosRankSum=-0.207;VQSLOD=4.7758;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,102:223:99:2660,0,3482 4 86915923 86915923 G A exonic ARHGAP24 synonymous SNV ARHGAP24:NM_001346093:exon6:c.G537A:p.R179R,ARHGAP24:NM_031305:exon6:c.G837A:p.R279R,ARHGAP24:NM_001042669:exon7:c.G831A:p.R277R,ARHGAP24:NM_001287805:exon7:c.G861A:p.R287R,ARHGAP24:NM_001025616:exon9:c.G1116A:p.R372R 0.25 0.1 0.29 0.31 0.22 0.41 0.2510 0.1321 0.3458 0.2889 0.2380 0.2165 0.2687 0.3832 0.19 0.14 0.22 0.24 0.2 rs11547776 COSM149706;COSM4003182 1(stomach);4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2572 0.1308 0.3414 0.2010 0.2860 0.2375 0.2199 0.2347 0.3835 0.2032 0.1413 0.2895 0.1854 0.2690 0.2285 0.2207 0.2214 het 3155.42 248 4 86915923 . G A 3155.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.226;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3093;MQ=59.51;MQ0=0;MQRankSum=1.080;QD=12.72;ReadPosRankSum=0.252;VQSLOD=5.6491;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,120:248:99:3185,0,3840 4 87684031 87684031 A G exonic PTPN13 synonymous SNV PTPN13:NM_080684:exon21:c.A3132G:p.P1044P,PTPN13:NM_006264:exon23:c.A3648G:p.P1216P,PTPN13:NM_080683:exon24:c.A3705G:p.P1235P,PTPN13:NM_080685:exon24:c.A3705G:p.P1235P 0.71 0.84 0.75 0.69 0.72 0.52 0.7113 0.8311 0.6951 0.7053 0.7275 0.7362 0.7056 0.5477 0.77 0.84 0.73 0.69 . rs710832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7105 0.8320 0.7055 0.6791 0.7036 0.7288 0.7392 0.7326 0.5486 0.7549 0.8300 0.7267 0.7219 0.7032 0.7344 0.7259 0.7235 het 1349.90 121 4 87684031 . A G 1349.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.433;DP=121;Dels=0.00;FS=1.497;HRun=0;HaplotypeScore=6.8031;MQ=58.75;MQ0=0;MQRankSum=0.601;QD=11.16;ReadPosRankSum=-1.528;VQSLOD=4.6537;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,52:121:99:1380,0,1722 4 87690998 87690998 A G exonic PTPN13 nonsynonymous SNV PTPN13:NM_080684:exon26:c.A3993G:p.I1331M,PTPN13:NM_006264:exon28:c.A4509G:p.I1503M,PTPN13:NM_080683:exon29:c.A4566G:p.I1522M,PTPN13:NM_080685:exon29:c.A4581G:p.I1527M 0.16 0.019 0.23 0.32 0.16 0.14 0.1775 0.0326 0.2632 0.3066 0.2175 0.1787 0.1722 0.1157 0.12 0.035 0.16 0.076 . rs2230600 COSM142771 2(soft_tissue);2(skin);1(prostate) . . . . . . . . . . . 0.22 0.211 T 0.374 0.324 B 0.277 0.395 B 0.158 0.177 N 1.000 0.209 P 1.15 0.294 L 1.67 0.273 T -0.12 0.095 N 0.078 0.106 -0.941 0.425 T 0.000 0.000 T . . . 1.473 0.240 13.17 0.970 0.315 0.270 0.229 N c -0.353 -0.257 0.007 0.114 0.732 0.924 0 3.14 0.350 0.142 0.158 0.190 0.249 0.115 0.229 0.998 0.697 2.036 0.033 PDZ domain ENSG00000251411.1|ENSG00000251411.1 Artery_Tibial|Esophagus_Muscularis 0.1828 0.0325 0.2640 0.1521 0.3065 0.2118 0.1752 0.1860 0.1149 0.1489 0.0369 0.2404 0.1623 0.2688 0.2187 0.1777 0.1779 het 1070.60 80 4 87690998 . A G 1070.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.684;DP=80;Dels=0.00;FS=2.389;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;MQRankSum=1.013;QD=13.38;ReadPosRankSum=-1.303;VQSLOD=6.3643;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,37:80:99:1101,0,1128 4 87706506 87706506 T G exonic PTPN13 nonsynonymous SNV PTPN13:NM_080684:exon36:c.T5668G:p.Y1890D,PTPN13:NM_006264:exon38:c.T6184G:p.Y2062D,PTPN13:NM_080683:exon39:c.T6241G:p.Y2081D,PTPN13:NM_080685:exon39:c.T6256G:p.Y2086D 0.51 0.83 0.46 0.45 0.4 0.27 0.4316 0.7841 0.4136 0.4083 0.4356 0.4224 0.4239 0.2780 0.53 0.78 0.42 0.43 . rs989902 . . . . . . . . . . . . . 0.228 0.190 T 0.0 0.026 B 0.0 0.013 B 0.605 0.109 N 1 0.090 P -1.59 0.004 N 0.78 0.494 T 1.29 0.016 N 0.018 0.003 -0.985 0.339 T 0.000 0.000 T . . . 0.578 0.149 8.005 0.579 0.057 0.001 0.008 N c -1.571 -1.454 0.006 0.111 0.706 0.609 0 2.83 0.320 0.399 0.205 -1.000 0.022 0.084 0.222 0.000 0.016 0.989 0.013 PDZ domain . . 0.4235 0.7901 0.4190 0.4667 0.4104 0.4332 0.4129 0.4385 0.2681 0.5163 0.7807 0.4510 0.5033 0.3894 0.4363 0.4050 0.4146 het 134.35 19 4 87706506 . T G 134.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.169;DP=19;Dels=0.00;FS=1.871;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=2.409;QD=7.07;ReadPosRankSum=0.465;VQSLOD=4.7946;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:164,0,281 4 87809387 87809387 G T exonic C4orf36 nonsynonymous SNV C4orf36:NM_144645:exon3:c.C107A:p.S36Y 0.88 0.71 0.95 0.91 1. 0.92 0.9570 0.7312 0.9699 0.9327 0.9997 0.9938 0.9615 0.9368 0.91 0.73 0.99 0.83 0.96 rs1550931 COSM5425561 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.344 N 1 0.090 P -2.095 0.002 N 1.66 0.275 T 6.61 0.000 N 0.272 0.365 -0.969 0.375 T 0.000 0.000 T . . . -1.531 0.016 0.002 0.079 0.001 0.006 0.027 N c -1.215 -1.060 0.244 0.186 0.554 0.246 0 2.72 0.310 1.325 0.331 -0.258 0.088 0.915 0.316 0.170 0.210 4.201 0.099 . . . 0.9623 0.7262 0.9686 0.9669 0.9298 0.9996 0.9958 0.9690 0.9397 0.9152 0.7294 0.9617 0.9868 0.9302 0.9994 0.9945 0.9674 hom 3380.94 125 4 87809387 . G T 3380.94 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7697;MQ=58.83;MQ0=0;QD=27.05;VQSLOD=7.5949;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3380,259,0 4 88036182 88036182 - AAA exonic AFF1 nonframeshift insertion AFF1:NM_001313960:exon9:c.1090_1091insAAA:p.Q364_A365insK,AFF1:NM_001313959:exon11:c.2176_2177insAAA:p.Q726_A727insK,AFF1:NM_005935:exon11:c.2176_2177insAAA:p.Q726_A727insK,AFF1:NM_001166693:exon12:c.2197_2198insAAA:p.Q733_A734insK . . . . . . . . . . . . . . . . . . . rs373231432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 762.45 91 4 88036182 . C CAAA 762.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.086;DP=91;FS=192.304;HRun=2;HaplotypeScore=664.5367;MQ=59.33;MQ0=0;MQRankSum=2.279;QD=8.38;ReadPosRankSum=-7.262;set=variant2 GT:AD:DP:GQ:PL 0/1:68,4:91:99:801,0,2041 4 88258483 88258483 T C exonic HSD17B11 nonsynonymous SNV HSD17B11:NM_016245:exon7:c.A848G:p.Q283R 0.99 1. 0.99 1. 0.97 0.98 0.9772 0.9944 0.9861 0.9998 0.9843 0.9696 0.9802 0.9763 0.98 0.99 0.97 0.97 0.97 rs9991501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9772 0.9942 0.9847 0.9922 0.9998 0.9841 0.9669 0.9754 0.9752 0.9756 0.9921 0.9761 0.9868 0.9994 0.9814 0.9616 0.9796 hom 4813.55 173 4 88258483 . T C 4813.55 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.33;MQ0=0;QD=27.82;VQSLOD=7.4935;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:4812,379,0 4 88293887 88293887 G A exonic HSD17B11 synonymous SNV HSD17B11:NM_016245:exon4:c.C531T:p.V177V 0.29 0.58 0.29 0.005 0.33 0.14 0.2828 0.5433 0.2791 0.0036 0.2690 0.3138 0.2720 0.1487 0.39 0.54 0.31 0.4 0.4 rs6531985 COSM3760801 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2790 0.5447 0.2827 0.4061 0.0039 0.2810 0.3071 0.2871 0.1518 0.3600 0.5375 0.3115 0.3940 0.0031 0.2893 0.3175 0.3047 het 1587.15 146 4 88293887 . G A 1587.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.550;DP=146;Dels=0.00;FS=2.994;HRun=1;HaplotypeScore=3.4553;MQ=59.13;MQ0=0;MQRankSum=0.728;QD=10.87;ReadPosRankSum=-0.108;VQSLOD=6.2100;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,64:146:99:1617,0,2015 4 88401616 88401616 A G exonic SPARCL1 synonymous SNV SPARCL1:NM_001291977:exon7:c.T1350C:p.D450D,SPARCL1:NM_004684:exon9:c.T1725C:p.D575D,SPARCL1:NM_001128310:exon10:c.T1725C:p.D575D,SPARCL1:NM_001291976:exon10:c.T1350C:p.D450D 0.75 0.9 0.79 0.63 0.6 0.78 0.6714 0.8604 0.8123 0.6499 0.5554 0.6018 0.6421 0.7944 0.69 0.85 0.61 0.79 0.6 rs9933 COSM5468381 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6721 0.8599 0.8097 0.6835 0.6495 0.5587 0.6005 0.6353 0.7882 0.6719 0.8522 0.7733 0.6821 0.6304 0.5688 0.5930 0.6186 hom 4359.16 135 4 88401616 . A G 4359.16 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3892;MQ=57.85;MQ0=0;QD=32.29;VQSLOD=7.9877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4359,340,0 4 88412806 88412806 T C exonic SPARCL1 nonsynonymous SNV SPARCL1:NM_001291977:exon3:c.A880G:p.T294A,SPARCL1:NM_004684:exon5:c.A1255G:p.T419A,SPARCL1:NM_001128310:exon6:c.A1255G:p.T419A,SPARCL1:NM_001291976:exon6:c.A880G:p.T294A 0.22 0.51 0.13 0.15 0.12 0.062 0.1438 0.4706 0.0761 0.1560 0.0931 0.1274 0.1156 0.0671 0.24 0.45 0.13 0.25 0.18 rs1130643 COSM4419447 1(haematopoietic_and_lymphoid_tissue);5(soft_tissue) . . . . . . . . . . . 0.562 0.063 T 0.001 0.067 B 0.0 0.013 B 0.459 0.049 N 1 0.090 P 0.515 0.136 N -2.5 0.892 D -0.5 0.166 N 0.019 0.004 -1.031 0.201 T 0.000 0.000 T . . . -1.578 0.015 0.002 0.317 0.018 0.078 0.136 N c -1.517 -1.546 0.992 0.327 0.554 0.246 0 -4.28 0.035 -0.251 0.088 -0.323 0.076 0.000 0.063 0.000 0.016 1.818 0.029 . ENSG00000272856.1|ENSG00000272856.1|ENSG00000170502.8 Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Pancreas 0.1347 0.4699 0.0839 0.1438 0.1580 0.0957 0.1269 0.1202 0.0667 0.2099 0.4454 0.0990 0.1192 0.1541 0.1025 0.1166 0.1436 het 2204.78 196 4 88412806 . T C 2204.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.234;DP=196;Dels=0.00;FS=2.476;HRun=0;HaplotypeScore=4.6513;MQ=59.04;MQ0=0;MQRankSum=-0.399;QD=11.25;ReadPosRankSum=-1.045;VQSLOD=5.3812;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,91:196:99:2235,0,2569 4 88415636 88415636 G C exonic SPARCL1 nonsynonymous SNV SPARCL1:NM_004684:exon4:c.C316G:p.H106D,SPARCL1:NM_001128310:exon5:c.C316G:p.H106D 0.58 0.88 0.5 0.44 0.38 0.56 0.4568 0.8209 0.5035 0.4353 0.3772 0.3743 0.4526 0.5717 0.52 0.81 0.37 0.67 0.39 rs1049544 COSM149708 1(haematopoietic_and_lymphoid_tissue);1(stomach);15(soft_tissue);5(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.007 0.316 N 1 0.189 P -1.83 0.003 N 1.05 0.400 T 1.62 0.006 N 0.164 0.198 -0.962 0.388 T 0.000 0.000 T . . . -1.201 0.025 0.007 0.399 0.028 0.000 0.002 N c -1.318 -1.193 0.645 0.221 0.554 0.246 0 4.25 0.495 0.543 0.228 0.067 0.174 0.000 0.063 0.002 0.062 7.981 0.292 . ENSG00000152583.8|ENSG00000198189.6|ENSG00000198189.6|ENSG00000152583.8 Adipose_Subcutaneous|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.4491 0.8215 0.4991 0.4471 0.4301 0.3859 0.3677 0.4279 0.5652 0.5016 0.8045 0.4676 0.4603 0.4151 0.3973 0.3661 0.4306 hom 3752.56 114 4 88415636 . G C 3752.56 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=58.84;MQ0=0;QD=32.92;VQSLOD=8.9352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3752,295,0 4 88416188 88416188 G T exonic SPARCL1 nonsynonymous SNV SPARCL1:NM_004684:exon3:c.C146A:p.A49D,SPARCL1:NM_001128310:exon4:c.C146A:p.A49D 0.58 0.88 0.5 0.44 0.38 0.56 0.4566 0.8209 0.5027 0.4346 0.3772 0.3742 0.4526 0.5715 0.52 0.81 0.37 0.66 0.37 rs13051 COSM149709 1(breast);1(haematopoietic_and_lymphoid_tissue);1(stomach);1(kidney);5(prostate);1(large_intestine) . . . . . . . . . . . 0.932 0.060 T 0.0 0.026 B 0.0 0.013 B 0.051 0.230 N 1.000 0.588 P -1.1 0.010 N 0.95 0.496 T 1.4 0.008 N 0.196 0.282 -0.993 0.319 T 0.000 0.000 T . . . 0.034 0.097 2.917 0.166 0.005 0.035 0.086 N c -1.034 -0.858 0.264 0.188 0.554 0.283 0 3.02 0.338 0.951 0.285 -0.286 0.084 0.802 0.295 0.054 0.167 8.876 0.343 . ENSG00000152583.8|ENSG00000198189.6|ENSG00000152583.8 Adipose_Subcutaneous|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.4483 0.8217 0.4978 0.4469 0.4296 0.3857 0.3674 0.4261 0.5632 0.5016 0.8045 0.4690 0.4603 0.4178 0.3978 0.3658 0.4308 hom 5554.21 204 4 88416188 . G T 5554.21 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.155;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4686;MQ=58.32;MQ0=0;MQRankSum=1.443;QD=27.23;ReadPosRankSum=1.511;VQSLOD=4.8043;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,203:204:99:5521,401,0 4 88416223 88416223 A G exonic SPARCL1 synonymous SNV SPARCL1:NM_004684:exon3:c.T111C:p.P37P,SPARCL1:NM_001128310:exon4:c.T111C:p.P37P 0.75 0.92 0.79 0.63 0.6 0.78 0.6725 0.8727 0.8130 0.6504 0.5558 0.6017 0.6402 0.7939 0.69 0.86 0.61 0.77 0.6 rs8342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6729 0.8720 0.8106 0.6811 0.6500 0.5590 0.6006 0.6359 0.7871 0.6744 0.8625 0.7722 0.6788 0.6315 0.5686 0.5922 0.6224 hom 5376.94 182 4 88416223 . A G 5376.94 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2082;MQ=58.87;MQ0=0;QD=29.54;VQSLOD=7.7975;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5376,418,0 4 88583135 88583135 A T exonic DMP1 nonsynonymous SNV DMP1:NM_001079911:exon5:c.A157T:p.S53C,DMP1:NM_004407:exon6:c.A205T:p.S69C 0.29 0.26 0.33 0.43 0.23 0.21 0.2813 0.2910 0.4038 0.4172 0.3359 0.2543 0.2566 0.2073 0.28 0.3 0.27 0.34 0.25 rs10019009 COSM3760816 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Hypophosphatemic_Rickets\x2c_Recessive RCV000349283.1 MedGen CN239452 . . . . . . 0.018 0.784 D 1.0 0.899 D 0.943 0.697 D 0.000 0.513 D 0.818 0.289 P 2.395 0.694 M 0.37 0.577 T -0.44 0.146 N 0.189 0.236 -0.951 0.408 T 0.000 0.000 T . . . 3.576 0.487 23.2 0.986 0.431 0.836 0.424 D c 0.320 0.234 0.000 0.062 0.500 0.196 0 4.14 0.477 2.307 0.431 1.199 0.960 0.955 0.331 0.044 0.160 9.467 0.378 . . . 0.2865 0.2917 0.3937 0.1061 0.4191 0.3418 0.2611 0.2515 0.2085 0.2971 0.2927 0.3816 0.0960 0.4333 0.3611 0.2707 0.2781 het 1781.77 125 4 88583135 . A T 1781.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.369;DP=125;Dels=0.00;FS=0.664;HRun=0;HaplotypeScore=0.9916;MQ=58.95;MQ0=0;MQRankSum=-0.389;QD=14.25;ReadPosRankSum=1.166;VQSLOD=5.9170;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,67:125:99:1812,0,1368 4 88732531 88732531 T C exonic IBSP synonymous SNV IBSP:NM_004967:exon7:c.T423C:p.N141N 0.74 0.91 0.73 0.59 0.76 0.65 0.7438 0.8972 0.7521 0.5889 0.7120 0.7624 0.7167 0.6587 0.81 0.89 0.77 0.87 0.74 rs4693878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7399 0.9011 0.7503 0.8074 0.5838 0.7233 0.7600 0.7569 0.6484 0.7842 0.8913 0.7739 0.8079 0.5737 0.7357 0.7602 0.7163 hom 2564.92 80 4 88732531 . T C 2564.92 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.689;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.40;MQ0=0;MQRankSum=-0.043;QD=32.06;ReadPosRankSum=0.303;VQSLOD=9.2360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,79:80:99:2598,205,0 4 88732692 88732692 G A exonic IBSP nonsynonymous SNV IBSP:NM_004967:exon7:c.G584A:p.G195E 0.19 0.019 0.28 0.11 0.33 0.31 0.2932 0.0551 0.3357 0.1213 0.3441 0.3311 0.3121 0.3286 0.23 0.065 0.32 0.15 0.3 rs1054627 COSM3760819 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . Bone mineral density . -0.05 21533022 rs1054627 8E-7 0.58 0.060 T 0.232 0.290 B 0.206 0.354 B 0.018 0.275 N 1 0.090 P 2.595 0.761 M 2.46 0.149 T -1.24 0.314 N 0.061 0.045 -0.975 0.361 T 0.000 0.000 T . . . 1.226 0.213 11.88 0.923 0.211 0.041 0.094 N c -0.631 -0.701 0.093 0.162 0.487 0.133 0 2.19 0.268 1.515 0.352 0.902 0.416 0.919 0.317 0.413 0.256 6.240 0.199 . ENSG00000029559.5|ENSG00000029559.5|ENSG00000029559.5 Brain_Frontal_Cortex_BA9|Esophagus_Muscularis|Muscle_Skeletal 0.2989 0.0522 0.3230 0.4575 0.1226 0.3539 0.3187 0.3154 0.3284 0.2450 0.0618 0.3249 0.4867 0.1231 0.3528 0.3259 0.3065 het 1210.08 86 4 88732692 . G A 1210.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.926;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=58.75;MQ0=0;MQRankSum=-0.761;QD=14.07;ReadPosRankSum=-0.744;VQSLOD=6.3549;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,48:86:99:1240,0,973 4 88732746 88732746 A G exonic IBSP nonsynonymous SNV IBSP:NM_004967:exon7:c.A638G:p.D213G 0.74 0.91 0.73 0.59 0.76 0.65 0.7410 0.8972 0.7506 0.5868 0.7107 0.7617 0.7135 0.6466 0.81 0.89 0.77 0.87 0.7 rs13144371 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.042 0.239 N 1 0.090 P -2.56 0.000 N 3.16 0.077 T 0.55 0.027 N 0.015 0.002 -1.031 0.201 T 0.000 0.000 T . . . -0.182 0.077 1.196 0.187 0.006 0.005 0.023 N c -1.579 -1.435 0.111 0.167 0.487 0.133 0 2.57 0.298 -0.504 0.064 -1.058 0.020 0.000 0.063 0.007 0.100 3.596 0.075 . . . 0.7389 0.9014 0.7494 0.8074 0.5822 0.7213 0.7596 0.7561 0.6470 0.7842 0.8918 0.7751 0.8079 0.5769 0.7356 0.7597 0.7159 hom 2458.97 77 4 88732746 . A G 2458.97 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=31.93;VQSLOD=9.3797;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2492,196,0 4 88732763 88732763 A G exonic IBSP nonsynonymous SNV IBSP:NM_004967:exon7:c.A655G:p.R219G 0.26 0.4 0.27 0.23 0.19 0.17 0.2102 0.3776 0.2127 0.2117 0.1565 0.2033 0.1851 0.1526 0.27 0.36 0.22 0.34 0.23 rs17013181 COSM3760820 1(large_intestine) . . . . . . . . . . . 0.23 0.183 T 0.0 0.026 B 0.0 0.013 B 0.526 0.052 N 1 0.090 P -0.29 0.037 N 2.73 0.119 T 0.33 0.039 N 0.025 0.007 -0.903 0.477 T 0.000 0.000 T . . . 0.436 0.136 6.923 0.832 0.141 0.002 0.011 N c -1.118 -1.102 0.240 0.186 0.487 0.133 0 3.27 0.364 0.210 0.171 -0.401 0.062 0.000 0.063 0.000 0.016 7.409 0.260 . . . 0.2073 0.3859 0.2250 0.1178 0.2035 0.1527 0.2129 0.2056 0.1495 0.2432 0.3697 0.2303 0.0993 0.1876 0.1581 0.2032 0.1918 het 601.59 72 4 88732763 . A G 601.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.217;DP=72;Dels=0.00;FS=2.036;HRun=2;HaplotypeScore=1.9957;MQ=59.42;MQ0=0;MQRankSum=0.463;QD=8.36;ReadPosRankSum=-0.674;VQSLOD=6.3536;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,26:72:99:632,0,1322 4 88732911 88732911 C T exonic IBSP nonsynonymous SNV IBSP:NM_004967:exon7:c.C803T:p.A268V 0.21 0.27 0.25 0.29 0.13 0.11 0.1646 0.2589 0.2559 0.2781 0.1256 0.1414 0.1305 0.0933 0.19 0.26 0.15 0.27 0.16 rs1054628 COSM3760821 1(bone);1(large_intestine) . . . . . . . . . . . 0.117 0.282 T 0.017 0.163 B 0.042 0.227 B 0.284 0.149 N 1.000 0.209 P 1.1 0.281 L 2.55 0.138 T -1.17 0.299 N 0.06 0.044 -0.932 0.438 T 0.000 0.000 T . . . 3.852 0.520 23.4 0.997 0.812 0.117 0.166 N c -0.599 -0.502 0.416 0.202 0.487 0.133 0 3.47 0.387 0.626 0.240 0.653 0.293 0.017 0.192 0.854 0.356 13.244 0.593 . . . 0.1656 0.2591 0.2567 0.0589 0.2651 0.1220 0.1492 0.1481 0.0918 0.1823 0.2552 0.2363 0.0530 0.2413 0.1299 0.1471 0.1592 het 1015.42 86 4 88732911 . C T 1015.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.866;DP=86;Dels=0.00;FS=4.337;HRun=0;HaplotypeScore=0.9894;MQ=59.22;MQ0=0;MQRankSum=1.797;QD=11.81;ReadPosRankSum=-0.697;VQSLOD=5.9131;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,40:86:99:1045,0,1312 4 88732918 88732918 A T exonic IBSP nonsynonymous SNV IBSP:NM_004967:exon7:c.A810T:p.E270D 0.19 0.0083 0.28 0.11 0.33 0.31 0.2947 0.0511 0.3362 0.1214 0.3450 0.3333 0.3135 0.3320 0.23 0.06 0.32 0.14 0.32 rs1054629 COSM3760822 1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.129 0.268 T 0.189 0.277 B 0.207 0.355 B 0.010 0.302 N 0.998 0.225 P 2.79 0.817 M 2.52 0.142 T -0.95 0.253 N 0.076 0.067 -0.949 0.413 T 0.000 0.000 T . . . 3.361 0.462 22.9 0.995 0.702 0.092 0.148 N c -0.582 -0.595 0.058 0.151 0.487 0.133 0 0.073 0.136 -0.243 0.089 1.028 0.649 0.467 0.265 0.988 0.529 1.913 0.031 . ENSG00000029559.5|ENSG00000029559.5|ENSG00000029559.5 Brain_Frontal_Cortex_BA9|Esophagus_Muscularis|Muscle_Skeletal 0.2992 0.0480 0.3227 0.4571 0.1224 0.3543 0.3201 0.3153 0.3288 0.2441 0.0589 0.3246 0.4868 0.1205 0.3526 0.3264 0.3086 het 1224.87 90 4 88732918 . A T 1224.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.570;DP=90;Dels=0.00;FS=4.225;HRun=1;HaplotypeScore=2.6565;MQ=59.26;MQ0=0;MQRankSum=0.085;QD=13.61;ReadPosRankSum=1.183;VQSLOD=5.6731;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,46:90:99:1255,0,1185 4 89311962 89311962 T C exonic HERC6 nonsynonymous SNV HERC6:NM_001165136:exon4:c.T595C:p.C199R,HERC6:NM_017912:exon4:c.T595C:p.C199R 0.082 0.0038 0.18 0.12 0.093 0.068 0.0966 0.0204 0.2115 0.1043 0.0890 0.0932 0.0938 0.0763 0.067 0.022 0.09 0.087 . rs12510688 COSM4419448;COSM4419449 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.012 0.784 D 0.202 0.281 B 0.19 0.347 B 0.007 0.316 N 0.001 0.452 P -0.3 0.036 N -1.29 0.795 T -1.23 0.401 N 0.055 0.461 -1.019 0.241 T 0.001 0.002 T . . . 3.606 0.491 23.2 0.996 0.745 0.948 0.621 D c -0.193 -0.033 0.047 0.147 0.638 0.428 0 3.42 0.381 4.594 0.605 0.043 0.157 0.996 0.391 0.995 0.604 9.622 0.387 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II . . 0.1023 0.0189 0.2113 0.0814 0.1079 0.0945 0.0906 0.1080 0.0753 0.0704 0.0223 0.1850 0.0861 0.1057 0.0910 0.0810 0.1018 het 632.65 54 4 89311962 . T C 632.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.851;DP=54;Dels=0.00;FS=1.067;HRun=1;HaplotypeScore=0.6651;MQ=57.73;MQ0=0;MQRankSum=0.242;QD=11.72;ReadPosRankSum=0.121;VQSLOD=5.2028;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,27:54:99:663,0,726 4 89415396 89415396 T C exonic HERC5 synonymous SNV HERC5:NM_016323:exon18:c.T2358C:p.L786L 1. 1. 1. 1. 1. 1. 0.9988 0.9997 1 1 1 0.9979 1 1 1. 1. 1. 1. 0.98 rs6857425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9987 0.9996 0.9998 1 1 1.0000 0.9972 0.9998 1 0.9985 0.9990 1 1 1 1 0.9975 1 hom 2630.66 88 4 89415396 . T C 2630.66 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7569;MQ=59.06;MQ0=0;QD=29.56;VQSLOD=7.8032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2664,205,0 4 89625388 89625388 A T exonic HERC3 nonsynonymous SNV HERC3:NM_001271602:exon23:c.A2443T:p.M815L,HERC3:NM_014606:exon24:c.A2797T:p.M933L 0.0012 0.0008 . . 0.005 . 0.0020 0.0007 0.0003 0 0.0008 0.0034 0 0.0002 0.0033 0.0007 0.0047 . . rs61750820 . . . . . . . . . . . . . 0.175 0.224 T 0.997 0.689 D 0.99 0.774 D 0.000 0.843 D 1 0.810 D -0.325 0.035 N 0.98 0.421 T -1.26 0.318 N 0.855 0.842 -1.037 0.182 T 0.075 0.302 T 0.015 0.362 T 4.923 0.662 25.0 0.957 0.270 0.991 0.913 D c 0.363 0.458 1.000 0.747 0.706 0.609 0 5.26 0.734 9.325 0.960 1.199 0.960 1.000 0.715 0.999 0.750 15.353 0.740 HECT domain . . 0.0024 0.0006 0.0006 0 0 0.0008 0.0048 0.0005 0.0002 0.0026 0.0010 0 0 0 0.0003 0.0047 0.0020 het 2140.76 162 4 89625388 . A T 2140.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.379;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4984;MQ=59.11;MQ0=0;MQRankSum=-0.594;QD=13.21;ReadPosRankSum=2.586;VQSLOD=4.3608;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,77:162:99:2171,0,2276 4 90169925 90169925 A G exonic GPRIN3 nonsynonymous SNV GPRIN3:NM_198281:exon2:c.T1337C:p.V446A 0.62 0.76 0.35 0.55 0.57 0.75 0.5613 0.7271 0.3563 0.6000 0.5230 0.5300 0.5661 0.7217 0.6 0.72 0.54 0.66 0.48 rs7653897 COSM3760833 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.127 0.028 N 1 0.090 P -0.46 0.027 N 3.09 0.084 T 1.06 0.013 N 0.005 0.000 -0.990 0.325 T 0.000 0.000 T . . . -3.600 0.000 0.001 0.201 0.007 0.007 0.031 N c -2.800 -2.860 1.0 0.983 0.554 0.246 0 -10.8 0.002 -1.502 0.024 -4.492 0.000 0.000 0.063 0.000 0.016 2.434 0.042 . . . 0.5496 0.7235 0.3688 0.5581 0.5962 0.5291 0.5308 0.5319 0.7177 0.5806 0.7122 0.4007 0.5633 0.6130 0.5212 0.5280 0.5306 het 1384.43 111 4 90169925 . A G 1384.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.014;DP=111;Dels=0.00;FS=3.635;HRun=0;HaplotypeScore=0.6651;MQ=59.58;MQ0=0;MQRankSum=0.599;QD=12.47;ReadPosRankSum=-1.082;VQSLOD=6.4811;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,56:111:99:1414,0,1563 4 94316763 94316763 T G exonic GRID2 synonymous SNV GRID2:NM_001286838:exon8:c.T966G:p.G322G,GRID2:NM_001510:exon9:c.T1251G:p.G417G 0.76 0.96 0.6 0.73 0.63 0.75 0.6722 0.9280 0.5212 0.7458 0.6789 0.6330 0.6817 0.7330 0.73 0.92 0.63 0.79 0.62 rs1385405 COSM1130993 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6614 0.9305 0.5275 0.6338 0.7511 0.6827 0.6288 0.6648 0.7337 0.7234 0.9192 0.5861 0.6887 0.7450 0.6813 0.6281 0.6738 het 1366.36 86 4 94316763 . T G 1366.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.481;DP=86;Dels=0.00;FS=3.208;HRun=2;HaplotypeScore=4.6617;MQ=58.97;MQ0=0;MQRankSum=-0.219;QD=15.89;ReadPosRankSum=0.951;VQSLOD=5.1488;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,54:86:99:1396,0,681 4 95170839 95170839 G A exonic SMARCAD1 nonsynonymous SNV SMARCAD1:NM_001128429:exon7:c.G740A:p.S247N,SMARCAD1:NM_001128430:exon7:c.G740A:p.S247N,SMARCAD1:NM_020159:exon7:c.G740A:p.S247N 0.46 0.2 0.54 0.7 0.38 0.59 0.4560 0.2321 0.6539 0.7183 0.3866 0.3987 0.4305 0.5813 0.34 0.24 0.39 0.33 0.43 rs11722476 COSM1130990 1(haematopoietic_and_lymphoid_tissue);1(skin);5(prostate);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.504 0.076 T 0.0 0.026 B 0.0 0.013 B 0.526 0.117 N 1.000 0.204 P -0.205 0.041 N 3.46 0.053 T -0.74 0.208 N 0.008 0.000 -1.049 0.147 T 0.000 0.000 T . . . 1.304 0.221 12.29 0.783 0.118 0.544 0.294 D c -0.520 -0.360 0.247 0.186 0.732 0.924 0 0.199 0.144 0.176 0.165 0.135 0.219 0.984 0.356 0.998 0.697 2.208 0.037 . . . 0.4661 0.2353 0.6371 0.3940 0.7087 0.3903 0.4003 0.4325 0.5805 0.3698 0.2431 0.5577 0.3808 0.6937 0.3898 0.3906 0.4141 het 1189.59 121 4 95170839 . G A 1189.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.908;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7776;MQ=59.15;MQ0=0;MQRankSum=-0.076;QD=9.83;ReadPosRankSum=-0.649;VQSLOD=6.4287;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,54:121:99:1220,0,1607 4 95173779 95173779 T C exonic SMARCAD1 nonsynonymous SNV SMARCAD1:NM_001128429:exon9:c.T902C:p.V301A,SMARCAD1:NM_001128430:exon9:c.T902C:p.V301A,SMARCAD1:NM_020159:exon9:c.T902C:p.V301A 0.73 0.96 0.71 0.71 0.57 0.64 0.6931 0.9123 0.7844 0.7480 0.6273 0.6419 0.6396 0.6721 0.7 0.91 0.6 0.75 0.17 rs7439869 COSM1431833 3(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.054 0.227 N 1 0.090 P -0.805 0.016 N 3.85 0.037 T 0.68 0.022 N 0.015 0.002 -1.002 0.294 T 0.000 0.000 T . . . -1.679 0.013 0.002 0.174 0.005 0.004 0.019 N c -1.124 -0.955 0.998 0.369 0.732 0.924 0 4.4 0.522 1.577 0.359 0.016 0.142 0.672 0.281 0.973 0.468 10.567 0.442 . . . 0.6371 0.9133 0.7375 0.5549 0.7089 0.5745 0.5792 0.6139 0.6409 0.6889 0.9082 0.7220 0.5662 0.6935 0.5677 0.5928 0.6365 het 266.31 33 4 95173779 . T C 266.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.071;DP=33;Dels=0.00;FS=3.142;HRun=0;HaplotypeScore=2.5873;MQ=59.30;MQ0=0;MQRankSum=-0.313;QD=8.07;ReadPosRankSum=0.092;VQSLOD=5.5545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,13:33:99:296,0,524 4 95186055 95186055 A G exonic SMARCAD1 synonymous SNV SMARCAD1:NM_001254949:exon2:c.A189G:p.Q63Q,SMARCAD1:NM_001128429:exon10:c.A1479G:p.Q493Q,SMARCAD1:NM_001128430:exon10:c.A1479G:p.Q493Q,SMARCAD1:NM_020159:exon10:c.A1479G:p.Q493Q 0.34 0.067 0.35 0.5 0.37 0.48 0.3912 0.1126 0.3894 0.5158 0.3681 0.3956 0.3906 0.4890 0.29 0.12 0.38 0.23 0.36 rs2306802 COSM1130988 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3885 0.1094 0.3716 0.3873 0.5073 0.3729 0.3905 0.3816 0.4848 0.3124 0.1199 0.3684 0.3742 0.5149 0.3720 0.3804 0.3781 het 309.81 38 4 95186055 . A G 309.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.523;DP=38;Dels=0.00;FS=1.921;HRun=0;HaplotypeScore=0.9958;MQ=57.43;MQ0=0;MQRankSum=0.462;QD=8.15;ReadPosRankSum=-0.769;VQSLOD=4.3447;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,13:38:99:340,0,734 4 95197520 95197520 C T exonic SMARCAD1 synonymous SNV SMARCAD1:NM_001254949:exon7:c.C549T:p.D183D,SMARCAD1:NM_001128429:exon15:c.C1839T:p.D613D,SMARCAD1:NM_001128430:exon15:c.C1839T:p.D613D,SMARCAD1:NM_020159:exon15:c.C1839T:p.D613D 0.56 0.34 0.66 0.7 0.56 0.63 0.5892 0.3704 0.7247 0.7172 0.5737 0.5741 0.5684 0.6336 0.51 0.38 0.58 0.45 0.53 rs6823404 COSM1130987 1(bone);1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5982 0.3700 0.7186 0.5269 0.7088 0.5764 0.5778 0.5867 0.6328 0.5336 0.3786 0.6802 0.5298 0.6914 0.5657 0.5871 0.5959 het 784.82 87 4 95197520 . C T 784.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.337;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6373;MQ=58.35;MQ0=0;MQRankSum=-0.144;QD=9.02;ReadPosRankSum=-0.057;VQSLOD=4.8825;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,33:87:99:815,0,1353 4 95496882 95496882 C T exonic PDLIM5 nonsynonymous SNV PDLIM5:NM_001256428:exon4:c.C41T:p.S14F,PDLIM5:NM_006457:exon5:c.C407T:p.S136F 0.22 0.11 0.24 0.38 0.31 0.13 0.2620 0.1300 0.2229 0.3871 0.2898 0.2998 0.2676 0.1431 0.25 0.13 0.31 0.21 0.37 rs2452600 COSM3760837 1(breast);1(large_intestine) . . . . . . . . . . . 0.024 0.477 D 0.93 0.498 P 0.38 0.421 B 0.014 0.287 N 0.090 0.810 P 1.7 0.440 L 0.58 0.542 T -1.73 0.410 N 0.198 0.379 -0.928 0.444 T 0.000 0.000 T . . . 2.502 0.362 19.48 0.998 0.906 0.885 0.481 D c 0.368 0.420 1.000 0.747 0.722 0.854 0 4.39 0.520 2.412 0.440 0.935 0.490 1.000 0.715 1.000 0.888 13.598 0.613 . ENSG00000163110.10|ENSG00000163110.10 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.2659 0.1273 0.2462 0.2901 0.3750 0.2755 0.3039 0.2782 0.1405 0.2556 0.1325 0.2458 0.2947 0.3578 0.2864 0.3082 0.2628 het 2835.33 250 4 95496882 . C T 2835.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.979;DP=250;DS;Dels=0.00;FS=13.123;HRun=2;HaplotypeScore=5.0804;MQ=59.14;MQ0=0;MQRankSum=0.253;QD=11.34;ReadPosRankSum=0.647;VQSLOD=4.0542;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:141,109:250:99:2865,0,4101 4 95506842 95506842 G A exonic PDLIM5 synonymous SNV PDLIM5:NM_001256428:exon5:c.G471A:p.Q157Q,PDLIM5:NM_001011513:exon6:c.G510A:p.Q170Q,PDLIM5:NM_006457:exon6:c.G837A:p.Q279Q,PDLIM5:NM_001011515:exon7:c.G528A:p.Q176Q,PDLIM5:NM_001256426:exon7:c.G528A:p.Q176Q,PDLIM5:NM_001256427:exon7:c.G528A:p.Q176Q,PDLIM5:NM_001011516:exon8:c.G468A:p.Q156Q 0.17 0.25 0.16 0.11 0.2 0.1 0.1824 0.2638 0.1546 0.0914 0.1492 0.2116 0.1509 0.0948 0.23 0.26 0.21 0.2 0.19 rs11097431 COSM4418089;COSM1130986;COSM1130985;COSM4418090 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1764 0.2664 0.1558 0.1460 0.0909 0.1494 0.2143 0.1848 0.0927 0.2105 0.2637 0.1933 0.17 0.1036 0.1472 0.2093 0.1871 het 1791.43 118 4 95506842 . G A 1791.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.508;DP=118;Dels=0.00;FS=5.996;HRun=1;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=1.440;QD=15.05;ReadPosRankSum=-1.050;VQSLOD=5.2489;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,71:118:99:1821,0,1319 4 95539267 95539267 G A exonic PDLIM5 nonsynonymous SNV PDLIM5:NM_001256425:exon7:c.G58A:p.A20T,PDLIM5:NM_001256428:exon7:c.G667A:p.A223T,PDLIM5:NM_001011513:exon8:c.G706A:p.A236T,PDLIM5:NM_006457:exon8:c.G1033A:p.A345T,PDLIM5:NM_001256427:exon9:c.G724A:p.A242T,PDLIM5:NM_001256426:exon12:c.G1120A:p.A374T 0.99 1. 0.99 1. 0.99 0.98 0.9935 0.9954 0.9973 1 0.9982 0.9946 0.9956 0.9795 0.99 1. 0.99 0.99 0.99 rs966845 . . . . . . . . . . . . . 1.0 0.041 T 0.0 0.154 B 0.001 0.080 B 0.065 0.219 N 1 0.090 P -0.57 0.023 N 0.68 0.563 T 0.5 0.036 N 0.029 0.258 -0.956 0.399 T 0.000 0.000 T . . . 0.086 0.102 3.456 0.070 0.000 0.003 0.017 N c -1.460 -1.373 1.000 0.402 0.706 0.609 0 1.63 0.228 0.074 0.144 -0.246 0.091 0.000 0.063 0.000 0.016 3.147 0.060 Domain of unknown function DUF4749 . . 0.9937 0.9953 0.9977 0.9895 1 0.9979 0.9947 0.9956 0.9794 0.9960 0.9962 0.9976 0.9934 1 0.9977 0.9951 0.9929 hom 2127.14 68 4 95539267 . G A 2127.14 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=59.39;MQ0=0;QD=31.28;VQSLOD=9.2886;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2160,178,0 4 95578588 95578588 G A exonic PDLIM5 nonsynonymous SNV PDLIM5:NM_001256425:exon10:c.G500A:p.S167N,PDLIM5:NM_001256428:exon10:c.G1109A:p.S370N,PDLIM5:NM_001011513:exon11:c.G1148A:p.S383N,PDLIM5:NM_006457:exon11:c.G1475A:p.S492N,PDLIM5:NM_001256427:exon12:c.G1166A:p.S389N,PDLIM5:NM_001256426:exon15:c.G1562A:p.S521N 0.98 0.96 0.99 1. 0.99 0.96 0.9886 0.9611 0.9959 1 0.9982 0.9947 0.9879 0.9661 0.98 0.96 0.99 0.96 0.99 rs13107595 . . . . . . . . . . . . . 0.74 0.062 T 0.0 0.067 B 0.001 0.093 B 0.000 0.843 N 1.000 0.194 P 0.36 0.120 N -2.28 0.875 D 2.48 0.002 N 0.013 0.003 -0.917 0.460 T 0.000 0.000 T . . . 1.771 0.274 14.82 0.559 0.053 0.273 0.230 N c -0.629 -0.356 1.000 0.747 0.706 0.609 0 4.68 0.582 6.255 0.722 0.202 0.252 1.000 0.715 0.994 0.587 10.606 0.444 Zinc finger\x2c LIM-type . . 0.9897 0.9611 0.9963 0.9895 1 0.9981 0.9948 0.9931 0.9657 0.9865 0.9636 0.9952 0.9934 1 0.9977 0.9949 0.9918 hom 5053.16 164 4 95578588 . G A 5053.16 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.2434;MQ=59.03;MQ0=0;QD=30.81;VQSLOD=9.3445;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5053,385,0 4 96106322 96106322 A G exonic UNC5C nonsynonymous SNV UNC5C:NM_003728:exon13:c.T2162C:p.M721T 0.49 0.092 0.75 0.57 0.71 0.55 0.6409 0.1733 0.8312 0.5731 0.7249 0.6935 0.6854 0.5887 0.53 0.19 0.7 0.5 0.67 rs2289043 COSM5617819 1(breast) . . . . . . . . . . . 0.041 0.419 D 0.189 0.277 B 0.039 0.223 B 0.000 0.629 D 0.006 0.420 P 1.78 0.463 L 0.84 0.553 T -2.47 0.539 N 0.128 0.278 -0.952 0.407 T 0.000 0.000 T . . . 2.627 0.377 20.4 0.978 0.354 0.977 0.765 D c 0.155 0.313 1.000 0.747 0.516 0.203 0 4.71 0.589 6.149 0.714 1.199 0.960 1.000 0.715 1.000 0.888 11.416 0.490 . . . 0.6614 0.1685 0.8240 0.7606 0.5671 0.7293 0.6911 0.6946 0.5898 0.5487 0.1828 0.7728 0.7233 0.5596 0.7282 0.6947 0.6772 het 2040.93 160 4 96106322 . A G 2040.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.298;DP=160;Dels=0.00;FS=2.817;HRun=0;HaplotypeScore=6.5837;MQ=58.73;MQ0=0;MQRankSum=1.057;QD=12.76;ReadPosRankSum=-0.667;VQSLOD=4.9624;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,84:160:99:2071,0,1959 4 96123981 96123981 C T exonic UNC5C synonymous SNV UNC5C:NM_003728:exon12:c.G2037A:p.A679A 0.58 0.73 0.54 0.36 0.72 0.52 0.6213 0.7131 0.4402 0.3373 0.6207 0.6918 0.6181 0.5540 0.7 0.71 0.69 0.66 0.49 rs3733212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6163 0.7174 0.4689 0.7942 0.3301 0.6174 0.6897 0.6578 0.5559 0.6628 0.7169 0.5346 0.7733 0.3205 0.6134 0.6870 0.625 het 1975.53 137 4 96123981 . C T 1975.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.189;DP=137;Dels=0.00;FS=5.470;HRun=2;HaplotypeScore=1.8100;MQ=59.56;MQ0=0;MQRankSum=1.307;QD=14.42;ReadPosRankSum=1.033;VQSLOD=5.5592;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,71:137:99:2006,0,1649 4 96127869 96127869 T G exonic UNC5C synonymous SNV UNC5C:NM_003728:exon11:c.A1812C:p.P604P 0.53 0.55 0.51 0.36 0.71 0.5 0.5883 0.5435 0.4095 0.3360 0.595 0.6718 0.6090 0.5321 0.63 0.54 0.67 0.62 0.54 rs2276322 COSM4159313 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5860 0.5450 0.4387 0.7605 0.3297 0.5894 0.6712 0.6375 0.5354 0.5950 0.5381 0.5012 0.7219 0.3218 0.5765 0.6641 0.6020 het 910.17 103 4 96127869 . T G 910.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.227;DP=103;Dels=0.00;FS=12.343;HRun=3;HaplotypeScore=2.7565;MQ=59.37;MQ0=0;MQRankSum=-0.711;QD=8.84;ReadPosRankSum=-1.859;VQSLOD=3.2104;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,37:103:99:940,0,1808 4 96256673 96256673 G A exonic UNC5C synonymous SNV UNC5C:NM_003728:exon2:c.C234T:p.P78P 0.81 0.58 0.85 1. 0.81 0.89 0.8229 0.6475 0.8901 0.9987 0.7842 0.8068 0.8068 0.8767 0.76 0.65 0.82 0.8 0.7 rs1843018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8276 0.6454 0.8792 0.7433 0.9991 0.7853 0.8136 0.8115 0.8775 0.7754 0.6429 0.8561 0.7616 1 0.7842 0.8202 0.8056 hom 1401.18 45 4 96256673 . G A 1401.18 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=31.14;VQSLOD=9.6266;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1434,111,0 4 98893437 98893437 A G exonic STPG2 synonymous SNV STPG2:NM_174952:exon7:c.T927C:p.D309D 0.41 0.37 0.54 0.24 0.47 0.47 0.4589 0.3617 0.6120 0.2565 0.4784 0.4682 0.4678 0.4735 0.43 0.36 0.47 0.37 0.57 rs783960 COSM1130976 1(kidney);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4598 0.3527 0.5996 0.5181 0.2613 0.4783 0.4605 0.4789 0.4573 0.4275 0.3471 0.5622 0.4967 0.2823 0.4658 0.4684 0.4846 het 1341.59 107 4 98893437 . A G 1341.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.483;DP=107;Dels=0.00;FS=1.574;HRun=0;HaplotypeScore=0.8667;MQ=58.91;MQ0=0;MQRankSum=-0.321;QD=12.54;ReadPosRankSum=-0.608;VQSLOD=6.4993;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1372,0,1339 4 98893476 98893476 C T exonic STPG2 synonymous SNV STPG2:NM_174952:exon7:c.G888A:p.S296S 0.41 0.37 0.54 0.24 0.48 0.47 0.4572 0.3608 0.6119 0.2565 0.4784 0.4675 0.4648 0.4647 0.43 0.36 0.47 0.34 0.57 rs783959 COSM149717 1(stomach);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4630 0.3537 0.6031 0.5140 0.2629 0.4791 0.4613 0.4782 0.4565 0.4283 0.3478 0.5622 0.4967 0.2819 0.4664 0.4693 0.4857 het 1522.98 120 4 98893476 . C T 1522.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.062;DP=120;Dels=0.00;FS=1.469;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=0.722;QD=12.69;ReadPosRankSum=0.594;VQSLOD=6.5742;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,64:120:99:1553,0,1394 4 99325652 99325652 G C exonic RAP1GDS1 nonsynonymous SNV RAP1GDS1:NM_001100430:exon5:c.G389C:p.S130T,RAP1GDS1:NM_001100428:exon6:c.G518C:p.S173T,RAP1GDS1:NM_001100429:exon6:c.G515C:p.S172T,RAP1GDS1:NM_001100426:exon7:c.G665C:p.S222T,RAP1GDS1:NM_001100427:exon7:c.G662C:p.S221T,RAP1GDS1:NM_021159:exon7:c.G665C:p.S222T . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.403 0.206 T 0.224 0.287 B 0.076 0.269 B 0.003 0.360 N 0.987 0.406 D 0.69 0.170 N 1.06 0.398 T -1.08 0.295 N 0.231 0.317 -1.067 0.100 T 0.059 0.248 T 0.006 0.170 T 1.713 0.267 14.48 0.930 0.220 0.897 0.501 D c -0.073 0.147 0.913 0.264 0.706 0.609 0 4.85 0.622 4.634 0.608 0.998 0.613 1.000 0.715 0.997 0.653 7.001 0.238 Armadillo-like helical|Armadillo-type fold;Armadillo-type fold . . . . . . . . . . . . . . . . . . . het 702.90 51 4 99325652 . G C 702.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.405;DP=51;Dels=0.00;FS=2.422;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;MQRankSum=0.122;QD=13.78;ReadPosRankSum=1.498;VQSLOD=4.6337;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,25:51:99:733,0,687 4 100045616 100045616 C T exonic ADH4 nonsynonymous SNV ADH4:NM_000670:exon9:c.G1120A:p.V374I,ADH4:NM_001306171:exon10:c.G1177A:p.V393I,ADH4:NM_001306172:exon10:c.G1177A:p.V393I 0.85 0.86 0.77 1. 0.7 0.88 0.7549 0.8239 0.8066 0.9987 0.6955 0.6837 0.72 0.8508 0.73 0.82 0.68 0.74 0.46 rs1126673 . . . . . . . . . . . . . 1.0 0.010 T 0.004 0.112 B 0.003 0.080 B 0.003 0.353 N 1.000 0.217 P -1.29 0.007 N 4.11 0.029 T 0.8 0.020 N 0.123 0.138 -0.997 0.309 T 0.000 0.000 T . . . 0.348 0.127 6.145 0.787 0.120 0.004 0.018 N c -1.103 -0.959 0.005 0.107 0.487 0.133 0 0.629 0.168 0.499 0.221 -0.369 0.067 0.998 0.411 0.590 0.287 3.592 0.075 GroES-like ENSG00000246090.2|ENSG00000172955.13|ENSG00000198099.4|ENSG00000198099.4|ENSG00000198099.4|ENSG00000246090.2|ENSG00000197894.6|ENSG00000197894.6 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Whole_Blood 0.7446 0.8178 0.7850 0.6731 0.9985 0.7042 0.6781 0.7101 0.8414 0.7433 0.8256 0.7464 0.6854 0.9981 0.6933 0.6816 0.7260 het 356.70 41 4 100045616 . C T 356.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.247;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;MQRankSum=1.082;QD=8.70;ReadPosRankSum=0.708;VQSLOD=6.4257;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,16:41:99:387,0,589 4 100048414 100048414 T C exonic ADH4 nonsynonymous SNV ADH4:NM_000670:exon7:c.A925G:p.I309V,ADH4:NM_001306171:exon8:c.A982G:p.I328V,ADH4:NM_001306172:exon8:c.A982G:p.I328V 0.85 0.86 0.77 1. 0.7 0.88 0.7560 0.8264 0.8097 0.9987 0.6973 0.6865 0.7225 0.8525 0.73 0.82 0.68 0.74 0.73 rs1126671 COSM4158708 1(thyroid) . . . . . . . . . . . 0.891 0.025 T 0.0 0.026 B 0.0 0.013 B 0.276 0.150 N 1 0.090 P 0.305 0.102 N 3.34 0.061 T -0.01 0.080 N 0.014 0.002 -1.006 0.280 T 0.000 0.000 T . . . -2.182 0.006 0.001 0.280 0.014 0.015 0.050 N c -1.795 -1.923 0.182 0.179 0.487 0.133 0 -7.29 0.013 -1.880 0.017 -0.256 0.089 0.000 0.063 0.005 0.090 3.768 0.081 Alcohol dehydrogenase\x2c C-terminal|NAD(P)-binding domain;NAD(P)-binding domain ENSG00000246090.2|ENSG00000172955.13|ENSG00000198099.4|ENSG00000198099.4|ENSG00000198099.4|ENSG00000246090.2|ENSG00000197894.6|ENSG00000197894.6 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Whole_Blood 0.7553 0.8266 0.7962 0.6770 0.9986 0.7064 0.6878 0.7168 0.8525 0.7445 0.8257 0.7464 0.6854 0.9981 0.6954 0.6829 0.7277 het 862.24 82 4 100048414 . T C 862.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.222;DP=82;Dels=0.00;FS=1.869;HRun=0;HaplotypeScore=4.8899;MQ=58.95;MQ0=0;MQRankSum=0.951;QD=10.52;ReadPosRankSum=-0.658;VQSLOD=5.5699;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,38:82:99:892,0,1040 4 100052733 100052733 C A exonic ADH4 synonymous SNV ADH4:NM_000670:exon6:c.G765T:p.P255P,ADH4:NM_001306171:exon7:c.G822T:p.P274P,ADH4:NM_001306172:exon7:c.G822T:p.P274P 0.85 0.86 0.77 1. 0.7 0.88 0.7565 0.8264 0.8101 0.9987 0.6970 0.6873 0.7225 0.8531 0.73 0.82 0.68 0.74 0.74 rs1126670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7561 0.8264 0.7974 0.6771 0.9986 0.7064 0.6888 0.7178 0.8527 0.7437 0.8254 0.7488 0.6854 0.9981 0.6931 0.6825 0.7261 het 966.69 81 4 100052733 . C A 966.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.655;DP=81;Dels=0.00;FS=0.869;HRun=0;HaplotypeScore=2.6939;MQ=58.14;MQ0=0;MQRankSum=0.173;QD=11.93;ReadPosRankSum=-0.558;VQSLOD=5.6996;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,39:81:99:997,0,1120 4 100062819 100062819 A G exonic ADH4 synonymous SNV ADH4:NM_000670:exon3:c.T135C:p.S45S,ADH4:NM_001306171:exon4:c.T192C:p.S64S,ADH4:NM_001306172:exon4:c.T192C:p.S64S 0.96 0.93 0.94 1. 0.97 0.98 0.9656 0.9314 0.9309 0.9997 0.9427 0.9708 0.9703 0.9818 0.96 0.93 0.97 0.96 0.96 rs2032349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9646 0.9312 0.9330 0.9794 0.9999 0.9419 0.9719 0.9619 0.9818 0.9581 0.9388 0.9403 0.9768 0.9994 0.9433 0.9694 0.9520 het 1334.02 118 4 100062819 . A G 1334.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.862;DP=118;Dels=0.00;FS=2.436;HRun=1;HaplotypeScore=1.7333;MQ=57.87;MQ0=0;MQRankSum=0.254;QD=11.31;ReadPosRankSum=-1.063;VQSLOD=5.1436;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,55:118:99:1364,0,1643 4 100140306 100140306 A T exonic ADH6 nonsynonymous SNV ADH6:NM_000672:exon1:c.T4A:p.C2S,ADH6:NM_001102470:exon1:c.T4A:p.C2S 1. 1. 1. 1. 1. 1. 0.9997 0.9999 1 1 1 0.9995 0.9989 1 1. 1. 1. 1. 1. rs4699735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9999 1.0000 1 1 0.9999 0.9995 1 1.0000 0.9999 1 1 1 1 0.9994 0.9999 1 hom 1912 66 4 100140306 . A T 1912 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8237;MQ=59.27;MQ0=0;QD=28.97;VQSLOD=8.6334;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1945,150,0 4 100239319 100239319 T C exonic ADH1B nonsynonymous SNV ADH1B:NM_000668:exon3:c.A143G:p.H48R,ADH1B:NM_001286650:exon4:c.A23G:p.H8R 0.84 1. 0.94 0.3 0.97 0.98 0.9064 0.9865 0.9418 0.2667 0.9952 0.9502 0.8910 0.9543 0.96 0.98 0.95 0.85 0.95 rs1229984 COSM4415083 3(haematopoietic_and_lymphoid_tissue) other|other Alcohol_dependence|Aerodigestive_tract_cancer\x2c_squamous_cell\x2c_alcohol-related\x2c_protection_against RCV000019813.2|RCV000019814.3 MedGen:OMIM|MedGen C0001973:103780|CN071716 Esophageal cancer 1.79 . 19698717 rs1229984 8E-24 0.767 0.034 T 0.0 0.026 B 0.0 0.013 B 0.001 0.406 N 0.152 0.358 P . . . 3.8 0.049 T -0.25 0.110 N 0.022 0.005 -0.998 0.305 T 0.000 0.000 T . . . 0.723 0.163 8.977 0.569 0.055 0.089 0.146 N c -0.591 -0.526 0.304 0.192 0.487 0.133 0 3.57 0.399 1.178 0.314 0.016 0.142 0.474 0.265 0.247 0.227 10.534 0.440 Alcohol dehydrogenase\x2c N-terminal|GroES-like;GroES-like . . 0.9025 0.9891 0.9440 0.7301 0.2589 0.9951 0.9619 0.8905 0.9496 0.9377 0.9876 0.9403 0.7616 0.2791 0.9969 0.9682 0.9531 hom 5987.38 203 4 100239319 . T C 5987.38 Mask AC=2;AF=1.00;AN=2;DP=203;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5162;MQ=58.33;MQ0=0;QD=29.49;VQSLOD=7.2659;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:5986,511,0 4 100263965 100263965 C T exonic ADH1C unknown UNKNOWN 0.21 0.1 0.27 0.076 0.4 0.28 0.3425 0.1470 0.3317 0.0758 0.5144 0.3968 0.3800 0.3226 0.3 0.15 0.38 0.22 . rs1693482 COSN15303906;COSN19622552;COSN20281068 3(haematopoietic_and_lymphoid_tissue) other Alcohol_dependence RCV000019810.2 MedGen:OMIM C0001973:103780 . . . . . . . . . 0.002 0.090 B 0.008 0.127 B . . . . . . 1.365 0.343 L . . . . . . 0.126 0.320 . . . . . . . . . 4.526 0.606 24.3 0.995 0.669 0.024 0.067 N n 0.705 -0.044 0.000 0.012 0.061 0.009 0 1.77 0.237 0.447 0.213 -0.374 0.066 0.005 0.169 0.317 0.240 5.700 0.170 Alcohol dehydrogenase\x2c C-terminal|NAD(P)-binding domain ENSG00000248144.1|ENSG00000198099.4|ENSG00000248144.1|ENSG00000248144.1|ENSG00000248144.1|ENSG00000248144.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Putamen_basal_ganglia|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle 0.3462 0.1424 0.3276 0.2624 0.0778 0.5167 0.4019 0.3396 0.3219 0.3361 0.1456 0.3210 0.25 0.0863 0.5140 0.4296 0.4206 hom 7966.90 250 4 100263965 . C T 7966.90 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8061;MQ=49.76;MQ0=8;QD=31.87;VQSLOD=3.4070;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:4,246:250:99:7966,635,0 4 100266112 100266112 C T exonic ADH1C unknown UNKNOWN 0.21 0.1 0.27 0.076 0.4 0.28 0.3430 0.1470 0.3316 0.0762 0.5145 0.3970 0.3811 0.3255 0.31 0.15 0.39 0.22 . rs1693425 COSN19622553;COSN20279882;COSN15303422 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3470 0.1425 0.3275 0.2642 0.0782 0.5167 0.4021 0.3401 0.3254 0.3363 0.1452 0.3218 0.2483 0.0873 0.5138 0.4301 0.4224 hom 5356.27 169 4 100266112 . C T 5356.27 Mask AC=2;AF=1.00;AN=2;DP=169;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6497;MQ=58.46;MQ0=0;QD=31.69;VQSLOD=6.8656;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,168:169:99:5356,433,0 4 100266371 100266371 A G exonic ADH1C unknown UNKNOWN 0.15 0.093 0.17 0.025 0.32 0.17 0.2454 0.1217 0.1717 0.0196 0.3704 0.2993 0.2579 0.2229 0.23 0.12 0.29 0.15 . rs1789915 COSN9974375 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2442 0.1158 0.1749 0.2109 0.0198 0.3689 0.3025 0.2497 0.2189 0.2488 0.1177 0.2076 0.1987 0.0247 0.3721 0.3206 0.2994 het 460.02 43 4 100266371 . A G 460.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.922;DP=43;Dels=0.00;FS=2.692;HRun=0;HaplotypeScore=1.8633;MQ=59.13;MQ0=0;MQRankSum=-0.575;QD=10.70;ReadPosRankSum=-1.382;VQSLOD=5.3469;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,19:43:99:490,0,537 4 100268190 100268190 A C exonic ADH1C unknown UNKNOWN 0.99 1. 0.98 1. 0.99 0.98 0.9848 0.9969 0.9854 0.9995 0.9985 0.9851 0.9670 0.9637 0.99 1. 0.99 0.99 . rs283413 . . other\x2cBenign Parkinson_disease\x2c_mitochondrial\x2cnot_specified RCV000019812.3\x2cRCV000454760.1 MedGen:OMIM\x2cMedGen C1838867:556500\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9843 0.9980 0.9861 0.9367 0.9996 0.9988 0.9879 0.9733 0.9609 0.9936 0.9984 0.9809 0.9305 0.9988 0.9997 0.9910 0.9908 hom 8150.77 250 4 100268190 . A C 8150.77 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5406;MQ=43.50;MQ0=7;QD=32.60;VQSLOD=3.4332;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8150,662,0 4 100443720 100443720 G A exonic C4orf17 nonsynonymous SNV C4orf17:NM_032149:exon3:c.G191A:p.G64E 0.31 0.34 0.22 0.24 0.3 0.44 0.2975 0.3388 0.1868 0.1936 0.1951 0.3045 0.3117 0.4155 0.32 0.34 0.31 0.34 0.35 rs13143848 COSM1131318 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.376 0.113 T 0.225 0.287 B 0.079 0.272 B 0.571 0.055 N 1 0.090 P 2.08 0.576 M 2.33 0.166 T -1.41 0.348 N 0.104 0.123 -0.930 0.442 T 0.000 0.000 T . . . -1.327 0.021 0.004 0.477 0.039 0.016 0.051 N c -0.819 -0.889 0.000 0.029 0.487 0.133 0 1.2 0.201 0.112 0.152 0.045 0.158 0.000 0.063 0.000 0.016 3.282 0.065 . . . 0.2906 0.3354 0.1970 0.3462 0.1948 0.1995 0.3058 0.2873 0.4180 0.2802 0.3296 0.2237 0.3344 0.1803 0.1981 0.2846 0.2643 het 1435.47 143 4 100443720 . G A 1435.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.223;DP=143;Dels=0.00;FS=3.044;HRun=1;HaplotypeScore=3.7265;MQ=57.81;MQ0=0;MQRankSum=-0.139;QD=10.04;ReadPosRankSum=-0.770;VQSLOD=4.7813;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,58:143:99:1465,0,2159 4 100443782 100443782 T C exonic C4orf17 nonsynonymous SNV C4orf17:NM_032149:exon3:c.T253C:p.S85P 0.58 0.93 0.35 0.4 0.36 0.65 0.4333 0.8555 0.2905 0.3278 0.2622 0.3845 0.4570 0.5864 0.41 0.8 0.21 0.4 0.43 rs13119384 COSM4002868 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.854 0.027 T 0.0 0.026 B 0.0 0.013 B 0.402 0.131 N 1 0.090 P -2.35 0.001 N 2.36 0.161 T 1.85 0.005 N 0.041 0.041 -1.016 0.248 T 0.000 0.000 T . . . -1.131 0.027 0.009 0.065 0.000 0.001 0.007 N c -1.278 -1.155 0.000 0.041 0.487 0.133 0 3.34 0.372 0.176 0.165 0.069 0.176 0.001 0.137 0.001 0.043 3.269 0.064 . . . 0.4197 0.8604 0.3038 0.5667 0.3261 0.2678 0.3789 0.4165 0.5909 0.4802 0.8405 0.3438 0.5201 0.3075 0.2572 0.3549 0.3701 het 1247.02 110 4 100443782 . T C 1247.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.084;DP=110;Dels=0.00;FS=0.711;HRun=4;HaplotypeScore=1.6281;MQ=57.87;MQ0=0;MQRankSum=-1.407;QD=11.34;ReadPosRankSum=-0.272;VQSLOD=4.5847;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,48:110:99:1277,0,1725 4 100443784 100443784 C G exonic C4orf17 synonymous SNV C4orf17:NM_032149:exon3:c.C255G:p.S85S 0.21 0.2 0.19 0.12 0.27 0.27 0.2375 0.2189 0.1418 0.1214 0.1877 0.2724 0.2461 0.2551 0.021 0.02 0.022 . 0.27 rs61732380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2339 0.2140 0.1546 0.3052 0.1206 0.1901 0.2746 0.2371 0.2549 0.2265 0.2098 0.1770 0.2953 0.1170 0.1916 0.2575 0.2285 het 1159.26 113 4 100443784 . C G 1159.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.106;DP=113;Dels=0.00;FS=1.535;HRun=0;HaplotypeScore=1.6281;MQ=57.93;MQ0=0;MQRankSum=-1.396;QD=10.26;ReadPosRankSum=0.250;VQSLOD=3.7952;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,49:113:99:1189,0,1868 4 100443800 100443800 G A exonic C4orf17 nonsynonymous SNV C4orf17:NM_032149:exon3:c.G271A:p.E91K 0.21 0.18 0.19 0.12 0.27 0.27 0.2367 0.2034 0.1419 0.1215 0.1874 0.2735 0.2467 0.2552 0.25 0.2 0.27 0.25 0.28 rs17029087 COSM5425626 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.417 0.173 T 0.042 0.201 B 0.068 0.262 B 0.013 0.014 N 1 0.090 P 2.14 0.601 M 2.25 0.178 T -0.98 0.260 N 0.04 0.029 -0.969 0.375 T 0.000 0.000 T . . . 0.091 0.102 3.517 0.935 0.227 0.030 0.077 N c -1.151 -1.219 0.000 0.029 0.487 0.133 0 0.478 0.159 0.380 0.202 -0.267 0.087 0.001 0.137 0.000 0.016 7.652 0.274 . . . 0.2327 0.1968 0.1547 0.3024 0.1206 0.1898 0.2745 0.2387 0.2545 0.2226 0.1958 0.1739 0.2953 0.1174 0.1915 0.2577 0.2300 het 1122.59 114 4 100443800 . G A 1122.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.458;DP=114;Dels=0.00;FS=1.545;HRun=1;HaplotypeScore=2.6794;MQ=57.74;MQ0=0;MQRankSum=0.052;QD=9.85;ReadPosRankSum=0.533;VQSLOD=5.0511;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,45:114:99:1153,0,1849 4 100510859 100510859 T C exonic MTTP synonymous SNV MTTP:NM_001300785:exon4:c.T534C:p.G178G,MTTP:NM_000253:exon5:c.T453C:p.G151G 0.54 0.82 0.31 0.67 0.31 0.44 0.4036 0.7614 0.2506 0.6497 0.2017 0.3594 0.3918 0.4165 0.49 0.74 0.36 0.56 0.45 rs991811 COSM4002871 2(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Abetalipoproteinemia RCV000117637.3|RCV000271514.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0008181:C1963709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3917 0.7708 0.2626 0.5817 0.6489 0.2077 0.3523 0.3766 0.4177 0.4579 0.7588 0.3278 0.5728 0.6128 0.2056 0.3378 0.3333 het 609.98 67 4 100510859 . T C 609.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.662;DP=67;Dels=0.00;FS=2.321;HRun=1;HaplotypeScore=3.6497;MQ=59.07;MQ0=0;MQRankSum=1.095;QD=9.10;ReadPosRankSum=-0.499;VQSLOD=5.9411;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,25:67:99:640,0,998 4 100516022 100516022 C G exonic MTTP nonsynonymous SNV MTTP:NM_001300785:exon7:c.C972G:p.H324Q,MTTP:NM_000253:exon8:c.C891G:p.H297Q 0.54 0.82 0.31 0.67 0.32 0.44 0.4028 0.7523 0.2512 0.6500 0.2019 0.3591 0.3899 0.4167 0.49 0.73 0.36 0.56 0.46 rs2306985 COSM4002874 2(haematopoietic_and_lymphoid_tissue);1(pancreas) Likely benign|Benign not_specified|Abetalipoproteinemia RCV000117640.2|RCV000348296.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0008181:C1963709 . . . . . . 0.579 0.063 T 0.0 0.026 B 0.0 0.013 B 0.958 0.082 N 1 0.090 P -0.695 0.019 N 1.16 0.381 T 1.01 0.014 N 0.008 0.003 -0.997 0.308 T 0.000 0.000 T . . . -0.615 0.049 0.115 0.441 0.033 0.010 0.037 N c -2.354 -2.299 0.000 0.070 0.554 0.246 0 -2.65 0.057 -0.413 0.071 -1.668 0.008 0.022 0.197 0.061 0.171 4.890 0.130 Lipid transport protein\x2c N-terminal|Vitellinogen\x2c superhelical . . 0.3911 0.7607 0.2628 0.5819 0.6489 0.2080 0.3522 0.3770 0.4178 0.4553 0.7495 0.3261 0.5767 0.6167 0.2050 0.3380 0.3296 het 1235.59 85 4 100516022 . C G 1235.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.290;DP=85;Dels=0.00;FS=3.390;HRun=0;HaplotypeScore=3.4791;MQ=58.94;MQ0=0;MQRankSum=-1.440;QD=14.54;ReadPosRankSum=0.541;VQSLOD=4.8351;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1266,0,1102 4 102751276 102751276 C T exonic BANK1 synonymous SNV BANK1:NM_001083907:exon2:c.C292T:p.L98L,BANK1:NM_017935:exon2:c.C382T:p.L128L 0.54 0.76 0.48 0.5 0.39 0.48 0.4285 0.7173 0.4433 0.4642 0.3754 0.3773 0.3869 0.4524 0.49 0.69 0.38 0.55 0.41 rs10516486 COSM3760314 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4274 0.7173 0.4494 0.4760 0.4721 0.3843 0.3753 0.3982 0.4433 0.4758 0.7052 0.4833 0.4567 0.4759 0.3886 0.3684 0.3814 het 982.92 106 4 102751276 . C T 982.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.015;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;MQRankSum=-1.109;QD=9.27;ReadPosRankSum=-0.234;VQSLOD=6.3172;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,41:106:99:1013,0,1801 4 102816467 102816467 C G exonic BANK1 nonsynonymous SNV BANK1:NM_001127507:exon5:c.C510G:p.S170R,BANK1:NM_001083907:exon6:c.C819G:p.S273R,BANK1:NM_017935:exon6:c.C909G:p.S303R 0.11 0.02 0.23 0.17 0.081 0.096 0.0893 0.0374 0.2126 0.1788 0.0573 0.0672 0.0852 0.0909 0.053 0.035 0.063 0.087 0.0082 rs62321738 COSM329170 2(haematopoietic_and_lymphoid_tissue);2(prostate) . . . . . . . . . . . 0.043 0.437 D 0.018 0.324 B 0.044 0.385 B 0.132 0.028 N 1 0.090 P 0.975 0.246 L 2.81 0.197 T -2.22 0.498 N 0.034 0.107 -1.003 0.290 T 0.000 0.001 T . . . 1.307 0.221 12.31 0.977 0.349 0.042 0.096 N c -0.584 -0.640 0.000 0.012 0.554 0.246 0 1.82 0.241 -0.184 0.096 0.887 0.390 0.000 0.063 0.276 0.233 10.262 0.424 DBB domain . . 0.0910 0.0356 0.2102 0.0932 0.1758 0.0549 0.0630 0.0858 0.0885 0.0642 0.0351 0.2120 0.1167 0.1939 0.0549 0.0604 0.0586 het 318.22 35 4 102816467 . C G 318.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DP=35;Dels=0.00;FS=4.202;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=0.052;QD=9.09;ReadPosRankSum=2.068;VQSLOD=4.6745;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,12:35:99:348,0,582 4 102965043 102965043 T C exonic BANK1 nonsynonymous SNV BANK1:NM_001127507:exon10:c.T1549C:p.C517R,BANK1:NM_001083907:exon11:c.T1858C:p.C620R,BANK1:NM_017935:exon11:c.T1948C:p.C650R 1. 1. 1. 1. 0.99 1. 0.9915 0.9971 0.9977 1 0.9841 0.9876 0.9945 0.9973 0.99 1. 0.99 1. 1. rs3113676 . . . . . . . . . . . . . 0.779 0.049 T 0.0 0.026 B 0.0 0.013 B 0.307 0.145 N 1 0.090 P -0.345 0.033 N 0.57 0.544 T 1.93 0.004 N 0.01 0.054 -1.001 0.296 T 0.000 0.000 T . . . -0.250 0.072 0.857 0.215 0.008 0.011 0.039 N c -1.042 -0.971 0.000 0.070 0.554 0.246 0 3.64 0.407 0.633 0.241 -0.351 0.070 0.009 0.180 0.375 0.250 6.424 0.208 . . . 0.9908 0.9977 0.9968 0.9900 1 0.9818 0.9869 0.9916 0.9970 0.9910 0.9982 0.9964 0.9967 1 0.9837 0.9872 0.9919 hom 3188.49 117 4 102965043 . T C 3188.49 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7308;MQ=57.69;MQ0=0;QD=27.25;VQSLOD=6.0632;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3221,250,0 4 103188709 103188709 C T exonic SLC39A8 nonsynonymous SNV SLC39A8:NM_001135148:exon7:c.G970A:p.A324T,SLC39A8:NM_022154:exon7:c.G1171A:p.A391T,SLC39A8:NM_001135146:exon8:c.G1171A:p.A391T,SLC39A8:NM_001135147:exon8:c.G1171A:p.A391T 0.024 0.0023 0.05 . 0.08 . 0.0424 0.0134 0.0348 0.0017 0.0080 0.0670 0.0269 0.0030 0.055 0.015 0.076 0.022 0.13 rs13107325 COSM4988923;COSM4988924 3(soft_tissue) . . . . . . . . . . . 0.166 0.231 T 0.888 0.468 P 0.679 0.516 P 0.000 0.629 D 1.000 0.537 D 1.945 0.524 M 0.92 0.445 T -1.12 0.289 N 0.112 0.150 -1.190 0.002 T 0.011 0.040 T . . . 7.149 0.943 34 0.998 0.876 0.902 0.509 D c 0.283 0.348 0.898 0.260 0.707 0.730 0 4.43 0.528 1.821 0.384 0.852 0.362 1.000 0.715 0.999 0.750 12.395 0.545 . . . 0.0450 0.0125 0.0372 0.1319 0.0006 0.0101 0.0691 0.0554 0.0031 0.0418 0.0166 0.0549 0.1325 0 0.0117 0.0649 0.0510 het 1540.01 121 4 103188709 . C T 1540.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.390;DP=121;Dels=0.00;FS=4.960;HRun=0;HaplotypeScore=0.6651;MQ=59.03;MQ0=0;MQRankSum=1.207;QD=12.73;ReadPosRankSum=-1.660;VQSLOD=5.1455;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,64:121:99:1570,0,1556 4 103225513 103225513 T C exonic SLC39A8 synonymous SNV SLC39A8:NM_001135148:exon5:c.A600G:p.G200G,SLC39A8:NM_022154:exon5:c.A801G:p.G267G,SLC39A8:NM_001135146:exon6:c.A801G:p.G267G,SLC39A8:NM_001135147:exon6:c.A801G:p.G267G 0.14 0.091 0.18 0.12 0.15 0.21 0.1754 0.0951 0.2264 0.1240 0.1660 0.1736 0.2002 0.2272 0.15 0.094 0.18 0.087 0.17 rs11097773 COSM5765808;COSM5765809 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1751 0.0960 0.2101 0.1578 0.1212 0.1579 0.1739 0.1782 0.2284 0.1465 0.0877 0.2007 0.1788 0.1268 0.1591 0.1745 0.1732 het 847.84 78 4 103225513 . T C 847.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.736;DP=78;Dels=0.00;FS=3.031;HRun=2;HaplotypeScore=1.8606;MQ=58.98;MQ0=0;MQRankSum=0.005;QD=10.87;ReadPosRankSum=0.155;VQSLOD=6.2083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,36:78:99:878,0,1031 4 103228734 103228734 C T exonic SLC39A8 synonymous SNV SLC39A8:NM_001135148:exon3:c.G210A:p.T70T,SLC39A8:NM_022154:exon3:c.G411A:p.T137T,SLC39A8:NM_001135146:exon4:c.G411A:p.T137T,SLC39A8:NM_001135147:exon4:c.G411A:p.T137T 0.16 0.16 0.18 0.12 0.16 0.21 0.1813 0.1633 0.2298 0.1229 0.1650 0.1735 0.1998 0.2261 0.17 0.16 0.18 0.13 0.16 rs35411892 COSM4002880 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1798 0.1654 0.2130 0.1580 0.1200 0.1582 0.1741 0.1801 0.2275 0.1665 0.1574 0.2029 0.1788 0.1258 0.1592 0.1749 0.1772 het 1822.35 147 4 103228734 . C T 1822.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.241;DP=147;Dels=0.00;FS=3.917;HRun=1;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;MQRankSum=-0.595;QD=12.40;ReadPosRankSum=1.660;VQSLOD=4.9698;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,72:147:99:1852,0,1721 4 103514658 103514658 T C exonic NFKB1 synonymous SNV NFKB1:NM_001165412:exon12:c.T1140C:p.A380A,NFKB1:NM_001319226:exon12:c.T1140C:p.A380A,NFKB1:NM_003998:exon12:c.T1143C:p.A381A 0.97 1. 0.93 1. 0.92 0.99 0.9401 0.9869 0.9558 0.9990 0.9303 0.9126 0.9339 0.9839 0.94 0.99 0.92 0.98 0.77 rs1609993 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9398 0.9877 0.9565 0.8861 0.9994 0.9310 0.9138 0.9249 0.9846 0.9425 0.9856 0.9402 0.9040 1 0.9250 0.9179 0.9173 het 1994.19 200 4 103514658 . T C 1994.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.399;DP=200;Dels=0.00;FS=2.584;HRun=1;HaplotypeScore=3.4853;MQ=58.54;MQ0=1;MQRankSum=2.293;QD=9.97;ReadPosRankSum=0.584;VQSLOD=4.4644;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,87:200:99:2024,0,2869 4 103611845 103611845 C T exonic MANBA nonsynonymous SNV MANBA:NM_005908:exon6:c.G757A:p.V253I 0.38 0.12 0.35 0.47 0.5 0.52 0.4427 0.1860 0.2962 0.4462 0.5598 0.4836 0.4681 0.4912 0.39 0.21 0.47 0.24 0.44 rs227368 COSM4155100 1(haematopoietic_and_lymphoid_tissue);1(kidney) Benign|Benign Beta-D-mannosidosis|not_specified RCV000354084.1|RCV000454742.1 MedGen:OMIM:SNOMED_CT|MedGen C0342849:248510:238047006|CN169374 . . . . . . 0.449 0.114 T 0.037 0.195 B 0.003 0.080 B 0.012 0.292 N 1.000 0.206 P 1.21 0.306 L 0.5 0.556 T -0.22 0.105 N 0.028 0.010 -0.903 0.477 T 0.000 0.000 T . . . 0.426 0.135 6.838 0.789 0.121 0.056 0.114 N c -0.962 -0.941 0.987 0.312 0.707 0.730 0 1.29 0.206 -0.114 0.106 0.059 0.165 0.001 0.137 0.294 0.236 8.922 0.346 Glycoside hydrolase\x2c family 2\x2c immunoglobulin-like beta-sandwich|Glycoside hydrolase\x2c family 2/20\x2c immunoglobulin-like beta-sandwich domain ENSG00000230069.3|ENSG00000145354.5|ENSG00000164039.10|ENSG00000145354.5|ENSG00000145354.5|ENSG00000109323.4|ENSG00000145354.5|ENSG00000248971.2|ENSG00000145354.5|ENSG00000248971.2|ENSG00000230069.3|ENSG00000109332.15|ENSG00000145354.5|ENSG00000248971.2|ENSG00000230069.3|ENSG00000145354.5|ENSG00000109332.15|ENSG00000248971.2|ENSG00000145354.5|ENSG00000248971.2|ENSG00000230069.3|ENSG00000164039.10|ENSG00000145354.5|ENSG00000248971.2|ENSG00000230069.3|ENSG00000145354.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.4436 0.1835 0.2997 0.4723 0.4408 0.5547 0.4850 0.4355 0.4932 0.4081 0.1896 0.3487 0.4404 0.4356 0.5625 0.4938 0.4938 het 2453.25 222 4 103611845 . C T 2453.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.562;DP=222;DS;Dels=0.00;FS=6.288;HRun=0;HaplotypeScore=2.7541;MQ=58.66;MQ0=2;MQRankSum=1.664;QD=11.05;ReadPosRankSum=-0.518;VQSLOD=4.9087;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,97:222:99:2483,0,3184 4 103911069 103911069 C A exonic SLC9B1 nonsynonymous SNV SLC9B1:NM_001100874:exon3:c.G99T:p.Q33H,SLC9B1:NM_139173:exon3:c.G99T:p.Q33H 1. 1. 1. 1. 0.99 1. 0.9968 0.9991 0.9987 0.9999 0.9986 0.9951 0.9989 0.9983 1. 1. 0.99 0.98 0.71 rs2715591 . . . . . . . . . . . . . 0.697 0.050 T 0.0 0.026 B 0.0 0.013 B 0.040 0.019 N 1 0.090 P -0.55 0.024 N 2.28 0.468 T 0.09 0.059 N 0.142 0.386 -0.991 0.324 T 0.000 0.000 T . . . -1.710 0.012 0.002 0.077 0.000 0.001 0.008 N c -1.606 -1.595 0.000 0.012 0.554 0.246 0 0.020 0.134 -0.715 0.051 -0.838 0.030 0.000 0.063 0.001 0.043 6.538 0.214 . . . 0.9966 0.9992 0.9984 0.9834 0.9999 0.9986 0.9955 0.9971 0.9981 0.9956 0.9981 0.9976 0.9570 1 0.9980 0.9937 0.9969 hom 1359.16 48 4 103911069 . C A 1359.16 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;QD=28.32;VQSLOD=7.8628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1392,108,0 4 103964529 103964529 A C exonic SLC9B2 nonsynonymous SNV SLC9B2:NM_001300754:exon8:c.T899G:p.F300C,SLC9B2:NM_001300756:exon8:c.T899G:p.F300C,SLC9B2:NM_178833:exon9:c.T1070G:p.F357C 0.14 0.062 0.16 0.18 0.11 0.24 0.1313 0.0585 0.1699 0.1570 0.0964 0.1165 0.1366 0.2104 0.097 0.06 0.12 0.12 0.09 rs2276976 COSM4002884;COSM4002883;COSM4002882 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.055 0.469 T 0.995 0.657 D 0.911 0.630 D 0.066 0.218 N 0.004 0.428 P 1.78 0.463 L 2.33 0.165 T -1.84 0.444 N 0.297 0.503 -1.187 0.003 T 0.001 0.002 T . . . 4.404 0.590 24.1 0.974 0.334 0.965 0.692 D c 0.534 0.492 1.000 0.448 0.707 0.730 0 5.93 0.959 6.455 0.732 1.140 0.893 1.000 0.715 0.995 0.604 16.387 0.833 Cation/H+ exchanger ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000109323.4|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.1337 0.0559 0.1706 0.1214 0.1587 0.0926 0.1181 0.1339 0.2089 0.1008 0.0562 0.1555 0.1556 0.1562 0.0971 0.1163 0.1207 het 1023.01 78 4 103964529 . A C 1023.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.078;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5657;MQ=59.06;MQ0=0;MQRankSum=0.929;QD=13.12;ReadPosRankSum=-0.360;VQSLOD=6.3616;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,39:78:99:1053,0,980 4 104013796 104013796 T C exonic BDH2 nonsynonymous SNV BDH2:NM_020139:exon4:c.A209G:p.N70S 0.16 0.049 0.18 0.15 0.15 0.3 0.1623 0.0641 0.1757 0.1276 0.1116 0.1594 0.1655 0.2643 0.13 0.066 0.16 0.12 0.074 rs1054707 COSM3760315 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.461 0.094 T 0.0 0.026 B 0.0 0.013 B 0.103 0.198 N 0.999 0.219 P -0.355 0.031 N 2.0 0.871 T 0.82 0.025 N 0.008 0.123 -1.062 0.113 T 0.001 0.003 T . . . -0.987 0.032 0.017 0.589 0.060 0.447 0.271 N c -1.112 -1.028 1.000 0.747 0.757 0.989 0 -2.62 0.058 0.121 0.154 -0.296 0.082 0.987 0.361 0.219 0.221 6.051 0.189 NAD(P)-binding domain ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.1627 0.0590 0.1770 0.1908 0.1270 0.1092 0.1586 0.1728 0.2612 0.1221 0.0610 0.1706 0.1867 0.1287 0.1025 0.1548 0.1629 het 315.43 31 4 104013796 . T C 315.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.142;DP=31;Dels=0.00;FS=3.151;HRun=0;HaplotypeScore=0.9967;MQ=58.79;MQ0=0;MQRankSum=1.075;QD=10.18;ReadPosRankSum=-0.061;VQSLOD=5.5141;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,12:31:99:345,0,489 4 104061993 104061993 C G exonic CENPE nonsynonymous SNV CENPE:NM_001286734:exon35:c.G5657C:p.S1886T,CENPE:NM_001813:exon36:c.G5732C:p.S1911T 0.21 0.18 0.22 0.15 0.18 0.33 0.1932 0.1748 0.1929 0.1283 0.1250 0.1817 0.1970 0.3239 0.18 0.18 0.18 0.15 0.11 rs1381657 COSM3760317;COSM3760316 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.501 0.077 T 0.247 0.294 B 0.092 0.285 B . . . 1 0.090 P 0.11 0.085 N -0.65 0.722 T -0.11 0.129 N 0.021 0.005 -1.099 0.042 T 0.000 0.000 T . . . -1.564 0.015 0.002 0.171 0.005 0.026 0.071 N c -1.237 -1.264 0.165 0.176 0.706 0.609 0 -1.34 0.086 -0.637 0.055 -0.267 0.087 0.000 0.063 0.001 0.043 9.766 0.395 . ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10|ENSG00000164039.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Vagina|Whole_Blood 0.1903 0.1747 0.1985 0.2369 0.1283 0.1263 0.1810 0.2 0.2979 0.1679 0.1713 0.1874 0.2185 0.1307 0.1195 0.1774 0.1933 het 750.34 73 4 104061993 . C G 750.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.906;DP=73;Dels=0.00;FS=3.562;HRun=2;HaplotypeScore=2.8926;MQ=59.68;MQ0=0;MQRankSum=0.274;QD=10.28;ReadPosRankSum=1.210;VQSLOD=5.6025;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,31:73:99:780,0,1078 4 104062223 104062223 C T exonic CENPE synonymous SNV CENPE:NM_001286734:exon35:c.G5427A:p.T1809T,CENPE:NM_001813:exon36:c.G5502A:p.T1834T 0.17 0.043 0.19 0.15 0.18 0.33 0.1909 0.0613 0.1998 0.1377 0.1302 0.1942 0.1908 0.3044 0.14 0.063 0.18 0.12 0.066 rs1381658 COSM4158729;COSM4158728 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1773 0.0564 0.1863 0.2244 0.1256 0.1261 0.1763 0.1866 0.2891 0.1342 0.0570 0.1766 0.2185 0.1311 0.1205 0.1757 0.1820 het 567.96 44 4 104062223 . C T 567.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.866;DP=44;Dels=0.00;FS=1.126;HRun=0;HaplotypeScore=1.7882;MQ=59.15;MQ0=0;MQRankSum=-1.162;QD=12.91;ReadPosRankSum=1.467;VQSLOD=5.6940;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:598,0,528 4 104082349 104082349 C T exonic CENPE synonymous SNV CENPE:NM_001286734:exon19:c.G1950A:p.Q650Q,CENPE:NM_001813:exon20:c.G2025A:p.Q675Q 0.45 0.67 0.35 0.3 0.41 0.41 0.4063 0.6013 0.3632 0.2856 0.4259 0.3976 0.4185 0.4017 0.46 0.59 0.39 0.45 0.23 rs2251634 COSM4416649;COSM4416648 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4016 0.6012 0.3742 0.4540 0.2805 0.4225 0.3912 0.4179 0.4018 0.4486 0.5911 0.3807 0.4305 0.2931 0.4200 0.3953 0.4175 het 386.40 51 4 104082349 . C T 386.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.050;DP=51;Dels=0.00;FS=1.191;HRun=1;HaplotypeScore=1.7853;MQ=60.00;MQ0=0;MQRankSum=0.010;QD=7.58;ReadPosRankSum=0.801;VQSLOD=5.4338;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,16:51:99:416,0,970 4 106317429 106317429 C G exonic PPA2 nonsynonymous SNV PPA2:NM_176867:exon3:c.G348C:p.K116N,PPA2:NM_176866:exon5:c.G540C:p.K180N,PPA2:NM_006903:exon8:c.G759C:p.K253N,PPA2:NM_176869:exon9:c.G846C:p.K282N 0.43 0.092 0.51 0.68 0.46 0.56 0.4544 0.1247 0.5434 0.6777 0.4196 0.4514 0.4240 0.5090 0.35 0.13 0.46 0.38 0.42 rs13787 COSM5480709;COSM5480708 1(large_intestine) . . . . . . . . . . . 0.069 0.355 T 0.57 0.367 P 0.198 0.351 B 0.000 0.460 D 0.955 0.263 P 2.275 0.649 M 0.81 0.485 T -2.62 0.671 D 0.011 0.152 -0.964 0.385 T 0.000 0.000 T . . . 2.568 0.370 19.90 0.988 0.456 0.104 0.157 N c -0.628 -0.622 0.002 0.088 0.732 0.924 0 0.105 0.138 -0.173 0.098 -0.959 0.024 0.000 0.063 0.080 0.181 6.729 0.224 . ENSG00000138777.15|ENSG00000138777.15|ENSG00000138777.15|ENSG00000138777.15|ENSG00000138777.15|ENSG00000138777.15|ENSG00000138777.15 Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.4487 0.1126 0.5161 0.4298 0.6530 0.4192 0.4457 0.4270 0.4894 0.3671 0.1262 0.4892 0.4404 0.6748 0.4126 0.4505 0.4429 hom 2788.46 97 4 106317429 . C G 2788.46 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6634;MQ=53.63;MQ0=0;QD=28.75;VQSLOD=4.0131;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2821,220,0 4 106474096 106474096 T C exonic ARHGEF38 synonymous SNV ARHGEF38:NM_001242729:exon1:c.T174C:p.T58T,ARHGEF38:NM_017700:exon1:c.T174C:p.T58T 1. 1. 1. 1. 1. 1. 0.9999 1 0.9999 1 1 0.9999 0.9989 1 . . . 1. 0.97 rs6533206 COSM4595198;COSM4595197 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 0.9999 1 1 1 0.9999 0.9996 1 1.0000 1 0.9988 1 1 1 1 1 hom 1857.66 65 4 106474096 . T C 1857.66 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;QD=28.58;VQSLOD=7.2907;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1891,153,0 4 106604164 106604164 C A exonic INTS12 nonsynonymous SNV INTS12:NM_001142471:exon7:c.G1115T:p.G372V,INTS12:NM_020395:exon8:c.G1115T:p.G372V 0.0012 . 0.0029 . 0.004 . 0.0033 0.0013 0.0010 0 0.0006 0.0054 0.0022 0.0008 0.0038 0.0016 0.005 . . rs115302648 . . . . . . . . . . . . . 0.243 0.175 T 0.003 0.102 B 0.004 0.093 B 0.051 0.230 N 1.000 0.480 D 0.895 0.225 L 0.9 0.453 T -0.67 0.193 N 0.133 0.153 -1.096 0.047 T 0.047 0.201 T 0.006 0.144 T 2.969 0.417 22.1 0.929 0.218 0.897 0.500 D c -0.234 -0.049 0.376 0.199 0.707 0.730 0 4.31 0.505 3.670 0.541 0.935 0.490 0.852 0.302 0.996 0.625 14.212 0.652 . . . 0.0032 0.0008 0.0013 0.0018 5.798e-05 0.0013 0.0058 0.0029 0.0009 0.0026 0.0011 0 0 0 0.0020 0.0041 0.0041 het 2433.78 218 4 106604164 . C A 2433.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.653;DP=218;Dels=0.00;FS=1.061;HRun=0;HaplotypeScore=3.5356;MQ=58.02;MQ0=0;MQRankSum=0.973;QD=11.16;ReadPosRankSum=-0.478;VQSLOD=4.7051;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:122,95:218:99:2464,0,3258 4 106859549 106859549 G C exonic NPNT nonsynonymous SNV NPNT:NM_001033047:exon5:c.G477C:p.Q159H,NPNT:NM_001184692:exon5:c.G477C:p.Q159H,NPNT:NM_001184690:exon6:c.G528C:p.Q176H,NPNT:NM_001184691:exon6:c.G567C:p.Q189H,NPNT:NM_001184693:exon6:c.G567C:p.Q189H 0.32 0.46 0.33 0.18 0.33 0.27 0.3141 0.4139 0.3574 0.1832 0.2239 0.3212 0.3128 0.2975 0.35 0.41 0.33 0.4 0.33 rs35132891 COSM4002890;COSM4002891 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.104 0.367 T 0.997 0.689 D 0.931 0.667 D 0.000 0.843 D 0.032 0.386 P 1.985 0.540 M 1.3 0.874 T -3.7 0.705 D 0.111 0.278 -1.148 0.011 T 0.000 0.000 T . . . 2.050 0.307 16.53 0.995 0.690 0.954 0.642 D c 0.135 0.151 0.999 0.377 0.693 0.558 0 3.49 0.389 3.878 0.556 0.136 0.221 1.000 0.715 0.997 0.653 8.696 0.333 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like domain|Growth factor receptor cysteine-rich domain . . 0.3130 0.4092 0.3538 0.4023 0.1802 0.2252 0.3202 0.3386 0.3000 0.3145 0.4106 0.3675 0.4106 0.1533 0.2247 0.2938 0.2878 het 1162.54 107 4 106859549 . G C 1162.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.477;DP=107;Dels=0.00;FS=2.634;HRun=1;HaplotypeScore=2.8211;MQ=58.34;MQ0=0;MQRankSum=0.700;QD=10.86;ReadPosRankSum=0.229;VQSLOD=5.5436;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,47:107:99:1193,0,1652 4 106861730 106861730 A G exonic NPNT nonsynonymous SNV NPNT:NM_001033047:exon7:c.A700G:p.I234V,NPNT:NM_001184692:exon7:c.A700G:p.I234V,NPNT:NM_001184690:exon8:c.A751G:p.I251V,NPNT:NM_001184691:exon8:c.A790G:p.I264V,NPNT:NM_001184693:exon8:c.A790G:p.I264V 0.89 0.72 0.92 1. 0.92 0.96 0.9159 0.7210 0.9576 0.9994 0.9366 0.9182 0.9427 0.9474 0.85 0.73 0.91 0.87 0.9 rs4340795 . . . . . . . . . . . . . 0.23 0.218 T 0.0 0.026 B 0.002 0.063 B 0.079 0.210 N 1.000 0.090 P 0.045 0.081 N -2.95 0.919 D 0.68 0.022 N 0.029 0.225 -0.956 0.399 T 0.000 0.000 T . . . -1.443 0.018 0.003 0.376 0.025 0.374 0.255 N c -1.424 -1.503 1.000 0.747 0.693 0.558 0 -9.72 0.004 0.603 0.237 -0.347 0.071 0.935 0.322 0.943 0.417 10.104 0.415 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like\x2c conserved site|Growth factor receptor cysteine-rich domain . . 0.9198 0.7110 0.9501 0.9310 0.9998 0.9372 0.9145 0.9297 0.9473 0.8700 0.7269 0.9462 0.9305 1 0.9396 0.9145 0.9133 hom 7086.94 237 4 106861730 . A G 7086.94 Mask AC=2;AF=1.00;AN=2;DP=237;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6093;MQ=59.24;MQ0=0;QD=29.90;VQSLOD=7.3587;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:7085,593,0 4 107168431 107168431 G C exonic TBCK nonsynonymous SNV TBCK:NM_033115:exon8:c.C607G:p.Q203E,TBCK:NM_001163435:exon10:c.C796G:p.Q266E,TBCK:NM_001163436:exon10:c.C796G:p.Q266E,TBCK:NM_001163437:exon10:c.C679G:p.Q227E,TBCK:NM_001290768:exon11:c.C280G:p.Q94E 0.99 1. 0.99 0.97 1. 1. 0.9944 0.9997 0.9613 0.9733 1 0.9999 1 0.9999 1. 1. 1. 0.99 1. rs3775091 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.513 N 1.000 0.198 P 0.005 0.080 N 3.02 0.090 T 0.93 0.016 N 0.355 0.416 -0.933 0.436 T 0.000 0.000 T . . . -0.596 0.050 0.128 0.178 0.005 0.138 0.178 N c -0.893 -0.714 1.000 0.747 0.732 0.924 0 4.74 0.596 2.875 0.479 0.067 0.174 0.990 0.367 0.988 0.529 10.671 0.448 Protein kinase domain|Protein kinase-like domain . . 0.9932 0.9999 0.9657 1 0.9708 1 1.0000 0.9960 0.9998 0.9981 1 0.9749 1 0.9763 1 1 0.9990 hom 1398.65 47 4 107168431 . G C 1398.65 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.99;MQ0=0;QD=29.76;VQSLOD=7.8129;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1432,108,0 4 108641300 108641300 T C exonic PAPSS1 synonymous SNV PAPSS1:NM_005443:exon1:c.A36G:p.K12K 0.88 0.8 0.9 0.88 0.9 0.96 0.8977 0.7977 0.8765 0.8843 0.9081 0.9070 0.8819 0.9417 0.87 0.79 0.91 0.71 0.93 rs973126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8970 0.7902 0.8761 0.8696 0.8798 0.9050 0.9078 0.9035 0.9417 0.8725 0.7985 0.8995 0.8642 0.8884 0.9147 0.9016 0.8857 het 1828.06 155 4 108641300 . T C 1828.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.073;DP=155;Dels=0.00;FS=2.837;HRun=0;HaplotypeScore=2.8865;MQ=56.90;MQ0=0;MQRankSum=0.986;QD=11.79;ReadPosRankSum=-0.911;VQSLOD=4.2648;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,75:155:99:1858,0,1983 4 108931039 108931039 T C exonic HADH nonsynonymous SNV HADH:NM_001184705:exon2:c.T257C:p.L86P,HADH:NM_001331027:exon2:c.T269C:p.L90P,HADH:NM_005327:exon2:c.T257C:p.L86P 0.87 0.67 0.95 0.98 0.92 0.92 0.9150 0.6957 0.9680 0.9733 0.9640 0.9311 0.9229 0.9006 0.85 0.7 0.92 0.8 0.84 rs4956145 . . Benign not_specified RCV000153344.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.001 0.451 P -1.965 0.002 N -1.07 0.770 T 5.9 0.000 N 0.196 0.244 -0.932 0.439 T 0.000 0.000 T . . . 1.024 0.192 10.80 0.143 0.003 0.048 0.104 N c -0.829 -0.607 1.000 0.747 0.732 0.924 0 4.34 0.511 4.871 0.625 0.016 0.142 1.000 0.715 0.965 0.450 12.044 0.526 3-hydroxyacyl-CoA dehydrogenase\x2c NAD binding|NAD(P)-binding domain ENSG00000138796.11 Cells_Transformed_fibroblasts 0.9216 0.6939 0.9628 0.9745 0.9755 0.9607 0.9258 0.9342 0.8966 0.8664 0.6960 0.9495 0.9702 0.9765 0.9574 0.9208 0.9398 hom 2596.24 87 4 108931039 . T C 2596.24 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.135;DP=87;Dels=0.00;FS=5.416;HRun=2;HaplotypeScore=6.9753;MQ=58.09;MQ0=0;MQRankSum=1.414;QD=29.84;ReadPosRankSum=0.737;VQSLOD=3.7376;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,86:87:99:2629,165,0 4 109674116 109674116 A G exonic ETNPPL nonsynonymous SNV ETNPPL:NM_001146627:exon5:c.T379C:p.S127P,ETNPPL:NM_001331033:exon5:c.T334C:p.S112P,ETNPPL:NM_001146590:exon6:c.T535C:p.S179P,ETNPPL:NM_001331031:exon6:c.T433C:p.S145P,ETNPPL:NM_001331032:exon6:c.T433C:p.S145P,ETNPPL:NM_031279:exon6:c.T553C:p.S185P 0.27 0.3 0.15 0.5 0.081 0.25 0.1593 0.2786 0.1557 0.4881 0.0827 0.0901 0.1520 0.2251 0.15 0.27 0.088 0.23 0.11 rs1377210 COSM4002896 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.997 0.227 P -0.13 0.045 N -2.16 0.866 D 1.77 0.006 N 0.019 0.034 -0.969 0.375 T 0.000 0.000 T . . . 0.627 0.154 8.343 0.115 0.002 0.159 0.189 N c -0.717 -0.494 0.083 0.159 0.615 0.372 0 4.61 0.566 4.857 0.624 0.138 0.222 1.000 0.715 0.104 0.190 10.662 0.447 Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 1 . . 0.1540 0.2776 0.1514 0.1231 0.4819 0.0793 0.0876 0.1224 0.2235 0.1640 0.2754 0.1439 0.1159 0.4634 0.0842 0.0916 0.1084 het 1298.55 106 4 109674116 . A G 1298.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.142;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6828;MQ=59.65;MQ0=0;MQRankSum=0.902;QD=12.25;ReadPosRankSum=1.073;VQSLOD=6.4736;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,50:106:99:1329,0,1585 4 109745336 109745336 T G exonic COL25A1 synonymous SNV COL25A1:NM_001256074:exon32:c.A1848C:p.G616G,COL25A1:NM_032518:exon34:c.A1839C:p.G613G,COL25A1:NM_198721:exon34:c.A1839C:p.G613G 0.31 0.34 0.26 0.35 0.34 0.24 0.3279 0.3581 0.2131 0.3882 0.3380 0.3528 0.3708 0.2520 0.35 0.34 0.36 0.34 0.3 rs7689008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3222 0.3553 0.2190 0.3351 0.3756 0.3449 0.3519 0.3417 0.2571 0.3558 0.3673 0.2679 0.3278 0.3724 0.3417 0.3578 0.3296 het 1896.85 186 4 109745336 . T G 1896.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.347;DP=186;Dels=0.00;FS=1.173;HRun=0;HaplotypeScore=11.7949;MQ=58.49;MQ0=0;MQRankSum=-0.022;QD=10.20;ReadPosRankSum=-0.117;VQSLOD=3.0698;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,80:186:99:1927,0,2780 4 109769942 109769942 T C exonic COL25A1 synonymous SNV COL25A1:NM_001256074:exon23:c.A1326G:p.P442P,COL25A1:NM_032518:exon26:c.A1407G:p.P469P,COL25A1:NM_198721:exon26:c.A1407G:p.P469P 0.0094 0.0023 . . 0.031 0.013 0.0186 0.0038 0.0093 0.0001 0.0045 0.0264 0.0156 0.0183 0.022 0.0052 0.03 . 0.016 rs112032233 COSM328152 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0198 0.0040 0.0118 0.0810 5.799e-05 0.0050 0.0254 0.0183 0.0183 0.0150 0.0049 0.0107 0.1026 0 0.0031 0.0239 0.0133 het 709.78 74 4 109769942 . T C 709.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.432;DP=74;Dels=0.00;FS=3.176;HRun=2;HaplotypeScore=1.6988;MQ=58.52;MQ0=0;MQRankSum=0.164;QD=9.59;ReadPosRankSum=0.723;VQSLOD=5.0867;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,31:74:99:740,0,1195 4 110384790 110384790 A G exonic SEC24B synonymous SNV SEC24B:NM_001042734:exon2:c.A867G:p.P289P,SEC24B:NM_001318085:exon2:c.A867G:p.P289P,SEC24B:NM_001318086:exon2:c.A867G:p.P289P,SEC24B:NM_006323:exon2:c.A867G:p.P289P,SEC24B:NM_001300813:exon3:c.A960G:p.P320P 0.071 0.11 0.059 . 0.093 0.083 0.0948 0.1284 0.0434 0.0005 0.0514 0.1123 0.1075 0.1089 0.11 0.12 0.11 0.12 0.11 rs33911248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0912 0.1277 0.0453 0.1250 0.0003 0.0511 0.1146 0.0970 0.1076 0.1006 0.1327 0.0561 0.1159 0 0.0524 0.1066 0.0957 het 1472.04 127 4 110384790 . A G 1472.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.252;DP=127;Dels=0.00;FS=4.557;HRun=0;HaplotypeScore=3.6540;MQ=59.27;MQ0=0;MQRankSum=0.210;QD=11.59;ReadPosRankSum=1.275;VQSLOD=5.1417;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,63:127:99:1502,0,1770 4 110603784 110603784 T C exonic MCUB synonymous SNV MCUB:NM_017918:exon5:c.T498C:p.S166S 0.69 0.86 0.62 0.52 0.66 0.75 0.6753 0.8188 0.6232 0.5466 0.6820 0.6584 0.6718 0.7550 0.72 0.82 0.66 0.76 0.72 rs3733611 COSM4002900;COSM4002899 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6688 0.8201 0.6220 0.5875 0.5427 0.6794 0.6634 0.6713 0.7528 0.7100 0.8249 0.5895 0.5695 0.5342 0.6951 0.6765 0.6885 het 2232.29 175 4 110603784 . T C 2232.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.344;DP=175;Dels=0.00;FS=1.194;HRun=1;HaplotypeScore=5.4523;MQ=59.39;MQ0=0;MQRankSum=-0.062;QD=12.76;ReadPosRankSum=0.821;VQSLOD=5.3605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,84:175:99:2262,0,2496 4 110681505 110681505 C T exonic CFI synonymous SNV CFI:NM_000204:exon6:c.G804A:p.S268S,CFI:NM_001318057:exon6:c.G804A:p.S268S,CFI:NM_001331035:exon6:c.G804A:p.S268S 0.31 0.36 0.44 0.31 0.25 0.23 0.2837 0.3579 0.4392 0.2994 0.2936 0.2554 0.2996 0.2296 0.29 0.37 0.26 0.41 0.19 rs2298749 COSM3760331 1(upper_aerodigestive_tract);1(large_intestine) Benign Atypical_hemolytic_uremic_syndrome RCV000305144.1 MedGen:Orphanet C2931788:ORPHA2134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2920 0.3645 0.4418 0.3018 0.3053 0.2920 0.2497 0.3003 0.2343 0.3022 0.3612 0.4246 0.3133 0.3038 0.2971 0.2628 0.2872 het 1506.08 130 4 110681505 . C T 1506.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.776;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5537;MQ=58.50;MQ0=0;MQRankSum=-1.546;QD=11.59;ReadPosRankSum=1.245;VQSLOD=3.7087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,63:130:99:1536,0,1566 4 110790911 110790911 A T exonic LRIT3 nonsynonymous SNV LRIT3:NM_198506:exon4:c.A1006T:p.M336L 0.47 0.39 0.4 0.49 0.64 0.43 0.5669 0.4280 0.3417 0.4940 0.6115 0.6513 0.5728 0.4903 0.57 0.43 0.65 0.38 0.65 rs764205 COSM1131303;COSM1131304;COSM3927812 4(prostate);1(thyroid) Benign|Benign not_specified|Congenital_Stationary_Night_Blindness\x2c_Recessive RCV000178414.1|RCV000366843.1 MedGen|MedGen CN169374|CN239273 . . . . . . 0.084 0.329 T 0.375 0.324 B 0.097 0.288 B 0.516 0.118 N 1 0.090 P 0.65 0.162 N -0.2 0.661 T -0.72 0.204 N 0.145 0.188 -0.918 0.458 T 0.000 0.000 T . . . 1.469 0.239 13.15 0.880 0.171 0.565 0.299 D c -0.503 -0.433 0.001 0.075 0.554 0.246 0 3.12 0.348 2.356 0.435 0.167 0.246 0.270 0.248 0.981 0.494 8.129 0.300 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000109534.12|ENSG00000180245.4|ENSG00000180245.4|ENSG00000109534.12|ENSG00000109534.12|ENSG00000183423.7|ENSG00000183423.7 Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Esophagus_Mucosa|Lung|Nerve_Tibial 0.5602 0.4211 0.3510 0.6440 0.4922 0.6191 0.6529 0.5592 0.4904 0.5637 0.4295 0.3902 0.6093 0.5167 0.6119 0.6423 0.5951 het 1952.13 174 4 110790911 . A T 1952.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.300;DP=174;Dels=0.00;FS=1.327;HRun=1;HaplotypeScore=5.3491;MQ=58.85;MQ0=0;MQRankSum=-0.336;QD=11.22;ReadPosRankSum=0.510;VQSLOD=4.6008;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,74:174:99:1982,0,2849 4 110901198 110901198 G A exonic EGF nonsynonymous SNV EGF:NM_001178131:exon13:c.G1998A:p.M666I,EGF:NM_001178130:exon14:c.G2124A:p.M708I,EGF:NM_001963:exon14:c.G2124A:p.M708I 0.62 0.88 0.58 0.67 0.36 0.5 0.4658 0.8194 0.5627 0.6886 0.3401 0.3741 0.4218 0.4820 0.53 0.81 0.38 0.67 0.47 rs2237051 COSM3760339 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Renal_Hypomagnesemia\x2c_Recessive RCV000261366.1 MedGen CN239444 . . . . . . 0.939 0.049 T 0.0 0.026 B 0.0 0.013 B 0.002 0.387 N 1.000 0.090 P -1.6 0.004 N -2.71 0.906 D 0.2 0.049 N 0.044 0.081 -0.944 0.420 T 0.000 0.000 T . . . 0.402 0.133 6.634 0.591 0.060 0.066 0.125 N c -1.303 -1.104 1.000 0.517 0.653 0.482 0 1.54 0.222 -0.003 0.127 -0.654 0.041 0.374 0.257 0.961 0.442 1.653 0.026 Six-bladed beta-propeller\x2c TolB-like . . 0.4621 0.8267 0.5470 0.4617 0.6840 0.3319 0.3741 0.4461 0.4805 0.5261 0.8174 0.5537 0.4570 0.6851 0.3438 0.3888 0.4223 het 2473.57 181 4 110901198 . G A 2473.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.367;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7467;MQ=59.53;MQ0=0;MQRankSum=1.060;QD=13.67;ReadPosRankSum=0.087;VQSLOD=6.4810;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,93:181:99:2504,0,2419 4 110914427 110914427 A T exonic EGF nonsynonymous SNV EGF:NM_001178131:exon18:c.A2633T:p.E878V,EGF:NM_001963:exon19:c.A2759T:p.E920V 0.92 0.98 0.91 1. 0.8 0.88 0.8407 0.9682 0.9380 0.9993 0.8044 0.7831 0.8315 0.8568 0.85 0.96 0.79 0.97 0.81 rs4698803 . . Benign Renal_Hypomagnesemia\x2c_Recessive RCV000323639.1 MedGen CN239444 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.066 0.022 N 1 0.090 P 0.895 0.225 L 2.01 0.957 T 1.84 0.007 N 0.038 0.018 -0.902 0.478 T 0.000 0.000 T . . . -0.961 0.033 0.019 0.786 0.119 0.003 0.017 N c -1.443 -1.415 0.991 0.324 0.615 0.372 0 1.32 0.208 -1.394 0.026 -0.688 0.038 0.000 0.063 0.007 0.100 3.243 0.063 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain . . 0.8453 0.9693 0.9312 0.8470 0.9991 0.7992 0.7837 0.8485 0.8591 0.8588 0.9638 0.9199 0.8609 0.9994 0.8007 0.7942 0.8292 hom 6043.31 202 4 110914427 . A T 6043.31 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6457;MQ=59.59;MQ0=0;QD=29.92;VQSLOD=8.3409;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:6042,490,0 4 111398208 111398208 A G exonic ENPEP nonsynonymous SNV ENPEP:NM_001977:exon1:c.A638G:p.Q213R 0.85 0.88 0.93 0.79 0.86 0.79 0.8650 0.8799 0.9472 0.8068 0.8157 0.8748 0.8655 0.8095 0.88 0.88 0.88 0.79 0.8 rs10004516 COSM3760340 1(large_intestine) . . . . . . . . . . . 0.526 0.071 T 0.154 0.265 B 0.124 0.310 B 0.711 0.100 N 1 0.090 P 1.665 0.427 L 4.27 0.025 T -0.39 0.136 N 0.029 0.010 -1.091 0.054 T 0.000 0.000 T . . . 0.272 0.120 5.421 0.820 0.135 0.223 0.215 N c -0.810 -0.801 0.981 0.301 0.554 0.283 0 0.091 0.137 -0.250 0.088 1.088 0.866 0.000 0.063 0.852 0.355 2.703 0.048 Peptidase M1\x2c membrane alanine aminopeptidase\x2c N-terminal ENSG00000138792.5|ENSG00000250511.1|ENSG00000138792.5 Cells_Transformed_fibroblasts|Lung|Lung 0.8642 0.8850 0.9417 0.8360 0.8031 0.8113 0.8765 0.8649 0.8076 0.8680 0.8849 0.9248 0.8344 0.7973 0.8227 0.8754 0.8449 hom 3199.07 103 4 111398208 . A G 3199.07 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2625;MQ=59.09;MQ0=0;QD=31.06;VQSLOD=8.9095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3232,259,0 4 113199075 113199075 A G exonic TIFA synonymous SNV TIFA:NM_052864:exon2:c.T498C:p.Y166Y 0.65 0.89 0.63 0.75 0.51 0.38 0.5586 0.8386 0.6736 0.7400 0.4698 0.5197 0.5333 0.3979 0.63 0.84 0.52 0.73 0.52 rs701759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5601 0.8427 0.6820 0.6219 0.7429 0.4694 0.5127 0.5638 0.3999 0.6072 0.8296 0.6543 0.6887 0.7466 0.4702 0.4971 0.5072 hom 1201.57 41 4 113199075 . A G 1201.57 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.564;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=1.310;QD=29.31;ReadPosRankSum=0.718;VQSLOD=8.3712;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,40:41:93.30:1235,93,0 4 113345147 113345147 A G exonic ALPK1 nonsynonymous SNV ALPK1:NM_001253884:exon5:c.A289G:p.N97D,ALPK1:NM_001102406:exon6:c.A523G:p.N175D,ALPK1:NM_025144:exon6:c.A523G:p.N175D 0.051 0.053 0.068 0.002 0.12 0.018 0.0769 0.0750 0.0520 0.0003 0.1014 0.1033 0.0892 0.0182 0.099 0.074 0.11 0.043 0.082 rs6533616 COSM3736330 2(skin);1(large_intestine) . . . . . . . . . . . 0.068 0.357 T 0.007 0.131 B 0.009 0.133 B 0.009 0.304 N 0.983 0.249 P 1.445 0.365 L 1.55 0.299 T -1.22 0.316 N 0.052 0.196 -1.071 0.091 T 0.001 0.003 T . . . 1.993 0.300 16.16 0.988 0.457 0.495 0.282 N c -0.485 -0.372 0.062 0.153 0.638 0.428 0 3.16 0.353 1.208 0.317 1.088 0.866 0.458 0.264 0.991 0.552 5.558 0.163 . ENSG00000073331.13|ENSG00000138658.11|ENSG00000073331.13|ENSG00000138658.11|ENSG00000073331.13|ENSG00000138658.11|ENSG00000073331.13|ENSG00000073331.13|ENSG00000073331.13 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0771 0.0725 0.0543 0.0997 0.0005 0.0974 0.1061 0.0864 0.0186 0.0876 0.0710 0.0632 0.1026 0 0.0880 0.1078 0.0876 het 807.89 68 4 113345147 . A G 807.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.533;DP=68;Dels=0.00;FS=3.466;HRun=0;HaplotypeScore=1.9155;MQ=59.11;MQ0=0;MQRankSum=-0.374;QD=11.88;ReadPosRankSum=-1.490;VQSLOD=6.0092;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,34:68:99:838,0,833 4 113352397 113352397 G A exonic ALPK1 nonsynonymous SNV ALPK1:NM_001253884:exon10:c.G1460A:p.G487D,ALPK1:NM_001102406:exon11:c.G1694A:p.G565D,ALPK1:NM_025144:exon11:c.G1694A:p.G565D 0.63 0.72 0.56 0.64 0.62 0.55 0.6220 0.7041 0.5300 0.6508 0.6531 0.6372 0.6189 0.5463 0.65 0.7 0.63 0.66 0.68 rs2074388 . . . . . . . . . . . . . 0.042 0.433 D 0.996 0.670 D 0.801 0.564 P 0.424 0.128 N 1 0.090 P 2.28 0.651 M 4.31 0.024 T -0.44 0.166 N 0.474 0.524 -1.097 0.044 T 0.000 0.000 T . . . 0.234 0.116 5.038 0.991 0.527 0.090 0.147 N c -0.306 -0.522 0.004 0.102 0.693 0.558 0 1.76 0.237 0.750 0.258 0.953 0.551 0.005 0.169 0.026 0.142 7.727 0.278 . ENSG00000249509.1 Testis 0.6155 0.7048 0.5364 0.6406 0.6473 0.6503 0.6316 0.6021 0.5501 0.6637 0.7101 0.5829 0.6291 0.6543 0.6319 0.6512 0.6513 hom 4971.17 163 4 113352397 . G A 4971.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.647;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8637;MQ=59.17;MQ0=0;MQRankSum=1.562;QD=30.50;ReadPosRankSum=1.668;VQSLOD=8.5444;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,162:163:99:4971,397,0 4 113352628 113352628 A G exonic ALPK1 nonsynonymous SNV ALPK1:NM_001253884:exon10:c.A1691G:p.H564R,ALPK1:NM_001102406:exon11:c.A1925G:p.H642R,ALPK1:NM_025144:exon11:c.A1925G:p.H642R 0.66 0.75 0.58 0.7 0.65 0.56 0.6495 0.7280 0.5520 0.7159 0.6889 0.6639 0.6586 0.5594 0.68 0.73 0.66 0.69 0.7 rs13148353 . . . . . . . . . . . . . 0.217 0.203 T 0.0 0.026 B 0.0 0.013 B 0.008 0.313 N 1 0.090 P 0 0.065 N 4.34 0.024 T 0.48 0.034 N 0.016 0.003 -1.094 0.050 T 0.000 0.000 T . . . -0.322 0.067 0.591 0.599 0.062 0.026 0.071 N c -1.317 -1.267 0.022 0.134 0.693 0.558 0 2.53 0.295 0.270 0.182 -1.444 0.011 0.003 0.159 0.005 0.090 3.992 0.090 . ENSG00000138658.11|ENSG00000249509.1 Artery_Tibial|Testis 0.6443 0.7285 0.5581 0.7049 0.7107 0.6867 0.6568 0.6423 0.5643 0.6921 0.7342 0.5995 0.7086 0.7243 0.6727 0.6738 0.6878 hom 4190.03 141 4 113352628 . A G 4190.03 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7172;MQ=59.44;MQ0=0;QD=29.72;VQSLOD=9.0183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4189,343,0 4 113352899 113352899 G A exonic ALPK1 nonsynonymous SNV ALPK1:NM_001253884:exon10:c.G1962A:p.M654I,ALPK1:NM_001102406:exon11:c.G2196A:p.M732I,ALPK1:NM_025144:exon11:c.G2196A:p.M732I 0.63 0.72 0.56 0.64 0.62 0.55 0.6225 0.7049 0.5302 0.6528 0.6531 0.6373 0.6222 0.5474 0.65 0.7 0.63 0.66 0.67 rs2074379 . . . . . . . . . . . . . 0.302 0.146 T 0.0 0.026 B 0.002 0.063 B 0.769 0.096 N 1 0.090 P 0.69 0.170 N 4.41 0.022 T -0.09 0.088 N 0.065 0.051 -1.057 0.126 T 0.000 0.000 T . . . -0.350 0.065 0.510 0.491 0.041 0.106 0.159 N c -1.002 -0.947 0.013 0.124 0.638 0.428 0 3.31 0.369 0.207 0.171 0.067 0.174 0.000 0.063 0.006 0.095 10.926 0.462 . ENSG00000249509.1 Testis 0.6158 0.7049 0.5366 0.6406 0.6493 0.6504 0.6316 0.6021 0.5511 0.6639 0.7105 0.5835 0.6291 0.6569 0.6319 0.6511 0.6497 hom 3757.40 122 4 113352899 . G A 3757.40 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;QD=30.80;VQSLOD=9.4311;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3757,292,0 4 113353052 113353052 C T exonic ALPK1 synonymous SNV ALPK1:NM_001253884:exon10:c.C2115T:p.S705S,ALPK1:NM_001102406:exon11:c.C2349T:p.S783S,ALPK1:NM_025144:exon11:c.C2349T:p.S783S 0.049 0.02 0.075 0.001 0.15 0.017 0.0923 0.0375 0.0563 0.0004 0.1532 0.1304 0.1128 0.0206 0.1 0.039 0.14 0.022 0.09 rs17044681 COSM3760341 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0941 0.0357 0.0591 0.1073 0.0006 0.1517 0.1343 0.1036 0.0215 0.1032 0.0440 0.0692 0.1093 0 0.1375 0.1414 0.1202 het 2012.97 137 4 113353052 . C T 2012.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.737;DP=137;Dels=0.00;FS=5.201;HRun=1;HaplotypeScore=7.9674;MQ=59.19;MQ0=0;MQRankSum=-0.978;QD=14.69;ReadPosRankSum=0.026;VQSLOD=3.9360;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:64,73:137:99:2043,0,1557 4 113353285 113353285 T C exonic ALPK1 nonsynonymous SNV ALPK1:NM_001253884:exon10:c.T2348C:p.M783T,ALPK1:NM_001102406:exon11:c.T2582C:p.M861T,ALPK1:NM_025144:exon11:c.T2582C:p.M861T 0.66 0.75 0.58 0.7 0.65 0.56 0.6497 0.7285 0.5523 0.7143 0.6889 0.6642 0.6586 0.5598 0.68 0.73 0.66 0.69 0.66 rs11726117 COSM4158751 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.139 0.183 N 1 0.090 P -2.075 0.002 N 4.37 0.023 T 0.55 0.027 N 0.037 0.017 -1.047 0.151 T 0.000 0.000 T . . . -1.013 0.031 0.015 0.163 0.004 0.003 0.017 N c -1.697 -1.579 0.003 0.101 0.693 0.558 0 1.74 0.235 -1.336 0.027 -0.417 0.060 0.000 0.063 0.025 0.141 4.870 0.129 . ENSG00000138658.11|ENSG00000249509.1 Artery_Tibial|Testis 0.6444 0.7288 0.5581 0.7047 0.7106 0.6864 0.6569 0.6420 0.5649 0.6925 0.7354 0.5990 0.7086 0.7243 0.6723 0.6741 0.6878 hom 4410.41 134 4 113353285 . T C 4410.41 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.83;MQ0=0;QD=32.91;VQSLOD=9.3617;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4410,358,0 4 113359703 113359703 A G exonic ALPK1 synonymous SNV ALPK1:NM_001253884:exon12:c.A3018G:p.R1006R,ALPK1:NM_001102406:exon13:c.A3252G:p.R1084R,ALPK1:NM_025144:exon13:c.A3252G:p.R1084R 0.66 0.75 0.57 0.7 0.66 0.57 0.6553 0.7302 0.5515 0.7173 0.7126 0.6693 0.6663 0.5681 0.68 0.73 0.66 0.7 0.71 rs231247 COSM4158752 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6498 0.7308 0.5582 0.7105 0.7119 0.7077 0.6610 0.6467 0.5733 0.6995 0.7360 0.5969 0.7119 0.7259 0.7012 0.6806 0.7 hom 3427.69 106 4 113359703 . A G 3427.69 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7046;MQ=58.84;MQ0=0;QD=32.34;VQSLOD=9.5539;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3427,259,0 4 113436044 113436044 T G exonic NEUROG2 synonymous SNV NEUROG2:NM_024019:exon2:c.A588C:p.G196G 0.96 1. 0.93 1. 0.86 0.98 0.9002 0.9796 0.9473 0.9989 0.8230 0.8564 0.8819 0.9639 0.9 0.98 0.86 0.8 0.25 rs901474 COSM3749850 1(thyroid);8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8964 0.9796 0.9408 0.8181 0.9994 0.8205 0.8585 0.8863 0.9618 0.8973 0.9759 0.9330 0.83 0.9981 0.8253 0.8590 0.8661 het 131.68 18 4 113436044 . T G 131.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.910;DP=18;Dels=0.00;FS=4.393;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.311;QD=7.32;ReadPosRankSum=0.400;VQSLOD=4.9953;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:162,0,320 4 115544714 115544714 A G exonic UGT8 synonymous SNV UGT8:NM_003360:exon1:c.A678G:p.P226P,UGT8:NM_001128174:exon2:c.A678G:p.P226P,UGT8:NM_001322113:exon2:c.A678G:p.P226P,UGT8:NM_001322114:exon2:c.A678G:p.P226P,UGT8:NM_001322112:exon3:c.A678G:p.P226P 0.98 0.94 0.99 1. 1. 1. 0.9927 0.9270 0.9954 0.9997 1 0.9990 0.9978 0.9999 0.97 0.93 1. 0.86 1. rs6851610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9939 0.9237 0.9953 0.9907 0.9998 1 0.9995 0.9954 0.9998 0.9773 0.9219 0.9940 0.9901 1 1 0.9995 0.9919 hom 4164.34 136 4 115544714 . A G 4164.34 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6221;MQ=58.94;MQ0=0;QD=30.62;VQSLOD=9.2423;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4164,346,0 4 115589302 115589302 A G exonic UGT8 nonsynonymous SNV UGT8:NM_003360:exon4:c.A1104G:p.I368M,UGT8:NM_001128174:exon5:c.A1104G:p.I368M,UGT8:NM_001322113:exon5:c.A1104G:p.I368M,UGT8:NM_001322114:exon5:c.A1104G:p.I368M,UGT8:NM_001322112:exon6:c.A1104G:p.I368M 0.99 0.96 1. 1. 1. 1. 0.9958 0.9554 0.9965 1 1 0.9999 0.9989 1 0.98 0.95 1. 0.98 1. rs11098261 . . . . . . . . . . . . . 0.267 0.162 T 0.007 0.131 B 0.064 0.257 B 0.000 0.843 N 1.000 0.198 P 0.82 0.209 L -0.33 0.683 T -1.86 0.435 N 0.192 0.260 -1.040 0.172 T 0.000 0.000 T . . . 0.592 0.151 8.103 0.809 0.129 0.070 0.129 N c -0.476 -0.368 0.001 0.077 0.706 0.609 0 1.96 0.251 5.763 0.682 0.136 0.221 1.000 0.715 0.999 0.750 7.590 0.270 . . . 0.9965 0.9526 0.9968 0.9992 1 1 0.9999 0.9971 0.9999 0.9873 0.9563 0.9964 1 1 1 0.9997 0.9959 hom 4713.16 149 4 115589302 . A G 4713.16 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6588;MQ=59.03;MQ0=0;QD=31.63;VQSLOD=9.5111;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4713,355,0 4 119161795 119161795 G A exonic NDST3 synonymous SNV NDST3:NM_004784:exon11:c.G2235A:p.P745P 0.25 0.045 0.36 0.21 0.37 0.36 0.3500 0.0806 0.4388 0.2116 0.2883 0.4002 0.3568 0.3522 0.3 0.095 0.4 0.13 0.32 rs617430 COSM1131293 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3556 0.0772 0.4338 0.3992 0.2121 0.2945 0.3998 0.3694 0.3573 0.2855 0.0922 0.4103 0.4040 0.2301 0.2867 0.3932 0.3055 hom 3903.01 133 4 119161795 . G A 3903.01 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.706;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1316;MQ=59.51;MQ0=0;MQRankSum=-1.548;QD=29.35;ReadPosRankSum=-0.472;VQSLOD=7.7772;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,131:133:99:3902,310,0 4 119736796 119736796 A C exonic SEC24D synonymous SNV SEC24D:NM_001318066:exon5:c.T483G:p.P161P,SEC24D:NM_014822:exon5:c.T483G:p.P161P 0.44 0.24 0.58 0.55 0.44 0.48 0.4624 0.2884 0.6094 0.5328 0.4749 0.4537 0.4504 0.4634 0.4 0.29 0.45 0.38 0.5 rs2389688 COSM1131292 2(haematopoietic_and_lymphoid_tissue);1(prostate);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4718 0.2812 0.6065 0.5450 0.5336 0.4726 0.4461 0.4754 0.4536 0.4121 0.2911 0.5372 0.5033 0.5509 0.4851 0.4376 0.4764 hom 2777.88 92 4 119736796 . A C 2777.88 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=30.19;VQSLOD=9.0094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2811,235,0 4 119944611 119944611 G T exonic SYNPO2 synonymous SNV SYNPO2:NM_001128933:exon2:c.G132T:p.G44G,SYNPO2:NM_001128934:exon2:c.G132T:p.G44G,SYNPO2:NM_001286754:exon2:c.G39T:p.G13G,SYNPO2:NM_001286755:exon2:c.G132T:p.G44G,SYNPO2:NM_133477:exon2:c.G132T:p.G44G 0.41 0.19 0.48 0.45 0.5 0.53 0.4661 0.2279 0.5107 0.4637 0.4649 0.4827 0.4680 0.5194 0.41 0.23 0.5 0.47 0.41 rs1459058 COSM3760353;COSM3760354;COSM3760352 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4704 0.2243 0.4989 0.3511 0.4586 0.4658 0.4943 0.46 0.5253 0.4185 0.2324 0.4713 0.3733 0.4658 0.4808 0.5023 0.4611 hom 1743.78 57 4 119944611 . G T 1743.78 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=30.59;VQSLOD=8.4151;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1777,150,0 4 119951647 119951647 A G exonic SYNPO2 nonsynonymous SNV SYNPO2:NM_001128933:exon4:c.A1717G:p.T573A,SYNPO2:NM_001128934:exon4:c.A1717G:p.T573A,SYNPO2:NM_001286754:exon4:c.A1624G:p.T542A,SYNPO2:NM_133477:exon4:c.A1717G:p.T573A 0.84 0.81 0.9 0.87 0.87 0.8 0.8485 0.8139 0.8634 0.8716 0.8161 0.8637 0.8355 0.7998 0.85 0.82 0.87 0.86 0.85 rs7698598 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.682 0.102 N 1 0.090 P -1.735 0.003 N 1.06 0.398 T 0.37 0.053 N 0.004 0.169 -1.021 0.233 T 0.000 0.000 T . . . -2.672 0.002 0.001 0.134 0.003 0.001 0.007 N c -1.296 -1.233 1.000 0.420 0.554 0.246 0 1.88 0.245 0.488 0.219 0.104 0.200 0.093 0.224 0.015 0.124 3.138 0.060 . . . 0.8525 0.8196 0.8710 0.8864 0.8766 0.8159 0.8657 0.8695 0.7997 0.8446 0.8165 0.8684 0.8742 0.8745 0.8113 0.8639 0.8378 hom 6680.03 202 4 119951647 . A G 6680.03 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.6988;MQ=59.31;MQ0=0;QD=33.07;VQSLOD=9.8557;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:6679,518,0 4 120214030 120214030 T G exonic USP53 nonsynonymous SNV USP53:NM_019050:exon18:c.T2886G:p.S962R 0.24 0.12 0.28 0.39 0.3 0.18 0.2760 0.1358 0.3041 0.3907 0.2673 0.3020 0.2722 0.1785 0.26 0.14 0.31 0.17 0.29 rs3749591 COSM149731 1(stomach);1(haematopoietic_and_lymphoid_tissue);4(prostate);1(large_intestine) . . . . . . . . . . . 0.035 0.437 D 0.501 0.353 P 0.08 0.274 B 0.767 0.096 N 1 0.090 P 2.25 0.640 M 0.83 0.478 T -1.01 0.266 N 0.06 0.059 -0.981 0.347 T 0.000 0.000 T . . . 1.279 0.218 12.16 0.988 0.462 0.111 0.163 N c -0.774 -0.858 0.946 0.277 0.719 0.830 0 -1.66 0.078 -0.171 0.098 -0.264 0.087 0.000 0.063 0.962 0.444 6.327 0.203 . ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000145384.3|ENSG00000260091.1|ENSG00000260404.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000249244.1|ENSG00000245958.2|ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000145384.3|ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000260091.1|ENSG00000260091.1|ENSG00000245958.2|ENSG00000249244.1|ENSG00000145384.3|ENSG00000260404.2|ENSG00000245958.2|ENSG00000249244.1|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000249244.1|ENSG00000260404.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000164096.10|ENSG00000260091.1|ENSG00000260404.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000164096.10|ENSG00000260091.1|ENSG00000260404.2|ENSG00000245958.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2803 0.1371 0.2963 0.2172 0.3884 0.2722 0.3152 0.2701 0.1747 0.2559 0.1354 0.2692 0.2152 0.3866 0.2696 0.3080 0.2678 het 1313.18 83 4 120214030 . T G 1313.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.329;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.72;MQ0=0;MQRankSum=-0.935;QD=15.82;ReadPosRankSum=-0.634;VQSLOD=6.0920;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,44:83:99:1343,0,995 4 120240238 120240238 T C exonic FABP2 synonymous SNV FABP2:NM_000134:exon4:c.A357G:p.V119V 0.33 0.4 0.33 0.39 0.31 0.2 0.3134 0.3865 0.3214 0.4037 0.2960 0.3160 0.3079 0.2114 0.34 0.38 0.33 0.17 0.27 rs1511025 COSM4002918 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3089 0.3839 0.3051 0.2126 0.3940 0.3016 0.3246 0.2984 0.2071 0.3336 0.3771 0.2798 0.1954 0.3883 0.2963 0.3190 0.2998 het 1082.28 101 4 120240238 . T C 1082.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.962;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7128;MQ=59.15;MQ0=0;MQRankSum=1.254;QD=10.72;ReadPosRankSum=0.161;VQSLOD=6.6197;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1112,0,1365 4 120241849 120241849 A G exonic FABP2 synonymous SNV FABP2:NM_000134:exon2:c.T216C:p.N72N 0.59 0.55 0.65 0.65 0.57 0.53 0.5679 0.5579 0.6707 0.6435 0.5176 0.5581 0.5817 0.5218 0.56 0.55 0.57 0.42 0.65 rs4834770 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5633 0.5482 0.6378 0.6342 0.6305 0.5080 0.5546 0.5734 0.5032 0.5562 0.5545 0.6259 0.5960 0.6363 0.5055 0.5568 0.5409 het 357.88 46 4 120241849 . A G 357.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.845;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.14;MQ0=0;MQRankSum=-0.068;QD=7.78;ReadPosRankSum=-0.319;VQSLOD=5.6666;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,17:46:99:388,0,662 4 120241902 120241902 T C exonic FABP2 nonsynonymous SNV FABP2:NM_000134:exon2:c.A163G:p.T55A 0.75 0.78 0.77 0.75 0.73 0.69 0.7261 0.7697 0.7499 0.7360 0.7286 0.7251 0.7291 0.6794 0.75 0.77 0.74 0.65 0.74 rs1799883 COSM4771472 1(haematopoietic_and_lymphoid_tissue);15(soft_tissue);1(pancreas);1(skin) Benign FATTY_ACID-BINDING_PROTEIN\x2c_INTESTINAL\x2c_POLYMORPHISM_OF RCV000017958.2 . . . . . . . . 0.032 0.446 D . . . . . . 0.185 0.170 N 1 0.090 P . . . 2.94 0.098 T -3.76 0.712 D 0.008 0.000 -1.094 0.049 T 0.000 0.000 T . . . 0.394 0.132 6.560 0.784 0.119 0.241 0.221 N c -0.654 -0.786 0.000 0.046 0.487 0.133 0 0.048 0.135 0.413 0.207 -0.205 0.101 0.101 0.226 0.101 0.189 9.506 0.380 Calycin|Calycin-like|Lipocalin/cytosolic fatty-acid binding domain ENSG00000245958.2|ENSG00000245958.2|ENSG00000145384.3|ENSG00000145384.3|ENSG00000245958.2|ENSG00000260091.1|ENSG00000164096.10|ENSG00000260404.2 Artery_Aorta|Cells_Transformed_fibroblasts|Colon_Transverse|Heart_Atrial_Appendage|Nerve_Tibial|Testis|Whole_Blood|Whole_Blood 0.7250 0.7698 0.7329 0.7418 0.7327 0.7215 0.7281 0.7282 0.6743 0.7361 0.7663 0.7309 0.7119 0.7246 0.7146 0.7270 0.7141 het 548.33 57 4 120241902 . T C 548.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.697;DP=57;Dels=0.00;FS=1.039;HRun=0;HaplotypeScore=3.8840;MQ=58.30;MQ0=0;MQRankSum=0.205;QD=9.62;ReadPosRankSum=0.664;VQSLOD=5.5626;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,22:57:99:578,0,892 4 120422407 120422407 T G exonic PDE5A nonsynonymous SNV PDE5A:NM_001083:exon20:c.A2408C:p.D803A,PDE5A:NM_033430:exon20:c.A2282C:p.D761A,PDE5A:NM_033437:exon20:c.A2252C:p.D751A . . . . . . 0.0010 0.0002 0 0 0.0002 0.0019 0 0 0.0006 . 0.0009 . . rs149385790 . . . . . . . . . . . . . 0.656 0.047 T 0.416 0.629 B 0.071 0.495 B 0.000 0.843 D 1 0.810 D 0.095 0.085 N -1.46 0.810 T -2.75 0.584 D 0.923 0.933 -0.937 0.431 T 0.140 0.460 T 0.104 0.779 D 4.743 0.636 24.7 0.988 0.464 0.995 0.965 D c 0.497 0.541 1.000 0.747 0.651 0.465 0 5.29 0.743 7.346 0.784 0.913 0.425 1.000 0.715 1.000 0.888 15.215 0.728 -cyclic nucleotide phosphodiesterase\x2c catalytic domain;-cyclic nucleotide phosphodiesterase\x2c catalytic domain|3'-cyclic nucleotide phosphodiesterase\x2c catalytic domain|HD/PDEase domain;3'5&apos . . 0.0008 0.0002 8.964e-05 0 0 0.0001 0.0016 0.0004 0 0.0006 0.0003 0 0 0 0 0.0010 0.0010 het 789.84 67 4 120422407 . T G 789.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.215;DP=67;Dels=0.00;FS=3.576;HRun=0;HaplotypeScore=0.8667;MQ=58.39;MQ0=0;MQRankSum=1.187;QD=11.79;ReadPosRankSum=-0.263;VQSLOD=3.9934;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,32:67:99:820,0,856 4 120474859 120474859 A G exonic PDE5A synonymous SNV PDE5A:NM_001083:exon8:c.T1242C:p.Y414Y,PDE5A:NM_033430:exon8:c.T1116C:p.Y372Y,PDE5A:NM_033437:exon8:c.T1086C:p.Y362Y 0.27 0.21 0.29 0.39 0.29 0.17 0.2656 0.2085 0.2981 0.3900 0.2571 0.2773 0.2721 0.1699 0.26 0.21 0.29 0.17 0.25 rs11947234 COSM4002921;COSM4002922 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2669 0.2067 0.2845 0.2046 0.3843 0.2612 0.2875 0.2511 0.1647 0.2614 0.2045 0.2530 0.1987 0.3814 0.2610 0.2833 0.2633 het 1267.63 136 4 120474859 . A G 1267.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.528;DP=136;Dels=0.00;FS=1.431;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=-0.554;QD=9.32;ReadPosRankSum=0.062;VQSLOD=5.9201;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,55:136:99:1298,0,1994 4 120528327 120528327 G A exonic PDE5A nonsynonymous SNV PDE5A:NM_001083:exon2:c.C278T:p.A93V,PDE5A:NM_033430:exon2:c.C152T:p.A51V,PDE5A:NM_033437:exon2:c.C122T:p.A41V 0.81 0.7 0.86 0.9 0.81 0.84 0.8226 0.6969 0.9106 0.8952 0.7564 0.8204 0.8282 0.8371 0.78 0.7 0.82 0.76 0.86 rs3733526 . . . . . . . . . . . . . 0.209 0.197 T 0.0 0.026 B 0.0 0.063 B 0.752 0.097 N 1 0.090 P 1.185 0.302 L 3.06 0.087 T -1.15 0.340 N 0.026 0.137 -1.054 0.133 T 0.000 0.000 T . . . 1.098 0.200 11.21 0.989 0.487 0.698 0.341 D c -0.537 -0.434 0.997 0.352 0.706 0.609 0 2.84 0.321 1.004 0.292 1.048 0.713 0.723 0.286 0.967 0.454 5.266 0.148 . ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000245958.2|ENSG00000145390.7 Adipose_Subcutaneous|Artery_Coronary|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Whole_Blood 0.8268 0.6950 0.9026 0.8927 0.8942 0.7543 0.8181 0.8339 0.8331 0.7853 0.7055 0.8783 0.8841 0.9017 0.7584 0.8165 0.8112 hom 3869.67 124 4 120528327 . G A 3869.67 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8675;MQ=58.91;MQ0=0;QD=31.21;VQSLOD=9.5567;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,123:124:99:3869,322,0 4 121706201 121706201 A G exonic PRDM5 synonymous SNV PRDM5:NM_001300823:exon10:c.T1141C:p.L381L,PRDM5:NM_001300824:exon10:c.T1141C:p.L381L,PRDM5:NM_018699:exon11:c.T1234C:p.L412L 0.14 0.011 0.19 0.19 0.27 0.081 0.2115 0.0471 0.1631 0.2321 0.2278 0.2666 0.2230 0.1086 0.2 0.058 0.27 0.087 0.31 rs12499000 COSM149732 1(stomach);2(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign|Benign Corneal_fragility_keratoglobus\x2c_blue_sclerae_AND_joint_hypermobility|not_specified RCV000312661.1|RCV000428129.1 MedGen:OMIM:SNOMED_CT|MedGen C0268344:229200:31798004|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2166 0.0437 0.1674 0.3191 0.2303 0.2291 0.2702 0.2376 0.1085 0.2066 0.0556 0.1775 0.33 0.2366 0.2340 0.2830 0.2248 het 720.19 62 4 121706201 . A G 720.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.120;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.12;MQ0=0;MQRankSum=1.951;QD=11.62;ReadPosRankSum=0.275;VQSLOD=6.3234;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,30:62:99:750,0,746 4 121738049 121738049 T C exonic PRDM5 synonymous SNV PRDM5:NM_018699:exon6:c.A681G:p.L227L 0.28 0.21 0.39 0.36 0.32 0.15 0.2912 0.2116 0.3514 0.3917 0.2610 0.3082 0.3046 0.1888 0.28 0.21 0.32 0.25 0.38 rs343192 COSM3760359 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Corneal_fragility_keratoglobus\x2c_blue_sclerae_AND_joint_hypermobility|not_specified RCV000377607.1|RCV000436179.1 MedGen:OMIM:SNOMED_CT|MedGen C0268344:229200:31798004|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2987 0.2096 0.3465 0.4072 0.3835 0.2636 0.3102 0.3211 0.1885 0.2876 0.2167 0.3520 0.4106 0.3756 0.2616 0.3198 0.2806 het 4108.79 225 4 121738049 . T C 4108.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.895;DP=225;DS;Dels=0.00;FS=4.411;HRun=0;HaplotypeScore=12.2623;MQ=59.01;MQ0=0;MQRankSum=0.149;QD=18.26;ReadPosRankSum=-0.139;VQSLOD=2.8166;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,125:225:99:3548,0,2593 4 121957559 121957559 G A exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.C1567T:p.L523L 0.25 0.18 0.34 0.24 0.21 0.33 0.2477 0.1843 0.3861 0.2338 0.2050 0.2182 0.2467 0.3346 0.2 0.19 0.21 0.22 0.16 rs34766411 COSM4002923 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2525 0.1807 0.3739 0.2524 0.2313 0.2064 0.2156 0.2539 0.3347 0.2069 0.1848 0.3604 0.21 0.2519 0.2024 0.2054 0.2367 het 1438.95 92 4 121957559 . G A 1438.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.028;DP=92;Dels=0.00;FS=0.797;HRun=1;HaplotypeScore=0.9979;MQ=59.29;MQ0=0;MQRankSum=-0.284;QD=15.64;ReadPosRankSum=1.419;VQSLOD=6.2218;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,52:92:99:1469,0,1056 4 121957734 121957734 T C exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.A1392G:p.S464S 0.82 0.61 0.88 0.97 0.87 0.86 0.8669 0.6723 0.9242 0.9732 0.9164 0.8676 0.8623 0.8712 0.8 0.68 0.87 0.8 0.86 rs1397645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8729 0.6704 0.9219 0.8076 0.9703 0.9159 0.8692 0.8595 0.8709 0.8316 0.6771 0.8986 0.8311 0.9739 0.9224 0.8769 0.8969 hom 7959.23 246 4 121957734 . T C 7959.23 Mask AC=2;AF=1.00;AN=2;DP=246;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3225;MQ=58.69;MQ0=0;QD=32.35;VQSLOD=8.6473;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,244:246:99:7958,641,0 4 121958091 121958091 T G exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.A1035C:p.L345L 0.43 0.09 0.47 0.65 0.61 0.45 0.5472 0.1641 0.4953 0.6525 0.6538 0.6126 0.5498 0.4593 0.47 0.18 0.62 0.4 0.64 rs3733558 COSM1131290 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5531 0.1599 0.5030 0.5160 0.6530 0.6487 0.6175 0.5470 0.4577 0.4982 0.1743 0.4856 0.5867 0.6330 0.6581 0.6277 0.5943 het 2343.68 168 4 121958091 . T G 2343.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.170;DP=168;Dels=0.00;FS=2.737;HRun=0;HaplotypeScore=1.8888;MQ=58.86;MQ0=0;MQRankSum=1.141;QD=13.95;ReadPosRankSum=-1.007;VQSLOD=6.2133;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,83:168:99:2374,0,2395 4 121958187 121958187 A G exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.T939C:p.D313D 0.43 0.076 0.47 0.65 0.61 0.45 0.5454 0.1497 0.4935 0.6535 0.6467 0.6126 0.5497 0.4585 0.47 0.17 0.62 0.4 0.63 rs3822230 COSM1131289 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5514 0.1449 0.5016 0.5166 0.6531 0.6431 0.6174 0.5462 0.4572 0.4938 0.1594 0.4844 0.59 0.6342 0.6562 0.6273 0.5937 het 2626.18 208 4 121958187 . A G 2626.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.410;DP=208;Dels=0.00;FS=1.083;HRun=0;HaplotypeScore=6.7704;MQ=58.80;MQ0=0;MQRankSum=0.253;QD=12.63;ReadPosRankSum=-1.958;VQSLOD=4.4840;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,103:208:99:2656,0,2730 4 121958691 121958691 T C exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.A435G:p.L145L 0.23 0.1 0.34 0.24 0.2 0.33 0.2421 0.1176 0.3830 0.2342 0.2049 0.2177 0.2456 0.3344 0.18 0.11 0.21 0.16 0.16 rs3733559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2477 0.1152 0.3699 0.2512 0.2314 0.2063 0.2155 0.2490 0.3345 0.1867 0.1150 0.3621 0.2119 0.2546 0.2023 0.2046 0.2255 het 2330.51 159 4 121958691 . T C 2330.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.529;DP=159;Dels=0.00;FS=1.350;HRun=0;HaplotypeScore=6.6795;MQ=59.06;MQ0=0;MQRankSum=-0.557;QD=14.66;ReadPosRankSum=-0.271;VQSLOD=4.0260;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,83:159:99:2361,0,2028 4 121958697 121958697 G A exonic NDNF synonymous SNV NDNF:NM_024574:exon4:c.C429T:p.S143S 0.4 0.076 0.44 0.6 0.57 0.43 0.5152 0.1457 0.4588 0.5879 0.6143 0.5796 0.52 0.4363 0.45 0.16 0.59 0.4 0.61 rs3733560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5197 0.1407 0.4689 0.4759 0.5892 0.6102 0.5857 0.5111 0.4355 0.4655 0.1537 0.4498 0.54 0.5698 0.6201 0.5928 0.5540 het 2099.68 163 4 121958697 . G A 2099.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.192;DP=163;Dels=0.00;FS=0.629;HRun=0;HaplotypeScore=7.1585;MQ=59.23;MQ0=0;MQRankSum=0.184;QD=12.88;ReadPosRankSum=0.417;VQSLOD=4.9622;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,77:163:99:2130,0,2338 4 121966807 121966807 C T exonic NDNF synonymous SNV NDNF:NM_024574:exon2:c.G186A:p.K62K 0.66 0.2 0.81 0.88 0.82 0.78 0.7904 0.2904 0.8758 0.8848 0.8515 0.8301 0.7991 0.7925 0.67 0.31 0.83 0.56 0.68 rs2276959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8004 0.2829 0.8723 0.7684 0.8840 0.8493 0.8325 0.7962 0.7915 0.6878 0.2992 0.8449 0.8013 0.8894 0.8589 0.8326 0.8204 hom 1678.59 56 4 121966807 . C T 1678.59 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=29.97;VQSLOD=8.6297;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1712,129,0 4 122683007 122683007 G A exonic TMEM155 nonsynonymous SNV TMEM155:NM_001317837:exon4:c.C32T:p.A11V,TMEM155:NM_001317838:exon4:c.C32T:p.A11V,TMEM155:NM_001317839:exon4:c.C32T:p.A11V,TMEM155:NM_152399:exon4:c.C32T:p.A11V 0.89 0.93 0.89 0.88 0.83 0.89 0.8685 0.9220 0.9189 0.8788 0.8627 0.8447 0.8722 0.8922 0.87 0.92 0.85 0.85 0.89 rs4370153 COSM4965427 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.008 0.012 N 1 0.090 P -0.55 0.024 N 0.54 0.573 T 3.32 0.001 N 0.429 0.485 -0.906 0.474 T 0.000 0.000 T . . . -0.578 0.051 0.142 0.544 0.050 0.011 0.041 N c -1.394 -1.403 0.997 0.353 0.516 0.203 0 -3.35 0.046 -0.190 0.095 0.244 0.267 0.000 0.063 0.036 0.153 2.881 0.053 . ENSG00000164112.8 Heart_Left_Ventricle 0.8702 0.9253 0.9190 0.8726 0.8800 0.8552 0.8444 0.8657 0.8896 0.8814 0.9233 0.9057 0.8874 0.8870 0.8674 0.8583 0.8788 hom 2810.44 99 4 122683007 . G A 2810.44 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=28.39;VQSLOD=8.8362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2843,223,0 4 122742217 122742217 T C exonic CCNA2 nonsynonymous SNV CCNA2:NM_001237:exon3:c.A487G:p.I163V 0.97 0.99 0.98 0.95 0.95 0.97 0.9629 0.9898 0.9815 0.9411 0.9425 0.9578 0.9758 0.9727 0.97 0.99 0.96 0.95 1. rs769242 COSM5425608 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.192 0.168 N 1 0.090 P -2.175 0.001 N 2.65 0.127 T 0.42 0.034 N 0.042 0.022 -0.995 0.313 T 0.000 0.000 T . . . 0.665 0.157 8.596 0.899 0.186 0.218 0.213 N c -0.832 -0.577 1.000 0.517 0.757 0.989 0 4.14 0.477 0.842 0.271 0.040 0.155 0.888 0.309 0.999 0.750 8.623 0.329 Cyclin-A\x2c N-terminal . . 0.9625 0.9909 0.9800 0.9739 0.9399 0.9387 0.9575 0.9710 0.9719 0.9672 0.9913 0.9760 0.9901 0.9382 0.9453 0.9605 0.9664 hom 6226.59 212 4 122742217 . T C 6226.59 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4572;MQ=58.23;MQ0=1;QD=29.37;VQSLOD=7.2202;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6226,463,0 4 123150286 123150286 T C exonic KIAA1109 nonsynonymous SNV KIAA1109:NM_015312:exon23:c.T2933C:p.I978T 0.035 0.029 0.068 . 0.084 0.0051 0.0593 0.0348 0.0572 0.0021 0.0239 0.0853 0.0670 0.0136 0.075 0.04 0.091 0.033 0.09 rs6848868 . . . . . . . . . . . . . 0.187 0.334 T 0.005 0.119 B 0.01 0.139 B 0.364 0.043 N 0.695 0.316 P 0.69 0.170 N 0.79 0.491 T -0.25 0.465 N 0.182 0.222 -1.080 0.073 T 0.004 0.014 T . . . 1.685 0.264 14.32 0.944 0.243 0.984 0.820 D c -0.161 0.067 0.362 0.198 0.732 0.924 0 5.33 0.756 5.558 0.668 1.061 0.807 1.000 0.715 1.000 0.888 8.009 0.293 . . . 0.0596 0.0341 0.0571 0.1446 0.0003 0.0228 0.0838 0.0833 0.0132 0.0506 0.0330 0.0609 0.1291 0 0.0198 0.0720 0.0399 het 2986.44 194 4 123150286 . T C 2986.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.519;DP=194;Dels=0.00;FS=5.309;HRun=0;HaplotypeScore=1.9445;MQ=59.26;MQ0=0;MQRankSum=-0.612;QD=15.39;ReadPosRankSum=-1.853;VQSLOD=4.6755;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,115:194:99:3016,0,1950 4 123171659 123171659 T A exonic KIAA1109 nonsynonymous SNV KIAA1109:NM_015312:exon35:c.T5853A:p.D1951E 0.011 0.0023 0.023 . 0.029 0.0082 0.0235 0.0060 0.0118 0.0003 0.0534 0.0315 0.0456 0.0084 0.025 0.0066 0.033 0.011 . rs56363411 . . . . . . . . . . . . . 0.849 0.027 T 0.005 0.119 B 0.007 0.121 B 0.005 0.334 U 0.581 0.311 N 0.46 0.130 N 2.31 0.168 T -0.05 0.078 N 0.095 0.095 -0.999 0.302 T 0.032 0.139 T . . . 1.401 0.232 12.79 0.918 0.205 0.821 0.411 D c -0.096 -0.084 0.002 0.086 0.732 0.924 0 0.014 0.134 0.023 0.133 1.061 0.807 0.967 0.338 1.000 0.888 1.477 0.023 . . . 0.0248 0.0054 0.0130 0.0122 0.0004 0.0548 0.0338 0.0276 0.0097 0.0257 0.0060 0.0107 0.0166 0.0012 0.0498 0.0354 0.0237 het 992.36 84 4 123171659 . T A 992.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.439;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1515;MQ=59.11;MQ0=0;MQRankSum=0.018;QD=11.81;ReadPosRankSum=0.814;VQSLOD=5.8017;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,41:84:99:1022,0,1053 4 123207867 123207867 T G exonic KIAA1109 nonsynonymous SNV KIAA1109:NM_015312:exon51:c.T9209G:p.V3070G 0.0002 . . . . 0.001 0.0014 0.0009 0.0003 0.0001 0.0018 0.0020 0.0022 0.0008 0.001 0.0008 0.0011 . . rs79067453 . . . . . . . . . . . . . 0.337 0.128 T 0.0 0.026 B 0.001 0.040 B 0.004 0.341 N 1.000 0.548 D -0.14 0.045 N 2.55 0.138 T -0.03 0.075 N 0.269 0.510 -1.032 0.199 T 0.026 0.113 T 0.004 0.084 T 1.725 0.268 14.55 0.980 0.367 0.862 0.451 D c -0.260 -0.004 0.975 0.295 0.707 0.730 0 5.48 0.806 3.827 0.552 1.061 0.807 1.000 0.715 1.000 0.888 15.571 0.760 . . . 0.0013 0.0007 0.0005 0.0001 0 0.0013 0.0021 0.0013 0.0008 0.0013 0.0003 0.0012 0 0 0.0011 0.002 0.0010 het 1853.21 130 4 123207867 . T G 1853.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.955;DP=130;Dels=0.00;FS=0.701;HRun=2;HaplotypeScore=1.9861;MQ=59.21;MQ0=0;MQRankSum=0.530;QD=14.26;ReadPosRankSum=-1.623;VQSLOD=5.5426;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,73:130:99:1883,0,1504 4 123280860 123280860 T C exonic KIAA1109 synonymous SNV KIAA1109:NM_015312:exon83:c.T14784C:p.H4928H 0.12 0.0068 0.13 0.12 0.24 0.15 0.1913 0.0351 0.0907 0.1388 0.3579 0.2328 0.2020 0.1469 0.16 0.038 0.22 0.087 0.18 rs1127348 COSM1426709 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1927 0.0325 0.0978 0.1855 0.1364 0.3635 0.2319 0.2007 0.1439 0.1886 0.0419 0.1280 0.1667 0.1253 0.3610 0.2401 0.2541 het 1083.78 101 4 123280860 . T C 1083.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.483;DP=101;Dels=0.00;FS=0.756;HRun=1;HaplotypeScore=2.6487;MQ=58.33;MQ0=0;MQRankSum=0.263;QD=10.73;ReadPosRankSum=0.065;VQSLOD=6.0362;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1114,0,1413 4 123377482 123377482 C A exonic IL2 synonymous SNV IL2:NM_000586:exon1:c.G114T:p.L38L 0.3 0.077 0.44 0.46 0.34 0.29 0.3461 0.1184 0.5114 0.4727 0.4736 0.3416 0.3296 0.2783 0.26 0.13 0.32 0.29 0.2 rs2069763 COSM5432718 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3569 0.1104 0.5015 0.2189 0.4754 0.4749 0.3423 0.3412 0.2710 0.3068 0.1142 0.4159 0.2086 0.4793 0.4733 0.3533 0.3776 het 236.53 32 4 123377482 . C A 236.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.55;MQ0=0;MQRankSum=1.109;QD=7.39;ReadPosRankSum=1.265;VQSLOD=5.5161;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:267,0,559 4 123536963 123536963 G A exonic IL21 synonymous SNV IL21:NM_001207006:exon3:c.C234T:p.C78C,IL21:NM_021803:exon3:c.C234T:p.C78C 0.84 0.95 0.82 0.89 0.66 0.84 0.7434 0.9255 0.8643 0.8831 0.5546 0.6715 0.7059 0.8385 0.77 0.92 0.69 0.87 0.72 rs4833837 COSM4407011 1(liver) Benign not_specified RCV000454435.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7428 0.9292 0.8580 0.7372 0.8869 0.5502 0.6734 0.7153 0.8414 0.7450 0.9218 0.8174 0.7848 0.8926 0.5613 0.6693 0.6653 het 1302.87 120 4 123536963 . G A 1302.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.875;DP=120;Dels=0.00;FS=1.504;HRun=3;HaplotypeScore=0.9958;MQ=59.25;MQ0=0;MQRankSum=-0.264;QD=10.86;ReadPosRankSum=-0.243;VQSLOD=6.7791;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,53:120:99:1333,0,1734 4 123838758 123838758 A G exonic NUDT6 nonsynonymous SNV NUDT6:NM_007083:exon2:c.T340C:p.C114R 0.61 0.2 0.64 0.94 0.74 0.65 0.6978 0.2748 0.6778 0.9502 0.7962 0.7286 0.7344 0.6656 0.61 0.33 0.74 0.49 0.72 rs12648093 COSM1131278 2(pancreas);1(prostate) . . . . . . . . . . . 0.518 0.073 T 0.0 0.026 B 0.001 0.040 B 0.336 0.042 N 0.590 0.310 P 0.905 0.233 L 1.44 0.327 T 0.84 0.018 N 0.06 0.044 -1.023 0.227 T 0.000 0.000 T . . . -1.854 0.010 0.002 0.237 0.010 0.033 0.082 N c -1.735 -1.792 1.000 0.747 0.706 0.609 0 -7.93 0.010 -0.918 0.041 -0.138 0.110 0.000 0.063 0.821 0.343 2.820 0.051 NUDIX hydrolase domain-like . . 0.7069 0.2695 0.6896 0.6706 0.9510 0.7905 0.7337 0.6915 0.6631 0.6296 0.2777 0.6766 0.6126 0.9574 0.7901 0.7516 0.7423 hom 4513.82 138 4 123838758 . A G 4513.82 Mask AC=2;AF=1.00;AN=2;DP=138;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.23;MQ0=0;QD=32.71;VQSLOD=9.9950;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4513,364,0 4 123843716 123843716 T C exonic NUDT6 synonymous SNV NUDT6:NM_007083:exon1:c.A12G:p.P4P 0.74 0.34 0.77 0.95 0.89 0.9 0.8534 0.4129 0.7994 0.9574 0.9031 0.8891 0.8817 0.8951 0.76 0.45 0.9 0.61 0.71 rs13134412 COSM1753522 2(urinary_tract);1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8545 0.4021 0.8111 0.8552 0.9599 0.9031 0.8926 0.8580 0.8939 0.7609 0.4070 0.8010 0.8113 0.9617 0.9052 0.9001 0.8765 hom 1098.48 39 4 123843716 . T C 1098.48 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=28.17;VQSLOD=8.3893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:93.25:1131,93,0 4 123949556 123949556 G A exonic SPATA5 synonymous SNV SPATA5:NM_001317799:exon11:c.G2082A:p.G694G 0.88 0.76 0.84 0.95 0.95 0.92 0.9167 0.7906 0.8384 0.9620 0.9270 0.9445 0.9185 0.9105 0.9 0.79 0.95 0.87 0.89 rs1472949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9173 0.7886 0.8502 0.9150 0.9627 0.9267 0.9485 0.9112 0.9110 0.8994 0.7917 0.8493 0.9040 0.9642 0.9334 0.9481 0.9236 hom 1769.26 59 4 123949556 . G A 1769.26 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.99;VQSLOD=13.8345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1802,144,0 4 125590478 125590478 T C exonic ANKRD50 synonymous SNV ANKRD50:NM_001167882:exon3:c.A3417G:p.P1139P,ANKRD50:NM_020337:exon4:c.A3954G:p.P1318P 0.21 0.23 0.18 0.24 0.16 0.24 0.1849 0.2210 0.1875 0.2398 0.2297 0.1566 0.1762 0.2288 0.17 0.22 0.15 0.16 0.12 rs1874748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1843 0.2194 0.1894 0.0928 0.2406 0.2325 0.1569 0.1564 0.2282 0.1882 0.2170 0.1842 0.0861 0.2162 0.2175 0.1642 0.1837 het 1896.23 173 4 125590478 . T C 1896.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.114;DP=173;Dels=0.00;FS=4.604;HRun=0;HaplotypeScore=10.2124;MQ=58.49;MQ0=0;MQRankSum=1.320;QD=10.96;ReadPosRankSum=2.057;VQSLOD=3.4084;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,80:173:99:1926,0,2309 4 125591423 125591423 A T exonic ANKRD50 synonymous SNV ANKRD50:NM_001167882:exon3:c.T2472A:p.A824A,ANKRD50:NM_020337:exon4:c.T3009A:p.A1003A 0.044 0.02 0.036 0.013 0.092 0.062 0.0613 0.0265 0.0301 0.0062 0.0952 0.0765 0.0540 0.0595 0.061 0.029 0.077 0.022 0.098 rs3822116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0609 0.0263 0.0346 0.0579 0.0057 0.0936 0.0768 0.0559 0.0584 0.0604 0.0267 0.0358 0.0563 0.0038 0.0876 0.0806 0.0703 het 2136.67 128 4 125591423 . A T 2136.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.963;DP=128;Dels=0.00;FS=5.664;HRun=0;HaplotypeScore=1.9929;MQ=59.46;MQ0=0;MQRankSum=-0.948;QD=16.69;ReadPosRankSum=2.037;VQSLOD=4.5553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,75:128:99:2167,0,1514 4 125591687 125591687 A G exonic ANKRD50 synonymous SNV ANKRD50:NM_001167882:exon3:c.T2208C:p.N736N,ANKRD50:NM_020337:exon4:c.T2745C:p.N915N 0.29 0.39 0.22 0.26 0.21 0.29 0.2499 0.3690 0.2154 0.2685 0.2875 0.2232 0.2280 0.2830 0.26 0.36 0.21 0.26 0.18 rs3733471 COSM4158783 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2451 0.3675 0.2199 0.2019 0.2696 0.2848 0.2182 0.2218 0.2849 0.2641 0.3618 0.2254 0.2053 0.2443 0.2643 0.2137 0.2495 het 1250.07 112 4 125591687 . A G 1250.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.645;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.92;MQ0=0;MQRankSum=0.157;QD=11.16;ReadPosRankSum=-0.317;VQSLOD=6.6903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,50:112:99:1280,0,1565 4 125592065 125592065 C A exonic ANKRD50 synonymous SNV ANKRD50:NM_001167882:exon3:c.G1830T:p.A610A,ANKRD50:NM_020337:exon4:c.G2367T:p.A789A 0.29 0.39 0.22 0.26 0.21 0.29 0.2495 0.3689 0.2149 0.2681 0.2877 0.2228 0.2280 0.2829 0.26 0.36 0.21 0.25 0.18 rs10018651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2449 0.3675 0.2202 0.2019 0.2698 0.2845 0.2177 0.2217 0.2849 0.2629 0.3626 0.2267 0.2053 0.2439 0.2639 0.2111 0.2485 het 1319.63 110 4 125592065 . C A 1319.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.692;DP=110;Dels=0.00;FS=1.605;HRun=1;HaplotypeScore=1.6553;MQ=59.79;MQ0=0;MQRankSum=-0.161;QD=12.00;ReadPosRankSum=0.119;VQSLOD=6.7929;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1350,0,1611 4 126237971 126237971 C T exonic FAT4 synonymous SNV FAT4:NM_001291285:exon1:c.C405T:p.F135F,FAT4:NM_001291303:exon1:c.C405T:p.F135F,FAT4:NM_024582:exon1:c.C405T:p.F135F 0.13 0.07 0.14 0.098 0.22 0.15 0.1872 0.0884 0.1220 0.1182 0.2388 0.2212 0.2120 0.1679 0.17 0.087 0.22 0.11 0.25 rs72928772 COSM3760366;COSM3760367 2(large_intestine) Benign not_specified RCV000434582.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1855 0.0853 0.1233 0.2120 0.1172 0.2282 0.2229 0.1897 0.1663 0.1825 0.0882 0.1507 0.2219 0.1215 0.2390 0.2314 0.1892 het 811 51 4 126237971 . C T 811 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.732;DP=51;Dels=0.00;FS=5.913;HRun=4;HaplotypeScore=6.6128;MQ=59.14;MQ0=0;MQRankSum=0.994;QD=15.90;ReadPosRankSum=1.543;VQSLOD=3.5285;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,28:51:99:841,0,657 4 126238924 126238924 A T exonic FAT4 nonsynonymous SNV FAT4:NM_001291285:exon1:c.A1358T:p.Q453L,FAT4:NM_001291303:exon1:c.A1358T:p.Q453L,FAT4:NM_024582:exon1:c.A1358T:p.Q453L 0.43 0.61 0.41 0.24 0.42 0.38 0.4234 0.5721 0.3802 0.2497 0.3868 0.4415 0.4007 0.3989 0.47 0.55 0.43 0.37 0.53 rs6847454 COSM3760369;COSM3760368 1(oesophagus);2(large_intestine) Benign not_specified RCV000443191.1 MedGen CN169374 . . . . . . 0.33 0.131 T 0.002 0.090 B 0.009 0.133 B 0.980 0.078 U 1.000 0.090 P 0.28 0.100 N 0.61 0.535 T -0.31 0.121 N 0.069 0.058 -0.928 0.444 T 0.000 0.000 T . . . -0.880 0.037 0.029 0.824 0.137 0.269 0.229 N c -1.150 -1.167 1.000 0.747 0.598 0.340 0 -2.64 0.057 0.151 0.160 -0.614 0.043 0.051 0.212 0.004 0.083 7.174 0.248 Cadherin|Cadherin-like . . 0.4147 0.5730 0.3773 0.3667 0.2451 0.3861 0.4433 0.4043 0.4064 0.4610 0.5632 0.4141 0.3411 0.2528 0.4023 0.4462 0.4094 hom 2301.44 71 4 126238924 . A T 2301.44 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.28;MQ0=0;QD=32.41;VQSLOD=8.8055;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2334,187,0 4 126239986 126239986 C T exonic FAT4 nonsynonymous SNV FAT4:NM_001291285:exon1:c.C2420T:p.A807V,FAT4:NM_001291303:exon1:c.C2420T:p.A807V,FAT4:NM_024582:exon1:c.C2420T:p.A807V 0.42 0.61 0.41 0.23 0.42 0.39 0.4222 0.5710 0.3802 0.2359 0.3865 0.4412 0.3978 0.3995 0.46 0.54 0.43 0.37 0.55 rs1039808 COSM3760371;COSM3760370 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);2(large_intestine) Benign not_specified RCV000433556.1 MedGen CN169374 . . . . . . 0.202 0.202 T 0.575 0.368 P 0.253 0.374 B 0.004 0.340 U 0.042 0.380 P 0.84 0.212 L 4.63 0.019 T -1.64 0.393 N 0.09 0.088 -1.062 0.113 T 0.000 0.000 T . . . 4.056 0.545 23.7 0.998 0.923 0.888 0.486 D c 0.154 0.234 1.000 0.747 0.543 0.218 0 5.13 0.696 3.678 0.541 0.935 0.490 0.998 0.411 0.975 0.474 18.603 0.912 Cadherin|Cadherin-like . . 0.4137 0.5729 0.3772 0.3666 0.2299 0.3865 0.4432 0.4039 0.4070 0.4613 0.5648 0.4151 0.3411 0.2441 0.4030 0.4467 0.4092 hom 6580.33 215 4 126239986 . C T 6580.33 Mask AC=2;AF=1.00;AN=2;DP=215;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9924;MQ=59.14;MQ0=0;QD=30.61;VQSLOD=3.8768;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,213:215:99:6546,536,0 4 126240510 126240510 T C exonic FAT4 synonymous SNV FAT4:NM_001291285:exon1:c.T2944C:p.L982L,FAT4:NM_001291303:exon1:c.T2944C:p.L982L,FAT4:NM_024582:exon1:c.T2944C:p.L982L 0.72 0.93 0.73 0.46 0.71 0.72 0.7012 0.8861 0.7017 0.4739 0.5746 0.7040 0.68 0.7494 0.77 0.89 0.71 0.7 0.75 rs2940779 COSM5008351;COSM5008350 1(breast);2(large_intestine) Benign not_specified RCV000443502.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6944 0.8909 0.6993 0.7315 0.4693 0.5769 0.7051 0.6857 0.7523 0.7296 0.8901 0.7243 0.7285 0.4728 0.5910 0.7007 0.6646 hom 5074.70 156 4 126240510 . T C 5074.70 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=32.53;VQSLOD=9.2789;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:5074,391,0 4 126241871 126241871 C T exonic FAT4 synonymous SNV FAT4:NM_001291285:exon1:c.C4305T:p.I1435I,FAT4:NM_001291303:exon1:c.C4305T:p.I1435I,FAT4:NM_024582:exon1:c.C4305T:p.I1435I 0.71 0.9 0.73 0.45 0.71 0.72 0.6974 0.8591 0.7000 0.4581 0.5746 0.7039 0.6778 0.7486 0.75 0.86 0.71 0.65 0.75 rs2710555 COSM5008352;COSM5008353 2(large_intestine) Benign not_specified RCV000417585.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6909 0.8624 0.6976 0.7313 0.4540 0.5762 0.7051 0.6841 0.7515 0.7203 0.8596 0.7196 0.7285 0.4617 0.5917 0.7007 0.6612 hom 4730.54 144 4 126241871 . C T 4730.54 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2272;MQ=59.03;MQ0=0;QD=32.85;VQSLOD=9.0375;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4730,376,0 4 126329789 126329789 T C exonic FAT4 synonymous SNV FAT4:NM_001291285:exon4:c.T5760C:p.D1920D,FAT4:NM_001291303:exon4:c.T5760C:p.D1920D,FAT4:NM_024582:exon4:c.T5760C:p.D1920D 0.99 0.96 0.99 1. 1. 1. 0.9966 0.9721 0.9966 0.9999 1 0.9988 0.9945 0.9999 0.99 0.97 1. 0.99 0.95 rs958415 COSM1131273;COSM1131272 1(prostate) Benign not_specified RCV000436313.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9702 0.9950 0.9979 0.9999 1 0.9989 0.9947 0.9999 0.9917 0.9728 0.9952 1 1 1 0.9991 0.9959 hom 3490.81 107 4 126329789 . T C 3490.81 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3832;MQ=59.43;MQ0=0;QD=32.62;VQSLOD=9.1569;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:107:99:3490,283,0 4 126369872 126369872 G C exonic FAT4 synonymous SNV FAT4:NM_001291285:exon9:c.G7707C:p.V2569V,FAT4:NM_001291303:exon9:c.G7707C:p.V2569V,FAT4:NM_024582:exon9:c.G7701C:p.V2567V 0.99 0.97 1. 1. 1. 1. 0.9978 0.9755 0.9992 1 1 1.0000 0.9978 1 0.99 0.98 1. 0.99 1. rs988863 . . Benign not_specified RCV000442698.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9744 0.9991 1 1 1 1.0000 0.9993 1 0.9932 0.9763 0.9976 1 1 1 1 0.9980 hom 1665.79 52 4 126369872 . G C 1665.79 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.37;MQ0=0;QD=32.03;VQSLOD=7.9015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1699,132,0 4 126372742 126372742 G A exonic FAT4 nonsynonymous SNV FAT4:NM_001291285:exon9:c.G10577A:p.G3526D,FAT4:NM_001291303:exon9:c.G10577A:p.G3526D,FAT4:NM_024582:exon9:c.G10571A:p.G3524D 0.23 0.024 0.25 0.39 0.3 0.26 0.2673 0.0608 0.2477 0.4193 0.2418 0.2792 0.2907 0.2927 0.22 0.066 0.3 0.15 0.26 rs1567047 COSM4415581;COSM4415580 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) Benign not_specified RCV000427798.1 MedGen CN169374 . . . . . . 0.013 0.538 D 1.0 0.899 D 1.0 0.971 D 0.005 0.335 U 0.000 0.588 P 2.8 0.819 M 0.59 0.540 T -4.59 0.789 D 0.389 0.449 -1.086 0.062 T 0.000 0.000 T . . . 5.933 0.814 27.6 0.997 0.834 0.992 0.931 D c 0.893 0.865 1.000 0.747 0.707 0.730 0 5.77 0.910 9.799 0.982 1.048 0.713 1.000 0.715 0.424 0.258 19.998 0.974 Cadherin|Cadherin-like . . 0.2714 0.0586 0.2451 0.2673 0.4217 0.2425 0.2864 0.2599 0.2912 0.2253 0.0634 0.2752 0.2567 0.4149 0.2572 0.2882 0.2290 het 2171.42 169 4 126372742 . G A 2171.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.653;DP=169;Dels=0.00;FS=4.513;HRun=0;HaplotypeScore=5.0679;MQ=58.33;MQ0=0;MQRankSum=1.819;QD=12.85;ReadPosRankSum=-0.366;VQSLOD=4.7505;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,83:169:99:2201,0,2349 4 126373789 126373789 G A exonic FAT4 nonsynonymous SNV FAT4:NM_001291285:exon9:c.G11624A:p.S3875N,FAT4:NM_001291303:exon9:c.G11624A:p.S3875N,FAT4:NM_024582:exon9:c.G11618A:p.S3873N 0.99 0.97 1. 1. 1. 1. 0.9978 0.9756 0.9991 1 1 0.9999 0.9978 1 0.99 0.98 1. 0.99 0.98 rs12650153 . . Benign not_specified RCV000417654.1 MedGen CN169374 . . . . . . 0.671 0.045 T 0.0 0.026 B 0.0 0.013 B 0.003 0.363 N 1.000 0.090 P -2.215 0.001 N -2.26 0.874 D 1.3 0.010 N 0.048 0.029 -0.924 0.450 T 0.000 0.000 T . . . 1.631 0.257 14.02 0.253 0.012 0.156 0.188 N c -0.879 -0.508 0.994 0.335 0.707 0.730 0 5.27 0.737 7.194 0.771 0.108 0.203 1.000 0.715 0.994 0.587 11.139 0.474 Cadherin|Cadherin-like;EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain . . 0.9982 0.9745 0.9990 1 1 1 0.9999 0.9993 1 0.9931 0.9760 0.9976 1 1 1 1 0.9980 hom 1705.02 52 4 126373789 . G A 1705.02 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=59.11;MQ0=0;QD=32.79;VQSLOD=9.7406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1738,141,0 4 126412575 126412575 A G exonic FAT4 synonymous SNV FAT4:NM_001291285:exon17:c.A14601G:p.R4867R,FAT4:NM_001291303:exon17:c.A14604G:p.R4868R,FAT4:NM_024582:exon17:c.A14598G:p.R4866R 0.74 0.65 0.72 0.85 0.76 0.74 0.7569 0.6970 0.7117 0.8726 0.8095 0.7586 0.7898 0.7354 0.74 0.71 0.76 0.69 0.77 rs1014866 . . Benign not_specified RCV000439258.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7578 0.6910 0.7159 0.7644 0.8760 0.7983 0.7596 0.7564 0.7326 0.7566 0.7063 0.7321 0.7567 0.8694 0.7915 0.7663 0.7673 het 1544.53 132 4 126412575 . A G 1544.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.243;DP=132;Dels=0.00;FS=2.313;HRun=1;HaplotypeScore=4.8823;MQ=58.71;MQ0=0;MQRankSum=0.455;QD=11.70;ReadPosRankSum=0.459;VQSLOD=5.6011;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,60:132:99:1575,0,1942 4 126412891 126412891 C T exonic FAT4 nonsynonymous SNV FAT4:NM_001291285:exon17:c.C14917T:p.P4973S,FAT4:NM_001291303:exon17:c.C14920T:p.P4974S,FAT4:NM_024582:exon17:c.C14914T:p.P4972S 0.054 0.072 0.032 0.06 0.054 0.038 0.0543 0.0595 0.0352 0.0621 0.0345 0.0610 0.0541 0.0418 0.052 0.05 0.053 0.087 0.082 rs1014867 COSM4002932;COSM4002933 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000428726.1 MedGen CN169374 . . . . . . 0.348 0.124 T 0.001 0.067 B 0.002 0.063 B 0.330 0.141 U 1.000 0.205 P 0.11 0.085 N -0.69 0.742 T -1.18 0.301 N 0.052 0.034 -1.012 0.261 T 0.011 0.039 T . . . 0.215 0.115 4.834 0.673 0.081 0.324 0.243 N c -0.618 -0.513 0.000 0.068 0.707 0.730 0 2.84 0.321 0.697 0.251 -0.050 0.123 0.460 0.264 0.340 0.244 7.345 0.257 Cadherin|Cadherin-like . . 0.0486 0.0533 0.0342 0.0164 0.0547 0.0391 0.0583 0.0528 0.0399 0.0508 0.0488 0.0370 0.0066 0.0586 0.0412 0.0542 0.0622 het 616.02 52 4 126412891 . C T 616.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.172;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.55;MQ0=0;MQRankSum=0.604;QD=11.85;ReadPosRankSum=1.740;VQSLOD=6.0590;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:646,0,648 4 128565000 128565000 A G exonic INTU synonymous SNV INTU:NM_015693:exon2:c.A471G:p.R157R 0.62 0.67 0.58 0.55 0.54 0.72 0.5598 0.6407 0.5747 0.5270 0.4602 0.5230 0.5407 0.7050 0.56 0.64 0.53 0.52 0.57 rs3749507 COSM4002934;COSM4002935 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5561 0.6440 0.5847 0.5759 0.5355 0.4540 0.5181 0.5496 0.6995 0.5328 0.6403 0.5847 0.5497 0.5207 0.4665 0.4857 0.5041 het 1256.94 112 4 128565000 . A G 1256.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.248;DP=112;Dels=0.00;FS=1.536;HRun=1;HaplotypeScore=3.9817;MQ=58.67;MQ0=0;MQRankSum=-0.903;QD=11.22;ReadPosRankSum=0.169;VQSLOD=5.5841;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,53:112:99:1287,0,1497 4 128584580 128584580 G A exonic INTU synonymous SNV INTU:NM_015693:exon4:c.G813A:p.T271T 0.65 0.75 0.6 0.55 0.56 0.74 0.5881 0.7286 0.5976 0.5332 0.4639 0.5504 0.5751 0.7242 0.61 0.72 0.55 0.61 0.53 rs4833380 COSM4002937;COSM4002936 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5818 0.7348 0.6046 0.5891 0.5419 0.4562 0.5463 0.5896 0.7194 0.5761 0.7307 0.6190 0.5596 0.5282 0.4676 0.5175 0.5265 het 850.14 58 4 128584580 . G A 850.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.449;DP=58;Dels=0.00;FS=13.092;HRun=0;HaplotypeScore=1.7319;MQ=58.22;MQ0=0;MQRankSum=1.087;QD=14.66;ReadPosRankSum=-2.447;VQSLOD=2.7201;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,32:58:99:880,0,692 4 128689936 128689936 A G exonic SLC25A31 synonymous SNV SLC25A31:NM_001318467:exon5:c.A663G:p.P221P,SLC25A31:NM_031291:exon5:c.A663G:p.P221P 0.54 0.33 0.64 0.41 0.66 0.74 0.6171 0.3875 0.6040 0.3887 0.5793 0.6544 0.6504 0.7522 0.57 0.4 0.65 0.42 0.48 rs2305958 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6140 0.3776 0.6060 0.7132 0.3886 0.5756 0.6450 0.6442 0.7467 0.5434 0.4015 0.6136 0.6913 0.4046 0.5778 0.6228 0.5917 hom 2199.32 72 4 128689936 . A G 2199.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.684;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5364;MQ=59.68;MQ0=0;MQRankSum=0.818;QD=30.55;ReadPosRankSum=0.433;VQSLOD=8.8653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,71:72:99:2232,193,0 4 128723042 128723042 T C exonic HSPA4L nonsynonymous SNV HSPA4L:NM_001317383:exon5:c.T509C:p.L170S,HSPA4L:NM_001317382:exon6:c.T554C:p.L185S,HSPA4L:NM_014278:exon6:c.T632C:p.L211S,HSPA4L:NM_001317381:exon7:c.T725C:p.L242S 0.75 0.8 0.77 0.68 0.69 0.78 0.7048 0.7977 0.7743 0.6530 0.6378 0.6733 0.7185 0.7783 0.71 0.8 0.67 0.69 0.65 rs1380154 COSM4002940;COSM1131260 1(haematopoietic_and_lymphoid_tissue);2(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.198 P -3.675 0.000 N 6.73 0.005 T 3.84 0.001 N 0.113 0.211 -1.040 0.174 T 0.000 0.000 T . . . 1.084 0.198 11.13 0.599 0.062 0.038 0.090 N c -0.984 -0.630 0.998 0.366 0.615 0.372 0 3.97 0.451 4.396 0.592 0.066 0.173 1.000 0.715 0.988 0.529 9.682 0.391 . ENSG00000164070.7|ENSG00000261668.1|ENSG00000164066.8|ENSG00000164070.7 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Testis|Thyroid 0.7031 0.8005 0.7789 0.7203 0.6607 0.6358 0.6659 0.7151 0.7747 0.6893 0.7954 0.7578 0.6921 0.6466 0.6384 0.6423 0.6551 hom 2205.95 79 4 128723042 . T C 2205.95 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6427;MQ=57.42;MQ0=0;QD=27.92;VQSLOD=4.7116;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2239,181,0 4 128807219 128807219 T A exonic PLK4 nonsynonymous SNV PLK4:NM_001190799:exon4:c.T598A:p.S200T,PLK4:NM_001190801:exon5:c.T571A:p.S191T,PLK4:NM_014264:exon5:c.T694A:p.S232T 0.74 0.8 0.77 0.67 0.68 0.77 0.7033 0.7958 0.7737 0.6526 0.6372 0.6722 0.7181 0.7734 0.71 0.8 0.67 0.69 0.68 rs3811740 COSM1426971 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.019 T 0.0 0.026 B 0.001 0.040 B 0.752 0.097 N 1 0.090 P 1.145 0.292 L 1.81 0.252 T 0.31 0.050 N 0.026 0.008 -1.004 0.288 T 0.000 0.000 T . . . -1.302 0.022 0.004 0.316 0.018 0.071 0.130 N c -1.414 -1.422 1.000 0.747 0.707 0.730 0 -6.6 0.016 -0.338 0.078 -1.057 0.020 0.000 0.063 0.976 0.476 12.440 0.548 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000164070.7|ENSG00000261668.1|ENSG00000164066.8|ENSG00000164070.7 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Testis|Thyroid 0.7027 0.7986 0.7792 0.7199 0.6607 0.6358 0.6656 0.7151 0.7708 0.6884 0.7930 0.7566 0.6921 0.6454 0.6385 0.6421 0.6531 hom 7277.38 235 4 128807219 . T A 7277.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=235;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5522;MQ=59.92;MQ0=0;MQRankSum=-0.332;QD=30.97;ReadPosRankSum=-0.376;VQSLOD=7.1917;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,234:235:99:7276,575,0 4 128814964 128814964 G T exonic PLK4 nonsynonymous SNV PLK4:NM_001190799:exon12:c.G2394T:p.E798D,PLK4:NM_001190801:exon13:c.G2367T:p.E789D,PLK4:NM_014264:exon13:c.G2490T:p.E830D 0.74 0.8 0.77 0.67 0.68 0.77 0.7032 0.7962 0.7738 0.6525 0.6370 0.6721 0.7196 0.7731 0.71 0.8 0.67 0.69 0.68 rs17012739 COSM4002941 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.677 0.098 T 0.0 0.026 B 0.001 0.040 B 0.857 0.089 N 1 0.090 P -0.875 0.014 N -0.3 0.699 T 0.29 0.076 N 0.011 0.075 -1.091 0.053 T 0.000 0.000 T . . . -2.524 0.003 0.001 0.408 0.029 0.009 0.036 N c -2.604 -2.701 1.0 0.983 0.707 0.730 0 -8.44 0.008 -2.182 0.013 -4.706 0.000 0.000 0.063 0.000 0.016 4.425 0.108 . ENSG00000164070.7|ENSG00000261668.1|ENSG00000164066.8|ENSG00000164070.7 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Testis|Thyroid 0.7028 0.7993 0.7793 0.7198 0.6607 0.6359 0.6655 0.7152 0.7708 0.6891 0.7945 0.7566 0.6921 0.6452 0.6386 0.6428 0.6527 hom 5872.75 205 4 128814964 . G T 5872.75 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=28.65;VQSLOD=8.2594;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:5872,460,0 4 129012638 129012638 A G exonic LARP1B synonymous SNV LARP1B:NM_001278604:exon7:c.A639G:p.A213A,LARP1B:NM_018078:exon7:c.A639G:p.A213A,LARP1B:NM_032239:exon7:c.A639G:p.A213A,LARP1B:NM_178043:exon7:c.A639G:p.A213A 0.64 0.57 0.72 0.53 0.68 0.76 0.6678 0.6152 0.7205 0.5007 0.6039 0.6714 0.6943 0.7610 0.65 0.63 0.67 0.6 0.68 rs1064205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6675 0.6145 0.7251 0.7161 0.5053 0.6040 0.6661 0.6940 0.7597 0.6251 0.6159 0.7010 0.6722 0.5068 0.6103 0.6416 0.6235 het 1704.02 174 4 129012638 . A G 1704.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.406;DP=174;Dels=0.00;FS=3.529;HRun=0;HaplotypeScore=3.6133;MQ=58.67;MQ0=0;MQRankSum=-1.808;QD=9.79;ReadPosRankSum=0.964;VQSLOD=3.5041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,73:174:99:1734,0,2654 4 129043204 129043204 C G exonic LARP1B nonsynonymous SNV LARP1B:NM_001350531:exon9:c.C662G:p.P221R,LARP1B:NM_018078:exon11:c.C1385G:p.P462R,LARP1B:NM_178043:exon11:c.C1385G:p.P462R 0.59 0.39 0.7 0.53 0.68 0.76 0.6529 0.4482 0.7149 0.5017 0.6044 0.6712 0.6905 0.7606 0.59 0.46 0.66 0.53 0.69 rs12508837 COSM5003867;COSM5003868 1(pancreas) . . . . . . . . . . . 0.004 0.654 D 1.0 0.899 D 0.999 0.971 D 0.000 0.629 D 0.015 0.810 P 2.66 0.781 M 1.9 0.327 T -4.13 0.772 D 0.506 0.550 -0.953 0.405 T 0.000 0.000 T . . . 3.549 0.484 23.1 0.995 0.705 0.924 0.553 D c 0.085 -0.024 0.006 0.112 0.651 0.465 0 2.54 0.295 1.631 0.365 -1.109 0.018 0.994 0.380 0.008 0.104 7.708 0.277 . . . 0.6570 0.4436 0.7188 0.7161 0.5060 0.6048 0.6662 0.6894 0.7602 0.5796 0.4554 0.6890 0.67 0.5068 0.6112 0.6418 0.6189 het 2326.94 171 4 129043204 . C G 2326.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.945;DP=171;Dels=0.00;FS=3.563;HRun=0;HaplotypeScore=0.7887;MQ=56.08;MQ0=0;MQRankSum=0.846;QD=13.61;ReadPosRankSum=-0.531;VQSLOD=2.5962;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,90:171:99:2357,0,2168 4 129043286 129043286 C T exonic LARP1B synonymous SNV LARP1B:NM_001350531:exon9:c.C744T:p.Y248Y,LARP1B:NM_018078:exon11:c.C1467T:p.Y489Y,LARP1B:NM_178043:exon11:c.C1467T:p.Y489Y 0.59 0.4 0.7 0.53 0.68 0.76 0.6531 0.4494 0.7150 0.5019 0.6042 0.6712 0.6905 0.7608 0.59 0.46 0.66 0.51 0.69 rs3733320 COSM4158793;COSM4158794 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6571 0.4448 0.7186 0.7163 0.5060 0.6049 0.6664 0.6895 0.7605 0.5800 0.4561 0.6878 0.6722 0.5093 0.6115 0.6418 0.6176 het 1935.48 177 4 129043286 . C T 1935.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.361;DP=177;Dels=0.00;FS=10.310;HRun=1;HaplotypeScore=3.7644;MQ=58.40;MQ0=0;MQRankSum=0.858;QD=10.93;ReadPosRankSum=-2.102;VQSLOD=3.7612;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,78:177:99:1965,0,2733 4 129100643 129100643 G A exonic LARP1B nonsynonymous SNV LARP1B:NM_001350531:exon12:c.G1139A:p.R380H,LARP1B:NM_018078:exon15:c.G1979A:p.R660H 0.57 0.33 0.68 0.52 0.68 0.76 0.6468 0.3897 0.7120 0.4932 0.6042 0.6711 0.6850 0.7606 0.58 0.41 0.66 0.52 0.68 rs12645577 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.982 0.249 P -3.125 0.000 N 2.21 0.184 T 6.7 0.000 N 0.059 0.231 -0.918 0.459 T 0.000 0.000 T . . . 0.741 0.165 9.090 0.070 0.000 0.115 0.165 N c -1.186 -0.906 0.501 0.209 0.615 0.372 0 4.16 0.480 5.055 0.639 0.126 0.213 1.000 0.715 0.276 0.233 9.609 0.386 . ENSG00000164070.7 Thyroid 0.6499 0.3810 0.7125 0.7163 0.4944 0.6048 0.6650 0.6833 0.7575 0.5616 0.3948 0.6758 0.6722 0.4988 0.6110 0.6415 0.6127 het 1477.38 132 4 129100643 . G A 1477.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.429;DP=132;Dels=0.00;FS=0.671;HRun=0;HaplotypeScore=6.0650;MQ=59.37;MQ0=0;MQRankSum=0.753;QD=11.19;ReadPosRankSum=0.501;VQSLOD=5.1221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,57:132:99:1507,0,1827 4 129867280 129867280 T A exonic SCLT1 nonsynonymous SNV SCLT1:NM_144643:exon16:c.A1321T:p.S441C 0.76 0.96 0.76 0.7 0.67 0.64 0.6953 0.9216 0.7517 0.6882 0.6464 0.6577 0.71 0.6867 0.74 0.91 0.65 0.76 0.43 rs10028124 COSM5983423;COSM5983424 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.05 0.395 D 0.973 0.556 D 0.724 0.532 P 0.273 0.151 N 0.919 0.588 P 0.895 0.225 L 1.51 0.309 T -2.12 0.481 N 0.08 0.072 -1.020 0.237 T 0.000 0.000 T . . . 3.767 0.510 23.4 0.989 0.483 0.094 0.150 N c -0.140 -0.233 0.000 0.065 0.732 0.924 0 1.5 0.219 0.031 0.135 1.061 0.807 0.046 0.210 0.997 0.653 6.192 0.196 . ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts 0.6919 0.9255 0.7453 0.6750 0.6934 0.6439 0.6556 0.7026 0.6864 0.7283 0.9172 0.7673 0.6689 0.6904 0.6616 0.6398 0.6779 het 707.44 49 4 129867280 . T A 707.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.738;DP=49;Dels=0.00;FS=4.322;HRun=0;HaplotypeScore=4.4029;MQ=58.24;MQ0=0;MQRankSum=0.717;QD=14.44;ReadPosRankSum=0.515;VQSLOD=4.7296;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,28:49:99:737,0,512 4 129924977 129924977 C A exonic SCLT1 synonymous SNV SCLT1:NM_144643:exon6:c.G345T:p.L115L 0.54 0.22 0.61 0.64 0.64 0.71 0.6267 0.2827 0.5931 0.6308 0.6451 0.6681 0.6079 0.6904 0.54 0.3 0.67 0.53 0.77 rs3113487 COSM1131255;COSM1131256 3(haematopoietic_and_lymphoid_tissue);2(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6283 0.2703 0.5853 0.6717 0.6279 0.6479 0.6670 0.6104 0.6886 0.5624 0.2875 0.5647 0.69 0.6242 0.6386 0.6915 0.6258 hom 1823.11 54 4 129924977 . C A 1823.11 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.27;MQ0=0;QD=33.76;VQSLOD=9.3835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1856,150,0 4 130030652 130030652 A G exonic C4orf33 nonsynonymous SNV C4orf33:NM_001099783:exon5:c.A319G:p.M107V,C4orf33:NM_173487:exon5:c.A319G:p.M107V 0.7 0.39 0.73 0.74 0.81 0.92 0.7845 0.4449 0.7191 0.7635 0.8594 0.8191 0.7896 0.8849 0.7 0.47 0.82 0.62 0.82 rs337277 COSM1131254 1(haematopoietic_and_lymphoid_tissue);2(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P -2.505 0.001 N 1.42 0.332 T 1.64 0.006 N 0.025 0.106 -0.962 0.388 T 0.000 0.000 T . . . -0.299 0.068 0.669 0.254 0.012 0.130 0.174 N c -0.899 -0.608 0.935 0.272 0.706 0.609 0 5.61 0.853 4.981 0.633 0.138 0.222 1.000 0.715 0.088 0.184 13.712 0.620 . ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8|ENSG00000151470.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Stomach|Testis|Thyroid|Whole_Blood 0.7891 0.4428 0.7212 0.8306 0.7594 0.8572 0.8183 0.7872 0.8845 0.7265 0.4609 0.7177 0.8456 0.7704 0.8565 0.8388 0.8051 hom 2553.05 85 4 130030652 . A G 2553.05 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.2434;MQ=58.57;MQ0=0;QD=30.04;VQSLOD=7.4726;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:85:99:2586,199,0 4 138449683 138449683 A G exonic PCDH18 synonymous SNV PCDH18:NM_001300828:exon3:c.T2686C:p.L896L,PCDH18:NM_019035:exon3:c.T2689C:p.L897L 0.57 0.9 0.45 0.51 0.42 0.44 0.4742 0.8256 0.4295 0.4993 0.4820 0.4284 0.4681 0.4531 0.55 0.8 0.42 0.67 0.43 rs10018837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4654 0.8315 0.4354 0.4228 0.5056 0.4801 0.4238 0.4493 0.4502 0.5486 0.8143 0.4474 0.4267 0.5175 0.4853 0.4271 0.4420 het 2893.52 249 4 138449683 . A G 2893.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.450;DP=249;DS;Dels=0.00;FS=0.530;HRun=0;HaplotypeScore=3.1104;MQ=58.61;MQ0=0;MQRankSum=4.370;QD=11.62;ReadPosRankSum=-0.511;VQSLOD=3.1541;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,114:249:99:2924,0,3648 4 139093119 139093119 A T exonic SLC7A11 nonsynonymous SNV SLC7A11:NM_014331:exon12:c.T1497A:p.D499E 0.001 . 0.0014 . 0.004 . 0.0017 0.0004 0.0004 0 0.0005 0.0029 0 0 0.0016 0.0002 0.0023 . . rs141122045 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.016 0.280 N 1.000 0.186 N -0.435 0.028 N -2.57 0.897 D 0.07 0.061 N 0.242 0.340 -0.826 0.536 T 0.298 0.670 T 0.016 0.379 T 0.466 0.139 7.168 0.794 0.123 0.328 0.245 N c -1.020 -0.905 0.702 0.227 0.707 0.730 0 0.296 0.149 -0.346 0.077 0.234 0.260 0.229 0.244 0.992 0.562 7.465 0.263 . . . 0.0014 0.0004 0.0002 0 0 0.0011 0.0025 0.0010 0 0.0020 0.0002 0 0 0 0.0014 0.0035 0.0031 het 912.30 94 4 139093119 . A T 912.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.114;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=0.042;QD=9.71;ReadPosRankSum=1.943;VQSLOD=4.2820;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,42:94:99:942,0,1180 4 140005294 140005294 A G exonic ELF2 synonymous SNV ELF2:NM_001276457:exon1:c.T51C:p.I17I,ELF2:NM_001276458:exon1:c.T51C:p.I17I,ELF2:NM_001276459:exon1:c.T51C:p.I17I,ELF2:NM_006874:exon1:c.T51C:p.I17I 1. 1. 1. 1. 1. 1. 0.9999 0.9987 1 1 1 1.0000 1 1 1. 1. 1. 0.43 1. rs4863628 COSM4158811 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9984 1 1 1 1 1 1 1 0.9996 0.9987 1 1 1 1 1 1 hom 7582.63 250 4 140005294 . A G 7582.63 Mask AC=2;AF=1.00;AN=2;DP=250;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4261;MQ=59.10;MQ0=0;QD=30.33;VQSLOD=7.2604;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7559,584,0 4 141543997 141543997 G A exonic TBC1D9 synonymous SNV TBC1D9:NM_015130:exon21:c.C3153T:p.H1051H 0.82 0.93 0.83 0.63 0.81 0.88 0.8045 0.8994 0.8227 0.6801 0.8180 0.7852 0.7997 0.8695 0.8 0.89 0.76 0.79 . rs1560440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7919 0.8984 0.8112 0.8218 0.6575 0.7963 0.7681 0.7916 0.8654 0.8051 0.8968 0.8182 0.8377 0.6605 0.7974 0.7680 0.8004 het 306.69 26 4 141543997 . G A 306.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.363;DP=26;Dels=0.00;FS=3.442;HRun=0;HaplotypeScore=0.9987;MQ=59.28;MQ0=0;MQRankSum=0.077;QD=11.80;ReadPosRankSum=0.591;VQSLOD=6.6539;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,12:26:99:337,0,358 4 141590135 141590135 C T exonic TBC1D9 synonymous SNV TBC1D9:NM_015130:exon9:c.G1524A:p.T508T 0.018 0.0015 0.022 . 0.064 0.011 0.0447 0.0109 0.0171 0.0001 0.0908 0.0632 0.0481 0.0139 0.046 0.012 0.063 0.011 . rs61742550 COSM3760406;COSM3760405 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0443 0.0101 0.0186 0.0159 0.0003 0.0896 0.0658 0.0416 0.0128 0.0539 0.0103 0.0215 0.0132 0 0.0893 0.0799 0.0469 het 360.98 40 4 141590135 . C T 360.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.222;DP=40;Dels=0.00;FS=3.210;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.621;QD=9.02;ReadPosRankSum=0.870;VQSLOD=5.5969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,16:40:99:391,0,705 4 143324094 143324094 G A exonic INPP4B synonymous SNV INPP4B:NM_001101669:exon7:c.C369T:p.D123D,INPP4B:NM_001331040:exon7:c.C369T:p.D123D,INPP4B:NM_003866:exon8:c.C369T:p.D123D 0.25 0.032 0.24 0.29 0.35 0.42 0.3155 0.0735 0.2008 0.2544 0.3626 0.3555 0.3491 0.3978 0.26 0.085 0.35 0.2 0.34 rs1982966 COSM4909329;COSM149743;COSM4158828 1(stomach);13(soft_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3167 0.0652 0.2074 0.3370 0.2555 0.3625 0.3592 0.3294 0.3991 0.2785 0.0757 0.2470 0.3477 0.2472 0.3589 0.3759 0.3653 het 1390.76 122 4 143324094 . G A 1390.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.807;DP=122;Dels=0.00;FS=0.759;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;MQRankSum=-0.974;QD=11.40;ReadPosRankSum=1.115;VQSLOD=6.1128;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,53:122:99:1421,0,1807 4 144442611 144442611 T C exonic SMARCA5 synonymous SNV SMARCA5:NM_003601:exon3:c.T282C:p.Y94Y 0.29 0.22 0.26 0.61 0.21 0.17 0.2275 0.2189 0.2599 0.6106 0.1831 0.1961 0.2013 0.1562 0.2 0.22 0.19 0.22 0.16 rs11100790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2323 0.2179 0.2726 0.2195 0.6078 0.1836 0.1952 0.2258 0.1600 0.2289 0.2110 0.2722 0.2252 0.6242 0.1805 0.2057 0.2254 hom 2015.12 70 4 144442611 . T C 2015.12 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=28.79;VQSLOD=8.7781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2048,156,0 4 144442735 144442735 C T exonic SMARCA5 synonymous SNV SMARCA5:NM_003601:exon3:c.C406T:p.L136L 0.52 0.51 0.43 0.74 0.42 0.47 0.4613 0.5087 0.4045 0.7369 0.4045 0.4344 0.4492 0.4590 0.46 0.52 0.42 0.48 0.35 rs11541117 COSM3760414 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4568 0.5107 0.4097 0.4572 0.7331 0.4026 0.43 0.4572 0.4632 0.4667 0.5 0.4337 0.5199 0.7401 0.4105 0.4320 0.4589 hom 1290.34 43 4 144442735 . C T 1290.34 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=30.01;VQSLOD=8.4978;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1323,102,0 4 144467104 144467104 T C exonic SMARCA5 synonymous SNV SMARCA5:NM_003601:exon19:c.T2424C:p.N808N 0.99 0.96 1. 1. 1. 1. 0.9982 0.9821 0.9992 1 1 1.0000 1 0.9986 0.99 0.98 1. 0.97 0.82 rs13139128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9987 0.9833 0.9994 1 1 1 1.0000 0.9993 0.9988 0.9959 0.9857 0.9988 1 1 1 1 0.9980 hom 5704.57 182 4 144467104 . T C 5704.57 Mask AC=2;AF=1.00;AN=2;DP=182;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=59.87;MQ0=0;QD=31.34;VQSLOD=8.4330;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5703,484,0 4 144801662 144801662 C T exonic GYPE nonsynonymous SNV GYPE:NM_002102:exon2:c.G38A:p.G13E,GYPE:NM_198682:exon2:c.G38A:p.G13E 0.53 0.62 0.46 0.61 0.49 0.44 0.4329 0.5947 0.3532 0.5770 0.3701 0.4182 0.4137 0.3951 . . . 0.17 . rs1132785 COSM4158833 2(prostate);1(thyroid);7(upper_aerodigestive_tract);1(large_intestine) Benign not_specified RCV000455644.1 MedGen CN169374 . . . . . . 0.937 0.022 T 0.003 0.102 B 0.001 0.040 B . . . 1 0.090 P . . . 4.24 0.026 T 3.46 0.001 N 0.11 0.130 -0.982 0.345 T 0.000 0.000 T . . . -1.875 0.010 0.002 0.229 0.009 0.001 0.008 N c -1.530 -1.809 0.938 0.273 0.554 0.246 0 -3.03 0.051 -2.391 0.011 -1.658 0.008 0.000 0.063 0.005 0.090 4.603 0.117 . ENSG00000251600.1|ENSG00000197465.9|ENSG00000250345.2|ENSG00000197465.9|ENSG00000251600.1|ENSG00000251600.1|ENSG00000250345.2|ENSG00000251600.1|ENSG00000251600.1|ENSG00000197465.9|ENSG00000246448.2|ENSG00000250345.2|ENSG00000251600.1|ENSG00000251600.1|ENSG00000251600.1|ENSG00000251600.1|ENSG00000251600.1|ENSG00000250345.2|ENSG00000251600.1|ENSG00000251600.1|ENSG00000197465.9|ENSG00000251600.1|ENSG00000197465.9|ENSG00000251600.1|ENSG00000197465.9|ENSG00000251600.1|ENSG00000197465.9|ENSG00000251600.1|ENSG00000251600.1|ENSG00000251600.1|ENSG00000197465.9|ENSG00000250345.2|ENSG00000251600.1|ENSG00000250345.2|ENSG00000251600.1|ENSG00000250345.2|ENSG00000251600.1|ENSG00000197465.9|ENSG00000197465.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.4735 0.6352 0.4364 0.4849 0.6275 0.4133 0.4647 0.4733 0.4380 0.5193 0.6351 0.4553 0.4959 0.6145 0.4019 0.4795 0.4563 hom 2749.99 126 4 144801662 . C T 2749.99 Mask AC=2;AF=1.00;AN=2;DP=126;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=52.76;MQ0=4;QD=21.83;VQSLOD=5.8255;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,89:126:99:2783,229,0 4 144918712 144918712 C G exonic GYPB nonsynonymous SNV GYPB:NM_002100:exon4:c.G251C:p.S84T,GYPB:NM_001304382:exon5:c.G173C:p.S58T 0.18 0.067 0.14 0.21 0.18 0.31 0.2190 0.0786 0.1275 0.1973 0.2097 0.2320 0.2483 0.3267 0.18 0.079 0.23 0.22 . rs1132783 COSM5002360 1(pancreas) . . . . . . . . . . . 0.581 0.084 T 0.024 0.178 B 0.01 0.139 B 0.801 0.068 N 1 0.194 P . . . 2.51 0.143 T -0.52 0.262 N 0.119 0.132 -0.913 0.466 T 0.000 0.000 T . . . 0.192 0.112 4.593 0.438 0.033 0.007 0.028 N c -1.316 -1.462 0.128 0.170 0.487 0.133 0 -4.16 0.036 -1.258 0.030 0.622 0.289 0.000 0.063 0.029 0.146 5.188 0.144 . ENSG00000246448.2 Artery_Tibial 0.2160 0.0734 0.1338 0.2587 0.1941 0.2066 0.2312 0.2259 0.3243 0.1784 0.0735 0.1615 0.2616 0.2066 0.2056 0.2250 0.2255 het 1144.05 96 4 144918712 . C G 1144.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.216;DP=96;Dels=0.00;FS=3.945;HRun=0;HaplotypeScore=1.3670;MQ=59.32;MQ0=0;MQRankSum=1.478;QD=11.92;ReadPosRankSum=-0.568;VQSLOD=5.4976;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,46:96:99:1174,0,1311 4 147824864 147824864 G A exonic TTC29 nonsynonymous SNV TTC29:NM_001317806:exon6:c.C418T:p.H140Y,TTC29:NM_031956:exon6:c.C418T:p.H140Y,TTC29:NM_001300761:exon7:c.C496T:p.H166Y 0.55 0.66 0.59 0.55 0.36 0.56 0.4819 0.6136 0.6468 0.5549 0.4222 0.4038 0.4709 0.5855 0.44 0.58 0.37 0.56 . rs17610219 COSM3760420;COSM3760421 1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P -2.9 0.000 N 2.41 0.155 T 4.23 0.000 N 0.088 0.109 -0.940 0.426 T 0.000 0.000 T . . . -0.077 0.086 1.906 0.250 0.011 0.027 0.072 N c -0.980 -0.671 0.005 0.107 0.516 0.203 0 5.62 0.857 4.786 0.619 0.244 0.267 0.997 0.399 0.598 0.288 10.429 0.434 Tetratricopeptide-like helical domain ENSG00000137473.13 Cells_Transformed_fibroblasts 0.4640 0.6085 0.6165 0.4454 0.5391 0.4014 0.3805 0.4580 0.5554 0.4679 0.5975 0.5683 0.4801 0.5257 0.4053 0.3983 0.4199 hom 706.94 25 4 147824864 . G A 706.94 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.73;MQ0=0;QD=28.28;VQSLOD=7.7785;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:57.18:740,57,0 4 148549569 148549569 C T exonic TMEM184C synonymous SNV TMEM184C:NM_018241:exon5:c.C555T:p.F185F . . . . . . 0.0013 0.0003 0.0003 0 0.0006 0.0022 0 0 0.0015 0.0007 0.0019 . . rs148299197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0003 0.0003 0 0 0.0007 0.0019 0.0007 0 0.0009 0.0002 0 0 0 0.0020 0.0013 0.0010 het 1232.99 142 4 148549569 . C T 1232.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.190;DP=142;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7333;MQ=58.82;MQ0=0;MQRankSum=-0.121;QD=8.68;ReadPosRankSum=0.917;VQSLOD=4.3759;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,52:142:99:1263,0,2292 4 148560193 148560193 C T exonic PRMT9 nonsynonymous SNV PRMT9:NM_001350143:exon9:c.G1325A:p.C442Y,PRMT9:NM_001304458:exon10:c.G1901A:p.C634Y,PRMT9:NM_001350141:exon10:c.G1172A:p.C391Y,PRMT9:NM_001350144:exon10:c.G1016A:p.C339Y,PRMT9:NM_138364:exon11:c.G2240A:p.C747Y,PRMT9:NM_001350142:exon12:c.G1901A:p.C634Y 0.0082 . 0.01 . 0.034 . 0.0160 0.0046 0.0110 0 0.0203 0.0241 0.0110 0.0005 0.021 0.0048 0.029 . 0.041 rs11557361 . . . . . . . . . . . . . 0.847 0.028 T 0.947 0.515 P 0.382 0.421 B 0.000 0.843 D 1.000 0.810 D 2.39 0.691 M 1.41 0.334 T -0.45 0.148 N 0.322 0.800 -1.073 0.088 T 0.017 0.070 T . . . 3.681 0.499 23.3 0.900 0.187 0.967 0.705 D c 0.236 0.295 1.000 0.747 0.615 0.372 0 5.25 0.731 5.419 0.660 0.935 0.490 1.000 0.715 0.997 0.653 13.186 0.589 S-adenosyl-L-methionine-dependent methyltransferase . . 0.0160 0.0041 0.0119 0.0024 0 0.0217 0.0256 0.0190 0.0006 0.0164 0.0058 0.0036 0 0 0.0240 0.0238 0.0133 het 888.01 86 4 148560193 . C T 888.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.167;DP=86;Dels=0.00;FS=8.836;HRun=0;HaplotypeScore=2.9423;MQ=59.19;MQ0=0;MQRankSum=-1.430;QD=10.33;ReadPosRankSum=-0.323;VQSLOD=4.1117;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,37:86:99:918,0,1318 4 149356516 149356516 A G exonic NR3C2 synonymous SNV NR3C2:NM_000901:exon2:c.T1497C:p.D499D,NR3C2:NM_001166104:exon2:c.T1497C:p.D499D 0.89 0.93 0.83 0.85 0.92 0.9 0.8819 0.9105 0.7647 0.8567 0.9135 0.8929 0.9064 0.9005 0.9 0.91 0.89 0.88 0.93 rs5525 . . Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_Type_I\x2c_Dominant RCV000253646.1|RCV000348059.1 MedGen|MedGen CN169374|CN239441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8773 0.9079 0.7743 0.9015 0.8618 0.9136 0.8906 0.8791 0.9004 0.8891 0.9023 0.8031 0.8808 0.875 0.9096 0.8835 0.8839 hom 4547.90 146 4 149356516 . A G 4547.90 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4370;MQ=59.53;MQ0=0;QD=31.15;VQSLOD=9.1508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:146:99:4547,361,0 4 149357475 149357475 C T exonic NR3C2 nonsynonymous SNV NR3C2:NM_000901:exon2:c.G538A:p.V180I,NR3C2:NM_001166104:exon2:c.G538A:p.V180I 0.89 0.93 0.83 0.85 0.92 0.9 0.8812 0.9095 0.7635 0.8561 0.9135 0.8921 0.9042 0.9004 0.9 0.91 0.89 0.87 0.93 rs5522 . . Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_Type_I\x2c_Dominant RCV000245161.1|RCV000313848.1 MedGen|MedGen CN169374|CN239441 . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.040 B 0.958 0.082 N 1 0.090 P . . . -2.46 0.889 D -0.05 0.078 N 0.016 0.007 -1.005 0.284 T 0.000 0.000 T . . . -1.550 0.016 0.002 0.416 0.030 0.011 0.040 N c -1.471 -1.542 0.560 0.214 0.563 0.310 0 -3.8 0.040 -0.321 0.080 -1.085 0.019 0.012 0.185 0.605 0.289 7.615 0.272 . . . 0.8766 0.9072 0.7736 0.8923 0.8618 0.9135 0.8904 0.8781 0.9003 0.8885 0.9020 0.8019 0.8709 0.8745 0.9098 0.8828 0.8822 hom 6384.58 217 4 149357475 . C T 6384.58 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0998;MQ=59.05;MQ0=0;QD=29.42;VQSLOD=7.6164;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,215:217:99:6360,494,0 4 151199080 151199080 G A exonic LRBA nonsynonymous SNV LRBA:NM_001199282:exon56:c.C8390T:p.S2797L,LRBA:NM_006726:exon57:c.C8426T:p.S2809L 0.14 0.012 0.13 0.24 0.27 0.095 0.2028 0.0478 0.1019 0.2643 0.2211 0.2579 0.2026 0.1090 0.2 0.053 0.27 0.12 0.22 rs2290846 COSM3760423 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000455932.1 MedGen CN169374 . . . . . . 0.327 0.132 T 0.226 0.288 B 0.028 0.260 B 0.026 0.260 N 0.131 0.355 P 1.175 0.300 L 1.14 0.384 T -0.37 0.132 N 0.12 0.382 -1.017 0.248 T 0.000 0.000 T . . . 5.352 0.725 25.9 0.993 0.570 0.849 0.437 D c -0.203 -0.031 0.893 0.259 0.706 0.609 0 4.37 0.517 3.060 0.494 1.045 0.669 0.997 0.399 0.564 0.282 13.956 0.635 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000170390.10 Whole_Blood 0.2012 0.0440 0.1109 0.1394 0.2639 0.2171 0.2682 0.1996 0.1085 0.1976 0.0501 0.1367 0.1523 0.2960 0.2259 0.2681 0.2393 het 2572.06 170 4 151199080 . G A 2572.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.596;DP=170;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2439;MQ=59.47;MQ0=0;MQRankSum=0.279;QD=15.13;ReadPosRankSum=1.622;VQSLOD=5.5396;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,91:170:99:2602,0,1943 4 151207127 151207127 C T exonic LRBA nonsynonymous SNV LRBA:NM_001199282:exon54:c.G8074A:p.A2692T,LRBA:NM_006726:exon55:c.G8110A:p.A2704T 0.16 0.036 0.16 0.24 0.3 0.12 0.2773 0.0945 0.1852 0.3135 0.3189 0.3392 0.2797 0.1511 0.22 0.079 0.3 0.14 0.16 rs3749574 COSM3760424 1(large_intestine) Benign not_specified RCV000454677.1 MedGen CN169374 . . . . . . 0.239 0.185 T 0.001 0.067 B 0.001 0.104 B 0.000 0.629 D 0.996 0.232 P 0.95 0.239 L 0.89 0.502 T -0.4 0.138 N 0.061 0.479 -1.056 0.128 T 0.000 0.000 T . . . 2.559 0.369 19.85 0.947 0.247 0.562 0.298 D c -0.226 -0.044 0.636 0.220 0.706 0.609 0 4.83 0.617 1.953 0.397 0.935 0.490 0.931 0.321 0.531 0.276 9.317 0.369 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000170390.10 Whole_Blood 0.2091 0.0617 0.1168 0.1620 0.2434 0.2206 0.2796 0.2181 0.1150 0.2192 0.0775 0.1555 0.1921 0.2963 0.2355 0.2914 0.2520 het 259.81 23 4 151207127 . C T 259.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.354;DP=23;Dels=0.00;FS=3.976;HRun=0;HaplotypeScore=0.5784;MQ=58.36;MQ0=0;MQRankSum=-1.446;QD=11.30;ReadPosRankSum=2.739;VQSLOD=3.6330;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:290,0,304 4 152201018 152201018 - CAGGT exonic PRSS48 frameshift insertion PRSS48:NM_183375:exon2:c.123_124insCAGGT:p.S44Rfs*20 0.21 0.079 0.25 0.18 0.42 0.19 0.3391 0.1343 0.1826 0.1977 0.4163 0.4346 0.3508 0.2268 0.34 0.14 0.43 . . rs77216366 COSM4603564;COSM4603563 1(liver);16(upper_aerodigestive_tract);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3337 0.1327 0.1926 0.2898 0.2003 0.4134 0.4416 0.3438 0.2261 0.3337 0.1421 0.2476 0.3079 0.2065 0.4087 0.4442 0.3897 het 6975.81 237 4 152201018 . G GCAGGT 6975.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.313;DP=237;FS=24.184;HRun=0;HaplotypeScore=1109.1055;MQ=51.01;MQ0=0;MQRankSum=-9.291;QD=29.31;ReadPosRankSum=-1.300;set=variant2 GT:AD:DP:GQ:PL 0/1:161,69:237:99:6976,0,6354 4 152212603 152212603 T G exonic PRSS48 stoploss PRSS48:NM_183375:exon5:c.T985G:p.X329E 0.78 0.7 0.87 0.74 0.94 0.69 0.8848 0.7442 0.8786 0.7601 0.8808 0.9603 0.8902 0.7287 0.9 0.75 0.97 0.79 . rs2407221 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . 0.028 0.096 2.857 0.512 0.044 0.002 0.013 N c -0.135 -0.529 0.999 0.398 0.058 0.007 0 0.679 0.171 -0.332 0.079 -0.004 0.134 0.005 0.169 0.031 0.148 0.854 0.011 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000270681.1 Adipose_Subcutaneous 0.8814 0.7340 0.8777 0.9147 0.7490 0.8764 0.9637 0.9081 0.7210 0.8671 0.7315 0.8636 0.9238 0.7326 0.8725 0.9563 0.8929 hom 1151.21 33 4 152212603 . T G 1151.21 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=34.89;VQSLOD=9.8266;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:99:1184,99,0 4 153690842 153690842 T C exonic TIGD4 nonsynonymous SNV TIGD4:NM_145720:exon2:c.A1315G:p.I439V 0.69 0.69 0.75 0.7 0.61 0.75 0.6606 0.6779 0.7914 0.7043 0.6476 0.6121 0.6424 0.7369 0.63 0.67 0.61 0.71 0.56 rs4696354 COSM1131225 2(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.854 0.071 N 1 0.090 P -0.695 0.019 N 2.65 0.127 T 0.02 0.068 N 0.003 0.001 -0.986 0.337 T 0.000 0.000 T . . . -2.974 0.001 0.001 0.157 0.004 0.008 0.032 N c -1.191 -1.092 1.000 0.441 0.615 0.372 0 3.1 0.346 -0.278 0.085 -0.324 0.076 0.000 0.063 0.000 0.016 0.734 0.009 . ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10|ENSG00000164144.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood 0.6646 0.6785 0.7832 0.5482 0.7034 0.6462 0.6173 0.6413 0.7327 0.6502 0.6795 0.7375 0.5298 0.6783 0.6525 0.6285 0.6286 het 930.43 71 4 153690842 . T C 930.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.872;DP=71;Dels=0.00;FS=0.966;HRun=0;HaplotypeScore=1.9092;MQ=58.36;MQ0=0;MQRankSum=0.650;QD=13.10;ReadPosRankSum=-0.869;VQSLOD=5.1872;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,37:71:99:960,0,864 4 153896358 153896358 C T exonic FHDC1 nonsynonymous SNV FHDC1:NM_033393:exon11:c.C1915T:p.R639C 0.48 0.14 0.59 0.55 0.76 0.51 0.6540 0.2225 0.6294 0.5657 0.7416 0.7536 0.6629 0.5434 0.58 0.23 0.76 0.39 0.63 rs3811833 COSM3721816 1(urinary_tract);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.022 0.486 D 0.997 0.689 D 0.563 0.478 P 0.763 0.096 N 1 0.090 P 2.215 0.627 M 1.39 0.338 T -3.32 0.660 D 0.069 0.056 -1.004 0.289 T 0.000 0.000 T . . . 2.680 0.383 20.7 0.998 0.923 0.191 0.203 N c -0.058 -0.213 1.000 0.451 0.635 0.413 0 3.68 0.412 0.609 0.238 0.852 0.362 0.000 0.063 0.003 0.074 13.886 0.631 . . . 0.6600 0.2080 0.6273 0.7621 0.5563 0.7326 0.7533 0.7114 0.5459 0.5936 0.2284 0.6217 0.7881 0.5571 0.7418 0.7644 0.6834 het 1106.95 83 4 153896358 . C T 1106.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.261;DP=83;Dels=0.00;FS=2.996;HRun=0;HaplotypeScore=1.4105;MQ=60.00;MQ0=0;MQRankSum=-0.436;QD=13.34;ReadPosRankSum=-0.241;VQSLOD=6.1975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,41:83:99:1137,0,1147 4 153896765 153896765 G C exonic FHDC1 synonymous SNV FHDC1:NM_033393:exon11:c.G2322C:p.S774S 0.057 0.12 0.032 0.03 0.043 0.027 0.0463 0.1135 0.0203 0.0239 0.0305 0.0464 0.0446 0.0406 0.064 0.11 0.04 0.15 0.082 rs7688776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0422 0.1133 0.0218 0.0361 0.0230 0.0352 0.0434 0.0380 0.0430 0.0577 0.1139 0.0191 0.0298 0.0216 0.0321 0.0381 0.05 het 2069.93 180 4 153896765 . G C 2069.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.332;DP=180;Dels=0.00;FS=6.396;HRun=1;HaplotypeScore=2.7980;MQ=58.79;MQ0=0;MQRankSum=-0.372;QD=11.50;ReadPosRankSum=-1.843;VQSLOD=4.2653;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,91:180:99:2100,0,2193 4 153897770 153897770 G A exonic FHDC1 synonymous SNV FHDC1:NM_033393:exon11:c.G3327A:p.T1109T 0.46 0.14 0.57 0.55 0.69 0.5 0.6203 0.2362 0.6294 0.5824 0.6457 0.6925 0.6128 0.5465 0.54 0.22 0.7 0.36 0.31 rs3811832 COSM4158864 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6088 0.1959 0.6084 0.7404 0.5555 0.6183 0.6791 0.6651 0.5318 0.5324 0.2160 0.6091 0.7649 0.5576 0.6336 0.6772 0.5992 het 163.20 12 4 153897770 . G A 163.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.869;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.779;QD=13.60;ReadPosRankSum=0.869;VQSLOD=11.4516;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:193,0,153 4 154216710 154216710 G A exonic TRIM2 synonymous SNV TRIM2:NM_001130067:exon6:c.G951A:p.T317T,TRIM2:NM_001351054:exon6:c.G1005A:p.T335T,TRIM2:NM_001351055:exon6:c.G1002A:p.T334T,TRIM2:NM_001351056:exon6:c.G951A:p.T317T,TRIM2:NM_015271:exon6:c.G1032A:p.T344T,TRIM2:NM_001351057:exon7:c.G576A:p.T192T 0.46 0.65 0.4 0.18 0.46 0.51 0.4721 0.6300 0.3680 0.1931 0.5707 0.4902 0.4856 0.4782 0.53 0.63 0.48 0.53 0.37 rs893805 COSM1131224;COSM4002967 1(bone);2(breast);1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4624 0.6350 0.3749 0.4617 0.1944 0.5637 0.4824 0.4662 0.4759 0.5275 0.6330 0.3866 0.4470 0.1896 0.5610 0.5044 0.5288 het 1288.15 101 4 154216710 . G A 1288.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.636;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4947;MQ=58.80;MQ0=0;MQRankSum=0.596;QD=12.75;ReadPosRankSum=1.568;VQSLOD=6.1281;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,50:101:99:1318,0,1287 4 154506081 154506081 G A exonic TMEM131L synonymous SNV TMEM131L:NM_001131007:exon12:c.G1155A:p.Q385Q,TMEM131L:NM_015196:exon12:c.G1152A:p.Q384Q 0.02 . 0.042 0.001 0.064 0.0051 0.0464 0.0115 0.0210 0 0.0654 0.0694 0.0408 0.0107 0.046 0.014 0.063 0.022 0.11 rs11931730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0452 0.0105 0.0240 0.0179 0.0001 0.0691 0.0701 0.0479 0.0114 0.0449 0.0135 0.0239 0.0232 0 0.0616 0.0655 0.0499 het 939.74 81 4 154506081 . G A 939.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.517;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4248;MQ=58.24;MQ0=0;MQRankSum=-0.735;QD=11.60;ReadPosRankSum=1.427;VQSLOD=4.8153;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:970,0,1326 4 154513627 154513627 A G exonic TMEM131L nonsynonymous SNV TMEM131L:NM_001131007:exon18:c.A1813G:p.I605V,TMEM131L:NM_015196:exon18:c.A1810G:p.I604V 0.23 0.15 0.21 0.24 0.31 0.24 0.2838 0.1724 0.1725 0.2460 0.3489 0.3227 0.3029 0.2676 0.27 0.18 0.31 0.2 0.34 rs7669418 COSM149744;COSM3760429 1(stomach);4(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.810 P -2.52 0.001 N 2.72 0.120 T 0.49 0.030 N 0.028 0.009 -0.937 0.431 T 0.000 0.000 T . . . -0.997 0.032 0.016 0.282 0.014 0.049 0.105 N c -0.847 -0.637 1.000 0.489 0.706 0.609 0 3.55 0.396 6.146 0.713 -0.373 0.066 1.000 0.715 0.189 0.215 10.008 0.409 . . . 0.2792 0.1688 0.1725 0.2260 0.2452 0.3488 0.3258 0.2854 0.2667 0.2838 0.1741 0.2184 0.2649 0.2441 0.3443 0.3382 0.3395 hom 1821.80 62 4 154513627 . A G 1821.80 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8835;MQ=58.95;MQ0=0;QD=29.38;VQSLOD=8.4814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1855,144,0 4 154513722 154513722 C T exonic TMEM131L synonymous SNV TMEM131L:NM_001131007:exon18:c.C1908T:p.H636H,TMEM131L:NM_015196:exon18:c.C1905T:p.H635H 0.23 0.15 0.21 0.24 0.31 0.24 0.2836 0.1724 0.1721 0.2459 0.3475 0.3225 0.3029 0.2674 0.27 0.18 0.31 0.2 0.34 rs7669741 COSM149745;COSM3760430 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2793 0.1688 0.1724 0.2263 0.2449 0.3489 0.3259 0.2852 0.2667 0.2839 0.1745 0.2184 0.2667 0.2451 0.3445 0.3380 0.3384 hom 2409.99 86 4 154513722 . C T 2409.99 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5307;MQ=59.13;MQ0=0;QD=28.02;VQSLOD=8.1054;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2443,193,0 4 154514965 154514965 T C exonic TMEM131L nonsynonymous SNV TMEM131L:NM_001131007:exon19:c.T1937C:p.M646T,TMEM131L:NM_015196:exon19:c.T1934C:p.M645T 0.23 0.15 0.22 0.24 0.31 0.24 0.2842 0.1729 0.1731 0.2463 0.3489 0.3231 0.3018 0.2678 0.27 0.18 0.31 0.2 0.34 rs17370297 COSM3760431;COSM149746 1(stomach);1(pancreas);4(prostate);2(large_intestine) . . . . . . . . . . . 0.581 0.151 T 0.527 0.358 P 0.249 0.373 B 0.011 0.296 N 0.961 0.261 P 1.85 0.492 L 2.57 0.171 T -0.06 0.219 N 0.086 0.081 -0.922 0.454 T 0.000 0.000 T . . . 1.016 0.191 10.76 0.689 0.085 0.649 0.323 D c -0.445 -0.341 0.997 0.351 0.707 0.730 0 2.94 0.330 0.800 0.265 0.964 0.580 0.851 0.302 0.996 0.625 5.010 0.136 . . . 0.2795 0.1691 0.1737 0.2264 0.2446 0.3487 0.3259 0.2851 0.2668 0.2843 0.1750 0.2184 0.2649 0.2453 0.3449 0.3384 0.3381 hom 1762.01 63 4 154514965 . T C 1762.01 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.75;MQ0=0;QD=27.97;VQSLOD=6.9628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1795,144,0 4 154624656 154624656 T C exonic TLR2 synonymous SNV TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N 0.41 0.64 0.33 0.28 0.44 0.29 0.4113 0.6113 0.3166 0.2941 0.3755 0.4353 0.3833 0.3322 0.49 0.61 0.44 0.47 0.57 rs3804099 COSM4002970 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4037 0.6137 0.3238 0.4355 0.2895 0.3748 0.4387 0.4191 0.3317 0.4653 0.6145 0.3438 0.4536 0.2794 0.3743 0.4293 0.4274 het 626.45 88 4 154624656 . T C 626.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=88;Dels=0.00;FS=6.153;HRun=0;HaplotypeScore=0.9867;MQ=58.67;MQ0=0;MQRankSum=1.221;QD=7.12;ReadPosRankSum=1.095;VQSLOD=4.1924;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,27:88:99:656,0,1597 4 154631587 154631587 C G exonic RNF175 nonsynonymous SNV RNF175:NM_173662:exon9:c.G921C:p.L307F 0.08 0.0053 0.15 0.004 0.19 0.098 0.2115 0.0453 0.2541 0.0030 0.2784 0.2631 0.1989 0.1441 0.15 0.037 0.2 0.098 . rs1337 COSM3760437;COSM3760438 1(large_intestine) . . . . . . . . . . . 0.117 0.282 T 0.985 0.592 D 0.728 0.534 P 0.001 0.390 N 0.000 0.486 P 1.78 0.463 L 1.54 0.301 T -2.32 0.514 N 0.179 0.260 -1.098 0.044 T 0.000 0.000 T . . . 4.458 0.597 24.2 0.998 0.909 0.902 0.508 D c 0.331 0.247 0.951 0.279 0.693 0.558 0 2.52 0.294 1.302 0.328 0.935 0.490 1.000 0.715 0.997 0.653 3.972 0.089 . ENSG00000137462.6|ENSG00000145428.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.1624 0.0300 0.1600 0.1558 0.0022 0.2330 0.2043 0.1675 0.1205 0.1557 0.0335 0.1551 0.1954 0.0012 0.2315 0.2223 0.2006 het 123.35 18 4 154631587 . C G 123.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.763;DP=18;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.890;QD=6.85;ReadPosRankSum=0.421;VQSLOD=5.2822;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:153,0,335 4 154644537 154644537 T C exonic RNF175 nonsynonymous SNV RNF175:NM_173662:exon5:c.A475G:p.M159V 0.093 0.0053 0.16 0.004 0.22 0.12 0.2162 0.0426 0.2110 0.0027 0.2905 0.2705 0.2256 0.1744 0.17 0.041 0.23 0.12 . rs10517577 . . . . . . . . . . . . . 0.127 0.270 T 0.565 0.365 P 0.222 0.362 B 0.000 0.497 N 0.005 0.424 P 1.555 0.395 L -1.08 0.771 T -2.47 0.564 N 0.085 0.172 -1.125 0.020 T 0.000 0.000 T . . . 0.997 0.189 10.65 0.921 0.209 0.857 0.445 D c -0.229 -0.178 0.005 0.110 0.706 0.609 0 0.707 0.172 3.576 0.534 0.146 0.234 1.000 0.715 0.962 0.444 7.410 0.260 . ENSG00000137462.6|ENSG00000145428.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.1939 0.0352 0.1830 0.2039 0.0026 0.2670 0.2438 0.2150 0.1513 0.1793 0.0401 0.1763 0.2351 0.0012 0.2615 0.2558 0.2357 het 456.14 45 4 154644537 . T C 456.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.730;DP=45;Dels=0.00;FS=12.588;HRun=0;HaplotypeScore=0.0000;MQ=58.02;MQ0=0;MQRankSum=0.359;QD=10.14;ReadPosRankSum=-1.379;VQSLOD=3.8366;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,18:45:99:486,0,716 4 154709856 154709856 A C exonic SFRP2 synonymous SNV SFRP2:NM_003013:exon1:c.T132G:p.P44P 0.98 0.94 0.99 1. 1. 1. 0.9954 0.9492 0.9976 1 1 0.9999 0.9978 0.9998 0.98 0.95 1. 0.77 0.97 rs6535952 COSM4158870 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9488 0.9972 1 1 1 0.9999 0.9991 0.9999 0.9861 0.9517 0.9964 1 1 1 0.9998 0.9969 hom 4771.91 164 4 154709856 . A C 4771.91 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9315;MQ=59.56;MQ0=0;QD=29.10;VQSLOD=8.2961;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:164:99:4737,388,0 4 155156207 155156207 G A exonic DCHS2 synonymous SNV DCHS2:NM_017639:exon25:c.C8232T:p.D2744D 0.67 0.26 0.65 0.77 0.91 0.89 0.8317 0.3498 0.5921 0.7861 0.9681 0.9217 0.8838 0.9051 0.73 0.36 0.92 0.54 0.89 rs7655799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8322 0.3459 0.5979 0.9084 0.7853 0.9666 0.9224 0.8357 0.9069 0.7538 0.3565 0.6519 0.8808 0.7667 0.9699 0.9262 0.8918 hom 1622.48 50 4 155156207 . G A 1622.48 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=32.45;VQSLOD=9.9160;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1655,132,0 4 155219318 155219318 C T exonic DCHS2 nonsynonymous SNV DCHS2:NM_017639:exon18:c.G4783A:p.E1595K 0.13 0.029 0.1 0.15 0.17 0.24 0.1599 0.0464 0.1268 0.1383 0.1357 0.1752 0.1667 0.2129 0.14 0.066 0.18 0.11 0.16 rs28561984 COSM3760440 3(large_intestine) . . . . . . . . . . . . . . 0.003 0.102 B 0.001 0.040 B 0.817 0.092 N 1 0.090 N 1.08 0.273 L . . . . . . 0.043 0.023 -1.096 0.046 T 0.000 0.001 T . . . 0.948 0.185 10.36 0.839 0.145 0.029 0.076 N c -1.265 -1.249 0.000 0.050 0.487 0.133 0 0.139 0.140 0.565 0.231 -0.815 0.031 0.000 0.063 0.000 0.016 3.095 0.059 Cadherin|Cadherin-like . . 0.1595 0.0437 0.1270 0.2393 0.1411 0.1267 0.1724 0.1779 0.2111 0.1253 0.0430 0.1337 0.2185 0.1578 0.1145 0.1660 0.1857 het 1466.32 102 4 155219318 . C T 1466.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.585;DP=102;Dels=0.00;FS=0.749;HRun=1;HaplotypeScore=3.5296;MQ=59.14;MQ0=0;MQRankSum=-0.127;QD=14.38;ReadPosRankSum=1.693;VQSLOD=5.5943;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,51:102:99:1496,0,1260 4 155219361 155219361 A G exonic DCHS2 synonymous SNV DCHS2:NM_017639:exon18:c.T4740C:p.D1580D 0.17 0.17 0.11 0.15 0.17 0.24 0.1723 0.1742 0.1328 0.1387 0.1357 0.1767 0.1696 0.2130 0.18 0.18 0.18 0.17 0.16 rs17031387 COSM3760441 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1697 0.1753 0.1335 0.2605 0.1412 0.1266 0.1728 0.1832 0.2114 0.1618 0.1698 0.1495 0.2318 0.1574 0.1145 0.1660 0.1914 het 1891.57 119 4 155219361 . A G 1891.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.792;DP=119;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.7882;MQ=59.61;MQ0=0;MQRankSum=1.033;QD=15.90;ReadPosRankSum=-0.122;VQSLOD=5.4110;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,67:119:99:1922,0,1433 4 155219662 155219662 G C exonic DCHS2 nonsynonymous SNV DCHS2:NM_017639:exon18:c.C4439G:p.T1480R 0.17 0.17 0.11 0.15 0.17 0.24 0.1723 0.1741 0.1325 0.1384 0.1356 0.1768 0.1696 0.2135 0.18 0.18 0.18 0.17 0.16 rs17031394 COSM3760442 2(large_intestine) . . . . . . . . . . . . . . 0.001 0.067 B 0.0 0.013 B 0.086 0.024 N 1 0.090 P -0.645 0.021 N . . . . . . 0.083 0.077 -1.038 0.180 T 0.000 0.000 T . . . -1.295 0.022 0.005 0.429 0.032 0.035 0.085 N c -1.523 -1.573 0.976 0.296 0.554 0.246 0 -10.2 0.003 -1.271 0.029 0.154 0.240 0.000 0.063 0.013 0.120 3.735 0.080 Cadherin|Cadherin-like . . 0.1699 0.1753 0.1334 0.2603 0.1412 0.1266 0.1729 0.1830 0.2119 0.1617 0.1701 0.1492 0.2318 0.1561 0.1145 0.1658 0.1914 het 2282.71 186 4 155219662 . G C 2282.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.239;DP=186;Dels=0.00;FS=2.563;HRun=0;HaplotypeScore=6.2055;MQ=58.97;MQ0=0;MQRankSum=-0.280;QD=12.27;ReadPosRankSum=-0.493;VQSLOD=4.2648;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,83:186:99:2313,0,2816 4 155241572 155241572 G A exonic DCHS2 nonsynonymous SNV DCHS2:NM_017639:exon14:c.C3614T:p.S1205L 0.26 0.061 0.3 0.36 0.32 0.36 0.3185 0.0981 0.2903 0.3576 0.4490 0.3294 0.3612 0.3580 0.25 0.1 0.32 0.24 0.31 rs11935573 COSM149748 1(stomach);1(oesophagus);2(prostate);4(large_intestine) . . . . . . . . . . . . . . 0.998 0.715 D 0.891 0.614 P 0.143 0.182 N 0.943 0.267 P 2.66 0.781 M . . . . . . 0.368 0.429 -1.010 0.270 T 0.000 0.000 T . . . 6.423 0.886 29.7 0.999 0.984 0.890 0.490 D c 0.685 0.668 1.000 0.517 0.554 0.246 0 5.56 0.836 4.376 0.591 0.998 0.613 0.988 0.363 1.000 0.888 14.384 0.663 Cadherin|Cadherin-like . . 0.3218 0.0950 0.2834 0.2199 0.3572 0.4513 0.3318 0.3207 0.3594 0.2867 0.0996 0.2768 0.2185 0.3447 0.4605 0.3469 0.3466 het 2381.60 185 4 155241572 . G A 2381.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.614;DP=185;Dels=0.00;FS=2.662;HRun=1;HaplotypeScore=3.2545;MQ=59.06;MQ0=0;MQRankSum=0.238;QD=12.87;ReadPosRankSum=-0.394;VQSLOD=6.3653;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,93:185:99:2412,0,2400 4 155243573 155243573 C T exonic DCHS2 synonymous SNV DCHS2:NM_017639:exon13:c.G2721A:p.S907S 0.79 0.45 0.91 0.88 0.91 0.93 0.8884 0.5115 0.9456 0.8694 0.9517 0.9197 0.9229 0.9427 0.78 0.53 0.92 0.73 0.88 rs13109747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8977 0.5073 0.9404 0.8810 0.8659 0.9494 0.9212 0.9087 0.9436 0.8109 0.5155 0.9260 0.8775 0.8708 0.9513 0.9282 0.9216 hom 2982.07 90 4 155243573 . C T 2982.07 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6584;MQ=59.02;MQ0=0;QD=33.13;VQSLOD=9.6467;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3015,241,0 4 155243604 155243604 T C exonic DCHS2 nonsynonymous SNV DCHS2:NM_017639:exon13:c.A2690G:p.N897S 0.87 0.67 0.96 0.88 0.98 0.94 0.9440 0.7055 0.9754 0.8693 0.9973 0.9788 0.9648 0.9487 0.89 0.72 0.98 0.8 0.93 rs1352714 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.003 0.349 N 1.000 0.182 P -1.135 0.009 N . . . . . . 0.029 0.010 -0.975 0.362 T 0.000 0.000 T . . . -0.054 0.089 2.099 0.482 0.040 0.135 0.177 N c -0.936 -0.689 0.008 0.116 0.487 0.133 0 2.75 0.313 -0.071 0.114 -0.302 0.080 0.630 0.278 0.987 0.523 6.496 0.212 Cadherin|Cadherin-like . . 0.9503 0.7062 0.9735 0.9544 0.866 0.9963 0.9801 0.9567 0.9501 0.9024 0.7154 0.9594 0.9503 0.8693 0.9971 0.9841 0.9705 hom 2670.31 85 4 155243604 . T C 2670.31 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=57.86;MQ0=0;QD=31.42;VQSLOD=7.5644;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,84:85:99:2703,208,0 4 155256177 155256177 A G exonic DCHS2 synonymous SNV DCHS2:NM_001142552:exon4:c.T2556C:p.G852G,DCHS2:NM_017639:exon8:c.T1059C:p.G353G 0.35 0.34 0.32 0.39 0.31 0.38 0.3455 0.3414 0.3140 0.3896 0.3833 0.3370 0.3764 0.3647 0.33 0.33 0.33 0.36 0.35 rs6858157 COSM1131214;COSM149750 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(prostate);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3431 0.3392 0.3047 0.3040 0.3925 0.3887 0.3353 0.3416 0.3668 0.3456 0.3343 0.3098 0.3278 0.3762 0.4021 0.3383 0.3422 het 1393.11 129 4 155256177 . A G 1393.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.875;DP=129;Dels=0.00;FS=5.470;HRun=0;HaplotypeScore=3.2002;MQ=59.28;MQ0=0;MQRankSum=0.636;QD=10.80;ReadPosRankSum=0.222;VQSLOD=5.1513;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,54:129:99:1423,0,1934 4 155256205 155256205 G A exonic DCHS2 nonsynonymous SNV DCHS2:NM_001142552:exon4:c.C2528T:p.S843L,DCHS2:NM_017639:exon8:c.C1031T:p.S344L 0.99 0.95 1. 1. 1. 1. 0.9954 0.9478 0.9989 1 1 0.9999 0.9989 1 0.98 0.95 1. 0.99 0.95 rs6858712 . . . . . . . . . . . . . 0.408 0.102 T 0.017 0.163 B 0.005 0.104 B 0.075 0.023 N 1 0.090 P -0.14 0.045 N 0.62 0.533 T -0.82 0.225 N 0.04 0.039 -0.983 0.344 T 0.000 0.000 T . . . -0.112 0.083 1.643 0.573 0.056 0.007 0.029 N c -1.286 -1.252 0.003 0.097 0.554 0.246 0 -0.301 0.121 0.216 0.172 -0.149 0.108 0.000 0.063 0.001 0.043 2.441 0.042 Cadherin;Cadherin|Cadherin-like . . 0.9964 0.9470 0.9983 0.9999 1 1 0.9999 0.9982 0.9999 0.9860 0.9518 0.9940 1 1 1 0.9998 0.9959 hom 4159.58 132 4 155256205 . G A 4159.58 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.2854;MQ=58.55;MQ0=0;QD=31.51;VQSLOD=9.1848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4159,322,0 4 155287535 155287535 T C exonic DCHS2 nonsynonymous SNV DCHS2:NM_001142552:exon3:c.A2303G:p.H768R,DCHS2:NM_017639:exon5:c.A521G:p.H174R 0.46 0.39 0.41 0.45 0.49 0.58 0.4597 0.4122 0.3816 0.4447 0.4163 0.4591 0.4577 0.5717 0.45 0.41 0.46 0.49 0.43 rs10017772 COSM4416249;COSM4416250 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.978 0.020 T 0.007 0.131 B 0.003 0.080 B 0.823 0.092 N 1 0.090 P -0.83 0.015 N 0.34 0.582 T 1.04 0.013 N 0.052 0.034 -0.914 0.463 T 0.000 0.000 T . . . -0.369 0.064 0.459 0.314 0.018 0.111 0.162 N c -1.089 -0.973 0.884 0.257 0.554 0.246 0 2.1 0.261 0.068 0.143 1.061 0.807 0.004 0.165 0.101 0.189 5.102 0.140 Cadherin|Cadherin conserved site|Cadherin-like . . 0.4562 0.4096 0.3908 0.4299 0.4455 0.4152 0.4643 0.4550 0.5658 0.4369 0.4149 0.3783 0.4735 0.4553 0.4074 0.4561 0.4509 het 1204.48 116 4 155287535 . T C 1204.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.616;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8143;MQ=58.32;MQ0=0;MQRankSum=-0.198;QD=10.38;ReadPosRankSum=-1.690;VQSLOD=4.5546;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,56:116:99:1234,0,1585 4 155295076 155295076 A G exonic DCHS2 nonsynonymous SNV DCHS2:NM_017639:exon4:c.T458C:p.V153A 0.35 0.14 0.36 0.39 0.49 0.44 0.4061 0.1797 0.3550 0.3812 0.4136 0.4435 0.4229 0.4427 0.36 0.19 0.45 0.4 0.39 rs11721758 COSM5008433 3(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.002 0.063 B 0.386 0.044 N 1 0.090 P 1.1 0.281 L . . . . . . 0.053 0.035 -0.929 0.443 T 0.000 0.000 T . . . 0.082 0.102 3.419 0.843 0.147 0.018 0.055 N c -1.207 -1.293 0.007 0.115 0.487 0.133 0 -2.66 0.057 0.060 0.141 -0.268 0.086 0.001 0.137 0.002 0.062 5.159 0.143 Cadherin|Cadherin-like . . 0.4040 0.1739 0.3569 0.4045 0.3701 0.4117 0.4451 0.4112 0.4320 0.3615 0.1903 0.3518 0.4733 0.3782 0.4073 0.4424 0.4306 het 830.73 88 4 155295076 . A G 830.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.249;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=58.24;MQ0=0;MQRankSum=1.773;QD=9.44;ReadPosRankSum=-0.914;VQSLOD=5.8725;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,38:88:99:861,0,1149 4 155488821 155488821 C T exonic FGB synonymous SNV FGB:NM_001184741:exon4:c.C390T:p.S130S,FGB:NM_005141:exon4:c.C567T:p.S189S 0.15 0.076 0.15 0.22 0.2 0.14 0.1745 0.0910 0.1367 0.2338 0.1748 0.1921 0.1993 0.1497 0.16 0.088 0.19 0.14 0.2 rs6056 . . Benign|Benign not_specified|Afibrinogenemia\x2c_congenital RCV000253184.1|RCV000278745.1 MedGen|MedGen:OMIM:Orphanet CN169374|CN071205:202400:ORPHA98880 Fibrinogen . 12.94 20031577 rs6056 8E-39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1717 0.0903 0.1337 0.2037 0.2301 0.1686 0.1871 0.1925 0.1537 0.1707 0.0899 0.1286 0.1722 0.2357 0.1712 0.2107 0.2035 hom 3966.50 138 4 155488821 . C T 3966.50 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=28.74;VQSLOD=8.7239;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:138:99:3966,322,0 4 155490832 155490832 C T exonic FGB synonymous SNV FGB:NM_001184741:exon7:c.C948T:p.Y316Y,FGB:NM_005141:exon7:c.C1125T:p.Y375Y 0.14 0.019 0.15 0.22 0.2 0.14 0.1692 0.0457 0.1349 0.2319 0.1743 0.1902 0.1982 0.1492 0.14 0.05 0.19 0.12 0.2 rs4681 COSM4415328 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Afibrinogenemia\x2c_congenital RCV000247915.1|RCV000339658.1 MedGen|MedGen:OMIM:Orphanet CN169374|CN071205:202400:ORPHA98880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1676 0.0459 0.1319 0.1828 0.2289 0.1682 0.1869 0.1905 0.1535 0.1586 0.0487 0.1289 0.1656 0.2366 0.1709 0.2104 0.1949 hom 2894.88 94 4 155490832 . C T 2894.88 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.689;DP=94;Dels=0.00;FS=3.557;HRun=0;HaplotypeScore=2.7812;MQ=59.26;MQ0=0;MQRankSum=0.950;QD=30.80;ReadPosRankSum=1.397;VQSLOD=4.3945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,93:94:99:2928,212,0 4 155491759 155491759 G A exonic FGB nonsynonymous SNV FGB:NM_001184741:exon8:c.G1256A:p.R419K,FGB:NM_005141:exon8:c.G1433A:p.R478K 0.15 0.076 0.15 0.22 0.2 0.14 0.1732 0.0905 0.1367 0.2318 0.1744 0.1902 0.1987 0.1497 0.16 0.088 0.19 0.14 0.2 rs4220 COSM4415223 1(breast);1(haematopoietic_and_lymphoid_tissue) other|Benign|Likely benign FIBRINOGEN_BALTIMORE_2|not_specified|Afibrinogenemia\x2c_congenital RCV000017808.1|RCV000244462.1|RCV000285950.1 MedGen|MedGen:OMIM:Orphanet CN169374|CN071205:202400:ORPHA98880 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.559 N 1.000 0.182 P -1.365 0.006 N -1.19 0.784 T 1.4 0.010 N 0.072 0.061 -1.068 0.098 T 0.000 0.000 T . . . -0.687 0.045 0.077 0.557 0.053 0.101 0.155 N c -1.470 -1.278 0.996 0.344 0.554 0.246 0 -2.97 0.052 3.260 0.510 -1.076 0.019 1.000 0.715 0.936 0.409 7.404 0.260 Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain|Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular\x2c subdomain 2 ENSG00000171557.12 Adrenal_Gland 0.1707 0.0904 0.1340 0.1829 0.2287 0.1684 0.1868 0.1920 0.1537 0.1706 0.0899 0.1295 0.16 0.2360 0.1710 0.2107 0.2035 hom 3645.07 107 4 155491759 . G A 3645.07 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=34.07;VQSLOD=10.1368;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3645,280,0 4 155720274 155720274 T C exonic RBM46 synonymous SNV RBM46:NM_001277171:exon4:c.T960C:p.N320N,RBM46:NM_001277173:exon4:c.T960C:p.N320N,RBM46:NM_144979:exon4:c.T960C:p.N320N 0.68 0.92 0.68 0.75 0.42 0.58 0.5310 0.8529 0.7520 0.7447 0.4991 0.4116 0.5374 0.5564 0.56 0.84 0.41 0.78 0.6 rs156502 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5349 0.8565 0.7371 0.4050 0.7428 0.4955 0.4129 0.5038 0.5561 0.5759 0.8525 0.6799 0.3377 0.7230 0.4977 0.4224 0.4867 hom 1411.11 48 4 155720274 . T C 1411.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.144;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.65;MQ0=0;MQRankSum=1.660;QD=29.40;ReadPosRankSum=0.866;VQSLOD=8.0170;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,47:48:89.93:1444,90,0 4 156135676 156135676 C T exonic NPY2R synonymous SNV NPY2R:NM_000910:exon2:c.C585T:p.I195I 0.7 0.94 0.5 0.81 0.54 0.56 0.5864 0.8852 0.4555 0.7995 0.6247 0.5374 0.5584 0.5626 0.65 0.87 0.53 0.73 0.6 rs1047214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5766 0.8890 0.4568 0.4829 0.7978 0.6285 0.5391 0.5520 0.5608 0.6689 0.8818 0.4772 0.4735 0.8021 0.6193 0.5624 0.5821 hom 7115.16 220 4 156135676 . C T 7115.16 Mask AC=2;AF=1.00;AN=2;DP=220;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.3375;MQ=58.51;MQ0=0;QD=32.34;VQSLOD=4.7220;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:7114,557,0 4 156136027 156136027 C T exonic NPY2R synonymous SNV NPY2R:NM_000910:exon2:c.C936T:p.I312I 0.66 0.82 0.49 0.76 0.54 0.56 0.5734 0.7785 0.4500 0.7542 0.6238 0.5372 0.5487 0.5628 0.61 0.77 0.53 0.69 0.61 rs2880415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5651 0.7807 0.4507 0.4834 0.7531 0.6277 0.5388 0.5446 0.5560 0.6357 0.7751 0.4712 0.4735 0.7571 0.6191 0.5618 0.5736 hom 5088.15 155 4 156136027 . C T 5088.15 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8884;MQ=59.49;MQ0=0;QD=32.83;VQSLOD=9.4885;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:5088,400,0 4 156273768 156273768 T C exonic MAP9 nonsynonymous SNV MAP9:NM_001039580:exon13:c.A1801G:p.N601D 0.65 0.78 0.53 0.79 0.56 0.52 0.5792 0.7341 0.5130 0.8072 0.7050 0.5413 0.5969 0.5103 0.59 0.72 0.53 0.63 0.56 rs2305050 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.589 0.111 N 1 0.090 P -0.895 0.014 N 2.36 0.164 T -0.02 0.095 N 0.003 0.067 -1.013 0.259 T 0.000 0.000 T . . . 0.507 0.143 7.487 0.733 0.099 0.010 0.038 N c -1.376 -1.209 0.097 0.163 0.638 0.428 0 0.287 0.149 0.108 0.151 -2.092 0.004 0.000 0.063 0.789 0.333 9.443 0.377 . ENSG00000164114.14|ENSG00000250910.3|ENSG00000164114.14|ENSG00000164114.14|ENSG00000250910.3 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Nerve_Tibial|Testis 0.5785 0.7363 0.5174 0.4738 0.8082 0.7153 0.539 0.5663 0.5085 0.6331 0.7284 0.5036 0.4868 0.7969 0.7083 0.5560 0.5801 hom 1586.48 50 4 156273768 . T C 1586.48 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=31.73;VQSLOD=9.3563;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1619,126,0 4 156274377 156274377 T C exonic MAP9 nonsynonymous SNV MAP9:NM_001039580:exon11:c.A1496G:p.K499R 0.41 0.61 0.32 0.59 0.22 0.2 0.2947 0.5437 0.3187 0.5955 0.3431 0.2304 0.2772 0.2048 0.32 0.53 0.22 0.4 0.21 rs1058992 COSM1131208 2(prostate);1(large_intestine) . . . . . . . . . . . 0.22 0.189 T 0.169 0.321 B 0.091 0.319 B 0.014 0.285 N 0.968 0.258 P 1.69 0.435 L 2.98 0.094 T -0.32 0.156 N 0.028 0.040 -1.031 0.201 T 0.000 0.000 T . . . 1.136 0.203 11.41 0.984 0.408 0.528 0.290 D c -0.168 -0.071 0.692 0.226 0.638 0.428 0 4.05 0.462 0.122 0.154 1.061 0.807 0.319 0.253 0.997 0.653 8.684 0.332 . ENSG00000250910.3 Testis 0.2926 0.5508 0.3198 0.2367 0.5945 0.3428 0.2236 0.2648 0.2025 0.3542 0.5405 0.2974 0.2119 0.5918 0.3451 0.2344 0.2634 het 859.78 69 4 156274377 . T C 859.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.054;DP=69;Dels=0.00;FS=2.002;HRun=1;HaplotypeScore=0.8321;MQ=58.76;MQ0=0;MQRankSum=0.858;QD=12.46;ReadPosRankSum=-1.134;VQSLOD=5.9462;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,34:69:99:890,0,970 4 156276289 156276289 C T exonic MAP9 synonymous SNV MAP9:NM_001039580:exon10:c.G1314A:p.V438V 0.74 0.95 0.55 0.93 0.56 0.57 0.5998 0.8984 0.5011 0.9087 0.6977 0.5321 0.5990 0.5542 0.66 0.89 0.54 0.66 0.24 rs2341894 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5790 0.8961 0.4659 0.4856 0.9041 0.7153 0.5173 0.5418 0.5359 0.6981 0.9031 0.5228 0.5166 0.9190 0.7141 0.5707 0.6025 hom 1085.31 41 4 156276289 . C T 1085.31 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.47;VQSLOD=12.3195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:84.27:1118,84,0 4 156289900 156289900 C T exonic MAP9 synonymous SNV MAP9:NM_001039580:exon5:c.G546A:p.L182L 0.37 0.16 0.4 0.64 0.35 0.36 0.3594 0.1826 0.4226 0.6345 0.4660 0.3312 0.3998 0.3515 0.28 0.18 0.32 0.32 0.41 rs3733390 COSM3760453 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3680 0.1784 0.4155 0.2426 0.6325 0.4816 0.3327 0.3626 0.3496 0.3263 0.1792 0.3935 0.2881 0.6108 0.4774 0.3410 0.3561 het 1534.10 180 4 156289900 . C T 1534.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.594;DP=180;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=2.5165;MQ=59.54;MQ0=0;MQRankSum=-0.024;QD=8.52;ReadPosRankSum=-0.674;VQSLOD=6.1941;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,69:180:99:1564,0,3066 4 156289917 156289917 G A exonic MAP9 nonsynonymous SNV MAP9:NM_001039580:exon5:c.C529T:p.R177W 0.17 0.02 0.13 0.21 0.24 0.29 0.2074 0.0484 0.1399 0.2087 0.3235 0.2156 0.2247 0.2738 0.15 0.051 0.21 0.16 0.32 rs3733391 COSM1428168 2(haematopoietic_and_lymphoid_tissue);2(prostate);1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . 0.066 0.405 T 0.035 0.249 B 0.006 0.145 B 0.736 0.098 N 0.780 0.347 P 1.975 0.537 M 1.92 0.405 T -3.83 0.889 D 0.098 0.312 -1.088 0.059 T 0.000 0.000 T . . . 3.580 0.488 23.2 0.981 0.378 0.805 0.398 D c -0.180 -0.096 0.014 0.125 0.638 0.428 0 3.12 0.348 2.991 0.488 0.897 0.411 0.998 0.411 0.997 0.653 6.310 0.202 . . . 0.2092 0.0434 0.1394 0.1556 0.2106 0.3305 0.2164 0.2040 0.2711 0.1882 0.0471 0.1411 0.1887 0.2 0.3230 0.2364 0.2469 het 1626.46 179 4 156289917 . G A 1626.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.295;DP=179;Dels=0.00;FS=3.783;HRun=1;HaplotypeScore=5.6357;MQ=59.32;MQ0=0;MQRankSum=1.124;QD=9.09;ReadPosRankSum=-0.921;VQSLOD=4.5092;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,68:179:99:1656,0,2799 4 156632391 156632391 A G exonic GUCY1A3 synonymous SNV GUCY1A3:NM_001130684:exon5:c.A1074G:p.K358K,GUCY1A3:NM_001130682:exon6:c.A1074G:p.K358K,GUCY1A3:NM_001130683:exon6:c.A1074G:p.K358K,GUCY1A3:NM_001130685:exon6:c.A369G:p.K123K,GUCY1A3:NM_001130687:exon6:c.A1074G:p.K358K,GUCY1A3:NM_001256449:exon6:c.A1074G:p.K358K,GUCY1A3:NM_000856:exon7:c.A1074G:p.K358K 0.98 0.94 0.99 1. 0.99 1. 0.9863 0.9440 0.9938 1 0.9926 0.9859 0.9922 0.9984 0.97 0.95 0.99 0.94 0.97 rs11944673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9871 0.9473 0.9913 0.9867 1 0.9928 0.9850 0.9895 0.9982 0.9755 0.9426 0.9857 0.9934 1 0.9943 0.9856 0.9929 hom 2395.18 74 4 156632391 . A G 2395.18 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=32.37;VQSLOD=9.8915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2428,190,0 4 156721098 156721098 G A exonic GUCY1B3 synonymous SNV GUCY1B3:NM_001291955:exon8:c.G843A:p.T281T,GUCY1B3:NM_000857:exon9:c.G1047A:p.T349T,GUCY1B3:NM_001291954:exon9:c.G1047A:p.T349T,GUCY1B3:NM_001291951:exon10:c.G1113A:p.T371T,GUCY1B3:NM_001291952:exon10:c.G987A:p.T329T,GUCY1B3:NM_001291953:exon10:c.G843A:p.T281T 0.034 0.0015 0.042 0.018 0.052 0.073 0.0371 0.0055 0.0225 0.0357 0.0098 0.0399 0.0567 0.0653 0.027 0.0068 0.037 0.054 . rs17854507 COSM1428186 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0366 0.0058 0.0245 0.0952 0.0344 0.0105 0.0364 0.0471 0.0648 0.0212 0.0052 0.0322 0.09 0.0340 0.0072 0.0305 0.0204 het 2469.55 167 4 156721098 . G A 2469.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.144;DP=167;Dels=0.00;FS=8.272;HRun=0;HaplotypeScore=3.7003;MQ=59.78;MQ0=0;MQRankSum=0.229;QD=14.79;ReadPosRankSum=-1.146;VQSLOD=4.2435;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,98:167:99:2500,0,1797 4 156787340 156787340 G A exonic ASIC5 synonymous SNV ASIC5:NM_017419:exon1:c.C39T:p.N13N 0.85 0.57 0.92 0.96 0.95 0.95 0.9165 0.6178 0.9284 0.9578 0.9535 0.9470 0.9240 0.9363 0.84 0.63 0.94 0.72 0.89 rs6848883 COSM1131206 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9232 0.6142 0.9329 0.9453 0.9598 0.9550 0.9451 0.9293 0.9347 0.8528 0.6231 0.9332 0.9503 0.9509 0.9582 0.9407 0.9150 hom 2778.42 97 4 156787340 . G A 2778.42 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.70;MQ0=0;QD=28.64;VQSLOD=8.5344;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2811,214,0 4 158065038 158065038 T C exonic GLRB synonymous SNV GLRB:NM_000824:exon8:c.T831C:p.T277T,GLRB:NM_001166060:exon8:c.T831C:p.T277T,GLRB:NM_001166061:exon8:c.T831C:p.T277T 0.98 0.93 0.99 1. 1. 1. 0.9937 0.9316 0.9975 1 1 0.9998 0.9989 0.9999 0.98 0.94 1. 0.97 1. rs12507409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9950 0.9279 0.9973 1 1 1 0.9997 0.9980 1.0000 0.9810 0.9332 0.9988 1 1 1 0.9999 0.9980 hom 4479.88 132 4 158065038 . T C 4479.88 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8148;MQ=59.19;MQ0=0;QD=33.94;VQSLOD=8.7332;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4479,352,0 4 158238830 158238830 T C exonic GRIA2 synonymous SNV GRIA2:NM_000826:exon5:c.T687C:p.H229H,GRIA2:NM_001083619:exon5:c.T687C:p.H229H,GRIA2:NM_001083620:exon5:c.T546C:p.H182H 0.66 0.48 0.76 0.79 0.63 0.73 0.6761 0.5180 0.8108 0.8160 0.6480 0.6463 0.6383 0.7322 0.6 0.51 0.65 0.66 0.43 rs4302506 COSM1131203;COSM1131202 1(urinary_tract);1(prostate);1(thymus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6737 0.4982 0.7951 0.6506 0.8144 0.6420 0.6378 0.6443 0.7220 0.6272 0.5129 0.7711 0.6358 0.8201 0.6369 0.6591 0.6802 hom 2177.49 80 4 158238830 . T C 2177.49 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;QD=27.22;VQSLOD=7.8188;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2210,166,0 4 159076826 159076826 C T exonic FAM198B synonymous SNV FAM198B:NM_001128424:exon3:c.G1062A:p.S354S,FAM198B:NM_016613:exon3:c.G1062A:p.S354S,FAM198B:NM_001031700:exon4:c.G1086A:p.S362S 0.77 0.51 0.86 0.95 0.85 0.81 0.8316 0.5533 0.9272 0.9514 0.8370 0.8411 0.8304 0.8370 0.75 0.56 0.84 0.76 0.77 rs6830702 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8400 0.5504 0.9153 0.7793 0.9532 0.8363 0.8462 0.8423 0.8380 0.7777 0.5587 0.8914 0.7848 0.9474 0.8419 0.8604 0.8493 hom 2228.75 72 4 159076826 . C T 2228.75 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=58.98;MQ0=0;QD=30.95;VQSLOD=9.5801;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2262,175,0 4 159601676 159601676 C T exonic ETFDH nonsynonymous SNV ETFDH:NM_004453:exon2:c.C92T:p.T31I 0.67 0.15 0.74 0.97 0.86 0.83 0.8119 0.2352 0.7328 0.9750 0.9341 0.8665 0.8546 0.8729 0.66 0.26 0.86 0.6 0.81 rs11559290 COSM4158888 1(thyroid) Benign|Benign not_specified|Glutaric_aciduria\x2c_type_2 RCV000081080.4|RCV000355141.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268596:231680:ORPHA26791:22886006 . . . . . . 0.274 0.158 T 0.0 0.026 B 0.005 0.104 B 0.015 0.285 N 0.964 0.588 P 1.1 0.281 L -4.33 0.972 D -0.73 0.206 N 0.079 0.071 -0.906 0.474 T 0.000 0.000 T . . . 2.025 0.304 16.37 0.976 0.342 0.836 0.424 D c -0.338 -0.164 0.999 0.396 0.706 0.609 0 5.63 0.861 1.101 0.304 0.888 0.391 0.387 0.258 0.383 0.251 8.929 0.346 . ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171497.4|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7|ENSG00000171503.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial|Ovary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Uterus 0.8207 0.2314 0.7291 0.8728 0.9755 0.9331 0.8641 0.8335 0.8691 0.7066 0.2434 0.7309 0.8676 0.9802 0.9281 0.8808 0.8517 het 1513.07 125 4 159601676 . C T 1513.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.922;DP=125;Dels=0.00;FS=2.447;HRun=0;HaplotypeScore=4.8907;MQ=59.07;MQ0=0;MQRankSum=2.397;QD=12.10;ReadPosRankSum=-0.161;VQSLOD=4.9363;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,57:125:99:1543,0,1865 4 159631991 159631991 G T exonic PPID nonsynonymous SNV PPID:NM_005038:exon8:c.C904A:p.L302I 0.26 0.37 0.14 0.12 0.29 0.32 0.2700 0.3731 0.1186 0.1322 0.2508 0.2935 0.2472 0.2974 0.33 0.38 0.3 0.3 0.2 rs9410 COSM3760457 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.531 0.070 T 0.0 0.026 B 0.003 0.080 B 0.109 0.195 N 0.997 0.229 P 0.455 0.128 N -0.18 0.658 T 0.44 0.033 N 0.049 0.030 -0.960 0.392 T 0.000 0.000 T . . . 2.182 0.323 17.39 0.835 0.142 0.500 0.283 N c -0.795 -0.627 0.966 0.288 0.719 0.830 0 1.47 0.217 1.260 0.324 -0.207 0.101 1.000 0.715 0.990 0.544 9.251 0.365 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain ENSG00000171497.4|ENSG00000271817.1|ENSG00000271817.1|ENSG00000171497.4|ENSG00000171503.7|ENSG00000271817.1|ENSG00000271817.1|ENSG00000171503.7|ENSG00000271817.1|ENSG00000171497.4|ENSG00000271817.1|ENSG00000171497.4|ENSG00000171497.4|ENSG00000271817.1|ENSG00000171497.4|ENSG00000271817.1|ENSG00000171503.7|ENSG00000171497.4|ENSG00000171503.7|ENSG00000271817.1|ENSG00000171503.7|ENSG00000171497.4|ENSG00000271817.1|ENSG00000271817.1|ENSG00000171497.4|ENSG00000271817.1|ENSG00000171497.4|ENSG00000271817.1|ENSG00000271817.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.2602 0.3742 0.1309 0.2742 0.1295 0.2555 0.2948 0.2476 0.2936 0.2913 0.3758 0.1587 0.2417 0.1088 0.2639 0.2788 0.2582 het 1185.18 123 4 159631991 . G T 1185.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.342;DP=123;Dels=0.00;FS=13.141;HRun=2;HaplotypeScore=2.7648;MQ=58.90;MQ0=0;MQRankSum=1.273;QD=9.64;ReadPosRankSum=0.901;VQSLOD=3.9176;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,45:123:99:1215,0,1895 4 159881479 159881479 T C exonic C4orf45 synonymous SNV C4orf45:NM_152543:exon3:c.A315G:p.Q105Q 0.2 0.12 0.2 0.24 0.27 0.2 0.2478 0.1404 0.1861 0.2359 0.2740 0.2839 0.2626 0.2022 0.24 0.13 0.29 0.26 . rs9784569 COSM3760464 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2409 0.1327 0.1790 0.2487 0.2278 0.2693 0.2807 0.2570 0.1944 0.2430 0.1453 0.2220 0.27 0.2488 0.2628 0.2944 0.2587 het 364.71 34 4 159881479 . T C 364.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.659;DP=34;Dels=0.00;FS=7.319;HRun=1;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=-0.798;QD=10.73;ReadPosRankSum=-1.145;VQSLOD=4.5976;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,15:34:99:395,0,549 4 159894250 159894250 C T exonic C4orf45 nonsynonymous SNV C4orf45:NM_152543:exon2:c.G278A:p.G93E 0.98 0.93 0.99 1. 1. 1. 0.9934 0.9312 0.9961 1 1 0.9991 0.9966 0.9993 0.98 0.93 1. 0.99 . rs619128 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.804 0.068 N 1 0.090 P -1.95 0.002 N 2.67 0.125 T 3.26 0.001 N 0.026 0.008 -1.031 0.201 T 0.000 0.000 T . . . -1.283 0.023 0.005 0.361 0.023 0.001 0.008 N c -1.772 -1.661 0.008 0.116 0.487 0.133 0 0.268 0.148 -0.341 0.078 -1.694 0.008 0.000 0.063 0.005 0.090 4.688 0.121 . . . 0.9944 0.9298 0.9958 0.9980 1 1 0.9992 0.9943 0.9994 0.9810 0.9351 0.9976 1 1 1 0.9990 0.9949 hom 475.35 17 4 159894250 . C T 475.35 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.17;MQ0=0;QD=27.96;VQSLOD=8.2533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.12:508,39,0 4 159894277 159894277 T C exonic C4orf45 nonsynonymous SNV C4orf45:NM_152543:exon2:c.A251G:p.Y84C 0.083 0.083 0.027 0.22 0.034 0.031 0.0463 0.0665 0.0255 0.2059 0.0770 0.0254 0.0508 0.0371 0.04 0.06 0.031 0.087 . rs17037858 . . . . . . . . . . . . . 0.014 0.531 D 0.019 0.167 B 0.015 0.162 B 0.071 0.215 N 1 0.090 P 1.445 0.365 L 2.28 0.173 T -5.35 0.847 D 0.187 0.228 -1.028 0.211 T 0.000 0.000 T . . . 0.852 0.175 9.783 0.924 0.212 0.022 0.064 N c -0.638 -0.652 0.011 0.122 0.487 0.133 0 1.65 0.229 -0.167 0.098 0.081 0.190 0.000 0.063 0.609 0.290 3.275 0.064 . . . 0.0475 0.0655 0.0310 0.0392 0.2065 0.0780 0.0237 0.0404 0.0357 0.0517 0.0648 0.0310 0.0298 0.2132 0.0745 0.0238 0.0377 het 304.46 26 4 159894277 . T C 304.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.605;DP=26;Dels=0.00;FS=1.580;HRun=0;HaplotypeScore=1.9924;MQ=54.39;MQ0=0;MQRankSum=-1.006;QD=11.71;ReadPosRankSum=-0.190;VQSLOD=2.5882;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,13:26:99:334,0,295 4 159894305 159894305 T C exonic C4orf45 nonsynonymous SNV C4orf45:NM_152543:exon2:c.A223G:p.S75G 0.98 0.93 0.99 1. 1. 1. 0.9946 0.9448 0.9972 1 1 0.9990 0.9978 0.9993 0.98 0.95 1. 0.99 . rs662473 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.396 N 1 0.090 P -2.585 0.000 N 2.84 0.107 T 5.24 0.000 N 0.074 0.064 -0.976 0.359 T 0.000 0.000 T . . . -0.939 0.034 0.021 0.188 0.006 0.002 0.011 N c -1.205 -1.018 0.212 0.183 0.487 0.133 0 4.84 0.620 0.389 0.203 -0.520 0.050 0.001 0.137 0.003 0.074 7.756 0.279 . . . 0.9953 0.9426 0.9966 0.9981 1 1 0.9991 0.9949 0.9994 0.9838 0.9451 0.9976 1 1 0.9997 0.9990 0.9949 hom 666.38 25 4 159894305 . T C 666.38 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.54;MQ0=0;QD=26.66;VQSLOD=8.2698;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:25:54.17:699,54,0 4 159894391 159894391 G A exonic C4orf45 nonsynonymous SNV C4orf45:NM_152543:exon2:c.C137T:p.A46V 0.15 . 0.059 0.33 0.13 0.27 0.1458 0.0235 0.0804 0.3540 0.1568 0.1198 0.1273 0.2564 0.093 0.029 0.12 0.14 . rs17037864 COSM4002983 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.232 0.182 T 0.009 0.139 B 0.003 0.080 B 0.823 0.069 N 1 0.090 P 0.58 0.154 N 2.45 0.150 T -2.01 0.463 N 0.035 0.015 -0.906 0.473 T 0.000 0.000 T . . . -0.448 0.059 0.296 0.769 0.113 0.009 0.036 N c -1.320 -1.394 0.149 0.174 0.487 0.133 0 -4.88 0.029 -0.726 0.050 -1.074 0.019 0.000 0.063 0.020 0.134 7.175 0.248 . . . 0.1421 0.0228 0.0762 0.0421 0.3520 0.1548 0.1231 0.1146 0.2527 0.1078 0.0247 0.0863 0.0199 0.3864 0.1553 0.1175 0.1163 het 675.68 41 4 159894391 . G A 675.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.826;DP=41;Dels=0.00;FS=4.815;HRun=0;HaplotypeScore=0.0000;MQ=57.46;MQ0=0;MQRankSum=0.501;QD=16.48;ReadPosRankSum=0.474;VQSLOD=4.2534;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,26:41:99:706,0,345 4 160277276 160277276 C T exonic RAPGEF2 synonymous SNV RAPGEF2:NM_014247:exon23:c.C4440T:p.P1480P,RAPGEF2:NM_001351727:exon24:c.C4515T:p.P1505P,RAPGEF2:NM_001351728:exon24:c.C4563T:p.P1521P,RAPGEF2:NM_001351725:exon26:c.C4575T:p.P1525P,RAPGEF2:NM_001351726:exon26:c.C4575T:p.P1525P,RAPGEF2:NM_001351724:exon30:c.C4998T:p.P1666P 0.35 0.24 0.55 0.098 0.55 0.42 0.4918 0.2715 0.5458 0.0680 0.5274 0.5832 0.4699 0.4232 0.48 0.26 0.58 0.36 0.5 rs1135004 COSM4158892 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4942 0.2662 0.5394 0.4616 0.0680 0.5343 0.5929 0.5068 0.4209 0.4695 0.2692 0.5107 0.4470 0.0821 0.5246 0.6109 0.5082 het 1088.87 75 4 160277276 . C T 1088.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.730;DP=75;Dels=0.00;FS=0.912;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=0.450;QD=14.52;ReadPosRankSum=-0.418;VQSLOD=6.2061;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:1119,0,971 4 162307312 162307312 C A exonic FSTL5 nonsynonymous SNV FSTL5:NM_001128428:exon15:c.G2101T:p.D701Y,FSTL5:NM_001128427:exon16:c.G2128T:p.D710Y,FSTL5:NM_020116:exon16:c.G2131T:p.D711Y 0.091 0.063 0.12 0.07 0.12 0.099 0.1085 0.0658 0.1531 0.0612 0.2002 0.1056 0.1134 0.1037 0.087 0.067 0.097 0.11 0.041 rs3749598 . . . . . . . . . . . . . 0.012 0.555 D 1.0 0.899 D 0.976 0.719 D 0.000 0.843 D 0.000 0.588 P 2.44 0.710 M 1.6 0.286 T -3.13 0.639 D 0.318 0.806 -1.046 0.156 T 0.003 0.010 T . . . 4.897 0.658 24.9 0.994 0.617 0.975 0.752 D c 0.341 0.250 0.028 0.138 0.554 0.246 0 3.98 0.452 4.612 0.606 0.935 0.490 1.000 0.715 0.936 0.409 11.527 0.497 WD40/YVTN repeat-like-containing domain . . 0.1120 0.0652 0.1486 0.0677 0.0624 0.1999 0.1035 0.1118 0.1044 0.1132 0.0644 0.1325 0.07 0.0562 0.1996 0.1249 0.1503 het 1676.91 124 4 162307312 . C A 1676.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.594;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7187;MQ=58.57;MQ0=1;MQRankSum=0.347;QD=13.52;ReadPosRankSum=-0.534;VQSLOD=5.6597;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,65:124:99:1707,0,1582 4 164085425 164085425 T C exonic NAF1 nonsynonymous SNV NAF1:NM_001128931:exon2:c.A484G:p.I162V,NAF1:NM_138386:exon2:c.A484G:p.I162V 0.79 0.79 0.78 0.79 0.76 0.84 0.7961 0.7812 0.7792 0.7912 0.8167 0.7866 0.8060 0.8489 0.77 0.78 0.77 0.8 0.62 rs4691896 COSM5002604;COSM5002605 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.292 0.039 N 1 0.090 P -1.65 0.004 N 1.59 0.288 T 0.3 0.042 N 0.004 0.000 -0.983 0.344 T 0.000 0.000 T . . . -1.597 0.015 0.002 0.318 0.018 0.004 0.021 N c -1.424 -1.292 1.000 0.458 0.660 0.490 0 -0.137 0.128 -0.735 0.050 -2.889 0.002 0.063 0.217 0.740 0.319 1.487 0.023 . ENSG00000145414.4|ENSG00000250027.1|ENSG00000250027.1|ENSG00000145414.4 Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.7899 0.7761 0.7841 0.7612 0.7854 0.8192 0.7764 0.7775 0.8493 0.7767 0.7672 0.8022 0.7219 0.7860 0.8148 0.7713 0.7894 het 690.65 65 4 164085425 . T C 690.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.516;DP=65;Dels=0.00;FS=0.966;HRun=0;HaplotypeScore=0.9159;MQ=59.43;MQ0=0;MQRankSum=1.201;QD=10.63;ReadPosRankSum=0.912;VQSLOD=6.5673;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,32:65:99:721,0,883 4 164393117 164393117 T A exonic TKTL2 nonsynonymous SNV TKTL2:NM_032136:exon1:c.A1770T:p.Q590H 0.17 0.14 0.078 0.29 0.19 0.13 0.1708 0.1536 0.0635 0.2951 0.1254 0.1834 0.1606 0.1582 0.18 0.16 0.18 0.12 0.11 rs11735477 COSM1131191 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.683 0.044 T 0.009 0.139 B 0.012 0.149 B 0.008 0.309 N 1 0.090 P -1.115 0.009 N -2.76 0.909 D 1.13 0.012 N 0.071 0.059 -1.089 0.056 T 0.000 0.000 T . . . -0.239 0.073 0.906 0.292 0.015 0.020 0.060 N c -1.162 -1.108 0.122 0.169 0.487 0.133 0 -1.18 0.091 -0.532 0.062 -0.962 0.024 0.001 0.137 0.601 0.289 2.006 0.032 Transketolase\x2c C-terminal/Pyruvate-ferredoxin oxidoreductase\x2c domain II ENSG00000198498.5|ENSG00000145416.9|ENSG00000273449.1|ENSG00000198498.5 Cells_Transformed_fibroblasts|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis 0.1589 0.1542 0.0679 0.0847 0.3009 0.1216 0.1839 0.1406 0.1433 0.1676 0.1534 0.1038 0.0762 0.3033 0.1232 0.1778 0.1544 het 2127.09 151 4 164393117 . T A 2127.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.793;DP=151;Dels=0.00;FS=0.597;HRun=0;HaplotypeScore=3.4232;MQ=58.83;MQ0=0;MQRankSum=-0.432;QD=14.09;ReadPosRankSum=-0.564;VQSLOD=6.0794;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,77:151:99:2157,0,1922 4 164435265 164435265 A C exonic TMA16 nonsynonymous SNV TMA16:NM_018352:exon4:c.A194C:p.Q65P 0.38 0.25 0.6 0.34 0.47 0.35 0.4516 0.2746 0.6805 0.3263 0.5309 0.4708 0.4308 0.3520 0.41 0.27 0.47 0.4 0.54 rs2304802 COSM149752 3(haematopoietic_and_lymphoid_tissue);1(stomach);1(urinary_tract);2(prostate);2(large_intestine) . . . . . . . . . . . 0.362 0.130 T 0.0 0.026 B 0.001 0.040 B 0.434 0.127 N 1 0.090 P -0.11 0.046 N 1.53 0.304 T -2.01 0.463 N 0.135 0.459 -0.955 0.400 T 0.000 0.000 T . . . 0.497 0.142 7.408 0.801 0.126 0.172 0.195 N c -0.681 -0.648 1.000 0.480 0.722 0.854 0 2.96 0.332 1.441 0.344 1.199 0.960 0.001 0.137 0.168 0.210 8.714 0.334 . ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood 0.4599 0.2687 0.6610 0.3957 0.3221 0.5314 0.4720 0.4670 0.3418 0.4236 0.2700 0.6361 0.4470 0.3007 0.5230 0.4868 0.4826 het 1908.22 139 4 164435265 . A C 1908.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.477;DP=139;Dels=0.00;FS=3.033;HRun=4;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;MQRankSum=0.196;QD=13.73;ReadPosRankSum=-0.027;VQSLOD=5.9892;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,75:139:99:1938,0,1568 4 164440581 164440581 T C exonic TMA16 nonsynonymous SNV TMA16:NM_018352:exon7:c.T527C:p.I176T 0.38 0.25 0.61 0.34 0.47 0.35 0.4533 0.2769 0.6814 0.3274 0.5325 0.4734 0.4326 0.3522 0.42 0.28 0.48 0.4 0.41 rs1561736 COSM149753 1(haematopoietic_and_lymphoid_tissue);1(stomach);4(prostate);2(large_intestine) . . . . . . . . . . . 0.763 0.034 T 0.0 0.026 B 0.001 0.040 B 0.398 0.045 N 1 0.090 P 0.755 0.192 N 1.99 0.217 T 1.11 0.012 N 0.051 0.297 -0.929 0.443 T 0.000 0.000 T . . . -1.132 0.027 0.009 0.527 0.047 0.099 0.154 N c -1.135 -1.167 0.038 0.144 0.732 0.924 0 -0.516 0.113 -0.892 0.042 1.061 0.807 0.000 0.063 0.008 0.104 3.462 0.070 . ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000198498.5|ENSG00000273449.1|ENSG00000145416.9|ENSG00000273449.1|ENSG00000145416.9|ENSG00000145416.9|ENSG00000273449.1|ENSG00000273449.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood 0.4589 0.2687 0.6587 0.3967 0.3198 0.5313 0.4718 0.4634 0.3371 0.4238 0.2716 0.6304 0.4470 0.3017 0.5235 0.4865 0.4847 het 772.36 50 4 164440581 . T C 772.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.040;DP=50;Dels=0.00;FS=11.048;HRun=0;HaplotypeScore=0.7340;MQ=59.13;MQ0=0;MQRankSum=0.802;QD=15.45;ReadPosRankSum=1.594;VQSLOD=3.5041;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,30:50:99:802,0,533 4 164466824 164466824 C T exonic MARCH1 synonymous SNV MARCH1:NM_017923:exon3:c.G444A:p.A148A,MARCH1:NM_001166373:exon7:c.G495A:p.A165A 0.39 0.28 0.6 0.35 0.46 0.34 0.4437 0.2843 0.6775 0.3316 0.5287 0.4602 0.4229 0.3393 0.41 0.28 0.47 0.39 0.52 rs13130399 COSM149754;COSM4002986 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4564 0.2820 0.6585 0.4001 0.3274 0.5310 0.4625 0.4604 0.3370 0.4224 0.2811 0.6325 0.4536 0.3017 0.5235 0.4778 0.4806 het 2571.49 182 4 164466824 . C T 2571.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.959;DP=182;Dels=0.00;FS=3.418;HRun=1;HaplotypeScore=7.7658;MQ=59.30;MQ0=0;MQRankSum=-0.145;QD=14.13;ReadPosRankSum=0.869;VQSLOD=4.6683;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,96:182:99:2601,0,2281 4 165878609 165878609 T A exonic FAM218A synonymous SNV FAM218A:NM_153027:exon1:c.T435A:p.S145S 0.24 0.21 0.35 0.094 0.31 0.28 0.2850 0.2253 0.3695 0.0890 0.2083 0.3050 0.3057 0.3151 0.29 0.23 0.32 0.26 0.29 rs3196673 COSM4002987 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2889 0.2258 0.3666 0.3832 0.0858 0.2085 0.3056 0.3164 0.3122 0.2541 0.2244 0.3885 0.4106 0.0939 0.2119 0.2873 0.2617 het 1605.48 110 4 165878609 . T A 1605.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.536;DP=110;Dels=0.00;FS=2.675;HRun=0;HaplotypeScore=5.4275;MQ=58.24;MQ0=0;MQRankSum=0.105;QD=14.60;ReadPosRankSum=-0.759;VQSLOD=4.1332;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,60:110:99:1635,0,1452 4 166021811 166021811 G C exonic TMEM192 synonymous SNV TMEM192:NM_001100389:exon3:c.C408G:p.L136L 0.35 0.63 0.23 0.37 0.19 0.21 0.2595 0.5640 0.2302 0.3446 0.2309 0.2195 0.2472 0.2287 0.32 0.53 0.22 0.37 0.37 rs6536890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2545 0.5706 0.2208 0.2944 0.3404 0.2319 0.2156 0.2389 0.2333 0.3256 0.5627 0.2518 0.3079 0.3360 0.2390 0.2170 0.2403 het 975.07 90 4 166021811 . G C 975.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.275;DP=90;Dels=0.00;FS=2.913;HRun=0;HaplotypeScore=0.9789;MQ=59.74;MQ0=0;MQRankSum=-1.361;QD=10.83;ReadPosRankSum=0.008;VQSLOD=5.8169;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,41:90:99:1005,0,1479 4 166929102 166929102 G A exonic TLL1 synonymous SNV TLL1:NM_001204760:exon7:c.G819A:p.E273E,TLL1:NM_012464:exon7:c.G819A:p.E273E 0.052 0.045 0.053 0.088 0.043 0.033 0.0357 0.0426 0.0362 0.0651 0.0349 0.0301 0.0353 0.0390 0.034 0.042 0.03 0.054 0.025 rs17590218 COSM1131188 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0360 0.0422 0.0358 0.0416 0.0634 0.0325 0.0305 0.0350 0.0383 0.0361 0.0406 0.0396 0.0364 0.0631 0.0349 0.0307 0.0378 het 333.07 36 4 166929102 . G A 333.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.290;DP=36;Dels=0.00;FS=1.619;HRun=1;HaplotypeScore=0.0000;MQ=55.35;MQ0=0;MQRankSum=-0.290;QD=9.25;ReadPosRankSum=0.324;VQSLOD=2.6082;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,14:36:99:363,0,578 4 167012381 167012381 G A exonic TLL1 synonymous SNV TLL1:NM_012464:exon19:c.G2544A:p.L848L 0.91 0.75 0.95 1. 0.97 0.93 0.9510 0.7744 0.9735 0.9969 0.9879 0.9657 0.9558 0.9489 0.9 0.78 0.97 0.88 0.95 rs2654492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9545 0.7665 0.9697 0.9306 0.9961 0.9834 0.9665 0.9566 0.9509 0.9158 0.7786 0.9581 0.9272 0.9937 0.9857 0.9656 0.9582 hom 1896.40 64 4 167012381 . G A 1896.40 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=57.41;MQ0=0;QD=29.63;VQSLOD=6.9380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1929,156,0 4 167012480 167012480 T C exonic TLL1 synonymous SNV TLL1:NM_012464:exon19:c.T2643C:p.A881A 0.97 0.89 0.99 1. 1. 1. 0.9920 0.9116 0.9968 1 1 0.9999 1 0.9999 0.97 0.92 1. 0.95 0.98 rs2646914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9937 0.9097 0.9960 1 1 1 0.9999 0.9976 0.9999 0.9744 0.9111 0.9928 1 1 1 0.9999 0.9929 hom 1498.57 52 4 167012480 . T C 1498.57 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=28.82;VQSLOD=7.6764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1532,114,0 4 167656073 167656073 C T exonic SPOCK3 synonymous SNV SPOCK3:NM_001251967:exon8:c.G1016A:p.X339X,SPOCK3:NM_001204355:exon9:c.G1022A:p.X341X,SPOCK3:NM_001204353:exon10:c.G950A:p.X317X,SPOCK3:NM_001204354:exon10:c.G1034A:p.X345X,SPOCK3:NM_001204356:exon10:c.G1181A:p.X394X,SPOCK3:NM_001040159:exon11:c.G1301A:p.X434X,SPOCK3:NM_001204352:exon12:c.G1157A:p.X386X,SPOCK3:NM_016950:exon12:c.G1310A:p.X437X 0.13 0.011 0.12 0.001 0.26 0.3 0.2038 0.0391 0.1090 0.0020 0.1729 0.2598 0.1996 0.2636 0.19 0.041 0.27 0.076 0.15 rs1057377 COSM4785160;COSM3760471;COSM3760472;COSM5829859 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2000 0.0365 0.1061 0.3201 0.0017 0.1760 0.2551 0.2129 0.2579 0.1681 0.0442 0.1181 0.3179 0.0019 0.1851 0.2507 0.2202 het 369.22 49 4 167656073 . C T 369.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.995;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.28;MQ0=0;MQRankSum=1.716;QD=7.54;ReadPosRankSum=-0.373;VQSLOD=5.4318;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,16:49:99:399,0,982 4 167658622 167658622 A G exonic SPOCK3 synonymous SNV SPOCK3:NM_001251967:exon7:c.T843C:p.D281D,SPOCK3:NM_001204355:exon8:c.T849C:p.D283D,SPOCK3:NM_001204353:exon9:c.T777C:p.D259D,SPOCK3:NM_001204354:exon9:c.T861C:p.D287D,SPOCK3:NM_001204356:exon9:c.T1008C:p.D336D,SPOCK3:NM_001040159:exon10:c.T1128C:p.D376D,SPOCK3:NM_001204352:exon11:c.T984C:p.D328D,SPOCK3:NM_016950:exon11:c.T1137C:p.D379D 0.005 0.003 0.0014 . 0.018 0.002 0.0131 0.0029 0.0036 0 0.0251 0.0196 0.0102 0.0015 0.016 0.0032 0.022 . 0.016 rs34665704 COSM3993536;COSM3993535;COSM4908285 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0128 0.0024 0.0055 0.0051 0 0.0256 0.0197 0.0135 0.0015 0.0180 0.0037 0.0072 0.0099 0.0006 0.0235 0.0273 0.0235 het 2692.41 209 4 167658622 . A G 2692.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.483;DP=209;Dels=0.00;FS=0.543;HRun=0;HaplotypeScore=2.7678;MQ=59.18;MQ0=0;MQRankSum=-1.361;QD=12.88;ReadPosRankSum=0.857;VQSLOD=5.1751;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,100:209:99:2722,0,2814 4 169083694 169083694 A C exonic ANXA10 nonsynonymous SNV ANXA10:NM_007193:exon4:c.A211C:p.M71L 0.53 0.74 0.47 0.24 0.59 0.53 0.5411 0.7151 0.4373 0.2296 0.4543 0.5866 0.5442 0.5172 0.63 0.71 0.58 0.49 0.61 rs6836994 COSM149755 1(stomach);2(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.090 P -3.24 0.000 N 3.88 0.036 T 1.83 0.005 N 0.069 0.056 -1.018 0.244 T 0.000 0.000 T . . . -0.677 0.046 0.082 0.466 0.037 0.004 0.020 N c -1.398 -1.129 0.972 0.293 0.487 0.133 0 2.56 0.297 0.828 0.269 0.038 0.153 0.958 0.332 0.374 0.250 6.478 0.211 . ENSG00000109511.6|ENSG00000109511.6 Esophagus_Muscularis|Liver 0.5288 0.7190 0.4448 0.5822 0.2278 0.4531 0.5881 0.5576 0.5117 0.5720 0.7081 0.4532 0.5530 0.2258 0.4631 0.5672 0.5031 het 764.04 65 4 169083694 . A C 764.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.662;DP=65;Dels=0.00;FS=3.060;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.284;QD=11.75;ReadPosRankSum=-0.112;VQSLOD=6.1888;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,29:65:99:794,0,981 4 169086441 169086441 A G exonic ANXA10 synonymous SNV ANXA10:NM_007193:exon6:c.A444G:p.S148S 0.53 0.74 0.47 0.24 0.59 0.53 0.5397 0.7145 0.4341 0.2296 0.4540 0.5857 0.5430 0.5140 0.63 0.71 0.58 0.48 0.57 rs4405979 COSM149756 1(stomach);1(thymus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5249 0.7168 0.4337 0.5801 0.2232 0.4528 0.5854 0.5520 0.5034 0.5722 0.7084 0.4554 0.5530 0.2256 0.4643 0.5668 0.5031 het 1027.66 90 4 169086441 . A G 1027.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.692;DP=90;Dels=0.00;FS=5.203;HRun=2;HaplotypeScore=0.9958;MQ=58.96;MQ0=0;MQRankSum=0.981;QD=11.42;ReadPosRankSum=0.488;VQSLOD=5.5341;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,44:90:99:1058,0,1175 4 169098914 169098914 A G exonic ANXA10 synonymous SNV ANXA10:NM_007193:exon7:c.A504G:p.T168T 0.11 0.11 0.13 0.048 0.23 0.069 0.1548 0.1146 0.0869 0.0408 0.1860 0.2036 0.1454 0.0778 0.18 0.12 0.21 0.087 0.21 rs477897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1540 0.1110 0.0977 0.1637 0.0429 0.1859 0.2076 0.1664 0.0763 0.1594 0.1181 0.1110 0.1556 0.0506 0.1952 0.1906 0.1456 het 1304.34 136 4 169098914 . A G 1304.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.214;DP=136;Dels=0.00;FS=0.664;HRun=1;HaplotypeScore=3.4699;MQ=59.69;MQ0=0;MQRankSum=-0.158;QD=9.59;ReadPosRankSum=-0.705;VQSLOD=6.0160;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,54:136:99:1334,0,2092 4 169282355 169282355 T C exonic DDX60L nonsynonymous SNV DDX60L:NM_001012967:exon37:c.A4936G:p.M1646V,DDX60L:NM_001345927:exon37:c.A4939G:p.M1647V 0.58 0.37 0.62 0.75 0.64 0.59 0.6378 0.4205 0.6504 0.7441 0.6335 0.6597 0.6160 0.6091 0.58 0.41 0.66 0.5 . rs2684348 COSM4005705 1(urinary_tract);1(pancreas) . . . . . . . . . . . 0.241 0.176 T 0.01 0.144 B 0.006 0.112 B . . . 1 0.090 P 0 0.065 N 2.35 0.162 T -0.7 0.199 N 0.088 0.084 -1.037 0.183 T 0.000 0.000 T . . . -0.952 0.034 0.020 0.361 0.023 0.005 0.024 N c -1.356 -1.423 0.998 0.360 0.707 0.730 0 -2.12 0.067 -1.019 0.037 -0.818 0.031 0.000 0.063 0.001 0.043 3.161 0.061 . . . 0.6214 0.3756 0.6238 0.6381 0.7415 0.6107 0.6447 0.6252 0.5898 0.5738 0.3752 0.6411 0.6490 0.7714 0.6196 0.6492 0.6194 hom 350.89 13 4 169282355 . T C 350.89 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=26.99;VQSLOD=6.6319;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:30.09:384,30,0 4 169315760 169315760 C A exonic DDX60L nonsynonymous SNV DDX60L:NM_001012967:exon28:c.G3666T:p.E1222D,DDX60L:NM_001291510:exon28:c.G3669T:p.E1223D,DDX60L:NM_001345927:exon28:c.G3669T:p.E1223D 0.87 0.66 0.97 0.9 1. 0.93 0.9578 0.7077 0.9844 0.9108 0.9989 0.9924 0.9666 0.9551 0.91 0.73 0.99 0.8 . rs3749499 COSM4158897;COSM4909387 1(thyroid) . . . . . . . . . . . 0.454 0.089 T 0.0 0.067 B 0.001 0.040 B 0.155 0.030 N 1 0.090 P 0.655 0.162 N -0.53 0.913 T -1.26 0.318 N 0.011 0.106 -0.962 0.388 T 0.000 0.000 T . . . 0.018 0.095 2.759 0.761 0.110 0.014 0.046 N c -1.199 -1.354 0.949 0.278 0.732 0.924 0 -2.05 0.069 -0.320 0.080 -1.000 0.022 0.000 0.063 0.000 0.016 1.817 0.029 Helicase\x2c C-terminal|P-loop containing nucleoside triphosphate hydrolase . . 0.9618 0.7041 0.9834 0.9347 0.9122 0.9994 0.9952 0.9739 0.9541 0.9079 0.7085 0.9714 0.9106 0.9171 0.9997 0.9935 0.9704 hom 2082.20 73 4 169315760 . C A 2082.20 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.92;MQ0=0;QD=28.52;VQSLOD=8.0877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2115,166,0 4 169336662 169336662 T C exonic DDX60L nonsynonymous SNV DDX60L:NM_001012967:exon22:c.A2876G:p.Y959C,DDX60L:NM_001291510:exon22:c.A2876G:p.Y959C,DDX60L:NM_001345927:exon22:c.A2876G:p.Y959C 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs4692661 COSM4590183;COSM4590184 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2011.49 60 4 169336662 . T C 2011.49 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=33.52;VQSLOD=10.2021;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2044,157,0 4 169341435 169341435 A G exonic DDX60L nonsynonymous SNV DDX60L:NM_001012967:exon18:c.T2491C:p.C831R,DDX60L:NM_001291510:exon18:c.T2491C:p.C831R,DDX60L:NM_001345927:exon18:c.T2491C:p.C831R 0.98 0.95 0.99 1. 1. 1. 0.9951 0.9465 0.9966 1 1 0.9998 0.9978 0.9998 0.98 0.95 1. 0.96 . rs2130145 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.456 0.124 N 1 0.090 P -3.17 0.000 N 2.59 0.334 T 5.27 0.000 N 0.017 0.383 -1.004 0.287 T 0.000 0.000 T . . . -0.587 0.051 0.134 0.156 0.004 0.000 0.003 N c -1.670 -1.548 0.997 0.351 0.651 0.465 0 1.53 0.221 0.798 0.265 -0.566 0.046 0.026 0.200 0.000 0.016 6.381 0.206 DEAD/DEAH box helicase domain|Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase;Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase . . 0.9960 0.9466 0.9970 1 0.9999 1 0.9998 0.9959 0.9999 0.9852 0.9494 0.9916 1 1 1 0.9995 0.9969 hom 913.31 32 4 169341435 . A G 913.31 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.95;MQ0=0;QD=28.54;VQSLOD=8.0082;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.22:946,81,0 4 169369820 169369820 T A exonic DDX60L synonymous SNV DDX60L:NM_001012967:exon9:c.A1107T:p.I369I,DDX60L:NM_001291510:exon9:c.A1107T:p.I369I,DDX60L:NM_001345927:exon9:c.A1107T:p.I369I 0.82 0.77 0.82 0.91 0.8 0.83 0.8137 0.7807 0.8167 0.8890 0.8730 0.7962 0.8325 0.8357 0.78 0.77 0.79 0.78 . rs2712113 COSM5959996;COSM5959997 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8038 0.7695 0.7958 0.7903 0.8885 0.8649 0.7795 0.7952 0.8283 0.8037 0.7681 0.8165 0.7815 0.8937 0.8640 0.7995 0.8157 het 201.21 26 4 169369820 . T A 201.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.528;DP=26;Dels=0.00;FS=2.764;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.806;QD=7.74;ReadPosRankSum=-0.528;VQSLOD=5.2178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,8:26:99:231,0,516 4 169369853 169369853 A T exonic DDX60L synonymous SNV DDX60L:NM_001012967:exon9:c.T1074A:p.S358S,DDX60L:NM_001291510:exon9:c.T1074A:p.S358S,DDX60L:NM_001345927:exon9:c.T1074A:p.S358S 0.74 0.47 0.79 0.91 0.8 0.83 0.7836 0.5257 0.7909 0.8919 0.8687 0.7840 0.8148 0.8332 0.7 0.53 0.78 0.62 . rs2712114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7841 0.5110 0.7812 0.7517 0.8916 0.8659 0.7797 0.7797 0.8284 0.7290 0.5109 0.7931 0.7384 0.8937 0.8644 0.7978 0.8031 het 478.53 48 4 169369853 . A T 478.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.464;DP=48;Dels=0.00;FS=3.118;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=-0.864;QD=9.97;ReadPosRankSum=-0.148;VQSLOD=5.5018;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,19:48:99:509,0,822 4 169432673 169432673 C T exonic PALLD synonymous SNV PALLD:NM_001166108:exon2:c.C18T:p.S6S,PALLD:NM_016081:exon2:c.C18T:p.S6S 0.18 0.23 0.14 0.19 0.2 0.14 0.1943 0.2310 0.1475 0.1792 0.2051 0.2117 0.2004 0.1378 0.22 0.23 0.21 0.2 0.19 rs61051061 COSM3760473 1(skin);1(large_intestine) Benign Carcinoma_of_pancreas RCV000348927.1 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT C562463:C0235974:260350:ORPHA217074:372142002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1894 0.2257 0.1487 0.2421 0.1723 0.2046 0.2059 0.2082 0.1351 0.2047 0.2269 0.1687 0.2550 0.1640 0.1999 0.1989 0.1959 het 1791.17 188 4 169432673 . C T 1791.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.117;DP=188;Dels=0.00;FS=0.565;HRun=0;HaplotypeScore=4.4878;MQ=58.98;MQ0=0;MQRankSum=0.744;QD=9.53;ReadPosRankSum=-1.308;VQSLOD=5.2726;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:117,71:188:99:1821,0,2923 4 169432841 169432841 G A exonic PALLD synonymous SNV PALLD:NM_001166108:exon2:c.G186A:p.K62K,PALLD:NM_016081:exon2:c.G186A:p.K62K 0.24 0.22 0.18 0.19 0.33 0.24 0.2841 0.2337 0.1756 0.1785 0.4053 0.3258 0.2908 0.2296 0.29 0.24 0.32 0.24 0.2 rs1806729 . . Benign|Benign Carcinoma_of_pancreas|not_specified RCV000295176.1|RCV000454887.1 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C562463:C0235974:260350:ORPHA217074:372142002|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2806 0.2303 0.1783 0.2995 0.1731 0.3988 0.3240 0.2977 0.2253 0.3009 0.2344 0.2076 0.2815 0.1681 0.3892 0.3378 0.3194 het 633.12 61 4 169432841 . G A 633.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.596;DP=61;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.4450;MQ=60.00;MQ0=0;MQRankSum=-0.309;QD=10.38;ReadPosRankSum=-0.174;VQSLOD=5.5852;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,25:61:99:663,0,1015 4 169433326 169433326 T C exonic PALLD nonsynonymous SNV PALLD:NM_001166108:exon2:c.T671C:p.M224T,PALLD:NM_016081:exon2:c.T671C:p.M224T 0.24 0.24 0.18 0.19 0.33 0.24 0.2852 0.2483 0.1752 0.1793 0.4050 0.3263 0.2907 0.2267 0.28 0.24 0.3 . 0.19 rs7655494 . . Benign not_specified RCV000455304.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.157 0.178 N 1 0.192 P -2.585 0.000 N 0.14 0.622 T 1.03 0.014 N 0.023 0.006 -1.015 0.254 T 0.000 0.000 T . . . -2.123 0.006 0.001 0.607 0.064 0.019 0.057 N c -1.479 -1.347 1.000 0.747 0.556 0.300 0 3.67 0.411 0.328 0.193 -0.397 0.063 0.000 0.063 0.059 0.170 1.752 0.028 . ENSG00000181381.9 Lung 0.2815 0.2461 0.1789 0.2992 0.1747 0.3989 0.3244 0.2977 0.2225 0.3014 0.2472 0.2069 0.2815 0.1710 0.3876 0.3317 0.3163 het 1654.54 169 4 169433326 . T C 1654.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.513;DP=169;Dels=0.00;FS=0.594;HRun=0;HaplotypeScore=1.7753;MQ=56.86;MQ0=0;MQRankSum=-0.323;QD=9.79;ReadPosRankSum=1.120;VQSLOD=4.1170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,67:169:99:1685,0,2867 4 169433327 169433327 G A exonic PALLD nonsynonymous SNV PALLD:NM_001166108:exon2:c.G672A:p.M224I,PALLD:NM_016081:exon2:c.G672A:p.M224I 0.24 0.24 0.18 0.19 0.33 0.24 0.2852 0.2483 0.1747 0.1790 0.4051 0.3264 0.2907 0.2267 0.28 0.24 0.31 . 0.19 rs7671781 . . Benign not_specified RCV000455960.1 MedGen CN169374 . . . . . . 0.208 0.198 T 0.0 0.026 B 0.0 0.013 B 0.157 0.178 N 1 0.186 P 0 0.065 N 0.18 0.616 T -0.09 0.127 N 0.026 0.008 -1.071 0.091 T 0.000 0.000 T . . . -1.837 0.010 0.002 0.797 0.124 0.048 0.104 N c -2.154 -2.262 1.000 0.747 0.556 0.300 0 -10.8 0.002 -4.944 0.002 -1.551 0.010 0.000 0.063 0.009 0.108 2.980 0.055 . ENSG00000181381.9 Lung 0.2814 0.2461 0.1786 0.2992 0.1742 0.3988 0.3244 0.2978 0.2225 0.3013 0.2468 0.2074 0.2815 0.1702 0.3879 0.3318 0.3163 het 1610.85 165 4 169433327 . G A 1610.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.489;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7753;MQ=56.78;MQ0=0;MQRankSum=0.362;QD=9.76;ReadPosRankSum=1.222;VQSLOD=3.4602;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:100,65:165:99:1641,0,2941 4 169433333 169433333 C T exonic PALLD synonymous SNV PALLD:NM_001166108:exon2:c.C678T:p.D226D,PALLD:NM_016081:exon2:c.C678T:p.D226D 0.24 0.24 0.18 0.19 0.33 0.24 0.2851 0.2485 0.1749 0.1787 0.4050 0.3263 0.2907 0.2267 0.3 0.25 0.33 0.25 0.18 rs7673220 . . Benign|Benign Carcinoma_of_pancreas|not_specified RCV000305338.1|RCV000454895.1 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C562463:C0235974:260350:ORPHA217074:372142002|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2812 0.2460 0.1787 0.2988 0.1742 0.3989 0.3242 0.2977 0.2225 0.3010 0.2463 0.2069 0.2815 0.1700 0.3881 0.3315 0.3160 het 1453.74 157 4 169433333 . C T 1453.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.841;DP=157;Dels=0.00;FS=3.067;HRun=0;HaplotypeScore=2.9858;MQ=56.74;MQ0=0;MQRankSum=1.190;QD=9.26;ReadPosRankSum=0.756;VQSLOD=3.9269;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,62:157:99:1484,0,2662 4 169433444 169433444 C T exonic PALLD synonymous SNV PALLD:NM_001166108:exon2:c.C789T:p.S263S,PALLD:NM_016081:exon2:c.C789T:p.S263S 0.057 0.019 0.078 . 0.12 0.092 0.1049 0.0410 0.0619 0.0001 0.1242 0.1393 0.1194 0.0829 0.1 0.043 0.14 0.033 0.12 rs72695199 COSM3760475;COSM3760474 1(large_intestine) Benign Carcinoma_of_pancreas RCV000306330.1 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT C562463:C0235974:260350:ORPHA217074:372142002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1024 0.0372 0.0633 0.1699 0.0002 0.1211 0.1341 0.1277 0.0814 0.0931 0.0384 0.0800 0.1689 0 0.1165 0.1266 0.1255 het 1593.89 131 4 169433444 . C T 1593.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.539;DP=131;Dels=0.00;FS=1.408;HRun=0;HaplotypeScore=1.6637;MQ=59.51;MQ0=0;MQRankSum=-0.021;QD=12.17;ReadPosRankSum=0.222;VQSLOD=6.1617;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,60:131:99:1624,0,1781 4 169835134 169835134 A G exonic PALLD synonymous SNV PALLD:NM_001166110:exon7:c.A1167G:p.R389R,PALLD:NM_001166109:exon14:c.A1482G:p.R494R,PALLD:NM_016081:exon15:c.A2628G:p.R876R,PALLD:NM_001166108:exon16:c.A2679G:p.R893R 0.11 0.2 0.13 0.028 0.1 0.039 0.0927 0.1985 0.0690 0.0347 0.0472 0.1033 0.0958 0.0480 0.14 0.2 0.11 0.12 0.049 rs1059444 COSM4005712;COSM4005713 1(breast);1(urinary_tract) Benign Carcinoma_of_pancreas RCV000312336.1 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT C562463:C0235974:260350:ORPHA217074:372142002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0910 0.1993 0.0688 0.1846 0.0350 0.0461 0.1021 0.1103 0.0516 0.1152 0.1996 0.0781 0.19 0.0407 0.0507 0.0925 0.0733 het 2553.29 180 4 169835134 . A G 2553.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.326;DP=180;Dels=0.00;FS=2.714;HRun=1;HaplotypeScore=2.4274;MQ=59.62;MQ0=0;MQRankSum=0.196;QD=14.18;ReadPosRankSum=-0.627;VQSLOD=6.2478;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,99:180:99:2583,0,2021 4 170477125 170477125 G A exonic NEK1 nonsynonymous SNV NEK1:NM_001199399:exon16:c.C1313T:p.A438V,NEK1:NM_001199400:exon16:c.C1388T:p.A463V,NEK1:NM_012224:exon16:c.C1388T:p.A463V,NEK1:NM_001199397:exon17:c.C1388T:p.A463V,NEK1:NM_001199398:exon17:c.C1388T:p.A463V 0.016 0.0008 0.032 . 0.05 0.0082 0.0351 0.0105 0.0223 0 0.0195 0.0522 0.0323 0.0145 0.043 0.01 0.057 0.022 . rs34540355 . . Likely benign|Benign Short_Rib_Polydactyly_Syndrome|not_specified RCV000293366.1|RCV000428150.1 MedGen|MedGen C0036996|CN169374 . . . . . . 0.245 0.181 T 0.002 0.154 B 0.005 0.214 B 0.009 0.308 N 0.984 0.258 N 0.92 0.235 L -0.38 0.694 T -0.78 0.227 N 0.025 0.026 -1.030 0.206 T 0.034 0.147 T . . . 1.679 0.263 14.29 0.979 0.359 0.594 0.306 D c -0.403 -0.323 0.950 0.278 0.741 0.978 0 3.95 0.448 1.554 0.356 0.108 0.203 0.791 0.294 0.957 0.436 9.261 0.366 . . . 0.0356 0.0096 0.0241 0.0224 0 0.0190 0.0579 0.0421 0.0150 0.0322 0.0093 0.0310 0.0132 0 0.0200 0.0522 0.0338 het 765.76 72 4 170477125 . G A 765.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.120;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5777;MQ=58.18;MQ0=0;MQRankSum=1.390;QD=10.64;ReadPosRankSum=-1.062;VQSLOD=5.1508;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,33:72:99:796,0,1019 4 170663235 170663235 C T exonic HPF1 nonsynonymous SNV HPF1:NM_017867:exon5:c.G521A:p.R174K 0.79 0.67 0.85 0.91 0.82 0.75 0.8177 0.6978 0.9017 0.9203 0.8418 0.8190 0.8256 0.7645 0.78 0.71 0.82 0.79 0.53 rs1047642 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -2.9 0.000 N 1.21 0.372 T 2.09 0.004 N 0.021 0.005 -0.964 0.385 T 0.000 0.000 T . . . 0.238 0.117 5.078 0.294 0.016 0.093 0.149 N c -1.084 -0.805 0.033 0.141 0.732 0.924 0 4.63 0.570 3.583 0.534 0.090 0.195 1.000 0.715 0.967 0.454 10.439 0.434 . ENSG00000056050.6|ENSG00000137601.11 Esophagus_Mucosa|Thyroid 0.8229 0.6952 0.8971 0.8132 0.9219 0.8388 0.8177 0.8300 0.7592 0.7961 0.6975 0.8744 0.8146 0.9185 0.8329 0.8249 0.8255 hom 1533.43 49 4 170663235 . C T 1533.43 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=31.29;VQSLOD=9.7097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1566,120,0 4 170678993 170678993 T C exonic HPF1 synonymous SNV HPF1:NM_017867:exon1:c.A36G:p.G12G 0.78 0.69 0.8 0.88 0.78 0.77 0.8033 0.7365 0.8677 0.8909 0.8574 0.8105 0.7781 0.7333 0.78 0.71 0.81 0.76 0.057 rs11540095 COSM3749861 10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7947 0.6871 0.8496 0.7703 0.8877 0.8464 0.7911 0.7824 0.7253 0.7839 0.6876 0.8301 0.7852 0.8784 0.8451 0.8105 0.8184 hom 269.79 10 4 170678993 . T C 269.79 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55.01;MQ0=0;QD=26.98;VQSLOD=7.8314;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:303,24,0 4 174090004 174090004 G A exonic GALNT7 synonymous SNV GALNT7:NM_017423:exon1:c.G18A:p.G6G 0.64 0.58 0.52 0.72 0.7 0.66 0.6615 0.6202 0.4368 0.6880 0.7277 0.6882 0.6667 0.6954 0.65 0.61 0.68 0.033 0.58 rs3733477 COSM4158914 4(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6543 0.6182 0.4522 0.7386 0.6878 0.7152 0.6847 0.6590 0.6924 0.6713 0.6229 0.4855 0.7852 0.7021 0.7211 0.6912 0.6923 hom 1020.69 37 4 174090004 . G A 1020.69 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=27.59;VQSLOD=8.1343;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:90.24:1054,90,0 4 174253333 174253333 G A exonic HMGB2 synonymous SNV HMGB2:NM_001130689:exon4:c.C528T:p.G176G,HMGB2:NM_001130688:exon5:c.C528T:p.G176G,HMGB2:NM_002129:exon5:c.C528T:p.G176G . . . . . . . . . . . . . . . . . . . . COSM6053231 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1250.80 108 4 174253333 . G A 1250.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.479;DP=108;Dels=0.00;FS=2.640;HRun=0;HaplotypeScore=4.3768;MQ=58.73;MQ0=0;MQRankSum=1.118;QD=11.58;ReadPosRankSum=-0.779;VQSLOD=3.8783;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,50:108:99:1281,0,1488 4 175225452 175225452 G A exonic CEP44 nonsynonymous SNV CEP44:NM_001040157:exon6:c.G439A:p.G147S,CEP44:NM_001145314:exon6:c.G439A:p.G147S 0.44 0.58 0.32 0.16 0.55 0.52 0.4810 0.5787 0.2453 0.1476 0.4882 0.5386 0.4945 0.5227 0.55 0.57 0.54 0.51 0.52 rs4695918 COSM5482495;COSM4002999 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.380 0.134 N 1 0.090 P -1.83 0.003 N 1.08 0.400 T 1.51 0.009 N 0.009 0.001 -0.916 0.461 T 0.000 0.000 T . . . -1.574 0.015 0.002 0.290 0.015 0.004 0.020 N c -1.711 -1.631 0.003 0.099 0.638 0.428 0 0.671 0.170 0.282 0.184 -1.204 0.016 0.000 0.063 0.000 0.016 8.849 0.342 . ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8|ENSG00000164118.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Pituitary|Prostate|Spleen|Stomach|Thyroid 0.4686 0.5761 0.2532 0.4797 0.1561 0.4923 0.5455 0.4926 0.5179 0.5145 0.5614 0.3169 0.5199 0.1722 0.4893 0.5429 0.4856 het 1340.17 111 4 175225452 . G A 1340.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.658;DP=111;Dels=0.00;FS=0.723;HRun=0;HaplotypeScore=2.7374;MQ=58.39;MQ0=0;MQRankSum=0.510;QD=12.07;ReadPosRankSum=0.959;VQSLOD=6.0125;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,54:111:99:1370,0,1404 4 175237408 175237408 T C exonic CEP44 synonymous SNV CEP44:NM_001040157:exon10:c.T1053C:p.T351T,CEP44:NM_001145314:exon10:c.T1053C:p.T351T 0.69 0.7 0.56 0.74 0.74 0.64 0.6860 0.7007 0.4580 0.7466 0.6391 0.7284 0.6949 0.6515 0.72 0.7 0.73 0.71 0.7 rs1553669 COSM149763 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6765 0.6984 0.4726 0.6785 0.7462 0.6437 0.7364 0.7019 0.6502 0.6993 0.6941 0.5609 0.7219 0.7590 0.6430 0.7185 0.6660 het 2588.55 178 4 175237408 . T C 2588.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.532;DP=178;Dels=0.00;FS=4.441;HRun=1;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=0.853;QD=14.54;ReadPosRankSum=0.734;VQSLOD=6.2498;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,107:178:99:2619,0,1666 4 175443156 175443156 C T exonic HPGD synonymous SNV HPGD:NM_000860:exon2:c.G156A:p.Q52Q,HPGD:NM_001145816:exon2:c.G156A:p.Q52Q,HPGD:NM_001256305:exon2:c.G156A:p.Q52Q,HPGD:NM_001256306:exon2:c.G156A:p.Q52Q 0.34 0.26 0.32 0.46 0.41 0.27 0.3862 0.2697 0.3183 0.4230 0.4067 0.4312 0.4371 0.2948 0.38 0.27 0.43 0.37 0.39 rs1050145 COSM1131179 1(prostate) Benign|Benign Pachydermoperiostosis_syndrome|Digital_clubbing\x2c_isolated_congenital RCV000311547.1|RCV000368531.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM C0029411:259100:ORPHA248095:88220006|C1861514:119900 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3835 0.2703 0.3199 0.3613 0.4219 0.4112 0.4326 0.3783 0.2977 0.3813 0.2766 0.3150 0.3543 0.4262 0.3906 0.4380 0.4041 het 4032.17 249 4 175443156 . C T 4032.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.955;DP=249;DS;Dels=0.00;FS=1.549;HRun=1;HaplotypeScore=3.5483;MQ=59.51;MQ0=0;MQRankSum=-0.712;QD=16.19;ReadPosRankSum=-0.112;VQSLOD=5.9415;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,124:249:99:3378,0,3586 4 175598334 175598334 T C exonic GLRA3 synonymous SNV GLRA3:NM_001042543:exon7:c.A822G:p.S274S,GLRA3:NM_006529:exon7:c.A822G:p.S274S 0.98 0.91 0.99 1. 1. 1. 0.9931 0.9262 0.9968 1 1 0.9996 0.9978 0.9998 0.98 0.93 1. 0.98 0.98 rs6812439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9946 0.9270 0.9969 0.9982 1 1 0.9996 0.9956 0.9996 0.9796 0.9284 0.9976 1 1 1 0.9999 0.9959 hom 2789.78 92 4 175598334 . T C 2789.78 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=30.32;VQSLOD=8.6480;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2823,232,0 4 175688138 175688138 A G exonic GLRA3 synonymous SNV GLRA3:NM_001042543:exon3:c.T243C:p.F81F,GLRA3:NM_006529:exon3:c.T243C:p.F81F 0.79 0.67 0.73 1. 0.74 0.83 0.7763 0.7031 0.6932 0.9968 0.7738 0.7665 0.7830 0.8047 0.68 0.67 0.68 0.76 0.75 rs7696263 COSM3760485 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7730 0.6991 0.6863 0.7859 0.9971 0.7744 0.7650 0.7612 0.8045 0.7593 0.6921 0.7007 0.77 0.9975 0.7764 0.7692 0.7996 hom 3233.06 115 4 175688138 . A G 3233.06 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.59;MQ0=0;QD=28.11;VQSLOD=8.1002;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3266,256,0 4 175688141 175688141 G A exonic GLRA3 synonymous SNV GLRA3:NM_001042543:exon3:c.C240T:p.S80S,GLRA3:NM_006529:exon3:c.C240T:p.S80S 0.34 0.11 0.32 0.52 0.37 0.43 0.3528 0.1298 0.2809 0.4987 0.3901 0.3532 0.4053 0.4475 0.052 0.012 0.072 0.26 0.29 rs12651268 COSM3760486 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3497 0.1238 0.2842 0.3081 0.4928 0.3861 0.3501 0.3586 0.4385 0.2957 0.1293 0.2964 0.32 0.5124 0.3808 0.3444 0.3661 het 1218.87 116 4 175688141 . G A 1218.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.958;DP=116;Dels=0.00;FS=1.503;HRun=3;HaplotypeScore=0.8667;MQ=58.60;MQ0=0;MQRankSum=-0.030;QD=10.51;ReadPosRankSum=-0.551;VQSLOD=5.8850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,54:116:99:1249,0,1606 4 177073026 177073026 G A exonic WDR17 nonsynonymous SNV WDR17:NM_181265:exon17:c.G2368A:p.A790T,WDR17:NM_001350727:exon18:c.G2440A:p.A814T,WDR17:NM_170710:exon18:c.G2440A:p.A814T 0.98 0.92 0.99 1. 1. 1. 0.9935 0.9334 0.9955 1 1 0.9995 0.9934 0.9998 0.98 0.94 1. 0.95 0.95 rs4690661 . . . . . . . . . . . . . 0.834 0.029 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.208 P -1.95 0.002 N 0.51 0.558 T 0.39 0.035 N 0.034 0.176 -0.950 0.409 T 0.000 0.000 T . . . 1.645 0.259 14.10 0.235 0.010 0.214 0.212 N c -0.387 -0.243 0.997 0.352 0.638 0.428 0 5.55 0.832 5.863 0.691 0.244 0.267 1.000 0.715 0.312 0.239 11.643 0.503 . . . 0.9947 0.9326 0.9955 0.9997 1 1 0.9993 0.9956 0.9998 0.9814 0.9359 0.9940 1 1 1 0.9994 0.9959 hom 3446.59 127 4 177073026 . G A 3446.59 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.37;MQ0=1;QD=27.14;VQSLOD=7.4776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3446,268,0 4 177082069 177082069 G C exonic WDR17 nonsynonymous SNV WDR17:NM_181265:exon20:c.G2666C:p.C889S,WDR17:NM_001350727:exon21:c.G2738C:p.C913S,WDR17:NM_170710:exon21:c.G2738C:p.C913S 0.19 0.14 0.14 0.17 0.25 0.26 0.2218 0.1515 0.1106 0.1447 0.2473 0.2460 0.2434 0.2755 0.23 0.16 0.26 0.17 0.12 rs7693453 COSM3760488 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.462 0.098 T 0.381 0.405 B 0.064 0.334 B 0.000 0.843 D 0.000 0.588 P 2.085 0.579 M 0.5 0.563 T -0.84 0.229 N 0.374 0.435 -1.099 0.042 T 0.000 0.000 T . . . 1.487 0.241 13.24 0.672 0.080 0.968 0.710 D c -0.019 -0.002 0.786 0.239 0.554 0.246 0 2.79 0.317 4.495 0.598 0.108 0.203 1.000 0.715 0.985 0.512 13.571 0.611 . . . 0.2207 0.1530 0.1160 0.2969 0.1396 0.2419 0.2457 0.2359 0.2759 0.2153 0.1593 0.1659 0.3146 0.1174 0.2540 0.2496 0.2240 het 779.88 72 4 177082069 . G C 779.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.210;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=58.30;MQ0=0;MQRankSum=1.422;QD=10.83;ReadPosRankSum=-0.663;VQSLOD=5.7591;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,32:72:99:810,0,984 4 177100644 177100644 G A exonic WDR17 nonsynonymous SNV WDR17:NM_181265:exon29:c.G3766A:p.A1256T,WDR17:NM_001350727:exon31:c.G3859A:p.A1287T,WDR17:NM_170710:exon31:c.G3883A:p.A1295T 0.21 0.14 0.21 0.13 0.28 0.31 0.2547 0.1506 0.1807 0.1215 0.2399 0.2829 0.2698 0.3329 0.25 0.15 0.3 0.21 0.33 rs11736872 . . . . . . . . . . . . . 0.41 0.109 T 0.02 0.170 B 0.009 0.133 B 0.002 0.379 N 0.002 0.442 P 1.61 0.413 L 0.37 0.580 T -0.81 0.223 N 0.042 0.275 -0.962 0.389 T 0.000 0.000 T . . . 2.021 0.304 16.34 0.949 0.252 0.377 0.256 N c -0.493 -0.521 0.010 0.119 0.554 0.246 0 -0.869 0.101 0.627 0.240 -0.554 0.047 0.233 0.245 0.973 0.468 10.613 0.444 . . . 0.2505 0.1442 0.1813 0.3234 0.1133 0.2362 0.2811 0.2576 0.3282 0.2361 0.1503 0.2120 0.3 0.1038 0.2475 0.2958 0.2675 het 1605.06 149 4 177100644 . G A 1605.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.812;DP=149;Dels=0.00;FS=3.881;HRun=0;HaplotypeScore=3.5587;MQ=58.25;MQ0=0;MQRankSum=0.230;QD=10.77;ReadPosRankSum=-0.450;VQSLOD=5.2827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,71:149:99:1635,0,1904 4 177113779 177113779 T C exonic SPATA4 synonymous SNV SPATA4:NM_144644:exon4:c.A687G:p.P229P 0.36 0.27 0.24 0.61 0.31 0.38 0.3222 0.2867 0.2370 0.6063 0.3098 0.3078 0.3322 0.3173 0.3 0.29 0.31 0.3 0.21 rs12502935 COSM3760490 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3186 0.2835 0.2369 0.3541 0.6066 0.3105 0.3027 0.3229 0.3146 0.3073 0.2818 0.2554 0.3709 0.6134 0.3129 0.2904 0.2914 het 357.65 33 4 177113779 . T C 357.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.666;DP=33;Dels=0.00;FS=5.871;HRun=2;HaplotypeScore=3.9929;MQ=58.73;MQ0=0;MQRankSum=0.450;QD=10.84;ReadPosRankSum=0.270;VQSLOD=5.1532;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,16:33:99:388,0,520 4 177113956 177113956 A G exonic SPATA4 synonymous SNV SPATA4:NM_144644:exon4:c.T510C:p.Y170Y 0.23 0.16 0.16 0.38 0.18 0.26 0.1986 0.1662 0.1662 0.3575 0.1950 0.1831 0.2069 0.2220 0.17 0.17 0.17 0.13 0.09 rs2291244 COSM4003002 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1942 0.1639 0.1611 0.1514 0.3581 0.1953 0.1794 0.1958 0.2200 0.1789 0.1603 0.1551 0.1589 0.3541 0.1871 0.1699 0.1894 het 760.38 51 4 177113956 . A G 760.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.919;DP=51;Dels=0.00;FS=1.172;HRun=0;HaplotypeScore=0.0000;MQ=57.97;MQ0=0;MQRankSum=0.890;QD=14.91;ReadPosRankSum=-0.603;VQSLOD=4.9434;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,30:51:99:790,0,519 4 177137988 177137988 C T exonic ASB5 synonymous SNV ASB5:NM_080874:exon6:c.G843A:p.R281R 0.52 0.52 0.55 0.57 0.48 0.47 0.5023 0.4987 0.5591 0.5833 0.5625 0.4780 0.5458 0.4931 0.48 0.5 0.48 0.48 0.52 rs6827525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4990 0.4964 0.5489 0.4552 0.5778 0.5614 0.4719 0.4984 0.4690 0.5024 0.5104 0.5084 0.4603 0.5549 0.5641 0.4773 0.5143 hom 4523.40 143 4 177137988 . C T 4523.40 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9326;MQ=59.25;MQ0=0;QD=31.63;VQSLOD=9.7247;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:143:99:4523,355,0 4 177605082 177605084 TCA - exonic VEGFC nonframeshift deletion VEGFC:NM_005429:exon7:c.1256_1258del:p.M419del 1. 0.99 1. 1. 1. 1. 0.9990 0.9880 0.9999 1 1 1.0000 1 1 1. 0.99 1. . . rs5864401 COSM5713112 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9872 0.9995 1 1 1 1.0000 1 1 0.9958 0.9852 1 1 1 1 1 1 hom 6738.01 148 4 177605081 . CTCA C 6738.01 Mask AC=2;AF=1.00;AN=2;DP=148;FS=0.000;HRun=0;HaplotypeScore=633.8262;MQ=56.79;MQ0=0;QD=45.53;set=variant2 GT:AD:DP:GQ:PL 1/1:9,139:148:99:6738,418,0 4 178262784 178262784 A G exonic NEIL3 nonsynonymous SNV NEIL3:NM_018248:exon6:c.A857G:p.H286R 0.091 0.0053 0.053 0.1 0.16 0.15 0.1284 0.0259 0.0574 0.0951 0.1308 0.1527 0.1171 0.1628 0.11 0.027 0.15 0.043 0.098 rs34193982 COSM4418928;COSM4418927 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.683 0.044 T 0.0 0.026 B 0.001 0.040 B 0.634 0.107 N 1 0.090 P 1.885 0.502 L 3.83 0.037 T -0.78 0.216 N 0.016 0.013 -0.900 0.481 T 0.000 0.000 T . . . -0.183 0.077 1.191 0.762 0.110 0.064 0.122 N c -0.969 -1.015 0.990 0.318 0.615 0.372 0 -4.55 0.032 0.252 0.179 0.237 0.263 0.016 0.191 0.978 0.483 0.015 0.000 . . . 0.1229 0.0245 0.0556 0.1351 0.0896 0.1207 0.1523 0.1163 0.1568 0.1115 0.0284 0.0837 0.1689 0.0773 0.1236 0.1594 0.1376 het 981.53 63 4 178262784 . A G 981.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.335;DP=63;Dels=0.00;FS=3.696;HRun=0;HaplotypeScore=2.6971;MQ=59.04;MQ0=0;MQRankSum=1.611;QD=15.58;ReadPosRankSum=0.021;VQSLOD=5.4821;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,35:63:99:1012,0,694 4 178274565 178274565 A G exonic NEIL3 synonymous SNV NEIL3:NM_018248:exon8:c.A1143G:p.R381R 0.61 0.67 0.63 0.38 0.78 0.58 0.6907 0.6938 0.6597 0.4010 0.7506 0.7555 0.6903 0.5757 0.74 0.7 0.76 0.7 0.75 rs2048074 COSM3760494 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6924 0.6933 0.6764 0.7347 0.3960 0.7528 0.7591 0.6888 0.5771 0.7119 0.6957 0.7026 0.7682 0.3804 0.7453 0.7494 0.6988 hom 2547.09 76 4 178274565 . A G 2547.09 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=33.51;VQSLOD=10.2124;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2580,205,0 4 178274694 178274694 T G exonic NEIL3 synonymous SNV NEIL3:NM_018248:exon8:c.T1272G:p.V424V 0.54 0.44 0.61 0.38 0.76 0.57 0.6661 0.4898 0.6443 0.4006 0.7451 0.7475 0.6788 0.5702 0.67 0.5 0.75 0.56 0.72 rs10007075 COSM3760495 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6715 0.4865 0.6596 0.7320 0.3957 0.7471 0.7503 0.6706 0.5714 0.6496 0.4904 0.6851 0.77 0.3833 0.7401 0.7430 0.6835 hom 2168.91 79 4 178274694 . T G 2168.91 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=27.45;VQSLOD=7.9897;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2202,163,0 4 178274750 178274750 C T exonic NEIL3 nonsynonymous SNV NEIL3:NM_018248:exon8:c.C1328T:p.P443L 0.61 0.67 0.63 0.38 0.77 0.58 0.6899 0.6930 0.6585 0.3993 0.75 0.7549 0.6894 0.5753 0.74 0.7 0.76 0.7 0.72 rs13112358 COSM3760496 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.686 0.043 T 0.0 0.026 B 0.001 0.040 B 0.822 0.069 N 1 0.090 P 0.485 0.132 N 3.84 0.037 T -0.36 0.131 N 0.007 0.000 -1.000 0.300 T 0.000 0.000 T . . . -0.693 0.045 0.075 0.666 0.079 0.010 0.039 N c -1.635 -1.645 0.984 0.307 0.615 0.372 0 -4.99 0.028 -0.395 0.073 -0.563 0.046 0.000 0.063 0.715 0.313 16.941 0.860 . . . 0.6920 0.6928 0.6760 0.7348 0.3956 0.7525 0.7586 0.6884 0.5768 0.7119 0.6950 0.7050 0.7682 0.3794 0.7447 0.7498 0.6996 hom 2404.59 78 4 178274750 . C T 2404.59 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.70;MQ0=0;QD=30.83;VQSLOD=9.3030;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2438,190,0 4 178274835 178274835 A C exonic NEIL3 nonsynonymous SNV NEIL3:NM_018248:exon8:c.A1413C:p.Q471H 0.66 0.71 0.71 0.45 0.8 0.64 0.7337 0.7241 0.7344 0.4553 0.7697 0.7885 0.7335 0.6490 0.77 0.73 0.79 0.72 0.76 rs13112390 COSM1131168;COSM1428751 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.642 0.050 T 0.0 0.026 B 0.0 0.013 B 0.000 0.463 N 1 0.090 P -2.515 0.001 N 3.81 0.038 T 1.51 0.007 N 0.032 0.034 -1.063 0.111 T 0.000 0.000 T . . . -0.597 0.050 0.127 0.580 0.058 0.002 0.010 N c -1.681 -1.617 0.703 0.227 0.615 0.372 0 -1.15 0.092 -0.052 0.117 -0.321 0.076 0.002 0.151 0.022 0.137 1.402 0.021 . . . 0.7365 0.7221 0.7479 0.7756 0.4532 0.7742 0.7913 0.7354 0.6510 0.7413 0.7233 0.7691 0.8013 0.4387 0.7638 0.7772 0.7300 hom 3007.25 105 4 178274835 . A C 3007.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.699;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5572;MQ=56.89;MQ0=0;MQRankSum=1.072;QD=28.64;ReadPosRankSum=-0.148;VQSLOD=4.2871;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,104:105:99:3040,229,0 4 178281754 178281754 G A exonic NEIL3 nonsynonymous SNV NEIL3:NM_018248:exon9:c.G1558A:p.G520R 0.93 0.89 0.95 0.97 0.97 0.89 0.9539 0.9098 0.9407 0.9780 0.9809 0.9671 0.9780 0.9128 0.95 0.91 0.97 0.96 0.96 rs1876268 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.486 N 1.000 0.090 P -2.8 0.000 N 2.24 0.179 T 2.34 0.003 N 0.04 0.208 -0.977 0.357 T 0.000 0.000 T . . . 0.752 0.166 9.165 0.625 0.068 0.318 0.242 N c -1.043 -0.730 0.979 0.299 0.615 0.372 0 4.74 0.596 2.951 0.485 -0.689 0.038 1.000 0.715 0.398 0.254 9.011 0.351 Zinc finger\x2c GRF-type . . 0.9559 0.9069 0.9462 0.9939 0.9771 0.9811 0.9652 0.9644 0.9134 0.9510 0.9044 0.9605 0.9901 0.9833 0.9791 0.9657 0.9664 hom 3778.41 116 4 178281754 . G A 3778.41 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7005;MQ=59.36;MQ0=0;QD=32.57;VQSLOD=8.9660;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3778,292,0 4 178359960 178359960 G C exonic AGA nonsynonymous SNV AGA:NM_000027:exon4:c.C446G:p.T149S,AGA:NM_001171988:exon4:c.C446G:p.T149S 0.92 0.71 0.97 1. 1. 1. 0.9782 0.7642 0.9877 0.9999 1 0.9994 0.9879 0.9999 0.93 0.78 1. 0.87 0.93 rs2228119 . . Benign|Benign not_specified|Aspartylglycosaminuria RCV000077944.5|RCV000394488.1 MedGen|MedGen:OMIM CN169374|C0268225:208400 . . . . . . 0.726 0.038 T 0.0 0.026 B 0.0 0.013 B 0.035 0.247 N 1 0.090 P -0.92 0.013 N -2.27 0.874 D 0.65 0.031 N 0.017 0.206 -0.973 0.366 T 0.000 0.000 T . . . -1.611 0.014 0.002 0.343 0.021 0.030 0.078 N c -1.858 -1.815 0.452 0.205 0.732 0.924 0 -4.65 0.031 -0.231 0.090 -0.849 0.029 0.000 0.063 0.042 0.158 9.189 0.362 Nucleophile aminohydrolases\x2c N-terminal . . 0.9828 0.7607 0.9873 0.9999 0.9999 1 0.9993 0.9880 0.9998 0.9338 0.7696 0.9797 1 1 1 0.9989 0.9878 hom 1237.46 46 4 178359960 . G C 1237.46 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=26.90;VQSLOD=7.8516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:93.30:1270,93,0 4 183652175 183652175 T C exonic TENM3 synonymous SNV TENM3:NM_001080477:exon16:c.T2850C:p.D950D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs10866256 COSM4595156 1(upper_aerodigestive_tract) Benign not_specified RCV000249991.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 4235.42 138 4 183652175 . T C 4235.42 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=58.60;MQ0=0;QD=30.69;VQSLOD=8.1953;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:138:99:4235,322,0 4 183664522 183664522 T C exonic TENM3 synonymous SNV TENM3:NM_001080477:exon19:c.T3579C:p.Y1193Y 0.23 0.35 0.14 0.14 0.3 0.17 0.2631 0.3471 0.1274 0.1488 0.3197 0.3038 0.2695 0.1802 0.31 0.32 0.3 0.3 . rs7654255 COSM4003005 3(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000253118.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2566 0.3448 0.1338 0.2599 0.1527 0.3274 0.3039 0.2575 0.1804 0.3066 0.3394 0.1587 0.2815 0.1525 0.3289 0.3089 0.2908 het 1403.91 133 4 183664522 . T C 1403.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.312;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3957;MQ=59.55;MQ0=0;MQRankSum=0.332;QD=10.56;ReadPosRankSum=-0.418;VQSLOD=6.6409;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,60:133:99:1434,0,2032 4 183713573 183713573 C T exonic TENM3 synonymous SNV TENM3:NM_001080477:exon26:c.C5748T:p.N1916N 0.0044 . 0.0058 . 0.018 . 0.0132 0.0028 0.0060 0 0.0156 0.0203 0.0089 0.0019 0.014 0.0032 0.02 . . rs80197208 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0131 0.0029 0.0052 0.0422 0 0.0137 0.0190 0.0155 0.0023 0.0118 0.0024 0.0084 0.0397 0 0.0149 0.0178 0.0071 het 1351.78 100 4 183713573 . C T 1351.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.862;DP=100;Dels=0.00;FS=4.766;HRun=0;HaplotypeScore=1.7825;MQ=59.21;MQ0=0;MQRankSum=-1.884;QD=13.52;ReadPosRankSum=0.179;VQSLOD=4.7514;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,53:100:99:1382,0,1205 4 183815688 183815688 A G exonic DCTD synonymous SNV DCTD:NM_001012732:exon4:c.T348C:p.V116V,DCTD:NM_001921:exon4:c.T315C:p.V105V,DCTD:NM_001351743:exon5:c.T315C:p.V105V,DCTD:NM_001351744:exon5:c.T315C:p.V105V,DCTD:NM_001351745:exon5:c.T315C:p.V105V,DCTD:NM_001351750:exon5:c.T315C:p.V105V,DCTD:NM_001351753:exon5:c.T315C:p.V105V,DCTD:NM_001351747:exon6:c.T315C:p.V105V,DCTD:NM_001351748:exon6:c.T315C:p.V105V 0.31 0.52 0.2 0.22 0.29 0.22 0.2947 0.5010 0.1277 0.2188 0.3462 0.3076 0.2841 0.2493 0.38 0.51 0.31 0.39 0.42 rs4742 COSM3760499 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2837 0.5044 0.1404 0.2359 0.2255 0.3347 0.3095 0.2706 0.2506 0.3584 0.4961 0.1850 0.2119 0.2330 0.3505 0.3098 0.3041 het 1172.24 94 4 183815688 . A G 1172.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.640;DP=94;Dels=0.00;FS=12.365;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=0.223;QD=12.47;ReadPosRankSum=-0.359;VQSLOD=4.6958;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,48:94:99:1202,0,1292 4 184203886 184203886 G C exonic WWC2 nonsynonymous SNV WWC2:NM_024949:exon18:c.G2710C:p.D904H 0.25 0.2 0.41 0.24 0.26 0.23 0.3626 0.2934 0.5554 0.3706 0.3108 0.4051 0.3486 0.2481 0.26 0.22 0.29 0.3 . rs3814422 . . . . . . . . . . . . . 0.118 0.433 T 0.773 0.530 P 0.487 0.510 P 0.229 0.160 N 1 0.090 P 2.38 0.688 M 3.46 0.263 T -1.91 0.483 N 0.162 0.195 -0.947 0.416 T 0.000 0.000 T . . . 1.265 0.217 12.09 0.948 0.250 0.241 0.221 N c -0.572 -0.669 0.201 0.181 0.707 0.730 0 2.62 0.302 0.732 0.256 0.139 0.223 0.002 0.151 0.787 0.332 10.708 0.450 WW domain . . 0.2880 0.2150 0.4258 0.4296 0.2309 0.2311 0.2793 0.3177 0.2174 0.2500 0.2165 0.3816 0.3808 0.2092 0.2400 0.2654 0.2617 het 159.53 14 4 184203886 . G C 159.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.839;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.323;QD=11.40;ReadPosRankSum=0.581;VQSLOD=12.0688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:190,0,211 4 184367559 184367561 CTG - exonic CDKN2AIP nonframeshift deletion CDKN2AIP:NM_017632:exon3:c.722_724del:p.A242del 0.36 0.12 0.42 0.24 0.72 0.4 0.5767 0.1957 0.3546 0.2543 0.7052 0.7349 0.6167 0.4484 0.56 0.21 0.73 0.033 . rs147291711 COSM5713113 3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5752 0.1911 0.3785 0.6212 0.2535 0.7052 0.7402 0.6017 0.4491 0.5483 0.1983 0.4317 0.6913 0.2462 0.7052 0.7440 0.6789 het 3017.86 119 4 184367558 . TCTG T 3017.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.686;DP=119;FS=7.380;HRun=0;HaplotypeScore=470.6816;MQ=57.58;MQ0=0;MQRankSum=-0.012;QD=25.36;ReadPosRankSum=1.382;set=variant2 GT:AD:DP:GQ:PL 0/1:51,68:119:99:3057,0,2940 4 184426387 184426387 C T exonic ING2 synonymous SNV ING2:NM_001564:exon1:c.C39T:p.A13A 0.71 0.72 0.65 0.63 0.8 0.74 0.7597 0.7204 0.6294 0.6532 0.8226 0.8024 0.7677 0.7375 0.76 0.71 0.79 0.21 0.27 rs8872 COSM447656 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7378 0.7032 0.6078 0.7342 0.6156 0.7981 0.7972 0.7468 0.7235 0.7651 0.7209 0.6326 0.7980 0.6128 0.8055 0.8026 0.7944 hom 553.42 17 4 184426387 . C T 553.42 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.55;VQSLOD=13.4181;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:586,48,0 4 184600601 184600601 A G exonic TRAPPC11 synonymous SNV TRAPPC11:NM_021942:exon9:c.A927G:p.A309A,TRAPPC11:NM_199053:exon9:c.A927G:p.A309A 0.49 0.65 0.52 0.53 0.39 0.29 0.4451 0.6238 0.5265 0.5131 0.4755 0.4257 0.4404 0.3062 0.5 0.62 0.43 0.52 0.42 rs4241779 COSM3760504 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) Benign not_specified RCV000252950.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4466 0.6206 0.5185 0.4283 0.5113 0.4740 0.4256 0.4381 0.3098 0.4984 0.6121 0.5371 0.4139 0.5149 0.4751 0.4388 0.4510 het 1162.32 111 4 184600601 . A G 1162.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.261;DP=111;Dels=0.00;FS=3.545;HRun=1;HaplotypeScore=1.7608;MQ=59.66;MQ0=0;MQRankSum=0.722;QD=10.47;ReadPosRankSum=-0.906;VQSLOD=6.3223;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,49:111:99:1192,0,1658 4 184614874 184614874 C T exonic TRAPPC11 synonymous SNV TRAPPC11:NM_021942:exon21:c.C2370T:p.T790T,TRAPPC11:NM_199053:exon21:c.C2370T:p.T790T 0.22 0.33 0.2 0.18 0.22 0.15 0.2203 0.3196 0.1906 0.1697 0.2755 0.2265 0.2042 0.1585 0.26 0.32 0.22 0.22 0.28 rs4862234 COSM5425586 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000247514.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2173 0.3159 0.1926 0.1449 0.1691 0.2772 0.2302 0.2032 0.1573 0.2537 0.3088 0.2177 0.1424 0.1753 0.2729 0.2318 0.2243 het 984.28 92 4 184614874 . C T 984.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.871;DP=92;Dels=0.00;FS=2.878;HRun=0;HaplotypeScore=2.4527;MQ=59.27;MQ0=0;MQRankSum=-0.146;QD=10.70;ReadPosRankSum=-1.154;VQSLOD=6.2646;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,40:92:99:1014,0,1390 4 184615117 184615117 A C exonic TRAPPC11 nonsynonymous SNV TRAPPC11:NM_021942:exon22:c.A2434C:p.T812P,TRAPPC11:NM_199053:exon22:c.A2434C:p.T812P 0.044 0.0045 0.037 0.027 0.094 0.068 0.0828 0.0197 0.0300 0.0266 0.0989 0.1094 0.0672 0.0763 0.084 0.023 0.12 0.033 0.098 rs62358032 . . Benign not_specified RCV000244013.1 MedGen CN169374 . . . . . . 0.146 0.310 T 0.175 0.272 B 0.21 0.356 B 0.021 0.270 N 0.998 0.226 P 1.39 0.351 L . . . -0.59 0.206 N 0.108 0.219 -1.057 0.125 T 0.001 0.005 T . . . 0.595 0.151 8.124 0.947 0.247 0.224 0.215 N c -1.039 -1.024 0.003 0.100 0.707 0.730 0 -1.58 0.080 0.465 0.216 -0.150 0.108 0.004 0.165 0.805 0.338 7.156 0.247 . . . 0.0815 0.0190 0.0320 0.0476 0.0274 0.0965 0.1155 0.0779 0.0749 0.0782 0.0203 0.0442 0.0530 0.0253 0.1 0.1145 0.0855 het 2154.29 171 4 184615117 . A C 2154.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.955;DP=171;Dels=0.00;FS=10.806;HRun=1;HaplotypeScore=1.5983;MQ=59.29;MQ0=0;MQRankSum=1.306;QD=12.60;ReadPosRankSum=0.990;VQSLOD=3.8210;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,80:171:99:2184,0,2321 4 184618936 184618936 G C exonic TRAPPC11 nonsynonymous SNV TRAPPC11:NM_021942:exon25:c.G2799C:p.Q933H,TRAPPC11:NM_199053:exon25:c.G2799C:p.Q933H 0.14 0.035 0.063 0.21 0.13 0.27 0.1371 0.0476 0.0525 0.2434 0.1237 0.1287 0.1416 0.2360 0.097 0.048 0.12 0.16 0.11 rs62617790 COSM149767 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000244729.1 MedGen CN169374 . . . . . . 0.025 0.473 D 0.998 0.764 D 0.942 0.875 D 0.000 0.843 D 0.000 0.588 P 2.095 0.583 M . . . -1.72 0.468 N 0.135 0.427 -1.116 0.026 T 0.000 0.000 T . . . 3.780 0.511 23.4 0.998 0.855 0.992 0.922 D c 0.478 0.441 0.991 0.323 0.745 0.986 0 4.67 0.579 2.680 0.463 0.067 0.174 1.000 0.715 0.993 0.574 11.98 0.522 . . . 0.1332 0.0479 0.0519 0.1669 0.2388 0.1247 0.1252 0.1166 0.2322 0.1026 0.0514 0.0597 0.1556 0.2447 0.1204 0.1123 0.1334 het 1855.50 121 4 184618936 . G C 1855.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.211;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=58.65;MQ0=0;MQRankSum=0.351;QD=15.33;ReadPosRankSum=0.091;VQSLOD=6.1604;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,66:121:99:1885,0,1499 4 184932523 184932523 C T exonic STOX2 synonymous SNV STOX2:NM_020225:exon3:c.C2532T:p.L844L 0.0074 0.0008 0.019 . 0.015 0.0082 0.0119 0.0018 0.0093 0 0.0189 0.0150 0.0167 0.0102 0.012 0.0033 0.017 . . rs17365239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0121 0.0018 0.0087 0.0199 5.801e-05 0.0185 0.0148 0.0170 0.0100 0.0106 0.0033 0.0107 0.0265 0 0.0172 0.0140 0.0122 het 1298.07 92 4 184932523 . C T 1298.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.975;DP=92;Dels=0.00;FS=4.053;HRun=1;HaplotypeScore=0.9996;MQ=58.45;MQ0=0;MQRankSum=0.947;QD=14.11;ReadPosRankSum=-1.025;VQSLOD=4.6875;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,49:92:99:1328,0,1017 4 185310218 185310218 C T exonic IRF2 synonymous SNV IRF2:NM_002199:exon9:c.G744A:p.G248G 0.42 0.35 0.52 0.42 0.36 0.51 0.4220 0.3552 0.6058 0.4033 0.3744 0.3857 0.4042 0.5120 0.38 0.35 0.39 0.47 0.3 rs1131553 COSM149769 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4273 0.3473 0.5830 0.3904 0.4095 0.3715 0.3857 0.4140 0.5094 0.3864 0.3492 0.5312 0.4007 0.4330 0.3788 0.3945 0.4158 het 2415.34 167 4 185310218 . C T 2415.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.191;DP=167;DS;Dels=0.00;FS=5.978;HRun=0;HaplotypeScore=2.8399;MQ=59.67;MQ0=0;MQRankSum=1.037;QD=14.46;ReadPosRankSum=1.148;VQSLOD=5.0913;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,91:167:99:2445,0,1958 4 185587165 185587165 A G exonic PRIMPOL nonsynonymous SNV PRIMPOL:NM_001300767:exon5:c.A116G:p.Q39R,PRIMPOL:NM_001300768:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345891:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345892:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345893:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345895:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345896:exon6:c.A503G:p.Q168R,PRIMPOL:NM_001345899:exon6:c.A503G:p.Q168R,PRIMPOL:NM_152683:exon6:c.A503G:p.Q168R 0.97 0.88 0.99 1. 1. 1. 0.9873 0.8833 0.9940 0.9998 0.9989 0.9965 0.9900 0.9997 0.96 0.89 1. 0.96 0.89 rs2463447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9900 0.8804 0.9924 0.9992 0.9999 0.9989 0.9973 0.9941 0.9996 0.9642 0.8792 0.9893 1 1 0.9977 0.9981 0.9919 hom 1863.07 65 4 185587165 . A G 1863.07 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=58.06;MQ0=0;QD=28.66;VQSLOD=8.0195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1896,150,0 4 185599489 185599489 G A exonic PRIMPOL synonymous SNV PRIMPOL:NM_001345900:exon6:c.G423A:p.Q141Q,PRIMPOL:NM_001345901:exon6:c.G252A:p.Q84Q,PRIMPOL:NM_001300767:exon7:c.G561A:p.Q187Q,PRIMPOL:NM_001345894:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001345897:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001345898:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001300768:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345891:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345892:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345893:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345895:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345896:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_152683:exon8:c.G948A:p.Q316Q 0.061 0.027 0.11 0.001 0.12 0.073 0.1117 0.0418 0.1135 0.0004 0.1380 0.1383 0.1233 0.0942 0.1 0.04 0.14 0.065 0.041 rs34985821 COSM3760507 1(large_intestine) . . . . . . . . . . . 0.311 0.139 T . . . . . . . . . 1 0.090 P . . . . . . 0.04 0.065 N . . -1.005 0.285 T 0.001 0.002 T . . . -0.929 0.035 0.022 0.940 0.234 0.035 0.086 N c -0.704 -0.855 0.717 0.229 0.615 0.372 0 -1.91 0.072 -0.495 0.065 1.048 0.713 0.000 0.063 0.003 0.074 6.479 0.211 . ENSG00000164306.6|ENSG00000151725.7|ENSG00000151725.7|ENSG00000164306.6|ENSG00000164306.6|ENSG00000151725.7|ENSG00000164306.6|ENSG00000151725.7|ENSG00000164306.6|ENSG00000164306.6|ENSG00000164306.6|ENSG00000151725.7|ENSG00000151725.7|ENSG00000164306.6|ENSG00000151725.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid 0.1108 0.0368 0.1099 0.1578 0.0005 0.1371 0.1328 0.1215 0.0932 0.0979 0.0386 0.1332 0.1767 0.0006 0.1412 0.1284 0.1135 het 743.17 58 4 185599489 . G A 743.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.294;DP=58;Dels=0.00;FS=3.871;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=0.608;QD=12.81;ReadPosRankSum=-0.624;VQSLOD=6.1740;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,27:58:99:773,0,794 4 185615764 185615764 C A exonic PRIMPOL nonsynonymous SNV PRIMPOL:NM_001345899:exon12:c.C1262A:p.T421K,PRIMPOL:NM_001345900:exon12:c.C989A:p.T330K,PRIMPOL:NM_001345901:exon12:c.C818A:p.T273K,PRIMPOL:NM_001300767:exon13:c.C1127A:p.T376K,PRIMPOL:NM_001345897:exon13:c.C818A:p.T273K,PRIMPOL:NM_001345898:exon13:c.C815A:p.T272K,PRIMPOL:NM_001300768:exon14:c.C1511A:p.T504K,PRIMPOL:NM_001345894:exon14:c.C857A:p.T286K,PRIMPOL:NM_001345895:exon14:c.C1514A:p.T505K,PRIMPOL:NM_001345896:exon14:c.C1511A:p.T504K,PRIMPOL:NM_152683:exon14:c.C1514A:p.T505K,PRIMPOL:NM_001345891:exon15:c.C1553A:p.T518K,PRIMPOL:NM_001345892:exon15:c.C1550A:p.T517K,PRIMPOL:NM_001345893:exon15:c.C1550A:p.T517K 0.15 0.3 0.14 0.001 0.15 0.092 0.1473 0.2774 0.1258 0.0003 0.1478 0.1573 0.1523 0.1163 0.2 0.28 0.16 0.17 0.11 rs14969 COSM3760508 1(large_intestine) . . . . . . . . . . . 0.936 0.022 T 0.0 0.026 B 0.0 0.013 B 0.045 0.019 N 1 0.090 P -1.39 0.006 N 1.63 0.280 T -0.32 0.123 N 0.015 0.041 -0.977 0.357 T 0.000 0.000 T . . . -0.914 0.035 0.024 0.520 0.046 0.060 0.119 N c -1.502 -1.439 0.988 0.314 0.719 0.830 0 -0.002 0.133 -0.704 0.051 0.031 0.150 0.000 0.063 0.001 0.043 4.182 0.098 . ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.1441 0.2773 0.1289 0.1691 0.0005 0.1485 0.1567 0.1520 0.1170 0.1759 0.2696 0.1607 0.1921 0.0006 0.1525 0.1495 0.1329 het 839.72 93 4 185615764 . C A 839.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.741;DP=93;Dels=0.00;FS=5.394;HRun=2;HaplotypeScore=0.9159;MQ=59.50;MQ0=0;MQRankSum=-2.716;QD=9.03;ReadPosRankSum=-2.240;VQSLOD=2.6643;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,35:93:99:870,0,1577 4 185615768 185615768 T G exonic PRIMPOL synonymous SNV PRIMPOL:NM_001345899:exon12:c.T1266G:p.G422G,PRIMPOL:NM_001345900:exon12:c.T993G:p.G331G,PRIMPOL:NM_001345901:exon12:c.T822G:p.G274G,PRIMPOL:NM_001300767:exon13:c.T1131G:p.G377G,PRIMPOL:NM_001345897:exon13:c.T822G:p.G274G,PRIMPOL:NM_001345898:exon13:c.T819G:p.G273G,PRIMPOL:NM_001300768:exon14:c.T1515G:p.G505G,PRIMPOL:NM_001345894:exon14:c.T861G:p.G287G,PRIMPOL:NM_001345895:exon14:c.T1518G:p.G506G,PRIMPOL:NM_001345896:exon14:c.T1515G:p.G505G,PRIMPOL:NM_152683:exon14:c.T1518G:p.G506G,PRIMPOL:NM_001345891:exon15:c.T1557G:p.G519G,PRIMPOL:NM_001345892:exon15:c.T1554G:p.G518G,PRIMPOL:NM_001345893:exon15:c.T1554G:p.G518G 0.15 0.3 0.14 0.001 0.15 0.092 0.1473 0.2774 0.1259 0.0003 0.1481 0.1574 0.1520 0.1163 0.2 0.28 0.16 0.17 0.11 rs3184982 COSM3760509 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1441 0.2773 0.1289 0.1691 0.0005 0.1486 0.1568 0.1523 0.1170 0.1758 0.2696 0.1607 0.1921 0.0006 0.1525 0.1492 0.1329 het 853.73 97 4 185615768 . T G 853.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.462;DP=97;Dels=0.00;FS=5.287;HRun=2;HaplotypeScore=0.9159;MQ=59.52;MQ0=0;MQRankSum=-0.638;QD=8.80;ReadPosRankSum=-1.915;VQSLOD=4.7965;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,36:97:99:884,0,1608 4 185634144 185634144 T C exonic CENPU nonsynonymous SNV CENPU:NM_024629:exon7:c.A642G:p.I214M 0.14 0.29 0.14 0.001 0.15 0.092 0.1468 0.2690 0.1258 0.0003 0.1481 0.1578 0.1533 0.1162 0.2 0.27 0.16 0.16 0.09 rs4616798 COSM3760510 1(large_intestine) . . . . . . . . . . . 0.245 0.174 T 0.0 0.090 B 0.002 0.093 B 0.842 0.070 N 1 0.090 P -0.69 0.019 N 1.97 0.221 T 1.07 0.013 N 0.026 0.022 -0.938 0.430 T 0.000 0.000 T . . . -1.343 0.021 0.004 0.055 0.000 0.001 0.005 N c -1.529 -1.500 0.555 0.214 0.732 0.924 0 0.371 0.153 -3.064 0.007 -1.041 0.020 0.000 0.063 0.002 0.062 8.266 0.308 . ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.1423 0.2667 0.1257 0.1664 0.0004 0.1470 0.1556 0.1478 0.1130 0.1743 0.2642 0.1619 0.1933 0.0006 0.1499 0.1495 0.1312 het 800.29 81 4 185634144 . T C 800.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.111;DP=81;Dels=0.00;FS=3.259;HRun=0;HaplotypeScore=6.8871;MQ=58.22;MQ0=0;MQRankSum=0.932;QD=9.88;ReadPosRankSum=-0.768;VQSLOD=4.5086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,32:81:99:830,0,1179 4 185637699 185637699 A G exonic CENPU nonsynonymous SNV CENPU:NM_024629:exon6:c.T470C:p.I157T 0.14 0.29 0.14 0.001 0.15 0.092 0.1468 0.2691 0.1257 0.0003 0.1479 0.1578 0.1523 0.1164 0.2 0.27 0.16 0.16 0.12 rs6552804 COSM3760511 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.139 B 0.001 0.149 B 0.355 0.043 N 1 0.090 P 0.425 0.126 N 1.94 0.227 T 0.22 0.170 N 0.012 0.001 -0.972 0.367 T 0.000 0.000 T . . . -2.233 0.005 0.001 0.248 0.011 0.006 0.027 N c -1.992 -2.090 1.000 0.480 0.707 0.730 0 -7.79 0.011 -0.816 0.045 -0.781 0.033 0.000 0.063 0.001 0.043 1.544 0.024 . ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7|ENSG00000151725.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.1438 0.2685 0.1285 0.1692 0.0005 0.1488 0.1572 0.1518 0.1172 0.1750 0.2645 0.1615 0.1921 0.0006 0.1521 0.1503 0.1337 het 995.78 68 4 185637699 . A G 995.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.135;DP=68;Dels=0.00;FS=0.937;HRun=0;HaplotypeScore=0.7887;MQ=59.66;MQ0=0;MQRankSum=-1.318;QD=14.64;ReadPosRankSum=0.234;VQSLOD=6.2280;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,37:68:99:1026,0,809 4 185650154 185650154 G A exonic CENPU synonymous SNV CENPU:NM_024629:exon3:c.C132T:p.F44F 0.14 0.29 0.14 0.001 0.15 0.092 0.1468 0.2691 0.1257 0.0005 0.1480 0.1578 0.1520 0.1164 0.2 0.27 0.16 0.16 0.12 rs6818447 COSM3760512 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1435 0.2683 0.1280 0.1686 0.0007 0.1488 0.1569 0.1512 0.1165 0.1746 0.2637 0.1623 0.1921 0.0006 0.1523 0.1500 0.1334 het 1706.99 126 4 185650154 . G A 1706.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.203;DP=126;Dels=0.00;FS=5.451;HRun=2;HaplotypeScore=0.9332;MQ=59.22;MQ0=0;MQRankSum=0.961;QD=13.55;ReadPosRankSum=1.474;VQSLOD=5.5987;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,64:126:99:1737,0,1571 4 185686032 185686032 C T exonic ACSL1 synonymous SNV ACSL1:NM_001286711:exon14:c.G1305A:p.L435L,ACSL1:NM_001286708:exon15:c.G1407A:p.L469L,ACSL1:NM_001286710:exon15:c.G1407A:p.L469L,ACSL1:NM_001995:exon15:c.G1407A:p.L469L,ACSL1:NM_001286712:exon16:c.G894A:p.L298L 0.83 0.95 0.82 0.93 0.65 0.75 0.7348 0.9207 0.8736 0.9211 0.6438 0.6625 0.7084 0.7524 0.75 0.92 0.66 0.89 0.71 rs2292898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7368 0.9235 0.8641 0.7108 0.9246 0.6532 0.6597 0.7127 0.7519 0.7446 0.9187 0.8648 0.6854 0.9172 0.6444 0.6455 0.6994 hom 1829.63 66 4 185686032 . C T 1829.63 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.53;MQ0=0;QD=27.72;VQSLOD=8.5323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1863,147,0 4 186097045 186097045 C T exonic CFAP97 synonymous SNV CFAP97:NM_001292033:exon3:c.G1215A:p.P405P,CFAP97:NM_020827:exon3:c.G1215A:p.P405P 0.51 0.66 0.46 0.4 0.51 0.44 0.4846 0.6186 0.5229 0.3974 0.4902 0.4745 0.4699 0.4629 0.51 0.61 0.47 0.49 . rs6855305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4828 0.6167 0.5152 0.5234 0.4074 0.4969 0.4658 0.4823 0.4614 0.5023 0.6081 0.4893 0.5033 0.4061 0.4917 0.4562 0.4701 het 1583.69 101 4 186097045 . C T 1583.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.990;DP=101;Dels=0.00;FS=1.788;HRun=0;HaplotypeScore=0.8667;MQ=59.77;MQ0=0;MQRankSum=-0.333;QD=15.68;ReadPosRankSum=-0.079;VQSLOD=6.6211;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,58:101:99:1614,0,1100 4 186111639 186111639 T C exonic CFAP97 nonsynonymous SNV CFAP97:NM_001292033:exon2:c.A712G:p.T238A,CFAP97:NM_020827:exon2:c.A712G:p.T238A 0.43 0.25 0.52 0.58 0.48 0.41 0.4797 0.2946 0.4652 0.5903 0.5077 0.5067 0.4866 0.4213 0.44 0.3 0.51 0.45 . rs1133657 COSM5904787;COSM5904788 1(skin) . . . . . . . . . . . 0.158 0.291 T 0.061 0.217 B 0.023 0.188 B 0.004 0.348 N 1 0.090 P 0.69 0.170 N 1.59 0.414 T 0.13 0.064 N 0.011 0.001 -0.953 0.405 T 0.000 0.000 T . . . -0.677 0.046 0.082 0.805 0.128 0.525 0.289 D c -0.782 -0.724 1.000 0.747 0.757 0.989 0 4.35 0.513 3.576 0.534 0.122 0.211 0.442 0.263 0.017 0.128 11.184 0.477 . ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000109762.11|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8|ENSG00000164323.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.4831 0.2947 0.4707 0.4446 0.5780 0.5001 0.5148 0.4846 0.4222 0.4624 0.3096 0.4916 0.4669 0.5795 0.5009 0.5252 0.5072 het 731.41 60 4 186111639 . T C 731.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.201;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7356;MQ=58.35;MQ0=0;MQRankSum=-0.386;QD=12.19;ReadPosRankSum=0.253;VQSLOD=5.5352;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:761,0,869 4 186112111 186112111 G A exonic CFAP97 synonymous SNV CFAP97:NM_001292033:exon2:c.C240T:p.P80P,CFAP97:NM_020827:exon2:c.C240T:p.P80P 0.54 0.5 0.55 0.6 0.5 0.56 0.5317 0.5379 0.4887 0.6040 0.5121 0.5287 0.5416 0.5399 0.54 0.55 0.54 0.6 . rs3108237 COSM3760515;COSM3760516 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5293 0.5391 0.4943 0.4832 0.5920 0.5032 0.5356 0.5277 0.5391 0.5424 0.5433 0.5227 0.5033 0.5942 0.5080 0.5464 0.5399 het 582.87 52 4 186112111 . G A 582.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.602;DP=52;Dels=0.00;FS=4.124;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=0.824;QD=11.21;ReadPosRankSum=-1.287;VQSLOD=6.1247;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:613,0,790 4 186112135 186112135 G A exonic CFAP97 synonymous SNV CFAP97:NM_001292033:exon2:c.C216T:p.N72N,CFAP97:NM_020827:exon2:c.C216T:p.N72N 0.0012 . 0.0014 . 0.005 . 0.0042 0.0013 0.0018 0 0.0024 0.0069 0 0.0003 0.005 0.0019 0.0064 . . rs147009616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0040 0.0012 0.0024 0.0002 0 0.0020 0.0072 0.0035 0.0005 0.0048 0.0016 0.0048 0 0 0.0017 0.0079 0.0071 het 526.73 50 4 186112135 . G A 526.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.268;DP=50;Dels=0.00;FS=2.504;HRun=0;HaplotypeScore=1.9655;MQ=59.54;MQ0=0;MQRankSum=0.885;QD=10.53;ReadPosRankSum=1.760;VQSLOD=4.4586;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,20:50:99:557,0,817 4 186294198 186294198 C T exonic LRP2BP synonymous SNV LRP2BP:NM_018409:exon6:c.G615A:p.G205G 0.23 0.32 0.27 0.18 0.19 0.16 0.2002 0.2848 0.3225 0.1904 0.1367 0.1852 0.2104 0.1518 0.22 0.28 0.19 0.23 0.2 rs3797026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2004 0.2891 0.3067 0.2009 0.1939 0.1270 0.1852 0.1988 0.1526 0.2057 0.2839 0.2758 0.1523 0.1969 0.1342 0.1765 0.1843 het 1511.14 104 4 186294198 . C T 1511.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.367;DP=104;Dels=0.00;FS=5.135;HRun=2;HaplotypeScore=3.8281;MQ=59.46;MQ0=0;MQRankSum=1.755;QD=14.53;ReadPosRankSum=1.396;VQSLOD=4.7128;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,57:104:99:1541,0,1224 4 186299260 186299260 A G exonic LRP2BP synonymous SNV LRP2BP:NM_018409:exon1:c.T81C:p.F27F 0.37 0.61 0.32 0.25 0.26 0.32 0.2943 0.5468 0.3585 0.2546 0.2316 0.2525 0.2941 0.3054 0.35 0.54 0.26 0.36 0.26 rs2030802 COSM1131164 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2891 0.5541 0.3499 0.2449 0.2567 0.2232 0.2525 0.2785 0.3059 0.3304 0.5400 0.3381 0.2086 0.2580 0.2374 0.2429 0.2888 het 1004.74 81 4 186299260 . A G 1004.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.499;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3046;MQ=59.31;MQ0=0;MQRankSum=0.921;QD=12.40;ReadPosRankSum=-0.024;VQSLOD=6.4298;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,40:81:99:1035,0,1018 4 186379371 186379371 G A exonic CCDC110 synonymous SNV CCDC110:NM_001145411:exon5:c.C2259T:p.Y753Y,CCDC110:NM_152775:exon6:c.C2370T:p.Y790Y 0.98 0.92 0.99 1. 1. 1. 0.9928 0.9212 0.9967 1 1 1.0000 0.9978 0.9996 0.97 0.92 1. 0.98 0.98 rs7687202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9212 0.9963 1 1 1 0.9999 0.9981 0.9994 0.9783 0.9237 0.9964 1 1 1 0.9999 0.9980 hom 1685.20 53 4 186379371 . G A 1685.20 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=31.80;VQSLOD=9.3816;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1718,141,0 4 186379899 186379899 G C exonic CCDC110 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.C1731G:p.I577M,CCDC110:NM_152775:exon6:c.C1842G:p.I614M 0.38 0.28 0.36 0.28 0.54 0.49 0.4757 0.3337 0.2768 0.2717 0.4638 0.5606 0.5067 0.4689 0.49 0.33 0.56 0.4 0.49 rs35596415 COSM3760519 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.850 0.070 N 1 0.090 P -2.2 0.001 N 1.46 0.322 T 0.46 0.035 N 0.022 0.006 -0.940 0.426 T 0.000 0.000 T . . . -1.935 0.009 0.001 0.117 0.002 0.004 0.020 N c -1.401 -1.292 0.991 0.324 0.609 0.349 0 0.793 0.177 -0.417 0.071 -0.342 0.072 0.001 0.137 0.073 0.177 7.083 0.243 . ENSG00000168491.5 Testis 0.4667 0.3318 0.2983 0.5853 0.2655 0.4607 0.5559 0.5118 0.4637 0.4474 0.3401 0.3565 0.6026 0.2516 0.4610 0.5272 0.4867 hom 2714.82 86 4 186379899 . G C 2714.82 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.73;MQ0=0;QD=31.57;VQSLOD=8.5542;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2748,205,0 4 186380243 186380243 A C exonic CCDC110 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.T1387G:p.Y463D,CCDC110:NM_152775:exon6:c.T1498G:p.Y500D 0.38 0.28 0.36 0.29 0.54 0.49 0.4806 0.3402 0.2802 0.2765 0.4668 0.5667 0.5034 0.4708 0.48 0.33 0.56 0.4 0.28 rs59319722 COSM3760520 1(kidney);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.066 0.219 N 1.000 0.090 P -2.28 0.001 N 3.63 0.044 T 2.28 0.004 N 0.043 0.023 -0.963 0.386 T 0.000 0.000 T . . . -1.353 0.021 0.004 0.223 0.009 0.008 0.033 N c -1.139 -0.924 1.000 0.416 0.581 0.326 0 4.25 0.495 1.150 0.310 0.067 0.174 0.961 0.334 0.664 0.301 7.408 0.260 . ENSG00000168491.5 Testis 0.4611 0.3307 0.2902 0.5802 0.2595 0.4563 0.5517 0.5033 0.4564 0.4472 0.3406 0.3570 0.6026 0.25 0.4601 0.5272 0.4845 hom 1157.70 33 4 186380243 . A C 1157.70 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;QD=35.08;VQSLOD=9.7367;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:93.30:1191,93,0 4 186380295 186380295 A G exonic CCDC110 synonymous SNV CCDC110:NM_001145411:exon5:c.T1335C:p.N445N,CCDC110:NM_152775:exon6:c.T1446C:p.N482N 0.29 0.15 0.32 0.28 0.44 0.34 0.4003 0.2095 0.2523 0.2682 0.3721 0.4913 0.4163 0.3336 0.4 0.21 0.5 0.3 0.39 rs36007437 COSM3760521 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3899 0.2056 0.2619 0.4853 0.2569 0.3730 0.4851 0.4394 0.3201 0.3661 0.2168 0.3106 0.5433 0.2485 0.3725 0.4618 0.3969 hom 2335.07 70 4 186380295 . A G 2335.07 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=59.47;MQ0=0;QD=33.36;VQSLOD=9.6636;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2368,181,0 4 186380515 186380515 G A exonic CCDC110 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.C1115T:p.S372F,CCDC110:NM_152775:exon6:c.C1226T:p.S409F 0.38 0.28 0.36 0.28 0.54 0.49 0.4753 0.3308 0.2772 0.2722 0.4639 0.5607 0.5033 0.4690 0.49 0.33 0.56 0.39 0.49 rs11132306 COSM3760522 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.980 0.078 N 1 0.090 P -1.895 0.002 N 3.3 0.064 T -0.73 0.206 N 0.045 0.029 -0.972 0.368 T 0.000 0.000 T . . . -1.645 0.014 0.002 0.111 0.002 0.003 0.018 N c -1.523 -1.405 0.991 0.321 0.554 0.283 0 0.54 0.163 -0.877 0.043 0.244 0.267 0.000 0.063 0.420 0.257 3.519 0.072 . ENSG00000168491.5 Testis 0.4664 0.3322 0.2984 0.5857 0.2663 0.4612 0.5558 0.5111 0.4636 0.4470 0.3403 0.3573 0.6026 0.2484 0.4603 0.5266 0.4886 hom 4163.70 131 4 186380515 . G A 4163.70 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=59.18;MQ0=0;QD=31.78;VQSLOD=9.2392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4163,322,0 4 186380846 186380846 A T exonic CCDC110 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.T784A:p.L262M,CCDC110:NM_152775:exon6:c.T895A:p.L299M 0.39 0.28 0.36 0.28 0.54 0.49 0.4765 0.3398 0.2779 0.2724 0.4638 0.5611 0.5044 0.4690 0.49 0.34 0.56 0.4 0.49 rs7698680 COSM447676 3(haematopoietic_and_lymphoid_tissue);1(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.981 0.081 N 1 0.090 P -1.445 0.006 N 3.35 0.060 T 0.33 0.075 N 0.025 0.009 -0.944 0.420 T 0.000 0.000 T . . . -2.866 0.002 0.001 0.059 0.000 0.014 0.047 N c -1.596 -1.464 0.154 0.175 0.554 0.283 0 2.03 0.256 -0.154 0.100 -1.287 0.014 0.000 0.063 0.003 0.074 3.807 0.082 . ENSG00000168491.5 Testis 0.4677 0.3376 0.3000 0.5856 0.2669 0.4616 0.5563 0.5128 0.4657 0.4486 0.3467 0.3570 0.6026 0.2494 0.4604 0.5261 0.4867 hom 3996.49 131 4 186380846 . A T 3996.49 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5348;MQ=59.53;MQ0=0;QD=30.51;VQSLOD=6.9863;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:3996,313,0 4 186381115 186381115 G T exonic CCDC110 nonsynonymous SNV CCDC110:NM_001145411:exon5:c.C515A:p.P172Q,CCDC110:NM_152775:exon6:c.C626A:p.P209Q 0.39 0.28 0.36 0.28 0.54 0.49 0.4760 0.3357 0.2778 0.2727 0.4645 0.5605 0.5033 0.4688 0.48 0.33 0.56 0.4 0.4 rs7699687 COSM3760523 2(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.128 0.187 N 1 0.090 P -1.485 0.005 N 3.7 0.336 T 2.05 0.004 N 0.237 0.290 -0.913 0.465 T 0.000 0.000 T . . . -2.015 0.008 0.001 0.088 0.001 0.002 0.011 N c -1.460 -1.284 0.414 0.202 0.554 0.283 0 1.82 0.241 1.062 0.300 -0.253 0.089 0.240 0.245 0.018 0.130 8.357 0.313 . ENSG00000168491.5 Testis 0.4667 0.3362 0.2992 0.5855 0.2663 0.4607 0.5554 0.5125 0.4641 0.4485 0.3456 0.3556 0.6026 0.2497 0.4610 0.5266 0.4867 hom 1329.54 40 4 186381115 . G T 1329.54 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;QD=33.24;VQSLOD=8.9463;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1363,111,0 4 186381165 186381165 G A exonic CCDC110 synonymous SNV CCDC110:NM_001145411:exon5:c.C465T:p.D155D,CCDC110:NM_152775:exon6:c.C576T:p.D192D 0.39 0.28 0.36 0.28 0.54 0.49 0.4765 0.3364 0.2783 0.2731 0.4636 0.5608 0.5044 0.4694 0.49 0.33 0.56 0.4 0.41 rs7699724 COSM4158945 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4667 0.3364 0.2994 0.5853 0.2668 0.4607 0.5554 0.5121 0.4640 0.4489 0.3461 0.3556 0.6026 0.2488 0.4610 0.5271 0.4877 hom 1131.87 36 4 186381165 . G A 1131.87 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.97;MQ0=0;QD=31.44;VQSLOD=8.2294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1165,99,0 4 186382206 186382206 A G exonic CCDC110 synonymous SNV CCDC110:NM_152775:exon5:c.T345C:p.D115D 0.38 0.28 0.36 0.28 0.54 0.49 0.4751 0.3309 0.2777 0.2723 0.4639 0.5608 0.5033 0.4672 0.48 0.33 0.56 0.37 0.47 rs11132309 COSM3760524 3(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4604 0.3242 0.2777 0.5812 0.2558 0.4594 0.5528 0.5048 0.4493 0.4229 0.3152 0.3350 0.5922 0.225 0.4372 0.5042 0.4687 hom 3507.55 113 4 186382206 . A G 3507.55 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1928;MQ=53.02;MQ0=0;QD=31.04;VQSLOD=4.0928;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3507,271,0 4 186423637 186423637 G A exonic PDLIM3 synonymous SNV PDLIM3:NM_001257963:exon5:c.C405T:p.V135V,PDLIM3:NM_001114107:exon7:c.C762T:p.V254V,PDLIM3:NM_001257962:exon7:c.C642T:p.V214V,PDLIM3:NM_014476:exon8:c.C906T:p.V302V 0.66 0.31 0.79 0.81 0.82 0.71 0.7830 0.3708 0.7549 0.8066 0.8770 0.8484 0.7881 0.7463 0.7 0.39 0.85 0.61 0.7 rs4635850 COSM4808685;COSM4808684 1(pancreas) Benign not_specified RCV000127429.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7885 0.3658 0.7502 0.7502 0.8093 0.8744 0.8525 0.7823 0.7478 0.7177 0.3719 0.7792 0.7450 0.8156 0.8817 0.8604 0.8 hom 3989.87 131 4 186423637 . G A 3989.87 Mask AC=2;AF=1.00;AN=2;DP=131;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5566;MQ=59.65;MQ0=0;QD=30.46;VQSLOD=8.5237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:131:99:3989,331,0 4 186541301 186541301 A G exonic SORBS2 synonymous SNV SORBS2:NM_001145674:exon8:c.T2220C:p.R740R,SORBS2:NM_001145675:exon8:c.T684C:p.R228R,SORBS2:NM_001145670:exon14:c.T1140C:p.R380R,SORBS2:NM_001145672:exon14:c.T1191C:p.R397R,SORBS2:NM_021069:exon14:c.T2508C:p.R836R,SORBS2:NM_001145671:exon16:c.T1401C:p.R467R,SORBS2:NM_001145673:exon16:c.T1680C:p.R560R,SORBS2:NM_003603:exon16:c.T1206C:p.R402R,SORBS2:NM_001270771:exon17:c.T2808C:p.R936R 0.041 0.0045 0.049 . 0.1 0.063 0.0797 0.0187 0.0478 0.0003 0.0776 0.1077 0.0672 0.0705 0.08 0.022 0.11 0.065 0.14 rs61753946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0787 0.0177 0.0471 0.1071 0.0003 0.0740 0.1083 0.0933 0.0715 0.0680 0.0217 0.0526 0.1126 0 0.0750 0.1008 0.0663 het 2904.48 245 4 186541301 . A G 2904.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.673;DP=245;DS;Dels=0.00;FS=5.718;HRun=0;HaplotypeScore=12.9968;MQ=59.16;MQ0=0;MQRankSum=-0.315;QD=11.86;ReadPosRankSum=-0.021;VQSLOD=2.8022;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,114:245:99:2934,0,3448 4 186544879 186544879 G C exonic SORBS2 synonymous SNV SORBS2:NM_001145674:exon7:c.C1404G:p.P468P,SORBS2:NM_021069:exon13:c.C1692G:p.P564P,SORBS2:NM_001270771:exon16:c.C1992G:p.P664P 0.049 0.052 0.04 . 0.085 0.067 0.0789 0.0616 0.0438 0.0006 0.0863 0.0993 0.0701 0.0719 0.069 0.046 0.081 0.087 0.09 rs61910743 COSM3760526;COSM3760525 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0767 0.0614 0.0457 0.0979 0.0003 0.0827 0.0974 0.0878 0.0736 0.0750 0.0625 0.0501 0.1060 0 0.0825 0.0900 0.0645 het 874.19 78 4 186544879 . G C 874.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.281;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=59.11;MQ0=0;MQRankSum=0.781;QD=11.21;ReadPosRankSum=-0.303;VQSLOD=5.9722;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:904,0,994 4 187004074 187004074 C T exonic TLR3 nonsynonymous SNV TLR3:NM_003265:exon4:c.C1234T:p.L412F 0.23 0.026 0.31 0.33 0.32 0.26 0.2712 0.0658 0.2852 0.3374 0.3190 0.2952 0.3079 0.2367 0.22 0.071 0.29 0.21 0.27 rs3775291 COSM149771 1(stomach);8(soft_tissue);1(pancreas);1(large_intestine) other|Benign Human_immunodeficiency_virus_type_1\x2c_susceptibility_to|not_specified RCV000034357.3|RCV000455666.1 MedGen:OMIM|MedGen C1836230:609423|CN169374 . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 N 0.000 0.588 P 4.14 0.976 H -1.36 0.801 T -3.54 0.686 D 0.481 0.530 -1.355 0.000 T 0.000 0.000 T . . . 4.185 0.561 23.8 0.999 0.959 0.982 0.800 D c 0.775 0.615 1.000 0.417 0.554 0.283 0 4.95 0.648 4.103 0.573 0.935 0.490 0.999 0.424 0.336 0.243 14.798 0.694 Leucine-rich repeat domain\x2c L domain-like . . 0.2789 0.0649 0.2982 0.2555 0.3381 0.3239 0.2970 0.2930 0.2376 0.2382 0.0688 0.2866 0.2715 0.3458 0.3248 0.2981 0.2959 het 833.91 74 4 187004074 . C T 833.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.637;DP=74;Dels=0.00;FS=1.943;HRun=1;HaplotypeScore=0.0000;MQ=58.41;MQ0=0;MQRankSum=1.914;QD=11.27;ReadPosRankSum=-3.531;VQSLOD=3.2473;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,34:74:99:864,0,1126 4 187004217 187004217 C T exonic TLR3 synonymous SNV TLR3:NM_003265:exon4:c.C1377T:p.F459F 0.27 0.19 0.27 0.34 0.27 0.32 0.3007 0.1997 0.3567 0.3277 0.3010 0.2989 0.2819 0.3185 0.27 0.2 0.31 0.2 0.2 rs3775290 COSM1428947 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000454544.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3023 0.1951 0.3498 0.2385 0.3231 0.2942 0.3026 0.2923 0.3189 0.2733 0.1964 0.3556 0.2133 0.3298 0.2815 0.3045 0.3051 het 1284.11 100 4 187004217 . C T 1284.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.736;DP=100;Dels=0.00;FS=5.084;HRun=4;HaplotypeScore=0.0000;MQ=58.56;MQ0=0;MQRankSum=-1.197;QD=12.84;ReadPosRankSum=0.197;VQSLOD=4.6458;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,48:100:99:1314,0,1381 4 187074833 187074833 A G exonic FAM149A nonsynonymous SNV FAM149A:NM_001006655:exon5:c.A121G:p.K41E,FAM149A:NM_001350178:exon5:c.A121G:p.K41E,FAM149A:NM_001350179:exon5:c.A121G:p.K41E,FAM149A:NM_015398:exon5:c.A121G:p.K41E 0.88 0.93 0.86 0.82 0.89 0.88 0.8617 0.9067 0.7827 0.8125 0.8412 0.8744 0.8711 0.8711 0.89 0.9 0.88 0.84 0.79 rs4862650 COSM3760527;COSM3760528 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.989 0.243 P -3.015 0.000 N 1.29 0.358 T 3.04 0.001 N 0.068 0.312 -0.956 0.399 T 0.000 0.000 T . . . 0.046 0.098 3.039 0.562 0.054 0.014 0.046 N c -0.975 -0.665 0.887 0.257 0.706 0.609 0 5.45 0.796 3.558 0.532 0.092 0.196 1.000 0.715 0.002 0.062 13.780 0.624 . . . 0.8574 0.9020 0.7970 0.8215 0.8080 0.8464 0.8787 0.8671 0.8690 0.8732 0.9008 0.8305 0.8377 0.8265 0.8502 0.8699 0.8837 hom 7036.73 226 4 187074833 . A G 7036.73 Mask AC=2;AF=1.00;AN=2;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4542;MQ=59.38;MQ0=0;QD=31.14;VQSLOD=4.2612;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:226:99:6990,590,0 4 187077206 187077206 A G exonic FAM149A nonsynonymous SNV FAM149A:NM_001006655:exon7:c.A436G:p.K146E,FAM149A:NM_001350178:exon7:c.A436G:p.K146E,FAM149A:NM_001350179:exon7:c.A436G:p.K146E,FAM149A:NM_015398:exon7:c.A436G:p.K146E 0.89 0.95 0.86 0.82 0.89 0.88 0.8668 0.9398 0.7791 0.8098 0.8465 0.8796 0.8767 0.8678 0.9 0.94 0.88 0.86 0.95 rs4862653 COSM3760530;COSM3760529 1(large_intestine) . . . . . . . . . . . 0.126 0.341 T 0.021 0.217 B 0.009 0.193 B 0.004 0.340 N 1 0.090 P 2.495 0.729 M 2.28 0.174 T -2.4 0.548 N 0.117 0.217 -1.057 0.124 T 0.000 0.000 T . . . 0.475 0.140 7.240 0.857 0.155 0.239 0.220 N c -0.978 -1.006 0.299 0.192 0.706 0.609 0 3.0 0.336 2.970 0.487 -0.649 0.041 0.037 0.206 0.000 0.016 9.404 0.374 . . . 0.8614 0.9390 0.7936 0.8177 0.8058 0.8513 0.8837 0.8717 0.8663 0.8871 0.9372 0.8317 0.8344 0.8236 0.8562 0.8758 0.8921 hom 3342.42 114 4 187077206 . A G 3342.42 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5213;MQ=59.47;MQ0=0;QD=29.32;VQSLOD=8.7163;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3342,280,0 4 187078785 187078785 A G exonic FAM149A nonsynonymous SNV FAM149A:NM_001006655:exon8:c.A641G:p.H214R,FAM149A:NM_001350178:exon8:c.A641G:p.H214R,FAM149A:NM_001350179:exon8:c.A641G:p.H214R,FAM149A:NM_015398:exon8:c.A641G:p.H214R 0.89 0.96 0.86 0.82 0.89 0.88 0.8691 0.9418 0.7791 0.8134 0.8483 0.8823 0.8797 0.8697 0.9 0.94 0.88 0.83 0.89 rs2276924 COSM3760531;COSM3760532 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.001 0.436 N 1 0.090 P -1.4 0.006 N 2.89 0.102 T 2.29 0.003 N 0.037 0.214 -0.989 0.329 T 0.000 0.000 T . . . -3.023 0.001 0.001 0.238 0.010 0.000 0.003 N c -1.690 -1.558 0.855 0.251 0.706 0.609 0 2.01 0.254 0.392 0.204 -1.001 0.022 0.002 0.151 0.000 0.016 9.476 0.378 . . . 0.8634 0.9412 0.7950 0.8182 0.8087 0.8531 0.8859 0.8736 0.8682 0.8878 0.9379 0.8329 0.8344 0.8245 0.8571 0.8764 0.8941 hom 3565.77 123 4 187078785 . A G 3565.77 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6202;MQ=59.57;MQ0=1;QD=28.99;VQSLOD=7.2668;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,122:123:99:3565,301,0 4 187113041 187113041 C G exonic CYP4V2 nonsynonymous SNV CYP4V2:NM_207352:exon1:c.C64G:p.L22V 0.41 0.43 0.44 0.27 0.52 0.38 0.5289 0.5037 0.4935 0.3795 0.5811 0.5753 0.5312 0.4485 0.46 0.41 0.49 0.011 0.082 rs1055138 COSM3749867 2(thyroid);3(large_intestine) other|Benign|Likely benign|Benign Bietti_crystalline_corneoretinal_dystrophy|not_specified|not_provided|Corneal_Dystrophy\x2c_Recessive RCV000032544.3|RCV000082840.5|RCV000132719.1|RCV000278726.1 MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen C1859486:210370:ORPHA41751|CN169374|CN221809|CN239343 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.490 0.050 N 1 0.090 P -0.895 0.014 N -0.18 0.658 T -0.19 0.100 N 0.031 0.012 -0.947 0.415 T 0.000 0.000 T . . . -1.245 0.024 0.005 0.521 0.046 0.004 0.021 N c -1.409 -1.403 1.000 0.747 0.267 0.040 1 0.679 0.171 -0.996 0.038 -0.649 0.041 0.000 0.063 0.000 0.016 7.120 0.245 . ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000109794.9|ENSG00000109794.9|ENSG00000164344.11|ENSG00000109794.9|ENSG00000109794.9|ENSG00000109794.9|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000109794.9|ENSG00000109794.9|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000250327.1|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000109794.9|ENSG00000109794.9|ENSG00000145476.11|ENSG00000109794.9|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000109794.9|ENSG00000164344.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000250327.1|ENSG00000109794.9|ENSG00000145476.11|ENSG00000088926.9|ENSG00000269302.1|ENSG00000109794.9|ENSG00000109794.9|ENSG00000164344.11|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000269302.1|ENSG00000164344.11|ENSG00000109794.9|ENSG00000145476.11|ENSG00000269302.1|ENSG00000164344.11|ENSG00000145476.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4440 0.4268 0.3864 0.4687 0.2719 0.4526 0.5052 0.4593 0.4035 0.4629 0.4272 0.4005 0.4333 0.2874 0.4630 0.5053 0.4857 het 89.73 10 4 187113041 . C G 89.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.851;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.16;MQ0=0;MQRankSum=0.851;QD=8.97;ReadPosRankSum=-0.336;VQSLOD=5.3340;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:120,0,104 4 187120211 187120211 C A exonic CYP4V2 nonsynonymous SNV CYP4V2:NM_207352:exon6:c.C775A:p.Q259K 0.56 0.6 0.47 0.41 0.65 0.63 0.5852 0.6218 0.3528 0.3977 0.6623 0.6306 0.5837 0.6094 0.63 0.62 0.63 0.54 0.61 rs13146272 COSM4003013 4(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Bietti_crystalline_corneoretinal_dystrophy|Corneal_Dystrophy\x2c_Recessive RCV000244699.1|RCV000268361.1|RCV000358574.1 MedGen|MedGen:OMIM:Orphanet|MedGen CN169374|C1859486:210370:ORPHA41751|CN239343 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.182 P -2.155 0.001 N -0.18 0.658 T 2.03 0.004 N 0.019 0.004 -0.942 0.423 T 0.000 0.000 T . . . 0.485 0.141 7.317 0.271 0.013 0.098 0.153 N c -1.221 -1.027 0.806 0.242 0.615 0.372 0 0.977 0.188 2.225 0.424 -0.215 0.099 0.943 0.325 0.040 0.157 5.992 0.186 . ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11|ENSG00000164344.11|ENSG00000145476.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5745 0.6164 0.3732 0.5167 0.3938 0.6646 0.6366 0.5509 0.6066 0.6151 0.6127 0.4270 0.5166 0.4045 0.6551 0.6430 0.6063 het 978.57 82 4 187120211 . C A 978.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.030;DP=82;Dels=0.00;FS=0.925;HRun=1;HaplotypeScore=5.8979;MQ=59.47;MQ0=0;MQRankSum=2.758;QD=11.93;ReadPosRankSum=-0.501;VQSLOD=4.0409;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,39:82:99:1009,0,1168 4 187122319 187122319 T G exonic CYP4V2 synonymous SNV CYP4V2:NM_207352:exon7:c.T810G:p.A270A 0.58 0.64 0.49 0.41 0.67 0.63 0.5982 0.6165 0.3643 0.3968 0.6807 0.6489 0.5993 0.6178 0.64 0.62 0.65 0.51 0.59 rs3736455 COSM149773 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign|Benign not_specified|Bietti_crystalline_corneoretinal_dystrophy|Corneal_Dystrophy\x2c_Recessive RCV000153131.4|RCV000273389.1|RCV000356224.1 MedGen|MedGen:OMIM:Orphanet|MedGen CN169374|C1859486:210370:ORPHA41751|CN239343 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5893 0.6150 0.3844 0.5282 0.3928 0.6843 0.6576 0.5715 0.6161 0.6288 0.6109 0.4353 0.5364 0.4046 0.6798 0.6650 0.6173 het 1280.90 89 4 187122319 . T G 1280.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.213;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9315;MQ=58.42;MQ0=0;MQRankSum=0.311;QD=14.39;ReadPosRankSum=-1.746;VQSLOD=5.4235;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,51:89:99:1311,0,990 4 187158034 187158034 G A exonic KLKB1 nonsynonymous SNV KLKB1:NM_000892:exon5:c.G428A:p.S143N,KLKB1:NM_001318394:exon6:c.G314A:p.S105N 0.6 0.78 0.59 0.68 0.52 0.39 0.5365 0.7374 0.6354 0.6668 0.5660 0.5037 0.5165 0.3940 0.58 0.74 0.51 0.63 0.54 rs3733402 COSM3760537;COSM149774 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) Pathogenic Prekallikrein_deficiency RCV000012817.25 MedGen:OMIM:Orphanet:SNOMED_CT C0272339:612423:ORPHA749:48976006 Obesity-related traits . -0.04 23251661 rs3733402 9E-8 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.559 N 1 0.090 P . . . -2.33 0.879 D 2.36 0.004 N 0.015 0.115 -1.014 0.258 T 0.000 0.000 T . . . -0.718 0.044 0.065 0.166 0.005 0.001 0.007 N c -0.404 -0.476 0.575 0.215 0.554 0.283 0 4.91 0.638 4.212 0.581 0.168 0.246 0.518 0.269 0.293 0.236 9.204 0.362 Apple domain|PAN/Apple domain;PAN/Apple domain ENSG00000088926.9|ENSG00000088926.9|ENSG00000088926.9|ENSG00000088926.9|ENSG00000145476.11 Artery_Tibial|Brain_Cortex|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.5385 0.7364 0.6300 0.4368 0.6691 0.5768 0.5055 0.5321 0.3928 0.6006 0.7397 0.6456 0.4868 0.6770 0.5929 0.5175 0.5316 het 1050.96 96 4 187158034 . G A 1050.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.862;DP=96;Dels=0.00;FS=0.776;HRun=1;HaplotypeScore=2.7627;MQ=58.67;MQ0=0;MQRankSum=-1.146;QD=10.95;ReadPosRankSum=-0.347;VQSLOD=5.4580;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,44:96:99:1081,0,1326 4 187179210 187179210 T C exonic KLKB1 nonsynonymous SNV KLKB1:NM_001318394:exon15:c.T1507C:p.W503R 0.66 0.63 0.68 0.85 0.7 0.44 0.6682 0.6564 0.7240 0.86 0.6853 0.6804 0.6740 0.4793 0.68 0.66 0.69 0.62 0.66 rs925453 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . . . . . . . . . -0.929 0.443 T 0.000 0.000 T . . . -0.627 0.049 0.107 0.277 0.014 0.020 0.060 N c -2.159 -2.324 1.000 0.747 0.672 0.522 0 -12.1 0.000 -3.631 0.005 -3.087 0.001 0.000 0.063 0.002 0.062 10.770 0.453 Serine proteases\x2c trypsin domain ENSG00000088926.9|ENSG00000088926.9|ENSG00000088926.9|ENSG00000145476.11|ENSG00000088926.9 Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.6744 0.6575 0.7278 0.6661 0.8598 0.6958 0.6819 0.6934 0.4775 0.6957 0.6677 0.7392 0.6887 0.8533 0.7119 0.6905 0.6704 hom 4182.87 139 4 187179210 . T C 4182.87 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.98;MQ0=0;QD=30.09;VQSLOD=8.8016;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4182,328,0 4 187205402 187205402 A G exonic F11 nonsynonymous SNV F11:NM_000128:exon11:c.A1292G:p.H431R . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.971 0.708 D 0.000 0.441 D 1 0.810 D 3.57 0.936 H -3.77 0.956 D -6.39 0.911 D 0.919 0.910 1.090 0.992 D 0.942 0.981 D 0.320 0.915 D 4.070 0.546 23.7 0.996 0.738 0.986 0.842 D c 0.784 0.638 1.000 0.747 0.487 0.133 0 4.97 0.653 8.501 0.903 1.199 0.960 1.000 0.715 0.298 0.237 13.371 0.600 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . . . . . . . . . . . . . . . . . . het 523.45 48 4 187205402 . A G 523.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.491;DP=48;Dels=0.00;FS=4.158;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=-1.096;QD=10.91;ReadPosRankSum=0.843;VQSLOD=4.1639;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,19:48:99:553,0,823 4 187516880 187516880 A G exonic FAT1 synonymous SNV FAT1:NM_005245:exon26:c.T13101C:p.S4367S 0.49 0.71 0.53 0.57 0.37 0.21 0.4212 0.6739 0.5967 0.6275 0.3884 0.3714 0.4120 0.2553 0.45 0.65 0.36 0.56 . rs1298865 COSM4158952;COSM4158951 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4253 0.6741 0.5907 0.4556 0.6208 0.3875 0.3631 0.4138 0.2575 0.4742 0.6638 0.5299 0.4172 0.6185 0.3804 0.3714 0.4267 het 2774.59 204 4 187516880 . A G 2774.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.828;DP=204;Dels=0.00;FS=1.129;HRun=1;HaplotypeScore=3.9959;MQ=59.34;MQ0=0;MQRankSum=0.110;QD=13.60;ReadPosRankSum=0.990;VQSLOD=6.1413;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,100:204:99:2805,0,2732 4 187519206 187519206 C G exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon23:c.G12177C:p.K4059N 1. 1. 1. 1. 1. 0.99 0.9953 0.9992 0.9979 1 0.9959 0.9937 0.9967 0.9953 1. 1. 0.99 1. . rs1280097 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.201 P -1.635 0.004 N -2.25 0.873 D 1.71 0.006 N 0.058 0.041 -0.950 0.410 T 0.000 0.000 T . . . 0.199 0.113 4.672 0.151 0.004 0.107 0.160 N c -1.425 -1.185 0.951 0.279 0.707 0.730 0 -0.147 0.127 0.353 0.197 -0.328 0.075 0.998 0.411 0.797 0.335 8.460 0.319 EGF-like calcium-binding domain|EGF-like domain;EGF-like domain . . 0.9953 0.9993 0.9976 0.9964 1 0.9957 0.9934 0.9949 0.9949 0.9958 0.9987 0.9976 1 1 0.9969 0.9933 0.9949 hom 3752.44 126 4 187519206 . C G 3752.44 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5439;MQ=59.28;MQ0=1;QD=29.78;VQSLOD=8.3807;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:126:99:3752,289,0 4 187525020 187525020 A C exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon19:c.T10660G:p.S3554A 0.51 0.78 0.54 0.58 0.37 0.21 0.4276 0.7413 0.6005 0.6318 0.3858 0.3721 0.4105 0.2563 0.47 0.71 0.36 0.58 . rs2637777 COSM4984957;COSM4984958 1(haematopoietic_and_lymphoid_tissue);14(soft_tissue);2(pancreas) . . . . . . . . . . . 0.43 0.095 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 N 1 0.090 P 0.425 0.126 N 1.2 0.374 T -0.74 0.208 N 0.036 0.016 -1.002 0.294 T 0.000 0.000 T . . . -0.348 0.065 0.515 0.454 0.035 0.041 0.095 N c -1.263 -1.235 0.849 0.250 0.672 0.522 0 2.19 0.268 0.198 0.169 -0.333 0.074 0.057 0.215 0.761 0.325 5.734 0.172 Cadherin|Cadherin-like . . 0.4306 0.7413 0.5936 0.4545 0.6254 0.3846 0.3644 0.4149 0.2579 0.4939 0.7324 0.5371 0.4172 0.6255 0.3789 0.3717 0.4233 het 1029.96 76 4 187525020 . A C 1029.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.064;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.45;MQ0=0;MQRankSum=0.827;QD=13.55;ReadPosRankSum=0.463;VQSLOD=6.9226;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,40:76:99:1060,0,958 4 187534363 187534363 G A exonic FAT1 synonymous SNV FAT1:NM_005245:exon13:c.C9363T:p.N3121N 0.61 0.74 0.66 0.67 0.58 0.38 0.5913 0.7093 0.6889 0.6866 0.5977 0.5797 0.5668 0.4486 0.62 0.71 0.58 0.55 . rs2249916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5935 0.7056 0.6814 0.6208 0.6785 0.5911 0.5753 0.5995 0.4520 0.6188 0.6946 0.6430 0.5861 0.6702 0.5823 0.5777 0.6091 het 1940.16 147 4 187534363 . G A 1940.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.259;DP=147;Dels=0.00;FS=9.906;HRun=0;HaplotypeScore=2.7236;MQ=59.30;MQ0=0;MQRankSum=-1.400;QD=13.20;ReadPosRankSum=0.805;VQSLOD=4.1941;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,70:147:99:1970,0,1832 4 187534375 187534375 A G exonic FAT1 synonymous SNV FAT1:NM_005245:exon13:c.T9351C:p.D3117D 0.42 0.54 0.47 0.28 0.47 0.3 0.4408 0.5422 0.5184 0.2862 0.4536 0.4537 0.4196 0.3504 0.47 0.53 0.45 0.46 . rs2249917 COSM4003024;COSM4003025 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4406 0.5383 0.5062 0.4728 0.2771 0.4481 0.4522 0.4565 0.3513 0.4572 0.5304 0.4844 0.4669 0.25 0.4432 0.4395 0.4443 het 1933.99 170 4 187534375 . A G 1933.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.941;DP=170;Dels=0.00;FS=7.542;HRun=0;HaplotypeScore=1.6988;MQ=59.40;MQ0=0;MQRankSum=-0.194;QD=11.38;ReadPosRankSum=0.329;VQSLOD=5.0594;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,79:170:99:1964,0,2403 4 187538330 187538330 G A exonic FAT1 synonymous SNV FAT1:NM_005245:exon11:c.C8904T:p.A2968A 0.42 0.54 0.47 0.28 0.47 0.3 0.4398 0.5402 0.5186 0.2853 0.4530 0.4514 0.4189 0.3539 0.48 0.54 0.45 0.46 . rs1280099 COSM5425427;COSM5425426 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4398 0.5372 0.5070 0.4740 0.2766 0.4490 0.4500 0.4547 0.3505 0.4575 0.5317 0.4820 0.4636 0.25 0.4446 0.4388 0.45 het 782.75 64 4 187538330 . G A 782.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.551;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8893;MQ=59.64;MQ0=0;MQRankSum=-1.282;QD=12.23;ReadPosRankSum=-0.275;VQSLOD=5.8279;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,32:64:99:813,0,777 4 187538942 187538942 T G exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon10:c.A8798C:p.Q2933P 0.59 0.77 0.6 0.63 0.55 0.36 0.5554 0.7118 0.6204 0.6437 0.5358 0.5440 0.5359 0.4249 0.62 0.76 0.56 0.56 . rs1280098 COSM4005727;COSM4005726 1(urinary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.998 0.222 P -2.575 0.000 N 0.79 0.491 T 6.89 0.000 N 0.061 0.045 -0.940 0.426 T 0.000 0.000 T . . . -1.112 0.028 0.009 0.141 0.003 0.155 0.187 N c -1.170 -0.931 1.000 0.747 0.732 0.924 0 4.04 0.461 6.354 0.728 0.136 0.221 1.000 0.715 0.044 0.160 10.101 0.415 Cadherin|Cadherin-like . . 0.5549 0.7098 0.6170 0.5790 0.6354 0.5297 0.5402 0.5670 0.4270 0.5898 0.7045 0.5871 0.5298 0.6355 0.5183 0.5375 0.5682 het 2497.77 238 4 187538942 . T G 2497.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.420;DP=238;DS;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=6.7348;MQ=59.17;MQ0=0;MQRankSum=-1.649;QD=10.49;ReadPosRankSum=-1.240;VQSLOD=2.9783;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:139,99:238:99:2528,0,3822 4 187541131 187541131 G A exonic FAT1 synonymous SNV FAT1:NM_005245:exon10:c.C6609T:p.H2203H 0.014 0.0008 0.016 . 0.036 0.024 0.0211 0.0055 0.0187 0 0.0197 0.0271 0.0200 0.0198 0.021 0.006 0.029 . . rs35389971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0210 0.0054 0.0183 0.0086 0.0001 0.0175 0.0291 0.0281 0.0190 0.0177 0.0057 0.0167 0.0132 0 0.0163 0.0271 0.0173 het 3042.20 199 4 187541131 . G A 3042.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.013;DP=199;DS;Dels=0.00;FS=6.383;HRun=0;HaplotypeScore=3.8604;MQ=59.09;MQ0=0;MQRankSum=0.590;QD=15.29;ReadPosRankSum=0.775;VQSLOD=4.6448;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,109:199:99:3072,0,2555 4 187627792 187627792 T C exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.A3190G:p.R1064G 0.75 0.91 0.72 0.5 0.78 0.77 0.7609 0.8872 0.6490 0.4978 0.7464 0.7875 0.7728 0.7992 0.83 0.89 0.8 0.74 . rs11939575 COSM4003035;COSM4003034 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.996 0.232 P -3.06 0.000 N 0.54 0.549 T 6.26 0.000 N 0.104 0.109 -0.947 0.415 T 0.000 0.000 T . . . 0.930 0.183 10.26 0.362 0.023 0.197 0.206 N c -0.994 -0.682 1.000 0.747 0.672 0.522 0 4.6 0.564 6.177 0.717 0.069 0.176 1.000 0.715 0.007 0.100 12.991 0.578 Cadherin|Cadherin-like . . 0.7551 0.8964 0.6598 0.8075 0.4987 0.7460 0.7880 0.7663 0.8010 0.7963 0.8886 0.6790 0.7517 0.5136 0.7496 0.7913 0.7959 hom 7395.18 247 4 187627792 . T C 7395.18 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9049;MQ=59.44;MQ0=0;QD=29.94;VQSLOD=8.6125;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:7394,581,0 4 187628398 187628398 C G exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.G2584C:p.V862L 0.69 0.7 0.7 0.5 0.78 0.77 0.7460 0.7131 0.6415 0.4980 0.7468 0.7865 0.7650 0.8030 0.78 0.73 0.8 0.67 . rs1877731 COSM4003036;COSM4003037 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 1 0.090 P -0.735 0.018 N 0.95 0.433 T 1.74 0.006 N 0.028 0.009 -0.935 0.434 T 0.000 0.000 T . . . -1.358 0.020 0.004 0.123 0.002 0.140 0.180 N c -1.205 -1.062 1.000 0.454 0.672 0.522 0 3.06 0.342 1.422 0.342 0.101 0.200 1.000 0.715 0.035 0.152 11.374 0.488 Cadherin|Cadherin-like . . 0.7426 0.7190 0.6514 0.8067 0.4990 0.7461 0.7868 0.7567 0.8050 0.7483 0.7208 0.6663 0.7533 0.5149 0.7503 0.7906 0.7908 hom 4663.27 138 4 187628398 . C G 4663.27 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.83;MQ0=0;QD=33.79;VQSLOD=9.6614;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4663,367,0 4 187629140 187629140 G C exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.C1842G:p.F614L 0.69 0.71 0.7 0.5 0.78 0.77 0.7476 0.7276 0.6422 0.4986 0.7474 0.7870 0.7667 0.8025 0.78 0.75 0.8 0.66 . rs367863 COSM4003039;COSM4003038 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.194 P -1.85 0.003 N 1.35 0.346 T 0.22 0.047 N 0.021 0.005 -0.980 0.351 T 0.000 0.000 T . . . -0.701 0.045 0.071 0.213 0.008 0.483 0.279 N c -0.974 -0.734 1.000 0.458 0.638 0.428 0 3.53 0.394 1.182 0.314 0.014 0.141 1.000 0.715 0.206 0.219 4.962 0.133 Cadherin|Cadherin-like . . 0.7438 0.7326 0.6520 0.8072 0.4986 0.7463 0.7873 0.7569 0.8046 0.7519 0.7350 0.6659 0.7517 0.5111 0.7499 0.7907 0.7878 hom 3095.92 93 4 187629140 . G C 3095.92 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.75;MQ0=0;QD=33.29;VQSLOD=8.9697;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:93:99:3129,241,0 4 187629497 187629497 G A exonic FAT1 synonymous SNV FAT1:NM_005245:exon2:c.C1485T:p.N495N 0.42 0.29 0.57 0.22 0.65 0.47 0.5644 0.3407 0.5302 0.2294 0.6309 0.6531 0.5802 0.5097 0.56 0.37 0.65 0.3 . rs458021 COSM4003040;COSM4003041 5(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5653 0.3450 0.5399 0.6267 0.2277 0.6265 0.6515 0.5834 0.5119 0.5399 0.3539 0.5465 0.5927 0.2295 0.6330 0.6530 0.6196 het 4460.83 249 4 187629497 . G A 4460.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.651;DP=249;DS;Dels=0.00;FS=1.564;HRun=0;HaplotypeScore=2.6871;MQ=59.29;MQ0=0;MQRankSum=1.446;QD=17.91;ReadPosRankSum=-0.763;VQSLOD=5.7423;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:115,134:249:99:3795,0,2983 4 187629538 187629538 C T exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.G1444A:p.V482I 0.34 0.16 0.48 0.14 0.58 0.44 0.4865 0.2166 0.4485 0.1443 0.5027 0.5778 0.4989 0.4755 0.46 0.22 0.58 0.22 . rs3733413 COSM5425520;COSM5425519 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.144 0.252 T 0.059 0.216 B 0.09 0.283 B 0.000 0.629 N 0.000 0.588 P 1.075 0.273 L 0.44 0.606 T -0.6 0.185 N 0.028 0.147 -0.917 0.460 T 0.000 0.000 T . . . 0.580 0.149 8.014 0.976 0.341 0.926 0.558 D c -0.489 -0.431 1.000 0.480 0.672 0.522 0 2.77 0.315 3.416 0.522 0.065 0.171 0.996 0.391 0.069 0.175 11.119 0.473 Cadherin-like;Cadherin|Cadherin-like . . 0.4877 0.2200 0.4517 0.5860 0.1458 0.4937 0.5801 0.5108 0.4772 0.4354 0.2282 0.4594 0.5596 0.1415 0.4957 0.5652 0.5020 het 4086.64 247 4 187629538 . C T 4086.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.298;DP=247;DS;Dels=0.00;FS=1.615;HRun=0;HaplotypeScore=5.8667;MQ=59.43;MQ0=0;MQRankSum=-0.237;QD=16.55;ReadPosRankSum=-0.264;VQSLOD=4.7769;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,125:247:99:3418,0,3574 4 187629770 187629770 A C exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.T1212G:p.S404R 0.4 0.21 0.57 0.22 0.64 0.47 0.5576 0.2687 0.5264 0.2297 0.6316 0.6535 0.5757 0.5038 0.54 0.3 0.65 0.28 . rs3733414 COSM4003045;COSM4003044 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.531 0.078 T 0.134 0.257 B 0.032 0.208 B 0.001 0.394 N 1 0.090 P 1.32 0.331 L -1.75 0.835 D -0.64 0.326 N 0.142 0.458 -0.899 0.481 T 0.000 0.000 T . . . 0.506 0.143 7.479 0.949 0.252 0.781 0.382 D c -0.550 -0.435 0.993 0.331 0.638 0.428 0 1.45 0.216 0.450 0.213 0.128 0.215 0.921 0.317 0.626 0.294 9.222 0.364 Cadherin|Cadherin-like . . 0.5600 0.2736 0.5371 0.6266 0.2279 0.6272 0.6518 0.5808 0.5065 0.5191 0.2812 0.5453 0.6 0.2302 0.6335 0.6523 0.6186 het 2603.30 211 4 187629770 . A C 2603.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.289;DP=211;Dels=0.00;FS=1.097;HRun=1;HaplotypeScore=5.3865;MQ=58.91;MQ0=0;MQRankSum=-0.444;QD=12.34;ReadPosRankSum=0.288;VQSLOD=5.3989;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,101:211:99:2633,0,2787 4 187630590 187630590 G A exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.C392T:p.A131V 0.26 0.4 0.12 0.28 0.13 0.29 0.1798 0.3642 0.1113 0.2676 0.1152 0.1326 0.1849 0.2891 0.2 0.34 0.14 0.36 . rs3733415 COSM4416273;COSM4416272 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.002 0.721 D 0.904 0.479 P 0.273 0.383 B 0.001 0.398 N 0.003 0.439 P 2.775 0.813 M 0.21 0.600 T -2.5 0.681 D 0.147 0.387 -1.016 0.249 T 0.000 0.000 T . . . 3.251 0.450 22.8 0.999 0.944 0.955 0.648 D c 0.427 0.412 1.000 0.747 0.672 0.522 0 5.2 0.716 6.493 0.734 0.998 0.613 1.000 0.715 0.155 0.206 18.505 0.908 Cadherin|Cadherin-like ENSG00000083857.9|ENSG00000083857.9|ENSG00000083857.9 Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial 0.1757 0.3653 0.1113 0.1771 0.2706 0.1190 0.1349 0.1720 0.2882 0.2063 0.3610 0.1196 0.1523 0.2834 0.1160 0.1377 0.1670 het 2495.36 220 4 187630590 . G A 2495.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.288;DP=220;DS;Dels=0.00;FS=2.365;HRun=0;HaplotypeScore=4.8395;MQ=59.31;MQ0=0;MQRankSum=0.664;QD=11.34;ReadPosRankSum=-0.681;VQSLOD=5.5898;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:118,101:220:99:2525,0,2925 4 189012728 189012728 G C exonic TRIML2 synonymous SNV TRIML2:NM_173553:exon7:c.C1113G:p.G371G,TRIML2:NM_001303419:exon8:c.C1188G:p.G396G 0.71 0.82 0.57 0.91 0.46 0.72 0.5575 0.7675 0.5194 0.9187 0.4852 0.4674 0.5341 0.6566 0.56 0.76 0.46 0.73 0.47 rs2279550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5520 0.7718 0.5219 0.5437 0.9183 0.4797 0.4623 0.5099 0.6583 0.5856 0.7521 0.5264 0.5433 0.9370 0.4837 0.4826 0.5285 het 3129.33 241 4 189012728 . G C 3129.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.918;DP=241;Dels=0.00;FS=1.020;HRun=2;HaplotypeScore=3.9058;MQ=58.78;MQ0=0;MQRankSum=-0.926;QD=12.98;ReadPosRankSum=-1.234;VQSLOD=4.6894;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:123,117:241:99:3159,0,3109 4 189061024 189061024 G A exonic TRIML1 synonymous SNV TRIML1:NM_178556:exon1:c.G312A:p.A104A 0.068 0.21 0.029 0.001 0.018 0.025 0.0348 0.1878 0.0205 0.0002 0.0029 0.0244 0.0279 0.0230 0.079 0.18 0.026 0.076 0.033 rs73023226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0310 0.1871 0.0215 0.0466 0.0002 0.0034 0.0236 0.0354 0.0225 0.0679 0.1915 0.0310 0.0397 0 0.0040 0.0234 0.0295 het 1561.28 120 4 189061024 . G A 1561.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.920;DP=120;Dels=0.00;FS=11.462;HRun=0;HaplotypeScore=1.8583;MQ=59.81;MQ0=0;MQRankSum=-0.444;QD=13.01;ReadPosRankSum=-0.173;VQSLOD=3.7870;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,60:120:99:1591,0,1453 4 190862182 190862182 C T exonic FRG1 synonymous SNV FRG1:NM_004477:exon1:c.C18T:p.Y6Y 0.46 0.77 0.28 0.39 0.32 0.4 0.3495 0.7341 0.2001 0.3804 0.3006 0.3133 0.3430 0.3622 0.46 0.73 0.32 0.087 0.25 rs2411530 COSM3760550 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3385 0.7371 0.2156 0.3423 0.3767 0.3011 0.3148 0.3431 0.3643 0.4277 0.7254 0.2772 0.3377 0.3840 0.3011 0.3034 0.3443 hom 2187.22 72 4 190862182 . C T 2187.22 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.54;MQ0=0;QD=30.38;VQSLOD=8.7444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2220,178,0 5 163260 163260 A C exonic PLEKHG4B nonsynonymous SNV PLEKHG4B:NM_052909:exon13:c.A3073C:p.T1025P 0.97 1. 1. 0.85 1. 1. 0.9882 0.9987 0.9986 0.8530 0.9989 0.9993 0.9909 0.9969 1. 1. 1. 0.97 0.61 rs29674 . . . . . . . . . . . . . 0.312 0.139 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.695 0.019 N 1.57 0.293 T 0.81 0.018 N 0.039 0.019 -1.036 0.185 T 0.000 0.000 T . . . -1.091 0.029 0.010 0.126 0.002 0.001 0.009 N c -1.444 -1.471 0.997 0.354 0.537 0.215 0 -0.258 0.123 -0.594 0.058 -0.920 0.025 0.000 0.063 0.001 0.043 7.346 0.257 . . . 0.9870 0.9996 0.9997 1 0.8470 0.9998 0.9998 0.9923 0.9973 0.9911 0.9995 1 1 0.8350 0.9997 0.9999 0.9980 hom 925.82 29 5 163260 . A C 925.82 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.614;DP=29;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=-0.299;QD=31.92;ReadPosRankSum=1.614;VQSLOD=8.3649;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,28:29:78.23:959,78,0 5 174106 174106 G A exonic PLEKHG4B nonsynonymous SNV PLEKHG4B:NM_052909:exon18:c.G4295A:p.R1432Q 0.34 0.088 0.38 0.27 0.5 0.55 0.4992 0.1783 0.3987 0.2857 0.5369 0.5683 0.4937 0.5576 0.42 0.17 0.55 0.3 0.51 rs4956987 COSM3761114;COSM3761115 1(breast);1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.994 0.647 D 0.862 0.595 P . . . 0.981 0.251 P 1.935 0.520 L 2.79 0.112 T -1.63 0.391 N 0.05 0.031 -0.916 0.461 T 0.000 0.000 T . . . 3.325 0.458 22.9 0.998 0.893 0.738 0.358 D c -0.124 -0.213 0.990 0.318 0.672 0.522 0 0.527 0.162 3.529 0.530 -0.792 0.032 1.000 0.715 0.935 0.408 7.067 0.242 PH domain-like|Pleckstrin homology domain ENSG00000153404.9|ENSG00000073578.12 Lung|Testis 0.4673 0.1546 0.3560 0.469 0.2496 0.4992 0.5515 0.4742 0.5352 0.4109 0.1638 0.3831 0.4338 0.2748 0.4971 0.5439 0.5082 hom 927.03 27 5 174106 . G A 927.03 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=34.33;VQSLOD=9.7618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:75.24:960,75,0 5 181660 181660 T G exonic PLEKHG4B synonymous SNV PLEKHG4B:NM_052909:exon19:c.T4434G:p.G1478G 0.44 0.29 0.48 0.26 0.63 0.6 0.5746 0.3484 0.4760 0.2420 0.6674 0.6570 0.5563 0.5914 0.56 0.36 0.66 0.46 0.63 rs7717970 COSM3761182 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5709 0.3440 0.4815 0.5356 0.2361 0.6654 0.6598 0.5659 0.5902 0.5567 0.3571 0.4880 0.5530 0.2571 0.6700 0.6775 0.6360 hom 5662.73 178 5 181660 . T G 5662.73 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.5184;MQ=59.11;MQ0=0;QD=31.81;VQSLOD=8.7175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5662,448,0 5 181730 181730 C G exonic PLEKHG4B nonsynonymous SNV PLEKHG4B:NM_052909:exon19:c.C4504G:p.R1502G 0.33 0.082 0.37 0.26 0.5 0.54 0.4659 0.1533 0.3535 0.2409 0.4968 0.5440 0.4536 0.5324 0.42 0.16 0.55 0.3 0.51 rs12519352 COSM3761183 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.013 0.538 D 0.997 0.689 D 0.859 0.594 P . . . 1.000 0.201 P 0 0.065 N 1.17 0.379 T -1.42 0.350 N 0.163 0.196 -0.965 0.383 T 0.000 0.000 T . . . 1.995 0.301 16.18 0.935 0.227 0.836 0.424 D c -0.202 -0.319 0.997 0.350 0.707 0.730 0 3.21 0.358 1.313 0.330 0.422 0.276 0.994 0.380 0.001 0.043 7.717 0.277 . ENSG00000153404.9|ENSG00000248925.1|ENSG00000073578.12 Lung|Testis|Testis 0.4620 0.1490 0.3563 0.4584 0.2358 0.4933 0.5464 0.4677 0.5315 0.4048 0.1601 0.3816 0.4470 0.2571 0.4908 0.5375 0.4980 hom 6977.06 227 5 181730 . C G 6977.06 Mask AC=2;AF=1.00;AN=2;DP=227;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.8135;MQ=59.47;MQ0=0;QD=30.74;VQSLOD=8.5400;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:6976,572,0 5 181762 181762 A G exonic PLEKHG4B synonymous SNV PLEKHG4B:NM_052909:exon19:c.A4536G:p.R1512R 0.44 0.27 0.48 0.26 0.63 0.61 0.5757 0.3269 0.4759 0.2416 0.6681 0.6584 0.5597 0.6065 0.55 0.34 0.66 0.43 0.63 rs11133847 COSM3761184 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5720 0.3225 0.4811 0.5358 0.2361 0.6657 0.6614 0.5676 0.6048 0.5521 0.3377 0.4857 0.5530 0.2568 0.6696 0.6792 0.6391 hom 5702.54 175 5 181762 . A G 5702.54 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9198;MQ=59.23;MQ0=0;QD=32.59;VQSLOD=9.9482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5702,445,0 5 223646 223646 A T exonic SDHA nonsynonymous SNV SDHA:NM_001294332:exon2:c.A113T:p.D38V,SDHA:NM_001330758:exon2:c.A113T:p.D38V,SDHA:NM_004168:exon2:c.A113T:p.D38V 0.019 . 0.016 . 0.032 0.051 0.0353 0.0062 0.0115 0 0.0271 0.0442 0.0198 0.0568 0.033 0.0079 0.046 . 0.049 rs34635677 COSM5020478 1(soft_tissue) Benign|Benign|Benign|Likely benign|Likely benign|Likely benign Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified|Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency RCV000210535.2|RCV000210535.2|RCV000245657.1|RCV000295347.1|RCV000352522.1|RCV000387287.1 MedGen:OMIM:Orphanet|MedGen:OMIM|MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet C1855008:252011:ORPHA3208|C3279992:614165|CN169374|C0031511:171300|C0023264:256000:ORPHA506:29570005|C1855008:252011:ORPHA3208 . . . . . . 0.614 0.059 T 0.001 0.067 B 0.002 0.063 B 0.023 0.266 U 1 0.090 N 0.46 0.130 N -0.6 0.718 T 0.2 0.084 N 0.361 0.422 -1.079 0.076 T 0.039 0.170 T . . . 0.820 0.172 9.589 0.864 0.160 0.598 0.308 D c -0.596 -0.511 1.000 0.480 0.732 0.924 0 1.56 0.223 2.737 0.468 0.233 0.259 0.989 0.365 0.832 0.347 8.397 0.315 . . . 0.0353 0.0064 0.0132 0.0514 5.798e-05 0.0253 0.0458 0.0308 0.0585 0.0291 0.0080 0.0227 0.0364 0 0.0260 0.0444 0.0448 het 1135.83 134 5 223646 . A T 1135.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.545;DP=134;Dels=0.00;FS=1.436;HRun=1;HaplotypeScore=1.6828;MQ=56.54;MQ0=0;MQRankSum=1.448;QD=8.48;ReadPosRankSum=-0.623;VQSLOD=2.9270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,51:134:99:1166,0,2005 5 231111 231111 T C exonic SDHA synonymous SNV SDHA:NM_001294332:exon6:c.T747C:p.P249P,SDHA:NM_001330758:exon7:c.T891C:p.P297P,SDHA:NM_004168:exon7:c.T891C:p.P297P 0.65 0.79 0.69 0.34 0.75 0.68 0.7078 0.7843 0.6455 0.3281 0.7652 0.7574 0.6872 0.6801 0.77 0.79 0.76 0.62 0.7 rs1126417 COSM4159838 1(thyroid) other|Benign|Likely benign|Likely benign|Likely benign not_specified|Hereditary_cancer-predisposing_syndrome|Pheochromocytoma|Mitochondrial_complex_II_deficiency|Leigh_syndrome RCV000118321.3|RCV000162482.1|RCV000308030.1|RCV000347829.1|RCV000400279.1 MedGen|MedGen:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0027672:699346009|C0031511:171300|C1855008:252011:ORPHA3208|C0023264:256000:ORPHA506:29570005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7014 0.7879 0.6539 0.6961 0.3200 0.7581 0.7575 0.7124 0.6797 0.7402 0.7825 0.6516 0.7067 0.3323 0.7666 0.7589 0.7423 hom 3352.04 102 5 231111 . T C 3352.04 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8490;MQ=57.71;MQ0=0;QD=32.86;VQSLOD=7.5629;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3352,259,0 5 311478 311478 T C exonic PDCD6 synonymous SNV PDCD6:NM_001267557:exon3:c.T234C:p.I78I,PDCD6:NM_001267556:exon5:c.T432C:p.I144I,PDCD6:NM_013232:exon5:c.T438C:p.I146I,PDCD6:NM_001267558:exon6:c.T228C:p.I76I 0.61 0.78 0.56 0.26 0.7 0.65 0.6527 0.7672 0.5163 0.2552 0.6990 0.7049 0.6150 0.6578 0.73 0.78 0.71 0.61 0.66 rs2244029 COSM1486710;COSM449516 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6420 0.7718 0.5288 0.5910 0.2490 0.6965 0.7090 0.6398 0.6558 0.7010 0.7697 0.5489 0.6026 0.2633 0.7022 0.7192 0.6908 hom 2595.87 89 5 311478 . T C 2595.87 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3326;MQ=59.53;MQ0=0;QD=29.17;VQSLOD=8.2981;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2629,232,0 5 422955 422955 C G exonic AHRR nonsynonymous SNV AHRR:NM_001242412:exon6:c.C565G:p.P189A,AHRR:NM_020731:exon6:c.C565G:p.P189A . . . . . . 0.3802 0.1422 0.2537 0.3970 0.4505 0.4078 0.4319 0.4598 0.3 0.15 0.38 0.24 0.38 rs2292596 COSM1600015 1(haematopoietic_and_lymphoid_tissue);2(thyroid);2(central_nervous_system);1(biliary_tract) . . . . . . . . . . . 0.072 0.386 T 0.932 0.500 P 0.647 0.505 P 0.000 0.463 D 0.998 0.222 P 2.175 0.612 M 2.24 0.221 T -2.21 0.496 N 0.092 0.327 -0.931 0.441 T 0.000 0.000 T . . . 0.196 0.113 4.639 0.577 0.057 0.676 0.332 D c -0.421 -0.478 0.984 0.307 0.632 0.406 0 3.08 0.344 0.914 0.280 0.077 0.185 0.970 0.340 0.080 0.181 4.648 0.119 . ENSG00000180104.11|ENSG00000225138.3|ENSG00000225138.3|ENSG00000180104.11 Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.3754 0.1407 0.2535 0.4325 0.3943 0.4551 0.3990 0.3960 0.4493 0.3333 0.1501 0.2955 0.4371 0.3945 0.4542 0.4007 0.3998 het 558.82 60 5 422955 . C G 558.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.412;QD=9.31;ReadPosRankSum=0.563;VQSLOD=10.9401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,24:60:99:589,0,1019 5 434722 434722 G C exonic AHRR nonsynonymous SNV AHRR:NM_001242412:exon11:c.G1879C:p.D627H,AHRR:NM_020731:exon12:c.G1933C:p.D645H 0.15 0.011 0.24 0.004 0.4 0.19 0.3371 0.0927 0.3670 0.0296 0.4987 0.4290 0.2831 0.2517 0.27 0.071 0.36 0.13 0.14 rs34453673 COSM1437716 1(liver);1(prostate);1(large_intestine) . . . . . . . . . . . 0.712 0.063 T 0.0 0.026 B 0.0 0.013 B 0.748 0.097 N 1 0.090 P -1.385 0.006 N 2.33 0.217 T 2.34 0.004 N 0.03 0.044 -0.902 0.478 T 0.000 0.000 T . . . 0.183 0.111 4.501 0.069 0.000 0.006 0.025 N c -1.348 -1.288 1.000 0.747 0.672 0.522 0 3.32 0.370 0.667 0.246 -0.084 0.118 0.001 0.137 0.000 0.016 5.054 0.138 . ENSG00000180104.11|ENSG00000221990.2|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000180104.11|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000188242.4|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000221990.2|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000225138.3|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000250645.1|ENSG00000180104.11|ENSG00000221990.2|ENSG00000180104.11|ENSG00000225138.3|ENSG00000221990.2|ENSG00000180104.11|ENSG00000225138.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2938 0.0616 0.2776 0.2470 0.0042 0.3928 0.3853 0.2680 0.2358 0.2754 0.0694 0.2768 0.2483 0.0025 0.3954 0.3923 0.3528 het 57.29 15 5 434722 . G C 57.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.024;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=1.110;QD=3.82;ReadPosRankSum=0.979;VQSLOD=4.5361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,4:15:87.29:87,0,306 5 453567 453567 G A exonic EXOC3 synonymous SNV EXOC3:NM_007277:exon4:c.G447A:p.E149E 0.58 0.8 0.49 0.53 0.45 0.51 0.5554 0.7632 0.4959 0.5556 0.5490 0.5334 0.5835 0.5538 0.58 0.76 0.49 0.6 . rs2672722 COSM3761243 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5131 0.7573 0.4301 0.5859 0.5181 0.5224 0.4910 0.5377 0.5257 0.5689 0.7546 0.4642 0.5828 0.5275 0.5195 0.4868 0.5031 het 330.78 39 5 453567 . G A 330.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.650;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8936;MQ=60.00;MQ0=0;MQRankSum=0.747;QD=8.48;ReadPosRankSum=-1.186;VQSLOD=5.7279;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,14:39:99:361,0,799 5 475104 475104 A G exonic SLC9A3 nonsynonymous SNV SLC9A3:NM_001284351:exon16:c.T2368C:p.C790R,SLC9A3:NM_004174:exon16:c.T2395C:p.C799R . . . . . . 0.8253 0.8684 0.7179 0.5365 0.9146 0.8798 0.8261 0.7703 0.87 0.87 0.87 0.77 0.7 rs2247114 COSM4006021 1(urinary_tract);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.474 0.122 N 0.161 0.350 P -2.28 0.001 N -0.3 0.679 T 3.25 0.001 N 0.014 0.005 -0.960 0.393 T 0.000 0.000 T . . . 0.220 0.115 4.887 0.561 0.054 0.154 0.187 N c -1.056 -0.773 1.000 0.747 0.726 0.872 0 3.84 0.433 1.546 0.356 0.076 0.183 0.995 0.385 0.840 0.350 7.296 0.254 . ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000066230.6|ENSG00000225138.3|ENSG00000180104.11|ENSG00000225138.3|ENSG00000066230.6|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000221990.2|ENSG00000180104.11|ENSG00000180104.11|ENSG00000225138.3|ENSG00000066230.6|ENSG00000180104.11|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000180104.11|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000180104.11|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3|ENSG00000225138.3|ENSG00000066230.6|ENSG00000066230.6|ENSG00000221990.2|ENSG00000066230.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000221990.2|ENSG00000225138.3|ENSG00000066230.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.8144 0.8656 0.7087 0.8339 0.5213 0.9177 0.8765 0.8196 0.7692 0.8586 0.8671 0.7380 0.8344 0.5305 0.9151 0.8827 0.8650 hom 632.06 23 5 475104 . A G 632.06 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=27.48;VQSLOD=8.2726;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.16:665,57,0 5 476353 476353 C T exonic SLC9A3 synonymous SNV SLC9A3:NM_001284351:exon13:c.G2004A:p.A668A,SLC9A3:NM_004174:exon13:c.G2031A:p.A677A 0.21 0.14 0.31 0.035 0.41 0.22 0.3205 0.1775 0.3441 0.0455 0.3964 0.3840 0.3053 0.2523 0.32 0.18 0.39 0.22 0.27 rs2230437 COSM1132153 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3236 0.1736 0.3454 0.2677 0.0418 0.3964 0.3908 0.3088 0.2559 0.3148 0.1764 0.3365 0.2616 0.0543 0.3978 0.4001 0.3755 het 1346.63 95 5 476353 . C T 1346.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.063;DP=95;Dels=0.00;FS=11.433;HRun=0;HaplotypeScore=3.8726;MQ=59.80;MQ0=0;MQRankSum=-0.258;QD=14.18;ReadPosRankSum=0.765;VQSLOD=4.0976;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,45:95:99:1377,0,1319 5 482186 482186 C G exonic SLC9A3 synonymous SNV SLC9A3:NM_001284351:exon8:c.G1416C:p.G472G,SLC9A3:NM_004174:exon8:c.G1443C:p.G481G 0.81 0.98 0.8 0.58 0.88 0.76 0.8631 0.9637 0.8020 0.5850 0.9238 0.9033 0.8780 0.8049 0.92 0.96 0.9 0.47 0.62 rs9885312 COSM4159883 4(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8390 0.9492 0.7776 0.8652 0.5531 0.9167 0.8868 0.8452 0.7892 0.8986 0.9629 0.8128 0.8921 0.5713 0.9201 0.8977 0.8861 hom 831.36 27 5 482186 . C G 831.36 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9336;MQ=56.10;MQ0=0;QD=30.79;VQSLOD=3.5814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:27:66.21:864,66,0 5 639231 639231 C A exonic CEP72 nonsynonymous SNV CEP72:NM_018140:exon8:c.C1234A:p.P412T 0.09 0.0045 0.11 0.0099 0.19 0.17 0.1489 0.0328 0.1601 0.0052 0.1371 0.1781 0.1670 0.1736 0.14 0.038 0.2 0.065 0.15 rs12522955 COSM4159929 1(thyroid) . . . . . . . . . . . 0.068 0.357 T 0.987 0.600 D 0.755 0.544 P 0.013 0.291 N 1 0.225 P 1.525 0.387 L 1.44 0.327 T -2.94 0.614 D 0.084 0.078 -1.041 0.169 T 0.000 0.000 T . . . 2.170 0.322 17.31 0.883 0.173 0.153 0.187 N c -0.314 -0.493 0.961 0.285 0.718 0.821 0 3.58 0.400 0.923 0.282 0.016 0.142 0.002 0.151 0.002 0.062 8.978 0.349 . ENSG00000268885.1|ENSG00000112877.6|ENSG00000268885.1|ENSG00000268885.1|ENSG00000271781.1|ENSG00000066230.6|ENSG00000271781.1|ENSG00000225138.3|ENSG00000066230.6|ENSG00000268885.1|ENSG00000268885.1|ENSG00000112877.6|ENSG00000180104.11|ENSG00000268885.1|ENSG00000268885.1|ENSG00000112877.6|ENSG00000268885.1|ENSG00000112877.6|ENSG00000271781.1|ENSG00000268885.1|ENSG00000112877.6|ENSG00000225138.3|ENSG00000066230.6|ENSG00000268885.1|ENSG00000225138.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1507 0.0308 0.1624 0.1428 0.0045 0.1334 0.1841 0.1470 0.1743 0.1193 0.0319 0.1432 0.1523 0.0025 0.1272 0.1762 0.1660 het 1476.49 113 5 639231 . C A 1476.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.286;DP=113;Dels=0.00;FS=2.469;HRun=1;HaplotypeScore=8.6969;MQ=58.65;MQ0=0;MQRankSum=2.495;QD=13.07;ReadPosRankSum=-0.864;VQSLOD=3.5201;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,56:113:99:1506,0,1650 5 665280 665280 T C exonic TPPP synonymous SNV TPPP:NM_007030:exon4:c.A597G:p.S199S 0.72 0.93 0.7 0.69 0.61 0.61 0.6335 0.8893 0.7337 0.6664 0.5005 0.5895 0.6397 0.6145 0.7 0.89 0.61 0.66 0.63 rs1697963 COSM1438473 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6326 0.8920 0.7272 0.6892 0.6640 0.4966 0.5929 0.6197 0.6087 0.6623 0.8848 0.6993 0.7053 0.6665 0.4943 0.5713 0.6153 het 1151.37 143 5 665280 . T C 1151.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.968;DP=143;Dels=0.00;FS=9.501;HRun=2;HaplotypeScore=3.7347;MQ=60.00;MQ0=0;MQRankSum=1.077;QD=8.05;ReadPosRankSum=0.125;VQSLOD=3.7528;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,50:143:99:1181,0,2684 5 665295 665295 A G exonic TPPP synonymous SNV TPPP:NM_007030:exon4:c.T582C:p.D194D 0.096 0.0061 0.16 0.021 0.19 0.15 0.1529 0.0316 0.2372 0.0140 0.1362 0.1744 0.1704 0.1622 0.14 0.038 0.2 0.054 0.15 rs61731455 COSM1438474 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1589 0.0305 0.2377 0.1499 0.0119 0.1317 0.1807 0.1561 0.1630 0.1202 0.0316 0.2010 0.1556 0.0062 0.1266 0.1744 0.1663 het 1283.89 138 5 665295 . A G 1283.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.240;DP=138;Dels=0.00;FS=9.749;HRun=1;HaplotypeScore=0.9987;MQ=60.00;MQ0=0;MQRankSum=0.318;QD=9.30;ReadPosRankSum=-0.049;VQSLOD=3.8823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,51:138:99:1314,0,2324 5 678062 678062 A G exonic TPPP synonymous SNV TPPP:NM_007030:exon2:c.T114C:p.A38A 0.75 0.97 0.7 0.66 0.65 0.71 0.6676 0.9245 0.6815 0.6605 0.5643 0.6278 0.6551 0.6979 0.74 0.92 0.64 0.69 0.61 rs450628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6567 0.9290 0.6753 0.6809 0.6530 0.5439 0.6267 0.6378 0.6891 0.7005 0.9220 0.6945 0.7417 0.6586 0.5539 0.6133 0.6434 het 542.98 50 5 678062 . A G 542.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.975;DP=50;Dels=0.00;FS=3.457;HRun=1;HaplotypeScore=1.9459;MQ=58.40;MQ0=0;MQRankSum=-0.585;QD=10.86;ReadPosRankSum=-1.098;VQSLOD=4.5628;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,19:50:99:573,0,895 5 766939 766939 G A exonic ZDHHC11B synonymous SNV ZDHHC11B:NM_001351303:exon1:c.C96T:p.N32N . . . . . . 0.2514 0.2938 0.1408 0.1789 0.2131 0.2807 0.2171 0.2394 . . . 0.22 . rs4957103 COSM450069 1(breast);1(thyroid);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2437 0.2869 0.1555 0.2802 0.1556 0.2054 0.2848 0.2408 0.2351 0.2547 0.2726 0.1626 0.2467 0.1422 0.2060 0.2737 0.2447 het 1552.28 127 5 766939 . G A 1552.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.853;DP=127;Dels=0.00;FS=5.580;HRun=0;HaplotypeScore=8.8345;MQ=57.68;MQ0=0;MQRankSum=1.330;QD=12.22;ReadPosRankSum=1.769;VQSLOD=2.5476;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:64,63:127:99:1582,0,1563 5 767033 767033 A C exonic ZDHHC11B startloss ZDHHC11B:NM_001351303:exon1:c.T2G:p.D2_M103del 0.78 0.76 0.8 0.84 0.73 0.78 0.7525 0.7380 0.8644 0.8125 0.7876 0.7211 0.7904 0.7618 . . . 0.81 . rs1809932 . . . . . . . . . . . . . 0.002 0.721 D . . . . . . . . . 0.000 0.810 P . . . 1.46 0.322 T -1.85 0.454 N 0.346 0.543 -1.072 0.089 T 0.000 0.000 T . . . 2.803 0.398 21.4 0.944 0.242 0.746 0.362 D c -0.483 -0.616 0.452 0.205 0.581 0.326 0 1.56 0.223 1.803 0.383 0.099 0.198 0.854 0.303 0.003 0.074 4.527 0.113 . ENSG00000225138.3|ENSG00000225138.3|ENSG00000066230.6|ENSG00000225138.3 Colon_Transverse|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7537 0.7376 0.8449 0.7185 0.8179 0.7896 0.7120 0.7585 0.7611 0.7457 0.7457 0.8353 0.75 0.8165 0.7896 0.7223 0.7490 het 1337.84 80 5 767033 . A C 1337.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.672;DP=80;Dels=0.00;FS=1.241;HRun=2;HaplotypeScore=4.7849;MQ=58.38;MQ0=0;MQRankSum=-0.365;QD=16.72;ReadPosRankSum=-0.599;VQSLOD=4.0077;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:34,46:80:99:1368,0,887 5 1057615 1057615 A G exonic SLC12A7 synonymous SNV SLC12A7:NM_006598:exon22:c.T2997C:p.S999S 0.49 0.24 0.63 0.48 0.64 0.61 0.6137 0.2948 0.6437 0.5096 0.6357 0.6566 0.6537 0.6641 0.53 0.3 0.65 0.5 0.57 rs2241606 COSM3760857 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6159 0.2867 0.6293 0.5213 0.5071 0.6335 0.6644 0.6390 0.6642 0.5504 0.3119 0.6086 0.5265 0.5130 0.6473 0.6600 0.6721 het 3188.42 247 5 1057615 . A G 3188.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.304;DP=247;DS;Dels=0.00;FS=2.238;HRun=1;HaplotypeScore=5.4583;MQ=59.00;MQ0=0;MQRankSum=-0.523;QD=12.91;ReadPosRankSum=-2.839;VQSLOD=3.8830;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:116,131:247:99:3218,0,3258 5 1063998 1063998 G A exonic SLC12A7 synonymous SNV SLC12A7:NM_006598:exon20:c.C2700T:p.Y900Y 0.3 0.029 0.36 0.32 0.45 0.43 0.4180 0.0927 0.3700 0.3203 0.5083 0.4714 0.4607 0.4531 0.35 0.1 0.47 0.043 0.48 rs7722287 COSM448401 2(haematopoietic_and_lymphoid_tissue);4(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4237 0.0866 0.3721 0.3735 0.3200 0.5123 0.4797 0.4205 0.4548 0.3719 0.1004 0.3623 0.3792 0.3441 0.5069 0.4958 0.4761 het 2150.17 208 5 1063998 . G A 2150.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.641;DP=208;Dels=0.00;FS=0.537;HRun=0;HaplotypeScore=4.7269;MQ=58.34;MQ0=0;MQRankSum=0.466;QD=10.34;ReadPosRankSum=0.575;VQSLOD=5.4948;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,97:208:99:2180,0,2592 5 1065514 1065514 A G exonic SLC12A7 nonsynonymous SNV SLC12A7:NM_006598:exon18:c.T2321C:p.M774T 0.0052 . 0.0014 . 0.021 0.0041 0.0135 0.0031 0.0052 0 0.0188 0.0200 0.0146 0.0048 0.016 0.0032 0.023 0.011 0.033 rs56350427 . . . . . . . . . . . . . 0.155 0.241 T 0.0 0.026 B 0.001 0.040 B 0.094 0.202 N 0.995 0.234 N -0.545 0.025 N -3.22 0.934 D -1.66 0.397 N 0.085 0.448 -0.637 0.633 T 0.259 0.630 T . . . 0.690 0.160 8.764 0.793 0.122 0.247 0.223 N c -0.837 -0.756 0.686 0.225 0.707 0.730 0 0.507 0.161 1.506 0.351 -0.265 0.087 0.035 0.205 0.448 0.262 7.179 0.248 SLC12A transporter\x2c C-terminal . . 0.0141 0.0033 0.0064 0.0057 0 0.0176 0.0228 0.0132 0.0050 0.0133 0.0026 0.0072 0.0066 0 0.0183 0.0205 0.0102 het 1344.02 96 5 1065514 . A G 1344.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.540;DP=96;Dels=0.00;FS=0.771;HRun=0;HaplotypeScore=3.8640;MQ=56.93;MQ0=0;MQRankSum=1.246;QD=14.00;ReadPosRankSum=-0.114;VQSLOD=3.5289;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,52:96:99:1374,0,1073 5 1081702 1081702 A G exonic SLC12A7 synonymous SNV SLC12A7:NM_006598:exon9:c.T1287C:p.P429P 0.42 0.48 0.32 0.36 0.48 0.42 0.4624 0.4940 0.3371 0.3625 0.5609 0.4868 0.5 0.4428 0.49 0.5 0.49 0.43 0.4 rs6865765 COSM3760859 5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4566 0.4917 0.3434 0.3603 0.3667 0.5559 0.4926 0.4518 0.4420 0.5041 0.5011 0.3413 0.3344 0.3803 0.5704 0.5144 0.5327 het 1737.99 105 5 1081702 . A G 1737.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.422;DP=105;Dels=0.00;FS=4.301;HRun=3;HaplotypeScore=2.8911;MQ=59.78;MQ0=0;MQRankSum=0.226;QD=16.55;ReadPosRankSum=-0.114;VQSLOD=5.7733;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,63:105:99:1768,0,1141 5 1081767 1081767 C T exonic SLC12A7 nonsynonymous SNV SLC12A7:NM_006598:exon9:c.G1222A:p.A408T 0.53 0.33 0.65 0.67 0.52 0.59 0.5291 0.3405 0.6550 0.6743 0.4407 0.5154 0.4911 0.5749 0.46 0.34 0.51 0.51 0.54 rs4526148 COSM4159348 1(thyroid) . . . . . . . . . . . 0.55 0.066 T 0.0 0.026 B 0.0 0.013 B 0.997 0.079 N 1 0.090 P 0.695 0.181 N -1.85 0.843 D -0.41 0.140 N 0.002 0.000 -0.943 0.422 T 0.000 0.000 T . . . -0.283 0.070 0.724 0.863 0.159 0.020 0.059 N c -1.563 -1.575 0.012 0.123 0.706 0.609 0 -0.282 0.122 0.719 0.254 -0.493 0.052 0.003 0.159 0.000 0.016 3.716 0.079 . ENSG00000113504.15 Whole_Blood 0.5353 0.3378 0.6477 0.6387 0.6669 0.4449 0.5069 0.5413 0.5711 0.4515 0.3424 0.6495 0.6623 0.6459 0.4298 0.4831 0.4603 het 1540.71 132 5 1081767 . C T 1540.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.602;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8633;MQ=59.22;MQ0=0;MQRankSum=0.342;QD=11.67;ReadPosRankSum=0.347;VQSLOD=6.8227;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,61:132:99:1571,0,1830 5 1208964 1208964 T C exonic SLC6A19 synonymous SNV SLC6A19:NM_001003841:exon2:c.T306C:p.G102G . . . . . . 0.3697 0.5460 0.5244 0.3500 0.3721 0.3188 0.3690 0.3632 0.39 0.55 0.31 0.42 0.24 rs60992377 COSM4159372 1(thyroid) Likely benign not_specified RCV000118390.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3691 0.5437 0.5133 0.3945 0.3432 0.3684 0.3053 0.3788 0.3586 0.3820 0.5353 0.5 0.4167 0.3195 0.3766 0.2958 0.3480 het 704.59 64 5 1208964 . T C 704.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.602;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1981;MQ=58.62;MQ0=0;MQRankSum=0.658;QD=11.01;ReadPosRankSum=0.725;VQSLOD=5.1797;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,31:64:99:735,0,981 5 1213668 1213668 G A exonic SLC6A19 nonsynonymous SNV SLC6A19:NM_001003841:exon5:c.G754A:p.V252I 0.19 0.32 0.14 0.18 0.13 0.14 0.1576 0.3066 0.1579 0.1583 0.1399 0.1396 0.1584 0.1434 0.2 0.3 0.14 0.2 0.098 rs7732589 COSM5654015 1(haematopoietic_and_lymphoid_tissue) Likely benign not_specified RCV000118391.2 MedGen CN169374 . . . . . . 0.35 0.123 T 0.001 0.067 B 0.002 0.063 B 0.007 0.319 N 0.997 0.229 P 0.525 0.136 N -0.82 0.741 T -0.41 0.140 N 0.058 0.041 -1.050 0.145 T 0.000 0.000 T . . . 1.106 0.200 11.25 0.960 0.278 0.733 0.356 D c -0.672 -0.515 0.999 0.377 0.403 0.052 0 3.03 0.339 1.916 0.394 0.042 0.156 0.979 0.349 0.937 0.410 8.319 0.311 . . . 0.1529 0.2981 0.1578 0.1185 0.1613 0.1301 0.1416 0.1514 0.1392 0.1786 0.2902 0.1499 0.1126 0.1658 0.1257 0.1341 0.1307 het 664.49 54 5 1213668 . G A 664.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.545;DP=54;Dels=0.00;FS=4.029;HRun=0;HaplotypeScore=0.9789;MQ=59.14;MQ0=0;MQRankSum=-0.840;QD=12.31;ReadPosRankSum=-0.978;VQSLOD=5.9744;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,26:54:99:694,0,673 5 1216775 1216775 A G exonic SLC6A19 synonymous SNV SLC6A19:NM_001003841:exon7:c.A990G:p.T330T 0.84 0.88 0.86 0.68 0.96 0.81 0.9028 0.8819 0.8486 0.6955 0.9791 0.9524 0.9205 0.8304 0.93 0.88 0.95 0.86 0.95 rs4975629 COSM149780 1(stomach);1(liver) Likely benign not_specified RCV000118392.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9012 0.8788 0.8467 0.9526 0.6918 0.9767 0.9518 0.9239 0.8308 0.9194 0.8838 0.8592 0.9437 0.6599 0.9780 0.9557 0.9458 hom 4904.97 149 5 1216775 . A G 4904.97 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.92;VQSLOD=10.0631;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4904,409,0 5 1225613 1225613 G A exonic SLC6A18 synonymous SNV SLC6A18:NM_182632:exon1:c.G21A:p.P7P 0.74 0.83 0.76 0.56 0.79 0.75 0.7657 0.8173 0.7710 0.5904 0.8350 0.7767 0.7618 0.7496 0.79 0.82 0.78 0.75 0.61 rs7704058 COSM149781 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7651 0.8244 0.7635 0.7139 0.5871 0.8358 0.7794 0.7659 0.7498 0.7904 0.8228 0.7632 0.7384 0.5525 0.8287 0.7909 0.7920 het 661.25 52 5 1225613 . G A 661.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.305;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=57.38;MQ0=0;MQRankSum=0.198;QD=12.72;ReadPosRankSum=0.857;VQSLOD=6.6038;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,25:52:99:691,0,589 5 1225626 1225626 T A exonic SLC6A18 nonsynonymous SNV SLC6A18:NM_182632:exon1:c.T34A:p.C12S 0.74 0.83 0.76 0.56 0.79 0.75 0.7651 0.8173 0.7725 0.5893 0.8329 0.7758 0.7628 0.7489 0.79 0.82 0.78 0.75 0.69 rs7728667 COSM5452262 1(large_intestine) . . . . . . . . . . . 0.818 0.030 T 0.0 0.026 B 0.0 0.013 B 0.839 0.090 N 1 0.090 P -1.005 0.012 N -0.72 0.730 T 1.58 0.007 N 0.024 0.009 -1.001 0.297 T 0.000 0.000 T . . . -2.466 0.004 0.001 0.530 0.048 0.007 0.030 N c -1.822 -1.878 0.989 0.317 0.487 0.133 0 -5.52 0.023 0.598 0.236 -1.015 0.021 0.000 0.063 0.000 0.016 5.773 0.174 . . . 0.7649 0.8242 0.7641 0.7137 0.5846 0.8355 0.7794 0.7662 0.7497 0.7899 0.8229 0.7608 0.7384 0.5483 0.8287 0.7904 0.7900 het 705.95 63 5 1225626 . T A 705.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.521;DP=63;Dels=0.00;FS=1.329;HRun=0;HaplotypeScore=2.9951;MQ=57.77;MQ0=0;MQRankSum=-1.577;QD=11.21;ReadPosRankSum=-0.050;VQSLOD=3.5479;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,28:63:99:736,0,980 5 1225687 1225687 C T exonic SLC6A18 nonsynonymous SNV SLC6A18:NM_182632:exon1:c.C95T:p.T32I 0.82 0.88 0.86 0.6 0.96 0.82 0.8992 0.8832 0.8480 0.6243 0.9788 0.9520 0.9157 0.8423 0.87 0.79 0.91 0.15 0.94 rs7705355 COSM149782 1(stomach);1(urinary_tract);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.360 0.137 N 1 0.090 P -3.83 0.000 N -0.45 0.699 T 3.73 0.001 N 0.037 0.021 -0.939 0.428 T 0.000 0.000 T . . . -0.709 0.044 0.069 0.453 0.035 0.075 0.134 N c -1.401 -1.145 1.000 0.416 0.487 0.133 0 4.12 0.473 6.089 0.708 0.056 0.163 0.947 0.327 0.008 0.104 9.694 0.391 . . . 0.8983 0.8880 0.8483 0.9539 0.6174 0.9765 0.9518 0.9190 0.8426 0.9159 0.8862 0.8546 0.9437 0.5791 0.9779 0.9557 0.9475 hom 4336.18 139 5 1225687 . C T 4336.18 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2047;MQ=57.40;MQ0=0;QD=31.20;VQSLOD=4.8138;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,138:139:99:4335,352,0 5 1225688 1225688 T C exonic SLC6A18 synonymous SNV SLC6A18:NM_182632:exon1:c.T96C:p.T32T 0.68 0.68 0.74 0.56 0.79 0.67 0.7428 0.6770 0.7663 0.5889 0.8317 0.7754 0.7588 0.6795 0.59 0.6 0.58 . 0.77 rs7728814 COSM149783 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7465 0.6800 0.7593 0.7130 0.5839 0.8355 0.7789 0.7596 0.6829 0.7492 0.6814 0.7584 0.7384 0.5472 0.8286 0.7899 0.7747 het 1631.37 141 5 1225688 . T C 1631.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DP=141;Dels=0.00;FS=3.347;HRun=1;HaplotypeScore=5.2047;MQ=57.43;MQ0=0;MQRankSum=-0.084;QD=11.57;ReadPosRankSum=0.798;VQSLOD=3.6817;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,66:141:99:1661,0,1980 5 1225703 1225703 A G exonic SLC6A18 synonymous SNV SLC6A18:NM_182632:exon1:c.A111G:p.G37G 0.82 0.88 0.86 0.6 0.96 0.82 0.8993 0.8835 0.8487 0.6266 0.9790 0.9520 0.9156 0.8407 0.93 0.89 0.95 0.89 0.94 rs7724858 COSM149784 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8976 0.8875 0.8476 0.9535 0.6169 0.9764 0.9517 0.9180 0.8411 0.9159 0.8860 0.8549 0.9437 0.5788 0.9779 0.9559 0.9487 hom 4753.45 152 5 1225703 . A G 4753.45 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7900;MQ=57.50;MQ0=0;QD=31.27;VQSLOD=7.6678;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:4753,376,0 5 1467004 1467004 A G exonic LPCAT1 nonsynonymous SNV LPCAT1:NM_024830:exon13:c.T1280C:p.M427T 0.17 0.039 0.22 0.13 0.23 0.26 0.2355 0.0760 0.2451 0.1318 0.3173 0.2491 0.2578 0.2950 0.2 0.082 0.26 0.16 0.21 rs35452723 COSM4159609 1(pancreas);1(thyroid) . . . . . . . . . . . 0.002 0.721 D 0.063 0.219 B 0.028 0.201 B 0.000 0.843 D 0.000 0.588 P 2.665 0.782 M -0.27 0.674 T -3.92 0.731 D 0.321 0.810 -1.068 0.098 T 0.000 0.000 T . . . 2.668 0.382 20.6 0.979 0.366 0.957 0.658 D c -0.044 0.012 1.000 0.747 0.707 0.730 0 4.47 0.536 4.624 0.607 1.199 0.960 1.000 0.715 0.459 0.264 12.033 0.525 EF-hand domain pair ENSG00000142319.14 Lung 0.2416 0.0710 0.2525 0.1442 0.1389 0.3138 0.2554 0.2369 0.2943 0.2065 0.0831 0.2428 0.1291 0.1360 0.3153 0.2566 0.2618 het 1148.39 145 5 1467004 . A G 1148.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.809;DP=145;Dels=0.00;FS=3.378;HRun=0;HaplotypeScore=3.8091;MQ=59.32;MQ0=0;MQRankSum=1.470;QD=7.92;ReadPosRankSum=0.468;VQSLOD=4.4651;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,50:145:99:1178,0,2712 5 3600334 3600334 T C exonic IRX1 synonymous SNV IRX1:NM_024337:exon2:c.T1272C:p.N424N 0.85 0.91 0.89 0.76 0.92 0.75 0.8898 0.9113 0.9166 0.7433 0.9017 0.9255 0.9016 0.7873 0.92 0.91 0.92 0.9 0.86 rs844154 COSM4159862 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8861 0.9097 0.9177 0.8537 0.7308 0.8944 0.9283 0.9038 0.7806 0.9021 0.9035 0.9212 0.8212 0.7145 0.8994 0.9230 0.8975 hom 1710.69 60 5 3600334 . T C 1710.69 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;QD=28.51;VQSLOD=8.6294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1744,150,0 5 5146335 5146335 C G exonic ADAMTS16 nonsynonymous SNV ADAMTS16:NM_139056:exon3:c.C268G:p.P90A 0.7 0.57 0.87 0.5 0.81 0.83 0.7760 0.6248 0.8931 0.5142 0.7498 0.8005 0.8025 0.8304 0.76 0.64 0.82 0.71 0.79 rs2086310 COSM5000715 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.074 0.213 N 1 0.090 P -1.35 0.007 N 3.39 0.057 T 0.71 0.021 N 0.018 0.003 -1.058 0.121 T 0.000 0.000 T . . . -2.667 0.002 0.001 0.377 0.025 0.013 0.044 N c -1.959 -1.852 1.000 0.747 0.563 0.310 0 -0.853 0.101 -0.404 0.072 -1.212 0.016 0.000 0.063 0.000 0.016 2.156 0.035 Peptidase M12B\x2c propeptide . . 0.7842 0.6188 0.8896 0.9170 0.5083 0.7507 0.7992 0.8107 0.8288 0.7374 0.6319 0.8711 0.9172 0.5266 0.7620 0.8022 0.7735 hom 6204.24 189 5 5146335 . C G 6204.24 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=32.83;VQSLOD=9.5619;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:6204,482,0 5 5146377 5146377 T C exonic ADAMTS16 nonsynonymous SNV ADAMTS16:NM_139056:exon3:c.T310C:p.S104P 0.49 0.62 0.6 0.5 0.39 0.35 0.4375 0.5938 0.6942 0.5042 0.4466 0.3847 0.4666 0.3384 0.44 0.57 0.38 0.59 0.39 rs1019747 COSM4003547 1(breast);4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.285 0.152 T 0.0 0.026 B 0.001 0.093 B 0.010 0.302 N 0.999 0.213 P -0.06 0.049 N 3.44 0.054 T -1.29 0.324 N 0.03 0.011 -1.024 0.223 T 0.000 0.000 T . . . 1.450 0.237 13.05 0.962 0.285 0.543 0.293 D c -0.818 -0.696 1.000 0.747 0.707 0.730 0 0.125 0.140 0.242 0.177 -0.247 0.091 0.965 0.337 0.074 0.178 2.485 0.043 Peptidase M12B\x2c propeptide ENSG00000145536.11|ENSG00000145536.11 Cells_Transformed_fibroblasts|Testis 0.4454 0.5984 0.6762 0.3207 0.4963 0.4447 0.3880 0.4328 0.3405 0.4647 0.5946 0.6151 0.3444 0.5130 0.4562 0.3830 0.4201 het 2422.87 196 5 5146377 . T C 2422.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.512;DP=196;Dels=0.00;FS=0.565;HRun=2;HaplotypeScore=5.3823;MQ=59.39;MQ0=0;MQRankSum=1.327;QD=12.36;ReadPosRankSum=-0.912;VQSLOD=4.4755;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,88:196:99:2453,0,3192 5 5146395 5146395 A G exonic ADAMTS16 nonsynonymous SNV ADAMTS16:NM_139056:exon3:c.A328G:p.M110V 0.48 0.35 0.4 0.43 0.61 0.64 0.5537 0.3883 0.3005 0.4224 0.5525 0.6145 0.5244 0.6544 0.55 0.41 0.62 0.39 0.6 rs1863968 COSM4416027;COSM4416026 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.048 0.400 D 0.005 0.119 B 0.004 0.093 B 0.022 0.268 N 0.999 0.215 P 1.35 0.336 L 3.48 0.052 T -1.16 0.301 N 0.062 0.047 -0.902 0.478 T 0.000 0.000 T . . . -1.567 0.015 0.002 0.556 0.053 0.060 0.119 N c -1.413 -1.537 1.000 0.747 0.707 0.730 0 -11.5 0.001 -1.147 0.033 -0.224 0.096 0.014 0.188 0.412 0.256 8.248 0.307 Peptidase M12B\x2c propeptide ENSG00000145536.11|ENSG00000145536.11 Cells_Transformed_fibroblasts|Testis 0.5459 0.3821 0.3178 0.6756 0.4290 0.5549 0.6117 0.5628 0.6521 0.5241 0.3826 0.3816 0.6533 0.4140 0.5435 0.6154 0.5786 het 4132.38 225 5 5146395 . A G 4132.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.745;DP=225;Dels=0.00;FS=0.518;HRun=0;HaplotypeScore=5.9929;MQ=59.30;MQ0=0;MQRankSum=-0.450;QD=18.37;ReadPosRankSum=-1.300;VQSLOD=3.9693;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,128:225:99:3499,0,2758 5 5239921 5239921 C T exonic ADAMTS16 synonymous SNV ADAMTS16:NM_139056:exon16:c.C2406T:p.T802T 0.11 0.0061 0.11 0.076 0.19 0.22 0.1675 0.0327 0.0815 0.0885 0.1405 0.2029 0.1733 0.2165 0.14 0.034 0.2 0.087 0.23 rs11742341 COSM4417723;COSM4417724 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1649 0.0314 0.0870 0.2270 0.0891 0.1391 0.2026 0.1732 0.2188 0.1306 0.0379 0.1014 0.25 0.0841 0.1464 0.1839 0.1497 het 1835.44 139 5 5239921 . C T 1835.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.334;DP=139;Dels=0.00;FS=5.120;HRun=0;HaplotypeScore=1.9452;MQ=59.43;MQ0=0;MQRankSum=0.457;QD=13.20;ReadPosRankSum=0.061;VQSLOD=6.1004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,67:139:99:1865,0,1955 5 5240002 5240002 C A exonic ADAMTS16 synonymous SNV ADAMTS16:NM_139056:exon16:c.C2487A:p.I829I 0.11 0.0053 0.11 0.073 0.19 0.22 0.1663 0.0320 0.0801 0.0884 0.1478 0.2001 0.1752 0.2163 0.14 0.031 0.19 0.087 0.22 rs11742370 COSM4418360;COSM4418359 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1630 0.0304 0.0846 0.2275 0.0891 0.1443 0.1986 0.1708 0.2183 0.1289 0.0365 0.0967 0.2550 0.0840 0.1515 0.1801 0.1507 het 2298.58 232 5 5240002 . C A 2298.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.385;DP=232;Dels=0.00;FS=1.049;HRun=0;HaplotypeScore=6.1217;MQ=59.32;MQ0=0;MQRankSum=-0.003;QD=9.91;ReadPosRankSum=0.227;VQSLOD=4.9228;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:137,95:232:99:2329,0,3342 5 5303424 5303424 G A exonic ADAMTS16 nonsynonymous SNV ADAMTS16:NM_139056:exon19:c.G2833A:p.G945R 0.0044 0.0008 0.0043 . 0.013 0.0051 0.0152 0.0043 0.0081 0.0003 0.0109 0.0207 0.0093 0.0127 0.014 0.0042 0.019 . . rs34586473 . . . . . . . . . . . . . 0.002 0.721 D 0.99 0.689 D 0.846 0.683 P 0.030 0.254 N 1 0.090 N 2.25 0.640 M 0.63 0.531 T -4.43 0.775 D 0.121 0.135 -0.997 0.307 T 0.105 0.385 T . . . 3.099 0.432 22.5 0.996 0.740 0.064 0.123 N c -0.163 -0.373 1.000 0.500 0.615 0.372 0 2.27 0.274 1.227 0.320 0.953 0.551 0.005 0.169 0.043 0.159 3.131 0.060 . . . 0.0112 0.0040 0.0060 0.0030 0.0001 0.0081 0.0185 0.0098 0.0065 0.0114 0.0032 0.0095 0 0 0.0086 0.0183 0.0112 het 153.13 16 5 5303424 . G A 153.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.790;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5326;MQ=58.55;MQ0=0;MQRankSum=-1.030;QD=9.57;ReadPosRankSum=1.030;VQSLOD=4.6922;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,6:16:99:183,0,265 5 5460569 5460569 C T exonic ICE1 synonymous SNV ICE1:NM_015325:exon13:c.C1122T:p.Y374Y 0.72 0.71 0.82 0.69 0.65 0.76 0.6973 0.7179 0.8505 0.7222 0.6001 0.6612 0.6733 0.7566 0.68 0.73 0.67 0.73 . rs2578565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6914 0.7156 0.8384 0.6811 0.7178 0.5863 0.6518 0.6868 0.7341 0.6666 0.7104 0.8182 0.6987 0.7198 0.5890 0.6435 0.6792 hom 540.07 19 5 5460569 . C T 540.07 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.42;VQSLOD=13.6511;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:45.14:573,45,0 5 5460619 5460619 G C exonic ICE1 nonsynonymous SNV ICE1:NM_015325:exon13:c.G1172C:p.C391S 0.72 0.71 0.82 0.69 0.65 0.77 0.6964 0.7212 0.8530 0.7227 0.5998 0.6590 0.6738 0.7498 0.69 0.73 0.67 0.74 . rs2619844 COSM4159896;COSM4159897 1(thyroid) . . . . . . . . . . . 0.616 0.054 T 0.0 0.026 B 0.0 0.013 B 0.685 0.102 N 1 0.090 P -1.75 0.003 N 1.37 0.342 T 1.09 0.013 N 0.016 0.003 -0.991 0.324 T 0.000 0.000 T . . . -1.570 0.015 0.002 0.189 0.006 0.001 0.007 N c -1.460 -1.374 0.990 0.321 0.563 0.310 0 2.5 0.292 -0.693 0.052 -0.563 0.046 0.000 0.063 0.028 0.145 7.318 0.255 . . . 0.6981 0.7232 0.8431 0.6897 0.7210 0.5894 0.6571 0.6918 0.7451 0.6686 0.7160 0.8198 0.7020 0.7199 0.5892 0.6440 0.6810 hom 826.32 27 5 5460619 . G C 826.32 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.60;VQSLOD=14.0078;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:66.21:859,66,0 5 5462148 5462148 G A exonic ICE1 nonsynonymous SNV ICE1:NM_015325:exon13:c.G2701A:p.V901I 0.71 0.71 0.78 0.68 0.65 0.76 0.6852 0.7223 0.7507 0.7171 0.5989 0.6591 0.6756 0.7413 0.69 0.73 0.67 0.74 . rs2578500 COSM4159898;COSM4159899 1(thyroid) . . . . . . . . . . . 0.648 0.049 T 0.0 0.026 B 0.0 0.013 B 0.038 0.018 N 1 0.090 P 0.46 0.130 N 2.84 0.107 T -0.17 0.096 N 0.016 0.003 -0.981 0.349 T 0.000 0.000 T . . . -1.573 0.015 0.002 0.255 0.012 0.011 0.041 N c -2.043 -2.074 1.000 0.500 0.707 0.730 0 -5.57 0.023 -1.302 0.028 -1.211 0.016 0.000 0.063 0.000 0.016 7.260 0.252 . . . 0.6859 0.7241 0.7553 0.6899 0.7137 0.5903 0.6596 0.6818 0.7400 0.6655 0.7155 0.7375 0.7020 0.7102 0.5893 0.6438 0.6782 hom 5953.15 197 5 5462148 . G A 5953.15 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5661;MQ=59.88;MQ0=0;QD=30.22;VQSLOD=8.6151;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:5952,472,0 5 6633779 6633779 C G exonic SRD5A1 nonsynonymous SNV SRD5A1:NM_001324322:exon1:c.C116G:p.A39G 0.57 0.69 0.68 0.39 0.55 0.5 0.6079 0.7042 0.6838 0.5294 0.6406 0.6109 0.6028 0.5483 0.61 0.68 0.57 0.14 0.4 rs248793 COSM3761283;COSM3761282 2(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5476 0.6538 0.6223 0.5441 0.4047 0.5560 0.5424 0.5571 0.5166 0.5676 0.6487 0.6187 0.4868 0.4005 0.5629 0.5397 0.5463 het 164.26 13 5 6633779 . C G 164.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.660;DP=13;Dels=0.00;FS=7.160;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.312;QD=12.64;ReadPosRankSum=1.093;VQSLOD=4.2542;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:194,0,203 5 6651970 6651970 A G exonic SRD5A1 synonymous SNV SRD5A1:NM_001047:exon2:c.A309G:p.P103P,SRD5A1:NM_001324323:exon3:c.A90G:p.P30P 0.29 0.33 0.39 0.16 0.39 0.19 0.3274 0.3279 0.3176 0.1729 0.3122 0.3784 0.3190 0.2153 0.36 0.33 0.37 0.24 0.45 rs3822430 COSM149787 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3294 0.3340 0.3316 0.4604 0.1704 0.3107 0.3746 0.3515 0.2175 0.3382 0.3492 0.3544 0.4067 0.1669 0.3169 0.3543 0.3194 het 1904.45 166 5 6651970 . A G 1904.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.761;DP=166;Dels=0.00;FS=4.334;HRun=0;HaplotypeScore=0.9159;MQ=58.83;MQ0=0;MQRankSum=0.549;QD=11.47;ReadPosRankSum=0.918;VQSLOD=6.0151;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,81:166:99:1934,0,2126 5 6652009 6652009 G A exonic SRD5A1 synonymous SNV SRD5A1:NM_001047:exon2:c.G348A:p.A116A,SRD5A1:NM_001324323:exon3:c.G129A:p.A43A 0.29 0.33 0.39 0.16 0.39 0.2 0.3289 0.3279 0.3176 0.1729 0.3120 0.3785 0.3216 0.2261 0.36 0.33 0.37 0.23 0.48 rs8192186 COSM149788 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3318 0.3345 0.3338 0.4609 0.1711 0.3110 0.3754 0.3546 0.2298 0.3383 0.3492 0.3532 0.4067 0.1675 0.3170 0.3545 0.3198 het 2856.02 201 5 6652009 . G A 2856.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.085;DP=201;Dels=0.00;FS=2.562;HRun=0;HaplotypeScore=5.6945;MQ=59.20;MQ0=0;MQRankSum=0.174;QD=14.14;ReadPosRankSum=0.509;VQSLOD=4.9126;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,105:201:99:2886,0,2286 5 6656210 6656210 G A exonic SRD5A1 synonymous SNV SRD5A1:NM_001324322:exon2:c.G339A:p.T113T,SRD5A1:NM_001047:exon3:c.G480A:p.T160T,SRD5A1:NM_001324323:exon4:c.G261A:p.T87T 0.29 0.33 0.39 0.16 0.39 0.19 0.3277 0.3300 0.3171 0.1733 0.3123 0.3787 0.3190 0.2152 0.36 0.33 0.37 0.28 0.46 rs3736316 COSM149789 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3305 0.3363 0.3334 0.4608 0.1717 0.3109 0.3753 0.3538 0.2194 0.3387 0.3497 0.3561 0.4033 0.1683 0.3168 0.3548 0.3194 het 751.29 84 5 6656210 . G A 751.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.665;DP=84;Dels=0.00;FS=4.609;HRun=0;HaplotypeScore=3.9901;MQ=59.14;MQ0=0;MQRankSum=0.174;QD=8.94;ReadPosRankSum=-1.896;VQSLOD=4.1959;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,33:84:99:781,0,1305 5 6748659 6748659 T C exonic PAPD7 synonymous SNV PAPD7:NM_001171806:exon2:c.T252C:p.A84A,PAPD7:NM_001171805:exon8:c.T792C:p.A264A,PAPD7:NM_006999:exon8:c.T792C:p.A264A 0.56 0.4 0.58 0.58 0.68 0.64 0.6585 0.4405 0.6360 0.6062 0.6389 0.7095 0.6443 0.6416 0.62 0.44 0.7 0.7 0.7 rs274681 COSM149790 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6590 0.4318 0.6336 0.7060 0.6043 0.6390 0.7083 0.6777 0.6474 0.6150 0.4418 0.6587 0.6921 0.6137 0.6485 0.7006 0.6680 hom 8048.58 250 5 6748659 . T C 8048.58 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.1010;MQ=59.04;MQ0=0;QD=32.19;VQSLOD=2.8902;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:250:99:8014,692,0 5 6750496 6750496 G A exonic PAPD7 synonymous SNV PAPD7:NM_001171806:exon4:c.G450A:p.T150T,PAPD7:NM_001171805:exon10:c.G990A:p.T330T,PAPD7:NM_006999:exon10:c.G990A:p.T330T . . . . . . 4.129e-05 0 8.651e-05 0 0 6.008e-05 0 0 0.0001 . 0.0001 . . rs145632942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.27e-05 0 6.015e-05 0 0 0 3.603e-05 0.0004 0 3.229e-05 0.0001 0 0 0 0 0 0 het 972.55 89 5 6750496 . G A 972.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.936;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.96;MQ0=0;MQRankSum=0.252;QD=10.93;ReadPosRankSum=1.761;VQSLOD=4.6723;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,40:89:99:1003,0,1321 5 7520881 7520881 G T exonic ADCY2 nonsynonymous SNV ADCY2:NM_020546:exon3:c.G439T:p.V147L 0.092 0.054 0.099 . 0.21 0.11 0.1820 0.0803 0.0807 0.0042 0.2241 0.2460 0.1784 0.1353 0.19 0.088 0.25 0.11 0.25 rs13166360 COSM3761325 1(large_intestine) . . . . . . . . . . . 0.035 0.437 D 0.598 0.374 P 0.26 0.377 B 0.000 0.843 D 0.056 0.374 P 2.215 0.627 M -1.0 0.760 T -1.5 0.366 N 0.203 0.249 -1.130 0.018 T 0.000 0.000 T . . . 3.416 0.469 23.0 0.997 0.789 0.972 0.731 D c 0.432 0.518 1.000 0.747 0.732 0.924 0 5.45 0.796 6.139 0.713 1.048 0.713 1.000 0.715 1.000 0.888 16.452 0.838 Adenylate cyclase\x2c N-terminal . . 0.1816 0.0798 0.0967 0.2281 0.0013 0.2361 0.2462 0.1827 0.1370 0.1825 0.0856 0.1026 0.2483 0.0019 0.2332 0.2469 0.2286 het 1943.16 167 5 7520881 . G T 1943.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.930;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.8466;MQ=59.72;MQ0=0;MQRankSum=-0.776;QD=11.64;ReadPosRankSum=-0.983;VQSLOD=4.1221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:84,83:167:99:1973,0,2389 5 7743787 7743787 C T exonic ADCY2 synonymous SNV ADCY2:NM_020546:exon15:c.C1878T:p.S626S 0.32 0.3 0.32 0.059 0.58 0.38 0.4690 0.3348 0.2407 0.0607 0.5733 0.5832 0.5110 0.4215 0.5 0.34 0.58 0.43 0.49 rs62342477 COSM4159997;COSM4159996 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4632 0.3297 0.2544 0.6196 0.0566 0.5718 0.5814 0.5007 0.4195 0.4809 0.3597 0.2919 0.6358 0.0582 0.5796 0.5771 0.5438 hom 7924.23 246 5 7743787 . C T 7924.23 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7875;MQ=58.62;MQ0=0;QD=32.21;VQSLOD=9.1710;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7924,608,0 5 7835555 7835555 C G exonic C5orf49 nonsynonymous SNV C5orf49:NM_001089584:exon2:c.G204C:p.Q68H 0.18 0.18 0.17 0.097 0.22 0.22 0.2134 0.2007 0.1064 0.0908 0.1428 0.2515 0.1964 0.2352 0.23 0.2 0.24 0.23 0.19 rs6883562 . . . . . . . . . . . . . 0.037 0.465 D 0.965 0.541 D 0.471 0.450 P . . . 0.838 0.286 P 2.595 0.761 M 1.47 0.320 T -2.4 0.527 N 0.179 0.218 -1.035 0.188 T 0.000 0.000 T . . . 5.301 0.717 25.8 0.996 0.743 0.693 0.339 D c 0.087 0.048 0.757 0.234 0.554 0.246 0 1.68 0.231 0.855 0.273 0.071 0.179 0.982 0.353 0.977 0.480 5.371 0.153 . . . 0.2060 0.1984 0.1102 0.2767 0.0902 0.1574 0.2503 0.2223 0.2264 0.2098 0.2077 0.1388 0.2815 0.0989 0.1675 0.2367 0.1914 het 2201.79 171 5 7835555 . C G 2201.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.162;DP=171;Dels=0.00;FS=0.607;HRun=0;HaplotypeScore=5.3860;MQ=58.63;MQ0=0;MQRankSum=-2.915;QD=12.88;ReadPosRankSum=0.357;VQSLOD=3.0266;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,86:171:99:2232,0,2350 5 7866967 7866967 G C exonic FASTKD3 synonymous SNV FASTKD3:NM_024091:exon2:c.C1230G:p.A410A 0.82 0.93 0.85 0.67 0.82 0.8 0.8198 0.9014 0.8282 0.7023 0.8348 0.8254 0.8062 0.7962 0.85 0.89 0.82 0.8 0.79 rs162030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8197 0.9032 0.8351 0.7895 0.6992 0.8215 0.8304 0.8178 0.7986 0.8448 0.8987 0.8329 0.8113 0.7176 0.8128 0.8369 0.8279 hom 1579.56 52 5 7866967 . G C 1579.56 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=30.38;VQSLOD=9.4031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1613,132,0 5 7868030 7868030 T C exonic FASTKD3 nonsynonymous SNV FASTKD3:NM_024091:exon2:c.A167G:p.K56R 0.82 0.93 0.85 0.67 0.82 0.8 0.8201 0.9034 0.8288 0.7035 0.8348 0.8254 0.8062 0.7961 0.85 0.89 0.82 0.8 0.78 rs2966952 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.377 0.044 N 1 0.090 P -1.83 0.003 N 2.2 0.186 T 0.49 0.030 N 0.113 0.123 -0.976 0.358 T 0.000 0.000 T . . . -2.078 0.007 0.001 0.238 0.010 0.009 0.036 N c -1.738 -1.607 1.000 0.458 0.609 0.349 0 0.974 0.188 -0.480 0.066 -0.364 0.068 0.000 0.063 0.001 0.043 5.499 0.160 . ENSG00000124275.10|ENSG00000124275.10|ENSG00000124275.10 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal 0.8199 0.9054 0.8354 0.7895 0.6994 0.8214 0.8305 0.8182 0.7986 0.8453 0.9009 0.8329 0.8113 0.7184 0.8130 0.8366 0.8296 hom 4177.62 128 5 7868030 . T C 4177.62 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7300;MQ=59.71;MQ0=0;QD=32.64;VQSLOD=8.8038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4177,328,0 5 7870973 7870973 A G exonic MTRR nonsynonymous SNV MTRR:NM_002454:exon2:c.A66G:p.I22M,MTRR:NM_024010:exon2:c.A147G:p.I49M 0.36 0.25 0.28 0.26 0.52 0.52 0.4730 0.2773 0.2250 0.2811 0.5779 0.5485 0.5044 0.5220 0.45 0.27 0.55 0.32 0.49 rs1801394 COSM5001933 2(pancreas) other|other|Benign|Uncertain significance|drug response|Benign Neural_tube_defects\x2c_folate-sensitive\x2c_susceptibility_to|Down_syndrome\x2c_susceptibility_to|not_specified|Gastrointestinal_stromal_tumor|methotrexate_response_-_Toxicity/ADR|Disorders_of_Intracellular_Cobalamin_Metabolism RCV000007444.2|RCV000007445.2|RCV000126873.4|RCV000144926.1|RCV000211244.1|RCV000264714.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen|MedGen CN169374|D046152:C0238198:606764:ORPHA44890|CN236607|CN043592 . . . . . . 0.002 0.721 D 1.0 0.899 D 0.99 0.774 D 0.000 0.629 D 0.997 0.232 P 2.29 0.655 M -1.04 0.766 T -2.22 0.593 N 0.45 0.658 -0.905 0.474 T 0.000 0.000 T . . . 3.759 0.509 23.3 0.993 0.593 0.105 0.158 N c -0.070 -0.272 1.000 0.458 0.737 0.974 0 0.334 0.151 0.098 0.149 1.199 0.960 0.012 0.185 0.996 0.625 8.87 0.343 Flavodoxin/nitric oxide synthase|Flavoprotein-like domain ENSG00000124275.10|ENSG00000124275.10|ENSG00000124275.10|ENSG00000124275.10|ENSG00000124275.10 Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis 0.4678 0.2733 0.2492 0.4564 0.2808 0.5664 0.5546 0.4714 0.5244 0.4607 0.2831 0.2823 0.4702 0.2784 0.5655 0.5647 0.5256 hom 4241.43 128 5 7870973 . A G 4241.43 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=59.64;MQ0=0;QD=33.14;VQSLOD=9.4305;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4241,325,0 5 9154659 9154659 G C exonic SEMA5A synonymous SNV SEMA5A:NM_003966:exon12:c.C1422G:p.G474G 0.27 0.037 0.32 0.23 0.57 0.3 0.4224 0.1033 0.2456 0.2512 0.4649 0.5435 0.4347 0.3293 0.4 0.11 0.55 0.26 0.58 rs1806151 COSM4003627 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4251 0.1002 0.2670 0.5822 0.2476 0.4675 0.5472 0.4558 0.3304 0.3906 0.1156 0.2818 0.6093 0.2640 0.4785 0.5435 0.4244 het 2520.45 196 5 9154659 . G C 2520.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.263;DP=196;Dels=0.00;FS=10.361;HRun=3;HaplotypeScore=5.7504;MQ=59.36;MQ0=0;MQRankSum=-0.362;QD=12.86;ReadPosRankSum=-0.365;VQSLOD=4.1045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,91:196:99:2550,0,2818 5 9629529 9629529 G A exonic TAS2R1 nonsynonymous SNV TAS2R1:NM_019599:exon1:c.C616T:p.R206W 0.11 0.028 0.13 0.11 0.15 0.19 0.1505 0.0495 0.1152 0.1167 0.1703 0.1673 0.1604 0.1777 0.13 0.049 0.17 0.12 0.15 rs2234233 COSM149792 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.101 0.303 T 0.002 0.090 B 0.001 0.040 B 0.655 0.059 N 1 0.090 P 0.365 0.121 N 5.47 0.010 T -1.19 0.303 N 0.105 0.111 -0.902 0.478 T 0.000 0.000 T . . . 0.456 0.138 7.085 0.741 0.102 0.020 0.060 N c -1.796 -1.892 1.000 0.747 0.487 0.133 0 -11.3 0.001 -0.132 0.104 -0.877 0.028 0.000 0.063 0.003 0.074 2.355 0.040 . . . 0.1506 0.0505 0.1166 0.1755 0.1210 0.1615 0.1673 0.1529 0.1775 0.1370 0.0516 0.1038 0.2219 0.1247 0.1652 0.1795 0.1697 het 715.94 57 5 9629529 . G A 715.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.204;DP=57;Dels=0.00;FS=3.740;HRun=0;HaplotypeScore=1.9978;MQ=58.71;MQ0=0;MQRankSum=0.184;QD=12.56;ReadPosRankSum=0.312;VQSLOD=6.1414;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,27:57:99:746,0,792 5 10239278 10239278 C T exonic FAM173B synonymous SNV FAM173B:NM_001258388:exon2:c.G207A:p.P69P,FAM173B:NM_001258389:exon2:c.G207A:p.P69P,FAM173B:NM_199133:exon2:c.G207A:p.P69P 0.62 0.29 0.72 0.84 0.64 0.73 0.6524 0.3468 0.8008 0.8498 0.6374 0.6326 0.6470 0.7127 0.55 0.37 0.63 0.52 0.61 rs2252505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6598 0.3390 0.7888 0.6544 0.8467 0.6437 0.6254 0.6396 0.7153 0.5584 0.3452 0.7452 0.6954 0.8260 0.6372 0.6174 0.6319 hom 6028.13 180 5 10239278 . C T 6028.13 Mask AC=2;AF=1.00;AN=2;DP=180;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0053;MQ=59.02;MQ0=0;QD=33.49;VQSLOD=8.2807;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,179:180:99:6027,484,0 5 10254817 10254817 A G exonic CCT5 synonymous SNV CCT5:NM_001306153:exon3:c.A135G:p.G45G,CCT5:NM_001306156:exon3:c.A84G:p.G28G,CCT5:NM_012073:exon3:c.A198G:p.G66G 0.69 0.39 0.78 0.88 0.85 0.65 0.7895 0.4455 0.7962 0.8697 0.8556 0.8563 0.8007 0.6621 0.72 0.45 0.85 0.58 0.72 rs2578617 . . Benign Sensory_Neuropathy_with_Spastic_Paraplegia RCV000292326.1 MedGen CN239462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7993 0.4469 0.8025 0.8660 0.8634 0.8572 0.8552 0.8261 0.6645 0.7418 0.4596 0.7962 0.8576 0.8331 0.8603 0.8578 0.8166 hom 6398.38 202 5 10254817 . A G 6398.38 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3882;MQ=59.24;MQ0=0;QD=31.68;VQSLOD=7.6064;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:6398,488,0 5 10256161 10256161 T C exonic CCT5 synonymous SNV CCT5:NM_001306154:exon3:c.T261C:p.R87R,CCT5:NM_001306155:exon3:c.T147C:p.R49R,CCT5:NM_001306153:exon4:c.T363C:p.R121R,CCT5:NM_001306156:exon4:c.T312C:p.R104R,CCT5:NM_012073:exon4:c.T426C:p.R142R 0.69 0.4 0.78 0.88 0.86 0.66 0.7948 0.4623 0.7991 0.8777 0.8559 0.8612 0.8064 0.6635 0.73 0.46 0.86 0.56 0.75 rs1042392 COSM5513979 1(biliary_tract) Benign Sensory_Neuropathy_with_Spastic_Paraplegia RCV000349478.1 MedGen CN239462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8044 0.4611 0.8051 0.8669 0.8724 0.8575 0.8615 0.8283 0.6659 0.7493 0.4732 0.7983 0.8576 0.8465 0.8612 0.8637 0.8177 hom 2138.57 73 5 10256161 . T C 2138.57 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=29.30;VQSLOD=8.6712;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:73:99:2172,178,0 5 10282396 10282396 A G exonic CMBL synonymous SNV CMBL:NM_138809:exon5:c.T471C:p.I157I 0.43 0.48 0.44 0.075 0.72 0.42 0.5655 0.5023 0.3238 0.0940 0.6900 0.7023 0.5852 0.4179 0.63 0.5 0.7 0.46 0.63 rs10067744 COSM149793 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5593 0.4955 0.3454 0.7153 0.0923 0.6869 0.7036 0.5969 0.4137 0.6008 0.5046 0.3902 0.7053 0.1049 0.6912 0.6984 0.6092 het 440.94 58 5 10282396 . A G 440.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.724;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;MQRankSum=-0.368;QD=7.60;ReadPosRankSum=-0.221;VQSLOD=5.9618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,20:58:99:471,0,1044 5 13701525 13701525 T C exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon77:c.A13359G:p.T4453T 0.45 0.34 0.49 0.44 0.54 0.46 0.5013 0.3736 0.4868 0.4192 0.5339 0.5446 0.5132 0.4446 0.49 0.37 0.55 0.36 0.47 rs3734111 COSM3760927 1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000155500.2|RCV000284933.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5041 0.3706 0.4940 0.5278 0.4194 0.5289 0.5475 0.5117 0.4448 0.4755 0.3687 0.4868 0.5265 0.4486 0.5376 0.5243 0.4784 hom 3590.42 135 5 13701525 . T C 3590.42 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.653;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7712;MQ=58.76;MQ0=0;MQRankSum=0.236;QD=26.60;ReadPosRankSum=-0.236;VQSLOD=7.4015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,134:135:99:3566,259,0 5 13701536 13701536 T C exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon77:c.A13348G:p.I4450V 0.5 0.53 0.52 0.45 0.55 0.47 0.5190 0.5247 0.5006 0.4215 0.5340 0.5478 0.5308 0.4563 0.53 0.5 0.55 0.49 0.51 rs3734110 COSM3760928 2(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150463.2|RCV000342133.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.254 0.169 T 0.0 0.026 B 0.001 0.040 B 0.019 0.273 N 1.000 0.189 P -0.175 0.042 N 3.11 0.082 T 0.67 0.023 N 0.02 0.004 -0.982 0.345 T 0.000 0.000 T . . . 1.664 0.261 14.20 0.954 0.263 0.087 0.144 N c -0.552 -0.325 0.999 0.381 0.487 0.133 0 4.91 0.638 0.805 0.266 -0.377 0.066 0.655 0.280 0.932 0.405 7.674 0.275 Dynein heavy chain domain . . 0.5189 0.5187 0.5080 0.5394 0.4211 0.5290 0.5504 0.5283 0.4558 0.5174 0.5089 0.5012 0.5397 0.4484 0.5382 0.5272 0.4907 hom 3426.56 119 5 13701536 . T C 3426.56 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6126;MQ=58.02;MQ0=0;QD=28.79;VQSLOD=7.6140;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3426,253,0 5 13719022 13719022 T G exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon72:c.A12468C:p.G4156G 0.42 0.39 0.41 0.44 0.4 0.47 0.4156 0.3967 0.4483 0.4087 0.3239 0.4133 0.4317 0.4529 0.41 0.39 0.42 0.34 0.39 rs30169 . . Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000155502.2|RCV000358362.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4143 0.3955 0.4428 0.4165 0.4100 0.3265 0.4153 0.4174 0.4535 0.3867 0.3943 0.4378 0.4371 0.4338 0.3313 0.3871 0.3719 het 1357.01 108 5 13719022 . T G 1357.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.907;DP=108;Dels=0.00;FS=0.834;HRun=1;HaplotypeScore=2.7280;MQ=59.02;MQ0=0;MQRankSum=0.165;QD=12.56;ReadPosRankSum=2.147;VQSLOD=5.6371;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,53:108:99:1387,0,1353 5 13719089 13719089 G A exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon72:c.C12401T:p.A4134V 0.47 0.55 0.43 0.44 0.4 0.47 0.4290 0.5392 0.4542 0.4090 0.3238 0.4142 0.4372 0.4539 0.46 0.54 0.42 0.4 0.4 rs30168 COSM5895759 1(skin) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000155503.2|RCV000265989.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.416 N 1.000 0.202 P -1.26 0.008 N 3.16 0.077 T 2.65 0.002 N 0.03 0.011 -0.969 0.374 T 0.000 0.000 T . . . 0.414 0.134 6.739 0.176 0.005 0.033 0.082 N c -1.424 -1.214 0.005 0.109 0.554 0.246 0 1.72 0.234 1.044 0.297 0.168 0.246 0.167 0.237 0.992 0.562 3.023 0.057 Dynein heavy chain domain . . 0.4249 0.5371 0.4507 0.4226 0.4104 0.3262 0.4158 0.4253 0.4544 0.4264 0.5331 0.4533 0.4470 0.4352 0.3314 0.3866 0.3814 het 1564.15 125 5 13719089 . G A 1564.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.474;DP=125;Dels=0.00;FS=1.403;HRun=1;HaplotypeScore=1.7336;MQ=58.99;MQ0=0;MQRankSum=0.669;QD=12.51;ReadPosRankSum=-0.649;VQSLOD=6.7304;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,63:125:99:1594,0,1722 5 13737444 13737444 G A exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon66:c.C11372T:p.T3791I 0.066 0.02 0.085 0.048 0.15 0.043 0.1012 0.0307 0.0529 0.0384 0.2107 0.1340 0.1079 0.0355 0.094 0.031 0.13 0.065 0.18 rs17263496 . . Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000155504.2|RCV000300910.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.001 0.784 D 0.994 0.647 D 0.987 0.759 D 0.000 0.843 D 0.000 0.588 P 3.44 0.923 M 0.56 0.546 T -5.33 0.846 D 0.346 0.407 -0.928 0.444 T 0.006 0.021 T . . . 6.362 0.878 29.4 0.999 0.978 0.992 0.933 D c 0.942 0.889 1.000 0.747 0.487 0.133 0 5.44 0.793 8.042 0.891 1.048 0.713 1.000 0.715 0.995 0.604 19.267 0.940 . . . 0.1049 0.0294 0.0614 0.1474 0.0403 0.2041 0.1330 0.1112 0.0379 0.1115 0.0337 0.0585 0.1167 0.0433 0.2099 0.1432 0.1255 het 2503.48 184 5 13737444 . G A 2503.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.725;DP=184;Dels=0.00;FS=2.609;HRun=0;HaplotypeScore=3.7801;MQ=59.06;MQ0=0;MQRankSum=2.310;QD=13.61;ReadPosRankSum=-1.294;VQSLOD=5.1389;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,98:184:99:2533,0,2344 5 13788886 13788886 C A exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon51:c.G8586T:p.L2862F 0.21 0.13 0.26 0.22 0.27 0.21 0.2524 0.1594 0.2502 0.2134 0.2176 0.2820 0.2522 0.2270 0.25 0.16 0.29 0.22 0.18 rs10513155 COSM3760931 1(thyroid);1(large_intestine) Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000155505.2|RCV000330798.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.695 0.042 T 0.0 0.026 B 0.003 0.080 B 0.442 0.126 N 0.960 0.261 P 1.545 0.392 L 1.78 0.257 T -1.76 0.416 N 0.024 0.007 -0.946 0.416 T 0.000 0.000 T . . . 2.949 0.415 22.1 0.939 0.233 0.236 0.219 N c -0.583 -0.460 0.018 0.131 0.554 0.246 0 4.02 0.458 -0.376 0.075 0.077 0.185 0.001 0.137 0.578 0.284 5.576 0.164 . . . 0.2542 0.1583 0.2521 0.3342 0.2182 0.2197 0.2801 0.2771 0.2259 0.2244 0.1664 0.2518 0.3841 0.2522 0.2074 0.2541 0.2285 het 884.19 95 5 13788886 . C A 884.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.377;DP=95;Dels=0.00;FS=4.104;HRun=2;HaplotypeScore=4.7973;MQ=56.91;MQ0=0;MQRankSum=1.277;QD=9.31;ReadPosRankSum=-0.234;VQSLOD=3.7476;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,36:95:99:914,0,1552 5 13811775 13811775 T C exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon44:c.A7388G:p.Q2463R 0.26 0.19 0.18 0.56 0.21 0.17 0.2149 0.1985 0.1582 0.5430 0.1904 0.2024 0.2048 0.1542 0.2 0.2 0.2 0.24 0.26 rs10078391 . . Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150473.2|RCV000390072.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.017 0.512 D 0.389 0.328 B 0.194 0.349 B 0.000 0.843 D 0.000 0.588 P 3.015 0.864 M 1.79 0.255 T -2.24 0.501 N 0.28 0.339 -0.922 0.453 T 0.000 0.000 T . . . 3.051 0.427 22.4 0.995 0.657 0.992 0.929 D c 0.292 0.329 1.000 0.747 0.554 0.283 0 5.78 0.914 7.949 0.872 0.993 0.603 1.000 0.715 0.979 0.486 16.119 0.811 . . . 0.2134 0.2030 0.1582 0.1444 0.5514 0.1943 0.2064 0.1896 0.1549 0.2192 0.1935 0.1758 0.1391 0.5689 0.2020 0.2079 0.1694 het 1539.08 125 5 13811775 . T C 1539.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.846;DP=125;Dels=0.00;FS=0.718;HRun=0;HaplotypeScore=1.9951;MQ=59.65;MQ0=0;MQRankSum=1.202;QD=12.31;ReadPosRankSum=-0.186;VQSLOD=6.6511;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,57:125:99:1569,0,1821 5 13829799 13829799 G A exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon38:c.C6264T:p.A2088A 0.44 0.47 0.42 0.63 0.37 0.31 0.3863 0.4627 0.3759 0.6157 0.3180 0.3668 0.3673 0.3321 0.4 0.46 0.36 0.5 0.38 rs1348689 COSM3760935 1(thyroid);1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150476.2|RCV000308110.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3831 0.4642 0.3727 0.3602 0.6218 0.3249 0.3668 0.3740 0.3308 0.4030 0.4680 0.3878 0.3874 0.6455 0.3295 0.3622 0.3313 hom 3047.52 96 5 13829799 . G A 3047.52 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9985;MQ=59.52;MQ0=0;QD=31.75;VQSLOD=8.9623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3081,235,0 5 13845045 13845045 G A exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon32:c.C5172T:p.A1724A 0.45 0.52 0.41 0.62 0.36 0.33 0.3824 0.5018 0.3657 0.6206 0.3128 0.3530 0.3502 0.3422 0.4 0.5 0.35 0.5 0.36 rs10041113 COSM3760936 1(breast);1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000155509.2|RCV000354737.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3773 0.5025 0.3620 0.3394 0.6282 0.3204 0.3520 0.3607 0.3396 0.4102 0.5052 0.3789 0.3642 0.6484 0.3283 0.3563 0.3296 hom 4189.31 123 5 13845045 . G A 4189.31 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=34.06;VQSLOD=9.6927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4189,325,0 5 13900345 13900345 A G exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon15:c.T2229C:p.D743D 0.6 0.68 0.52 0.87 0.45 0.43 0.5015 0.6642 0.4717 0.8929 0.4104 0.4562 0.4824 0.4363 0.52 0.66 0.45 0.66 0.41 rs1445823 COSM3760941 1(large_intestine) Likely benign\x2cBenign|Benign not_specified\x2cnot_specified|Primary_ciliary_dyskinesia RCV000252572.1\x2cRCV000155515.2|RCV000327249.1 MedGen\x2cMedGen|MedGen:Orphanet CN169374\x2cCN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4976 0.6660 0.4709 0.4869 0.8905 0.4280 0.4534 0.4819 0.4398 0.5320 0.6719 0.4736 0.4768 0.8832 0.4323 0.4449 0.4622 hom 3485.06 115 5 13900345 . A G 3485.06 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;QD=30.30;VQSLOD=9.1460;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3485,259,0 5 13902220 13902220 T C exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon13:c.A1672G:p.T558A 0.39 0.15 0.43 0.76 0.4 0.29 0.4186 0.1968 0.3978 0.7634 0.3724 0.4374 0.4259 0.3168 0.33 0.19 0.41 0.43 0.19 rs1530498 . . Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150488.2|RCV000394892.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.786 0.032 T 0.002 0.090 B 0.016 0.166 B 0.000 0.537 N 0.000 0.479 P 2.465 0.718 M 0.67 0.522 T -1.68 0.401 N 0.173 0.210 -0.934 0.436 T 0.000 0.000 T . . . 2.086 0.312 16.76 0.804 0.127 0.929 0.567 D c -0.447 -0.326 0.989 0.317 0.487 0.133 0 2.56 0.297 1.213 0.318 1.061 0.807 0.905 0.313 0.999 0.750 8.861 0.342 Dynein heavy chain\x2c domain-1 . . 0.3970 0.1811 0.3830 0.4301 0.7604 0.3684 0.4021 0.4006 0.3031 0.3557 0.1953 0.3962 0.4470 0.7639 0.3688 0.3960 0.3845 hom 1269.06 45 5 13902220 . T C 1269.06 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=28.20;VQSLOD=8.6592;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:96.31:1302,96,0 5 13913885 13913885 A G exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon11:c.T1503C:p.I501I 0.53 0.57 0.45 0.85 0.38 0.36 0.4220 0.5354 0.3931 0.8619 0.3218 0.3794 0.4084 0.3539 0.43 0.53 0.38 0.59 0.34 rs3213936 COSM5429024 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150489.2|RCV000394893.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4186 0.5366 0.3923 0.4220 0.8606 0.3304 0.3766 0.4034 0.3585 0.4404 0.5411 0.4117 0.4338 0.8571 0.3315 0.3672 0.3914 het 889.18 70 5 13913885 . A G 889.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.577;DP=70;Dels=0.00;FS=4.779;HRun=0;HaplotypeScore=4.9857;MQ=58.41;MQ0=0;MQRankSum=1.059;QD=12.70;ReadPosRankSum=-0.600;VQSLOD=5.0077;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:919,0,800 5 13944512 13944512 A C exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon1:c.T36G:p.H12Q 0.91 0.87 0.96 0.89 0.93 0.94 0.9358 0.8875 0.9610 0.8855 0.9769 0.9454 0.9394 0.9197 0.93 0.89 0.94 0.89 0.92 rs339445 . . Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000155520.2|RCV000303227.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.008 0.312 N 1.000 0.090 P -2.095 0.002 N 2.0 0.215 T 1.25 0.010 N 0.064 0.049 -0.982 0.346 T 0.000 0.000 T . . . 0.644 0.155 8.459 0.629 0.069 0.033 0.083 N c -0.873 -0.559 1.000 0.517 0.487 0.133 0 3.81 0.429 0.762 0.260 0.067 0.174 1.000 0.715 0.997 0.653 3.054 0.058 . . . 0.9365 0.8845 0.9561 0.9522 0.8812 0.9776 0.9423 0.9324 0.9176 0.9302 0.8850 0.9535 0.9603 0.8682 0.9785 0.9487 0.9511 hom 3825.65 127 5 13944512 . A C 3825.65 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.93;MQ0=0;QD=30.12;VQSLOD=9.1235;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3825,289,0 5 14397238 14397238 T C exonic TRIO synonymous SNV TRIO:NM_007118:exon29:c.T4398C:p.D1466D 0.39 0.7 0.38 0.098 0.33 0.36 0.3826 0.6631 0.4718 0.0966 0.3331 0.3615 0.3551 0.3805 0.44 0.65 0.34 0.5 0.32 rs30774 COSM449031 1(kidney);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3427 0.6517 0.4108 0.4346 0.0748 0.2738 0.3255 0.3544 0.3529 0.3992 0.6575 0.4129 0.4172 0.0858 0.2722 0.3139 0.3595 het 155.22 17 5 14397238 . T C 155.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.165;DP=17;Dels=0.00;FS=1.957;HRun=0;HaplotypeScore=0.9332;MQ=57.39;MQ0=0;MQRankSum=0.818;QD=9.13;ReadPosRankSum=-0.818;VQSLOD=4.5995;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,8:17:99:185,0,239 5 14420027 14420027 A C exonic TRIO synonymous SNV TRIO:NM_007118:exon34:c.A5100C:p.T1700T 0.82 0.99 0.83 0.7 0.88 0.65 0.8298 0.9669 0.8129 0.7022 0.8507 0.8637 0.8348 0.6760 0.9 0.96 0.86 0.92 0.78 rs30612 COSM4159595 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8272 0.9703 0.8148 0.8892 0.7004 0.8447 0.8614 0.8479 0.6806 0.8768 0.9709 0.8305 0.8974 0.7165 0.8351 0.8536 0.8405 hom 2639.85 78 5 14420027 . A C 2639.85 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4691;MQ=59.11;MQ0=0;QD=33.84;VQSLOD=8.9652;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2673,211,0 5 14741984 14741984 T C exonic ANKH synonymous SNV ANKH:NM_054027:exon8:c.A963G:p.A321A 0.084 0.079 0.14 0.12 0.043 0.051 0.0672 0.0817 0.1957 0.1190 0.0349 0.0433 0.0442 0.0515 0.058 0.085 0.045 0.087 0.09 rs2288474 COSM149799 1(stomach) Benign|Benign Craniometaphyseal_dysplasia|Chondrocalcinosis RCV000268651.1|RCV000363328.1 MedGen:OMIM:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0265292:269300:ORPHA85184:36601008|HP:0000934:C0553730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0701 0.0810 0.1832 0.0266 0.1177 0.0327 0.0443 0.0572 0.0517 0.0596 0.0810 0.1447 0.0199 0.0931 0.0326 0.0465 0.0499 het 367.96 58 5 14741984 . T C 367.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.437;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6584;MQ=60.00;MQ0=0;MQRankSum=-0.077;QD=6.34;ReadPosRankSum=1.428;VQSLOD=4.7957;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,20:58:99:398,0,934 5 14769103 14769103 G A exonic ANKH synonymous SNV ANKH:NM_054027:exon2:c.C294T:p.A98A 0.12 0.042 0.12 0.024 0.18 0.26 0.1646 0.0589 0.0920 0.0293 0.1383 0.1930 0.1883 0.2471 0.15 0.06 0.19 0.21 0.13 rs17251667 COSM4419469 1(haematopoietic_and_lymphoid_tissue) Benign|Benign Craniometaphyseal_dysplasia|Chondrocalcinosis RCV000263336.1|RCV000355854.1 MedGen:OMIM:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0265292:269300:ORPHA85184:36601008|HP:0000934:C0553730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1615 0.0539 0.0926 0.1877 0.0283 0.1414 0.1939 0.1820 0.2501 0.1351 0.0566 0.1265 0.1656 0.0370 0.1329 0.1900 0.1619 het 1569.87 118 5 14769103 . G A 1569.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.024;DP=118;Dels=0.00;FS=10.895;HRun=0;HaplotypeScore=5.6555;MQ=59.41;MQ0=0;MQRankSum=-0.111;QD=13.30;ReadPosRankSum=0.713;VQSLOD=4.3993;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,61:118:99:1600,0,1435 5 15937010 15937010 C T exonic FBXL7 synonymous SNV FBXL7:NM_001278317:exon4:c.C1050T:p.L350L,FBXL7:NM_012304:exon4:c.C1191T:p.L397L 0.01 0.0015 0.013 . 0.032 0.0082 0.0248 0.0067 0.0157 0.0006 0.0198 0.0356 0.0247 0.0128 0.023 0.0062 0.032 0.011 . rs61748187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0240 0.0065 0.0162 0.0185 0.0003 0.0208 0.0366 0.0252 0.0127 0.0230 0.0076 0.0179 0.0166 0 0.0260 0.0347 0.0163 het 637.04 87 5 15937010 . C T 637.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.697;DP=87;Dels=0.00;FS=2.020;HRun=1;HaplotypeScore=3.5766;MQ=57.74;MQ0=0;MQRankSum=2.075;QD=7.32;ReadPosRankSum=-1.607;VQSLOD=2.8707;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,29:87:99:667,0,1559 5 16478200 16478200 G A exonic RETREG1 synonymous SNV RETREG1:NM_019000:exon5:c.C393T:p.D131D,RETREG1:NM_001034850:exon7:c.C816T:p.D272D 0.68 0.82 0.6 0.55 0.74 0.61 0.6661 0.8074 0.5488 0.5290 0.6213 0.7018 0.6435 0.6094 0.73 0.8 0.7 0.73 0.39 rs162848 . . Benign Hereditary_sensory_and_autonomic_neuropathy_type_II RCV000360491.1 MedGen C0020072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6530 0.8074 0.5541 0.7153 0.5225 0.6180 0.6958 0.6766 0.6046 0.7038 0.8002 0.5983 0.7067 0.5513 0.6227 0.6910 0.6667 het 496.42 32 5 16478200 . G A 496.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.151;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.09;MQ0=0;MQRankSum=0.833;QD=15.51;ReadPosRankSum=0.996;VQSLOD=6.6336;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,22:32:99:526,0,275 5 16673975 16673975 C G exonic MYO10 nonsynonymous SNV MYO10:NM_012334:exon36:c.G4988C:p.S1663T 0.82 0.98 0.81 0.77 0.67 0.84 0.7407 0.9430 0.8471 0.7753 0.7511 0.6651 0.7283 0.8298 0.75 0.93 0.67 0.87 . rs25901 COSM4159700;COSM4159701 1(pancreas);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.006 0.112 B . . . 0.994 0.235 P -0.325 0.035 N -2.88 0.915 D 1.23 0.012 N 0.03 0.017 -0.921 0.454 T 0.000 0.000 T . . . 2.021 0.304 16.35 0.377 0.025 0.124 0.171 N c -0.476 -0.198 1.000 0.747 0.707 0.730 0 5.41 0.782 8.161 0.895 0.073 0.181 1.000 0.715 0.997 0.653 16.411 0.835 MyTH4 domain . . 0.7408 0.9449 0.8356 0.6386 0.7781 0.7378 0.6643 0.7263 0.8301 0.7681 0.9382 0.8150 0.6225 0.7708 0.7398 0.6780 0.7321 hom 3977.59 134 5 16673975 . C G 3977.59 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=29.68;VQSLOD=8.8345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:3977,307,0 5 16681986 16681986 C T exonic MYO10 nonsynonymous SNV MYO10:NM_012334:exon31:c.G4183A:p.V1395M 0.0002 . 0.0014 . . . 0.0004 0.0002 0.0003 0 0.0003 0.0006 0 0 0.0006 0.0002 0.0008 . . rs180896948 . . . . . . . . . . . . . 0.098 0.496 T 0.99 0.715 D 0.724 0.610 P . . . 0.999 0.454 D 2.015 0.552 M -0.89 0.748 T -0.95 0.344 N 0.67 0.680 0.007 0.824 D 0.526 0.824 D 0.014 0.338 T 5.681 0.775 26.7 0.998 0.926 0.958 0.658 D c 0.590 0.608 1.000 0.747 0.672 0.522 0 5.74 0.900 2.298 0.430 0.935 0.490 0.989 0.365 0.998 0.697 19.902 0.970 PH domain-like|Pleckstrin homology domain . . 0.0005 0.0002 0.0004 0 0 0.0003 0.0008 0 0 0.0005 0.0003 0 0 0 0 0.0009 0 het 1291.89 125 5 16681986 . C T 1291.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.353;DP=125;Dels=0.00;FS=10.170;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;MQRankSum=-0.241;QD=10.34;ReadPosRankSum=-1.221;VQSLOD=2.6394;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,48:125:99:1322,0,2138 5 16769273 16769273 G A exonic MYO10 nonsynonymous SNV MYO10:NM_012334:exon10:c.C970T:p.R324W 0.48 0.34 0.4 0.54 0.6 0.55 0.5558 0.3838 0.3377 0.5736 0.5598 0.6075 0.5963 0.5815 0.53 0.39 0.6 0.43 . rs11750538 COSM3761089;COSM3761090 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.199 0.204 T 0.989 0.609 D 0.72 0.530 P . . . 0.002 0.448 P 0.775 0.195 N -2.39 0.884 D -2.0 0.716 N 0.439 0.494 -0.928 0.445 T 0.000 0.000 T . . . 5.494 0.746 26.2 0.967 0.300 0.917 0.538 D c 0.283 0.288 1.000 0.747 0.707 0.730 0 4.82 0.615 2.924 0.483 0.975 0.595 0.999 0.424 0.940 0.414 13.502 0.608 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.5431 0.3724 0.3413 0.6518 0.5616 0.5602 0.6016 0.5550 0.5731 0.5242 0.3874 0.3556 0.6933 0.5405 0.5524 0.5972 0.5867 het 746.79 42 5 16769273 . G A 746.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.186;DP=42;Dels=0.00;FS=3.067;HRun=2;HaplotypeScore=1.9402;MQ=58.55;MQ0=0;MQRankSum=0.158;QD=17.78;ReadPosRankSum=-0.358;VQSLOD=5.3439;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,29:42:99:777,0,281 5 19721490 19721490 T C exonic CDH18 synonymous SNV CDH18:NM_001167667:exon5:c.A609G:p.Q203Q,CDH18:NM_001291957:exon5:c.A609G:p.Q203Q,CDH18:NM_001349559:exon5:c.A609G:p.Q203Q,CDH18:NM_001349560:exon5:c.A609G:p.Q203Q,CDH18:NM_001349561:exon5:c.A609G:p.Q203Q,CDH18:NM_004934:exon5:c.A609G:p.Q203Q,CDH18:NM_001349556:exon6:c.A609G:p.Q203Q,CDH18:NM_001291956:exon7:c.A609G:p.Q203Q,CDH18:NM_001349558:exon8:c.A609G:p.Q203Q 0.96 0.87 0.99 1. 1. 1. 0.9887 0.8775 0.9939 1 1 0.9998 0.9967 0.9995 0.96 0.88 1. 0.98 1. rs12187552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9912 0.8747 0.9947 1 1 1 0.9997 0.9940 0.9998 0.9665 0.8826 0.9976 1 1 1 0.9996 0.9949 hom 7053.74 217 5 19721490 . T C 7053.74 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.5623;MQ=58.58;MQ0=0;QD=32.51;VQSLOD=6.9106;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:7053,542,0 5 21752050 21752050 A G exonic CDH12 synonymous SNV CDH12:NM_001317227:exon12:c.T2181C:p.D727D,CDH12:NM_001317228:exon12:c.T2061C:p.D687D,CDH12:NM_004061:exon15:c.T2181C:p.D727D 0.55 0.38 0.63 0.44 0.75 0.64 0.6569 0.4443 0.5477 0.4593 0.7309 0.7336 0.6971 0.6289 0.64 0.46 0.74 0.53 0.7 rs6451992 COSM149801 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6586 0.4324 0.5572 0.7825 0.4656 0.7264 0.7307 0.6964 0.6325 0.6245 0.4344 0.6365 0.7933 0.4595 0.7348 0.7188 0.6872 het 1555.08 130 5 21752050 . A G 1555.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.045;DP=130;Dels=0.00;FS=0.670;HRun=2;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;MQRankSum=-1.257;QD=11.96;ReadPosRankSum=-0.443;VQSLOD=5.3606;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,58:130:99:1585,0,1783 5 21752056 21752056 A G exonic CDH12 synonymous SNV CDH12:NM_001317227:exon12:c.T2175C:p.D725D,CDH12:NM_001317228:exon12:c.T2055C:p.D685D,CDH12:NM_004061:exon15:c.T2175C:p.D725D 0.55 0.38 0.63 0.44 0.75 0.64 0.6577 0.4437 0.5508 0.4591 0.7306 0.7346 0.7004 0.6290 0.64 0.45 0.74 0.53 0.7 rs6451993 COSM149802 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6596 0.4321 0.5608 0.7879 0.4656 0.7265 0.7313 0.6996 0.6325 0.6248 0.4337 0.6434 0.7987 0.4583 0.7347 0.7195 0.6887 het 1377.41 123 5 21752056 . A G 1377.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.393;DP=123;Dels=0.00;FS=3.290;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=1.310;QD=11.20;ReadPosRankSum=-0.593;VQSLOD=6.3894;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,55:123:99:1407,0,1842 5 21760731 21760731 T C exonic CDH12 synonymous SNV CDH12:NM_001317227:exon10:c.A1569G:p.Q523Q,CDH12:NM_001317228:exon10:c.A1449G:p.Q483Q,CDH12:NM_004061:exon13:c.A1569G:p.Q523Q 0.059 0.023 0.12 0.017 0.061 0.11 0.0780 0.0293 0.1581 0.0165 0.0746 0.0705 0.0762 0.1162 0.055 0.033 0.067 0.043 0.041 rs2303749 COSM3761188 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0811 0.0291 0.1549 0.0596 0.0134 0.0761 0.0710 0.0690 0.1139 0.0588 0.0297 0.1050 0.0430 0.0149 0.0713 0.0744 0.0724 het 2060.88 165 5 21760731 . T C 2060.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.457;DP=165;Dels=0.00;FS=1.931;HRun=0;HaplotypeScore=5.9153;MQ=59.30;MQ0=0;MQRankSum=-1.662;QD=12.49;ReadPosRankSum=0.322;VQSLOD=4.3159;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,76:165:99:2091,0,2354 5 21842436 21842436 A G exonic CDH12 synonymous SNV CDH12:NM_001317227:exon5:c.T648C:p.G216G,CDH12:NM_001317228:exon5:c.T528C:p.G176G,CDH12:NM_004061:exon8:c.T648C:p.G216G 0.061 0.043 0.11 0.018 0.049 0.11 0.0729 0.0414 0.1580 0.0182 0.0647 0.0599 0.0636 0.1200 0.049 0.043 0.052 0.054 0.041 rs17839323 COSM3761189 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0755 0.0402 0.1615 0.0448 0.0152 0.0661 0.0603 0.0638 0.1199 0.0541 0.0403 0.1038 0.0397 0.0161 0.0610 0.0615 0.0642 het 1586.03 103 5 21842436 . A G 1586.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.012;DP=103;Dels=0.00;FS=4.422;HRun=0;HaplotypeScore=3.8160;MQ=59.00;MQ0=0;MQRankSum=1.422;QD=15.40;ReadPosRankSum=0.985;VQSLOD=4.3922;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,56:103:99:1616,0,1131 5 22078584 22078584 C T exonic CDH12 nonsynonymous SNV CDH12:NM_001317227:exon2:c.G202A:p.V68M,CDH12:NM_001317228:exon3:c.G202A:p.V68M,CDH12:NM_004061:exon5:c.G202A:p.V68M 0.36 0.68 0.28 0.14 0.24 0.35 0.2988 0.6330 0.3024 0.1522 0.2886 0.2554 0.2930 0.3419 0.37 0.62 0.24 0.48 0.21 rs4371716 COSM3761190 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.454 0.089 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.204 P -0.7 0.018 N 9.26 0.000 T 0.71 0.021 N 0.072 0.124 -1.103 0.037 T 0.000 0.000 T . . . 2.996 0.420 22.2 0.982 0.385 0.217 0.213 N c -0.524 -0.235 0.172 0.178 0.487 0.133 0 5.5 0.813 5.781 0.684 0.154 0.240 1.000 0.715 0.999 0.750 11.527 0.497 Cadherin . . 0.2905 0.6397 0.3112 0.1788 0.1453 0.2914 0.2575 0.2600 0.3357 0.3598 0.6234 0.2709 0.1987 0.1283 0.2944 0.2589 0.3004 het 1602.30 112 5 22078584 . C T 1602.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.316;DP=112;Dels=0.00;FS=2.002;HRun=0;HaplotypeScore=1.8279;MQ=57.47;MQ0=0;MQRankSum=-0.359;QD=14.31;ReadPosRankSum=1.582;VQSLOD=4.3683;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,62:112:99:1632,0,1251 5 24511490 24511490 C T exonic CDH10 nonsynonymous SNV CDH10:NM_001317224:exon5:c.G948A:p.M316I,CDH10:NM_006727:exon6:c.G948A:p.M316I 0.0004 . . . . 0.002 0.0002 0 0.0002 0 0 0.0001 0.0011 0.0005 0.0001 . 0.0001 . . rs145397210 . . . . . . . . . . . . . 0.417 0.099 T 0.014 0.156 B 0.028 0.201 B 0.001 0.405 N 0.959 0.381 D 0.28 0.100 N 4.76 0.016 T -0.73 0.206 N 0.279 0.374 -0.750 0.580 T 0.005 0.015 T 0.008 0.202 T 2.196 0.325 17.49 0.959 0.275 0.774 0.378 D c -0.279 -0.075 0.935 0.272 0.554 0.246 0 5.22 0.722 2.331 0.433 0.852 0.362 1.000 0.715 0.994 0.587 11.263 0.481 Cadherin|Cadherin-like . . 0.0001 0 0.0002 0 0 0 7.166e-05 0.0004 0.0005 0.0001 0 0.0012 0 0 0 0.0002 0 het 2495.45 204 5 24511490 . C T 2495.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.548;DP=204;DS;Dels=0.00;FS=12.043;HRun=0;HaplotypeScore=5.7544;MQ=58.78;MQ0=0;MQRankSum=-0.170;QD=12.23;ReadPosRankSum=0.329;VQSLOD=2.3118;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,96:204:99:2525,0,3031 5 26988328 26988328 G A exonic CDH9 nonsynonymous SNV CDH9:NM_016279:exon2:c.C113T:p.A38V 0.38 0.69 0.27 0.15 0.47 0.19 0.4350 0.6894 0.2374 0.1594 0.5868 0.5027 0.4568 0.2205 0.56 0.69 0.5 0.42 0.46 rs2288466 COSM3761195 2(large_intestine) . . . . . . . . . . . 0.286 0.152 T 0.001 0.067 B 0.001 0.040 B 0.717 0.063 N 1 0.090 P -1.04 0.011 N 0.51 0.573 T -0.12 0.088 N 0.021 0.400 -0.922 0.454 T 0.000 0.000 T . . . 1.454 0.237 13.07 0.752 0.106 0.007 0.030 N c -1.075 -0.971 0.000 0.060 0.554 0.246 0 3.28 0.365 0.489 0.219 -0.158 0.107 0.000 0.063 0.027 0.143 8.432 0.317 . . . 0.4275 0.6913 0.2573 0.5029 0.1535 0.5794 0.5029 0.4400 0.2271 0.5442 0.6888 0.2847 0.4801 0.1510 0.5706 0.5157 0.4898 het 741.60 67 5 26988328 . G A 741.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.196;DP=67;Dels=0.00;FS=6.967;HRun=0;HaplotypeScore=3.7905;MQ=57.68;MQ0=0;MQRankSum=2.041;QD=11.07;ReadPosRankSum=1.925;VQSLOD=3.7043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,29:67:99:772,0,963 5 26988424 26988424 T C exonic CDH9 nonsynonymous SNV CDH9:NM_016279:exon2:c.A17G:p.Y6C 0.33 0.49 0.25 0.15 0.47 0.19 0.4194 0.5206 0.2288 0.1601 0.5868 0.5022 0.4502 0.2206 0.51 0.52 0.5 0.33 0.47 rs2288467 COSM5009599 1(large_intestine) . . . . . . . . . . . 0.512 0.238 T 0.0 0.026 B 0.001 0.040 B 0.166 0.175 N 1 0.090 P -1.28 0.007 N 0.5 0.568 T 1.85 0.006 N 0.059 0.472 -0.913 0.465 T 0.000 0.000 T . . . -0.523 0.054 0.193 0.116 0.002 0.017 0.054 N c -1.093 -0.978 0.000 0.055 0.638 0.428 0 2.69 0.308 -0.001 0.128 -0.007 0.133 0.760 0.290 0.134 0.200 4.153 0.096 . . . 0.4150 0.5181 0.2481 0.5037 0.1538 0.5798 0.5023 0.4333 0.2270 0.4944 0.5147 0.2787 0.4801 0.1508 0.5711 0.5150 0.4816 het 1288.03 99 5 26988424 . T C 1288.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.611;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9977;MQ=59.06;MQ0=0;MQRankSum=0.045;QD=13.01;ReadPosRankSum=-0.150;VQSLOD=6.6722;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,50:99:99:1318,0,1183 5 31409252 31409252 A G exonic DROSHA synonymous SNV DROSHA:NM_001100412:exon32:c.T3654C:p.N1218N,DROSHA:NM_013235:exon32:c.T3765C:p.N1255N 0.31 0.25 0.28 0.48 0.21 0.32 0.2457 0.2547 0.3218 0.4699 0.2011 0.1893 0.2646 0.3163 0.21 0.24 0.19 0.35 . rs2241337 COSM4003496 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2475 0.2578 0.3156 0.2774 0.4630 0.1974 0.1827 0.2326 0.3118 0.2202 0.2524 0.3222 0.3046 0.4433 0.2109 0.1741 0.1957 hom 791.50 26 5 31409252 . A G 791.50 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=30.44;VQSLOD=9.4097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:63.20:824,63,0 5 31423007 31423007 T C exonic DROSHA synonymous SNV DROSHA:NM_001100412:exon28:c.A3195G:p.P1065P,DROSHA:NM_013235:exon28:c.A3306G:p.P1102P 0.45 0.56 0.32 0.67 0.25 0.38 0.3302 0.5273 0.3666 0.6731 0.2630 0.2388 0.3429 0.3885 0.3 0.5 0.22 0.52 . rs2287584 COSM4003497 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3095 0.5188 0.3433 0.3053 0.6637 0.2479 0.2136 0.2857 0.3672 0.3292 0.5145 0.3421 0.3344 0.6485 0.2531 0.2087 0.2602 hom 855.61 29 5 31423007 . T C 855.61 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=29.50;VQSLOD=8.6474;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:81.20:889,81,0 5 32058115 32058115 A G exonic PDZD2 synonymous SNV PDZD2:NM_178140:exon12:c.A2106G:p.S702S 0.88 0.91 0.89 0.76 0.94 0.88 0.9057 0.9092 0.8496 0.7340 0.9160 0.9378 0.9108 0.8985 0.94 0.91 0.95 0.84 0.96 rs151861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9036 0.9139 0.8530 0.9211 0.7360 0.9179 0.9404 0.9137 0.8965 0.9087 0.9083 0.8522 0.92 0.7313 0.9199 0.9288 0.9090 hom 1746.65 54 5 32058115 . A G 1746.65 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=60.00;MQ0=0;QD=32.35;VQSLOD=9.2106;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1780,147,0 5 32403346 32403346 C T exonic ZFR nonsynonymous SNV ZFR:NM_016107:exon8:c.G1381A:p.V461I 0.92 0.98 0.88 0.86 0.96 0.88 0.9362 0.9804 0.9173 0.8518 0.9741 0.9522 0.9416 0.8858 0.96 0.98 0.95 0.9 0.97 rs4867440 . . . . . . . . . . . . . 0.489 0.080 T 0.0 0.026 B 0.0 0.013 B 0.306 0.145 N 1.000 0.090 P 2.295 0.656 M 3.47 0.052 T -0.26 0.112 N 0.022 0.005 -1.001 0.296 T 0.000 0.000 T . . . 1.446 0.236 13.03 0.861 0.158 0.152 0.186 N c -0.892 -0.789 0.997 0.355 0.707 0.730 0 0.807 0.178 0.344 0.196 -0.303 0.080 0.968 0.339 0.997 0.653 6.477 0.211 . ENSG00000150712.6 Skin_Sun_Exposed_Lower_leg 0.9355 0.9801 0.9200 0.9473 0.8439 0.9713 0.9519 0.9478 0.8899 0.9552 0.9770 0.9212 0.9238 0.8364 0.9751 0.9531 0.9562 hom 7205.96 226 5 32403346 . C T 7205.96 Mask AC=2;AF=1.00;AN=2;DP=226;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5743;MQ=59.24;MQ0=0;QD=31.88;VQSLOD=9.2876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7205,569,0 5 33535060 33535060 G A exonic ADAMTS12 nonsynonymous SNV ADAMTS12:NM_001324512:exon21:c.C4229T:p.T1410I,ADAMTS12:NM_030955:exon23:c.C4484T:p.T1495I 0.6 0.65 0.5 0.77 0.36 0.67 0.4902 0.6138 0.6099 0.7787 0.3851 0.3894 0.4536 0.6291 0.46 0.61 0.39 0.55 0.4 rs25754 COSM4003504 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.203 0.225 T 0.129 0.254 B 0.067 0.261 B 0.006 0.324 N 0.851 0.285 P 1.96 0.533 M 0.65 0.527 T -0.78 0.216 N 0.253 0.371 -0.943 0.422 T 0.000 0.000 T . . . 4.466 0.598 24.2 0.990 0.490 0.626 0.316 D c -0.081 0.020 0.099 0.163 0.638 0.428 0 4.1 0.470 1.367 0.336 1.048 0.713 0.875 0.306 0.597 0.288 8.619 0.328 . . . 0.4894 0.6161 0.5981 0.3144 0.7841 0.3787 0.3964 0.4361 0.6272 0.4735 0.6027 0.5635 0.3433 0.7983 0.3794 0.3852 0.4398 het 1190.53 101 5 33535060 . G A 1190.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.800;DP=101;Dels=0.00;FS=2.655;HRun=1;HaplotypeScore=3.6599;MQ=59.34;MQ0=0;MQRankSum=-0.207;QD=11.79;ReadPosRankSum=0.545;VQSLOD=6.1539;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,49:101:99:1221,0,1393 5 33549387 33549387 G A exonic ADAMTS12 synonymous SNV ADAMTS12:NM_001324512:exon19:c.C3972T:p.A1324A,ADAMTS12:NM_030955:exon21:c.C4227T:p.A1409A 0.044 0.019 0.052 . 0.11 0.049 0.0866 0.0315 0.0498 0.0015 0.0851 0.1196 0.0837 0.0590 0.089 0.033 0.12 0.022 0.11 rs61748195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0854 0.0275 0.0530 0.1041 0.0012 0.0826 0.1212 0.0981 0.0609 0.0771 0.0314 0.0513 0.1225 0.0019 0.0776 0.1119 0.0818 het 1595.82 106 5 33549387 . G A 1595.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.608;DP=106;Dels=0.00;FS=1.674;HRun=0;HaplotypeScore=1.8279;MQ=58.91;MQ0=0;MQRankSum=0.409;QD=15.05;ReadPosRankSum=1.025;VQSLOD=6.0731;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,58:106:99:1626,0,1263 5 33624430 33624430 A G exonic ADAMTS12 synonymous SNV ADAMTS12:NM_030955:exon14:c.T2049C:p.D683D 0.16 0.14 0.11 0.27 0.074 0.2 0.1095 0.1348 0.0912 0.2983 0.0695 0.0707 0.1068 0.1816 0.094 0.12 0.078 0.26 0.14 rs61748198 COSM4417860 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1079 0.1376 0.0863 0.0762 0.2968 0.0710 0.0728 0.0883 0.1786 0.1076 0.1358 0.0895 0.1026 0.3048 0.0773 0.0797 0.0857 het 1252.88 89 5 33624430 . A G 1252.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.617;DP=89;Dels=0.00;FS=0.855;HRun=0;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=-0.620;QD=14.08;ReadPosRankSum=-1.334;VQSLOD=5.8319;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,46:89:99:1283,0,1217 5 33881252 33881252 G A exonic ADAMTS12 nonsynonymous SNV ADAMTS12:NM_001324511:exon2:c.C461T:p.T154M,ADAMTS12:NM_001324512:exon2:c.C461T:p.T154M,ADAMTS12:NM_030955:exon2:c.C461T:p.T154M 0.033 0.012 0.01 0.082 0.012 0.046 0.0219 0.0091 0.0143 0.0816 0.0005 0.0071 0.0302 0.0713 0.0074 0.0089 0.0066 0.011 0.033 rs117518215 COSM4003506;COSM4003505 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.295 0.233 T 0.789 0.899 P 0.055 0.708 B 0.010 0.301 N 1 0.090 N 2.42 0.702 M 3.37 0.059 T -0.52 0.204 N 0.18 0.271 -1.070 0.094 T 0.003 0.010 T . . . 3.561 0.486 23.1 0.996 0.723 0.081 0.139 N c -0.131 -0.225 0.993 0.331 0.706 0.609 0 1.89 0.246 1.048 0.298 0.108 0.203 0.014 0.188 0.267 0.231 5.137 0.142 Peptidase M12B\x2c propeptide . . 0.0204 0.0077 0.0105 0.0042 0.0787 0.0013 0.0072 0.0248 0.0710 0.0098 0.0070 0.0095 0.0033 0.0718 0.0003 0.0073 0.0071 het 1416.59 104 5 33881252 . G A 1416.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.029;DP=104;Dels=0.00;FS=2.602;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=-1.070;QD=13.62;ReadPosRankSum=-0.344;VQSLOD=6.0162;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,58:104:99:1447,0,1235 5 33951693 33951693 C G exonic SLC45A2 nonsynonymous SNV SLC45A2:NM_001012509:exon5:c.G1122C:p.L374F,SLC45A2:NM_016180:exon5:c.G1122C:p.L374F 0.28 0.036 0.46 0.006 0.94 0.059 0.6403 0.1546 0.3391 0.0022 0.9794 0.9523 0.6498 0.0929 0.7 0.18 0.96 0.27 0.87 rs16891982 COSM5002370;COSM5002371 2(pancreas);1(skin) other|other\x2cBenign Skin/hair/eye_pigmentation\x2c_variation_in\x2c_5|Malignant_melanoma_of_skin\x2cnot_specified RCV000004763.4|RCV000022392.1\x2cRCV000178963.1 MedGen:OMIM|MeSH:MedGen:SNOMED_CT\x2cMedGen C2673584:227240|C562393:C0151779:93655004\x2cCN169374 Skin pigmentation 0.21 . 17999355 rs16891982 3E-11 0.003 0.682 D 0.995 0.657 D 0.962 0.706 D 0.000 0.629 D 0.000 0.810 P 3.005 0.862 M -1.61 0.823 D -2.68 0.609 D 0.381 0.714 -0.961 0.391 T 0.000 0.000 T . . . 5.884 0.807 27.4 0.999 0.953 0.933 0.575 D c 0.580 0.518 1.000 0.462 0.487 0.133 0 4.32 0.507 1.547 0.356 0.935 0.490 1.000 0.715 1.000 0.888 13.001 0.579 Major facilitator superfamily domain . . 0.6478 0.1454 0.379 0.9094 0.0016 0.9820 0.9553 0.7253 0.0973 0.6714 0.1632 0.4296 0.91 0.0049 0.9843 0.9650 0.8023 hom 6430.82 195 5 33951693 . C G 6430.82 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0539;MQ=59.12;MQ0=0;QD=32.98;VQSLOD=6.3892;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6430,509,0 5 33954511 33954511 T C exonic SLC45A2 nonsynonymous SNV SLC45A2:NM_001297417:exon3:c.A661G:p.S221G 0.83 0.88 0.9 0.82 0.99 0.58 0.8968 0.8995 0.8230 0.8089 0.9961 0.9884 0.8916 0.5822 0.96 0.9 0.99 0.85 1. rs2287949 COSM5424465;COSM5424464 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000178307.1 MedGen CN169374 . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.810 P . . . . . . 0.06 0.063 N . . -0.937 0.431 T 0.000 0.000 T . . . 0.092 0.102 3.522 0.686 0.084 0.039 0.091 N c -1.502 -1.512 1.000 0.747 0.487 0.133 0 -9.46 0.005 -2.362 0.012 -0.820 0.031 0.000 0.063 0.987 0.523 0.877 0.011 . . . 0.8988 0.8984 0.8409 0.9810 0.8115 0.9962 0.9890 0.9275 0.5820 0.9518 0.8960 0.8708 0.9834 0.8296 0.9974 0.9911 0.9440 hom 2670.56 88 5 33954511 . T C 2670.56 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7801;MQ=59.21;MQ0=0;QD=30.35;VQSLOD=8.6892;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:88:99:2704,223,0 5 33989518 33989518 C T exonic AMACR nonsynonymous SNV AMACR:NM_001167595:exon5:c.G829A:p.E277K,AMACR:NM_014324:exon5:c.G829A:p.E277K 0.7 0.79 0.65 0.88 0.73 0.38 0.7016 0.7825 0.6460 0.8556 0.7561 0.7429 0.6700 0.4216 0.76 0.78 0.75 0.71 0.71 rs2278008 COSM3761202 1(large_intestine) other|Benign|Benign not_specified|Alpha-methylacyl-CoA_racemase_deficiency|Oculocutaneous_albinism RCV000116324.3|RCV000302812.1|RCV000368392.1 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT CN169374|C1858325:614307|C0078918:ORPHA55:63844009 . . . . . . 1.0 0.047 T 0.0 0.026 B 0.001 0.040 B 0.001 0.404 N 0.999 0.588 P -0.57 0.023 N 0.75 0.502 T -0.36 0.134 N 0.018 0.017 -0.948 0.414 T 0.000 0.000 T . . . 2.431 0.353 19.02 0.886 0.176 0.408 0.263 N c -0.635 -0.368 1.000 0.747 0.732 0.924 0 5.7 0.886 2.058 0.408 0.147 0.235 1.000 0.715 1.000 0.888 6.320 0.203 CoA-transferase family III domain ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.6997 0.7849 0.6452 0.7418 0.8513 0.7590 0.7420 0.6943 0.4233 0.7488 0.7848 0.6456 0.7384 0.8630 0.7577 0.7227 0.7 hom 3798.66 111 5 33989518 . C T 3798.66 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.79;MQ0=0;QD=34.22;VQSLOD=9.7371;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:111:99:3798,304,0 5 33998883 33998883 A G exonic AMACR nonsynonymous SNV AMACR:NM_001167595:exon4:c.T602C:p.L201S,AMACR:NM_014324:exon4:c.T602C:p.L201S 0.71 0.82 0.71 0.85 0.69 0.46 0.6994 0.8165 0.7390 0.8286 0.7247 0.7070 0.6718 0.4907 0.75 0.82 0.71 0.74 0.68 rs2287939 COSM5941251;COSM5941250 1(skin) other|Benign not_specified|Alpha-methylacyl-CoA_racemase_deficiency RCV000116322.3|RCV000276161.1 MedGen|MedGen:OMIM CN169374|C1858325:614307 . . . . . . 0.437 0.093 T 0.001 0.067 B 0.007 0.121 B 0.089 0.024 N 1 0.090 P 0.47 0.131 N 0.49 0.558 T -2.61 0.572 D 0.073 0.078 -0.990 0.325 T 0.000 0.000 T . . . -0.658 0.047 0.090 0.375 0.025 0.052 0.109 N c -1.752 -1.809 1.000 0.747 0.706 0.609 0 -6.14 0.019 -0.718 0.050 -1.807 0.007 0.000 0.063 0.000 0.016 10.022 0.410 CoA-transferase family III domain ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Testis|Thyroid|Whole_Blood 0.7017 0.8189 0.7367 0.7518 0.8241 0.7299 0.7043 0.6950 0.4918 0.7389 0.8167 0.6981 0.7649 0.8346 0.7367 0.6893 0.6814 hom 3099.90 112 5 33998883 . A G 3099.90 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=27.68;VQSLOD=8.2173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3133,241,0 5 34004707 34004707 C T exonic AMACR nonsynonymous SNV AMACR:NM_001167595:exon3:c.G524A:p.G175D,AMACR:NM_014324:exon3:c.G524A:p.G175D 0.25 0.024 0.4 0.35 0.5 0.1 0.4108 0.0938 0.3959 0.3293 0.5328 0.5318 0.3921 0.1265 0.38 0.11 0.52 0.27 0.46 rs10941112 COSM5941249 1(skin) other|Benign not_specified|Alpha-methylacyl-CoA_racemase_deficiency RCV000116321.3|RCV000333635.1 MedGen|MedGen:OMIM CN169374|C1858325:614307 . . . . . . 0.049 0.421 D 0.915 0.499 P 0.622 0.563 P 0.000 0.843 D 0.000 0.810 P 3.885 0.961 H -0.66 0.724 T -4.78 0.812 D 0.345 0.550 -1.012 0.264 T 0.000 0.000 T . . . 6.788 0.924 32 0.999 0.939 0.967 0.705 D c 0.920 0.858 1.0 0.983 0.745 0.986 0 5.92 0.955 4.504 0.599 0.935 0.490 1.000 0.715 0.997 0.653 20.321 0.987 CoA-transferase family III domain ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000164175.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Uterus|Whole_Blood 0.4203 0.0879 0.4117 0.5402 0.3297 0.5302 0.5292 0.4572 0.1260 0.3891 0.0972 0.4057 0.5233 0.3393 0.5545 0.5194 0.4347 hom 6207.01 204 5 34004707 . C T 6207.01 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.715;DP=204;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9833;MQ=59.29;MQ0=0;MQRankSum=-0.323;QD=30.43;ReadPosRankSum=-0.306;VQSLOD=8.0674;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,203:204:99:6206,506,0 5 34008100 34008100 C T exonic AMACR nonsynonymous SNV AMACR:NM_001167595:exon1:c.G25A:p.V9M,AMACR:NM_014324:exon1:c.G25A:p.V9M,AMACR:NM_203382:exon1:c.G25A:p.V9M 0.29 0.14 0.41 0.35 0.51 0.1 0.4227 0.2032 0.4097 0.3309 0.5393 0.5344 0.4114 0.1282 0.42 0.21 0.52 0.32 0.43 rs3195676 COSM4982414;COSM449566 1(oesophagus) other|Benign not_specified|Alpha-methylacyl-CoA_racemase_deficiency RCV000116320.3|RCV000318434.1 MedGen|MedGen:OMIM CN169374|C1858325:614307 . . . . . . 0.038 0.443 D 0.888 0.468 P 0.301 0.483 B 0.172 0.173 N 1.000 0.191 P 3.025 0.866 M 0.32 0.585 T -0.46 0.176 N 0.094 0.196 -0.902 0.478 T 0.000 0.000 T . . . 0.941 0.184 10.32 0.980 0.366 0.065 0.124 N c -1.334 -1.633 1.0 0.983 0.442 0.072 0 -9.44 0.005 -0.850 0.044 -1.196 0.016 0.000 0.063 0.003 0.074 14.296 0.657 CoA-transferase family III domain ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3|ENSG00000242110.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Uterus 0.4243 0.1912 0.4248 0.5405 0.3333 0.5259 0.5291 0.4601 0.127 0.4205 0.2011 0.4212 0.52 0.3426 0.5559 0.5213 0.4405 hom 966.03 36 5 34008100 . C T 966.03 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;QD=26.83;VQSLOD=7.3863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:75.24:999,75,0 5 34807928 34807928 C T exonic RAI14 synonymous SNV RAI14:NM_001145523:exon5:c.C321T:p.V107V,RAI14:NM_001145520:exon6:c.C345T:p.V115V,RAI14:NM_001145522:exon6:c.C345T:p.V115V,RAI14:NM_015577:exon6:c.C345T:p.V115V,RAI14:NM_001145521:exon7:c.C345T:p.V115V,RAI14:NM_001145525:exon8:c.C354T:p.V118V 0.39 0.24 0.55 0.36 0.43 0.47 0.4079 0.2698 0.5676 0.3618 0.3624 0.4034 0.4207 0.4427 0.37 0.28 0.42 0.33 0.43 rs6895634 COSM3761205;COSM3761206;COSM5830109 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4170 0.2672 0.5571 0.3901 0.3575 0.3662 0.4098 0.4197 0.4430 0.3623 0.2775 0.4916 0.3874 0.3741 0.3603 0.4009 0.3969 het 1682.24 166 5 34807928 . C T 1682.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.147;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7569;MQ=59.06;MQ0=0;MQRankSum=-0.106;QD=10.13;ReadPosRankSum=0.090;VQSLOD=6.5263;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,74:166:99:1712,0,2268 5 34811131 34811131 G A exonic RAI14 synonymous SNV RAI14:NM_001145523:exon7:c.G441A:p.P147P,RAI14:NM_001145520:exon8:c.G465A:p.P155P,RAI14:NM_001145522:exon8:c.G465A:p.P155P,RAI14:NM_015577:exon8:c.G465A:p.P155P,RAI14:NM_001145521:exon9:c.G465A:p.P155P,RAI14:NM_001145525:exon10:c.G474A:p.P158P 0.08 0.0091 0.11 0.011 0.16 0.14 0.1624 0.0288 0.0848 0.0088 0.2709 0.1998 0.1806 0.1859 0.14 0.034 0.19 0.043 0.22 rs35607113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1632 0.0258 0.0854 0.2043 0.0080 0.2752 0.1961 0.1805 0.1870 0.1494 0.0336 0.1017 0.16 0.0111 0.2665 0.2034 0.2061 het 4050.62 248 5 34811131 . G A 4050.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.374;DP=248;DS;Dels=0.00;FS=7.057;HRun=0;HaplotypeScore=2.5218;MQ=59.34;MQ0=0;MQRankSum=1.186;QD=16.33;ReadPosRankSum=0.067;VQSLOD=4.0047;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,127:248:99:3387,0,3132 5 34811137 34811137 T G exonic RAI14 synonymous SNV RAI14:NM_001145523:exon7:c.T447G:p.L149L,RAI14:NM_001145520:exon8:c.T471G:p.L157L,RAI14:NM_001145522:exon8:c.T471G:p.L157L,RAI14:NM_015577:exon8:c.T471G:p.L157L,RAI14:NM_001145521:exon9:c.T471G:p.L157L,RAI14:NM_001145525:exon10:c.T480G:p.L160L 0.32 0.074 0.49 0.36 0.39 0.42 0.3503 0.1184 0.5273 0.3714 0.3364 0.3456 0.3709 0.3843 0.28 0.12 0.36 0.3 0.28 rs2271522 COSM4003508;COSM4003507 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3609 0.1154 0.5181 0.3420 0.3669 0.3369 0.3467 0.3575 0.3841 0.2871 0.1234 0.4544 0.3411 0.3829 0.3359 0.3461 0.3507 het 4151.82 244 5 34811137 . T G 4151.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.026;DP=244;DS;Dels=0.00;FS=12.880;HRun=0;HaplotypeScore=1.9970;MQ=59.42;MQ0=0;MQRankSum=0.028;QD=17.02;ReadPosRankSum=-1.201;VQSLOD=3.8710;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,120:244:99:3513,0,3222 5 34824555 34824555 G T exonic RAI14 nonsynonymous SNV RAI14:NM_001145522:exon14:c.G2521T:p.A841S,RAI14:NM_001145523:exon14:c.G2584T:p.A862S,RAI14:NM_001145520:exon15:c.G2608T:p.A870S,RAI14:NM_015577:exon15:c.G2608T:p.A870S,RAI14:NM_001145521:exon16:c.G2608T:p.A870S,RAI14:NM_001145525:exon17:c.G2617T:p.A873S 0.44 0.29 0.59 0.37 0.49 0.55 0.4919 0.3213 0.6029 0.3746 0.5032 0.4931 0.5136 0.5624 0.43 0.31 0.49 0.37 0.32 rs1048944 COSM3761207;COSM3761208;COSM5830114 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.28 0.001 N 2.02 0.211 T 0.15 0.053 N 0.037 0.017 -0.959 0.394 T 0.000 0.000 T . . . 1.243 0.215 11.97 0.968 0.308 0.033 0.083 N c -1.132 -0.930 1.000 0.489 0.707 0.730 0 4.43 0.528 0.624 0.240 0.152 0.238 0.266 0.248 0.863 0.360 8.811 0.339 . . . 0.4945 0.3100 0.5946 0.5127 0.3676 0.5094 0.4876 0.5084 0.5550 0.4431 0.3220 0.5444 0.4768 0.3901 0.4983 0.4959 0.5081 het 425.07 48 5 34824555 . G T 425.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.024;DP=48;Dels=0.00;FS=10.403;HRun=0;HaplotypeScore=0.9332;MQ=58.34;MQ0=0;MQRankSum=0.401;QD=8.86;ReadPosRankSum=-1.940;VQSLOD=3.7216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,19:48:99:455,0,743 5 34840841 34840841 A G exonic TTC23L nonsynonymous SNV TTC23L:NM_001317949:exon2:c.A92G:p.H31R,TTC23L:NM_144725:exon2:c.A65G:p.H22R 0.54 0.9 0.41 0.26 0.55 0.42 0.5281 0.8561 0.3933 0.2680 0.5873 0.5479 0.5402 0.4596 0.64 0.86 0.54 0.6 . rs6451173 COSM4003509 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.678 0.044 T 0.0 0.026 B 0.002 0.063 B 0.812 0.092 N 1 0.090 P 2.3 0.659 M 2.69 0.123 T -1.1 0.285 N 0.006 0.010 -0.912 0.466 T 0.000 0.000 T . . . -1.446 0.018 0.003 0.261 0.012 0.032 0.081 N c -1.368 -1.397 1.000 0.480 0.615 0.372 0 -1.25 0.089 0.327 0.193 -0.241 0.092 0.022 0.197 0.703 0.310 5.621 0.166 . . . 0.5173 0.8676 0.3976 0.5823 0.2694 0.5824 0.5406 0.5393 0.4568 0.6278 0.8603 0.4581 0.5861 0.2732 0.5926 0.5533 0.5625 hom 6383.64 198 5 34840841 . A G 6383.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.026;DP=198;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6514;MQ=59.39;MQ0=0;MQRankSum=0.818;QD=32.24;ReadPosRankSum=-0.308;VQSLOD=8.2888;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,197:198:99:6345,484,0 5 34998877 34998877 C A exonic AGXT2 nonsynonymous SNV AGXT2:NM_001306173:exon12:c.G1267T:p.V423L,AGXT2:NM_031900:exon14:c.G1492T:p.V498L 0.24 0.046 0.26 0.42 0.23 0.29 0.2369 0.0693 0.2876 0.4198 0.2320 0.2248 0.2687 0.2599 0.18 0.076 0.23 0.21 0.25 rs16899974 . . . . . . . . . . . . . 0.243 0.564 T 0.088 0.235 B 0.041 0.226 B 0.052 0.229 N 0.993 0.238 P 1.835 0.484 L 2.26 0.387 T -1.46 0.358 N 0.098 0.150 -0.916 0.461 T 0.000 0.000 T . . . 0.954 0.185 10.39 0.896 0.184 0.678 0.333 D c -0.742 -0.614 0.989 0.318 0.487 0.133 0 3.85 0.434 1.502 0.351 -0.401 0.062 0.997 0.399 0.370 0.249 10.616 0.444 Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 ENSG00000168724.10 Thyroid 0.2407 0.0664 0.2801 0.1856 0.4204 0.2288 0.2267 0.2381 0.2610 0.1894 0.0703 0.2410 0.1689 0.4157 0.2155 0.2226 0.2373 hom 2835.59 97 5 34998877 . C A 2835.59 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=59.33;MQ0=0;QD=29.23;VQSLOD=7.9520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2869,220,0 5 35010138 35010138 A G exonic AGXT2 synonymous SNV AGXT2:NM_001306173:exon10:c.T1080C:p.G360G,AGXT2:NM_031900:exon12:c.T1305C:p.G435G 0.89 0.86 0.94 0.79 1. 0.91 0.9586 0.8721 0.9600 0.8018 0.9983 0.9992 0.9714 0.9134 0.96 0.88 1. 0.84 1. rs466067 COSM4003510 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9608 0.8696 0.9608 0.9949 0.8052 0.9988 0.9993 0.9814 0.9114 0.9500 0.8677 0.9618 1 0.7948 0.9997 0.9992 0.9827 hom 3548.49 116 5 35010138 . A G 3548.49 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.583;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5908;MQ=59.26;MQ0=0;MQRankSum=-1.075;QD=30.59;ReadPosRankSum=1.314;VQSLOD=8.5229;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,115:116:99:3548,268,0 5 35033605 35033605 G A exonic AGXT2 nonsynonymous SNV AGXT2:NM_001306173:exon6:c.C635T:p.T212I,AGXT2:NM_031900:exon6:c.C635T:p.T212I 0.88 0.8 0.93 0.78 1. 0.91 0.9491 0.8249 0.9281 0.7873 0.9949 0.9976 0.9614 0.9118 0.94 0.83 1. 0.85 0.98 rs180749 . . . . . . . . . . . . . 0.299 0.156 T 0.099 0.241 B 0.06 0.253 B 0.001 0.006 N 1 0.090 P 1.41 0.357 L -2.04 0.857 D -3.22 0.649 D 0.046 0.117 -0.934 0.435 T 0.000 0.000 T . . . -0.442 0.059 0.305 0.803 0.127 0.039 0.092 N c -1.128 -1.218 0.991 0.322 0.497 0.185 0 -5.24 0.026 -0.914 0.041 -0.200 0.102 0.000 0.063 0.017 0.128 3.214 0.062 Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 1 . . 0.9517 0.8224 0.9334 0.9948 0.7881 0.9959 0.9982 0.9730 0.9093 0.9339 0.8206 0.9391 1 0.7739 0.9983 0.9977 0.9745 hom 3982.01 141 5 35033605 . G A 3982.01 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7098;MQ=59.17;MQ0=0;QD=28.24;VQSLOD=7.4884;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,140:141:99:3981,316,0 5 35039437 35039437 A G exonic AGXT2 synonymous SNV AGXT2:NM_001306173:exon3:c.T354C:p.H118H,AGXT2:NM_031900:exon3:c.T354C:p.H118H 0.4 0.43 0.41 0.23 0.58 0.33 0.4957 0.4322 0.3254 0.2436 0.5537 0.5902 0.5088 0.3807 0.54 0.42 0.6 0.4 0.3 rs2279651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4914 0.4312 0.3371 0.5484 0.2382 0.5482 0.5962 0.5322 0.3857 0.5170 0.4293 0.3986 0.5861 0.2441 0.5558 0.5919 0.5429 het 2320.01 222 5 35039437 . A G 2320.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.060;DP=222;Dels=0.00;FS=1.054;HRun=0;HaplotypeScore=5.6179;MQ=59.12;MQ0=0;MQRankSum=-0.898;QD=10.45;ReadPosRankSum=-0.156;VQSLOD=4.9370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:127,95:222:99:2350,0,3248 5 35039486 35039486 C T exonic AGXT2 nonsynonymous SNV AGXT2:NM_001306173:exon3:c.G305A:p.S102N,AGXT2:NM_031900:exon3:c.G305A:p.S102N 0.81 0.98 0.71 0.54 0.91 0.82 0.8437 0.9729 0.5964 0.5279 0.8989 0.9031 0.8480 0.8389 0.93 0.97 0.91 0.84 0.8 rs37370 . . . . . . . . . . . . . 0.33 0.141 T 0.0 0.026 B 0.0 0.013 B 0.001 0.422 N 1 0.090 P -2.13 0.001 N 2.41 0.372 T 0.9 0.016 N 0.01 0.002 -0.949 0.412 T 0.000 0.000 T . . . 2.049 0.307 16.53 0.974 0.330 0.147 0.184 N c -1.011 -0.713 0.698 0.226 0.487 0.133 0 3.34 0.372 0.330 0.193 0.154 0.240 0.149 0.234 0.998 0.697 8.049 0.296 Pyridoxal phosphate-dependent transferase . . 0.8320 0.9759 0.6220 0.8811 0.5255 0.8959 0.9032 0.8503 0.8383 0.8945 0.9745 0.7029 0.8874 0.5409 0.9041 0.8962 0.8697 hom 4792.49 162 5 35039486 . C T 4792.49 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4023;MQ=59.36;MQ0=0;QD=29.58;VQSLOD=8.0915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:4792,376,0 5 35700598 35700598 T C exonic SPEF2 synonymous SNV SPEF2:NM_024867:exon16:c.T2142C:p.N714N 0.44 0.53 0.41 0.26 0.57 0.4 0.5095 0.5610 0.3369 0.2679 0.6022 0.5672 0.5536 0.4519 0.56 0.56 0.56 0.47 0.51 rs6451206 COSM449580 3(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455265.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5013 0.5601 0.3519 0.5777 0.2629 0.5990 0.5618 0.5382 0.4506 0.5496 0.5666 0.3974 0.5927 0.2794 0.6026 0.5632 0.5653 hom 2275.70 84 5 35700598 . T C 2275.70 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=58.45;MQ0=0;QD=27.09;VQSLOD=6.9740;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2309,175,0 5 35709095 35709095 C T exonic SPEF2 nonsynonymous SNV SPEF2:NM_024867:exon19:c.C2711T:p.A904V . . . . . . 0.7556 0.6634 0.6575 0.7779 0.7734 0.7952 0.7795 0.6987 0.76 0.67 0.8 0.7 0.68 rs13170082 COSM3761216 1(large_intestine) Benign not_specified RCV000456071.1 MedGen CN169374 . . . . . . 0.575 0.079 T 0.001 0.067 B 0.002 0.063 B 0.803 0.068 N 1 0.090 P 1.01 0.254 L 3.31 0.068 T -0.67 0.193 N 0.029 0.013 -1.043 0.163 T 0.000 0.000 T . . . 1.316 0.222 12.35 0.778 0.116 0.011 0.040 N c -0.989 -0.981 0.008 0.117 0.554 0.246 0 -2.83 0.054 -0.059 0.116 0.065 0.171 0.031 0.203 0.932 0.405 6.649 0.220 . ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8 Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Nerve_Tibial 0.7554 0.6598 0.6815 0.8048 0.7774 0.7704 0.7951 0.7705 0.6975 0.7523 0.6615 0.7105 0.7980 0.7803 0.7778 0.7951 0.7898 hom 2699.71 94 5 35709095 . C T 2699.71 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.695;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.3437;MQ=58.46;MQ0=0;MQRankSum=-1.471;QD=28.72;ReadPosRankSum=-0.615;VQSLOD=7.2069;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,93:94:99:2733,220,0 5 35709184 35709184 G C exonic SPEF2 nonsynonymous SNV SPEF2:NM_024867:exon19:c.G2800C:p.A934P . . . . . . 0.7556 0.6639 0.6573 0.7775 0.7732 0.7954 0.7795 0.6987 0.76 0.67 0.79 0.7 0.69 rs13170390 COSM3761217 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000454880.1 MedGen CN169374 . . . . . . 0.543 0.099 T 0.0 0.026 B 0.0 0.013 B 0.198 0.033 N 1 0.090 P -1.43 0.006 N 3.29 0.067 T -0.23 0.121 N 0.024 0.011 -0.985 0.339 T 0.000 0.000 T . . . -0.949 0.034 0.020 0.477 0.039 0.002 0.013 N c -1.724 -1.689 0.007 0.115 0.554 0.246 0 -2.15 0.067 -2.473 0.011 -1.127 0.018 0.000 0.063 0.015 0.124 0.399 0.004 . ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8|ENSG00000152582.8 Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Nerve_Tibial 0.7551 0.6597 0.6809 0.8043 0.7772 0.7704 0.7951 0.7702 0.6970 0.7523 0.6619 0.7081 0.7980 0.7799 0.7779 0.7950 0.7882 hom 5252.76 185 5 35709184 . G C 5252.76 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6717;MQ=58.44;MQ0=0;QD=28.39;VQSLOD=6.3335;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,184:185:99:5252,397,0 5 35861068 35861068 T C exonic IL7R nonsynonymous SNV IL7R:NM_002185:exon2:c.T197C:p.I66T 0.6 0.76 0.54 0.43 0.7 0.5 0.6279 0.7506 0.4888 0.4231 0.7318 0.6748 0.6586 0.5219 0.7 0.75 0.67 0.62 0.79 rs1494558 COSM149813 1(stomach);18(soft_tissue);2(large_intestine) Pathogenic|Benign|Benign Severe_combined_immunodeficiency\x2c_autosomal_recessive\x2c_T_cell-negative\x2c_B_cell-positive\x2c_NK_cell-positive|not_specified|Severe_Combined_Immune_Deficiency RCV000015964.25|RCV000121212.2|RCV000340761.1 MedGen:OMIM|MedGen|MedGen C1837028:608971|CN169374|CN239264 . . . . . . 0.881 0.025 T 0.0 0.026 B 0.0 0.013 B 0.505 0.119 N 1.000 0.090 P . . . -0.76 0.734 T 2.11 0.004 N 0.021 0.009 -0.953 0.406 T 0.000 0.000 T . . . -0.950 0.034 0.020 0.548 0.051 0.365 0.253 N c -1.029 -0.907 1.000 0.747 0.615 0.372 0 2.16 0.265 0.311 0.190 -2.331 0.003 0.984 0.356 0.292 0.236 3.678 0.078 . ENSG00000168685.10 Testis 0.6189 0.7511 0.4872 0.6192 0.4223 0.7321 0.6743 0.6607 0.5170 0.6843 0.7474 0.5358 0.6556 0.4071 0.7387 0.6751 0.6612 hom 4086.43 135 5 35861068 . T C 4086.43 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8689;MQ=58.71;MQ0=0;QD=30.27;VQSLOD=8.6676;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4086,316,0 5 35871190 35871190 G A exonic IL7R nonsynonymous SNV IL7R:NM_002185:exon4:c.G412A:p.V138I 0.67 0.93 0.56 0.48 0.7 0.54 0.6519 0.8770 0.4982 0.4741 0.7403 0.6804 0.6799 0.5588 0.75 0.87 0.68 0.76 0.79 rs1494555 COSM149814 1(stomach);18(soft_tissue);1(pancreas);1(thyroid);2(large_intestine) Pathogenic|Benign|Benign Severe_combined_immunodeficiency\x2c_autosomal_recessive\x2c_T_cell-negative\x2c_B_cell-positive\x2c_NK_cell-positive|not_specified|Severe_Combined_Immune_Deficiency RCV000015965.26|RCV000121214.2|RCV000397982.1 MedGen:OMIM|MedGen|MedGen C1837028:608971|CN169374|CN239264 . . . . . . 0.664 0.046 T 0.0 0.026 B 0.0 0.013 B 0.488 0.121 N 1 0.090 P . . . -1.12 0.776 T -0.77 0.214 N 0.059 0.043 -0.974 0.363 T 0.000 0.000 T . . . -0.630 0.048 0.106 0.283 0.014 0.003 0.015 N c -1.365 -1.402 0.956 0.282 0.615 0.372 0 -1.61 0.079 0.106 0.151 -1.534 0.010 0.000 0.063 0.008 0.104 11.700 0.506 Fibronectin type III|Immunoglobulin-like fold ENSG00000168685.10 Testis 0.6398 0.8759 0.4953 0.6339 0.4741 0.7396 0.6791 0.6768 0.5531 0.7252 0.8671 0.5530 0.6689 0.4719 0.7443 0.6789 0.6797 hom 2934.14 99 5 35871190 . G A 2934.14 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6493;MQ=59.20;MQ0=0;QD=29.64;VQSLOD=9.1223;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2967,232,0 5 35871273 35871273 C T exonic IL7R synonymous SNV IL7R:NM_002185:exon4:c.C495T:p.H165H 0.13 0.13 0.17 0.15 0.14 0.062 0.1268 0.1273 0.1564 0.1540 0.1051 0.1358 0.1067 0.0651 0.14 0.12 0.14 0.087 0.066 rs2228141 COSM3761218 7(soft_tissue);1(large_intestine) Benign|Likely benign not_specified|Severe_Combined_Immune_Deficiency RCV000125412.1|RCV000273504.1 MedGen|MedGen CN169374|CN239264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1265 0.1272 0.1531 0.1194 0.1527 0.0995 0.1380 0.1347 0.0611 0.1268 0.1249 0.1531 0.1490 0.1518 0.1143 0.1270 0.1141 het 845.85 64 5 35871273 . C T 845.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.379;DP=64;Dels=0.00;FS=7.592;HRun=0;HaplotypeScore=4.6421;MQ=58.83;MQ0=0;MQRankSum=-0.591;QD=13.22;ReadPosRankSum=-0.605;VQSLOD=4.7106;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,33:64:99:876,0,724 5 35874575 35874575 C T exonic IL7R nonsynonymous SNV IL7R:NM_002185:exon6:c.C731T:p.T244I 0.17 0.066 0.18 0.17 0.27 0.21 0.2327 0.1016 0.1834 0.1727 0.3378 0.2640 0.2665 0.2109 0.21 0.11 0.27 0.14 0.34 rs6897932 COSM132904 2(haematopoietic_and_lymphoid_tissue);1(stomach);5(soft_tissue);1(pancreas);4(large_intestine) Benign|Benign not_specified|Severe_Combined_Immune_Deficiency RCV000121219.2|RCV000267316.1 MedGen|MedGen CN169374|CN239264 Type 1 diabetes 1.12 . 17554260 rs6897932 8E-6 0.522 0.072 T 0.0 0.026 B 0.001 0.040 B 0.188 0.032 N 1 0.090 P 0.46 0.130 N -3.91 0.961 D -0.15 0.093 N 0.073 0.062 -0.806 0.548 T 0.000 0.000 T . . . -0.235 0.073 0.925 0.714 0.093 0.011 0.040 N c -1.091 -1.060 0.996 0.343 0.615 0.372 0 -2.49 0.060 -0.430 0.070 0.023 0.146 0.000 0.063 0.543 0.278 7.369 0.258 . ENSG00000164187.6 Lung 0.2329 0.1006 0.1782 0.2196 0.1706 0.3359 0.2631 0.2532 0.2101 0.2188 0.0963 0.1802 0.2781 0.1460 0.3400 0.2687 0.25 het 1875.16 159 5 35874575 . C T 1875.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.871;DP=159;Dels=0.00;FS=1.990;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=0.298;QD=11.79;ReadPosRankSum=1.917;VQSLOD=6.0063;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,75:159:99:1905,0,2081 5 35910529 35910529 C T exonic CAPSL nonsynonymous SNV CAPSL:NM_001042625:exon3:c.G254A:p.R85Q,CAPSL:NM_144647:exon3:c.G254A:p.R85Q 0.53 0.23 0.59 0.76 0.45 0.71 0.5051 0.2649 0.7029 0.7438 0.4923 0.4404 0.5209 0.6588 0.39 0.28 0.44 0.43 0.44 rs1445898 . . . . . . . Type 1 diabetes 1.12 . 17554260 rs1445898 8E-6 0.475 0.083 T 0.001 0.067 B 0.001 0.040 B 0.114 0.193 N 1 0.090 P 0.55 0.145 N -0.67 0.725 T 0.83 0.018 N 0.008 0.007 -0.977 0.357 T 0.000 0.000 T . . . 0.624 0.154 8.320 0.814 0.132 0.041 0.094 N c -1.184 -1.118 0.990 0.318 0.487 0.133 0 0.531 0.162 -0.981 0.038 -1.555 0.009 0.000 0.063 0.837 0.349 6.870 0.231 EF-hand domain|EF-hand domain pair . . 0.5154 0.2633 0.6856 0.4318 0.7452 0.4903 0.4369 0.4967 0.6590 0.4259 0.2693 0.6160 0.4901 0.7333 0.4928 0.4520 0.4918 het 863.76 69 5 35910529 . C T 863.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DP=69;Dels=0.00;FS=0.908;HRun=0;HaplotypeScore=1.7608;MQ=59.67;MQ0=0;MQRankSum=0.499;QD=12.52;ReadPosRankSum=0.487;VQSLOD=6.8282;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,33:69:99:894,0,979 5 35965970 35965970 A C exonic UGT3A1 nonsynonymous SNV UGT3A1:NM_152404:exon4:c.T361G:p.C121G,UGT3A1:NM_001171873:exon5:c.T199G:p.C67G 0.21 0.017 0.22 0.38 0.14 0.37 0.1941 0.0389 0.2395 0.4059 0.1302 0.1470 0.1811 0.3542 0.1 0.036 0.14 0.22 0.098 rs3756669 COSM3761220;COSM3761219 5(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.009 0.412 P 3.275 0.903 M -1.23 0.789 T -9.29 0.984 D 0.298 0.397 -1.230 0.000 T 0.000 0.000 T . . . 3.893 0.525 23.5 0.971 0.318 0.176 0.197 N c 0.131 -0.146 0.996 0.346 0.554 0.246 0 3.0 0.336 1.525 0.353 0.898 0.412 0.003 0.159 0.003 0.074 10.794 0.455 . . . 0.1916 0.0353 0.2394 0.1465 0.4071 0.1252 0.1449 0.1595 0.3381 0.1312 0.0392 0.2184 0.1060 0.4115 0.1302 0.1475 0.1762 het 898.21 82 5 35965970 . A C 898.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.391;DP=82;Dels=0.00;FS=1.902;HRun=1;HaplotypeScore=0.0000;MQ=58.26;MQ0=0;MQRankSum=0.769;QD=10.95;ReadPosRankSum=0.309;VQSLOD=5.6547;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,35:82:99:928,0,1087 5 36269551 36269551 G C exonic RANBP3L nonsynonymous SNV RANBP3L:NM_001161429:exon4:c.C209G:p.T70R,RANBP3L:NM_001323273:exon4:c.C209G:p.T70R,RANBP3L:NM_001323274:exon4:c.C209G:p.T70R,RANBP3L:NM_001323277:exon4:c.C209G:p.T70R,RANBP3L:NM_001323279:exon4:c.C209G:p.T70R,RANBP3L:NM_145000:exon4:c.C209G:p.T70R 0.81 0.65 0.83 0.71 0.96 0.94 0.9060 0.6990 0.7945 0.6907 0.9785 0.9706 0.9251 0.9363 0.89 0.72 0.97 0.79 0.96 rs1035480 . . . . . . . . . . . . . 0.23 0.255 T 0.0 0.026 B 0.0 0.013 B 0.002 0.381 N 1.000 0.182 P -2.56 0.000 N 2.15 0.384 T 1.07 0.015 N 0.163 0.314 -0.971 0.370 T 0.000 0.000 T . . . 1.157 0.206 11.52 0.548 0.051 0.005 0.024 N c -0.844 -0.542 0.900 0.260 0.487 0.133 0 4.66 0.577 2.568 0.454 0.067 0.174 1.000 0.715 0.829 0.346 11.579 0.500 . . . 0.9074 0.6983 0.8099 0.9399 0.6965 0.9791 0.9722 0.9272 0.9343 0.8795 0.7120 0.8305 0.9238 0.7031 0.9757 0.9707 0.9470 hom 4214.30 137 5 36269551 . G C 4214.30 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5652;MQ=59.10;MQ0=0;QD=30.76;VQSLOD=8.0739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:137:99:4214,322,0 5 37036492 37036492 C T exonic NIPBL synonymous SNV NIPBL:NM_015384:exon33:c.C5874T:p.S1958S,NIPBL:NM_133433:exon33:c.C5874T:p.S1958S 0.17 0.03 0.12 0.3 0.17 0.27 0.2284 0.0740 0.2456 0.4095 0.2934 0.2178 0.2110 0.2574 0.1 0.047 0.13 0.065 0.016 rs61748200 . . Benign|Benign not_specified|Cornelia_de_Lange_Syndrome RCV000082497.7|RCV000330558.1 MedGen|MedGen CN169374|CN239271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1504 0.0360 0.0896 0.1785 0.2455 0.1671 0.1386 0.1370 0.2275 0.1398 0.0509 0.1417 0.1690 0.3480 0.1698 0.1634 0.1514 het 104.53 11 5 37036492 . C T 104.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.466;QD=9.50;ReadPosRankSum=0.143;VQSLOD=11.1652;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:135,0,143 5 37167274 37167274 C T exonic C5orf42 synonymous SNV C5orf42:NM_023073:exon35:c.G7275A:p.A2425A 0.0002 . . . 0.001 . 0.0004 9.634e-05 0 0 0 0.0006 0 0.0001 0.0002 . 0.0003 . . rs137899908 . . Likely benign not_specified RCV000250589.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0001 0 0 0 0 0.0006 0.0002 0.0002 0.0002 0 0 0 0 0 0.0003 0 het 762.04 80 5 37167274 . C T 762.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.876;DP=80;Dels=0.00;FS=3.367;HRun=0;HaplotypeScore=1.8625;MQ=59.24;MQ0=0;MQRankSum=0.701;QD=9.53;ReadPosRankSum=-1.353;VQSLOD=4.3779;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,31:80:99:792,0,1258 5 37333727 37333727 A G exonic NUP155 synonymous SNV NUP155:NM_001278312:exon13:c.T1356C:p.A452A,NUP155:NM_004298:exon13:c.T1179C:p.A393A,NUP155:NM_153485:exon13:c.T1356C:p.A452A 0.35 0.85 0.22 0.12 0.15 0.22 0.2343 0.7619 0.2341 0.1224 0.2121 0.1704 0.2209 0.2204 0.35 0.73 0.16 0.38 0.2 rs150594 COSM4003519 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2175 0.7664 0.2306 0.1817 0.1146 0.2062 0.1620 0.1998 0.2121 0.3383 0.7576 0.2302 0.1788 0.1225 0.1943 0.1693 0.2082 het 452.48 53 5 37333727 . A G 452.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.790;DP=53;Dels=0.00;FS=2.728;HRun=1;HaplotypeScore=2.4534;MQ=58.73;MQ0=0;MQRankSum=-0.306;QD=8.54;ReadPosRankSum=-0.362;VQSLOD=5.7928;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,19:53:99:482,0,915 5 37364443 37364443 C T exonic NUP155 synonymous SNV NUP155:NM_001278312:exon2:c.G201A:p.L67L,NUP155:NM_004298:exon2:c.G24A:p.L8L,NUP155:NM_153485:exon2:c.G201A:p.L67L 0.97 0.89 1. 1. 1. 1. 0.9905 0.8955 0.9950 1 1 1.0000 0.9967 0.9999 0.97 0.9 1. 0.94 1. rs217852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9927 0.8951 0.9950 0.9999 1 1 0.9999 0.9987 0.9996 0.9711 0.9000 0.9869 1 1 1 0.9999 0.9908 hom 2082.26 73 5 37364443 . C T 2082.26 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=28.52;VQSLOD=8.0771;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2115,169,0 5 38370537 38370537 T C exonic EGFLAM nonsynonymous SNV EGFLAM:NM_001205301:exon6:c.T685C:p.W229R,EGFLAM:NM_152403:exon6:c.T685C:p.W229R 0.26 0.44 0.14 0.18 0.2 0.24 0.2117 0.4073 0.1573 0.1816 0.1954 0.1953 0.2016 0.2148 0.26 0.4 0.19 0.28 0.19 rs1465567 COSM149818;COSM4383313 1(stomach);1(large_intestine) . . . . . . . . . . . 0.663 0.055 T 0.0 0.026 B 0.0 0.013 B 0.018 0.015 N 1 0.090 P -0.925 0.013 N 0.68 0.520 T 0.0 0.070 N 0.016 0.003 -0.977 0.356 T 0.000 0.000 T . . . 0.039 0.097 2.969 0.677 0.082 0.017 0.054 N c -1.415 -1.313 1.000 0.401 0.487 0.133 0 -2.02 0.069 -0.303 0.082 -1.484 0.011 0.000 0.063 0.088 0.184 5.516 0.161 Fibronectin type III|Immunoglobulin-like fold . . 0.2024 0.4088 0.1543 0.2198 0.1755 0.1876 0.1917 0.1959 0.2125 0.2424 0.3967 0.1623 0.1854 0.1772 0.1787 0.1830 0.1996 het 612.64 45 5 38370537 . T C 612.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.309;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9713;MQ=58.02;MQ0=0;MQRankSum=-1.321;QD=13.61;ReadPosRankSum=0.264;VQSLOD=4.4256;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,26:45:99:643,0,469 5 38486065 38486065 C T exonic LIFR nonsynonymous SNV LIFR:NM_001127671:exon17:c.G2353A:p.V785I,LIFR:NM_002310:exon17:c.G2353A:p.V785I 0.14 0.12 0.27 0.022 0.19 0.15 0.1909 0.1204 0.3176 0.0240 0.1981 0.2092 0.1289 0.1608 0.19 0.12 0.22 0.11 0.18 rs3110234 COSM5019427;COSM5019428 10(soft_tissue) Benign Stuve-Wiedemann_syndrome RCV000368247.1 MedGen:OMIM:Orphanet C0796176:601559:ORPHA3206 . . . . . . 0.373 0.114 T 0.451 0.342 B 0.097 0.288 B 0.024 0.263 N 0.961 0.261 P 1.4 0.355 L 0.45 0.565 T -0.17 0.096 N 0.033 0.030 -1.018 0.243 T 0.000 0.000 T . . . 2.442 0.355 19.09 0.967 0.303 0.627 0.316 D c -0.236 -0.129 0.982 0.303 0.651 0.465 0 3.61 0.403 0.395 0.204 0.023 0.146 0.988 0.363 0.970 0.461 8.535 0.323 Fibronectin type III|Immunoglobulin-like fold ENSG00000244968.2 Testis 0.1931 0.1165 0.2963 0.1285 0.0226 0.1949 0.2140 0.1833 0.1592 0.1740 0.125 0.2667 0.1225 0.0210 0.1989 0.2065 0.2159 het 829.20 79 5 38486065 . C T 829.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.751;DP=79;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.8886;MQ=58.94;MQ0=0;MQRankSum=0.917;QD=10.50;ReadPosRankSum=0.817;VQSLOD=6.4478;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,36:79:99:859,0,1121 5 38950776 38950776 G A exonic RICTOR synonymous SNV RICTOR:NM_001285439:exon31:c.C3174T:p.S1058S,RICTOR:NM_001285440:exon31:c.C2319T:p.S773S,RICTOR:NM_152756:exon31:c.C3174T:p.S1058S 0.95 0.91 0.97 0.99 0.99 0.91 0.9658 0.9054 0.9711 0.9920 0.9924 0.9805 0.9746 0.9157 0.95 0.9 0.98 0.91 0.98 rs2115949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9688 0.9030 0.9745 0.9893 0.9917 0.9920 0.9804 0.9774 0.9156 0.9624 0.9120 0.9665 0.9834 0.9926 0.9914 0.9802 0.9755 hom 1979.12 70 5 38950776 . G A 1979.12 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.06;MQ0=0;QD=28.27;VQSLOD=8.4097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2012,162,0 5 40852451 40852451 C G exonic CARD6 synonymous SNV CARD6:NM_032587:exon3:c.C1017G:p.T339T 1. 1. 1. 0.99 1. 1. 0.9995 0.9999 1 0.9933 1 1 1 0.9999 . . . 1. 0.98 rs188934 COSM4594670 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9997 1 1 0.9942 1 1.0000 0.9998 1.0000 0.9995 0.9998 1 1 0.9926 1 0.9999 1 hom 1595.45 51 5 40852451 . C G 1595.45 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.06;MQ0=0;QD=31.28;VQSLOD=8.3521;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1628,132,0 5 40955561 40955561 G C exonic C7 nonsynonymous SNV C7:NM_000587:exon10:c.G1166C:p.S389T 0.48 0.3 0.53 0.52 0.59 0.53 0.5700 0.3275 0.5765 0.5720 0.6390 0.6052 0.6069 0.5365 0.53 0.34 0.61 0.54 . rs1063499 COSM3761227;COSM5830136 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.067 0.359 T 0.939 0.507 P 0.666 0.512 P 0.047 0.233 N 1.000 0.194 P 2.785 0.815 M -0.1 0.643 T -1.93 0.448 N 0.071 0.120 -0.903 0.477 T 0.000 0.000 T . . . 3.833 0.517 23.4 0.991 0.528 0.623 0.315 D c 0.043 -0.101 0.006 0.110 0.487 0.133 0 1.41 0.214 1.416 0.341 -0.282 0.084 0.787 0.293 0.008 0.104 7.182 0.248 Membrane attack complex component/perforin (MACPF) domain . . 0.5752 0.3198 0.5856 0.6648 0.5689 0.6404 0.5977 0.5904 0.5343 0.5283 0.3368 0.5538 0.6324 0.5675 0.6567 0.5981 0.5857 het 2110.01 181 5 40955561 . G C 2110.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.126;DP=181;Dels=0.00;FS=4.349;HRun=0;HaplotypeScore=6.9293;MQ=58.80;MQ0=0;MQRankSum=0.415;QD=11.66;ReadPosRankSum=0.080;VQSLOD=4.9413;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,83:181:99:2140,0,2582 5 40998196 40998196 T C exonic MROH2B synonymous SNV MROH2B:NM_173489:exon42:c.A4716G:p.Q1572Q 0.62 0.6 0.59 0.73 0.65 0.55 0.6354 0.6093 0.5806 0.7001 0.7210 0.6550 0.6370 0.5423 0.65 0.62 0.66 0.61 . rs704040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6347 0.6097 0.5858 0.6006 0.6991 0.7173 0.6555 0.6386 0.5382 0.6588 0.6163 0.6029 0.6026 0.6788 0.7211 0.6710 0.6592 hom 7840.11 250 5 40998196 . T C 7840.11 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5267;MQ=58.76;MQ0=0;QD=31.36;VQSLOD=6.1234;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7839,617,0 5 40998235 40998235 C T exonic MROH2B synonymous SNV MROH2B:NM_173489:exon42:c.G4677A:p.P1559P 0.33 0.29 0.36 0.3 0.39 0.3 0.3737 0.3077 0.3800 0.2987 0.4646 0.3970 0.3931 0.3164 0.37 0.31 0.4 0.35 . rs722575 COSM149820 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3758 0.3055 0.3830 0.3148 0.2979 0.4688 0.4003 0.3703 0.3106 0.3827 0.3070 0.3993 0.3113 0.2789 0.4662 0.4187 0.3855 hom 6888.19 213 5 40998235 . C T 6888.19 Mask AC=2;AF=1.00;AN=2;DP=213;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9678;MQ=59.23;MQ0=0;QD=32.34;VQSLOD=9.1581;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,213:213:99:6887,554,0 5 41000343 41000343 G A exonic MROH2B synonymous SNV MROH2B:NM_173489:exon39:c.C4461T:p.Y1487Y 0.64 0.6 0.63 0.71 0.68 0.56 0.6620 0.6198 0.6053 0.6861 0.7391 0.6948 0.6704 0.5500 0.68 0.63 0.7 0.62 . rs1001420 COSM149821 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6607 0.6183 0.6092 0.6605 0.6830 0.7355 0.6945 0.6721 0.5471 0.6827 0.6251 0.6307 0.6556 0.6617 0.7403 0.7086 0.6810 hom 2910.02 110 5 41000343 . G A 2910.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.481;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.1567;MQ=58.78;MQ0=0;MQRankSum=-0.682;QD=26.45;ReadPosRankSum=0.615;VQSLOD=7.4816;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,108:110:99:2943,190,0 5 41008780 41008780 A G exonic MROH2B nonsynonymous SNV MROH2B:NM_173489:exon33:c.T3536C:p.L1179P 0.78 0.87 0.83 0.59 0.81 0.79 0.8028 0.8759 0.8461 0.6166 0.7759 0.8121 0.7929 0.7999 0.84 0.88 0.82 0.86 . rs2271704 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.113 0.193 N 0.501 0.323 P -2.67 0.000 N 4.93 0.014 T 5.19 0.000 N 0.199 0.244 -1.034 0.190 T 0.000 0.000 T . . . 1.720 0.268 14.52 0.067 0.000 0.016 0.052 N c -0.888 -0.651 0.150 0.174 0.500 0.196 0 4.18 0.483 1.823 0.385 0.138 0.222 0.993 0.376 0.039 0.156 7.49 0.265 . . . 0.8041 0.8752 0.8441 0.7881 0.6185 0.7765 0.8202 0.7933 0.7979 0.8185 0.8683 0.8600 0.7848 0.6309 0.7755 0.8193 0.8006 het 801.25 89 5 41008780 . A G 801.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.740;DP=89;Dels=0.00;FS=3.125;HRun=1;HaplotypeScore=3.1324;MQ=59.74;MQ0=0;MQRankSum=1.081;QD=9.00;ReadPosRankSum=-0.022;VQSLOD=5.7954;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,30:89:99:831,0,1752 5 41042204 41042204 T A exonic MROH2B nonsynonymous SNV MROH2B:NM_173489:exon19:c.A1943T:p.D648V 0.088 0.089 0.11 0.21 0.019 0.017 0.1016 0.1632 0.3159 0.3281 0.1008 0.0429 0.0874 0.0322 0.043 0.099 0.018 0.054 . rs16870720 COSM3761230 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.435 0.538 T 0.835 0.443 P 0.531 0.468 P 0.016 0.281 N 0.462 0.320 P 2.08 0.576 M 4.93 0.014 T -0.86 0.334 N 0.562 0.596 -0.502 0.686 T 0.000 0.000 T . . . 4.041 0.543 23.7 0.713 0.093 0.745 0.361 D c 0.108 0.147 0.779 0.238 0.487 0.133 0 5.79 0.917 3.644 0.539 1.011 0.635 0.870 0.305 0.926 0.400 12.522 0.552 Armadillo-type fold . . 0.0573 0.1022 0.1267 0.0068 0.2154 0.0587 0.0165 0.0398 0.0263 0.0616 0.1015 0.1089 0.0099 0.2270 0.0639 0.0198 0.0418 het 63.18 11 5 41042204 . T A 63.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;MQRankSum=0.597;QD=5.74;ReadPosRankSum=-1.769;VQSLOD=4.4308;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,4:11:93.17:93,0,145 5 41049389 41049389 T C exonic MROH2B synonymous SNV MROH2B:NM_173489:exon14:c.A1494G:p.T498T 0.81 0.8 0.83 0.68 0.89 0.85 0.8485 0.8134 0.7749 0.6644 0.8339 0.8919 0.8613 0.8464 0.87 0.81 0.89 0.76 . rs325863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8460 0.8120 0.7839 0.9121 0.6617 0.8347 0.8933 0.8709 0.8451 0.8447 0.8107 0.8062 0.9272 0.6563 0.8315 0.8878 0.8476 het 622.31 70 5 41049389 . T C 622.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.392;DP=70;Dels=0.00;FS=3.733;HRun=2;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=-1.825;QD=8.89;ReadPosRankSum=0.340;VQSLOD=4.9391;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,24:70:99:652,0,1253 5 41049397 41049397 C T exonic MROH2B nonsynonymous SNV MROH2B:NM_173489:exon14:c.G1486A:p.V496I 0.81 0.8 0.83 0.68 0.89 0.85 0.8485 0.8134 0.7746 0.6640 0.8341 0.8919 0.8594 0.8462 0.87 0.82 0.89 0.76 . rs325864 . . . . . . . . . . . . . 0.435 0.094 T 0.0 0.026 B 0.001 0.040 B 0.378 0.134 N 1.000 0.186 P -1.12 0.009 N 3.15 0.078 T -0.31 0.121 N 0.038 0.018 -1.087 0.059 T 0.000 0.000 T . . . 1.235 0.214 11.93 0.673 0.081 0.001 0.009 N c -1.212 -1.077 0.001 0.077 0.487 0.133 0 -1.98 0.070 -1.765 0.019 -0.208 0.100 0.169 0.237 0.998 0.697 5.380 0.154 . . . 0.8460 0.8118 0.7841 0.9120 0.6618 0.8346 0.8934 0.8708 0.8449 0.8448 0.8107 0.8055 0.9272 0.6586 0.8315 0.8878 0.8473 het 721.19 70 5 41049397 . C T 721.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.768;DP=70;Dels=0.00;FS=3.635;HRun=0;HaplotypeScore=0.9993;MQ=58.80;MQ0=0;MQRankSum=-1.051;QD=10.30;ReadPosRankSum=-0.719;VQSLOD=4.8284;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,27:70:99:751,0,1072 5 41049410 41049410 C T exonic MROH2B synonymous SNV MROH2B:NM_173489:exon14:c.G1473A:p.S491S 0.049 0.087 0.033 0.001 0.053 0.052 0.0434 0.0726 0.0239 0.0008 0.0202 0.0468 0.0380 0.0574 0.058 0.079 0.048 0.054 . rs116584060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0415 0.0691 0.0269 0.0496 0.0006 0.0212 0.0471 0.0489 0.0573 0.0444 0.0687 0.0215 0.0467 0 0.0221 0.0419 0.0387 het 613.48 70 5 41049410 . C T 613.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.188;DP=70;Dels=0.00;FS=3.515;HRun=1;HaplotypeScore=2.6309;MQ=58.80;MQ0=0;MQRankSum=-1.313;QD=8.76;ReadPosRankSum=1.088;VQSLOD=4.5611;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,23:70:99:643,0,1244 5 41061716 41061716 A G exonic MROH2B nonsynonymous SNV MROH2B:NM_173489:exon6:c.T571C:p.W191R 0.78 0.81 0.76 0.66 0.85 0.83 0.8166 0.8155 0.6867 0.6536 0.8106 0.8586 0.8185 0.8257 0.85 0.81 0.86 0.5 . rs865093 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.016 0.281 N 1.000 0.197 P -2.425 0.001 N 3.6 0.045 T 4.03 0.001 N 0.068 0.055 -0.983 0.343 T 0.000 0.000 T . . . 0.876 0.178 9.925 0.814 0.132 0.039 0.092 N c -0.730 -0.413 0.003 0.097 0.487 0.133 0 3.94 0.446 1.485 0.349 0.138 0.222 0.977 0.347 0.992 0.562 5.056 0.138 Armadillo-like helical . . 0.8126 0.8158 0.6991 0.9042 0.6522 0.8102 0.8590 0.8315 0.8256 0.8241 0.8153 0.7315 0.9172 0.6509 0.8049 0.8557 0.8228 het 2743.53 201 5 41061716 . A G 2743.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.964;DP=201;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5368;MQ=58.97;MQ0=0;MQRankSum=-0.925;QD=13.65;ReadPosRankSum=0.473;VQSLOD=5.9350;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,107:201:99:2774,0,2458 5 41158863 41158863 G A exonic C6 synonymous SNV C6:NM_000065:exon13:c.C1881T:p.D627D,C6:NM_001115131:exon13:c.C1881T:p.D627D 1. 1. 1. 0.99 1. 1. 0.9996 1 1 0.9937 1 1 1 1 . . . 0.99 1. rs6866352 COSM4594733 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 1 1 1 0.9945 1 1 0.9996 1 0.9996 1 1 1 0.9932 1 1 1 hom 2277.53 77 5 41158863 . G A 2277.53 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;QD=29.58;VQSLOD=8.4070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2311,178,0 5 41186220 41186220 T G exonic C6 synonymous SNV C6:NM_000065:exon6:c.A678C:p.T226T,C6:NM_001115131:exon6:c.A678C:p.T226T 0.042 0.068 0.03 0.001 0.058 0.042 0.0400 0.0580 0.0220 0.0001 0.0358 0.0430 0.0385 0.0513 0.051 0.065 0.044 0.054 0.0082 rs61733159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0393 0.0554 0.0257 0.0577 0.0002 0.0386 0.0421 0.0471 0.0514 0.0402 0.0553 0.0227 0.0530 0 0.0295 0.0388 0.0428 het 1099.39 93 5 41186220 . T G 1099.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.167;DP=93;Dels=0.00;FS=1.694;HRun=1;HaplotypeScore=2.9039;MQ=59.30;MQ0=0;MQRankSum=1.235;QD=11.82;ReadPosRankSum=0.496;VQSLOD=6.2329;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,44:93:99:1129,0,1290 5 41199959 41199959 G T exonic C6 nonsynonymous SNV C6:NM_000065:exon4:c.C356A:p.A119E,C6:NM_001115131:exon4:c.C356A:p.A119E 0.55 0.55 0.55 0.44 0.65 0.58 0.5936 0.5529 0.5306 0.4329 0.6063 0.6273 0.5804 0.6065 0.61 0.56 0.63 0.53 0.57 rs1801033 COSM4159876 1(thyroid) Benign not_specified RCV000455652.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.195 P -2.15 0.001 N 2.28 0.173 T 0.33 0.039 N 0.073 0.356 -1.009 0.273 T 0.000 0.000 T . . . 0.944 0.184 10.34 0.304 0.017 0.107 0.159 N c -0.669 -0.402 0.088 0.161 0.487 0.133 0 6.02 0.975 2.675 0.463 0.152 0.238 0.992 0.373 0.991 0.552 12.774 0.566 . . . 0.5935 0.5560 0.5394 0.5850 0.4304 0.6007 0.6356 0.6044 0.6054 0.5991 0.5689 0.5658 0.6026 0.4338 0.5834 0.6384 0.6202 het 843.39 76 5 41199959 . G T 843.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.220;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=-0.891;QD=11.10;ReadPosRankSum=0.147;VQSLOD=6.0061;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,33:76:99:873,0,1128 5 42700044 42700044 A G exonic GHR synonymous SNV GHR:NM_001242460:exon4:c.A492G:p.G164G,GHR:NM_001242406:exon5:c.A558G:p.G186G,GHR:NM_001242462:exon5:c.A558G:p.G186G,GHR:NM_000163:exon6:c.A558G:p.G186G,GHR:NM_001242399:exon6:c.A579G:p.G193G,GHR:NM_001242402:exon6:c.A558G:p.G186G,GHR:NM_001242403:exon6:c.A558G:p.G186G,GHR:NM_001242404:exon6:c.A558G:p.G186G,GHR:NM_001242405:exon6:c.A558G:p.G186G,GHR:NM_001242400:exon7:c.A558G:p.G186G,GHR:NM_001242401:exon7:c.A558G:p.G186G 0.64 0.4 0.77 0.82 0.68 0.66 0.7122 0.4408 0.8285 0.8565 0.6932 0.7261 0.7097 0.6785 0.63 0.45 0.73 0.66 0.69 rs6179 . . Benign|Benign not_specified|Laron-type_isolated_somatotropin_defect RCV000179264.2|RCV000323565.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0271568:262500:ORPHA633:38196001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7176 0.4322 0.8113 0.6929 0.8500 0.6939 0.7274 0.7031 0.6758 0.6466 0.4455 0.7721 0.7013 0.8292 0.7012 0.7167 0.7388 het 1863.89 118 5 42700044 . A G 1863.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.419;DP=118;Dels=0.00;FS=0.849;HRun=2;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;MQRankSum=-1.027;QD=15.80;ReadPosRankSum=-0.155;VQSLOD=5.7422;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,68:118:99:1894,0,1407 5 42719239 42719239 A C exonic GHR nonsynonymous SNV GHR:NM_001242460:exon8:c.A1564C:p.I522L,GHR:NM_001242406:exon9:c.A1630C:p.I544L,GHR:NM_000163:exon10:c.A1630C:p.I544L,GHR:NM_001242399:exon10:c.A1651C:p.I551L,GHR:NM_001242402:exon10:c.A1630C:p.I544L,GHR:NM_001242403:exon10:c.A1630C:p.I544L,GHR:NM_001242404:exon10:c.A1630C:p.I544L,GHR:NM_001242405:exon10:c.A1630C:p.I544L,GHR:NM_001242400:exon11:c.A1630C:p.I544L,GHR:NM_001242401:exon11:c.A1630C:p.I544L 0.44 0.38 0.4 0.57 0.42 0.46 0.4434 0.3888 0.3247 0.5955 0.3683 0.4533 0.4742 0.4694 0.44 0.39 0.46 0.4 0.39 rs6180 COSM3761233 1(large_intestine);1(central_nervous_system) other|Benign|Benign Familial_hypercholesterolemia|not_specified|Laron-type_isolated_somatotropin_defect RCV000009190.4|RCV000173652.2|RCV000392579.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C0020445:143890:397915002:398036000|CN169374|C0271568:262500:ORPHA633:38196001 . . . . . . 0.009 0.574 D 0.933 0.501 P 0.897 0.619 P 0.074 0.213 N 1.000 0.203 P 3.415 0.920 M 1.3 0.356 T -1.16 0.297 N 0.285 0.345 -0.908 0.471 T 0.000 0.000 T . . . 2.552 0.368 19.80 0.984 0.407 0.551 0.295 D c 0.507 0.397 1.000 0.500 0.554 0.246 0 3.43 0.382 1.579 0.359 1.140 0.893 0.992 0.373 0.943 0.417 5.415 0.156 Growth hormone-binding protein . . 0.4356 0.3844 0.3247 0.4307 0.5996 0.3711 0.4548 0.4532 0.4653 0.4260 0.3929 0.3266 0.4702 0.5881 0.3571 0.4486 0.4267 het 1007.53 78 5 42719239 . A C 1007.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.763;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7333;MQ=58.68;MQ0=0;MQRankSum=-1.141;QD=12.92;ReadPosRankSum=-1.071;VQSLOD=5.6028;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,37:78:99:1038,0,1011 5 42801268 42801268 C T exonic SELENOP unknown UNKNOWN 0.17 0.27 0.15 0.002 0.29 0.12 0.2019 0.2669 0.1189 0.0006 0.2874 0.2412 0.2328 0.1316 0.24 0.25 0.23 0.21 0.21 rs3877899 COSM4159877 1(thyroid) . . . . . . . . . . . 0.821 0.038 T . . . . . . 0.048 0.020 N 1.000 0.090 P 0.345 0.112 N 1.57 0.293 T -0.13 0.105 N 0.04 0.196 -1.010 0.268 T 0.000 0.000 T . . . 3.286 0.454 22.8 0.832 0.141 0.143 0.181 N c -0.791 -0.829 0.968 0.290 0.706 0.609 0 0.615 0.167 -0.840 0.044 0.049 0.161 0.000 0.063 0.003 0.074 9.637 0.388 Selenoprotein P\x2c N-terminal ENSG00000198865.5|ENSG00000198865.5 Artery_Aorta|Artery_Tibial 0.2014 0.2719 0.1335 0.2655 0.0003 0.2875 0.2386 0.2366 0.1318 0.2395 0.2625 0.1579 0.2483 0.0006 0.2790 0.2496 0.2037 het 1562.93 124 5 42801268 . C T 1562.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.391;DP=124;Dels=0.00;FS=11.376;HRun=0;HaplotypeScore=6.2591;MQ=59.51;MQ0=0;MQRankSum=1.640;QD=12.60;ReadPosRankSum=-0.654;VQSLOD=3.9719;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,67:124:99:1593,0,1474 5 43039793 43039793 T C exonic ANXA2R nonsynonymous SNV ANXA2R:NM_001014279:exon1:c.A356G:p.Q119R 0.18 0.12 0.35 0.0089 0.33 0.18 0.2673 0.15 0.3391 0.0061 0.2125 0.3236 0.2841 0.2206 0.27 0.15 0.33 0.14 0.31 rs1054428 COSM3761234 1(large_intestine) . . . . . . . . . . . 0.105 0.298 T 0.994 0.647 D 0.81 0.568 P . . . 1 0.090 P 0.695 0.181 N 1.47 0.320 T -1.64 0.393 N 0.047 0.030 -1.097 0.044 T 0.000 0.000 T . . . -1.567 0.015 0.002 0.602 0.062 0.010 0.039 N c -1.043 -1.345 1.0 0.983 0.623 0.393 0 -6.01 0.020 -0.537 0.062 -1.083 0.019 0.000 0.063 0.000 0.016 1.570 0.024 . ENSG00000172262.7|ENSG00000172262.7 Adipose_Subcutaneous|Artery_Tibial 0.2683 0.1467 0.3314 0.3293 0.0060 0.2111 0.3242 0.3063 0.2195 0.2436 0.1510 0.3389 0.3444 0.0062 0.2138 0.3199 0.2857 het 1975.26 165 5 43039793 . T C 1975.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.145;DP=165;Dels=0.00;FS=7.035;HRun=1;HaplotypeScore=5.8751;MQ=59.19;MQ0=0;MQRankSum=1.387;QD=11.97;ReadPosRankSum=0.015;VQSLOD=4.7458;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,77:165:99:2005,0,2573 5 43175103 43175103 C T exonic ZNF131 synonymous SNV ZNF131:NM_001330705:exon6:c.C903T:p.S301S,ZNF131:NM_001330710:exon6:c.C903T:p.S301S,ZNF131:NM_001297548:exon7:c.C1740T:p.S580S,ZNF131:NM_001330707:exon7:c.C1740T:p.S580S,ZNF131:NM_001330708:exon7:c.C1740T:p.S580S,ZNF131:NM_001330709:exon7:c.C903T:p.S301S,ZNF131:NM_001330712:exon7:c.C1740T:p.S580S,ZNF131:NM_001330714:exon7:c.C1740T:p.S580S,ZNF131:NM_001330704:exon8:c.C903T:p.S301S,ZNF131:NM_001330706:exon8:c.C1638T:p.S546S,ZNF131:NM_001330711:exon8:c.C1638T:p.S546S,ZNF131:NM_001330713:exon8:c.C1638T:p.S546S,ZNF131:NM_001330715:exon8:c.C1638T:p.S546S,ZNF131:NM_001330716:exon8:c.C1551T:p.S517S,ZNF131:NM_001330717:exon8:c.C1401T:p.S467S,ZNF131:NM_003432:exon8:c.C1638T:p.S546S 0.12 0.046 0.082 0.21 0.12 0.14 0.1141 0.0505 0.0987 0.1900 0.0445 0.1225 0.1289 0.1162 0.099 0.047 0.12 0.054 0.09 rs35397154 COSM4003541;COSM4003540 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1122 0.0497 0.1006 0.1227 0.1937 0.0437 0.1227 0.1220 0.1171 0.0906 0.0506 0.0943 0.1424 0.1892 0.0432 0.1132 0.0886 het 2100.92 157 5 43175103 . C T 2100.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.590;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9973;MQ=59.76;MQ0=0;MQRankSum=-0.753;QD=13.38;ReadPosRankSum=-0.128;VQSLOD=6.3831;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,80:157:99:2131,0,2023 5 43245922 43245922 C T exonic NIM1K synonymous SNV NIM1K:NM_153361:exon2:c.C45T:p.H15H 0.29 0.29 0.26 0.14 0.43 0.3 0.3542 0.2817 0.2073 0.1419 0.4828 0.4132 0.4009 0.3207 0.38 0.29 0.42 0.3 0.36 rs13176855 COSM3761239 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3518 0.2837 0.2233 0.3817 0.1413 0.4811 0.4159 0.3744 0.3057 0.3711 0.2864 0.2446 0.4536 0.1315 0.4948 0.4214 0.3924 hom 6305.91 198 5 43245922 . C T 6305.91 Mask AC=2;AF=1.00;AN=2;DP=198;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.7139;MQ=59.30;MQ0=0;QD=31.85;VQSLOD=4.8898;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,198:198:99:6305,503,0 5 43492978 43492978 G A exonic C5orf34 synonymous SNV C5orf34:NM_198566:exon9:c.C1329T:p.N443N 0.99 0.98 1. 1. 1. 1. 0.9984 0.9822 0.9995 1 1 1.0000 1 0.9999 0.99 0.98 1. 1. 1. rs10039298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9823 0.9994 1 1 1 1.0000 0.9994 0.9999 0.9945 0.9810 0.9988 1 1 1 0.9999 0.9990 hom 3677.45 117 5 43492978 . G A 3677.45 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.16;MQ0=0;QD=31.43;VQSLOD=8.2448;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3677,289,0 5 43509348 43509348 T A exonic C5orf34 nonsynonymous SNV C5orf34:NM_198566:exon2:c.A94T:p.T32S 0.99 0.98 1. 1. 1. 1. 0.9984 0.9823 0.9995 1 1 1.0000 1 0.9999 0.99 0.98 1. 1. 1. rs6872851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9824 0.9994 1 1 1 1.0000 0.9995 0.9999 0.9945 0.9809 0.9988 1 1 1 0.9999 0.9990 hom 3339.47 104 5 43509348 . T A 3339.47 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7791;MQ=59.64;MQ0=0;QD=32.11;VQSLOD=8.3722;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3339,265,0 5 44809162 44809162 G C exonic MRPS30 nonsynonymous SNV MRPS30:NM_016640:exon1:c.G98C:p.C33S 0.4 0.25 0.46 0.54 0.37 0.45 0.4130 0.2804 0.4656 0.5489 0.3950 0.3861 0.4455 0.4732 0.33 0.27 0.37 0.36 0.3 rs3747479 . . . . . . . . . . . . . 0.779 0.033 T 0.0 0.026 B 0.002 0.063 B 0.018 0.015 N 1 0.090 P -1.39 0.006 N 2.35 0.162 T 0.17 0.051 N 0.009 0.001 -0.923 0.452 T 0.000 0.000 T . . . -1.488 0.017 0.003 0.488 0.040 0.053 0.110 N c -1.145 -1.138 1.000 0.747 0.442 0.072 0 -0.478 0.114 1.940 0.396 -0.247 0.091 0.018 0.193 0.001 0.043 4.966 0.134 . ENSG00000272335.1|ENSG00000272335.1|ENSG00000272335.1|ENSG00000251141.1|ENSG00000251141.1|ENSG00000272335.1|ENSG00000272335.1|ENSG00000272335.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Thyroid 0.4039 0.2553 0.4488 0.4013 0.5468 0.3741 0.3733 0.3997 0.4696 0.3597 0.2727 0.4341 0.3874 0.5456 0.3781 0.3800 0.3811 het 247.72 25 5 44809162 . G C 247.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.560;DP=25;Dels=0.00;FS=5.409;HRun=2;HaplotypeScore=0.0000;MQ=58.13;MQ0=0;MQRankSum=-0.465;QD=9.91;ReadPosRankSum=-0.575;VQSLOD=4.4969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,11:25:99:278,0,453 5 50057729 50057729 G A exonic PARP8 synonymous SNV PARP8:NM_001178056:exon6:c.G420A:p.G140G,PARP8:NM_001331028:exon6:c.G357A:p.G119G,PARP8:NM_024615:exon6:c.G420A:p.G140G,PARP8:NM_001178055:exon7:c.G420A:p.G140G 0.47 0.16 0.58 0.67 0.63 0.43 0.5754 0.2255 0.5905 0.6397 0.6790 0.6367 0.5795 0.4624 0.52 0.25 0.66 0.43 0.66 rs282547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5811 0.2084 0.5892 0.5581 0.6398 0.6783 0.6351 0.5862 0.4613 0.5303 0.2207 0.6022 0.6093 0.6479 0.6804 0.6514 0.6189 hom 2142.78 78 5 50057729 . G A 2142.78 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=58.90;MQ0=0;QD=27.47;VQSLOD=7.7015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2176,172,0 5 52096889 52096889 C A exonic PELO nonsynonymous SNV PELO:NM_015946:exon2:c.C661A:p.L221M 0.9 0.91 0.9 0.85 0.93 0.92 0.9074 0.8988 0.9059 0.8299 0.9357 0.9154 0.9194 0.9107 0.91 0.89 0.92 0.91 0.93 rs1499280 COSM4408640 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.09 0.236 B 0.136 0.317 B 0.001 0.437 N 0.000 0.810 P -0.05 0.049 N 0.73 0.507 T 1.18 0.011 N 0.065 0.051 -0.983 0.344 T 0.000 0.000 T . . . 0.800 0.170 9.461 0.914 0.201 0.226 0.216 N c -0.609 -0.354 1.000 0.747 0.442 0.072 0 5.25 0.731 2.879 0.480 0.242 0.267 1.000 0.715 1.000 0.888 11.210 0.478 eRF1 domain 2 ENSG00000152684.10|ENSG00000152684.10 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.9077 0.8943 0.9040 0.9167 0.8225 0.9364 0.9159 0.9137 0.9116 0.9053 0.8905 0.8962 0.8808 0.8127 0.9310 0.9185 0.9114 hom 3860.06 116 5 52096889 . C A 3860.06 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.80;MQ0=0;QD=33.28;VQSLOD=9.6687;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3860,313,0 5 52157374 52157374 T C exonic ITGA1 synonymous SNV ITGA1:NM_181501:exon3:c.T276C:p.C92C 0.76 0.84 0.71 0.6 0.83 0.79 0.7928 0.8478 0.6704 0.5755 0.8399 0.8313 0.8084 0.7827 0.84 0.85 0.84 0.75 0.85 rs2447867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7884 0.8535 0.6730 0.8543 0.5744 0.8450 0.8318 0.8074 0.7788 0.8225 0.8474 0.7134 0.8344 0.5627 0.8599 0.8340 0.8106 hom 2756.75 102 5 52157374 . T C 2756.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.471;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.63;MQ0=0;MQRankSum=2.401;QD=27.03;ReadPosRankSum=1.629;VQSLOD=5.7137;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,100:102:99:2790,190,0 5 52193287 52193287 C T exonic ITGA1 synonymous SNV ITGA1:NM_181501:exon10:c.C1092T:p.A364A 0.63 0.73 0.62 0.62 0.51 0.65 0.5547 0.7006 0.6476 0.6000 0.4458 0.5015 0.5498 0.6323 0.57 0.69 0.5 0.56 0.36 rs1531545 COSM149830 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5532 0.7013 0.6340 0.6087 0.5992 0.4481 0.4970 0.5537 0.6271 0.5606 0.6951 0.6271 0.5397 0.5984 0.4619 0.5003 0.5255 hom 1226.19 39 5 52193287 . C T 1226.19 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.32;MQ0=0;QD=31.44;VQSLOD=9.3536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1259,99,0 5 52201722 52201722 C T exonic ITGA1 nonsynonymous SNV ITGA1:NM_181501:exon12:c.C1439T:p.T480M 0.096 0.019 0.27 0.15 0.06 0.06 0.0900 0.0278 0.3592 0.1525 0.0593 0.0557 0.0738 0.0596 0.052 0.031 0.063 0.12 0.016 rs4145748 COSM149831 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);2(large_intestine) . . . . . . . . . . . 0.013 0.538 D 0.941 0.509 P 0.587 0.485 P 0.000 0.559 D 0.002 0.447 P 1.77 0.460 L 2.7 0.122 T -2.03 0.466 N 0.165 0.199 -1.085 0.064 T 0.000 0.000 T . . . 6.819 0.926 32 0.998 0.920 0.846 0.434 D c 0.503 0.541 0.988 0.313 0.638 0.428 0 5.77 0.910 1.880 0.390 0.935 0.490 0.983 0.354 0.971 0.463 15.830 0.784 . . . 0.1008 0.0235 0.3348 0.0857 0.1462 0.0596 0.0555 0.0918 0.0596 0.0589 0.0265 0.2667 0.0894 0.1389 0.0587 0.0565 0.0652 het 1814.67 167 5 52201722 . C T 1814.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.366;DP=167;DS;Dels=0.00;FS=0.654;HRun=0;HaplotypeScore=3.4232;MQ=59.03;MQ0=0;MQRankSum=1.547;QD=10.87;ReadPosRankSum=0.458;VQSLOD=6.2540;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,74:167:99:1845,0,2233 5 52214581 52214581 G A exonic ITGA1 nonsynonymous SNV ITGA1:NM_181501:exon16:c.G2008A:p.V670I 0.098 0.018 0.27 0.15 0.062 0.06 0.0909 0.0281 0.3596 0.1573 0.0594 0.0560 0.0757 0.0605 0.053 0.032 0.064 0.12 0.016 rs2279587 COSM149832 1(stomach);1(prostate);2(large_intestine) . . . . . . . . . . . 0.16 0.237 T 0.722 0.404 P 0.576 0.482 P 0.000 0.537 D 0.019 0.397 P 1.74 0.453 L 1.12 0.387 T -0.12 0.088 N 0.095 0.095 -1.086 0.061 T 0.000 0.001 T . . . 3.698 0.502 23.3 0.993 0.569 0.838 0.426 D c 0.289 0.378 0.934 0.271 0.615 0.372 0 5.51 0.817 2.402 0.439 1.048 0.713 1.000 0.715 1.000 0.888 13.053 0.582 Integrin alpha-2|Integrin domain . . 0.1001 0.0234 0.3325 0.0856 0.1515 0.0593 0.0555 0.0910 0.0579 0.0590 0.0264 0.2626 0.0927 0.1436 0.0587 0.0566 0.0645 het 524.33 49 5 52214581 . G A 524.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.593;DP=49;Dels=0.00;FS=1.202;HRun=1;HaplotypeScore=0.6651;MQ=58.76;MQ0=0;MQRankSum=-1.055;QD=10.70;ReadPosRankSum=-1.095;VQSLOD=5.7267;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,22:49:99:554,0,789 5 52229745 52229745 T G exonic ITGA1 nonsynonymous SNV ITGA1:NM_181501:exon23:c.T2883G:p.I961M 0.097 0.018 0.27 0.15 0.061 0.056 0.0901 0.0288 0.3583 0.1577 0.0587 0.0557 0.0791 0.0547 0.052 0.031 0.063 0.12 0.016 rs12520591 . . . . . . . . . . . . . 0.083 0.330 T 0.91 0.483 P 0.77 0.550 P 0.009 0.304 N 0.031 0.387 P 2.42 0.702 M 0.84 0.475 T -0.79 0.219 N 0.274 0.332 -1.091 0.054 T 0.000 0.001 T . . . 4.438 0.594 24.2 0.997 0.795 0.821 0.411 D c 0.389 0.440 0.983 0.305 0.554 0.246 0 5.77 0.910 2.507 0.449 1.059 0.766 1.000 0.715 0.996 0.625 12.482 0.550 Integrin alpha-2|Integrin domain . . 0.0930 0.0235 0.3392 0.0833 0.1438 0.0586 0.0537 0.0830 0.0524 0.0586 0.0264 0.2664 0.0927 0.1422 0.0564 0.0566 0.0606 het 531.68 38 5 52229745 . T G 531.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.464;DP=38;Dels=0.00;FS=1.310;HRun=0;HaplotypeScore=0.9933;MQ=57.26;MQ0=0;MQRankSum=0.000;QD=13.99;ReadPosRankSum=0.147;VQSLOD=4.4055;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,21:38:99:562,0,371 5 52347369 52347369 C T exonic ITGA2 synonymous SNV ITGA2:NM_002203:exon7:c.C759T:p.F253F 0.34 0.28 0.44 0.28 0.4 0.33 0.3822 0.2933 0.4568 0.3018 0.3983 0.3966 0.3929 0.3628 0.37 0.3 0.4 0.35 0.45 rs1126643 COSM4003552;COSM4003553 1(haematopoietic_and_lymphoid_tissue) Benign Platelet-type_bleeding_disorder_9 RCV000264523.1 MedGen:OMIM:Orphanet C3280114:614200:ORPHA98886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3863 0.2886 0.4564 0.3772 0.3024 0.3959 0.3969 0.3817 0.3637 0.3667 0.2909 0.4580 0.4040 0.2863 0.3989 0.4050 0.3822 het 1242.03 95 5 52347369 . C T 1242.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.196;DP=95;Dels=0.00;FS=0.805;HRun=2;HaplotypeScore=4.6295;MQ=57.57;MQ0=1;MQRankSum=0.875;QD=13.07;ReadPosRankSum=1.522;VQSLOD=4.6514;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,50:95:99:1272,0,979 5 52351413 52351413 G A exonic ITGA2 synonymous SNV ITGA2:NM_002203:exon8:c.G825A:p.T275T . . . . . . 0.3847 0.3143 0.4574 0.3012 0.3988 0.3979 0.3932 0.3629 0.37 0.33 0.4 0.36 0.45 rs1062535 COSM3749933;COSM3749934 1(breast);1(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign Platelet-type_bleeding_disorder_9 RCV000268212.1 MedGen:OMIM:Orphanet C3280114:614200:ORPHA98886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3885 0.3087 0.4574 0.3768 0.3017 0.3964 0.3987 0.3840 0.3638 0.3726 0.3118 0.4606 0.4040 0.2807 0.3980 0.4054 0.3857 het 2337.04 141 5 52351413 . G A 2337.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.926;DP=141;Dels=0.00;FS=1.749;HRun=3;HaplotypeScore=5.5902;MQ=57.80;MQ0=0;MQRankSum=0.304;QD=16.57;ReadPosRankSum=0.974;VQSLOD=4.2748;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,83:141:99:2367,0,1412 5 52379277 52379277 C T exonic ITGA2 synonymous SNV ITGA2:NM_002203:exon27:c.C3252T:p.F1084F 0.33 0.28 0.43 0.29 0.37 0.33 0.3631 0.2897 0.4420 0.3115 0.3960 0.3659 0.3742 0.3567 0.34 0.3 0.36 0.34 0.4 rs2303122 COSM3761251;COSM3761252 1(NS);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Platelet-type_bleeding_disorder_9 RCV000302029.1 MedGen:OMIM:Orphanet C3280114:614200:ORPHA98886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3682 0.2850 0.4446 0.3508 0.3110 0.3941 0.3656 0.3574 0.3565 0.3511 0.2873 0.4366 0.4007 0.2932 0.3903 0.3781 0.3724 het 952.45 81 5 52379277 . C T 952.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.848;DP=81;Dels=0.00;FS=3.617;HRun=3;HaplotypeScore=3.5250;MQ=59.14;MQ0=0;MQRankSum=0.752;QD=11.76;ReadPosRankSum=-1.154;VQSLOD=5.7967;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,38:81:99:982,0,977 5 52942083 52942083 A C exonic NDUFS4 synonymous SNV NDUFS4:NM_001318051:exon3:c.A198C:p.G66G,NDUFS4:NM_002495:exon3:c.A198C:p.G66G 0.94 0.97 0.97 0.87 0.96 0.94 0.9553 0.9754 0.9838 0.8517 0.9445 0.9644 0.9489 0.9434 0.97 0.98 0.97 0.95 0.84 rs31304 . . Likely benign|Benign|Benign not_specified|Mitochondrial_complex_I_deficiency|Leigh_syndrome RCV000117714.2|RCV000280222.1|RCV000342200.1 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1838979:252010|C0023264:256000:ORPHA506:29570005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9554 0.9769 0.9842 0.9467 0.8517 0.9444 0.9660 0.9507 0.9444 0.9594 0.9765 0.9845 0.9437 0.8461 0.9492 0.9626 0.9663 hom 1206.71 37 5 52942083 . A C 1206.71 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=32.61;VQSLOD=9.7385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1240,99,0 5 52942197 52942197 A G exonic NDUFS4 synonymous SNV NDUFS4:NM_001318051:exon3:c.A312G:p.R104R,NDUFS4:NM_002495:exon3:c.A312G:p.R104R 0.8 0.86 0.82 0.79 0.76 0.76 0.7734 0.8540 0.8022 0.7631 0.7512 0.7599 0.7808 0.7711 0.79 0.85 0.76 0.79 0.71 rs31303 COSM4159887 1(thyroid) Likely benign|Benign|Benign not_specified|Leigh_syndrome|Mitochondrial_complex_I_deficiency RCV000117715.2|RCV000302455.1|RCV000398452.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM CN169374|C0023264:256000:ORPHA506:29570005|C1838979:252010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7742 0.8574 0.8036 0.7394 0.7699 0.7522 0.7618 0.7686 0.7760 0.7860 0.8534 0.7864 0.7616 0.7665 0.7607 0.7564 0.7704 het 1838.31 125 5 52942197 . A G 1838.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.086;DP=125;Dels=0.00;FS=5.590;HRun=1;HaplotypeScore=2.8402;MQ=58.54;MQ0=0;MQRankSum=-0.481;QD=14.71;ReadPosRankSum=-0.386;VQSLOD=5.0168;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,71:125:99:1868,0,1371 5 53606295 53606295 T C exonic ARL15 synonymous SNV ARL15:NM_019087:exon1:c.A15G:p.R5R 0.83 0.94 0.8 0.72 0.84 0.79 0.8298 0.9304 0.7606 0.7206 0.8584 0.8443 0.8270 0.8051 0.87 0.93 0.84 0.87 . rs35941 COSM4159890 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8165 0.9330 0.7589 0.7569 0.7096 0.8503 0.8418 0.8119 0.7906 0.8638 0.9324 0.7890 0.7947 0.7261 0.8448 0.8496 0.8495 het 278.67 28 5 53606295 . T C 278.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.488;DP=28;Dels=0.00;FS=9.428;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.415;QD=9.95;ReadPosRankSum=-0.829;VQSLOD=4.1991;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:309,0,411 5 53751901 53751901 G A exonic HSPB3 synonymous SNV HSPB3:NM_006308:exon1:c.G282A:p.L94L 0.48 0.43 0.46 0.37 0.62 0.54 0.5543 0.4500 0.4561 0.3509 0.6080 0.6082 0.5969 0.5532 0.55 0.46 0.6 0.47 0.59 rs7699 COSM4416599 3(haematopoietic_and_lymphoid_tissue) Benign Distal_hereditary_motor_neuronopathy RCV000286420.1 MedGen CN169884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5525 0.4492 0.4588 0.6074 0.3524 0.6150 0.6065 0.5883 0.5539 0.5339 0.4379 0.4869 0.62 0.3568 0.6189 0.5873 0.5739 het 2494.50 227 5 53751901 . G A 2494.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.636;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7141;MQ=59.55;MQ0=0;MQRankSum=0.278;QD=10.99;ReadPosRankSum=1.439;VQSLOD=4.5646;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:126,101:227:99:2524,0,3556 5 53751988 53751988 T C exonic HSPB3 synonymous SNV HSPB3:NM_006308:exon1:c.T369C:p.G123G 0.58 0.76 0.49 0.38 0.64 0.55 0.5918 0.7391 0.4728 0.3566 0.6205 0.6222 0.6189 0.5698 0.66 0.73 0.62 0.63 0.61 rs7823 COSM1132147 4(haematopoietic_and_lymphoid_tissue);1(prostate) Benign Distal_hereditary_motor_neuronopathy RCV000347126.1 MedGen CN169884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5848 0.7412 0.4779 0.5980 0.3580 0.6275 0.6237 0.6074 0.5702 0.6279 0.7323 0.5084 0.6033 0.3590 0.6301 0.6044 0.6041 het 2317.03 188 5 53751988 . T C 2317.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.574;DP=188;Dels=0.00;FS=5.163;HRun=0;HaplotypeScore=2.7456;MQ=59.34;MQ0=0;MQRankSum=0.347;QD=12.32;ReadPosRankSum=-0.255;VQSLOD=5.8265;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,92:188:99:2347,0,2442 5 53814394 53814394 T C exonic SNX18 synonymous SNV SNX18:NM_001102575:exon1:c.T612C:p.G204G,SNX18:NM_001145427:exon1:c.T612C:p.G204G,SNX18:NM_052870:exon1:c.T612C:p.G204G 0.99 0.97 0.99 1. 0.99 0.99 0.9869 0.9737 0.9947 0.9980 0.9879 0.9859 0.9828 0.9851 0.98 0.98 0.98 0.76 0.3 rs2548614 COSM3749935;COSM3749936 2(thyroid);13(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9866 0.9746 0.9933 0.9983 0.9983 0.9872 0.9835 0.9889 0.9845 0.9830 0.9766 0.9916 1 0.9988 0.9894 0.9826 0.9827 hom 831.66 26 5 53814394 . T C 831.66 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.99;VQSLOD=13.1047;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:69.20:865,69,0 5 53815240 53815240 G C exonic SNX18 synonymous SNV SNX18:NM_001102575:exon1:c.G1458C:p.S486S,SNX18:NM_001145427:exon1:c.G1458C:p.S486S,SNX18:NM_052870:exon1:c.G1458C:p.S486S 0.32 0.24 0.35 0.48 0.23 0.35 0.2929 0.2427 0.4273 0.4641 0.2457 0.2540 0.2550 0.3187 0.24 0.23 0.25 0.25 0.2 rs61739378 COSM149834;COSM3761259 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2969 0.2465 0.4111 0.2160 0.4619 0.2384 0.2573 0.2753 0.3199 0.2757 0.2536 0.3732 0.2053 0.4596 0.2388 0.2749 0.2510 het 1409.24 97 5 53815240 . G C 1409.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.081;DP=97;Dels=0.00;FS=6.605;HRun=1;HaplotypeScore=3.5666;MQ=60.00;MQ0=0;MQRankSum=-1.139;QD=14.38;ReadPosRankSum=-0.857;VQSLOD=3.9857;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,52:97:99:1439,0,1207 5 53815495 53815495 A C exonic SNX18 nonsynonymous SNV SNX18:NM_001145427:exon1:c.A1713C:p.E571D,SNX18:NM_052870:exon1:c.A1713C:p.E571D 0.49 0.45 0.53 0.45 0.57 0.46 0.5227 0.4685 0.4714 0.4537 0.6413 0.5547 0.5419 0.4509 0.53 0.48 0.55 0.48 0.48 rs2548612 COSM4003556 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(oesophagus);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.066 0.218 N 1 0.090 P 0 0.065 N 2.71 0.132 T 0.0 0.070 N 0.019 0.005 -0.951 0.408 T 0.000 0.000 T . . . -1.130 0.027 0.009 0.062 0.000 0.001 0.007 N c -1.552 -1.576 1.000 0.480 0.033 0.002 3 -0.586 0.111 -1.124 0.033 0.014 0.141 0.000 0.063 0.000 0.016 0.470 0.005 . ENSG00000169271.1|ENSG00000178996.8|ENSG00000178996.8|ENSG00000169271.1 Artery_Tibial|Brain_Putamen_basal_ganglia|Esophagus_Muscularis|Nerve_Tibial 0.5236 0.4630 0.4841 0.4819 0.4521 0.6445 0.5538 0.5317 0.4516 0.5262 0.4603 0.5048 0.5235 0.4511 0.6486 0.5431 0.5605 het 1754.52 123 5 53815495 . A C 1754.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.718;DP=123;Dels=0.00;FS=3.258;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;MQRankSum=1.284;QD=14.26;ReadPosRankSum=0.965;VQSLOD=6.2510;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,65:123:99:1785,0,1554 5 54403957 54403957 T C exonic GZMA nonsynonymous SNV GZMA:NM_006144:exon4:c.T362C:p.M121T 0.98 0.95 0.99 1. 0.98 1. 0.9835 0.9428 0.9945 0.9998 0.9891 0.9816 0.9878 0.9980 0.97 0.94 0.98 1. 0.95 rs3104233 . . . . . . . . . . . . . 0.391 0.108 T 0.0 0.026 B 0.0 0.013 B 0.492 0.120 N 1 0.090 P -0.59 0.022 N -2.3 0.877 D 0.99 0.014 N 0.18 0.219 -0.994 0.315 T 0.000 0.000 T . . . -1.588 0.015 0.002 0.354 0.022 0.037 0.089 N c -1.746 -1.663 0.000 0.069 0.487 0.133 0 -0.872 0.101 1.054 0.299 -1.234 0.015 0.000 0.063 0.000 0.016 1.653 0.026 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9849 0.9421 0.9935 0.9963 1 0.9884 0.9802 0.9888 0.9981 0.9702 0.9413 0.9940 0.9934 1 0.9891 0.9767 0.9827 hom 1483.91 53 5 54403957 . T C 1483.91 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=28.00;VQSLOD=7.6776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1517,114,0 5 54404015 54404015 C T exonic GZMA synonymous SNV GZMA:NM_006144:exon4:c.C420T:p.D140D 0.98 0.95 0.99 1. 0.98 1. 0.9836 0.9431 0.9946 0.9999 0.9891 0.9818 0.9890 0.9981 0.97 0.94 0.98 1. 1. rs1875506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9850 0.9422 0.9937 0.9978 1 0.9884 0.9803 0.9892 0.9981 0.9703 0.9418 0.9940 0.9934 1 0.9891 0.9768 0.9827 hom 2054.79 66 5 54404015 . C T 2054.79 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;QD=31.13;VQSLOD=8.7355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2088,166,0 5 54410120 54410120 A C exonic CDC20B nonsynonymous SNV CDC20B:NM_001145734:exon11:c.T1360G:p.S454A,CDC20B:NM_001170402:exon12:c.T1486G:p.S496A,CDC20B:NM_152623:exon12:c.T1474G:p.S492A 0.98 0.95 0.99 1. 0.98 1. 0.9835 0.9413 0.9943 0.9999 0.9891 0.9818 0.9890 0.9980 0.97 0.94 0.98 1. . rs3104230 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.174 0.173 N 1.000 0.588 P -0.44 0.028 N 0.33 0.583 T 2.38 0.003 N 0.033 0.022 -0.945 0.418 T 0.000 0.000 T . . . 0.590 0.150 8.088 0.768 0.112 0.008 0.034 N c -0.883 -0.672 0.001 0.082 0.487 0.133 0 2.84 0.321 0.696 0.250 -0.405 0.062 0.998 0.411 0.994 0.587 8.888 0.344 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.9849 0.9399 0.9936 0.9978 1 0.9884 0.9804 0.9888 0.9981 0.9698 0.9399 0.9940 0.9934 1 0.9891 0.9768 0.9827 hom 5623.71 167 5 54410120 . A C 5623.71 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4035;MQ=59.22;MQ0=0;QD=33.67;VQSLOD=7.6125;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:167:99:5589,433,0 5 54420799 54420799 A C exonic CDC20B synonymous SNV CDC20B:NM_001145734:exon9:c.T1047G:p.V349V,CDC20B:NM_001170402:exon9:c.T1047G:p.V349V,CDC20B:NM_152623:exon9:c.T1047G:p.V349V 0.17 0.042 0.15 0.19 0.21 0.3 0.2022 0.0580 0.1669 0.1932 0.2602 0.1997 0.2252 0.3078 0.15 0.065 0.19 0.065 0.14 rs382402 COSM3761261;COSM149837 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2043 0.0561 0.1684 0.2201 0.1986 0.2614 0.1961 0.2014 0.3036 0.1628 0.0597 0.1782 0.2185 0.2006 0.2547 0.1923 0.2092 het 3853.92 232 5 54420799 . A C 3853.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.748;DP=232;DS;Dels=0.00;FS=4.692;HRun=2;HaplotypeScore=2.4858;MQ=58.98;MQ0=0;MQRankSum=1.046;QD=16.61;ReadPosRankSum=-0.453;VQSLOD=5.4808;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:114,118:232:99:3288,0,3004 5 54439466 54439466 G A exonic CDC20B nonsynonymous SNV CDC20B:NM_001145734:exon4:c.C361T:p.R121C,CDC20B:NM_001170402:exon4:c.C361T:p.R121C,CDC20B:NM_152623:exon4:c.C361T:p.R121C 0.74 0.56 0.87 0.73 0.83 0.84 0.8118 0.5815 0.9183 0.7363 0.8122 0.8300 0.8040 0.8482 0.75 0.6 0.83 0.69 0.82 rs1021580 COSM5001471;COSM5001470;COSM5001473;COSM5001472 1(pancreas) . . . . . . . . . . . 0.203 0.211 T 0.0 0.026 B 0.001 0.040 B 0.308 0.040 N 1 0.090 P -0.69 0.019 N 3.1 0.083 T -0.29 0.117 N 0.017 0.013 -1.007 0.279 T 0.000 0.000 T . . . 0.732 0.164 9.038 0.619 0.067 0.014 0.048 N c -1.676 -1.652 0.027 0.138 0.497 0.185 0 -1.69 0.077 -0.271 0.085 -1.172 0.016 0.000 0.063 0.002 0.062 0.908 0.012 . ENSG00000145649.7|ENSG00000164287.8 Testis|Testis 0.8194 0.5751 0.9131 0.8841 0.7345 0.8119 0.8300 0.8363 0.8461 0.7553 0.5885 0.8926 0.8642 0.75 0.8215 0.8247 0.7977 hom 1461.78 45 5 54439466 . G A 1461.78 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=32.48;VQSLOD=9.2086;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1495,120,0 5 54459961 54459961 A G exonic GPX8 nonsynonymous SNV GPX8:NM_001008397:exon3:c.A545G:p.K182R,GPX8:NM_001306197:exon3:c.A392G:p.K131R,GPX8:NM_001306201:exon3:c.A266G:p.K89R 0.83 0.91 0.86 0.83 0.79 0.75 0.8095 0.8918 0.8385 0.8225 0.7416 0.8154 0.7919 0.7352 0.85 0.88 0.83 0.91 0.88 rs381852 . . . . . . . . . . . . . 0.577 0.072 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.000 0.810 P -1.455 0.005 N 3.87 0.036 T -0.03 0.075 N 0.054 0.078 -1.032 0.196 T 0.000 0.000 T . . . 2.063 0.309 16.61 0.994 0.642 0.192 0.204 N c -0.509 -0.223 1.000 0.747 0.707 0.730 0 5.92 0.955 2.012 0.403 0.132 0.216 1.000 0.715 1.000 0.888 15.410 0.745 Thioredoxin-like fold ENSG00000152669.8|ENSG00000152669.8|ENSG00000240535.4 Artery_Tibial|Nerve_Tibial|Testis 0.8087 0.8919 0.8381 0.8151 0.8197 0.7402 0.8190 0.8115 0.7387 0.8292 0.8886 0.8282 0.8113 0.8214 0.7487 0.8169 0.7953 het 1044.66 70 5 54459961 . A G 1044.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DP=70;Dels=0.00;FS=0.918;HRun=1;HaplotypeScore=0.9973;MQ=59.47;MQ0=0;MQRankSum=1.549;QD=14.92;ReadPosRankSum=-0.445;VQSLOD=6.3778;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,40:70:99:1075,0,864 5 54572163 54572163 T C exonic DHX29 synonymous SNV DHX29:NM_001345964:exon14:c.A2205G:p.K735K,DHX29:NM_001345965:exon14:c.A450G:p.K150K,DHX29:NM_019030:exon14:c.A2358G:p.K786K 0.18 0.29 0.097 0.29 0.099 0.08 0.1185 0.2461 0.0595 0.2678 0.1008 0.1012 0.1361 0.0789 0.14 0.22 0.1 0.22 0.09 rs3761764 COSM4003560 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1103 0.2360 0.0555 0.0945 0.2665 0.1002 0.0975 0.1104 0.0774 0.1413 0.2340 0.0709 0.1391 0.2580 0.0828 0.0939 0.1171 het 835.78 70 5 54572163 . T C 835.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.907;DP=70;Dels=0.00;FS=3.288;HRun=0;HaplotypeScore=1.9775;MQ=58.33;MQ0=0;MQRankSum=0.754;QD=11.94;ReadPosRankSum=2.451;VQSLOD=4.8806;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,30:70:99:866,0,1035 5 54645411 54645411 G A exonic SKIV2L2 synonymous SNV SKIV2L2:NM_015360:exon12:c.G1251A:p.K417K 0.18 0.29 0.094 0.29 0.098 0.079 0.1174 0.2476 0.0553 0.2661 0.1007 0.0998 0.1302 0.0789 0.14 0.22 0.099 0.21 0.074 rs2061242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1110 0.2425 0.0551 0.0962 0.2714 0.1003 0.0968 0.1098 0.0801 0.1419 0.2387 0.0658 0.1358 0.2568 0.0828 0.0932 0.1143 het 1494.81 143 5 54645411 . G A 1494.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.909;DP=143;Dels=0.00;FS=0.625;HRun=4;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=-0.103;QD=10.45;ReadPosRankSum=-0.480;VQSLOD=6.5488;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,65:143:99:1525,0,1910 5 54674296 54674296 A G exonic SKIV2L2 synonymous SNV SKIV2L2:NM_015360:exon17:c.A1965G:p.Q655Q 0.18 0.29 0.094 0.29 0.097 0.079 0.1179 0.2509 0.0553 0.2668 0.1013 0.1001 0.1308 0.0785 0.14 0.23 0.099 0.2 0.074 rs10471413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1112 0.2453 0.0551 0.0958 0.2704 0.1005 0.0966 0.1097 0.0807 0.1427 0.2411 0.0644 0.1358 0.2596 0.0832 0.0931 0.1125 het 798.91 58 5 54674296 . A G 798.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.770;DP=58;Dels=0.00;FS=1.029;HRun=0;HaplotypeScore=0.8667;MQ=59.60;MQ0=0;MQRankSum=-0.717;QD=13.77;ReadPosRankSum=-0.826;VQSLOD=6.2061;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:829,0,626 5 55081694 55081694 A G exonic DDX4 nonsynonymous SNV DDX4:NM_001166534:exon6:c.A412G:p.I138V,DDX4:NM_001142549:exon12:c.A757G:p.I253V,DDX4:NM_001166533:exon12:c.A799G:p.I267V,DDX4:NM_024415:exon13:c.A859G:p.I287V 0.099 0.029 0.12 0.16 0.13 0.092 0.1108 0.0412 0.1074 0.1606 0.1083 0.1218 0.1236 0.0862 0.094 0.046 0.12 0.076 0.082 rs2305123 COSM4159907;COSM4159908;COSM4159909 1(thyroid) . . . . . . . . . . . 0.036 0.433 D 0.057 0.327 B 0.123 0.325 B 0.000 0.629 D 0.000 0.588 P 1.61 0.413 L 0.99 0.418 T -0.88 0.240 N 0.252 0.314 -1.051 0.141 T 0.001 0.003 T . . . 3.364 0.463 22.9 0.995 0.693 0.975 0.747 D c 0.051 0.189 0.059 0.152 0.487 0.133 0 5.03 0.669 3.816 0.551 1.199 0.960 0.999 0.424 1.000 0.888 10.707 0.450 P-loop containing nucleoside triphosphate hydrolase . . 0.1116 0.0412 0.1026 0.1423 0.1632 0.1108 0.1198 0.1191 0.0874 0.0923 0.0418 0.1172 0.1424 0.1607 0.0982 0.1091 0.1158 het 1058.03 93 5 55081694 . A G 1058.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.911;DP=93;Dels=0.00;FS=1.775;HRun=0;HaplotypeScore=0.9992;MQ=59.40;MQ0=0;MQRankSum=0.977;QD=11.38;ReadPosRankSum=-1.803;VQSLOD=6.2642;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,42:93:99:1088,0,1264 5 55082474 55082474 C T exonic DDX4 synonymous SNV DDX4:NM_001166534:exon7:c.C546T:p.C182C,DDX4:NM_001142549:exon13:c.C891T:p.C297C,DDX4:NM_001166533:exon13:c.C933T:p.C311C,DDX4:NM_024415:exon14:c.C993T:p.C331C 0.47 0.63 0.55 0.5 0.31 0.3 0.3720 0.5976 0.6395 0.4805 0.2631 0.3046 0.3333 0.3037 0.41 0.59 0.32 0.51 0.33 rs957459 COSM4415677;COSM4415679;COSM4415678 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3760 0.6005 0.6101 0.3231 0.4805 0.2655 0.3053 0.3628 0.3061 0.3893 0.5950 0.5757 0.3675 0.4727 0.2563 0.2862 0.3197 het 1892.76 152 5 55082474 . C T 1892.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.862;DP=152;Dels=0.00;FS=3.847;HRun=0;HaplotypeScore=3.3980;MQ=58.53;MQ0=0;MQRankSum=0.516;QD=12.45;ReadPosRankSum=0.258;VQSLOD=5.6869;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,73:152:99:1923,0,1831 5 55155402 55155402 C T exonic IL31RA synonymous SNV IL31RA:NM_001242636:exon2:c.C72T:p.P24P,IL31RA:NM_001242637:exon2:c.C129T:p.P43P,IL31RA:NM_001297570:exon2:c.C129T:p.P43P,IL31RA:NM_139017:exon2:c.C129T:p.P43P,IL31RA:NM_001242638:exon4:c.C72T:p.P24P 0.63 0.65 0.49 0.45 0.73 0.77 0.6877 0.6581 0.3942 0.4625 0.7743 0.7393 0.7258 0.7844 0.71 0.66 0.73 0.63 0.8 rs1009639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6779 0.6599 0.4213 0.7407 0.4673 0.7689 0.7366 0.6979 0.7825 0.7081 0.6695 0.4605 0.7053 0.4765 0.7761 0.7527 0.7224 hom 5581.62 191 5 55155402 . C T 5581.62 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2199;MQ=59.08;MQ0=0;QD=29.22;VQSLOD=7.6536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5581,421,0 5 55178976 55178976 G A exonic IL31RA nonsynonymous SNV IL31RA:NM_001242636:exon5:c.G502A:p.D168N,IL31RA:NM_001242637:exon5:c.G559A:p.D187N,IL31RA:NM_001297570:exon5:c.G559A:p.D187N,IL31RA:NM_001297572:exon5:c.G133A:p.D45N,IL31RA:NM_139017:exon5:c.G559A:p.D187N,IL31RA:NM_001242639:exon6:c.G133A:p.D45N,IL31RA:NM_001242638:exon7:c.G502A:p.D168N 0.01 0.0008 0.014 . 0.036 0.0031 0.0223 0.0053 0.0129 0 0.0147 0.0352 0.0176 0.0026 0.025 0.0068 0.035 0.011 0.0082 rs13184107 COSM4159910;COSM4159911;COSM4159912 1(thyroid) . . . . . . . . . . . 0.428 0.096 T 0.0 0.112 B 0.002 0.093 B 0.000 0.002 N 1 0.090 N 0.09 0.084 N 0.35 0.580 T 0.33 0.039 N 0.038 0.055 -1.049 0.147 T 0.012 0.044 T . . . -1.755 0.012 0.002 0.685 0.084 0.005 0.025 N c -2.142 -2.177 1.000 0.747 0.638 0.428 0 -11.1 0.001 -0.861 0.043 -0.720 0.036 0.000 0.063 0.037 0.154 5.247 0.147 Fibronectin type III|Immunoglobulin-like fold;Fibronectin type III|Immunoglobulin-like fold|Type I cytokine receptor\x2c cytokine-binding domain . . 0.0228 0.0050 0.0135 0.0401 0 0.0157 0.0369 0.0266 0.0023 0.0211 0.0070 0.0107 0.0265 0 0.0166 0.0326 0.0276 het 969.01 73 5 55178976 . G A 969.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.856;DP=73;Dels=0.01;FS=3.165;HRun=1;HaplotypeScore=2.9448;MQ=59.44;MQ0=0;MQRankSum=0.966;QD=13.09;ReadPosRankSum=0.668;VQSLOD=6.3318;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:999,0,990 5 55206444 55206444 G A exonic IL31RA nonsynonymous SNV IL31RA:NM_001242636:exon12:c.G1529A:p.S510N,IL31RA:NM_001242637:exon12:c.G1586A:p.S529N,IL31RA:NM_139017:exon12:c.G1586A:p.S529N,IL31RA:NM_001242639:exon13:c.G1160A:p.S387N,IL31RA:NM_001242638:exon14:c.G1529A:p.S510N 0.31 0.33 0.22 0.33 0.3 0.34 0.3014 0.3401 0.1831 0.3343 0.2827 0.2975 0.2896 0.3665 0.31 0.34 0.29 0.28 0.33 rs161704 COSM4003561;COSM4003562 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.096 T 0.17 0.270 B 0.068 0.262 B 0.007 0.315 N 0.046 0.380 P 1.385 0.346 L 0.41 0.571 T -0.1 0.116 N 0.11 0.120 -0.993 0.319 T 0.000 0.000 T . . . 1.225 0.213 11.88 0.246 0.011 0.508 0.285 D c -0.139 -0.034 0.999 0.372 0.615 0.372 0 3.33 0.371 0.327 0.193 0.135 0.219 0.993 0.376 0.998 0.697 6.205 0.197 Fibronectin type III;Fibronectin type III|Immunoglobulin-like fold . . 0.2935 0.3439 0.1901 0.2170 0.3305 0.2812 0.3025 0.2756 0.3645 0.3094 0.3399 0.2045 0.2033 0.3245 0.2808 0.3051 0.3041 het 2416.68 175 5 55206444 . G A 2416.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.086;DP=175;Dels=0.00;FS=3.859;HRun=1;HaplotypeScore=4.3121;MQ=59.74;MQ0=0;MQRankSum=-0.294;QD=13.81;ReadPosRankSum=1.798;VQSLOD=4.9002;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,88:175:99:2447,0,2519 5 55406952 55406952 T C exonic ANKRD55 synonymous SNV ANKRD55:NM_024669:exon10:c.A1623G:p.P541P 0.22 0.086 0.13 0.31 0.28 0.3 0.2546 0.1127 0.1308 0.3062 0.2956 0.2669 0.2889 0.3430 0.22 0.12 0.27 0.16 0.3 rs321775 COSM149840 1(stomach);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2500 0.1056 0.1403 0.2869 0.3034 0.2893 0.2643 0.2606 0.3185 0.2244 0.1124 0.1818 0.3079 0.2695 0.2959 0.2653 0.2771 het 2933.67 238 5 55406952 . T C 2933.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.472;DP=238;Dels=0.00;FS=0.508;HRun=0;HaplotypeScore=3.6229;MQ=59.05;MQ0=0;MQRankSum=-1.926;QD=12.33;ReadPosRankSum=1.469;VQSLOD=4.8634;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,111:238:99:2964,0,3259 5 55407542 55407542 C T exonic ANKRD55 nonsynonymous SNV ANKRD55:NM_024669:exon10:c.G1033A:p.V345M 0.21 0.066 0.13 0.29 0.28 0.3 0.2430 0.0930 0.1275 0.2907 0.2956 0.2648 0.2835 0.3175 0.21 0.097 0.27 0.15 0.28 rs321776 COSM4407235 1(liver);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.001 0.102 B 0.001 0.040 B 0.000 0.504 N 1.000 0.090 P -1.01 0.011 N 1.41 0.370 T 0.44 0.055 N 0.055 0.055 -0.942 0.423 T 0.000 0.000 T . . . -1.592 0.015 0.002 0.096 0.001 0.020 0.060 N c -1.943 -1.914 0.999 0.375 0.554 0.283 0 -3.45 0.045 -0.275 0.085 -2.123 0.004 0.001 0.137 0.196 0.216 13.739 0.622 Ankyrin repeat-containing domain . . 0.2451 0.0867 0.1447 0.2919 0.2903 0.2907 0.2632 0.2617 0.3183 0.2174 0.0917 0.1782 0.3079 0.2544 0.2958 0.2651 0.2755 het 4491.64 250 5 55407542 . C T 4491.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.235;DP=250;DS;Dels=0.00;FS=2.928;HRun=0;HaplotypeScore=4.4009;MQ=59.30;MQ0=0;MQRankSum=-0.345;QD=17.97;ReadPosRankSum=-1.847;VQSLOD=4.4780;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,142:250:99:3849,0,2732 5 56161787 56161787 G A exonic MAP3K1 synonymous SNV MAP3K1:NM_005921:exon6:c.G1284A:p.T428T 0.8 0.77 0.72 0.72 0.87 0.94 0.8479 0.7949 0.6854 0.7038 0.8939 0.8787 0.8430 0.9254 0.85 0.8 0.88 0.83 0.84 rs832575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8428 0.7990 0.6993 0.8723 0.7044 0.8958 0.8775 0.8386 0.9255 0.8481 0.7975 0.7005 0.8907 0.7163 0.9001 0.8844 0.8890 hom 1876.10 64 5 56161787 . G A 1876.10 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.59;MQ0=0;QD=29.31;VQSLOD=8.9668;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1909,150,0 5 56177443 56177443 G A exonic MAP3K1 nonsynonymous SNV MAP3K1:NM_005921:exon14:c.G2416A:p.D806N 0.48 0.46 0.49 0.24 0.71 0.48 0.5984 0.4878 0.3976 0.2066 0.7210 0.7105 0.6178 0.5051 0.65 0.49 0.72 0.53 0.67 rs702689 COSM4003565;COSM4003564 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.195 0.207 T 0.999 0.764 D 0.915 0.633 D 0.000 0.843 D 0.000 0.548 P 2.085 0.579 M 0.82 0.481 T -0.1 0.085 N 0.075 0.084 -0.975 0.361 T 0.000 0.000 T . . . 2.329 0.341 18.36 0.995 0.679 0.982 0.807 D c 0.683 0.722 1.000 0.489 0.566 0.321 0 5.56 0.836 8.193 0.896 1.048 0.713 1.000 0.715 1.000 0.888 19.881 0.969 . ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.5951 0.4903 0.4147 0.7317 0.2057 0.7222 0.7114 0.6248 0.5003 0.6061 0.4892 0.4555 0.7748 0.2011 0.7146 0.6930 0.6704 hom 3721.58 125 5 56177443 . G A 3721.58 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=59.18;MQ0=0;QD=29.77;VQSLOD=9.0278;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3721,292,0 5 56177743 56177743 G A exonic MAP3K1 nonsynonymous SNV MAP3K1:NM_005921:exon14:c.G2716A:p.V906I 0.71 0.71 0.65 0.57 0.81 0.78 0.7648 0.7433 0.5773 0.5700 0.8067 0.8192 0.7595 0.7734 0.8 0.75 0.82 0.74 0.77 rs832582 COSM4416190;COSM4416191 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.847 0.028 T 0.0 0.026 B 0.0 0.013 B 0.279 0.150 N 1 0.090 P 0.11 0.085 N 1.56 0.296 T 0.11 0.057 N 0.009 0.001 -1.009 0.273 T 0.000 0.000 T . . . -2.273 0.005 0.001 0.138 0.003 0.767 0.374 D c -0.978 -0.901 0.262 0.188 0.566 0.321 0 3.58 0.400 1.446 0.345 -0.216 0.099 0.989 0.365 0.036 0.153 12.236 0.536 . ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000271828.1|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Vagina|Whole_Blood 0.7583 0.7471 0.5915 0.8222 0.5679 0.8061 0.8197 0.7591 0.7753 0.7760 0.7459 0.6089 0.8477 0.5902 0.8130 0.8112 0.8004 hom 2665.41 83 5 56177743 . G A 2665.41 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=32.11;VQSLOD=9.7485;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2698,214,0 5 56177849 56177851 CAA - exonic MAP3K1 nonframeshift deletion MAP3K1:NM_005921:exon14:c.2822_2824del:p.T949del . . . . . . 0.7393 0.7181 0.5716 0.5585 0.7889 0.7914 0.7338 0.7348 . . . . . rs869264361 COSM4594439;COSM4594440 1(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7413 0.7298 0.5781 0.8072 0.5516 0.7911 0.8045 0.7408 0.7555 0.7706 0.7403 0.5958 0.8425 0.5813 0.8033 0.8077 0.7961 hom 2297.08 70 5 56177848 . TCAA T 2297.08 Mask AC=2;AF=1.00;AN=2;DP=70;FS=0.000;HRun=0;HaplotypeScore=312.9599;MQ=58.99;MQ0=0;QD=32.82;set=variant2 GT:AD:DP:GQ:PL 1/1:14,53:70:99:2339,171,0 5 56178217 56178217 A C exonic MAP3K1 synonymous SNV MAP3K1:NM_005921:exon14:c.A3190C:p.R1064R 0.71 0.71 0.65 0.57 0.81 0.78 0.7653 0.7430 0.5777 0.5712 0.8071 0.8195 0.7595 0.7748 0.8 0.75 0.82 0.74 0.79 rs832583 COSM4159918;COSM4159919 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7587 0.7471 0.5917 0.8225 0.5680 0.8068 0.8199 0.7587 0.7767 0.7764 0.7465 0.6089 0.8477 0.5897 0.8130 0.8117 0.8010 hom 3230.05 101 5 56178217 . A C 3230.05 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9150;MQ=58.95;MQ0=0;QD=31.98;VQSLOD=9.3306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3263,268,0 5 56207123 56207123 T A exonic SETD9 nonsynonymous SNV SETD9:NM_001171990:exon2:c.T226A:p.S76T,SETD9:NM_001323018:exon2:c.T148A:p.S50T,SETD9:NM_001323019:exon2:c.T226A:p.S76T,SETD9:NM_001323020:exon2:c.T148A:p.S50T,SETD9:NM_153706:exon2:c.T226A:p.S76T 0.49 0.42 0.51 0.26 0.76 0.53 0.6323 0.4742 0.4259 0.2285 0.7554 0.7522 0.6674 0.5509 0.66 0.48 0.76 0.49 0.67 rs2257505 COSM4003566 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.325 0.142 N 1 0.090 P -1.1 0.010 N 1.57 0.293 T 0.08 0.060 N 0.027 0.009 -0.976 0.360 T 0.000 0.000 T . . . -0.247 0.072 0.873 0.766 0.111 0.022 0.064 N c -1.275 -1.082 1.000 0.462 0.609 0.349 0 1.49 0.219 -0.061 0.116 0.115 0.208 0.001 0.137 0.996 0.625 3.615 0.076 . ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Vagina|Whole_Blood 0.6298 0.4724 0.4436 0.7740 0.2242 0.7543 0.7543 0.6711 0.5424 0.6317 0.4737 0.4892 0.8079 0.2073 0.7516 0.7405 0.7121 hom 1426.95 48 5 56207123 . T A 1426.95 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.73;VQSLOD=13.2877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:48:99:1460,123,0 5 56209735 56209735 A G exonic SETD9 nonsynonymous SNV SETD9:NM_001171990:exon4:c.A625G:p.K209E,SETD9:NM_001323018:exon4:c.A547G:p.K183E,SETD9:NM_001323019:exon4:c.A625G:p.K209E,SETD9:NM_001323020:exon4:c.A547G:p.K183E,SETD9:NM_001323022:exon4:c.A169G:p.K57E,SETD9:NM_153706:exon4:c.A625G:p.K209E 0.14 0.079 0.18 0.031 0.34 0.12 0.2417 0.1141 0.1439 0.0261 0.2715 0.3261 0.2732 0.1487 0.26 0.12 0.34 0.14 0.34 rs40497 COSM4159920 1(breast);1(pancreas);1(liver);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.673 0.045 T 0.105 0.244 B 0.009 0.133 B 0.003 0.357 N 1.000 0.090 P 1.04 0.263 L 1.49 0.315 T -1.33 0.332 N 0.063 0.048 -0.967 0.378 T 0.000 0.000 T . . . 0.740 0.165 9.089 0.993 0.600 0.400 0.261 N c -0.474 -0.374 1.000 0.517 0.706 0.609 0 3.33 0.371 0.582 0.234 1.088 0.866 0.093 0.224 0.994 0.587 7.101 0.244 SET domain ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7|ENSG00000155542.7 Artery_Aorta|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2426 0.1075 0.1515 0.3853 0.0242 0.2742 0.3269 0.2897 0.1489 0.2285 0.1113 0.1782 0.4172 0.0160 0.2845 0.3021 0.2872 het 980.33 94 5 56209735 . A G 980.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.638;DP=94;Dels=0.00;FS=5.439;HRun=0;HaplotypeScore=1.9658;MQ=59.11;MQ0=0;MQRankSum=1.389;QD=10.43;ReadPosRankSum=0.926;VQSLOD=5.4406;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,43:94:99:1010,0,1301 5 56526783 56526783 G A exonic GPBP1 synonymous SNV GPBP1:NM_001127236:exon3:c.G195A:p.G65G,GPBP1:NM_001127235:exon4:c.G195A:p.G65G,GPBP1:NM_001331037:exon4:c.G174A:p.G58G,GPBP1:NM_022913:exon4:c.G174A:p.G58G 0.85 0.97 0.83 1. 0.65 0.77 0.7490 0.9314 0.8647 0.9983 0.6648 0.6785 0.7196 0.7437 0.76 0.93 0.68 0.88 0.57 rs1130203 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7488 0.9339 0.8540 0.6665 0.9989 0.6623 0.6802 0.7333 0.7434 0.7705 0.9277 0.8329 0.6954 0.9988 0.6497 0.6830 0.7296 hom 4562.41 160 5 56526783 . G A 4562.41 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8824;MQ=59.10;MQ0=0;QD=28.52;VQSLOD=7.3513;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4562,361,0 5 60982841 60982841 G A exonic C5orf64 nonsynonymous SNV C5orf64:NM_173667:exon3:c.G169A:p.A57T 0.5 0.45 0.49 0.65 0.34 0.57 0.4214 0.4571 0.6381 0.6803 0.3662 0.3170 0.3717 0.5604 0.36 0.43 0.32 0.49 . rs16893687 COSM3761272 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4312 0.4547 0.6247 0.2771 0.6860 0.3675 0.3230 0.3807 0.5618 0.3904 0.4387 0.6112 0.2517 0.6917 0.3725 0.3262 0.3633 het 2125.50 185 5 60982841 . G A 2125.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.044;DP=185;Dels=0.01;FS=3.421;HRun=0;HaplotypeScore=6.8855;MQ=58.48;MQ0=0;MQRankSum=1.058;QD=11.43;ReadPosRankSum=-0.522;VQSLOD=4.8266;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,85:185:99:2155,0,2490 5 60999768 60999768 C T exonic C5orf64 nonsynonymous SNV C5orf64:NM_173667:exon4:c.C301T:p.R101W 0.22 0.34 0.21 0.003 0.33 0.17 0.2958 0.3430 0.1868 0.0008 0.2673 0.3687 0.3087 0.1946 0.34 0.32 0.35 0.23 . rs436696 COSM1438081 1(skin);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2689 0.3276 0.1729 0.3544 0.0008 0.2528 0.3510 0.3093 0.1755 0.3014 0.3364 0.1794 0.2748 0.0019 0.2642 0.3309 0.2776 het 482.66 59 5 60999768 . C T 482.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.857;DP=59;Dels=0.00;FS=3.822;HRun=0;HaplotypeScore=0.9867;MQ=59.37;MQ0=0;MQRankSum=-0.505;QD=8.18;ReadPosRankSum=0.649;VQSLOD=5.8324;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,23:59:99:513,0,956 5 61694379 61694379 T C exonic DIMT1 synonymous SNV DIMT1:NM_001348076:exon6:c.A405G:p.S135S,DIMT1:NM_014473:exon6:c.A405G:p.S135S 0.58 0.72 0.5 0.68 0.48 0.47 0.5119 0.6970 0.5227 0.6521 0.4621 0.4781 0.5033 0.4717 0.55 0.7 0.47 0.55 0.43 rs247264 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5095 0.6974 0.5227 0.5206 0.6513 0.4667 0.4748 0.5077 0.4755 0.5417 0.6888 0.4904 0.4768 0.6694 0.4645 0.4681 0.4857 het 1716.07 148 5 61694379 . T C 1716.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.290;DP=148;DS;Dels=0.00;FS=0.625;HRun=0;HaplotypeScore=7.4720;MQ=59.18;MQ0=0;MQRankSum=0.324;QD=11.60;ReadPosRankSum=-1.592;VQSLOD=3.7270;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,70:148:99:1746,0,2080 5 61772535 61772535 G T exonic IPO11 synonymous SNV IPO11:NM_001134779:exon9:c.G903T:p.V301V,IPO11:NM_016338:exon9:c.G783T:p.V261V 0.44 0.41 0.49 0.32 0.49 0.53 0.4703 0.4245 0.4727 0.3482 0.4560 0.4812 0.4604 0.5233 0.46 0.41 0.49 0.47 0.34 rs26635 COSM4407357;COSM149841 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4569 0.4150 0.4396 0.3981 0.3258 0.4510 0.4788 0.4493 0.5070 0.4581 0.4344 0.5109 0.4437 0.3340 0.4532 0.4819 0.4856 het 868.81 93 5 61772535 . G T 868.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.273;DP=93;Dels=0.00;FS=2.783;HRun=1;HaplotypeScore=4.9554;MQ=57.85;MQ0=0;MQRankSum=0.845;QD=9.34;ReadPosRankSum=1.109;VQSLOD=4.6112;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,39:93:99:899,0,1388 5 63905068 63905068 A G exonic RGS7BP nonsynonymous SNV RGS7BP:NM_001271890:exon4:c.A364G:p.I122V,RGS7BP:NM_001029875:exon6:c.A763G:p.I255V 0.78 0.84 0.85 0.61 0.84 0.78 0.8321 0.8456 0.8900 0.5921 0.7442 0.8620 0.8172 0.8235 0.86 0.85 0.86 0.81 0.84 rs889248 COSM149845 1(stomach);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.497 N 1.000 0.090 P -0.895 0.014 N 1.79 0.255 T 0.43 0.033 N 0.01 0.052 -0.972 0.367 T 0.000 0.000 T . . . 0.016 0.095 2.739 0.595 0.061 0.065 0.123 N c -0.628 -0.352 0.000 0.062 0.549 0.223 0 4.6 0.564 3.776 0.548 0.076 0.183 1.000 0.715 0.974 0.471 9.057 0.354 . ENSG00000186479.4 Testis 0.8316 0.8426 0.8869 0.8986 0.5961 0.7442 0.8620 0.8532 0.8256 0.8225 0.8415 0.8957 0.8808 0.5844 0.7520 0.8476 0.8200 hom 1535.64 50 5 63905068 . A G 1535.64 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.84;MQ0=0;QD=30.71;VQSLOD=8.4715;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1569,126,0 5 64097145 64097145 C G exonic CWC27 nonsynonymous SNV CWC27:NM_001297644:exon9:c.C766G:p.P256A,CWC27:NM_001297645:exon9:c.C766G:p.P256A,CWC27:NM_001318000:exon9:c.C766G:p.P256A,CWC27:NM_005869:exon9:c.C766G:p.P256A 0.41 0.5 0.22 0.51 0.34 0.41 0.3205 0.4467 0.1395 0.4581 0.3116 0.2970 0.3248 0.3907 0.35 0.43 0.31 0.37 0.057 rs7735338 COSM1754311 3(urinary_tract);1(large_intestine) . . . . . . . . . . . 0.69 0.329 T 0.0 0.026 B 0.0 0.040 B 0.409 0.046 N 1 0.090 P 0 0.065 N 1.14 0.384 T 0.44 0.033 N 0.018 0.003 -0.930 0.442 T 0.000 0.000 T . . . -1.947 0.009 0.001 0.124 0.002 0.007 0.029 N c -1.470 -1.380 0.826 0.246 0.732 0.924 0 0.351 0.152 0.333 0.194 -1.313 0.013 0.995 0.385 0.017 0.128 0.394 0.004 . ENSG00000153015.11 Testis 0.2855 0.4127 0.1256 0.2402 0.4260 0.3281 0.2662 0.2760 0.3580 0.3789 0.4817 0.2014 0.2450 0.5143 0.3520 0.3261 0.3384 hom 469.81 20 5 64097145 . C G 469.81 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.91;MQ0=0;QD=23.49;VQSLOD=7.1492;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:36.12:503,36,0 5 64267595 64267595 T C exonic CWC27 synonymous SNV CWC27:NM_001297644:exon12:c.T1108C:p.L370L,CWC27:NM_005869:exon12:c.T1108C:p.L370L 0.34 0.41 0.18 0.47 0.24 0.33 0.2683 0.3494 0.1215 0.4565 0.3259 0.2369 0.2841 0.3247 0.27 0.34 0.23 0.28 0.22 rs2278351 COSM3761277 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2604 0.3533 0.1185 0.2712 0.4553 0.3287 0.2298 0.2536 0.3211 0.2905 0.3552 0.1313 0.2616 0.4584 0.3190 0.2377 0.2887 hom 2966.85 113 5 64267595 . T C 2966.85 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;QD=26.26;VQSLOD=7.6588;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3000,217,0 5 65317181 65317181 C T exonic ERBIN synonymous SNV ERBIN:NM_001006600:exon8:c.C565T:p.L189L,ERBIN:NM_001253697:exon8:c.C565T:p.L189L,ERBIN:NM_001253698:exon8:c.C565T:p.L189L,ERBIN:NM_001253699:exon8:c.C565T:p.L189L,ERBIN:NM_001253701:exon8:c.C565T:p.L189L,ERBIN:NM_018695:exon8:c.C565T:p.L189L 0.67 0.48 0.67 0.54 0.88 0.86 0.7708 0.5284 0.5289 0.5172 0.8561 0.8530 0.8113 0.8559 0.74 0.52 0.86 0.56 0.8 rs706679 COSM5426487;COSM5426486 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7623 0.5180 0.5341 0.7293 0.5139 0.8517 0.8604 0.7940 0.8510 0.7348 0.5346 0.5537 0.7367 0.5224 0.8509 0.8512 0.8234 hom 1887.16 68 5 65317181 . C T 1887.16 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.79;MQ0=0;QD=27.75;VQSLOD=7.4152;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1920,147,0 5 65321311 65321311 C T exonic ERBIN nonsynonymous SNV ERBIN:NM_001006600:exon11:c.C821T:p.S274L,ERBIN:NM_001253697:exon11:c.C821T:p.S274L,ERBIN:NM_001253698:exon11:c.C821T:p.S274L,ERBIN:NM_001253699:exon11:c.C821T:p.S274L,ERBIN:NM_001253701:exon11:c.C821T:p.S274L,ERBIN:NM_018695:exon11:c.C821T:p.S274L 0.12 0.0091 0.17 0.094 0.15 0.23 0.1546 0.0288 0.1712 0.0989 0.1660 0.1551 0.1435 0.2449 0.12 0.035 0.16 0.098 0.082 rs3213837 COSM5002091;COSM5002092;COSM5002090 4(soft_tissue);1(pancreas) . . . . . . . . . . . 0.551 0.135 T 0.024 0.178 B 0.018 0.173 B 0.000 0.559 D 0.001 0.470 P 1.5 0.380 L 1.83 0.248 T -0.85 0.232 N 0.113 0.134 -1.022 0.230 T 0.000 0.001 T . . . 2.079 0.311 16.72 0.842 0.146 0.369 0.254 N c -0.717 -0.604 0.938 0.273 0.707 0.730 0 2.3 0.276 1.287 0.327 0.007 0.138 0.653 0.280 0.987 0.523 4.465 0.110 Leucine-rich repeat domain\x2c L domain-like . . 0.1538 0.0259 0.1610 0.1079 0.0948 0.1585 0.1574 0.1536 0.2408 0.1203 0.0297 0.1337 0.1192 0.1015 0.1702 0.1603 0.1585 het 2149.46 180 5 65321311 . C T 2149.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.878;DP=180;Dels=0.00;FS=0.563;HRun=2;HaplotypeScore=3.9840;MQ=58.47;MQ0=0;MQRankSum=0.836;QD=11.94;ReadPosRankSum=-1.249;VQSLOD=5.6723;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,86:180:99:2179,0,2269 5 66459878 66459878 G C exonic MAST4 nonsynonymous SNV MAST4:NM_001290227:exon26:c.G4088C:p.R1363P,MAST4:NM_001297651:exon26:c.G4289C:p.R1430P,MAST4:NM_001290226:exon27:c.G4253C:p.R1418P,MAST4:NM_015183:exon28:c.G4304C:p.R1435P,MAST4:NM_001164664:exon29:c.G4871C:p.R1624P 0.95 0.98 0.96 0.9 0.95 0.95 0.9583 0.9821 0.9659 0.9035 0.9403 0.9645 0.9527 0.9503 0.97 0.98 0.97 0.83 . rs1705399 COSM3761291;COSM3761288;COSM3761290;COSM3761289 3(large_intestine) . . . . . . . . . . . 0.36 0.126 T 0.0 0.026 B 0.0 0.013 B 0.744 0.064 N 1 0.090 P -0.895 0.014 N -0.12 0.650 T 1.82 0.005 N 0.015 0.458 -0.975 0.362 T 0.000 0.000 T . . . 0.584 0.150 8.045 0.390 0.027 0.026 0.070 N c -1.623 -1.603 1.000 0.473 0.659 0.489 0 -0.23 0.124 0.064 0.142 -1.120 0.018 0.000 0.063 0.000 0.016 5.375 0.154 . . . 0.9560 0.9805 0.9648 0.9809 0.8961 0.9378 0.9642 0.9587 0.9467 0.9596 0.9765 0.9570 0.9934 0.8951 0.9416 0.9607 0.9541 hom 458.53 15 5 66459878 . G C 458.53 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.57;VQSLOD=13.7648;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:42.11:492,42,0 5 66460390 66460390 G A exonic MAST4 nonsynonymous SNV MAST4:NM_001290227:exon26:c.G4600A:p.V1534I,MAST4:NM_001297651:exon26:c.G4801A:p.V1601I,MAST4:NM_001290226:exon27:c.G4765A:p.V1589I,MAST4:NM_015183:exon28:c.G4816A:p.V1606I,MAST4:NM_001164664:exon29:c.G5383A:p.V1795I 0.0098 0.0015 0.017 . 0.024 0.011 0.0188 0.0034 0.0050 0 0.0437 0.0254 0.0211 0.0104 0.016 0.0038 0.021 0.011 . rs17221458 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.987 0.807 D 0.000 0.504 D 0.983 0.400 D 1.73 0.448 L -0.55 0.712 T -0.46 0.150 N 0.134 0.155 -0.267 0.759 T 0.274 0.646 T . . . 6.328 0.874 29.3 0.999 0.977 0.955 0.647 D c 0.688 0.698 1.000 0.747 0.707 0.730 0 5.14 0.699 7.619 0.821 1.048 0.713 1.000 0.715 0.943 0.417 18.805 0.920 . . . 0.0179 0.0031 0.0040 0.0091 0 0.0453 0.0242 0.0197 0.0105 0.0189 0.0037 0.0072 0.0033 0 0.0467 0.0238 0.0275 het 2343.54 163 5 66460390 . G A 2343.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.429;DP=163;Dels=0.00;FS=2.790;HRun=0;HaplotypeScore=4.9232;MQ=59.32;MQ0=0;MQRankSum=0.693;QD=14.38;ReadPosRankSum=-1.341;VQSLOD=5.1954;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,86:163:99:2374,0,2016 5 66480004 66480004 T C exonic CD180 nonsynonymous SNV CD180:NM_005582:exon3:c.A667G:p.I223V 0.99 1. 1. 0.98 1. 1. 0.9979 1 0.9996 0.9740 1 0.9999 0.9934 0.9996 1. 1. 1. 1. 1. rs1697144 . . . . . . . . . . . . . 0.783 0.033 T 0.0 0.026 B 0.0 0.013 B 0.599 0.056 N 1 0.090 P -0.13 0.045 N 1.38 0.340 T 0.22 0.047 N 0.005 0.000 -1.003 0.291 T 0.000 0.000 T . . . -2.289 0.005 0.001 0.167 0.005 0.022 0.063 N c -1.330 -1.331 0.991 0.324 0.624 0.395 0 -0.748 0.105 -0.932 0.040 -0.328 0.075 0.000 0.063 0.095 0.187 1.026 0.014 Leucine-rich repeat domain\x2c L domain-like . . 0.9981 1 0.9997 0.9997 0.9756 1 0.9999 0.9989 0.9996 0.9991 1 1 1 0.9827 0.9997 1 1 hom 2282.41 72 5 66480004 . T C 2282.41 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=31.70;VQSLOD=8.7072;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2315,178,0 5 67575548 67575548 T C exonic PIK3R1 synonymous SNV PIK3R1:NM_181523:exon5:c.T621C:p.I207I 0.019 0.0015 0.017 . 0.038 0.046 0.0358 0.0054 0.0174 0 0.0623 0.0424 0.0375 0.0495 0.03 0.0064 0.042 0.011 0.033 rs61749601 COSM5019326 1(haematopoietic_and_lymphoid_tissue);2(soft_tissue) other not_specified RCV000147278.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0357 0.0049 0.0184 0.0476 5.798e-05 0.0627 0.0404 0.0380 0.0491 0.0326 0.0042 0.0167 0.0364 0 0.0644 0.0444 0.0570 het 2180.65 153 5 67575548 . T C 2180.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.753;DP=153;Dels=0.00;FS=2.102;HRun=0;HaplotypeScore=6.0383;MQ=59.21;MQ0=0;MQRankSum=0.488;QD=14.25;ReadPosRankSum=-0.746;VQSLOD=4.7525;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,87:153:99:2211,0,1728 5 68531253 68531253 C T exonic CDK7 nonsynonymous SNV CDK7:NM_001324071:exon2:c.C65T:p.T22I 0.63 0.77 0.64 0.5 0.54 0.66 0.5842 0.7165 0.6562 0.5091 0.5757 0.5433 0.5650 0.6591 0.6 0.71 0.54 0.6 0.6 rs2972388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5808 0.7190 0.6450 0.5447 0.5026 0.5786 0.5379 0.5709 0.6564 0.5993 0.7158 0.6295 0.5298 0.4963 0.5807 0.5476 0.5840 het 1046.48 120 5 68531253 . C T 1046.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.672;DP=120;Dels=0.00;FS=8.819;HRun=0;HaplotypeScore=0.9995;MQ=59.69;MQ0=0;MQRankSum=-1.038;QD=8.72;ReadPosRankSum=-0.065;VQSLOD=3.5731;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,47:120:99:1076,0,1840 5 68616331 68616331 C T exonic CCDC125 nonsynonymous SNV CCDC125:NM_001297696:exon2:c.G37A:p.V13M,CCDC125:NM_176816:exon2:c.G37A:p.V13M 0.26 0.062 0.3 0.28 0.45 0.28 0.3684 0.1205 0.2863 0.2950 0.4215 0.4439 0.4029 0.2926 0.34 0.13 0.44 0.29 0.35 rs10471774 . . . . . . . . . . . . . 0.054 0.390 T 0.994 0.647 D 0.649 0.506 P 0.631 0.107 N 1 0.245 P 1.95 0.526 M 0.91 0.468 T -0.62 0.208 N 0.043 0.025 -0.914 0.464 T 0.000 0.000 T . . . 3.465 0.474 23.0 0.997 0.821 0.255 0.225 N c -0.187 -0.320 0.002 0.093 0.706 0.609 0 4.02 0.458 1.404 0.340 0.934 0.450 0.001 0.137 0.272 0.232 11.374 0.488 . ENSG00000183323.8|ENSG00000213830.3|ENSG00000197822.6|ENSG00000197822.6|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000153044.5|ENSG00000085231.9|ENSG00000253203.2|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000183323.8|ENSG00000197822.6|ENSG00000183323.8|ENSG00000085231.9|ENSG00000253203.2|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000253203.2|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000183323.8|ENSG00000134056.7|ENSG00000183323.8|ENSG00000197822.6|ENSG00000183323.8|ENSG00000213830.3|ENSG00000253203.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3720 0.1193 0.2965 0.3522 0.3038 0.4172 0.4526 0.3985 0.2957 0.3398 0.1277 0.3043 0.3433 0.3022 0.4169 0.4473 0.4008 het 1823.50 147 5 68616331 . C T 1823.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.008;DP=147;Dels=0.00;FS=5.247;HRun=0;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=0.281;QD=12.40;ReadPosRankSum=-0.757;VQSLOD=5.8568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,74:147:99:1853,0,1726 5 68695940 68695940 T G exonic RAD17 nonsynonymous SNV RAD17:NM_133339:exon14:c.T1670G:p.L557R,RAD17:NM_133340:exon14:c.T1142G:p.L381R,RAD17:NM_133341:exon14:c.T1379G:p.L460R,RAD17:NM_002873:exon15:c.T1637G:p.L546R,RAD17:NM_133344:exon15:c.T1637G:p.L546R,RAD17:NM_001278622:exon16:c.T1637G:p.L546R,RAD17:NM_133342:exon16:c.T1637G:p.L546R,RAD17:NM_133343:exon16:c.T1637G:p.L546R,RAD17:NM_133338:exon17:c.T1637G:p.L546R 0.25 0.045 0.3 0.32 0.32 0.37 0.2992 0.0771 0.2388 0.3119 0.3198 0.3219 0.3097 0.3740 0.24 0.084 0.32 0.18 0.28 rs1045051 COSM3761298;COSM3761297 1(liver);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 2.56 0.750 M 1.79 0.255 T -2.82 0.629 D 0.405 0.700 -1.039 0.176 T 0.000 0.000 T . . . 6.449 0.890 29.8 0.998 0.886 0.980 0.786 D c 0.756 0.740 1.000 0.429 0.732 0.924 0 5.73 0.897 7.445 0.795 1.011 0.635 1.000 0.715 0.997 0.653 15.060 0.715 . ENSG00000183323.8|ENSG00000153044.5|ENSG00000152942.14|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000134056.7|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2932 0.0684 0.2330 0.2710 0.3031 0.3232 0.3178 0.2894 0.3622 0.2485 0.0798 0.2386 0.2919 0.3064 0.3063 0.3247 0.3132 het 652.29 86 5 68695940 . T G 652.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.583;DP=86;Dels=0.00;FS=1.828;HRun=0;HaplotypeScore=0.0000;MQ=58.00;MQ0=0;MQRankSum=0.059;QD=7.58;ReadPosRankSum=-1.285;VQSLOD=3.5300;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,33:86:99:682,0,1270 5 68715310 68715310 C T exonic MARVELD2 nonsynonymous SNV MARVELD2:NM_001038603:exon2:c.C98T:p.T33I,MARVELD2:NM_001244734:exon2:c.C98T:p.T33I 0.48 0.42 0.54 0.49 0.49 0.52 0.4997 0.4215 0.5209 0.4862 0.5825 0.4918 0.5253 0.5382 0.47 0.42 0.49 0.4 0.48 rs1185246 COSM4407145 1(liver);1(oesophagus) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000036814.3|RCV000352210.1 MedGen|MedGen CN169374|CN239439 . . . . . . 0.074 0.413 T 0.078 0.423 B 0.054 0.385 B 0.262 0.037 N 1 0.090 P 1.59 0.404 L 1.49 0.456 T -0.71 0.202 N 0.049 0.271 -0.946 0.417 T 0.000 0.000 T . . . 0.849 0.175 9.763 0.949 0.251 0.201 0.207 N c -0.829 -0.924 0.002 0.091 0.732 0.924 0 0.193 0.144 -0.537 0.062 0.801 0.324 0.000 0.063 0.002 0.062 9.938 0.405 . ENSG00000183323.8|ENSG00000197822.6|ENSG00000183323.8|ENSG00000183323.8|ENSG00000134058.6|ENSG00000183323.8|ENSG00000213830.3|ENSG00000153044.5|ENSG00000085231.9|ENSG00000253203.2|ENSG00000183323.8|ENSG00000213830.3|ENSG00000152942.14|ENSG00000085231.9|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000183323.8|ENSG00000213830.3|ENSG00000253203.2|ENSG00000183323.8|ENSG00000183323.8|ENSG00000134056.7|ENSG00000183323.8|ENSG00000085231.9|ENSG00000213830.3|ENSG00000183323.8|ENSG00000085231.9|ENSG00000213830.3 Adipose_Subcutaneous|Artery_Aorta|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5020 0.4169 0.5184 0.5256 0.4781 0.5856 0.4836 0.5150 0.5360 0.4832 0.4109 0.5120 0.5066 0.4708 0.5819 0.4991 0.5204 het 947.72 82 5 68715310 . C T 947.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.870;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9881;MQ=58.95;MQ0=0;MQRankSum=0.699;QD=11.56;ReadPosRankSum=1.230;VQSLOD=6.3221;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,37:82:99:978,0,1214 5 70307189 70307189 G A exonic NAIP nonsynonymous SNV NAIP:NM_001346870:exon5:c.C581T:p.T194M,NAIP:NM_004536:exon5:c.C581T:p.T194M 0.0004 . 0.0029 . . . 0.0002 0 0 0.0001 0.0002 0.0004 0 0 0.0002 . 0.0002 . . rs201023314 COSM3072328;COSM3072327 1(prostate) . . . . . . . . . . . 0.005 0.632 D 1.0 0.899 D 1.0 0.971 D . . . 0.999 0.470 D 1.185 0.302 L -0.68 0.726 T -1.85 0.446 N 0.248 0.303 -0.610 0.644 T 0.398 0.750 T 0.030 0.528 D 3.898 0.525 23.5 0.995 0.671 0.071 0.130 N c -0.371 -0.626 1.000 0.747 0.554 0.246 0 1.09 0.194 -0.397 0.073 0.841 0.343 0.002 0.151 0.767 0.326 10.447 0.435 . . . 0.0003 0 0 0 0.0001 4.512e-05 0.0006 0 0 0.0003 0.0005 0 0 0 0 0.0004 0 het 735.78 68 5 70307189 . G A 735.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.608;DP=68;Dels=0.00;FS=4.951;HRun=0;HaplotypeScore=3.6379;MQ=58.80;MQ0=0;MQRankSum=0.744;QD=10.82;ReadPosRankSum=-0.273;VQSLOD=3.6790;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,29:68:99:766,0,958 5 70308251 70308251 C T exonic NAIP synonymous SNV NAIP:NM_001346870:exon4:c.G492A:p.A164A,NAIP:NM_004536:exon4:c.G492A:p.A164A 0.87 0.98 0.87 0.9 0.73 0.85 0.8021 0.9501 0.8854 0.9029 0.8167 0.7495 0.7808 0.8049 0.82 0.95 0.75 0.88 0.7 rs28409706 COSM4159964;COSM4159963 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8009 0.9531 0.8738 0.6146 0.9057 0.8274 0.7537 0.7714 0.8037 0.8339 0.9508 0.8633 0.6443 0.9102 0.8208 0.7644 0.8043 hom 3825.60 124 5 70308251 . C T 3825.60 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7502;MQ=59.81;MQ0=0;QD=30.85;VQSLOD=8.7435;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3825,304,0 5 70751818 70751818 T G exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon1:c.T114G:p.D38E 0.78 0.56 0.85 0.89 0.83 0.86 0.8247 0.6045 0.9033 0.8875 0.8123 0.8333 0.8337 0.8303 0.77 0.63 0.83 0.71 0.73 rs3748043 COSM4408387 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.247 0.156 N 1.000 0.588 P -1.485 0.005 N 2.19 0.187 T 0.95 0.015 N 0.046 0.026 -0.989 0.330 T 0.000 0.000 T . . . -0.101 0.084 1.721 0.704 0.090 0.006 0.027 N c -1.271 -1.116 1.000 0.747 0.267 0.040 1 0.309 0.150 -0.747 0.049 -0.290 0.083 0.016 0.191 0.026 0.142 0.429 0.004 . ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.8311 0.5966 0.8989 0.8913 0.8851 0.8199 0.8304 0.8430 0.8287 0.7663 0.6040 0.8723 0.8940 0.8891 0.8130 0.8225 0.8493 hom 996 32 5 70751818 . T G 996 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.13;VQSLOD=13.8999;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.25:1029,81,0 5 70800538 70800538 G A exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon16:c.G2332A:p.V778M 0.43 0.39 0.34 0.38 0.49 0.56 0.4618 0.3795 0.2736 0.3796 0.5294 0.4867 0.4644 0.5574 0.45 0.37 0.48 0.4 0.37 rs3761967 COSM3761302 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.128 0.269 T 0.426 0.389 B 0.14 0.366 B 0.036 0.018 N 1 0.090 P 2.125 0.592 M 2.58 0.134 T -0.99 0.262 N 0.029 0.010 -0.948 0.413 T 0.000 0.000 T . . . -0.546 0.053 0.169 0.865 0.160 0.022 0.064 N c -1.169 -1.301 0.008 0.115 0.732 0.924 0 -3.44 0.045 0.016 0.132 -0.831 0.030 0.000 0.063 0.000 0.016 1.310 0.019 . ENSG00000145734.14|ENSG00000205565.6|ENSG00000131844.11|ENSG00000131844.11 Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts 0.4562 0.3779 0.2855 0.4824 0.3754 0.5361 0.4845 0.4629 0.5558 0.4474 0.3794 0.2835 0.5199 0.3667 0.5333 0.4810 0.4846 hom 1616.44 52 5 70800538 . G A 1616.44 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;QD=31.09;VQSLOD=8.6645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1649,132,0 5 70806649 70806649 T A exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon17:c.T3730A:p.F1244I 0.44 0.41 0.34 0.38 0.49 0.56 0.4632 0.3949 0.2742 0.3793 0.5292 0.4868 0.4644 0.5576 0.45 0.39 0.48 0.4 0.34 rs1961760 COSM1132128 1(haematopoietic_and_lymphoid_tissue);6(prostate);1(thyroid);2(large_intestine);1(thymus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.060 0.021 N 1 0.090 P -1.875 0.003 N 2.84 0.107 T 0.93 0.016 N 0.019 0.004 -0.918 0.458 T 0.000 0.000 T . . . -1.043 0.030 0.013 0.190 0.006 0.003 0.015 N c -1.792 -1.791 0.548 0.213 0.563 0.310 0 -4.49 0.032 -0.071 0.114 -1.733 0.007 0.000 0.063 0.000 0.016 3.264 0.064 . ENSG00000145734.14|ENSG00000131844.11|ENSG00000131844.11 Artery_Aorta|Brain_Cerebellum|Cells_Transformed_fibroblasts 0.4575 0.3929 0.2869 0.4823 0.3755 0.5364 0.4849 0.4626 0.5563 0.4523 0.3940 0.2825 0.5199 0.3695 0.5341 0.4816 0.4898 hom 3893.92 126 5 70806649 . T A 3893.92 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=30.90;VQSLOD=9.0527;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3893,313,0 5 70806711 70806711 C G exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon17:c.C3792G:p.I1264M 0.79 0.61 0.85 0.89 0.83 0.86 0.8254 0.6279 0.9034 0.8878 0.8123 0.8329 0.8344 0.8298 0.77 0.64 0.83 0.75 0.74 rs715747 COSM4407216 1(liver) . . . . . . . . . . . 0.475 0.083 T 0.0 0.026 B 0.0 0.013 B 0.302 0.040 N 1 0.090 P -0.55 0.024 N 2.79 0.112 T 0.32 0.040 N 0.023 0.006 -1.021 0.234 T 0.000 0.000 T . . . -0.335 0.066 0.551 0.100 0.001 0.000 0.003 N c -1.425 -1.398 0.039 0.144 0.707 0.730 0 0.726 0.173 -0.648 0.054 0.101 0.200 0.000 0.063 0.005 0.090 4.537 0.114 . ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8325 0.6237 0.8998 0.8913 0.8853 0.8201 0.8303 0.8447 0.8289 0.7735 0.6291 0.8747 0.8940 0.8883 0.8130 0.8228 0.8469 hom 4414.24 146 5 70806711 . C G 4414.24 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=30.23;VQSLOD=8.5661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:146:99:4414,334,0 5 70806958 70806958 G A exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon17:c.G4039A:p.V1347M 0.82 0.72 0.87 0.88 0.83 0.85 0.8343 0.7326 0.9103 0.8811 0.8122 0.8332 0.8419 0.8301 0.8 0.74 0.83 0.84 0.76 rs6886336 COSM4407110 1(liver) . . . . . . . . . . . 0.628 0.052 T 0.001 0.067 B 0.001 0.040 B 0.004 0.010 N 1 0.090 P 0.49 0.133 N 2.96 0.096 T 0.1 0.058 N 0.008 0.000 -1.004 0.287 T 0.000 0.000 T . . . -1.513 0.017 0.003 0.179 0.005 0.010 0.038 N c -2.153 -2.262 0.997 0.355 0.707 0.730 0 -6.46 0.017 -1.746 0.019 -2.445 0.003 0.000 0.063 0.000 0.016 8.131 0.300 . ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8394 0.7298 0.9047 0.8908 0.8781 0.8202 0.8304 0.8506 0.8290 0.8041 0.7367 0.8842 0.8940 0.8835 0.8133 0.8231 0.8513 hom 3580.89 125 5 70806958 . G A 3580.89 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.40;MQ0=0;QD=28.65;VQSLOD=7.9765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3580,274,0 5 70809169 70809169 A G exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon19:c.A4405G:p.K1469E 0.4 0.38 0.31 0.36 0.46 0.47 0.4265 0.3698 0.2298 0.3662 0.4944 0.4549 0.4378 0.4870 0.43 0.36 0.46 0.38 0.24 rs1698063 COSM3761304 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.266 0.162 T 0.001 0.273 B 0.002 0.223 B 0.916 0.085 N 1 0.090 P 0.69 0.170 N 3.01 0.091 T 0.39 0.035 N 0.033 0.013 -0.922 0.453 T 0.000 0.000 T . . . 0.218 0.115 4.872 0.693 0.087 0.002 0.009 N c -1.106 -1.110 0.003 0.097 0.563 0.310 0 2.1 0.261 1.010 0.293 -0.574 0.046 0.001 0.137 0.032 0.149 4.048 0.092 . ENSG00000145734.14|ENSG00000131844.11|ENSG00000131844.11 Artery_Aorta|Brain_Cerebellum|Cells_Transformed_fibroblasts 0.4213 0.3667 0.2429 0.4563 0.3605 0.5 0.4542 0.4360 0.4864 0.4203 0.3653 0.2482 0.4934 0.3473 0.4893 0.4509 0.4524 hom 5989.87 210 5 70809169 . A G 5989.87 Mask AC=2;AF=1.00;AN=2;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1095;MQ=58.24;MQ0=0;QD=28.52;VQSLOD=4.9924;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,209:210:99:5988,490,0 5 70837295 70837295 A C exonic BDP1 nonsynonymous SNV BDP1:NM_018429:exon29:c.A6037C:p.I2013L 0.82 0.72 0.87 0.89 0.83 0.86 0.8353 0.7335 0.9105 0.8877 0.8123 0.8330 0.8438 0.8334 0.8 0.74 0.83 0.83 0.74 rs6453014 COSM4408394 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.290 N 1 0.090 P -1.795 0.003 N 3.35 0.060 T 0.89 0.016 N 0.091 0.362 -1.030 0.205 T 0.000 0.000 T . . . -0.842 0.038 0.035 0.716 0.094 0.019 0.057 N c -1.368 -1.165 0.257 0.187 0.732 0.924 0 2.57 0.298 0.423 0.209 -0.355 0.069 0.990 0.367 0.303 0.238 3.357 0.067 . ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11|ENSG00000131844.11 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8400 0.7296 0.9086 0.8918 0.8860 0.8208 0.8313 0.8517 0.8327 0.8042 0.7362 0.8825 0.8933 0.8888 0.8155 0.8240 0.8498 hom 5082.77 163 5 70837295 . A C 5082.77 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.389;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5738;MQ=58.22;MQ0=0;MQRankSum=1.888;QD=31.18;ReadPosRankSum=0.933;VQSLOD=6.8678;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,161:163:99:5082,403,0 5 70840233 70840233 C T exonic BDP1 synonymous SNV BDP1:NM_018429:exon31:c.C6462T:p.L2154L 0.4 0.38 0.31 0.36 0.46 0.47 0.4266 0.3700 0.2296 0.3658 0.4950 0.4550 0.4388 0.4870 0.43 0.36 0.46 0.38 0.34 rs182190 COSM3761305 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4220 0.3672 0.2439 0.4578 0.3617 0.5005 0.4546 0.4374 0.4870 0.4221 0.3671 0.2506 0.4934 0.3488 0.4868 0.4528 0.4571 hom 4926.09 159 5 70840233 . C T 4926.09 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.98;VQSLOD=13.6900;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4926,379,0 5 70849021 70849021 G T exonic BDP1 synonymous SNV BDP1:NM_018429:exon35:c.G7074T:p.P2358P 0.43 0.39 0.34 0.38 0.49 0.56 0.4620 0.3802 0.2743 0.3796 0.5300 0.4867 0.4644 0.5573 0.45 0.37 0.48 0.4 0.32 rs469039 COSM3761306 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4561 0.3781 0.2861 0.4825 0.3753 0.5360 0.4844 0.4631 0.5559 0.4477 0.3800 0.2835 0.5167 0.3658 0.5333 0.4811 0.4867 hom 1703.68 54 5 70849021 . G T 1703.68 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;QD=31.55;VQSLOD=8.5809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1737,135,0 5 70945075 70945075 A G exonic MCCC2 synonymous SNV MCCC2:NM_022132:exon14:c.A1368G:p.A456A 0.85 0.68 0.87 0.98 0.85 0.94 0.8781 0.7010 0.9255 0.9838 0.8900 0.8696 0.8866 0.9298 0.81 0.71 0.87 0.81 0.87 rs10064079 COSM4407210 1(liver) Benign|Benign not_specified|3-MCC_Deficiency RCV000082093.5|RCV000333305.1 MedGen|MedGen CN169374|CN239165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8845 0.6994 0.9201 0.9103 0.9861 0.8960 0.8666 0.8852 0.9291 0.8332 0.7095 0.9045 0.9040 0.9864 0.8907 0.8663 0.8847 hom 3952.53 131 5 70945075 . A G 3952.53 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=58.72;MQ0=0;QD=30.17;VQSLOD=8.7227;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:3952,310,0 5 71492734 71492734 C T exonic MAP1B synonymous SNV MAP1B:NM_001324255:exon4:c.C3174T:p.N1058N,MAP1B:NM_005909:exon5:c.C3552T:p.N1184N 0.075 0.12 0.039 0.032 0.076 0.091 0.0824 0.1119 0.0408 0.0410 0.0795 0.0847 0.1046 0.1051 0.093 0.11 0.084 0.087 0.12 rs7716079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0796 0.1100 0.0424 0.0938 0.0430 0.0813 0.0845 0.0713 0.1032 0.0820 0.0973 0.0382 0.1033 0.0574 0.0847 0.0776 0.0733 het 1097.06 95 5 71492734 . C T 1097.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.656;DP=95;Dels=0.00;FS=6.638;HRun=0;HaplotypeScore=2.9948;MQ=59.21;MQ0=0;MQRankSum=0.213;QD=11.55;ReadPosRankSum=-0.410;VQSLOD=5.2032;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,43:95:99:1127,0,1254 5 71494906 71494906 G A exonic MAP1B synonymous SNV MAP1B:NM_001324255:exon4:c.G5346A:p.K1782K,MAP1B:NM_005909:exon5:c.G5724A:p.K1908K 0.082 0.1 0.046 0.032 0.12 0.097 0.1066 0.1106 0.0554 0.0414 0.1066 0.1223 0.1289 0.1101 0.12 0.11 0.12 0.087 0.11 rs61734262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1041 0.1073 0.0573 0.1776 0.0432 0.1075 0.1183 0.1110 0.1090 0.1015 0.0961 0.0561 0.1689 0.0569 0.1131 0.1075 0.1071 het 1237.48 92 5 71494906 . G A 1237.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.187;DP=92;Dels=0.00;FS=4.046;HRun=2;HaplotypeScore=10.7713;MQ=59.45;MQ0=0;MQRankSum=-0.695;QD=13.45;ReadPosRankSum=-0.250;VQSLOD=3.6037;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:46,45:92:99:1267,0,1329 5 71739602 71739602 G C exonic ZNF366 nonsynonymous SNV ZNF366:NM_152625:exon5:c.C2216G:p.A739G 0.072 0.06 0.039 0.071 0.096 0.089 0.0932 0.0681 0.0437 0.0806 0.0779 0.1097 0.0947 0.0888 0.091 0.059 0.11 0.043 0.12 rs13188519 COSM5904818 1(skin) . . . . . . . . . . . 0.014 0.531 D 0.546 0.361 P 0.141 0.320 B 0.001 0.414 D 0.539 0.320 D 1.935 0.520 L 2.89 0.102 T -0.87 0.236 N 0.093 0.092 -1.089 0.057 T 0.001 0.002 T . . . 4.340 0.581 24.0 0.996 0.750 0.972 0.730 D c 0.283 0.439 1.000 0.747 0.554 0.283 0 5.87 0.942 4.356 0.590 0.137 0.221 1.000 0.715 0.997 0.653 16.112 0.810 . . . 0.0897 0.0657 0.0438 0.1108 0.0770 0.0771 0.1096 0.0914 0.0882 0.0855 0.0641 0.0480 0.1093 0.0993 0.0853 0.0964 0.1100 hom 1227.64 44 5 71739602 . G C 1227.64 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.74;MQ0=0;QD=27.90;VQSLOD=8.1628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:93.30:1261,93,0 5 71756102 71756102 G A exonic ZNF366 synonymous SNV ZNF366:NM_152625:exon2:c.C1222T:p.L408L 0.53 0.5 0.41 0.86 0.34 0.5 0.4100 0.5043 0.4542 0.8534 0.3226 0.3248 0.4425 0.4644 0.39 0.51 0.33 0.45 0.38 rs7721922 COSM1178497 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4108 0.5071 0.4459 0.3522 0.8550 0.3251 0.3265 0.4077 0.4629 0.4102 0.5106 0.4498 0.3179 0.8399 0.3199 0.3296 0.3574 het 1280.70 94 5 71756102 . G A 1280.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.542;DP=94;Dels=0.00;FS=5.584;HRun=1;HaplotypeScore=1.6553;MQ=59.26;MQ0=0;MQRankSum=0.616;QD=13.62;ReadPosRankSum=-1.327;VQSLOD=5.5620;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,48:94:99:1311,0,1256 5 71756896 71756896 T C exonic ZNF366 nonsynonymous SNV ZNF366:NM_152625:exon2:c.A428G:p.E143G 0.006 . 0.0029 . 0.018 0.01 0.0118 0.0037 0.0035 0.0001 0.0129 0.0160 0.0121 0.0110 0.013 0.0039 0.017 . 0.041 rs143061545 . . . . . . . . . . . . . 0.002 0.721 D 0.016 0.161 B 0.007 0.121 B 0.000 0.629 D 0.974 0.391 D 2.32 0.666 M 0.89 0.456 T -2.29 0.510 N 0.096 0.097 -1.081 0.072 T 0.041 0.178 T . . . 3.657 0.497 23.2 0.998 0.924 0.901 0.507 D c -0.305 -0.151 1.000 0.747 0.554 0.283 0 4.75 0.598 1.865 0.389 0.033 0.151 0.989 0.365 0.254 0.228 12.286 0.539 . . . 0.0118 0.0026 0.0034 0.0087 0 0.0137 0.0175 0.0097 0.0112 0.0110 0.0039 0.0024 0.0033 0 0.0152 0.0156 0.0163 het 2837.83 250 5 71756896 . T C 2837.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.514;DP=250;DS;Dels=0.00;FS=3.691;HRun=2;HaplotypeScore=7.0729;MQ=59.37;MQ0=0;MQRankSum=0.892;QD=11.35;ReadPosRankSum=1.079;VQSLOD=2.9750;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:2868,0,3571 5 72184098 72184098 C T exonic TNPO1 synonymous SNV TNPO1:NM_002270:exon13:c.C1497T:p.D499D,TNPO1:NM_153188:exon13:c.C1473T:p.D491D 0.8 0.74 0.84 0.86 0.87 0.74 0.8318 0.7596 0.8144 0.8460 0.8684 0.8614 0.8146 0.7486 0.82 0.75 0.85 0.81 0.78 rs17606 COSM4407621 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8312 0.7539 0.8178 0.8132 0.8432 0.8699 0.8608 0.8406 0.7465 0.8295 0.7528 0.8325 0.8113 0.8470 0.8711 0.8613 0.8480 hom 4569.34 150 5 72184098 . C T 4569.34 Mask AC=2;AF=1.00;AN=2;DP=150;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7480;MQ=59.44;MQ0=0;QD=30.46;VQSLOD=8.5876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4568,376,0 5 72348272 72348272 A G exonic FCHO2 nonsynonymous SNV FCHO2:NM_001146032:exon12:c.A1012G:p.M338V,FCHO2:NM_138782:exon13:c.A1111G:p.M371V 0.26 0.46 0.17 0.17 0.13 0.27 0.2482 0.4490 0.2911 0.2502 0.1766 0.1960 0.2536 0.2997 0.23 0.41 0.15 0.22 . rs185435 . . . . . . . . . . . . . 0.304 0.144 T 0.002 0.163 B 0.004 0.121 B 0.121 0.190 N 0.998 0.226 P 0.93 0.236 L 2.33 0.165 T -0.09 0.085 N 0.076 0.072 -0.906 0.473 T 0.000 0.000 T . . . 0.161 0.109 4.260 0.583 0.058 0.177 0.198 N c -0.868 -0.800 0.000 0.029 0.732 0.924 0 -1.4 0.085 0.688 0.249 -0.114 0.115 0.250 0.246 0.990 0.544 6.281 0.201 . ENSG00000157107.9|ENSG00000157107.9|ENSG00000157107.9 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.1850 0.4142 0.1898 0.2124 0.2022 0.1294 0.1388 0.1662 0.2633 0.2252 0.4238 0.1859 0.2053 0.2059 0.1297 0.1412 0.1585 het 151.23 19 5 72348272 . A G 151.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.479;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;MQRankSum=1.817;QD=7.96;ReadPosRankSum=-1.733;VQSLOD=5.0546;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:181,0,313 5 72419267 72419267 T C exonic TMEM171 nonsynonymous SNV TMEM171:NM_001161342:exon2:c.T67C:p.F23L,TMEM171:NM_173490:exon2:c.T67C:p.F23L 0.17 0.086 0.35 0.096 0.29 0.11 0.2496 0.1102 0.3867 0.0900 0.2589 0.2919 0.2522 0.1493 0.23 0.12 0.28 0.18 0.19 rs638333 COSM4003581;COSM4999932 1(breast);1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.05 0.518 D 0.087 0.234 B 0.027 0.198 B 0.000 0.559 N 0.004 0.432 P 2.65 0.778 M 1.38 0.340 T -4.35 0.769 D 0.163 0.207 -1.029 0.208 T 0.000 0.000 T . . . 5.587 0.760 26.5 0.999 0.953 0.872 0.464 D c 0.079 0.187 1.000 0.747 0.507 0.198 0 5.09 0.685 5.395 0.658 0.986 0.600 1.000 0.715 0.997 0.653 14.870 0.700 . ENSG00000157107.9|ENSG00000157111.8|ENSG00000157111.8|ENSG00000157111.8 Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Brain_Hippocampus|Colon_Transverse 0.2570 0.1106 0.3845 0.2596 0.0871 0.2602 0.2925 0.2717 0.1508 0.2144 0.1105 0.3672 0.2285 0.0858 0.2590 0.2657 0.2755 het 1728.33 152 5 72419267 . T C 1728.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.882;DP=152;Dels=0.00;FS=2.926;HRun=1;HaplotypeScore=4.5391;MQ=59.33;MQ0=0;MQRankSum=0.998;QD=11.37;ReadPosRankSum=-2.545;VQSLOD=4.5146;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,67:152:99:1758,0,2426 5 72419410 72419410 A G exonic TMEM171 synonymous SNV TMEM171:NM_001161342:exon2:c.A210G:p.G70G,TMEM171:NM_173490:exon2:c.A210G:p.G70G 1. 1. 1. 1. 1. 1. 0.9997 0.9998 0.9999 1 1 0.9995 1 1 1. 1. 1. 1. 0.98 rs7731777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9998 1.0000 1 1 1 0.9994 0.9996 1 0.9996 0.9999 0.9976 1 1 1 0.9994 1 hom 3011.32 88 5 72419410 . A G 3011.32 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8533;MQ=59.48;MQ0=0;QD=34.22;VQSLOD=8.5117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:3044,244,0 5 72419617 72419617 C A exonic TMEM171 nonsynonymous SNV TMEM171:NM_001161342:exon2:c.C417A:p.N139K,TMEM171:NM_173490:exon2:c.C417A:p.N139K 0.45 0.57 0.33 0.59 0.27 0.41 0.3235 0.5324 0.3161 0.5970 0.2536 0.2507 0.2965 0.3773 0.34 0.53 0.25 0.39 0.3 rs636926 COSM4159974 1(thyroid) . . . . . . . . . . . 0.159 0.238 T 0.02 0.170 B 0.023 0.188 B 0.107 0.196 N 1.000 0.203 P 0.345 0.112 N 1.98 0.219 T -1.61 0.387 N 0.012 0.001 -0.956 0.400 T 0.000 0.000 T . . . 0.966 0.186 10.47 0.955 0.266 0.091 0.147 N c -1.013 -0.933 1.000 0.517 0.653 0.482 0 1.2 0.201 0.327 0.193 -0.319 0.077 0.070 0.219 0.031 0.148 2.939 0.054 . ENSG00000157107.9 Nerve_Tibial 0.3193 0.5392 0.3140 0.2617 0.5944 0.2596 0.2509 0.2802 0.3775 0.3587 0.5229 0.3222 0.2417 0.5788 0.2636 0.2704 0.2953 het 2229.32 182 5 72419617 . C A 2229.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.900;DP=182;Dels=0.00;FS=1.163;HRun=2;HaplotypeScore=9.3048;MQ=58.91;MQ0=0;MQRankSum=2.760;QD=12.25;ReadPosRankSum=0.888;VQSLOD=3.6512;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,82:182:99:2259,0,2683 5 72427404 72427404 C G exonic TMEM171 nonsynonymous SNV TMEM171:NM_001161342:exon4:c.C819G:p.D273E,TMEM171:NM_173490:exon4:c.C822G:p.D274E 0.031 0.0045 0.029 0.001 0.086 0.045 0.0649 0.0142 0.0347 0.0016 0.1030 0.0841 0.0843 0.0572 0.056 0.016 0.076 . 0.041 rs61746311 COSM4407421;COSM4407422 1(liver) . . . . . . . . . . . 0.189 0.212 T 0.002 0.090 B 0.004 0.093 B 0.487 0.121 N 1 0.090 N 1.01 0.254 L 1.79 0.255 T -2.06 0.471 N 0.033 0.013 -1.082 0.070 T 0.003 0.008 T . . . -1.315 0.022 0.004 0.628 0.069 0.010 0.036 N c -1.820 -2.008 1.000 0.747 0.706 0.609 0 -10.1 0.003 -4.261 0.003 -1.247 0.015 0.000 0.063 0.000 0.016 5.660 0.168 . . . 0.0660 0.0145 0.0390 0.1073 0.0006 0.1014 0.0831 0.0780 0.0549 0.0626 0.0163 0.0443 0.0861 0.0006 0.1022 0.0864 0.0794 het 1306.60 96 5 72427404 . C G 1306.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.452;DP=96;Dels=0.00;FS=1.662;HRun=0;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;MQRankSum=-0.474;QD=13.61;ReadPosRankSum=-0.783;VQSLOD=6.1696;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,52:96:99:1337,0,1210 5 73072354 73072354 T C exonic ARHGEF28 nonsynonymous SNV ARHGEF28:NM_001080479:exon6:c.T673C:p.W225R,ARHGEF28:NM_001177693:exon6:c.T673C:p.W225R 0.37 0.34 0.37 0.32 0.46 0.38 0.4284 0.3667 0.4378 0.3234 0.4729 0.4556 0.4431 0.3842 0.42 0.36 0.45 0.33 . rs7714670 COSM450035;COSM450036 1(urinary_tract);1(large_intestine) Benign not_specified RCV000243131.1 MedGen CN169374 . . . . . . 0.883 0.026 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.795 0.003 N 3.38 0.058 T 0.51 0.029 N 0.067 0.054 -0.947 0.415 T 0.000 0.000 T . . . -1.015 0.031 0.015 0.459 0.036 0.005 0.024 N c -1.648 -1.523 0.947 0.277 0.722 0.854 0 0.823 0.179 0.243 0.177 -0.651 0.041 0.000 0.063 0.045 0.161 4.501 0.112 . . . 0.4273 0.3636 0.4246 0.3899 0.3284 0.4706 0.4585 0.4286 0.3846 0.4246 0.375 0.4296 0.3874 0.3342 0.4799 0.4494 0.4447 hom 3564.80 108 5 73072354 . T C 3564.80 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3002;MQ=59.79;MQ0=0;QD=33.01;VQSLOD=9.4421;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3564,289,0 5 73090261 73090261 T C exonic ARHGEF28 synonymous SNV ARHGEF28:NM_001080479:exon8:c.T945C:p.A315A,ARHGEF28:NM_001177693:exon8:c.T945C:p.A315A 0.61 0.82 0.53 0.53 0.51 0.58 0.6060 0.8043 0.6600 0.5815 0.5898 0.5737 0.6033 0.5891 0.6 0.79 0.52 0.53 . rs7716253 COSM3761314;COSM3761313 1(large_intestine) Benign not_specified RCV000242791.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5515 0.8002 0.5916 0.4450 0.5366 0.5505 0.5187 0.5261 0.5527 0.5965 0.7955 0.5778 0.4338 0.5337 0.5512 0.5066 0.5307 hom 642.56 24 5 73090261 . T C 642.56 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.77;VQSLOD=13.8967;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:51.16:676,51,0 5 73181913 73181913 T C exonic ARHGEF28 synonymous SNV ARHGEF28:NM_001244364:exon17:c.T2355C:p.A785A,ARHGEF28:NM_001080479:exon25:c.T3294C:p.A1098A,ARHGEF28:NM_001177693:exon25:c.T3294C:p.A1098A 0.016 . 0.019 0.001 0.059 0.0092 0.0374 0.0073 0.0186 0 0.0523 0.0545 0.0497 0.0121 0.038 0.006 0.053 0.011 . rs61734875 . . Benign not_specified RCV000245569.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0390 0.0071 0.0212 0.1193 0 0.0515 0.0523 0.0427 0.0121 0.0356 0.0084 0.0251 0.1225 0 0.0592 0.0478 0.0490 het 1078.16 88 5 73181913 . T C 1078.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.986;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9526;MQ=58.81;MQ0=0;MQRankSum=0.234;QD=12.25;ReadPosRankSum=1.185;VQSLOD=5.5137;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,42:88:99:1108,0,1133 5 73207372 73207372 T A exonic ARHGEF28 nonsynonymous SNV ARHGEF28:NM_001244364:exon27:c.T3981A:p.H1327Q,ARHGEF28:NM_001080479:exon35:c.T4920A:p.H1640Q,ARHGEF28:NM_001177693:exon35:c.T4920A:p.H1640Q 0.3 0.38 0.22 0.22 0.42 0.22 0.3809 0.4015 0.2277 0.2687 0.3774 0.4468 0.3566 0.2407 0.38 0.36 0.4 0.34 . rs1478453 COSM4880437;COSM4880438 1(prostate) Benign not_specified RCV000245791.1 MedGen CN169374 . . . . . . 0.576 0.061 T 0.001 0.119 B 0.001 0.080 B 0.826 0.069 N 1 0.090 P 1.06 0.271 L 3.28 0.280 T 0.49 0.030 N 0.041 0.021 -0.932 0.439 T 0.000 0.000 T . . . -0.039 0.090 2.224 0.477 0.039 0.030 0.078 N c -1.755 -1.720 1.000 0.422 0.707 0.730 0 -1.84 0.073 -0.484 0.066 -1.999 0.005 0.001 0.137 0.547 0.279 0.851 0.011 . . . 0.3293 0.3694 0.1876 0.4805 0.2284 0.3415 0.3987 0.3455 0.2111 0.3697 0.3776 0.2172 0.4664 0.2382 0.3466 0.3914 0.3694 het 303.33 28 5 73207372 . T A 303.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.830;DP=28;Dels=0.00;FS=1.792;HRun=1;HaplotypeScore=0.9734;MQ=59.33;MQ0=0;MQRankSum=-1.091;QD=10.83;ReadPosRankSum=0.255;VQSLOD=6.0999;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:333,0,423 5 73930751 73930751 C T exonic ENC1 synonymous SNV ENC1:NM_001256576:exon2:c.G1341A:p.K447K,ENC1:NM_003633:exon2:c.G1560A:p.K520K,ENC1:NM_001256574:exon3:c.G1560A:p.K520K,ENC1:NM_001256575:exon3:c.G1560A:p.K520K 0.62 0.53 0.75 0.62 0.69 0.57 0.6427 0.5580 0.7674 0.6544 0.6129 0.6541 0.6512 0.5680 0.62 0.55 0.65 0.6 0.66 rs300239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6503 0.5578 0.7660 0.7323 0.6506 0.6168 0.6491 0.6647 0.5701 0.6103 0.5542 0.7566 0.7517 0.6569 0.6194 0.6243 0.6153 het 1757.58 142 5 73930751 . C T 1757.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.280;DP=142;Dels=0.00;FS=4.085;HRun=2;HaplotypeScore=8.3093;MQ=58.96;MQ0=0;MQRankSum=1.803;QD=12.38;ReadPosRankSum=-0.043;VQSLOD=4.1372;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,64:142:99:1788,0,2007 5 73931246 73931246 T C exonic ENC1 synonymous SNV ENC1:NM_001256576:exon2:c.A846G:p.S282S,ENC1:NM_003633:exon2:c.A1065G:p.S355S,ENC1:NM_001256574:exon3:c.A1065G:p.S355S,ENC1:NM_001256575:exon3:c.A1065G:p.S355S 0.75 0.86 0.82 0.62 0.81 0.65 0.7583 0.8501 0.8141 0.6580 0.7282 0.7746 0.7472 0.6608 0.8 0.84 0.78 0.77 0.78 rs442425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7599 0.8520 0.8180 0.8134 0.6531 0.7238 0.7744 0.7673 0.6655 0.7744 0.8409 0.8146 0.8344 0.6571 0.7312 0.7573 0.7377 hom 4856.31 154 5 73931246 . T C 4856.31 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.350;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9638;MQ=59.57;MQ0=0;MQRankSum=-0.427;QD=31.53;ReadPosRankSum=0.112;VQSLOD=9.5876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,153:154:99:4824,363,0 5 73981270 73981270 T C exonic HEXB nonsynonymous SNV HEXB:NM_000521:exon1:c.T185C:p.L62S 0.98 1. 0.98 1. 0.96 0.96 0.9708 0.9923 0.9834 0.9999 0.9789 0.9620 0.9725 0.9659 0.97 0.99 0.96 0.12 0.68 rs820878 COSM450042 1(thyroid);1(large_intestine) Pathogenic\x2cBenign Sandhoff_disease\x2c_infantile_type\x2cnot_specified RCV000004086.3\x2cRCV000153357.2 MedGen\x2cMedGen C1849322\x2cCN169374 . . . . . . 1.0 0.010 T . . . . . . 0.013 0.290 N 1 0.211 P . . . -0.42 0.695 T 2.73 0.002 N 0.063 0.234 -0.909 0.469 T 0.000 0.000 T . . . -0.640 0.048 0.100 0.703 0.090 0.000 0.004 N c -0.764 -0.847 1.000 0.747 0.733 0.969 0 3.99 0.454 0.769 0.261 -0.093 0.117 0.001 0.137 0.006 0.095 8.757 0.336 Beta-hexosaminidase\x2c eukaryotic type\x2c N-terminal|Chitobiase/beta-hexosaminidase domain 2-like . . 0.9716 0.9930 0.9831 0.9722 0.9998 0.9795 0.9603 0.9690 0.9668 0.9739 0.9924 0.9833 0.9765 1 0.9813 0.9589 0.9575 hom 1131.21 36 5 73981270 . T C 1131.21 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=31.42;VQSLOD=9.1561;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:96.28:1164,96,0 5 74021847 74021852 ACTCAA - exonic GFM2 nonframeshift deletion GFM2:NM_170691:exon17:c.1685_1690del:p.F562_E563del,GFM2:NM_032380:exon18:c.1826_1831del:p.F609_E610del,GFM2:NM_001281302:exon19:c.1922_1927del:p.F641_E642del 0.38 0.76 0.34 0.2 0.24 0.24 0.2691 0.6872 0.3582 0.1899 0.1660 0.2210 0.2489 0.2219 . . . . . rs5868753 COSM5713114 1(large_intestine);4(central_nervous_system) Benign not_specified RCV000199019.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2563 0.6945 0.3438 0.2577 0.1901 0.1587 0.2119 0.2627 0.2092 0.3337 0.6702 0.3614 0.24 0.2030 0.1536 0.2054 0.2156 het 1251.75 91 5 74021846 . TACTCAA T 1251.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.091;DP=91;FS=6.160;HRun=0;HaplotypeScore=523.1682;MQ=52.79;MQ0=0;MQRankSum=-5.355;QD=13.76;ReadPosRankSum=-1.195;set=variant2 GT:AD:DP:GQ:PL 0/1:64,27:91:99:1291,0,5714 5 74046464 74046464 C T exonic GFM2 synonymous SNV GFM2:NM_032380:exon7:c.G459A:p.E153E,GFM2:NM_170681:exon7:c.G459A:p.E153E,GFM2:NM_170691:exon7:c.G459A:p.E153E,GFM2:NM_001281302:exon8:c.G555A:p.E185E 0.18 0.25 0.2 0.19 0.1 0.16 0.1320 0.2291 0.2710 0.1795 0.0531 0.0969 0.125 0.1261 0.14 0.21 0.098 0.17 0.098 rs17852781 COSM3761322 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000125232.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1313 0.2240 0.2533 0.1106 0.1812 0.0524 0.0952 0.1244 0.1205 0.1347 0.2231 0.2566 0.0695 0.1859 0.0487 0.0950 0.0949 het 1076.78 89 5 74046464 . C T 1076.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.273;DP=89;Dels=0.00;FS=7.317;HRun=1;HaplotypeScore=1.8730;MQ=59.20;MQ0=0;MQRankSum=-0.062;QD=12.10;ReadPosRankSum=-0.283;VQSLOD=4.4305;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,43:89:99:1107,0,1159 5 74069863 74069863 A G exonic NSA2 synonymous SNV NSA2:NM_014886:exon5:c.A693G:p.T231T 0.38 0.75 0.34 0.21 0.24 0.24 0.2716 0.6847 0.3588 0.2029 0.1671 0.2220 0.2528 0.2286 0.37 0.67 0.22 0.48 0.34 rs6874609 COSM3761323 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2663 0.6899 0.3549 0.2793 0.2047 0.1662 0.2202 0.2740 0.2282 0.3391 0.6773 0.3699 0.2450 0.2108 0.1552 0.2077 0.2147 het 1758.30 180 5 74069863 . A G 1758.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.235;DP=180;Dels=0.00;FS=1.919;HRun=0;HaplotypeScore=3.8433;MQ=59.32;MQ0=0;MQRankSum=0.306;QD=9.77;ReadPosRankSum=0.792;VQSLOD=6.0596;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,73:180:99:1788,0,2622 5 75427935 75427935 G A exonic SV2C synonymous SNV SV2C:NM_001297716:exon2:c.G360A:p.R120R,SV2C:NM_014979:exon2:c.G360A:p.R120R 0.47 0.26 0.45 0.32 0.74 0.66 0.6329 0.3185 0.3677 0.3253 0.6833 0.7503 0.6514 0.6694 0.63 0.35 0.76 0.39 0.64 rs10070440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6266 0.3146 0.3877 0.7355 0.3306 0.6844 0.7545 0.6553 0.6634 0.6032 0.3317 0.4330 0.7715 0.3319 0.7062 0.7671 0.6813 hom 4142.77 137 5 75427935 . G A 4142.77 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.707;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7352;MQ=59.25;MQ0=0;MQRankSum=-1.732;QD=30.24;ReadPosRankSum=0.102;VQSLOD=8.3506;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,136:137:99:4142,340,0 5 75884734 75884734 G A exonic IQGAP2 synonymous SNV IQGAP2:NM_001285460:exon5:c.G312A:p.L104L,IQGAP2:NM_006633:exon6:c.G462A:p.L154L 0.7 0.76 0.67 0.75 0.49 0.79 0.5752 0.7066 0.7080 0.7356 0.4780 0.4806 0.5551 0.7368 0.55 0.7 0.48 0.73 0.39 rs1131232 COSM4159989 1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5743 0.7105 0.6915 0.5783 0.7376 0.4811 0.4711 0.5563 0.7363 0.5561 0.7042 0.6575 0.5960 0.7658 0.4685 0.4638 0.5102 hom 2072.07 74 5 75884734 . G A 2072.07 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.43;MQ0=0;QD=28.00;VQSLOD=7.1796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2105,163,0 5 75923285 75923285 C T exonic IQGAP2 synonymous SNV IQGAP2:NM_001285461:exon3:c.C231T:p.A77A,IQGAP2:NM_001285462:exon3:c.C231T:p.A77A,IQGAP2:NM_001285460:exon13:c.C1422T:p.A474A,IQGAP2:NM_006633:exon14:c.C1572T:p.A524A 0.54 0.54 0.49 0.47 0.59 0.61 0.5529 0.5392 0.4050 0.4838 0.5703 0.5764 0.5617 0.5987 0.56 0.54 0.58 0.54 0.55 rs2431351 COSM149858 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5475 0.5404 0.4182 0.6005 0.4702 0.5601 0.5768 0.5598 0.5979 0.5545 0.5402 0.4737 0.5927 0.4577 0.5651 0.5736 0.5684 het 2826.85 245 5 75923285 . C T 2826.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.487;DP=245;DS;Dels=0.00;FS=4.464;HRun=0;HaplotypeScore=5.6196;MQ=58.39;MQ0=0;MQRankSum=-0.592;QD=11.54;ReadPosRankSum=-0.387;VQSLOD=4.7401;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,110:245:99:2857,0,3545 5 75923294 75923294 T G exonic IQGAP2 nonsynonymous SNV IQGAP2:NM_001285461:exon3:c.T240G:p.D80E,IQGAP2:NM_001285462:exon3:c.T240G:p.D80E,IQGAP2:NM_001285460:exon13:c.T1431G:p.D477E,IQGAP2:NM_006633:exon14:c.T1581G:p.D527E 0.9 0.94 0.73 0.86 0.96 0.96 0.9132 0.9274 0.6379 0.8848 0.9209 0.9498 0.9306 0.9603 0.95 0.93 0.95 0.9 0.96 rs2431352 . . . . . . . . . . . . . 0.942 0.056 T 0.0 0.026 B 0.001 0.040 B 0.062 0.221 N 1.000 0.191 P -1.06 0.011 N 1.67 0.273 T 0.1 0.070 N 0.068 0.114 -0.964 0.384 T 0.000 0.000 T . . . -1.396 0.019 0.003 0.515 0.045 0.138 0.179 N c -1.507 -1.353 0.991 0.324 0.732 0.924 0 -1.2 0.090 0.715 0.253 -0.794 0.032 1.000 0.715 0.008 0.104 0.239 0.002 Calponin homology domain . . 0.9051 0.9293 0.6632 0.9705 0.8820 0.9229 0.9517 0.9153 0.9599 0.9276 0.9267 0.7076 0.9702 0.8722 0.9195 0.9479 0.9224 hom 7760.84 247 5 75923294 . T G 7760.84 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0818;MQ=58.12;MQ0=0;QD=31.42;VQSLOD=4.0542;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:247:99:7760,599,0 5 75923307 75923307 A G exonic IQGAP2 nonsynonymous SNV IQGAP2:NM_001285461:exon3:c.A253G:p.K85E,IQGAP2:NM_001285462:exon3:c.A253G:p.K85E,IQGAP2:NM_001285460:exon13:c.A1444G:p.K482E,IQGAP2:NM_006633:exon14:c.A1594G:p.K532E 1. 1. 1. 1. 1. 1. 0.9998 0.9998 0.9998 1 0.9998 0.9997 0.9978 1 1. 1. 1. 1. 0.97 rs2909888 . . . . . . . . . . . . . 0.631 0.088 T 0.0 0.026 B 0.001 0.040 B 0.955 0.077 N 1 0.090 P 0.02 0.080 N 1.6 0.286 T 0.4 0.036 N 0.251 0.397 -0.995 0.314 T 0.000 0.000 T . . . -1.339 0.021 0.004 0.393 0.027 0.016 0.052 N c -1.587 -1.645 0.999 0.387 0.732 0.924 0 -4.28 0.035 -0.267 0.086 -0.570 0.046 0.001 0.137 0.001 0.043 4.447 0.109 Calponin homology domain . . 0.9997 0.9997 0.9998 0.9998 1 0.9999 0.9995 0.9996 1.0000 0.9997 1 0.9976 1 1 1 0.9996 0.9990 hom 7318 244 5 75923307 . A G 7318 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6995;MQ=58.29;MQ0=0;QD=29.99;VQSLOD=8.3579;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,244:244:99:7316,593,0 5 75932869 75932869 C T exonic IQGAP2 synonymous SNV IQGAP2:NM_001285461:exon5:c.C450T:p.D150D,IQGAP2:NM_001285462:exon5:c.C450T:p.D150D,IQGAP2:NM_001285460:exon15:c.C1641T:p.D547D,IQGAP2:NM_006633:exon16:c.C1791T:p.D597D 0.55 0.54 0.49 0.47 0.61 0.62 0.5625 0.5470 0.4140 0.4857 0.5727 0.5895 0.5765 0.6022 0.58 0.55 0.59 0.54 0.57 rs2910819 COSM149859 1(stomach);1(large_intestine) . . . . . . . . . . . 0.003 0.682 D . . . . . . . . . 0.000 0.588 P . . . 1.17 0.379 T -0.72 0.204 N . . -0.934 0.436 T 0.000 0.000 T . . . 1.814 0.279 15.07 0.996 0.755 0.498 0.283 N c -0.352 -0.337 0.988 0.312 0.706 0.609 0 0.504 0.161 1.372 0.336 -0.121 0.113 1.000 0.715 0.717 0.313 6.178 0.195 . . . 0.5554 0.5470 0.4263 0.6159 0.4706 0.5623 0.5895 0.5680 0.5937 0.5631 0.5498 0.4880 0.6233 0.4588 0.5668 0.5833 0.5745 het 761.59 91 5 75932869 . C T 761.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.524;DP=91;Dels=0.00;FS=1.879;HRun=0;HaplotypeScore=4.8535;MQ=59.06;MQ0=0;MQRankSum=0.153;QD=8.37;ReadPosRankSum=0.541;VQSLOD=5.2664;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,33:91:99:792,0,1491 5 75932965 75932965 G C exonic IQGAP2 nonsynonymous SNV IQGAP2:NM_001285461:exon5:c.G546C:p.L182F,IQGAP2:NM_001285462:exon5:c.G546C:p.L182F,IQGAP2:NM_001285460:exon15:c.G1737C:p.L579F,IQGAP2:NM_006633:exon16:c.G1887C:p.L629F 0.55 0.55 0.49 0.47 0.61 0.62 0.5627 0.5568 0.4148 0.4862 0.5732 0.5893 0.5782 0.5972 0.58 0.56 0.59 0.56 0.58 rs2455230 COSM149860 1(haematopoietic_and_lymphoid_tissue);2(stomach) . . . . . . . . . . . 0.706 0.123 T 0.071 0.224 B 0.213 0.357 B 0.696 0.062 N 1 0.090 P 2.47 0.719 M 0.17 0.605 T -1.65 0.402 N 0.2 0.290 -0.909 0.470 T 0.000 0.000 T . . . -0.045 0.089 2.175 0.952 0.258 0.060 0.118 N c -1.005 -1.060 0.987 0.312 0.706 0.609 0 0.233 0.146 0.227 0.174 0.103 0.200 0.000 0.063 0.703 0.310 4.889 0.130 Calponin homology domain . . 0.5567 0.5574 0.4290 0.6171 0.4724 0.5620 0.5899 0.5704 0.5949 0.5658 0.5609 0.4857 0.6258 0.4556 0.5662 0.5830 0.5746 het 922 90 5 75932965 . G C 922 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DP=90;Dels=0.00;FS=6.995;HRun=0;HaplotypeScore=0.0000;MQ=58.79;MQ0=0;MQRankSum=-0.226;QD=10.24;ReadPosRankSum=0.334;VQSLOD=4.2492;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,36:90:99:952,0,1595 5 75960865 75960865 T C exonic IQGAP2 synonymous SNV IQGAP2:NM_001285461:exon10:c.T1032C:p.H344H,IQGAP2:NM_001285462:exon10:c.T1032C:p.H344H,IQGAP2:NM_001285460:exon21:c.T2394C:p.H798H,IQGAP2:NM_006633:exon22:c.T2544C:p.H848H 0.96 0.95 0.96 0.92 0.99 0.99 0.9842 0.9618 0.9670 0.9169 0.9988 0.9955 0.9878 0.9936 0.98 0.96 1. 0.96 0.77 rs253093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9839 0.9592 0.9660 0.9999 0.9181 0.9993 0.9953 0.9876 0.9937 0.9818 0.9612 0.9749 1 0.9069 0.9991 0.9973 0.9908 hom 926.28 28 5 75960865 . T C 926.28 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.08;VQSLOD=14.2153;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:28:75.24:959,75,0 5 75967722 75967722 C T exonic IQGAP2 synonymous SNV IQGAP2:NM_001285461:exon12:c.C1470T:p.D490D,IQGAP2:NM_001285462:exon12:c.C1470T:p.D490D,IQGAP2:NM_001285460:exon23:c.C2832T:p.D944D,IQGAP2:NM_006633:exon24:c.C2982T:p.D994D 0.0026 . 0.0058 . 0.0089 . 0.0078 0.0014 0.0084 0 0.0150 0.0106 0.0100 0.0013 0.0065 0.0016 0.009 . 0.0082 rs76979655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0082 0.0010 0.0063 0.0286 0 0.0138 0.0098 0.0128 0.0016 0.0075 0.0014 0.0036 0.0430 0 0.0120 0.0102 0.0082 het 757.93 82 5 75967722 . C T 757.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.003;DP=82;Dels=0.00;FS=5.931;HRun=0;HaplotypeScore=3.8814;MQ=58.93;MQ0=0;MQRankSum=1.214;QD=9.24;ReadPosRankSum=0.784;VQSLOD=4.0036;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,31:82:99:788,0,1230 5 75996909 75996909 G A exonic IQGAP2 nonsynonymous SNV IQGAP2:NM_001285461:exon22:c.G2864A:p.R955Q,IQGAP2:NM_001285462:exon22:c.G2864A:p.R955Q,IQGAP2:NM_001285460:exon33:c.G4226A:p.R1409Q,IQGAP2:NM_006633:exon34:c.G4376A:p.R1459Q 0.014 0.0008 0.023 . 0.045 0.0082 0.0259 0.0062 0.0133 0 0.0415 0.0371 0.0254 0.0093 0.031 0.0084 0.043 0.011 0.016 rs34592828 . . . . . . . . . . . . . 0.063 0.531 T 0.119 0.419 B 0.034 0.400 B 0.000 0.454 D 1 0.810 D 2.42 0.702 M 0.96 0.429 T -1.8 0.448 N 0.307 0.669 -0.979 0.352 T 0.041 0.174 T . . . 5.589 0.761 26.5 0.999 0.996 0.932 0.574 D c 0.279 0.352 1.000 0.747 0.706 0.609 0 4.58 0.559 7.585 0.817 1.048 0.713 1.000 0.715 0.766 0.326 15.147 0.722 Ras GTPase-activating protein|Rho GTPase activation protein;RasGAP protein\x2c C-terminal . . 0.0253 0.0056 0.0139 0.0260 0 0.0395 0.0370 0.0255 0.0086 0.0258 0.0085 0.0132 0.0232 0 0.0375 0.0363 0.0316 het 848.42 62 5 75996909 . G A 848.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.458;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.03;MQ0=0;MQRankSum=-0.275;QD=13.68;ReadPosRankSum=-0.740;VQSLOD=6.4053;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:878,0,741 5 76128521 76128521 G A exonic F2RL1 nonsynonymous SNV F2RL1:NM_005242:exon2:c.G89A:p.S30N 0.97 1. 1. 0.83 1. 0.99 0.9869 0.9989 0.9997 0.8259 1 0.9999 0.9922 0.9972 1. 1. 1. 0.97 1. rs616235 COSM4159992 1(thyroid) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.007 0.011 N 1 0.090 P . . . -0.6 0.717 T 0.44 0.033 N 0.016 0.006 -0.922 0.454 T 0.000 0.000 T . . . -1.451 0.018 0.003 0.376 0.025 0.029 0.075 N c -1.293 -1.452 1.000 0.747 0.706 0.609 0 -5.18 0.026 -1.283 0.029 -0.532 0.049 0.000 0.063 0.001 0.043 13.263 0.594 . . . 0.9867 0.9993 0.9997 0.9999 0.8231 0.9997 0.9999 0.9948 0.9972 0.9904 0.9990 0.9988 1 0.8253 0.9997 0.9999 0.9980 hom 4300.57 139 5 76128521 . G A 4300.57 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=30.94;VQSLOD=9.2084;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4300,337,0 5 76129053 76129053 T C exonic F2RL1 synonymous SNV F2RL1:NM_005242:exon2:c.T621C:p.I207I 0.88 1. 0.95 0.53 0.96 0.95 0.9225 0.9894 0.9230 0.5168 0.9365 0.9556 0.9295 0.9521 0.97 0.99 0.95 0.88 0.96 rs631465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9207 0.9891 0.9267 0.9807 0.5127 0.9363 0.9543 0.9412 0.9527 0.9372 0.9878 0.9356 0.9636 0.5025 0.9365 0.9534 0.9469 hom 6134.12 180 5 76129053 . T C 6134.12 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.3885;MQ=59.15;MQ0=0;QD=34.08;VQSLOD=9.5764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:6133,487,0 5 76171252 76171252 A C exonic S100Z nonsynonymous SNV S100Z:NM_130772:exon3:c.A68C:p.E23A 0.55 0.57 0.66 0.56 0.7 0.29 0.6166 0.5738 0.6759 0.5687 0.6681 0.6788 0.6311 0.3523 0.64 0.57 0.68 0.59 0.75 rs1320308 COSM4416058 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.017 0.512 D 1.0 0.899 D 0.986 0.754 D 0.000 0.843 D 0.000 0.537 P . . . 2.7 0.122 T -5.3 0.844 D 0.105 0.134 -1.003 0.290 T 0.000 0.000 T . . . 3.540 0.483 23.1 0.996 0.732 0.975 0.747 D c 0.519 0.477 1.000 0.747 0.646 0.440 1 5.58 0.843 5.915 0.695 1.199 0.960 1.000 0.715 0.879 0.368 15.418 0.746 EF-hand domain pair|S100/CaBP-9k-type\x2c calcium binding\x2c subdomain ENSG00000145708.6|ENSG00000145708.6|ENSG00000145708.6|ENSG00000145708.6 Adrenal_Gland|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.6205 0.5710 0.6783 0.6282 0.5626 0.6773 0.6805 0.6340 0.3507 0.6455 0.5682 0.6902 0.6623 0.5677 0.6885 0.6871 0.6258 het 1967.17 126 5 76171252 . A C 1967.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.380;DP=126;Dels=0.00;FS=8.473;HRun=0;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=0.689;QD=15.61;ReadPosRankSum=0.860;VQSLOD=4.1134;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,67:126:99:1997,0,1533 5 76343999 76343999 T C exonic AGGF1 synonymous SNV AGGF1:NM_018046:exon7:c.T1215C:p.I405I 0.22 0.24 0.23 0.16 0.24 0.24 0.2387 0.2256 0.2899 0.1525 0.1922 0.2470 0.1894 0.2443 0.25 0.22 0.26 0.22 0.34 rs13155212 COSM4003592 2(haematopoietic_and_lymphoid_tissue);1(liver);1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2414 0.2260 0.2829 0.2311 0.1554 0.1932 0.2539 0.2381 0.2457 0.2382 0.2235 0.2924 0.2416 0.1479 0.1936 0.2648 0.2224 het 1553.76 137 5 76343999 . T C 1553.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.938;DP=137;Dels=0.00;FS=1.578;HRun=0;HaplotypeScore=6.4927;MQ=59.11;MQ0=0;MQRankSum=0.416;QD=11.34;ReadPosRankSum=0.477;VQSLOD=5.0804;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,58:137:99:1584,0,2079 5 76704849 76704849 T C exonic PDE8B synonymous SNV PDE8B:NM_001029851:exon11:c.T1206C:p.P402P,PDE8B:NM_001029853:exon13:c.T1437C:p.P479P,PDE8B:NM_001029854:exon13:c.T1356C:p.P452P,PDE8B:NM_001349748:exon14:c.T1494C:p.P498P,PDE8B:NM_001349751:exon14:c.T1494C:p.P498P,PDE8B:NM_001349752:exon14:c.T1191C:p.P397P,PDE8B:NM_003719:exon14:c.T1497C:p.P499P,PDE8B:NM_001349749:exon15:c.T1560C:p.P520P,PDE8B:NM_001349750:exon15:c.T1257C:p.P419P,PDE8B:NM_001349753:exon15:c.T1125C:p.P375P . . . . . . 1 1 1 1 1 1 1 1 . . . 1. 1. rs186753 COSM4595169 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2088.95 64 5 76704849 . T C 2088.95 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;QD=32.64;VQSLOD=8.6825;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2122,163,0 5 76708987 76708987 A G exonic PDE8B synonymous SNV PDE8B:NM_001029851:exon14:c.A1473G:p.E491E,PDE8B:NM_001029852:exon16:c.A1599G:p.E533E,PDE8B:NM_001029853:exon16:c.A1704G:p.E568E,PDE8B:NM_001029854:exon16:c.A1623G:p.E541E,PDE8B:NM_001349748:exon17:c.A1761G:p.E587E,PDE8B:NM_001349751:exon17:c.A1761G:p.E587E,PDE8B:NM_001349752:exon17:c.A1458G:p.E486E,PDE8B:NM_003719:exon17:c.A1764G:p.E588E,PDE8B:NM_001349749:exon18:c.A1827G:p.E609E,PDE8B:NM_001349750:exon18:c.A1524G:p.E508E,PDE8B:NM_001349753:exon18:c.A1392G:p.E464E 0.77 0.82 0.73 0.82 0.67 0.76 0.7031 0.7962 0.7340 0.8201 0.7226 0.6583 0.7026 0.7350 0.7 0.79 0.65 0.8 0.61 rs335614 COSM4159993 1(liver);1(thyroid) Benign Striatal_Degeneration RCV000287477.1 MedGen CN239279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7000 0.7957 0.7290 0.6597 0.8229 0.7211 0.6498 0.7013 0.7310 0.7164 0.7911 0.7201 0.5993 0.8212 0.7215 0.6670 0.6499 hom 6902.66 222 5 76708987 . A G 6902.66 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.716;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5061;MQ=58.90;MQ0=0;MQRankSum=1.685;QD=31.09;ReadPosRankSum=1.544;VQSLOD=7.5650;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,221:222:99:6902,527,0 5 76734084 76734084 C T exonic WDR41 nonsynonymous SNV WDR41:NM_018268:exon10:c.G985A:p.V329I 0.53 0.64 0.61 0.46 0.42 0.51 0.4881 0.5938 0.6807 0.4615 0.4463 0.4468 0.4438 0.4865 0.5 0.59 0.45 0.53 0.47 rs33204 COSM3761327 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.003 0.349 N 1 0.090 P -0.24 0.039 N 0.14 0.609 T 0.1 0.075 N 0.026 0.250 -0.911 0.468 T 0.000 0.000 T . . . -0.090 0.085 1.803 0.234 0.010 0.051 0.108 N c -1.258 -1.183 0.838 0.248 0.732 0.924 0 -2.41 0.061 1.035 0.296 -0.691 0.038 1.000 0.715 0.588 0.286 12.808 0.568 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000164253.8 Pituitary 0.4957 0.5966 0.6689 0.6240 0.4613 0.4446 0.4386 0.4850 0.4810 0.4855 0.5932 0.6367 0.6567 0.4689 0.4444 0.4226 0.4837 het 2963.88 239 5 76734084 . C T 2963.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.590;DP=239;DS;Dels=0.00;FS=0.486;HRun=0;HaplotypeScore=1.9459;MQ=58.82;MQ0=0;MQRankSum=-0.673;QD=12.40;ReadPosRankSum=-0.718;VQSLOD=6.2560;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,115:239:99:2994,0,3066 5 76926578 76926578 T C exonic OTP synonymous SNV OTP:NM_032109:exon3:c.A489G:p.K163K 0.99 1. 0.99 1. 0.98 0.99 0.9852 0.9970 0.9936 1 0.9728 0.9795 0.9744 0.9928 0.99 1. 0.98 0.98 0.69 rs13357072 COSM3761328 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9864 0.9975 0.9934 0.9928 0.9999 0.9714 0.9798 0.9851 0.9928 0.9854 0.9957 0.9940 0.9967 1 0.9731 0.9799 0.9878 hom 832.03 30 5 76926578 . T C 832.03 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.94;MQ0=0;QD=27.73;VQSLOD=7.5400;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:66.21:865,66,0 5 77425028 77425028 A T exonic AP3B1 nonsynonymous SNV AP3B1:NM_001271769:exon16:c.T1607A:p.V536E,AP3B1:NM_003664:exon16:c.T1754A:p.V585E . . . . . . 0.8628 0.9500 0.8407 0.4310 0.8920 0.9220 0.8678 0.7984 0.93 0.95 0.92 0.88 0.88 rs6453373 . . Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150163.2|RCV000324616.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.940 0.268 P 0 0.065 N 2.7 0.122 T 4.67 0.000 N 0.189 0.376 -0.939 0.428 T 0.000 0.000 T . . . 1.032 0.193 10.84 0.829 0.139 0.257 0.225 N c -0.536 -0.272 0.960 0.284 0.706 0.609 0 5.41 0.782 6.286 0.725 0.152 0.238 1.000 0.715 0.998 0.697 11.854 0.515 Armadillo-like helical|Armadillo-type fold;Armadillo-like helical|Armadillo-type fold|Clathrin/coatomer adaptor\x2c adaptin-like\x2c N-terminal . . 0.8620 0.9549 0.8476 0.9078 0.4283 0.8908 0.9271 0.8851 0.7990 0.9047 0.9517 0.8819 0.9272 0.4318 0.8918 0.9321 0.9049 hom 1607.68 49 5 77425028 . A T 1607.68 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.6828;MQ=59.05;MQ0=0;QD=32.81;VQSLOD=9.7331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1641,129,0 5 77745853 77745853 - A exonic SCAMP1 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1.0000 1 1 1. 1. 1. . . rs66744502 COSN15647777;COSN15647782;COSN15647799;COSN15647796;COSN15647790;COSN15647785;COSN15647793;COSN15647789;COSN20101414;COSN15647778;COSN15647797;COSN20101411;COSN20101412;COSN15647788;COSN15647784;COSN20101415;COSN15647781;COSN15647787;COSN20101410;COSN15647779;COSN15647792;COSN15647791;COSN15647794;COSN15647780;COSN15647798;COSN15647795;COSN20101413;COSN15647783;COSN15647786 23(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 1.0000 1.0000 0.9999 1 1 1 1 1 1 hom 4474.31 108 5 77745853 . C CA 4474.31 Mask AC=2;AF=1.00;AN=2;DP=108;FS=0.000;HRun=1;HaplotypeScore=227.2648;MQ=60.31;MQ0=0;QD=41.43;set=variant2 GT:AD:DP:GQ:PL 1/1:3,105:108:99:4474,307,0 5 77784738 77784738 A G exonic LHFPL2 synonymous SNV LHFPL2:NM_005779:exon5:c.T669C:p.N223N . . . . . . 0.7285 0.8784 0.4219 0.6756 0.7513 0.7564 0.7599 0.7531 0.81 0.88 0.77 0.83 0.8 rs2241566 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7153 0.8798 0.4484 0.7447 0.6747 0.7495 0.7580 0.7291 0.7557 0.7836 0.8720 0.4940 0.7417 0.6780 0.7596 0.7683 0.7495 hom 4672.46 144 5 77784738 . A G 4672.46 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.88;MQ0=0;QD=32.45;VQSLOD=9.7324;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4672,361,0 5 78135201 78135201 C T exonic ARSB synonymous SNV ARSB:NM_000046:exon6:c.G1191A:p.P397P,ARSB:NM_198709:exon7:c.G1191A:p.P397P 0.26 0.56 0.15 0.049 0.18 0.22 0.2007 0.5154 0.1012 0.0439 0.1200 0.1904 0.2170 0.2272 0.29 0.5 0.19 0.33 0.19 rs25413 COSM3761329;COSM3761330 1(thyroid);1(large_intestine) Benign|Benign not_specified|Mucopolysaccharidosis_type_VI RCV000078001.5|RCV000372416.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0026709:253200:ORPHA583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1900 0.5213 0.1097 0.2729 0.0433 0.1194 0.1880 0.1943 0.2263 0.2574 0.4997 0.1480 0.2550 0.0507 0.1225 0.1822 0.1752 hom 3036.45 108 5 78135201 . C T 3036.45 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=59.83;MQ0=0;QD=28.12;VQSLOD=7.5778;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3069,232,0 5 78324352 78324352 A G exonic DMGDH nonsynonymous SNV DMGDH:NM_013391:exon12:c.T1936C:p.S646P 0.3 0.49 0.2 0.14 0.3 0.3 0.2798 0.4590 0.1375 0.1529 0.2726 0.2875 0.2941 0.3044 0.34 0.45 0.29 0.38 0.35 rs1805074 COSM4003597;COSM4003598 2(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign not_specified RCV000424897.1 MedGen CN169374 . . . . . . 0.167 0.231 T 0.002 0.147 B 0.023 0.188 B 0.150 0.180 N 0.999 0.217 P 1.08 0.273 L -1.65 0.826 D -2.45 0.535 N 0.081 0.074 -0.951 0.408 T 0.000 0.000 T . . . 2.075 0.310 16.69 0.990 0.491 0.148 0.184 N c -0.596 -0.485 0.055 0.150 0.487 0.133 0 2.11 0.262 0.081 0.146 0.189 0.248 0.029 0.202 0.998 0.697 1.547 0.024 GTP-binding protein TrmE/Glycine cleavage system T protein\x2c domain 1|Glycine cleavage T-protein-like\x2c N-terminal ENSG00000132840.5|ENSG00000132840.5 Adipose_Subcutaneous|Nerve_Tibial 0.2737 0.4655 0.1532 0.3262 0.1508 0.2705 0.2907 0.2836 0.3011 0.3290 0.4628 0.1746 0.2748 0.1542 0.2832 0.2946 0.2659 het 2549.08 183 5 78324352 . A G 2549.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.123;DP=183;Dels=0.00;FS=1.914;HRun=2;HaplotypeScore=3.3715;MQ=58.56;MQ0=0;MQRankSum=0.063;QD=13.93;ReadPosRankSum=1.570;VQSLOD=5.6180;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,94:183:99:2579,0,2350 5 78326750 78326750 G C exonic DMGDH nonsynonymous SNV DMGDH:NM_013391:exon10:c.C1589G:p.A530G 0.31 0.5 0.2 0.14 0.3 0.3 0.2808 0.4703 0.1379 0.1527 0.2730 0.2873 0.2947 0.3044 0.35 0.47 0.29 0.39 0.35 rs1805073 COSM4003601;COSM4003602 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000437524.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.040 B 0.000 0.843 N 0.964 0.260 P -2.2 0.001 N -1.34 0.800 T 5.18 0.000 N 0.12 0.175 -0.978 0.355 T 0.000 0.000 T . . . 1.618 0.256 13.95 0.812 0.131 0.432 0.268 N c -0.639 -0.328 1.0 0.983 0.554 0.246 0 5.86 0.939 6.094 0.709 0.014 0.141 1.000 0.715 0.973 0.468 17.248 0.869 GTP-binding protein TrmE/Glycine cleavage system T protein\x2c domain 1|Glycine cleavage T-protein-like\x2c N-terminal ENSG00000132840.5|ENSG00000132840.5 Adipose_Subcutaneous|Nerve_Tibial 0.2743 0.4769 0.1533 0.3261 0.1508 0.2703 0.2904 0.2839 0.3011 0.3333 0.4758 0.1746 0.2767 0.1530 0.2836 0.2960 0.2638 het 1118.59 102 5 78326750 . G C 1118.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.868;DP=102;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5394;MQ=59.77;MQ0=0;MQRankSum=-0.868;QD=10.97;ReadPosRankSum=1.503;VQSLOD=3.6488;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,44:102:99:1149,0,1560 5 78328560 78328560 G A exonic DMGDH synonymous SNV DMGDH:NM_013391:exon9:c.C1467T:p.G489G 0.2 0.24 0.13 0.14 0.2 0.25 0.1888 0.2399 0.0912 0.1527 0.1805 0.1876 0.2048 0.2509 0.2 0.23 0.19 0.23 0.17 rs1805072 COSM4003603;COSM4003604 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000427724.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1848 0.2365 0.1023 0.2324 0.1501 0.1791 0.1870 0.1935 0.2477 0.1972 0.2391 0.1193 0.1788 0.1524 0.1790 0.1883 0.1728 het 4372.99 250 5 78328560 . G A 4372.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.831;DP=250;DS;Dels=0.00;FS=10.663;HRun=1;HaplotypeScore=7.4408;MQ=58.92;MQ0=0;MQRankSum=1.135;QD=17.49;ReadPosRankSum=0.415;VQSLOD=3.4322;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,136:250:99:3695,0,3174 5 78340257 78340257 C G exonic DMGDH synonymous SNV DMGDH:NM_013391:exon6:c.G864C:p.L288L 0.62 0.63 0.59 0.78 0.51 0.56 0.5614 0.5976 0.5848 0.7779 0.5380 0.5265 0.5121 0.5621 0.55 0.6 0.53 0.56 0.46 rs248385 COSM5983383;COSM5983382 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5590 0.6045 0.5827 0.4743 0.7813 0.5298 0.5240 0.5346 0.5655 0.5543 0.5895 0.5811 0.4735 0.7930 0.5206 0.5171 0.5378 het 1784.94 138 5 78340257 . C G 1784.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.551;DP=138;Dels=0.00;FS=0.653;HRun=2;HaplotypeScore=0.6651;MQ=59.63;MQ0=0;MQRankSum=-0.173;QD=12.93;ReadPosRankSum=-1.023;VQSLOD=5.8223;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,64:138:99:1815,0,2135 5 78340286 78340286 A G exonic DMGDH nonsynonymous SNV DMGDH:NM_013391:exon6:c.T835C:p.S279P 0.62 0.63 0.59 0.78 0.51 0.56 0.5614 0.5976 0.5847 0.7781 0.5383 0.5264 0.5132 0.5621 0.55 0.6 0.53 0.56 0.46 rs532964 COSM4160005;COSM4160004 1(breast);1(pancreas);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.903 0.810 P -2.715 0.000 N 1.78 0.257 T 5.89 0.000 N 0.205 0.251 -0.956 0.400 T 0.000 0.000 T . . . 1.444 0.236 13.02 0.273 0.013 0.095 0.151 N c -0.792 -0.479 1.000 0.467 0.487 0.133 0 5.29 0.743 7.960 0.873 0.076 0.183 1.000 0.715 0.855 0.357 14.534 0.674 FAD dependent oxidoreductase ENSG00000145692.10|ENSG00000145692.10|ENSG00000145692.10|ENSG00000145692.10|ENSG00000132837.10|ENSG00000132840.5|ENSG00000145692.10|ENSG00000145692.10|ENSG00000145692.10 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.5589 0.6045 0.5826 0.4742 0.7814 0.5298 0.5239 0.5349 0.5655 0.5545 0.5900 0.5811 0.4735 0.7927 0.5206 0.5174 0.5378 het 1216.11 112 5 78340286 . A G 1216.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.366;DP=112;Dels=0.00;FS=5.162;HRun=1;HaplotypeScore=3.2090;MQ=58.92;MQ0=0;MQRankSum=0.051;QD=10.86;ReadPosRankSum=0.199;VQSLOD=5.4787;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,48:112:99:1246,0,1699 5 78351636 78351636 A C exonic DMGDH synonymous SNV DMGDH:NM_013391:exon3:c.T372G:p.G124G 0.65 0.59 0.65 0.78 0.63 0.62 0.6448 0.6039 0.6291 0.7769 0.6751 0.6408 0.6135 0.6184 0.63 0.61 0.64 0.55 0.5 rs2253262 . . Benign not_specified RCV000438144.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6437 0.6055 0.6333 0.5373 0.7805 0.6674 0.6429 0.6316 0.6195 0.6402 0.6026 0.6244 0.5333 0.7930 0.6721 0.6411 0.6398 het 791.45 60 5 78351636 . A C 791.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.423;DP=60;Dels=0.00;FS=2.348;HRun=2;HaplotypeScore=1.9942;MQ=58.46;MQ0=0;MQRankSum=-1.405;QD=13.19;ReadPosRankSum=-1.864;VQSLOD=4.6671;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,31:60:99:821,0,657 5 78373431 78373431 C T exonic BHMT2 synonymous SNV BHMT2:NM_001178005:exon2:c.C162T:p.D54D,BHMT2:NM_017614:exon2:c.C162T:p.D54D 0.49 0.24 0.6 0.6 0.6 0.51 0.5679 0.2812 0.5990 0.6203 0.6717 0.6065 0.5396 0.5034 0.5 0.29 0.61 0.4 0.57 rs682985 COSM4160006 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5749 0.2809 0.6005 0.4396 0.6276 0.6638 0.6134 0.5688 0.5049 0.5266 0.2888 0.5811 0.4205 0.6453 0.6634 0.6145 0.5982 het 1777.09 152 5 78373431 . C T 1777.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.345;DP=152;Dels=0.00;FS=3.027;HRun=0;HaplotypeScore=4.6559;MQ=58.75;MQ0=0;MQRankSum=1.212;QD=11.69;ReadPosRankSum=0.162;VQSLOD=5.5154;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,75:152:99:1807,0,1876 5 78421959 78421959 G A exonic BHMT nonsynonymous SNV BHMT:NM_001713:exon6:c.G716A:p.R239Q 0.29 0.2 0.38 0.32 0.32 0.29 0.2953 0.2204 0.3841 0.3213 0.2419 0.2953 0.2826 0.2886 0.27 0.22 0.3 0.26 0.38 rs3733890 COSM4418474 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.051 0.393 T 0.78 0.423 P 0.064 0.257 B 0.070 0.216 N 1 0.090 P 1.385 0.346 L 1.57 0.293 T -0.16 0.095 N 0.066 0.052 -0.936 0.432 T 0.000 0.000 T . . . 2.891 0.408 21.8 0.996 0.755 0.218 0.213 N c -0.541 -0.474 0.080 0.158 0.615 0.372 0 3.51 0.391 2.864 0.479 1.048 0.713 0.094 0.225 0.840 0.350 4.661 0.119 Homocysteine-binding domain ENSG00000132837.10 Brain_Frontal_Cortex_BA9 0.3018 0.2191 0.3811 0.3420 0.3243 0.2388 0.2983 0.3091 0.2881 0.2688 0.2237 0.3565 0.3212 0.3561 0.2382 0.2875 0.2582 het 1108.94 91 5 78421959 . G A 1108.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.656;DP=91;Dels=0.01;FS=15.843;HRun=1;HaplotypeScore=4.5425;MQ=59.50;MQ0=0;MQRankSum=0.290;QD=12.05;ReadPosRankSum=1.602;VQSLOD=3.4033;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,43:91:99:1139,0,1199 5 78573790 78573790 A T exonic JMY nonsynonymous SNV JMY:NM_152405:exon2:c.A1090T:p.M364L 0.48 0.36 0.56 0.49 0.62 0.43 0.5465 0.3839 0.5575 0.4689 0.5688 0.6049 0.5589 0.4300 0.55 0.4 0.62 0.49 0.66 rs13182512 COSM4003606 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.185 0.215 T 0.001 0.067 B 0.002 0.063 B 0.007 0.315 N 0.910 0.275 P -0.145 0.044 N 3.23 0.070 T -0.88 0.238 N 0.058 0.041 -0.966 0.379 T 0.000 0.000 T . . . 0.238 0.117 5.076 0.565 0.054 0.639 0.320 D c -0.943 -0.850 0.001 0.085 0.651 0.465 0 -4.71 0.030 1.538 0.355 -0.149 0.108 1.000 0.715 0.998 0.697 5.503 0.160 JMY/WHAMM\x2c middle domain ENSG00000132837.10|ENSG00000132837.10|ENSG00000145692.10|ENSG00000132837.10|ENSG00000132840.5|ENSG00000145692.10|ENSG00000152409.8|ENSG00000145692.10 Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Testis|Testis 0.5520 0.3871 0.5575 0.6083 0.4704 0.5710 0.6104 0.5763 0.4252 0.5343 0.3925 0.5251 0.6060 0.4647 0.5616 0.6135 0.5902 het 1307.01 155 5 78573790 . A T 1307.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.145;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6498;MQ=59.33;MQ0=0;MQRankSum=-0.160;QD=8.43;ReadPosRankSum=-0.477;VQSLOD=5.9718;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,53:155:99:1337,0,2677 5 78596044 78596044 T C exonic JMY synonymous SNV JMY:NM_152405:exon5:c.T1596C:p.D532D 0.68 0.94 0.58 0.63 0.62 0.51 0.6030 0.8912 0.5790 0.5935 0.5156 0.5974 0.5789 0.5126 0.7 0.88 0.61 0.73 0.66 rs10514159 COSM3761333 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5978 0.8959 0.5805 0.6448 0.5901 0.5056 0.6012 0.6046 0.5121 0.6682 0.8849 0.5538 0.6556 0.6053 0.5063 0.5974 0.6031 het 1890.50 138 5 78596044 . T C 1890.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.113;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5802;MQ=59.56;MQ0=0;MQRankSum=1.270;QD=13.70;ReadPosRankSum=-0.409;VQSLOD=6.4343;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,71:138:99:1920,0,1614 5 79361265 79361265 G C exonic THBS4 nonsynonymous SNV THBS4:NM_001306214:exon9:c.G886C:p.A296P,THBS4:NM_003248:exon9:c.G1159C:p.A387P,THBS4:NM_001306212:exon10:c.G886C:p.A296P,THBS4:NM_001306213:exon10:c.G886C:p.A296P 0.13 0.069 0.13 0.051 0.23 0.17 0.1783 0.1007 0.1017 0.0400 0.1688 0.2186 0.1949 0.1935 0.18 0.099 0.22 0.15 0.21 rs1866389 COSM4985517 7(soft_tissue) . . . . . . . . . . . 0.013 0.538 D 0.568 0.366 P 0.352 0.411 B 0.000 0.629 D 0.114 0.358 P -1.165 0.009 N -3.0 0.922 D -2.08 0.475 N 0.184 0.225 -0.903 0.477 T 0.000 0.001 T . . . 4.877 0.655 24.9 0.995 0.691 0.929 0.565 D c -0.277 -0.115 1.000 0.747 0.706 0.609 0 5.19 0.713 3.008 0.490 1.048 0.713 0.997 0.399 0.878 0.368 15.989 0.799 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain ENSG00000113296.10|ENSG00000113296.10|ENSG00000251050.1 Cells_Transformed_fibroblasts|Lung|Testis 0.1744 0.0996 0.1057 0.1811 0.0394 0.1669 0.2220 0.1888 0.1897 0.1667 0.1036 0.1244 0.2351 0.0401 0.1632 0.2164 0.2045 het 1858.95 192 5 79361265 . G C 1858.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.800;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9198;MQ=59.16;MQ0=0;MQRankSum=0.062;QD=9.68;ReadPosRankSum=0.567;VQSLOD=4.3414;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,84:192:99:1889,0,2783 5 79616083 79616083 G C exonic SPZ1 nonsynonymous SNV SPZ1:NM_032567:exon1:c.G49C:p.V17L 0.79 0.86 0.67 0.94 0.63 0.8 0.7154 0.8241 0.6725 0.9525 0.6580 0.6666 0.7016 0.7782 0.72 0.83 0.67 0.81 0.67 rs1862136 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.468 0.049 N 1 0.090 P -1.355 0.007 N 0.85 0.471 T -0.67 0.193 N 0.019 0.363 -0.980 0.350 T 0.000 0.000 T . . . -1.614 0.014 0.002 0.545 0.051 0.001 0.004 N c -1.703 -1.641 0.000 0.029 0.497 0.185 0 1.24 0.203 -0.423 0.070 -0.469 0.054 0.000 0.063 0.000 0.016 4.162 0.097 . . . 0.7131 0.8257 0.6753 0.7513 0.9520 0.6541 0.6622 0.7034 0.7808 0.7192 0.8311 0.6850 0.7583 0.9568 0.6636 0.6456 0.6694 hom 8044.37 247 5 79616083 . G C 8044.37 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7286;MQ=59.30;MQ0=0;QD=32.57;VQSLOD=8.8520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:8044,629,0 5 79733079 79733079 T C exonic ZFYVE16 nonsynonymous SNV ZFYVE16:NM_001284237:exon3:c.T575C:p.I192T,ZFYVE16:NM_014733:exon3:c.T575C:p.I192T,ZFYVE16:NM_001105251:exon4:c.T575C:p.I192T,ZFYVE16:NM_001284236:exon4:c.T575C:p.I192T,ZFYVE16:NM_001349434:exon4:c.T575C:p.I192T 0.76 0.44 0.88 0.92 0.89 0.82 0.8639 0.4731 0.9329 0.9315 0.9142 0.9118 0.8814 0.7979 0.76 0.48 0.91 0.72 0.91 rs2544600 COSM4407126 1(liver) . . . . . . . . . . . 0.14 0.256 T 0.0 0.214 B 0.0 0.166 B 0.044 0.019 N 1 0.090 P 0.69 0.170 N 1.21 0.372 T -0.59 0.176 N 0.008 0.001 -0.985 0.338 T 0.000 0.000 T . . . -3.234 0.001 0.001 0.208 0.008 0.037 0.089 N c -1.707 -1.751 0.817 0.244 0.651 0.465 0 -6.06 0.020 -0.335 0.079 -0.273 0.086 0.000 0.063 0.679 0.305 1.210 0.018 . . . 0.8717 0.4569 0.9265 0.9277 0.9297 0.9147 0.9098 0.8807 0.7964 0.7890 0.4782 0.9069 0.9338 0.9139 0.9064 0.9127 0.8859 het 651.33 68 5 79733079 . T C 651.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.666;DP=68;Dels=0.00;FS=3.637;HRun=1;HaplotypeScore=0.7887;MQ=59.32;MQ0=0;MQRankSum=-1.256;QD=9.58;ReadPosRankSum=-0.057;VQSLOD=5.8448;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,26:68:99:681,0,1114 5 79734297 79734297 T C exonic ZFYVE16 nonsynonymous SNV ZFYVE16:NM_001284237:exon3:c.T1793C:p.I598T,ZFYVE16:NM_014733:exon3:c.T1793C:p.I598T,ZFYVE16:NM_001105251:exon4:c.T1793C:p.I598T,ZFYVE16:NM_001284236:exon4:c.T1793C:p.I598T,ZFYVE16:NM_001349434:exon4:c.T1793C:p.I598T 0.85 0.69 0.93 0.92 0.93 0.86 0.9097 0.7153 0.9592 0.9330 0.9212 0.9408 0.9237 0.8508 0.87 0.72 0.94 0.85 0.9 rs259028 COSM4408698 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.347 N 1 0.090 P -2.255 0.001 N 1.35 0.346 T 1.59 0.007 N 0.015 0.193 -0.955 0.400 T 0.000 0.000 T . . . -0.258 0.071 0.824 0.251 0.011 0.010 0.038 N c -1.021 -0.785 0.683 0.225 0.651 0.465 0 4.56 0.555 0.508 0.222 0.069 0.176 0.002 0.151 0.993 0.574 10.668 0.447 . ENSG00000039319.12|ENSG00000152380.5 Thyroid|Whole_Blood 0.9146 0.7066 0.9537 0.9463 0.9311 0.9222 0.9419 0.9198 0.8510 0.8737 0.7181 0.9510 0.9503 0.9154 0.9164 0.9405 0.9224 het 1039.67 74 5 79734297 . T C 1039.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.191;DP=74;Dels=0.00;FS=8.264;HRun=0;HaplotypeScore=1.9945;MQ=58.99;MQ0=0;MQRankSum=1.044;QD=14.05;ReadPosRankSum=-1.671;VQSLOD=4.5169;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,38:74:99:1070,0,902 5 79734409 79734409 G A exonic ZFYVE16 synonymous SNV ZFYVE16:NM_001284237:exon3:c.G1905A:p.S635S,ZFYVE16:NM_014733:exon3:c.G1905A:p.S635S,ZFYVE16:NM_001105251:exon4:c.G1905A:p.S635S,ZFYVE16:NM_001284236:exon4:c.G1905A:p.S635S,ZFYVE16:NM_001349434:exon4:c.G1905A:p.S635S 0.87 0.75 0.94 0.92 0.94 0.87 0.9218 0.7617 0.9664 0.9329 0.9260 0.9510 0.9371 0.8648 0.89 0.76 0.95 0.87 0.97 rs259029 COSM4407170 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9262 0.7542 0.9622 0.9610 0.9309 0.9272 0.9517 0.9365 0.8639 0.8930 0.7673 0.9594 0.9669 0.9155 0.9239 0.9488 0.9297 het 1629.69 107 5 79734409 . G A 1629.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.355;DP=107;Dels=0.00;FS=3.643;HRun=0;HaplotypeScore=3.9490;MQ=58.65;MQ0=0;MQRankSum=2.997;QD=15.23;ReadPosRankSum=0.066;VQSLOD=4.1515;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,60:107:99:1660,0,1242 5 79735858 79735858 A G exonic ZFYVE16 nonsynonymous SNV ZFYVE16:NM_001284237:exon4:c.A2426G:p.Y809C 0.74 0.38 0.87 0.92 0.89 0.82 0.8573 0.4250 0.9282 0.9316 0.9141 0.9109 0.8778 0.7987 0.74 0.43 0.91 0.67 0.89 rs168939 COSM4407270 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8686 0.4101 0.9235 0.9212 0.9302 0.9150 0.9096 0.8746 0.7991 0.7737 0.4265 0.9043 0.9305 0.9140 0.9057 0.9117 0.8814 het 1564.70 98 5 79735858 . A G 1564.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.291;DP=98;Dels=0.00;FS=9.348;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=-0.115;QD=15.97;ReadPosRankSum=1.675;VQSLOD=4.1114;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,55:98:99:1595,0,1083 5 79745469 79745469 A G exonic ZFYVE16 nonsynonymous SNV ZFYVE16:NM_014733:exon8:c.A3163G:p.S1055G,ZFYVE16:NM_001105251:exon9:c.A3163G:p.S1055G,ZFYVE16:NM_001284236:exon9:c.A3163G:p.S1055G,ZFYVE16:NM_001349434:exon9:c.A3163G:p.S1055G 0.85 0.69 0.93 0.92 0.93 0.86 0.9092 0.7153 0.9594 0.9330 0.9212 0.9408 0.9238 0.8507 0.87 0.72 0.94 0.85 0.94 rs249038 COSM4408020 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.259 0.153 N 1.000 0.186 P -2.22 0.001 N 1.35 0.346 T 4.07 0.001 N 0.002 0.020 -0.963 0.386 T 0.000 0.000 T . . . -0.592 0.050 0.131 0.160 0.004 0.060 0.118 N c -1.053 -0.813 0.032 0.140 0.732 0.924 0 5.05 0.674 2.464 0.445 -0.234 0.093 1.000 0.715 0.022 0.137 12.569 0.555 . ENSG00000039319.12|ENSG00000152380.5 Thyroid|Whole_Blood 0.9145 0.7055 0.9537 0.9463 0.9313 0.9222 0.9418 0.9193 0.8497 0.8735 0.7184 0.9499 0.9503 0.9153 0.9164 0.9401 0.9223 het 2032.60 198 5 79745469 . A G 2032.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.257;DP=198;Dels=0.00;FS=8.343;HRun=1;HaplotypeScore=5.8415;MQ=59.15;MQ0=0;MQRankSum=2.516;QD=10.27;ReadPosRankSum=-0.010;VQSLOD=3.4737;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,83:198:99:2063,0,2893 5 79815658 79815658 T C exonic FAM151B nonsynonymous SNV FAM151B:NM_205548:exon4:c.T464C:p.I155T 0.73 0.83 0.7 0.61 0.79 0.71 0.7495 0.8224 0.6489 0.6087 0.7185 0.7846 0.7533 0.7179 0.8 0.83 0.79 0.69 0.75 rs369998 COSM5438086 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.959 0.021 T 0.0 0.026 B 0.0 0.013 B 0.001 0.397 N 1.000 0.182 P -2.52 0.001 N 2.88 0.103 T 2.88 0.002 N 0.014 0.017 -1.014 0.257 T 0.000 0.000 T . . . 1.405 0.232 12.82 0.416 0.030 0.012 0.042 N c -0.845 -0.533 0.004 0.105 0.638 0.428 0 5.76 0.907 1.173 0.313 0.008 0.138 0.659 0.280 0.992 0.562 10.351 0.429 . ENSG00000228716.2|ENSG00000113318.9|ENSG00000113318.9|ENSG00000113318.9 Adrenal_Gland|Cells_Transformed_fibroblasts|Muscle_Skeletal|Thyroid 0.7440 0.8263 0.6649 0.7895 0.6066 0.7177 0.7861 0.7464 0.7184 0.7714 0.8192 0.6782 0.7748 0.6258 0.7268 0.7767 0.7439 hom 4483.60 153 5 79815658 . T C 4483.60 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;QD=29.30;VQSLOD=8.2760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4483,334,0 5 79855372 79855372 A G exonic ANKRD34B nonsynonymous SNV ANKRD34B:NM_001004441:exon5:c.T467C:p.L156S 0.94 0.99 0.92 1. 0.87 0.9 0.8916 0.9769 0.9477 0.9987 0.8981 0.8586 0.9031 0.8729 0.89 0.97 0.85 0.95 0.79 rs32857 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.065 0.219 N 1.000 0.201 P -2.24 0.001 N 2.28 0.173 T 3.26 0.001 N 0.087 0.083 -0.947 0.415 T 0.000 0.000 T . . . -0.416 0.061 0.354 0.193 0.006 0.151 0.186 N c -0.989 -0.748 0.503 0.209 0.615 0.372 0 5.82 0.927 2.734 0.468 0.136 0.221 0.891 0.310 0.032 0.149 13.929 0.633 . ENSG00000189127.3|ENSG00000228716.2 Whole_Blood|Whole_Blood 0.8918 0.9782 0.9418 0.9116 0.9986 0.8956 0.8521 0.8931 0.8686 0.9010 0.9725 0.9475 0.9106 0.9994 0.8871 0.8501 0.8880 het 3121.44 209 5 79855372 . A G 3121.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.962;DP=209;Dels=0.00;FS=7.853;HRun=0;HaplotypeScore=5.4482;MQ=59.20;MQ0=0;MQRankSum=1.439;QD=14.94;ReadPosRankSum=0.631;VQSLOD=4.5477;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,114:209:99:3151,0,2638 5 79966029 79966029 G A exonic MSH3 synonymous SNV MSH3:NM_002439:exon4:c.G693A:p.P231P 0.18 0.2 0.27 0.34 0.054 0.078 0.1263 0.1912 0.3692 0.3260 0.0700 0.0654 0.0980 0.0803 0.1 0.18 0.061 0.2 0.049 rs1805355 COSM4003614;COSM4003615 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1337 0.1903 0.3506 0.1374 0.3271 0.0701 0.0591 0.1136 0.0802 0.1261 0.1932 0.3038 0.1167 0.3223 0.0745 0.0695 0.1084 het 572.21 58 5 79966029 . G A 572.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.683;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6921;MQ=60.00;MQ0=0;MQRankSum=0.874;QD=9.87;ReadPosRankSum=-0.191;VQSLOD=6.0456;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,23:58:99:602,0,881 5 80149981 80149981 A G exonic MSH3 nonsynonymous SNV MSH3:NM_002439:exon21:c.A2846G:p.Q949R 0.9 0.9 0.87 1. 0.86 0.87 0.8731 0.8984 0.9204 0.9993 0.8746 0.8417 0.8711 0.8844 0.86 0.89 0.84 0.88 0.84 rs184967 COSM4160036 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.460 N 1.000 0.090 P -0.32 0.035 N -1.93 0.849 D 0.58 0.026 N 0.023 0.006 -0.948 0.414 T 0.000 0.000 T . . . 0.224 0.116 4.933 0.864 0.159 0.178 0.198 N c -0.780 -0.615 0.000 0.044 0.706 0.609 0 0.287 0.149 0.429 0.210 -0.231 0.094 0.880 0.307 0.991 0.552 12.456 0.549 DNA mismatch repair protein MutS\x2c C-terminal|P-loop containing nucleoside triphosphate hydrolase ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000113318.9|ENSG00000228716.2|ENSG00000189127.3|ENSG00000228716.2 Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Testis|Whole_Blood|Whole_Blood 0.8733 0.8936 0.9140 0.8304 0.9994 0.8781 0.8408 0.8375 0.8824 0.8711 0.8881 0.9189 0.8067 1 0.8713 0.8461 0.8684 hom 2054.02 73 5 80149981 . A G 2054.02 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=59.08;MQ0=0;QD=28.14;VQSLOD=7.9000;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2087,171,0 5 80168937 80168937 G A exonic MSH3 nonsynonymous SNV MSH3:NM_002439:exon23:c.G3133A:p.A1045T 0.72 0.66 0.69 0.75 0.72 0.79 0.7305 0.6733 0.7601 0.7438 0.7199 0.7176 0.7280 0.7953 0.69 0.67 0.71 0.64 0.66 rs26279 COSM4416274;COSM4416275 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.551 0.066 T 0.075 0.227 B 0.035 0.214 B 0.570 0.112 N 1 0.090 P -0.245 0.039 N -2.14 0.864 D -0.1 0.085 N 0.027 0.009 -0.949 0.412 T 0.000 0.000 T . . . 0.480 0.140 7.280 0.730 0.098 0.548 0.295 D c -1.032 -1.015 0.000 0.064 0.706 0.609 0 -2.54 0.059 1.922 0.394 -0.089 0.118 0.994 0.380 0.009 0.108 2.363 0.040 DNA mismatch repair protein MutS\x2c C-terminal|P-loop containing nucleoside triphosphate hydrolase ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000113318.9|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2|ENSG00000228716.2 Artery_Aorta|Artery_Tibial|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7300 0.6653 0.7578 0.7069 0.7463 0.7317 0.7145 0.6859 0.7928 0.7083 0.6658 0.7524 0.6987 0.7423 0.7239 0.7223 0.7249 hom 3337.82 115 5 80168937 . G A 3337.82 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9402;MQ=58.70;MQ0=0;QD=29.02;VQSLOD=8.6698;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3337,262,0 5 80409526 80409526 T C exonic RASGRF2 nonsynonymous SNV RASGRF2:NM_006909:exon15:c.T2257C:p.S753P 0.051 0.0098 0.066 0.011 0.073 0.12 0.0692 0.0148 0.0415 0.0102 0.0398 0.0822 0.0738 0.1125 0.06 0.019 0.081 0.054 0.066 rs34193571 COSM4406935 1(liver) . . . . . . . . . . . 0.3 0.145 T 0.002 0.090 B 0.004 0.093 B 0.005 0.334 U 0.997 0.439 D 1.1 0.281 L -0.89 0.748 T -1.32 0.330 N 0.072 0.081 -1.048 0.150 T 0.021 0.088 T . . . 1.836 0.281 15.20 0.988 0.465 0.865 0.456 D c -0.431 -0.258 0.176 0.178 0.615 0.372 0 4.15 0.478 1.980 0.400 0.084 0.191 0.447 0.263 0.998 0.697 10.755 0.452 Ras-like guanine nucleotide exchange factor\x2c N-terminal . . 0.0685 0.0141 0.0468 0.1140 0.0090 0.0414 0.0810 0.0845 0.1091 0.0541 0.0165 0.0430 0.0596 0.0068 0.0464 0.0818 0.0764 het 2028.67 137 5 80409526 . T C 2028.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.952;DP=137;Dels=0.00;FS=1.368;HRun=1;HaplotypeScore=0.9832;MQ=59.66;MQ0=0;MQRankSum=-0.062;QD=14.81;ReadPosRankSum=-0.919;VQSLOD=5.8645;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,70:137:99:2059,0,1800 5 80409729 80409729 T C exonic RASGRF2 synonymous SNV RASGRF2:NM_006909:exon15:c.T2460C:p.S820S 0.44 0.61 0.33 0.25 0.44 0.46 0.4160 0.5958 0.2534 0.2515 0.2731 0.4393 0.4165 0.4667 0.5 0.59 0.45 0.59 0.56 rs10942942 COSM1132101 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4048 0.5982 0.2671 0.5289 0.2450 0.2730 0.4433 0.4440 0.4591 0.4442 0.5958 0.3281 0.4735 0.2593 0.2901 0.4233 0.3609 het 1747.08 121 5 80409729 . T C 1747.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.231;DP=121;Dels=0.00;FS=8.537;HRun=0;HaplotypeScore=0.9665;MQ=59.64;MQ0=0;MQRankSum=1.322;QD=14.44;ReadPosRankSum=0.283;VQSLOD=4.6533;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,64:121:99:1777,0,1399 5 80604430 80604430 C T exonic ZCCHC9 synonymous SNV ZCCHC9:NM_001131035:exon3:c.C435T:p.A145A,ZCCHC9:NM_001131036:exon3:c.C435T:p.A145A,ZCCHC9:NM_032280:exon3:c.C435T:p.A145A 0.14 0.099 0.3 0.015 0.18 0.15 0.1909 0.1028 0.3636 0.0201 0.1984 0.1981 0.1905 0.1828 0.17 0.11 0.2 0.17 0.23 rs1055383 COSM4416891 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1972 0.1009 0.3507 0.1521 0.0177 0.2031 0.1994 0.1920 0.1834 0.1720 0.0982 0.3505 0.1523 0.0154 0.2034 0.2121 0.2169 het 1725.17 140 5 80604430 . C T 1725.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.030;DP=140;Dels=0.00;FS=1.336;HRun=0;HaplotypeScore=7.5841;MQ=59.30;MQ0=0;MQRankSum=0.071;QD=12.32;ReadPosRankSum=1.225;VQSLOD=3.9223;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,69:140:99:1755,0,1705 5 80736444 80736444 A G exonic SSBP2 synonymous SNV SSBP2:NM_001256733:exon13:c.T801C:p.G267G,SSBP2:NM_001256734:exon13:c.T795C:p.G265G,SSBP2:NM_001256735:exon13:c.T771C:p.G257G,SSBP2:NM_001256736:exon13:c.T771C:p.G257G,SSBP2:NM_001256732:exon14:c.T885C:p.G295G,SSBP2:NM_001345886:exon14:c.T885C:p.G295G,SSBP2:NM_012446:exon14:c.T861C:p.G287G 0.45 0.89 0.39 0.18 0.33 0.32 0.3555 0.8073 0.3475 0.1650 0.2724 0.3293 0.3263 0.3164 0.49 0.79 0.34 0.59 0.39 rs9596 COSM3761356 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3546 0.8128 0.3639 0.3778 0.1691 0.2734 0.3362 0.3560 0.3330 0.4463 0.7972 0.3580 0.3576 0.1667 0.2643 0.3291 0.3299 het 629.06 57 5 80736444 . A G 629.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.691;DP=57;Dels=0.00;FS=3.842;HRun=2;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=1.091;QD=11.04;ReadPosRankSum=0.008;VQSLOD=5.9176;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,24:57:99:659,0,783 5 81354389 81354389 T C exonic ATG10 nonsynonymous SNV ATG10:NM_031482:exon3:c.T184C:p.S62P,ATG10:NM_001131028:exon4:c.T184C:p.S62P 0.19 0.058 0.16 0.22 0.2 0.35 0.2092 0.0773 0.1316 0.2090 0.2458 0.2007 0.2192 0.3662 0.16 0.082 0.2 0.14 0.24 rs3734114 COSM4003616 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.29 0.187 T 0.005 0.235 B 0.004 0.214 B 0.038 0.243 N 1 0.090 P 1.59 0.404 L 1.51 0.456 T -0.55 0.266 N 0.055 0.071 -1.050 0.144 T 0.000 0.000 T . . . 0.130 0.106 3.933 0.953 0.260 0.032 0.080 N c -0.928 -0.962 0.695 0.226 0.706 0.609 0 0.709 0.172 0.770 0.261 0.813 0.334 0.042 0.209 0.028 0.145 1.210 0.018 . . . 0.2077 0.0744 0.1289 0.1817 0.2112 0.2412 0.2009 0.1974 0.3683 0.1677 0.0771 0.1435 0.1523 0.2118 0.2293 0.2009 0.2002 het 2465.16 213 5 81354389 . T C 2465.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.372;DP=213;Dels=0.00;FS=3.192;HRun=1;HaplotypeScore=6.1276;MQ=58.88;MQ0=0;MQRankSum=1.108;QD=11.57;ReadPosRankSum=-0.579;VQSLOD=5.0036;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,97:213:99:2495,0,2702 5 81549216 81549216 C T exonic ATG10 nonsynonymous SNV ATG10:NM_031482:exon7:c.C635T:p.T212M,ATG10:NM_001131028:exon8:c.C635T:p.T212M 0.52 0.17 0.57 0.89 0.46 0.63 0.5092 0.1943 0.6960 0.8823 0.4820 0.4602 0.4956 0.5907 0.38 0.21 0.46 0.46 0.45 rs1864183 COSM5983373 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.142 0.254 T 0.113 0.248 B 0.006 0.112 B 0.769 0.066 N 1 0.090 P 0 0.065 N 1.93 0.229 T -0.15 0.093 N 0.065 0.051 -1.013 0.259 T 0.000 0.000 T . . . 1.102 0.200 11.23 0.903 0.189 0.022 0.063 N c -0.985 -0.927 0.709 0.228 0.706 0.609 0 1.65 0.229 -0.082 0.112 0.935 0.490 0.000 0.063 0.012 0.117 5.670 0.169 . ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7 Adipose_Subcutaneous|Adrenal_Gland|Artery_Coronary|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.5187 0.1886 0.6806 0.3912 0.8858 0.4811 0.4597 0.4974 0.5862 0.4210 0.1978 0.6687 0.3642 0.8745 0.4765 0.4710 0.5010 het 2051.72 162 5 81549216 . C T 2051.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.699;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8917;MQ=58.89;MQ0=0;MQRankSum=-2.065;QD=12.66;ReadPosRankSum=-0.627;VQSLOD=4.7390;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,83:162:99:2082,0,1923 5 81549240 81549240 C A exonic ATG10 nonsynonymous SNV ATG10:NM_031482:exon7:c.C659A:p.P220H,ATG10:NM_001131028:exon8:c.C659A:p.P220H 0.56 0.18 0.61 0.91 0.55 0.7 0.5788 0.2104 0.7197 0.9077 0.5855 0.5452 0.5606 0.6743 0.45 0.22 0.56 0.48 0.51 rs1864182 . . . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B 0.016 0.014 N 1 0.090 P 0 0.065 N 1.89 0.237 T 0.45 0.032 N 0.023 0.013 -0.923 0.452 T 0.000 0.000 T . . . 1.734 0.269 14.60 0.467 0.037 0.000 0.003 N c -1.462 -1.470 0.817 0.244 0.706 0.609 0 -2.66 0.057 -0.142 0.102 -0.115 0.114 0.000 0.063 0.000 0.016 0.810 0.010 . ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000152348.11|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000186468.8|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000205464.7|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000152348.11|ENSG00000205464.7|ENSG00000152348.11|ENSG00000152348.11|ENSG00000205464.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Stomach|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.5887 0.2027 0.7089 0.4637 0.9100 0.5861 0.5473 0.5640 0.6659 0.4857 0.2141 0.7017 0.4172 0.8958 0.5873 0.5583 0.5867 het 1448.38 115 5 81549240 . C A 1448.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.860;DP=115;Dels=0.00;FS=4.265;HRun=0;HaplotypeScore=2.6566;MQ=59.16;MQ0=0;MQRankSum=-0.378;QD=12.59;ReadPosRankSum=-0.300;VQSLOD=6.0181;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,55:115:99:1478,0,1627 5 82554375 82554375 A G exonic XRCC4 nonsynonymous SNV XRCC4:NM_001318012:exon7:c.A772G:p.I258V,XRCC4:NM_001318013:exon7:c.A772G:p.I258V,XRCC4:NM_003401:exon7:c.A772G:p.I258V,XRCC4:NM_022406:exon7:c.A772G:p.I258V,XRCC4:NM_022550:exon7:c.A772G:p.I258V . . . . . . 0.0002 9.701e-05 0 0 0 0.0004 0 0 0.0004 0.0002 0.0005 . . rs141122119 . . . . . . . . . . . . . 0.48 0.085 T 0.023 0.254 B 0.029 0.262 B 0.079 0.210 N 1.000 0.196 N 1.01 0.254 L 2.83 0.108 T -0.07 0.080 N 0.064 0.049 -0.965 0.383 T 0.013 0.051 T 0.007 0.175 T 2.357 0.344 18.54 0.927 0.217 0.432 0.268 N c -0.734 -0.637 0.008 0.117 0.706 0.609 0 -0.566 0.111 0.074 0.144 0.158 0.243 0.439 0.262 0.997 0.653 1.461 0.022 . . . 0.0002 0.0001 0.0001 0 0 0 0.0004 0 0 9.695e-05 0 0 0 0 0 0.0002 0 het 1320.89 94 5 82554375 . A G 1320.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.544;DP=94;Dels=0.00;FS=0.779;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;MQRankSum=0.688;QD=14.05;ReadPosRankSum=1.038;VQSLOD=4.7029;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,52:94:99:1351,0,1022 5 82786194 82786194 T C exonic VCAN synonymous SNV VCAN:NM_001126336:exon3:c.T348C:p.T116T,VCAN:NM_001164097:exon3:c.T348C:p.T116T,VCAN:NM_001164098:exon3:c.T348C:p.T116T,VCAN:NM_004385:exon3:c.T348C:p.T116T 0.34 0.5 0.38 0.2 0.39 0.19 0.3483 0.4718 0.4127 0.1746 0.3819 0.3655 0.3524 0.2328 0.41 0.47 0.38 0.4 0.37 rs12332199 COSM3761357 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) Benign|Benign|Benign not_specified|Wagner_syndrome|Vitreoretinopathy RCV000254535.1|RCV000260409.1|RCV000300511.1 MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|C0339540:143200:232064001|HP:0007773:C1850109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3511 0.4780 0.4059 0.3248 0.1788 0.3818 0.3710 0.3623 0.2370 0.3994 0.4770 0.4187 0.3808 0.1809 0.3818 0.3839 0.3586 het 2633.84 186 5 82786194 . T C 2633.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.493;DP=186;Dels=0.00;FS=2.602;HRun=1;HaplotypeScore=0.9665;MQ=59.10;MQ0=0;MQRankSum=1.816;QD=14.16;ReadPosRankSum=0.738;VQSLOD=6.1658;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,102:186:99:2664,0,2204 5 82789647 82789647 A G exonic VCAN synonymous SNV VCAN:NM_001126336:exon5:c.A645G:p.V215V,VCAN:NM_001164097:exon5:c.A645G:p.V215V,VCAN:NM_001164098:exon5:c.A645G:p.V215V,VCAN:NM_004385:exon5:c.A645G:p.V215V 0.24 0.23 0.28 0.089 0.41 0.19 0.3210 0.2386 0.2660 0.0694 0.3827 0.3908 0.3282 0.2363 0.35 0.24 0.41 0.2 0.43 rs4470745 COSM3761358 3(large_intestine) Benign|Benign|Benign not_specified|Vitreoretinopathy|Wagner_syndrome RCV000244690.1|RCV000298722.1|RCV000338361.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0007773:C1850109|C0339540:143200:232064001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3230 0.2382 0.2710 0.3639 0.0681 0.3756 0.3976 0.3502 0.2385 0.3378 0.2371 0.3110 0.4040 0.0810 0.3795 0.4135 0.3531 het 1626.44 120 5 82789647 . A G 1626.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.163;DP=120;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.6651;MQ=59.81;MQ0=0;MQRankSum=-1.963;QD=13.55;ReadPosRankSum=0.703;VQSLOD=5.7998;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,59:120:99:1656,0,1699 5 82833145 82833145 G A exonic VCAN synonymous SNV VCAN:NM_001164097:exon7:c.G1362A:p.Q454Q,VCAN:NM_004385:exon8:c.G4323A:p.Q1441Q . . . . . . 0.6478 0.8053 0.5819 0.6347 0.6572 0.6218 0.6452 0.7024 0.67 0.79 0.61 0.76 0.66 rs2548541 COSM4407603 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign|Benign|Benign not_specified|Wagner_syndrome|Vitreoretinopathy RCV000180254.2|RCV000267291.1|RCV000297799.1 MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|C0339540:143200:232064001|HP:0007773:C1850109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6422 0.8086 0.5879 0.7176 0.6288 0.6515 0.6124 0.6412 0.7028 0.6733 0.8134 0.5831 0.7053 0.6010 0.6460 0.6108 0.6633 hom 3417.79 113 5 82833145 . G A 3417.79 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7653;MQ=59.09;MQ0=0;QD=30.25;VQSLOD=8.9607;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3417,262,0 5 82833369 82833369 A G exonic VCAN nonsynonymous SNV VCAN:NM_001164097:exon7:c.A1586G:p.K529R,VCAN:NM_004385:exon8:c.A4547G:p.K1516R 0.47 0.51 0.53 0.39 0.53 0.4 0.4840 0.5115 0.5132 0.4105 0.5210 0.5054 0.4746 0.3840 0.5 0.51 0.5 0.53 0.52 rs309559 COSM4407147 1(liver);2(large_intestine) Benign|Benign|Benign not_specified|Wagner_syndrome|Vitreoretinopathy RCV000154116.4|RCV000288593.1|RCV000328381.1 MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|C0339540:143200:232064001|HP:0007773:C1850109 . . . . . . 0.112 0.564 T 0.019 0.167 B 0.026 0.195 B 0.111 0.194 N 1 0.090 P 0 0.065 N -1.89 0.847 D -0.37 0.132 N 0.016 0.005 -0.933 0.438 T 0.000 0.000 T . . . -0.828 0.039 0.037 0.314 0.018 0.087 0.144 N c -1.235 -1.164 1.000 0.439 0.672 0.522 0 2.79 0.317 0.310 0.190 -0.866 0.028 0.003 0.159 0.000 0.016 9.256 0.366 . . . 0.4850 0.5083 0.5195 0.5775 0.3997 0.5109 0.4981 0.4974 0.3861 0.4950 0.5103 0.5192 0.5567 0.3628 0.5069 0.4934 0.5174 hom 3050.94 97 5 82833369 . A G 3050.94 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.26;MQ0=0;QD=31.45;VQSLOD=8.8779;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3084,238,0 5 82834299 82834299 G A exonic VCAN nonsynonymous SNV VCAN:NM_001164097:exon7:c.G2516A:p.R839H,VCAN:NM_004385:exon8:c.G5477A:p.R1826H 0.36 0.34 0.46 0.32 0.43 0.27 0.3811 0.3568 0.4585 0.3522 0.4044 0.4001 0.3742 0.2713 0.38 0.35 0.4 0.32 0.43 rs188703 COSM4407162 1(pancreas);1(liver);1(large_intestine) Benign|Benign|Benign not_specified|Vitreoretinopathy|Wagner_syndrome RCV000154119.4|RCV000282165.1|RCV000337159.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0007773:C1850109|C0339540:143200:232064001 . . . . . . 0.002 0.784 D 0.347 0.318 B 0.077 0.270 B 0.964 0.082 N 1 0.090 P 0 0.065 N -1.85 0.845 D 0.18 0.098 N 0.027 0.009 -1.025 0.222 T 0.000 0.000 T . . . 1.532 0.246 13.49 0.823 0.136 0.131 0.175 N c -0.863 -0.877 1.000 0.408 0.672 0.522 0 0.253 0.147 1.737 0.376 1.048 0.713 0.157 0.235 0.008 0.104 2.050 0.033 . . . 0.3836 0.3487 0.4570 0.4830 0.3447 0.3898 0.3921 0.3988 0.2732 0.3726 0.3493 0.4435 0.4570 0.31 0.3877 0.3821 0.3969 hom 4813.16 146 5 82834299 . G A 4813.16 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9679;MQ=59.35;MQ0=0;QD=32.97;VQSLOD=6.8360;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,145:146:99:4776,382,0 5 82834630 82834630 T C exonic VCAN synonymous SNV VCAN:NM_001164097:exon7:c.T2847C:p.G949G,VCAN:NM_004385:exon8:c.T5808C:p.G1936G 0.47 0.5 0.53 0.39 0.53 0.4 0.4838 0.5101 0.5136 0.4091 0.5206 0.5057 0.4746 0.3826 0.5 0.5 0.5 0.53 0.52 rs309557 COSM4407356 1(liver);2(large_intestine) Benign|Benign|Benign not_specified|Wagner_syndrome|Vitreoretinopathy RCV000154120.4|RCV000286138.1|RCV000381744.1 MedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|C0339540:143200:232064001|HP:0007773:C1850109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4849 0.5051 0.5198 0.5779 0.3994 0.5109 0.4984 0.4971 0.3849 0.4950 0.5075 0.5215 0.5596 0.3640 0.5063 0.4950 0.5143 hom 3343.98 108 5 82834630 . T C 3343.98 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;QD=30.96;VQSLOD=8.9190;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3343,280,0 5 82835545 82835545 A G exonic VCAN synonymous SNV VCAN:NM_001164097:exon7:c.A3762G:p.R1254R,VCAN:NM_004385:exon8:c.A6723G:p.R2241R 0.47 0.51 0.53 0.39 0.52 0.4 0.4835 0.5066 0.5131 0.4092 0.5201 0.5055 0.4755 0.3842 0.5 0.5 0.5 0.53 0.53 rs160279 COSM4407224 1(liver);2(large_intestine) Benign|Benign|Benign not_specified|Vitreoretinopathy|Wagner_syndrome RCV000180248.2|RCV000302059.1|RCV000338406.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0007773:C1850109|C0339540:143200:232064001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4847 0.5032 0.5196 0.5778 0.3997 0.5111 0.4980 0.4969 0.3862 0.4940 0.5044 0.5215 0.5596 0.3658 0.5072 0.4943 0.5173 hom 2462.84 71 5 82835545 . A G 2462.84 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=34.69;VQSLOD=9.4348;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2496,199,0 5 82835724 82835724 T A exonic VCAN nonsynonymous SNV VCAN:NM_001164097:exon7:c.T3941A:p.F1314Y,VCAN:NM_004385:exon8:c.T6902A:p.F2301Y 0.47 0.51 0.52 0.39 0.52 0.4 0.4814 0.5062 0.5108 0.4092 0.5189 0.5030 0.4703 0.3813 0.5 0.5 0.49 0.53 0.52 rs160278 COSM4408003 1(liver);2(large_intestine) Benign|Benign|Benign\x2cUncertain significance|Likely benign|Likely benign not_specified|Vitreoretinopathy|Wagner_syndrome\x2cnot_specified|Wagner_syndrome|Vitreoretinopathy RCV000180249.2|RCV000272515.1|RCV000327636.1\x2cRCV000180252.1|RCV000273472.1|RCV000333214.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT\x2cMedGen|MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen CN169374|HP:0007773:C1850109|C0339540:143200:232064001\x2cCN169374|C0339540:143200:232064001|HP:0007773:C1850109 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.701 0.062 N 1 0.090 P -2.08 0.002 N 2.33 0.165 T 0.74 0.020 N 0.043 0.028 -0.933 0.437 T 0.000 0.000 T . . . -1.546 0.016 0.002 0.446 0.034 0.009 0.036 N c -1.411 -1.311 1.000 0.500 0.732 0.924 0 3.61 0.403 0.451 0.213 -0.811 0.031 0.009 0.180 0.002 0.062 6.622 0.219 . . . 0.4825 0.5029 0.5173 0.5780 0.3996 0.5092 0.4953 0.4938 0.3832 0.4928 0.5045 0.5239 0.5596 0.3667 0.5054 0.4920 0.5163 hom 3356.48 108 5 82835724 . T A 3356.48 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=58.16;MQ0=0;QD=31.08;VQSLOD=7.6951;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3356,271,0 5 82837631 82837631 G T exonic VCAN nonsynonymous SNV VCAN:NM_001164097:exon7:c.G5848T:p.D1950Y,VCAN:NM_004385:exon8:c.G8809T:p.D2937Y 0.36 0.36 0.46 0.32 0.43 0.27 0.3812 0.3720 0.4574 0.3514 0.4041 0.3983 0.3731 0.2711 0.39 0.37 0.4 0.36 0.43 rs160277 COSM4406919 1(liver);1(large_intestine) Benign|Benign|Benign not_specified|Vitreoretinopathy|Wagner_syndrome RCV000180253.2|RCV000277745.1|RCV000316409.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0007773:C1850109|C0339540:143200:232064001 . . . . . . 0.003 0.682 D 0.987 0.600 D 0.706 0.525 P 0.904 0.074 N 1 0.090 P 0.69 0.170 N 2.22 0.182 T -1.78 0.522 N 0.067 0.054 -0.917 0.460 T 0.000 0.000 T . . . 3.696 0.501 23.3 0.788 0.120 0.074 0.133 N c -0.524 -0.661 1.000 0.409 0.635 0.413 0 0.819 0.179 0.658 0.245 0.205 0.253 0.001 0.137 0.002 0.062 2.397 0.041 . . . 0.3843 0.3686 0.4566 0.4788 0.3444 0.3889 0.3916 0.3981 0.2731 0.3777 0.3685 0.4438 0.4570 0.3123 0.3877 0.3810 0.3965 hom 3819.89 121 5 82837631 . G T 3819.89 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.85;MQ0=0;QD=31.57;VQSLOD=9.5567;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3820,292,0 5 82875800 82875800 C T exonic VCAN synonymous SNV VCAN:NM_001126336:exon12:c.C1659T:p.V553V,VCAN:NM_001164097:exon13:c.C6921T:p.V2307V,VCAN:NM_001164098:exon13:c.C4620T:p.V1540V,VCAN:NM_004385:exon14:c.C9882T:p.V3294V 0.99 1. 0.99 1. 0.98 1. 0.9755 0.9940 0.9906 1 0.9584 0.9649 0.9791 0.9900 0.97 0.99 0.97 0.97 0.93 rs308365 . . Benign|Benign|Benign not_specified|Vitreoretinopathy|Wagner_syndrome RCV000245890.1|RCV000269869.1|RCV000308582.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT CN169374|HP:0007773:C1850109|C0339540:143200:232064001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9755 0.9940 0.9889 0.9834 1 0.9584 0.9638 0.9717 0.9906 0.9680 0.9919 0.9845 0.9801 0.9994 0.9602 0.9516 0.9654 hom 4254.46 138 5 82875800 . C T 4254.46 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8893;MQ=58.98;MQ0=0;QD=30.83;VQSLOD=9.5310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4254,325,0 5 82940273 82940273 C G exonic HAPLN1 synonymous SNV HAPLN1:NM_001884:exon4:c.G684C:p.G228G 0.74 0.87 0.76 0.58 0.72 0.73 0.7017 0.8570 0.7386 0.5741 0.6407 0.6876 0.6958 0.7273 0.74 0.85 0.68 0.73 0.7 rs2242128 COSM4407163 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6983 0.8621 0.7392 0.7486 0.5608 0.6416 0.6824 0.6982 0.7320 0.7157 0.8582 0.7368 0.7020 0.5378 0.6352 0.6701 0.7133 hom 2514.95 85 5 82940273 . C G 2514.95 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;QD=29.59;VQSLOD=8.4149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2548,199,0 5 87498849 87498849 G A exonic TMEM161B synonymous SNV TMEM161B:NM_001349405:exon7:c.C298T:p.L100L,TMEM161B:NM_001349402:exon8:c.C298T:p.L100L,TMEM161B:NM_001349403:exon8:c.C298T:p.L100L,TMEM161B:NM_001289007:exon9:c.C844T:p.L282L,TMEM161B:NM_001349400:exon9:c.C298T:p.L100L,TMEM161B:NM_001349407:exon9:c.C844T:p.L282L,TMEM161B:NM_153354:exon9:c.C844T:p.L282L,TMEM161B:NM_001289008:exon10:c.C811T:p.L271L 0.48 0.1 0.61 0.79 0.59 0.47 0.5602 0.1773 0.6394 0.7674 0.6217 0.5988 0.5319 0.4581 0.47 0.19 0.61 0.47 0.6 rs3097146 COSM5021476 1(bone);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5708 0.1705 0.6300 0.4269 0.7706 0.6238 0.6107 0.5655 0.4572 0.5041 0.1860 0.6178 0.43 0.7887 0.6308 0.6197 0.5758 hom 2701.44 92 5 87498849 . G A 2701.44 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=29.36;VQSLOD=8.4820;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2734,205,0 5 89703641 89703641 C G exonic CETN3 nonsynonymous SNV CETN3:NM_001297765:exon2:c.G28C:p.V10L,CETN3:NM_001297768:exon2:c.G28C:p.V10L,CETN3:NM_004365:exon2:c.G28C:p.V10L 0.19 0.063 0.16 0.2 0.26 0.28 0.2291 0.0898 0.1445 0.2306 0.1904 0.2581 0.2444 0.2726 0.21 0.094 0.27 0.17 0.12 rs4873 . . . . . . . . . . . . . 0.332 0.130 T 0.0 0.026 B 0.001 0.040 B 0.120 0.190 N 0.971 0.257 P 0.345 0.112 N -0.13 0.734 T -0.43 0.154 N 0.047 0.059 -1.091 0.054 T 0.000 0.000 T . . . 2.311 0.339 18.24 0.983 0.398 0.878 0.472 D c -0.496 -0.274 1.000 0.747 0.706 0.609 0 3.64 0.407 1.077 0.301 0.935 0.490 0.998 0.411 0.994 0.587 8.043 0.295 . ENSG00000113356.6 Adrenal_Gland 0.2250 0.0838 0.1476 0.2309 0.2374 0.1835 0.2616 0.2191 0.2650 0.1984 0.0861 0.1711 0.2086 0.2460 0.1964 0.2593 0.2181 het 771.77 68 5 89703641 . C G 771.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.098;DP=68;Dels=0.00;FS=0.899;HRun=0;HaplotypeScore=0.0000;MQ=57.53;MQ0=0;MQRankSum=0.822;QD=11.35;ReadPosRankSum=-0.920;VQSLOD=4.5613;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:802,0,834 5 89769728 89769728 T C exonic MBLAC2 nonsynonymous SNV MBLAC2:NM_203406:exon1:c.A382G:p.T128A 0.98 1. 1. 0.92 1. 1. 0.9948 0.9991 0.9997 0.9339 1 0.9999 0.9956 0.9994 1. 1. 1. 0.98 0.69 rs2162986 COSM1754361 1(urinary_tract) . . . . . . . . . . . 0.539 0.068 T 0.0 0.026 B 0.0 0.013 B 0.001 0.416 N 1.000 0.090 P -1.655 0.004 N -0.52 0.707 T 1.03 0.015 N 0.03 0.054 -0.959 0.393 T 0.000 0.000 T . . . 0.726 0.163 8.996 0.847 0.149 0.096 0.151 N c -0.770 -0.488 1.000 0.747 0.493 0.174 0 4.47 0.536 1.385 0.338 0.016 0.142 1.000 0.715 0.998 0.697 8.176 0.303 Metallo-beta-lactamase . . 0.9945 0.9988 0.9998 1 0.9276 1 0.9999 0.9976 0.9994 0.9958 0.9991 0.9988 1 0.9277 1 0.9999 0.9990 hom 429.44 16 5 89769728 . T C 429.44 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.84;VQSLOD=13.6640;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:36.10:462,36,0 5 89820984 89820984 T C exonic LYSMD3 synonymous SNV LYSMD3:NM_001286812:exon2:c.A123G:p.E41E,LYSMD3:NM_198273:exon2:c.A123G:p.E41E 0.61 0.77 0.43 0.61 0.54 0.61 0.5627 0.7307 0.4075 0.5911 0.5409 0.5530 0.5791 0.6037 0.61 0.72 0.56 0.62 0.44 rs10069050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5518 0.7318 0.4135 0.5652 0.5933 0.5367 0.5507 0.5274 0.6052 0.6046 0.7257 0.4545 0.5533 0.5759 0.5556 0.5622 0.5420 hom 3641.65 121 5 89820984 . T C 3641.65 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6147;MQ=59.31;MQ0=0;QD=30.10;VQSLOD=8.5015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3641,271,0 5 90024735 90024735 G A exonic ADGRV1 nonsynonymous SNV ADGRV1:NM_032119:exon49:c.G10411A:p.E3471K 0.83 0.94 0.83 0.82 0.7 0.83 0.7484 0.9126 0.8576 0.7844 0.7301 0.6851 0.7136 0.8196 0.75 0.9 0.69 0.87 . rs2366928 . . other not_specified RCV000039504.6 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.333 N 1.000 0.189 P -2.43 0.001 N 1.81 0.252 T 0.86 0.017 N 0.084 0.507 -0.960 0.391 T 0.000 0.000 T . . . 2.022 0.304 16.35 0.309 0.017 0.024 0.067 N c -0.884 -0.581 0.072 0.156 0.651 0.465 0 5.6 0.849 4.391 0.592 0.244 0.267 1.000 0.715 0.975 0.474 11.643 0.503 . . . 0.7500 0.9098 0.8530 0.7209 0.7831 0.7270 0.6816 0.7374 0.8153 0.7566 0.9025 0.8170 0.7318 0.7915 0.7171 0.6754 0.7388 het 495.54 52 5 90024735 . G A 495.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.528;DP=52;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9665;MQ=58.83;MQ0=0;MQRankSum=-0.417;QD=9.53;ReadPosRankSum=1.287;VQSLOD=6.2056;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:526,0,764 5 90107108 90107108 A G exonic ADGRV1 nonsynonymous SNV ADGRV1:NM_032119:exon74:c.A16031G:p.E5344G 0.95 0.83 0.97 1. 0.98 1. 0.9686 0.8514 0.9809 1 0.9804 0.9723 0.9697 0.9934 0.94 0.85 0.97 0.96 . rs2438374 . . other not_specified RCV000039538.9 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.559 N 1.000 0.182 P -1.655 0.004 N 1.84 0.258 T 1.9 0.005 N 0.029 0.022 -0.970 0.371 T 0.000 0.000 T . . . 1.122 0.202 11.33 0.240 0.010 0.136 0.178 N c -0.797 -0.581 0.004 0.104 0.706 0.609 0 4.61 0.566 1.710 0.373 0.138 0.222 0.966 0.337 0.798 0.336 7.885 0.286 Na-Ca exchanger/integrin-beta4 . . 0.9697 0.8457 0.9797 0.9243 1 0.9810 0.9744 0.9679 0.9932 0.9407 0.8437 0.9702 0.8874 1 0.9814 0.9789 0.9654 hom 1544.61 50 5 90107108 . A G 1544.61 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8218;MQ=58.66;MQ0=0;QD=30.89;VQSLOD=8.9685;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1578,120,0 5 90119324 90119324 G A exonic ADGRV1 nonsynonymous SNV ADGRV1:NM_032119:exon76:c.G16279A:p.V5427M 0.97 0.9 0.99 1. 1. 1. 0.9920 0.9120 0.9955 1 1 0.9994 0.9944 0.9998 0.97 0.91 1. 0.98 . rs2438378 . . other not_specified RCV000039541.6 MedGen CN169374 . . . . . . 0.301 0.183 T 0.003 0.119 B 0.009 0.176 B 0.286 0.039 N 1 0.090 P 0 0.065 N 1.61 0.284 T 0.33 0.049 N 0.005 0.000 -0.978 0.354 T 0.000 0.000 T . . . -1.122 0.028 0.009 0.552 0.052 0.013 0.045 N c -2.256 -2.309 0.919 0.266 0.706 0.609 0 -9.65 0.004 -0.120 0.105 -1.926 0.005 0.000 0.063 0.001 0.043 14.119 0.646 Na-Ca exchanger/integrin-beta4 . . 0.9930 0.9078 0.9950 0.9965 1 1 0.9995 0.9936 0.9997 0.9734 0.9083 0.9916 1 1 1 0.9995 0.9898 hom 5142.58 180 5 90119324 . G A 5142.58 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;QD=28.57;VQSLOD=8.4390;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5142,400,0 5 90449154 90449154 G A exonic ADGRV1 synonymous SNV ADGRV1:NM_032119:exon89:c.G18741A:p.G6247G 0.14 0.15 0.086 0.12 0.12 0.2 0.1275 0.1474 0.0889 0.1328 0.1162 0.1163 0.1047 0.1927 0.12 0.14 0.11 0.17 . rs13158963 COSM3761375 1(large_intestine) other not_specified RCV000039556.6 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1175 0.1384 0.0886 0.1180 0.1241 0.1085 0.1088 0.1087 0.1755 0.1163 0.1401 0.0889 0.1159 0.1300 0.1037 0.1049 0.1232 het 268.03 27 5 90449154 . G A 268.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.949;DP=27;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=0.0000;MQ=57.73;MQ0=0;MQRankSum=-0.123;QD=9.93;ReadPosRankSum=0.370;VQSLOD=4.9361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:298,0,484 5 94749723 94749723 G A exonic FAM81B synonymous SNV FAM81B:NM_152548:exon4:c.G366A:p.A122A 0.22 0.24 0.24 0.11 0.33 0.16 0.2495 0.2532 0.1778 0.1255 0.2214 0.3020 0.2733 0.1597 0.28 0.25 0.29 0.36 0.3 rs7726891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2479 0.2529 0.1856 0.4151 0.1242 0.2179 0.2985 0.2816 0.1613 0.2661 0.2712 0.2237 0.3742 0.1309 0.2135 0.2903 0.2659 hom 4377.26 142 5 94749723 . G A 4377.26 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=30.83;VQSLOD=9.4240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:142:99:4377,352,0 5 94772540 94772540 C T exonic FAM81B nonsynonymous SNV FAM81B:NM_152548:exon7:c.C823T:p.P275S 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 1.0000 1 0.9995 . . . 1. 1. rs6878669 COSM4591005 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 1 1 1 1 1 1 0.9994 1.0000 1 1 1 1 1 0.9999 1 hom 2192.10 81 5 94772540 . C T 2192.10 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.06;VQSLOD=13.8638;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2225,166,0 5 94826655 94826655 C A exonic TTC37 nonsynonymous SNV TTC37:NM_014639:exon37:c.G3888T:p.R1296S 0.23 0.4 0.18 0.12 0.17 0.2 0.1824 0.3932 0.1622 0.1294 0.1164 0.1629 0.1785 0.1976 0.23 0.37 0.16 0.29 0.17 rs2303650 COSM3761382 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.086 0.326 T 0.704 0.400 P 0.231 0.366 B 0.000 0.843 N 0.117 0.358 P 2.135 0.597 M -1.18 0.783 T -1.54 0.373 N 0.174 0.211 -0.994 0.316 T 0.000 0.000 T . . . 3.883 0.523 23.5 0.993 0.588 0.946 0.615 D c -0.127 -0.040 0.933 0.271 0.732 0.924 0 3.23 0.360 1.327 0.331 0.063 0.168 0.962 0.335 0.992 0.562 5.884 0.180 . ENSG00000153347.5|ENSG00000153347.5|ENSG00000198677.6|ENSG00000153347.5|ENSG00000198677.6|ENSG00000198677.6 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.1781 0.3982 0.1652 0.3329 0.1243 0.1197 0.1521 0.1969 0.1966 0.2113 0.3909 0.1933 0.3013 0.1136 0.1077 0.1434 0.1724 het 1020.70 79 5 94826655 . C A 1020.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.558;DP=79;Dels=0.00;FS=6.130;HRun=0;HaplotypeScore=0.9987;MQ=59.76;MQ0=0;MQRankSum=-0.662;QD=12.92;ReadPosRankSum=-1.143;VQSLOD=5.3228;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,41:79:99:1051,0,1054 5 94861118 94861118 G C exonic TTC37 nonsynonymous SNV TTC37:NM_014639:exon15:c.C1309G:p.L437V 0.24 0.42 0.18 0.12 0.18 0.23 0.1927 0.4056 0.1665 0.1303 0.1176 0.1688 0.1839 0.2375 0.24 0.39 0.16 0.29 0.13 rs17084873 COSM3761383 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.288 0.151 T 0.002 0.102 B 0.004 0.112 B 0.212 0.163 N 1 0.090 P 0.205 0.094 N 0.31 0.759 T -0.66 0.191 N 0.069 0.056 -1.007 0.279 T 0.000 0.000 T . . . 1.439 0.236 12.99 0.970 0.316 0.533 0.291 D c -0.461 -0.259 0.925 0.268 0.732 0.924 0 3.87 0.437 1.213 0.318 -0.297 0.082 0.845 0.301 0.983 0.502 5.587 0.165 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain ENSG00000153347.5|ENSG00000153347.5|ENSG00000198677.6|ENSG00000153347.5|ENSG00000198677.6|ENSG00000198677.6 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.1876 0.4105 0.1701 0.3412 0.1247 0.1204 0.1582 0.2026 0.2343 0.2174 0.4036 0.2005 0.3079 0.1119 0.1078 0.1475 0.1857 het 1681.02 145 5 94861118 . G C 1681.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.632;DP=145;Dels=0.00;FS=0.619;HRun=0;HaplotypeScore=7.9333;MQ=58.51;MQ0=0;MQRankSum=0.927;QD=11.59;ReadPosRankSum=0.967;VQSLOD=4.7644;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,71:145:99:1711,0,1732 5 94939193 94939193 A G exonic ARSK nonsynonymous SNV ARSK:NM_198150:exon8:c.A1574G:p.Q525R 0.073 0.036 0.059 0.11 0.057 0.11 0.0633 0.0326 0.1025 0.1254 0.0380 0.0458 0.0727 0.1032 0.039 0.033 0.042 0.033 0.057 rs17084927 COSM3761384 1(large_intestine) . . . . . . . . . . . 0.809 0.030 T 0.0 0.026 B 0.0 0.013 B 0.756 0.097 N 1 0.090 P 0.11 0.085 N -4.75 0.981 D -0.11 0.087 N 0.038 0.018 -0.502 0.686 T 0.033 0.140 T . . . -0.983 0.033 0.017 0.419 0.030 0.056 0.113 N c -1.267 -1.231 0.133 0.171 0.615 0.372 0 -2.58 0.058 0.249 0.179 1.194 0.916 0.000 0.063 0.489 0.269 8.007 0.293 . . . 0.0639 0.0319 0.0943 0.1167 0.1185 0.0421 0.0404 0.0720 0.0997 0.0449 0.0345 0.0859 0.0762 0.1056 0.0361 0.0420 0.0692 het 558.31 49 5 94939193 . A G 558.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.707;DP=49;Dels=0.00;FS=1.171;HRun=1;HaplotypeScore=2.9978;MQ=57.89;MQ0=0;MQRankSum=-0.197;QD=11.39;ReadPosRankSum=0.714;VQSLOD=5.2348;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,23:49:99:588,0,687 5 95728898 95728898 C G exonic PCSK1 nonsynonymous SNV PCSK1:NM_000439:exon14:c.G2069C:p.S690T,PCSK1:NM_001177875:exon14:c.G1928C:p.S643T 0.24 0.13 0.23 0.36 0.26 0.28 0.2653 0.1525 0.2065 0.3096 0.2939 0.2745 0.2742 0.3048 0.24 0.16 0.28 0.2 0.26 rs6235 COSM3761392 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign|Likely benign Monogenic_Non-Syndromic_Obesity|Proprotein_convertase_1/3_deficiency RCV000304198.1|RCV000404859.1 MedGen|MedGen:OMIM:Orphanet CN239457|C1833053:600955:ORPHA71528 Proinsulin levels . . 21873549 rs6235 1E-26 0.186 0.214 T 0.003 0.102 B 0.004 0.093 B 0.001 0.404 N 1.000 0.207 P 0.805 0.203 L -0.05 0.661 T -0.85 0.232 N 0.032 0.014 -1.051 0.140 T 0.000 0.000 T . . . 1.362 0.227 12.59 0.932 0.223 0.129 0.174 N c -0.394 -0.292 0.462 0.206 0.615 0.372 0 3.95 0.448 1.038 0.297 0.935 0.490 0.001 0.137 0.982 0.498 9.522 0.381 . . . 0.2630 0.1497 0.1988 0.2888 0.3069 0.2854 0.2732 0.2531 0.3047 0.2345 0.1566 0.1811 0.2933 0.3178 0.2823 0.2580 0.2883 het 1649.21 107 5 95728898 . C G 1649.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.081;DP=107;Dels=0.00;FS=0.785;HRun=0;HaplotypeScore=4.7262;MQ=58.50;MQ0=0;MQRankSum=-1.345;QD=15.41;ReadPosRankSum=1.557;VQSLOD=3.9921;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,64:107:99:1679,0,1180 5 95728974 95728974 G C exonic PCSK1 nonsynonymous SNV PCSK1:NM_000439:exon14:c.C1993G:p.Q665E,PCSK1:NM_001177875:exon14:c.C1852G:p.Q618E 0.26 0.18 0.23 0.36 0.26 0.28 0.2688 0.1879 0.2079 0.3085 0.2939 0.2749 0.2726 0.3066 0.25 0.19 0.28 0.21 0.24 rs6234 COSM5003991 1(pancreas) Likely benign|Likely benign Proprotein_convertase_1/3_deficiency|Monogenic_Non-Syndromic_Obesity RCV000342685.1|RCV000397598.1 MedGen:OMIM:Orphanet|MedGen C1833053:600955:ORPHA71528|CN239457 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.463 0.124 N 1 0.090 P -0.695 0.019 N 0.05 0.645 T 0.13 0.055 N 0.008 0.009 -1.002 0.294 T 0.000 0.000 T . . . -2.504 0.003 0.001 0.603 0.063 0.015 0.049 N c -1.590 -1.511 0.122 0.169 0.615 0.372 0 -0.272 0.122 0.110 0.152 -0.883 0.027 0.006 0.172 0.040 0.157 11.181 0.477 . . . 0.2659 0.1874 0.2004 0.2887 0.3053 0.2856 0.2737 0.2533 0.3070 0.2447 0.1916 0.1830 0.2947 0.3165 0.2827 0.2583 0.2920 het 925.46 76 5 95728974 . G C 925.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.265;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8229;MQ=58.23;MQ0=0;MQRankSum=0.344;QD=12.18;ReadPosRankSum=0.111;VQSLOD=4.9675;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,38:76:99:955,0,1011 5 95733112 95733112 A G exonic PCSK1 synonymous SNV PCSK1:NM_000439:exon12:c.T1650C:p.N550N,PCSK1:NM_001177875:exon12:c.T1509C:p.N503N 0.34 0.41 0.41 0.24 0.37 0.29 0.3528 0.4194 0.4585 0.2742 0.2121 0.3623 0.3477 0.2955 0.39 0.41 0.38 0.41 0.39 rs6233 . . Likely benign|Likely benign Proprotein_convertase_1/3_deficiency|Monogenic_Non-Syndromic_Obesity RCV000275790.1|RCV000368049.1 MedGen:OMIM:Orphanet|MedGen C1833053:600955:ORPHA71528|CN239457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3573 0.4174 0.4672 0.4226 0.2696 0.2171 0.3676 0.3732 0.2971 0.3581 0.4192 0.4653 0.3907 0.2974 0.2223 0.3564 0.3235 het 1310.65 85 5 95733112 . A G 1310.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.094;DP=85;Dels=0.00;FS=9.238;HRun=0;HaplotypeScore=0.9973;MQ=59.49;MQ0=0;MQRankSum=-0.076;QD=15.42;ReadPosRankSum=-1.013;VQSLOD=4.5627;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,50:85:99:1341,0,957 5 96116808 96116808 G A exonic ERAP1 synonymous SNV ERAP1:NM_001040458:exon17:c.C2542T:p.L848L,ERAP1:NM_001198541:exon17:c.C2542T:p.L848L,ERAP1:NM_001349244:exon17:c.C2542T:p.L848L,ERAP1:NM_016442:exon17:c.C2542T:p.L848L 0.06 0.0053 0.11 . 0.14 0.076 0.1011 0.0209 0.0639 0.0029 0.1179 0.1373 0.1079 0.0754 0.098 0.023 0.14 0.022 0.13 rs17481856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1003 0.0201 0.0725 0.1272 0.0011 0.1187 0.1346 0.1179 0.0771 0.0885 0.0223 0.0813 0.1258 0.0006 0.1163 0.1267 0.1330 het 1183.90 111 5 96116808 . G A 1183.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.445;DP=111;Dels=0.00;FS=9.035;HRun=1;HaplotypeScore=7.2934;MQ=59.46;MQ0=0;MQRankSum=-1.458;QD=10.67;ReadPosRankSum=0.775;VQSLOD=3.1162;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,49:111:99:1214,0,1746 5 96118852 96118852 G C exonic ERAP1 nonsynonymous SNV ERAP1:NM_001040458:exon15:c.C2188G:p.Q730E,ERAP1:NM_001198541:exon15:c.C2188G:p.Q730E,ERAP1:NM_001349244:exon15:c.C2188G:p.Q730E,ERAP1:NM_016442:exon15:c.C2188G:p.Q730E 0.68 0.71 0.65 0.57 0.71 0.73 0.6939 0.7107 0.6677 0.4948 0.6973 0.7131 0.6784 0.7275 0.71 0.71 0.71 0.7 0.7 rs27044 COSM4419727 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.62 0.056 T 0.022 0.196 B 0.035 0.214 B 0.042 0.239 N 1.000 0.202 P 1.065 0.271 L 3.41 0.056 T 0.2 0.049 N 0.038 0.100 -0.976 0.359 T 0.000 0.000 T . . . -0.586 0.051 0.135 0.612 0.065 0.296 0.236 N c -0.637 -0.492 1.000 0.446 0.706 0.609 0 4.78 0.605 0.778 0.262 0.095 0.197 0.051 0.212 0.791 0.333 5.458 0.158 ERAP1-like C-terminal domain ENSG00000164307.8|ENSG00000272109.1|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164308.12|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000272109.1|ENSG00000164307.8|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000272109.1|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000272109.1|ENSG00000248734.2|ENSG00000164307.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Whole_Blood|Whole_Blood 0.6917 0.7170 0.6573 0.6928 0.4955 0.6951 0.7183 0.6893 0.7273 0.7098 0.7257 0.6739 0.7252 0.5081 0.7041 0.7275 0.6765 het 4070.61 249 5 96118852 . G C 4070.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.553;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3697;MQ=59.31;MQ0=0;MQRankSum=-1.548;QD=16.35;ReadPosRankSum=0.134;VQSLOD=3.6414;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:123,126:249:99:3432,0,3383 5 96121524 96121524 C T exonic ERAP1 synonymous SNV ERAP1:NM_001040458:exon13:c.G1911A:p.A637A,ERAP1:NM_001198541:exon13:c.G1911A:p.A637A,ERAP1:NM_001349244:exon13:c.G1911A:p.A637A,ERAP1:NM_016442:exon13:c.G1911A:p.A637A 0.56 0.59 0.54 0.54 0.56 0.55 0.5531 0.5853 0.5897 0.4749 0.5780 0.5537 0.5198 0.5376 0.56 0.57 0.56 0.53 0.45 rs469783 COSM4419152 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5533 0.5861 0.5784 0.4425 0.4780 0.5798 0.5628 0.5327 0.5375 0.5776 0.5861 0.5916 0.4636 0.4957 0.5956 0.5814 0.5367 het 1035.28 89 5 96121524 . C T 1035.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.531;DP=89;Dels=0.00;FS=4.141;HRun=1;HaplotypeScore=3.9227;MQ=57.64;MQ0=0;MQRankSum=-1.748;QD=11.63;ReadPosRankSum=0.502;VQSLOD=3.7526;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,41:89:99:1065,0,1197 5 96124330 96124330 T C exonic ERAP1 nonsynonymous SNV ERAP1:NM_001040458:exon11:c.A1583G:p.K528R,ERAP1:NM_001198541:exon11:c.A1583G:p.K528R,ERAP1:NM_001349244:exon11:c.A1583G:p.K528R,ERAP1:NM_016442:exon11:c.A1583G:p.K528R 0.6 0.6 0.6 0.55 0.65 0.59 0.6211 0.6050 0.6215 0.4776 0.6570 0.6453 0.5969 0.5952 0.63 0.6 0.64 0.63 0.57 rs30187 COSM4160065 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . Ankylosing spondylitis . . 21743469 rs30187 2E-27 0.073 0.359 T 0.991 0.715 D 0.889 0.699 P 0.000 0.843 D 0.001 0.454 P 3.695 0.947 H 3.58 0.046 T -1.92 0.446 N 0.188 0.444 -1.002 0.295 T 0.000 0.000 T . . . 5.577 0.759 26.4 0.998 0.913 0.992 0.932 D c 0.791 0.783 1.000 0.747 0.672 0.522 0 6.17 0.997 7.427 0.793 1.061 0.807 1.000 0.715 0.998 0.697 16.484 0.839 . ENSG00000164307.8|ENSG00000272109.1|ENSG00000272109.1|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164308.12|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000272109.1|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000272109.1|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000272109.1|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000272109.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6203 0.6072 0.6117 0.5557 0.4792 0.6540 0.6533 0.6053 0.5944 0.6380 0.6137 0.6283 0.5533 0.4957 0.6706 0.6644 0.6020 het 1298.76 81 5 96124330 . T C 1298.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.387;DP=81;Dels=0.00;FS=15.312;HRun=3;HaplotypeScore=2.9979;MQ=59.72;MQ0=0;MQRankSum=-0.102;QD=16.03;ReadPosRankSum=-1.329;VQSLOD=3.5669;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,46:81:99:1329,0,991 5 96126308 96126308 A G exonic ERAP1 synonymous SNV ERAP1:NM_001040458:exon9:c.T1359C:p.S453S,ERAP1:NM_001198541:exon9:c.T1359C:p.S453S,ERAP1:NM_001349244:exon9:c.T1359C:p.S453S,ERAP1:NM_016442:exon9:c.T1359C:p.S453S 0.6 0.6 0.6 0.55 0.65 0.59 0.6202 0.6042 0.6194 0.4759 0.6563 0.6445 0.5969 0.5948 0.63 0.6 0.64 0.63 0.56 rs27529 COSM4417795 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6199 0.6068 0.6111 0.5559 0.4790 0.6539 0.6529 0.6051 0.5943 0.6377 0.6132 0.6277 0.5563 0.4950 0.6704 0.6640 0.6043 het 927.78 109 5 96126308 . A G 927.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.784;DP=109;Dels=0.00;FS=3.795;HRun=0;HaplotypeScore=3.4317;MQ=60.00;MQ0=0;MQRankSum=-0.419;QD=8.51;ReadPosRankSum=-1.142;VQSLOD=4.7785;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,37:109:99:958,0,1984 5 96127833 96127833 G A exonic ERAP1 synonymous SNV ERAP1:NM_001040458:exon8:c.C1251T:p.H417H,ERAP1:NM_001198541:exon8:c.C1251T:p.H417H,ERAP1:NM_001349244:exon8:c.C1251T:p.H417H,ERAP1:NM_016442:exon8:c.C1251T:p.H417H 0.097 0.014 0.25 0.027 0.15 0.12 0.1318 0.0296 0.2293 0.0290 0.1393 0.1473 0.1322 0.1158 0.11 0.032 0.14 0.054 0.14 rs3213809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1357 0.0288 0.2270 0.1308 0.0282 0.1404 0.1431 0.1470 0.1188 0.1031 0.0290 0.2088 0.1291 0.0285 0.1437 0.135 0.1538 het 1259.84 91 5 96127833 . G A 1259.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.190;DP=91;Dels=0.00;FS=2.851;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=-0.784;QD=13.84;ReadPosRankSum=-0.283;VQSLOD=6.1745;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,49:91:99:1290,0,1151 5 96129512 96129512 A G exonic ERAP1 synonymous SNV ERAP1:NM_001040458:exon6:c.T1068C:p.A356A,ERAP1:NM_001198541:exon6:c.T1068C:p.A356A,ERAP1:NM_001349244:exon6:c.T1068C:p.A356A,ERAP1:NM_016442:exon6:c.T1068C:p.A356A 0.65 0.58 0.71 0.55 0.79 0.67 0.7221 0.6096 0.6848 0.4808 0.7755 0.7834 0.7056 0.6761 0.72 0.6 0.78 0.64 0.66 rs27434 COSM4416463 1(haematopoietic_and_lymphoid_tissue) . . . . . Ankylosing spondylitis 0.84 . 20062062 rs27434 5E-12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7192 0.6089 0.6831 0.6838 0.4801 0.7724 0.7874 0.7227 0.6730 0.7216 0.6184 0.7086 0.6833 0.4963 0.7873 0.7909 0.7372 hom 1472.71 45 5 96129512 . A G 1472.71 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.73;VQSLOD=14.1456;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1506,117,0 5 96139250 96139250 C G exonic ERAP1 nonsynonymous SNV ERAP1:NM_001040458:exon2:c.G380C:p.R127P,ERAP1:NM_001198541:exon2:c.G380C:p.R127P,ERAP1:NM_001349244:exon2:c.G380C:p.R127P,ERAP1:NM_016442:exon2:c.G380C:p.R127P 0.56 0.48 0.59 0.52 0.72 0.54 0.6387 0.5209 0.5549 0.4533 0.7179 0.7109 0.6289 0.5454 0.65 0.53 0.71 0.6 0.62 rs26653 COSM4160066 1(pancreas);1(thyroid) . . . . . . . . . . . 0.229 0.184 T 0.0 0.026 B 0.002 0.063 B 0.575 0.112 N 1 0.090 P -1.615 0.004 N 4.21 0.301 T 1.17 0.054 N 0.127 0.144 -0.993 0.319 T 0.000 0.000 T . . . 0.569 0.148 7.937 0.646 0.073 0.002 0.012 N c -1.227 -1.139 1.000 0.443 0.706 0.609 0 3.71 0.416 0.537 0.227 0.133 0.217 0.000 0.063 0.016 0.126 6.188 0.196 Peptidase M1\x2c membrane alanine aminopeptidase\x2c N-terminal ENSG00000164307.8|ENSG00000272109.1|ENSG00000164308.12|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000272109.1|ENSG00000248734.2|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Whole_Blood|Whole_Blood 0.6381 0.5249 0.5585 0.5799 0.4542 0.7164 0.7194 0.6544 0.5485 0.6481 0.5393 0.5801 0.5867 0.4689 0.7229 0.7165 0.6714 hom 2516.73 71 5 96139250 . C G 2516.73 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.8941;MQ=59.41;MQ0=0;QD=35.45;VQSLOD=9.3113;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2550,205,0 5 96139464 96139464 C T exonic ERAP1 nonsynonymous SNV ERAP1:NM_001040458:exon2:c.G166A:p.E56K,ERAP1:NM_001198541:exon2:c.G166A:p.E56K,ERAP1:NM_001349244:exon2:c.G166A:p.E56K,ERAP1:NM_016442:exon2:c.G166A:p.E56K 0.086 0.081 0.086 0.17 0.041 0.05 0.0664 0.0679 0.1614 0.1446 0.0999 0.0402 0.0573 0.0509 0.046 0.059 0.04 0.043 0.041 rs3734016 COSM4418606 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.706 0.095 T 0.004 0.135 B 0.01 0.139 B 0.036 0.246 N 1 0.090 P -0.535 0.025 N 3.71 0.041 T -0.05 0.078 N 0.059 0.071 -0.933 0.437 T 0.000 0.000 T . . . 0.872 0.177 9.899 0.903 0.190 0.036 0.087 N c -0.850 -0.697 1.000 0.434 0.706 0.609 0 2.44 0.287 -0.024 0.123 0.848 0.348 0.000 0.063 0.931 0.405 1.208 0.018 Peptidase M1\x2c membrane alanine aminopeptidase\x2c N-terminal ENSG00000248734.2|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8|ENSG00000248734.2|ENSG00000248734.2|ENSG00000164307.8|ENSG00000248734.2|ENSG00000164307.8 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.0704 0.0655 0.1513 0.0255 0.1447 0.0974 0.0393 0.0623 0.0522 0.0648 0.0695 0.1313 0.0167 0.1557 0.1029 0.0403 0.0692 het 1918.40 142 5 96139464 . C T 1918.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.110;DP=142;Dels=0.00;FS=11.072;HRun=1;HaplotypeScore=4.8600;MQ=59.21;MQ0=0;MQRankSum=-2.008;QD=13.51;ReadPosRankSum=-0.029;VQSLOD=3.3707;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,73:142:99:1948,0,2065 5 96139595 96139595 G A exonic ERAP1 nonsynonymous SNV ERAP1:NM_001040458:exon2:c.C35T:p.T12I,ERAP1:NM_001198541:exon2:c.C35T:p.T12I,ERAP1:NM_001349244:exon2:c.C35T:p.T12I,ERAP1:NM_016442:exon2:c.C35T:p.T12I 0.071 0.0053 0.16 0.004 0.14 0.096 0.1113 0.0214 0.1328 0.0061 0.1182 0.1378 0.1175 0.0977 0.098 0.024 0.14 0.043 0.15 rs72773968 . . . . . . . . . . . . . 0.04 0.450 D 0.624 0.410 P 0.206 0.418 B 0.542 0.053 N 1 0.090 P 0.805 0.203 L 5.03 0.361 T 0.25 0.061 N 0.303 0.363 -1.008 0.275 T 0.000 0.002 T . . . 1.432 0.235 12.95 0.976 0.341 0.070 0.129 N c -0.705 -0.758 1.000 0.480 0.706 0.609 0 2.49 0.291 0.505 0.222 -0.419 0.060 0.001 0.137 0.004 0.083 14.431 0.667 . ENSG00000248734.2|ENSG00000248734.2|ENSG00000248734.2|ENSG00000248734.2|ENSG00000164308.12 Breast_Mammary_Tissue|Lung|Nerve_Tibial|Thyroid|Whole_Blood 0.1122 0.0205 0.1332 0.1291 0.0044 0.1207 0.1347 0.1280 0.0997 0.0900 0.0226 0.1283 0.1258 0.0031 0.1160 0.1266 0.1367 het 1356.44 127 5 96139595 . G A 1356.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.189;DP=127;Dels=0.00;FS=4.430;HRun=0;HaplotypeScore=2.7472;MQ=59.71;MQ0=0;MQRankSum=0.265;QD=10.68;ReadPosRankSum=-0.609;VQSLOD=5.0881;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,56:127:99:1386,0,1911 5 96231000 96231000 G T exonic ERAP2 nonsynonymous SNV ERAP2:NM_001329229:exon6:c.G1041T:p.K347N,ERAP2:NM_001130140:exon7:c.G1176T:p.K392N,ERAP2:NM_022350:exon7:c.G1176T:p.K392N 0.55 0.6 0.58 0.53 0.52 0.53 0.5476 0.5763 0.6186 0.5876 0.5334 0.5198 0.5749 0.5752 0.54 0.58 0.52 0.55 0.52 rs2549782 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.460 N 0.998 0.225 P -2.385 0.001 N 4.9 0.015 T 5.23 0.000 N 0.055 0.202 -1.043 0.165 T 0.000 0.000 T . . . 0.126 0.106 3.882 0.733 0.100 0.029 0.076 N c -1.520 -1.240 0.989 0.315 0.651 0.465 0 0.68 0.171 0.181 0.166 -0.451 0.056 0.991 0.370 0.961 0.442 3.452 0.070 Peptidase M1\x2c membrane alanine aminopeptidase\x2c N-terminal ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000113441.11|ENSG00000164307.8|ENSG00000213702.2|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000113441.11|ENSG00000213702.2|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12|ENSG00000164308.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.5482 0.5747 0.6203 0.5765 0.5899 0.5251 0.5116 0.5457 0.5743 0.5347 0.5681 0.5971 0.5497 0.5829 0.5230 0.5081 0.5483 het 1309.12 108 5 96231000 . G T 1309.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.138;DP=108;Dels=0.00;FS=0.717;HRun=0;HaplotypeScore=4.2329;MQ=58.46;MQ0=0;MQRankSum=0.946;QD=12.12;ReadPosRankSum=-1.997;VQSLOD=5.1339;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,55:108:99:1339,0,1393 5 96232142 96232142 T A exonic ERAP2 synonymous SNV ERAP2:NM_001329229:exon7:c.T1170A:p.P390P,ERAP2:NM_001130140:exon8:c.T1305A:p.P435P,ERAP2:NM_022350:exon8:c.T1305A:p.P435P 0.55 0.6 0.58 0.53 0.52 0.53 0.5479 0.5786 0.6194 0.5878 0.5340 0.5198 0.5762 0.5753 0.54 0.58 0.52 0.55 0.52 rs2548538 COSM5420120 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5484 0.5741 0.6213 0.5764 0.5896 0.5252 0.5114 0.5458 0.5756 0.5345 0.5679 0.5959 0.5533 0.5817 0.5238 0.5078 0.5491 het 440.99 41 5 96232142 . T A 440.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.771;DP=41;Dels=0.00;FS=2.699;HRun=1;HaplotypeScore=2.5584;MQ=58.29;MQ0=0;MQRankSum=0.850;QD=10.76;ReadPosRankSum=0.745;VQSLOD=4.9715;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,19:41:99:471,0,617 5 96237326 96237326 G A exonic ERAP2 synonymous SNV ERAP2:NM_001329229:exon10:c.G1554A:p.Q518Q,ERAP2:NM_001130140:exon11:c.G1689A:p.Q563Q,ERAP2:NM_022350:exon11:c.G1689A:p.Q563Q 0.55 0.6 0.58 0.53 0.52 0.53 0.5478 0.5772 0.6191 0.5882 0.5340 0.5198 0.5762 0.5754 0.54 0.58 0.52 0.55 0.52 rs2287988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5484 0.5746 0.6211 0.5768 0.5897 0.5251 0.5113 0.5453 0.5755 0.5342 0.5675 0.5971 0.5570 0.5813 0.5238 0.5073 0.5479 het 1146.28 76 5 96237326 . G A 1146.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.821;DP=76;Dels=0.00;FS=8.754;HRun=1;HaplotypeScore=1.8110;MQ=58.78;MQ0=0;MQRankSum=0.197;QD=15.08;ReadPosRankSum=-1.684;VQSLOD=4.4311;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,39:76:99:1176,0,1070 5 96245343 96245343 C T exonic ERAP2 synonymous SNV ERAP2:NM_001329229:exon14:c.C2094T:p.G698G,ERAP2:NM_001130140:exon15:c.C2229T:p.G743G,ERAP2:NM_022350:exon15:c.C2229T:p.G743G 0.5 0.44 0.57 0.53 0.52 0.51 0.5330 0.4308 0.6116 0.5861 0.5331 0.5208 0.5672 0.5615 0.49 0.43 0.52 0.52 0.53 rs2549796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5370 0.4238 0.6136 0.5988 0.5890 0.5251 0.5113 0.5403 0.5620 0.4931 0.4220 0.5827 0.5833 0.5800 0.5235 0.5081 0.5407 het 2692.28 185 5 96245343 . C T 2692.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.970;DP=185;Dels=0.00;FS=3.442;HRun=1;HaplotypeScore=4.5117;MQ=59.37;MQ0=0;MQRankSum=-0.071;QD=14.55;ReadPosRankSum=0.315;VQSLOD=5.5413;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,105:185:99:2722,0,2231 5 96245439 96245439 C T exonic ERAP2 synonymous SNV ERAP2:NM_001329229:exon14:c.C2190T:p.S730S,ERAP2:NM_001130140:exon15:c.C2325T:p.S775S,ERAP2:NM_022350:exon15:c.C2325T:p.S775S 0.55 0.6 0.58 0.53 0.52 0.53 0.5484 0.5767 0.6196 0.5870 0.5335 0.5210 0.5773 0.5754 0.54 0.58 0.52 0.55 0.54 rs1056893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5495 0.5748 0.6215 0.5999 0.5899 0.5251 0.5115 0.5469 0.5756 0.5352 0.5678 0.5959 0.5861 0.5798 0.5235 0.5090 0.5479 het 1049.52 82 5 96245439 . C T 1049.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.707;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5741;MQ=58.55;MQ0=0;MQRankSum=-0.915;QD=12.80;ReadPosRankSum=-0.924;VQSLOD=5.6422;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,45:82:99:1080,0,1091 5 96249115 96249115 C T exonic ERAP2 synonymous SNV ERAP2:NM_001329229:exon16:c.C2476T:p.L826L,ERAP2:NM_001130140:exon17:c.C2611T:p.L871L,ERAP2:NM_022350:exon17:c.C2611T:p.L871L 0.55 0.6 0.58 0.53 0.52 0.53 0.5488 0.5764 0.6199 0.5860 0.5335 0.5218 0.5774 0.5759 0.54 0.58 0.52 0.55 0.5 rs2255546 COSM5445221 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5491 0.5743 0.6209 0.5996 0.5887 0.5253 0.5112 0.5465 0.5754 0.5353 0.5679 0.5979 0.5861 0.5831 0.5235 0.5086 0.5480 het 858.13 81 5 96249115 . C T 858.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.198;DP=81;Dels=0.00;FS=4.256;HRun=1;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=1.216;QD=10.59;ReadPosRankSum=0.186;VQSLOD=6.0279;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,35:81:99:888,0,1427 5 96498783 96498783 G A exonic RIOK2 synonymous SNV RIOK2:NM_018343:exon10:c.C1641T:p.A547A 0.55 0.51 0.57 0.52 0.58 0.61 0.5867 0.5214 0.5504 0.5303 0.6572 0.5935 0.6031 0.6258 0.57 0.52 0.6 0.53 0.57 rs8654 COSM3765217 1(thyroid);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5894 0.5141 0.5485 0.6217 0.5364 0.6504 0.5960 0.5970 0.6222 0.5892 0.5238 0.5600 0.6067 0.5217 0.6500 0.6216 0.5881 het 540.32 44 5 96498783 . G A 540.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.480;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=58.37;MQ0=0;MQRankSum=-0.658;QD=12.28;ReadPosRankSum=-0.893;VQSLOD=6.2149;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,21:44:99:570,0,539 5 96503523 96503523 C T exonic RIOK2 nonsynonymous SNV RIOK2:NM_001159749:exon8:c.G1045A:p.G349R,RIOK2:NM_018343:exon8:c.G1045A:p.G349R 0.56 0.52 0.57 0.52 0.58 0.61 0.5864 0.5260 0.5504 0.5290 0.6569 0.5928 0.5936 0.6248 0.57 0.53 0.6 0.53 0.62 rs160632 COSM4160069;COSM4160068 1(thyroid) . . . . . . . . . . . 0.568 0.062 T 0.0 0.026 B 0.0 0.013 B 0.165 0.175 N 1 0.090 P -1.785 0.003 N 2.53 0.140 T 0.5 0.030 N 0.03 0.011 -1.003 0.290 T 0.000 0.000 T . . . 0.789 0.169 9.397 0.712 0.093 0.034 0.083 N c -1.537 -1.433 1.000 0.454 0.707 0.730 0 -0.033 0.132 -0.111 0.107 0.119 0.209 0.000 0.063 0.017 0.128 1.488 0.023 . ENSG00000058729.6|ENSG00000058729.6|ENSG00000058729.6|ENSG00000058729.6|ENSG00000058729.6 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial 0.5903 0.5188 0.5495 0.6216 0.5372 0.6520 0.5964 0.5966 0.6222 0.5902 0.5275 0.5609 0.6026 0.5242 0.6488 0.6216 0.5888 het 3006.78 250 5 96503523 . C T 3006.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.969;DP=250;DS;Dels=0.00;FS=1.563;HRun=0;HaplotypeScore=5.0877;MQ=59.61;MQ0=0;MQRankSum=1.382;QD=12.03;ReadPosRankSum=-0.293;VQSLOD=5.3228;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,112:250:99:3037,0,3446 5 96512865 96512865 T A exonic RIOK2 synonymous SNV RIOK2:NM_001159749:exon4:c.A453T:p.L151L,RIOK2:NM_018343:exon4:c.A453T:p.L151L 0.69 0.78 0.64 0.64 0.67 0.68 0.6814 0.7790 0.5972 0.6562 0.7584 0.6725 0.6998 0.6960 0.71 0.78 0.68 0.69 0.48 rs2548319 COSM4160071;COSM4160070 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6803 0.7765 0.6020 0.6687 0.6590 0.7554 0.6764 0.6747 0.6947 0.7177 0.7782 0.6202 0.6433 0.6380 0.7435 0.6948 0.6759 het 1942.73 136 5 96512865 . T A 1942.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.498;DP=136;Dels=0.00;FS=10.900;HRun=1;HaplotypeScore=1.8561;MQ=59.83;MQ0=0;MQRankSum=-1.314;QD=14.28;ReadPosRankSum=0.502;VQSLOD=3.7881;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,73:136:99:1973,0,1630 5 96512871 96512871 T A exonic RIOK2 synonymous SNV RIOK2:NM_001159749:exon4:c.A447T:p.S149S,RIOK2:NM_018343:exon4:c.A447T:p.S149S 0.69 0.78 0.64 0.64 0.67 0.68 0.6814 0.7790 0.5972 0.6561 0.7584 0.6725 0.6998 0.6960 0.71 0.78 0.68 0.69 0.51 rs2544772 COSM4160073;COSM4160072 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6804 0.7765 0.6022 0.6689 0.6589 0.7555 0.6764 0.6749 0.6951 0.7176 0.7777 0.6202 0.6409 0.6372 0.7435 0.6949 0.6770 het 2147.57 142 5 96512871 . T A 2147.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.848;DP=142;Dels=0.00;FS=12.291;HRun=1;HaplotypeScore=4.6636;MQ=59.84;MQ0=0;MQRankSum=1.310;QD=15.12;ReadPosRankSum=-0.023;VQSLOD=3.3534;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,78:142:99:2178,0,1741 5 96513471 96513471 G C exonic RIOK2 nonsynonymous SNV RIOK2:NM_001159749:exon3:c.C287G:p.S96C,RIOK2:NM_018343:exon3:c.C287G:p.S96C 0.34 0.075 0.43 0.48 0.41 0.43 0.3972 0.1243 0.4455 0.4870 0.5132 0.4036 0.3733 0.4175 0.31 0.13 0.4 0.26 0.4 rs2544773 COSM3736395;COSM3736396 1(skin) . . . . . . . . . . . 0.002 0.784 D 1.0 0.899 D 0.984 0.745 D 0.000 0.843 D 0.000 0.588 P 3.825 0.957 H 3.49 0.057 T -4.69 0.797 D 0.257 0.501 -0.977 0.358 T 0.000 0.000 T . . . 6.209 0.857 28.7 0.993 0.588 0.995 0.972 D c 1.028 0.975 1.000 0.747 0.719 0.830 0 5.7 0.886 9.354 0.965 1.048 0.713 1.000 0.715 0.998 0.697 19.433 0.948 RIO kinase ENSG00000058729.6 Cells_Transformed_fibroblasts 0.4070 0.1197 0.4398 0.3497 0.4951 0.5044 0.4080 0.3973 0.4109 0.3571 0.1262 0.4173 0.3311 0.4685 0.5043 0.4383 0.4213 het 1475.05 118 5 96513471 . G C 1475.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.172;DP=118;Dels=0.00;FS=8.460;HRun=0;HaplotypeScore=0.8667;MQ=58.63;MQ0=0;MQRankSum=-1.050;QD=12.50;ReadPosRankSum=-0.258;VQSLOD=3.9133;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,59:118:99:1505,0,1556 5 101575091 101575091 C T exonic SLCO4C1 synonymous SNV SLCO4C1:NM_180991:exon12:c.G1878A:p.G626G 0.33 0.34 0.27 0.26 0.46 0.29 0.3975 0.3597 0.2302 0.2342 0.4629 0.4674 0.3949 0.3084 0.42 0.36 0.46 0.37 0.32 rs62370437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3926 0.3570 0.2419 0.4310 0.2288 0.4598 0.4638 0.4018 0.2931 0.4152 0.3601 0.2584 0.4834 0.2137 0.4597 0.4652 0.4264 het 504.24 44 5 101575091 . C T 504.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.415;DP=44;Dels=0.00;FS=1.424;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-1.138;QD=11.46;ReadPosRankSum=-1.091;VQSLOD=5.7242;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:534,0,641 5 101631761 101631761 T C exonic SLCO4C1 nonsynonymous SNV SLCO4C1:NM_180991:exon1:c.A206G:p.N69S 0.027 0.003 0.042 0.024 0.059 0.021 0.0386 0.0086 0.0352 0.0340 0.0194 0.0505 0.0407 0.0216 0.038 0.0098 0.052 0.011 0.033 rs76381196 . . . . . . . . . . . . . 0.663 0.046 T 0.0 0.026 B 0.0 0.013 B 0.233 0.035 N 1 0.090 N 0.345 0.112 N 1.2 0.374 T 0.29 0.042 N 0.001 0.000 -1.077 0.079 T 0.010 0.037 T . . . -1.954 0.009 0.001 0.339 0.020 0.061 0.119 N c -1.351 -1.393 1.000 0.747 0.652 0.477 0 0.017 0.134 0.316 0.191 -0.794 0.032 0.000 0.063 0.000 0.016 3.828 0.083 . . . 0.0393 0.0079 0.0375 0.0651 0.0332 0.0196 0.0511 0.0468 0.0219 0.0294 0.0091 0.0406 0.0430 0.0328 0.0189 0.0418 0.0397 het 2244.21 132 5 101631761 . T C 2244.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.482;DP=132;Dels=0.00;FS=1.454;HRun=0;HaplotypeScore=3.8697;MQ=59.37;MQ0=0;MQRankSum=0.650;QD=17.00;ReadPosRankSum=0.622;VQSLOD=5.5420;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,81:132:99:2274,0,1293 5 101631790 101631790 T G exonic SLCO4C1 synonymous SNV SLCO4C1:NM_180991:exon1:c.A177C:p.P59P 0.14 0.012 0.14 0.16 0.28 0.16 0.2181 0.0386 0.1362 0.1300 0.4188 0.2636 0.2709 0.1672 0.18 0.047 0.24 0.14 0.25 rs10479190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2201 0.0374 0.1348 0.2992 0.1301 0.4195 0.2514 0.2357 0.1681 0.2119 0.0424 0.1400 0.3245 0.1295 0.4233 0.2676 0.2780 het 776.51 94 5 101631790 . T G 776.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.161;DP=94;Dels=0.00;FS=1.967;HRun=2;HaplotypeScore=3.8193;MQ=59.51;MQ0=0;MQRankSum=1.295;QD=8.26;ReadPosRankSum=0.362;VQSLOD=5.6277;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,31:94:99:807,0,1793 5 101724448 101724448 G C exonic SLCO6A1 nonsynonymous SNV SLCO6A1:NM_001308014:exon7:c.C1202G:p.T401R,SLCO6A1:NM_001289004:exon11:c.C1775G:p.T592R,SLCO6A1:NM_001289002:exon12:c.C1961G:p.T654R,SLCO6A1:NM_173488:exon12:c.C1961G:p.T654R 0.2 0.17 0.17 0.17 0.3 0.21 0.2575 0.1718 0.1571 0.1629 0.4109 0.2936 0.3119 0.2219 0.23 0.17 0.27 0.26 0.2 rs10055840 . . . . . . . . . . . . . 0.412 0.101 T 0.001 0.182 B 0.003 0.282 B 0.038 0.018 N 1 0.090 P 0.165 0.090 N 1.27 0.361 T 1.15 0.012 N 0.067 0.094 -1.092 0.052 T 0.000 0.000 T . . . -2.504 0.003 0.001 0.270 0.013 0.004 0.022 N c -2.035 -2.169 1.000 0.747 0.487 0.133 0 -10.1 0.003 -3.026 0.007 -1.372 0.012 0.000 0.063 0.000 0.016 2.546 0.044 Major facilitator superfamily domain ENSG00000173930.8 Testis 0.2466 0.1656 0.1452 0.2922 0.1593 0.4106 0.2723 0.2586 0.2106 0.2599 0.1733 0.1667 0.3146 0.1573 0.4158 0.2874 0.2864 het 820.41 68 5 101724448 . G C 820.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.069;DP=68;Dels=0.00;FS=2.058;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=1.742;QD=12.06;ReadPosRankSum=0.610;VQSLOD=6.0258;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,36:68:99:850,0,755 5 102345546 102345546 A C exonic PAM synonymous SNV PAM:NM_138821:exon19:c.A1986C:p.I662I,PAM:NM_000919:exon20:c.A2307C:p.I769I,PAM:NM_001177306:exon20:c.A2307C:p.I769I,PAM:NM_138766:exon20:c.A2307C:p.I769I,PAM:NM_138822:exon20:c.A2307C:p.I769I,PAM:NM_001319943:exon22:c.A2361C:p.I787I 0.23 0.11 0.23 0.43 0.28 0.16 0.2598 0.1416 0.1923 0.4216 0.3192 0.2836 0.2666 0.1751 0.24 0.15 0.29 0.25 0.3 rs2230457 COSM4407105;COSM4407106;COSM4407104 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2642 0.1395 0.2047 0.2300 0.4310 0.3221 0.2911 0.2502 0.1712 0.2630 0.1396 0.2172 0.2682 0.4384 0.3232 0.3039 0.2695 het 519.51 41 5 102345546 . A C 519.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.579;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=58.87;MQ0=0;MQRankSum=0.575;QD=12.67;ReadPosRankSum=0.067;VQSLOD=6.2702;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,25:41:99:550,0,390 5 102433409 102433409 G A exonic GIN1 nonsynonymous SNV GIN1:NM_001317954:exon4:c.C275T:p.T92M,GIN1:NM_017676:exon5:c.C716T:p.T239M 0.24 0.13 0.22 0.45 0.28 0.14 0.2648 0.1475 0.1962 0.4330 0.3251 0.2954 0.2711 0.1466 0.25 0.14 0.3 0.32 0.36 rs34813 COSM149894 1(stomach);1(pancreas);1(liver);3(prostate) . . . . . . . . . . . 0.107 0.295 T 0.431 0.338 B 0.081 0.275 B 0.876 0.072 N 1 0.090 P 1.65 0.424 L 1.55 0.299 T 0.39 0.035 N 0.037 0.019 -0.928 0.445 T 0.000 0.000 T . . . -0.105 0.084 1.696 0.257 0.012 0.051 0.107 N c -0.997 -1.027 0.000 0.046 0.651 0.465 0 1.24 0.203 0.585 0.234 -0.366 0.067 0.053 0.213 0.001 0.043 2.504 0.043 Integrase\x2c catalytic core|Ribonuclease H-like domain ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000175749.11|ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000175749.11|ENSG00000145730.16|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145723.12|ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000145725.15|ENSG00000175749.11|ENSG00000175749.11|ENSG00000145725.15|ENSG00000145730.16 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.2690 0.1450 0.2077 0.2275 0.4406 0.3273 0.3046 0.2571 0.1458 0.2715 0.1459 0.2249 0.26 0.4473 0.3264 0.3158 0.2709 het 1725.28 138 5 102433409 . G A 1725.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.144;DP=138;Dels=0.00;FS=1.399;HRun=0;HaplotypeScore=1.9125;MQ=58.94;MQ0=0;MQRankSum=0.954;QD=12.50;ReadPosRankSum=-0.013;VQSLOD=6.7314;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,72:138:99:1755,0,1646 5 102520400 102520400 A C exonic PPIP5K2 synonymous SNV PPIP5K2:NM_001345871:exon25:c.A2950C:p.R984R,PPIP5K2:NM_001345874:exon25:c.A2950C:p.R984R,PPIP5K2:NM_001345875:exon25:c.A2950C:p.R984R,PPIP5K2:NM_001345877:exon25:c.A2947C:p.R983R,PPIP5K2:NM_001276277:exon26:c.A3124C:p.R1042R,PPIP5K2:NM_001345873:exon26:c.A3121C:p.R1041R,PPIP5K2:NM_001345876:exon26:c.A3124C:p.R1042R,PPIP5K2:NM_001345878:exon26:c.A3121C:p.R1041R,PPIP5K2:NM_015216:exon26:c.A3124C:p.R1042R 0.31 0.39 0.24 0.45 0.28 0.13 0.2847 0.3715 0.2060 0.4308 0.3294 0.2967 0.2844 0.1420 0.33 0.37 0.31 0.45 0.36 rs26821 COSM4407414;COSM4407413 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2845 0.3722 0.2165 0.2306 0.4384 0.3318 0.3051 0.2676 0.1410 0.3350 0.3626 0.2339 0.2583 0.4458 0.3304 0.3186 0.2864 het 858.75 71 5 102520400 . A C 858.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.030;DP=71;Dels=0.00;FS=4.821;HRun=0;HaplotypeScore=0.9995;MQ=58.61;MQ0=0;MQRankSum=0.040;QD=12.10;ReadPosRankSum=-0.904;VQSLOD=5.5688;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,34:71:99:889,0,922 5 102891695 102891695 A G exonic NUDT12 synonymous SNV NUDT12:NM_001300741:exon4:c.T847C:p.L283L,NUDT12:NM_031438:exon4:c.T901C:p.L301L 0.59 0.56 0.53 0.5 0.69 0.69 0.6546 0.5470 0.4879 0.5501 0.7068 0.7026 0.6689 0.6777 0.64 0.53 0.69 0.56 0.7 rs10045774 COSM4159342 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6495 0.5423 0.4967 0.7625 0.5493 0.7024 0.6961 0.6599 0.6781 0.6494 0.5405 0.5541 0.7781 0.5344 0.7090 0.7125 0.6728 het 713.30 57 5 102891695 . A G 713.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.376;DP=57;Dels=0.00;FS=1.007;HRun=0;HaplotypeScore=2.9923;MQ=58.27;MQ0=0;MQRankSum=1.285;QD=12.51;ReadPosRankSum=-1.030;VQSLOD=5.3277;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,28:57:99:743,0,728 5 102894977 102894977 T C exonic NUDT12 synonymous SNV NUDT12:NM_001300741:exon3:c.A345G:p.R115R,NUDT12:NM_031438:exon3:c.A399G:p.R133R 0.1 0.14 0.15 0.013 0.16 0.04 0.1330 0.1264 0.1049 0.0074 0.1324 0.1669 0.1597 0.0751 0.15 0.13 0.17 0.087 0.2 rs7734923 COSM3760855 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1294 0.1243 0.1173 0.2337 0.0080 0.1250 0.1606 0.1476 0.0649 0.1324 0.1248 0.1331 0.2550 0.0068 0.1202 0.1504 0.1391 het 646.94 51 5 102894977 . T C 646.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.046;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=-1.554;QD=12.69;ReadPosRankSum=-0.104;VQSLOD=5.7799;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,25:51:99:677,0,744 5 102895124 102895124 G A exonic NUDT12 synonymous SNV NUDT12:NM_001300741:exon3:c.C198T:p.D66D,NUDT12:NM_031438:exon3:c.C252T:p.D84D 0.1 0.14 0.15 0.013 0.16 0.041 0.1327 0.1274 0.1049 0.0074 0.1321 0.1675 0.1582 0.0721 0.15 0.12 0.17 0.087 0.2 rs7723689 COSM3760856 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1313 0.1247 0.1186 0.2409 0.0081 0.1259 0.1625 0.1512 0.0671 0.1325 0.1249 0.1352 0.2550 0.0068 0.1198 0.1503 0.1408 het 332.13 72 5 102895124 . G A 332.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.518;DP=72;Dels=0.00;FS=3.915;HRun=0;HaplotypeScore=0.0000;MQ=58.24;MQ0=0;MQRankSum=0.423;QD=4.61;ReadPosRankSum=-0.579;VQSLOD=3.1115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,18:72:99:362,0,1456 5 108281909 108281909 C G exonic FER nonsynonymous SNV FER:NM_001308031:exon2:c.C208G:p.L70V,FER:NM_001308028:exon9:c.C790G:p.L264V,FER:NM_005246:exon11:c.C1315G:p.L439V 0.058 0.0045 0.026 0.086 0.054 0.13 0.0592 0.0099 0.0176 0.0657 0.1127 0.0564 0.0695 0.1047 0.04 0.0095 0.056 0.043 0.057 rs2229086 . . . . . . . . . . . . . 0.196 0.207 T 0.321 0.313 B 0.03 0.205 B 0.007 0.318 N 0.038 0.487 P 2.395 0.694 M -1.03 0.764 T -0.79 0.219 N 0.066 0.052 -0.983 0.343 T 0.019 0.081 T . . . 0.132 0.106 3.947 0.544 0.050 0.555 0.296 D c -0.699 -0.718 0.002 0.086 0.638 0.428 0 0.156 0.141 -0.081 0.112 0.892 0.403 0.790 0.294 0.824 0.344 4.882 0.130 F-BAR domain|FCH domain . . 0.0590 0.0090 0.0156 0.0543 0.0625 0.1114 0.0557 0.0569 0.1062 0.0540 0.0097 0.0155 0.0563 0.0433 0.1076 0.0687 0.0837 het 1556.07 130 5 108281909 . C G 1556.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.186;DP=130;Dels=0.00;FS=4.249;HRun=0;HaplotypeScore=0.7887;MQ=58.43;MQ0=0;MQRankSum=-1.595;QD=11.97;ReadPosRankSum=2.205;VQSLOD=3.6846;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,64:130:99:1586,0,1691 5 108672946 108672946 C T exonic PJA2 nonsynonymous SNV PJA2:NM_014819:exon10:c.G2113A:p.A705T 0.3 0.12 0.28 0.56 0.25 0.35 0.2756 0.1556 0.2609 0.6094 0.2590 0.2430 0.2566 0.3259 0.21 0.16 0.23 0.23 0.25 rs246105 COSM4407229 1(liver) . . . . . . . . . . . 0.046 0.405 D 0.0 0.026 B 0.0 0.013 B 0.387 0.133 N 1.000 0.195 P 1.04 0.263 L 2.8 0.111 T -0.42 0.142 N 0.016 0.003 -0.998 0.306 T 0.000 0.000 T . . . 3.155 0.439 22.6 0.975 0.340 0.036 0.088 N c -0.910 -0.867 0.981 0.302 0.732 0.924 0 0.451 0.158 -0.010 0.126 0.071 0.179 0.152 0.235 0.001 0.043 3.747 0.080 . ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood 0.2758 0.1547 0.2680 0.2873 0.6038 0.2590 0.2361 0.2516 0.3178 0.2377 0.1568 0.2794 0.3212 0.5850 0.2646 0.2357 0.2597 het 1103.22 147 5 108672946 . C T 1103.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.231;DP=147;Dels=0.00;FS=2.245;HRun=0;HaplotypeScore=3.6560;MQ=58.86;MQ0=0;MQRankSum=0.187;QD=7.50;ReadPosRankSum=-1.806;VQSLOD=4.9250;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,54:147:99:1133,0,2283 5 108713970 108713970 C T exonic PJA2 synonymous SNV PJA2:NM_014819:exon4:c.G1218A:p.E406E 0.68 0.87 0.64 0.44 0.74 0.65 0.6984 0.8209 0.6070 0.3815 0.6699 0.7462 0.7104 0.6683 0.77 0.81 0.76 0.74 0.72 rs10042721 COSM4003251 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6921 0.8210 0.6064 0.7119 0.3844 0.6708 0.7535 0.7181 0.6759 0.7373 0.8212 0.6289 0.6733 0.4024 0.6701 0.7495 0.7065 het 1513.30 103 5 108713970 . C T 1513.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.114;DP=103;Dels=0.00;FS=4.978;HRun=1;HaplotypeScore=4.0802;MQ=58.73;MQ0=0;MQRankSum=0.127;QD=14.69;ReadPosRankSum=-1.152;VQSLOD=4.9800;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,54:103:99:1543,0,1473 5 108713982 108713982 T C exonic PJA2 synonymous SNV PJA2:NM_014819:exon4:c.A1206G:p.A402A 0.33 0.064 0.47 0.057 0.59 0.58 0.4998 0.1438 0.4860 0.0444 0.5796 0.5822 0.5607 0.6043 0.45 0.16 0.59 0.23 0.49 rs12523186 COSM4159349 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5071 0.1371 0.4801 0.5218 0.0419 0.5816 0.5906 0.5542 0.6114 0.4315 0.1436 0.4819 0.5166 0.0408 0.5759 0.5944 0.5673 het 1674.37 110 5 108713982 . T C 1674.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.350;DP=110;Dels=0.00;FS=3.617;HRun=2;HaplotypeScore=2.6556;MQ=58.60;MQ0=0;MQRankSum=0.913;QD=15.22;ReadPosRankSum=-0.320;VQSLOD=5.3972;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,58:110:99:1704,0,1490 5 108714298 108714298 T C exonic PJA2 nonsynonymous SNV PJA2:NM_014819:exon4:c.A890G:p.Q297R 0.32 0.064 0.47 0.057 0.59 0.56 0.4965 0.1436 0.4844 0.0443 0.5797 0.5809 0.5518 0.5872 0.44 0.16 0.59 0.23 0.49 rs1045706 COSM4003252 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.648 0.049 T 0.001 0.067 B 0.001 0.040 B 0.035 0.247 N 1.000 0.090 P 1.355 0.339 L 3.43 0.055 T -0.32 0.123 N 0.05 0.031 -0.921 0.454 T 0.000 0.000 T . . . -1.419 0.019 0.003 0.281 0.014 0.222 0.214 N c -0.836 -0.752 0.779 0.238 0.707 0.730 0 2.88 0.325 0.426 0.209 0.143 0.228 0.138 0.233 0.043 0.159 1.742 0.028 . ENSG00000198961.5|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000249476.1|ENSG00000198961.5|ENSG00000249476.1|ENSG00000198961.5|ENSG00000249476.1|ENSG00000198961.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.5042 0.1369 0.4788 0.5217 0.0418 0.5815 0.5894 0.5511 0.5947 0.4307 0.1428 0.4809 0.5166 0.0408 0.5758 0.5932 0.5673 het 1934.34 154 5 108714298 . T C 1934.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.497;DP=154;Dels=0.00;FS=3.142;HRun=0;HaplotypeScore=1.6498;MQ=59.70;MQ0=0;MQRankSum=-0.257;QD=12.56;ReadPosRankSum=-0.502;VQSLOD=6.6234;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,79:154:99:1964,0,2044 5 109117171 109117171 A G exonic MAN2A1 synonymous SNV MAN2A1:NM_002372:exon9:c.A1449G:p.Q483Q 0.28 0.058 0.24 0.62 0.15 0.38 0.2369 0.0738 0.2503 0.6521 0.225 0.1761 0.2778 0.3620 0.14 0.072 0.17 0.24 0.12 rs13189822 COSM4409165 2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2368 0.0731 0.2361 0.1710 0.6543 0.2218 0.1729 0.1995 0.3572 0.1893 0.0792 0.2213 0.1457 0.6434 0.2360 0.1910 0.2177 het 776.86 56 5 109117171 . A G 776.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.341;DP=56;Dels=0.00;FS=2.258;HRun=0;HaplotypeScore=0.0000;MQ=57.12;MQ0=0;MQRankSum=0.288;QD=13.87;ReadPosRankSum=-0.895;VQSLOD=4.4923;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,30:56:99:807,0,636 5 109181682 109181682 A T exonic MAN2A1 synonymous SNV MAN2A1:NM_002372:exon18:c.A2817T:p.S939S 0.75 0.9 0.64 0.88 0.61 0.61 0.6546 0.8710 0.6227 0.9058 0.6338 0.6087 0.6189 0.6044 0.7 0.86 0.62 0.75 0.58 rs3186988 COSM3760861 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6461 0.8757 0.6223 0.5466 0.9061 0.6182 0.6093 0.6151 0.6029 0.7027 0.8661 0.6265 0.5467 0.9225 0.6275 0.6144 0.6196 hom 6101.19 196 5 109181682 . A T 6101.19 Mask AC=2;AF=1.00;AN=2;DP=196;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.3626;MQ=59.04;MQ0=0;QD=31.13;VQSLOD=8.1085;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,196:196:99:6101,466,0 5 109190936 109190938 CTC - exonic MAN2A1 nonframeshift deletion MAN2A1:NM_002372:exon20:c.3072_3074del:p.S1026del 0.27 0.042 0.25 0.61 0.15 0.36 0.2327 0.0624 0.2446 0.6398 0.2233 0.1792 0.2566 0.3366 0.18 0.11 0.21 . . rs3217225 COSM5829992 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2232 0.0580 0.2220 0.1638 0.6280 0.2167 0.1711 0.1834 0.3193 0.1866 0.0659 0.2267 0.1490 0.6341 0.2347 0.1947 0.2163 het 1357.61 82 5 109190935 . TCTC T 1357.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.711;DP=82;FS=0.000;HRun=0;HaplotypeScore=320.1485;MQ=58.02;MQ0=0;MQRankSum=2.212;QD=16.56;ReadPosRankSum=0.641;set=variant2 GT:AD:DP:GQ:PL 0/1:49,33:82:99:1397,0,2857 5 110819753 110819753 G C exonic CAMK4 synonymous SNV CAMK4:NM_001323376:exon9:c.G420C:p.S140S,CAMK4:NM_001323377:exon10:c.G420C:p.S140S,CAMK4:NM_001744:exon11:c.G1011C:p.S337S,CAMK4:NM_001323374:exon12:c.G1011C:p.S337S,CAMK4:NM_001323375:exon12:c.G1011C:p.S337S 0.73 0.97 0.72 0.53 0.78 0.58 0.7600 0.9436 0.6403 0.5534 0.8338 0.7927 0.7616 0.6651 0.84 0.94 0.79 0.75 0.73 rs25925 COSM3760867 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7502 0.9489 0.6499 0.7444 0.5585 0.8238 0.7979 0.7552 0.6416 0.8333 0.9529 0.6874 0.7318 0.5514 0.8339 0.8065 0.7949 het 1548.75 115 5 110819753 . G C 1548.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.854;DP=115;Dels=0.00;FS=12.562;HRun=1;HaplotypeScore=3.5944;MQ=59.11;MQ0=0;MQRankSum=0.912;QD=13.47;ReadPosRankSum=0.768;VQSLOD=4.0830;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,54:115:99:1579,0,1513 5 112162854 112162854 T C exonic APC synonymous SNV APC:NM_001127511:exon10:c.T1404C:p.Y468Y,APC:NM_000038:exon12:c.T1458C:p.Y486Y,APC:NM_001127510:exon13:c.T1458C:p.Y486Y 0.51 0.16 0.67 0.66 0.58 0.64 0.5780 0.2053 0.7159 0.6791 0.5059 0.5906 0.5916 0.6412 0.46 0.21 0.59 0.43 0.58 rs2229992 COSM1432175 1(thyroid);2(large_intestine) Benign|other|Benign|Benign not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders RCV000035064.9|RCV000074147.1|RCV000131423.2|RCV000275522.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen CN169374|CN029768|C0027672:699346009|CN239210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5854 0.1944 0.6995 0.5644 0.6740 0.5068 0.5930 0.6071 0.6384 0.4692 0.2085 0.6579 0.5894 0.6538 0.5003 0.5762 0.5430 het 1430.68 125 5 112162854 . T C 1430.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.718;DP=125;Dels=0.00;FS=8.975;HRun=0;HaplotypeScore=0.9973;MQ=58.88;MQ0=0;MQRankSum=1.495;QD=11.45;ReadPosRankSum=1.122;VQSLOD=4.6506;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,55:125:99:1461,0,1770 5 112164561 112164561 G A exonic APC synonymous SNV APC:NM_001127511:exon12:c.G1581A:p.A527A,APC:NM_000038:exon14:c.G1635A:p.A545A,APC:NM_001127510:exon15:c.G1635A:p.A545A 0.67 0.52 0.72 0.82 0.6 0.75 0.6481 0.5365 0.7478 0.8230 0.5574 0.6170 0.6432 0.7196 0.59 0.53 0.62 0.7 0.54 rs351771 COSM3760868 1(large_intestine) Benign|other|Benign|Benign|Benign not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders|Familial_adenomatous_polyposis_1 RCV000035066.9|RCV000074153.1|RCV000162371.1|RCV000375983.1|RCV000411329.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen|MedGen:OMIM CN169374|CN029768|C0027672:699346009|CN239210|C2713442:175100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6493 0.5317 0.7344 0.5806 0.8218 0.5595 0.6193 0.6551 0.7132 0.5927 0.5342 0.6926 0.5894 0.8064 0.5564 0.6048 0.6212 het 1005.45 90 5 112164561 . G A 1005.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.420;DP=90;Dels=0.00;FS=3.636;HRun=1;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;MQRankSum=0.804;QD=11.17;ReadPosRankSum=-0.107;VQSLOD=6.4797;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,37:90:99:1035,0,1234 5 112175770 112175770 G A exonic APC synonymous SNV APC:NM_001127511:exon14:c.G4425A:p.T1475T,APC:NM_000038:exon16:c.G4479A:p.T1493T,APC:NM_001127510:exon17:c.G4479A:p.T1493T 0.67 0.52 0.72 0.82 0.6 0.74 0.6486 0.5370 0.7486 0.8227 0.5590 0.6172 0.6432 0.7186 0.59 0.53 0.62 0.7 0.67 rs41115 COSM3760869 1(breast);16(soft_tissue);2(large_intestine) Benign|other|Benign|Benign not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders RCV000035071.9|RCV000074234.1|RCV000162372.1|RCV000383485.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen CN169374|CN029768|C0027672:699346009|CN239210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6496 0.5330 0.7351 0.5816 0.8217 0.5600 0.6193 0.6567 0.7125 0.5933 0.5356 0.6918 0.5927 0.8082 0.5563 0.6050 0.6209 het 900.83 93 5 112175770 . G A 900.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.723;DP=93;Dels=0.00;FS=2.790;HRun=0;HaplotypeScore=7.0212;MQ=58.59;MQ0=0;MQRankSum=-1.465;QD=9.69;ReadPosRankSum=-0.442;VQSLOD=3.8285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,38:93:99:931,0,1589 5 112176325 112176325 G A exonic APC synonymous SNV APC:NM_001127511:exon14:c.G4980A:p.G1660G,APC:NM_000038:exon16:c.G5034A:p.G1678G,APC:NM_001127510:exon17:c.G5034A:p.G1678G 0.67 0.52 0.72 0.82 0.6 0.74 0.6514 0.5418 0.7501 0.8236 0.5604 0.6214 0.6475 0.7185 0.59 0.53 0.62 0.7 0.66 rs42427 COSM3760870 1(large_intestine) Benign|other|Benign|Benign not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders RCV000035074.9|RCV000074235.1|RCV000162373.1|RCV000390083.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen CN169374|CN029768|C0027672:699346009|CN239210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6524 0.5352 0.7377 0.5822 0.8219 0.5610 0.6240 0.6594 0.7124 0.5956 0.5373 0.6950 0.5927 0.8068 0.5573 0.6082 0.6255 het 345.75 43 5 112176325 . G A 345.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.489;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.46;MQ0=0;MQRankSum=0.754;QD=8.04;ReadPosRankSum=-1.335;VQSLOD=6.1475;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,13:43:99:376,0,773 5 112176559 112176559 T G exonic APC synonymous SNV APC:NM_001127511:exon14:c.T5214G:p.S1738S,APC:NM_000038:exon16:c.T5268G:p.S1756S,APC:NM_001127510:exon17:c.T5268G:p.S1756S 0.67 0.52 0.72 0.82 0.6 0.75 0.6508 0.5388 0.7491 0.8223 0.5603 0.6207 0.6430 0.7194 0.59 0.53 0.62 0.7 0.67 rs866006 . . Likely benign|Benign|Likely benign\x2cBenign|other|Benign|Benign Hereditary_cancer-predisposing_syndrome|not_specified|Familial_adenomatous_polyposis_1\x2cnot_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders RCV000166360.1|RCV000424383.1|RCV000468969.1\x2cRCV000035076.9|RCV000074236.1|RCV000162374.1|RCV000359973.1 MedGen:SNOMED_CT|MedGen|MedGen:OMIM\x2cMedGen|MedGen|MedGen:SNOMED_CT|MedGen C0027672:699346009|CN169374|C2713442:175100\x2cCN169374|CN029768|C0027672:699346009|CN239210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6513 0.5340 0.7355 0.5915 0.8213 0.5610 0.6215 0.6570 0.7132 0.5942 0.5361 0.6933 0.5993 0.8055 0.5574 0.6065 0.6214 het 457.29 38 5 112176559 . T G 457.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;MQRankSum=-0.365;QD=12.03;ReadPosRankSum=-0.453;VQSLOD=6.7186;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,18:38:99:487,0,538 5 112176756 112176756 T A exonic APC nonsynonymous SNV APC:NM_001127511:exon14:c.T5411A:p.V1804D,APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D 0.87 0.99 0.82 0.9 0.77 0.8 0.7981 0.9566 0.8304 0.9018 0.6886 0.7685 0.7610 0.7869 0.83 0.95 0.77 0.92 0.75 rs459552 COSM3760871 1(large_intestine) Benign|Benign|Benign|other|Benign|Benign\x2cUncertain significance|Uncertain significance Familial_adenomatous_polyposis_1|not_provided|not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders\x2cHereditary_cancer-predisposing_syndrome|Familial_adenomatous_polyposis_1 RCV000020089.2|RCV000034393.1|RCV000035078.10|RCV000074239.1|RCV000132160.2|RCV000358689.1\x2cRCV000216852.1|RCV000471267.1 MedGen:OMIM|MedGen|MedGen|MedGen|MedGen:SNOMED_CT|MedGen\x2cMedGen:SNOMED_CT|MedGen:OMIM C2713442:175100|CN221809|CN169374|CN029768|C0027672:699346009|CN239210\x2cC0027672:699346009|C2713442:175100 . . . . . . 0.672 0.045 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 0.981 0.250 P -0.895 0.014 N -2.3 0.877 D 0.59 0.026 N 0.147 0.174 -0.947 0.415 T 0.000 0.000 T . . . 1.486 0.241 13.24 0.809 0.129 0.050 0.107 N c -0.653 -0.403 0.017 0.130 0.732 0.924 0 3.59 0.401 2.360 0.436 -0.197 0.102 0.997 0.399 0.991 0.552 9.399 0.374 . . . 0.7938 0.9595 0.8279 0.7662 0.9030 0.6885 0.7708 0.7891 0.7816 0.8113 0.9616 0.8062 0.7767 0.8937 0.6910 0.7465 0.7719 het 540.21 34 5 112176756 . T A 540.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.820;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;MQRankSum=1.387;QD=15.89;ReadPosRankSum=0.090;VQSLOD=6.8932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,22:34:99:570,0,310 5 112177171 112177171 G A exonic APC synonymous SNV APC:NM_001127511:exon14:c.G5826A:p.P1942P,APC:NM_000038:exon16:c.G5880A:p.P1960P,APC:NM_001127510:exon17:c.G5880A:p.P1960P 0.67 0.52 0.72 0.82 0.6 0.74 0.6488 0.5414 0.7483 0.8224 0.5593 0.6175 0.6446 0.7179 0.59 0.53 0.62 0.7 0.66 rs465899 COSM3760872 1(breast);2(large_intestine) Benign|other|Benign|Benign not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders RCV000035080.9|RCV000074242.1|RCV000162375.1|RCV000270059.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen CN169374|CN029768|C0027672:699346009|CN239210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6497 0.5369 0.7350 0.5819 0.8218 0.5602 0.6193 0.6567 0.7119 0.5952 0.5409 0.6938 0.5927 0.8097 0.5564 0.6055 0.6224 het 594.65 43 5 112177171 . G A 594.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.733;DP=43;Dels=0.00;FS=4.591;HRun=0;HaplotypeScore=0.9789;MQ=58.48;MQ0=0;MQRankSum=-1.227;QD=13.83;ReadPosRankSum=0.765;VQSLOD=4.9160;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,21:43:99:625,0,594 5 112312676 112312676 T C exonic DCP2 nonsynonymous SNV DCP2:NM_001242377:exon1:c.T46C:p.F16L,DCP2:NM_152624:exon1:c.T46C:p.F16L 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.97 rs33555 COSM4591842 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 5518.65 173 5 112312676 . T C 5518.65 Mask AC=2;AF=1.00;AN=2;DP=173;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1099;MQ=58.91;MQ0=0;QD=31.90;VQSLOD=8.1739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5518,436,0 5 112328377 112328377 A G exonic DCP2 synonymous SNV DCP2:NM_001242377:exon4:c.A342G:p.L114L,DCP2:NM_152624:exon4:c.A342G:p.L114L 0.77 0.8 0.78 0.76 0.75 0.75 0.7585 0.8189 0.7640 0.7893 0.7037 0.7550 0.7395 0.7372 0.78 0.82 0.76 0.77 0.65 rs3733969 COSM4408461 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7490 0.8169 0.7465 0.7866 0.7857 0.6991 0.7475 0.7467 0.7310 0.7545 0.8263 0.7506 0.7550 0.7611 0.7069 0.7256 0.7204 hom 2400.73 78 5 112328377 . A G 2400.73 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=30.78;VQSLOD=9.2848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2434,184,0 5 112349070 112349070 T C exonic DCP2 synonymous SNV DCP2:NM_001242377:exon10:c.T1047C:p.A349A,DCP2:NM_152624:exon11:c.T1152C:p.A384A 0.78 0.84 0.78 0.78 0.74 0.75 0.7559 0.8525 0.7604 0.7975 0.6775 0.7483 0.7302 0.7340 0.79 0.85 0.76 0.79 0.73 rs9326869 COSM4159365 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7519 0.8563 0.7557 0.7524 0.7973 0.6772 0.7494 0.7450 0.7346 0.7619 0.8618 0.7536 0.7053 0.7673 0.6816 0.7263 0.7184 hom 6004.70 193 5 112349070 . T C 6004.70 Mask AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8109;MQ=58.95;MQ0=0;QD=31.11;VQSLOD=8.2435;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:6004,475,0 5 112379289 112379289 G A exonic MCC synonymous SNV MCC:NM_002387:exon15:c.C2124T:p.A708A,MCC:NM_001085377:exon17:c.C2694T:p.A898A . . . . . . 0.5302 0.4281 0.6387 0.6357 0.4735 0.5096 0.5232 0.5691 0.49 0.44 0.51 0.5 0.52 rs2227948 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5341 0.4264 0.6303 0.5693 0.6389 0.4731 0.5041 0.5349 0.5658 0.4790 0.4308 0.6196 0.5563 0.6205 0.4779 0.4817 0.4949 hom 2253.65 72 5 112379289 . G A 2253.65 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9789;MQ=58.15;MQ0=0;QD=31.30;VQSLOD=7.8625;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:72:99:2287,175,0 5 112384802 112384802 G A exonic MCC synonymous SNV MCC:NM_002387:exon14:c.C2073T:p.D691D,MCC:NM_001085377:exon16:c.C2643T:p.D881D 0.86 0.59 0.95 0.94 0.96 0.98 0.9420 0.6211 0.9720 0.9481 0.9406 0.9753 0.9636 0.9848 0.86 0.63 0.97 0.79 0.97 rs6594664 COSM4159366;COSM4159367 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9480 0.6145 0.9678 0.9839 0.9464 0.9425 0.9751 0.9633 0.9852 0.8631 0.6092 0.9523 0.9868 0.9462 0.9419 0.9703 0.9418 hom 7247.20 234 5 112384802 . G A 7247.20 Mask AC=2;AF=1.00;AN=2;DP=234;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6159;MQ=60.56;MQ0=0;QD=30.97;VQSLOD=7.7362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7246,602,0 5 112399791 112399791 G A exonic MCC synonymous SNV MCC:NM_002387:exon12:c.C1533T:p.N511N,MCC:NM_001085377:exon14:c.C2103T:p.N701N 0.51 0.14 0.67 0.63 0.66 0.63 0.6034 0.2045 0.6806 0.6684 0.5939 0.6402 0.6145 0.6192 0.5 0.21 0.64 0.4 0.57 rs2227947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6093 0.1923 0.6755 0.6307 0.6662 0.5983 0.6357 0.6280 0.6148 0.4991 0.2034 0.6504 0.6060 0.6553 0.5970 0.6152 0.5878 hom 4382.09 134 5 112399791 . G A 4382.09 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=59.50;MQ0=0;QD=32.70;VQSLOD=8.8618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4382,352,0 5 112439941 112439941 T C exonic MCC nonsynonymous SNV MCC:NM_002387:exon5:c.A569G:p.K190R,MCC:NM_001085377:exon7:c.A1139G:p.K380R 0.99 0.98 1. 1. 1. 1. 0.9981 0.9788 0.9996 1 1 1.0000 0.9978 1 0.99 0.98 1. 0.99 0.98 rs6594681 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P 0.205 0.094 N -1.24 0.790 T -0.17 0.144 N 0.2 0.398 -0.963 0.386 T 0.000 0.000 T . . . 1.926 0.292 15.75 0.217 0.008 0.140 0.180 N c -0.519 -0.273 1.000 0.517 0.563 0.310 0 5.26 0.734 4.622 0.607 0.016 0.142 1.000 0.715 0.996 0.625 14.089 0.644 . . . 0.9986 0.9792 0.9991 1 1 1 1.0000 0.9991 1 0.9934 0.9766 0.9988 1 1 1 1 1 hom 8526.07 248 5 112439941 . T C 8526.07 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8920;MQ=59.48;MQ0=0;QD=34.38;VQSLOD=9.4366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,247:248:99:8525,668,0 5 112479004 112479004 T C exonic MCC synonymous SNV MCC:NM_002387:exon3:c.A225G:p.T75T,MCC:NM_001085377:exon5:c.A795G:p.T265T 0.99 0.98 1. 1. 1. 1. 0.9984 0.9828 0.9990 0.9997 1 1.0000 0.9989 1 0.99 0.99 1. 1. 1. rs2227949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9820 0.9987 1 0.9996 1 1.0000 0.9991 0.9999 0.9953 0.9837 0.9988 1 0.9994 1 1 0.9980 hom 3170.30 99 5 112479004 . T C 3170.30 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.77;MQ0=0;QD=32.02;VQSLOD=8.9854;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3203,262,0 5 112770027 112770027 T G exonic TSSK1B synonymous SNV TSSK1B:NM_032028:exon1:c.A510C:p.A170A 0.051 0.02 0.032 0.029 0.12 0.055 0.0997 0.0344 0.0378 0.0178 0.2384 0.1231 0.1222 0.0759 0.09 0.035 0.12 0.033 . rs26980 COSM4406921;COSM4406920 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1005 0.0315 0.0407 0.0996 0.0175 0.2402 0.1201 0.0976 0.0756 0.1100 0.0328 0.0525 0.0828 0.0204 0.2305 0.1381 0.1418 hom 3545.60 98 5 112770027 . T G 3545.60 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.15;MQ0=0;QD=36.18;VQSLOD=9.8066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3545,280,0 5 112929013 112929013 T A exonic YTHDC2 nonsynonymous SNV YTHDC2:NM_001345976:exon27:c.T3326A:p.L1109Q,YTHDC2:NM_001345975:exon28:c.T3740A:p.L1247Q,YTHDC2:NM_022828:exon29:c.T4226A:p.L1409Q 0.57 0.97 0.59 0.32 0.5 0.36 0.5271 0.9090 0.6612 0.3049 0.5406 0.5027 0.4956 0.4039 0.64 0.9 0.51 0.71 0.48 rs1132528 COSM3760886 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.537 N 1.000 0.205 P -1.505 0.005 N 1.65 0.276 T 1.67 0.006 N 0.072 0.061 -0.949 0.413 T 0.000 0.000 T . . . 1.908 0.290 15.64 0.337 0.020 0.088 0.145 N c -0.708 -0.396 0.947 0.277 0.706 0.609 0 5.98 0.971 2.409 0.440 0.242 0.267 1.000 0.715 1.000 0.888 10.669 0.448 YTH domain ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11|ENSG00000047188.11 Adipose_Visceral_Omentum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.5250 0.9148 0.6483 0.3651 0.3041 0.5354 0.5149 0.4998 0.4054 0.6275 0.9060 0.6325 0.3642 0.3456 0.5195 0.5308 0.5441 hom 1627.56 53 5 112929013 . T A 1627.56 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.98;MQ0=0;QD=30.71;VQSLOD=8.9109;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1661,129,0 5 113698544 113698544 G C exonic KCNN2 synonymous SNV KCNN2:NM_021614:exon1:c.G72C:p.L24L 0.54 0.34 0.53 0.85 0.46 0.57 0.5110 0.3801 0.5562 0.8605 0.4809 0.4610 0.4975 0.5741 0.42 0.37 0.45 0.3 0.38 rs40179 COSM3760887;COSM3760888 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5112 0.3648 0.5573 0.4657 0.8619 0.4697 0.4524 0.4801 0.5743 0.4563 0.3671 0.5120 0.4295 0.8727 0.4640 0.4563 0.4928 het 156.45 28 5 113698544 . G C 156.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.297;DP=28;Dels=0.00;FS=1.637;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.432;QD=5.59;ReadPosRankSum=-0.280;VQSLOD=4.0255;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,8:28:99:186,0,594 5 113829121 113829121 A G exonic KCNN2 synonymous SNV KCNN2:NM_170775:exon5:c.A360G:p.E120E,KCNN2:NM_001278204:exon6:c.A360G:p.E120E,KCNN2:NM_021614:exon7:c.A1404G:p.E468E 0.97 0.9 0.99 1. 1. 1. 0.9917 0.9084 0.9964 1 1 0.9998 0.9967 0.9999 0.97 0.91 1. 0.95 0.98 rs1841251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9934 0.9057 0.9962 1 1 1 0.9998 0.9965 0.9998 0.9730 0.9061 0.9928 1 1 1 0.9995 0.9969 hom 3300.03 107 5 113829121 . A G 3300.03 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7452;MQ=59.55;MQ0=0;QD=30.84;VQSLOD=8.8844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3300,250,0 5 114462355 114462355 C T exonic TRIM36 nonsynonymous SNV TRIM36:NM_001300752:exon9:c.G1567A:p.D523N,TRIM36:NM_001300759:exon10:c.G1996A:p.D666N,TRIM36:NM_018700:exon10:c.G2032A:p.D678N 0.94 0.87 0.96 0.93 0.96 0.99 0.9495 0.8819 0.9851 0.9297 0.9333 0.9480 0.9657 0.9889 0.93 0.88 0.95 0.9 0.97 rs2974617 COSM1178499 1(prostate) . . . . . . . . . . . 0.462 0.087 T 0.0 0.026 B 0.0 0.040 B 0.024 0.264 N 1 0.090 P 0 0.065 N 0.23 0.597 T 0.79 0.019 N 0.046 0.026 -1.006 0.282 T 0.000 0.000 T . . . 0.777 0.168 9.323 0.947 0.248 0.039 0.092 N c -1.044 -0.977 0.000 0.052 0.554 0.246 0 1.04 0.191 0.376 0.201 -0.215 0.099 0.000 0.063 0.829 0.346 11.233 0.480 B30.2/SPRY domain|Butyrophylin-like|Concanavalin A-like lectin/glucanase domain . . 0.9533 0.8833 0.9841 0.9849 0.9279 0.9318 0.9489 0.9597 0.9892 0.9283 0.8866 0.9797 0.9868 0.9259 0.9347 0.9457 0.9532 het 990.55 79 5 114462355 . C T 990.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.103;DP=79;Dels=0.00;FS=1.865;HRun=1;HaplotypeScore=1.9972;MQ=58.88;MQ0=0;MQRankSum=1.456;QD=12.54;ReadPosRankSum=0.034;VQSLOD=6.1833;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,39:79:99:1021,0,1175 5 114480364 114480364 C T exonic TRIM36 synonymous SNV TRIM36:NM_001300752:exon3:c.G237A:p.L79L,TRIM36:NM_001300759:exon4:c.G666A:p.L222L,TRIM36:NM_018700:exon4:c.G702A:p.L234L 0.34 0.58 0.29 0.43 0.079 0.23 0.1953 0.5289 0.3196 0.3883 0.1342 0.1017 0.1468 0.2021 0.24 0.52 0.097 0.37 0.074 rs7716270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1920 0.5381 0.3104 0.0788 0.3998 0.1332 0.0991 0.1538 0.1977 0.2503 0.5406 0.2864 0.0629 0.3995 0.1193 0.1054 0.1385 het 1466.58 111 5 114480364 . C T 1466.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.753;DP=111;Dels=0.00;FS=7.974;HRun=0;HaplotypeScore=1.8268;MQ=58.72;MQ0=0;MQRankSum=-0.535;QD=13.21;ReadPosRankSum=-1.374;VQSLOD=4.6592;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,59:111:99:1497,0,1405 5 115298378 115298378 C T exonic LVRN synonymous SNV LVRN:NM_173800:exon1:c.C64T:p.L22L 0.78 0.85 0.81 0.75 0.78 0.67 0.7832 0.8492 0.7666 0.7527 0.8202 0.8068 0.7786 0.6711 0.84 0.86 0.82 0.26 0.67 rs10062297 COSM1130961 1(prostate);2(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7826 0.8484 0.7750 0.7796 0.7576 0.8242 0.8072 0.7809 0.6623 0.8251 0.8480 0.7596 0.79 0.7804 0.8214 0.8233 0.8033 het 578.45 58 5 115298378 . C T 578.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.851;DP=58;Dels=0.00;FS=2.415;HRun=1;HaplotypeScore=2.5210;MQ=58.84;MQ0=0;MQRankSum=-1.258;QD=9.97;ReadPosRankSum=-0.264;VQSLOD=4.9004;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,27:58:99:608,0,787 5 115298475 115298475 T C exonic LVRN nonsynonymous SNV LVRN:NM_173800:exon1:c.T161C:p.L54S 0.77 0.85 0.8 0.75 0.78 0.66 0.7815 0.8438 0.7660 0.7467 0.8175 0.8045 0.7800 0.6711 0.82 0.85 0.81 0.38 0.72 rs12520255 . . . . . . . . . . . . . 0.724 0.039 T 0.0 0.026 B 0.0 0.013 B 0.257 0.037 N 1 0.090 P -1.1 0.010 N 5.13 0.013 T 0.95 0.015 N 0.035 0.015 -1.067 0.101 T 0.000 0.000 T . . . -0.904 0.036 0.025 0.420 0.030 0.006 0.027 N c -1.479 -1.469 0.999 0.376 0.598 0.340 0 -0.439 0.116 -0.905 0.042 -0.401 0.062 0.000 0.063 0.001 0.043 3.740 0.080 . . . 0.7817 0.8460 0.7747 0.7793 0.7545 0.8275 0.8051 0.7798 0.6628 0.8249 0.8478 0.7602 0.7914 0.7782 0.8219 0.8232 0.8020 het 633.20 71 5 115298475 . T C 633.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.380;DP=71;Dels=0.00;FS=3.744;HRun=0;HaplotypeScore=1.7608;MQ=59.32;MQ0=0;MQRankSum=-0.030;QD=8.92;ReadPosRankSum=-0.302;VQSLOD=6.1787;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,27:71:99:663,0,1206 5 115298518 115298518 A G exonic LVRN synonymous SNV LVRN:NM_173800:exon1:c.A204G:p.P68P . . . . . . 0.7814 0.8353 0.7661 0.7495 0.8171 0.8052 0.7795 0.6706 0.82 0.84 0.81 0.62 0.79 rs12522632 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7818 0.8375 0.7744 0.7792 0.7560 0.8273 0.8061 0.7791 0.6624 0.8221 0.8371 0.7572 0.7914 0.7783 0.8225 0.8236 0.8002 het 1115.34 117 5 115298518 . A G 1115.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.968;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5088;MQ=59.28;MQ0=0;MQRankSum=-0.089;QD=9.53;ReadPosRankSum=-0.434;VQSLOD=4.3464;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,52:117:99:1145,0,1688 5 115336862 115336862 T C exonic LVRN synonymous SNV LVRN:NM_173800:exon10:c.T1746C:p.N582N 0.25 0.31 0.24 0.23 0.33 0.14 0.2895 0.3188 0.1807 0.2245 0.3447 0.3403 0.3436 0.1511 0.34 0.31 0.35 0.3 0.3 rs7712021 COSM4003258;COSM4003259 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2871 0.3214 0.1919 0.3034 0.2272 0.3540 0.3422 0.2979 0.1514 0.3362 0.3283 0.2303 0.2947 0.2367 0.3444 0.3577 0.3163 het 1861.78 127 5 115336862 . T C 1861.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.589;DP=127;Dels=0.00;FS=3.212;HRun=0;HaplotypeScore=1.7331;MQ=59.33;MQ0=0;MQRankSum=-1.515;QD=14.66;ReadPosRankSum=-0.337;VQSLOD=5.8622;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,70:127:99:1892,0,1447 5 115341611 115341611 G T exonic LVRN synonymous SNV LVRN:NM_173800:exon13:c.G2040T:p.A680A 0.78 0.81 0.8 0.78 0.81 0.69 0.8040 0.7974 0.7688 0.7765 0.8816 0.8286 0.8227 0.7155 0.82 0.8 0.83 0.78 0.85 rs10078748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8057 0.7965 0.7724 0.7960 0.7770 0.8868 0.8313 0.8108 0.7133 0.8322 0.7902 0.7727 0.8179 0.7766 0.8872 0.8525 0.8469 hom 2728.25 92 5 115341611 . G T 2728.25 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=29.65;VQSLOD=9.0604;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2761,208,0 5 115341638 115341638 G C exonic LVRN nonsynonymous SNV LVRN:NM_173800:exon13:c.G2067C:p.L689F . . . . . . 0.8044 0.7992 0.7712 0.7770 0.8814 0.8284 0.8227 0.7166 0.82 0.8 0.83 0.78 0.85 rs10078759 . . . . . . . . . . . . . 0.046 0.405 D 0.413 0.333 B 0.148 0.324 B 0.058 0.224 N 1.000 0.182 P 2.105 0.586 M 3.04 0.088 T -2.55 0.551 D 0.41 0.501 -1.111 0.030 T 0.000 0.000 T . . . 4.621 0.619 24.5 0.995 0.660 0.763 0.371 D c -0.039 0.024 0.000 0.038 0.554 0.246 0 2.97 0.333 0.933 0.283 1.048 0.713 0.994 0.380 0.952 0.428 7.875 0.286 ERAP1-like C-terminal domain . . 0.8062 0.7986 0.7747 0.7945 0.7770 0.8868 0.8312 0.8110 0.7148 0.8323 0.7916 0.7710 0.8146 0.7759 0.8869 0.8523 0.8456 hom 2878.77 96 5 115341638 . G C 2878.77 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=29.99;VQSLOD=9.2024;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2912,217,0 5 115428334 115428334 G T exonic COMMD10 synonymous SNV COMMD10:NM_001308080:exon4:c.G294T:p.T98T,COMMD10:NM_016144:exon4:c.G336T:p.T112T 0.44 0.17 0.53 0.38 0.66 0.57 0.5733 0.2441 0.5027 0.4008 0.6158 0.6494 0.5958 0.5946 0.51 0.26 0.64 0.49 0.68 rs1129494 COSM149901 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5753 0.2344 0.5022 0.5897 0.4068 0.6172 0.6545 0.5907 0.5917 0.5064 0.2412 0.5407 0.6060 0.4332 0.6003 0.6369 0.5988 hom 3014.25 97 5 115428334 . G T 3014.25 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9868;MQ=59.55;MQ0=0;QD=31.07;VQSLOD=9.2263;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:97:99:3047,232,0 5 115469773 115469773 C T exonic COMMD10 synonymous SNV COMMD10:NM_001308080:exon5:c.C366T:p.T122T,COMMD10:NM_016144:exon5:c.C408T:p.T136T 0.43 0.14 0.54 0.38 0.66 0.57 0.5698 0.2159 0.5003 0.4017 0.6144 0.6485 0.5936 0.5923 0.5 0.23 0.64 0.45 0.66 rs1129496 COSM149902 1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5733 0.2068 0.5051 0.5891 0.4098 0.6149 0.6535 0.5915 0.5923 0.4992 0.2154 0.5420 0.6093 0.4379 0.5991 0.6362 0.6 hom 2479.18 78 5 115469773 . C T 2479.18 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=31.78;VQSLOD=9.6383;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2512,193,0 5 115813726 115813726 A G exonic SEMA6A nonsynonymous SNV SEMA6A:NM_001300780:exon14:c.T1552C:p.Y518H,SEMA6A:NM_020796:exon14:c.T1552C:p.Y518H 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 1 1 1.0000 1 1 . . . 1. . rs34966 COSM4591691 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 0.9999 1 1 0.9999 1 1 1 1 1 0.9999 1 hom 7614.67 245 5 115813726 . A G 7614.67 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4048;MQ=59.43;MQ0=0;QD=31.08;VQSLOD=7.9589;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:7614,581,0 5 118484804 118484804 G A exonic DMXL1 synonymous SNV DMXL1:NM_001290321:exon18:c.G3282A:p.E1094E,DMXL1:NM_001290322:exon18:c.G2763A:p.E921E,DMXL1:NM_005509:exon18:c.G3282A:p.E1094E,DMXL1:NM_001349239:exon19:c.G3282A:p.E1094E,DMXL1:NM_001349240:exon19:c.G3282A:p.E1094E 0.62 0.46 0.63 0.95 0.48 0.63 0.5545 0.4885 0.7344 0.9684 0.6086 0.4638 0.5341 0.5996 0.48 0.48 0.48 0.6 0.4 rs7734532 COSM4880439;COSM4880440 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5670 0.4828 0.7210 0.3800 0.9678 0.6065 0.4728 0.5088 0.5996 0.5380 0.4900 0.6806 0.4139 0.9688 0.5974 0.4990 0.5611 het 2108.40 215 5 118484804 . G A 2108.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.493;DP=215;Dels=0.00;FS=6.944;HRun=1;HaplotypeScore=3.7909;MQ=58.74;MQ0=0;MQRankSum=1.235;QD=9.81;ReadPosRankSum=-1.017;VQSLOD=4.2939;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:132,83:215:99:2138,0,3637 5 118513876 118513876 G A exonic DMXL1 nonsynonymous SNV DMXL1:NM_001290321:exon28:c.G7072A:p.A2358T,DMXL1:NM_001290322:exon28:c.G6553A:p.A2185T,DMXL1:NM_005509:exon28:c.G7072A:p.A2358T,DMXL1:NM_001349239:exon29:c.G7072A:p.A2358T,DMXL1:NM_001349240:exon29:c.G7072A:p.A2358T 0.03 0.0038 0.032 0.011 0.061 0.053 0.0496 0.0105 0.0354 0.0067 0.0632 0.0635 0.0606 0.0441 0.044 0.012 0.061 0.033 0.066 rs79460759 . . . . . . . . . . . . . 0.476 0.085 T 0.629 0.383 P 0.109 0.298 B 0.000 0.559 D 1.000 0.489 D 1.62 0.416 L 2.95 0.097 T -1.39 0.344 N 0.259 0.678 -0.956 0.400 T 0.003 0.010 T . . . 2.132 0.317 17.06 0.974 0.334 0.952 0.636 D c 0.114 0.294 0.998 0.368 0.707 0.730 0 5.72 0.893 7.325 0.782 1.048 0.713 1.000 0.715 0.965 0.450 19.896 0.969 . . . 0.0509 0.0094 0.0369 0.0776 0.0066 0.0678 0.0628 0.0642 0.0449 0.0473 0.0091 0.0312 0.0795 0.0074 0.0722 0.0674 0.0611 het 959.98 60 5 118513876 . G A 959.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.546;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7334;MQ=59.23;MQ0=0;MQRankSum=-1.079;QD=16.00;ReadPosRankSum=1.049;VQSLOD=5.0723;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,37:60:99:990,0,587 5 118811533 118811533 G A exonic HSD17B4 nonsynonymous SNV HSD17B4:NM_001199292:exon5:c.G263A:p.R88H,HSD17B4:NM_000414:exon6:c.G317A:p.R106H,HSD17B4:NM_001199291:exon7:c.G392A:p.R131H,HSD17B4:NM_001292027:exon7:c.G245A:p.R82H 0.36 0.11 0.51 0.51 0.45 0.36 0.4400 0.1695 0.5682 0.5166 0.5176 0.4643 0.4603 0.3511 0.36 0.18 0.46 0.29 0.42 rs25640 COSM1432658 5(prostate) Benign|Benign|Benign\x2cPathogenic not_specified|Perrault_Syndrome|Bifunctional_peroxisomal_enzyme_deficiency\x2cBifunctional_peroxisomal_enzyme_deficiency RCV000179310.3|RCV000362861.1|RCV000391832.1\x2cRCV000008096.2 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239459|C0342870:261515:ORPHA300:238068007\x2cC0342870:261515:ORPHA300:238068007 . . . . . . 0.02 0.586 D 0.996 0.670 D 0.687 0.518 P 0.000 0.629 D 0.000 0.810 P 0.995 0.252 L -2.29 0.876 D -3.39 0.669 D 0.624 0.662 -0.975 0.361 T 0.000 0.000 T . . . 7.301 0.948 34 0.998 0.912 0.990 0.904 D c 0.523 0.617 1.000 0.747 0.732 0.924 0 5.67 0.876 7.758 0.840 1.048 0.713 1.000 0.715 0.997 0.653 19.358 0.944 NAD(P)-binding domain ENSG00000133835.10|ENSG00000133835.10|ENSG00000133835.10 Cells_Transformed_fibroblasts|Nerve_Tibial|Stomach 0.4514 0.1648 0.5608 0.5064 0.5204 0.5080 0.4579 0.4627 0.3520 0.3954 0.1780 0.5180 0.4735 0.5075 0.5159 0.4671 0.4990 het 463 75 5 118811533 . G A 463 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.926;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.69;MQ0=0;MQRankSum=0.273;QD=6.17;ReadPosRankSum=-0.471;VQSLOD=5.6986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,22:75:99:493,0,1332 5 118835033 118835033 C T exonic HSD17B4 nonsynonymous SNV HSD17B4:NM_001199292:exon12:c.C940T:p.L314F,HSD17B4:NM_000414:exon13:c.C994T:p.L332F,HSD17B4:NM_001292028:exon13:c.C574T:p.L192F,HSD17B4:NM_001199291:exon14:c.C1069T:p.L357F,HSD17B4:NM_001292027:exon14:c.C922T:p.L308F . . . . . . 5.799e-05 0 0 0 0 0.0001 0 0 0.0001 . 0.0001 . . rs370579120 . . . . . . . . . . . . . 0.517 0.183 T 0.009 0.139 B 0.005 0.133 B 0.008 0.312 N 0.676 0.332 D 0.75 0.191 N -1.22 0.788 T 0.0 0.073 N 0.15 0.192 -0.952 0.407 T 0.168 0.508 T 0.018 0.400 T -0.202 0.076 1.087 0.676 0.082 0.029 0.076 N c -1.369 -1.362 0.092 0.162 0.732 0.924 0 -1.54 0.081 -1.455 0.025 -0.486 0.053 0.000 0.063 0.926 0.400 5.753 0.173 HotDog domain . . 6.102e-05 0 5.958e-05 0 0 0 0.0001 0 0 3.23e-05 0 0 0 0 0 6.662e-05 0 het 755.45 67 5 118835033 . C T 755.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.560;DP=67;Dels=0.00;FS=5.207;HRun=1;HaplotypeScore=2.7802;MQ=58.34;MQ0=0;MQRankSum=1.456;QD=11.28;ReadPosRankSum=-1.161;VQSLOD=3.1750;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,34:67:99:785,0,909 5 118861713 118861713 A G exonic HSD17B4 nonsynonymous SNV HSD17B4:NM_001199292:exon18:c.A1621G:p.I541V,HSD17B4:NM_000414:exon19:c.A1675G:p.I559V,HSD17B4:NM_001292028:exon19:c.A1255G:p.I419V,HSD17B4:NM_001199291:exon20:c.A1750G:p.I584V,HSD17B4:NM_001292027:exon20:c.A1603G:p.I535V 0.4 0.41 0.47 0.42 0.41 0.31 0.4110 0.3914 0.5341 0.4060 0.5089 0.4153 0.3943 0.2844 0.4 0.4 0.41 0.37 0.43 rs11205 COSM1130959 1(haematopoietic_and_lymphoid_tissue);5(prostate);4(large_intestine);1(biliary_tract) Benign|Benign|Benign not_specified|Bifunctional_peroxisomal_enzyme_deficiency|Perrault_Syndrome RCV000221678.2|RCV000290935.1|RCV000385277.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0342870:261515:ORPHA300:238068007|CN239459 . . . . . . 0.275 0.241 T 0.791 0.427 P 0.332 0.404 B 0.000 0.843 D 0.000 0.588 P 1.4 0.355 L -1.4 0.805 T -0.48 0.166 N 0.112 0.390 -0.983 0.344 T 0.000 0.000 T . . . 2.758 0.392 21.1 0.994 0.644 0.968 0.708 D c 0.052 0.202 1.000 0.747 0.706 0.609 0 5.39 0.775 4.202 0.580 1.140 0.893 1.000 0.715 0.995 0.604 14.383 0.663 HotDog domain|MaoC-like domain ENSG00000133835.10|ENSG00000145779.7|ENSG00000133835.10|ENSG00000133835.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Stomach 0.4185 0.3873 0.5296 0.4586 0.4128 0.5036 0.4066 0.4079 0.2868 0.4172 0.3921 0.4746 0.4631 0.3986 0.5094 0.4070 0.4446 het 826.92 65 5 118861713 . A G 826.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.271;DP=65;Dels=0.00;FS=6.343;HRun=0;HaplotypeScore=0.9789;MQ=57.88;MQ0=0;MQRankSum=-0.518;QD=12.72;ReadPosRankSum=0.046;VQSLOD=4.8369;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,32:65:99:857,0,935 5 118969960 118969960 C T exonic FAM170A nonsynonymous SNV FAM170A:NM_001163991:exon2:c.C376T:p.P126S,FAM170A:NM_182761:exon3:c.C517T:p.P173S 0.44 0.35 0.39 0.49 0.45 0.56 0.4473 0.3467 0.3606 0.5096 0.4197 0.4478 0.4467 0.5446 0.41 0.34 0.44 0.37 0.43 rs328694 COSM1130958 1(haematopoietic_and_lymphoid_tissue);5(prostate);1(large_intestine) . . . . . . . . . . . 0.268 0.161 T 1.0 0.899 D 0.998 0.916 D 0.000 0.629 D 1 0.090 P 2.81 0.821 M 0.98 0.421 T -2.28 0.508 N 0.022 0.005 -0.914 0.464 T 0.000 0.000 T . . . 3.125 0.435 22.6 0.990 0.501 0.033 0.082 N c -0.289 -0.504 0.001 0.074 0.487 0.133 0 2.11 0.262 0.996 0.291 0.068 0.175 0.025 0.199 0.157 0.207 3.731 0.080 . . . 0.4465 0.3430 0.3639 0.5485 0.5096 0.4297 0.4420 0.4648 0.5453 0.4071 0.3401 0.3998 0.5633 0.4981 0.4186 0.4307 0.4122 het 2485.71 190 5 118969960 . C T 2485.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.512;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6567;MQ=59.32;MQ0=0;MQRankSum=-0.684;QD=13.08;ReadPosRankSum=-0.586;VQSLOD=6.4903;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:96,94:190:99:2516,0,2665 5 120021819 120021819 G A exonic PRR16 synonymous SNV PRR16:NM_001300783:exon2:c.G330A:p.P110P,PRR16:NM_001308087:exon2:c.G120A:p.P40P,PRR16:NM_016644:exon3:c.G261A:p.P87P,PRR16:NM_001308088:exon4:c.G120A:p.P40P 0.98 0.93 1. 1. 1. 1. 0.9942 0.9362 0.9983 1 1 0.9997 0.9978 0.9999 0.98 0.94 1. 0.88 0.98 rs1158194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9350 0.9978 0.9969 1 1 0.9999 0.9978 0.9999 0.9814 0.9347 0.9988 1 1 1 0.9999 0.9949 hom 6082.58 192 5 120021819 . G A 6082.58 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1983;MQ=58.86;MQ0=0;QD=31.68;VQSLOD=7.5384;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:192:99:6082,487,0 5 121488506 121488506 C G exonic ZNF474 nonsynonymous SNV ZNF474:NM_207317:exon2:c.C821G:p.S274C 0.25 0.09 0.24 0.39 0.27 0.3 0.2858 0.1100 0.2366 0.3883 0.3347 0.2886 0.3051 0.3453 0.23 0.12 0.28 0.21 0.35 rs35262183 COSM4003272 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.025 0.473 D 0.985 0.592 D 0.408 0.429 B 0.537 0.116 U 1 0.090 P 2.39 0.691 M 0.78 0.494 T -1.97 0.456 N 0.06 0.044 -0.957 0.397 T 0.000 0.000 T . . . 0.841 0.174 9.713 0.908 0.194 0.034 0.084 N c -0.625 -0.776 1.000 0.437 0.487 0.133 0 2.52 0.294 1.001 0.292 -0.477 0.053 0.002 0.151 0.002 0.062 7.621 0.272 . . . 0.2875 0.1060 0.2257 0.3421 0.3849 0.3361 0.2854 0.2824 0.3465 0.2478 0.1091 0.2136 0.3113 0.3986 0.3452 0.2893 0.2638 het 1378.29 95 5 121488506 . C G 1378.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.431;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.76;MQ0=0;MQRankSum=-1.113;QD=14.51;ReadPosRankSum=-0.633;VQSLOD=6.2369;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,53:95:99:1408,0,1180 5 122682348 122682348 A G exonic CEP120 synonymous SNV CEP120:NM_001166226:exon20:c.T2748C:p.D916D,CEP120:NM_153223:exon21:c.T2826C:p.D942D 0.68 0.72 0.67 0.59 0.74 0.67 0.6938 0.7500 0.6247 0.5782 0.7158 0.7158 0.7280 0.6675 0.73 0.76 0.71 0.76 0.64 rs1047438 COSM1432712 1(breast);1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6904 0.7523 0.6344 0.7341 0.5750 0.7113 0.7141 0.7046 0.6678 0.7113 0.7528 0.6459 0.7649 0.5887 0.7158 0.7036 0.6813 hom 4881.29 163 5 122682348 . A G 4881.29 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=58.82;MQ0=0;QD=29.95;VQSLOD=9.1962;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:4880,403,0 5 122718736 122718736 G C exonic CEP120 nonsynonymous SNV CEP120:NM_001166226:exon12:c.C1726G:p.L576V,CEP120:NM_153223:exon13:c.C1804G:p.L602V 0.41 0.29 0.41 0.51 0.45 0.45 0.4280 0.3271 0.3966 0.4865 0.4447 0.4296 0.4382 0.4666 0.39 0.32 0.43 0.38 0.049 rs6595440 . . . . . . . . . . . . . 0.005 0.632 D 1.0 0.899 D 0.999 0.916 D 0.000 0.513 N 0.001 0.452 P 2.78 0.814 M 0.14 0.609 T -2.15 0.503 N 0.124 0.240 -0.910 0.469 T 0.000 0.000 T . . . 4.672 0.626 24.5 0.998 0.856 0.918 0.540 D c 0.245 0.160 0.678 0.224 0.651 0.465 0 1.93 0.249 2.835 0.476 0.142 0.226 1.000 0.715 0.994 0.587 6.920 0.234 . . . 0.4211 0.3165 0.3909 0.3463 0.4775 0.4422 0.4281 0.4137 0.4595 0.4028 0.3212 0.3914 0.3179 0.4793 0.4527 0.4317 0.4194 het 155.75 21 5 122718736 . G C 155.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.426;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=55.81;MQ0=0;MQRankSum=0.872;QD=7.42;ReadPosRankSum=1.902;VQSLOD=4.7123;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,8:21:99:186,0,291 5 122727026 122727026 G A exonic CEP120 synonymous SNV CEP120:NM_001166226:exon7:c.C738T:p.H246H,CEP120:NM_153223:exon8:c.C816T:p.H272H 0.46 0.47 0.42 0.51 0.45 0.45 0.4398 0.4670 0.3997 0.4848 0.4463 0.4301 0.4420 0.4649 0.44 0.47 0.43 0.48 0.34 rs6876883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4378 0.4693 0.4029 0.3554 0.4792 0.4454 0.4365 0.4280 0.4643 0.4463 0.4645 0.3995 0.3278 0.4801 0.4541 0.4361 0.4328 het 1702.49 125 5 122727026 . G A 1702.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.278;DP=125;DS;Dels=0.00;FS=3.736;HRun=0;HaplotypeScore=7.9747;MQ=59.12;MQ0=0;MQRankSum=0.989;QD=13.62;ReadPosRankSum=-0.605;VQSLOD=4.7169;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:60,63:125:99:1732,0,1726 5 123983915 123983915 G T exonic ZNF608 nonsynonymous SNV ZNF608:NM_020747:exon4:c.C2162A:p.T721N 0.63 0.71 0.45 0.75 0.55 0.61 0.5625 0.6605 0.4546 0.7503 0.6210 0.5296 0.5665 0.5873 0.56 0.66 0.51 0.71 0.45 rs6862252 . . . . . . . . . . . . . 0.484 0.081 T 0.0 0.026 B 0.0 0.013 B 0.032 0.251 N 1 0.090 P -1.905 0.002 N 0.98 0.421 T 0.62 0.029 N 0.012 0.001 -1.006 0.281 T 0.000 0.000 T . . . -0.422 0.060 0.342 0.783 0.118 0.026 0.072 N c -1.129 -0.974 1.000 0.415 0.707 0.730 0 -0.826 0.102 -0.380 0.074 0.145 0.233 0.035 0.205 0.994 0.587 7.473 0.264 . . . 0.5553 0.6656 0.4576 0.4979 0.7459 0.6145 0.5260 0.5301 0.5864 0.5836 0.6564 0.4569 0.4934 0.7423 0.6025 0.5307 0.5499 het 1117.32 80 5 123983915 . G T 1117.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.247;DP=80;Dels=0.00;FS=8.818;HRun=1;HaplotypeScore=0.8667;MQ=58.10;MQ0=0;MQRankSum=1.405;QD=13.97;ReadPosRankSum=0.847;VQSLOD=4.5638;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,41:80:99:1147,0,1090 5 123984763 123984763 C T exonic ZNF608 synonymous SNV ZNF608:NM_020747:exon4:c.G1314A:p.A438A 0.76 0.89 0.6 0.76 0.75 0.72 0.7449 0.8707 0.5570 0.7554 0.8166 0.7540 0.7550 0.7306 0.79 0.87 0.74 0.89 0.8 rs7708070 COSM4159379 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7346 0.8721 0.5641 0.7512 0.7495 0.8147 0.7492 0.7312 0.7297 0.7793 0.8583 0.6038 0.7219 0.7497 0.8050 0.7440 0.7429 het 1726.98 113 5 123984763 . C T 1726.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.084;DP=113;Dels=0.00;FS=1.668;HRun=1;HaplotypeScore=1.3990;MQ=59.59;MQ0=0;MQRankSum=0.451;QD=15.28;ReadPosRankSum=-1.078;VQSLOD=6.5617;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,59:113:99:1757,0,1296 5 125887715 125887715 T G exonic ALDH7A1 nonsynonymous SNV ALDH7A1:NM_001202404:exon12:c.A1123C:p.K375Q,ALDH7A1:NM_001182:exon14:c.A1315C:p.K439Q,ALDH7A1:NM_001201377:exon14:c.A1231C:p.K411Q 0.097 0.022 0.16 0.17 0.1 0.079 0.1059 0.0430 0.2606 0.1418 0.1256 0.0897 0.1079 0.0760 0.074 0.044 0.089 0.065 0.14 rs12514417 . . other|Likely benign not_specified|Pyridoxine-dependent_epilepsy RCV000116310.4|RCV000382229.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1849508:266100:ORPHA3006 . . . . . . 0.207 0.198 T 0.019 0.167 B 0.026 0.195 B 0.000 0.843 N 0.901 0.498 P 2.075 0.572 M -2.85 0.914 D -1.17 0.324 N 0.087 0.294 -0.814 0.544 T 0.008 0.029 T . . . 2.169 0.322 17.31 0.948 0.249 0.987 0.851 D c -0.199 -0.076 0.028 0.138 0.707 0.730 0 3.52 0.393 4.918 0.628 0.082 0.190 1.000 0.715 0.997 0.653 11.714 0.507 Aldehyde dehydrogenase domain|Aldehyde dehydrogenase\x2c C-terminal|Aldehyde/histidinol dehydrogenase . . 0.1139 0.0447 0.2412 0.0768 0.1407 0.1320 0.0908 0.1065 0.0785 0.0887 0.0399 0.1998 0.0695 0.1489 0.1280 0.0947 0.1029 het 377.22 42 5 125887715 . T G 377.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.251;DP=42;Dels=0.00;FS=2.755;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=-0.966;QD=8.98;ReadPosRankSum=0.437;VQSLOD=5.7980;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,17:42:99:407,0,662 5 126746277 126746277 C T exonic MEGF10 synonymous SNV MEGF10:NM_001256545:exon9:c.C1114T:p.L372L,MEGF10:NM_001308121:exon9:c.C1114T:p.L372L,MEGF10:NM_001308119:exon10:c.C1114T:p.L372L,MEGF10:NM_032446:exon10:c.C1114T:p.L372L 0.97 1. 0.96 1. 0.93 0.97 0.9447 0.9865 0.9676 0.9999 0.9266 0.9234 0.9499 0.9662 0.94 0.98 0.92 0.97 0.92 rs31483 . . Benign|Benign not_specified|Myopathy\x2c_areflexia\x2c_respiratory_distress\x2c_and_dysphagia\x2c_early-onset RCV000246324.2|RCV000305410.1 MedGen|MedGen:OMIM:Orphanet CN169374|C3280679:614399:ORPHA439212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9443 0.9872 0.9665 0.9508 0.9997 0.9252 0.9202 0.9377 0.9645 0.9399 0.9864 0.9582 0.9735 0.9994 0.9201 0.9111 0.9134 hom 1477.10 44 5 126746277 . C T 1477.10 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=58.95;MQ0=0;QD=33.57;VQSLOD=9.5848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1510,120,0 5 126792974 126792974 T A exonic MEGF10 synonymous SNV MEGF10:NM_001256545:exon25:c.T3387A:p.G1129G,MEGF10:NM_032446:exon26:c.T3387A:p.G1129G 0.38 0.16 0.47 0.3 0.64 0.42 0.5275 0.2226 0.4574 0.2906 0.6038 0.6241 0.5573 0.4698 0.49 0.24 0.62 0.29 0.57 rs3812052 COSM4003273 1(breast);3(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Likely benign not_specified|Myopathy\x2c_areflexia\x2c_respiratory_distress\x2c_and_dysphagia\x2c_early-onset RCV000252848.2|RCV000268761.1 MedGen|MedGen:OMIM:Orphanet CN169374|C3280679:614399:ORPHA439212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5301 0.2164 0.4622 0.6034 0.2922 0.5999 0.6247 0.5645 0.4718 0.4799 0.2239 0.4904 0.6093 0.2816 0.6080 0.6135 0.5389 hom 3668.84 111 5 126792974 . T A 3668.84 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.25;MQ0=0;QD=33.05;VQSLOD=9.3209;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3668,286,0 5 126887569 126887569 G A exonic PRRC1 synonymous SNV PRRC1:NM_001286808:exon9:c.G1299A:p.A433A,PRRC1:NM_130809:exon9:c.G1299A:p.A433A 0.39 0.32 0.45 0.55 0.29 0.37 0.3421 0.3015 0.4747 0.5531 0.2536 0.3055 0.3311 0.3483 0.31 0.31 0.31 0.41 0.42 rs7522 COSM3760897;COSM3760898 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3481 0.3056 0.4672 0.3636 0.5493 0.2666 0.3017 0.3402 0.3496 0.3097 0.2953 0.4439 0.3311 0.5529 0.2564 0.2958 0.3198 het 1264.56 101 5 126887569 . G A 1264.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.267;DP=101;Dels=0.00;FS=1.648;HRun=0;HaplotypeScore=3.4091;MQ=58.90;MQ0=0;MQRankSum=0.162;QD=12.52;ReadPosRankSum=-0.438;VQSLOD=6.3740;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,48:101:99:1295,0,1276 5 126993249 126993249 G C exonic CTXN3 synonymous SNV CTXN3:NM_001048252:exon3:c.G36C:p.V12V,CTXN3:NM_001127385:exon3:c.G36C:p.V12V 0.65 0.76 0.6 0.61 0.66 0.57 0.6498 0.7604 0.5809 0.6168 0.6723 0.6649 0.6876 0.5734 0.71 0.77 0.67 0.61 0.6 rs45074 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6482 0.7607 0.5907 0.7092 0.6226 0.6670 0.6637 0.6478 0.5802 0.6892 0.7638 0.5766 0.6887 0.6238 0.6688 0.6662 0.6544 hom 3687.43 107 5 126993249 . G C 3687.43 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.699;DP=107;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.8656;MQ=59.57;MQ0=0;MQRankSum=1.471;QD=34.46;ReadPosRankSum=1.634;VQSLOD=8.0721;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,105:107:99:3652,289,0 5 126993263 126993263 A T exonic CTXN3 nonsynonymous SNV CTXN3:NM_001048252:exon3:c.A50T:p.E17V,CTXN3:NM_001127385:exon3:c.A50T:p.E17V 0.65 0.77 0.6 0.61 0.66 0.57 0.6504 0.7637 0.5806 0.6179 0.6725 0.6648 0.6861 0.5757 0.71 0.77 0.67 0.61 0.6 rs248709 . . . . . . . . . . . . . 0.291 0.149 T 0.0 0.026 B 0.0 0.013 B 0.076 0.023 N 1 0.090 P . . . 1.49 0.315 T 0.81 0.018 N 0.05 0.036 -0.981 0.347 T 0.000 0.000 T . . . -0.303 0.068 0.655 0.764 0.111 0.004 0.021 N c -1.323 -1.429 0.092 0.162 0.487 0.133 0 -4.23 0.035 0.143 0.158 -0.798 0.032 0.000 0.063 0.002 0.062 5.049 0.137 . . . 0.6487 0.7639 0.5909 0.7094 0.6231 0.6670 0.6637 0.6479 0.5824 0.6902 0.7673 0.5779 0.69 0.6238 0.6684 0.6661 0.6548 hom 4196.35 129 5 126993263 . A T 4196.35 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=59.35;MQ0=0;QD=32.53;VQSLOD=9.0101;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4196,352,0 5 127469859 127469859 A G exonic SLC12A2 synonymous SNV SLC12A2:NM_001046:exon6:c.A1191G:p.E397E,SLC12A2:NM_001256461:exon6:c.A1191G:p.E397E 0.39 0.73 0.4 0.33 0.19 0.21 0.2795 0.6348 0.4158 0.3329 0.2050 0.2191 0.2379 0.2082 0.36 0.62 0.22 0.46 0.2 rs2228112 COSM3760899 4(haematopoietic_and_lymphoid_tissue);1(cervix);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2768 0.6421 0.4062 0.2616 0.3329 0.2128 0.2129 0.2469 0.2104 0.3443 0.6284 0.3624 0.2616 0.3364 0.2165 0.2162 0.2469 het 1334.37 115 5 127469859 . A G 1334.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.713;DP=115;Dels=0.00;FS=1.997;HRun=0;HaplotypeScore=1.6006;MQ=59.40;MQ0=0;MQRankSum=1.798;QD=11.60;ReadPosRankSum=-1.018;VQSLOD=6.2896;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,53:115:99:1364,0,1782 5 127597518 127597518 G A exonic FBN2 synonymous SNV FBN2:NM_001999:exon64:c.C8274T:p.S2758S 0.11 0.2 0.086 0.048 0.12 0.076 0.1043 0.1724 0.0710 0.0261 0.1466 0.1154 0.1101 0.0630 0.14 0.17 0.12 0.15 0.09 rs10070365 COSM4407171;COSM4407172 1(liver) Benign|Benign|Benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Congenital_contractural_arachnodactyly RCV000117034.4|RCV000243294.1|RCV000403969.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN118826:ORPHA91387|C0220668:121050:ORPHA115:205821003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1020 0.1735 0.0691 0.0524 0.0273 0.1441 0.1197 0.1107 0.0642 0.1328 0.1751 0.0823 0.0629 0.0334 0.1368 0.1237 0.1115 het 2604.74 197 5 127597518 . G A 2604.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.540;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4960;MQ=59.58;MQ0=0;MQRankSum=0.967;QD=13.22;ReadPosRankSum=0.621;VQSLOD=5.9433;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,95:197:99:2635,0,2949 5 127614472 127614472 A G exonic FBN2 synonymous SNV FBN2:NM_001999:exon57:c.T7200C:p.S2400S 0.73 0.61 0.71 0.85 0.7 0.79 0.7281 0.6259 0.6958 0.8721 0.7797 0.7167 0.7412 0.7649 0.68 0.63 0.7 0.64 0.71 rs190450 COSM5654035;COSM5654036 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Congenital_contractural_arachnodactyly RCV000117030.4|RCV000254449.1|RCV000269057.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN118826:ORPHA91387|C0220668:121050:ORPHA115:205821003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7267 0.6232 0.6903 0.7178 0.8776 0.7787 0.7088 0.7257 0.7634 0.7155 0.6347 0.6766 0.7119 0.8793 0.7811 0.7281 0.7694 hom 4119 126 5 127614472 . A G 4119 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=32.69;VQSLOD=9.4700;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4119,316,0 5 127685135 127685135 C T exonic FBN2 nonsynonymous SNV FBN2:NM_001999:exon23:c.G2893A:p.V965I 0.73 0.6 0.76 0.92 0.67 0.76 0.7234 0.6221 0.8277 0.9366 0.7146 0.6911 0.7196 0.7366 0.66 0.63 0.68 0.73 0.7 rs154001 COSM4984959;COSM4984960 1(haematopoietic_and_lymphoid_tissue);16(soft_tissue) Benign|Benign|Benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Congenital_contractural_arachnodactyly RCV000117020.4|RCV000244792.1|RCV000342582.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN118826:ORPHA91387|C0220668:121050:ORPHA115:205821003 . . . . . . 0.331 0.131 T 0.118 0.250 B 0.073 0.266 B 0.000 0.504 D 0.044 0.380 P -0.39 0.030 N -3.01 0.922 D -0.3 0.142 N 0.356 0.417 -0.947 0.416 T 0.000 0.000 T . . . 3.009 0.422 22.3 0.987 0.440 0.858 0.446 D c -0.267 -0.101 1.000 0.747 0.719 0.830 0 3.32 0.370 4.113 0.574 0.935 0.490 0.999 0.424 1.000 0.888 13.229 0.592 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|TB domain ENSG00000138829.6|ENSG00000138829.6|ENSG00000138829.6 Adipose_Subcutaneous|Artery_Tibial|Lung 0.7280 0.6180 0.8193 0.7722 0.9397 0.7092 0.6825 0.7102 0.7319 0.6947 0.6250 0.7655 0.7682 0.9442 0.7234 0.6936 0.7357 het 858.09 81 5 127685135 . C T 858.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.600;DP=81;Dels=0.00;FS=1.867;HRun=0;HaplotypeScore=0.9665;MQ=58.38;MQ0=0;MQRankSum=-0.630;QD=10.59;ReadPosRankSum=-0.495;VQSLOD=5.6530;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,33:81:99:888,0,1164 5 128301885 128301885 T G exonic SLC27A6 nonsynonymous SNV SLC27A6:NM_001017372:exon1:c.T55G:p.L19V,SLC27A6:NM_001317984:exon2:c.T55G:p.L19V,SLC27A6:NM_014031:exon2:c.T55G:p.L19V 0.21 0.19 0.25 0.059 0.37 0.19 0.3000 0.2093 0.2161 0.0665 0.2921 0.3719 0.3341 0.2337 0.32 0.22 0.38 0.15 0.45 rs2526247 COSM4408397 1(liver);1(skin) . . . . . . . . . . . 0.475 0.083 T 0.001 0.067 B 0.002 0.063 B 0.850 0.070 N 1 0.090 P 0.9 0.233 L 0.61 0.535 T -0.91 0.245 N 0.034 0.015 -1.026 0.217 T 0.000 0.000 T . . . -1.605 0.015 0.002 0.613 0.065 0.012 0.043 N c -1.886 -2.007 1.000 0.747 0.767 0.994 0 -8.9 0.007 -7.556 0.000 -1.693 0.008 0.000 0.063 0.021 0.135 2.438 0.042 . ENSG00000113396.8|ENSG00000113396.8|ENSG00000113396.8|ENSG00000113396.8|ENSG00000113396.8|ENSG00000113396.8|ENSG00000113396.8|ENSG00000066583.7|ENSG00000113396.8 Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Esophagus_Mucosa|Nerve_Tibial|Testis|Testis 0.2872 0.2030 0.2093 0.3884 0.0632 0.2937 0.3717 0.3239 0.1995 0.2895 0.2048 0.2434 0.3742 0.0556 0.2931 0.3617 0.3262 het 1170.42 117 5 128301885 . T G 1170.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.882;DP=117;Dels=0.00;FS=3.150;HRun=0;HaplotypeScore=2.5257;MQ=59.28;MQ0=0;MQRankSum=0.003;QD=10.00;ReadPosRankSum=-1.279;VQSLOD=6.0786;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,51:117:99:1200,0,1967 5 128301971 128301971 T C exonic SLC27A6 synonymous SNV SLC27A6:NM_001017372:exon1:c.T141C:p.Y47Y,SLC27A6:NM_001317984:exon2:c.T141C:p.Y47Y,SLC27A6:NM_014031:exon2:c.T141C:p.Y47Y 0.2 0.17 0.26 0.059 0.37 0.19 0.2919 0.2004 0.2141 0.0663 0.2921 0.3700 0.3259 0.2038 0.32 0.22 0.38 0.16 0.52 rs2577541 COSM4408686 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2915 0.1960 0.2125 0.3965 0.0637 0.2984 0.3750 0.3310 0.2050 0.2866 0.1957 0.2386 0.3742 0.0557 0.2930 0.3616 0.3235 het 2644.62 217 5 128301971 . T C 2644.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.688;DP=217;Dels=0.00;FS=3.084;HRun=0;HaplotypeScore=7.3946;MQ=58.74;MQ0=0;MQRankSum=2.036;QD=12.19;ReadPosRankSum=0.034;VQSLOD=4.5156;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,113:217:99:2675,0,2644 5 128430757 128430757 T C exonic ISOC1 synonymous SNV ISOC1:NM_016048:exon1:c.T298C:p.L100L 0.81 0.97 0.75 0.87 0.6 0.78 0.7043 0.9192 0.8050 0.8736 0.6616 0.6201 0.6650 0.7760 0.71 0.91 0.61 0.72 0.48 rs1127827 COSM3760902 1(oesophagus);2(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6989 0.9222 0.7976 0.6199 0.8790 0.6540 0.6080 0.6686 0.7648 0.7290 0.9181 0.7560 0.6433 0.8888 0.6632 0.6200 0.6875 het 329.68 32 5 128430757 . T C 329.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6644;MQ=59.28;MQ0=0;MQRankSum=-0.361;QD=10.30;ReadPosRankSum=0.171;VQSLOD=6.6498;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,14:32:99:360,0,572 5 128863471 128863471 A G exonic ADAMTS19 nonsynonymous SNV ADAMTS19:NM_133638:exon5:c.A1117G:p.S373G 1. 1. 1. 1. 1. 1. 0.9954 0.9996 0.9969 1 0.9977 0.9933 0.9944 0.9969 1. 1. 0.99 1. 0.66 rs6595908 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.765 0.000 N -0.06 0.636 T 5.38 0.000 N 0.065 0.051 -0.956 0.400 T 0.000 0.000 T . . . 1.132 0.203 11.39 0.845 0.148 0.057 0.115 N c -0.633 -0.347 0.005 0.109 0.706 0.609 0 4.41 0.524 5.505 0.665 0.138 0.222 1.000 0.715 0.997 0.653 11.874 0.516 Metallopeptidase\x2c catalytic domain|Peptidase M12B\x2c ADAM/reprolysin . . 0.9960 0.9993 0.9971 0.9997 1 0.9982 0.9937 0.9955 0.9965 0.9973 0.9994 1 0.9967 1 0.9970 0.9958 0.9969 hom 2285.93 85 5 128863471 . A G 2285.93 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=59.01;MQ0=0;QD=26.89;VQSLOD=6.9401;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2319,169,0 5 129040056 129040056 A T exonic ADAMTS19 nonsynonymous SNV ADAMTS19:NM_133638:exon21:c.A3284T:p.Y1095F 0.071 0.0083 0.1 0.002 0.16 0.11 0.1357 0.0323 0.0818 0.0005 0.1553 0.1824 0.1449 0.1125 0.14 0.04 0.18 0.033 0.23 rs11749126 COSM3736365 1(skin) . . . . . . . . . . . 0.149 0.247 T 0.058 0.215 B 0.022 0.184 B 0.000 0.629 D 0.000 0.494 P 1.285 0.324 L 0.19 0.603 T -1.64 0.393 N 0.289 0.348 -1.088 0.058 T 0.000 0.001 T . . . 2.498 0.361 19.45 0.968 0.305 0.912 0.527 D c -0.102 0.058 0.971 0.292 0.707 0.730 0 4.29 0.502 3.718 0.544 1.199 0.960 0.997 0.399 0.997 0.653 14.489 0.671 . . . 0.1346 0.0311 0.0828 0.1109 0.0004 0.1510 0.1905 0.1355 0.1108 0.1249 0.0344 0.1014 0.0993 0 0.1551 0.1838 0.1558 het 2348.29 182 5 129040056 . A T 2348.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.755;DP=182;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7232;MQ=59.75;MQ0=0;MQRankSum=0.978;QD=12.90;ReadPosRankSum=1.651;VQSLOD=4.2919;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,89:182:99:2378,0,2442 5 129521126 129521126 A G exonic CHSY3 nonsynonymous SNV CHSY3:NM_175856:exon3:c.A2291G:p.D764G 0.57 0.23 0.67 0.66 0.76 0.65 0.6882 0.3247 0.6574 0.6490 0.7446 0.7500 0.7368 0.6824 0.61 0.34 0.75 0.48 0.79 rs2015018 COSM4003281 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.139 0.257 T 0.001 0.067 B 0.001 0.040 B 0.339 0.140 N 0.792 0.292 P 1.005 0.253 L 2.4 0.156 T -1.56 0.377 N 0.03 0.011 -1.047 0.153 T 0.000 0.000 T . . . -0.364 0.064 0.472 0.824 0.137 0.836 0.424 D c -0.786 -0.777 0.000 0.042 0.638 0.428 0 1.72 0.234 2.906 0.482 -0.214 0.099 1.000 0.715 0.299 0.237 6.830 0.229 Nucleotide-diphospho-sugar transferases . . 0.6974 0.3220 0.6704 0.7669 0.6493 0.7464 0.7509 0.7389 0.6815 0.6116 0.3374 0.6842 0.7867 0.6161 0.7352 0.7273 0.7168 het 1760.24 130 5 129521126 . A G 1760.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.594;DP=130;Dels=0.00;FS=11.159;HRun=1;HaplotypeScore=3.7304;MQ=58.71;MQ0=0;MQRankSum=-0.892;QD=13.54;ReadPosRankSum=0.453;VQSLOD=4.2015;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,67:130:99:1790,0,1593 5 130766662 130766662 T C exonic RAPGEF6 nonsynonymous SNV RAPGEF6:NM_016340:exon26:c.A4355G:p.Q1452R,RAPGEF6:NM_001164386:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164388:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164387:exon28:c.A4394G:p.Q1465R 0.9 0.98 0.9 0.9 0.83 0.85 0.8598 0.9629 0.8931 0.8893 0.8296 0.8372 0.8447 0.8606 0.88 0.96 0.84 0.94 0.77 rs1291602 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.211 P -1.955 0.002 N 2.77 0.114 T 0.95 0.015 N 0.061 0.059 -0.959 0.393 T 0.000 0.000 T . . . 0.699 0.161 8.821 0.847 0.149 0.159 0.189 N c -0.762 -0.430 1.000 0.747 0.719 0.830 0 5.22 0.722 4.828 0.622 0.069 0.176 1.000 0.715 0.980 0.490 14.342 0.660 . ENSG00000158985.9|ENSG00000158985.9|ENSG00000158987.15|ENSG00000158985.9 Artery_Aorta|Artery_Tibial|Testis|Thyroid 0.8608 0.9651 0.8920 0.8938 0.8876 0.8264 0.8372 0.8584 0.8603 0.8759 0.9603 0.8822 0.8808 0.8748 0.8193 0.8401 0.8676 hom 6795.46 224 5 130766662 . T C 6795.46 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2517;MQ=59.60;MQ0=0;QD=30.34;VQSLOD=8.6210;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:6794,551,0 5 131008194 131008194 T C exonic FNIP1 nonsynonymous SNV FNIP1:NM_001008738:exon13:c.A1859G:p.Q620R,FNIP1:NM_001346114:exon13:c.A1808G:p.Q603R,FNIP1:NM_133372:exon14:c.A1943G:p.Q648R 0.87 0.9 0.81 0.79 0.94 0.87 0.8901 0.9030 0.7325 0.7947 0.8781 0.9324 0.9141 0.8753 0.93 0.9 0.94 0.87 0.97 rs26008 . . . . . . . . . . . . . 0.805 0.031 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.227 P 0 0.065 N 2.62 0.130 T 0.02 0.068 N 0.007 0.005 -1.005 0.285 T 0.000 0.000 T . . . -1.940 0.009 0.001 0.728 0.098 0.035 0.085 N c -1.284 -1.267 1.000 0.747 0.507 0.198 0 -1.92 0.072 -0.007 0.126 -0.597 0.044 0.018 0.193 0.714 0.313 14.746 0.690 . ENSG00000239642.1 Whole_Blood 0.8845 0.9042 0.7502 0.9317 0.7933 0.8775 0.9357 0.9033 0.8756 0.9031 0.9010 0.8067 0.9570 0.8014 0.8812 0.9252 0.8939 hom 6524.73 211 5 131008194 . T C 6524.73 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9920;MQ=59.34;MQ0=0;QD=30.92;VQSLOD=8.9989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6524,533,0 5 131066725 131066725 C A exonic FNIP1 nonsynonymous SNV FNIP1:NM_001008738:exon3:c.G226T:p.G76C,FNIP1:NM_001346113:exon3:c.G226T:p.G76C,FNIP1:NM_133372:exon3:c.G226T:p.G76C 1. 1. 1. 1. 0.99 1. 0.9957 0.9990 0.9996 0.9999 0.9806 0.9946 0.9967 0.9990 1. 1. 1. 1. 0.98 rs7730228 . . . . . . . . . . . . . 0.474 0.191 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P 0.345 0.112 N 0.97 0.425 T 1.56 0.007 N 0.074 0.291 -0.974 0.364 T 0.000 0.000 T . . . 3.263 0.451 22.8 0.436 0.033 0.181 0.199 N c -0.510 -0.272 0.014 0.125 0.651 0.465 0 5.16 0.704 3.808 0.551 0.242 0.267 1.000 0.715 0.998 0.697 11.428 0.491 Folliculin-interacting protein\x2c N-terminal domain . . 0.9957 0.9991 0.9988 0.9956 0.9999 0.9833 0.9952 0.9958 0.9991 0.9944 0.9998 0.9988 0.9967 1 0.9831 0.9932 0.9919 hom 2675.71 84 5 131066725 . C A 2675.71 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=31.85;VQSLOD=9.0590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2709,211,0 5 131602166 131602166 T C exonic PDLIM4 synonymous SNV PDLIM4:NM_001131027:exon3:c.T255C:p.G85G,PDLIM4:NM_003687:exon3:c.T255C:p.G85G 0.48 0.59 0.51 0.38 0.61 0.3 0.5389 0.5965 0.4201 0.3299 0.4834 0.6352 0.5223 0.3293 0.63 0.6 0.65 0.56 0.6 rs1007602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5347 0.5961 0.4295 0.6508 0.3375 0.4768 0.6445 0.5727 0.3319 0.5808 0.6020 0.4928 0.68 0.3051 0.4736 0.6274 0.5645 hom 2118.57 68 5 131602166 . T C 2118.57 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.73;MQ0=0;QD=31.16;VQSLOD=9.3742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2152,163,0 5 131663062 131663062 T C exonic SLC22A4 nonsynonymous SNV SLC22A4:NM_003059:exon5:c.T917C:p.I306T 0.55 0.77 0.68 0.35 0.59 0.34 0.5767 0.7433 0.6920 0.3759 0.5005 0.6133 0.5342 0.3808 0.66 0.74 0.62 0.66 0.58 rs272893 COSM3760910 1(large_intestine) . . . . . . . . . . . 0.046 0.405 D 0.002 0.090 B 0.012 0.149 B 0.506 0.119 N 1 0.090 P 1.075 0.273 L -0.75 0.733 T -3.38 0.667 D 0.034 0.014 -0.982 0.344 T 0.000 0.000 T . . . 1.357 0.227 12.57 0.890 0.178 0.339 0.247 N c -0.867 -0.887 0.999 0.384 0.651 0.465 0 -1.15 0.092 2.299 0.430 1.061 0.807 0.030 0.202 0.670 0.303 4.280 0.102 Major facilitator superfamily domain ENSG00000131435.8|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000072682.14|ENSG00000233006.2|ENSG00000237714.1|ENSG00000072682.14|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000131435.8|ENSG00000197375.8|ENSG00000233006.2|ENSG00000237714.1|ENSG00000233006.2|ENSG00000197375.8|ENSG00000072682.14|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000197375.8|ENSG00000233006.2|ENSG00000197208.5|ENSG00000237714.1|ENSG00000233006.2|ENSG00000072682.14|ENSG00000233006.2|ENSG00000233006.2|ENSG00000233006.2|ENSG00000197375.8|ENSG00000131435.8|ENSG00000233006.2|ENSG00000197375.8|ENSG00000233006.2|ENSG00000131435.8|ENSG00000233006.2|ENSG00000237714.1|ENSG00000233006.2|ENSG00000197208.5|ENSG00000072682.14|ENSG00000234290.2|ENSG00000197375.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5778 0.7472 0.6915 0.6014 0.3737 0.4952 0.6194 0.5924 0.3833 0.6142 0.7474 0.6782 0.6324 0.3620 0.4920 0.5925 0.5531 hom 1821.07 64 5 131663062 . T C 1821.07 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9970;MQ=58.26;MQ0=0;QD=28.45;VQSLOD=8.2874;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1854,141,0 5 131670546 131670546 C G exonic SLC22A4 synonymous SNV SLC22A4:NM_003059:exon7:c.C1182G:p.T394T 0.52 0.68 0.67 0.33 0.58 0.33 0.5613 0.6582 0.6870 0.3611 0.4926 0.6046 0.5308 0.3708 0.62 0.66 0.61 0.6 0.59 rs272879 COSM3760911 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5644 0.6588 0.6846 0.5977 0.3584 0.4885 0.6110 0.5835 0.3732 0.5808 0.6523 0.6779 0.6291 0.3406 0.4845 0.5832 0.5490 hom 7608.12 220 5 131670546 . C G 7608.12 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5081;MQ=59.69;MQ0=0;QD=34.58;VQSLOD=7.2846;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:7607,602,0 5 131676320 131676320 C T exonic SLC22A4 nonsynonymous SNV SLC22A4:NM_003059:exon9:c.C1507T:p.L503F 0.13 0.021 0.24 0.001 0.39 0.088 0.2913 0.0731 0.1975 0.0021 0.3147 0.4199 0.3238 0.1150 0.31 0.083 0.42 0.098 0.42 rs1050152 COSM3736366 1(kidney);1(skin);1(upper_aerodigestive_tract) Benign SLC22A4_POLYMORPHISM RCV000006106.2 . . . . . . . . 0.1 0.305 T 0.006 0.126 B 0.046 0.233 B 0.502 0.119 N 0.994 0.235 P 1.885 0.502 L -0.85 0.744 T -1.83 0.429 N 0.084 0.078 -0.980 0.350 T 0.000 0.000 T . . . 0.616 0.153 8.265 0.980 0.369 0.067 0.126 N c -1.069 -1.129 0.970 0.291 0.554 0.246 0 -4.62 0.031 -0.226 0.091 0.129 0.215 0.000 0.063 0.990 0.544 6.023 0.187 Major facilitator superfamily domain ENSG00000131435.8|ENSG00000233006.2|ENSG00000197375.8|ENSG00000072682.14|ENSG00000237714.1|ENSG00000197375.8|ENSG00000072682.14|ENSG00000233006.2|ENSG00000233006.2|ENSG00000197375.8|ENSG00000197375.8|ENSG00000197375.8|ENSG00000237714.1|ENSG00000197375.8|ENSG00000072682.14|ENSG00000233006.2|ENSG00000233006.2|ENSG00000197375.8|ENSG00000113525.5|ENSG00000233006.2|ENSG00000197208.5|ENSG00000237714.1|ENSG00000197375.8|ENSG00000072682.14|ENSG00000233006.2|ENSG00000197375.8|ENSG00000131435.8|ENSG00000197375.8|ENSG00000197375.8|ENSG00000072682.14|ENSG00000237714.1|ENSG00000131435.8|ENSG00000224431.1|ENSG00000197375.8|ENSG00000072682.14|ENSG00000234290.2|ENSG00000233006.2|ENSG00000197375.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.2942 0.0707 0.2142 0.4139 0.0012 0.3111 0.4261 0.3403 0.1196 0.2654 0.0744 0.2601 0.3940 0.0006 0.3003 0.3916 0.3145 hom 7726.49 237 5 131676320 . C T 7726.49 Mask AC=2;AF=1.00;AN=2;DP=237;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1966;MQ=58.97;MQ0=0;QD=32.60;VQSLOD=9.5844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:7726,608,0 5 131995964 131995964 A G exonic IL13 nonsynonymous SNV IL13:NM_002188:exon4:c.A431G:p.Q144R 0.73 0.81 0.62 0.64 0.79 0.73 0.7336 0.8158 0.4420 0.6723 0.6196 0.7953 0.7434 0.7133 0.81 0.83 0.81 0.69 0.82 rs20541 . . other|other Asthma\x2c_susceptibility_to|Allergic_rhinitis\x2c_susceptibility_to RCV000015785.2|RCV000015786.2 . . Psoriasis 1.27 . 19169254 rs20541 5E-15 1.0 0.010 T . . . . . . 0.000 0.004 N 1 0.090 P . . . 1.05 0.400 T 0.02 0.068 N 0.023 0.006 -1.055 0.131 T 0.000 0.000 T . . . -3.418 0.000 0.001 0.185 0.006 0.027 0.073 N c -2.147 -2.373 1.000 0.747 0.428 0.059 0 -7.23 0.013 -2.731 0.009 -2.605 0.002 0.000 0.063 0.000 0.016 4.657 0.119 Four-helical cytokine\x2c core|Four-helical cytokine-like\x2c core ENSG00000169194.5 Testis 0.7198 0.8147 0.4701 0.7770 0.6764 0.6219 0.8046 0.7364 0.7108 0.7489 0.8222 0.5477 0.7351 0.6650 0.6095 0.7615 0.7138 hom 2421.02 80 5 131995964 . A G 2421.02 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;QD=30.26;VQSLOD=8.9469;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2454,196,0 5 132098242 132098242 A G exonic SEPT8 synonymous SNV SEPT8:NM_001098811:exon5:c.T630C:p.N210N,SEPT8:NM_001098812:exon5:c.T630C:p.N210N,SEPT8:NM_001098813:exon5:c.T450C:p.N150N,SEPT8:NM_001300798:exon5:c.T624C:p.N208N,SEPT8:NM_001300799:exon5:c.T624C:p.N208N,SEPT8:NM_015146:exon5:c.T630C:p.N210N 1. 1. 1. 1. 1. 1. 0.9950 0.9984 0.9979 0.9980 0.9905 0.9932 1 0.9984 0.99 1. 0.99 1. 0.98 rs30510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9986 0.9987 0.9901 0.9979 0.9921 0.9939 0.9953 0.9984 0.9957 0.9990 1 0.9901 0.9988 0.9937 0.9937 0.9980 hom 5519.46 177 5 132098242 . A G 5519.46 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5119;MQ=59.34;MQ0=0;QD=31.18;VQSLOD=6.4323;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5518,457,0 5 132150948 132150948 T G exonic SOWAHA nonsynonymous SNV SOWAHA:NM_175873:exon1:c.T1635G:p.F545L 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs40470 COSM4159413 1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1693.05 54 5 132150948 . T G 1693.05 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5592;MQ=59.31;MQ0=0;QD=31.35;VQSLOD=9.6651;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1726,132,0 5 132198100 132198100 C T exonic GDF9 synonymous SNV GDF9:NM_005260:exon2:c.G546A:p.E182E,GDF9:NM_001288824:exon3:c.G282A:p.E94E,GDF9:NM_001288825:exon4:c.G282A:p.E94E,GDF9:NM_001288826:exon4:c.G282A:p.E94E,GDF9:NM_001288827:exon4:c.G282A:p.E94E,GDF9:NM_001288828:exon4:c.G282A:p.E94E 0.13 0.2 0.11 0.15 0.16 0.031 0.1426 0.2045 0.0826 0.1516 0.1565 0.1619 0.1634 0.0565 0.19 0.21 0.17 0.14 0.2 rs10491279 COSM4159414 1(thyroid) Benign not_specified RCV000125220.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1413 0.2047 0.0874 0.1596 0.1458 0.1483 0.1672 0.1518 0.0590 0.1730 0.2083 0.1134 0.1954 0.1410 0.1504 0.1659 0.1456 het 1820.86 149 5 132198100 . C T 1820.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.765;DP=149;Dels=0.00;FS=8.674;HRun=1;HaplotypeScore=1.7987;MQ=58.87;MQ0=0;MQRankSum=-0.860;QD=12.22;ReadPosRankSum=-0.127;VQSLOD=4.7702;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,72:149:99:1851,0,2026 5 132198199 132198199 G A exonic GDF9 synonymous SNV GDF9:NM_005260:exon2:c.C447T:p.T149T,GDF9:NM_001288824:exon3:c.C183T:p.T61T,GDF9:NM_001288825:exon4:c.C183T:p.T61T,GDF9:NM_001288826:exon4:c.C183T:p.T61T,GDF9:NM_001288827:exon4:c.C183T:p.T61T,GDF9:NM_001288828:exon4:c.C183T:p.T61T 0.46 0.33 0.49 0.29 0.6 0.62 0.5276 0.3611 0.4333 0.2819 0.4784 0.5791 0.5298 0.6343 0.51 0.36 0.58 0.4 0.52 rs254286 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5237 0.3592 0.4415 0.5942 0.2794 0.4901 0.5797 0.5284 0.6303 0.4812 0.3551 0.4880 0.5 0.2732 0.4831 0.5734 0.5204 het 865.72 70 5 132198199 . G A 865.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.281;DP=70;Dels=0.00;FS=1.171;HRun=0;HaplotypeScore=3.4826;MQ=59.67;MQ0=0;MQRankSum=0.694;QD=12.37;ReadPosRankSum=-0.362;VQSLOD=6.3697;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,30:70:99:896,0,1166 5 132432903 132432903 G A exonic HSPA4 synonymous SNV HSPA4:NM_002154:exon15:c.G1854A:p.K618K . . . . . . 0.0003 0 0.0004 0 0 0.0004 0 0 . . . . . rs752759610 COSM4585397 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0 0.0002 0 0 0 0.0004 0.0004 0 6.457e-05 0 0 0 0 0 0.0001 0 het 4184.34 232 5 132432903 . G A 4184.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.902;DP=232;Dels=0.00;FS=7.502;HRun=2;HaplotypeScore=5.6189;MQ=58.65;MQ0=0;MQRankSum=0.307;QD=18.04;ReadPosRankSum=-0.048;VQSLOD=2.2775;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:110,122:232:99:3573,0,3012 5 132535046 132535046 G A exonic FSTL4 nonsynonymous SNV FSTL4:NM_015082:exon16:c.C2270T:p.T757M 0.27 0.062 0.4 0.39 0.23 0.34 0.2913 0.0816 0.5345 0.4543 0.4038 0.2382 0.3139 0.3366 0.17 0.087 0.22 0.22 0.22 rs3749817 COSM3760914 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.129 0.268 T 0.014 0.305 B 0.006 0.184 B 0.893 0.073 N 1 0.090 P 1.52 0.385 L 1.99 0.217 T -0.82 0.225 N 0.025 0.007 -0.930 0.441 T 0.000 0.000 T . . . -1.027 0.031 0.014 0.823 0.136 0.066 0.125 N c -1.707 -1.793 0.603 0.217 0.615 0.372 0 -6.31 0.018 0.338 0.195 -2.365 0.003 0.000 0.063 0.001 0.043 2.647 0.046 WD40/YVTN repeat-like-containing domain . . 0.3061 0.0816 0.5044 0.3094 0.4514 0.4074 0.2268 0.2868 0.3364 0.2424 0.0855 0.4368 0.2881 0.4653 0.4014 0.2567 0.3088 het 1024.21 79 5 132535046 . G A 1024.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.878;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7883;MQ=59.23;MQ0=0;MQRankSum=-0.936;QD=12.96;ReadPosRankSum=0.103;VQSLOD=6.3877;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,40:79:99:1054,0,956 5 132652281 132652281 C T exonic FSTL4 nonsynonymous SNV FSTL4:NM_015082:exon5:c.G473A:p.R158H 0.035 0.0083 0.056 0.001 0.095 0.027 0.0772 0.0187 0.0502 0.0009 0.0933 0.1083 0.0859 0.0403 0.079 0.02 0.11 0.043 0.11 rs17683306 COSM3760915 1(large_intestine) . . . . . . . . . . . 0.198 0.205 T 0.006 0.126 B 0.001 0.040 B 0.172 0.173 N 1 0.090 N 2.28 0.651 M 0.25 0.595 T -0.5 0.158 N 0.046 0.026 -1.115 0.027 T 0.004 0.013 T . . . 1.615 0.256 13.93 0.984 0.405 0.070 0.129 N c -0.831 -0.870 1.000 0.747 0.658 0.488 0 1.44 0.215 -0.251 0.088 -0.321 0.076 0.001 0.137 0.032 0.149 8.193 0.304 . . . 0.0784 0.0180 0.0530 0.1398 0.0010 0.0969 0.1065 0.0942 0.0417 0.0701 0.0165 0.0706 0.1490 0.0012 0.1011 0.0990 0.0825 het 1368.92 105 5 132652281 . C T 1368.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.596;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9469;MQ=59.56;MQ0=0;MQRankSum=1.505;QD=13.04;ReadPosRankSum=1.261;VQSLOD=5.1937;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,50:105:99:1399,0,1344 5 134223593 134223593 A G exonic TXNDC15 synonymous SNV TXNDC15:NM_001350735:exon2:c.A108G:p.K36K,TXNDC15:NM_024715:exon2:c.A312G:p.K104K 0.16 0.04 0.14 0.27 0.15 0.21 0.1490 0.0529 0.1789 0.2494 0.2091 0.1283 0.1531 0.1956 0.11 0.052 0.14 0.087 0.049 rs3733897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1511 0.0530 0.1675 0.0789 0.2467 0.2031 0.1295 0.1468 0.1927 0.1263 0.0558 0.1695 0.0894 0.2292 0.1981 0.1350 0.1690 het 1174.78 106 5 134223593 . A G 1174.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.049;DP=106;Dels=0.00;FS=0.740;HRun=1;HaplotypeScore=0.7340;MQ=59.43;MQ0=0;MQRankSum=1.029;QD=11.08;ReadPosRankSum=-0.099;VQSLOD=6.7395;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,46:106:99:1205,0,1689 5 134343661 134343661 C T exonic CATSPER3 synonymous SNV CATSPER3:NM_178019:exon4:c.C507T:p.A169A 0.27 0.15 0.29 0.26 0.43 0.28 0.3606 0.1785 0.2370 0.2577 0.4149 0.4301 0.4360 0.3093 0.34 0.18 0.42 0.3 0.51 rs10044000 COSM149912 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3593 0.1797 0.2500 0.5504 0.2517 0.4215 0.4145 0.3927 0.3154 0.3239 0.1784 0.2703 0.5430 0.2568 0.4273 0.3863 0.3865 het 2373.91 172 5 134343661 . C T 2373.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.340;DP=172;Dels=0.00;FS=1.319;HRun=0;HaplotypeScore=0.9665;MQ=59.08;MQ0=0;MQRankSum=0.845;QD=13.80;ReadPosRankSum=0.242;VQSLOD=6.7226;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,87:172:99:2404,0,2231 5 134343799 134343799 A G exonic CATSPER3 synonymous SNV CATSPER3:NM_178019:exon4:c.A645G:p.A215A 0.51 0.64 0.41 0.56 0.32 0.54 0.3879 0.6010 0.4745 0.5384 0.3106 0.2971 0.3278 0.5151 0.39 0.58 0.3 0.51 0.28 rs177252 COSM4003285 1(haematopoietic_and_lymphoid_tissue);1(liver);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3854 0.5993 0.4591 0.2859 0.5426 0.3040 0.3011 0.3498 0.5137 0.4092 0.6009 0.4248 0.2682 0.5186 0.3011 0.3163 0.3602 het 1804.60 137 5 134343799 . A G 1804.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.326;DP=137;Dels=0.00;FS=5.289;HRun=1;HaplotypeScore=7.2722;MQ=59.05;MQ0=0;MQRankSum=-0.394;QD=13.17;ReadPosRankSum=0.041;VQSLOD=4.7150;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,68:137:99:1835,0,1932 5 134364518 134364518 C G exonic PITX1 nonsynonymous SNV PITX1:NM_002653:exon3:c.G896C:p.G299A 0.32 0.13 0.33 0.48 0.27 0.46 0.3001 0.1702 0.3651 0.4793 0.2771 0.2615 0.2633 0.3928 0.22 0.16 0.25 0.16 0.17 rs479632 COSM3760918 2(large_intestine) Benign not_specified RCV000327204.1 MedGen CN169374 . . . . . . 0.753 0.035 T 0.147 0.262 B 0.06 0.253 B 0.001 0.406 N 0.000 0.511 P 0.045 0.081 N -2.45 0.889 D 0.98 0.015 N 0.089 0.086 -1.046 0.156 T 0.000 0.000 T . . . 0.655 0.156 8.529 0.943 0.241 0.994 0.961 D c -0.282 -0.071 1.000 0.747 0.598 0.340 0 4.32 0.507 7.542 0.809 0.856 0.374 1.000 0.715 0.997 0.653 15.794 0.781 . ENSG00000069011.11 Testis 0.2919 0.1497 0.3458 0.2446 0.4691 0.2584 0.2532 0.2757 0.3824 0.2462 0.1632 0.3160 0.2383 0.4352 0.2521 0.2667 0.2823 het 440.23 31 5 134364518 . C G 440.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.443;DP=31;Dels=0.00;FS=7.732;HRun=2;HaplotypeScore=1.8914;MQ=58.64;MQ0=0;MQRankSum=1.482;QD=14.20;ReadPosRankSum=-0.731;VQSLOD=4.4270;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:470,0,424 5 134670741 134670741 C T exonic H2AFY synonymous SNV H2AFY:NM_001040158:exon9:c.G1041A:p.T347T,H2AFY:NM_004893:exon9:c.G1041A:p.T347T,H2AFY:NM_138609:exon9:c.G1035A:p.T345T,H2AFY:NM_138610:exon9:c.G1044A:p.T348T 0.036 0.0068 0.019 0.052 0.046 0.063 0.0485 0.0129 0.0218 0.0479 0.0469 0.0529 0.0485 0.0729 0.041 0.014 0.055 0.033 0.066 rs3733728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0466 0.0125 0.0191 0.0745 0.0473 0.0477 0.0497 0.0452 0.0725 0.0402 0.0143 0.0155 0.0894 0.0519 0.0473 0.0527 0.0398 het 2199.95 175 5 134670741 . C T 2199.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.808;DP=175;DS;Dels=0.00;FS=1.218;HRun=0;HaplotypeScore=0.8321;MQ=59.52;MQ0=0;MQRankSum=0.187;QD=12.57;ReadPosRankSum=-0.061;VQSLOD=6.9284;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,82:175:99:2230,0,2430 5 134670765 134670765 A G exonic H2AFY synonymous SNV H2AFY:NM_001040158:exon9:c.T1017C:p.S339S,H2AFY:NM_004893:exon9:c.T1017C:p.S339S,H2AFY:NM_138609:exon9:c.T1011C:p.S337S,H2AFY:NM_138610:exon9:c.T1020C:p.S340S 0.12 0.28 0.056 0.056 0.063 0.078 0.0857 0.2688 0.0399 0.0504 0.0569 0.0728 0.0672 0.0855 0.14 0.27 0.073 0.15 0.066 rs3210047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0778 0.2742 0.0389 0.0827 0.0493 0.0567 0.0692 0.0724 0.0846 0.1269 0.2719 0.0382 0.1060 0.0549 0.0578 0.0755 0.0735 het 1961.54 155 5 134670765 . A G 1961.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.778;DP=155;DS;Dels=0.00;FS=3.962;HRun=1;HaplotypeScore=6.4141;MQ=59.07;MQ0=0;MQRankSum=0.563;QD=12.66;ReadPosRankSum=-0.797;VQSLOD=4.9600;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,69:155:99:1992,0,2414 5 134782414 134782414 G T exonic DCANP1 synonymous SNV DCANP1:NM_130848:exon1:c.C385A:p.R129R 0.65 0.96 0.55 0.56 0.51 0.54 0.5193 0.8926 0.5307 0.5686 0.3890 0.4648 0.4868 0.5244 0.6 0.88 0.46 0.72 . rs12518053 COSM3760920 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5092 0.9000 0.5239 0.4702 0.5769 0.3837 0.4664 0.5159 0.5187 0.5700 0.8915 0.4928 0.4801 0.6126 0.3980 0.4331 0.4386 het 4454.25 250 5 134782414 . G T 4454.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.965;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5464;MQ=59.10;MQ0=0;MQRankSum=-0.562;QD=17.82;ReadPosRankSum=-0.546;VQSLOD=5.4685;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,137:250:99:3797,0,2954 5 134782450 134782450 T A exonic DCANP1 stopgain DCANP1:NM_130848:exon1:c.A349T:p.R117X 0.65 0.93 0.55 0.56 0.51 0.54 0.5177 0.8732 0.5303 0.5687 0.3892 0.4649 0.4857 0.5245 0.6 0.86 0.46 0.71 . rs12520799 COSM3760921 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 1 0.588 P . . . . . . . . . . . . . . . . . . . . 5.432 0.737 26.1 0.948 0.249 0.000 0.003 N c -0.384 -0.860 1.000 0.517 0.616 0.392 0 -5.91 0.021 -0.208 0.093 0.125 0.212 0.000 0.063 0.280 0.233 0.601 0.007 . ENSG00000249639.1 Testis 0.5080 0.8817 0.5233 0.4702 0.5769 0.3837 0.4663 0.5157 0.5188 0.5649 0.8734 0.4964 0.4801 0.6115 0.3982 0.4328 0.4398 het 4125.26 236 5 134782450 . T A 4125.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.911;DP=236;DS;Dels=0.00;FS=1.071;HRun=0;HaplotypeScore=2.5564;MQ=59.42;MQ0=0;MQRankSum=-0.335;QD=17.48;ReadPosRankSum=0.388;VQSLOD=5.8476;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:114,122:236:99:3499,0,3273 5 134782510 134782510 T C exonic DCANP1 nonsynonymous SNV DCANP1:NM_130848:exon1:c.A289G:p.N97D 0.65 0.93 0.55 0.56 0.51 0.54 0.5180 0.8731 0.5307 0.5707 0.3891 0.4652 0.4868 0.5247 0.6 0.86 0.46 0.71 . rs12520809 COSM3760922 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 1.24 0.367 T 2.5 0.002 N 0.013 0.002 -1.037 0.183 T 0.000 0.000 T . . . -1.286 0.022 0.005 0.572 0.056 0.001 0.007 N c -1.628 -1.699 0.999 0.371 0.497 0.185 0 -1.38 0.085 -1.318 0.028 -0.900 0.026 0.000 0.063 0.000 0.016 6.732 0.224 . ENSG00000249639.1 Testis 0.5082 0.8817 0.5238 0.4703 0.5785 0.3837 0.4663 0.5159 0.5190 0.5650 0.8728 0.4952 0.4801 0.6149 0.3978 0.4329 0.4408 het 1739.14 135 5 134782510 . T C 1739.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.637;DP=135;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7279;MQ=58.44;MQ0=0;MQRankSum=-1.957;QD=12.88;ReadPosRankSum=1.622;VQSLOD=3.8946;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,73:135:99:1769,0,1704 5 134782576 134782576 T G exonic DCANP1 nonsynonymous SNV DCANP1:NM_130848:exon1:c.A223C:p.T75P 0.65 0.93 0.55 0.56 0.52 0.54 0.5178 0.8724 0.5295 0.5678 0.3889 0.4661 0.4856 0.5244 0.6 0.86 0.46 0.71 . rs1031844 COSM3760923 1(skin);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 1.17 0.379 T 6.25 0.000 N 0.057 0.040 -1.054 0.134 T 0.000 0.000 T . . . -0.455 0.058 0.284 0.576 0.057 0.000 0.002 N c -1.187 -1.197 0.998 0.366 0.497 0.185 0 2.27 0.274 -0.195 0.095 -0.279 0.085 0.000 0.063 0.001 0.043 3.820 0.083 . ENSG00000249639.1 Testis 0.5078 0.8811 0.5232 0.4698 0.5771 0.3835 0.4662 0.5158 0.5185 0.5653 0.8729 0.4988 0.4833 0.6123 0.3978 0.4334 0.4398 het 679.10 48 5 134782576 . T G 679.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.299;DP=48;Dels=0.00;FS=6.149;HRun=2;HaplotypeScore=0.0000;MQ=58.34;MQ0=0;MQRankSum=0.052;QD=14.15;ReadPosRankSum=-0.258;VQSLOD=5.0975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,24:48:99:709,0,633 5 135178124 135178124 T C exonic SLC25A48 synonymous SNV SLC25A48:NM_001349336:exon2:c.T66C:p.V22V,SLC25A48:NM_145282:exon2:c.T66C:p.V22V 0.74 0.73 0.66 0.71 0.83 0.76 0.7707 0.7476 0.5383 0.7069 0.7920 0.8172 0.7789 0.7836 0.81 0.78 0.82 0.84 0.8 rs2304075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7640 0.7454 0.5605 0.8185 0.7018 0.7921 0.8203 0.7880 0.7833 0.7720 0.7418 0.6265 0.8311 0.7105 0.7947 0.7978 0.7735 hom 6850.98 238 5 135178124 . T C 6850.98 Mask AC=2;AF=1.00;AN=2;DP=238;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2981;MQ=58.39;MQ0=0;QD=28.79;VQSLOD=6.4472;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,238:238:99:6849,569,0 5 135178142 135178142 A G exonic SLC25A48 synonymous SNV SLC25A48:NM_001349336:exon2:c.A84G:p.T28T,SLC25A48:NM_145282:exon2:c.A84G:p.T28T 0.14 0.21 0.12 0.0099 0.21 0.11 0.1714 0.1816 0.1077 0.0082 0.2069 0.2091 0.19 0.1275 0.2 0.17 0.21 0.18 0.18 rs6596270 COSM4407304;COSM4407302;COSM4407303 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1707 0.1789 0.1108 0.2489 0.0072 0.2101 0.2087 0.2008 0.1263 0.1928 0.1878 0.1337 0.2583 0.0093 0.2123 0.2127 0.1984 het 1743.46 197 5 135178142 . A G 1743.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.711;DP=197;DS;Dels=0.00;FS=5.557;HRun=1;HaplotypeScore=7.4713;MQ=58.05;MQ0=0;MQRankSum=0.444;QD=8.85;ReadPosRankSum=0.640;VQSLOD=3.9410;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:130,67:197:99:1773,0,3639 5 135207382 135207382 C T exonic SLC25A48 synonymous SNV SLC25A48:NM_001349336:exon5:c.C654T:p.A218A,SLC25A48:NM_001349335:exon8:c.C492T:p.A164A 0.57 0.27 0.68 0.8 0.62 0.62 0.6070 0.3048 0.7493 0.7981 0.6131 0.5977 0.6216 0.6195 0.51 0.32 0.6 0.5 0.41 rs2304080 COSM4407311;COSM4407312 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6186 0.3003 0.7392 0.5172 0.8000 0.6144 0.6070 0.6228 0.6188 0.5284 0.3029 0.7146 0.4967 0.8007 0.6148 0.5950 0.6112 het 541.54 45 5 135207382 . C T 541.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.606;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=57.39;MQ0=0;MQRankSum=0.024;QD=12.03;ReadPosRankSum=-1.967;VQSLOD=4.8090;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,19:45:99:572,0,656 5 135276202 135276204 GTT - exonic FBXL21 unknown UNKNOWN 0.73 0.64 0.76 0.78 0.71 0.81 0.7381 0.6604 0.7856 0.7942 0.7592 0.7170 0.7244 0.7988 0.69 0.66 0.71 0.022 . rs568134250 COSM5713121;COSM5713120 5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7268 0.6457 0.7665 0.7207 0.7870 0.7534 0.6995 0.7085 0.7898 0.7002 0.6631 0.7398 0.7267 0.8023 0.7420 0.6970 0.7198 het 435.64 25 5 135276201 . AGTT A 435.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.984;DP=25;FS=4.678;HRun=0;HaplotypeScore=105.8224;MQ=56.20;MQ0=0;MQRankSum=0.411;QD=17.43;ReadPosRankSum=-0.849;set=variant2 GT:AD:DP:GQ:PL 0/1:14,11:25:99:475,0,840 5 135276314 135276314 C T exonic FBXL21 unknown UNKNOWN 0.81 0.92 0.8 0.78 0.72 0.82 0.7658 0.8896 0.8038 0.7937 0.7634 0.7293 0.7388 0.8005 0.78 0.89 0.73 0.74 . rs40986 COSM4997915;COSM4997914 1(pancreas) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 0.000 0.810 P -2.295 0.001 N . . . . . . 0.377 0.437 . . . . . . . . . 2.029 0.305 16.40 0.790 0.121 0.208 0.210 N n 1.462 0.076 1.000 0.747 0.075 0.013 0 5.13 0.696 5.950 0.698 0.154 0.240 1.000 0.715 0.996 0.625 11.325 0.485 Leucine-rich repeat domain\x2c L domain-like . . 0.7601 0.8904 0.7979 0.7472 0.7919 0.7586 0.7201 0.7368 0.7977 0.7758 0.8957 0.7662 0.7517 0.8043 0.7448 0.7136 0.7377 het 658.96 62 5 135276314 . C T 658.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.024;DP=62;Dels=0.00;FS=5.351;HRun=0;HaplotypeScore=0.0000;MQ=58.12;MQ0=0;MQRankSum=0.799;QD=10.63;ReadPosRankSum=-0.290;VQSLOD=5.1154;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,28:62:99:689,0,908 5 135276814 135276814 G A exonic FBXL21 unknown UNKNOWN 0.25 0.2 0.23 0.26 0.26 0.32 0.2586 0.2163 0.1663 0.2384 0.3127 0.2649 0.2650 0.3113 0.24 0.21 0.26 0.22 . rs2066913 COSM4407328;COSM4407329 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2556 0.2199 0.1717 0.2502 0.2379 0.3179 0.2618 0.2611 0.3076 0.2505 0.2293 0.1854 0.2616 0.2432 0.3024 0.2532 0.2771 het 2068.98 133 5 135276814 . G A 2068.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.532;DP=133;Dels=0.00;FS=0.658;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=0.858;QD=15.56;ReadPosRankSum=-0.609;VQSLOD=5.6503;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,74:133:99:2099,0,1495 5 135276847 135276847 T C exonic FBXL21 unknown UNKNOWN 0.73 0.64 0.76 0.78 0.71 0.81 0.7350 0.6533 0.7837 0.7954 0.7616 0.7133 0.7211 0.7956 0.7 0.67 0.71 0.66 . rs31547 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7342 0.6497 0.7767 0.7247 0.7937 0.7573 0.7045 0.7139 0.7938 0.7022 0.6646 0.7399 0.7285 0.8042 0.7418 0.6999 0.7224 het 1534.77 130 5 135276847 . T C 1534.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.079;DP=130;Dels=0.00;FS=1.419;HRun=0;HaplotypeScore=1.9874;MQ=58.93;MQ0=0;MQRankSum=1.660;QD=11.81;ReadPosRankSum=0.887;VQSLOD=6.3450;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,64:130:99:1565,0,1698 5 135287029 135287029 T C exonic LECT2 nonsynonymous SNV LECT2:NM_002302:exon3:c.A172G:p.I58V 0.64 0.55 0.7 0.65 0.64 0.7 0.6445 0.5671 0.7097 0.6450 0.6707 0.6346 0.6344 0.6777 0.62 0.58 0.64 0.58 0.67 rs31517 COSM1130934 1(haematopoietic_and_lymphoid_tissue);1(liver);4(prostate);1(large_intestine) . . . . . . . . . . . 0.526 0.071 T 0.0 0.026 B 0.001 0.040 B 0.002 0.384 N 1.000 0.588 P -1.125 0.009 N 0.61 0.535 T -0.11 0.110 N 0.036 0.045 -0.904 0.476 T 0.000 0.000 T . . . 0.072 0.101 3.311 0.624 0.068 0.014 0.048 N c -1.519 -1.340 1.000 0.404 0.487 0.133 0 3.33 0.371 0.496 0.220 -1.633 0.008 0.239 0.245 0.138 0.202 12.606 0.557 Peptidase M23 . . 0.6450 0.5672 0.7020 0.5885 0.6445 0.6663 0.6320 0.6248 0.6749 0.6143 0.5819 0.6699 0.5833 0.6473 0.6476 0.6179 0.6367 het 2131.28 158 5 135287029 . T C 2131.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.247;DP=158;Dels=0.00;FS=1.253;HRun=0;HaplotypeScore=4.5206;MQ=59.76;MQ0=0;MQRankSum=-0.424;QD=13.49;ReadPosRankSum=0.187;VQSLOD=5.6728;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,86:158:99:2161,0,1793 5 135288632 135288632 A G exonic LECT2 nonsynonymous SNV LECT2:NM_002302:exon2:c.T71C:p.I24T 0.013 0.0015 0.019 0.001 0.044 0.0061 0.0298 0.0076 0.0216 0.0001 0.0448 0.0420 0.0242 0.0100 0.033 0.012 0.044 . 0.066 rs62623707 COSM1179695 1(prostate) . . . . . . . . . . . 0.003 0.682 D 0.682 0.395 P 0.261 0.378 B 0.021 0.270 N 1 0.810 D 2.38 0.688 M 3.0 0.092 T -3.46 0.714 D 0.123 0.299 -1.110 0.031 T 0.009 0.031 T . . . 3.152 0.438 22.6 0.998 0.848 0.804 0.397 D c 0.184 0.214 1.000 0.747 0.487 0.133 0 5.96 0.967 5.281 0.652 1.199 0.960 0.770 0.291 0.790 0.333 12.837 0.570 . . . 0.0299 0.0068 0.0228 0.0151 0.0001 0.0430 0.0438 0.0339 0.0100 0.0288 0.0094 0.0191 0.0232 0 0.0352 0.0421 0.0346 het 3071.89 214 5 135288632 . A G 3071.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.558;DP=214;DS;Dels=0.00;FS=0.570;HRun=0;HaplotypeScore=5.2219;MQ=59.41;MQ0=0;MQRankSum=0.724;QD=14.35;ReadPosRankSum=0.321;VQSLOD=4.7828;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,108:214:99:3102,0,2655 5 135382989 135382989 G C exonic TGFBI synonymous SNV TGFBI:NM_000358:exon6:c.G651C:p.L217L 0.32 0.027 0.45 0.37 0.47 0.4 0.4270 0.0864 0.4661 0.3710 0.4982 0.4712 0.4799 0.4210 0.34 0.095 0.47 0.18 . rs1442 COSM5425253;COSM4003288 4(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Corneal_Dystrophy\x2c_Dominant RCV000253242.1|RCV000327951.1 MedGen|MedGen CN169374|CN239349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4356 0.0836 0.4674 0.4195 0.3783 0.4904 0.4762 0.4514 0.4237 0.3583 0.0891 0.4582 0.3709 0.3807 0.4891 0.4709 0.4418 het 3215.07 210 5 135382989 . G C 3215.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.221;DP=210;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4759;MQ=59.29;MQ0=0;MQRankSum=-1.309;QD=15.31;ReadPosRankSum=-1.413;VQSLOD=4.5440;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:100,110:210:99:3245,0,3079 5 135513085 135513085 - C exonic SMAD5 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 1. . rs55765823 COSM5713122;COSM4603076 23(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2139.82 46 5 135513085 . T TC 2139.82 Mask AC=2;AF=1.00;AN=2;DP=46;FS=0.000;HRun=0;HaplotypeScore=103.1643;MQ=59.77;MQ0=0;QD=46.52;set=variant2 GT:AD:DP:GQ:PL 1/1:0,46:46:99:2182,138,0 5 137028029 137028029 T C exonic KLHL3 synonymous SNV KLHL3:NM_001257195:exon3:c.A225G:p.A75A,KLHL3:NM_001257194:exon5:c.A375G:p.A125A,KLHL3:NM_017415:exon5:c.A471G:p.A157A 0.83 0.82 0.75 0.98 0.76 0.81 0.7926 0.8066 0.8161 0.9906 0.7576 0.7602 0.7827 0.8086 0.78 0.8 0.77 0.85 0.79 rs2905608 COSM3760929 1(liver);1(thyroid);1(large_intestine) Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_Type_I\x2c_Dominant RCV000246490.1|RCV000402327.1 MedGen|MedGen CN169374|CN239441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7919 0.8038 0.8105 0.7302 0.9912 0.7571 0.7622 0.7643 0.8112 0.7830 0.8015 0.8007 0.6987 0.9938 0.7510 0.7596 0.7546 het 590.78 50 5 137028029 . T C 590.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.110;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.370;QD=11.82;ReadPosRankSum=-0.270;VQSLOD=11.5553;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:621,0,719 5 137206560 137206560 A C exonic MYOT nonsynonymous SNV MYOT:NM_006790:exon2:c.A220C:p.K74Q . . . . . . 0.9959 0.9557 0.9983 1 1 0.9998 0.9978 0.9999 0.99 0.96 1. 0.98 1. rs6890689 . . Benign not_specified RCV000153527.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9546 0.9976 0.9992 1 1 0.9999 0.9985 0.9999 0.9861 0.9516 0.9988 0.9967 1 1 0.9999 0.9949 hom 4875.70 142 5 137206560 . A C 4875.70 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.4304;MQ=58.82;MQ0=0;QD=34.34;VQSLOD=9.0800;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4875,379,0 5 137244517 137244517 G A exonic PKD2L2 nonsynonymous SNV PKD2L2:NM_001258448:exon8:c.G1144A:p.V382I,PKD2L2:NM_001300921:exon8:c.G1210A:p.V404I,PKD2L2:NM_014386:exon8:c.G1210A:p.V404I 0.79 0.59 0.78 0.97 0.76 0.9 0.7942 0.6161 0.8173 0.9671 0.7682 0.7753 0.7868 0.8798 0.73 0.63 0.78 0.71 0.76 rs1880458 COSM4407136;COSM4407137 1(liver) . . . . . . . . . . . 0.185 0.215 T 0.0 0.026 B 0.001 0.040 B 0.108 0.195 N 1.000 0.810 P -0.55 0.024 N -0.48 0.703 T -0.6 0.183 N 0.023 0.006 -1.003 0.290 T 0.000 0.000 T . . . 1.684 0.263 14.32 0.956 0.268 0.833 0.421 D c -0.635 -0.412 0.641 0.220 0.487 0.133 0 3.47 0.387 4.516 0.600 -0.165 0.106 1.000 0.715 0.842 0.351 3.773 0.081 Polycystin cation channel\x2c PKD1/PKD2 . . 0.7952 0.6097 0.8112 0.7404 0.9694 0.7678 0.7770 0.7723 0.8808 0.7327 0.5999 0.7914 0.7633 0.9636 0.7715 0.7693 0.7705 het 897.55 75 5 137244517 . G A 897.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.729;DP=75;Dels=0.00;FS=12.268;HRun=0;HaplotypeScore=0.9947;MQ=58.69;MQ0=0;MQRankSum=1.694;QD=11.97;ReadPosRankSum=0.218;VQSLOD=4.3462;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,35:75:99:928,0,1118 5 137259179 137259179 T C exonic PKD2L2 nonsynonymous SNV PKD2L2:NM_001258449:exon8:c.T1217C:p.L406P,PKD2L2:NM_001258448:exon10:c.T1454C:p.L485P,PKD2L2:NM_001300921:exon10:c.T1520C:p.L507P,PKD2L2:NM_014386:exon10:c.T1520C:p.L507P 0.98 0.92 0.99 1. 1. 1. 0.9943 0.9354 0.9958 1 1 0.9999 0.9955 0.9999 0.98 0.93 1. 0.97 1. rs12187140 . . . . . . . . . . . . . 0.151 0.245 T 0.0 0.026 B 0.0 0.013 B 0.002 0.365 N 0.376 0.327 P -2.695 0.000 N 0.41 0.722 T 3.03 0.002 N 0.064 0.185 -0.949 0.411 T 0.000 0.000 T . . . 1.505 0.243 13.34 0.669 0.080 0.003 0.017 N c -1.018 -0.766 0.608 0.218 0.554 0.283 0 4.53 0.548 1.453 0.346 0.069 0.176 0.007 0.175 0.431 0.259 4.204 0.099 Polycystin cation channel\x2c PKD1/PKD2 . . 0.9952 0.9333 0.9960 1 1 1 1.0000 0.9967 0.9999 0.9796 0.9286 0.9976 1 1 1 0.9997 0.9959 hom 3215.74 115 5 137259179 . T C 3215.74 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;QD=27.96;VQSLOD=8.4444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3249,238,0 5 137347498 137347498 G A exonic FAM13B synonymous SNV FAM13B:NM_001101801:exon4:c.C153T:p.S51S,FAM13B:NM_001101800:exon5:c.C507T:p.S169S,FAM13B:NM_016603:exon5:c.C507T:p.S169S 0.99 0.95 1. 1. 1. 1. 0.9968 0.9655 0.9979 1 1 1.0000 0.9967 1 0.99 0.97 1. 0.99 0.93 rs10064910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9975 0.9653 0.9980 1 1 1 1.0000 0.9978 1 0.9887 0.9604 0.9988 1 1 1 0.9998 0.9990 hom 1410.50 44 5 137347498 . G A 1410.50 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;QD=32.06;VQSLOD=8.1166;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1444,111,0 5 137426447 137426447 G A exonic WNT8A synonymous SNV WNT8A:NM_001300938:exon5:c.G795A:p.A265A,WNT8A:NM_001300939:exon5:c.G795A:p.A265A,WNT8A:NM_058244:exon6:c.G741A:p.A247A 0.47 0.32 0.43 0.58 0.49 0.56 0.4815 0.3324 0.4343 0.5947 0.4779 0.4919 0.4944 0.5022 0.43 0.33 0.47 0.36 0.43 rs6596422 COSM3760930 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4789 0.3283 0.4387 0.5366 0.5900 0.4789 0.4824 0.4936 0.5012 0.4332 0.3197 0.4593 0.5464 0.6139 0.4771 0.4625 0.4847 het 1163.18 81 5 137426447 . G A 1163.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.808;DP=81;Dels=0.00;FS=6.628;HRun=0;HaplotypeScore=0.8941;MQ=59.77;MQ0=0;MQRankSum=1.130;QD=14.36;ReadPosRankSum=-0.714;VQSLOD=5.2331;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,42:81:99:1193,0,967 5 137476416 137476416 T C exonic BRD8 nonsynonymous SNV BRD8:NM_139199:exon26:c.A3593G:p.Q1198R 0.98 0.92 0.99 1. 1. 1. 0.9944 0.9404 0.9956 1 1 0.9999 0.9956 0.9999 0.98 0.94 1. 0.98 1. rs412051 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.748 0.097 N 1.000 0.090 P -0.55 0.024 N 2.22 0.182 T 0.22 0.047 N 0.024 0.123 -0.965 0.383 T 0.000 0.000 T . . . -0.056 0.088 2.083 0.666 0.079 0.209 0.210 N c -0.960 -0.711 0.007 0.114 0.554 0.246 0 1.75 0.236 1.828 0.385 -0.326 0.075 0.910 0.314 0.991 0.552 11.401 0.489 Bromodomain . . 0.9954 0.9374 0.9961 1 1 1 0.9999 0.9965 0.9999 0.9810 0.9335 0.9976 1 1 1 0.9997 0.9980 hom 8310.69 249 5 137476416 . T C 8310.69 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8224;MQ=58.73;MQ0=0;QD=33.38;VQSLOD=7.4543;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,248:249:99:8309,665,0 5 137500665 137500665 G A exonic BRD8 nonsynonymous SNV BRD8:NM_001300962:exon11:c.C1346T:p.T449M,BRD8:NM_001164326:exon12:c.C1478T:p.T493M,BRD8:NM_001300961:exon12:c.C1421T:p.T474M,BRD8:NM_139199:exon12:c.C1469T:p.T490M,BRD8:NM_001300966:exon13:c.C1151T:p.T384M,BRD8:NM_006696:exon13:c.C1688T:p.T563M 0.12 0.058 0.098 0.016 0.17 0.25 0.1520 0.0769 0.0871 0.0111 0.1760 0.1746 0.1399 0.2183 0.14 0.082 0.17 0.076 0.16 rs11750814 COSM5618340;COSM5618339 1(breast) . . . . . . . . . . . 0.037 0.531 D 0.971 0.637 D 0.305 0.446 B 0.128 0.187 N 0.009 0.414 P 0 0.065 N 1.88 0.317 T -1.2 0.305 N 0.094 0.193 -1.052 0.140 T 0.000 0.000 T . . . 4.076 0.547 23.7 0.998 0.901 0.985 0.830 D c 0.329 0.454 1.000 0.747 0.707 0.730 0 5.55 0.832 4.980 0.633 0.998 0.613 0.997 0.399 0.974 0.471 18.684 0.915 . ENSG00000253404.1 Heart_Atrial_Appendage 0.1486 0.0717 0.0860 0.1018 0.0117 0.1817 0.1790 0.1372 0.2146 0.1373 0.0753 0.0895 0.1267 0.0124 0.1768 0.1789 0.1633 het 3988.40 249 5 137500665 . G A 3988.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.723;DP=249;DS;Dels=0.00;FS=2.154;HRun=0;HaplotypeScore=4.8563;MQ=59.08;MQ0=0;MQRankSum=2.815;QD=16.02;ReadPosRankSum=-0.474;VQSLOD=4.2344;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:123,126:249:99:3376,0,3022 5 137522945 137522945 C T exonic KIF20A nonsynonymous SNV KIF20A:NM_005733:exon19:c.C2516T:p.P839L 0.0054 . 0.011 . 0.017 0.002 0.0109 0.0020 0.0103 0 0.0050 0.0164 0.0132 0.0025 0.011 0.0025 0.016 0.011 0.033 rs3172747 . . . . . . . . . . . . . 0.004 0.682 D 0.524 0.899 P 0.058 0.850 B 0.001 0.432 D 1 0.810 D 1.735 0.450 L -0.46 0.707 T -1.23 0.312 N 0.252 0.308 -0.190 0.779 T 0.339 0.705 T . . . 6.937 0.934 33 0.999 0.965 0.988 0.872 D c 0.422 0.476 1.000 0.747 0.672 0.522 0 5.53 0.825 4.767 0.617 0.935 0.490 1.000 0.715 0.999 0.750 19.841 0.967 . . . 0.0102 0.0023 0.0089 0.0184 0 0.0050 0.0156 0.0128 0.0023 0.0088 0.0038 0.0095 0.0033 0 0.0054 0.0135 0.0102 het 583.20 81 5 137522945 . C T 583.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.258;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9894;MQ=59.25;MQ0=0;MQRankSum=1.084;QD=7.20;ReadPosRankSum=-0.026;VQSLOD=5.8911;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,26:81:99:613,0,1613 5 137708434 137708434 C T exonic KDM3B synonymous SNV KDM3B:NM_016604:exon2:c.C264T:p.I88I 0.67 0.56 0.67 0.85 0.59 0.74 0.6376 0.5732 0.7431 0.8529 0.5386 0.5907 0.6553 0.7196 0.58 0.57 0.58 0.7 0.64 rs4835678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6381 0.5654 0.7318 0.6252 0.8539 0.5380 0.5857 0.6253 0.7204 0.5873 0.5556 0.7237 0.6225 0.8572 0.5458 0.5802 0.55 het 1825.83 133 5 137708434 . C T 1825.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.764;DP=133;Dels=0.00;FS=4.254;HRun=1;HaplotypeScore=3.5123;MQ=59.72;MQ0=0;MQRankSum=-0.115;QD=13.73;ReadPosRankSum=-0.214;VQSLOD=5.7276;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,72:133:99:1856,0,1434 5 137717213 137717213 G A exonic KDM3B synonymous SNV KDM3B:NM_016604:exon6:c.G714A:p.E238E 0.29 0.11 0.42 0.27 0.34 0.42 0.3497 0.1562 0.4506 0.2845 0.2952 0.3519 0.3469 0.4478 0.3 0.16 0.36 0.29 0.39 rs10073922 COSM149918 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3544 0.1493 0.4334 0.3043 0.2821 0.3004 0.3597 0.3377 0.4497 0.2882 0.1523 0.3962 0.2947 0.2704 0.3093 0.3568 0.3088 het 1693.66 119 5 137717213 . G A 1693.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.568;DP=119;Dels=0.00;FS=1.497;HRun=1;HaplotypeScore=2.5184;MQ=59.30;MQ0=0;MQRankSum=-1.326;QD=14.23;ReadPosRankSum=-0.455;VQSLOD=6.0722;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,68:119:99:1724,0,1234 5 137717265 137717265 G A exonic KDM3B nonsynonymous SNV KDM3B:NM_016604:exon6:c.G766A:p.A256T 0.98 0.92 1. 1. 1. 1. 0.9951 0.9464 0.9974 1 1 1.0000 0.9967 1 0.98 0.95 1. 0.98 0.97 rs6865472 . . . . . . . . . . . . . 0.773 0.033 T 0.0 0.026 B 0.0 0.013 B 0.785 0.094 N 1 0.090 P 0.69 0.170 N 0.15 0.608 T 0.4 0.035 N 0.027 0.179 -1.016 0.249 T 0.000 0.000 T . . . -0.332 0.066 0.561 0.315 0.018 0.006 0.027 N c -1.446 -1.472 0.866 0.253 0.707 0.730 0 -2.75 0.055 -0.678 0.053 -0.114 0.115 0.000 0.063 0.029 0.146 5.506 0.160 . . . 0.9960 0.9433 0.9970 1 1 1 1.0000 0.9971 1.0000 0.9828 0.9396 0.9988 1 1 1 0.9998 0.9980 hom 2998.27 103 5 137717265 . G A 2998.27 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=59.05;MQ0=0;QD=29.11;VQSLOD=8.4489;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3031,247,0 5 137733891 137733891 A G exonic KDM3B synonymous SNV KDM3B:NM_016604:exon10:c.A2856G:p.V952V 0.11 0.0091 0.1 0.023 0.17 0.29 0.1563 0.0382 0.0905 0.0124 0.1745 0.1807 0.1369 0.2487 0.13 0.044 0.18 0.087 0.17 rs17294563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1533 0.0329 0.0896 0.1191 0.0129 0.1766 0.1858 0.1419 0.2401 0.1287 0.0348 0.0931 0.1424 0.0123 0.1719 0.1851 0.1673 het 2071 184 5 137733891 . A G 2071 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.101;DP=184;Dels=0.00;FS=1.190;HRun=0;HaplotypeScore=3.2437;MQ=59.47;MQ0=0;MQRankSum=1.927;QD=11.26;ReadPosRankSum=-0.610;VQSLOD=5.9970;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:105,79:184:99:2101,0,2587 5 137754695 137754695 T C exonic KDM3B synonymous SNV KDM3B:NM_016604:exon14:c.T3489C:p.G1163G 0.68 0.57 0.67 0.85 0.59 0.74 0.6389 0.5830 0.7433 0.8566 0.5383 0.5909 0.6564 0.7200 0.58 0.58 0.58 0.7 0.63 rs7726234 COSM448654 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6391 0.5759 0.7319 0.6252 0.8578 0.5380 0.5858 0.6251 0.7206 0.5891 0.5631 0.7237 0.6225 0.8617 0.5458 0.5795 0.5482 het 1708.30 145 5 137754695 . T C 1708.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.760;DP=145;Dels=0.00;FS=1.361;HRun=0;HaplotypeScore=6.0763;MQ=59.45;MQ0=0;MQRankSum=0.705;QD=11.78;ReadPosRankSum=0.672;VQSLOD=5.0770;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,71:145:99:1738,0,2055 5 137892170 137892170 G A exonic HSPA9 synonymous SNV HSPA9:NM_004134:exon16:c.C1933T:p.L645L 0.65 0.82 0.38 0.79 0.44 0.67 0.4886 0.7500 0.3719 0.7866 0.3593 0.4053 0.4670 0.6394 0.51 0.74 0.4 0.64 0.53 rs10117 COSM3760932 1(breast);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4754 0.7533 0.3824 0.4384 0.7840 0.3529 0.4014 0.4439 0.6405 0.5068 0.7452 0.4187 0.42 0.7909 0.3481 0.3871 0.4141 het 2974.43 229 5 137892170 . G A 2974.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.242;DP=229;DS;Dels=0.00;FS=0.494;HRun=1;HaplotypeScore=2.7019;MQ=58.43;MQ0=0;MQRankSum=2.415;QD=12.99;ReadPosRankSum=0.902;VQSLOD=5.2987;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,121:229:99:3004,0,2996 5 137902339 137902339 T C exonic HSPA9 synonymous SNV HSPA9:NM_004134:exon9:c.A948G:p.K316K 0.42 0.35 0.25 0.76 0.25 0.47 0.3072 0.3169 0.2788 0.7588 0.2135 0.2279 0.2985 0.4433 0.25 0.32 0.22 0.35 0.29 rs1042665 COSM3760933 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3026 0.3180 0.2768 0.2618 0.7574 0.2078 0.2237 0.2765 0.4410 0.2743 0.3172 0.2871 0.2649 0.7636 0.2017 0.2149 0.2449 het 2859.30 239 5 137902339 . T C 2859.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.036;DP=239;Dels=0.00;FS=2.403;HRun=0;HaplotypeScore=4.3215;MQ=58.78;MQ0=0;MQRankSum=-0.391;QD=11.96;ReadPosRankSum=-0.697;VQSLOD=5.5922;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,112:239:99:2889,0,3080 5 138266546 138266546 G A exonic CTNNA1 synonymous SNV CTNNA1:NM_001324010:exon7:c.G771A:p.S257S,CTNNA1:NM_001324012:exon8:c.G867A:p.S289S,CTNNA1:NM_001290312:exon10:c.G1110A:p.S370S,CTNNA1:NM_001323987:exon10:c.G1110A:p.S370S,CTNNA1:NM_001323994:exon10:c.G1110A:p.S370S,CTNNA1:NM_001324001:exon10:c.G1110A:p.S370S,CTNNA1:NM_001324002:exon10:c.G1110A:p.S370S,CTNNA1:NM_001324004:exon10:c.G1110A:p.S370S,CTNNA1:NM_001323989:exon11:c.G1110A:p.S370S,CTNNA1:NM_001323991:exon11:c.G1110A:p.S370S,CTNNA1:NM_001324000:exon11:c.G1110A:p.S370S,CTNNA1:NM_001324008:exon11:c.G771A:p.S257S,CTNNA1:NM_001324009:exon11:c.G771A:p.S257S,CTNNA1:NM_001324013:exon11:c.G867A:p.S289S,CTNNA1:NM_001323990:exon12:c.G1110A:p.S370S,CTNNA1:NM_001324003:exon12:c.G1110A:p.S370S,CTNNA1:NM_001324011:exon12:c.G1017A:p.S339S,CTNNA1:NM_001323988:exon13:c.G1110A:p.S370S,CTNNA1:NM_001323992:exon13:c.G1110A:p.S370S,CTNNA1:NM_001323993:exon13:c.G1110A:p.S370S,CTNNA1:NM_001323995:exon13:c.G1110A:p.S370S,CTNNA1:NM_001323996:exon13:c.G1110A:p.S370S,CTNNA1:NM_001323997:exon13:c.G1110A:p.S370S,CTNNA1:NM_001323998:exon13:c.G1110A:p.S370S,CTNNA1:NM_001323999:exon13:c.G1110A:p.S370S,CTNNA1:NM_001324005:exon13:c.G1110A:p.S370S,CTNNA1:NM_001324007:exon13:c.G771A:p.S257S,CTNNA1:NM_001324006:exon14:c.G771A:p.S257S,CTNNA1:NM_001290309:exon15:c.G1911A:p.S637S,CTNNA1:NM_001323986:exon15:c.G2127A:p.S709S,CTNNA1:NM_001290307:exon16:c.G2220A:p.S740S,CTNNA1:NM_001290310:exon16:c.G1851A:p.S617S,CTNNA1:NM_001323983:exon16:c.G2220A:p.S740S,CTNNA1:NM_001323985:exon16:c.G2220A:p.S740S,CTNNA1:NM_001903:exon16:c.G2220A:p.S740S,CTNNA1:NM_001323982:exon17:c.G2220A:p.S740S,CTNNA1:NM_001323984:exon17:c.G2220A:p.S740S 0.25 0.43 0.27 0.0079 0.27 0.22 0.2796 0.4038 0.2894 0.0027 0.2997 0.2974 0.2792 0.2598 0.33 0.41 0.3 0.32 0.24 rs1059110 COSM3760934 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2750 0.4070 0.2728 0.3236 0.0030 0.2966 0.2954 0.2802 0.2581 0.3223 0.4084 0.2704 0.3179 0.0006 0.2952 0.3176 0.3 het 1760.57 160 5 138266546 . G A 1760.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.289;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=59.02;MQ0=0;MQRankSum=-1.489;QD=11.00;ReadPosRankSum=0.161;VQSLOD=5.9462;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,68:160:99:1791,0,2309 5 138456815 138456815 T C exonic SIL1 synonymous SNV SIL1:NM_022464:exon3:c.A153G:p.T51T,SIL1:NM_001037633:exon4:c.A153G:p.T51T 0.43 0.69 0.44 0.18 0.41 0.34 0.4354 0.6709 0.4148 0.1686 0.4527 0.4464 0.4283 0.3906 0.51 0.68 0.43 0.51 0.37 rs3088052 COSM5654037 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Marinesco-Sjögren_syndrome RCV000082151.9|RCV000270107.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0024814:248800:ORPHA559:80734006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4276 0.6720 0.4008 0.4815 0.1673 0.4587 0.4422 0.4351 0.3876 0.4987 0.6669 0.4103 0.4333 0.1627 0.4554 0.4560 0.4591 het 3006.72 250 5 138456815 . T C 3006.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.826;DP=250;DS;Dels=0.00;FS=1.727;HRun=1;HaplotypeScore=4.9381;MQ=59.27;MQ0=0;MQRankSum=-1.039;QD=12.03;ReadPosRankSum=-0.510;VQSLOD=5.2186;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:3037,0,4000 5 138713959 138713959 A C exonic SLC23A1 nonsynonymous SNV SLC23A1:NM_005847:exon11:c.T1261G:p.S421A,SLC23A1:NM_152685:exon11:c.T1273G:p.S425A 1. 1. 1. 1. 1. 1. 0.9997 0.9962 0.9999 1 0.9998 1.0000 1 1 1. 1. 1. 1. 0.8 rs6596474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9964 0.9999 1 1 1.0000 1.0000 1 1 0.9992 0.9974 1 1 1 1 1 0.9980 hom 425.93 16 5 138713959 . A C 425.93 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.62;VQSLOD=13.3512;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:36.11:459,36,0 5 138773090 138773090 A G exonic DNAJC18 synonymous SNV DNAJC18:NM_152686:exon2:c.T198C:p.Y66Y 0.41 0.12 0.61 0.31 0.65 0.51 0.5985 0.2107 0.6743 0.3002 0.7103 0.6794 0.5817 0.5748 0.53 0.23 0.68 0.4 0.57 rs10900864 COSM4003297 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6040 0.2045 0.6512 0.5379 0.2991 0.7048 0.6884 0.6091 0.5652 0.5397 0.2231 0.6325 0.5166 0.2775 0.6896 0.7032 0.6772 hom 4485.88 142 5 138773090 . A G 4485.88 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.25;MQ0=0;QD=31.59;VQSLOD=9.3859;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4486,340,0 5 138857919 138857919 T C exonic TMEM173 nonsynonymous SNV TMEM173:NM_001301738:exon5:c.A695G:p.H232R,TMEM173:NM_198282:exon6:c.A695G:p.H232R 0.87 0.89 0.85 0.86 0.85 0.9 0.8760 0.8769 0.8891 0.8797 0.8679 0.8665 0.8756 0.9057 0.87 0.87 0.87 0.88 0.86 rs1131769 . . Benign not_specified RCV000455115.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 1.000 0.182 P -2.84 0.000 N 2.72 0.120 T 4.47 0.000 N 0.111 0.120 -0.987 0.335 T 0.000 0.000 T . . . -0.711 0.044 0.068 0.223 0.009 0.097 0.152 N c -1.050 -0.747 1.000 0.747 0.706 0.609 0 4.92 0.640 2.214 0.423 0.069 0.176 0.990 0.367 0.261 0.230 10.127 0.416 . . . 0.8763 0.8837 0.8874 0.8553 0.8806 0.8650 0.8669 0.8749 0.9068 0.8739 0.8779 0.8831 0.85 0.8861 0.8588 0.8725 0.8940 hom 4912.16 154 5 138857919 . T C 4912.16 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5845;MQ=59.70;MQ0=0;QD=31.90;VQSLOD=8.7352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:4911,409,0 5 138861146 138861146 C G exonic TMEM173 synonymous SNV TMEM173:NM_001301738:exon2:c.G144C:p.V48V,TMEM173:NM_198282:exon3:c.G144C:p.V48V 0.43 0.079 0.51 0.38 0.69 0.64 0.6220 0.1716 0.5036 0.3732 0.7108 0.7203 0.6648 0.6762 0.54 0.18 0.72 0.39 0.66 rs7447927 COSM4003298 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000455772.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6201 0.1632 0.4911 0.6371 0.3687 0.7046 0.7250 0.6373 0.6780 0.5463 0.1735 0.5096 0.6490 0.3657 0.6939 0.7388 0.6969 hom 2887.94 91 5 138861146 . C G 2887.94 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=31.74;VQSLOD=8.9345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2921,232,0 5 139060486 139060486 G A exonic CXXC5 synonymous SNV CXXC5:NM_001317200:exon2:c.G378A:p.A126A,CXXC5:NM_001317201:exon2:c.G378A:p.A126A,CXXC5:NM_001317202:exon2:c.G378A:p.A126A,CXXC5:NM_001317205:exon2:c.G378A:p.A126A,CXXC5:NM_001317207:exon2:c.G378A:p.A126A,CXXC5:NM_001317209:exon2:c.G378A:p.A126A,CXXC5:NM_016463:exon2:c.G378A:p.A126A,CXXC5:NM_001317199:exon3:c.G378A:p.A126A,CXXC5:NM_001317203:exon3:c.G378A:p.A126A,CXXC5:NM_001317204:exon3:c.G378A:p.A126A,CXXC5:NM_001317208:exon3:c.G378A:p.A126A,CXXC5:NM_001317210:exon3:c.G378A:p.A126A,CXXC5:NM_001317211:exon3:c.G378A:p.A126A,CXXC5:NM_001317206:exon4:c.G378A:p.A126A 0.19 0.5 0.063 0.059 0.052 0.14 0.0811 0.4324 0.0324 0.0685 0.0176 0.0382 0.0528 0.1138 . . . 0.26 0.025 rs356445 COSM448684 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0761 0.4403 0.0380 0.0534 0.0700 0.0207 0.0388 0.0588 0.1146 0.1494 0.4319 0.0549 0.0464 0.0642 0.0226 0.0374 0.0540 het 2494.27 193 5 139060486 . G A 2494.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.719;DP=193;Dels=0.00;FS=5.162;HRun=0;HaplotypeScore=9.2176;MQ=59.13;MQ0=0;MQRankSum=-0.485;QD=12.92;ReadPosRankSum=-1.451;VQSLOD=3.9506;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,94:193:99:2524,0,2559 5 139422232 139422232 G A exonic NRG2 synonymous SNV NRG2:NM_001184935:exon1:c.C423T:p.A141A,NRG2:NM_004883:exon1:c.C423T:p.A141A,NRG2:NM_013981:exon1:c.C423T:p.A141A,NRG2:NM_013982:exon1:c.C423T:p.A141A,NRG2:NM_013983:exon1:c.C423T:p.A141A 0.027 0.027 0.04 . 0.062 0.0082 0.0724 0.0609 0.0448 0 0.1213 0.1019 0.0845 0.0230 0.052 0.035 0.06 . 0.057 rs144634106 COSM3760944;COSM3760945;COSM3760943 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0473 0.0388 0.0295 0.0799 6.566e-05 0.0643 0.0636 0.0632 0.0186 0.0506 0.0384 0.0372 0.0733 0 0.0689 0.0596 0.0442 het 170.72 10 5 139422232 . G A 170.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;MQRankSum=0.365;QD=17.07;ReadPosRankSum=0.365;VQSLOD=5.8326;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,6:10:99:201,0,115 5 139745154 139745154 T C exonic SLC4A9 synonymous SNV SLC4A9:NM_001258426:exon12:c.T1668C:p.I556I,SLC4A9:NM_001258427:exon12:c.T1701C:p.I567I,SLC4A9:NM_001258428:exon12:c.T1773C:p.I591I,SLC4A9:NM_031467:exon12:c.T1701C:p.I567I 0.71 0.57 0.75 0.84 0.72 0.74 0.7155 0.6027 0.7496 0.8475 0.6454 0.6998 0.7440 0.7783 0.68 0.62 0.71 0.74 . rs6860077 COSM4159445;COSM4159443;COSM4159444 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7056 0.5859 0.7300 0.6542 0.8429 0.6312 0.6952 0.6787 0.7741 0.6619 0.5919 0.7416 0.6433 0.8484 0.6308 0.6854 0.6660 het 329.23 38 5 139745154 . T C 329.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.759;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6281;MQ=58.02;MQ0=0;MQRankSum=-0.074;QD=8.66;ReadPosRankSum=0.192;VQSLOD=5.1782;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,16:38:99:359,0,560 5 139931628 139931628 - GT exonic SRA1 frameshift insertion SRA1:NM_001035235:exon3:c.328_329insAC:p.V110Dfs*1 0.43 0.22 0.51 0.56 0.48 0.48 0.1964 0.1190 0.2080 0.2774 0.1623 0.2079 0.2013 0.1670 . . . . 0.033 rs3085220 COSM1486339 1(haematopoietic_and_lymphoid_tissue);1(liver);2(thyroid);2(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0868 0.0528 0.0677 0.0565 0.1166 0.0670 0.1050 0.0721 0.0750 0.3724 0.2542 0.4963 0.3985 0.5501 0.3607 0.4189 0.3884 het 1000.32 82 5 139931628 . A AGT 1000.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.756;DP=82;FS=4.851;HRun=0;HaplotypeScore=334.8073;MQ=56.05;MQ0=0;MQRankSum=-1.172;QD=12.20;ReadPosRankSum=-0.398;set=variant2 GT:AD:DP:GQ:PL 0/1:62,20:82:99:1039,0,2160 5 139931629 139931629 - G exonic SRA1 frameshift insertion SRA1:NM_001035235:exon3:c.327_328insC:p.V110Rfs*25 0.43 0.22 0.51 0.56 0.48 0.48 0.2634 0.1428 0.3183 0.3649 0.1920 0.2789 0.2920 0.2402 . . . . . rs5871740 COSM5713123 1(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0979 0.0527 0.0637 0.0669 0.1199 0.0804 0.1232 0.0811 0.0923 0.3746 0.2538 0.4988 0.4344 0.5501 0.3609 0.4236 0.3918 het 733.21 80 5 139931629 . C CG 733.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.434;DP=80;FS=4.958;HRun=0;HaplotypeScore=311.3443;MQ=55.64;MQ0=0;MQRankSum=-1.406;QD=9.17;ReadPosRankSum=-1.143;set=variant2 GT:AD:DP:GQ:PL 0/1:60,20:80:99:772,0,1807 5 139936760 139936760 G T exonic SRA1 stopgain SRA1:NM_001253764:exon1:c.C278A:p.S93X 0.63 0.29 0.72 0.83 0.72 0.74 0.6880 0.3616 0.7269 0.8415 0.6338 0.6921 0.7119 0.7729 0.59 0.37 0.7 0.61 0.61 rs250426 COSM4005852 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6892 0.347 0.7193 0.6527 0.8386 0.6319 0.6949 0.6659 0.7756 0.5919 0.3480 0.7344 0.6443 0.8448 0.6313 0.6841 0.6555 het 1284.68 113 5 139936760 . G T 1284.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.048;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2156;MQ=56.97;MQ0=0;MQRankSum=1.432;QD=11.37;ReadPosRankSum=0.662;VQSLOD=4.4096;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,52:113:99:1315,0,1509 5 139940233 139940233 G A exonic APBB3 synonymous SNV APBB3:NM_006051:exon10:c.C1044T:p.H348H,APBB3:NM_133172:exon10:c.C1038T:p.H346H,APBB3:NM_133173:exon10:c.C1023T:p.H341H,APBB3:NM_133174:exon10:c.C1017T:p.H339H 0.63 0.29 0.72 0.83 0.71 0.74 0.6841 0.3569 0.7267 0.8416 0.6332 0.6900 0.71 0.7723 0.59 0.37 0.7 0.61 0.64 rs250431 COSM4407059 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6881 0.3478 0.7184 0.6530 0.8385 0.6317 0.6936 0.6645 0.7757 0.5910 0.3488 0.7309 0.6391 0.8439 0.6306 0.6825 0.6530 het 914.92 65 5 139940233 . G A 914.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.815;DP=65;Dels=0.00;FS=3.704;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.309;QD=14.08;ReadPosRankSum=-0.939;VQSLOD=6.2722;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,34:65:99:945,0,845 5 139941228 139941228 A G exonic APBB3 nonsynonymous SNV APBB3:NM_006051:exon7:c.T712C:p.C238R,APBB3:NM_133172:exon7:c.T706C:p.C236R,APBB3:NM_133173:exon7:c.T691C:p.C231R,APBB3:NM_133174:exon7:c.T685C:p.C229R 0.91 0.95 0.88 0.9 0.88 0.89 0.8695 0.9372 0.8428 0.8885 0.7945 0.8577 0.8855 0.9124 0.89 0.94 0.86 0.94 0.81 rs250430 COSM4407338 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.134 0.355 P -2.435 0.001 N 2.05 0.207 T 7.17 0.000 N 0.062 0.146 -0.962 0.389 T 0.000 0.000 T . . . 0.586 0.150 8.061 0.861 0.158 0.101 0.155 N c -0.522 -0.167 1.000 0.747 0.706 0.609 0 5.99 0.973 6.735 0.744 0.076 0.183 1.000 0.715 0.991 0.552 10.287 0.426 PH domain-like|PTB/PI domain ENSG00000131503.16 Colon_Sigmoid 0.8650 0.9386 0.8418 0.8385 0.8872 0.7957 0.8613 0.8590 0.9145 0.8745 0.9402 0.8592 0.8146 0.8949 0.8017 0.8549 0.8469 hom 6770.40 201 5 139941228 . A G 6770.40 Mask AC=2;AF=1.00;AN=2;DP=201;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9133;MQ=59.35;MQ0=0;QD=33.68;VQSLOD=6.0990;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,201:201:99:6769,557,0 5 140011468 140011468 C G exonic CD14 synonymous SNV CD14:NM_000591:exon2:c.G1101C:p.L367L,CD14:NM_001040021:exon3:c.G1101C:p.L367L,CD14:NM_001174104:exon3:c.G1101C:p.L367L,CD14:NM_001174105:exon3:c.G1101C:p.L367L 0.064 0.065 0.072 0.024 0.11 0.05 0.0980 0.0768 0.0600 0.0175 0.1242 0.1221 0.1055 0.0602 0.1 0.078 0.12 0.043 0.082 rs4914 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0931 0.0728 0.0657 0.1485 0.0186 0.1238 0.1173 0.1078 0.0478 0.1020 0.0774 0.0718 0.1457 0.0229 0.1274 0.1194 0.1079 het 1139.26 112 5 140011468 . C G 1139.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.084;DP=112;Dels=0.00;FS=7.697;HRun=1;HaplotypeScore=1.7853;MQ=59.12;MQ0=0;MQRankSum=0.334;QD=10.17;ReadPosRankSum=-0.127;VQSLOD=4.6865;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,46:112:99:1169,0,1809 5 140048267 140048267 T C exonic WDR55 nonsynonymous SNV WDR55:NM_017706:exon4:c.T451C:p.C151R 0.95 0.83 0.99 1. 1. 1. 0.9862 0.8538 0.9916 1 1 0.9992 0.9956 1 0.95 0.85 1. 0.92 1. rs2530245 . . . . . . . . . . . . . 0.403 0.104 T 0.0 0.026 B 0.0 0.013 B 1.000 0.080 U 0.829 0.288 P -2.625 0.000 N 1.81 0.252 T 5.29 0.000 N 0.019 0.238 -0.995 0.312 T 0.000 0.000 T . . . 0.165 0.110 4.304 0.603 0.063 0.247 0.223 N c -1.132 -0.877 1.000 0.439 0.707 0.730 0 3.5 0.390 1.943 0.396 -0.374 0.066 0.989 0.365 0.660 0.300 5.495 0.160 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.9889 0.8482 0.9912 0.9998 1 1 0.9993 0.9943 0.9997 0.9585 0.8559 0.9893 1 1 1 0.9994 0.9898 hom 4848.86 166 5 140048267 . T C 4848.86 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4994;MQ=59.36;MQ0=0;QD=29.21;VQSLOD=8.1730;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:4848,394,0 5 140057535 140057535 G A exonic HARS synonymous SNV HARS:NM_001289093:exon3:c.C246T:p.C82C,HARS:NM_001289092:exon4:c.C366T:p.C122C,HARS:NM_001258040:exon5:c.C468T:p.C156C,HARS:NM_001258042:exon5:c.C408T:p.C136C,HARS:NM_001258041:exon6:c.C528T:p.C176C,HARS:NM_001289094:exon6:c.C501T:p.C167C,HARS:NM_002109:exon6:c.C588T:p.C196C 0.057 0.048 0.11 0.002 0.06 0.084 0.0788 0.0610 0.1353 0.0014 0.0866 0.0745 0.0960 0.1047 0.068 0.057 0.073 0.076 0.033 rs2230361 . . Benign|Likely benign not_specified|Retinitis_pigmentosa-deafness_syndrome RCV000214979.1|RCV000335245.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0271097:500004:ORPHA886:57838006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0800 0.0614 0.1290 0.0328 0.0016 0.0866 0.0761 0.0742 0.1050 0.0795 0.0676 0.1041 0.0497 0.0025 0.0888 0.0913 0.0878 het 1448.92 101 5 140057535 . G A 1448.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.524;DP=101;Dels=0.00;FS=2.629;HRun=0;HaplotypeScore=1.8936;MQ=58.89;MQ0=0;MQRankSum=0.126;QD=14.35;ReadPosRankSum=-1.483;VQSLOD=5.7644;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,55:101:99:1479,0,1182 5 140167463 140167463 C T exonic PCDHA1 synonymous SNV PCDHA1:NM_018900:exon1:c.C1588T:p.L530L,PCDHA1:NM_031410:exon1:c.C1588T:p.L530L,PCDHA1:NM_031411:exon1:c.C1588T:p.L530L 0.52 0.48 0.59 0.51 0.54 0.52 0.5242 0.4860 0.5604 0.5181 0.4609 0.5265 0.5498 0.5404 0.52 0.5 0.53 0.5 0.57 rs3733710 COSM448711;COSM448712 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5244 0.4863 0.5534 0.5233 0.5275 0.4512 0.5298 0.5198 0.5445 0.5092 0.4849 0.5624 0.5464 0.5149 0.4665 0.5299 0.4969 hom 6611.80 213 5 140167463 . C T 6611.80 Mask AC=2;AF=1.00;AN=2;DP=213;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8941;MQ=55.15;MQ0=3;QD=31.04;VQSLOD=3.2457;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,209:213:99:6583,553,0 5 140168070 140168070 A G exonic PCDHA1 nonsynonymous SNV PCDHA1:NM_018900:exon1:c.A2195G:p.Y732C,PCDHA1:NM_031410:exon1:c.A2195G:p.Y732C 0.53 0.48 0.59 0.53 0.54 0.52 0.5253 0.4848 0.5614 0.5322 0.46 0.5270 0.5519 0.5401 0.52 0.5 0.53 0.5 0.55 rs2240696 COSM1433691;COSM1433690 2(thyroid);4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.111 0.194 N 1 0.090 P -2.01 0.002 N 3.03 0.089 T 3.79 0.001 N 0.057 0.058 -0.983 0.344 T 0.000 0.000 T . . . -0.685 0.046 0.078 0.059 0.000 0.001 0.009 N c -1.582 -1.444 0.112 0.167 0.554 0.283 0 2.24 0.271 0.775 0.262 0.070 0.177 0.081 0.222 0.001 0.043 3.794 0.082 . ENSG00000204963.4|ENSG00000113141.11|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000239389.3|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000250120.2|ENSG00000250120.2|ENSG00000113141.11|ENSG00000113141.11|ENSG00000213523.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113119.8|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204967.6|ENSG00000146007.6|ENSG00000204963.4|ENSG00000113141.11|ENSG00000120314.14|ENSG00000249158.2|ENSG00000204967.6|ENSG00000204961.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113073.10|ENSG00000176087.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.5254 0.4854 0.5544 0.5233 0.5404 0.4510 0.5299 0.5212 0.5444 0.5109 0.4862 0.5613 0.5464 0.5318 0.4665 0.5304 0.5020 hom 4887.11 142 5 140168070 . A G 4887.11 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4440;MQ=59.71;MQ0=0;QD=34.42;VQSLOD=8.1445;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4887,388,0 5 140168151 140168151 G T exonic PCDHA1 nonsynonymous SNV PCDHA1:NM_018900:exon1:c.G2276T:p.C759F,PCDHA1:NM_031410:exon1:c.G2276T:p.C759F 0.52 0.48 0.59 0.53 0.54 0.52 0.5252 0.4823 0.5616 0.5315 0.4603 0.5272 0.5531 0.5403 0.52 0.49 0.53 0.49 0.52 rs2240695 COSM4159458;COSM4159457 1(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.007 0.632 D 0.122 0.270 B 0.03 0.261 B 0.019 0.273 U 0.661 0.810 P 3.465 0.926 M 2.49 0.145 T -8.19 0.970 D 0.179 0.238 -0.944 0.419 T 0.000 0.000 T . . . 2.908 0.410 21.9 0.954 0.263 0.965 0.690 D c 0.052 0.056 1.000 0.411 0.554 0.283 0 4.34 0.511 4.623 0.607 1.040 0.660 1.000 0.715 0.934 0.407 10.595 0.443 . ENSG00000204963.4|ENSG00000113141.11|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000239389.3|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000250120.2|ENSG00000250120.2|ENSG00000113141.11|ENSG00000113141.11|ENSG00000213523.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113119.8|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204967.6|ENSG00000146007.6|ENSG00000204963.4|ENSG00000113141.11|ENSG00000120314.14|ENSG00000249158.2|ENSG00000204967.6|ENSG00000204961.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113073.10|ENSG00000176087.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.5251 0.4821 0.5539 0.5236 0.5401 0.4512 0.5298 0.5219 0.5442 0.5089 0.4816 0.5588 0.5464 0.5324 0.4662 0.5292 0.5010 hom 3473.43 109 5 140168151 . G T 3473.43 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5655;MQ=59.10;MQ0=0;QD=31.87;VQSLOD=8.1461;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3473,289,0 5 140174622 140174622 G A exonic PCDHA2 nonsynonymous SNV PCDHA2:NM_018905:exon1:c.G73A:p.E25K,PCDHA2:NM_031495:exon1:c.G73A:p.E25K,PCDHA2:NM_031496:exon1:c.G73A:p.E25K 0.53 0.48 0.59 0.53 0.54 0.52 0.5257 0.4903 0.5613 0.5298 0.4604 0.5269 0.5521 0.5402 0.52 0.49 0.53 0.52 0.48 rs9686540 COSM4159460;COSM4159459 1(NS);2(haematopoietic_and_lymphoid_tissue);1(liver);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.195 0.215 T 0.019 0.167 B 0.03 0.205 B 0.600 0.110 U 0.989 0.243 P 1.325 0.333 L 0.71 0.512 T -1.96 0.454 N 0.038 0.135 -0.930 0.442 T 0.000 0.000 T . . . -0.030 0.091 2.307 0.955 0.265 0.087 0.144 N c -0.975 -1.035 0.001 0.086 0.534 0.214 0 -0.127 0.128 1.175 0.313 0.067 0.174 0.282 0.249 0.101 0.189 2.366 0.040 Cadherin ENSG00000250120.2|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000239389.3|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000250120.2|ENSG00000250120.2|ENSG00000113141.11|ENSG00000113141.11|ENSG00000213523.5|ENSG00000204967.6|ENSG00000255408.2|ENSG00000113119.8|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204967.6|ENSG00000146007.6|ENSG00000204963.4|ENSG00000113141.11|ENSG00000249158.2|ENSG00000204967.6|ENSG00000204961.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113073.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid 0.5255 0.4883 0.5544 0.5233 0.5396 0.4513 0.5297 0.5212 0.5443 0.5111 0.4875 0.5621 0.5464 0.5303 0.4662 0.5302 0.5010 hom 3105.09 102 5 140174622 . G A 3105.09 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1345;MQ=53.81;MQ0=1;QD=30.44;VQSLOD=3.4226;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,100:102:99:3138,271,0 5 140174865 140174865 G C exonic PCDHA2 nonsynonymous SNV PCDHA2:NM_018905:exon1:c.G316C:p.V106L,PCDHA2:NM_031495:exon1:c.G316C:p.V106L,PCDHA2:NM_031496:exon1:c.G316C:p.V106L 0.6 0.75 0.61 0.53 0.54 0.52 0.5469 0.7210 0.5741 0.5323 0.4604 0.5270 0.5617 0.5402 0.59 0.72 0.53 0.63 0.57 rs11167600 COSM3760953;COSM3760952 2(haematopoietic_and_lymphoid_tissue);1(kidney);1(pancreas);1(liver);1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.040 B 0.008 0.313 N 0.000 0.588 P -2.22 0.001 N 0.62 0.533 T 2.8 0.002 N 0.02 0.014 -0.915 0.463 T 0.000 0.000 T . . . 0.399 0.132 6.609 0.738 0.101 0.043 0.098 N c -1.278 -1.039 0.148 0.174 0.652 0.477 0 3.98 0.452 0.055 0.140 0.014 0.141 0.001 0.137 0.994 0.587 14.136 0.647 Cadherin|Cadherin\x2c N-terminal|Cadherin-like ENSG00000204967.6|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204967.6|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000239389.3|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000250120.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000113141.11|ENSG00000255408.2|ENSG00000213523.5|ENSG00000204967.6|ENSG00000255408.2|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113141.11|ENSG00000255408.2|ENSG00000204967.6|ENSG00000204970.5|ENSG00000242419.1|ENSG00000146007.6|ENSG00000204963.4|ENSG00000120314.14|ENSG00000249158.2|ENSG00000204967.6|ENSG00000204961.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113073.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid 0.5424 0.7240 0.5673 0.5239 0.5397 0.4513 0.5302 0.5324 0.5447 0.5792 0.7247 0.5813 0.5464 0.5315 0.4665 0.5308 0.5133 hom 8685.88 247 5 140174865 . G C 8685.88 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5145;MQ=56.70;MQ0=1;MQRankSum=1.155;QD=35.17;ReadPosRankSum=0.113;VQSLOD=3.8492;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,246:247:99:8685,686,0 5 140181734 140181734 A G exonic PCDHA3 nonsynonymous SNV PCDHA3:NM_018906:exon1:c.A952G:p.I318V,PCDHA3:NM_031497:exon1:c.A952G:p.I318V 0.53 0.48 0.59 0.53 0.54 0.52 0.5249 0.4838 0.5610 0.5308 0.4608 0.5267 0.5518 0.5394 0.52 0.5 0.53 0.52 0.57 rs3733708 COSM3760957;COSM3760956 2(haematopoietic_and_lymphoid_tissue);2(pancreas);1(liver);1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.517 0.356 P 0.359 0.507 B 0.001 0.420 U 0.000 0.810 P 1.925 0.515 L 0.66 0.524 T -0.98 0.260 N 0.067 0.054 -0.848 0.522 T 0.000 0.000 T . . . 3.763 0.509 23.3 0.997 0.820 0.450 0.272 N c -0.026 -0.055 0.768 0.236 0.598 0.340 0 3.54 0.395 0.238 0.176 1.136 0.884 0.004 0.165 1.000 0.888 10.542 0.440 Cadherin|Cadherin-like ENSG00000250120.2|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000239389.3|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000250120.2|ENSG00000250120.2|ENSG00000113141.11|ENSG00000113141.11|ENSG00000213523.5|ENSG00000204967.6|ENSG00000255408.2|ENSG00000113119.8|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204967.6|ENSG00000146007.6|ENSG00000204963.4|ENSG00000113141.11|ENSG00000249158.2|ENSG00000204967.6|ENSG00000204961.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113073.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid 0.5253 0.4850 0.5543 0.5235 0.5396 0.4514 0.5299 0.5217 0.5437 0.5105 0.4856 0.5609 0.5464 0.5296 0.4665 0.5303 0.4990 hom 6818.55 206 5 140181734 . A G 6818.55 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.40;MQ0=0;QD=33.10;VQSLOD=8.8328;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6818,530,0 5 140181892 140181892 T C exonic PCDHA3 synonymous SNV PCDHA3:NM_018906:exon1:c.T1110C:p.A370A,PCDHA3:NM_031497:exon1:c.T1110C:p.A370A 0.6 0.76 0.61 0.53 0.54 0.52 0.5477 0.7311 0.5746 0.5314 0.4611 0.5270 0.5617 0.5395 0.6 0.73 0.53 0.63 0.57 rs3733707 COSM3760958;COSM3760959 2(haematopoietic_and_lymphoid_tissue);1(liver);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5430 0.7337 0.5678 0.5235 0.5396 0.4515 0.5303 0.5326 0.5440 0.5814 0.7326 0.5789 0.5464 0.5297 0.4659 0.5312 0.5123 hom 7933.86 234 5 140181892 . T C 7933.86 Mask AC=2;AF=1.00;AN=2;DP=234;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.9459;MQ=59.33;MQ0=0;QD=33.91;VQSLOD=4.9936;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,233:234:99:7896,611,0 5 140182101 140182101 G T exonic PCDHA3 nonsynonymous SNV PCDHA3:NM_018906:exon1:c.G1319T:p.S440I,PCDHA3:NM_031497:exon1:c.G1319T:p.S440I 0.59 0.72 0.61 0.53 0.54 0.52 0.5450 0.7026 0.5730 0.5310 0.4607 0.5268 0.5617 0.5394 0.59 0.7 0.53 0.63 0.57 rs7701755 COSM1130916;COSM1130915 8(prostate);1(thyroid);3(large_intestine) . . . . . . . . . . . 0.104 0.299 T 0.189 0.331 B 0.089 0.438 B 0.028 0.256 U 2.589e-11 0.588 P 0.81 0.209 L 0.68 0.520 T -4.66 0.806 D 0.101 0.104 -0.999 0.303 T 0.000 0.000 T . . . 3.120 0.435 22.6 0.987 0.445 0.229 0.217 N c -0.417 -0.347 0.321 0.194 0.615 0.372 0 3.86 0.435 -0.764 0.048 0.067 0.174 0.000 0.063 0.226 0.223 10.185 0.420 Cadherin|Cadherin-like ENSG00000204967.6|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000239389.3|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000250120.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000113141.11|ENSG00000255408.2|ENSG00000213523.5|ENSG00000204967.6|ENSG00000255408.2|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113141.11|ENSG00000255408.2|ENSG00000204967.6|ENSG00000146007.6|ENSG00000204963.4|ENSG00000120314.14|ENSG00000249158.2|ENSG00000204967.6|ENSG00000204961.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113073.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid 0.5408 0.7040 0.5664 0.5206 0.5397 0.4514 0.5302 0.5317 0.5438 0.5732 0.7057 0.5791 0.5430 0.5286 0.4659 0.5304 0.5102 hom 7988.66 250 5 140182101 . G T 7988.66 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6439;MQ=58.10;MQ0=0;QD=31.95;VQSLOD=6.4062;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7987,674,0 5 140183058 140183058 G A exonic PCDHA3 nonsynonymous SNV PCDHA3:NM_018906:exon1:c.G2276A:p.C759Y,PCDHA3:NM_031497:exon1:c.G2276A:p.C759Y 0.53 0.48 0.59 0.53 0.54 0.52 0.5249 0.4839 0.5610 0.5305 0.4608 0.5266 0.5518 0.5393 0.52 0.5 0.53 0.48 0.55 rs2240694 COSM3760960;COSM3760961 2(haematopoietic_and_lymphoid_tissue);1(kidney);1(liver);2(large_intestine) . . . . . . . . . . . 0.014 0.564 D 0.035 0.192 B 0.042 0.227 B 0.087 0.205 U 0.000 0.810 P 2.795 0.818 M 2.49 0.145 T -8.29 0.970 D 0.152 0.185 -0.978 0.354 T 0.000 0.000 T . . . 3.422 0.469 23.0 0.832 0.141 0.899 0.503 D c -0.047 -0.016 0.999 0.387 0.646 0.450 0 3.26 0.363 2.748 0.469 0.898 0.412 0.998 0.411 0.998 0.697 13.870 0.630 . ENSG00000250120.2|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000239389.3|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000250120.2|ENSG00000250120.2|ENSG00000113141.11|ENSG00000113141.11|ENSG00000213523.5|ENSG00000204967.6|ENSG00000255408.2|ENSG00000113119.8|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204967.6|ENSG00000146007.6|ENSG00000204963.4|ENSG00000113141.11|ENSG00000249158.2|ENSG00000204967.6|ENSG00000204961.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113073.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid 0.5252 0.4851 0.5543 0.5235 0.5396 0.4513 0.5298 0.5217 0.5436 0.5102 0.4861 0.5600 0.5433 0.5291 0.4662 0.5297 0.4990 hom 6609.35 217 5 140183058 . G A 6609.35 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5786;MQ=59.31;MQ0=0;QD=30.46;VQSLOD=7.8028;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6608,548,0 5 140187322 140187322 C T exonic PCDHA4 nonsynonymous SNV PCDHA4:NM_018907:exon1:c.C550T:p.P184S,PCDHA4:NM_031500:exon1:c.C550T:p.P184S 0.59 0.72 0.61 0.53 0.54 0.52 0.5450 0.7039 0.5725 0.5300 0.4611 0.5274 0.5618 0.5395 0.59 0.7 0.53 0.63 0.57 rs3822346 COSM3760964;COSM3760965 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.103 0.301 T 0.0 0.090 B 0.002 0.063 B 0.220 0.161 N 1.000 0.090 P -1.67 0.004 N 0.81 0.499 T -1.05 0.275 N 0.007 0.000 -0.981 0.347 T 0.000 0.000 T . . . -0.937 0.034 0.021 0.845 0.148 0.015 0.049 N c -1.625 -1.531 1.000 0.437 0.526 0.212 0 -0.010 0.133 -3.126 0.006 0.154 0.240 0.000 0.063 0.611 0.291 5.077 0.139 Cadherin|Cadherin-like ENSG00000204967.6|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000239389.3|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000250120.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000113141.11|ENSG00000255408.2|ENSG00000213523.5|ENSG00000204967.6|ENSG00000255408.2|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113141.11|ENSG00000255408.2|ENSG00000204967.6|ENSG00000146007.6|ENSG00000204963.4|ENSG00000120314.14|ENSG00000249158.2|ENSG00000204967.6|ENSG00000204961.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113073.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid 0.5410 0.7040 0.5663 0.5235 0.5394 0.4515 0.5304 0.5317 0.5439 0.5738 0.7069 0.5793 0.5464 0.5268 0.4662 0.5309 0.5122 hom 1942.67 65 5 140187322 . C T 1942.67 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.96;MQ0=0;QD=29.89;VQSLOD=8.8135;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1976,159,0 5 140188383 140188383 T G exonic PCDHA4 synonymous SNV PCDHA4:NM_018907:exon1:c.T1611G:p.A537A,PCDHA4:NM_031500:exon1:c.T1611G:p.A537A 0.59 0.72 0.61 0.53 0.54 0.52 0.5445 0.7012 0.5720 0.5312 0.4617 0.5266 0.5610 0.5392 0.59 0.7 0.53 0.48 0.57 rs2337987 COSM1754031;COSM1754032 2(haematopoietic_and_lymphoid_tissue);2(urinary_tract);1(thyroid);1(upper_aerodigestive_tract);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5407 0.7031 0.5660 0.5232 0.5393 0.4518 0.5299 0.5313 0.5436 0.5737 0.7055 0.5800 0.5464 0.5286 0.4662 0.5312 0.5122 hom 5679.51 184 5 140188383 . T G 5679.51 Mask AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0537;MQ=52.25;MQ0=4;QD=30.87;VQSLOD=3.2938;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,184:184:99:5678,493,0 5 140188401 140188401 A G exonic PCDHA4 synonymous SNV PCDHA4:NM_018907:exon1:c.A1629G:p.P543P,PCDHA4:NM_031500:exon1:c.A1629G:p.P543P 0.59 0.72 0.61 0.53 0.54 0.52 0.5446 0.7013 0.5722 0.5326 0.4618 0.5266 0.56 0.5392 0.59 0.7 0.53 0.58 0.55 rs2879086 COSM3722960;COSM3722961 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5408 0.7030 0.5661 0.5231 0.5398 0.4518 0.5301 0.5313 0.5437 0.5739 0.7057 0.5801 0.5464 0.5285 0.4667 0.5313 0.5122 hom 6190.28 194 5 140188401 . A G 6190.28 Mask AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5025;MQ=53.63;MQ0=2;QD=31.91;VQSLOD=3.3050;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:6189,532,0 5 140188575 140188575 G C exonic PCDHA4 synonymous SNV PCDHA4:NM_018907:exon1:c.G1803C:p.S601S,PCDHA4:NM_031500:exon1:c.G1803C:p.S601S 0.59 0.72 0.61 0.53 0.54 0.52 0.5453 0.7036 0.5725 0.5309 0.4611 0.5274 0.5617 0.5397 0.59 0.71 0.53 0.63 0.54 rs2879087 COSM5009459;COSM5009460 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5410 0.7042 0.5662 0.5234 0.5395 0.4513 0.5304 0.5321 0.5438 0.5738 0.7063 0.5800 0.5464 0.5297 0.4662 0.5309 0.5123 hom 5752.37 172 5 140188575 . G C 5752.37 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=58.39;MQ0=0;QD=33.44;VQSLOD=8.7430;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:172:99:5751,487,0 5 140201420 140201420 T C exonic PCDHA5 synonymous SNV PCDHA5:NM_018908:exon1:c.T60C:p.L20L,PCDHA5:NM_031501:exon1:c.T60C:p.L20L 0.6 0.76 0.6 0.53 0.54 0.52 0.5478 0.7309 0.5744 0.5304 0.4610 0.5273 0.5617 0.5398 0.58 0.69 0.53 0.56 0.54 rs11958868 COSM3760968;COSM3760967;COSM3760966 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5432 0.7339 0.5676 0.5235 0.5402 0.4514 0.5305 0.5327 0.5440 0.5814 0.7322 0.5811 0.5464 0.5304 0.4665 0.5311 0.5122 hom 3719.40 121 5 140201420 . T C 3719.40 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2788;MQ=59.46;MQ0=0;QD=30.74;VQSLOD=8.9827;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:121:99:3719,310,0 5 140203432 140203432 C T exonic PCDHA5 nonsynonymous SNV PCDHA5:NM_018908:exon1:c.C2072T:p.A691V,PCDHA5:NM_031501:exon1:c.C2072T:p.A691V 0.53 0.51 0.59 0.53 0.54 0.52 0.5283 0.5157 0.5639 0.5313 0.4611 0.5273 0.5533 0.5392 0.53 0.52 0.53 0.53 0.54 rs4141841 COSM4159476;COSM4159477;COSM4159475 1(pancreas);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.094 0.313 T 0.005 0.131 B 0.004 0.127 B . . . 0.000 0.588 P 1.63 0.419 L 0.75 0.515 T -1.9 0.466 N 0.046 0.150 -0.929 0.443 T 0.000 0.000 T . . . 2.123 0.316 17.00 0.994 0.644 0.178 0.198 N c -0.610 -0.616 0.395 0.201 0.646 0.450 0 3.9 0.441 -0.723 0.050 0.888 0.391 0.000 0.063 0.026 0.142 14.426 0.666 . ENSG00000204963.4|ENSG00000113141.11|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204967.6|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000239389.3|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000250120.2|ENSG00000250120.2|ENSG00000213523.5|ENSG00000204967.6|ENSG00000255408.2|ENSG00000113119.8|ENSG00000113119.8|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204967.6|ENSG00000146007.6|ENSG00000204963.4|ENSG00000113141.11|ENSG00000249158.2|ENSG00000204967.6|ENSG00000204961.5|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113073.10|ENSG00000176087.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.5275 0.5135 0.5563 0.5234 0.5399 0.4514 0.5301 0.5230 0.5435 0.5188 0.5150 0.5621 0.5467 0.5290 0.4667 0.5301 0.5031 hom 5928.97 204 5 140203432 . C T 5928.97 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6565;MQ=59.32;MQ0=0;QD=29.06;VQSLOD=7.8887;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:204:99:5927,496,0 5 140209467 140209467 T G exonic PCDHA6 synonymous SNV PCDHA6:NM_018909:exon1:c.T1791G:p.V597V,PCDHA6:NM_031848:exon1:c.T1791G:p.V597V 0.6 0.75 0.61 0.53 0.54 0.52 0.5475 0.7230 0.5750 0.5316 0.4614 0.5278 0.5618 0.5396 0.59 0.72 0.53 0.29 0.57 rs7710794 COSM4159479;COSM4159478 2(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5429 0.7267 0.5679 0.5236 0.5397 0.4517 0.5308 0.5325 0.5439 0.5802 0.7281 0.5813 0.5464 0.5305 0.4667 0.5310 0.5144 hom 7357.61 211 5 140209467 . T G 7357.61 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=57.97;MQ0=0;QD=34.87;VQSLOD=7.6670;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:7357,587,0 5 140216042 140216042 G A exonic PCDHA7 nonsynonymous SNV PCDHA7:NM_018910:exon1:c.G2074A:p.E692K,PCDHA7:NM_031852:exon1:c.G2074A:p.E692K 0.023 0.0015 0.04 . 0.076 0.0082 0.0426 0.0094 0.0240 0.0001 0.0774 0.0598 0.0475 0.0151 0.042 0.014 0.057 0.022 0.049 rs61730623 COSM5734245;COSM5734246 1(pancreas) . . . . . . . . . . . 0.107 0.295 T 0.001 0.067 B 0.003 0.080 B 0.008 0.313 U 1.000 0.090 P 0.345 0.112 N 0.69 0.517 T 0.0 0.070 N 0.058 0.041 -1.063 0.109 T 0.003 0.008 T . . . 0.837 0.174 9.688 0.902 0.189 0.053 0.110 N c -1.439 -1.449 0.000 0.046 0.615 0.372 0 0.65 0.169 0.209 0.171 -1.140 0.017 0.000 0.063 0.000 0.016 7.960 0.291 . . . 0.0427 0.0087 0.0277 0.0481 0.0002 0.0705 0.0597 0.0534 0.0146 0.0459 0.0128 0.0274 0.0298 0 0.0781 0.0636 0.0531 het 3196.82 250 5 140216042 . G A 3196.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.348;DP=250;DS;Dels=0.00;FS=2.880;HRun=1;HaplotypeScore=6.2215;MQ=59.22;MQ0=0;MQRankSum=0.774;QD=12.79;ReadPosRankSum=-0.909;VQSLOD=4.6556;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3227,0,3384 5 140222641 140222641 A G exonic PCDHA8 nonsynonymous SNV PCDHA8:NM_018911:exon1:c.A1735G:p.K579E,PCDHA8:NM_031856:exon1:c.A1735G:p.K579E 0.58 0.73 0.56 0.53 0.49 0.51 0.5060 0.7087 0.5237 0.5301 0.4231 0.4739 0.5192 0.5162 0.55 0.71 0.47 0.29 0.45 rs6580012 COSM448785;COSM448786 2(haematopoietic_and_lymphoid_tissue);1(thyroid);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.368 N 1 0.090 P -2.06 0.002 N 2.12 0.197 T 2.91 0.002 N 0.012 0.001 -0.982 0.346 T 0.000 0.000 T . . . -1.169 0.026 0.007 0.423 0.031 0.002 0.013 N c -1.611 -1.549 0.000 0.069 0.554 0.246 0 0.381 0.154 1.953 0.397 -0.024 0.128 0.977 0.347 0.001 0.043 6.129 0.193 Cadherin|Cadherin-like ENSG00000204967.6|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204967.6|ENSG00000204967.6|ENSG00000113119.8|ENSG00000113141.11|ENSG00000204961.5|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000239389.3|ENSG00000204970.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000113119.8|ENSG00000239389.3|ENSG00000204961.5|ENSG00000250120.2|ENSG00000113141.11|ENSG00000120314.14|ENSG00000213523.5|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204963.4|ENSG00000255408.2|ENSG00000196963.2|ENSG00000204967.6|ENSG00000113119.8|ENSG00000204963.4|ENSG00000113141.11|ENSG00000204967.6|ENSG00000204963.4|ENSG00000146007.6|ENSG00000204963.4|ENSG00000204967.6|ENSG00000204967.6|ENSG00000204963.4|ENSG00000113073.10|ENSG00000176087.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4996 0.7119 0.5182 0.4537 0.5365 0.4095 0.4766 0.4836 0.5187 0.5410 0.7116 0.5255 0.4864 0.5231 0.4255 0.4765 0.4731 hom 6510.69 208 5 140222641 . A G 6510.69 Mask AC=2;AF=1.00;AN=2;DP=208;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4310;MQ=58.82;MQ0=0;QD=31.30;VQSLOD=7.7597;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,208:208:99:6509,560,0 5 140230370 140230370 A C exonic PCDHA9 nonsynonymous SNV PCDHA9:NM_014005:exon1:c.A2290C:p.K764Q,PCDHA9:NM_031857:exon1:c.A2290C:p.K764Q 0.63 0.74 0.58 0.46 0.63 0.68 0.6232 0.7244 0.5495 0.4809 0.6747 0.6264 0.6142 0.6526 0.66 0.72 0.62 . 0.51 rs369636 COSM3927818;COSM3927817 1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.036 0.440 D 0.0 0.026 B 0.0 0.013 B 0.907 0.086 U 1 0.090 P -0.805 0.016 N 2.78 0.113 T 0.04 0.065 N 0.051 0.055 -1.024 0.222 T 0.000 0.000 T . . . -1.093 0.029 0.010 0.571 0.056 0.015 0.050 N c -1.618 -1.604 0.000 0.035 0.554 0.246 0 -1.83 0.074 -0.311 0.081 -0.663 0.040 0.000 0.063 0.016 0.126 4.814 0.126 Cadherin\x2c cytoplasmic C-terminal domain ENSG00000196963.2|ENSG00000204963.4|ENSG00000204967.6|ENSG00000196963.2|ENSG00000204967.6|ENSG00000196963.2|ENSG00000239389.3|ENSG00000204961.5|ENSG00000255408.2|ENSG00000239389.3|ENSG00000204961.5|ENSG00000250120.2|ENSG00000113119.8|ENSG00000239389.3|ENSG00000204961.5|ENSG00000239389.3|ENSG00000204961.5|ENSG00000239389.3|ENSG00000239389.3|ENSG00000250120.2|ENSG00000213523.5|ENSG00000113141.11|ENSG00000120322.2|ENSG00000196963.2|ENSG00000196963.2|ENSG00000204963.4|ENSG00000239389.3|ENSG00000204963.4|ENSG00000196963.2|ENSG00000204963.4|ENSG00000204967.6|ENSG00000239389.3|ENSG00000176087.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.6193 0.7171 0.5633 0.6532 0.4731 0.6831 0.6218 0.6366 0.6449 0.6466 0.7170 0.5796 0.6241 0.4812 0.6749 0.6221 0.6271 het 2945.89 245 5 140230370 . A C 2945.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.490;DP=245;DS;Dels=0.00;FS=6.265;HRun=0;HaplotypeScore=7.4318;MQ=58.88;MQ0=0;MQRankSum=-0.345;QD=12.02;ReadPosRankSum=0.410;VQSLOD=4.2317;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,109:245:99:2976,0,3438 5 140230371 140230371 A C exonic PCDHA9 nonsynonymous SNV PCDHA9:NM_014005:exon1:c.A2291C:p.K764T,PCDHA9:NM_031857:exon1:c.A2291C:p.K764T 0.63 0.74 0.58 0.46 0.63 0.68 0.6230 0.7232 0.5494 0.4806 0.6743 0.6263 0.6142 0.6526 0.66 0.72 0.62 . 0.51 rs369639 COSM3927819;COSM3927820 1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.509 0.088 T 0.0 0.067 B 0.0 0.013 B 0.907 0.086 U 1 0.090 P -1.625 0.004 N 2.79 0.112 T 0.55 0.027 N 0.075 0.098 -1.020 0.237 T 0.000 0.000 T . . . -1.648 0.014 0.002 0.909 0.196 0.003 0.016 N c -1.407 -1.390 0.000 0.029 0.554 0.246 0 -1.16 0.091 -0.990 0.038 -0.066 0.121 0.000 0.063 0.007 0.100 0.820 0.010 Cadherin\x2c cytoplasmic C-terminal domain ENSG00000196963.2|ENSG00000204963.4|ENSG00000204967.6|ENSG00000196963.2|ENSG00000204967.6|ENSG00000196963.2|ENSG00000239389.3|ENSG00000204961.5|ENSG00000255408.2|ENSG00000250120.2|ENSG00000239389.3|ENSG00000204961.5|ENSG00000250120.2|ENSG00000113119.8|ENSG00000239389.3|ENSG00000204961.5|ENSG00000239389.3|ENSG00000204961.5|ENSG00000239389.3|ENSG00000239389.3|ENSG00000250120.2|ENSG00000213523.5|ENSG00000113141.11|ENSG00000120322.2|ENSG00000196963.2|ENSG00000196963.2|ENSG00000204963.4|ENSG00000239389.3|ENSG00000204963.4|ENSG00000196963.2|ENSG00000204963.4|ENSG00000204967.6|ENSG00000113119.8|ENSG00000239389.3|ENSG00000176087.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.6192 0.7156 0.5631 0.6529 0.4732 0.6830 0.6217 0.6366 0.6449 0.6459 0.7152 0.5782 0.6241 0.4806 0.6749 0.6219 0.6279 het 2788.54 246 5 140230371 . A C 2788.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.056;DP=246;DS;Dels=0.00;FS=7.145;HRun=0;HaplotypeScore=7.4318;MQ=58.89;MQ0=0;MQRankSum=-0.542;QD=11.34;ReadPosRankSum=-0.003;VQSLOD=4.0116;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:133,113:246:99:2819,0,3610 5 140256920 140256920 G C exonic PCDHA12 synonymous SNV PCDHA12:NM_018903:exon1:c.G1863C:p.P621P,PCDHA12:NM_031864:exon1:c.G1863C:p.P621P 0.022 0.013 0.03 . 0.066 0.0072 0.0403 0.0221 0.0217 0.0001 0.0703 0.0550 0.0431 0.0146 0.043 0.027 0.051 0.022 . rs115718636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0403 0.0221 0.0250 0.0563 0.0001 0.0644 0.0540 0.0503 0.0146 0.0446 0.0281 0.0215 0.0331 0 0.0690 0.0548 0.0448 het 2704.53 187 5 140256920 . G C 2704.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.784;DP=187;Dels=0.00;FS=1.178;HRun=3;HaplotypeScore=3.7316;MQ=59.21;MQ0=0;MQRankSum=-0.647;QD=14.46;ReadPosRankSum=0.194;VQSLOD=5.3419;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,91:187:99:2735,0,2426 5 140262492 140262492 A T exonic PCDHA13 synonymous SNV PCDHA13:NM_018904:exon1:c.A639T:p.T213T,PCDHA13:NM_031865:exon1:c.A639T:p.T213T 0.081 0.081 0.12 0.018 0.14 0.052 0.1226 0.0899 0.1279 0.0147 0.1357 0.1516 0.1355 0.0729 0.13 0.089 0.15 0.098 0.16 rs11744560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1234 0.0860 0.1285 0.1801 0.0143 0.1314 0.1498 0.1433 0.0738 0.1218 0.0900 0.1229 0.1391 0.0173 0.1377 0.1475 0.1224 het 2328.49 141 5 140262492 . A T 2328.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.125;DP=141;Dels=0.00;FS=0.640;HRun=0;HaplotypeScore=5.6276;MQ=59.36;MQ0=0;MQRankSum=-0.382;QD=16.51;ReadPosRankSum=-0.495;VQSLOD=4.5597;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,82:141:99:2358,0,1565 5 140307284 140307284 G A exonic PCDHAC1 synonymous SNV PCDHAC1:NM_018898:exon1:c.G807A:p.Q269Q,PCDHAC1:NM_031882:exon1:c.G807A:p.Q269Q 0.57 0.72 0.59 0.61 0.52 0.38 0.5250 0.7114 0.5875 0.5971 0.4616 0.5077 0.5254 0.4219 0.58 0.71 0.51 0.56 0.55 rs155361 COSM3760972;COSM3760971 3(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5243 0.7128 0.5752 0.5349 0.6099 0.4515 0.5100 0.5124 0.4304 0.5651 0.7137 0.5561 0.5132 0.6128 0.4625 0.5042 0.4857 hom 2721.36 86 5 140307284 . G A 2721.36 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=59.46;MQ0=0;QD=31.64;VQSLOD=9.4264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2754,226,0 5 140307746 140307746 C G exonic PCDHAC1 synonymous SNV PCDHAC1:NM_018898:exon1:c.C1269G:p.P423P,PCDHAC1:NM_031882:exon1:c.C1269G:p.P423P 0.36 0.23 0.39 0.55 0.33 0.33 0.3457 0.2491 0.4214 0.5288 0.2946 0.3308 0.3469 0.3382 0.3 0.25 0.33 0.24 0.34 rs155820 COSM4003332;COSM4003333 3(haematopoietic_and_lymphoid_tissue);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3500 0.2480 0.4063 0.3249 0.5423 0.2896 0.3341 0.3291 0.3448 0.3193 0.2519 0.3950 0.3377 0.5446 0.2962 0.3352 0.3173 het 1663.27 140 5 140307746 . C G 1663.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.940;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9389;MQ=59.51;MQ0=0;MQRankSum=2.368;QD=11.88;ReadPosRankSum=-0.153;VQSLOD=5.0698;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,71:140:99:1693,0,2059 5 140346468 140346468 T A exonic PCDHAC2 synonymous SNV PCDHAC2:NM_018899:exon1:c.T117A:p.P39P,PCDHAC2:NM_031883:exon1:c.T117A:p.P39P 0.58 0.74 0.6 0.61 0.52 0.4 0.5758 0.7365 0.6351 0.6358 0.5307 0.5690 0.5766 0.4775 0.59 0.72 0.52 0.38 0.3 rs155364 COSM448835 2(thyroid);5(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5203 0.7016 0.5716 0.5331 0.6050 0.4358 0.5046 0.5111 0.4383 0.5654 0.7139 0.5612 0.51 0.6114 0.4524 0.5068 0.4867 hom 577.21 17 5 140346468 . T A 577.21 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.95;VQSLOD=13.6686;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:610,48,0 5 140346712 140346712 T C exonic PCDHAC2 synonymous SNV PCDHAC2:NM_018899:exon1:c.T361C:p.L121L,PCDHAC2:NM_031883:exon1:c.T361C:p.L121L 0.36 0.22 0.4 0.55 0.34 0.34 0.3537 0.2511 0.4301 0.5271 0.2905 0.3422 0.3431 0.3440 0.31 0.25 0.34 0.22 0.37 rs155808 COSM5619089 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3562 0.2434 0.4139 0.3327 0.5397 0.2843 0.3448 0.3361 0.3504 0.3228 0.2472 0.4105 0.3510 0.5444 0.2902 0.3448 0.3245 het 1119.12 70 5 140346712 . T C 1119.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.032;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.67;MQ0=0;MQRankSum=1.102;QD=15.99;ReadPosRankSum=1.326;VQSLOD=6.6241;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,38:70:99:1149,0,912 5 140347053 140347053 C T exonic PCDHAC2 synonymous SNV PCDHAC2:NM_018899:exon1:c.C702T:p.I234I,PCDHAC2:NM_031883:exon1:c.C702T:p.I234I 0.35 0.22 0.39 0.55 0.33 0.33 0.3439 0.2461 0.4211 0.5210 0.2863 0.3301 0.3356 0.3381 0.3 0.25 0.33 0.25 0.36 rs155807 COSM4003334 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3475 0.2422 0.4051 0.3248 0.5343 0.2819 0.3331 0.3264 0.3432 0.3153 0.2455 0.3971 0.3411 0.5413 0.2865 0.3330 0.3163 het 1505.19 118 5 140347053 . C T 1505.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.188;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4934;MQ=59.41;MQ0=0;MQRankSum=0.652;QD=12.76;ReadPosRankSum=0.899;VQSLOD=5.9231;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,57:118:99:1535,0,1639 5 140347398 140347398 C T exonic PCDHAC2 synonymous SNV PCDHAC2:NM_018899:exon1:c.C1047T:p.C349C,PCDHAC2:NM_031883:exon1:c.C1047T:p.C349C 0.076 0.051 0.13 0.019 0.15 0.062 0.1246 0.0747 0.1301 0.0146 0.1352 0.1545 0.1356 0.0843 0.13 0.077 0.16 0.087 0.17 rs12153295 COSM3760975 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1252 0.0724 0.1303 0.1754 0.0143 0.1310 0.1527 0.1436 0.0848 0.1182 0.0768 0.1193 0.1358 0.0173 0.1374 0.1479 0.1253 het 1327.08 97 5 140347398 . C T 1327.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.466;DP=97;Dels=0.00;FS=0.806;HRun=0;HaplotypeScore=6.8769;MQ=59.76;MQ0=0;MQRankSum=-1.552;QD=13.68;ReadPosRankSum=-0.229;VQSLOD=3.9765;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,54:97:99:1357,0,1097 5 140474756 140474756 G A exonic PCDHB2 nonsynonymous SNV PCDHB2:NM_018936:exon1:c.G382A:p.V128I 0.097 0.15 0.046 0.078 0.072 0.11 0.0845 0.1370 0.0388 0.0735 0.0701 0.0799 0.0811 0.1153 0.095 0.13 0.076 0.098 0.074 rs31853 COSM5008441 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.945 0.013 N -0.03 0.631 T 0.72 0.021 N 0.047 0.028 -1.029 0.209 T 0.001 0.002 T . . . -1.373 0.020 0.004 0.100 0.001 0.016 0.051 N c -1.468 -1.323 0.995 0.341 0.733 0.969 0 1.33 0.209 -0.083 0.112 -0.114 0.115 0.000 0.063 0.021 0.135 9.085 0.355 Cadherin|Cadherin conserved site|Cadherin-like ENSG00000112852.4|ENSG00000112852.4|ENSG00000112852.4|ENSG00000112852.4|ENSG00000112852.4|ENSG00000112852.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.0808 0.1348 0.0421 0.0816 0.0729 0.0732 0.0788 0.0726 0.1146 0.0919 0.1358 0.0537 0.0960 0.0623 0.0725 0.0774 0.0733 het 647.99 38 5 140474756 . G A 647.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.166;DP=38;Dels=0.00;FS=3.003;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=1.952;QD=17.05;ReadPosRankSum=-0.530;VQSLOD=5.5638;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,24:38:99:678,0,373 5 140480355 140480355 A G exonic PCDHB3 nonsynonymous SNV PCDHB3:NM_018937:exon1:c.A122G:p.K41R 0.097 0.14 0.046 0.078 0.072 0.11 0.0844 0.1356 0.0387 0.0737 0.0700 0.0798 0.0804 0.1144 0.094 0.13 0.076 0.098 0.074 rs31849 COSM5008442 2(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.364 0.117 T 0.0 0.026 B 0.002 0.063 B . . . 1 0.090 P -0.485 0.027 N 1.65 0.276 T 0.19 0.050 N 0.027 0.009 -0.978 0.355 T 0.000 0.002 T . . . -1.101 0.028 0.010 0.573 0.056 0.005 0.022 N c -1.547 -1.486 0.395 0.201 0.526 0.212 0 0.805 0.178 -1.777 0.019 -1.952 0.005 0.000 0.063 0.419 0.257 7.406 0.260 Cadherin\x2c N-terminal|Cadherin-like ENSG00000112852.4|ENSG00000112852.4|ENSG00000112852.4|ENSG00000112852.4|ENSG00000112852.4|ENSG00000112852.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.0806 0.1343 0.0417 0.0807 0.0729 0.0730 0.0787 0.0722 0.1144 0.0916 0.1349 0.0514 0.0960 0.0630 0.0722 0.0776 0.0724 het 867.94 66 5 140480355 . A G 867.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.604;DP=66;Dels=0.00;FS=10.444;HRun=3;HaplotypeScore=1.9465;MQ=58.86;MQ0=0;MQRankSum=2.274;QD=13.15;ReadPosRankSum=-1.156;VQSLOD=3.9515;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:898,0,946 5 140480578 140480578 A G exonic PCDHB3 synonymous SNV PCDHB3:NM_018937:exon1:c.A345G:p.Q115Q 0.058 0.0038 0.036 0.079 0.072 0.11 0.0738 0.0180 0.0329 0.0740 0.0700 0.0797 0.0782 0.1144 0.057 0.02 0.076 0.065 0.082 rs17844387 COSM5008443 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0723 0.0163 0.0362 0.0807 0.0730 0.0730 0.0786 0.0684 0.1142 0.0577 0.0163 0.0443 0.0960 0.0630 0.0724 0.0774 0.0631 het 1223.37 116 5 140480578 . A G 1223.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.593;DP=116;Dels=0.00;FS=2.571;HRun=0;HaplotypeScore=4.5630;MQ=58.72;MQ0=0;MQRankSum=-0.697;QD=10.55;ReadPosRankSum=2.341;VQSLOD=4.1314;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,48:116:99:1253,0,1941 5 140517174 140517174 T C exonic PCDHB5 nonsynonymous SNV PCDHB5:NM_015669:exon1:c.T2158C:p.S720P 0.85 0.83 0.8 0.88 0.84 0.89 0.8362 0.8013 0.8179 0.8730 0.8901 0.8215 0.8595 0.8870 0.81 0.8 0.82 0.77 0.76 rs400562 COSM5763389 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8338 0.7971 0.8101 0.7828 0.8790 0.8841 0.8190 0.8238 0.8874 0.8288 0.7992 0.8110 0.7914 0.8668 0.8862 0.8291 0.8459 hom 7352.44 230 5 140517174 . T C 7352.44 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.641;DP=230;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.7787;MQ=57.53;MQ0=0;MQRankSum=0.137;QD=31.97;ReadPosRankSum=-0.562;VQSLOD=6.0095;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,229:230:99:7351,596,0 5 140530718 140530718 G T exonic PCDHB6 nonsynonymous SNV PCDHB6:NM_018939:exon1:c.G880T:p.A294S,PCDHB6:NM_001303145:exon2:c.G472T:p.A158S 0.024 . 0.0086 . 0.021 0.096 0.0300 0.0039 0.0135 0.0005 0.0124 0.0253 0.0396 0.0993 0.017 0.0045 0.024 0.033 0.0082 rs35620136 . . . . . . . . . . . . . 0.404 0.103 T 0.029 0.185 B 0.042 0.227 B . . . 1 0.090 N -0.98 0.012 N 5.2 0.012 T -0.03 0.075 N 0.016 0.032 -0.916 0.461 T 0.001 0.003 T . . . -0.736 0.043 0.060 0.869 0.163 0.058 0.116 N c -1.603 -1.575 0.358 0.197 0.487 0.133 0 -4.79 0.029 -5.048 0.002 -0.395 0.063 0.000 0.063 0.601 0.289 7.416 0.261 Cadherin|Cadherin-like . . 0.0289 0.0033 0.0129 0.0527 0.0007 0.0138 0.0237 0.0305 0.0970 0.0167 0.0030 0.0179 0.0695 0.0006 0.0103 0.0261 0.0255 het 1401.22 134 5 140530718 . G T 1401.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.903;DP=134;Dels=0.00;FS=0.653;HRun=0;HaplotypeScore=3.0110;MQ=59.86;MQ0=0;MQRankSum=1.093;QD=10.46;ReadPosRankSum=-2.220;VQSLOD=4.5340;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,54:134:99:1431,0,2039 5 140553581 140553581 G C exonic PCDHB7 nonsynonymous SNV PCDHB7:NM_018940:exon1:c.G1165C:p.V389L 0.63 0.69 0.64 0.66 0.55 0.58 0.5942 0.6729 0.6432 0.6158 0.5463 0.5696 0.6004 0.6170 0.6 0.67 0.57 0.65 0.66 rs2910313 COSM1434230 1(breast);2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.090 P -1.095 0.010 N 0.72 0.510 T 1.9 0.005 N 0.022 0.005 -0.916 0.461 T 0.000 0.000 T . . . -0.291 0.069 0.698 0.704 0.090 0.031 0.080 N c -1.263 -1.110 0.037 0.143 0.554 0.283 0 2.73 0.311 0.105 0.151 0.014 0.141 0.000 0.063 0.910 0.387 10.046 0.412 Cadherin|Cadherin-like ENSG00000196963.2|ENSG00000120324.4|ENSG00000120328.4|ENSG00000120328.4|ENSG00000197479.4|ENSG00000120324.4|ENSG00000120328.4|ENSG00000177839.4|ENSG00000196963.2|ENSG00000120322.2|ENSG00000120324.4|ENSG00000120328.4|ENSG00000120324.4|ENSG00000120328.4|ENSG00000120324.4|ENSG00000120324.4|ENSG00000120324.4|ENSG00000120324.4|ENSG00000120328.4|ENSG00000196963.2|ENSG00000196963.2|ENSG00000120324.4|ENSG00000120328.4|ENSG00000120324.4|ENSG00000120328.4|ENSG00000196963.2|ENSG00000120324.4|ENSG00000120328.4|ENSG00000177839.4|ENSG00000197479.4|ENSG00000196963.2|ENSG00000120324.4|ENSG00000120328.4|ENSG00000177839.4|ENSG00000197479.4|ENSG00000196963.2|ENSG00000120324.4|ENSG00000120327.4|ENSG00000120328.4|ENSG00000120324.4|ENSG00000197479.4|ENSG00000197479.4|ENSG00000120324.4|ENSG00000120328.4|ENSG00000262096.1|ENSG00000113212.4|ENSG00000196963.2|ENSG00000120322.2|ENSG00000120327.4|ENSG00000197479.4|ENSG00000196963.2|ENSG00000120324.4|ENSG00000120328.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid 0.5934 0.6692 0.6291 0.5591 0.6216 0.5474 0.5720 0.5786 0.625 0.5915 0.6603 0.6599 0.5563 0.6099 0.5473 0.5592 0.5543 het 1491.92 107 5 140553581 . G C 1491.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.755;DP=107;Dels=0.00;FS=4.806;HRun=0;HaplotypeScore=8.1237;MQ=58.32;MQ0=0;MQRankSum=0.768;QD=13.94;ReadPosRankSum=-0.174;VQSLOD=3.7271;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,54:107:99:1522,0,1468 5 140553856 140553856 G A exonic PCDHB7 synonymous SNV PCDHB7:NM_018940:exon1:c.G1440A:p.S480S 0.63 0.69 0.64 0.66 0.55 0.58 0.5944 0.6727 0.6443 0.6170 0.5462 0.5697 0.5991 0.6168 0.6 0.67 0.57 0.59 0.66 rs2907330 COSM4408687 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5935 0.6693 0.6297 0.5590 0.6216 0.5471 0.5722 0.5786 0.6250 0.5910 0.6586 0.6603 0.5563 0.6106 0.5475 0.5592 0.5521 het 4575.06 247 5 140553856 . G A 4575.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.101;DP=247;DS;Dels=0.00;FS=8.175;HRun=0;HaplotypeScore=3.9362;MQ=58.53;MQ0=0;MQRankSum=1.069;QD=18.52;ReadPosRankSum=0.328;VQSLOD=3.0456;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:116,131:247:99:3888,0,3146 5 140567608 140567608 C T exonic PCDHB9 unknown UNKNOWN 0.37 0.31 0.36 0.34 0.45 0.42 0.4033 0.3257 0.3560 0.3859 0.4508 0.4263 0.3969 0.3815 0.39 0.33 0.42 0.35 . rs11167743 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4035 0.3282 0.3693 0.4410 0.3784 0.4494 0.4230 0.4179 0.3737 0.4069 0.3395 0.3437 0.4437 0.3948 0.4516 0.4374 0.4426 het 912.71 73 5 140567608 . C T 912.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.211;DP=73;Dels=0.00;FS=0.996;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=2.137;QD=12.50;ReadPosRankSum=-1.441;VQSLOD=4.5082;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,38:73:99:943,0,1089 5 140568034 140568034 - A exonic PCDHB9 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. 0.46 . rs397788714 COSN20101909;COSN20101914;COSN20101911;COSN20101910;COSN20101912;COSN20101913 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 3044.66 75 5 140568034 . C CA 3044.66 Mask AC=2;AF=1.00;AN=2;DP=75;FS=0.000;HRun=1;HaplotypeScore=153.7842;MQ=60.18;MQ0=0;QD=40.60;set=variant2 GT:AD:DP:GQ:PL 1/1:6,69:75:99:3087,208,0 5 140572763 140572763 C G exonic PCDHB10 nonsynonymous SNV PCDHB10:NM_018930:exon1:c.C638G:p.T213R 0.097 0.017 0.088 0.093 0.14 0.17 0.1401 0.0442 0.0611 0.0835 0.1913 0.1597 0.1784 0.1836 0.12 0.048 0.16 0.098 0.19 rs2907323 . . . . . . . . . . . . . 0.0 0.912 D 0.977 0.566 D 0.934 0.652 D . . . 0.230 0.341 P 1.835 0.484 L 4.1 0.030 T -5.42 0.852 D 0.26 0.317 -1.086 0.063 T 0.000 0.000 T . . . 5.049 0.680 25.2 0.993 0.595 0.169 0.194 N c 0.242 0.082 0.043 0.146 0.554 0.246 0 3.41 0.380 0.046 0.138 0.851 0.350 0.000 0.063 0.051 0.165 6.831 0.229 Cadherin|Cadherin-like ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000131503.16|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000113212.4|ENSG00000196963.2|ENSG00000113248.3|ENSG00000120327.4|ENSG00000120322.2 Adipose_Subcutaneous|Artery_Coronary|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Pituitary|Testis|Testis|Testis|Testis|Thyroid 0.1400 0.0401 0.0661 0.1598 0.0814 0.1886 0.1612 0.1451 0.1838 0.1220 0.0358 0.1002 0.2185 0.0728 0.1910 0.1595 0.1379 het 2620.83 197 5 140572763 . C G 2620.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.189;DP=197;DS;Dels=0.00;FS=1.374;HRun=0;HaplotypeScore=5.2255;MQ=58.89;MQ0=0;MQRankSum=0.889;QD=13.30;ReadPosRankSum=1.180;VQSLOD=4.6565;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,94:197:99:2651,0,2994 5 140589738 140589738 C T exonic PCDHB12 nonsynonymous SNV PCDHB12:NM_018932:exon1:c.C1259T:p.T420I 0.12 0.1 0.094 0.093 0.14 0.17 0.1463 0.1148 0.0638 0.0835 0.1899 0.1596 0.1817 0.1837 0.15 0.12 0.16 0.14 0.22 rs2910327 COSM5008446 2(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.118 0.250 B 0.247 0.372 B . . . 0.075 0.368 P 2.77 0.812 M 3.96 0.034 T -5.97 0.892 D 0.181 0.674 -1.123 0.021 T 0.000 0.000 T . . . 4.627 0.620 24.5 0.998 0.851 0.921 0.548 D c -0.111 -0.137 0.979 0.299 0.554 0.283 0 2.96 0.332 1.023 0.295 0.803 0.325 0.044 0.210 0.048 0.163 10.889 0.460 Cadherin|Cadherin\x2c N-terminal|Cadherin-like;Cadherin|Cadherin-like ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000113212.4|ENSG00000113248.3|ENSG00000120327.4|ENSG00000120322.2 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Pituitary|Testis|Testis|Testis|Thyroid 0.1450 0.1110 0.0699 0.1598 0.0813 0.1874 0.1614 0.1486 0.1840 0.1413 0.1038 0.1050 0.2185 0.0747 0.1903 0.1594 0.1405 het 2881.63 198 5 140589738 . C T 2881.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.715;DP=198;Dels=0.00;FS=5.855;HRun=0;HaplotypeScore=6.8657;MQ=58.17;MQ0=0;MQRankSum=-0.239;QD=14.55;ReadPosRankSum=-0.753;VQSLOD=3.4842;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,109:198:99:2912,0,2459 5 140590766 140590766 A G exonic PCDHB12 nonsynonymous SNV PCDHB12:NM_018932:exon1:c.A2287G:p.K763E 0.39 0.75 0.34 0.13 0.32 0.27 0.3465 0.7052 0.2733 0.1188 0.3144 0.3469 0.3576 0.3010 0.47 0.7 0.35 0.4 0.43 rs2910006 COSM1180600 1(breast);1(liver);1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.999 0.215 P -3.455 0.000 N 2.72 0.120 T 3.46 0.001 N 0.028 0.021 -0.952 0.407 T 0.000 0.000 T . . . -0.381 0.063 0.429 0.487 0.040 0.026 0.071 N c -1.510 -1.264 0.487 0.208 0.534 0.214 0 3.13 0.349 5.514 0.665 -0.079 0.119 1.000 0.715 0.002 0.062 9.497 0.380 Cadherin\x2c cytoplasmic C-terminal domain;Cadherin|Cadherin-like ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000146001.4|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000196963.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000120322.2|ENSG00000253159.1|ENSG00000120322.2|ENSG00000113212.4|ENSG00000120327.4|ENSG00000120322.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid 0.3393 0.7005 0.2845 0.3787 0.1154 0.3218 0.3498 0.3566 0.3036 0.4209 0.6829 0.3245 0.3775 0.1075 0.3220 0.3375 0.3289 het 2132.64 163 5 140590766 . A G 2132.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.541;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5905;MQ=58.26;MQ0=0;MQRankSum=0.367;QD=13.08;ReadPosRankSum=0.261;VQSLOD=5.5347;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,82:163:99:2163,0,2145 5 140625207 140625207 C T exonic PCDHB15 synonymous SNV PCDHB15:NM_018935:exon1:c.C61T:p.L21L 0.024 . 0.0086 . 0.021 0.095 0.0301 0.0039 0.0142 0.0005 0.0121 0.0252 0.0407 0.0996 0.017 0.0045 0.024 0.033 0.0082 rs35154204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0290 0.0034 0.0132 0.0530 0.0007 0.0137 0.0237 0.0301 0.0975 0.0168 0.0029 0.0191 0.0695 0.0006 0.0103 0.0263 0.0266 het 952.66 76 5 140625207 . C T 952.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.407;DP=76;Dels=0.00;FS=6.183;HRun=1;HaplotypeScore=4.6485;MQ=58.39;MQ0=0;MQRankSum=0.782;QD=12.53;ReadPosRankSum=1.073;VQSLOD=4.5726;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,35:76:99:983,0,1072 5 140683265 140683265 G A exonic SLC25A2 synonymous SNV SLC25A2:NM_031947:exon1:c.C168T:p.A56A 0.52 0.32 0.53 0.59 0.61 0.59 0.5802 0.3429 0.4997 0.5773 0.6059 0.6245 0.6068 0.5972 0.52 0.35 0.61 0.41 0.61 rs11952797 COSM4159543 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5837 0.3423 0.5088 0.7086 0.5835 0.6115 0.6176 0.5985 0.5999 0.5286 0.3439 0.5334 0.6967 0.5792 0.6006 0.6059 0.5938 hom 3783.83 119 5 140683265 . G A 3783.83 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7257;MQ=59.07;MQ0=0;QD=31.80;VQSLOD=8.9645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3783,304,0 5 140710705 140710705 G A exonic PCDHGA1 nonsynonymous SNV PCDHGA1:NM_018912:exon1:c.G454A:p.V152I,PCDHGA1:NM_031993:exon1:c.G454A:p.V152I 0.93 0.91 0.98 0.89 0.97 0.93 0.9606 0.9211 0.9807 0.8765 0.9767 0.9740 0.9593 0.9552 0.96 0.92 0.97 0.92 0.84 rs2472647 . . . . . . . . . . . . . 0.115 0.315 T 0.0 0.026 B 0.0 0.013 B 0.005 0.335 N 1 0.090 P -0.535 0.025 N 0.44 0.566 T 0.84 0.018 N 0.012 0.001 -1.028 0.211 T 0.000 0.000 T . . . 0.304 0.123 5.735 0.882 0.172 0.218 0.213 N c -0.887 -0.750 0.990 0.318 0.554 0.283 0 0.075 0.136 1.222 0.319 0.244 0.267 0.358 0.256 0.997 0.653 0.646 0.008 Cadherin|Cadherin-like ENSG00000204956.4 Adipose_Subcutaneous 0.9636 0.9202 0.9806 0.9849 0.8837 0.9753 0.9745 0.9639 0.9565 0.9591 0.9294 0.9916 0.9868 0.8912 0.9814 0.9758 0.9653 hom 7855.28 249 5 140710705 . G A 7855.28 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6538;MQ=59.82;MQ0=0;QD=31.55;VQSLOD=9.1830;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7854,620,0 5 140750044 140750044 T C exonic PCDHGB3 nonsynonymous SNV PCDHGB3:NM_018924:exon1:c.T83C:p.V28A,PCDHGB3:NM_032097:exon1:c.T83C:p.V28A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs6860609 COSM4591949;COSM4591948 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1996.67 65 5 140750044 . T C 1996.67 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6385;MQ=59.65;MQ0=0;QD=30.72;VQSLOD=9.4230;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2030,156,0 5 140773812 140773812 G A exonic PCDHGA8 nonsynonymous SNV PCDHGA8:NM_014004:exon1:c.G1432A:p.D478N,PCDHGA8:NM_032088:exon1:c.G1432A:p.D478N 0.002 . 0.0029 . 0.007 0.001 0.0021 0.0009 0.0011 0 0 0.0030 0.0034 0.0021 0.0024 0.001 0.0031 0.011 . rs144796076 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.006 0.321 U 1 0.810 D 5.08 0.999 H -0.85 0.744 T -4.98 0.821 D 0.309 0.370 0.879 0.954 D 0.745 0.913 D 0.193 0.863 D 5.122 0.691 25.4 0.999 0.959 0.998 0.992 D c 0.962 0.739 1.000 0.747 0.622 0.393 0 5.06 0.677 9.900 0.986 0.974 0.594 1.000 0.715 0.691 0.307 18.078 0.893 Cadherin|Cadherin-like . . 0.0021 0.0007 0.0013 0.0009 0 4.485e-05 0.0035 0.0029 0.0019 0.0014 0.0010 0.0024 0 0 0 0.0021 0.0010 het 736.96 59 5 140773812 . G A 736.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.786;DP=59;Dels=0.00;FS=8.433;HRun=1;HaplotypeScore=1.9153;MQ=58.25;MQ0=0;MQRankSum=1.029;QD=12.49;ReadPosRankSum=0.592;VQSLOD=3.1677;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,27:59:99:767,0,820 5 140799643 140799643 T C exonic PCDHGB7 synonymous SNV PCDHGB7:NM_018927:exon1:c.T2217C:p.G739G,PCDHGB7:NM_032101:exon1:c.T2217C:p.G739G . . . . . . 2.485e-05 0 0 0 0 4.497e-05 0 0 . . . . . rs764381539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.625e-05 0 0 0 0 0 3.581e-05 0 0 . . . . . . . . het 1108.23 103 5 140799643 . T C 1108.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.738;DP=103;Dels=0.00;FS=3.915;HRun=6;HaplotypeScore=3.2938;MQ=59.19;MQ0=0;MQRankSum=-0.214;QD=10.76;ReadPosRankSum=-0.097;VQSLOD=4.1809;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,49:103:99:1138,0,1299 5 141243646 141243646 A G exonic PCDH1 synonymous SNV PCDH1:NM_001278615:exon2:c.T1113C:p.A371A,PCDH1:NM_001278613:exon3:c.T2298C:p.A766A,PCDH1:NM_002587:exon3:c.T2250C:p.A750A,PCDH1:NM_032420:exon3:c.T2250C:p.A750A 0.42 0.29 0.34 0.58 0.35 0.57 0.3915 0.3166 0.3314 0.5616 0.3188 0.3561 0.4357 0.5609 0.34 0.31 0.35 0.46 0.32 rs3797054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3895 0.3136 0.3446 0.4512 0.5638 0.3223 0.3493 0.3838 0.5528 0.3430 0.3125 0.3365 0.4801 0.5755 0.3219 0.3385 0.3368 hom 2348.52 79 5 141243646 . A G 2348.52 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=29.73;VQSLOD=8.9160;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2382,199,0 5 141244356 141244356 C T exonic PCDH1 nonsynonymous SNV PCDH1:NM_001278615:exon2:c.G403A:p.A135T,PCDH1:NM_001278613:exon3:c.G1588A:p.A530T,PCDH1:NM_002587:exon3:c.G1540A:p.A514T,PCDH1:NM_032420:exon3:c.G1540A:p.A514T 0.088 0.025 0.15 0.14 0.066 0.1 0.0867 0.0366 0.1676 0.1421 0.1037 0.0631 0.1004 0.1203 0.052 0.036 0.061 0.15 0.066 rs3822357 COSM4003364;COSM4003363 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.139 0.257 T 0.869 0.506 P 0.322 0.401 B 0.003 0.362 N 0.056 0.588 P -0.395 0.030 N 0.76 0.499 T -0.59 0.176 N 0.016 0.019 -1.075 0.083 T 0.000 0.001 T . . . 2.414 0.351 18.91 0.993 0.575 0.590 0.305 D c -0.215 -0.123 1.000 0.446 0.707 0.730 0 3.87 0.437 2.124 0.414 0.071 0.179 0.946 0.326 0.993 0.574 9.532 0.382 Cadherin|Cadherin-like . . 0.0916 0.0352 0.1650 0.0460 0.1389 0.1016 0.0641 0.0944 0.1194 0.0704 0.0370 0.1376 0.0199 0.1440 0.0979 0.0710 0.0967 het 2279.58 202 5 141244356 . C T 2279.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.866;DP=202;Dels=0.00;FS=4.473;HRun=0;HaplotypeScore=3.8410;MQ=59.66;MQ0=0;MQRankSum=0.741;QD=11.29;ReadPosRankSum=-1.530;VQSLOD=5.0454;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:110,92:202:99:2310,0,2914 5 141307833 141307833 T C exonic KIAA0141 nonsynonymous SNV KIAA0141:NM_001142603:exon4:c.T382C:p.F128L,KIAA0141:NM_014773:exon4:c.T382C:p.F128L 0.16 0.38 0.075 0.0099 0.086 0.14 0.1025 0.3326 0.0575 0.0035 0.0562 0.0831 0.0894 0.1384 0.17 0.33 0.084 0.21 0.11 rs10036567 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.025 0.261 N 1.000 0.090 P -2.125 0.001 N 2.96 0.147 T 1.77 0.013 N 0.022 0.005 -0.927 0.446 T 0.000 0.000 T . . . 0.489 0.141 7.344 0.437 0.033 0.011 0.040 N c -1.031 -0.745 1.000 0.517 0.722 0.854 0 4.75 0.598 1.235 0.321 0.069 0.176 0.910 0.314 0.948 0.423 9.481 0.379 . . . 0.0959 0.3355 0.0641 0.0956 0.0026 0.0555 0.0848 0.0865 0.1348 0.1489 0.3362 0.0859 0.0795 0.0012 0.0613 0.0844 0.1049 het 1748.32 136 5 141307833 . T C 1748.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.027;DP=136;Dels=0.00;FS=5.375;HRun=1;HaplotypeScore=3.1576;MQ=58.86;MQ0=0;MQRankSum=0.805;QD=12.86;ReadPosRankSum=-1.602;VQSLOD=5.0419;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,67:136:99:1778,0,1844 5 141309265 141309265 C T exonic KIAA0141 synonymous SNV KIAA0141:NM_001142603:exon5:c.C531T:p.N177N,KIAA0141:NM_014773:exon5:c.C531T:p.N177N 0.061 0.033 0.045 0.0099 0.086 0.14 0.0757 0.0423 0.0426 0.0035 0.0563 0.0826 0.0776 0.1376 0.07 0.044 0.084 0.076 0.082 rs10078802 COSM4407079 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0752 0.0444 0.0494 0.0955 0.0026 0.0555 0.0842 0.0755 0.1343 0.0673 0.0526 0.0585 0.0795 0.0012 0.0610 0.0830 0.0916 het 1031.98 74 5 141309265 . C T 1031.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.946;DP=74;Dels=0.00;FS=0.941;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.470;QD=13.95;ReadPosRankSum=1.249;VQSLOD=6.2066;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,38:74:99:1062,0,833 5 141324955 141324955 - CTGCTGCTG exonic PCDH12 nonframeshift insertion PCDH12:NM_016580:exon4:c.3545_3546insCAGCAGCAG:p.S1181_R1182insSSS 0.52 0.31 0.58 0.83 0.41 0.57 0.4348 0.2613 0.5894 0.6870 0.3472 0.3723 0.4425 0.5674 0.16 0.12 0.19 0.011 . rs762394243 COSM1063580 1(ovary);3(urinary_tract);1(liver);1(lung);1(large_intestine);3(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3937 0.2779 0.6090 0.4392 0.7875 0.4012 0.4030 0.4221 het 2077.27 57 5 141324955 . C CCTGCTGCTG 2077.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.611;DP=57;FS=3.426;HRun=0;HaplotypeScore=381.1369;MQ=51.19;MQ0=0;MQRankSum=-4.224;QD=35.81;ReadPosRankSum=-0.950;set=variant2 GT:AD:DP:GQ:PL 0/1:41,16:57:99:2116,0,1368 5 141325249 141325249 T C exonic PCDH12 synonymous SNV PCDH12:NM_016580:exon4:c.A3252G:p.P1084P 0.99 1. 0.99 1. 0.97 0.99 0.9840 0.9968 0.9935 0.9999 0.9555 0.9780 0.9868 0.9967 0.99 1. 0.98 1. 0.95 rs105633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9838 0.9971 0.9916 0.9876 0.9999 0.9578 0.9786 0.9774 0.9968 0.9821 0.9959 0.9857 0.9934 1 0.9619 0.9773 0.9684 hom 5006.62 170 5 141325249 . T C 5006.62 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4518;MQ=58.99;MQ0=0;QD=29.45;VQSLOD=7.7762;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:5006,412,0 5 141334921 141334921 C T exonic PCDH12 synonymous SNV PCDH12:NM_016580:exon1:c.G2496A:p.Q832Q 0.12 0.017 0.072 0.27 0.12 0.16 0.1234 0.0375 0.0926 0.2472 0.1372 0.1165 0.1278 0.1569 0.089 0.044 0.11 0.065 0.15 rs2434322 COSM4159586 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1222 0.0366 0.0901 0.1162 0.2415 0.1355 0.1140 0.1194 0.1558 0.1048 0.0376 0.0823 0.1159 0.2497 0.1314 0.1229 0.1090 het 1021.76 94 5 141334921 . C T 1021.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.705;DP=94;Dels=0.00;FS=8.343;HRun=1;HaplotypeScore=0.8941;MQ=59.36;MQ0=0;MQRankSum=-1.398;QD=10.87;ReadPosRankSum=0.374;VQSLOD=4.3145;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,38:94:99:1052,0,1501 5 141335241 141335241 A G exonic PCDH12 synonymous SNV PCDH12:NM_016580:exon1:c.T2176C:p.L726L 0.78 0.94 0.72 0.86 0.58 0.74 0.6519 0.8794 0.7725 0.8253 0.5043 0.5631 0.6419 0.7513 0.66 0.87 0.56 0.74 0.56 rs164073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6445 0.8835 0.7544 0.5523 0.8236 0.5080 0.5587 0.6100 0.7501 0.6625 0.8783 0.7703 0.5331 0.8089 0.5284 0.5534 0.5910 hom 4197.58 133 5 141335241 . A G 4197.58 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5622;MQ=59.44;MQ0=0;QD=31.56;VQSLOD=9.2665;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:133:99:4159,319,0 5 141335284 141335284 G A exonic PCDH12 synonymous SNV PCDH12:NM_016580:exon1:c.C2133T:p.A711A 0.6 0.32 0.66 0.86 0.55 0.7 0.5827 0.3648 0.7316 0.8232 0.4889 0.5359 0.5922 0.7154 0.48 0.37 0.53 0.53 0.47 rs164074 COSM5021484 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5857 0.3663 0.7101 0.5056 0.8230 0.4927 0.5328 0.5629 0.7146 0.5041 0.3741 0.7165 0.4934 0.8083 0.5106 0.5313 0.5399 hom 2957.98 98 5 141335284 . G A 2957.98 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;QD=30.18;VQSLOD=8.7039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:2991,229,0 5 141336264 141336264 G T exonic PCDH12 nonsynonymous SNV PCDH12:NM_016580:exon1:c.C1153A:p.H385N . . . . . . 0.6281 0.8733 0.7535 0.8187 0.4968 0.5281 0.6156 0.7432 0.63 0.86 0.52 0.74 0.52 rs164075 COSM5959151 1(thyroid) . . . . . . . . . . . 0.495 0.079 T 0.0 0.026 B 0.0 0.013 B 0.024 0.263 N 1 0.090 P -0.83 0.015 N 0.77 0.496 T 0.91 0.016 N 0.014 0.003 -1.006 0.281 T 0.000 0.000 T . . . 0.229 0.116 4.982 0.752 0.106 0.016 0.052 N c -1.076 -0.879 1.000 0.480 0.633 0.409 0 2.48 0.291 0.002 0.129 0.152 0.238 0.000 0.063 1.000 0.888 6.324 0.203 Cadherin|Cadherin-like ENSG00000081791.4|ENSG00000081791.4 Cells_Transformed_fibroblasts|Liver 0.6197 0.8768 0.7318 0.5245 0.8158 0.4981 0.5213 0.5802 0.7420 0.6419 0.8719 0.7392 0.5066 0.8010 0.5206 0.5211 0.5692 hom 5411.49 159 5 141336264 . G T 5411.49 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5661;MQ=59.62;MQ0=0;QD=34.03;VQSLOD=9.8093;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5411,430,0 5 141337126 141337126 C T exonic PCDH12 synonymous SNV PCDH12:NM_016580:exon1:c.G291A:p.L97L 0.59 0.35 0.64 0.85 0.51 0.71 0.5627 0.3756 0.7142 0.8172 0.4823 0.5022 0.5706 0.7170 0.45 0.38 0.49 0.52 0.42 rs164076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5636 0.3767 0.6882 0.4790 0.8143 0.4832 0.4960 0.5345 0.7156 0.4871 0.3793 0.6890 0.47 0.7996 0.5026 0.4991 0.5245 hom 3573.41 114 5 141337126 . C T 3573.41 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0961;MQ=57.59;MQ0=0;QD=31.35;VQSLOD=5.4376;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3573,310,0 5 141337225 141337225 A G exonic PCDH12 synonymous SNV PCDH12:NM_016580:exon1:c.T192C:p.A64A 0.75 0.47 0.84 0.97 0.78 0.82 0.8021 0.5068 0.8883 0.9656 0.8091 0.8023 0.8183 0.8370 0.71 0.52 0.8 0.67 0.77 rs164077 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8083 0.5062 0.8772 0.7475 0.9653 0.8130 0.8019 0.7903 0.8374 0.7358 0.5105 0.8628 0.7152 0.9593 0.8197 0.8107 0.8163 hom 5322.20 179 5 141337225 . A G 5322.20 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4905;MQ=59.14;MQ0=0;QD=29.73;VQSLOD=8.0195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5320,472,0 5 141358149 141358149 T C exonic RNF14 synonymous SNV RNF14:NM_183398:exon4:c.T210C:p.N70N,RNF14:NM_183399:exon4:c.T588C:p.N196N,RNF14:NM_183400:exon4:c.T588C:p.N196N,RNF14:NM_001201365:exon5:c.T588C:p.N196N,RNF14:NM_004290:exon5:c.T588C:p.N196N,RNF14:NM_183401:exon5:c.T588C:p.N196N 0.0056 0.0008 0.0043 . 0.019 0.0051 0.0102 0.0032 0.0035 0.0002 0.0215 0.0134 0.0044 0.0069 0.0095 0.0032 0.013 . 0.0082 rs61748697 COSM3761016 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0103 0.0027 0.0046 0.0038 0.0001 0.0199 0.0144 0.0062 0.0067 0.0113 0.0026 0.0024 0.0033 0 0.0169 0.0169 0.0122 het 878.82 61 5 141358149 . T C 878.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.123;DP=61;Dels=0.00;FS=3.665;HRun=1;HaplotypeScore=0.8667;MQ=59.15;MQ0=0;MQRankSum=0.903;QD=14.41;ReadPosRankSum=-0.556;VQSLOD=5.6376;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,32:61:99:909,0,800 5 141391532 141391532 G A exonic GNPDA1 synonymous SNV GNPDA1:NM_005471:exon2:c.C69T:p.R23R 0.54 0.67 0.44 0.62 0.46 0.46 0.4871 0.6288 0.4087 0.6197 0.5003 0.4703 0.5044 0.4451 0.52 0.63 0.46 0.61 0.48 rs164080 COSM149957 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4812 0.6323 0.4091 0.4824 0.6201 0.5040 0.4664 0.4918 0.4416 0.5271 0.6266 0.4281 0.4901 0.6055 0.5029 0.4743 0.5041 het 1239.53 96 5 141391532 . G A 1239.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.080;DP=96;Dels=0.00;FS=3.895;HRun=0;HaplotypeScore=1.7128;MQ=58.79;MQ0=0;MQRankSum=-1.977;QD=12.91;ReadPosRankSum=-0.681;VQSLOD=4.7978;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,47:96:99:1270,0,1355 5 142254679 142254679 A G exonic ARHGAP26 synonymous SNV ARHGAP26:NM_001135608:exon3:c.A255G:p.R85R,ARHGAP26:NM_001349547:exon3:c.A147G:p.R49R,ARHGAP26:NM_015071:exon3:c.A255G:p.R85R 0.67 0.9 0.51 0.86 0.31 0.67 0.4468 0.8040 0.5623 0.8662 0.2909 0.2915 0.4108 0.6127 0.46 0.78 0.3 0.74 0.34 rs185200 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4425 0.8078 0.5459 0.3282 0.8704 0.2961 0.2896 0.3973 0.6136 0.4728 0.8006 0.5084 0.3079 0.8806 0.2917 0.2887 0.3640 het 1913.31 166 5 142254679 . A G 1913.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.742;DP=166;Dels=0.00;FS=0.635;HRun=1;HaplotypeScore=3.5116;MQ=59.38;MQ0=0;MQRankSum=1.584;QD=11.53;ReadPosRankSum=0.182;VQSLOD=6.2248;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,73:166:99:1943,0,2428 5 142421415 142421415 T G exonic ARHGAP26 synonymous SNV ARHGAP26:NM_001135608:exon14:c.T1245G:p.G415G,ARHGAP26:NM_001349547:exon14:c.T1137G:p.G379G,ARHGAP26:NM_015071:exon14:c.T1245G:p.G415G 0.89 1. 0.94 0.51 1. 0.98 0.9619 0.9971 0.9310 0.5729 0.9872 0.9974 0.9667 0.9889 1. 1. 1. 0.88 0.82 rs2270068 COSM5618836 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9518 0.9967 0.9337 0.9936 0.5082 0.9882 0.9985 0.9725 0.9881 0.9698 0.9969 0.9414 1 0.5162 0.9885 0.9983 0.9827 hom 499.75 18 5 142421415 . T G 499.75 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=55.94;MQ0=0;QD=27.76;VQSLOD=8.1229;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:42.12:533,42,0 5 142593652 142593652 C T exonic ARHGAP26 synonymous SNV ARHGAP26:NM_001349547:exon21:c.C1971T:p.N657N,ARHGAP26:NM_001135608:exon22:c.C2190T:p.N730N,ARHGAP26:NM_015071:exon22:c.C2355T:p.N785N 1. 1. 0.99 1. 0.99 1. 0.9938 0.9986 0.9973 0.9998 0.9595 0.9934 0.9889 0.9973 1. 1. 0.99 0.99 0.81 rs258819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9936 0.9991 0.9980 1 0.9999 0.9646 0.9943 0.9953 0.9975 0.9931 0.9993 0.9964 1 1 0.9675 0.9949 0.9876 het 482.22 37 5 142593652 . C T 482.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.573;DP=37;Dels=0.00;FS=3.073;HRun=0;HaplotypeScore=4.6132;MQ=57.83;MQ0=0;MQRankSum=1.540;QD=13.03;ReadPosRankSum=-1.076;VQSLOD=4.2985;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,20:37:99:512,0,371 5 143200053 143200053 C T exonic HMHB1 nonsynonymous SNV HMHB1:NM_021182:exon2:c.C46T:p.H16Y 0.29 0.29 0.33 0.39 0.22 0.23 0.2652 0.2704 0.4325 0.4096 0.2542 0.2295 0.2433 0.2194 0.23 0.26 0.22 0.24 0.25 rs161557 COSM4159592 5(soft_tissue);1(thyroid) . . . . . . . . . . . 0.0 0.912 D 0.021 0.172 B 0.007 0.121 B . . . . . . . . . 0.02 0.623 T -6.0 0.895 D 0.027 0.020 -0.959 0.393 T 0.000 0.000 T . . . -0.260 0.071 0.816 0.622 0.067 0.004 0.018 N c -0.931 -1.018 1.000 0.429 0.554 0.283 0 -2.32 0.063 -0.313 0.081 0.935 0.490 0.000 0.063 0.030 0.147 0.189 0.001 . . . 0.2710 0.2670 0.4171 0.2698 0.4057 0.2514 0.2253 0.2609 0.2208 0.2573 0.2710 0.3852 0.2450 0.3991 0.2522 0.2285 0.2551 het 2930.43 242 5 143200053 . C T 2930.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-11.302;DP=242;Dels=0.00;FS=1.811;HRun=0;HaplotypeScore=2.7603;MQ=58.69;MQ0=0;MQRankSum=2.142;QD=12.11;ReadPosRankSum=-0.345;VQSLOD=5.8585;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:125,117:242:99:2960,0,3353 5 145246085 145246085 T G exonic GRXCR2 nonsynonymous SNV GRXCR2:NM_001080516:exon2:c.A543C:p.L181F 0.75 0.9 0.73 0.73 0.58 0.77 0.6658 0.8504 0.7961 0.7470 0.6397 0.5854 0.6487 0.7521 0.67 0.84 0.58 0.79 0.63 rs2569006 . . . . . . . . . . . . . 0.492 0.079 T 0.0 0.026 B 0.0 0.013 B 0.245 0.156 N 1 0.090 P -1.04 0.011 N 0.43 0.568 T 0.72 0.021 N 0.036 0.016 -0.985 0.338 T 0.000 0.000 T . . . -0.940 0.034 0.021 0.230 0.010 0.006 0.026 N c -1.572 -1.496 0.000 0.065 0.487 0.133 0 0.077 0.137 -0.776 0.047 -0.637 0.042 0.000 0.063 0.001 0.043 6.431 0.209 . . . 0.6682 0.8588 0.7874 0.6505 0.7454 0.6436 0.5786 0.6530 0.7515 0.6846 0.8513 0.7506 0.6656 0.7398 0.6282 0.5964 0.6068 hom 5372.11 172 5 145246085 . T G 5372.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.652;DP=172;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.2740;MQ=59.21;MQ0=0;MQRankSum=-1.088;QD=31.23;ReadPosRankSum=0.101;VQSLOD=7.9598;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,171:172:99:5346,390,0 5 145393364 145393364 C T exonic SH3RF2 nonsynonymous SNV SH3RF2:NM_152550:exon5:c.C799T:p.R267C 0.61 0.4 0.57 0.72 0.63 0.78 0.6182 0.4384 0.5524 0.7029 0.5808 0.6097 0.6553 0.7807 0.55 0.44 0.61 0.63 0.56 rs758037 COSM4159598 1(pancreas);2(thyroid) . . . . . . . . . . . 0.076 0.342 T 0.004 0.112 B 0.0 0.013 B 0.224 0.161 N 1 0.090 P 1.045 0.269 L 3.58 0.046 T -0.38 0.134 N 0.048 0.029 -1.083 0.068 T 0.000 0.000 T . . . 2.423 0.352 18.97 0.980 0.371 0.069 0.128 N c -1.015 -0.973 0.003 0.098 0.554 0.246 0 1.22 0.202 0.788 0.263 0.031 0.150 0.003 0.159 0.312 0.239 5.682 0.169 . ENSG00000133706.13|ENSG00000133706.13|ENSG00000133706.13|ENSG00000133706.13|ENSG00000251556.1 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial|Thyroid|Thyroid 0.6196 0.4321 0.5506 0.7157 0.7023 0.5750 0.6093 0.6394 0.7771 0.5533 0.4394 0.5468 0.7267 0.7155 0.5691 0.5914 0.6111 hom 3961.19 123 5 145393364 . C T 3961.19 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6899;MQ=59.13;MQ0=0;QD=32.20;VQSLOD=7.7088;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3961,307,0 5 145439647 145439647 T C exonic SH3RF2 nonsynonymous SNV SH3RF2:NM_152550:exon9:c.T1774C:p.W592R 0.98 0.93 1. 1. 1. 1. 0.9951 0.9470 0.9974 1 1 0.9999 0.9956 1 0.98 0.95 1. 0.97 0.95 rs2962525 COSM4159600 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.513 N 1 0.090 P -2.585 0.000 N 2.44 0.152 T 3.84 0.001 N 0.169 0.259 -0.994 0.315 T 0.000 0.000 T . . . -1.591 0.015 0.002 0.263 0.013 0.221 0.214 N c -1.400 -1.155 0.697 0.226 0.516 0.203 0 3.16 0.353 0.788 0.263 -1.080 0.019 1.000 0.715 0.001 0.043 8.447 0.318 . . . 0.9960 0.9445 0.9970 1 0.9998 1 0.9999 0.9978 1 0.9848 0.9466 0.9976 1 1 1 1 0.9980 hom 2802.05 90 5 145439647 . T C 2802.05 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9578;MQ=59.44;MQ0=0;QD=31.13;VQSLOD=8.6711;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:90:99:2835,232,0 5 145442203 145442203 G C exonic SH3RF2 nonsynonymous SNV SH3RF2:NM_152550:exon10:c.G2129C:p.G710A 0.63 0.46 0.59 0.72 0.65 0.78 0.6263 0.4794 0.5545 0.6953 0.5857 0.6186 0.6509 0.7784 0.57 0.48 0.62 0.67 0.59 rs1056149 COSM4159601 1(pancreas);1(thyroid) . . . . . . . . . . . 0.246 0.173 T 0.004 0.112 B 0.005 0.104 B 0.648 0.105 N 0.923 0.272 P 1.575 0.398 L 2.36 0.161 T -0.46 0.150 N 0.037 0.061 -1.006 0.281 T 0.000 0.000 T . . . 0.493 0.141 7.374 0.812 0.131 0.452 0.273 N c -0.602 -0.411 0.023 0.135 0.516 0.203 0 3.5 0.390 2.751 0.469 0.902 0.416 0.990 0.367 0.787 0.332 12.229 0.536 . ENSG00000133706.13|ENSG00000133706.13|ENSG00000133706.13|ENSG00000133706.13|ENSG00000251556.1 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial|Thyroid|Thyroid 0.6269 0.4748 0.5529 0.7103 0.6931 0.5803 0.6198 0.6408 0.7759 0.5724 0.4863 0.5382 0.7467 0.7002 0.5761 0.6034 0.6168 hom 3061.32 94 5 145442203 . G C 3061.32 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5221;MQ=59.51;MQ0=0;QD=32.57;VQSLOD=8.5738;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3094,241,0 5 145506100 145506100 G A exonic LARS synonymous SNV LARS:NM_001317964:exon27:c.C2751T:p.N917N,LARS:NM_001317965:exon27:c.C2727T:p.N909N,LARS:NM_016460:exon27:c.C2808T:p.N936N,LARS:NM_020117:exon28:c.C2889T:p.N963N 0.043 0.058 0.032 . 0.073 0.042 0.0584 0.0613 0.0405 0.0001 0.0511 0.0741 0.0697 0.0382 0.068 0.055 0.075 0.054 0.082 rs11540216 . . Benign not_specified RCV000126598.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0573 0.0616 0.0382 0.1347 0.0002 0.0511 0.0705 0.0695 0.0383 0.0561 0.0622 0.0431 0.0927 0.0006 0.0476 0.0613 0.0448 het 470.84 37 5 145506100 . G A 470.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.15;MQ0=0;MQRankSum=-0.593;QD=12.73;ReadPosRankSum=1.565;VQSLOD=6.4579;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,18:37:99:501,0,546 5 145650597 145650597 A G exonic RBM27 synonymous SNV RBM27:NM_018989:exon18:c.A2772G:p.K924K 0.16 0.5 0.062 . 0.072 0.042 0.0906 0.4128 0.0564 0.0001 0.0518 0.0778 0.0895 0.0383 0.18 0.41 0.077 0.17 0.12 rs17104362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0844 0.4221 0.0553 0.1506 0.0002 0.0520 0.0732 0.0873 0.0392 0.1581 0.4178 0.0680 0.11 0.0012 0.0478 0.0624 0.0602 het 894.11 80 5 145650597 . A G 894.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.261;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=-0.241;QD=11.18;ReadPosRankSum=-0.347;VQSLOD=6.5935;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,39:80:99:924,0,1025 5 145718765 145718765 C T exonic POU4F3 synonymous SNV POU4F3:NM_002700:exon1:c.C90T:p.A30A 0.018 0.003 0.033 . 0.054 0.0082 0.0309 0.0073 0.0370 0 0.0288 0.0424 0.0363 0.0119 0.03 0.0057 0.042 . 0.057 rs28994879 . . Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037585.3|RCV000378277.1 MedGen|MedGen CN169374|CN239435 . . . . . . . . . . . . . . . . . . 1 0.810 D . . . . . . . . . . . . . . . . . . . . 3.206 0.445 22.7 0.941 0.237 0.680 0.334 D n 1.653 1.642 0.997 0.354 0.598 0.340 0 3.28 0.365 -0.100 0.109 0.934 0.450 0.718 0.286 1.000 0.888 8.870 0.343 . . . 0.0315 0.0070 0.0325 0.0849 5.798e-05 0.0283 0.0400 0.0445 0.0123 0.0249 0.0082 0.0370 0.0762 0 0.0269 0.0353 0.0204 het 1416.26 128 5 145718765 . C T 1416.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.256;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7859;MQ=59.49;MQ0=0;MQRankSum=0.176;QD=11.06;ReadPosRankSum=-0.495;VQSLOD=6.2267;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,54:128:99:1446,0,2120 5 145890028 145890028 A G exonic TCERG1 synonymous SNV TCERG1:NM_001040006:exon21:c.A3057G:p.S1019S,TCERG1:NM_006706:exon22:c.A3120G:p.S1040S 0.98 1. 0.97 1. 0.93 0.99 0.9622 0.9886 0.9774 0.9998 0.9678 0.9447 0.9603 0.9842 0.96 0.99 0.94 1. 0.89 rs4705103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9624 0.9880 0.9742 0.9681 0.9997 0.9653 0.9433 0.9565 0.9827 0.9626 0.9859 0.9725 0.9603 0.9994 0.9648 0.9444 0.9572 hom 1805.39 60 5 145890028 . A G 1805.39 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55.62;MQ0=0;QD=30.09;VQSLOD=6.4000;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1838,153,0 5 145894896 145894896 G C exonic GPR151 nonsynonymous SNV GPR151:NM_194251:exon1:c.C781G:p.L261V 0.34 0.25 0.18 0.77 0.2 0.29 0.2601 0.2445 0.1952 0.7770 0.2563 0.1991 0.2489 0.2932 0.21 0.23 0.2 0.38 0.2 rs7709485 COSM4407146 1(liver) . . . . . . . . . . . 0.741 0.037 T 0.002 0.090 B 0.011 0.145 B 0.004 0.339 N 1 0.090 P 0.55 0.145 N 1.19 0.376 T -0.87 0.236 N 0.04 0.020 -0.988 0.330 T 0.000 0.000 T . . . -2.848 0.002 0.001 0.620 0.067 0.058 0.116 N c -1.212 -1.247 0.003 0.099 0.010 0.001 3 -1.58 0.080 0.034 0.136 -0.336 0.073 0.007 0.175 0.296 0.236 9.167 0.360 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2585 0.2459 0.1933 0.2053 0.7714 0.2446 0.2001 0.2284 0.2927 0.2512 0.2543 0.1730 0.2086 0.7844 0.2364 0.2024 0.2265 het 1283.32 111 5 145894896 . G C 1283.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.193;DP=111;Dels=0.00;FS=5.908;HRun=0;HaplotypeScore=2.8553;MQ=58.82;MQ0=0;MQRankSum=1.313;QD=11.56;ReadPosRankSum=0.797;VQSLOD=4.8670;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,50:111:99:1313,0,1760 5 146619206 146619206 G C exonic STK32A synonymous SNV STK32A:NM_001112724:exon2:c.G9C:p.A3A,STK32A:NM_001287740:exon2:c.G9C:p.A3A,STK32A:NM_145001:exon2:c.G9C:p.A3A 0.52 0.64 0.73 0.31 0.56 0.38 0.5673 0.6373 0.8179 0.3595 0.5673 0.5696 0.5687 0.4347 0.58 0.63 0.56 0.55 . rs4705132 COSM4407097;COSM4407098 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5569 0.6262 0.7964 0.6214 0.3334 0.5484 0.5473 0.5768 0.3994 0.5735 0.6328 0.7566 0.6192 0.3734 0.5527 0.5544 0.5713 het 164.74 14 5 146619206 . G C 164.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.299;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.421;QD=11.77;ReadPosRankSum=0.068;VQSLOD=11.9683;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:195,0,168 5 147012291 147012291 G A exonic JAKMIP2 synonymous SNV JAKMIP2:NM_001270934:exon12:c.C1665T:p.D555D,JAKMIP2:NM_001282282:exon12:c.C1602T:p.D534D,JAKMIP2:NM_001270941:exon13:c.C1728T:p.D576D,JAKMIP2:NM_014790:exon13:c.C1728T:p.D576D 0.16 0.021 0.22 0.21 0.16 0.24 0.1597 0.0370 0.2391 0.2272 0.1149 0.1311 0.1700 0.2794 0.1 0.039 0.13 0.13 0.09 rs3763094 COSM3761021;COSM3761020 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1674 0.0367 0.2382 0.2343 0.2325 0.1140 0.1272 0.1767 0.2806 0.1035 0.0406 0.2261 0.2252 0.2450 0.1007 0.1157 0.1133 het 3009.43 245 5 147012291 . G A 3009.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.827;DP=245;DS;Dels=0.00;FS=0.467;HRun=0;HaplotypeScore=2.5648;MQ=59.23;MQ0=0;MQRankSum=-0.140;QD=12.28;ReadPosRankSum=-0.309;VQSLOD=5.9536;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,122:245:99:3039,0,3164 5 147024476 147024476 C A exonic JAKMIP2 synonymous SNV JAKMIP2:NM_001282282:exon5:c.G894T:p.L298L,JAKMIP2:NM_001270934:exon6:c.G1020T:p.L340L,JAKMIP2:NM_001270941:exon6:c.G1020T:p.L340L,JAKMIP2:NM_014790:exon6:c.G1020T:p.L340L . . . . . . 0.1356 0.4187 0.2158 0.3519 0.0681 0.0449 0.1244 0.1815 0.17 0.41 0.044 0.3 0.049 rs2116766 COSM5619091;COSM5619090 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1319 0.4200 0.2106 0.0932 0.3518 0.0666 0.0405 0.1103 0.1781 0.1748 0.4250 0.2005 0.0861 0.3586 0.0622 0.0415 0.0980 het 1851.13 155 5 147024476 . C A 1851.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.611;DP=155;Dels=0.00;FS=5.864;HRun=1;HaplotypeScore=2.7062;MQ=59.64;MQ0=0;MQRankSum=0.707;QD=11.94;ReadPosRankSum=0.836;VQSLOD=5.3747;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,75:155:99:1881,0,2169 5 147024509 147024509 C T exonic JAKMIP2 synonymous SNV JAKMIP2:NM_001282282:exon5:c.G861A:p.R287R,JAKMIP2:NM_001270934:exon6:c.G987A:p.R329R,JAKMIP2:NM_001270941:exon6:c.G987A:p.R329R,JAKMIP2:NM_014790:exon6:c.G987A:p.R329R 0.37 0.51 0.36 0.47 0.16 0.28 0.2342 0.4363 0.4022 0.4805 0.1306 0.1374 0.2203 0.2937 0.24 0.43 0.14 0.37 0.11 rs2116765 COSM4003373;COSM4003372 1(breast);1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2377 0.4356 0.3936 0.2418 0.4834 0.1347 0.1331 0.2192 0.2926 0.2429 0.4435 0.3449 0.2285 0.5143 0.1285 0.1241 0.1585 het 1637.13 140 5 147024509 . C T 1637.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.803;DP=140;Dels=0.00;FS=3.079;HRun=2;HaplotypeScore=3.9894;MQ=59.84;MQ0=0;MQRankSum=0.548;QD=11.69;ReadPosRankSum=-2.135;VQSLOD=4.8931;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,63:140:99:1667,0,2055 5 147286054 147286054 G A exonic C5orf46 nonsynonymous SNV C5orf46:NM_206966:exon1:c.C11T:p.S4L 0.48 0.18 0.47 0.62 0.62 0.61 0.5600 0.2270 0.4567 0.6157 0.6531 0.5982 0.5730 0.6165 0.46 0.23 0.58 0.38 0.5 rs2250145 COSM4419159 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.119 0.280 T 1.0 0.899 D 0.998 0.875 D 0.001 0.392 N 0.379 0.327 P . . . 0.37 0.577 T -5.0 0.823 D 0.331 0.432 -0.835 0.530 T 0.000 0.000 T . . . 4.995 0.672 25.1 0.997 0.820 0.680 0.334 D c 0.593 0.575 1.0 0.983 0.487 0.133 0 4.88 0.630 4.242 0.583 1.048 0.713 0.999 0.424 0.945 0.419 13.750 0.622 . ENSG00000164265.4 Whole_Blood 0.5584 0.2217 0.4549 0.5535 0.6151 0.6578 0.5923 0.5614 0.6123 0.4974 0.2264 0.4892 0.5099 0.6230 0.6551 0.5985 0.5949 hom 2599.07 89 5 147286054 . G A 2599.07 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.331;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9950;MQ=59.74;MQ0=0;MQRankSum=1.693;QD=29.20;ReadPosRankSum=1.265;VQSLOD=7.4697;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,88:89:99:2632,174,0 5 147475386 147475386 A G exonic SPINK5 nonsynonymous SNV SPINK5:NM_001127698:exon10:c.A800G:p.Q267R,SPINK5:NM_001127699:exon10:c.A800G:p.Q267R,SPINK5:NM_006846:exon10:c.A800G:p.Q267R 0.51 0.47 0.65 0.48 0.49 0.51 0.5213 0.4604 0.7280 0.4866 0.5318 0.5064 0.5011 0.4895 0.49 0.46 0.51 0.48 0.45 rs6892205 COSM4003378;COSM4003377 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Netherton_syndrome RCV000253065.1|RCV000350117.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265962:256500:ORPHA634 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.242 0.036 N 1 0.090 P -0.595 0.022 N 3.74 0.040 T 0.09 0.076 N 0.005 0.056 -0.968 0.377 T 0.000 0.000 T . . . -3.122 0.001 0.001 0.117 0.002 0.001 0.007 N c -2.276 -2.333 1.000 0.446 0.615 0.372 0 -7.64 0.011 -3.981 0.004 -2.001 0.005 0.000 0.063 0.001 0.043 16.378 0.832 Kazal domain ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Stomach|Thyroid 0.5320 0.4590 0.7085 0.4563 0.4775 0.5462 0.5139 0.5363 0.4856 0.4976 0.4605 0.6823 0.4371 0.4769 0.5468 0.5 0.5103 het 370.95 46 5 147475386 . A G 370.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.555;DP=46;Dels=0.00;FS=1.197;HRun=1;HaplotypeScore=1.9992;MQ=57.97;MQ0=0;MQRankSum=0.799;QD=8.06;ReadPosRankSum=-0.281;VQSLOD=4.7944;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,18:46:99:401,0,697 5 147477551 147477551 C T exonic SPINK5 nonsynonymous SNV SPINK5:NM_001127698:exon11:c.C1004T:p.A335V,SPINK5:NM_001127699:exon11:c.C1004T:p.A335V,SPINK5:NM_006846:exon11:c.C1004T:p.A335V 0.45 0.25 0.63 0.48 0.48 0.51 0.5070 0.2960 0.7220 0.4851 0.5312 0.5060 0.4978 0.4896 0.44 0.3 0.51 0.42 0.5 rs34482796 . . Benign|Benign not_specified|Netherton_syndrome RCV000247440.1|RCV000346513.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265962:256500:ORPHA634 . . . . . . 0.23 0.210 T 0.009 0.163 B 0.019 0.233 B 0.031 0.252 N 0.999 0.260 P 1.89 0.503 L 3.51 0.050 T -1.22 0.336 N 0.075 0.421 -1.019 0.239 T 0.000 0.000 T . . . 3.495 0.478 23.1 0.871 0.164 0.497 0.282 N c -0.694 -0.566 0.007 0.113 0.615 0.372 0 2.65 0.305 0.365 0.199 -0.390 0.064 0.996 0.391 0.939 0.413 7.800 0.282 Kazal domain ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Stomach|Thyroid 0.5201 0.2928 0.7013 0.4564 0.4762 0.5459 0.5131 0.5307 0.4852 0.4489 0.2901 0.6699 0.4371 0.4810 0.5465 0.4998 0.5020 het 549.37 53 5 147477551 . C T 549.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.513;DP=53;Dels=0.00;FS=9.496;HRun=0;HaplotypeScore=0.7887;MQ=56.31;MQ0=0;MQRankSum=1.534;QD=10.37;ReadPosRankSum=0.547;VQSLOD=2.3438;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,23:53:99:579,0,781 5 147480112 147480112 T C exonic SPINK5 synonymous SNV SPINK5:NM_001127698:exon13:c.T1188C:p.H396H,SPINK5:NM_001127699:exon13:c.T1188C:p.H396H,SPINK5:NM_006846:exon13:c.T1188C:p.H396H 0.43 0.2 0.62 0.49 0.49 0.51 0.5072 0.2425 0.7202 0.4827 0.5345 0.5136 0.4967 0.4919 0.43 0.25 0.51 0.4 0.54 rs2303065 COSM4003381;COSM149970 1(stomach);1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Netherton_syndrome RCV000243483.1|RCV000358416.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265962:256500:ORPHA634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5206 0.2386 0.6998 0.4611 0.4741 0.5504 0.5205 0.5333 0.4874 0.4363 0.2335 0.6706 0.4467 0.4735 0.5510 0.5058 0.5051 het 2305.61 172 5 147480112 . T C 2305.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.922;DP=172;Dels=0.00;FS=6.767;HRun=0;HaplotypeScore=6.8630;MQ=58.66;MQ0=0;MQRankSum=-0.650;QD=13.40;ReadPosRankSum=0.762;VQSLOD=3.6025;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,100:172:99:2336,0,1788 5 147480955 147480955 A G exonic SPINK5 nonsynonymous SNV SPINK5:NM_001127698:exon14:c.A1258G:p.K420E,SPINK5:NM_001127699:exon14:c.A1258G:p.K420E,SPINK5:NM_006846:exon14:c.A1258G:p.K420E 0.43 0.2 0.62 0.49 0.49 0.51 0.5079 0.2433 0.7208 0.4843 0.5352 0.5144 0.4966 0.4920 0.43 0.26 0.51 0.4 0.54 rs2303067 COSM4003383;COSM4003382 2(haematopoietic_and_lymphoid_tissue) other|other|other|Benign|Benign Atopy\x2c_susceptibility_to|Dermatitis\x2c_atopic\x2c_6\x2c_susceptibility_to|Asthma\x2c_susceptibility_to|not_specified|Netherton_syndrome RCV000005585.2|RCV000005586.2|RCV000005587.2|RCV000248431.2|RCV000299337.1 MedGen:OMIM|MedGen|MedGen:OMIM:Orphanet C1869116:600807|CN169374|C0265962:256500:ORPHA634 . . . . . . 0.949 0.021 T 0.0 0.026 B 0.001 0.080 B 0.838 0.070 N 1.000 0.090 P -0.805 0.016 N 3.8 0.038 T 1.0 0.020 N 0.113 0.285 -0.952 0.406 T 0.000 0.000 T . . . 0.553 0.147 7.826 0.259 0.012 0.001 0.006 N c -1.292 -1.127 0.008 0.117 0.615 0.372 0 2.84 0.321 0.253 0.179 0.037 0.153 0.120 0.230 0.635 0.295 4.719 0.122 Kazal domain ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11|ENSG00000133710.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Stomach|Thyroid 0.5209 0.2385 0.6999 0.4612 0.4740 0.5511 0.5208 0.5335 0.4874 0.4362 0.2336 0.6722 0.4437 0.4722 0.5516 0.5057 0.5061 het 1576.20 125 5 147480955 . A G 1576.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.532;DP=125;Dels=0.00;FS=6.737;HRun=0;HaplotypeScore=2.7067;MQ=59.40;MQ0=0;MQRankSum=1.464;QD=12.61;ReadPosRankSum=0.694;VQSLOD=4.9822;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,64:125:99:1606,0,1486 5 147481430 147481430 A G exonic SPINK5 synonymous SNV SPINK5:NM_001127698:exon15:c.A1389G:p.G463G,SPINK5:NM_001127699:exon15:c.A1389G:p.G463G,SPINK5:NM_006846:exon15:c.A1389G:p.G463G 0.43 0.2 0.62 0.49 0.49 0.51 0.5076 0.2424 0.7208 0.4841 0.5351 0.5139 0.4989 0.4919 0.43 0.25 0.51 0.4 0.54 rs6896303 COSM4003384;COSM149971 1(breast);2(haematopoietic_and_lymphoid_tissue);1(stomach) Benign|Benign not_specified|Netherton_syndrome RCV000250366.1|RCV000259308.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265962:256500:ORPHA634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5209 0.2386 0.7001 0.4611 0.4744 0.5506 0.5208 0.5340 0.4876 0.4361 0.2333 0.6715 0.4437 0.4766 0.5510 0.5052 0.5041 het 1943.94 116 5 147481430 . A G 1943.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.749;DP=116;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8656;MQ=58.16;MQ0=0;MQRankSum=0.970;QD=16.76;ReadPosRankSum=-0.135;VQSLOD=4.3115;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,71:116:99:1974,0,1098 5 147486677 147486677 C A exonic SPINK5 synonymous SNV SPINK5:NM_001127698:exon17:c.C1557A:p.G519G,SPINK5:NM_001127699:exon17:c.C1557A:p.G519G,SPINK5:NM_006846:exon17:c.C1557A:p.G519G 0.43 0.19 0.62 0.48 0.49 0.51 0.5061 0.2318 0.7204 0.4843 0.5331 0.5131 0.4956 0.4918 0.42 0.24 0.51 0.4 0.52 rs880687 COSM149972;COSM4003385 1(stomach);1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Netherton_syndrome RCV000253690.1|RCV000275565.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265962:256500:ORPHA634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5197 0.2278 0.6995 0.4610 0.4741 0.5485 0.5205 0.5325 0.4874 0.4337 0.2254 0.6699 0.4467 0.4774 0.5485 0.5053 0.5010 het 2714.19 218 5 147486677 . C A 2714.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.481;DP=218;Dels=0.00;FS=1.795;HRun=0;HaplotypeScore=4.1950;MQ=59.30;MQ0=0;MQRankSum=0.321;QD=12.45;ReadPosRankSum=0.869;VQSLOD=6.0754;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,104:218:99:2744,0,3094 5 147488367 147488367 C T exonic SPINK5 synonymous SNV SPINK5:NM_001127698:exon18:c.C1659T:p.V553V,SPINK5:NM_001127699:exon18:c.C1659T:p.V553V,SPINK5:NM_006846:exon18:c.C1659T:p.V553V 0.6 0.81 0.67 0.49 0.49 0.51 0.5527 0.7617 0.7446 0.4830 0.5331 0.5150 0.5223 0.4925 0.6 0.76 0.52 0.65 . rs2303071 COSM449063;COSM149973 1(haematopoietic_and_lymphoid_tissue);1(stomach) Benign|Benign not_specified|Netherton_syndrome RCV000175321.2|RCV000345642.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265962:256500:ORPHA634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5587 0.7624 0.7271 0.4716 0.4744 0.5486 0.5215 0.5558 0.4883 0.5870 0.7573 0.7129 0.4470 0.4761 0.5490 0.5079 0.5340 het 1369.10 121 5 147488367 . C T 1369.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.572;DP=121;Dels=0.00;FS=1.500;HRun=1;HaplotypeScore=5.1865;MQ=58.20;MQ0=0;MQRankSum=0.172;QD=11.31;ReadPosRankSum=-0.220;VQSLOD=5.2462;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,52:121:99:1399,0,1713 5 147498019 147498019 G A exonic SPINK5 nonsynonymous SNV SPINK5:NM_001127698:exon23:c.G2132A:p.R711Q,SPINK5:NM_001127699:exon23:c.G2132A:p.R711Q,SPINK5:NM_006846:exon23:c.G2132A:p.R711Q 0.49 0.31 0.63 0.48 0.59 0.52 0.5830 0.3518 0.7540 0.4685 0.6343 0.6157 0.5578 0.5087 0.54 0.38 0.62 0.56 0.7 rs3777134 COSM4003386;COSM149974 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);1(prostate);2(large_intestine) Benign|Benign not_specified|Netherton_syndrome RCV000247596.1|RCV000338362.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265962:256500:ORPHA634 . . . . . . 0.174 0.302 T 0.474 0.364 P 0.052 0.294 B 0.490 0.121 N 1 0.090 P 1.66 0.426 L 3.26 0.067 T -1.0 0.275 N 0.066 0.185 -1.085 0.065 T 0.000 0.000 T . . . 3.186 0.442 22.7 0.936 0.229 0.057 0.115 N c -0.851 -0.852 0.010 0.119 0.615 0.372 0 2.99 0.335 1.177 0.314 -0.232 0.094 0.005 0.169 0.021 0.135 8.587 0.326 Kazal domain ENSG00000133710.11|ENSG00000178172.2 Adipose_Subcutaneous|Esophagus_Mucosa 0.5939 0.3500 0.7405 0.5472 0.4607 0.6427 0.6220 0.6046 0.5049 0.5415 0.3526 0.7129 0.5265 0.4664 0.6382 0.6240 0.5967 het 1911 146 5 147498019 . G A 1911 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.537;DP=146;Dels=0.00;FS=2.993;HRun=0;HaplotypeScore=3.7515;MQ=59.62;MQ0=0;MQRankSum=-0.687;QD=13.09;ReadPosRankSum=0.393;VQSLOD=5.8367;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,72:146:99:1941,0,1825 5 147499616 147499616 C T exonic SPINK5 synonymous SNV SPINK5:NM_001127698:exon25:c.C2358T:p.L786L,SPINK5:NM_001127699:exon25:c.C2358T:p.L786L,SPINK5:NM_006846:exon25:c.C2358T:p.L786L 0.49 0.31 0.63 0.48 0.59 0.52 0.5829 0.3523 0.7542 0.4659 0.6348 0.6157 0.5592 0.5089 0.54 0.37 0.62 0.56 0.7 rs17704908 COSM4003388;COSM4003387 2(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Benign not_specified|Netherton_syndrome RCV000250545.1|RCV000402422.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265962:256500:ORPHA634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5935 0.3495 0.7404 0.5472 0.4597 0.6426 0.6217 0.6039 0.5047 0.5415 0.3527 0.7112 0.5232 0.4658 0.6382 0.6240 0.5971 het 623.59 57 5 147499616 . C T 623.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.337;DP=57;Dels=0.00;FS=3.875;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=1.262;QD=10.94;ReadPosRankSum=-0.330;VQSLOD=6.1203;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,25:57:99:654,0,923 5 147499670 147499670 C T exonic SPINK5 synonymous SNV SPINK5:NM_001127698:exon25:c.C2412T:p.G804G,SPINK5:NM_001127699:exon25:c.C2412T:p.G804G,SPINK5:NM_006846:exon25:c.C2412T:p.G804G 0.49 0.31 0.63 0.48 0.59 0.52 0.5825 0.3515 0.7533 0.4669 0.6339 0.6153 0.5578 0.5085 0.54 0.37 0.62 0.56 0.7 rs33920397 COSM149975;COSM4003389 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Benign not_specified|Netherton_syndrome RCV000242523.1|RCV000367051.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265962:256500:ORPHA634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5936 0.3496 0.7403 0.5472 0.4601 0.6425 0.6218 0.6045 0.5048 0.5416 0.3524 0.7112 0.5232 0.4663 0.6382 0.6244 0.5961 het 944.87 91 5 147499670 . C T 944.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.874;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=59.11;MQ0=0;MQRankSum=-0.450;QD=10.38;ReadPosRankSum=-0.267;VQSLOD=5.7519;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,42:91:99:975,0,1307 5 147505116 147505116 G A exonic SPINK5 synonymous SNV SPINK5:NM_001127698:exon29:c.G2769A:p.A923A 0.45 0.19 0.62 0.48 0.59 0.52 0.5748 0.2495 0.7493 0.4711 0.6354 0.6156 0.5548 0.5101 0.51 0.26 0.61 0.46 . rs3764930 COSM4003390 1(haematopoietic_and_lymphoid_tissue);1(liver) Benign not_specified RCV000454983.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5855 0.2444 0.7338 0.5371 0.4606 0.6430 0.6213 0.5980 0.5046 0.5114 0.2466 0.7050 0.5199 0.4659 0.6382 0.6243 0.5918 het 962.34 54 5 147505116 . G A 962.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.214;DP=54;Dels=0.00;FS=6.221;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.304;QD=17.82;ReadPosRankSum=-2.572;VQSLOD=3.7501;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,35:54:99:992,0,431 5 147510866 147510866 T C exonic SPINK5 synonymous SNV SPINK5:NM_006846:exon31:c.T3009C:p.G1003G,SPINK5:NM_001127698:exon32:c.T3099C:p.G1033G 0.51 0.39 0.64 0.48 0.59 0.52 0.5888 0.4194 0.7572 0.4692 0.6345 0.6159 0.5633 0.5075 0.56 0.44 0.62 0.58 0.73 rs2400478 COSM149978;COSM149977 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver) Benign|Benign not_specified|Netherton_syndrome RCV000243537.1|RCV000351049.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0265962:256500:ORPHA634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5987 0.4189 0.7450 0.5474 0.4608 0.6430 0.6222 0.6068 0.5034 0.5618 0.4234 0.7153 0.5232 0.4641 0.6384 0.6244 0.6039 het 3051.24 224 5 147510866 . T C 3051.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.628;DP=224;Dels=0.00;FS=7.489;HRun=0;HaplotypeScore=2.6520;MQ=59.43;MQ0=0;MQRankSum=1.060;QD=13.62;ReadPosRankSum=-0.296;VQSLOD=4.9948;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,113:224:99:3081,0,2911 5 147593497 147593497 C A exonic SPINK6 nonsynonymous SNV SPINK6:NM_205841:exon3:c.C106A:p.P36T,SPINK6:NM_001195290:exon4:c.C106A:p.P36T 0.68 0.25 0.88 0.7 0.92 0.85 0.8441 0.3647 0.9004 0.7007 0.9019 0.9205 0.8932 0.8467 0.74 0.38 0.92 0.54 0.87 rs12186491 COSM4003391 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.196 0.207 T 1.0 0.899 D 0.999 0.916 D 0.000 0.629 D 0.044 0.380 P . . . -1.26 0.792 T -7.05 0.938 D 0.174 0.360 -0.934 0.436 T 0.000 0.000 T . . . 4.043 0.543 23.7 0.963 0.289 0.170 0.195 N c 0.374 0.306 0.598 0.217 0.500 0.196 0 5.75 0.904 1.655 0.367 0.935 0.490 0.041 0.208 0.993 0.574 15.818 0.783 Kazal domain . . 0.8551 0.3573 0.8954 0.8732 0.6988 0.902 0.9249 0.8878 0.8473 0.7452 0.3702 0.8890 0.8411 0.6963 0.8952 0.9151 0.8666 hom 5933.58 213 5 147593497 . C A 5933.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.716;DP=213;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3503;MQ=59.50;MQ0=0;MQRankSum=-0.539;QD=27.73;ReadPosRankSum=-1.258;VQSLOD=6.8693;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,211:213:99:5933,454,0 5 148206440 148206440 G A exonic ADRB2 nonsynonymous SNV ADRB2:NM_000024:exon1:c.G46A:p.G16R 0.48 0.52 0.46 0.55 0.39 0.45 0.4204 0.4933 0.4203 0.5480 0.4460 0.3810 0.4333 0.4560 0.41 0.49 0.38 0.45 0.33 rs1042713 COSM4003392 1(haematopoietic_and_lymphoid_tissue);2(thyroid) other|other\x2cdrug response|drug response Asthma\x2c_nocturnal\x2c_susceptibility_to|Metabolic_syndrome\x2c_susceptibility_to\x2csalbutamol_response_-_Efficacy|salmeterol_response_-_Efficacy RCV000019316.2|RCV000019317.2\x2cRCV000211205.1|RCV000211334.1 .\x2cMedGen|MedGen .\x2cCN236579|CN236580 . . . . . . 0.348 0.124 T 0.043 0.202 B 0.032 0.208 B 0.749 0.097 N 1 0.090 P 0.895 0.225 L -0.17 0.656 T -0.36 0.131 N 0.326 0.387 -0.920 0.456 T 0.000 0.000 T . . . 0.606 0.152 8.198 0.978 0.357 0.108 0.160 N c -0.630 -0.576 1.000 0.747 0.437 0.062 0 3.73 0.418 1.807 0.383 1.032 0.654 0.014 0.188 0.729 0.316 8.214 0.305 . . . 0.4208 0.4940 0.4331 0.4381 0.5634 0.4359 0.3721 0.4150 0.4521 0.4274 0.4855 0.4415 0.4233 0.5742 0.4351 0.3768 0.4027 hom 3891 118 5 148206440 . G A 3891 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5245;MQ=59.06;MQ0=0;QD=32.97;VQSLOD=5.1939;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3890,319,0 5 148206473 148206473 G C exonic ADRB2 nonsynonymous SNV ADRB2:NM_000024:exon1:c.G79C:p.E27Q 0.8 0.86 0.76 0.93 0.59 0.81 0.6834 0.8223 0.8342 0.9103 0.6276 0.5850 0.6894 0.7908 0.66 0.82 0.58 0.69 0.54 rs1042714 COSM4159614 1(thyroid) other|other|other Asthma\x2c_childhood\x2c_susceptibility_to|Metabolic_syndrome\x2c_susceptibility_to|Obesity RCV000019318.2|RCV000019319.2|RCV000033191.2 MedGen:OMIM:Orphanet:SNOMED_CT C0028754:601665:ORPHA71529:414916001 . . . . . . 0.413 0.100 T 0.009 0.139 B 0.009 0.133 B 0.133 0.186 N 1 0.090 P 1.04 0.263 L 1.19 0.376 T 0.5 0.030 N 0.194 0.238 -1.012 0.262 T 0.000 0.000 T . . . -0.195 0.076 1.122 0.771 0.113 0.347 0.249 N c -0.489 -0.343 1.000 0.747 0.455 0.088 0 4.04 0.461 1.441 0.344 1.032 0.654 0.928 0.320 0.928 0.402 11.190 0.477 . . . 0.6827 0.8229 0.8275 0.6483 0.9086 0.6144 0.5729 0.6685 0.7898 0.6702 0.8119 0.7959 0.6424 0.8994 0.6205 0.5690 0.6538 hom 4720.44 140 5 148206473 . G C 4720.44 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.683;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6828;MQ=59.51;MQ0=0;MQRankSum=-0.495;QD=33.72;ReadPosRankSum=0.520;VQSLOD=9.7168;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,139:140:99:4720,361,0 5 148207447 148207447 G C exonic ADRB2 synonymous SNV ADRB2:NM_000024:exon1:c.G1053C:p.G351G 0.37 0.35 0.35 0.48 0.28 0.41 0.3379 0.3522 0.4569 0.4570 0.2614 0.2950 0.3315 0.3875 0.31 0.35 0.29 0.28 0.29 rs1042719 COSM3812433 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3358 0.3502 0.4429 0.2961 0.4451 0.2581 0.2889 0.3322 0.3905 0.3134 0.3489 0.4200 0.2914 0.4147 0.2646 0.2867 0.3276 het 732.53 73 5 148207447 . G C 732.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.029;DP=73;Dels=0.00;FS=0.922;HRun=0;HaplotypeScore=2.6630;MQ=59.17;MQ0=0;MQRankSum=-0.006;QD=10.03;ReadPosRankSum=0.646;VQSLOD=6.2632;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,27:73:99:763,0,1421 5 148207633 148207633 G A exonic ADRB2 synonymous SNV ADRB2:NM_000024:exon1:c.G1239A:p.L413L 0.51 0.58 0.44 0.64 0.31 0.52 0.3982 0.5464 0.5033 0.6220 0.2789 0.3266 0.3833 0.4708 0.4 0.54 0.33 0.47 0.34 rs1042720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3775 0.5404 0.4639 0.2882 0.6116 0.2635 0.3092 0.3612 0.4475 0.3942 0.5339 0.4759 0.3477 0.6123 0.2795 0.3150 0.3760 het 756.33 72 5 148207633 . G A 756.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.909;DP=72;Dels=0.00;FS=2.254;HRun=0;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;MQRankSum=1.629;QD=10.50;ReadPosRankSum=0.236;VQSLOD=5.6704;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,34:72:99:786,0,1076 5 148407708 148407708 A C exonic SH3TC2 synonymous SNV SH3TC2:NM_024577:exon11:c.T1587G:p.R529R 0.99 1. 0.99 1. 0.97 0.99 0.9785 0.9952 0.9905 0.9998 0.9838 0.9684 0.9801 0.9867 0.98 0.99 0.97 0.95 0.89 rs1432794 . . other|Benign|Benign not_specified|Charcot-Marie-Tooth\x2c_Type_4|Mononeuropathy_of_the_Median_Nerve RCV000118336.4|RCV000362334.1|RCV000405810.1 MedGen|MedGen|MedGen CN169374|CN239178|C3150597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9788 0.9948 0.9894 0.9920 0.9998 0.9821 0.9662 0.9781 0.9864 0.9791 0.9943 0.9916 0.9901 1 0.9831 0.9665 0.9724 hom 7750.56 228 5 148407708 . A C 7750.56 Mask AC=2;AF=1.00;AN=2;DP=228;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4510;MQ=59.36;MQ0=0;QD=33.99;VQSLOD=6.7620;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,228:228:99:7750,605,0 5 148989122 148989122 C T exonic ARHGEF37 synonymous SNV ARHGEF37:NM_001001669:exon4:c.C322T:p.L108L 0.38 0.28 0.33 0.36 0.55 0.37 0.4655 0.3047 0.2239 0.3670 0.6004 0.5485 0.4822 0.3909 0.46 0.3 0.54 0.38 0.57 rs2400891 COSM149983 1(breast);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4628 0.2985 0.2512 0.5376 0.3674 0.6089 0.5452 0.4881 0.3952 0.4692 0.3056 0.3181 0.5927 0.3741 0.6060 0.5468 0.4939 het 2416.28 172 5 148989122 . C T 2416.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.455;DP=172;Dels=0.00;FS=3.537;HRun=3;HaplotypeScore=2.5636;MQ=59.65;MQ0=0;MQRankSum=1.078;QD=14.05;ReadPosRankSum=0.127;VQSLOD=6.2971;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,90:172:99:2446,0,2196 5 149001551 149001551 A C exonic ARHGEF37 nonsynonymous SNV ARHGEF37:NM_001001669:exon9:c.A1261C:p.M421L 0.44 0.38 0.48 0.5 0.34 0.52 0.4185 0.3939 0.5483 0.5052 0.3563 0.3716 0.4144 0.5102 0.36 0.38 0.36 0.37 0.39 rs4629585 COSM4159626 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.090 P -3.08 0.000 N 0.85 0.471 T 0.78 0.019 N 0.031 0.012 -0.917 0.460 T 0.000 0.000 T . . . -0.420 0.060 0.346 0.539 0.049 0.027 0.072 N c -1.218 -0.959 1.000 0.747 0.563 0.310 0 4.1 0.470 0.136 0.157 0.060 0.166 0.020 0.195 0.724 0.315 8.822 0.340 Arfaptin homology (AH) domain/BAR domain|BAR domain . . 0.4165 0.3880 0.5356 0.3038 0.5033 0.3525 0.3695 0.3839 0.5106 0.3883 0.3818 0.4689 0.2649 0.5149 0.3525 0.3831 0.4153 hom 1420.30 40 5 149001551 . A C 1420.30 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5731;MQ=60.00;MQ0=0;QD=35.51;VQSLOD=8.9167;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1453,117,0 5 149003627 149003627 C T exonic ARHGEF37 nonsynonymous SNV ARHGEF37:NM_001001669:exon10:c.C1388T:p.A463V 0.12 0.23 0.049 0.083 0.063 0.1 0.0913 0.1992 0.0389 0.0699 0.0934 0.0815 0.0919 0.1145 0.11 0.18 0.074 0.13 0.14 rs55915030 COSM149984 1(stomach);2(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 0.344 0.125 T 0.001 0.067 B 0.003 0.080 B 0.948 0.076 N 1 0.090 P 1.04 0.263 L 0.55 0.547 T 0.09 0.059 N 0.011 0.001 -1.014 0.258 T 0.000 0.000 T . . . -0.317 0.067 0.606 0.192 0.006 0.060 0.118 N c -1.003 -0.966 1.000 0.437 0.563 0.310 0 2.48 0.291 0.154 0.160 0.935 0.490 0.000 0.063 0.005 0.090 7.725 0.277 . . . 0.0864 0.1962 0.0416 0.1138 0.0667 0.0933 0.0759 0.0878 0.1156 0.1122 0.1885 0.0610 0.0894 0.0679 0.0907 0.0827 0.0847 het 1724.01 127 5 149003627 . C T 1724.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.109;DP=127;Dels=0.00;FS=0.680;HRun=0;HaplotypeScore=5.2914;MQ=59.12;MQ0=0;MQRankSum=-0.632;QD=13.57;ReadPosRankSum=-2.703;VQSLOD=3.7839;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,69:127:99:1754,0,1714 5 149006726 149006726 A C exonic ARHGEF37 nonsynonymous SNV ARHGEF37:NM_001001669:exon11:c.A1552C:p.S518R 0.13 0.27 0.049 0.084 0.063 0.1 0.0953 0.2443 0.0406 0.0716 0.0934 0.0813 0.0938 0.1145 0.12 0.22 0.074 0.14 0.13 rs7732714 COSM149985 1(breast);1(stomach);2(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 0.009 0.574 D 0.906 0.480 P 0.72 0.530 P 0.000 0.454 D 0.169 0.349 P 2.625 0.771 M 0.97 0.425 T -1.62 0.389 N 0.066 0.052 -1.085 0.064 T 0.000 0.000 T . . . 2.411 0.351 18.89 0.998 0.898 0.932 0.574 D c 0.359 0.336 1.000 0.458 0.563 0.310 0 3.93 0.445 4.101 0.573 1.088 0.866 1.000 0.715 0.984 0.507 11.816 0.513 SH3 domain|Variant SH3 domain . . 0.0898 0.2442 0.0434 0.1139 0.0683 0.0934 0.0759 0.0911 0.1160 0.1251 0.2341 0.0644 0.0894 0.0697 0.0908 0.0824 0.0866 het 2785.27 250 5 149006726 . A C 2785.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.291;DP=250;DS;Dels=0.00;FS=0.465;HRun=1;HaplotypeScore=4.3614;MQ=58.77;MQ0=0;MQRankSum=-0.747;QD=11.14;ReadPosRankSum=-0.180;VQSLOD=5.6535;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:2815,0,3997 5 149008403 149008403 A G exonic ARHGEF37 synonymous SNV ARHGEF37:NM_001001669:exon12:c.A1692G:p.L564L 0.67 0.6 0.55 0.84 0.72 0.64 0.6896 0.6021 0.4886 0.8525 0.7527 0.7191 0.7084 0.6496 0.69 0.62 0.72 0.67 0.63 rs1056993 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6836 0.5951 0.4966 0.7871 0.8517 0.7474 0.7133 0.7133 0.6452 0.6820 0.5942 0.5849 0.7881 0.8439 0.7454 0.7045 0.6738 het 656.82 58 5 149008403 . A G 656.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.675;DP=58;Dels=0.00;FS=2.899;HRun=0;HaplotypeScore=3.8564;MQ=59.08;MQ0=0;MQRankSum=-0.583;QD=11.32;ReadPosRankSum=1.798;VQSLOD=5.3322;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,28:58:99:687,0,742 5 149008521 149008521 A G exonic ARHGEF37 nonsynonymous SNV ARHGEF37:NM_001001669:exon12:c.A1810G:p.M604V 0.69 0.68 0.55 0.84 0.72 0.64 0.6952 0.6791 0.4895 0.8521 0.7506 0.7186 0.7128 0.6490 0.71 0.69 0.72 0.69 0.7 rs1135093 COSM4159628 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.645 0.106 N 1 0.090 P -1.3 0.007 N -0.22 0.665 T 0.17 0.051 N 0.022 0.005 -0.962 0.389 T 0.000 0.000 T . . . -1.933 0.009 0.001 0.326 0.019 0.002 0.012 N c -1.808 -1.786 1.000 0.428 0.554 0.283 0 -3.51 0.044 -0.495 0.065 -0.732 0.036 0.000 0.063 0.002 0.062 13.533 0.609 SH3 domain ENSG00000183111.7 Nerve_Tibial 0.6892 0.6760 0.4999 0.7870 0.8520 0.7475 0.7136 0.7181 0.6451 0.7044 0.6728 0.5873 0.7881 0.8432 0.7453 0.7049 0.6773 het 936.22 79 5 149008521 . A G 936.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.793;DP=79;Dels=0.00;FS=6.983;HRun=0;HaplotypeScore=0.9958;MQ=58.97;MQ0=0;MQRankSum=-0.408;QD=11.85;ReadPosRankSum=-0.634;VQSLOD=5.1257;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:966,0,1058 5 149219653 149219653 G A exonic PPARGC1B nonsynonymous SNV PPARGC1B:NM_001172698:exon8:c.G2551A:p.A851T,PPARGC1B:NM_001172699:exon8:c.G2476A:p.A826T,PPARGC1B:NM_133263:exon9:c.G2668A:p.A890T 0.0028 . 0.014 . 0.004 . 0.0097 0.0005 0.0683 0.0030 0.0219 0.0021 0.0193 0.0024 0.0008 0.0009 0.0007 . . rs150637009 . . . . . . . . . . . . . 0.143 0.269 T 0.501 0.577 P 0.119 0.484 B 0.165 0.175 N 1.000 0.197 N 0.895 0.225 L 0.98 0.421 T -1.21 0.312 N 0.167 0.357 -1.029 0.207 T 0.067 0.277 T . . . 2.448 0.355 19.13 0.950 0.253 0.152 0.186 N c -0.195 -0.212 0.999 0.377 0.560 0.301 0 1.76 0.237 0.838 0.270 1.036 0.656 0.534 0.270 0.996 0.625 5.332 0.151 Nucleotide-binding alpha-beta plait domain . . 0.0115 0.0003 0.0575 0.0050 0.0039 0.0233 0.0012 0.0095 0.0023 0.0056 0.0006 0.0453 0 0.0025 0.0215 0.0026 0.0133 het 579.78 65 5 149219653 . G A 579.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.059;DP=65;Dels=0.00;FS=1.000;HRun=0;HaplotypeScore=1.7480;MQ=59.29;MQ0=0;MQRankSum=-1.237;QD=8.92;ReadPosRankSum=-0.977;VQSLOD=4.0860;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,26:65:99:610,0,919 5 149360877 149360877 T C exonic SLC26A2 nonsynonymous SNV SLC26A2:NM_000112:exon3:c.T1721C:p.I574T . . . . . . 0.9928 0.9983 0.9977 1 0.9982 0.9891 0.9956 0.9947 0.99 1. 0.99 0.99 0.98 rs30832 . . Benign|Benign|Benign|Benign|Benign|Benign not_specified|Diastrophic_dysplasia|Osteochondrodysplasia|Achondrogenesis|Atelosteogenesis|Multiple_epiphyseal_dysplasia_4 RCV000176982.3|RCV000265444.1|RCV000271433.1|RCV000320835.1|RCV000360315.1|RCV000384666.1 MedGen:SNOMED_CT|MedGen:OMIM:Orphanet CN163181:43814000|C1847593:226900:ORPHA93307 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.368 N 1 0.090 P -1.555 0.005 N -2.26 0.874 D 2.87 0.002 N 0.007 0.000 -0.948 0.413 T 0.000 0.000 T . . . -1.074 0.029 0.011 0.139 0.003 0.077 0.135 N c -0.934 -0.765 1.000 0.413 0.706 0.609 0 4.37 0.517 1.688 0.371 -0.396 0.063 0.056 0.214 0.576 0.284 9.899 0.403 STAS domain . . 0.9931 0.9980 0.9974 0.9927 0.9999 0.9978 0.9889 0.9938 0.9944 0.9935 0.9986 0.9952 1 1 0.9971 0.9886 0.9969 hom 2740.36 84 5 149360877 . T C 2740.36 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=58.98;MQ0=0;QD=32.62;VQSLOD=9.9976;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2773,217,0 5 149374880 149374880 T - exonic TIGD6 frameshift deletion TIGD6:NM_001243253:exon2:c.1032delA:p.E345Kfs*10,TIGD6:NM_030953:exon2:c.1032delA:p.E345Kfs*10 0.52 0.36 0.48 0.59 0.61 0.6 0.6030 0.4022 0.4287 0.6094 0.6805 0.6604 0.5980 0.5854 0.57 0.41 0.65 . . rs397756704 COSM5021206 1(bone);1(skin);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5972 0.4045 0.4304 0.6074 0.6216 0.6740 0.6568 0.6001 0.5852 0.5914 0.4162 0.4499 0.6026 0.5946 0.6677 0.6802 0.6370 hom 6304.33 166 5 149374879 . CT C 6304.33 Mask AC=2;AF=1.00;AN=2;DP=166;FS=0.000;HRun=2;HaplotypeScore=680.1418;MQ=60.81;MQ0=0;QD=37.98;set=variant2 GT:AD:DP:GQ:PL 1/1:1,165:166:99:6304,491,0 5 149374932 149374932 T C exonic TIGD6 nonsynonymous SNV TIGD6:NM_001243253:exon2:c.A980G:p.Q327R,TIGD6:NM_030953:exon2:c.A980G:p.Q327R 0.67 0.51 0.75 0.7 0.76 0.7 0.7538 0.5406 0.7675 0.7209 0.8221 0.7977 0.75 0.6911 0.71 0.54 0.8 0.66 0.76 rs10875553 COSM4407313 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.362 N 1 0.090 P -2.51 0.001 N 1.93 0.229 T 3.33 0.001 N 0.026 0.008 -0.969 0.374 T 0.000 0.000 T . . . -2.123 0.006 0.001 0.613 0.065 0.000 0.002 N c -1.367 -1.247 0.998 0.367 0.615 0.372 0 3.82 0.430 2.338 0.434 -0.487 0.053 0.009 0.180 0.002 0.062 9.621 0.387 DDE superfamily endonuclease domain . . 0.7572 0.5431 0.7634 0.7705 0.7320 0.8163 0.7930 0.7701 0.6917 0.7347 0.5555 0.7434 0.7682 0.7169 0.8228 0.8153 0.7918 hom 6375.91 204 5 149374932 . T C 6375.91 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8647;MQ=59.62;MQ0=0;QD=31.25;VQSLOD=7.4220;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:6375,521,0 5 149460343 149460343 G A exonic CSF1R synonymous SNV CSF1R:NM_001288705:exon2:c.C294T:p.H98H,CSF1R:NM_005211:exon3:c.C294T:p.H98H,CSF1R:NM_001349736:exon4:c.C294T:p.H98H 0.078 0.024 0.16 0.23 0.006 0.0051 0.0493 0.0248 0.2529 0.2381 0.0281 0.0054 0.0352 0.0103 0.011 0.025 0.0047 0.054 0.0082 rs17652007 COSM3683792;COSM35672 2(haematopoietic_and_lymphoid_tissue);1(soft_tissue) Benign Hereditary_diffuse_leukoencephalopathy_with_spheroids RCV000280856.1 Gene:MedGen:OMIM 8156:C1857300:221820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0584 0.0278 0.2417 0.0046 0.2356 0.0284 0.0050 0.0413 0.0105 0.0317 0.0234 0.2053 0.0066 0.2506 0.0261 0.0057 0.0214 het 442.07 45 5 149460343 . G A 442.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.033;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-1.275;QD=9.82;ReadPosRankSum=-2.470;VQSLOD=5.1731;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,19:45:99:472,0,714 5 149495395 149495395 T C exonic PDGFRB synonymous SNV PDGFRB:NM_002609:exon23:c.A3252G:p.P1084P 0.29 0.3 0.32 0.11 0.4 0.31 0.3474 0.3243 0.2290 0.1166 0.2438 0.4167 0.3635 0.3260 0.4 0.33 0.43 0.26 0.4 rs246388 COSM149993 1(bone);1(stomach);11(soft_tissue) Benign not_specified RCV000241889.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3399 0.3134 0.2467 0.4190 0.1118 0.2367 0.4251 0.3543 0.3269 0.3445 0.3239 0.2883 0.4167 0.1066 0.2374 0.4084 0.3493 het 298.09 40 5 149495395 . T C 298.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.793;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-0.326;QD=7.45;ReadPosRankSum=0.751;VQSLOD=5.3096;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,14:40:99:328,0,714 5 149499672 149499672 T C exonic PDGFRB synonymous SNV PDGFRB:NM_002609:exon19:c.A2601G:p.L867L 0.24 0.15 0.3 0.15 0.29 0.33 0.2871 0.1705 0.2716 0.1352 0.2070 0.3241 0.3002 0.3325 0.28 0.19 0.33 0.21 0.39 rs246395 COSM149995 1(stomach);9(soft_tissue);1(thyroid);1(biliary_tract) Benign not_specified RCV000242001.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2861 0.1653 0.2701 0.3219 0.1357 0.2064 0.3292 0.2899 0.3367 0.2550 0.1689 0.2852 0.3046 0.1272 0.2144 0.3224 0.3037 het 1882.06 112 5 149499672 . T C 1882.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.365;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7085;MQ=59.16;MQ0=0;MQRankSum=1.415;QD=16.80;ReadPosRankSum=0.177;VQSLOD=4.3553;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,65:112:99:1912,0,1064 5 149583300 149583300 T C exonic SLC6A7 synonymous SNV SLC6A7:NM_014228:exon9:c.T1158C:p.F386F 0.66 0.6 0.77 0.5 0.73 0.76 0.7100 0.6331 0.7732 0.4821 0.6271 0.7415 0.6971 0.7400 0.72 0.63 0.76 0.69 0.78 rs2240793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7150 0.6326 0.7748 0.7502 0.4781 0.6212 0.7532 0.7209 0.7401 0.6772 0.6417 0.7746 0.73 0.4692 0.6131 0.7274 0.6977 het 1155.45 101 5 149583300 . T C 1155.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.556;DP=101;Dels=0.00;FS=1.658;HRun=1;HaplotypeScore=4.3813;MQ=58.86;MQ0=0;MQRankSum=-1.204;QD=11.44;ReadPosRankSum=0.378;VQSLOD=5.3189;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,46:101:99:1185,0,1489 5 149583336 149583336 T C exonic SLC6A7 synonymous SNV SLC6A7:NM_014228:exon9:c.T1194C:p.D398D 0.79 0.89 0.8 0.69 0.76 0.81 0.7749 0.8737 0.7974 0.6505 0.6689 0.7799 0.7472 0.7850 0.82 0.87 0.79 0.87 0.79 rs2240794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7730 0.8784 0.7981 0.8023 0.6505 0.6613 0.7864 0.7714 0.7847 0.7815 0.8757 0.8116 0.7685 0.6513 0.6520 0.7730 0.7349 het 977.75 81 5 149583336 . T C 977.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.911;DP=81;Dels=0.00;FS=1.965;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;MQRankSum=1.038;QD=12.07;ReadPosRankSum=-0.877;VQSLOD=6.4576;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:1008,0,1089 5 149585025 149585025 A C exonic SLC6A7 nonsynonymous SNV SLC6A7:NM_014228:exon13:c.A1540C:p.M514L 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs4705426 COSM4590137 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.186 P -1.915 0.002 N -0.48 0.703 T 1.23 0.010 N 0.177 0.215 -0.940 0.426 T 0.000 0.000 T . . . 0.859 0.176 9.822 0.574 0.056 0.080 0.138 N c -0.986 -0.642 0.989 0.315 0.554 0.283 0 4.77 0.603 2.870 0.479 0.067 0.174 1.000 0.715 0.957 0.436 11.238 0.480 . . . 1.0000 1 1.0000 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3177.59 106 5 149585025 . A C 3177.59 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=58.81;MQ0=0;QD=29.98;VQSLOD=8.9949;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3211,244,0 5 149602608 149602608 A G exonic CAMK2A synonymous SNV CAMK2A:NM_171825:exon17:c.T1377C:p.D459D,CAMK2A:NM_015981:exon18:c.T1410C:p.D470D 0.91 1. 0.97 0.84 0.92 0.82 0.9185 0.9875 0.9709 0.8329 0.9241 0.9276 0.9102 0.8460 0.94 0.98 0.92 0.87 0.88 rs2241694 COSM4159640 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9181 0.9871 0.9676 0.9134 0.8320 0.9313 0.9251 0.9208 0.8443 0.9372 0.9830 0.9582 0.9007 0.8298 0.9240 0.9248 0.9367 hom 3212.13 101 5 149602608 . A G 3212.13 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.59;MQ0=0;QD=31.80;VQSLOD=9.2492;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3245,286,0 5 149677851 149677851 A G exonic ARSI synonymous SNV ARSI:NM_001012301:exon2:c.T636C:p.Y212Y 1. 1. 1. 1. 1. 1. 0.9962 0.9985 0.9988 0.9997 0.9990 0.9940 0.9989 0.9989 0.99 1. 0.99 0.99 0.8 rs6579784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9988 0.9984 0.9963 0.9999 0.9994 0.9937 0.9952 0.9988 0.9963 0.9986 0.9952 0.9967 1 0.9991 0.9937 1 hom 875.49 29 5 149677851 . A G 875.49 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8583;MQ=57.57;MQ0=0;QD=30.19;VQSLOD=6.8612;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:78.19:908,78,0 5 149772280 149772280 C G exonic TCOF1 nonsynonymous SNV TCOF1:NM_000356:exon21:c.C3296G:p.P1099R,TCOF1:NM_001135244:exon21:c.C3416G:p.P1139R,TCOF1:NM_001135245:exon21:c.C3299G:p.P1100R,TCOF1:NM_001195141:exon21:c.C3413G:p.P1138R,TCOF1:NM_001135243:exon22:c.C3527G:p.P1176R 0.082 0.0076 0.13 0.001 0.24 0.069 0.1709 0.0387 0.0992 0.0007 0.2394 0.2404 0.1823 0.0864 0.17 0.046 0.23 0.054 0.16 rs1136103 . . other|Likely benign not_specified|Treacher_Collins_Syndrome\x2c_Dominant RCV000118612.3|RCV000397933.1 MedGen|MedGen CN169374|CN239287 . . . . . . 0.046 0.473 D 0.971 0.689 D 0.839 0.607 P 0.400 0.131 N 1 0.090 P 1.75 0.456 L 0.42 0.570 T -4.84 0.810 D 0.125 0.443 -1.074 0.085 T 0.000 0.000 T . . . 4.476 0.599 24.2 0.997 0.794 0.420 0.265 N c -0.230 -0.363 0.990 0.319 0.707 0.730 0 2.57 0.298 0.751 0.258 0.852 0.362 0.001 0.137 0.009 0.108 7.322 0.255 . . . 0.1685 0.0358 0.0987 0.2230 0.0004 0.2422 0.2361 0.1951 0.0862 0.1552 0.0416 0.1146 0.1987 0 0.2332 0.2189 0.1935 het 467.88 39 5 149772280 . C G 467.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.369;DP=39;Dels=0.00;FS=1.243;HRun=0;HaplotypeScore=0.5784;MQ=58.55;MQ0=0;MQRankSum=0.773;QD=12.00;ReadPosRankSum=0.436;VQSLOD=5.8823;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,19:39:99:498,0,512 5 149776232 149776232 C T exonic TCOF1 nonsynonymous SNV TCOF1:NM_000356:exon23:c.C3938T:p.A1313V,TCOF1:NM_001135244:exon23:c.C4058T:p.A1353V,TCOF1:NM_001135245:exon23:c.C3941T:p.A1314V,TCOF1:NM_001195141:exon23:c.C4055T:p.A1352V,TCOF1:NM_001135243:exon24:c.C4169T:p.A1390V 0.22 0.057 0.23 0.2 0.3 0.39 0.2922 0.0971 0.2583 0.2109 0.2933 0.3106 0.2992 0.3827 0.21 0.088 0.27 0.23 0.25 rs15251 COSM4407115;COSM4407116 1(liver) other|Benign not_specified|Treacher_Collins_Syndrome\x2c_Dominant RCV000118615.3|RCV000293133.1 MedGen|MedGen CN169374|CN239287 . . . . . . 0.013 0.538 D 0.557 0.473 P 0.125 0.444 B 0.595 0.056 N 1 0.090 P 1.5 0.380 L -0.86 0.745 T -2.47 0.539 N 0.04 0.348 -1.111 0.030 T 0.000 0.000 T . . . 5.447 0.739 26.1 0.998 0.916 0.709 0.345 D c -0.149 -0.176 0.994 0.335 0.707 0.730 0 2.64 0.304 3.562 0.533 0.046 0.159 0.958 0.332 0.492 0.269 6.765 0.226 . . . 0.2598 0.0727 0.2296 0.3661 0.1834 0.2432 0.2704 0.2841 0.3625 0.2190 0.0832 0.2368 0.4007 0.1867 0.2463 0.2871 0.2747 het 171.72 19 5 149776232 . C T 171.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.715;DP=19;Dels=0.00;FS=1.871;HRun=0;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;MQRankSum=0.939;QD=9.04;ReadPosRankSum=-0.939;VQSLOD=4.8974;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:202,0,252 5 149919739 149919739 G C exonic NDST1 synonymous SNV NDST1:NM_001301063:exon8:c.G1662C:p.T554T,NDST1:NM_001543:exon8:c.G1662C:p.T554T 0.81 0.97 0.72 0.78 0.67 0.81 0.7156 0.9228 0.7549 0.7894 0.7210 0.6527 0.6987 0.7713 0.75 0.92 0.65 0.8 0.56 rs1290147 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7100 0.9268 0.7491 0.5780 0.7841 0.7231 0.6520 0.6655 0.7690 0.7447 0.9169 0.7422 0.5497 0.7509 0.7207 0.6569 0.6914 het 1370.40 98 5 149919739 . G C 1370.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.737;DP=98;Dels=0.00;FS=15.441;HRun=1;HaplotypeScore=2.5584;MQ=58.95;MQ0=0;MQRankSum=-0.103;QD=13.98;ReadPosRankSum=-0.465;VQSLOD=3.9168;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,48:98:99:1400,0,1322 5 150051958 150051958 T C exonic MYOZ3 nonsynonymous SNV MYOZ3:NM_001122853:exon6:c.T481C:p.S161P,MYOZ3:NM_133371:exon6:c.T481C:p.S161P 0.99 1. 0.99 1. 0.98 1. 0.9903 0.9966 0.9956 0.9998 0.9890 0.9852 0.9965 0.9982 0.99 1. 0.98 1. 0.98 rs194134 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.495 P -3.41 0.000 N 0.18 0.604 T 6.35 0.000 N 0.097 0.172 -0.955 0.402 T 0.000 0.000 T . . . 1.997 0.301 16.19 0.906 0.192 0.038 0.090 N c -0.854 -0.503 1.000 0.747 0.564 0.319 0 4.91 0.638 4.839 0.623 -0.026 0.128 1.000 0.715 0.998 0.697 10.762 0.453 . . . 0.9907 0.9967 0.9936 0.9995 0.9999 0.9910 0.9846 0.9934 0.9981 0.9900 0.9976 0.9905 1 1 0.9874 0.9851 0.9877 hom 686.77 25 5 150051958 . T C 686.77 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=59.07;MQ0=0;QD=27.47;VQSLOD=7.4472;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:60.15:720,60,0 5 150436503 150436503 G C exonic TNIP1 nonsynonymous SNV TNIP1:NM_001252386:exon5:c.C292G:p.P98A,TNIP1:NM_001258455:exon5:c.C451G:p.P151A,TNIP1:NM_001258456:exon5:c.C451G:p.P151A,TNIP1:NM_001252385:exon6:c.C451G:p.P151A,TNIP1:NM_001252390:exon6:c.C451G:p.P151A,TNIP1:NM_001252391:exon6:c.C451G:p.P151A,TNIP1:NM_001252392:exon6:c.C451G:p.P151A,TNIP1:NM_001252393:exon6:c.C451G:p.P151A,TNIP1:NM_001258454:exon6:c.C451G:p.P151A,TNIP1:NM_006058:exon6:c.C451G:p.P151A 0.095 0.21 0.091 0.003 0.083 0.047 0.0904 0.2022 0.0719 0.0023 0.0761 0.0970 0.0929 0.0591 0.12 0.18 0.088 0.13 0.0082 rs2233290 COSM330482 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.053 0.424 T 0.978 0.899 D 0.908 0.850 P 0.000 0.843 N 0.000 0.530 P 2.78 0.814 M 2.34 0.197 T -2.82 0.917 D 0.1 0.304 -1.135 0.015 T 0.000 0.000 T . . . 1.168 0.207 11.58 0.995 0.705 0.956 0.651 D c 0.479 0.377 1.000 0.747 0.706 0.609 0 4.14 0.477 6.365 0.728 0.100 0.199 1.000 0.715 0.020 0.134 15.586 0.761 . . . 0.0824 0.1951 0.0602 0.1219 0.0015 0.0717 0.0907 0.1010 0.0515 0.1053 0.1877 0.0656 0.1033 0.0006 0.0641 0.0821 0.0825 het 573.92 45 5 150436503 . G C 573.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.761;DP=45;Dels=0.00;FS=1.306;HRun=1;HaplotypeScore=1.6642;MQ=60.00;MQ0=0;MQRankSum=-0.920;QD=12.75;ReadPosRankSum=0.261;VQSLOD=5.6175;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:604,0,654 5 150489390 150489390 A G exonic ANXA6 synonymous SNV ANXA6:NM_001193544:exon21:c.T1512C:p.P504P,ANXA6:NM_001155:exon22:c.T1608C:p.P536P 0.76 0.84 0.76 0.67 0.76 0.74 0.7495 0.8325 0.7513 0.6977 0.7291 0.7447 0.7175 0.7569 0.78 0.84 0.76 0.77 . rs1133202 COSM3761039;COSM3761038 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7405 0.8337 0.7476 0.7611 0.6832 0.7107 0.7381 0.7351 0.7450 0.7620 0.8259 0.7542 0.7616 0.6880 0.7119 0.7466 0.7367 hom 1111.53 35 5 150489390 . A G 1111.53 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;QD=31.76;VQSLOD=9.2744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:87.28:1145,87,0 5 150578574 150578574 A G exonic CCDC69 synonymous SNV CCDC69:NM_015621:exon4:c.T303C:p.N101N 0.22 0.019 0.37 0.2 0.25 0.35 0.2589 0.0596 0.4699 0.1957 0.2782 0.2411 0.2720 0.3336 0.18 0.065 0.24 0.22 0.17 rs3734038 COSM4417470 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2693 0.0565 0.4494 0.2489 0.1995 0.2736 0.2381 0.2582 0.3366 0.1954 0.0616 0.4115 0.2748 0.1980 0.2679 0.2372 0.2760 het 3888.63 249 5 150578574 . A G 3888.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.365;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4818;MQ=58.92;MQ0=0;MQRankSum=1.545;QD=15.62;ReadPosRankSum=-0.410;VQSLOD=4.6323;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,130:249:99:3298,0,2939 5 150639409 150639409 A G exonic GM2A nonsynonymous SNV GM2A:NM_000405:exon2:c.A175G:p.I59V,GM2A:NM_001167607:exon2:c.A175G:p.I59V 0.66 0.57 0.74 0.66 0.65 0.76 0.6645 0.5809 0.8035 0.6402 0.6099 0.6372 0.6960 0.7629 0.61 0.57 0.63 0.66 0.63 rs153477 COSM5426808 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Tay-Sachs_disease\x2c_variant_AB RCV000153332.4|RCV000376352.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0268275:272750:71253000 . . . . . . 0.419 0.109 T 0.0 0.026 B 0.0 0.013 B 0.459 0.049 N 1 0.090 P -1.87 0.003 N -0.77 0.735 T 0.62 0.024 N 0.009 0.222 -0.956 0.400 T 0.000 0.000 T . . . -2.998 0.001 0.001 0.283 0.014 0.005 0.023 N c -1.837 -1.767 1.000 0.410 0.719 0.830 0 -0.554 0.112 -0.864 0.043 -0.865 0.028 0.000 0.063 0.001 0.043 2.277 0.038 MD-2-related lipid-recognition domain ENSG00000196743.4|ENSG00000196743.4|ENSG00000196743.4 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.6669 0.5807 0.7770 0.6945 0.6385 0.6195 0.6297 0.6691 0.7658 0.6158 0.5825 0.7302 0.6788 0.6379 0.6156 0.6216 0.6711 hom 2233.35 79 5 150639409 . A G 2233.35 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=57.12;MQ0=0;QD=28.27;VQSLOD=5.6326;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2266,186,0 5 150639439 150639439 A G exonic GM2A nonsynonymous SNV GM2A:NM_000405:exon2:c.A205G:p.M69V,GM2A:NM_001167607:exon2:c.A205G:p.M69V 0.86 0.87 0.81 1. 0.68 0.93 0.7623 0.8573 0.8774 0.9988 0.6581 0.6697 0.7555 0.9132 0.72 0.85 0.66 0.85 0.66 rs153478 . . Benign|Benign not_specified|Tay-Sachs_disease\x2c_variant_AB RCV000153333.4|RCV000286625.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0268275:272750:71253000 . . . . . . 0.295 0.147 T 0.0 0.026 B 0.0 0.013 B 0.623 0.107 N 1 0.090 P -0.895 0.014 N -0.38 0.690 T 0.28 0.064 N 0.005 0.306 -0.995 0.314 T 0.000 0.000 T . . . -1.697 0.013 0.002 0.338 0.020 0.003 0.014 N c -1.755 -1.703 1.000 0.489 0.719 0.830 0 -2.41 0.061 0.762 0.260 -1.416 0.012 0.000 0.063 0.000 0.016 1.215 0.018 MD-2-related lipid-recognition domain ENSG00000196743.4|ENSG00000196743.4|ENSG00000196743.4|ENSG00000186334.5 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.7589 0.8596 0.8511 0.7240 0.9988 0.6637 0.6610 0.7304 0.9129 0.7381 0.8594 0.8146 0.7086 0.9988 0.6580 0.6544 0.7327 hom 1998.30 71 5 150639439 . A G 1998.30 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.635;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.31;MQ0=0;MQRankSum=1.049;QD=28.15;ReadPosRankSum=0.756;VQSLOD=7.8299;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,70:71:99:2031,165,0 5 150666933 150666933 C A exonic SLC36A3 synonymous SNV SLC36A3:NM_181774:exon6:c.G582T:p.L194L,SLC36A3:NM_001145017:exon7:c.G705T:p.L235L 0.25 0.2 0.15 0.45 0.18 0.28 0.2227 0.1910 0.1680 0.4423 0.2486 0.1979 0.2258 0.2560 0.18 0.19 0.18 0.34 0.19 rs375396 COSM5959910;COSM5959909 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2189 0.1927 0.1625 0.2524 0.4292 0.2480 0.1890 0.2107 0.2533 0.2176 0.1939 0.1874 0.2980 0.4234 0.2428 0.2026 0.2295 hom 3797.78 120 5 150666933 . C A 3797.78 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7900;MQ=59.44;MQ0=0;QD=31.65;VQSLOD=9.6637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:120:99:3797,298,0 5 150696447 150696447 C T exonic SLC36A2 synonymous SNV SLC36A2:NM_181776:exon10:c.G1383A:p.Q461Q 0.67 0.59 0.68 0.85 0.53 0.75 0.6152 0.5992 0.7870 0.8571 0.5089 0.5431 0.5717 0.7144 0.55 0.59 0.53 0.63 0.54 rs369907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.618 0.6033 0.7673 0.6408 0.8457 0.5027 0.5350 0.5959 0.7159 0.5689 0.5994 0.7392 0.6467 0.8372 0.5034 0.5262 0.5673 het 967.22 73 5 150696447 . C T 967.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.359;DP=73;Dels=0.00;FS=8.085;HRun=1;HaplotypeScore=1.9142;MQ=58.35;MQ0=0;MQRankSum=0.149;QD=13.25;ReadPosRankSum=-1.231;VQSLOD=4.4455;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:997,0,1026 5 150696540 150696540 C T exonic SLC36A2 synonymous SNV SLC36A2:NM_181776:exon10:c.G1290A:p.T430T 0.67 0.59 0.68 0.85 0.53 0.75 0.6146 0.5993 0.7862 0.8557 0.5102 0.5422 0.5698 0.7144 0.55 0.59 0.53 0.63 0.55 rs431240 COSM4159656 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6177 0.6032 0.7670 0.6408 0.8451 0.5033 0.5344 0.5955 0.7159 0.5685 0.5982 0.7350 0.6490 0.8370 0.5040 0.5263 0.5649 het 985.73 72 5 150696540 . C T 985.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.265;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.79;MQ0=0;MQRankSum=-0.434;QD=13.69;ReadPosRankSum=1.179;VQSLOD=5.8631;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,38:72:99:1016,0,761 5 150723806 150723806 G A exonic SLC36A2 synonymous SNV SLC36A2:NM_181776:exon2:c.C187T:p.L63L 0.63 0.31 0.64 0.98 0.53 0.77 0.6064 0.3704 0.7742 0.9846 0.5154 0.5390 0.5687 0.7462 0.47 0.36 0.52 0.58 0.57 rs192192 COSM5654047 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6111 0.3614 0.7517 0.6285 0.9849 0.5068 0.5287 0.5841 0.7454 0.5046 0.3585 0.7100 0.6358 0.9815 0.5086 0.5198 0.5510 het 1279.14 103 5 150723806 . G A 1279.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.666;DP=103;Dels=0.00;FS=3.695;HRun=1;HaplotypeScore=0.9469;MQ=59.23;MQ0=0;MQRankSum=0.577;QD=12.42;ReadPosRankSum=-1.000;VQSLOD=6.1345;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1309,0,1328 5 150886725 150886725 G A exonic FAT2 synonymous SNV FAT2:NM_001447:exon22:c.C12507T:p.S4169S 0.91 0.96 0.91 0.96 0.81 0.9 0.8606 0.9458 0.9248 0.9772 0.8107 0.8182 0.8510 0.9032 0.85 0.94 0.81 0.95 0.83 rs7723266 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8615 0.9473 0.9179 0.8861 0.9757 0.8111 0.8110 0.8452 0.9029 0.8507 0.9394 0.8998 0.89 0.9723 0.8138 0.7919 0.8361 hom 4015.08 131 5 150886725 . G A 4015.08 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.65;VQSLOD=14.1622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4014,313,0 5 150886882 150886882 G A exonic FAT2 nonsynonymous SNV FAT2:NM_001447:exon22:c.C12350T:p.P4117L 0.78 0.91 0.73 0.82 0.55 0.82 0.6643 0.8669 0.7601 0.8457 0.6093 0.5664 0.6410 0.7934 0.65 0.86 0.55 0.76 0.66 rs1105168 COSM3761045 2(pancreas);1(liver);1(large_intestine) . . . . . . . . . . . 0.65 0.048 T 0.0 0.026 B 0.0 0.013 B 0.700 0.062 N 1 0.090 P 0.22 0.096 N -0.51 0.706 T 0.13 0.055 N 0.017 0.281 -0.982 0.344 T 0.000 0.000 T . . . 0.561 0.148 7.883 0.289 0.015 0.094 0.150 N c -1.350 -1.308 0.997 0.354 0.615 0.372 0 0.264 0.148 0.086 0.147 -1.148 0.017 0.000 0.063 0.174 0.211 9.595 0.385 . ENSG00000123643.8|ENSG00000123643.8 Brain_Cerebellar_Hemisphere|Testis 0.6587 0.8736 0.7382 0.5690 0.8444 0.6027 0.5609 0.6128 0.7933 0.6677 0.8594 0.6926 0.5927 0.8457 0.5966 0.5558 0.6291 hom 3880.22 115 5 150886882 . G A 3880.22 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.27;MQ0=0;QD=33.74;VQSLOD=9.7127;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3880,301,0 5 150891733 150891733 A G exonic FAT2 synonymous SNV FAT2:NM_001447:exon20:c.T11898C:p.H3966H 0.8 0.68 0.8 0.95 0.72 0.88 0.7717 0.6852 0.8710 0.9716 0.7330 0.7247 0.7677 0.8568 0.71 0.69 0.72 0.76 0.61 rs2304028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7742 0.6796 0.8586 0.7479 0.9708 0.7350 0.7202 0.7566 0.8537 0.7196 0.6797 0.8141 0.6954 0.9667 0.7383 0.7055 0.7408 hom 2220.55 74 5 150891733 . A G 2220.55 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;QD=30.01;VQSLOD=8.7304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2254,198,0 5 150901111 150901111 A G exonic FAT2 synonymous SNV FAT2:NM_001447:exon18:c.T11043C:p.D3681D 0.78 0.63 0.8 0.95 0.72 0.85 0.7657 0.6562 0.8664 0.9718 0.7316 0.7243 0.7583 0.8367 0.7 0.65 0.72 0.72 0.66 rs3822699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7697 0.6532 0.8555 0.7612 0.9709 0.7347 0.7191 0.7514 0.8359 0.7114 0.6522 0.8094 0.7086 0.9673 0.7380 0.7049 0.7377 hom 4158.30 136 5 150901111 . A G 4158.30 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9880;MQ=59.10;MQ0=0;QD=30.58;VQSLOD=4.4488;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4157,352,0 5 150901261 150901261 C T exonic FAT2 nonsynonymous SNV FAT2:NM_001447:exon18:c.G10893A:p.M3631I 0.77 0.6 0.79 0.95 0.72 0.85 0.7625 0.6232 0.8650 0.9722 0.7309 0.7232 0.7562 0.8364 0.68 0.62 0.72 0.7 0.65 rs6650971 . . . . . . . . . . . . . 0.546 0.067 T 0.002 0.090 B 0.002 0.063 B 0.411 0.130 N 1.000 0.186 P 0.53 0.137 N -0.33 0.683 T 1.06 0.013 N 0.064 0.238 -1.012 0.264 T 0.000 0.000 T . . . 1.157 0.206 11.52 0.873 0.166 0.673 0.331 D c -0.253 -0.146 0.707 0.228 0.497 0.185 0 1.83 0.242 0.074 0.144 0.935 0.490 0.526 0.269 0.964 0.448 7.846 0.284 Cadherin ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000271795.1|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.7667 0.6182 0.8537 0.7606 0.9710 0.7340 0.7177 0.7484 0.8355 0.7015 0.6193 0.8067 0.7086 0.9673 0.7381 0.7037 0.7372 hom 2096.96 65 5 150901261 . C T 2096.96 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.43;MQ0=0;QD=32.26;VQSLOD=9.5325;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2130,175,0 5 150901300 150901300 G A exonic FAT2 synonymous SNV FAT2:NM_001447:exon18:c.C10854T:p.Y3618Y 0.76 0.58 0.79 0.95 0.71 0.85 0.7617 0.6156 0.8648 0.9718 0.7309 0.7235 0.7572 0.8357 0.68 0.61 0.72 0.69 0.65 rs3734046 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7662 0.6101 0.8534 0.7606 0.9707 0.7342 0.7179 0.7484 0.8352 0.6991 0.6101 0.8079 0.7053 0.9667 0.7383 0.7041 0.7357 hom 2192.39 73 5 150901300 . G A 2192.39 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=30.03;VQSLOD=8.9643;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2225,175,0 5 150901613 150901613 A G exonic FAT2 nonsynonymous SNV FAT2:NM_001447:exon18:c.T10541C:p.L3514S 0.78 0.62 0.8 0.95 0.72 0.85 0.7660 0.6423 0.8673 0.9701 0.7367 0.7257 0.7600 0.8399 0.69 0.64 0.72 0.66 0.66 rs2053028 COSM292313 1(large_intestine) . . . . . . . . . . . 0.467 0.085 T 0.0 0.026 B 0.005 0.104 B 0.002 0.367 N 1 0.090 P -1.465 0.005 N 0.75 0.502 T 2.1 0.004 N 0.025 0.346 -0.968 0.376 T 0.000 0.000 T . . . -0.282 0.070 0.729 0.681 0.083 0.146 0.183 N c -1.149 -0.995 0.994 0.333 0.497 0.185 0 2.36 0.281 1.974 0.399 0.138 0.222 0.963 0.335 0.037 0.154 9.270 0.366 Cadherin|Cadherin-like ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000271795.1|ENSG00000260581.1|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8|ENSG00000123643.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cortex|Breast_Mammary_Tissue|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.7689 0.6326 0.8555 0.7617 0.9694 0.7352 0.7190 0.7527 0.8358 0.7071 0.6345 0.8086 0.7086 0.9673 0.7386 0.7061 0.7378 hom 2874.12 88 5 150901613 . A G 2874.12 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3965;MQ=58.71;MQ0=0;QD=32.66;VQSLOD=8.6272;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2907,238,0 5 150914184 150914184 A T exonic FAT2 synonymous SNV FAT2:NM_001447:exon12:c.T9213A:p.T3071T 0.63 0.49 0.66 0.81 0.53 0.73 0.5901 0.4863 0.7072 0.8434 0.4782 0.5380 0.6079 0.6952 0.52 0.49 0.54 0.62 0.43 rs1432643 COSM3761048 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5948 0.4866 0.7002 0.6005 0.8372 0.4725 0.5372 0.5815 0.6958 0.5249 0.4783 0.6367 0.5795 0.8447 0.4553 0.5266 0.5205 het 2488.02 190 5 150914184 . A T 2488.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.909;DP=190;Dels=0.00;FS=2.048;HRun=0;HaplotypeScore=3.3843;MQ=58.90;MQ0=0;MQRankSum=1.102;QD=13.09;ReadPosRankSum=-0.632;VQSLOD=5.4679;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,94:190:99:2518,0,2628 5 150923405 150923405 A G exonic FAT2 nonsynonymous SNV FAT2:NM_001447:exon9:c.T7283C:p.F2428S 1. 1. 1. 1. 0.99 1. 0.9967 0.9991 0.9987 1 0.9968 0.9951 0.9978 0.9987 1. 1. 1. 1. 1. rs6892335 . . . . . . . . . . . . . 0.15 0.246 T 0.0 0.026 B 0.0 0.013 B 0.002 0.384 N 1.000 0.090 P -2.08 0.002 N 0.85 0.471 T 2.51 0.002 N 0.04 0.020 -0.962 0.389 T 0.000 0.000 T . . . 1.409 0.232 12.84 0.974 0.330 0.313 0.241 N c -0.785 -0.456 0.982 0.302 0.487 0.133 0 4.7 0.586 2.377 0.437 0.138 0.222 1.000 0.715 1.000 0.888 10.034 0.411 Cadherin|Cadherin-like . . 0.9968 0.9988 0.9985 1 1 0.9973 0.9946 0.9982 0.9986 0.9952 0.9984 0.9988 1 1 0.9960 0.9923 0.9959 hom 2464.52 70 5 150923405 . A G 2464.52 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=35.21;VQSLOD=9.1288;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2498,199,0 5 150925144 150925144 A G exonic FAT2 synonymous SNV FAT2:NM_001447:exon9:c.T5544C:p.P1848P 0.82 0.99 0.84 0.73 0.82 0.64 0.8093 0.9636 0.8433 0.7342 0.8011 0.8224 0.8245 0.6776 0.87 0.96 0.82 0.87 0.89 rs3797875 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8085 0.9656 0.8385 0.8489 0.7399 0.8037 0.8197 0.8292 0.6822 0.8493 0.9609 0.8496 0.8510 0.7453 0.8036 0.8090 0.8061 hom 3271.45 107 5 150925144 . A G 3271.45 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.1896;MQ=58.83;MQ0=0;QD=30.57;VQSLOD=8.3433;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3271,259,0 5 150942919 150942919 A G exonic FAT2 nonsynonymous SNV FAT2:NM_001447:exon2:c.T3541C:p.Y1181H 1. 1. 1. 1. 0.99 1. 0.9969 0.9990 0.9979 1 0.9989 0.9954 0.9923 0.9984 1. 1. 0.99 0.99 0.99 rs6872614 . . . . . . . . . . . . . 0.397 0.106 T 0.0 0.026 B 0.0 0.013 B 0.062 0.221 N 1 0.090 P -1.135 0.009 N 4.68 0.017 T 1.7 0.006 N 0.019 0.004 -1.012 0.262 T 0.000 0.000 T . . . 1.194 0.209 11.72 0.967 0.303 0.030 0.078 N c -0.759 -0.561 1.000 0.500 0.603 0.348 0 1.9 0.247 2.710 0.466 -0.287 0.084 1.000 0.715 0.993 0.574 5.100 0.140 Cadherin|Cadherin-like . . 0.9967 0.9992 0.9980 0.9837 1 0.9993 0.9956 0.9965 0.9987 0.9973 0.9984 1 0.9801 1 0.9986 0.9960 1 hom 3484.39 109 5 150942919 . A G 3484.39 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5657;MQ=59.58;MQ0=0;QD=31.97;VQSLOD=8.3295;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3484,265,0 5 150942969 150942969 G A exonic FAT2 nonsynonymous SNV FAT2:NM_001447:exon2:c.C3491T:p.P1164L 0.36 0.3 0.43 0.31 0.49 0.33 0.4447 0.3264 0.3054 0.3154 0.5203 0.5231 0.4714 0.3362 0.45 0.33 0.51 0.27 0.61 rs2304053 COSM3761049 3(large_intestine) . . . . . . . . . . . 0.074 0.346 T 0.752 0.414 P 0.366 0.416 B 0.004 0.345 N 0.000 0.499 P 1.22 0.307 L 0.17 0.605 T -5.69 0.873 D 0.095 0.095 -0.894 0.486 T 0.000 0.000 T . . . 2.394 0.349 18.78 0.965 0.295 0.884 0.481 D c -0.007 0.024 1.000 0.500 0.487 0.133 0 2.07 0.259 2.400 0.439 1.048 0.713 0.995 0.385 0.988 0.529 7.468 0.263 Cadherin|Cadherin-like . . 0.4453 0.3200 0.3198 0.5167 0.3255 0.5302 0.5221 0.4810 0.3430 0.4554 0.3197 0.3756 0.5662 0.3154 0.5292 0.5316 0.4969 hom 4702.47 149 5 150942969 . G A 4702.47 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=31.56;VQSLOD=9.5950;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4702,370,0 5 150943085 150943085 G A exonic FAT2 synonymous SNV FAT2:NM_001447:exon2:c.C3375T:p.I1125I 0.41 0.41 0.45 0.36 0.49 0.36 0.4657 0.4214 0.3243 0.3481 0.5393 0.5328 0.4901 0.3524 0.49 0.42 0.52 0.37 0.62 rs2304054 COSM3761050 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4648 0.4152 0.3377 0.5301 0.3609 0.5507 0.5305 0.4978 0.3591 0.4884 0.4079 0.3962 0.5894 0.3449 0.5470 0.5382 0.5165 hom 3763.91 114 5 150943085 . G A 3763.91 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.81;MQ0=0;QD=33.02;VQSLOD=9.8264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3764,295,0 5 150945483 150945483 C T exonic FAT2 nonsynonymous SNV FAT2:NM_001447:exon1:c.G3010A:p.G1004S 0.4 0.38 0.45 0.36 0.49 0.36 0.4622 0.3909 0.3221 0.3452 0.5382 0.5324 0.4877 0.3522 0.48 0.39 0.52 0.36 0.61 rs3734055 COSM3761051 2(large_intestine) . . . . . . . . . . . 0.341 0.127 T 0.001 0.067 B 0.007 0.121 B 0.010 0.303 N 1.000 0.202 P 0.855 0.214 L 0.76 0.499 T 0.75 0.020 N 0.031 0.012 -0.911 0.468 T 0.000 0.000 T . . . 1.519 0.245 13.41 0.951 0.257 0.103 0.157 N c -0.800 -0.659 1.000 0.443 0.516 0.203 0 3.19 0.356 0.373 0.201 -0.208 0.100 0.158 0.235 0.963 0.446 4.932 0.132 Cadherin|Cadherin-like ENSG00000086570.8 Brain_Nucleus_accumbens_basal_ganglia 0.4618 0.3842 0.3359 0.5297 0.3587 0.5499 0.5298 0.4973 0.3587 0.4800 0.3792 0.3950 0.5894 0.3459 0.5461 0.5382 0.5102 hom 1929.38 60 5 150945483 . C T 1929.38 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.38;MQ0=0;QD=32.16;VQSLOD=9.9356;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1962,156,0 5 150945699 150945699 G A exonic FAT2 synonymous SNV FAT2:NM_001447:exon1:c.C2794T:p.L932L 0.42 0.44 0.45 0.36 0.49 0.36 0.4674 0.4455 0.3255 0.3461 0.5383 0.5323 0.49 0.3523 0.5 0.44 0.52 0.38 0.6 rs10085060 COSM3761052 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4660 0.4387 0.3385 0.5300 0.3588 0.5500 0.5303 0.4982 0.3589 0.4954 0.4331 0.3962 0.5894 0.3465 0.5458 0.5387 0.5102 hom 1843.76 57 5 150945699 . G A 1843.76 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=32.35;VQSLOD=9.4862;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1877,156,0 5 150945862 150945862 A G exonic FAT2 synonymous SNV FAT2:NM_001447:exon1:c.T2631C:p.V877V 0.42 0.44 0.45 0.36 0.49 0.36 0.4678 0.4466 0.3258 0.3463 0.5392 0.5327 0.4923 0.3525 0.5 0.44 0.52 0.38 0.62 rs3734057 COSM3761053 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4663 0.4397 0.3388 0.5301 0.3593 0.5505 0.5304 0.4991 0.3589 0.4957 0.4327 0.3962 0.5894 0.3443 0.5467 0.5391 0.5133 hom 5257.55 157 5 150945862 . A G 5257.55 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4038;MQ=59.85;MQ0=0;QD=33.49;VQSLOD=8.8823;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5257,406,0 5 150945931 150945931 C T exonic FAT2 synonymous SNV FAT2:NM_001447:exon1:c.G2562A:p.R854R 0.42 0.44 0.45 0.36 0.49 0.36 0.4679 0.4465 0.3257 0.3457 0.5390 0.5327 0.4923 0.3527 0.5 0.44 0.52 0.38 0.61 rs3734058 COSM3761054 2(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4663 0.4395 0.3387 0.5305 0.3588 0.5506 0.5305 0.4989 0.3590 0.4955 0.4331 0.3962 0.5894 0.3437 0.5459 0.5388 0.5134 hom 4652.99 150 5 150945931 . C T 4652.99 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.57;MQ0=0;QD=30.81;VQSLOD=9.3855;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,149:150:99:4652,373,0 5 150946132 150946132 G A exonic FAT2 synonymous SNV FAT2:NM_001447:exon1:c.C2361T:p.I787I 0.42 0.44 0.45 0.36 0.49 0.36 0.4678 0.4467 0.3255 0.3457 0.5398 0.5327 0.4934 0.3524 0.5 0.44 0.52 0.38 0.61 rs3734059 COSM4003411 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4662 0.4397 0.3388 0.5300 0.3589 0.5505 0.5305 0.4985 0.3589 0.4953 0.4325 0.3959 0.5894 0.3437 0.5461 0.5390 0.5112 hom 3085.06 98 5 150946132 . G A 3085.06 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4809;MQ=59.10;MQ0=0;QD=31.48;VQSLOD=9.0431;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,97:98:99:3118,250,0 5 150946436 150946436 A G exonic FAT2 nonsynonymous SNV FAT2:NM_001447:exon1:c.T2057C:p.F686S 0.42 0.44 0.45 0.36 0.49 0.36 0.4679 0.4473 0.3257 0.3460 0.5393 0.5329 0.4923 0.3523 0.5 0.45 0.52 0.38 0.62 rs9324700 COSM3761055 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.380 N 1.000 0.090 P -2.47 0.001 N 1.07 0.396 T 3.54 0.001 N 0.043 0.023 -0.934 0.435 T 0.000 0.000 T . . . -0.474 0.057 0.254 0.168 0.005 0.040 0.094 N c -0.893 -0.684 1.000 0.747 0.487 0.133 0 4.68 0.582 5.725 0.679 -0.282 0.084 0.998 0.411 0.330 0.242 11.052 0.469 . ENSG00000086570.8 Brain_Nucleus_accumbens_basal_ganglia 0.4665 0.4407 0.3389 0.5301 0.3592 0.5504 0.5307 0.4991 0.3588 0.4961 0.4348 0.3981 0.5894 0.3451 0.5464 0.5389 0.5112 hom 6542.59 204 5 150946436 . A G 6542.59 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7866;MQ=58.88;MQ0=0;QD=32.07;VQSLOD=9.6745;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:6542,503,0 5 150946773 150946773 G A exonic FAT2 nonsynonymous SNV FAT2:NM_001447:exon1:c.C1720T:p.R574C 0.42 0.44 0.45 0.36 0.49 0.36 0.4673 0.4424 0.3255 0.3464 0.5393 0.5327 0.4923 0.3511 0.49 0.44 0.52 0.37 0.62 rs1432862 COSM3761056 2(large_intestine) . . . . . . . . . . . 0.017 0.512 D 0.99 0.615 D 0.659 0.509 P 0.551 0.114 N 0.008 0.415 P 2.525 0.740 M 0.72 0.510 T -1.36 0.338 N 0.126 0.143 -0.915 0.462 T 0.000 0.000 T . . . 4.505 0.603 24.3 0.999 0.952 0.948 0.620 D c 0.242 0.128 1.000 0.747 0.516 0.203 0 4.33 0.509 6.758 0.745 0.953 0.551 1.000 0.715 0.086 0.183 15.660 0.768 Cadherin|Cadherin-like ENSG00000086570.8 Brain_Nucleus_accumbens_basal_ganglia 0.4658 0.4350 0.3382 0.5301 0.3593 0.5505 0.5306 0.4984 0.3574 0.4950 0.4307 0.3971 0.5894 0.3451 0.5461 0.5387 0.5165 hom 5305.12 157 5 150946773 . G A 5305.12 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.85;MQ0=0;QD=33.79;VQSLOD=9.0231;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5305,415,0 5 150946966 150946966 G A exonic FAT2 synonymous SNV FAT2:NM_001447:exon1:c.C1527T:p.P509P 0.87 0.9 0.77 0.78 0.94 0.91 0.8864 0.8984 0.5921 0.7930 0.9173 0.9390 0.8998 0.9082 0.92 0.9 0.93 0.81 0.93 rs1465690 COSM5009605 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8736 0.8955 0.6108 0.9329 0.7927 0.9162 0.9377 0.8904 0.9096 0.9089 0.9004 0.6782 0.9272 0.7923 0.9221 0.9352 0.9172 hom 2947.06 92 5 150946966 . G A 2947.06 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5362;MQ=59.34;MQ0=0;QD=32.03;VQSLOD=9.5224;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2980,232,0 5 150947719 150947719 C T exonic FAT2 synonymous SNV FAT2:NM_001447:exon1:c.G774A:p.S258S . . . . . . 0.4683 0.4470 0.3264 0.3471 0.5402 0.5333 0.4922 0.3523 0.5 0.44 0.52 0.38 0.63 rs3734060 COSM1435330 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4662 0.4391 0.3387 0.5300 0.3590 0.5506 0.5306 0.4993 0.3585 0.4960 0.4333 0.3962 0.5894 0.3448 0.5464 0.5394 0.5143 hom 3063.70 92 5 150947719 . C T 3063.70 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9339;MQ=60.00;MQ0=0;QD=33.30;VQSLOD=9.2922;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3097,244,0 5 150947891 150947891 C G exonic FAT2 nonsynonymous SNV FAT2:NM_001447:exon1:c.G602C:p.G201A 0.0022 . . . 0.007 0.0041 0.0051 0.0003 0.0012 0 0.0367 0.0049 0.0066 0.0012 0.0024 0.0005 0.0034 . . rs11739693 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.629 D 1 0.810 D 4.54 0.991 H -2.84 0.913 D -5.41 0.851 D 0.896 0.885 0.880 0.954 D 0.873 0.958 D . . . 4.739 0.635 24.7 0.998 0.887 0.965 0.693 D c 0.843 0.709 1.0 0.983 0.487 0.133 0 5.51 0.817 7.842 0.850 0.892 0.403 1.000 0.715 0.642 0.297 19.416 0.947 Cadherin|Cadherin-like . . 0.0055 0.0002 0.0018 0.0001 5.798e-05 0.0354 0.0040 0.0053 0.0011 0.0062 0.0005 0 0 0 0.0312 0.0049 0.0051 het 2565.08 176 5 150947891 . C G 2565.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.287;DP=176;Dels=0.00;FS=1.978;HRun=0;HaplotypeScore=1.9990;MQ=60.00;MQ0=0;MQRankSum=-0.311;QD=14.57;ReadPosRankSum=-0.856;VQSLOD=5.5966;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,93:176:99:2595,0,2424 5 151771817 151771817 C T exonic NMUR2 nonsynonymous SNV NMUR2:NM_020167:exon4:c.G1183A:p.A395T 1. 1. 1. 1. 0.99 1. 0.9984 0.9996 0.9990 1 0.9998 0.9978 0.9989 0.9984 1. 1. 1. 1. 1. rs1363422 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.029 0.017 N 1 0.090 P -1.15 0.009 N -0.48 0.703 T 0.9 0.016 N 0.049 0.030 -0.947 0.415 T 0.000 0.000 T . . . -0.523 0.054 0.193 0.068 0.000 0.002 0.012 N c -1.351 -1.216 0.000 0.012 0.487 0.133 0 1.97 0.252 0.787 0.263 0.119 0.209 0.835 0.300 0.003 0.074 8.017 0.294 . . . 0.9985 0.9995 0.9991 0.9990 1 0.9998 0.9978 0.9973 0.9984 0.9990 0.9995 0.9988 1 1 1 0.9983 0.9990 hom 4614.34 153 5 151771817 . C T 4614.34 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9142;MQ=58.92;MQ0=0;QD=30.16;VQSLOD=9.1404;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4613,370,0 5 151771838 151771838 T C exonic NMUR2 nonsynonymous SNV NMUR2:NM_020167:exon4:c.A1162G:p.M388V 0.12 0.012 0.3 0.026 0.2 0.17 0.1745 0.0423 0.3611 0.0296 0.1824 0.1759 0.1817 0.1946 0.14 0.053 0.18 0.098 0.25 rs4958531 COSM4417296 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.007 N 1 0.090 P -1.32 0.007 N -0.28 0.676 T 0.6 0.025 N 0.009 0.001 -1.092 0.052 T 0.000 0.000 T . . . -3.589 0.000 0.001 0.205 0.007 0.014 0.047 N c -2.372 -2.355 0.001 0.084 0.487 0.133 0 -7.17 0.014 -0.471 0.067 -1.791 0.007 0.001 0.137 0.000 0.016 2.861 0.052 . ENSG00000145888.6|ENSG00000145888.6|ENSG00000132911.4|ENSG00000132911.4|ENSG00000132911.4 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Nerve_Tibial|Thyroid 0.1847 0.0407 0.3536 0.1525 0.0321 0.1759 0.1811 0.1749 0.1897 0.1414 0.0412 0.2924 0.1457 0.0324 0.1811 0.1907 0.1883 het 1152.99 147 5 151771838 . T C 1152.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.231;DP=147;Dels=0.00;FS=2.232;HRun=0;HaplotypeScore=1.9258;MQ=58.94;MQ0=0;MQRankSum=0.031;QD=7.84;ReadPosRankSum=-1.054;VQSLOD=5.8679;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,51:147:99:1183,0,2695 5 151771852 151771852 G A exonic NMUR2 nonsynonymous SNV NMUR2:NM_020167:exon4:c.C1148T:p.P383L 0.12 0.012 0.3 0.026 0.2 0.17 0.1745 0.0423 0.3611 0.0296 0.1823 0.1759 0.1817 0.1946 0.14 0.053 0.18 0.098 0.25 rs4958532 COSM4418418 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.005 0.632 D 0.02 0.170 B 0.012 0.149 B 0.012 0.013 N 0.625 0.307 P 1.665 0.427 L -0.42 0.695 T -2.58 0.556 D 0.085 0.080 -1.083 0.068 T 0.000 0.000 T . . . 2.049 0.307 16.53 0.914 0.201 0.466 0.276 N c -0.698 -0.711 0.000 0.053 0.487 0.133 0 3.38 0.376 3.989 0.564 0.106 0.201 0.806 0.296 0.927 0.401 11.493 0.495 . ENSG00000145888.6|ENSG00000145888.6|ENSG00000132911.4|ENSG00000132911.4|ENSG00000132911.4 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Nerve_Tibial|Thyroid 0.1847 0.0407 0.3537 0.1524 0.0321 0.1759 0.1811 0.1747 0.1897 0.1416 0.0412 0.2924 0.1457 0.0323 0.1809 0.1911 0.1889 het 1188.20 146 5 151771852 . G A 1188.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.002;DP=146;Dels=0.00;FS=4.245;HRun=0;HaplotypeScore=5.4609;MQ=58.91;MQ0=0;MQRankSum=0.254;QD=8.14;ReadPosRankSum=-1.069;VQSLOD=4.3280;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:98,48:146:99:1218,0,2865 5 151772055 151772055 G T exonic NMUR2 nonsynonymous SNV NMUR2:NM_020167:exon4:c.C945A:p.F315L 0.12 0.012 0.3 0.026 0.2 0.17 0.1764 0.0426 0.3608 0.0296 0.1822 0.1767 0.1854 0.2066 0.14 0.053 0.18 0.098 0.25 rs1895245 COSM4418473 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.439 0.093 T 0.01 0.144 B 0.01 0.139 B 0.003 0.357 N 0.151 0.352 P -0.155 0.043 N 1.61 0.284 T -4.12 0.750 D 0.096 0.097 -0.952 0.406 T 0.000 0.000 T . . . 0.804 0.171 9.487 0.936 0.229 0.865 0.455 D c -1.137 -0.941 0.000 0.012 0.487 0.133 0 2.2 0.268 1.554 0.356 -0.208 0.100 1.000 0.715 0.996 0.625 9.623 0.387 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000145888.6|ENSG00000145888.6|ENSG00000132911.4|ENSG00000132911.4|ENSG00000132911.4 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Nerve_Tibial|Thyroid 0.1850 0.0407 0.3539 0.1527 0.0321 0.1767 0.1812 0.1750 0.1903 0.1415 0.0410 0.2919 0.1457 0.0322 0.1808 0.1908 0.1914 het 1256.75 111 5 151772055 . G T 1256.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.115;DP=111;Dels=0.00;FS=3.038;HRun=0;HaplotypeScore=4.5438;MQ=58.20;MQ0=0;MQRankSum=0.642;QD=11.32;ReadPosRankSum=1.215;VQSLOD=5.0990;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,47:111:99:1287,0,1713 5 151775064 151775064 C G exonic NMUR2 nonsynonymous SNV NMUR2:NM_020167:exon3:c.G893C:p.S298T 0.12 0.012 0.3 0.026 0.2 0.17 0.1744 0.0423 0.3608 0.0296 0.1824 0.1758 0.1817 0.1946 0.14 0.053 0.18 0.087 0.25 rs4958535 COSM3852952 1(breast);1(stomach);1(haematopoietic_and_lymphoid_tissue);1(skin);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.39 0.006 N -0.48 0.703 T 2.68 0.002 N 0.015 0.002 -1.042 0.166 T 0.000 0.000 T . . . 0.855 0.175 9.796 0.218 0.008 0.052 0.109 N c -0.886 -0.634 0.000 0.012 0.487 0.133 0 2.97 0.333 4.197 0.580 0.136 0.221 1.000 0.715 0.995 0.604 5.795 0.175 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000145888.6|ENSG00000145888.6|ENSG00000132911.4|ENSG00000132911.4|ENSG00000132911.4 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Nerve_Tibial|Thyroid 0.1845 0.0405 0.3534 0.1523 0.0321 0.1759 0.1809 0.1743 0.1895 0.1416 0.0412 0.2919 0.1457 0.0317 0.1811 0.1909 0.1916 het 2286.11 156 5 151775064 . C G 2286.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.142;DP=156;Dels=0.00;FS=3.725;HRun=0;HaplotypeScore=9.4813;MQ=59.00;MQ0=0;MQRankSum=-0.766;QD=14.65;ReadPosRankSum=-0.887;VQSLOD=3.6763;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,84:156:99:2316,0,1839 5 153029960 153029960 T C exonic GRIA1 synonymous SNV GRIA1:NM_001258019:exon3:c.T291C:p.I97I,GRIA1:NM_000827:exon4:c.T531C:p.I177I,GRIA1:NM_001114183:exon4:c.T531C:p.I177I,GRIA1:NM_001258021:exon4:c.T561C:p.I187I,GRIA1:NM_001258022:exon4:c.T561C:p.I187I,GRIA1:NM_001258023:exon4:c.T324C:p.I108I,GRIA1:NM_001258020:exon5:c.T246C:p.I82I 0.16 0.098 0.28 0.02 0.32 0.11 0.2598 0.1470 0.2307 0.0278 0.3340 0.3353 0.2406 0.1389 0.27 0.15 0.34 0.18 0.41 rs707176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2599 0.1419 0.2324 0.2847 0.0307 0.3291 0.3357 0.2814 0.1403 0.2671 0.1552 0.2243 0.2781 0.0259 0.3339 0.3435 0.2914 hom 4602.39 153 5 153029960 . T C 4602.39 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7757;MQ=57.31;MQ0=0;QD=30.08;VQSLOD=6.9437;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:153:99:4602,364,0 5 153413390 153413390 C T exonic FAM114A2 nonsynonymous SNV FAM114A2:NM_001317995:exon3:c.G154A:p.G52S,FAM114A2:NM_001317994:exon4:c.G364A:p.G122S,FAM114A2:NM_018691:exon4:c.G364A:p.G122S,FAM114A2:NM_001317993:exon5:c.G364A:p.G122S 0.72 0.63 0.72 0.86 0.63 0.79 0.6749 0.6450 0.7977 0.8798 0.6228 0.6277 0.6678 0.7128 0.63 0.65 0.62 0.65 0.58 rs2578377 COSM4407333 2(pancreas);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.195 P -2.3 0.001 N 1.22 0.370 T 1.92 0.004 N 0.124 0.322 -0.958 0.396 T 0.000 0.000 T . . . 1.973 0.298 16.04 0.422 0.031 0.050 0.107 N c -0.695 -0.352 1.000 0.747 0.706 0.609 0 5.93 0.959 5.902 0.694 0.119 0.209 1.000 0.715 0.997 0.653 12.161 0.532 . ENSG00000055147.13 Muscle_Skeletal 0.6805 0.6479 0.7888 0.6139 0.8843 0.6293 0.6311 0.6361 0.7102 0.6598 0.6427 0.7727 0.5795 0.8910 0.6249 0.6498 0.6350 het 687.55 65 5 153413390 . C T 687.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.861;DP=65;Dels=0.00;FS=0.962;HRun=0;HaplotypeScore=0.0000;MQ=58.02;MQ0=0;MQRankSum=-1.558;QD=10.58;ReadPosRankSum=1.599;VQSLOD=3.9933;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,33:65:99:718,0,754 5 153429459 153429459 T C exonic MFAP3 synonymous SNV MFAP3:NM_001242336:exon2:c.T177C:p.D59D,MFAP3:NM_005927:exon2:c.T177C:p.D59D 0.72 0.62 0.71 0.86 0.63 0.79 0.6743 0.6429 0.7970 0.8800 0.6230 0.6272 0.6667 0.7122 0.63 0.65 0.62 0.65 0.61 rs690592 COSM3722516 1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6797 0.6461 0.7872 0.6155 0.8842 0.6292 0.6301 0.6349 0.7092 0.6578 0.6397 0.7691 0.5795 0.8932 0.6239 0.6477 0.6355 het 622.25 47 5 153429459 . T C 622.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.904;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;MQRankSum=0.904;QD=13.24;ReadPosRankSum=0.117;VQSLOD=6.7379;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:23,24:47:99:652,0,615 5 153432733 153432733 T C exonic MFAP3 synonymous SNV MFAP3:NM_001135037:exon2:c.T111C:p.A37A,MFAP3:NM_001242336:exon3:c.T549C:p.A183A,MFAP3:NM_005927:exon3:c.T549C:p.A183A 0.72 0.62 0.72 0.86 0.63 0.79 0.6745 0.6437 0.7963 0.8801 0.6239 0.6275 0.6674 0.7122 0.63 0.65 0.62 0.65 0.6 rs2578386 COSM4407095 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6799 0.6469 0.7870 0.6158 0.8840 0.6295 0.6304 0.6354 0.7093 0.6579 0.6402 0.7680 0.5795 0.8901 0.6239 0.6481 0.6358 het 1115.12 76 5 153432733 . T C 1115.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.982;DP=76;Dels=0.00;FS=0.887;HRun=1;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=-0.349;QD=14.67;ReadPosRankSum=0.910;VQSLOD=5.8950;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,40:76:99:1145,0,969 5 153432970 153432970 C T exonic MFAP3 synonymous SNV MFAP3:NM_001135037:exon2:c.C348T:p.D116D,MFAP3:NM_001242336:exon3:c.C786T:p.D262D,MFAP3:NM_005927:exon3:c.C786T:p.D262D 0.72 0.62 0.72 0.86 0.63 0.79 0.6742 0.6451 0.7965 0.8798 0.6228 0.6267 0.6689 0.7121 0.63 0.65 0.62 0.65 0.59 rs2255493 COSM4407072 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6798 0.6481 0.7871 0.6157 0.8841 0.6292 0.6300 0.6352 0.7093 0.6589 0.6426 0.7698 0.5795 0.8907 0.6234 0.6487 0.6357 het 887.23 87 5 153432970 . C T 887.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DP=87;Dels=0.00;FS=3.009;HRun=0;HaplotypeScore=5.2528;MQ=58.33;MQ0=0;MQRankSum=-0.573;QD=10.20;ReadPosRankSum=0.918;VQSLOD=4.7030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,36:87:99:917,0,1284 5 154203121 154203121 C T exonic FAXDC2 nonsynonymous SNV FAXDC2:NM_032385:exon6:c.G398A:p.R133H 0.034 0.0038 0.048 0.0089 0.072 0.053 0.0676 0.0145 0.0315 0.0052 0.0939 0.0876 0.0889 0.0643 0.067 0.014 0.092 0.054 0.11 rs17641488 COSM3761060 1(large_intestine) . . . . . . . . . . . 0.542 0.068 T 0.01 0.144 B 0.009 0.133 B 0.652 0.059 N 1 0.090 N 2.045 0.562 M 0.99 0.418 T -1.25 0.316 N 0.13 0.379 -1.055 0.129 T 0.004 0.013 T . . . 1.801 0.277 14.99 0.729 0.098 0.059 0.117 N c -0.855 -0.879 1.000 0.400 0.660 0.495 0 -0.743 0.105 -1.080 0.035 -0.035 0.126 0.000 0.063 0.897 0.379 0.508 0.005 . . . 0.0686 0.0135 0.0343 0.0719 0.0061 0.0991 0.0900 0.0789 0.0659 0.0638 0.0156 0.0395 0.0695 0.0074 0.0853 0.0933 0.0776 het 1407.37 112 5 154203121 . C T 1407.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.521;DP=112;Dels=0.00;FS=6.461;HRun=0;HaplotypeScore=4.1192;MQ=58.05;MQ0=0;MQRankSum=1.070;QD=12.57;ReadPosRankSum=2.109;VQSLOD=4.2554;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,55:112:99:1437,0,1322 5 154268902 154268902 C T exonic GEMIN5 synonymous SNV GEMIN5:NM_001252156:exon27:c.G4335A:p.A1445A,GEMIN5:NM_015465:exon27:c.G4338A:p.A1446A 0.95 0.87 0.98 0.98 0.98 0.98 0.9711 0.8765 0.9735 0.9666 0.9490 0.9848 0.9712 0.9847 0.95 0.89 0.99 0.92 0.34 rs816739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9724 0.8748 0.9723 0.9906 0.9693 0.9490 0.9851 0.9774 0.9865 0.9443 0.8717 0.9582 0.9834 0.9679 0.9499 0.9798 0.9654 hom 4173.26 142 5 154268902 . C T 4173.26 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;QD=29.39;VQSLOD=9.2606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4173,319,0 5 154271948 154271948 G A exonic GEMIN5 synonymous SNV GEMIN5:NM_001252156:exon25:c.C3756T:p.D1252D,GEMIN5:NM_015465:exon25:c.C3759T:p.D1253D 0.95 0.87 0.98 0.98 0.98 0.98 0.9713 0.8768 0.9735 0.9667 0.9488 0.9846 0.9712 0.9866 0.95 0.89 0.99 0.92 0.97 rs816736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9725 0.8752 0.9724 0.9904 0.9693 0.9489 0.9850 0.9771 0.9883 0.9444 0.8716 0.9582 0.9834 0.9679 0.9502 0.9799 0.9654 hom 2371.61 74 5 154271948 . G A 2371.61 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;QD=32.05;VQSLOD=9.8075;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2405,193,0 5 154291409 154291409 C T exonic GEMIN5 nonsynonymous SNV GEMIN5:NM_001252156:exon15:c.G2042A:p.R681Q,GEMIN5:NM_015465:exon15:c.G2045A:p.R682Q 0.82 0.67 0.78 0.89 0.89 0.89 0.8718 0.6862 0.7695 0.8926 0.8741 0.9136 0.8863 0.8791 0.84 0.7 0.91 0.79 0.94 rs1974777 . . . . . . . . . . . . . 0.655 0.048 T 0.926 0.495 P 0.185 0.344 B 0.064 0.220 N 0.960 0.261 P 0.29 0.101 N 0.24 0.596 T -0.13 0.090 N 0.169 0.204 -0.903 0.477 T 0.000 0.000 T . . . 3.277 0.453 22.8 0.984 0.405 0.811 0.403 D c -0.148 0.004 0.998 0.367 0.719 0.830 0 4.7 0.586 1.646 0.366 0.892 0.403 0.998 0.411 0.995 0.604 8.654 0.330 Quinoprotein alcohol dehydrogenase-like superfamily|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000155508.9 Muscle_Skeletal 0.8687 0.6800 0.7709 0.9050 0.8888 0.8723 0.9126 0.8801 0.8826 0.8354 0.6872 0.7632 0.9073 0.8977 0.8764 0.9057 0.8663 hom 2724.39 87 5 154291409 . C T 2724.39 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.07;MQ0=0;QD=31.31;VQSLOD=9.5226;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2757,214,0 5 154300940 154300940 A C exonic GEMIN5 synonymous SNV GEMIN5:NM_001252156:exon10:c.T1422G:p.T474T,GEMIN5:NM_015465:exon10:c.T1425G:p.T475T 0.79 0.57 0.77 0.89 0.89 0.89 0.8653 0.6170 0.7659 0.8926 0.8741 0.9132 0.8744 0.8786 0.82 0.64 0.91 0.77 0.94 rs348739 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8658 0.6131 0.7691 0.9055 0.8880 0.8724 0.9123 0.8774 0.8820 0.8164 0.6209 0.7536 0.9073 0.8974 0.8768 0.9056 0.8643 hom 2662.62 96 5 154300940 . A C 2662.62 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=58.82;MQ0=0;QD=27.74;VQSLOD=7.7403;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2696,211,0 5 154306972 154306972 T C exonic GEMIN5 synonymous SNV GEMIN5:NM_001252156:exon7:c.A1050G:p.L350L,GEMIN5:NM_015465:exon7:c.A1053G:p.L351L 0.82 0.67 0.78 0.89 0.89 0.89 0.8718 0.6852 0.7698 0.8923 0.8743 0.9136 0.8844 0.8798 0.84 0.7 0.91 0.79 0.94 rs2258437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8688 0.6795 0.7712 0.9050 0.8889 0.8723 0.9127 0.8801 0.8830 0.8352 0.6870 0.7613 0.9073 0.8988 0.8764 0.9054 0.8666 hom 3137.05 100 5 154306972 . T C 3137.05 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.77;MQ0=0;QD=31.37;VQSLOD=9.0423;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3170,244,0 5 154346325 154346325 G A exonic MRPL22 synonymous SNV MRPL22:NM_001014990:exon6:c.G249A:p.K83K,MRPL22:NM_014180:exon7:c.G489A:p.K163K 0.061 0.048 0.065 0.002 0.14 0.055 0.0985 0.0569 0.0518 0.0002 0.1475 0.1309 0.1134 0.0578 0.11 0.061 0.13 0.076 0.098 rs7965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0987 0.0554 0.0547 0.1146 0.0005 0.1495 0.1323 0.1110 0.0576 0.1116 0.0656 0.0525 0.1060 0.0006 0.1474 0.1445 0.1263 het 1952.03 163 5 154346325 . G A 1952.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.223;DP=163;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.9837;MQ=58.65;MQ0=0;MQRankSum=-0.514;QD=11.98;ReadPosRankSum=1.060;VQSLOD=4.7235;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,76:163:99:1982,0,2434 5 154395158 154395158 G T exonic KIF4B nonsynonymous SNV KIF4B:NM_001099293:exon1:c.G1739T:p.R580L 0.72 0.91 0.64 0.41 0.76 0.81 0.7117 0.8836 0.5449 0.3791 0.7474 0.7350 0.7192 0.7859 0.78 0.88 0.73 0.71 . rs6580126 COSM3761065;COSM3761064 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.192 P -2.425 0.001 N -0.25 0.670 T 1.05 0.013 N 0.03 0.011 -1.004 0.287 T 0.000 0.000 T . . . 0.356 0.128 6.225 0.176 0.005 0.002 0.010 N c -1.195 -1.102 0.277 0.189 0.646 0.450 0 1.48 0.218 2.043 0.406 -0.092 0.117 0.988 0.363 0.973 0.468 5.766 0.174 . . . 0.7019 0.8845 0.5597 0.7455 0.3873 0.7453 0.7325 0.7054 0.7852 0.7527 0.8790 0.6029 0.7583 0.3988 0.7448 0.7279 0.7439 het 1622.80 112 5 154395158 . G T 1622.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.316;DP=112;Dels=0.00;FS=7.963;HRun=1;HaplotypeScore=0.5784;MQ=59.67;MQ0=0;MQRankSum=-0.055;QD=14.49;ReadPosRankSum=-0.003;VQSLOD=4.9700;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,58:112:99:1653,0,1332 5 156376703 156376703 A G exonic TIMD4 nonsynonymous SNV TIMD4:NM_001146726:exon4:c.T719C:p.V240A,TIMD4:NM_138379:exon4:c.T719C:p.V240A 0.98 1. 0.97 1. 0.93 0.98 0.9457 0.9872 0.9777 0.9999 0.8922 0.9240 0.9218 0.9790 0.94 0.99 0.92 0.91 0.93 rs6873053 . . . . . . . . . . . . . 0.822 0.053 T 0.0 0.026 B 0.0 0.013 B 0.004 0.010 N 1 0.090 P -0.755 0.017 N 2.28 0.173 T -0.37 0.132 N 0.011 0.001 -1.011 0.267 T 0.000 0.000 T . . . -1.509 0.017 0.003 0.161 0.004 0.002 0.013 N c -1.486 -1.487 0.000 0.029 0.487 0.133 0 -0.249 0.123 -1.270 0.029 0.037 0.153 0.000 0.063 0.000 0.016 4.102 0.094 . . . 0.9439 0.9871 0.9772 0.9708 0.9999 0.8871 0.9189 0.9459 0.9778 0.9375 0.9882 0.9749 0.9768 0.9994 0.8923 0.9110 0.9073 het 1022.13 97 5 156376703 . A G 1022.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.526;DP=97;Dels=0.00;FS=3.959;HRun=0;HaplotypeScore=2.4167;MQ=59.18;MQ0=0;MQRankSum=2.081;QD=10.54;ReadPosRankSum=-1.230;VQSLOD=5.4126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,42:97:99:1052,0,1490 5 156479424 156479424 A C exonic HAVCR1 synonymous SNV HAVCR1:NM_012206:exon3:c.T621G:p.T207T,HAVCR1:NM_001173393:exon4:c.T621G:p.T207T,HAVCR1:NM_001308156:exon4:c.T621G:p.T207T 0.91 0.87 0.92 0.99 0.84 0.96 0.8847 0.8805 0.9387 0.9891 0.8549 0.8476 0.8622 0.9579 0.85 0.88 0.84 0.77 0.85 rs1553317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8844 0.8795 0.9360 0.9012 0.9894 0.8469 0.8403 0.8719 0.9558 0.8578 0.8736 0.9236 0.9106 0.9926 0.8523 0.8320 0.8357 het 3195.88 249 5 156479424 . A C 3195.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.801;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7998;MQ=56.91;MQ0=0;MQRankSum=-0.801;QD=12.83;ReadPosRankSum=0.772;VQSLOD=4.1810;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,115:249:99:3226,0,4031 5 156479558 156479572 TTGGAACAGTCGTCA - exonic HAVCR1 nonframeshift deletion HAVCR1:NM_012206:exon3:c.473_487del:p.M158_P162del,HAVCR1:NM_001173393:exon4:c.473_487del:p.M158_P162del,HAVCR1:NM_001308156:exon4:c.473_487del:p.M158_P162del 0.58 0.26 0.68 0.76 0.63 0.72 0.6313 0.3316 0.7964 0.7905 0.6680 0.6079 0.5922 0.6930 0.57 0.49 0.61 0.011 . rs6149307 COSM4589994;COSM1619912 1(liver);22(upper_aerodigestive_tract);1(large_intestine);4(central_nervous_system);2(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6398 0.3295 0.7856 0.5770 0.7849 0.6545 0.6069 0.6100 0.6880 0.6196 0.4637 0.7794 0.6364 0.8133 0.6781 0.6423 0.6475 het 8797.57 250 5 156479557 . GTTGGAACAGTCGTCA G 8797.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=12.893;DP=250;DS;FS=29.743;HRun=0;HaplotypeScore=3270.1911;MQ=54.89;MQ0=0;MQRankSum=-3.808;QD=35.19;ReadPosRankSum=2.112;set=variant2 GT:AD:DP:GQ:PL 0/1:124,126:250:99:8798,0,14468 5 156482459 156482459 G T exonic HAVCR1 synonymous SNV HAVCR1:NM_012206:exon2:c.C132A:p.S44S,HAVCR1:NM_001173393:exon3:c.C132A:p.S44S,HAVCR1:NM_001308156:exon3:c.C132A:p.S44S 0.91 0.86 0.92 0.99 0.84 0.96 0.8846 0.8676 0.9382 0.9891 0.8551 0.8495 0.8611 0.9573 0.85 0.87 0.84 0.94 0.84 rs1809941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8844 0.8661 0.9359 0.9012 0.9896 0.8472 0.8422 0.8724 0.9549 0.8545 0.8602 0.9212 0.9106 0.9926 0.8520 0.8334 0.8330 het 1060.70 79 5 156482459 . G T 1060.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.043;DP=79;Dels=0.00;FS=0.844;HRun=1;HaplotypeScore=0.9665;MQ=59.09;MQ0=0;MQRankSum=-0.172;QD=13.43;ReadPosRankSum=-0.526;VQSLOD=5.8917;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:1091,0,1176 5 156590355 156590355 A G exonic FAM71B synonymous SNV FAM71B:NM_130899:exon2:c.T921C:p.G307G 0.15 0.36 0.11 0.014 0.14 0.053 0.1316 0.3481 0.0722 0.0135 0.1122 0.1418 0.1377 0.0651 0.21 0.34 0.15 0.17 0.16 rs31220 COSM3761067 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1258 0.3427 0.0779 0.1190 0.0118 0.1178 0.1457 0.1393 0.0676 0.1902 0.3355 0.1002 0.1433 0.0099 0.1209 0.1510 0.1344 het 2768.34 228 5 156590355 . A G 2768.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.500;DP=228;Dels=0.00;FS=8.682;HRun=1;HaplotypeScore=2.9318;MQ=58.86;MQ0=0;MQRankSum=-0.059;QD=12.14;ReadPosRankSum=-0.336;VQSLOD=4.9725;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:129,99:228:99:2798,0,3351 5 156721863 156721863 - C exonic CYFIP2 frameshift insertion CYFIP2:NM_001037333:exon4:c.280dupC:p.Q95Pfs*14,CYFIP2:NM_001291722:exon4:c.280dupC:p.Q95Pfs*14,CYFIP2:NM_014376:exon4:c.280dupC:p.Q95Pfs*14 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 0.9999 1. 1. 1. . . rs5872508 COSM4603083;COSM4603084;COSM4603082 1(skin);22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 0.9999 1 1 1.0000 1.0000 1 1.0000 1 1 1 1 1 1 1 1 hom 2281.15 58 5 156721863 . T TC 2281.15 Mask AC=2;AF=1.00;AN=2;DP=58;FS=0.000;HRun=3;HaplotypeScore=117.3606;MQ=60.35;MQ0=0;QD=39.33;set=variant2 GT:AD:DP:GQ:PL 1/1:2,56:58:99:2323,169,0 5 156747669 156747669 A G exonic CYFIP2 synonymous SNV CYFIP2:NM_001291721:exon14:c.A1452G:p.L484L,CYFIP2:NM_001037333:exon15:c.A1530G:p.L510L,CYFIP2:NM_001291722:exon15:c.A1530G:p.L510L,CYFIP2:NM_014376:exon15:c.A1530G:p.L510L 0.33 0.53 0.2 0.27 0.27 0.29 0.2837 0.4822 0.1266 0.2707 0.3033 0.2755 0.2712 0.3085 0.33 0.47 0.27 0.37 . rs1823035 COSM5505179;COSM5505180;COSM5505178;COSM5505177 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2757 0.4892 0.1334 0.3442 0.2703 0.3125 0.2673 0.2677 0.3119 0.3264 0.4731 0.1623 0.3278 0.2787 0.3177 0.2600 0.2872 het 1119.50 80 5 156747669 . A G 1119.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.764;DP=80;Dels=0.00;FS=1.867;HRun=0;HaplotypeScore=1.5115;MQ=58.32;MQ0=0;MQRankSum=0.434;QD=13.99;ReadPosRankSum=1.737;VQSLOD=5.4182;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,43:80:99:1149,0,902 5 156770209 156770209 G A exonic FNDC9 synonymous SNV FNDC9:NM_001001343:exon2:c.C336T:p.S112S 0.27 0.39 0.16 0.3 0.17 0.28 0.2029 0.3455 0.1225 0.2969 0.2470 0.1609 0.1949 0.2728 0.22 0.34 0.16 0.22 0.13 rs10214194 COSM4003426 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1998 0.3482 0.1260 0.1512 0.2949 0.2572 0.1595 0.1743 0.2777 0.2293 0.3296 0.1265 0.1523 0.3060 0.2487 0.1668 0.2122 het 1470.29 98 5 156770209 . G A 1470.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.795;DP=98;Dels=0.00;FS=2.629;HRun=0;HaplotypeScore=1.9980;MQ=58.95;MQ0=0;MQRankSum=0.749;QD=15.00;ReadPosRankSum=-1.576;VQSLOD=6.0045;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,53:98:99:1500,0,1229 5 156899869 156899869 T C exonic NIPAL4 synonymous SNV NIPAL4:NM_001172292:exon5:c.T1245C:p.V415V,NIPAL4:NM_001099287:exon6:c.T1302C:p.V434V 0.99 1. 0.98 1. 0.96 0.99 0.9767 0.9938 0.9827 0.9999 0.9814 0.9671 0.9740 0.9922 0.97 0.99 0.96 1. . rs4704870 . . Benign|Benign not_specified|Congenital_ichthyosiform_erythroderma RCV000245316.1|RCV000381324.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9783 0.9937 0.9861 0.9801 0.9999 0.9820 0.9659 0.9771 0.9911 0.9770 0.9912 0.9821 0.9801 1 0.9822 0.9654 0.9654 hom 2001.27 60 5 156899869 . T C 2001.27 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=33.35;VQSLOD=9.5263;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2034,162,0 5 156936364 156936364 T C exonic ADAM19 nonsynonymous SNV ADAM19:NM_033274:exon9:c.A850G:p.S284G 0.41 0.64 0.44 0.13 0.36 0.45 0.3834 0.5965 0.4518 0.1386 0.3865 0.3464 0.3938 0.4778 0.43 0.58 0.35 0.46 0.39 rs1422795 COSM4407374;COSM4407373;COSM4407372;COSM4407371 1(liver) . . . . . . . . . . . 0.106 0.351 T 0.897 0.474 P 0.294 0.391 B 0.073 0.214 N 0.935 0.308 P 2.09 0.581 M -0.07 0.638 T -2.15 0.486 N 0.185 0.226 -0.915 0.463 T 0.000 0.000 T . . . 1.686 0.264 14.33 0.985 0.415 0.122 0.169 N c -0.377 -0.415 1.000 0.404 0.722 0.854 0 1.33 0.209 -0.213 0.092 1.061 0.807 0.000 0.063 0.998 0.697 0.422 0.004 Metallopeptidase\x2c catalytic domain|Peptidase M12B\x2c ADAM/reprolysin ENSG00000135074.11|ENSG00000135074.11|ENSG00000135074.11|ENSG00000172568.4|ENSG00000135074.11|ENSG00000135074.11|ENSG00000135074.11|ENSG00000135074.11|ENSG00000135074.11|ENSG00000135074.11|ENSG00000135074.11|ENSG00000172548.10|ENSG00000135074.11|ENSG00000135074.11|ENSG00000251405.2|ENSG00000135074.11|ENSG00000135074.11 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.3807 0.5977 0.4474 0.4258 0.1347 0.3867 0.3374 0.3774 0.4775 0.4084 0.5949 0.4511 0.3940 0.1414 0.3732 0.3369 0.3783 hom 2089.71 68 5 156936364 . T C 2089.71 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.73;MQ0=0;QD=30.73;VQSLOD=9.3098;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2123,174,0 5 157065306 157065306 G A exonic SOX30 synonymous SNV SOX30:NM_178424:exon4:c.C1812T:p.F604F,SOX30:NM_001308165:exon5:c.C897T:p.F299F 0.097 0.0053 0.078 0.12 0.14 0.17 0.1266 0.0251 0.0559 0.1468 0.1517 0.1357 0.1407 0.2006 0.1 0.026 0.14 0.098 0.14 rs35793864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1222 0.0232 0.0610 0.1502 0.1382 0.1508 0.1314 0.1325 0.1690 0.0977 0.0233 0.0562 0.1159 0.1406 0.1482 0.1253 0.1155 het 1123.29 74 5 157065306 . G A 1123.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.213;DP=74;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8533;MQ=59.44;MQ0=0;MQRankSum=-0.206;QD=15.18;ReadPosRankSum=1.970;VQSLOD=5.5996;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,42:74:99:1153,0,722 5 157164962 157164962 T C exonic THG1L nonsynonymous SNV THG1L:NM_001317824:exon5:c.T299C:p.L100P,THG1L:NM_001317825:exon5:c.T320C:p.L107P,THG1L:NM_017872:exon5:c.T695C:p.L232P,THG1L:NM_001317826:exon6:c.T509C:p.L170P 0.71 0.77 0.51 0.81 0.65 0.72 0.6611 0.7468 0.4291 0.8046 0.6561 0.6587 0.6289 0.7090 0.68 0.75 0.65 0.74 0.61 rs2270812 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.013 0.404 P -2.395 0.001 N 1.42 0.332 T 7.29 0.000 N 0.544 0.581 -0.951 0.408 T 0.000 0.000 T . . . 1.717 0.267 14.51 0.179 0.005 0.146 0.183 N c -0.820 -0.480 1.000 0.747 0.707 0.730 0 5.58 0.843 4.887 0.626 0.016 0.142 1.000 0.715 0.629 0.294 15.078 0.716 Thg1 C-terminal domain . . 0.6511 0.7458 0.4515 0.7197 0.8084 0.6553 0.6517 0.6424 0.7072 0.6807 0.7359 0.4652 0.7417 0.7897 0.6658 0.6531 0.6510 het 1183.24 102 5 157164962 . T C 1183.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.969;DP=102;Dels=0.00;FS=0.750;HRun=1;HaplotypeScore=3.5318;MQ=58.07;MQ0=0;MQRankSum=0.560;QD=11.60;ReadPosRankSum=-0.411;VQSLOD=5.5804;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,52:102:99:1213,0,1228 5 159344461 159344461 G A exonic ADRA1B synonymous SNV ADRA1B:NM_000679:exon1:c.G549A:p.G183G 0.2 0.17 0.19 0.35 0.18 0.13 0.1858 0.1679 0.1880 0.3662 0.1570 0.1751 0.2064 0.1544 0.17 0.16 0.18 0.17 0.16 rs3729604 COSM150006 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1835 0.1661 0.1851 0.1350 0.3600 0.1553 0.1758 0.1902 0.1542 0.1776 0.1640 0.1870 0.1490 0.3625 0.1638 0.1692 0.1708 het 1934.95 136 5 159344461 . G A 1934.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.712;DP=136;Dels=0.00;FS=4.301;HRun=0;HaplotypeScore=3.5243;MQ=59.83;MQ0=0;MQRankSum=-0.624;QD=14.23;ReadPosRankSum=1.087;VQSLOD=5.3202;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,73:136:99:1965,0,1880 5 159659273 159659273 C T exonic FABP6 nonsynonymous SNV FABP6:NM_001445:exon2:c.C236T:p.T79M,FABP6:NM_001040442:exon4:c.C383T:p.T128M,FABP6:NM_001130958:exon5:c.C383T:p.T128M 0.46 0.46 0.41 0.49 0.4 0.55 0.4651 0.4706 0.4898 0.5256 0.5136 0.4233 0.4755 0.5606 0.42 0.46 0.4 0.4 0.46 rs1130435 COSM5618210;COSM5618209 1(breast) . . . . . . . . . . . 0.101 0.491 T 0.037 0.298 B 0.008 0.179 B 0.000 0.843 D 0.999 0.219 P 0.345 0.112 N 1.92 0.231 T -0.08 0.082 N 0.102 0.106 -0.922 0.453 T 0.000 0.000 T . . . 3.720 0.504 23.3 0.966 0.299 0.706 0.344 D c -0.451 -0.325 1.000 0.517 0.644 0.439 0 3.48 0.388 5.421 0.660 0.150 0.237 1.000 0.715 0.999 0.750 9.694 0.391 Calycin|Calycin-like|Cytosolic fatty-acid binding . . 0.4426 0.4500 0.4736 0.4102 0.5076 0.4624 0.3959 0.4312 0.5327 0.4431 0.4532 0.4749 0.4228 0.5380 0.4920 0.4108 0.4939 hom 1226.58 40 5 159659273 . C T 1226.58 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6643;MQ=58.84;MQ0=0;QD=30.66;VQSLOD=9.1436;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1260,99,0 5 159835658 159835658 A G exonic SLU7 nonsynonymous SNV SLU7:NM_006425:exon7:c.T686C:p.M229T . . . . . . 0.7070 0.5343 0.7582 0.5359 0.7176 0.7386 0.7263 0.7355 0.68 0.56 0.74 0.58 0.61 rs2961944 COSM4407201 1(liver);1(large_intestine) . . . . . . . . . . . 0.719 0.039 T 0.0 0.026 B 0.0 0.013 B 0.108 0.195 N 1.000 0.090 P -0.805 0.016 N 1.05 0.400 T 0.76 0.020 N 0.027 0.009 -0.976 0.359 T 0.000 0.000 T . . . -0.465 0.058 0.268 0.380 0.025 0.044 0.098 N c -1.401 -1.238 0.814 0.244 0.732 0.924 0 -2.46 0.061 0.747 0.258 -1.366 0.012 0.998 0.411 0.716 0.313 13.110 0.585 Pre-mRNA splicing Prp18-interacting factor ENSG00000221886.3|ENSG00000164609.5 Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts 0.7099 0.5341 0.7656 0.6972 0.5312 0.7124 0.7402 0.7067 0.7307 0.6657 0.5345 0.7384 0.7367 0.5424 0.7121 0.7363 0.7162 hom 1795.50 67 5 159835658 . A G 1795.50 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=56.73;MQ0=0;QD=26.80;VQSLOD=5.6320;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1829,141,0 5 159992655 159992655 T C exonic ATP10B synonymous SNV ATP10B:NM_025153:exon26:c.A4191G:p.V1397V 0.36 0.48 0.43 0.17 0.33 0.36 0.3480 0.4426 0.4456 0.1510 0.2813 0.3453 0.3408 0.3636 0.36 0.42 0.33 0.36 0.39 rs3812005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3474 0.4364 0.4384 0.4161 0.1507 0.2781 0.3414 0.3578 0.3618 0.3433 0.4360 0.4081 0.3576 0.1594 0.2675 0.3234 0.3374 het 2932.13 223 5 159992655 . T C 2932.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.216;DP=223;Dels=0.00;FS=3.787;HRun=0;HaplotypeScore=7.9154;MQ=58.75;MQ0=0;MQRankSum=0.151;QD=13.15;ReadPosRankSum=-0.391;VQSLOD=4.7718;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,107:223:99:2962,0,3066 5 160042903 160042903 G T exonic ATP10B nonsynonymous SNV ATP10B:NM_025153:exon17:c.C2595A:p.N865K 0.0094 0.0015 0.014 . 0.019 0.016 0.0152 0.0053 0.0093 0 0.0101 0.0201 0.0144 0.0158 0.017 0.0041 0.023 . 0.016 rs61734665 . . . . . . . . . . . . . 0.007 0.654 D 0.98 0.609 D 0.871 0.623 P 0.000 0.629 D 0.995 0.427 D 2.455 0.715 M 0.82 0.481 T -4.5 0.781 D 0.109 0.245 -0.922 0.453 T 0.116 0.410 T . . . 5.598 0.762 26.5 0.997 0.827 0.960 0.668 D c 0.137 0.080 0.018 0.130 0.554 0.246 0 0.907 0.184 2.292 0.430 -0.679 0.039 1.000 0.715 0.929 0.403 8.841 0.341 HAD-like domain|P-type ATPase\x2c cytoplasmic domain N;P-type ATPase\x2c cytoplasmic domain N . . 0.0160 0.0044 0.0110 0.0432 0.0002 0.0094 0.0204 0.0192 0.0157 0.0128 0.0048 0.0143 0.0430 0.0006 0.0117 0.0184 0.0122 het 2261.14 178 5 160042903 . G T 2261.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.388;DP=178;Dels=0.00;FS=3.815;HRun=2;HaplotypeScore=0.9987;MQ=59.35;MQ0=0;MQRankSum=0.336;QD=12.70;ReadPosRankSum=-0.104;VQSLOD=5.8992;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,92:178:99:2291,0,2341 5 160047759 160047759 C T exonic ATP10B nonsynonymous SNV ATP10B:NM_025153:exon15:c.G2011A:p.G671R 0.0094 0.0015 0.014 . 0.019 0.016 0.0152 0.0052 0.0094 0 0.0101 0.0201 0.0144 0.0156 0.016 0.0037 0.023 . 0.016 rs61734666 . . . . . . . . . . . . . 0.512 0.074 T 0.041 0.424 B 0.059 0.425 B 0.705 0.062 N 1 0.090 N 1.67 0.430 L -1.92 0.848 D -0.68 0.195 N 0.066 0.160 -0.635 0.634 T 0.311 0.682 T . . . 1.709 0.266 14.46 0.629 0.069 0.060 0.119 N c -0.600 -0.676 0.001 0.081 0.487 0.133 0 1.21 0.201 0.211 0.171 0.935 0.490 0.000 0.063 0.366 0.249 5.643 0.167 . . . 0.0159 0.0044 0.0110 0.0432 0.0002 0.0094 0.0203 0.0192 0.0156 0.0128 0.0048 0.0143 0.0430 0.0006 0.0117 0.0183 0.0132 het 2177.94 158 5 160047759 . C T 2177.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DP=158;Dels=0.00;FS=0.603;HRun=0;HaplotypeScore=4.7331;MQ=59.26;MQ0=0;MQRankSum=0.689;QD=13.78;ReadPosRankSum=0.185;VQSLOD=5.1621;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,75:158:99:2208,0,2315 5 160097496 160097496 A G exonic ATP10B nonsynonymous SNV ATP10B:NM_025153:exon7:c.T649C:p.C217R 0.86 0.93 0.71 0.89 0.81 0.9 0.8212 0.9205 0.6463 0.8820 0.7591 0.8186 0.8456 0.8871 0.85 0.92 0.82 0.86 0.85 rs958912 COSM3761076 1(large_intestine) . . . . . . . . . . . 0.476 0.083 T 0.0 0.026 B 0.0 0.013 B 0.019 0.273 N 0.998 0.225 P -2.07 0.002 N -0.79 0.737 T 3.4 0.001 N 0.016 0.003 -0.977 0.358 T 0.000 0.000 T . . . 0.273 0.120 5.431 0.699 0.088 0.010 0.038 N c -1.183 -1.009 0.018 0.131 0.487 0.133 0 2.34 0.279 2.501 0.448 -0.340 0.072 0.398 0.259 0.858 0.358 6.222 0.198 P-type ATPase\x2c A domain . . 0.8124 0.9213 0.6469 0.8894 0.8821 0.7729 0.8168 0.8164 0.8874 0.8350 0.9176 0.7112 0.9040 0.8686 0.7698 0.8072 0.7888 hom 7473.57 246 5 160097496 . A G 7473.57 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8598;MQ=59.53;MQ0=0;QD=30.38;VQSLOD=8.9223;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7472,620,0 5 160097632 160097632 G A exonic ATP10B synonymous SNV ATP10B:NM_025153:exon7:c.C513T:p.R171R 0.88 0.93 0.74 0.89 0.87 0.9 0.8565 0.9284 0.6629 0.8826 0.8792 0.8649 0.8744 0.8923 0.89 0.93 0.87 0.88 0.87 rs958911 COSM3761077 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8484 0.9291 0.6646 0.9092 0.8821 0.8846 0.8621 0.8554 0.8929 0.8759 0.9244 0.7297 0.9272 0.8696 0.8892 0.8541 0.8513 hom 5874.73 198 5 160097632 . G A 5874.73 Mask AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7020;MQ=59.13;MQ0=0;QD=29.67;VQSLOD=8.5647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,198:198:99:5874,472,0 5 161113004 161113004 G A exonic GABRA6 synonymous SNV GABRA6:NM_000811:exon1:c.G9A:p.S3S 0.099 0.0083 0.11 0.066 0.27 0.076 0.1893 0.0425 0.0980 0.0730 0.2677 0.2602 0.1960 0.0885 0.19 0.044 0.26 0.098 0.27 rs13188991 COSM4159698 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1912 0.0418 0.1087 0.2960 0.0751 0.2659 0.2575 0.2093 0.0895 0.1857 0.0473 0.1235 0.2848 0.0895 0.2560 0.2592 0.2244 het 2104.74 165 5 161113004 . G A 2104.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.667;DP=165;Dels=0.00;FS=0.587;HRun=0;HaplotypeScore=0.9995;MQ=59.28;MQ0=0;MQRankSum=0.662;QD=12.76;ReadPosRankSum=-0.088;VQSLOD=6.8426;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,82:165:99:2135,0,1863 5 161119071 161119071 G T exonic GABRA6 synonymous SNV GABRA6:NM_000811:exon8:c.G951T:p.A317A 0.97 0.89 0.98 1. 1. 1. 0.9902 0.8965 0.9929 1 1 0.9997 0.9923 1 0.97 0.9 1. 1. 0.99 rs12522663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9924 0.8970 0.9938 0.9999 1 1 0.9996 0.9949 0.9999 0.9699 0.8962 0.9881 1 1 1 0.9997 0.9878 hom 6421.70 193 5 161119071 . G T 6421.70 Mask AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9593;MQ=59.06;MQ0=0;QD=33.27;VQSLOD=7.2514;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,192:193:99:6395,506,0 5 161119125 161119125 C G exonic GABRA6 synonymous SNV GABRA6:NM_000811:exon8:c.C1005G:p.A335A 0.4 0.34 0.37 0.32 0.57 0.42 0.4854 0.3605 0.3266 0.2854 0.5479 0.5623 0.4923 0.4443 0.49 0.35 0.56 0.35 0.54 rs13184586 COSM4003434 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4826 0.3608 0.3429 0.5344 0.2860 0.5420 0.5648 0.4987 0.4451 0.4862 0.3513 0.3801 0.5695 0.3021 0.5499 0.5715 0.5224 het 2126.37 180 5 161119125 . C G 2126.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.003;DP=180;Dels=0.00;FS=3.428;HRun=0;HaplotypeScore=4.6738;MQ=59.36;MQ0=0;MQRankSum=0.896;QD=11.81;ReadPosRankSum=0.178;VQSLOD=5.2132;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,86:180:99:2156,0,2669 5 161128761 161128761 C G exonic GABRA6 synonymous SNV GABRA6:NM_000811:exon9:c.C1344G:p.V448V . . . . . . 0.9893 0.8867 0.9924 1 1 0.9996 0.9923 0.9999 0.96 0.89 1. 0.99 0.99 rs4277944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9917 0.8867 0.9934 0.9999 1 1 0.9996 0.9942 0.9998 0.9680 0.8895 0.9869 1 1 1 0.9996 0.9888 hom 4891.59 158 5 161128761 . C G 4891.59 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3670;MQ=59.47;MQ0=0;QD=30.96;VQSLOD=9.3536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4891,373,0 5 161528280 161528280 C T exonic GABRG2 synonymous SNV GABRG2:NM_000816:exon5:c.C588T:p.N196N,GABRG2:NM_198903:exon5:c.C588T:p.N196N,GABRG2:NM_198904:exon5:c.C588T:p.N196N 0.37 0.47 0.25 0.6 0.24 0.22 0.2854 0.4388 0.2381 0.5991 0.2824 0.2456 0.2789 0.2204 0.31 0.43 0.24 0.4 0.25 rs211037 COSM150008 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(upper_aerodigestive_tract);1(large_intestine) other|Benign|Benign not_specified|Severe_myoclonic_epilepsy_in_infancy|Generalized_epilepsy_with_febrile_seizures_plus RCV000079320.8|RCV000336371.1|RCV000393381.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C0751122:607208:230437002|C3502809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2823 0.4371 0.2349 0.2972 0.6054 0.2814 0.2417 0.2776 0.2202 0.3316 0.4330 0.2452 0.3146 0.5846 0.2914 0.2629 0.2878 het 1213.08 111 5 161528280 . C T 1213.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.290;DP=111;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.2991;MQ=58.27;MQ0=0;MQRankSum=0.374;QD=10.93;ReadPosRankSum=0.290;VQSLOD=5.6401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,56:111:99:1243,0,1372 5 162890953 162890953 G A exonic HMMR synonymous SNV HMMR:NM_001142556:exon2:c.G138A:p.Q46Q,HMMR:NM_012484:exon2:c.G138A:p.Q46Q,HMMR:NM_012485:exon2:c.G138A:p.Q46Q 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1.0000 1 1 . . . 1. 0.49 rs380101 COSM4594960 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9998 1 1 1 1 1.0000 1 1 1.0000 0.9999 1 1 1 1 1 1 hom 804.87 30 5 162890953 . G A 804.87 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.83;VQSLOD=13.2502;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:66.20:838,66,0 5 162911075 162911075 C A exonic HMMR nonsynonymous SNV HMMR:NM_001142557:exon13:c.C1525A:p.L509I,HMMR:NM_012485:exon15:c.C1738A:p.L580I,HMMR:NM_001142556:exon16:c.C1786A:p.L596I,HMMR:NM_012484:exon16:c.C1783A:p.L595I 0.035 0.0061 0.048 . 0.096 0.037 0.0945 0.0207 0.0400 0 0.1726 0.1310 0.1335 0.0454 0.091 0.024 0.13 0.011 0.025 rs2230363 . . . . . . . . . . . . . 0.023 0.481 D 0.274 0.343 B 0.069 0.266 B 0.146 0.181 N 0.993 0.287 N 2.2 0.622 M 1.99 0.217 T -0.54 0.166 N 0.07 0.058 -1.075 0.084 T 0.000 0.002 T . . . 2.652 0.380 20.5 0.973 0.329 0.839 0.427 D c -0.175 -0.097 0.186 0.179 0.732 0.924 0 2.56 0.297 1.119 0.307 -0.322 0.076 1.000 0.715 0.958 0.437 10.511 0.439 Hyaluronan-mediated motility receptor\x2c C-terminal . . 0.0949 0.0202 0.0445 0.0852 0.0001 0.1677 0.1288 0.1022 0.0458 0.0933 0.0233 0.0622 0.0828 0.0006 0.1647 0.1285 0.1082 het 802.04 67 5 162911075 . C A 802.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.675;DP=67;Dels=0.00;FS=2.117;HRun=0;HaplotypeScore=4.8751;MQ=58.37;MQ0=0;MQRankSum=-1.015;QD=11.97;ReadPosRankSum=-0.064;VQSLOD=4.6031;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:832,0,778 5 162940999 162940999 A G exonic MAT2B synonymous SNV MAT2B:NM_013283:exon4:c.A525G:p.L175L,MAT2B:NM_182796:exon4:c.A492G:p.L164L 0.082 0.037 0.084 0.013 0.17 0.12 0.1314 0.0566 0.0615 0.0086 0.2134 0.1613 0.1333 0.1374 0.12 0.054 0.15 0.054 0.098 rs11546512 COSM3761081;COSM3761082 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1286 0.0536 0.0645 0.1132 0.0077 0.2179 0.1576 0.1376 0.1358 0.1300 0.0572 0.0716 0.1291 0.0080 0.2233 0.1650 0.1646 het 955.43 88 5 162940999 . A G 955.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.339;DP=88;Dels=0.00;FS=4.114;HRun=2;HaplotypeScore=1.9945;MQ=59.26;MQ0=0;MQRankSum=-0.054;QD=10.86;ReadPosRankSum=0.775;VQSLOD=5.9182;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,40:88:99:985,0,1282 5 167489093 167489093 A T exonic TENM2 synonymous SNV TENM2:NM_001080428:exon4:c.A642T:p.I214I,TENM2:NM_001122679:exon7:c.A1338T:p.I446I 0.11 0.046 0.071 0.2 0.098 0.15 0.1088 0.0579 0.0480 0.1973 0.0603 0.1110 0.0839 0.1472 0.093 0.063 0.11 0.087 . rs72824988 COSM150010;COSM4003440;COSM4003439;COSM4003441 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1044 0.0532 0.0483 0.1106 0.1910 0.0657 0.1109 0.0981 0.1465 0.0918 0.0581 0.0578 0.1457 0.1767 0.0625 0.1098 0.0963 het 556.13 39 5 167489093 . A T 556.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.761;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2418;MQ=60.00;MQ0=0;MQRankSum=-0.042;QD=14.26;ReadPosRankSum=-0.269;VQSLOD=5.5844;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,22:39:99:586,0,450 5 167553880 167553880 C T exonic TENM2 synonymous SNV TENM2:NM_001080428:exon9:c.C1635T:p.H545H,TENM2:NM_001122679:exon12:c.C2331T:p.H777H 0.16 0.26 0.18 0.003 0.23 0.08 0.2179 0.2721 0.1379 0.0012 0.3272 0.2585 0.2384 0.1256 0.23 0.22 0.23 0.18 . rs10055910 COSM4159707;COSM4159705;COSM4159706;COSM4159704 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1889 0.2440 0.1137 0.2295 0.0007 0.2879 0.2312 0.2022 0.1101 0.2305 0.2404 0.1355 0.2152 0.0012 0.2807 0.2430 0.2377 het 458.41 24 5 167553880 . C T 458.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.147;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.193;QD=19.10;ReadPosRankSum=0.656;VQSLOD=12.6874;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,15:24:99:488,0,222 5 167674370 167674370 C T exonic TENM2 synonymous SNV TENM2:NM_001080428:exon23:c.C5709T:p.I1903I,TENM2:NM_001122679:exon27:c.C6399T:p.I2133I 0.44 0.44 0.45 0.17 0.54 0.58 0.4946 0.4456 0.4624 0.1622 0.4932 0.5334 0.4922 0.5637 0.49 0.42 0.53 0.43 . rs3733988 COSM150011;COSM4159713;COSM4159712;COSM4159714 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4955 0.4480 0.4590 0.5874 0.1666 0.4948 0.5348 0.5190 0.5674 0.4780 0.4471 0.4663 0.6358 0.1811 0.5034 0.5192 0.4847 het 2999.17 240 5 167674370 . C T 2999.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.058;DP=240;DS;Dels=0.00;FS=9.421;HRun=1;HaplotypeScore=4.4997;MQ=59.48;MQ0=0;MQRankSum=1.917;QD=12.50;ReadPosRankSum=-1.268;VQSLOD=4.0711;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,112:240:99:3029,0,3730 5 167689404 167689404 C T exonic TENM2 synonymous SNV TENM2:NM_001080428:exon25:c.C7197T:p.I2399I,TENM2:NM_001122679:exon29:c.C7887T:p.I2629I 0.043 0.078 0.022 0.019 0.037 0.043 0.0619 0.1100 0.0328 0.0369 0.0556 0.0601 0.0700 0.0625 0.043 0.063 0.033 0.054 . rs17070041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0363 0.0807 0.0168 0.0206 0.0185 0.0323 0.0382 0.0337 0.0505 0.0460 0.0738 0.0215 0.0199 0.0203 0.0361 0.0381 0.0275 het 262.09 22 5 167689404 . C T 262.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.725;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.560;QD=11.91;ReadPosRankSum=-0.231;VQSLOD=11.8495;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,10:22:99:292,0,260 5 167850748 167850748 A G exonic WWC1 synonymous SNV WWC1:NM_001161661:exon11:c.A1485G:p.S495S,WWC1:NM_001161662:exon11:c.A1485G:p.S495S,WWC1:NM_015238:exon11:c.A1485G:p.S495S 0.67 0.67 0.64 0.99 0.45 0.58 0.5444 0.6430 0.7382 0.9953 0.4958 0.4363 0.5563 0.5650 0.5 0.63 0.43 0.69 0.34 rs12054944 COSM449290 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5472 0.6390 0.7174 0.4828 0.9944 0.4967 0.4280 0.5088 0.5599 0.5422 0.6383 0.7100 0.4735 0.9951 0.5200 0.4363 0.5123 het 1707.34 129 5 167850748 . A G 1707.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.516;DP=129;Dels=0.00;FS=1.686;HRun=2;HaplotypeScore=1.8660;MQ=59.30;MQ0=0;MQRankSum=-0.167;QD=13.24;ReadPosRankSum=0.101;VQSLOD=6.5415;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,62:129:99:1737,0,2067 5 167858434 167858434 T C exonic WWC1 synonymous SNV WWC1:NM_001161661:exon15:c.T2265C:p.H755H,WWC1:NM_001161662:exon15:c.T2265C:p.H755H,WWC1:NM_015238:exon15:c.T2265C:p.H755H 0.017 . 0.0014 0.056 0.018 0.0092 0.0146 0.0013 0.0052 0.0398 0.0529 0.0120 0.0133 0.0118 0.0055 0.0014 0.0077 . 0.0082 rs3822658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0154 0.0012 0.0037 0.0354 0.0441 0.0508 0.0087 0.0187 0.0113 0.0162 0.0006 0.0036 0.0304 0.0341 0.0553 0.0144 0.0204 het 958.14 86 5 167858434 . T C 958.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.379;DP=86;Dels=0.00;FS=4.766;HRun=1;HaplotypeScore=1.8401;MQ=58.70;MQ0=0;MQRankSum=0.157;QD=11.14;ReadPosRankSum=1.317;VQSLOD=4.7699;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,37:86:99:988,0,1265 5 167891830 167891830 T C exonic WWC1 synonymous SNV WWC1:NM_001161661:exon21:c.T3031C:p.L1011L,WWC1:NM_001161662:exon21:c.T3031C:p.L1011L,WWC1:NM_015238:exon21:c.T3013C:p.L1005L 0.34 0.4 0.33 0.041 0.45 0.46 0.3693 0.3969 0.2574 0.0432 0.3323 0.4079 0.3877 0.4589 0.41 0.39 0.42 0.41 0.43 rs3203960 COSM3761093 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3643 0.3946 0.2618 0.4653 0.0451 0.3294 0.4104 0.3899 0.4611 0.3670 0.4017 0.2854 0.43 0.0415 0.3298 0.3924 0.3906 het 1597.52 140 5 167891830 . T C 1597.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.917;DP=140;Dels=0.00;FS=7.699;HRun=0;HaplotypeScore=2.7708;MQ=59.09;MQ0=0;MQRankSum=0.517;QD=11.41;ReadPosRankSum=0.336;VQSLOD=5.0991;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,61:140:99:1628,0,2135 5 167943827 167943827 G A exonic RARS synonymous SNV RARS:NM_002887:exon13:c.G1497A:p.A499A 0.78 0.98 0.76 0.94 0.59 0.57 0.6771 0.9390 0.7873 0.9351 0.6049 0.6156 0.6509 0.5786 0.73 0.93 0.62 0.75 0.58 rs653568 . . Benign not_specified RCV000424065.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6781 0.9423 0.7879 0.6349 0.9363 0.6018 0.6168 0.6646 0.5765 0.7287 0.9365 0.7686 0.6490 0.9395 0.5999 0.6207 0.6311 het 3903.76 250 5 167943827 . G A 3903.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.418;DP=250;DS;Dels=0.00;FS=8.028;HRun=0;HaplotypeScore=2.7601;MQ=59.10;MQ0=0;MQRankSum=-1.205;QD=15.62;ReadPosRankSum=-1.113;VQSLOD=4.1893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,123:250:99:3268,0,3329 5 168098463 168098463 A G exonic SLIT3 synonymous SNV SLIT3:NM_001271946:exon34:c.T3888C:p.S1296S,SLIT3:NM_003062:exon34:c.T3867C:p.S1289S 0.99 1. 0.97 1. 0.97 0.99 0.9737 0.9952 0.9845 1 0.9732 0.9608 0.9821 0.9909 0.97 0.99 0.96 0.92 0.77 rs292486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9745 0.9948 0.9841 0.9823 0.9999 0.9736 0.9600 0.9732 0.9900 0.9770 0.9932 0.9857 0.9702 0.9981 0.9768 0.9650 0.9765 het 297.04 23 5 168098463 . A G 297.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.708;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.031;QD=12.91;ReadPosRankSum=-0.277;VQSLOD=11.6627;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,11:23:99:327,0,367 5 168212951 168212951 A G exonic SLIT3 nonsynonymous SNV SLIT3:NM_001271946:exon12:c.T1112C:p.V371A,SLIT3:NM_003062:exon12:c.T1112C:p.V371A 0.93 0.99 0.94 0.96 0.88 0.86 0.9062 0.9816 0.9311 0.9621 0.8943 0.8978 0.8921 0.8513 0.93 0.98 0.9 0.91 0.89 rs891921 . . . . . . . . . . . . . 0.076 0.342 T 0.0 0.026 B 0.0 0.040 B 0.005 0.328 N 1.000 0.186 P -0.345 0.033 N 1.92 0.231 T 1.15 0.012 N 0.011 0.137 -0.948 0.413 T 0.000 0.000 T . . . 3.129 0.436 22.6 0.993 0.569 0.050 0.106 N c -0.285 -0.006 1.000 0.747 0.554 0.246 0 6.04 0.980 6.566 0.737 0.137 0.221 1.000 0.715 0.971 0.463 14.585 0.678 Leucine-rich repeat domain\x2c L domain-like . . 0.9059 0.9822 0.9335 0.9299 0.9596 0.8925 0.8943 0.8962 0.8535 0.9258 0.9811 0.9270 0.9503 0.9647 0.8992 0.8963 0.9051 hom 6306.65 200 5 168212951 . A G 6306.65 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.88;MQ0=0;QD=31.53;VQSLOD=9.5687;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6306,479,0 5 169021610 169021610 C T exonic SPDL1 synonymous SNV SPDL1:NM_001329639:exon7:c.C816T:p.L272L,SPDL1:NM_001329640:exon7:c.C816T:p.L272L,SPDL1:NM_001329641:exon7:c.C816T:p.L272L,SPDL1:NM_017785:exon7:c.C816T:p.L272L,SPDL1:NM_001329642:exon8:c.C603T:p.L201L,SPDL1:NM_001329643:exon8:c.C603T:p.L201L 0.64 0.53 0.59 0.73 0.67 0.7 0.6572 0.5349 0.5295 0.7333 0.6599 0.6837 0.6788 0.6746 0.64 0.55 0.69 0.58 0.78 rs4493692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6574 0.5329 0.5356 0.6864 0.7440 0.6736 0.6869 0.6650 0.6744 0.6417 0.5338 0.5348 0.6887 0.7503 0.6638 0.6914 0.6602 het 1497.78 103 5 169021610 . C T 1497.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.203;DP=103;Dels=0.00;FS=3.646;HRun=1;HaplotypeScore=2.5494;MQ=57.98;MQ0=0;MQRankSum=0.363;QD=14.54;ReadPosRankSum=0.077;VQSLOD=5.1514;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,59:103:99:1528,0,1132 5 169028481 169028481 T C exonic SPDL1 nonsynonymous SNV SPDL1:NM_001329639:exon11:c.T1522C:p.Y508H,SPDL1:NM_001329640:exon11:c.T1522C:p.Y508H,SPDL1:NM_001329641:exon11:c.T1522C:p.Y508H,SPDL1:NM_017785:exon11:c.T1522C:p.Y508H,SPDL1:NM_001329642:exon12:c.T1309C:p.Y437H,SPDL1:NM_001329643:exon12:c.T1309C:p.Y437H 0.66 0.59 0.6 0.73 0.67 0.7 0.6614 0.5791 0.5319 0.7351 0.6601 0.6838 0.6806 0.6748 0.66 0.59 0.69 0.61 0.75 rs3797713 . . . . . . . . . . . . . 0.592 0.058 T 0.0 0.026 B 0.0 0.013 B 0.322 0.041 N 1 0.090 P 0 0.065 N 1.58 0.291 T 0.96 0.015 N 0.014 0.002 -0.985 0.338 T 0.000 0.000 T . . . -1.935 0.009 0.001 0.209 0.008 0.055 0.112 N c -2.116 -2.133 1.000 0.747 0.707 0.730 0 -7.3 0.013 -0.375 0.075 -1.385 0.012 0.000 0.063 0.000 0.016 1.078 0.015 . ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12 Adipose_Subcutaneous|Colon_Transverse|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.6610 0.5798 0.5383 0.6882 0.7456 0.6736 0.6871 0.6671 0.6748 0.6533 0.5741 0.5382 0.6887 0.7491 0.6634 0.6916 0.6622 het 907.95 71 5 169028481 . T C 907.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.445;DP=71;Dels=0.00;FS=2.002;HRun=0;HaplotypeScore=4.8579;MQ=59.35;MQ0=0;MQRankSum=-0.339;QD=12.79;ReadPosRankSum=0.178;VQSLOD=5.6417;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:36,35:71:99:938,0,866 5 169031150 169031150 T C exonic SPDL1 nonsynonymous SNV SPDL1:NM_001329641:exon12:c.T1757C:p.L586S,SPDL1:NM_017785:exon12:c.T1757C:p.L586S,SPDL1:NM_001329643:exon13:c.T1544C:p.L515S 0.66 0.59 0.6 0.73 0.67 0.7 0.6613 0.5800 0.5317 0.7340 0.6599 0.6836 0.6799 0.6744 0.66 0.59 0.69 0.61 0.79 rs3777084 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.122 0.190 N 1.000 0.090 P -1.355 0.007 N 1.72 0.266 T 0.6 0.025 N 0.017 0.003 -0.970 0.371 T 0.000 0.000 T . . . -0.026 0.091 2.345 0.193 0.006 0.023 0.065 N c -1.093 -0.805 0.998 0.367 0.732 0.924 0 4.05 0.462 1.255 0.323 -0.897 0.027 0.999 0.424 0.573 0.284 5.756 0.173 . ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12|ENSG00000040275.12 Adipose_Subcutaneous|Colon_Transverse|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.6610 0.5795 0.5377 0.6884 0.7455 0.6734 0.6870 0.6675 0.6746 0.6535 0.5750 0.5382 0.6887 0.7494 0.6637 0.6914 0.6626 het 981.10 76 5 169031150 . T C 981.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.036;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4957;MQ=59.18;MQ0=0;MQRankSum=-0.961;QD=12.91;ReadPosRankSum=-1.127;VQSLOD=5.8312;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,38:76:99:1011,0,1034 5 169129422 169129422 A G exonic DOCK2 synonymous SNV DOCK2:NM_004946:exon14:c.A1374G:p.K458K 0.39 0.2 0.33 0.68 0.45 0.31 0.4067 0.2238 0.2481 0.7128 0.3731 0.4506 0.3987 0.3101 0.38 0.24 0.45 0.37 0.48 rs2306559 COSM4407089 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4055 0.2240 0.2587 0.4305 0.7133 0.3800 0.4540 0.4215 0.3159 0.3894 0.2327 0.3017 0.4367 0.7142 0.3755 0.4528 0.3916 hom 4466.71 149 5 169129422 . A G 4466.71 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5165;MQ=59.25;MQ0=0;QD=29.98;VQSLOD=9.0470;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4466,352,0 5 169504743 169504743 T C exonic DOCK2 synonymous SNV DOCK2:NM_004946:exon48:c.T4896C:p.R1632R 0.29 0.38 0.26 0.11 0.33 0.34 0.2949 0.3731 0.1882 0.1097 0.2939 0.3166 0.3190 0.3289 0.33 0.38 0.31 0.27 0.21 rs1045168 COSM150014 1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2901 0.3789 0.2002 0.3636 0.1075 0.2892 0.3133 0.3328 0.3320 0.3132 0.3777 0.2261 0.2947 0.1035 0.2913 0.3091 0.3094 het 1822.90 167 5 169504743 . T C 1822.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.585;DP=167;Dels=0.00;FS=2.905;HRun=3;HaplotypeScore=2.1101;MQ=59.35;MQ0=0;MQRankSum=-0.587;QD=10.92;ReadPosRankSum=-0.322;VQSLOD=6.1384;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,70:167:99:1853,0,2585 5 169535522 169535522 T C exonic FOXI1 synonymous SNV FOXI1:NM_012188:exon2:c.T1044C:p.Y348Y,FOXI1:NM_144769:exon2:c.T759C:p.Y253Y 0.93 0.9 0.93 0.99 0.9 0.94 0.9089 0.9001 0.9146 0.9857 0.8636 0.8980 0.9105 0.9331 0.91 0.91 0.91 0.88 0.87 rs10063424 . . Benign|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Mixed|Pendred's_syndrome RCV000249027.1|RCV000304739.1|RCV000361597.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239440|C0271829:274600:ORPHA705:70348004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9105 0.8993 0.9160 0.9340 0.9865 0.8623 0.9007 0.8930 0.9334 0.8947 0.8935 0.9033 0.9172 0.9895 0.8663 0.8923 0.8737 het 2575.53 224 5 169535522 . T C 2575.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DP=224;Dels=0.00;FS=12.734;HRun=0;HaplotypeScore=4.3749;MQ=59.69;MQ0=0;MQRankSum=0.649;QD=11.50;ReadPosRankSum=-0.793;VQSLOD=4.1860;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,103:224:99:2606,0,3088 5 169661994 169661994 G C exonic C5orf58 nonsynonymous SNV C5orf58:NM_001102609:exon3:c.G77C:p.R26P,C5orf58:NM_001305393:exon3:c.G77C:p.R26P,C5orf58:NM_001305394:exon3:c.G77C:p.R26P,C5orf58:NM_001305395:exon3:c.G77C:p.R26P,C5orf58:NM_001305396:exon3:c.G77C:p.R26P,C5orf58:NM_001305397:exon3:c.G77C:p.R26P . . . . . . 0.5587 0.5204 0.6053 0.5952 0.6117 0.5518 0.5639 0.5392 0.5 0.48 0.5 0.62 . rs957998 . . . . . . . . . . . . . . . . 0.004 0.112 B 0.002 0.063 B . . . 1 0.090 P 0 0.065 N . . . . . . 0.139 0.162 -0.939 0.429 T 0.000 0.000 T . . . 0.492 0.141 7.366 0.542 0.050 0.177 0.198 N c -0.936 -0.836 0.383 0.200 0.428 0.059 0 3.53 0.394 1.231 0.320 -0.165 0.106 0.701 0.284 0.001 0.043 7.912 0.288 . ENSG00000249601.2|ENSG00000249601.2|ENSG00000043462.7|ENSG00000249601.2|ENSG00000234511.4|ENSG00000249601.2 Adipose_Subcutaneous|Lung|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Whole_Blood 0.5037 0.4583 0.5269 0.5274 0.5367 0.5570 0.4865 0.5194 0.4906 0.5036 0.4832 0.5430 0.5733 0.5582 0.5661 0.4923 0.4908 het 141.13 12 5 169661994 . G C 141.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.635;DP=12;Dels=0.00;FS=2.632;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.380;QD=11.76;ReadPosRankSum=1.000;VQSLOD=6.3449;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,7:12:99:171,0,106 5 169685163 169685163 C T exonic LCP2 synonymous SNV LCP2:NM_005565:exon16:c.G978A:p.Q326Q 0.56 0.68 0.59 0.57 0.47 0.44 0.5080 0.6386 0.5049 0.5958 0.5595 0.4834 0.5223 0.4646 0.54 0.64 0.49 0.72 . rs315717 COSM4003450;COSM4003451 1(haematopoietic_and_lymphoid_tissue);1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5097 0.6379 0.5125 0.5072 0.5919 0.5584 0.4811 0.5247 0.4637 0.5369 0.6314 0.5036 0.5364 0.6075 0.5587 0.4738 0.4959 het 2005.67 149 5 169685163 . C T 2005.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.763;DP=149;DS;Dels=0.00;FS=8.374;HRun=1;HaplotypeScore=4.2308;MQ=59.44;MQ0=0;MQRankSum=0.841;QD=13.46;ReadPosRankSum=-0.435;VQSLOD=4.8672;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,73:149:99:2036,0,2141 5 170883734 170883734 G A exonic FGF18 synonymous SNV FGF18:NM_003862:exon5:c.G549A:p.P183P 0.056 0.003 0.12 0.12 0.029 0.04 0.0567 0.0102 0.1781 0.1139 0.0256 0.0422 0.0664 0.0397 0.035 0.011 0.047 0.043 0.025 rs34347344 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0613 0.0096 0.1700 0.0251 0.1130 0.0231 0.0448 0.0522 0.0400 0.0349 0.0121 0.1241 0.0232 0.1088 0.0207 0.0388 0.0346 het 1157.94 86 5 170883734 . G A 1157.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.337;DP=86;Dels=0.00;FS=5.737;HRun=0;HaplotypeScore=6.8566;MQ=59.57;MQ0=0;MQRankSum=-1.153;QD=13.46;ReadPosRankSum=0.471;VQSLOD=3.9798;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,44:86:99:1188,0,1095 5 171523436 171523436 G A exonic STK10 synonymous SNV STK10:NM_005990:exon8:c.C999T:p.A333A 0.15 0.063 0.23 0.19 0.19 0.14 0.1786 0.0709 0.2660 0.1898 0.2072 0.1861 0.1744 0.1380 0.15 0.082 0.18 0.15 0.11 rs4868141 COSM3761108 1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1835 0.0724 0.2549 0.1544 0.1827 0.2077 0.1884 0.1708 0.1386 0.1591 0.0755 0.2351 0.1567 0.1731 0.2135 0.1883 0.1776 het 1772.39 113 5 171523436 . G A 1772.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.967;DP=113;Dels=0.00;FS=8.428;HRun=0;HaplotypeScore=7.8321;MQ=59.63;MQ0=0;MQRankSum=0.276;QD=15.68;ReadPosRankSum=0.649;VQSLOD=3.9179;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,61:113:99:1802,0,1221 5 171533629 171533629 A G exonic STK10 synonymous SNV STK10:NM_005990:exon6:c.T783C:p.S261S 0.76 0.68 0.77 0.85 0.74 0.78 0.7403 0.6898 0.7738 0.8188 0.7298 0.7166 0.7608 0.8053 0.7 0.69 0.71 0.77 0.68 rs2306963 COSM4159732 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7411 0.6870 0.7709 0.7296 0.8252 0.7191 0.7155 0.7311 0.8009 0.7048 0.6900 0.7596 0.7450 0.8294 0.7187 0.6928 0.7045 hom 1223.56 35 5 171533629 . A G 1223.56 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.96;VQSLOD=14.2454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:96.31:1257,96,0 5 171533656 171533656 C T exonic STK10 synonymous SNV STK10:NM_005990:exon6:c.G756A:p.S252S 0.68 0.42 0.75 0.85 0.74 0.78 0.7123 0.4641 0.7627 0.8178 0.7252 0.7078 0.7373 0.7901 0.62 0.47 0.7 0.66 0.67 rs2306962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7185 0.4589 0.7565 0.7178 0.8245 0.7167 0.7078 0.7174 0.7869 0.6366 0.4672 0.7362 0.7252 0.8294 0.7172 0.6850 0.6889 hom 2002.24 60 5 171533656 . C T 2002.24 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9705;MQ=59.23;MQ0=0;QD=33.37;VQSLOD=9.6299;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:60:99:2035,160,0 5 171849471 171849471 G A exonic SH3PXD2B synonymous SNV SH3PXD2B:NM_001017995:exon2:c.C105T:p.S35S,SH3PXD2B:NM_001308175:exon2:c.C105T:p.S35S 0.37 0.22 0.42 0.66 0.28 0.36 0.3613 0.2495 0.5425 0.6680 0.3114 0.2968 0.3492 0.4142 0.26 0.24 0.27 0.37 0.3 rs17074773 COSM3761109 1(thyroid);1(large_intestine) Benign|Benign not_specified|Frank_Ter_Haar_syndrome RCV000246033.1|RCV000351031.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1855305:249420:ORPHA137834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3499 0.2337 0.4970 0.2781 0.6673 0.2815 0.2844 0.3172 0.3833 0.3109 0.2482 0.4606 0.3543 0.6911 0.2828 0.3026 0.3279 het 292.16 32 5 171849471 . G A 292.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.500;DP=32;Dels=0.00;FS=1.419;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.817;QD=9.13;ReadPosRankSum=-1.235;VQSLOD=5.7578;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,14:32:99:322,0,468 5 172196711 172196711 G T exonic DUSP1 synonymous SNV DUSP1:NM_004417:exon3:c.C600A:p.I200I 0.85 0.52 0.95 1. 0.94 0.99 0.9302 0.5889 0.9658 0.9999 0.9475 0.9538 0.9383 0.9812 0.83 0.59 0.96 0.81 0.94 rs2431663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9386 0.5875 0.9620 0.9760 0.9999 0.9508 0.9522 0.9499 0.9812 0.8566 0.5923 0.9475 0.9768 0.9994 0.9559 0.9585 0.9450 hom 4738.15 152 5 172196711 . G T 4738.15 Mask AC=2;AF=1.00;AN=2;DP=152;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3090;MQ=59.36;MQ0=0;QD=31.17;VQSLOD=9.4880;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:4738,382,0 5 172395581 172395581 C T exonic RPL26L1 synonymous SNV RPL26L1:NM_001317980:exon3:c.C288T:p.H96H,RPL26L1:NM_001317981:exon3:c.C288T:p.H96H,RPL26L1:NM_001317982:exon3:c.C288T:p.H96H,RPL26L1:NM_016093:exon3:c.C288T:p.H96H 0.03 0.023 0.017 0.0079 0.023 0.077 0.0307 0.0212 0.0128 0.0074 0.0227 0.0287 0.0374 0.0722 0.025 0.02 0.026 0.022 0.0082 rs17075427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0296 0.0189 0.0140 0.0479 0.0067 0.0218 0.0275 0.0306 0.0715 0.0209 0.0190 0.0107 0.0596 0.0068 0.0221 0.0220 0.0356 het 3977.82 245 5 172395581 . C T 3977.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.995;DP=245;DS;Dels=0.00;FS=2.202;HRun=0;HaplotypeScore=6.4352;MQ=58.82;MQ0=1;MQRankSum=1.469;QD=16.24;ReadPosRankSum=-0.771;VQSLOD=4.4508;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,123:245:99:3351,0,3135 5 172550204 172550204 C T exonic CREBRF synonymous SNV CREBRF:NM_153607:exon8:c.C1803T:p.L601L 0.15 0.35 0.075 0.014 0.074 0.17 0.0933 0.2991 0.0586 0.0083 0.0165 0.0735 0.1169 0.1432 0.14 0.28 0.072 0.22 0.09 rs1129146 COSM4159735 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0856 0.3027 0.0589 0.1656 0.0081 0.0157 0.0672 0.0983 0.1403 0.1156 0.2884 0.0817 0.1523 0.0062 0.0186 0.0536 0.0714 het 1577.34 121 5 172550204 . C T 1577.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.960;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8279;MQ=58.23;MQ0=0;MQRankSum=-0.044;QD=13.04;ReadPosRankSum=0.812;VQSLOD=5.3452;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,59:121:99:1607,0,1484 5 172662024 172662024 T C exonic NKX2-5 synonymous SNV NKX2-5:NM_001166175:exon1:c.A63G:p.E21E,NKX2-5:NM_001166176:exon1:c.A63G:p.E21E,NKX2-5:NM_004387:exon1:c.A63G:p.E21E 0.54 0.73 0.51 0.63 0.28 0.46 0.4052 0.6732 0.5651 0.6318 0.4350 0.3027 0.4068 0.4076 0.4 0.64 0.28 0.61 0.42 rs2277923 COSM3761113 2(breast);1(urinary_tract);1(thyroid);1(large_intestine) Benign not_specified RCV000037967.10 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4071 0.6714 0.5486 0.3066 0.6342 0.4317 0.2975 0.3702 0.4027 0.4347 0.6523 0.5276 0.2483 0.6380 0.4174 0.2926 0.3704 het 343.47 36 5 172662024 . T C 343.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.833;DP=36;Dels=0.00;FS=1.387;HRun=0;HaplotypeScore=3.9831;MQ=59.31;MQ0=0;MQRankSum=0.438;QD=9.54;ReadPosRankSum=-0.406;VQSLOD=5.7605;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,14:36:99:373,0,575 5 172750235 172750235 A G exonic STC2 synonymous SNV STC2:NM_003714:exon3:c.T493C:p.L165L 0.001 . . . 0.005 . 0.0046 0.0008 0.0006 0 0.0185 0.0062 0.0067 0.0006 0.0036 0.0009 0.005 . 0.0082 rs147265120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0051 0.0010 0.0006 0.0036 0 0.0200 0.0061 0.0053 0.0007 0.0046 0.0006 0.0012 0 0 0.0218 0.0037 0.0051 het 870.79 89 5 172750235 . A G 870.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.633;DP=89;Dels=0.00;FS=0.834;HRun=1;HaplotypeScore=2.5105;MQ=60.00;MQ0=0;MQRankSum=-0.741;QD=9.78;ReadPosRankSum=0.013;VQSLOD=4.2936;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,34:89:99:901,0,1439 5 174156168 174156168 T C exonic MSX2 nonsynonymous SNV MSX2:NM_002449:exon2:c.T386C:p.M129T 0.77 0.36 0.85 0.98 0.88 0.92 0.8757 0.4548 0.9309 0.9832 0.9127 0.9034 0.9015 0.9169 0.76 0.47 0.9 0.67 0.92 rs4242182 COSM5654052 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Craniosynostosis|Enlarged_parietal_foramina RCV000246108.1|RCV000270658.1|RCV000325806.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|HP:0001363:C1849943|CN236382 . . . . . . 0.108 0.294 T 0.0 0.026 B 0.001 0.040 B 0.005 0.332 N 0.051 0.810 P 1.04 0.263 L -3.71 0.954 D -1.46 0.358 N 0.075 0.067 -0.907 0.473 T 0.000 0.000 T . . . 1.019 0.192 10.77 0.941 0.237 0.986 0.841 D c -0.117 0.071 1.000 0.747 0.497 0.185 0 5.28 0.740 4.520 0.600 1.061 0.807 1.000 0.715 0.988 0.529 15.368 0.741 Homeodomain-like . . 0.8854 0.4422 0.9275 0.9066 0.9831 0.9147 0.9014 0.8902 0.9182 0.7825 0.4630 0.9165 0.8907 0.9877 0.9072 0.9006 0.8824 hom 3485.33 105 5 174156168 . T C 3485.33 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8024;MQ=58.94;MQ0=0;QD=33.19;VQSLOD=8.8241;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:105:99:3485,277,0 5 174868840 174868840 T C exonic DRD1 synonymous SNV DRD1:NM_000794:exon2:c.A1263G:p.S421S 0.99 1. 0.98 1. 0.98 1. 0.9877 0.9955 0.9922 1 0.9926 0.9815 0.9934 0.9959 0.99 1. 0.98 1. 1. rs155417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9878 0.9965 0.9924 0.9918 0.9999 0.9926 0.9799 0.9881 0.9958 0.9893 0.9972 0.9916 1 1 0.9914 0.9830 0.9847 hom 4124.36 132 5 174868840 . T C 4124.36 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=59.65;MQ0=0;QD=31.25;VQSLOD=8.5832;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4123,355,0 5 175956526 175956526 C T exonic RNF44 synonymous SNV RNF44:NM_014901:exon9:c.G1134A:p.T378T 0.0016 0.0061 . . . . 0.0010 0.0117 8.646e-05 0.0001 0 1.506e-05 0 0 0.0034 0.01 . . . rs144106139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0.0126 0.0004 0 5.798e-05 0 2.689e-05 0.0009 6.498e-05 0.0039 0.0140 0 0 0 0 0 0 het 897.57 97 5 175956526 . C T 897.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.275;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6255;MQ=57.30;MQ0=1;MQRankSum=2.070;QD=9.25;ReadPosRankSum=1.275;VQSLOD=2.3884;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,41:97:99:928,0,1384 5 175995711 175995711 C A exonic CDHR2 nonsynonymous SNV CDHR2:NM_001171976:exon4:c.C157A:p.Q53K,CDHR2:NM_017675:exon4:c.C157A:p.Q53K 0.019 0.062 0.016 . . . 0.0050 0.0536 0.0032 0 0 0.0002 0 0.0001 0.019 0.057 0.0001 0.033 . rs114185037 . . . . . . . . . . . . . 0.816 0.030 T 0.002 0.090 B 0.004 0.093 B . . . 1 0.090 N 1.1 0.281 L 0.25 0.595 T -0.3 0.119 N 0.049 0.121 -1.048 0.150 T 0.010 0.038 T . . . -2.023 0.008 0.001 0.254 0.012 0.013 0.046 N c -1.594 -1.711 1.000 0.467 0.497 0.185 0 -9.11 0.006 -2.711 0.009 -1.077 0.019 0.000 0.063 0.000 0.016 6.009 0.187 Cadherin|Cadherin-like . . 0.0040 0.0546 0.0029 0 0 0 0.0003 0.0027 0.0002 0.0154 0.0534 0.0048 0 0 0 0.0002 0.0031 het 1948.08 147 5 175995711 . C A 1948.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.685;DP=147;Dels=0.00;FS=1.390;HRun=1;HaplotypeScore=1.9931;MQ=59.59;MQ0=0;MQRankSum=-0.575;QD=13.25;ReadPosRankSum=-0.858;VQSLOD=5.8076;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,74:147:99:1978,0,2158 5 175998246 175998246 T C exonic CDHR2 synonymous SNV CDHR2:NM_001171976:exon6:c.T348C:p.D116D,CDHR2:NM_017675:exon6:c.T348C:p.D116D 0.32 0.3 0.23 0.48 0.22 0.35 0.2556 0.3089 0.2085 0.4914 0.2599 0.2044 0.2528 0.3344 0.23 0.29 0.2 0.39 0.2 rs17078320 COSM3761122 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2476 0.2990 0.2080 0.1693 0.4899 0.2615 0.1993 0.2261 0.3243 0.2483 0.2895 0.2315 0.1589 0.4722 0.2545 0.2032 0.2190 het 974.12 76 5 175998246 . T C 974.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.505;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.14;MQ0=0;MQRankSum=1.621;QD=12.82;ReadPosRankSum=-0.270;VQSLOD=6.2563;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,37:76:99:1004,0,979 5 176002144 176002144 A C exonic CDHR2 synonymous SNV CDHR2:NM_001171976:exon8:c.A555C:p.I185I,CDHR2:NM_017675:exon8:c.A555C:p.I185I 0.84 0.75 0.9 0.84 0.93 0.84 0.9033 0.7765 0.9137 0.8539 0.9323 0.9419 0.8907 0.8351 0.89 0.78 0.94 0.8 0.87 rs4242200 COSM4159745 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9054 0.7678 0.9124 0.8909 0.8476 0.9343 0.9455 0.9182 0.8347 0.8914 0.7755 0.9137 0.8974 0.8461 0.9347 0.9502 0.9226 het 1900.80 180 5 176002144 . A C 1900.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.550;DP=180;Dels=0.00;FS=1.889;HRun=0;HaplotypeScore=5.1891;MQ=59.82;MQ0=0;MQRankSum=0.979;QD=10.56;ReadPosRankSum=0.246;VQSLOD=5.0642;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,79:180:99:1931,0,2806 5 176004476 176004476 T C exonic CDHR2 nonsynonymous SNV CDHR2:NM_001171976:exon13:c.T1271C:p.V424A,CDHR2:NM_017675:exon13:c.T1271C:p.V424A 0.93 0.76 0.97 1. 1. 0.99 0.9803 0.8006 0.9891 1 1 0.9995 0.9935 0.9907 0.93 0.8 1. 0.94 0.8 rs11134982 . . . . . . . . . . . . . 0.982 0.020 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.06 0.082 N 0.48 0.560 T -1.05 0.275 N 0.026 0.051 -0.982 0.346 T 0.000 0.000 T . . . -1.620 0.014 0.002 0.246 0.011 0.002 0.011 N c -1.405 -1.367 0.970 0.291 0.403 0.052 0 1.71 0.233 -1.622 0.021 -0.906 0.026 0.000 0.063 0.000 0.016 5.079 0.139 Cadherin|Cadherin-like . . 0.9839 0.7895 0.9888 1 1 1 0.9995 0.9906 0.9903 0.9419 0.7966 0.9869 1 1 1 0.9993 0.9939 hom 420.98 14 5 176004476 . T C 420.98 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.07;VQSLOD=13.6791;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:454,36,0 5 176004510 176004510 A G exonic CDHR2 synonymous SNV CDHR2:NM_001171976:exon13:c.A1305G:p.V435V,CDHR2:NM_017675:exon13:c.A1305G:p.V435V 0.0034 0.011 0.0029 . . . 0.0013 0.0144 0.0003 0 0 6.543e-05 0 6.422e-05 0.0052 0.015 . . . rs113113708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0144 0.0005 0 0 0 5.496e-05 0.0011 6.57e-05 0.0040 0.0140 0 0 0 0 0 0.0010 het 222.73 20 5 176004510 . A G 222.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.172;DP=20;Dels=0.00;FS=7.474;HRun=0;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;MQRankSum=1.247;QD=11.14;ReadPosRankSum=-1.323;VQSLOD=3.6153;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:253,0,273 5 176005477 176005477 C T exonic CDHR2 synonymous SNV CDHR2:NM_001171976:exon16:c.C1686T:p.D562D,CDHR2:NM_017675:exon16:c.C1686T:p.D562D 0.65 0.59 0.77 0.55 0.75 0.66 0.7243 0.6100 0.7475 0.5357 0.7258 0.7740 0.7444 0.6762 0.72 0.62 0.78 0.65 0.71 rs2358747 COSM3761123 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7265 0.6050 0.7431 0.8144 0.5361 0.7202 0.7729 0.7538 0.6784 0.7094 0.6214 0.7363 0.8245 0.5623 0.7259 0.7662 0.7454 het 729.74 57 5 176005477 . C T 729.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.370;DP=57;Dels=0.00;FS=2.413;HRun=0;HaplotypeScore=1.6644;MQ=60.00;MQ0=0;MQRankSum=1.947;QD=12.80;ReadPosRankSum=-1.386;VQSLOD=5.6257;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,26:57:99:760,0,811 5 176017639 176017639 C A exonic CDHR2 nonsynonymous SNV CDHR2:NM_001171976:exon28:c.C3490A:p.L1164M,CDHR2:NM_017675:exon28:c.C3490A:p.L1164M 0.24 0.018 0.22 0.44 0.24 0.35 0.2459 0.0436 0.2352 0.4574 0.2837 0.2266 0.2428 0.3332 0.16 0.05 0.22 0.14 0.26 rs17078347 COSM3761124 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.04 0.421 D 0.966 0.542 D 0.564 0.479 P . . . 1 0.090 P 2.505 0.732 M 0.29 0.589 T -0.52 0.162 N 0.129 0.156 -0.916 0.461 T 0.000 0.000 T . . . 1.404 0.232 12.81 0.989 0.474 0.036 0.087 N c -0.484 -0.637 0.999 0.376 0.554 0.283 0 -1.36 0.086 -0.967 0.039 -0.452 0.056 0.004 0.165 0.630 0.294 12.261 0.538 . . . 0.2492 0.0416 0.2365 0.1787 0.4545 0.2843 0.2274 0.2337 0.3304 0.1962 0.0443 0.2321 0.1887 0.4363 0.2748 0.2354 0.2469 het 2968.84 229 5 176017639 . C A 2968.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.541;DP=229;Dels=0.00;FS=3.018;HRun=0;HaplotypeScore=7.5758;MQ=59.70;MQ0=0;MQRankSum=0.167;QD=12.96;ReadPosRankSum=-0.699;VQSLOD=4.6641;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,117:229:99:2999,0,3225 5 176024880 176024880 C T exonic GPRIN1 synonymous SNV GPRIN1:NM_052899:exon2:c.G1956A:p.G652G 0.83 0.74 0.9 0.79 0.93 0.83 0.8991 0.7861 0.9116 0.8074 0.9326 0.9398 0.8874 0.8319 0.89 0.79 0.94 0.78 0.88 rs4868663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9020 0.7828 0.9118 0.8904 0.8035 0.9348 0.9437 0.9177 0.8327 0.8925 0.7885 0.9057 0.8974 0.8078 0.9357 0.9488 0.9294 hom 2451.16 74 5 176024880 . C T 2451.16 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5115;MQ=59.69;MQ0=0;QD=33.12;VQSLOD=9.2970;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2484,199,0 5 176025938 176025938 T C exonic GPRIN1 nonsynonymous SNV GPRIN1:NM_052899:exon2:c.A898G:p.M300V 1. 0.99 1. 1. 1. 1. 0.9993 0.9918 0.9999 0.9999 1 1.0000 1 1 1. 0.99 1. 1. 1. rs6556276 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.010 N 1 0.090 P -0.44 0.028 N 3.15 0.078 T 0.32 0.040 N 0.013 0.002 -1.009 0.271 T 0.000 0.000 T . . . -3.755 0.000 0.001 0.278 0.014 0.002 0.011 N c -2.036 -2.023 0.956 0.282 0.707 0.730 0 -3.95 0.038 -2.121 0.014 -2.781 0.002 0.000 0.063 0.000 0.016 7.652 0.274 . . . 0.9994 0.9919 0.9996 1 0.9999 1 1.0000 0.9996 1 0.9976 0.9920 0.9988 1 1 1 0.9999 1 hom 6428.40 207 5 176025938 . T C 6428.40 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2766;MQ=59.44;MQ0=0;QD=31.06;VQSLOD=8.6764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6427,514,0 5 176314459 176314459 G A exonic HK3 synonymous SNV HK3:NM_002115:exon11:c.C1593T:p.D531D 0.33 0.18 0.45 0.39 0.33 0.4 0.3584 0.2203 0.5534 0.3925 0.3548 0.3305 0.3552 0.4026 0.3 0.22 0.34 0.35 0.33 rs2278492 COSM4408701;COSM4408700 1(breast);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3701 0.2141 0.5506 0.3579 0.3981 0.3468 0.3298 0.3658 0.4006 0.3096 0.2200 0.5358 0.3767 0.4156 0.3470 0.3248 0.3531 het 805.31 54 5 176314459 . G A 805.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.515;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;MQRankSum=-0.183;QD=14.91;ReadPosRankSum=0.270;VQSLOD=7.0585;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,30:54:99:835,0,617 5 176314639 176314639 G A exonic HK3 synonymous SNV HK3:NM_002115:exon11:c.C1413T:p.A471A 0.3 0.076 0.43 0.39 0.33 0.4 0.3491 0.1226 0.5504 0.3937 0.3527 0.3294 0.3476 0.4022 0.27 0.13 0.34 0.29 0.28 rs6875296 COSM449368;COSM1486620 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3620 0.1158 0.5463 0.3389 0.3973 0.3463 0.3291 0.3600 0.4003 0.2816 0.1222 0.5310 0.3510 0.4181 0.3464 0.3246 0.3501 het 932.41 64 5 176314639 . G A 932.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.915;DP=64;Dels=0.00;FS=0.956;HRun=0;HaplotypeScore=1.7873;MQ=59.28;MQ0=0;MQRankSum=0.580;QD=14.57;ReadPosRankSum=-0.013;VQSLOD=6.8002;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,35:64:99:962,0,763 5 176517461 176517461 T G exonic FGFR4 synonymous SNV FGFR4:NM_022963:exon2:c.T162G:p.R54R,FGFR4:NM_001291980:exon3:c.T162G:p.R54R,FGFR4:NM_002011:exon3:c.T162G:p.R54R,FGFR4:NM_213647:exon3:c.T162G:p.R54R 0.78 0.58 0.81 0.98 0.69 0.9 0.7647 0.6115 0.8542 0.9726 0.7553 0.7150 0.7426 0.8947 0.68 0.61 0.72 0.77 0.73 rs446382 COSM3761131;COSM3761132 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7713 0.6025 0.8444 0.7151 0.9718 0.7546 0.7162 0.7393 0.8922 0.7118 0.5979 0.8103 0.7119 0.9729 0.7490 0.7323 0.7572 het 1037.59 94 5 176517461 . T G 1037.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.564;DP=94;Dels=0.00;FS=0.790;HRun=1;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;MQRankSum=-0.114;QD=11.04;ReadPosRankSum=-2.162;VQSLOD=5.2018;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,42:94:99:1068,0,1378 5 176517797 176517797 C T exonic FGFR4 nonsynonymous SNV FGFR4:NM_022963:exon3:c.C407T:p.P136L,FGFR4:NM_001291980:exon4:c.C407T:p.P136L,FGFR4:NM_002011:exon4:c.C407T:p.P136L,FGFR4:NM_213647:exon4:c.C407T:p.P136L 0.81 0.63 0.83 1. 0.74 0.9 0.7950 0.6539 0.8729 0.9995 0.8171 0.7522 0.7808 0.8869 0.72 0.66 0.75 0.85 0.81 rs376618 . . . . . . . . . . . . . 0.332 0.142 T 0.0 0.067 B 0.001 0.063 B 0.127 0.028 U 1 0.090 P 0 0.065 N -1.26 0.792 T 0.2 0.125 N 0.1 0.103 -0.960 0.393 T 0.000 0.000 T . . . 0.399 0.132 6.606 0.323 0.019 0.349 0.249 N c -0.652 -0.687 1.000 0.473 0.672 0.522 0 2.85 0.322 1.521 0.353 0.729 0.305 0.002 0.151 0.010 0.111 9.649 0.389 . ENSG00000169220.13|ENSG00000160867.10|ENSG00000160867.10|ENSG00000160867.10|ENSG00000160867.10|ENSG00000160867.10 Brain_Cerebellum|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8008 0.6499 0.8641 0.7551 0.9994 0.8134 0.7509 0.7792 0.8850 0.7468 0.6533 0.8337 0.7550 1 0.8038 0.7525 0.7873 het 2238.85 147 5 176517797 . C T 2238.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.309;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5940;MQ=59.59;MQ0=0;MQRankSum=1.369;QD=15.23;ReadPosRankSum=-0.056;VQSLOD=6.2594;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,85:147:99:2269,0,1576 5 176518784 176518784 C T exonic FGFR4 synonymous SNV FGFR4:NM_022963:exon5:c.C702T:p.R234R,FGFR4:NM_001291980:exon6:c.C702T:p.R234R,FGFR4:NM_002011:exon6:c.C702T:p.R234R,FGFR4:NM_213647:exon6:c.C702T:p.R234R 0.81 0.63 0.83 1. 0.74 0.9 0.7949 0.6538 0.8729 0.9995 0.8172 0.7522 0.7808 0.8861 0.72 0.66 0.75 0.84 0.8 rs452885 COSM4159758;COSM4159759 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8007 0.6499 0.8640 0.7551 0.9994 0.8134 0.7509 0.7788 0.8850 0.7460 0.6523 0.8329 0.7550 1 0.8033 0.7520 0.7883 het 1389.59 116 5 176518784 . C T 1389.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.439;DP=116;Dels=0.00;FS=2.390;HRun=1;HaplotypeScore=5.4123;MQ=59.32;MQ0=0;MQRankSum=0.564;QD=11.98;ReadPosRankSum=0.337;VQSLOD=4.6474;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,55:116:99:1420,0,1615 5 176636882 176636882 C T exonic NSD1 synonymous SNV NSD1:NM_022455:exon5:c.C1482T:p.C494C,NSD1:NM_172349:exon6:c.C675T:p.C225C 0.47 0.77 0.33 0.53 0.2 0.37 0.2999 0.6913 0.3144 0.5314 0.2472 0.2016 0.2732 0.3425 0.35 0.67 0.19 0.51 0.16 rs1363405 COSM4419702;COSM4419701 1(haematopoietic_and_lymphoid_tissue);7(soft_tissue) Benign|Benign|Benign not_specified|Sotos_Syndrome|Weaver_syndrome RCV000082100.6|RCV000319604.1|RCV000371717.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239475|C0265210:277590:63119004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2914 0.6982 0.3006 0.2055 0.5370 0.2476 0.1981 0.2707 0.3416 0.3742 0.6830 0.2866 0.2119 0.5343 0.2610 0.2176 0.2863 het 1099.36 74 5 176636882 . C T 1099.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DP=74;Dels=0.00;FS=4.504;HRun=0;HaplotypeScore=0.9789;MQ=59.50;MQ0=0;MQRankSum=-0.278;QD=14.86;ReadPosRankSum=-0.638;VQSLOD=6.2363;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,42:74:99:1129,0,775 5 176721198 176721198 T C exonic NSD1 synonymous SNV NSD1:NM_022455:exon23:c.T6829C:p.L2277L,NSD1:NM_172349:exon24:c.T6022C:p.L2008L 0.77 0.93 0.78 0.49 0.88 0.74 0.8242 0.9243 0.7491 0.4868 0.8161 0.8768 0.8455 0.7799 0.9 0.93 0.88 0.78 0.83 rs28580074 COSM150019;COSM4003461 1(stomach);1(haematopoietic_and_lymphoid_tissue);22(soft_tissue);1(liver) other|Benign|Benign not_specified|Sotos_Syndrome|Weaver_syndrome RCV000082138.7|RCV000268880.1|RCV000379229.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239475|C0265210:277590:63119004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8201 0.9234 0.7632 0.8859 0.4810 0.8151 0.8798 0.8422 0.7829 0.8480 0.9257 0.7888 0.8907 0.4776 0.8017 0.8579 0.8160 hom 6996.84 232 5 176721198 . T C 6996.84 Mask AC=2;AF=1.00;AN=2;DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3687;MQ=59.42;MQ0=0;QD=30.16;VQSLOD=7.2071;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,232:232:99:6996,527,0 5 176721272 176721272 G C exonic NSD1 synonymous SNV NSD1:NM_022455:exon23:c.G6903C:p.G2301G,NSD1:NM_172349:exon24:c.G6096C:p.G2032G 0.11 0.011 0.15 . 0.25 0.18 0.1915 0.0379 0.0915 0.0007 0.2495 0.2448 0.2272 0.2157 0.18 0.042 0.25 0.065 0.23 rs11740250 COSM4159761;COSM4159760 8(soft_tissue);1(skin);1(thyroid) Benign|Benign|Benign not_specified|Sotos_Syndrome|Weaver_syndrome RCV000082139.6|RCV000328643.1|RCV000383147.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239475|C0265210:277590:63119004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1906 0.0358 0.0960 0.3261 0.0007 0.2429 0.2392 0.2093 0.2164 0.1632 0.0410 0.1136 0.3133 0.0012 0.2387 0.2305 0.2182 het 1771.36 115 5 176721272 . G C 1771.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.222;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3372;MQ=59.31;MQ0=0;MQRankSum=0.142;QD=15.40;ReadPosRankSum=-1.989;VQSLOD=3.4650;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,64:115:99:1801,0,1350 5 176733116 176733116 A G exonic PRELID1 synonymous SNV PRELID1:NM_001271828:exon4:c.A450G:p.R150R,PRELID1:NM_013237:exon4:c.A450G:p.R150R 0.78 0.93 0.79 0.49 0.88 0.74 0.8263 0.9294 0.7490 0.4990 0.8161 0.8778 0.8425 0.7819 0.9 0.93 0.89 0.8 0.88 rs4631 COSM150020 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8219 0.9281 0.7633 0.8859 0.4925 0.8147 0.8810 0.8427 0.7842 0.8505 0.9315 0.7924 0.8907 0.4858 0.8019 0.8586 0.8190 hom 5704.98 179 5 176733116 . A G 5704.98 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9966;MQ=59.48;MQ0=0;QD=31.87;VQSLOD=9.1137;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5704,433,0 5 176734855 176734855 G C exonic MXD3 synonymous SNV MXD3:NM_001142935:exon5:c.C432G:p.A144A,MXD3:NM_031300:exon5:c.C432G:p.A144A 0.21 0.36 0.17 0.026 0.23 0.2 0.2262 0.3615 0.1144 0.0177 0.2751 0.2455 0.2658 0.2457 0.23 0.29 0.21 0.16 0.13 rs4568379 COSM3761133 1(liver);2(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2038 0.3375 0.1075 0.3209 0.0165 0.2353 0.2221 0.2123 0.2331 0.2393 0.3383 0.1241 0.3113 0.0185 0.2354 0.2137 0.2077 het 288.28 16 5 176734855 . G C 288.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.196;DP=16;Dels=0.00;FS=15.911;HRun=1;HaplotypeScore=1.8633;MQ=60.00;MQ0=0;MQRankSum=-0.718;QD=18.02;ReadPosRankSum=0.588;VQSLOD=2.3859;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,12:16:97.36:318,0,97 5 176831826 176831826 C G exonic F12 nonsynonymous SNV F12:NM_000505:exon7:c.G619C:p.A207P 0.94 0.97 0.88 0.88 0.99 0.95 0.9577 0.9648 0.8155 0.8922 0.9862 0.9862 0.9738 0.9595 0.98 0.96 0.99 0.99 0.79 rs17876030 COSM449394 1(thyroid) Benign|Benign|Benign not_specified|Hereditary_Angioedema|Reduced_factor_XII_activity RCV000252303.1|RCV000264675.1|RCV000360167.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN169374|CN239191|HP:0004841:CN004286 . . . . . . 0.308 0.141 T 0.0 0.026 B 0.0 0.013 B 0.995 0.080 N 1 0.090 P -0.82 0.015 N -2.97 0.920 D 1.21 0.011 N 0.041 0.021 -0.970 0.373 T 0.000 0.000 T . . . 0.333 0.126 6.006 0.291 0.015 0.006 0.028 N c -1.223 -1.180 1.000 0.747 0.564 0.319 0 2.08 0.260 0.217 0.173 -0.203 0.101 0.000 0.063 0.003 0.074 1.726 0.027 EGF-like domain|EGF-like\x2c conserved site|Kringle-like fold . . 0.9493 0.9594 0.8108 0.9863 0.8867 0.9884 0.9866 0.9580 0.9587 0.9701 0.9608 0.8341 0.9868 0.8781 0.9920 0.9871 0.9795 het 358.23 22 5 176831826 . C G 358.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.774;DP=22;Dels=0.00;FS=8.280;HRun=2;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.627;QD=16.28;ReadPosRankSum=-0.184;VQSLOD=3.7153;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,16:22:99:388,0,175 5 176863519 176863519 G C exonic GRK6 synonymous SNV GRK6:NM_001004105:exon13:c.G1392C:p.P464P,GRK6:NM_001004106:exon13:c.G1392C:p.P464P,GRK6:NM_002082:exon13:c.G1392C:p.P464P 0.36 0.39 0.36 0.26 0.5 0.28 0.4479 0.3998 0.2538 0.2473 0.4401 0.5354 0.4393 0.3606 0.5 0.42 0.54 0.33 0.48 rs1130857 COSM3761135;COSM3761136 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4364 0.3861 0.2702 0.5317 0.2529 0.4443 0.5403 0.4631 0.3458 0.4532 0.4019 0.2967 0.5199 0.2506 0.4497 0.5125 0.4640 het 819.40 55 5 176863519 . G C 819.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.102;DP=55;Dels=0.00;FS=4.235;HRun=2;HaplotypeScore=1.9053;MQ=59.16;MQ0=0;MQRankSum=-0.076;QD=14.90;ReadPosRankSum=1.952;VQSLOD=4.8443;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,30:55:99:849,0,629 5 176867943 176867943 A G exonic GRK6 synonymous SNV GRK6:NM_001004105:exon15:c.A1566G:p.Q522Q,GRK6:NM_001004106:exon15:c.A1566G:p.Q522Q,GRK6:NM_002082:exon15:c.A1566G:p.Q522Q 0.35 0.32 0.36 0.26 0.52 0.3 0.4506 0.3292 0.2614 0.2417 0.4474 0.5512 0.4613 0.3638 0.48 0.34 0.56 0.34 0.59 rs335435 COSM4159772;COSM4159771 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4473 0.3213 0.2795 0.5268 0.2496 0.4529 0.5570 0.4812 0.3700 0.4455 0.3347 0.2967 0.5166 0.2512 0.4610 0.5326 0.4745 het 709.85 69 5 176867943 . A G 709.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.089;DP=69;Dels=0.00;FS=6.810;HRun=1;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=-0.216;QD=10.29;ReadPosRankSum=-2.379;VQSLOD=3.4623;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,25:69:99:740,0,1212 5 176885178 176885178 A G exonic DBN1 nonsynonymous SNV DBN1:NM_004395:exon12:c.T1657C:p.S553P,DBN1:NM_080881:exon13:c.T1663C:p.S555P 1. 1. 1. 1. 1. 1. 0.9995 0.9944 0.9997 1 1 1 1 1 1. 1. 1. 1. 0.95 rs28538572 . . . . . . . . . . . . . 0.824 0.029 T 0.0 0.026 B 0.0 0.040 B 0.004 0.010 N 1 0.090 P -0.345 0.033 N 1.35 0.348 T 0.64 0.039 N 0.01 0.075 -0.912 0.466 T 0.000 0.000 T . . . 0.963 0.186 10.45 0.802 0.126 0.044 0.098 N c -1.108 -0.939 1.000 0.437 0.722 0.854 0 2.85 0.322 0.000 0.128 -0.912 0.026 0.659 0.280 0.104 0.190 1.464 0.022 . . . 0.9996 0.9949 0.9997 1 1 1.0000 1.0000 1 1 0.9983 0.9940 1 1 1 1 1 1 hom 2159.09 75 5 176885178 . A G 2159.09 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9933;MQ=60.00;MQ0=0;QD=28.79;VQSLOD=7.1560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:75:99:2192,172,0 5 176885499 176885499 T C exonic DBN1 nonsynonymous SNV DBN1:NM_004395:exon12:c.A1336G:p.I446V,DBN1:NM_080881:exon13:c.A1342G:p.I448V 0.4 0.49 0.37 0.26 0.52 0.29 0.4614 0.4633 0.2665 0.2412 0.4442 0.5504 0.4659 0.3586 0.53 0.48 0.56 0.38 0.56 rs2544809 COSM4159773;COSM4159774 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.426 0.047 N 1 0.090 P -0.345 0.033 N 1.65 0.286 T -0.18 0.108 N 0.017 0.031 -0.947 0.415 T 0.000 0.000 T . . . -1.966 0.008 0.001 0.348 0.021 0.003 0.017 N c -1.431 -1.393 1.000 0.517 0.722 0.854 0 2.76 0.314 -0.725 0.050 -0.382 0.065 0.000 0.063 0.000 0.016 7.004 0.238 . ENSG00000131188.7|ENSG00000131188.7 Adrenal_Gland|Colon_Sigmoid 0.4554 0.4572 0.2855 0.5183 0.2483 0.4510 0.5568 0.4861 0.3653 0.4853 0.4760 0.3091 0.51 0.2506 0.4588 0.5323 0.4783 hom 5124.40 157 5 176885499 . T C 5124.40 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2175;MQ=58.75;MQ0=0;QD=32.64;VQSLOD=7.8525;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,156:157:99:5101,397,0 5 176916516 176916516 C T exonic PDLIM7 synonymous SNV PDLIM7:NM_005451:exon9:c.G747A:p.P249P,PDLIM7:NM_203352:exon9:c.G645A:p.P215P 0.44 0.39 0.38 0.39 0.53 0.5 0.5012 0.4119 0.3274 0.3915 0.5311 0.5397 0.5344 0.5481 0.48 0.38 0.52 0.45 0.47 rs335462 . . . . . . . . . . . . . 0.009 0.574 D 0.003 0.102 B 0.01 0.139 B . . . 0.998 0.588 P . . . 2.47 0.148 T 0.92 0.016 N . . -0.938 0.429 T 0.000 0.000 T . . . 2.162 0.321 17.26 0.921 0.208 0.035 0.086 N c -1.405 -1.479 1.000 0.747 0.784 0.997 0 -10.5 0.002 -5.823 0.001 -0.469 0.054 0.000 0.063 0.996 0.625 3.114 0.059 . ENSG00000113758.9|ENSG00000146067.11|ENSG00000196923.9|ENSG00000196923.9|ENSG00000272459.1|ENSG00000146094.9|ENSG00000027847.9 Artery_Tibial|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Whole_Blood|Whole_Blood 0.4667 0.3728 0.2948 0.5617 0.3624 0.4789 0.5200 0.4946 0.5263 0.4611 0.3976 0.3038 0.5298 0.3495 0.4848 0.5117 0.4653 het 50.44 15 5 176916516 . C T 50.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.501;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.196;QD=3.36;ReadPosRankSum=0.457;VQSLOD=9.7530;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,4:15:80.44:80,0,321 5 176931341 176931341 G A exonic DOK3 synonymous SNV DOK3:NM_001308235:exon6:c.C966T:p.S322S,DOK3:NM_001308236:exon6:c.C966T:p.S322S,DOK3:NM_024872:exon6:c.C1134T:p.S378S 0.009 0.033 0.0029 . . . 0.0032 0.0197 0.0008 0 0.0013 0.0016 0.0015 0.0037 0.0055 0.015 0.0008 0.022 . rs113301444 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0179 0.0010 0 0 0.0009 0.0013 0.0021 0.0022 0.0050 0.0144 0.0012 0 0 0.0009 0.0015 0.0031 het 404.54 26 5 176931341 . G A 404.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.218;DP=26;Dels=0.00;FS=4.483;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.311;QD=15.56;ReadPosRankSum=0.519;VQSLOD=5.3479;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,15:26:99:435,0,256 5 176936590 176936590 T C exonic DOK3 synonymous SNV DOK3:NM_024872:exon2:c.A120G:p.S40S 0.15 0.25 0.098 0.17 0.052 0.12 0.0885 0.1899 0.0747 0.1963 0.0413 0.0592 0.0858 0.1185 0.097 0.18 0.054 0.12 0.049 rs2112181 COSM4005992 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0828 0.1867 0.0729 0.0910 0.1930 0.0428 0.0550 0.0734 0.1072 0.0982 0.1864 0.0609 0.0828 0.1775 0.0493 0.0536 0.0777 het 870.51 76 5 176936590 . T C 870.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.677;DP=76;Dels=0.00;FS=3.592;HRun=0;HaplotypeScore=1.3990;MQ=60.00;MQ0=0;MQRankSum=1.519;QD=11.45;ReadPosRankSum=-2.450;VQSLOD=4.2244;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,38:76:99:900,0,1082 5 176936650 176936650 T C exonic DOK3 synonymous SNV DOK3:NM_024872:exon2:c.A60G:p.L20L 0.99 0.97 1. 1. 1. 1. 0.9974 0.9731 0.9980 1 1 1 1 0.9998 0.99 0.97 1. 0.99 0.89 rs28565502 COSM4159777 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9722 0.9982 1 1 1 1.0000 0.9986 0.9998 0.9916 0.9709 0.9976 1 1 1 0.9998 1 hom 1064.48 33 5 176936650 . T C 1064.48 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.26;VQSLOD=13.8346;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:84.27:1097,84,0 5 176936819 176936819 C G exonic DOK3 nonsynonymous SNV DOK3:NM_024872:exon1:c.G35C:p.R12P 0.15 0.25 0.098 0.17 0.052 0.12 0.0869 0.1894 0.0730 0.1902 0.0422 0.0588 0.0871 0.1089 0.095 0.18 0.053 0.12 0.041 rs3749728 . . . . . . . . . . . . . 0.065 0.363 T 0.104 0.244 B 0.02 0.179 B 0.008 0.012 U 1 0.090 P 0 0.065 N 2.02 0.211 T -0.16 0.095 N 0.09 0.088 -0.970 0.372 T 0.000 0.000 T . . . 0.519 0.144 7.573 0.510 0.044 0.248 0.223 N c -1.533 -1.580 1.000 0.747 0.616 0.391 0 -1.2 0.090 -0.034 0.121 -0.583 0.045 0.000 0.063 0.002 0.062 6.154 0.194 . ENSG00000146094.9|ENSG00000248996.1|ENSG00000146094.9|ENSG00000146094.9|ENSG00000146094.9|ENSG00000146094.9|ENSG00000146094.9|ENSG00000146094.9|ENSG00000146094.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Thyroid 0.0816 0.1821 0.0725 0.0926 0.1909 0.0418 0.0539 0.0755 0.1064 0.0980 0.1863 0.0609 0.0828 0.1761 0.0493 0.0534 0.0768 het 278.91 24 5 176936819 . C G 278.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.844;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=0.263;QD=11.62;ReadPosRankSum=1.142;VQSLOD=6.3242;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,10:24:99:309,0,390 5 176940384 176940384 G A exonic DDX41 synonymous SNV DDX41:NM_001321732:exon10:c.C822T:p.R274R,DDX41:NM_001321830:exon11:c.C822T:p.R274R,DDX41:NM_016222:exon11:c.C1200T:p.R400R 0.39 0.45 0.32 0.21 0.47 0.44 0.4198 0.4543 0.2859 0.1725 0.4531 0.4555 0.4295 0.4633 0.46 0.46 0.46 0.43 0.42 rs335438 COSM3761138 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4133 0.4541 0.2933 0.4066 0.1717 0.4528 0.4595 0.4282 0.4635 0.4396 0.4548 0.3266 0.4040 0.1702 0.4526 0.4664 0.4061 het 2887.35 233 5 176940384 . G A 2887.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.593;DP=233;Dels=0.00;FS=3.446;HRun=0;HaplotypeScore=10.1018;MQ=59.15;MQ0=0;MQRankSum=0.954;QD=12.39;ReadPosRankSum=0.412;VQSLOD=4.3985;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,114:233:99:2917,0,2857 5 176951276 176951276 A G exonic FAM193B nonsynonymous SNV FAM193B:NM_001190946:exon6:c.T2206C:p.S736P 0.97 0.89 0.99 1. 1. 1. 0.9921 0.9075 0.9934 1 1 0.9999 0.9969 0.9997 0.97 0.91 1. 0.97 . rs337382 COSM4159778;COSM4159779 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.300 0.146 N 1.000 0.194 P -1.1 0.010 N 0.64 0.529 T 0.87 0.017 N 0.218 0.267 -0.931 0.440 T 0.000 0.000 T . . . 0.463 0.138 7.142 0.322 0.018 0.027 0.073 N c -0.852 -0.736 0.995 0.337 0.707 0.730 0 2.87 0.324 0.123 0.154 -0.322 0.076 0.030 0.202 0.948 0.423 8.964 0.348 . ENSG00000183258.7 Cells_Transformed_fibroblasts 0.9929 0.9005 0.9941 0.9996 0.9999 0.9997 0.9998 0.9960 0.9995 0.9715 0.9007 0.9893 1 1 1 0.9995 0.9990 hom 711.60 24 5 176951276 . A G 711.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.589;DP=24;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=1.445;QD=29.65;ReadPosRankSum=-1.156;VQSLOD=7.1599;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,23:24:34.55:745,35,0 5 177422876 177422876 T C exonic PROP1 nonsynonymous SNV PROP1:NM_006261:exon1:c.A59G:p.N20S 1. 1. 1. 1. 1. 1. 0.9999 0.9991 1 1 1 1 1 1 1. 1. 1. 0.95 0.98 rs7445271 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.601 0.110 N 1 0.090 P -1.65 0.004 N -2.35 0.881 D 0.65 0.023 N 0.006 0.002 -0.978 0.355 T 0.000 0.000 T . . . -2.637 0.003 0.001 0.151 0.004 0.000 0.003 N c -1.432 -1.421 0.133 0.171 0.497 0.185 0 1.48 0.218 0.440 0.212 -0.086 0.118 0.043 0.209 0.014 0.122 3.740 0.080 . . . 0.9999 0.9992 0.9999 1 1 1 1 1 1 0.9997 0.9991 1 1 1 1 1 1 hom 3023.84 106 5 177422876 . T C 3023.84 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7781;MQ=58.12;MQ0=0;QD=28.53;VQSLOD=6.8404;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:106:99:3057,250,0 5 177422908 177422908 A G exonic PROP1 synonymous SNV PROP1:NM_006261:exon1:c.T27C:p.A9A 0.45 0.25 0.49 0.56 0.47 0.55 0.4758 0.2781 0.5630 0.5785 0.4844 0.4530 0.5055 0.5725 0.39 0.29 0.45 0.36 0.39 rs1135320 COSM4159781 1(thyroid) Benign|Benign Combined_Pituitary_Hormone_Deficiency\x2c_Recessive|not_specified RCV000377173.1|RCV000455148.1 MedGen|MedGen CN239344|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4841 0.2776 0.5587 0.5232 0.5762 0.4861 0.4461 0.4881 0.5768 0.3986 0.2798 0.5095 0.4967 0.5523 0.4825 0.4193 0.4591 hom 2657.70 87 5 177422908 . A G 2657.70 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9973;MQ=59.50;MQ0=0;QD=30.55;VQSLOD=8.8142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2691,217,0 5 177546780 177546780 A G exonic N4BP3 nonsynonymous SNV N4BP3:NM_015111:exon2:c.A196G:p.S66G 0.0022 0.0008 0.0043 . 0.007 . 0.0040 0.0010 0.0037 0 0 0.0064 0.0045 0 0.0047 0.0005 0.0069 . 0.016 rs145353567 . . . . . . . . . . . . . 0.946 0.022 T 0.0 0.026 B 0.0 0.013 B 0.829 0.091 N 1 0.090 N 0.255 0.098 N 6.93 0.005 T 0.18 0.050 N 0.032 0.012 -1.011 0.266 T 0.001 0.002 T . . . -1.978 0.008 0.001 0.121 0.002 0.035 0.086 N c -1.457 -1.471 1.000 0.437 0.745 0.986 0 -3.12 0.049 -0.285 0.084 -0.283 0.084 0.005 0.169 0.929 0.403 4.138 0.096 . . . 0.0039 0.0009 0.0044 0.0007 0 0.0001 0.0069 0.0040 0 0.0036 0.0010 0.0084 0 0 0.0003 0.0063 0 het 2545.58 216 5 177546780 . A G 2545.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.402;DP=216;Dels=0.00;FS=0.527;HRun=1;HaplotypeScore=4.0285;MQ=59.58;MQ0=0;MQRankSum=0.882;QD=11.79;ReadPosRankSum=-1.158;VQSLOD=4.1807;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,107:216:99:2576,0,3104 5 177547247 177547247 T C exonic N4BP3 synonymous SNV N4BP3:NM_015111:exon3:c.T399C:p.S133S 1. 1. 1. 1. 1. 1. 0.9998 0.9979 1 1 1 1 1 1 1. 1. 1. 0.99 0.97 rs7719667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9974 0.9999 1 1 1 1 1 1 0.9991 0.9967 1 1 1 1 1 1 hom 2119.42 72 5 177547247 . T C 2119.42 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=57.89;MQ0=0;QD=29.44;VQSLOD=7.5127;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:72:99:2152,171,0 5 177683377 177683377 T C exonic COL23A1 nonsynonymous SNV COL23A1:NM_173465:exon15:c.A859G:p.T287A 0.52 0.6 0.58 0.43 0.49 0.5 0.5213 0.5810 0.5773 0.4297 0.4885 0.5120 0.5361 0.5427 0.53 0.58 0.51 0.56 0.35 rs890802 . . . . . . . . . . . . . 0.689 0.043 T 0.024 0.178 B 0.023 0.188 B 0.459 0.049 N 1 0.090 P -0.705 0.018 N -1.64 0.825 D 0.64 0.024 N 0.019 0.022 -1.098 0.044 T 0.000 0.000 T . . . -2.604 0.003 0.001 0.300 0.016 0.003 0.015 N c -2.138 -2.209 1.000 0.747 0.696 0.567 0 -8.84 0.007 -2.435 0.011 -1.697 0.008 0.000 0.063 0.000 0.016 6.539 0.214 . ENSG00000175309.10|ENSG00000050767.11 Testis|Testis 0.5159 0.5682 0.5727 0.5821 0.4277 0.4694 0.5033 0.5310 0.5312 0.5167 0.5732 0.5718 0.5861 0.4241 0.4888 0.4970 0.5010 het 159.63 18 5 177683377 . T C 159.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.122;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9584;MQ=56.19;MQ0=0;MQRankSum=1.317;QD=8.87;ReadPosRankSum=-0.049;VQSLOD=3.3481;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,7:18:99:190,0,212 5 178294059 178294059 T C exonic ZNF354B synonymous SNV ZNF354B:NM_058230:exon4:c.T243C:p.G81G 0.3 0.38 0.31 0.15 0.43 0.23 0.3501 0.3867 0.2806 0.1472 0.4654 0.3930 0.3789 0.2605 0.38 0.36 0.39 0.12 0.44 rs11952817 COSM150026 1(stomach);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3514 0.3863 0.2929 0.3769 0.1437 0.4606 0.3952 0.3750 0.2637 0.3932 0.3909 0.2943 0.4040 0.1525 0.4771 0.4069 0.3860 hom 6529.48 223 5 178294059 . T C 6529.48 Mask AC=2;AF=1.00;AN=2;DP=223;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5650;MQ=57.53;MQ0=1;QD=29.28;VQSLOD=6.4726;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:6529,491,0 5 178294060 178294060 G A exonic ZNF354B nonsynonymous SNV ZNF354B:NM_058230:exon4:c.G244A:p.V82I 0.12 0.27 0.11 . 0.12 0.046 0.1076 0.2462 0.0545 0.0003 0.1297 0.1226 0.1211 0.0438 0.14 0.21 0.11 . 0.16 rs11955074 COSM3761143 1(large_intestine) . . . . . . . . . . . 0.412 0.171 T 0.009 0.139 B 0.006 0.112 B . . . 1 0.090 P 0 0.065 N 3.42 0.055 T -0.49 0.156 N 0.015 0.002 -0.922 0.454 T 0.000 0.000 T . . . -0.942 0.034 0.021 0.551 0.052 0.052 0.109 N c -1.248 -1.278 0.394 0.201 0.563 0.310 0 0.785 0.177 -0.040 0.120 -0.490 0.052 0.000 0.063 0.000 0.016 4.366 0.106 Krueppel-associated box ENSG00000253869.1|ENSG00000198939.3|ENSG00000253869.1|ENSG00000253869.1 Breast_Mammary_Tissue|Nerve_Tibial|Nerve_Tibial|Thyroid 0.1027 0.2498 0.0582 0.1084 0.0003 0.1255 0.1222 0.1127 0.0444 0.1529 0.2570 0.0537 0.1159 0 0.1294 0.1239 0.1076 hom 6319.71 221 5 178294060 . G A 6319.71 Mask AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5650;MQ=57.50;MQ0=1;QD=28.60;VQSLOD=6.0586;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:6319,488,0 5 178310446 178310446 C T exonic ZNF354B synonymous SNV ZNF354B:NM_058230:exon5:c.C993T:p.G331G 0.43 0.47 0.41 0.25 0.61 0.36 0.5204 0.4818 0.3630 0.2472 0.6676 0.6065 0.5552 0.3889 0.57 0.49 0.61 0.42 0.59 rs4130052 COSM150027 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(liver);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5182 0.4803 0.3776 0.5653 0.2415 0.6709 0.6067 0.5371 0.3964 0.5631 0.4913 0.3983 0.5861 0.2674 0.6624 0.6206 0.5867 hom 1785.41 59 5 178310446 . C T 1785.41 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.53;MQ0=0;QD=30.26;VQSLOD=8.0461;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1818,153,0 5 178358857 178358857 C T exonic ZFP2 synonymous SNV ZFP2:NM_030613:exon5:c.C543T:p.T181T 0.042 0.016 0.065 . 0.11 0.036 0.0756 0.0226 0.0390 0.0003 0.1205 0.1046 0.1067 0.0364 0.08 0.03 0.11 0.054 0.11 rs61744382 COSM3761144 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0748 0.0217 0.0413 0.1002 0.0005 0.1167 0.1028 0.0922 0.0370 0.0765 0.0265 0.0335 0.1126 0 0.1229 0.1043 0.0837 het 924.95 79 5 178358857 . C T 924.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.668;DP=79;Dels=0.00;FS=5.825;HRun=0;HaplotypeScore=1.8606;MQ=59.42;MQ0=0;MQRankSum=0.708;QD=11.71;ReadPosRankSum=-0.282;VQSLOD=4.9655;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,34:79:99:955,0,1139 5 178391902 178391902 A C exonic ZNF454 nonsynonymous SNV ZNF454:NM_001178089:exon5:c.A497C:p.D166A,ZNF454:NM_001178090:exon5:c.A497C:p.D166A,ZNF454:NM_001323306:exon5:c.A497C:p.D166A,ZNF454:NM_182594:exon5:c.A497C:p.D166A 0.66 0.64 0.69 0.66 0.69 0.63 0.6721 0.6353 0.6771 0.6581 0.6743 0.6819 0.6821 0.6583 0.67 0.64 0.68 0.7 0.67 rs12719860 COSM4407322 1(liver) . . . . . . . . . . . 0.794 0.032 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P 0 0.065 N 3.22 0.070 T 0.73 0.021 N 0.043 0.023 -0.970 0.372 T 0.000 0.000 T . . . -1.461 0.018 0.003 0.361 0.023 0.001 0.009 N c -1.495 -1.468 0.000 0.063 0.638 0.428 0 0.689 0.171 -1.515 0.023 -0.240 0.092 0.000 0.063 0.001 0.043 0.826 0.010 . ENSG00000178187.3|ENSG00000178187.3|ENSG00000178187.3|ENSG00000178187.3|ENSG00000178187.3|ENSG00000178187.3|ENSG00000178187.3|ENSG00000178187.3|ENSG00000178187.3|ENSG00000178187.3|ENSG00000178187.3|ENSG00000178187.3 Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Ovary|Pituitary|Thyroid 0.6739 0.6316 0.6827 0.7021 0.6598 0.6609 0.6825 0.6879 0.6598 0.6659 0.6325 0.6754 0.6954 0.6442 0.6794 0.6839 0.6578 hom 3368.64 113 5 178391902 . A C 3368.64 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7782;MQ=58.65;MQ0=0;QD=29.81;VQSLOD=8.7713;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3368,259,0 5 178409927 178409927 G A exonic GRM6 nonsynonymous SNV GRM6:NM_000843:exon9:c.C2420T:p.A807V 0.04 0.014 0.06 . 0.11 0.033 0.0716 0.0203 0.0394 0.0002 0.1198 0.0982 0.1038 0.0354 0.072 0.025 0.097 0.054 0.11 rs17078874 COSM3761147 3(soft_tissue);1(large_intestine) not provided not_provided RCV000086049.2 MedGen CN221809 . . . . . . 0.002 0.721 D 0.566 0.366 P 0.292 0.390 B . . . 0.000 0.491 P 2.095 0.583 M -2.38 0.883 D -2.75 0.584 D 0.174 0.376 -0.461 0.701 T 0.065 0.269 T . . . 5.066 0.682 25.3 0.999 0.967 0.983 0.815 D c 0.399 0.467 1.000 0.747 0.428 0.059 0 4.79 0.608 7.989 0.878 0.902 0.416 0.999 0.424 0.996 0.625 15.715 0.773 GPCR family 3\x2c C-terminal ENSG00000253869.1 Nerve_Tibial 0.0702 0.0195 0.0402 0.0739 0.0002 0.1162 0.0956 0.0876 0.0372 0.0714 0.0241 0.0382 0.0861 0 0.1197 0.0964 0.0804 het 1444.18 158 5 178409927 . G A 1444.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.834;DP=158;Dels=0.00;FS=0.622;HRun=0;HaplotypeScore=2.8452;MQ=58.95;MQ0=0;MQRankSum=-0.700;QD=9.14;ReadPosRankSum=-0.846;VQSLOD=5.1887;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,66:158:99:1474,0,2553 5 178410151 178410151 C T exonic GRM6 synonymous SNV GRM6:NM_000843:exon9:c.G2196A:p.T732T 0.25 0.22 0.2 0.37 0.17 0.29 0.2069 0.2052 0.1962 0.3893 0.1799 0.1685 0.2151 0.2850 0.18 0.2 0.17 0.26 0.22 rs2071247 . . not provided not_provided RCV000086046.1 MedGen CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2015 0.2027 0.1907 0.1585 0.3762 0.1777 0.1643 0.1979 0.2811 0.1916 0.2092 0.1659 0.1788 0.3830 0.1849 0.1649 0.1755 het 1311.59 98 5 178410151 . C T 1311.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.041;DP=98;Dels=0.00;FS=3.810;HRun=0;HaplotypeScore=2.3046;MQ=59.76;MQ0=0;MQRankSum=-1.778;QD=13.38;ReadPosRankSum=0.946;VQSLOD=5.3376;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,47:98:99:1342,0,1335 5 178413947 178413947 T C exonic GRM6 synonymous SNV GRM6:NM_000843:exon7:c.A1392G:p.G464G 0.54 0.4 0.61 0.59 0.64 0.51 0.5997 0.4345 0.6150 0.5848 0.6280 0.6479 0.5714 0.4963 0.57 0.43 0.64 0.47 0.66 rs11746675 COSM4159789 2(thyroid) not provided|Benign not_provided|not_specified RCV000086026.1|RCV000179788.1 MedGen|MedGen CN221809|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6005 0.4297 0.6206 0.6061 0.5805 0.6210 0.6457 0.6024 0.4941 0.5794 0.4257 0.5895 0.6333 0.5707 0.6343 0.6535 0.6074 hom 1943.82 56 5 178413947 . T C 1943.82 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6553;MQ=60.00;MQ0=0;QD=34.71;VQSLOD=9.4929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1977,156,0 5 178415937 178415937 A G exonic GRM6 synonymous SNV GRM6:NM_000843:exon6:c.T1353C:p.N451N 0.51 0.39 0.53 0.59 0.55 0.51 0.5328 0.4163 0.5702 0.5854 0.5711 0.5497 0.4895 0.4704 0.49 0.41 0.54 0.43 0.52 rs2067011 COSM4159790 1(thyroid);1(large_intestine) not provided|Benign not_provided|not_specified RCV000086024.1|RCV000179348.1 MedGen|MedGen CN221809|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5318 0.4050 0.5734 0.4810 0.5820 0.5662 0.5464 0.5223 0.4629 0.5198 0.4011 0.5478 0.52 0.5664 0.5799 0.5666 0.5460 het 461.05 44 5 178415937 . A G 461.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.864;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=58.51;MQ0=0;MQRankSum=0.766;QD=10.48;ReadPosRankSum=1.803;VQSLOD=5.7954;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,20:44:99:491,0,691 5 178415982 178415982 A G exonic GRM6 synonymous SNV GRM6:NM_000843:exon6:c.T1308C:p.T436T 0.99 0.95 0.99 1. 1. 1. 0.9952 0.9470 0.9984 1 1 0.9999 0.9967 0.9999 0.98 0.95 1. 0.75 1. rs4701014 . . Benign not_specified RCV000179345.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9477 0.9984 0.9999 0.9999 1 0.9999 0.9989 0.9998 0.9862 0.9511 1 1 1 1 0.9999 1 hom 1909.83 67 5 178415982 . A G 1909.83 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.31;MQ0=0;QD=28.50;VQSLOD=7.5880;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1943,159,0 5 178416063 178416063 G A exonic GRM6 synonymous SNV GRM6:NM_000843:exon6:c.C1227T:p.Y409Y . . . . . . 0.5256 0.3990 0.5695 0.5805 0.5621 0.5448 0.4876 0.4566 0.49 0.4 0.53 0.43 0.56 rs2645339 COSM1180460 1(prostate);2(thyroid) Likely benign|Benign not_provided|not_specified RCV000086023.2|RCV000179347.1 MedGen|MedGen CN221809|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5285 0.3959 0.5727 0.4732 0.5793 0.5595 0.5452 0.5213 0.4541 0.5106 0.3886 0.5455 0.5167 0.5639 0.5724 0.5574 0.5378 het 1130.96 71 5 178416063 . G A 1130.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.820;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.73;MQ0=0;MQRankSum=0.424;QD=15.93;ReadPosRankSum=0.841;VQSLOD=6.7688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,45:71:99:1161,0,645 5 178416288 178416288 G A exonic GRM6 synonymous SNV GRM6:NM_000843:exon5:c.C1131T:p.D377D 0.72 0.78 0.68 0.7 0.75 0.68 0.7241 0.7531 0.6629 0.6989 0.7936 0.7439 0.6982 0.6557 0.74 0.75 0.73 0.72 0.75 rs2071246 COSM4159791 2(thyroid) not provided|Benign not_provided|not_specified RCV000086022.1|RCV000178809.1 MedGen|MedGen CN221809|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7225 0.7530 0.6687 0.6424 0.7015 0.7951 0.7496 0.7230 0.6528 0.7641 0.7570 0.6583 0.6767 0.7182 0.8014 0.7734 0.7426 het 1699.84 113 5 178416288 . G A 1699.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.148;DP=113;Dels=0.00;FS=3.374;HRun=0;HaplotypeScore=0.8667;MQ=59.39;MQ0=0;MQRankSum=0.119;QD=15.04;ReadPosRankSum=-1.147;VQSLOD=6.3864;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,63:113:99:1730,0,1148 5 178507069 178507069 T C exonic ZNF354C nonsynonymous SNV ZNF354C:NM_014594:exon5:c.T1636C:p.F546L 0.78 0.74 0.74 0.89 0.67 0.85 0.7212 0.7171 0.7044 0.8764 0.6893 0.6787 0.7680 0.8416 0.69 0.72 0.67 0.84 0.59 rs1445846 . . . . . . . . . . . . . 0.722 0.039 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.145 0.044 N 3.61 0.045 T -0.76 0.212 N 0.046 0.026 -1.085 0.065 T 0.000 0.000 T . . . 1.392 0.231 12.75 0.953 0.260 0.000 0.002 N c -1.044 -0.986 0.000 0.072 0.554 0.283 0 1.48 0.218 1.260 0.324 0.040 0.155 0.069 0.218 0.962 0.444 2.635 0.046 Zinc finger C2H2-type/integrase DNA-binding domain ENSG00000177932.6|ENSG00000177932.6|ENSG00000177932.6|ENSG00000177932.6 Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Testis 0.7208 0.7152 0.7113 0.7590 0.8770 0.6914 0.6735 0.7352 0.8365 0.6956 0.7184 0.7026 0.7067 0.8792 0.6836 0.6646 0.6977 hom 2328.02 74 5 178507069 . T C 2328.02 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;QD=31.46;VQSLOD=9.3156;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2361,181,0 5 178507090 178507090 G A exonic ZNF354C nonsynonymous SNV ZNF354C:NM_014594:exon5:c.G1657A:p.E553K 0.78 0.74 0.74 0.89 0.67 0.85 0.7194 0.7174 0.7047 0.8760 0.6892 0.6783 0.7625 0.8451 0.69 0.72 0.68 0.83 0.6 rs1445845 . . . . . . . . . . . . . 0.243 0.175 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P 0.255 0.098 N 3.54 0.048 T -0.95 0.253 N 0.137 0.159 -1.022 0.230 T 0.000 0.000 T . . . 1.948 0.295 15.89 0.982 0.389 0.009 0.035 N c -0.985 -0.917 0.001 0.086 0.554 0.283 0 2.62 0.302 0.595 0.236 0.998 0.613 0.000 0.063 0.022 0.137 9.140 0.359 . ENSG00000177932.6|ENSG00000177932.6|ENSG00000177932.6|ENSG00000177932.6 Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Testis 0.7203 0.7156 0.7121 0.7592 0.8761 0.6925 0.6739 0.7389 0.8378 0.6952 0.7183 0.7029 0.7067 0.8793 0.6834 0.6639 0.6965 hom 1789.91 59 5 178507090 . G A 1789.91 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.34;VQSLOD=13.2218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1823,141,0 5 178540975 178540975 G A exonic ADAMTS2 nonsynonymous SNV ADAMTS2:NM_014244:exon22:c.C3529T:p.P1177S 0.26 0.04 0.38 0.31 0.3 0.4 0.2998 0.0744 0.4087 0.3200 0.2966 0.2957 0.3359 0.3712 0.22 0.081 0.29 0.22 0.23 rs1054480 COSM3761149 1(skin);1(large_intestine) Benign|Benign Ehlers-Danlos_syndrome\x2c_type_vii\x2c_autosomal_recessive|not_specified RCV000299782.1|RCV000422671.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C2700425:225410:ORPHA1901:55711009|CN169374 . . . . . . 0.131 0.266 T 0.651 0.388 P 0.084 0.277 B 0.004 0.345 N 0.780 0.293 P 2.015 0.552 M 0.35 0.580 T -0.58 0.174 N 0.061 0.045 -0.969 0.374 T 0.000 0.000 T . . . 0.408 0.133 6.685 0.986 0.425 0.910 0.525 D c -0.098 0.007 0.995 0.338 0.615 0.372 0 5.05 0.674 3.988 0.564 0.953 0.551 1.000 0.715 0.425 0.258 17.394 0.873 . . . 0.3089 0.0732 0.4086 0.3095 0.3207 0.2929 0.2952 0.3181 0.3705 0.2366 0.0846 0.3914 0.2748 0.3108 0.2791 0.2921 0.3245 het 2437.18 177 5 178540975 . G A 2437.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.571;DP=177;Dels=0.00;FS=3.550;HRun=0;HaplotypeScore=11.0682;MQ=59.45;MQ0=0;MQRankSum=0.499;QD=13.77;ReadPosRankSum=-0.970;VQSLOD=3.9982;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,97:177:99:2467,0,2115 5 178634547 178634547 G A exonic ADAMTS2 synonymous SNV ADAMTS2:NM_014244:exon4:c.C858T:p.H286H,ADAMTS2:NM_021599:exon4:c.C858T:p.H286H 0.14 0.13 0.14 0.0089 0.21 0.2 0.1722 0.1284 0.0832 0.0038 0.2046 0.2051 0.1949 0.2034 0.17 0.13 0.2 0.098 0.2 rs66565583 COSM4406947;COSM4406948 1(liver) Likely benign|Benign Ehlers-Danlos_syndrome\x2c_type_vii\x2c_autosomal_recessive|not_specified RCV000275137.1|RCV000424700.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C2700425:225410:ORPHA1901:55711009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1672 0.1233 0.0877 0.2260 0.0038 0.1980 0.2002 0.1814 0.2037 0.1732 0.1250 0.1148 0.2252 0.0019 0.2106 0.2122 0.1916 het 3917.30 250 5 178634547 . G A 3917.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.017;DP=250;DS;Dels=0.00;FS=6.573;HRun=0;HaplotypeScore=2.3983;MQ=59.67;MQ0=0;MQRankSum=-0.735;QD=15.67;ReadPosRankSum=-1.197;VQSLOD=4.3670;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3293,0,3125 5 178634619 178634619 C T exonic ADAMTS2 synonymous SNV ADAMTS2:NM_014244:exon4:c.G786A:p.A262A,ADAMTS2:NM_021599:exon4:c.G786A:p.A262A 0.92 0.88 0.94 0.99 0.91 0.92 0.9296 0.8925 0.9571 0.9985 0.9586 0.9227 0.9295 0.9141 0.92 0.89 0.93 0.58 0.89 rs423552 COSM4159794;COSM4159795 1(thyroid) Benign|Benign Ehlers-Danlos_syndrome\x2c_type_vii\x2c_autosomal_recessive|not_specified RCV000330251.1|RCV000435641.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C2700425:225410:ORPHA1901:55711009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9332 0.8914 0.9538 0.9348 0.9986 0.9614 0.9224 0.9225 0.9152 0.9314 0.8979 0.9439 0.9404 0.9981 0.9562 0.9357 0.95 het 4257.76 228 5 178634619 . C T 4257.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.683;DP=228;DS;Dels=0.00;FS=2.382;HRun=0;HaplotypeScore=2.5233;MQ=59.35;MQ0=0;MQRankSum=0.017;QD=18.67;ReadPosRankSum=0.744;VQSLOD=5.8433;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,125:228:99:3652,0,2497 5 178634672 178634672 C T exonic ADAMTS2 nonsynonymous SNV ADAMTS2:NM_014244:exon4:c.G733A:p.V245I,ADAMTS2:NM_021599:exon4:c.G733A:p.V245I 0.43 0.41 0.26 0.63 0.28 0.54 0.3554 0.3889 0.2397 0.6641 0.3082 0.2960 0.3570 0.5121 0.33 0.38 0.3 0.28 0.34 rs398829 COSM3761155;COSM3761156 1(pancreas);1(large_intestine) Benign|Benign Ehlers-Danlos_syndrome\x2c_type_vii\x2c_autosomal_recessive|not_specified RCV000384500.1|RCV000425362.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C2700425:225410:ORPHA1901:55711009|CN169374 . . . . . . 0.485 0.091 T 0.003 0.102 B 0.003 0.080 B 0.746 0.097 N 1 0.090 P 1.245 0.315 L 0.28 0.596 T 0.07 0.061 N 0.031 0.012 -0.916 0.462 T 0.000 0.000 T . . . 0.589 0.150 8.079 0.904 0.191 0.093 0.149 N c -0.862 -0.872 0.990 0.319 0.646 0.450 0 1.18 0.200 -0.205 0.093 0.066 0.173 0.000 0.063 0.705 0.310 6.688 0.222 . ENSG00000253869.1 Testis 0.3496 0.3929 0.2464 0.3445 0.6589 0.3085 0.2930 0.3244 0.5081 0.3381 0.3769 0.2566 0.3543 0.6907 0.3010 0.2910 0.3292 het 3140.80 216 5 178634672 . C T 3140.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.380;DP=216;DS;Dels=0.00;FS=4.966;HRun=0;HaplotypeScore=8.1556;MQ=59.68;MQ0=0;MQRankSum=-0.688;QD=14.54;ReadPosRankSum=-1.013;VQSLOD=4.1753;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,113:216:99:3171,0,2546 5 178770981 178770981 A G exonic ADAMTS2 synonymous SNV ADAMTS2:NM_014244:exon2:c.T321C:p.S107S,ADAMTS2:NM_021599:exon2:c.T321C:p.S107S . . . . . . 0.4092 0.2346 0.5685 0.4922 0.4626 0.3602 0.4014 0.5216 0.31 0.22 0.35 0.38 0.3 rs2271212 COSM3761157;COSM3761158 1(large_intestine) Benign|Benign Ehlers-Danlos_syndrome\x2c_type_vii\x2c_autosomal_recessive|not_specified RCV000390308.1|RCV000425967.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C2700425:225410:ORPHA1901:55711009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4099 0.2182 0.5380 0.3259 0.4868 0.4553 0.3533 0.3791 0.5174 0.3401 0.2218 0.4881 0.3609 0.4795 0.4585 0.3541 0.3929 het 384.84 36 5 178770981 . A G 384.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.334;DP=36;Dels=0.00;FS=1.377;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-0.907;QD=10.69;ReadPosRankSum=-3.008;VQSLOD=3.8631;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,16:36:99:415,0,503 5 179036433 179036433 G A exonic RUFY1 synonymous SNV RUFY1:NM_001040451:exon17:c.G1716A:p.L572L,RUFY1:NM_001040452:exon18:c.G1716A:p.L572L,RUFY1:NM_025158:exon18:c.G2040A:p.L680L 0.27 0.29 0.31 0.17 0.43 0.16 0.3470 0.3256 0.2110 0.1755 0.4563 0.4227 0.3698 0.1943 0.4 0.33 0.44 0.25 0.47 rs17355294 COSM4159801;COSM4159800 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3443 0.3237 0.2239 0.2978 0.1769 0.4406 0.4355 0.3407 0.1973 0.3791 0.3214 0.2339 0.2467 0.1760 0.4354 0.4309 0.4014 het 1768.46 102 5 179036433 . G A 1768.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.937;DP=102;Dels=0.00;FS=6.821;HRun=0;HaplotypeScore=9.0468;MQ=58.58;MQ0=0;MQRankSum=0.318;QD=17.34;ReadPosRankSum=-1.095;VQSLOD=3.0528;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:36,66:102:99:1798,0,1011 5 179193598 179193598 C T exonic MAML1 synonymous SNV MAML1:NM_014757:exon2:c.C1587T:p.S529S 0.17 0.026 0.22 0.15 0.32 0.18 0.2430 0.0592 0.1678 0.1581 0.3551 0.2978 0.2577 0.1874 0.22 0.071 0.3 0.13 0.26 rs3797776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2429 0.0564 0.1690 0.2414 0.1545 0.3505 0.2985 0.2558 0.1842 0.2319 0.0657 0.1830 0.2748 0.1489 0.3458 0.3105 0.2705 het 1065.98 71 5 179193598 . C T 1065.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.625;DP=71;Dels=0.00;FS=0.955;HRun=0;HaplotypeScore=1.7287;MQ=59.68;MQ0=0;MQRankSum=-0.301;QD=15.01;ReadPosRankSum=-0.621;VQSLOD=6.5937;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,42:71:99:1096,0,757 5 179201847 179201847 G A exonic MAML1 nonsynonymous SNV MAML1:NM_014757:exon5:c.G3020A:p.S1007N 0.23 0.2 0.26 0.15 0.36 0.2 0.2835 0.2124 0.1974 0.1605 0.3627 0.3348 0.2876 0.2123 0.3 0.22 0.34 0.28 0.31 rs6895902 COSM1600104 1(liver);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.441 N 1 0.090 P -2.135 0.001 N 1.99 0.217 T 1.11 0.012 N 0.01 0.001 -0.906 0.473 T 0.000 0.000 T . . . -0.186 0.077 1.173 0.209 0.008 0.270 0.229 N c -1.139 -0.898 1.000 0.467 0.707 0.730 0 1.61 0.226 1.058 0.299 -1.755 0.007 0.885 0.308 0.334 0.243 9.161 0.360 . . . 0.2797 0.2119 0.1990 0.2808 0.1562 0.3573 0.3370 0.2932 0.2057 0.2922 0.2111 0.2093 0.3146 0.1514 0.3506 0.3447 0.2986 het 2268.99 219 5 179201847 . G A 2268.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.221;DP=219;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8991;MQ=59.79;MQ0=0;MQRankSum=-0.018;QD=10.36;ReadPosRankSum=0.434;VQSLOD=5.3381;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:127,92:219:99:2299,0,3408 5 179229032 179229032 G A exonic MGAT4B nonsynonymous SNV MGAT4B:NM_054013:exon1:c.C80T:p.T27I 0.007 0.0008 0.0086 . 0.022 0.0061 0.0148 0.0052 0.0055 0 0.0262 0.0208 0.0158 0.0054 0.018 0.0057 0.024 0.011 0.025 rs75359599 . . . . . . . . . . . . . 0.007 0.599 D 0.003 0.102 B 0.003 0.080 B 0.000 0.002 N 1 0.090 N . . . 1.45 0.325 T -0.69 0.197 N 0.127 0.144 -1.020 0.238 T 0.022 0.092 T . . . 0.738 0.164 9.075 0.900 0.187 0.081 0.139 N c -1.207 -1.229 1.000 0.747 0.696 0.573 0 1.26 0.204 -0.568 0.060 -0.563 0.046 0.000 0.063 0.001 0.043 3.577 0.074 . . . 0.0155 0.0049 0.0059 0.0085 0.0001 0.0287 0.0231 0.0148 0.0051 0.0156 0.0045 0.0072 0.0099 0 0.0258 0.0219 0.0163 het 2096.83 157 5 179229032 . G A 2096.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.018;DP=157;Dels=0.00;FS=0.592;HRun=1;HaplotypeScore=3.3992;MQ=58.91;MQ0=0;MQRankSum=0.511;QD=13.36;ReadPosRankSum=-1.161;VQSLOD=5.8902;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,81:157:99:2127,0,1909 5 179267949 179267949 T C exonic MRNIP nonsynonymous SNV MRNIP:NM_001017987:exon4:c.A295G:p.R99G,MRNIP:NM_016175:exon6:c.A460G:p.R154G 0.85 0.95 0.85 0.9 0.71 0.79 0.7849 0.9254 0.8895 0.9203 0.7682 0.7276 0.7795 0.7765 0.78 0.91 0.71 0.9 0.61 rs248248 COSM4005998;COSM1754223 2(urinary_tract);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.287 0.212 T 0.007 0.295 B 0.005 0.239 B 0.309 0.145 N 1 0.588 P 0 0.065 N 2.02 0.342 T -0.69 0.404 N 0.024 0.024 -1.048 0.150 T 0.000 0.000 T . . . 1.083 0.198 11.12 0.866 0.161 0.089 0.146 N c -1.148 -1.094 1.000 0.489 0.672 0.522 0 1.61 0.226 0.607 0.237 -0.392 0.064 0.323 0.253 0.253 0.228 5.128 0.141 . . . 0.7716 0.9218 0.8758 0.7478 0.9115 0.7606 0.7028 0.7547 0.7648 0.7918 0.9175 0.8505 0.7550 0.9124 0.7494 0.7156 0.7495 het 264.89 23 5 179267949 . T C 264.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.569;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=58.99;MQ0=0;MQRankSum=0.215;QD=11.52;ReadPosRankSum=0.585;VQSLOD=6.8668;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:295,0,249 5 179321458 179321458 C T exonic TBC1D9B nonsynonymous SNV TBC1D9B:NM_015043:exon4:c.G505A:p.V169M,TBC1D9B:NM_198868:exon4:c.G505A:p.V169M 0.0012 . . . 0.006 . 0.0018 0.0002 0 0 0.0152 0.0017 0.0011 6.106e-05 0.0008 0.0002 0.0012 . 0.0082 rs141539662 . . . . . . . . . . . . . 0.066 0.361 T 1.0 0.899 D 1.0 0.971 D 0.000 0.463 D 1 0.810 D 2.2 0.622 M -2.3 0.877 D -2.51 0.545 D 0.748 0.744 0.396 0.890 D 0.654 0.880 D . . . 5.805 0.794 27.1 0.999 0.965 0.984 0.824 D c 0.697 0.686 1.000 0.747 0.732 0.924 0 4.84 0.620 7.830 0.848 0.888 0.391 1.000 0.715 0.995 0.604 18.198 0.897 GRAM domain . . 0.0019 6.536e-05 2.979e-05 0.0003 5.798e-05 0.0133 0.0015 0.0015 3.249e-05 0.0023 0 0 0 0 0.0129 0.0015 0.0041 het 771.61 58 5 179321458 . C T 771.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.879;DP=58;Dels=0.00;FS=4.798;HRun=0;HaplotypeScore=1.9874;MQ=59.68;MQ0=0;MQRankSum=2.497;QD=13.30;ReadPosRankSum=-0.101;VQSLOD=3.4038;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,28:58:99:802,0,893 5 179529124 179529124 G A exonic RASGEF1C synonymous SNV RASGEF1C:NM_175062:exon13:c.C1323T:p.Y441Y 0.83 0.81 0.79 0.8 0.77 0.96 0.7945 0.7992 0.7968 0.7666 0.7060 0.7698 0.7804 0.9403 0.78 0.79 0.78 0.75 0.82 rs7725201 COSM4159817;COSM4159818 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7931 0.7965 0.7927 0.7706 0.7710 0.7035 0.7767 0.7705 0.9398 0.7718 0.8026 0.7959 0.7649 0.7525 0.7127 0.7677 0.7863 hom 2863.59 100 5 179529124 . G A 2863.59 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=2.6670;MQ=59.50;MQ0=0;QD=28.35;VQSLOD=7.6698;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:2897,226,0 5 179729519 179729519 A G exonic GFPT2 synonymous SNV GFPT2:NM_005110:exon18:c.T1908C:p.I636I 0.71 0.7 0.65 0.9 0.66 0.63 0.6553 0.7205 0.7126 0.9157 0.5938 0.6212 0.5767 0.6074 0.65 0.72 0.62 0.77 0.66 rs1035411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6559 0.7186 0.7113 0.6935 0.9144 0.5931 0.6150 0.6313 0.6052 0.6661 0.7152 0.7064 0.7119 0.9266 0.5852 0.6276 0.6263 hom 4956.05 168 5 179729519 . A G 4956.05 Mask AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5655;MQ=59.45;MQ0=0;QD=29.50;VQSLOD=8.9150;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:168:99:4955,412,0 5 179996111 179996111 C T exonic CNOT6 synonymous SNV CNOT6:NM_001303241:exon12:c.C1029T:p.S343S . . . . . . 0.9103 0.7686 0.9473 0.9999 0.8994 0.8970 0.9324 0.9829 0.85 0.77 0.89 0.9 0.84 rs6877400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9134 0.7647 0.9446 0.9328 0.9999 0.8962 0.8933 0.9203 0.9830 0.8725 0.7708 0.9165 0.9139 0.9994 0.9081 0.9031 0.9196 hom 1391.58 41 5 179996111 . C T 1391.58 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.94;VQSLOD=14.0812;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1425,108,0 5 180043388 180043388 G A exonic FLT4 synonymous SNV FLT4:NM_002020:exon23:c.C3198T:p.P1066P,FLT4:NM_182925:exon23:c.C3198T:p.P1066P 0.24 0.16 0.19 0.26 0.28 0.33 0.2700 0.1678 0.1680 0.2506 0.2338 0.2889 0.2916 0.3525 0.25 0.17 0.29 0.24 0.31 rs1130378 COSM3761170;COSM3761169 1(haematopoietic_and_lymphoid_tissue);14(soft_tissue);1(thyroid);1(large_intestine) Benign not_specified RCV000254508.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2660 0.1682 0.1727 0.3198 0.2466 0.2284 0.2881 0.2931 0.3521 0.2371 0.1658 0.1727 0.3477 0.2395 0.2192 0.2831 0.2485 hom 5013.62 152 5 180043388 . G A 5013.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.481;DP=152;Dels=0.00;FS=3.407;HRun=0;HaplotypeScore=2.9914;MQ=58.88;MQ0=0;MQRankSum=1.687;QD=32.98;ReadPosRankSum=1.003;VQSLOD=4.4709;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,151:152:99:4980,361,0 5 180166461 180166461 C G exonic OR2Y1 nonsynonymous SNV OR2Y1:NM_001001657:exon1:c.G598C:p.V200L 0.92 0.75 0.97 1. 0.98 0.97 0.9681 0.7965 0.9841 0.9999 0.9808 0.9824 0.9736 0.9849 0.92 0.8 0.98 0.86 0.98 rs10464105 . . . . . . . . . . . . . 0.092 0.316 T 0.985 0.592 D 0.765 0.548 P 0.551 0.054 N 1 0.090 P 1.125 0.290 L 8.58 0.002 T -1.62 0.389 N 0.032 0.012 -0.903 0.477 T 0.000 0.000 T . . . 0.352 0.128 6.190 0.963 0.289 0.160 0.190 N c -0.328 -0.537 0.004 0.105 0.487 0.133 0 0.535 0.162 0.103 0.150 -0.133 0.110 0.001 0.137 0.002 0.062 4.712 0.122 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9712 0.7960 0.9832 0.9817 0.9999 0.9796 0.9808 0.9807 0.9835 0.9325 0.8028 0.9749 0.9868 0.9994 0.9788 0.9832 0.9817 hom 7025.05 209 5 180166461 . C G 7025.05 Mask AC=2;AF=1.00;AN=2;DP=209;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5452;MQ=59.20;MQ0=0;QD=33.61;VQSLOD=7.8344;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,209:209:99:7024,557,0 5 180218668 180218668 A G exonic MGAT1 nonsynonymous SNV MGAT1:NM_001114619:exon2:c.T1304C:p.L435P,MGAT1:NM_001114620:exon2:c.T1304C:p.L435P,MGAT1:NM_002406:exon2:c.T1304C:p.L435P,MGAT1:NM_001114617:exon3:c.T1304C:p.L435P,MGAT1:NM_001114618:exon3:c.T1304C:p.L435P 0.73 0.88 0.56 0.55 0.75 0.83 0.7286 0.8528 0.5227 0.5451 0.7763 0.7419 0.7143 0.8197 0.77 0.84 0.73 0.7 0.68 rs634501 COSM449473 2(breast);1(pancreas) . . . . . . . . . . . 0.339 0.127 T 0.0 0.026 B 0.003 0.080 B 0.084 0.207 N 0.995 0.233 P -0.895 0.014 N -1.68 0.829 D 0.42 0.034 N 0.04 0.030 -0.953 0.405 T 0.000 0.000 T . . . -0.070 0.087 1.965 0.517 0.045 0.058 0.116 N c -1.277 -1.135 1.000 0.489 0.707 0.730 0 3.79 0.426 0.596 0.236 -0.216 0.099 0.001 0.137 0.152 0.205 7.073 0.242 Nucleotide-diphospho-sugar transferases ENSG00000131446.11 Cells_Transformed_fibroblasts 0.7141 0.8496 0.5318 0.6512 0.5386 0.7851 0.7412 0.6959 0.8183 0.7624 0.8465 0.5909 0.6391 0.5446 0.7952 0.7416 0.7582 het 846 70 5 180218668 . A G 846 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.945;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9992;MQ=59.67;MQ0=0;MQRankSum=-0.558;QD=12.09;ReadPosRankSum=-0.264;VQSLOD=6.7925;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:876,0,903 5 180338368 180338368 A G exonic BTNL8 nonsynonymous SNV BTNL8:NM_001159707:exon2:c.A79G:p.T27A,BTNL8:NM_001040462:exon3:c.A427G:p.T143A,BTNL8:NM_001159708:exon3:c.A427G:p.T143A,BTNL8:NM_001159709:exon3:c.A52G:p.T18A,BTNL8:NM_024850:exon3:c.A427G:p.T143A 0.43 0.67 0.42 0.35 0.38 0.26 0.3796 0.6442 0.3547 0.3430 0.3869 0.3787 0.3634 0.2522 0.47 0.64 0.38 0.55 0.28 rs2276995 COSM4003478;COSM4003477 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.25 0.184 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.182 P 1.7 0.440 L 3.31 0.063 T -0.21 0.121 N 0.008 0.006 -1.011 0.267 T 0.000 0.000 T . . . -1.737 0.012 0.002 0.400 0.028 0.003 0.016 N c -1.919 -1.988 1.000 0.448 0.554 0.246 0 -5.37 0.025 -0.884 0.042 -1.866 0.006 0.000 0.063 0.000 0.016 6.887 0.232 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000168903.8|ENSG00000168903.8|ENSG00000165810.12|ENSG00000168903.8|ENSG00000113303.7|ENSG00000165810.12|ENSG00000168903.8|ENSG00000168903.8|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000165810.12|ENSG00000168903.8|ENSG00000168903.8|ENSG00000168903.8|ENSG00000165810.12|ENSG00000168903.8|ENSG00000168903.8|ENSG00000168903.8|ENSG00000231228.3|ENSG00000248761.1|ENSG00000168903.8|ENSG00000113303.7|ENSG00000165810.12|ENSG00000168903.8|ENSG00000113303.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3714 0.6368 0.3596 0.2301 0.3418 0.3914 0.3838 0.3755 0.2542 0.4601 0.6260 0.3720 0.2020 0.3423 0.4056 0.4044 0.3806 het 4240.63 250 5 180338368 . A G 4240.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.262;DP=250;DS;Dels=0.00;FS=0.468;HRun=0;HaplotypeScore=3.7724;MQ=58.66;MQ0=0;MQRankSum=-0.158;QD=16.96;ReadPosRankSum=2.291;VQSLOD=4.6677;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,125:250:99:3553,0,3379 5 180374534 180374534 G A exonic BTNL8 synonymous SNV BTNL8:NM_001159707:exon3:c.G348A:p.S116S,BTNL8:NM_001159710:exon3:c.G144A:p.S48S,BTNL8:NM_001040462:exon4:c.G696A:p.S232S,BTNL8:NM_001159708:exon4:c.G696A:p.S232S,BTNL8:NM_001159709:exon4:c.G321A:p.S107S,BTNL8:NM_024850:exon4:c.G696A:p.S232S 0.44 0.66 0.45 0.35 0.4 0.27 0.3970 0.6441 0.3696 0.3427 0.4085 0.4046 0.3767 0.2550 0.49 0.64 0.4 0.54 0.28 rs3733756 COSM1132184;COSM1132185 2(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3888 0.6402 0.3723 0.2446 0.3416 0.4131 0.4102 0.3965 0.2575 0.4765 0.6306 0.3902 0.2248 0.3412 0.4235 0.4284 0.4039 het 3940.96 250 5 180374534 . G A 3940.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.284;DP=250;DS;Dels=0.00;FS=0.469;HRun=0;HaplotypeScore=1.9983;MQ=58.93;MQ0=0;MQRankSum=1.156;QD=15.76;ReadPosRankSum=-0.821;VQSLOD=5.8483;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3314,0,3185 5 180377331 180377331 T C exonic BTNL8 synonymous SNV BTNL8:NM_001159707:exon7:c.T942C:p.Y314Y,BTNL8:NM_001159710:exon7:c.T738C:p.Y246Y,BTNL8:NM_001040462:exon8:c.T1290C:p.Y430Y,BTNL8:NM_001159709:exon8:c.T915C:p.Y305Y 0.25 0.58 0.12 0.12 0.12 0.17 0.1694 0.5529 0.0915 0.1176 0.1247 0.1369 0.1495 0.1560 0.27 0.53 0.14 0.32 0.098 rs2278689 COSM5619353 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1587 0.5532 0.1042 0.0562 0.1209 0.1289 0.1399 0.1371 0.1561 0.2520 0.5377 0.1095 0.0556 0.1210 0.1355 0.1293 0.1462 hom 8284.33 249 5 180377331 . T C 8284.33 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.287;DP=249;DS;Dels=0.00;FS=3.099;HRun=0;HaplotypeScore=4.7578;MQ=58.91;MQ0=0;MQRankSum=-0.716;QD=33.27;ReadPosRankSum=-1.496;VQSLOD=3.2231;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,248:249:99:8249,622,0 5 180377470 180377470 G A exonic BTNL8 nonsynonymous SNV BTNL8:NM_001159707:exon7:c.G1081A:p.A361T,BTNL8:NM_001159710:exon7:c.G877A:p.A293T,BTNL8:NM_001040462:exon8:c.G1429A:p.A477T,BTNL8:NM_001159709:exon8:c.G1054A:p.A352T 0.24 0.56 0.12 0.12 0.11 0.17 0.1683 0.5384 0.0898 0.1167 0.1249 0.1369 0.1643 0.1585 0.26 0.51 0.14 0.3 0.09 rs113820381 COSM3774176 1(kidney) . . . . . . . . . . . 0.907 0.052 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 1.35 0.600 T 0.57 0.054 N 0.011 0.004 -0.939 0.428 T 0.000 0.000 T . . . -1.756 0.012 0.002 0.258 0.012 0.001 0.005 N c -2.050 -2.124 1.000 0.747 0.554 0.246 0 -1.96 0.071 -0.884 0.042 -1.200 0.016 0.000 0.063 0.001 0.043 6.761 0.226 B30.2/SPRY domain|Butyrophylin-like|Concanavalin A-like lectin/glucanase domain|SPRY domain;B30.2/SPRY domain|Butyrophylin-like|Concanavalin A-like lectin/glucanase domain|SPRY-associated;B30.2/SPRY domain|Concanavalin A-like lectin/glucanase domain|SPRY domain ENSG00000113303.7 Stomach 0.1574 0.5352 0.1030 0.0562 0.1201 0.1279 0.1397 0.1368 0.1580 0.2487 0.5213 0.1096 0.0567 0.1222 0.1370 0.1315 0.1405 hom 3968.86 123 5 180377470 . G A 3968.86 Mask AC=2;AF=1.00;AN=2;DP=123;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.27;MQ0=0;QD=32.27;VQSLOD=8.9110;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3968,334,0 5 180472498 180472498 C T exonic BTNL9 synonymous SNV BTNL9:NM_001308245:exon2:c.C9T:p.D3D,BTNL9:NM_152547:exon2:c.C9T:p.D3D 0.5 0.64 0.52 0.39 0.52 0.38 0.4911 0.6172 0.4157 0.3839 0.5109 0.5250 0.4710 0.3780 0.55 0.62 0.52 0.52 0.42 rs28677846 COSM4003485;COSM4003483;COSM4003484 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4832 0.6137 0.4231 0.3934 0.3835 0.5142 0.5283 0.4985 0.3804 0.5391 0.6029 0.4400 0.4067 0.3823 0.5172 0.5349 0.5010 hom 3741.07 123 5 180472498 . C T 3741.07 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6970;MQ=58.90;MQ0=0;QD=30.42;VQSLOD=7.8661;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3740,307,0 5 180472513 180472513 A G exonic BTNL9 synonymous SNV BTNL9:NM_001308245:exon2:c.A24G:p.P8P,BTNL9:NM_152547:exon2:c.A24G:p.P8P 0.51 0.66 0.52 0.39 0.52 0.39 0.4941 0.6367 0.4185 0.3853 0.5101 0.5253 0.4722 0.3841 0.56 0.64 0.52 0.52 0.43 rs6894087 COSM4003486;COSM4003488;COSM4003487 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4858 0.6328 0.4250 0.4004 0.3842 0.5145 0.5283 0.5007 0.3862 0.5446 0.6224 0.4411 0.4133 0.3814 0.5166 0.5352 0.5 hom 4168.91 140 5 180472513 . A G 4168.91 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5388;MQ=59.07;MQ0=0;QD=29.78;VQSLOD=8.7578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4168,349,0 5 180486785 180486785 G C exonic BTNL9 nonsynonymous SNV BTNL9:NM_152547:exon11:c.G1531C:p.G511R 0.77 0.89 0.64 0.73 0.65 0.85 0.7113 0.8689 0.6917 0.7207 0.6388 0.6615 0.7443 0.8367 0.73 0.86 0.66 0.64 0.55 rs10068763 COSM3947353;COSM3947354 1(lung);1(thyroid) . . . . . . . . . . . 0.632 0.051 T 0.0 0.026 B 0.0 0.013 B 0.263 0.037 N 1 0.090 P -0.805 0.016 N 1.09 0.392 T 1.04 0.013 N 0.049 0.031 -1.026 0.218 T 0.000 0.000 T . . . -1.773 0.011 0.002 0.411 0.029 0.001 0.006 N c -2.439 -2.517 1.000 0.747 0.625 0.396 0 -9.09 0.006 -3.799 0.004 -4.608 0.000 0.000 0.063 0.000 0.016 2.607 0.045 . ENSG00000168903.8|ENSG00000113303.7|ENSG00000165810.12|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000165810.12|ENSG00000168903.8|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000165810.12|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000113303.7|ENSG00000168903.8|ENSG00000168903.8|ENSG00000113303.7|ENSG00000248761.1|ENSG00000168903.8|ENSG00000113303.7|ENSG00000165810.12|ENSG00000168903.8|ENSG00000113303.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Breast_Mammary_Tissue|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.7005 0.8722 0.6912 0.7835 0.7198 0.6163 0.6476 0.6753 0.8319 0.7085 0.8742 0.6838 0.8079 0.7270 0.6151 0.6345 0.6633 hom 884.10 32 5 180486785 . G C 884.10 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.63;VQSLOD=12.6137;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.20:917,81,0 5 180582604 180582604 A G exonic OR2V2 nonsynonymous SNV OR2V2:NM_206880:exon1:c.A662G:p.H221R 0.66 0.81 0.75 0.57 0.54 0.6 0.5922 0.7818 0.7751 0.5639 0.5584 0.5278 0.6013 0.6331 0.62 0.78 0.53 0.65 0.47 rs2546423 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.496 0.120 N 1 0.090 P -0.355 0.031 N 8.78 0.001 T 1.69 0.006 N 0.017 0.003 -0.940 0.426 T 0.000 0.000 T . . . -2.495 0.003 0.001 0.087 0.001 0.003 0.015 N c -1.587 -1.580 0.916 0.265 0.497 0.185 0 0.494 0.160 -3.293 0.006 -1.861 0.006 0.000 0.063 0.000 0.016 7.533 0.267 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5975 0.7881 0.7609 0.5281 0.5551 0.5514 0.5334 0.5979 0.6364 0.6131 0.7872 0.7100 0.5430 0.5458 0.5527 0.5317 0.5746 het 2874.93 245 5 180582604 . A G 2874.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.591;DP=245;DS;Dels=0.00;FS=1.017;HRun=0;HaplotypeScore=3.5301;MQ=59.33;MQ0=0;MQRankSum=0.756;QD=11.73;ReadPosRankSum=-1.387;VQSLOD=6.1496;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:133,111:245:99:2905,0,3583 5 180687212 180687212 C T exonic TRIM52 synonymous SNV TRIM52:NM_001346048:exon1:c.G603A:p.L201L,TRIM52:NM_001346049:exon1:c.G603A:p.L201L,TRIM52:NM_001346050:exon1:c.G603A:p.L201L,TRIM52:NM_001346051:exon1:c.G603A:p.L201L,TRIM52:NM_032765:exon1:c.G603A:p.L201L 0.2 0.3 0.19 0.067 0.23 0.17 0.2054 0.2966 0.1501 0.0502 0.1966 0.2228 0.2201 0.2005 0.25 0.28 0.23 0.18 0.23 rs918388 COSM3761181 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2022 0.2921 0.1595 0.2218 0.0532 0.2002 0.2240 0.2092 0.2024 0.2337 0.2998 0.1802 0.2152 0.0532 0.2042 0.2270 0.2020 het 2113.03 167 5 180687212 . C T 2113.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.275;DP=167;Dels=0.00;FS=6.694;HRun=0;HaplotypeScore=9.4895;MQ=58.68;MQ0=0;MQRankSum=1.800;QD=12.65;ReadPosRankSum=0.381;VQSLOD=3.8716;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,77:167:99:2143,0,2658 5 180687429 180687431 TCT - exonic TRIM52 nonframeshift deletion TRIM52:NM_001346048:exon1:c.384_386del:p.E130del,TRIM52:NM_001346049:exon1:c.384_386del:p.E130del,TRIM52:NM_001346050:exon1:c.384_386del:p.E130del,TRIM52:NM_001346051:exon1:c.384_386del:p.E130del,TRIM52:NM_032765:exon1:c.384_386del:p.E130del 0.49 0.92 0.3 0.34 0.28 0.43 0.3529 0.8217 0.2801 0.3517 0.2817 0.2833 0.3678 0.4185 0.46 0.81 0.28 . . rs33972170 COSM4589993 13(upper_aerodigestive_tract);1(large_intestine);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3399 0.8277 0.2811 0.3904 0.3541 0.2796 0.2758 0.3316 0.4152 0.4326 0.8191 0.3106 0.3933 0.3522 0.2792 0.2699 0.3094 het 4284.42 247 5 180687428 . CTCT C 4284.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=12.232;DP=247;DS;FS=0.512;HRun=0;HaplotypeScore=956.2859;MQ=59.35;MQ0=0;MQRankSum=1.541;QD=17.35;ReadPosRankSum=0.441;set=variant2 GT:AD:DP:GQ:PL 0/1:132,115:247:99:4284,0,5479 6 311938 311938 C T exonic DUSP22 synonymous SNV DUSP22:NM_001286555:exon3:c.C114T:p.H38H,DUSP22:NM_020185:exon3:c.C114T:p.H38H 0.037 0.0045 0.081 . 0.11 0.012 0.0734 0.0183 0.0499 0.0006 0.1082 0.1057 0.0785 0.0184 0.084 0.025 0.11 0.043 0.049 rs11242786 COSM6019157 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0554 0.0131 0.0338 0.0557 0.0006 0.0906 0.0825 0.0599 0.0116 0.0706 0.0172 0.0534 0.0738 0.0018 0.0950 0.1049 0.0768 het 591.27 128 6 311938 . C T 591.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.097;DP=128;Dels=0.00;FS=2.751;HRun=0;HaplotypeScore=5.5375;MQ=58.52;MQ0=0;MQRankSum=0.419;QD=4.62;ReadPosRankSum=1.493;VQSLOD=2.8347;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:98,30:128:99:621,0,2383 6 656143 656143 C A exonic HUS1B nonsynonymous SNV HUS1B:NM_148959:exon1:c.G802T:p.D268Y 0.74 0.43 0.87 0.86 0.9 0.78 0.8489 0.4880 0.9216 0.8378 0.9258 0.8975 0.8579 0.8032 0.76 0.49 0.9 0.62 0.9 rs1211554 . . . . . . . . . . . . . 0.001 0.784 D 0.664 0.391 P 0.331 0.403 B 0.000 0.504 U 0.004 0.548 P 2.425 0.705 M 2.55 0.138 T -4.52 0.783 D 0.274 0.332 -1.016 0.248 T 0.012 0.047 T . . . 4.550 0.609 24.4 0.985 0.423 0.722 0.351 D c -0.500 -0.617 0.785 0.239 0.615 0.372 0 -0.327 0.120 1.075 0.301 -0.008 0.133 0.683 0.282 0.833 0.348 3.142 0.060 . ENSG00000272463.1|ENSG00000112685.9|ENSG00000272463.1|ENSG00000272463.1|ENSG00000112685.9 Artery_Coronary|Artery_Tibial|Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial 0.8604 0.4799 0.9155 0.8517 0.8434 0.9252 0.9024 0.8557 0.8037 0.7831 0.4910 0.9141 0.8676 0.8397 0.9229 0.9000 0.8523 het 1706.45 128 6 656143 . C A 1706.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.474;DP=128;Dels=0.00;FS=0.752;HRun=0;HaplotypeScore=1.8924;MQ=59.16;MQ0=0;MQRankSum=0.165;QD=13.33;ReadPosRankSum=0.528;VQSLOD=6.8035;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,68:128:99:1736,0,1574 6 656343 656343 T C exonic HUS1B nonsynonymous SNV HUS1B:NM_148959:exon1:c.A602G:p.Q201R 0.12 0.076 0.082 0.14 0.083 0.21 0.0978 0.0805 0.0548 0.1650 0.0576 0.0800 0.1203 0.1902 0.082 0.091 0.078 0.16 0.074 rs17136239 . . . . . . . . . . . . . 0.039 0.424 D 0.0 0.026 B 0.0 0.013 B 0.312 0.144 N 1 0.090 P -0.345 0.033 N 2.8 0.111 T -0.15 0.093 N 0.019 0.004 -0.905 0.474 T 0.004 0.012 T . . . 0.023 0.096 2.809 0.641 0.072 0.060 0.118 N c -1.486 -1.548 0.999 0.384 0.560 0.301 0 -7.2 0.013 0.793 0.264 0.964 0.580 0.327 0.253 0.503 0.271 9.204 0.363 . ENSG00000272463.1 Artery_Coronary 0.0950 0.0822 0.0570 0.1341 0.1587 0.0575 0.0759 0.1088 0.1890 0.0839 0.0882 0.0585 0.1258 0.1628 0.0615 0.0772 0.1045 het 2706.91 212 6 656343 . T C 2706.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.768;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2023;MQ=59.32;MQ0=0;MQRankSum=0.582;QD=12.77;ReadPosRankSum=1.223;VQSLOD=5.4539;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,104:212:99:2737,0,2952 6 1742794 1742794 A G exonic GMDS synonymous SNV GMDS:NM_001253846:exon8:c.T708C:p.D236D,GMDS:NM_001500:exon8:c.T798C:p.D266D 0.49 0.29 0.47 0.66 0.49 0.58 0.4831 0.3092 0.4261 0.6493 0.5808 0.4655 0.5143 0.5762 0.41 0.31 0.45 0.43 0.37 rs3734739 COSM3761701 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4817 0.3063 0.4206 0.4531 0.6512 0.5691 0.4579 0.4750 0.5746 0.4241 0.3008 0.3998 0.4238 0.6615 0.5564 0.4396 0.4435 het 1435.04 151 6 1742794 . A G 1435.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.259;DP=151;Dels=0.00;FS=0.610;HRun=0;HaplotypeScore=2.6493;MQ=59.04;MQ0=0;MQRankSum=1.360;QD=9.50;ReadPosRankSum=0.255;VQSLOD=6.4271;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,63:151:99:1465,0,2422 6 2749381 2749381 C T exonic MYLK4 nonsynonymous SNV MYLK4:NM_001012418:exon2:c.G148A:p.G50R,MYLK4:NM_001347872:exon2:c.G316A:p.G106R 0.16 0.033 0.27 0.32 0.12 0.12 0.1558 0.0516 0.3016 0.3115 0.1360 0.1297 0.1471 0.1511 0.11 0.061 0.14 0.11 0.11 rs2296356 COSM4003843;COSM4003844;COSM4003845 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.01 0.564 D 0.017 0.163 B 0.008 0.127 B . . . 0.941 0.268 P 1.525 0.387 L -0.22 0.665 T -1.1 0.285 N 0.113 0.534 -1.069 0.096 T 0.075 0.301 T . . . 2.923 0.412 21.9 0.967 0.301 0.591 0.306 D c -0.815 -0.715 0.998 0.364 0.554 0.283 0 4.79 0.608 2.925 0.483 0.065 0.171 0.126 0.231 0.063 0.172 13.894 0.631 . . . 0.1635 0.0507 0.2929 0.1123 0.3158 0.1317 0.1328 0.1503 0.1461 0.1243 0.0552 0.2900 0.0861 0.3106 0.1216 0.1358 0.1354 het 1236.97 118 6 2749381 . C T 1236.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.611;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9448;MQ=58.80;MQ0=0;MQRankSum=0.014;QD=10.48;ReadPosRankSum=0.771;VQSLOD=6.4103;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,50:118:99:1267,0,1819 6 2955802 2955802 T C exonic SERPINB6 nonsynonymous SNV SERPINB6:NM_001271822:exon3:c.A310G:p.M104V,SERPINB6:NM_001271823:exon3:c.A325G:p.M109V,SERPINB6:NM_001271824:exon3:c.A268G:p.M90V,SERPINB6:NM_001271825:exon3:c.A268G:p.M90V,SERPINB6:NM_001297699:exon3:c.A268G:p.M90V,SERPINB6:NM_001297700:exon3:c.A268G:p.M90V,SERPINB6:NM_004568:exon3:c.A268G:p.M90V,SERPINB6:NM_001195291:exon4:c.A280G:p.M94V 0.21 0.029 0.25 0.27 0.3 0.29 0.2645 0.0637 0.1980 0.2634 0.2389 0.2978 0.2583 0.3138 0.22 0.066 0.3 0.17 0.3 rs2295769 COSM4160492 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000037108.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.004 0.093 B 0.040 0.241 N 1 0.090 P 0.67 0.164 N -1.79 0.838 D 0.35 0.038 N 0.063 0.320 -1.064 0.109 T 0.103 0.379 T . . . -0.718 0.044 0.066 0.393 0.027 0.237 0.220 N c -1.024 -0.932 0.999 0.380 0.707 0.730 0 3.8 0.427 2.232 0.424 1.061 0.807 0.033 0.204 0.018 0.130 9.206 0.363 Serpin domain ENSG00000224846.1|ENSG00000124570.13|ENSG00000224846.1|ENSG00000124570.13|ENSG00000124588.15|ENSG00000224846.1|ENSG00000224846.1 Brain_Cerebellum|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.2660 0.0611 0.2122 0.3283 0.2618 0.2363 0.2980 0.2885 0.3107 0.2238 0.0704 0.2165 0.3146 0.2679 0.2437 0.2988 0.2796 het 1695.29 126 6 2955802 . T C 1695.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.722;DP=126;Dels=0.00;FS=1.421;HRun=2;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=0.500;QD=13.45;ReadPosRankSum=0.666;VQSLOD=6.0659;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,62:126:99:1725,0,1655 6 2959513 2959513 C T exonic SERPINB6 synonymous SNV SERPINB6:NM_001271822:exon2:c.G96A:p.T32T,SERPINB6:NM_001271823:exon2:c.G111A:p.T37T,SERPINB6:NM_001271824:exon2:c.G54A:p.T18T,SERPINB6:NM_001271825:exon2:c.G54A:p.T18T,SERPINB6:NM_001297699:exon2:c.G54A:p.T18T,SERPINB6:NM_001297700:exon2:c.G54A:p.T18T,SERPINB6:NM_004568:exon2:c.G54A:p.T18T,SERPINB6:NM_001195291:exon3:c.G66A:p.T22T 0.34 0.15 0.45 0.48 0.34 0.37 0.3410 0.1792 0.5187 0.4973 0.2775 0.3235 0.3216 0.3339 0.27 0.18 0.32 0.34 0.25 rs2236277 COSM150035 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) Benign not_specified RCV000037111.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3485 0.1734 0.4957 0.3793 0.5006 0.2784 0.3197 0.3449 0.3357 0.2920 0.1850 0.4773 0.3642 0.5043 0.2826 0.3193 0.3276 het 2300.56 194 6 2959513 . C T 2300.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.333;DP=194;Dels=0.00;FS=0.537;HRun=0;HaplotypeScore=5.6109;MQ=59.30;MQ0=0;MQRankSum=-1.109;QD=11.86;ReadPosRankSum=-0.505;VQSLOD=4.8694;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,89:194:99:2331,0,2761 6 3010390 3010390 C T exonic NQO2 nonsynonymous SNV NQO2:NM_000904:exon3:c.C139T:p.L47F,NQO2:NM_001290222:exon3:c.C139T:p.L47F,NQO2:NM_001318940:exon3:c.C139T:p.L47F,NQO2:NM_001290221:exon6:c.C139T:p.L47F 0.8 0.98 0.77 0.66 0.79 0.72 0.7906 0.9621 0.7863 0.6522 0.8741 0.7870 0.7930 0.7387 0.84 0.96 0.78 0.85 0.79 rs1143684 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.063 B 0.000 0.843 N 1.000 0.208 P -3.06 0.000 N 3.34 0.061 T 5.21 0.000 N 0.084 0.319 -0.962 0.388 T 0.001 0.003 T . . . 0.872 0.177 9.900 0.187 0.006 0.052 0.109 N c -1.065 -0.706 1.000 0.747 0.732 0.924 0 5.63 0.861 5.016 0.636 0.154 0.240 1.000 0.715 0.926 0.400 9.689 0.391 Flavodoxin-like fold|Flavoprotein-like domain ENSG00000124588.15|ENSG00000224846.1|ENSG00000124588.15|ENSG00000124588.15|ENSG00000124588.15|ENSG00000224846.1|ENSG00000124588.15|ENSG00000224846.1|ENSG00000124588.15|ENSG00000124588.15|ENSG00000271361.1|ENSG00000124588.15|ENSG00000224846.1|ENSG00000124588.15|ENSG00000224846.1|ENSG00000124588.15|ENSG00000124588.15|ENSG00000224846.1|ENSG00000124588.15|ENSG00000124588.15|ENSG00000224846.1|ENSG00000124588.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.7869 0.9636 0.7844 0.7063 0.6531 0.8732 0.7881 0.7805 0.7366 0.8502 0.9564 0.7614 0.7185 0.6640 0.8832 0.8099 0.8245 hom 2475.38 79 6 3010390 . C T 2475.38 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=31.33;VQSLOD=9.3567;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2508,196,0 6 3012778 3012778 G A exonic NQO2 nonsynonymous SNV NQO2:NM_000904:exon4:c.G173A:p.G58D,NQO2:NM_001290222:exon4:c.G173A:p.G58D,NQO2:NM_001318940:exon4:c.G173A:p.G58D,NQO2:NM_001290221:exon7:c.G173A:p.G58D 0.018 0.0015 0.01 . 0.027 0.054 0.0294 0.0047 0.0088 0.0006 0.0292 0.0336 0.0407 0.0574 0.021 0.0043 0.03 . 0.033 rs17300141 . . . . . . . . . . . . . 0.032 0.721 D 0.0 0.899 B 0.006 0.732 B 0.000 0.843 D 0.997 0.433 D 2.37 0.685 M 2.94 0.098 T -5.94 0.891 D 0.188 0.438 -0.929 0.443 T 0.079 0.314 T . . . 1.052 0.195 10.95 0.993 0.567 0.974 0.743 D c -0.131 -0.200 1.000 0.747 0.732 0.924 0 4.48 0.538 4.422 0.594 0.128 0.215 1.000 0.715 0.109 0.192 17.652 0.880 Flavodoxin-like fold|Flavoprotein-like domain . . 0.0281 0.0041 0.0090 0.0381 0.0003 0.0307 0.0321 0.0283 0.0569 0.0247 0.0037 0.0072 0.0563 0.0006 0.0315 0.0369 0.0450 het 1652.47 121 6 3012778 . G A 1652.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.572;DP=121;Dels=0.00;FS=3.335;HRun=0;HaplotypeScore=2.5803;MQ=59.35;MQ0=0;MQRankSum=1.610;QD=13.66;ReadPosRankSum=-1.200;VQSLOD=5.9238;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,62:121:99:1682,0,1544 6 3015790 3015790 A G exonic NQO2 synonymous SNV NQO2:NM_000904:exon5:c.A330G:p.P110P,NQO2:NM_001318940:exon5:c.A330G:p.P110P,NQO2:NM_001290221:exon8:c.A330G:p.P110P 0.76 0.93 0.73 0.65 0.71 0.69 0.7283 0.9041 0.7472 0.6536 0.7391 0.7136 0.7046 0.7001 0.78 0.9 0.72 0.81 0.75 rs1049115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7255 0.9055 0.7426 0.6417 0.6536 0.7395 0.7199 0.7058 0.6986 0.7831 0.9032 0.7184 0.6689 0.6623 0.7536 0.7417 0.7418 het 432.56 60 6 3015790 . A G 432.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.426;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=59.62;MQ0=0;MQRankSum=-0.839;QD=7.21;ReadPosRankSum=0.353;VQSLOD=5.6108;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,20:60:99:463,0,1163 6 3077141 3077141 T C exonic RIPK1 synonymous SNV RIPK1:NM_003804:exon2:c.T84C:p.F28F 0.85 0.79 0.9 0.73 0.93 0.93 0.9148 0.8119 0.8483 0.7278 0.8984 0.9618 0.9229 0.9402 0.91 0.82 0.96 0.81 0.96 rs2272990 . . . . . . . Preschool internalizing problems . -0.39 24839885 rs2272990 5E-7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9141 0.8130 0.8594 0.9824 0.7248 0.9010 0.9615 0.9336 0.9423 0.9007 0.8222 0.8672 0.9868 0.7046 0.9095 0.9630 0.9357 hom 2433.21 80 6 3077141 . T C 2433.21 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=30.42;VQSLOD=9.3173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2466,208,0 6 3287118 3287118 T C exonic SLC22A23 synonymous SNV SLC22A23:NM_001286455:exon7:c.A678G:p.S226S,SLC22A23:NM_015482:exon7:c.A1521G:p.S507S,SLC22A23:NM_021945:exon8:c.A678G:p.S226S 0.86 0.98 0.88 0.68 0.95 0.78 0.9034 0.9695 0.8622 0.7262 0.9508 0.9374 0.8992 0.8266 0.95 0.97 0.94 0.91 0.43 rs6910086 COSM4161047;COSM4161046 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8969 0.9685 0.8652 0.9211 0.6991 0.9571 0.9350 0.9110 0.8204 0.9347 0.9648 0.8648 0.9470 0.7029 0.9579 0.9397 0.9440 hom 999 29 6 3287118 . T C 999 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.45;VQSLOD=13.8488;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:84.24:1032,84,0 6 3727811 3727811 C G exonic PXDC1 nonsynonymous SNV PXDC1:NM_183373:exon4:c.G552C:p.Q184H 0.65 0.68 0.57 0.61 0.66 0.69 0.6599 0.6577 0.6169 0.6022 0.7022 0.6652 0.6553 0.6838 0.66 0.65 0.66 0.69 0.63 rs226959 COSM4004032 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.294 0.148 T 0.0 0.026 B 0.0 0.013 B 0.000 0.441 N 1.000 0.090 P -0.695 0.019 N 1.59 0.288 T 2.33 0.003 N 0.016 0.271 -0.955 0.400 T 0.008 0.028 T . . . 2.368 0.346 18.61 0.981 0.378 0.234 0.219 N c -0.434 -0.294 1.000 0.489 0.632 0.406 0 4.51 0.544 0.975 0.288 0.136 0.221 1.000 0.715 0.913 0.390 4.717 0.122 . ENSG00000228793.1|ENSG00000228793.1|ENSG00000228793.1|ENSG00000228793.1 Brain_Cortex|Brain_Hippocampus|Lung|Thyroid 0.6591 0.6632 0.6177 0.7058 0.6067 0.6954 0.6628 0.6466 0.6790 0.6698 0.6686 0.6492 0.7119 0.5825 0.6953 0.6738 0.6765 hom 3410.53 107 6 3727811 . C G 3410.53 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.43;MQ0=0;QD=31.87;VQSLOD=9.3079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3410,262,0 6 4069166 4069166 C T exonic FAM217A nonsynonymous SNV FAM217A:NM_173563:exon7:c.G1291A:p.V431I 0.55 0.14 0.63 0.65 0.74 0.73 0.6793 0.2029 0.6294 0.6245 0.7288 0.7487 0.6938 0.7405 0.56 0.22 0.74 0.55 0.68 rs595413 COSM4004038 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.217 0.191 T 0.319 0.312 B 0.069 0.263 B 0.526 0.117 N 1.000 0.186 P 1.495 0.376 L 2.03 0.210 T -0.44 0.146 N 0.012 0.123 -0.992 0.321 T 0.015 0.060 T . . . 0.446 0.137 7.007 0.855 0.154 0.111 0.162 N c -0.730 -0.798 0.925 0.268 0.487 0.133 0 0.752 0.175 0.279 0.184 0.892 0.403 0.059 0.215 0.931 0.405 4.962 0.133 . . . 0.6877 0.1938 0.6312 0.7930 0.6287 0.7315 0.7462 0.7339 0.7420 0.5801 0.1991 0.6492 0.7815 0.6382 0.7308 0.7439 0.7065 het 1554.32 131 6 4069166 . C T 1554.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.339;DP=131;Dels=0.00;FS=0.661;HRun=0;HaplotypeScore=0.8667;MQ=59.22;MQ0=0;MQRankSum=-0.510;QD=11.87;ReadPosRankSum=-1.340;VQSLOD=6.3421;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,61:131:99:1584,0,1797 6 4087949 4087949 A T exonic C6orf201 nonsynonymous SNV C6orf201:NM_001085401:exon2:c.A74T:p.D25V 0.047 0.079 0.022 0.001 0.063 0.054 0.0581 0.0794 0.0159 0.0007 0.0748 0.0698 0.0725 0.0502 0.07 0.077 0.066 0.065 0.074 rs13200786 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.998 0.875 D 0.000 0.449 D 0.999 0.537 D 1.32 0.331 L 1.32 0.352 T -7.77 0.958 D 0.394 0.453 -1.034 0.193 T 0.078 0.311 T . . . 4.380 0.586 24.1 0.991 0.515 0.771 0.376 D c 0.125 0.019 0.001 0.086 0.581 0.330 0 3.07 0.343 3.588 0.535 1.194 0.916 0.993 0.376 0.905 0.384 7.774 0.280 . ENSG00000198721.8 Esophagus_Muscularis 0.0550 0.0789 0.0203 0.0395 0.0003 0.0713 0.0702 0.0480 0.0506 0.0703 0.0801 0.0143 0.0331 0.0012 0.0744 0.0757 0.0601 het 4210.18 239 6 4087949 . A T 4210.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.742;DP=239;DS;Dels=0.00;FS=1.188;HRun=0;HaplotypeScore=3.5918;MQ=59.26;MQ0=0;MQRankSum=0.439;QD=17.62;ReadPosRankSum=0.217;VQSLOD=5.1462;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:107,132:239:99:3586,0,2721 6 4996543 4996543 C T exonic RPP40 nonsynonymous SNV RPP40:NM_001286132:exon5:c.G602A:p.S201N,RPP40:NM_001286133:exon5:c.G545A:p.S182N,RPP40:NM_006638:exon6:c.G671A:p.S224N 0.046 0.067 0.036 0.039 0.028 0.053 0.0343 0.0708 0.0181 0.0321 0.0212 0.0291 0.0297 0.0502 0.044 0.065 0.034 0.043 0.0082 rs62385118 . . . . . . . . . . . . . 0.116 0.289 T 0.016 0.226 B 0.016 0.212 B 0.000 0.843 D 0.986 0.403 D 1.79 0.469 L 0.94 0.437 T -0.55 0.168 N 0.106 0.324 -1.022 0.230 T 0.070 0.286 T . . . 1.559 0.249 13.63 0.974 0.334 0.872 0.464 D c -0.415 -0.340 0.995 0.337 0.732 0.924 0 4.45 0.532 2.224 0.423 0.935 0.490 0.963 0.335 0.386 0.252 14.398 0.664 . . . 0.0329 0.0726 0.0176 0.0391 0.0331 0.0221 0.0287 0.0295 0.0513 0.0395 0.0739 0.0227 0.0397 0.0327 0.0215 0.0261 0.0285 het 1022.35 75 6 4996543 . C T 1022.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.071;DP=75;Dels=0.00;FS=3.132;HRun=1;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=1.934;QD=13.63;ReadPosRankSum=-1.563;VQSLOD=4.7450;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,37:75:99:1052,0,1184 6 4998963 4998963 A G exonic RPP40 synonymous SNV RPP40:NM_001286132:exon4:c.T477C:p.A159A,RPP40:NM_006638:exon5:c.T546C:p.A182A 0.34 0.52 0.32 0.17 0.28 0.36 0.3242 0.5052 0.3556 0.1691 0.2850 0.3098 0.3084 0.3395 0.34 0.48 0.26 0.45 0.082 rs1749144 COSM3762123 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2801 0.4929 0.3185 0.2897 0.1479 0.2699 0.2559 0.2778 0.3149 0.3244 0.4861 0.2938 0.2616 0.1539 0.2771 0.2659 0.2749 het 341.95 29 6 4998963 . A G 341.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.820;DP=29;Dels=0.00;FS=3.352;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.241;QD=11.79;ReadPosRankSum=0.153;VQSLOD=6.4876;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,13:29:99:372,0,391 6 6152137 6152137 C G exonic F13A1 nonsynonymous SNV F13A1:NM_000129:exon14:c.G1954C:p.E652Q 0.19 0.23 0.2 0.092 0.24 0.2 0.2087 0.2075 0.2013 0.1002 0.1849 0.2266 0.1949 0.2091 0.22 0.2 0.23 0.18 0.29 rs5988 COSM4417577 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign|Likely benign not_specified|Factor_xiii\x2c_a_subunit\x2c_deficiency_of RCV000244287.1|RCV000390947.1 MedGen|MedGen:OMIM CN169374|C2750514:613225 . . . . . . 0.304 0.143 T . . . . . . 0.000 0.843 D 0.000 0.497 P . . . -0.35 0.686 T -1.13 0.291 N 0.137 0.159 -0.892 0.488 T 0.153 0.483 T . . . 2.220 0.328 17.64 0.997 0.825 0.895 0.497 D c 0.121 0.163 0.819 0.245 0.638 0.428 0 4.5 0.542 4.734 0.615 0.935 0.490 1.000 0.715 1.000 0.888 13.337 0.598 Immunoglobulin-like fold|Transglutaminase\x2c C-terminal . . 0.2095 0.2070 0.2041 0.2783 0.0981 0.1821 0.2273 0.2152 0.2114 0.2070 0.2023 0.2196 0.25 0.1101 0.1849 0.2246 0.1925 hom 3428.83 109 6 6152137 . C G 3428.83 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.812;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6452;MQ=59.43;MQ0=0;MQRankSum=1.356;QD=31.46;ReadPosRankSum=0.125;VQSLOD=8.0076;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,107:109:99:3384,223,0 6 6152140 6152140 C T exonic F13A1 nonsynonymous SNV F13A1:NM_000129:exon14:c.G1951A:p.V651I 0.072 0.034 0.05 0.09 0.075 0.12 0.0676 0.0360 0.0469 0.0991 0.0638 0.0597 0.0496 0.1198 0.05 0.03 0.059 0.098 0.066 rs5987 COSM4416952 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Factor_xiii\x2c_a_subunit\x2c_deficiency_of RCV000252406.1|RCV000297230.1 MedGen|MedGen:OMIM CN169374|C2750514:613225 . . . . . . 0.87 0.026 T 0.285 0.304 B 0.291 0.390 B 0.000 0.629 D 0.000 0.490 P 1.58 0.399 L -0.54 0.710 T 0.02 0.068 N 0.093 0.092 -1.018 0.244 T 0.118 0.415 T . . . 2.416 0.352 18.93 0.485 0.040 0.483 0.279 N c -0.187 -0.056 0.928 0.269 0.638 0.428 0 5.37 0.769 1.693 0.371 0.935 0.490 0.771 0.291 0.998 0.697 9.927 0.405 Immunoglobulin-like fold|Transglutaminase\x2c C-terminal . . 0.0661 0.0359 0.0463 0.0705 0.0971 0.0595 0.0583 0.0601 0.1181 0.0530 0.0383 0.0632 0.0762 0.1088 0.0592 0.0526 0.0601 het 1574.57 108 6 6152140 . C T 1574.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.085;DP=108;Dels=0.00;FS=6.339;HRun=1;HaplotypeScore=3.6452;MQ=59.42;MQ0=0;MQRankSum=-0.481;QD=14.58;ReadPosRankSum=0.994;VQSLOD=4.5372;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,59:108:99:1605,0,1262 6 6174856 6174856 T C exonic F13A1 synonymous SNV F13A1:NM_000129:exon12:c.A1704G:p.E568E 0.049 0.039 0.073 0.001 0.11 0.03 0.0732 0.0541 0.0429 0 0.0945 0.0950 0.0870 0.0475 0.084 0.054 0.1 0.054 0.14 rs5986 COSM84958 1(pancreas);5(large_intestine) Benign|Likely benign not_specified|Factor_xiii\x2c_a_subunit\x2c_deficiency_of RCV000247654.1|RCV000302214.1 MedGen|MedGen:OMIM CN169374|C2750514:613225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0723 0.0536 0.0479 0.0793 0 0.0888 0.0948 0.0848 0.0503 0.0736 0.0550 0.0537 0.0861 0.0006 0.0867 0.0905 0.0682 het 2986.39 211 6 6174856 . T C 2986.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.970;DP=211;DS;Dels=0.00;FS=2.420;HRun=0;HaplotypeScore=1.9989;MQ=59.19;MQ0=0;MQRankSum=0.883;QD=14.15;ReadPosRankSum=-0.236;VQSLOD=6.3758;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:104,107:211:99:3016,0,2876 6 6222382 6222382 T G exonic F13A1 synonymous SNV F13A1:NM_000129:exon8:c.A996C:p.P332P 0.093 0.052 0.12 0.006 0.18 0.13 0.1539 0.0826 0.1222 0.0021 0.1917 0.1908 0.1498 0.1358 0.16 0.079 0.2 0.098 0.22 rs5981 COSM5021490 1(bone) Benign|Likely benign not_specified|Factor_xiii\x2c_a_subunit\x2c_deficiency_of RCV000249062.1|RCV000326873.1 MedGen|MedGen:OMIM CN169374|C2750514:613225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1549 0.0815 0.1249 0.1800 0.0022 0.1868 0.1949 0.1517 0.1342 0.1547 0.0862 0.1265 0.1391 0.0025 0.1870 0.2045 0.1704 hom 2596.96 86 6 6222382 . T G 2596.96 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8653;MQ=59.19;MQ0=0;QD=30.20;VQSLOD=8.8057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:86:99:2630,208,0 6 7211818 7211818 G A exonic RREB1 nonsynonymous SNV RREB1:NM_001003698:exon8:c.G583A:p.G195R,RREB1:NM_001003699:exon8:c.G583A:p.G195R,RREB1:NM_001003700:exon8:c.G583A:p.G195R,RREB1:NM_001168344:exon8:c.G583A:p.G195R 0.46 0.32 0.43 0.53 0.41 0.64 0.4469 0.3360 0.5012 0.5401 0.5054 0.4058 0.4493 0.5725 0.38 0.33 0.4 0.37 0.36 rs1334576 COSM3762172;COSM3762171 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.131 0.266 T 0.997 0.715 D 0.859 0.594 P 0.257 0.154 N 1 0.090 P 1.59 0.404 L 2.9 0.113 T -2.06 0.471 N 0.123 0.138 -1.018 0.245 T 0.019 0.078 T . . . 1.369 0.228 12.63 0.966 0.298 0.152 0.186 N c -0.280 -0.379 0.188 0.180 0.707 0.730 0 2.93 0.329 1.223 0.319 1.048 0.713 0.690 0.283 0.917 0.393 1.897 0.030 . . . 0.4494 0.3364 0.4872 0.3298 0.5441 0.5062 0.4063 0.4182 0.5704 0.4230 0.3505 0.4486 0.3046 0.5932 0.5074 0.4243 0.4806 hom 3669.78 125 6 7211818 . G A 3669.78 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=58.33;MQ0=0;QD=29.36;VQSLOD=8.4891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3669,280,0 6 7229346 7229346 T C exonic RREB1 synonymous SNV RREB1:NM_001003698:exon10:c.T1014C:p.H338H,RREB1:NM_001003699:exon10:c.T1014C:p.H338H,RREB1:NM_001003700:exon10:c.T1014C:p.H338H,RREB1:NM_001168344:exon10:c.T1014C:p.H338H 0.41 0.79 0.21 0.27 0.34 0.24 0.3274 0.7121 0.1386 0.2562 0.3799 0.3275 0.2844 0.2309 0.44 0.69 0.31 0.47 0.23 rs2714315 COSM3723433;COSM3723434 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3092 0.7125 0.1508 0.3071 0.2590 0.3767 0.3214 0.2945 0.2203 0.4249 0.6945 0.2005 0.3278 0.2466 0.3853 0.3171 0.3368 hom 1691.43 53 6 7229346 . T C 1691.43 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3123;MQ=58.24;MQ0=0;QD=31.91;VQSLOD=9.2324;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1724,150,0 6 7229619 7229619 G A exonic RREB1 synonymous SNV RREB1:NM_001003698:exon10:c.G1287A:p.A429A,RREB1:NM_001003699:exon10:c.G1287A:p.A429A,RREB1:NM_001003700:exon10:c.G1287A:p.A429A,RREB1:NM_001168344:exon10:c.G1287A:p.A429A 0.2 0.34 0.17 0.042 0.31 0.11 0.2394 0.3185 0.1037 0.0377 0.3463 0.2954 0.2194 0.1228 0.29 0.32 0.28 0.22 0.25 rs12192672 COSM3762173;COSM3762174 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2320 0.3120 0.1134 0.2341 0.0397 0.3489 0.2930 0.2397 0.1215 0.2845 0.3033 0.1555 0.2285 0.0365 0.3593 0.2911 0.2883 hom 4152.49 128 6 7229619 . G A 4152.49 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9810;MQ=58.88;MQ0=0;QD=32.44;VQSLOD=9.1385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4152,331,0 6 7247248 7247248 T C exonic RREB1 nonsynonymous SNV RREB1:NM_001003698:exon11:c.T4400C:p.L1467P,RREB1:NM_001168344:exon11:c.T4400C:p.L1467P,RREB1:NM_001003699:exon12:c.T4565C:p.L1522P 0.78 0.95 0.63 0.79 0.66 0.78 0.7100 0.9047 0.6587 0.7757 0.7302 0.6654 0.6949 0.7589 0.73 0.89 0.65 0.8 0.09 rs2256596 . . . . . . . . . . . . . 0.317 0.140 T 0.0 0.026 B 0.0 0.013 B 0.639 0.059 N 1.000 0.372 P -0.895 0.014 N 2.88 0.107 T 0.94 0.015 N 0.011 0.001 -0.918 0.458 T 0.005 0.016 T . . . -0.590 0.050 0.132 0.375 0.025 0.462 0.275 N c -1.246 -1.138 1.000 0.402 0.646 0.450 0 1.64 0.228 1.026 0.295 -1.080 0.019 0.565 0.272 0.001 0.043 9.509 0.380 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.6884 0.9061 0.6371 0.6584 0.7707 0.7023 0.6444 0.6792 0.7462 0.7436 0.9042 0.6554 0.6233 0.8047 0.7034 0.6603 0.7300 hom 677.54 19 6 7247248 . T C 677.54 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.66;VQSLOD=14.1539;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:57.17:711,57,0 6 7247344 7247344 C A exonic RREB1 nonsynonymous SNV RREB1:NM_001003698:exon11:c.C4496A:p.S1499Y,RREB1:NM_001168344:exon11:c.C4496A:p.S1499Y,RREB1:NM_001003699:exon12:c.C4661A:p.S1554Y 0.13 0.24 0.091 0.036 0.16 0.062 0.1418 0.2099 0.0549 0.0345 0.2046 0.1746 0.1185 0.0624 0.18 0.2 0.16 0.087 0.11 rs35742417 COSM4161333;COSM150040 1(stomach);1(thyroid) . . . . . . . . . . . 0.008 0.586 D 0.07 0.362 B 0.123 0.377 B 0.562 0.113 N 1.000 0.225 P 1.845 0.488 L 3.12 0.081 T -0.81 0.223 N 0.044 0.024 -0.932 0.438 T 0.008 0.029 T . . . 4.097 0.550 23.7 0.952 0.257 0.700 0.341 D c -0.227 -0.111 1.000 0.517 0.707 0.730 0 3.42 0.381 2.173 0.419 0.016 0.142 1.000 0.715 0.953 0.430 4.320 0.104 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.1352 0.2078 0.0581 0.1023 0.0369 0.2137 0.1723 0.1311 0.0614 0.1830 0.2087 0.0634 0.1159 0.0327 0.2245 0.1834 0.1745 hom 1992.39 71 6 7247344 . C A 1992.39 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3162;MQ=59.68;MQ0=0;QD=28.06;VQSLOD=6.5861;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,70:71:99:2025,162,0 6 7310259 7310259 A G exonic SSR1 nonsynonymous SNV SSR1:NM_001292008:exon2:c.T83C:p.L28S,SSR1:NM_003144:exon2:c.T83C:p.L28S 0.29 0.51 0.15 0.26 0.25 0.18 0.2547 0.4646 0.1103 0.2145 0.2540 0.2703 0.2318 0.1837 0.33 0.45 0.26 0.35 0.26 rs10004 COSM323621 1(lung);1(large_intestine) . . . . . . . . . . . 0.451 0.093 T 0.0 0.026 B 0.001 0.040 B 0.077 0.211 N 1 0.090 P 1.7 0.440 L 0.93 0.441 T -0.41 0.140 N 0.027 0.118 -1.037 0.182 T 0.025 0.107 T . . . 0.494 0.141 7.383 0.791 0.122 0.041 0.094 N c -0.851 -0.758 1.000 0.441 0.732 0.924 0 3.04 0.340 2.809 0.474 -0.223 0.096 0.926 0.319 0.114 0.194 7.604 0.271 . ENSG00000238221.1|ENSG00000124783.8 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.2421 0.4676 0.1192 0.2372 0.2173 0.2533 0.2671 0.2395 0.1810 0.3115 0.4561 0.1492 0.2252 0.2071 0.2668 0.2631 0.2643 hom 3785.24 118 6 7310259 . A G 3785.24 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.703;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4385;MQ=59.73;MQ0=0;MQRankSum=1.525;QD=32.08;ReadPosRankSum=1.288;VQSLOD=8.7073;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,116:118:99:3785,295,0 6 7374207 7374207 T G exonic CAGE1 nonsynonymous SNV CAGE1:NM_205864:exon4:c.A437C:p.E146A,CAGE1:NM_001170692:exon5:c.A845C:p.E282A,CAGE1:NM_001170693:exon5:c.A845C:p.E282A 0.1 0.07 0.15 0.11 0.15 0.063 0.1341 0.0920 0.2175 0.0951 0.1707 0.1434 0.1114 0.0700 0.13 0.092 0.14 0.13 . rs2876098 . . . . . . . . . . . . . 0.015 0.531 D 0.908 0.481 P 0.436 0.444 B 0.154 0.179 N 1 0.090 P 1.65 0.424 L 1.33 0.350 T -3.01 0.667 D 0.077 0.160 -1.094 0.049 T 0.047 0.200 T . . . 1.536 0.247 13.50 0.985 0.420 0.103 0.157 N c -0.368 -0.503 0.921 0.266 0.603 0.348 0 3.23 0.360 0.489 0.219 0.107 0.202 0.001 0.137 0.001 0.043 7.542 0.267 . ENSG00000096696.9|ENSG00000096696.9|ENSG00000124784.4|ENSG00000096696.9 Adipose_Subcutaneous|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen 0.1375 0.0905 0.2018 0.1128 0.0920 0.1717 0.1458 0.1333 0.0701 0.1281 0.0963 0.1842 0.1225 0.0906 0.1810 0.1350 0.1344 het 911.27 71 6 7374207 . T G 911.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.300;DP=71;Dels=0.00;FS=17.088;HRun=0;HaplotypeScore=2.9872;MQ=59.12;MQ0=0;MQRankSum=0.195;QD=12.83;ReadPosRankSum=-0.296;VQSLOD=3.6341;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,36:71:99:941,0,855 6 7563983 7563983 T G exonic DSP synonymous SNV DSP:NM_001008844:exon6:c.T741G:p.A247A,DSP:NM_001319034:exon6:c.T741G:p.A247A,DSP:NM_004415:exon6:c.T741G:p.A247A 1. 1. 1. 1. 1. 1. 0.9991 0.9997 1 1 0.9994 0.9985 1 0.9999 1. 1. 1. 0.95 1. rs2806234 . . Likely benign\x2cother\x2cLikely benign not_specified\x2cnot_specified\x2cnot_specified RCV000154388.1\x2cRCV000038087.3\x2cRCV000038088.2 MedGen\x2cMedGen\x2cMedGen CN169374\x2cCN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9992 0.9997 1.0000 0.9991 1 0.9993 0.9986 0.9995 1.0000 0.9995 0.9999 1 1 1 0.9991 0.9992 0.9990 hom 2382.76 88 6 7563983 . T G 2382.76 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.08;MQ0=0;QD=27.08;VQSLOD=7.0127;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2416,193,0 6 7572262 7572262 A G exonic DSP synonymous SNV DSP:NM_001008844:exon15:c.A2091G:p.G697G,DSP:NM_001319034:exon15:c.A2091G:p.G697G,DSP:NM_004415:exon15:c.A2091G:p.G697G 0.77 0.82 0.79 0.8 0.77 0.67 0.7614 0.8012 0.7622 0.8130 0.7120 0.7720 0.7577 0.6862 0.79 0.8 0.78 0.84 0.8 rs2076304 COSM5653495 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign\x2cBenign not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy\x2c_type_8|Cardiomyopathy_dilated_with_woolly_hair_and_keratoderma\x2cnot_specified RCV000154389.1|RCV000206052.2|RCV000206052.2\x2cRCV000038004.2 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet\x2cMedGen CN169374|C1843896:607450|C1854063:605676:ORPHA65282\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7616 0.8014 0.7705 0.8349 0.8090 0.7166 0.7704 0.7681 0.6819 0.7676 0.7984 0.7506 0.8543 0.8169 0.7120 0.7585 0.7357 het 865.06 97 6 7572262 . A G 865.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.253;DP=97;Dels=0.00;FS=1.823;HRun=3;HaplotypeScore=2.9936;MQ=59.81;MQ0=0;MQRankSum=0.828;QD=8.92;ReadPosRankSum=-0.813;VQSLOD=5.1733;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,40:97:99:895,0,1506 6 7576527 7576527 G A exonic DSP synonymous SNV DSP:NM_001008844:exon19:c.G2631A:p.R877R,DSP:NM_001319034:exon19:c.G2631A:p.R877R,DSP:NM_004415:exon19:c.G2631A:p.R877R 0.74 0.61 0.79 0.81 0.8 0.73 0.7718 0.6447 0.7717 0.8046 0.7117 0.7998 0.7594 0.7461 0.75 0.64 0.8 0.71 0.76 rs1016835 COSM5904827 1(skin) Benign\x2cBenign|Benign|Benign|Benign|Benign|Benign not_specified\x2cnot_specified|Cardiovascular_phenotype|Ectodermal_dysplasia_skin_fragility_syndrome|Skin_fragility_woolly_hair_syndrome|Epidermolysis_bullosa\x2c_lethal_acantholytic|Cardiomyopathy\x2c_ARVC RCV000154390.1\x2cRCV000038011.3|RCV000250214.1|RCV000289404.1|RCV000292946.1|RCV000352543.1|RCV000388191.1 MedGen\x2cMedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen CN169374\x2cCN169374|CN230736|C1858302:604536:ORPHA158668|C1843292:607655:ORPHA293165|C1864826:609638:ORPHA158687|CN239181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7741 0.6421 0.7850 0.8169 0.8044 0.7171 0.8007 0.7858 0.7399 0.7345 0.6387 0.7661 0.8444 0.7970 0.7140 0.7824 0.7628 het 944.47 71 6 7576527 . G A 944.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.597;DP=71;Dels=0.00;FS=7.164;HRun=0;HaplotypeScore=5.7187;MQ=58.07;MQ0=0;MQRankSum=-0.340;QD=13.30;ReadPosRankSum=-0.444;VQSLOD=4.3527;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,38:71:99:974,0,893 6 7584617 7584617 C T exonic DSP synonymous SNV DSP:NM_001008844:exon24:c.C5325T:p.T1775T,DSP:NM_001319034:exon24:c.C5793T:p.T1931T,DSP:NM_004415:exon24:c.C7122T:p.T2374T 0.21 0.14 0.24 0.074 0.38 0.26 0.2881 0.1681 0.1799 0.0682 0.3304 0.3568 0.3007 0.2592 0.3 0.17 0.37 0.21 0.39 rs2076300 COSM150043 1(stomach);1(large_intestine) Benign|Benign|Benign|Benign|Benign not_specified|Epidermolysis_bullosa\x2c_lethal_acantholytic|Cardiomyopathy\x2c_ARVC|Ectodermal_dysplasia_skin_fragility_syndrome|Skin_fragility_woolly_hair_syndrome RCV000038083.3|RCV000280755.1|RCV000295739.1|RCV000348344.1|RCV000391444.1 MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374|C1864826:609638:ORPHA158687|CN239181|C1858302:604536:ORPHA158668|C1843292:607655:ORPHA293165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2894 0.1670 0.1952 0.4315 0.0662 0.3296 0.3556 0.3244 0.2568 0.2675 0.1651 0.2160 0.4371 0.0651 0.3282 0.3318 0.3006 het 1164.44 94 6 7584617 . C T 1164.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.194;DP=94;Dels=0.00;FS=2.739;HRun=0;HaplotypeScore=1.7781;MQ=59.75;MQ0=0;MQRankSum=1.694;QD=12.39;ReadPosRankSum=-0.216;VQSLOD=6.3120;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,44:94:99:1194,0,1298 6 7585967 7585967 G C exonic DSP synonymous SNV DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G 0.71 0.61 0.75 0.8 0.71 0.72 0.7117 0.6397 0.7338 0.8066 0.6397 0.7101 0.6850 0.7272 0.69 0.63 0.72 0.65 . rs2744380 . . Benign\x2cBenign|Benign|Benign|Benign|Benign|Benign not_specified\x2cnot_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa\x2c_lethal_acantholytic|Skin_fragility_woolly_hair_syndrome RCV000154391.1\x2cRCV000038104.4|RCV000241982.1|RCV000273141.1|RCV000304085.1|RCV000328251.1|RCV000363396.1 MedGen\x2cMedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN169374\x2cCN169374|CN230736|CN239181|C1858302:604536:ORPHA158668|C1864826:609638:ORPHA158687|C1843292:607655:ORPHA293165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7137 0.6367 0.7507 0.7447 0.8051 0.6456 0.7084 0.7150 0.7193 0.6718 0.6315 0.7398 0.7781 0.7978 0.6403 0.6820 0.6875 het 1892.85 143 6 7585967 . G C 1892.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.380;DP=143;DS;Dels=0.00;FS=11.383;HRun=0;HaplotypeScore=3.9670;MQ=59.52;MQ0=0;MQRankSum=0.188;QD=13.24;ReadPosRankSum=-1.388;VQSLOD=3.5650;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,70:143:99:1923,0,2114 6 7862631 7862631 G C exonic BMP6 synonymous SNV BMP6:NM_001718:exon4:c.G1104C:p.V368V 0.6 0.75 0.61 0.74 0.39 0.45 0.4637 0.6956 0.6977 0.7357 0.4182 0.3747 0.4283 0.3912 0.48 0.69 0.37 0.6 0.38 rs17557 COSM5652375 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4684 0.7047 0.6872 0.3100 0.7364 0.4258 0.3755 0.4245 0.3881 0.5017 0.6977 0.6555 0.31 0.7142 0.4424 0.3797 0.4112 het 2183.75 152 6 7862631 . G C 2183.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.078;DP=152;Dels=0.00;FS=7.226;HRun=1;HaplotypeScore=8.5134;MQ=59.30;MQ0=0;MQRankSum=2.184;QD=14.37;ReadPosRankSum=-0.076;VQSLOD=3.0901;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,78:152:99:2214,0,2039 6 10587038 10587038 C G exonic GCNT2 nonsynonymous SNV GCNT2:NM_145655:exon1:c.C816G:p.D272E 0.98 1. 1. 0.92 1. 1. 0.9924 0.9995 0.9990 0.9065 1 0.9991 0.9934 0.9985 1. 1. 1. 0.99 1. rs539351 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B . . . 0.997 0.810 P -1.06 0.011 N 2.89 0.102 T 1.5 0.007 N 0.017 0.009 -0.912 0.467 T 0.003 0.010 T . . . 2.158 0.320 17.23 0.393 0.027 0.088 0.145 N c -1.119 -0.918 1.000 0.431 0.660 0.490 0 2.56 0.297 -0.403 0.072 -0.926 0.025 0.000 0.063 0.965 0.450 13.140 0.587 . . . 0.9919 0.9992 0.9994 0.9845 0.9016 1 0.9997 0.9951 0.9983 0.9941 0.9991 0.9976 0.9868 0.8970 1 0.9999 0.9969 hom 5589.40 175 6 10587038 . C G 5589.40 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3658;MQ=58.91;MQ0=0;QD=31.94;VQSLOD=8.3715;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5589,430,0 6 10764727 10764727 A G exonic MAK synonymous SNV MAK:NM_001242385:exon13:c.T1710C:p.H570H,MAK:NM_005906:exon13:c.T1830C:p.H610H,MAK:NM_001242957:exon14:c.T1905C:p.H635H 0.87 0.97 0.79 0.92 0.8 0.8 0.8132 0.9342 0.8235 0.9245 0.8705 0.7723 0.7874 0.8154 0.82 0.93 0.77 0.89 0.72 rs126405 . . Benign Retinitis_Pigmentosa\x2c_Recessive RCV000403987.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8131 0.9370 0.8176 0.7216 0.9240 0.8720 0.7740 0.7851 0.8171 0.8483 0.9304 0.8213 0.7185 0.9284 0.8547 0.7972 0.8086 het 957.03 101 6 10764727 . A G 957.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.746;DP=101;Dels=0.00;FS=2.764;HRun=0;HaplotypeScore=3.6051;MQ=59.17;MQ0=0;MQRankSum=-1.114;QD=9.48;ReadPosRankSum=-1.017;VQSLOD=5.2479;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,40:101:99:987,0,1627 6 10891781 10891781 C T exonic SYCP2L synonymous SNV SYCP2L:NM_001040274:exon2:c.C45T:p.D15D 0.99 0.96 0.99 1. 1. 1. 0.9966 0.9658 0.9966 1 1 0.9995 0.9989 0.9998 0.99 0.97 1. 1. 0.98 rs1538441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9669 0.9968 0.9965 1 1 0.9997 0.9981 0.9999 0.9907 0.9689 0.9928 0.9967 1 1 0.9997 0.9959 hom 3027.64 111 6 10891781 . C T 3027.64 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=54.57;MQ0=0;QD=27.28;VQSLOD=5.9645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3061,238,0 6 10906256 10906256 A G exonic SYCP2L synonymous SNV SYCP2L:NM_001040274:exon9:c.A645G:p.K215K 0.2 0.034 0.11 0.38 0.19 0.3 0.1991 0.0484 0.1064 0.3775 0.1999 0.1901 0.2060 0.2956 0.15 0.052 0.19 0.11 0.2 rs4713039 COSM4003648 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1954 0.0460 0.1108 0.1495 0.3668 0.2023 0.1930 0.1786 0.2898 0.1570 0.0504 0.1151 0.1457 0.3806 0.1915 0.1880 0.1796 het 1924.05 196 6 10906256 . A G 1924.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.380;DP=196;Dels=0.00;FS=1.770;HRun=1;HaplotypeScore=1.7074;MQ=58.61;MQ0=0;MQRankSum=1.472;QD=9.82;ReadPosRankSum=0.864;VQSLOD=6.0648;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:114,82:196:99:1954,0,2775 6 10955408 10955408 C T exonic SYCP2L nonsynonymous SNV SYCP2L:NM_001040274:exon24:c.C2014T:p.P672S 0.88 0.78 0.94 0.8 0.98 0.97 0.9403 0.8143 0.9026 0.7788 0.9542 0.9832 0.9456 0.9465 0.94 0.82 0.99 0.8 0.98 rs1225746 COSM150048 1(stomach) . . . . . . . . . . . 0.011 0.555 D 0.998 0.715 D 0.948 0.668 D 0.083 0.208 N 1 0.090 P 1.355 0.339 L 1.9 0.235 T -1.69 0.402 N 0.064 0.049 -1.050 0.143 T 0.106 0.387 T . . . 2.481 0.359 19.34 0.888 0.177 0.156 0.188 N c 0.126 -0.052 0.999 0.391 0.624 0.395 0 5.23 0.725 1.079 0.302 0.935 0.490 0.002 0.151 0.019 0.132 14.234 0.653 . . . 0.9407 0.8135 0.9088 0.9537 0.7821 0.9500 0.9869 0.9471 0.9480 0.9189 0.8107 0.9248 0.9702 0.7680 0.9508 0.9865 0.9571 hom 6918.61 237 6 10955408 . C T 6918.61 Mask AC=2;AF=1.00;AN=2;DP=237;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7152;MQ=59.05;MQ0=0;QD=29.19;VQSLOD=8.2746;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:6918,545,0 6 11185533 11185533 G A exonic NEDD9 synonymous SNV NEDD9:NM_001271033:exon6:c.C1920T:p.T640T,NEDD9:NM_006403:exon7:c.C2367T:p.T789T,NEDD9:NM_001142393:exon8:c.C2367T:p.T789T 0.49 0.65 0.42 0.35 0.55 0.42 0.4905 0.6283 0.3278 0.3490 0.5172 0.5309 0.5 0.4176 0.57 0.63 0.53 0.62 0.55 rs1050775 COSM150051;COSM3761433;COSM3761434 1(bone);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4849 0.6305 0.3503 0.5371 0.3495 0.5150 0.5344 0.4960 0.4154 0.5492 0.6241 0.3962 0.5232 0.3638 0.5120 0.5445 0.5309 het 2828.46 240 6 11185533 . G A 2828.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.781;DP=240;Dels=0.00;FS=1.053;HRun=0;HaplotypeScore=5.3783;MQ=59.52;MQ0=0;MQRankSum=0.049;QD=11.79;ReadPosRankSum=0.170;VQSLOD=5.4303;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,114:240:99:2858,0,3783 6 11190215 11190215 G A exonic NEDD9 synonymous SNV NEDD9:NM_001271033:exon4:c.C1440T:p.Y480Y,NEDD9:NM_006403:exon5:c.C1887T:p.Y629Y,NEDD9:NM_001142393:exon6:c.C1887T:p.Y629Y 0.0082 0.0045 0.0058 . 0.014 0.017 0.0174 0.0038 0.0052 0.0001 0.0272 0.0222 0.0215 0.0232 0.015 0.0034 0.021 . 0.025 rs35719173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0170 0.0033 0.0084 0.0177 6.702e-05 0.0269 0.0215 0.0189 0.0220 0.0149 0.0038 0.0155 0.0099 0.0006 0.0221 0.021 0.0183 het 2802.80 237 6 11190215 . G A 2802.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.589;DP=237;DS;Dels=0.00;FS=2.224;HRun=0;HaplotypeScore=6.6657;MQ=59.31;MQ0=0;MQRankSum=-0.125;QD=11.83;ReadPosRankSum=0.188;VQSLOD=4.6363;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,111:237:99:2833,0,3322 6 11190626 11190626 A G exonic NEDD9 synonymous SNV NEDD9:NM_001271033:exon4:c.T1029C:p.V343V,NEDD9:NM_006403:exon5:c.T1476C:p.V492V,NEDD9:NM_001142393:exon6:c.T1476C:p.V492V 0.94 0.95 0.92 1. 0.86 0.97 0.8971 0.9302 0.9208 0.9999 0.8790 0.8625 0.8962 0.9531 0.88 0.92 0.86 0.95 0.85 rs941982 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8973 0.9317 0.9163 0.8389 0.9999 0.8824 0.8649 0.8849 0.9510 0.8968 0.9345 0.9200 0.8344 0.9994 0.8812 0.8686 0.8796 hom 3754.89 110 6 11190626 . A G 3754.89 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6492;MQ=59.03;MQ0=0;QD=34.14;VQSLOD=9.5152;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3754,322,0 6 11213832 11213832 T C exonic NEDD9 synonymous SNV NEDD9:NM_006403:exon2:c.A141G:p.S47S,NEDD9:NM_182966:exon2:c.A141G:p.S47S,NEDD9:NM_001142393:exon3:c.A141G:p.S47S 0.44 0.6 0.38 0.41 0.43 0.31 0.3944 0.5713 0.3092 0.4274 0.3745 0.4062 0.3656 0.2872 0.46 0.56 0.41 0.5 0.48 rs3734404 COSM5830226;COSM3761439;COSM3761438;COSM3761437 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3918 0.5754 0.3302 0.3876 0.4265 0.3740 0.4114 0.3869 0.2922 0.4499 0.5648 0.3663 0.3940 0.4301 0.3578 0.4172 0.3770 het 2410.24 172 6 11213832 . T C 2410.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.012;DP=172;Dels=0.00;FS=0.581;HRun=0;HaplotypeScore=13.6313;MQ=58.04;MQ0=0;MQRankSum=0.634;QD=14.01;ReadPosRankSum=-0.681;VQSLOD=2.3362;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,96:172:99:2440,0,1918 6 12120445 12120445 A G exonic HIVEP1 synonymous SNV HIVEP1:NM_002114:exon4:c.A417G:p.Q139Q 0.22 0.063 0.25 0.22 0.34 0.28 0.3029 0.0927 0.2303 0.2309 0.3475 0.3575 0.3033 0.2772 0.27 0.095 0.35 0.16 0.38 rs2228215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3036 0.0899 0.2441 0.3456 0.2325 0.3451 0.3575 0.3194 0.2727 0.2648 0.0942 0.2339 0.3874 0.2184 0.3313 0.3488 0.3282 hom 4069.10 115 6 12120445 . A G 4069.10 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=59.44;MQ0=0;QD=35.38;VQSLOD=9.3893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:4069,319,0 6 12120588 12120588 C T exonic HIVEP1 nonsynonymous SNV HIVEP1:NM_002114:exon4:c.C560T:p.T187M 0.21 0.02 0.24 0.22 0.34 0.28 0.3001 0.0625 0.2285 0.2313 0.3474 0.3572 0.3022 0.2772 0.26 0.067 0.35 0.16 0.38 rs2228209 . . . . . . . . . . . . . 0.026 0.469 D 0.982 0.581 D 0.549 0.474 P 0.490 0.121 N 1 0.090 P 1.995 0.543 M 2.88 0.103 T -1.27 0.320 N 0.087 0.083 -0.998 0.306 T 0.016 0.065 T . . . 2.694 0.385 20.8 0.997 0.822 0.435 0.269 N c -0.183 -0.304 1.000 0.500 0.707 0.730 0 3.68 0.412 0.440 0.212 0.031 0.150 0.000 0.063 0.000 0.016 4.923 0.131 . . . 0.3012 0.0600 0.2422 0.3457 0.2321 0.3453 0.3572 0.3179 0.2726 0.2563 0.0643 0.2327 0.3874 0.2175 0.3307 0.3489 0.3279 hom 4893.42 147 6 12120588 . C T 4893.42 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3800;MQ=59.18;MQ0=0;QD=33.29;VQSLOD=8.2964;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4893,388,0 6 12122174 12122174 A G exonic HIVEP1 nonsynonymous SNV HIVEP1:NM_002114:exon4:c.A2146G:p.T716A 0.21 0.02 0.24 0.22 0.34 0.29 0.3003 0.0629 0.2279 0.2312 0.3477 0.3575 0.3040 0.2769 0.26 0.066 0.35 0.16 0.38 rs2228210 . . . . . . . . . . . . . 0.361 0.119 T 0.003 0.102 B 0.001 0.040 B 0.258 0.154 N 1 0.090 P 0.69 0.170 N 3.25 0.068 T -0.9 0.242 N 0.016 0.003 -0.909 0.470 T 0.003 0.011 T . . . -2.487 0.003 0.001 0.315 0.018 0.116 0.166 N c -1.617 -1.680 0.999 0.395 0.707 0.730 0 -7.64 0.011 0.055 0.140 -1.197 0.016 0.000 0.063 0.000 0.016 8.191 0.304 . . . 0.3014 0.0600 0.2420 0.3459 0.2329 0.3452 0.3575 0.3186 0.2722 0.2560 0.0645 0.2333 0.3833 0.2181 0.3315 0.3481 0.3262 hom 3074.91 96 6 12122174 . A G 3074.91 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7641;MQ=59.32;MQ0=0;QD=32.03;VQSLOD=8.7814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3108,259,0 6 12122645 12122645 A G exonic HIVEP1 nonsynonymous SNV HIVEP1:NM_002114:exon4:c.A2617G:p.T873A 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs6900196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 6455.86 211 6 12122645 . A G 6455.86 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6701;MQ=59.11;MQ0=0;QD=30.60;VQSLOD=8.2090;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6455,532,0 6 12124855 12124855 G A exonic HIVEP1 nonsynonymous SNV HIVEP1:NM_002114:exon4:c.G4827A:p.M1609I 0.22 0.063 0.24 0.22 0.33 0.28 0.2992 0.0913 0.2280 0.2305 0.3471 0.3531 0.3011 0.2708 0.26 0.091 0.34 0.17 0.38 rs2228213 COSM1132046 1(bone);2(prostate);2(large_intestine) . . . . . . . . . . . 0.161 0.236 T 0.004 0.112 B 0.001 0.040 B . . . 1 0.090 P 1.67 0.430 L 3.11 0.082 T -0.29 0.117 N 0.016 0.003 -0.976 0.359 T 0.009 0.030 T . . . -0.328 0.066 0.574 0.541 0.050 0.178 0.198 N c -0.811 -0.839 0.009 0.118 0.707 0.730 0 1.51 0.220 0.614 0.238 1.048 0.713 0.000 0.063 0.002 0.062 12.200 0.534 . . . 0.3001 0.0887 0.2427 0.3448 0.2317 0.3447 0.3527 0.3167 0.2656 0.2625 0.0934 0.2321 0.3874 0.2181 0.3309 0.3448 0.3282 hom 5685.88 178 6 12124855 . G A 5685.88 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;QD=31.94;VQSLOD=9.8144;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5685,466,0 6 12294258 12294258 A G exonic EDN1 synonymous SNV EDN1:NM_001168319:exon3:c.A315G:p.E105E,EDN1:NM_001955:exon3:c.A318G:p.E106E 0.9 0.83 0.9 0.98 0.88 0.94 0.9027 0.8496 0.9363 0.9761 0.9070 0.8835 0.9042 0.9504 0.87 0.86 0.88 0.89 0.87 rs5369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9043 0.8540 0.9310 0.8919 0.9754 0.9132 0.8794 0.8853 0.9518 0.8909 0.8566 0.9272 0.8874 0.9753 0.9192 0.8915 0.9153 hom 2922.72 90 6 12294258 . A G 2922.72 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=32.47;VQSLOD=9.8391;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2956,232,0 6 12296255 12296255 G T exonic EDN1 nonsynonymous SNV EDN1:NM_001168319:exon5:c.G591T:p.K197N,EDN1:NM_001955:exon5:c.G594T:p.K198N 0.25 0.16 0.15 0.29 0.21 0.43 0.2345 0.1952 0.1453 0.2804 0.1929 0.2118 0.2104 0.4072 0.21 0.2 0.21 0.2 0.28 rs5370 COSM150053 1(breast);1(stomach);1(urinary_tract);2(thyroid);3(large_intestine) other High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_7 RCV000018132.2 MedGen CN071314 Circulating vasoactive peptide levels . 2.96 23381795 rs5370 1E-27 0.117 0.282 T 0.454 0.343 P 0.071 0.265 B 0.082 0.208 N 0.998 0.221 P 1.32 0.331 L -1.87 0.844 D -0.89 0.240 N 0.116 0.127 -0.893 0.487 T 0.230 0.596 T . . . 0.538 0.145 7.712 0.971 0.320 0.206 0.209 N c -0.657 -0.707 1.000 0.747 0.628 0.401 0 2.18 0.267 0.070 0.143 1.048 0.713 0.002 0.151 0.026 0.142 9.471 0.378 . . . 0.2292 0.1906 0.1460 0.2114 0.2785 0.1913 0.2143 0.2144 0.4017 0.2134 0.1975 0.1277 0.2715 0.2859 0.1993 0.2208 0.2276 het 2606.21 228 6 12296255 . G T 2606.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.315;DP=228;DS;Dels=0.00;FS=3.012;HRun=0;HaplotypeScore=6.3678;MQ=58.79;MQ0=0;MQRankSum=0.840;QD=11.43;ReadPosRankSum=0.420;VQSLOD=5.0678;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,111:228:99:2636,0,2927 6 13599303 13599303 C T exonic SIRT5 synonymous SNV SIRT5:NM_001193267:exon7:c.C603T:p.H201H,SIRT5:NM_001242827:exon7:c.C333T:p.H111H,SIRT5:NM_012241:exon8:c.C657T:p.H219H,SIRT5:NM_031244:exon8:c.C657T:p.H219H 0.17 0.046 0.18 0.21 0.24 0.23 0.2026 0.0670 0.1651 0.1645 0.1987 0.2297 0.2015 0.2263 0.18 0.07 0.23 0.16 0.18 rs3757261 COSM1440683;COSM1440684 2(urinary_tract);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2026 0.0622 0.1668 0.2180 0.1699 0.1897 0.2310 0.2317 0.2264 0.1659 0.0686 0.1950 0.2384 0.1722 0.1937 0.2104 0.1990 het 1549.51 115 6 13599303 . C T 1549.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.807;DP=115;Dels=0.00;FS=0.723;HRun=0;HaplotypeScore=6.7031;MQ=58.83;MQ0=0;MQRankSum=0.344;QD=13.47;ReadPosRankSum=-0.204;VQSLOD=5.1162;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,57:115:99:1580,0,1506 6 15513482 15513482 G A exonic JARID2 synonymous SNV JARID2:NM_001267040:exon16:c.G2763A:p.L921L,JARID2:NM_004973:exon16:c.G3279A:p.L1093L 0.58 0.3 0.65 0.67 0.75 0.67 0.7441 0.4135 0.7049 0.6973 0.8442 0.8003 0.7434 0.7242 0.64 0.38 0.77 0.52 0.49 rs2235258 COSM450779 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7230 0.3631 0.6571 0.8363 0.6736 0.8280 0.7722 0.7386 0.6990 0.6556 0.3753 0.6494 0.8311 0.6485 0.8220 0.7699 0.7724 hom 489.04 15 6 15513482 . G A 489.04 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.72;MQ0=0;QD=32.60;VQSLOD=8.7050;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:45.13:522,45,0 6 16145325 16145325 A G exonic MYLIP nonsynonymous SNV MYLIP:NM_013262:exon6:c.A1025G:p.N342S 0.77 0.97 0.69 0.94 0.49 0.67 0.6066 0.9018 0.7624 0.9548 0.4776 0.4935 0.5264 0.6417 0.62 0.89 0.48 0.83 0.3 rs9370867 COSM4999246 1(bone);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.029 0.255 N 1 0.090 P -0.035 0.050 N -1.55 0.817 D -0.07 0.080 N 0.001 0.000 -1.070 0.094 T 0.107 0.389 T . . . -0.953 0.034 0.020 0.638 0.071 0.015 0.050 N c -1.140 -1.031 1.000 0.747 0.672 0.522 0 3.85 0.434 1.971 0.399 0.138 0.222 0.107 0.227 0.179 0.212 9.937 0.405 . . . 0.5991 0.9087 0.7418 0.5132 0.9501 0.4702 0.4842 0.5583 0.6376 0.6416 0.8941 0.7327 0.5067 0.9475 0.4774 0.4997 0.6063 het 3175.08 207 6 16145325 . A G 3175.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.778;DP=207;DS;Dels=0.00;FS=0.518;HRun=0;HaplotypeScore=8.9950;MQ=59.23;MQ0=0;MQRankSum=-0.572;QD=15.34;ReadPosRankSum=0.326;VQSLOD=4.2548;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,114:207:99:3205,0,2457 6 16145473 16145473 C T exonic MYLIP synonymous SNV MYLIP:NM_013262:exon6:c.C1173T:p.C391C 0.025 0.003 0.037 0.001 0.074 0.02 0.0674 0.0146 0.0321 0 0.1119 0.0958 0.0795 0.0271 0.065 0.016 0.09 0.011 0.082 rs1060901 COSM1442092 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0663 0.0130 0.0330 0.0569 0.0002 0.1198 0.0951 0.0699 0.0257 0.0726 0.0155 0.0406 0.0464 0.0012 0.1228 0.1041 0.0757 het 3094.68 243 6 16145473 . C T 3094.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.279;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6370;MQ=59.02;MQ0=0;MQRankSum=1.669;QD=12.68;ReadPosRankSum=0.456;VQSLOD=4.6722;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,121:243:99:3125,0,3017 6 16290761 16290761 T A exonic GMPR nonsynonymous SNV GMPR:NM_006877:exon8:c.T766A:p.F256I 0.71 0.88 0.56 0.87 0.4 0.72 0.5444 0.8335 0.5966 0.8883 0.5169 0.4199 0.4901 0.6625 0.54 0.82 0.39 0.74 0.4 rs1042391 COSM3761637 1(large_intestine) Benign GMP_REDUCTASE_POLYMORPHISM RCV000017331.2 . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.182 P -2.34 0.001 N -1.05 0.767 T 3.74 0.001 N 0.152 0.181 -1.067 0.101 T 0.040 0.172 T . . . 0.969 0.187 10.48 0.519 0.046 0.375 0.255 N c -0.920 -0.633 1.000 0.473 0.732 0.924 0 5.22 0.722 4.299 0.586 0.165 0.245 1.000 0.715 0.979 0.486 11.563 0.499 Aldolase-type TIM barrel|IMP dehydrogenase/GMP reductase ENSG00000137198.5 Artery_Aorta 0.5356 0.8413 0.5847 0.4917 0.8875 0.5059 0.4040 0.4907 0.6542 0.5810 0.8361 0.5537 0.4503 0.8934 0.5192 0.4211 0.5175 het 4307.55 240 6 16290761 . T A 4307.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.293;DP=240;DS;Dels=0.00;FS=0.505;HRun=0;HaplotypeScore=1.9965;MQ=59.05;MQ0=0;MQRankSum=0.209;QD=17.95;ReadPosRankSum=-0.456;VQSLOD=5.2198;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,136:240:99:3635,0,2857 6 16327330 16327330 T C exonic ATXN1 synonymous SNV ATXN1:NM_001128164:exon7:c.A1212G:p.E404E,ATXN1:NM_000332:exon8:c.A1212G:p.E404E 0.37 0.46 0.21 0.48 0.21 0.41 0.2710 0.4403 0.2197 0.5044 0.1840 0.2068 0.2318 0.3748 0.28 0.43 0.2 0.32 0.2 rs2075974 . . Likely benign not_specified RCV000116468.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2633 0.4458 0.2220 0.2144 0.5037 0.1791 0.2068 0.2420 0.3675 0.2845 0.4349 0.2590 0.1987 0.5149 0.1771 0.2045 0.2245 het 4214.51 247 6 16327330 . T C 4214.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.158;DP=247;DS;Dels=0.00;FS=2.159;HRun=1;HaplotypeScore=1.7219;MQ=59.59;MQ0=0;MQRankSum=0.360;QD=17.06;ReadPosRankSum=-0.150;VQSLOD=6.4743;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:119,128:247:99:3570,0,3370 6 16327615 16327615 A G exonic ATXN1 synonymous SNV ATXN1:NM_001128164:exon7:c.T927C:p.A309A,ATXN1:NM_000332:exon8:c.T927C:p.A309A 0.78 0.8 0.8 0.86 0.66 0.79 0.7320 0.7948 0.8507 0.8624 0.6748 0.6797 0.7029 0.7766 0.71 0.79 0.67 0.78 0.66 rs179990 COSM3761638 1(thyroid);1(large_intestine) Likely benign\x2cLikely benign not_specified\x2cnot_specified RCV000116476.2\x2cRCV000116475.2 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7301 0.7964 0.8295 0.6461 0.8596 0.6701 0.6799 0.7082 0.7723 0.7256 0.7815 0.8153 0.61 0.8494 0.6708 0.6906 0.7133 hom 2437.27 79 6 16327615 . A G 2437.27 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=58.94;MQ0=0;QD=30.85;VQSLOD=9.0569;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2470,202,0 6 16328068 16328068 T C exonic ATXN1 synonymous SNV ATXN1:NM_001128164:exon7:c.A474G:p.A158A,ATXN1:NM_000332:exon8:c.A474G:p.A158A 0.22 0.29 0.18 0.37 0.045 0.17 0.1172 0.2553 0.2081 0.3647 0.0827 0.0420 0.1056 0.1535 0.11 0.23 0.045 0.23 0.074 rs2072736 COSM1754645 2(urinary_tract);1(large_intestine) Likely benign not_specified RCV000116470.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1157 0.2495 0.1937 0.0324 0.3626 0.0765 0.0407 0.0893 0.1529 0.1273 0.2428 0.1699 0.0331 0.3691 0.0894 0.0443 0.0992 het 2023.30 147 6 16328068 . T C 2023.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.197;DP=147;Dels=0.00;FS=0.648;HRun=1;HaplotypeScore=8.9770;MQ=58.44;MQ0=0;MQRankSum=0.828;QD=13.76;ReadPosRankSum=2.090;VQSLOD=3.7619;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,77:147:99:2053,0,1942 6 17543302 17543302 A G exonic CAP2 synonymous SNV CAP2:NM_006366:exon11:c.A1137G:p.K379K 0.63 0.62 0.56 0.73 0.63 0.57 0.6192 0.6574 0.5314 0.7287 0.6492 0.6314 0.6189 0.5378 0.65 0.65 0.64 0.56 0.58 rs9256 COSM4003802 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6156 0.6577 0.5356 0.5972 0.7283 0.6546 0.6326 0.5947 0.5387 0.6468 0.6505 0.5835 0.6291 0.7153 0.6554 0.6387 0.6547 hom 8152.44 249 6 17543302 . A G 8152.44 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.36;MQ0=0;QD=32.74;VQSLOD=9.8142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8152,644,0 6 17629616 17629616 G A exonic NUP153 synonymous SNV NUP153:NM_001278210:exon17:c.C2688T:p.S896S,NUP153:NM_005124:exon18:c.C2814T:p.S938S,NUP153:NM_001278209:exon19:c.C2907T:p.S969S 0.89 0.86 0.99 0.71 0.99 0.94 0.9561 0.8671 0.9908 0.7142 0.9698 0.9932 0.9725 0.9578 0.95 0.87 1. 0.88 0.98 rs942467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9596 0.8612 0.9909 0.9986 0.7202 0.9706 0.9945 0.9779 0.9584 0.9377 0.8618 0.9881 0.9934 0.7007 0.9711 0.9935 0.9695 hom 2195.46 71 6 17629616 . G A 2195.46 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.82;MQ0=0;QD=30.92;VQSLOD=9.0602;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2228,172,0 6 17640216 17640216 T G exonic NUP153 synonymous SNV NUP153:NM_005124:exon15:c.A1800C:p.A600A,NUP153:NM_001278209:exon16:c.A1893C:p.A631A 0.0052 0.0008 0.01 . 0.012 0.0061 0.0072 0.0014 0.0048 0.0003 0.0097 0.0099 0.0055 0.0041 0.0078 0.0007 0.011 0.011 0.041 rs2228376 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0073 0.0014 0.0054 0.0015 0.0002 0.0101 0.0104 0.0079 0.0046 0.0058 0.0016 0.0036 0 0 0.0117 0.0077 0.0081 het 1831.04 147 6 17640216 . T G 1831.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.327;DP=147;Dels=0.00;FS=2.903;HRun=1;HaplotypeScore=6.9312;MQ=58.31;MQ0=0;MQRankSum=1.603;QD=12.46;ReadPosRankSum=-0.627;VQSLOD=4.3322;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,77:147:99:1861,0,1698 6 17764530 17764530 C T exonic KIF13A synonymous SNV KIF13A:NM_001105567:exon37:c.G5085A:p.E1695E,KIF13A:NM_001105568:exon37:c.G5085A:p.E1695E,KIF13A:NM_001105566:exon38:c.G5124A:p.E1708E,KIF13A:NM_022113:exon39:c.G5229A:p.E1743E 0.3 0.1 0.33 0.53 0.31 0.31 0.3093 0.1128 0.3370 0.5707 0.2922 0.3045 0.3087 0.2971 0.25 0.12 0.31 0.24 . rs9371018 COSM4418316;COSM4418317;COSM4418315 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3124 0.1088 0.3356 0.3246 0.5620 0.2869 0.3027 0.3159 0.2980 0.2599 0.1182 0.3341 0.2881 0.5708 0.2759 0.2971 0.3115 hom 924.78 30 6 17764530 . C T 924.78 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.494;DP=30;Dels=0.00;FS=3.163;HRun=1;HaplotypeScore=2.8097;MQ=60.00;MQ0=0;MQRankSum=0.538;QD=30.83;ReadPosRankSum=1.494;VQSLOD=4.0733;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,28:30:41.24:958,41,0 6 17794494 17794494 G A exonic KIF13A synonymous SNV KIF13A:NM_001105566:exon25:c.C3208T:p.L1070L,KIF13A:NM_001105567:exon25:c.C3208T:p.L1070L,KIF13A:NM_001105568:exon25:c.C3208T:p.L1070L,KIF13A:NM_022113:exon25:c.C3208T:p.L1070L 0.38 0.15 0.42 0.58 0.43 0.38 0.4176 0.1703 0.4127 0.6192 0.4100 0.4400 0.4139 0.375 0.36 0.18 0.44 0.28 . rs3734234 COSM3761718;COSM3761717;COSM3761716 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4177 0.1684 0.4173 0.4112 0.6104 0.4084 0.4380 0.4182 0.3692 0.3619 0.1760 0.4139 0.39 0.6046 0.3938 0.4297 0.4143 hom 5449.80 178 6 17794494 . G A 5449.80 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1239;MQ=59.87;MQ0=0;QD=30.62;VQSLOD=8.0628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:178:99:5449,433,0 6 18122506 18122506 G A exonic NHLRC1 nonsynonymous SNV NHLRC1:NM_198586:exon1:c.C332T:p.P111L 0.34 0.2 0.49 0.39 0.4 0.32 0.4211 0.2691 0.5735 0.4314 0.4652 0.4264 0.4245 0.3515 0.34 0.24 0.39 0.3 0.25 rs10949483 COSM3749962 1(pancreas);6(large_intestine) Benign|Benign not_specified|Lafora_disease RCV000117782.7|RCV000280891.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0751783:254780:ORPHA501:230425004 . . . . . . 0.032 0.446 D 0.164 0.268 B 0.04 0.225 B 0.001 0.428 D 0.930 0.271 P 1.59 0.404 L -4.18 0.969 D -2.48 0.540 N 0.16 0.192 0.499 0.905 D 0.769 0.922 D . . . 2.416 0.352 18.92 0.997 0.806 0.229 0.217 N c -0.266 -0.224 1.000 0.747 0.437 0.062 0 5.23 0.725 1.585 0.360 0.949 0.536 0.806 0.296 0.533 0.276 17.581 0.878 Six-bladed beta-propeller\x2c TolB-like . . 0.4031 0.2421 0.5344 0.3703 0.3913 0.4367 0.3996 0.4201 0.3404 0.3592 0.2460 0.4952 0.3576 0.3600 0.4187 0.4014 0.3900 het 392.18 35 6 18122506 . G A 392.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.488;DP=35;Dels=0.00;FS=2.026;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=1.263;QD=11.21;ReadPosRankSum=-0.488;VQSLOD=5.9603;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,14:35:99:422,0,565 6 18139214 18139214 G A exonic TPMT synonymous SNV TPMT:NM_000367:exon6:c.C474T:p.I158I,TPMT:NM_001346818:exon6:c.C474T:p.I158I,TPMT:NM_001346817:exon7:c.C474T:p.I158I 0.75 0.81 0.78 0.76 0.78 0.63 0.7633 0.8100 0.7719 0.7748 0.7545 0.7846 0.7379 0.6410 0.79 0.81 0.79 0.81 0.75 rs2842934 COSM3761722 1(large_intestine) Likely benign Thiopurine_methyltransferase_deficiency RCV000271266.1 MedGen:OMIM:SNOMED_CT C0342801:610460:238012003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7610 0.8147 0.7641 0.7187 0.7777 0.7541 0.7867 0.7680 0.6451 0.7849 0.8096 0.7596 0.7053 0.7670 0.7666 0.7819 0.7515 hom 4245.39 150 6 18139214 . G A 4245.39 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6620;MQ=59.21;MQ0=0;QD=28.30;VQSLOD=7.8122;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4245,322,0 6 18161563 18161563 G A exonic KDM1B synonymous SNV KDM1B:NM_153042:exon4:c.G93A:p.K31K 0.31 0.15 0.35 0.53 0.34 0.27 0.3491 0.1818 0.3319 0.5367 0.3627 0.3662 0.3543 0.2941 0.3 0.2 0.36 0.35 0.31 rs4716224 COSM5619107;COSM5619108 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3521 0.1804 0.3191 0.3718 0.5453 0.3768 0.3640 0.3611 0.2965 0.3193 0.1915 0.3058 0.3642 0.5392 0.3820 0.3533 0.3510 het 1886.76 146 6 18161563 . G A 1886.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.560;DP=146;Dels=0.00;FS=0.615;HRun=2;HaplotypeScore=3.8851;MQ=59.10;MQ0=0;MQRankSum=-0.319;QD=12.92;ReadPosRankSum=-1.709;VQSLOD=5.6939;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,72:146:99:1917,0,2064 6 18215303 18215303 T C exonic KDM1B synonymous SNV KDM1B:NM_153042:exon16:c.T1479C:p.D493D 0.97 1. 0.96 1. 0.92 0.99 0.9567 0.9882 0.9626 0.9980 0.9838 0.9401 0.9559 0.9675 0.96 0.98 0.94 0.97 0.95 rs214585 COSM4160404;COSM4160405 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9563 0.9910 0.9618 0.9288 0.9979 0.9849 0.9374 0.9439 0.9685 0.9651 0.9906 0.9665 0.9338 0.9963 0.9865 0.9429 0.9592 hom 2802.89 94 6 18215303 . T C 2802.89 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=59.45;MQ0=0;QD=29.82;VQSLOD=9.2532;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2836,238,0 6 18237661 18237661 C T exonic DEK synonymous SNV DEK:NM_001134709:exon7:c.G747A:p.K249K,DEK:NM_003472:exon8:c.G849A:p.K283K 0.16 0.029 0.11 0.25 0.21 0.25 0.1990 0.0576 0.1326 0.2509 0.2148 0.2127 0.2135 0.2445 0.16 0.064 0.21 0.2 0.14 rs1013062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1936 0.0568 0.1330 0.2017 0.2435 0.2115 0.2063 0.1926 0.2394 0.1719 0.0606 0.1607 0.1954 0.2419 0.2145 0.2164 0.2194 het 1343.96 110 6 18237661 . C T 1343.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.405;DP=110;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=-1.324;QD=12.22;ReadPosRankSum=1.253;VQSLOD=5.6278;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,54:110:99:1374,0,1584 6 18264210 18264210 G A exonic DEK synonymous SNV DEK:NM_001134709:exon2:c.C9T:p.A3A,DEK:NM_003472:exon2:c.C9T:p.A3A 0.16 0.031 0.11 0.25 0.21 0.25 0.2055 0.0647 0.1348 0.2561 0.2289 0.2181 0.2233 0.2525 0.16 0.067 0.21 0.076 0.13 rs11544757 COSM4160406 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1968 0.0602 0.1363 0.1975 0.2501 0.2136 0.2083 0.1979 0.2451 0.1725 0.0630 0.1591 0.1933 0.2444 0.2141 0.2158 0.2203 het 757.17 43 6 18264210 . G A 757.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9993;MQ=58.48;MQ0=0;MQRankSum=-0.037;QD=17.61;ReadPosRankSum=-0.311;VQSLOD=6.3133;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,26:43:99:787,0,447 6 24291203 24291203 T C exonic DCDC2 nonsynonymous SNV DCDC2:NM_016356:exon5:c.A661G:p.S221G,DCDC2:NM_001195610:exon6:c.A661G:p.S221G 0.52 0.054 0.67 0.78 0.67 0.61 0.6393 0.1313 0.7576 0.7965 0.7473 0.6608 0.6534 0.6630 0.48 0.15 0.65 0.45 0.71 rs2274305 COSM3761724 1(large_intestine) . . . . . . . . . . . 0.221 0.189 T 0.0 0.026 B 0.0 0.013 B 0.005 0.333 N 0.150 0.352 P -0.65 0.021 N -3.26 0.936 D -0.19 0.100 N 0.015 0.002 -0.923 0.452 T 0.293 0.665 T . . . 0.804 0.171 9.489 0.976 0.343 0.741 0.360 D c -0.793 -0.600 0.010 0.119 0.554 0.246 0 1.8 0.240 1.346 0.334 0.084 0.191 1.000 0.715 0.967 0.454 9.402 0.374 Doublecortin domain ENSG00000146038.7|ENSG00000146038.7|ENSG00000146038.7 Lung|Pancreas|Thyroid 0.6543 0.1208 0.7461 0.6783 0.8014 0.7446 0.6555 0.6535 0.6598 0.5386 0.1435 0.7036 0.6854 0.7955 0.7520 0.6685 0.6953 hom 1715.73 54 6 24291203 . T C 1715.73 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=31.77;VQSLOD=9.4236;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1749,141,0 6 24418348 24418348 G A exonic MRS2 synonymous SNV MRS2:NM_001286266:exon6:c.G723A:p.E241E,MRS2:NM_001286265:exon8:c.G873A:p.E291E,MRS2:NM_020662:exon8:c.G873A:p.E291E,MRS2:NM_001286264:exon9:c.G882A:p.E294E 0.23 0.092 0.25 0.23 0.36 0.26 0.3185 0.1204 0.1980 0.2213 0.3158 0.3905 0.3425 0.2879 0.3 0.13 0.39 0.26 0.36 rs2793422 COSM5830357;COSM3761728 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3173 0.1203 0.2102 0.5083 0.2244 0.3189 0.3799 0.3509 0.2887 0.2881 0.1305 0.2422 0.5132 0.2357 0.3147 0.3747 0.3268 het 1752.43 212 6 24418348 . G A 1752.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.288;DP=212;Dels=0.00;FS=1.734;HRun=1;HaplotypeScore=4.5449;MQ=59.60;MQ0=0;MQRankSum=0.602;QD=8.27;ReadPosRankSum=-0.194;VQSLOD=5.3130;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:134,78:212:99:1782,0,3487 6 24437445 24437445 G A exonic GPLD1 nonsynonymous SNV GPLD1:NM_001503:exon21:c.C2093T:p.T698I 0.93 0.75 0.98 1. 0.99 1. 0.9673 0.7748 0.9794 0.9993 0.9970 0.9801 0.9747 0.9989 0.91 0.79 0.98 0.91 0.98 rs1772256 . . . . . . . . . . . . . 0.231 0.182 T 0.022 0.174 B 0.024 0.190 B 0.682 0.061 N 1 0.090 P 2.3 0.659 M -0.67 0.725 T 0.03 0.066 N 0.054 0.036 -1.078 0.077 T 0.120 0.419 T . . . 0.311 0.124 5.800 0.981 0.378 0.039 0.091 N c -0.870 -0.955 0.000 0.069 0.615 0.372 0 0.563 0.164 0.427 0.209 0.100 0.199 0.000 0.063 0.000 0.016 1.948 0.031 . . . 0.9711 0.7725 0.9787 0.9669 0.9991 0.9967 0.9792 0.9772 0.9984 0.9280 0.7828 0.9797 0.9636 0.9994 0.9971 0.9814 0.9796 hom 7663.51 242 6 24437445 . G A 7663.51 Mask AC=2;AF=1.00;AN=2;DP=242;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4418;MQ=59.06;MQ0=0;QD=31.67;VQSLOD=7.3765;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:7662,635,0 6 24437458 24437458 T C exonic GPLD1 nonsynonymous SNV GPLD1:NM_001503:exon21:c.A2080G:p.M694V 0.31 0.25 0.34 0.25 0.44 0.27 0.3875 0.2769 0.2660 0.2419 0.3812 0.4659 0.4031 0.3029 0.4 0.29 0.46 0.33 0.38 rs1042303 . . . . . . . . . . . . . 0.376 0.113 T 0.0 0.026 B 0.001 0.040 B 0.005 0.332 N 0.999 0.216 P 0.895 0.225 L -0.15 0.652 T -0.26 0.112 N 0.086 0.081 -1.069 0.095 T 0.043 0.187 T . . . -0.978 0.033 0.018 0.379 0.025 0.168 0.193 N c -0.935 -0.913 0.000 0.070 0.615 0.372 0 0.898 0.183 0.789 0.264 1.061 0.807 0.682 0.282 0.071 0.176 4.862 0.129 . ENSG00000112293.10|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8 Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Whole_Blood 0.3850 0.2744 0.2796 0.5753 0.2455 0.3864 0.4568 0.4186 0.3049 0.3803 0.2773 0.3141 0.5927 0.2627 0.3800 0.4512 0.3992 het 2534.50 242 6 24437458 . T C 2534.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.965;DP=242;Dels=0.00;FS=0.480;HRun=0;HaplotypeScore=7.7941;MQ=58.92;MQ0=0;MQRankSum=-0.961;QD=10.47;ReadPosRankSum=-0.837;VQSLOD=3.8984;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:142,99:242:99:2564,0,3932 6 24489652 24489652 C T exonic GPLD1 nonsynonymous SNV GPLD1:NM_001503:exon1:c.G88A:p.V30I 0.27 0.31 0.21 0.17 0.33 0.29 0.2995 0.3106 0.1903 0.1849 0.3337 0.3298 0.2843 0.2934 0.33 0.31 0.34 0.21 0.33 rs1126617 COSM4003824;COSM4003823 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.949 0.021 T 0.004 0.135 B 0.002 0.139 B 0.188 0.169 N 1 0.090 P -0.165 0.043 N 1.12 0.387 T 0.05 0.064 N 0.047 0.028 -1.016 0.250 T 0.010 0.039 T . . . -1.649 0.014 0.002 0.229 0.009 0.005 0.022 N c -1.908 -1.907 1.000 0.402 0.615 0.372 0 -6.76 0.016 -0.842 0.044 -1.129 0.018 0.008 0.178 0.037 0.154 14.647 0.682 Phospholipase C/D ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112293.10|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112293.10|ENSG00000112294.8 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2949 0.3063 0.1960 0.2851 0.1848 0.3360 0.3340 0.2855 0.2918 0.3201 0.3077 0.2017 0.2980 0.1857 0.3456 0.3435 0.3116 het 1517.63 121 6 24489652 . C T 1517.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.590;DP=121;Dels=0.00;FS=0.818;HRun=0;HaplotypeScore=2.3294;MQ=58.85;MQ0=0;MQRankSum=-0.739;QD=12.54;ReadPosRankSum=-0.127;VQSLOD=6.3355;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,58:121:99:1548,0,1681 6 24503590 24503590 C T exonic ALDH5A1 nonsynonymous SNV ALDH5A1:NM_001080:exon3:c.C538T:p.H180Y,ALDH5A1:NM_170740:exon3:c.C538T:p.H180Y 0.31 0.47 0.22 0.17 0.32 0.32 0.3195 0.4463 0.2063 0.1857 0.3294 0.3349 0.2954 0.3239 0.37 0.44 0.34 0.28 0.33 rs2760118 COSM4003827 1(haematopoietic_and_lymphoid_tissue);11(soft_tissue);1(pancreas) other|Benign not_specified|Succinate-semialdehyde_dehydrogenase_deficiency RCV000116307.3|RCV000375656.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268631:271980:ORPHA22:49748000 . . . . . . 0.134 0.264 T 0.0 0.026 B 0.0 0.013 B 0.599 0.110 N 1 0.090 P 0.6 0.156 N -0.98 0.758 T -0.35 0.129 N 0.019 0.010 -1.093 0.050 T 0.080 0.317 T . . . 0.507 0.143 7.486 0.955 0.265 0.024 0.067 N c -1.122 -1.124 0.319 0.194 0.693 0.558 0 -0.044 0.131 0.902 0.279 0.151 0.238 0.053 0.213 0.143 0.203 1.812 0.029 Aldehyde dehydrogenase N-terminal domain|Aldehyde dehydrogenase domain|Aldehyde/histidinol dehydrogenase ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112293.10|ENSG00000112294.8 Adipose_Subcutaneous|Colon_Transverse|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.3105 0.4479 0.2115 0.2424 0.1862 0.3374 0.3381 0.3024 0.3235 0.3568 0.4441 0.2124 0.2517 0.1885 0.3376 0.3413 0.3163 het 1012.08 93 6 24503590 . C T 1012.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.122;DP=93;Dels=0.00;FS=2.890;HRun=0;HaplotypeScore=1.5810;MQ=59.10;MQ0=0;MQRankSum=0.404;QD=10.88;ReadPosRankSum=-0.412;VQSLOD=6.6630;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,37:93:99:1042,0,1482 6 24551664 24551664 T C exonic KIAA0319 nonsynonymous SNV KIAA0319:NM_001252328:exon16:c.A1271G:p.Y424C,KIAA0319:NM_001168376:exon19:c.A2903G:p.Y968C,KIAA0319:NM_001350404:exon19:c.A3020G:p.Y1007C,KIAA0319:NM_001350405:exon19:c.A2939G:p.Y980C,KIAA0319:NM_001350406:exon19:c.A2903G:p.Y968C,KIAA0319:NM_001168375:exon20:c.A3038G:p.Y1013C,KIAA0319:NM_001350403:exon20:c.A3038G:p.Y1013C,KIAA0319:NM_014809:exon20:c.A3038G:p.Y1013C,KIAA0319:NM_001168374:exon21:c.A3011G:p.Y1004C,KIAA0319:NM_001350409:exon21:c.A2582G:p.Y861C,KIAA0319:NM_001350410:exon21:c.A2582G:p.Y861C 0.097 0.083 0.092 0.076 0.13 0.11 0.1201 0.0932 0.1028 0.0844 0.1227 0.1328 0.1126 0.1162 0.12 0.094 0.13 0.098 0.11 rs807534 COSM4160415 7(soft_tissue);1(thyroid) . . . . . . . . . . . 0.202 0.224 T 1.0 0.899 D 0.939 0.657 D 0.022 0.267 N 0.127 0.588 P 2.44 0.710 M 3.23 0.070 T -2.68 0.572 D 0.159 0.453 -1.067 0.102 T 0.021 0.088 T . . . 4.011 0.539 23.6 0.996 0.718 0.805 0.398 D c 0.167 0.091 0.004 0.106 0.554 0.246 0 0.197 0.144 1.663 0.368 0.045 0.158 1.000 0.715 0.970 0.461 10.401 0.432 . ENSG00000124532.10|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8|ENSG00000112294.8 Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.1188 0.0924 0.0955 0.0734 0.0888 0.1252 0.1379 0.1168 0.1150 0.1191 0.0930 0.0776 0.0867 0.0988 0.1271 0.1377 0.1181 het 1613.96 116 6 24551664 . T C 1613.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.285;DP=116;Dels=0.00;FS=1.549;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-1.981;QD=13.91;ReadPosRankSum=0.373;VQSLOD=5.6493;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,60:116:99:1644,0,1400 6 24551729 24551729 T C exonic KIAA0319 nonsynonymous SNV KIAA0319:NM_001350407:exon19:c.A2882G:p.K961R,KIAA0319:NM_001350408:exon19:c.A2882G:p.K961R 0.097 0.083 0.095 0.076 0.13 0.11 0.1204 0.0936 0.1033 0.0845 0.1227 0.1331 0.1126 0.1164 0.12 0.094 0.13 0.098 0.11 rs807535 COSM4160416 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1189 0.0925 0.0960 0.0734 0.0888 0.1250 0.1380 0.1164 0.1150 0.1194 0.0937 0.0766 0.0861 0.0977 0.1272 0.1381 0.1181 het 1391.85 109 6 24551729 . T C 1391.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.397;DP=109;Dels=0.00;FS=0.732;HRun=0;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;MQRankSum=2.083;QD=12.77;ReadPosRankSum=-1.119;VQSLOD=4.8230;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,56:109:99:1422,0,1353 6 24559281 24559281 A G exonic KIAA0319 synonymous SNV KIAA0319:NM_001252328:exon13:c.T927C:p.A309A,KIAA0319:NM_001168376:exon16:c.T2559C:p.A853A,KIAA0319:NM_001350404:exon16:c.T2676C:p.A892A,KIAA0319:NM_001350405:exon16:c.T2595C:p.A865A,KIAA0319:NM_001350406:exon16:c.T2559C:p.A853A,KIAA0319:NM_001168375:exon17:c.T2694C:p.A898A,KIAA0319:NM_001168377:exon17:c.T2694C:p.A898A,KIAA0319:NM_001350403:exon17:c.T2694C:p.A898A,KIAA0319:NM_001350407:exon17:c.T2694C:p.A898A,KIAA0319:NM_001350408:exon17:c.T2694C:p.A898A,KIAA0319:NM_014809:exon17:c.T2694C:p.A898A,KIAA0319:NM_001168374:exon18:c.T2667C:p.A889A,KIAA0319:NM_001350409:exon18:c.T2238C:p.A746A,KIAA0319:NM_001350410:exon18:c.T2238C:p.A746A 0.17 0.14 0.17 0.11 0.22 0.24 0.2227 0.1574 0.2125 0.1504 0.2276 0.2330 0.2067 0.2639 0.2 0.15 0.22 0.13 0.13 rs807541 COSM4160417 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2015 0.1419 0.1813 0.1081 0.1348 0.2107 0.2229 0.1899 0.2382 0.1894 0.1377 0.1459 0.1126 0.1403 0.2118 0.2228 0.2 het 144.41 23 6 24559281 . A G 144.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.840;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9987;MQ=60.00;MQ0=0;MQRankSum=0.234;QD=6.28;ReadPosRankSum=-1.637;VQSLOD=4.6629;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,7:23:99:174,0,513 6 24596478 24596478 T G exonic KIAA0319 nonsynonymous SNV KIAA0319:NM_001168376:exon2:c.A289C:p.T97P,KIAA0319:NM_001350404:exon2:c.A406C:p.T136P,KIAA0319:NM_001350406:exon2:c.A289C:p.T97P,KIAA0319:NM_001168375:exon3:c.A424C:p.T142P,KIAA0319:NM_001168377:exon3:c.A424C:p.T142P,KIAA0319:NM_001350403:exon3:c.A424C:p.T142P,KIAA0319:NM_001350405:exon3:c.A424C:p.T142P,KIAA0319:NM_001350407:exon3:c.A424C:p.T142P,KIAA0319:NM_001350408:exon3:c.A424C:p.T142P,KIAA0319:NM_014809:exon3:c.A424C:p.T142P,KIAA0319:NM_001168374:exon4:c.A397C:p.T133P 0.94 0.94 0.94 0.99 0.9 0.93 0.9144 0.9246 0.9561 0.9920 0.9090 0.8910 0.9018 0.9358 0.9 0.92 0.9 0.97 0.93 rs4576240 COSM1685395 1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.036 0.246 N 1 0.090 P -2.045 0.002 N 3.41 0.056 T 1.59 0.007 N 0.059 0.176 -0.917 0.459 T 0.002 0.006 T . . . -1.321 0.021 0.004 0.558 0.053 0.027 0.072 N c -1.242 -1.068 0.038 0.144 0.554 0.283 0 2.45 0.288 0.800 0.265 0.060 0.166 0.908 0.314 0.994 0.587 2.414 0.041 MANSC domain|Seven cysteines\x2c N-terminal ENSG00000112308.8|ENSG00000137261.9|ENSG00000137261.9 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.9176 0.9268 0.9517 0.9123 0.9912 0.9084 0.8924 0.9162 0.9346 0.9128 0.9265 0.9463 0.9205 0.9957 0.9212 0.8916 0.9155 hom 4620.61 150 6 24596478 . T G 4620.61 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5519;MQ=59.85;MQ0=0;QD=30.80;VQSLOD=8.4778;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4620,355,0 6 24653283 24653283 T C exonic TDP2 synonymous SNV TDP2:NM_016614:exon6:c.A735G:p.L245L 0.012 0.003 0.02 0.001 0.032 0.0092 0.0267 0.0070 0.0142 0.0002 0.0493 0.0376 0.0242 0.0088 0.028 0.0089 0.037 0.011 0.0082 rs11559067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0262 0.0063 0.0158 0.0280 0.0003 0.0471 0.0363 0.0306 0.0086 0.0254 0.0074 0.0215 0.0331 0 0.0398 0.0349 0.0327 het 4099.38 250 6 24653283 . T C 4099.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.548;DP=250;DS;Dels=0.00;FS=4.768;HRun=0;HaplotypeScore=3.6154;MQ=59.18;MQ0=0;MQRankSum=0.408;QD=16.40;ReadPosRankSum=-1.092;VQSLOD=4.8142;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3437,0,3692 6 24653376 24653376 G A exonic TDP2 synonymous SNV TDP2:NM_016614:exon6:c.C642T:p.N214N 0.81 0.93 0.84 0.87 0.66 0.7 0.7393 0.9069 0.8587 0.8476 0.6269 0.6974 0.7291 0.7084 0.76 0.9 0.7 0.81 0.44 rs1129644 COSM4155142;COSM4155143;COSM4155141 1(bone);1(kidney);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7381 0.9124 0.8468 0.7072 0.8437 0.6304 0.6980 0.7283 0.7083 0.7576 0.9091 0.8469 0.6755 0.8453 0.6302 0.6904 0.6955 het 2692.75 229 6 24653376 . G A 2692.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.285;DP=229;DS;Dels=0.00;FS=11.580;HRun=0;HaplotypeScore=4.2383;MQ=59.45;MQ0=0;MQRankSum=0.081;QD=11.76;ReadPosRankSum=-0.564;VQSLOD=4.4722;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,104:229:99:2723,0,3594 6 24698215 24698215 G A exonic ACOT13 synonymous SNV ACOT13:NM_018473:exon2:c.G186A:p.T62T,ACOT13:NM_001160094:exon3:c.G117A:p.T39T 0.15 0.13 0.16 0.06 0.25 0.14 0.2091 0.1508 0.1250 0.0469 0.2646 0.2579 0.2334 0.1690 0.22 0.16 0.26 0.18 0.26 rs7765904 COSM3761729;COSM5830358 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2055 0.1490 0.1255 0.2279 0.0460 0.2668 0.2564 0.2285 0.1692 0.2206 0.1539 0.1396 0.2233 0.0432 0.2574 0.2731 0.2444 het 1480.99 113 6 24698215 . G A 1480.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.208;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.08;MQ0=0;MQRankSum=-1.777;QD=13.11;ReadPosRankSum=1.662;VQSLOD=5.2328;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,57:113:99:1511,0,1413 6 25420344 25420344 C G exonic CARMIL1 synonymous SNV CARMIL1:NM_001173977:exon3:c.C141G:p.V47V,CARMIL1:NM_017640:exon3:c.C141G:p.V47V 0.95 0.86 0.96 1. 0.94 1. 0.9525 0.8730 0.9752 1 0.9696 0.9407 0.97 0.9990 0.92 0.88 0.93 0.95 . rs913455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9545 0.8730 0.9738 0.9752 1 0.9688 0.9357 0.9589 0.9989 0.9268 0.8825 0.9547 0.9834 1 0.9565 0.9338 0.9460 hom 5385.26 172 6 25420344 . C G 5385.26 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7128;MQ=58.43;MQ0=0;QD=31.31;VQSLOD=8.9158;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5384,415,0 6 25426768 25426768 G A exonic CARMIL1 nonsynonymous SNV CARMIL1:NM_001173977:exon4:c.G229A:p.V77I,CARMIL1:NM_017640:exon4:c.G229A:p.V77I 0.16 0.09 0.15 0.23 0.15 0.21 0.1604 0.0887 0.2064 0.2445 0.1912 0.1449 0.1629 0.1778 0.12 0.077 0.14 0.076 . rs9358856 COSM4003834;COSM4003833 2(haematopoietic_and_lymphoid_tissue);9(soft_tissue) . . . . . . . . . . . 0.226 0.185 T 0.0 0.026 B 0.0 0.013 B 0.699 0.062 N 1 0.090 P -0.55 0.024 N 2.5 0.144 T -0.62 0.183 N 0.013 0.002 -0.925 0.449 T 0.004 0.014 T . . . -0.155 0.080 1.356 0.832 0.141 0.002 0.012 N c -1.560 -1.518 0.123 0.169 0.706 0.609 0 -1.37 0.085 0.281 0.184 -0.804 0.032 0.000 0.063 0.426 0.258 1.819 0.029 . . . 0.1619 0.0855 0.1977 0.1510 0.2401 0.1849 0.1422 0.1594 0.1758 0.1415 0.0852 0.1583 0.1722 0.2288 0.1928 0.1493 0.1773 het 1063.29 98 6 25426768 . G A 1063.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.029;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=59.29;MQ0=0;MQRankSum=0.749;QD=10.85;ReadPosRankSum=-0.604;VQSLOD=6.7733;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,46:98:99:1093,0,1208 6 25600968 25600968 G A exonic CARMIL1 synonymous SNV CARMIL1:NM_001173977:exon33:c.G3546A:p.A1182A,CARMIL1:NM_017640:exon33:c.G3546A:p.A1182A 0.41 0.34 0.42 0.37 0.46 0.46 0.4811 0.4063 0.4522 0.4242 0.4398 0.5023 0.4873 0.5169 0.42 0.34 0.46 0.37 . rs10456324 COSM1131966 1(prostate);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4340 0.3609 0.4019 0.4554 0.3713 0.4073 0.4641 0.4403 0.4619 0.4137 0.3539 0.3876 0.3974 0.3975 0.3895 0.4571 0.4232 het 244.93 23 6 25600968 . G A 244.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.954;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.32;MQ0=0;MQRankSum=-0.031;QD=10.65;ReadPosRankSum=-0.154;VQSLOD=6.6339;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,11:23:99:275,0,295 6 25605091 25605091 G A exonic CARMIL1 nonsynonymous SNV CARMIL1:NM_001173977:exon34:c.G3604A:p.G1202S,CARMIL1:NM_017640:exon34:c.G3604A:p.G1202S 0.8 0.79 0.77 0.87 0.74 0.83 0.7898 0.8071 0.7735 0.8740 0.7090 0.7773 0.7781 0.8279 0.77 0.8 0.76 0.79 . rs1012899 COSM4160429 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.193 0.168 N 1 0.090 P -0.665 0.020 N 2.54 0.139 T 0.97 0.015 N 0.016 0.003 -0.923 0.451 T 0.004 0.014 T . . . 0.879 0.178 9.942 0.136 0.003 0.011 0.039 N c -1.096 -0.944 0.982 0.303 0.706 0.609 0 4.39 0.520 1.291 0.327 0.244 0.267 0.770 0.291 0.012 0.117 8.421 0.317 . . . 0.7676 0.7973 0.7491 0.7638 0.8599 0.6861 0.7572 0.7548 0.8250 0.7661 0.7930 0.7644 0.7450 0.8660 0.6693 0.7647 0.7337 het 93 13 6 25605091 . G A 93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DP=13;Dels=0.00;FS=2.276;HRun=0;HaplotypeScore=0.9832;MQ=56.71;MQ0=0;MQRankSum=-0.437;QD=7.15;ReadPosRankSum=1.092;VQSLOD=2.9219;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,5:13:99:123,0,236 6 25726621 25726621 C T exonic HIST1H2AA synonymous SNV HIST1H2AA:NM_170745:exon1:c.G135A:p.G45G 0.22 0.32 0.2 0.11 0.25 0.21 0.2307 0.2985 0.1694 0.0795 0.2055 0.2524 0.2219 0.2334 0.28 0.31 0.26 0.28 0.23 rs9467583 COSM1685422 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2265 0.3016 0.1727 0.2613 0.0766 0.2003 0.2551 0.2464 0.2326 0.2503 0.3014 0.1874 0.2649 0.0802 0.2058 0.2550 0.2133 het 1918.37 132 6 25726621 . C T 1918.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.178;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5756;MQ=58.90;MQ0=0;MQRankSum=-0.177;QD=14.53;ReadPosRankSum=0.754;VQSLOD=5.9641;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,69:132:99:1948,0,1671 6 25726675 25726675 G A exonic HIST1H2AA synonymous SNV HIST1H2AA:NM_170745:exon1:c.C81T:p.P27P 0.35 0.098 0.44 0.68 0.29 0.33 0.3287 0.1304 0.5063 0.7062 0.4133 0.2771 0.2946 0.3047 0.23 0.14 0.28 0.23 0.25 rs9358871 COSM4966699 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3400 0.1270 0.4889 0.1579 0.7082 0.4113 0.2804 0.3021 0.3006 0.2895 0.1343 0.4463 0.1722 0.7061 0.4066 0.2977 0.3449 het 1850.73 133 6 25726675 . G A 1850.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.945;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3951;MQ=59.40;MQ0=0;MQRankSum=-0.928;QD=13.92;ReadPosRankSum=1.435;VQSLOD=3.6008;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,63:133:99:1881,0,1781 6 25727265 25727265 C T exonic HIST1H2BA synonymous SNV HIST1H2BA:NM_170610:exon1:c.C129T:p.I43I 0.35 0.098 0.44 0.68 0.29 0.33 0.3273 0.1296 0.5049 0.7050 0.4129 0.2759 0.2942 0.3044 0.23 0.14 0.28 0.24 0.24 rs4712960 COSM4160431 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3389 0.1275 0.4885 0.1570 0.7080 0.4111 0.2798 0.3024 0.3007 0.2897 0.1350 0.4463 0.1722 0.7060 0.4061 0.2980 0.3442 het 1933.33 135 6 25727265 . C T 1933.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.870;DP=135;Dels=0.00;FS=0.642;HRun=1;HaplotypeScore=6.6279;MQ=59.46;MQ0=0;MQRankSum=0.887;QD=14.32;ReadPosRankSum=0.967;VQSLOD=4.7617;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,70:135:99:1963,0,1645 6 25727334 25727334 C T exonic HIST1H2BA synonymous SNV HIST1H2BA:NM_170610:exon1:c.C198T:p.S66S 0.35 0.098 0.44 0.68 0.29 0.33 0.3273 0.1297 0.5049 0.7048 0.4128 0.2761 0.2930 0.3044 0.23 0.14 0.28 0.24 0.25 rs4712961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3390 0.1276 0.4886 0.1572 0.7080 0.4111 0.2799 0.3023 0.3008 0.2896 0.1349 0.4462 0.1722 0.7061 0.4057 0.2978 0.3436 het 1999.26 136 6 25727334 . C T 1999.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.607;DP=136;Dels=0.00;FS=4.094;HRun=2;HaplotypeScore=5.7692;MQ=59.19;MQ0=0;MQRankSum=-0.157;QD=14.70;ReadPosRankSum=0.598;VQSLOD=4.9432;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,73:136:99:2029,0,1760 6 25727517 25727517 G A exonic HIST1H2BA synonymous SNV HIST1H2BA:NM_170610:exon1:c.G381A:p.K127K 0.35 0.098 0.44 0.68 0.29 0.33 0.3324 0.1304 0.5067 0.7039 0.4129 0.2786 0.3007 0.3250 0.23 0.14 0.28 0.24 0.24 rs9358872 COSM4003835 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3407 0.1274 0.4873 0.1583 0.7066 0.4124 0.2798 0.3029 0.3026 0.2896 0.1352 0.4450 0.1722 0.7072 0.4055 0.2974 0.3442 het 1225.46 105 6 25727517 . G A 1225.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.222;DP=105;Dels=0.00;FS=0.757;HRun=2;HaplotypeScore=1.7998;MQ=58.66;MQ0=0;MQRankSum=-0.330;QD=11.67;ReadPosRankSum=1.170;VQSLOD=6.1512;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,51:105:99:1255,0,1421 6 25769349 25769349 T C exonic SLC17A4 synonymous SNV SLC17A4:NM_005495:exon3:c.T228C:p.A76A,SLC17A4:NM_001286121:exon4:c.T66C:p.A22A 0.88 0.69 0.9 0.99 0.91 0.97 0.9051 0.7227 0.9396 0.9810 0.9516 0.8993 0.9262 0.9594 0.83 0.72 0.89 0.84 0.89 rs1892251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9097 0.7252 0.9344 0.9053 0.9819 0.9509 0.8948 0.9055 0.9603 0.8584 0.7277 0.9177 0.8974 0.9746 0.9347 0.8968 0.9083 hom 3949.72 133 6 25769349 . T C 3949.72 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.0922;MQ=58.77;MQ0=0;QD=29.70;VQSLOD=8.2313;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3949,298,0 6 25773809 25773809 A G exonic SLC17A4 synonymous SNV SLC17A4:NM_005495:exon8:c.A894G:p.L298L,SLC17A4:NM_001286121:exon9:c.A732G:p.L244L 0.097 0.029 0.11 0.055 0.14 0.17 0.1224 0.0377 0.0847 0.0297 0.1044 0.1388 0.1333 0.1906 0.11 0.041 0.15 0.14 0.12 rs2275906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1228 0.0386 0.0902 0.2164 0.0277 0.1018 0.1352 0.1457 0.1896 0.0964 0.0418 0.1002 0.2053 0.0268 0.0859 0.1354 0.1018 het 1357.89 76 6 25773809 . A G 1357.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.738;DP=76;Dels=0.00;FS=0.884;HRun=1;HaplotypeScore=1.9960;MQ=59.70;MQ0=0;MQRankSum=2.124;QD=17.87;ReadPosRankSum=-0.190;VQSLOD=5.3963;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,45:76:99:1388,0,815 6 25776949 25776949 G A exonic SLC17A4 nonsynonymous SNV SLC17A4:NM_005495:exon9:c.G1114A:p.A372T,SLC17A4:NM_001286121:exon10:c.G952A:p.A318T 0.26 0.053 0.28 0.17 0.42 0.45 0.3671 0.0985 0.2492 0.1288 0.3422 0.4407 0.3998 0.4542 0.33 0.11 0.44 0.28 0.38 rs11754288 COSM5654058;COSM5654057 1(haematopoietic_and_lymphoid_tissue) . . . . . Cardiovascular disease risk factors . .08 21943158 rs11754288 4E-9 0.491 0.116 T 0.103 0.273 B 0.038 0.328 B 0.078 0.211 N 1 0.090 P 0.525 0.136 N 0.31 0.619 T -0.87 0.316 N 0.066 0.106 -1.064 0.109 T 0.038 0.163 T . . . 1.669 0.262 14.23 0.973 0.328 0.036 0.087 N c -0.948 -0.927 0.001 0.086 0.487 0.133 0 -2.34 0.063 0.465 0.216 0.100 0.199 0.000 0.063 0.804 0.337 4.082 0.093 Major facilitator superfamily domain ENSG00000261584.1|ENSG00000124568.6|ENSG00000124564.13|ENSG00000272462.2|ENSG00000124564.13 Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Skin_Sun_Exposed_Lower_leg|Testis 0.3658 0.0941 0.2596 0.4945 0.1295 0.3516 0.4372 0.3938 0.4547 0.3034 0.0991 0.2840 0.5 0.1261 0.3323 0.4289 0.3432 het 1914.91 146 6 25776949 . G A 1914.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.081;DP=146;Dels=0.00;FS=2.983;HRun=0;HaplotypeScore=5.6795;MQ=58.65;MQ0=0;MQRankSum=-1.304;QD=13.12;ReadPosRankSum=-0.133;VQSLOD=4.5678;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,75:146:99:1945,0,2087 6 25777185 25777185 T G exonic SLC17A4 synonymous SNV SLC17A4:NM_005495:exon10:c.T1266G:p.P422P,SLC17A4:NM_001286121:exon11:c.T1104G:p.P368P 0.0004 . . . 0.002 . 0.0006 0 8.706e-05 0 0.0015 0.0009 0 0 0.001 . 0.0015 . . rs41271825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 6.552e-05 3.002e-05 0 0 0.0008 0.0011 0.0006 0 0.0008 0.0005 0 0 0 0.0011 0.0011 0.0010 het 1259.38 105 6 25777185 . T G 1259.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.830;DP=105;Dels=0.00;FS=2.647;HRun=0;HaplotypeScore=0.8941;MQ=58.80;MQ0=0;MQRankSum=-0.670;QD=11.99;ReadPosRankSum=1.087;VQSLOD=5.2899;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,51:105:99:1289,0,1380 6 25813150 25813150 G A exonic SLC17A1 nonsynonymous SNV SLC17A1:NM_005074:exon8:c.C806T:p.T269I 0.72 0.92 0.7 0.82 0.56 0.52 0.6161 0.8749 0.7394 0.8653 0.6408 0.5425 0.5804 0.5259 0.65 0.86 0.55 0.66 0.56 rs1165196 . . . . . . . Urate levels . -6.21 20884846 rs1165196 5E-25 0.371 0.115 T 0.0 0.026 B 0.002 0.063 B 0.055 0.021 N 1 0.090 P -0.945 0.013 N 0.51 0.555 T 2.88 0.002 N 0.036 0.016 -1.024 0.226 T 0.021 0.088 T . . . -0.174 0.078 1.244 0.322 0.018 0.000 0.001 N c -1.256 -1.182 0.004 0.103 0.487 0.133 0 3.67 0.411 1.958 0.398 0.244 0.267 0.003 0.159 0.000 0.016 5.944 0.183 Major facilitator superfamily domain ENSG00000124568.6|ENSG00000124564.13|ENSG00000272462.2|ENSG00000272462.2|ENSG00000124564.13|ENSG00000112343.8|ENSG00000112343.8 Adrenal_Gland|Adrenal_Gland|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.6165 0.8797 0.7261 0.4715 0.8639 0.6279 0.5460 0.5867 0.5261 0.6746 0.8751 0.6986 0.4834 0.8665 0.6483 0.5484 0.6327 het 844.44 70 6 25813150 . G A 844.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.231;DP=70;Dels=0.00;FS=2.102;HRun=1;HaplotypeScore=2.3683;MQ=58.26;MQ0=0;MQRankSum=0.343;QD=12.06;ReadPosRankSum=-0.788;VQSLOD=5.7777;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:874,0,983 6 25849620 25849620 A G exonic SLC17A3 synonymous SNV SLC17A3:NM_006632:exon10:c.T1110C:p.S370S,SLC17A3:NM_001098486:exon11:c.T1344C:p.S448S 0.7 0.92 0.69 0.81 0.54 0.48 0.6019 0.8709 0.7257 0.8622 0.5993 0.5286 0.5588 0.5044 0.64 0.85 0.53 0.65 0.55 rs942379 COSM5482397;COSM5482398 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5981 0.8755 0.7152 0.4583 0.8580 0.5871 0.5285 0.5641 0.4978 0.6583 0.8689 0.6882 0.4768 0.8597 0.6064 0.5307 0.6143 het 438.53 42 6 25849620 . A G 438.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.459;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9461;MQ=59.11;MQ0=0;MQRankSum=0.780;QD=10.44;ReadPosRankSum=0.629;VQSLOD=6.3252;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,21:42:99:469,0,554 6 25914801 25914801 G A exonic SLC17A2 synonymous SNV SLC17A2:NM_001286125:exon9:c.C1161T:p.G387G 0.4 0.14 0.46 0.7 0.4 0.4 0.4112 0.1877 0.5015 0.7115 0.4206 0.3900 0.4021 0.4096 0.32 0.19 0.39 0.26 0.34 rs2071299 COSM4160435;COSM4160436 1(thyroid) . . . . . . . . . . . 0.531 0.070 T . . . . . . . . . 1.000 0.323 P . . . 0.3 0.588 T -0.2 0.102 N 0.052 0.034 -1.033 0.195 T 0.024 0.101 T . . . 1.669 0.262 14.23 0.831 0.140 0.033 0.082 N c 0.208 -0.081 0.992 0.327 0.487 0.133 0 1.68 0.231 1.100 0.304 1.048 0.713 0.052 0.213 0.982 0.498 3.143 0.060 Major facilitator superfamily domain ENSG00000272462.2|ENSG00000272462.2|ENSG00000272810.1|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272810.1|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000112343.8|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272810.1|ENSG00000272462.2|ENSG00000272810.1|ENSG00000272462.2|ENSG00000272810.1|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272810.1|ENSG00000272462.2|ENSG00000112337.6|ENSG00000234816.2|ENSG00000112343.8|ENSG00000272558.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid 0.4151 0.1745 0.4932 0.3710 0.7082 0.4119 0.3891 0.3901 0.4006 0.3558 0.1787 0.4581 0.3675 0.7102 0.4114 0.3982 0.4133 het 661.71 51 6 25914801 . G A 661.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.072;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9979;MQ=59.14;MQ0=0;MQRankSum=0.143;QD=12.97;ReadPosRankSum=-0.219;VQSLOD=6.7331;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,29:51:99:692,0,630 6 25916979 25916979 C T exonic SLC17A2 synonymous SNV SLC17A2:NM_001286123:exon7:c.G864A:p.L288L,SLC17A2:NM_001286125:exon7:c.G864A:p.L288L,SLC17A2:NM_005835:exon8:c.G864A:p.L288L 0.4 0.14 0.46 0.7 0.4 0.4 0.4071 0.1809 0.4975 0.7119 0.4184 0.3876 0.3940 0.4016 0.32 0.19 0.39 0.26 0.35 rs1865760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4155 0.1744 0.4938 0.3708 0.7090 0.4124 0.3895 0.3900 0.4008 0.3556 0.1789 0.4570 0.3675 0.7085 0.4103 0.3979 0.4112 het 1624.48 145 6 25916979 . C T 1624.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.612;DP=145;Dels=0.00;FS=13.944;HRun=0;HaplotypeScore=6.8434;MQ=59.44;MQ0=0;MQRankSum=0.085;QD=11.20;ReadPosRankSum=-1.141;VQSLOD=3.3473;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,66:145:99:1654,0,2102 6 25967068 25967068 C T exonic TRIM38 synonymous SNV TRIM38:NM_006355:exon3:c.C318T:p.D106D 0.096 0.019 0.12 0.067 0.22 0.09 0.1712 0.0432 0.1141 0.0797 0.2574 0.2241 0.1482 0.0927 0.17 0.05 0.23 0.065 0.17 rs2009610 COSM3761734 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1715 0.0400 0.1198 0.1259 0.0721 0.2524 0.2301 0.1773 0.0932 0.1734 0.0453 0.1181 0.1258 0.0721 0.2509 0.2431 0.2026 het 944.89 95 6 25967068 . C T 944.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.050;DP=95;Dels=0.00;FS=5.695;HRun=0;HaplotypeScore=2.6377;MQ=59.76;MQ0=0;MQRankSum=0.502;QD=9.95;ReadPosRankSum=0.395;VQSLOD=5.2858;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,36:95:99:975,0,1642 6 26027433 26027433 G A exonic HIST1H4B synonymous SNV HIST1H4B:NM_003544:exon1:c.C48T:p.A16A 0.39 0.13 0.45 0.71 0.4 0.38 0.4047 0.1849 0.4670 0.7288 0.3979 0.3947 0.3877 0.3732 0.33 0.19 0.41 0.26 0.35 rs3752419 COSM4160437 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4126 0.1809 0.4684 0.3195 0.7230 0.4025 0.4022 0.3920 0.3715 0.3639 0.1873 0.4451 0.3467 0.7159 0.3997 0.4132 0.4134 het 2163.74 177 6 26027433 . G A 2163.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.725;DP=177;Dels=0.00;FS=2.648;HRun=0;HaplotypeScore=3.9098;MQ=58.41;MQ0=1;MQRankSum=1.038;QD=12.22;ReadPosRankSum=-0.145;VQSLOD=5.6622;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,85:177:99:2194,0,2437 6 26033506 26033506 G A exonic HIST1H2AB synonymous SNV HIST1H2AB:NM_003513:exon1:c.C291T:p.L97L 0.78 0.94 0.72 0.86 0.67 0.64 0.7049 0.9120 0.6661 0.8852 0.6624 0.6698 0.7059 0.6655 0.76 0.9 0.69 0.75 0.72 rs2230655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7041 0.9174 0.6729 0.7253 0.8758 0.6659 0.6746 0.6916 0.6659 0.7622 0.9149 0.6921 0.7033 0.8745 0.6846 0.6864 0.7306 het 2962.85 215 6 26033506 . G A 2962.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.095;DP=215;Dels=0.00;FS=4.716;HRun=2;HaplotypeScore=3.9720;MQ=58.81;MQ0=0;MQRankSum=1.657;QD=13.78;ReadPosRankSum=-1.751;VQSLOD=4.5989;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:105,110:215:99:2993,0,2687 6 26045929 26045929 T C exonic HIST1H3C synonymous SNV HIST1H3C:NM_003531:exon1:c.T291C:p.C97C 0.71 0.71 0.69 0.84 0.65 0.62 0.6713 0.7166 0.6406 0.8684 0.6583 0.6559 0.6788 0.6280 0.69 0.72 0.67 0.6 0.67 rs3752416 COSM4160438 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6744 0.7214 0.6478 0.6965 0.8615 0.6635 0.6610 0.6614 0.6269 0.6989 0.7176 0.6591 0.6733 0.8665 0.6825 0.6759 0.7071 het 2248.01 193 6 26045929 . T C 2248.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5796;MQ=58.64;MQ0=0;MQRankSum=0.755;QD=11.65;ReadPosRankSum=-0.690;VQSLOD=5.3887;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,95:193:99:2278,0,2670 6 26056072 26056072 G C exonic HIST1H1C synonymous SNV HIST1H1C:NM_005319:exon1:c.C585G:p.P195P 0.12 0.048 0.12 0.16 0.2 0.075 0.1682 0.0656 0.1093 0.1575 0.2166 0.2124 0.1443 0.0823 0.17 0.072 0.22 0.076 0.16 rs8384 COSM3761736 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1683 0.0621 0.1149 0.1212 0.1551 0.2169 0.2190 0.1709 0.0826 0.1756 0.0666 0.1134 0.1258 0.1726 0.2149 0.2331 0.2 het 1654.88 116 6 26056072 . G C 1654.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.898;DP=116;Dels=0.00;FS=4.703;HRun=0;HaplotypeScore=3.5864;MQ=59.28;MQ0=0;MQRankSum=2.391;QD=14.27;ReadPosRankSum=0.737;VQSLOD=3.9924;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,68:116:99:1685,0,1267 6 26056549 26056549 A G exonic HIST1H1C synonymous SNV HIST1H1C:NM_005319:exon1:c.T108C:p.S36S 0.76 0.93 0.67 0.86 0.64 0.63 0.6806 0.8922 0.6386 0.8844 0.6559 0.6431 0.6685 0.6349 0.73 0.88 0.66 0.74 0.6 rs10425 COSM4160439 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6790 0.8975 0.6447 0.6672 0.8745 0.6598 0.6474 0.6625 0.6338 0.7413 0.8936 0.6611 0.6556 0.8704 0.6794 0.6611 0.7121 het 1710.45 118 6 26056549 . A G 1710.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.849;DP=118;Dels=0.00;FS=3.036;HRun=1;HaplotypeScore=3.6554;MQ=59.65;MQ0=0;MQRankSum=1.295;QD=14.50;ReadPosRankSum=-0.600;VQSLOD=5.4734;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,60:118:99:1740,0,1766 6 26104280 26104280 T C exonic HIST1H4C synonymous SNV HIST1H4C:NM_003542:exon1:c.T105C:p.I35I 0.18 0.26 0.14 0.17 0.2 0.075 0.1838 0.2456 0.1228 0.1581 0.2085 0.2125 0.1498 0.0775 0.23 0.24 0.22 0.15 0.17 rs2229768 COSM3761739 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1807 0.2464 0.1290 0.1238 0.1553 0.2059 0.2192 0.1850 0.0783 0.2258 0.2490 0.1328 0.1391 0.1702 0.2058 0.2313 0.2055 het 1721.12 139 6 26104280 . T C 1721.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.362;DP=139;Dels=0.00;FS=2.159;HRun=1;HaplotypeScore=1.9723;MQ=59.83;MQ0=0;MQRankSum=1.283;QD=12.38;ReadPosRankSum=0.395;VQSLOD=6.4953;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,65:139:99:1751,0,1960 6 26104448 26104448 A G exonic HIST1H4C synonymous SNV HIST1H4C:NM_003542:exon1:c.A273G:p.L91L 0.25 0.11 0.31 0.14 0.37 0.38 0.3325 0.1475 0.3477 0.1185 0.3697 0.3803 0.3135 0.3437 0.3 0.16 0.37 0.28 0.3 rs198852 COSM3761740 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3333 0.1450 0.3444 0.2983 0.1269 0.3708 0.3805 0.3428 0.3426 0.2904 0.1502 0.3377 0.3245 0.1272 0.3512 0.3712 0.3060 het 1285.57 124 6 26104448 . A G 1285.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.147;DP=124;Dels=0.00;FS=9.245;HRun=0;HaplotypeScore=1.7356;MQ=59.12;MQ0=0;MQRankSum=1.147;QD=10.37;ReadPosRankSum=-0.190;VQSLOD=4.7573;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,52:124:99:1316,0,1874 6 26107790 26107790 G T exonic HIST1H1T nonsynonymous SNV HIST1H1T:NM_005323:exon1:c.C532A:p.Q178K 0.24 0.11 0.3 0.13 0.37 0.38 0.3313 0.1476 0.3475 0.1085 0.3697 0.3796 0.3146 0.3428 0.3 0.16 0.37 0.28 0.3 rs198845 . . . . . . . . . . . . . 0.086 0.326 T 0.483 0.349 P 0.162 0.332 B 0.420 0.129 U 1 0.090 P 0.55 0.145 N 3.81 0.038 T -0.31 0.121 N 0.098 0.100 -0.992 0.322 T 0.003 0.010 T . . . 0.094 0.103 3.544 0.644 0.073 0.253 0.224 N c -0.706 -0.676 0.992 0.327 0.554 0.246 0 4.17 0.481 2.979 0.488 1.048 0.713 0.109 0.228 0.003 0.074 14.822 0.696 . ENSG00000124508.12|ENSG00000187837.2|ENSG00000234816.2|ENSG00000124564.13 Artery_Tibial|Brain_Caudate_basal_ganglia|Testis|Testis 0.3323 0.1449 0.3440 0.2972 0.1164 0.3709 0.3800 0.3420 0.3422 0.2896 0.1501 0.3377 0.3212 0.1187 0.3517 0.3706 0.3051 het 2598.48 195 6 26107790 . G T 2598.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.480;DP=195;Dels=0.00;FS=2.540;HRun=2;HaplotypeScore=3.2838;MQ=59.45;MQ0=0;MQRankSum=1.462;QD=13.33;ReadPosRankSum=-0.794;VQSLOD=6.0811;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,102:195:99:2628,0,2452 6 26108282 26108282 C G exonic HIST1H1T nonsynonymous SNV HIST1H1T:NM_005323:exon1:c.G40C:p.V14L 0.41 0.36 0.42 0.3 0.53 0.45 0.4867 0.3898 0.4588 0.2655 0.5552 0.5460 0.4474 0.4188 0.48 0.39 0.53 0.43 0.44 rs198844 COSM3761742 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.431 N 1 0.090 P 0 0.065 N 2.77 0.114 T -0.2 0.102 N 0.06 0.044 -0.902 0.479 T 0.004 0.014 T . . . -0.643 0.048 0.098 0.450 0.035 0.003 0.018 N c -1.420 -1.412 0.323 0.194 0.487 0.133 0 -0.586 0.111 -1.623 0.021 -0.891 0.027 0.000 0.063 0.000 0.016 6.682 0.222 . ENSG00000272462.2|ENSG00000010704.14|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000272462.2|ENSG00000186470.9|ENSG00000272462.2|ENSG00000010704.14|ENSG00000272462.2|ENSG00000272462.2|ENSG00000010704.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.4825 0.3833 0.4593 0.4212 0.2708 0.5474 0.5452 0.4972 0.4194 0.4802 0.3892 0.4388 0.4533 0.2869 0.5261 0.5461 0.4817 hom 3401.58 107 6 26108282 . C G 3401.58 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1713;MQ=59.57;MQ0=0;QD=31.79;VQSLOD=9.1025;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:107:99:3401,274,0 6 26124634 26124634 C T exonic HIST1H2AC synonymous SNV HIST1H2AC:NM_003512:exon1:c.C174T:p.Y58Y 0.08 0.0076 0.11 0.014 0.21 0.092 0.1528 0.0339 0.0777 0.0067 0.2051 0.2136 0.1421 0.0905 0.16 0.047 0.22 0.12 0.16 rs4645 COSM4160444 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1529 0.0312 0.0856 0.1366 0.0064 0.2087 0.2189 0.1710 0.0907 0.1432 0.0366 0.1050 0.1556 0.0074 0.1939 0.2096 0.1493 het 1916.31 145 6 26124634 . C T 1916.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.483;DP=145;Dels=0.00;FS=0.656;HRun=0;HaplotypeScore=5.7102;MQ=59.00;MQ0=0;MQRankSum=2.164;QD=13.22;ReadPosRankSum=-1.001;VQSLOD=3.9287;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,75:145:99:1946,0,1950 6 26184102 26184102 G A exonic HIST1H2BE nonsynonymous SNV HIST1H2BE:NM_003523:exon1:c.G79A:p.G27S 0.35 0.02 0.37 0.76 0.28 0.44 0.3340 0.0532 0.3761 0.7435 0.4379 0.2924 0.3502 0.3929 0.21 0.065 0.28 0.28 0.37 rs7766641 . . . . . . . . . . . . . . . . . . . . . . 0.004 0.345 U 0.078 0.367 P . . . . . . . . . 0.069 0.114 -1.115 0.026 T 0.049 0.210 T . . . 2.218 0.328 17.63 0.969 0.309 0.644 0.321 D c 0.045 0.060 1.000 0.747 0.442 0.072 0 4.18 0.483 6.415 0.730 0.063 0.168 1.000 0.715 0.912 0.389 12.907 0.574 Histone H2A/H2B/H3|Histone-fold ENSG00000272462.2 Skin_Sun_Exposed_Lower_leg 0.3434 0.0482 0.3670 0.3975 0.7483 0.4289 0.2801 0.3240 0.3915 0.2749 0.0578 0.3672 0.3775 0.7305 0.4293 0.3032 0.3646 het 4008.29 248 6 26184102 . G A 4008.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.506;DP=248;DS;Dels=0.00;FS=2.358;HRun=0;HaplotypeScore=3.9795;MQ=57.88;MQ0=1;MQRankSum=0.616;QD=16.16;ReadPosRankSum=1.070;VQSLOD=3.8396;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,120:248:99:3336,0,3358 6 26285560 26285560 A G exonic HIST1H4H synonymous SNV HIST1H4H:NM_003543:exon1:c.T168C:p.R56R 0.62 0.34 0.64 0.89 0.55 0.76 0.6018 0.3603 0.5936 0.9098 0.6708 0.5562 0.6443 0.7527 0.48 0.38 0.54 0.59 0.67 rs2393592 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6075 0.3602 0.5886 0.6540 0.9057 0.6649 0.5461 0.6109 0.7494 0.5322 0.3627 0.5945 0.5993 0.8899 0.6564 0.5538 0.6051 het 2679.04 202 6 26285560 . A G 2679.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.577;DP=202;Dels=0.00;FS=3.216;HRun=0;HaplotypeScore=5.4352;MQ=59.59;MQ0=0;MQRankSum=-0.318;QD=13.26;ReadPosRankSum=-0.961;VQSLOD=4.9137;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,104:202:99:2709,0,2397 6 26285683 26285683 T C exonic HIST1H4H synonymous SNV HIST1H4H:NM_003543:exon1:c.A45G:p.G15G 0.79 0.93 0.73 0.89 0.58 0.76 0.6660 0.8685 0.6559 0.9138 0.6735 0.5785 0.6874 0.7653 0.66 0.85 0.56 0.8 0.71 rs2393593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6644 0.8731 0.6590 0.7540 0.9087 0.6665 0.5639 0.6637 0.7619 0.6869 0.8685 0.6659 0.7119 0.8915 0.6567 0.5699 0.6426 het 1886.13 153 6 26285683 . T C 1886.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.727;DP=153;Dels=0.00;FS=3.096;HRun=2;HaplotypeScore=2.8164;MQ=59.45;MQ0=0;MQRankSum=-0.695;QD=12.33;ReadPosRankSum=-0.075;VQSLOD=6.2649;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,69:153:99:1916,0,2181 6 26501897 26501897 T C exonic BTN1A1 synonymous SNV BTN1A1:NM_001732:exon2:c.T159C:p.S53S 0.57 0.51 0.59 0.73 0.44 0.58 0.5156 0.5294 0.5963 0.7398 0.4123 0.4765 0.4922 0.5315 0.48 0.52 0.47 0.5 0.51 rs1321479 COSM1442687 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5130 0.5214 0.5929 0.5683 0.7414 0.4042 0.4639 0.5007 0.5339 0.4943 0.5157 0.6271 0.5629 0.7268 0.3981 0.4711 0.4825 hom 2214.87 75 6 26501897 . T C 2214.87 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5747;MQ=59.13;MQ0=0;QD=29.53;VQSLOD=8.3121;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2248,178,0 6 26505362 26505362 G A exonic BTN1A1 nonsynonymous SNV BTN1A1:NM_001732:exon3:c.G637A:p.A213T 0.57 0.51 0.59 0.75 0.44 0.58 0.5138 0.5237 0.5955 0.7479 0.4093 0.4743 0.4912 0.5308 0.49 0.52 0.47 0.5 0.5 rs3736781 . . . . . . . . . . . . . 0.02 0.496 D 0.005 0.119 B 0.03 0.205 B 0.174 0.031 N 1 0.090 P 0 0.065 N -0.98 0.758 T -0.37 0.132 N 0.005 0.000 -1.073 0.087 T 0.064 0.265 T . . . -0.609 0.049 0.119 0.801 0.126 0.005 0.025 N c -1.671 -1.751 1.000 0.480 0.554 0.283 0 -10.5 0.002 -1.511 0.023 -0.519 0.050 0.000 0.063 0.000 0.016 9.997 0.409 CD80-like\x2c immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000233631.2|ENSG00000181315.6|ENSG00000233631.2|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000261584.1|ENSG00000181315.6|ENSG00000228223.1|ENSG00000233631.2|ENSG00000124549.10|ENSG00000181315.6|ENSG00000181315.6|ENSG00000111801.11|ENSG00000233631.2|ENSG00000233631.2|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000181315.6|ENSG00000181315.6|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000181315.6|ENSG00000233631.2|ENSG00000181315.6|ENSG00000261584.1|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000261584.1|ENSG00000182952.4|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000261584.1|ENSG00000182952.4|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000261584.1|ENSG00000124549.10|ENSG00000261584.1|ENSG00000228223.1|ENSG00000261353.1|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000233631.2|ENSG00000182952.4|ENSG00000181315.6|ENSG00000181315.6|ENSG00000233631.2|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000112763.11|ENSG00000261584.1|ENSG00000182952.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5132 0.5196 0.5925 0.5671 0.7511 0.4043 0.4637 0.5002 0.5335 0.4947 0.5136 0.6289 0.5629 0.7488 0.3985 0.4707 0.4806 hom 3810.88 123 6 26505362 . G A 3810.88 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=59.17;MQ0=0;QD=30.98;VQSLOD=9.1573;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3810,313,0 6 26505403 26505403 C A exonic BTN1A1 synonymous SNV BTN1A1:NM_001732:exon3:c.C678A:p.G226G 0.57 0.51 0.59 0.74 0.44 0.57 0.5143 0.5245 0.5956 0.7482 0.4094 0.4748 0.4901 0.5308 0.49 0.52 0.47 0.5 0.51 rs3736782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5132 0.5195 0.5926 0.5672 0.7510 0.4042 0.4637 0.5007 0.5334 0.4947 0.5140 0.6295 0.5629 0.7475 0.3981 0.4707 0.4816 hom 3031.49 104 6 26505403 . C A 3031.49 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.65;MQ0=0;QD=29.15;VQSLOD=8.2985;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,103:104:99:3064,250,0 6 26509330 26509330 C G exonic BTN1A1 nonsynonymous SNV BTN1A1:NM_001732:exon7:c.C1509G:p.D503E 0.57 0.52 0.59 0.75 0.44 0.57 0.5146 0.5285 0.5951 0.7476 0.4094 0.4748 0.4934 0.5312 0.49 0.52 0.47 0.5 0.5 rs9393728 COSM3761750 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.296 0.147 N 1 0.090 P 0.805 0.203 L 1.36 0.344 T -0.08 0.082 N 0.011 0.001 -0.976 0.360 T 0.011 0.040 T . . . -1.111 0.028 0.010 0.506 0.043 0.049 0.105 N c -1.296 -1.295 0.001 0.081 0.554 0.283 0 -1.89 0.072 -3.020 0.007 0.876 0.383 0.000 0.063 0.120 0.196 4.423 0.108 B30.2/SPRY domain ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000233631.2|ENSG00000181315.6|ENSG00000233631.2|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000181315.6|ENSG00000181315.6|ENSG00000111801.11|ENSG00000233631.2|ENSG00000233631.2|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000181315.6|ENSG00000181315.6|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000181315.6|ENSG00000233631.2|ENSG00000181315.6|ENSG00000261584.1|ENSG00000261584.1|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000182952.4|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000261584.1|ENSG00000182952.4|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000261584.1|ENSG00000124549.10|ENSG00000261584.1|ENSG00000261353.1|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000233631.2|ENSG00000182952.4|ENSG00000181315.6|ENSG00000124508.12|ENSG00000181315.6|ENSG00000233631.2|ENSG00000261584.1|ENSG00000181315.6|ENSG00000233631.2|ENSG00000124549.10|ENSG00000112763.11|ENSG00000261584.1|ENSG00000182952.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5135 0.5220 0.5926 0.5673 0.7512 0.4045 0.4640 0.5002 0.5337 0.4951 0.5162 0.6277 0.56 0.7478 0.3978 0.4704 0.4775 hom 5626.60 184 6 26509330 . C G 5626.60 Mask AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6268;MQ=59.24;MQ0=0;QD=30.58;VQSLOD=7.9026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:184:99:5626,436,0 6 26545632 26545632 G A exonic HMGN4 synonymous SNV HMGN4:NM_006353:exon2:c.G198A:p.G66G 0.57 0.52 0.59 0.75 0.44 0.58 0.5148 0.5273 0.5948 0.7497 0.4091 0.4748 0.4900 0.5332 0.49 0.52 0.47 0.5 0.48 rs4871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5139 0.5216 0.5929 0.5649 0.7531 0.4046 0.4646 0.5009 0.5343 0.4952 0.5153 0.6271 0.5671 0.7506 0.3974 0.4709 0.4807 hom 7085.96 246 6 26545632 . G A 7085.96 Mask AC=2;AF=1.00;AN=2;DP=246;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7262;MQ=59.48;MQ0=0;QD=28.80;VQSLOD=8.6367;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,245:246:99:7085,542,0 6 26597333 26597333 A G exonic ABT1 synonymous SNV ABT1:NM_013375:exon1:c.A123G:p.K41K 0.71 0.73 0.64 0.79 0.57 0.78 0.6411 0.7137 0.5729 0.7979 0.4749 0.6118 0.5814 0.7458 0.65 0.7 0.62 0.7 0.5 rs3800302 COSM1754697 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6329 0.7101 0.5790 0.6842 0.8010 0.4723 0.6084 0.6216 0.7486 0.6383 0.7133 0.6181 0.6887 0.7898 0.4782 0.6174 0.6133 hom 1470.29 46 6 26597333 . A G 1470.29 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6739;MQ=59.50;MQ0=0;QD=31.96;VQSLOD=9.2565;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1503,123,0 6 26598188 26598188 A G exonic ABT1 synonymous SNV ABT1:NM_013375:exon2:c.A288G:p.G96G 0.52 0.49 0.51 0.67 0.38 0.54 0.4571 0.4900 0.4790 0.6862 0.3497 0.4219 0.4236 0.4876 0.44 0.48 0.42 0.43 0.45 rs3800303 COSM4003841 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4533 0.4851 0.4822 0.5384 0.6912 0.3404 0.4093 0.4468 0.4883 0.4462 0.4800 0.5107 0.5166 0.6793 0.3352 0.4231 0.4314 hom 2831.92 87 6 26598188 . A G 2831.92 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7140;MQ=58.82;MQ0=0;QD=32.55;VQSLOD=8.6479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2865,223,0 6 27425185 27425185 C A exonic ZNF184 nonsynonymous SNV ZNF184:NM_001318891:exon4:c.G79T:p.A27S,ZNF184:NM_001318892:exon4:c.G79T:p.A27S,ZNF184:NM_007149:exon4:c.G79T:p.A27S 0.62 0.53 0.67 0.58 0.65 0.71 0.6415 0.5282 0.6793 0.5931 0.5649 0.6435 0.6509 0.7340 0.6 0.53 0.63 0.63 0.63 rs1883216 COSM5983449 1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.392 N 1 0.090 P -1.04 0.011 N 5.77 0.007 T 1.25 0.010 N 0.028 0.051 -1.039 0.176 T 0.000 0.001 T . . . 1.313 0.222 12.34 0.338 0.020 0.065 0.124 N c -0.949 -0.693 0.220 0.183 0.651 0.465 0 3.17 0.354 0.986 0.290 0.242 0.267 0.320 0.253 0.998 0.697 3.768 0.081 Krueppel-associated box ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000096654.11|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000271755.1|ENSG00000124613.4|ENSG00000124613.4|ENSG00000124613.4|ENSG00000096654.11|ENSG00000204789.3|ENSG00000124613.4|ENSG00000124613.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.6412 0.5270 0.6733 0.7745 0.5754 0.5610 0.6361 0.6819 0.7264 0.5893 0.5323 0.6559 0.7715 0.5527 0.5318 0.6313 0.6061 hom 2045.45 67 6 27425185 . C A 2045.45 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=58.11;MQ0=0;QD=30.53;VQSLOD=8.6809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2078,165,0 6 28228342 28228342 A G exonic NKAPL nonsynonymous SNV NKAPL:NM_001007531:exon1:c.A1193G:p.E398G 0.85 0.75 0.87 0.87 0.88 0.92 0.8706 0.7370 0.8757 0.8775 0.9303 0.8740 0.9062 0.9082 0.82 0.74 0.86 0.78 0.87 rs1679709 . . . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.0 0.013 B 0.000 0.843 N 1.000 0.196 P -1.06 0.011 N 2.59 0.133 T 2.2 0.003 N 0.062 0.047 -0.940 0.427 T 0.004 0.014 T . . . 1.360 0.227 12.58 0.822 0.136 0.160 0.190 N c -0.550 -0.286 1.000 0.448 0.549 0.223 0 4.63 0.570 7.527 0.807 0.138 0.222 1.000 0.715 1.000 0.888 11.069 0.470 . ENSG00000197062.7|ENSG00000272009.1|ENSG00000219392.1|ENSG00000197238.3|ENSG00000216901.1|ENSG00000197914.2|ENSG00000197062.7|ENSG00000216901.1|ENSG00000216901.1|ENSG00000216901.1|ENSG00000226314.3|ENSG00000182477.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000197062.7|ENSG00000197062.7|ENSG00000197062.7|ENSG00000197062.7|ENSG00000219392.1|ENSG00000235109.3|ENSG00000216901.1|ENSG00000219392.1|ENSG00000216901.1|ENSG00000197062.7|ENSG00000219392.1|ENSG00000197062.7|ENSG00000182477.5|ENSG00000197062.7|ENSG00000187987.5|ENSG00000216901.1|ENSG00000219392.1|ENSG00000235109.3|ENSG00000197062.7|ENSG00000216901.1|ENSG00000235109.3|ENSG00000235109.3|ENSG00000197062.7|ENSG00000189298.9|ENSG00000197062.7|ENSG00000182477.5|ENSG00000187626.7|ENSG00000216901.1|ENSG00000219392.1|ENSG00000219891.2|ENSG00000189298.9|ENSG00000197062.7|ENSG00000197279.3|ENSG00000272009.1|ENSG00000235109.3|ENSG00000226314.3|ENSG00000182477.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid 0.8722 0.7290 0.8761 0.9178 0.8768 0.9276 0.8646 0.8864 0.9072 0.8364 0.7406 0.8732 0.9437 0.8911 0.9103 0.8625 0.8712 hom 1613.96 51 6 28228342 . A G 1613.96 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=31.65;VQSLOD=9.3557;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1647,126,0 6 28254862 28254862 G C exonic PGBD1 nonsynonymous SNV PGBD1:NM_001184743:exon4:c.G559C:p.V187L,PGBD1:NM_032507:exon4:c.G559C:p.V187L 0.0052 . 0.0086 . 0.019 0.001 0.0108 0.0017 0.0029 0 0.0687 0.0116 0.0187 0.0010 0.0085 0.002 0.012 0.011 0.0082 rs41269293 . . . . . . . . . . . . . 0.095 0.312 T 0.003 0.102 B 0.007 0.121 B . . . 1 0.090 N 1.04 0.263 L 4.91 0.015 T -0.11 0.087 N 0.01 0.001 -0.923 0.452 T 0.001 0.005 T . . . -0.132 0.082 1.503 0.907 0.193 0.227 0.216 N c -0.996 -0.989 0.002 0.095 0.707 0.730 0 1.55 0.222 2.037 0.406 0.032 0.150 0.888 0.309 0.005 0.090 6.977 0.237 . . . 0.0119 0.0018 0.0027 0.0007 0 0.0663 0.0108 0.0162 0.0010 0.0162 0.0018 0.0072 0 0 0.0630 0.0159 0.0214 het 1062.73 78 6 28254862 . G C 1062.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.089;DP=78;Dels=0.00;FS=0.991;HRun=0;HaplotypeScore=1.9931;MQ=58.92;MQ0=0;MQRankSum=0.310;QD=13.62;ReadPosRankSum=1.789;VQSLOD=5.4162;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,39:78:99:1093,0,1033 6 28294550 28294550 T C exonic ZSCAN31 nonsynonymous SNV ZSCAN31:NM_001243243:exon3:c.A137G:p.K46R,ZSCAN31:NM_001243244:exon3:c.A137G:p.K46R,ZSCAN31:NM_001135216:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243241:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243242:exon4:c.A137G:p.K46R,ZSCAN31:NM_030899:exon4:c.A614G:p.K205R,ZSCAN31:NM_001135215:exon8:c.A614G:p.K205R,ZSCAN31:NM_145909:exon8:c.A614G:p.K205R 0.62 0.95 0.49 0.6 0.38 0.5 0.4485 0.8784 0.4560 0.5952 0.3209 0.3607 0.4183 0.5028 0.54 0.85 0.38 0.62 0.4 rs853684 COSM3761758 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.625 0.052 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.805 0.203 L 3.43 0.058 T -0.69 0.219 N 0.035 0.130 -0.935 0.435 T 0.001 0.005 T . . . -1.396 0.019 0.003 0.476 0.038 0.000 0.003 N c -1.695 -1.646 0.014 0.126 0.707 0.730 0 -0.837 0.102 -1.265 0.029 -0.643 0.041 0.000 0.063 0.035 0.152 0.317 0.003 Retrovirus capsid\x2c C-terminal|SCAN domain ENSG00000197062.7|ENSG00000197279.3|ENSG00000272009.1|ENSG00000187987.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000216901.1|ENSG00000204709.4|ENSG00000187987.5|ENSG00000216901.1|ENSG00000216901.1|ENSG00000270326.1|ENSG00000189298.9|ENSG00000197062.7|ENSG00000197279.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000197062.7|ENSG00000235109.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000219392.1|ENSG00000218016.2|ENSG00000187987.5|ENSG00000216901.1|ENSG00000197062.7|ENSG00000219392.1|ENSG00000226314.3|ENSG00000218016.2|ENSG00000187987.5|ENSG00000216901.1|ENSG00000197062.7|ENSG00000218016.2|ENSG00000235109.3|ENSG00000189298.9|ENSG00000216901.1|ENSG00000197062.7|ENSG00000235109.3|ENSG00000216901.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000216901.1|ENSG00000235109.3|ENSG00000216901.1|ENSG00000235109.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000197062.7|ENSG00000235109.3|ENSG00000216901.1|ENSG00000176933.4|ENSG00000197062.7|ENSG00000197279.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000226314.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000189298.9|ENSG00000216901.1|ENSG00000197062.7|ENSG00000235109.3|ENSG00000216901.1|ENSG00000235109.3|ENSG00000197062.7|ENSG00000187987.5|ENSG00000235109.3|ENSG00000204713.6|ENSG00000189298.9|ENSG00000197062.7|ENSG00000197279.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000197062.7|ENSG00000219392.1|ENSG00000216901.1|ENSG00000197062.7|ENSG00000219392.1|ENSG00000197062.7|ENSG00000220721.1|ENSG00000187987.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000189298.9|ENSG00000197062.7|ENSG00000197279.3|ENSG00000218016.2|ENSG00000187987.5|ENSG00000216901.1|ENSG00000219392.1|ENSG00000235109.3|ENSG00000189298.9|ENSG00000197062.7|ENSG00000197279.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000226314.3|ENSG00000216901.1|ENSG00000197062.7|ENSG00000189298.9|ENSG00000197062.7|ENSG00000235109.3|ENSG00000216901.1|ENSG00000197062.7|ENSG00000187987.5|ENSG00000189298.9|ENSG00000235109.3|ENSG00000204713.6|ENSG00000189298.9|ENSG00000137185.7|ENSG00000197062.7|ENSG00000187987.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000182477.5|ENSG00000204713.6|ENSG00000216901.1|ENSG00000235109.3|ENSG00000187987.5|ENSG00000216901.1|ENSG00000197062.7|ENSG00000235109.3|ENSG00000187763.3|ENSG00000187626.7|ENSG00000216901.1|ENSG00000219392.1|ENSG00000219891.2|ENSG00000189298.9|ENSG00000197062.7|ENSG00000220721.1|ENSG00000187987.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000182477.5|ENSG00000216901.1|ENSG00000197062.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Uterus 0.4438 0.8869 0.4581 0.4644 0.5980 0.3166 0.3640 0.4176 0.4984 0.5165 0.8730 0.4976 0.4073 0.5894 0.3277 0.3572 0.3809 het 1416.91 96 6 28294550 . T C 1416.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.415;DP=96;Dels=0.00;FS=12.146;HRun=0;HaplotypeScore=2.6191;MQ=59.57;MQ0=0;MQRankSum=0.651;QD=14.76;ReadPosRankSum=1.040;VQSLOD=4.4027;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,52:96:99:1447,0,1225 6 28327371 28327371 G C exonic ZKSCAN3 nonsynonymous SNV ZKSCAN3:NM_024493:exon2:c.G8C:p.R3T,ZKSCAN3:NM_001242894:exon3:c.G8C:p.R3T 0.11 0.06 0.12 0.24 0.077 0.057 0.0857 0.0577 0.1139 0.2420 0.0992 0.0736 0.0730 0.0459 0.067 0.06 0.07 0.087 0.066 rs733743 COSM4003848 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.496 0.078 T 0.799 0.429 P 0.276 0.384 B . . . 1.000 0.424 P 2.395 0.694 M 3.58 0.046 T -0.62 0.183 N 0.155 0.185 -1.011 0.266 T 0.003 0.010 T . . . 2.054 0.308 16.56 0.935 0.227 0.191 0.203 N c -0.472 -0.492 0.301 0.192 0.626 0.397 0 2.87 0.324 0.423 0.209 0.953 0.551 0.000 0.063 0.978 0.483 7.060 0.241 . ENSG00000216901.1|ENSG00000187987.5|ENSG00000235109.3 Muscle_Skeletal|Nerve_Tibial|Thyroid 0.0876 0.0587 0.1097 0.0320 0.2554 0.0983 0.0738 0.0728 0.0464 0.0795 0.0597 0.1146 0.0364 0.2683 0.0836 0.0698 0.0611 het 1414.12 123 6 28327371 . G C 1414.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.591;DP=123;Dels=0.00;FS=9.186;HRun=0;HaplotypeScore=6.6306;MQ=59.46;MQ0=0;MQRankSum=1.385;QD=11.50;ReadPosRankSum=0.663;VQSLOD=4.3108;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,52:123:99:1444,0,1784 6 28478555 28478555 A T exonic GPX6 unknown UNKNOWN 0.032 0.042 0.032 0.003 0.059 0.022 0.0459 0.0371 0.0226 0.0053 0.0756 0.0621 0.0479 0.0112 0.055 0.04 0.062 0.054 . rs35062161 COSM5037698 1(skin) . . . . . . . . . . . 0.001 0.784 D 0.992 0.629 D 0.945 0.664 D 0.094 0.202 N 0.995 0.426 D 1.205 0.305 L 3.82 0.038 T -4.68 0.796 D 0.083 0.086 -0.956 0.400 T 0.016 0.065 T . . . 3.337 0.460 22.9 0.982 0.389 0.960 0.667 D c 0.442 0.359 0.998 0.362 0.487 0.133 0 4.12 0.473 8.263 0.897 1.088 0.866 1.000 0.715 0.036 0.153 11.740 0.509 Thioredoxin-like fold ENSG00000187987.5|ENSG00000216901.1 Esophagus_Mucosa|Muscle_Skeletal 0.0449 0.0376 0.0231 0.0190 0.0049 0.0763 0.0638 0.0476 0.0109 0.0507 0.0386 0.0263 0.0166 0.0049 0.0641 0.0621 0.0428 het 2218.31 181 6 28478555 . A T 2218.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.338;DP=181;Dels=0.00;FS=7.482;HRun=1;HaplotypeScore=0.8667;MQ=59.90;MQ0=0;MQRankSum=-0.248;QD=12.26;ReadPosRankSum=0.450;VQSLOD=4.2308;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,89:181:99:2248,0,2361 6 28483482 28483482 A C exonic GPX6 unknown UNKNOWN 0.49 0.75 0.4 0.51 0.33 0.35 0.3792 0.7070 0.4208 0.5353 0.3273 0.3140 0.3519 0.3599 0.43 0.67 0.31 0.46 . rs406113 COSM4160481 1(thyroid) . . . . . . . . . . . 1.0 0.078 T 0.0 0.026 B 0.0 0.013 B 0.909 0.086 N 1 0.090 P -1.51 0.005 N 4.48 0.082 T 0.99 0.027 N 0.021 0.176 -0.916 0.461 T 0.001 0.004 T . . . -1.996 0.008 0.001 0.183 0.006 0.000 0.002 N c -1.703 -1.610 0.005 0.108 0.487 0.133 0 1.48 0.218 0.164 0.162 -0.445 0.057 0.003 0.159 0.002 0.062 4.347 0.105 . ENSG00000187987.5|ENSG00000187987.5|ENSG00000187987.5 Adipose_Subcutaneous|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic 0.3764 0.7111 0.4206 0.3334 0.5407 0.3188 0.3125 0.3591 0.3601 0.4392 0.7013 0.4379 0.3113 0.5549 0.3107 0.3159 0.3084 hom 4729.61 157 6 28483482 . A C 4729.61 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.85;MQ0=0;QD=30.12;VQSLOD=8.1580;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4729,352,0 6 28499567 28499567 T C exonic GPX5 nonsynonymous SNV GPX5:NM_001509:exon3:c.T254C:p.L85P 0.0062 0.0008 0.0029 0.005 0.02 0.0031 0.0164 0.0037 0.0075 0.0013 0.0153 0.0255 0.0088 0.0029 0.017 0.0073 0.022 . . rs58554303 . . . . . . . . . . . . . 0.009 0.574 D 1.0 0.899 D 1.0 0.971 D 0.000 0.629 D 1 0.810 D 3.87 0.960 H 2.43 0.153 T -5.93 0.890 D 0.353 0.503 -0.804 0.549 T 0.142 0.462 T . . . 5.292 0.716 25.7 0.999 0.930 0.894 0.496 D c 0.542 0.348 1.000 0.747 0.556 0.300 0 2.71 0.310 5.507 0.665 -0.203 0.101 1.000 0.715 0.049 0.163 6.218 0.198 Thioredoxin-like fold . . 0.0161 0.0038 0.0108 0.0103 0.0009 0.0139 0.0262 0.0180 0.0026 0.0173 0.0060 0.0095 0.0132 0.0025 0.0129 0.0273 0.0132 het 3158.25 250 6 28499567 . T C 3158.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.172;DP=250;DS;Dels=0.00;FS=1.542;HRun=2;HaplotypeScore=6.2576;MQ=59.72;MQ0=0;MQRankSum=-0.348;QD=12.63;ReadPosRankSum=-1.167;VQSLOD=4.2682;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:3188,0,3978 6 28542424 28542424 G A exonic ZBED9 synonymous SNV ZBED9:NM_052923:exon3:c.C2058T:p.D686D,ZBED9:NM_001329616:exon5:c.C1605T:p.D535D 0.65 0.93 0.55 0.67 0.44 0.56 0.5163 0.8690 0.5638 0.6777 0.3697 0.4355 0.4857 0.5635 0.58 0.85 0.45 0.62 . rs450630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5114 0.8753 0.5585 0.5473 0.6808 0.3653 0.4353 0.4934 0.5540 0.5684 0.8683 0.5839 0.5033 0.6834 0.3807 0.4337 0.4418 hom 5219.81 174 6 28542424 . G A 5219.81 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6316;MQ=58.82;MQ0=0;QD=30.00;VQSLOD=8.1927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:5219,400,0 6 28542520 28542520 C T exonic ZBED9 synonymous SNV ZBED9:NM_052923:exon3:c.G1962A:p.K654K,ZBED9:NM_001329616:exon5:c.G1509A:p.K503K 0.65 0.93 0.55 0.67 0.44 0.56 0.5154 0.8688 0.5634 0.6779 0.3699 0.4352 0.4857 0.5580 0.58 0.85 0.45 0.62 . rs370520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5116 0.8753 0.5586 0.5501 0.6809 0.3659 0.4358 0.4945 0.5553 0.5689 0.8687 0.5813 0.5033 0.6838 0.3806 0.4344 0.4427 hom 4558.73 142 6 28542520 . C T 4558.73 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7340;MQ=59.25;MQ0=0;QD=32.10;VQSLOD=9.6114;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4558,358,0 6 28543089 28543089 G T exonic ZBED9 nonsynonymous SNV ZBED9:NM_052923:exon3:c.C1393A:p.Q465K,ZBED9:NM_001329616:exon5:c.C940A:p.Q314K 0.046 0.086 0.043 0.005 0.06 0.022 0.0514 0.0747 0.0326 0.0066 0.0757 0.0641 0.0531 0.0127 0.066 0.072 0.062 0.065 . rs41270593 . . . . . . . . . . . . . 0.452 0.089 T 0.02 0.170 B 0.011 0.145 B . . . 0.999 0.213 N 0.41 0.124 N 1.01 0.411 T -0.43 0.144 N 0.124 0.140 -0.987 0.333 T 0.023 0.100 T . . . 0.068 0.100 3.269 0.767 0.112 0.249 0.223 N c -0.824 -0.794 0.710 0.228 0.554 0.283 0 2.29 0.275 0.821 0.268 0.784 0.316 0.204 0.241 0.905 0.384 8.606 0.328 Integrase\x2c catalytic core|Ribonuclease H-like domain ENSG00000216901.1 Muscle_Skeletal 0.0499 0.0755 0.0330 0.0284 0.0069 0.0761 0.0650 0.0523 0.0127 0.0635 0.0786 0.0477 0.0331 0.0087 0.0641 0.0631 0.0469 het 987.41 75 6 28543089 . G T 987.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.250;DP=75;Dels=0.00;FS=0.896;HRun=1;HaplotypeScore=1.8932;MQ=59.11;MQ0=0;MQRankSum=0.440;QD=13.17;ReadPosRankSum=-1.798;VQSLOD=5.9455;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,39:75:99:1017,0,981 6 28872036 28872036 G A exonic TRIM27 synonymous SNV TRIM27:NM_006510:exon8:c.C1353T:p.N451N 0.0038 0.0023 0.0086 . 0.0089 0.001 0.0055 0.0027 0.0033 0 0.0050 0.0084 0.0011 0.0008 0.0071 0.003 0.0094 0.011 . rs41270608 . . . . . . . . . . . . . 0.002 0.721 D 0.028 0.184 B 0.006 0.112 B . . . 1 0.810 D . . . 0.06 0.618 T 0.24 0.045 N . . -0.995 0.313 T 0.078 0.312 T 0.008 0.224 T 0.871 0.177 9.895 0.997 0.808 0.215 0.212 N c -1.046 -1.094 1.000 0.441 0.707 0.730 0 -5.66 0.022 -0.990 0.038 -0.644 0.041 0.000 0.063 0.991 0.552 14.700 0.686 B30.2/SPRY domain|Butyrophylin-like|Concanavalin A-like lectin/glucanase domain|SPRY-associated . . 0.0055 0.0026 0.0033 0.0005 0 0.0045 0.0092 0.0070 0.0010 0.0061 0.0024 0.0060 0 0 0.0031 0.0097 0.0072 het 2506.89 205 6 28872036 . G A 2506.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.252;DP=205;DS;Dels=0.00;FS=4.961;HRun=0;HaplotypeScore=6.8775;MQ=59.24;MQ0=0;MQRankSum=0.324;QD=12.23;ReadPosRankSum=-0.117;VQSLOD=4.1637;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,99:205:99:2537,0,2838 6 28963248 28963248 T G exonic ZNF311 nonsynonymous SNV ZNF311:NM_001010877:exon6:c.A1531C:p.K511Q,ZNF311:NM_001318534:exon6:c.A1255C:p.K419Q,ZNF311:NM_001318535:exon6:c.A1255C:p.K419Q,ZNF311:NM_001350636:exon6:c.A1255C:p.K419Q,ZNF311:NM_001350637:exon8:c.A1387C:p.K463Q 0.67 0.95 0.57 0.65 0.44 0.6 0.5088 0.8890 0.5251 0.6712 0.3815 0.4213 0.4955 0.5857 0.57 0.86 0.41 0.66 . rs6456880 COSM451117 1(bone);2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.414 0.100 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.46 0.130 N 2.58 0.134 T -0.01 0.072 N 0.018 0.004 -0.948 0.413 T 0.009 0.032 T . . . -0.398 0.062 0.390 0.553 0.052 0.005 0.022 N c -1.094 -1.136 0.847 0.249 0.563 0.310 0 1.82 0.241 0.318 0.191 -1.005 0.022 0.000 0.063 0.000 0.016 5.603 0.165 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000204709.4|ENSG00000216901.1|ENSG00000216901.1|ENSG00000187987.5|ENSG00000204709.4|ENSG00000216901.1|ENSG00000216901.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000204713.6|ENSG00000235109.3|ENSG00000204713.6|ENSG00000216901.1|ENSG00000235109.3|ENSG00000204713.6|ENSG00000204713.6|ENSG00000230598.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000204713.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.5019 0.8933 0.5237 0.5997 0.6738 0.3824 0.4082 0.4945 0.5865 0.5538 0.8807 0.5502 0.5133 0.6857 0.3713 0.4011 0.4296 het 1467.87 110 6 28963248 . T G 1467.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.735;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8919;MQ=59.28;MQ0=0;MQRankSum=0.233;QD=13.34;ReadPosRankSum=0.407;VQSLOD=6.3186;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,55:110:99:1498,0,1500 6 29080349 29080349 A G exonic OR2J3 nonsynonymous SNV OR2J3:NM_001005216:exon1:c.A682G:p.I228V 0.75 0.77 0.75 0.61 0.83 0.8 0.8204 0.7837 0.7915 0.5649 0.9287 0.8606 0.7948 0.7920 0.84 0.81 0.85 0.79 . rs3130764 COSM4003849 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T . . . . . . . . . 1 0.090 P . . . 8.98 0.000 T 0.84 0.018 N 0.044 0.024 -1.107 0.033 T 0.000 0.000 T . . . -1.841 0.010 0.002 0.106 0.001 0.009 0.036 N c -0.926 -1.052 0.000 0.041 0.526 0.212 0 2.78 0.316 -0.984 0.038 -0.093 0.117 0.000 0.063 0.009 0.108 7.733 0.278 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000197935.6|ENSG00000204713.6|ENSG00000197935.6|ENSG00000204713.6|ENSG00000197935.6|ENSG00000204713.6|ENSG00000197935.6|ENSG00000197935.6|ENSG00000204704.2|ENSG00000197935.6|ENSG00000204713.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Nerve_Tibial|Testis|Thyroid|Whole_Blood 0.8197 0.7803 0.7922 0.8267 0.5607 0.9267 0.8584 0.8278 0.7936 0.8282 0.7792 0.7751 0.8377 0.5455 0.9284 0.8632 0.8755 hom 5298.15 160 6 29080349 . A G 5298.15 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9849;MQ=58.37;MQ0=0;QD=33.11;VQSLOD=9.2562;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5298,415,0 6 29080450 29080450 G A exonic OR2J3 nonsynonymous SNV OR2J3:NM_001005216:exon1:c.G783A:p.M261I 0.71 0.65 0.72 0.61 0.82 0.8 0.8038 0.6776 0.7686 0.5641 0.9212 0.8511 0.7790 0.7912 0.8 0.7 0.84 0.75 . rs3130765 . . . . . . . . . . . . . 0.274 0.158 T . . . . . . . . . 1 0.090 P . . . 8.67 0.001 T -1.47 0.360 N 0.051 0.032 -1.104 0.037 T 0.000 0.000 T . . . -0.439 0.059 0.310 0.596 0.061 0.016 0.052 N c -1.277 -1.412 0.000 0.012 0.487 0.133 0 -1.98 0.070 -3.369 0.005 -1.183 0.016 0.000 0.063 0.018 0.130 2.460 0.042 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000197935.6|ENSG00000204713.6|ENSG00000197935.6|ENSG00000204713.6|ENSG00000197935.6|ENSG00000197935.6|ENSG00000197935.6|ENSG00000204713.6|ENSG00000197935.6|ENSG00000204704.2|ENSG00000197935.6|ENSG00000204713.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Lung|Lung|Nerve_Tibial|Testis|Thyroid|Whole_Blood 0.8035 0.6718 0.7673 0.7969 0.5607 0.9205 0.8499 0.8070 0.7928 0.7950 0.6829 0.7488 0.8179 0.5478 0.9204 0.8551 0.8625 hom 5108.92 168 6 29080450 . G A 5108.92 Mask AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1534;MQ=58.96;MQ0=0;QD=30.41;VQSLOD=7.6592;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:168:99:5085,403,0 6 29141632 29141632 T C exonic OR2J2 nonsynonymous SNV OR2J2:NM_030905:exon1:c.T220C:p.Y74H 0.32 0.041 0.4 0.35 0.51 0.39 0.4515 0.0964 0.4658 0.3307 0.5900 0.5114 0.4711 0.4150 0.37 0.12 0.49 0.3 . rs3116855 COSM4160485 1(thyroid);1(biliary_tract) . . . . . . . . . . . 0.013 0.538 D . . . . . . . . . 0.957 0.262 P 2.815 0.823 M 4.95 0.014 T -4.08 0.747 D 0.05 0.031 -1.071 0.092 T 0.009 0.030 T . . . 4.098 0.550 23.7 0.997 0.816 0.132 0.175 N c -0.130 -0.279 0.000 0.012 0.487 0.133 0 2.3 0.276 1.292 0.327 0.514 0.281 0.002 0.151 0.409 0.256 9.076 0.355 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000204709.4|ENSG00000187987.5|ENSG00000216901.1|ENSG00000216901.1|ENSG00000204709.4|ENSG00000216901.1|ENSG00000204709.4|ENSG00000216901.1|ENSG00000204709.4|ENSG00000187987.5|ENSG00000216901.1|ENSG00000216901.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000204709.4|ENSG00000216901.1|ENSG00000235109.3|ENSG00000204713.6|ENSG00000189298.9|ENSG00000187987.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000216901.1|ENSG00000204644.5|ENSG00000216901.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000218016.2|ENSG00000187987.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000216901.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000235109.3|ENSG00000204644.5|ENSG00000204713.6|ENSG00000187987.5|ENSG00000235109.3|ENSG00000204713.6|ENSG00000216901.1|ENSG00000230598.1|ENSG00000189298.9|ENSG00000197062.7|ENSG00000216901.1|ENSG00000235109.3|ENSG00000204644.5|ENSG00000204713.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4554 0.0906 0.4646 0.3827 0.3253 0.5871 0.5133 0.4688 0.4146 0.3906 0.1028 0.4320 0.4570 0.3103 0.5767 0.5113 0.5021 het 2814.21 221 6 29141632 . T C 2814.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.243;DP=221;DS;Dels=0.00;FS=1.665;HRun=1;HaplotypeScore=4.1879;MQ=58.64;MQ0=0;MQRankSum=1.205;QD=12.73;ReadPosRankSum=0.162;VQSLOD=5.1203;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:122,99:221:99:2844,0,3307 6 29141743 29141743 A G exonic OR2J2 nonsynonymous SNV OR2J2:NM_030905:exon1:c.A331G:p.T111A 0.94 0.89 0.94 0.99 0.95 0.95 0.9663 0.9097 0.9622 0.9896 0.9955 0.9712 0.9622 0.9597 0.95 0.92 0.97 0.97 . rs3129157 COSM4160486 1(thyroid) . . . . . . . . . . . 0.085 0.327 T . . . . . . . . . 1 0.090 P . . . 4.69 0.017 T -3.45 0.675 D 0.009 0.001 -0.953 0.404 T 0.003 0.010 T . . . 0.240 0.117 5.093 0.772 0.114 0.008 0.031 N c -1.075 -1.294 0.000 0.012 0.487 0.133 0 -1.74 0.076 -1.189 0.031 -2.719 0.002 0.000 0.063 0.011 0.114 7.468 0.263 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000206503.7|ENSG00000206503.7 Adipose_Subcutaneous|Lung 0.9666 0.9055 0.9615 0.9448 0.9901 0.9941 0.9705 0.9635 0.9627 0.9574 0.9073 0.9460 0.9669 0.9962 0.9948 0.9726 0.9753 hom 7752.70 250 6 29141743 . A G 7752.70 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.663;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6632;MQ=57.67;MQ0=0;MQRankSum=0.707;QD=31.01;ReadPosRankSum=-0.014;VQSLOD=6.5660;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7728,651,0 6 29141772 29141772 A G exonic OR2J2 synonymous SNV OR2J2:NM_030905:exon1:c.A360G:p.S120S 0.75 0.77 0.75 0.59 0.83 0.8 0.8190 0.7828 0.7916 0.5549 0.9268 0.8594 0.7933 0.7923 0.84 0.8 0.85 0.8 . rs3129158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8184 0.7796 0.7923 0.8259 0.5487 0.9251 0.8576 0.8272 0.7939 0.8266 0.7773 0.7746 0.8411 0.5378 0.9266 0.8610 0.8771 hom 7806.81 250 6 29141772 . A G 7806.81 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3789;MQ=57.88;MQ0=0;QD=31.23;VQSLOD=6.7836;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7805,665,0 6 29141849 29141849 T C exonic OR2J2 nonsynonymous SNV OR2J2:NM_030905:exon1:c.T437C:p.V146A 0.38 0.11 0.45 0.38 0.55 0.51 0.5059 0.1694 0.5012 0.3467 0.6302 0.5605 0.5322 0.5203 0.43 0.19 0.54 0.39 . rs3116856 COSM5021506 1(bone) . . . . . . . . . . . 1.0 0.010 T . . . . . . . . . 1 0.090 P . . . 1.1 0.390 T 1.59 0.007 N 0.039 0.019 -0.976 0.359 T 0.014 0.057 T . . . -1.659 0.013 0.002 0.117 0.002 0.002 0.013 N c -1.006 -1.127 0.000 0.029 0.487 0.133 0 2.3 0.276 -0.249 0.088 -0.375 0.066 0.000 0.063 0.043 0.159 7.973 0.291 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000204709.4|ENSG00000216901.1|ENSG00000204709.4|ENSG00000216901.1|ENSG00000204713.6|ENSG00000235109.3|ENSG00000216901.1|ENSG00000216901.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000204713.6|ENSG00000204713.6|ENSG00000230598.1|ENSG00000235109.3|ENSG00000204713.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.5090 0.1641 0.5016 0.4429 0.3414 0.6230 0.5642 0.5263 0.5176 0.4438 0.1810 0.4893 0.4865 0.3323 0.6165 0.5570 0.5515 het 4564.05 242 6 29141849 . T C 4564.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.555;DP=242;DS;Dels=0.00;FS=1.661;HRun=0;HaplotypeScore=4.3830;MQ=58.27;MQ0=0;MQRankSum=0.930;QD=18.86;ReadPosRankSum=0.904;VQSLOD=3.9281;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,133:242:99:3904,0,3018 6 29142054 29142054 C G exonic OR2J2 synonymous SNV OR2J2:NM_030905:exon1:c.C642G:p.L214L 0.38 0.11 0.45 0.38 0.55 0.51 0.5055 0.1692 0.5003 0.3460 0.6300 0.5602 0.5322 0.5201 0.43 0.19 0.54 0.39 . rs3129159 COSM4160487 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5086 0.1639 0.5009 0.4425 0.3412 0.6229 0.5637 0.5263 0.5174 0.4418 0.1812 0.4880 0.4899 0.3302 0.6160 0.5544 0.5486 het 2550.44 225 6 29142054 . C G 2550.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.373;DP=225;Dels=0.00;FS=0.497;HRun=0;HaplotypeScore=5.7038;MQ=59.06;MQ0=0;MQRankSum=-0.371;QD=11.34;ReadPosRankSum=1.112;VQSLOD=4.3476;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,98:225:99:2580,0,3709 6 29142064 29142064 A G exonic OR2J2 nonsynonymous SNV OR2J2:NM_030905:exon1:c.A652G:p.T218A 0.32 0.041 0.4 0.35 0.51 0.39 0.4506 0.0958 0.4639 0.3294 0.5898 0.5108 0.4722 0.4147 0.37 0.12 0.49 0.3 . rs3130743 COSM4160488 1(bone);1(thyroid) . . . . . . . . . . . 0.006 0.614 D . . . . . . . . . 1 0.090 P 4 0.968 H 1.22 0.370 T -0.15 0.093 N 0.021 0.005 -0.825 0.537 T 0.167 0.507 T . . . 2.061 0.309 16.60 0.955 0.264 0.061 0.119 N c -0.448 -0.666 0.000 0.029 0.487 0.133 0 2.0 0.254 1.748 0.377 -0.291 0.083 0.748 0.289 0.177 0.212 6.152 0.194 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000204709.4|ENSG00000187987.5|ENSG00000216901.1|ENSG00000216901.1|ENSG00000204709.4|ENSG00000216901.1|ENSG00000204709.4|ENSG00000216901.1|ENSG00000204709.4|ENSG00000187987.5|ENSG00000216901.1|ENSG00000216901.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000204709.4|ENSG00000216901.1|ENSG00000235109.3|ENSG00000204713.6|ENSG00000189298.9|ENSG00000187987.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000216901.1|ENSG00000204644.5|ENSG00000216901.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000218016.2|ENSG00000187987.5|ENSG00000216901.1|ENSG00000235109.3|ENSG00000216901.1|ENSG00000216901.1|ENSG00000235109.3|ENSG00000235109.3|ENSG00000204644.5|ENSG00000204713.6|ENSG00000187987.5|ENSG00000235109.3|ENSG00000204713.6|ENSG00000216901.1|ENSG00000230598.1|ENSG00000189298.9|ENSG00000197062.7|ENSG00000216901.1|ENSG00000235109.3|ENSG00000204644.5|ENSG00000204713.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4549 0.0905 0.4637 0.3823 0.3250 0.5870 0.5128 0.4686 0.4144 0.3898 0.1037 0.4329 0.4564 0.3112 0.5773 0.5096 0.5031 het 2787.66 230 6 29142064 . A G 2787.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=11.046;DP=230;Dels=0.00;FS=5.492;HRun=0;HaplotypeScore=6.3421;MQ=58.82;MQ0=0;MQRankSum=-0.460;QD=12.12;ReadPosRankSum=0.659;VQSLOD=3.9646;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,102:230:99:2818,0,3243 6 29142317 29142317 C T exonic OR2J2 nonsynonymous SNV OR2J2:NM_030905:exon1:c.C905T:p.A302V 0.0082 0.014 0.01 0.004 0.0099 0.001 0.0078 0.0192 0.0040 0.0038 0.0050 0.0091 0.0034 0.0010 0.014 0.02 0.011 0.011 . rs41270628 . . . . . . . . . . . . . 0.249 0.172 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 N . . . 1.36 0.344 T 2.2 0.003 N 0.053 0.035 -0.984 0.341 T 0.022 0.092 T . . . 0.925 0.182 10.22 0.643 0.072 0.000 0.003 N c -1.180 -1.249 0.000 0.012 0.487 0.133 0 0.101 0.138 0.583 0.234 -0.876 0.028 0.000 0.063 0.005 0.090 5.388 0.154 . . . 0.0073 0.0189 0.0043 0.0006 0.0039 0.0045 0.0099 0.0075 0.0011 0.0114 0.0192 0.0084 0 0.0019 0.0031 0.0105 0.0092 het 1721.05 121 6 29142317 . C T 1721.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.152;DP=121;Dels=0.00;FS=1.586;HRun=0;HaplotypeScore=0.9159;MQ=58.72;MQ0=0;MQRankSum=0.417;QD=14.22;ReadPosRankSum=-0.554;VQSLOD=6.0136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,70:121:99:1751,0,1181 6 29274486 29274486 T C exonic OR14J1 nonsynonymous SNV OR14J1:NM_030946:exon1:c.T20C:p.M7T 0.37 0.25 0.43 0.32 0.53 0.37 0.4733 0.3050 0.4288 0.3181 0.5923 0.5276 0.4738 0.4200 0.45 0.33 0.52 0.38 . rs9257694 . . . . . . . . . . . . . 0.056 0.381 T 0.001 0.067 B 0.002 0.063 B 0.598 0.110 N 1 0.090 P -0.385 0.030 N 8.11 0.003 T -1.5 0.366 N 0.032 0.015 -1.003 0.290 T 0.000 0.000 T . . . -0.927 0.035 0.023 0.352 0.022 0.035 0.086 N c -1.216 -1.250 0.000 0.012 0.487 0.133 0 -0.996 0.096 -0.076 0.113 0.022 0.145 0.000 0.063 0.011 0.114 1.716 0.027 . ENSG00000204709.4|ENSG00000204709.4|ENSG00000204709.4|ENSG00000235109.3|ENSG00000204709.4|ENSG00000235109.3|ENSG00000204713.6|ENSG00000235109.3|ENSG00000204644.5|ENSG00000187987.5|ENSG00000235109.3|ENSG00000235109.3|ENSG00000204644.5|ENSG00000204713.6|ENSG00000235109.3|ENSG00000204713.6|ENSG00000230598.1|ENSG00000235109.3|ENSG00000204644.5|ENSG00000204713.6 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.4719 0.3028 0.4311 0.4370 0.3160 0.5887 0.5268 0.4896 0.4115 0.4599 0.3177 0.4260 0.4933 0.3021 0.5796 0.5289 0.5204 het 1835.67 170 6 29274486 . T C 1835.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.395;DP=170;Dels=0.00;FS=1.210;HRun=0;HaplotypeScore=2.9058;MQ=58.89;MQ0=0;MQRankSum=0.468;QD=10.80;ReadPosRankSum=-0.070;VQSLOD=6.5817;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,78:170:99:1866,0,2320 6 29323076 29323076 T C exonic OR5V1 synonymous SNV OR5V1:NM_030876:exon1:c.A897G:p.E299E 0.022 0.0076 0.02 0.042 0.03 0.014 0.0208 0.0061 0.0115 0.0212 0.0259 0.0253 0.0199 0.0164 0.019 0.0068 0.025 0.043 . rs9257769 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0202 0.0056 0.0117 0.0208 0.0185 0.0274 0.0243 0.0231 0.0171 0.0165 0.0045 0.0215 0.0166 0.0111 0.0246 0.0216 0.0224 het 1306.74 97 6 29323076 . T C 1306.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.227;DP=97;Dels=0.00;FS=2.020;HRun=1;HaplotypeScore=0.9159;MQ=59.04;MQ0=0;MQRankSum=-0.054;QD=13.47;ReadPosRankSum=1.649;VQSLOD=6.2721;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,50:97:99:1337,0,1314 6 29323259 29323259 G A exonic OR5V1 synonymous SNV OR5V1:NM_030876:exon1:c.C714T:p.F238F 0.96 0.92 0.94 1. 0.95 1. 0.9736 0.9259 0.9643 0.9998 0.9958 0.9717 0.9670 0.9956 0.95 0.93 0.97 0.98 . rs3117438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9731 0.9237 0.9631 0.9456 0.9999 0.9946 0.9708 0.9676 0.9960 0.9620 0.9217 0.9474 0.9669 1 0.9951 0.9731 0.9807 hom 3554.34 99 6 29323259 . G A 3554.34 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=58.59;MQ0=0;QD=35.90;VQSLOD=8.8371;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3554,286,0 6 29323838 29323838 A C exonic OR5V1 nonsynonymous SNV OR5V1:NM_030876:exon1:c.T135G:p.I45M 0.022 0.0076 0.02 0.042 0.03 0.014 0.0208 0.0061 0.0114 0.0211 0.0259 0.0253 0.0198 0.0161 0.018 0.0068 0.025 0.043 . rs9257770 COSM4160489 1(thyroid) . . . . . . . . . . . 0.035 0.437 D 0.931 0.499 P 0.459 0.446 P 0.084 0.207 N 1 0.090 N 2.055 0.568 M 6.79 0.005 T -1.25 0.316 N 0.115 0.126 -0.925 0.448 T 0.000 0.002 T . . . 2.667 0.382 20.6 0.989 0.487 0.009 0.034 N c -0.794 -0.982 0.000 0.041 0.487 0.133 0 -3.19 0.048 -2.503 0.010 -0.724 0.036 0.000 0.063 0.002 0.062 6.774 0.226 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0202 0.0056 0.0117 0.0208 0.0185 0.0273 0.0243 0.0232 0.0172 0.0165 0.0042 0.0215 0.0166 0.0111 0.0246 0.0216 0.0224 het 1301.58 117 6 29323838 . A C 1301.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.606;DP=117;Dels=0.00;FS=3.494;HRun=0;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;MQRankSum=0.735;QD=11.12;ReadPosRankSum=-0.353;VQSLOD=5.1597;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,54:117:99:1332,0,1653 6 29342825 29342825 G A exonic OR12D3 synonymous SNV OR12D3:NM_030959:exon1:c.C240T:p.L80L 0.29 0.065 0.36 0.26 0.49 0.35 0.4234 0.1073 0.3489 0.2610 0.6218 0.4893 0.4542 0.3988 0.35 0.13 0.48 0.28 . rs3749970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4248 0.1029 0.3514 0.3408 0.2601 0.6170 0.4904 0.4387 0.3984 0.3840 0.1174 0.3449 0.4027 0.2528 0.6038 0.4981 0.4735 het 650.87 60 6 29342825 . G A 650.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.883;DP=60;Dels=0.00;FS=2.487;HRun=1;HaplotypeScore=0.8941;MQ=58.20;MQ0=0;MQRankSum=-0.822;QD=10.85;ReadPosRankSum=0.656;VQSLOD=5.2168;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,24:60:99:681,0,1056 6 29364615 29364615 G T exonic OR12D2 nonsynonymous SNV OR12D2:NM_013936:exon1:c.G139T:p.V47F 0.32 0.19 0.35 0.36 0.45 0.29 0.3857 0.2066 0.3921 0.3215 0.4241 0.4409 0.4106 0.2842 0.36 0.22 0.45 0.32 . rs9257834 COSM3761760 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.014 0.531 D 0.991 0.622 D 0.873 0.602 P 0.000 0.523 D 0.997 0.229 P 2.775 0.813 M 3.91 0.035 T -3.28 0.656 D 0.284 0.343 -1.112 0.029 T 0.019 0.079 T . . . 3.094 0.432 22.5 0.994 0.639 0.084 0.142 N c -0.115 -0.378 0.000 0.056 0.487 0.133 0 3.19 0.356 -0.107 0.108 0.727 0.305 0.000 0.063 0.005 0.090 5.966 0.184 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000204657.2 Testis 0.3909 0.2014 0.3940 0.4883 0.3238 0.4212 0.4406 0.4006 0.2828 0.3567 0.1977 0.3947 0.4868 0.3262 0.4166 0.4331 0.3668 het 2273.57 163 6 29364615 . G T 2273.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.840;DP=163;Dels=0.00;FS=0.600;HRun=2;HaplotypeScore=3.5171;MQ=59.29;MQ0=0;MQRankSum=0.665;QD=13.95;ReadPosRankSum=-0.635;VQSLOD=6.3928;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,78:163:99:2304,0,2458 6 29364643 29364643 T C exonic OR12D2 nonsynonymous SNV OR12D2:NM_013936:exon1:c.T167C:p.L56P 0.32 0.19 0.35 0.36 0.45 0.29 0.3858 0.2067 0.3923 0.3215 0.4244 0.4409 0.4106 0.2842 0.36 0.22 0.44 0.32 . rs4987411 COSM4416339 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.000 0.810 P -3.435 0.000 N 10.38 0.000 T 9.05 0.000 N 0.141 0.165 -0.899 0.481 T 0.000 0.000 T . . . -0.974 0.033 0.018 0.539 0.049 0.016 0.052 N c -1.414 -1.163 0.008 0.116 0.487 0.133 0 3.2 0.357 5.536 0.667 -0.138 0.110 1.000 0.715 0.249 0.227 9.859 0.401 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000204657.2 Testis 0.3909 0.2016 0.3941 0.4882 0.3237 0.4212 0.4405 0.4009 0.2828 0.3568 0.1972 0.3950 0.4868 0.3254 0.4174 0.4334 0.3678 het 1696.87 131 6 29364643 . T C 1696.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.923;DP=131;Dels=0.00;FS=1.403;HRun=3;HaplotypeScore=2.6766;MQ=58.96;MQ0=0;MQRankSum=-1.025;QD=12.95;ReadPosRankSum=0.035;VQSLOD=5.8707;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,63:131:99:1727,0,1958 6 29364787 29364787 C T exonic OR12D2 nonsynonymous SNV OR12D2:NM_013936:exon1:c.C311T:p.S104F 0.98 0.99 0.94 1. 0.95 1. 0.9755 0.9873 0.9691 0.9998 0.9933 0.9649 0.9692 0.9953 0.97 0.99 0.96 1. . rs3128853 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.221 P -0.89 0.014 N 4.94 0.014 T 4.8 0.000 N 0.083 0.077 -0.949 0.413 T 0.001 0.003 T . . . -0.321 0.067 0.594 0.595 0.061 0.002 0.010 N c -1.254 -1.123 0.000 0.070 0.487 0.133 0 4.03 0.459 -0.293 0.083 -0.053 0.122 0.000 0.063 0.134 0.200 6.979 0.237 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000206503.7|ENSG00000206503.7|ENSG00000206503.7|ENSG00000206503.7|ENSG00000206503.7 Adipose_Subcutaneous|Artery_Tibial|Lung|Muscle_Skeletal|Thyroid 0.9741 0.9874 0.9670 0.9425 0.9999 0.9933 0.9637 0.9663 0.9956 0.9779 0.9879 0.9545 0.9603 0.9994 0.9917 0.9680 0.9806 hom 2967.65 92 6 29364787 . C T 2967.65 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4303;MQ=59.25;MQ0=0;QD=32.26;VQSLOD=9.2485;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3001,247,0 6 29364835 29364835 T G exonic OR12D2 nonsynonymous SNV OR12D2:NM_013936:exon1:c.T359G:p.L120R 0.32 0.19 0.35 0.36 0.45 0.29 0.3847 0.2066 0.3905 0.3192 0.4230 0.4398 0.4096 0.2841 0.36 0.22 0.44 0.33 . rs2073153 COSM5617800 2(breast) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.356 N 0.000 0.810 P -4 0.000 N 3.55 0.048 T 6.18 0.000 N 0.047 0.028 -0.980 0.349 T 0.000 0.002 T . . . -0.342 0.065 0.533 0.450 0.035 0.017 0.054 N c -1.459 -1.146 0.022 0.135 0.487 0.133 0 3.05 0.341 5.146 0.645 -0.077 0.119 0.935 0.322 0.020 0.134 9.955 0.406 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000204657.2 Testis 0.3906 0.2016 0.3935 0.4883 0.3234 0.4210 0.4402 0.4005 0.2828 0.3568 0.1975 0.3921 0.4868 0.3276 0.4170 0.4334 0.3678 het 1241.32 92 6 29364835 . T G 1241.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.860;DP=92;Dels=0.00;FS=3.260;HRun=0;HaplotypeScore=6.2435;MQ=59.55;MQ0=0;MQRankSum=-0.978;QD=13.49;ReadPosRankSum=-0.360;VQSLOD=3.8168;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:43,49:92:99:1271,0,1255 6 29364951 29364951 G A exonic OR12D2 nonsynonymous SNV OR12D2:NM_013936:exon1:c.G475A:p.V159I 0.32 0.19 0.35 0.36 0.45 0.29 0.3859 0.2066 0.3925 0.3218 0.4238 0.4410 0.4096 0.2842 0.37 0.22 0.45 0.33 . rs2073151 COSM3761761 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.589 0.058 T 0.021 0.172 B 0.05 0.239 B 0.277 0.150 N 1.000 0.090 P 0.275 0.100 N 1.22 0.370 T -0.13 0.090 N 0.031 0.012 -0.964 0.384 T 0.014 0.057 T . . . -0.615 0.049 0.115 0.702 0.089 0.012 0.041 N c -1.473 -1.523 0.000 0.042 0.487 0.133 0 -3.14 0.049 -1.489 0.024 -1.262 0.014 0.000 0.063 0.000 0.016 9.281 0.367 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000204657.2 Testis 0.3908 0.2016 0.3941 0.4883 0.3238 0.4212 0.4404 0.4006 0.2828 0.3574 0.1980 0.3973 0.4867 0.3282 0.4175 0.4339 0.3671 het 1763.58 144 6 29364951 . G A 1763.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.723;DP=144;Dels=0.00;FS=2.970;HRun=0;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;MQRankSum=-1.260;QD=12.25;ReadPosRankSum=-1.832;VQSLOD=5.5800;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,69:144:99:1794,0,2106 6 29365241 29365241 T C exonic OR12D2 synonymous SNV OR12D2:NM_013936:exon1:c.T765C:p.L255L 0.33 0.23 0.36 0.36 0.45 0.29 0.3908 0.2369 0.4024 0.3216 0.4238 0.4436 0.4108 0.2849 0.38 0.25 0.45 0.33 . rs2073150 COSM3761762 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3959 0.2340 0.4053 0.5030 0.3238 0.4214 0.4422 0.4057 0.2835 0.3683 0.2310 0.4105 0.5066 0.3284 0.4175 0.4352 0.3773 het 2891.10 247 6 29365241 . T C 2891.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.816;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3426;MQ=59.58;MQ0=0;MQRankSum=-1.006;QD=11.70;ReadPosRankSum=-0.161;VQSLOD=5.5723;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,107:247:99:2921,0,3809 6 29394926 29394926 C T exonic OR11A1 nonsynonymous SNV OR11A1:NM_013937:exon1:c.G493A:p.A165T 0.12 0.051 0.19 0.079 0.15 0.17 0.1468 0.0585 0.25 0.0794 0.1338 0.1525 0.1218 0.1434 0.12 0.057 0.15 0.087 . rs9257857 COSM3761763 1(large_intestine) . . . . . . . . . . . 0.218 0.191 T 0.034 0.191 B 0.026 0.195 B 0.385 0.044 N 1 0.090 P 0.625 0.159 N 3.13 0.080 T -0.37 0.132 N 0.032 0.013 -0.932 0.438 T 0.005 0.018 T . . . 1.165 0.206 11.56 0.970 0.315 0.020 0.059 N c -0.994 -0.999 0.000 0.029 0.487 0.133 0 0.719 0.173 -0.198 0.094 -0.109 0.115 0.000 0.063 0.507 0.272 6.173 0.195 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1520 0.0563 0.2394 0.1499 0.0814 0.1335 0.1558 0.1551 0.1406 0.1164 0.0614 0.2160 0.1457 0.0779 0.1309 0.1425 0.1242 het 830.90 64 6 29394926 . C T 830.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.923;DP=64;Dels=0.00;FS=8.830;HRun=0;HaplotypeScore=1.8857;MQ=58.69;MQ0=0;MQRankSum=0.363;QD=12.98;ReadPosRankSum=-1.048;VQSLOD=4.8751;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,31:64:99:861,0,883 6 29407970 29407970 T C exonic OR10C1 nonsynonymous SNV OR10C1:NM_013941:exon1:c.T178C:p.F60L 0.18 0.076 0.24 0.25 0.18 0.19 0.1900 0.0875 0.3005 0.2225 0.1689 0.1893 0.1515 0.1663 0.15 0.083 0.19 0.13 . rs2074469 COSM3761764 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.997 0.689 D 0.995 0.818 D 0.002 0.387 U 0.812 0.588 P 1.82 0.479 L . . . . . . 0.081 0.153 -0.668 0.619 T 0.003 0.009 T . . . 3.258 0.451 22.8 0.997 0.805 0.470 0.277 N c 0.219 0.085 0.000 0.044 0.487 0.133 0 3.6 0.402 0.767 0.261 0.839 0.342 0.564 0.272 0.917 0.393 12.35 0.543 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1942 0.0842 0.2832 0.1677 0.2252 0.1708 0.1922 0.1926 0.1640 0.1550 0.0881 0.2637 0.1623 0.2324 0.1601 0.1779 0.1582 het 2999.67 220 6 29407970 . T C 2999.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.082;DP=220;Dels=0.00;FS=1.045;HRun=1;HaplotypeScore=2.7543;MQ=59.45;MQ0=0;MQRankSum=0.918;QD=13.63;ReadPosRankSum=0.444;VQSLOD=6.6530;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:112,108:220:99:3030,0,3081 6 29408313 29408313 C A exonic OR10C1 nonsynonymous SNV OR10C1:NM_013941:exon1:c.C521A:p.P174Q 0.15 0.039 0.2 0.25 0.14 0.17 0.1594 0.0474 0.2777 0.2217 0.1407 0.1514 0.1295 0.1469 0.11 0.049 0.15 0.11 . rs2074466 COSM3761765 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . 0.027 0.182 B 0.042 0.227 B 0.149 0.180 N 1 0.090 P 0.37 0.121 N . . . . . . 0.083 0.143 -1.027 0.214 T 0.000 0.000 T . . . -0.125 0.082 1.555 0.669 0.079 0.002 0.012 N c -1.450 -1.469 0.000 0.029 0.487 0.133 0 -0.467 0.115 -0.939 0.040 -0.474 0.054 0.000 0.063 0.003 0.074 4.291 0.102 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1646 0.0458 0.2611 0.1463 0.2236 0.1407 0.1538 0.1561 0.1445 0.1214 0.0498 0.2363 0.1358 0.2318 0.1343 0.1411 0.1253 het 4041.83 250 6 29408313 . C A 4041.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.593;DP=250;DS;Dels=0.00;FS=2.875;HRun=0;HaplotypeScore=7.3142;MQ=59.67;MQ0=0;MQRankSum=2.351;QD=16.17;ReadPosRankSum=0.466;VQSLOD=3.7103;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:131,119:250:99:3403,0,3391 6 29408528 29408528 A G exonic OR10C1 nonsynonymous SNV OR10C1:NM_013941:exon1:c.A736G:p.M246V 0.59 0.63 0.53 0.58 0.53 0.65 0.5705 0.6365 0.5277 0.5632 0.6114 0.5492 0.5279 0.6352 0.6 0.69 0.55 0.63 . rs2074464 COSM3761766 1(kidney);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.003 0.352 N 1.000 0.810 P -3.395 0.000 N . . . . . . 0.015 0.077 -1.041 0.170 T 0.000 0.000 T . . . -0.429 0.060 0.329 0.793 0.123 0.002 0.010 N c -1.546 -1.327 0.003 0.096 0.487 0.133 0 3.49 0.389 0.538 0.227 0.053 0.162 0.000 0.063 0.178 0.212 10.662 0.447 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5635 0.6346 0.5128 0.4055 0.5638 0.6105 0.5565 0.5421 0.6299 0.5768 0.6365 0.4988 0.43 0.5641 0.6163 0.5415 0.5746 hom 7909.90 250 6 29408528 . A G 7909.90 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5140;MQ=59.76;MQ0=0;MQRankSum=-1.081;QD=31.64;ReadPosRankSum=-1.524;VQSLOD=8.0194;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7908,665,0 6 29408571 29408571 G T exonic OR10C1 nonsynonymous SNV OR10C1:NM_013941:exon1:c.G779T:p.R260L . . . . . . 0.0004 0.0001 8.711e-05 0 0.0018 0.0006 0 0 0.0005 0.0003 0.0006 . . rs145984332 . . . . . . . . . . . . . . . . 1.0 0.899 D 0.996 0.832 D 0.026 0.261 N 1.000 0.186 N 2.27 0.647 M . . . . . . 0.439 0.497 -1.012 0.264 T 0.139 0.458 T 0.007 0.183 T 6.033 0.830 28.0 0.998 0.858 0.041 0.095 N c 0.179 -0.004 0.000 0.042 0.487 0.133 0 3.35 0.373 -0.057 0.116 0.035 0.151 0.000 0.063 0.922 0.397 12.275 0.539 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0004 0 0.0002 0 0 0.0016 0.0005 0.0002 0 0.0005 0.0001 0.0012 0 0 0.0017 0.0005 0 het 3157.05 250 6 29408571 . G T 3157.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.376;DP=250;DS;Dels=0.00;FS=0.487;HRun=0;HaplotypeScore=1.9936;MQ=59.91;MQ0=0;MQRankSum=0.996;QD=12.63;ReadPosRankSum=1.259;VQSLOD=4.5209;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3187,0,3702 6 29408600 29408600 G T exonic OR10C1 nonsynonymous SNV OR10C1:NM_013941:exon1:c.G808T:p.D270Y 0.0028 . 0.013 . 0.005 . 0.0037 0.0006 0.0036 0 0.0154 0.0043 0.0045 0.0004 0.002 0.001 0.0026 . . rs72482089 . . . . . . . . . . . . . . . . 1.0 0.899 D 1.0 0.971 D 0.001 0.405 N 1 0.345 N 3.33 0.910 M . . . . . . 0.371 0.681 -1.020 0.236 T 0.001 0.003 T . . . 5.310 0.718 25.8 0.993 0.581 0.118 0.167 N c 0.298 0.079 0.001 0.085 0.487 0.133 0 3.54 0.395 0.006 0.129 0.919 0.430 0.000 0.063 0.703 0.310 8.931 0.346 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0041 0.0006 0.0047 0.0102 0 0.0137 0.0035 0.0031 0.0005 0.0048 0.0006 0.0024 0.0099 0 0.0146 0.0053 0.0092 het 2962.05 245 6 29408600 . G T 2962.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.995;DP=245;DS;Dels=0.00;FS=2.968;HRun=1;HaplotypeScore=8.1440;MQ=59.89;MQ0=0;MQRankSum=1.495;QD=12.09;ReadPosRankSum=-1.563;VQSLOD=3.1467;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:131,113:245:99:2992,0,3829 6 29523676 29523676 C G exonic UBD nonsynonymous SNV UBD:NM_006398:exon2:c.G479C:p.C160S . . . . . . 0.8012 0.9503 0.9014 0.9569 0.7034 0.7230 0.7654 0.9114 0.8 0.94 0.72 0.89 . rs8337 . . . . . . . . . . . . . 0.403 0.104 T 0.0 0.026 B 0.0 0.013 B 0.161 0.030 N 1.000 0.186 P -1.32 0.007 N 2.83 0.108 T 0.13 0.055 N 0.047 0.030 -0.855 0.517 T 0.002 0.008 T . . . -2.946 0.001 0.001 0.473 0.038 0.001 0.005 N c -2.806 -2.903 1.0 0.983 0.537 0.216 0 -10.6 0.002 -7.983 0.000 -2.319 0.003 0.000 0.063 0.000 0.016 6.969 0.237 Ubiquitin domain|Ubiquitin-related domain ENSG00000204713.6 Whole_Blood 0.7996 0.9524 0.8850 0.7051 0.9581 0.7071 0.7256 0.7839 0.9090 0.7978 0.9476 0.8711 0.7020 0.9599 0.7068 0.7133 0.7786 hom 3390.71 108 6 29523676 . C G 3390.71 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.61;MQ0=0;QD=31.40;VQSLOD=7.7382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3390,262,0 6 29523952 29523952 A G exonic UBD nonsynonymous SNV UBD:NM_006398:exon2:c.T203C:p.I68T 0.18 0.029 0.21 0.18 0.25 0.3 0.2536 0.0588 0.1592 0.1782 0.4039 0.2732 0.3037 0.3293 0.19 0.068 0.26 0.17 . rs2076485 COSM1442903 1(large_intestine) . . . . . . . . . . . 0.019 0.501 D 1.0 0.899 D 0.99 0.774 D 0.727 0.099 N 0.003 0.434 P 3.855 0.959 H -1.39 0.804 T -4.64 0.793 D 0.148 0.203 -0.189 0.780 T 0.597 0.856 D . . . 5.004 0.673 25.1 0.998 0.849 0.158 0.189 N c 0.253 0.131 0.978 0.298 0.537 0.216 0 3.0 0.336 0.639 0.242 0.153 0.239 0.154 0.235 0.968 0.456 7.034 0.240 Ubiquitin domain|Ubiquitin-related domain . . 0.2511 0.0542 0.1575 0.1539 0.1831 0.4008 0.2713 0.2585 0.3320 0.2176 0.0686 0.1492 0.1656 0.1902 0.3997 0.2633 0.3139 het 1017.87 73 6 29523952 . A G 1017.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.634;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.53;MQ0=0;MQRankSum=1.231;QD=13.94;ReadPosRankSum=0.392;VQSLOD=6.5823;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:1048,0,988 6 29555778 29555778 A G exonic OR2H2 synonymous SNV OR2H2:NM_007160:exon1:c.A57G:p.P19P 0.27 0.16 0.3 0.34 0.26 0.34 0.2746 0.1899 0.2554 0.3175 0.4163 0.2536 0.3108 0.3364 0.23 0.21 0.24 0.2 . rs2235698 COSM4003855 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2743 0.1894 0.2555 0.1791 0.3150 0.4074 0.2482 0.2789 0.3363 0.2603 0.1938 0.2794 0.1457 0.3185 0.4141 0.2546 0.3136 hom 6273.51 210 6 29555778 . A G 6273.51 Mask AC=2;AF=1.00;AN=2;DP=210;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9983;MQ=58.09;MQ0=0;QD=29.87;VQSLOD=8.4115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:6272,505,0 6 29555809 29555809 C T exonic OR2H2 nonsynonymous SNV OR2H2:NM_007160:exon1:c.C88T:p.L30F 0.8 0.91 0.74 0.89 0.62 0.8 0.7012 0.8849 0.7567 0.8969 0.6726 0.6288 0.6800 0.7514 0.71 0.87 0.61 0.67 . rs3129034 COSM4999977 1(pancreas) . . . . . . . . . . . 0.146 0.250 T 0.003 0.102 B 0.012 0.149 B 0.897 0.073 N 0.999 0.213 P 1.52 0.385 L 4.63 0.019 T -2.64 0.566 D 0.037 0.017 -0.975 0.361 T 0.003 0.011 T . . . -0.227 0.074 0.961 0.935 0.226 0.004 0.019 N c -1.007 -1.074 0.014 0.125 0.497 0.185 0 0.682 0.171 -1.180 0.032 -0.263 0.087 0.000 0.063 0.066 0.174 9.030 0.352 . . . 0.6959 0.8866 0.7382 0.5798 0.8926 0.6698 0.6290 0.6836 0.7456 0.7175 0.8823 0.7266 0.5667 0.8825 0.6790 0.6175 0.6840 hom 7476.57 221 6 29555809 . C T 7476.57 Mask AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4420;MQ=58.12;MQ0=0;QD=33.83;VQSLOD=7.7465;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:7476,578,0 6 29625001 29625001 A G exonic MOG synonymous SNV MOG:NM_001008228:exon1:c.A15G:p.S5S,MOG:NM_001008229:exon1:c.A15G:p.S5S,MOG:NM_001170418:exon1:c.A15G:p.S5S,MOG:NM_002433:exon1:c.A15G:p.S5S,MOG:NM_206809:exon1:c.A15G:p.S5S,MOG:NM_206810:exon1:c.A15G:p.S5S,MOG:NM_206811:exon1:c.A15G:p.S5S,MOG:NM_206812:exon1:c.A15G:p.S5S,MOG:NM_206814:exon1:c.A15G:p.S5S 0.93 0.95 0.91 0.97 0.83 0.96 0.8793 0.9369 0.9444 0.9866 0.7167 0.8439 0.8365 0.9501 0.87 0.92 0.84 0.94 . rs3130250 COSM5021509;COSM5021508 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8780 0.9384 0.9414 0.8869 0.9884 0.7282 0.8431 0.8675 0.9498 0.8641 0.9358 0.9165 0.8642 0.9913 0.7268 0.8390 0.8432 hom 1594.38 56 6 29625001 . A G 1594.38 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6229;MQ=59.33;MQ0=0;QD=28.47;VQSLOD=8.2974;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1627,132,0 6 29627222 29627222 C A exonic MOG nonsynonymous SNV MOG:NM_001008228:exon2:c.C215A:p.P72H,MOG:NM_001008229:exon2:c.C215A:p.P72H,MOG:NM_002433:exon2:c.C215A:p.P72H,MOG:NM_206809:exon2:c.C215A:p.P72H,MOG:NM_206810:exon2:c.C215A:p.P72H,MOG:NM_206811:exon2:c.C215A:p.P72H,MOG:NM_206812:exon2:c.C215A:p.P72H 0.016 . 0.042 0.002 0.007 0.045 0.0220 0.0020 0.1011 0.0005 0.0118 0.0085 0.0241 0.0456 0.0066 0.0033 0.0085 . . rs138169338 COSM228993 1(skin) . . . . . . . . . . . 0.187 0.254 T 1.0 0.899 D 1.0 0.971 D 0.000 0.537 D 0.971 0.810 D -0.145 0.044 N 1.67 0.273 T 0.18 0.053 N 0.578 0.646 -1.001 0.296 T 0.054 0.229 T . . . 4.617 0.618 24.5 0.996 0.745 0.281 0.232 N c 0.107 0.150 1.000 0.500 0.447 0.083 0 4.84 0.620 3.063 0.494 0.935 0.490 0.103 0.226 0.903 0.383 14.495 0.671 Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.0247 0.0015 0.0951 0.0236 0.0006 0.0131 0.0071 0.0226 0.0437 0.0104 0.0037 0.0847 0.0232 0.0006 0.0118 0.0099 0.0214 het 2369.49 187 6 29627222 . C A 2369.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.416;DP=187;DS;Dels=0.00;FS=4.659;HRun=0;HaplotypeScore=5.1511;MQ=59.75;MQ0=0;MQRankSum=0.358;QD=12.67;ReadPosRankSum=-0.699;VQSLOD=3.1965;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,97:187:99:2399,0,2646 6 29634012 29634012 A G exonic MOG nonsynonymous SNV MOG:NM_001170418:exon2:c.A172G:p.I58V,MOG:NM_206814:exon2:c.A172G:p.I58V,MOG:NM_001008228:exon3:c.A520G:p.I174V,MOG:NM_001008229:exon3:c.A520G:p.I174V,MOG:NM_002433:exon3:c.A520G:p.I174V,MOG:NM_206809:exon3:c.A520G:p.I174V,MOG:NM_206810:exon3:c.A520G:p.I174V,MOG:NM_206811:exon3:c.A520G:p.I174V,MOG:NM_206812:exon3:c.A520G:p.I174V 0.97 1. 0.95 1. 0.91 0.99 0.9498 0.9866 0.9765 0.9981 0.9328 0.9259 0.9519 0.9849 0.94 0.98 0.91 0.98 . rs3130253 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.090 B 0.0 0.080 B 0.176 0.172 N 1 0.090 P -0.895 0.014 N 3.65 0.278 T 0.04 0.065 N 0.024 0.055 -0.964 0.384 T 0.005 0.017 T . . . -1.526 0.016 0.002 0.259 0.012 0.002 0.013 N c -1.611 -1.444 1.000 0.480 0.447 0.083 0 1.68 0.231 -0.307 0.081 -2.237 0.004 0.001 0.137 0.014 0.122 1.365 0.020 Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000230795.2|ENSG00000204574.8|ENSG00000206503.7|ENSG00000227766.1|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000204574.8|ENSG00000230795.2|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000230795.2|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000206503.7|ENSG00000227766.1|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000206503.7|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000230795.2|ENSG00000206503.7|ENSG00000227766.1|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000206503.7|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000204574.8|ENSG00000227766.1|ENSG00000204622.6|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000230795.2|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000206503.7|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Stomach|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.9491 0.9876 0.9716 0.9784 0.9980 0.9356 0.9193 0.9484 0.9851 0.9459 0.9865 0.9558 0.9801 0.9994 0.9410 0.9156 0.9552 hom 6109.10 184 6 29634012 . A G 6109.10 Mask AC=2;AF=1.00;AN=2;DP=184;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=33.20;VQSLOD=9.5707;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,184:184:99:6108,496,0 6 29640951 29640951 T C exonic ZFP57 nonsynonymous SNV ZFP57:NM_001109809:exon4:c.A937G:p.R313G 0.004 . . . 0.016 0.0041 0.0120 0.0025 0.0023 0 0.0126 0.0171 0.0046 0.0105 0.011 0.0037 0.014 . . rs61730327 . . . . . . . . . . . . . 0.243 0.222 T 0.0 0.026 B 0.001 0.040 B 0.202 0.033 N 1 0.090 N . . . 3.41 0.056 T -1.3 0.356 N 0.061 0.045 -0.909 0.470 T 0.005 0.015 T . . . -0.939 0.034 0.021 0.693 0.087 0.006 0.025 N c -1.266 -1.400 0.979 0.299 0.516 0.203 0 -1.97 0.071 -0.972 0.039 -0.396 0.063 0.000 0.063 0.003 0.074 3.425 0.069 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0107 0.0023 0.0021 0.0011 5.838e-05 0.0114 0.0168 0.0098 0.0112 0.0100 0.0033 0.0012 0.0033 0 0.0089 0.0160 0.0071 het 1160.40 125 6 29640951 . T C 1160.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.203;DP=125;Dels=0.00;FS=6.397;HRun=2;HaplotypeScore=0.9332;MQ=59.26;MQ0=0;MQRankSum=0.416;QD=9.28;ReadPosRankSum=-0.608;VQSLOD=4.4569;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,45:125:99:1190,0,2311 6 29691582 29691582 C A exonic HLA-F nonsynonymous SNV HLA-F:NM_001098478:exon2:c.C212A:p.P71Q,HLA-F:NM_001098479:exon2:c.C212A:p.P71Q,HLA-F:NM_018950:exon2:c.C212A:p.P71Q 0.0038 . . . 0.016 0.0031 0.0154 0.0040 0.0026 0 0.0181 0.0222 0.0084 0.0104 0.0095 0.0036 0.013 . . rs17875380 . . . . . . . . . . . . . 0.009 0.614 D 0.194 0.278 B 0.198 0.351 B 0.402 0.045 U 1 0.810 D 2.23 0.633 M 9.27 0.000 T -5.55 0.897 D 0.381 0.511 -0.977 0.358 T 0.003 0.011 T . . . 3.843 0.519 23.4 0.938 0.232 0.022 0.063 N c -0.526 -0.645 1.000 0.747 0.767 0.994 0 1.63 0.228 -0.740 0.049 -0.395 0.063 0.000 0.063 0.026 0.142 6.582 0.217 MHC class I alpha chain\x2c alpha1 alpha2 domains|MHC class I-like antigen recognition-like|MHC classes I/II-like antigen recognition protein . . 0.0101 0.0024 0.0020 0.0012 6.232e-05 0.0113 0.0163 0.0094 0.0089 0.0099 0.0033 0.0012 0.0033 0 0.0089 0.0158 0.0071 het 515.96 28 6 29691582 . C A 515.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.347;DP=28;Dels=0.00;FS=3.674;HRun=0;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;MQRankSum=-1.240;QD=18.43;ReadPosRankSum=0.539;VQSLOD=3.8765;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,17:28:99:546,0,211 6 29693011 29693011 C T exonic HLA-F nonsynonymous SNV HLA-F:NM_001098479:exon4:c.C814T:p.P272S,HLA-F:NM_018950:exon4:c.C814T:p.P272S 0.88 0.82 0.88 0.98 0.8 0.93 0.8474 0.8184 0.9145 0.9860 0.6838 0.8221 0.8068 0.9158 0.82 0.81 0.82 0.88 . rs1736924 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.475 0.122 N 1 0.200 P -0.43 0.028 N 3.91 0.035 T 2.86 0.002 N 0.032 0.243 -0.941 0.425 T 0.001 0.004 T . . . -0.451 0.058 0.290 0.791 0.121 0.008 0.032 N c -1.474 -1.429 1.000 0.747 0.628 0.401 0 -0.675 0.107 0.007 0.130 -0.269 0.086 0.001 0.137 0.875 0.366 5.997 0.186 Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000206503.7|ENSG00000227766.1|ENSG00000206503.7|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000230795.2|ENSG00000227766.1|ENSG00000204623.4|ENSG00000204622.6|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000206503.7|ENSG00000235821.1|ENSG00000214922.5|ENSG00000272236.1|ENSG00000273340.1|ENSG00000227766.1|ENSG00000225864.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000204642.9|ENSG00000206503.7|ENSG00000206503.7|ENSG00000227766.1|ENSG00000206503.7|ENSG00000227766.1|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000233916.1|ENSG00000227766.1|ENSG00000206503.7|ENSG00000206503.7|ENSG00000227766.1|ENSG00000227766.1|ENSG00000206503.7|ENSG00000235290.1|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000206503.7|ENSG00000227766.1|ENSG00000206503.7|ENSG00000227766.1|ENSG00000206503.7|ENSG00000227766.1|ENSG00000204622.6|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000206503.7|ENSG00000227766.1|ENSG00000206503.7|ENSG00000214922.5|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cortex|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.8491 0.8190 0.9159 0.8832 0.9882 0.6986 0.8211 0.8313 0.9159 0.8138 0.8195 0.8888 0.8609 0.9895 0.6951 0.8147 0.8033 hom 3302.13 104 6 29693011 . C T 3302.13 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8808;MQ=59.19;MQ0=0;QD=31.75;VQSLOD=8.5606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3302,268,0 6 29795636 29795636 G A exonic HLA-G synonymous SNV HLA-G:NM_002127:exon2:c.G15A:p.A5A 0.54 0.51 0.47 0.6 0.43 0.7 0.4994 0.5157 0.4840 0.6034 0.3262 0.4566 0.5113 0.6817 0.48 0.51 0.46 0.59 . rs1630223 COSM4003859 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4970 0.5159 0.4982 0.5749 0.6002 0.3359 0.4538 0.4936 0.6754 0.4654 0.5057 0.4940 0.6 0.6049 0.3444 0.4500 0.4814 het 1178.40 111 6 29795636 . G A 1178.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.176;DP=111;Dels=0.00;FS=1.603;HRun=0;HaplotypeScore=4.7328;MQ=58.82;MQ0=0;MQRankSum=-0.496;QD=10.62;ReadPosRankSum=0.619;VQSLOD=4.7205;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,50:111:99:1208,0,1402 6 29795657 29795657 G A exonic HLA-G synonymous SNV HLA-G:NM_002127:exon2:c.G36A:p.L12L 0.54 0.51 0.47 0.6 0.43 0.7 0.4995 0.5174 0.4840 0.6028 0.3257 0.4567 0.5147 0.6821 0.48 0.51 0.46 0.59 . rs1630185 COSM4003860 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4970 0.5163 0.4979 0.5749 0.6001 0.3359 0.4538 0.4930 0.6755 0.4648 0.5039 0.4952 0.5973 0.6045 0.3446 0.4498 0.4835 het 1160.18 106 6 29795657 . G A 1160.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.690;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=59.13;MQ0=0;MQRankSum=0.607;QD=10.95;ReadPosRankSum=-0.055;VQSLOD=6.0681;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,49:106:99:1190,0,1478 6 29795993 29795993 G A exonic HLA-G synonymous SNV HLA-G:NM_002127:exon3:c.G243A:p.P81P 0.54 0.51 0.47 0.6 0.43 0.7 0.4985 0.5131 0.4845 0.6029 0.3288 0.4548 0.5092 0.6820 0.48 0.51 0.46 0.58 . rs1130355 COSM4160498 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4959 0.5121 0.4981 0.5739 0.5999 0.3359 0.4519 0.4928 0.6755 0.4672 0.5070 0.4952 0.6060 0.6110 0.3447 0.4515 0.4857 het 986.97 70 6 29795993 . G A 986.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.513;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=58.16;MQ0=0;MQRankSum=0.847;QD=14.10;ReadPosRankSum=0.872;VQSLOD=4.7135;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,38:70:99:1017,0,906 6 29796327 29796327 C T exonic HLA-G synonymous SNV HLA-G:NM_002127:exon4:c.C351T:p.H117H 0.25 0.26 0.26 0.11 0.28 0.34 0.2853 0.2732 0.2755 0.0952 0.1985 0.3082 0.3065 0.3434 0.3 0.27 0.31 0.26 . rs1130356 COSM3761767 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2849 0.2669 0.2823 0.4040 0.0943 0.2105 0.3083 0.2891 0.3361 0.2736 0.2631 0.2931 0.4371 0.0970 0.2213 0.3042 0.3105 het 1098.61 110 6 29796327 . C T 1098.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.719;DP=110;Dels=0.00;FS=1.080;HRun=0;HaplotypeScore=5.1818;MQ=59.14;MQ0=0;MQRankSum=-0.400;QD=9.99;ReadPosRankSum=-0.644;VQSLOD=4.5212;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,44:110:99:1129,0,1914 6 29797639 29797639 C T exonic HLA-G synonymous SNV HLA-G:NM_002127:exon6:c.C942T:p.G314G 0.23 0.25 0.24 0.11 0.26 0.3 0.2662 0.2620 0.2631 0.0907 0.1822 0.2874 0.2693 0.3110 0.29 0.27 0.3 0.25 . rs1049033 COSM3761768 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2664 0.2564 0.2708 0.3858 0.0886 0.1936 0.2875 0.2701 0.3039 0.2595 0.2528 0.2770 0.4172 0.0903 0.2021 0.2888 0.2922 het 2144.55 178 6 29797639 . C T 2144.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.683;DP=178;Dels=0.00;FS=1.897;HRun=0;HaplotypeScore=0.8667;MQ=59.03;MQ0=0;MQRankSum=0.051;QD=12.05;ReadPosRankSum=-2.164;VQSLOD=5.6015;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,89:178:99:2175,0,2499 6 29797696 29797696 A G exonic HLA-G synonymous SNV HLA-G:NM_002127:exon6:c.A999G:p.R333R 0.6 0.62 0.55 0.61 0.46 0.73 0.5435 0.6207 0.5795 0.6083 0.3376 0.4934 0.5530 0.7211 0.54 0.61 0.51 0.66 . rs1130363 COSM4003862 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5430 0.6208 0.5935 0.6518 0.6045 0.3474 0.4900 0.5452 0.7138 0.5181 0.6094 0.6089 0.6689 0.6150 0.3580 0.4844 0.5113 het 1943.97 157 6 29797696 . A G 1943.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.080;DP=157;Dels=0.00;FS=3.898;HRun=1;HaplotypeScore=1.8499;MQ=59.02;MQ0=0;MQRankSum=-0.761;QD=12.38;ReadPosRankSum=-1.126;VQSLOD=5.0797;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,75:157:99:1974,0,2248 6 29912029 29912029 G - exonic HLA-A frameshift deletion HLA-A:NM_001242758:exon4:c.750delG:p.D251Tfs*45,HLA-A:NM_002116:exon4:c.750delG:p.D251Tfs*45 0.37 0.42 0.4 0.29 0.38 0.37 0.4221 0.4311 0.4377 0.3587 0.3927 0.4384 0.4041 0.3881 0.37 0.37 0.37 . . rs558831267 COSM451152;COSM5000719 1(pancreas);1(large_intestine);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3577 0.3496 0.3496 0.3912 0.2297 0.3699 0.3913 0.3314 0.2963 0.0625 0.0554 0.0466 0.0852 0.0514 0.0326 0.0786 0.0481 het 883.08 96 6 29912028 . AG A 883.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.286;DP=96;FS=53.915;HRun=2;HaplotypeScore=368.6077;MQ=20.88;MQ0=100;MQRankSum=0.708;QD=4.21;ReadPosRankSum=-2.308;set=variant2 GT:AD:DP:GQ:PL 0/1:151,59:96:99:922,0,2531 6 29913042 29913042 C T exonic HLA-A synonymous SNV HLA-A:NM_001242758:exon7:c.C1077T:p.S359S,HLA-A:NM_002116:exon7:c.C1077T:p.S359S 0.93 0.93 0.91 0.98 0.85 0.95 0.8795 0.9160 0.9350 0.9899 0.7166 0.8541 0.8337 0.9304 0.84 0.89 0.82 0.92 0.049 rs14288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8821 0.9224 0.9397 0.9147 0.9909 0.7299 0.8565 0.8694 0.9323 0.8606 0.9178 0.9246 0.8775 0.9901 0.7279 0.8415 0.8422 hom 5054.26 174 6 29913042 . C T 5054.26 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.17;MQ0=0;QD=29.05;VQSLOD=5.6827;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:5053,424,0 6 30036471 30036471 C A exonic PPP1R11 synonymous SNV PPP1R11:NM_021959:exon2:c.C174A:p.S58S 0.19 0.3 0.17 0.19 0.095 0.16 0.1522 0.2701 0.2204 0.2180 0.0450 0.1229 0.1422 0.1618 0.17 0.26 0.12 0.21 . rs2074482 COSM5618837 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1512 0.2724 0.2229 0.2952 0.2077 0.0470 0.1112 0.1552 0.1562 0.1553 0.2702 0.2351 0.3255 0.1836 0.0490 0.1053 0.1082 het 1614.71 125 6 30036471 . C A 1614.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.097;DP=125;Dels=0.00;FS=0.813;HRun=3;HaplotypeScore=5.9816;MQ=59.32;MQ0=0;MQRankSum=-0.324;QD=12.92;ReadPosRankSum=1.604;VQSLOD=4.7795;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,60:125:99:1645,0,1960 6 30039240 30039240 G T exonic RNF39 nonsynonymous SNV RNF39:NM_025236:exon4:c.C911A:p.A304E,RNF39:NM_170769:exon4:c.C911A:p.A304E 0.19 0.3 0.17 0.19 0.095 0.16 0.2698 0.3906 0.3440 0.3376 0.1141 0.2266 0.2565 0.2824 0.17 0.25 0.12 0.17 . rs2301753 COSM3761780;COSM3761781 3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.295 N 1 0.090 P -1.155 0.009 N 0.03 0.692 T 0.54 0.028 N 0.037 0.025 -1.042 0.167 T 0.026 0.111 T . . . 0.750 0.165 9.151 0.910 0.196 0.007 0.029 N c -1.451 -1.285 1.000 0.747 0.443 0.080 1 4.54 0.551 1.532 0.354 -0.008 0.133 1.000 0.715 0.021 0.135 9.819 0.398 B30.2/SPRY domain|Concanavalin A-like lectin/glucanase domain ENSG00000204623.4|ENSG00000204623.4|ENSG00000206503.7|ENSG00000204616.6|ENSG00000231226.1|ENSG00000204623.4|ENSG00000066379.10|ENSG00000066379.10|ENSG00000204623.4|ENSG00000206503.7|ENSG00000204623.4|ENSG00000204618.4|ENSG00000204622.6|ENSG00000204618.4|ENSG00000238024.1|ENSG00000066379.10|ENSG00000204644.5 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1756 0.3176 0.2503 0.3218 0.2437 0.0531 0.1252 0.1790 0.1718 0.1551 0.2699 0.2351 0.3278 0.1838 0.0485 0.1056 0.1055 het 334.58 17 6 30039240 . G T 334.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.053;QD=19.68;ReadPosRankSum=1.107;VQSLOD=12.6067;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,12:17:85.98:365,0,86 6 30041009 30041009 A G exonic RNF39 nonsynonymous SNV RNF39:NM_025236:exon3:c.T607C:p.S203P,RNF39:NM_170769:exon3:c.T607C:p.S203P 0.19 0.3 0.17 0.19 0.095 0.16 0.1539 0.2775 0.2199 0.2194 0.0449 0.1244 0.1421 0.1612 0.17 0.26 0.12 0.21 . rs2074479 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.370 0.135 N 1.000 0.090 P -0.625 0.021 N 0.04 0.703 T 1.74 0.006 N 0.069 0.056 -1.079 0.076 T 0.046 0.197 T . . . 0.136 0.107 4.000 0.598 0.062 0.011 0.039 N c -1.000 -0.847 0.999 0.391 0.625 0.396 0 3.99 0.454 0.871 0.275 -0.302 0.080 0.822 0.298 0.929 0.403 7.844 0.284 . ENSG00000204623.4|ENSG00000204623.4|ENSG00000206503.7|ENSG00000204616.6|ENSG00000231226.1|ENSG00000204623.4|ENSG00000066379.10|ENSG00000066379.10|ENSG00000204623.4|ENSG00000206503.7|ENSG00000204623.4|ENSG00000204618.4|ENSG00000204622.6|ENSG00000204618.4|ENSG00000238024.1|ENSG00000066379.10|ENSG00000204644.5 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1517 0.2731 0.2231 0.2960 0.2082 0.0470 0.1115 0.1552 0.1567 0.1552 0.2699 0.2356 0.3278 0.1846 0.0490 0.1054 0.1079 het 1410.29 125 6 30041009 . A G 1410.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.734;DP=125;Dels=0.00;FS=5.958;HRun=2;HaplotypeScore=3.5641;MQ=58.74;MQ0=0;MQRankSum=-0.231;QD=11.28;ReadPosRankSum=-0.815;VQSLOD=5.0159;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,56:125:99:1440,0,1608 6 30043486 30043486 T C exonic RNF39 synonymous SNV RNF39:NM_025236:exon1:c.A81G:p.K27K,RNF39:NM_170769:exon1:c.A81G:p.K27K 0.14 0.23 0.11 0.13 0.04 0.12 0.0932 0.2092 0.1645 0.1782 0.0224 0.0508 0.0673 0.1276 0.098 0.19 0.05 0.15 . rs11758516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0912 0.2101 0.1601 0.0790 0.1693 0.0216 0.0487 0.0859 0.1228 0.0969 0.2054 0.1591 0.0667 0.1465 0.0244 0.0452 0.0565 het 1938.63 150 6 30043486 . T C 1938.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.616;DP=150;Dels=0.00;FS=1.406;HRun=1;HaplotypeScore=1.9512;MQ=59.04;MQ0=0;MQRankSum=1.471;QD=12.92;ReadPosRankSum=-0.613;VQSLOD=5.7629;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,74:150:99:1969,0,2233 6 30071330 30071330 C T exonic TRIM31 nonsynonymous SNV TRIM31:NM_007028:exon9:c.G1261A:p.E421K 0.26 0.41 0.22 0.099 0.22 0.3 0.2552 0.3902 0.2771 0.0766 0.1784 0.2505 0.2328 0.3077 0.3 0.38 0.26 0.3 . rs1116221 COSM3761788 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.753 0.414 P 0.097 0.288 B . . . 1 0.090 P 0 0.065 N -0.45 0.699 T -0.38 0.134 N 0.072 0.069 -1.081 0.071 T 0.032 0.138 T . . . 2.901 0.409 21.9 0.885 0.175 0.015 0.050 N c -0.978 -1.084 1.000 0.747 0.437 0.062 0 1.05 0.192 0.305 0.189 0.533 0.282 0.000 0.063 0.022 0.137 5.560 0.163 . ENSG00000204623.4|ENSG00000204644.5|ENSG00000235821.1|ENSG00000204644.5|ENSG00000235821.1|ENSG00000204622.6|ENSG00000227766.1|ENSG00000204623.4|ENSG00000204622.6|ENSG00000206341.6|ENSG00000204644.5|ENSG00000235821.1|ENSG00000228078.1|ENSG00000206341.6|ENSG00000204622.6|ENSG00000204622.6|ENSG00000204622.6|ENSG00000227766.1|ENSG00000204644.5|ENSG00000235821.1|ENSG00000204644.5|ENSG00000204622.6|ENSG00000204622.6|ENSG00000204644.5|ENSG00000235290.1|ENSG00000204622.6|ENSG00000204616.6|ENSG00000181126.9|ENSG00000231226.1|ENSG00000204622.6|ENSG00000229142.1|ENSG00000235821.1|ENSG00000231130.1|ENSG00000204632.7|ENSG00000235290.1|ENSG00000066379.10|ENSG00000204622.6|ENSG00000227766.1|ENSG00000204623.4|ENSG00000204644.5|ENSG00000204623.4|ENSG00000204616.6|ENSG00000204616.6|ENSG00000204622.6|ENSG00000204644.5|ENSG00000228078.1|ENSG00000204623.4|ENSG00000204622.6|ENSG00000231226.1|ENSG00000204632.7|ENSG00000204616.6|ENSG00000204623.4|ENSG00000204622.6|ENSG00000204644.5|ENSG00000214922.5|ENSG00000204622.6|ENSG00000206341.6|ENSG00000230795.2|ENSG00000204644.5|ENSG00000228078.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2537 0.3898 0.2749 0.2795 0.0696 0.1854 0.2563 0.2525 0.3036 0.2767 0.3855 0.2883 0.2318 0.0717 0.2056 0.2533 0.2638 hom 7315.15 227 6 30071330 . C T 7315.15 Mask AC=2;AF=1.00;AN=2;DP=227;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.5593;MQ=59.06;MQ0=0;QD=32.23;VQSLOD=5.9468;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:7314,611,0 6 30075843 30075843 T C exonic TRIM31 synonymous SNV TRIM31:NM_007028:exon6:c.A870G:p.L290L 0.84 0.69 0.85 0.92 0.86 0.92 0.8563 0.7148 0.8877 0.9207 0.8691 0.8521 0.8445 0.8917 0.8 0.72 0.85 0.77 . rs3132679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8607 0.7110 0.8908 0.8383 0.9262 0.8703 0.8528 0.8383 0.8927 0.8194 0.7248 0.8819 0.8510 0.9400 0.8727 0.8414 0.8676 hom 1865.36 56 6 30075843 . T C 1865.36 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=33.31;VQSLOD=9.2363;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1898,147,0 6 30078275 30078275 C T exonic TRIM31 nonsynonymous SNV TRIM31:NM_007028:exon4:c.G694A:p.V232I 0.075 0.049 0.12 0.049 0.12 0.054 0.1144 0.0666 0.1809 0.0437 0.1282 0.1330 0.0925 0.0555 0.12 0.067 0.14 0.087 . rs2523989 . . . . . . . . . . . . . 1.0 0.010 T 0.037 0.195 B 0.006 0.112 B . . . 1 0.090 P -1.15 0.009 N 0.06 0.618 T 0.41 0.034 N 0.011 0.022 -1.022 0.229 T 0.019 0.081 T . . . -0.814 0.040 0.040 0.487 0.040 0.000 0.003 N c -1.636 -1.600 0.623 0.219 0.516 0.203 0 0.419 0.156 0.116 0.153 -0.063 0.121 0.000 0.063 0.012 0.117 3.115 0.059 . ENSG00000204622.6|ENSG00000206341.6|ENSG00000204623.4|ENSG00000204622.6|ENSG00000228078.1|ENSG00000204622.6|ENSG00000206341.6|ENSG00000204622.6|ENSG00000204616.6|ENSG00000231226.1|ENSG00000204622.6|ENSG00000206341.6|ENSG00000204622.6|ENSG00000206341.6|ENSG00000228078.1|ENSG00000204623.4|ENSG00000204623.4|ENSG00000204622.6|ENSG00000204622.6|ENSG00000214922.5|ENSG00000214894.2|ENSG00000204622.6|ENSG00000206341.6 Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.1189 0.0650 0.1735 0.0643 0.0395 0.1385 0.1406 0.1191 0.0549 0.1206 0.0680 0.1699 0.0728 0.0377 0.1623 0.1465 0.1527 hom 7694.97 250 6 30078275 . C T 7694.97 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=30.78;VQSLOD=8.8931;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7694,602,0 6 30078330 30078330 C T exonic TRIM31 synonymous SNV TRIM31:NM_007028:exon4:c.G639A:p.A213A 0.063 0.012 0.11 0.049 0.12 0.054 0.1105 0.0308 0.1759 0.0436 0.1282 0.1324 0.0892 0.0555 0.11 0.036 0.14 0.076 . rs2239529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1155 0.0288 0.1685 0.0640 0.0394 0.1384 0.1399 0.1168 0.0549 0.1102 0.0332 0.1647 0.0728 0.0377 0.1622 0.1458 0.1497 hom 6252.34 192 6 30078330 . C T 6252.34 Mask AC=2;AF=1.00;AN=2;DP=192;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3113;MQ=59.76;MQ0=0;QD=32.56;VQSLOD=9.7165;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:6252,499,0 6 30080274 30080274 G A exonic TRIM31 synonymous SNV TRIM31:NM_007028:exon2:c.C309T:p.H103H 0.12 0.093 0.13 0.087 0.13 0.18 0.1422 0.1039 0.1879 0.0600 0.1283 0.1407 0.1281 0.1869 0.13 0.1 0.14 0.098 . rs2517598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1441 0.1029 0.1805 0.0988 0.0550 0.1386 0.1466 0.1364 0.1847 0.1345 0.1022 0.1778 0.0960 0.0586 0.1623 0.1512 0.1663 hom 4200.28 125 6 30080274 . G A 4200.28 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=33.60;VQSLOD=9.6502;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:4200,334,0 6 30080496 30080496 G A exonic TRIM31 synonymous SNV TRIM31:NM_007028:exon2:c.C87T:p.I29I 0.076 0.057 0.12 0.049 0.12 0.054 0.1152 0.0668 0.1795 0.0439 0.1283 0.1343 0.0929 0.0562 0.11 0.066 0.14 0.087 . rs2844793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1196 0.0662 0.1724 0.0658 0.0396 0.1384 0.1420 0.1201 0.0555 0.1205 0.0654 0.1695 0.0728 0.0377 0.1623 0.148 0.1507 hom 4217.44 126 6 30080496 . G A 4217.44 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;QD=33.47;VQSLOD=9.8143;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4217,331,0 6 30122154 30122154 T C exonic TRIM10 synonymous SNV TRIM10:NM_006778:exon7:c.A1038G:p.Q346Q,TRIM10:NM_052828:exon7:c.A1038G:p.Q346Q 0.97 1. 0.95 1. 0.91 0.98 0.9425 0.9862 0.9740 0.9977 0.9128 0.9164 0.9428 0.9803 0.93 0.98 0.9 0.96 . rs3094134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9419 0.9870 0.9704 0.9715 0.9974 0.9161 0.9100 0.9428 0.9807 0.9342 0.9857 0.9558 0.9603 0.9988 0.9203 0.8983 0.9415 hom 2197.43 73 6 30122154 . T C 2197.43 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5456;MQ=58.73;MQ0=0;QD=30.10;VQSLOD=8.9009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2230,172,0 6 30154199 30154199 T C exonic TRIM26 synonymous SNV TRIM26:NM_001242783:exon9:c.A1074G:p.L358L,TRIM26:NM_003449:exon10:c.A1074G:p.L358L 0.38 0.48 0.48 0.28 0.43 0.23 0.4008 0.4490 0.3848 0.3171 0.4080 0.4419 0.3506 0.2502 0.44 0.44 0.44 0.37 . rs2074473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3965 0.4479 0.3947 0.3646 0.3175 0.4200 0.4490 0.3956 0.2283 0.4376 0.4430 0.3855 0.3609 0.3030 0.4278 0.4579 0.4070 het 2776.74 222 6 30154199 . T C 2776.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.911;DP=222;DS;Dels=0.00;FS=1.652;HRun=2;HaplotypeScore=10.6228;MQ=59.15;MQ0=0;MQRankSum=-0.145;QD=12.51;ReadPosRankSum=-0.335;VQSLOD=3.8949;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,102:222:99:2807,0,3084 6 30166266 30166266 C T exonic TRIM26 synonymous SNV TRIM26:NM_001242783:exon4:c.G474A:p.R158R,TRIM26:NM_003449:exon5:c.G474A:p.R158R 0.23 0.4 0.16 0.11 0.18 0.22 0.1861 0.3525 0.1297 0.0972 0.0918 0.1835 0.1628 0.2287 0.25 0.33 0.2 0.22 . rs2523721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1831 0.3540 0.1343 0.2129 0.0890 0.0979 0.1941 0.1866 0.2228 0.2198 0.3429 0.1543 0.1755 0.0778 0.1173 0.1946 0.1806 het 2045.47 181 6 30166266 . C T 2045.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.964;DP=181;Dels=0.00;FS=2.691;HRun=0;HaplotypeScore=0.9332;MQ=58.77;MQ0=0;MQRankSum=1.543;QD=11.30;ReadPosRankSum=0.369;VQSLOD=6.2184;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,84:181:99:2075,0,2692 6 30313268 30313268 G A exonic RPP21;TRIM39-RPP21 synonymous SNV RPP21:NM_001199120:exon3:c.G183A:p.R61R,RPP21:NM_001199121:exon3:c.G159A:p.R53R,RPP21:NM_024839:exon3:c.G159A:p.R53R,TRIM39-RPP21:NM_001199119:exon8:c.G1206A:p.R402R 0.15 0.026 0.2 0.24 0.26 0.095 0.2579 0.0630 0.2292 0.3206 0.4004 0.3039 0.2215 0.1240 0.18 0.059 0.25 0.12 . rs11967 COSM3761803;COSM3761804 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2259 0.0445 0.2010 0.1418 0.2992 0.3523 0.2611 0.2029 0.1131 0.2153 0.0513 0.1802 0.1556 0.3199 0.3431 0.2707 0.2464 het 224.05 35 6 30313268 . G A 224.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.091;DP=35;Dels=0.00;FS=1.524;HRun=0;HaplotypeScore=1.8401;MQ=60.00;MQ0=0;MQRankSum=1.369;QD=6.40;ReadPosRankSum=2.392;VQSLOD=4.2302;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,10:35:99:254,0,667 6 30457732 30457732 T C exonic HLA-E synonymous SNV HLA-E:NM_005516:exon2:c.T294C:p.N98N 0.72 0.74 0.64 0.71 0.67 0.84 0.7036 0.7406 0.7079 0.7297 0.6699 0.6677 0.7202 0.8187 0.7 0.74 0.67 0.77 . rs1059510 COSM4160557 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7025 0.7464 0.7036 0.7841 0.7262 0.6760 0.6613 0.6904 0.8086 0.6923 0.7601 0.7081 0.8033 0.7036 0.6954 0.6478 0.6929 het 1941.35 121 6 30457732 . T C 1941.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.359;DP=121;Dels=0.00;FS=1.509;HRun=1;HaplotypeScore=7.5869;MQ=58.85;MQ0=0;MQRankSum=0.478;QD=16.04;ReadPosRankSum=0.562;VQSLOD=4.5976;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,72:121:99:1971,0,1225 6 30458064 30458064 G A exonic HLA-E nonsynonymous SNV HLA-E:NM_005516:exon3:c.G382A:p.G128R 0.51 0.57 0.53 0.34 0.57 0.54 0.5391 0.5631 0.5407 0.3904 0.4676 0.5607 0.5149 0.5481 0.56 0.56 0.57 0.55 . rs1264457 . . . . . . . . . . . . . 0.051 0.393 T 0.696 0.398 P 0.073 0.266 B 0.222 0.161 N 0.989 0.244 P . . . 9.11 0.000 T -6.29 0.907 D 0.021 0.005 -1.271 0.000 T 0.000 0.000 T . . . 3.158 0.439 22.6 0.974 0.332 0.019 0.057 N c -0.707 -0.817 1.000 0.747 0.789 0.998 0 0.764 0.175 1.023 0.295 0.851 0.350 0.138 0.233 0.387 0.252 4.3 0.103 MHC class I alpha chain\x2c alpha1 alpha2 domains|MHC class I-like antigen recognition-like|MHC classes I/II-like antigen recognition protein ENSG00000204644.5|ENSG00000204644.5|ENSG00000204644.5|ENSG00000204592.5|ENSG00000204644.5|ENSG00000204644.5|ENSG00000204644.5|ENSG00000204644.5|ENSG00000204644.5|ENSG00000230795.2|ENSG00000204644.5 Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.5388 0.5655 0.5462 0.5426 0.3803 0.4834 0.5682 0.5355 0.5427 0.5501 0.5787 0.5465 0.5199 0.3753 0.5032 0.5650 0.5368 het 1498.91 112 6 30458064 . G A 1498.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.110;DP=112;Dels=0.00;FS=0.980;HRun=0;HaplotypeScore=1.9930;MQ=60.00;MQ0=0;MQRankSum=0.617;QD=13.38;ReadPosRankSum=1.246;VQSLOD=5.5386;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1529,0,1373 6 30515043 30515043 T C exonic GNL1 synonymous SNV GNL1:NM_005275:exon10:c.A1287G:p.A429A 0.022 0.012 0.022 . 0.079 . 0.0629 0.0272 0.0178 0.0002 0.0608 0.0983 0.0431 0.0002 0.081 0.034 0.11 0.054 . rs3130247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0625 0.0271 0.0196 0.0295 0.0001 0.0688 0.1078 0.0595 0.0001 0.0765 0.0273 0.0203 0.0331 0 0.0903 0.1136 0.0855 het 4124.57 249 6 30515043 . T C 4124.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.751;DP=249;DS;Dels=0.00;FS=2.592;HRun=3;HaplotypeScore=5.4679;MQ=59.48;MQ0=0;MQRankSum=-0.546;QD=16.56;ReadPosRankSum=0.470;VQSLOD=4.7629;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,117:249:99:3423,0,4002 6 30521137 30521137 G A exonic GNL1 synonymous SNV GNL1:NM_005275:exon6:c.C798T:p.D266D 0.66 0.66 0.56 0.62 0.67 0.76 0.6704 0.6648 0.5822 0.6649 0.6587 0.6632 0.6810 0.7708 0.66 0.66 0.66 0.75 . rs2074505 COSM4160559;COSM4160560 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6669 0.6634 0.5856 0.7703 0.6629 0.6632 0.6577 0.6619 0.7634 0.6624 0.6900 0.5895 0.7881 0.6601 0.6742 0.6446 0.6742 het 2374.74 200 6 30521137 . G A 2374.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.360;DP=200;Dels=0.00;FS=2.443;HRun=0;HaplotypeScore=4.7777;MQ=59.31;MQ0=0;MQRankSum=1.591;QD=11.87;ReadPosRankSum=-2.038;VQSLOD=4.7142;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,99:200:99:2405,0,2607 6 30530245 30530245 T C exonic PRR3 synonymous SNV PRR3:NM_001077497:exon3:c.T477C:p.H159H,PRR3:NM_025263:exon4:c.T540C:p.H180H 0.75 0.84 0.62 0.7 0.7 0.84 0.7215 0.8382 0.6627 0.7114 0.6773 0.6950 0.7456 0.8224 0.75 0.84 0.7 0.86 . rs2074504 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7169 0.8425 0.6628 0.8345 0.7034 0.6834 0.6870 0.7154 0.8170 0.7286 0.8490 0.6627 0.8344 0.6832 0.6940 0.6739 0.7143 het 4340.37 243 6 30530245 . T C 4340.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.906;DP=243;DS;Dels=0.00;FS=1.739;HRun=2;HaplotypeScore=4.7495;MQ=59.02;MQ0=0;MQRankSum=-0.481;QD=17.79;ReadPosRankSum=-0.366;VQSLOD=4.2238;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,127:243:99:3689,0,3081 6 30558477 30558477 - A exonic ABCF1 nonframeshift insertion ABCF1:NM_001090:exon24:c.2424dupA:p.X808delinsX,ABCF1:NM_001025091:exon25:c.2538dupA:p.X846delinsX 0.71 0.73 0.59 0.67 0.68 0.86 0.6999 0.7309 0.6378 0.6911 0.6664 0.6737 0.7163 0.8518 0.7 0.73 0.68 . . rs72545970 COSM4603566 21(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6956 0.7344 0.6356 0.7796 0.6841 0.6694 0.6682 0.6851 0.8414 0.6885 0.7544 0.6295 0.7933 0.6716 0.6784 0.6551 0.6952 het 2639.34 132 6 30558477 . G GA 2639.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.585;DP=132;DS;FS=3.083;HRun=1;HaplotypeScore=321.2259;MQ=59.71;MQ0=0;MQRankSum=-1.155;QD=20.00;ReadPosRankSum=0.929;set=variant2 GT:AD:DP:GQ:PL 0/1:64,68:132:99:2678,0,2008 6 30652781 30652781 C T exonic PPP1R18 nonsynonymous SNV PPP1R18:NM_133471:exon1:c.G1015A:p.G339R,PPP1R18:NM_001134870:exon2:c.G1015A:p.G339R 0.019 0.0023 0.02 . 0.08 . 0.0594 0.0162 0.0172 0.0002 0.0608 0.0959 0.0426 0.0003 0.074 0.019 0.1 0.043 . rs9262143 . . . . . . . . . . . . . 0.02 0.496 D 0.999 0.764 D 0.927 0.644 D 0.069 0.216 N 0.950 0.377 D 1.895 0.505 L 0.51 0.555 T -1.16 0.297 N 0.219 0.321 -0.928 0.444 T 0.164 0.501 T . . . 6.785 0.924 32 0.999 0.977 0.925 0.556 D c 0.463 0.487 1.000 0.747 0.742 0.980 0 5.1 0.688 1.827 0.385 0.935 0.490 0.883 0.308 0.959 0.439 17.266 0.869 . ENSG00000204536.9|ENSG00000204525.10|ENSG00000137411.12|ENSG00000146112.7|ENSG00000204525.10|ENSG00000228078.1|ENSG00000204622.6|ENSG00000204525.10|ENSG00000236475.1|ENSG00000204525.10|ENSG00000204525.10|ENSG00000146112.7|ENSG00000204622.6|ENSG00000206341.6|ENSG00000137312.10|ENSG00000204632.7|ENSG00000204622.6|ENSG00000206341.6|ENSG00000204525.10|ENSG00000204536.9|ENSG00000231402.1|ENSG00000204525.10|ENSG00000137411.12|ENSG00000204525.10|ENSG00000204536.9|ENSG00000146112.7|ENSG00000137312.10|ENSG00000214922.5|ENSG00000214894.2|ENSG00000204622.6|ENSG00000204536.9|ENSG00000206341.6|ENSG00000230795.2|ENSG00000204632.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.0606 0.0171 0.0185 0.0284 0.0001 0.0678 0.1076 0.0563 0.0003 0.0740 0.0178 0.0227 0.0331 0 0.0897 0.1141 0.0837 het 2699.91 203 6 30652781 . C T 2699.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.047;DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4821;MQ=59.00;MQ0=0;MQRankSum=2.290;QD=13.30;ReadPosRankSum=-0.804;VQSLOD=4.1793;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,101:203:99:2730,0,2510 6 30711805 30711805 C G exonic IER3 nonsynonymous SNV IER3:NM_003897:exon2:c.G379C:p.A127P 0.97 1. 0.94 0.99 0.92 0.98 0.9426 0.9867 0.9683 0.9962 0.91 0.9184 0.9356 0.9804 0.94 0.98 0.91 0.95 . rs3094124 . . . . . . . . . . . . . 0.963 0.021 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.196 P -1.895 0.002 N 0.92 0.445 T 0.18 0.050 N 0.032 0.012 -0.974 0.364 T 0.010 0.035 T . . . -0.131 0.082 1.513 0.480 0.039 0.005 0.024 N c -1.390 -1.268 1.000 0.747 0.726 0.872 0 3.5 0.390 1.187 0.315 0.073 0.181 0.121 0.230 0.040 0.157 10.715 0.450 . ENSG00000271581.1|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000204574.8|ENSG00000206503.7|ENSG00000204574.8|ENSG00000227766.1|ENSG00000271581.1|ENSG00000227766.1|ENSG00000204574.8|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000204574.8|ENSG00000227766.1|ENSG00000206503.7|ENSG00000227766.1|ENSG00000271581.1|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000230795.2|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000227766.1|ENSG00000227766.1|ENSG00000137310.7|ENSG00000206503.7|ENSG00000230795.2|ENSG00000204540.6|ENSG00000271581.1|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000206503.7|ENSG00000227766.1|ENSG00000227766.1|ENSG00000230795.2|ENSG00000271581.1|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000271581.1|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000204574.8|ENSG00000230795.2|ENSG00000227766.1|ENSG00000206503.7|ENSG00000204574.8|ENSG00000227766.1|ENSG00000204622.6|ENSG00000271581.1|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7|ENSG00000230795.2|ENSG00000204574.8|ENSG00000271581.1|ENSG00000227766.1|ENSG00000206503.7|ENSG00000230795.2|ENSG00000204574.8|ENSG00000206344.6|ENSG00000230795.2|ENSG00000271581.1|ENSG00000204580.7|ENSG00000227766.1|ENSG00000204622.6|ENSG00000206503.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.9417 0.9873 0.9653 0.9541 0.9962 0.9133 0.9140 0.9395 0.9799 0.9360 0.9858 0.9594 0.9503 0.9988 0.9175 0.9027 0.9385 het 436.82 40 6 30711805 . C G 436.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.724;DP=40;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.246;QD=10.92;ReadPosRankSum=1.696;VQSLOD=10.2641;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,17:40:99:467,0,707 6 30862423 30862423 C T exonic DDR1 nonsynonymous SNV DDR1:NM_001202522:exon10:c.C1406T:p.P469L 0.13 0.18 0.095 0.059 0.16 0.12 0.1676 0.1845 0.1153 0.0759 0.1283 0.1914 0.1523 0.1622 0.2 0.19 0.2 0.16 . rs1264319 COSM3761810;COSM3761811;COSM3761812;COSM3761809 1(breast);3(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.308 0.141 T 0.0 0.026 B 0.0 0.013 B . . . 0.023 0.588 P . . . -1.19 0.784 T -0.95 0.253 N . . -1.073 0.087 T 0.064 0.266 T . . . 2.508 0.363 19.52 0.881 0.172 0.019 0.058 N c -0.157 -0.109 1.000 0.446 0.707 0.730 0 2.73 0.311 0.438 0.211 -0.903 0.026 0.983 0.354 0.970 0.461 7.481 0.264 . ENSG00000137411.12|ENSG00000137411.12|ENSG00000204622.6|ENSG00000196260.3|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000214894.2|ENSG00000137411.12 Cells_EBV-transformed_lymphocytes|Colon_Transverse|Lung|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood|Whole_Blood 0.1623 0.1859 0.1153 0.1454 0.0766 0.1326 0.1969 0.1500 0.1525 0.1792 0.1869 0.1098 0.1433 0.0900 0.1429 0.1983 0.1677 het 1732.35 114 6 30862423 . C T 1732.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.091;DP=114;Dels=0.00;FS=1.545;HRun=0;HaplotypeScore=8.0845;MQ=59.47;MQ0=0;MQRankSum=-0.835;QD=15.20;ReadPosRankSum=0.800;VQSLOD=4.2275;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,67:114:99:1762,0,1101 6 30864829 30864829 T C exonic DDR1 synonymous SNV DDR1:NM_001202522:exon11:c.T1470C:p.V490V,DDR1:NM_001202523:exon13:c.T1851C:p.V617V,DDR1:NM_001297652:exon13:c.T1797C:p.V599V,DDR1:NM_001297653:exon13:c.T1797C:p.V599V,DDR1:NM_013994:exon13:c.T1908C:p.V636V,DDR1:NM_001297654:exon14:c.T1908C:p.V636V,DDR1:NM_001954:exon15:c.T1797C:p.V599V,DDR1:NM_013993:exon15:c.T1908C:p.V636V 0.54 0.45 0.52 0.67 0.38 0.68 0.4631 0.4523 0.6052 0.6532 0.3819 0.3839 0.4130 0.6260 0.41 0.46 0.38 0.54 . rs1049623 COSM1178502;COSM1178504;COSM1178503;COSM3761813 10(soft_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4689 0.4575 0.5946 0.4116 0.6567 0.3869 0.3853 0.4260 0.6207 0.4341 0.4650 0.5692 0.3808 0.6677 0.4067 0.3901 0.4447 het 3100.91 230 6 30864829 . T C 3100.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.850;DP=230;DS;Dels=0.00;FS=1.099;HRun=0;HaplotypeScore=10.1889;MQ=59.49;MQ0=1;MQRankSum=-0.526;QD=13.48;ReadPosRankSum=-0.993;VQSLOD=4.0111;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,110:230:99:3131,0,3341 6 30893728 30893728 C T exonic VARS2 synonymous SNV VARS2:NM_001167733:exon28:c.C2613T:p.D871D,VARS2:NM_001167734:exon29:c.C3123T:p.D1041D,VARS2:NM_020442:exon29:c.C3033T:p.D1011D 0.71 0.46 0.7 0.87 0.71 0.88 0.7530 0.4929 0.7557 0.8755 0.7787 0.7434 0.7420 0.8609 0.65 0.51 0.73 0.72 . rs1043483 COSM4160586 1(thyroid) Benign not_specified RCV000428527.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7541 0.4904 0.7472 0.7732 0.8788 0.7715 0.7370 0.7282 0.8607 0.6828 0.4971 0.7422 0.7848 0.8920 0.7760 0.7355 0.7653 het 1620.30 136 6 30893728 . C T 1620.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.883;DP=136;Dels=0.00;FS=14.616;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=-0.554;QD=11.91;ReadPosRankSum=0.373;VQSLOD=4.1763;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,62:136:99:1650,0,2038 6 30893941 30893941 G A exonic VARS2 nonsynonymous SNV VARS2:NM_001167733:exon29:c.G2726A:p.R909Q,VARS2:NM_001167734:exon30:c.G3236A:p.R1079Q,VARS2:NM_020442:exon30:c.G3146A:p.R1049Q 0.09 0.097 0.066 0.026 0.16 0.099 0.1467 0.1203 0.0598 0.0342 0.1248 0.1873 0.1322 0.1331 0.17 0.12 0.19 0.12 . rs4678 . . Benign not_specified RCV000439193.1 MedGen CN169374 . . . . . . 1.0 0.019 T 0.078 0.229 B 0.016 0.166 B 0.418 0.046 N 1 0.090 P 0.11 0.085 N 1.5 0.312 T 0.43 0.033 N 0.031 0.091 -1.046 0.154 T 0.009 0.031 T . . . 0.443 0.137 6.977 0.624 0.068 0.018 0.055 N c -1.574 -1.587 1.000 0.747 0.707 0.730 0 -8.54 0.008 -0.972 0.039 -0.670 0.040 0.009 0.180 0.249 0.227 8.556 0.325 . ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000204536.9|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000196260.3|ENSG00000137411.12|ENSG00000204525.10|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000214894.2|ENSG00000137411.12 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood 0.1437 0.1213 0.0609 0.1552 0.0346 0.1296 0.1946 0.1382 0.1335 0.1579 0.1202 0.0716 0.1490 0.0382 0.1414 0.2014 0.1643 het 1669.57 122 6 30893941 . G A 1669.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.694;DP=122;Dels=0.00;FS=3.353;HRun=0;HaplotypeScore=4.8728;MQ=59.20;MQ0=0;MQRankSum=-1.710;QD=13.69;ReadPosRankSum=0.864;VQSLOD=4.4181;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,64:122:99:1700,0,1517 6 30899524 30899524 T C exonic SFTA2 nonsynonymous SNV SFTA2:NM_205854:exon2:c.A110G:p.N37S 0.082 0.097 0.066 0.022 0.16 0.061 0.1416 0.1197 0.0594 0.0268 0.1245 0.1871 0.1170 0.1033 0.17 0.12 0.19 0.12 . rs3131787 COSM3761815 1(large_intestine) . . . . . . . . . . . 0.063 0.367 T 0.408 0.332 B 0.065 0.259 B . . . 1 0.090 P . . . 0.83 0.478 T -2.67 0.571 D 0.062 0.047 -1.091 0.054 T 0.035 0.149 T . . . 1.411 0.233 12.85 0.988 0.457 0.051 0.108 N c -0.628 -0.698 0.674 0.224 0.403 0.052 0 2.96 0.332 1.304 0.329 0.895 0.411 0.012 0.185 0.005 0.090 5.955 0.184 . ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000204536.9|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000196260.3|ENSG00000137411.12|ENSG00000204525.10|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000214894.2|ENSG00000137411.12 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood 0.1391 0.1208 0.0609 0.1552 0.0267 0.1294 0.1941 0.1347 0.1042 0.1571 0.1193 0.0716 0.1490 0.0290 0.1415 0.2012 0.1629 het 1272.12 104 6 30899524 . T C 1272.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.322;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8299;MQ=58.12;MQ0=0;MQRankSum=0.868;QD=12.23;ReadPosRankSum=0.716;VQSLOD=5.5392;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,50:104:99:1302,0,1241 6 30920124 30920124 G A exonic DPCR1 nonsynonymous SNV DPCR1:NM_080870:exon2:c.G3883A:p.E1295K 0.038 0.038 0.029 0.016 0.096 0.0092 0.0803 0.0631 0.0293 0.0219 0.0676 0.1171 0.0563 0.0154 0.11 0.07 0.13 0.11 . rs3132580 COSM5904824;COSM5904825;COSM5904826 1(skin) . . . . . . . . . . . . . . 0.032 0.189 B 0.009 0.133 B . . . 1 0.090 P . . . 1.86 0.243 T -0.23 0.107 N 0.042 0.022 -0.974 0.363 T 0.005 0.018 T . . . -0.169 0.078 1.270 0.575 0.057 0.004 0.021 N c -1.812 -1.896 1.000 0.747 0.495 0.175 0 -7.22 0.013 -0.989 0.038 -0.742 0.035 0.000 0.063 0.000 0.016 3.183 0.062 . ENSG00000204536.9|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000204525.10|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000137411.12|ENSG00000204536.9|ENSG00000137411.12|ENSG00000137411.12|ENSG00000204616.6|ENSG00000204622.6|ENSG00000137411.12|ENSG00000204622.6|ENSG00000204525.10|ENSG00000204536.9|ENSG00000137411.12|ENSG00000231402.1|ENSG00000204622.6|ENSG00000137411.12|ENSG00000137411.12|ENSG00000204622.6|ENSG00000204536.9|ENSG00000137411.12|ENSG00000146112.7|ENSG00000214894.2|ENSG00000204536.9|ENSG00000204525.10|ENSG00000137411.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.0804 0.0629 0.0310 0.0618 0.0206 0.0751 0.1278 0.0799 0.0143 0.1011 0.0630 0.0430 0.0695 0.0210 0.0953 0.1370 0.1029 het 1588.82 133 6 30920124 . G A 1588.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.702;DP=133;Dels=0.00;FS=2.254;HRun=1;HaplotypeScore=4.9238;MQ=59.37;MQ0=0;MQRankSum=0.241;QD=11.95;ReadPosRankSum=1.270;VQSLOD=5.4365;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,62:133:99:1619,0,1781 6 30954245 30954245 T C exonic MUC21 nonsynonymous SNV MUC21:NM_001010909:exon2:c.T293C:p.V98A 0.71 0.86 0.74 0.59 0.72 0.6 0.6970 0.8321 0.6464 0.6316 0.6867 0.7149 0.6685 0.6152 0.75 0.82 0.72 0.7 . rs1634730 COSM451184 1(large_intestine) . . . . . . . . . . . 0.73 0.038 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.69 0.170 N 4.11 0.029 T 0.76 0.020 N 0.022 0.005 -0.950 0.410 T 0.002 0.005 T . . . -1.912 0.009 0.002 0.166 0.005 0.001 0.007 N c -1.664 -1.724 0.620 0.219 0.497 0.185 0 -1.98 0.070 -2.092 0.014 -3.188 0.001 0.000 0.063 0.000 0.016 8.033 0.295 Tandem-repeating region of mucin\x2c epiglycanin-like ENSG00000146112.7|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000261272.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000272221.1|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Vagina|Whole_Blood . . . . . . . . . 0.7436 0.8315 0.6938 0.8255 0.6392 0.6980 0.7176 0.7034 het 2836.43 250 6 30954245 . T C 2836.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.483;DP=250;DS;Dels=0.00;FS=5.235;HRun=0;HaplotypeScore=8.3262;MQ=59.26;MQ0=0;MQRankSum=-0.276;QD=11.35;ReadPosRankSum=1.241;VQSLOD=3.5152;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:143,107:250:99:2866,0,3967 6 30954873 30954873 G A exonic MUC21 synonymous SNV MUC21:NM_001010909:exon2:c.G921A:p.T307T 0.14 0.11 0.26 0.043 0.24 0.11 0.2236 0.1444 0.2485 0.0645 0.2256 0.2760 0.2445 0.1259 0.24 0.16 0.28 0.087 . rs1625781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2035 0.1137 0.2086 0.2802 0.0444 0.2227 0.2544 0.2126 0.1120 0.2308 0.1496 0.3045 0.2808 0.0702 0.2525 0.2851 0.2520 het 2687.17 250 6 30954873 . G A 2687.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.854;DP=250;DS;Dels=0.00;FS=1.039;HRun=1;HaplotypeScore=9.5784;MQ=58.32;MQ0=3;MQRankSum=-0.252;QD=10.75;ReadPosRankSum=-0.368;VQSLOD=3.3800;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:150,100:250:99:2717,0,3935 6 31079236 31079236 G A exonic C6orf15 synonymous SNV C6orf15:NM_014070:exon2:c.C900T:p.V300V 0.53 0.55 0.57 0.49 0.51 0.55 0.5370 0.5511 0.5207 0.4836 0.5027 0.5260 0.5475 0.6242 0.56 0.57 0.55 0.52 . rs1265055 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5368 0.5534 0.5157 0.6907 0.4777 0.4947 0.5180 0.5453 0.6321 0.5232 0.5517 0.5383 0.6767 0.4732 0.5115 0.5102 0.5327 het 317.83 37 6 31079236 . G A 317.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.088;DP=37;Dels=0.00;FS=3.145;HRun=1;HaplotypeScore=0.0000;MQ=58.82;MQ0=0;MQRankSum=-0.077;QD=8.59;ReadPosRankSum=1.222;VQSLOD=5.2988;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,15:37:99:348,0,604 6 31079643 31079643 T C exonic C6orf15 nonsynonymous SNV C6orf15:NM_014070:exon2:c.A493G:p.K165E 0.53 0.55 0.57 0.49 0.51 0.55 0.5371 0.5518 0.5199 0.4852 0.5035 0.5260 0.5450 0.6244 0.56 0.58 0.56 0.47 . rs1265054 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.466 0.123 N 1 0.090 P -0.83 0.015 N 3.56 0.047 T 2.5 0.002 N 0.018 0.005 -0.928 0.445 T 0.001 0.004 T . . . -1.701 0.013 0.002 0.299 0.016 0.000 0.002 N c -1.601 -1.507 0.995 0.338 0.497 0.185 0 2.48 0.291 -0.075 0.113 -0.454 0.056 0.000 0.063 0.001 0.043 6.228 0.198 . ENSG00000228789.2|ENSG00000204528.3|ENSG00000228789.2|ENSG00000228789.2|ENSG00000204528.3|ENSG00000228789.2|ENSG00000228789.2|ENSG00000228789.2|ENSG00000228789.2|ENSG00000137310.7|ENSG00000228789.2|ENSG00000228789.2|ENSG00000204531.11|ENSG00000204421.2|ENSG00000261272.1|ENSG00000228789.2|ENSG00000228789.2|ENSG00000228789.2|ENSG00000204528.3|ENSG00000228789.2|ENSG00000204531.11|ENSG00000204536.9|ENSG00000204528.3|ENSG00000228789.2|ENSG00000204531.11|ENSG00000244731.3|ENSG00000204528.3|ENSG00000228789.2|ENSG00000204528.3|ENSG00000228789.2|ENSG00000204531.11|ENSG00000228789.2|ENSG00000204531.11|ENSG00000228789.2|ENSG00000137310.7|ENSG00000196260.3|ENSG00000204536.9|ENSG00000204528.3|ENSG00000137411.12|ENSG00000244731.3|ENSG00000228789.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5373 0.5533 0.5162 0.6908 0.4793 0.4957 0.5184 0.5458 0.6322 0.5232 0.5510 0.5407 0.67 0.4734 0.5112 0.5107 0.5338 het 991.79 70 6 31079643 . T C 991.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.656;DP=70;Dels=0.00;FS=3.363;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=-0.656;QD=14.17;ReadPosRankSum=0.728;VQSLOD=6.1079;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,38:70:99:1022,0,793 6 31079644 31079644 G A exonic C6orf15 synonymous SNV C6orf15:NM_014070:exon2:c.C492T:p.P164P 0.024 0.0083 0.032 . 0.086 . 0.0660 0.0263 0.0252 0.0002 0.0674 0.1050 0.0428 0.0002 0.077 0.028 0.1 . . rs2233980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0671 0.0256 0.0265 0.0428 0.0001 0.0737 0.1155 0.0663 0.0002 0.0809 0.0242 0.0360 0.0596 0 0.0922 0.1225 0.0900 het 978.54 70 6 31079644 . G A 978.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.799;DP=70;Dels=0.00;FS=3.243;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=0.884;QD=13.98;ReadPosRankSum=0.896;VQSLOD=5.7246;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,38:70:99:1009,0,814 6 31079889 31079889 C G exonic C6orf15 nonsynonymous SNV C6orf15:NM_014070:exon2:c.G247C:p.A83P 0.53 0.55 0.56 0.49 0.51 0.55 0.5338 0.5516 0.5163 0.4828 0.5033 0.5235 0.5419 0.6150 0.53 0.55 0.52 0.51 . rs1265053 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.582 0.111 N 1 0.090 P -1.735 0.003 N 3.62 0.044 T 4.54 0.000 N 0.021 0.010 -0.935 0.434 T 0.001 0.003 T . . . -1.841 0.010 0.002 0.416 0.030 0.000 0.002 N c -1.935 -1.772 0.996 0.343 0.497 0.185 0 2.79 0.317 1.046 0.298 -0.281 0.084 0.009 0.180 0.000 0.016 8.024 0.294 . ENSG00000228789.2|ENSG00000204528.3|ENSG00000228789.2|ENSG00000228789.2|ENSG00000204528.3|ENSG00000228789.2|ENSG00000228789.2|ENSG00000228789.2|ENSG00000228789.2|ENSG00000137310.7|ENSG00000228789.2|ENSG00000228789.2|ENSG00000204531.11|ENSG00000204421.2|ENSG00000261272.1|ENSG00000228789.2|ENSG00000228789.2|ENSG00000228789.2|ENSG00000204528.3|ENSG00000228789.2|ENSG00000204531.11|ENSG00000204536.9|ENSG00000204528.3|ENSG00000228789.2|ENSG00000204531.11|ENSG00000244731.3|ENSG00000204528.3|ENSG00000228789.2|ENSG00000204528.3|ENSG00000228789.2|ENSG00000204531.11|ENSG00000228789.2|ENSG00000204531.11|ENSG00000228789.2|ENSG00000137310.7|ENSG00000196260.3|ENSG00000204536.9|ENSG00000204528.3|ENSG00000137411.12|ENSG00000244731.3|ENSG00000228789.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5343 0.5526 0.5118 0.6888 0.4776 0.4953 0.5164 0.5420 0.6239 0.5219 0.5519 0.5359 0.6722 0.4694 0.5112 0.5079 0.5329 het 1892.46 121 6 31079889 . C G 1892.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.293;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6360;MQ=59.04;MQ0=0;MQRankSum=1.679;QD=15.64;ReadPosRankSum=-0.221;VQSLOD=3.7707;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,66:121:99:1922,0,1594 6 31080016 31080016 C G exonic C6orf15 nonsynonymous SNV C6orf15:NM_014070:exon2:c.G120C:p.L40F 0.11 0.12 0.11 0.047 0.15 0.1 0.1387 0.1354 0.0792 0.0510 0.1080 0.1731 0.1253 0.1016 0.16 0.13 0.18 0.15 . rs2233974 . . . . . . . . . . . . . 0.165 0.232 T 0.99 0.615 D 0.858 0.593 P 0.482 0.050 N 1 0.090 P 1.59 0.404 L 3.22 0.070 T -2.1 0.478 N 0.031 0.034 -1.046 0.154 T 0.021 0.091 T . . . 1.645 0.259 14.10 0.990 0.499 0.041 0.094 N c -0.436 -0.636 0.996 0.347 0.497 0.185 0 2.65 0.305 -0.050 0.118 -0.341 0.072 0.000 0.063 0.001 0.043 6.734 0.224 . ENSG00000271581.1|ENSG00000231852.2|ENSG00000244731.3|ENSG00000228789.2|ENSG00000244731.3|ENSG00000204338.4|ENSG00000271581.1|ENSG00000244731.3|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204338.4|ENSG00000271581.1|ENSG00000224389.4|ENSG00000244731.3|ENSG00000271581.1|ENSG00000244731.3|ENSG00000204516.5|ENSG00000261272.1|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000271581.1|ENSG00000244731.3|ENSG00000271581.1|ENSG00000206337.6|ENSG00000244731.3|ENSG00000204525.10|ENSG00000244731.3|ENSG00000228789.2|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204338.4|ENSG00000271581.1|ENSG00000244731.3|ENSG00000204338.4|ENSG00000271581.1|ENSG00000224389.4|ENSG00000231852.2|ENSG00000244731.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.1390 0.1392 0.0832 0.2552 0.0541 0.1122 0.1747 0.1469 0.1001 0.1521 0.1374 0.1098 0.3079 0.0537 0.1264 0.1774 0.1383 het 1933.84 184 6 31080016 . C G 1933.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.624;DP=184;Dels=0.00;FS=1.180;HRun=0;HaplotypeScore=2.5949;MQ=59.36;MQ0=0;MQRankSum=0.435;QD=10.51;ReadPosRankSum=0.102;VQSLOD=6.4393;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:100,84:184:99:1964,0,2497 6 31083813 31083813 T C exonic CDSN nonsynonymous SNV CDSN:NM_001264:exon2:c.A1579G:p.N527D 0.83 0.91 0.77 0.87 0.74 0.84 0.7639 0.8985 0.6812 0.8867 0.6384 0.7385 0.7408 0.8329 0.8 0.9 0.75 0.81 . rs3130981 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.284 0.038 N 1 0.090 P . . . 3.58 0.046 T 1.79 0.005 N 0.003 0.002 -0.954 0.403 T 0.001 0.005 T . . . -1.775 0.011 0.002 0.754 0.107 0.001 0.005 N c -1.020 -1.173 1.000 0.747 0.560 0.301 0 -1.19 0.090 -0.004 0.127 -0.394 0.063 0.000 0.063 0.000 0.016 4.482 0.111 . ENSG00000271581.1|ENSG00000204538.3|ENSG00000272501.1|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204538.3|ENSG00000204540.6|ENSG00000204538.3|ENSG00000271581.1|ENSG00000204538.3|ENSG00000204536.9|ENSG00000204525.10|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204538.3|ENSG00000272501.1|ENSG00000204536.9|ENSG00000204525.10|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204538.3|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204538.3|ENSG00000204536.9|ENSG00000206344.6|ENSG00000204540.6|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204538.3|ENSG00000272501.1|ENSG00000204538.3|ENSG00000272501.1|ENSG00000204540.6|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204538.3|ENSG00000206344.6|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204538.3|ENSG00000272501.1|ENSG00000204540.6|ENSG00000204538.3|ENSG00000272501.1|ENSG00000204536.9|ENSG00000271581.1|ENSG00000204538.3|ENSG00000272501.1|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204531.11|ENSG00000271581.1|ENSG00000204536.9|ENSG00000204525.10|ENSG00000271581.1|ENSG00000272501.1|ENSG00000204540.6|ENSG00000204540.6|ENSG00000271581.1|ENSG00000272501.1|ENSG00000204540.6|ENSG00000271581.1|ENSG00000272501.1|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204538.3|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204536.9|ENSG00000271581.1|ENSG00000204538.3|ENSG00000272501.1|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204538.3|ENSG00000204540.6|ENSG00000271581.1|ENSG00000272501.1|ENSG00000204525.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.7571 0.8995 0.6861 0.8228 0.8895 0.6347 0.7356 0.7680 0.8364 0.7695 0.8952 0.6854 0.8423 0.8942 0.6345 0.7213 0.7106 het 1469.60 136 6 31083813 . T C 1469.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.880;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8499;MQ=59.65;MQ0=0;MQRankSum=0.606;QD=10.81;ReadPosRankSum=0.099;VQSLOD=5.0055;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,65:136:99:1500,0,1918 6 31084048 31084048 A G exonic CDSN synonymous SNV CDSN:NM_001264:exon2:c.T1344C:p.C448C 0.19 0.21 0.15 0.16 0.19 0.21 0.1878 0.2190 0.0946 0.1808 0.1201 0.2060 0.1386 0.1941 0.23 0.23 0.22 0.18 . rs3094216 COSM4003903 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1829 0.2171 0.0981 0.1566 0.1716 0.1248 0.2176 0.1703 0.1914 0.2021 0.2152 0.1098 0.1490 0.1570 0.1503 0.2186 0.1875 het 1021.94 79 6 31084048 . A G 1021.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.574;DP=79;Dels=0.00;FS=3.036;HRun=0;HaplotypeScore=3.3586;MQ=58.82;MQ0=0;MQRankSum=-0.593;QD=12.94;ReadPosRankSum=0.387;VQSLOD=5.5439;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,40:79:99:1052,0,1026 6 31084943 31084945 CTT - exonic CDSN nonframeshift deletion CDSN:NM_001264:exon2:c.447_449del:p.S153del 0.19 0.21 0.15 0.16 0.19 0.21 0.1871 0.2184 0.0946 0.1814 0.1194 0.2053 0.1382 0.1941 0.22 0.22 0.22 . . rs57244323 COSM1077524 2(upper_aerodigestive_tract);2(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1824 0.2173 0.0981 0.1570 0.1711 0.1241 0.2172 0.1704 0.1915 0.2010 0.2150 0.1089 0.1424 0.1549 0.1503 0.2171 0.1861 het 1563.32 89 6 31084942 . GCTT G 1563.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.144;DP=89;FS=4.612;HRun=0;HaplotypeScore=436.4322;MQ=57.45;MQ0=0;MQRankSum=-0.744;QD=17.57;ReadPosRankSum=0.877;set=variant2 GT:AD:DP:GQ:PL 0/1:52,37:89:99:1602,0,2758 6 31085269 31085269 A G exonic CDSN synonymous SNV CDSN:NM_001264:exon2:c.T123C:p.P41P 0.83 0.91 0.77 0.88 0.74 0.84 0.8099 0.8897 0.7550 0.8825 0.7042 0.7624 0.7611 0.8368 0.8 0.9 0.75 0.83 . rs3132552 COSM5352036 2(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7553 0.8973 0.6911 0.8186 0.8942 0.6305 0.7318 0.7754 0.8326 0.7703 0.8958 0.6862 0.8444 0.8974 0.6350 0.7221 0.7117 het 118.51 11 6 31085269 . A G 118.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DP=11;Dels=0.00;FS=2.463;HRun=3;HaplotypeScore=0.7340;MQ=58.29;MQ0=0;MQRankSum=1.408;QD=10.77;ReadPosRankSum=-1.532;VQSLOD=5.2409;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:149,0,165 6 31088145 31088145 T A exonic CDSN nonsynonymous SNV CDSN:NM_001264:exon1:c.A52T:p.M18L 0.1 0.12 0.078 0.062 0.18 0.056 0.2432 0.2020 0.1703 0.1877 0.2952 0.3103 0.1449 0.0870 0.19 0.14 0.21 0.12 . rs3095318 . . . . . . . . . . . . . 0.391 0.108 T 0.0 0.026 B 0.001 0.040 B 0.107 0.196 N 1.000 0.090 P 1.355 0.339 L 3.38 0.058 T -0.77 0.214 N 0.06 0.052 -0.923 0.452 T 0.002 0.007 T . . . -0.054 0.089 2.101 0.828 0.139 0.049 0.105 N c -1.121 -1.107 1.000 0.489 0.497 0.185 0 0.505 0.161 -0.019 0.124 1.046 0.672 0.004 0.165 0.477 0.267 0.831 0.010 . ENSG00000270604.1|ENSG00000231852.2|ENSG00000204540.6|ENSG00000204540.6|ENSG00000250535.1|ENSG00000244731.3|ENSG00000204540.6|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204540.6|ENSG00000244731.3|ENSG00000204540.6|ENSG00000204338.4|ENSG00000244731.3|ENSG00000228789.2|ENSG00000204540.6|ENSG00000204538.3|ENSG00000244731.3|ENSG00000228789.2|ENSG00000204540.6|ENSG00000256166.1|ENSG00000231402.1|ENSG00000204516.5|ENSG00000204540.6|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204540.6|ENSG00000204540.6|ENSG00000204538.3|ENSG00000204536.9|ENSG00000204540.6|ENSG00000214894.2|ENSG00000204338.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1455 0.1330 0.0687 0.0931 0.0981 0.1242 0.2127 0.1376 0.0650 0.1683 0.1273 0.0788 0.1060 0.0913 0.1464 0.2123 0.1667 het 257.69 18 6 31088145 . T A 257.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=18;Dels=0.00;FS=6.117;HRun=1;HaplotypeScore=0.9734;MQ=60.00;MQ0=0;MQRankSum=0.140;QD=14.32;ReadPosRankSum=0.515;VQSLOD=5.3005;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,12:18:99:288,0,139 6 31105891 31105891 A G exonic PSORS1C2 nonsynonymous SNV PSORS1C2:NM_014069:exon2:c.T248C:p.L83P 0.94 0.99 0.88 0.97 0.9 0.94 0.9050 0.9789 0.9118 0.9405 0.8652 0.8882 0.9082 0.9249 0.92 0.97 0.89 0.94 . rs2233952 COSM4160644 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.454 N 0.000 0.588 P -2.05 0.002 N 2.73 0.119 T 4.03 0.001 N 0.099 0.101 -0.915 0.463 T 0.003 0.010 T . . . 1.493 0.242 13.28 0.773 0.114 0.013 0.044 N c -0.792 -0.515 1.000 0.429 0.609 0.351 0 4.69 0.584 2.810 0.474 0.022 0.145 1.000 0.715 0.771 0.327 8.869 0.343 . ENSG00000201823.1|ENSG00000201823.1|ENSG00000137310.7|ENSG00000204528.3|ENSG00000206344.6|ENSG00000204538.3|ENSG00000204540.6|ENSG00000271581.1 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Testis|Testis|Whole_Blood 0.9030 0.9803 0.9066 0.9778 0.9399 0.8636 0.8826 0.8997 0.9207 0.9133 0.9737 0.9117 0.9669 0.9444 0.8723 0.8837 0.9082 het 752.94 78 6 31105891 . A G 752.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.039;DP=78;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.9536;MQ=57.64;MQ0=0;MQRankSum=1.297;QD=9.65;ReadPosRankSum=1.277;VQSLOD=4.7595;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,33:78:99:783,0,1079 6 31110391 31110391 G C exonic CCHCR1 nonsynonymous SNV CCHCR1:NM_001105563:exon18:c.C2486G:p.S829C,CCHCR1:NM_001105564:exon18:c.C2594G:p.S865C,CCHCR1:NM_019052:exon18:c.C2327G:p.S776C 0.22 0.23 0.28 0.072 0.31 0.24 0.2752 0.2431 0.2761 0.0833 0.3142 0.3104 0.2737 0.2378 0.3 0.25 0.32 0.24 . rs1576 COSM3761820;COSM3761821 1(large_intestine) . . . . . . . . . . . 0.137 0.287 T 0.0 0.026 B 0.001 0.040 B 0.001 0.006 N 1 0.090 P 0.285 0.101 N 3.83 0.037 T -1.19 0.303 N 0.049 0.065 -0.917 0.460 T 0.004 0.014 T . . . -0.710 0.044 0.068 0.669 0.079 0.025 0.069 N c -1.311 -1.443 1.000 0.489 0.742 0.980 0 -5.36 0.025 -0.473 0.066 -0.338 0.072 0.000 0.063 0.000 0.016 7.497 0.265 . ENSG00000272501.1|ENSG00000137310.7|ENSG00000204536.9|ENSG00000204525.10|ENSG00000204531.11|ENSG00000204536.9|ENSG00000272501.1|ENSG00000137310.7|ENSG00000204536.9|ENSG00000272221.1|ENSG00000272501.1|ENSG00000137310.7|ENSG00000204531.11|ENSG00000272221.1|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204536.9|ENSG00000228789.2|ENSG00000272221.1|ENSG00000204536.9|ENSG00000272501.1|ENSG00000204536.9|ENSG00000272501.1|ENSG00000204536.9|ENSG00000204536.9|ENSG00000272501.1|ENSG00000204536.9|ENSG00000272501.1|ENSG00000204463.8|ENSG00000204525.10|ENSG00000272501.1|ENSG00000204536.9|ENSG00000231402.1|ENSG00000137310.7|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000272221.1|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000272501.1|ENSG00000204536.9|ENSG00000204528.3|ENSG00000272501.1|ENSG00000196260.3|ENSG00000204536.9|ENSG00000272501.1|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2791 0.2379 0.2747 0.4355 0.0786 0.2980 0.3108 0.2966 0.2353 0.2814 0.2367 0.3019 0.3841 0.0786 0.3272 0.3130 0.3194 het 1181.95 101 6 31110391 . G C 1181.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DP=101;Dels=0.00;FS=18.683;HRun=0;HaplotypeScore=3.9639;MQ=59.54;MQ0=0;MQRankSum=0.785;QD=11.70;ReadPosRankSum=0.892;VQSLOD=2.2607;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,42:101:99:1212,0,1587 6 31111180 31111180 T C exonic CCHCR1 synonymous SNV CCHCR1:NM_001105563:exon16:c.A2070G:p.L690L,CCHCR1:NM_001105564:exon16:c.A2178G:p.L726L,CCHCR1:NM_019052:exon16:c.A1911G:p.L637L 0.72 0.72 0.77 0.7 0.74 0.69 0.7093 0.7320 0.7204 0.7042 0.7230 0.7082 0.7138 0.6897 0.72 0.74 0.71 0.69 . rs130073 COSM3761825;COSM3761824 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7080 0.7265 0.7200 0.7218 0.7013 0.7042 0.7065 0.7282 0.6897 0.7078 0.7262 0.7404 0.6821 0.7014 0.7115 0.6950 0.7147 het 735.68 68 6 31111180 . T C 735.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.625;DP=68;Dels=0.00;FS=7.203;HRun=0;HaplotypeScore=2.5367;MQ=59.39;MQ0=0;MQRankSum=-1.998;QD=10.82;ReadPosRankSum=-0.511;VQSLOD=3.8528;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,30:68:99:766,0,946 6 31112737 31112737 C A exonic CCHCR1 nonsynonymous SNV CCHCR1:NM_001105563:exon14:c.G1882T:p.G628C,CCHCR1:NM_001105564:exon14:c.G1990T:p.G664C,CCHCR1:NM_019052:exon14:c.G1723T:p.G575C 0.14 0.16 0.14 0.038 0.2 0.16 0.1784 0.1844 0.1107 0.0363 0.1347 0.2209 0.1438 0.1445 0.22 0.19 0.24 0.18 . rs130079 . . . . . . . . . . . . . 0.14 0.256 T 0.077 0.251 B 0.064 0.295 B 0.768 0.096 N 0.873 0.281 P 2.085 0.579 M 2.87 0.104 T -2.23 0.500 N 0.215 0.272 -1.016 0.249 T 0.015 0.058 T . . . 4.521 0.605 24.3 0.989 0.483 0.735 0.357 D c -0.260 -0.192 0.088 0.161 0.707 0.730 0 1.49 0.219 1.762 0.378 0.927 0.437 1.000 0.715 0.908 0.386 7.474 0.264 . ENSG00000204536.9|ENSG00000204525.10|ENSG00000204531.11|ENSG00000204536.9|ENSG00000204531.11|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000244731.3|ENSG00000137411.12|ENSG00000244731.3|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204525.10|ENSG00000204536.9|ENSG00000204525.10|ENSG00000204531.11|ENSG00000231402.1|ENSG00000204536.9|ENSG00000243753.1|ENSG00000204536.9|ENSG00000231074.4|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204540.6|ENSG00000204536.9|ENSG00000272501.1|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.1775 0.1811 0.1151 0.2954 0.0320 0.1349 0.2254 0.1923 0.1391 0.1937 0.1829 0.1304 0.2649 0.0340 0.1573 0.2279 0.1951 het 2121.84 148 6 31112737 . C A 2121.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.138;DP=148;Dels=0.00;FS=0.786;HRun=0;HaplotypeScore=7.1207;MQ=59.56;MQ0=0;MQRankSum=0.398;QD=14.34;ReadPosRankSum=-0.779;VQSLOD=4.3567;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,78:148:99:2152,0,1974 6 31113030 31113030 A G exonic CCHCR1 synonymous SNV CCHCR1:NM_001105563:exon13:c.T1681C:p.L561L,CCHCR1:NM_001105564:exon13:c.T1789C:p.L597L,CCHCR1:NM_019052:exon13:c.T1522C:p.L508L 0.86 0.94 0.89 0.82 0.82 0.83 0.8205 0.9157 0.8033 0.8147 0.8119 0.8097 0.8400 0.8244 0.84 0.91 0.8 0.67 0.033 rs3132539 COSM4160650;COSM4160651 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8179 0.9132 0.8056 0.9492 0.8130 0.7972 0.7986 0.8477 0.8254 0.8310 0.9107 0.8313 0.9470 0.8162 0.8015 0.7917 0.8163 het 691.76 72 6 31113030 . A G 691.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.089;DP=72;Dels=0.00;FS=6.592;HRun=0;HaplotypeScore=1.9950;MQ=60.00;MQ0=0;MQRankSum=-0.551;QD=9.61;ReadPosRankSum=0.195;VQSLOD=3.9313;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,29:72:99:722,0,1193 6 31113052 31113052 G A exonic CCHCR1 synonymous SNV CCHCR1:NM_001105563:exon13:c.C1659T:p.D553D,CCHCR1:NM_001105564:exon13:c.C1767T:p.D589D,CCHCR1:NM_019052:exon13:c.C1500T:p.D500D 0.66 0.58 0.79 0.53 0.75 0.72 0.7123 0.6126 0.7332 0.5327 0.7061 0.7412 0.7432 0.7370 0.7 0.63 0.73 0.59 . rs3094225 COSM4160653;COSM4160652 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7140 0.6025 0.7362 0.8901 0.5349 0.6876 0.7320 0.7532 0.7358 0.6777 0.6062 0.7632 0.8841 0.5352 0.6959 0.7192 0.7128 het 757 74 6 31113052 . G A 757 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.886;DP=74;Dels=0.00;FS=4.670;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.653;QD=10.23;ReadPosRankSum=-1.727;VQSLOD=5.4565;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,29:74:99:787,0,1306 6 31116210 31116210 G A exonic CCHCR1 synonymous SNV CCHCR1:NM_001105563:exon10:c.C1444T:p.L482L,CCHCR1:NM_001105564:exon10:c.C1552T:p.L518L,CCHCR1:NM_019052:exon10:c.C1285T:p.L429L 0.2 0.18 0.26 0.058 0.28 0.22 0.2488 0.2092 0.2630 0.0608 0.2691 0.2808 0.2477 0.2261 0.26 0.22 0.29 0.2 . rs130071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2519 0.2023 0.2598 0.3851 0.0574 0.2628 0.2814 0.2648 0.2183 0.2483 0.2012 0.2794 0.3467 0.0567 0.2854 0.2816 0.2856 het 2769.43 218 6 31116210 . G A 2769.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.852;DP=218;DS;Dels=0.00;FS=2.369;HRun=1;HaplotypeScore=11.7337;MQ=59.12;MQ0=0;MQRankSum=-1.055;QD=12.70;ReadPosRankSum=0.847;VQSLOD=3.0853;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,105:218:99:2799,0,3183 6 31118565 31118565 C G exonic CCHCR1 synonymous SNV CCHCR1:NM_001105563:exon6:c.G930C:p.V310V,CCHCR1:NM_001105564:exon6:c.G1038C:p.V346V,CCHCR1:NM_019052:exon6:c.G771C:p.V257V 0.73 0.73 0.8 0.68 0.78 0.68 0.7423 0.7445 0.7475 0.7020 0.7623 0.7553 0.7574 0.6983 0.75 0.75 0.75 0.69 . rs130078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7428 0.7400 0.7505 0.8570 0.7006 0.7424 0.7479 0.7720 0.7003 0.7409 0.7413 0.7816 0.8742 0.7053 0.7436 0.7385 0.7474 het 4030.55 250 6 31118565 . C G 4030.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.687;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.9853;MQ=59.48;MQ0=0;MQRankSum=0.362;QD=16.12;ReadPosRankSum=0.972;VQSLOD=4.5210;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,118:250:99:3356,0,3765 6 31122482 31122482 G A exonic CCHCR1 nonsynonymous SNV CCHCR1:NM_001105563:exon4:c.C484T:p.R162W,CCHCR1:NM_001105564:exon4:c.C592T:p.R198W,CCHCR1:NM_019052:exon4:c.C325T:p.R109W 0.12 0.13 0.089 0.039 0.19 0.16 0.1584 0.1496 0.0679 0.0364 0.1341 0.2000 0.1134 0.1422 0.19 0.16 0.21 0.17 . rs130076 COSM3761833;COSM3761832 2(large_intestine) . . . . . . . . . . . 0.064 0.386 T 0.005 0.239 B 0.002 0.198 B 0.300 0.146 N 1.000 0.209 P 2.045 0.562 M 3.42 0.055 T -3.14 0.748 D 0.247 0.432 -1.073 0.088 T 0.013 0.050 T . . . 4.406 0.590 24.1 0.999 0.946 0.164 0.192 N c -0.291 -0.245 1.000 0.747 0.732 0.924 0 5.33 0.756 1.173 0.313 1.038 0.658 0.108 0.227 0.574 0.284 14.564 0.676 . ENSG00000204536.9|ENSG00000204525.10|ENSG00000204531.11|ENSG00000204531.11|ENSG00000204536.9|ENSG00000204525.10|ENSG00000137411.12|ENSG00000204531.11|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204536.9|ENSG00000244731.3|ENSG00000137411.12|ENSG00000244731.3|ENSG00000204338.4|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204525.10|ENSG00000204536.9|ENSG00000204525.10|ENSG00000137411.12|ENSG00000231402.1|ENSG00000204536.9|ENSG00000204536.9|ENSG00000137411.12|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204540.6|ENSG00000196260.3|ENSG00000204536.9|ENSG00000224389.4|ENSG00000272501.1|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.1559 0.1428 0.0745 0.1815 0.0320 0.1333 0.2098 0.1627 0.1372 0.1726 0.1405 0.0899 0.1854 0.0333 0.1562 0.2144 0.1755 het 1118.04 71 6 31122482 . G A 1118.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.424;DP=71;Dels=0.00;FS=3.840;HRun=0;HaplotypeScore=5.5940;MQ=59.68;MQ0=0;MQRankSum=-0.019;QD=15.75;ReadPosRankSum=-1.688;VQSLOD=3.9894;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,40:71:99:1148,0,776 6 31122500 31122500 G A exonic CCHCR1 nonsynonymous SNV CCHCR1:NM_001105563:exon4:c.C466T:p.R156W,CCHCR1:NM_001105564:exon4:c.C574T:p.R192W,CCHCR1:NM_019052:exon4:c.C307T:p.R103W 0.12 0.12 0.079 0.039 0.19 0.15 0.1517 0.1278 0.0637 0.0360 0.1340 0.1951 0.1086 0.1285 0.18 0.14 0.2 0.14 . rs130065 COSM3761834;COSM3761835 2(large_intestine) . . . . . . . . . . . 0.039 0.446 D 0.019 0.279 B 0.002 0.253 B 0.073 0.214 N 0.285 0.358 P 2.085 0.579 M 3.2 0.073 T -4.18 0.882 D 0.296 0.426 -1.090 0.055 T 0.014 0.055 T . . . 5.134 0.692 25.4 0.999 0.971 0.641 0.320 D c 0.023 0.141 1.000 0.408 0.732 0.924 0 4.37 0.517 1.501 0.351 1.038 0.658 0.983 0.354 0.975 0.474 9.598 0.386 . ENSG00000204536.9|ENSG00000204525.10|ENSG00000137411.12|ENSG00000204531.11|ENSG00000204531.11|ENSG00000204536.9|ENSG00000204525.10|ENSG00000137411.12|ENSG00000204531.11|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000244731.3|ENSG00000224389.4|ENSG00000204536.9|ENSG00000244731.3|ENSG00000137411.12|ENSG00000244731.3|ENSG00000204338.4|ENSG00000204536.9|ENSG00000204536.9|ENSG00000196260.3|ENSG00000204536.9|ENSG00000204525.10|ENSG00000204536.9|ENSG00000204525.10|ENSG00000137411.12|ENSG00000231402.1|ENSG00000204536.9|ENSG00000204536.9|ENSG00000137411.12|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204536.9|ENSG00000204540.6|ENSG00000196260.3|ENSG00000204536.9|ENSG00000224389.4|ENSG00000272501.1|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.1490 0.1238 0.0686 0.1725 0.0316 0.1321 0.2049 0.1540 0.1228 0.1654 0.1211 0.0851 0.1788 0.0333 0.1553 0.2115 0.1721 het 701.75 58 6 31122500 . G A 701.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.070;DP=58;Dels=0.00;FS=6.141;HRun=0;HaplotypeScore=4.9891;MQ=58.80;MQ0=0;MQRankSum=1.574;QD=12.10;ReadPosRankSum=0.503;VQSLOD=4.5282;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,27:58:99:732,0,896 6 31124849 31124849 C T exonic CCHCR1 stopgain CCHCR1:NM_001105563:exon2:c.G234A:p.W78X,CCHCR1:NM_001105564:exon2:c.G234A:p.W78X 0.47 0.5 0.52 0.4 0.46 0.48 0.4756 0.5054 0.4770 0.3751 0.4156 0.4917 0.4583 0.4754 0.49 0.49 0.48 0.49 . rs3130453 COSM3761840 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 11.530 0.976 37 0.994 0.619 0.336 0.246 N c 0.679 0.503 1.000 0.467 0.732 0.924 0 3.71 0.416 0.265 0.181 0.927 0.437 0.783 0.293 0.984 0.507 6.222 0.198 . ENSG00000204538.3|ENSG00000272501.1|ENSG00000204540.6|ENSG00000272221.1|ENSG00000204538.3|ENSG00000204540.6|ENSG00000137310.7|ENSG00000206344.6|ENSG00000204540.6|ENSG00000204538.3|ENSG00000272501.1|ENSG00000206344.6|ENSG00000204540.6|ENSG00000204538.3|ENSG00000137310.7|ENSG00000204540.6|ENSG00000204540.6|ENSG00000204538.3|ENSG00000204531.11|ENSG00000204536.9|ENSG00000272501.1|ENSG00000204540.6|ENSG00000204540.6|ENSG00000272501.1|ENSG00000204540.6|ENSG00000204536.9|ENSG00000204538.3|ENSG00000272501.1|ENSG00000204540.6|ENSG00000272501.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4677 0.4906 0.4768 0.5942 0.3763 0.4052 0.4772 0.4935 0.4663 0.4689 0.4926 0.4784 0.6258 0.3781 0.4033 0.4777 0.4510 het 299.28 35 6 31124849 . C T 299.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.836;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.280;QD=8.55;ReadPosRankSum=-0.734;VQSLOD=11.2072;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,13:35:99:329,0,575 6 31129310 31129310 C T exonic TCF19 nonsynonymous SNV TCF19:NM_001077511:exon3:c.C325T:p.P109S,TCF19:NM_007109:exon3:c.C325T:p.P109S,TCF19:NM_001318908:exon4:c.C325T:p.P109S 0.024 0.0091 0.03 . 0.086 . 0.0713 0.0269 0.0250 0.0001 0.0672 0.1082 0.0443 0.0002 0.09 0.029 0.12 0.054 . rs7750641 . . . . . . . . . . . . . 0.274 0.205 T 0.001 0.067 B 0.001 0.040 B 0.360 0.137 N 1 0.090 N 1.995 0.543 M 2.05 0.221 T 0.1 0.431 N 0.058 0.044 -0.979 0.353 T 0.015 0.062 T . . . 1.064 0.196 11.02 0.939 0.233 0.037 0.089 N c -0.717 -0.714 1.000 0.747 0.635 0.413 0 -1.19 0.090 -0.183 0.096 0.927 0.437 0.099 0.226 0.948 0.423 4.314 0.103 SMAD/FHA domain ENSG00000231852.2|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000204525.10|ENSG00000204536.9|ENSG00000250535.1|ENSG00000204540.6|ENSG00000204338.4|ENSG00000234745.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000146112.7|ENSG00000204338.4|ENSG00000204525.10|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000224389.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204536.9|ENSG00000204525.10|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000234745.5|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000271581.1|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000256166.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000231402.1|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000224389.4|ENSG00000231852.2|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000204538.3|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204540.6|ENSG00000146112.7|ENSG00000137312.10|ENSG00000204338.4|ENSG00000224389.4|ENSG00000231852.2|ENSG00000214894.2|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.0700 0.0263 0.0280 0.0456 6.756e-05 0.0745 0.1159 0.0707 0.0002 0.0816 0.0257 0.0370 0.0596 0 0.0931 0.1230 0.0879 het 1326.38 106 6 31129310 . C T 1326.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.463;DP=106;Dels=0.00;FS=13.953;HRun=0;HaplotypeScore=4.9168;MQ=58.63;MQ0=0;MQRankSum=-0.007;QD=12.51;ReadPosRankSum=0.397;VQSLOD=3.7510;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,51:106:99:1356,0,1541 6 31129616 31129616 A G exonic TCF19 nonsynonymous SNV TCF19:NM_001077511:exon3:c.A631G:p.M211V,TCF19:NM_007109:exon3:c.A631G:p.M211V,TCF19:NM_001318908:exon4:c.A631G:p.M211V 0.77 0.87 0.81 0.68 0.78 0.68 0.7522 0.8498 0.7554 0.6970 0.7614 0.7577 0.7628 0.7012 0.79 0.86 0.76 0.71 . rs2073721 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.510 0.051 N 1 0.090 P -2.24 0.001 N 2.17 0.194 T 0.35 0.038 N 0.001 0.000 -0.940 0.426 T 0.004 0.012 T . . . -1.918 0.009 0.001 0.483 0.040 0.002 0.012 N c -1.366 -1.195 1.000 0.747 0.707 0.730 0 4.47 0.536 1.160 0.312 0.097 0.197 0.009 0.180 0.001 0.043 7.513 0.266 . ENSG00000271581.1|ENSG00000204538.3|ENSG00000228789.2|ENSG00000206344.6|ENSG00000204540.6|ENSG00000271581.1|ENSG00000271581.1|ENSG00000204538.3|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204538.3|ENSG00000204536.9|ENSG00000204525.10|ENSG00000204540.6|ENSG00000206344.6|ENSG00000271581.1|ENSG00000206344.6|ENSG00000271581.1|ENSG00000228789.2|ENSG00000271581.1|ENSG00000204538.3|ENSG00000204536.9|ENSG00000206344.6|ENSG00000204540.6|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000137310.7|ENSG00000204540.6|ENSG00000261272.1|ENSG00000271581.1|ENSG00000206344.6|ENSG00000271581.1|ENSG00000228789.2|ENSG00000271581.1|ENSG00000228789.2|ENSG00000206344.6|ENSG00000271581.1|ENSG00000271581.1|ENSG00000206344.6|ENSG00000204531.11|ENSG00000271581.1|ENSG00000204536.9|ENSG00000271581.1|ENSG00000228789.2|ENSG00000206344.6|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000228789.2|ENSG00000204540.6|ENSG00000204531.11|ENSG00000204538.3|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204536.9|ENSG00000271581.1|ENSG00000196260.3|ENSG00000206344.6|ENSG00000271581.1|ENSG00000234745.5|ENSG00000206344.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.7526 0.8485 0.7612 0.8577 0.7004 0.7424 0.7507 0.7812 0.7034 0.7725 0.8468 0.7924 0.8767 0.7048 0.7438 0.7413 0.7520 het 509.40 63 6 31129616 . A G 509.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.416;DP=63;Dels=0.00;FS=7.290;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=-0.663;QD=8.09;ReadPosRankSum=-1.290;VQSLOD=3.9821;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,21:63:99:539,0,1110 6 31129642 31129642 A C exonic TCF19 synonymous SNV TCF19:NM_001077511:exon3:c.A657C:p.P219P,TCF19:NM_007109:exon3:c.A657C:p.P219P,TCF19:NM_001318908:exon4:c.A657C:p.P219P 0.77 0.87 0.81 0.68 0.78 0.68 0.7523 0.8501 0.7550 0.6979 0.7620 0.7578 0.7628 0.7013 . . . 0.71 . rs2073722 COSM4160658 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7523 0.8483 0.7605 0.8574 0.7000 0.7421 0.7506 0.7805 0.7034 0.7726 0.847 0.7914 0.8733 0.7052 0.7435 0.7415 0.7505 het 704.91 70 6 31129642 . A C 704.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.418;DP=70;Dels=0.00;FS=4.790;HRun=2;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-0.226;QD=10.07;ReadPosRankSum=-2.560;VQSLOD=3.9630;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,29:70:99:735,0,1150 6 31138107 31138107 G A exonic POU5F1 synonymous SNV POU5F1:NM_002701:exon1:c.C291T:p.G97G 0.17 0.27 0.14 0.038 0.2 0.16 0.1836 0.2733 0.1164 0.0363 0.1351 0.2180 0.1422 0.1467 0.24 0.27 0.23 0.2 . rs1062630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1817 0.2663 0.1216 0.2782 0.0321 0.1349 0.2245 0.1954 0.1418 0.2173 0.2665 0.1325 0.2517 0.0339 0.1578 0.2280 0.1957 het 730.66 65 6 31138107 . G A 730.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.262;DP=65;Dels=0.00;FS=7.179;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=0.626;QD=11.24;ReadPosRankSum=0.585;VQSLOD=4.3644;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,30:65:99:761,0,847 6 31239101 31239101 G T exonic HLA-C nonsynonymous SNV HLA-C:NM_001243042:exon3:c.C368A:p.S123Y,HLA-C:NM_002117:exon3:c.C368A:p.S123Y 0.64 0.7 0.61 0.52 0.68 0.69 0.6560 0.6896 0.5460 0.4924 0.5972 0.7014 0.6675 0.6451 0.86 0.92 0.83 0.4 . rs1131115 COSM4160755;COSM4160756;COSM4160754 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.383 0.134 N 1 0.090 P . . . 9.66 0.000 T 4.94 0.000 N 0.088 0.632 -0.780 0.563 T 0.000 0.000 T . . . -3.284 0.001 0.001 0.668 0.079 0.002 0.012 N c -2.406 -2.555 1.0 0.983 0.789 0.998 0 -5.62 0.023 -2.478 0.011 -0.380 0.065 0.000 0.063 0.001 0.043 4.500 0.112 MHC class I alpha chain\x2c alpha1 alpha2 domains|MHC class I-like antigen recognition-like|MHC classes I/II-like antigen recognition protein ENSG00000271581.1|ENSG00000204538.3|ENSG00000234745.5|ENSG00000206344.6|ENSG00000204525.10|ENSG00000204540.6|ENSG00000272221.1|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272501.1|ENSG00000204525.10|ENSG00000204540.6|ENSG00000271581.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272501.1|ENSG00000204536.9|ENSG00000206344.6|ENSG00000204525.10|ENSG00000204540.6|ENSG00000272221.1|ENSG00000271581.1|ENSG00000272501.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000272501.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204538.3|ENSG00000204536.9|ENSG00000206344.6|ENSG00000204525.10|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000206344.6|ENSG00000272501.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204538.3|ENSG00000272501.1|ENSG00000137310.7|ENSG00000204528.3|ENSG00000206344.6|ENSG00000204525.10|ENSG00000204540.6|ENSG00000261272.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272501.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204536.9|ENSG00000206344.6|ENSG00000204525.10|ENSG00000272221.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272501.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000271581.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272501.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000204540.6|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000204538.3|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272501.1|ENSG00000206344.6|ENSG00000204525.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.6600 0.6941 0.5746 0.7574 0.5050 0.6069 0.7068 0.6911 0.6567 0.6753 0.7064 0.5934 0.7584 0.5114 0.6137 0.6942 0.6436 het 800.27 61 6 31239101 . G T 800.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.397;DP=61;Dels=0.00;FS=7.955;HRun=0;HaplotypeScore=0.0000;MQ=58.46;MQ0=0;MQRankSum=-0.123;QD=13.12;ReadPosRankSum=-0.557;VQSLOD=4.2334;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,33:61:99:830,0,811 6 31322888 31322888 A G exonic HLA-B synonymous SNV HLA-B:NM_005514:exon5:c.T1008C:p.S336S 0.82 0.88 0.77 0.75 0.76 0.9 0.7713 0.8507 0.7155 0.7377 0.7530 0.7419 0.7849 0.9034 0.77 0.83 0.74 0.71 . rs1140546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7660 0.8479 0.7204 0.6557 0.7369 0.7436 0.7480 0.7793 0.9043 0.7681 0.8373 0.7380 0.6333 0.7315 0.7509 0.7383 0.7938 het 2942.74 210 6 31322888 . A G 2942.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.819;DP=210;Dels=0.00;FS=1.729;HRun=0;HaplotypeScore=5.1845;MQ=59.36;MQ0=0;MQRankSum=0.176;QD=14.01;ReadPosRankSum=-0.151;VQSLOD=4.7971;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,112:210:99:2973,0,2436 6 31473546 31473546 A G exonic MICB nonsynonymous SNV MICB:NM_001289160:exon2:c.A127G:p.N43D,MICB:NM_001289161:exon2:c.A223G:p.N75D,MICB:NM_005931:exon2:c.A223G:p.N75D 0.85 0.85 0.86 0.91 0.77 0.88 0.8147 0.8372 0.8557 0.9145 0.6692 0.7862 0.8041 0.8927 0.81 0.85 0.78 0.84 . rs3131639 COSM5021515 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.003 0.093 B 0.000 0.005 U 1 0.090 P . . . 4.77 0.016 T 0.17 0.051 N 0.007 0.000 -0.928 0.444 T 0.001 0.003 T . . . -2.190 0.006 0.001 0.229 0.009 0.000 0.002 N c -1.820 -1.921 0.884 0.257 0.707 0.730 0 -1.82 0.074 -1.668 0.020 -0.748 0.035 0.000 0.063 0.004 0.083 6.968 0.237 MHC class I alpha chain\x2c alpha1 alpha2 domains|MHC class I-like antigen recognition-like|MHC classes I/II-like antigen recognition protein ENSG00000271581.1|ENSG00000234745.5|ENSG00000204301.5|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204463.8|ENSG00000204525.10|ENSG00000204540.6|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000204540.6|ENSG00000271581.1|ENSG00000271581.1|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000204301.5|ENSG00000206344.6|ENSG00000198563.9|ENSG00000261272.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000206344.6|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204536.9|ENSG00000204525.10|ENSG00000272221.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204540.6|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000198563.9|ENSG00000272221.1|ENSG00000271581.1|ENSG00000234745.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.8150 0.8363 0.8529 0.9460 0.9185 0.6658 0.7800 0.8237 0.8946 0.7880 0.8318 0.8385 0.9503 0.9241 0.6682 0.7704 0.7776 het 999.47 69 6 31473546 . A G 999.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.934;DP=69;Dels=0.00;FS=1.162;HRun=0;HaplotypeScore=1.9612;MQ=60.00;MQ0=0;MQRankSum=-0.383;QD=14.49;ReadPosRankSum=0.169;VQSLOD=5.7217;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,33:69:99:1029,0,918 6 31473561 31473561 A G exonic MICB nonsynonymous SNV MICB:NM_001289160:exon2:c.A142G:p.K48E,MICB:NM_001289161:exon2:c.A238G:p.K80E,MICB:NM_005931:exon2:c.A238G:p.K80E 0.28 0.38 0.19 0.27 0.26 0.24 0.3035 0.3750 0.1568 0.2764 0.2836 0.3261 0.2708 0.3035 0.32 0.36 0.31 0.32 . rs1065075 COSM3761883 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.090 B 0.004 0.133 B 0.501 0.119 N 1 0.090 P -1.155 0.009 N 5.0 0.014 T 2.23 0.004 N 0.01 0.001 -0.989 0.328 T 0.000 0.001 T . . . -2.760 0.002 0.001 0.088 0.001 0.000 0.003 N c -2.198 -2.212 0.994 0.332 0.707 0.730 0 -5.29 0.025 -1.145 0.033 -0.930 0.025 0.000 0.063 0.001 0.043 3.114 0.059 MHC class I alpha chain\x2c alpha1 alpha2 domains|MHC class I-like antigen recognition-like|MHC classes I/II-like antigen recognition protein ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.2921 0.3781 0.1563 0.3565 0.2729 0.2861 0.3183 0.2886 0.3026 0.3224 0.3724 0.1711 0.39 0.2951 0.2940 0.3103 0.3194 het 754.71 57 6 31473561 . A G 754.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.450;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=1.867;QD=13.24;ReadPosRankSum=0.585;VQSLOD=5.2121;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,26:57:99:785,0,928 6 31473957 31473957 C G exonic MICB nonsynonymous SNV MICB:NM_001289160:exon3:c.C267G:p.I89M,MICB:NM_005931:exon3:c.C363G:p.I121M 0.077 0.12 0.045 0.069 0.089 0.039 0.0926 0.1300 0.0366 0.0998 0.0742 0.1093 0.0665 0.0488 0.12 0.12 0.12 0.087 . rs3134900 COSM1286189 2(autonomic_ganglia);1(large_intestine) . . . . . . . . . . . 0.102 0.302 T 0.991 0.764 D 0.994 0.875 D 0.225 0.160 U 1 0.090 P 1.995 0.543 M 5.61 0.009 T -1.7 0.404 N 0.067 0.054 -0.899 0.481 T 0.005 0.015 T . . . 1.056 0.195 10.97 0.931 0.221 0.011 0.039 N c -0.518 -0.800 0.754 0.234 0.707 0.730 0 1.44 0.215 -0.066 0.115 0.670 0.294 0.000 0.063 0.016 0.126 3.854 0.084 MHC class I alpha chain\x2c alpha1 alpha2 domains|MHC class I-like antigen recognition-like|MHC classes I/II-like antigen recognition protein ENSG00000231852.2|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204301.5|ENSG00000204525.10|ENSG00000204536.9|ENSG00000244731.3|ENSG00000248290.1|ENSG00000250535.1|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000224389.4|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204536.9|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000204421.2|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204338.4|ENSG00000244731.3|ENSG00000256166.1|ENSG00000204525.10|ENSG00000231402.1|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000224389.4|ENSG00000204301.5|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204338.4|ENSG00000224389.4|ENSG00000244731.3|ENSG00000204338.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.0879 0.1239 0.0364 0.0583 0.0946 0.0792 0.1134 0.0822 0.0473 0.1154 0.1255 0.0526 0.0733 0.0896 0.0987 0.1212 0.1041 het 732.49 53 6 31473957 . C G 732.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.891;DP=53;Dels=0.00;FS=2.794;HRun=0;HaplotypeScore=0.0000;MQ=56.66;MQ0=0;MQRankSum=2.019;QD=13.82;ReadPosRankSum=1.112;VQSLOD=2.8900;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,27:53:99:762,0,751 6 31474000 31474000 G A exonic MICB nonsynonymous SNV MICB:NM_001289160:exon3:c.G310A:p.D104N,MICB:NM_005931:exon3:c.G406A:p.D136N 0.28 0.38 0.19 0.27 0.26 0.24 0.3027 0.3706 0.1546 0.2758 0.2831 0.3246 0.2695 0.3010 0.33 0.37 0.31 0.32 . rs1051788 COSM3761884 1(large_intestine);1(central_nervous_system) . . . . . . . . . . . 0.332 0.138 T 0.077 0.398 B 0.019 0.334 B 0.180 0.171 N 1 0.090 P 2.695 0.791 M 4.35 0.024 T -3.21 0.648 D 0.046 0.026 -0.936 0.433 T 0.003 0.011 T . . . 0.314 0.124 5.827 0.863 0.159 0.029 0.076 N c -0.965 -1.150 0.708 0.228 0.707 0.730 0 -0.599 0.110 0.615 0.238 -0.131 0.111 0.013 0.187 0.002 0.062 3.626 0.076 MHC class I alpha chain\x2c alpha1 alpha2 domains|MHC class I-like antigen recognition-like|MHC classes I/II-like antigen recognition protein ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000204516.5|ENSG00000244731.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.2930 0.3769 0.1562 0.3569 0.2732 0.2861 0.3191 0.2898 0.3022 0.3223 0.3724 0.1695 0.3874 0.2931 0.2941 0.3103 0.3197 het 1243.30 104 6 31474000 . G A 1243.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.737;DP=104;Dels=0.00;FS=0.828;HRun=1;HaplotypeScore=3.4610;MQ=58.55;MQ0=0;MQRankSum=1.264;QD=11.95;ReadPosRankSum=0.673;VQSLOD=5.2840;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,46:104:99:1273,0,1429 6 31477681 31477681 A G exonic MICB nonsynonymous SNV MICB:NM_001289160:exon6:c.A1051G:p.T351A,MICB:NM_001289161:exon6:c.A1018G:p.T340A,MICB:NM_005931:exon6:c.A1147G:p.T383A 0.8 0.82 0.82 0.88 0.73 0.78 0.7817 0.8136 0.8233 0.8877 0.6627 0.7545 0.7791 0.8371 0.78 0.83 0.75 0.81 . rs1065076 . . . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 5.65 0.008 T 0.26 0.044 N 0.009 0.001 -0.968 0.375 T 0.000 0.002 T . . . 0.959 0.186 10.42 0.680 0.083 0.000 0.003 N c -1.574 -1.635 0.205 0.182 0.707 0.730 0 -1.2 0.090 -0.827 0.045 -2.375 0.003 0.000 0.063 0.000 0.016 2.480 0.043 . ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204463.8|ENSG00000204525.10|ENSG00000271581.1|ENSG00000271581.1|ENSG00000204516.5|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000206344.6|ENSG00000261272.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204516.5|ENSG00000228789.2|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000198563.9|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272501.1|ENSG00000204516.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.7832 0.8134 0.8209 0.9005 0.8973 0.6599 0.7486 0.7951 0.8387 0.7644 0.8087 0.8133 0.8940 0.9111 0.6600 0.7431 0.7433 het 2384.18 169 6 31477681 . A G 2384.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.254;DP=169;Dels=0.00;FS=11.346;HRun=0;HaplotypeScore=3.2446;MQ=58.82;MQ0=0;MQRankSum=-0.306;QD=14.11;ReadPosRankSum=2.138;VQSLOD=3.1019;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,89:169:99:2414,0,1942 6 31496925 31496925 G A exonic MCCD1 nonsynonymous SNV MCCD1:NM_001011700:exon1:c.G134A:p.S45N 0.88 0.88 0.88 0.9 0.83 0.9 0.8562 0.8779 0.8528 0.9272 0.8288 0.8292 0.8609 0.9253 0.84 0.88 0.82 0.76 . rs3093983 COSM4160831 1(thyroid) . . . . . . . . . . . 0.141 0.255 T 0.087 0.234 B 0.029 0.203 B 0.137 0.184 N 1 0.090 P 1.78 0.463 L 1.82 0.250 T -1.97 0.456 N 0.025 0.009 -1.035 0.187 T 0.016 0.065 T . . . 1.876 0.286 15.44 0.987 0.450 0.189 0.202 N c -0.739 -0.729 1.000 0.747 0.498 0.195 0 2.98 0.334 0.434 0.211 0.040 0.155 0.009 0.180 0.415 0.257 7.299 0.254 . ENSG00000271581.1|ENSG00000234745.5|ENSG00000272221.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272221.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000206344.6|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000204540.6|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000206344.6|ENSG00000198563.9|ENSG00000261272.1|ENSG00000272221.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000272221.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204536.9|ENSG00000204525.10|ENSG00000272221.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000272221.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204536.9|ENSG00000271581.1|ENSG00000234745.5|ENSG00000198563.9|ENSG00000272221.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.8558 0.8754 0.8571 0.9436 0.9320 0.8161 0.8212 0.8616 0.9252 0.8391 0.8736 0.8445 0.9404 0.9387 0.8189 0.8094 0.8529 het 2064.28 176 6 31496925 . G A 2064.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.327;DP=176;Dels=0.00;FS=2.045;HRun=1;HaplotypeScore=7.9555;MQ=59.46;MQ0=0;MQRankSum=-1.539;QD=11.73;ReadPosRankSum=-0.178;VQSLOD=3.9456;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:91,85:176:99:2094,0,2464 6 31506624 31506624 T C exonic DDX39B synonymous SNV DDX39B:NM_004640:exon4:c.A348G:p.V116V,DDX39B:NM_080598:exon4:c.A348G:p.V116V 0.88 0.88 0.88 0.9 0.83 0.9 0.8554 0.8766 0.8524 0.9252 0.8291 0.8289 0.8590 0.9252 0.84 0.88 0.82 0.91 . rs1129640 COSM5021518;COSM1283624;COSM5021519;COSM5021517;COSM5021516 1(bone);1(autonomic_ganglia) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8557 0.8745 0.8569 0.9438 0.9311 0.8162 0.8218 0.8618 0.9252 0.8389 0.8726 0.8445 0.9404 0.9389 0.8187 0.8101 0.8503 het 1683.02 127 6 31506624 . T C 1683.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.791;DP=127;Dels=0.00;FS=4.441;HRun=0;HaplotypeScore=3.6600;MQ=59.45;MQ0=0;MQRankSum=-0.166;QD=13.25;ReadPosRankSum=-0.293;VQSLOD=5.6694;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,67:127:99:1713,0,1466 6 31525912 31525912 C T exonic NFKBIL1 nonsynonymous SNV NFKBIL1:NM_001144961:exon4:c.C625T:p.R209C,NFKBIL1:NM_001144962:exon4:c.C601T:p.R201C,NFKBIL1:NM_001144963:exon4:c.C556T:p.R186C,NFKBIL1:NM_005007:exon4:c.C670T:p.R224C 0.98 1. 0.96 1. 0.94 1. 0.9566 0.9879 0.9801 1 0.9217 0.9341 0.9687 0.9995 0.95 0.98 0.93 0.95 . rs3130062 . . . . . . . . . . . . . 0.182 0.218 T 0.0 0.026 B 0.0 0.013 B 0.076 0.023 N 1 0.090 P . . . 1.03 0.405 T -1.46 0.379 N 0.031 0.023 -1.097 0.044 T 0.033 0.141 T . . . 0.710 0.162 8.894 0.859 0.156 0.016 0.052 N c -1.557 -1.670 1.000 0.747 0.732 0.924 0 -8.89 0.007 -1.014 0.037 -0.224 0.096 0.000 0.063 0.151 0.205 16.279 0.824 . ENSG00000271581.1|ENSG00000271581.1|ENSG00000201823.1|ENSG00000271581.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000271581.1|ENSG00000201823.1|ENSG00000204525.10|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000201823.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000271581.1|ENSG00000234745.5|ENSG00000271581.1|ENSG00000201823.1|ENSG00000206344.6|ENSG00000204525.10|ENSG00000271581.1|ENSG00000234745.5|ENSG00000204525.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.9553 0.9880 0.9765 0.9925 1 0.9167 0.9290 0.9555 0.9995 0.9502 0.9835 0.9665 0.9967 1 0.9163 0.9307 0.9611 het 217.61 32 6 31525912 . C T 217.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.904;DP=32;Dels=0.00;FS=1.666;HRun=0;HaplotypeScore=3.5134;MQ=57.95;MQ0=0;MQRankSum=-0.595;QD=6.80;ReadPosRankSum=0.079;VQSLOD=3.6825;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,11:32:99:248,0,554 6 31540784 31540784 C A exonic LTA nonsynonymous SNV LTA:NM_000595:exon3:c.C179A:p.T60N,LTA:NM_001159740:exon3:c.C179A:p.T60N 0.39 0.51 0.34 0.47 0.31 0.26 0.3496 0.5039 0.3360 0.4833 0.2907 0.3345 0.3016 0.2856 0.4 0.51 0.33 0.37 . rs1041981 COSM3761887 1(large_intestine) other Myocardial_infarction RCV000015455.2 MedGen:SNOMED_CT C0027051:22298006 . . . . . . 0.392 0.107 T 0.019 0.167 B 0.022 0.184 B 0.030 0.254 N 0.864 0.283 P 2.015 0.552 M 2.42 0.154 T -0.01 0.072 N 0.104 0.109 -1.032 0.197 T 0.015 0.062 T . . . 1.527 0.246 13.46 0.951 0.255 0.415 0.264 N c -0.343 -0.260 1.000 0.747 0.581 0.326 0 3.15 0.351 0.741 0.257 0.073 0.181 0.231 0.244 0.936 0.409 5.229 0.146 . ENSG00000198502.5|ENSG00000204338.4|ENSG00000204421.2|ENSG00000228789.2 Adipose_Subcutaneous|Esophagus_Mucosa|Esophagus_Mucosa|Lung 0.3454 0.5015 0.3381 0.2406 0.4964 0.2981 0.3387 0.3332 0.2884 0.3925 0.5003 0.3225 0.2848 0.5076 0.3158 0.3457 0.3340 het 706.51 45 6 31540784 . C A 706.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.047;DP=45;Dels=0.00;FS=2.907;HRun=1;HaplotypeScore=2.5712;MQ=59.59;MQ0=0;MQRankSum=-1.120;QD=15.70;ReadPosRankSum=0.470;VQSLOD=5.6561;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,30:45:99:736,0,369 6 31594628 31594628 T A exonic PRRC2A synonymous SNV PRRC2A:NM_004638:exon10:c.T1062A:p.G354G,PRRC2A:NM_080686:exon10:c.T1062A:p.G354G 0.97 1. 0.97 0.99 0.89 0.97 0.9190 0.9781 0.9674 0.9968 0.8786 0.8811 0.9207 0.9738 0.91 0.97 0.87 0.95 . rs3130071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9155 0.9801 0.9572 0.9723 0.9970 0.8665 0.8694 0.9156 0.9735 0.9046 0.9717 0.9390 0.9669 0.9957 0.8718 0.8606 0.8965 het 241.25 21 6 31594628 . T A 241.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.794;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.776;QD=11.49;ReadPosRankSum=-0.567;VQSLOD=10.8813;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,10:21:99:271,0,236 6 31595882 31595882 C A exonic PRRC2A nonsynonymous SNV PRRC2A:NM_004638:exon12:c.C1631A:p.T544K,PRRC2A:NM_080686:exon12:c.C1631A:p.T544K 0.82 0.67 0.82 0.97 0.77 0.89 0.7879 0.6719 0.8654 0.9788 0.8088 0.7583 0.7891 0.8084 0.72 0.68 0.74 0.75 . rs1046080 . . . . . . . Blood metabolite ratios . .03 24816252 rs1046080 1E-14 0.505 0.076 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.208 P -0.895 0.014 N 3.01 0.091 T 2.34 0.003 N 0.048 0.029 -0.958 0.396 T 0.004 0.011 T . . . 1.784 0.275 14.89 0.898 0.186 0.125 0.171 N c -0.632 -0.387 1.000 0.454 0.707 0.730 0 4.62 0.568 1.784 0.381 0.236 0.261 1.000 0.715 1.000 0.888 4.941 0.132 . ENSG00000231852.2|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000213722.4|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000198502.5|ENSG00000196126.6|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000204525.10|ENSG00000196126.6|ENSG00000201823.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.7923 0.6708 0.8493 0.8907 0.9796 0.8019 0.7463 0.7832 0.8096 0.7442 0.6621 0.8098 0.8742 0.9764 0.8034 0.7433 0.7953 het 2146.54 207 6 31595882 . C A 2146.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.862;DP=207;Dels=0.00;FS=5.028;HRun=1;HaplotypeScore=9.4208;MQ=59.39;MQ0=0;MQRankSum=1.564;QD=10.37;ReadPosRankSum=0.847;VQSLOD=3.6603;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,80:207:99:2177,0,3402 6 31598489 31598489 A G exonic PRRC2A synonymous SNV PRRC2A:NM_004638:exon15:c.A2376G:p.V792V,PRRC2A:NM_080686:exon15:c.A2376G:p.V792V 0.13 0.21 0.079 0.07 0.15 0.12 0.1503 0.2037 0.0751 0.0973 0.1554 0.1716 0.1139 0.1118 . . . 0.18 . rs3130626 COSM4594556 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1452 0.1987 0.0763 0.1130 0.0964 0.1567 0.1769 0.1420 0.1086 0.1798 0.1929 0.0909 0.1325 0.0907 0.1759 0.1893 0.1694 het 1804.68 129 6 31598489 . A G 1804.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.861;DP=129;Dels=0.00;FS=1.478;HRun=2;HaplotypeScore=4.1083;MQ=59.57;MQ0=0;MQRankSum=-0.243;QD=13.99;ReadPosRankSum=0.043;VQSLOD=6.0540;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,62:129:99:1835,0,1746 6 31601344 31601344 T C exonic PRRC2A nonsynonymous SNV PRRC2A:NM_004638:exon17:c.T4508C:p.L1503P,PRRC2A:NM_080686:exon17:c.T4508C:p.L1503P 0.82 0.68 0.83 0.97 0.77 0.87 0.7893 0.6761 0.8666 0.9790 0.8106 0.7589 0.7878 0.8085 0.72 0.69 0.74 0.75 . rs2272593 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.027 0.259 N 0.760 0.295 P -0.805 0.016 N 4.73 0.017 T 3.04 0.001 N 0.063 0.048 -0.883 0.496 T 0.001 0.005 T . . . 2.220 0.328 17.64 0.971 0.319 0.071 0.130 N c -0.625 -0.426 1.000 0.747 0.672 0.522 0 5.41 0.782 1.683 0.370 0.063 0.168 0.664 0.281 0.990 0.544 11.690 0.506 . ENSG00000231852.2|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000213722.4|ENSG00000196735.7|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000198502.5|ENSG00000196126.6|ENSG00000196126.6|ENSG00000196735.7|ENSG00000198502.5|ENSG00000196126.6|ENSG00000204525.10|ENSG00000196126.6|ENSG00000201823.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.7934 0.6752 0.8510 0.8908 0.9797 0.8029 0.7467 0.7851 0.8098 0.7460 0.6680 0.8122 0.8742 0.9759 0.8062 0.7429 0.7971 het 617.87 64 6 31601344 . T C 617.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.262;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8273;MQ=59.28;MQ0=0;MQRankSum=1.224;QD=9.65;ReadPosRankSum=-1.295;VQSLOD=6.2587;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,24:64:99:648,0,1108 6 31602967 31602967 G A exonic PRRC2A nonsynonymous SNV PRRC2A:NM_004638:exon22:c.G5219A:p.R1740H,PRRC2A:NM_080686:exon22:c.G5219A:p.R1740H 0.39 0.54 0.36 0.35 0.34 0.29 0.3573 0.5128 0.3809 0.3925 0.4800 0.3348 0.3106 0.2688 0.4 0.51 0.35 0.37 . rs1046089 COSM3761888 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . Menopause (age at onset) . .21 22267201 rs1046089 2E-16 0.053 0.388 T 0.957 0.528 D 0.513 0.462 P 0.005 0.329 N 0.042 0.380 P 0.895 0.225 L 4.66 0.018 T -2.18 0.491 N 0.176 0.214 -0.732 0.589 T 0.005 0.017 T . . . 4.702 0.630 24.6 0.992 0.538 0.920 0.544 D c 0.461 0.528 1.000 0.747 0.672 0.522 0 5.51 0.817 3.406 0.521 1.038 0.658 0.999 0.424 1.000 0.888 16.451 0.838 . ENSG00000204428.8|ENSG00000231852.2|ENSG00000198502.5|ENSG00000204428.8|ENSG00000204428.8|ENSG00000204463.8|ENSG00000204463.8|ENSG00000204428.8|ENSG00000204428.8|ENSG00000204428.8|ENSG00000244731.3|ENSG00000213722.4|ENSG00000204428.8|ENSG00000198502.5|ENSG00000204421.2|ENSG00000204428.8|ENSG00000204428.8|ENSG00000204428.8|ENSG00000198502.5|ENSG00000244731.3|ENSG00000204428.8|ENSG00000204428.8|ENSG00000224389.4|ENSG00000204428.8|ENSG00000204428.8|ENSG00000204428.8|ENSG00000198502.5|ENSG00000244731.3|ENSG00000204428.8|ENSG00000204469.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3571 0.5163 0.3835 0.1916 0.3872 0.4741 0.3401 0.3353 0.2658 0.4108 0.4941 0.3565 0.2133 0.3745 0.4871 0.3548 0.4185 het 1470.64 91 6 31602967 . G A 1470.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.696;DP=91;Dels=0.00;FS=4.130;HRun=0;HaplotypeScore=2.4532;MQ=59.75;MQ0=0;MQRankSum=1.227;QD=16.16;ReadPosRankSum=-1.622;VQSLOD=5.3654;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,53:91:99:1501,0,975 6 31603770 31603770 A G exonic PRRC2A synonymous SNV PRRC2A:NM_004638:exon25:c.A5568G:p.Q1856Q,PRRC2A:NM_080686:exon25:c.A5568G:p.Q1856Q 0.13 0.21 0.079 0.071 0.15 0.12 0.1508 0.2000 0.0751 0.0973 0.1563 0.1725 0.1158 0.1129 0.19 0.2 0.18 0.18 . rs11229 COSM3761889 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1450 0.1987 0.0762 0.1129 0.0964 0.1569 0.1766 0.1418 0.1084 0.1798 0.1933 0.0907 0.1325 0.0910 0.1759 0.1890 0.1694 het 1117.79 79 6 31603770 . A G 1117.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.648;DP=79;Dels=0.00;FS=4.754;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=-0.476;QD=14.15;ReadPosRankSum=-1.017;VQSLOD=5.7456;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,42:79:99:1148,0,953 6 31604044 31604044 T G exonic PRRC2A nonsynonymous SNV PRRC2A:NM_004638:exon26:c.T5683G:p.L1895V,PRRC2A:NM_080686:exon26:c.T5683G:p.L1895V 0.99 1. 0.97 1. 0.95 1. 0.9586 0.9886 0.9840 1 0.9244 0.9372 0.9691 0.9995 0.95 0.98 0.93 0.97 . rs3132453 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.466 N 1.000 0.090 P -1.1 0.010 N 4.9 0.015 T 1.21 0.011 N 0.045 0.025 -0.876 0.501 T 0.001 0.003 T . . . 1.054 0.195 10.96 0.939 0.233 0.142 0.181 N c -0.548 -0.286 1.000 0.473 0.672 0.522 0 5.25 0.731 1.628 0.364 0.131 0.216 1.000 0.715 0.998 0.697 12.767 0.566 . ENSG00000271581.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000201823.1|ENSG00000196126.6|ENSG00000196126.6|ENSG00000201823.1|ENSG00000201823.1|ENSG00000271581.1|ENSG00000201823.1|ENSG00000271581.1|ENSG00000201823.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000271581.1|ENSG00000196126.6|ENSG00000201823.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000201823.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000229391.3|ENSG00000196126.6|ENSG00000196126.6|ENSG00000201823.1|ENSG00000271581.1|ENSG00000201823.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000201823.1|ENSG00000198502.5|ENSG00000196126.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.9577 0.9887 0.9810 0.9921 1 0.9194 0.9325 0.9598 0.9995 0.9521 0.9830 0.9726 0.9967 1 0.9204 0.9336 0.9641 het 2380.51 214 6 31604044 . T G 2380.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.752;DP=214;Dels=0.00;FS=4.091;HRun=3;HaplotypeScore=0.9979;MQ=59.48;MQ0=0;MQRankSum=0.023;QD=11.12;ReadPosRankSum=-1.956;VQSLOD=5.8123;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:114,100:214:99:2410,0,3040 6 31627523 31627523 C T exonic C6orf47 nonsynonymous SNV C6orf47:NM_021184:exon1:c.G202A:p.G68R 0.82 0.68 0.83 0.97 0.77 0.87 0.7904 0.6762 0.8677 0.9790 0.8078 0.7609 0.7901 0.8090 0.72 0.69 0.74 0.77 . rs3130617 . . . . . . . . . . . . . 0.867 0.026 T 0.0 0.026 B 0.006 0.112 B 0.838 0.091 N 1 0.090 P 0.255 0.098 N 1.45 0.325 T -0.8 0.221 N 0.02 0.004 -0.967 0.378 T 0.021 0.091 T . . . -1.473 0.017 0.003 0.534 0.048 0.019 0.058 N c -1.366 -1.408 1.000 0.747 0.628 0.401 0 -0.639 0.109 -0.360 0.076 -0.318 0.077 0.000 0.063 0.008 0.104 6.210 0.197 . ENSG00000231852.2|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000213722.4|ENSG00000196735.7|ENSG00000198502.5|ENSG00000196126.6|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000198502.5|ENSG00000196126.6|ENSG00000196126.6|ENSG00000196735.7|ENSG00000198502.5|ENSG00000196126.6|ENSG00000204525.10|ENSG00000201823.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.7943 0.6756 0.8520 0.8923 0.9797 0.8010 0.7484 0.7875 0.8101 0.7465 0.6683 0.8138 0.8742 0.9759 0.8041 0.7442 0.7936 het 936.28 67 6 31627523 . C T 936.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.593;DP=67;Dels=0.00;FS=8.886;HRun=0;HaplotypeScore=3.8514;MQ=58.53;MQ0=0;MQRankSum=-0.321;QD=13.97;ReadPosRankSum=0.296;VQSLOD=4.6817;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:966,0,805 6 31632134 31632134 C A exonic GPANK1 nonsynonymous SNV GPANK1:NM_033177:exon2:c.G122T:p.R41L,GPANK1:NM_001199237:exon3:c.G122T:p.R41L,GPANK1:NM_001199238:exon3:c.G122T:p.R41L,GPANK1:NM_001199239:exon3:c.G122T:p.R41L,GPANK1:NM_001199240:exon3:c.G122T:p.R41L 0.13 0.21 0.079 0.071 0.15 0.12 0.1501 0.1999 0.0746 0.0968 0.1558 0.1719 0.1145 0.1116 0.19 0.2 0.18 0.14 . rs3130618 COSM1443317 1(large_intestine) . . . . . . . . . . . 0.057 0.379 T 1.0 0.899 D 0.997 0.850 D 0.000 0.843 D 0.000 0.588 P 1.87 0.498 L 2.66 0.612 T -4.26 0.861 D 0.31 0.551 -0.668 0.619 T 0.221 0.584 T . . . 7.366 0.950 34 0.996 0.748 0.919 0.542 D c 0.537 0.549 1.000 0.747 0.733 0.969 0 5.18 0.710 3.472 0.526 0.852 0.362 0.992 0.373 0.981 0.494 16.189 0.817 . ENSG00000204301.5|ENSG00000231852.2|ENSG00000244731.3|ENSG00000244731.3|ENSG00000250535.1|ENSG00000231852.2|ENSG00000244731.3|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204463.8|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000224389.4|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204516.5|ENSG00000244731.3|ENSG00000204536.9|ENSG00000244731.3|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204301.5|ENSG00000204338.4|ENSG00000244731.3|ENSG00000198502.5|ENSG00000244731.3|ENSG00000204444.6|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000224389.4|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204444.6|ENSG00000198502.5|ENSG00000244731.3|ENSG00000204338.4|ENSG00000224389.4|ENSG00000231852.2|ENSG00000244731.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1453 0.1987 0.0762 0.1129 0.0963 0.1573 0.1770 0.1421 0.1086 0.1797 0.1930 0.0907 0.13 0.0909 0.1761 0.1892 0.1677 het 853.06 62 6 31632134 . C A 853.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.171;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=0.347;QD=13.76;ReadPosRankSum=-2.468;VQSLOD=5.4918;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,34:62:99:883,0,688 6 31657413 31657413 T C exonic ABHD16A synonymous SNV ABHD16A:NM_001177515:exon10:c.A927G:p.L309L,ABHD16A:NM_021160:exon12:c.A1026G:p.L342L 0.82 0.68 0.83 0.97 0.77 0.87 0.7967 0.6915 0.8717 0.9791 0.8150 0.7665 0.7965 0.8145 0.72 0.69 0.74 0.77 . rs1475865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7951 0.6779 0.8525 0.8933 0.9798 0.8012 0.7486 0.7880 0.8112 0.7471 0.6694 0.8141 0.88 0.9760 0.8029 0.7448 0.7971 het 1030.08 61 6 31657413 . T C 1030.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.007;DP=61;Dels=0.00;FS=1.196;HRun=2;HaplotypeScore=0.8321;MQ=59.24;MQ0=0;MQRankSum=-1.378;QD=16.89;ReadPosRankSum=0.168;VQSLOD=5.7751;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,35:61:99:1060,0,704 6 31727897 31727897 C T exonic MSH5 synonymous SNV MSH5:NM_002441:exon19:c.C1716T:p.T572T,MSH5:NM_025259:exon19:c.C1767T:p.T589T,MSH5:NM_172165:exon19:c.C1716T:p.T572T,MSH5:NM_172166:exon19:c.C1716T:p.T572T 0.034 0.057 0.027 . 0.075 . 0.0675 0.0613 0.0237 0.0001 0.0718 0.0981 0.0467 0.0022 0.095 0.068 0.11 0.033 . rs3115672 COSM3761891;COSM3761892 1(large_intestine) Benign not_specified RCV000454707.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0643 0.0612 0.0236 0.0376 5.819e-05 0.0781 0.1035 0.0637 0.0020 0.0864 0.0631 0.0310 0.0497 0 0.0954 0.1112 0.0847 het 4052.59 247 6 31727897 . C T 4052.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.047;DP=247;DS;Dels=0.00;FS=0.986;HRun=3;HaplotypeScore=8.8121;MQ=58.03;MQ0=0;MQRankSum=0.402;QD=16.41;ReadPosRankSum=0.277;VQSLOD=3.9465;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,127:247:99:3435,0,3244 6 31729359 31729359 A G exonic MSH5 synonymous SNV MSH5:NM_002441:exon22:c.A2148G:p.Q716Q,MSH5:NM_025259:exon22:c.A2202G:p.Q734Q,MSH5:NM_172165:exon22:c.A2151G:p.Q717Q,MSH5:NM_172166:exon22:c.A2148G:p.Q716Q 0.47 0.69 0.42 0.35 0.32 0.47 0.3854 0.6518 0.4232 0.3461 0.4257 0.3170 0.3597 0.4749 0.43 0.65 0.32 0.47 . rs707938 COSM3774232;COSM3774234;COSM3774233 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(thyroid) Benign not_specified RCV000454754.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3824 0.6534 0.4210 0.3031 0.3375 0.4250 0.3140 0.3709 0.4762 0.4219 0.6417 0.3866 0.3113 0.3181 0.4344 0.3079 0.3996 het 1771.92 149 6 31729359 . A G 1771.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.882;DP=149;Dels=0.00;FS=3.191;HRun=0;HaplotypeScore=6.2881;MQ=59.25;MQ0=0;MQRankSum=-0.578;QD=11.89;ReadPosRankSum=0.058;VQSLOD=4.8577;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,68:149:99:1802,0,2092 6 31733466 31733466 T C exonic VWA7 nonsynonymous SNV VWA7:NM_025258:exon17:c.A2581G:p.T861A 0.034 0.057 0.027 . 0.075 . 0.0763 0.0738 0.0308 0.0002 0.0937 0.1151 0.0505 0.0023 0.087 0.065 0.099 0.033 . rs3101017 COSM3761893 1(large_intestine) . . . . . . . . . . . 0.522 0.072 T 0.004 0.112 B 0.006 0.112 B 0.858 0.089 U 1 0.207 N 1.645 0.421 L 2.69 0.123 T -1.07 0.279 N 0.048 0.030 -0.920 0.456 T 0.006 0.021 T . . . -0.559 0.052 0.157 0.757 0.108 0.193 0.204 N c -0.905 -0.857 1.000 0.747 0.658 0.486 0 -0.686 0.107 0.081 0.146 1.058 0.762 0.866 0.305 0.571 0.283 4.318 0.104 . ENSG00000204301.5|ENSG00000231852.2|ENSG00000232629.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204301.5|ENSG00000204525.10|ENSG00000232629.4|ENSG00000204338.4|ENSG00000244731.3|ENSG00000248290.1|ENSG00000250535.1|ENSG00000204344.10|ENSG00000204338.4|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000224389.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000204421.2|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000232629.4|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000232629.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000229391.3|ENSG00000204308.6|ENSG00000204338.4|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000256166.1|ENSG00000204308.6|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000224389.4|ENSG00000231852.2|ENSG00000204338.4|ENSG00000224389.4|ENSG00000204301.5|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204338.4|ENSG00000204444.6|ENSG00000204538.3|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204338.4|ENSG00000224389.4|ENSG00000231852.2|ENSG00000214894.2|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.0629 0.0613 0.0236 0.0365 6.282e-05 0.0784 0.1045 0.0621 0.0020 0.0868 0.0639 0.0311 0.0467 0 0.0960 0.1116 0.0856 het 280.80 17 6 31733466 . T C 280.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.558;DP=17;Dels=0.00;FS=1.913;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.156;QD=16.52;ReadPosRankSum=0.854;VQSLOD=5.6902;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,11:17:99:311,0,162 6 31734345 31734345 G T exonic VWA7 synonymous SNV VWA7:NM_025258:exon14:c.C2079A:p.S693S 0.034 0.058 0.027 . 0.075 . 0.0648 0.0621 0.0236 0.0001 0.0757 0.0970 0.0431 0.0019 0.09 0.067 0.1 0.033 . rs3115671 COSM3761894 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0633 0.0616 0.0233 0.0365 5.855e-05 0.0777 0.1029 0.0629 0.0020 0.0865 0.0634 0.0310 0.0497 0 0.0949 0.1115 0.0837 het 717.60 44 6 31734345 . G T 717.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.778;DP=44;Dels=0.00;FS=2.836;HRun=1;HaplotypeScore=0.8941;MQ=58.62;MQ0=0;MQRankSum=0.895;QD=16.31;ReadPosRankSum=0.561;VQSLOD=4.9833;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,26:44:99:748,0,519 6 31749884 31749884 G A exonic VARS nonsynonymous SNV VARS:NM_006295:exon18:c.C2221T:p.P741S . . . . . . 8.315e-06 0 0 0 0 1.516e-05 0 0 . . . . . rs750791937 . . . . . . . . . . . . . 0.285 0.152 T 0.001 0.067 B 0.005 0.104 B 0.000 0.441 N 0.998 0.810 D 1.365 0.343 L 1.39 0.338 T -3.67 0.701 D 0.164 0.198 -1.092 0.052 T 0.032 0.135 T 0.010 0.265 T 1.349 0.226 12.52 0.838 0.144 0.960 0.668 D c -0.182 -0.012 1.000 0.480 0.707 0.730 0 4.37 0.517 4.194 0.579 1.048 0.713 1.000 0.715 0.579 0.285 11.410 0.490 Aminoacyl-tRNA synthetase\x2c class Ia|Rossmann-like alpha/beta/alpha sandwich fold . . 4.075e-06 0 0 0 0 0 9.009e-06 0 0 . . . . . . . . het 946.81 70 6 31749884 . G A 946.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.259;DP=70;Dels=0.00;FS=0.918;HRun=0;HaplotypeScore=2.6202;MQ=58.94;MQ0=0;MQRankSum=0.435;QD=13.53;ReadPosRankSum=0.565;VQSLOD=4.8954;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:977,0,917 6 31778272 31778272 G A exonic HSPA1L nonsynonymous SNV HSPA1L:NM_005527:exon2:c.C1478T:p.T493M 0.88 0.99 0.92 0.77 0.84 0.84 0.8652 0.9670 0.9493 0.8250 0.8426 0.8364 0.8844 0.8876 0.87 0.96 0.82 0.86 . rs2227956 . . . . . . . . . . . . . 0.097 0.309 T 0.132 0.256 B 0.052 0.241 B 0.001 0.419 N 1.000 0.090 P 0.93 0.236 L 5.45 0.010 T 0.22 0.047 N 0.038 0.056 -0.962 0.389 T 0.001 0.004 T . . . 1.056 0.195 10.97 0.925 0.213 0.251 0.224 N c -0.913 -0.898 0.998 0.368 0.615 0.372 0 -4.17 0.036 0.346 0.196 0.202 0.252 0.560 0.272 0.979 0.486 14.407 0.665 Heat shock protein 70kD\x2c peptide-binding domain ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000241287.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000204525.10|ENSG00000198502.5|ENSG00000273333.1|ENSG00000196126.6|ENSG00000204525.10|ENSG00000198502.5|ENSG00000196126.6|ENSG00000241287.1|ENSG00000204516.5|ENSG00000213722.4|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000261272.1|ENSG00000204314.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000204525.10|ENSG00000198502.5|ENSG00000271581.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000204516.5|ENSG00000204525.10|ENSG00000198502.5|ENSG00000232629.4|ENSG00000196126.6|ENSG00000204525.10|ENSG00000231852.2|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000244731.3|ENSG00000198502.5|ENSG00000234745.5|ENSG00000272501.1|ENSG00000198502.5|ENSG00000273333.1|ENSG00000196126.6|ENSG00000204525.10|ENSG00000204314.6|ENSG00000241287.1|ENSG00000204525.10|ENSG00000231852.2|ENSG00000198502.5|ENSG00000196126.6|ENSG00000204314.6|ENSG00000272501.1|ENSG00000198502.5|ENSG00000232629.4|ENSG00000196126.6|ENSG00000204516.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.8659 0.9707 0.9399 0.9369 0.8156 0.8368 0.8293 0.8756 0.8911 0.8667 0.9639 0.9153 0.9238 0.7960 0.8404 0.8210 0.8525 het 3224.03 223 6 31778272 . G A 3224.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.148;DP=223;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.69;MQ0=0;MQRankSum=1.648;QD=14.46;ReadPosRankSum=0.489;VQSLOD=6.6598;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,115:223:99:3254,0,2991 6 31914935 31914935 A G exonic CFB synonymous SNV CFB:NM_001710:exon3:c.A450G:p.R150R 0.86 0.99 0.78 0.7 0.85 0.9 0.8305 0.9619 0.7648 0.6966 0.8085 0.8244 0.8555 0.9045 0.86 0.96 0.81 0.88 . rs1048709 COSM4160865 1(thyroid) Benign|Benign|Benign Atypical_hemolytic_uremic_syndrome|Complement_component_2_deficiency|Macular_degeneration RCV000298932.1|RCV000302130.1|RCV000393257.1 MedGen:Orphanet|MedGen:OMIM|Human_Phenotype_Ontology:MedGen C2931788:ORPHA2134|C3150275:217000|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8243 0.9640 0.7556 0.9467 0.6994 0.8042 0.8163 0.8344 0.9069 0.8431 0.9528 0.7818 0.9371 0.6875 0.8088 0.8066 0.8268 het 1515.90 137 6 31914935 . A G 1515.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.413;DP=137;Dels=0.00;FS=0.678;HRun=1;HaplotypeScore=4.4899;MQ=59.53;MQ0=0;MQRankSum=-0.316;QD=11.06;ReadPosRankSum=-1.874;VQSLOD=5.1776;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,56:137:99:1546,0,2097 6 32025863 32025863 C T exonic TNXB synonymous SNV TNXB:NM_019105:exon22:c.G7797A:p.L2599L 0.05 0.047 0.043 0.017 0.11 0.028 0.0939 0.0570 0.0411 0.0138 0.1048 0.1350 0.0719 0.0289 0.11 0.05 0.14 0.065 . rs369637 COSM3761902;COSM3761903 1(large_intestine) Benign not_specified RCV000250306.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0911 0.0545 0.0413 0.0528 0.0144 0.1107 0.1406 0.0875 0.0292 0.1099 0.0566 0.0489 0.0762 0.0136 0.1234 0.1510 0.1299 het 448.19 63 6 32025863 . C T 448.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.666;DP=63;Dels=0.00;FS=2.520;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=-0.681;QD=7.11;ReadPosRankSum=3.167;VQSLOD=2.9455;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,19:63:99:478,0,1232 6 32026107 32026107 C T exonic TNXB nonsynonymous SNV TNXB:NM_019105:exon22:c.G7553A:p.G2518E 0.7 0.62 0.76 0.66 0.72 0.76 0.7192 0.6523 0.7774 0.6293 0.6515 0.7188 0.7101 0.7881 0.69 0.65 0.7 0.65 . rs1009382 COSM4160919;COSM4160918 1(thyroid) Benign not_specified RCV000249012.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.110 0.195 N 1 0.090 P -1.79 0.003 N 3.59 0.046 T 2.31 0.003 N 0.021 0.040 -0.948 0.413 T 0.001 0.004 T . . . -0.763 0.042 0.052 0.158 0.004 0.001 0.006 N c -1.447 -1.351 0.015 0.127 0.516 0.203 0 3.3 0.368 -0.350 0.077 0.090 0.195 0.000 0.063 0.015 0.124 1.605 0.025 Fibronectin type III ENSG00000196735.7|ENSG00000271581.1|ENSG00000204301.5|ENSG00000198502.5|ENSG00000232629.4|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000196126.6|ENSG00000196126.6|ENSG00000241287.1|ENSG00000271581.1|ENSG00000213676.6|ENSG00000196735.7|ENSG00000179344.12|ENSG00000196126.6|ENSG00000196735.7|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000271581.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000196126.6|ENSG00000196126.6|ENSG00000196735.7|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000196126.6|ENSG00000229391.3|ENSG00000196735.7|ENSG00000272501.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000179344.12|ENSG00000196735.7|ENSG00000231852.2|ENSG00000179344.12|ENSG00000196126.6|ENSG00000271581.1|ENSG00000232629.4|ENSG00000179344.12|ENSG00000196126.6|ENSG00000237541.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.7198 0.6385 0.7834 0.8474 0.6196 0.6498 0.7115 0.7214 0.7827 0.6835 0.6379 0.7512 0.87 0.6143 0.6490 0.7155 0.7163 het 371.77 31 6 32026107 . C T 371.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.747;DP=31;Dels=0.00;FS=1.992;HRun=0;HaplotypeScore=0.0000;MQ=59.91;MQ0=0;MQRankSum=-0.020;QD=11.99;ReadPosRankSum=-0.376;VQSLOD=5.9095;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:402,0,492 6 32064726 32064726 T C exonic TNXB nonsynonymous SNV TNXB:NM_019105:exon3:c.A904G:p.T302A 0.019 0.0023 0.022 . 0.075 . 0.0650 0.0154 0.0241 0.0001 0.0858 0.1008 0.0508 6.841e-05 0.077 0.022 0.11 0.033 . rs1150752 . . Benign not_specified RCV000252628.1 MedGen CN169374 . . . . . . 0.067 0.359 T 0.018 0.165 B 0.016 0.166 B 0.720 0.099 N 1.000 0.223 N . . . 0.0 0.626 T -1.64 0.577 N 0.044 0.024 -1.038 0.180 T 0.064 0.264 T . . . -1.427 0.019 0.003 0.614 0.065 0.223 0.215 N c -1.149 -1.208 1.000 0.747 0.583 0.331 0 -2.19 0.066 -0.174 0.097 -0.360 0.068 0.000 0.063 0.984 0.507 3.083 0.058 EGF-like domain|EGF-like\x2c conserved site ENSG00000224389.4|ENSG00000204301.5|ENSG00000231852.2|ENSG00000198502.5|ENSG00000232629.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204301.5|ENSG00000204525.10|ENSG00000232629.4|ENSG00000204338.4|ENSG00000244731.3|ENSG00000248290.1|ENSG00000168477.13|ENSG00000250535.1|ENSG00000204344.10|ENSG00000204338.4|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000204257.10|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204257.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000224389.4|ENSG00000204257.10|ENSG00000244731.3|ENSG00000242574.4|ENSG00000204525.10|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000204421.2|ENSG00000232629.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000232629.4|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204301.5|ENSG00000232629.4|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204257.10|ENSG00000250535.1|ENSG00000232629.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000196735.7|ENSG00000198502.5|ENSG00000244731.3|ENSG00000204525.10|ENSG00000229391.3|ENSG00000204308.6|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000256166.1|ENSG00000204257.10|ENSG00000204308.6|ENSG00000231402.1|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000224389.4|ENSG00000231852.2|ENSG00000204338.4|ENSG00000224389.4|ENSG00000204257.10|ENSG00000204301.5|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204525.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204338.4|ENSG00000204257.10|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204540.6|ENSG00000204338.4|ENSG00000224389.4|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204525.10|ENSG00000204338.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.0590 0.0139 0.0213 0.0361 5.825e-05 0.0777 0.1002 0.0588 3.278e-05 0.0720 0.0155 0.0288 0.0530 0 0.0942 0.1097 0.0837 het 473.42 36 6 32064726 . T C 473.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.349;DP=36;Dels=0.00;FS=1.330;HRun=0;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;MQRankSum=-1.172;QD=13.15;ReadPosRankSum=0.475;VQSLOD=5.9873;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,19:36:99:503,0,472 6 32122386 32122386 C G exonic PPT2 nonsynonymous SNV PPT2:NM_001204103:exon2:c.C15G:p.C5W,PPT2:NM_005155:exon2:c.C15G:p.C5W,PPT2:NM_138717:exon2:c.C33G:p.C11W 0.93 0.97 0.95 0.92 0.9 0.91 0.9036 0.9636 0.9522 0.9382 0.8980 0.8767 0.8922 0.9259 0.9 0.96 0.86 0.8 . rs3134604 . . . . . . . . . . . . . 1.0 0.021 T 0.0 0.026 B 0.0 0.013 B 0.916 0.085 N 0.712 0.588 P -0.345 0.033 N 1.57 0.914 T 0.37 0.043 N 0.038 0.425 -0.962 0.388 T 0.306 0.677 T . . . 1.997 0.301 16.19 0.902 0.189 0.001 0.007 N c -0.989 -0.896 1.0 0.983 0.442 0.072 0 2.91 0.328 1.223 0.319 0.039 0.154 0.971 0.341 0.163 0.208 8.249 0.307 . ENSG00000196735.7|ENSG00000204301.5|ENSG00000198502.5|ENSG00000232629.4|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000244731.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000198502.5|ENSG00000271581.1|ENSG00000198502.5|ENSG00000273333.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000204525.10|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000273333.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000237541.3|ENSG00000204525.10|ENSG00000229391.3|ENSG00000198502.5|ENSG00000196126.6|ENSG00000196126.6|ENSG00000198502.5|ENSG00000229391.3|ENSG00000179344.12|ENSG00000196126.6|ENSG00000241287.1|ENSG00000223534.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000271581.1|ENSG00000201823.1|ENSG00000273333.1|ENSG00000196126.6|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000273333.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000204314.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000271581.1|ENSG00000198502.5|ENSG00000229391.3|ENSG00000179344.12|ENSG00000196126.6|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000271581.1|ENSG00000198502.5|ENSG00000273333.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000204301.5|ENSG00000231852.2|ENSG00000198502.5|ENSG00000273333.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000198502.5|ENSG00000271581.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000196126.6|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000204314.6|ENSG00000241287.1|ENSG00000223534.1|ENSG00000198502.5|ENSG00000273333.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000244731.3|ENSG00000229391.3|ENSG00000204314.6|ENSG00000241287.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000231852.2|ENSG00000201823.1|ENSG00000198502.5|ENSG00000273333.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000229391.3|ENSG00000241287.1|ENSG00000196735.7|ENSG00000271581.1|ENSG00000198502.5|ENSG00000273333.1|ENSG00000179344.12|ENSG00000240065.3|ENSG00000196126.6|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.9034 0.9637 0.9424 0.9174 0.9468 0.8906 0.8719 0.8943 0.9256 0.9027 0.9548 0.9189 0.9371 0.9430 0.8952 0.8677 0.9090 hom 6851.91 209 6 32122386 . C G 6851.91 Mask AC=2;AF=1.00;AN=2;DP=209;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.6333;MQ=59.30;MQ0=0;QD=32.78;VQSLOD=7.4421;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,209:209:99:6851,542,0 6 32122472 32122472 C A exonic PPT2 nonsynonymous SNV PPT2:NM_001204103:exon2:c.C101A:p.A34E,PPT2:NM_005155:exon2:c.C101A:p.A34E,PPT2:NM_138717:exon2:c.C119A:p.A40E 0.16 0.21 0.1 0.038 0.2 0.2 0.1588 0.1980 0.0879 0.0416 0.1341 0.1893 0.1276 0.1417 0.2 0.19 0.21 0.15 . rs3096696 . . . . . . . . . . . . . 1.0 0.210 T 0.491 0.351 P 0.133 0.315 B 0.929 0.075 N 1 0.248 P 1.1 0.281 L -3.35 0.940 D -0.13 0.148 N 0.051 0.281 -0.728 0.591 T 0.303 0.674 T . . . 1.377 0.229 12.67 0.887 0.176 0.065 0.124 N c -0.845 -0.800 1.0 0.983 0.468 0.091 2 2.61 0.301 0.210 0.171 -0.065 0.121 0.038 0.207 0.852 0.355 6.931 0.235 Alpha/Beta hydrolase fold ENSG00000204301.5|ENSG00000232629.4|ENSG00000204536.9|ENSG00000204301.5|ENSG00000232629.4|ENSG00000204308.6|ENSG00000204257.10|ENSG00000224389.4|ENSG00000204314.6|ENSG00000204308.6|ENSG00000204536.9|ENSG00000179344.12|ENSG00000244731.3|ENSG00000204301.5|ENSG00000232629.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000198502.5|ENSG00000232629.4|ENSG00000204308.6|ENSG00000204301.5|ENSG00000244731.3|ENSG00000196735.7|ENSG00000198502.5|ENSG00000196126.6|ENSG00000223534.1|ENSG00000244731.3|ENSG00000204308.6|ENSG00000204536.9|ENSG00000244731.3|ENSG00000204308.6|ENSG00000244731.3|ENSG00000204301.5|ENSG00000224389.4|ENSG00000204257.10|ENSG00000204301.5|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204308.6|ENSG00000196735.7|ENSG00000204257.10|ENSG00000244731.3|ENSG00000224389.4|ENSG00000272501.1|ENSG00000244731.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1554 0.1982 0.0883 0.1455 0.0379 0.1357 0.1987 0.1686 0.1369 0.1853 0.1884 0.1122 0.1656 0.0407 0.1574 0.2099 0.1908 het 1807.15 115 6 32122472 . C A 1807.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.133;DP=115;Dels=0.00;FS=3.163;HRun=0;HaplotypeScore=9.6766;MQ=58.99;MQ0=0;MQRankSum=-2.140;QD=15.71;ReadPosRankSum=-1.308;VQSLOD=2.3089;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,67:115:99:1837,0,1036 6 32134510 32134510 G A exonic EGFL8 nonsynonymous SNV EGFL8:NM_030652:exon4:c.G257A:p.R86K 0.16 0.21 0.1 0.037 0.2 0.19 0.1641 0.1977 0.0887 0.0399 0.1357 0.1921 0.1401 0.1631 0.21 0.19 0.22 0.14 . rs3096697 . . . . . . . . . . . . . 0.754 0.035 T 0.002 0.090 B 0.003 0.080 B . . . 0.996 0.232 P 0.57 0.153 N 1.04 0.402 T -0.17 0.098 N 0.059 0.256 -1.009 0.271 T 0.021 0.087 T . . . 1.059 0.196 10.99 0.912 0.199 0.336 0.247 N c -0.780 -0.606 1.000 0.747 0.742 0.980 0 3.38 0.376 1.557 0.357 -0.232 0.094 0.177 0.238 0.994 0.587 8.432 0.317 EMI domain ENSG00000204301.5|ENSG00000232629.4|ENSG00000204301.5|ENSG00000232629.4|ENSG00000204308.6|ENSG00000204257.10|ENSG00000244731.3|ENSG00000224389.4|ENSG00000204314.6|ENSG00000244731.3|ENSG00000204308.6|ENSG00000179344.12|ENSG00000244731.3|ENSG00000204301.5|ENSG00000232629.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000198502.5|ENSG00000232629.4|ENSG00000204308.6|ENSG00000204301.5|ENSG00000244731.3|ENSG00000196735.7|ENSG00000198502.5|ENSG00000196126.6|ENSG00000223534.1|ENSG00000244731.3|ENSG00000204308.6|ENSG00000244731.3|ENSG00000204308.6|ENSG00000244731.3|ENSG00000204301.5|ENSG00000224389.4|ENSG00000204257.10|ENSG00000204301.5|ENSG00000231852.2|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204308.6|ENSG00000196735.7|ENSG00000204257.10|ENSG00000244731.3|ENSG00000204314.6|ENSG00000224389.4|ENSG00000272501.1|ENSG00000244731.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1560 0.1977 0.0882 0.1477 0.0362 0.1376 0.1986 0.1710 0.1393 0.1851 0.1893 0.1122 0.1656 0.0351 0.1573 0.2096 0.1903 het 938.81 60 6 32134510 . G A 938.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2555;MQ=59.62;MQ0=0;MQRankSum=-0.911;QD=15.65;ReadPosRankSum=1.593;VQSLOD=5.0863;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,32:60:99:969,0,685 6 32147696 32147696 G A exonic RNF5 synonymous SNV RNF5:NM_006913:exon4:c.G315A:p.P105P 0.13 0.12 0.086 0.093 0.16 0.19 0.1386 0.1188 0.0728 0.0985 0.1303 0.1602 0.1134 0.1359 0.16 0.11 0.18 0.14 . rs3130349 COSM3761922;COSM3761921 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1355 0.1184 0.0728 0.0895 0.0925 0.1331 0.1698 0.1309 0.1305 0.1515 0.1121 0.0811 0.1159 0.0939 0.1537 0.1838 0.1673 het 901.46 93 6 32147696 . G A 901.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.816;DP=93;Dels=0.00;FS=2.976;HRun=0;HaplotypeScore=3.6376;MQ=58.47;MQ0=0;MQRankSum=-0.067;QD=9.69;ReadPosRankSum=1.276;VQSLOD=5.2724;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,37:93:99:931,0,1452 6 32151994 32151994 A T exonic AGER synonymous SNV AGER:NM_001136:exon1:c.T6A:p.A2A,AGER:NM_001206929:exon1:c.T6A:p.A2A,AGER:NM_001206932:exon1:c.T6A:p.A2A,AGER:NM_001206934:exon1:c.T6A:p.A2A,AGER:NM_001206936:exon1:c.T6A:p.A2A,AGER:NM_001206940:exon1:c.T6A:p.A2A,AGER:NM_001206954:exon1:c.T6A:p.A2A,AGER:NM_001206966:exon1:c.T6A:p.A2A,AGER:NM_172197:exon1:c.T6A:p.A2A 0.96 0.99 0.96 0.99 0.89 0.97 0.9181 0.9757 0.9638 0.9975 0.8844 0.8788 0.9255 0.9770 0.9 0.97 0.87 0.94 . rs1800684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9161 0.9775 0.9542 0.9746 0.9980 0.8727 0.8702 0.9124 0.9757 0.9058 0.9694 0.9415 0.9636 0.9957 0.8751 0.8633 0.8998 hom 772.87 24 6 32151994 . A T 772.87 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=32.20;VQSLOD=9.4536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:63.19:806,63,0 6 32168771 32168771 G T exonic NOTCH4 synonymous SNV NOTCH4:NM_004557:exon23:c.C4152A:p.V1384V 0.078 0.099 0.048 0.028 0.1 0.095 0.1007 0.0949 0.0419 0.0344 0.1118 0.1229 0.0729 0.0874 0.12 0.091 0.13 0.11 . rs3134942 COSM1443593 1(haematopoietic_and_lymphoid_tissue);3(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0969 0.0953 0.0413 0.0859 0.0327 0.1150 0.1277 0.0973 0.0775 0.1143 0.0882 0.0477 0.1033 0.0253 0.1294 0.1390 0.1237 het 802.99 61 6 32168771 . G T 802.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.141;DP=61;Dels=0.00;FS=3.460;HRun=1;HaplotypeScore=1.9644;MQ=58.77;MQ0=0;MQRankSum=0.289;QD=13.16;ReadPosRankSum=-0.822;VQSLOD=6.1546;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,32:61:99:833,0,808 6 32172065 32172065 T G exonic NOTCH4 synonymous SNV NOTCH4:NM_004557:exon19:c.A2967C:p.G989G 0.96 0.99 0.96 0.99 0.89 0.97 0.9165 0.9773 0.9631 0.9975 0.8784 0.8767 0.9197 0.9773 0.9 0.97 0.87 0.95 . rs1044506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9156 0.9790 0.9546 0.9740 0.9980 0.8701 0.8695 0.9070 0.9765 0.9054 0.9704 0.9427 0.9603 0.9957 0.8716 0.8629 0.8988 hom 2508.22 77 6 32172065 . T G 2508.22 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=32.57;VQSLOD=9.5988;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2541,196,0 6 32188297 32188297 G C exonic NOTCH4 synonymous SNV NOTCH4:NM_004557:exon6:c.C1044G:p.G348G 0.32 0.24 0.34 0.3 0.4 0.36 0.3189 0.2274 0.2474 0.2017 0.3472 0.3523 0.3747 0.3379 . . . 0.3 . rs423023 COSM3830202 1(breast);1(haematopoietic_and_lymphoid_tissue);14(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3138 0.2148 0.2629 0.5122 0.1928 0.3251 0.3327 0.3530 0.3383 0.2878 0.2118 0.2697 0.47 0.1875 0.3153 0.3310 0.3289 het 2292.33 191 6 32188297 . G C 2292.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.266;DP=191;Dels=0.00;FS=5.651;HRun=4;HaplotypeScore=5.4061;MQ=59.05;MQ0=0;MQRankSum=0.042;QD=12.00;ReadPosRankSum=2.165;VQSLOD=4.0704;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,94:191:99:2322,0,2032 6 32188383 32188383 T C exonic NOTCH4 nonsynonymous SNV NOTCH4:NM_004557:exon6:c.A958G:p.T320A 0.34 0.3 0.31 0.22 0.46 0.44 0.4035 0.3079 0.2877 0.1732 0.4269 0.4651 0.4244 0.4081 0.4 0.31 0.45 0.39 . rs422951 COSM451253 16(soft_tissue) . . . . . . . . . . . 0.546 0.067 T 0.0 0.026 B 0.009 0.133 B 0.721 0.063 N 1.000 0.090 P 0.57 0.153 N -2.98 0.921 D 0.42 0.034 N 0.015 0.002 -0.758 0.575 T 0.351 0.715 T . . . -2.277 0.005 0.001 0.301 0.016 0.006 0.027 N c -1.472 -1.537 0.623 0.219 0.563 0.310 0 -4.96 0.028 -0.154 0.100 -1.066 0.020 0.000 0.063 0.273 0.232 7.561 0.269 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain ENSG00000204301.5|ENSG00000198502.5|ENSG00000223534.1|ENSG00000204301.5|ENSG00000204301.5|ENSG00000204301.5|ENSG00000179344.12|ENSG00000241287.1|ENSG00000204301.5|ENSG00000204308.6|ENSG00000204301.5|ENSG00000196735.7|ENSG00000204301.5|ENSG00000179344.12|ENSG00000223534.1|ENSG00000244731.3|ENSG00000204301.5|ENSG00000204301.5|ENSG00000198502.5|ENSG00000204308.6|ENSG00000204301.5|ENSG00000204301.5|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000204301.5|ENSG00000244731.3|ENSG00000204301.5|ENSG00000196735.7|ENSG00000204301.5|ENSG00000198502.5|ENSG00000179344.12|ENSG00000223534.1|ENSG00000244731.3|ENSG00000204301.5|ENSG00000244731.3|ENSG00000196735.7|ENSG00000179344.12|ENSG00000244731.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4014 0.3007 0.3052 0.5884 0.1676 0.4269 0.4561 0.4397 0.4058 0.4018 0.3017 0.3174 0.5767 0.1597 0.4453 0.4739 0.4549 hom 2742.05 78 6 32188383 . T C 2742.05 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8857;MQ=59.38;MQ0=0;QD=35.15;VQSLOD=9.6450;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,77:78:99:2775,220,0 6 32188603 32188603 C T exonic NOTCH4 synonymous SNV NOTCH4:NM_004557:exon5:c.G852A:p.Q284Q 0.27 0.21 0.26 0.19 0.35 0.34 0.3060 0.2146 0.2455 0.1404 0.3160 0.3440 0.3491 0.3330 0.28 0.21 0.32 0.29 . rs520803 COSM4003968 1(haematopoietic_and_lymphoid_tissue);13(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3065 0.2092 0.2634 0.5103 0.1362 0.3139 0.3304 0.3438 0.3334 0.2860 0.2127 0.2715 0.4765 0.1332 0.3149 0.3328 0.3265 het 2946.52 250 6 32188603 . C T 2946.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.639;DP=250;DS;Dels=0.00;FS=0.470;HRun=1;HaplotypeScore=4.1914;MQ=58.70;MQ0=0;MQRankSum=0.377;QD=11.79;ReadPosRankSum=0.812;VQSLOD=5.9961;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:2977,0,3707 6 32188640 32188640 T C exonic NOTCH4 nonsynonymous SNV NOTCH4:NM_004557:exon5:c.A815G:p.D272G 0.27 0.21 0.26 0.19 0.35 0.34 0.3058 0.2146 0.2451 0.1401 0.3154 0.3434 0.3477 0.3350 0.28 0.21 0.32 . . rs520692 COSM4003969 1(haematopoietic_and_lymphoid_tissue);13(soft_tissue) . . . . . . . . . . . 0.339 0.127 T 0.001 0.067 B 0.02 0.179 B 0.594 0.056 N 0.145 0.353 P 1.925 0.515 L -2.85 0.914 D -1.83 0.429 N 0.021 0.005 -0.793 0.556 T 0.356 0.719 T . . . 0.672 0.158 8.640 0.745 0.104 0.874 0.467 D c -0.501 -0.397 0.990 0.321 0.563 0.310 0 3.6 0.402 1.637 0.365 0.107 0.202 0.954 0.330 0.577 0.284 6.691 0.222 EGF-like domain|EGF-like\x2c conserved site ENSG00000204301.5|ENSG00000204301.5|ENSG00000271581.1|ENSG00000273333.1|ENSG00000204301.5|ENSG00000204338.4|ENSG00000204301.5 Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.3058 0.2091 0.2628 0.5093 0.1361 0.3131 0.3297 0.3434 0.3328 0.2844 0.2120 0.2715 0.4702 0.1298 0.3154 0.3304 0.3244 het 2765.28 227 6 32188640 . T C 2765.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.713;DP=227;DS;Dels=0.00;FS=0.497;HRun=1;HaplotypeScore=10.7418;MQ=58.56;MQ0=0;MQRankSum=0.124;QD=12.18;ReadPosRankSum=-0.412;VQSLOD=4.1335;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,108:227:99:2795,0,2939 6 32188642 32188642 T C exonic NOTCH4 synonymous SNV NOTCH4:NM_004557:exon5:c.A813G:p.P271P 0.28 0.21 0.26 0.24 0.35 0.36 0.3109 0.2146 0.2451 0.2002 0.3156 0.3436 0.3488 0.3401 0.28 0.21 0.32 0.011 . rs520688 COSM3722800 1(haematopoietic_and_lymphoid_tissue);1(kidney);13(soft_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3103 0.2089 0.2628 0.5093 0.1928 0.3129 0.3296 0.3441 0.3376 0.2872 0.2122 0.2715 0.4702 0.1829 0.3158 0.3302 0.3247 het 2548.71 226 6 32188642 . T C 2548.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.630;DP=226;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.9917;MQ=58.56;MQ0=0;MQRankSum=-1.337;QD=11.28;ReadPosRankSum=-0.763;VQSLOD=3.7282;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,109:226:99:2579,0,2930 6 32189032 32189032 T C exonic NOTCH4 synonymous SNV NOTCH4:NM_004557:exon4:c.A522G:p.T174T 0.28 0.21 0.26 0.24 0.35 0.36 0.3113 0.2157 0.2458 0.1991 0.3170 0.3441 0.3524 0.3375 0.28 0.22 0.32 0.3 . rs415929 COSM5019317 13(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3110 0.2097 0.2636 0.5098 0.1923 0.3140 0.3302 0.3461 0.3382 0.2897 0.2141 0.2709 0.4702 0.1877 0.3154 0.3335 0.3306 het 1178.22 98 6 32189032 . T C 1178.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.898;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4585;MQ=59.19;MQ0=0;MQRankSum=1.073;QD=12.02;ReadPosRankSum=0.245;VQSLOD=5.5002;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,49:98:99:1208,0,1232 6 32190390 32190390 T G exonic NOTCH4 nonsynonymous SNV NOTCH4:NM_004557:exon3:c.A349C:p.K117Q 0.4 0.37 0.33 0.51 0.35 0.42 0.3584 0.3827 0.2824 0.4623 0.3088 0.3536 0.3344 0.3834 0.37 0.38 0.37 0.42 . rs915894 COSM4417696 1(breast);1(haematopoietic_and_lymphoid_tissue);17(soft_tissue) . . . . . . . . . . . 0.399 0.105 T 0.0 0.026 B 0.001 0.040 B 0.038 0.018 N 1 0.090 P 0.04 0.081 N -2.92 0.918 D 0.33 0.039 N 0.008 0.000 -0.758 0.575 T 0.370 0.729 T . . . -0.306 0.068 0.643 0.487 0.040 0.002 0.010 N c -1.115 -1.120 1.000 0.500 0.609 0.349 0 2.36 0.281 1.026 0.295 -0.320 0.077 0.005 0.169 0.002 0.062 9.661 0.389 . ENSG00000204301.5|ENSG00000198502.5|ENSG00000204308.6|ENSG00000196126.6|ENSG00000204308.6|ENSG00000198502.5|ENSG00000204308.6|ENSG00000196126.6|ENSG00000232629.4|ENSG00000196126.6|ENSG00000204308.6|ENSG00000204305.9|ENSG00000204301.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.3515 0.3831 0.2686 0.3705 0.4623 0.3070 0.3563 0.3373 0.3696 0.3603 0.3721 0.2542 0.3609 0.4819 0.3210 0.3558 0.3545 het 1516.13 109 6 32190390 . T G 1516.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.461;DP=109;Dels=0.00;FS=8.061;HRun=2;HaplotypeScore=8.1230;MQ=59.79;MQ0=0;MQRankSum=-0.780;QD=13.91;ReadPosRankSum=2.120;VQSLOD=3.4443;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,57:109:99:1546,0,1419 6 32190406 32190406 A G exonic NOTCH4 synonymous SNV NOTCH4:NM_004557:exon3:c.T333C:p.G111G 0.46 0.47 0.38 0.56 0.36 0.5 0.3804 0.4683 0.3455 0.4988 0.2366 0.3489 0.3692 0.4732 0.4 0.46 0.38 0.47 . rs443198 COSM4417276 1(haematopoietic_and_lymphoid_tissue);16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3749 0.4685 0.3322 0.4404 0.4983 0.2346 0.3541 0.3796 0.4625 0.3795 0.4611 0.3225 0.4338 0.5261 0.2446 0.3512 0.3560 het 1415.36 116 6 32190406 . A G 1415.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.132;DP=116;Dels=0.00;FS=0.703;HRun=0;HaplotypeScore=1.5983;MQ=59.80;MQ0=0;MQRankSum=-0.994;QD=12.20;ReadPosRankSum=2.319;VQSLOD=5.5485;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,59:116:99:1445,0,1530 6 32191658 32191658 - AGCAGC exonic NOTCH4 nonframeshift insertion NOTCH4:NM_004557:exon1:c.47_48insGCTGCT:p.L16delinsLLL 0.067 0.083 0.085 0.014 0.074 0.082 0.0703 0.0630 0.0363 0.0126 0.0570 0.0895 0.0455 0.0610 . . . . . rs9281675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0909 0.0695 0.0362 0.0507 0.0053 0.0969 0.1142 0.1002 het 1837.53 118 6 32191658 . T TAGCAGC 1837.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.835;DP=118;DS;FS=0.000;HRun=0;HaplotypeScore=1086.4057;MQ=49.00;MQ0=0;MQRankSum=0.354;QD=15.57;ReadPosRankSum=-1.630;set=variant2 GT:AD:DP:GQ:PL 0/1:83,18:118:99:1877,0,469 6 32261507 32261507 T C exonic C6orf10 nonsynonymous SNV C6orf10:NM_006781:exon23:c.A943G:p.I315V,C6orf10:NM_001286475:exon24:c.A895G:p.I299V,C6orf10:NM_001286474:exon26:c.A937G:p.I313V 0.26 0.35 0.14 0.24 0.24 0.26 0.2199 0.3399 0.1277 0.2058 0.2846 0.2195 0.1831 0.2011 0.26 0.33 0.22 0.2 . rs3749966 COSM4003970 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.587 0.059 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P -0.495 0.026 N 3.76 0.039 T 0.1 0.084 N 0.015 0.437 -0.992 0.321 T 0.012 0.046 T . . . -2.473 0.003 0.001 0.228 0.009 0.003 0.014 N c -1.486 -1.636 0.000 0.046 0.487 0.133 0 -3.56 0.043 -0.734 0.050 -1.982 0.005 0.000 0.063 0.000 0.016 5.692 0.170 . ENSG00000204301.5|ENSG00000198502.5|ENSG00000196126.6|ENSG00000204308.6|ENSG00000244731.3|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000244731.3|ENSG00000204308.6|ENSG00000244731.3|ENSG00000224389.4|ENSG00000231852.2|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Cerebellum|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2151 0.3464 0.1289 0.1138 0.2108 0.2929 0.2230 0.2021 0.2007 0.2653 0.3328 0.1516 0.1291 0.2057 0.2951 0.2364 0.2383 het 4203.45 242 6 32261507 . T C 4203.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.601;DP=242;Dels=0.00;FS=4.552;HRun=0;HaplotypeScore=4.5892;MQ=58.93;MQ0=0;MQRankSum=1.091;QD=17.37;ReadPosRankSum=0.393;VQSLOD=4.6763;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,131:242:99:3586,0,2910 6 32299822 32299822 G A exonic C6orf10 nonsynonymous SNV C6orf10:NM_001286475:exon15:c.C413T:p.P138L,C6orf10:NM_006781:exon15:c.C482T:p.P161L,C6orf10:NM_001286474:exon16:c.C434T:p.P145L 0.23 0.31 0.15 0.13 0.21 0.29 0.2027 0.2940 0.1118 0.1171 0.1673 0.2124 0.2043 0.2364 0.25 0.29 0.22 0.26 . rs1003878 . . . . . . . . . . . . . 1.0 0.035 T . . . . . . . . . 0.195 0.346 P 1.7 0.440 L 3.65 0.043 T -3.98 0.737 D 0.198 0.535 -0.876 0.501 T 0.004 0.014 T . . . 1.719 0.268 14.52 0.307 0.017 0.851 0.439 D c -0.161 -0.132 0.119 0.168 0.487 0.133 0 3.1 0.346 3.467 0.526 1.048 0.713 1.000 0.715 0.981 0.494 9.153 0.359 . ENSG00000204301.5|ENSG00000204301.5|ENSG00000198502.5|ENSG00000204257.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204301.5|ENSG00000198502.5|ENSG00000196126.6|ENSG00000244731.3|ENSG00000204338.4|ENSG00000204301.5|ENSG00000244731.3|ENSG00000204308.6|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204301.5|ENSG00000204338.4|ENSG00000204257.10|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000224389.4|ENSG00000244731.3|ENSG00000204338.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1936 0.2962 0.1130 0.1299 0.1055 0.1736 0.2179 0.1982 0.2340 0.2256 0.2966 0.1301 0.1325 0.0990 0.1832 0.2164 0.2067 het 1162.56 98 6 32299822 . G A 1162.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.834;DP=98;Dels=0.00;FS=2.603;HRun=0;HaplotypeScore=1.7791;MQ=59.00;MQ0=0;MQRankSum=0.537;QD=11.86;ReadPosRankSum=-2.661;VQSLOD=5.4371;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,48:98:99:1193,0,1263 6 32303692 32303692 T A exonic C6orf10 nonsynonymous SNV C6orf10:NM_001286475:exon13:c.A379T:p.I127F,C6orf10:NM_006781:exon13:c.A448T:p.I150F,C6orf10:NM_001286474:exon14:c.A400T:p.I134F 0.019 0.0038 0.019 . 0.079 . 0.0603 0.0154 0.0221 0 0.0771 0.0958 0.0425 6.19e-05 0.074 0.022 0.1 0.022 . rs1265754 . . . . . . . . . . . . . 0.071 0.353 T . . . . . . . . . 0.973 0.267 N 1.445 0.365 L 3.46 0.053 T -1.69 0.402 N 0.377 0.537 -0.946 0.418 T 0.009 0.033 T . . . 3.206 0.445 22.7 0.952 0.257 0.638 0.320 D c -0.048 -0.067 0.000 0.060 0.487 0.133 0 2.96 0.332 0.961 0.287 1.058 0.762 1.000 0.715 1.000 0.888 7.748 0.279 . ENSG00000224389.4|ENSG00000204301.5|ENSG00000231852.2|ENSG00000198502.5|ENSG00000232629.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204301.5|ENSG00000232629.4|ENSG00000204338.4|ENSG00000244731.3|ENSG00000248290.1|ENSG00000168477.13|ENSG00000250535.1|ENSG00000204344.10|ENSG00000204338.4|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204338.4|ENSG00000204257.10|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204257.10|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000224389.4|ENSG00000204257.10|ENSG00000244731.3|ENSG00000242574.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204338.4|ENSG00000204421.2|ENSG00000232629.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000232629.4|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204301.5|ENSG00000232629.4|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204257.10|ENSG00000250535.1|ENSG00000232629.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000196735.7|ENSG00000198502.5|ENSG00000244731.3|ENSG00000229391.3|ENSG00000204308.6|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204257.10|ENSG00000204308.6|ENSG00000204338.4|ENSG00000244731.3|ENSG00000204516.5|ENSG00000231852.2|ENSG00000204338.4|ENSG00000224389.4|ENSG00000204257.10|ENSG00000204301.5|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204516.5|ENSG00000204338.4|ENSG00000244731.3|ENSG00000244731.3|ENSG00000244731.3|ENSG00000204338.4|ENSG00000204257.10|ENSG00000244731.3|ENSG00000204338.4|ENSG00000224389.4|ENSG00000231852.2|ENSG00000244731.3|ENSG00000204338.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.0589 0.0157 0.0212 0.0357 0 0.0821 0.1005 0.0611 3.278e-05 0.0732 0.0164 0.0264 0.0596 0 0.0974 0.1107 0.0827 het 1222.35 112 6 32303692 . T A 1222.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.824;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=58.10;MQ0=0;MQRankSum=-0.120;QD=10.91;ReadPosRankSum=-0.085;VQSLOD=5.8976;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,50:112:99:1252,0,1555 6 32337686 32337686 A G exonic C6orf10 nonsynonymous SNV C6orf10:NM_001286474:exon2:c.T88C:p.C30R,C6orf10:NM_001286475:exon2:c.T88C:p.C30R,C6orf10:NM_006781:exon2:c.T88C:p.C30R 0.8 0.7 0.8 0.87 0.78 0.9 0.8125 0.7183 0.8465 0.8603 0.8613 0.7888 0.8131 0.8893 0.75 0.72 0.76 0.78 . rs3129941 COSM5002972 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.55 0.024 N 3.66 0.043 T 1.96 0.009 N 0.084 0.555 -0.953 0.404 T 0.001 0.003 T . . . -1.467 0.018 0.003 0.575 0.057 0.001 0.008 N c -1.519 -1.418 1.000 0.747 0.500 0.196 0 1.78 0.238 0.112 0.152 0.066 0.173 0.001 0.137 0.065 0.173 3.478 0.071 . ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000229391.3|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000198502.5|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000204314.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000229391.3|ENSG00000179344.12|ENSG00000196126.6|ENSG00000196126.6|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000241287.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000198502.5|ENSG00000196126.6|ENSG00000198502.5|ENSG00000241287.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000204314.6|ENSG00000241287.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000204267.9|ENSG00000225914.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000241106.2|ENSG00000198502.5|ENSG00000273333.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000237541.3|ENSG00000241287.1|ENSG00000198502.5|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000237541.3|ENSG00000241287.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.8113 0.7190 0.8348 0.8047 0.8515 0.8533 0.7809 0.7782 0.8912 0.7728 0.7111 0.8258 0.7947 0.8191 0.8493 0.7809 0.7961 hom 7715.24 247 6 32337686 . A G 7715.24 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6936;MQ=59.50;MQ0=0;QD=31.24;VQSLOD=8.6327;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:247:99:7684,638,0 6 32362639 32362639 G A exonic BTNL2 synonymous SNV BTNL2:NM_001304561:exon6:c.C1242T:p.H414H 0.16 0.14 0.16 0.16 0.16 0.2 0.1550 0.1317 0.1587 0.1416 0.2692 0.1448 0.1751 0.1688 0.14 0.13 0.14 0.16 . rs41535850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1559 0.1308 0.1488 0.0808 0.1293 0.2663 0.1456 0.1588 0.1721 0.1593 0.1397 0.1778 0.0629 0.1059 0.2589 0.1524 0.1867 het 2972.96 232 6 32362639 . G A 2972.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.323;DP=232;DS;Dels=0.00;FS=1.645;HRun=0;HaplotypeScore=4.2493;MQ=57.90;MQ0=0;MQRankSum=-0.714;QD=12.81;ReadPosRankSum=1.022;VQSLOD=4.4449;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:119,113:232:99:3003,0,3141 6 32362741 32362741 C T exonic BTNL2 nonsynonymous SNV BTNL2:NM_001304561:exon6:c.G1140A:p.M380I 0.16 0.14 0.16 0.16 0.16 0.2 0.1555 0.1320 0.1579 0.1411 0.2684 0.1449 0.1759 0.1731 0.14 0.13 0.14 0.17 . rs28362677 . . . . . . . . . . . . . 0.223 0.203 T 0.002 0.090 B 0.003 0.112 B 0.958 0.077 N 1.000 0.588 P 1.03 0.257 L -0.91 0.750 T 0.14 0.156 N 0.047 0.028 -1.057 0.124 T 0.105 0.386 T . . . 0.655 0.156 8.529 0.647 0.074 0.047 0.103 N c -0.950 -0.883 0.999 0.398 0.428 0.059 0 3.3 0.368 0.005 0.129 -1.110 0.018 0.027 0.200 0.001 0.043 6.971 0.237 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000196735.7|ENSG00000229391.3|ENSG00000196735.7|ENSG00000228962.1|ENSG00000196735.7|ENSG00000228962.1|ENSG00000196735.7|ENSG00000228962.1|ENSG00000196735.7|ENSG00000228962.1|ENSG00000228962.1|ENSG00000196735.7|ENSG00000228962.1|ENSG00000229391.3|ENSG00000196735.7|ENSG00000228962.1|ENSG00000204290.6|ENSG00000228962.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Frontal_Cortex_BA9|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Prostate|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid 0.1541 0.1295 0.1464 0.0785 0.1275 0.2649 0.1441 0.1570 0.1692 0.1583 0.1386 0.1770 0.0629 0.1068 0.2580 0.1511 0.1857 het 2572.72 235 6 32362741 . C T 2572.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.942;DP=235;DS;Dels=0.00;FS=0.520;HRun=0;HaplotypeScore=4.0539;MQ=56.06;MQ0=0;MQRankSum=-1.434;QD=10.95;ReadPosRankSum=-0.581;VQSLOD=2.2847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:133,102:235:99:2603,0,3682 6 32363816 32363816 T C exonic BTNL2 nonsynonymous SNV BTNL2:NM_001304561:exon5:c.A1078G:p.S360G 0.39 0.33 0.48 0.29 0.45 0.43 0.4260 0.3385 0.5071 0.3312 0.4797 0.4311 0.4206 0.4259 0.4 0.32 0.44 0.35 . rs2076530 COSM5617856;COSM5617857;COSM5617855 1(breast) other Sarcoidosis_2 RCV000004912.2 MedGen:OMIM C2676468:612387 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.064 0.220 N 0.993 0.588 P -1.875 0.003 N 3.92 0.035 T 0.83 0.018 N 0.032 0.039 -0.975 0.361 T 0.001 0.003 T . . . -0.300 0.068 0.664 0.598 0.061 0.005 0.022 N c -1.008 -0.737 0.003 0.097 0.487 0.094 0 3.36 0.374 1.721 0.374 0.032 0.150 1.000 0.715 0.972 0.466 7.002 0.238 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like fold ENSG00000273333.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000204287.9|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4239 0.3293 0.4976 0.4074 0.3215 0.4617 0.4300 0.4303 0.3996 0.3920 0.3324 0.5323 0.3767 0.2779 0.4573 0.4142 0.4223 het 1082.95 74 6 32363816 . T C 1082.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.974;DP=74;Dels=0.00;FS=1.184;HRun=1;HaplotypeScore=1.8924;MQ=59.18;MQ0=0;MQRankSum=0.336;QD=14.63;ReadPosRankSum=1.884;VQSLOD=5.8778;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,39:74:99:1113,0,974 6 32363955 32363955 T C exonic BTNL2 synonymous SNV BTNL2:NM_001304561:exon5:c.A939G:p.V313V 0.38 0.33 0.48 0.27 0.44 0.42 0.4126 0.3353 0.5025 0.3175 0.4789 0.4206 0.4039 0.3852 0.39 0.32 0.43 0.38 . rs2076529 COSM3761934;COSM3761933;COSM5830410 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4158 0.3285 0.4924 0.3784 0.3097 0.4611 0.4227 0.4187 0.3862 0.3875 0.3307 0.5264 0.3510 0.2740 0.4567 0.4076 0.4158 het 1377.82 99 6 32363955 . T C 1377.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.634;DP=99;Dels=0.00;FS=2.672;HRun=0;HaplotypeScore=6.3385;MQ=59.77;MQ0=0;MQRankSum=0.373;QD=13.92;ReadPosRankSum=0.558;VQSLOD=4.8139;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,48:99:99:1408,0,1286 6 32410987 32410987 A G exonic HLA-DRA synonymous SNV HLA-DRA:NM_019111:exon3:c.A354G:p.T118T 0.95 0.96 0.95 0.99 0.88 0.98 0.9133 0.9461 0.9604 0.9977 0.8730 0.8748 0.9094 0.9836 0.89 0.94 0.86 0.91 . rs3135391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9121 0.9492 0.9512 0.9788 0.9981 0.8632 0.8662 0.9052 0.9826 0.8953 0.9451 0.9391 0.9570 0.9963 0.8628 0.8597 0.8900 hom 3393.84 115 6 32410987 . A G 3393.84 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4469;MQ=59.19;MQ0=0;QD=29.51;VQSLOD=8.8858;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3393,286,0 6 32411035 32411035 A C exonic HLA-DRA synonymous SNV HLA-DRA:NM_019111:exon3:c.A402C:p.I134I 0.63 0.6 0.67 0.68 0.59 0.63 0.6096 0.5921 0.6043 0.7136 0.5298 0.5794 0.6264 0.7182 0.57 0.57 0.57 0.64 . rs8084 COSM1443621 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . -1.469 0.018 0.003 0.447 0.034 0.007 0.029 N c -1.517 -1.741 1.000 0.747 0.628 0.401 0 -9.66 0.004 -3.391 0.005 -2.250 0.004 0.000 0.063 0.379 0.251 6.774 0.227 . ENSG00000179344.12|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000229391.3|ENSG00000241287.1|ENSG00000229391.3|ENSG00000241287.1|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000229391.3|ENSG00000241287.1|ENSG00000179344.12|ENSG00000237541.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000229391.3|ENSG00000241287.1|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000196301.3|ENSG00000179344.12|ENSG00000229391.3|ENSG00000241287.1|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000229391.3|ENSG00000241287.1|ENSG00000179344.12|ENSG00000196126.6|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.6111 0.5933 0.6141 0.7246 0.7202 0.5129 0.5751 0.6159 0.7172 0.5728 0.5816 0.6136 0.7318 0.7457 0.5161 0.5564 0.5799 het 2173.62 136 6 32411035 . A C 2173.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.724;DP=136;Dels=0.00;FS=4.312;HRun=0;HaplotypeScore=3.6661;MQ=59.18;MQ0=0;MQRankSum=2.016;QD=15.98;ReadPosRankSum=0.873;VQSLOD=4.9024;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,79:136:99:2204,0,1492 6 32411646 32411646 T G exonic HLA-DRA nonsynonymous SNV HLA-DRA:NM_019111:exon4:c.T724G:p.L242V 0.66 0.6 0.69 0.69 0.63 0.72 0.6372 0.5983 0.6115 0.7181 0.5419 0.6114 0.6540 0.7749 0.6 0.58 0.61 0.66 . rs7192 COSM1443623 7(prostate) . . . . . Non-obstructive azoospermia 0.78 . 22541561 rs7192 3E-6 0.279 0.161 T 0.0 0.026 B 0.0 0.013 B 0.331 0.041 N 1 0.090 P . . . 4.64 0.018 T -0.71 0.202 N 0.012 0.001 -0.923 0.452 T 0.001 0.004 T . . . -1.578 0.015 0.002 0.542 0.050 0.011 0.040 N c -1.565 -1.682 1.000 0.747 0.628 0.401 0 -7.3 0.013 -0.013 0.125 -1.445 0.011 0.005 0.169 0.001 0.043 4.021 0.091 Immunoglobulin C1-set\x2c C-terminal extension ENSG00000179344.12|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000204314.6|ENSG00000241287.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000229391.3|ENSG00000179344.12|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000229391.3|ENSG00000229391.3|ENSG00000237541.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000241287.1|ENSG00000229391.3|ENSG00000273333.1|ENSG00000196126.6|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000196126.6|ENSG00000229391.3|ENSG00000179344.12|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000196126.6|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000179344.12|ENSG00000237541.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000241287.1|ENSG00000196301.3|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000229391.3|ENSG00000241287.1|ENSG00000229391.3|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000237541.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1|ENSG00000229391.3|ENSG00000229391.3|ENSG00000179344.12|ENSG00000196126.6|ENSG00000223534.1|ENSG00000237541.3|ENSG00000229391.3|ENSG00000241287.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.6373 0.5986 0.6233 0.7383 0.7239 0.5245 0.6099 0.6389 0.7699 0.5948 0.5882 0.6241 0.7467 0.7515 0.5304 0.5915 0.6061 het 1703.22 129 6 32411646 . T G 1703.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.693;DP=129;Dels=0.00;FS=3.572;HRun=0;HaplotypeScore=2.9738;MQ=59.35;MQ0=0;MQRankSum=0.912;QD=13.20;ReadPosRankSum=1.440;VQSLOD=5.9688;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,62:129:99:1733,0,1877 6 32629847 32629847 A G exonic HLA-DQB1 synonymous SNV HLA-DQB1:NM_001243961:exon3:c.T558C:p.T186T,HLA-DQB1:NM_002123:exon3:c.T558C:p.T186T 0.83 0.74 0.87 0.91 0.79 0.89 0.7985 0.7276 0.9067 0.9027 0.7509 0.7600 0.7982 0.8858 0.74 0.71 0.75 0.35 0.21 rs1049133 COSM4161010 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8064 0.7255 0.8981 0.8555 0.9150 0.7433 0.7605 0.8007 0.8862 0.7564 0.7151 0.8684 0.8490 0.9154 0.7533 0.7548 0.7731 hom 5064.27 170 6 32629847 . A G 5064.27 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=53.04;MQ0=2;QD=29.79;VQSLOD=5.6142;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,169:170:99:5063,403,0 6 32713030 32713030 T C exonic HLA-DQA2 synonymous SNV HLA-DQA2:NM_020056:exon2:c.T177C:p.Y59Y 0.68 0.64 0.71 0.8 0.61 0.67 0.6210 0.6378 0.7453 0.8209 0.5822 0.5646 0.6403 0.6598 0.59 0.63 0.57 0.66 . rs3208181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6247 0.6401 0.7252 0.6381 0.8269 0.5737 0.5599 0.6289 0.6605 0.5769 0.6166 0.6284 0.6074 0.7561 0.5362 0.5412 0.5841 het 2402.55 200 6 32713030 . T C 2402.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.335;DP=200;DS;Dels=0.00;FS=1.186;HRun=0;HaplotypeScore=2.3046;MQ=58.82;MQ0=0;MQRankSum=0.050;QD=12.01;ReadPosRankSum=0.480;VQSLOD=5.8322;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:100,100:200:99:2433,0,2933 6 32783086 32783086 A G exonic HLA-DOB synonymous SNV HLA-DOB:NM_002120:exon2:c.T96C:p.D32D 0.13 0.18 0.13 0.031 0.18 0.12 0.1776 0.1761 0.1186 0.0505 0.1636 0.2110 0.1700 0.1571 0.2 0.18 0.21 0.16 . rs7383287 COSM3761958 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1761 0.1757 0.1203 0.2240 0.0453 0.1706 0.2139 0.1765 0.1627 0.1872 0.1737 0.1241 0.2152 0.0407 0.1881 0.2143 0.1759 hom 3512.42 107 6 32783086 . A G 3512.42 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9340;MQ=59.78;MQ0=0;QD=32.83;VQSLOD=9.2068;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3512,274,0 6 32800224 32800224 C A exonic TAP2 synonymous SNV TAP2:NM_001290043:exon7:c.G1158T:p.G386G,TAP2:NM_018833:exon7:c.G1158T:p.G386G 0.24 0.2 0.31 0.25 0.22 0.28 0.2546 0.2369 0.3776 0.2463 0.1873 0.2383 0.2647 0.2739 0.24 0.23 0.25 0.25 . rs2228397 COSM5428148;COSM5428147;COSM5428146 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2572 0.2279 0.3700 0.2927 0.2382 0.1890 0.2360 0.2554 0.2719 0.2333 0.2274 0.3525 0.2781 0.2388 0.1833 0.2399 0.2388 het 285.04 28 6 32800224 . C A 285.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.488;DP=28;Dels=0.00;FS=12.916;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.691;QD=10.18;ReadPosRankSum=-0.553;VQSLOD=3.8817;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:315,0,423 6 32811629 32811629 G T exonic PSMB8 nonsynonymous SNV PSMB8:NM_148919:exon1:c.C145A:p.Q49K 0.15 0.096 0.19 0.17 0.15 0.19 0.1453 0.1123 0.2091 0.1782 0.1272 0.1338 0.1216 0.1547 0.13 0.12 0.13 0.11 . rs2071543 COSM4161043 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Likely benign|Benign Nakajo_syndrome|not_specified RCV000303434.1|RCV000455896.1 MedGen:OMIM|MedGen C1850568:256040|CN169374 . . . . . . 0.206 0.199 T 0.226 0.288 B 0.092 0.285 B 0.000 0.504 D 0.001 0.810 P 2.64 0.775 M 1.16 0.381 T -1.04 0.301 N 0.225 0.304 -1.074 0.086 T 0.064 0.266 T . . . 2.978 0.418 22.2 0.984 0.403 0.700 0.341 D c 0.165 0.315 1.000 0.747 0.733 0.969 0 5.64 0.864 4.239 0.582 1.038 0.658 1.000 0.715 0.993 0.574 15.554 0.758 . ENSG00000168394.9|ENSG00000168394.9 Artery_Aorta|Cells_Transformed_fibroblasts 0.1438 0.1105 0.1945 0.0889 0.1788 0.1236 0.1339 0.1335 0.1528 0.1245 0.1159 0.1790 0.0861 0.1896 0.1205 0.1213 0.1222 het 1912.71 153 6 32811629 . G T 1912.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.723;DP=153;Dels=0.00;FS=0.655;HRun=1;HaplotypeScore=4.8153;MQ=58.99;MQ0=0;MQRankSum=1.003;QD=12.50;ReadPosRankSum=0.188;VQSLOD=5.8858;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,73:153:99:1943,0,2187 6 32825090 32825090 G A exonic PSMB9 nonsynonymous SNV PSMB9:NM_002800:exon3:c.G179A:p.R60H 0.22 0.23 0.22 0.21 0.26 0.19 0.2456 0.2240 0.2346 0.1997 0.2150 0.2740 0.2546 0.1913 0.25 0.21 0.27 0.24 . rs17587 . . . . . . . . . . . . . 0.215 0.193 T 0.001 0.067 B 0.002 0.063 B 0.280 0.149 N 1.000 0.322 P 1.05 0.269 L 2.11 0.199 T -1.43 0.373 N 0.055 0.399 -0.977 0.358 T 0.015 0.060 T . . . 1.675 0.262 14.26 0.982 0.386 0.047 0.103 N c -1.047 -1.052 1.000 0.462 0.722 0.854 0 -3.82 0.040 0.107 0.151 -0.545 0.048 0.001 0.137 0.564 0.282 12.929 0.575 Nucleophile aminohydrolases\x2c N-terminal|Proteasome beta-type subunit\x2c conserved site ENSG00000240065.3|ENSG00000240065.3|ENSG00000240065.3|ENSG00000204267.9|ENSG00000240065.3|ENSG00000240065.3|ENSG00000242574.4|ENSG00000240065.3|ENSG00000240065.3|ENSG00000240065.3|ENSG00000204267.9|ENSG00000240065.3|ENSG00000240065.3|ENSG00000204267.9|ENSG00000240065.3|ENSG00000204267.9|ENSG00000240065.3|ENSG00000240065.3|ENSG00000240065.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2432 0.2250 0.2314 0.2563 0.1891 0.2159 0.2765 0.2473 0.1915 0.2463 0.2134 0.2380 0.2649 0.1867 0.2349 0.2745 0.2495 het 1444.88 108 6 32825090 . G A 1444.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.106;DP=108;Dels=0.00;FS=7.504;HRun=0;HaplotypeScore=1.5317;MQ=57.19;MQ0=0;MQRankSum=1.405;QD=13.38;ReadPosRankSum=1.036;VQSLOD=4.0226;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,56:108:99:1475,0,1231 6 32904981 32904981 G A exonic HLA-DMB nonsynonymous SNV HLA-DMB:NM_002118:exon3:c.C590T:p.T197I 0.78 0.81 0.73 0.72 0.79 0.84 0.7833 0.8112 0.6411 0.6737 0.8538 0.7950 0.8208 0.8465 0.79 0.82 0.77 0.73 . rs1042337 . . . . . . . . . . . . . 0.501 0.167 T 0.0 0.026 B 0.001 0.040 B 0.428 0.047 N 1 0.090 P . . . 4.1 0.030 T -0.08 0.142 N 0.26 0.317 -0.904 0.476 T 0.002 0.007 T . . . 0.179 0.111 4.455 0.756 0.108 0.012 0.043 N c -1.111 -1.147 1.000 0.747 0.543 0.218 0 -0.903 0.100 -1.375 0.026 -0.679 0.039 0.000 0.063 0.405 0.255 4.607 0.117 Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.7767 0.8133 0.6623 0.8468 0.6763 0.8499 0.7824 0.7926 0.8419 0.8039 0.8160 0.6885 0.8609 0.6549 0.8603 0.8021 0.8476 hom 4750.19 144 6 32904981 . G A 4750.19 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.58;MQ0=0;QD=32.99;VQSLOD=9.9261;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4750,379,0 6 32942302 32942302 G A exonic BRD2 synonymous SNV BRD2:NM_001199455:exon2:c.G93A:p.K31K,BRD2:NM_001113182:exon3:c.G93A:p.K31K,BRD2:NM_005104:exon3:c.G93A:p.K31K 0.61 0.79 0.54 0.5 0.6 0.53 0.5882 0.7813 0.5143 0.5153 0.6276 0.5904 0.5839 0.5319 0.66 0.78 0.6 0.67 . rs516535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5815 0.7811 0.5092 0.6067 0.5151 0.6294 0.5876 0.5846 0.5333 0.6509 0.7755 0.5227 0.6391 0.5086 0.6352 0.6068 0.6224 hom 3639.30 108 6 32942302 . G A 3639.30 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.411;DP=108;Dels=0.01;FS=0.000;HRun=2;HaplotypeScore=2.9564;MQ=59.35;MQ0=0;MQRankSum=-0.706;QD=33.39;ReadPosRankSum=-0.834;VQSLOD=9.3333;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,107:108:99:3600,253,0 6 32946133 32946133 T C exonic BRD2 synonymous SNV BRD2:NM_001199455:exon9:c.T1809C:p.S603S,BRD2:NM_001199456:exon9:c.T1668C:p.S556S,BRD2:NM_001113182:exon10:c.T1809C:p.S603S,BRD2:NM_005104:exon10:c.T1809C:p.S603S,BRD2:NM_001291986:exon11:c.T1449C:p.S483S 0.26 0.17 0.29 0.2 0.37 0.33 0.3452 0.2038 0.2854 0.1769 0.5179 0.3867 0.3626 0.3206 0.31 0.21 0.37 0.33 . rs206781 COSM3761964 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3441 0.1961 0.2883 0.3370 0.1731 0.5158 0.3789 0.3424 0.3238 0.3434 0.2036 0.2780 0.3344 0.1687 0.5080 0.4051 0.4061 het 2112.10 170 6 32946133 . T C 2112.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.047;DP=170;Dels=0.00;FS=1.206;HRun=1;HaplotypeScore=3.7096;MQ=59.17;MQ0=0;MQRankSum=-1.529;QD=12.42;ReadPosRankSum=-0.017;VQSLOD=5.5825;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,86:170:99:2142,0,2384 6 32974934 32974934 G A exonic HLA-DOA synonymous SNV HLA-DOA:NM_002119:exon4:c.C672T:p.G224G 0.17 0.015 0.11 0.35 0.22 0.16 0.2090 0.0452 0.1198 0.4045 0.2576 0.2286 0.1895 0.1721 0.16 0.051 0.21 0.16 . rs378352 COSM3761965 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2035 0.0412 0.1241 0.0913 0.4136 0.2486 0.2265 0.1886 0.1747 0.1925 0.0477 0.1447 0.1026 0.4541 0.2421 0.2384 0.2413 het 1285.48 115 6 32974934 . G A 1285.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.159;DP=115;Dels=0.00;FS=3.621;HRun=0;HaplotypeScore=1.7262;MQ=59.35;MQ0=0;MQRankSum=-0.020;QD=11.18;ReadPosRankSum=0.015;VQSLOD=5.8128;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,48:115:99:1315,0,1969 6 32975257 32975257 C T exonic HLA-DOA synonymous SNV HLA-DOA:NM_002119:exon3:c.G444A:p.L148L 0.39 0.31 0.35 0.55 0.43 0.34 0.4053 0.3426 0.2419 0.5699 0.4538 0.4254 0.3956 0.3713 0.4 0.36 0.43 0.3 . rs365066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3964 0.3372 0.2539 0.2737 0.5796 0.4449 0.4294 0.3853 0.3658 0.4154 0.3473 0.3031 0.29 0.6262 0.4495 0.4327 0.4202 het 2777.63 222 6 32975257 . C T 2777.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.833;DP=222;DS;Dels=0.00;FS=2.374;HRun=0;HaplotypeScore=4.1828;MQ=59.66;MQ0=0;MQRankSum=-0.033;QD=12.51;ReadPosRankSum=0.713;VQSLOD=5.8572;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:115,106:222:99:2808,0,3255 6 32975869 32975869 G A exonic HLA-DOA synonymous SNV HLA-DOA:NM_002119:exon2:c.C252T:p.G84G 0.19 0.064 0.12 0.35 0.25 0.17 0.2357 0.0986 0.1301 0.4092 0.2897 0.2603 0.2055 0.1810 0.2 0.1 0.26 0.17 . rs375256 COSM3761969;COSM3761968 1(large_intestine) . . . . . . . . . . . 0.047 0.403 D . . . . . . . . . 0.827 0.288 P . . . . . . 0.17 0.051 N . . -1.018 0.243 T 0.029 0.124 T . . . 0.393 0.132 6.554 0.619 0.067 0.008 0.033 N c -1.514 -1.763 1.000 0.747 0.745 0.986 0 -9.0 0.006 -3.921 0.004 -1.179 0.016 0.000 0.063 0.001 0.043 3.828 0.083 . ENSG00000231925.7|ENSG00000204209.6|ENSG00000231925.7|ENSG00000204252.8|ENSG00000204252.8|ENSG00000204209.6|ENSG00000204252.8 Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Whole_Blood 0.2290 0.0946 0.1362 0.1007 0.4166 0.2785 0.2608 0.2122 0.1831 0.2280 0.1012 0.1639 0.1159 0.4565 0.2765 0.2695 0.2643 het 692.69 47 6 32975869 . G A 692.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.864;DP=47;Dels=0.00;FS=4.422;HRun=0;HaplotypeScore=1.7326;MQ=59.01;MQ0=0;MQRankSum=0.077;QD=14.74;ReadPosRankSum=0.317;VQSLOD=6.1010;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,29:47:99:723,0,453 6 33036505 33036505 G C exonic HLA-DPA1 synonymous SNV HLA-DPA1:NM_033554:exon4:c.C705G:p.V235V,HLA-DPA1:NM_001242524:exon5:c.C705G:p.V235V,HLA-DPA1:NM_001242525:exon5:c.C705G:p.V235V 0.48 0.71 0.3 0.68 0.19 0.37 0.2579 0.6162 0.1672 0.6759 0.0984 0.1676 0.2126 0.3196 0.32 0.57 0.18 0.48 . rs1042434 COSM3761971 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2500 0.6221 0.1809 0.1975 0.6821 0.1018 0.1717 0.2120 0.3200 0.3113 0.5953 0.2038 0.1854 0.7313 0.1138 0.1630 0.2014 het 1402.54 120 6 33036505 . G C 1402.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.768;DP=120;Dels=0.00;FS=4.502;HRun=2;HaplotypeScore=3.8111;MQ=57.85;MQ0=0;MQRankSum=0.376;QD=11.69;ReadPosRankSum=-1.013;VQSLOD=4.5101;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,56:120:99:1433,0,1669 6 33036853 33036853 A C exonic HLA-DPA1 nonsynonymous SNV HLA-DPA1:NM_033554:exon3:c.T571G:p.F191V,HLA-DPA1:NM_001242524:exon4:c.T571G:p.F191V,HLA-DPA1:NM_001242525:exon4:c.T571G:p.F191V 0.44 0.58 0.28 0.68 0.19 0.36 0.2481 0.5106 0.1590 0.6772 0.0983 0.1666 0.2053 0.3194 0.28 0.47 0.18 0.4 . rs1042308 COSM3761972 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.176 0.172 N 1 0.090 P -1.03 0.011 N 4.24 0.026 T 0.77 0.020 N 0.017 0.442 -0.939 0.428 T 0.007 0.025 T . . . -1.768 0.011 0.002 0.565 0.054 0.030 0.077 N c -1.215 -1.327 1.000 0.747 0.633 0.409 0 -3.7 0.041 -0.255 0.087 -0.434 0.058 0.001 0.137 0.001 0.043 8.001 0.293 Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000204248.6|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood 0.2417 0.5137 0.1733 0.1838 0.6820 0.1019 0.1713 0.2058 0.3197 0.2824 0.4948 0.1933 0.1667 0.7325 0.1138 0.1632 0.1953 het 3006.82 250 6 33036853 . A C 3006.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.040;DP=250;DS;Dels=0.00;FS=2.160;HRun=0;HaplotypeScore=11.3876;MQ=57.78;MQ0=1;MQRankSum=-0.533;QD=12.03;ReadPosRankSum=-0.737;VQSLOD=2.6868;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,114:250:99:3037,0,3977 6 33036951 33036951 A G exonic HLA-DPA1 nonsynonymous SNV HLA-DPA1:NM_033554:exon3:c.T473C:p.L158P,HLA-DPA1:NM_001242524:exon4:c.T473C:p.L158P,HLA-DPA1:NM_001242525:exon4:c.T473C:p.L158P 0.44 0.58 0.28 0.68 0.19 0.37 0.2474 0.5097 0.1579 0.6738 0.0982 0.1663 0.2053 0.3191 0.28 0.47 0.17 0.24 . rs2308930 COSM3761973 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.705 0.101 N 1 0.090 P -1.665 0.004 N 4.21 0.027 T 3.26 0.001 N 0.044 0.554 -0.965 0.383 T 0.000 0.002 T . . . -0.399 0.062 0.389 0.784 0.119 0.011 0.040 N c -1.642 -1.520 1.000 0.747 0.661 0.498 0 1.52 0.221 -1.269 0.029 -0.294 0.082 0.000 0.063 0.027 0.143 3.676 0.078 Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000204248.6|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood 0.2416 0.5135 0.1731 0.1838 0.6820 0.1017 0.1712 0.2056 0.3197 0.2802 0.4919 0.1933 0.1689 0.7240 0.1139 0.1618 0.1961 het 2729.14 230 6 33036951 . A G 2729.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.192;DP=230;DS;Dels=0.00;FS=0.542;HRun=1;HaplotypeScore=5.9692;MQ=56.98;MQ0=0;MQRankSum=0.895;QD=11.87;ReadPosRankSum=-0.047;VQSLOD=3.5327;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,104:230:99:2759,0,3794 6 33036959 33036959 G A exonic HLA-DPA1 synonymous SNV HLA-DPA1:NM_033554:exon3:c.C465T:p.N155N,HLA-DPA1:NM_001242524:exon4:c.C465T:p.N155N,HLA-DPA1:NM_001242525:exon4:c.C465T:p.N155N 0.44 0.58 0.28 0.68 0.19 0.37 0.2477 0.5099 0.1578 0.6736 0.0982 0.1668 0.2053 0.3189 0.28 0.47 0.18 0.4 . rs2308929 COSM3761974 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2420 0.5135 0.1732 0.1837 0.6825 0.1016 0.1719 0.2056 0.3197 0.2804 0.4916 0.1933 0.1689 0.7230 0.1143 0.1623 0.1973 het 2885.36 238 6 33036959 . G A 2885.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.218;DP=238;DS;Dels=0.00;FS=0.558;HRun=0;HaplotypeScore=7.1632;MQ=56.97;MQ0=0;MQRankSum=0.614;QD=12.12;ReadPosRankSum=-0.141;VQSLOD=3.2770;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,111:238:99:2915,0,3524 6 33036971 33036971 C T exonic HLA-DPA1 synonymous SNV HLA-DPA1:NM_033554:exon3:c.G453A:p.T151T,HLA-DPA1:NM_001242524:exon4:c.G453A:p.T151T,HLA-DPA1:NM_001242525:exon4:c.G453A:p.T151T 0.44 0.58 0.28 0.68 0.19 0.37 0.2476 0.5095 0.1586 0.6732 0.0982 0.1665 0.2053 0.3193 0.28 0.47 0.18 0.4 . rs2308928 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2415 0.5134 0.1730 0.1835 0.6822 0.1015 0.1710 0.2054 0.3196 0.2821 0.4953 0.1926 0.1689 0.7251 0.1140 0.1628 0.1963 het 2632.99 228 6 33036971 . C T 2632.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.553;DP=228;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8131;MQ=57.21;MQ0=0;MQRankSum=-1.702;QD=11.55;ReadPosRankSum=1.242;VQSLOD=2.7515;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,102:228:99:2663,0,3215 6 33036999 33036999 T C exonic HLA-DPA1 nonsynonymous SNV HLA-DPA1:NM_033554:exon3:c.A425G:p.K142R,HLA-DPA1:NM_001242524:exon4:c.A425G:p.K142R,HLA-DPA1:NM_001242525:exon4:c.A425G:p.K142R 0.43 0.58 0.28 0.65 0.19 0.36 0.2443 0.5016 0.1581 0.6499 0.0982 0.1665 0.2041 0.3128 0.28 0.46 0.18 0.26 . rs1042190 COSM3761975 1(large_intestine) . . . . . . . . . . . 0.179 0.280 T 0.061 0.217 B 0.102 0.293 B 0.001 0.437 U 0.980 0.251 P 1.595 0.408 L 6.24 0.085 T -1.33 0.332 N 0.055 0.535 -1.019 0.240 T 0.009 0.034 T . . . 2.136 0.318 17.09 0.994 0.606 0.432 0.268 N c -0.346 -0.311 1.000 0.747 0.661 0.498 0 0.821 0.179 0.674 0.247 0.073 0.181 0.180 0.238 0.921 0.396 6.448 0.210 Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000204248.6|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood 0.2381 0.5057 0.1723 0.183 0.6559 0.1016 0.1710 0.2040 0.3127 0.2782 0.4866 0.1921 0.1689 0.6960 0.1140 0.1633 0.1926 het 2192.01 174 6 33036999 . T C 2192.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.262;DP=174;Dels=0.00;FS=5.670;HRun=1;HaplotypeScore=7.6330;MQ=57.89;MQ0=0;MQRankSum=0.901;QD=12.53;ReadPosRankSum=-0.379;VQSLOD=4.2122;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,79:174:99:2222,0,2636 6 33052950 33052950 T C exonic HLA-DPB1 synonymous SNV HLA-DPB1:NM_002121:exon3:c.T588C:p.D196D 0.46 0.6 0.33 0.62 0.32 0.36 0.3253 0.5765 0.2117 0.6263 0.2467 0.2813 0.2952 0.3087 0.39 0.56 0.3 0.45 . rs1042331 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3167 0.5785 0.2183 0.1913 0.6322 0.2537 0.2907 0.2865 0.3076 0.3814 0.5647 0.2374 0.1921 0.6760 0.2586 0.2908 0.2813 het 2565.86 211 6 33052950 . T C 2565.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.896;DP=211;DS;Dels=0.00;FS=1.098;HRun=0;HaplotypeScore=10.2878;MQ=58.80;MQ0=0;MQRankSum=-1.101;QD=12.16;ReadPosRankSum=-0.044;VQSLOD=3.0939;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:109,102:211:99:2596,0,2774 6 33052958 33052958 C T exonic HLA-DPB1 nonsynonymous SNV HLA-DPB1:NM_002121:exon3:c.C596T:p.T199I 0.46 0.6 0.33 0.62 0.32 0.37 0.3267 0.5772 0.2126 0.6267 0.2470 0.2814 0.2963 0.3168 0.39 0.56 0.3 0.42 . rs1042335 . . . . . . . . . . . . . 0.076 0.361 T 0.023 0.278 B 0.081 0.357 B 0.013 0.291 N 1.000 0.200 P 2.7 0.793 M 3.92 0.035 T -3.71 0.711 D 0.054 0.520 -1.059 0.120 T 0.008 0.029 T . . . 3.867 0.522 23.5 0.975 0.336 0.208 0.210 N c -0.601 -0.641 1.000 0.747 0.707 0.730 0 0.814 0.178 -0.098 0.109 -0.345 0.071 0.001 0.137 0.330 0.242 5.506 0.160 Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin-like fold|Immunoglobulin/major histocompatibility complex\x2c conserved site ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000224796.1|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000224557.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000223865.6|ENSG00000223865.6|ENSG00000223865.6|ENSG00000223865.6|ENSG00000223865.6|ENSG00000223865.6|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000224796.1|ENSG00000224796.1|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000223865.6|ENSG00000223865.6|ENSG00000223865.6|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000223865.6|ENSG00000223865.6|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000223865.6|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000224796.1|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000223865.6|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3177 0.5791 0.2187 0.1909 0.6325 0.2535 0.2908 0.2868 0.3141 0.3818 0.5655 0.2368 0.1921 0.6760 0.2586 0.2910 0.2835 het 2589.63 220 6 33052958 . C T 2589.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.461;DP=220;DS;Dels=0.00;FS=0.513;HRun=0;HaplotypeScore=9.7070;MQ=58.71;MQ0=0;MQRankSum=-1.563;QD=11.77;ReadPosRankSum=0.174;VQSLOD=2.8792;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,104:220:99:2620,0,3048 6 33052986 33052986 T C exonic HLA-DPB1 synonymous SNV HLA-DPB1:NM_002121:exon3:c.T624C:p.D208D 0.46 0.6 0.33 0.62 0.32 0.37 0.3305 0.5788 0.2128 0.6284 0.2475 0.2831 0.3024 0.3337 0.39 0.56 0.3 0.43 . rs1071597 COSM4406930;COSM4406929 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3182 0.5795 0.2186 0.1914 0.6325 0.2537 0.2912 0.2876 0.3142 0.3843 0.5683 0.2374 0.1921 0.6795 0.2596 0.2931 0.2838 het 2527.50 202 6 33052986 . T C 2527.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.652;DP=202;Dels=0.00;FS=2.700;HRun=0;HaplotypeScore=7.5386;MQ=58.07;MQ0=0;MQRankSum=-0.057;QD=12.51;ReadPosRankSum=-0.023;VQSLOD=3.8829;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,96:202:99:2557,0,2773 6 33053577 33053577 G A exonic HLA-DPB1 nonsynonymous SNV HLA-DPB1:NM_002121:exon4:c.G668A:p.R223Q 0.14 0.41 0.043 0.006 0.044 0.073 0.0708 0.3351 0.0298 0.0051 0.0455 0.0475 0.0486 0.0730 0.14 0.31 0.052 0.2 . rs9276 COSM3761986;COSM3761987 1(breast);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.072 0.225 B 0.019 0.176 B 0.992 0.079 N 1.000 0.210 P 0.665 0.163 N 6.11 0.006 T 0.43 0.033 N 0.053 0.372 -0.987 0.335 T 0.001 0.002 T . . . 1.616 0.256 13.94 0.221 0.009 0.044 0.098 N c -0.952 -0.920 1.000 0.441 0.707 0.730 0 1.79 0.239 -0.063 0.115 0.128 0.215 0.006 0.172 0.603 0.289 4.683 0.120 Immunoglobulin-like fold ENSG00000231389.3|ENSG00000223865.6|ENSG00000224796.1|ENSG00000224557.3|ENSG00000231389.3|ENSG00000204257.10|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000224557.3|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000223865.6|ENSG00000231389.3|ENSG00000224557.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.0641 0.3380 0.0342 0.0126 0.0040 0.0511 0.0503 0.0463 0.0734 0.1326 0.3309 0.0395 0.0397 0.0111 0.0657 0.0578 0.0633 het 1336 94 6 33053577 . G A 1336 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.663;DP=94;Dels=0.00;FS=6.765;HRun=0;HaplotypeScore=0.9989;MQ=57.65;MQ0=0;MQRankSum=0.166;QD=14.21;ReadPosRankSum=-0.205;VQSLOD=4.3815;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,51:94:99:1366,0,1042 6 33139328 33139328 C T exonic COL11A2 synonymous SNV COL11A2:NM_080679:exon40:c.G2853A:p.P951P,COL11A2:NM_080681:exon41:c.G2916A:p.P972P,COL11A2:NM_080680:exon43:c.G3174A:p.P1058P 0.51 0.68 0.39 0.34 0.44 0.62 0.4642 0.6519 0.2900 0.3312 0.3937 0.4571 0.4853 0.5915 0.51 0.63 0.45 0.4 . rs1799910 COSM4161058 1(thyroid) Benign|Benign|Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Nonsyndromic_Hearing_Loss\x2c_Dominant|Weissenbacher-Zweymuller_syndrome|Otospondylomegaepiphyseal_dysplasia|Fibrochondrogenesis RCV000039835.4|RCV000292997.1|RCV000297184.1|RCV000352512.1|RCV000387271.1|RCV000408209.1 MedGen|MedGen|MedGen|MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239460|CN239435|C1848488:277610|C0432210:215150:254060000|C0265282:228520:ORPHA2021:17144009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4489 0.6577 0.2875 0.4949 0.3323 0.3874 0.4560 0.4627 0.5881 0.4959 0.6539 0.3198 0.4702 0.3242 0.4035 0.4576 0.4487 het 305.64 29 6 33139328 . C T 305.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.986;DP=29;Dels=0.00;FS=1.510;HRun=1;HaplotypeScore=0.8667;MQ=58.55;MQ0=0;MQRankSum=-1.680;QD=10.54;ReadPosRankSum=0.633;VQSLOD=5.1068;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,14:29:99:336,0,352 6 33141161 33141161 A G exonic COL11A2 synonymous SNV COL11A2:NM_080679:exon34:c.T2379C:p.D793D,COL11A2:NM_080681:exon35:c.T2442C:p.D814D,COL11A2:NM_080680:exon37:c.T2700C:p.D900D 0.88 0.92 0.8 0.98 0.73 0.93 0.7871 0.8822 0.8071 0.9860 0.7045 0.7246 0.8047 0.8944 0.78 0.86 0.73 0.85 . rs2229785 . . Benign|Benign|Benign|Benign|Benign|Benign not_specified|Weissenbacher-Zweymuller_syndrome|Otospondylomegaepiphyseal_dysplasia|Fibrochondrogenesis|Stickler_Syndrome\x2c_Dominant|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000039832.5|RCV000261448.1|RCV000283893.1|RCV000318977.1|RCV000322266.1|RCV000376020.1 MedGen|MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen CN169374|C1848488:277610|C0432210:215150:254060000|C0265282:228520:ORPHA2021:17144009|CN239460|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7894 0.8835 0.8074 0.8447 0.9879 0.7003 0.7226 0.7858 0.8928 0.7808 0.8779 0.7943 0.8133 0.9889 0.7153 0.7189 0.7269 het 584.40 64 6 33141161 . A G 584.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.146;DP=64;Dels=0.00;FS=2.263;HRun=0;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;MQRankSum=-0.160;QD=9.13;ReadPosRankSum=0.563;VQSLOD=5.6213;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,28:64:99:614,0,941 6 33153528 33153528 C T exonic COL11A2 nonsynonymous SNV COL11A2:NM_080680:exon6:c.G826A:p.E276K 0.32 0.39 0.27 0.24 0.28 0.4 0.3037 0.3657 0.1872 0.2402 0.2027 0.3121 0.3184 0.3919 0.33 0.37 0.31 0.25 . rs9277934 COSM5479880 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Otospondylomegaepiphyseal_dysplasia|Fibrochondrogenesis|Nonsyndromic_Hearing_Loss\x2c_Dominant|Weissenbacher-Zweymuller_syndrome RCV000039839.4|RCV000266541.1|RCV000306396.1|RCV000321415.1|RCV000361205.1|RCV000393056.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:OMIM CN169374|CN239460|C0432210:215150:254060000|C0265282:228520:ORPHA2021:17144009|CN239435|C1848488:277610 . . . . . . 0.655 0.064 T 0.976 0.564 D 0.651 0.507 P 0.360 0.137 U 0.294 0.810 P 0.695 0.181 N -2.32 0.900 D -0.85 0.240 N 0.269 0.327 -0.520 0.679 T 0.387 0.742 T . . . 1.842 0.282 15.24 0.991 0.529 0.915 0.534 D c 0.058 0.084 0.999 0.374 0.646 0.450 0 3.8 0.427 1.224 0.319 0.786 0.318 1.000 0.715 0.999 0.750 11.346 0.486 . ENSG00000230313.1|ENSG00000230313.1|ENSG00000231500.2 Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Muscularis 0.2970 0.3676 0.1937 0.3703 0.2382 0.2110 0.3126 0.3152 0.3908 0.3102 0.3687 0.2075 0.3851 0.2106 0.2344 0.3109 0.2985 het 812.94 67 6 33153528 . C T 812.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.253;DP=67;Dels=0.00;FS=0.942;HRun=1;HaplotypeScore=0.9578;MQ=58.36;MQ0=0;MQRankSum=-1.136;QD=12.13;ReadPosRankSum=0.948;VQSLOD=4.9599;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:843,0,719 6 33163451 33163451 G A exonic RXRB synonymous SNV RXRB:NM_001291989:exon6:c.C582T:p.F194F,RXRB:NM_001270401:exon7:c.C1152T:p.F384F,RXRB:NM_021976:exon7:c.C1152T:p.F384F 0.86 0.89 0.79 0.95 0.72 0.91 0.7727 0.8371 0.7976 0.9730 0.7005 0.7159 0.8011 0.8619 0.76 0.82 0.72 0.83 . rs6531 COSM4161062;COSM4161061 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7739 0.8411 0.7945 0.8080 0.9747 0.6980 0.7151 0.7739 0.8593 0.7630 0.8370 0.7828 0.7815 0.9752 0.7119 0.7104 0.7188 het 1298.73 78 6 33163451 . G A 1298.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.417;DP=78;Dels=0.00;FS=4.188;HRun=2;HaplotypeScore=2.8748;MQ=58.92;MQ0=0;MQRankSum=-1.847;QD=16.65;ReadPosRankSum=1.284;VQSLOD=4.2492;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,43:78:99:1329,0,993 6 33235755 33235755 G A exonic VPS52 synonymous SNV VPS52:NM_001289174:exon8:c.C619T:p.L207L,VPS52:NM_001289175:exon9:c.C445T:p.L149L,VPS52:NM_001289176:exon9:c.C445T:p.L149L,VPS52:NM_022553:exon9:c.C820T:p.L274L 0.44 0.45 0.38 0.58 0.38 0.41 0.3881 0.4307 0.3358 0.6372 0.3946 0.3586 0.4224 0.3813 0.38 0.43 0.36 0.41 . rs213199 COSM3761991 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3881 0.4324 0.3369 0.4335 0.6286 0.3967 0.3559 0.3982 0.3800 0.4016 0.4283 0.3341 0.43 0.6114 0.4186 0.3627 0.3990 het 2579.97 216 6 33235755 . G A 2579.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.755;DP=216;Dels=0.00;FS=0.502;HRun=1;HaplotypeScore=6.4319;MQ=58.61;MQ0=0;MQRankSum=1.095;QD=11.94;ReadPosRankSum=1.714;VQSLOD=4.7547;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,101:216:99:2610,0,3151 6 33256471 33256471 T C exonic WDR46 nonsynonymous SNV WDR46:NM_001164267:exon3:c.A118G:p.T40A,WDR46:NM_005452:exon3:c.A280G:p.T94A 0.97 0.99 0.92 1. 0.9 0.99 0.9257 0.9801 0.8495 0.9978 0.9244 0.9048 0.9523 0.9908 0.92 0.98 0.89 0.96 . rs3130257 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.090 P -2.565 0.000 N 2.26 0.207 T 0.5 0.030 N 0.02 0.134 -0.929 0.443 T 0.004 0.011 T . . . -0.136 0.081 1.477 0.696 0.087 0.034 0.084 N c -0.984 -0.694 1.000 0.747 0.733 0.969 0 4.87 0.627 0.819 0.268 0.063 0.168 1.000 0.715 0.676 0.304 9.211 0.363 . ENSG00000227057.3|ENSG00000096433.6 Artery_Tibial|Whole_Blood 0.9219 0.9815 0.8566 0.9905 0.9978 0.9181 0.8966 0.9359 0.9911 0.9299 0.9755 0.8738 0.9901 0.9975 0.9181 0.9004 0.9324 hom 1663.64 53 6 33256471 . T C 1663.64 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=31.39;VQSLOD=9.6769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1697,129,0 6 33272855 33272855 G C exonic TAPBP nonsynonymous SNV TAPBP:NM_172209:exon3:c.C518G:p.T173R,TAPBP:NM_003190:exon4:c.C779G:p.T260R,TAPBP:NM_172208:exon4:c.C779G:p.T260R 0.59 0.76 0.57 0.42 0.52 0.64 0.5682 0.7477 0.5378 0.3724 0.5384 0.5525 0.5463 0.6550 0.61 0.74 0.54 0.58 . rs2071888 COSM1180608;COSM1180607 1(pancreas);1(upper_aerodigestive_tract);1(large_intestine) Benign not_specified RCV000455054.1 MedGen CN169374 . . . . . . 1.0 0.046 T 0.0 0.377 B 0.001 0.327 B 0.023 0.265 N 1 0.090 P . . . 1.62 0.286 T -0.04 0.084 N 0.016 0.018 -1.042 0.168 T 0.018 0.075 T . . . -0.019 0.092 2.407 0.176 0.005 0.124 0.171 N c -1.004 -0.939 0.998 0.370 0.707 0.730 0 3.82 0.430 0.365 0.199 -0.407 0.061 0.001 0.137 0.194 0.216 13.341 0.598 . ENSG00000231925.7|ENSG00000030110.8|ENSG00000204209.6|ENSG00000231925.7|ENSG00000204209.6|ENSG00000231925.7|ENSG00000231925.7|ENSG00000231925.7|ENSG00000204209.6|ENSG00000231925.7|ENSG00000204209.6|ENSG00000231925.7|ENSG00000231500.2|ENSG00000231925.7|ENSG00000231925.7|ENSG00000227057.3|ENSG00000231925.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.5593 0.7501 0.5447 0.5689 0.3764 0.5275 0.5449 0.5512 0.6563 0.5863 0.7405 0.5695 0.5795 0.3901 0.5052 0.5399 0.5492 het 2357.89 161 6 33272855 . G C 2357.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DP=161;DS;Dels=0.00;FS=3.676;HRun=0;HaplotypeScore=5.2400;MQ=58.72;MQ0=0;MQRankSum=0.635;QD=14.65;ReadPosRankSum=0.792;VQSLOD=5.1090;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:84,77:161:99:2388,0,2528 6 33283766 33283766 T C exonic ZBTB22 nonsynonymous SNV ZBTB22:NM_001145338:exon2:c.A928G:p.T310A,ZBTB22:NM_005453:exon2:c.A928G:p.T310A 0.53 0.57 0.55 0.39 0.53 0.63 0.5465 0.5635 0.5290 0.3456 0.5371 0.5502 0.5243 0.6433 0.55 0.56 0.54 0.52 . rs3130100 COSM3761994 1(thyroid);2(large_intestine) Benign not_specified RCV000455781.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.182 P -1.39 0.006 N 3.67 0.042 T 0.25 0.045 N 0.017 0.003 -0.926 0.448 T 0.001 0.005 T . . . -2.136 0.006 0.001 0.582 0.058 0.119 0.168 N c -1.397 -1.232 1.000 0.441 0.722 0.854 0 3.0 0.336 1.619 0.363 -0.371 0.067 0.038 0.207 0.916 0.392 5.355 0.153 . ENSG00000204209.6|ENSG00000231925.7|ENSG00000204209.6|ENSG00000231925.7|ENSG00000231925.7|ENSG00000204209.6|ENSG00000231925.7|ENSG00000204209.6|ENSG00000231925.7|ENSG00000030110.8|ENSG00000231925.7|ENSG00000231925.7|ENSG00000236104.2 Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.5405 0.5614 0.5337 0.5641 0.3474 0.5262 0.5420 0.5374 0.6439 0.5311 0.5553 0.5609 0.57 0.3515 0.5060 0.5388 0.5448 het 2385.75 165 6 33283766 . T C 2385.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.712;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3163;MQ=59.72;MQ0=0;MQRankSum=-0.162;QD=14.46;ReadPosRankSum=-0.322;VQSLOD=5.1861;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,89:165:99:2416,0,1751 6 33288271 33288271 A G exonic DAXX synonymous SNV DAXX:NM_001254717:exon3:c.T912C:p.Y304Y,DAXX:NM_001141969:exon4:c.T1137C:p.Y379Y,DAXX:NM_001141970:exon4:c.T1173C:p.Y391Y,DAXX:NM_001350:exon4:c.T1137C:p.Y379Y 0.22 0.018 0.34 0.26 0.29 0.29 0.2955 0.0545 0.3765 0.2441 0.3792 0.3143 0.2786 0.3082 0.22 0.063 0.3 0.2 . rs1059231 COSM5019618 1(breast);8(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2991 0.0490 0.3670 0.2222 0.2507 0.3693 0.3112 0.2727 0.3107 0.2464 0.0532 0.3699 0.2450 0.2519 0.3484 0.3226 0.3238 het 1757.13 136 6 33288271 . A G 1757.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.383;DP=136;Dels=0.00;FS=4.177;HRun=0;HaplotypeScore=1.7882;MQ=59.11;MQ0=0;MQRankSum=-0.115;QD=12.92;ReadPosRankSum=-0.921;VQSLOD=6.1536;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,70:136:99:1787,0,1745 6 33382288 33382288 G A exonic PHF1 nonsynonymous SNV PHF1:NM_002636:exon10:c.G911A:p.R304K,PHF1:NM_024165:exon10:c.G911A:p.R304K 0.98 1. 0.98 1. 0.91 0.99 0.9515 0.9849 0.9810 0.9994 0.9342 0.9255 0.9657 0.9959 0.94 0.98 0.91 0.96 . rs3116713 . . . . . . . . . . . . . 0.553 0.129 T 0.002 0.090 B 0.006 0.112 B 0.001 0.436 N 1.000 0.090 P 1.15 0.294 L 2.03 0.210 T -0.51 0.160 N 0.026 0.071 -0.958 0.396 T 0.011 0.039 T . . . 1.097 0.199 11.20 0.951 0.256 0.102 0.156 N c -0.468 -0.248 1.000 0.747 0.731 0.878 0 4.27 0.498 4.529 0.601 0.244 0.267 0.971 0.341 0.996 0.625 8.671 0.331 . ENSG00000231925.7|ENSG00000096433.6 Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood 0.9514 0.9861 0.9802 0.9939 0.9997 0.9320 0.9181 0.9566 0.9961 0.9478 0.9822 0.9821 0.9933 0.9994 0.9303 0.9233 0.9480 hom 5235.18 167 6 33382288 . G A 5235.18 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2277;MQ=59.22;MQ0=0;QD=31.35;VQSLOD=8.2407;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5235,403,0 6 33384473 33384473 C T exonic CUTA nonsynonymous SNV CUTA:NM_015921:exon5:c.G425A:p.R142H,CUTA:NM_001014433:exon6:c.G551A:p.R184H,CUTA:NM_001014837:exon6:c.G425A:p.R142H,CUTA:NM_001014838:exon6:c.G425A:p.R142H,CUTA:NM_001014840:exon6:c.G494A:p.R165H 0.0056 0.0008 0.01 . 0.019 0.001 0.0203 0.0039 0.0015 0 0.0386 0.0321 0.0077 0.0003 0.017 0.0068 0.022 . . rs41267649 . . . . . . . . . . . . . 0.334 0.188 T 0.001 0.067 B 0.003 0.080 B 0.273 0.151 N 1 0.218 N 0.53 0.137 N . . . -0.53 0.164 N 0.03 0.045 -1.033 0.196 T 0.022 0.094 T . . . 1.505 0.243 13.34 0.864 0.160 0.014 0.047 N c -1.475 -1.511 1.000 0.747 0.543 0.218 0 -5.17 0.026 -2.251 0.013 -1.489 0.010 0.004 0.165 0.852 0.355 13.762 0.623 Nitrogen regulatory PII-like\x2c alpha/beta . . 0.0175 0.0033 0.0015 0.0005 0 0.0358 0.0298 0.0124 0.0002 0.0175 0.0032 0.0060 0 0 0.0370 0.0236 0.0256 het 1539.95 120 6 33384473 . C T 1539.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.438;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1517;MQ=58.90;MQ0=0;MQRankSum=1.411;QD=12.83;ReadPosRankSum=-0.749;VQSLOD=5.1452;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,61:120:99:1570,0,1296 6 33422976 33422976 T G exonic ZBTB9 synonymous SNV ZBTB9:NM_152735:exon2:c.T99G:p.S33S 0.97 0.99 0.92 0.99 0.93 0.99 0.9420 0.9789 0.8818 0.9950 0.9322 0.9291 0.9615 0.9886 0.94 0.98 0.92 0.97 . rs3119025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9402 0.9799 0.8894 0.9871 0.9950 0.9291 0.9256 0.9524 0.9891 0.9454 0.9766 0.9081 0.9934 0.9963 0.9281 0.9272 0.9407 hom 7601.38 250 6 33422976 . T G 7601.38 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5602;MQ=58.45;MQ0=0;QD=30.41;VQSLOD=5.5196;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7600,650,0 6 33636907 33636907 C T exonic ITPR3 synonymous SNV ITPR3:NM_002224:exon18:c.C2163T:p.H721H 0.49 0.37 0.48 0.52 0.5 0.61 0.5173 0.3824 0.4450 0.5270 0.4906 0.5302 0.4912 0.6079 0.48 0.39 0.53 0.5 0.47 rs2077163 COSM4406939;COSM4406938 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5152 0.3779 0.4503 0.4591 0.5249 0.4880 0.5367 0.5073 0.6097 0.4797 0.3888 0.4796 0.45 0.5235 0.4994 0.5231 0.4898 hom 3310.07 102 6 33636907 . C T 3310.07 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.63;MQ0=0;QD=32.45;VQSLOD=9.5212;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3310,265,0 6 33638180 33638180 C T exonic ITPR3 synonymous SNV ITPR3:NM_002224:exon19:c.C2268T:p.G756G 0.34 0.16 0.28 0.47 0.28 0.52 0.3284 0.1765 0.2613 0.4750 0.3662 0.2965 0.3051 0.5095 0.26 0.18 0.3 0.3 0.29 rs2229634 COSM4418863;COSM4418864 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3275 0.1715 0.2627 0.1830 0.4769 0.3619 0.3023 0.2898 0.5115 0.2820 0.1785 0.2780 0.2152 0.4907 0.3730 0.2964 0.3398 het 3008.58 232 6 33638180 . C T 3008.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.013;DP=232;Dels=0.00;FS=6.481;HRun=0;HaplotypeScore=6.7053;MQ=59.80;MQ0=0;MQRankSum=1.431;QD=12.97;ReadPosRankSum=-0.260;VQSLOD=4.5006;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:110,121:232:99:3039,0,2868 6 33641379 33641379 T C exonic ITPR3 synonymous SNV ITPR3:NM_002224:exon23:c.T2940C:p.N980N 0.47 0.31 0.48 0.53 0.51 0.61 0.5105 0.3213 0.4425 0.5341 0.4903 0.5274 0.4923 0.6061 0.46 0.33 0.53 0.49 0.54 rs1803831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5100 0.3168 0.4470 0.4570 0.5316 0.4878 0.5343 0.5049 0.6087 0.4599 0.3238 0.4676 0.4533 0.5278 0.4989 0.5207 0.4877 hom 7758.78 249 6 33641379 . T C 7758.78 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5237;MQ=59.40;MQ0=0;QD=31.16;VQSLOD=7.2890;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7757,635,0 6 33643558 33643558 G A exonic ITPR3 synonymous SNV ITPR3:NM_002224:exon25:c.G3207A:p.P1069P 0.18 0.19 0.24 0.07 0.28 0.11 0.2709 0.2306 0.2633 0.0910 0.2118 0.3325 0.2851 0.1567 0.25 0.2 0.28 0.21 0.16 rs2229637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2277 0.1945 0.2122 0.3459 0.0595 0.1693 0.2880 0.2702 0.1350 0.2246 0.1935 0.2189 0.3212 0.0389 0.1616 0.2781 0.1895 het 432.39 31 6 33643558 . G A 432.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.273;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.759;QD=13.95;ReadPosRankSum=1.364;VQSLOD=11.0975;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,16:31:99:462,0,435 6 33648144 33648144 C T exonic ITPR3 synonymous SNV ITPR3:NM_002224:exon32:c.C4263T:p.Y1421Y 0.11 0.3 0.037 0.059 0.045 0.052 0.0603 0.2570 0.0295 0.0535 0.0182 0.0444 0.0391 0.0433 0.11 0.24 0.046 0.11 0.082 rs11967839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0548 0.2568 0.0334 0.0767 0.0527 0.0194 0.0431 0.0496 0.0416 0.0986 0.2370 0.0383 0.0912 0.0488 0.0279 0.0450 0.0473 het 1115.25 78 6 33648144 . C T 1115.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DP=78;Dels=0.00;FS=2.070;HRun=0;HaplotypeScore=4.7171;MQ=58.84;MQ0=0;MQRankSum=0.322;QD=14.30;ReadPosRankSum=0.582;VQSLOD=5.6606;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:38,39:78:99:1145,0,930 6 33653448 33653448 C T exonic ITPR3 synonymous SNV ITPR3:NM_002224:exon41:c.C5511T:p.G1837G 0.51 0.1 0.57 0.86 0.46 0.71 0.5244 0.1698 0.6499 0.8956 0.5899 0.4639 0.5166 0.7021 0.35 0.19 0.43 0.38 0.35 rs749338 COSM3722214;COSM3722213 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5324 0.1608 0.6315 0.4512 0.9025 0.5771 0.4526 0.4785 0.6917 0.4150 0.1673 0.5800 0.4767 0.9184 0.5746 0.4491 0.5327 het 1294.04 101 6 33653448 . C T 1294.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.488;DP=101;Dels=0.00;FS=0.759;HRun=1;HaplotypeScore=2.4533;MQ=59.17;MQ0=0;MQRankSum=-0.581;QD=12.81;ReadPosRankSum=-0.058;VQSLOD=6.2834;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,52:101:99:1324,0,1395 6 33659472 33659472 C G exonic ITPR3 nonsynonymous SNV ITPR3:NM_002224:exon53:c.C7306G:p.L2436V 0.58 0.22 0.61 0.9 0.49 0.81 0.5678 0.2891 0.6779 0.9131 0.6299 0.4889 0.5653 0.7789 0.41 0.31 0.46 0.5 0.42 rs2229642 . . . . . . . . . . . . . 0.758 0.035 T 0.0 0.026 B 0.002 0.063 B 0.989 0.080 N 1 0.090 P 1.055 0.270 L -2.84 0.913 D 1.04 0.013 N 0.063 0.048 -0.954 0.403 T 0.254 0.624 T . . . -0.262 0.071 0.807 0.212 0.008 0.006 0.025 N c -1.076 -1.034 1.000 0.489 0.722 0.854 0 2.02 0.255 0.687 0.249 -0.239 0.092 0.279 0.249 0.018 0.130 3.562 0.074 Ion transport domain ENSG00000161896.6|ENSG00000096433.6|ENSG00000137288.5|ENSG00000096433.6|ENSG00000096433.6|ENSG00000161896.6|ENSG00000096433.6|ENSG00000137288.5|ENSG00000096433.6|ENSG00000137288.5|ENSG00000096433.6 Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Prostate|Testis|Testis|Thyroid|Whole_Blood 0.5724 0.2853 0.6573 0.4699 0.9182 0.6162 0.4782 0.5237 0.7803 0.4731 0.2969 0.6086 0.4967 0.9265 0.6087 0.4802 0.5678 het 1246.86 91 6 33659472 . C G 1246.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.685;DP=91;Dels=0.00;FS=0.844;HRun=3;HaplotypeScore=5.3560;MQ=58.98;MQ0=0;MQRankSum=0.718;QD=13.70;ReadPosRankSum=-0.053;VQSLOD=4.8321;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:44,45:91:99:1277,0,1277 6 33690796 33690796 C T exonic IP6K3 nonsynonymous SNV IP6K3:NM_054111:exon6:c.G934A:p.V312I,IP6K3:NM_001142883:exon7:c.G934A:p.V312I 0.51 0.1 0.58 0.84 0.47 0.72 0.5258 0.1668 0.6500 0.8642 0.6073 0.4643 0.5353 0.7017 0.35 0.18 0.43 . 0.34 rs4713668 COSM5618521 1(breast) . . . . . . . . . . . 0.045 0.408 D 0.362 0.322 B 0.166 0.334 B 0.001 0.416 N 0.127 0.356 P 1.055 0.270 L 2.25 0.178 T -0.77 0.214 N 0.047 0.028 -1.015 0.253 T 0.017 0.069 T . . . 2.232 0.329 17.72 0.996 0.730 0.891 0.491 D c -0.064 0.042 1.000 0.747 0.526 0.212 0 5.12 0.693 4.083 0.571 0.852 0.362 0.999 0.424 0.373 0.250 11.866 0.516 . ENSG00000161896.6|ENSG00000096433.6|ENSG00000030110.8|ENSG00000096433.6|ENSG00000161896.6|ENSG00000168394.9|ENSG00000137288.5|ENSG00000096433.6|ENSG00000137288.5|ENSG00000096433.6 Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.5339 0.1595 0.6302 0.4546 0.8696 0.5957 0.4542 0.4900 0.7050 0.4148 0.1662 0.5807 0.47 0.8776 0.5928 0.4498 0.5360 het 566.51 38 6 33690796 . C T 566.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.020;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;MQRankSum=-0.979;QD=14.91;ReadPosRankSum=-0.892;VQSLOD=6.4401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:597,0,586 6 33690797 33690797 A G exonic IP6K3 synonymous SNV IP6K3:NM_054111:exon6:c.T933C:p.S311S,IP6K3:NM_001142883:exon7:c.T933C:p.S311S 0.53 0.12 0.59 0.86 0.48 0.77 0.5351 0.1882 0.6598 0.8719 0.6080 0.4669 0.5442 0.7346 0.36 0.2 0.44 0.022 0.34 rs4711341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5429 0.1831 0.6402 0.4558 0.8780 0.5958 0.4569 0.4995 0.7367 0.4236 0.1902 0.5880 0.47 0.8887 0.5931 0.4522 0.5422 het 587.37 39 6 33690797 . A G 587.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.407;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=-0.660;QD=15.06;ReadPosRankSum=-0.576;VQSLOD=6.3063;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,20:39:99:617,0,584 6 33694659 33694659 G A exonic IP6K3 synonymous SNV IP6K3:NM_054111:exon4:c.C438T:p.S146S,IP6K3:NM_001142883:exon5:c.C438T:p.S146S 0.09 0.29 0.032 0.001 0.04 0.0051 0.0500 0.2452 0.0266 0.0002 0.0183 0.0431 0.0336 0.0077 0.11 0.23 0.045 0.098 0.082 rs34252064 COSM4161088 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0450 0.2491 0.0293 0.0765 0.0001 0.0194 0.0415 0.0436 0.0070 0.0922 0.2322 0.0370 0.0894 0 0.0261 0.0426 0.0420 het 1557.77 137 6 33694659 . G A 1557.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.814;DP=137;Dels=0.00;FS=2.286;HRun=0;HaplotypeScore=8.2473;MQ=58.73;MQ0=0;MQRankSum=-0.630;QD=11.37;ReadPosRankSum=1.298;VQSLOD=3.9615;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,56:137:99:1588,0,2128 6 33703230 33703230 G A exonic IP6K3 synonymous SNV IP6K3:NM_054111:exon2:c.C24T:p.D8D,IP6K3:NM_001142883:exon3:c.C24T:p.D8D 0.33 0.72 0.24 0.068 0.33 0.16 0.3044 0.6618 0.1763 0.0704 0.2610 0.3337 0.2809 0.1877 0.46 0.64 0.36 0.45 0.4 rs545787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2897 0.6647 0.1897 0.3126 0.0688 0.2628 0.3369 0.3040 0.1749 0.4044 0.6597 0.2201 0.3543 0.0727 0.2667 0.3418 0.3039 het 626.93 61 6 33703230 . G A 626.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.541;DP=61;Dels=0.00;FS=3.797;HRun=0;HaplotypeScore=3.9032;MQ=59.21;MQ0=0;MQRankSum=1.785;QD=10.28;ReadPosRankSum=-0.422;VQSLOD=5.3328;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,28:61:99:657,0,832 6 33768897 33768897 A G exonic MLN nonsynonymous SNV MLN:NM_001040109:exon2:c.T44C:p.V15A,MLN:NM_001184698:exon2:c.T44C:p.V15A,MLN:NM_002418:exon2:c.T44C:p.V15A 0.63 0.49 0.52 0.86 0.54 0.76 0.6096 0.4985 0.5190 0.8490 0.5759 0.5859 0.6038 0.7271 0.56 0.51 0.58 0.64 0.56 rs2281820 . . . . . . . . . . . . . 0.605 0.062 T 0.0 0.026 B 0.0 0.013 B 0.544 0.053 N 1 0.090 P 0.55 0.145 N 0.71 0.512 T -1.81 0.431 N 0.063 0.054 -1.054 0.133 T 0.027 0.116 T . . . -1.279 0.023 0.005 0.464 0.037 0.005 0.025 N c -1.453 -1.463 0.010 0.119 0.625 0.396 0 -1.12 0.093 -0.577 0.059 -0.231 0.094 0.000 0.063 0.002 0.062 7.218 0.250 . ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000137288.5|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000161904.7|ENSG00000137288.5|ENSG00000161904.7|ENSG00000161896.6|ENSG00000161904.7|ENSG00000137288.5 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid 0.6069 0.5001 0.5328 0.5988 0.8517 0.5584 0.5834 0.5979 0.7284 0.5653 0.5029 0.5585 0.5795 0.8521 0.5498 0.5729 0.5886 het 2874.08 199 6 33768897 . A G 2874.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.302;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4262;MQ=59.19;MQ0=1;MQRankSum=-0.701;QD=14.44;ReadPosRankSum=0.239;VQSLOD=4.2398;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,99:199:99:2904,0,2476 6 34214322 34214322 C G exonic SMIM29 nonsynonymous SNV SMIM29:NM_001287397:exon4:c.G389C:p.G130A,SMIM29:NM_001287398:exon4:c.G389C:p.G130A,SMIM29:NM_001008703:exon5:c.G449C:p.G150A,SMIM29:NM_001008704:exon5:c.G449C:p.G150A,SMIM29:NM_001287396:exon5:c.G449C:p.G150A,SMIM29:NM_178508:exon5:c.G449C:p.G150A 0.77 0.49 0.66 0.86 0.92 0.95 0.8538 0.5554 0.6042 0.8754 0.9483 0.9143 0.8808 0.9472 0.79 0.57 0.9 0.74 0.68 rs1150781 COSM1443927 1(urinary_tract);1(thyroid);1(large_intestine) . . . . . Height . -0.05 21998595 rs1150781 2E-8 1.0 0.010 T 0.123 0.252 B 0.015 0.162 B . . . 1 0.090 P 0 0.065 N 1.03 0.411 T 0.5 0.125 N 0.077 0.068 -0.979 0.353 T 0.011 0.043 T . . . 1.560 0.249 13.63 0.931 0.221 0.029 0.077 N c -1.263 -1.276 1.000 0.747 0.675 0.547 0 0.412 0.155 -0.277 0.085 0.526 0.282 0.000 0.063 0.008 0.104 3.219 0.063 . ENSG00000186577.7|ENSG00000186577.7 Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg 0.8493 0.5396 0.6195 0.8503 0.8803 0.9488 0.9152 0.8666 0.9428 0.8048 0.5469 0.6551 0.8212 0.8946 0.9525 0.9113 0.9165 hom 2190.21 73 6 34214322 . C G 2190.21 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8932;MQ=59.34;MQ0=0;QD=30.00;VQSLOD=8.2658;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:73:99:2223,184,0 6 34803947 34803947 C T exonic UHRF1BP1 synonymous SNV UHRF1BP1:NM_017754:exon8:c.C855T:p.A285A 0.46 0.77 0.31 0.46 0.34 0.28 0.3570 0.6878 0.2375 0.4582 0.3305 0.3339 0.3511 0.2959 0.44 0.66 0.34 0.53 0.34 rs4259246 COSM3761998 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3521 0.7006 0.2557 0.3623 0.4638 0.3339 0.3346 0.3460 0.2959 0.4507 0.7079 0.3046 0.3792 0.5211 0.3296 0.3386 0.3395 het 3044.66 249 6 34803947 . C T 3044.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.999;DP=249;DS;Dels=0.00;FS=2.166;HRun=0;HaplotypeScore=8.8413;MQ=58.99;MQ0=0;MQRankSum=1.907;QD=12.23;ReadPosRankSum=-0.305;VQSLOD=3.5917;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,114:249:99:3075,0,3769 6 34824636 34824636 A G exonic UHRF1BP1 nonsynonymous SNV UHRF1BP1:NM_017754:exon11:c.A1361G:p.Q454R 0.47 0.77 0.31 0.46 0.35 0.29 0.3681 0.6895 0.2406 0.4523 0.3494 0.3469 0.3697 0.3160 0.45 0.66 0.35 0.55 0.37 rs11755393 COSM3762000 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.74 0.040 T 0.0 0.026 B 0.0 0.013 B 0.741 0.098 N 1 0.090 P -0.715 0.018 N 3.14 0.079 T 0.04 0.065 N 0.014 0.014 -0.902 0.478 T 0.003 0.010 T . . . 0.712 0.162 8.907 0.907 0.193 0.221 0.214 N c -0.645 -0.392 0.004 0.103 0.707 0.730 0 5.01 0.663 2.040 0.406 0.138 0.222 0.992 0.373 0.697 0.309 7.367 0.258 . ENSG00000124562.5|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000196821.5|ENSG00000124562.5|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000124562.5|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Thyroid|Thyroid|Uterus|Whole_Blood 0.3642 0.7016 0.2585 0.4329 0.4579 0.3522 0.3449 0.3567 0.3173 0.4585 0.7086 0.3067 0.4205 0.5161 0.3496 0.3485 0.3531 het 1309.85 94 6 34824636 . A G 1309.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.535;DP=94;Dels=0.00;FS=3.851;HRun=1;HaplotypeScore=0.9894;MQ=59.60;MQ0=0;MQRankSum=0.810;QD=13.93;ReadPosRankSum=-0.590;VQSLOD=6.5140;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,49:94:99:1340,0,1184 6 34826921 34826921 G C exonic UHRF1BP1 nonsynonymous SNV UHRF1BP1:NM_017754:exon14:c.G2788C:p.E930Q 0.025 0.0015 0.035 0.005 0.056 0.041 0.0410 0.0069 0.0189 0.0059 0.0434 0.0490 0.0472 0.0609 0.034 0.0084 0.045 0.033 0.016 rs61732793 COSM4161096 1(thyroid) . . . . . . . . . . . 0.302 0.144 T 0.047 0.206 B 0.024 0.190 B 0.680 0.061 N 1 0.090 N 1.905 0.510 L 3.06 0.087 T -0.6 0.181 N 0.01 0.059 -0.916 0.461 T 0.004 0.013 T . . . -0.664 0.047 0.088 0.745 0.104 0.348 0.249 N c -0.797 -0.714 0.139 0.172 0.707 0.730 0 2.5 0.292 1.049 0.298 0.998 0.613 0.001 0.137 0.904 0.383 4.63 0.118 . ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12 Artery_Tibial|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Whole_Blood 0.0395 0.0061 0.0195 0.0437 0.0041 0.0452 0.0487 0.0341 0.0600 0.0313 0.0060 0.0167 0.0364 0.0025 0.0435 0.0469 0.0347 het 862.22 77 6 34826921 . G C 862.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.660;DP=77;Dels=0.00;FS=6.264;HRun=0;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;MQRankSum=-0.732;QD=11.20;ReadPosRankSum=-2.789;VQSLOD=3.2016;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,31:77:99:892,0,1432 6 34831856 34831856 T C exonic UHRF1BP1 nonsynonymous SNV UHRF1BP1:NM_017754:exon15:c.T3293C:p.M1098T 0.14 0.21 0.11 0.13 0.14 0.094 0.1138 0.2039 0.0771 0.1144 0.0590 0.1121 0.11 0.1152 0.14 0.19 0.11 0.22 0.074 rs13205210 . . . . . . . . . . . . . 0.003 0.682 D 0.835 0.443 P 0.42 0.433 B 0.000 0.843 D 0.000 0.513 P 2.695 0.791 M 2.24 0.179 T -4.19 0.756 D 0.286 0.666 -1.091 0.053 T 0.021 0.088 T . . . 5.141 0.693 25.4 0.994 0.608 0.996 0.981 D c 0.376 0.489 1.000 0.747 0.732 0.924 0 6.04 0.980 7.006 0.759 1.061 0.807 1.000 0.715 1.000 0.888 15.147 0.722 . ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000146197.7|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12|ENSG00000065060.12 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Whole_Blood 0.1107 0.2053 0.0809 0.1818 0.1120 0.0591 0.1087 0.1184 0.1163 0.1248 0.2066 0.0776 0.1391 0.1211 0.0566 0.0981 0.0902 het 900.24 100 6 34831856 . T C 900.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.885;DP=100;Dels=0.00;FS=7.273;HRun=0;HaplotypeScore=0.9993;MQ=59.16;MQ0=0;MQRankSum=-0.084;QD=9.00;ReadPosRankSum=-0.823;VQSLOD=4.6878;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,35:100:99:930,0,1736 6 34831866 34831866 G A exonic UHRF1BP1 synonymous SNV UHRF1BP1:NM_017754:exon15:c.G3303A:p.T1101T 0.46 0.77 0.31 0.46 0.34 0.29 0.3614 0.6881 0.2385 0.4532 0.3305 0.3380 0.3611 0.3126 0.44 0.65 0.34 0.52 0.37 rs3734264 COSM3762001 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3571 0.7003 0.2561 0.4294 0.4580 0.3338 0.3356 0.3494 0.3135 0.4512 0.7077 0.3050 0.4106 0.5173 0.3289 0.3394 0.3429 het 1271.26 115 6 34831866 . G A 1271.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.755;DP=115;Dels=0.00;FS=4.281;HRun=0;HaplotypeScore=0.9993;MQ=59.07;MQ0=0;MQRankSum=-0.560;QD=11.05;ReadPosRankSum=-1.862;VQSLOD=5.4675;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,48:115:99:1301,0,1667 6 34949607 34949607 C T exonic ANKS1A synonymous SNV ANKS1A:NM_015245:exon4:c.C576T:p.Y192Y 0.55 0.33 0.71 0.41 0.79 0.64 0.7121 0.4168 0.7822 0.4280 0.8090 0.7871 0.7148 0.6556 0.67 0.44 0.79 0.56 0.78 rs2293242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7180 0.4062 0.7710 0.6736 0.4186 0.8022 0.7934 0.7370 0.6598 0.6640 0.4136 0.7482 0.6921 0.3778 0.8002 0.7967 0.7658 het 2489.11 169 6 34949607 . C T 2489.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.875;DP=169;Dels=0.00;FS=2.074;HRun=0;HaplotypeScore=5.7539;MQ=59.45;MQ0=0;MQRankSum=-0.792;QD=14.73;ReadPosRankSum=1.678;VQSLOD=4.4453;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,92:169:99:2519,0,2069 6 35027927 35027927 T C exonic ANKS1A nonsynonymous SNV ANKS1A:NM_015245:exon13:c.T2081C:p.L694S 0.99 0.96 1. 1. 1. 1. 0.9964 0.9606 0.9981 1 1 1.0000 1 0.9998 0.99 0.96 1. 0.98 0.98 rs820085 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.023 0.266 N 0.999 0.810 P -2.095 0.002 N 1.35 0.346 T 2.2 0.003 N 0.071 0.059 -1.012 0.263 T 0.010 0.039 T . . . 1.263 0.217 12.07 0.347 0.021 0.504 0.284 D c -0.787 -0.483 1.000 0.747 0.626 0.397 0 5.68 0.880 3.818 0.551 0.040 0.155 1.000 0.715 0.994 0.587 13.209 0.591 Sterile alpha motif domain|Sterile alpha motif/pointed domain . . 0.9971 0.9593 0.9980 1 1 1 0.9999 0.9982 0.9999 0.9885 0.9597 0.9988 1 1 1 0.9999 0.9969 hom 831.04 30 6 35027927 . T C 831.04 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9164;MQ=56.66;MQ0=0;QD=27.70;VQSLOD=4.5009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:30:66.21:864,66,0 6 35050506 35050506 G A exonic ANKS1A synonymous SNV ANKS1A:NM_015245:exon18:c.G2748A:p.P916P 0.84 0.76 0.87 0.88 0.84 0.91 0.8571 0.7709 0.9013 0.8978 0.9301 0.8430 0.8642 0.8864 0.82 0.78 0.83 0.76 0.82 rs2177382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8575 0.7734 0.8968 0.6730 0.8988 0.9290 0.8468 0.8335 0.8835 0.8509 0.7766 0.8950 0.7219 0.8907 0.9346 0.8689 0.8745 hom 2221.75 69 6 35050506 . G A 2221.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.979;DP=69;Dels=0.00;FS=3.203;HRun=1;HaplotypeScore=1.9976;MQ=59.39;MQ0=0;MQRankSum=1.481;QD=32.20;ReadPosRankSum=-1.230;VQSLOD=3.6698;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,68:69:99:2255,148,0 6 35260503 35260503 C T exonic ZNF76 synonymous SNV ZNF76:NM_001292032:exon10:c.C1104T:p.H368H,ZNF76:NM_003427:exon10:c.C1104T:p.H368H 0.63 0.27 0.73 0.64 0.81 0.83 0.7616 0.3361 0.8077 0.6644 0.8479 0.8095 0.7743 0.8185 0.65 0.35 0.81 0.52 0.73 rs1557567 COSM150075 1(stomach);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7652 0.3222 0.8001 0.5918 0.6612 0.8457 0.8164 0.7720 0.8154 0.6859 0.3459 0.7919 0.6060 0.6512 0.8546 0.8354 0.8086 hom 2991.38 90 6 35260503 . C T 2991.38 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.16;MQ0=0;QD=33.24;VQSLOD=9.2750;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3024,253,0 6 35260530 35260530 C T exonic ZNF76 synonymous SNV ZNF76:NM_001292032:exon10:c.C1131T:p.S377S,ZNF76:NM_003427:exon10:c.C1131T:p.S377S . . . . . . 0.7613 0.3359 0.8079 0.6635 0.8468 0.8092 0.7743 0.8185 0.65 0.35 0.81 0.59 0.7 rs1557568 COSM4161106 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7651 0.3226 0.8001 0.5916 0.6611 0.8458 0.8163 0.7718 0.8154 0.6857 0.3458 0.7919 0.6060 0.6494 0.8548 0.8351 0.8086 hom 2212.54 72 6 35260530 . C T 2212.54 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9494;MQ=58.02;MQ0=0;QD=30.73;VQSLOD=7.5765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:72:99:2246,190,0 6 35285720 35285720 A C exonic DEF6 nonsynonymous SNV DEF6:NM_022047:exon6:c.A860C:p.N287T 0.91 0.82 0.92 0.99 0.89 0.96 0.9032 0.8259 0.9362 0.9949 0.9047 0.8896 0.9029 0.9349 0.87 0.83 0.89 0.87 0.88 rs2395617 . . . . . . . . . . . . . 0.298 0.146 T 0.0 0.163 B 0.0 0.127 B 0.001 0.434 N 1.000 0.090 P 0.145 0.088 N 2.66 0.126 T -0.57 0.172 N 0.003 0.000 -0.983 0.344 T 0.016 0.066 T . . . 2.086 0.312 16.76 0.944 0.241 0.159 0.189 N c -0.677 -0.528 1.000 0.747 0.726 0.872 0 3.57 0.399 1.719 0.374 -0.587 0.045 0.666 0.281 0.984 0.507 3.846 0.084 PH domain-like|Pleckstrin homology domain ENSG00000124678.13|ENSG00000124678.13|ENSG00000124678.13|ENSG00000124678.13|ENSG00000124678.13|ENSG00000065029.10|ENSG00000023892.9|ENSG00000065029.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Lung|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood|Whole_Blood 0.9022 0.8261 0.9338 0.7788 0.9950 0.9060 0.8907 0.8980 0.9324 0.8889 0.8316 0.9284 0.7848 0.9957 0.9163 0.9026 0.9134 hom 1519.84 52 6 35285720 . A C 1519.84 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56.73;MQ0=0;QD=29.23;VQSLOD=8.4848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1553,117,0 6 35391787 35391787 C T exonic PPARD synonymous SNV PPARD:NM_001171820:exon4:c.C195T:p.N65N,PPARD:NM_001171819:exon5:c.C372T:p.N124N,PPARD:NM_006238:exon6:c.C489T:p.N163N,PPARD:NM_177435:exon6:c.C489T:p.N163N,PPARD:NM_001171818:exon7:c.C489T:p.N163N 0.68 0.4 0.79 0.74 0.77 0.83 0.7539 0.4323 0.8166 0.7197 0.8957 0.7748 0.7676 0.7881 0.65 0.44 0.76 0.53 0.66 rs2076167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7570 0.4308 0.8070 0.5617 0.7143 0.8908 0.7763 0.7476 0.7855 0.7038 0.4419 0.7733 0.5795 0.6887 0.8950 0.8039 0.8245 hom 5540.50 187 6 35391787 . C T 5540.50 Mask AC=2;AF=1.00;AN=2;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1906;MQ=59.65;MQ0=0;QD=29.63;VQSLOD=6.2509;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:187:99:5540,445,0 6 35423662 35423662 A C exonic FANCE synonymous SNV FANCE:NM_021922:exon2:c.A387C:p.P129P 0.78 0.89 0.82 0.71 0.68 0.77 0.7211 0.8694 0.8254 0.6838 0.6955 0.6807 0.7230 0.7478 0.74 0.86 0.67 0.76 0.62 rs4713867 . . Benign|Benign not_specified|Fanconi_anemia RCV000246343.1|RCV000357472.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0015625:ORPHA84:30575002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7210 0.8751 0.8220 0.7366 0.6831 0.6906 0.6734 0.7091 0.7473 0.7433 0.8741 0.7995 0.7417 0.6605 0.6994 0.6843 0.7255 hom 1888.99 63 6 35423662 . A C 1888.99 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=29.98;VQSLOD=8.5392;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1922,159,0 6 35477025 35477025 C G exonic TULP1 nonsynonymous SNV TULP1:NM_001289395:exon7:c.G624C:p.K208N,TULP1:NM_003322:exon8:c.G783C:p.K261N 0.84 0.91 0.88 0.86 0.79 0.73 0.8215 0.8998 0.9117 0.8417 0.7873 0.8123 0.7874 0.7509 0.84 0.89 0.82 0.81 0.78 rs2064318 . . Benign|Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive|Leber_congenital_amaurosis RCV000080090.4|RCV000317728.1|RCV000353881.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN169374|CN239466|C0339527:ORPHA65:193413001 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.018 0.276 N 0.994 0.235 P -2.215 0.001 N -1.34 0.800 T 2.17 0.003 N 0.017 0.218 -1.034 0.192 T 0.039 0.168 T . . . 0.933 0.183 10.27 0.098 0.001 0.034 0.085 N c -1.070 -0.796 0.026 0.137 0.677 0.550 0 3.73 0.418 0.903 0.279 0.136 0.221 1.000 0.715 0.972 0.466 6.580 0.216 . ENSG00000112041.8|ENSG00000228559.1 Heart_Atrial_Appendage|Thyroid 0.8220 0.9033 0.9008 0.7994 0.8393 0.7809 0.8140 0.8170 0.7531 0.8364 0.9005 0.9093 0.7649 0.8404 0.7724 0.8132 0.8012 hom 8593.66 249 6 35477025 . C G 8593.66 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.79;MQ0=0;QD=34.51;VQSLOD=9.6957;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8593,665,0 6 35477032 35477032 A G exonic TULP1 nonsynonymous SNV TULP1:NM_001289395:exon7:c.T617C:p.I206T,TULP1:NM_003322:exon8:c.T776C:p.I259T 0.39 0.34 0.33 0.5 0.36 0.43 0.3843 0.3419 0.3646 0.4880 0.3993 0.3718 0.3521 0.4170 0.37 0.35 0.37 0.28 0.3 rs2064317 COSM150076 1(stomach);2(prostate);2(large_intestine) not provided|Benign|Likely benign|Likely benign not_provided|not_specified|Leber_congenital_amaurosis|Retinitis_Pigmentosa\x2c_Recessive RCV000086077.1|RCV000180234.1|RCV000263443.1|RCV000318574.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen CN221809|CN169374|C0339527:ORPHA65:193413001|CN239466 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.748 0.097 N 1 0.090 P -1.935 0.002 N -1.26 0.792 T 2.08 0.004 N 0.024 0.191 -1.057 0.126 T 0.039 0.167 T . . . -0.890 0.036 0.027 0.128 0.002 0.006 0.028 N c -1.288 -1.111 0.026 0.137 0.677 0.550 0 3.62 0.405 0.854 0.273 -0.200 0.102 0.753 0.289 0.051 0.165 6.426 0.208 . ENSG00000007866.14 Cells_Transformed_fibroblasts 0.3807 0.3485 0.3619 0.2566 0.4907 0.3832 0.3756 0.3595 0.4159 0.3828 0.3526 0.3923 0.2914 0.5225 0.3769 0.3875 0.3920 hom 8693.32 250 6 35477032 . A G 8693.32 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.89;MQ0=0;QD=34.77;VQSLOD=9.7746;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8693,680,0 6 35705892 35705892 T C exonic ARMC12 synonymous SNV ARMC12:NM_001286574:exon2:c.T252C:p.Y84Y,ARMC12:NM_001286576:exon2:c.T252C:p.Y84Y,ARMC12:NM_145028:exon2:c.T333C:p.Y111Y 0.76 0.81 0.85 0.58 0.8 0.77 0.7930 0.7818 0.8502 0.6050 0.8335 0.8137 0.7974 0.7581 0.8 0.78 0.81 0.72 0.76 rs2817041 COSM4161113 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7946 0.7868 0.8471 0.7971 0.5996 0.8423 0.8100 0.8003 0.7588 0.7877 0.7813 0.8246 0.8054 0.5731 0.8355 0.7991 0.8133 hom 4563.70 150 6 35705892 . T C 4563.70 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7046;MQ=59.44;MQ0=0;QD=30.42;VQSLOD=9.0783;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4563,376,0 6 35748931 35748931 T C exonic CLPSL1 nonsynonymous SNV CLPSL1:NM_001010886:exon1:c.T44C:p.F15S,CLPSL1:NM_001348773:exon1:c.T44C:p.F15S 0.3 0.34 0.25 0.29 0.3 0.28 0.2944 0.3439 0.1687 0.2846 0.2492 0.3162 0.2644 0.2898 0.32 0.33 0.32 0.29 0.3 rs34109614 COSM3762003 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.127 0.270 T 0.0 0.026 B 0.0 0.013 B 0.420 0.046 N 1 0.090 P -0.55 0.024 N 1.48 0.317 T 0.22 0.047 N 0.035 0.015 -0.996 0.310 T 0.008 0.029 T . . . -0.793 0.041 0.044 0.685 0.084 0.000 0.001 N c -1.549 -1.567 0.000 0.029 0.403 0.052 0 -0.45 0.116 -0.238 0.089 -1.137 0.017 0.010 0.182 0.007 0.100 2.910 0.053 . . . 0.2893 0.3400 0.1817 0.3192 0.2832 0.2617 0.3176 0.2878 0.2931 0.3026 0.3429 0.2177 0.3444 0.2790 0.2537 0.2997 0.2597 het 2018.46 157 6 35748931 . T C 2018.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.425;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5821;MQ=59.05;MQ0=0;MQRankSum=-1.202;QD=12.86;ReadPosRankSum=0.560;VQSLOD=4.5601;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,78:157:99:2048,0,1996 6 35755658 35755658 A G exonic CLPSL1 synonymous SNV CLPSL1:NM_001010886:exon3:c.A237G:p.Q79Q 0.36 0.33 0.38 0.26 0.43 0.43 0.4016 0.3426 0.3359 0.2590 0.3951 0.4323 0.4144 0.4349 0.38 0.31 0.41 0.33 0.41 rs12211728 COSM5428332 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3987 0.3389 0.3401 0.5004 0.2582 0.3960 0.4271 0.4078 0.4356 0.3869 0.3439 0.3596 0.4967 0.2597 0.3996 0.4215 0.3889 het 1940.25 182 6 35755658 . A G 1940.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.673;DP=182;Dels=0.00;FS=4.492;HRun=0;HaplotypeScore=9.2896;MQ=58.95;MQ0=0;MQRankSum=1.413;QD=10.66;ReadPosRankSum=1.559;VQSLOD=3.1881;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,75:182:99:1970,0,2662 6 35762937 35762937 G A exonic CLPS nonsynonymous SNV CLPS:NM_001252598:exon2:c.C202T:p.R68C,CLPS:NM_001832:exon3:c.C325T:p.R109C,CLPS:NM_001252597:exon4:c.C283T:p.R95C 0.0046 0.0008 0.0043 . 0.0089 0.01 0.0116 0.0010 0.0022 0.0006 0.0174 0.0165 0.0077 0.0086 0.0078 0.0016 0.011 . 0.0082 rs41270082 . . . . . . . . . . . . . 0.003 0.682 D 0.996 0.670 D 0.556 0.476 P 0.058 0.224 N 1 0.090 N 1.955 0.530 M 0.96 0.429 T -4.0 0.740 D 0.065 0.067 -1.032 0.198 T 0.048 0.206 T . . . 4.298 0.576 24.0 0.993 0.577 0.060 0.118 N c -0.785 -0.939 0.066 0.154 0.570 0.322 0 -0.609 0.110 -0.001 0.128 0.138 0.222 0.000 0.063 0.493 0.270 1.160 0.017 . . . 0.0086 0.0011 0.0023 0.0002 0.0003 0.0165 0.0123 0.0084 0.0074 0.0101 0.0011 0.0012 0 0 0.0155 0.0155 0.0144 het 961.86 191 6 35762937 . G A 961.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.073;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3459;MQ=59.68;MQ0=0;MQRankSum=0.461;QD=5.04;ReadPosRankSum=0.696;VQSLOD=3.9406;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:146,44:191:99:992,0,4049 6 35803192 35803192 C A exonic SRPK1 synonymous SNV SRPK1:NM_003137:exon16:c.G1857T:p.S619S 0.29 0.31 0.28 0.16 0.32 0.4 0.3192 0.3115 0.3011 0.1295 0.3467 0.3204 0.3243 0.4177 0.31 0.3 0.31 0.27 . rs1049649 COSM3762005;COSM3762004 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3147 0.3076 0.2968 0.3418 0.1259 0.3454 0.3155 0.3000 0.4126 0.3146 0.3091 0.2959 0.3079 0.1069 0.3523 0.3319 0.3254 het 273.39 20 6 35803192 . C A 273.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.042;DP=20;Dels=0.00;FS=4.285;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.116;QD=13.67;ReadPosRankSum=-0.810;VQSLOD=6.2456;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:303,0,199 6 35960390 35960390 C T exonic SLC26A8 nonsynonymous SNV SLC26A8:NM_001193476:exon6:c.G689A:p.S230N,SLC26A8:NM_052961:exon6:c.G689A:p.S230N 0.089 0.033 0.14 0.051 0.14 0.12 0.1184 0.0413 0.1179 0.0566 0.1249 0.1391 0.1322 0.1127 0.1 0.043 0.13 0.087 0.074 rs17707331 COSM4985946 3(soft_tissue) . . . . . . . . . . . 0.27 0.160 T 0.031 0.188 B 0.027 0.198 B 0.014 0.286 N 0.954 0.588 P 0.885 0.217 L -3.3 0.938 D -0.32 0.123 N 0.021 0.005 -0.713 0.598 T 0.388 0.743 T . . . -0.353 0.065 0.502 0.161 0.004 0.062 0.120 N c -0.691 -0.632 0.000 0.072 0.554 0.246 0 3.26 0.363 -0.156 0.100 0.932 0.445 0.067 0.218 0.555 0.280 4.190 0.098 SLC26A/SulP transporter domain . . 0.1198 0.0381 0.1159 0.2278 0.0553 0.1301 0.1318 0.1297 0.1136 0.1044 0.0463 0.1316 0.2219 0.0667 0.1365 0.1299 0.1207 het 3197 250 6 35960390 . C T 3197 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.190;DP=250;DS;Dels=0.00;FS=1.532;HRun=1;HaplotypeScore=6.8022;MQ=58.73;MQ0=0;MQRankSum=-1.618;QD=12.79;ReadPosRankSum=-2.093;VQSLOD=3.5008;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3227,0,3111 6 35967772 35967772 T C exonic SLC26A8 nonsynonymous SNV SLC26A8:NM_001193476:exon4:c.A442G:p.I148V,SLC26A8:NM_052961:exon4:c.A442G:p.I148V,SLC26A8:NM_138718:exon4:c.A442G:p.I148V 0.1 0.088 0.14 0.051 0.14 0.12 0.1227 0.0877 0.1212 0.0565 0.1250 0.1391 0.1355 0.1130 0.12 0.09 0.13 0.11 0.074 rs17713154 COSM4161116 1(thyroid) . . . . . . . . . . . 0.692 0.073 T 0.619 0.380 P 0.172 0.337 B 0.001 0.422 N 0.316 0.332 P 0.48 0.132 N -2.67 0.903 D -0.34 0.127 N 0.05 0.081 -0.746 0.582 T 0.198 0.554 T . . . 0.880 0.178 9.947 0.830 0.140 0.548 0.295 D c -0.436 -0.294 0.000 0.029 0.554 0.246 0 1.73 0.235 0.845 0.271 1.061 0.807 0.991 0.370 0.998 0.697 6.604 0.218 SLC26A/SulP transporter domain . . 0.1235 0.0834 0.1194 0.2289 0.0556 0.1299 0.1322 0.1328 0.1146 0.1186 0.0947 0.1348 0.2219 0.0666 0.1363 0.1307 0.1232 het 3084.79 247 6 35967772 . T C 3084.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.515;DP=247;DS;Dels=0.00;FS=3.540;HRun=0;HaplotypeScore=11.0460;MQ=59.14;MQ0=0;MQRankSum=2.062;QD=12.49;ReadPosRankSum=-1.684;VQSLOD=3.2452;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,126:247:99:3115,0,3164 6 35980121 35980121 C T exonic SLC26A8 nonsynonymous SNV SLC26A8:NM_001193476:exon3:c.G217A:p.V73M,SLC26A8:NM_052961:exon3:c.G217A:p.V73M,SLC26A8:NM_138718:exon3:c.G217A:p.V73M 0.26 0.47 0.23 0.12 0.24 0.18 0.2386 0.4258 0.1888 0.1068 0.2452 0.2484 0.2291 0.1826 0.3 0.41 0.25 0.35 0.16 rs743923 . . . . . . . . . . . . . 0.946 0.059 T 0.003 0.102 B 0.001 0.040 B 0.401 0.131 N 1 0.090 P -1.795 0.003 N 0.9 0.453 T 0.66 0.027 N 0.068 0.097 -0.973 0.366 T 0.009 0.034 T . . . 0.216 0.115 4.842 0.366 0.024 0.005 0.023 N c -1.222 -1.118 0.567 0.214 0.554 0.283 0 -2.58 0.058 -0.025 0.123 0.154 0.240 0.275 0.249 0.718 0.314 1.985 0.032 . ENSG00000112053.9|ENSG00000112053.9|ENSG00000112053.9 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Thyroid 0.2338 0.4222 0.1879 0.3216 0.1074 0.2445 0.2427 0.2557 0.1810 0.2914 0.4292 0.2213 0.3033 0.1027 0.2521 0.2473 0.2495 het 2199.58 154 6 35980121 . C T 2199.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.150;DP=154;DS;Dels=0.00;FS=4.370;HRun=0;HaplotypeScore=3.2758;MQ=59.46;MQ0=0;MQRankSum=-0.381;QD=14.28;ReadPosRankSum=0.273;VQSLOD=5.4736;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,76:154:99:2230,0,2075 6 36098410 36098410 A C exonic MAPK13 synonymous SNV MAPK13:NM_002754:exon1:c.A51C:p.T17T 0.75 0.81 0.72 0.95 0.64 0.6 0.6900 0.7615 0.7107 0.9662 0.7261 0.6745 0.7018 0.5375 0.69 0.76 0.66 . 0.43 rs1059227 COSM451356;COSM1487700 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);3(thyroid);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6790 0.7509 0.7061 0.6882 0.9650 0.7198 0.6591 0.6889 0.5283 0.7182 0.7709 0.7182 0.6722 0.9652 0.7159 0.6619 0.7229 hom 593.08 24 6 36098410 . A C 593.08 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=24.71;VQSLOD=7.4465;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:48.15:626,48,0 6 36269725 36269725 A G exonic PNPLA1 nonsynonymous SNV PNPLA1:NM_001145716:exon6:c.A605G:p.E202G,PNPLA1:NM_001145717:exon6:c.A863G:p.E288G,PNPLA1:NM_173676:exon6:c.A578G:p.E193G 0.079 0.13 0.035 0.081 0.044 0.069 0.0661 0.1260 0.0510 0.0729 0.0428 0.0658 0.0629 0.0460 0.08 0.12 0.059 0.13 0.057 rs34598813 . . Likely benign Congenital_ichthyosiform_erythroderma RCV000259899.1 Human_Phenotype_Ontology:MedGen HP:0007431:C0079583 . . . . . . 0.002 0.721 D 0.734 0.494 P 0.254 0.496 B 0.340 0.140 N 1 0.090 P 1.75 0.456 L 1.45 0.377 T -2.24 0.564 N 0.084 0.189 -1.105 0.035 T 0.050 0.212 T . . . 2.991 0.420 22.2 0.996 0.734 0.104 0.158 N c -0.354 -0.446 0.512 0.210 0.616 0.392 0 3.02 0.338 1.479 0.348 1.088 0.866 0.018 0.193 0.647 0.298 9.690 0.391 Acyl transferase/acyl hydrolase/lysophospholipase . . 0.0637 0.1242 0.0523 0.0689 0.0739 0.0444 0.0656 0.0545 0.0476 0.0774 0.1196 0.0585 0.0733 0.0727 0.0524 0.0617 0.0562 het 1209.76 93 6 36269725 . A G 1209.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.003;DP=93;Dels=0.00;FS=5.332;HRun=1;HaplotypeScore=5.5984;MQ=59.55;MQ0=0;MQRankSum=0.853;QD=13.01;ReadPosRankSum=-0.467;VQSLOD=4.5983;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,42:93:99:1240,0,1437 6 36270130 36270130 C A exonic PNPLA1 nonsynonymous SNV PNPLA1:NM_001145716:exon6:c.C1010A:p.P337H,PNPLA1:NM_001145717:exon6:c.C1268A:p.P423H,PNPLA1:NM_173676:exon6:c.C983A:p.P328H 0.28 0.17 0.52 0.18 0.4 0.25 0.3893 0.2015 0.5810 0.1879 0.4440 0.4230 0.3672 0.3172 0.36 0.21 0.43 0.33 0.43 rs12199580 COSM4161120;COSM4161118;COSM4161119 1(skin);1(thyroid) Benign|Benign not_specified|Congenital_ichthyosiform_erythroderma RCV000245400.1|RCV000289844.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583 . . . . . . 0.136 0.302 T 0.005 0.202 B 0.005 0.214 B 0.461 0.124 N 1 0.090 P 1.52 0.385 L 1.31 0.356 T -1.41 0.375 N 0.046 0.030 -1.022 0.230 T 0.021 0.089 T . . . 1.946 0.295 15.87 0.948 0.249 0.221 0.214 N c -0.926 -0.940 0.007 0.115 0.526 0.212 0 1.74 0.235 0.183 0.166 -0.021 0.129 0.003 0.159 0.015 0.124 5.312 0.150 . . . 0.3967 0.1946 0.5651 0.3813 0.1876 0.4456 0.4225 0.3950 0.3081 0.3620 0.2082 0.5286 0.4106 0.1850 0.4330 0.4403 0.4151 het 2472.48 176 6 36270130 . C A 2472.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.937;DP=176;Dels=0.00;FS=2.718;HRun=0;HaplotypeScore=5.8443;MQ=59.74;MQ0=0;MQRankSum=0.537;QD=14.05;ReadPosRankSum=0.561;VQSLOD=4.1714;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,88:176:99:2502,0,2619 6 36274153 36274153 C T exonic PNPLA1 nonsynonymous SNV PNPLA1:NM_001145716:exon7:c.C1211T:p.T404M,PNPLA1:NM_001145717:exon7:c.C1469T:p.T490M,PNPLA1:NM_173676:exon7:c.C1184T:p.T395M 0.24 0.32 0.19 0.1 0.26 0.29 0.2631 0.3225 0.1649 0.0798 0.3056 0.2861 0.3016 0.2795 0.3 0.32 0.29 0.22 0.28 rs12197079 COSM3762011;COSM3762010;COSM3762012 1(large_intestine) Benign|Benign not_specified|Congenital_ichthyosiform_erythroderma RCV000249941.1|RCV000394869.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.101 0.025 N 1 0.090 P -0.805 0.016 N 1.89 0.275 T 0.63 0.024 N 0.04 0.020 -1.018 0.244 T 0.011 0.041 T . . . 0.526 0.144 7.628 0.861 0.158 0.001 0.008 N c -1.569 -1.600 0.929 0.269 0.487 0.133 0 -3.36 0.046 -3.407 0.005 0.077 0.185 0.000 0.063 0.053 0.166 6.628 0.219 . . . 0.2586 0.3196 0.1616 0.2458 0.0810 0.3089 0.2909 0.2620 0.2780 0.2932 0.3277 0.1954 0.2567 0.0753 0.3206 0.2968 0.2867 het 1994.02 182 6 36274153 . C T 1994.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.680;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.21;MQ0=0;MQRankSum=-0.609;QD=10.96;ReadPosRankSum=0.121;VQSLOD=6.6799;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,85:182:99:2024,0,2377 6 36275458 36275458 T C exonic PNPLA1 nonsynonymous SNV PNPLA1:NM_001145716:exon8:c.T1306C:p.S436P,PNPLA1:NM_001145717:exon8:c.T1564C:p.S522P,PNPLA1:NM_173676:exon8:c.T1279C:p.S427P 0.65 0.74 0.66 0.61 0.64 0.57 0.6402 0.7289 0.7395 0.5793 0.6793 0.6301 0.6449 0.5712 0.66 0.72 0.63 0.7 0.48 rs4713956 . . Benign|Benign not_specified|Congenital_ichthyosiform_erythroderma RCV000241905.1|RCV000302851.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.829 0.069 N 1 0.090 P -1.78 0.003 N 1.97 0.263 T 0.57 0.026 N 0.051 0.040 -0.949 0.413 T 0.005 0.016 T . . . -1.352 0.021 0.004 0.081 0.001 0.000 0.003 N c -1.555 -1.446 0.610 0.218 0.487 0.133 0 2.53 0.295 0.443 0.212 -1.046 0.020 0.000 0.063 0.000 0.016 2.766 0.050 . . . 0.6386 0.7273 0.7242 0.4338 0.5713 0.6751 0.6411 0.6278 0.5709 0.6686 0.7268 0.6838 0.4536 0.5559 0.6889 0.6472 0.6459 het 1169.77 114 6 36275458 . T C 1169.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.683;DP=114;Dels=0.00;FS=1.542;HRun=1;HaplotypeScore=2.6797;MQ=59.80;MQ0=0;MQRankSum=-1.017;QD=10.26;ReadPosRankSum=0.521;VQSLOD=6.0409;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,48:114:99:1200,0,1735 6 36287312 36287312 G C exonic C6orf222 nonsynonymous SNV C6orf222:NM_001010903:exon11:c.C1744G:p.L582V 0.39 0.37 0.37 0.22 0.56 0.42 0.4756 0.3947 0.3021 0.1915 0.5779 0.5548 0.4868 0.4357 0.5 0.4 0.56 0.4 0.46 rs743852 . . . . . . . . . . . . . 0.008 0.586 D 1.0 0.899 D 0.993 0.797 D 0.002 0.370 N 0.993 0.238 P 1.75 0.456 L 0.02 0.623 T -2.49 0.542 N 0.21 0.258 -0.454 0.703 T 0.289 0.661 T . . . 4.994 0.672 25.1 0.998 0.923 0.286 0.234 N c 0.399 0.297 1.000 0.747 0.487 0.133 0 3.6 0.402 0.876 0.275 0.154 0.240 0.644 0.279 0.640 0.296 7.043 0.241 . . . 0.4690 0.3941 0.3048 0.3367 0.1923 0.5761 0.5691 0.4940 0.4380 0.4984 0.4034 0.3289 0.3709 0.1863 0.5896 0.5761 0.5286 het 1882.20 151 6 36287312 . G C 1882.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.954;DP=151;Dels=0.00;FS=1.386;HRun=0;HaplotypeScore=3.7008;MQ=59.72;MQ0=0;MQRankSum=-0.449;QD=12.46;ReadPosRankSum=-0.579;VQSLOD=5.7574;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,72:151:99:1912,0,2218 6 36294864 36294864 A G exonic C6orf222 synonymous SNV C6orf222:NM_001010903:exon4:c.T735C:p.A245A 0.033 0.0053 0.059 0.004 0.095 0.018 0.0829 0.0225 0.0446 0.0034 0.0944 0.1193 0.0925 0.0374 0.086 0.029 0.12 0.022 0.09 rs41270098 COSM3762013 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0802 0.0214 0.0413 0.0479 0.0030 0.0976 0.1224 0.0868 0.0382 0.0877 0.0252 0.0477 0.0397 0.0012 0.0970 0.1340 0.0918 het 2819.75 242 6 36294864 . A G 2819.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.514;DP=242;DS;Dels=0.00;FS=5.218;HRun=1;HaplotypeScore=2.7914;MQ=59.43;MQ0=0;MQRankSum=1.635;QD=11.65;ReadPosRankSum=0.409;VQSLOD=5.1119;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:131,111:242:99:2850,0,3456 6 36298264 36298264 A G exonic C6orf222 synonymous SNV C6orf222:NM_001010903:exon2:c.T204C:p.A68A 0.0052 0.0015 0.0058 0.002 0.0089 0.0092 0.0106 0.0028 0.0035 0.0007 0.0051 0.0152 0.0011 0.0097 0.011 0.0045 0.015 . 0.016 rs149607586 COSM51011 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0103 0.0022 0.0044 0.0015 0.0005 0.0045 0.0170 0.0069 0.0096 0.0084 0.0032 0.0024 0.0033 0 0.0057 0.0132 0.0102 het 1835.42 122 6 36298264 . A G 1835.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.952;DP=122;Dels=0.00;FS=2.409;HRun=1;HaplotypeScore=3.8560;MQ=59.69;MQ0=0;MQRankSum=0.359;QD=15.04;ReadPosRankSum=0.446;VQSLOD=4.2790;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,63:122:99:1865,0,1686 6 36368276 36368276 C T exonic PXT1 synonymous SNV PXT1:NM_152990:exon4:c.G255A:p.Q85Q 0.01 0.0023 0.02 0.0079 0.023 0.0031 0.0192 0.0041 0.0184 0.0046 0.0378 0.0254 0.0176 0.0045 0.018 0.0061 0.025 0.022 0.025 rs62403732 COSM4004031 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0207 0.0040 0.0197 0.0097 0.0037 0.0399 0.0275 0.0173 0.0049 0.0210 0.0038 0.0167 0.0133 0.0031 0.0341 0.0300 0.0245 het 2653.51 221 6 36368276 . C T 2653.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.063;DP=221;Dels=0.00;FS=1.070;HRun=1;HaplotypeScore=6.7781;MQ=58.75;MQ0=0;MQRankSum=1.404;QD=12.01;ReadPosRankSum=-0.054;VQSLOD=4.2142;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,108:221:99:2684,0,2984 6 36713263 36713263 A G exonic CPNE5 synonymous SNV CPNE5:NM_001314020:exon5:c.T180C:p.C60C,CPNE5:NM_001314018:exon6:c.T354C:p.C118C,CPNE5:NM_001314019:exon7:c.T180C:p.C60C,CPNE5:NM_020939:exon17:c.T1230C:p.C410C 0.8 0.87 0.62 0.84 0.84 0.76 0.8071 0.8713 0.5686 0.8255 0.7968 0.8323 0.8152 0.7886 0.84 0.87 0.82 0.78 0.58 rs763046 COSM4161125 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7823 0.8716 0.5531 0.8110 0.8149 0.7892 0.8306 0.7884 0.7901 0.8298 0.8752 0.5921 0.8179 0.8088 0.7991 0.8285 0.7984 hom 461.90 16 6 36713263 . A G 461.90 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.87;VQSLOD=13.6970;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:495,39,0 6 36733132 36733132 G A exonic CPNE5 synonymous SNV CPNE5:NM_020939:exon11:c.C759T:p.Y253Y 0.54 0.37 0.58 0.62 0.62 0.59 0.6111 0.3836 0.6129 0.6301 0.5950 0.6494 0.5980 0.5955 0.56 0.39 0.65 0.5 0.58 rs763048 COSM3762019 1(pancreas);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6117 0.3742 0.6065 0.5875 0.6278 0.5936 0.6544 0.6029 0.5937 0.5718 0.3841 0.6100 0.5563 0.6258 0.6072 0.6633 0.6010 het 870.71 88 6 36733132 . G A 870.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.659;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5250;MQ=58.62;MQ0=0;MQRankSum=1.430;QD=9.89;ReadPosRankSum=-1.057;VQSLOD=5.8014;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,36:88:99:901,0,1291 6 36930814 36930814 T C exonic PI16 synonymous SNV PI16:NM_153370:exon5:c.T696C:p.T232T,PI16:NM_001199159:exon6:c.T696C:p.T232T 0.069 0.017 0.11 0.005 0.17 0.078 0.1155 0.0395 0.0885 0.0161 0.1226 0.1496 0.1181 0.0933 0.11 0.045 0.15 0.13 0.17 rs41272198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1167 0.0382 0.0906 0.1757 0.0171 0.1182 0.1499 0.1417 0.0952 0.1013 0.0345 0.1050 0.2285 0.0216 0.1173 0.1409 0.1227 het 1874.13 140 6 36930814 . T C 1874.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.319;DP=140;Dels=0.00;FS=2.280;HRun=2;HaplotypeScore=1.7313;MQ=59.67;MQ0=0;MQRankSum=0.868;QD=13.39;ReadPosRankSum=0.505;VQSLOD=6.4331;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,67:140:99:1904,0,1928 6 36931162 36931162 A G exonic PI16 synonymous SNV PI16:NM_153370:exon5:c.A1044G:p.E348E,PI16:NM_001199159:exon6:c.A1044G:p.E348E 0.6 0.63 0.72 0.49 0.61 0.57 0.5943 0.6125 0.7491 0.4857 0.5485 0.5929 0.6197 0.5534 0.6 0.61 0.6 0.7 0.58 rs2296934 COSM1131883 1(prostate);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6020 0.6175 0.7475 0.5814 0.4865 0.5447 0.5977 0.6179 0.5606 0.5906 0.6101 0.7464 0.6026 0.4956 0.5456 0.5912 0.5879 het 1019.45 67 6 36931162 . A G 1019.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.780;DP=67;Dels=0.00;FS=8.849;HRun=0;HaplotypeScore=1.4942;MQ=58.96;MQ0=0;MQRankSum=0.006;QD=15.22;ReadPosRankSum=-1.287;VQSLOD=4.5994;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:1049,0,945 6 37250112 37250112 A G exonic TBC1D22B synonymous SNV TBC1D22B:NM_017772:exon4:c.A573G:p.Q191Q 0.92 0.99 0.91 0.9 0.89 0.91 0.9073 0.9774 0.9451 0.9070 0.8930 0.8878 0.9193 0.9212 0.91 0.97 0.88 0.94 0.85 rs195753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9070 0.9793 0.9454 0.9125 0.9054 0.8883 0.8846 0.9127 0.9222 0.9084 0.9774 0.9212 0.9272 0.8996 0.8840 0.8738 0.9061 hom 1059.80 36 6 37250112 . A G 1059.80 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8064;MQ=56.24;MQ0=0;QD=29.44;VQSLOD=3.2466;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:87.26:1093,87,0 6 37252210 37252210 C T exonic TBC1D22B synonymous SNV TBC1D22B:NM_017772:exon6:c.C771T:p.N257N 0.7 0.57 0.68 0.85 0.66 0.77 0.6821 0.5818 0.6800 0.8554 0.5998 0.6598 0.6824 0.7857 0.63 0.58 0.66 0.69 0.66 rs3818136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6822 0.5782 0.6877 0.6459 0.8534 0.6083 0.6623 0.6741 0.7745 0.6391 0.5818 0.6802 0.7367 0.8484 0.6077 0.6517 0.6564 hom 3975.57 126 6 37252210 . C T 3975.57 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.55;MQ0=0;QD=31.55;VQSLOD=9.2003;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3975,319,0 6 37623566 37623566 C T exonic MDGA1 synonymous SNV MDGA1:NM_153487:exon4:c.G489A:p.P163P 0.64 0.35 0.7 0.83 0.66 0.75 0.6677 0.4008 0.7555 0.8636 0.7497 0.6447 0.6553 0.7202 0.58 0.44 0.64 0.56 . rs3846874 COSM4783613;COSM1444170 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6716 0.3859 0.7448 0.4830 0.8677 0.7538 0.6466 0.6509 0.7183 0.6104 0.4009 0.7064 0.5066 0.8674 0.7415 0.6650 0.6933 het 689.95 63 6 37623566 . C T 689.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.048;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3770;MQ=59.27;MQ0=0;MQRankSum=0.296;QD=10.95;ReadPosRankSum=0.779;VQSLOD=5.4504;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,29:63:99:720,0,948 6 37623626 37623626 C T exonic MDGA1 synonymous SNV MDGA1:NM_153487:exon4:c.G429A:p.V143V 0.14 0.045 0.15 0.16 0.2 0.16 0.1744 0.0753 0.1375 0.1374 0.1419 0.2002 0.1765 0.1844 0.15 0.069 0.19 0.13 . rs13204070 COSM4161135;COSM4161134 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1678 0.0689 0.1354 0.2309 0.1282 0.1353 0.1971 0.1825 0.1694 0.1446 0.0669 0.1456 0.2318 0.1318 0.1542 0.1869 0.1499 het 949.80 75 6 37623626 . C T 949.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.336;DP=75;Dels=0.00;FS=3.151;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;MQRankSum=-0.982;QD=12.66;ReadPosRankSum=-0.218;VQSLOD=6.3957;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:980,0,899 6 37626142 37626142 C T exonic MDGA1 synonymous SNV MDGA1:NM_153487:exon3:c.G261A:p.S87S 0.14 0.045 0.15 0.16 0.2 0.16 0.1673 0.0702 0.1315 0.1323 0.1345 0.1940 0.1730 0.1733 0.15 0.069 0.19 0.13 . rs2273110 COSM4161136;COSM4161137 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1668 0.0685 0.1336 0.2294 0.1272 0.1342 0.1963 0.1799 0.1674 0.1444 0.0669 0.1456 0.2318 0.1309 0.1537 0.1867 0.1490 het 834.99 73 6 37626142 . C T 834.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.371;DP=73;Dels=0.00;FS=8.570;HRun=0;HaplotypeScore=1.4538;MQ=59.68;MQ0=0;MQRankSum=-0.371;QD=11.44;ReadPosRankSum=-2.400;VQSLOD=3.8688;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,33:73:99:865,0,1162 6 38650588 38650588 T A exonic GLO1 synonymous SNV GLO1:NM_006708:exon4:c.A372T:p.G124G 0.23 0.35 0.16 0.23 0.13 0.24 0.1613 0.3121 0.1259 0.2347 0.0862 0.1206 0.1476 0.2476 0.18 0.3 0.12 0.25 0.13 rs1130534 COSM4004033 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1583 0.3166 0.1343 0.2311 0.2371 0.0851 0.1149 0.1482 0.2506 0.1779 0.3118 0.1459 0.1887 0.2611 0.0831 0.1165 0.1544 het 956.19 85 6 38650588 . T A 956.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.449;DP=85;Dels=0.00;FS=6.008;HRun=2;HaplotypeScore=4.2504;MQ=58.84;MQ0=0;MQRankSum=0.191;QD=11.25;ReadPosRankSum=1.892;VQSLOD=4.3174;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,37:85:99:986,0,1260 6 38650628 38650628 T G exonic GLO1 nonsynonymous SNV GLO1:NM_006708:exon4:c.A332C:p.E111A 0.29 0.31 0.38 0.1 0.42 0.24 0.3618 0.3339 0.3403 0.1298 0.3524 0.4278 0.3458 0.2537 0.41 0.35 0.44 0.28 0.42 rs4746 COSM4417164 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Uncertain significance Autism_1 RCV000017412.1 MedGen C1968924 . . . . . . 0.595 0.057 T 0.0 0.026 B 0.002 0.063 B 0.000 0.491 N 0.000 0.511 P 0.665 0.163 N 1.68 0.272 T -2.05 0.470 N 0.107 0.114 -1.049 0.147 T 0.017 0.072 T . . . 2.009 0.302 16.27 0.952 0.259 0.973 0.740 D c -0.326 -0.128 0.309 0.193 0.732 0.924 0 3.5 0.390 4.237 0.582 1.061 0.807 1.000 0.715 0.998 0.697 14.942 0.705 Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase|Glyoxalase/fosfomycin resistance/dioxygenase domain . . 0.3614 0.3301 0.3511 0.3262 0.1297 0.3556 0.4367 0.3776 0.2567 0.3741 0.3287 0.3494 0.3179 0.1374 0.3605 0.4335 0.3484 het 1448.47 114 6 38650628 . T G 1448.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.676;DP=114;Dels=0.00;FS=1.521;HRun=0;HaplotypeScore=0.9789;MQ=59.47;MQ0=0;MQRankSum=1.143;QD=12.71;ReadPosRankSum=0.544;VQSLOD=6.4465;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,61:114:99:1478,0,1139 6 38821025 38821025 C T exonic DNAH8 stopgain DNAH8:NM_001206927:exon41:c.C5635T:p.Q1879X . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 0.307 N 1 0.810 A . . . . . . . . . . . . . . . . . . . . 13.944 0.994 44 0.998 0.893 0.747 0.362 D c 1.037 0.895 0.931 0.270 0.624 0.395 0 5.69 0.883 2.052 0.407 0.935 0.490 1.000 0.715 1.000 0.888 13.067 0.583 Dynein heavy chain\x2c domain-2 . . 4.081e-06 0 0 0 0 0 8.996e-06 0 0 . . . . . . . . het 1051.25 60 6 38821025 . C T 1051.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.498;DP=60;Dels=0.00;FS=10.003;HRun=0;HaplotypeScore=0.5784;MQ=59.38;MQ0=0;MQRankSum=-0.953;QD=17.52;ReadPosRankSum=0.381;VQSLOD=2.2250;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,41:60:99:1081,0,494 6 38951998 38951998 C T exonic DNAH8 nonsynonymous SNV DNAH8:NM_001206927:exon87:c.C12968T:p.T4323M 0.17 0.048 0.12 0.35 0.17 0.2 0.1596 0.0649 0.1043 0.3590 0.2161 0.1443 0.1774 0.1921 0.12 0.067 0.15 0.2 0.18 rs1537232 COSM3762049;COSM3762050 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.992 0.832 D 0.000 0.513 D 0.000 0.504 P 3.18 0.890 M 2.96 0.096 T -4.98 0.821 D 0.354 0.476 -0.850 0.520 T 0.116 0.411 T . . . 7.280 0.948 34 0.999 0.951 0.990 0.894 D c 0.938 0.874 1.000 0.400 0.497 0.185 0 6.02 0.975 7.710 0.835 0.931 0.441 1.000 0.715 0.979 0.486 20.541 0.993 Dynein heavy chain domain . . 0.1593 0.0664 0.1032 0.0809 0.3641 0.2148 0.1454 0.1521 0.1881 0.1501 0.0671 0.1098 0.1060 0.3671 0.2111 0.1617 0.1840 het 1032.94 88 6 38951998 . C T 1032.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.224;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.54;MQ0=0;MQRankSum=-0.121;QD=11.74;ReadPosRankSum=1.082;VQSLOD=6.6936;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,42:88:99:1063,0,1124 6 38957853 38957853 A G exonic DNAH8 synonymous SNV DNAH8:NM_001206927:exon88:c.A13119G:p.L4373L 0.33 0.31 0.34 0.25 0.44 0.3 0.3943 0.3319 0.3301 0.2551 0.4380 0.4502 0.4130 0.3069 0.41 0.33 0.45 0.35 0.39 rs3737094 COSM1180054;COSM1180053 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) Benign not_specified RCV000253170.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3928 0.3235 0.3340 0.3991 0.2528 0.4418 0.4544 0.4222 0.3038 0.4018 0.3321 0.3537 0.4139 0.2568 0.4524 0.4482 0.4082 het 2357.68 156 6 38957853 . A G 2357.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.404;DP=156;Dels=0.00;FS=3.927;HRun=0;HaplotypeScore=4.2555;MQ=59.57;MQ0=0;MQRankSum=0.282;QD=15.11;ReadPosRankSum=-1.092;VQSLOD=5.2621;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,87:156:99:2388,0,1741 6 39033593 39033593 G A exonic GLP1R synonymous SNV GLP1R:NM_002062:exon4:c.G390A:p.K130K 0.11 0.028 0.094 0.21 0.094 0.17 0.1219 0.0394 0.1466 0.2438 0.1468 0.0981 0.1570 0.1737 0.062 0.033 0.077 0.2 0.13 rs3765468 COSM3762053 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0940 0.0287 0.0921 0.0668 0.2058 0.1039 0.0727 0.0909 0.1448 0.0763 0.0260 0.0895 0.0828 0.2068 0.1030 0.0833 0.0953 hom 313.17 11 6 39033593 . G A 313.17 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.47;VQSLOD=13.3650;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:346,27,0 6 39033602 39033602 A G exonic GLP1R synonymous SNV GLP1R:NM_002062:exon4:c.A399G:p.E133E 0.99 1. 0.99 1. 0.99 0.97 0.9885 0.9982 0.9945 0.9998 0.9947 0.9878 0.9912 0.9726 0.99 1. 0.99 1. 0.9 rs6918287 COSM4161142 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9892 0.9986 0.9941 0.9842 0.9998 0.9949 0.9887 0.9901 0.9723 0.9922 0.9977 0.9952 0.9768 1 0.9917 0.9886 0.9898 hom 313.97 10 6 39033602 . A G 313.97 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.40;VQSLOD=13.7816;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:347,27,0 6 39040654 39040654 A C exonic GLP1R synonymous SNV GLP1R:NM_002062:exon6:c.A526C:p.R176R 0.45 0.31 0.54 0.44 0.52 0.48 0.4870 0.3406 0.5527 0.4430 0.4693 0.5091 0.5 0.4731 0.46 0.35 0.52 0.47 0.56 rs2235868 COSM150087 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4912 0.3371 0.5465 0.4369 0.4547 0.4658 0.5174 0.4847 0.4701 0.4565 0.3346 0.5095 0.4139 0.4535 0.4556 0.5241 0.4826 hom 4230.49 141 6 39040654 . A C 4230.49 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.569;DP=141;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.4163;MQ=59.57;MQ0=0;MQRankSum=1.658;QD=30.00;ReadPosRankSum=-0.025;VQSLOD=8.2269;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,139:141:99:4191,304,0 6 39041502 39041502 A C exonic GLP1R nonsynonymous SNV GLP1R:NM_002062:exon7:c.A780C:p.L260F 0.58 0.59 0.59 0.55 0.56 0.6 0.5638 0.5809 0.6238 0.5565 0.5490 0.5495 0.5892 0.5767 0.57 0.58 0.56 0.69 0.58 rs1042044 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.006 0.112 B 0.000 0.504 N 1.000 0.090 P -1.47 0.005 N 1.0 0.414 T 3.42 0.001 N 0.086 0.081 -0.946 0.417 T 0.007 0.026 T . . . -0.005 0.093 2.541 0.080 0.001 0.230 0.217 N c -0.975 -0.700 0.937 0.272 0.615 0.372 0 3.88 0.438 0.656 0.245 0.067 0.174 0.998 0.411 0.481 0.268 6.368 0.205 GPCR\x2c family 2-like . . 0.5642 0.5804 0.6137 0.4606 0.5633 0.5481 0.5569 0.5489 0.5767 0.5637 0.5692 0.5766 0.4467 0.5729 0.5367 0.5675 0.5633 hom 7416.89 233 6 39041502 . A C 7416.89 Mask AC=2;AF=1.00;AN=2;DP=233;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4091;MQ=59.34;MQ0=0;QD=31.83;VQSLOD=8.7401;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,233:233:99:7416,581,0 6 39048491 39048491 A C exonic GLP1R synonymous SNV GLP1R:NM_002062:exon12:c.A1200C:p.I400I 0.49 0.49 0.54 0.46 0.5 0.48 0.4997 0.5133 0.5679 0.4533 0.4792 0.4962 0.5132 0.4894 0.51 0.52 0.51 0.53 0.54 rs1126476 COSM5461087 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4967 0.5082 0.5550 0.4276 0.4582 0.4749 0.5001 0.4794 0.4805 0.5025 0.5030 0.5335 0.4106 0.4776 0.4596 0.5157 0.4928 hom 2360.47 75 6 39048491 . A C 2360.47 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.36;MQ0=0;QD=31.47;VQSLOD=9.4633;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2393,187,0 6 39851818 39851818 G A exonic DAAM2 synonymous SNV DAAM2:NM_001201427:exon15:c.G1926A:p.K642K,DAAM2:NM_015345:exon15:c.G1926A:p.K642K 0.6 0.46 0.55 0.75 0.58 0.7 0.6112 0.4871 0.5879 0.7872 0.6891 0.5832 0.6189 0.6870 0.55 0.5 0.57 0.58 . rs3003929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5999 0.4702 0.5709 0.5865 0.7835 0.6650 0.5654 0.5829 0.6776 0.5566 0.4712 0.5957 0.5960 0.8170 0.6793 0.5441 0.5918 het 640.48 46 6 39851818 . G A 640.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.383;DP=46;Dels=0.00;FS=1.212;HRun=4;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.045;QD=13.92;ReadPosRankSum=-0.022;VQSLOD=6.5351;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,27:46:99:670,0,541 6 39859415 39859415 A G exonic DAAM2 nonsynonymous SNV DAAM2:NM_001201427:exon19:c.A2258G:p.D753G,DAAM2:NM_015345:exon19:c.A2258G:p.D753G 0.0002 . . . 0.001 . 0.0017 0.0008 0 0 0.0009 0.0028 0 0 0.0014 0.0005 0.0019 . . rs200287086 . . . . . . . . . . . . . 0.481 0.091 T 0.113 0.453 B 0.1 0.518 B 0.000 0.843 D 1.000 0.487 D 1.69 0.435 L -0.02 0.629 T -2.43 0.532 N 0.61 0.660 -0.684 0.612 T 0.246 0.615 T 0.063 0.691 D 3.913 0.527 23.5 0.992 0.560 0.974 0.741 D c 0.332 0.395 1.000 0.747 0.615 0.372 0 5.41 0.782 7.233 0.774 1.199 0.960 1.000 0.715 0.970 0.461 14.566 0.676 Formin\x2c FH2 domain . . 0.0012 0.0005 9.04e-05 0.0002 0 0.0003 0.0025 0.0006 0 0.0014 0.0006 0 0 0 0.0006 0.0023 0.0010 het 451.79 44 6 39859415 . A G 451.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.893;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.72;MQ0=0;MQRankSum=1.229;QD=10.27;ReadPosRankSum=0.844;VQSLOD=4.6778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,17:44:99:482,0,667 6 39864730 39864730 C T exonic DAAM2 synonymous SNV DAAM2:NM_001201427:exon20:c.C2484T:p.I828I,DAAM2:NM_015345:exon20:c.C2484T:p.I828I 0.46 0.42 0.48 0.32 0.53 0.58 0.5142 0.4146 0.4940 0.3676 0.5280 0.5303 0.4841 0.5990 0.48 0.4 0.52 0.47 . rs3008815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5132 0.4138 0.5045 0.5518 0.3649 0.5198 0.5263 0.5228 0.5902 0.4769 0.4141 0.5382 0.5333 0.3666 0.5312 0.5050 0.5225 het 827 71 6 39864730 . C T 827 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.802;DP=71;Dels=0.00;FS=2.002;HRun=1;HaplotypeScore=2.5583;MQ=57.98;MQ0=0;MQRankSum=1.320;QD=11.65;ReadPosRankSum=0.674;VQSLOD=5.3750;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,33:71:99:857,0,896 6 39865047 39865047 T C exonic DAAM2 synonymous SNV DAAM2:NM_001201427:exon21:c.T2607C:p.A869A,DAAM2:NM_015345:exon21:c.T2607C:p.A869A 0.76 0.83 0.61 0.87 0.64 0.77 0.6725 0.7836 0.6103 0.8781 0.6902 0.6198 0.6704 0.7489 0.67 0.78 0.61 0.77 . rs3004067 COSM4161159 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6697 0.7848 0.6172 0.6971 0.8829 0.6751 0.6122 0.6541 0.7491 0.6728 0.7775 0.6519 0.6833 0.8932 0.6833 0.5884 0.6415 het 1266.38 119 6 39865047 . T C 1266.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.363;DP=119;Dels=0.00;FS=3.724;HRun=1;HaplotypeScore=2.5085;MQ=60.00;MQ0=0;MQRankSum=-0.381;QD=10.64;ReadPosRankSum=-0.195;VQSLOD=5.9166;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,55:119:99:1296,0,1805 6 40998167 40998167 T C exonic UNC5CL nonsynonymous SNV UNC5CL:NM_173561:exon8:c.A1294G:p.R432G 0.069 0.026 0.091 0.041 0.12 0.09 0.1012 0.0375 0.0802 0.0445 0.0879 0.1212 0.1035 0.1104 0.092 0.04 0.12 0.065 0.12 rs742493 COSM3762062 1(large_intestine) . . . . . . . . . . . 0.534 0.069 T 0.425 0.336 B 0.182 0.343 B 0.001 0.422 D 1 0.090 P -0.695 0.019 N -2.09 0.861 D -1.98 0.457 N 0.227 0.373 -0.958 0.396 T 0.158 0.492 T . . . 2.730 0.389 21.0 0.966 0.297 0.025 0.070 N c -0.915 -0.913 1.000 0.489 0.615 0.372 0 -1.76 0.075 0.534 0.226 -0.315 0.078 0.056 0.214 0.889 0.374 13.492 0.607 Death domain|Death-like domain . . 0.1009 0.0372 0.0824 0.1475 0.0456 0.0945 0.1178 0.0995 0.1122 0.0888 0.0365 0.0800 0.1391 0.0518 0.1050 0.1189 0.0888 het 1776.33 141 6 40998167 . T C 1776.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.718;DP=141;Dels=0.00;FS=6.268;HRun=1;HaplotypeScore=2.4964;MQ=59.20;MQ0=0;MQRankSum=0.518;QD=12.60;ReadPosRankSum=-0.956;VQSLOD=5.2985;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,74:141:99:1806,0,1721 6 41162518 41162518 T C exonic TREML2 nonsynonymous SNV TREML2:NM_024807:exon3:c.A430G:p.S144G 0.31 0.21 0.37 0.36 0.31 0.37 0.3261 0.2264 0.4618 0.3572 0.3829 0.2993 0.3552 0.3649 0.28 0.23 0.3 0.33 0.29 rs3747742 COSM5480739 1(large_intestine) . . . . . . . . . . . 0.218 0.191 T 0.002 0.090 B 0.002 0.063 B 0.145 0.181 N 1 0.090 P 1.54 0.390 L 3.25 0.068 T -1.98 0.457 N 0.014 0.002 -0.976 0.360 T 0.007 0.024 T . . . -1.068 0.029 0.012 0.945 0.244 0.017 0.053 N c -0.959 -1.058 0.168 0.177 0.732 0.924 0 -2.17 0.066 -0.395 0.073 0.144 0.231 0.000 0.063 0.011 0.114 4.490 0.111 . ENSG00000161912.13|ENSG00000161912.13|ENSG00000161912.13|ENSG00000161912.13|ENSG00000161912.13|ENSG00000161912.13|ENSG00000161912.13|ENSG00000161912.13|ENSG00000161912.13|ENSG00000161912.13|ENSG00000001167.10|ENSG00000161912.13|ENSG00000161912.13 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.3317 0.2259 0.4493 0.2808 0.3598 0.3868 0.2991 0.3289 0.3352 0.2981 0.2205 0.4089 0.2384 0.3493 0.3590 0.3166 0.3279 het 1002.41 81 6 41162518 . T C 1002.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.179;DP=81;Dels=0.00;FS=1.892;HRun=1;HaplotypeScore=3.6750;MQ=59.77;MQ0=0;MQRankSum=0.223;QD=12.38;ReadPosRankSum=0.927;VQSLOD=6.0900;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,36:81:99:1032,0,1181 6 41196605 41196605 T C exonic TREML4 nonsynonymous SNV TREML4:NM_198153:exon2:c.T217C:p.W73R 0.69 0.42 0.81 0.84 0.77 0.73 0.7738 0.4777 0.8742 0.8444 0.8010 0.7938 0.7885 0.7605 0.69 0.49 0.79 0.75 0.77 rs9369265 COSM5000369 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.005 0.119 B 0.007 0.121 B . . . 1 0.090 P -1.01 0.011 N 3.78 0.039 T 1.79 0.005 N 0.008 0.000 -0.961 0.389 T 0.001 0.003 T . . . -2.052 0.007 0.001 0.622 0.067 0.006 0.028 N c -1.896 -1.824 1.000 0.747 0.526 0.212 0 -0.497 0.114 -3.488 0.005 -0.838 0.030 0.000 0.063 0.000 0.016 3.993 0.090 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000188056.7|ENSG00000188056.7|ENSG00000188056.7|ENSG00000188056.7|ENSG00000225690.1|ENSG00000184106.4|ENSG00000188056.7|ENSG00000184106.4|ENSG00000225690.1|ENSG00000188056.7|ENSG00000188056.7|ENSG00000225690.1|ENSG00000184106.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Coronary|Lung|Lung|Lung|Nerve_Tibial|Spleen|Spleen|Spleen|Whole_Blood|Whole_Blood|Whole_Blood 0.7813 0.4692 0.8642 0.8062 0.8475 0.7935 0.7907 0.7840 0.7574 0.7164 0.4834 0.8493 0.8179 0.8455 0.7905 0.8061 0.7885 het 1466.22 129 6 41196605 . T C 1466.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.066;DP=129;Dels=0.00;FS=3.203;HRun=3;HaplotypeScore=1.8308;MQ=59.11;MQ0=0;MQRankSum=-0.328;QD=11.37;ReadPosRankSum=0.352;VQSLOD=6.4959;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,53:129:99:1496,0,2132 6 41196727 41196727 C T exonic TREML4 synonymous SNV TREML4:NM_198153:exon2:c.C339T:p.N113N 0.69 0.43 0.81 0.84 0.77 0.73 0.7739 0.4798 0.8741 0.8443 0.8007 0.7937 0.7885 0.7607 0.69 0.49 0.79 0.76 0.78 rs2101269 COSM5765040 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7814 0.4715 0.8641 0.8063 0.8475 0.7934 0.7907 0.7840 0.7574 0.7172 0.4858 0.8496 0.8179 0.8455 0.7901 0.8064 0.7867 het 1441.03 150 6 41196727 . C T 1441.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.274;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9226;MQ=59.10;MQ0=0;MQRankSum=-0.872;QD=9.61;ReadPosRankSum=-0.662;VQSLOD=6.1395;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:89,61:150:99:1471,0,2225 6 41197857 41197857 C T exonic TREML4 nonsynonymous SNV TREML4:NM_198153:exon4:c.C503T:p.T168I 0.69 0.42 0.81 0.84 0.77 0.73 0.7737 0.4776 0.8742 0.8441 0.8007 0.7937 0.7885 0.7602 0.69 0.49 0.79 0.76 0.78 rs7769759 . . . . . . . . . . . . . 0.483 0.081 T 0.009 0.139 B 0.003 0.080 B . . . 1 0.090 P 0.55 0.145 N 3.24 0.069 T -0.95 0.253 N 0.457 0.509 -0.906 0.473 T 0.004 0.012 T . . . -0.290 0.069 0.701 0.890 0.179 0.008 0.031 N c -1.166 -1.242 0.152 0.175 0.497 0.185 0 -2.09 0.068 -0.334 0.079 0.054 0.162 0.002 0.151 0.006 0.095 1.664 0.026 . ENSG00000188056.7|ENSG00000188056.7|ENSG00000188056.7|ENSG00000188056.7|ENSG00000225690.1|ENSG00000184106.4|ENSG00000188056.7|ENSG00000184106.4|ENSG00000225690.1|ENSG00000188056.7|ENSG00000188056.7|ENSG00000225690.1|ENSG00000184106.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Coronary|Lung|Lung|Lung|Nerve_Tibial|Spleen|Spleen|Spleen|Whole_Blood|Whole_Blood|Whole_Blood 0.7813 0.4692 0.8641 0.8061 0.8475 0.7935 0.7907 0.7843 0.7572 0.7165 0.4843 0.8493 0.8179 0.8445 0.7905 0.8060 0.7895 het 2521.41 197 6 41197857 . C T 2521.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.012;DP=197;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=10.1529;MQ=59.30;MQ0=0;MQRankSum=0.577;QD=12.80;ReadPosRankSum=0.091;VQSLOD=4.4194;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,101:197:99:2551,0,2424 6 41250466 41250466 T A exonic TREM1 nonsynonymous SNV TREM1:NM_001242589:exon2:c.A73T:p.T25S,TREM1:NM_001242590:exon2:c.A73T:p.T25S,TREM1:NM_018643:exon2:c.A73T:p.T25S 0.16 0.15 0.13 0.32 0.11 0.12 0.1294 0.1337 0.1737 0.3031 0.1273 0.1002 0.1308 0.1224 0.1 0.12 0.094 0.14 0.049 rs2234237 COSM4985978 3(soft_tissue) . . . . . . . . . . . 0.753 0.036 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P 0.55 0.145 N 2.93 0.114 T -0.13 0.090 N 0.024 0.020 -1.024 0.225 T 0.003 0.010 T . . . -4.325 0.000 0.001 0.068 0.000 0.001 0.006 N c -2.538 -2.666 1.000 0.747 0.554 0.283 0 -7.63 0.011 -5.457 0.001 -2.013 0.005 0.000 0.063 0.000 0.016 2.098 0.034 . . . 0.1294 0.1319 0.1704 0.0929 0.3014 0.1277 0.0962 0.1305 0.1173 0.1299 0.1280 0.1921 0.1026 0.3352 0.1191 0.1076 0.1408 het 1977.07 152 6 41250466 . T A 1977.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.695;DP=152;Dels=0.00;FS=0.614;HRun=0;HaplotypeScore=1.9248;MQ=59.18;MQ0=0;MQRankSum=-0.733;QD=13.01;ReadPosRankSum=0.326;VQSLOD=5.8067;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,80:152:99:2007,0,1782 6 41303993 41303993 C T exonic NCR2 nonsynonymous SNV NCR2:NM_001199509:exon2:c.C221T:p.T74M,NCR2:NM_001199510:exon2:c.C221T:p.T74M,NCR2:NM_004828:exon2:c.C221T:p.T74M 0.0004 . . 0.001 . 0.001 0.0005 0 0.0010 0.0002 0 0.0008 0 6.056e-05 0.0004 0.0002 0.0005 . . rs61733061 . . . . . . . . . . . . . 0.158 0.323 T 0.925 0.622 P 0.311 0.517 B . . . 1 0.090 N 1.01 0.254 L -0.26 0.672 T -2.37 0.532 N 0.145 0.189 -1.040 0.174 T 0.096 0.361 T 0.017 0.382 T 3.460 0.474 23.0 0.993 0.579 0.008 0.033 N c -0.734 -0.945 1.000 0.427 0.616 0.392 0 -2.13 0.067 -2.130 0.014 0.036 0.152 0.000 0.063 0.000 0.016 1.826 0.029 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.0006 0 0.0009 0.0067 5.799e-05 0 0.0004 0.0020 9.746e-05 0.0002 0 0.0012 0.0033 0 0 0.0003 0 het 1024.57 70 6 41303993 . C T 1024.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.722;DP=70;Dels=0.00;FS=3.254;HRun=0;HaplotypeScore=4.3000;MQ=59.40;MQ0=0;MQRankSum=-0.546;QD=14.64;ReadPosRankSum=0.182;VQSLOD=4.7869;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,36:70:99:1055,0,965 6 41318438 41318438 A G exonic NCR2 nonsynonymous SNV NCR2:NM_004828:exon5:c.A667G:p.M223V 0.73 0.49 0.87 0.86 0.77 0.75 0.7589 0.5349 0.8715 0.8487 0.7330 0.7601 0.7720 0.7789 0.7 0.55 0.77 0.66 0.73 rs2273962 . . . . . . . . . . . . . 0.978 0.020 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . 2.72 0.120 T 0.22 0.047 N 0.035 0.015 -0.912 0.466 T 0.004 0.012 T . . . -1.260 0.023 0.005 0.521 0.046 0.006 0.027 N c -1.418 -1.495 0.014 0.126 0.516 0.203 0 0.251 0.147 -0.040 0.120 -1.112 0.018 0.000 0.063 0.002 0.062 4.499 0.112 . . . 0.7694 0.5330 0.8626 0.7724 0.8478 0.7372 0.7644 0.7837 0.7791 0.6948 0.5435 0.8525 0.8046 0.8354 0.7385 0.7439 0.7306 hom 5454.04 176 6 41318438 . A G 5454.04 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6918;MQ=58.95;MQ0=0;QD=30.99;VQSLOD=8.9513;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5453,433,0 6 41652604 41652604 T C exonic TFEB synonymous SNV TFEB:NM_001271943:exon8:c.A909G:p.P303P,TFEB:NM_001167827:exon9:c.A1206G:p.P402P,TFEB:NM_001271944:exon9:c.A1164G:p.P388P,TFEB:NM_001271945:exon9:c.A1164G:p.P388P,TFEB:NM_007162:exon10:c.A1164G:p.P388P 0.76 0.85 0.67 0.78 0.7 0.76 0.7379 0.8325 0.6472 0.7728 0.7798 0.7295 0.7449 0.7444 0.76 0.83 0.72 0.76 0.3 rs1062966 COSM451444 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7319 0.8281 0.6568 0.6886 0.7768 0.7710 0.7255 0.7378 0.7389 0.7603 0.8234 0.6623 0.6788 0.7960 0.7757 0.7261 0.7160 hom 553.06 22 6 41652604 . T C 553.06 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.20;MQ0=0;QD=25.14;VQSLOD=8.1242;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:51.12:586,51,0 6 41658566 41658566 C T exonic TFEB synonymous SNV TFEB:NM_001167827:exon3:c.G345A:p.G115G,TFEB:NM_001271944:exon3:c.G303A:p.G101G,TFEB:NM_001271945:exon3:c.G303A:p.G101G,TFEB:NM_007162:exon4:c.G303A:p.G101G 0.11 0.059 0.085 0.15 0.15 0.11 0.1385 0.0797 0.0848 0.1352 0.2074 0.1546 0.1459 0.1222 0.12 0.087 0.14 0.076 0.13 rs2273068 COSM3762074 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1365 0.0801 0.0979 0.1636 0.1313 0.1981 0.1458 0.1554 0.1205 0.1315 0.0829 0.1100 0.1689 0.1106 0.2006 0.1436 0.1724 het 543.59 58 6 41658566 . C T 543.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.902;DP=58;Dels=0.00;FS=2.245;HRun=2;HaplotypeScore=0.9993;MQ=59.36;MQ0=0;MQRankSum=0.624;QD=9.37;ReadPosRankSum=-0.371;VQSLOD=6.6635;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,24:58:99:574,0,1033 6 41658889 41658889 C T exonic TFEB synonymous SNV TFEB:NM_001167827:exon2:c.G105A:p.Q35Q,TFEB:NM_001271943:exon2:c.G63A:p.Q21Q,TFEB:NM_001271944:exon2:c.G63A:p.Q21Q,TFEB:NM_001271945:exon2:c.G63A:p.Q21Q,TFEB:NM_007162:exon3:c.G63A:p.Q21Q 0.46 0.57 0.45 0.44 0.47 0.34 0.5245 0.5935 0.5113 0.4705 0.6201 0.5528 0.5202 0.4029 0.51 0.56 0.48 0.18 0.3 rs1015149 COSM1568356 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4599 0.5503 0.4331 0.5061 0.3978 0.5339 0.4746 0.4861 0.3658 0.4989 0.5516 0.4243 0.5298 0.3699 0.5381 0.4776 0.4816 het 346.34 22 6 41658889 . C T 346.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.738;DP=22;Dels=0.00;FS=1.713;HRun=1;HaplotypeScore=1.5775;MQ=60.00;MQ0=0;MQRankSum=1.402;QD=15.74;ReadPosRankSum=-0.534;VQSLOD=6.1188;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:376,0,258 6 41754573 41754573 - CTT exonic PRICKLE4 nonframeshift insertion PRICKLE4:NM_013397:exon8:c.861_862insCTT:p.L288_A289insL 0.61 0.65 0.7 0.54 0.51 0.65 0.5694 0.6517 0.7744 0.5258 0.5041 0.5150 0.5645 0.6472 0.55 0.64 0.51 . . rs76510495 COSM112133;COSM112134 1(ovary);17(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5707 0.6542 0.7516 0.5260 0.5238 0.5021 0.5100 0.5668 0.6386 0.5537 0.6457 0.6823 0.5336 0.5207 0.5112 0.5070 0.5495 het 6797.03 240 6 41754573 . C CCTT 6797.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.180;DP=240;DS;FS=1.038;HRun=0;HaplotypeScore=789.6160;MQ=57.43;MQ0=0;MQRankSum=2.451;QD=28.20;ReadPosRankSum=-0.589;set=variant2 GT:AD:DP:GQ:PL 0/1:129,108:240:99:6797,0,4978 6 41773576 41773576 G C exonic USP49 synonymous SNV USP49:NM_001286554:exon2:c.C1146G:p.L382L,USP49:NM_018561:exon4:c.C1146G:p.L382L 0.55 0.52 0.68 0.54 0.49 0.57 0.5340 0.5369 0.7545 0.5278 0.4885 0.4943 0.5288 0.5591 0.5 0.53 0.48 0.52 0.57 rs2185798 COSM4161174;COSM4161173 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5382 0.5401 0.7332 0.4954 0.5236 0.4865 0.4903 0.5369 0.5574 0.5090 0.5348 0.6603 0.5066 0.5198 0.4951 0.4864 0.5267 het 1373.56 108 6 41773576 . G C 1373.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.402;DP=108;Dels=0.00;FS=5.004;HRun=0;HaplotypeScore=1.8625;MQ=59.05;MQ0=0;MQRankSum=1.636;QD=12.72;ReadPosRankSum=-0.402;VQSLOD=5.3744;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,50:108:99:1404,0,1595 6 41773735 41773735 G A exonic USP49 synonymous SNV USP49:NM_001286554:exon2:c.C987T:p.G329G,USP49:NM_018561:exon4:c.C987T:p.G329G 0.21 0.3 0.16 0.16 0.23 0.15 0.2159 0.2801 0.1248 0.1810 0.2536 0.2381 0.2157 0.1537 0.25 0.28 0.24 0.21 0.22 rs6926173 COSM4161177;COSM4161178 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2105 0.2733 0.1335 0.2222 0.1792 0.2561 0.2344 0.2192 0.1559 0.2436 0.2716 0.1639 0.2185 0.1799 0.2585 0.2372 0.2203 het 1137.90 84 6 41773735 . G A 1137.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.915;DP=84;Dels=0.00;FS=14.464;HRun=2;HaplotypeScore=4.9063;MQ=58.89;MQ0=0;MQRankSum=1.302;QD=13.55;ReadPosRankSum=0.447;VQSLOD=3.7117;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,43:84:99:1168,0,1104 6 41895150 41895150 G A exonic BYSL nonsynonymous SNV BYSL:NM_004053:exon2:c.G307A:p.E103K 0.076 0.0038 0.039 0.15 0.097 0.1 0.1079 0.0146 0.0512 0.1659 0.1699 0.1180 0.1159 0.1098 0.078 0.017 0.11 0.043 0.049 rs2296916 . . . . . . . . . . . . . 0.073 0.348 T 0.856 0.452 P 0.161 0.331 B 0.000 0.629 D 0.000 0.588 P 1.735 0.450 L 1.98 0.219 T -2.49 0.542 N 0.244 0.298 -1.016 0.250 T 0.035 0.149 T . . . 4.268 0.572 23.9 0.999 0.995 0.998 0.997 D c 0.508 0.537 1.000 0.747 0.707 0.730 0 4.62 0.568 9.276 0.949 0.943 0.531 1.000 0.715 0.969 0.458 17.072 0.864 . . . 0.1055 0.0135 0.0515 0.1213 0.1643 0.1644 0.1104 0.1090 0.1109 0.0952 0.0162 0.0788 0.1026 0.1650 0.1706 0.1147 0.1283 het 2159.97 165 6 41895150 . G A 2159.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.562;DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5581;MQ=59.20;MQ0=0;MQRankSum=-0.847;QD=13.09;ReadPosRankSum=0.795;VQSLOD=6.3033;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,87:165:99:2190,0,1956 6 41900406 41900406 C T exonic BYSL nonsynonymous SNV BYSL:NM_004053:exon7:c.C1276T:p.P426S 0.095 0.074 0.045 0.15 0.097 0.1 0.1149 0.0784 0.0548 0.1655 0.1696 0.1191 0.1192 0.1141 0.1 0.083 0.11 0.065 0.041 rs3828855 COSM4004042 1(haematopoietic_and_lymphoid_tissue);5(soft_tissue) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.006 0.112 B 0.000 0.466 D 0.853 0.284 P -1.34 0.007 N 1.13 0.386 T 1.55 0.007 N 0.041 0.021 -0.923 0.452 T 0.009 0.033 T . . . 0.263 0.119 5.324 0.610 0.064 0.696 0.340 D c -0.659 -0.415 1.000 0.473 0.672 0.522 0 4.77 0.603 1.558 0.357 0.934 0.450 0.964 0.336 0.303 0.238 2.074 0.034 . . . 0.1104 0.0768 0.0561 0.1215 0.1644 0.1644 0.1110 0.1114 0.1115 0.1120 0.0749 0.0800 0.1026 0.1646 0.1706 0.1149 0.1324 het 1220.96 150 6 41900406 . C T 1220.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.780;DP=150;Dels=0.00;FS=3.388;HRun=0;HaplotypeScore=3.7925;MQ=59.31;MQ0=0;MQRankSum=-0.420;QD=8.14;ReadPosRankSum=1.526;VQSLOD=4.9398;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:100,50:150:99:1251,0,2783 6 41903782 41903782 A C exonic CCND3 nonsynonymous SNV CCND3:NM_001136125:exon4:c.T559G:p.S187A,CCND3:NM_001136126:exon4:c.T187G:p.S63A,CCND3:NM_001136017:exon5:c.T532G:p.S178A,CCND3:NM_001287427:exon5:c.T625G:p.S209A,CCND3:NM_001287434:exon5:c.T187G:p.S63A,CCND3:NM_001760:exon5:c.T775G:p.S259A 0.59 0.85 0.51 0.5 0.55 0.45 0.5443 0.8015 0.4471 0.5300 0.5457 0.5445 0.5304 0.4553 0.62 0.78 0.55 0.56 0.38 rs1051130 COSM451455 2(urinary_tract);20(soft_tissue);1(pancreas);1(thyroid) . . . . . . . . . . . 0.561 0.077 T 0.0 0.026 B 0.001 0.040 B 0.168 0.174 N 1 0.090 P 0.205 0.094 N 1.93 0.229 T -0.45 0.148 N 0.005 0.000 -0.932 0.439 T 0.010 0.036 T . . . -1.116 0.028 0.009 0.634 0.070 0.172 0.196 N c -1.295 -1.257 1.000 0.747 0.722 0.854 0 0.192 0.143 0.143 0.158 0.038 0.153 0.002 0.151 0.074 0.178 8.226 0.306 Cyclin\x2c C-terminal domain|Cyclin-like;Cyclin\x2c N-terminal|Cyclin-like ENSG00000124641.10|ENSG00000124593.10|ENSG00000124641.10|ENSG00000124593.10|ENSG00000124593.10|ENSG00000124593.10|ENSG00000124641.10|ENSG00000124641.10|ENSG00000124641.10|ENSG00000124593.10|ENSG00000124641.10|ENSG00000124641.10|ENSG00000124641.10|ENSG00000124593.10|ENSG00000124593.10|ENSG00000124641.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5374 0.8061 0.4590 0.5635 0.5297 0.5453 0.5455 0.5328 0.4514 0.6191 0.8028 0.5263 0.5530 0.5374 0.5381 0.5524 0.5277 het 512.85 42 6 41903782 . A C 512.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.326;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.56;MQ0=0;MQRankSum=1.004;QD=12.21;ReadPosRankSum=0.222;VQSLOD=6.1585;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,20:42:99:543,0,542 6 42044945 42044945 G A exonic TAF8 synonymous SNV TAF8:NM_138572:exon8:c.G888A:p.R296R 0.67 0.44 0.73 0.9 0.69 0.7 0.7246 0.4816 0.7761 0.9075 0.7995 0.7246 0.7450 0.7057 0.65 0.5 0.71 0.58 0.65 rs3800286 COSM3762075;COSM3762076 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.003 0.080 B . . . 0.999 0.588 P . . . . . . 0.04 0.065 N . . -1.008 0.276 T 0.023 0.096 T . . . 1.334 0.224 12.44 0.984 0.407 0.187 0.202 N c -1.179 -1.245 0.881 0.256 0.707 0.730 0 -6.41 0.018 -0.516 0.063 -0.428 0.059 0.134 0.232 0.880 0.369 3.128 0.060 . ENSG00000137413.11 Skin_Not_Sun_Exposed_Suprapubic 0.7288 0.4800 0.7702 0.7617 0.9066 0.8027 0.7119 0.7395 0.7028 0.6765 0.4832 0.7428 0.7285 0.9105 0.8053 0.7243 0.7439 hom 1973.22 70 6 42044945 . G A 1973.22 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.431;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5678;MQ=59.73;MQ0=0;MQRankSum=-0.326;QD=28.19;ReadPosRankSum=-1.180;VQSLOD=8.0659;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,69:70:99:2006,152,0 6 42162388 42162388 A G exonic GUCA1B synonymous SNV GUCA1B:NM_002098:exon1:c.T171C:p.Y57Y 0.58 0.2 0.64 0.82 0.64 0.77 0.6375 0.2911 0.7188 0.8502 0.7162 0.6160 0.6619 0.7411 0.51 0.31 0.62 0.6 0.57 rs3749921 COSM3762077 1(breast);1(thyroid);1(large_intestine) Likely benign Retinitis_Pigmentosa\x2c_Dominant RCV000397401.1 MedGen CN239354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6475 0.2918 0.6963 0.5618 0.8552 0.7158 0.6189 0.6494 0.7357 0.5585 0.2910 0.6794 0.58 0.8560 0.7040 0.6353 0.6370 hom 3536.06 117 6 42162388 . A G 3536.06 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4250;MQ=59.40;MQ0=0;QD=30.22;VQSLOD=8.7954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3535,283,0 6 42196127 42196127 C T exonic TRERF1 nonsynonymous SNV TRERF1:NM_001297573:exon18:c.G3619A:p.D1207N,TRERF1:NM_033502:exon18:c.G3559A:p.D1187N 0.017 0.0015 0.04 . 0.055 0.002 0.0376 0.0087 0.0338 0 0.0692 0.0518 0.0486 0.0074 0.038 0.011 0.051 0.011 0.049 rs11751765 . . . . . . . . . . . . . 0.129 0.268 T 0.999 0.764 D 0.964 0.693 D 0.000 0.629 D 0.998 0.442 D 0.805 0.203 L 2.44 0.152 T -1.86 0.435 N 0.035 0.069 -1.096 0.045 T 0.041 0.175 T . . . 4.513 0.604 24.3 0.999 0.935 0.942 0.601 D c 0.157 0.227 1.000 0.747 0.719 0.830 0 4.9 0.635 3.859 0.555 0.059 0.165 1.000 0.715 0.996 0.625 15.028 0.712 Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0401 0.0080 0.0322 0.1189 5.798e-05 0.0669 0.0489 0.0553 0.0076 0.0358 0.0092 0.0310 0.1225 0 0.0690 0.0459 0.0377 het 1911.16 150 6 42196127 . C T 1911.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.260;DP=150;Dels=0.00;FS=0.649;HRun=1;HaplotypeScore=3.5495;MQ=59.34;MQ0=0;MQRankSum=2.098;QD=12.74;ReadPosRankSum=-0.260;VQSLOD=5.8905;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,73:150:99:1941,0,2197 6 42532102 42532102 C T exonic UBR2 synonymous SNV UBR2:NM_001184801:exon1:c.C45T:p.S15S,UBR2:NM_015255:exon1:c.C45T:p.S15S 0.47 0.53 0.42 0.45 0.4 0.5 0.4451 0.5220 0.4254 0.4263 0.4744 0.4292 0.4559 0.4742 0.44 0.5 0.41 0.52 0.28 rs3749897 COSM3762078;COSM3762079 1(lung);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4267 0.5031 0.4031 0.4697 0.4046 0.4430 0.4119 0.4294 0.4544 0.4536 0.5112 0.4411 0.5430 0.4104 0.4535 0.4235 0.4559 het 306.07 21 6 42532102 . C T 306.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DP=21;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=0.039;QD=14.57;ReadPosRankSum=0.270;VQSLOD=6.0647;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,12:21:99:336,0,234 6 42600319 42600319 A G exonic UBR2 synonymous SNV UBR2:NM_015255:exon12:c.A1311G:p.L437L 0.94 0.98 0.92 1. 0.89 0.88 0.9171 0.9614 0.9432 0.9982 0.9022 0.9074 0.8893 0.8758 0.93 0.96 0.91 0.94 0.61 rs5014584 COSM4161198 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9182 0.9637 0.9450 0.8914 0.9980 0.9028 0.9090 0.9060 0.8759 0.9299 0.9624 0.9222 0.9338 0.9981 0.8965 0.9123 0.9206 hom 1254.57 42 6 42600319 . A G 1254.57 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8136;MQ=60.00;MQ0=0;QD=29.87;VQSLOD=8.5325;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1288,102,0 6 42627430 42627430 C T exonic UBR2 synonymous SNV UBR2:NM_015255:exon30:c.C3279T:p.G1093G 0.25 0.2 0.2 0.3 0.3 0.26 0.2762 0.2228 0.1620 0.2884 0.3360 0.3002 0.2774 0.2630 0.26 0.22 0.29 0.27 0.2 rs6916713 COSM3762087 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2690 0.2175 0.1646 0.2986 0.2790 0.3395 0.2917 0.2899 0.2564 0.2852 0.2221 0.2064 0.3742 0.2618 0.3470 0.3110 0.3111 het 587.05 46 6 42627430 . C T 587.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.405;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=1.823;QD=12.76;ReadPosRankSum=-0.176;VQSLOD=5.6238;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,23:46:99:617,0,650 6 42627434 42627434 G A exonic UBR2 nonsynonymous SNV UBR2:NM_015255:exon30:c.G3283A:p.A1095T 0.43 0.5 0.39 0.44 0.39 0.41 0.4078 0.4864 0.3947 0.4113 0.4225 0.3995 0.3998 0.3933 0.42 0.48 0.39 0.47 0.28 rs6917033 COSM3762088 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.395 0.107 T 0.233 0.290 B 0.036 0.216 B 0.004 0.341 N 0.999 0.588 P 1.15 0.294 L 0.98 0.421 T -0.19 0.100 N 0.032 0.012 -1.049 0.147 T 0.026 0.110 T . . . 1.000 0.190 10.66 0.895 0.182 0.685 0.336 D c -0.904 -0.755 0.112 0.167 0.707 0.730 0 2.77 0.315 1.254 0.323 -0.831 0.030 0.874 0.306 0.049 0.163 11.619 0.502 . ENSG00000112619.6|ENSG00000112619.6|ENSG00000112619.6|ENSG00000112619.6|ENSG00000112619.6|ENSG00000112619.6|ENSG00000112619.6|ENSG00000112619.6|ENSG00000112619.6|ENSG00000112619.6|ENSG00000112619.6 Adipose_Visceral_Omentum|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Muscle_Skeletal|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4036 0.4874 0.3911 0.4419 0.4033 0.4275 0.3919 0.4054 0.3880 0.4332 0.4881 0.4173 0.5331 0.3976 0.4367 0.4036 0.4252 het 653.88 45 6 42627434 . G A 653.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.259;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.057;QD=14.53;ReadPosRankSum=0.193;VQSLOD=6.8877;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:684,0,571 6 42666061 42666061 T C exonic PRPH2 nonsynonymous SNV PRPH2:NM_000322:exon3:c.A1013G:p.D338G 0.76 0.7 0.72 0.85 0.8 0.72 0.7790 0.7340 0.7046 0.8602 0.8024 0.7954 0.7528 0.7423 0.78 0.73 0.8 0.75 0.6 rs434102 COSM4161200 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Likely benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_provided|not_specified|Vitelliform_macular_dystrophy|Fundus_albipunctatus|Patterned_dystrophy_of_retinal_pigment_epithelium|Cone-Rod_Dystrophy\x2c_Dominant|Retinitis_Pigmentosa\x2c_Dominant|Choroidal_Dystrophy RCV000127756.4|RCV000153779.4|RCV000277323.1|RCV000280986.1|RCV000316146.1|RCV000338398.1|RCV000373093.1|RCV000388148.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen CN221809|CN169374|CN230163|HP:0030642:CN232049|C1868569:169150:ORPHA63454|CN239348|CN239354|C0730291 . . . . . . 0.249 0.172 T . . . . . . 0.009 0.306 N 0.382 0.327 P . . . 4.07 0.031 T -0.17 0.096 N 0.042 0.022 -0.884 0.495 T 0.007 0.023 T . . . 0.871 0.177 9.896 0.916 0.203 0.530 0.290 D c -0.150 -0.181 1.000 0.517 0.002 0.000 3 4.28 0.500 1.270 0.325 1.061 0.807 0.826 0.298 0.682 0.305 7.600 0.271 . ENSG00000137204.10|ENSG00000112619.6|ENSG00000112619.6 Brain_Hippocampus|Muscle_Skeletal|Thyroid 0.7765 0.7315 0.7137 0.6993 0.8621 0.8015 0.7996 0.7786 0.7423 0.7865 0.7309 0.7100 0.7467 0.8601 0.7925 0.8140 0.7930 hom 3588.12 108 6 42666061 . T C 3588.12 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9987;MQ=58.92;MQ0=0;QD=33.22;VQSLOD=10.1024;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3588,280,0 6 42666145 42666145 C T exonic PRPH2 nonsynonymous SNV PRPH2:NM_000322:exon3:c.G929A:p.R310K 0.94 1. 0.92 1. 0.89 0.88 0.9117 0.9809 0.9337 0.9982 0.9025 0.8960 0.8866 0.8760 0.93 0.98 0.91 0.96 0.85 rs425876 . . Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Patterned_dystrophy_of_retinal_pigment_epithelium|Retinitis_Pigmentosa\x2c_Dominant|Choroidal_Dystrophy|Fundus_albipunctatus|Vitelliform_macular_dystrophy|Cone-Rod_Dystrophy\x2c_Dominant RCV000153780.5|RCV000273176.1|RCV000277056.1|RCV000328116.1|RCV000332083.1|RCV000367746.1|RCV000382760.1 MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen CN169374|C1868569:169150:ORPHA63454|CN239354|C0730291|HP:0030642:CN232049|CN230163|CN239348 . . . . . . 1.0 0.010 T . . . . . . 0.000 0.629 N 1.000 0.090 P . . . 4.33 0.024 T 1.09 0.013 N 0.008 0.000 -0.965 0.382 T 0.002 0.006 T . . . 1.734 0.269 14.60 0.838 0.144 0.205 0.209 N c -0.166 -0.070 1.000 0.747 0.002 0.000 3 5.44 0.793 2.847 0.477 0.154 0.240 1.000 0.715 0.999 0.750 11.402 0.489 . . . 0.9123 0.9833 0.9372 0.8536 0.9980 0.9024 0.8995 0.8959 0.8767 0.9312 0.9791 0.9197 0.9172 0.9981 0.8947 0.9067 0.9122 hom 3610.06 107 6 42666145 . C T 3610.06 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.35;MQ0=0;QD=33.74;VQSLOD=9.8996;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3610,286,0 6 42666164 42666164 G C exonic PRPH2 nonsynonymous SNV PRPH2:NM_000322:exon3:c.C910G:p.Q304E 0.76 0.7 0.73 0.85 0.8 0.72 0.7774 0.7311 0.7061 0.8585 0.7907 0.7944 0.7522 0.7413 0.78 0.73 0.8 0.75 0.75 rs390659 . . Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Fundus_albipunctatus|Vitelliform_macular_dystrophy|Choroidal_Dystrophy|Cone-Rod_Dystrophy\x2c_Dominant|Retinitis_Pigmentosa\x2c_Dominant|Patterned_dystrophy_of_retinal_pigment_epithelium RCV000153781.5|RCV000285041.1|RCV000288514.1|RCV000324837.1|RCV000339530.1|RCV000379504.1|RCV000391586.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet CN169374|HP:0030642:CN232049|CN230163|C0730291|CN239348|CN239354|C1868569:169150:ORPHA63454 . . . . . . 1.0 0.010 T . . . . . . 0.000 0.843 N 0.998 0.226 P . . . 4.3 0.025 T 0.99 0.014 N 0.022 0.005 -1.001 0.296 T 0.003 0.009 T . . . 0.388 0.131 6.510 0.759 0.109 0.153 0.186 N c -0.073 0.010 1.000 0.747 0.002 0.000 3 5.44 0.793 6.122 0.711 0.067 0.174 1.000 0.715 0.288 0.235 16.413 0.835 . ENSG00000137204.10|ENSG00000112619.6|ENSG00000112619.6 Brain_Hippocampus|Muscle_Skeletal|Thyroid 0.7753 0.7312 0.7149 0.6992 0.8610 0.7901 0.7992 0.7773 0.7413 0.7849 0.7302 0.7134 0.7483 0.8581 0.7832 0.8136 0.7908 hom 3573.04 111 6 42666164 . G C 3573.04 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;QD=31.90;VQSLOD=9.0257;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3572,301,0 6 42689755 42689755 A G exonic PRPH2 synonymous SNV PRPH2:NM_000322:exon1:c.T318C:p.V106V 0.58 0.66 0.58 0.56 0.59 0.5 0.5775 0.6563 0.6017 0.5822 0.5714 0.5728 0.5782 0.5296 0.61 0.65 0.58 0.55 0.57 rs7764439 COSM4161201 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Vitelliform_macular_dystrophy|Retinitis_Pigmentosa\x2c_Dominant|Choroidal_Dystrophy|Fundus_albipunctatus|Cone-Rod_Dystrophy\x2c_Dominant|Patterned_dystrophy_of_retinal_pigment_epithelium RCV000078642.6|RCV000279604.1|RCV000283105.1|RCV000319470.1|RCV000334759.1|RCV000374032.1|RCV000377358.1 MedGen|MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen:OMIM:Orphanet CN169374|CN230163|CN239354|C0730291|HP:0030642:CN232049|CN239348|C1868569:169150:ORPHA63454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5774 0.6550 0.6024 0.5219 0.5896 0.5602 0.5779 0.5808 0.5328 0.5886 0.6518 0.5791 0.5099 0.6021 0.5459 0.5651 0.55 hom 3096.92 94 6 42689755 . A G 3096.92 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=32.95;VQSLOD=10.0205;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,93:94:99:3130,250,0 6 42713618 42713618 A G exonic TBCC nonsynonymous SNV TBCC:NM_003192:exon1:c.T194C:p.V65A 1. 1. 0.99 1. 0.99 1. 0.9889 0.9975 0.9931 1 0.9772 0.9846 0.9868 0.9970 0.99 1. 0.99 0.98 0.94 rs2234026 . . . . . . . . . . . . . 0.888 0.025 T 0.0 0.026 B 0.0 0.013 B 0.005 0.335 N 1.000 0.090 P -2.35 0.001 N 2.65 0.127 T 1.46 0.008 N 0.033 0.013 -0.924 0.450 T 0.003 0.009 T . . . -0.187 0.077 1.165 0.755 0.107 0.180 0.199 N c -0.905 -0.637 1.000 0.747 0.733 0.969 0 4.1 0.470 1.862 0.389 0.138 0.222 0.990 0.367 0.991 0.552 9.844 0.400 Tubulin-specific chaperone C\x2c N-terminal . . 0.9881 0.9973 0.9915 0.9826 0.9999 0.9760 0.9847 0.9843 0.9966 0.9881 0.9984 0.9833 0.9834 0.9994 0.9757 0.9846 0.9796 hom 3702.42 108 6 42713618 . A G 3702.42 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=34.28;VQSLOD=9.8094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3702,292,0 6 42891022 42891022 G A exonic PTCRA nonsynonymous SNV PTCRA:NM_001243168:exon2:c.G316A:p.V106I,PTCRA:NM_138296:exon2:c.G316A:p.V106I,PTCRA:NM_001243169:exon3:c.G241A:p.V81I 0.24 0.4 0.21 0.024 0.29 0.22 0.2383 0.3660 0.1501 0.0274 0.1976 0.2642 0.2274 0.2426 0.29 0.35 0.26 0.17 0.2 rs9471966 COSM4161202 3(pancreas);1(thyroid) . . . . . . . . . . . 0.062 0.369 T 0.995 0.657 D 0.894 0.616 P 0.001 0.425 D 0.681 0.588 P 1.935 0.520 L 0.58 0.542 T -0.82 0.227 N 0.104 0.109 -0.864 0.510 T 0.141 0.461 T . . . 5.832 0.799 27.2 0.998 0.921 0.847 0.435 D c 0.534 0.570 1.000 0.747 0.554 0.283 0 4.82 0.615 2.986 0.488 0.953 0.551 1.000 0.715 0.970 0.461 9.602 0.386 Immunoglobulin-like domain;Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000124587.9|ENSG00000221821.2|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000124587.9|ENSG00000146223.10|ENSG00000124587.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2335 0.3630 0.1567 0.3426 0.0286 0.1975 0.2630 0.2619 0.2466 0.2563 0.3521 0.1687 0.3808 0.0253 0.1966 0.2438 0.2261 het 1740.08 144 6 42891022 . G A 1740.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.891;DP=144;Dels=0.00;FS=7.810;HRun=0;HaplotypeScore=11.0433;MQ=58.88;MQ0=0;MQRankSum=0.528;QD=12.08;ReadPosRankSum=1.792;VQSLOD=3.1591;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,69:144:99:1770,0,2053 6 43014298 43014298 T C exonic CUL7 synonymous SNV CUL7:NM_001168370:exon11:c.A2691G:p.Q897Q,CUL7:NM_014780:exon11:c.A2439G:p.Q813Q 0.99 1. 0.98 1. 0.97 0.99 0.9766 0.9946 0.9855 0.9997 0.9924 0.9643 0.9681 0.9907 0.98 0.99 0.97 . 0.98 rs9394939 . . Benign|Benign not_specified|Three_M_syndrome RCV000250730.1|RCV000346815.1 MedGen|MedGen:Orphanet CN169374|CN073943:ORPHA2616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9763 0.9948 0.9844 0.8938 0.9997 0.9921 0.9685 0.9705 0.9895 0.9826 0.9947 0.9833 0.8907 0.9994 0.9934 0.9727 0.9867 hom 2762.35 88 6 43014298 . T C 2762.35 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=31.39;VQSLOD=8.8668;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2795,214,0 6 43014299 43014299 T C exonic CUL7 nonsynonymous SNV CUL7:NM_001168370:exon11:c.A2690G:p.Q897R,CUL7:NM_014780:exon11:c.A2438G:p.Q813R 0.99 1. 0.98 1. 0.97 0.99 0.9766 0.9946 0.9855 0.9997 0.9924 0.9642 0.9681 0.9907 0.98 0.99 0.97 . 0.98 rs9381231 . . Benign|Benign not_specified|Three_M_syndrome RCV000245796.1|RCV000407177.1 MedGen|MedGen:Orphanet CN169374|CN073943:ORPHA2616 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.481 N 1.000 0.182 P -0.455 0.028 N -0.22 0.665 T 0.31 0.040 N 0.03 0.011 -1.003 0.291 T 0.026 0.112 T . . . 0.423 0.135 6.811 0.689 0.085 0.654 0.325 D c -0.897 -0.645 0.295 0.191 0.707 0.730 0 1.63 0.228 1.492 0.350 0.067 0.174 1.000 0.715 0.990 0.544 9.887 0.402 Anaphase-promoting complex\x2c subunit 10/DOC domain|Galactose-binding domain-like;Armadillo-type fold|Galactose-binding domain-like . . 0.9763 0.9948 0.9844 0.8939 0.9997 0.9921 0.9684 0.9704 0.9895 0.9826 0.9947 0.9833 0.8907 0.9994 0.9934 0.9727 0.9867 hom 2550.17 89 6 43014299 . T C 2550.17 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;QD=28.65;VQSLOD=7.4716;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2583,211,0 6 43154091 43154091 C G exonic CUL9 synonymous SNV CUL9:NM_015089:exon4:c.C1149G:p.L383L 1. 1. 1. 1. 1. 1. 0.9991 0.9998 0.9999 1 0.9998 0.9984 1 1 1. 1. 1. 1. 1. rs941849 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 0.9999 0.9999 1 1 0.9998 0.9987 0.9996 1 0.9996 0.9999 1 1 1 1 0.9993 1 hom 6398.86 193 6 43154091 . C G 6398.86 Mask AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6963;MQ=59.64;MQ0=0;QD=33.15;VQSLOD=7.1876;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:6398,491,0 6 43184132 43184132 A C exonic CUL9 nonsynonymous SNV CUL9:NM_015089:exon31:c.A6173C:p.H2058P 0.4 0.73 0.22 0.42 0.17 0.29 0.2609 0.6775 0.2117 0.4143 0.1748 0.1927 0.2241 0.2650 0.36 0.66 0.21 0.52 0.25 rs2273709 COSM1444669 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.192 P -2.015 0.002 N 3.85 0.037 T 2.16 0.003 N 0.095 0.095 -0.933 0.438 T 0.001 0.003 T . . . -0.398 0.062 0.391 0.536 0.049 0.563 0.298 D c -0.875 -0.585 0.999 0.381 0.672 0.522 0 5.7 0.886 2.859 0.478 0.067 0.174 0.996 0.391 0.037 0.154 10.902 0.461 . ENSG00000112667.8|ENSG00000112667.8|ENSG00000112667.8|ENSG00000112667.8|ENSG00000112659.9 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Whole_Blood 0.2508 0.6845 0.2169 0.1714 0.4048 0.1693 0.1978 0.2166 0.2657 0.3375 0.6628 0.2315 0.1755 0.4165 0.1665 0.1962 0.2271 het 1788.64 130 6 43184132 . A C 1788.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.494;DP=130;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4822;MQ=59.36;MQ0=0;MQRankSum=-1.134;QD=13.76;ReadPosRankSum=-1.977;VQSLOD=4.2458;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,66:130:99:1819,0,1767 6 43188940 43188940 C T exonic CUL9 synonymous SNV CUL9:NM_015089:exon34:c.C6633T:p.D2211D 0.21 0.49 0.17 0.018 0.13 0.12 0.1609 0.4725 0.1363 0.0169 0.1136 0.1502 0.1430 0.1211 0.27 0.46 0.17 0.24 0.13 rs6917902 COSM3762095 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1549 0.4750 0.1443 0.1260 0.0148 0.1138 0.1550 0.1457 0.1243 0.2282 0.4619 0.1519 0.11 0.0187 0.1103 0.1544 0.1483 het 1613.47 121 6 43188940 . C T 1613.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.723;DP=121;Dels=0.00;FS=1.523;HRun=0;HaplotypeScore=1.7608;MQ=59.04;MQ0=0;MQRankSum=-0.270;QD=13.33;ReadPosRankSum=1.688;VQSLOD=6.2528;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,63:121:99:1643,0,1456 6 43251118 43251118 C T exonic TTBK1 synonymous SNV TTBK1:NM_032538:exon14:c.C2640T:p.D880D 0.16 0.26 0.1 0.11 0.088 0.16 0.1601 0.3211 0.2074 0.1624 0.1313 0.1266 0.1524 0.1668 0.13 0.22 0.083 0.23 0.033 rs45515398 COSM451520 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1023 0.2349 0.1189 0.0735 0.1095 0.0642 0.0808 0.1011 0.1320 0.1216 0.2367 0.1337 0.0596 0.1059 0.0560 0.0746 0.0887 het 190.51 33 6 43251118 . C T 190.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.788;DP=33;Dels=0.00;FS=1.808;HRun=0;HaplotypeScore=2.7634;MQ=59.43;MQ0=0;MQRankSum=-1.395;QD=5.77;ReadPosRankSum=-0.061;VQSLOD=4.0079;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,9:33:99:221,0,628 6 43270097 43270097 T C exonic SLC22A7 synonymous SNV SLC22A7:NM_006672:exon7:c.T1215C:p.A405A,SLC22A7:NM_153320:exon7:c.T1221C:p.A407A 0.98 0.91 1. 1. 1. 1. 0.9938 0.9334 0.9966 1 1 0.9997 0.9967 0.9999 0.98 0.94 1. 0.94 0.9 rs2651184 COSM3762097;COSM3762098 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9950 0.9333 0.9960 0.9998 1 1 0.9996 0.9969 0.9999 0.9832 0.9416 0.9964 1 1 1 0.9997 0.9980 hom 1431.74 49 6 43270097 . T C 1431.74 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=60.00;MQ0=0;QD=29.22;VQSLOD=8.2591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1465,129,0 6 43270151 43270151 C T exonic SLC22A7 synonymous SNV SLC22A7:NM_006672:exon7:c.C1269T:p.S423S,SLC22A7:NM_153320:exon7:c.C1275T:p.S425S 0.46 0.72 0.38 0.37 0.34 0.4 0.4493 0.7060 0.4979 0.3923 0.4049 0.3944 0.4289 0.4723 0.43 0.66 0.31 0.45 0.12 rs2270860 COSM3723565;COSM3723564 1(thyroid);1(upper_aerodigestive_tract);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3677 0.6918 0.4110 0.3688 0.3097 0.3034 0.3201 0.3744 0.3953 0.4122 0.6706 0.3807 0.3907 0.3093 0.2910 0.3079 0.3485 het 490.64 24 6 43270151 . C T 490.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.272;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=60.00;MQ0=0;MQRankSum=-0.548;QD=20.44;ReadPosRankSum=-0.862;VQSLOD=6.2386;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,17:24:98.28:521,0,98 6 43273604 43273604 A G exonic CRIP3 nonsynonymous SNV CRIP3:NM_206922:exon8:c.T563C:p.I188T 0.42 0.072 0.4 0.62 0.58 0.52 0.5337 0.1414 0.3727 0.6822 0.6482 0.5923 0.5631 0.5189 0.44 0.16 0.59 0.35 0.55 rs2242416 COSM4161225 1(thyroid) . . . . . . . . . . . 0.412 0.101 T 0.093 0.238 B 0.047 0.234 B . . . 0.020 0.810 P . . . -3.03 0.923 D 1.39 0.009 N 0.063 0.048 -0.412 0.717 T 0.428 0.771 T . . . 4.152 0.557 23.8 0.885 0.175 0.855 0.443 D c -0.020 0.169 0.969 0.290 0.732 0.924 0 5.77 0.910 4.929 0.629 1.199 0.960 1.000 0.715 1.000 0.888 14.039 0.640 Zinc finger\x2c LIM-type ENSG00000146215.9|ENSG00000137204.10 Heart_Left_Ventricle|Testis 0.5344 0.1342 0.3721 0.5784 0.6864 0.6544 0.5908 0.5305 0.5202 0.4770 0.1556 0.4079 0.5464 0.6863 0.6544 0.5978 0.5524 het 1411.07 126 6 43273604 . A G 1411.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.338;DP=126;Dels=0.00;FS=2.324;HRun=0;HaplotypeScore=0.8667;MQ=59.06;MQ0=0;MQRankSum=0.120;QD=11.20;ReadPosRankSum=-1.431;VQSLOD=6.3646;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,56:126:99:1441,0,1753 6 43306346 43306346 A G exonic ZNF318 nonsynonymous SNV ZNF318:NM_014345:exon10:c.T5390C:p.V1797A 0.98 0.91 1. 1. 1. 1. 0.9938 0.9334 0.9967 1 1 0.9997 0.9967 0.9999 0.98 0.94 1. 0.95 0.98 rs1459675 . . . . . . . . . . . . . 0.859 0.027 T 0.0 0.026 B 0.0 0.013 B 0.122 0.027 N 1 0.090 P -1.04 0.011 N 2.8 0.111 T 0.04 0.065 N 0.024 0.007 -0.949 0.412 T 0.003 0.011 T . . . -1.628 0.014 0.002 0.502 0.043 0.043 0.097 N c -1.491 -1.510 1.000 0.747 0.706 0.609 0 -4.41 0.033 -0.696 0.052 -0.305 0.080 0.000 0.063 0.000 0.016 1.864 0.030 . . . 0.9951 0.9333 0.9962 0.9998 1 1 0.9996 0.9969 0.9999 0.9832 0.9416 0.9964 1 1 1 0.9997 0.9980 hom 1546.98 45 6 43306346 . A G 1546.98 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.38;VQSLOD=14.2156;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1580,126,0 6 43418328 43418328 G A exonic DLK2 synonymous SNV DLK2:NM_001286655:exon6:c.C990T:p.L330L,DLK2:NM_001286656:exon6:c.C1083T:p.L361L,DLK2:NM_023932:exon6:c.C1101T:p.L367L,DLK2:NM_206539:exon6:c.C1101T:p.L367L 0.02 0.014 0.02 . 0.051 0.019 0.0387 0.0151 0.0177 0.0011 0.0762 0.0494 0.0342 0.0301 0.036 0.013 0.048 0.011 0.049 rs35056042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0357 0.0131 0.0165 0.0329 0.0014 0.0741 0.0468 0.0370 0.0221 0.0416 0.0143 0.0155 0.0397 0.0012 0.0736 0.0557 0.0449 het 412.92 29 6 43418328 . G A 412.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.879;DP=29;Dels=0.00;FS=1.617;HRun=1;HaplotypeScore=0.5784;MQ=59.20;MQ0=0;MQRankSum=-0.512;QD=14.24;ReadPosRankSum=-0.561;VQSLOD=6.2205;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:443,0,294 6 43418528 43418528 C T exonic DLK2 nonsynonymous SNV DLK2:NM_001286655:exon6:c.G790A:p.G264R,DLK2:NM_001286656:exon6:c.G883A:p.G295R,DLK2:NM_023932:exon6:c.G901A:p.G301R,DLK2:NM_206539:exon6:c.G901A:p.G301R 0.02 0.012 0.02 . 0.051 0.019 0.0358 0.0144 0.0173 0.0012 0.0706 0.0468 0.0311 0.0220 0.038 0.013 0.051 0.011 0.057 rs35192247 . . . . . . . . . . . . . 0.128 0.269 T 0.011 0.147 B 0.009 0.133 B 0.003 0.363 N 0.982 0.810 D 0.975 0.246 L -2.55 0.896 D -2.0 0.461 N 0.127 0.528 -0.751 0.579 T 0.290 0.662 T . . . 1.824 0.280 15.13 0.998 0.916 0.925 0.556 D c -0.473 -0.338 0.638 0.220 0.578 0.323 0 3.3 0.368 1.235 0.321 0.935 0.490 0.709 0.285 0.958 0.437 9.114 0.357 . . . 0.0363 0.0133 0.0168 0.0341 0.0014 0.0748 0.0471 0.0373 0.0219 0.0416 0.0143 0.0155 0.0397 0.0012 0.0738 0.0557 0.0449 het 1400.65 123 6 43418528 . C T 1400.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.064;DP=123;Dels=0.00;FS=0.675;HRun=0;HaplotypeScore=5.9487;MQ=58.02;MQ0=0;MQRankSum=0.140;QD=11.39;ReadPosRankSum=2.826;VQSLOD=3.9015;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,56:123:99:1431,0,1913 6 43418691 43418691 G A exonic DLK2 synonymous SNV DLK2:NM_001286655:exon6:c.C627T:p.T209T,DLK2:NM_001286656:exon6:c.C720T:p.T240T,DLK2:NM_023932:exon6:c.C738T:p.T246T,DLK2:NM_206539:exon6:c.C738T:p.T246T 0.28 0.54 0.21 0.08 0.29 0.17 0.2776 0.5018 0.2055 0.1048 0.2464 0.3020 0.25 0.1939 0.38 0.5 0.31 0.3 0.27 rs1214748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2696 0.5089 0.2170 0.2734 0.1102 0.2428 0.3031 0.2726 0.1939 0.3356 0.5034 0.2076 0.2550 0.1093 0.2444 0.2964 0.2765 het 1574.81 135 6 43418691 . G A 1574.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.458;DP=135;Dels=0.00;FS=3.139;HRun=1;HaplotypeScore=2.8591;MQ=58.96;MQ0=0;MQRankSum=-0.069;QD=11.67;ReadPosRankSum=-1.678;VQSLOD=5.7675;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,61:135:99:1605,0,2058 6 43418733 43418733 G A exonic DLK2 synonymous SNV DLK2:NM_001286655:exon6:c.C585T:p.H195H,DLK2:NM_001286656:exon6:c.C678T:p.H226H,DLK2:NM_023932:exon6:c.C696T:p.H232H,DLK2:NM_206539:exon6:c.C696T:p.H232H 0.28 0.54 0.21 0.08 0.29 0.17 0.2775 0.5013 0.2056 0.1047 0.2465 0.3020 0.2489 0.1939 0.38 0.5 0.31 0.3 0.29 rs1214749 COSM4161232 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2696 0.5090 0.2170 0.2731 0.1102 0.2427 0.3032 0.2721 0.1939 0.3358 0.5036 0.2076 0.2550 0.1094 0.2446 0.2968 0.2771 het 1610.15 131 6 43418733 . G A 1610.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.861;DP=131;Dels=0.00;FS=2.268;HRun=0;HaplotypeScore=3.2994;MQ=58.90;MQ0=0;MQRankSum=1.040;QD=12.29;ReadPosRankSum=1.432;VQSLOD=6.0205;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,61:131:99:1640,0,1736 6 43492578 43492578 G A exonic XPO5 synonymous SNV XPO5:NM_020750:exon30:c.C3303T:p.Y1101Y 0.32 0.16 0.3 0.62 0.29 0.3 0.2948 0.1749 0.2976 0.6292 0.3379 0.2666 0.2931 0.2859 0.23 0.17 0.26 0.24 . rs2257082 COSM3762101 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2994 0.1688 0.2997 0.2910 0.6337 0.3351 0.2645 0.2818 0.2828 0.2723 0.1745 0.2983 0.3245 0.6460 0.3242 0.2716 0.3031 het 1205.58 98 6 43492578 . G A 1205.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.259;DP=98;Dels=0.00;FS=6.480;HRun=0;HaplotypeScore=1.8936;MQ=58.55;MQ0=0;MQRankSum=-0.206;QD=12.30;ReadPosRankSum=1.426;VQSLOD=4.9216;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,50:98:99:1236,0,1165 6 43968814 43968814 A G exonic C6orf223 nonsynonymous SNV C6orf223:NM_001171992:exon2:c.A185G:p.Q62R,C6orf223:NM_153246:exon2:c.A142G:p.K48E 0.2 0.23 0.095 0.36 0.07 0.18 0.1231 0.2139 0.1644 0.3667 0.0623 0.0643 0.1200 0.1719 0.11 0.21 0.057 0.21 0.057 rs2295333 COSM5425419;COSM5425418 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.589 0.058 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 1.13 0.386 T 0.24 0.045 N 0.012 0.001 -1.027 0.213 T 0.018 0.075 T . . . 0.056 0.099 3.147 0.722 0.096 0.001 0.005 N c -1.162 -1.287 1.000 0.747 0.658 0.486 0 1.18 0.200 -0.194 0.095 -1.062 0.020 0.000 0.063 0.004 0.083 3.413 0.069 . ENSG00000237686.2 Thyroid 0.1211 0.2107 0.1572 0.1202 0.3644 0.0588 0.0603 0.1050 0.1700 0.1218 0.2063 0.1611 0.1026 0.3747 0.0607 0.0602 0.0876 het 2106.17 172 6 43968814 . A G 2106.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.908;DP=172;Dels=0.00;FS=0.580;HRun=0;HaplotypeScore=1.8606;MQ=59.54;MQ0=0;MQRankSum=-0.320;QD=12.25;ReadPosRankSum=-0.820;VQSLOD=6.6575;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,85:172:99:2136,0,2267 6 44081718 44081718 G A exonic MRPL14 synonymous SNV MRPL14:NM_001318771:exon2:c.C198T:p.F66F,MRPL14:NM_001318767:exon3:c.C300T:p.F100F,MRPL14:NM_001318768:exon3:c.C300T:p.F100F,MRPL14:NM_001318769:exon3:c.C333T:p.F111F,MRPL14:NM_001318770:exon3:c.C459T:p.F153F,MRPL14:NM_032111:exon3:c.C300T:p.F100F 0.67 0.81 0.72 0.79 0.49 0.51 0.5809 0.7725 0.7440 0.8063 0.5269 0.5188 0.5795 0.5001 0.59 0.76 0.5 0.73 0.43 rs6883 COSM3762103 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5818 0.7693 0.7335 0.5362 0.8093 0.5218 0.5131 0.5841 0.5024 0.5967 0.7618 0.7249 0.5199 0.8230 0.5241 0.4922 0.5225 het 3119.01 249 6 44081718 . G A 3119.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.224;DP=249;Dels=0.00;FS=8.369;HRun=2;HaplotypeScore=8.1318;MQ=59.05;MQ0=0;MQRankSum=0.021;QD=12.53;ReadPosRankSum=-1.205;VQSLOD=4.0553;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,114:249:99:3149,0,3377 6 44198362 44198362 T C exonic SLC29A1 nonsynonymous SNV SLC29A1:NM_001304463:exon7:c.T773C:p.I258T,SLC29A1:NM_001304465:exon7:c.T725C:p.I242T,SLC29A1:NM_001304466:exon7:c.T722C:p.I241T,SLC29A1:NM_001078175:exon8:c.T647C:p.I216T,SLC29A1:NM_001078177:exon8:c.T647C:p.I216T,SLC29A1:NM_001304462:exon8:c.T884C:p.I295T 0.008 0.0038 0.0086 . 0.014 0.015 0.0192 0.0041 0.0133 0.0003 0.0207 0.0258 0.0165 0.0152 0.021 0.0041 0.03 . 0.025 rs45573936 . . . . . . . . . . . . . 0.214 0.193 T 0.988 0.604 D 0.828 0.577 P 0.000 0.629 D 0.999 0.451 D 2.015 0.552 M -1.56 0.818 D -2.33 0.516 N 0.127 0.159 0.137 0.848 D 0.566 0.843 D . . . 3.689 0.500 23.3 0.996 0.762 0.964 0.687 D c 0.438 0.374 1.000 0.747 0.707 0.730 0 5.52 0.821 4.499 0.599 0.964 0.580 0.996 0.391 0.566 0.282 14.23 0.653 Major facilitator superfamily domain . . 0.0183 0.0042 0.0130 0.0061 0.0003 0.0239 0.0257 0.0144 0.0147 0.0185 0.0038 0.0072 0.0033 0.0006 0.0267 0.0274 0.0287 het 993.40 106 6 44198362 . T C 993.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.860;DP=106;Dels=0.00;FS=2.740;HRun=1;HaplotypeScore=6.2784;MQ=56.83;MQ0=0;MQRankSum=2.445;QD=9.37;ReadPosRankSum=0.874;VQSLOD=2.9990;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,40:106:99:1023,0,1490 6 44223010 44223010 G T exonic SLC35B2 synonymous SNV SLC35B2:NM_001286519:exon2:c.C333A:p.T111T,SLC35B2:NM_001286513:exon3:c.C453A:p.T151T,SLC35B2:NM_001286517:exon3:c.C417A:p.T139T,SLC35B2:NM_001286509:exon4:c.C717A:p.T239T,SLC35B2:NM_001286510:exon4:c.C717A:p.T239T,SLC35B2:NM_001286511:exon4:c.C585A:p.T195T,SLC35B2:NM_001286512:exon4:c.C585A:p.T195T,SLC35B2:NM_001286520:exon4:c.C333A:p.T111T,SLC35B2:NM_178148:exon4:c.C732A:p.T244T 0.2 0.0076 0.19 0.39 0.2 0.28 0.2153 0.0346 0.3629 0.3570 0.1804 0.1859 0.2179 0.2847 0.14 0.039 0.2 0.24 0.19 rs1875324 COSM3762105 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2228 0.0320 0.3452 0.1396 0.3592 0.1855 0.1906 0.2046 0.2815 0.1556 0.0408 0.3365 0.1093 0.3190 0.1811 0.1882 0.1806 het 752 86 6 44223010 . G T 752 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.115;DP=86;Dels=0.00;FS=9.479;HRun=0;HaplotypeScore=0.9973;MQ=58.80;MQ0=0;MQRankSum=-0.147;QD=8.74;ReadPosRankSum=-0.639;VQSLOD=4.3489;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,32:86:99:782,0,1638 6 44247951 44247951 T G exonic TCTE1 synonymous SNV TCTE1:NM_182539:exon5:c.A1473C:p.I491I 0.88 0.65 0.95 1. 0.96 0.95 0.9454 0.6971 0.9661 0.9997 0.9952 0.9649 0.9515 0.9599 0.88 0.71 0.97 0.83 0.98 rs484757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9516 0.6981 0.9597 0.9290 0.9995 0.9957 0.9671 0.9493 0.9610 0.8999 0.7088 0.9582 0.9106 0.9994 0.9954 0.9712 0.9490 hom 5855.25 187 6 44247951 . T G 5855.25 Mask AC=2;AF=1.00;AN=2;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8675;MQ=59.28;MQ0=0;QD=31.31;VQSLOD=9.0451;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,187:187:99:5855,451,0 6 44250165 44250165 A G exonic TCTE1 synonymous SNV TCTE1:NM_182539:exon4:c.T978C:p.G326G 0.64 0.47 0.81 0.6 0.78 0.65 0.7508 0.5168 0.8392 0.5930 0.7749 0.8018 0.7544 0.7023 0.72 0.53 0.81 0.61 0.75 rs516582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7587 0.5183 0.8342 0.7837 0.5796 0.7722 0.8064 0.7619 0.7048 0.7142 0.5306 0.8206 0.7617 0.5598 0.7735 0.8125 0.7802 hom 4566.20 144 6 44250165 . A G 4566.20 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.611;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2498;MQ=59.71;MQ0=0;MQRankSum=-1.078;QD=31.71;ReadPosRankSum=1.514;VQSLOD=7.9900;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,143:144:99:4541,373,0 6 44253749 44253749 A G exonic TCTE1 synonymous SNV TCTE1:NM_182539:exon3:c.T798C:p.R266R 0.88 0.65 0.94 0.99 0.96 0.95 0.9435 0.6963 0.9593 0.9865 0.9952 0.9646 0.9480 0.9591 0.88 0.71 0.96 0.8 0.92 rs324143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9494 0.6974 0.9530 0.9247 0.9872 0.9957 0.9670 0.9471 0.9602 0.8989 0.7087 0.9535 0.9073 0.9883 0.9954 0.9711 0.9469 hom 3337.57 108 6 44253749 . A G 3337.57 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7650;MQ=59.05;MQ0=0;QD=30.90;VQSLOD=9.2811;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3337,286,0 6 44255459 44255459 G A exonic TCTE1 nonsynonymous SNV TCTE1:NM_182539:exon2:c.C104T:p.P35L 0.64 0.48 0.81 0.6 0.78 0.66 0.7517 0.5283 0.8398 0.5928 0.7747 0.8017 0.7533 0.7023 0.72 0.55 0.81 0.62 0.84 rs324146 . . . . . . . . . . . . . 0.048 0.400 D 0.0 0.026 B 0.001 0.040 B 0.841 0.070 N 1 0.090 P 2.19 0.618 M 2.11 0.199 T -0.48 0.154 N 0.041 0.021 -0.971 0.371 T 0.020 0.083 T . . . 0.657 0.157 8.545 0.944 0.242 0.048 0.104 N c -0.809 -0.873 0.001 0.074 0.554 0.283 0 0.555 0.164 -0.262 0.086 0.108 0.203 0.000 0.063 0.017 0.128 3.526 0.073 . . . 0.7595 0.5308 0.8349 0.7835 0.5797 0.7720 0.8063 0.7626 0.7049 0.7179 0.5421 0.8222 0.7583 0.5609 0.7747 0.8130 0.7786 hom 3491.29 104 6 44255459 . G A 3491.29 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=58.75;MQ0=0;QD=33.57;VQSLOD=10.0250;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3491,280,0 6 44268371 44268371 T C exonic AARS2 synonymous SNV AARS2:NM_020745:exon22:c.A2871G:p.S957S 0.87 0.6 0.95 1. 0.96 0.95 0.9426 0.6632 0.9656 0.9982 0.9952 0.9653 0.9491 0.9600 0.87 0.69 0.97 0.8 0.94 rs325008 COSM4161250 1(thyroid) Benign\x2cBenign not_specified\x2cCombined_oxidative_phosphorylation_deficiency RCV000123419.1\x2cRCV000307106.1 MedGen\x2cMedGen:Orphanet CN169374\x2cCN201731:ORPHA2443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9493 0.6624 0.9584 0.9319 0.9985 0.9957 0.9674 0.9484 0.9610 0.8912 0.6787 0.9606 0.9139 0.9975 0.9954 0.9709 0.9469 hom 3432.13 114 6 44268371 . T C 3432.13 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.39;MQ0=0;QD=30.11;VQSLOD=9.0838;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3431,307,0 6 44269193 44269193 C T exonic AARS2 synonymous SNV AARS2:NM_020745:exon20:c.G2607A:p.K869K 0.58 0.46 0.77 0.43 0.73 0.63 0.7015 0.4991 0.7983 0.4183 0.7011 0.7592 0.7031 0.6756 0.68 0.51 0.76 0.54 0.78 rs498512 COSM4161251 1(thyroid) Benign Combined_oxidative_phosphorylation_deficiency RCV000263620.1 MedGen:Orphanet CN201731:ORPHA2443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7079 0.4980 0.7916 0.7643 0.4108 0.6986 0.7618 0.7169 0.6786 0.6673 0.5090 0.7823 0.7351 0.4097 0.7069 0.7661 0.7284 hom 5885.33 191 6 44269193 . C T 5885.33 Mask AC=2;AF=1.00;AN=2;DP=191;DS;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.5176;MQ=58.64;MQ0=0;QD=30.81;VQSLOD=7.8247;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,190:191:99:5885,457,0 6 44275011 44275011 T C exonic AARS2 nonsynonymous SNV AARS2:NM_020745:exon6:c.A1015G:p.I339V 0.89 0.67 0.95 1. 0.96 0.95 0.9469 0.7157 0.9675 0.9981 0.9951 0.9652 0.9512 0.9567 0.89 0.73 0.97 0.84 0.98 rs324136 . . Benign not_specified RCV000123425.1 MedGen CN169374 . . . . . . 0.378 0.112 T 0.0 0.026 B 0.0 0.013 B 0.007 0.314 N 0.999 0.588 P -1.04 0.011 N -0.43 0.697 T 0.9 0.016 N 0.057 0.040 -1.086 0.063 T 0.033 0.142 T . . . -0.555 0.052 0.161 0.780 0.117 0.116 0.165 N c -0.964 -0.756 0.635 0.220 0.707 0.730 0 2.88 0.325 2.040 0.406 -0.495 0.052 0.942 0.325 0.879 0.368 9.255 0.365 Alanine-tRNA ligase\x2c class IIc\x2c anti-codon-binding domain|Alanyl-tRNA synthetase\x2c class IIc\x2c N-terminal|Alanyl-tRNA synthetase\x2c class IIc\x2c core domain ENSG00000146221.8 Skin_Sun_Exposed_Lower_leg 0.9526 0.7164 0.9606 0.9316 0.9985 0.9957 0.9673 0.9502 0.9582 0.9059 0.7292 0.9618 0.9139 0.9975 0.9954 0.9716 0.9497 hom 1953.51 67 6 44275011 . T C 1953.51 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;QD=29.16;VQSLOD=8.8932;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1987,159,0 6 44310854 44310854 G A exonic SPATS1 nonsynonymous SNV SPATS1:NM_145026:exon2:c.G22A:p.G8R 0.35 0.098 0.51 0.62 0.3 0.38 0.3346 0.1274 0.5647 0.6256 0.3312 0.2763 0.3256 0.3892 0.23 0.13 0.28 0.27 0.21 rs10948132 COSM4415095;COSM4415096 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D 0.064 0.220 N 1 0.090 P 0.805 0.203 L 0.29 0.589 T -0.94 0.251 N 0.274 0.414 -0.766 0.571 T 0.181 0.529 T . . . 3.589 0.489 23.2 0.998 0.847 0.060 0.119 N c -0.144 -0.393 0.999 0.384 0.497 0.185 0 2.55 0.296 0.768 0.261 0.980 0.597 0.009 0.180 0.049 0.163 8.293 0.310 . ENSG00000096401.7|ENSG00000249481.2 Esophagus_Mucosa|Testis 0.3456 0.1237 0.5460 0.1794 0.6259 0.3215 0.2816 0.3117 0.3889 0.2656 0.1233 0.5060 0.1821 0.6426 0.3242 0.2835 0.2536 het 607.70 96 6 44310854 . G A 607.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.778;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;MQRankSum=1.941;QD=6.33;ReadPosRankSum=-0.779;VQSLOD=5.5751;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,30:96:99:638,0,1894 6 44320548 44320548 T A exonic SPATS1 synonymous SNV SPATS1:NM_145026:exon3:c.T225A:p.S75S 0.7 0.62 0.83 0.7 0.77 0.65 0.7430 0.6656 0.7508 0.7376 0.7604 0.7782 0.7533 0.6391 0.74 0.68 0.78 0.74 0.75 rs4714783 COSM3949270;COSM3949269 1(lung) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7480 0.6617 0.7584 0.8439 0.7339 0.7678 0.7750 0.7718 0.6398 0.7423 0.6687 0.7739 0.8311 0.7252 0.7629 0.7754 0.7914 het 1210.91 84 6 44320548 . T A 1210.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.456;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=60.00;MQ0=0;MQRankSum=-0.725;QD=14.42;ReadPosRankSum=2.300;VQSLOD=4.9275;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,43:84:99:1241,0,1182 6 45290634 45290634 G A exonic SUPT3H nonsynonymous SNV SUPT3H:NM_001350326:exon3:c.C20T:p.T7M,SUPT3H:NM_181356:exon3:c.C20T:p.T7M 0.0046 0.0008 0.0029 . 0.018 0.002 0.0119 0.0024 0.0044 0.0008 0.0202 0.0176 0.0122 0.0028 0.011 0.0036 0.015 . 0.016 rs9472463 . . . . . . . . . . . . . 0.008 0.586 D 0.005 0.119 B 0.01 0.139 B 0.191 0.033 N 1 0.810 D . . . 0.8 0.488 T -1.16 0.297 N 0.014 0.009 -1.034 0.192 T 0.053 0.225 T . . . 5.505 0.748 26.3 0.998 0.862 0.738 0.358 D c -0.090 0.054 0.995 0.338 0.487 0.133 0 4.34 0.511 2.892 0.481 0.154 0.240 1.000 0.715 0.999 0.750 8.330 0.312 . . . 0.0118 0.0024 0.0049 0.0279 0.0006 0.0199 0.0163 0.0125 0.0029 0.0117 0.0026 0.0072 0.0298 0 0.0158 0.0168 0.0173 het 424.45 34 6 45290634 . G A 424.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.259;DP=34;Dels=0.00;FS=1.532;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=1.397;QD=12.48;ReadPosRankSum=-0.190;VQSLOD=5.5680;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,18:34:99:454,0,466 6 46107752 46107752 C G exonic ENPP4 nonsynonymous SNV ENPP4:NM_014936:exon2:c.C432G:p.H144Q 0.45 0.22 0.45 0.44 0.53 0.69 0.5172 0.2527 0.4825 0.4176 0.5095 0.5409 0.5231 0.6667 0.44 0.26 0.53 0.49 0.63 rs7451713 COSM5003617 1(pancreas) . . . . . . . . . . . 0.087 0.324 T 0.077 0.228 B 0.093 0.286 B 0.002 0.365 N 0.099 0.362 P 0.37 0.121 N -0.59 0.716 T -2.23 0.500 N 0.109 0.117 -1.081 0.071 T 0.069 0.284 T . . . 0.899 0.180 10.07 0.925 0.213 0.883 0.479 D c -0.774 -0.609 0.970 0.292 0.644 0.439 0 2.08 0.260 1.076 0.301 -0.474 0.054 1.000 0.715 0.803 0.337 10.585 0.443 Alkaline phosphatase-like\x2c alpha/beta/alpha|Alkaline-phosphatase-like\x2c core domain ENSG00000231769.2|ENSG00000231769.2|ENSG00000112796.5|ENSG00000112796.5|ENSG00000112796.5|ENSG00000112796.5|ENSG00000231769.2|ENSG00000112796.5|ENSG00000231769.2|ENSG00000231769.2|ENSG00000001561.6|ENSG00000001561.6|ENSG00000231769.2|ENSG00000001561.6|ENSG00000112796.5|ENSG00000231769.2|ENSG00000231769.2|ENSG00000112796.5|ENSG00000001561.6|ENSG00000112796.5|ENSG00000001561.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Lung|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Whole_Blood 0.5184 0.2477 0.4813 0.6167 0.4202 0.5044 0.5344 0.5215 0.6690 0.4365 0.2551 0.4698 0.5993 0.4271 0.4980 0.5187 0.5133 hom 3863.63 120 6 46107752 . C G 3863.63 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.25;MQ0=0;QD=32.20;VQSLOD=7.9729;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3863,301,0 6 46129345 46129345 G A exonic ENPP5 synonymous SNV ENPP5:NM_001290073:exon4:c.C870T:p.T290T,ENPP5:NM_021572:exon4:c.C1152T:p.T384T,ENPP5:NM_001290072:exon5:c.C1152T:p.T384T 0.45 0.19 0.45 0.45 0.53 0.7 0.5167 0.2317 0.4818 0.4202 0.5094 0.5418 0.5264 0.6719 0.43 0.24 0.53 0.47 0.63 rs2235881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5184 0.2282 0.4805 0.6169 0.4220 0.5045 0.5352 0.5212 0.6754 0.4302 0.2341 0.4688 0.5933 0.4287 0.4986 0.5176 0.5164 hom 8246.01 250 6 46129345 . G A 8246.01 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2199;MQ=58.90;MQ0=0;QD=32.98;VQSLOD=8.2311;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8245,656,0 6 46135489 46135489 T C exonic ENPP5 nonsynonymous SNV ENPP5:NM_001290073:exon2:c.A229G:p.I77V,ENPP5:NM_021572:exon2:c.A511G:p.I171V,ENPP5:NM_001290072:exon3:c.A511G:p.I171V 0.44 0.19 0.45 0.45 0.53 0.69 0.5128 0.2322 0.4813 0.4202 0.5 0.5363 0.5231 0.6676 0.43 0.24 0.53 0.47 0.6 rs6926570 COSM4161254 1(pancreas);1(thyroid) . . . . . . . . . . . 0.301 0.144 T 0.379 0.325 B 0.241 0.369 B 0.000 0.843 D 0.003 0.437 P 1.915 0.514 L -0.66 0.724 T -0.1 0.085 N 0.205 0.251 -0.860 0.513 T 0.156 0.489 T . . . 3.160 0.439 22.6 0.998 0.874 0.988 0.872 D c 0.161 0.311 1.000 0.451 0.732 0.924 0 5.33 0.756 7.639 0.824 1.049 0.752 1.000 0.715 0.997 0.653 15.624 0.765 Alkaline phosphatase-like\x2c alpha/beta/alpha|Alkaline-phosphatase-like\x2c core domain ENSG00000231769.2|ENSG00000231769.2|ENSG00000112796.5|ENSG00000112796.5|ENSG00000112796.5|ENSG00000112796.5|ENSG00000231769.2|ENSG00000112796.5|ENSG00000231769.2|ENSG00000231769.2|ENSG00000001561.6|ENSG00000001561.6|ENSG00000231769.2|ENSG00000001561.6|ENSG00000112796.5|ENSG00000231769.2|ENSG00000231769.2|ENSG00000112796.5|ENSG00000001561.6|ENSG00000112796.5|ENSG00000001561.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Lung|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Whole_Blood 0.5144 0.2271 0.4794 0.6168 0.4221 0.4956 0.5301 0.5157 0.6705 0.4268 0.2332 0.4724 0.5967 0.4256 0.4894 0.5139 0.5103 hom 5134.95 159 6 46135489 . T C 5134.95 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9863;MQ=59.58;MQ0=0;QD=32.30;VQSLOD=8.8951;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5135,394,0 6 46135984 46135984 G T exonic ENPP5 nonsynonymous SNV ENPP5:NM_021572:exon2:c.C16A:p.L6I,ENPP5:NM_001290072:exon3:c.C16A:p.L6I 0.44 0.19 0.45 0.45 0.53 0.69 0.5167 0.2334 0.4816 0.4206 0.5003 0.5388 0.5292 0.6804 0.43 0.23 0.52 0.47 0.62 rs3806995 . . . . . . . . . . . . . 0.092 0.316 T 0.008 0.135 B 0.008 0.127 B 0.622 0.058 N 1 0.090 P 2.36 0.681 M -0.86 0.745 T -0.21 0.103 N 0.072 0.061 -1.036 0.187 T 0.106 0.388 T . . . 0.486 0.141 7.322 0.944 0.242 0.249 0.223 N c -0.748 -0.707 0.000 0.069 0.732 0.924 0 3.41 0.380 1.297 0.328 0.985 0.599 0.012 0.185 0.002 0.062 5.357 0.153 . ENSG00000231769.2|ENSG00000231769.2|ENSG00000112796.5|ENSG00000112796.5|ENSG00000112796.5|ENSG00000112796.5|ENSG00000231769.2|ENSG00000112796.5|ENSG00000231769.2|ENSG00000231769.2|ENSG00000001561.6|ENSG00000001561.6|ENSG00000231769.2|ENSG00000001561.6|ENSG00000112796.5|ENSG00000231769.2|ENSG00000231769.2|ENSG00000112796.5|ENSG00000001561.6|ENSG00000112796.5|ENSG00000001561.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Lung|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Whole_Blood 0.5144 0.2270 0.4847 0.6220 0.4245 0.4975 0.5313 0.5191 0.6738 0.4266 0.2322 0.4701 0.5960 0.4282 0.4894 0.5138 0.5072 hom 1525 55 6 46135984 . G T 1525 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.669;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7840;MQ=58.90;MQ0=0;MQRankSum=-0.850;QD=27.73;ReadPosRankSum=0.409;VQSLOD=7.6926;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,54:55:99:1558,120,0 6 46563817 46563817 A T exonic CYP39A1 nonsynonymous SNV CYP39A1:NM_001278739:exon7:c.T456A:p.N152K,CYP39A1:NM_001278738:exon8:c.T912A:p.N304K,CYP39A1:NM_016593:exon8:c.T972A:p.N324K 0.49 0.7 0.38 0.39 0.27 0.62 0.3562 0.6449 0.4111 0.3239 0.2233 0.2626 0.3532 0.5847 0.39 0.63 0.27 0.56 0.25 rs7761731 COSM4406953 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.441 N 1.000 0.189 P -2.045 0.002 N -1.85 0.843 D 1.6 0.007 N 0.041 0.021 -1.036 0.186 T 0.059 0.247 T . . . -0.124 0.082 1.557 0.724 0.097 0.161 0.190 N c -1.156 -0.935 0.000 0.029 0.554 0.246 0 -0.545 0.112 -0.012 0.125 -0.300 0.081 0.978 0.348 0.928 0.402 3.807 0.082 . ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000172348.10|ENSG00000180113.11 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Pancreas|Testis|Thyroid 0.3465 0.6491 0.3974 0.3681 0.3163 0.2223 0.2548 0.3406 0.5778 0.3653 0.6464 0.3866 0.3411 0.2947 0.2302 0.2431 0.3204 het 364.21 36 6 46563817 . A T 364.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.032;DP=36;Dels=0.00;FS=1.357;HRun=2;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;MQRankSum=-0.642;QD=10.12;ReadPosRankSum=-1.187;VQSLOD=5.5444;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:36:99:394,0,583 6 46620252 46620252 C G exonic CYP39A1 nonsynonymous SNV CYP39A1:NM_001278738:exon1:c.G68C:p.R23P,CYP39A1:NM_016593:exon1:c.G68C:p.R23P 0.14 0.018 0.14 0.13 0.21 0.25 0.2025 0.0461 0.1181 0.1296 0.2176 0.2278 0.2173 0.2890 0.17 0.052 0.23 0.16 0.13 rs12192544 COSM4004055 1(haematopoietic_and_lymphoid_tissue);4(soft_tissue);1(pancreas) . . . . . . . . . . . 0.121 0.277 T 0.961 0.535 D 0.41 0.430 B 0.936 0.076 N 1 0.090 P 1.655 0.426 L -1.01 0.762 T -1.48 0.362 N 0.203 0.249 -0.885 0.494 T 0.244 0.613 T . . . 2.721 0.388 20.9 0.990 0.488 0.023 0.066 N c -0.184 -0.297 1.000 0.747 0.455 0.088 0 3.36 0.374 0.154 0.160 0.020 0.144 0.013 0.187 0.720 0.314 9.704 0.392 . ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000146233.3|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000146070.12|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Uterus|Vagina 0.2016 0.0448 0.1181 0.3037 0.1333 0.2216 0.2229 0.2001 0.2845 0.1717 0.0516 0.1492 0.3079 0.1278 0.2301 0.2290 0.2065 het 3931.35 249 6 46620252 . C G 3931.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.036;DP=249;DS;Dels=0.00;FS=5.977;HRun=1;HaplotypeScore=4.3388;MQ=59.25;MQ0=0;MQRankSum=0.104;QD=15.79;ReadPosRankSum=-0.549;VQSLOD=4.8695;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:116,132:249:99:3298,0,3083 6 46623698 46623698 T C exonic SLC25A27 synonymous SNV SLC25A27:NM_001204051:exon2:c.T225C:p.A75A,SLC25A27:NM_001204052:exon2:c.T225C:p.A75A,SLC25A27:NM_004277:exon2:c.T225C:p.A75A 0.89 0.97 0.86 0.91 0.76 0.89 0.8319 0.9536 0.8546 0.8753 0.7612 0.8001 0.8233 0.8788 0.86 0.95 0.81 0.92 0.77 rs3757241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8293 0.9550 0.8563 0.8249 0.8695 0.7576 0.8002 0.8120 0.8766 0.8538 0.9533 0.8433 0.8377 0.8681 0.7673 0.8174 0.8224 hom 7070.54 222 6 46623698 . T C 7070.54 Mask AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.7033;MQ=58.69;MQ0=0;QD=31.85;VQSLOD=5.7918;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:7070,548,0 6 46632594 46632594 T C exonic SLC25A27 nonsynonymous SNV SLC25A27:NM_001204051:exon5:c.T590C:p.I197T,SLC25A27:NM_001204052:exon5:c.T590C:p.I197T,SLC25A27:NM_004277:exon5:c.T590C:p.I197T 0.029 0.0038 0.036 . 0.058 0.06 0.0486 0.0078 0.0186 0.0004 0.0624 0.0616 0.0460 0.0614 0.047 0.011 0.064 0.011 0.041 rs35884480 . . . . . . . . . . . . . 0.431 0.189 T 0.028 0.210 B 0.042 0.253 B 0.004 0.337 N 0.955 0.379 D 1.195 0.303 L -1.41 0.806 T -2.13 0.526 N 0.229 0.570 -0.769 0.569 T 0.202 0.559 T . . . 2.556 0.368 19.83 0.980 0.373 0.943 0.604 D c -0.056 0.137 0.768 0.236 0.706 0.609 0 5.13 0.696 6.101 0.709 1.061 0.807 1.000 0.715 0.999 0.750 12.905 0.574 Mitochondrial carrier domain ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.0478 0.0079 0.0199 0.1016 0.0005 0.0610 0.0590 0.0405 0.0569 0.0433 0.0100 0.0251 0.1060 0.0006 0.0593 0.0622 0.0601 het 399.29 36 6 46632594 . T C 399.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.954;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;MQRankSum=0.281;QD=11.09;ReadPosRankSum=-0.017;VQSLOD=6.0777;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,18:36:99:429,0,444 6 46657057 46657057 A G exonic TDRD6 nonsynonymous SNV TDRD6:NM_001010870:exon1:c.A1192G:p.T398A,TDRD6:NM_001168359:exon1:c.A1192G:p.T398A 0.89 0.98 0.86 0.91 0.76 0.89 0.8335 0.9606 0.8550 0.8777 0.7613 0.7999 0.8238 0.8803 0.86 0.96 0.81 0.94 0.78 rs3799277 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.660 0.104 N 1 0.090 P -1.845 0.003 N 2.58 0.134 T 0.6 0.025 N 0.017 0.003 -0.907 0.473 T 0.003 0.008 T . . . -2.414 0.004 0.001 0.512 0.044 0.109 0.161 N c -1.097 -0.833 0.077 0.158 0.487 0.133 0 3.79 0.426 0.828 0.269 -0.223 0.096 0.788 0.293 0.566 0.282 8.355 0.313 . ENSG00000146233.3 Thyroid 0.8300 0.9626 0.8564 0.8252 0.8709 0.7577 0.7998 0.8128 0.8786 0.8555 0.9598 0.8438 0.8377 0.8710 0.7668 0.8170 0.8218 hom 8479.36 250 6 46657057 . A G 8479.36 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9246;MQ=59.48;MQ0=0;QD=33.92;VQSLOD=8.7521;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8479,662,0 6 46658905 46658905 C G exonic TDRD6 nonsynonymous SNV TDRD6:NM_001010870:exon1:c.C3040G:p.Q1014E,TDRD6:NM_001168359:exon1:c.C3040G:p.Q1014E 0.42 0.36 0.43 0.35 0.33 0.64 0.3777 0.3827 0.4240 0.2945 0.3147 0.3274 0.3775 0.6144 0.35 0.38 0.33 0.45 0.3 rs9381472 COSM4416679 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.061 0.371 T 0.004 0.119 B 0.013 0.184 B 0.239 0.036 N 0.992 0.239 P 0.6 0.156 N 3.1 0.083 T -0.89 0.240 N 0.067 0.054 -0.936 0.432 T 0.006 0.022 T . . . 0.716 0.162 8.933 0.953 0.260 0.904 0.512 D c -0.439 -0.268 0.000 0.044 0.487 0.133 0 3.52 0.393 1.953 0.397 0.852 0.362 0.957 0.332 0.975 0.474 10.058 0.412 Tudor domain ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000146233.3|ENSG00000180113.11|ENSG00000242973.2|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000146070.12|ENSG00000180113.11|ENSG00000146233.3|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Uterus|Vagina 0.3782 0.3909 0.4160 0.4048 0.2954 0.3184 0.3254 0.3680 0.6050 0.3476 0.3919 0.3959 0.3609 0.2726 0.3298 0.3312 0.3449 het 518.39 45 6 46658905 . C G 518.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.468;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.65;MQ0=0;MQRankSum=1.062;QD=11.52;ReadPosRankSum=0.537;VQSLOD=5.9102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,20:45:99:548,0,713 6 46659663 46659663 C T exonic TDRD6 synonymous SNV TDRD6:NM_001010870:exon1:c.C3798T:p.P1266P,TDRD6:NM_001168359:exon1:c.C3798T:p.P1266P 0.027 0.0045 0.02 0.002 0.061 0.054 0.0527 0.0147 0.0205 0.0002 0.0548 0.0717 0.0442 0.0486 0.054 0.011 0.076 0.022 0.11 rs12199679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0511 0.0134 0.0228 0.0407 0.0001 0.0543 0.0741 0.0443 0.0457 0.0488 0.0150 0.0323 0.0563 0 0.0517 0.0738 0.0509 het 374.68 29 6 46659663 . C T 374.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.074;DP=29;Dels=0.00;FS=1.441;HRun=2;HaplotypeScore=0.9996;MQ=58.70;MQ0=0;MQRankSum=0.504;QD=12.92;ReadPosRankSum=-1.381;VQSLOD=5.3745;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,16:29:99:405,0,333 6 46672943 46672943 A G exonic PLA2G7 nonsynonymous SNV PLA2G7:NM_001168357:exon11:c.T1136C:p.V379A,PLA2G7:NM_005084:exon11:c.T1136C:p.V379A 0.81 0.72 0.85 0.91 0.76 0.86 0.8033 0.7403 0.8403 0.8777 0.7586 0.7923 0.7976 0.8409 0.78 0.75 0.8 0.77 0.73 rs1051931 . . other|not provided Asthma_and_atopy\x2c_susceptibility_to|not_provided RCV000008378.2|RCV000049574.1 MedGen CN221809 . . . . . . 0.321 0.135 T 0.99 0.615 D 0.814 0.570 P 0.029 0.255 N 1.000 0.186 P 2.54 0.743 M 0.63 0.531 T -1.53 0.372 N 0.662 0.674 -0.909 0.470 T 0.123 0.426 T . . . 3.997 0.537 23.6 0.997 0.822 0.944 0.607 D c 0.500 0.517 0.807 0.243 0.615 0.372 0 5.87 0.942 6.985 0.758 1.140 0.893 0.988 0.363 0.944 0.418 11.874 0.516 Alpha/Beta hydrolase fold . . 0.8046 0.7461 0.8380 0.7963 0.8716 0.7551 0.7940 0.7899 0.8388 0.7934 0.7554 0.8297 0.8179 0.8733 0.7636 0.8111 0.7971 hom 2037.43 66 6 46672943 . A G 2037.43 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=30.87;VQSLOD=9.3519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2070,159,0 6 46684222 46684222 C T exonic PLA2G7 nonsynonymous SNV PLA2G7:NM_001168357:exon4:c.G275A:p.R92H,PLA2G7:NM_005084:exon4:c.G275A:p.R92H 0.32 0.26 0.37 0.22 0.26 0.52 0.3033 0.2753 0.3874 0.1904 0.2724 0.2590 0.3018 0.5124 0.27 0.28 0.26 0.34 0.22 rs1805017 COSM451580 1(haematopoietic_and_lymphoid_tissue);8(soft_tissue) not provided not_provided RCV000049573.1 MedGen CN221809 Lipoprotein-associated phospholipase A2 activity and mass . 11.10 20442857 rs1805017 6E-14 0.589 0.058 T 0.0 0.026 B 0.0 0.013 B 0.788 0.067 N 1 0.090 P -0.51 0.026 N 0.59 0.540 T 0.61 0.025 N 0.11 0.118 -1.025 0.221 T 0.020 0.086 T . . . 0.285 0.121 5.542 0.808 0.129 0.008 0.031 N c -1.660 -1.746 1.000 0.747 0.638 0.428 0 -10.0 0.004 -2.833 0.008 -0.450 0.056 0.000 0.063 0.005 0.090 5.623 0.166 . ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000146233.3|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000146233.3|ENSG00000180113.11|ENSG00000242973.2|ENSG00000153291.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000146070.12|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000146070.12|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000146070.12|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11|ENSG00000180113.11|ENSG00000153291.11|ENSG00000180113.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Stomach|Thyroid|Thyroid|Vagina 0.3078 0.2806 0.3763 0.3498 0.1967 0.2770 0.2562 0.3007 0.5057 0.2712 0.2846 0.3493 0.3179 0.1949 0.2843 0.2624 0.2838 het 946.56 72 6 46684222 . C T 946.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.310;DP=72;Dels=0.00;FS=4.811;HRun=0;HaplotypeScore=0.0000;MQ=57.72;MQ0=0;MQRankSum=1.239;QD=13.15;ReadPosRankSum=-1.352;VQSLOD=4.5720;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,37:72:99:977,0,857 6 46802370 46802370 G A exonic MEP1A synonymous SNV MEP1A:NM_005588:exon12:c.G1665A:p.T555T 0.71 0.91 0.72 0.48 0.63 0.76 0.6697 0.8663 0.7706 0.4774 0.5898 0.6392 0.6046 0.7343 0.72 0.86 0.65 0.74 0.62 rs4714952 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6681 0.8683 0.7687 0.7125 0.4748 0.5894 0.6363 0.6661 0.7253 0.6881 0.8582 0.7775 0.6457 0.4651 0.5951 0.6323 0.6588 het 2094.41 201 6 46802370 . G A 2094.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.346;DP=201;Dels=0.00;FS=1.113;HRun=0;HaplotypeScore=4.1699;MQ=59.34;MQ0=0;MQRankSum=-0.422;QD=10.42;ReadPosRankSum=1.029;VQSLOD=5.0573;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:117,84:201:99:2124,0,2978 6 46803018 46803018 A T exonic MEP1A nonsynonymous SNV MEP1A:NM_005588:exon13:c.A1816T:p.T606S 0.32 0.42 0.3 0.27 0.25 0.34 0.3509 0.4602 0.4126 0.3730 0.2800 0.3251 0.3078 0.3533 0.3 0.39 0.25 0.27 0.17 rs2297020 COSM4161256 1(haematopoietic_and_lymphoid_tissue);2(soft_tissue);1(thyroid) . . . . . . . . . . . 0.097 0.309 T 0.126 0.253 B 0.034 0.212 B 0.150 0.030 N 1 0.090 P 0.695 0.181 N 1.88 0.239 T -1.0 0.264 N 0.033 0.013 -1.061 0.116 T 0.014 0.056 T . . . -2.171 0.006 0.001 0.707 0.091 0.076 0.134 N c -1.534 -1.673 0.789 0.240 0.526 0.212 0 -10.4 0.003 -0.784 0.047 -0.125 0.112 0.000 0.063 0.009 0.108 12.198 0.534 . ENSG00000153291.11 Adipose_Subcutaneous 0.2709 0.4021 0.3157 0.2991 0.2922 0.1965 0.2395 0.2519 0.3100 0.2775 0.3999 0.3206 0.2947 0.2894 0.1975 0.2223 0.2597 het 355.03 36 6 46803018 . A T 355.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.353;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.81;MQ0=2;MQRankSum=0.277;QD=9.86;ReadPosRankSum=0.416;VQSLOD=4.4495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:36:99:385,0,427 6 46803102 46803102 A G exonic MEP1A nonsynonymous SNV MEP1A:NM_005588:exon13:c.A1900G:p.M634V 0.34 0.48 0.31 0.27 0.25 0.33 0.3112 0.4871 0.3541 0.3257 0.2346 0.2739 0.2791 0.3398 0.31 0.44 0.25 0.38 0.2 rs2297019 COSM4161257 1(soft_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.007 N 1 0.090 P 0 0.065 N 1.98 0.219 T 0.18 0.050 N 0.028 0.009 -1.032 0.199 T 0.004 0.014 T . . . -2.436 0.004 0.001 0.338 0.020 0.012 0.042 N c -1.945 -2.003 0.005 0.110 0.526 0.212 0 -6.73 0.016 -2.848 0.008 -2.184 0.004 0.000 0.063 0.000 0.016 0.982 0.013 . ENSG00000153291.11 Adipose_Subcutaneous 0.2768 0.4619 0.3209 0.3006 0.2920 0.1981 0.2418 0.2566 0.3085 0.2934 0.4538 0.3261 0.2947 0.2886 0.1975 0.2230 0.2648 het 173.38 22 6 46803102 . A G 173.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.402;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=59.15;MQ0=0;MQRankSum=-0.467;QD=7.88;ReadPosRankSum=-0.601;VQSLOD=5.1884;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,9:22:99:203,0,345 6 46826508 46826508 G A exonic ADGRF5 synonymous SNV ADGRF5:NM_001098518:exon17:c.C3132T:p.N1044N,ADGRF5:NM_015234:exon17:c.C3132T:p.N1044N 0.84 0.55 0.91 0.99 0.92 0.94 0.9030 0.5839 0.9228 0.9902 0.9425 0.9291 0.9185 0.9222 0.82 0.59 0.93 0.7 0.91 rs613870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9097 0.5752 0.9182 0.8915 0.9903 0.9422 0.9317 0.9140 0.9235 0.8350 0.5823 0.9189 0.8974 0.9920 0.9379 0.9284 0.9153 hom 2997.98 96 6 46826508 . G A 2997.98 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9539;MQ=58.95;MQ0=0;QD=31.23;VQSLOD=8.6298;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,95:96:99:3031,253,0 6 46826715 46826715 T A exonic ADGRF5 synonymous SNV ADGRF5:NM_001098518:exon17:c.A2925T:p.V975V,ADGRF5:NM_015234:exon17:c.A2925T:p.V975V 0.84 0.56 0.91 0.99 0.92 0.94 0.9034 0.5895 0.9230 0.9902 0.9422 0.9290 0.9185 0.9221 0.82 0.6 0.93 0.69 0.91 rs572248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9101 0.5808 0.9184 0.8914 0.9903 0.9421 0.9316 0.9140 0.9235 0.8358 0.5868 0.9189 0.8974 0.9926 0.9381 0.9282 0.9143 hom 4250.77 139 6 46826715 . T A 4250.77 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2269;MQ=49.35;MQ0=3;QD=30.58;VQSLOD=3.3485;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4250,346,0 6 46826844 46826844 T C exonic ADGRF5 synonymous SNV ADGRF5:NM_001098518:exon17:c.A2796G:p.T932T,ADGRF5:NM_015234:exon17:c.A2796G:p.T932T 0.84 0.56 0.91 0.99 0.92 0.94 0.9031 0.5896 0.9227 0.9901 0.9415 0.9287 0.9174 0.9220 0.82 0.6 0.93 0.7 0.92 rs571247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9098 0.5809 0.9182 0.8912 0.9903 0.9413 0.9312 0.9132 0.9235 0.8352 0.5863 0.9189 0.8974 0.9926 0.9370 0.9279 0.9134 hom 5476.39 176 6 46826844 . T C 5476.39 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;QD=31.12;VQSLOD=9.5084;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5476,442,0 6 46826910 46826910 G A exonic ADGRF5 synonymous SNV ADGRF5:NM_001098518:exon17:c.C2730T:p.A910A,ADGRF5:NM_015234:exon17:c.C2730T:p.A910A 0.84 0.56 0.91 0.99 0.92 0.94 0.9034 0.5897 0.9231 0.9902 0.9422 0.9290 0.9185 0.9221 0.82 0.6 0.93 0.7 0.92 rs611779 COSM4161258 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9101 0.5810 0.9184 0.8915 0.9903 0.9421 0.9317 0.9140 0.9235 0.8358 0.5874 0.9189 0.8974 0.9926 0.9379 0.9284 0.9143 hom 5708.51 173 6 46826910 . G A 5708.51 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.36;MQ0=0;QD=33.00;VQSLOD=8.1296;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5708,448,0 6 46826979 46826979 A G exonic ADGRF5 synonymous SNV ADGRF5:NM_001098518:exon17:c.T2661C:p.Y887Y,ADGRF5:NM_015234:exon17:c.T2661C:p.Y887Y 0.32 0.37 0.28 0.36 0.2 0.36 0.2576 0.3416 0.3173 0.4039 0.1668 0.2061 0.2280 0.3327 0.25 0.33 0.21 0.32 0.16 rs9381487 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2560 0.3400 0.3137 0.2890 0.3958 0.1713 0.2013 0.2335 0.3267 0.2380 0.3266 0.3031 0.2914 0.3952 0.1648 0.1822 0.2347 het 1208.11 100 6 46826979 . A G 1208.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.467;DP=100;Dels=0.00;FS=2.744;HRun=1;HaplotypeScore=5.2934;MQ=59.00;MQ0=1;MQRankSum=1.648;QD=12.08;ReadPosRankSum=1.952;VQSLOD=3.8844;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,43:100:99:1238,0,1505 6 46827073 46827073 A G exonic ADGRF5 nonsynonymous SNV ADGRF5:NM_001098518:exon17:c.T2567C:p.M856T,ADGRF5:NM_015234:exon17:c.T2567C:p.M856T 0.51 0.15 0.62 0.63 0.72 0.58 0.6431 0.2171 0.6055 0.5869 0.7759 0.7227 0.6894 0.5893 0.56 0.23 0.72 0.37 0.75 rs547499 COSM5830493;COSM1444917 1(large_intestine) . . . . . . . . . . . 0.101 0.303 T 0.007 0.355 B 0.013 0.334 B 0.013 0.290 N 1.000 0.191 P 2.395 0.694 M 0.84 0.475 T -1.45 0.356 N 0.243 0.303 -1.025 0.220 T 0.055 0.234 T . . . 0.691 0.160 8.771 0.744 0.103 0.185 0.201 N c -0.208 -0.135 0.005 0.108 0.707 0.730 0 5.58 0.843 1.568 0.358 1.088 0.866 0.003 0.159 0.964 0.448 6.213 0.197 . ENSG00000153291.11|ENSG00000153291.11 Adipose_Subcutaneous|Heart_Left_Ventricle 0.6518 0.2112 0.6033 0.6020 0.5947 0.7708 0.7301 0.6788 0.5968 0.5876 0.2263 0.6158 0.6033 0.5964 0.7730 0.7454 0.6789 het 891.94 80 6 46827073 . A G 891.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.670;DP=80;Dels=0.00;FS=1.854;HRun=0;HaplotypeScore=1.4972;MQ=58.62;MQ0=0;MQRankSum=1.327;QD=11.15;ReadPosRankSum=0.864;VQSLOD=5.4330;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,35:80:99:922,0,1187 6 46827126 46827126 C T exonic ADGRF5 synonymous SNV ADGRF5:NM_001098518:exon17:c.G2514A:p.S838S,ADGRF5:NM_015234:exon17:c.G2514A:p.S838S 0.84 0.56 0.91 0.99 0.92 0.94 0.9036 0.5906 0.9231 0.9902 0.9422 0.9290 0.9185 0.9221 0.82 0.6 0.93 0.7 0.92 rs610856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9101 0.5809 0.9184 0.8915 0.9903 0.9421 0.9316 0.9141 0.9235 0.8357 0.5868 0.9189 0.8974 0.9926 0.9379 0.9283 0.9145 hom 3180.43 96 6 46827126 . C T 3180.43 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6316;MQ=58.10;MQ0=0;QD=33.13;VQSLOD=9.1510;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3213,250,0 6 46832813 46832813 G A exonic ADGRF5 synonymous SNV ADGRF5:NM_001098518:exon14:c.C1956T:p.V652V,ADGRF5:NM_015234:exon14:c.C1956T:p.V652V 0.5 0.12 0.62 0.63 0.72 0.57 0.6400 0.1873 0.6027 0.5871 0.7753 0.7228 0.6883 0.5874 0.55 0.21 0.72 0.37 0.75 rs614826 COSM3762113;COSM5425249 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6494 0.1806 0.6015 0.6015 0.5942 0.7706 0.7303 0.6766 0.5939 0.5801 0.2000 0.6148 0.6060 0.5983 0.7725 0.7455 0.6782 het 1488.09 148 6 46832813 . G A 1488.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.124;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9912;MQ=59.37;MQ0=0;MQRankSum=-1.211;QD=10.05;ReadPosRankSum=0.274;VQSLOD=6.1194;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,62:148:99:1518,0,2126 6 46834685 46834685 G A exonic ADGRF5 nonsynonymous SNV ADGRF5:NM_001098518:exon13:c.C1811T:p.T604M,ADGRF5:NM_015234:exon13:c.C1811T:p.T604M 0.84 0.56 0.91 0.99 0.92 0.94 0.9034 0.5896 0.9226 0.9902 0.9422 0.9291 0.9185 0.9220 0.82 0.6 0.93 0.7 0.92 rs586024 . . . . . . . . . . . . . 0.527 0.071 T 0.002 0.273 B 0.002 0.127 B 0.546 0.053 N 1 0.090 P -0.255 0.038 N 1.74 0.263 T 1.38 0.009 N 0.052 0.034 -0.984 0.342 T 0.011 0.042 T . . . 0.413 0.134 6.727 0.137 0.003 0.000 0.003 N c -1.214 -1.183 0.000 0.054 0.707 0.730 0 1.68 0.231 -0.304 0.082 0.244 0.267 0.000 0.063 0.000 0.016 8.232 0.306 . . . 0.9101 0.5809 0.9180 0.8916 0.9903 0.9421 0.9318 0.9141 0.9234 0.8356 0.5865 0.9177 0.8974 0.9932 0.9384 0.9284 0.9143 hom 2413.29 81 6 46834685 . G A 2413.29 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.37;MQ0=0;QD=29.79;VQSLOD=8.8950;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2446,187,0 6 46856100 46856100 G A exonic ADGRF5 synonymous SNV ADGRF5:NM_001098518:exon4:c.C300T:p.T100T,ADGRF5:NM_015234:exon4:c.C300T:p.T100T 0.86 0.94 0.86 0.84 0.86 0.78 0.8752 0.9352 0.8726 0.8567 0.9031 0.8840 0.8987 0.8010 0.89 0.93 0.88 0.9 0.92 rs678312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8755 0.9397 0.8790 0.9128 0.8563 0.9037 0.8793 0.8692 0.8052 0.8997 0.9380 0.8771 0.9106 0.8578 0.9096 0.8815 0.8870 hom 3732.60 122 6 46856100 . G A 3732.60 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9768;MQ=59.05;MQ0=0;QD=30.60;VQSLOD=9.1215;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3732,286,0 6 47563692 47563692 C T exonic CD2AP synonymous SNV CD2AP:NM_012120:exon12:c.C1204T:p.L402L 0.98 0.94 1. 1. 1. 1. 0.9942 0.9367 0.9971 1 1 0.9997 1 1 0.98 0.93 1. 0.94 0.98 rs2039503 . . Benign|Benign not_specified|Focal_segmental_glomerulosclerosis RCV000246372.1|RCV000290292.1 MedGen|MedGen CN169374|CN043606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9953 0.9331 0.9971 1 1 1 0.9998 0.9984 0.9999 0.9815 0.9349 0.9988 1 1 1 0.9999 0.9980 hom 6984.85 228 6 47563692 . C T 6984.85 Mask AC=2;AF=1.00;AN=2;DP=228;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8078;MQ=57.21;MQ0=0;QD=30.64;VQSLOD=6.7141;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,228:228:99:6984,551,0 6 47646748 47646748 T C exonic ADGRF2 nonsynonymous SNV ADGRF2:NM_153839:exon5:c.T145C:p.S49P 0.067 0.011 0.12 . 0.22 0.015 0.1377 0.0389 0.0686 0.0006 0.2186 0.2005 0.1414 0.0303 0.15 0.041 0.2 0.076 0.13 rs13212023 COSM4997888;COSM4997889 1(pancreas) . . . . . . . . . . . 0.042 0.524 D 0.993 0.670 D 0.898 0.619 P 0.460 0.124 N 1 0.090 P 1.545 0.392 L 1.83 0.398 T -2.56 0.553 D 0.249 0.354 -1.070 0.095 T 0.073 0.296 T . . . 2.863 0.405 21.7 0.986 0.433 0.083 0.140 N c -0.294 -0.481 0.000 0.057 0.487 0.133 0 2.12 0.262 0.707 0.252 0.086 0.193 0.002 0.151 0.006 0.095 5.144 0.142 . . . 0.1371 0.0360 0.0784 0.0811 0.0004 0.2166 0.2071 0.1516 0.0316 0.1522 0.0370 0.0801 0.0695 0.0018 0.2242 0.2231 0.1731 het 2091.47 166 6 47646748 . T C 2091.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.118;DP=166;Dels=0.00;FS=2.784;HRun=3;HaplotypeScore=6.3900;MQ=59.19;MQ0=0;MQRankSum=-0.218;QD=12.60;ReadPosRankSum=1.267;VQSLOD=4.8064;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,80:166:99:2121,0,2215 6 47646842 47646842 A G exonic ADGRF2 nonsynonymous SNV ADGRF2:NM_153839:exon5:c.A239G:p.Q80R 0.52 0.47 0.44 0.31 0.63 0.74 0.5935 0.4700 0.4442 0.2978 0.5793 0.6479 0.6278 0.7092 0.59 0.47 0.65 0.45 0.73 rs6907125 . . . . . . . . . . . . . 0.391 0.116 T 0.0 0.026 B 0.001 0.040 B 0.679 0.061 N 1 0.090 P -1.195 0.008 N 2.1 0.350 T 0.27 0.043 N 0.019 0.004 -0.987 0.333 T 0.011 0.040 T . . . -1.079 0.029 0.011 0.556 0.053 0.003 0.017 N c -1.410 -1.357 0.000 0.057 0.487 0.133 0 -1.76 0.075 0.215 0.172 -0.647 0.041 0.105 0.227 0.839 0.350 6.430 0.209 . ENSG00000164393.4|ENSG00000153294.7|ENSG00000164393.4|ENSG00000164393.4|ENSG00000153294.7|ENSG00000164393.4|ENSG00000153294.7|ENSG00000124818.10|ENSG00000164393.4|ENSG00000153294.7|ENSG00000153294.7|ENSG00000164393.4|ENSG00000153294.7 Artery_Tibial|Brain_Cerebellum|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.5870 0.4615 0.4430 0.7791 0.2942 0.5779 0.6422 0.6214 0.7096 0.5477 0.4606 0.4761 0.7833 0.3014 0.5690 0.6146 0.6181 het 2103.86 174 6 47646842 . A G 2103.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.124;DP=174;Dels=0.00;FS=0.577;HRun=1;HaplotypeScore=3.9412;MQ=59.20;MQ0=0;MQRankSum=0.795;QD=12.09;ReadPosRankSum=0.045;VQSLOD=6.3593;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,85:174:99:2134,0,2393 6 47649222 47649222 T G exonic ADGRF2 synonymous SNV ADGRF2:NM_153839:exon7:c.T723G:p.S241S . . . . . . 0.5955 0.4736 0.4448 0.2982 0.5791 0.6477 0.6333 0.7219 0.59 0.48 0.65 0.45 0.75 rs8180544 COSM4004057;COSM4004058 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5888 0.4656 0.4435 0.7792 0.2944 0.578 0.6421 0.6213 0.7216 0.5485 0.4636 0.4749 0.7848 0.3043 0.5688 0.6142 0.6166 het 2661.18 169 6 47649222 . T G 2661.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.397;DP=169;Dels=0.00;FS=8.006;HRun=0;HaplotypeScore=2.6566;MQ=59.61;MQ0=0;MQRankSum=-1.572;QD=15.75;ReadPosRankSum=-0.672;VQSLOD=4.0010;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,101:169:99:2691,0,1726 6 47649265 47649265 T A exonic ADGRF2 nonsynonymous SNV ADGRF2:NM_153839:exon7:c.T766A:p.L256M 0.4 0.24 0.53 0.69 0.37 0.25 0.3802 0.2759 0.5386 0.7025 0.4212 0.3480 0.36 0.2774 0.33 0.28 0.35 0.42 0.25 rs17541107 COSM5001985;COSM5001984 1(bone);1(stomach);1(pancreas) . . . . . . . . . . . 0.129 0.361 T 0.973 0.556 D 0.807 0.567 P 0.415 0.129 N 1 0.090 P 2.785 0.815 M 0.91 0.449 T -0.72 0.204 N 0.056 0.089 -0.992 0.322 T 0.086 0.335 T . . . -1.074 0.029 0.011 0.976 0.341 0.055 0.112 N c -0.748 -1.006 0.029 0.139 0.487 0.133 0 -6.69 0.016 -2.037 0.015 -0.466 0.054 0.000 0.063 0.038 0.155 9.618 0.387 . ENSG00000164393.4|ENSG00000153294.7|ENSG00000153294.7|ENSG00000164393.4|ENSG00000164393.4|ENSG00000164393.4|ENSG00000153294.7|ENSG00000164393.4|ENSG00000153294.7|ENSG00000124818.10|ENSG00000164393.4|ENSG00000153294.7|ENSG00000153294.7|ENSG00000164393.4|ENSG00000153294.7 Artery_Tibial|Brain_Cerebellum|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.3902 0.2775 0.5374 0.2109 0.7058 0.4224 0.3542 0.3634 0.2775 0.3767 0.2793 0.5108 0.2 0.6973 0.4310 0.3830 0.3640 het 2027.82 208 6 47649265 . T A 2027.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.117;DP=208;Dels=0.00;FS=1.738;HRun=0;HaplotypeScore=4.8478;MQ=59.36;MQ0=0;MQRankSum=0.279;QD=9.75;ReadPosRankSum=0.558;VQSLOD=5.2353;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:126,82:208:99:2058,0,3426 6 47649573 47649573 C T exonic ADGRF2 synonymous SNV ADGRF2:NM_153839:exon7:c.C1074T:p.S358S 0.51 0.44 0.43 0.31 0.63 0.74 0.5907 0.4450 0.4426 0.2973 0.5788 0.6472 0.6256 0.7085 0.58 0.45 0.65 . 0.73 rs10807371 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5847 0.4379 0.4415 0.7790 0.2941 0.5767 0.6415 0.6192 0.7088 0.5378 0.4354 0.4712 0.7819 0.2955 0.5688 0.6103 0.6124 het 2473.10 198 6 47649573 . C T 2473.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.031;DP=198;Dels=0.00;FS=0.575;HRun=0;HaplotypeScore=5.0696;MQ=59.32;MQ0=0;MQRankSum=0.669;QD=12.49;ReadPosRankSum=0.437;VQSLOD=5.7446;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,94:198:99:2503,0,2931 6 47649574 47649574 A G exonic ADGRF2 nonsynonymous SNV ADGRF2:NM_153839:exon7:c.A1075G:p.K359E 0.51 0.44 0.43 0.31 0.63 0.74 0.5908 0.4451 0.4428 0.2972 0.5788 0.6473 0.6267 0.7084 0.58 0.45 0.65 . 0.73 rs10807372 COSM5003950;COSM5003951 1(pancreas) . . . . . . . . . . . 0.304 0.172 T 0.002 0.139 B 0.006 0.162 B 0.407 0.130 N 1 0.090 P 1.15 0.294 L 2.06 0.358 T -0.59 0.176 N 0.08 0.095 -1.016 0.248 T 0.018 0.072 T . . . 0.577 0.149 7.996 0.971 0.320 0.055 0.113 N c -0.706 -0.623 0.000 0.054 0.487 0.133 0 1.64 0.228 1.617 0.363 1.140 0.893 0.602 0.275 0.975 0.474 1.345 0.020 GPS motif ENSG00000164393.4|ENSG00000153294.7|ENSG00000164393.4|ENSG00000164393.4|ENSG00000153294.7|ENSG00000164393.4|ENSG00000153294.7|ENSG00000124818.10|ENSG00000164393.4|ENSG00000153294.7|ENSG00000153294.7|ENSG00000164393.4|ENSG00000153294.7 Artery_Tibial|Brain_Cerebellum|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.5848 0.4381 0.4416 0.7791 0.2941 0.5768 0.6415 0.6194 0.7088 0.5379 0.4356 0.4712 0.7819 0.2955 0.5688 0.6105 0.6121 het 2769.88 200 6 47649574 . A G 2769.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.000;DP=200;Dels=0.00;FS=1.206;HRun=0;HaplotypeScore=5.9362;MQ=59.33;MQ0=0;MQRankSum=-0.546;QD=13.85;ReadPosRankSum=0.408;VQSLOD=4.7181;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,95:200:99:2800,0,2888 6 47649694 47649694 A G exonic ADGRF2 nonsynonymous SNV ADGRF2:NM_153839:exon7:c.A1195G:p.I399V 0.52 0.48 0.44 0.31 0.63 0.75 0.5954 0.4726 0.4447 0.2986 0.5791 0.6477 0.6322 0.7219 0.59 0.48 0.65 0.45 0.74 rs9381594 COSM4161262;COSM4161263 1(thyroid) . . . . . . . . . . . 0.099 0.306 T 0.923 0.505 P 0.47 0.491 P 0.000 0.629 D 0.227 0.343 P 1.74 0.453 L 0.69 0.517 T -0.71 0.202 N 0.226 0.353 -0.999 0.302 T 0.095 0.360 T . . . 2.708 0.387 20.9 0.998 0.897 0.966 0.695 D c 0.321 0.351 0.662 0.223 0.554 0.246 0 5.39 0.775 6.071 0.707 1.199 0.960 1.000 0.715 1.000 0.888 14.577 0.677 GPCR\x2c family 2-like;GPS motif ENSG00000164393.4|ENSG00000153294.7|ENSG00000164393.4|ENSG00000164393.4|ENSG00000153294.7|ENSG00000164393.4|ENSG00000153294.7|ENSG00000124818.10|ENSG00000164393.4|ENSG00000153294.7|ENSG00000153294.7|ENSG00000164393.4|ENSG00000153294.7 Artery_Tibial|Brain_Cerebellum|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.5886 0.4641 0.4433 0.7790 0.2945 0.5777 0.6421 0.6209 0.7216 0.5485 0.4636 0.4761 0.7848 0.3032 0.5691 0.6143 0.6171 het 3201.51 215 6 47649694 . A G 3201.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.598;DP=215;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7365;MQ=59.46;MQ0=0;MQRankSum=-0.268;QD=14.89;ReadPosRankSum=-0.397;VQSLOD=6.1289;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,119:215:99:3232,0,2432 6 47654742 47654742 A T exonic ADGRF2 synonymous SNV ADGRF2:NM_153839:exon8:c.A1878T:p.L626L 0.52 0.46 0.43 0.31 0.63 0.75 0.5944 0.4621 0.4438 0.2975 0.5791 0.6478 0.6322 0.7217 0.59 0.47 0.65 0.42 0.73 rs9296573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5866 0.4534 0.4380 0.7788 0.2913 0.5772 0.6411 0.6195 0.7189 0.5462 0.4548 0.4713 0.7833 0.3052 0.5687 0.6147 0.6199 het 2471.69 188 6 47654742 . A T 2471.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.038;DP=188;Dels=0.00;FS=0.534;HRun=1;HaplotypeScore=0.9332;MQ=59.09;MQ0=0;MQRankSum=-1.269;QD=13.15;ReadPosRankSum=1.057;VQSLOD=5.2108;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,97:188:99:2502,0,2195 6 47682604 47682604 A C exonic ADGRF4 nonsynonymous SNV ADGRF4:NM_001347855:exon6:c.A1623C:p.K541N,ADGRF4:NM_153838:exon6:c.A1623C:p.K541N 0.82 0.68 0.9 0.87 0.89 0.85 0.8637 0.7020 0.9187 0.8695 0.8562 0.8809 0.8833 0.8559 0.82 0.7 0.89 0.76 0.89 rs9369738 COSM4161271;COSM4161270 1(thyroid) . . . . . . . . . . . 0.742 0.159 T 0.294 0.306 B 0.151 0.326 B 0.016 0.280 N 1 0.090 P 0.47 0.131 N 0.86 0.468 T -0.84 0.229 N 0.008 0.000 -1.018 0.244 T 0.018 0.075 T . . . -1.391 0.020 0.003 0.787 0.120 0.083 0.141 N c -2.221 -2.191 0.709 0.228 0.554 0.283 0 -1.48 0.082 -1.684 0.020 -3.055 0.001 0.000 0.063 0.016 0.126 0.830 0.010 GPCR\x2c family 2-like . . 0.8685 0.6976 0.9152 0.9156 0.8655 0.85 0.8800 0.8882 0.8570 0.8194 0.6993 0.9043 0.9233 0.8546 0.8451 0.8696 0.8635 hom 6275.37 205 6 47682604 . A C 6275.37 Mask AC=2;AF=1.00;AN=2;DP=205;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0821;MQ=59.34;MQ0=0;QD=30.61;VQSLOD=8.7486;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6274,535,0 6 47847179 47847179 A G exonic PTCHD4 synonymous SNV PTCHD4:NM_001013732:exon3:c.T1401C:p.V467V 0.75 0.64 0.85 0.8 0.75 0.75 0.7674 0.6676 0.8934 0.8589 0.7733 0.7558 0.7892 0.7383 0.72 0.67 0.74 0.8 . rs3799276 COSM5425431 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7713 0.6641 0.8809 0.7299 0.8613 0.7776 0.7511 0.7770 0.7358 0.7395 0.6550 0.8585 0.7467 0.8511 0.7849 0.7566 0.7832 het 844.69 58 6 47847179 . A G 844.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.465;DP=58;Dels=0.00;FS=1.023;HRun=0;HaplotypeScore=1.9973;MQ=60.00;MQ0=0;MQRankSum=-0.797;QD=14.56;ReadPosRankSum=0.734;VQSLOD=5.4798;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,34:58:99:875,0,694 6 47847401 47847401 A G exonic PTCHD4 synonymous SNV PTCHD4:NM_001013732:exon3:c.T1179C:p.A393A 0.65 0.46 0.79 0.75 0.68 0.68 0.6980 0.5123 0.8431 0.7884 0.7403 0.6928 0.7054 0.6715 0.63 0.51 0.68 0.6 . rs2068006 COSM5425600 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7064 0.5131 0.8293 0.6836 0.7877 0.7414 0.6888 0.7042 0.6690 0.6597 0.5072 0.8094 0.6921 0.7793 0.7520 0.6999 0.7393 het 761.32 45 6 47847401 . A G 761.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.032;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=0.831;QD=16.92;ReadPosRankSum=0.948;VQSLOD=6.5878;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,28:45:99:791,0,486 6 48036327 48036327 A C exonic PTCHD4 nonsynonymous SNV PTCHD4:NM_001013732:exon1:c.T65G:p.V22G,PTCHD4:NM_207499:exon1:c.T65G:p.V22G . . . . . . 0.2458 0.2689 0.3797 0.3243 0.4008 0.2358 0.2396 0.2189 . . . . . rs200176519 COSM3747690;COSM3747691 1(liver);1(thyroid);19(upper_aerodigestive_tract) . . . . . . . . . . . 0.004 0.654 D 0.099 0.260 B 0.018 0.256 B 0.000 0.523 D 1 0.810 D 2.33 0.670 M -3.21 0.933 D -2.02 0.465 N 0.666 0.734 -0.019 0.819 T 0.587 0.852 D . . . 2.318 0.340 18.28 0.988 0.455 0.820 0.410 D c -0.129 -0.038 1.000 0.462 0.625 0.396 0 3.36 0.374 3.280 0.511 1.183 0.905 1.000 0.715 1.000 0.888 8.071 0.297 . . . 0.0775 0.0572 0.0257 0.1188 0.0280 0.1143 0.0977 0.0535 0.0993 0.0024 0 0 0.0115 0 0 0.0046 0.0032 het 119.44 10 6 48036327 . A C 119.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DP=10;Dels=0.00;FS=7.782;HRun=2;HaplotypeScore=0.9665;MQ=57.66;MQ0=0;MQRankSum=0.742;QD=11.94;ReadPosRankSum=-0.742;VQSLOD=2.9307;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:2,8:10:20.53:149,0,21 6 49403282 49403282 T C exonic MUT nonsynonymous SNV MUT:NM_000255:exon12:c.A2011G:p.I671V 0.55 0.58 0.39 0.46 0.59 0.67 0.5768 0.5992 0.2938 0.4755 0.5905 0.6154 0.55 0.6514 0.61 0.59 0.62 0.52 0.61 rs8589 COSM4004063 1(haematopoietic_and_lymphoid_tissue) Benign\x2cBenign|Benign Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency\x2cnot_specified|Methylmalonic_acidemia RCV000203350.1\x2cRCV000078444.5|RCV000372712.1 MedGen:OMIM\x2cMedGen|MedGen:SNOMED_CT C1855114:251000\x2cCN169374|C0268583:42393006 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.012 0.149 B 0.000 0.843 N 1.000 0.201 P -0.89 0.014 N -4.02 0.964 D 0.72 0.021 N 0.037 0.017 -0.720 0.595 T 0.372 0.731 T . . . 0.044 0.098 3.021 0.389 0.026 0.247 0.223 N c -0.909 -0.622 0.004 0.105 0.732 0.924 0 4.92 0.640 3.895 0.557 -0.897 0.027 0.999 0.424 0.536 0.277 12.107 0.529 Cobalamin (vitamin B12)-binding domain|Methylmalonyl-CoA mutase\x2c C-terminal ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Vagina|Whole_Blood 0.5629 0.5961 0.3169 0.5437 0.4680 0.5916 0.6210 0.5375 0.6466 0.6019 0.5975 0.3938 0.5795 0.4690 0.6115 0.6272 0.6237 hom 1894.13 66 6 49403282 . T C 1894.13 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7870;MQ=59.65;MQ0=0;QD=28.70;VQSLOD=7.9162;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:66:99:1927,162,0 6 49412433 49412433 C T exonic MUT nonsynonymous SNV MUT:NM_000255:exon9:c.G1595A:p.R532H 0.27 0.17 0.21 0.21 0.33 0.42 0.3226 0.2028 0.1683 0.2446 0.3584 0.3645 0.3073 0.3638 0.31 0.21 0.37 0.21 0.34 rs1141321 COSM5001998 1(pancreas) Benign\x2cBenign|Likely benign Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency\x2cnot_specified|Methylmalonic_acidemia RCV000203323.1\x2cRCV000078440.5|RCV000304285.1 MedGen:OMIM\x2cMedGen|MedGen:SNOMED_CT C1855114:251000\x2cCN169374|C0268583:42393006 . . . . . . 0.056 0.381 T 0.225 0.287 B 0.214 0.358 B 0.011 0.298 N 1 0.090 P 2.04 0.558 M -4.84 0.982 D -1.31 0.328 N 0.112 0.121 0.580 0.916 D 0.861 0.954 D . . . 2.918 0.411 21.9 0.987 0.437 0.035 0.086 N c -0.737 -0.831 0.000 0.012 0.706 0.609 0 1.44 0.215 -0.015 0.125 -0.354 0.069 0.004 0.165 0.940 0.414 9.977 0.408 Cobalamin (vitamin B12)-dependent enzyme\x2c catalytic|Methylmalonyl-CoA mutase\x2c alpha chain\x2c catalytic|Methylmalonyl-CoA mutase\x2c alpha/beta chain\x2c catalytic ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.3167 0.1980 0.1815 0.3296 0.2351 0.3649 0.3650 0.2995 0.3580 0.3132 0.2046 0.2088 0.3444 0.2171 0.3811 0.3716 0.3798 het 2029.40 161 6 49412433 . C T 2029.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.773;DP=161;DS;Dels=0.00;FS=0.722;HRun=0;HaplotypeScore=0.9332;MQ=58.49;MQ0=0;MQRankSum=0.239;QD=12.60;ReadPosRankSum=0.954;VQSLOD=6.0262;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,75:161:99:2059,0,2281 6 49425521 49425521 C T exonic MUT synonymous SNV MUT:NM_000255:exon3:c.G636A:p.K212K 0.55 0.57 0.39 0.48 0.59 0.68 0.5736 0.5800 0.2897 0.4905 0.5867 0.6126 0.5489 0.6503 0.6 0.57 0.62 0.58 0.55 rs2229384 . . Benign\x2cBenign|Benign Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency\x2cnot_specified|Methylmalonic_acidemia RCV000203353.1\x2cRCV000078447.6|RCV000276310.1 MedGen:OMIM\x2cMedGen|MedGen:SNOMED_CT C1855114:251000\x2cCN169374|C0268583:42393006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5625 0.5794 0.3149 0.5431 0.4856 0.5911 0.6203 0.5369 0.6477 0.5984 0.5812 0.3950 0.5795 0.4864 0.6112 0.6277 0.6227 hom 2635.36 91 6 49425521 . C T 2635.36 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=28.96;VQSLOD=8.0939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2668,211,0 6 49439805 49439805 G A exonic CENPQ nonsynonymous SNV CENPQ:NM_018132:exon4:c.G187A:p.G63R 0.33 0.42 0.23 0.21 0.33 0.42 0.3417 0.3987 0.1784 0.2471 0.3592 0.3660 0.3161 0.3652 0.38 0.39 0.37 0.3 0.34 rs4267943 COSM4155246 1(kidney);1(pancreas) . . . . . . . . . . . 0.012 0.546 D 0.003 0.102 B 0.0 0.013 B 0.357 0.137 N 1 0.090 P 0 0.065 N 1.58 0.291 T 0.22 0.047 N 0.028 0.009 -0.985 0.339 T 0.012 0.046 T . . . -0.270 0.071 0.775 0.746 0.104 0.011 0.039 N c -1.733 -1.806 0.628 0.219 0.707 0.730 0 -6.48 0.017 -0.800 0.046 -1.107 0.018 0.000 0.063 0.001 0.043 9.513 0.381 . ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7|ENSG00000031691.6|ENSG00000146085.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3319 0.3969 0.1917 0.3296 0.2378 0.3654 0.3664 0.3091 0.3594 0.3695 0.3974 0.2242 0.3444 0.2202 0.3811 0.3735 0.3978 het 1297.01 88 6 49439805 . G A 1297.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.197;DP=88;Dels=0.00;FS=1.795;HRun=0;HaplotypeScore=3.6115;MQ=58.35;MQ0=0;MQRankSum=-0.465;QD=14.74;ReadPosRankSum=-1.010;VQSLOD=5.2300;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,48:88:99:1327,0,1068 6 49701439 49701439 C A exonic CRISP3 nonsynonymous SNV CRISP3:NM_001190986:exon5:c.G469T:p.A157S,CRISP3:NM_006061:exon5:c.G439T:p.A147S 0.37 0.26 0.58 0.31 0.47 0.31 0.4264 0.2883 0.6268 0.2932 0.4711 0.4481 0.4383 0.3364 0.39 0.3 0.44 0.33 0.43 rs1864312 COSM3762120;COSM3762119 1(bone);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.414 0.100 T 0.177 0.273 B 0.135 0.316 B 0.684 0.061 U 1 0.090 P 0.31 0.103 N 3.23 0.070 T -1.36 0.344 N 0.211 0.562 -0.959 0.393 T 0.004 0.013 T . . . 0.982 0.188 10.56 0.740 0.102 0.054 0.111 N c -0.958 -0.918 0.996 0.345 0.487 0.133 0 3.18 0.355 0.749 0.258 0.653 0.293 0.000 0.063 0.007 0.100 7.810 0.282 Allergen V5/Tpx-1-related\x2c conserved site|CAP domain;CAP domain ENSG00000031691.6|ENSG00000031691.6|ENSG00000031691.6 Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial 0.4367 0.2837 0.6138 0.4889 0.2838 0.4670 0.4439 0.4713 0.3351 0.3938 0.2951 0.5656 0.5033 0.2670 0.4570 0.4361 0.4278 het 634.81 89 6 49701439 . C A 634.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.755;DP=89;Dels=0.00;FS=2.246;HRun=0;HaplotypeScore=0.8941;MQ=58.49;MQ0=0;MQRankSum=-0.223;QD=7.13;ReadPosRankSum=-0.188;VQSLOD=5.1560;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,29:89:99:665,0,1624 6 49701523 49701523 A G exonic CRISP3 nonsynonymous SNV CRISP3:NM_001190986:exon5:c.T385C:p.S129P,CRISP3:NM_006061:exon5:c.T355C:p.S119P 0.68 0.74 0.76 0.55 0.69 0.64 0.6800 0.7502 0.7844 0.5132 0.6678 0.6766 0.6865 0.6679 0.7 0.74 0.67 0.74 0.66 rs495335 COSM3762122;COSM3762121 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.341 N 1 0.090 P -1.665 0.004 N 3.06 0.087 T 6.13 0.000 N 0.058 0.382 -0.980 0.350 T 0.010 0.035 T . . . -0.186 0.077 1.176 0.520 0.046 0.000 0.004 N c -1.292 -1.141 1.000 0.451 0.487 0.133 0 5.1 0.688 2.659 0.462 -0.065 0.121 0.586 0.274 0.003 0.074 9.818 0.398 CAP domain ENSG00000124490.9 Whole_Blood 0.6822 0.7497 0.7719 0.7670 0.5040 0.6607 0.6722 0.6957 0.6729 0.6824 0.7533 0.7399 0.7567 0.4883 0.6549 0.6654 0.6575 het 1308.51 133 6 49701523 . A G 1308.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.657;DP=133;Dels=0.00;FS=1.385;HRun=2;HaplotypeScore=3.9544;MQ=58.57;MQ0=0;MQRankSum=0.463;QD=9.84;ReadPosRankSum=-0.504;VQSLOD=5.5361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,56:133:99:1339,0,2083 6 49928116 49928116 G A exonic DEFB114 synonymous SNV DEFB114:NM_001037499:exon2:c.C99T:p.Y33Y 0.059 0.027 0.065 0.0079 0.13 0.081 0.0959 0.0422 0.0503 0.0110 0.1789 0.1214 0.1094 0.0688 0.1 0.047 0.13 0.033 0.11 rs17736782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0963 0.0376 0.0531 0.0701 0.0112 0.1812 0.1225 0.1085 0.0691 0.1111 0.0420 0.0639 0.0596 0.0146 0.1904 0.1442 0.1520 het 423.41 40 6 49928116 . G A 423.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.352;DP=40;Dels=0.00;FS=6.884;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-1.571;QD=10.59;ReadPosRankSum=1.706;VQSLOD=3.9118;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,19:40:99:453,0,546 6 49931783 49931783 A G exonic DEFB114 synonymous SNV DEFB114:NM_001037499:exon1:c.T36C:p.Y12Y 0.067 0.052 0.069 0.0079 0.13 0.081 0.0977 0.0608 0.0512 0.0109 0.1786 0.1217 0.1104 0.0687 0.11 0.066 0.13 0.043 0.11 rs73737276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0956 0.0548 0.0508 0.0687 0.0106 0.1806 0.1197 0.1050 0.0656 0.1157 0.0579 0.0659 0.0596 0.0147 0.1918 0.1440 0.1527 het 244.87 24 6 49931783 . A G 244.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.491;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.44;MQ0=0;MQRankSum=0.375;QD=10.20;ReadPosRankSum=-1.184;VQSLOD=5.8159;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:275,0,277 6 50683009 50683009 T C exonic TFAP2D nonsynonymous SNV TFAP2D:NM_172238:exon2:c.T220C:p.F74L 0.08 0.0045 0.027 0.18 0.12 0.074 0.0900 0.0158 0.0422 0.1984 0.1860 0.0895 0.0980 0.0772 0.064 0.019 0.087 0.065 0.11 rs78648104 COSM4004067 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.182 0.218 T 0.805 0.432 P 0.827 0.576 P 0.002 0.367 N 0.000 0.588 P 0 0.065 N -4.18 0.969 D -0.39 0.136 N 0.424 0.480 0.694 0.931 D 0.768 0.921 D . . . 1.434 0.235 12.97 0.931 0.222 0.969 0.714 D c 0.377 0.465 1.000 0.747 0.598 0.340 0 5.07 0.680 7.774 0.841 0.964 0.580 1.000 0.715 1.000 0.888 15.124 0.720 . . . 0.0939 0.0135 0.0424 0.1088 0.2003 0.1936 0.0864 0.0997 0.0794 0.0796 0.0134 0.0468 0.0795 0.2078 0.1875 0.0792 0.1045 het 2622.93 208 6 50683009 . T C 2622.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.391;DP=208;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5066;MQ=58.86;MQ0=0;MQRankSum=1.695;QD=12.61;ReadPosRankSum=0.077;VQSLOD=4.5271;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,98:208:99:2653,0,3216 6 51483961 51483961 T C exonic PKHD1 nonsynonymous SNV PKHD1:NM_138694:exon67:c.A12143G:p.Q4048R 0.57 0.45 0.6 0.61 0.55 0.66 0.5630 0.4771 0.6559 0.5727 0.5301 0.5453 0.5363 0.6326 0.53 0.48 0.55 0.6 0.43 rs9381994 COSM1445058 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign|Benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082526.6|RCV000325223.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . 0.515 0.074 T 0.031 0.188 B 0.024 0.190 B 0.000 0.454 D 0.996 0.232 P 1.5 0.380 L -2.08 0.860 D -0.75 0.210 N 0.13 0.149 -0.833 0.532 T 0.249 0.618 T . . . 2.843 0.402 21.6 0.987 0.441 0.258 0.226 N c -0.408 -0.284 0.088 0.161 0.487 0.133 0 3.95 0.448 0.422 0.209 1.061 0.807 0.649 0.279 0.948 0.423 5.389 0.154 . . . 0.5669 0.4761 0.6505 0.4982 0.5834 0.5289 0.5482 0.5596 0.6293 0.5314 0.4785 0.6372 0.4404 0.5793 0.5180 0.5544 0.5561 het 1039.94 95 6 51483961 . T C 1039.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.293;DP=95;Dels=0.00;FS=17.704;HRun=0;HaplotypeScore=3.4083;MQ=59.66;MQ0=0;MQRankSum=0.833;QD=10.95;ReadPosRankSum=0.939;VQSLOD=3.2574;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,46:95:99:1070,0,1321 6 51491884 51491884 T C exonic PKHD1 nonsynonymous SNV PKHD1:NM_138694:exon66:c.A11696G:p.Q3899R 0.55 0.46 0.59 0.58 0.54 0.64 0.5550 0.4797 0.6500 0.5441 0.5253 0.5390 0.5198 0.6207 0.52 0.48 0.55 0.6 0.42 rs4715227 COSM4004068 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082522.6|RCV000376208.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . 0.034 0.440 D 0.295 0.307 B 0.134 0.315 B 0.469 0.123 N 0.994 0.236 P 2.42 0.702 M -2.3 0.877 D -0.95 0.253 N 0.065 0.051 -0.438 0.708 T 0.392 0.746 T . . . 2.560 0.369 19.85 0.986 0.436 0.811 0.403 D c -0.132 -0.085 0.000 0.035 0.487 0.133 0 3.99 0.454 2.127 0.414 1.061 0.807 0.979 0.349 0.947 0.422 8.238 0.306 . . . 0.5591 0.4792 0.6464 0.4661 0.5578 0.5232 0.5442 0.5484 0.6162 0.5276 0.4809 0.6358 0.4139 0.5531 0.5117 0.5510 0.5420 het 1426.69 137 6 51491884 . T C 1426.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.597;DP=137;Dels=0.00;FS=2.216;HRun=1;HaplotypeScore=3.9053;MQ=57.85;MQ0=0;MQRankSum=1.291;QD=10.41;ReadPosRankSum=1.195;VQSLOD=4.8909;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,58:137:99:1457,0,2283 6 51613177 51613177 C T exonic PKHD1 synonymous SNV PKHD1:NM_138694:exon58:c.G9237A:p.A3079A,PKHD1:NM_170724:exon58:c.G9237A:p.A3079A 0.39 0.032 0.48 0.65 0.39 0.52 0.4041 0.0889 0.5820 0.7055 0.4108 0.3620 0.3833 0.4897 0.27 0.1 0.36 0.36 0.25 rs765525 COSM4415417;COSM4415418 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082591.6|RCV000351510.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4204 0.0857 0.5734 0.3301 0.7120 0.4212 0.3650 0.3835 0.4920 0.3231 0.0900 0.5465 0.3013 0.7070 0.4103 0.3806 0.3969 het 3944.70 247 6 51613177 . C T 3944.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.585;DP=247;DS;Dels=0.00;FS=0.520;HRun=0;HaplotypeScore=3.7513;MQ=59.24;MQ0=0;MQRankSum=-0.177;QD=15.97;ReadPosRankSum=-0.747;VQSLOD=5.9648;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:126,121:247:99:3291,0,3326 6 51720838 51720838 T C exonic PKHD1 synonymous SNV PKHD1:NM_138694:exon49:c.A7764G:p.L2588L,PKHD1:NM_170724:exon49:c.A7764G:p.L2588L 0.54 0.45 0.56 0.84 0.32 0.56 0.4339 0.4333 0.6653 0.8663 0.4419 0.3166 0.3954 0.5182 0.35 0.43 0.32 0.48 0.22 rs9349603 COSM3762125;COSM3762126 1(large_intestine) Benign|Benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082573.6|RCV000261112.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4445 0.4354 0.6571 0.2541 0.8698 0.4488 0.3149 0.3805 0.5173 0.4097 0.4303 0.6175 0.23 0.8684 0.4419 0.3332 0.4033 het 1617.86 122 6 51720838 . T C 1617.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.345;DP=122;Dels=0.00;FS=3.747;HRun=0;HaplotypeScore=3.7609;MQ=59.09;MQ0=0;MQRankSum=-1.114;QD=13.26;ReadPosRankSum=0.576;VQSLOD=5.3370;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,62:122:99:1648,0,1627 6 51732807 51732807 C T exonic PKHD1 synonymous SNV PKHD1:NM_138694:exon48:c.G7587A:p.G2529G,PKHD1:NM_170724:exon48:c.G7587A:p.G2529G 0.37 0.3 0.4 0.15 0.62 0.39 0.5067 0.3433 0.3058 0.1220 0.5003 0.6346 0.5576 0.4333 0.54 0.35 0.63 0.4 0.72 rs12210295 COSM1179828;COSM1179827 19(soft_tissue);1(prostate);1(thyroid) Benign|Benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082571.6|RCV000273935.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4995 0.3378 0.3116 0.7105 0.1186 0.4958 0.6334 0.5677 0.4368 0.4965 0.3548 0.3385 0.7467 0.1151 0.4986 0.6195 0.5551 het 406.65 45 6 51732807 . C T 406.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.517;DP=45;Dels=0.00;FS=2.699;HRun=0;HaplotypeScore=1.5983;MQ=59.45;MQ0=0;MQRankSum=0.925;QD=9.04;ReadPosRankSum=-1.908;VQSLOD=5.8361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,17:45:99:437,0,791 6 51875250 51875250 A C exonic PKHD1 nonsynonymous SNV PKHD1:NM_138694:exon35:c.T5608G:p.L1870V,PKHD1:NM_170724:exon35:c.T5608G:p.L1870V 0.96 0.84 0.99 1. 1. 1. 0.9872 0.8610 0.9933 1 1 0.9996 0.9956 0.9999 0.95 0.87 1. 0.97 0.99 rs2435322 . . Benign|Benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082560.6|RCV000329286.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.995 0.233 P -1.04 0.011 N -1.58 0.843 D 1.84 0.005 N 0.02 0.005 -0.947 0.414 T 0.115 0.409 T . . . 0.071 0.100 3.304 0.160 0.004 0.049 0.105 N c -0.626 -0.313 1.000 0.747 0.487 0.133 0 5.63 0.861 5.284 0.652 0.067 0.174 1.000 0.715 1.000 0.888 16.157 0.814 Immunoglobulin-like fold . . 0.9899 0.8587 0.9932 0.9991 1 1 0.9996 0.9942 0.9998 0.9613 0.8653 0.9928 0.9967 0.9994 1 0.9993 0.9939 hom 3676.13 120 6 51875250 . A C 3676.13 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8238;MQ=59.30;MQ0=0;QD=30.63;VQSLOD=8.7881;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3676,280,0 6 51890823 51890823 G A exonic PKHD1 nonsynonymous SNV PKHD1:NM_138694:exon32:c.C3785T:p.A1262V,PKHD1:NM_170724:exon32:c.C3785T:p.A1262V 0.35 0.11 0.59 0.38 0.5 0.35 0.4698 0.1530 0.6659 0.3563 0.4823 0.5251 0.4579 0.3601 0.39 0.15 0.52 0.34 0.47 rs9296669 COSM4004073;COSM4004072 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082549.6|RCV000282648.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . 0.711 0.041 T 0.0 0.026 B 0.0 0.040 B 0.035 0.018 N 1 0.090 P -0.255 0.038 N -2.01 0.868 D -0.13 0.090 N 0.019 0.004 -0.956 0.400 T 0.090 0.347 T . . . -0.556 0.052 0.160 0.899 0.186 0.057 0.114 N c -1.315 -1.272 0.005 0.110 0.487 0.133 0 -1.36 0.086 0.314 0.190 -0.097 0.117 0.000 0.063 0.000 0.016 0.749 0.009 IPT domain|Immunoglobulin-like fold . . 0.4799 0.1502 0.6484 0.4817 0.3566 0.4801 0.5250 0.5068 0.3599 0.4145 0.1584 0.5998 0.4967 0.3528 0.4920 0.5332 0.5204 het 1299.46 80 6 51890823 . G A 1299.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.738;DP=80;Dels=0.00;FS=9.697;HRun=1;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=-0.342;QD=16.24;ReadPosRankSum=-1.183;VQSLOD=3.7487;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,45:80:99:1329,0,912 6 51910905 51910905 T C exonic PKHD1 nonsynonymous SNV PKHD1:NM_138694:exon24:c.A2489G:p.N830S,PKHD1:NM_170724:exon24:c.A2489G:p.N830S 0.064 0.0038 0.036 0.1 0.073 0.11 0.0679 0.0109 0.0306 0.1038 0.0960 0.0685 0.0683 0.0971 0.05 0.014 0.069 0.065 0.057 rs62406032 COSM4383323;COSM150104 1(stomach);1(soft_tissue);1(pancreas);1(large_intestine) Benign|Likely benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082541.6|RCV000318202.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . 0.11 0.291 T 0.041 0.200 B 0.011 0.145 B 0.082 0.208 N 1 0.090 P 1.9 0.507 L -2.03 0.871 D -1.85 0.433 N 0.005 0.000 -0.602 0.647 T 0.362 0.724 T . . . -0.698 0.045 0.073 0.798 0.125 0.239 0.220 N c -0.494 -0.491 1.000 0.462 0.487 0.133 0 3.67 0.411 0.983 0.289 1.061 0.807 0.760 0.290 0.923 0.397 4.923 0.131 . . . 0.0670 0.0104 0.0307 0.0515 0.1014 0.0922 0.0684 0.0608 0.0980 0.0585 0.0110 0.0418 0.0397 0.0958 0.0967 0.0738 0.0703 het 1305.44 125 6 51910905 . T C 1305.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.024;DP=125;Dels=0.00;FS=1.505;HRun=0;HaplotypeScore=0.0000;MQ=57.74;MQ0=0;MQRankSum=0.655;QD=10.44;ReadPosRankSum=-1.418;VQSLOD=4.4476;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,54:125:99:1335,0,1894 6 51914956 51914956 G A exonic PKHD1 nonsynonymous SNV PKHD1:NM_138694:exon22:c.C2278T:p.R760C,PKHD1:NM_170724:exon22:c.C2278T:p.R760C 0.36 0.11 0.6 0.4 0.5 0.31 0.4652 0.1534 0.6698 0.3764 0.4809 0.5198 0.4633 0.3375 0.39 0.15 0.51 0.33 0.48 rs9370096 COSM4997945;COSM4997944 1(pancreas) Benign|Benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082536.6|RCV000278857.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . 0.226 0.202 T 0.013 0.154 B 0.004 0.093 B 0.102 0.198 N 0.007 0.418 P -0.49 0.026 N -2.06 0.874 D -1.0 0.264 N 0.081 0.074 -1.013 0.259 T 0.120 0.418 T . . . 2.395 0.349 18.79 0.960 0.279 0.017 0.053 N c -1.203 -1.136 1.000 0.467 0.526 0.212 0 -6.31 0.018 -0.479 0.066 -0.894 0.027 0.004 0.165 0.764 0.325 7.059 0.241 . . . 0.4771 0.1519 0.6531 0.4960 0.3798 0.4804 0.5183 0.5122 0.3373 0.4139 0.1596 0.6034 0.4967 0.3854 0.4917 0.5276 0.5244 het 1038.01 77 6 51914956 . G A 1038.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.011;DP=77;Dels=0.00;FS=4.669;HRun=0;HaplotypeScore=0.9578;MQ=59.10;MQ0=0;MQRankSum=-0.025;QD=13.48;ReadPosRankSum=0.341;VQSLOD=6.2005;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,39:77:99:1068,0,895 6 51921703 51921703 A G exonic PKHD1 synonymous SNV PKHD1:NM_138694:exon17:c.T1587C:p.N529N,PKHD1:NM_170724:exon17:c.T1587C:p.N529N 0.063 0.0038 0.036 0.1 0.073 0.11 0.0679 0.0110 0.0306 0.1033 0.0964 0.0685 0.0687 0.0972 0.05 0.014 0.069 0.065 0.057 rs62406036 COSM5019740;COSM5019739 1(soft_tissue) Benign|Likely benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082528.5|RCV000404038.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0669 0.0103 0.0307 0.0515 0.1010 0.0922 0.0684 0.0607 0.0980 0.0585 0.0110 0.0407 0.0397 0.0960 0.0965 0.0739 0.0695 het 701.70 79 6 51921703 . A G 701.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.347;DP=79;Dels=0.00;FS=3.493;HRun=0;HaplotypeScore=1.7128;MQ=59.15;MQ0=0;MQRankSum=-0.554;QD=8.88;ReadPosRankSum=-0.594;VQSLOD=5.6402;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,32:79:99:732,0,1258 6 51924774 51924774 A G exonic PKHD1 synonymous SNV PKHD1:NM_138694:exon15:c.T1185C:p.D395D,PKHD1:NM_170724:exon15:c.T1185C:p.D395D 0.96 0.85 0.99 1. 1. 1. 0.9883 0.8757 0.9927 1 1 0.9994 0.9956 0.9999 0.96 0.88 1. 0.97 0.98 rs1896976 . . Benign|Benign not_specified|Autosomal_recessive_polycystic_kidney_disease RCV000082524.6|RCV000169626.2 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085548:263200:ORPHA731:28770003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9906 0.8734 0.9925 0.9989 1 1 0.9994 0.9929 0.9998 0.9659 0.8815 0.9928 0.9967 1 1 0.9992 0.9939 hom 5403.61 180 6 51924774 . A G 5403.61 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.713;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9439;MQ=59.46;MQ0=0;MQRankSum=-0.635;QD=30.02;ReadPosRankSum=1.020;VQSLOD=8.4529;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,179:180:99:5403,406,0 6 52129484 52129484 C T exonic MCM3 nonsynonymous SNV MCM3:NM_001270472:exon16:c.G2359A:p.E787K,MCM3:NM_002388:exon17:c.G2464A:p.E822K 0.11 0.015 0.17 0.002 0.29 0.15 0.1988 0.0436 0.1120 0.0005 0.2259 0.2661 0.2214 0.1776 0.19 0.046 0.26 0.11 0.2 rs2230240 COSM5021527;COSM5021526 1(bone);1(pancreas) . . . . . . . . . . . 0.626 0.052 T 0.082 0.235 B 0.005 0.188 B 0.076 0.212 N 1.000 0.194 P 1.15 0.294 L 0.22 0.599 T -0.45 0.148 N 0.217 0.266 -1.022 0.231 T 0.070 0.286 T . . . 1.873 0.286 15.42 0.880 0.171 0.765 0.372 D c -0.059 -0.039 0.999 0.388 0.707 0.730 0 4.53 0.548 2.047 0.407 0.069 0.176 0.911 0.315 0.399 0.254 10.386 0.431 . . . 0.2002 0.0418 0.1284 0.2769 0.0005 0.2362 0.2662 0.2123 0.1775 0.1716 0.0475 0.1483 0.2881 0.0012 0.2282 0.2459 0.2035 het 4275.87 250 6 52129484 . C T 4275.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.932;DP=250;DS;Dels=0.00;FS=5.071;HRun=2;HaplotypeScore=7.3178;MQ=59.26;MQ0=0;MQRankSum=-0.428;QD=17.10;ReadPosRankSum=2.372;VQSLOD=3.4139;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3628,0,3056 6 52658962 52658962 T C exonic GSTA1 synonymous SNV GSTA1:NM_001319059:exon4:c.A96G:p.K32K,GSTA1:NM_145740:exon5:c.A375G:p.K125K 0.23 0.042 0.27 0.14 0.42 0.34 0.3437 0.0922 0.2051 0.1273 0.4342 0.4252 0.3601 0.3463 0.32 0.11 0.43 0.21 0.43 rs1051775 COSM4004077 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3438 0.0875 0.2115 0.4480 0.1241 0.4372 0.4226 0.3664 0.3479 0.3016 0.0963 0.2225 0.4305 0.1104 0.4257 0.4110 0.3622 hom 7513.98 224 6 52658962 . T C 7513.98 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8279;MQ=59.19;MQ0=0;QD=33.54;VQSLOD=8.8787;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:7513,587,0 6 52701143 52701143 C T exonic GSTA5 nonsynonymous SNV GSTA5:NM_153699:exon4:c.G163A:p.V55I 0.89 0.85 0.97 0.87 0.95 0.84 0.9306 0.8625 0.9762 0.8748 0.8975 0.9596 0.9328 0.8668 0.93 0.87 0.96 0.9 0.94 rs2397118 . . . . . . . . . . . . . 0.036 0.433 D 0.32 0.312 B 0.295 0.391 B 0.000 0.559 D 0.039 0.382 P 2.815 0.823 M 2.94 0.098 T -0.83 0.227 N 0.04 0.025 -1.125 0.020 T 0.024 0.104 T . . . 3.895 0.525 23.5 0.998 0.876 0.875 0.468 D c 0.018 0.005 0.000 0.035 0.487 0.133 0 2.63 0.303 4.377 0.591 0.873 0.381 1.000 0.715 0.998 0.697 10.674 0.448 Glutathione S-transferase\x2c N-terminal|Thioredoxin-like fold . . 0.9331 0.8628 0.9744 0.9759 0.8774 0.8927 0.9606 0.9446 0.8678 0.9184 0.8681 0.9690 0.9735 0.8910 0.8836 0.9547 0.9192 hom 5552.18 172 6 52701143 . C T 5552.18 Mask AC=2;AF=1.00;AN=2;DP=172;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.3785;MQ=59.18;MQ0=0;QD=32.28;VQSLOD=8.6715;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:172:99:5525,436,0 6 52849325 52849325 C T exonic GSTA4 synonymous SNV GSTA4:NM_001512:exon5:c.G351A:p.Q117Q 0.023 0.0023 0.019 . 0.056 0.043 0.0501 0.0111 0.0251 0.0003 0.0694 0.0689 0.0518 0.0343 0.05 0.014 0.068 0.033 0.082 rs1802061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0493 0.0099 0.0290 0.0774 0.0002 0.0645 0.0667 0.0510 0.0350 0.0456 0.0104 0.0346 0.0662 0.0006 0.0651 0.0651 0.0662 het 1937.46 168 6 52849325 . C T 1937.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.524;DP=168;Dels=0.00;FS=1.205;HRun=1;HaplotypeScore=0.9967;MQ=59.17;MQ0=0;MQRankSum=0.388;QD=11.53;ReadPosRankSum=2.078;VQSLOD=6.1649;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,79:168:99:1967,0,2448 6 52878637 52878637 T C exonic ICK synonymous SNV ICK:NM_014920:exon9:c.A975G:p.P325P,ICK:NM_016513:exon10:c.A975G:p.P325P 0.25 0.46 0.17 0.11 0.27 0.13 0.2471 0.4237 0.1582 0.1424 0.2947 0.2709 0.2423 0.1385 0.31 0.42 0.26 0.33 0.25 rs2297211 COSM150107 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2416 0.4238 0.1666 0.3107 0.1413 0.2848 0.2674 0.2571 0.1400 0.3100 0.4067 0.2105 0.3054 0.1420 0.2845 0.2851 0.2847 hom 2073.57 72 6 52878637 . T C 2073.57 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5445;MQ=58.38;MQ0=0;QD=28.80;VQSLOD=7.3558;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:72:99:2107,195,0 6 53516876 53516876 T G exonic KLHL31 synonymous SNV KLHL31:NM_001003760:exon3:c.A1425C:p.I475I 0.99 0.97 1. 1. 1. 1. 0.9971 0.9658 0.9982 1 0.9998 0.9998 0.9987 0.9999 0.99 0.96 1. 1. 0.82 rs6928338 COSM3749983 1(thyroid);9(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9975 0.9672 0.9974 0.9993 1 0.9999 0.9998 0.9986 0.9999 0.9898 0.9649 0.9976 1 1 1 0.9995 0.9990 hom 1035.59 33 6 53516876 . T G 1035.59 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.38;VQSLOD=13.4061;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:96.24:1069,96,0 6 53519062 53519062 A G exonic KLHL31 synonymous SNV KLHL31:NM_001003760:exon2:c.T1009C:p.L337L 0.68 0.53 0.77 0.7 0.74 0.75 0.7312 0.5697 0.7405 0.7085 0.7919 0.7455 0.7660 0.7542 0.69 0.57 0.75 0.64 0.81 rs10948758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7365 0.5676 0.7395 0.7752 0.7038 0.7950 0.7424 0.7529 0.7563 0.7074 0.5761 0.7506 0.8146 0.6852 0.7928 0.7579 0.7637 hom 3747.47 102 6 53519062 . A G 3747.47 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6281;MQ=59.32;MQ0=0;QD=36.74;VQSLOD=9.2320;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,101:102:99:3747,298,0 6 53519605 53519605 C T exonic KLHL31 nonsynonymous SNV KLHL31:NM_001003760:exon2:c.G466A:p.V156I 0.86 0.82 0.87 0.92 0.8 0.92 0.8403 0.8140 0.8931 0.9082 0.8727 0.8114 0.8601 0.8866 0.82 0.82 0.82 0.86 0.86 rs3799260 . . . . . . . . . . . . . 0.249 0.172 T 0.309 0.310 B 0.197 0.350 B 0.000 0.843 D 0.000 0.483 P 1.625 0.417 L -0.21 0.663 T 0.21 0.048 N 0.131 0.195 -0.910 0.468 T 0.153 0.484 T . . . 2.419 0.352 18.94 0.987 0.445 0.942 0.600 D c 0.190 0.360 1.000 0.747 0.554 0.246 0 6.03 0.978 4.974 0.633 0.935 0.490 1.000 0.715 1.000 0.888 15.612 0.764 BTB/POZ domain|SKP1/BTB/POZ domain . . 0.8442 0.8151 0.8889 0.8099 0.9107 0.8733 0.8098 0.8444 0.8871 0.8345 0.8198 0.8807 0.8367 0.9078 0.8598 0.8248 0.8635 hom 4397.22 129 6 53519605 . C T 4397.22 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=34.09;VQSLOD=9.5623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4397,358,0 6 53519857 53519857 G A exonic KLHL31 synonymous SNV KLHL31:NM_001003760:exon2:c.C214T:p.L72L 0.49 0.17 0.67 0.6 0.59 0.58 0.5738 0.2334 0.6568 0.6163 0.6226 0.6007 0.5892 0.5790 0.48 0.24 0.61 0.43 0.56 rs12210809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5869 0.2299 0.6521 0.6342 0.6095 0.6304 0.6000 0.6070 0.5825 0.5174 0.2425 0.6411 0.6490 0.5884 0.6395 0.6261 0.6061 het 1293.20 110 6 53519857 . G A 1293.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.380;DP=110;Dels=0.00;FS=2.602;HRun=1;HaplotypeScore=6.1078;MQ=59.37;MQ0=0;MQRankSum=-0.496;QD=11.76;ReadPosRankSum=0.838;VQSLOD=4.8245;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:60,50:110:99:1323,0,1768 6 53883843 53883843 G A exonic MLIP nonsynonymous SNV MLIP:NM_001281746:exon1:c.G17A:p.R6H,MLIP:NM_138569:exon1:c.G17A:p.R6H 0.2 0.17 0.4 0.058 0.29 0.14 0.2531 0.1902 0.4100 0.0619 0.2767 0.2769 0.2677 0.1765 0.25 0.18 0.28 0.2 0.23 rs17625497 COSM5654075 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.353 0.122 T 0.0 0.026 B 0.0 0.013 B 0.811 0.068 N 0.999 0.215 P -0.895 0.014 N 1.86 0.245 T 1.81 0.013 N 0.075 0.065 -0.941 0.425 T 0.005 0.016 T . . . 2.246 0.331 17.81 0.812 0.131 0.045 0.100 N c -0.846 -0.541 1.000 0.473 0.487 0.133 0 3.46 0.386 3.759 0.547 -0.117 0.114 1.000 0.715 0.997 0.653 7.522 0.266 . . . 0.2608 0.1834 0.4082 0.2682 0.0572 0.2850 0.2742 0.2946 0.1777 0.2386 0.1922 0.3735 0.2914 0.0515 0.2733 0.2667 0.2756 het 402.10 46 6 53883843 . G A 402.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.434;DP=46;Dels=0.00;FS=4.427;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;MQRankSum=1.070;QD=8.74;ReadPosRankSum=-0.455;VQSLOD=5.8177;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,17:46:99:432,0,692 6 53989526 53989526 G A exonic MLIP nonsynonymous SNV MLIP:NM_001281746:exon3:c.G475A:p.V159I,MLIP:NM_001281747:exon3:c.G508A:p.V170I,MLIP:NM_138569:exon3:c.G475A:p.V159I 0.62 0.47 0.51 0.73 0.65 0.74 0.6302 0.4924 0.4572 0.6974 0.7126 0.6472 0.6145 0.7023 0.59 0.5 0.64 0.7 0.52 rs4712056 . . . . . . . . . . . . . 0.384 0.245 T 0.058 0.276 B 0.025 0.218 B 0.396 0.045 N 1 0.090 P 0 0.065 N 1.4 0.336 T -0.63 0.229 N 0.055 0.238 -1.053 0.136 T 0.014 0.054 T . . . -1.623 0.014 0.002 0.821 0.135 0.014 0.046 N c -1.409 -1.510 0.087 0.160 0.615 0.352 0 -7.97 0.010 -0.567 0.060 -0.875 0.028 0.000 0.063 0.005 0.090 1.127 0.016 . . . 0.6274 0.4946 0.4696 0.6387 0.7013 0.7065 0.6442 0.6191 0.7039 0.6077 0.4974 0.4712 0.6457 0.6993 0.6963 0.6461 0.6421 het 1495.76 110 6 53989526 . G A 1495.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.066;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7498;MQ=59.24;MQ0=0;MQRankSum=-0.543;QD=13.60;ReadPosRankSum=-0.495;VQSLOD=5.6483;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,60:110:99:1526,0,1424 6 54054686 54054686 T A exonic MLIP nonsynonymous SNV MLIP:NM_138569:exon9:c.T958A:p.S320T,MLIP:NM_001281746:exon10:c.T2530A:p.S844T,MLIP:NM_001281747:exon10:c.T2563A:p.S855T 0.8 0.61 0.84 0.81 0.92 0.88 0.8795 0.6633 0.8371 0.7754 0.9516 0.9354 0.8678 0.8460 0.85 0.68 0.94 0.79 0.91 rs6934690 . . . . . . . . . . . . . 0.387 0.156 T 0.982 0.581 D 0.831 0.578 P 0.019 0.274 N 1 0.196 P 1.295 0.326 L 1.08 0.394 T -0.82 0.318 N 0.156 0.533 -1.028 0.211 T 0.089 0.344 T . . . 3.537 0.483 23.1 0.969 0.311 0.113 0.164 N c -0.035 -0.072 0.296 0.191 0.638 0.428 0 4.29 0.502 1.031 0.296 1.011 0.635 0.014 0.188 0.850 0.355 8.096 0.298 . . . 0.8820 0.6662 0.8372 0.8408 0.7766 0.9504 0.9407 0.8829 0.8474 0.8543 0.6740 0.8254 0.8179 0.7739 0.9399 0.9465 0.9090 het 857.57 91 6 54054686 . T A 857.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.285;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8153;MQ=58.08;MQ0=0;MQRankSum=1.456;QD=9.42;ReadPosRankSum=-0.878;VQSLOD=4.6285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,39:91:99:888,0,1205 6 54186147 54186147 T C exonic TINAG nonsynonymous SNV TINAG:NM_014464:exon3:c.T472C:p.S158P 0.74 0.82 0.62 0.85 0.7 0.63 0.6839 0.7987 0.6033 0.8450 0.7307 0.6654 0.7053 0.6382 0.7 0.78 0.66 0.73 0.67 rs1058768 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.481 N 1.000 0.588 P -2.05 0.002 N 1.09 0.392 T 3.54 0.002 N 0.157 0.188 -0.981 0.348 T 0.007 0.025 T . . . 0.998 0.190 10.65 0.258 0.012 0.014 0.047 N c -0.944 -0.616 0.001 0.074 0.487 0.133 0 5.53 0.825 1.702 0.372 0.069 0.176 0.918 0.317 0.877 0.367 10.639 0.446 . . . 0.6822 0.7975 0.6033 0.7585 0.8435 0.7278 0.6585 0.6895 0.6476 0.7134 0.7882 0.6277 0.7285 0.8455 0.7353 0.6578 0.6708 het 1176.73 78 6 54186147 . T C 1176.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.034;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.52;MQ0=0;MQRankSum=-0.423;QD=15.09;ReadPosRankSum=1.133;VQSLOD=6.2748;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,47:78:99:1207,0,781 6 54735122 54735122 A G exonic FAM83B synonymous SNV FAM83B:NM_001010872:exon2:c.A78G:p.E26E 0.34 0.34 0.32 0.15 0.51 0.37 0.4421 0.3969 0.2855 0.1329 0.5095 0.5173 0.4194 0.4123 0.47 0.4 0.51 0.4 0.49 rs1472679 COSM4004082 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4310 0.3998 0.2869 0.4735 0.1275 0.5065 0.5116 0.4494 0.4104 0.4646 0.4029 0.3106 0.4338 0.1221 0.5089 0.5332 0.5123 het 2117.31 183 6 54735122 . A G 2117.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.766;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6796;MQ=58.85;MQ0=0;MQRankSum=0.010;QD=11.57;ReadPosRankSum=0.743;VQSLOD=6.2210;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,81:183:99:2147,0,2864 6 55142337 55142337 A G exonic HCRTR2 nonsynonymous SNV HCRTR2:NM_001526:exon6:c.A922G:p.I308V 0.88 0.89 0.88 0.94 0.82 0.87 0.8393 0.8871 0.8911 0.9455 0.8120 0.8058 0.8620 0.8622 0.82 0.88 0.79 0.91 0.86 rs2653349 COSM5654076 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 0.998 0.222 P -0.985 0.012 N 1.36 0.344 T 0.49 0.030 N 0.092 0.091 -1.041 0.169 T 0.014 0.057 T . . . 1.225 0.213 11.88 0.768 0.112 0.151 0.185 N c -0.450 -0.140 1.000 0.747 0.487 0.133 0 6.06 0.983 7.561 0.811 0.138 0.222 1.000 0.715 0.999 0.750 15.685 0.771 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000168143.8 Muscle_Skeletal 0.8423 0.8926 0.8960 0.8921 0.9457 0.8126 0.7986 0.8375 0.8653 0.8399 0.8875 0.8783 0.9305 0.9332 0.8225 0.8033 0.8238 het 791.28 89 6 55142337 . A G 791.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.158;DP=89;Dels=0.00;FS=7.444;HRun=1;HaplotypeScore=2.8465;MQ=58.85;MQ0=0;MQRankSum=0.908;QD=8.89;ReadPosRankSum=-1.616;VQSLOD=4.2501;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,31:89:99:821,0,1499 6 55196587 55196587 C T exonic GFRAL nonsynonymous SNV GFRAL:NM_207410:exon2:c.C97T:p.R33C 0.41 0.43 0.26 0.31 0.37 0.66 0.3886 0.4201 0.2143 0.2838 0.3445 0.3740 0.4144 0.6201 0.38 0.4 0.36 0.34 0.35 rs12199003 COSM3762142 1(bone);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.111 0.290 T 0.712 0.402 P 0.157 0.329 B 0.448 0.125 N 1 0.090 P 0.895 0.225 L 1.47 0.320 T -1.52 0.370 N 0.122 0.137 -1.012 0.263 T 0.012 0.046 T . . . 1.776 0.274 14.85 0.933 0.224 0.017 0.053 N c -0.984 -1.044 0.000 0.029 0.487 0.133 0 1.07 0.193 0.300 0.188 -0.698 0.038 0.001 0.137 0.001 0.043 5.458 0.158 GDNF/GAS1 . . 0.3812 0.4153 0.2179 0.5238 0.2863 0.3507 0.3682 0.3917 0.6176 0.3749 0.4195 0.2685 0.54 0.2857 0.3518 0.3655 0.3906 het 814.82 83 6 55196587 . C T 814.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.428;DP=83;Dels=0.00;FS=3.033;HRun=0;HaplotypeScore=2.7888;MQ=58.85;MQ0=1;MQRankSum=-0.095;QD=9.82;ReadPosRankSum=0.236;VQSLOD=6.1037;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,33:83:99:845,0,1180 6 55266625 55266625 T C exonic GFRAL nonsynonymous SNV GFRAL:NM_207410:exon9:c.T1159C:p.S387P 0.69 0.55 0.81 0.8 0.73 0.66 0.7082 0.5776 0.7589 0.7778 0.6447 0.7317 0.6954 0.6498 0.69 0.59 0.74 0.73 0.36 rs9370418 COSM1685468 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.280 0.038 N 1 0.090 P -0.895 0.014 N 1.35 0.346 T 1.58 0.007 N 0.043 0.023 -1.034 0.193 T 0.012 0.046 T . . . -1.014 0.031 0.015 0.057 0.000 0.000 0.004 N c -1.462 -1.415 0.000 0.029 0.487 0.133 0 0.877 0.182 -0.589 0.058 -0.302 0.080 0.000 0.063 0.003 0.074 8.738 0.335 . . . 0.7078 0.5747 0.7576 0.6263 0.7747 0.6379 0.7373 0.7052 0.6547 0.6717 0.5797 0.7470 0.5497 0.7710 0.6429 0.7204 0.6551 hom 2975.49 102 6 55266625 . T C 2975.49 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8681;MQ=57.66;MQ0=0;QD=29.17;VQSLOD=5.8527;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3008,226,0 6 55443830 55443830 C T exonic HMGCLL1 synonymous SNV HMGCLL1:NM_001042406:exon1:c.G24A:p.V8V,HMGCLL1:NM_001287741:exon1:c.G24A:p.V8V,HMGCLL1:NM_001287753:exon1:c.G24A:p.V8V,HMGCLL1:NM_019036:exon1:c.G24A:p.V8V . . . . . . 0.0013 0 0 0 0.0004 0.0023 0 0 0.0011 0.0002 0.0016 . . rs202041427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0 0 0.0005 0 0.0001 0.0016 0.0009 0 0.0007 0.0002 0 0 0 0 0.0012 0.0010 het 1019.28 69 6 55443830 . C T 1019.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.836;DP=69;Dels=0.00;FS=3.539;HRun=2;HaplotypeScore=4.5147;MQ=59.12;MQ0=0;MQRankSum=-0.347;QD=14.77;ReadPosRankSum=1.445;VQSLOD=3.3894;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,42:69:99:1049,0,657 6 55739553 55739553 A G exonic BMP5 synonymous SNV BMP5:NM_001329754:exon1:c.T111C:p.S37S,BMP5:NM_001329756:exon1:c.T111C:p.S37S,BMP5:NM_021073:exon1:c.T111C:p.S37S 0.44 0.63 0.53 0.19 0.46 0.34 0.4327 0.6130 0.5095 0.1738 0.4828 0.4366 0.4559 0.3635 0.49 0.6 0.43 0.51 0.36 rs3734444 COSM3762144 1(bone);2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4327 0.6131 0.5105 0.4821 0.1666 0.4841 0.4298 0.4531 0.3615 0.4765 0.6040 0.5012 0.5265 0.1626 0.4954 0.4319 0.4274 het 2280.34 189 6 55739553 . A G 2280.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.782;DP=189;Dels=0.00;FS=4.210;HRun=0;HaplotypeScore=2.4530;MQ=58.74;MQ0=0;MQRankSum=1.195;QD=12.07;ReadPosRankSum=-1.583;VQSLOD=5.4260;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:105,84:189:99:2310,0,2731 6 56044578 56044578 T C exonic COL21A1 synonymous SNV COL21A1:NM_001318752:exon3:c.A438G:p.K146K,COL21A1:NM_030820:exon3:c.A438G:p.K146K,COL21A1:NM_001318751:exon4:c.A438G:p.K146K 0.69 0.62 0.57 0.86 0.63 0.76 0.6620 0.6151 0.6157 0.8859 0.6400 0.6362 0.6637 0.7179 0.64 0.64 0.65 0.61 . rs2038149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6580 0.6194 0.6151 0.6184 0.8842 0.6401 0.6340 0.6493 0.7117 0.6492 0.6214 0.6244 0.6258 0.8900 0.6326 0.6449 0.6510 het 945.89 77 6 56044578 . T C 945.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.735;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6305;MQ=59.10;MQ0=0;MQRankSum=1.184;QD=12.28;ReadPosRankSum=-0.126;VQSLOD=6.6001;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,34:77:99:976,0,1327 6 56327849 56327849 C T exonic DST nonsynonymous SNV DST:NM_015548:exon82:c.G15124A:p.A5042T,DST:NM_183380:exon92:c.G16102A:p.A5368T,DST:NM_001144770:exon93:c.G16222A:p.A5408T,DST:NM_001144769:exon95:c.G16636A:p.A5546T 0.22 0.08 0.25 0.24 0.25 0.33 0.2455 0.1042 0.2445 0.2301 0.1553 0.2589 0.2998 0.3210 0.21 0.1 0.26 0.24 . rs11758339 COSM4417657 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B . . . . . . . . . 1.07 0.396 T 0.67 0.023 N 0.001 0.000 -0.971 0.369 T 0.015 0.060 T . . . 1.526 0.245 13.45 0.780 0.117 0.891 0.491 D c -0.648 -0.442 0.003 0.095 0.732 0.924 0 1.9 0.247 0.242 0.177 0.852 0.362 0.939 0.324 0.998 0.697 7.175 0.248 . . . 0.2462 0.1006 0.2509 0.3772 0.2283 0.1586 0.2544 0.2829 0.3107 0.1923 0.0965 0.2673 0.3933 0.2163 0.1666 0.2394 0.2505 het 1212.82 116 6 56327849 . C T 1212.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.648;DP=116;Dels=0.00;FS=2.766;HRun=0;HaplotypeScore=4.5607;MQ=60.00;MQ0=0;MQRankSum=-0.729;QD=10.46;ReadPosRankSum=-0.356;VQSLOD=4.8869;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,51:116:99:1243,0,1767 6 56417282 56417282 C T exonic DST nonsynonymous SNV DST:NM_015548:exon42:c.G8439A:p.M2813I,DST:NM_183380:exon52:c.G9417A:p.M3139I,DST:NM_001144770:exon53:c.G9537A:p.M3179I,DST:NM_001144769:exon55:c.G9951A:p.M3317I 0.79 0.93 0.76 0.79 0.75 0.67 0.7601 0.9089 0.7573 0.7978 0.8372 0.7435 0.7189 0.6928 0.79 0.91 0.74 0.79 . rs4715630 . . . . . . . . . . . . . 0.502 0.249 T 0.0 0.026 B 0.0 0.040 B 0.001 0.405 N . . . -0.875 0.014 N 1.38 0.340 T -0.04 0.093 N 0.11 0.144 -0.997 0.307 T 0.007 0.022 T . . . 0.351 0.128 6.176 0.864 0.160 0.042 0.096 N c -1.532 -1.498 1.000 0.747 0.707 0.730 0 -8.74 0.007 -0.386 0.074 -0.208 0.100 0.001 0.137 0.993 0.574 5.241 0.147 . . . 0.7577 0.9117 0.7533 0.6446 0.8023 0.8312 0.7455 0.7286 0.6936 0.8125 0.9140 0.7494 0.6324 0.8160 0.8249 0.7609 0.7556 hom 1499.42 45 6 56417282 . C T 1499.42 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5650;MQ=58.97;MQ0=0;QD=33.32;VQSLOD=9.4812;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1532,123,0 6 56417545 56417545 T C exonic DST nonsynonymous SNV DST:NM_015548:exon42:c.A8176G:p.T2726A,DST:NM_183380:exon52:c.A9154G:p.T3052A,DST:NM_001144770:exon53:c.A9274G:p.T3092A,DST:NM_001144769:exon55:c.A9688G:p.T3230A 0.66 0.61 0.72 0.65 0.72 0.64 0.7040 0.6325 0.7354 0.6586 0.8251 0.7126 0.6882 0.6655 0.68 0.64 0.7 0.69 . rs4715631 COSM1445315;COSM1445314 1(oesophagus) . . . . . . . . . . . 1.0 0.210 T 0.002 0.119 B 0.003 0.179 B 0.011 0.295 N . . . 1.275 0.323 L 1.58 0.291 T -0.97 0.270 N 0.07 0.456 -0.973 0.365 T 0.015 0.062 T . . . -1.048 0.030 0.013 0.822 0.136 0.457 0.273 N c -0.629 -0.496 1.000 0.480 0.719 0.830 0 2.39 0.284 2.744 0.469 1.061 0.807 1.000 0.715 0.998 0.697 8.553 0.324 . . . 0.7026 0.6294 0.7279 0.5952 0.6534 0.8181 0.7122 0.6889 0.6654 0.7044 0.6324 0.7129 0.6026 0.6660 0.8140 0.7255 0.7182 hom 1916.07 60 6 56417545 . T C 1916.07 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.17;MQ0=0;QD=31.93;VQSLOD=8.6372;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1949,153,0 6 56497826 56497826 T C exonic DST nonsynonymous SNV DST:NM_001723:exon14:c.A2020G:p.M674V,DST:NM_015548:exon14:c.A2020G:p.M674V,DST:NM_183380:exon24:c.A2998G:p.M1000V,DST:NM_001144770:exon25:c.A3118G:p.M1040V,DST:NM_001144769:exon27:c.A3532G:p.M1178V . . . . . . 2.474e-05 0 0 0 0 4.499e-05 0 0 . . . . . rs779677898 . . . . . . . . . . . . . 0.099 0.632 T 0.07 0.456 B 0.016 0.575 B 0.000 0.629 D . . . 2.505 0.732 M 0.81 0.841 T -2.43 0.635 N 0.633 0.753 0.074 0.837 D 0.532 0.827 D 0.032 0.539 D 1.517 0.244 13.40 0.991 0.512 0.903 0.511 D c 0.229 0.344 1.000 0.747 0.707 0.730 0 5.69 0.883 3.668 0.540 1.061 0.807 1.000 0.715 0.998 0.697 8.088 0.298 . . . 3.251e-05 0 0 0.0006 0 0 8.958e-06 0 3.249e-05 6.459e-05 0.0001 0 0.0033 0 0 0 0 het 938.04 88 6 56497826 . T C 938.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.042;DP=88;Dels=0.00;FS=2.837;HRun=0;HaplotypeScore=2.7321;MQ=59.48;MQ0=0;MQRankSum=0.105;QD=10.66;ReadPosRankSum=0.737;VQSLOD=4.7001;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,38:88:99:968,0,1333 6 56569104 56569104 A G exonic DST synonymous SNV DST:NM_183380:exon3:c.T217C:p.L73L,DST:NM_001144770:exon4:c.T337C:p.L113L,DST:NM_001144769:exon6:c.T751C:p.L251L 0.16 0.32 0.15 0.019 0.22 0.05 0.2671 0.3948 0.2821 0.0513 0.2545 0.3261 0.2339 0.0884 0.23 0.32 0.2 0.29 . rs16888128 COSM3721581;COSM3721580 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1582 0.3054 0.0978 0.1463 0.0212 0.1742 0.2034 0.1718 0.0653 0.2303 0.3262 0.1253 0.1457 0.0222 0.1860 0.2154 0.2228 het 77.78 12 6 56569104 . A G 77.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.831;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=2.141;QD=6.48;ReadPosRankSum=-0.689;VQSLOD=10.2700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,5:12:99:108,0,152 6 57244780 57244780 G A exonic PRIM2 unknown UNKNOWN . . . . . . 0.5000 0.5003 0.5008 0.4998 0.5003 0.5001 0.4981 0.4994 . . . 0.49 . rs5011403 COSM4591442 23(upper_aerodigestive_tract);3(large_intestine) . . . . . . . . . . . . . . 0.066 0.221 B 0.002 0.093 B . . . . . . . . . . . . . . . 0.645 0.660 . . . . . . . . . 2.023 0.304 16.36 0.759 0.109 0.855 0.444 D n 1.436 0.112 1.000 0.747 0.322 0.047 0 5.87 0.942 3.569 0.533 0.955 0.563 0.988 0.363 0.554 0.280 16.073 0.807 . . . 0.4995 0.4999 0.5000 0.4997 0.4989 0.4999 0.4991 0.4996 0.4996 0.4158 0.4939 0.4880 0.2075 0.4981 0.4997 0.3379 0.4602 het 145.35 15 6 57244780 . G A 145.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.340;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.772;QD=9.69;ReadPosRankSum=-1.220;VQSLOD=10.2136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:175,0,162 6 57246884 57246884 A G exonic PRIM2 unknown UNKNOWN . . . . . . 0.4999 0.5 0.4999 0.4987 0.5 0.5 0.5 0.5 . . . 0.49 . rs6913546 COSM4590451 23(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B . . . . . . . . . . . . . . . 0.225 0.276 . . . . . . . . . 1.528 0.246 13.46 0.742 0.103 0.542 0.293 D n 1.191 0.066 1.000 0.454 0.295 0.044 0 -0.211 0.125 0.573 0.232 0.099 0.198 0.831 0.299 0.998 0.697 6.942 0.235 . . . 0.4999 0.5 0.4999 0.5 0.4994 0.5 0.4999 0.5 0.5 0.4127 0.4937 0.4869 0.2020 0.4981 0.4997 0.3329 0.4611 het 1085.05 87 6 57246884 . A G 1085.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.859;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=58.35;MQ0=0;MQRankSum=2.152;QD=12.47;ReadPosRankSum=-0.599;VQSLOD=5.0484;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,43:87:99:1115,0,1168 6 57393112 57393112 T C exonic PRIM2 unknown UNKNOWN . . . . . . 0.1698 0.0440 0.3078 0.3172 0.1975 0.1692 0.1529 0.1594 0.037 0.013 0.048 0.022 . rs11964288 COSM150111 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1026 0.0165 0.1723 0.0734 0.1998 0.0939 0.0881 0.0988 0.0913 0.0677 0.0097 0.1224 0.0878 0.1903 0.0717 0.0920 0.0709 het 30.04 11 6 57393112 . T C 30.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.106;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.64;MQ0=0;MQRankSum=-0.382;QD=2.73;ReadPosRankSum=0.382;VQSLOD=3.8184;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,3:11:60.03:60,0,191 6 57393125 57393125 A G exonic PRIM2 unknown UNKNOWN . . . . . . 0.5028 0.5017 0.5044 0.5054 0.5029 0.5025 0.5038 0.5021 . . . 0.38 . rs927192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5010 0.5010 0.5008 0.5003 0.5016 0.5008 0.5011 0.5006 0.5013 0.5001 0.5001 0.5 0.5 0.5006 0.5 0.5 0.5 hom 326.98 13 6 57393125 . A G 326.98 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.34;MQ0=0;QD=25.15;VQSLOD=6.7718;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:27.06:360,27,0 6 57398186 57398186 - A exonic PRIM2 unknown UNKNOWN . . . . . . 0.1868 0.1873 0.0965 0.1289 0.1127 0.1555 0.2258 0.3570 . . . . . rs386407218 COSM1745432 1(urinary_tract);1(thyroid);22(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4625 0.4614 0.4378 0.4808 0.4387 0.4740 0.4695 0.4486 0.4643 0.3930 0.4805 0.4777 0.1773 0.4855 0.4964 0.3098 0.4477 het 1032.35 238 6 57398186 . G GA 1032.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.352;DP=238;DS;FS=10.326;HRun=4;HaplotypeScore=1758.4476;MQ=51.89;MQ0=0;MQRankSum=-5.910;QD=4.15;ReadPosRankSum=-1.490;set=variant2 GT:AD:DP:GQ:PL 0/1:204,45:238:99:1071,0,5499 6 57512476 57512476 G A exonic PRIM2 unknown UNKNOWN . . . . . . 0.5003 0.5001 0.5 0.5024 0.5 0.5002 0.5 0.5 . . . 0.38 . rs4307164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5003 0.5001 0.5000 0.5002 0.5010 0.5 0.5004 0.5002 0.5 0.4124 0.4937 0.4869 0.2020 0.4988 0.4997 0.3325 0.4603 het 1425.43 80 6 57512476 . G A 1425.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.326;DP=80;Dels=0.00;FS=4.463;HRun=0;HaplotypeScore=1.6646;MQ=59.34;MQ0=0;MQRankSum=2.080;QD=17.82;ReadPosRankSum=-1.351;VQSLOD=4.0451;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,54:80:99:1455,0,675 6 57512510 57512510 T G exonic PRIM2 unknown UNKNOWN 0.63 0.83 0.51 0.45 0.59 0.67 0.6987 0.8349 0.6116 0.6188 0.7114 0.6974 0.7009 0.7202 . . . 0.7 . rs4294007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6946 0.8398 0.6245 0.7391 0.6158 0.7026 0.6967 0.6799 0.7178 0.7236 0.8399 0.6408 0.6987 0.635 0.7147 0.6732 0.7219 hom 4742.57 145 6 57512510 . T G 4742.57 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=58.80;MQ0=0;QD=32.71;VQSLOD=8.5561;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4742,370,0 6 57512565 57512565 T C exonic PRIM2 unknown UNKNOWN . . . . . . 0.5002 0.5 0.5003 0.5029 0.5 0.5000 0.5 0.5 . . . 0.49 . rs4294008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5003 0.5001 0.5001 0.5 0.5013 0.5 0.5003 0.5004 0.5 0.4125 0.4938 0.4869 0.2020 0.4981 0.4997 0.3326 0.4603 het 5086.29 249 6 57512565 . T C 5086.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.706;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4101;MQ=58.56;MQ0=0;MQRankSum=1.601;QD=20.43;ReadPosRankSum=-0.491;VQSLOD=3.5298;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,144:249:99:4402,0,2803 6 62390916 62390916 T C exonic KHDRBS2 synonymous SNV KHDRBS2:NM_152688:exon9:c.A1002G:p.Q334Q,KHDRBS2:NM_001350622:exon10:c.A1053G:p.Q351Q 0.61 0.37 0.68 0.7 0.72 0.68 0.6707 0.4227 0.7090 0.6570 0.7518 0.6970 0.6867 0.6685 0.6 0.42 0.69 0.52 0.61 rs1204114 COSM5427477 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6757 0.4195 0.6950 0.6530 0.6516 0.7489 0.6966 0.6981 0.6710 0.6330 0.4253 0.6695 0.6533 0.6362 0.7582 0.7195 0.6694 het 825.72 74 6 62390916 . T C 825.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.118;DP=74;Dels=0.00;FS=0.889;HRun=0;HaplotypeScore=2.9678;MQ=57.98;MQ0=0;MQRankSum=1.140;QD=11.16;ReadPosRankSum=0.202;VQSLOD=5.5137;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,32:74:99:856,0,1056 6 62442604 62442604 A G exonic KHDRBS2 synonymous SNV KHDRBS2:NM_152688:exon7:c.T876C:p.Y292Y,KHDRBS2:NM_001350622:exon8:c.T927C:p.Y309Y 0.39 0.62 0.32 0.3 0.28 0.33 0.3326 0.5749 0.2982 0.3445 0.2511 0.3067 0.3183 0.3358 0.4 0.57 0.31 0.48 0.34 rs10484690 COSM3762151 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3265 0.5764 0.3086 0.3474 0.3493 0.2525 0.3062 0.3065 0.3328 0.3676 0.5734 0.3317 0.3510 0.3631 0.2426 0.2825 0.3299 het 1540.39 151 6 62442604 . A G 1540.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.167;DP=151;Dels=0.00;FS=0.616;HRun=0;HaplotypeScore=5.0003;MQ=59.75;MQ0=0;MQRankSum=0.989;QD=10.20;ReadPosRankSum=-0.888;VQSLOD=5.1357;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,68:151:99:1570,0,2028 6 62887099 62887099 C T exonic KHDRBS2 synonymous SNV KHDRBS2:NM_001350622:exon2:c.G210A:p.Q70Q,KHDRBS2:NM_152688:exon2:c.G210A:p.Q70Q 0.59 0.63 0.48 0.59 0.66 0.56 0.5928 0.6226 0.4010 0.5659 0.7202 0.6239 0.6289 0.5417 0.62 0.62 0.62 0.61 0.57 rs6921170 COSM3762152 1(haematopoietic_and_lymphoid_tissue);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5846 0.6222 0.4195 0.5681 0.5626 0.7194 0.6183 0.5889 0.5439 0.6263 0.6197 0.4746 0.5134 0.5424 0.7075 0.6309 0.6240 het 323.97 48 6 62887099 . C T 323.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.004;DP=48;Dels=0.00;FS=4.544;HRun=1;HaplotypeScore=0.0000;MQ=58.24;MQ0=0;MQRankSum=2.602;QD=6.75;ReadPosRankSum=-0.578;VQSLOD=3.5051;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,15:48:99:354,0,808 6 66044927 66044927 T C exonic EYS nonsynonymous SNV EYS:NM_198283:exon10:c.A1712G:p.Q571R,EYS:NM_001142800:exon11:c.A1712G:p.Q571R,EYS:NM_001142801:exon11:c.A1712G:p.Q571R,EYS:NM_001292009:exon11:c.A1712G:p.Q571R 0.12 0.0083 0.19 0.12 0.17 0.19 0.1569 0.0332 0.1619 0.1133 0.1788 0.1735 0.1486 0.1790 0.13 0.034 0.17 0.16 0.15 rs61753610 COSM3762154;COSM3762155 1(large_intestine) Benign|Likely benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000124950.1|RCV000322758.1 MedGen|MedGen CN169374|CN239466 . . . . . . 0.396 0.202 T 0.218 0.327 B 0.058 0.280 B . . . 1 0.090 P 0.625 0.159 N 1.99 0.217 T -1.06 0.277 N 0.073 0.077 -0.914 0.463 T 0.008 0.027 T . . . -1.035 0.031 0.013 0.943 0.240 0.472 0.277 N c -0.808 -0.787 0.000 0.012 0.487 0.133 0 2.23 0.271 1.652 0.367 0.833 0.339 0.994 0.380 0.218 0.221 6.730 0.224 EGF-like domain . . 0.1597 0.0297 0.1686 0.1413 0.1128 0.1808 0.1757 0.1447 0.1766 0.1321 0.0340 0.1803 0.1589 0.1142 0.1783 0.1748 0.1687 het 712.95 54 6 66044927 . T C 712.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.955;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=56.99;MQ0=0;MQRankSum=0.692;QD=13.20;ReadPosRankSum=0.813;VQSLOD=6.1318;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,27:54:99:743,0,687 6 69666684 69666684 A G exonic ADGRB3 nonsynonymous SNV ADGRB3:NM_001704:exon8:c.A1508G:p.N503S 0.91 0.91 0.9 0.92 0.86 0.94 0.8942 0.9220 0.9370 0.9066 0.8993 0.8686 0.9020 0.9413 0.88 0.92 0.86 0.94 0.84 rs1932618 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.005 0.104 B 0.000 0.843 N 0.817 0.289 P 2.075 0.572 M 0.67 0.522 T -0.75 0.210 N 0.053 0.035 -1.071 0.091 T 0.038 0.164 T . . . 1.413 0.233 12.86 0.382 0.025 0.203 0.208 N c -0.345 -0.142 0.102 0.164 0.487 0.133 0 5.19 0.713 5.622 0.672 0.138 0.222 1.000 0.715 0.998 0.697 10.524 0.439 GPCR\x2c family 2\x2c extracellular hormone receptor domain . . 0.8956 0.9207 0.9310 0.8963 0.9071 0.8963 0.8671 0.8896 0.9418 0.8951 0.9262 0.9224 0.8609 0.9171 0.8874 0.8757 0.8937 hom 4183.11 130 6 69666684 . A G 4183.11 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=59.99;MQ0=0;QD=32.18;VQSLOD=8.9316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4183,328,0 6 70071173 70071173 G A exonic ADGRB3 synonymous SNV ADGRB3:NM_001704:exon29:c.G4008A:p.P1336P 0.49 0.17 0.46 0.83 0.45 0.61 0.4824 0.2228 0.5236 0.8143 0.5147 0.4420 0.4867 0.5936 0.37 0.23 0.44 0.41 0.42 rs913543 COSM5425434;COSM5425435 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4862 0.2135 0.5097 0.3208 0.8163 0.5197 0.4458 0.4523 0.5910 0.4141 0.2178 0.4976 0.2848 0.8266 0.5140 0.4558 0.4684 hom 1263.76 40 6 70071173 . G A 1263.76 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=31.59;VQSLOD=9.6823;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1297,108,0 6 70407465 70407465 A T exonic LMBRD1 nonsynonymous SNV LMBRD1:NM_018368:exon14:c.T1407A:p.D469E 0.38 0.12 0.43 0.56 0.43 0.47 0.3920 0.1535 0.3830 0.5460 0.3411 0.4027 0.3932 0.4441 0.32 0.15 0.4 0.29 0.34 rs12648 COSM3762158 1(pancreas);1(liver);1(large_intestine) Benign|Benign not_specified|Disorders_of_Intracellular_Cobalamin_Metabolism RCV000126632.3|RCV000342711.1 MedGen|MedGen CN169374|CN043592 . . . . . . 0.333 0.213 T 0.013 0.154 B 0.009 0.133 B 0.000 0.629 D 0.003 0.434 P 0.97 0.241 L 2.32 0.166 T 0.05 0.064 N 0.043 0.040 -0.921 0.454 T 0.006 0.022 T . . . 1.931 0.293 15.78 0.975 0.339 0.968 0.708 D c -0.682 -0.479 0.000 0.068 0.732 0.924 0 1.99 0.253 3.435 0.524 0.234 0.260 1.000 0.715 0.998 0.697 6.324 0.203 . ENSG00000219881.1|ENSG00000219881.1|ENSG00000168216.6|ENSG00000219881.1|ENSG00000168216.6 Adipose_Subcutaneous|Lung|Muscle_Skeletal|Nerve_Tibial|Testis 0.3948 0.1528 0.3803 0.4291 0.5504 0.3406 0.4026 0.3960 0.4425 0.3317 0.1526 0.3993 0.4338 0.5281 0.3506 0.4009 0.3959 het 1107.46 90 6 70407465 . A T 1107.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.905;DP=90;Dels=0.00;FS=1.716;HRun=1;HaplotypeScore=0.7887;MQ=57.53;MQ0=0;MQRankSum=-0.519;QD=12.31;ReadPosRankSum=-0.186;VQSLOD=4.5497;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,49:90:99:1137,0,970 6 70866609 70866609 C T exonic COL19A1 synonymous SNV COL19A1:NM_001858:exon34:c.C2286T:p.G762G 0.51 0.69 0.51 0.31 0.47 0.53 0.4883 0.6671 0.4587 0.3229 0.4175 0.4804 0.4579 0.5388 0.53 0.66 0.47 0.56 0.43 rs2229799 COSM3762159 1(breast);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4718 0.6627 0.4475 0.6157 0.3044 0.3965 0.4640 0.4913 0.5300 0.4949 0.6524 0.4702 0.5567 0.3050 0.4088 0.4456 0.4632 het 367.76 26 6 70866609 . C T 367.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.485;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4965;MQ=59.11;MQ0=0;MQRankSum=-0.755;QD=14.14;ReadPosRankSum=1.509;VQSLOD=5.7324;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,17:26:99:398,0,225 6 70916888 70916888 A C exonic COL19A1 synonymous SNV COL19A1:NM_001858:exon51:c.A3339C:p.P1113P 0.76 0.84 0.86 0.7 0.71 0.69 0.7351 0.8284 0.8643 0.6503 0.7160 0.7291 0.7064 0.6639 0.76 0.82 0.73 0.8 0.66 rs1200576 COSM4161316 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7394 0.8282 0.8581 0.8317 0.6495 0.7113 0.7226 0.7497 0.6659 0.7506 0.8142 0.8373 0.8377 0.6275 0.7189 0.7290 0.7300 hom 7842.37 250 6 70916888 . A C 7842.37 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.676;DP=250;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.3133;MQ=59.34;MQ0=0;MQRankSum=0.940;QD=31.37;ReadPosRankSum=0.870;VQSLOD=6.2784;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7819,597,0 6 70961833 70961833 T C exonic COL9A1 nonsynonymous SNV COL9A1:NM_078485:exon22:c.A1133G:p.Q378R,COL9A1:NM_001851:exon28:c.A1862G:p.Q621R 0.33 0.36 0.25 0.29 0.43 0.26 0.3753 0.3547 0.2849 0.2853 0.3900 0.4217 0.3822 0.3046 0.39 0.35 0.41 0.34 0.39 rs1135056 COSM3762160;COSM3762161;COSM3762162 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign not_specified|Multiple_Epiphyseal_Dysplasia\x2c_Dominant|Stickler_Syndrome\x2c_Recessive RCV000250680.2|RCV000282891.1|RCV000397911.1 MedGen|MedGen|MedGen CN169374|CN043640|CN239473 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.003 0.080 B 0.001 0.425 N 1.000 0.186 P -0.1 0.047 N -3.18 0.931 D 0.61 0.025 N 0.019 0.004 -0.684 0.612 T 0.339 0.705 T . . . -0.169 0.078 1.269 0.700 0.089 0.003 0.014 N c -0.874 -0.704 0.001 0.081 0.706 0.609 0 4.93 0.643 1.732 0.375 -0.374 0.066 0.014 0.188 0.164 0.209 13.120 0.586 . ENSG00000112280.11 Brain_Nucleus_accumbens_basal_ganglia 0.3713 0.3567 0.2917 0.4343 0.2833 0.3878 0.4192 0.3886 0.3055 0.3818 0.3497 0.2957 0.4205 0.2818 0.4006 0.4097 0.3992 hom 4538.77 155 6 70961833 . T C 4538.77 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.459;DP=155;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=6.7834;MQ=58.85;MQ0=0;MQRankSum=1.459;QD=29.28;ReadPosRankSum=-1.573;VQSLOD=6.0545;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,153:155:99:4509,366,0 6 71238105 71238105 A G exonic FAM135A nonsynonymous SNV FAM135A:NM_001331000:exon14:c.A3038G:p.D1013G,FAM135A:NM_001331005:exon14:c.A3626G:p.D1209G,FAM135A:NM_001330997:exon15:c.A3137G:p.D1046G,FAM135A:NM_001331001:exon15:c.A3137G:p.D1046G,FAM135A:NM_001331004:exon15:c.A2450G:p.D817G,FAM135A:NM_001351600:exon15:c.A3725G:p.D1242G,FAM135A:NM_020819:exon15:c.A3086G:p.D1029G,FAM135A:NM_001105531:exon16:c.A3137G:p.D1046G,FAM135A:NM_001162529:exon16:c.A3725G:p.D1242G,FAM135A:NM_001330996:exon16:c.A3803G:p.D1268G,FAM135A:NM_001331002:exon16:c.A3137G:p.D1046G,FAM135A:NM_001351599:exon16:c.A3803G:p.D1268G,FAM135A:NM_001351602:exon16:c.A3725G:p.D1242G,FAM135A:NM_001351608:exon16:c.A2879G:p.D960G,FAM135A:NM_001330995:exon17:c.A2465G:p.D822G,FAM135A:NM_001330998:exon17:c.A3215G:p.D1072G,FAM135A:NM_001330999:exon17:c.A3803G:p.D1268G,FAM135A:NM_001331003:exon17:c.A3215G:p.D1072G,FAM135A:NM_001351607:exon17:c.A3725G:p.D1242G,FAM135A:NM_001331006:exon18:c.A2543G:p.D848G,FAM135A:NM_001351609:exon18:c.A2285G:p.D762G 0.34 0.019 0.25 0.54 0.48 0.48 0.4150 0.0798 0.2304 0.5388 0.4032 0.4684 0.4536 0.4784 0.35 0.086 0.48 0.32 0.43 rs2747701 COSM3762170;COSM3762169 1(breast);1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.018 0.512 D 0.305 0.309 B 0.109 0.329 B 0.000 0.513 N 0.000 0.588 P 2.25 0.640 M 2.16 0.245 T -4.35 0.790 D 0.088 0.084 -1.098 0.043 T 0.036 0.155 T . . . 3.362 0.463 22.9 0.982 0.388 0.970 0.719 D c -0.099 -0.054 0.941 0.274 0.706 0.609 0 3.77 0.423 6.188 0.718 1.028 0.649 1.000 0.715 0.994 0.587 10.304 0.427 . ENSG00000154079.5|ENSG00000154079.5|ENSG00000154079.5|ENSG00000154079.5 Artery_Tibial|Breast_Mammary_Tissue|Thyroid|Whole_Blood 0.4139 0.0750 0.2443 0.4700 0.5310 0.4103 0.4719 0.4219 0.4743 0.3477 0.0827 0.2825 0.4603 0.5068 0.4313 0.4623 0.4129 hom 4592.72 151 6 71238105 . A G 4592.72 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.14;MQ0=0;QD=30.42;VQSLOD=9.0516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:4592,346,0 6 71665982 71665982 G C exonic B3GAT2 nonsynonymous SNV B3GAT2:NM_080742:exon1:c.C151G:p.R51G 0.0042 0.0015 0.0043 . 0.013 0.0031 0.0154 0.0053 0.0079 0 0.0038 0.0248 0.0060 0.0039 0.013 0.0042 0.018 . . rs200678168 . . . . . . . . . . . . . 0.068 0.357 T 0.953 0.523 P 0.588 0.486 P 0.085 0.206 N 0.596 0.310 N 1.7 0.440 L -0.14 0.650 T -2.13 0.483 N 0.181 0.244 -1.025 0.221 T 0.110 0.396 T . . . 3.501 0.478 23.1 0.860 0.157 0.374 0.255 N c -0.294 -0.334 1.000 0.423 0.437 0.062 0 2.98 0.334 0.574 0.232 0.083 0.191 0.955 0.331 0.128 0.199 10.408 0.433 . . . 0.0130 0.0036 0.0083 0.0159 6.181e-05 0.0040 0.0224 0.0115 0.0036 0.0101 0.0034 0.0084 0.0066 0 0.0060 0.0164 0.0071 het 165.64 14 6 71665982 . G C 165.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.910;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=-0.201;QD=11.83;ReadPosRankSum=0.421;VQSLOD=4.6228;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:196,0,162 6 71665986 71665986 G A exonic B3GAT2 synonymous SNV B3GAT2:NM_080742:exon1:c.C147T:p.G49G 0.53 0.61 0.61 0.64 0.39 0.4 0.5326 0.6120 0.7251 0.6562 0.4201 0.4933 0.4813 0.4741 0.48 0.56 0.43 0.22 0.13 rs1574490 COSM3749985 1(breast);1(pancreas);2(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4870 0.5717 0.6752 0.5662 0.6119 0.3325 0.4298 0.4799 0.4456 0.4522 0.5513 0.6370 0.5629 0.6064 0.3209 0.3999 0.3939 hom 390.95 14 6 71665986 . G A 390.95 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=27.92;VQSLOD=7.3766;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.07:424,39,0 6 72806844 72806844 C T exonic RIMS1 synonymous SNV RIMS1:NM_001350412:exon2:c.C357T:p.R119R,RIMS1:NM_001350411:exon3:c.C435T:p.R145R,RIMS1:NM_001350413:exon3:c.C438T:p.R146R,RIMS1:NM_014989:exon3:c.C438T:p.R146R 0.005 0.0023 0.0029 . 0.005 0.015 0.0048 0.0007 0.0025 0.0001 0.0009 0.0043 0.0078 0.0142 0.0033 0.0007 0.0046 . . rs142196418 . . Likely benign Cone-Rod_Dystrophy\x2c_Dominant RCV000260375.1 MedGen CN239348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0045 0.0006 0.0030 0.0021 5.804e-05 0.0010 0.0047 0.0060 0.0130 0.0026 0.0003 0.0060 0 0.0006 0.0026 0.0040 0.0041 het 1372.79 111 6 72806844 . C T 1372.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.658;DP=111;Dels=0.00;FS=9.092;HRun=0;HaplotypeScore=2.7077;MQ=59.19;MQ0=0;MQRankSum=0.506;QD=12.37;ReadPosRankSum=0.373;VQSLOD=3.2875;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,58:111:99:1403,0,1357 6 72889472 72889472 A G exonic RIMS1 synonymous SNV RIMS1:NM_014989:exon5:c.A666G:p.L222L 0.75 0.83 0.71 0.83 0.65 0.7 0.6762 0.8084 0.6642 0.8431 0.6098 0.6377 0.6711 0.7012 0.69 0.8 0.64 0.7 . rs2249021 . . Benign|Benign not_specified|Cone-Rod_Dystrophy\x2c_Dominant RCV000244988.1|RCV000282879.1 MedGen|MedGen CN169374|CN239348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6727 0.8094 0.6671 0.6555 0.8366 0.6135 0.6362 0.6659 0.7009 0.6865 0.8028 0.6862 0.6291 0.8416 0.6259 0.6200 0.6437 het 2829.88 231 6 72889472 . A G 2829.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.168;DP=231;DS;Dels=0.00;FS=9.736;HRun=0;HaplotypeScore=5.7453;MQ=59.23;MQ0=0;MQRankSum=2.271;QD=12.25;ReadPosRankSum=-0.464;VQSLOD=3.9408;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:120,111:231:99:2860,0,3215 6 73904557 73904557 C T exonic KCNQ5 nonsynonymous SNV KCNQ5:NM_001160134:exon12:c.C1889T:p.P630L,KCNQ5:NM_001160130:exon13:c.C2192T:p.P731L,KCNQ5:NM_001160132:exon14:c.C2249T:p.P750L,KCNQ5:NM_019842:exon14:c.C2219T:p.P740L,KCNQ5:NM_001160133:exon15:c.C2276T:p.P759L 0.017 0.0008 0.03 0.002 0.053 0.01 0.0373 0.0081 0.0255 0.0007 0.0206 0.0565 0.0420 0.0121 0.042 0.0079 0.059 0.043 0.041 rs61743058 . . . . . . . . . . . . . 0.001 0.784 D 0.034 0.227 B 0.036 0.246 B 0.503 0.119 N 0.973 0.478 D 0.55 0.145 N -5.8 0.995 D -2.22 0.519 N 0.053 0.055 0.643 0.925 D 0.916 0.972 D . . . 4.212 0.564 23.9 0.994 0.623 0.936 0.583 D c -0.051 0.143 1.000 0.747 0.563 0.310 0 5.32 0.753 3.101 0.497 0.935 0.490 0.988 0.363 0.760 0.324 18.988 0.927 . . . 0.0374 0.0081 0.0253 0.0944 0.0006 0.0188 0.0555 0.0492 0.0132 0.0317 0.0081 0.0251 0.1225 0.0006 0.0183 0.0498 0.0407 het 1085.88 89 6 73904557 . C T 1085.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.424;DP=89;Dels=0.00;FS=2.970;HRun=0;HaplotypeScore=4.5067;MQ=59.32;MQ0=0;MQRankSum=-1.274;QD=12.20;ReadPosRankSum=0.129;VQSLOD=4.8228;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,42:89:99:1116,0,1334 6 74073531 74073531 C G exonic KHDC3L nonsynonymous SNV KHDC3L:NM_001017361:exon3:c.C602G:p.A201G 0.49 0.31 0.45 0.54 0.57 0.63 0.5198 0.3541 0.3989 0.5407 0.5356 0.5449 0.5404 0.5853 0.49 0.37 0.55 0.54 0.43 rs561930 COSM3762184 1(large_intestine) . . . . . . . . . . . 0.046 0.405 D 0.997 0.689 D 0.894 0.616 P 0.711 0.063 N 1 0.090 P 1.59 0.404 L 0.68 0.520 T -0.27 0.114 N 0.064 0.049 -1.032 0.199 T 0.121 0.422 T . . . 1.721 0.268 14.53 0.980 0.367 0.057 0.115 N c -0.555 -0.833 0.000 0.029 0.487 0.133 0 -0.555 0.112 0.137 0.157 0.650 0.292 0.001 0.137 0.006 0.095 8.027 0.294 . ENSG00000080007.6|ENSG00000203907.5|ENSG00000203907.5|ENSG00000080007.6|ENSG00000135297.11|ENSG00000080007.6|ENSG00000203907.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Thyroid 0.5180 0.3473 0.4030 0.4639 0.5392 0.5397 0.5538 0.5066 0.5898 0.4864 0.3529 0.4594 0.5232 0.5690 0.5321 0.5441 0.5031 hom 2281.44 73 6 74073531 . C G 2281.44 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.25;VQSLOD=13.8505;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2314,178,0 6 74079024 74079024 A G exonic OOEP nonsynonymous SNV OOEP:NM_001080507:exon2:c.T275C:p.V92A 0.51 0.31 0.5 0.59 0.58 0.63 0.5318 0.3548 0.4600 0.5842 0.5600 0.5471 0.5449 0.5857 0.49 0.37 0.55 0.56 . rs496530 COSM4998879 1(pancreas) . . . . . . . . . . . 0.911 0.024 T 0.023 0.265 B 0.013 0.208 B 0.860 0.071 N 1 0.090 P 0.11 0.085 N 2.75 0.116 T 0.85 0.020 N 0.037 0.021 -0.948 0.413 T 0.004 0.012 T . . . -0.944 0.034 0.021 0.613 0.065 0.006 0.028 N c -1.194 -1.198 0.000 0.012 0.515 0.199 0 1.38 0.212 -0.029 0.122 1.001 0.622 0.000 0.063 0.061 0.171 4.474 0.111 KH-like RNA-binding domain ENSG00000203907.5|ENSG00000203907.5|ENSG00000080007.6|ENSG00000080007.6|ENSG00000203907.5 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Thyroid 0.5327 0.3525 0.4588 0.4639 0.5841 0.5589 0.5572 0.5206 0.5902 0.4996 0.3581 0.5097 0.5232 0.6213 0.5591 0.5525 0.5194 hom 2508.94 78 6 74079024 . A G 2508.94 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5241;MQ=58.96;MQ0=0;QD=32.17;VQSLOD=8.0535;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2542,199,0 6 74079041 74079041 A C exonic OOEP synonymous SNV OOEP:NM_001080507:exon2:c.T258G:p.V86V 0.97 0.9 0.99 1. 1. 1. 0.9932 0.9230 0.9971 1 1 0.9998 0.9967 0.9990 0.98 0.93 1. 0.98 . rs497243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9231 0.9959 1 1 1 0.9997 0.9980 0.9989 0.9781 0.9234 0.9940 1 1 1 0.9998 0.9959 hom 2112.23 62 6 74079041 . A C 2112.23 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;QD=34.07;VQSLOD=8.0521;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:2145,169,0 6 74125875 74125875 A G exonic DDX43 nonsynonymous SNV DDX43:NM_018665:exon16:c.A1873G:p.K625E 0.49 0.31 0.45 0.54 0.57 0.63 0.5181 0.3512 0.4011 0.5436 0.5406 0.5425 0.5364 0.5833 0.49 0.37 0.54 0.54 0.5 rs311686 COSM5003485 1(pancreas) . . . . . . . . . . . 0.367 0.116 T 0.002 0.090 B 0.005 0.104 B 0.001 0.397 N 0.413 0.588 P 1.725 0.447 L 2.4 0.156 T -1.05 0.275 N 0.041 0.021 -0.997 0.308 T 0.013 0.049 T . . . 0.569 0.148 7.936 0.841 0.146 0.670 0.330 D c -0.565 -0.505 0.002 0.091 0.615 0.372 0 4.11 0.472 2.594 0.456 0.189 0.248 0.967 0.338 0.030 0.147 6.871 0.232 . ENSG00000080007.6|ENSG00000203907.5|ENSG00000203907.5|ENSG00000080007.6|ENSG00000203907.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Thyroid 0.5160 0.3494 0.4028 0.4614 0.5416 0.5407 0.5500 0.5062 0.5860 0.4842 0.3541 0.4566 0.5233 0.5718 0.5315 0.5391 0.5041 hom 1909.34 63 6 74125875 . A G 1909.34 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6208;MQ=59.34;MQ0=0;QD=30.31;VQSLOD=8.5318;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1942,147,0 6 74125888 74125888 A G exonic DDX43 nonsynonymous SNV DDX43:NM_018665:exon16:c.A1886G:p.Q629R 0.49 0.31 0.45 0.55 0.57 0.63 0.5181 0.3517 0.4008 0.5437 0.5394 0.5424 0.5388 0.5835 0.49 0.37 0.54 0.54 0.49 rs311685 COSM5003491 1(pancreas) . . . . . . . . . . . 0.443 0.092 T 0.002 0.090 B 0.003 0.080 B 0.944 0.076 N 1 0.090 P 1.245 0.315 L 2.48 0.147 T -1.25 0.316 N 0.027 0.009 -0.926 0.447 T 0.009 0.033 T . . . -1.068 0.029 0.012 0.586 0.059 0.059 0.117 N c -1.101 -1.090 0.000 0.052 0.615 0.372 0 1.26 0.204 0.782 0.263 0.085 0.192 0.035 0.205 0.003 0.074 7.139 0.246 . ENSG00000080007.6|ENSG00000203907.5|ENSG00000203907.5|ENSG00000080007.6|ENSG00000203907.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Thyroid 0.5157 0.3492 0.4025 0.4615 0.5416 0.5403 0.5497 0.5051 0.5858 0.4839 0.3536 0.4566 0.5233 0.5713 0.5312 0.5389 0.5041 hom 1702.39 60 6 74125888 . A G 1702.39 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7825;MQ=59.62;MQ0=0;QD=28.37;VQSLOD=8.2033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1735,135,0 6 74135016 74135016 C T exonic MB21D1 synonymous SNV MB21D1:NM_138441:exon5:c.G1503A:p.K501K 0.72 0.67 0.61 0.73 0.75 0.82 0.7216 0.6795 0.5688 0.7106 0.7322 0.7344 0.7376 0.8021 0.72 0.67 0.74 0.78 0.44 rs311678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7148 0.6825 0.5702 0.6367 0.7084 0.7251 0.7420 0.7136 0.8006 0.7166 0.6931 0.6098 0.6921 0.7364 0.7202 0.7340 0.7147 hom 2020.91 64 6 74135016 . C T 2020.91 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=31.58;VQSLOD=8.4799;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:64:99:2054,156,0 6 74155346 74155346 G T exonic MB21D1 nonsynonymous SNV MB21D1:NM_138441:exon2:c.C782A:p.P261H 0.5 0.37 0.39 0.5 0.64 0.62 0.5605 0.4004 0.3280 0.4980 0.5792 0.6144 0.5678 0.6286 0.55 0.4 0.62 0.54 0.48 rs610913 COSM4004120 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.01 0.564 D 1.0 0.899 D 0.988 0.764 D 0.001 0.416 D 0.481 0.319 P 2.505 0.732 M 3.18 0.075 T -4.55 0.793 D 0.232 0.378 -1.151 0.010 T 0.046 0.196 T . . . 4.388 0.587 24.1 0.996 0.725 0.672 0.331 D c 0.514 0.422 1.000 0.454 0.660 0.490 0 5.09 0.685 1.615 0.363 1.048 0.713 1.000 0.715 0.969 0.458 11.490 0.494 Mab-21 domain ENSG00000135297.11|ENSG00000203907.5|ENSG00000135297.11|ENSG00000135297.11 Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis 0.5512 0.3951 0.3359 0.5550 0.5037 0.5774 0.6180 0.5478 0.6285 0.5397 0.4182 0.3849 0.5795 0.5286 0.5950 0.6054 0.5582 hom 1435.22 48 6 74155346 . G T 1435.22 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7870;MQ=58.73;MQ0=0;QD=29.90;VQSLOD=8.8077;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:48:99:1468,114,0 6 74161503 74161503 A G exonic MB21D1 synonymous SNV MB21D1:NM_138441:exon1:c.T402C:p.P134P 0.9 0.89 0.87 0.95 0.86 0.92 0.8724 0.8829 0.8790 0.9595 0.8621 0.8500 0.8764 0.9051 0.87 0.89 0.86 0.81 0.27 rs9446904 COSM3749986 8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8618 0.8775 0.8590 0.7723 0.9576 0.8478 0.8454 0.8393 0.9029 0.8544 0.8688 0.8652 0.7533 0.9571 0.8522 0.8381 0.8344 hom 406.69 12 6 74161503 . A G 406.69 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.89;VQSLOD=13.3338;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:440,36,0 6 74161801 74161801 G T exonic MB21D1 nonsynonymous SNV MB21D1:NM_138441:exon1:c.C104A:p.T35N 0.9 0.89 0.87 0.95 0.86 0.92 0.8795 0.8860 0.8776 0.9605 0.8718 0.8584 0.8956 0.9079 0.87 0.89 0.86 0.88 0.32 rs9352000 COSM4161348 1(thyroid) . . . . . . . . . . . 0.716 0.042 T 0.0 0.026 B 0.0 0.013 B 0.203 0.033 N 1 0.090 P -1.7 0.004 N 1.5 0.312 T 0.03 0.066 N 0.025 0.008 -1.027 0.215 T 0.006 0.019 T . . . -1.545 0.016 0.002 0.444 0.034 0.003 0.015 N c -1.977 -1.989 1.000 0.747 0.442 0.072 0 -4.54 0.032 -2.779 0.008 -0.770 0.033 0.000 0.063 0.001 0.043 2.67 0.047 . ENSG00000119899.11|ENSG00000119899.11|ENSG00000119899.11|ENSG00000135297.11|ENSG00000119899.11|ENSG00000119899.11|ENSG00000164430.11 Artery_Aorta|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Lung|Pancreas|Thyroid 0.8627 0.8761 0.8579 0.7774 0.9576 0.8478 0.8460 0.8397 0.9024 0.8544 0.8685 0.8652 0.7517 0.9567 0.8521 0.8385 0.8340 hom 403.98 14 6 74161801 . G T 403.98 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.86;VQSLOD=13.1067;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:36.09:437,36,0 6 74466377 74466377 C T exonic CD109 synonymous SNV CD109:NM_001159588:exon5:c.C414T:p.Y138Y,CD109:NM_001159587:exon6:c.C645T:p.Y215Y,CD109:NM_133493:exon6:c.C645T:p.Y215Y 0.67 0.73 0.68 0.85 0.51 0.55 0.5879 0.7320 0.7483 0.8358 0.4524 0.5210 0.5650 0.5802 0.6 0.72 0.53 0.71 0.52 rs6453696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5658 0.7183 0.7091 0.5442 0.8195 0.4426 0.5138 0.5454 0.5599 0.5933 0.7203 0.7093 0.5 0.8368 0.4648 0.5222 0.5337 het 1170.35 111 6 74466377 . C T 1170.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.294;DP=111;Dels=0.00;FS=0.708;HRun=1;HaplotypeScore=0.7340;MQ=57.84;MQ0=0;MQRankSum=1.516;QD=10.54;ReadPosRankSum=-0.974;VQSLOD=4.1428;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,49:111:99:1200,0,1462 6 74493432 74493432 A C exonic CD109 nonsynonymous SNV CD109:NM_001159588:exon18:c.A1877C:p.Y626S,CD109:NM_001159587:exon19:c.A2108C:p.Y703S,CD109:NM_133493:exon19:c.A2108C:p.Y703S 0.52 0.66 0.51 0.53 0.49 0.34 0.5111 0.6538 0.6051 0.5183 0.4374 0.5025 0.4956 0.4163 0.56 0.64 0.51 0.63 0.48 rs10455097 COSM5001942 2(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.354 0.043 N 1.000 0.191 P -1.835 0.003 N 1.91 0.233 T 1.87 0.006 N 0.059 0.043 -0.976 0.360 T 0.007 0.025 T . . . 0.404 0.133 6.650 0.448 0.034 0.120 0.168 N c -0.931 -0.705 0.005 0.108 0.707 0.730 0 5.16 0.704 2.166 0.418 -0.025 0.128 0.999 0.424 0.209 0.219 10.623 0.445 Alpha-2-macroglobulin ENSG00000156535.9|ENSG00000156535.9 Artery_Aorta|Artery_Tibial 0.5110 0.6499 0.6014 0.5248 0.5175 0.4309 0.5043 0.5055 0.4180 0.5394 0.6440 0.5885 0.4702 0.5447 0.4481 0.5021 0.4735 het 743.92 69 6 74493432 . A C 743.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.374;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9557;MQ=58.48;MQ0=0;MQRankSum=1.847;QD=10.78;ReadPosRankSum=-0.911;VQSLOD=5.4335;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,32:69:99:774,0,964 6 74533192 74533192 T G exonic CD109 synonymous SNV CD109:NM_001159588:exon32:c.T3942G:p.A1314A,CD109:NM_001159587:exon33:c.T4122G:p.A1374A,CD109:NM_133493:exon33:c.T4173G:p.A1391A 0.84 0.66 0.93 0.95 0.93 0.84 0.9026 0.7174 0.9493 0.9470 0.9431 0.9307 0.8974 0.8337 0.86 0.72 0.93 0.87 0.93 rs2917887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9095 0.7156 0.9476 0.9236 0.9482 0.9427 0.9320 0.9163 0.8319 0.8721 0.7199 0.9438 0.9106 0.9549 0.9424 0.9282 0.9061 hom 2180.11 74 6 74533192 . T G 2180.11 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=59.38;MQ0=0;QD=29.46;VQSLOD=8.2863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2213,190,0 6 75797302 75797302 C T exonic COL12A1 nonsynonymous SNV COL12A1:NM_080645:exon50:c.G5680A:p.G1894S,COL12A1:NM_004370:exon65:c.G9172A:p.G3058S 0.71 0.68 0.77 0.68 0.77 0.68 0.7451 0.6646 0.8470 0.6653 0.6664 0.7765 0.7065 0.6700 0.74 0.66 0.78 0.78 0.71 rs970547 COSM150125 1(stomach) Benign not_specified RCV000245895.1 MedGen CN169374 . . . . . . 0.023 0.912 D 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 0.000 0.588 P 2.005 0.547 M -2.46 0.889 D -1.53 0.406 N 0.495 0.551 0.557 0.913 D 0.755 0.917 D . . . 5.995 0.824 27.8 0.999 0.951 0.983 0.815 D c 0.805 0.816 1.000 0.747 0.635 0.413 0 5.75 0.904 7.568 0.814 0.935 0.490 1.000 0.715 0.997 0.653 19.548 0.953 Fibronectin type III|Immunoglobulin-like fold . . 0.7465 0.6583 0.8371 0.7599 0.6604 0.6700 0.7792 0.7542 0.6705 0.7272 0.6554 0.8126 0.7450 0.6580 0.6610 0.7864 0.7301 hom 3588.56 112 6 75797302 . C T 3588.56 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=32.04;VQSLOD=9.2167;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3588,271,0 6 75841722 75841722 A T exonic COL12A1 synonymous SNV COL12A1:NM_080645:exon20:c.T2379A:p.A793A,COL12A1:NM_004370:exon35:c.T5871A:p.A1957A 0.89 0.88 0.91 0.87 0.89 0.89 0.8834 0.8710 0.9323 0.8741 0.8866 0.8829 0.8833 0.8616 0.88 0.88 0.88 0.92 0.93 rs594012 . . Benign not_specified RCV000245710.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8867 0.8697 0.9320 0.8947 0.8715 0.8906 0.8825 0.8908 0.8631 0.8845 0.8795 0.9033 0.8907 0.8610 0.8840 0.8885 0.8900 hom 5659.69 186 6 75841722 . A T 5659.69 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4926;MQ=59.35;MQ0=0;QD=30.43;VQSLOD=8.4784;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,185:186:99:5659,463,0 6 76369054 76369054 A G exonic SENP6 synonymous SNV SENP6:NM_001100409:exon7:c.A606G:p.R202R,SENP6:NM_001304792:exon7:c.A606G:p.R202R,SENP6:NM_015571:exon8:c.A627G:p.R209R 0.9 0.73 0.98 0.88 0.98 0.99 0.9594 0.7748 0.9859 0.8889 0.9871 0.9803 0.9665 0.9908 0.92 0.8 0.98 0.81 0.89 rs507662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9636 0.7770 0.9829 0.9990 0.8882 0.9867 0.9794 0.9660 0.9913 0.9181 0.7777 0.9714 1 0.8827 0.9877 0.9796 0.9633 hom 1792.18 59 6 76369054 . A G 1792.18 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=30.38;VQSLOD=8.8193;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1825,138,0 6 76576290 76576290 C T exonic MYO6 synonymous SNV MYO6:NM_001300899:exon17:c.C1722T:p.D574D,MYO6:NM_004999:exon17:c.C1722T:p.D574D 0.029 0.0023 0.033 0.013 0.058 0.049 0.0519 0.0091 0.0261 0.0178 0.0646 0.0624 0.0595 0.0667 0.043 0.0095 0.061 0.043 0.09 rs11756446 . . Benign|Likely benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000038289.3|RCV000280716.1|RCV000338118.1 MedGen|MedGen|MedGen CN169374|CN239439|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0513 0.0093 0.0247 0.0703 0.0193 0.0643 0.0615 0.0545 0.0660 0.0416 0.0089 0.0310 0.0497 0.0136 0.0650 0.0583 0.0450 het 1006.86 104 6 76576290 . C T 1006.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.176;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5975;MQ=58.61;MQ0=0;MQRankSum=0.553;QD=9.68;ReadPosRankSum=0.645;VQSLOD=5.4596;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,46:104:99:1037,0,1439 6 76633385 76633385 C T exonic IMPG1 nonsynonymous SNV IMPG1:NM_001282368:exon15:c.G2048A:p.S683N,IMPG1:NM_001563:exon16:c.G2282A:p.S761N 0.12 0.021 0.23 0.055 0.26 0.12 0.2017 0.0582 0.1864 0.0544 0.1879 0.2626 0.2240 0.1549 0.19 0.061 0.26 0.14 0.18 rs3778005 . . . . . . . . . . . . . 0.969 0.136 T 0.004 0.112 B 0.002 0.063 B 0.396 0.045 N 1 0.090 P 1.175 0.300 L 2.06 0.205 T 0.32 0.053 N 0.004 0.000 -0.968 0.376 T 0.010 0.036 T . . . -1.381 0.020 0.003 0.509 0.044 0.019 0.058 N c -1.227 -1.250 0.000 0.044 0.554 0.283 0 0.067 0.136 0.096 0.149 0.059 0.165 0.000 0.063 0.102 0.190 3.327 0.066 . ENSG00000112701.13 Whole_Blood 0.1912 0.0541 0.1737 0.1649 0.0503 0.1758 0.2532 0.2234 0.1508 0.1757 0.0610 0.1933 0.1933 0.0624 0.1723 0.2528 0.1963 het 684.42 76 6 76633385 . C T 684.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.250;DP=76;Dels=0.00;FS=1.957;HRun=1;HaplotypeScore=0.9159;MQ=58.39;MQ0=0;MQRankSum=1.898;QD=9.01;ReadPosRankSum=0.492;VQSLOD=5.1584;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,30:76:99:714,0,1204 6 76660551 76660551 G C exonic IMPG1 nonsynonymous SNV IMPG1:NM_001282368:exon12:c.C1318G:p.H440D,IMPG1:NM_001563:exon13:c.C1552G:p.H518D 0.53 0.56 0.57 0.66 0.41 0.48 0.4659 0.5294 0.5989 0.6749 0.4085 0.4046 0.4758 0.4945 0.44 0.52 0.41 0.61 0.48 rs3734311 COSM3927839 5(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.014 0.286 N 1 0.090 P -2.32 0.001 N 2.25 0.178 T 1.84 0.005 N 0.018 0.003 -0.945 0.418 T 0.002 0.008 T . . . -0.889 0.036 0.027 0.428 0.032 0.000 0.003 N c -1.500 -1.370 0.000 0.029 0.526 0.212 0 1.48 0.218 0.709 0.252 0.026 0.148 0.006 0.172 0.403 0.255 5.560 0.163 . . . 0.4667 0.5363 0.5842 0.4648 0.6773 0.4017 0.3959 0.4566 0.4919 0.4529 0.5436 0.5586 0.52 0.6939 0.4024 0.3830 0.3900 het 798.31 75 6 76660551 . G C 798.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.558;DP=75;Dels=0.00;FS=2.009;HRun=0;HaplotypeScore=2.4095;MQ=59.07;MQ0=0;MQRankSum=-0.919;QD=10.64;ReadPosRankSum=-0.325;VQSLOD=5.4755;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,30:75:99:828,0,1293 6 78172260 78172260 C G exonic HTR1B synonymous SNV HTR1B:NM_000863:exon1:c.G861C:p.V287V 0.34 0.24 0.4 0.51 0.26 0.32 0.3064 0.2375 0.4398 0.4871 0.2528 0.2654 0.2985 0.3490 0.25 0.22 0.26 0.32 0.2 rs6296 COSM5021530 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3113 0.2367 0.4326 0.2489 0.4987 0.2450 0.2652 0.3030 0.3470 0.2687 0.2236 0.3864 0.3013 0.4963 0.2437 0.2672 0.2942 het 2715.36 237 6 78172260 . C G 2715.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.230;DP=237;DS;Dels=0.00;FS=7.644;HRun=0;HaplotypeScore=3.8294;MQ=59.76;MQ0=0;MQRankSum=-0.253;QD=11.46;ReadPosRankSum=0.907;VQSLOD=4.6431;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,102:237:99:2745,0,3864 6 78172750 78172750 A C exonic HTR1B nonsynonymous SNV HTR1B:NM_000863:exon1:c.T371G:p.F124C 0.0034 0.0008 0.0029 . 0.013 0.001 0.0093 0.0021 0.0082 0.0001 0.0091 0.0128 0.0077 0.0050 0.01 0.0036 0.013 . 0.025 rs130060 . . . . . . . . . . . . . 0.001 0.784 D 0.666 0.391 P 0.518 0.463 P 0.001 0.408 D 1.000 0.497 D 1.71 0.444 L 1.09 0.392 T -1.55 0.375 N 0.242 0.296 -1.028 0.212 T 0.103 0.380 T . . . 5.558 0.756 26.4 0.993 0.583 0.948 0.622 D c 0.500 0.562 1.000 0.747 0.652 0.477 0 5.27 0.737 9.325 0.960 1.199 0.960 1.000 0.715 1.000 0.888 14.522 0.673 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0100 0.0019 0.0090 0.0147 0.0001 0.0092 0.0138 0.0102 0.0058 0.0087 0.0024 0.0155 0.0099 0 0.0094 0.0125 0.0102 het 2374.44 150 6 78172750 . A C 2374.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.000;DP=150;Dels=0.00;FS=1.348;HRun=0;HaplotypeScore=0.8667;MQ=59.38;MQ0=0;MQRankSum=0.957;QD=15.83;ReadPosRankSum=-2.098;VQSLOD=5.7751;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,79:150:99:2404,0,1945 6 78172992 78172992 G A exonic HTR1B synonymous SNV HTR1B:NM_000863:exon1:c.C129T:p.S43S 0.34 0.24 0.4 0.51 0.26 0.33 0.3066 0.2371 0.4398 0.4871 0.2529 0.2652 0.2963 0.3523 0.25 0.22 0.26 0.32 0.21 rs6298 COSM4004128 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3117 0.2366 0.4326 0.2488 0.4990 0.2452 0.2651 0.3031 0.3511 0.2688 0.2244 0.3854 0.3013 0.4969 0.2431 0.2670 0.2963 het 2851.91 221 6 78172992 . G A 2851.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.304;DP=221;DS;Dels=0.00;FS=9.717;HRun=0;HaplotypeScore=5.2914;MQ=58.89;MQ0=0;MQRankSum=1.090;QD=12.90;ReadPosRankSum=1.543;VQSLOD=4.3048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,98:221:99:2882,0,3549 6 79656562 79656562 A T exonic PHIP synonymous SNV PHIP:NM_017934:exon37:c.T4236A:p.A1412A 0.24 0.26 0.29 0.18 0.32 0.16 0.2814 0.2668 0.3502 0.1840 0.3385 0.3045 0.2707 0.1779 0.29 0.27 0.3 0.25 0.17 rs2275291 COSM3762192 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2716 0.2441 0.3129 0.1872 0.1711 0.3379 0.2975 0.2736 0.1705 0.2937 0.2658 0.3489 0.1689 0.1853 0.3499 0.3075 0.3023 het 337.78 41 6 79656562 . A T 337.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.598;DP=41;Dels=0.00;FS=5.085;HRun=0;HaplotypeScore=2.9631;MQ=56.83;MQ0=0;MQRankSum=0.509;QD=8.24;ReadPosRankSum=-0.069;VQSLOD=3.2885;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,14:41:99:368,0,670 6 79656570 79656570 G A exonic PHIP synonymous SNV PHIP:NM_017934:exon37:c.C4228T:p.L1410L 0.28 0.34 0.32 0.19 0.37 0.17 0.3237 0.3386 0.3766 0.1848 0.3927 0.3564 0.3150 0.1920 0.35 0.34 0.35 0.34 0.29 rs2275290 COSM3762193 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3164 0.3194 0.3405 0.2781 0.1742 0.3878 0.3486 0.3237 0.1869 0.3408 0.3325 0.3723 0.2517 0.1859 0.3961 0.3492 0.3457 het 300.97 36 6 79656570 . G A 300.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.258;DP=36;Dels=0.00;FS=8.141;HRun=1;HaplotypeScore=2.9631;MQ=56.38;MQ0=0;MQRankSum=-0.084;QD=8.36;ReadPosRankSum=0.822;VQSLOD=2.2702;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,12:36:99:331,0,621 6 79675701 79675701 A G exonic PHIP nonsynonymous SNV PHIP:NM_017934:exon28:c.T3278C:p.L1093P 0.22 0.17 0.28 0.19 0.32 0.16 0.2753 0.1914 0.3472 0.1850 0.3403 0.3054 0.2698 0.1777 0.27 0.2 0.3 0.23 0.2 rs9350797 COSM3762194 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.323 N 0.001 0.472 P -0.975 0.012 N 0.99 0.418 T 4.96 0.000 N 0.053 0.044 -0.963 0.386 T 0.011 0.044 T . . . 0.851 0.175 9.775 0.791 0.122 0.287 0.234 N c -0.672 -0.428 0.821 0.245 0.707 0.730 0 2.76 0.314 2.585 0.455 0.149 0.237 0.996 0.391 0.996 0.625 6.828 0.229 . ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9|ENSG00000146243.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.2775 0.1839 0.3377 0.1953 0.1858 0.3425 0.3070 0.2816 0.1815 0.2745 0.1924 0.3453 0.1689 0.1859 0.3515 0.3102 0.2998 het 3193.39 247 6 79675701 . A G 3193.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.106;DP=247;DS;Dels=0.00;FS=11.539;HRun=1;HaplotypeScore=8.0118;MQ=59.32;MQ0=0;MQRankSum=1.274;QD=12.93;ReadPosRankSum=1.631;VQSLOD=3.4929;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,124:247:99:3223,0,3169 6 79692751 79692751 G A exonic PHIP nonsynonymous SNV PHIP:NM_017934:exon23:c.C2621T:p.T874I 0.075 0.0091 0.079 0.11 0.1 0.096 0.0861 0.0219 0.0502 0.0927 0.0889 0.0994 0.0980 0.0925 0.077 0.026 0.1 0.15 0.11 rs11547228 COSM4004130 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.304 0.143 T 0.0 0.026 B 0.0 0.013 B 0.002 0.387 N 0.345 0.330 P 1.01 0.254 L 1.49 0.315 T -0.54 0.166 N 0.038 0.021 -1.061 0.114 T 0.023 0.099 T . . . 2.001 0.301 16.22 0.982 0.384 0.869 0.459 D c -0.168 0.010 0.011 0.121 0.732 0.924 0 3.96 0.449 2.668 0.462 0.007 0.138 1.000 0.715 0.998 0.697 10.780 0.454 . ENSG00000146243.9 Cells_EBV-transformed_lymphocytes 0.0871 0.0203 0.0541 0.1435 0.0934 0.0849 0.0992 0.0958 0.0914 0.0775 0.0265 0.0742 0.1589 0.0911 0.0895 0.1000 0.1027 het 766.76 76 6 79692751 . G A 766.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.033;DP=76;Dels=0.00;FS=3.418;HRun=0;HaplotypeScore=3.9882;MQ=56.70;MQ0=0;MQRankSum=0.698;QD=10.09;ReadPosRankSum=1.876;VQSLOD=3.1615;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,35:76:99:797,0,1102 6 79708000 79708000 A C exonic PHIP nonsynonymous SNV PHIP:NM_017934:exon18:c.T1988G:p.V663G 0.94 0.9 0.89 1. 0.96 0.97 0.9464 0.8983 0.8984 0.9993 0.9339 0.9548 0.9361 0.9547 0.93 0.9 0.95 0.91 0.94 rs7747479 . . . . . . . . . . . . . 0.674 0.045 T 0.0 0.026 B 0.0 0.013 B 0.076 0.212 N 0.989 0.243 P -1.795 0.003 N 1.51 0.309 T 2.3 0.003 N 0.13 0.149 -0.920 0.456 T 0.007 0.024 T . . . -0.798 0.040 0.043 0.199 0.007 0.008 0.031 N c -1.667 -1.536 0.000 0.050 0.707 0.730 0 1.88 0.245 0.100 0.150 -0.329 0.075 0.039 0.207 0.933 0.406 9.454 0.377 . . . 0.9440 0.8975 0.8965 0.9693 0.9995 0.9331 0.9536 0.9522 0.9518 0.9372 0.9028 0.9069 0.9801 1 0.9370 0.9514 0.9358 hom 3670.15 121 6 79708000 . A C 3670.15 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=58.29;MQ0=0;QD=30.33;VQSLOD=8.9702;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3670,283,0 6 80228535 80228535 T G exonic LCA5 nonsynonymous SNV LCA5:NM_001122769:exon2:c.A77C:p.D26A,LCA5:NM_181714:exon3:c.A77C:p.D26A 0.17 0.074 0.23 0.22 0.17 0.22 0.1835 0.0775 0.2355 0.2132 0.1373 0.1849 0.1696 0.2119 0.15 0.077 0.18 0.065 0.13 rs34068461 COSM4004131 2(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Leber_congenital_amaurosis RCV000153450.3|RCV000314829.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0339527:ORPHA65:193413001 . . . . . . 0.0 0.912 D 0.004 0.206 B 0.01 0.233 B 0.300 0.146 N 0.122 0.357 P 2.215 0.627 M -0.0 0.626 T -5.19 0.836 D 0.068 0.055 -0.939 0.428 T 0.120 0.420 T . . . 3.445 0.472 23.0 0.995 0.679 0.757 0.368 D c -0.164 -0.064 1.000 0.747 0.638 0.428 0 4.09 0.469 2.864 0.479 1.058 0.762 0.997 0.399 0.938 0.411 10.295 0.426 . . . 0.1842 0.0733 0.2274 0.1479 0.2130 0.1461 0.1874 0.1698 0.2066 0.1487 0.0777 0.2243 0.1457 0.2203 0.1466 0.1770 0.1718 het 4091.29 248 6 80228535 . T G 4091.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.063;DP=248;DS;Dels=0.00;FS=2.180;HRun=0;HaplotypeScore=2.3969;MQ=58.90;MQ0=0;MQRankSum=-0.398;QD=16.50;ReadPosRankSum=0.783;VQSLOD=5.6578;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:122,126:248:99:3461,0,3204 6 80228541 80228541 A G exonic LCA5 nonsynonymous SNV LCA5:NM_001122769:exon2:c.T71C:p.L24S,LCA5:NM_181714:exon3:c.T71C:p.L24S 0.89 0.95 0.88 0.97 0.79 0.84 0.8346 0.9306 0.9128 0.9816 0.7948 0.7909 0.8161 0.8356 0.84 0.92 0.79 0.87 0.81 rs2655655 COSM4406846 1(liver) Benign|Benign not_specified|Leber_congenital_amaurosis RCV000153451.3|RCV000367055.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0339527:ORPHA65:193413001 . . . . . . 0.524 0.071 T 0.0 0.026 B 0.0 0.013 B 0.042 0.238 N 1.000 0.090 P -2.33 0.001 N 1.68 0.272 T 3.35 0.001 N 0.063 0.048 -0.942 0.424 T 0.005 0.018 T . . . 0.927 0.182 10.23 0.652 0.075 0.064 0.123 N c -0.892 -0.649 1.000 0.747 0.638 0.428 0 4.41 0.524 2.723 0.467 0.136 0.221 0.999 0.424 0.233 0.224 9.370 0.372 . . . 0.8356 0.9312 0.9120 0.7514 0.9813 0.8037 0.7919 0.8216 0.8340 0.8486 0.9270 0.9057 0.7616 0.9833 0.8080 0.7982 0.8238 hom 8372.20 250 6 80228541 . A G 8372.20 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3953;MQ=58.82;MQ0=0;QD=33.49;VQSLOD=9.4087;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8371,653,0 6 80741243 80741243 A T exonic TTK synonymous SNV TTK:NM_001166691:exon14:c.A1578T:p.I526I,TTK:NM_003318:exon14:c.A1581T:p.I527I 0.085 0.026 0.1 0.011 0.15 0.16 0.1396 0.0477 0.0782 0.0054 0.1278 0.1708 0.1626 0.1860 0.13 0.05 0.17 0.054 0.16 rs1801465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1387 0.0433 0.0708 0.2613 0.0051 0.1242 0.1637 0.1499 0.1831 0.1086 0.0450 0.0692 0.2947 0.0049 0.1251 0.1499 0.1327 het 1042.12 145 6 80741243 . A T 1042.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.199;DP=145;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8650;MQ=58.25;MQ0=0;MQRankSum=0.611;QD=7.19;ReadPosRankSum=0.229;VQSLOD=5.2530;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,50:145:99:1072,0,2075 6 80749972 80749972 A C exonic TTK synonymous SNV TTK:NM_001166691:exon20:c.A2364C:p.P788P,TTK:NM_003318:exon20:c.A2367C:p.P789P 0.074 0.0053 0.094 0.011 0.14 0.15 0.1305 0.0268 0.0754 0.0052 0.1038 0.1634 0.1563 0.1741 0.12 0.029 0.16 0.054 0.15 rs1801460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1290 0.0239 0.0744 0.2616 0.0057 0.1009 0.1581 0.1410 0.1762 0.0959 0.0261 0.0661 0.2947 0.0050 0.1029 0.1411 0.1176 het 484.91 57 6 80749972 . A C 484.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.991;DP=57;Dels=0.00;FS=1.035;HRun=2;HaplotypeScore=2.2611;MQ=59.12;MQ0=0;MQRankSum=-0.270;QD=8.51;ReadPosRankSum=1.533;VQSLOD=5.6525;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,22:57:99:515,0,771 6 83075914 83075914 G A exonic TPBG synonymous SNV TPBG:NM_001166392:exon2:c.G1236A:p.T412T,TPBG:NM_006670:exon3:c.G1236A:p.T412T 0.69 0.73 0.72 0.58 0.69 0.71 0.6794 0.7358 0.6522 0.5839 0.7323 0.6757 0.7038 0.7091 0.7 0.73 0.68 0.63 0.75 rs700494 COSM4161360 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6787 0.7422 0.6519 0.6637 0.5849 0.7361 0.6770 0.6930 0.6957 0.6883 0.7406 0.6519 0.6291 0.5929 0.7318 0.6615 0.6848 het 1033.35 87 6 83075914 . G A 1033.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.675;DP=87;Dels=0.00;FS=1.907;HRun=2;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;MQRankSum=1.444;QD=11.88;ReadPosRankSum=0.978;VQSLOD=6.3127;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,36:87:99:1063,0,1327 6 83949261 83949261 T C exonic ME1 synonymous SNV ME1:NM_002395:exon8:c.A909G:p.G303G 0.43 0.6 0.47 0.35 0.42 0.29 0.4119 0.5637 0.5196 0.3329 0.3952 0.4087 0.4042 0.3017 0.46 0.56 0.41 0.51 0.43 rs1180230 COSM5618763 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4139 0.5675 0.5147 0.3957 0.3327 0.3962 0.4097 0.4273 0.3040 0.4385 0.5585 0.5227 0.3742 0.3530 0.3810 0.3923 0.3740 hom 3836 131 6 83949261 . T C 3836 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9265;MQ=59.16;MQ0=0;QD=29.28;VQSLOD=8.7444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:3836,286,0 6 84233831 84233831 G A exonic PRSS35 nonsynonymous SNV PRSS35:NM_153362:exon2:c.G671A:p.R224Q,PRSS35:NM_001170423:exon3:c.G671A:p.R224Q 0.97 1. 0.96 1. 0.89 0.98 0.9218 0.9836 0.9543 0.9999 0.8587 0.8911 0.9141 0.9692 0.92 0.98 0.89 0.95 0.82 rs504593 . . . . . . . . . . . . . 0.716 0.040 T 0.002 0.090 B 0.0 0.013 B 0.313 0.144 N 1 0.090 P 0.145 0.088 N 0.88 0.460 T 0.11 0.057 N 0.064 0.049 -0.986 0.335 T 0.015 0.060 T . . . -0.450 0.058 0.293 0.446 0.034 0.015 0.049 N c -1.433 -1.436 0.000 0.044 0.638 0.428 0 -1.34 0.086 -0.036 0.120 -1.080 0.019 0.000 0.063 0.000 0.016 2.455 0.042 Serine proteases\x2c trypsin domain ENSG00000146250.5 Cells_Transformed_fibroblasts 0.9198 0.9855 0.9488 0.8471 0.9999 0.8648 0.8943 0.9072 0.9685 0.9220 0.9819 0.9366 0.8377 0.9994 0.8626 0.8942 0.9092 het 961.33 78 6 84233831 . G A 961.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.343;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5233;MQ=59.70;MQ0=0;MQRankSum=-0.540;QD=12.32;ReadPosRankSum=-0.396;VQSLOD=6.1027;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,34:78:99:991,0,1194 6 84894942 84894942 C T exonic CEP162 synonymous SNV CEP162:NM_001286206:exon13:c.G1398A:p.L466L,CEP162:NM_014895:exon13:c.G1626A:p.L542L 0.012 0.0015 0.025 0.001 0.035 0.0041 0.0285 0.0080 0.0176 0.0001 0.0271 0.0418 0.0189 0.0110 0.032 0.0066 0.044 0.022 . rs41271605 COSM3762204 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0292 0.0073 0.0201 0.0323 5.802e-05 0.0265 0.0445 0.0336 0.0114 0.0259 0.0077 0.0179 0.0298 0 0.0221 0.0410 0.0204 het 729.32 47 6 84894942 . C T 729.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.097;DP=47;Dels=0.00;FS=5.699;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.964;QD=15.52;ReadPosRankSum=0.632;VQSLOD=4.8012;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,27:47:99:759,0,582 6 86199233 86199233 A G exonic NT5E nonsynonymous SNV NT5E:NM_001204813:exon6:c.A1126G:p.T376A,NT5E:NM_002526:exon6:c.A1126G:p.T376A 0.79 0.96 0.84 0.6 0.7 0.82 0.7340 0.9333 0.8783 0.5989 0.6327 0.6814 0.7086 0.8322 0.77 0.92 0.69 0.85 0.66 rs2229523 . . . . . . . . . . . . . 0.519 0.172 T 0.0 0.026 B 0.0 0.040 B 0.169 0.174 N 1 0.090 P -0.815 0.015 N 0.59 0.540 T 0.79 0.022 N 0.202 0.248 -1.010 0.268 T 0.018 0.075 T . . . -1.212 0.025 0.006 0.418 0.030 0.175 0.197 N c -1.693 -1.645 0.781 0.238 0.707 0.730 0 -0.403 0.117 -0.045 0.119 -2.646 0.002 0.001 0.137 0.023 0.138 1.809 0.029 -Nucleotidase\x2c C-terminal;-Nucleotidase\x2c C-terminal|5'5&apos ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000220563.1|ENSG00000203875.6|ENSG00000220563.1|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000234155.1|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000135318.7|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6|ENSG00000203875.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.7320 0.9344 0.8693 0.7678 0.5961 0.6231 0.6742 0.7281 0.8348 0.7390 0.9258 0.8385 0.7483 0.5797 0.6400 0.6684 0.6789 het 1298.59 132 6 86199233 . A G 1298.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.819;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8300;MQ=59.39;MQ0=0;MQRankSum=2.890;QD=9.84;ReadPosRankSum=0.654;VQSLOD=5.2348;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,52:132:99:1329,0,1977 6 87967636 87967636 A G exonic ZNF292 nonsynonymous SNV ZNF292:NM_015021:exon8:c.A4289G:p.N1430S,ZNF292:NM_001351444:exon9:c.A3869G:p.N1290S 0.085 0.03 0.055 0.14 0.095 0.11 0.0918 0.0350 0.0446 0.1361 0.1085 0.0997 0.0848 0.0968 0.076 0.039 0.093 0.054 . rs6941356 . . . . . . . . . . . . . 0.446 0.091 T 0.012 0.151 B 0.007 0.121 B 0.008 0.312 N 0.957 0.263 N 0.11 0.085 N 3.29 0.065 T -0.62 0.183 N 0.008 0.000 -0.898 0.482 T 0.003 0.011 T . . . -0.795 0.040 0.044 0.824 0.137 0.743 0.360 D c -0.634 -0.444 0.201 0.181 0.672 0.522 0 2.64 0.304 1.636 0.365 -0.205 0.101 1.000 0.715 0.995 0.604 7.540 0.267 . ENSG00000203872.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.0897 0.0335 0.0475 0.0524 0.1362 0.1047 0.1011 0.0880 0.0976 0.0815 0.0353 0.0537 0.0430 0.1448 0.1002 0.0986 0.0947 het 1704.87 141 6 87967636 . A G 1704.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.507;DP=141;Dels=0.00;FS=1.382;HRun=0;HaplotypeScore=6.2004;MQ=58.97;MQ0=0;MQRankSum=0.442;QD=12.09;ReadPosRankSum=0.855;VQSLOD=5.1721;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,67:141:99:1735,0,1772 6 87969737 87969737 C T exonic ZNF292 synonymous SNV ZNF292:NM_015021:exon8:c.C6390T:p.N2130N,ZNF292:NM_001351444:exon9:c.C5970T:p.N1990N 0.59 0.62 0.67 0.6 0.47 0.63 0.5289 0.6140 0.6959 0.5876 0.4646 0.4755 0.5045 0.5743 0.53 0.61 0.49 0.59 . rs3734187 COSM1131787;COSM1131788 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5350 0.6136 0.6821 0.4820 0.5929 0.4717 0.4786 0.5220 0.5724 0.5207 0.6120 0.6310 0.4437 0.5982 0.4694 0.4681 0.5010 het 1142.70 88 6 87969737 . C T 1142.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.513;DP=88;Dels=0.00;FS=2.796;HRun=2;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;MQRankSum=1.784;QD=12.99;ReadPosRankSum=0.054;VQSLOD=6.0969;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,42:88:99:1173,0,1297 6 87970301 87970301 C G exonic ZNF292 synonymous SNV ZNF292:NM_015021:exon8:c.C6954G:p.T2318T,ZNF292:NM_001351444:exon9:c.C6534G:p.T2178T 0.67 0.85 0.7 0.6 0.51 0.66 0.5765 0.8177 0.7211 0.5867 0.5032 0.5135 0.5544 0.6131 0.61 0.8 0.53 0.67 . rs3812132 COSM3762210;COSM3762209 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5798 0.8201 0.7104 0.5036 0.5928 0.5092 0.5182 0.5605 0.6125 0.6062 0.8125 0.6631 0.4570 0.6025 0.5094 0.5123 0.5532 het 433.85 37 6 87970301 . C G 433.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.947;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.35;MQ0=0;MQRankSum=0.350;QD=11.73;ReadPosRankSum=-2.270;VQSLOD=4.7077;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,17:37:99:464,0,578 6 87970650 87970650 G A exonic ZNF292 nonsynonymous SNV ZNF292:NM_015021:exon8:c.G7303A:p.V2435I,ZNF292:NM_001351444:exon9:c.G6883A:p.V2295I 0.005 . 0.0014 . 0.005 0.019 0.0100 0.0022 0.0049 0.0001 0.0017 0.0104 0.0121 0.0245 0.0057 0.0021 0.0074 0.011 . rs61744959 . . . . . . . . . . . . . 0.406 0.103 T 0.006 0.126 B 0.009 0.133 B 0.461 0.124 N 1.000 0.090 N 1.735 0.450 L 3.34 0.061 T -0.22 0.105 N 0.029 0.010 -0.901 0.479 T 0.004 0.014 T . . . 0.283 0.121 5.525 0.756 0.108 0.511 0.286 D c -0.592 -0.480 0.970 0.291 0.651 0.465 0 2.71 0.310 0.799 0.265 0.063 0.168 0.128 0.231 0.840 0.350 6.622 0.219 . . . 0.0081 0.0016 0.0040 0.0019 0 0.0019 0.0094 0.0058 0.0228 0.0052 0.0018 0.0036 0.0066 0 0.0017 0.0087 0.0020 het 249.92 18 6 87970650 . G A 249.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.630;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-0.181;QD=13.88;ReadPosRankSum=0.453;VQSLOD=6.4601;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,11:18:99:280,0,192 6 87994015 87994015 A G exonic GJB7 nonsynonymous SNV GJB7:NM_198568:exon3:c.T616C:p.F206L 0.58 0.59 0.66 0.6 0.47 0.63 0.5265 0.5923 0.6946 0.5870 0.4647 0.4738 0.5044 0.5744 0.52 0.59 0.49 0.56 0.56 rs6934603 COSM3762211 1(pancreas);2(large_intestine) . . . . . . . . . . . 0.548 0.066 T 0.0 0.026 B 0.0 0.013 B 0.959 0.077 N 1 0.090 P -0.1 0.047 N -4.37 0.973 D -0.17 0.096 N 0.03 0.011 -0.661 0.623 T 0.432 0.773 T . . . -1.058 0.030 0.012 0.278 0.014 0.131 0.175 N c -1.209 -1.105 0.000 0.050 0.554 0.283 0 0.619 0.167 0.649 0.243 -0.307 0.079 0.001 0.137 0.921 0.396 5.976 0.185 . ENSG00000272008.1|ENSG00000203872.6|ENSG00000111850.6|ENSG00000226524.2|ENSG00000203872.6|ENSG00000272008.1|ENSG00000226524.2|ENSG00000226524.2|ENSG00000203872.6|ENSG00000226524.2|ENSG00000272008.1|ENSG00000188994.8|ENSG00000226524.2|ENSG00000226524.2|ENSG00000188994.8 Artery_Aorta|Artery_Tibial|Brain_Cortex|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Thyroid|Whole_Blood|Whole_Blood 0.5324 0.5899 0.6806 0.4818 0.5930 0.4718 0.4766 0.5206 0.5725 0.5121 0.5868 0.6256 0.4437 0.5993 0.4693 0.4652 0.5 het 1364.67 96 6 87994015 . A G 1364.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.180;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.76;MQ0=0;MQRankSum=1.121;QD=14.22;ReadPosRankSum=0.908;VQSLOD=7.0258;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,52:96:99:1395,0,1281 6 87994572 87994572 G A exonic GJB7 nonsynonymous SNV GJB7:NM_198568:exon3:c.C59T:p.T20I 0.68 0.89 0.71 0.6 0.51 0.66 0.5816 0.8531 0.7232 0.5882 0.5041 0.5141 0.5551 0.6135 0.63 0.84 0.53 0.67 0.65 rs4707358 COSM3762212 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.504 N 1.000 0.189 P -3.17 0.000 N -5.23 0.989 D 2.84 0.002 N 0.04 0.361 -0.655 0.625 T 0.307 0.678 T . . . -1.755 0.012 0.002 0.073 0.000 0.040 0.093 N c -1.406 -1.158 0.001 0.082 0.554 0.246 0 2.72 0.310 4.859 0.624 -0.265 0.087 1.000 0.715 0.014 0.122 4.981 0.134 Connexin\x2c N-terminal ENSG00000226524.2|ENSG00000226524.2|ENSG00000111850.6|ENSG00000111850.6|ENSG00000226524.2|ENSG00000203872.6|ENSG00000111850.6|ENSG00000226524.2|ENSG00000226524.2|ENSG00000226524.2|ENSG00000226524.2|ENSG00000203872.6|ENSG00000226524.2|ENSG00000272008.1|ENSG00000188994.8|ENSG00000226524.2|ENSG00000226524.2|ENSG00000226524.2|ENSG00000188994.8 Adipose_Subcutaneous|Artery_Tibial|Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.5829 0.8543 0.7131 0.5047 0.5931 0.5093 0.5189 0.5621 0.6127 0.6160 0.8475 0.6659 0.4567 0.5988 0.5095 0.5125 0.5531 het 1303.50 126 6 87994572 . G A 1303.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.771;DP=126;Dels=0.00;FS=0.679;HRun=1;HaplotypeScore=1.9799;MQ=59.15;MQ0=0;MQRankSum=0.753;QD=10.35;ReadPosRankSum=0.064;VQSLOD=6.7875;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,55:126:99:1333,0,2032 6 88046800 88046800 G A exonic SMIM8 synonymous SNV SMIM8:NM_001287445:exon2:c.G51A:p.E17E,SMIM8:NM_020425:exon2:c.G51A:p.E17E,SMIM8:NM_001042493:exon3:c.G51A:p.E17E 0.11 0.098 0.071 0.13 0.12 0.13 0.1093 0.0977 0.0609 0.1365 0.1276 0.1135 0.0991 0.1125 0.11 0.097 0.11 0.098 0.17 rs1048893 COSM4004141 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1061 0.0952 0.0619 0.0573 0.1349 0.1209 0.1164 0.0993 0.1124 0.1118 0.1002 0.0622 0.0497 0.1422 0.1184 0.1181 0.1053 het 1326.15 122 6 88046800 . G A 1326.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.610;DP=122;Dels=0.00;FS=0.691;HRun=3;HaplotypeScore=5.5391;MQ=58.62;MQ0=0;MQRankSum=0.783;QD=10.87;ReadPosRankSum=0.196;VQSLOD=5.4252;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,52:122:99:1356,0,1708 6 88125542 88125542 G A exonic CFAP206 nonsynonymous SNV CFAP206:NM_001031743:exon5:c.G422A:p.R141H 0.11 0.11 0.071 0.1 0.12 0.12 0.1087 0.1188 0.0614 0.0965 0.1453 0.1133 0.0960 0.1094 0.11 0.12 0.11 0.11 0.18 rs61731441 . . . . . . . . . . . . . 0.023 0.481 D 1.0 0.899 D 0.912 0.663 D 0.000 0.491 D 0.586 0.310 P 2.42 0.702 M 1.55 0.299 T -2.34 0.605 N 0.14 0.328 -1.115 0.027 T 0.100 0.373 T . . . 2.607 0.375 20.2 0.999 0.975 0.900 0.506 D c 0.378 0.353 0.485 0.208 0.516 0.203 0 5.6 0.849 2.847 0.477 0.998 0.613 0.951 0.329 0.101 0.189 19.203 0.937 . ENSG00000203872.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000146282.13|ENSG00000203872.6|ENSG00000111850.6|ENSG00000203872.6|ENSG00000111850.6|ENSG00000203872.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Cerebellum|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.1057 0.1168 0.0643 0.0555 0.0961 0.1384 0.1150 0.1038 0.1090 0.1173 0.1223 0.0680 0.0497 0.0906 0.1320 0.1181 0.1166 het 1262.53 101 6 88125542 . G A 1262.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.163;DP=101;Dels=0.00;FS=2.649;HRun=0;HaplotypeScore=1.3123;MQ=59.40;MQ0=0;MQRankSum=1.961;QD=12.50;ReadPosRankSum=0.840;VQSLOD=5.8959;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,46:101:99:1293,0,1225 6 88126423 88126423 G C exonic CFAP206 nonsynonymous SNV CFAP206:NM_001031743:exon6:c.G509C:p.G170A 0.1 0.086 0.069 0.1 0.12 0.12 0.1067 0.0990 0.0611 0.0963 0.1454 0.1133 0.0965 0.1070 0.11 0.1 0.11 0.098 0.19 rs16879281 COSM5618291;COSM5618290 1(breast) . . . . . . . . . . . 0.534 0.093 T 0.176 0.272 B 0.04 0.225 B 0.004 0.337 N 0.218 0.343 P 1.71 0.444 L 1.62 0.282 T -1.23 0.448 N 0.048 0.330 -1.015 0.255 T 0.019 0.078 T . . . 0.557 0.147 7.856 0.843 0.147 0.806 0.399 D c -0.483 -0.355 0.000 0.042 0.516 0.203 0 2.88 0.325 1.603 0.362 0.079 0.188 0.971 0.341 0.896 0.378 10.520 0.439 . ENSG00000203872.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000111850.6|ENSG00000146282.13|ENSG00000111850.6|ENSG00000111850.6|ENSG00000203872.6|ENSG00000111850.6|ENSG00000203872.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Cerebellum|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.1035 0.0964 0.0628 0.0553 0.0954 0.1384 0.1145 0.1019 0.1066 0.1095 0.0994 0.0654 0.0497 0.0901 0.1305 0.1159 0.1166 het 609.07 50 6 88126423 . G C 609.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.702;DP=50;Dels=0.00;FS=1.164;HRun=0;HaplotypeScore=1.9982;MQ=58.78;MQ0=0;MQRankSum=-0.908;QD=12.18;ReadPosRankSum=1.899;VQSLOD=5.3156;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,23:50:99:639,0,670 6 88140811 88140811 C A exonic CFAP206 nonsynonymous SNV CFAP206:NM_001031743:exon10:c.C1220A:p.A407E 0.022 0.0015 0.016 . 0.043 0.054 0.0338 0.0065 0.0124 0 0.0508 0.0391 0.0320 0.0555 0.026 0.0061 0.037 0.054 0.041 rs117649467 . . . . . . . . . . . . . 0.252 0.170 T 0.042 0.201 B 0.026 0.195 B 0.000 0.497 D 1.000 0.498 D 1.89 0.503 L 1.52 0.307 T -0.93 0.249 N 0.189 0.333 -1.085 0.065 T 0.035 0.149 T . . . 3.304 0.456 22.9 0.966 0.300 0.758 0.369 D c -0.070 0.097 0.979 0.300 0.487 0.133 0 5.51 0.817 1.844 0.387 0.892 0.403 1.000 0.715 1.000 0.888 9.101 0.356 . ENSG00000203872.6 Adipose_Subcutaneous 0.0322 0.0048 0.0131 0.0102 0 0.0465 0.0395 0.0287 0.0552 0.0321 0.0064 0.0107 0.0132 0 0.0455 0.0486 0.0377 het 773.31 62 6 88140811 . C A 773.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.689;DP=62;Dels=0.00;FS=11.302;HRun=3;HaplotypeScore=0.0000;MQ=58.61;MQ0=0;MQRankSum=0.605;QD=12.47;ReadPosRankSum=0.310;VQSLOD=4.0454;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,31:62:99:803,0,852 6 88224164 88224164 T C exonic RARS2 synonymous SNV RARS2:NM_001350509:exon18:c.A1179G:p.K393K,RARS2:NM_001318785:exon19:c.A1179G:p.K393K,RARS2:NM_001350505:exon20:c.A1704G:p.K568K,RARS2:NM_001350506:exon20:c.A1179G:p.K393K,RARS2:NM_001350510:exon20:c.A1179G:p.K393K,RARS2:NM_020320:exon20:c.A1704G:p.K568K,RARS2:NM_001350507:exon21:c.A1179G:p.K393K,RARS2:NM_001350508:exon21:c.A1179G:p.K393K,RARS2:NM_001350511:exon21:c.A1179G:p.K393K 0.13 0.16 0.14 0.15 0.1 0.1 0.1093 0.1611 0.1126 0.1606 0.0976 0.0981 0.0969 0.0984 0.12 0.16 0.093 0.098 0.11 rs8802 COSM4004144 2(haematopoietic_and_lymphoid_tissue) Likely benign|Likely benign|Likely benign not_specified|Congenital_disorder_of_glycosylation|Pontoneocerebellar_hypoplasia RCV000118123.2|RCV000272477.1|RCV000334377.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0282577:ORPHA137:238049009|C1261175:373666002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1099 0.1637 0.1181 0.0903 0.1686 0.0980 0.0981 0.1131 0.0981 0.1168 0.1566 0.1146 0.0927 0.1811 0.1033 0.0916 0.0990 het 942.68 83 6 88224164 . T C 942.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.830;DP=83;Dels=0.00;FS=1.786;HRun=0;HaplotypeScore=0.0000;MQ=58.23;MQ0=0;MQRankSum=-1.162;QD=11.36;ReadPosRankSum=0.786;VQSLOD=4.8996;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,36:83:99:973,0,1123 6 88853635 88853635 C T exonic CNR1 synonymous SNV CNR1:NM_001160259:exon2:c.G1359A:p.T453T,CNR1:NM_016083:exon2:c.G1359A:p.T453T,CNR1:NM_033181:exon2:c.G1260A:p.T420T,CNR1:NM_001160226:exon3:c.G1359A:p.T453T,CNR1:NM_001160258:exon4:c.G1359A:p.T453T 0.13 0.029 0.15 0.076 0.26 0.17 0.2136 0.0613 0.1331 0.0679 0.3044 0.2698 0.2104 0.1787 0.2 0.071 0.27 0.087 0.19 rs1049353 COSM3762213 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2154 0.0555 0.1410 0.2027 0.0700 0.3114 0.2742 0.2114 0.1792 0.2021 0.0632 0.1423 0.1954 0.0643 0.3129 0.2728 0.2434 het 2713.77 233 6 88853635 . C T 2713.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.183;DP=233;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7643;MQ=59.15;MQ0=0;MQRankSum=0.046;QD=11.65;ReadPosRankSum=-1.562;VQSLOD=6.1898;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,98:233:99:2744,0,3738 6 89888744 89888744 C T exonic GABRR1 synonymous SNV GABRR1:NM_001256703:exon9:c.G1134A:p.A378A,GABRR1:NM_002042:exon10:c.G1185A:p.A395A,GABRR1:NM_001256704:exon11:c.G924A:p.A308A,GABRR1:NM_001267582:exon12:c.G924A:p.A308A 0.46 0.5 0.43 0.63 0.34 0.36 0.3871 0.4679 0.3962 0.6386 0.5073 0.3340 0.3634 0.3656 0.38 0.47 0.33 0.45 0.41 rs1796743 COSM3762215 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3911 0.4657 0.3959 0.2810 0.6486 0.4961 0.3372 0.3556 0.3649 0.4255 0.4728 0.3933 0.2767 0.6557 0.5014 0.3616 0.4031 het 980.86 90 6 89888744 . C T 980.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.182;DP=90;Dels=0.00;FS=2.400;HRun=1;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;MQRankSum=0.313;QD=10.90;ReadPosRankSum=-0.339;VQSLOD=6.6593;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,36:90:99:1011,0,1396 6 89907873 89907873 G A exonic GABRR1 synonymous SNV GABRR1:NM_001256703:exon4:c.C387T:p.D129D,GABRR1:NM_002042:exon5:c.C438T:p.D146D,GABRR1:NM_001256704:exon6:c.C177T:p.D59D,GABRR1:NM_001267582:exon7:c.C177T:p.D59D 0.79 0.64 0.88 0.95 0.84 0.74 0.8262 0.6621 0.8984 0.9537 0.9156 0.8303 0.8183 0.7599 0.78 0.67 0.83 0.75 0.85 rs422751 COSM3762216 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8327 0.6515 0.8856 0.8060 0.9566 0.9122 0.8289 0.8340 0.7606 0.8043 0.6625 0.8648 0.7980 0.9554 0.9127 0.8388 0.8497 het 4331.60 250 6 89907873 . G A 4331.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.468;DP=250;DS;Dels=0.00;FS=3.534;HRun=0;HaplotypeScore=5.7748;MQ=58.84;MQ0=0;MQRankSum=0.389;QD=17.33;ReadPosRankSum=1.009;VQSLOD=4.4605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,133:250:99:3635,0,3281 6 89926962 89926962 T C exonic GABRR1 nonsynonymous SNV GABRR1:NM_001256703:exon1:c.A80G:p.H27R,GABRR1:NM_002042:exon1:c.A80G:p.H27R 0.23 0.071 0.31 0.29 0.26 0.3 0.2611 0.1035 0.3983 0.2701 0.2065 0.2601 0.3018 0.2831 0.21 0.11 0.27 0.14 0.25 rs1186902 COSM150132 1(stomach);1(pancreas);1(prostate);1(thyroid);3(large_intestine) . . . . . . . . . . . 0.007 0.599 D 0.036 0.194 B 0.043 0.229 B 0.088 0.205 N 0.950 0.588 P 0.695 0.181 N 1.21 0.372 T -0.26 0.112 N 0.113 0.366 -1.034 0.191 T 0.024 0.102 T . . . 0.643 0.155 8.446 0.853 0.153 0.816 0.407 D c -0.380 -0.223 0.427 0.203 0.497 0.185 0 1.76 0.237 1.803 0.383 1.061 0.807 1.000 0.715 0.998 0.697 12.327 0.542 . ENSG00000146276.7 Artery_Tibial 0.2678 0.1019 0.3844 0.3328 0.2638 0.2071 0.2572 0.2791 0.2848 0.2089 0.1058 0.3501 0.3477 0.2947 0.2072 0.2464 0.2566 het 998.35 100 6 89926962 . T C 998.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.288;DP=100;Dels=0.00;FS=1.651;HRun=0;HaplotypeScore=2.4909;MQ=59.02;MQ0=0;MQRankSum=-1.267;QD=9.98;ReadPosRankSum=-0.898;VQSLOD=5.4507;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,43:100:99:1028,0,1314 6 89981413 89981413 T C exonic GABRR2 synonymous SNV GABRR2:NM_002043:exon3:c.A249G:p.V83V 0.69 0.82 0.55 0.73 0.58 0.69 0.6283 0.7906 0.5852 0.6911 0.6143 0.5929 0.6178 0.6745 0.66 0.78 0.6 0.67 . rs282117 COSM3762217;COSM451902 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6221 0.7879 0.5905 0.5406 0.6937 0.6178 0.5935 0.5924 0.6740 0.6577 0.7756 0.6041 0.5464 0.6941 0.6274 0.5994 0.6258 het 323.41 34 6 89981413 . T C 323.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.260;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=-0.248;QD=9.51;ReadPosRankSum=-0.213;VQSLOD=6.2445;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,13:34:99:353,0,554 6 90315789 90315789 A G exonic ANKRD6 nonsynonymous SNV ANKRD6:NM_001242809:exon5:c.A382G:p.I128V,ANKRD6:NM_001242811:exon5:c.A382G:p.I128V,ANKRD6:NM_001242813:exon5:c.A382G:p.I128V,ANKRD6:NM_014942:exon5:c.A382G:p.I128V 0.78 0.68 0.87 0.91 0.83 0.67 0.8356 0.7208 0.9036 0.9148 0.8757 0.8572 0.8354 0.7039 0.8 0.72 0.84 0.74 . rs3748085 COSM4406859 1(breast);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.327 N 1.000 0.810 P 1.275 0.323 L -0.31 0.680 T 0.44 0.040 N 0.021 0.159 -1.079 0.076 T 0.055 0.232 T . . . 0.416 0.134 6.754 0.885 0.174 0.131 0.175 N c -0.634 -0.439 0.960 0.284 0.706 0.609 0 4.07 0.466 4.004 0.565 0.138 0.222 1.000 0.715 0.991 0.552 10.218 0.422 Ankyrin repeat-containing domain ENSG00000135299.12|ENSG00000083099.6 Artery_Tibial|Cells_Transformed_fibroblasts 0.8290 0.6938 0.8924 0.8293 0.9052 0.8686 0.8454 0.8350 0.6833 0.8112 0.6878 0.8720 0.8344 0.8940 0.8772 0.8524 0.8473 hom 846.04 27 6 90315789 . A G 846.04 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.33;VQSLOD=13.0495;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:879,69,0 6 90333599 90333599 A G exonic ANKRD6 synonymous SNV ANKRD6:NM_001242814:exon9:c.A864G:p.A288A,ANKRD6:NM_001242813:exon11:c.A936G:p.A312A,ANKRD6:NM_001242809:exon12:c.A1041G:p.A347A,ANKRD6:NM_001242811:exon12:c.A1041G:p.A347A,ANKRD6:NM_014942:exon12:c.A1041G:p.A347A 0.9 0.88 0.92 1. 0.84 0.9 0.8651 0.8666 0.9336 0.9974 0.8592 0.8348 0.8546 0.8723 0.85 0.88 0.84 0.91 . rs17292811 COSM4161383 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8673 0.8667 0.9297 0.7978 0.9978 0.8609 0.8351 0.8581 0.8708 0.8549 0.8625 0.9010 0.7833 0.9969 0.8493 0.8355 0.85 het 847.52 58 6 90333599 . A G 847.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.389;DP=58;Dels=0.00;FS=2.313;HRun=0;HaplotypeScore=0.8941;MQ=59.60;MQ0=0;MQRankSum=-0.377;QD=14.61;ReadPosRankSum=-0.921;VQSLOD=6.2705;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,36:58:99:878,0,515 6 90340276 90340276 G A exonic ANKRD6 synonymous SNV ANKRD6:NM_001242814:exon13:c.G1545A:p.S515S,ANKRD6:NM_001242813:exon15:c.G1632A:p.S544S,ANKRD6:NM_001242809:exon16:c.G1737A:p.S579S,ANKRD6:NM_001242811:exon16:c.G1737A:p.S579S,ANKRD6:NM_014942:exon16:c.G1722A:p.S574S 0.6 0.57 0.7 0.91 0.47 0.39 0.5286 0.5812 0.7133 0.8977 0.4933 0.4788 0.5315 0.3910 0.51 0.59 0.48 0.28 . rs3210511 COSM3762219 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5363 0.5846 0.7027 0.4639 0.8977 0.4938 0.4788 0.5296 0.3915 0.5297 0.5705 0.6766 0.4371 0.8916 0.4974 0.4705 0.4928 het 547.57 49 6 90340276 . G A 547.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.070;DP=49;Dels=0.00;FS=7.075;HRun=0;HaplotypeScore=0.9967;MQ=59.53;MQ0=0;MQRankSum=-0.432;QD=11.17;ReadPosRankSum=1.075;VQSLOD=4.9887;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,22:49:99:578,0,742 6 90371202 90371202 G A exonic MDN1 synonymous SNV MDN1:NM_014611:exon88:c.C14661T:p.L4887L 0.73 0.72 0.78 0.92 0.65 0.58 0.6829 0.7124 0.8066 0.9014 0.6943 0.6567 0.6784 0.5648 0.67 0.71 0.65 0.72 0.7 rs9444701 COSM4161385 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6885 0.7142 0.7982 0.6522 0.9006 0.6995 0.6551 0.6682 0.5650 0.6939 0.7057 0.7566 0.6225 0.8937 0.7026 0.6620 0.6840 het 1996.50 146 6 90371202 . G A 1996.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.811;DP=146;Dels=0.00;FS=4.219;HRun=1;HaplotypeScore=2.6594;MQ=58.49;MQ0=0;MQRankSum=0.581;QD=13.67;ReadPosRankSum=0.386;VQSLOD=5.6409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,72:146:99:2026,0,1902 6 90390443 90390443 C A exonic MDN1 nonsynonymous SNV MDN1:NM_014611:exon74:c.G12130T:p.A4044S 0.61 0.61 0.7 0.91 0.47 0.39 0.5365 0.6138 0.7191 0.8937 0.4930 0.4860 0.5409 0.3929 0.53 0.61 0.48 0.61 0.58 rs9353689 COSM3762220 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.646 0.049 T 0.145 0.261 B 0.048 0.236 B 0.598 0.056 N 1 0.090 P 2.3 0.659 M 4.07 0.031 T -0.18 0.098 N 0.046 0.044 -0.917 0.460 T 0.003 0.011 T . . . 0.709 0.162 8.886 0.790 0.121 0.324 0.243 N c -1.229 -1.299 0.648 0.221 0.722 0.854 0 -0.328 0.120 -0.460 0.067 -1.141 0.017 0.000 0.063 0.001 0.043 8.681 0.332 . . . 0.5445 0.6205 0.7111 0.5221 0.8941 0.4947 0.4838 0.5417 0.3920 0.5437 0.6079 0.6842 0.5 0.8881 0.5003 0.4751 0.4990 het 936.78 76 6 90390443 . C A 936.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.663;DP=76;Dels=0.00;FS=6.112;HRun=0;HaplotypeScore=1.5317;MQ=59.18;MQ0=0;MQRankSum=0.000;QD=12.33;ReadPosRankSum=0.125;VQSLOD=5.6451;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,37:76:99:967,0,1035 6 90402482 90402482 G A exonic MDN1 nonsynonymous SNV MDN1:NM_014611:exon63:c.C10267T:p.H3423Y 0.6 0.6 0.7 0.91 0.46 0.38 0.5272 0.5985 0.7185 0.8937 0.4724 0.4762 0.5297 0.3832 0.51 0.6 0.47 0.59 0.55 rs9294445 COSM3762221 1(skin);1(large_intestine) . . . . . . . . . . . 0.999 0.019 T 0.001 0.067 B 0.001 0.040 B 0.005 0.334 N 1 0.090 P 2.34 0.674 M 4.09 0.030 T -1.34 0.334 N 0.032 0.015 -0.917 0.459 T 0.004 0.013 T . . . -2.095 0.007 0.001 0.381 0.025 0.779 0.380 D c -0.961 -0.905 1.000 0.467 0.707 0.730 0 3.31 0.369 1.655 0.367 0.104 0.200 0.968 0.339 0.005 0.090 7.674 0.275 . . . 0.5357 0.6061 0.7089 0.5223 0.8941 0.4776 0.4731 0.5325 0.3842 0.5324 0.5965 0.6818 0.4967 0.8880 0.4857 0.4628 0.4898 het 1658.05 121 6 90402482 . G A 1658.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.429;DP=121;Dels=0.00;FS=1.516;HRun=0;HaplotypeScore=3.4816;MQ=59.62;MQ0=0;MQRankSum=-0.215;QD=13.70;ReadPosRankSum=0.703;VQSLOD=6.2899;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,59:121:99:1688,0,1943 6 90448092 90448092 C T exonic MDN1 nonsynonymous SNV MDN1:NM_014611:exon33:c.G4676A:p.S1559N 0.88 0.8 0.9 1. 0.84 0.9 0.8556 0.7915 0.9305 0.9992 0.8511 0.8317 0.8557 0.8671 0.82 0.79 0.83 0.87 0.88 rs4140446 COSM4161387 1(thyroid) . . . . . . . . . . . 0.549 0.066 T 0.001 0.067 B 0.002 0.063 B 0.423 0.128 N 1 0.090 P -0.045 0.049 N 1.09 0.392 T 0.62 0.024 N 0.003 0.000 -0.974 0.365 T 0.021 0.088 T . . . 0.361 0.129 6.266 0.669 0.080 0.191 0.203 N c -1.301 -1.243 0.003 0.098 0.707 0.730 0 -2.32 0.063 0.531 0.226 -2.151 0.004 0.763 0.290 0.247 0.227 9.413 0.375 P-loop containing nucleoside triphosphate hydrolase ENSG00000112159.7 Skin_Sun_Exposed_Lower_leg 0.8596 0.7921 0.9270 0.7961 0.9994 0.8512 0.8325 0.8521 0.8677 0.8327 0.7914 0.8974 0.7781 0.9994 0.8443 0.8328 0.8436 het 1547.71 126 6 90448092 . C T 1547.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.456;DP=126;Dels=0.00;FS=2.282;HRun=1;HaplotypeScore=1.9465;MQ=58.89;MQ0=0;MQRankSum=1.050;QD=12.28;ReadPosRankSum=-2.426;VQSLOD=5.5410;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,65:126:99:1578,0,1665 6 90455084 90455084 A G exonic MDN1 synonymous SNV MDN1:NM_014611:exon29:c.T4086C:p.H1362H 0.93 0.98 0.93 1. 0.84 0.9 0.8718 0.9689 0.9383 0.9992 0.8511 0.8320 0.8565 0.8673 0.88 0.96 0.83 0.97 0.89 rs9359861 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8721 0.9712 0.9345 0.7961 0.9994 0.8513 0.8328 0.8579 0.8679 0.8824 0.9662 0.9081 0.7781 0.9994 0.8445 0.8325 0.8523 het 1694.33 123 6 90455084 . A G 1694.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.422;DP=123;Dels=0.00;FS=9.492;HRun=0;HaplotypeScore=3.5573;MQ=59.36;MQ0=0;MQRankSum=2.718;QD=13.78;ReadPosRankSum=1.325;VQSLOD=3.5822;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,58:123:99:1724,0,1717 6 90459454 90459454 G A exonic MDN1 synonymous SNV MDN1:NM_014611:exon25:c.C3423T:p.A1141A 0.85 0.92 0.87 0.92 0.81 0.68 0.8248 0.9184 0.8539 0.9027 0.8386 0.8251 0.8238 0.6984 0.85 0.91 0.82 0.85 0.7 rs4053618 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8258 0.9214 0.8507 0.8561 0.9017 0.8440 0.8227 0.8160 0.6982 0.8610 0.9154 0.8484 0.8444 0.8957 0.8565 0.8293 0.8344 hom 2380.36 69 6 90459454 . G A 2380.36 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.50;VQSLOD=13.7033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2413,187,0 6 90642358 90642358 G A exonic BACH2 synonymous SNV BACH2:NM_001170794:exon7:c.C2295T:p.N765N,BACH2:NM_021813:exon9:c.C2295T:p.N765N 0.1 0.15 0.069 0.07 0.11 0.092 0.1110 0.1287 0.0528 0.0666 0.1310 0.1260 0.1060 0.0958 0.12 0.13 0.12 0.21 0.19 rs3798789 COSM5009650;COSM5009651 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1093 0.1273 0.0578 0.2188 0.0705 0.1350 0.1161 0.1231 0.0975 0.1198 0.1287 0.0895 0.22 0.0734 0.1297 0.1171 0.1194 het 1310.52 89 6 90642358 . G A 1310.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.154;DP=89;Dels=0.00;FS=2.106;HRun=0;HaplotypeScore=3.6641;MQ=59.74;MQ0=0;MQRankSum=0.376;QD=14.72;ReadPosRankSum=0.928;VQSLOD=6.0298;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,47:89:99:1341,0,1046 6 90661242 90661242 C T exonic BACH2 nonsynonymous SNV BACH2:NM_001170794:exon5:c.G583A:p.A195T,BACH2:NM_021813:exon7:c.G583A:p.A195T 0.0006 . 0.0014 . 0.002 . 0.0020 0.0002 0.0002 0 0.0027 0.0031 0.0011 0.0004 0.0019 0.0002 0.0028 . . rs143586122 . . . . . . . . . . . . . 0.826 0.029 T 0.001 0.067 B 0.001 0.040 B 0.774 0.095 N 1 0.090 N -0.755 0.017 N 1.21 0.372 T 0.39 0.035 N 0.038 0.020 -0.928 0.445 T 0.013 0.052 T 0.005 0.130 T -1.015 0.031 0.015 0.819 0.134 0.080 0.138 N c -1.400 -1.375 1.000 0.747 0.657 0.484 0 -1.39 0.085 -0.615 0.056 -0.489 0.052 0.000 0.063 0.212 0.220 12.722 0.563 . . . 0.0017 0.0003 0.0005 0.0003 5.798e-05 0.0023 0.0029 0.0018 0.0003 0.0028 0.0008 0.0012 0 0 0.0054 0.0035 0.0061 het 2379.35 164 6 90661242 . C T 2379.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.577;DP=164;Dels=0.00;FS=7.155;HRun=0;HaplotypeScore=6.6748;MQ=58.91;MQ0=0;MQRankSum=-0.443;QD=14.51;ReadPosRankSum=-0.302;VQSLOD=2.7907;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,90:164:99:2409,0,1808 6 93967851 93967851 C T exonic EPHA7 synonymous SNV EPHA7:NM_001288629:exon11:c.G2061A:p.P687P,EPHA7:NM_004440:exon11:c.G2076A:p.P692P 0.73 0.6 0.69 0.82 0.72 0.86 0.7226 0.6110 0.6802 0.8037 0.7292 0.7074 0.7577 0.8367 0.68 0.61 0.72 0.67 0.76 rs345730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7210 0.5986 0.6815 0.7392 0.8031 0.7076 0.7066 0.7215 0.8348 0.6823 0.6010 0.6930 0.7550 0.7868 0.7228 0.7056 0.7035 hom 1881.31 63 6 93967851 . C T 1881.31 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9983;MQ=59.70;MQ0=0;QD=29.86;VQSLOD=8.0664;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1914,147,0 6 93982124 93982124 A G exonic EPHA7 synonymous SNV EPHA7:NM_001288629:exon6:c.T1341C:p.S447S,EPHA7:NM_004440:exon6:c.T1341C:p.S447S 0.9 0.99 0.82 0.82 0.89 0.93 0.8735 0.9780 0.7625 0.8071 0.8546 0.8713 0.8888 0.9350 0.92 0.98 0.88 0.89 0.9 rs345713 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8680 0.9769 0.7652 0.9378 0.8047 0.8471 0.8732 0.8717 0.9343 0.8912 0.9733 0.8070 0.9437 0.7869 0.8502 0.8689 0.8686 hom 3762.07 114 6 93982124 . A G 3762.07 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6131;MQ=57.57;MQ0=0;QD=33.00;VQSLOD=6.1569;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,113:114:99:3728,301,0 6 94067981 94067981 C T exonic EPHA7 synonymous SNV EPHA7:NM_001288629:exon4:c.G981A:p.A327A,EPHA7:NM_004440:exon4:c.G981A:p.A327A 0.73 0.89 0.65 0.83 0.55 0.65 0.6284 0.8391 0.7133 0.8300 0.6096 0.5465 0.6333 0.6683 0.64 0.83 0.54 0.71 0.56 rs164544 COSM3762229 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6288 0.8478 0.7016 0.5412 0.8271 0.6289 0.5448 0.5865 0.6703 0.6591 0.8392 0.6906 0.4899 0.8439 0.6164 0.5493 0.6063 het 1391.30 110 6 94067981 . C T 1391.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.218;DP=110;Dels=0.00;FS=0.718;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;MQRankSum=-0.817;QD=12.65;ReadPosRankSum=-1.949;VQSLOD=5.4233;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,58:110:99:1421,0,1328 6 96651740 96651740 A G exonic FUT9 nonsynonymous SNV FUT9:NM_006581:exon3:c.A709G:p.T237A 0.9 0.65 0.98 0.99 1. 0.97 0.9688 0.7065 0.9857 0.9982 0.9998 0.9976 0.9833 0.9765 0.9 0.71 1. 0.84 0.89 rs3811069 . . . . . . . . . . . . . 0.047 0.403 D 0.0 0.026 B 0.007 0.121 B 0.000 0.477 N 0.897 0.277 P 0.405 0.124 N 1.81 0.252 T -0.06 0.079 N 0.039 0.019 -0.963 0.386 T 0.010 0.039 T . . . 1.216 0.212 11.83 0.952 0.257 0.901 0.508 D c -0.448 -0.259 0.000 0.012 0.554 0.246 0 1.82 0.241 1.806 0.383 1.140 0.893 1.000 0.715 1.000 0.888 4.283 0.102 . . . 0.9746 0.6999 0.9857 0.9963 0.9988 0.9995 0.9977 0.9844 0.9754 0.9137 0.6995 0.9749 1 0.9988 0.9994 0.9993 0.9806 hom 475.87 15 6 96651740 . A G 475.87 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.72;VQSLOD=13.8668;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:509,39,0 6 96999725 96999725 C T exonic UFL1 synonymous SNV UFL1:NM_015323:exon17:c.C1911T:p.D637D 0.33 0.33 0.29 0.31 0.37 0.33 0.3383 0.3341 0.2402 0.2944 0.3207 0.3573 0.3662 0.3612 0.34 0.33 0.35 0.37 0.3 rs1127175 COSM451949 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3310 0.3316 0.2348 0.3655 0.2871 0.3319 0.3546 0.3498 0.3580 0.3404 0.3366 0.2566 0.4007 0.2797 0.3366 0.3539 0.3326 hom 1054.89 39 6 96999725 . C T 1054.89 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.7887;MQ=58.81;MQ0=0;QD=27.05;VQSLOD=7.3278;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:84.26:1088,84,0 6 97052754 97052754 C T exonic FHL5 synonymous SNV FHL5:NM_001170807:exon3:c.C288T:p.N96N,FHL5:NM_001322466:exon3:c.C288T:p.N96N,FHL5:NM_001322467:exon4:c.C288T:p.N96N,FHL5:NM_020482:exon4:c.C288T:p.N96N 0.14 0.11 0.18 0.036 0.21 0.16 0.1654 0.1074 0.1728 0.0431 0.1116 0.1902 0.1825 0.1814 0.17 0.11 0.19 0.15 0.16 rs2064947 COSM4419868 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1656 0.1061 0.1644 0.2113 0.0371 0.1202 0.1933 0.1871 0.1830 0.1453 0.1082 0.1734 0.2450 0.0222 0.1239 0.1810 0.1558 hom 5519.60 184 6 97052754 . C T 5519.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.033;DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0517;MQ=59.25;MQ0=0;MQRankSum=0.501;QD=30.00;ReadPosRankSum=-0.047;VQSLOD=8.3970;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,182:184:99:5448,365,0 6 97058553 97058553 A G exonic FHL5 nonsynonymous SNV FHL5:NM_001170807:exon5:c.A610G:p.R204G,FHL5:NM_001322466:exon5:c.A610G:p.R204G,FHL5:NM_001322467:exon6:c.A610G:p.R204G,FHL5:NM_020482:exon6:c.A610G:p.R204G 0.4 0.55 0.3 0.35 0.35 0.36 0.3485 0.5153 0.2473 0.3367 0.2856 0.3397 0.3700 0.3799 0.39 0.51 0.33 0.48 0.33 rs2273621 COSM4004156 1(haematopoietic_and_lymphoid_tissue);1(liver);2(thyroid) . . . . . . . . . . . 0.008 0.682 D 0.051 0.210 B 0.12 0.306 B 0.007 0.318 N 0.127 0.356 P 3.03 0.867 M -2.32 0.879 D -5.21 0.837 D 0.204 0.328 0.066 0.835 D 0.573 0.846 D . . . 4.305 0.576 24.0 0.994 0.647 0.943 0.606 D c 0.142 0.232 1.000 0.427 0.487 0.133 0 4.7 0.586 4.659 0.610 1.199 0.960 1.000 0.715 0.994 0.587 13.127 0.586 Zinc finger\x2c LIM-type ENSG00000217331.1 Artery_Tibial 0.3403 0.5186 0.2436 0.3731 0.3268 0.3050 0.3392 0.3519 0.3820 0.3806 0.5101 0.2673 0.4040 0.3173 0.3068 0.3389 0.3289 hom 7543.47 242 6 97058553 . A G 7543.47 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.510;DP=242;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.6034;MQ=58.67;MQ0=0;MQRankSum=-1.430;QD=31.17;ReadPosRankSum=0.654;VQSLOD=4.8676;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,241:242:99:7504,578,0 6 97058567 97058567 A G exonic FHL5 synonymous SNV FHL5:NM_001170807:exon5:c.A624G:p.P208P,FHL5:NM_001322466:exon5:c.A624G:p.P208P,FHL5:NM_001322467:exon6:c.A624G:p.P208P,FHL5:NM_020482:exon6:c.A624G:p.P208P 0.14 0.12 0.18 0.036 0.21 0.16 0.1654 0.1086 0.1731 0.0433 0.1120 0.1898 0.1817 0.1812 0.17 0.11 0.19 0.14 0.15 rs2273622 COSM4161392 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1659 0.1080 0.1643 0.2114 0.0372 0.1202 0.1932 0.1869 0.1844 0.1457 0.1088 0.1730 0.2483 0.0222 0.1241 0.1811 0.1578 hom 7497.51 248 6 97058567 . A G 7497.51 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.442;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7794;MQ=58.85;MQ0=0;MQRankSum=0.015;QD=30.23;ReadPosRankSum=-1.257;VQSLOD=7.2618;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,246:248:99:7423,544,0 6 97063522 97063522 C G exonic FHL5 nonsynonymous SNV FHL5:NM_001170807:exon6:c.C729G:p.S243R,FHL5:NM_001322466:exon6:c.C729G:p.S243R,FHL5:NM_001322467:exon7:c.C729G:p.S243R,FHL5:NM_020482:exon7:c.C729G:p.S243R 0.38 0.5 0.3 0.35 0.35 0.35 0.3430 0.4786 0.2381 0.3339 0.2858 0.3384 0.3650 0.3761 0.38 0.48 0.33 0.4 0.34 rs9373985 COSM4004157 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.020 0.272 N 0.553 0.313 P -1.78 0.003 N -2.2 0.869 D 5.14 0.000 N 0.091 0.135 -1.036 0.187 T 0.078 0.310 T . . . 1.175 0.207 11.61 0.147 0.003 0.839 0.427 D c -0.940 -0.630 0.000 0.052 0.487 0.133 0 3.9 0.441 -0.017 0.124 0.070 0.177 0.775 0.292 0.998 0.697 8.538 0.324 Zinc finger\x2c LIM-type ENSG00000217331.1 Artery_Tibial 0.3336 0.4779 0.2322 0.3813 0.3232 0.3038 0.3360 0.3436 0.3741 0.3702 0.4774 0.2596 0.4205 0.3154 0.3045 0.3369 0.3269 hom 2149.20 70 6 97063522 . C G 2149.20 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=30.70;VQSLOD=8.2515;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2182,166,0 6 97063555 97063555 A G exonic FHL5 synonymous SNV FHL5:NM_001170807:exon6:c.A762G:p.K254K,FHL5:NM_001322466:exon6:c.A762G:p.K254K,FHL5:NM_001322467:exon7:c.A762G:p.K254K,FHL5:NM_020482:exon7:c.A762G:p.K254K 0.38 0.5 0.3 0.35 0.35 0.35 0.3443 0.4834 0.2391 0.3350 0.2866 0.3393 0.3664 0.3772 0.39 0.49 0.33 0.4 0.34 rs9398148 COSM4004158 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3353 0.4829 0.2331 0.3829 0.3245 0.3053 0.3372 0.3473 0.3768 0.3732 0.4825 0.2602 0.4205 0.3166 0.3065 0.3396 0.3286 hom 2835.77 89 6 97063555 . A G 2835.77 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6978;MQ=59.27;MQ0=0;QD=31.86;VQSLOD=9.2404;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2869,223,0 6 97247566 97247566 T A exonic GPR63 synonymous SNV GPR63:NM_030784:exon2:c.A42T:p.T14T,GPR63:NM_001143957:exon3:c.A42T:p.T14T 0.07 0.031 0.089 0.002 0.14 0.11 0.1068 0.0487 0.0550 0.0008 0.1242 0.1365 0.1355 0.1068 0.11 0.053 0.14 0.033 0.082 rs392127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1052 0.0478 0.0606 0.1900 0.0005 0.1181 0.1316 0.1156 0.1068 0.0991 0.0506 0.0811 0.1887 0.0006 0.1241 0.1290 0.1324 het 2255.62 205 6 97247566 . T A 2255.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.289;DP=205;Dels=0.00;FS=11.712;HRun=1;HaplotypeScore=2.8095;MQ=59.55;MQ0=0;MQRankSum=2.037;QD=11.00;ReadPosRankSum=-0.238;VQSLOD=3.6917;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,92:205:99:2286,0,2775 6 97339088 97339088 C T exonic NDUFAF4 synonymous SNV NDUFAF4:NM_014165:exon3:c.G420A:p.Q140Q 0.93 0.97 0.92 1. 0.87 0.9 0.8944 0.9512 0.9460 0.9991 0.8762 0.8633 0.8675 0.9025 0.89 0.95 0.86 0.95 0.87 rs11402 . . Likely benign|Benign not_specified|Mitochondrial_complex_I_deficiency RCV000117706.2|RCV000328919.1 MedGen|MedGen:OMIM CN169374|C1838979:252010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8960 0.9526 0.9406 0.8081 0.9994 0.8822 0.8679 0.8852 0.9031 0.9008 0.9497 0.9212 0.8113 0.9994 0.8757 0.8704 0.8676 het 615.19 53 6 97339088 . C T 615.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.153;DP=53;Dels=0.00;FS=3.824;HRun=1;HaplotypeScore=0.8941;MQ=58.85;MQ0=0;MQRankSum=-0.098;QD=11.61;ReadPosRankSum=0.616;VQSLOD=6.1946;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:645,0,829 6 97677118 97677118 G A exonic MMS22L nonsynonymous SNV MMS22L:NM_001350600:exon13:c.C842T:p.T281M,MMS22L:NM_001350599:exon14:c.C1691T:p.T564M,MMS22L:NM_198468:exon14:c.C1691T:p.T564M 0.53 0.47 0.55 0.24 0.77 0.65 0.6500 0.5078 0.4465 0.2136 0.7257 0.7498 0.6817 0.6754 0.67 0.5 0.75 0.5 0.76 rs9481410 COSM4004161 2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.037 0.531 D 0.992 0.629 D 0.809 0.568 P 0.049 0.232 N 1 0.090 P 2.095 0.583 M 1.53 0.304 T -1.48 0.362 N 0.073 0.111 -1.045 0.157 T 0.071 0.290 T . . . 1.306 0.221 12.30 0.989 0.480 0.105 0.158 N c -0.464 -0.618 0.413 0.202 0.638 0.428 0 3.72 0.417 0.456 0.214 0.074 0.181 0.000 0.063 0.022 0.137 10.527 0.440 Protein MMS22-like\x2c N-terminal ENSG00000146263.7|ENSG00000146263.7|ENSG00000146263.7|ENSG00000146263.7|ENSG00000146263.7|ENSG00000146263.7|ENSG00000146263.7|ENSG00000146263.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Skin_Sun_Exposed_Lower_leg|Stomach 0.6496 0.5104 0.4717 0.7658 0.2109 0.7339 0.7546 0.6847 0.6736 0.6431 0.5108 0.5467 0.7715 0.1809 0.7332 0.7487 0.6878 hom 2572.49 92 6 97677118 . G A 2572.49 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.88;MQ0=0;QD=27.96;VQSLOD=8.1950;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2605,199,0 6 99283376 99283376 T G exonic POU3F2 synonymous SNV POU3F2:NM_005604:exon1:c.T627G:p.G209G 0.89 0.9 0.91 0.95 0.86 0.83 0.8653 0.9118 0.9285 0.9495 0.8907 0.8534 0.8581 0.8145 0.88 0.91 0.87 0.11 0.34 rs195860 COSM3749991 8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8617 0.8945 0.9224 0.7227 0.9515 0.8852 0.8536 0.8429 0.8057 0.8775 0.9023 0.8834 0.7637 0.9490 0.8915 0.8555 0.8549 hom 381.30 12 6 99283376 . T G 381.30 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=31.78;VQSLOD=8.4838;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:414,33,0 6 99817601 99817601 A G exonic COQ3 nonsynonymous SNV COQ3:NM_017421:exon7:c.T985C:p.Y329H 0.95 0.82 0.99 1. 1. 1. 0.9844 0.8278 0.9940 1 1 0.9997 0.9934 0.9999 0.94 0.83 1. 0.94 1. rs4144164 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.213 P -1.615 0.004 N 2.13 0.275 T 4.05 0.001 N 0.155 0.185 -0.976 0.360 T 0.007 0.022 T . . . 1.511 0.244 13.37 0.264 0.013 0.046 0.102 N c -0.792 -0.492 1.000 0.747 0.742 0.980 0 5.08 0.682 4.898 0.627 0.076 0.183 1.000 0.715 0.971 0.463 14.113 0.645 . . . 0.9881 0.8266 0.9942 0.9991 0.9999 1 0.9997 0.9932 0.9997 0.9508 0.8278 0.9904 1 1 1 0.9999 0.9877 hom 5920.90 178 6 99817601 . A G 5920.90 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7320;MQ=58.82;MQ0=0;QD=33.26;VQSLOD=9.6787;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5920,460,0 6 99819379 99819379 T C exonic COQ3 nonsynonymous SNV COQ3:NM_017421:exon6:c.A814G:p.S272G 0.84 0.7 0.91 0.86 0.83 0.94 0.8480 0.7137 0.9287 0.8627 0.8316 0.8360 0.8587 0.9227 0.79 0.71 0.84 0.74 0.81 rs6925344 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -3.135 0.000 N 2.61 0.264 T 2.22 0.003 N 0.017 0.003 -0.950 0.411 T 0.004 0.012 T . . . 0.430 0.135 6.874 0.392 0.027 0.302 0.238 N c -1.048 -0.748 0.004 0.104 0.706 0.609 0 4.36 0.515 2.078 0.410 0.067 0.174 0.998 0.411 0.994 0.587 11.905 0.518 S-adenosyl-L-methionine-dependent methyltransferase . . 0.8513 0.7098 0.9237 0.7999 0.8605 0.8301 0.8374 0.8533 0.9222 0.7969 0.7142 0.8950 0.7914 0.8352 0.8181 0.8275 0.8446 hom 2537.83 86 6 99819379 . T C 2537.83 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9874;MQ=58.56;MQ0=0;QD=29.51;VQSLOD=8.1700;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2571,196,0 6 99883704 99883704 T C exonic USP45 nonsynonymous SNV USP45:NM_001346024:exon16:c.A2159G:p.N720S,USP45:NM_001346025:exon16:c.A2156G:p.N719S,USP45:NM_001346028:exon17:c.A1253G:p.N418S,USP45:NM_001080481:exon18:c.A2333G:p.N778S,USP45:NM_001346021:exon18:c.A2333G:p.N778S,USP45:NM_001346022:exon18:c.A2333G:p.N778S,USP45:NM_001346023:exon18:c.A2330G:p.N777S,USP45:NM_001346027:exon18:c.A1253G:p.N418S,USP45:NM_001346029:exon18:c.A1253G:p.N418S 0.98 0.95 0.99 1. 1. 1. 0.9949 0.9428 0.9979 1 1 0.9999 0.9989 0.9999 0.98 0.94 1. 0.98 0.7 rs6570065 . . . . . . . . . . . . . 1.0 0.073 T 0.0 0.026 B 0.0 0.013 B 0.009 0.306 N 1 0.090 P -1.59 0.004 N 3.77 0.301 T 0.86 0.018 N 0.003 0.000 -0.942 0.424 T 0.006 0.021 T . . . -0.335 0.066 0.551 0.834 0.142 0.043 0.097 N c -1.016 -0.798 0.903 0.261 0.651 0.465 0 4.88 0.630 1.743 0.377 -0.364 0.068 0.717 0.286 0.525 0.275 6.886 0.232 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain . . 0.9961 0.9431 0.9985 1 1 1 0.9999 0.9980 1.0000 0.9840 0.9440 0.9976 1 1 1 0.9999 0.9949 hom 4548.76 147 6 99883704 . T C 4548.76 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6369;MQ=58.53;MQ0=0;QD=30.94;VQSLOD=7.5564;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4548,346,0 6 99893878 99893878 T C exonic USP45 synonymous SNV USP45:NM_001346024:exon12:c.A1596G:p.L532L,USP45:NM_001346025:exon12:c.A1593G:p.L531L,USP45:NM_001346028:exon13:c.A690G:p.L230L,USP45:NM_001080481:exon14:c.A1770G:p.L590L,USP45:NM_001346021:exon14:c.A1770G:p.L590L,USP45:NM_001346022:exon14:c.A1770G:p.L590L,USP45:NM_001346023:exon14:c.A1767G:p.L589L,USP45:NM_001346026:exon14:c.A1770G:p.L590L,USP45:NM_001346027:exon14:c.A690G:p.L230L,USP45:NM_001346029:exon14:c.A690G:p.L230L 0.065 0.0038 0.15 0.001 0.19 0.03 0.1516 0.0358 0.1393 0.0007 0.2932 0.2049 0.1493 0.0377 0.15 0.041 0.2 0.054 0.16 rs12203426 COSM3762232 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1549 0.0314 0.1506 0.0908 0.0003 0.2939 0.2073 0.1639 0.0360 0.1670 0.0351 0.1316 0.0828 0.0012 0.2919 0.2321 0.2322 hom 2097.90 60 6 99893878 . T C 2097.90 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.97;VQSLOD=14.6141;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2131,169,0 6 100964147 100964147 G C exonic ASCC3 nonsynonymous SNV ASCC3:NM_006828:exon39:c.C5984G:p.S1995C 0.77 0.95 0.61 0.79 0.58 0.81 0.6592 0.8923 0.6049 0.7698 0.6071 0.5926 0.6498 0.7828 0.68 0.87 0.58 0.81 0.63 rs240780 COSM1132075 3(prostate);2(large_intestine) . . . . . . . . . . . 0.693 0.043 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.985 0.247 P -0.535 0.025 N -0.19 0.659 T 0.16 0.052 N 0.064 0.049 -1.100 0.041 T 0.061 0.256 T . . . 2.576 0.371 19.95 0.436 0.033 0.041 0.095 N c -0.549 -0.347 1.000 0.747 0.732 0.924 0 4.96 0.650 3.101 0.497 0.038 0.153 1.000 0.715 0.874 0.366 14.899 0.702 Sec63 domain ENSG00000112249.9|ENSG00000112249.9 Cells_Transformed_fibroblasts|Esophagus_Mucosa 0.6461 0.8946 0.5946 0.5328 0.7735 0.6050 0.5897 0.6247 0.7814 0.6871 0.8855 0.5766 0.5364 0.78 0.6023 0.5938 0.6401 het 1878.86 125 6 100964147 . G C 1878.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.169;DP=125;Dels=0.00;FS=1.604;HRun=0;HaplotypeScore=2.7252;MQ=59.67;MQ0=0;MQRankSum=-0.429;QD=15.03;ReadPosRankSum=1.450;VQSLOD=5.3726;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,68:125:99:1909,0,1554 6 101094554 101094554 A G exonic ASCC3 synonymous SNV ASCC3:NM_006828:exon22:c.T3570C:p.P1190P 0.57 0.6 0.62 0.73 0.54 0.37 0.5419 0.5987 0.6652 0.7450 0.5253 0.5234 0.5487 0.3948 0.55 0.59 0.53 0.6 0.51 rs239239 COSM3761400 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5516 0.6027 0.6653 0.5681 0.7432 0.5379 0.5240 0.5666 0.3972 0.5644 0.5981 0.6734 0.5629 0.7243 0.5424 0.5276 0.55 het 1621.72 107 6 101094554 . A G 1621.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.542;DP=107;Dels=0.00;FS=0.723;HRun=2;HaplotypeScore=3.7300;MQ=59.12;MQ0=0;MQRankSum=-0.467;QD=15.16;ReadPosRankSum=0.279;VQSLOD=5.7641;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,59:107:99:1652,0,1308 6 101166095 101166095 G A exonic ASCC3 synonymous SNV ASCC3:NM_001284271:exon12:c.C1935T:p.L645L,ASCC3:NM_006828:exon12:c.C1935T:p.L645L 0.46 0.47 0.39 0.31 0.48 0.61 0.4817 0.4560 0.3449 0.3019 0.5008 0.5011 0.4791 0.6010 0.48 0.46 0.5 0.45 0.5 rs41288423 COSM150147 1(stomach);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4708 0.4540 0.3449 0.4478 0.3022 0.4871 0.5004 0.4592 0.6007 0.4743 0.4542 0.3398 0.4470 0.3340 0.4808 0.5069 0.4836 het 783.81 106 6 101166095 . G A 783.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.804;DP=106;Dels=0.00;FS=5.309;HRun=1;HaplotypeScore=0.9992;MQ=59.07;MQ0=0;MQRankSum=-1.144;QD=7.39;ReadPosRankSum=-0.030;VQSLOD=4.1359;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,36:106:99:814,0,1796 6 101296389 101296389 G A exonic ASCC3 nonsynonymous SNV ASCC3:NM_001284271:exon4:c.C436T:p.L146F,ASCC3:NM_006828:exon4:c.C436T:p.L146F 0.25 0.063 0.41 0.23 0.45 0.17 0.3651 0.1243 0.3925 0.2457 0.4171 0.4458 0.3833 0.2120 0.35 0.14 0.46 0.2 0.34 rs9390698 COSM150148 1(stomach);3(prostate);2(large_intestine) . . . . . . . . . . . 0.144 0.323 T 0.037 0.195 B 0.018 0.173 B 0.000 0.629 D 0.287 0.335 P 2.28 0.651 M 0.37 0.591 T -0.92 0.495 N 0.407 0.465 -0.920 0.456 T 0.120 0.419 T . . . 1.440 0.236 13.00 0.993 0.584 0.971 0.725 D c -0.018 0.134 0.696 0.226 0.719 0.830 0 4.97 0.653 2.560 0.453 1.048 0.713 0.998 0.411 1.000 0.888 16.862 0.858 . ENSG00000112249.9|ENSG00000112249.9|ENSG00000112249.9|ENSG00000112249.9|ENSG00000112249.9 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.3771 0.1198 0.4066 0.4834 0.2429 0.4233 0.4492 0.4084 0.2146 0.3395 0.1314 0.4354 0.4834 0.2221 0.4266 0.4409 0.3971 het 1038.63 59 6 101296389 . G A 1038.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.622;DP=59;Dels=0.00;FS=5.403;HRun=2;HaplotypeScore=1.8154;MQ=58.54;MQ0=0;MQRankSum=0.415;QD=17.60;ReadPosRankSum=-0.039;VQSLOD=4.7942;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,37:59:99:1069,0,617 6 102266322 102266322 C G exonic GRIK2 synonymous SNV GRIK2:NM_001166247:exon9:c.C1281G:p.S427S,GRIK2:NM_021956:exon9:c.C1281G:p.S427S,GRIK2:NM_175768:exon9:c.C1281G:p.S427S 0.033 0.012 0.05 0.027 0.054 0.033 0.0467 0.0153 0.0202 0.0196 0.0802 0.0592 0.0493 0.0356 0.046 0.017 0.061 0.033 0.049 rs34747916 . . Likely benign not_specified RCV000117159.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0463 0.0132 0.0215 0.0575 0.0188 0.0805 0.0572 0.0576 0.0354 0.0493 0.0151 0.0347 0.0596 0.0235 0.0821 0.0637 0.0684 het 1004.39 96 6 102266322 . C G 1004.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.859;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.22;MQ0=0;MQRankSum=0.267;QD=10.46;ReadPosRankSum=-0.156;VQSLOD=6.2997;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,41:96:99:1034,0,1456 6 102503317 102503317 G A exonic GRIK2 synonymous SNV GRIK2:NM_001166247:exon15:c.G2424A:p.E808E,GRIK2:NM_021956:exon15:c.G2424A:p.E808E,GRIK2:NM_175768:exon15:c.G2424A:p.E808E 0.33 0.24 0.41 0.36 0.44 0.24 0.3913 0.2800 0.4330 0.3415 0.4061 0.4325 0.4174 0.2847 0.39 0.28 0.44 0.42 0.44 rs2227283 COSM3761402;COSM3761403;COSM3761401 3(haematopoietic_and_lymphoid_tissue);1(prostate);2(large_intestine) Likely benign not_specified RCV000117164.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3980 0.2808 0.4352 0.4277 0.3436 0.4117 0.4361 0.4197 0.2857 0.3813 0.2790 0.4450 0.3874 0.3371 0.4137 0.4330 0.4002 het 680.11 77 6 102503317 . G A 680.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.491;DP=77;Dels=0.00;FS=3.218;HRun=1;HaplotypeScore=0.9958;MQ=58.91;MQ0=0;MQRankSum=0.966;QD=8.83;ReadPosRankSum=-1.697;VQSLOD=4.9014;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,30:77:99:710,0,1371 6 105198267 105198267 A G exonic HACE1 synonymous SNV HACE1:NM_001350555:exon17:c.T2001C:p.F667F,HACE1:NM_001350557:exon18:c.T1788C:p.F596F,HACE1:NM_001350559:exon18:c.T1710C:p.F570F,HACE1:NM_001350560:exon18:c.T1509C:p.F503F,HACE1:NM_001321080:exon19:c.T2160C:p.F720F,HACE1:NM_001321084:exon19:c.T1788C:p.F596F,HACE1:NM_001350556:exon19:c.T1806C:p.F602F,HACE1:NM_001350558:exon19:c.T1788C:p.F596F,HACE1:NM_001321083:exon20:c.T2190C:p.F730F,HACE1:NM_001350554:exon20:c.T2058C:p.F686F,HACE1:NM_020771:exon20:c.T2292C:p.F764F 0.17 0.37 0.14 0.003 0.15 0.14 0.1650 0.3593 0.1772 0.0037 0.1153 0.1594 0.1303 0.1622 0.23 0.35 0.16 0.22 0.19 rs7752614 COSM1178508 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1598 0.3633 0.1762 0.1716 0.0048 0.1172 0.1583 0.1601 0.1602 0.1965 0.3632 0.1722 0.1556 0.0080 0.1098 0.1455 0.1530 het 941.72 64 6 105198267 . A G 941.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.380;DP=64;Dels=0.00;FS=5.149;HRun=1;HaplotypeScore=3.7868;MQ=59.35;MQ0=0;MQRankSum=0.673;QD=14.71;ReadPosRankSum=-1.366;VQSLOD=5.0454;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,40:64:99:972,0,634 6 105821449 105821449 A G exonic PREP synonymous SNV PREP:NM_002726:exon5:c.T390C:p.Y130Y 0.35 0.82 0.2 0.002 0.29 0.23 0.2816 0.7509 0.1520 0.0014 0.1809 0.2807 0.2804 0.2566 0.43 0.74 0.28 0.49 0.31 rs9486069 COSM3761408 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2575 0.7569 0.1570 0.2864 0.0016 0.1647 0.2765 0.2585 0.2524 0.3731 0.7368 0.1826 0.2682 0.0031 0.1601 0.2722 0.2459 hom 1907.64 57 6 105821449 . A G 1907.64 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2824;MQ=59.60;MQ0=0;QD=33.47;VQSLOD=9.4352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1941,156,0 6 106967185 106967185 A C exonic CRYBG1 nonsynonymous SNV CRYBG1:NM_001624:exon2:c.A878C:p.Q293P 0.21 0.2 0.19 0.054 0.24 0.35 0.2424 0.2044 0.2261 0.0536 0.1992 0.2562 0.2522 0.3380 0.24 0.21 0.26 0.24 0.19 rs1159148 . . . . . . . . . . . . . 0.314 0.138 T 0.0 0.026 B 0.0 0.013 B 0.155 0.030 N 1 0.090 P -0.895 0.014 N -0.54 0.710 T 1.05 0.013 N 0.015 0.015 -1.106 0.034 T 0.055 0.233 T . . . -0.694 0.045 0.074 0.501 0.043 0.004 0.021 N c -1.181 -1.099 1.000 0.747 0.651 0.465 0 2.58 0.299 1.166 0.312 0.067 0.174 0.001 0.137 0.010 0.111 8.426 0.317 . ENSG00000130348.7|ENSG00000112297.10|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000112297.10 Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach 0.2392 0.2012 0.2222 0.2370 0.0497 0.2036 0.2600 0.2441 0.3327 0.2196 0.2013 0.2100 0.2318 0.0388 0.2082 0.2533 0.2133 hom 2836.13 92 6 106967185 . A C 2836.13 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.6699;MQ=59.50;MQ0=0;QD=30.83;VQSLOD=7.5850;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2869,226,0 6 106987370 106987370 A C exonic CRYBG1 nonsynonymous SNV CRYBG1:NM_001624:exon7:c.A3587C:p.E1196A 0.94 0.94 0.92 0.93 0.9 0.97 0.9325 0.9371 0.9219 0.9448 0.9235 0.9263 0.9119 0.9608 0.93 0.94 0.92 0.95 0.89 rs783396 . . . . . . . . . . . . . 0.427 0.096 T 0.0 0.026 B 0.005 0.104 B 0.219 0.162 N 0.937 0.269 P 1.53 0.389 L -0.82 0.741 T -3.1 0.635 D 0.028 0.191 -1.070 0.094 T 0.117 0.414 T . . . 1.331 0.224 12.43 0.792 0.122 0.703 0.343 D c -0.804 -0.696 1.000 0.408 0.706 0.609 0 0.517 0.161 1.258 0.323 -0.337 0.073 1.000 0.715 0.899 0.380 16.113 0.810 Beta/gamma crystallin|Gamma-crystallin-related ENSG00000130348.7|ENSG00000112297.10 Heart_Left_Ventricle|Nerve_Tibial 0.9312 0.9353 0.9223 0.9094 0.9420 0.9292 0.9267 0.9177 0.9601 0.9350 0.9391 0.9236 0.9338 0.9433 0.9330 0.9329 0.9347 hom 5186.55 162 6 106987370 . A C 5186.55 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=32.02;VQSLOD=10.0238;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5186,394,0 6 106992464 106992464 A G exonic CRYBG1 synonymous SNV CRYBG1:NM_001624:exon10:c.A3834G:p.K1278K 0.97 1. 0.95 1. 0.9 0.98 0.9469 0.9868 0.9640 0.9999 0.9239 0.9268 0.9251 0.9734 0.94 0.99 0.92 0.99 0.89 rs1799693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9453 0.9879 0.9579 0.9099 0.9999 0.9294 0.9273 0.9274 0.9710 0.9525 0.9867 0.9499 0.9338 1 0.9338 0.9329 0.9420 hom 3014.96 100 6 106992464 . A G 3014.96 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=30.15;VQSLOD=8.7521;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3048,229,0 6 106999822 106999822 G A exonic CRYBG1 nonsynonymous SNV CRYBG1:NM_001624:exon12:c.G4184A:p.C1395Y 0.2 0.12 0.2 0.057 0.29 0.36 0.2690 0.1467 0.2292 0.0575 0.2401 0.3038 0.2599 0.3558 0.25 0.15 0.31 0.17 0.17 rs2297970 COSM3761411;COSM150149 1(stomach);1(large_intestine) . . . . . . . . . . . 0.095 0.312 T 0.137 0.307 B 0.115 0.412 B 0.002 0.373 N 0.213 0.354 P 0.55 0.145 N -0.95 0.754 T -4.63 0.872 D 0.215 0.406 -0.859 0.514 T 0.154 0.485 T . . . 2.309 0.339 18.22 0.893 0.181 0.837 0.425 D c -0.120 0.054 0.999 0.398 0.732 0.924 0 5.03 0.669 1.286 0.327 1.048 0.713 1.000 0.715 1.000 0.888 8.493 0.321 Beta/gamma crystallin|Gamma-crystallin-related ENSG00000130348.7|ENSG00000229654.1|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130347.8|ENSG00000130348.7|ENSG00000130347.8|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130347.8|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000130348.7|ENSG00000112297.10|ENSG00000130348.7|ENSG00000130348.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid 0.2656 0.1404 0.2242 0.3036 0.0530 0.2474 0.3046 0.2758 0.3505 0.2370 0.1426 0.2230 0.3013 0.0414 0.2487 0.3074 0.2739 hom 4254.16 140 6 106999822 . G A 4254.16 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=58.89;MQ0=0;QD=30.39;VQSLOD=8.4566;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4253,340,0 6 107113715 107113715 G A exonic QRSL1 synonymous SNV QRSL1:NM_018292:exon11:c.G1425A:p.L475L 0.33 0.31 0.4 0.16 0.46 0.36 0.4388 0.3447 0.4541 0.1597 0.4856 0.5010 0.3918 0.3663 0.45 0.36 0.5 0.3 0.44 rs2015205 COSM4160102 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4389 0.3438 0.4511 0.3627 0.1656 0.5006 0.5064 0.4301 0.3627 0.4446 0.3391 0.4569 0.3477 0.1628 0.5009 0.5200 0.5164 hom 3468.91 122 6 107113715 . G A 3468.91 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59.50;MQ0=0;QD=28.43;VQSLOD=8.3305;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3468,271,0 6 107391213 107391213 C T exonic BEND3 synonymous SNV BEND3:NM_001080450:exon5:c.G1182A:p.T394T 0.069 0.06 0.076 0.059 0.093 0.06 0.0765 0.0706 0.0808 0.0579 0.0688 0.0797 0.0778 0.0772 0.08 0.073 0.084 0.11 0.09 rs3814072 COSM3761414 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0756 0.0692 0.0810 0.0592 0.0593 0.0637 0.0813 0.0721 0.0754 0.0786 0.0703 0.0776 0.0364 0.0525 0.0720 0.0891 0.0714 het 1977.99 175 6 107391213 . C T 1977.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.456;DP=175;Dels=0.00;FS=6.679;HRun=0;HaplotypeScore=6.3751;MQ=59.45;MQ0=0;MQRankSum=-0.946;QD=11.30;ReadPosRankSum=0.769;VQSLOD=3.9763;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:96,79:175:99:2008,0,2450 6 108233929 108233929 G A exonic SEC63 synonymous SNV SEC63:NM_007214:exon6:c.C564T:p.N188N 0.85 0.91 0.9 0.71 0.85 0.9 0.8589 0.9068 0.9097 0.7208 0.8310 0.8536 0.8522 0.8986 0.88 0.9 0.86 0.89 0.69 rs675117 . . Benign|Benign not_specified|Polycystic_liver_disease RCV000081500.5|RCV000327952.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0006557:CN005712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8589 0.9077 0.9009 0.8737 0.7192 0.8298 0.8554 0.8591 0.8959 0.8638 0.9073 0.8852 0.8874 0.7379 0.8278 0.8588 0.8633 hom 1108.76 40 6 108233929 . G A 1108.76 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.21;MQ0=0;QD=27.72;VQSLOD=8.0547;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:87.28:1142,87,0 6 109768568 109768568 G T exonic MICAL1 nonsynonymous SNV MICAL1:NM_001159291:exon15:c.C1804A:p.H602N,MICAL1:NM_001286613:exon16:c.C2119A:p.H707N,MICAL1:NM_022765:exon16:c.C2062A:p.H688N 0.0018 . . . 0.0089 . 0.0072 0.0013 8.648e-05 0 0.0355 0.0092 0.0056 0 0.0042 0.0027 0.005 . 0.0082 rs41288558 . . . . . . . . . . . . . 0.654 0.067 T 0.0 0.026 B 0.001 0.040 B 0.464 0.049 N 1 0.090 N 0.69 0.170 N 0.8 0.488 T -0.17 0.121 N 0.067 0.165 -0.963 0.387 T 0.017 0.071 T . . . 0.592 0.151 8.104 0.781 0.117 0.252 0.224 N c -0.539 -0.601 1.000 0.480 0.732 0.924 0 1.17 0.199 0.321 0.192 0.953 0.551 0.000 0.063 0.867 0.362 4.961 0.133 Calponin homology domain . . 0.0067 0.0012 0.0002 0.0002 0 0.0342 0.0075 0.0049 0 0.0081 0.0008 0 0 0 0.0321 0.0078 0.0163 het 670.53 67 6 109768568 . G T 670.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.798;DP=67;Dels=0.00;FS=1.005;HRun=2;HaplotypeScore=2.6921;MQ=59.44;MQ0=0;MQRankSum=-0.753;QD=10.01;ReadPosRankSum=0.933;VQSLOD=5.9126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,26:67:99:701,0,1108 6 109770869 109770869 G A exonic MICAL1 synonymous SNV MICAL1:NM_001159291:exon9:c.C1167T:p.T389T,MICAL1:NM_001286613:exon10:c.C1482T:p.T494T,MICAL1:NM_022765:exon10:c.C1425T:p.T475T 0.039 0.003 0.17 . 0.056 0.015 0.0703 0.0127 0.2335 0.0001 0.0873 0.0646 0.0691 0.0279 0.047 0.015 0.063 0.054 0.057 rs752261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0761 0.0110 0.2249 0.0554 0.0001 0.0868 0.0640 0.0699 0.0258 0.0503 0.0128 0.1706 0.0695 0 0.0825 0.0618 0.0694 het 596.87 64 6 109770869 . G A 596.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.621;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=1.083;QD=9.33;ReadPosRankSum=0.276;VQSLOD=6.5834;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,24:64:99:627,0,1145 6 109954252 109954252 C T exonic AK9 synonymous SNV AK9:NM_001145128:exon12:c.G1128A:p.L376L,AK9:NM_001329602:exon12:c.G1128A:p.L376L,AK9:NM_145025:exon12:c.G1128A:p.L376L,AK9:NM_001329603:exon13:c.G1344A:p.L448L 0.65 0.32 0.73 0.85 0.64 0.85 0.6700 0.3609 0.7837 0.8393 0.6872 0.6416 0.7014 0.8312 0.55 0.37 0.64 0.66 0.67 rs1406957 COSM450314;COSM450315 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6728 0.3551 0.7591 0.7262 0.8393 0.6889 0.6357 0.6760 0.8227 0.5801 0.3602 0.7434 0.7384 0.8455 0.6785 0.6364 0.6918 het 1462.39 122 6 109954252 . C T 1462.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.541;DP=122;Dels=0.00;FS=1.531;HRun=0;HaplotypeScore=0.9983;MQ=59.12;MQ0=0;MQRankSum=-0.622;QD=11.99;ReadPosRankSum=1.344;VQSLOD=6.3551;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,60:122:99:1492,0,1658 6 109954518 109954518 T C exonic AK9 synonymous SNV AK9:NM_001145128:exon11:c.A942G:p.L314L,AK9:NM_001329602:exon11:c.A942G:p.L314L,AK9:NM_145025:exon11:c.A942G:p.L314L,AK9:NM_001329603:exon12:c.A1158G:p.L386L 0.24 0.11 0.28 0.34 0.22 0.32 0.2522 0.1288 0.3122 0.3214 0.2257 0.2383 0.2517 0.3155 0.2 0.13 0.23 0.26 0.21 rs9374111 COSM150161;COSM150162 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2480 0.1219 0.3000 0.2388 0.3170 0.2200 0.2321 0.2447 0.3101 0.2078 0.1252 0.2685 0.2616 0.2933 0.2112 0.2390 0.2454 het 865.70 56 6 109954518 . T C 865.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.790;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.55;MQ0=0;MQRankSum=1.066;QD=15.46;ReadPosRankSum=-0.508;VQSLOD=6.3761;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,35:56:99:896,0,450 6 110760008 110760008 A G exonic SLC22A16 nonsynonymous SNV SLC22A16:NM_033125:exon5:c.T1226C:p.M409T 0.091 0.012 0.15 . 0.24 0.092 0.1679 0.0388 0.1111 0.0002 0.1539 0.2351 0.1788 0.1104 0.18 0.051 0.24 0.065 0.25 rs12210538 COSM4406886;COSM4406884;COSM4406885 1(breast);1(liver);1(skin) . . . . . . . . . . . 0.004 0.784 D 0.959 0.532 D 0.783 0.556 P 0.000 0.843 D 0.057 0.374 P 2.065 0.569 M -0.81 0.740 T -4.23 0.762 D 0.513 0.556 -0.138 0.792 T 0.405 0.755 T . . . 4.001 0.538 23.6 0.931 0.221 0.956 0.652 D c 0.284 0.163 0.992 0.326 0.487 0.133 0 4.98 0.655 6.407 0.730 1.076 0.850 1.000 0.715 0.005 0.090 14.667 0.684 Major facilitator superfamily domain ENSG00000203797.5|ENSG00000260188.1 Nerve_Tibial|Whole_Blood 0.1689 0.0368 0.1172 0.2743 0.0003 0.1592 0.2355 0.1970 0.1126 0.1485 0.0400 0.1289 0.2781 0.0012 0.1542 0.2234 0.1694 het 1952.14 139 6 110760008 . A G 1952.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.981;DP=139;Dels=0.00;FS=3.234;HRun=0;HaplotypeScore=6.6478;MQ=59.24;MQ0=0;MQRankSum=1.204;QD=14.04;ReadPosRankSum=1.677;VQSLOD=4.5207;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,73:139:99:1982,0,1632 6 110777962 110777962 A G exonic SLC22A16 synonymous SNV SLC22A16:NM_033125:exon2:c.T312C:p.N104N 0.31 0.39 0.24 0.41 0.22 0.26 0.2542 0.3716 0.2266 0.4180 0.1816 0.2210 0.2434 0.2779 0.27 0.36 0.22 0.45 0.19 rs6907567 COSM3761423;COSM3761424;COSM3761425 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2509 0.3704 0.2238 0.3047 0.4158 0.1821 0.2194 0.2510 0.2756 0.2644 0.3650 0.2363 0.3146 0.4294 0.1919 0.2100 0.2010 het 2844.34 238 6 110777962 . A G 2844.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.222;DP=238;Dels=0.00;FS=14.333;HRun=0;HaplotypeScore=2.7759;MQ=58.80;MQ0=0;MQRankSum=0.177;QD=11.95;ReadPosRankSum=-1.556;VQSLOD=3.4275;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,114:238:99:2874,0,2985 6 110778128 110778128 T C exonic SLC22A16 nonsynonymous SNV SLC22A16:NM_033125:exon2:c.A146G:p.H49R 0.31 0.39 0.24 0.41 0.22 0.26 0.2561 0.3724 0.2267 0.4178 0.1817 0.2218 0.2450 0.2896 0.27 0.36 0.22 0.45 0.19 rs714368 COSM3761427;COSM3761426;COSM3761428 1(skin);1(large_intestine) . . . . . . . . . . . 0.161 0.236 T 0.0 0.026 B 0.0 0.013 B 0.540 0.053 N 1 0.090 P -0.55 0.024 N -1.58 0.820 D 0.15 0.069 N 0.183 0.223 -1.103 0.037 T 0.116 0.410 T . . . -2.358 0.004 0.001 0.191 0.006 0.099 0.154 N c -1.737 -1.733 0.689 0.226 0.497 0.185 0 -3.12 0.049 0.846 0.271 -0.248 0.090 0.013 0.187 0.002 0.062 10.625 0.445 . . . 0.2505 0.3701 0.2234 0.3043 0.4156 0.1814 0.2189 0.2504 0.2754 0.2643 0.3644 0.2363 0.3146 0.4293 0.1919 0.2101 0.2020 het 1224.78 82 6 110778128 . T C 1224.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.181;DP=82;Dels=0.00;FS=4.297;HRun=0;HaplotypeScore=1.7653;MQ=58.26;MQ0=0;MQRankSum=-0.823;QD=14.94;ReadPosRankSum=-0.023;VQSLOD=4.9503;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,44:82:99:1255,0,1023 6 111587266 111587266 T C exonic MFSD4B synonymous SNV MFSD4B:NM_153369:exon4:c.T501C:p.D167D 0.43 0.086 0.55 0.43 0.67 0.53 0.5849 0.1651 0.4891 0.4266 0.6102 0.6917 0.6278 0.5545 0.52 0.19 0.7 0.3 0.66 rs11153279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5902 0.1541 0.5092 0.6180 0.4293 0.6050 0.6999 0.6430 0.5584 0.5151 0.1672 0.5346 0.6589 0.4335 0.5943 0.6986 0.5994 het 617.72 82 6 111587266 . T C 617.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.046;DP=82;Dels=0.00;FS=7.967;HRun=0;HaplotypeScore=1.7781;MQ=59.15;MQ0=0;MQRankSum=-0.240;QD=7.53;ReadPosRankSum=-1.159;VQSLOD=3.8160;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,28:82:99:648,0,1465 6 111695073 111695073 C T exonic REV3L synonymous SNV REV3L:NM_002912:exon14:c.G4485A:p.S1495S,REV3L:NM_001286432:exon15:c.G4251A:p.S1417S,REV3L:NM_001286431:exon16:c.G4251A:p.S1417S 0.59 0.37 0.74 0.45 0.79 0.7 0.7159 0.4321 0.6665 0.4526 0.7082 0.8033 0.7555 0.7136 0.69 0.44 0.81 0.43 0.75 rs455645 COSM4409262 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7191 0.4199 0.6775 0.7846 0.4582 0.7051 0.8085 0.7620 0.7166 0.6670 0.4393 0.6826 0.7682 0.4651 0.6989 0.8072 0.7169 het 1248.53 122 6 111695073 . C T 1248.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.457;DP=122;Dels=0.00;FS=2.428;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=0.653;QD=10.23;ReadPosRankSum=0.094;VQSLOD=5.3599;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,49:122:99:1279,0,1817 6 111695268 111695268 C T exonic REV3L synonymous SNV REV3L:NM_002912:exon14:c.G4290A:p.V1430V,REV3L:NM_001286432:exon15:c.G4056A:p.V1352V,REV3L:NM_001286431:exon16:c.G4056A:p.V1352V 0.35 0.046 0.43 0.42 0.5 0.5 0.4703 0.1065 0.4032 0.4256 0.5039 0.5329 0.5099 0.5012 0.39 0.13 0.53 0.28 0.55 rs455732 COSM4406879;COSM4406880 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4737 0.0979 0.4148 0.4178 0.4287 0.5029 0.5409 0.4934 0.5004 0.3983 0.1064 0.4246 0.4702 0.4310 0.4971 0.5351 0.4582 het 2713.44 250 6 111695268 . C T 2713.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.849;DP=250;DS;Dels=0.00;FS=0.977;HRun=0;HaplotypeScore=8.5079;MQ=59.24;MQ0=0;MQRankSum=0.533;QD=10.85;ReadPosRankSum=-1.007;VQSLOD=4.4695;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:2743,0,3689 6 111695887 111695887 G A exonic REV3L nonsynonymous SNV REV3L:NM_002912:exon14:c.C3671T:p.T1224I,REV3L:NM_001286432:exon15:c.C3437T:p.T1146I,REV3L:NM_001286431:exon16:c.C3437T:p.T1146I 0.59 0.37 0.74 0.45 0.79 0.7 0.7165 0.4341 0.6659 0.4524 0.7080 0.8032 0.7550 0.7136 0.69 0.44 0.81 0.43 0.73 rs462779 COSM4409266 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.872 0.088 N 1 0.090 P -1.355 0.007 N 5.02 0.014 T 0.82 0.018 N 0.022 0.008 -0.991 0.323 T 0.001 0.003 T . . . 0.396 0.132 6.577 0.102 0.001 0.001 0.008 N c -1.237 -1.128 0.580 0.216 0.651 0.465 0 1.45 0.216 0.438 0.211 -0.191 0.103 0.000 0.063 0.417 0.257 10.545 0.441 . ENSG00000230177.1|ENSG00000009413.11 Adipose_Subcutaneous|Brain_Cerebellum 0.7191 0.4200 0.6771 0.7849 0.4581 0.7063 0.8085 0.7616 0.7166 0.6672 0.4399 0.6818 0.7667 0.4652 0.6987 0.8075 0.7172 het 1309.02 119 6 111695887 . G A 1309.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.047;DP=119;Dels=0.00;FS=0.682;HRun=0;HaplotypeScore=0.9332;MQ=58.69;MQ0=0;MQRankSum=1.495;QD=11.00;ReadPosRankSum=-1.351;VQSLOD=5.9160;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,55:119:99:1339,0,1805 6 111696257 111696257 G A exonic REV3L synonymous SNV REV3L:NM_002912:exon14:c.C3301T:p.L1101L,REV3L:NM_001286432:exon15:c.C3067T:p.L1023L,REV3L:NM_001286431:exon16:c.C3067T:p.L1023L 0.59 0.37 0.74 0.45 0.79 0.7 0.7161 0.4337 0.6664 0.4528 0.7082 0.8032 0.7555 0.7133 0.69 0.44 0.81 0.43 0.75 rs461646 COSM4003650 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7190 0.4201 0.6774 0.7848 0.4584 0.7053 0.8084 0.7620 0.7163 0.6671 0.4403 0.6859 0.7682 0.4633 0.6988 0.8071 0.7157 het 1567.86 115 6 111696257 . G A 1567.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.916;DP=115;Dels=0.00;FS=4.595;HRun=1;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=0.777;QD=13.63;ReadPosRankSum=0.048;VQSLOD=5.4673;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,62:115:99:1598,0,1431 6 111696852 111696852 T C exonic REV3L synonymous SNV REV3L:NM_002912:exon14:c.A2706G:p.G902G,REV3L:NM_001286432:exon15:c.A2472G:p.G824G,REV3L:NM_001286431:exon16:c.A2472G:p.G824G 0.35 0.046 0.43 0.42 0.5 0.5 0.4710 0.1075 0.4037 0.4263 0.5041 0.5331 0.5110 0.5014 0.39 0.13 0.53 0.28 0.54 rs458486 COSM4003652;COSM4003651 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4738 0.0979 0.4150 0.4179 0.4286 0.5031 0.5409 0.4938 0.5005 0.3978 0.1059 0.4221 0.4702 0.4268 0.4974 0.5350 0.4561 het 828.92 90 6 111696852 . T C 828.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.935;DP=90;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.2790;MQ=58.68;MQ0=0;MQRankSum=2.135;QD=9.21;ReadPosRankSum=0.561;VQSLOD=5.3225;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,33:90:99:859,0,1420 6 111901453 111901453 G T exonic TRAF3IP2 nonsynonymous SNV TRAF3IP2:NM_001164281:exon3:c.C969A:p.H323Q,TRAF3IP2:NM_147686:exon3:c.C969A:p.H323Q,TRAF3IP2:NM_147200:exon4:c.C996A:p.H332Q 0.93 1. 0.9 1. 0.78 0.96 0.8536 0.9628 0.9127 0.9994 0.8431 0.7873 0.8433 0.9397 0.84 0.96 0.78 0.94 0.45 rs1043730 . . Benign not_specified RCV000454545.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.039 0.243 N 1.000 0.588 P -2.485 0.001 N 1.66 0.275 T 0.65 0.026 N 0.037 0.036 -0.946 0.417 T 0.004 0.012 T . . . 1.084 0.198 11.13 0.820 0.135 0.098 0.153 N c -1.013 -0.696 1.000 0.747 0.706 0.609 0 3.55 0.396 0.260 0.181 -0.316 0.077 0.999 0.424 0.862 0.360 3.457 0.070 . ENSG00000255389.1|ENSG00000056972.14|ENSG00000009413.11|ENSG00000272356.1|ENSG00000255389.1|ENSG00000173214.5 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Artery_Tibial|Muscle_Skeletal|Thyroid 0.8513 0.9666 0.9018 0.7828 0.9998 0.8418 0.7833 0.8263 0.9348 0.8574 0.9612 0.8819 0.8179 0.9988 0.8536 0.7821 0.8561 hom 1586.15 47 6 111901453 . G T 1586.15 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9973;MQ=60.00;MQ0=0;QD=33.75;VQSLOD=9.4201;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1619,123,0 6 112457390 112457390 C T exonic LAMA4 nonsynonymous SNV LAMA4:NM_001105206:exon25:c.G3349A:p.G1117S,LAMA4:NM_001105207:exon25:c.G3328A:p.G1110S,LAMA4:NM_002290:exon25:c.G3328A:p.G1110S 0.84 0.88 0.83 0.87 0.71 0.89 0.7691 0.8662 0.8828 0.8558 0.7327 0.7033 0.7848 0.8631 0.75 0.86 0.7 0.8 0.7 rs2032567 COSM4407111 1(liver) Benign not_specified RCV000037364.6 MedGen CN169374 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.052 0.229 N 0.999 0.218 P -0.255 0.038 N -1.16 0.781 T 1.43 0.008 N 0.077 0.068 -1.082 0.070 T 0.095 0.358 T . . . 2.280 0.335 18.04 0.189 0.006 0.113 0.164 N c -0.636 -0.397 1.000 0.517 0.672 0.522 0 5.93 0.959 3.503 0.529 0.154 0.240 1.000 0.715 0.980 0.490 12.152 0.532 Concanavalin A-like lectin/glucanase domain|Laminin G domain ENSG00000112761.14 Skin_Sun_Exposed_Lower_leg 0.7741 0.8688 0.8730 0.7642 0.8540 0.7449 0.7023 0.7502 0.8626 0.7744 0.8652 0.8723 0.7781 0.8668 0.7198 0.7204 0.7469 hom 2611.71 81 6 112457390 . C T 2611.71 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=58.71;MQ0=0;QD=32.24;VQSLOD=9.0176;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2645,205,0 6 112480041 112480041 A G exonic LAMA4 synonymous SNV LAMA4:NM_001105206:exon14:c.T1710C:p.S570S,LAMA4:NM_001105207:exon14:c.T1689C:p.S563S,LAMA4:NM_002290:exon14:c.T1689C:p.S563S 0.091 0.028 0.12 0.13 0.1 0.1 0.1044 0.0422 0.1416 0.0991 0.1841 0.0987 0.1236 0.1104 0.073 0.044 0.088 0.022 0.049 rs3752577 COSM4407998 1(haematopoietic_and_lymphoid_tissue);1(liver) Benign not_specified RCV000037339.5 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1068 0.0399 0.1334 0.0732 0.0977 0.1849 0.0964 0.1024 0.1088 0.1078 0.0395 0.1079 0.0629 0.0896 0.1808 0.1301 0.1605 het 934.33 73 6 112480041 . A G 934.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.194;DP=73;Dels=0.00;FS=2.665;HRun=0;HaplotypeScore=3.7569;MQ=59.37;MQ0=0;MQRankSum=-0.535;QD=12.80;ReadPosRankSum=-1.484;VQSLOD=5.6191;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,37:73:99:964,0,909 6 112493872 112493872 A G exonic LAMA4 nonsynonymous SNV LAMA4:NM_001105206:exon12:c.T1492C:p.Y498H,LAMA4:NM_001105207:exon12:c.T1471C:p.Y491H,LAMA4:NM_002290:exon12:c.T1471C:p.Y491H 0.76 0.78 0.72 0.81 0.65 0.81 0.6649 0.7509 0.7140 0.8228 0.5664 0.6004 0.6641 0.7941 0.65 0.74 0.6 0.73 0.63 rs1050348 COSM3761440 1(thyroid);1(large_intestine) Benign not_specified RCV000037336.6 MedGen CN169374 . . . . . . 0.665 0.056 T 0.0 0.026 B 0.0 0.013 B 0.487 0.121 N 1 0.090 P -1.24 0.008 N 2.95 0.097 T 1.23 0.010 N 0.035 0.015 -0.899 0.481 T 0.004 0.011 T . . . -0.041 0.090 2.212 0.117 0.002 0.036 0.087 N c -0.889 -0.715 1.000 0.500 0.646 0.442 0 4.63 0.570 1.851 0.387 0.138 0.222 0.973 0.343 0.782 0.331 4.881 0.129 Laminin alpha\x2c domain I ENSG00000112769.14 Skin_Sun_Exposed_Lower_leg 0.6640 0.7565 0.7151 0.6750 0.8216 0.5594 0.5971 0.6585 0.7896 0.6564 0.7485 0.7351 0.6656 0.8418 0.5572 0.6020 0.6472 hom 3662.59 116 6 112493872 . A G 3662.59 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;QD=31.57;VQSLOD=9.1850;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3662,274,0 6 112508769 112508769 T G exonic LAMA4 synonymous SNV LAMA4:NM_001105206:exon8:c.A849C:p.A283A,LAMA4:NM_001105207:exon8:c.A828C:p.A276A,LAMA4:NM_002290:exon8:c.A828C:p.A276A 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1.0000 1 1 . . . . 0.98 rs9387061 COSM4594639 1(upper_aerodigestive_tract) Benign not_specified RCV000154630.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2089.05 67 6 112508769 . T G 2089.05 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.46;MQ0=0;QD=31.18;VQSLOD=8.1811;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2122,166,0 6 112508770 112508770 G T exonic LAMA4 nonsynonymous SNV LAMA4:NM_001105206:exon8:c.C848A:p.A283E,LAMA4:NM_001105207:exon8:c.C827A:p.A276E,LAMA4:NM_002290:exon8:c.C827A:p.A276E 1. 1. 1. 1. 1. 1. 1.0000 1 1 0.9999 1 1 1 1 . . . . 0.97 rs9400522 COSM4591007 23(upper_aerodigestive_tract) Benign not_specified RCV000172753.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 hom 2033.35 67 6 112508770 . G T 2033.35 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.46;MQ0=0;QD=30.35;VQSLOD=8.3861;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2066,168,0 6 112512905 112512905 G A exonic LAMA4 synonymous SNV LAMA4:NM_001105206:exon6:c.C651T:p.T217T,LAMA4:NM_001105207:exon6:c.C651T:p.T217T,LAMA4:NM_002290:exon6:c.C651T:p.T217T 0.32 0.61 0.18 0.26 0.14 0.26 0.1982 0.5467 0.1334 0.2833 0.1913 0.1338 0.1932 0.2423 0.26 0.52 0.12 0.34 0.13 rs2072021 COSM4407029 1(haematopoietic_and_lymphoid_tissue);1(liver);1(oesophagus);1(biliary_tract) Benign not_specified RCV000037397.5 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1884 0.5570 0.1324 0.1588 0.2780 0.1899 0.1299 0.1634 0.2408 0.2747 0.5431 0.1396 0.1424 0.2749 0.1920 0.1536 0.1933 het 1448.59 115 6 112512905 . G A 1448.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.795;DP=115;Dels=0.00;FS=5.854;HRun=0;HaplotypeScore=2.7956;MQ=59.27;MQ0=0;MQRankSum=0.864;QD=12.60;ReadPosRankSum=0.295;VQSLOD=5.1949;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,53:115:99:1479,0,1661 6 112671611 112671611 G A exonic RFPL4B nonsynonymous SNV RFPL4B:NM_001013734:exon3:c.G701A:p.G234D 0.16 0.21 0.13 0.037 0.23 0.18 0.1898 0.2237 0.1193 0.0351 0.1322 0.2192 0.1767 0.2069 0.22 0.22 0.22 0.21 0.28 rs11153361 COSM3723349 2(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.657 0.047 T 0.0 0.026 B 0.001 0.040 B 0.000 0.002 N 1 0.090 P -0.115 0.046 N -0.2 0.661 T 0.29 0.042 N 0.085 0.080 -1.045 0.157 T 0.030 0.127 T . . . -1.965 0.008 0.001 0.171 0.005 0.001 0.009 N c -2.044 -2.150 1.000 0.747 0.497 0.185 0 -7.84 0.011 -4.689 0.002 -3.340 0.001 0.000 0.063 0.000 0.016 2.054 0.033 B30.2/SPRY domain|Butyrophylin-like|Concanavalin A-like lectin/glucanase domain|SPRY domain ENSG00000217770.1 Testis 0.1850 0.2201 0.1175 0.3166 0.0374 0.1375 0.2157 0.2210 0.1999 0.1953 0.2248 0.1241 0.3046 0.0420 0.1472 0.2074 0.2016 het 1985.96 115 6 112671611 . G A 1985.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.924;DP=115;Dels=0.00;FS=15.160;HRun=0;HaplotypeScore=1.8910;MQ=59.60;MQ0=0;MQRankSum=-0.342;QD=17.27;ReadPosRankSum=-1.638;VQSLOD=2.9182;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,74:115:99:2016,0,1155 6 114378970 114378970 C T exonic HS3ST5 synonymous SNV HS3ST5:NM_153612:exon2:c.G492A:p.E164E 0.3 0.16 0.43 0.35 0.3 0.35 0.2995 0.1785 0.4832 0.3597 0.2204 0.2815 0.2963 0.3191 0.25 0.19 0.28 0.27 0.17 rs2282237 COSM150163 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3082 0.1780 0.4827 0.3086 0.3602 0.2212 0.2821 0.2991 0.3124 0.2424 0.1733 0.4246 0.2980 0.3607 0.2092 0.2651 0.2587 het 2092.33 193 6 114378970 . C T 2092.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.330;DP=193;DS;Dels=0.00;FS=4.264;HRun=1;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=0.812;QD=10.84;ReadPosRankSum=-0.249;VQSLOD=5.9147;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,82:193:99:2122,0,3083 6 116325142 116325142 C T exonic FRK nonsynonymous SNV FRK:NM_002031:exon2:c.G364A:p.G122R 0.46 0.18 0.44 0.79 0.42 0.55 0.4556 0.2186 0.4619 0.7978 0.4166 0.4268 0.4789 0.5505 0.35 0.22 0.41 0.38 0.38 rs3756772 COSM3736399 1(skin) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.028 0.257 N 0.999 0.214 P -0.28 0.037 N . . . . . . 0.038 0.018 -1.012 0.263 T 0.011 0.042 T . . . 2.906 0.410 21.9 0.971 0.318 0.198 0.206 N c -0.528 -0.297 1.000 0.747 0.487 0.133 0 4.8 0.610 2.040 0.406 0.139 0.223 1.000 0.715 0.933 0.406 7.436 0.262 SH2 domain ENSG00000178425.9|ENSG00000187189.9|ENSG00000178425.9|ENSG00000111816.6|ENSG00000111816.6|ENSG00000187189.9|ENSG00000178425.9|ENSG00000111816.6|ENSG00000178425.9 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial 0.4554 0.2118 0.4602 0.3520 0.8002 0.4230 0.4240 0.4345 0.5520 0.3934 0.2148 0.4688 0.3543 0.8236 0.4329 0.4334 0.4713 het 694.95 60 6 116325142 . C T 694.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.354;DP=60;Dels=0.00;FS=11.933;HRun=0;HaplotypeScore=2.9313;MQ=59.23;MQ0=0;MQRankSum=0.407;QD=11.58;ReadPosRankSum=0.776;VQSLOD=4.5590;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,30:60:99:725,0,758 6 116446576 116446576 A G exonic COL10A1 nonsynonymous SNV COL10A1:NM_000493:exon2:c.T80C:p.M27T 0.45 0.74 0.33 0.26 0.4 0.38 0.3805 0.7134 0.2209 0.2175 0.3692 0.3849 0.3557 0.3557 0.5 0.7 0.39 0.49 0.45 rs1064583 COSM4003654 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign|Benign not_specified|Metaphyseal_chondrodysplasia RCV000254143.1|RCV000407755.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0005871:CN005173 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.055 0.226 N 0.011 0.408 P -0.695 0.019 N -2.53 0.894 D 0.34 0.038 N 0.03 0.425 -0.965 0.382 T 0.133 0.447 T . . . -0.665 0.047 0.087 0.467 0.037 0.060 0.118 N c -0.734 -0.464 0.049 0.148 0.554 0.283 0 6.06 0.983 2.722 0.467 0.138 0.222 0.996 0.391 0.024 0.140 8.606 0.328 . ENSG00000178425.9|ENSG00000187189.9|ENSG00000187189.9|ENSG00000178425.9 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal 0.3693 0.7258 0.2301 0.4361 0.2119 0.3638 0.3856 0.3737 0.3548 0.4554 0.7100 0.2661 0.4205 0.1849 0.3636 0.3768 0.3384 het 2420.90 205 6 116446576 . A G 2420.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.299;DP=205;Dels=0.00;FS=1.756;HRun=0;HaplotypeScore=10.9546;MQ=58.19;MQ0=0;MQRankSum=1.120;QD=11.81;ReadPosRankSum=1.067;VQSLOD=3.7860;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,103:205:99:2451,0,2555 6 116574452 116574452 C T exonic TSPYL4 nonsynonymous SNV TSPYL4:NM_021648:exon1:c.G720A:p.M240I 0.0002 . 0.0014 . . . 0.0008 0.0002 0.0007 0 0 0.0013 0 0 0.0006 0.0003 0.0008 . . rs201915650 . . . . . . . . . . . . . 0.008 0.586 D 0.036 0.194 B 0.105 0.295 B . . . 0.867 0.282 N -0.345 0.033 N 1.85 0.245 T -0.53 0.164 N 0.573 0.604 -0.977 0.358 T 0.011 0.040 T 0.008 0.202 T 5.859 0.803 27.3 0.992 0.537 0.280 0.232 N c -0.381 -0.158 1.000 0.747 0.628 0.401 0 3.98 0.452 0.468 0.216 0.935 0.490 1.000 0.715 0.998 0.697 9.994 0.409 . . . 0.0007 7.402e-05 0.0005 0.0001 0 0.0003 0.0013 0.0004 3.449e-05 0.0006 0 0.0024 0 0 0 0.0011 0 het 161.33 29 6 116574452 . C T 161.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.245;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7519;MQ=58.39;MQ0=0;MQRankSum=1.098;QD=5.56;ReadPosRankSum=1.147;VQSLOD=2.7293;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,8:29:99:191,0,619 6 116574455 116574455 G A exonic TSPYL4 synonymous SNV TSPYL4:NM_021648:exon1:c.C717T:p.H239H 0.39 0.092 0.38 0.64 0.36 0.56 0.4545 0.1497 0.4922 0.6888 0.4384 0.4272 0.4765 0.5588 0.28 0.11 0.35 0.33 . rs2232472 COSM3761443 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4039 0.1076 0.4178 0.3188 0.6786 0.3965 0.3682 0.3807 0.5357 0.3275 0.1144 0.4246 0.3278 0.7209 0.4101 0.3789 0.4109 het 191.30 27 6 116574455 . G A 191.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.509;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7519;MQ=58.27;MQ0=0;MQRankSum=0.808;QD=7.09;ReadPosRankSum=-0.593;VQSLOD=5.0428;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,9:27:99:221,0,449 6 116575083 116575083 C A exonic TSPYL4 nonsynonymous SNV TSPYL4:NM_021648:exon1:c.G89T:p.R30L 0.88 0.96 0.79 1. 0.66 0.95 0.7653 0.9205 0.8473 0.9974 0.7603 0.6602 0.7735 0.9165 0.73 0.91 0.64 0.87 . rs2232470 COSM3761444 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.21 0.008 N 1.81 0.252 T -0.32 0.123 N 0.018 0.003 -0.961 0.390 T 0.005 0.017 T . . . 0.342 0.127 6.094 0.881 0.172 0.002 0.010 N c -1.632 -1.623 1.000 0.747 0.442 0.072 0 -4.12 0.036 -0.841 0.044 -0.189 0.103 0.000 0.063 0.000 0.016 2.291 0.039 . ENSG00000178425.9|ENSG00000187189.9|ENSG00000187189.9|ENSG00000111817.12 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Testis 0.7623 0.9241 0.8347 0.6745 0.9976 0.7675 0.6482 0.7122 0.9159 0.7715 0.9220 0.7990 0.7185 0.9963 0.7655 0.6610 0.7622 het 455.33 34 6 116575083 . C A 455.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.294;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.32;MQ0=0;MQRankSum=0.776;QD=13.39;ReadPosRankSum=0.535;VQSLOD=6.7547;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,18:34:99:485,0,384 6 116600465 116600465 - CAC exonic TSPYL1 nonframeshift insertion TSPYL1:NM_003309:exon1:c.528_529insGTG:p.V176_K177insV 0.87 0.96 0.78 0.98 0.65 0.94 0.7628 0.9205 0.8466 0.9975 0.7560 0.6559 0.7671 0.9158 0.73 0.91 0.64 0.35 . rs78371471 COSM112143 1(ovary);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7694 0.9229 0.7967 0.7152 0.9957 0.7616 0.6577 0.7572 het 3906.88 146 6 116600465 . T TCAC 3906.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.686;DP=146;FS=0.000;HRun=0;HaplotypeScore=473.4155;MQ=57.47;MQ0=0;MQRankSum=-2.195;QD=26.58;ReadPosRankSum=0.523;set=variant2 GT:AD:DP:GQ:PL 0/1:80,65:146:99:3907,0,2938 6 116600774 116600774 C G exonic TSPYL1 nonsynonymous SNV TSPYL1:NM_003309:exon1:c.G220C:p.A74P 0.46 0.35 0.38 0.64 0.31 0.65 0.3822 0.3455 0.4116 0.6698 0.2763 0.2981 0.3715 0.6018 0.29 0.32 0.28 0.45 0.27 rs3749895 COSM450374 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -1.7 0.004 N 2.05 0.207 T 1.98 0.004 N 0.049 0.030 -0.915 0.462 T 0.003 0.011 T . . . -0.941 0.034 0.021 0.389 0.026 0.003 0.016 N c -1.527 -1.443 1.000 0.747 0.442 0.072 0 1.42 0.214 -0.134 0.103 -0.414 0.060 0.000 0.063 0.000 0.016 4.915 0.131 . ENSG00000187189.9|ENSG00000189241.6|ENSG00000237021.2|ENSG00000187189.9|ENSG00000189241.6|ENSG00000187189.9|ENSG00000233558.1 Artery_Aorta|Artery_Aorta|Artery_Aorta|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Thyroid 0.3801 0.3406 0.4120 0.2984 0.6693 0.2774 0.2912 0.3349 0.6009 0.3226 0.3319 0.4159 0.2980 0.6969 0.2804 0.2824 0.3187 het 816.07 81 6 116600774 . C G 816.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.250;DP=81;Dels=0.00;FS=12.451;HRun=2;HaplotypeScore=3.6336;MQ=58.67;MQ0=0;MQRankSum=0.320;QD=10.07;ReadPosRankSum=-1.358;VQSLOD=3.0647;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,35:81:99:846,0,1354 6 116600810 116600810 G A exonic TSPYL1 nonsynonymous SNV TSPYL1:NM_003309:exon1:c.C184T:p.P62S 0.35 0.064 0.35 0.63 0.26 0.54 0.3238 0.0834 0.3875 0.6631 0.2408 0.2652 0.3213 0.4963 0.19 0.079 0.25 0.29 0.27 rs3828743 COSM4160139 1(thyroid) . . . . . . . . . . . 0.034 0.440 D 0.02 0.170 B 0.004 0.093 B . . . 1.000 0.090 P 2.085 0.579 M 1.51 0.309 T -2.28 0.508 N 0.14 0.163 -0.998 0.306 T 0.020 0.083 T . . . -0.143 0.081 1.430 0.976 0.344 0.058 0.116 N c -1.009 -1.103 1.000 0.747 0.442 0.072 0 -1.11 0.093 0.266 0.182 -0.019 0.130 0.001 0.137 0.000 0.016 4.225 0.100 . ENSG00000187189.9|ENSG00000111816.6|ENSG00000187189.9|ENSG00000178425.9|ENSG00000233558.1 Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Muscle_Skeletal|Thyroid 0.3249 0.0723 0.3847 0.2370 0.6625 0.2430 0.2612 0.2927 0.4950 0.2288 0.0748 0.3837 0.2649 0.6917 0.2484 0.2523 0.2648 het 1158.83 90 6 116600810 . G A 1158.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=90;Dels=0.00;FS=0.830;HRun=1;HaplotypeScore=1.8662;MQ=59.74;MQ0=0;MQRankSum=-0.574;QD=12.88;ReadPosRankSum=1.583;VQSLOD=5.4906;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,43:90:99:1189,0,1204 6 116756773 116756773 T C exonic DSE nonsynonymous SNV DSE:NM_001080976:exon6:c.T1142C:p.V381A,DSE:NM_001322939:exon6:c.T1199C:p.V400A,DSE:NM_001322941:exon6:c.T581C:p.V194A,DSE:NM_013352:exon6:c.T1142C:p.V381A,DSE:NM_001322937:exon7:c.T1142C:p.V381A,DSE:NM_001322938:exon7:c.T1142C:p.V381A,DSE:NM_001322940:exon7:c.T581C:p.V194A 0.02 0.003 0.019 . 0.076 0.0082 0.0552 0.0087 0.0218 0.0003 0.1597 0.0724 0.0770 0.0180 0.049 0.013 0.067 0.011 0.057 rs41313440 . . Benign not_specified RCV000426390.1 MedGen CN169374 . . . . . . 0.52 0.072 T 0.015 0.158 B 0.025 0.193 B 0.002 0.380 N 1 0.090 N 0.205 0.094 N 2.33 0.165 T -0.3 0.119 N 0.084 0.078 -0.925 0.449 T 0.007 0.022 T . . . -0.956 0.034 0.020 0.849 0.151 0.466 0.276 N c -0.493 -0.266 0.794 0.240 0.707 0.730 0 4.82 0.615 1.767 0.379 0.964 0.580 0.138 0.233 0.999 0.750 9.405 0.374 . . . 0.0567 0.0081 0.0223 0.0167 0.0002 0.1604 0.0737 0.0525 0.0148 0.0695 0.0122 0.0274 0.0132 0 0.1541 0.0910 0.1176 het 1015.47 91 6 116756773 . T C 1015.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.298;DP=91;Dels=0.00;FS=1.725;HRun=0;HaplotypeScore=3.5217;MQ=58.24;MQ0=0;MQRankSum=-0.443;QD=11.16;ReadPosRankSum=0.240;VQSLOD=4.7316;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,40:91:99:1045,0,1181 6 116757557 116757557 T C exonic DSE synonymous SNV DSE:NM_001080976:exon6:c.T1926C:p.N642N,DSE:NM_001322939:exon6:c.T1983C:p.N661N,DSE:NM_001322941:exon6:c.T1365C:p.N455N,DSE:NM_013352:exon6:c.T1926C:p.N642N,DSE:NM_001322937:exon7:c.T1926C:p.N642N,DSE:NM_001322938:exon7:c.T1926C:p.N642N,DSE:NM_001322940:exon7:c.T1365C:p.N455N 0.98 1. 0.97 1. 0.92 0.99 0.9529 0.9883 0.9694 0.9990 0.9546 0.9321 0.9659 0.9780 0.95 0.98 0.93 0.98 0.98 rs560644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9538 0.9889 0.9674 0.9681 0.9991 0.9588 0.9294 0.9426 0.9780 0.9530 0.9877 0.9665 0.9669 0.9975 0.9516 0.9277 0.9479 hom 5976.31 190 6 116757557 . T C 5976.31 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9646;MQ=59.32;MQ0=0;QD=31.45;VQSLOD=9.4163;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:190:99:5951,493,0 6 116950734 116950734 G A exonic RSPH4A nonsynonymous SNV RSPH4A:NM_001010892:exon4:c.G1667A:p.R556H 0.2 0.11 0.21 0.29 0.22 0.24 0.2135 0.1223 0.2183 0.3064 0.2623 0.2079 0.2302 0.2209 0.17 0.12 0.2 0.15 0.23 rs6927567 COSM3761449 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000151746.4|RCV000392890.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.0 0.912 D 0.798 0.429 P 0.229 0.365 B 0.000 0.629 N 0.000 0.810 P 3.92 0.963 H 1.16 0.381 T -4.51 0.782 D 0.273 0.551 -0.839 0.527 T 0.085 0.331 T . . . 6.595 0.906 31 0.999 0.992 0.915 0.534 D c 0.473 0.473 1.000 0.747 0.428 0.059 0 5.2 0.716 5.843 0.689 1.044 0.665 1.000 0.715 1.000 0.888 13.128 0.586 . ENSG00000237021.2|ENSG00000196911.5|ENSG00000111834.8|ENSG00000196911.5 Adipose_Subcutaneous|Nerve_Tibial|Pituitary|Thyroid 0.2144 0.1200 0.2174 0.2435 0.3004 0.2573 0.1996 0.2270 0.2192 0.1913 0.1169 0.2081 0.2715 0.2966 0.2554 0.2055 0.1963 het 897.51 98 6 116950734 . G A 897.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.197;DP=98;Dels=0.00;FS=4.104;HRun=0;HaplotypeScore=1.6988;MQ=58.76;MQ0=0;MQRankSum=1.608;QD=9.16;ReadPosRankSum=-1.051;VQSLOD=5.4500;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,37:98:99:928,0,1531 6 116950833 116950833 T C exonic RSPH4A nonsynonymous SNV RSPH4A:NM_001010892:exon4:c.T1766C:p.L589P 0.71 0.97 0.64 0.49 0.6 0.75 0.6470 0.9213 0.6624 0.5096 0.6140 0.5982 0.6170 0.7470 0.7 0.91 0.59 0.73 0.62 rs784133 COSM3761450 1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000151747.4|RCV000369719.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 0.191 0.810 P -3.2 0.000 N 2.52 0.142 T 7.94 0.000 N 0.05 0.054 -0.947 0.414 T 0.001 0.005 T . . . 0.540 0.146 7.732 0.750 0.106 0.072 0.131 N c -1.044 -0.694 1.000 0.747 0.428 0.059 0 4.96 0.650 3.410 0.522 0.066 0.173 1.000 0.715 0.990 0.544 10.807 0.455 . ENSG00000188820.8|ENSG00000188820.8|ENSG00000188820.8|ENSG00000111817.12 Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Muscle_Skeletal|Whole_Blood 0.6378 0.9274 0.6567 0.5684 0.5074 0.6155 0.5932 0.6226 0.7450 0.6898 0.9186 0.6199 0.6 0.5155 0.6309 0.5986 0.6327 het 2638.30 209 6 116950833 . T C 2638.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.184;DP=209;Dels=0.00;FS=6.754;HRun=1;HaplotypeScore=8.0288;MQ=58.64;MQ0=0;MQRankSum=0.710;QD=12.56;ReadPosRankSum=-0.891;VQSLOD=4.3295;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,102:209:99:2668,0,2729 6 116973182 116973182 T C exonic ZUFSP nonsynonymous SNV ZUFSP:NM_145062:exon6:c.A1135G:p.N379D 0.41 0.51 0.49 0.31 0.29 0.42 0.3535 0.4996 0.5383 0.3261 0.3324 0.2912 0.3429 0.4076 0.35 0.47 0.28 0.47 0.34 rs4946188 COSM450386 1(haematopoietic_and_lymphoid_tissue);2(oesophagus);1(prostate);1(large_intestine) . . . . . . . . . . . 0.709 0.040 T 0.0 0.026 B 0.002 0.063 B 0.089 0.204 N 1 0.233 P 0.06 0.082 N 1.0 0.414 T -1.93 0.448 N 0.002 0.000 -0.989 0.328 T 0.018 0.075 T . . . 0.381 0.131 6.449 0.534 0.048 0.031 0.079 N c -0.945 -0.789 0.606 0.218 0.732 0.924 0 1.52 0.221 0.734 0.256 -0.340 0.072 0.779 0.292 0.979 0.486 5.323 0.151 . ENSG00000237021.2|ENSG00000111832.8|ENSG00000183807.6 Adipose_Subcutaneous|Heart_Left_Ventricle|Thyroid 0.3545 0.4997 0.5201 0.3697 0.3210 0.3305 0.2793 0.3474 0.4068 0.3530 0.4921 0.4593 0.3874 0.3158 0.3292 0.2790 0.2924 het 2077.35 171 6 116973182 . T C 2077.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.862;DP=171;Dels=0.00;FS=1.254;HRun=0;HaplotypeScore=1.9298;MQ=58.32;MQ0=0;MQRankSum=0.178;QD=12.15;ReadPosRankSum=-1.138;VQSLOD=5.7998;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,89:171:99:2107,0,2065 6 117083172 117083172 C T exonic FAM162B nonsynonymous SNV FAM162B:NM_001085480:exon3:c.G358A:p.A120T 0.021 0.013 0.013 0.006 0.024 0.052 0.0210 0.0123 0.0083 0.0030 0.0292 0.0192 0.0167 0.0492 0.018 0.015 0.019 0.033 0.041 rs41306045 . . . . . . . . . . . . . 0.006 0.614 D 0.98 0.574 D 0.563 0.478 P 0.000 0.843 D 0.996 0.432 D 2.585 0.758 M 1.18 0.377 T -2.76 0.585 D 0.128 0.146 -1.019 0.241 T 0.077 0.307 T . . . 6.309 0.871 29.2 0.998 0.899 0.744 0.361 D c 0.229 0.187 1.000 0.747 0.653 0.482 0 3.61 0.403 5.238 0.650 0.935 0.490 0.999 0.424 0.968 0.456 11.726 0.508 . . . 0.0201 0.0130 0.0069 0.0125 0.0030 0.0286 0.0191 0.0168 0.0482 0.0212 0.0127 0.0072 0.0033 0.0031 0.0299 0.0266 0.0316 het 2368.39 215 6 117083172 . C T 2368.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.447;DP=215;Dels=0.00;FS=1.690;HRun=0;HaplotypeScore=3.9497;MQ=58.89;MQ0=0;MQRankSum=0.131;QD=11.02;ReadPosRankSum=-1.953;VQSLOD=4.6905;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:115,100:215:99:2398,0,2860 6 117086378 117086378 C A exonic FAM162B nonsynonymous SNV FAM162B:NM_001085480:exon2:c.G213T:p.Q71H 0.086 0.079 0.12 0.066 0.15 0.028 0.1176 0.0917 0.0850 0.0496 0.0916 0.1573 0.1219 0.0421 0.14 0.094 0.16 0.043 0.13 rs654128 COSM4160144 5(soft_tissue);1(liver);1(thyroid) . . . . . . . . . . . 0.081 0.334 T 0.971 0.552 D 0.75 0.542 P 0.025 0.262 N 1.000 0.191 P 1.89 0.503 L 1.48 0.317 T -1.48 0.362 N 0.109 0.117 -1.046 0.154 T 0.038 0.165 T . . . 2.553 0.368 19.81 0.950 0.255 0.035 0.086 N c -1.046 -1.311 1.000 0.747 0.652 0.477 0 -7.29 0.013 -1.970 0.016 -0.262 0.088 0.004 0.165 0.880 0.369 11.314 0.484 . . . 0.1191 0.0916 0.0904 0.2763 0.0484 0.0927 0.1532 0.1535 0.0425 0.1166 0.0938 0.1340 0.23 0.0519 0.0968 0.1384 0.1151 het 1096.55 131 6 117086378 . C A 1096.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.067;DP=131;Dels=0.00;FS=8.194;HRun=2;HaplotypeScore=2.8397;MQ=59.65;MQ0=0;MQRankSum=-0.383;QD=8.37;ReadPosRankSum=0.646;VQSLOD=4.0716;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,44:131:99:1127,0,2416 6 117113653 117113653 T C exonic GPRC6A synonymous SNV GPRC6A:NM_001286355:exon5:c.A2220G:p.P740P,GPRC6A:NM_001286354:exon6:c.A1908G:p.P636P,GPRC6A:NM_148963:exon6:c.A2433G:p.P811P 0.31 0.15 0.37 0.52 0.31 0.26 0.3163 0.1664 0.3234 0.5435 0.2592 0.3286 0.3337 0.2583 0.28 0.17 0.33 0.22 0.37 rs615199 COSM150165 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3214 0.1658 0.3252 0.4787 0.5467 0.2599 0.3214 0.3325 0.2610 0.2811 0.1678 0.3624 0.43 0.5359 0.2616 0.3151 0.3043 het 1550.42 110 6 117113653 . T C 1550.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.408;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7306;MQ=59.66;MQ0=0;MQRankSum=0.157;QD=14.09;ReadPosRankSum=-0.943;VQSLOD=6.4829;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,63:110:99:1580,0,1325 6 117114025 117114025 G A exonic GPRC6A synonymous SNV GPRC6A:NM_001286355:exon5:c.C1848T:p.A616A,GPRC6A:NM_001286354:exon6:c.C1536T:p.A512A,GPRC6A:NM_148963:exon6:c.C2061T:p.A687A 0.32 0.2 0.37 0.52 0.31 0.26 0.3196 0.2099 0.3255 0.5424 0.2588 0.3280 0.3315 0.2578 0.29 0.21 0.33 0.26 0.38 rs6901250 COSM150166 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);1(large_intestine) . . . . . C-reactive protein . .04 21300955 rs6901250 5E-8 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3245 0.2118 0.3273 0.4782 0.5471 0.2599 0.3212 0.3336 0.2610 0.2942 0.2134 0.3640 0.4338 0.5374 0.2616 0.3155 0.3041 het 865.14 56 6 117114025 . G A 865.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DP=56;Dels=0.00;FS=1.039;HRun=2;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;MQRankSum=0.633;QD=15.45;ReadPosRankSum=-1.099;VQSLOD=5.4493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,33:56:99:895,0,631 6 117114223 117114223 T A exonic GPRC6A synonymous SNV GPRC6A:NM_001286355:exon5:c.A1650T:p.T550T,GPRC6A:NM_001286354:exon6:c.A1338T:p.T446T,GPRC6A:NM_148963:exon6:c.A1863T:p.T621T 0.32 0.2 0.37 0.52 0.31 0.26 0.3196 0.2096 0.3247 0.5427 0.2590 0.3281 0.3322 0.2578 0.29 0.21 0.33 0.26 0.4 rs6924002 COSM4003658 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3247 0.2117 0.3272 0.4783 0.5470 0.2598 0.3215 0.3341 0.2611 0.2943 0.2134 0.3630 0.4333 0.5392 0.2616 0.3154 0.3067 het 855.46 80 6 117114223 . T A 855.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.548;DP=80;Dels=0.00;FS=6.416;HRun=0;HaplotypeScore=1.6609;MQ=58.63;MQ0=0;MQRankSum=0.741;QD=10.69;ReadPosRankSum=-0.079;VQSLOD=5.2479;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,31:80:99:885,0,1297 6 117114403 117114403 G A exonic GPRC6A synonymous SNV GPRC6A:NM_001286355:exon5:c.C1470T:p.H490H,GPRC6A:NM_001286354:exon6:c.C1158T:p.H386H,GPRC6A:NM_148963:exon6:c.C1683T:p.H561H 0.69 0.77 0.78 0.55 0.73 0.61 0.7227 0.7764 0.7251 0.6030 0.6910 0.7470 0.7282 0.6564 0.75 0.77 0.75 0.74 0.69 rs6901971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7148 0.7734 0.7233 0.8799 0.5902 0.6858 0.7360 0.7310 0.6359 0.7249 0.7732 0.7649 0.8841 0.5763 0.6975 0.7163 0.6847 het 315.05 21 6 117114403 . G A 315.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.528;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=58.20;MQ0=0;MQRankSum=-0.669;QD=15.00;ReadPosRankSum=0.387;VQSLOD=6.9097;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,11:21:99:345,0,275 6 117121894 117121894 G A exonic GPRC6A synonymous SNV GPRC6A:NM_001286354:exon4:c.C876T:p.H292H,GPRC6A:NM_148963:exon4:c.C1401T:p.H467H 0.98 0.93 0.99 1. 1. 1. 0.9944 0.9402 0.9976 1 1 0.9996 0.9956 0.9998 0.98 0.94 1. 0.98 1. rs6917467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9382 0.9968 0.9997 1 1 0.9996 0.9965 0.9999 0.9828 0.9403 0.9952 1 1 1 0.9997 0.9980 hom 1960.74 63 6 117121894 . G A 1960.74 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.39;MQ0=0;QD=31.12;VQSLOD=7.9260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1994,159,0 6 117130704 117130704 G A exonic GPRC6A nonsynonymous SNV GPRC6A:NM_001286354:exon2:c.C271T:p.P91S,GPRC6A:NM_001286355:exon2:c.C271T:p.P91S,GPRC6A:NM_148963:exon2:c.C271T:p.P91S 0.69 0.77 0.77 0.55 0.73 0.61 0.7156 0.7709 0.7207 0.5923 0.6873 0.7443 0.7247 0.6366 0.75 0.76 0.75 0.74 0.78 rs2274911 COSM150167 1(stomach);1(large_intestine) . . . . . . . . . . . 0.822 0.111 T 0.0 0.090 B 0.001 0.162 B 0.002 0.383 N 1 0.090 P 1.145 0.292 L -2.44 0.888 D -4.13 0.751 D 0.031 0.021 -0.903 0.477 T 0.285 0.657 T . . . -0.386 0.062 0.418 0.609 0.064 0.031 0.079 N c -0.820 -0.761 0.000 0.029 0.554 0.246 0 -0.33 0.120 0.315 0.191 0.244 0.267 0.046 0.210 0.999 0.750 6.114 0.192 Periplasmic binding protein-like I|Receptor\x2c ligand binding region . . 0.7175 0.7735 0.7241 0.8845 0.5906 0.6892 0.7384 0.7367 0.6413 0.7242 0.7728 0.7644 0.8841 0.5739 0.6975 0.7155 0.6810 het 729.55 76 6 117130704 . G A 729.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.601;DP=76;Dels=0.00;FS=0.914;HRun=0;HaplotypeScore=3.7223;MQ=59.01;MQ0=0;MQRankSum=-0.419;QD=9.60;ReadPosRankSum=-0.073;VQSLOD=6.0561;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,33:76:99:760,0,1104 6 117243260 117243260 T C exonic RFX6 synonymous SNV RFX6:NM_173560:exon13:c.T1383C:p.T461T 0.34 0.29 0.29 0.42 0.22 0.47 0.2527 0.2740 0.3026 0.3749 0.2536 0.1834 0.2605 0.4199 0.21 0.28 0.18 0.3 0.18 rs7764347 COSM3761453 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign not_specified RCV000118179.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2532 0.2761 0.2962 0.1365 0.3755 0.2552 0.1858 0.2179 0.4133 0.2417 0.2740 0.2395 0.1325 0.3747 0.2459 0.2082 0.2621 het 656.75 62 6 117243260 . T C 656.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.607;DP=62;Dels=0.00;FS=8.994;HRun=1;HaplotypeScore=2.9983;MQ=59.02;MQ0=0;MQRankSum=-0.508;QD=10.59;ReadPosRankSum=0.762;VQSLOD=4.6134;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,29:62:99:687,0,807 6 117244374 117244374 T C exonic RFX6 synonymous SNV RFX6:NM_173560:exon14:c.T1542C:p.N514N 0.34 0.29 0.29 0.42 0.23 0.47 0.2552 0.2700 0.2994 0.3761 0.2965 0.1847 0.2676 0.4191 0.21 0.28 0.18 0.3 0.19 rs7770158 COSM3761454 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) Likely benign not_specified RCV000118180.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2570 0.2733 0.2939 0.1366 0.3765 0.2981 0.1865 0.2209 0.4128 0.2522 0.2787 0.2404 0.1325 0.3773 0.2941 0.2150 0.2772 het 1202.93 138 6 117244374 . T C 1202.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.415;DP=138;Dels=0.00;FS=3.131;HRun=0;HaplotypeScore=0.9989;MQ=59.83;MQ0=0;MQRankSum=0.482;QD=8.72;ReadPosRankSum=0.070;VQSLOD=6.2950;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,53:138:99:1233,0,2326 6 117246719 117246719 C T exonic RFX6 synonymous SNV RFX6:NM_173560:exon16:c.C1782T:p.H594H 0.34 0.3 0.29 0.42 0.23 0.47 0.2558 0.2750 0.3002 0.3763 0.2958 0.1849 0.2694 0.4188 0.21 0.28 0.18 0.3 0.18 rs4946206 COSM3761455 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) Likely benign not_specified RCV000118181.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2575 0.2778 0.2945 0.1376 0.3763 0.2980 0.1865 0.2219 0.4125 0.2533 0.2815 0.2422 0.1358 0.3762 0.2940 0.2154 0.2780 het 2056.78 141 6 117246719 . C T 2056.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.005;DP=141;DS;Dels=0.00;FS=3.221;HRun=0;HaplotypeScore=2.6619;MQ=58.32;MQ0=0;MQRankSum=4.210;QD=14.59;ReadPosRankSum=-1.516;VQSLOD=2.3491;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,76:141:99:2087,0,1580 6 117248218 117248218 T C exonic RFX6 synonymous SNV RFX6:NM_173560:exon17:c.T1914C:p.G638G 0.34 0.3 0.29 0.42 0.23 0.47 0.2556 0.2747 0.3003 0.3767 0.2961 0.1847 0.2676 0.4187 0.21 0.28 0.18 0.3 0.19 rs611349 COSM4003665 1(breast);2(haematopoietic_and_lymphoid_tissue);1(prostate) Likely benign not_specified RCV000118182.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2575 0.2780 0.2947 0.1379 0.3765 0.2981 0.1864 0.2215 0.4123 0.2533 0.2825 0.2434 0.1358 0.3762 0.2940 0.2148 0.2781 het 1686.45 168 6 117248218 . T C 1686.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.578;DP=168;Dels=0.00;FS=1.444;HRun=1;HaplotypeScore=3.7820;MQ=59.49;MQ0=0;MQRankSum=0.908;QD=10.04;ReadPosRankSum=0.300;VQSLOD=5.8461;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,66:168:99:1716,0,2465 6 117708971 117708971 C T exonic ROS1 synonymous SNV ROS1:NM_002944:exon13:c.G1986A:p.E662E 0.065 0.029 0.078 0.031 0.092 0.11 0.0658 0.0333 0.0452 0.0203 0.0537 0.0736 0.0839 0.0974 0.062 0.035 0.076 0.11 0.066 rs9489143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0665 0.0322 0.0482 0.1402 0.0219 0.0527 0.0702 0.0932 0.0964 0.0493 0.0298 0.0525 0.1126 0.0222 0.0538 0.0598 0.0682 het 1505.32 136 6 117708971 . C T 1505.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.572;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3085;MQ=57.95;MQ0=0;MQRankSum=-0.307;QD=11.07;ReadPosRankSum=1.010;VQSLOD=5.1542;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,68:136:99:1535,0,1787 6 117725578 117725578 T A exonic ROS1 synonymous SNV ROS1:NM_002944:exon5:c.A303T:p.L101L 0.68 0.92 0.52 0.57 0.5 0.74 0.5497 0.8750 0.4704 0.5776 0.6202 0.4724 0.5407 0.6699 0.6 0.86 0.47 0.69 0.32 rs2243378 COSM3761460;COSM3761461 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5386 0.8794 0.4654 0.4024 0.5853 0.6120 0.4691 0.5176 0.6696 0.6261 0.8677 0.4785 0.3775 0.5655 0.6040 0.5096 0.6373 het 1457.11 96 6 117725578 . T A 1457.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.511;DP=96;Dels=0.00;FS=0.797;HRun=1;HaplotypeScore=5.2570;MQ=59.13;MQ0=0;MQRankSum=-0.842;QD=15.18;ReadPosRankSum=-1.085;VQSLOD=4.6068;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:44,52:96:99:1487,0,1092 6 118886961 118886961 G T exonic CEP85L nonsynonymous SNV CEP85L:NM_001042475:exon3:c.C751A:p.P251T,CEP85L:NM_206921:exon3:c.C751A:p.P251T,CEP85L:NM_001178035:exon4:c.C760A:p.P254T 0.61 0.76 0.5 0.32 0.73 0.64 0.6707 0.7491 0.3625 0.3516 0.7416 0.7466 0.6696 0.6698 0.74 0.75 0.74 0.63 0.76 rs3734382 COSM3927828;COSM150173;COSM3927829 1(stomach);1(liver);3(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.547 0.115 N 1 0.090 P -1.7 0.004 N 3.28 0.199 T 0.76 0.020 N 0.031 0.278 -0.969 0.375 T 0.003 0.009 T . . . -2.458 0.004 0.001 0.568 0.055 0.025 0.068 N c -1.845 -1.755 0.988 0.314 0.490 0.173 0 -4.21 0.035 -0.192 0.095 -0.214 0.099 0.014 0.188 0.951 0.427 7.931 0.289 . ENSG00000217330.1|ENSG00000217330.1|ENSG00000111860.9 Artery_Aorta|Artery_Tibial|Testis 0.6560 0.7519 0.3810 0.7130 0.3523 0.7412 0.7457 0.6755 0.6699 0.7236 0.7440 0.4450 0.6987 0.3826 0.7380 0.7602 0.7327 het 1509.92 162 6 118886961 . G T 1509.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.931;DP=162;Dels=0.00;FS=0.608;HRun=0;HaplotypeScore=1.6634;MQ=59.36;MQ0=0;MQRankSum=-0.321;QD=9.32;ReadPosRankSum=1.627;VQSLOD=6.1486;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,66:162:99:1540,0,2643 6 118887303 118887303 T C exonic CEP85L nonsynonymous SNV CEP85L:NM_001042475:exon3:c.A409G:p.S137G,CEP85L:NM_206921:exon3:c.A409G:p.S137G,CEP85L:NM_001178035:exon4:c.A418G:p.S140G 0.44 0.56 0.29 0.25 0.54 0.46 0.4855 0.5550 0.2159 0.2818 0.5291 0.5419 0.4835 0.4919 0.54 0.55 0.53 0.5 0.44 rs3734381 COSM3761464;COSM150174;COSM3761465 1(stomach);1(liver);2(prostate);2(large_intestine) . . . . . . . . . . . 0.595 0.058 T 0.0 0.067 B 0.0 0.063 B 0.251 0.155 N 1 0.090 P 1.04 0.263 L 1.84 0.247 T -0.76 0.275 N 0.007 0.134 -0.959 0.394 T 0.008 0.028 T . . . -1.764 0.012 0.002 0.625 0.068 0.227 0.216 N c -1.341 -1.337 0.840 0.248 0.646 0.442 0 -2.65 0.057 0.111 0.152 -0.251 0.090 0.000 0.063 0.059 0.170 1.108 0.016 . ENSG00000217330.1|ENSG00000217330.1 Adipose_Subcutaneous|Artery_Tibial 0.4685 0.5565 0.2218 0.4485 0.2812 0.5275 0.5426 0.4781 0.4916 0.5195 0.5512 0.2710 0.4636 0.3075 0.5184 0.5398 0.5102 het 1464.99 150 6 118887303 . T C 1464.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.281;DP=150;Dels=0.00;FS=8.971;HRun=1;HaplotypeScore=3.2798;MQ=59.26;MQ0=0;MQRankSum=1.341;QD=9.77;ReadPosRankSum=-0.706;VQSLOD=4.4466;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,60:150:99:1495,0,2585 6 119245024 119245024 C T exonic MCM9 synonymous SNV MCM9:NM_017696:exon2:c.G573A:p.S191S,MCM9:NM_153255:exon3:c.G573A:p.S191S 0.098 0.097 0.049 0.2 0.038 0.09 0.0590 0.0864 0.0306 0.1997 0.0153 0.0400 0.0640 0.0822 0.056 0.079 0.044 0.065 0.016 rs12197931 COSM3761468;COSM3761467 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0577 0.0872 0.0307 0.0797 0.2011 0.0179 0.0388 0.0546 0.0826 0.0557 0.0825 0.0358 0.0894 0.1881 0.0200 0.0350 0.0499 het 1161 104 6 119245024 . C T 1161 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.128;DP=104;Dels=0.00;FS=0.775;HRun=0;HaplotypeScore=0.9469;MQ=58.54;MQ0=0;MQRankSum=0.062;QD=11.16;ReadPosRankSum=0.710;VQSLOD=6.1584;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,46:104:99:1191,0,1560 6 119510941 119510941 C A exonic MAN1A1 synonymous SNV MAN1A1:NM_005907:exon10:c.G1434T:p.A478A 0.68 0.37 0.61 0.83 0.83 0.83 0.7825 0.4471 0.5847 0.8194 0.8979 0.8406 0.8172 0.8301 0.71 0.47 0.83 0.59 0.7 rs2072890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7815 0.4439 0.5907 0.8601 0.8243 0.8941 0.8340 0.7994 0.8334 0.7342 0.4594 0.5995 0.8477 0.8226 0.8938 0.8441 0.85 hom 3671.85 109 6 119510941 . C A 3671.85 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.60;MQ0=0;QD=33.69;VQSLOD=8.6053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3671,292,0 6 121577370 121577370 T C exonic TBC1D32 nonsynonymous SNV TBC1D32:NM_152730:exon16:c.A1795G:p.I599V 0.26 0.042 0.3 0.11 0.59 0.35 0.4449 0.1164 0.2295 0.1050 0.5687 0.5841 0.4574 0.3523 0.44 0.13 0.58 0.24 0.41 rs7745023 COSM1132045 1(liver);1(prostate) . . . . . . . . . . . 0.824 0.029 T 0.0 0.026 B 0.001 0.063 B 0.470 0.123 N 0.997 0.228 P 0.55 0.145 N 2.37 0.160 T 0.04 0.065 N 0.016 0.004 -0.917 0.460 T 0.005 0.018 T . . . -0.580 0.051 0.139 0.473 0.038 0.469 0.276 N c -1.250 -1.127 0.000 0.012 0.554 0.246 0 -0.469 0.115 0.023 0.133 -0.727 0.036 0.857 0.303 0.817 0.342 5.692 0.170 . . . 0.4421 0.1096 0.2481 0.5250 0.1101 0.5667 0.5873 0.4921 0.3530 0.4166 0.1171 0.2871 0.5132 0.1139 0.5561 0.5900 0.5123 het 579.34 45 6 121577370 . T C 579.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.309;DP=45;Dels=0.00;FS=4.546;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.264;QD=12.87;ReadPosRankSum=-0.494;VQSLOD=6.1954;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,26:45:99:609,0,481 6 121620608 121620608 G T exonic TBC1D32 nonsynonymous SNV TBC1D32:NM_152730:exon10:c.C1124A:p.T375K 0.99 0.96 1. 1. 1. 1. 0.9965 0.9615 0.9994 1 1 0.9999 0.9984 1 0.99 0.97 1. 0.99 0.28 rs9387944 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.199 P -1.95 0.002 N 2.62 0.130 T 2.15 0.003 N 0.055 0.094 -0.926 0.447 T 0.002 0.007 T . . . 2.120 0.316 16.99 0.617 0.066 0.128 0.173 N c -0.937 -0.615 0.012 0.123 0.554 0.246 0 4.83 0.617 2.247 0.426 0.152 0.238 1.000 0.715 1.000 0.888 12.040 0.526 . . . 0.9973 0.9608 0.9985 1 1 1 0.9999 0.9989 0.9999 0.9880 0.9581 0.9976 1 1 1 0.9999 0.9980 hom 921.87 34 6 121620608 . G T 921.87 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9665;MQ=58.90;MQ0=0;QD=27.11;VQSLOD=7.4986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:72.23:955,72,0 6 121629167 121629167 G A exonic TBC1D32 synonymous SNV TBC1D32:NM_152730:exon5:c.C645T:p.C215C 0.32 0.088 0.21 0.59 0.26 0.47 0.2921 0.1194 0.1792 0.5810 0.3051 0.2573 0.3289 0.4567 0.22 0.13 0.26 0.24 0.23 rs9398629 COSM4407365 1(breast);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2899 0.1167 0.1777 0.3248 0.5729 0.2998 0.2547 0.2743 0.4524 0.2379 0.1193 0.1830 0.3344 0.5767 0.3111 0.2525 0.2674 het 1109.86 87 6 121629167 . G A 1109.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.674;DP=87;Dels=0.00;FS=5.441;HRun=0;HaplotypeScore=0.6651;MQ=59.20;MQ0=0;MQRankSum=0.038;QD=12.76;ReadPosRankSum=0.098;VQSLOD=6.0030;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,47:87:99:1140,0,934 6 122773119 122773119 T C exonic SERINC1 nonsynonymous SNV SERINC1:NM_020755:exon6:c.A673G:p.S225G 0.013 0.0015 0.017 . 0.04 0.0092 0.0320 0.0066 0.0146 0 0.0219 0.0492 0.0210 0.0123 0.034 0.0089 0.047 . 0.074 rs17260829 COSM3761470 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.805 0.291 N -2.45 0.001 N 2.78 0.113 T 1.62 0.006 N 0.028 0.009 -0.940 0.427 T 0.002 0.005 T . . . 0.658 0.157 8.546 0.443 0.034 0.677 0.333 D c -0.890 -0.612 0.021 0.133 0.732 0.924 0 0.556 0.164 1.802 0.383 1.061 0.807 1.000 0.715 1.000 0.888 8.713 0.334 . . . 0.0303 0.0062 0.0151 0.0244 6.413e-05 0.0234 0.0490 0.0318 0.0121 0.0290 0.0088 0.0133 0.0533 0 0.0253 0.0449 0.0329 hom 2489.49 88 6 122773119 . T C 2489.49 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=28.29;VQSLOD=8.4990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2522,208,0 6 123122464 123122464 C T exonic SMPDL3A nonsynonymous SNV SMPDL3A:NM_001286138:exon3:c.C88T:p.P30S,SMPDL3A:NM_006714:exon4:c.C481T:p.P161S 0.1 0.051 0.075 0.025 0.14 0.23 0.1349 0.0458 0.0567 0.0163 0.1857 0.1487 0.1667 0.2306 0.11 0.046 0.15 0.12 0.13 rs28385609 COSM3761471 1(liver);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 2.545 0.745 M -1.84 0.842 D -7.45 0.949 D 0.358 0.540 0.187 0.857 D 0.676 0.888 D . . . 5.661 0.772 26.7 0.999 0.968 0.930 0.569 D c 0.608 0.571 1.000 0.747 0.638 0.428 0 5.72 0.893 6.570 0.737 0.932 0.445 1.000 0.715 0.837 0.349 20.241 0.984 Calcineurin-like phosphoesterase domain\x2c apaH type|Metallo-dependent phosphatase-like ENSG00000172594.8 Nerve_Tibial 0.1327 0.0451 0.0605 0.1736 0.0155 0.1769 0.1452 0.1325 0.2306 0.1132 0.0474 0.0740 0.1457 0.0148 0.1684 0.1471 0.1704 het 2877.15 250 6 123122464 . C T 2877.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.956;DP=250;DS;Dels=0.00;FS=5.404;HRun=0;HaplotypeScore=2.7320;MQ=59.27;MQ0=0;MQRankSum=-0.226;QD=11.51;ReadPosRankSum=-0.606;VQSLOD=5.2191;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:131,119:250:99:2907,0,3617 6 123687288 123687288 A C exonic TRDN nonsynonymous SNV TRDN:NM_001251987:exon20:c.T1316G:p.I439S,TRDN:NM_006073:exon20:c.T1313G:p.I438S 0.94 0.96 0.95 0.92 0.92 0.94 0.9240 0.9502 0.9676 0.9158 0.9160 0.9106 0.9297 0.9391 0.93 0.95 0.92 0.96 . rs2873479 . . Benign|Benign\x2cBenign|other not_specified|Catecholaminergic_polymorphic_ventricular_tachycardia\x2cnot_specified|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000215314.3|RCV000285327.1\x2cRCV000221593.2|RCV000227962.3 MedGen|MedGen:Orphanet\x2cMedGen|MedGen:Orphanet CN169374|C1631597:ORPHA3286\x2cCN169374|C1631597:ORPHA3286 . . . . . . 0.415 0.100 T 0.0 0.026 B 0.0 0.013 B 0.044 0.237 N 1.000 0.191 P 0 0.065 N 2.29 0.171 T 0.52 0.029 N 0.027 0.009 -0.929 0.442 T 0.007 0.022 T . . . 0.489 0.141 7.345 0.689 0.085 0.535 0.291 D c -0.879 -0.685 0.000 0.065 0.487 0.133 0 4.68 0.582 2.383 0.438 -0.285 0.084 1.000 0.715 0.177 0.212 7.740 0.278 . . . 0.9256 0.9524 0.9652 0.9084 0.9147 0.9263 0.9089 0.9278 0.9403 0.9286 0.9485 0.9665 0.8974 0.9197 0.9292 0.9157 0.9389 hom 1344.55 48 6 123687288 . A C 1344.55 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=28.01;VQSLOD=8.4292;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1378,102,0 6 123833457 123833457 G C exonic TRDN nonsynonymous SNV TRDN:NM_001251987:exon7:c.C601G:p.L201V,TRDN:NM_001256020:exon7:c.C601G:p.L201V,TRDN:NM_001256021:exon7:c.C601G:p.L201V,TRDN:NM_006073:exon7:c.C601G:p.L201V 0.84 0.8 0.87 0.88 0.86 0.84 0.8259 0.7744 0.8469 0.8578 0.8518 0.8300 0.8088 0.8116 0.84 0.8 0.86 0.94 . rs6902416 COSM5764076;COSM5764075 1(large_intestine) Benign|Benign not_specified|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000220833.3|RCV000317862.1 MedGen|MedGen:Orphanet CN169374|C1631597:ORPHA3286 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.280 0.038 N 1 0.090 P -1.24 0.008 N 1.56 0.800 T -0.12 0.096 N 0.026 0.178 -1.030 0.205 T 0.049 0.209 T . . . -0.289 0.069 0.705 0.215 0.008 0.003 0.015 N c -1.549 -1.493 0.000 0.012 0.638 0.428 0 -3.38 0.045 -1.197 0.031 -1.330 0.013 0.000 0.063 0.776 0.329 1.908 0.031 Aspartyl beta-hydroxylase/Triadin domain . . 0.8443 0.7754 0.8734 0.8079 0.8759 0.8587 0.8470 0.8622 0.8193 0.8511 0.8015 0.8819 0.8079 0.8921 0.8858 0.8672 0.8433 hom 293.43 11 6 123833457 . G C 293.43 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.52;MQ0=0;QD=26.68;VQSLOD=7.1233;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:24.08:326,24,0 6 127476516 127476516 G A exonic RSPO3 synonymous SNV RSPO3:NM_032784:exon4:c.G567A:p.L189L 0.53 0.6 0.52 0.49 0.5 0.52 0.5383 0.6103 0.5073 0.5503 0.4991 0.5350 0.4945 0.5394 0.55 0.59 0.53 0.54 0.52 rs1892172 COSM3761474;COSM1568095 1(breast);1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5335 0.6120 0.5035 0.4896 0.5557 0.5026 0.5383 0.4984 0.5404 0.5589 0.6096 0.5204 0.4735 0.5718 0.5060 0.5450 0.5480 het 827.96 87 6 127476516 . G A 827.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.467;DP=87;Dels=0.00;FS=3.164;HRun=0;HaplotypeScore=0.9332;MQ=59.57;MQ0=0;MQRankSum=0.996;QD=9.52;ReadPosRankSum=1.135;VQSLOD=6.2838;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,34:87:99:858,0,1533 6 127768762 127768762 G A exonic KIAA0408 synonymous SNV KIAA0408:NM_014702:exon5:c.C702T:p.N234N 0.41 0.58 0.41 0.066 0.56 0.4 0.5129 0.5789 0.3877 0.0732 0.5925 0.5931 0.4945 0.4351 0.59 0.58 0.59 0.5 0.53 rs6902288 COSM4407408 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5041 0.5771 0.3963 0.5625 0.0723 0.5929 0.5915 0.5136 0.4323 0.5544 0.5811 0.4318 0.5497 0.0702 0.5857 0.5899 0.5657 hom 1897.86 66 6 127768762 . G A 1897.86 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.74;MQ0=0;QD=28.76;VQSLOD=8.8390;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1931,156,0 6 127771452 127771452 T G exonic KIAA0408 nonsynonymous SNV KIAA0408:NM_014702:exon3:c.A181C:p.S61R 0.42 0.58 0.42 0.071 0.56 0.42 0.5216 0.5824 0.3920 0.0788 0.5940 0.5990 0.5123 0.4647 0.59 0.58 0.6 0.5 0.48 rs3734447 COSM4407200 1(liver) . . . . . . . . . . . 0.58 0.103 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.655 0.004 N 1.03 0.405 T 0.71 0.029 N 0.061 0.463 -0.988 0.332 T 0.006 0.019 T . . . -0.803 0.040 0.042 0.649 0.074 0.002 0.010 N c -1.552 -1.416 0.000 0.050 0.615 0.372 0 0.011 0.133 0.919 0.281 -0.652 0.041 0.034 0.205 0.361 0.248 1.024 0.014 Domain of unknown function DUF4482 ENSG00000093144.14|ENSG00000093144.14 Colon_Transverse|Testis 0.5145 0.5796 0.4060 0.5782 0.0771 0.5946 0.5981 0.5223 0.4670 0.5583 0.5825 0.4354 0.5596 0.0768 0.5857 0.5959 0.5695 hom 1768.54 56 6 127771452 . T G 1768.54 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.17;MQ0=0;QD=31.58;VQSLOD=7.9900;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1802,147,0 6 128040839 128040839 T C exonic THEMIS nonsynonymous SNV THEMIS:NM_001010923:exon5:c.A1888G:p.I630V,THEMIS:NM_001164687:exon5:c.A1783G:p.I595V,THEMIS:NM_001164685:exon6:c.A2005G:p.I669V,THEMIS:NM_001318531:exon6:c.A1597G:p.I533V 0.46 0.7 0.4 0.11 0.68 0.3 0.5627 0.6996 0.3352 0.0984 0.6813 0.6794 0.5509 0.3601 0.69 0.7 0.68 0.52 0.47 rs675531 COSM150180;COSM4777955 1(stomach);1(pancreas);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.032 0.017 N 1 0.090 P -0.695 0.019 N 2.29 0.171 T -0.03 0.075 N 0.011 0.029 -1.018 0.244 T 0.004 0.013 T . . . -2.341 0.004 0.001 0.381 0.025 0.006 0.026 N c -1.490 -1.420 0.000 0.052 0.487 0.133 0 -0.674 0.107 -0.214 0.092 -0.378 0.066 0.000 0.063 0.000 0.016 0.673 0.008 . . . 0.5513 0.6988 0.3517 0.5582 0.0986 0.6720 0.6876 0.5530 0.3609 0.6517 0.7012 0.4118 0.5629 0.1013 0.6662 0.6940 0.6227 het 1086.09 109 6 128040839 . T C 1086.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.893;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.85;MQ0=0;MQRankSum=1.025;QD=9.96;ReadPosRankSum=-0.249;VQSLOD=6.2444;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,45:109:99:1116,0,1688 6 128403745 128403745 A G exonic PTPRK synonymous SNV PTPRK:NM_001291983:exon9:c.T1227C:p.V409V,PTPRK:NM_001135648:exon10:c.T1614C:p.V538V,PTPRK:NM_001291981:exon10:c.T1614C:p.V538V,PTPRK:NM_001291982:exon10:c.T1614C:p.V538V,PTPRK:NM_001291984:exon10:c.T1614C:p.V538V,PTPRK:NM_002844:exon10:c.T1614C:p.V538V 0.48 0.12 0.65 0.59 0.64 0.57 0.5892 0.1819 0.7324 0.5704 0.5268 0.6355 0.6267 0.592 0.49 0.19 0.64 0.36 0.69 rs17828130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5990 0.1760 0.7234 0.5538 0.5682 0.5387 0.6422 0.6211 0.5892 0.4893 0.1828 0.6918 0.5232 0.5370 0.5369 0.6335 0.5806 het 936.85 64 6 128403745 . A G 936.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.890;DP=64;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=58.62;MQ0=0;MQRankSum=0.593;QD=14.64;ReadPosRankSum=0.162;VQSLOD=6.7061;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,35:64:99:967,0,754 6 129381026 129381026 C A exonic LAMA2 synonymous SNV LAMA2:NM_000426:exon3:c.C381A:p.T127T,LAMA2:NM_001079823:exon3:c.C381A:p.T127T 0.94 0.9 0.98 0.97 0.97 0.89 0.9578 0.9024 0.9849 0.9742 0.9859 0.9705 0.9692 0.9023 0.95 0.9 0.97 0.95 0.94 rs4404787 . . Benign|Benign not_specified|Congenital_Muscular_Dystrophy\x2c_LAMA2-related RCV000078766.7|RCV000374091.1 MedGen|MedGen CN169374|CN239326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9609 0.9003 0.9844 0.9720 0.9767 0.9848 0.9694 0.9681 0.9033 0.9540 0.9027 0.9773 0.9636 0.9759 0.9840 0.9723 0.9644 hom 2277.03 78 6 129381026 . C A 2277.03 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.19;VQSLOD=13.9136;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2310,187,0 6 129571330 129571330 G A exonic LAMA2 nonsynonymous SNV LAMA2:NM_000426:exon13:c.G1856A:p.R619H,LAMA2:NM_001079823:exon13:c.G1856A:p.R619H 0.27 0.6 0.13 0.084 0.16 0.24 0.1828 0.5435 0.1276 0.0832 0.1884 0.1346 0.1925 0.2376 0.27 0.52 0.14 0.37 0.09 rs3816665 . . Benign|Benign not_specified|Congenital_Muscular_Dystrophy\x2c_LAMA2-related RCV000078752.8|RCV000285061.1 MedGen|MedGen CN169374|CN239326 . . . . . . 0.287 0.151 T 0.004 0.112 B 0.003 0.080 B 0.233 0.035 N 1 0.090 P 0.895 0.225 L 1.26 0.363 T 0.05 0.064 N 0.041 0.030 -1.045 0.158 T 0.036 0.155 T . . . -0.271 0.070 0.771 0.731 0.099 0.012 0.042 N c -1.681 -1.747 0.007 0.114 0.549 0.223 0 -5.14 0.026 -1.575 0.022 -3.167 0.001 0.000 0.063 0.001 0.043 16.131 0.812 Laminin IV . . 0.1735 0.5444 0.1191 0.1573 0.0780 0.1899 0.1358 0.1571 0.2347 0.2530 0.5371 0.1089 0.1490 0.0803 0.1869 0.1374 0.1762 het 1783.24 146 6 129571330 . G A 1783.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.343;DP=146;Dels=0.00;FS=1.390;HRun=0;HaplotypeScore=4.6364;MQ=58.94;MQ0=0;MQRankSum=3.187;QD=12.21;ReadPosRankSum=-1.636;VQSLOD=3.6353;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,71:146:99:1813,0,1989 6 129722453 129722453 C A exonic LAMA2 nonsynonymous SNV LAMA2:NM_000426:exon38:c.C5530A:p.R1844S,LAMA2:NM_001079823:exon38:c.C5530A:p.R1844S 0.005 . 0.0043 . 0.02 0.002 0.0107 0.0029 0.0045 0 0.0053 0.0171 0.0044 0.0024 0.013 0.0041 0.017 0.022 0.016 rs56173620 . . other|Likely benign\x2cUncertain significance not_specified|not_provided\x2cnot_provided RCV000078779.9|RCV000224783.1\x2cRCV000415922.1 MedGen|MedGen\x2cMedGen CN169374|CN221809\x2cCN221809 . . . . . . 0.729 0.038 T 0.085 0.233 B 0.059 0.252 B 0.157 0.178 N 0.974 0.255 N 1.735 0.450 L 1.97 0.221 T 0.71 0.021 N 0.194 0.238 -0.960 0.393 T 0.011 0.041 T . . . 2.879 0.407 21.8 0.975 0.336 0.146 0.183 N c -0.539 -0.404 0.001 0.081 0.554 0.246 0 4.4 0.522 0.873 0.275 0.852 0.362 0.010 0.182 0.930 0.404 8.784 0.338 Laminin alpha\x2c domain I . . 0.0104 0.0033 0.0059 0.0002 0 0.0050 0.0184 0.0093 0.0032 0.0104 0.0038 0.0084 0 0 0.0069 0.0162 0.0153 het 2260.44 166 6 129722453 . C A 2260.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.212;DP=166;Dels=0.00;FS=2.770;HRun=0;HaplotypeScore=1.6208;MQ=58.84;MQ0=0;MQRankSum=0.103;QD=13.62;ReadPosRankSum=2.221;VQSLOD=5.3704;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,87:166:99:2290,0,1980 6 129762112 129762112 G A exonic LAMA2 synonymous SNV LAMA2:NM_000426:exon43:c.G6237A:p.T2079T,LAMA2:NM_001079823:exon43:c.G6237A:p.T2079T 0.18 0.15 0.23 0.22 0.16 0.17 0.1683 0.1391 0.2274 0.2160 0.2155 0.1514 0.1689 0.1700 0.14 0.13 0.15 0.15 0.13 rs2297738 COSM3761479 4(large_intestine) Benign|Likely benign not_specified|Congenital_Muscular_Dystrophy\x2c_LAMA2-related RCV000078786.8|RCV000314145.1 MedGen|MedGen CN169374|CN239326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1730 0.1367 0.2205 0.1117 0.2162 0.2142 0.1544 0.1782 0.1715 0.1654 0.1297 0.1993 0.1258 0.2135 0.2033 0.1698 0.1864 het 1371.74 92 6 129762112 . G A 1371.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.896;DP=92;Dels=0.00;FS=1.714;HRun=2;HaplotypeScore=0.0000;MQ=58.61;MQ0=0;MQRankSum=-0.584;QD=14.91;ReadPosRankSum=-1.007;VQSLOD=5.1861;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,50:92:99:1402,0,1018 6 129807629 129807629 C T exonic LAMA2 nonsynonymous SNV LAMA2:NM_001079823:exon55:c.C7748T:p.A2583V,LAMA2:NM_000426:exon56:c.C7760T:p.A2587V 0.58 0.41 0.62 0.64 0.72 0.6 0.6678 0.4567 0.6736 0.6090 0.6464 0.7148 0.6803 0.6458 0.64 0.47 0.73 0.5 0.74 rs2229848 COSM1440401 2(large_intestine) Benign not_specified RCV000153440.2 MedGen CN169374 . . . . . . 0.056 0.381 T 0.998 0.715 D 0.965 0.695 D 0.000 0.843 D 0.000 0.588 P 2.395 0.694 M -1.2 0.785 T -2.95 0.615 D 0.862 0.849 0.056 0.834 D 0.584 0.851 D . . . 7.378 0.950 34 0.999 0.992 0.956 0.651 D c 0.708 0.692 1.000 0.747 0.638 0.428 0 5.6 0.849 4.629 0.608 0.807 0.329 0.999 0.424 0.894 0.377 19.974 0.973 Concanavalin A-like lectin/glucanase domain|Laminin G domain . . 0.6724 0.4469 0.6784 0.7520 0.6059 0.6458 0.7167 0.6793 0.6479 0.6270 0.4529 0.6878 0.7384 0.6160 0.6464 0.7152 0.6851 het 663.54 73 6 129807629 . C T 663.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.679;DP=73;Dels=0.00;FS=0.970;HRun=0;HaplotypeScore=1.5774;MQ=60.00;MQ0=0;MQRankSum=-0.790;QD=9.09;ReadPosRankSum=-0.263;VQSLOD=6.0360;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,30:73:99:694,0,1178 6 129807699 129807699 G C exonic LAMA2 synonymous SNV LAMA2:NM_001079823:exon55:c.G7818C:p.V2606V,LAMA2:NM_000426:exon56:c.G7830C:p.V2610V 0.58 0.41 0.62 0.64 0.72 0.6 0.6682 0.4587 0.6739 0.6102 0.6461 0.7149 0.6788 0.6458 0.64 0.47 0.73 0.5 0.75 rs2229849 COSM5009606 1(large_intestine) Benign|Benign not_specified|Congenital_Muscular_Dystrophy\x2c_LAMA2-related RCV000078800.8|RCV000262042.1 MedGen|MedGen CN169374|CN239326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6727 0.4496 0.6785 0.7522 0.6059 0.6458 0.7169 0.6790 0.6478 0.6279 0.4568 0.6894 0.7384 0.6113 0.6461 0.7153 0.6857 het 1472.63 123 6 129807699 . G C 1472.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.366;DP=123;Dels=0.00;FS=2.326;HRun=0;HaplotypeScore=2.8592;MQ=59.51;MQ0=0;MQRankSum=-0.038;QD=11.97;ReadPosRankSum=0.730;VQSLOD=6.2144;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,55:123:99:1503,0,1779 6 129807714 129807714 G A exonic LAMA2 synonymous SNV LAMA2:NM_001079823:exon55:c.G7833A:p.P2611P,LAMA2:NM_000426:exon56:c.G7845A:p.P2615P 0.4 0.59 0.36 0.36 0.26 0.38 0.3080 0.5382 0.3079 0.3912 0.3145 0.2597 0.2874 0.3134 0.34 0.52 0.25 0.5 0.21 rs2229850 COSM4418361 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign|Benign not_specified|Congenital_Muscular_Dystrophy\x2c_LAMA2-related RCV000078801.8|RCV000300807.1 MedGen|MedGen CN169374|CN239326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3031 0.5475 0.3052 0.2063 0.3935 0.3142 0.2591 0.2990 0.3117 0.3535 0.5389 0.3007 0.2285 0.3878 0.3129 0.2609 0.2953 het 1936.81 141 6 129807714 . G A 1936.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.915;DP=141;Dels=0.00;FS=7.668;HRun=2;HaplotypeScore=3.6522;MQ=59.26;MQ0=0;MQRankSum=-0.697;QD=13.74;ReadPosRankSum=-0.767;VQSLOD=4.4121;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,76:141:99:1967,0,1672 6 130031215 130031215 T C exonic ARHGAP18 nonsynonymous SNV ARHGAP18:NM_033515:exon1:c.A67G:p.T23A 0.81 0.83 0.82 0.71 0.83 0.87 0.8476 0.8245 0.8773 0.7316 0.8658 0.8514 0.8234 0.8810 0.84 0.83 0.85 0.88 0.87 rs3752536 COSM4407294 1(liver) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.001 0.389 N 1.000 0.090 P -1.845 0.003 N 3.45 0.053 T . . . 0.023 0.006 -1.043 0.163 T 0.024 0.103 T . . . 0.977 0.187 10.53 0.802 0.127 0.052 0.109 N c -0.450 -0.187 1.000 0.747 0.652 0.477 0 5.88 0.945 2.172 0.418 0.040 0.155 1.000 0.715 0.848 0.354 11.269 0.482 . . . 0.8488 0.8225 0.8731 0.8032 0.7285 0.8669 0.8552 0.8363 0.8832 0.8365 0.8207 0.8711 0.7980 0.7509 0.8666 0.8461 0.8473 het 1355.09 124 6 130031215 . T C 1355.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.620;DP=124;Dels=0.00;FS=2.398;HRun=1;HaplotypeScore=1.9142;MQ=59.81;MQ0=0;MQRankSum=-0.598;QD=10.93;ReadPosRankSum=1.239;VQSLOD=6.2558;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,55:124:99:1385,0,1711 6 130152479 130152479 T C exonic TMEM244 synonymous SNV TMEM244:NM_001010876:exon5:c.A372G:p.S124S 0.46 0.61 0.39 0.14 0.62 0.47 0.5499 0.6078 0.2692 0.1408 0.5598 0.6501 0.5546 0.5126 0.64 0.61 0.65 0.54 0.63 rs7758540 COSM4416061 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5337 0.6023 0.2806 0.5917 0.1333 0.5689 0.6535 0.5548 0.5173 0.5920 0.6030 0.3449 0.5993 0.1369 0.5702 0.6539 0.5847 het 927.43 79 6 130152479 . T C 927.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.437;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=58.51;MQ0=0;MQRankSum=1.495;QD=11.74;ReadPosRankSum=-0.936;VQSLOD=5.8234;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,40:79:99:957,0,841 6 130152520 130152520 A C exonic TMEM244 nonsynonymous SNV TMEM244:NM_001010876:exon5:c.T331G:p.F111V 0.24 0.18 0.24 0.14 0.46 0.21 0.3674 0.2300 0.1826 0.1392 0.3789 0.4766 0.3658 0.2546 0.4 0.25 0.48 0.34 0.47 rs7776426 COSM4419579 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.045 0.408 D 0.886 0.468 P 0.55 0.474 P 0.000 0.629 U 0.413 0.324 P 1.79 0.469 L 1.35 0.346 T -6.31 0.908 D 0.262 0.450 -1.079 0.075 T 0.059 0.247 T . . . 5.703 0.778 26.8 0.990 0.488 0.854 0.442 D c 0.170 0.146 0.000 0.038 0.487 0.133 0 3.31 0.369 1.978 0.400 1.199 0.960 1.000 0.715 0.993 0.574 9.711 0.392 . ENSG00000203756.3|ENSG00000203756.3|ENSG00000203756.3 Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Pituitary 0.3588 0.2201 0.1912 0.4177 0.1328 0.3868 0.4795 0.3847 0.2554 0.3712 0.2300 0.2255 0.4404 0.1371 0.3853 0.4804 0.3961 het 762.09 77 6 130152520 . A C 762.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.479;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9916;MQ=57.98;MQ0=0;MQRankSum=0.042;QD=9.90;ReadPosRankSum=-0.555;VQSLOD=5.3303;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,34:77:99:792,0,980 6 130154667 130154667 T C exonic TMEM244 nonsynonymous SNV TMEM244:NM_001010876:exon4:c.A257G:p.E86G 0.37 0.49 0.27 0.23 0.32 0.5 0.3505 0.4612 0.2183 0.1982 0.3041 0.3407 0.3579 0.5103 0.38 0.45 0.34 0.32 0.32 rs9492393 COSM4160176 1(skin);1(thyroid) . . . . . . . . . . . 0.153 0.243 T 0.996 0.670 D 0.833 0.580 P 0.000 0.513 D 0.124 0.356 P 1.59 0.404 L 0.95 0.433 T -5.15 0.833 D 0.272 0.472 -1.009 0.271 T 0.098 0.367 T . . . 4.806 0.645 24.8 0.999 0.948 0.894 0.496 D c 0.349 0.300 0.000 0.053 0.554 0.246 0 3.34 0.372 4.109 0.573 0.021 0.145 1.000 0.715 0.910 0.387 10.367 0.430 . ENSG00000203756.3|ENSG00000203756.3 Cells_Transformed_fibroblasts|Pituitary 0.3401 0.4640 0.2201 0.4011 0.1967 0.2985 0.3380 0.3329 0.5086 0.3541 0.4570 0.2488 0.4007 0.1952 0.2994 0.3291 0.3548 het 1735.66 149 6 130154667 . T C 1735.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.178;DP=149;Dels=0.00;FS=3.837;HRun=2;HaplotypeScore=2.2243;MQ=59.85;MQ0=0;MQRankSum=-1.115;QD=11.65;ReadPosRankSum=0.085;VQSLOD=5.8832;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,72:149:99:1766,0,1947 6 130154686 130154686 A G exonic TMEM244 nonsynonymous SNV TMEM244:NM_001010876:exon4:c.T238C:p.F80L 0.61 0.67 0.51 0.36 0.77 0.71 0.7150 0.6838 0.4003 0.3369 0.6816 0.8159 0.7152 0.7576 0.78 0.69 0.82 0.65 0.82 rs4629709 COSM4160177 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.477 N 1.000 0.204 P -1.245 0.008 N 1.39 0.338 T 3.31 0.001 N 0.031 0.058 -0.952 0.407 T 0.008 0.026 T . . . 1.743 0.270 14.66 0.843 0.147 0.064 0.123 N c -0.873 -0.593 0.000 0.042 0.554 0.246 0 4.8 0.610 0.518 0.224 0.072 0.180 0.921 0.317 0.978 0.483 7.739 0.278 . . . 0.7003 0.6812 0.4156 0.8205 0.3320 0.6857 0.8190 0.7197 0.7630 0.7236 0.6814 0.4737 0.8411 0.3331 0.6840 0.8091 0.7495 hom 4636.36 157 6 130154686 . A G 4636.36 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.62;MQ0=0;QD=29.53;VQSLOD=8.7681;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,156:157:99:4636,352,0 6 130374102 130374102 C A exonic L3MBTL3 nonsynonymous SNV L3MBTL3:NM_001007102:exon6:c.C473A:p.T158N,L3MBTL3:NM_001346550:exon6:c.C473A:p.T158N,L3MBTL3:NM_001346551:exon6:c.C473A:p.T158N,L3MBTL3:NM_032438:exon7:c.C548A:p.T183N 0.5 0.11 0.61 0.76 0.65 0.54 0.6266 0.1921 0.6634 0.7618 0.6574 0.6757 0.5931 0.5945 0.52 0.21 0.68 0.36 0.62 rs9388768 . . . . . . . . . . . . . 0.104 0.299 T 0.0 0.026 B 0.001 0.040 B 0.041 0.240 N 1.000 0.182 P 0.345 0.112 N 2.57 0.421 T 0.14 0.116 N 0.005 0.061 -1.080 0.074 T 0.028 0.120 T . . . 1.835 0.281 15.20 0.958 0.274 0.581 0.303 D c -0.413 -0.232 0.027 0.137 0.672 0.522 0 5.03 0.669 2.149 0.416 0.014 0.141 0.985 0.357 0.457 0.264 13.180 0.589 . ENSG00000198945.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000227678.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000227678.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000227678.3|ENSG00000198945.3|ENSG00000227678.3|ENSG00000198945.3|ENSG00000198945.3|ENSG00000227678.3|ENSG00000198945.3|ENSG00000227678.3|ENSG00000198945.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Liver|Lung|Lung|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6390 0.1872 0.6633 0.6838 0.7697 0.6684 0.6753 0.6491 0.5946 0.5383 0.1934 0.6499 0.5795 0.7741 0.6607 0.6712 0.6347 het 1276.64 108 6 130374102 . C A 1276.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.513;DP=108;Dels=0.00;FS=2.516;HRun=1;HaplotypeScore=1.7608;MQ=58.74;MQ0=0;MQRankSum=-0.783;QD=11.82;ReadPosRankSum=-2.105;VQSLOD=5.3166;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,51:108:99:1307,0,1640 6 130381246 130381246 T C exonic L3MBTL3 synonymous SNV L3MBTL3:NM_001007102:exon9:c.T750C:p.P250P,L3MBTL3:NM_001346550:exon9:c.T750C:p.P250P,L3MBTL3:NM_001346551:exon9:c.T750C:p.P250P,L3MBTL3:NM_032438:exon10:c.T825C:p.P275P 0.64 0.47 0.69 0.85 0.68 0.59 0.6849 0.4892 0.7191 0.8517 0.6682 0.7018 0.6611 0.6365 0.64 0.51 0.7 0.63 0.68 rs7451021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6912 0.4836 0.7202 0.7429 0.8561 0.6803 0.6979 0.6915 0.6372 0.6372 0.4889 0.7053 0.6523 0.8527 0.6716 0.6861 0.6653 het 1170.54 118 6 130381246 . T C 1170.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.117;DP=118;Dels=0.00;FS=1.534;HRun=2;HaplotypeScore=2.6641;MQ=58.80;MQ0=0;MQRankSum=-0.412;QD=9.92;ReadPosRankSum=1.129;VQSLOD=6.0699;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,56:118:99:1201,0,1531 6 130761855 130761855 A T exonic TMEM200A synonymous SNV TMEM200A:NM_001258276:exon2:c.A288T:p.T96T,TMEM200A:NM_001258278:exon2:c.A288T:p.T96T,TMEM200A:NM_052913:exon2:c.A288T:p.T96T,TMEM200A:NM_001258277:exon3:c.A288T:p.T96T 0.0044 . 0.0014 . 0.016 0.0051 0.0062 0.0008 0.0032 0 0.0059 0.0098 0.0033 0.0005 0.0069 0.0016 0.0097 . . rs79097063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0056 0.0011 0.0032 0.0001 0 0.0070 0.0094 0.0038 0.0007 0.0050 0.0018 0.0048 0 0 0.0063 0.007 0.0081 het 1576.10 152 6 130761855 . A T 1576.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.735;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9861;MQ=59.75;MQ0=0;MQRankSum=-0.827;QD=10.37;ReadPosRankSum=0.272;VQSLOD=5.7226;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,62:152:99:1606,0,2333 6 132859609 132859609 T A exonic TAAR9 unknown UNKNOWN 0.81 0.85 0.7 0.88 0.74 0.8 0.7533 0.8150 0.7300 0.8949 0.7472 0.7169 0.7506 0.8084 0.76 0.82 0.73 0.8 . rs2842899 COSM4408956 1(liver);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7523 0.8143 0.7283 0.7277 0.8953 0.7413 0.7191 0.7266 0.8086 0.7633 0.8151 0.7315 0.7483 0.8913 0.7434 0.7268 0.7546 hom 3115.30 95 6 132859609 . T A 3115.30 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6646;MQ=59.51;MQ0=0;QD=32.79;VQSLOD=9.5671;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3148,250,0 6 132891675 132891675 C T exonic TAAR6 nonsynonymous SNV TAAR6:NM_175067:exon1:c.C215T:p.A72V 0.003 . 0.0029 . 0.008 0.0051 0.0047 0.0013 0.0027 0 0.0012 0.0066 0.0077 0.0047 0.0051 0.0009 0.0072 . . rs41298393 . . . . . . . . . . . . . 0.127 0.270 T 0.001 0.067 B 0.01 0.139 B 0.389 0.133 N 0.999 0.219 N 0.465 0.131 N -0.41 0.694 T -0.64 0.187 N 0.152 0.181 -1.037 0.183 T 0.072 0.292 T 0.015 0.362 T 1.204 0.210 11.77 0.983 0.391 0.041 0.095 N c -0.831 -0.834 0.062 0.153 0.447 0.083 0 2.99 0.335 0.485 0.219 0.839 0.342 0.000 0.063 0.030 0.147 3.351 0.067 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0047 0.0014 0.0026 0.0092 0 0.0015 0.0068 0.0035 0.0045 0.0038 0.0005 0.0060 0.0199 0 0.0009 0.0067 0.0010 het 2000.48 205 6 132891675 . C T 2000.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.641;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6312;MQ=59.08;MQ0=0;MQRankSum=-0.344;QD=9.76;ReadPosRankSum=-0.024;VQSLOD=4.3831;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,85:205:99:2030,0,3547 6 132910612 132910612 G A exonic TAAR5 synonymous SNV TAAR5:NM_003967:exon1:c.C214T:p.L72L 0.67 0.73 0.68 0.56 0.67 0.72 0.6585 0.6784 0.6723 0.5208 0.7067 0.6517 0.6604 0.7167 0.66 0.67 0.65 0.72 0.6 rs3813355 COSM1440545 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6578 0.6802 0.6713 0.6255 0.5093 0.7043 0.6517 0.6623 0.7126 0.6634 0.6827 0.6691 0.6258 0.5 0.7076 0.6572 0.7065 het 4066.11 248 6 132910612 . G A 4066.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.694;DP=248;Dels=0.00;FS=2.233;HRun=1;HaplotypeScore=7.2863;MQ=58.84;MQ0=0;MQRankSum=1.046;QD=16.40;ReadPosRankSum=0.451;VQSLOD=4.5135;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,125:248:99:3433,0,3419 6 133035098 133035098 G A exonic VNN1 nonsynonymous SNV VNN1:NM_004666:exon1:c.C77T:p.T26I 0.57 0.9 0.57 0.38 0.37 0.54 0.4478 0.8415 0.6105 0.3841 0.4207 0.3606 0.4152 0.4840 0.52 0.83 0.36 0.61 0.32 rs2294757 COSM5003494 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.010 0.301 N 1 0.090 P -1.055 0.011 N -2.03 0.856 D 2.93 0.002 N 0.029 0.010 -1.032 0.198 T 0.068 0.279 T . . . -2.125 0.006 0.001 0.711 0.092 0.015 0.050 N c -2.149 -2.086 1.000 0.747 0.428 0.059 0 -3.64 0.042 0.153 0.160 -0.531 0.049 0.000 0.063 0.059 0.170 8.625 0.329 Carbon-nitrogen hydrolase ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7|ENSG00000112299.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Spleen|Thyroid|Whole_Blood 0.4478 0.8439 0.6094 0.3238 0.3797 0.4287 0.3609 0.4231 0.4847 0.5230 0.8321 0.5967 0.3567 0.4010 0.4275 0.3854 0.4073 hom 3936.74 113 6 133035098 . G A 3936.74 Mask AC=2;AF=1.00;AN=2;DP=113;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6809;MQ=59.80;MQ0=0;QD=34.84;VQSLOD=9.2773;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:113:99:3936,325,0 6 133070995 133070995 G T exonic VNN2 nonsynonymous SNV VNN2:NM_001242350:exon4:c.C547A:p.L183M,VNN2:NM_004665:exon6:c.C1210A:p.L404M,VNN2:NM_078488:exon7:c.C1051A:p.L351M 1. 1. 1. 1. 1. 1. 0.9997 1 1 1 0.9994 0.9995 1 1 1. 1. 1. 1. 1. rs4895944 . . . . . . . . . . . . . 0.113 0.294 T 0.001 0.196 B 0.003 0.272 B 0.023 0.265 N 1 0.090 P 0.65 0.162 N -3.91 0.961 D -0.99 0.301 N 0.064 0.260 -0.733 0.589 T 0.563 0.841 D . . . -0.891 0.036 0.027 0.952 0.257 0.009 0.034 N c -1.486 -1.659 1.000 0.747 0.722 0.854 0 -10.4 0.003 -0.437 0.069 -1.295 0.014 0.000 0.063 0.007 0.100 6.795 0.228 Carbon-nitrogen hydrolase . . 0.9997 1 1.0000 1 1 0.9998 0.9995 0.9996 1 0.9998 1 1 1 1 1 0.9997 1 hom 1801.98 67 6 133070995 . G T 1801.98 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=59.07;MQ0=0;QD=26.90;VQSLOD=7.1769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1835,138,0 6 133789728 133789728 G A exonic EYA4 nonsynonymous SNV EYA4:NM_001301012:exon9:c.G667A:p.G223S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_172105:exon11:c.G829A:p.G277S 0.41 0.57 0.34 0.34 0.31 0.41 0.3417 0.5308 0.2865 0.3561 0.2352 0.3197 0.3623 0.3833 0.38 0.52 0.31 0.46 0.39 rs9493627 COSM3761491;COSM3761490 1(liver);1(large_intestine) Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037882.4|RCV000247179.1|RCV000276894.1|RCV000332466.1 MedGen|MedGen|MedGen|MedGen CN169374|CN230736|CN239310|CN239435 . . . . . . 0.182 0.254 T 0.969 0.548 D 0.828 0.599 P 0.000 0.843 D 0.000 0.588 P 1.94 0.524 M -1.69 0.830 D -1.86 0.439 N 0.391 0.625 -0.202 0.776 T 0.533 0.827 D . . . 5.411 0.733 26.0 0.999 0.958 0.993 0.936 D c 0.626 0.687 1.000 0.747 0.487 0.133 0 5.49 0.809 9.516 0.970 1.048 0.713 1.000 0.715 1.000 0.888 19.744 0.962 . ENSG00000223542.1 Lung 0.3319 0.5373 0.2802 0.2986 0.3539 0.2424 0.3223 0.3253 0.3848 0.3712 0.5435 0.3173 0.3146 0.3489 0.2466 0.3103 0.3119 het 956.28 85 6 133789728 . G A 956.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.566;DP=85;Dels=0.00;FS=4.327;HRun=0;HaplotypeScore=5.6393;MQ=58.58;MQ0=1;MQRankSum=1.568;QD=11.25;ReadPosRankSum=0.565;VQSLOD=4.8494;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,36:85:99:986,0,1277 6 136590698 136590698 C T exonic BCLAF1 nonsynonymous SNV BCLAF1:NM_001077440:exon9:c.G2090A:p.R697H,BCLAF1:NM_001077441:exon9:c.G1577A:p.R526H,BCLAF1:NM_001301038:exon9:c.G2090A:p.R697H,BCLAF1:NM_014739:exon9:c.G2096A:p.R699H . . . . . . 0.4978 0.4806 0.4989 0.4976 0.5 0.4995 0.4989 0.4999 . . . . 0.25 rs62431287 COSM1579171 1(breast);2(haematopoietic_and_lymphoid_tissue);2(urinary_tract);1(oesophagus);22(upper_aerodigestive_tract);8(large_intestine);6(central_nervous_system) Benign not_specified RCV000454874.1 MedGen CN169374 . . . . . . 0.013 0.564 D 0.875 0.637 P 0.829 0.577 P 0.003 0.356 N 0.001 0.453 P 1.1 0.281 L 1.52 0.307 T -3.37 0.671 D 0.417 0.789 -1.074 0.086 T 0.074 0.300 T . . . 6.440 0.889 29.8 0.994 0.646 0.964 0.690 D c 0.500 0.535 1.000 0.517 0.707 0.730 0 5.01 0.663 4.095 0.572 0.892 0.403 1.000 0.715 0.986 0.517 12.089 0.528 . . . 0.4970 0.4665 0.4978 0.4969 0.4979 0.4997 0.4989 0.4984 0.4992 0.1931 0.1465 0.3808 0.1493 0.1734 0.4502 0.1506 0.2978 het 240.24 44 6 136590698 . C T 240.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.437;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=53.56;MQ0=0;MQRankSum=-1.466;QD=5.46;ReadPosRankSum=-1.003;VQSLOD=2.3698;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,13:44:99:270,0,775 6 136597281 136597281 A T exonic BCLAF1 nonsynonymous SNV BCLAF1:NM_001077440:exon5:c.T1376A:p.L459H,BCLAF1:NM_001301038:exon5:c.T1376A:p.L459H,BCLAF1:NM_014739:exon5:c.T1382A:p.L461H . . . . . . 0.4988 0.4882 0.4996 0.4993 0.5 0.4999 0.4989 0.5 . . . 0.48 0.46 rs1967445 COSM4160214 1(thyroid);22(upper_aerodigestive_tract) . . . . . . . . . . . 0.222 0.188 T 0.924 0.615 P 0.394 0.531 B 0.039 0.242 N 1 0.810 D 1.39 0.351 L 2.48 0.147 T 0.03 0.069 N 0.54 0.623 -1.000 0.298 T 0.018 0.077 T . . . 2.790 0.396 21.3 0.951 0.256 0.712 0.346 D c 0.098 0.144 1.000 0.429 0.722 0.854 0 4.06 0.464 1.673 0.369 1.199 0.960 1.000 0.715 1.000 0.888 8.539 0.324 . . . 0.4989 0.4870 0.4996 0.4994 0.4997 0.5 0.4997 0.4995 0.4999 0.4063 0.4790 0.4868 0.1980 0.4904 0.4997 0.3327 0.4611 het 1663.12 125 6 136597281 . A T 1663.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.713;DP=125;Dels=0.00;FS=3.335;HRun=0;HaplotypeScore=1.8675;MQ=57.43;MQ0=0;MQRankSum=1.443;QD=13.30;ReadPosRankSum=1.038;VQSLOD=3.8511;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,64:125:99:1693,0,1753 6 136597288 136597288 A C exonic BCLAF1 nonsynonymous SNV BCLAF1:NM_001077440:exon5:c.T1369G:p.Y457D,BCLAF1:NM_001301038:exon5:c.T1369G:p.Y457D,BCLAF1:NM_014739:exon5:c.T1375G:p.Y459D . . . . . . 0.4989 0.4881 0.4999 0.4995 0.5 0.4999 0.5 0.5 . . . 0.48 0.48 rs1967446 COSM4160215 1(thyroid);22(upper_aerodigestive_tract) . . . . . . . . . . . 0.309 0.148 T 0.763 0.468 P 0.261 0.439 B 0.000 0.559 D 0.994 0.810 D 1.245 0.315 L 2.62 0.130 T -0.62 0.204 N 0.829 0.824 -0.952 0.407 T 0.013 0.051 T . . . 1.823 0.280 15.12 0.976 0.344 0.780 0.381 D c 0.122 0.241 1.000 0.747 0.722 0.854 0 5.21 0.719 4.105 0.573 1.199 0.960 1.000 0.715 1.000 0.888 14.019 0.639 . . . 0.4990 0.4870 0.5000 0.4995 0.4998 0.5 0.4997 0.4996 0.4999 0.4064 0.4793 0.4869 0.1980 0.4922 0.4997 0.3327 0.4610 het 1745.18 123 6 136597288 . A C 1745.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.613;DP=123;Dels=0.00;FS=0.682;HRun=0;HaplotypeScore=1.8924;MQ=57.53;MQ0=0;MQRankSum=0.423;QD=14.19;ReadPosRankSum=-0.362;VQSLOD=4.1586;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,65:123:99:1775,0,1622 6 136599393 136599393 G C exonic BCLAF1 nonsynonymous SNV BCLAF1:NM_001077440:exon4:c.C620G:p.S207C,BCLAF1:NM_001077441:exon4:c.C626G:p.S209C,BCLAF1:NM_001301038:exon4:c.C620G:p.S207C,BCLAF1:NM_014739:exon4:c.C626G:p.S209C 0.5 0.5 0.5 0.5 0.5 0.49 0.4999 0.4998 0.4998 0.4995 0.5 0.4999 0.5 0.5 . . . 0.49 0.49 rs6940018 COSM4590961 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.004 0.912 D 0.997 0.715 D 0.823 0.618 P 0.000 0.629 D 0.971 0.388 D 1.355 0.339 L 2.83 0.156 T -1.78 0.500 N 0.699 0.730 -1.182 0.003 T 0.050 0.213 T . . . 3.650 0.496 23.2 0.991 0.520 0.854 0.442 D c 0.591 0.636 1.000 0.747 0.672 0.522 0 5.97 0.969 3.401 0.521 1.048 0.713 1.000 0.715 0.991 0.552 15.175 0.725 . . . 0.4996 0.4984 0.4999 0.4996 0.4998 0.4999 0.4995 0.4998 0.4999 0.4906 0.4997 0.5 0.4406 0.4879 0.5 0.4815 0.4947 het 2595.80 244 6 136599393 . G C 2595.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.091;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2164;MQ=58.51;MQ0=0;MQRankSum=0.223;QD=10.64;ReadPosRankSum=-0.542;VQSLOD=4.0847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,104:244:99:2626,0,4027 6 136599404 136599404 T C exonic BCLAF1 synonymous SNV BCLAF1:NM_001077440:exon4:c.A609G:p.S203S,BCLAF1:NM_001077441:exon4:c.A615G:p.S205S,BCLAF1:NM_001301038:exon4:c.A609G:p.S203S,BCLAF1:NM_014739:exon4:c.A615G:p.S205S . . . . . . 0.4987 0.4880 0.4998 0.4993 0.5 0.4997 0.5 0.4995 . . . 0.46 0.48 rs6919254 COSM4594616 1(skin);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4985 0.4848 0.4997 0.4981 0.4996 0.5000 0.4993 0.4987 0.4993 0.4863 0.4832 0.5 0.4363 0.4897 0.5 0.4833 0.4957 het 2170.13 234 6 136599404 . T C 2170.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.483;DP=234;DS;Dels=0.00;FS=2.370;HRun=0;HaplotypeScore=3.7249;MQ=58.48;MQ0=0;MQRankSum=1.045;QD=9.27;ReadPosRankSum=1.047;VQSLOD=5.4908;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:139,95:234:99:2200,0,3761 6 136599822 136599822 C G exonic BCLAF1 nonsynonymous SNV BCLAF1:NM_001077440:exon4:c.G191C:p.G64A,BCLAF1:NM_001077441:exon4:c.G197C:p.G66A,BCLAF1:NM_001301038:exon4:c.G191C:p.G64A,BCLAF1:NM_014739:exon4:c.G197C:p.G66A . . . . . . 0.4999 0.4997 0.5 0.4994 0.5 0.4999 0.5 0.5 . . . 0.5 0.48 rs9942517 COSM4160216 1(thyroid);23(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . 0.031 0.912 D 0.999 0.764 D 0.992 0.790 D 0.000 0.629 D 0.000 0.548 P 2.14 0.601 M 0.12 0.667 T -2.65 0.597 D 0.742 0.900 -0.334 0.740 T 0.400 0.752 T . . . 3.472 0.475 23.0 0.992 0.542 0.938 0.591 D c 0.728 0.731 1.000 0.747 0.719 0.830 0 5.64 0.864 5.730 0.680 0.935 0.490 1.000 0.715 1.000 0.888 19.699 0.960 . . . 0.4997 0.4987 0.5000 0.4999 0.4997 0.5 0.4996 0.4995 0.5000 0.4110 0.4936 0.4868 0.2033 0.4790 0.4997 0.3325 0.4620 het 879.06 98 6 136599822 . C G 879.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.241;DP=98;Dels=0.00;FS=2.911;HRun=0;HaplotypeScore=2.8575;MQ=56.73;MQ0=1;MQRankSum=-0.151;QD=8.97;ReadPosRankSum=-0.602;VQSLOD=2.9620;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,37:98:99:909,0,1753 6 136682172 136682172 G A exonic MAP7 nonsynonymous SNV MAP7:NM_001198617:exon10:c.C1390T:p.R464W,MAP7:NM_001198611:exon11:c.C1627T:p.R543W,MAP7:NM_001198616:exon11:c.C1561T:p.R521W,MAP7:NM_001198608:exon12:c.C1738T:p.R580W,MAP7:NM_001198609:exon12:c.C1762T:p.R588W,MAP7:NM_001198615:exon12:c.C1627T:p.R543W,MAP7:NM_001198618:exon12:c.C1234T:p.R412W,MAP7:NM_001198619:exon12:c.C1234T:p.R412W,MAP7:NM_003980:exon12:c.C1672T:p.R558W,MAP7:NM_001198614:exon13:c.C1738T:p.R580W 0.77 0.72 0.8 0.67 0.85 0.85 0.8310 0.7379 0.8264 0.6941 0.8625 0.8520 0.8040 0.8473 0.81 0.74 0.85 0.66 0.34 rs2076190 COSM3749949 3(large_intestine) . . . . . . . . . . . 0.014 0.531 D 0.995 0.764 D 0.751 0.607 P 0.059 0.223 N 0.021 0.401 P 2.98 0.858 M 1.76 0.260 T -3.66 0.747 D 0.221 0.464 -0.965 0.383 T 0.092 0.352 T . . . 5.258 0.711 25.7 0.997 0.836 0.543 0.293 D c 0.252 0.133 0.751 0.233 0.378 0.050 3 2.78 0.316 0.403 0.206 0.076 0.183 0.008 0.178 0.381 0.251 10.923 0.462 . ENSG00000135525.14|ENSG00000260418.1|ENSG00000135525.14|ENSG00000197442.8|ENSG00000260418.1|ENSG00000135525.14|ENSG00000135525.14|ENSG00000135525.14 Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle 0.8157 0.7107 0.8110 0.8249 0.6578 0.8523 0.8418 0.8244 0.8452 0.7929 0.7098 0.8 0.8113 0.6739 0.8465 0.8377 0.8395 hom 410.34 13 6 136682172 . G A 410.34 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=31.56;VQSLOD=8.0057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:443,36,0 6 137026266 137026266 T G exonic MAP3K5 synonymous SNV MAP3K5:NM_005923:exon3:c.A594C:p.I198I 0.64 0.8 0.65 0.58 0.47 0.67 0.5449 0.7574 0.6336 0.5615 0.4177 0.4871 0.4751 0.6311 0.58 0.75 0.49 0.65 0.29 rs9321567 COSM4407091 2(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5070 0.7354 0.5841 0.5106 0.5209 0.4114 0.4636 0.4761 0.6090 0.5481 0.7426 0.6408 0.51 0.5511 0.4060 0.4661 0.5031 het 298.59 30 6 137026266 . T G 298.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.862;DP=30;Dels=0.00;FS=1.455;HRun=0;HaplotypeScore=0.9916;MQ=55.27;MQ0=0;MQRankSum=0.041;QD=9.95;ReadPosRankSum=-0.539;VQSLOD=2.6543;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,15:30:99:329,0,358 6 137113137 137113137 G A exonic MAP3K5 synonymous SNV MAP3K5:NM_005923:exon1:c.C159T:p.S53S 0.56 0.53 0.64 0.57 0.56 0.55 0.6033 0.5634 0.6620 0.5615 0.5848 0.6117 0.5507 0.5841 0.58 0.55 0.6 0.5 0.24 rs55666429 COSM3749950 2(thyroid);9(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5786 0.5371 0.6373 0.6003 0.5259 0.5445 0.5836 0.5722 0.5608 0.5611 0.5339 0.6238 0.5667 0.4857 0.5331 0.5864 0.5854 het 170.38 15 6 137113137 . G A 170.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.720;DP=15;Dels=0.00;FS=3.310;HRun=2;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.984;QD=11.36;ReadPosRankSum=-1.215;VQSLOD=5.6251;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,7:15:99:200,0,261 6 137323213 137323213 G A exonic IL20RA nonsynonymous SNV IL20RA:NM_001278723:exon6:c.C811T:p.L271F,IL20RA:NM_001278724:exon6:c.C745T:p.L249F,IL20RA:NM_001278722:exon7:c.C997T:p.L333F,IL20RA:NM_014432:exon7:c.C1144T:p.L382F 0.2 0.24 0.18 0.071 0.26 0.23 0.2213 0.2216 0.1390 0.0687 0.1781 0.2551 0.2214 0.2396 0.25 0.22 0.27 0.23 0.33 rs1342642 COSM3761495 1(large_intestine) . . . . . . . . . . . 0.072 0.349 T 0.899 0.498 P 0.592 0.487 P 0.003 0.009 N 1 0.090 P 1.845 0.488 L 0.3 0.621 T -1.64 0.414 N 0.073 0.062 -1.033 0.196 T 0.148 0.475 T . . . 0.468 0.139 7.184 0.993 0.590 0.128 0.173 N c -0.400 -0.579 1.000 0.454 0.542 0.217 1 0.246 0.147 0.123 0.154 -0.286 0.084 0.000 0.063 0.000 0.016 6.723 0.224 . . . 0.2160 0.2170 0.1393 0.2272 0.0663 0.1808 0.2613 0.2338 0.2375 0.2208 0.2104 0.1663 0.2252 0.0624 0.1833 0.2551 0.2301 hom 2447.64 80 6 137323213 . G A 2447.64 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=58.89;MQ0=0;QD=30.60;VQSLOD=8.8618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2481,193,0 6 137325847 137325847 C T exonic IL20RA nonsynonymous SNV IL20RA:NM_001278723:exon5:c.G442A:p.V148I,IL20RA:NM_001278724:exon5:c.G376A:p.V126I,IL20RA:NM_001278722:exon6:c.G628A:p.V210I,IL20RA:NM_014432:exon6:c.G775A:p.V259I 0.85 0.46 0.94 1. 0.99 1. 0.9527 0.5202 0.9735 0.9991 0.9998 0.9944 0.9692 0.9974 0.84 0.53 0.99 0.73 0.94 rs1555498 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.040 B 0.000 0.002 N 1 0.090 P -1.245 0.008 N 0.46 0.606 T -0.14 0.123 N 0.058 0.041 -1.051 0.141 T 0.025 0.108 T . . . -0.975 0.033 0.018 0.178 0.005 0.003 0.017 N c -1.371 -1.300 0.000 0.050 0.615 0.372 0 -0.049 0.131 -0.440 0.069 -0.903 0.026 0.007 0.175 0.008 0.104 7.420 0.261 Fibronectin type III|Immunoglobulin-like fold|Interferon/interleukin receptor domain . . 0.9615 0.5135 0.9701 0.9748 0.9992 1.0000 0.9957 0.9694 0.9973 0.8604 0.5181 0.9527 0.9801 1 1 0.9961 0.9716 hom 2817.34 84 6 137325847 . C T 2817.34 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7714;MQ=59.97;MQ0=0;QD=33.54;VQSLOD=9.1066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2850,241,0 6 137519588 137519588 A C exonic IFNGR1 synonymous SNV IFNGR1:NM_000416:exon7:c.T1050G:p.S350S 0.094 0.049 0.11 0.11 0.15 0.076 0.1317 0.0630 0.0830 0.1201 0.1064 0.1656 0.1443 0.0875 0.13 0.061 0.16 0.054 0.09 rs11914 COSM3761497 1(thyroid);1(large_intestine) Likely benign|Benign Familial_Atypical_Mycobacteriosis\x2c_Autosomal_Recessive|not_specified RCV000313682.1|RCV000455568.1 MedGen|MedGen CN239257|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1316 0.0622 0.0845 0.2142 0.1231 0.1101 0.1654 0.1478 0.0854 0.1234 0.0624 0.1077 0.2086 0.1399 0.0967 0.1618 0.1337 het 1191.74 90 6 137519588 . A C 1191.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.052;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8441;MQ=58.50;MQ0=0;MQRankSum=-0.595;QD=13.24;ReadPosRankSum=0.021;VQSLOD=5.5853;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,46:90:99:1222,0,1239 6 137540423 137540423 C T exonic IFNGR1 synonymous SNV IFNGR1:NM_000416:exon1:c.G42A:p.V14V 0.0044 0.0015 0.0086 . 0.012 0.002 0.0072 0.0031 0.0040 0 0.0028 0.0109 0.0032 0.0018 0.0052 0.0023 0.0067 . . rs17181471 . . Likely benign|Uncertain significance Interferon_gamma_receptor_deficiency|Familial_Atypical_Mycobacteriosis\x2c_Autosomal_Recessive RCV000030043.1|RCV000279435.1 MedGen|MedGen C1112429|CN239257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0059 0.0020 0.0038 0.0029 0 0.0015 0.0103 0.0060 0.0014 0.0057 0.0016 0.0084 0 0 0.0017 0.0097 0.0020 het 174.80 18 6 137540423 . C T 174.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.618;DP=18;Dels=0.00;FS=1.957;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=9.71;ReadPosRankSum=-0.088;VQSLOD=6.0412;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:205,0,202 6 138413269 138413269 A G exonic PERP synonymous SNV PERP:NM_022121:exon3:c.T492C:p.I164I 0.63 0.55 0.53 0.72 0.58 0.77 0.5907 0.5361 0.5381 0.7186 0.5400 0.5596 0.5962 0.7402 0.55 0.53 0.55 0.63 0.48 rs648396 COSM4160227 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5887 0.5387 0.5416 0.6015 0.7260 0.5365 0.5564 0.5810 0.7401 0.5555 0.5366 0.5526 0.6467 0.7354 0.5402 0.5499 0.5399 hom 2245.29 72 6 138413269 . A G 2245.29 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=31.18;VQSLOD=8.9777;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2278,193,0 6 138413333 138413333 G C exonic PERP nonsynonymous SNV PERP:NM_022121:exon3:c.C428G:p.P143R 0.63 0.55 0.53 0.72 0.58 0.78 0.5901 0.5353 0.5351 0.7175 0.5396 0.5593 0.5969 0.7406 0.54 0.53 0.55 0.63 0.48 rs648802 . . . . . . . . . . . . . 0.489 0.080 T 0.046 0.205 B 0.04 0.225 B 0.606 0.057 N 1 0.090 P 1.245 0.315 L -2.45 0.889 D -0.71 0.202 N 0.079 0.071 -0.900 0.480 T 0.197 0.551 T . . . -1.245 0.024 0.005 0.887 0.176 0.168 0.193 N c -1.177 -1.223 0.921 0.266 0.706 0.609 0 -2.56 0.059 -0.249 0.088 1.048 0.713 0.000 0.063 0.479 0.267 2.075 0.034 . . . 0.5881 0.5381 0.5391 0.6013 0.7240 0.5362 0.5562 0.5800 0.7407 0.5547 0.5348 0.5538 0.6457 0.7345 0.5401 0.5496 0.5377 hom 2355.30 78 6 138413333 . G C 2355.30 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7675;MQ=58.88;MQ0=0;QD=30.20;VQSLOD=8.8208;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2388,196,0 6 139094937 139094937 C T exonic CCDC28A synonymous SNV CCDC28A:NM_015439:exon1:c.C126T:p.S42S 0.023 0.014 0.059 0.001 0.051 0.0041 0.0318 0.0126 0.0480 0.0020 0.0615 0.0387 0.0243 0.0082 0.032 0.015 0.041 0.011 0.041 rs11154999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0333 0.0128 0.0452 0.0341 0.0017 0.0593 0.0393 0.0323 0.0072 0.0342 0.0131 0.0465 0.0232 0.0037 0.0584 0.0434 0.0397 het 1939 130 6 139094937 . C T 1939 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.069;DP=130;Dels=0.00;FS=2.322;HRun=0;HaplotypeScore=2.8708;MQ=58.56;MQ0=0;MQRankSum=-0.412;QD=14.92;ReadPosRankSum=-0.502;VQSLOD=5.4291;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,74:130:99:1969,0,1328 6 139487836 139487836 T C exonic HECA synonymous SNV HECA:NM_016217:exon2:c.T687C:p.N229N 0.63 0.87 0.72 0.22 0.69 0.59 0.6530 0.8545 0.7127 0.2169 0.6463 0.6782 0.6591 0.6078 0.73 0.85 0.67 0.69 0.32 rs3173082 COSM4160246 1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6468 0.8596 0.7155 0.7040 0.2043 0.6368 0.6738 0.6679 0.6053 0.6893 0.8531 0.7172 0.6967 0.1778 0.6377 0.6627 0.6458 het 143.19 14 6 139487836 . T C 143.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.037;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9038;MQ=56.62;MQ0=0;MQRankSum=0.678;QD=10.23;ReadPosRankSum=0.278;VQSLOD=3.8298;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,7:14:45.74:173,0,46 6 142718801 142718801 G A exonic ADGRG6 synonymous SNV ADGRG6:NM_001032394:exon9:c.G1392A:p.L464L,ADGRG6:NM_001032395:exon9:c.G1392A:p.L464L,ADGRG6:NM_020455:exon10:c.G1476A:p.L492L,ADGRG6:NM_198569:exon10:c.G1476A:p.L492L 1. 1. 1. 1. 0.99 0.99 0.9957 0.9986 0.9976 1 0.9988 0.9941 0.9989 0.9953 0.99 1. 0.99 0.75 . rs989946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9953 0.9986 0.9958 0.9942 0.9999 0.9984 0.9935 0.9939 0.9955 0.9949 0.9984 0.9952 0.9967 1 0.9991 0.9914 0.9939 hom 1570.88 53 6 142718801 . G A 1570.88 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=29.64;VQSLOD=8.8512;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1604,123,0 6 142758631 142758631 A G exonic ADGRG6 nonsynonymous SNV ADGRG6:NM_001032394:exon22:c.A3296G:p.Q1099R,ADGRG6:NM_001032395:exon22:c.A3296G:p.Q1099R,ADGRG6:NM_020455:exon23:c.A3380G:p.Q1127R,ADGRG6:NM_198569:exon23:c.A3380G:p.Q1127R 1. 1. 1. 1. 1. 1. 0.9985 0.9991 0.9999 1 0.9992 0.9976 0.9989 0.9999 1. 1. 1. 1. . rs1262686 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P -1.04 0.011 N 1.38 0.340 T 1.77 0.005 N 0.037 0.350 -0.990 0.325 T 0.008 0.029 T . . . 1.475 0.240 13.18 0.574 0.056 0.214 0.212 N c -0.754 -0.428 0.975 0.296 0.707 0.730 0 5.29 0.743 4.611 0.606 0.136 0.221 0.982 0.353 0.979 0.486 14.302 0.658 GPCR\x2c family 2-like . . 0.9984 0.9991 0.9998 0.9999 1 0.9993 0.9969 0.9989 0.9999 0.9967 0.9992 1 1 1 1 0.9939 0.9969 hom 3173.22 119 6 142758631 . A G 3173.22 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8793;MQ=59.44;MQ0=0;QD=26.67;VQSLOD=6.8006;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3206,256,0 6 143074700 143074700 T C exonic HIVEP2 synonymous SNV HIVEP2:NM_006734:exon10:c.A6885G:p.P2295P 0.77 0.87 0.72 0.83 0.61 0.78 0.6891 0.8395 0.6873 0.8486 0.6396 0.6362 0.6696 0.7524 0.7 0.83 0.64 0.8 0.68 rs169098 COSM5021531 1(bone) Benign not_specified RCV000455231.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6853 0.8411 0.6813 0.6966 0.8413 0.6392 0.6319 0.6548 0.7537 0.7018 0.8349 0.6734 0.6788 0.8243 0.6315 0.6300 0.6965 hom 5020.91 177 6 143074700 . T C 5020.91 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7223;MQ=59.27;MQ0=0;QD=28.37;VQSLOD=3.1901;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,176:177:99:5020,406,0 6 143090803 143090803 C T exonic HIVEP2 synonymous SNV HIVEP2:NM_006734:exon5:c.G5073A:p.L1691L 0.028 0.0015 0.042 . 0.061 0.051 0.0472 0.0079 0.0267 0.0001 0.0649 0.0607 0.0644 0.0466 0.043 0.0082 0.058 0.033 . rs34296594 COSM3761506 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0469 0.0088 0.0285 0.0572 0.0001 0.0640 0.0603 0.0584 0.0458 0.0379 0.0096 0.0203 0.0497 0 0.0556 0.0545 0.0449 het 2167.98 133 6 143090803 . C T 2167.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.923;DP=133;Dels=0.00;FS=3.256;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;MQRankSum=-0.517;QD=16.30;ReadPosRankSum=0.816;VQSLOD=5.5120;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,80:133:99:2198,0,1434 6 143091263 143091263 A G exonic HIVEP2 nonsynonymous SNV HIVEP2:NM_006734:exon5:c.T4613C:p.L1538P 0.98 0.99 0.97 1. 0.97 0.95 0.9731 0.9930 0.9837 0.9997 0.9936 0.9671 0.95 0.9575 0.98 0.99 0.97 0.99 0.95 rs109836 . . . . . . . . . . . . . 0.082 0.332 T 0.0 0.026 B 0.0 0.013 B 0.003 0.350 N 1.000 0.090 P -2.19 0.001 N 4.2 0.027 T 0.35 0.038 N 0.048 0.029 -0.993 0.319 T 0.001 0.003 T . . . -0.117 0.083 1.609 0.837 0.144 0.030 0.077 N c -1.324 -1.182 0.998 0.357 0.706 0.609 0 3.46 0.386 0.819 0.268 0.138 0.222 0.509 0.268 0.088 0.184 2.339 0.040 . . . 0.9718 0.9925 0.9810 0.8888 0.9998 0.9932 0.9693 0.9650 0.9572 0.9793 0.9923 0.9761 0.8808 1 0.9931 0.9688 0.9735 hom 2811.65 90 6 143091263 . A G 2811.65 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=59.49;MQ0=0;QD=31.24;VQSLOD=9.5909;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2845,238,0 6 143825104 143825104 G T exonic FUCA2 nonsynonymous SNV FUCA2:NM_032020:exon3:c.C698A:p.A233E 0.089 0.014 0.13 0.002 0.27 0.064 0.1855 0.0421 0.1020 0.0034 0.1946 0.2664 0.1984 0.0986 0.19 0.047 0.27 0.13 0.21 rs11155297 COSM1440900 1(prostate);1(large_intestine) . . . . . . . . . . . 0.038 0.427 D 0.999 0.764 D 0.995 0.818 D 0.000 0.843 D 0.000 0.810 P 2.64 0.775 M 0.47 0.561 T -3.97 0.736 D 0.307 0.367 -0.700 0.605 T 0.216 0.578 T . . . 3.256 0.450 22.8 0.952 0.257 0.982 0.806 D c 0.332 0.183 1.000 0.443 0.707 0.730 0 3.81 0.429 7.763 0.840 1.048 0.713 1.000 0.715 0.002 0.062 11.825 0.513 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11|ENSG00000229036.3|ENSG00000034693.10|ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11|ENSG00000189007.11 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.1839 0.0408 0.1149 0.2293 0.0038 0.1903 0.2688 0.2248 0.0974 0.1744 0.0456 0.1169 0.2682 0.0043 0.1927 0.2632 0.1980 het 595.48 53 6 143825104 . G T 595.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.905;DP=53;Dels=0.00;FS=6.015;HRun=1;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;MQRankSum=-0.724;QD=11.24;ReadPosRankSum=0.545;VQSLOD=5.3849;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:625,0,769 6 144181619 144181619 A G exonic LTV1 synonymous SNV LTV1:NM_001329953:exon7:c.A315G:p.E105E,LTV1:NM_032860:exon7:c.A852G:p.E284E 0.05 0.069 0.023 0.002 0.054 0.091 0.0499 0.0611 0.0238 0.0002 0.0735 0.0456 0.0584 0.0948 0.048 0.055 0.045 0.043 0.041 rs7454959 COSM3761509 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0484 0.0598 0.0197 0.0284 0.0002 0.0752 0.0473 0.0461 0.0929 0.0502 0.0576 0.0239 0.0132 0 0.0736 0.0472 0.0643 het 2268.37 185 6 144181619 . A G 2268.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.161;DP=185;Dels=0.00;FS=3.365;HRun=2;HaplotypeScore=0.9947;MQ=59.55;MQ0=0;MQRankSum=-1.003;QD=12.26;ReadPosRankSum=-1.914;VQSLOD=5.7172;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,89:185:99:2298,0,2705 6 145051594 145051594 G A exonic UTRN synonymous SNV UTRN:NM_007124:exon53:c.G7911A:p.E2637E 0.64 0.91 0.62 0.87 0.23 0.49 0.4110 0.8175 0.7017 0.8793 0.2201 0.2485 0.3573 0.4421 0.43 0.79 0.25 0.54 0.3 rs4305737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4122 0.8224 0.6770 0.3770 0.8796 0.2206 0.2424 0.3647 0.4444 0.4398 0.8099 0.6163 0.3907 0.8685 0.2155 0.2280 0.3422 het 776.14 54 6 145051594 . G A 776.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.430;DP=54;Dels=0.00;FS=4.210;HRun=1;HaplotypeScore=0.9832;MQ=59.57;MQ0=0;MQRankSum=0.775;QD=14.37;ReadPosRankSum=0.357;VQSLOD=6.4569;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,30:54:99:806,0,723 6 146007332 146007332 C T exonic EPM2A synonymous SNV EPM2A:NM_001018041:exon2:c.G402A:p.G134G,EPM2A:NM_005670:exon2:c.G402A:p.G134G 0.12 0.0008 0.33 0.0089 0.23 0.15 0.2051 0.0401 0.3684 0.0079 0.2281 0.2375 0.1656 0.1611 0.18 0.046 0.25 0.098 0.2 rs35230590 COSM5618916;COSM5618914;COSM5618915 1(breast) other not_specified RCV000116986.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2150 0.0376 0.3576 0.2543 0.0084 0.2262 0.2386 0.2068 0.1589 0.1801 0.0440 0.3074 0.2848 0.0062 0.2222 0.2565 0.2223 het 1047 68 6 146007332 . C T 1047 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.787;DP=68;Dels=0.00;FS=5.069;HRun=0;HaplotypeScore=1.7262;MQ=58.48;MQ0=0;MQRankSum=-1.208;QD=15.40;ReadPosRankSum=-0.556;VQSLOD=4.3428;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,40:68:99:1077,0,733 6 146125793 146125793 A T exonic FBXO30 nonsynonymous SNV FBXO30:NM_001348092:exon2:c.T1749A:p.H583Q,FBXO30:NM_032145:exon2:c.T1749A:p.H583Q . . . . . . 0.3863 0.2125 0.1989 0.2535 0.4849 0.4274 0.4020 0.4885 0.35 0.22 0.41 0.29 0.4 rs3811102 COSM3736404 3(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.075 0.344 T 0.001 0.067 B 0.007 0.121 B 0.000 0.629 N 0.002 0.449 P 1.08 0.273 L 2.29 0.171 T -1.31 0.328 N 0.088 0.084 -0.979 0.352 T 0.010 0.037 T . . . 0.070 0.100 3.285 0.933 0.224 0.744 0.361 D c -0.476 -0.352 1.000 0.517 0.672 0.522 0 0.452 0.158 0.294 0.187 1.088 0.866 0.958 0.332 0.998 0.697 5.472 0.159 . ENSG00000118496.4|ENSG00000235652.3|ENSG00000112425.9|ENSG00000235652.3|ENSG00000235652.3|ENSG00000217612.2|ENSG00000235652.3 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Testis|Thyroid 0.3792 0.2129 0.2074 0.3802 0.2482 0.4878 0.4219 0.3826 0.4880 0.3453 0.2113 0.2129 0.3510 0.2506 0.4851 0.4050 0.3888 het 1282.84 118 6 146125793 . A T 1282.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.023;DP=118;Dels=0.00;FS=1.478;HRun=1;HaplotypeScore=2.4923;MQ=58.54;MQ0=0;MQRankSum=0.747;QD=10.87;ReadPosRankSum=0.022;VQSLOD=5.5636;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,53:118:99:1313,0,1794 6 146126419 146126419 C T exonic FBXO30 nonsynonymous SNV FBXO30:NM_001348092:exon2:c.G1123A:p.V375M,FBXO30:NM_032145:exon2:c.G1123A:p.V375M 0.33 0.25 0.23 0.23 0.41 0.51 0.3898 0.2497 0.2010 0.2532 0.4843 0.4278 0.4031 0.4886 0.36 0.25 0.41 0.32 0.39 rs9373475 COSM3736405 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.056 0.381 T 0.043 0.202 B 0.007 0.121 B 0.000 0.513 N 1 0.090 P 0.695 0.181 N 2.19 0.187 T 0.11 0.057 N 0.031 0.012 -0.986 0.336 T 0.007 0.023 T . . . 0.954 0.185 10.39 0.713 0.093 0.259 0.226 N c -1.343 -1.319 1.000 0.431 0.672 0.522 0 -3.18 0.048 -0.231 0.090 -0.116 0.114 0.230 0.244 0.973 0.468 2.770 0.050 . ENSG00000118496.4|ENSG00000235652.3|ENSG00000112425.9|ENSG00000235652.3|ENSG00000235652.3|ENSG00000217612.2|ENSG00000235652.3 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Testis|Thyroid 0.3823 0.2504 0.2101 0.3806 0.2481 0.4879 0.4226 0.3860 0.4882 0.3563 0.2487 0.2146 0.3510 0.2503 0.4845 0.4059 0.3934 het 2104.89 184 6 146126419 . C T 2104.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.715;DP=184;Dels=0.00;FS=0.554;HRun=0;HaplotypeScore=1.6630;MQ=59.32;MQ0=0;MQRankSum=-0.164;QD=11.44;ReadPosRankSum=-0.530;VQSLOD=6.7768;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,82:184:99:2135,0,2643 6 146234644 146234644 G A exonic SHPRH synonymous SNV SHPRH:NM_001042683:exon24:c.C4296T:p.C1432C,SHPRH:NM_173082:exon24:c.C4308T:p.C1436C 0.84 0.96 0.86 0.81 0.75 0.76 0.7804 0.9330 0.8908 0.8174 0.6620 0.7450 0.7685 0.7846 0.81 0.93 0.76 0.86 0.77 rs9497426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7825 0.9348 0.8871 0.7608 0.8218 0.6576 0.7513 0.7842 0.7845 0.8023 0.9376 0.8950 0.7980 0.8269 0.6485 0.7536 0.7688 hom 3317.08 118 6 146234644 . G A 3317.08 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;QD=28.11;VQSLOD=8.6069;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3317,256,0 6 146351069 146351069 G A exonic GRM1 nonsynonymous SNV GRM1:NM_001278064:exon1:c.G416A:p.R139Q,GRM1:NM_001278066:exon1:c.G416A:p.R139Q,GRM1:NM_001278067:exon1:c.G416A:p.R139Q,GRM1:NM_001278065:exon2:c.G416A:p.R139Q . . . . . . 3.295e-05 9.61e-05 0 0 0 4.495e-05 0 0 0.0001 . 0.0001 . . rs140910734 . . . . . . . . . . . . . 0.379 0.159 T 0.796 0.483 P 0.221 0.361 B 0.000 0.559 D 1.000 0.588 D 1.33 0.334 L -1.63 0.825 D -1.05 0.283 N 0.343 0.404 -0.560 0.664 T 0.260 0.631 T 0.035 0.564 D 5.061 0.682 25.2 0.999 0.972 0.953 0.640 D c 0.279 0.430 1.000 0.747 0.549 0.223 0 5.69 0.883 7.808 0.845 1.045 0.669 1.000 0.715 1.000 0.888 19.801 0.965 Periplasmic binding protein-like I|Receptor\x2c ligand binding region . . 3.249e-05 6.534e-05 0 0 0 0 6.267e-05 0 0 . . . . . . . . het 1226.24 97 6 146351069 . G A 1226.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.981;DP=97;Dels=0.00;FS=0.771;HRun=0;HaplotypeScore=3.4698;MQ=59.18;MQ0=0;MQRankSum=0.323;QD=12.64;ReadPosRankSum=-0.514;VQSLOD=4.7869;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1256,0,1409 6 146755140 146755140 G A exonic GRM1 synonymous SNV GRM1:NM_001278064:exon8:c.G2793A:p.K931K 0.53 0.49 0.46 0.55 0.55 0.63 0.5090 0.4888 0.3731 0.5074 0.4472 0.5192 0.5033 0.6015 0.52 0.49 0.53 0.51 0.54 rs2942 COSM4160266 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Likely benign not_specified RCV000117204.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5035 0.4898 0.3842 0.5718 0.5088 0.4469 0.5186 0.5142 0.6003 0.4973 0.4859 0.4545 0.6026 0.5173 0.4473 0.5147 0.4816 het 3154.05 247 6 146755140 . G A 3154.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.571;DP=247;Dels=0.00;FS=0.991;HRun=2;HaplotypeScore=5.8442;MQ=59.22;MQ0=0;MQRankSum=0.592;QD=12.77;ReadPosRankSum=-0.847;VQSLOD=5.2341;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,123:247:99:3184,0,3356 6 146755324 146755324 T C exonic GRM1 nonsynonymous SNV GRM1:NM_001278064:exon8:c.T2977C:p.S993P 0.6 0.74 0.47 0.55 0.55 0.63 0.5311 0.7112 0.3869 0.5091 0.4474 0.5216 0.5167 0.6037 0.59 0.71 0.53 0.56 0.42 rs6923492 COSM4160267 1(pancreas);1(thyroid);1(large_intestine) Likely benign not_specified RCV000117205.2 MedGen CN169374 . . . . . . 0.825 0.029 T 0.0 0.026 B 0.0 0.013 B 0.146 0.181 N 1 0.207 P -0.895 0.014 N -2.36 0.882 D -0.1 0.085 N 0.009 0.003 -1.044 0.162 T 0.136 0.451 T . . . 0.803 0.171 9.485 0.602 0.063 0.006 0.026 N c -1.213 -1.031 0.997 0.349 0.598 0.340 0 3.42 0.381 0.127 0.155 0.014 0.141 0.000 0.063 0.151 0.205 8.553 0.324 . . . 0.5202 0.7116 0.3970 0.5726 0.5090 0.4472 0.5202 0.5250 0.6012 0.5609 0.7027 0.4761 0.6026 0.5180 0.4483 0.5173 0.4979 het 1681.04 136 6 146755324 . T C 1681.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.241;DP=136;Dels=0.00;FS=16.318;HRun=3;HaplotypeScore=1.9311;MQ=58.80;MQ0=0;MQRankSum=0.926;QD=12.36;ReadPosRankSum=-0.141;VQSLOD=3.0421;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,59:136:99:1711,0,2029 6 146755515 146755515 T G exonic GRM1 synonymous SNV GRM1:NM_001278064:exon8:c.T3168G:p.G1056G 0.69 0.95 0.51 0.61 0.58 0.66 0.5773 0.8952 0.4130 0.5874 0.4700 0.5525 0.5455 0.6484 0.67 0.89 0.57 0.66 0.27 rs6923864 . . Likely benign not_specified RCV000117206.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5645 0.8980 0.4256 0.6163 0.5890 0.4665 0.5503 0.5614 0.6477 0.6343 0.8872 0.5119 0.6358 0.6064 0.4716 0.5408 0.5378 het 589.56 55 6 146755515 . T G 589.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.432;DP=55;Dels=0.00;FS=1.212;HRun=2;HaplotypeScore=2.6984;MQ=60.00;MQ0=0;MQRankSum=1.749;QD=10.72;ReadPosRankSum=1.137;VQSLOD=4.8666;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,24:55:99:620,0,918 6 146755842 146755842 C A exonic GRM1 synonymous SNV GRM1:NM_001278064:exon8:c.C3495A:p.P1165P 0.59 0.7 0.47 0.55 0.55 0.63 0.5277 0.6814 0.3851 0.5128 0.4476 0.5217 0.5112 0.6017 0.58 0.68 0.53 0.58 0.59 rs9373491 COSM4160268 1(thyroid);1(large_intestine) Likely benign not_specified RCV000117208.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5192 0.6770 0.3948 0.5726 0.5149 0.4446 0.5193 0.5220 0.6002 0.5516 0.6723 0.4725 0.6093 0.5285 0.4473 0.5155 0.4887 het 1752.98 136 6 146755842 . C A 1752.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.467;DP=136;Dels=0.00;FS=1.383;HRun=0;HaplotypeScore=9.6062;MQ=58.37;MQ0=0;MQRankSum=-0.407;QD=12.89;ReadPosRankSum=-0.737;VQSLOD=4.1658;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,66:136:99:1783,0,1775 6 147635413 147635413 A G exonic STXBP5 nonsynonymous SNV STXBP5:NM_001127715:exon13:c.A1307G:p.N436S,STXBP5:NM_139244:exon13:c.A1307G:p.N436S 0.46 0.43 0.54 0.29 0.52 0.54 0.5062 0.4402 0.5428 0.2781 0.5070 0.5386 0.5077 0.5098 0.5 0.43 0.54 0.37 0.46 rs1039084 COSM4003723;COSM4003722 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 0.858 0.284 P -1.04 0.011 N 1.62 0.646 T 0.68 0.022 N 0.006 0.001 -0.997 0.309 T 0.021 0.089 T . . . 0.336 0.126 6.039 0.618 0.066 0.579 0.302 D c -0.690 -0.442 0.054 0.150 0.615 0.372 0 1.08 0.194 2.927 0.483 1.199 0.960 1.000 0.715 0.999 0.750 7.001 0.238 . . . 0.5074 0.4342 0.5373 0.5331 0.2706 0.4993 0.5412 0.5215 0.5161 0.4834 0.4449 0.4746 0.5861 0.2636 0.5083 0.5204 0.5123 het 1194.05 125 6 147635413 . A G 1194.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.016;DP=125;Dels=0.00;FS=0.706;HRun=0;HaplotypeScore=2.8178;MQ=57.45;MQ0=0;MQRankSum=0.767;QD=9.55;ReadPosRankSum=0.069;VQSLOD=4.1148;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,47:125:99:1224,0,2037 6 147680359 147680359 A G exonic STXBP5 synonymous SNV STXBP5:NM_139244:exon21:c.A2337G:p.L779L,STXBP5:NM_001127715:exon23:c.A2445G:p.L815L 0.5 0.57 0.56 0.29 0.54 0.56 0.5326 0.5746 0.5605 0.2789 0.5130 0.5579 0.5176 0.5256 0.56 0.56 0.56 0.45 0.68 rs9390459 COSM4003724;COSM4003726;COSM4003725 3(haematopoietic_and_lymphoid_tissue) . . . . . Coagulation factor levels . -4.8 20231535 rs9390459 1E-22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5312 0.5730 0.5556 0.5551 0.2712 0.5054 0.5610 0.5423 0.5309 0.5306 0.5783 0.4928 0.5967 0.2621 0.5166 0.5359 0.5287 het 1232.20 115 6 147680359 . A G 1232.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.668;DP=115;Dels=0.00;FS=16.489;HRun=0;HaplotypeScore=3.4256;MQ=59.35;MQ0=0;MQRankSum=0.866;QD=10.71;ReadPosRankSum=0.011;VQSLOD=3.5879;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,51:115:99:1262,0,1568 6 148865257 148865257 A G exonic SASH1 nonsynonymous SNV SASH1:NM_001346507:exon11:c.A1934G:p.Q645R,SASH1:NM_001346508:exon11:c.A2423G:p.Q808R,SASH1:NM_001346509:exon11:c.A2300G:p.Q767R,SASH1:NM_001346505:exon18:c.A2516G:p.Q839R,SASH1:NM_015278:exon18:c.A2651G:p.Q884R,SASH1:NM_001346506:exon19:c.A2279G:p.Q760R 0.59 0.7 0.62 0.36 0.57 0.64 0.5878 0.6795 0.6109 0.3605 0.5631 0.5950 0.5508 0.6154 0.63 0.68 0.6 0.51 0.49 rs208696 COSM4160273 1(pancreas);1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.863 0.071 N 1 0.090 P -1.1 0.010 N 1.34 0.348 T 0.48 0.030 N 0.007 0.000 -0.976 0.360 T 0.007 0.024 T . . . -1.576 0.015 0.002 0.172 0.005 0.005 0.025 N c -1.592 -1.532 0.993 0.330 0.707 0.730 0 -1.65 0.078 -0.469 0.067 0.076 0.183 0.000 0.063 0.007 0.100 6.506 0.213 . . . 0.5839 0.6741 0.6031 0.6153 0.3578 0.5660 0.5927 0.5881 0.6150 0.5946 0.6850 0.5998 0.5828 0.3385 0.5611 0.5806 0.5470 hom 7985.49 248 6 148865257 . A G 7985.49 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8300;MQ=59.40;MQ0=0;QD=32.20;VQSLOD=9.7410;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7984,668,0 6 149721690 149721690 G A exonic SUMO4 nonsynonymous SNV SUMO4:NM_001002255:exon1:c.G163A:p.V55M 0.65 0.77 0.6 0.74 0.48 0.59 0.5551 0.7276 0.6311 0.7181 0.5330 0.4894 0.5463 0.5826 0.56 0.71 0.49 0.73 0.52 rs237025 . . other Diabetes_mellitus\x2c_insulin-dependent\x2c_5 RCV000002143.1 MedGen:OMIM C1838260:600320 . . . . . . 1.0 0.010 T . . . . . . 0.019 0.273 N 0.000 0.588 P . . . 1.53 0.304 T 2.52 0.002 N 0.021 0.005 -0.970 0.372 T 0.007 0.025 T . . . -2.624 0.003 0.001 0.312 0.017 0.110 0.161 N c -1.287 -1.455 0.143 0.173 0.563 0.310 0 -0.47 0.115 0.259 0.180 -1.705 0.008 0.985 0.357 0.005 0.090 5.281 0.149 Rad60/SUMO-like domain|Ubiquitin domain|Ubiquitin-related domain ENSG00000231760.2 Cells_Transformed_fibroblasts 0.5527 0.7265 0.6153 0.4767 0.7183 0.5326 0.4879 0.5326 0.5834 0.5738 0.7206 0.6244 0.4735 0.6990 0.5395 0.4836 0.5479 het 3122.70 250 6 149721690 . G A 3122.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.857;DP=250;DS;Dels=0.00;FS=0.982;HRun=1;HaplotypeScore=6.4476;MQ=59.42;MQ0=0;MQRankSum=0.049;QD=12.49;ReadPosRankSum=0.535;VQSLOD=5.0042;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,112:250:99:3153,0,3996 6 150211123 150211123 A T exonic RAET1E nonsynonymous SNV RAET1E:NM_001243325:exon2:c.T136A:p.Y46N,RAET1E:NM_001243327:exon2:c.T244A:p.Y82N,RAET1E:NM_139165:exon2:c.T244A:p.Y82N,RAET1E:NM_001243328:exon3:c.T244A:p.Y82N 0.87 0.98 0.73 0.95 0.77 0.85 0.7855 0.9549 0.6775 0.9415 0.6807 0.7521 0.8106 0.8479 0.82 0.95 0.76 0.85 0.86 rs2151910 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.022 0.267 N 1 0.090 P -2.765 0.000 N 3.02 0.090 T 5.3 0.000 N 0.036 0.021 -0.967 0.379 T 0.001 0.003 T . . . -1.665 0.013 0.002 0.840 0.145 0.001 0.006 N c -1.611 -1.480 1.000 0.432 0.497 0.185 0 2.51 0.293 0.211 0.171 0.008 0.138 0.000 0.063 0.023 0.138 4.354 0.105 MHC class I alpha chain\x2c alpha1 alpha2 domains|MHC class I-like antigen recognition-like|MHC classes I/II-like antigen recognition protein ENSG00000203722.3|ENSG00000231760.2|ENSG00000216906.2|ENSG00000216906.2|ENSG00000216906.2|ENSG00000120256.5|ENSG00000216906.2|ENSG00000203722.3|ENSG00000120256.5|ENSG00000055211.8 Brain_Cortex|Cells_Transformed_fibroblasts|Colon_Sigmoid|Heart_Atrial_Appendage|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7781 0.9577 0.6784 0.8279 0.9492 0.6903 0.7505 0.7836 0.8483 0.8045 0.9532 0.6854 0.8233 0.9549 0.6894 0.7368 0.7729 het 1092.94 90 6 150211123 . A T 1092.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.998;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.74;MQ0=0;MQRankSum=0.572;QD=12.14;ReadPosRankSum=0.231;VQSLOD=6.9730;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,40:90:99:1123,0,1301 6 150342232 150342232 G A exonic RAET1L nonsynonymous SNV RAET1L:NM_130900:exon3:c.C440T:p.T147I 0.33 0.3 0.29 0.24 0.44 0.37 0.3789 0.3068 0.1883 0.2236 0.4483 0.4366 0.4284 0.3755 0.4 0.31 0.45 0.3 0.5 rs61730071 COSM4003729 3(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.949 0.021 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P -0.35 0.031 N 5.79 0.007 T 1.35 0.009 N 0.043 0.023 -1.036 0.186 T 0.000 0.002 T . . . -1.867 0.010 0.002 0.062 0.000 0.000 0.002 N c -1.689 -1.731 0.000 0.044 0.497 0.185 0 -0.819 0.102 -1.776 0.019 -1.356 0.013 0.000 0.063 0.000 0.016 2.170 0.036 MHC class I alpha chain\x2c alpha1 alpha2 domains|MHC class I-like antigen recognition-like|MHC classes I/II-like antigen recognition protein ENSG00000131015.4|ENSG00000155918.3 Esophagus_Mucosa|Esophagus_Mucosa 0.3760 0.3038 0.2074 0.4192 0.2186 0.4466 0.4426 0.3985 0.3730 0.3796 0.3082 0.2494 0.4205 0.1980 0.4496 0.4288 0.4080 hom 8089.15 250 6 150342232 . G A 8089.15 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4814;MQ=50.51;MQ0=2;QD=32.36;VQSLOD=3.6012;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8088,677,0 6 150346532 150346532 T C exonic RAET1L nonsynonymous SNV RAET1L:NM_130900:exon1:c.A76G:p.R26G 0.41 0.49 0.4 0.24 0.45 0.41 0.4236 0.4830 0.3804 0.2258 0.4710 0.4438 0.4638 0.4179 0.46 0.47 0.45 0.45 0.47 rs1543547 COSM4006147 1(urinary_tract);2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.27 0.001 N 5.77 0.007 T 0.64 0.024 N 0.022 0.008 -1.095 0.048 T 0.000 0.001 T . . . -1.326 0.021 0.004 0.183 0.006 0.000 0.003 N c -1.733 -1.754 1.000 0.747 0.437 0.062 0 0.428 0.156 -1.273 0.029 -0.612 0.043 0.000 0.063 0.000 0.016 . . . ENSG00000131015.4|ENSG00000155918.3 Esophagus_Mucosa|Esophagus_Mucosa 0.4222 0.4780 0.3880 0.4218 0.2198 0.4668 0.4490 0.4357 0.4144 0.4372 0.4757 0.4211 0.4167 0.2020 0.4670 0.4347 0.4346 hom 2270.41 76 6 150346532 . T C 2270.41 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7774;MQ=58.95;MQ0=0;QD=29.87;VQSLOD=8.1462;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2303,178,0 6 151121915 151121915 G A exonic PLEKHG1 synonymous SNV PLEKHG1:NM_001329803:exon4:c.G573A:p.E191E,PLEKHG1:NM_001329798:exon6:c.G867A:p.E289E,PLEKHG1:NM_001329799:exon6:c.G810A:p.E270E,PLEKHG1:NM_001329800:exon6:c.G690A:p.E230E,PLEKHG1:NM_001329801:exon6:c.G690A:p.E230E,PLEKHG1:NM_001329802:exon6:c.G690A:p.E230E,PLEKHG1:NM_001329806:exon6:c.G690A:p.E230E,PLEKHG1:NM_001029884:exon7:c.G690A:p.E230E,PLEKHG1:NM_001329805:exon7:c.G690A:p.E230E,PLEKHG1:NM_001329804:exon8:c.G690A:p.E230E 0.65 0.8 0.52 0.8 0.48 0.56 0.5433 0.7543 0.5477 0.8352 0.5360 0.4704 0.5352 0.5521 0.57 0.75 0.47 0.66 0.53 rs2073061 COSM1179832 1(prostate);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5428 0.7576 0.5423 0.5188 0.8397 0.5427 0.4679 0.5035 0.5568 0.5807 0.7541 0.5334 0.5530 0.8517 0.5446 0.4664 0.5143 het 2199.43 173 6 151121915 . G A 2199.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.537;DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4929;MQ=58.96;MQ0=0;MQRankSum=0.925;QD=12.71;ReadPosRankSum=0.919;VQSLOD=6.4941;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,85:173:99:2229,0,2434 6 151152257 151152257 A G exonic PLEKHG1 synonymous SNV PLEKHG1:NM_001329803:exon13:c.A1893G:p.K631K,PLEKHG1:NM_001329802:exon14:c.A1971G:p.K657K,PLEKHG1:NM_001329798:exon15:c.A2187G:p.K729K,PLEKHG1:NM_001329799:exon15:c.A2130G:p.K710K,PLEKHG1:NM_001329800:exon15:c.A2010G:p.K670K,PLEKHG1:NM_001329801:exon15:c.A2010G:p.K670K,PLEKHG1:NM_001029884:exon16:c.A2010G:p.K670K 0.27 0.12 0.33 0.38 0.31 0.27 0.3172 0.1413 0.4631 0.3905 0.3578 0.3044 0.2964 0.3233 0.24 0.15 0.29 0.23 0.21 rs926624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3244 0.1397 0.4559 0.2998 0.3822 0.3592 0.2970 0.3036 0.3261 0.2684 0.1485 0.3890 0.2833 0.3588 0.3615 0.2973 0.3057 het 1373.27 90 6 151152257 . A G 1373.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.380;DP=90;Dels=0.00;FS=6.733;HRun=0;HaplotypeScore=1.8773;MQ=58.91;MQ0=0;MQRankSum=-0.275;QD=15.26;ReadPosRankSum=-0.122;VQSLOD=5.0740;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,49:90:99:1403,0,1118 6 151152656 151152656 T C exonic PLEKHG1 synonymous SNV PLEKHG1:NM_001329803:exon13:c.T2292C:p.T764T,PLEKHG1:NM_001329802:exon14:c.T2370C:p.T790T,PLEKHG1:NM_001329798:exon15:c.T2586C:p.T862T,PLEKHG1:NM_001329799:exon15:c.T2529C:p.T843T,PLEKHG1:NM_001329800:exon15:c.T2409C:p.T803T,PLEKHG1:NM_001329801:exon15:c.T2409C:p.T803T,PLEKHG1:NM_001029884:exon16:c.T2409C:p.T803T 0.64 0.61 0.72 0.54 0.71 0.64 0.7063 0.6439 0.8264 0.5327 0.7774 0.7173 0.7064 0.6793 0.69 0.65 0.72 0.64 0.66 rs803411 COSM4160285 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7118 0.6440 0.8092 0.6777 0.5250 0.7777 0.7191 0.7079 0.6809 0.7003 0.6498 0.7751 0.6433 0.5217 0.7739 0.7284 0.7051 het 2132.78 189 6 151152656 . T C 2132.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.230;DP=189;Dels=0.00;FS=0.597;HRun=3;HaplotypeScore=5.2708;MQ=59.88;MQ0=0;MQRankSum=0.628;QD=11.28;ReadPosRankSum=-2.449;VQSLOD=4.0874;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,81:189:99:2163,0,3003 6 151336739 151336739 C G exonic MTHFD1L synonymous SNV MTHFD1L:NM_001350490:exon6:c.C372G:p.S124S,MTHFD1L:NM_001242767:exon24:c.C2499G:p.S833S,MTHFD1L:NM_001242768:exon24:c.C2301G:p.S767S,MTHFD1L:NM_001350486:exon24:c.C2298G:p.S766S,MTHFD1L:NM_001350487:exon24:c.C2166G:p.S722S,MTHFD1L:NM_001350492:exon24:c.C2169G:p.S723S,MTHFD1L:NM_001350493:exon24:c.C2169G:p.S723S,MTHFD1L:NM_015440:exon24:c.C2496G:p.S832S 0.57 0.86 0.47 0.68 0.44 0.28 0.4606 0.8061 0.3224 0.6727 0.3693 0.4437 0.4526 0.3345 0.57 0.8 0.45 0.62 0.4 rs509474 COSM3761549;COSM3761550 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4492 0.8110 0.3383 0.5122 0.6744 0.3661 0.4404 0.4531 0.3350 0.5357 0.8029 0.4026 0.4767 0.6805 0.3537 0.4211 0.4469 het 1924.29 151 6 151336739 . C G 1924.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.022;DP=151;DS;Dels=0.00;FS=0.728;HRun=1;HaplotypeScore=1.5592;MQ=59.85;MQ0=0;MQRankSum=-1.677;QD=12.74;ReadPosRankSum=-0.554;VQSLOD=5.1163;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,70:151:99:1954,0,2088 6 151669875 151669875 A G exonic AKAP12 nonsynonymous SNV AKAP12:NM_144497:exon2:c.A55G:p.K19E,AKAP12:NM_005100:exon4:c.A349G:p.K117E 0.69 0.69 0.78 0.58 0.78 0.63 0.7539 0.7124 0.8333 0.6174 0.7846 0.7800 0.7771 0.6720 0.76 0.7 0.79 0.69 0.73 rs10872670 COSM4160297 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.001 0.406 N 1 0.090 P -0.46 0.027 N 3.4 0.061 T 1.19 0.012 N 0.03 0.032 -0.957 0.397 T 0.001 0.004 T . . . -1.322 0.021 0.004 0.600 0.062 0.024 0.066 N c -1.521 -1.384 0.840 0.248 0.706 0.609 0 2.8 0.317 0.442 0.212 -0.243 0.092 0.000 0.063 0.292 0.236 1.378 0.021 . . . 0.7541 0.7036 0.8276 0.8244 0.5969 0.7879 0.7753 0.7861 0.6585 0.7498 0.7071 0.7910 0.8311 0.6108 0.7845 0.7775 0.7411 hom 1300.74 43 6 151669875 . A G 1300.74 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.25;VQSLOD=13.5956;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1334,120,0 6 151670172 151670172 A C exonic AKAP12 nonsynonymous SNV AKAP12:NM_144497:exon2:c.A352C:p.K118Q,AKAP12:NM_005100:exon4:c.A646C:p.K216Q 0.54 0.36 0.63 0.46 0.76 0.59 0.6729 0.4197 0.6454 0.4821 0.7641 0.7485 0.7201 0.6050 0.65 0.43 0.76 0.56 0.55 rs3734799 COSM4415688 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.559 0.113 N 1 0.090 P -1.445 0.006 N 3.17 0.076 T 0.37 0.036 N 0.033 0.017 -0.922 0.453 T 0.002 0.006 T . . . -0.581 0.051 0.139 0.533 0.048 0.117 0.166 N c -1.068 -0.835 0.970 0.291 0.706 0.609 0 4.49 0.540 0.938 0.284 0.067 0.174 0.679 0.282 0.023 0.138 8.281 0.309 . . . 0.6766 0.4117 0.6466 0.7144 0.4646 0.7663 0.7503 0.7174 0.6090 0.6468 0.4301 0.6763 0.7252 0.4856 0.7639 0.7563 0.6922 hom 4392.56 132 6 151670172 . A C 4392.56 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5774;MQ=59.86;MQ0=0;QD=33.28;VQSLOD=9.7590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4392,340,0 6 151670897 151670897 T C exonic AKAP12 synonymous SNV AKAP12:NM_144497:exon2:c.T1077C:p.A359A,AKAP12:NM_005100:exon4:c.T1371C:p.A457A 0.71 0.77 0.78 0.59 0.78 0.64 0.7525 0.7814 0.7966 0.6135 0.7827 0.7761 0.7737 0.6670 0.78 0.78 0.79 0.69 0.79 rs900654 COSM4409071 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7560 0.7801 0.7985 0.7979 0.6034 0.7871 0.7754 0.7832 0.6718 0.7711 0.7836 0.8098 0.8046 0.6150 0.7850 0.7762 0.7444 hom 4690.45 146 6 151670897 . T C 4690.45 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2651;MQ=59.11;MQ0=0;QD=32.13;VQSLOD=9.5044;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4689,397,0 6 151674116 151674116 - GAG exonic AKAP12 nonframeshift insertion AKAP12:NM_144497:exon2:c.4296_4297insGAG:p.E1433_D1434insE,AKAP12:NM_005100:exon4:c.4590_4591insGAG:p.E1531_D1532insE 0.7 0.75 0.77 0.59 0.78 0.64 0.7507 0.7649 0.7980 0.6114 0.7825 0.7759 0.7720 0.6663 0.78 0.77 0.79 . . rs3842128 COSM3724396 20(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7548 0.7657 0.7992 0.7978 0.6022 0.7869 0.7751 0.7819 0.6710 0.7660 0.7686 0.8068 0.81 0.6096 0.7842 0.7755 0.7428 hom 14905.48 247 6 151674116 . T TGAG 14905.48 Mask AC=2;AF=1.00;AN=2;DP=247;DS;FS=0.000;HRun=0;HaplotypeScore=655.4344;MQ=55.09;MQ0=0;QD=60.35;set=variant2 GT:AD:DP:GQ:PL 1/1:28,214:247:99:14905,683,0 6 151674326 151674326 A C exonic AKAP12 nonsynonymous SNV AKAP12:NM_144497:exon2:c.A4506C:p.E1502D,AKAP12:NM_005100:exon4:c.A4800C:p.E1600D 0.44 0.22 0.55 0.44 0.67 0.43 0.5798 0.3043 0.5896 0.4532 0.6921 0.6621 0.6067 0.4311 0.55 0.33 0.67 0.48 0.66 rs3823310 COSM4160299 2(liver);1(skin);1(thyroid) . . . . . . . . . . . 0.502 0.078 T 0.003 0.102 B 0.006 0.112 B 0.045 0.236 N 1 0.090 P 0.755 0.192 N 3.18 0.075 T -1.17 0.299 N 0.022 0.014 -0.940 0.427 T 0.002 0.008 T . . . -0.841 0.038 0.035 0.525 0.047 0.149 0.185 N c -1.347 -1.397 1.000 0.443 0.646 0.442 0 -4.35 0.034 -0.299 0.082 -0.299 0.081 0.000 0.063 0.000 0.016 2.002 0.032 . . . 0.5860 0.2952 0.5934 0.6230 0.4379 0.6916 0.6627 0.6163 0.4343 0.5563 0.3077 0.6241 0.6457 0.4460 0.6920 0.6722 0.6074 hom 2560.94 73 6 151674326 . A C 2560.94 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=59.43;MQ0=0;QD=35.08;VQSLOD=9.7814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2594,205,0 6 151686905 151686905 C T exonic ZBTB2 synonymous SNV ZBTB2:NM_020861:exon3:c.G1296A:p.E432E 0.42 0.35 0.54 0.28 0.64 0.37 0.5488 0.3899 0.5827 0.2893 0.6742 0.6304 0.5584 0.3809 0.55 0.39 0.64 0.45 0.62 rs11155787 COSM4003737 2(haematopoietic_and_lymphoid_tissue);2(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5554 0.3889 0.5832 0.5928 0.2823 0.6753 0.6307 0.5811 0.3840 0.5517 0.3917 0.6169 0.5993 0.2828 0.6703 0.6409 0.5603 hom 3863.54 116 6 151686905 . C T 3863.54 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6912;MQ=59.68;MQ0=0;QD=33.31;VQSLOD=9.5107;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:116:99:3863,298,0 6 151859314 151859314 A G exonic CCDC170 synonymous SNV CCDC170:NM_025059:exon3:c.A321G:p.E107E 0.6 0.28 0.75 0.71 0.72 0.68 0.6865 0.3308 0.8069 0.7144 0.7849 0.7078 0.6978 0.6727 0.59 0.35 0.69 0.62 0.61 rs4870034 COSM4408830 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6937 0.3305 0.7934 0.6513 0.7138 0.7815 0.7022 0.7014 0.6717 0.6115 0.3404 0.7494 0.6722 0.6876 0.7765 0.7070 0.7198 het 924.23 90 6 151859314 . A G 924.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.505;DP=90;Dels=0.00;FS=0.803;HRun=0;HaplotypeScore=0.8667;MQ=58.70;MQ0=0;MQRankSum=1.450;QD=10.27;ReadPosRankSum=-0.560;VQSLOD=6.1779;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,38:90:99:954,0,1266 6 151894505 151894505 T C exonic CCDC170 nonsynonymous SNV CCDC170:NM_025059:exon6:c.T971C:p.F324S 0.94 0.99 0.94 1. 0.88 0.89 0.9073 0.9809 0.9463 0.9957 0.8975 0.8854 0.8920 0.8834 0.91 0.98 0.88 0.97 0.85 rs953767 COSM4407030 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.590 0.056 N 1 0.090 P -1.445 0.006 N 3.25 0.068 T 2.77 0.002 N 0.034 0.016 -0.926 0.447 T 0.002 0.006 T . . . 0.403 0.133 6.644 0.326 0.019 0.006 0.027 N c -1.210 -1.070 0.001 0.085 0.487 0.133 0 2.45 0.288 -0.023 0.123 -0.446 0.057 0.000 0.063 0.860 0.359 1.629 0.025 . ENSG00000120262.8 Adipose_Subcutaneous 0.9063 0.9825 0.9418 0.8579 0.9946 0.8992 0.8843 0.8931 0.8832 0.9157 0.9807 0.9368 0.8344 0.9938 0.8993 0.8751 0.8957 het 1421.19 111 6 151894505 . T C 1421.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.792;DP=111;Dels=0.00;FS=1.534;HRun=1;HaplotypeScore=5.0335;MQ=58.86;MQ0=0;MQRankSum=1.914;QD=12.80;ReadPosRankSum=-0.799;VQSLOD=5.1944;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,55:111:99:1451,0,1473 6 151914265 151914265 T C exonic CCDC170 synonymous SNV CCDC170:NM_025059:exon8:c.T1317C:p.L439L 0.096 0.16 0.045 0.079 0.053 0.11 0.0784 0.1599 0.0291 0.0875 0.0970 0.0649 0.0789 0.1067 0.098 0.16 0.07 0.098 0.13 rs17081470 COSM3761552 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0770 0.1634 0.0310 0.0951 0.0872 0.0986 0.0641 0.0680 0.1060 0.0996 0.1615 0.0549 0.0795 0.0809 0.0985 0.0702 0.0804 hom 4232.30 140 6 151914265 . T C 4232.30 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.40;MQ0=0;QD=30.23;VQSLOD=9.2337;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4232,322,0 6 151939181 151939181 G A exonic CCDC170 nonsynonymous SNV CCDC170:NM_025059:exon11:c.G2047A:p.V683I 0.53 0.76 0.38 0.43 0.5 0.47 0.4982 0.7455 0.2824 0.4190 0.4540 0.5118 0.5189 0.5050 0.61 0.76 0.53 0.58 0.54 rs3734804 COSM5001975 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.001 0.413 N 1 0.090 P -1.75 0.003 N 3.56 0.047 T 0.5 0.030 N 0.043 0.023 -0.948 0.413 T 0.001 0.003 T . . . 0.612 0.152 8.242 0.641 0.072 0.166 0.193 N c -1.041 -0.734 0.016 0.128 0.516 0.203 0 3.55 0.396 1.568 0.358 -0.650 0.041 1.000 0.715 0.985 0.512 7.425 0.261 . . . 0.4874 0.7509 0.2965 0.5625 0.4179 0.4596 0.5133 0.4982 0.5039 0.5616 0.7570 0.3473 0.5629 0.4218 0.4516 0.5053 0.4908 hom 4172.21 132 6 151939181 . G A 4172.21 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3123;MQ=59.40;MQ0=0;QD=31.61;VQSLOD=9.3192;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4172,346,0 6 152201875 152201875 T C exonic ESR1 synonymous SNV ESR1:NM_000125:exon3:c.T729C:p.R243R,ESR1:NM_001328100:exon3:c.T210C:p.R70R,ESR1:NM_001122740:exon4:c.T729C:p.R243R,ESR1:NM_001122741:exon4:c.T729C:p.R243R,ESR1:NM_001291230:exon4:c.T735C:p.R245R,ESR1:NM_001291241:exon4:c.T729C:p.R243R,ESR1:NM_001122742:exon5:c.T729C:p.R243R 0.99 1. 0.96 1. 0.97 0.99 0.9707 0.9940 0.9779 0.9997 0.9570 0.9608 0.9659 0.9813 0.97 0.99 0.96 0.99 0.95 rs4986934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9699 0.9941 0.9775 0.9406 0.9998 0.9591 0.9617 0.9699 0.9798 0.9679 0.9929 0.9845 0.9437 1 0.9562 0.9525 0.9633 hom 2073.96 62 6 152201875 . T C 2073.96 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4518;MQ=58.61;MQ0=0;QD=33.45;VQSLOD=8.4970;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,61:62:99:2107,166,0 6 152265522 152265522 G C exonic ESR1 synonymous SNV ESR1:NM_000125:exon4:c.G975C:p.P325P,ESR1:NM_001328100:exon4:c.G456C:p.P152P,ESR1:NM_001122740:exon5:c.G975C:p.P325P,ESR1:NM_001122741:exon5:c.G975C:p.P325P,ESR1:NM_001291230:exon5:c.G981C:p.P327P,ESR1:NM_001291241:exon5:c.G972C:p.P324P,ESR1:NM_001122742:exon6:c.G975C:p.P325P 0.72 0.93 0.73 0.5 0.79 0.57 0.7362 0.9018 0.6912 0.5101 0.7431 0.7794 0.7258 0.6045 0.81 0.89 0.77 0.74 0.84 rs1801132 COSM4003740;COSM4003741 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7303 0.9013 0.6917 0.7948 0.5116 0.7354 0.7785 0.7552 0.6063 0.7877 0.8925 0.7124 0.7781 0.4950 0.7264 0.7793 0.7505 hom 5129.23 153 6 152265522 . G C 5129.23 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=4.5240;MQ=59.45;MQ0=0;QD=33.52;VQSLOD=7.5658;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5129,400,0 6 152420095 152420095 G A exonic ESR1 synonymous SNV ESR1:NM_000125:exon8:c.G1782A:p.T594T,ESR1:NM_001122740:exon9:c.G1782A:p.T594T,ESR1:NM_001122741:exon9:c.G1782A:p.T594T,ESR1:NM_001291230:exon9:c.G1788A:p.T596T,ESR1:NM_001291241:exon9:c.G1779A:p.T593T,ESR1:NM_001122742:exon10:c.G1782A:p.T594T 0.19 0.15 0.24 0.2 0.17 0.21 0.1893 0.1574 0.2727 0.2116 0.1913 0.1754 0.1686 0.1959 0.17 0.16 0.18 0.17 0.2 rs2228480 COSM3761556 10(soft_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1938 0.1535 0.2722 0.1342 0.2193 0.1830 0.1806 0.1727 0.1929 0.1801 0.1520 0.2644 0.1291 0.2202 0.1969 0.1846 0.1786 het 884.63 55 6 152420095 . G A 884.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.411;DP=55;Dels=0.00;FS=1.426;HRun=0;HaplotypeScore=0.9832;MQ=59.16;MQ0=0;MQRankSum=0.769;QD=16.08;ReadPosRankSum=-1.564;VQSLOD=6.0585;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,30:55:99:915,0,720 6 152464839 152464839 A G exonic SYNE1 synonymous SNV SYNE1:NM_001347702:exon10:c.T1572C:p.R524R,SYNE1:NM_001347701:exon11:c.T1644C:p.R548R,SYNE1:NM_033071:exon138:c.T24894C:p.R8298R,SYNE1:NM_182961:exon138:c.T25038C:p.R8346R 0.69 0.78 0.71 0.69 0.54 0.7 0.6109 0.7573 0.7291 0.7003 0.4930 0.5481 0.6068 0.6901 0.62 0.75 0.56 0.66 0.56 rs2256135 COSM4407099;COSM4407100;COSM4407103;COSM4407102;COSM4407101 1(haematopoietic_and_lymphoid_tissue);2(liver) other|Benign|Benign not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy RCV000118470.4|RCV000313035.1|RCV000367836.1 MedGen:Orphanet:SNOMED_CT C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6099 0.7578 0.7171 0.5684 0.6932 0.4852 0.5516 0.5855 0.6921 0.6144 0.7548 0.7069 0.5927 0.6994 0.4963 0.5468 0.6071 hom 6011.01 178 6 152464839 . A G 6011.01 Mask AC=2;AF=1.00;AN=2;DP=178;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6133;MQ=58.97;MQ0=0;QD=33.77;VQSLOD=8.6923;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:6010,472,0 6 152466674 152466674 T C exonic SYNE1 synonymous SNV SYNE1:NM_001347702:exon9:c.A1458G:p.E486E,SYNE1:NM_033071:exon137:c.A24780G:p.E8260E 0.37 0.34 0.51 0.3 0.33 0.41 0.3452 0.3402 0.5190 0.2955 0.2272 0.3171 0.3612 0.4119 0.34 0.35 0.33 0.28 0.31 rs2747662 COSM3761563;COSM3761562 1(haematopoietic_and_lymphoid_tissue);1(liver);4(large_intestine) Benign|Benign|Benign not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy RCV000118469.3|RCV000277927.1|RCV000333086.1 MedGen:Orphanet:SNOMED_CT C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3517 0.3419 0.5053 0.3992 0.3009 0.2171 0.3201 0.3610 0.4126 0.3146 0.3364 0.4928 0.4139 0.2984 0.2218 0.3112 0.3484 hom 1868.77 61 6 152466674 . T C 1868.77 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=30.64;VQSLOD=9.5572;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1902,144,0 6 152469188 152469188 C G exonic SYNE1 nonsynonymous SNV SYNE1:NM_001347702:exon8:c.G1433C:p.G478A,SYNE1:NM_001347701:exon10:c.G1574C:p.G525A,SYNE1:NM_033071:exon136:c.G24755C:p.G8252A,SYNE1:NM_182961:exon137:c.G24968C:p.G8323A 0.4 0.46 0.51 0.3 0.33 0.41 0.3592 0.4441 0.5248 0.2989 0.2275 0.3230 0.3711 0.4191 0.37 0.44 0.34 0.27 0.33 rs2252755 COSM4407131;COSM4407132;COSM4407133;COSM4407129;COSM4407130 1(haematopoietic_and_lymphoid_tissue);1(liver);4(large_intestine) other|Benign|Benign not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy RCV000118468.3|RCV000259202.1|RCV000355142.1 MedGen:Orphanet:SNOMED_CT C0410189:ORPHA261:111508004 . . . . . . 1.0 0.010 T 0.696 0.398 P 0.338 0.405 B 0.001 0.408 D 0.810 0.311 P 0.58 0.154 N 0.85 0.471 T -0.59 0.334 N 0.165 0.199 -1.079 0.075 T 0.051 0.218 T . . . 0.755 0.166 9.179 0.226 0.009 0.941 0.598 D c -0.207 -0.060 1.000 0.747 0.563 0.310 0 5.34 0.759 3.438 0.524 0.935 0.490 0.980 0.350 1.000 0.888 19.033 0.929 . . . 0.3635 0.4442 0.5123 0.4127 0.3024 0.2188 0.3248 0.3680 0.4205 0.3490 0.4444 0.5036 0.4272 0.3043 0.2255 0.3163 0.3582 hom 2724.99 78 6 152469188 . C G 2724.99 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=34.94;VQSLOD=9.6200;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2758,214,0 6 152469331 152469331 C T exonic SYNE1 synonymous SNV SYNE1:NM_001347702:exon8:c.G1290A:p.P430P,SYNE1:NM_001347701:exon10:c.G1431A:p.P477P,SYNE1:NM_033071:exon136:c.G24612A:p.P8204P,SYNE1:NM_182961:exon137:c.G24825A:p.P8275P 0.34 0.31 0.46 0.3 0.28 0.4 0.3130 0.3071 0.4892 0.2942 0.1824 0.2768 0.3223 0.4011 0.3 0.31 0.29 0.25 0.26 rs2252748 COSM3761565;COSM3761567;COSM3761564;COSM3761566;COSM3761568 1(liver);5(large_intestine);1(biliary_tract) other|Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia RCV000118467.3|RCV000345658.1|RCV000381473.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3194 0.3093 0.4752 0.3390 0.3008 0.1768 0.2810 0.3178 0.4012 0.2826 0.3034 0.4450 0.3533 0.3041 0.1874 0.2778 0.3149 hom 2760.57 81 6 152469331 . C T 2760.57 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.72;MQ0=0;QD=34.08;VQSLOD=9.0236;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2794,220,0 6 152489294 152489294 T C exonic SYNE1 nonsynonymous SNV SYNE1:NM_001347702:exon1:c.A46G:p.S16G 0.87 0.95 0.85 0.89 0.77 0.85 0.8278 0.9319 0.8402 0.8768 0.7382 0.8046 0.8292 0.8620 0.86 0.93 0.82 0.87 0.81 rs998147 COSN15656248 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.75 0.044 T . . . . . . . . . 1.000 0.588 P . . . 4.66 0.018 T -1.9 0.446 N 0.023 0.006 -0.952 0.406 T 0.001 0.004 T . . . 2.090 0.312 16.79 0.393 0.027 0.026 0.071 N c -0.552 -0.569 1.000 0.458 0.487 0.133 0 2.24 0.271 -1.308 0.028 -0.302 0.080 0.004 0.165 0.979 0.486 6.798 0.228 . . . 0.8271 0.9369 0.8448 0.7782 0.8779 0.7359 0.8090 0.8154 0.8628 0.8364 0.9369 0.8361 0.7833 0.8813 0.7483 0.7964 0.8101 hom 2191.16 76 6 152489294 . T C 2191.16 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2755;MQ=57.71;MQ0=0;QD=28.83;VQSLOD=6.6306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2224,198,0 6 152529260 152529260 G A exonic SYNE1 synonymous SNV SYNE1:NM_033071:exon124:c.C22458T:p.I7486I,SYNE1:NM_182961:exon125:c.C22671T:p.I7557I 0.16 0.11 0.24 0.21 0.13 0.13 0.1437 0.1175 0.2089 0.2283 0.0878 0.1315 0.1421 0.1419 0.13 0.12 0.13 0.098 0.19 rs3798756 . . other|Benign|Benign not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy RCV000118463.5|RCV000287912.1|RCV000345235.1 MedGen:Orphanet:SNOMED_CT C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1449 0.1184 0.2012 0.1380 0.2208 0.0854 0.1321 0.1474 0.1456 0.1236 0.1189 0.1981 0.13 0.2162 0.0860 0.1210 0.1217 het 853.55 87 6 152529260 . G A 853.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.819;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.7884;MQ=58.87;MQ0=0;MQRankSum=-0.381;QD=9.81;ReadPosRankSum=-0.306;VQSLOD=4.4593;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,36:87:99:884,0,1336 6 152540278 152540278 A C exonic SYNE1 nonsynonymous SNV SYNE1:NM_033071:exon119:c.T21691G:p.F7231V,SYNE1:NM_182961:exon120:c.T21904G:p.F7302V 1. 1. 0.99 1. 0.99 1. 0.9923 0.9981 0.9946 1 0.9891 0.9886 0.9945 0.9988 0.99 1. 0.99 1. 0.98 rs2147377 . . other|Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia RCV000118459.5|RCV000269574.1|RCV000361971.1 . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.357 N 1.000 0.189 P -2.32 0.001 N 0.82 0.481 T 2.18 0.003 N 0.03 0.103 -0.974 0.363 T 0.009 0.033 T . . . -0.224 0.074 0.977 0.209 0.008 0.300 0.238 N c -1.085 -0.867 0.531 0.212 0.638 0.428 0 3.99 0.454 1.389 0.338 -0.398 0.063 0.942 0.325 0.127 0.198 5.983 0.185 . . . 0.9918 0.9979 0.9944 0.9934 1 0.9878 0.9878 0.9914 0.9985 0.9922 0.9984 0.9905 0.9868 1 0.9877 0.9892 0.9878 hom 4395.17 137 6 152540278 . A C 4395.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.707;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=59.05;MQ0=0;MQRankSum=1.707;QD=32.08;ReadPosRankSum=1.530;VQSLOD=9.0624;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,136:137:99:4395,337,0 6 152647681 152647681 A T exonic SYNE1 nonsynonymous SNV SYNE1:NM_033071:exon78:c.T14830A:p.L4944M,SYNE1:NM_182961:exon79:c.T15043A:p.L5015M 0.81 0.95 0.84 0.85 0.75 0.64 0.7797 0.9316 0.8756 0.8384 0.8531 0.7581 0.7753 0.6443 0.81 0.93 0.75 0.84 0.74 rs2306916 COSM5010197;COSM5010194;COSM5010195;COSM5010198;COSM5010196 1(large_intestine) other|Benign|Benign not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy RCV000118448.4|RCV000296846.1|RCV000335569.1 MedGen:Orphanet:SNOMED_CT C0410189:ORPHA261:111508004 . . . . . . 0.607 0.055 T 0.009 0.158 B 0.009 0.179 B 0.009 0.306 N 1 0.090 P -0.165 0.043 N 1.24 0.367 T -0.07 0.087 N 0.051 0.062 -0.977 0.358 T 0.012 0.045 T . . . 1.978 0.299 16.07 0.785 0.119 0.734 0.356 D c -0.646 -0.403 0.001 0.081 0.554 0.283 0 3.2 0.357 2.928 0.484 0.088 0.194 1.000 0.715 0.996 0.625 6.207 0.197 . . . 0.7825 0.9362 0.8716 0.7130 0.8406 0.8501 0.7562 0.7694 0.6471 0.8331 0.9341 0.8592 0.6887 0.8358 0.8481 0.7754 0.7802 hom 2347.19 79 6 152647681 . A T 2347.19 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9559;MQ=59.18;MQ0=0;QD=29.71;VQSLOD=8.8142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2380,184,0 6 152650903 152650903 G A exonic SYNE1 synonymous SNV SYNE1:NM_033071:exon77:c.C14704T:p.L4902L,SYNE1:NM_182961:exon78:c.C14917T:p.L4973L 0.034 0.033 0.025 0.02 0.037 0.052 0.0342 0.0289 0.0126 0.0227 0.0186 0.0386 0.0330 0.0474 0.039 0.031 0.044 0.022 0.025 rs35085679 . . other|Likely benign|Likely benign not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia RCV000118447.4|RCV000314875.1|RCV000405883.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0331 0.0295 0.0152 0.0432 0.0231 0.0146 0.0396 0.0317 0.0467 0.0310 0.0274 0.0191 0.0497 0.0247 0.0135 0.0382 0.0296 het 2754.71 193 6 152650903 . G A 2754.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.429;DP=193;Dels=0.00;FS=2.408;HRun=1;HaplotypeScore=6.9618;MQ=59.25;MQ0=0;MQRankSum=1.943;QD=14.27;ReadPosRankSum=0.118;VQSLOD=3.7424;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,101:193:99:2785,0,2669 6 152652034 152652034 A T exonic SYNE1 nonsynonymous SNV SYNE1:NM_033071:exon77:c.T13573A:p.S4525T,SYNE1:NM_182961:exon78:c.T13786A:p.S4596T 0.8 0.91 0.84 0.86 0.75 0.64 0.7760 0.8869 0.8730 0.8461 0.8531 0.7577 0.7731 0.6448 0.8 0.89 0.75 0.83 0.73 rs6911096 COSM5010199;COSM450728;COSM1487365;COSM450729;COSM5010200 1(large_intestine) other|Benign|Benign not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy RCV000118444.3|RCV000290438.1|RCV000387036.1 MedGen:Orphanet:SNOMED_CT C0410189:ORPHA261:111508004 . . . . . . 0.568 0.062 T 0.0 0.026 B 0.001 0.040 B 0.130 0.028 N 1 0.090 P 0.025 0.080 N 1.35 0.346 T -0.22 0.105 N 0.005 0.001 -1.024 0.224 T 0.008 0.028 T . . . -5.477 0.000 0.001 0.200 0.007 0.021 0.061 N c -2.793 -2.870 1.0 0.983 0.554 0.283 0 -11.9 0.000 -2.486 0.010 -3.450 0.001 0.000 0.063 0.002 0.062 2.429 0.042 . . . 0.7798 0.8914 0.8691 0.7118 0.8473 0.8501 0.7561 0.7672 0.6479 0.8219 0.8947 0.8568 0.6887 0.8465 0.8479 0.7745 0.7760 hom 7071.84 243 6 152652034 . A T 7071.84 Mask AC=2;AF=1.00;AN=2;DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5700;MQ=58.75;MQ0=0;QD=29.10;VQSLOD=8.3781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,243:243:99:7071,572,0 6 152652599 152652599 G A exonic SYNE1 synonymous SNV SYNE1:NM_033071:exon77:c.C13008T:p.D4336D,SYNE1:NM_182961:exon78:c.C13221T:p.D4407D 0.034 0.033 0.025 0.02 0.037 0.051 0.0343 0.0289 0.0128 0.0227 0.0186 0.0388 0.0332 0.0468 0.039 0.031 0.044 0.022 0.016 rs10499268 COSM5419952;COSM5419955;COSM5419954;COSM5419951;COSM5419953 1(pancreas);1(large_intestine) other|Likely benign|Likely benign not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia RCV000118443.4|RCV000286813.1|RCV000378906.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0332 0.0295 0.0153 0.0447 0.0230 0.0146 0.0397 0.0319 0.0463 0.0312 0.0275 0.0191 0.0530 0.0240 0.0137 0.0385 0.0295 het 1189.88 92 6 152652599 . G A 1189.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.391;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=0.765;QD=12.93;ReadPosRankSum=-0.039;VQSLOD=7.0584;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,47:92:99:1220,0,1245 6 152658141 152658141 C A exonic SYNE1 nonsynonymous SNV SYNE1:NM_033071:exon75:c.G12150T:p.K4050N,SYNE1:NM_182961:exon76:c.G12363T:p.K4121N 0.088 0.075 0.062 0.12 0.07 0.11 0.0762 0.0593 0.0594 0.1126 0.0536 0.0738 0.0690 0.0988 . . . . 0.041 rs28385621 COSM4596015;COSM4596016;COSM4596013;COSM4596017;COSM4596014 5(upper_aerodigestive_tract) other|Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia RCV000118440.4|RCV000321481.1|RCV000376127.1 . . . . . . . . 0.002 0.721 D 0.014 0.231 B 0.007 0.230 B 0.011 0.297 N 1.000 0.195 P 0.345 0.112 N 1.37 0.342 T -0.8 0.242 N 0.085 0.080 -1.091 0.054 T 0.028 0.121 T . . . 2.991 0.420 22.2 0.931 0.222 0.982 0.805 D c -0.389 -0.256 0.374 0.199 0.554 0.283 0 3.69 0.413 1.144 0.310 0.932 0.445 1.000 0.715 0.949 0.424 11.386 0.488 . . . 0.0746 0.0579 0.0644 0.0649 0.1106 0.0475 0.0749 0.0717 0.0958 0.0641 0.0545 0.0632 0.0728 0.1080 0.0453 0.0693 0.0622 het 582.01 58 6 152658141 . C A 582.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.227;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=0.286;QD=10.03;ReadPosRankSum=0.223;VQSLOD=6.3563;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,23:58:99:612,0,899 6 152658142 152658142 T C exonic SYNE1 nonsynonymous SNV SYNE1:NM_033071:exon75:c.A12149G:p.K4050R,SYNE1:NM_182961:exon76:c.A12362G:p.K4121R 0.79 0.96 0.71 0.86 0.74 0.61 0.7547 0.9281 0.7058 0.8544 0.8368 0.7478 0.7673 0.6211 0.79 0.92 0.72 0.73 0.7 rs9479297 COSM5010203;COSM5010202;COSM5010201;COSM5010204;COSM5010205 1(large_intestine) other|Benign|Benign not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy RCV000118439.5|RCV000267635.1|RCV000317782.1 MedGen:Orphanet:SNOMED_CT C0410189:ORPHA261:111508004 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.011 0.297 N 1 0.090 P -1.81 0.003 N 1.37 0.342 T 1.08 0.014 N 0.025 0.011 -0.969 0.375 T 0.009 0.034 T . . . 0.371 0.130 6.360 0.804 0.127 0.179 0.198 N c -0.835 -0.578 0.066 0.154 0.554 0.283 0 4.48 0.538 1.496 0.350 0.067 0.174 1.000 0.715 0.964 0.448 9.174 0.361 . . . 0.7493 0.9330 0.6978 0.6986 0.8558 0.8360 0.7459 0.7448 0.6213 0.8208 0.9307 0.7081 0.6788 0.8488 0.8345 0.7642 0.7515 hom 1786.99 55 6 152658142 . T C 1786.99 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;QD=32.49;VQSLOD=9.5581;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1820,141,0 6 152665261 152665261 C A exonic SYNE1 nonsynonymous SNV SYNE1:NM_033071:exon73:c.G11967T:p.E3989D,SYNE1:NM_182961:exon74:c.G12180T:p.E4060D 0.55 0.41 0.62 0.65 0.6 0.51 0.5761 0.4471 0.5970 0.6419 0.5452 0.6031 0.5771 0.5118 0.57 0.47 0.62 0.52 0.62 rs4645434 COSM3748319;COSM1441465;COSM3748318;COSM136573;COSM42924 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(skin);2(large_intestine);1(central_nervous_system) other|Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia RCV000118437.4|RCV000307999.1|RCV000393801.1 . . . . . . . . 0.071 0.351 T 0.203 0.281 B 0.031 0.244 B 0.001 0.392 N 1.000 0.182 P 0.345 0.112 N 1.33 0.350 T -1.02 0.289 N 0.007 0.001 -0.976 0.360 T 0.015 0.062 T . . . 0.235 0.117 5.046 0.149 0.003 0.885 0.482 D c -1.142 -1.085 0.000 0.052 0.554 0.246 0 -1.25 0.089 0.394 0.204 -0.863 0.028 0.995 0.385 0.019 0.132 10.963 0.464 . . . 0.5829 0.4410 0.6001 0.6528 0.6416 0.5473 0.6078 0.5857 0.5142 0.5601 0.4517 0.6160 0.66 0.6582 0.5561 0.6094 0.5418 hom 4141.24 132 6 152665261 . C A 4141.24 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.54;MQ0=0;QD=31.37;VQSLOD=9.5462;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:132:99:4141,343,0 6 152675854 152675854 A G exonic SYNE1 synonymous SNV SYNE1:NM_182961:exon67:c.T10866C:p.S3622S 0.57 0.51 0.62 0.62 0.6 0.52 0.5799 0.5140 0.6004 0.6100 0.5452 0.6001 0.5804 0.5237 0.58 0.52 0.61 0.54 0.67 rs9397102 COSM5009652;COSM5009654;COSM5009656;COSM5009653;COSM5009655 2(large_intestine) other|Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia RCV000118433.4|RCV000269796.1|RCV000364406.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5855 0.5125 0.6022 0.6465 0.6110 0.5476 0.6049 0.5879 0.5260 0.5777 0.5229 0.6169 0.6567 0.6256 0.5568 0.6074 0.5460 hom 7381.82 232 6 152675854 . A G 7381.82 Mask AC=2;AF=1.00;AN=2;DP=232;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.8226;MQ=59.27;MQ0=0;QD=31.82;VQSLOD=7.8090;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,232:232:99:7381,569,0 6 152683413 152683413 G T exonic SYNE1 synonymous SNV SYNE1:NM_033071:exon64:c.C10212A:p.G3404G,SYNE1:NM_182961:exon64:c.C10191A:p.G3397G 0.66 0.58 0.69 0.79 0.68 0.59 0.6541 0.5801 0.6690 0.7889 0.6039 0.6652 0.6630 0.5944 0.65 0.58 0.68 0.66 0.76 rs4407724 COSM5009659;COSM5009658;COSM5009660;COSM5009657 1(skin);2(large_intestine) other|Benign|Benign not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy RCV000118428.4|RCV000273784.1|RCV000375408.1 MedGen:Orphanet:SNOMED_CT C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6587 0.5756 0.6700 0.7085 0.7899 0.6059 0.6701 0.6538 0.5962 0.6496 0.5876 0.6746 0.7384 0.7752 0.6216 0.6773 0.6214 hom 4486.53 150 6 152683413 . G T 4486.53 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6971;MQ=59.63;MQ0=0;QD=29.91;VQSLOD=8.6117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4486,349,0 6 152694184 152694184 T C exonic SYNE1 synonymous SNV SYNE1:NM_033071:exon59:c.A9516G:p.E3172E,SYNE1:NM_182961:exon59:c.A9495G:p.E3165E 0.47 0.44 0.54 0.46 0.53 0.41 0.4993 0.4785 0.4934 0.4402 0.4887 0.5328 0.4857 0.4172 0.53 0.5 0.55 0.45 0.6 rs6913579 COSM5009664;COSM5009661;COSM5009662;COSM5009665;COSM5009663 1(breast);2(large_intestine) other|Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia RCV000118493.5|RCV000271232.1|RCV000328747.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5031 0.4766 0.4951 0.5536 0.4429 0.4899 0.5394 0.5011 0.4209 0.5133 0.4821 0.5276 0.5298 0.4532 0.5040 0.5421 0.4643 hom 7624.70 250 6 152694184 . T C 7624.70 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4942;MQ=59.41;MQ0=0;QD=30.50;VQSLOD=8.7441;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7624,578,0 6 152772264 152772264 A G exonic SYNE1 nonsynonymous SNV SYNE1:NM_033071:exon26:c.T3125C:p.V1042A,SYNE1:NM_182961:exon26:c.T3104C:p.V1035A 0.61 0.81 0.37 0.75 0.45 0.52 0.4811 0.7486 0.3196 0.7569 0.4079 0.4291 0.5066 0.5196 0.53 0.73 0.43 0.67 0.46 rs214976 COSM5002074;COSM5002071;COSM5002075;COSM5002072;COSM5002073 1(pancreas);1(large_intestine) other|Benign|Benign not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy RCV000118478.4|RCV000283687.1|RCV000340993.1 MedGen:Orphanet:SNOMED_CT C0410189:ORPHA261:111508004 . . . . . . 0.006 0.614 D 0.033 0.349 B 0.045 0.333 B 0.325 0.142 N 0.499 0.317 P 1.905 0.510 L 0.55 0.888 T -2.35 0.555 N 0.159 0.334 0.108 0.843 D 0.536 0.828 D . . . 3.767 0.510 23.4 0.997 0.804 0.987 0.852 D c 0.132 0.230 1.000 0.517 0.487 0.133 0 5.84 0.934 8.636 0.907 1.192 0.910 0.986 0.359 0.998 0.697 16.560 0.843 . . . 0.4674 0.7529 0.3251 0.4872 0.7634 0.3989 0.4232 0.4484 0.5217 0.5270 0.7437 0.3565 0.5302 0.7779 0.3912 0.4198 0.4491 het 2072.42 153 6 152772264 . A G 2072.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.866;DP=153;Dels=0.00;FS=0.650;HRun=0;HaplotypeScore=2.1992;MQ=59.52;MQ0=0;MQRankSum=0.403;QD=13.55;ReadPosRankSum=-0.272;VQSLOD=6.8079;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,74:153:99:2102,0,2020 6 153043035 153043035 G A exonic MYCT1 nonsynonymous SNV MYCT1:NM_025107:exon2:c.G355A:p.G119S 0.11 0.0098 0.24 0.089 0.16 0.12 0.1432 0.0332 0.2443 0.0953 0.1157 0.1580 0.1233 0.1188 0.12 0.042 0.17 0.065 0.17 rs17710008 COSM4999288 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.664 0.046 T 0.341 0.317 B 0.029 0.203 B 0.037 0.245 N 0.973 0.588 P 0.75 0.191 N 1.59 0.288 T -0.14 0.092 N 0.34 0.401 -1.006 0.282 T 0.013 0.048 T . . . 3.976 0.535 23.6 0.975 0.339 0.376 0.256 N c -0.450 -0.296 0.954 0.281 0.646 0.442 0 3.77 0.423 0.842 0.271 0.891 0.395 0.564 0.272 0.961 0.442 8.143 0.301 . . . 0.1497 0.0287 0.2487 0.0779 0.0922 0.1189 0.1667 0.1518 0.1178 0.1186 0.0366 0.2375 0.0828 0.0824 0.1214 0.1630 0.1281 het 3015.62 232 6 153043035 . G A 3015.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.592;DP=232;Dels=0.00;FS=1.641;HRun=0;HaplotypeScore=4.7845;MQ=59.30;MQ0=0;MQRankSum=0.711;QD=13.00;ReadPosRankSum=-0.283;VQSLOD=5.8412;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,108:232:99:3046,0,3200 6 153296370 153296370 G A exonic FBXO5 nonsynonymous SNV FBXO5:NM_001142522:exon2:c.C352T:p.L118F,FBXO5:NM_012177:exon2:c.C490T:p.L164F 0.095 0.16 0.2 0.02 0.052 0.064 0.0837 0.1417 0.2399 0.0239 0.0612 0.0618 0.0740 0.0675 0.089 0.14 0.064 0.098 0.09 rs7763565 . . . . . . . . . . . . . 0.143 0.253 T 0.976 0.564 D 0.694 0.521 P 0.284 0.149 N 1 0.090 P 1.825 0.480 L 0.84 0.475 T -1.7 0.452 N 0.055 0.037 -1.063 0.111 T 0.086 0.335 T . . . 0.354 0.128 6.206 0.997 0.791 0.122 0.169 N c -0.100 -0.240 1.000 0.747 0.722 0.854 0 0.943 0.186 0.144 0.158 1.048 0.713 0.000 0.063 0.345 0.245 4.423 0.108 . . . 0.0887 0.1406 0.2379 0.0447 0.0231 0.0568 0.0635 0.0785 0.0671 0.0895 0.1413 0.2285 0.0367 0.0191 0.0535 0.0695 0.0784 het 1447.88 99 6 153296370 . G A 1447.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.315;DP=99;Dels=0.00;FS=5.127;HRun=1;HaplotypeScore=1.8410;MQ=59.24;MQ0=0;MQRankSum=-0.181;QD=14.63;ReadPosRankSum=0.910;VQSLOD=5.8172;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,57:99:99:1478,0,1173 6 153296541 153296541 G C exonic FBXO5 nonsynonymous SNV FBXO5:NM_001142522:exon2:c.C181G:p.Q61E,FBXO5:NM_012177:exon2:c.C319G:p.Q107E 0.77 0.98 0.74 0.6 0.68 0.79 0.7121 0.9404 0.7692 0.5962 0.7008 0.6697 0.6993 0.7654 0.76 0.93 0.67 0.8 0.7 rs2073260 COSM3761597 2(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.059 0.223 N 1 0.090 P -2.175 0.001 N 1.76 0.263 T 0.95 0.017 N 0.021 0.005 -0.923 0.452 T 0.004 0.013 T . . . -1.462 0.018 0.003 0.183 0.006 0.018 0.055 N c -1.221 -1.004 1.000 0.747 0.722 0.854 0 4.54 0.551 0.789 0.264 -0.483 0.053 0.075 0.220 0.098 0.188 6.968 0.237 . ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina 0.7106 0.9450 0.7743 0.5995 0.5980 0.7071 0.6737 0.6885 0.7635 0.7396 0.9402 0.7986 0.6060 0.5752 0.6987 0.6526 0.6878 hom 3505.56 103 6 153296541 . G C 3505.56 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.32;MQ0=0;QD=34.03;VQSLOD=9.9912;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3505,274,0 6 153323594 153323594 C T exonic MTRF1L nonsynonymous SNV MTRF1L:NM_001114184:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301047:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301870:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301872:exon1:c.G227A:p.R76Q,MTRF1L:NM_019041:exon1:c.G227A:p.R76Q . . . . . . 0.6790 0.7102 0.7614 0.5460 0.7290 0.6799 0.6726 0.6481 0.69 0.71 0.68 0.65 0.73 rs3818123 COSM3761600 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.387 0.133 N 0.972 0.256 P -1.1 0.010 N 2.81 0.110 T 0.31 0.072 N 0.026 0.012 -0.908 0.471 T 0.004 0.012 T . . . 0.448 0.137 7.020 0.831 0.140 0.046 0.101 N c -1.581 -1.512 1.000 0.747 0.243 0.034 2 -1.77 0.075 -2.375 0.011 -1.723 0.007 0.006 0.172 0.533 0.276 13.137 0.587 Peptide chain release factor ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000091844.3|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11|ENSG00000227627.1|ENSG00000112031.11|ENSG00000112031.11|ENSG00000112031.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina 0.6837 0.7096 0.7677 0.6219 0.5486 0.7332 0.6818 0.6757 0.6472 0.6769 0.7080 0.7601 0.6291 0.5278 0.7264 0.6596 0.6769 hom 2440.42 79 6 153323594 . C T 2440.42 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.08;MQ0=0;QD=30.89;VQSLOD=6.9185;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2473,199,0 6 153365100 153365100 A C exonic RGS17 synonymous SNV RGS17:NM_012419:exon2:c.T54G:p.A18A 0.5 0.61 0.38 0.63 0.29 0.51 0.3849 0.5608 0.4540 0.6231 0.3420 0.2941 0.3535 0.4869 0.38 0.55 0.3 0.42 0.34 rs2295230 COSM3761601 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3835 0.5605 0.4395 0.3174 0.6258 0.3384 0.2940 0.3500 0.4849 0.4055 0.5601 0.4177 0.3245 0.6472 0.3281 0.3103 0.3816 het 2948.33 248 6 153365100 . A C 2948.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.180;DP=248;DS;Dels=0.00;FS=1.588;HRun=0;HaplotypeScore=6.4152;MQ=58.83;MQ0=1;MQRankSum=-0.768;QD=11.89;ReadPosRankSum=-0.654;VQSLOD=4.0086;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:131,117:248:99:2978,0,3357 6 154414446 154414446 A T exonic OPRM1 nonsynonymous SNV OPRM1:NM_001008505:exon4:c.A1206T:p.Q402H 0.88 0.95 0.83 0.95 0.77 0.87 0.8078 0.9376 0.8691 0.9373 0.7946 0.7517 0.8067 0.8520 0.82 0.94 0.76 0.89 0.68 rs540825 COSM3761607 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.674 0.045 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . -0.55 0.711 T -0.13 0.090 N 0.039 0.019 -0.984 0.340 T 0.096 0.363 T . . . 0.128 0.106 3.904 0.095 0.001 0.003 0.016 N c -1.371 -1.459 0.001 0.082 0.487 0.133 0 -4.63 0.031 -0.683 0.052 -0.235 0.093 0.000 0.063 0.009 0.108 8.286 0.309 . . . 0.8088 0.9375 0.8654 0.7845 0.9326 0.8031 0.7476 0.7934 0.8499 0.8174 0.9343 0.8565 0.7767 0.9309 0.8017 0.7418 0.7786 hom 7837.18 246 6 154414446 . A T 7837.18 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7235;MQ=59.24;MQ0=0;QD=31.86;VQSLOD=8.5239;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7836,620,0 6 154414563 154414563 A G exonic OPRM1 synonymous SNV OPRM1:NM_001008505:exon4:c.A1323G:p.G441G 0.78 0.73 0.73 0.9 0.68 0.85 0.7190 0.7260 0.7843 0.8896 0.6828 0.6612 0.7178 0.8283 0.69 0.73 0.67 0.73 0.6 rs675026 COSM1441734 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7201 0.7264 0.7792 0.6846 0.8839 0.6859 0.6577 0.7019 0.8261 0.6864 0.7203 0.7614 0.6967 0.8772 0.6765 0.6449 0.6745 hom 7053.05 219 6 154414563 . A G 7053.05 Mask AC=2;AF=1.00;AN=2;DP=219;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4648;MQ=59.30;MQ0=0;QD=32.21;VQSLOD=8.2653;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,219:219:99:7052,557,0 6 154414573 154414573 C T exonic OPRM1 synonymous SNV OPRM1:NM_001008505:exon4:c.C1333T:p.L445L 0.75 0.63 0.72 0.9 0.68 0.85 0.7106 0.6311 0.7810 0.8894 0.6830 0.6610 0.7144 0.8266 0.66 0.64 0.67 0.62 0.6 rs562859 COSM3761608 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7130 0.6298 0.7751 0.6846 0.8838 0.6858 0.6574 0.6980 0.8239 0.6585 0.6226 0.7548 0.6921 0.8759 0.6766 0.6447 0.6728 hom 6681.97 203 6 154414573 . C T 6681.97 Mask AC=2;AF=1.00;AN=2;DP=203;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6740;MQ=59.27;MQ0=0;QD=32.92;VQSLOD=9.1419;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6681,521,0 6 154771277 154771277 A G exonic CNKSR3 synonymous SNV CNKSR3:NM_173515:exon2:c.T168C:p.I56I 0.8 0.86 0.76 0.9 0.67 0.8 0.7211 0.8410 0.7981 0.8918 0.6923 0.6499 0.7070 0.8025 0.71 0.83 0.65 0.78 0.63 rs9322467 COSM4407314 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7216 0.8436 0.7935 0.6221 0.8927 0.6885 0.6513 0.6803 0.8050 0.7274 0.8320 0.7673 0.6523 0.8967 0.6870 0.6594 0.6889 hom 5805.33 193 6 154771277 . A G 5805.33 Mask AC=2;AF=1.00;AN=2;DP=193;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5205;MQ=59.42;MQ0=0;QD=30.08;VQSLOD=8.8449;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:5804,472,0 6 155451352 155451352 G A exonic TIAM2 nonsynonymous SNV TIAM2:NM_012454:exon3:c.G995A:p.R332H 0.24 0.071 0.25 0.3 0.17 0.44 0.2218 0.0962 0.2707 0.3344 0.1289 0.1818 0.2026 0.4081 0.16 0.11 0.18 0.15 0.2 rs931312 COSM5617632;COSM5617631 1(breast);1(skin) . . . . . . . . . . . 0.005 0.632 D 1.0 0.899 D 0.991 0.782 D 0.000 0.843 D 0.005 0.810 P 2.36 0.681 M 3.22 0.082 T -1.59 0.402 N 0.325 0.760 -1.156 0.009 T 0.047 0.202 T . . . 5.496 0.746 26.2 0.997 0.811 0.979 0.776 D c 0.526 0.412 1.000 0.747 0.660 0.495 0 4.99 0.658 7.222 0.773 1.048 0.713 1.000 0.715 0.006 0.095 16.852 0.858 . . . 0.2232 0.0960 0.2691 0.1908 0.3263 0.1265 0.1840 0.2059 0.4041 0.1599 0.1001 0.2243 0.1933 0.3536 0.1285 0.1742 0.1996 hom 3522.08 107 6 155451352 . G A 3522.08 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=32.92;VQSLOD=9.8723;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3522,280,0 6 155485554 155485554 G A exonic TIAM2 synonymous SNV TIAM2:NM_012454:exon7:c.G2034A:p.Q678Q 0.57 0.36 0.75 0.56 0.61 0.7 0.6270 0.4230 0.8047 0.5775 0.5981 0.6176 0.6148 0.7045 0.56 0.44 0.62 0.6 0.66 rs1032141 COSM4003765;COSM4003766;COSM4003764 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6360 0.4192 0.7974 0.6818 0.5681 0.5868 0.6175 0.6545 0.6989 0.5625 0.4259 0.7482 0.68 0.5894 0.6025 0.6145 0.6033 het 989.39 92 6 155485554 . G A 989.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.571;DP=92;Dels=0.00;FS=0.947;HRun=1;HaplotypeScore=1.9964;MQ=58.86;MQ0=0;MQRankSum=-0.569;QD=10.75;ReadPosRankSum=-0.490;VQSLOD=6.3803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,39:92:99:1019,0,1513 6 155486519 155486519 G A exonic TIAM2 synonymous SNV TIAM2:NM_012454:exon8:c.G2337A:p.K779K 0.056 0.05 0.095 0.001 0.13 0.017 0.0956 0.0592 0.0641 0.0002 0.1126 0.1334 0.1139 0.0290 0.11 0.064 0.13 0.098 0.16 rs41284214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0954 0.0607 0.0627 0.1283 5.807e-05 0.1153 0.1350 0.1093 0.0304 0.1019 0.0585 0.0656 0.1358 0.0012 0.1053 0.1385 0.1029 hom 2164.36 72 6 155486519 . G A 2164.36 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8583;MQ=59.74;MQ0=0;QD=30.06;VQSLOD=8.6262;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2197,169,0 6 155561760 155561760 T C exonic TIAM2 nonsynonymous SNV TIAM2:NM_001010927:exon2:c.T40C:p.S14P,TIAM2:NM_012454:exon15:c.T3265C:p.S1089P 0.96 0.92 0.98 1. 0.99 0.94 0.9837 0.9263 0.9943 0.9995 1 0.9948 0.9956 0.9524 0.97 0.92 0.99 0.98 0.96 rs4259257 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.000 0.843 N 0.998 0.229 P -2.455 0.001 N -0.37 0.689 T 0.57 0.026 N 0.17 0.227 -1.069 0.095 T 0.033 0.140 T . . . 1.589 0.253 13.79 0.536 0.049 0.053 0.110 N c -0.830 -0.555 1.000 0.517 0.635 0.413 0 5.09 0.685 5.620 0.672 0.040 0.155 1.000 0.715 0.816 0.342 12.091 0.528 Dbl homology (DH) domain . . 0.9855 0.9239 0.9930 0.9941 0.9997 0.9998 0.9944 0.9927 0.9536 0.9761 0.9271 0.9869 1 0.9994 1 0.9948 0.9857 hom 3900.66 113 6 155561760 . T C 3900.66 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.43;MQ0=0;QD=34.52;VQSLOD=9.5017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3900,310,0 6 155577823 155577823 C T exonic TIAM2 synonymous SNV TIAM2:NM_001010927:exon13:c.C1449T:p.A483A,TIAM2:NM_012454:exon26:c.C4674T:p.A1558A 0.75 0.72 0.75 0.99 0.6 0.7 0.6627 0.7118 0.8109 0.9884 0.6031 0.5882 0.6228 0.6841 0.63 0.71 0.59 0.74 0.66 rs1571766 COSM3761617;COSM5830315;COSM3761616 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6644 0.7121 0.7988 0.4390 0.9857 0.6107 0.5959 0.6196 0.6815 0.6651 0.7158 0.7649 0.4172 0.9883 0.6226 0.6110 0.6496 hom 3124.36 94 6 155577823 . C T 3124.36 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=33.24;VQSLOD=9.9318;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3157,250,0 6 155606325 155606325 C T exonic TFB1M synonymous SNV TFB1M:NM_001350501:exon5:c.G633A:p.T211T,TFB1M:NM_001350502:exon5:c.G348A:p.T116T,TFB1M:NM_016020:exon5:c.G633A:p.T211T 0.67 0.68 0.71 0.83 0.53 0.6 0.5722 0.6588 0.7836 0.8527 0.5389 0.4874 0.5530 0.5797 0.55 0.66 0.5 0.7 0.63 rs324356 COSM3761619 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5788 0.6584 0.7737 0.4293 0.8473 0.5410 0.4895 0.5543 0.5794 0.5753 0.6712 0.7266 0.4139 0.8535 0.5527 0.4912 0.5490 het 949.38 83 6 155606325 . C T 949.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.329;DP=83;Dels=0.00;FS=1.814;HRun=1;HaplotypeScore=0.9989;MQ=59.78;MQ0=0;MQRankSum=-0.415;QD=11.44;ReadPosRankSum=0.561;VQSLOD=6.7007;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,39:83:99:979,0,1122 6 155750035 155750035 C T exonic NOX3 synonymous SNV NOX3:NM_015718:exon9:c.G1038A:p.E346E 0.74 0.75 0.63 0.91 0.57 0.79 0.6399 0.7233 0.6636 0.8932 0.6482 0.5695 0.6751 0.7170 0.61 0.72 0.55 0.7 0.54 rs231954 COSM3761620 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6394 0.7221 0.6640 0.6889 0.8905 0.6364 0.5578 0.6306 0.7148 0.6443 0.7099 0.6591 0.6933 0.8790 0.6421 0.5783 0.6570 hom 3586.57 102 6 155750035 . C T 3586.57 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=35.16;VQSLOD=9.5801;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3586,283,0 6 157405930 157405930 G A exonic ARID1B synonymous SNV ARID1B:NM_001346813:exon5:c.G2133A:p.A711A,ARID1B:NM_017519:exon5:c.G2133A:p.A711A,ARID1B:NM_020732:exon6:c.G2172A:p.A724A 0.5 0.28 0.63 0.57 0.52 0.58 0.5190 0.3321 0.6201 0.5542 0.3956 0.5271 0.4769 0.5667 0.47 0.34 0.54 0.4 0.43 rs3734441 COSM450794;COSM1487405 1(large_intestine) Benign not_specified RCV000114263.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5227 0.3285 0.6111 0.6069 0.5488 0.3885 0.5266 0.5150 0.5660 0.4492 0.3460 0.5730 0.6026 0.5256 0.3897 0.5020 0.4918 het 2095.46 145 6 157405930 . G A 2095.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.981;DP=145;Dels=0.00;FS=4.029;HRun=0;HaplotypeScore=2.5584;MQ=58.67;MQ0=0;MQRankSum=1.175;QD=14.45;ReadPosRankSum=-0.206;VQSLOD=5.7377;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,84:145:99:2125,0,1557 6 157739931 157739931 T C exonic TMEM242 synonymous SNV TMEM242:NM_018452:exon3:c.A210G:p.A70A 0.015 0.0008 0.043 . 0.028 0.015 0.0345 0.0068 0.0377 0 0.0556 0.0433 0.0269 0.0228 0.031 0.0083 0.042 0.011 0.016 rs140795384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0360 0.0072 0.0391 0.0305 0.0002 0.0559 0.0452 0.0321 0.0219 0.0325 0.0089 0.0442 0.0331 0 0.0595 0.0416 0.0499 het 1797.11 147 6 157739931 . T C 1797.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.235;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8892;MQ=59.16;MQ0=0;MQRankSum=-0.053;QD=12.23;ReadPosRankSum=-0.346;VQSLOD=3.2442;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,73:147:99:1827,0,2061 6 158330765 158330765 G A exonic SNX9 synonymous SNV SNX9:NM_016224:exon8:c.G774A:p.R258R 0.21 0.22 0.14 0.14 0.25 0.25 0.2095 0.2316 0.1156 0.1204 0.2120 0.2304 0.1960 0.2238 0.23 0.22 0.23 0.15 0.3 rs3211067 COSM3761621 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2044 0.2293 0.1203 0.2357 0.1159 0.2114 0.2309 0.2032 0.2226 0.2145 0.2236 0.1352 0.2417 0.0994 0.2160 0.2256 0.2082 hom 5006.83 162 6 158330765 . G A 5006.83 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.625;DP=162;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9933;MQ=59.38;MQ0=0;MQRankSum=0.278;QD=30.91;ReadPosRankSum=1.219;VQSLOD=9.0115;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,161:162:99:4978,392,0 6 158497717 158497717 T C exonic SYNJ2 synonymous SNV SYNJ2:NM_001178088:exon16:c.T1641C:p.V547V,SYNJ2:NM_003898:exon17:c.T2352C:p.V784V 0.58 0.76 0.35 0.59 0.51 0.55 0.5215 0.7084 0.3142 0.5806 0.5449 0.5217 0.5253 0.5075 0.58 0.7 0.51 0.55 0.58 rs2296508 COSM3761622;COSM5619298 1(bone);1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5077 0.7123 0.3251 0.4621 0.5867 0.5525 0.5191 0.4894 0.5053 0.5729 0.7067 0.3804 0.4467 0.5994 0.5473 0.5135 0.5389 hom 2658.20 93 6 158497717 . T C 2658.20 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=28.58;VQSLOD=8.8391;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2691,229,0 6 158499302 158499302 G T exonic SYNJ2 synonymous SNV SYNJ2:NM_001178088:exon17:c.G1845T:p.A615A,SYNJ2:NM_003898:exon18:c.G2556T:p.A852A 0.55 0.67 0.35 0.58 0.51 0.55 0.5104 0.6437 0.3073 0.5738 0.5398 0.5157 0.5232 0.5013 0.55 0.64 0.51 0.54 0.59 rs2296507 COSM3761623;COSM5830324 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4988 0.6479 0.3187 0.4760 0.5802 0.5476 0.5131 0.4830 0.4983 0.5513 0.6442 0.3732 0.4536 0.5907 0.5421 0.5085 0.5297 hom 6801.10 212 6 158499302 . G T 6801.10 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=32.08;VQSLOD=9.7255;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:212:99:6800,527,0 6 158505088 158505088 A G exonic SYNJ2 synonymous SNV SYNJ2:NM_001178088:exon21:c.A2379G:p.G793G,SYNJ2:NM_003898:exon22:c.A3090G:p.G1030G 0.79 0.98 0.59 0.59 0.85 0.83 0.8060 0.9639 0.4806 0.5878 0.7765 0.8649 0.8304 0.8208 0.89 0.96 0.86 0.77 0.85 rs1744173 COSM1131993 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7881 0.9658 0.4979 0.9027 0.5938 0.7746 0.8635 0.8113 0.8209 0.8475 0.9605 0.5730 0.8974 0.6086 0.7779 0.8405 0.8108 hom 8517.07 250 6 158505088 . A G 8517.07 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.9698;MQ=58.99;MQ0=0;QD=34.07;VQSLOD=7.9138;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8516,665,0 6 158507981 158507981 G A exonic SYNJ2 synonymous SNV SYNJ2:NM_001178088:exon22:c.G2592A:p.R864R,SYNJ2:NM_003898:exon23:c.G3303A:p.R1101R 0.53 0.57 0.34 0.59 0.51 0.56 0.5079 0.5602 0.3032 0.5895 0.5645 0.5195 0.5157 0.5068 0.52 0.55 0.51 0.5 0.5 rs2296506 COSM5830327;COSM450805 1(liver);1(upper_aerodigestive_tract);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4952 0.5617 0.3162 0.4672 0.5958 0.5657 0.5148 0.4839 0.5038 0.5331 0.5624 0.3690 0.4437 0.6096 0.5556 0.5133 0.5349 hom 1793.68 63 6 158507981 . G A 1793.68 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2779;MQ=58.89;MQ0=0;QD=28.47;VQSLOD=6.9437;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:63:99:1827,162,0 6 158509750 158509750 A G exonic SYNJ2 synonymous SNV SYNJ2:NM_001178088:exon23:c.A2691G:p.G897G,SYNJ2:NM_003898:exon24:c.A3402G:p.G1134G 0.8 0.98 0.59 0.61 0.87 0.85 0.8207 0.9594 0.4869 0.5985 0.8186 0.8805 0.8414 0.8419 0.91 0.96 0.88 0.78 0.86 rs350289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8040 0.9603 0.5052 0.9140 0.6062 0.8154 0.8797 0.8256 0.8411 0.8620 0.9560 0.5800 0.9007 0.6247 0.8179 0.8602 0.8286 hom 5796.67 196 6 158509750 . A G 5796.67 Mask AC=2;AF=1.00;AN=2;DP=196;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9469;MQ=59.50;MQ0=0;QD=29.57;VQSLOD=8.4422;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,196:196:99:5796,433,0 6 158517308 158517308 A G exonic SYNJ2 nonsynonymous SNV SYNJ2:NM_001178088:exon26:c.A3692G:p.E1231G,SYNJ2:NM_003898:exon27:c.A4403G:p.E1468G 0.55 0.61 0.36 0.57 0.51 0.61 0.5155 0.5971 0.3074 0.5642 0.5393 0.5184 0.5277 0.5633 0.53 0.58 0.51 0.49 0.53 rs2502601 COSM1441854 1(pancreas);1(liver);1(large_intestine) . . . . . . . . . . . 0.821 0.029 T 0.0 0.026 B 0.0 0.013 B 0.466 0.049 N 1 0.090 P -0.695 0.019 N -2.99 0.921 D -0.01 0.072 N 0.017 0.007 -0.826 0.536 T 0.218 0.581 T . . . -0.274 0.070 0.759 0.881 0.172 0.004 0.019 N c -1.381 -1.343 0.759 0.235 0.706 0.609 0 0.080 0.137 0.042 0.137 0.149 0.237 0.000 0.063 0.001 0.043 5.045 0.137 . ENSG00000078269.9 Thyroid 0.5027 0.5951 0.3210 0.4704 0.5738 0.5433 0.5136 0.4900 0.5587 0.5351 0.5965 0.3708 0.4536 0.5877 0.5349 0.5053 0.5235 hom 1905.37 58 6 158517308 . A G 1905.37 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=32.85;VQSLOD=9.7473;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1938,156,0 6 158571501 158571501 G A exonic SERAC1 synonymous SNV SERAC1:NM_032861:exon4:c.C249T:p.D83D 0.71 0.7 0.82 0.73 0.69 0.65 0.7174 0.7094 0.8518 0.7242 0.7108 0.7072 0.6954 0.6694 0.71 0.71 0.7 0.81 0.67 rs6929274 . . Benign not_specified RCV000128023.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7237 0.7080 0.8494 0.7334 0.7201 0.7113 0.7055 0.7205 0.6690 0.7072 0.7052 0.8103 0.74 0.7061 0.7053 0.7025 0.7077 het 1014.41 89 6 158571501 . G A 1014.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.635;DP=89;Dels=0.00;FS=5.500;HRun=0;HaplotypeScore=0.9973;MQ=57.41;MQ0=0;MQRankSum=-0.152;QD=11.40;ReadPosRankSum=-0.152;VQSLOD=4.6978;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,45:89:99:1044,0,1157 6 158735087 158735087 C T exonic TULP4 synonymous SNV TULP4:NM_001007466:exon1:c.C39T:p.S13S,TULP4:NM_020245:exon1:c.C39T:p.S13S 0.87 0.72 0.91 0.9 0.92 0.93 0.8941 0.7497 0.9446 0.8956 0.8967 0.9013 0.8844 0.9199 0.85 0.74 0.9 0.85 0.84 rs9364951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8992 0.7472 0.9441 0.8952 0.8958 0.8940 0.9023 0.8898 0.9233 0.8534 0.7555 0.9426 0.9172 0.9029 0.9005 0.8852 0.8896 hom 2418.20 80 6 158735087 . C T 2418.20 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=30.23;VQSLOD=8.6898;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2451,199,0 6 158735090 158735090 T C exonic TULP4 synonymous SNV TULP4:NM_001007466:exon1:c.T42C:p.D14D,TULP4:NM_020245:exon1:c.T42C:p.D14D 0.87 0.73 0.91 0.9 0.92 0.93 0.8944 0.7525 0.9447 0.8957 0.8967 0.9013 0.8844 0.9199 0.85 0.75 0.9 0.85 0.84 rs7756620 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8995 0.7499 0.9444 0.8952 0.8959 0.8940 0.9023 0.8901 0.9234 0.8540 0.7576 0.9426 0.9172 0.9029 0.9005 0.8853 0.8893 hom 2545.97 78 6 158735090 . T C 2545.97 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;QD=32.64;VQSLOD=9.5346;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2579,202,0 6 158870081 158870081 A G exonic TULP4 synonymous SNV TULP4:NM_001007466:exon4:c.A597G:p.R199R,TULP4:NM_020245:exon4:c.A597G:p.R199R 0.61 0.78 0.53 0.4 0.59 0.65 0.5811 0.7704 0.4183 0.3875 0.6148 0.5833 0.5949 0.6537 0.64 0.77 0.58 0.66 0.5 rs705956 COSM4827584 1(cervix) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5713 0.7766 0.4337 0.6020 0.3810 0.6072 0.5805 0.5674 0.6568 0.6284 0.7643 0.4845 0.5927 0.3759 0.6166 0.5911 0.5845 het 1962.55 153 6 158870081 . A G 1962.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.851;DP=153;Dels=0.00;FS=0.682;HRun=1;HaplotypeScore=1.5810;MQ=59.88;MQ0=0;MQRankSum=-1.087;QD=12.83;ReadPosRankSum=-1.297;VQSLOD=6.0207;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,72:153:99:1993,0,2312 6 158910698 158910698 G A exonic TULP4 nonsynonymous SNV TULP4:NM_001007466:exon9:c.G1565A:p.S522N,TULP4:NM_020245:exon9:c.G1565A:p.S522N 0.032 0.0038 0.048 0.001 0.053 0.069 0.0466 0.0143 0.0301 0.0002 0.0153 0.0538 0.0463 0.0863 0.045 0.016 0.059 0.043 0.016 rs12206717 COSM5001945 1(pancreas) . . . . . . . . . . . 0.17 0.228 T 0.002 0.131 B 0.009 0.133 B 0.000 0.843 D 1.000 0.477 D 1.39 0.351 L 0.05 0.619 T -0.73 0.206 N 0.017 0.007 -1.046 0.154 T 0.064 0.264 T . . . 2.766 0.393 21.2 0.990 0.506 0.947 0.616 D c -0.173 0.094 1.000 0.747 0.651 0.465 0 5.57 0.840 5.059 0.639 0.953 0.551 1.000 0.715 1.000 0.888 19.542 0.952 . . . 0.0457 0.0129 0.0296 0.0498 0.0002 0.0159 0.0557 0.0459 0.0890 0.0326 0.0157 0.0455 0.0467 0 0.0129 0.0487 0.0448 het 1945.45 146 6 158910698 . G A 1945.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.575;DP=146;Dels=0.00;FS=2.157;HRun=1;HaplotypeScore=1.9148;MQ=58.75;MQ0=0;MQRankSum=2.306;QD=13.32;ReadPosRankSum=0.342;VQSLOD=5.7874;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,76:146:99:1975,0,1864 6 158923434 158923434 G C exonic TULP4 synonymous SNV TULP4:NM_020245:exon13:c.G2739C:p.T913T 0.83 0.79 0.89 0.89 0.75 0.84 0.7872 0.8134 0.9092 0.8900 0.6201 0.7595 0.79 0.8097 0.78 0.81 0.76 0.41 0.72 rs9364968 COSM4160329 1(pancreas);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7884 0.8092 0.8945 0.7742 0.8911 0.6206 0.7662 0.7989 0.8094 0.7602 0.8147 0.8705 0.8054 0.8828 0.6130 0.7440 0.7392 hom 4468.20 132 6 158923434 . G C 4468.20 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4032;MQ=59.48;MQ0=0;QD=33.85;VQSLOD=5.7131;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4468,358,0 6 158924088 158924088 T C exonic TULP4 synonymous SNV TULP4:NM_020245:exon13:c.T3393C:p.D1131D 1. 1. 1. 1. 1. 1. 0.9995 1 0.9997 1 0.9991 0.9992 1 1 1. 1. 1. 1. 0.98 rs914690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 1 0.9999 1 1 0.9995 0.9992 0.9996 1 0.9992 0.9998 1 1 1 0.9991 0.9988 0.9990 hom 4254.02 135 6 158924088 . T C 4254.02 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9827;MQ=58.68;MQ0=0;QD=31.51;VQSLOD=8.0399;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4253,358,0 6 158924595 158924595 A G exonic TULP4 synonymous SNV TULP4:NM_020245:exon13:c.A3900G:p.Q1300Q 0.14 0.17 0.1 0.14 0.19 0.11 0.1680 0.1555 0.0941 0.1387 0.2007 0.1962 0.1497 0.1169 0.18 0.16 0.2 0.12 0.23 rs3749853 COSM3761624 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1637 0.1546 0.1023 0.1585 0.1448 0.1979 0.1933 0.1578 0.1166 0.1784 0.1549 0.1193 0.1490 0.1431 0.2025 0.1954 0.1585 het 1457.21 134 6 158924595 . A G 1457.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.768;DP=134;Dels=0.00;FS=0.662;HRun=0;HaplotypeScore=2.5894;MQ=59.83;MQ0=0;MQRankSum=-2.934;QD=10.87;ReadPosRankSum=0.724;VQSLOD=3.8152;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,56:134:99:1487,0,2168 6 159184462 159184462 A G exonic SYTL3 synonymous SNV SYTL3:NM_001318745:exon14:c.A1026G:p.S342S,SYTL3:NM_001242395:exon15:c.A1440G:p.S480S,SYTL3:NM_001009991:exon16:c.A1440G:p.S480S,SYTL3:NM_001242394:exon17:c.A1644G:p.S548S,SYTL3:NM_001242384:exon18:c.A1644G:p.S548S 0.65 0.93 0.47 0.25 0.79 0.67 0.7010 0.9131 0.3594 0.1945 0.8772 0.7823 0.6806 0.6738 0.83 0.91 0.79 0.7 0.74 rs2291387 COSM4003770;COSM4003771 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6853 0.9120 0.3829 0.7048 0.1923 0.8811 0.7861 0.6712 0.6673 0.7941 0.9066 0.4462 0.6667 0.1782 0.8834 0.7970 0.7821 hom 5496.29 171 6 159184462 . A G 5496.29 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.76;MQ0=0;QD=32.14;VQSLOD=9.1805;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5495,451,0 6 159185563 159185563 T A exonic SYTL3 nonsynonymous SNV SYTL3:NM_001318745:exon15:c.T1142A:p.L381Q,SYTL3:NM_001242395:exon16:c.T1556A:p.L519Q,SYTL3:NM_001009991:exon17:c.T1556A:p.L519Q,SYTL3:NM_001242394:exon18:c.T1760A:p.L587Q,SYTL3:NM_001242384:exon19:c.T1760A:p.L587Q 0.54 0.63 0.44 0.21 0.74 0.63 0.6406 0.6648 0.3332 0.1721 0.8140 0.7338 0.6244 0.6407 0.72 0.68 0.74 0.51 0.67 rs3123101 COSM4416193;COSM4416192 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.782 0.033 T 0.0 0.026 B 0.0 0.013 B 0.029 0.255 N 1 0.090 P -1.895 0.002 N 2.26 0.176 T 3.4 0.001 N 0.193 0.236 -1.030 0.205 T 0.024 0.100 T . . . -0.036 0.090 2.257 0.739 0.102 0.003 0.014 N c -1.332 -1.251 1.000 0.425 0.672 0.522 0 3.22 0.359 0.841 0.271 0.165 0.245 0.007 0.175 0.012 0.117 5.885 0.180 C2 domain ENSG00000092820.13 Muscle_Skeletal 0.6286 0.6608 0.3518 0.6310 0.1712 0.8188 0.7388 0.6185 0.6351 0.6954 0.6702 0.4127 0.5960 0.1557 0.8239 0.7541 0.7255 hom 3719.31 123 6 159185563 . T A 3719.31 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4533;MQ=59.46;MQ0=0;QD=30.24;VQSLOD=8.0711;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3719,286,0 6 159652931 159652931 G C exonic FNDC1 nonsynonymous SNV FNDC1:NM_032532:exon11:c.G1387C:p.E463Q 0.78 0.71 0.86 0.62 0.91 0.87 0.8634 0.7381 0.9155 0.6390 0.9089 0.8974 0.8533 0.8627 0.85 0.76 0.9 0.72 . rs420137 COSM450819 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.914 0.085 N 1 0.090 P -2.125 0.001 N 3.27 0.066 T 0.89 0.016 N 0.01 0.049 -0.967 0.379 T 0.011 0.040 T . . . -1.283 0.023 0.005 0.128 0.002 0.001 0.004 N c -0.946 -0.941 0.011 0.121 0.516 0.203 0 2.79 0.317 -0.072 0.114 0.067 0.174 0.000 0.063 0.001 0.043 11.566 0.499 . ENSG00000235086.1|ENSG00000164694.12 Nerve_Tibial|Pancreas 0.8667 0.7360 0.9120 0.9155 0.6377 0.9050 0.8958 0.8822 0.8626 0.8415 0.7464 0.9105 0.9139 0.6306 0.9003 0.8982 0.8747 hom 1864.32 62 6 159652931 . G C 1864.32 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;QD=30.07;VQSLOD=8.0733;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:62:99:1897,147,0 6 159653635 159653635 C G exonic FNDC1 synonymous SNV FNDC1:NM_032532:exon11:c.C2091G:p.A697A 0.49 0.29 0.65 0.28 0.77 0.58 0.6653 0.3477 0.6831 0.2458 0.7495 0.7609 0.6827 0.6305 0.64 0.37 0.77 0.45 . rs381639 COSM4160337 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6718 0.3330 0.6872 0.7930 0.2485 0.7444 0.7635 0.7357 0.6301 0.6124 0.3442 0.6830 0.7682 0.2519 0.7526 0.7619 0.7035 hom 587.34 19 6 159653635 . C G 587.34 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.91;VQSLOD=13.5036;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:57.13:620,57,0 6 159654487 159654487 G T exonic FNDC1 synonymous SNV FNDC1:NM_032532:exon11:c.G2943T:p.P981P 0.79 0.71 0.86 0.63 0.91 0.87 0.8665 0.7428 0.9157 0.6488 0.9181 0.8984 0.8561 0.8658 0.85 0.76 0.9 0.76 . rs404435 COSM4407396 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8692 0.7364 0.9126 0.9151 0.6428 0.9159 0.8961 0.8874 0.8673 0.8448 0.7490 0.9103 0.9139 0.6334 0.9140 0.8997 0.8827 hom 495.39 16 6 159654487 . G T 495.39 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.96;VQSLOD=13.8986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:45.11:528,45,0 6 159654994 159654994 A C exonic FNDC1 synonymous SNV FNDC1:NM_032532:exon11:c.A3450C:p.V1150V 0.79 0.71 0.86 0.63 0.91 0.87 0.8420 0.7036 0.8851 0.6158 0.8897 0.8744 0.8311 0.8545 0.85 0.76 0.89 0.36 . rs402388 COSM4160338 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8562 0.6977 0.9063 0.9132 0.6173 0.9086 0.8812 0.8806 0.8604 0.8440 0.7455 0.9105 0.9139 0.6341 0.9140 0.9000 0.8822 het 225.07 10 6 159654994 . A C 225.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.348;DP=10;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.348;QD=22.51;ReadPosRankSum=-0.696;VQSLOD=12.4347;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:1,9:10:8.18:255,0,8 6 159655084 159655084 C G exonic FNDC1 nonsynonymous SNV FNDC1:NM_032532:exon11:c.C3540G:p.D1180E 0.78 0.71 0.86 0.63 0.91 0.86 0.8367 0.7005 0.8868 0.6143 0.9049 0.8739 0.8443 0.8271 0.85 0.76 0.9 0.54 . rs420054 COSM4160339 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.063 B 0.117 0.192 N 1.000 0.197 P -0.805 0.016 N 3.1 0.083 T 0.18 0.050 N 0.012 0.153 -0.993 0.319 T 0.018 0.075 T . . . 1.627 0.257 14.00 0.619 0.066 0.021 0.061 N c -0.492 -0.427 0.899 0.260 0.437 0.062 0 2.74 0.312 0.261 0.181 -0.379 0.065 0.999 0.424 0.096 0.187 8.459 0.319 . ENSG00000235086.1|ENSG00000164694.12 Nerve_Tibial|Pancreas 0.8503 0.7085 0.8936 0.8969 0.6223 0.9087 0.8781 0.8692 0.8443 0.8428 0.7441 0.9088 0.9139 0.6340 0.9113 0.8995 0.8809 hom 1016.36 39 6 159655084 . C G 1016.36 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.644;DP=39;Dels=0.00;FS=3.606;HRun=1;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=-0.844;QD=26.06;ReadPosRankSum=-1.111;VQSLOD=3.3001;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,38:39:56.59:1049,57,0 6 159655102 159655102 A G exonic FNDC1 synonymous SNV FNDC1:NM_032532:exon11:c.A3558G:p.G1186G 0.79 0.71 0.86 0.63 0.91 0.87 0.8638 0.7320 0.9146 0.6398 0.9182 0.8977 0.8661 0.8630 0.85 0.76 0.9 0.58 . rs436743 COSM4160340 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8698 0.7335 0.9130 0.9164 0.6426 0.9166 0.8969 0.8892 0.8679 0.8440 0.7450 0.9103 0.9139 0.6344 0.9145 0.9 0.8837 hom 910.02 34 6 159655102 . A G 910.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.019;DP=34;Dels=0.00;FS=3.554;HRun=3;HaplotypeScore=1.7878;MQ=58.58;MQ0=0;MQRankSum=-1.631;QD=26.77;ReadPosRankSum=0.714;VQSLOD=3.4136;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,33:34:42.11:943,42,0 6 159655383 159655383 A G exonic FNDC1 nonsynonymous SNV FNDC1:NM_032532:exon11:c.A3839G:p.Q1280R 0.79 0.71 0.86 0.63 0.91 0.87 0.8680 0.7437 0.9173 0.6537 0.9198 0.8993 0.8649 0.8677 0.85 0.76 0.9 0.73 . rs2501176 COSM4003774 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.631 0.058 N 1 0.090 P -0.405 0.030 N 3.32 0.062 T 1.03 0.014 N 0.014 0.054 -0.914 0.464 T 0.002 0.005 T . . . -1.666 0.013 0.002 0.114 0.002 0.002 0.012 N c -1.762 -1.729 0.886 0.257 0.447 0.083 0 -3.37 0.046 -0.312 0.081 -0.326 0.075 0.000 0.063 0.000 0.016 7.868 0.285 . ENSG00000235086.1|ENSG00000164694.12 Nerve_Tibial|Pancreas 0.8695 0.7345 0.9128 0.9156 0.6430 0.9156 0.8962 0.8874 0.8682 0.8431 0.7442 0.9099 0.9133 0.63 0.9142 0.8991 0.8819 hom 733.04 25 6 159655383 . A G 733.04 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.32;VQSLOD=13.4716;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:72.13:766,72,0 6 159655402 159655402 A G exonic FNDC1 synonymous SNV FNDC1:NM_032532:exon11:c.A3858G:p.P1286P 0.79 0.71 0.86 0.63 0.91 0.87 0.8673 0.7432 0.9166 0.6502 0.9202 0.8993 0.8627 0.8671 0.85 0.76 0.9 0.73 . rs2932988 COSM4407429 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8695 0.7341 0.9127 0.9158 0.6431 0.9159 0.8963 0.8880 0.8681 0.8435 0.7447 0.9099 0.9139 0.6314 0.9142 0.8993 0.8822 hom 946.54 33 6 159655402 . A G 946.54 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.68;VQSLOD=13.8267;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:87.22:980,87,0 6 159667961 159667961 T G exonic FNDC1 synonymous SNV FNDC1:NM_032532:exon15:c.T4650G:p.T1550T 0.16 0.036 0.32 0.098 0.24 0.2 0.2294 0.065 0.4513 0.0909 0.2201 0.2380 0.2238 0.2125 0.18 0.066 0.24 0.13 . rs294911 COSM3761628 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2398 0.0617 0.4357 0.2161 0.0981 0.2161 0.2410 0.2543 0.2122 0.1770 0.0676 0.3786 0.2252 0.1030 0.2126 0.2245 0.2352 het 1642.28 149 6 159667961 . T G 1642.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.277;DP=149;Dels=0.00;FS=2.924;HRun=1;HaplotypeScore=1.9601;MQ=59.59;MQ0=0;MQRankSum=0.280;QD=11.02;ReadPosRankSum=0.067;VQSLOD=6.7009;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,70:149:99:1672,0,1983 6 159672419 159672419 G C exonic FNDC1 synonymous SNV FNDC1:NM_032532:exon17:c.G4920C:p.L1640L 0.22 0.19 0.18 0.33 0.14 0.25 0.1849 0.1852 0.2343 0.3983 0.1592 0.1441 0.1670 0.2155 0.14 0.17 0.13 0.16 . rs551392 COSM4003776 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1833 0.1897 0.2264 0.1490 0.3922 0.1574 0.1386 0.1472 0.2145 0.1780 0.1920 0.2285 0.1954 0.3719 0.1488 0.1528 0.1772 het 1245.37 75 6 159672419 . G C 1245.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.546;DP=75;Dels=0.00;FS=0.903;HRun=0;HaplotypeScore=3.5577;MQ=60.00;MQ0=0;MQRankSum=0.061;QD=16.60;ReadPosRankSum=-2.357;VQSLOD=4.4545;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,48:75:99:1275,0,746 6 159672455 159672455 C T exonic FNDC1 synonymous SNV FNDC1:NM_032532:exon17:c.C4956T:p.D1652D 0.45 0.19 0.63 0.3 0.71 0.56 0.6050 0.2459 0.6467 0.2682 0.7135 0.6895 0.6353 0.5776 0.56 0.29 0.7 0.42 . rs294899 COSM4418393 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6144 0.2387 0.6439 0.6805 0.2749 0.7108 0.6916 0.6739 0.5776 0.5406 0.2541 0.6232 0.6523 0.2819 0.7168 0.6814 0.6306 het 608.93 61 6 159672455 . C T 608.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.222;DP=61;Dels=0.00;FS=0.990;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=0.022;QD=9.98;ReadPosRankSum=-2.807;VQSLOD=5.1933;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,26:61:99:639,0,1045 6 159672542 159672542 C T exonic FNDC1 synonymous SNV FNDC1:NM_032532:exon17:c.C5043T:p.A1681A 0.22 0.19 0.18 0.34 0.14 0.25 0.1917 0.1915 0.2441 0.4039 0.1643 0.1497 0.1726 0.2250 0.15 0.18 0.13 0.16 . rs550443 COSM4003777 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1832 0.1897 0.2261 0.1490 0.3922 0.1572 0.1387 0.1467 0.2143 0.1780 0.1924 0.2273 0.1954 0.3697 0.1493 0.1525 0.1776 het 695.84 50 6 159672542 . C T 695.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.908;DP=50;Dels=0.00;FS=4.183;HRun=0;HaplotypeScore=1.8216;MQ=60.00;MQ0=0;MQRankSum=-1.071;QD=13.92;ReadPosRankSum=0.331;VQSLOD=5.8866;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,27:50:99:726,0,600 6 160113872 160113872 A G exonic SOD2 nonsynonymous SNV SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A 0.41 0.42 0.58 0.12 0.47 0.51 0.5024 0.4521 0.6492 0.1596 0.5033 0.5162 0.4902 0.5375 0.47 0.42 0.5 0.4 0.36 rs4880 COSM3761629 1(large_intestine) Benign|other|drug response SUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascular_complications_of_diabetes_6|cyclophosphamide_response_-_Efficacy RCV000015872.2|RCV000015873.2|RCV000211191.1 MedGen:OMIM|MedGen C2675128:612634|CN236517 . . . . . . 0.926 0.098 T 0.0 0.178 B 0.0 0.158 B 0.003 0.354 N 1 0.290 P . . . 2.8 0.179 T 0.35 0.061 N 0.208 0.256 -0.931 0.440 T 0.008 0.027 T . . . -0.079 0.086 1.894 0.816 0.133 0.134 0.176 N c -0.854 -0.812 1.000 0.747 0.442 0.072 0 3.08 0.344 2.202 0.421 -0.259 0.088 0.649 0.279 0.004 0.083 9.062 0.354 . ENSG00000237927.1|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000237927.1|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000120437.7|ENSG00000237927.1|ENSG00000112110.5|ENSG00000237927.1|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000237927.1|ENSG00000112110.5|ENSG00000237927.1|ENSG00000112110.5|ENSG00000237927.1|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000237927.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.4854 0.4245 0.6238 0.5111 0.1350 0.4738 0.4972 0.4877 0.5192 0.4676 0.4235 0.6062 0.5397 0.1510 0.4716 0.5131 0.5370 hom 1306.63 37 6 160113872 . A G 1306.63 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3639;MQ=58.74;MQ0=0;QD=35.31;VQSLOD=9.4090;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1340,108,0 6 160196343 160196343 A G exonic ACAT2 nonsynonymous SNV ACAT2:NM_001303253:exon5:c.A719G:p.K240R,ACAT2:NM_005891:exon5:c.A632G:p.K211R 0.37 0.17 0.6 0.16 0.55 0.49 0.5160 0.2131 0.6585 0.1864 0.5706 0.5792 0.4967 0.5036 0.45 0.22 0.57 0.32 0.5 rs25683 COSM4003778 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.043 0.413 D 0.969 0.548 D 0.621 0.496 P 0.000 0.843 D 0.000 0.588 P 1.5 0.380 L -2.84 0.913 D -1.94 0.450 N 0.102 0.130 0.433 0.896 D 0.657 0.881 D . . . 3.270 0.452 22.8 0.999 0.951 0.998 0.997 D c 0.626 0.669 1.000 0.747 0.707 0.730 0 5.65 0.868 8.650 0.908 1.199 0.960 1.000 0.715 1.000 0.888 15.880 0.789 Thiolase\x2c N-terminal|Thiolase-like ENSG00000237927.1|ENSG00000146453.8|ENSG00000112110.5|ENSG00000237927.1|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000146453.8|ENSG00000112110.5|ENSG00000112110.5|ENSG00000120437.7|ENSG00000237927.1|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000237927.1|ENSG00000112110.5|ENSG00000237927.1|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000112110.5|ENSG00000237927.1|ENSG00000112110.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.5244 0.2085 0.6403 0.5548 0.1824 0.5747 0.5786 0.5392 0.5015 0.4618 0.2228 0.6232 0.5795 0.1874 0.5742 0.5860 0.5706 hom 2567.01 85 6 160196343 . A G 2567.01 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3483;MQ=58.59;MQ0=0;QD=30.20;VQSLOD=7.3534;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2600,199,0 6 160198395 160198395 G A exonic ACAT2 synonymous SNV ACAT2:NM_001303253:exon7:c.G906A:p.G302G,ACAT2:NM_005891:exon7:c.G819A:p.G273G 0.24 0.14 0.35 0.1 0.38 0.28 0.3404 0.1676 0.3874 0.1148 0.3689 0.3994 0.3326 0.2849 0.32 0.17 0.4 0.21 0.38 rs3465 COSM3765248 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3434 0.1652 0.3759 0.3584 0.1132 0.3762 0.4017 0.3571 0.2832 0.3101 0.1786 0.3723 0.3867 0.0958 0.3622 0.3899 0.3528 het 1532.33 105 6 160198395 . G A 1532.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.708;DP=105;Dels=0.00;FS=0.778;HRun=0;HaplotypeScore=1.8110;MQ=58.80;MQ0=0;MQRankSum=0.556;QD=14.59;ReadPosRankSum=0.530;VQSLOD=6.4514;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,60:105:99:1562,0,1142 6 160211646 160211648 GTT - exonic MRPL18 nonframeshift deletion MRPL18:NM_001318817:exon1:c.27_29del:p.L10del,MRPL18:NM_014161:exon1:c.27_29del:p.L10del 0.67 0.48 0.83 0.59 0.76 0.78 0.7395 0.5189 0.8343 0.5728 0.8195 0.7608 0.7307 0.7819 0.67 0.53 0.75 0.58 . rs796468076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7472 0.5110 0.8236 0.6886 0.5768 0.8226 0.7637 0.7437 0.7814 0.6968 0.5275 0.8041 0.7152 0.5867 0.8204 0.7665 0.7782 hom 3968.98 85 6 160211645 . GGTT G 3968.98 Mask AC=2;AF=1.00;AN=2;DP=85;FS=0.000;HRun=0;HaplotypeScore=678.9681;MQ=52.78;MQ0=0;QD=46.69;set=variant2 GT:AD:DP:GQ:PL 1/1:3,82:85:99:3969,247,0 6 160225012 160225012 T G exonic PNLDC1 synonymous SNV PNLDC1:NM_001271862:exon5:c.T264G:p.S88S,PNLDC1:NM_173516:exon5:c.T231G:p.S77S 0.38 0.24 0.59 0.16 0.51 0.49 0.5017 0.2717 0.6465 0.1865 0.5505 0.5505 0.4769 0.4945 0.45 0.27 0.55 0.3 0.49 rs35435543 COSM4003779 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5092 0.2691 0.6286 0.5186 0.1828 0.5561 0.5505 0.5161 0.4927 0.4607 0.2822 0.6086 0.55 0.1867 0.5573 0.5556 0.55 het 1605.26 155 6 160225012 . T G 1605.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.654;DP=155;Dels=0.00;FS=4.909;HRun=0;HaplotypeScore=5.6540;MQ=59.31;MQ0=0;MQRankSum=0.245;QD=10.36;ReadPosRankSum=-0.981;VQSLOD=4.4047;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,65:155:99:1635,0,2615 6 160468278 160468278 A G exonic IGF2R synonymous SNV IGF2R:NM_000876:exon16:c.A2139G:p.T713T 0.58 0.64 0.49 0.69 0.48 0.53 0.5299 0.6196 0.5540 0.6741 0.5991 0.4843 0.5464 0.5369 0.52 0.61 0.47 0.59 0.43 rs998075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5295 0.6246 0.5425 0.4490 0.6732 0.5898 0.4844 0.5237 0.5349 0.5485 0.6179 0.5217 0.4834 0.6582 0.5868 0.4919 0.5205 hom 4447.55 139 6 160468278 . A G 4447.55 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8245;MQ=59.26;MQ0=0;QD=32.00;VQSLOD=9.7155;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4447,358,0 6 160494409 160494409 A G exonic IGF2R nonsynonymous SNV IGF2R:NM_000876:exon34:c.A4855G:p.R1619G 0.9 0.99 0.92 0.84 0.86 0.87 0.8963 0.9758 0.9486 0.8362 0.9071 0.8796 0.9251 0.9023 0.91 0.97 0.88 0.89 0.75 rs629849 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.033 0.249 N 1 0.090 P . . . 4.55 0.020 T 3.65 0.001 N 0.018 0.123 -0.945 0.419 T 0.001 0.003 T . . . -0.274 0.070 0.760 0.291 0.015 0.049 0.105 N c -0.992 -0.750 0.997 0.354 0.707 0.730 0 4.43 0.528 2.023 0.404 0.138 0.222 0.924 0.318 0.492 0.269 12.172 0.533 Mannose-6-phosphate receptor binding domain . . 0.8987 0.9788 0.9431 0.9485 0.8396 0.9074 0.8768 0.9019 0.9002 0.9115 0.9723 0.9391 0.9570 0.8269 0.9097 0.8832 0.9114 hom 2501.12 80 6 160494409 . A G 2501.12 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9789;MQ=58.87;MQ0=0;QD=31.26;VQSLOD=9.3760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2534,211,0 6 160505199 160505199 C G exonic IGF2R synonymous SNV IGF2R:NM_000876:exon40:c.C6051G:p.L2017L 1. 1. 1. 1. 0.98 1. 0.9918 0.9969 0.9968 1 0.9891 0.9873 0.9956 1 0.99 1. 0.99 1. 0.97 rs614754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9917 0.9971 0.9960 1 1 0.9883 0.9862 0.9898 0.9999 0.9896 0.9954 0.9916 1 0.9994 0.9906 0.9845 0.9919 hom 2288.72 70 6 160505199 . C G 2288.72 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9987;MQ=59.34;MQ0=0;QD=32.70;VQSLOD=9.3152;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2322,178,0 6 160551204 160551204 G C exonic SLC22A1 nonsynonymous SNV SLC22A1:NM_003057:exon2:c.G480C:p.L160F,SLC22A1:NM_153187:exon2:c.G480C:p.L160F 0.88 0.99 0.89 0.85 0.79 0.83 0.8279 0.9607 0.9243 0.8593 0.8334 0.7801 0.8502 0.8499 0.84 0.95 0.78 0.88 0.73 rs683369 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.112 B 0.003 0.234 B 0.015 0.284 N 0.990 0.242 P -0.035 0.050 N -0.92 0.751 T 0.98 0.015 N 0.049 0.034 -1.089 0.056 T 0.062 0.258 T . . . -1.262 0.023 0.005 0.124 0.002 0.050 0.106 N c -1.617 -1.526 0.135 0.172 0.568 0.321 0 1.51 0.220 -0.013 0.125 -0.512 0.051 0.003 0.159 0.200 0.217 5.718 0.171 Major facilitator superfamily domain . . 0.8306 0.9649 0.9133 0.8371 0.8590 0.8335 0.7767 0.8363 0.8480 0.8464 0.9586 0.9117 0.8742 0.8473 0.8386 0.7800 0.8259 hom 6674.71 210 6 160551204 . G C 6674.71 Mask AC=2;AF=1.00;AN=2;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9874;MQ=59.04;MQ0=0;QD=31.78;VQSLOD=9.7285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:6674,518,0 6 160560845 160560845 A G exonic SLC22A1 nonsynonymous SNV SLC22A1:NM_003057:exon7:c.A1222G:p.M408V,SLC22A1:NM_153187:exon7:c.A1222G:p.M408V 0.69 0.73 0.78 0.74 0.59 0.61 0.6405 0.7279 0.8308 0.7307 0.5460 0.5915 0.6236 0.6405 0.64 0.73 0.59 0.71 0.56 rs628031 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.553 0.054 N 1 0.090 P -1.705 0.003 N -0.71 0.729 T 1.06 0.014 N 0.024 0.007 -1.097 0.044 T 0.018 0.073 T . . . -2.930 0.001 0.001 0.353 0.022 0.027 0.072 N c -2.124 -2.138 1.000 0.747 0.554 0.246 0 -9.1 0.006 -2.479 0.011 -0.916 0.026 0.000 0.063 0.002 0.062 1.367 0.021 Major facilitator superfamily domain . . 0.6317 0.7280 0.7986 0.6490 0.7288 0.5430 0.5846 0.6384 0.6235 0.6373 0.7290 0.7943 0.71 0.7176 0.5457 0.5888 0.5948 hom 2349.07 79 6 160560845 . A G 2349.07 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=49.19;MQ0=0;QD=29.74;VQSLOD=5.4558;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2382,202,0 6 160560898 160560905 TGGTAAGT - exonic SLC22A1 frameshift deletion SLC22A1:NM_003057:exon7:c.1275_1276del:p.D426Pfs*28,SLC22A1:NM_153187:exon7:c.1275_1276del:p.D426Pfs*28 0.69 0.74 0.78 0.74 0.58 0.61 0.6122 0.7263 0.8021 0.7106 0.5136 0.5585 0.5951 0.6087 . . . 0.17 . rs866909435 COSM1163664 1(pancreas);2(large_intestine);3(central_nervous_system);2(biliary_tract) Benign not_specified RCV000455695.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5938 0.7209 0.7539 0.5958 0.7083 0.4954 0.5468 0.5794 0.5717 0.6352 0.7356 0.7918 0.7021 0.7098 0.5451 0.5824 0.5920 hom 2187.75 42 6 160560897 . CTGGTAAGT C 2187.75 Mask AC=2;AF=1.00;AN=2;DP=42;FS=0.000;HRun=0;HaplotypeScore=377.4654;MQ=40.27;MQ0=0;QD=52.09;set=variant2 GT:AD:DP:GQ:PL 1/1:14,28:42:87.28:2230,87,0 6 160645832 160645832 C T exonic SLC22A2 synonymous SNV SLC22A2:NM_003058:exon10:c.G1506A:p.V502V 0.69 0.42 0.84 0.8 0.77 0.77 0.7631 0.4658 0.8877 0.7984 0.8369 0.7719 0.7671 0.7788 0.67 0.48 0.77 0.7 0.79 rs316003 COSM4003780 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7775 0.4595 0.8873 0.7929 0.7996 0.8374 0.7713 0.7742 0.7830 0.7030 0.4755 0.8565 0.7815 0.7885 0.8323 0.7799 0.7918 het 1790.91 135 6 160645832 . C T 1790.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.692;DP=135;DS;Dels=0.00;FS=6.709;HRun=0;HaplotypeScore=1.7845;MQ=58.01;MQ0=0;MQRankSum=0.558;QD=13.27;ReadPosRankSum=-0.722;VQSLOD=4.9235;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,77:135:99:1821,0,1635 6 160670282 160670282 A C exonic SLC22A2 nonsynonymous SNV SLC22A2:NM_003058:exon4:c.T808G:p.S270A 0.86 0.81 0.91 0.86 0.89 0.87 0.8933 0.8459 0.9463 0.8763 0.9406 0.8941 0.8789 0.8735 0.88 0.85 0.89 0.88 0.9 rs316019 . . . . . . . Blood metabolite levels . -0.18 24816252 rs316019 2E-259 0.022 0.486 D 0.252 0.322 B 0.37 0.418 B 0.001 0.436 N 1 0.090 P 2.4 0.697 M 0.67 0.522 T -1.56 0.377 N 0.05 0.059 -1.008 0.275 T 0.079 0.315 T . . . 1.377 0.229 12.67 0.930 0.221 0.563 0.298 D c -1.089 -1.158 0.987 0.311 0.487 0.133 0 -2.29 0.064 2.500 0.448 -0.735 0.035 0.997 0.399 0.056 0.168 8.424 0.317 Major facilitator superfamily domain . . 0.8989 0.8461 0.9489 0.8540 0.8727 0.9408 0.8979 0.8917 0.8753 0.8913 0.8506 0.9368 0.85 0.8603 0.9310 0.9059 0.9124 hom 4425.97 139 6 160670282 . A C 4425.97 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5929;MQ=59.40;MQ0=0;QD=31.84;VQSLOD=9.3200;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:139:99:4426,334,0 6 160679400 160679400 C A exonic SLC22A2 synonymous SNV SLC22A2:NM_003058:exon1:c.G390T:p.T130T 0.26 0.27 0.27 0.15 0.39 0.25 0.3433 0.2477 0.1834 0.1749 0.4357 0.4178 0.3536 0.2563 0.35 0.25 0.41 0.26 0.43 rs624249 COSM3761633 1(haematopoietic_and_lymphoid_tissue);17(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3373 0.2432 0.1971 0.4662 0.1697 0.4364 0.4140 0.3575 0.2418 0.3465 0.2402 0.2253 0.4702 0.1757 0.4276 0.4097 0.3842 het 1559.47 139 6 160679400 . C A 1559.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.884;DP=139;Dels=0.00;FS=7.849;HRun=0;HaplotypeScore=10.2339;MQ=57.85;MQ0=0;MQRankSum=2.119;QD=11.22;ReadPosRankSum=-0.203;VQSLOD=2.5887;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:82,57:139:99:1589,0,2060 6 160858188 160858188 G A exonic SLC22A3 synonymous SNV SLC22A3:NM_021977:exon7:c.G1233A:p.A411A 0.31 0.1 0.46 0.46 0.35 0.29 0.3480 0.1280 0.5302 0.4469 0.3119 0.3600 0.3018 0.2756 0.29 0.14 0.36 0.3 0.41 rs2292334 COSM4408831 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3568 0.1271 0.5214 0.2242 0.4433 0.3079 0.3701 0.3474 0.2744 0.3013 0.1365 0.4809 0.2053 0.4442 0.2941 0.3738 0.3292 het 3095.85 226 6 160858188 . G A 3095.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.112;DP=226;DS;Dels=0.00;FS=4.576;HRun=0;HaplotypeScore=6.5612;MQ=58.78;MQ0=0;MQRankSum=0.863;QD=13.70;ReadPosRankSum=0.939;VQSLOD=4.8619;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,106:226:99:3126,0,3245 6 160969629 160969629 A G exonic LPA nonsynonymous SNV LPA:NM_005577:exon32:c.T5036C:p.M1679T 0.65 0.89 0.55 0.45 0.7 0.54 0.6528 0.8637 0.5379 0.4561 0.6440 0.6853 0.6377 0.5775 0.75 0.87 0.69 0.7 0.72 rs1801693 COSM4003781 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.053 0.211 B 0.051 0.240 B . . . 1.000 0.182 P -1.465 0.005 N -0.08 0.639 T 4.03 0.001 N 0.019 0.004 -0.983 0.344 T 0.018 0.074 T . . . -2.234 0.005 0.001 0.180 0.005 0.025 0.069 N c -1.929 -1.796 0.001 0.078 0.487 0.133 0 0.732 0.174 0.935 0.283 -0.552 0.047 0.800 0.295 0.029 0.146 10.760 0.453 Kringle|Kringle\x2c conserved site|Kringle-like fold ENSG00000146477.4|ENSG00000146477.4|ENSG00000146477.4 Pancreas|Skin_Sun_Exposed_Lower_leg|Testis 0.6423 0.8664 0.5429 0.6575 0.4513 0.6465 0.6871 0.6524 0.5740 0.7134 0.8609 0.5897 0.7020 0.4363 0.6472 0.6841 0.6541 het 1678.72 152 6 160969629 . A G 1678.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.838;DP=152;Dels=0.00;FS=7.229;HRun=0;HaplotypeScore=5.3636;MQ=56.59;MQ0=0;MQRankSum=-1.076;QD=11.04;ReadPosRankSum=-0.093;VQSLOD=2.3085;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:87,65:152:99:1709,0,2406 6 161139857 161139857 A G exonic PLG synonymous SNV PLG:NM_000301:exon9:c.A1083G:p.Q361Q 0.14 0.15 0.17 . 0.29 0.078 0.2155 0.1717 0.1044 0.0007 0.2627 0.2939 0.2196 0.0974 0.26 0.18 0.3 0.17 0.23 rs13231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2133 0.1729 0.1231 0.2761 0.0006 0.2588 0.2947 0.2286 0.1008 0.2291 0.1719 0.1408 0.2550 0 0.2723 0.2827 0.2112 het 753.63 70 6 161139857 . A G 753.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.469;DP=70;Dels=0.00;FS=0.923;HRun=0;HaplotypeScore=1.9957;MQ=58.16;MQ0=0;MQRankSum=-0.274;QD=10.77;ReadPosRankSum=1.061;VQSLOD=5.4900;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,29:70:99:784,0,1108 6 161152240 161152240 G A exonic PLG nonsynonymous SNV PLG:NM_000301:exon11:c.G1414A:p.D472N 0.14 0.15 0.18 . 0.3 0.079 0.2171 0.1781 0.1048 0.0007 0.2632 0.2954 0.2214 0.0988 0.26 0.18 0.3 0.16 0.22 rs4252125 . . . . . . . . . . . . . 0.402 0.104 T 0.0 0.026 B 0.001 0.040 B 0.455 0.125 N 1 0.090 P -0.965 0.012 N 0.05 0.619 T 0.33 0.039 N 0.008 0.000 -1.099 0.043 T 0.045 0.192 T . . . -0.632 0.048 0.104 0.657 0.076 0.008 0.033 N c -1.703 -1.655 0.989 0.318 0.526 0.212 0 2.08 0.260 -0.065 0.115 -0.379 0.065 0.000 0.063 0.000 0.016 8.318 0.311 Kringle-like fold . . 0.2152 0.1784 0.1239 0.2898 0.0006 0.2596 0.2958 0.2310 0.1022 0.2316 0.1782 0.1384 0.2682 0 0.2731 0.2837 0.2133 het 2126.26 178 6 161152240 . G A 2126.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.110;DP=178;Dels=0.00;FS=1.190;HRun=1;HaplotypeScore=3.4161;MQ=59.03;MQ0=0;MQRankSum=0.170;QD=11.95;ReadPosRankSum=-0.584;VQSLOD=6.4474;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,84:178:99:2156,0,2314 6 161469774 161469774 G A exonic MAP3K4 nonsynonymous SNV MAP3K4:NM_001301072:exon3:c.G470A:p.R157H,MAP3K4:NM_005922:exon3:c.G470A:p.R157H,MAP3K4:NM_006724:exon3:c.G470A:p.R157H 0.98 1. 0.97 0.99 0.96 0.99 0.9638 0.9933 0.9656 0.9984 0.9121 0.9539 0.9502 0.9874 0.97 0.99 0.96 0.98 0.95 rs4559074 . . . . . . . . . . . . . 1.0 0.033 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.215 P -1.495 0.005 N -0.35 0.686 T 2.03 0.004 N 0.114 0.178 -1.080 0.073 T 0.032 0.137 T . . . 1.718 0.267 14.51 0.836 0.143 0.320 0.243 N c -0.732 -0.441 1.000 0.747 0.706 0.609 0 5.97 0.969 4.808 0.620 0.202 0.252 1.000 0.715 0.998 0.697 12.240 0.537 . . . 0.9632 0.9936 0.9665 0.9935 0.9985 0.9160 0.9525 0.9644 0.9873 0.9593 0.9903 0.9678 0.9967 1 0.9064 0.9495 0.9367 hom 3558.07 111 6 161469774 . G A 3558.07 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=59.79;MQ0=0;QD=32.05;VQSLOD=9.6076;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3558,283,0 6 161519351 161519353 CTG - exonic MAP3K4 nonframeshift deletion MAP3K4:NM_001301072:exon17:c.3554_3556del:p.A1195del,MAP3K4:NM_005922:exon17:c.3566_3568del:p.A1199del,MAP3K4:NM_001291958:exon18:c.1925_1927del:p.A652del . . . . . . 0.5775 0.5619 0.5595 0.5864 0.5998 0.5679 0.5956 0.6222 . . . . . rs752044838 COSM450869;COSM450868 1(lung);11(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7680 0.7239 0.8130 0.8068 0.8736 0.7551 0.7324 0.7610 0.8336 0.9354 0.9674 0.9510 0.9583 0.9963 0.8666 0.9233 0.9085 hom 5709.20 199 6 161519350 . CCTG C 5709.20 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.905;DP=199;DS;FS=1.402;HRun=0;HaplotypeScore=936.6299;MQ=58.70;MQ0=0;MQRankSum=3.507;QD=28.55;ReadPosRankSum=-0.703;set=variant2 GT:AD:DP:GQ:PL 1/1:61,132:199:99:5709,367,0 6 161557662 161557662 G A exonic AGPAT4 synonymous SNV AGPAT4:NM_020133:exon9:c.C1047T:p.S349S 0.14 0.02 0.33 0.18 0.19 0.057 0.1785 0.0440 0.4274 0.2223 0.1545 0.1841 0.1280 0.0551 0.14 0.049 0.19 0.14 0.23 rs3734462 COSM3761634 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1910 0.0422 0.4166 0.1109 0.2168 0.1590 0.1899 0.1839 0.0582 0.1513 0.0437 0.3687 0.1159 0.2222 0.1604 0.1915 0.1718 het 1221.72 98 6 161557662 . G A 1221.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.417;DP=98;Dels=0.00;FS=2.900;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=0.359;QD=12.47;ReadPosRankSum=0.481;VQSLOD=6.6363;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,46:98:99:1252,0,1364 6 161807855 161807855 C G exonic PRKN nonsynonymous SNV PRKN:NM_013988:exon7:c.G691C:p.V231L,PRKN:NM_013987:exon9:c.G1054C:p.V352L,PRKN:NM_004562:exon10:c.G1138C:p.V380L 0.17 0.18 0.16 0.085 0.17 0.26 0.1646 0.1770 0.1090 0.0748 0.1518 0.1611 0.1762 0.2613 0.18 0.19 0.17 0.15 0.2 rs1801582 COSM4985458 6(soft_tissue) Benign|Benign|Likely benign Parkinson_disease_2|not_specified|Parkinson_Disease\x2c_Juvenile RCV000034120.2|RCV000173805.2|RCV000327056.1 MedGen:OMIM|MedGen|MedGen C1868675:600116|CN169374|C0752105 . . . . . . 0.377 0.129 T 0.0 0.026 B 0.0 0.013 B 0.831 0.069 N 1 0.090 P -1.1 0.010 N -2.73 0.925 D -0.09 0.087 N 0.016 0.178 -1.065 0.106 T 0.268 0.640 T . . . 0.084 0.102 3.433 0.261 0.012 0.000 0.003 N c -1.301 -1.237 0.000 0.035 0.497 0.185 0 2.74 0.312 -0.121 0.105 0.120 0.210 0.000 0.063 0.001 0.043 12.338 0.542 IBR domain . . 0.1647 0.1719 0.1167 0.2212 0.0764 0.1524 0.1624 0.1619 0.2630 0.1610 0.1788 0.1304 0.2219 0.0877 0.1554 0.1615 0.1439 het 1594.68 149 6 161807855 . C G 1594.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.256;DP=149;Dels=0.00;FS=0.608;HRun=2;HaplotypeScore=0.8321;MQ=59.47;MQ0=0;MQRankSum=0.361;QD=10.70;ReadPosRankSum=0.052;VQSLOD=6.8186;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,61:149:99:1625,0,2205 6 165832227 165832227 C T exonic PDE10A synonymous SNV PDE10A:NM_001130690:exon11:c.G894A:p.A298A,PDE10A:NM_006661:exon12:c.G864A:p.A288A 0.24 0.42 0.19 0.081 0.25 0.2 0.2564 0.4063 0.1398 0.0930 0.2301 0.2884 0.2423 0.2112 0.33 0.4 0.29 0.21 0.16 rs220740 COSM4419950;COSM3761643 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2517 0.4091 0.1466 0.3922 0.0957 0.2311 0.2871 0.2641 0.2145 0.2955 0.4005 0.1878 0.3775 0.1058 0.2269 0.2785 0.2469 het 804.46 69 6 165832227 . C T 804.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.390;DP=69;Dels=0.00;FS=2.128;HRun=0;HaplotypeScore=0.5784;MQ=58.85;MQ0=0;MQRankSum=-0.587;QD=11.66;ReadPosRankSum=0.216;VQSLOD=6.3345;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,31:69:99:834,0,964 6 166721211 166721211 G T exonic PRR18 synonymous SNV PRR18:NM_175922:exon1:c.C420A:p.T140T 0.76 0.73 0.61 0.92 0.75 0.77 0.7341 0.7369 0.5899 0.9076 0.7359 0.7300 0.7620 0.7532 0.75 0.74 0.75 . 0.43 rs13204594 COSM329568 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);2(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7185 0.7172 0.5875 0.7876 0.9070 0.7344 0.7199 0.7293 0.7383 0.7291 0.7161 0.6533 0.7622 0.9164 0.7300 0.7179 0.7417 hom 343.49 16 6 166721211 . G T 343.49 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=21.47;VQSLOD=7.0594;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,14:16:30.09:376,30,0 6 166721224 166721224 C G exonic PRR18 nonsynonymous SNV PRR18:NM_175922:exon1:c.G407C:p.C136S 0.8 0.87 0.62 0.92 0.75 0.77 0.7487 0.8614 0.6049 0.9089 0.7419 0.7359 0.7650 0.7592 0.79 0.86 0.75 . 0.44 rs7757150 COSM3723212 1(thyroid);1(upper_aerodigestive_tract);5(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.444 0.126 N 1.000 0.207 P -1.845 0.003 N 1.45 0.325 T 4.49 0.000 N 0.046 0.026 -0.918 0.458 T 0.007 0.024 T . . . 0.102 0.103 3.628 0.817 0.134 0.005 0.023 N c -1.349 -1.242 1.000 0.747 0.564 0.319 0 2.49 0.291 0.716 0.253 -0.136 0.110 0.716 0.285 0.468 0.265 8.746 0.336 . . . 0.7273 0.8572 0.5936 0.7886 0.9057 0.7362 0.7227 0.7336 0.7406 0.7715 0.8552 0.6608 0.7641 0.9166 0.7292 0.7210 0.7516 hom 440.20 17 6 166721224 . C G 440.20 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.89;VQSLOD=12.7259;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:36.11:473,36,0 6 166739646 166739646 T C exonic SFT2D1 nonsynonymous SNV SFT2D1:NM_145169:exon5:c.A325G:p.I109V 0.11 0.036 0.079 0.33 0.04 0.083 0.0771 0.0349 0.1076 0.3290 0.0726 0.0414 0.1112 0.0942 0.035 0.033 0.035 0.12 . rs11551053 COSM42929 1(haematopoietic_and_lymphoid_tissue);2(prostate);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.355 0.138 N 1 0.090 P -0.135 0.045 N 0.32 0.585 T 0.35 0.038 N 0.044 0.024 -1.014 0.255 T 0.019 0.078 T . . . -2.557 0.003 0.001 0.200 0.007 0.003 0.018 N c -1.700 -1.658 1.000 0.415 0.732 0.924 0 -1.34 0.086 -1.903 0.017 -2.512 0.003 0.000 0.063 0.000 0.016 5.491 0.160 . . . 0.0794 0.0336 0.1036 0.0928 0.3305 0.0689 0.0371 0.0747 0.0930 0.0588 0.0367 0.1026 0.0894 0.3379 0.0716 0.0348 0.0713 het 816.54 71 6 166739646 . T C 816.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.090;DP=71;Dels=0.00;FS=4.868;HRun=0;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;MQRankSum=1.537;QD=11.50;ReadPosRankSum=-0.650;VQSLOD=5.1056;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,37:71:99:847,0,840 6 166780349 166780349 G T exonic MPC1 unknown UNKNOWN 0.0078 0.0023 0.025 . 0.018 0.001 0.0167 0.0053 0.0128 0 0.0042 0.0260 0.0132 0.0032 0.021 0.005 0.029 . 0.033 rs11557064 . . Benign not_specified RCV000126795.1 MedGen CN169374 . . . . . . 0.753 0.035 T 0.006 0.126 B 0.058 0.250 B 0.000 0.629 N 1 0.810 D 1.115 0.288 L -1.19 0.784 T -0.37 0.132 N . . -0.888 0.491 T 0.098 0.367 T . . . 2.262 0.333 17.92 0.847 0.150 0.986 0.847 D c -0.173 0.129 1.000 0.747 0.732 0.924 0 5.84 0.934 9.226 0.943 1.048 0.713 1.000 0.715 0.967 0.454 17.636 0.880 . . . 0.0173 0.0058 0.0179 0.0168 0 0.0052 0.0276 0.0188 0.0035 0.0149 0.0060 0.0155 0.0132 0 0.0046 0.0241 0.0153 het 1772.92 166 6 166780349 . G T 1772.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.127;DP=166;Dels=0.00;FS=1.263;HRun=0;HaplotypeScore=7.3439;MQ=58.54;MQ0=0;MQRankSum=1.588;QD=10.68;ReadPosRankSum=-0.580;VQSLOD=3.8489;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,80:166:99:1803,0,2067 6 166862233 166862233 T C exonic RPS6KA2 synonymous SNV RPS6KA2:NM_001318937:exon12:c.A1017G:p.T339T,RPS6KA2:NM_001318938:exon14:c.A1044G:p.T348T,RPS6KA2:NM_021135:exon14:c.A1311G:p.T437T,RPS6KA2:NM_001006932:exon15:c.A1335G:p.T445T,RPS6KA2:NM_001318936:exon16:c.A1386G:p.T462T 0.2 0.19 0.27 0.076 0.31 0.18 0.2778 0.2234 0.3305 0.1005 0.2813 0.3161 0.2826 0.2109 0.27 0.21 0.3 0.25 0.29 rs2230730 COSM5438560;COSM5438561;COSM5438559 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2607 0.2001 0.2996 0.3164 0.0913 0.2521 0.2963 0.2874 0.1990 0.2505 0.1997 0.2907 0.3245 0.0713 0.2587 0.2933 0.2561 het 1162.12 85 6 166862233 . T C 1162.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.085;DP=85;Dels=0.00;FS=14.379;HRun=1;HaplotypeScore=2.7604;MQ=59.73;MQ0=0;MQRankSum=-0.328;QD=13.67;ReadPosRankSum=2.826;VQSLOD=3.0129;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,39:85:99:1192,0,1381 6 166952264 166952264 G A exonic RPS6KA2 synonymous SNV RPS6KA2:NM_021135:exon2:c.C108T:p.G36G,RPS6KA2:NM_001006932:exon3:c.C132T:p.G44G,RPS6KA2:NM_001318936:exon4:c.C183T:p.G61G 0.79 0.58 0.85 0.94 0.79 0.87 0.7924 0.6313 0.8944 0.9437 0.7623 0.7696 0.7797 0.8480 0.72 0.64 0.76 0.72 0.82 rs1003857 COSM5476661;COSM5476662;COSM5476660 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7996 0.6278 0.8922 0.7886 0.9410 0.7570 0.7716 0.7897 0.8437 0.7292 0.6418 0.8819 0.7649 0.9518 0.7648 0.7372 0.7464 hom 6704.82 226 6 166952264 . G A 6704.82 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.53;MQ0=0;MQRankSum=0.256;QD=29.67;ReadPosRankSum=-0.598;VQSLOD=9.1416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,223:226:99:6703,562,0 6 167040463 167040463 A G exonic RPS6KA2 synonymous SNV RPS6KA2:NM_021135:exon1:c.T45C:p.S15S 0.17 0.15 0.14 0.26 0.19 0.13 0.2217 0.2235 0.1320 0.2903 0.2392 0.2441 0.2453 0.1577 0.16 0.15 0.17 0.076 0.12 rs10946179 COSM1559738 1(thyroid);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1487 0.1409 0.0810 0.1712 0.1976 0.1285 0.1729 0.1673 0.1246 0.1619 0.1518 0.1087 0.1711 0.2366 0.1244 0.1707 0.1687 het 206.25 20 6 167040463 . A G 206.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.113;DP=20;Dels=0.00;FS=4.320;HRun=1;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=0.643;QD=10.31;ReadPosRankSum=0.340;VQSLOD=5.8130;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:236,0,291 6 167549775 167549775 T C exonic CCR6 synonymous SNV CCR6:NM_004367:exon3:c.T57C:p.F19F,CCR6:NM_031409:exon3:c.T57C:p.F19F 0.13 0.18 0.12 0.048 0.18 0.12 0.1550 0.1758 0.1140 0.0465 0.1346 0.1800 0.1325 0.1358 0.18 0.18 0.19 0.17 0.11 rs3093007 COSM3761658 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1512 0.1738 0.1258 0.1377 0.0417 0.1341 0.1833 0.1572 0.1272 0.1704 0.1777 0.1271 0.1391 0.0414 0.1328 0.1932 0.1497 het 2786.14 226 6 167549775 . T C 2786.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.516;DP=226;DS;Dels=0.00;FS=9.687;HRun=0;HaplotypeScore=1.7880;MQ=59.17;MQ0=0;MQRankSum=1.596;QD=12.33;ReadPosRankSum=0.693;VQSLOD=4.6465;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:120,105:226:99:2816,0,3362 6 167550042 167550042 C T exonic CCR6 synonymous SNV CCR6:NM_004367:exon3:c.C324T:p.T108T,CCR6:NM_031409:exon3:c.C324T:p.T108T 0.56 0.41 0.71 0.54 0.62 0.6 0.6117 0.4299 0.7651 0.5218 0.6072 0.6219 0.6281 0.6272 0.56 0.44 0.63 0.58 0.57 rs2071171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6179 0.4213 0.7605 0.6364 0.5120 0.5927 0.6238 0.6302 0.6100 0.5691 0.4388 0.7136 0.6159 0.4950 0.5911 0.6352 0.6222 het 2855.40 248 6 167550042 . C T 2855.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.522;DP=248;DS;Dels=0.00;FS=2.163;HRun=0;HaplotypeScore=5.2027;MQ=59.53;MQ0=0;MQRankSum=0.155;QD=11.51;ReadPosRankSum=-0.189;VQSLOD=5.0928;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,109:248:99:2885,0,3631 6 167571048 167571048 T C exonic GPR31 nonsynonymous SNV GPR31:NM_005299:exon1:c.A272G:p.H91R 0.99 0.95 1. 1. 1. 1. 0.9959 0.9577 0.9986 1 1 0.9994 0.9964 0.9999 0.99 0.96 1. 0.26 0.67 rs6902566 COSM4160362 1(thyroid) . . . . . . . . . . . 0.1 0.305 T 0.013 0.154 B 0.038 0.220 B 0.693 0.062 N 1 0.090 P -0.315 0.036 N 1.23 0.369 T 1.01 0.014 N 0.012 0.002 -1.013 0.261 T 0.015 0.063 T . . . -0.847 0.038 0.034 0.440 0.033 0.202 0.208 N c -1.627 -1.692 1.000 0.473 0.428 0.059 0 -6.81 0.015 0.930 0.283 -2.521 0.003 0.981 0.351 0.031 0.148 3.436 0.070 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9965 0.9556 0.9978 0.9936 0.9999 1 0.9998 0.9981 0.9999 0.9871 0.9553 0.9976 0.9967 0.9994 1 0.9998 0.9980 hom 1285.35 40 6 167571048 . T C 1285.35 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.42;MQ0=0;QD=32.13;VQSLOD=8.7886;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:40:99:1318,108,0 6 167753691 167753691 C T exonic TTLL2 synonymous SNV TTLL2:NM_031949:exon3:c.C303T:p.S101S 0.31 0.17 0.28 0.51 0.27 0.36 0.2985 0.1874 0.2120 0.4952 0.3005 0.2956 0.2622 0.3396 0.26 0.19 0.29 0.28 0.34 rs877653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2943 0.1876 0.2098 0.2470 0.4998 0.2982 0.2953 0.2860 0.3349 0.2750 0.1862 0.2225 0.2781 0.5514 0.3031 0.2930 0.2765 het 771 55 6 167753691 . C T 771 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.062;DP=55;Dels=0.00;FS=7.811;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.328;QD=14.02;ReadPosRankSum=-0.311;VQSLOD=4.8347;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,28:55:99:801,0,722 6 167754661 167754661 A G exonic TTLL2 nonsynonymous SNV TTLL2:NM_031949:exon3:c.A1273G:p.R425G 0.86 0.98 0.84 0.83 0.78 0.85 0.8078 0.9515 0.8131 0.8092 0.7979 0.7767 0.7974 0.8427 0.83 0.94 0.77 0.94 0.75 rs909545 . . . . . . . . . . . . . 0.078 0.339 T 0.005 0.119 B 0.001 0.040 B 0.766 0.096 N 1 0.090 P 0.345 0.112 N 4.21 0.027 T -0.64 0.187 N 0.047 0.028 -0.930 0.441 T 0.002 0.007 T . . . 0.687 0.159 8.741 0.915 0.201 0.021 0.062 N c -1.055 -1.053 0.998 0.361 0.487 0.133 0 2.4 0.284 0.453 0.214 0.130 0.216 0.000 0.063 0.000 0.016 9.101 0.356 . ENSG00000216966.1 Skin_Sun_Exposed_Lower_leg 0.8053 0.9552 0.8054 0.8105 0.8081 0.8032 0.7747 0.8041 0.8402 0.8285 0.9532 0.8210 0.8212 0.8517 0.8115 0.7599 0.7992 hom 3618.94 107 6 167754661 . A G 3618.94 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.9049;MQ=59.13;MQ0=0;QD=33.82;VQSLOD=9.7471;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3618,289,0 6 167754702 167754702 C T exonic TTLL2 synonymous SNV TTLL2:NM_031949:exon3:c.C1314T:p.D438D 0.51 0.64 0.43 0.62 0.4 0.41 0.4448 0.6190 0.3759 0.6014 0.4333 0.4206 0.3998 0.4073 0.48 0.61 0.42 0.53 0.46 rs909546 COSM1240548 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4375 0.6174 0.3706 0.4364 0.6025 0.4301 0.4184 0.4198 0.4063 0.4871 0.6170 0.3950 0.4636 0.6538 0.4398 0.4157 0.4107 hom 4410.74 129 6 167754702 . C T 4410.74 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=34.19;VQSLOD=10.2995;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4410,361,0 6 167754721 167754721 G A exonic TTLL2 nonsynonymous SNV TTLL2:NM_031949:exon3:c.G1333A:p.G445S 0.062 0.14 0.043 . 0.068 0.035 0.0687 0.1352 0.0341 0.0001 0.0567 0.0789 0.0710 0.0511 0.1 0.14 0.081 0.065 0.074 rs9457304 COSM3761660 2(large_intestine) . . . . . . . . . . . 0.461 0.087 T 0.276 0.302 B 0.062 0.255 B 0.879 0.072 N 1 0.090 P 0.805 0.203 L 4.4 0.022 T -1.05 0.275 N 0.057 0.040 -0.940 0.427 T 0.001 0.004 T . . . -0.116 0.083 1.611 0.521 0.046 0.035 0.085 N c -1.146 -1.217 0.980 0.300 0.554 0.283 0 -0.681 0.107 -0.078 0.112 -0.487 0.053 0.000 0.063 0.000 0.016 1.327 0.020 . . . 0.0664 0.1381 0.0357 0.1229 0.0001 0.0593 0.0770 0.0674 0.0507 0.0860 0.1362 0.0573 0.1225 0 0.0636 0.0746 0.0511 het 1883.42 149 6 167754721 . G A 1883.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.131;DP=149;Dels=0.00;FS=11.353;HRun=1;HaplotypeScore=9.2038;MQ=59.38;MQ0=0;MQRankSum=0.345;QD=12.64;ReadPosRankSum=0.754;VQSLOD=3.5971;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,68:149:99:1913,0,2425 6 168343838 168343838 T C exonic AFDN synonymous SNV AFDN:NM_001207008:exon22:c.T3060C:p.Y1020Y,AFDN:NM_001040000:exon23:c.T3108C:p.Y1036Y,AFDN:NM_001291964:exon23:c.T2985C:p.Y995Y 0.56 0.41 0.56 0.79 0.41 0.66 0.5047 0.4162 0.6257 0.8068 0.5135 0.4320 0.5155 0.6066 0.42 0.42 0.43 0.49 0.37 rs1132306 COSM4407205;COSM4407203;COSM4407204 2(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5104 0.4077 0.6078 0.4466 0.8096 0.5107 0.4288 0.4775 0.6095 0.4679 0.4025 0.5489 0.4698 0.8110 0.5269 0.4489 0.4939 het 1035.09 106 6 168343838 . T C 1035.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.035;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.78;MQ0=0;MQRankSum=-0.421;QD=9.77;ReadPosRankSum=1.007;VQSLOD=6.6434;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,49:106:99:1065,0,1405 6 168349011 168349011 C T exonic AFDN synonymous SNV AFDN:NM_001207008:exon27:c.C3612T:p.I1204I,AFDN:NM_001040000:exon28:c.C3663T:p.I1221I,AFDN:NM_001291964:exon28:c.C3540T:p.I1180I 0.24 0.11 0.25 0.34 0.23 0.3 0.2496 0.1367 0.2827 0.3341 0.2835 0.2384 0.2919 0.2825 0.2 0.14 0.23 0.18 0.2 rs9364371 COSM4409261;COSM150218;COSM4409260 1(stomach);7(soft_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2524 0.1329 0.2692 0.2442 0.3380 0.2727 0.2384 0.2539 0.2840 0.2245 0.1327 0.2524 0.2384 0.3405 0.2818 0.2485 0.2510 het 1275.68 102 6 168349011 . C T 1275.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.101;DP=102;Dels=0.00;FS=2.635;HRun=1;HaplotypeScore=4.7034;MQ=59.18;MQ0=0;MQRankSum=0.003;QD=12.51;ReadPosRankSum=1.324;VQSLOD=5.4718;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,54:102:99:1306,0,1284 6 168459845 168459845 G C exonic FRMD1 nonsynonymous SNV FRMD1:NM_001122841:exon10:c.C1162G:p.Q388E,FRMD1:NM_024919:exon10:c.C1366G:p.Q456E 0.87 0.85 0.82 0.85 0.89 0.93 0.8788 0.8560 0.7712 0.8440 0.8856 0.8959 0.8723 0.9082 0.89 0.86 0.9 0.86 0.35 rs1548349 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.014 0.014 N 1 0.090 P -0.69 0.019 N 0.95 0.433 T 0.08 0.076 N 0.007 0.002 -1.030 0.203 T 0.011 0.041 T . . . -3.225 0.001 0.001 0.365 0.023 0.013 0.045 N c -2.227 -2.190 0.999 0.371 0.554 0.246 0 0.236 0.147 -1.093 0.034 -5.179 0.000 0.000 0.063 0.000 0.016 6.59 0.217 . ENSG00000153303.12 Testis 0.8691 0.8500 0.7720 0.8004 0.8470 0.8933 0.9003 0.8588 0.9056 0.8873 0.8586 0.8019 0.8146 0.8551 0.8877 0.9136 0.8885 hom 302.88 11 6 168459845 . G C 302.88 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.53;VQSLOD=12.8594;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:336,27,0 6 168462626 168462626 G A exonic FRMD1 synonymous SNV FRMD1:NM_001122841:exon8:c.C702T:p.P234P,FRMD1:NM_024919:exon8:c.C906T:p.P302P 0.21 0.45 0.18 0.041 0.2 0.11 0.2840 0.4814 0.3028 0.0726 0.2460 0.2970 0.2658 0.1763 0.28 0.4 0.22 0.26 0.15 rs12197610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1948 0.4179 0.2043 0.2289 0.0369 0.1225 0.2135 0.2003 0.1444 0.2429 0.4048 0.1945 0.2318 0.0388 0.1174 0.2066 0.1881 het 333.14 18 6 168462626 . G A 333.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.140;DP=18;Dels=0.00;FS=2.218;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.733;QD=18.51;ReadPosRankSum=-2.014;VQSLOD=4.3030;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,12:18:99:363,0,176 6 168479604 168479604 G A exonic FRMD1 synonymous SNV FRMD1:NM_024919:exon1:c.C171T:p.L57L 0.84 0.83 0.77 0.82 0.87 0.91 0.8533 0.8398 0.6858 0.8204 0.8307 0.8821 0.8544 0.8895 0.87 0.84 0.88 0.72 0.87 rs34054991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8450 0.8405 0.6960 0.8100 0.8227 0.8386 0.8860 0.8386 0.8904 0.8604 0.8451 0.7524 0.8079 0.8403 0.8303 0.8867 0.8436 hom 5498.09 176 6 168479604 . G A 5498.09 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.6533;MQ=58.69;MQ0=0;QD=31.24;VQSLOD=5.1199;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5497,433,0 6 169632219 169632219 G A exonic THBS2 synonymous SNV THBS2:NM_003247:exon14:c.C2007T:p.G669G 0.19 0.12 0.22 0.27 0.17 0.21 0.1814 0.1097 0.2630 0.2614 0.1872 0.1632 0.1905 0.1980 0.14 0.12 0.16 0.14 0.14 rs35935937 COSM150223 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1852 0.1122 0.2537 0.1528 0.2639 0.1923 0.1620 0.1721 0.1948 0.1591 0.1183 0.2093 0.1589 0.2447 0.1948 0.1613 0.1765 het 2813.06 213 6 169632219 . G A 2813.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.331;DP=213;Dels=0.00;FS=5.842;HRun=0;HaplotypeScore=6.4999;MQ=59.21;MQ0=0;MQRankSum=-2.017;QD=13.21;ReadPosRankSum=0.819;VQSLOD=2.8345;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:104,109:213:99:2843,0,2674 6 169637763 169637763 G C exonic THBS2 synonymous SNV THBS2:NM_003247:exon9:c.C1257G:p.S419S 0.25 0.25 0.25 0.27 0.2 0.3 0.2231 0.2328 0.2859 0.2517 0.1931 0.1914 0.2218 0.2966 0.21 0.24 0.19 0.23 0.066 rs9766671 COSM450928 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2239 0.2364 0.2809 0.2046 0.2541 0.1961 0.1893 0.2097 0.2921 0.2056 0.2349 0.2375 0.2067 0.2380 0.1995 0.1850 0.1998 het 1675.97 130 6 169637763 . G C 1675.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.362;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8720;MQ=59.39;MQ0=0;MQRankSum=1.141;QD=12.89;ReadPosRankSum=-1.243;VQSLOD=5.1088;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,65:130:99:1706,0,1843 6 170144194 170144194 T C exonic TCTE3 synonymous SNV TCTE3:NM_174910:exon2:c.A297G:p.S99S 0.12 0.13 0.12 0.17 0.025 0.12 0.0677 0.1396 0.2032 0.1622 0.0256 0.0164 0.0466 0.1040 0.059 0.14 0.018 0.13 0.025 rs2274954 COSM5461348 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0708 0.1402 0.1938 0.0114 0.1652 0.0244 0.0165 0.0509 0.1018 0.0615 0.1321 0.1516 0.0099 0.1540 0.0229 0.0173 0.0356 het 993.89 85 6 170144194 . T C 993.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.778;DP=85;Dels=0.00;FS=0.818;HRun=1;HaplotypeScore=0.9789;MQ=59.56;MQ0=0;MQRankSum=1.950;QD=11.69;ReadPosRankSum=0.621;VQSLOD=5.9108;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,40:85:99:1024,0,1157 6 170162537 170162537 C T exonic ERMARD synonymous SNV ERMARD:NM_001278532:exon8:c.C492T:p.C164C,ERMARD:NM_001278531:exon9:c.C870T:p.C290C,ERMARD:NM_001278533:exon9:c.C870T:p.C290C,ERMARD:NM_018341:exon9:c.C870T:p.C290C 0.2 0.24 0.17 0.27 0.1 0.19 0.1450 0.2469 0.2356 0.2802 0.0866 0.0923 0.1267 0.1840 0.14 0.24 0.095 0.26 0.049 rs11966349 COSM5425883;COSM5425884 1(breast);2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000426163.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1432 0.2493 0.2237 0.0986 0.2780 0.0837 0.0904 0.1164 0.1815 0.1514 0.2476 0.1870 0.0993 0.2874 0.0826 0.0984 0.1120 het 2223.75 203 6 170162537 . C T 2223.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.063;DP=203;Dels=0.00;FS=4.362;HRun=0;HaplotypeScore=2.8593;MQ=59.04;MQ0=0;MQRankSum=2.247;QD=10.95;ReadPosRankSum=-0.824;VQSLOD=5.1782;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,90:203:99:2254,0,2956 6 170176647 170176647 C T exonic ERMARD synonymous SNV ERMARD:NM_001278532:exon15:c.C1239T:p.I413I,ERMARD:NM_018341:exon16:c.C1617T:p.I539I 0.34 0.5 0.3 0.33 0.24 0.29 0.2661 0.4740 0.3229 0.3170 0.1667 0.2215 0.2650 0.2892 0.31 0.48 0.22 . 0.18 rs4716399 COSM3761678 1(haematopoietic_and_lymphoid_tissue);1(liver);2(large_intestine) Benign not_specified RCV000437515.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2604 0.4798 0.3132 0.2658 0.3164 0.1668 0.2182 0.2380 0.2853 0.2968 0.4783 0.2962 0.2467 0.3092 0.1768 0.2236 0.2352 het 1005.23 93 6 170176647 . C T 1005.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.846;DP=93;Dels=0.00;FS=4.019;HRun=1;HaplotypeScore=1.6642;MQ=59.50;MQ0=0;MQRankSum=-1.524;QD=10.81;ReadPosRankSum=0.786;VQSLOD=5.5943;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,42:93:99:1035,0,1469 6 170176648 170176648 A G exonic ERMARD nonsynonymous SNV ERMARD:NM_001278532:exon15:c.A1240G:p.S414G,ERMARD:NM_018341:exon16:c.A1618G:p.S540G 0.34 0.5 0.3 0.33 0.24 0.29 0.2662 0.4740 0.3234 0.3176 0.1667 0.2216 0.2645 0.2891 0.31 0.48 0.22 . 0.18 rs4716346 COSM3761679 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign not_specified RCV000420811.1 MedGen CN169374 . . . . . . 0.247 0.189 T 0.0 0.026 B 0.0 0.013 B 0.337 0.140 N 1 0.090 P 1.87 0.498 L 0.84 0.475 T -1.0 0.270 N 0.04 0.020 -1.061 0.115 T 0.029 0.125 T . . . -0.796 0.040 0.044 0.881 0.171 0.059 0.117 N c -1.664 -1.762 0.978 0.299 0.758 0.990 0 -6.82 0.015 -0.939 0.040 -0.154 0.108 0.000 0.063 0.158 0.207 5.928 0.182 . ENSG00000184465.11|ENSG00000184465.11|ENSG00000184465.11|ENSG00000184465.11|ENSG00000184465.11|ENSG00000184465.11|ENSG00000130024.10|ENSG00000184465.11|ENSG00000184465.11|ENSG00000184465.11|ENSG00000130023.11|ENSG00000184465.11 Adipose_Subcutaneous|Adrenal_Gland|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Pancreas|Stomach|Thyroid|Thyroid 0.2604 0.4798 0.3132 0.2659 0.3165 0.1668 0.2182 0.2380 0.2853 0.2970 0.4786 0.2955 0.2467 0.3096 0.1768 0.2236 0.2352 het 1052.84 94 6 170176648 . A G 1052.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.171;DP=94;Dels=0.00;FS=6.817;HRun=1;HaplotypeScore=1.6642;MQ=59.51;MQ0=0;MQRankSum=0.855;QD=11.20;ReadPosRankSum=1.010;VQSLOD=4.8148;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,42:94:99:1083,0,1510 6 170626943 170626943 T C exonic FAM120B synonymous SNV FAM120B:NM_001286379:exon2:c.T501C:p.S167S,FAM120B:NM_001286380:exon2:c.T534C:p.S178S,FAM120B:NM_032448:exon2:c.T465C:p.S155S 0.16 0.075 0.2 0.28 0.13 0.15 0.1500 0.0920 0.1456 0.3134 0.0732 0.1417 0.1498 0.1684 0.13 0.096 0.14 0.13 0.11 rs3800266 COSM3761681;COSM3761680 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1468 0.0897 0.1423 0.1353 0.3058 0.0684 0.1428 0.1329 0.1684 0.1239 0.0842 0.1396 0.1358 0.3083 0.0707 0.1388 0.1184 het 2290.86 154 6 170626943 . T C 2290.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.905;DP=154;Dels=0.00;FS=1.267;HRun=1;HaplotypeScore=3.5965;MQ=59.70;MQ0=0;MQRankSum=0.669;QD=14.88;ReadPosRankSum=-0.043;VQSLOD=6.2263;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,77:154:99:2321,0,2311 6 170627797 170627797 A G exonic FAM120B nonsynonymous SNV FAM120B:NM_001286379:exon2:c.A1355G:p.Y452C,FAM120B:NM_001286380:exon2:c.A1388G:p.Y463C,FAM120B:NM_032448:exon2:c.A1319G:p.Y440C 0.13 0.071 0.14 0.19 0.13 0.14 0.1290 0.0737 0.0957 0.2024 0.0686 0.1333 0.1325 0.1551 0.12 0.088 0.14 . 0.098 rs9366138 COSM3761695;COSM3761694 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.708 0.041 T 0.0 0.026 B 0.0 0.013 B 0.311 0.040 N 1 0.090 P -1.01 0.011 N 3.15 0.078 T 0.52 0.029 N 0.022 0.054 -0.911 0.467 T 0.001 0.005 T . . . -0.827 0.039 0.037 0.067 0.000 0.002 0.014 N c -1.901 -1.908 0.990 0.318 0.737 0.974 0 -3.95 0.038 -2.973 0.007 -0.482 0.053 0.000 0.063 0.001 0.043 1.112 0.016 . ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000261003.1|ENSG00000112584.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.1279 0.0762 0.0941 0.1238 0.2122 0.0651 0.1386 0.1163 0.1556 0.1110 0.0722 0.1077 0.1154 0.2161 0.0682 0.1339 0.1084 het 4364.92 250 6 170627797 . A G 4364.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.425;DP=250;DS;Dels=0.00;FS=1.557;HRun=0;HaplotypeScore=6.1919;MQ=57.88;MQ0=0;MQRankSum=-0.829;QD=17.46;ReadPosRankSum=-0.047;VQSLOD=2.9990;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,131:250:99:3699,0,3152 6 170628009 170628009 T G exonic FAM120B nonsynonymous SNV FAM120B:NM_001286379:exon2:c.T1567G:p.C523G,FAM120B:NM_001286380:exon2:c.T1600G:p.C534G,FAM120B:NM_032448:exon2:c.T1531G:p.C511G 0.16 0.075 0.2 0.28 0.13 0.15 0.1500 0.0922 0.1456 0.3132 0.0732 0.1417 0.1501 0.1683 0.13 0.096 0.14 0.13 0.098 rs9348266 COSM3761696;COSM3761697 1(large_intestine) . . . . . . . . . . . 0.46 0.091 T 0.545 0.361 P 0.196 0.350 B . . . 1 0.090 P 0.55 0.145 N 2.84 0.107 T -0.8 0.221 N 0.047 0.077 -0.942 0.424 T 0.005 0.018 T . . . -0.676 0.046 0.082 0.454 0.035 0.027 0.072 N c -1.092 -1.236 0.813 0.244 0.706 0.609 0 -1.96 0.071 -0.901 0.042 0.814 0.334 0.000 0.063 0.002 0.062 1.107 0.016 . ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000112584.9|ENSG00000261003.1|ENSG00000112584.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.1469 0.0898 0.1424 0.1354 0.3059 0.0685 0.1429 0.1328 0.1684 0.1238 0.0843 0.1396 0.1358 0.3081 0.0707 0.1386 0.1191 het 1330.22 84 6 170628009 . T G 1330.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.707;DP=84;Dels=0.00;FS=3.641;HRun=1;HaplotypeScore=1.7552;MQ=60.00;MQ0=0;MQRankSum=0.114;QD=15.84;ReadPosRankSum=0.187;VQSLOD=6.2820;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,43:84:99:1360,0,1046 6 170862300 170862300 G C exonic PSMB1 nonsynonymous SNV PSMB1:NM_002793:exon1:c.C31G:p.P11A 0.45 0.27 0.4 0.77 0.41 0.44 0.4251 0.3042 0.3754 0.7830 0.4388 0.4065 0.3824 0.4126 0.36 0.3 0.39 0.38 0.39 rs12717 COSM3761698 1(urinary_tract);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.464 0.086 T 0.0 0.026 B 0.0 0.013 B 0.965 0.077 N 1 0.090 P 0.55 0.145 N 1.85 0.245 T -0.13 0.090 N 0.028 0.009 -0.945 0.419 T 0.012 0.045 T . . . -0.734 0.043 0.060 0.760 0.109 0.035 0.085 N c -1.083 -1.100 1.000 0.747 0.442 0.072 0 0.413 0.155 0.086 0.147 0.079 0.188 0.000 0.063 0.000 0.016 6.025 0.188 . ENSG00000008018.8|ENSG00000008018.8|ENSG00000008018.8|ENSG00000008018.8|ENSG00000008018.8|ENSG00000008018.8|ENSG00000008018.8|ENSG00000008018.8|ENSG00000008018.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Whole_Blood 0.4154 0.2836 0.3650 0.3371 0.7788 0.4311 0.4012 0.3868 0.4015 0.3907 0.2882 0.3711 0.3377 0.7829 0.4359 0.3992 0.3990 hom 1478.40 45 6 170862300 . G C 1478.40 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.08;MQ0=0;QD=32.85;VQSLOD=8.9174;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1511,117,0 6 170878793 170878793 T C exonic TBP synonymous SNV TBP:NM_001172085:exon5:c.T711C:p.N237N,TBP:NM_003194:exon6:c.T771C:p.N257N 0.61 0.71 0.5 0.79 0.51 0.49 0.5319 0.6648 0.4474 0.7946 0.4873 0.5124 0.4923 0.4683 0.55 0.66 0.5 0.67 0.54 rs1042327 . . Likely benign not_specified RCV000118601.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5237 0.6633 0.4490 0.5398 0.7895 0.4809 0.5090 0.5135 0.4677 0.5633 0.6631 0.4666 0.5232 0.7949 0.4903 0.5077 0.5010 hom 2715.47 80 6 170878793 . T C 2715.47 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=33.94;VQSLOD=10.1121;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2748,214,0 7 618938 618938 A G exonic PRKAR1B synonymous SNV PRKAR1B:NM_001164758:exon9:c.T846C:p.I282I,PRKAR1B:NM_001164759:exon9:c.T846C:p.I282I,PRKAR1B:NM_001164760:exon9:c.T846C:p.I282I,PRKAR1B:NM_001164761:exon9:c.T846C:p.I282I,PRKAR1B:NM_001164762:exon9:c.T846C:p.I282I,PRKAR1B:NM_002735:exon9:c.T846C:p.I282I 0.36 0.54 0.34 0.27 0.44 0.16 0.3689 0.5017 0.2775 0.2565 0.5799 0.4012 0.4040 0.1913 0.43 0.5 0.4 0.34 0.44 rs3211362 COSM3762796 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3698 0.5039 0.2937 0.3242 0.2450 0.5825 0.4026 0.3765 0.1963 0.4537 0.5086 0.3150 0.3179 0.2290 0.5900 0.4252 0.4489 het 1731.94 160 7 618938 . A G 1731.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.759;DP=160;Dels=0.00;FS=1.320;HRun=0;HaplotypeScore=5.5550;MQ=58.08;MQ0=0;MQRankSum=1.675;QD=10.82;ReadPosRankSum=-0.912;VQSLOD=4.4149;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,71:160:99:1762,0,2489 7 810219 810219 T C exonic DNAAF5 nonsynonymous SNV DNAAF5:NM_017802:exon9:c.T1895C:p.V632A 0.39 0.36 0.44 0.35 0.46 0.37 0.4304 0.3516 0.3859 0.3409 0.5160 0.4714 0.4065 0.3605 0.43 0.36 0.47 0.38 0.43 rs4720951 COSM4162472;COSM5432858 1(oesophagus);1(thyroid) Benign not_specified RCV000253429.1 MedGen CN169374 . . . . . . 0.123 0.275 T 0.014 0.156 B 0.003 0.093 B 0.432 0.127 N 0.969 0.257 P 1.4 0.355 L -0.25 0.670 T -2.22 0.510 N 0.047 0.460 -0.970 0.371 T 0.000 0.000 T . . . 1.329 0.224 12.42 0.823 0.136 0.860 0.449 D c -0.402 -0.341 1.000 0.747 0.707 0.730 0 3.55 0.396 3.936 0.560 1.056 0.757 1.000 0.715 0.339 0.244 9.728 0.393 Armadillo-like helical|Armadillo-type fold ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000188191.10|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000273151.1|ENSG00000164818.11|ENSG00000164818.11|ENSG00000188191.10|ENSG00000273151.1|ENSG00000164818.11 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4347 0.3500 0.4008 0.4670 0.3386 0.5128 0.4708 0.4585 0.3659 0.4331 0.3535 0.4197 0.4205 0.3524 0.5201 0.4665 0.4704 het 1093.55 78 7 810219 . T C 1093.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.098;DP=78;Dels=0.00;FS=4.447;HRun=0;HaplotypeScore=1.6598;MQ=58.56;MQ0=0;MQRankSum=-0.340;QD=14.02;ReadPosRankSum=0.543;VQSLOD=5.5543;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,46:78:99:1124,0,768 7 814788 814788 G A exonic DNAAF5 nonsynonymous SNV DNAAF5:NM_017802:exon11:c.G2228A:p.R743K 0.67 0.74 0.67 0.62 0.61 0.68 0.6211 0.7010 0.6049 0.6314 0.6604 0.6008 0.6049 0.6436 0.63 0.69 0.59 0.63 0.57 rs3922641 . . Benign not_specified RCV000242560.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.182 P -1.72 0.003 N -0.18 0.658 T 1.58 0.007 N 0.006 0.195 -0.929 0.443 T 0.000 0.000 T . . . 1.327 0.223 12.41 0.858 0.156 0.135 0.177 N c -1.058 -0.795 0.999 0.386 0.646 0.442 0 2.76 0.314 0.716 0.253 -0.711 0.037 0.992 0.373 0.883 0.370 8.382 0.315 Armadillo-like helical|Armadillo-type fold ENSG00000164818.11|ENSG00000188191.10|ENSG00000164818.11|ENSG00000164818.11|ENSG00000188191.10|ENSG00000164818.11|ENSG00000164818.11|ENSG00000188191.10|ENSG00000164818.11|ENSG00000164818.11|ENSG00000188191.10|ENSG00000164818.11|ENSG00000164818.11|ENSG00000188191.10|ENSG00000164818.11|ENSG00000164818.11|ENSG00000188191.10|ENSG00000164818.11|ENSG00000188191.10|ENSG00000273151.1|ENSG00000164818.11|ENSG00000164818.11|ENSG00000188191.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Thyroid 0.6234 0.7045 0.6199 0.5797 0.6332 0.6616 0.6016 0.6235 0.6470 0.6395 0.6983 0.6256 0.5464 0.6564 0.6603 0.6016 0.6334 het 856.75 74 7 814788 . G A 856.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.132;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=59.38;MQ0=0;MQRankSum=-0.374;QD=11.58;ReadPosRankSum=1.226;VQSLOD=6.4863;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,35:74:99:887,0,1003 7 881668 881668 C T exonic SUN1 nonsynonymous SNV SUN1:NM_001130965:exon3:c.C352T:p.H118Y,SUN1:NM_025154:exon3:c.C202T:p.H68Y,SUN1:NM_001171944:exon4:c.C352T:p.H118Y,SUN1:NM_001171946:exon4:c.C352T:p.H118Y,SUN1:NM_001171945:exon5:c.C415T:p.H139Y 0.53 0.62 0.44 0.64 0.43 0.47 0.4667 0.5915 0.4088 0.6435 0.5002 0.4382 0.4443 0.4436 0.48 0.56 0.43 0.59 0.46 rs6461378 COSM4998813;COSM4998810;COSM4998811;COSM4998812 2(breast);1(pancreas) . . . . . . . . . . . 0.268 0.446 T 0.917 0.513 P 0.212 0.477 B 0.276 0.150 N 0.875 0.351 P 1.04 0.263 L 0.7 0.515 T -1.86 0.577 N 0.052 0.175 -0.947 0.415 T 0.000 0.000 T . . . 3.431 0.470 23.0 0.911 0.197 0.991 0.912 D c 0.185 0.243 1.000 0.747 0.722 0.854 0 5.56 0.836 5.741 0.681 0.931 0.441 1.000 0.715 0.031 0.148 19.110 0.933 SUN domain-containing protein 1\x2c N-terminal ENSG00000273151.1|ENSG00000164818.11|ENSG00000273151.1|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000273151.1|ENSG00000164818.11|ENSG00000273151.1|ENSG00000164818.11|ENSG00000164818.11|ENSG00000164818.11|ENSG00000273151.1|ENSG00000273151.1|ENSG00000164828.13|ENSG00000164818.11|ENSG00000273151.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4675 0.5925 0.4223 0.4465 0.6470 0.4919 0.4384 0.4754 0.4476 0.5047 0.5924 0.4341 0.4172 0.6726 0.4937 0.4449 0.4887 het 1779.94 116 7 881668 . C T 1779.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.949;DP=116;Dels=0.00;FS=2.442;HRun=0;HaplotypeScore=3.9248;MQ=58.91;MQ0=0;MQRankSum=0.524;QD=15.34;ReadPosRankSum=-1.617;VQSLOD=5.4277;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,68:116:99:1810,0,1209 7 897492 897492 A G exonic SUN1 synonymous SNV SUN1:NM_001171944:exon11:c.A1113G:p.T371T,SUN1:NM_025154:exon12:c.A1173G:p.T391T,SUN1:NM_001130965:exon13:c.A1422G:p.T474T 0.44 0.51 0.47 0.48 0.35 0.36 0.3880 0.5031 0.5009 0.5006 0.4129 0.3410 0.4044 0.3601 0.38 0.48 0.33 0.4 0.32 rs10950789 COSM3762879;COSM3762878;COSM3762880 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3849 0.5052 0.4793 0.2838 0.4946 0.4155 0.3384 0.3501 0.3491 0.4104 0.4945 0.4427 0.2733 0.4716 0.4049 0.3601 0.3633 het 2884.56 250 7 897492 . A G 2884.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.145;DP=250;DS;Dels=0.00;FS=6.372;HRun=1;HaplotypeScore=6.1589;MQ=59.41;MQ0=0;MQRankSum=0.492;QD=11.54;ReadPosRankSum=0.821;VQSLOD=4.4678;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:142,108:250:99:2915,0,4426 7 925717 925717 G A exonic GET4 synonymous SNV GET4:NM_015949:exon2:c.G180A:p.T60T 0.094 0.098 0.18 0.001 0.15 0.067 0.1329 0.0956 0.2465 0.0015 0.1945 0.1444 0.1371 0.0754 0.13 0.094 0.15 0.15 0.098 rs11543222 COSM4407251 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1379 0.0969 0.2326 0.1054 0.0011 0.1990 0.1452 0.1287 0.0739 0.1399 0.0965 0.2017 0.1159 0 0.2014 0.1636 0.1319 het 776.94 61 7 925717 . G A 776.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.614;DP=61;Dels=0.00;FS=11.041;HRun=0;HaplotypeScore=1.9723;MQ=59.69;MQ0=0;MQRankSum=-1.567;QD=12.74;ReadPosRankSum=-0.469;VQSLOD=3.6760;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,29:61:99:807,0,927 7 940181 940181 C T exonic ADAP1 nonsynonymous SNV ADAP1:NM_001284311:exon5:c.G436A:p.G146S,ADAP1:NM_001284310:exon6:c.G505A:p.G169S,ADAP1:NM_001284308:exon7:c.G754A:p.G252S,ADAP1:NM_001284309:exon7:c.G505A:p.G169S,ADAP1:NM_006869:exon7:c.G721A:p.G241S 0.87 0.95 0.81 0.9 0.83 0.8 0.8529 0.9362 0.8404 0.8698 0.8994 0.8473 0.8543 0.8089 0.88 0.93 0.85 0.95 0.75 rs10256887 COSM4162506;COSM4162505 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.366 N 1 0.090 P -2.44 0.001 N 2.0 0.215 T 2.37 0.003 N 0.047 0.333 -0.990 0.327 T 0.000 0.000 T . . . 0.738 0.164 9.071 0.795 0.123 0.018 0.057 N c -0.881 -0.787 0.962 0.285 0.672 0.522 0 4.47 0.536 0.750 0.258 -0.310 0.079 0.280 0.249 0.006 0.095 5.283 0.149 PH domain-like;PH domain-like|Pleckstrin homology domain . . 0.8520 0.9371 0.8391 0.9000 0.8725 0.8946 0.8409 0.8596 0.8068 0.8886 0.9440 0.8397 0.9007 0.8822 0.8973 0.8598 0.8540 hom 1101.81 41 7 940181 . C T 1101.81 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.10;MQ0=0;QD=26.87;VQSLOD=7.7759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:90.25:1135,90,0 7 1028376 1028376 C T exonic CYP2W1 nonsynonymous SNV CYP2W1:NM_017781:exon9:c.C1391T:p.P464L 0.0014 0.0015 0.0014 . 0.003 0.001 0.0051 0.0023 0.0031 0 0.0054 0.0069 0.0080 0.0036 0.0045 0.0021 0.0057 . . rs149976257 . . . . . . . . . . . . . 0.258 0.167 T 0.772 0.420 P 0.116 0.303 B 0.118 0.191 N 1 0.090 N 0.895 0.225 L -0.4 0.693 T -2.59 0.558 D 0.175 0.213 -0.822 0.538 T 0.190 0.542 T 0.045 0.619 D 1.574 0.251 13.71 0.975 0.340 0.075 0.134 N c -0.517 -0.623 1.000 0.747 0.676 0.548 0 2.47 0.290 0.685 0.249 0.780 0.314 0.000 0.063 0.004 0.083 6.931 0.235 . . . 0.0050 0.0012 0.0033 0.0033 5.893e-05 0.0041 0.0076 0.0056 0.0037 0.0048 0.0013 0.0024 0.0132 0 0.0052 0.0075 0.0020 het 452.25 34 7 1028376 . C T 452.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.482;DP=34;Dels=0.00;FS=3.211;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=0.577;QD=13.30;ReadPosRankSum=-0.927;VQSLOD=4.4350;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,20:34:99:482,0,357 7 1049749 1049749 C A exonic C7orf50 nonsynonymous SNV C7orf50:NM_001134395:exon3:c.G160T:p.A54S,C7orf50:NM_001134396:exon3:c.G160T:p.A54S,C7orf50:NM_001318252:exon3:c.G160T:p.A54S,C7orf50:NM_001350968:exon3:c.G160T:p.A54S,C7orf50:NM_001350969:exon3:c.G118T:p.A40S,C7orf50:NM_032350:exon3:c.G160T:p.A54S 0.0012 0.0015 0.0014 . 0.002 0.001 0.0043 0.0021 0.0026 0 0.0049 0.0056 0.0086 0.0033 0.0039 0.0023 0.0048 . . rs34458355 . . . . . . . . . . . . . 0.305 0.142 T 0.01 0.144 B 0.004 0.093 B 0.316 0.040 N 1 0.090 N 1.24 0.311 L . . . -0.15 0.093 N 0.1 0.207 -1.007 0.278 T 0.048 0.204 T 0.001 0.010 T -0.576 0.051 0.143 0.736 0.101 0.118 0.167 N c -1.154 -1.382 0.991 0.322 0.707 0.730 0 -5.26 0.025 -0.003 0.127 -0.488 0.053 0.000 0.063 0.000 0.016 0.405 0.004 . . . 0.0042 0.0012 0.0030 0.0001 0 0.0034 0.0064 0.0051 0.0034 0.0042 0.0010 0.0024 0 0 0.0049 0.0066 0.0020 het 636.24 52 7 1049749 . C A 636.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.077;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.38;MQ0=0;MQRankSum=-0.576;QD=12.24;ReadPosRankSum=1.858;VQSLOD=5.7167;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,26:52:99:666,0,629 7 1131394 1131394 G A exonic GPER1 synonymous SNV GPER1:NM_001098201:exon2:c.G30A:p.V10V,GPER1:NM_001505:exon2:c.G30A:p.V10V,GPER1:NM_001039966:exon3:c.G30A:p.V10V 0.08 0.022 0.11 0.07 0.11 0.12 0.0945 0.0349 0.0797 0.0434 0.0881 0.1084 0.1078 0.1321 0.085 0.033 0.11 0.033 0.11 rs34497267 COSM3762332 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0957 0.0324 0.0851 0.1465 0.0407 0.0850 0.1105 0.1135 0.1254 0.0824 0.0320 0.0788 0.1391 0.0475 0.0840 0.1141 0.0838 het 1388.67 116 7 1131394 . G A 1388.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.718;DP=116;Dels=0.00;FS=1.534;HRun=0;HaplotypeScore=4.6124;MQ=58.38;MQ0=0;MQRankSum=0.439;QD=11.97;ReadPosRankSum=1.783;VQSLOD=4.3832;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,58:116:99:1419,0,1481 7 1132153 1132153 G A exonic GPER1 synonymous SNV GPER1:NM_001098201:exon2:c.G789A:p.A263A,GPER1:NM_001505:exon2:c.G789A:p.A263A,GPER1:NM_001039966:exon3:c.G789A:p.A263A 0.11 0.029 0.14 0.11 0.18 0.15 0.1536 0.0491 0.1123 0.0753 0.1508 0.1867 0.1611 0.1558 0.14 0.048 0.19 0.087 0.15 rs3808352 COSM3762334 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1550 0.0460 0.1195 0.2395 0.0709 0.1465 0.1857 0.1768 0.1579 0.1343 0.0466 0.1110 0.2152 0.0790 0.1415 0.1889 0.1398 het 1068.26 76 7 1132153 . G A 1068.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.537;DP=76;Dels=0.00;FS=4.603;HRun=0;HaplotypeScore=5.7003;MQ=57.37;MQ0=0;MQRankSum=0.234;QD=14.06;ReadPosRankSum=0.130;VQSLOD=4.2056;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,38:76:99:1098,0,952 7 1481919 1481919 C A exonic MICALL2 synonymous SNV MICALL2:NM_182924:exon7:c.G1620T:p.A540A 0.99 1. 0.99 1. 0.97 1. 0.9845 0.9982 0.9907 1 0.9636 0.9775 0.9900 0.9993 0.99 1. 0.98 1. 0.98 rs4236408 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9842 0.9983 0.9866 0.9849 1 0.9654 0.9790 0.9779 0.9993 0.9821 0.9971 0.9761 0.9901 1 0.9616 0.9770 0.9735 hom 3764.22 109 7 1481919 . C A 3764.22 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=34.53;VQSLOD=9.3414;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3764,298,0 7 1608812 1608812 C G exonic PSMG3 nonsynonymous SNV PSMG3:NM_032302:exon1:c.G164C:p.S55T,PSMG3:NM_001134340:exon2:c.G164C:p.S55T 0.0028 0.0008 0.011 . 0.004 0.001 0.0061 0.0015 0.0061 0 0.0011 0.0083 0.0135 0.0051 0.0065 0.0009 0.0093 . . rs34407549 . . . . . . . . . . . . . 0.046 0.405 D 0.0 0.026 B 0.0 0.013 B 0.131 0.186 N 1 0.090 N 1.89 0.503 L . . . -1.06 0.277 N 0.05 0.040 -1.027 0.213 T 0.056 0.235 T . . . -1.075 0.029 0.011 0.504 0.043 0.142 0.181 N c -0.985 -1.051 1.000 0.747 0.767 0.994 0 -0.55 0.112 0.947 0.285 -0.320 0.077 0.251 0.246 0.017 0.128 5.261 0.148 . . . 0.0062 0.0009 0.0060 0.0117 0 0.0012 0.0083 0.0112 0.0060 0.0047 0.0009 0.0167 0.0132 0 0.0011 0.0073 0.0061 het 1580.29 148 7 1608812 . C G 1580.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.409;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7438;MQ=58.16;MQ0=0;MQRankSum=2.016;QD=10.68;ReadPosRankSum=0.961;VQSLOD=3.1051;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:84,63:148:99:1610,0,2176 7 1976457 1976457 C T exonic MAD1L1 nonsynonymous SNV MAD1L1:NM_001304525:exon2:c.G41A:p.R14H,MAD1L1:NM_001304524:exon15:c.G1397A:p.R466H,MAD1L1:NM_001304523:exon16:c.G1673A:p.R558H,MAD1L1:NM_001013836:exon17:c.G1673A:p.R558H,MAD1L1:NM_001013837:exon17:c.G1673A:p.R558H,MAD1L1:NM_003550:exon17:c.G1673A:p.R558H 0.3 0.029 0.44 0.45 0.39 0.35 0.4088 0.1229 0.5015 0.5224 0.4108 0.4232 0.3783 0.3688 0.27 0.093 0.37 0.23 0.26 rs1801368 COSM3762559 1(large_intestine) . . . . . . . . . . . 0.114 0.286 T 0.003 0.112 B 0.002 0.063 B 0.138 0.184 N 1 0.090 P 1.1 0.281 L 2.01 0.213 T -1.18 0.301 N 0.033 0.015 -0.910 0.469 T 0.000 0.000 T . . . 2.166 0.321 17.29 0.988 0.466 0.010 0.039 N c -0.910 -0.920 1.000 0.500 0.672 0.522 0 -0.002 0.133 -0.140 0.102 -0.312 0.078 0.001 0.137 0.014 0.122 8.212 0.305 . . . 0.3511 0.0785 0.4488 0.3050 0.4758 0.2989 0.3595 0.3392 0.3286 0.2800 0.0918 0.4248 0.2715 0.5105 0.2857 0.3522 0.3296 het 257.93 23 7 1976457 . C T 257.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.775;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7649;MQ=57.97;MQ0=0;MQRankSum=-0.465;QD=11.21;ReadPosRankSum=1.767;VQSLOD=4.5187;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,13:23:99:288,0,283 7 2297006 2297006 A G exonic SNX8 synonymous SNV SNX8:NM_013321:exon9:c.T1128C:p.I376I 0.91 0.97 0.9 0.8 0.97 0.87 0.9306 0.9727 0.8826 0.8187 0.9563 0.9605 0.9311 0.8696 0.97 0.97 0.96 0.94 0.86 rs6888 COSM4006689 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9280 0.9720 0.8873 0.9306 0.8160 0.9554 0.9632 0.9404 0.8698 0.9553 0.9739 0.9211 0.9238 0.8154 0.9616 0.9619 0.9358 hom 701.31 23 7 2297006 . A G 701.31 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.49;VQSLOD=13.1331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:66.15:734,66,0 7 2303986 2303986 T C exonic SNX8 synonymous SNV SNX8:NM_013321:exon6:c.A729G:p.A243A 0.84 0.74 0.88 0.8 0.97 0.87 0.9117 0.7652 0.8720 0.8161 0.9577 0.9584 0.9303 0.8737 0.9 0.78 0.96 0.79 0.91 rs2286206 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9127 0.7608 0.8766 0.9012 0.8134 0.9564 0.9622 0.9300 0.8733 0.8934 0.7611 0.8998 0.8841 0.8112 0.9616 0.9607 0.9267 hom 2892.27 99 7 2303986 . T C 2892.27 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.77;MQ0=0;QD=29.21;VQSLOD=7.5617;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2925,256,0 7 2406051 2406051 C T exonic EIF3B synonymous SNV EIF3B:NM_001037283:exon7:c.C1257T:p.H419H,EIF3B:NM_003751:exon7:c.C1257T:p.H419H 0.0012 . 0.0029 . 0.004 . 0.0045 0.0019 0.0025 0 0.0009 0.0067 0.0077 0.0021 0.0048 0.0027 0.0058 . . rs144904326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0041 0.0014 0.0029 0.0042 0 0.0008 0.0064 0.0051 0.0028 0.0028 0.0016 0.0024 0.0033 0 0.0009 0.0043 0.0041 het 1816.99 141 7 2406051 . C T 1816.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.764;DP=141;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5838;MQ=58.96;MQ0=0;MQRankSum=0.881;QD=12.89;ReadPosRankSum=0.749;VQSLOD=3.7195;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,67:141:99:1847,0,1955 7 2515382 2515382 - C exonic;splicing GRIFIN;GRIFIN NM_001291784:exon3:c.172+1->G unknown UNKNOWN . . . . . . 1.0000 1 1 1 1 1 1 0.9998 1. 1. 1. 0.21 . rs869152238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 432.79 11 7 2515382 . G GC 432.79 Mask AC=2;AF=1.00;AN=2;DP=11;FS=0.000;HRun=2;HaplotypeScore=22.8192;MQ=60.00;MQ0=0;QD=39.34;set=variant2 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:475,33,0 7 2577781 2577781 T C exonic BRAT1 synonymous SNV BRAT1:NM_001350627:exon13:c.A1863G:p.E621E,BRAT1:NM_001350626:exon14:c.A2568G:p.E856E,BRAT1:NM_152743:exon14:c.A2388G:p.E796E 0.46 0.74 0.41 0.37 0.35 0.34 0.3895 0.6759 0.4282 0.3627 0.4864 0.3481 0.4271 0.3321 0.44 0.64 0.33 0.49 0.43 rs1043291 COSM452894 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3869 0.6774 0.4298 0.2978 0.3595 0.4829 0.3443 0.3762 0.3291 0.4581 0.6659 0.4045 0.2550 0.3755 0.4777 0.3526 0.3949 het 937.91 67 7 2577781 . T C 937.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.665;DP=67;Dels=0.00;FS=3.413;HRun=0;HaplotypeScore=3.8909;MQ=59.72;MQ0=0;MQRankSum=0.164;QD=14.00;ReadPosRankSum=0.362;VQSLOD=5.8195;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,36:67:99:968,0,818 7 2578237 2578237 T C exonic BRAT1 synonymous SNV BRAT1:NM_001350627:exon13:c.A1407G:p.R469R,BRAT1:NM_001350626:exon14:c.A2112G:p.R704R,BRAT1:NM_152743:exon14:c.A1932G:p.R644R 0.46 0.73 0.41 0.37 0.35 0.34 0.3990 0.6838 0.4401 0.3745 0.5202 0.3619 0.4233 0.3307 0.35 0.61 0.22 0.41 0.28 rs4719552 COSM3750019 1(thyroid);11(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3873 0.6792 0.4318 0.3021 0.3622 0.4998 0.3495 0.3776 0.3298 0.4574 0.6631 0.4043 0.2567 0.3778 0.4779 0.3524 0.3949 het 286.37 32 7 2578237 . T C 286.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.304;DP=32;Dels=0.00;FS=1.542;HRun=1;HaplotypeScore=5.5177;MQ=56.44;MQ0=0;MQRankSum=0.507;QD=8.95;ReadPosRankSum=-0.385;VQSLOD=2.4624;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,13:32:99:316,0,516 7 2629729 2629729 G A exonic IQCE synonymous SNV IQCE:NM_001287501:exon12:c.G1038A:p.L346L,IQCE:NM_001287502:exon12:c.G1038A:p.L346L,IQCE:NM_001287500:exon13:c.G1185A:p.L395L,IQCE:NM_001287499:exon14:c.G1233A:p.L411L,IQCE:NM_152558:exon14:c.G1233A:p.L411L 0.02 0.0023 0.03 . 0.065 0.011 0.0442 0.0094 0.0234 0.0002 0.0598 0.0637 0.0657 0.0178 0.042 0.0099 0.057 0.043 0.016 rs61753096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0417 0.0074 0.0246 0.0623 0.0002 0.0594 0.0596 0.0488 0.0166 0.0373 0.0098 0.0312 0.0369 0 0.0536 0.0544 0.0329 het 415.05 34 7 2629729 . G A 415.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.980;DP=34;Dels=0.00;FS=3.393;HRun=0;HaplotypeScore=0.0000;MQ=57.55;MQ0=0;MQRankSum=-0.450;QD=12.21;ReadPosRankSum=0.594;VQSLOD=4.0539;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,18:34:99:445,0,461 7 2752152 2752152 G A exonic AMZ1 synonymous SNV AMZ1:NM_133463:exon7:c.G1137A:p.S379S 0.18 0.079 0.25 0.2 0.28 0.14 0.2549 0.1013 0.3095 0.1861 0.3835 0.2921 0.2519 0.1527 0.22 0.1 0.28 0.18 0.074 rs798565 COSM452924 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2573 0.0917 0.3066 0.2335 0.1836 0.3674 0.2875 0.2686 0.1489 0.2369 0.0918 0.2931 0.2417 0.1865 0.3746 0.2889 0.2762 het 244.62 24 7 2752152 . G A 244.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.196;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=1.083;QD=10.19;ReadPosRankSum=0.381;VQSLOD=6.5188;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,10:24:99:275,0,375 7 2854010 2854010 G A exonic GNA12 nonsynonymous SNV GNA12:NM_001282441:exon2:c.C68T:p.T23I 0.33 0.34 0.47 0.23 0.4 0.26 0.3999 0.3506 0.5320 0.2125 0.4588 0.4293 0.3770 0.2943 0.41 0.35 0.43 0.32 . rs2644275 . . . . . . . . . . . . . 0.002 0.721 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . -2.09 0.861 D -0.47 0.152 N 0.03 0.011 -1.017 0.246 T 0.000 0.000 T . . . -0.155 0.080 1.356 0.784 0.119 0.000 0.003 N c -1.444 -1.584 1.000 0.500 0.476 0.093 0 -1.31 0.087 -1.868 0.017 -0.661 0.040 0.000 0.063 0.000 0.016 6.590 0.217 . ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000146535.9|ENSG00000174945.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.4073 0.3548 0.5282 0.4373 0.2159 0.4612 0.4240 0.4237 0.2969 0.4058 0.3491 0.5012 0.4467 0.2142 0.4813 0.4351 0.4170 hom 2065.40 72 7 2854010 . G A 2065.40 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=58.63;MQ0=0;QD=28.69;VQSLOD=8.7414;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2098,162,0 7 2946461 2946461 T C exonic CARD11 synonymous SNV CARD11:NM_032415:exon25:c.A3276G:p.R1092R,CARD11:NM_001324281:exon26:c.A3276G:p.R1092R 0.6 0.7 0.53 0.65 0.47 0.57 0.5163 0.6707 0.4885 0.6473 0.4274 0.4793 0.4748 0.5525 0.55 0.66 0.49 0.61 0.48 rs1124581 COSM3762618 15(soft_tissue);2(large_intestine) Benign not_specified RCV000455366.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5090 0.6641 0.4962 0.4605 0.6438 0.4149 0.4836 0.4752 0.5504 0.5349 0.6721 0.4880 0.4040 0.6410 0.4029 0.4826 0.4868 het 442.15 50 7 2946461 . T C 442.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.024;DP=50;Dels=0.00;FS=4.732;HRun=1;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-1.695;QD=8.84;ReadPosRankSum=-1.487;VQSLOD=4.4452;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,16:50:99:472,0,912 7 2954962 2954962 G A exonic CARD11 synonymous SNV CARD11:NM_032415:exon21:c.C2748T:p.N916N,CARD11:NM_001324281:exon22:c.C2748T:p.N916N 0.024 0.0015 0.11 0.001 0.027 0.018 0.0420 0.0097 0.1375 0 0.0466 0.0402 0.0312 0.0231 0.03 0.012 0.039 0.033 0.016 rs61731201 COSM5019435 1(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0459 0.0089 0.1290 0.0389 0.0001 0.0484 0.0394 0.0478 0.0229 0.0370 0.0105 0.1062 0.0430 0 0.0499 0.0484 0.0541 het 851.20 65 7 2954962 . G A 851.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.339;DP=65;Dels=0.00;FS=3.541;HRun=0;HaplotypeScore=4.7207;MQ=57.98;MQ0=0;MQRankSum=-1.735;QD=13.10;ReadPosRankSum=1.313;VQSLOD=3.4361;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,36:65:99:881,0,702 7 2957005 2957005 T C exonic CARD11 synonymous SNV CARD11:NM_032415:exon20:c.A2622G:p.P874P,CARD11:NM_001324281:exon21:c.A2622G:p.P874P 0.46 0.58 0.42 0.61 0.21 0.45 0.3154 0.5390 0.4233 0.6195 0.1648 0.2156 0.3127 0.3953 0.32 0.53 0.21 0.43 0.26 rs3735124 COSM5019288 10(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3058 0.5396 0.4037 0.2782 0.6252 0.1544 0.2089 0.2833 0.3818 0.3181 0.5336 0.3842 0.2649 0.6351 0.1469 0.2008 0.2444 het 117.47 10 7 2957005 . T C 117.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DP=10;Dels=0.00;FS=2.808;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=11.75;ReadPosRankSum=-0.361;VQSLOD=6.5495;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:147,0,99 7 2969680 2969680 G A exonic CARD11 synonymous SNV CARD11:NM_032415:exon12:c.C1599T:p.D533D,CARD11:NM_001324281:exon13:c.C1599T:p.D533D 0.1 0.038 0.18 0.013 0.24 0.088 0.1879 0.0695 0.2536 0.0074 0.2778 0.2262 0.2273 0.1183 0.17 0.075 0.22 0.11 0.18 rs1621509 COSM5019059 8(soft_tissue) Benign not_specified RCV000455640.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1912 0.0694 0.2403 0.1739 0.0055 0.2799 0.2250 0.2030 0.1189 0.1820 0.0782 0.2321 0.1887 0.0049 0.2924 0.2304 0.2218 het 1055.51 71 7 2969680 . G A 1055.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.692;DP=71;Dels=0.00;FS=2.097;HRun=0;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=0.894;QD=14.87;ReadPosRankSum=0.548;VQSLOD=6.3017;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,42:71:99:1085,0,728 7 4116665 4116665 G A exonic SDK1 nonsynonymous SNV SDK1:NM_152744:exon21:c.G3046A:p.D1016N 0.25 0.33 0.18 0.075 0.28 0.36 0.2681 0.3349 0.1557 0.0778 0.2663 0.2822 0.2770 0.3472 0.3 0.33 0.28 0.25 0.31 rs11978101 . . . . . . . . . . . . . 0.781 0.034 T 0.004 0.422 B 0.002 0.338 B 0.116 0.192 N 1 0.090 P 0.09 0.084 N 0.37 0.577 T -0.76 0.212 N 0.02 0.017 -0.994 0.316 T 0.000 0.000 T . . . 0.121 0.105 3.835 0.153 0.004 0.288 0.234 N c -0.852 -0.805 0.015 0.126 0.638 0.428 0 1.48 0.218 1.320 0.331 1.048 0.713 0.038 0.207 0.227 0.223 5.766 0.174 Fibronectin type III|Immunoglobulin-like fold . . 0.2605 0.3340 0.1651 0.2709 0.0767 0.2652 0.2820 0.2569 0.3467 0.2816 0.3427 0.1969 0.2715 0.0728 0.2467 0.2829 0.2648 het 1583.64 136 7 4116665 . G A 1583.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.332;DP=136;Dels=0.00;FS=3.281;HRun=1;HaplotypeScore=6.0845;MQ=58.87;MQ0=0;MQRankSum=-0.775;QD=11.64;ReadPosRankSum=0.151;VQSLOD=4.8089;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,65:136:99:1614,0,1575 7 4172006 4172006 C T exonic SDK1 synonymous SNV SDK1:NM_152744:exon28:c.C4179T:p.S1393S 0.24 0.11 0.31 0.099 0.39 0.39 0.3703 0.1477 0.3026 0.1200 0.4130 0.4356 0.3756 0.3988 0.32 0.14 0.41 0.17 0.36 rs13224870 COSM3762664 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3576 0.1311 0.2956 0.4717 0.1148 0.3890 0.4200 0.3918 0.3832 0.3220 0.1367 0.3162 0.5298 0.1054 0.3978 0.4295 0.3582 het 778.85 51 7 4172006 . C T 778.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.263;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=58.35;MQ0=0;MQRankSum=1.388;QD=15.27;ReadPosRankSum=0.660;VQSLOD=6.3283;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,30:51:99:809,0,507 7 4189075 4189075 G C exonic SDK1 synonymous SNV SDK1:NM_001079653:exon4:c.G66C:p.A22A,SDK1:NM_152744:exon30:c.G4605C:p.A1535A 0.79 0.96 0.77 0.78 0.69 0.66 0.7590 0.9345 0.8257 0.7597 0.7835 0.7246 0.7546 0.7237 0.77 0.93 0.69 0.83 0.68 rs659182 COSM3762665 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7462 0.9415 0.8143 0.742 0.7584 0.7469 0.7107 0.7332 0.6977 0.7894 0.9303 0.7745 0.7285 0.7537 0.7428 0.7275 0.7363 hom 495.97 17 7 4189075 . G C 495.97 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.17;VQSLOD=12.9027;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.12:529,42,0 7 4213877 4213877 T C exonic SDK1 synonymous SNV SDK1:NM_001079653:exon7:c.T285C:p.N95N,SDK1:NM_152744:exon33:c.T4824C:p.N1608N 0.67 0.6 0.7 0.76 0.66 0.67 0.6836 0.6157 0.7955 0.7563 0.7072 0.6626 0.6927 0.6844 0.64 0.62 0.65 0.6 0.62 rs601424 COSM4162207 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6892 0.6186 0.7848 0.7366 0.7584 0.6950 0.6560 0.6795 0.6838 0.6666 0.6183 0.7458 0.7450 0.7608 0.6815 0.6751 0.6667 hom 8064.82 250 7 4213877 . T C 8064.82 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7528;MQ=59.37;MQ0=0;QD=32.26;VQSLOD=8.5479;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8063,677,0 7 4213940 4213940 T C exonic SDK1 synonymous SNV SDK1:NM_001079653:exon7:c.T348C:p.T116T,SDK1:NM_152744:exon33:c.T4887C:p.T1629T 0.67 0.58 0.69 0.77 0.66 0.68 0.6817 0.5972 0.7931 0.7561 0.7086 0.6619 0.6971 0.6865 0.63 0.61 0.64 0.6 0.64 rs671756 COSM4418937 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6879 0.6008 0.7836 0.7361 0.7583 0.6968 0.6551 0.6806 0.6854 0.6611 0.6006 0.7470 0.7450 0.7596 0.6847 0.6732 0.6650 hom 7802.73 250 7 4213940 . T C 7802.73 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7077;MQ=59.33;MQ0=0;QD=31.21;VQSLOD=8.0297;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7801,671,0 7 4213975 4213975 A G exonic SDK1 nonsynonymous SNV SDK1:NM_001079653:exon7:c.A383G:p.H128R,SDK1:NM_152744:exon33:c.A4922G:p.H1641R 0.8 0.98 0.78 0.76 0.73 0.68 0.7525 0.9488 0.8335 0.7565 0.7499 0.7207 0.7445 0.6998 0.79 0.94 0.71 0.84 0.78 rs671694 COSM4418665 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.649 0.049 T 0.0 0.026 B 0.0 0.040 B 0.001 0.404 N 1.000 0.182 P -2.045 0.002 N 0.23 0.597 T 1.66 0.008 N 0.28 0.339 -0.963 0.385 T 0.000 0.000 T . . . -0.369 0.064 0.460 0.385 0.026 0.015 0.049 N c -1.122 -0.908 0.924 0.267 0.646 0.450 0 4.91 0.638 3.467 0.526 0.138 0.222 0.997 0.399 0.004 0.083 11.761 0.510 Fibronectin type III|Immunoglobulin-like fold . . 0.7519 0.9546 0.8261 0.7594 0.7587 0.7419 0.7167 0.7441 0.7004 0.7976 0.9457 0.7971 0.7682 0.7617 0.7335 0.7342 0.7444 hom 8034.70 248 7 4213975 . A G 8034.70 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6828;MQ=59.59;MQ0=0;QD=32.40;VQSLOD=9.2901;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,247:248:99:8033,662,0 7 4308362 4308362 C T exonic SDK1 nonsynonymous SNV SDK1:NM_001079653:exon20:c.C2020T:p.R674C 0.12 0.043 0.18 0.11 0.25 0.065 0.1792 0.0593 0.1685 0.1132 0.3491 0.2121 0.2024 0.0912 0.16 0.058 0.21 0.098 0.2 rs8514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1846 0.0616 0.1681 0.2213 0.1107 0.3410 0.2074 0.2098 0.0929 0.1866 0.0615 0.2064 0.2318 0.1017 0.3374 0.2281 0.2398 het 2837.40 229 7 4308362 . C T 2837.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.895;DP=229;DS;Dels=0.00;FS=2.300;HRun=0;HaplotypeScore=6.9775;MQ=59.66;MQ0=0;MQRankSum=-0.606;QD=12.39;ReadPosRankSum=1.637;VQSLOD=3.9257;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,103:229:99:2867,0,3187 7 4780514 4780514 G T exonic FOXK1 synonymous SNV FOXK1:NM_001037165:exon2:c.G606T:p.T202T 0.57 0.32 0.56 0.85 0.48 0.7 0.5391 0.3403 0.6082 0.8307 0.5919 0.4871 0.5297 0.6525 0.43 0.34 0.47 0.52 0.34 rs3087749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5391 0.3299 0.6020 0.3760 0.8217 0.5961 0.4846 0.5094 0.6470 0.4777 0.3409 0.5658 0.3742 0.8088 0.5860 0.4886 0.5534 hom 7542.77 223 7 4780514 . G T 7542.77 Mask AC=2;AF=1.00;AN=2;DP=223;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9925;MQ=59.44;MQ0=0;QD=33.82;VQSLOD=8.0329;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:7542,614,0 7 4841470 4841470 T C exonic RADIL nonsynonymous SNV RADIL:NM_018059:exon12:c.A2656G:p.S886G 1. 1. 0.99 1. 0.99 1. 0.9946 0.9978 0.9929 1 0.9985 0.9919 1 0.9998 0.99 1. 0.99 0.98 0.53 rs414035 COSM3762722 1(large_intestine) . . . . . . . . . . . 0.527 0.071 T 0.0 0.026 B 0.0 0.040 B 0.863 0.071 N 1 0.202 P 0.255 0.098 N 3.34 0.061 T -0.61 0.181 N 0.033 0.013 -0.966 0.380 T 0.000 0.000 T . . . -1.874 0.010 0.002 0.295 0.016 0.002 0.010 N c -2.205 -2.085 0.001 0.078 0.646 0.450 0 0.203 0.144 -0.269 0.086 -1.892 0.006 0.011 0.184 0.000 0.016 12.429 0.547 . . . 0.9944 0.9981 0.9929 0.9895 1 0.9983 0.9917 0.9900 0.9998 0.9951 0.9984 0.9928 0.9801 1 0.9977 0.9924 0.9969 hom 371.67 16 7 4841470 . T C 371.67 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.23;VQSLOD=11.6307;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:33.10:405,33,0 7 4876057 4876057 C T exonic RADIL nonsynonymous SNV RADIL:NM_018059:exon3:c.G715A:p.D239N 0.25 0.04 0.29 0.33 0.29 0.4 0.4143 0.1348 0.4280 0.4594 0.4671 0.4339 0.3860 0.4188 0.23 0.074 0.31 0.22 0.15 rs3763384 COSM3762728 1(large_intestine) . . . . . . . . . . . 0.229 0.183 T 0.688 0.396 P 0.059 0.252 B 0.195 0.167 N 1 0.588 P 2.585 0.758 M 3.27 0.066 T -0.96 0.255 N 0.044 0.024 -0.926 0.447 T 0.000 0.000 T . . . 0.763 0.167 9.236 0.992 0.562 0.069 0.128 N c -0.534 -0.563 0.077 0.158 0.646 0.450 0 4.85 0.622 0.788 0.263 0.932 0.445 0.020 0.195 0.007 0.100 10.785 0.454 . ENSG00000157927.12 Muscle_Skeletal 0.3090 0.0765 0.2718 0.2953 0.3562 0.3176 0.3252 0.2980 0.3697 0.2503 0.0774 0.2578 0.2815 0.3630 0.3162 0.3177 0.3224 het 173.05 21 7 4876057 . C T 173.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DP=21;Dels=0.00;FS=1.922;HRun=1;HaplotypeScore=0.0000;MQ=56.35;MQ0=0;MQRankSum=0.485;QD=8.24;ReadPosRankSum=-0.261;VQSLOD=3.5375;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,7:21:99:203,0,337 7 4900095 4900095 A G exonic PAPOLB synonymous SNV PAPOLB:NM_020144:exon1:c.T1347C:p.N449N 0.45 0.55 0.36 0.41 0.34 0.54 0.4069 0.5339 0.3290 0.4376 0.2987 0.3821 0.3861 0.5143 0.43 0.52 0.39 0.45 . rs1553960 COSM150227;COSM3762729 1(stomach);1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4007 0.5408 0.3324 0.3907 0.4442 0.3043 0.3856 0.3787 0.5126 0.4149 0.5388 0.3313 0.4073 0.4391 0.2975 0.3744 0.3824 het 1594.11 125 7 4900095 . A G 1594.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.908;DP=125;Dels=0.00;FS=1.634;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=0.676;QD=12.75;ReadPosRankSum=-0.097;VQSLOD=6.7794;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,58:125:99:1624,0,1971 7 4900341 4900341 G A exonic PAPOLB synonymous SNV PAPOLB:NM_020144:exon1:c.C1101T:p.S367S 0.24 0.033 0.26 0.31 0.25 0.4 0.2683 0.0594 0.2567 0.3267 0.2327 0.2737 0.2852 0.3654 0.2 0.064 0.27 0.2 . rs17135247 COSM3762730;COSM3762731 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2696 0.0560 0.2564 0.3201 0.3262 0.2367 0.2706 0.2670 0.3625 0.2049 0.0623 0.2512 0.3245 0.3362 0.2314 0.2588 0.2622 het 1467.77 128 7 4900341 . G A 1467.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.382;DP=128;Dels=0.00;FS=3.235;HRun=2;HaplotypeScore=2.8189;MQ=59.82;MQ0=0;MQRankSum=0.634;QD=11.47;ReadPosRankSum=-0.524;VQSLOD=6.1997;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,58:128:99:1498,0,2023 7 4901385 4901385 A C exonic PAPOLB nonsynonymous SNV PAPOLB:NM_020144:exon1:c.T57G:p.N19K 0.49 0.71 0.37 0.41 0.34 0.54 0.4737 0.6887 0.4098 0.4866 0.3612 0.4425 0.4611 0.5792 0.47 0.63 0.39 0.45 . rs3750009 COSM4997946;COSM4997947 1(pancreas) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 0.000 0.588 P -2.855 0.000 N . . . . . . 0.025 0.007 -0.948 0.414 T 0.000 0.000 T . . . -1.473 0.017 0.003 0.387 0.026 0.059 0.118 N c -1.341 -1.126 0.999 0.379 0.542 0.217 1 3.25 0.362 0.886 0.277 0.067 0.174 1.000 0.715 0.011 0.114 3.843 0.084 . ENSG00000157927.12|ENSG00000218823.1 Muscle_Skeletal|Testis 0.4122 0.6716 0.3443 0.3912 0.4443 0.3075 0.3866 0.3857 0.5161 0.4502 0.6620 0.3409 0.4167 0.4395 0.2960 0.3749 0.3910 hom 690.23 23 7 4901385 . A C 690.23 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7990;MQ=57.97;MQ0=0;QD=30.01;VQSLOD=7.6753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:23:57.17:723,57,0 7 4959807 4959807 G A exonic MMD2 synonymous SNV MMD2:NM_001100600:exon3:c.C285T:p.H95H,MMD2:NM_001270375:exon3:c.C285T:p.H95H,MMD2:NM_198403:exon3:c.C285T:p.H95H 0.44 0.62 0.6 0.3 0.41 0.28 0.4594 0.6172 0.6633 0.4135 0.6191 0.4914 0.4530 0.3202 0.46 0.56 0.41 0.47 . rs932061 COSM3762732;COSM3762733 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4247 0.5843 0.5932 0.4387 0.2908 0.4333 0.3988 0.4296 0.3126 0.4456 0.5965 0.5397 0.4291 0.2768 0.4369 0.3764 0.3957 het 218.75 11 7 4959807 . G A 218.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.566;QD=19.89;ReadPosRankSum=0.382;VQSLOD=12.8958;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,8:11:84.06:249,0,84 7 5105133 5105133 C T exonic RBAK synonymous SNV RBAK:NM_021163:exon5:c.C2046T:p.N682N,RBAK:NM_001204456:exon6:c.C2046T:p.N682N 0.58 0.75 0.42 0.55 0.51 0.54 0.5211 0.7299 0.3715 0.5850 0.5727 0.4985 0.5511 0.5305 0.57 0.72 0.5 0.58 0.52 rs12334144 COSM1451372 1(oesophagus);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5135 0.7333 0.3816 0.5407 0.5899 0.5771 0.4914 0.5213 0.5257 0.5693 0.7313 0.4055 0.5795 0.5825 0.5718 0.4830 0.5533 het 1265.54 102 7 5105133 . C T 1265.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.339;DP=102;Dels=0.00;FS=0.756;HRun=0;HaplotypeScore=10.9414;MQ=58.69;MQ0=0;MQRankSum=0.344;QD=12.41;ReadPosRankSum=1.161;VQSLOD=3.7216;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,47:102:99:1296,0,1293 7 5254227 5254227 C G exonic WIPI2 synonymous SNV WIPI2:NM_001033520:exon1:c.C96G:p.V32V,WIPI2:NM_001033519:exon3:c.C219G:p.V73V,WIPI2:NM_016003:exon3:c.C219G:p.V73V,WIPI2:NM_001033518:exon4:c.C273G:p.V91V,WIPI2:NM_015610:exon4:c.C273G:p.V91V 0.99 1. 0.99 1. 0.98 1. 0.9866 0.9971 0.9943 1 0.9693 0.9817 0.9824 0.9944 0.99 1. 0.98 1. 0.98 rs4587243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9870 0.9978 0.9940 0.9984 1 0.9704 0.9819 0.9851 0.9945 0.9804 0.9976 0.9976 1 1 0.9693 0.9698 0.9766 hom 7429.72 216 7 5254227 . C G 7429.72 Mask AC=2;AF=1.00;AN=2;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8884;MQ=59.65;MQ0=0;QD=34.40;VQSLOD=8.6955;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:7429,581,0 7 5391702 5391702 C G exonic TNRC18 nonsynonymous SNV TNRC18:NM_001080495:exon17:c.G5218C:p.E1740Q 0.19 0.25 0.18 0.062 0.21 0.21 0.1936 0.2674 0.1925 0.0541 0.2367 0.1861 0.2258 0.2335 0.19 0.25 0.17 0.22 . rs3801048 COSM3762753;COSM3762754;COSM3762755 1(large_intestine) . . . . . . . . . . . 0.009 0.574 D 0.001 0.201 B 0.005 0.166 B 0.917 0.085 N 1.000 0.205 P 1.385 0.346 L 2.64 0.481 T -1.2 0.324 N 0.156 0.186 -1.048 0.150 T 0.000 0.000 T . . . 1.207 0.211 11.78 0.990 0.506 0.889 0.487 D c -0.417 -0.348 1.000 0.747 0.719 0.830 0 4.0 0.455 2.894 0.481 0.935 0.490 0.749 0.289 0.991 0.552 14.798 0.694 . . . 0.1784 0.2482 0.1725 0.1808 0.0467 0.2171 0.1717 0.1714 0.2209 0.1929 0.2481 0.1683 0.1689 0.0364 0.2262 0.1726 0.1806 het 270.49 22 7 5391702 . C G 270.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.099;DP=22;Dels=0.00;FS=15.092;HRun=0;HaplotypeScore=0.9987;MQ=60.00;MQ0=0;MQRankSum=-0.560;QD=12.29;ReadPosRankSum=-0.824;VQSLOD=3.1437;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,10:22:99:300,0,349 7 5399044 5399044 C G exonic TNRC18 synonymous SNV TNRC18:NM_001080495:exon15:c.G4818C:p.S1606S 0.26 0.25 0.25 0.28 0.26 0.23 0.2843 0.2572 0.3424 0.2496 0.3355 0.2809 0.2811 0.2711 0.28 0.25 0.29 0.3 . rs12531309 COSM3762758;COSM3762756;COSM3762757 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2857 0.2513 0.3358 0.2037 0.2487 0.3246 0.2854 0.2688 0.2713 0.2855 0.2593 0.2995 0.1987 0.2426 0.3304 0.2946 0.3033 het 2573.94 250 7 5399044 . C G 2573.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.547;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.3901;MQ=58.11;MQ0=0;MQRankSum=1.442;QD=10.30;ReadPosRankSum=0.424;VQSLOD=2.7644;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:2604,0,3771 7 5410425 5410425 G C exonic TNRC18 nonsynonymous SNV TNRC18:NM_001080495:exon11:c.C3800G:p.A1267G 0.34 0.059 0.49 0.42 0.42 0.47 0.4666 0.1371 0.6058 0.4410 0.4333 0.4702 0.4027 0.5238 0.34 0.12 0.44 0.26 . rs12671708 COSM3762761;COSM3762760;COSM3762759 2(large_intestine) . . . . . . . . . . . 0.317 0.137 T 0.0 0.026 B 0.001 0.040 B 0.686 0.102 N 1 0.090 P 1.245 0.315 L 2.75 0.116 T -0.55 0.168 N 0.04 0.020 -0.936 0.433 T 0.000 0.000 T . . . 0.343 0.127 6.097 0.654 0.075 0.062 0.121 N c -1.152 -1.183 0.045 0.147 0.707 0.730 0 -0.141 0.127 -0.016 0.124 -0.605 0.044 0.002 0.151 0.004 0.083 6.861 0.231 . . . 0.4392 0.1077 0.5591 0.2896 0.4105 0.3798 0.4562 0.4085 0.504 0.3464 0.1138 0.5241 0.2781 0.4209 0.3793 0.4529 0.4237 het 235.20 15 7 5410425 . G C 235.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.333;DP=15;Dels=0.00;FS=2.363;HRun=2;HaplotypeScore=0.6651;MQ=58.45;MQ0=0;MQRankSum=-1.467;QD=15.68;ReadPosRankSum=0.400;VQSLOD=4.0959;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,9:15:99:265,0,100 7 5434135 5434135 A G exonic TNRC18 synonymous SNV TNRC18:NM_001080495:exon3:c.T279C:p.S93S 0.92 0.99 0.88 1. 0.78 0.94 0.8332 0.9602 0.8986 0.9987 0.7554 0.7584 0.8191 0.9167 0.84 0.96 0.78 0.96 . rs4724668 COSM4162310;COSM4162309 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8268 0.9663 0.8871 0.6508 0.9995 0.7724 0.7653 0.7993 0.9175 0.8457 0.9646 0.8699 0.6533 0.9994 0.7711 0.7821 0.8075 het 127.82 15 7 5434135 . A G 127.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;MQRankSum=-0.289;QD=8.52;ReadPosRankSum=-0.521;VQSLOD=6.1335;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,7:15:99:158,0,237 7 5521468 5521468 G A exonic FBXL18 synonymous SNV FBXL18:NM_024963:exon5:c.C2095T:p.L699L 0.15 0.13 0.18 0.039 0.13 0.28 0.1477 0.1408 0.2358 0.0465 0.1066 0.1253 0.1413 0.2502 0.13 0.14 0.13 0.15 0.098 rs10951956 COSM3762770 1(breast);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . . . . . . -1.029 0.208 T 0.001 0.002 T . . . 1.061 0.196 11.00 0.890 0.179 0.909 0.521 D c 0.335 0.386 1.000 0.500 0.718 0.821 0 3.93 0.445 4.535 0.601 0.933 0.449 1.000 0.715 1.000 0.888 5.422 0.156 . . . 0.1505 0.1420 0.2301 0.0748 0.0493 0.1122 0.1303 0.1407 0.2499 0.1348 0.1488 0.1782 0.1225 0.0499 0.1208 0.1373 0.1288 het 2459.53 217 7 5521468 . G A 2459.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.734;DP=217;Dels=0.00;FS=3.131;HRun=1;HaplotypeScore=3.6207;MQ=58.84;MQ0=1;MQRankSum=-0.001;QD=11.33;ReadPosRankSum=1.182;VQSLOD=5.7588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:122,95:217:99:2490,0,3552 7 5530954 5530954 G A exonic FBXL18 synonymous SNV FBXL18:NM_001321213:exon4:c.C1908T:p.F636F,FBXL18:NM_024963:exon4:c.C1908T:p.F636F 0.18 0.27 0.21 0.038 0.14 0.23 0.1703 0.2912 0.2639 0.0530 0.1433 0.1380 0.1616 0.2351 0.17 0.25 0.13 0.22 0.11 rs11975313 COSM3762775;COSM3762774 1(breast);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . . . . . . -1.050 0.144 T 0.000 0.000 T . . . 0.543 0.146 7.752 0.745 0.104 0.940 0.594 D c 0.027 0.028 1.000 0.747 0.660 0.495 0 4.01 0.457 3.384 0.520 0.143 0.228 1.000 0.715 0.955 0.433 8.096 0.298 . . . 0.1583 0.2710 0.2388 0.0765 0.0504 0.1223 0.1332 0.1448 0.2210 0.1734 0.2713 0.1933 0.1192 0.0518 0.1319 0.1418 0.1339 het 271.22 33 7 5530954 . G A 271.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.805;DP=33;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8313;MQ=58.29;MQ0=0;MQRankSum=0.094;QD=8.22;ReadPosRankSum=0.617;VQSLOD=5.4986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,12:33:99:301,0,602 7 5540244 5540244 A C exonic FBXL18 nonsynonymous SNV FBXL18:NM_001321213:exon3:c.T1656G:p.N552K,FBXL18:NM_024963:exon3:c.T1656G:p.N552K 0.0038 0.0015 0.0043 . 0.014 . 0.0121 0.0053 0.0051 0 0.0103 0.0185 0.0131 0.0030 0.015 0.0048 0.02 . 0.0082 rs33941092 . . . . . . . . . . . . . 0.027 0.465 D 0.004 0.112 B 0.006 0.112 B 0.000 0.523 D 1.000 0.209 N 0 0.065 N 0.88 0.460 T -1.31 0.328 N 0.04 0.213 -1.036 0.186 T 0.044 0.187 T . . . 1.272 0.218 12.13 0.992 0.537 0.795 0.391 D c -0.145 -0.050 0.969 0.291 0.696 0.567 0 3.17 0.354 3.812 0.551 -0.545 0.048 1.000 0.715 0.970 0.461 11.873 0.516 Leucine-rich repeat domain\x2c L domain-like . . 0.0120 0.0047 0.0060 0.0264 0 0.0104 0.0181 0.0121 0.0034 0.0114 0.0044 0.0095 0.0464 0 0.0097 0.0169 0.0061 het 866.78 60 7 5540244 . A C 866.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.293;DP=60;Dels=0.00;FS=1.219;HRun=0;HaplotypeScore=1.7878;MQ=59.62;MQ0=0;MQRankSum=-0.222;QD=14.45;ReadPosRankSum=-0.207;VQSLOD=6.4481;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,31:60:99:897,0,778 7 5540769 5540769 A C exonic FBXL18 synonymous SNV FBXL18:NM_001321213:exon3:c.T1131G:p.T377T,FBXL18:NM_024963:exon3:c.T1131G:p.T377T 0.94 1. 0.9 0.93 0.93 0.94 0.9119 0.9788 0.8390 0.9222 0.9347 0.9033 0.9387 0.9434 0.93 0.98 0.9 0.2 0.7 rs6953642 COSM3762777;COSM3762776 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9092 0.9789 0.8465 0.9130 0.9218 0.9330 0.9014 0.9182 0.9445 0.9267 0.9765 0.8762 0.8940 0.9177 0.9384 0.9004 0.9114 hom 1032.16 36 7 5540769 . A C 1032.16 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3999;MQ=57.95;MQ0=0;QD=28.67;VQSLOD=7.1471;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.21:1065,93,0 7 5541009 5541009 C A exonic FBXL18 synonymous SNV FBXL18:NM_001321213:exon3:c.G891T:p.L297L,FBXL18:NM_024963:exon3:c.G891T:p.L297L 0.17 0.24 0.19 0.031 0.13 0.23 0.1478 0.2424 0.2381 0.0414 0.1143 0.1192 0.1469 0.2124 0.16 0.23 0.12 0.22 0.12 rs12667381 COSM3762778;COSM3762780;COSM3762779 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1491 0.2432 0.2343 0.0803 0.0432 0.1171 0.1224 0.1330 0.2135 0.1582 0.2456 0.1897 0.1192 0.0390 0.1206 0.1303 0.1263 het 715.24 45 7 5541009 . C A 715.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.438;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8308;MQ=59.17;MQ0=0;MQRankSum=1.108;QD=15.89;ReadPosRankSum=1.793;VQSLOD=5.7393;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,25:45:99:745,0,478 7 5541657 5541657 G A exonic FBXL18 synonymous SNV FBXL18:NM_001321213:exon3:c.C243T:p.S81S,FBXL18:NM_024963:exon3:c.C243T:p.S81S 0.71 0.83 0.6 0.74 0.65 0.65 0.6854 0.8314 0.5927 0.7577 0.6565 0.6710 0.6591 0.6729 0.69 0.82 0.63 0.75 0.57 rs4724704 COSM4162317;COSM4162318 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6283 0.8206 0.5372 0.6027 0.7263 0.5876 0.6255 0.6123 0.6314 0.6740 0.8129 0.5442 0.6 0.7179 0.5902 0.6204 0.6150 hom 594.85 21 7 5541657 . G A 594.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.569;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.248;QD=28.33;ReadPosRankSum=0.743;VQSLOD=13.6924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,20:21:33.47:628,33,0 7 5643145 5643145 T C exonic FSCN1 synonymous SNV FSCN1:NM_003088:exon3:c.T1008C:p.F336F 0.24 0.32 0.22 0.18 0.17 0.28 0.2015 0.2995 0.1434 0.1456 0.1808 0.1862 0.2069 0.2796 0.22 0.29 0.18 0.23 0.18 rs1640233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1968 0.3035 0.1461 0.2157 0.1447 0.1837 0.1834 0.1943 0.2804 0.2135 0.2994 0.1671 0.2119 0.1352 0.1777 0.1845 0.1902 het 978.30 103 7 5643145 . T C 978.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.634;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2426;MQ=58.90;MQ0=0;MQRankSum=-0.254;QD=9.50;ReadPosRankSum=-0.294;VQSLOD=5.3171;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,40:103:99:1008,0,1849 7 6026775 6026775 T C exonic PMS2 nonsynonymous SNV PMS2:NM_001322008:exon9:c.A1303G:p.K435E,PMS2:NM_001322010:exon9:c.A1060G:p.K354E,PMS2:NM_001322004:exon10:c.A1216G:p.K406E,PMS2:NM_001322006:exon10:c.A1465G:p.K489E,PMS2:NM_001322007:exon10:c.A1303G:p.K435E,PMS2:NM_001322013:exon10:c.A1048G:p.K350E,PMS2:NM_000535:exon11:c.A1621G:p.K541E,PMS2:NM_001322003:exon11:c.A1216G:p.K406E,PMS2:NM_001322005:exon11:c.A1216G:p.K406E,PMS2:NM_001322009:exon11:c.A1216G:p.K406E,PMS2:NM_001322011:exon11:c.A688G:p.K230E,PMS2:NM_001322012:exon11:c.A688G:p.K230E,PMS2:NM_001322014:exon11:c.A1621G:p.K541E,PMS2:NM_001322015:exon11:c.A1312G:p.K438E 0.88 0.94 0.77 0.88 0.88 0.89 0.8514 0.9229 0.6563 0.9238 0.8432 0.8550 0.8381 0.8961 0.87 0.92 0.85 0.89 0.85 rs2228006 COSM4162329 1(thyroid) Benign|Benign|Benign\x2cBenign Lynch_syndrome|not_provided|not_specified\x2cnot_specified RCV000030365.3|RCV000034619.3|RCV000212862.1\x2cRCV000121840.3 MedGen:Orphanet:SNOMED_CT|MedGen|MedGen\x2cMedGen C1333990:ORPHA144:315058005|CN221809|CN169374\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.497 0.120 N 1 0.275 P -1.87 0.003 N 1.0 0.414 T 0.76 0.020 N 0.101 0.414 -0.949 0.412 T 0.000 0.000 T . . . -0.586 0.051 0.135 0.220 0.009 0.001 0.004 N c -1.319 -1.166 0.046 0.147 0.707 0.730 0 4.66 0.577 1.502 0.351 0.014 0.141 0.009 0.180 0.013 0.120 10.569 0.442 . ENSG00000086232.8 Muscle_Skeletal 0.8407 0.9259 0.6676 0.8895 0.9235 0.8392 0.8499 0.8318 0.8954 0.8722 0.9248 0.7213 0.8974 0.9202 0.8447 0.8522 0.8507 hom 6459.61 221 7 6026775 . T C 6459.61 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.202;DP=221;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8490;MQ=45.80;MQ0=11;MQRankSum=-1.699;QD=29.23;ReadPosRankSum=1.102;VQSLOD=2.7483;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,220:221:99:6423,506,0 7 6026988 6026988 G A exonic PMS2 nonsynonymous SNV PMS2:NM_001322008:exon9:c.C1090T:p.P364S,PMS2:NM_001322010:exon9:c.C847T:p.P283S,PMS2:NM_001322004:exon10:c.C1003T:p.P335S,PMS2:NM_001322006:exon10:c.C1252T:p.P418S,PMS2:NM_001322007:exon10:c.C1090T:p.P364S,PMS2:NM_001322013:exon10:c.C835T:p.P279S,PMS2:NM_000535:exon11:c.C1408T:p.P470S,PMS2:NM_001322003:exon11:c.C1003T:p.P335S,PMS2:NM_001322005:exon11:c.C1003T:p.P335S,PMS2:NM_001322009:exon11:c.C1003T:p.P335S,PMS2:NM_001322011:exon11:c.C475T:p.P159S,PMS2:NM_001322012:exon11:c.C475T:p.P159S,PMS2:NM_001322014:exon11:c.C1408T:p.P470S,PMS2:NM_001322015:exon11:c.C1099T:p.P367S 0.36 0.27 0.43 0.36 0.44 0.34 0.3854 0.2804 0.3886 0.3773 0.3436 0.4137 0.3822 0.3559 0.37 0.28 0.42 0.33 0.39 rs1805321 COSM3736445 1(skin);1(thyroid) Benign|Benign|Benign|Benign|Benign Lynch_syndrome|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I RCV000030364.4|RCV000034614.1|RCV000079103.7|RCV000130721.2|RCV000144645.1 MedGen:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen:SNOMED_CT|MedGen:OMIM C1333990:ORPHA144:315058005|CN221809|CN169374|C0027672:699346009|C2936783:120435 . . . . . . 0.844 0.051 T 0.018 0.165 B 0.005 0.104 B 0.008 0.012 N 1 0.090 P 1.03 0.257 L 1.14 0.384 T 0.2 0.057 N 0.086 0.394 -1.002 0.294 T 0.000 0.000 T . . . -0.661 0.047 0.089 0.294 0.016 0.044 0.099 N c -1.247 -1.204 0.000 0.064 0.707 0.730 0 0.572 0.165 0.283 0.185 -0.298 0.081 0.002 0.151 0.000 0.016 2.335 0.040 . ENSG00000086232.8|ENSG00000122512.10|ENSG00000086232.8|ENSG00000122512.10|ENSG00000086232.8 Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Testis 0.3879 0.2835 0.3879 0.4506 0.3763 0.3486 0.4157 0.3930 0.3531 0.3706 0.2827 0.4045 0.4040 0.3890 0.3514 0.4212 0.3788 het 2568.35 217 7 6026988 . G A 2568.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.951;DP=217;Dels=0.00;FS=3.092;HRun=0;HaplotypeScore=5.5246;MQ=56.57;MQ0=1;MQRankSum=2.777;QD=11.84;ReadPosRankSum=-1.089;VQSLOD=2.2290;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:112,105:217:99:2598,0,2904 7 6036980 6036980 G C exonic PMS2 synonymous SNV PMS2:NM_001322008:exon5:c.C462G:p.S154S,PMS2:NM_001322004:exon6:c.C375G:p.S125S,PMS2:NM_001322007:exon6:c.C462G:p.S154S,PMS2:NM_001322010:exon6:c.C375G:p.S125S,PMS2:NM_001322013:exon6:c.C207G:p.S69S,PMS2:NM_000535:exon7:c.C780G:p.S260S,PMS2:NM_001322003:exon7:c.C375G:p.S125S,PMS2:NM_001322005:exon7:c.C375G:p.S125S,PMS2:NM_001322006:exon7:c.C780G:p.S260S,PMS2:NM_001322009:exon7:c.C375G:p.S125S,PMS2:NM_001322014:exon7:c.C780G:p.S260S,PMS2:NM_001322015:exon7:c.C471G:p.S157S 0.83 0.86 0.75 0.88 0.84 0.8 0.8109 0.8459 0.6438 0.9219 0.7931 0.8199 0.8038 0.8172 0.82 0.84 0.81 0.79 0.81 rs1805319 COSM4162330 1(thyroid) Benign\x2cBenign|Benign|Benign\x2cLikely benign|Benign Hereditary_cancer-predisposing_syndrome\x2cLynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome\x2cLynch_syndrome|not_specified RCV000162392.1\x2cRCV000030372.4|RCV000079112.6|RCV000131484.2\x2cRCV000229294.2|RCV000428682.1 MedGen:SNOMED_CT\x2cMedGen:Orphanet:SNOMED_CT|MedGen|MedGen:SNOMED_CT\x2cMedGen:Orphanet:SNOMED_CT|MedGen C0027672:699346009\x2cC1333990:ORPHA144:315058005|CN169374|C0027672:699346009\x2cC1333990:ORPHA144:315058005|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8015 0.8425 0.6496 0.8385 0.9231 0.7934 0.8170 0.7975 0.8170 0.8205 0.8433 0.7031 0.8444 0.9180 0.7911 0.8107 0.8010 hom 1420.38 54 7 6036980 . G C 1420.38 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5042;MQ=58.61;MQ0=0;QD=26.30;VQSLOD=5.9946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:54:99:1453,108,0 7 6063283 6063283 C T exonic AIMP2 synonymous SNV AIMP2:NM_001326607:exon3:c.C717T:p.N239N,AIMP2:NM_001326606:exon4:c.C804T:p.N268N,AIMP2:NM_001326611:exon4:c.C690T:p.N230N,AIMP2:NM_006303:exon4:c.C924T:p.N308N,AIMP2:NM_001326609:exon5:c.C690T:p.N230N,AIMP2:NM_001326610:exon5:c.C690T:p.N230N 0.33 0.16 0.4 0.37 0.46 0.33 0.3746 0.1848 0.3234 0.3815 0.3375 0.4225 0.3778 0.3480 0.35 0.19 0.43 0.26 0.42 rs4560 COSM4162332 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3760 0.1841 0.3252 0.4421 0.3829 0.3440 0.4257 0.3850 0.3468 0.3425 0.1850 0.3365 0.4040 0.3804 0.3530 0.4251 0.3686 het 941.44 98 7 6063283 . C T 941.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.296;DP=98;Dels=0.00;FS=2.655;HRun=0;HaplotypeScore=0.9989;MQ=58.45;MQ0=0;MQRankSum=1.275;QD=9.61;ReadPosRankSum=-0.482;VQSLOD=5.8084;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,44:98:99:971,0,1407 7 6204999 6204999 A C exonic CYTH3 synonymous SNV CYTH3:NM_004227:exon12:c.T1032G:p.T344T 0.8 0.94 0.7 0.85 0.71 0.7 0.7063 0.8913 0.6176 0.8588 0.6833 0.6821 0.7026 0.6790 0.75 0.89 0.68 0.74 0.57 rs2301910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6983 0.8959 0.6217 0.6732 0.8628 0.6886 0.6792 0.6885 0.6776 0.7504 0.8911 0.6487 0.6987 0.8513 0.6804 0.6846 0.6881 het 1226.34 116 7 6204999 . A C 1226.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.840;DP=116;Dels=0.00;FS=3.472;HRun=1;HaplotypeScore=3.7147;MQ=59.06;MQ0=0;MQRankSum=0.219;QD=10.57;ReadPosRankSum=0.575;VQSLOD=5.8734;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,52:116:99:1256,0,1788 7 6370144 6370144 G A exonic FAM220A synonymous SNV FAM220A:NM_001037163:exon2:c.C642T:p.D214D 0.44 0.69 0.37 0.46 0.2 0.39 0.2964 0.6242 0.4220 0.4703 0.1934 0.1982 0.2775 0.3500 0.34 0.62 0.2 0.36 0.21 rs1043965 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2929 0.6321 0.4137 0.2261 0.4706 0.1948 0.1953 0.2628 0.3446 0.3356 0.6195 0.3864 0.2318 0.4738 0.1785 0.1982 0.2363 het 2108.47 185 7 6370144 . G A 2108.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.210;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8922;MQ=59.05;MQ0=0;MQRankSum=1.963;QD=11.40;ReadPosRankSum=1.168;VQSLOD=5.9336;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:98,87:185:99:2138,0,2590 7 6370194 6370194 C T exonic FAM220A nonsynonymous SNV FAM220A:NM_001037163:exon2:c.G592A:p.V198M 0.73 0.9 0.66 0.88 0.46 0.69 0.5913 0.8540 0.7389 0.8889 0.5147 0.4749 0.5628 0.6690 0.6 0.84 0.48 0.78 0.57 rs6952125 . . . . . . . . . . . . . 0.06 0.373 T 0.42 0.335 B 0.135 0.316 B 0.710 0.062 N 1 0.090 P 0.69 0.170 N 3.15 0.078 T -1.07 0.279 N 0.043 0.023 -1.069 0.096 T 0.000 0.000 T . . . 1.075 0.197 11.08 0.953 0.259 0.043 0.098 N c -1.038 -1.123 0.000 0.046 0.707 0.730 0 -1.16 0.091 -0.125 0.105 -0.347 0.071 0.000 0.063 0.000 0.016 1.766 0.028 SIPAR domain ENSG00000178397.8|ENSG00000178397.8|ENSG00000178397.8|ENSG00000178397.8 Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal 0.5920 0.8630 0.7289 0.4543 0.8922 0.5162 0.4760 0.5629 0.6650 0.6169 0.8521 0.6711 0.4767 0.8833 0.5017 0.4822 0.5450 hom 5604.83 183 7 6370194 . C T 5604.83 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=30.63;VQSLOD=9.3897;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:5604,442,0 7 6370305 6370305 C G exonic FAM220A nonsynonymous SNV FAM220A:NM_001037163:exon2:c.G481C:p.V161L 0.72 0.86 0.66 0.88 0.46 0.69 0.5907 0.8177 0.7381 0.8891 0.5493 0.4765 0.5740 0.6693 0.59 0.81 0.48 0.72 0.55 rs3750039 COSM5654091 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.817 0.092 N 1 0.090 P -1.1 0.010 N 3.42 0.055 T 1.07 0.013 N 0.013 0.002 -1.000 0.300 T 0.000 0.000 T . . . -1.168 0.026 0.007 0.136 0.003 0.001 0.007 N c -1.646 -1.610 0.000 0.071 0.707 0.730 0 -3.78 0.040 0.045 0.138 -0.314 0.078 0.000 0.063 0.003 0.074 3.879 0.085 SIPAR domain ENSG00000178397.8|ENSG00000178397.8|ENSG00000178397.8|ENSG00000178397.8 Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal 0.5929 0.8257 0.7278 0.4543 0.8923 0.5476 0.4769 0.5651 0.6655 0.6122 0.8182 0.6715 0.4767 0.8829 0.5375 0.4837 0.5514 hom 2479.70 75 7 6370305 . C G 2479.70 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.08;MQ0=0;QD=33.06;VQSLOD=7.9287;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2513,199,0 7 6370406 6370406 C T exonic FAM220A nonsynonymous SNV FAM220A:NM_001037163:exon2:c.G380A:p.R127Q 0.72 0.87 0.66 0.88 0.45 0.69 0.5882 0.8208 0.7374 0.8891 0.5148 0.4747 0.5628 0.6689 0.59 0.81 0.48 0.74 0.57 rs3750040 COSM3721092 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.602 0.056 T 0.994 0.647 D 0.662 0.510 P 0.557 0.114 U 1 0.090 P 0 0.065 N 3.1 0.083 T 0.59 0.026 N 0.101 0.104 -1.039 0.177 T 0.000 0.000 T . . . 1.263 0.217 12.07 0.683 0.084 0.186 0.201 N c -0.383 -0.491 0.001 0.075 0.706 0.609 0 4.23 0.492 0.597 0.236 0.919 0.430 0.000 0.063 0.006 0.095 8.367 0.314 SIPAR domain ENSG00000178397.8|ENSG00000178397.8|ENSG00000178397.8|ENSG00000178397.8 Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal 0.5895 0.8279 0.7275 0.4541 0.8921 0.5162 0.4756 0.5626 0.6651 0.6075 0.8201 0.6695 0.4801 0.8849 0.5017 0.4819 0.5428 hom 3295.73 100 7 6370406 . C T 3295.73 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7085;MQ=58.01;MQ0=0;QD=32.96;VQSLOD=8.1029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3295,256,0 7 6449496 6449496 T C exonic DAGLB nonsynonymous SNV DAGLB:NM_001142936:exon13:c.A1604G:p.Q535R,DAGLB:NM_139179:exon15:c.A1991G:p.Q664R 0.16 0.054 0.18 0.27 0.21 0.14 0.1924 0.0842 0.1874 0.2275 0.2042 0.2159 0.1741 0.1468 0.18 0.094 0.22 0.15 0.2 rs2303361 COSM3982246 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.834 0.051 T 0.007 0.131 B 0.003 0.080 B 0.717 0.063 N 1 0.090 P 2.3 0.659 M 0.94 0.441 T -0.3 0.119 N 0.028 0.047 -1.014 0.255 T 0.000 0.000 T . . . -1.409 0.019 0.003 0.235 0.010 0.387 0.258 N c -1.180 -1.210 1.000 0.747 0.672 0.522 0 -1.66 0.078 -0.215 0.092 -0.225 0.096 0.000 0.063 0.001 0.043 6.544 0.215 . ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000136238.13|ENSG00000164535.10|ENSG00000164535.10|ENSG00000136238.13|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10|ENSG00000164535.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Vagina|Whole_Blood 0.1900 0.0799 0.1809 0.1026 0.2255 0.2015 0.2200 0.1847 0.1468 0.1775 0.0769 0.1933 0.1126 0.2083 0.2027 0.2271 0.1796 het 1265.26 100 7 6449496 . T C 1265.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.357;DP=100;Dels=0.00;FS=2.324;HRun=0;HaplotypeScore=2.4440;MQ=58.93;MQ0=0;MQRankSum=1.701;QD=12.65;ReadPosRankSum=-0.155;VQSLOD=6.2965;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,48:100:99:1295,0,1543 7 6449967 6449967 T G exonic DAGLB synonymous SNV DAGLB:NM_001142936:exon12:c.A1227C:p.G409G,DAGLB:NM_139179:exon14:c.A1614C:p.G538G 0.016 . 0.033 . 0.042 0.016 0.0252 0.0051 0.0221 0 0.0057 0.0362 0.0356 0.0158 0.026 0.0064 0.037 0.033 0.082 rs77154720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0249 0.0055 0.0232 0.0532 5.8e-05 0.0050 0.0355 0.0325 0.0158 0.0182 0.0064 0.0274 0.0430 0 0.0066 0.0283 0.0234 het 1463.42 147 7 6449967 . T G 1463.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.712;DP=147;Dels=0.00;FS=0.641;HRun=0;HaplotypeScore=2.3999;MQ=59.62;MQ0=0;MQRankSum=0.326;QD=9.96;ReadPosRankSum=-0.211;VQSLOD=6.3030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,59:147:99:1493,0,2238 7 6456347 6456347 G T exonic DAGLB synonymous SNV DAGLB:NM_001142936:exon9:c.C951A:p.G317G,DAGLB:NM_139179:exon11:c.C1338A:p.G446G 0.15 0.035 0.17 0.24 0.21 0.14 0.1874 0.0642 0.1791 0.2026 0.2058 0.2147 0.1745 0.1455 0.17 0.075 0.22 0.098 0.16 rs1055428 COSM4162341 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1851 0.0598 0.1722 0.1030 0.1988 0.2043 0.2186 0.1815 0.1450 0.1695 0.0587 0.1826 0.1126 0.1845 0.2041 0.2241 0.1810 het 492.28 39 7 6456347 . G T 492.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.417;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.398;QD=12.62;ReadPosRankSum=-1.926;VQSLOD=5.2111;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,21:39:99:522,0,392 7 6476104 6476104 G A exonic DAGLB nonsynonymous SNV DAGLB:NM_001142936:exon3:c.C308T:p.A103V,DAGLB:NM_139179:exon3:c.C308T:p.A103V 0.016 . 0.032 . 0.04 0.016 0.0245 0.0047 0.0219 0 0.0056 0.0353 0.0352 0.0151 0.025 0.0059 0.035 0.033 0.074 rs117103601 COSM1318969 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.084 T 0.287 0.305 B 0.04 0.225 B 0.008 0.310 N 1 0.211 N 1.665 0.427 L 0.94 0.456 T -0.45 0.240 N 0.302 0.403 -1.028 0.210 T 0.017 0.069 T . . . 1.505 0.243 13.34 0.989 0.481 0.163 0.191 N c -0.601 -0.529 1.000 0.747 0.737 0.974 0 5.0 0.661 2.278 0.428 1.048 0.713 0.023 0.197 0.226 0.223 7.954 0.290 . . . 0.0243 0.0052 0.0229 0.0532 5.798e-05 0.0051 0.0344 0.0317 0.0157 0.0179 0.0061 0.0286 0.0430 0 0.0066 0.0278 0.0234 het 2365.73 189 7 6476104 . G A 2365.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.420;DP=189;Dels=0.00;FS=0.573;HRun=0;HaplotypeScore=8.0985;MQ=58.79;MQ0=0;MQRankSum=0.642;QD=12.52;ReadPosRankSum=-0.830;VQSLOD=4.4684;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,96:189:99:2396,0,2438 7 6505901 6505901 T C exonic KDELR2 synonymous SNV KDELR2:NM_006854:exon4:c.A405G:p.L135L 0.81 0.98 0.86 0.59 0.95 0.66 0.8752 0.9746 0.8579 0.5870 0.9568 0.9350 0.8667 0.7012 0.95 0.98 0.93 0.85 0.93 rs2230263 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8745 0.9773 0.8603 0.9260 0.5839 0.9578 0.9346 0.8970 0.7024 0.9306 0.9737 0.8831 0.9238 0.5760 0.9639 0.9399 0.9131 het 1782.27 143 7 6505901 . T C 1782.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.453;DP=143;Dels=0.00;FS=1.348;HRun=0;HaplotypeScore=1.9318;MQ=59.71;MQ0=0;MQRankSum=-0.931;QD=12.46;ReadPosRankSum=1.183;VQSLOD=6.3080;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,62:143:99:1812,0,1992 7 6621277 6621277 G A exonic ZDHHC4 nonsynonymous SNV ZDHHC4:NM_001134387:exon4:c.G157A:p.V53M,ZDHHC4:NM_001134389:exon4:c.G157A:p.V53M,ZDHHC4:NM_018106:exon4:c.G157A:p.V53M,ZDHHC4:NM_001134388:exon5:c.G157A:p.V53M 0.33 0.44 0.37 0.24 0.28 0.28 0.3140 0.4054 0.5060 0.2321 0.2802 0.2808 0.3374 0.3110 0.31 0.39 0.27 0.35 0.36 rs11559146 COSM3762809 2(haematopoietic_and_lymphoid_tissue);2(pancreas);1(large_intestine) . . . . . . . . . . . 0.491 0.114 T 0.003 0.119 B 0.002 0.080 B 0.285 0.039 N 1 0.090 P -0.33 0.035 N 1.27 0.361 T -0.41 0.162 N 0.044 0.310 -0.983 0.344 T 0.000 0.000 T . . . -1.367 0.020 0.004 0.670 0.080 0.014 0.046 N c -1.920 -1.950 1.000 0.747 0.732 0.924 0 -8.12 0.009 -0.736 0.049 -1.243 0.015 0.000 0.063 0.000 0.016 14.569 0.677 . ENSG00000136247.10|ENSG00000232581.1|ENSG00000136247.10|ENSG00000136247.10|ENSG00000232581.1|ENSG00000136247.10|ENSG00000232581.1|ENSG00000136247.10|ENSG00000232581.1|ENSG00000136247.10|ENSG00000232581.1|ENSG00000136247.10|ENSG00000232581.1|ENSG00000136247.10|ENSG00000232581.1 Brain_Cerebellum|Brain_Cerebellum|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood|Whole_Blood 0.3169 0.4077 0.4901 0.2720 0.2300 0.2814 0.2793 0.3151 0.3098 0.3093 0.3937 0.4463 0.3 0.2363 0.2667 0.2724 0.2816 het 1039.54 81 7 6621277 . G A 1039.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.330;DP=81;Dels=0.00;FS=4.319;HRun=0;HaplotypeScore=1.5661;MQ=58.84;MQ0=0;MQRankSum=0.231;QD=12.83;ReadPosRankSum=-0.694;VQSLOD=6.0454;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,40:81:99:1070,0,974 7 6647738 6647738 T C exonic C7orf26 synonymous SNV C7orf26:NM_024067:exon6:c.T1296C:p.H432H,C7orf26:NM_001303039:exon7:c.T1005C:p.H335H 0.75 0.98 0.83 0.52 0.87 0.51 0.7664 0.9602 0.8192 0.5279 0.7172 0.8376 0.8068 0.5795 0.9 0.96 0.87 0.45 0.18 rs4416743 COSM4162365 2(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7786 0.9652 0.8448 0.8436 0.5284 0.7254 0.8499 0.8153 0.5740 0.8628 0.9649 0.8603 0.8333 0.5427 0.7697 0.8646 0.8121 hom 526.38 18 7 6647738 . T C 526.38 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6147;MQ=58.71;MQ0=0;QD=29.24;VQSLOD=8.7354;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:559,45,0 7 6731672 6731672 G C exonic ZNF12 nonsynonymous SNV ZNF12:NM_016265:exon5:c.C901G:p.Q301E,ZNF12:NM_006956:exon6:c.C787G:p.Q263E 0.019 0.003 0.036 . 0.043 0.021 0.0251 0.0086 0.0210 0.0001 0.0048 0.0348 0.0388 0.0191 0.026 0.01 0.035 0.033 . rs61731528 . . . . . . . . . . . . . 1.0 0.010 T 0.807 0.433 P 0.475 0.451 P 0.114 0.193 N 1 0.090 N -0.465 0.027 N 5.69 0.008 T 1.6 0.011 N 0.102 0.111 -0.945 0.418 T 0.000 0.001 T . . . 0.989 0.189 10.60 0.802 0.127 0.000 0.002 N c -0.998 -0.988 0.938 0.273 0.632 0.406 0 -0.047 0.131 -0.169 0.098 0.953 0.551 0.000 0.063 0.692 0.307 10.755 0.452 Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0247 0.0081 0.0222 0.0430 0.0002 0.0049 0.0346 0.0331 0.0203 0.0190 0.0099 0.0264 0.0336 0 0.0060 0.0284 0.025 het 671.87 79 7 6731672 . G C 671.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.048;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.93;MQ0=0;MQRankSum=0.874;QD=8.50;ReadPosRankSum=-0.238;VQSLOD=5.8449;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,29:79:99:702,0,1336 7 7495735 7495735 T C exonic COL28A1 nonsynonymous SNV COL28A1:NM_001037763:exon16:c.A1311G:p.I437M 0.32 0.57 0.25 0.21 0.21 0.23 0.2391 0.5073 0.1785 0.2238 0.1944 0.2114 0.2456 0.2595 0.29 0.48 0.2 0.3 0.25 rs55745506 COSM3982266 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.311 0.139 T 0.0 0.026 B 0.001 0.040 B 0.199 0.033 N 1.000 0.206 P 0.98 0.250 L -3.39 0.942 D 0.25 0.045 N 0.025 0.009 -0.971 0.370 T 0.000 0.000 T . . . 1.067 0.196 11.04 0.825 0.137 0.016 0.051 N c -0.856 -0.693 0.000 0.012 0.554 0.246 0 1.44 0.215 0.010 0.130 -0.416 0.060 0.994 0.380 0.996 0.625 6.775 0.227 . . . 0.2309 0.5134 0.1848 0.2046 0.2235 0.1890 0.2112 0.2219 0.2574 0.2898 0.5003 0.2255 0.1755 0.2366 0.1789 0.2089 0.2290 het 621.86 74 7 7495735 . T C 621.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.214;DP=74;Dels=0.00;FS=1.056;HRun=2;HaplotypeScore=4.9868;MQ=57.28;MQ0=0;MQRankSum=0.192;QD=8.40;ReadPosRankSum=1.831;VQSLOD=3.4242;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,25:74:99:652,0,1286 7 7514235 7514235 C G exonic COL28A1 nonsynonymous SNV COL28A1:NM_001037763:exon15:c.G1299C:p.E433D 0.34 0.65 0.26 0.21 0.21 0.23 0.2451 0.5865 0.1811 0.2220 0.1940 0.2110 0.2467 0.2576 0.31 0.56 0.2 0.35 0.25 rs6952195 COSM150235 1(stomach) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.386 N 1.000 0.182 P 0.86 0.214 L -0.84 0.743 T 1.64 0.006 N 0.028 0.012 -0.913 0.465 T 0.000 0.000 T . . . 0.913 0.181 10.15 0.221 0.009 0.024 0.067 N c -0.668 -0.508 0.000 0.012 0.487 0.133 0 2.82 0.319 1.192 0.315 -0.208 0.100 1.000 0.715 0.986 0.517 2.926 0.054 . . . 0.2365 0.5952 0.1892 0.2054 0.2233 0.1881 0.2112 0.2261 0.2561 0.3159 0.5928 0.2314 0.1755 0.2376 0.1789 0.2086 0.2300 het 1031.79 109 7 7514235 . C G 1031.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.440;DP=109;Dels=0.00;FS=1.598;HRun=0;HaplotypeScore=6.9731;MQ=58.09;MQ0=0;MQRankSum=0.477;QD=9.47;ReadPosRankSum=0.483;VQSLOD=3.7913;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,45:109:99:1062,0,1692 7 7545691 7545691 G C exonic COL28A1 nonsynonymous SNV COL28A1:NM_001037763:exon11:c.C980G:p.T327S 0.14 0.12 0.15 0.17 0.12 0.17 0.1310 0.1243 0.1226 0.1645 0.1064 0.1201 0.1411 0.1767 0.12 0.12 0.12 0.22 0.12 rs10486176 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.929 0.084 N 1 0.090 P 0.995 0.252 L -3.18 0.931 D 0.32 0.040 N 0.007 0.002 -0.954 0.402 T 0.004 0.014 T . . . 0.209 0.114 4.778 0.352 0.022 0.012 0.043 N c -0.790 -0.688 0.999 0.396 0.554 0.246 0 1.68 0.231 0.373 0.201 0.067 0.174 0.743 0.288 0.993 0.574 5.235 0.147 . ENSG00000215018.5|ENSG00000106399.7|ENSG00000106399.7 Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.1299 0.1247 0.1200 0.1300 0.1670 0.1027 0.1210 0.1290 0.1752 0.1226 0.1280 0.1468 0.0993 0.1821 0.1005 0.1181 0.1112 het 1180.35 86 7 7545691 . G C 1180.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.985;DP=86;Dels=0.00;FS=1.835;HRun=0;HaplotypeScore=1.7262;MQ=59.30;MQ0=0;MQRankSum=-0.911;QD=13.73;ReadPosRankSum=0.402;VQSLOD=6.2079;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,44:86:99:1210,0,1078 7 7571094 7571094 G C exonic COL28A1 nonsynonymous SNV COL28A1:NM_001037763:exon3:c.C566G:p.A189G 0.95 0.91 0.96 1. 0.94 0.98 0.9486 0.9107 0.9545 0.9993 0.9542 0.9441 0.9699 0.9554 0.94 0.91 0.95 0.98 0.95 rs7804532 COSM5002036 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.336 N 0.996 0.230 P -2.305 0.001 N -0.56 0.712 T 3.35 0.001 N 0.09 0.191 -0.931 0.440 T 0.000 0.000 T . . . -0.064 0.088 2.010 0.143 0.003 0.020 0.059 N c -0.951 -0.700 0.628 0.219 0.487 0.133 0 4.2 0.486 3.933 0.560 0.067 0.174 1.000 0.715 0.991 0.552 14.147 0.647 von Willebrand factor\x2c type A ENSG00000272732.1|ENSG00000215018.5|ENSG00000272732.1|ENSG00000272732.1|ENSG00000272732.1 Adipose_Visceral_Omentum|Brain_Cerebellar_Hemisphere|Esophagus_Muscularis|Nerve_Tibial|Thyroid 0.9510 0.9102 0.9553 0.9691 0.9996 0.9547 0.9437 0.9550 0.9563 0.9389 0.9065 0.9344 0.9669 0.9994 0.9625 0.9438 0.9654 hom 1616.10 50 7 7571094 . G C 1616.10 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.16;MQ0=0;QD=32.32;VQSLOD=9.2797;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1649,129,0 7 7613039 7613039 C T exonic MIOS synonymous SNV MIOS:NM_019005:exon4:c.C933T:p.P311P 0.099 0.097 0.089 0.051 0.11 0.15 0.1072 0.0797 0.0751 0.0466 0.1048 0.1119 0.1167 0.1594 0.096 0.072 0.11 0.065 0.13 rs61744397 COSM3982270 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1051 0.0831 0.0726 0.1227 0.0442 0.1012 0.1121 0.1090 0.1566 0.0983 0.0849 0.1134 0.0927 0.0426 0.0962 0.1113 0.1074 het 1899.17 154 7 7613039 . C T 1899.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.431;DP=154;Dels=0.00;FS=0.601;HRun=0;HaplotypeScore=2.7970;MQ=59.11;MQ0=0;MQRankSum=1.388;QD=12.33;ReadPosRankSum=2.593;VQSLOD=5.1072;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,70:154:99:1929,0,2362 7 7646651 7646651 G T exonic MIOS synonymous SNV MIOS:NM_019005:exon13:c.G2556T:p.S852S 0.99 1. 0.99 1. 0.97 0.99 0.9820 0.9956 0.9912 0.9995 0.9868 0.9779 0.9933 0.9726 0.98 0.99 0.98 0.95 0.98 rs7806046 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9827 0.9958 0.9898 0.9938 0.9999 0.9882 0.9766 0.9833 0.9732 0.9844 0.9959 0.9821 0.9901 1 0.9871 0.9755 0.9847 hom 4311 146 7 7646651 . G T 4311 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.75;MQ0=0;QD=29.53;VQSLOD=8.5844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4311,322,0 7 7646687 7646687 A G exonic MIOS synonymous SNV MIOS:NM_019005:exon13:c.A2592G:p.T864T 0.69 0.56 0.8 0.74 0.77 0.67 0.7518 0.5910 0.8465 0.7444 0.7751 0.7764 0.75 0.6763 0.73 0.62 0.79 0.7 0.68 rs4222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7580 0.5889 0.8501 0.6960 0.7447 0.7671 0.7812 0.7587 0.6782 0.7197 0.5932 0.8329 0.7114 0.7667 0.7755 0.7665 0.7597 het 1512.68 130 7 7646687 . A G 1512.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.384;DP=130;Dels=0.00;FS=4.409;HRun=3;HaplotypeScore=8.9893;MQ=59.07;MQ0=0;MQRankSum=-1.261;QD=11.64;ReadPosRankSum=-0.484;VQSLOD=3.8519;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,63:130:99:1543,0,1664 7 11581121 11581121 T C exonic THSD7A nonsynonymous SNV THSD7A:NM_015204:exon6:c.A1747G:p.N583D 0.83 0.99 0.87 0.76 0.77 0.72 0.7710 0.9573 0.8952 0.7552 0.7056 0.7461 0.7405 0.7100 0.82 0.95 0.76 0.95 . rs47 COSM4767778 1(biliary_tract) . . . . . . . . . . . 0.63 0.051 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.135 0.009 N 0.39 0.574 T 0.21 0.048 N 0.024 0.007 -0.965 0.382 T 0.000 0.000 T . . . 2.046 0.307 16.51 0.982 0.389 0.247 0.223 N c -0.679 -0.389 1.000 0.747 0.638 0.428 0 4.7 0.586 1.960 0.398 0.069 0.176 0.996 0.391 0.924 0.398 11.461 0.493 . . . 0.7764 0.9606 0.8959 0.8509 0.7481 0.7003 0.7459 0.7757 0.7128 0.8028 0.9569 0.8744 0.85 0.7544 0.7126 0.7385 0.7347 hom 2996.37 95 7 11581121 . T C 2996.37 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.07;MQ0=0;QD=31.54;VQSLOD=9.2115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3029,241,0 7 11581134 11581134 T C exonic THSD7A synonymous SNV THSD7A:NM_015204:exon6:c.A1734G:p.A578A 0.47 0.49 0.38 0.54 0.42 0.49 0.4275 0.4895 0.3691 0.5034 0.3436 0.4148 0.4437 0.4762 0.43 0.46 0.42 0.5 . rs2074603 COSM4767483 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4246 0.4832 0.3680 0.4672 0.5045 0.3338 0.4198 0.4298 0.4809 0.4295 0.4788 0.3813 0.4735 0.5119 0.3387 0.4164 0.4061 hom 2823.70 90 7 11581134 . T C 2823.70 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9772;MQ=59.02;MQ0=0;QD=31.37;VQSLOD=9.5677;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2857,235,0 7 11676377 11676377 G A exonic THSD7A synonymous SNV THSD7A:NM_015204:exon2:c.C402T:p.P134P 0.27 0.16 0.33 0.28 0.25 0.35 0.2620 0.1609 0.3427 0.2733 0.2244 0.2510 0.25 0.3201 0.22 0.15 0.25 0.16 . rs2074598 COSM4417305 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2641 0.1602 0.3272 0.2170 0.2646 0.2298 0.2559 0.2645 0.3161 0.2225 0.1605 0.3138 0.2233 0.2642 0.2248 0.2479 0.2300 het 923.05 78 7 11676377 . G A 923.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.746;DP=78;Dels=0.00;FS=3.098;HRun=0;HaplotypeScore=1.7608;MQ=59.17;MQ0=0;MQRankSum=-0.348;QD=11.83;ReadPosRankSum=0.448;VQSLOD=6.5634;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,34:78:99:953,0,1176 7 13978809 13978809 T C exonic ETV1 nonsynonymous SNV ETV1:NM_001163151:exon2:c.A124G:p.S42G,ETV1:NM_001163150:exon3:c.A178G:p.S60G,ETV1:NM_001163152:exon3:c.A178G:p.S60G,ETV1:NM_001163149:exon5:c.A244G:p.S82G,ETV1:NM_001163147:exon6:c.A298G:p.S100G,ETV1:NM_001163148:exon6:c.A244G:p.S82G,ETV1:NM_004956:exon7:c.A298G:p.S100G 0.32 0.18 0.35 0.42 0.34 0.36 0.3500 0.1965 0.3724 0.4066 0.3738 0.3502 0.3705 0.3842 0.29 0.19 0.34 0.26 . rs9639168 COSM1582995;COSM1582996 1(haematopoietic_and_lymphoid_tissue);1(meninges);1(large_intestine) . . . . . . . . . . . 0.494 0.079 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 1.000 0.208 P 0.345 0.112 N 1.96 0.223 T -0.36 0.249 N 0.188 0.447 -0.907 0.473 T 0.000 0.000 T . . . 1.292 0.220 12.23 0.960 0.280 0.264 0.228 N c -0.555 -0.340 0.000 0.062 0.732 0.924 0 4.57 0.557 0.888 0.277 0.016 0.142 0.982 0.353 0.990 0.544 8.696 0.333 PEA3-type ETS-domain transcription factor\x2c N-terminal . . 0.3486 0.1923 0.3590 0.3574 0.4010 0.3563 0.3470 0.3555 0.3821 0.3134 0.1878 0.3361 0.4040 0.3936 0.3443 0.3635 0.3742 het 1403.37 106 7 13978809 . T C 1403.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.431;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2877;MQ=58.96;MQ0=0;MQRankSum=-0.633;QD=13.24;ReadPosRankSum=0.305;VQSLOD=4.9728;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,56:106:99:1433,0,1359 7 14217673 14217673 G A exonic DGKB synonymous SNV DGKB:NM_001350720:exon22:c.C2172T:p.C724C,DGKB:NM_001350721:exon22:c.C2172T:p.C724C,DGKB:NM_001350711:exon23:c.C2205T:p.C735C,DGKB:NM_001350712:exon23:c.C2205T:p.C735C,DGKB:NM_001350714:exon23:c.C2205T:p.C735C,DGKB:NM_001350715:exon23:c.C2208T:p.C736C,DGKB:NM_001350716:exon23:c.C2208T:p.C736C,DGKB:NM_001350717:exon23:c.C2193T:p.C731C,DGKB:NM_001350718:exon23:c.C2193T:p.C731C,DGKB:NM_001350719:exon23:c.C2193T:p.C731C,DGKB:NM_001350724:exon23:c.C2079T:p.C693C,DGKB:NM_145695:exon23:c.C2229T:p.C743C,DGKB:NM_001350705:exon24:c.C2229T:p.C743C,DGKB:NM_001350706:exon24:c.C2229T:p.C743C,DGKB:NM_001350707:exon24:c.C2226T:p.C742C,DGKB:NM_001350708:exon24:c.C2226T:p.C742C,DGKB:NM_001350709:exon24:c.C2226T:p.C742C,DGKB:NM_001350722:exon24:c.C2103T:p.C701C,DGKB:NM_001350723:exon24:c.C2103T:p.C701C 0.29 0.54 0.2 0.27 0.21 0.13 0.2178 0.4985 0.1581 0.2772 0.2664 0.1846 0.2327 0.1604 0.27 0.45 0.17 0.29 . rs6966154 COSM4004348;COSM4004349 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2051 0.5026 0.1601 0.0781 0.2739 0.2721 0.1828 0.1856 0.1322 0.2978 0.4951 0.1746 0.0960 0.3026 0.2876 0.2003 0.2327 het 1446.28 117 7 14217673 . G A 1446.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.855;DP=117;Dels=0.00;FS=0.945;HRun=1;HaplotypeScore=4.4957;MQ=59.64;MQ0=0;MQRankSum=1.421;QD=12.36;ReadPosRankSum=-1.875;VQSLOD=5.0484;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,55:117:99:1476,0,1791 7 14758273 14758273 C T exonic DGKB synonymous SNV DGKB:NM_001350711:exon5:c.G339A:p.R113R,DGKB:NM_001350712:exon5:c.G339A:p.R113R,DGKB:NM_001350714:exon5:c.G339A:p.R113R,DGKB:NM_001350715:exon5:c.G339A:p.R113R,DGKB:NM_001350716:exon5:c.G339A:p.R113R,DGKB:NM_001350720:exon5:c.G339A:p.R113R,DGKB:NM_001350721:exon5:c.G339A:p.R113R,DGKB:NM_001350724:exon5:c.G213A:p.R71R,DGKB:NM_145695:exon5:c.G360A:p.R120R,DGKB:NM_001350705:exon6:c.G360A:p.R120R,DGKB:NM_001350706:exon6:c.G360A:p.R120R,DGKB:NM_001350707:exon6:c.G360A:p.R120R,DGKB:NM_001350708:exon6:c.G360A:p.R120R,DGKB:NM_001350709:exon6:c.G360A:p.R120R,DGKB:NM_001350717:exon6:c.G360A:p.R120R,DGKB:NM_001350718:exon6:c.G360A:p.R120R,DGKB:NM_001350719:exon6:c.G360A:p.R120R,DGKB:NM_001350722:exon6:c.G234A:p.R78R,DGKB:NM_001350723:exon6:c.G234A:p.R78R 0.51 0.15 0.59 0.88 0.44 0.61 0.5009 0.1942 0.6824 0.8792 0.4310 0.4519 0.4867 0.5852 0.38 0.2 0.45 0.43 . rs1997040 COSM3762463;COSM3762464 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5094 0.1833 0.6649 0.4204 0.8790 0.4255 0.4579 0.4706 0.5804 0.4057 0.2003 0.6108 0.3974 0.8762 0.4160 0.4593 0.4265 het 350.35 29 7 14758273 . C T 350.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.208;DP=29;Dels=0.00;FS=3.696;HRun=1;HaplotypeScore=0.0000;MQ=57.06;MQ0=0;MQRankSum=-1.200;QD=12.08;ReadPosRankSum=0.851;VQSLOD=3.9691;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,14:29:99:380,0,380 7 16666741 16666741 T G exonic ANKMY2 synonymous SNV ANKMY2:NM_020319:exon3:c.A195C:p.L65L 0.14 0.093 0.21 0.14 0.22 0.071 0.1824 0.0995 0.1848 0.1575 0.2039 0.2182 0.2 0.0929 0.17 0.095 0.21 0.14 0.11 rs11532682 COSM4418838 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1779 0.0925 0.1762 0.2075 0.1492 0.2059 0.2100 0.2033 0.0881 0.1827 0.0988 0.1687 0.2119 0.1603 0.2106 0.2261 0.2077 het 886.66 102 7 16666741 . T G 886.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.399;DP=102;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=0.8667;MQ=59.18;MQ0=0;MQRankSum=-1.471;QD=8.69;ReadPosRankSum=-0.578;VQSLOD=5.5915;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,38:102:99:917,0,1487 7 16666759 16666759 G C exonic ANKMY2 synonymous SNV ANKMY2:NM_020319:exon3:c.C177G:p.L59L 0.14 0.093 0.21 0.14 0.22 0.071 0.1824 0.0992 0.1858 0.1576 0.2036 0.2180 0.2 0.0929 0.17 0.095 0.21 0.14 0.13 rs11531477 COSM4419870 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1762 0.0918 0.1733 0.2030 0.1475 0.2053 0.2084 0.2011 0.0865 0.1831 0.0997 0.1675 0.2053 0.1611 0.2110 0.2263 0.2077 het 745.10 81 7 16666759 . G C 745.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.289;DP=81;Dels=0.00;FS=4.528;HRun=1;HaplotypeScore=0.9867;MQ=59.25;MQ0=0;MQRankSum=-0.220;QD=9.20;ReadPosRankSum=-0.054;VQSLOD=5.9958;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,30:81:99:775,0,1318 7 16816000 16816000 T C exonic TSPAN13 synonymous SNV TSPAN13:NM_014399:exon2:c.T228C:p.F76F 0.34 0.48 0.35 0.2 0.39 0.23 0.3457 0.4676 0.3550 0.1981 0.3089 0.3770 0.3278 0.2283 0.41 0.46 0.38 0.48 0.41 rs2290837 COSM3762549 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3486 0.4688 0.3700 0.4432 0.2019 0.3134 0.3775 0.3714 0.2321 0.3756 0.4759 0.3573 0.4272 0.2062 0.3060 0.3549 0.3316 hom 2394.73 74 7 16816000 . T C 2394.73 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=32.36;VQSLOD=9.5900;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2428,187,0 7 16823095 16823095 G A exonic TSPAN13 synonymous SNV TSPAN13:NM_014399:exon6:c.G594A:p.A198A 0.42 0.31 0.52 0.3 0.55 0.49 0.4883 0.3072 0.4723 0.3096 0.4387 0.5456 0.4923 0.4951 0.47 0.32 0.55 0.48 0.46 rs11491 COSM150239 1(stomach);1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4913 0.2997 0.4805 0.5115 0.3054 0.4430 0.5542 0.5237 0.4973 0.4448 0.2944 0.4976 0.49 0.3023 0.4466 0.5395 0.5051 hom 5974.12 206 7 16823095 . G A 5974.12 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.1269;MQ=58.48;MQ0=0;QD=29.00;VQSLOD=4.7803;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:5973,457,0 7 16834597 16834597 A G exonic AGR2 synonymous SNV AGR2:NM_006408:exon7:c.T441C:p.N147N 0.34 0.11 0.5 0.3 0.47 0.44 0.4275 0.1521 0.4364 0.2938 0.3687 0.4835 0.4394 0.4613 0.38 0.17 0.5 0.33 0.42 rs6842 COSM3762550;COSM5654092 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4331 0.1444 0.4364 0.4597 0.2906 0.3779 0.4925 0.4543 0.4647 0.3636 0.1522 0.4508 0.4636 0.2865 0.3785 0.4791 0.45 hom 3892.82 132 7 16834597 . A G 3892.82 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.462;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2611;MQ=59.19;MQ0=0;MQRankSum=0.680;QD=29.49;ReadPosRankSum=-1.015;VQSLOD=8.6393;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,130:132:99:3848,253,0 7 17879553 17879553 G A exonic SNX13 synonymous SNV SNX13:NM_001350862:exon13:c.C1236T:p.T412T,SNX13:NM_001350863:exon13:c.C996T:p.T332T,SNX13:NM_001350868:exon13:c.C1236T:p.T412T,SNX13:NM_015132:exon13:c.C1236T:p.T412T,SNX13:NM_001350864:exon14:c.C930T:p.T310T,SNX13:NM_001350865:exon14:c.C930T:p.T310T,SNX13:NM_001350866:exon14:c.C627T:p.T209T,SNX13:NM_001350867:exon14:c.C627T:p.T209T 0.021 0.0038 0.04 . 0.069 0.0051 0.0524 0.0156 0.0242 0.0001 0.0971 0.0757 0.0563 0.0090 0.058 0.018 0.076 0.033 . rs12720473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0520 0.0135 0.0249 0.0208 5.821e-05 0.1014 0.0780 0.0575 0.0086 0.0631 0.0162 0.0227 0.0132 0 0.0927 0.0921 0.0849 hom 1127.31 34 7 17879553 . G A 1127.31 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=33.16;VQSLOD=9.5277;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:90.29:1160,90,0 7 18066569 18066569 C A exonic PRPS1L1 nonsynonymous SNV PRPS1L1:NM_175886:exon1:c.G837T:p.E279D 0.26 0.2 0.4 0.15 0.42 0.22 0.3658 0.2221 0.3790 0.1615 0.4763 0.4286 0.4075 0.2524 0.36 0.23 0.42 0.33 . rs3800962 COSM3762552;COSM3762553 1(breast);1(oesophagus);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . . . . 0.395 0.123 N -0.61 0.718 T 0.38 0.036 N 0.023 0.006 -1.022 0.229 T 0.000 0.000 T . . . 0.466 0.139 7.166 0.142 0.003 0.224 0.215 N c -1.019 -0.889 0.000 0.035 0.487 0.133 0 -2.11 0.068 0.432 0.210 -0.590 0.045 0.996 0.391 0.530 0.276 7.610 0.271 . ENSG00000229937.4 Testis 0.3704 0.2158 0.3867 0.3483 0.1576 0.4793 0.4302 0.3993 0.2553 0.3712 0.2184 0.3616 0.3113 0.1423 0.4897 0.4539 0.4460 het 4514.30 250 7 18066569 . C A 4514.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.230;DP=250;DS;Dels=0.00;FS=1.008;HRun=0;HaplotypeScore=2.9366;MQ=59.42;MQ0=0;MQRankSum=0.692;QD=18.06;ReadPosRankSum=-0.077;VQSLOD=6.0047;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,137:250:99:3830,0,3405 7 18687542 18687542 A T exonic HDAC9 synonymous SNV HDAC9:NM_001204147:exon8:c.A930T:p.P310P,HDAC9:NM_001204145:exon9:c.A1029T:p.P343P,HDAC9:NM_001204146:exon9:c.A1038T:p.P346P,HDAC9:NM_001204148:exon9:c.A1077T:p.P359P,HDAC9:NM_001321877:exon9:c.A1038T:p.P346P,HDAC9:NM_001321879:exon9:c.A1032T:p.P344P,HDAC9:NM_001321885:exon9:c.A1053T:p.P351P,HDAC9:NM_001321888:exon9:c.A1023T:p.P341P,HDAC9:NM_001321891:exon9:c.A1029T:p.P343P,HDAC9:NM_001321895:exon9:c.A1038T:p.P346P,HDAC9:NM_001321898:exon9:c.A1053T:p.P351P,HDAC9:NM_058176:exon9:c.A1161T:p.P387P,HDAC9:NM_178425:exon9:c.A1170T:p.P390P,HDAC9:NM_001321868:exon10:c.A1095T:p.P365P,HDAC9:NM_001321871:exon10:c.A1110T:p.P370P,HDAC9:NM_001321872:exon10:c.A1104T:p.P368P,HDAC9:NM_001321873:exon10:c.A1098T:p.P366P,HDAC9:NM_001321874:exon10:c.A1170T:p.P390P,HDAC9:NM_001321875:exon10:c.A1176T:p.P392P,HDAC9:NM_001321876:exon10:c.A1164T:p.P388P,HDAC9:NM_001321878:exon10:c.A1161T:p.P387P,HDAC9:NM_001321884:exon10:c.A1164T:p.P388P,HDAC9:NM_001321889:exon10:c.A939T:p.P313P,HDAC9:NM_001321890:exon10:c.A1155T:p.P385P,HDAC9:NM_001321893:exon10:c.A1029T:p.P343P,HDAC9:NM_001321894:exon10:c.A1038T:p.P346P,HDAC9:NM_001321897:exon10:c.A1038T:p.P346P,HDAC9:NM_001321900:exon10:c.A1161T:p.P387P,HDAC9:NM_001321901:exon10:c.A1164T:p.P388P,HDAC9:NM_001321902:exon10:c.A1170T:p.P390P,HDAC9:NM_014707:exon10:c.A1161T:p.P387P,HDAC9:NM_178423:exon10:c.A1161T:p.P387P,HDAC9:NM_001204144:exon11:c.A1155T:p.P385P,HDAC9:NM_001321869:exon11:c.A1236T:p.P412P,HDAC9:NM_001321870:exon11:c.A1227T:p.P409P,HDAC9:NM_001321886:exon11:c.A1068T:p.P356P,HDAC9:NM_001321887:exon11:c.A1071T:p.P357P,HDAC9:NM_001321896:exon11:c.A1077T:p.P359P,HDAC9:NM_001321899:exon11:c.A1170T:p.P390P 0.0038 0.0015 0.0043 . 0.014 . 0.0125 0.0026 0.0040 0.0001 0.0599 0.0144 0.0172 0.0028 0.0098 0.0017 0.014 0.011 . rs35614472 . . Benign not_specified RCV000455868.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0121 0.0022 0.0040 0.0176 5.891e-05 0.0515 0.0120 0.0148 0.0023 0.0141 0.0023 0.0036 0.0265 0 0.0599 0.0114 0.0255 het 375.67 26 7 18687542 . A T 375.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.345;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5592;MQ=58.20;MQ0=0;MQRankSum=-1.239;QD=14.45;ReadPosRankSum=-0.184;VQSLOD=4.1868;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,16:26:99:406,0,246 7 20421490 20421490 T C exonic ITGB8 synonymous SNV ITGB8:NM_002214:exon6:c.T942C:p.Y314Y 0.34 0.33 0.26 0.41 0.45 0.21 0.3882 0.3594 0.2128 0.4032 0.4986 0.4461 0.3830 0.2424 0.41 0.36 0.43 0.34 0.47 rs2230398 COSM150245 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3833 0.3580 0.2291 0.4341 0.4026 0.4921 0.4422 0.4017 0.2390 0.4234 0.3606 0.2983 0.4007 0.4088 0.4960 0.4525 0.4175 hom 4007.02 136 7 20421490 . T C 4007.02 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0297;MQ=59.66;MQ0=0;QD=29.46;VQSLOD=8.4150;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:136:99:4006,334,0 7 20683204 20683204 G T exonic ABCB5 synonymous SNV ABCB5:NM_001163941:exon7:c.G627T:p.V209V 0.045 0.0083 0.058 . 0.14 0.03 0.1034 0.0252 0.0518 0.0029 0.1951 0.1362 0.1446 0.0673 0.1 0.028 0.13 0.022 . rs7349983 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1038 0.0227 0.0594 0.1162 0.0016 0.1957 0.1352 0.1141 0.0651 0.1009 0.0273 0.0839 0.0795 0 0.1916 0.1331 0.1286 het 1467.90 110 7 20683204 . G T 1467.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.349;DP=110;Dels=0.00;FS=12.077;HRun=1;HaplotypeScore=4.4482;MQ=58.81;MQ0=0;MQRankSum=1.764;QD=13.34;ReadPosRankSum=0.185;VQSLOD=3.3061;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,58:110:99:1498,0,1438 7 20687181 20687181 C T exonic ABCB5 synonymous SNV ABCB5:NM_001163941:exon10:c.C1005T:p.S335S 0.22 0.4 0.17 0.041 0.21 0.21 0.3139 0.4396 0.3202 0.0842 0.3766 0.3119 0.3047 0.2850 0.26 0.38 0.21 0.28 . rs2893006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2064 0.3823 0.1500 0.2192 0.0341 0.2973 0.1965 0.2041 0.2450 0.2681 0.3980 0.1969 0.2152 0.0359 0.2970 0.2171 0.2510 het 107.69 13 7 20687181 . C T 107.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.074;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=52.36;MQ0=0;MQRankSum=1.791;QD=8.28;ReadPosRankSum=-0.811;VQSLOD=4.8972;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:138,0,150 7 20687604 20687604 A G exonic ABCB5 nonsynonymous SNV ABCB5:NM_001163941:exon11:c.A1109G:p.D370G 0.045 0.0083 0.059 . 0.14 0.03 0.1118 0.0273 0.0580 0.0027 0.1993 0.1464 0.1534 0.0749 0.1 0.028 0.13 0.022 . rs61732039 COSM4985643 6(soft_tissue) . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.998 0.875 D . . . 0.988 0.810 D . . . -2.4 0.885 D -5.92 0.889 D 0.039 0.089 -0.823 0.538 T 0.032 0.139 T . . . 3.889 0.524 23.5 0.998 0.916 0.952 0.634 D c 0.640 0.557 0.375 0.199 0.598 0.340 0 4.15 0.478 6.944 0.756 1.199 0.960 1.000 0.715 0.994 0.587 10.393 0.432 . . . 0.1039 0.0227 0.0599 0.1186 0.0013 0.1955 0.1348 0.1139 0.0649 0.1010 0.0268 0.0859 0.0861 0 0.1922 0.1332 0.1278 het 102.02 11 7 20687604 . A G 102.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.186;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=54.25;MQ0=0;MQRankSum=0.143;QD=9.27;ReadPosRankSum=-1.749;VQSLOD=4.6252;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:132,0,129 7 20691047 20691047 T C exonic ABCB5 startloss ABCB5:NM_001163942:exon4:c.T2C:p.V2_M49del,ABCB5:NM_001163993:exon4:c.T2C:p.V2_M49del,ABCB5:NM_178559:exon4:c.T2C:p.V2_M49del,ABCB5:NM_001163941:exon13:c.T1337C:p.M446T 0.1 0.029 0.094 0.04 0.21 0.16 0.1809 0.0530 0.0815 0.0392 0.3032 0.2152 0.2306 0.2144 0.15 0.06 0.2 0.043 0.17 rs34603556 . . . . . . . . . . . . . 1.0 0.784 T 0.146 0.277 B 0.119 0.310 B 0.229 0.159 U 0.000 0.810 P . . . -3.13 0.928 D 2.43 0.006 N 0.015 0.065 -0.977 0.357 T 0.001 0.004 T . . . -2.421 0.004 0.001 0.680 0.083 0.006 0.028 N c -1.127 -1.200 0.000 0.066 0.497 0.185 0 0.375 0.153 0.104 0.150 -1.007 0.022 0.002 0.151 0.016 0.126 9.288 0.367 AAA+ ATPase domain|ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.1793 0.0504 0.0863 0.2196 0.0344 0.3024 0.2101 0.1860 0.2112 0.1683 0.0560 0.1205 0.2119 0.0352 0.2965 0.2163 0.2234 het 1087.88 78 7 20691047 . T C 1087.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.704;DP=78;Dels=0.00;FS=4.580;HRun=0;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;MQRankSum=0.275;QD=13.95;ReadPosRankSum=1.425;VQSLOD=5.3061;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:1118,0,1110 7 20691219 20691219 G A exonic ABCB5 synonymous SNV ABCB5:NM_001163942:exon4:c.G174A:p.A58A,ABCB5:NM_001163993:exon4:c.G174A:p.A58A,ABCB5:NM_178559:exon4:c.G174A:p.A58A,ABCB5:NM_001163941:exon13:c.G1509A:p.A503A 0.051 0.028 0.062 . 0.14 0.03 0.1042 0.0385 0.0529 0.0030 0.1947 0.1362 0.1435 0.0671 0.1 0.043 0.13 0.022 0.11 rs61227829 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1052 0.0371 0.0606 0.1190 0.0013 0.1958 0.1353 0.1150 0.0648 0.1056 0.0434 0.0861 0.0861 0 0.1914 0.1332 0.1296 het 2770.32 224 7 20691219 . G A 2770.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.795;DP=224;DS;Dels=0.00;FS=1.717;HRun=0;HaplotypeScore=2.7214;MQ=59.43;MQ0=0;MQRankSum=1.026;QD=12.37;ReadPosRankSum=-0.494;VQSLOD=6.3179;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,105:224:99:2800,0,3049 7 20698270 20698270 A G exonic ABCB5 nonsynonymous SNV ABCB5:NM_001163942:exon5:c.A343G:p.K115E,ABCB5:NM_001163993:exon5:c.A343G:p.K115E,ABCB5:NM_178559:exon5:c.A343G:p.K115E,ABCB5:NM_001163941:exon14:c.A1678G:p.K560E 0.36 0.58 0.31 0.2 0.33 0.31 0.3368 0.5629 0.3098 0.2006 0.3812 0.3171 0.3535 0.3451 0.4 0.56 0.32 0.37 0.32 rs2301641 COSM4162084;COSM4162082;COSM4162083 1(breast);1(pancreas);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.997 0.229 P -2.31 0.001 N -0.33 0.868 T 3.51 0.001 N 0.116 0.189 -0.943 0.422 T 0.000 0.000 T . . . 0.353 0.128 6.191 0.192 0.006 0.161 0.190 N c -0.964 -0.671 0.027 0.138 0.487 0.133 0 4.69 0.584 6.853 0.751 0.063 0.168 1.000 0.715 0.102 0.190 12.502 0.551 AAA+ ATPase domain|ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase;ABC transporter type 1\x2c transmembrane domain . . 0.3329 0.5735 0.3240 0.3257 0.1953 0.3744 0.3147 0.3247 0.3395 0.3966 0.5775 0.3461 0.3046 0.1952 0.3653 0.3288 0.3391 hom 3727.04 133 7 20698270 . A G 3727.04 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=58.59;MQ0=0;QD=28.02;VQSLOD=8.1059;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3726,283,0 7 20762646 20762646 G T exonic ABCB5 nonsynonymous SNV ABCB5:NM_178559:exon12:c.G1094T:p.G365V,ABCB5:NM_001163941:exon21:c.G2429T:p.G810V 0.23 0.11 0.19 0.19 0.36 0.33 0.3049 0.1390 0.1752 0.2008 0.2161 0.3676 0.2919 0.3378 0.3 0.14 0.38 0.22 0.36 rs62453384 COSM3762563;COSM3762562 1(breast);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.001 0.912 D 1.0 0.899 D 0.994 0.807 D 0.010 0.302 N 0.000 0.588 P 3.17 0.889 M -2.75 0.908 D -8.27 0.969 D 0.224 0.480 -1.525 0.000 T 0.000 0.000 T . . . 6.232 0.860 28.8 0.997 0.826 0.863 0.453 D c 0.681 0.571 1.000 0.747 0.487 0.133 0 3.84 0.433 4.442 0.595 0.079 0.188 1.000 0.715 0.979 0.486 12.634 0.559 ABC transporter type 1\x2c transmembrane domain . . 0.2994 0.1363 0.1885 0.3932 0.1893 0.2120 0.3697 0.3292 0.3365 0.2680 0.1356 0.2458 0.4139 0.1849 0.2203 0.3623 0.2847 het 1679.26 125 7 20762646 . G T 1679.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.443;DP=125;Dels=0.00;FS=2.684;HRun=2;HaplotypeScore=0.8321;MQ=59.50;MQ0=0;MQRankSum=1.329;QD=13.43;ReadPosRankSum=0.671;VQSLOD=6.2602;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,67:125:99:1709,0,1688 7 20778646 20778646 G A exonic ABCB5 nonsynonymous SNV ABCB5:NM_178559:exon15:c.G1573A:p.E525K,ABCB5:NM_001163941:exon24:c.G2908A:p.E970K 0.76 0.64 0.86 0.82 0.82 0.71 0.8033 0.6645 0.8517 0.8195 0.8540 0.8262 0.8285 0.7333 0.77 0.67 0.83 0.76 0.76 rs6461515 . . . . . . . . . . . . . 0.105 0.298 T 0.066 0.221 B 0.046 0.233 B 0.003 0.355 N 0.479 0.319 P 1.215 0.307 L -1.36 0.801 T -1.22 0.368 N 0.111 0.234 -0.975 0.362 T 0.000 0.000 T . . . 3.145 0.438 22.6 0.996 0.737 0.577 0.302 D c -0.295 -0.167 0.997 0.351 0.487 0.133 0 4.11 0.472 2.044 0.406 0.998 0.613 0.991 0.370 0.957 0.436 7.685 0.275 AAA+ ATPase domain|ABC transporter\x2c conserved site|ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase;ABC transporter type 1\x2c transmembrane domain . . 0.8081 0.6589 0.8426 0.8109 0.8184 0.8542 0.8271 0.8183 0.7334 0.7844 0.6571 0.8544 0.8013 0.8244 0.8528 0.8320 0.8153 het 880.46 64 7 20778646 . G A 880.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.698;DP=64;Dels=0.00;FS=3.500;HRun=3;HaplotypeScore=1.6498;MQ=59.42;MQ0=0;MQRankSum=0.332;QD=13.76;ReadPosRankSum=-0.507;VQSLOD=6.6322;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,36:64:99:910,0,723 7 21628237 21628237 C T exonic DNAH11 synonymous SNV DNAH11:NM_001277115:exon11:c.C1956T:p.F652F 0.99 0.99 0.99 1. 0.99 0.98 0.9904 0.9964 0.9936 1 0.9977 0.9892 0.9889 0.9820 0.99 1. 0.99 0.99 . rs6963535 . . Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150428.2|RCV000381934.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9905 0.9965 0.9931 0.9861 0.9999 0.9974 0.9887 0.9887 0.9824 0.9926 0.9973 0.9916 0.9735 1 0.9977 0.9885 0.9898 hom 3377.92 101 7 21628237 . C T 3377.92 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=33.44;VQSLOD=9.3598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3377,271,0 7 21640361 21640361 T C exonic DNAH11 nonsynonymous SNV DNAH11:NM_001277115:exon16:c.T3068C:p.V1023A 0.22 0.15 0.31 0.02 0.43 0.25 0.3529 0.1665 0.3223 0.0150 0.4545 0.4403 0.3822 0.2661 0.35 0.18 0.43 0.27 . rs10269582 . . Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000155485.2|RCV000274400.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 1.0 0.010 T 0.029 0.185 B 0.012 0.149 B 0.001 0.394 N 0.085 0.365 P 1.065 0.271 L 1.97 0.221 T -1.66 0.397 N 0.147 0.203 -0.962 0.388 T 0.000 0.000 T . . . -0.675 0.046 0.082 0.213 0.008 0.904 0.512 D c -0.385 -0.246 0.002 0.090 0.554 0.246 0 4.49 0.540 0.927 0.282 1.061 0.807 0.608 0.276 0.718 0.314 10.789 0.454 . ENSG00000105877.13|ENSG00000105877.13|ENSG00000105877.13 Esophagus_Mucosa|Esophagus_Muscularis|Thyroid 0.3551 0.1644 0.3232 0.4032 0.0127 0.4635 0.4419 0.4039 0.2604 0.3508 0.1714 0.3498 0.3867 0.0099 0.4679 0.4594 0.4213 hom 8641.91 250 7 21640361 . T C 8641.91 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3578;MQ=59.04;MQ0=0;QD=34.57;VQSLOD=8.2162;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8606,671,0 7 21640405 21640405 A G exonic DNAH11 nonsynonymous SNV DNAH11:NM_001277115:exon16:c.A3112G:p.T1038A 0.77 0.76 0.7 0.81 0.82 0.72 0.7887 0.7480 0.6443 0.8035 0.8307 0.8342 0.7778 0.7059 0.82 0.77 0.84 0.81 . rs10224537 COSM4004410;COSM4004409 3(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150431.2|RCV000320059.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.442 0.092 T 0.0 0.026 B 0.0 0.013 B 0.098 0.200 N 1 0.090 P -1.885 0.002 N 2.01 0.213 T 1.22 0.011 N 0.104 0.109 -1.040 0.173 T 0.000 0.000 T . . . -0.265 0.071 0.796 0.887 0.176 0.025 0.068 N c -0.832 -0.769 0.000 0.070 0.638 0.428 0 3.64 0.407 0.361 0.199 -0.305 0.080 0.000 0.063 0.247 0.227 9.421 0.375 . ENSG00000105877.13 Artery_Aorta 0.7826 0.7451 0.6547 0.7359 0.8105 0.8284 0.8394 0.7822 0.7026 0.8085 0.7448 0.6981 0.6954 0.8147 0.8311 0.8458 0.8411 hom 7323.93 228 7 21640405 . A G 7323.93 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.641;DP=228;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6966;MQ=58.97;MQ0=0;MQRankSum=1.671;QD=32.12;ReadPosRankSum=0.191;VQSLOD=6.9235;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,227:228:99:7297,582,0 7 21641218 21641218 G A exonic DNAH11 synonymous SNV DNAH11:NM_001277115:exon18:c.G3630A:p.Q1210Q 0.75 0.75 0.69 0.78 0.81 0.71 0.7847 0.7425 0.6548 0.7850 0.8341 0.8270 0.7613 0.7037 0.8 0.75 0.83 0.79 . rs3827657 COSM5425338;COSM5425339 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150433.2|RCV000308821.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7725 0.7319 0.6484 0.6883 0.7923 0.8276 0.8303 0.7716 0.6862 0.7995 0.7337 0.6862 0.6533 0.8028 0.8299 0.8375 0.8323 hom 894.84 31 7 21641218 . G A 894.84 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.38;MQ0=0;QD=28.87;VQSLOD=8.6111;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:69.22:928,69,0 7 21765452 21765452 C T exonic DNAH11 synonymous SNV DNAH11:NM_001277115:exon45:c.C7290T:p.F2430F 0.36 0.26 0.44 0.2 0.5 0.48 0.4788 0.2946 0.4485 0.2203 0.5003 0.5231 0.4773 0.5475 0.44 0.28 0.51 0.33 . rs12536928 COSM3762587;COSM3762586 1(breast);1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000079626.6|RCV000319765.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4537 0.2676 0.4146 0.4050 0.2014 0.4824 0.5093 0.4615 0.5237 0.4144 0.2794 0.4019 0.4470 0.1959 0.4771 0.5004 0.4416 het 394.17 33 7 21765452 . C T 394.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.368;DP=33;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=54.67;MQ0=0;MQRankSum=-0.090;QD=11.94;ReadPosRankSum=-1.387;VQSLOD=6.3386;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,17:33:99:424,0,466 7 21775387 21775387 T C exonic DNAH11 synonymous SNV DNAH11:NM_001277115:exon46:c.T7570C:p.L2524L 0.17 0.28 0.21 0.21 0.029 0.079 0.0907 0.2418 0.2539 0.2100 0.0399 0.0365 0.0878 0.0637 0.093 0.22 0.033 0.21 . rs2072220 COSM4004416;COSM4004417 1(breast);4(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000150440.2|RCV000346440.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0967 0.2507 0.2512 0.0645 0.2096 0.0405 0.0355 0.0869 0.0634 0.1085 0.2428 0.2160 0.0331 0.1961 0.0401 0.0350 0.0735 het 2160.42 141 7 21775387 . T C 2160.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.922;DP=141;Dels=0.00;FS=0.648;HRun=0;HaplotypeScore=2.5439;MQ=59.11;MQ0=0;MQRankSum=1.022;QD=15.32;ReadPosRankSum=-1.051;VQSLOD=6.2690;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,78:141:99:2190,0,1561 7 21775443 21775443 G A exonic DNAH11 synonymous SNV DNAH11:NM_001277115:exon46:c.G7626A:p.T2542T 0.76 0.8 0.87 0.53 0.87 0.73 0.8234 0.7926 0.8616 0.5236 0.9064 0.8613 0.8096 0.7855 0.86 0.85 0.86 0.75 . rs2072221 COSM5619194;COSM5619195 1(breast) Benign|Benign\x2cBenign|other not_specified|Primary_ciliary_dyskinesia\x2cnot_specified|Primary_ciliary_dyskinesia RCV000150441.2|RCV000393961.1\x2cRCV000250868.1|RCV000306683.1 MedGen|MedGen:Orphanet\x2cMedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244\x2cCN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8262 0.7960 0.8650 0.7770 0.5210 0.9003 0.8666 0.8325 0.7845 0.8323 0.7913 0.8329 0.7483 0.5087 0.9007 0.8751 0.8564 hom 4781.18 147 7 21775443 . G A 4781.18 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=59.15;MQ0=0;QD=32.53;VQSLOD=9.3358;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4781,373,0 7 21778449 21778449 C T exonic DNAH11 synonymous SNV DNAH11:NM_001277115:exon47:c.C7776T:p.H2592H 0.54 0.59 0.57 0.24 0.7 0.58 0.6409 0.6168 0.5299 0.2519 0.6952 0.7019 0.6591 0.6427 0.66 0.61 0.69 0.55 . rs1109806 . . Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150443.2|RCV000314436.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6130 0.5977 0.5104 0.6126 0.2211 0.6756 0.6939 0.6373 0.6164 0.6355 0.6104 0.5097 0.5927 0.2170 0.6823 0.6918 0.6407 hom 726.77 26 7 21778449 . C T 726.77 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=27.95;VQSLOD=8.4547;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:60.18:760,60,0 7 21779278 21779278 A G exonic DNAH11 nonsynonymous SNV DNAH11:NM_001277115:exon48:c.A7901G:p.N2634S 0.37 0.22 0.52 0.081 0.65 0.49 0.5341 0.2639 0.4587 0.0625 0.6446 0.6327 0.5456 0.5499 0.53 0.31 0.63 0.33 . rs9639393 COSM5618328;COSM5618327 1(breast);1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150444.2|RCV000274614.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.051 0.393 T . . . . . . 0.000 0.463 N 0.017 0.400 P . . . 1.15 0.382 T -3.52 0.684 D 0.026 0.008 -0.975 0.362 T 0.000 0.000 T . . . 0.877 0.178 9.928 0.954 0.263 0.945 0.613 D c -0.337 -0.345 0.000 0.069 0.554 0.283 0 3.33 0.371 4.522 0.600 0.234 0.260 1.000 0.715 0.412 0.256 6.095 0.191 AAA+ ATPase domain|P-loop containing nucleoside triphosphate hydrolase;P-loop containing nucleoside triphosphate hydrolase . . 0.5348 0.2604 0.4639 0.5332 0.0640 0.6414 0.6393 0.5615 0.5512 0.4980 0.2739 0.4484 0.5331 0.0595 0.6442 0.6387 0.5684 het 1349.89 102 7 21779278 . A G 1349.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.598;DP=102;Dels=0.00;FS=0.769;HRun=0;HaplotypeScore=2.4326;MQ=59.16;MQ0=0;MQRankSum=0.097;QD=13.23;ReadPosRankSum=-1.505;VQSLOD=6.3609;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,54:102:99:1380,0,1230 7 21856151 21856151 G A exonic DNAH11 nonsynonymous SNV DNAH11:NM_001277115:exon64:c.G10399A:p.A3467T 0.48 0.38 0.49 0.81 0.34 0.43 0.4297 0.4112 0.5754 0.8241 0.3728 0.3545 0.4037 0.4533 0.35 0.38 0.33 0.42 . rs2214326 . . Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000155492.3|RCV000391240.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.006 0.112 B 0.419 0.046 N 1 0.090 P 0.955 0.240 L 1.95 0.225 T 0.83 0.018 N 0.04 0.020 -0.934 0.435 T 0.000 0.000 T . . . -2.319 0.005 0.001 0.387 0.026 0.073 0.132 N c -2.136 -2.257 0.996 0.345 0.554 0.246 0 -11.6 0.000 -0.144 0.102 -3.973 0.000 0.000 0.063 0.008 0.104 19.934 0.971 . . . 0.4189 0.3910 0.5597 0.2749 0.8215 0.3623 0.3407 0.3974 0.4287 0.3831 0.3889 0.4832 0.21 0.8224 0.3494 0.3394 0.3635 het 581.45 35 7 21856151 . G A 581.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.768;DP=35;Dels=0.00;FS=5.610;HRun=0;HaplotypeScore=2.9921;MQ=58.67;MQ0=0;MQRankSum=0.354;QD=16.61;ReadPosRankSum=-1.364;VQSLOD=4.6157;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,21:35:99:611,0,377 7 21893993 21893993 G T exonic DNAH11 nonsynonymous SNV DNAH11:NM_001277115:exon68:c.G11122T:p.V3708L 0.46 0.36 0.54 0.33 0.71 0.42 0.5705 0.4041 0.4481 0.3237 0.6376 0.6696 0.6027 0.4539 0.6 0.42 0.68 0.47 . rs4722064 COSM4162089;COSM4162090 1(thyroid) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150452.2|RCV000366779.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.01 0.564 D . . . . . . 0.000 0.629 D 0.000 0.489 P . . . 1.86 0.243 T -1.78 0.420 N 0.312 0.373 -0.976 0.359 T 0.000 0.000 T . . . 6.487 0.894 30 0.997 0.831 0.989 0.880 D c 0.427 0.512 1.000 0.747 0.554 0.246 0 5.69 0.883 3.282 0.512 1.048 0.713 1.000 0.715 1.000 0.888 18.593 0.911 . . . 0.5709 0.4011 0.4579 0.6712 0.3248 0.6308 0.6761 0.5976 0.4547 0.5662 0.4105 0.4988 0.6987 0.3306 0.6307 0.6653 0.6100 het 608.53 53 7 21893993 . G T 608.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.087;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;MQRankSum=0.258;QD=11.48;ReadPosRankSum=-0.471;VQSLOD=6.9433;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,27:53:99:639,0,725 7 21901566 21901566 T C exonic DNAH11 synonymous SNV DNAH11:NM_001277115:exon69:c.T11298C:p.H3766H 0.63 0.58 0.65 0.54 0.82 0.61 0.7255 0.5955 0.5596 0.5326 0.7599 0.8078 0.7774 0.6695 0.76 0.62 0.82 0.62 . rs4722067 COSM4004421;COSM4004420 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150457.2|RCV000343229.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7212 0.5843 0.5675 0.8139 0.5405 0.7607 0.8114 0.7469 0.6681 0.7197 0.5874 0.6110 0.8344 0.5546 0.7683 0.8046 0.7515 het 926.29 68 7 21901566 . T C 926.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.403;DP=68;Dels=0.00;FS=3.562;HRun=0;HaplotypeScore=4.8165;MQ=59.45;MQ0=0;MQRankSum=2.155;QD=13.62;ReadPosRankSum=-1.352;VQSLOD=4.4593;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,38:68:99:956,0,846 7 21924014 21924014 A G exonic DNAH11 nonsynonymous SNV DNAH11:NM_001277115:exon76:c.A12493G:p.M4165V 0.62 0.33 0.63 0.66 0.85 0.74 0.7558 0.4003 0.5762 0.6806 0.8666 0.8381 0.7723 0.7533 0.72 0.44 0.85 0.61 . rs6461613 COSM5617829;COSM5617828 1(breast) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000155495.2|RCV000377139.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.136 0.260 T 0.716 0.403 P 0.268 0.381 B 0.000 0.843 D 0.000 0.492 P 1.65 0.424 L 3.14 0.079 T -1.48 0.362 N 0.165 0.199 -1.147 0.011 T 0.000 0.000 T . . . 2.602 0.374 20.2 0.960 0.279 0.918 0.539 D c 0.308 0.403 0.997 0.349 0.581 0.330 0 5.7 0.886 3.692 0.542 1.199 0.960 1.000 0.715 1.000 0.888 12.383 0.545 Dynein heavy chain domain . . 0.7570 0.3929 0.5961 0.8279 0.6823 0.8628 0.8403 0.7758 0.7451 0.6964 0.3959 0.6527 0.8079 0.6850 0.8661 0.8261 0.8020 hom 2945.51 93 7 21924014 . A G 2945.51 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8893;MQ=59.03;MQ0=0;QD=31.67;VQSLOD=8.4991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2979,238,0 7 21932044 21932044 C T exonic DNAH11 nonsynonymous SNV DNAH11:NM_001277115:exon77:c.C12509T:p.T4170I 0.37 0.25 0.3 0.47 0.42 0.41 0.3979 0.2771 0.2924 0.4740 0.4763 0.4173 0.3933 0.3941 0.37 0.27 0.41 0.36 . rs12537531 COSM4004424;COSM4004425 1(haematopoietic_and_lymphoid_tissue) Uncertain significance\x2cBenign|Likely benign not_specified\x2cnot_specified|Primary_ciliary_dyskinesia RCV000279310.1\x2cRCV000155497.2|RCV000322637.1 MedGen\x2cMedGen|MedGen:Orphanet CN169374\x2cCN169374|C0008780:ORPHA244 . . . . . . 0.675 0.045 T 0.0 0.026 B 0.001 0.040 B 0.221 0.161 N 1.000 0.189 P -2.105 0.002 N 3.36 0.059 T 2.24 0.003 N 0.063 0.048 -0.936 0.433 T 0.000 0.000 T . . . 1.447 0.237 13.03 0.656 0.076 0.039 0.092 N c -0.377 -0.412 0.004 0.105 0.660 0.495 0 0.875 0.182 1.493 0.350 -0.224 0.096 1.000 0.715 0.975 0.474 6.494 0.212 Dynein heavy chain domain . . 0.3949 0.2739 0.2966 0.3463 0.4761 0.4766 0.4230 0.3979 0.3705 0.3837 0.2876 0.3237 0.3046 0.4683 0.4614 0.4157 0.4092 hom 7858.71 248 7 21932044 . C T 7858.71 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7799;MQ=59.35;MQ0=0;QD=31.69;VQSLOD=9.2041;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7858,620,0 7 22202117 22202117 G A exonic RAPGEF5 synonymous SNV RAPGEF5:NM_012294:exon13:c.C867T:p.D289D 0.59 0.68 0.44 0.61 0.56 0.61 0.5594 0.6521 0.4329 0.6131 0.5721 0.5526 0.5893 0.5857 0.58 0.66 0.55 0.54 . rs12592 COSM4004426 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5520 0.6550 0.4347 0.5537 0.6161 0.5693 0.5517 0.5268 0.5857 0.5848 0.6447 0.4594 0.6093 0.6267 0.5819 0.5549 0.55 het 956.77 92 7 22202117 . G A 956.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.454;DP=92;Dels=0.00;FS=0.811;HRun=0;HaplotypeScore=0.9989;MQ=59.73;MQ0=0;MQRankSum=1.565;QD=10.40;ReadPosRankSum=-1.432;VQSLOD=5.2467;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,43:92:99:987,0,1212 7 23015831 23015831 T C exonic FAM126A synonymous SNV FAM126A:NM_032581:exon7:c.A624G:p.S208S 0.37 0.36 0.33 0.47 0.36 0.35 0.3738 0.3545 0.4026 0.4830 0.3548 0.3598 0.3557 0.3736 0.34 0.34 0.34 0.3 0.24 rs3735231 COSM5419979 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(oesophagus) Benign|Benign Hypomyelination_and_Congenital_Cataract|not_specified RCV000020929.3|RCV000244607.1 MedGen:OMIM|MedGen C2674508:610532|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3693 0.3551 0.3870 0.4157 0.4870 0.3470 0.3479 0.3571 0.3716 0.3517 0.3419 0.3182 0.4205 0.5025 0.3678 0.3381 0.3503 hom 3846.38 128 7 23015831 . T C 3846.38 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=30.05;VQSLOD=8.7501;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:3846,304,0 7 23164701 23164701 C T exonic KLHL7 synonymous SNV KLHL7:NM_001031710:exon4:c.C352T:p.L118L,KLHL7:NM_001172428:exon4:c.C352T:p.L118L,KLHL7:NM_018846:exon4:c.C208T:p.L70L 0.42 0.71 0.32 0.35 0.34 0.26 0.3537 0.6442 0.2021 0.3226 0.2745 0.3693 0.3486 0.2625 0.46 0.63 0.37 0.56 0.28 rs15775 . . Likely benign Retinitis_Pigmentosa\x2c_Dominant RCV000322908.1 MedGen CN239354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3435 0.6530 0.2195 0.3698 0.3228 0.2808 0.3731 0.3573 0.2640 0.4313 0.6345 0.2572 0.3576 0.3150 0.2951 0.3720 0.3781 hom 2532.48 84 7 23164701 . C T 2532.48 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;QD=30.15;VQSLOD=8.9721;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2565,208,0 7 23296533 23296533 G A exonic GPNMB synonymous SNV GPNMB:NM_001005340:exon4:c.G390A:p.P130P,GPNMB:NM_002510:exon4:c.G390A:p.P130P 0.37 0.54 0.36 0.13 0.38 0.37 0.3703 0.4936 0.2432 0.1398 0.3635 0.4037 0.3675 0.3705 0.43 0.49 0.41 0.42 0.31 rs199355 COSM4004434 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3643 0.4955 0.2564 0.4201 0.1386 0.3657 0.4056 0.3985 0.3687 0.4110 0.4926 0.2924 0.4040 0.1318 0.3798 0.4079 0.4100 hom 1938.78 58 7 23296533 . G A 1938.78 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=58.06;MQ0=0;QD=33.43;VQSLOD=9.0120;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1972,165,0 7 23731172 23731172 C T exonic FAM221A synonymous SNV FAM221A:NM_001127365:exon3:c.C420T:p.S140S,FAM221A:NM_001300932:exon3:c.C420T:p.S140S,FAM221A:NM_001127364:exon4:c.C594T:p.S198S,FAM221A:NM_199136:exon4:c.C594T:p.S198S 0.0002 . . . 0.001 . 0.0031 0.0009 0.0003 0 0.0091 0.0042 0.0044 0.0011 0.0031 0.0018 0.0037 . 0.0082 rs148660873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0037 0.0007 0.0007 0.0016 0 0.0108 0.0053 0.0015 0.0009 0.0057 0.0006 0 0 0 0.0092 0.0091 0.0041 het 2621.54 213 7 23731172 . C T 2621.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.809;DP=213;Dels=0.00;FS=3.139;HRun=1;HaplotypeScore=3.9903;MQ=58.81;MQ0=0;MQRankSum=-2.131;QD=12.31;ReadPosRankSum=0.208;VQSLOD=2.6272;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:106,107:213:99:2652,0,2814 7 23775454 23775454 G A exonic STK31 nonsynonymous SNV STK31:NM_001260504:exon7:c.G712A:p.E238K,STK31:NM_001260505:exon7:c.G781A:p.E261K,STK31:NM_031414:exon7:c.G781A:p.E261K,STK31:NM_032944:exon7:c.G712A:p.E238K 0.085 0.058 0.12 0.031 0.17 0.059 0.1354 0.0690 0.0735 0.0339 0.1239 0.1875 0.1222 0.0678 0.15 0.08 0.19 0.11 0.26 rs10264952 COSM3736437 1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.142 0.262 T 0.002 0.214 B 0.001 0.206 B 0.032 0.251 N 0.956 0.263 P 0 0.065 N 1.98 0.219 T -0.36 0.131 N 0.062 0.121 -1.019 0.240 T 0.000 0.000 T . . . 1.207 0.211 11.78 0.990 0.504 0.822 0.412 D c -0.287 -0.108 0.001 0.078 0.487 0.133 0 5.16 0.704 4.879 0.626 0.993 0.603 1.000 0.715 0.216 0.221 10.031 0.411 . ENSG00000196335.8|ENSG00000196335.8|ENSG00000188732.6 Esophagus_Mucosa|Testis|Thyroid 0.1332 0.0674 0.0826 0.2258 0.0336 0.1236 0.1835 0.1575 0.0682 0.1361 0.0779 0.1089 0.1821 0.0277 0.1252 0.1839 0.1497 het 801.96 81 7 23775454 . G A 801.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.087;DP=81;Dels=0.00;FS=0.859;HRun=1;HaplotypeScore=4.8174;MQ=58.67;MQ0=0;MQRankSum=0.238;QD=9.90;ReadPosRankSum=-1.385;VQSLOD=4.9633;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,31:81:99:832,0,1440 7 23775477 23775477 G T exonic STK31 nonsynonymous SNV STK31:NM_001260504:exon7:c.G735T:p.K245N,STK31:NM_001260505:exon7:c.G804T:p.K268N,STK31:NM_031414:exon7:c.G804T:p.K268N,STK31:NM_032944:exon7:c.G735T:p.K245N 0.09 0.077 0.12 0.031 0.17 0.06 0.1382 0.0841 0.0738 0.0347 0.1242 0.1882 0.1236 0.0716 0.16 0.092 0.19 0.11 0.28 rs10264967 COSM3736438 1(skin);1(large_intestine) . . . . . . . . . . . 0.039 0.427 D 0.988 0.604 D 0.737 0.537 P 0.000 0.473 D 0.797 0.291 P 2.14 0.601 M 2.06 0.205 T -0.73 0.206 N 0.156 0.275 -1.092 0.052 T 0.000 0.000 T . . . 1.445 0.236 13.02 0.998 0.855 0.818 0.408 D c 0.373 0.312 0.000 0.071 0.487 0.133 0 4.71 0.589 3.702 0.543 0.993 0.603 1.000 0.715 0.312 0.239 11.185 0.477 . ENSG00000196335.8|ENSG00000196335.8|ENSG00000188732.6 Esophagus_Mucosa|Testis|Thyroid 0.1361 0.0828 0.0869 0.2289 0.0350 0.1239 0.1841 0.1587 0.0686 0.1399 0.0911 0.1100 0.1821 0.0296 0.1251 0.1837 0.1517 het 859.94 105 7 23775477 . G T 859.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.957;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;MQRankSum=-0.149;QD=8.19;ReadPosRankSum=0.652;VQSLOD=5.7987;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,38:105:99:890,0,1820 7 23794029 23794029 G A exonic STK31 nonsynonymous SNV STK31:NM_001260504:exon10:c.G1160A:p.G387E,STK31:NM_001260505:exon10:c.G1229A:p.G410E,STK31:NM_031414:exon10:c.G1229A:p.G410E,STK31:NM_032944:exon10:c.G1160A:p.G387E 0.22 0.2 0.31 0.21 0.13 0.28 0.1909 0.2034 0.4139 0.1790 0.1526 0.1375 0.1751 0.2649 0.16 0.2 0.14 0.27 0.098 rs4722266 COSM4004435 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.219 0.162 N 0.998 0.223 P -1.7 0.004 N 2.7 0.122 T 1.09 0.013 N 0.095 0.134 -0.926 0.447 T 0.000 0.000 T . . . 0.179 0.111 4.452 0.521 0.046 0.102 0.156 N c -0.921 -0.637 0.000 0.029 0.554 0.246 0 3.36 0.374 2.964 0.486 0.162 0.245 0.991 0.370 0.926 0.400 6.218 0.197 . ENSG00000196335.8|ENSG00000188732.6|ENSG00000188732.6 Esophagus_Mucosa|Muscle_Skeletal|Thyroid 0.1972 0.2019 0.3991 0.0799 0.1759 0.1475 0.1412 0.1734 0.2683 0.1668 0.1981 0.3389 0.0927 0.1541 0.1435 0.1477 0.1589 het 1618.21 135 7 23794029 . G A 1618.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.009;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7601;MQ=58.71;MQ0=0;MQRankSum=-0.656;QD=11.99;ReadPosRankSum=0.731;VQSLOD=6.0540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,62:135:99:1648,0,1951 7 23811795 23811795 T G exonic STK31 nonsynonymous SNV STK31:NM_001260504:exon15:c.T1794G:p.N598K,STK31:NM_001260505:exon15:c.T1863G:p.N621K,STK31:NM_031414:exon15:c.T1863G:p.N621K,STK31:NM_032944:exon15:c.T1794G:p.N598K 0.097 0.045 0.13 0.058 0.21 0.064 0.1550 0.0592 0.0822 0.0588 0.1611 0.2128 0.1478 0.0779 0.16 0.069 0.21 0.13 0.26 rs10263079 COSM3736439 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . 0.038 0.427 D 0.956 0.527 P 0.468 0.449 P 0.000 0.537 D 0.140 0.354 P 2.44 0.710 M -0.45 0.699 T -1.51 0.373 N 0.095 0.218 -1.105 0.035 T 0.000 0.001 T . . . 4.873 0.654 24.9 0.995 0.682 0.805 0.398 D c -0.052 -0.078 0.000 0.012 0.554 0.246 0 1.51 0.220 1.503 0.351 -0.332 0.074 1.000 0.715 0.992 0.562 8.699 0.333 . ENSG00000196335.8|ENSG00000196335.8|ENSG00000188732.6 Esophagus_Mucosa|Testis|Thyroid 0.1531 0.0563 0.0905 0.2344 0.0546 0.1559 0.2077 0.1811 0.0780 0.1487 0.0643 0.1151 0.1887 0.0527 0.1550 0.2070 0.1609 het 454.82 38 7 23811795 . T G 454.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.791;DP=38;Dels=0.00;FS=3.132;HRun=0;HaplotypeScore=0.0000;MQ=57.02;MQ0=0;MQRankSum=-0.117;QD=11.97;ReadPosRankSum=0.881;VQSLOD=3.7305;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,17:38:99:485,0,529 7 23811800 23811800 G T exonic STK31 nonsynonymous SNV STK31:NM_001260504:exon15:c.G1799T:p.S600I,STK31:NM_001260505:exon15:c.G1868T:p.S623I,STK31:NM_031414:exon15:c.G1868T:p.S623I,STK31:NM_032944:exon15:c.G1799T:p.S600I 0.074 0.043 0.091 0.048 0.16 0.045 0.1216 0.0518 0.0588 0.0526 0.1444 0.1662 0.1133 0.0548 0.13 0.06 0.16 0.12 0.18 rs10247878 COSM3736440 1(skin);1(large_intestine) . . . . . . . . . . . 0.135 0.262 T 0.664 0.391 P 0.125 0.310 B 0.001 0.426 D 0.992 0.240 P 2.48 0.723 M -0.52 0.707 T -1.58 0.397 N 0.141 0.312 -1.093 0.050 T 0.001 0.004 T . . . 2.250 0.332 17.84 0.947 0.247 0.674 0.332 D c -0.343 -0.267 0.000 0.012 0.554 0.246 0 2.34 0.279 0.931 0.283 -0.865 0.028 0.951 0.329 0.941 0.415 8.460 0.319 . ENSG00000196335.8 Testis 0.1176 0.0497 0.0641 0.1457 0.0487 0.1403 0.1617 0.1331 0.0536 0.1201 0.0575 0.0887 0.1424 0.0464 0.1411 0.1599 0.1354 het 514.50 39 7 23811800 . G T 514.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.442;DP=39;Dels=0.00;FS=4.945;HRun=1;HaplotypeScore=0.0000;MQ=57.09;MQ0=0;MQRankSum=0.801;QD=13.19;ReadPosRankSum=-0.098;VQSLOD=4.2227;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,20:39:99:544,0,543 7 24325009 24325009 G A exonic NPY synonymous SNV NPY:NM_000905:exon2:c.G150A:p.S50S 0.51 0.36 0.66 0.64 0.51 0.5 0.5303 0.3825 0.7246 0.6555 0.5228 0.5071 0.5067 0.5185 0.46 0.37 0.5 0.48 0.45 rs5573 COSM1450096 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5405 0.3698 0.7116 0.5425 0.6533 0.5236 0.5053 0.5359 0.5137 0.4842 0.3703 0.6643 0.5099 0.6538 0.5249 0.5083 0.5398 het 1000.13 70 7 24325009 . G A 1000.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.859;DP=70;Dels=0.00;FS=3.325;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=-0.494;QD=14.29;ReadPosRankSum=0.718;VQSLOD=6.1750;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:1030,0,967 7 24329133 24329133 C T exonic NPY synonymous SNV NPY:NM_000905:exon3:c.C204T:p.S68S 0.37 0.33 0.43 0.35 0.47 0.32 0.4330 0.3589 0.4552 0.3558 0.4623 0.4714 0.4152 0.3390 0.43 0.36 0.47 0.4 0.43 rs5574 COSM3762595 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4292 0.3415 0.4373 0.4795 0.3447 0.4694 0.4660 0.4406 0.3216 0.4325 0.3505 0.4700 0.4801 0.3641 0.4699 0.4729 0.4734 het 1142.93 84 7 24329133 . C T 1142.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.475;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=59.28;MQ0=0;MQRankSum=0.771;QD=13.61;ReadPosRankSum=1.318;VQSLOD=6.4300;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,45:84:99:1173,0,1073 7 25181912 25181912 T C exonic C7orf31 nonsynonymous SNV C7orf31:NM_138811:exon9:c.A899G:p.H300R 0.55 0.39 0.61 0.47 0.68 0.65 0.6414 0.4171 0.5915 0.4740 0.7476 0.6885 0.6358 0.6730 0.6 0.42 0.68 0.55 0.55 rs2285738 . . . . . . . . . . . . . 0.156 0.241 T 0.047 0.206 B 0.032 0.208 B 0.004 0.340 N 0.803 0.291 P 1.63 0.419 L 3.34 0.061 T -3.51 0.683 D 0.087 0.120 -1.074 0.085 T 0.000 0.000 T . . . 1.652 0.260 14.14 0.978 0.353 0.895 0.497 D c -0.165 -0.002 0.202 0.181 0.615 0.372 0 4.6 0.564 3.274 0.511 1.011 0.635 1.000 0.715 1.000 0.888 10.448 0.435 . ENSG00000172115.4 Colon_Transverse 0.6447 0.4085 0.5983 0.6616 0.4716 0.7529 0.6863 0.6466 0.6749 0.6182 0.4232 0.6074 0.6623 0.4528 0.7610 0.7110 0.6881 het 1746.13 114 7 25181912 . T C 1746.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.203;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7016;MQ=59.62;MQ0=0;MQRankSum=-0.157;QD=15.32;ReadPosRankSum=1.140;VQSLOD=5.8559;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,76:114:99:1776,0,855 7 25182405 25182405 G T exonic C7orf31 nonsynonymous SNV C7orf31:NM_138811:exon8:c.C713A:p.P238Q 0.21 0.42 0.12 0.16 0.17 0.086 0.1626 0.3973 0.1169 0.1842 0.1556 0.1435 0.1781 0.1 0.23 0.39 0.14 0.22 0.2 rs11984293 COSM5425548 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.966 0.021 T 0.518 0.356 P 0.147 0.324 B 0.004 0.337 N 0.809 0.290 P 1.585 0.400 L 3.35 0.060 T 1.43 0.008 N 0.078 0.094 -0.998 0.306 T 0.000 0.000 T . . . 3.452 0.473 23.0 0.886 0.175 0.436 0.269 N c -0.080 0.094 0.081 0.159 0.615 0.372 0 4.55 0.553 3.206 0.506 0.998 0.613 1.000 0.715 1.000 0.888 7.453 0.263 . . . 0.1572 0.4046 0.1194 0.1410 0.1801 0.1583 0.1432 0.1604 0.0879 0.2124 0.4032 0.1331 0.0960 0.1813 0.1426 0.1323 0.1493 het 1563.79 106 7 25182405 . G T 1563.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.238;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6764;MQ=58.49;MQ0=0;MQRankSum=1.080;QD=14.75;ReadPosRankSum=-0.435;VQSLOD=5.7411;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,61:106:99:1594,0,1070 7 25194665 25194665 G C exonic C7orf31 nonsynonymous SNV C7orf31:NM_138811:exon6:c.C560G:p.T187S 0.54 0.59 0.5 0.42 0.61 0.55 0.5624 0.5938 0.4576 0.4207 0.5159 0.6078 0.5651 0.5252 0.6 0.59 0.61 0.5 0.61 rs2523072 COSM4162109 1(thyroid) . . . . . . . . . . . 0.445 0.091 T 0.994 0.647 D 0.922 0.640 D 0.005 0.330 N 0.695 0.301 P 2.01 0.549 M 2.87 0.104 T -0.73 0.206 N 0.189 0.272 -1.083 0.067 T 0.000 0.000 T . . . 2.590 0.372 20.1 0.993 0.586 0.886 0.483 D c 0.297 0.273 0.999 0.386 0.615 0.372 0 5.36 0.765 2.269 0.428 1.048 0.713 0.990 0.367 0.712 0.312 14.589 0.678 . . . 0.5585 0.6016 0.4762 0.6467 0.4127 0.5243 0.6066 0.5641 0.5293 0.5696 0.5993 0.4797 0.6457 0.4083 0.5066 0.5894 0.5470 het 958.99 82 7 25194665 . G C 958.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.939;DP=82;Dels=0.00;FS=0.849;HRun=0;HaplotypeScore=0.9159;MQ=59.26;MQ0=0;MQRankSum=0.463;QD=11.70;ReadPosRankSum=-1.752;VQSLOD=5.5677;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,36:82:99:989,0,1218 7 25194753 25194753 C T exonic C7orf31 nonsynonymous SNV C7orf31:NM_138811:exon6:c.G472A:p.A158T 0.28 0.048 0.39 0.16 0.49 0.43 0.4160 0.1051 0.3627 0.1509 0.4313 0.5044 0.4015 0.4260 0.37 0.12 0.5 0.29 0.5 rs12535348 COSM150253 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.052 0.390 T 0.992 0.629 D 0.752 0.543 P 0.001 0.428 D 0.343 0.330 P 2.505 0.732 M 2.98 0.094 T -2.87 0.603 D 0.254 0.386 -0.897 0.483 T 0.000 0.000 T . . . 5.394 0.731 26.0 0.998 0.902 0.761 0.370 D c 0.260 0.181 0.844 0.249 0.615 0.372 0 4.58 0.559 1.383 0.338 -0.407 0.061 0.856 0.303 0.019 0.132 11.843 0.515 . . . 0.4194 0.0999 0.3748 0.5140 0.1457 0.4397 0.5042 0.4339 0.4246 0.3559 0.1119 0.3684 0.5067 0.1233 0.4263 0.4982 0.4284 het 1017.74 79 7 25194753 . C T 1017.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.760;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8455;MQ=59.42;MQ0=0;MQRankSum=-0.466;QD=12.88;ReadPosRankSum=0.417;VQSLOD=6.6571;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,41:79:99:1048,0,889 7 25266400 25266400 G A exonic NPVF synonymous SNV NPVF:NM_022150:exon2:c.C384T:p.P128P 0.28 0.37 0.32 0.15 0.28 0.26 0.2702 0.3621 0.2838 0.1395 0.2392 0.2740 0.2930 0.2669 0.31 0.36 0.28 0.32 0.26 rs2717851 COSM4162110 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2670 0.3602 0.2753 0.2759 0.1397 0.2377 0.2753 0.2869 0.2680 0.2839 0.3555 0.2715 0.2616 0.1597 0.2277 0.2730 0.2383 het 4034.83 247 7 25266400 . G A 4034.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.705;DP=247;DS;Dels=0.00;FS=4.331;HRun=0;HaplotypeScore=6.3286;MQ=58.60;MQ0=0;MQRankSum=-0.611;QD=16.34;ReadPosRankSum=-1.244;VQSLOD=4.1152;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,132:247:99:3420,0,3140 7 25267963 25267963 G C exonic NPVF nonsynonymous SNV NPVF:NM_022150:exon1:c.C96G:p.I32M 0.97 1. 0.96 1. 0.92 0.99 0.9446 0.9875 0.9771 0.9999 0.8454 0.9271 0.9157 0.9782 0.94 0.99 0.92 0.94 0.8 rs886354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9432 0.9889 0.9773 0.9807 0.9998 0.8488 0.9241 0.9410 0.9781 0.9287 0.9880 0.9690 0.98 1 0.8386 0.9059 0.9033 hom 1943.50 69 7 25267963 . G C 1943.50 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5762;MQ=59.12;MQ0=0;QD=28.17;VQSLOD=7.9009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:1977,147,0 7 27169093 27169093 T G exonic HOXA4 synonymous SNV HOXA4:NM_002141:exon2:c.A714C:p.R238R 0.96 0.91 0.98 1. 0.97 0.95 0.9628 0.9034 0.9769 0.9979 0.9601 0.9708 0.9680 0.9400 0.95 0.91 0.97 0.97 0.97 rs2158218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9632 0.9000 0.9727 0.9786 0.9977 0.9583 0.9699 0.9619 0.9392 0.9521 0.9017 0.9749 0.9868 1 0.9665 0.9709 0.9532 hom 7011.72 213 7 27169093 . T G 7011.72 Mask AC=2;AF=1.00;AN=2;DP=213;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2312;MQ=59.21;MQ0=0;QD=32.92;VQSLOD=9.1797;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,213:213:99:7011,548,0 7 27196069 27196069 A C exonic HOXA7 synonymous SNV HOXA7:NM_006896:exon1:c.T96G:p.A32A 0.77 0.55 0.73 0.86 0.86 0.89 0.8324 0.6014 0.7186 0.8622 0.8177 0.8721 0.8352 0.8807 0.78 0.61 0.87 0.61 0.77 rs2301720 COSM4004444 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8316 0.5950 0.7276 0.9247 0.8648 0.8201 0.8701 0.8480 0.8798 0.7875 0.6082 0.7303 0.9238 0.8568 0.8303 0.8707 0.8462 hom 2506.34 77 7 27196069 . A C 2506.34 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.597;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4194;MQ=58.36;MQ0=0;MQRankSum=1.642;QD=32.55;ReadPosRankSum=1.417;VQSLOD=6.0764;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,76:77:99:2539,208,0 7 27196113 27196113 C T exonic HOXA7 nonsynonymous SNV HOXA7:NM_006896:exon1:c.G52A:p.A18T 0.62 0.1 0.65 0.86 0.83 0.83 0.7691 0.1902 0.6776 0.8609 0.8063 0.8426 0.7844 0.8274 0.62 0.21 0.84 0.51 0.7 rs2301721 COSM4004445 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 0.33 0.131 T 0.08 0.230 B 0.015 0.162 B 0.001 0.437 N 0.016 0.400 P 0.385 0.122 N 1.58 0.629 T 0.31 0.262 N 0.078 0.319 -1.013 0.259 T 0.000 0.000 T . . . 2.232 0.329 17.72 0.991 0.530 0.980 0.790 D c -0.259 -0.069 1.000 0.747 0.598 0.340 0 4.34 0.511 2.437 0.442 0.935 0.490 1.000 0.715 1.000 0.888 13.662 0.617 . ENSG00000233429.5|ENSG00000233429.5|ENSG00000233429.5|ENSG00000233429.5|ENSG00000233429.5|ENSG00000106004.4|ENSG00000106006.6|ENSG00000233429.5|ENSG00000122592.6|ENSG00000233429.5|ENSG00000233429.5|ENSG00000233429.5|ENSG00000233429.5|ENSG00000233429.5|ENSG00000197576.9|ENSG00000233429.5|ENSG00000233429.5|ENSG00000233429.5|ENSG00000233429.5|ENSG00000233429.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.7731 0.1710 0.6833 0.8701 0.8639 0.8063 0.8402 0.7927 0.8241 0.6520 0.1925 0.6902 0.8709 0.8543 0.8171 0.8441 0.7904 hom 2702.04 120 7 27196113 . C T 2702.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.694;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5494;MQ=58.83;MQ0=0;MQRankSum=0.414;QD=22.52;ReadPosRankSum=0.038;VQSLOD=4.4173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:19,100:120:99:2735,241,0 7 27204732 27204732 C A exonic HOXA9 synonymous SNV HOXA9:NM_152739:exon1:c.G345T:p.T115T 0.067 0.0015 0.053 0.2 0.065 0.03 0.0782 0.0174 0.0408 0.2051 0.1157 0.0829 0.0789 0.0400 0.051 0.017 0.069 0.033 0.041 rs35355140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0704 0.0125 0.0389 0.0543 0.1895 0.1005 0.0740 0.0643 0.0380 0.0712 0.0110 0.0274 0.0364 0.1792 0.1004 0.0891 0.0984 het 209.43 19 7 27204732 . C A 209.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.821;QD=11.02;ReadPosRankSum=0.844;VQSLOD=10.7121;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:239,0,245 7 28996220 28996220 G A exonic TRIL unknown UNKNOWN 0.49 0.58 0.53 0.26 0.62 0.45 0.6004 0.6155 0.4797 0.3150 0.5902 0.6643 0.6179 0.5622 0.65 0.61 0.67 0.29 . rs1006521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5626 0.5825 0.4665 0.6361 0.2617 0.5317 0.6522 0.5979 0.5164 0.5882 0.5931 0.4833 0.6033 0.2435 0.5418 0.6405 0.5678 hom 553.48 18 7 28996220 . G A 553.48 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.96;MQ0=0;QD=30.75;VQSLOD=8.6684;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:586,45,0 7 28996944 28996944 T C exonic TRIL unknown UNKNOWN 0.85 0.92 0.79 0.87 0.83 0.77 0.8473 0.9169 0.7994 0.8684 0.7889 0.8640 0.8291 0.7878 . . . 0.79 . rs740250 COSN15632171;COSN15634225;COSN15639302;COSN15638424;COSN15629608;COSN15645901;COSN15646739;COSN15633302;COSN15635043;COSN15635864;COSN15640977;COSN15641763;COSN15628778;COSN15630466;COSN15642566;COSN15643378;COSN15640117;COSN15627943;COSN15637598;COSN15636734;COSN15644238;COSN15631301;COSN15645035 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B . . . . . . -0.01 0.051 N . . . . . . 0.485 0.533 . . . . . . . . . 1.271 0.218 12.12 0.868 0.163 0.163 0.191 N n 2.068 3.812 1.000 0.747 0.111 0.023 0 4.59 0.561 0.095 0.149 0.069 0.176 0.884 0.308 1.000 0.888 9.082 0.355 Leucine-rich repeat domain\x2c L domain-like . . 0.8438 0.9150 0.8106 0.8777 0.8694 0.7864 0.8646 0.8439 0.7863 0.8638 0.9195 0.8014 0.8576 0.8888 0.7832 0.8536 0.8227 hom 1320.47 38 7 28996944 . T C 1320.47 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.16;MQ0=0;QD=34.75;VQSLOD=8.9320;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1353,108,0 7 28997596 28997596 - C exonic;splicing TRIL;TRIL NM_014817:exon1:c.66+1->G unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1.0000 1 1 1. 1. 1. 0.087 . rs869082108 COSN15647339;COSN20104059;COSN15647342;COSN15647325;COSN15647330;COSN15647326;COSN20104061;COSN15647337;COSN15647333;COSN15647343;COSN20104058;COSN15647336;COSN15647322;COSN15647340;COSN15647327;COSN15647323;COSN15647329;COSN15647335;COSN15647332;COSN15647324;COSN15647338;COSN15647341;COSN15647334;COSN15647331;COSN20104060;COSN15647328 22(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 0.9999 1 1 1.0000 0.9998 1 1 1 1 1 1 1 1 1 hom 902.57 21 7 28997596 . G GC 902.57 Mask AC=2;AF=1.00;AN=2;DP=21;FS=0.000;HRun=1;HaplotypeScore=41.2029;MQ=60.00;MQ0=0;QD=42.98;set=variant2 GT:AD:DP:GQ:PL 1/1:0,21:21:63.21:945,63,0 7 29152371 29152371 G A exonic CPVL synonymous SNV CPVL:NM_019029:exon3:c.C237T:p.T79T,CPVL:NM_031311:exon3:c.C237T:p.T79T,CPVL:NM_001348054:exon4:c.C237T:p.T79T,CPVL:NM_001348052:exon5:c.C237T:p.T79T 0.08 0.15 0.078 0.034 0.098 0.013 0.1010 0.1343 0.1496 0.0320 0.0811 0.1152 0.1060 0.0322 0.12 0.14 0.12 0.11 0.082 rs323182 COSM3762613 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1005 0.1330 0.1453 0.1044 0.0297 0.0790 0.1155 0.1102 0.0330 0.1100 0.1467 0.1571 0.1258 0.0285 0.0785 0.1029 0.0939 het 1188.76 93 7 29152371 . G A 1188.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.180;DP=93;Dels=0.00;FS=1.772;HRun=0;HaplotypeScore=3.0129;MQ=59.37;MQ0=0;MQRankSum=0.696;QD=12.78;ReadPosRankSum=-1.034;VQSLOD=6.4612;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,45:93:99:1219,0,1176 7 29152416 29152416 G A exonic CPVL synonymous SNV CPVL:NM_019029:exon3:c.C192T:p.G64G,CPVL:NM_031311:exon3:c.C192T:p.G64G,CPVL:NM_001348054:exon4:c.C192T:p.G64G,CPVL:NM_001348052:exon5:c.C192T:p.G64G 0.098 0.22 0.085 0.034 0.098 0.013 0.1065 0.1906 0.1518 0.0322 0.0807 0.1159 0.1159 0.0328 0.14 0.19 0.12 0.13 0.074 rs2011337 COSM3762614 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1049 0.1891 0.1485 0.1082 0.0299 0.0782 0.1160 0.1156 0.0335 0.1259 0.2020 0.1643 0.1325 0.0297 0.0782 0.1031 0.0930 het 665.21 61 7 29152416 . G A 665.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.571;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9982;MQ=59.60;MQ0=0;MQRankSum=0.207;QD=10.91;ReadPosRankSum=0.207;VQSLOD=6.6724;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,31:61:99:695,0,834 7 29160604 29160604 C T exonic CPVL nonsynonymous SNV CPVL:NM_019029:exon2:c.G74A:p.R25H,CPVL:NM_031311:exon2:c.G74A:p.R25H,CPVL:NM_001348054:exon3:c.G74A:p.R25H,CPVL:NM_001348052:exon4:c.G74A:p.R25H 0.073 0.022 0.11 0.033 0.17 0.053 0.1516 0.0417 0.1739 0.0319 0.1256 0.1992 0.1700 0.0850 0.15 0.054 0.2 0.065 0.25 rs34219043 COSM3762615 1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.334 0.129 T 0.002 0.090 B 0.001 0.040 B 0.033 0.018 N 1 0.090 P 0.395 0.123 N 2.5 0.418 T -0.73 0.387 N 0.22 0.270 -1.050 0.145 T 0.000 0.000 T . . . 1.537 0.247 13.51 0.764 0.111 0.317 0.242 N c -0.883 -0.814 0.002 0.095 0.706 0.609 0 0.593 0.166 0.081 0.146 -0.663 0.040 0.801 0.295 0.001 0.043 8.721 0.334 . ENSG00000106069.16 Thyroid 0.1523 0.0391 0.1692 0.2055 0.0300 0.1229 0.2001 0.1749 0.0858 0.1317 0.0416 0.1950 0.2285 0.0303 0.1242 0.1906 0.1424 het 1330.46 102 7 29160604 . C T 1330.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.764;DP=102;Dels=0.00;FS=10.252;HRun=0;HaplotypeScore=0.7340;MQ=59.18;MQ0=0;MQRankSum=-1.614;QD=13.04;ReadPosRankSum=-1.038;VQSLOD=3.7030;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,49:102:99:1360,0,1253 7 29605975 29605975 C G exonic PRR15 synonymous SNV PRR15:NM_001329996:exon2:c.C30G:p.S10S,PRR15:NM_001329997:exon2:c.C30G:p.S10S,PRR15:NM_175887:exon2:c.C30G:p.S10S 0.83 0.75 0.86 0.73 0.97 0.86 0.9028 0.7866 0.8097 0.7439 0.9402 0.9594 0.9046 0.8801 0.91 0.81 0.96 0.83 0.68 rs2302618 COSM3750021 2(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8989 0.7778 0.8160 0.9149 0.7407 0.9421 0.9631 0.9070 0.8782 0.8950 0.7860 0.8353 0.8907 0.7497 0.9381 0.9645 0.9367 hom 816.01 31 7 29605975 . C G 816.01 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7552;MQ=58.58;MQ0=0;QD=26.32;VQSLOD=6.4186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:69.18:849,69,0 7 30491311 30491311 C T exonic NOD1 synonymous SNV NOD1:NM_006092:exon6:c.G1722A:p.A574A 0.32 0.33 0.16 0.38 0.24 0.42 0.2753 0.3253 0.1398 0.3464 0.2379 0.2605 0.2832 0.3759 0.28 0.32 0.26 0.33 0.24 rs2075821 COSM3762623 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2672 0.3246 0.1434 0.2593 0.3495 0.2402 0.2610 0.2612 0.3728 0.2723 0.3213 0.1742 0.2649 0.3211 0.2428 0.2512 0.2704 het 938.49 85 7 30491311 . C T 938.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.070;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7987;MQ=59.56;MQ0=0;MQRankSum=0.814;QD=11.04;ReadPosRankSum=0.497;VQSLOD=6.6767;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,40:85:99:968,0,1081 7 30492237 30492237 C T exonic NOD1 nonsynonymous SNV NOD1:NM_006092:exon6:c.G796A:p.E266K 0.34 0.4 0.18 0.39 0.23 0.42 0.2777 0.3759 0.1387 0.3495 0.2749 0.2524 0.2916 0.3778 0.29 0.38 0.25 0.33 0.2 rs2075820 COSM3736441 1(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.044 0.410 D 0.897 0.474 P 0.266 0.380 B 0.189 0.169 N 0.994 0.588 P 1.78 0.463 L -1.23 0.789 T -1.9 0.443 N 0.095 0.095 -0.976 0.360 T 0.000 0.000 T . . . 4.319 0.578 24.0 0.999 0.933 0.624 0.315 D c 0.213 0.263 0.994 0.333 0.707 0.730 0 5.54 0.828 2.153 0.417 0.852 0.362 0.702 0.284 0.982 0.498 11.800 0.512 NACHT nucleoside triphosphatase ENSG00000106100.6|ENSG00000272638.1|ENSG00000272638.1|ENSG00000106100.6|ENSG00000272638.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Lung|Nerve_Tibial|Nerve_Tibial 0.2692 0.3787 0.1438 0.2492 0.3510 0.2786 0.2506 0.2575 0.3750 0.2849 0.3703 0.1766 0.2550 0.3216 0.2790 0.2396 0.2828 het 1957.84 136 7 30492237 . C T 1957.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.254;DP=136;Dels=0.00;FS=5.459;HRun=1;HaplotypeScore=2.6580;MQ=59.42;MQ0=0;MQRankSum=1.865;QD=14.40;ReadPosRankSum=1.438;VQSLOD=4.9073;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,71:136:99:1988,0,1720 7 30492550 30492550 G A exonic NOD1 synonymous SNV NOD1:NM_006092:exon6:c.C483T:p.D161D 0.34 0.4 0.18 0.39 0.23 0.42 0.2784 0.3750 0.1391 0.3482 0.2756 0.2530 0.2896 0.3819 0.29 0.38 0.25 0.34 0.2 rs2235099 COSM3762624 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2704 0.3790 0.1446 0.2491 0.3510 0.2791 0.2519 0.2569 0.3786 0.2853 0.3710 0.1766 0.2483 0.3213 0.2792 0.2398 0.2838 het 1801.58 152 7 30492550 . G A 1801.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.454;DP=152;Dels=0.00;FS=2.036;HRun=0;HaplotypeScore=3.8787;MQ=59.48;MQ0=0;MQRankSum=0.326;QD=11.85;ReadPosRankSum=-0.934;VQSLOD=6.0778;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,74:152:99:1832,0,1963 7 30496382 30496382 G C exonic NOD1 synonymous SNV NOD1:NM_006092:exon4:c.C156G:p.A52A 0.37 0.52 0.19 0.39 0.23 0.42 0.2889 0.4820 0.1452 0.3470 0.2770 0.2545 0.3007 0.3810 0.33 0.47 0.25 0.35 0.24 rs2075818 COSM3762625 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2790 0.4883 0.1509 0.2494 0.3499 0.2812 0.2532 0.2660 0.3787 0.3175 0.4793 0.1806 0.2550 0.3255 0.2813 0.2419 0.2873 het 1250.40 116 7 30496382 . G C 1250.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.281;DP=116;Dels=0.00;FS=3.585;HRun=1;HaplotypeScore=2.7554;MQ=59.28;MQ0=0;MQRankSum=-1.230;QD=10.78;ReadPosRankSum=-0.707;VQSLOD=4.8366;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,51:116:99:1280,0,1575 7 30795331 30795331 A G exonic INMT nonsynonymous SNV INMT:NM_001199219:exon3:c.A653G:p.E218G,INMT:NM_006774:exon3:c.A656G:p.E219G 0.33 0.059 0.51 0.55 0.43 0.24 0.4040 0.1084 0.5961 0.5507 0.4536 0.4279 0.4185 0.2619 0.32 0.13 0.42 0.29 0.39 rs2302340 COSM150255 1(stomach);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.064 0.390 T 0.969 0.548 D 0.847 0.587 P 0.002 0.373 N 0.015 0.402 P 2.455 0.715 M 2.77 0.114 T -4.71 0.799 D 0.147 0.358 -0.926 0.447 T 0.000 0.000 T . . . 6.027 0.829 27.9 0.999 0.948 0.739 0.359 D c 0.408 0.321 1.000 0.747 0.659 0.489 0 3.67 0.411 2.487 0.447 0.977 0.596 0.994 0.380 0.689 0.307 10.601 0.444 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000254959.2|ENSG00000254959.2|ENSG00000254959.2|ENSG00000106113.14|ENSG00000254959.2|ENSG00000254959.2|ENSG00000196295.7|ENSG00000254959.2 Artery_Aorta|Artery_Tibial|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Thyroid|Thyroid 0.4166 0.1035 0.5815 0.38 0.5466 0.4458 0.4274 0.4349 0.2675 0.3411 0.1080 0.5287 0.3344 0.5360 0.4344 0.4189 0.4173 hom 8625.76 250 7 30795331 . A G 8625.76 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4437;MQ=59.72;MQ0=0;QD=34.50;VQSLOD=6.1609;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8625,671,0 7 30795436 30795436 T G exonic INMT nonsynonymous SNV INMT:NM_001199219:exon3:c.T758G:p.F253C,INMT:NM_006774:exon3:c.T761G:p.F254C 0.77 0.55 0.9 0.84 0.9 0.79 0.8544 0.5869 0.9358 0.8396 0.9138 0.8877 0.8634 0.8144 0.79 0.59 0.88 0.71 0.88 rs4720015 COSM3762632 1(large_intestine) . . . . . . . . . . . 0.061 0.398 T 1.0 0.899 D 0.995 0.818 D 0.002 0.381 N 0.999 0.218 P 2.93 0.848 M 3.75 0.040 T -5.0 0.823 D 0.207 0.427 -1.058 0.121 T 0.000 0.000 T . . . 4.815 0.646 24.8 0.988 0.458 0.148 0.184 N c -0.009 -0.248 1.000 0.500 0.554 0.283 0 2.22 0.270 1.203 0.317 0.868 0.378 0.006 0.172 0.485 0.268 5.966 0.184 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000241644.2|ENSG00000241644.2|ENSG00000241644.2 Artery_Aorta|Artery_Tibial|Thyroid 0.8613 0.5848 0.9328 0.7796 0.8377 0.9142 0.8908 0.8726 0.8134 0.8093 0.5987 0.9093 0.7616 0.8288 0.9159 0.8959 0.8753 hom 7076.25 207 7 30795436 . T G 7076.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.715;DP=207;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3913;MQ=58.94;MQ0=0;MQRankSum=1.515;QD=34.18;ReadPosRankSum=-0.561;VQSLOD=8.5665;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,206:207:99:7076,545,0 7 31013743 31013743 C T exonic GHRHR synonymous SNV GHRHR:NM_000823:exon7:c.C741T:p.L247L 0.0036 0.0098 0.0058 . . 0.001 0.0020 0.0126 0.0013 0.0001 0 0.0009 0.0022 0.0018 0.0051 0.013 0.0012 . . rs151019928 . . Benign|Uncertain significance not_specified|Isolated_Growth_Hormone_Deficiency RCV000316884.1|RCV000336191.1 MedGen|MedGen CN169374|C0271563 . . . . . . . . . . . . . . . . . . 0.924 0.368 D . . . . . . . . . . . . . . . . . . . . 1.324 0.223 12.39 0.515 0.045 0.025 0.069 N n -0.217 -0.207 1.000 0.473 0.447 0.083 0 -8.62 0.008 -4.699 0.002 -1.847 0.006 0.000 0.063 0.478 0.267 10.529 0.440 . . . 0.0018 0.0128 0.0010 0 0.0001 0.0002 0.0012 0.0015 0.0019 0.0039 0.0116 0.0012 0 0 0.0003 0.0012 0.0010 het 1908.10 138 7 31013743 . C T 1908.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.675;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3880;MQ=59.73;MQ0=0;MQRankSum=-0.411;QD=13.83;ReadPosRankSum=0.601;VQSLOD=3.9766;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,72:138:99:1938,0,1579 7 31592733 31592733 C A exonic CCDC129 nonsynonymous SNV CCDC129:NM_194300:exon1:c.C95A:p.A32D,CCDC129:NM_001257968:exon2:c.C173A:p.A58D,CCDC129:NM_001257967:exon3:c.C125A:p.A42D 0.5 0.39 0.53 0.45 0.67 0.51 0.6281 0.4535 0.5207 0.5143 0.6883 0.6932 0.6797 0.5577 0.6 0.43 0.68 0.47 . rs7811042 COSM4004454;COSM4004455 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.233 0.329 T 0.958 0.530 D 0.483 0.453 P 0.469 0.049 N 1 0.090 P 1.65 0.424 L 0.81 0.485 T -1.61 0.387 N 0.217 0.287 -0.934 0.436 T 0.000 0.000 T . . . 3.530 0.482 23.1 0.982 0.389 0.046 0.102 N c -0.563 -0.739 0.000 0.029 0.554 0.283 0 0.365 0.153 0.084 0.146 0.065 0.171 0.000 0.063 0.009 0.108 7.193 0.249 . . . 0.5932 0.4125 0.4640 0.6779 0.4533 0.6722 0.6704 0.6285 0.5340 0.5839 0.4203 0.4821 0.6556 0.4446 0.6589 0.6797 0.5971 het 375.12 30 7 31592733 . C A 375.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.161;DP=30;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.249;QD=12.50;ReadPosRankSum=-0.622;VQSLOD=6.5276;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,15:30:99:405,0,357 7 31594508 31594508 C T exonic CCDC129 synonymous SNV CCDC129:NM_194300:exon3:c.C249T:p.D83D,CCDC129:NM_001257968:exon4:c.C327T:p.D109D,CCDC129:NM_001257967:exon5:c.C279T:p.D93D 0.23 0.16 0.17 0.33 0.24 0.25 0.3213 0.2359 0.3242 0.4366 0.3427 0.3443 0.2688 0.2558 0.22 0.18 0.24 0.23 . rs2286711 COSM5830689;COSM3762635;COSM3762634 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2259 0.1696 0.1633 0.2370 0.3138 0.2511 0.2358 0.2207 0.2196 0.2330 0.1777 0.1778 0.2616 0.3271 0.2652 0.2473 0.2777 het 244.95 27 7 31594508 . C T 244.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.112;DP=27;Dels=0.00;FS=3.834;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=-0.180;QD=9.07;ReadPosRankSum=-0.077;VQSLOD=4.7683;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:275,0,316 7 31611758 31611758 G T exonic CCDC129 synonymous SNV CCDC129:NM_194300:exon5:c.G351T:p.G117G,CCDC129:NM_001257968:exon6:c.G429T:p.G143G,CCDC129:NM_001257967:exon7:c.G381T:p.G127G 0.44 0.54 0.51 0.34 0.4 0.41 0.4395 0.5231 0.5774 0.3371 0.3883 0.4202 0.4236 0.4433 0.45 0.52 0.42 0.51 . rs67930674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4331 0.5172 0.5591 0.3267 0.3222 0.3904 0.4211 0.4120 0.4289 0.4381 0.5197 0.5537 0.3179 0.3099 0.3825 0.4166 0.3908 het 687.15 64 7 31611758 . G T 687.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.011;DP=64;Dels=0.00;FS=2.104;HRun=0;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;MQRankSum=1.330;QD=10.74;ReadPosRankSum=0.699;VQSLOD=6.0989;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,31:64:99:717,0,873 7 31617733 31617733 T C exonic CCDC129 synonymous SNV CCDC129:NM_194300:exon7:c.T855C:p.V285V,CCDC129:NM_001257968:exon8:c.T933C:p.V311V,CCDC129:NM_001257967:exon9:c.T885C:p.V295V 0.95 0.88 0.98 0.99 0.98 0.96 0.9746 0.8966 0.9874 0.9973 0.9756 0.9807 0.9768 0.9763 0.96 0.9 0.98 0.94 . rs6945679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9768 0.8948 0.9857 0.9805 0.9981 0.9748 0.9819 0.9779 0.9778 0.9583 0.9006 0.9833 0.9834 0.9994 0.9774 0.9803 0.9693 hom 1804.80 52 7 31617733 . T C 1804.80 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.71;VQSLOD=13.2655;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1838,144,0 7 31618008 31618008 A G exonic CCDC129 nonsynonymous SNV CCDC129:NM_194300:exon7:c.A1130G:p.H377R,CCDC129:NM_001257968:exon8:c.A1208G:p.H403R,CCDC129:NM_001257967:exon9:c.A1160G:p.H387R 0.95 0.88 0.98 0.99 0.98 0.96 0.9748 0.8963 0.9874 0.9973 0.9755 0.9808 0.9776 0.9766 0.96 0.9 0.98 0.94 . rs10252720 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0 0.065 N 2.53 0.174 T 0.56 0.027 N 0.004 0.000 -0.986 0.336 T 0.000 0.000 T . . . -2.322 0.005 0.001 0.138 0.003 0.003 0.016 N c -1.664 -1.634 0.000 0.054 0.487 0.133 0 -4.14 0.036 -0.448 0.068 -1.211 0.016 0.000 0.063 0.005 0.090 14.262 0.655 . . . 0.9769 0.8950 0.9856 0.9805 0.9981 0.9748 0.9820 0.9781 0.9778 0.9579 0.8993 0.9833 0.9834 0.9994 0.9774 0.9803 0.9694 hom 2136.99 67 7 31618008 . A G 2136.99 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.89;MQ0=0;QD=31.90;VQSLOD=8.3095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2170,181,0 7 31682453 31682453 C T exonic CCDC129 nonsynonymous SNV CCDC129:NM_194300:exon10:c.C1469T:p.A490V,CCDC129:NM_001257968:exon11:c.C1547T:p.A516V,CCDC129:NM_001257967:exon12:c.C1499T:p.A500V 0.73 0.57 0.78 0.81 0.75 0.81 0.7685 0.5894 0.8349 0.8368 0.6869 0.7764 0.7406 0.8018 0.71 0.59 0.78 0.73 . rs4141001 COSM3762637;COSM3762636;COSM5021540 1(bone);1(large_intestine) . . . . . . . . . . . 0.199 0.204 T 0.848 0.449 P 0.129 0.312 B 0.381 0.134 N 1 0.090 P 0.69 0.170 N 2.26 0.176 T -0.84 0.229 N 0.079 0.071 -0.980 0.350 T 0.000 0.000 T . . . 1.229 0.213 11.90 0.436 0.033 0.214 0.212 N c -0.759 -0.690 0.215 0.183 0.487 0.133 0 2.49 0.291 1.379 0.337 0.067 0.174 0.923 0.318 0.006 0.095 6.355 0.205 . . . 0.7731 0.5815 0.8316 0.8213 0.8312 0.6892 0.7769 0.7752 0.8030 0.7170 0.5803 0.8234 0.8046 0.8228 0.7035 0.7788 0.7413 het 2962.13 248 7 31682453 . C T 2962.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.449;DP=248;DS;Dels=0.00;FS=1.553;HRun=0;HaplotypeScore=5.4337;MQ=58.96;MQ0=0;MQRankSum=0.930;QD=11.90;ReadPosRankSum=0.355;VQSLOD=5.5093;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,115:248:99:2992,0,3238 7 31682601 31682601 T C exonic CCDC129 synonymous SNV CCDC129:NM_194300:exon10:c.T1617C:p.H539H,CCDC129:NM_001257968:exon11:c.T1695C:p.H565H,CCDC129:NM_001257967:exon12:c.T1647C:p.H549H 0.14 0.018 0.16 0.18 0.22 0.15 0.1751 0.0427 0.1313 0.1607 0.2862 0.1979 0.2064 0.1583 0.15 0.05 0.2 0.054 . rs38396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1779 0.0416 0.1347 0.1382 0.1661 0.2836 0.1995 0.1807 0.1567 0.1599 0.0455 0.1328 0.1556 0.1770 0.2710 0.1978 0.1984 het 4283.26 248 7 31682601 . T C 4283.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.697;DP=248;Dels=0.00;FS=1.627;HRun=1;HaplotypeScore=5.0014;MQ=59.18;MQ0=0;MQRankSum=0.596;QD=17.27;ReadPosRankSum=-1.148;VQSLOD=4.2200;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,127:248:99:3629,0,3170 7 31682853 31682853 T C exonic CCDC129 synonymous SNV CCDC129:NM_194300:exon10:c.T1869C:p.S623S,CCDC129:NM_001257968:exon11:c.T1947C:p.S649S,CCDC129:NM_001257967:exon12:c.T1899C:p.S633S 0.14 0.018 0.16 0.18 0.22 0.15 0.1751 0.0427 0.1317 0.1605 0.2864 0.1980 0.2064 0.1579 0.15 0.05 0.2 0.054 . rs38397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1778 0.0416 0.1347 0.1383 0.1662 0.2840 0.1995 0.1810 0.1563 0.1598 0.0457 0.1325 0.1556 0.1776 0.2709 0.1975 0.1988 het 2169.51 191 7 31682853 . T C 2169.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.683;DP=191;DS;Dels=0.01;FS=3.456;HRun=0;HaplotypeScore=8.6670;MQ=59.71;MQ0=0;MQRankSum=0.920;QD=11.30;ReadPosRankSum=-1.655;VQSLOD=3.6850;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,90:191:99:2200,0,2710 7 31683410 31683410 G A exonic CCDC129 nonsynonymous SNV CCDC129:NM_194300:exon10:c.G2426A:p.C809Y,CCDC129:NM_001257968:exon11:c.G2504A:p.C835Y,CCDC129:NM_001257967:exon12:c.G2456A:p.C819Y 0.76 0.69 0.79 0.81 0.75 0.81 0.7796 0.7059 0.8414 0.8378 0.6869 0.7768 0.7494 0.8024 0.75 0.71 0.78 0.78 . rs10247620 COSM3762639;COSM5830692;COSM3762638 1(large_intestine) . . . . . . . . . . . 0.147 0.251 T 0.063 0.533 B 0.067 0.491 B 0.046 0.234 N 1 0.090 P 1.445 0.365 L 1.46 0.322 T -2.96 0.617 D 0.135 0.228 -0.929 0.443 T 0.000 0.000 T . . . 2.420 0.352 18.95 0.637 0.071 0.669 0.330 D c -0.419 -0.409 0.042 0.145 0.554 0.283 0 4.07 0.466 1.893 0.392 1.048 0.713 0.954 0.330 0.776 0.329 9.191 0.362 . . . 0.7820 0.7051 0.8373 0.8213 0.8318 0.6893 0.7775 0.7806 0.8033 0.7561 0.7157 0.8353 0.8067 0.8239 0.7038 0.7791 0.7546 het 1544.12 129 7 31683410 . G A 1544.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.641;DP=129;Dels=0.00;FS=8.089;HRun=0;HaplotypeScore=1.8600;MQ=58.99;MQ0=0;MQRankSum=0.251;QD=11.97;ReadPosRankSum=0.500;VQSLOD=5.1151;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,58:129:99:1574,0,2041 7 31848706 31848706 A G exonic PDE1C synonymous SNV PDE1C:NM_001191056:exon16:c.T1830C:p.G610G,PDE1C:NM_001191057:exon16:c.T1830C:p.G610G,PDE1C:NM_001191058:exon17:c.T2010C:p.G670G,PDE1C:NM_001191059:exon17:c.T1830C:p.G610G,PDE1C:NM_001322055:exon17:c.T1830C:p.G610G,PDE1C:NM_001322056:exon17:c.T1830C:p.G610G,PDE1C:NM_001322057:exon17:c.T1830C:p.G610G,PDE1C:NM_001322058:exon17:c.T2010C:p.G670G,PDE1C:NM_001322059:exon17:c.T2235C:p.G745G,PDE1C:NM_005020:exon17:c.T1830C:p.G610G 0.19 0.22 0.15 0.12 0.22 0.21 0.2020 0.2175 0.1407 0.1375 0.1402 0.2140 0.2114 0.2441 0.21 0.21 0.2 0.23 0.16 rs3213709 COSM150260;COSM150261;COSM3762640 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1933 0.2122 0.1414 0.3050 0.1360 0.1392 0.2027 0.2073 0.2392 0.1893 0.2123 0.1439 0.3013 0.1416 0.1460 0.1901 0.2064 het 707.23 67 7 31848706 . A G 707.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.413;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9860;MQ=58.61;MQ0=0;MQRankSum=0.220;QD=10.56;ReadPosRankSum=0.333;VQSLOD=6.0150;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,31:67:99:737,0,822 7 31855578 31855578 G A exonic PDE1C synonymous SNV PDE1C:NM_001191056:exon15:c.C1773T:p.N591N,PDE1C:NM_001191057:exon15:c.C1773T:p.N591N,PDE1C:NM_001191058:exon16:c.C1953T:p.N651N,PDE1C:NM_001191059:exon16:c.C1773T:p.N591N,PDE1C:NM_001322055:exon16:c.C1773T:p.N591N,PDE1C:NM_001322056:exon16:c.C1773T:p.N591N,PDE1C:NM_001322057:exon16:c.C1773T:p.N591N,PDE1C:NM_001322058:exon16:c.C1953T:p.N651N,PDE1C:NM_001322059:exon16:c.C2178T:p.N726N,PDE1C:NM_005020:exon16:c.C1773T:p.N591N 0.95 0.93 0.98 0.92 0.98 0.95 0.9696 0.9427 0.9872 0.9311 0.9938 0.9764 0.9692 0.9570 0.97 0.95 0.98 0.97 0.98 rs1860790 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9720 0.9429 0.9871 0.9655 0.9293 0.9928 0.9781 0.9723 0.9586 0.9711 0.9482 0.9845 0.9669 0.9335 0.9940 0.9819 0.9766 hom 7534.17 250 7 31855578 . G A 7534.17 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.52;MQ0=0;QD=30.14;VQSLOD=9.0801;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7533,581,0 7 32209425 32209425 A G exonic PDE1C nonsynonymous SNV PDE1C:NM_001191058:exon3:c.T280C:p.S94P,PDE1C:NM_001322058:exon3:c.T280C:p.S94P,PDE1C:NM_001322059:exon3:c.T505C:p.S169P 1. 1. 1. 1. 1. 1. 0.9999 0.9982 1 1 1 1 1 0.9999 . . . 0.99 . rs977625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9984 1.0000 0.9999 1 1 1.0000 0.9998 1 0.9995 0.9984 1 1 1 1 1 1 hom 3808.80 112 7 32209425 . A G 3808.80 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=34.01;VQSLOD=9.1288;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3808,298,0 7 32209459 32209459 C T exonic PDE1C synonymous SNV PDE1C:NM_001191058:exon3:c.G246A:p.E82E,PDE1C:NM_001322058:exon3:c.G246A:p.E82E,PDE1C:NM_001322059:exon3:c.G471A:p.E157E 0.55 0.55 0.31 0.76 0.38 0.69 0.4716 0.5288 0.3591 0.7695 0.4628 0.3980 0.4618 0.6545 0.42 0.52 0.38 0.53 . rs977626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4620 0.5340 0.3554 0.3905 0.7629 0.4521 0.3928 0.4234 0.6519 0.4560 0.5346 0.3885 0.3543 0.7522 0.4548 0.3863 0.4284 het 2579.15 175 7 32209459 . C T 2579.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.211;DP=175;Dels=0.00;FS=1.386;HRun=1;HaplotypeScore=3.5117;MQ=59.07;MQ0=0;MQRankSum=0.605;QD=14.74;ReadPosRankSum=0.088;VQSLOD=6.3680;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,93:175:99:2609,0,2166 7 32338337 32338337 G A exonic PDE1C nonsynonymous SNV PDE1C:NM_001191058:exon1:c.C11T:p.A4V,PDE1C:NM_001322058:exon1:c.C11T:p.A4V 0.78 0.72 0.85 0.79 0.8 0.8 0.8061 0.7357 0.8521 0.7948 0.8506 0.8018 0.8308 0.8105 0.75 0.71 0.77 0.63 . rs215607 COSM4162175 1(thyroid) . . . . . . . . . . . 0.038 0.427 D 0.012 0.151 B 0.008 0.127 B 0.899 0.073 N 0.984 0.248 P . . . -0.98 0.758 T -0.13 0.090 N 0.043 0.028 -0.878 0.499 T 0.000 0.000 T . . . 4.425 0.592 24.2 0.998 0.901 0.831 0.420 D c -0.226 -0.060 1.000 0.747 0.623 0.393 0 4.05 0.462 6.223 0.720 0.827 0.338 1.000 0.715 0.807 0.338 15.136 0.721 . . . 0.7932 0.7172 0.8346 0.7808 0.7844 0.8465 0.7784 0.8196 0.7941 0.7785 0.7262 0.8194 0.8033 0.7877 0.8420 0.7877 0.8170 hom 550.69 22 7 32338337 . G A 550.69 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=57.20;MQ0=0;QD=25.03;VQSLOD=5.6397;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:22:48.12:584,48,0 7 32529936 32529936 G C exonic LSM5 synonymous SNV LSM5:NM_012322:exon1:c.C42G:p.P14P 0.75 0.68 0.8 0.87 0.81 0.64 0.7859 0.6671 0.8617 0.8168 0.8714 0.8068 0.7775 0.6733 0.76 0.66 0.81 0.74 0.79 rs1584614 COSM150264 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7933 0.6620 0.8630 0.7242 0.8184 0.8645 0.8100 0.7858 0.6798 0.7780 0.6629 0.8353 0.7285 0.8038 0.8643 0.8186 0.7943 hom 4739.44 163 7 32529936 . G C 4739.44 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.87;MQ0=0;QD=29.08;VQSLOD=8.4392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:4738,376,0 7 32613020 32613020 A G exonic AVL9 synonymous SNV AVL9:NM_015060:exon12:c.A1560G:p.T520T 0.57 0.39 0.71 0.67 0.66 0.51 0.6422 0.4301 0.7933 0.6524 0.7178 0.6586 0.6641 0.5669 0.58 0.43 0.66 0.53 0.72 rs1993050 COSM150265 1(stomach);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6546 0.4221 0.7884 0.6597 0.6502 0.7133 0.6560 0.6660 0.5756 0.6011 0.4242 0.7572 0.6324 0.6452 0.7208 0.6580 0.6602 het 1219.52 94 7 32613020 . A G 1219.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.478;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.31;MQ0=0;MQRankSum=-1.110;QD=12.97;ReadPosRankSum=0.096;VQSLOD=6.7431;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,48:94:99:1250,0,1163 7 32909182 32909182 G A exonic KBTBD2 synonymous SNV KBTBD2:NM_015483:exon4:c.C1647T:p.Y549Y 0.19 0.076 0.42 0.22 0.2 0.15 0.2335 0.0944 0.5692 0.2205 0.2297 0.2177 0.2434 0.1578 0.17 0.091 0.22 0.13 0.24 rs752730 COSM4416586 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2491 0.0918 0.5517 0.1705 0.2212 0.2276 0.2193 0.2570 0.1603 0.1904 0.0963 0.4905 0.1689 0.2146 0.2271 0.2166 0.2055 het 2083.34 178 7 32909182 . G A 2083.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.118;DP=178;Dels=0.00;FS=3.539;HRun=0;HaplotypeScore=10.2903;MQ=59.19;MQ0=0;MQRankSum=-0.579;QD=11.70;ReadPosRankSum=0.083;VQSLOD=4.0611;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,82:178:99:2113,0,2412 7 33060946 33060946 A G exonic NT5C3A synonymous SNV NT5C3A:NM_001002010:exon5:c.T393C:p.Y131Y,NT5C3A:NM_001002009:exon6:c.T276C:p.Y92Y,NT5C3A:NM_016489:exon6:c.T276C:p.Y92Y,NT5C3A:NM_001166118:exon7:c.T240C:p.Y80Y 0.67 0.81 0.72 0.46 0.71 0.6 0.6807 0.7697 0.7776 0.4865 0.7636 0.6853 0.65 0.6081 0.72 0.77 0.69 0.69 0.66 rs3750117 COSM4004460;COSM4004459 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6842 0.7699 0.7738 0.5703 0.4771 0.7539 0.6947 0.6857 0.6073 0.7210 0.7702 0.7572 0.5596 0.5075 0.7593 0.7095 0.6916 hom 4071.53 135 7 33060946 . A G 4071.53 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=30.16;VQSLOD=9.1974;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4071,310,0 7 34009946 34009946 C T exonic BMPER synonymous SNV BMPER:NM_133468:exon6:c.C408T:p.G136G 0.43 0.36 0.41 0.39 0.47 0.53 0.4491 0.3814 0.3910 0.4657 0.3589 0.4586 0.4295 0.5225 0.44 0.39 0.47 0.43 0.47 rs10265207 COSM3762645 1(large_intestine) Benign Diaphanospondylodysostosis RCV000362137.1 MedGen:OMIM:Orphanet C1842691:608022:ORPHA66637 . . . . . . 0.0 0.912 D . . . . . . . . . 0.000 0.588 P . . . . . . -0.74 0.208 N . . -0.927 0.446 T 0.000 0.000 T . . . 2.469 0.358 19.27 0.922 0.210 0.101 0.155 N c -0.273 -0.335 0.999 0.377 0.554 0.283 0 -1.49 0.082 -0.752 0.049 -0.166 0.106 0.282 0.249 0.990 0.544 5.300 0.150 . . . 0.4455 0.3845 0.3920 0.4191 0.4584 0.3632 0.4661 0.4358 0.5221 0.4242 0.3863 0.4189 0.4305 0.4527 0.3569 0.4580 0.4397 het 1041.64 116 7 34009946 . C T 1041.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.357;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6673;MQ=58.88;MQ0=0;MQRankSum=-0.808;QD=8.98;ReadPosRankSum=-0.495;VQSLOD=5.6407;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,50:116:99:1072,0,1716 7 34192762 34192762 G C exonic BMPER synonymous SNV BMPER:NM_133468:exon16:c.G1935C:p.T645T 0.91 0.78 0.93 1. 0.94 0.95 0.9353 0.8250 0.9556 0.9997 0.9713 0.9368 0.9163 0.9373 0.9 0.84 0.94 0.86 0.94 rs6968741 COSM4162182 1(thyroid) Benign Diaphanospondylodysostosis RCV000351472.1 MedGen:OMIM:Orphanet C1842691:608022:ORPHA66637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9390 0.8246 0.9561 0.8895 0.9998 0.9729 0.9390 0.9333 0.9353 0.9195 0.8269 0.9475 0.8733 1 0.9708 0.9499 0.9501 hom 7544.73 224 7 34192762 . G C 7544.73 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.28;MQ0=0;QD=33.68;VQSLOD=9.7929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:7544,593,0 7 34818113 34818113 A T exonic NPSR1 nonsynonymous SNV NPSR1:NM_001300933:exon3:c.A287T:p.N96I,NPSR1:NM_001300935:exon3:c.A320T:p.N107I,NPSR1:NM_207172:exon3:c.A320T:p.N107I,NPSR1:NM_207173:exon3:c.A320T:p.N107I 0.47 0.56 0.41 0.53 0.46 0.33 0.4465 0.5457 0.3422 0.5304 0.4887 0.4625 0.4637 0.3302 0.49 0.55 0.46 0.41 0.39 rs324981 . . other Asthma-related_traits\x2c_susceptibility_to\x2c_2 RCV000002276.3 MedGen:OMIM C1837811:608584 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.384 P -2.495 0.001 N 1.56 0.711 T 5.68 0.000 N 0.282 0.348 -0.940 0.427 T 0.000 0.000 T . . . -0.391 0.062 0.407 0.767 0.112 0.013 0.045 N c -1.122 -0.910 0.001 0.077 0.487 0.133 0 5.14 0.699 3.315 0.514 0.152 0.238 0.964 0.336 0.392 0.253 8.601 0.327 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4368 0.5433 0.3391 0.4313 0.5283 0.4749 0.4593 0.4374 0.3303 0.4867 0.5441 0.3652 0.3940 0.5195 0.4788 0.4623 0.4552 het 931.62 88 7 34818113 . A T 931.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.716;DP=88;Dels=0.00;FS=0.819;HRun=2;HaplotypeScore=2.8387;MQ=59.31;MQ0=0;MQRankSum=0.976;QD=10.59;ReadPosRankSum=1.270;VQSLOD=6.3832;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,40:88:99:962,0,1053 7 34851393 34851393 C G exonic NPSR1 synonymous SNV NPSR1:NM_001300933:exon4:c.C363G:p.L121L,NPSR1:NM_001300935:exon4:c.C396G:p.L132L,NPSR1:NM_207172:exon4:c.C396G:p.L132L,NPSR1:NM_207173:exon4:c.C396G:p.L132L 0.15 0.011 0.16 0.32 0.21 0.096 0.1789 0.0365 0.1985 0.3180 0.2399 0.1919 0.1652 0.1060 0.14 0.046 0.18 0.12 0.11 rs9655357 COSM4004463;COSM4004464;COSM4004462 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1790 0.0348 0.1865 0.1307 0.3161 0.2316 0.1888 0.1846 0.1069 0.1581 0.0392 0.1718 0.1258 0.3004 0.2288 0.1935 0.1874 het 2862.33 249 7 34851393 . C G 2862.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.214;DP=249;DS;Dels=0.00;FS=3.133;HRun=0;HaplotypeScore=6.1189;MQ=59.02;MQ0=0;MQRankSum=0.645;QD=11.50;ReadPosRankSum=1.407;VQSLOD=4.5591;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:141,107:249:99:2892,0,3957 7 35293193 35293193 A G exonic TBX20 synonymous SNV TBX20:NM_001077653:exon1:c.T39C:p.S13S,TBX20:NM_001166220:exon1:c.T39C:p.S13S 0.69 0.88 0.68 0.59 0.68 0.57 0.6767 0.8577 0.7115 0.5654 0.6532 0.6791 0.6775 0.5961 0.75 0.86 0.69 0.72 0.73 rs336283 COSM5426855;COSM5426856 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6785 0.8562 0.7221 0.7119 0.5644 0.6544 0.6824 0.6877 0.5974 0.7209 0.8596 0.7196 0.7583 0.5611 0.6598 0.6756 0.65 het 1070.01 76 7 35293193 . A G 1070.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.504;DP=76;Dels=0.00;FS=1.977;HRun=1;HaplotypeScore=0.9832;MQ=59.39;MQ0=0;MQRankSum=-0.595;QD=14.08;ReadPosRankSum=-0.606;VQSLOD=6.3188;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,43:76:99:1100,0,766 7 35709842 35709842 C T exonic HERPUD2 nonsynonymous SNV HERPUD2:NM_022373:exon4:c.G322A:p.A108T 0.27 0.12 0.32 0.26 0.37 0.33 0.3355 0.1692 0.2962 0.2559 0.3309 0.3767 0.3568 0.3438 0.31 0.18 0.39 0.18 0.43 rs3779234 COSM3762649 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.303 0.143 T 0.01 0.144 B 0.007 0.121 B 0.140 0.183 N 0.281 0.336 P 0.09 0.084 N 2.81 0.247 T -0.07 0.174 N 0.022 0.121 -0.907 0.472 T 0.000 0.000 T . . . 2.241 0.330 17.78 0.984 0.411 0.354 0.251 N c -0.515 -0.330 0.464 0.206 0.732 0.924 0 2.24 0.271 0.963 0.287 0.892 0.403 0.995 0.385 0.824 0.344 8.905 0.345 . ENSG00000271122.1|ENSG00000122557.5|ENSG00000271122.1|ENSG00000271122.1|ENSG00000122557.5|ENSG00000122557.5|ENSG00000271122.1|ENSG00000122557.5|ENSG00000271122.1|ENSG00000122557.5|ENSG00000271122.1|ENSG00000271122.1|ENSG00000122557.5 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.3409 0.1641 0.2944 0.4071 0.2615 0.3332 0.3810 0.3685 0.3472 0.3054 0.1749 0.3029 0.4106 0.2608 0.3437 0.3722 0.3410 hom 1690.42 61 7 35709842 . C T 1690.42 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=27.71;VQSLOD=8.5125;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1723,135,0 7 36320821 36320821 G A exonic EEPD1 nonsynonymous SNV EEPD1:NM_030636:exon4:c.G1028A:p.S343N 0.94 0.86 0.96 0.97 0.98 0.97 0.9617 0.8683 0.9282 0.9533 0.9820 0.9800 0.9555 0.9667 0.94 0.87 0.98 0.89 0.95 rs196586 . . . . . . . . . . . . . 0.772 0.034 T 0.0 0.026 B 0.002 0.063 B 0.185 0.170 N 1 0.090 P 1.39 0.351 L -3.66 0.952 D -0.33 0.125 N 0.008 0.000 -0.971 0.370 T 0.000 0.000 T . . . 0.747 0.165 9.133 0.909 0.196 0.031 0.080 N c -1.273 -1.193 1.000 0.747 0.731 0.878 0 2.51 0.293 1.189 0.315 -1.471 0.011 0.038 0.207 0.048 0.163 6.01 0.187 Endonuclease/exonuclease/phosphatase ENSG00000122547.6 Artery_Tibial 0.9624 0.8658 0.9280 0.9892 0.9528 0.9814 0.9793 0.9711 0.9685 0.9396 0.8560 0.9415 0.9868 0.9513 0.9742 0.9748 0.9868 hom 939.32 30 7 36320821 . G A 939.32 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.31;VQSLOD=14.2498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:78.24:972,78,0 7 36338749 36338749 T C exonic EEPD1 synonymous SNV EEPD1:NM_030636:exon8:c.T1644C:p.D548D 0.94 0.84 0.97 0.97 0.98 0.98 0.9695 0.8539 0.9445 0.9754 0.9899 0.9882 0.9670 0.9735 0.94 0.85 0.99 0.92 1. rs196613 COSM4162189 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9717 0.8543 0.9484 0.9828 0.9763 0.9885 0.9888 0.9814 0.9736 0.9489 0.8522 0.9558 0.9834 0.9710 0.9842 0.9911 0.9867 hom 2878.22 96 7 36338749 . T C 2878.22 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9155;MQ=59.37;MQ0=0;QD=29.98;VQSLOD=8.8023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2911,253,0 7 36763672 36763672 C T exonic AOAH nonsynonymous SNV AOAH:NM_001177507:exon1:c.G82A:p.D28N,AOAH:NM_001637:exon1:c.G82A:p.D28N 0.35 0.13 0.43 0.52 0.36 0.41 0.3714 0.1469 0.4762 0.5113 0.4672 0.3394 0.3744 0.4574 0.27 0.15 0.33 0.32 0.41 rs2228410 . . . . . . . . . . . . . 0.526 0.071 T 0.0 0.189 B 0.0 0.080 B 0.003 0.009 N 1 0.090 P . . . 0.66 0.524 T -1.08 0.281 N 0.012 0.004 -1.000 0.299 T 0.000 0.000 T . . . -1.047 0.030 0.013 0.530 0.048 0.028 0.074 N c -1.606 -1.652 1.000 0.747 0.487 0.133 0 -0.577 0.111 -0.185 0.096 -0.531 0.049 0.000 0.063 0.000 0.016 5.050 0.137 Saposin B type domain ENSG00000136250.7|ENSG00000136250.7|ENSG00000136250.7|ENSG00000136250.7|ENSG00000136250.7|ENSG00000136250.7|ENSG00000136250.7|ENSG00000136250.7|ENSG00000136250.7|ENSG00000136250.7|ENSG00000136250.7 Adipose_Subcutaneous|Artery_Aorta|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Small_Intestine_Terminal_Ileum|Spleen|Thyroid|Whole_Blood 0.3801 0.1462 0.4560 0.3266 0.5114 0.4716 0.3350 0.3654 0.4566 0.3107 0.1480 0.4379 0.3212 0.5149 0.4779 0.3325 0.3793 het 970.77 79 7 36763672 . C T 970.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.538;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3482;MQ=58.11;MQ0=0;MQRankSum=0.070;QD=12.29;ReadPosRankSum=-1.269;VQSLOD=4.7568;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,39:79:99:1001,0,992 7 37907304 37907304 T C exonic NME8 nonsynonymous SNV NME8:NM_016616:exon11:c.T622C:p.C208R 0.74 0.9 0.73 0.55 0.75 0.72 0.7383 0.8717 0.6683 0.5651 0.7208 0.7531 0.7058 0.7418 0.79 0.86 0.75 0.74 0.78 rs10250905 COSM4162193 1(thyroid) Benign not_specified RCV000151568.2 MedGen CN169374 . . . . . . 0.046 0.405 D 0.001 0.067 B 0.0 0.013 B 0.000 0.452 D 0.000 0.588 P 0 0.065 N 1.04 0.402 T 1.36 0.009 N 0.047 0.044 -1.005 0.284 T 0.000 0.000 T . . . 3.077 0.430 22.5 0.960 0.278 0.010 0.038 N c -0.516 -0.325 0.011 0.122 0.554 0.246 0 4.94 0.645 1.165 0.312 -0.330 0.074 1.000 0.715 0.806 0.338 10.159 0.418 . . . 0.7316 0.8726 0.6689 0.7830 0.5605 0.7258 0.7496 0.7353 0.7470 0.7704 0.8706 0.7112 0.8146 0.5734 0.7120 0.7497 0.7618 hom 2856.10 94 7 37907304 . T C 2856.10 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9323;MQ=59.75;MQ0=0;QD=30.38;VQSLOD=8.4652;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2889,226,0 7 37936530 37936530 T C exonic NME8 synonymous SNV NME8:NM_016616:exon17:c.T1603C:p.L535L 0.21 0.17 0.2 0.23 0.24 0.21 0.2410 0.2025 0.2791 0.2335 0.2327 0.2447 0.2362 0.2310 0.23 0.21 0.24 0.22 0.32 rs3213975 COSM4004470 3(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000151573.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2421 0.2001 0.2735 0.2660 0.2312 0.2496 0.2404 0.2378 0.2286 0.2298 0.2092 0.2758 0.2417 0.2305 0.2384 0.2369 0.2290 hom 4549.45 137 7 37936530 . T C 4549.45 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.73;MQ0=0;QD=33.21;VQSLOD=9.9772;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4549,349,0 7 37951726 37951726 G A exonic SFRP4 synonymous SNV SFRP4:NM_003014:exon4:c.C786T:p.R262R 0.44 0.45 0.45 0.37 0.58 0.34 0.5331 0.4688 0.5279 0.3666 0.5634 0.5941 0.5374 0.4050 0.57 0.48 0.61 0.43 0.7 rs1132553 COSM5424815 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5352 0.4663 0.5265 0.5723 0.3639 0.5785 0.5965 0.5624 0.4044 0.5495 0.4735 0.5501 0.5563 0.3505 0.5846 0.6063 0.5552 hom 4056.35 128 7 37951726 . G A 4056.35 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=57.42;MQ0=0;QD=31.69;VQSLOD=7.1236;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4056,322,0 7 37988589 37988589 C T exonic EPDR1 synonymous SNV EPDR1:NM_001242948:exon2:c.C234T:p.I78I,EPDR1:NM_017549:exon2:c.C417T:p.I139I 0.66 0.51 0.75 0.59 0.78 0.74 0.7415 0.5676 0.7721 0.5996 0.8010 0.7683 0.7874 0.7690 0.7 0.56 0.77 0.61 0.8 rs2044831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7471 0.5592 0.7689 0.7601 0.6018 0.8074 0.7673 0.7748 0.7719 0.7105 0.5674 0.7769 0.7715 0.5973 0.8116 0.7743 0.7567 hom 4047.76 119 7 37988589 . C T 4047.76 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.84;MQ0=0;QD=34.01;VQSLOD=9.4837;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:4047,319,0 7 39472708 39472708 A G exonic POU6F2 synonymous SNV POU6F2:NM_001166018:exon8:c.A1059G:p.P353P,POU6F2:NM_007252:exon8:c.A1059G:p.P353P 0.41 0.54 0.28 0.58 0.24 0.3 0.3157 0.5216 0.3245 0.5892 0.2670 0.2632 0.2838 0.2705 0.35 0.52 0.26 0.43 . rs2302123 COSM4004478 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3104 0.5228 0.3220 0.2917 0.5842 0.2737 0.2564 0.2920 0.2700 0.3522 0.5282 0.3162 0.2748 0.5894 0.2689 0.2527 0.2770 het 971.75 87 7 39472708 . A G 971.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.035;DP=87;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.8285;MQ=59.52;MQ0=0;MQRankSum=0.440;QD=11.17;ReadPosRankSum=0.535;VQSLOD=6.2297;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,44:87:99:1002,0,1105 7 39472846 39472846 G A exonic POU6F2 synonymous SNV POU6F2:NM_001166018:exon8:c.G1197A:p.Q399Q,POU6F2:NM_007252:exon8:c.G1197A:p.Q399Q 0.32 0.33 0.26 0.52 0.24 0.24 0.2870 0.3421 0.3141 0.5235 0.2636 0.2614 0.2666 0.2235 0.28 0.35 0.25 0.36 . rs2302122 COSM4004479 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2861 0.3411 0.3113 0.2852 0.5229 0.2712 0.2550 0.2788 0.2231 0.2965 0.3455 0.3079 0.2733 0.5362 0.2685 0.2511 0.2597 het 1182.14 78 7 39472846 . G A 1182.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.604;DP=78;Dels=0.00;FS=1.915;HRun=1;HaplotypeScore=0.9958;MQ=58.84;MQ0=0;MQRankSum=-0.706;QD=15.16;ReadPosRankSum=0.350;VQSLOD=6.1187;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,46:78:99:1212,0,876 7 40314243 40314243 A G exonic SUGCT synonymous SNV SUGCT:NM_001193311:exon8:c.A729G:p.L243L,SUGCT:NM_001193313:exon8:c.A729G:p.L243L,SUGCT:NM_024728:exon8:c.A618G:p.L206L 0.34 0.21 0.36 0.5 0.29 0.4 0.3258 0.2427 0.3791 0.4902 0.2629 0.3000 0.3352 0.3806 0.28 0.25 0.3 0.23 . rs4637704 COSM5426220;COSM5426221 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3268 0.2389 0.3679 0.3031 0.4930 0.2579 0.3012 0.3328 0.3814 0.2916 0.2340 0.3753 0.2815 0.5012 0.2627 0.3037 0.3094 het 727.97 73 7 40314243 . A G 727.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.360;DP=73;Dels=0.00;FS=0.939;HRun=0;HaplotypeScore=2.8883;MQ=59.36;MQ0=0;MQRankSum=-0.490;QD=9.97;ReadPosRankSum=0.738;VQSLOD=6.3508;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,29:73:99:758,0,1219 7 40899967 40899967 G C exonic SUGCT synonymous SNV SUGCT:NM_001193312:exon13:c.G1083C:p.P361P,SUGCT:NM_001193313:exon14:c.G1227C:p.P409P,SUGCT:NM_001193311:exon15:c.G1305C:p.P435P,SUGCT:NM_024728:exon15:c.G1194C:p.P398P . . . . . . 0.3887 0.2399 0.4104 0.8289 0.3215 0.3612 0.3753 0.3706 0.3 0.22 0.34 0.33 . rs2010706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3926 0.2286 0.4059 0.4810 0.8277 0.3165 0.3562 0.4028 0.3724 0.3366 0.2335 0.3783 0.4636 0.8094 0.3336 0.3396 0.3650 het 2703.43 203 7 40899967 . G C 2703.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.223;DP=203;Dels=0.00;FS=12.082;HRun=5;HaplotypeScore=7.6891;MQ=59.45;MQ0=0;MQRankSum=0.114;QD=13.25;ReadPosRankSum=-1.428;VQSLOD=3.2422;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,100:203:99:2733,0,2427 7 42004600 42004600 G A exonic GLI3 synonymous SNV GLI3:NM_000168:exon15:c.C4071T:p.Y1357Y 0.055 0.067 0.04 0.0069 0.074 0.082 0.0686 0.0604 0.0392 0.0021 0.0472 0.0797 0.0589 0.0940 0.077 0.055 0.089 0.054 0.082 rs34089404 COSM5019131 5(soft_tissue) Benign|Benign|Benign|Benign not_specified|Greig_cephalopolysyndactyly_syndrome|Pallister-Hall_syndrome|Polydactyly RCV000249611.2|RCV000269421.1|RCV000324626.1|RCV000379198.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0265306:175700:32985001|C0265220:146510:ORPHA672:56677004|C0152427:603596:ORPHA2913:367506006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0683 0.0574 0.0419 0.0871 0.0017 0.0524 0.0828 0.0743 0.0917 0.0641 0.0570 0.0489 0.0927 0.0012 0.0541 0.0775 0.0662 het 1260.04 89 7 42004600 . G A 1260.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.899;DP=89;Dels=0.00;FS=12.634;HRun=0;HaplotypeScore=0.5784;MQ=59.58;MQ0=0;MQRankSum=1.195;QD=14.16;ReadPosRankSum=-1.030;VQSLOD=3.9263;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,46:89:99:1290,0,1262 7 42005836 42005836 C G exonic GLI3 synonymous SNV GLI3:NM_000168:exon15:c.G2835C:p.L945L 0.0084 0.0023 0.022 . 0.019 0.0051 0.0212 0.0057 0.0140 0.0006 0.0179 0.0282 0.0231 0.0191 0.014 0.0032 0.019 . 0.025 rs61758978 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Pallister-Hall_syndrome|Polydactyly|Greig_cephalopolysyndactyly_syndrome RCV000174834.2|RCV000267991.1|RCV000323129.1|RCV000377660.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|C0265220:146510:ORPHA672:56677004|C0152427:603596:ORPHA2913:367506006|C0265306:175700:32985001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0197 0.0043 0.0137 0.0312 0.0001 0.0180 0.0266 0.0263 0.0177 0.0162 0.0061 0.0084 0.03 0.0006 0.0209 0.0227 0.0173 het 181.38 26 7 42005836 . C G 181.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.528;DP=26;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.6988;MQ=59.11;MQ0=0;MQRankSum=-0.861;QD=6.98;ReadPosRankSum=-0.694;VQSLOD=4.5824;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,8:26:99:211,0,498 7 42977091 42977091 G A exonic MRPL32 synonymous SNV MRPL32:NM_031903:exon3:c.G483A:p.T161T 0.85 0.78 0.76 0.91 0.87 0.92 0.8686 0.7930 0.7949 0.9027 0.9363 0.8710 0.8700 0.9128 0.84 0.79 0.86 0.86 0.9 rs631132 COSM3762670 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8669 0.7910 0.8045 0.7955 0.9030 0.9332 0.8719 0.8507 0.9121 0.8626 0.7921 0.8091 0.7748 0.8891 0.9362 0.8860 0.8978 hom 2649.47 77 7 42977091 . G A 2649.47 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9566;MQ=57.68;MQ0=0;QD=34.41;VQSLOD=7.3338;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2682,211,0 7 43664280 43664280 A G exonic STK17A nonsynonymous SNV STK17A:NM_004760:exon7:c.A1084G:p.K362E 0.82 0.96 0.85 0.67 0.75 0.84 0.8014 0.9408 0.8836 0.6913 0.8109 0.7705 0.8139 0.8345 0.82 0.93 0.77 0.87 0.75 rs1044141 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.477 N 1 0.090 P -1.445 0.006 N -0.17 0.656 T 0.92 0.016 N 0.022 0.009 -0.940 0.426 T 0.000 0.000 T . . . -1.316 0.022 0.004 0.572 0.056 0.018 0.055 N c -1.462 -1.328 1.000 0.467 0.732 0.924 0 1.04 0.191 1.498 0.350 -0.537 0.048 0.952 0.329 0.752 0.322 9.630 0.387 . ENSG00000106603.13|ENSG00000106603.13|ENSG00000239775.1|ENSG00000106603.13|ENSG00000239775.1|ENSG00000106608.12|ENSG00000164543.5|ENSG00000106605.6|ENSG00000164543.5|ENSG00000106603.13|ENSG00000106603.13|ENSG00000106605.6 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8013 0.9438 0.8778 0.7756 0.6910 0.8048 0.7682 0.8023 0.8337 0.8239 0.9354 0.8723 0.7967 0.6846 0.8056 0.7762 0.8211 het 1307.24 101 7 43664280 . A G 1307.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8561;MQ=58.47;MQ0=0;MQRankSum=-1.165;QD=12.94;ReadPosRankSum=-0.608;VQSLOD=5.4867;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,51:101:99:1337,0,1183 7 43810764 43810764 G A exonic BLVRA nonsynonymous SNV BLVRA:NM_000712:exon2:c.G7A:p.A3T,BLVRA:NM_001253823:exon3:c.G7A:p.A3T 0.82 0.96 0.85 0.68 0.75 0.84 0.8011 0.9385 0.8847 0.6939 0.8048 0.7705 0.8106 0.8338 0.82 0.93 0.77 0.87 0.76 rs699512 COSM5007698 1(large_intestine) . . . . . . . . . . . 0.542 0.067 T 0.0 0.026 B 0.0 0.013 B 0.781 0.095 N 1 0.090 P -0.345 0.033 N 1.92 0.231 T 0.4 0.057 N 0.024 0.341 -0.956 0.399 T 0.000 0.000 T . . . -0.467 0.057 0.265 0.744 0.103 0.031 0.079 N c -1.535 -1.495 1.000 0.747 0.719 0.830 0 1.38 0.212 -0.538 0.062 -1.076 0.019 0.037 0.206 0.903 0.383 7.604 0.271 . ENSG00000106603.13|ENSG00000106603.13|ENSG00000239775.1|ENSG00000106603.13|ENSG00000078967.8|ENSG00000239775.1|ENSG00000106608.12|ENSG00000164543.5|ENSG00000106605.6|ENSG00000164543.5|ENSG00000106603.13|ENSG00000106605.6 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8007 0.9407 0.8779 0.7810 0.6940 0.8 0.7678 0.8006 0.8331 0.8218 0.9310 0.8699 0.7947 0.6900 0.8023 0.7752 0.8156 het 1145.93 99 7 43810764 . G A 1145.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.089;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=0.259;QD=11.58;ReadPosRankSum=-1.972;VQSLOD=6.0757;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,49:99:99:1176,0,1456 7 43846603 43846603 A G exonic BLVRA synonymous SNV BLVRA:NM_000712:exon8:c.A660G:p.G220G,BLVRA:NM_001253823:exon9:c.A660G:p.G220G 0.47 0.61 0.37 0.4 0.35 0.57 0.4199 0.5421 0.3568 0.4195 0.3778 0.3859 0.4229 0.5413 0.43 0.53 0.38 0.58 0.39 rs7738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4136 0.5488 0.3613 0.4687 0.4125 0.3832 0.3772 0.4198 0.5395 0.4301 0.5458 0.3792 0.46 0.4081 0.3951 0.3761 0.4236 het 1117.04 91 7 43846603 . A G 1117.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.866;DP=91;Dels=0.00;FS=8.554;HRun=2;HaplotypeScore=1.8936;MQ=58.73;MQ0=0;MQRankSum=1.751;QD=12.28;ReadPosRankSum=0.608;VQSLOD=4.7121;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,44:91:99:1147,0,1143 7 43916727 43916727 T G exonic URGCP nonsynonymous SNV URGCP:NM_017920:exon5:c.A2308C:p.M770L,URGCP:NM_001077663:exon6:c.A2335C:p.M779L,URGCP:NM_001077664:exon6:c.A2206C:p.M736L,URGCP:NM_001290075:exon6:c.A2206C:p.M736L,URGCP:NM_001290076:exon7:c.A2206C:p.M736L 0.51 0.39 0.52 0.58 0.46 0.65 0.5157 0.3915 0.6388 0.5656 0.4724 0.4830 0.5301 0.6256 0.44 0.38 0.47 0.54 0.45 rs2232108 COSM3768381;COSM3768380 1(liver);1(thyroid) . . . . . . . . . . . 0.017 0.512 D 0.001 0.067 B 0.001 0.040 B 0.006 0.325 N 0.994 0.237 P 2.2 0.622 M 0.27 0.592 T -0.07 0.080 N 0.132 0.156 -0.947 0.415 T 0.000 0.000 T . . . 3.367 0.463 22.9 0.952 0.257 0.467 0.276 N c -0.399 -0.298 0.981 0.301 0.732 0.924 0 3.0 0.336 0.634 0.241 1.011 0.635 0.236 0.245 0.996 0.625 3.030 0.057 P-loop containing nucleoside triphosphate hydrolase|Very large inducible GTPASE (VLIG)-type guanine nucleotide-binding (G) domain ENSG00000214783.5|ENSG00000241057.1|ENSG00000214783.5|ENSG00000214783.5|ENSG00000239775.1|ENSG00000106608.12|ENSG00000239775.1|ENSG00000214783.5|ENSG00000078967.8|ENSG00000239556.2|ENSG00000239775.1|ENSG00000106608.12|ENSG00000241057.1|ENSG00000214783.5|ENSG00000239775.1|ENSG00000214783.5|ENSG00000241057.1|ENSG00000239775.1|ENSG00000239775.1|ENSG00000239556.2|ENSG00000214783.5|ENSG00000239775.1|ENSG00000214783.5|ENSG00000239775.1|ENSG00000214783.5|ENSG00000239775.1|ENSG00000241057.1|ENSG00000214783.5|ENSG00000239775.1|ENSG00000239775.1|ENSG00000106605.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5194 0.3867 0.6250 0.5189 0.5612 0.4745 0.4805 0.5088 0.6222 0.4656 0.3907 0.5859 0.5232 0.5602 0.4771 0.4849 0.5174 het 1219.15 103 7 43916727 . T G 1219.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.997;DP=103;Dels=0.00;FS=1.699;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=1.217;QD=11.84;ReadPosRankSum=0.190;VQSLOD=6.4554;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,44:103:99:1249,0,1582 7 43917013 43917013 G A exonic URGCP synonymous SNV URGCP:NM_017920:exon5:c.C2022T:p.H674H,URGCP:NM_001077663:exon6:c.C2049T:p.H683H,URGCP:NM_001077664:exon6:c.C1920T:p.H640H,URGCP:NM_001290075:exon6:c.C1920T:p.H640H,URGCP:NM_001290076:exon7:c.C1920T:p.H640H 0.49 0.33 0.52 0.58 0.46 0.65 0.5111 0.3288 0.6371 0.5649 0.4730 0.4837 0.5291 0.6256 0.42 0.32 0.47 0.5 0.44 rs2232105 COSM3724091;COSM3724090 2(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5148 0.3230 0.6219 0.5183 0.5608 0.4738 0.4801 0.5062 0.6220 0.4464 0.3232 0.5813 0.5232 0.5613 0.4771 0.4849 0.5143 het 1218.33 90 7 43917013 . G A 1218.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.756;DP=90;Dels=0.00;FS=1.823;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=-0.966;QD=13.54;ReadPosRankSum=0.902;VQSLOD=6.0947;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,48:90:99:1248,0,1090 7 43917274 43917274 A G exonic URGCP synonymous SNV URGCP:NM_017920:exon5:c.T1761C:p.H587H,URGCP:NM_001077663:exon6:c.T1788C:p.H596H,URGCP:NM_001077664:exon6:c.T1659C:p.H553H,URGCP:NM_001290075:exon6:c.T1659C:p.H553H,URGCP:NM_001290076:exon7:c.T1659C:p.H553H 0.74 0.8 0.71 0.73 0.68 0.78 0.7098 0.7960 0.7560 0.7245 0.6471 0.6760 0.7189 0.7798 0.72 0.81 0.68 0.77 0.62 rs2232103 COSM4406924;COSM4406925 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7090 0.7986 0.7484 0.6908 0.7270 0.6427 0.6782 0.6952 0.7785 0.7131 0.7952 0.7398 0.6556 0.7333 0.6416 0.6799 0.7059 het 1397.14 103 7 43917274 . A G 1397.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.905;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.00;MQ0=0;MQRankSum=1.074;QD=13.56;ReadPosRankSum=-2.257;VQSLOD=5.6751;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,57:103:99:1427,0,1164 7 44147485 44147485 C A exonic AEBP1 nonsynonymous SNV AEBP1:NM_001129:exon5:c.C817A:p.P273T 0.36 0.37 0.27 0.27 0.35 0.5 0.4294 0.4119 0.3609 0.2876 0.4635 0.4287 0.4069 0.5354 0.37 0.35 0.37 0.28 0.16 rs2537188 COSM453091 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.146 0.250 T 0.039 0.197 B 0.01 0.139 B 0.000 0.002 N 1 0.090 P 0.695 0.181 N 1.05 0.400 T -0.45 0.148 N 0.021 0.005 -0.981 0.348 T 0.000 0.000 T . . . 0.398 0.132 6.600 0.964 0.291 0.049 0.105 N c -0.883 -0.884 1.000 0.480 0.696 0.567 0 1.41 0.214 0.072 0.144 -0.057 0.122 0.001 0.137 0.257 0.229 7.779 0.280 . ENSG00000106624.4|ENSG00000106624.4|ENSG00000228903.2|ENSG00000106624.4 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial 0.3788 0.3681 0.3085 0.3917 0.2365 0.4220 0.3800 0.3612 0.5042 0.3719 0.3619 0.3041 0.3709 0.2341 0.4178 0.3830 0.4123 hom 632.39 23 7 44147485 . C A 632.39 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.50;VQSLOD=12.7066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.13:665,57,0 7 44148553 44148553 A G exonic AEBP1 synonymous SNV AEBP1:NM_001129:exon7:c.A996G:p.T332T 0.79 0.89 0.79 0.85 0.68 0.7 0.7304 0.8583 0.8384 0.8591 0.7123 0.6889 0.6797 0.6867 0.74 0.86 0.68 0.83 0.51 rs2595701 COSM4162221 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7213 0.8611 0.8251 0.6783 0.8700 0.6933 0.6718 0.7066 0.6705 0.7440 0.8614 0.7947 0.6921 0.8852 0.6963 0.6726 0.6973 hom 427.60 15 7 44148553 . A G 427.60 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=28.51;VQSLOD=8.3890;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.11:461,39,0 7 44259706 44259706 G A exonic CAMK2B synonymous SNV CAMK2B:NM_172084:exon15:c.C1305T:p.N435N,CAMK2B:NM_172083:exon17:c.C1395T:p.N465N,CAMK2B:NM_172081:exon18:c.C1467T:p.N489N,CAMK2B:NM_172079:exon19:c.C1512T:p.N504N,CAMK2B:NM_172080:exon19:c.C1509T:p.N503N,CAMK2B:NM_172082:exon19:c.C1434T:p.N478N,CAMK2B:NM_001293170:exon20:c.C1584T:p.N528N,CAMK2B:NM_172078:exon20:c.C1584T:p.N528N,CAMK2B:NM_001220:exon23:c.C1956T:p.N652N 0.34 0.16 0.32 0.39 0.41 0.47 0.4449 0.2491 0.4239 0.3943 0.5742 0.4641 0.4293 0.4708 0.35 0.22 0.42 0.28 0.44 rs1065359 COSM3762677 2(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4064 0.2029 0.3733 0.4501 0.3447 0.5080 0.4229 0.3996 0.4369 0.3770 0.2237 0.3585 0.4305 0.3716 0.5123 0.4314 0.4337 het 359.59 48 7 44259706 . G A 359.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.093;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=59.42;MQ0=0;MQRankSum=-0.400;QD=7.49;ReadPosRankSum=-0.934;VQSLOD=5.6904;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,15:48:99:390,0,865 7 44259871 44259871 C T exonic CAMK2B synonymous SNV CAMK2B:NM_172084:exon15:c.G1140A:p.P380P,CAMK2B:NM_172083:exon17:c.G1230A:p.P410P,CAMK2B:NM_172081:exon18:c.G1302A:p.P434P,CAMK2B:NM_172079:exon19:c.G1347A:p.P449P,CAMK2B:NM_172080:exon19:c.G1344A:p.P448P,CAMK2B:NM_172082:exon19:c.G1269A:p.P423P,CAMK2B:NM_001293170:exon20:c.G1419A:p.P473P,CAMK2B:NM_172078:exon20:c.G1419A:p.P473P,CAMK2B:NM_001220:exon23:c.G1791A:p.P597P 0.34 0.17 0.32 0.4 0.41 0.46 0.4064 0.2163 0.3790 0.3596 0.5159 0.4296 0.3900 0.4316 0.36 0.23 0.43 0.29 0.47 rs1127065 COSM453109 1(lung);2(thyroid);1(large_intestine);1(biliary_tract) . . . . . Metabolic syndrome . .08 22399527 rs1127065 9E-11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4070 0.2076 0.3739 0.4529 0.3555 0.5102 0.4224 0.3991 0.4277 0.3801 0.2304 0.3628 0.4272 0.3817 0.5126 0.4327 0.4293 het 1343.79 115 7 44259871 . C T 1343.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.622;DP=115;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=3.7552;MQ=58.95;MQ0=0;MQRankSum=-1.556;QD=11.69;ReadPosRankSum=2.435;VQSLOD=4.1780;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,50:115:99:1374,0,1592 7 44282868 44282868 A G exonic CAMK2B synonymous SNV CAMK2B:NM_001220:exon8:c.T582C:p.P194P,CAMK2B:NM_001293170:exon8:c.T582C:p.P194P,CAMK2B:NM_172078:exon8:c.T582C:p.P194P,CAMK2B:NM_172079:exon8:c.T582C:p.P194P,CAMK2B:NM_172080:exon8:c.T582C:p.P194P,CAMK2B:NM_172081:exon8:c.T582C:p.P194P,CAMK2B:NM_172082:exon8:c.T582C:p.P194P,CAMK2B:NM_172083:exon8:c.T582C:p.P194P,CAMK2B:NM_172084:exon8:c.T582C:p.P194P 0.34 0.29 0.32 0.22 0.42 0.44 0.3966 0.3077 0.2416 0.2628 0.3776 0.4448 0.4271 0.4423 0.4 0.31 0.44 0.34 0.47 rs11542228 COSM3762678 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3898 0.3093 0.2484 0.4978 0.2687 0.3663 0.4408 0.4253 0.4432 0.3789 0.3141 0.3022 0.5567 0.2701 0.3607 0.4322 0.3992 hom 2155.95 72 7 44282868 . A G 2155.95 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5810;MQ=59.68;MQ0=0;QD=29.94;VQSLOD=8.5706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2189,187,0 7 44282877 44282877 A G exonic CAMK2B synonymous SNV CAMK2B:NM_001220:exon8:c.T573C:p.Y191Y,CAMK2B:NM_001293170:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172078:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172079:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172080:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172081:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172082:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172083:exon8:c.T573C:p.Y191Y,CAMK2B:NM_172084:exon8:c.T573C:p.Y191Y 0.21 0.098 0.22 0.11 0.36 0.3 0.2987 0.1281 0.1922 0.1298 0.3538 0.3595 0.3296 0.3008 0.28 0.13 0.36 0.22 0.33 rs11542227 COSM3762679 1(bone);2(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2989 0.1278 0.1979 0.3965 0.1327 0.3415 0.3577 0.3347 0.3057 0.2756 0.1320 0.2249 0.47 0.1319 0.3383 0.3556 0.3350 hom 2476.27 84 7 44282877 . A G 2476.27 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3899;MQ=59.20;MQ0=0;QD=29.48;VQSLOD=6.1319;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2509,220,0 7 44444122 44444122 G A exonic NUDCD3 nonsynonymous SNV NUDCD3:NM_015332:exon4:c.C703T:p.R235C 0.072 0.017 0.081 0.005 0.17 0.11 0.1418 0.0372 0.0611 0.0023 0.1898 0.1860 0.1333 0.1400 0.14 0.045 0.19 0.065 0.16 rs11550029 COSM453111 1(pancreas);1(thyroid) . . . . . . . . . . . 0.04 0.421 D 0.041 0.200 B 0.125 0.310 B 0.001 0.437 D 0.000 0.548 P 1.885 0.502 L 2.5 0.144 T -2.49 0.542 N 0.247 0.302 -1.009 0.273 T 0.000 0.000 T . . . 5.654 0.771 26.7 0.998 0.896 0.988 0.869 D c 0.105 0.273 1.000 0.747 0.707 0.730 0 5.39 0.775 4.918 0.628 1.048 0.713 1.000 0.715 0.984 0.507 18.752 0.917 CS domain|HSP20-like chaperone ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.1392 0.0343 0.0611 0.1754 0.0026 0.1911 0.1849 0.1342 0.1394 0.1365 0.0412 0.0668 0.1755 0.0025 0.1892 0.1950 0.1711 het 3085.24 232 7 44444122 . G A 3085.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.002;DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.58;MQ0=0;MQRankSum=0.274;QD=13.30;ReadPosRankSum=-0.274;VQSLOD=6.9261;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:108,123:232:99:3115,0,2583 7 44530193 44530193 T G exonic NUDCD3 nonsynonymous SNV NUDCD3:NM_015332:exon1:c.A7C:p.T3P 0.16 0.3 0.14 0.005 0.19 0.12 0.2340 0.3496 0.1237 0.0037 0.2791 0.2663 0.2337 0.1905 0.24 0.28 0.22 0.21 0.15 rs307007 COSM4162230 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.420 N 1.000 0.191 P -0.55 0.024 N 0.59 0.540 T 0.58 0.026 N 0.047 0.028 -1.010 0.270 T 0.000 0.000 T . . . -0.421 0.060 0.345 0.603 0.063 0.007 0.030 N c -0.885 -0.684 1.0 0.983 0.468 0.091 2 4.44 0.530 1.625 0.364 0.136 0.221 1.000 0.715 0.289 0.235 7.881 0.286 . ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13|ENSG00000015676.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Prostate|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.1798 0.3002 0.0932 0.2114 0.0029 0.2026 0.2191 0.1711 0.1573 0.2308 0.3029 0.1074 0.2252 0.0025 0.1996 0.2297 0.2047 het 466.65 27 7 44530193 . T G 466.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.289;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9973;MQ=60.00;MQ0=0;MQRankSum=0.437;QD=17.28;ReadPosRankSum=1.312;VQSLOD=5.3947;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,18:27:99:497,0,203 7 44553238 44553238 A G exonic NPC1L1 synonymous SNV NPC1L1:NM_001101648:exon19:c.T3807C:p.V1269V,NPC1L1:NM_013389:exon20:c.T3888C:p.V1296V 0.12 0.15 0.12 0.005 0.18 0.12 0.1651 0.1583 0.0761 0.0023 0.1953 0.2021 0.1514 0.1564 0.19 0.17 0.2 0.15 0.16 rs217434 . . Benign not_specified RCV000455992.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1593 0.1534 0.0771 0.1921 0.0027 0.1962 0.2006 0.1565 0.1566 0.1810 0.1644 0.0955 0.1854 0.0018 0.1952 0.2108 0.1922 het 1383.91 91 7 44553238 . A G 1383.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.794;DP=91;Dels=0.00;FS=2.515;HRun=0;HaplotypeScore=2.8515;MQ=58.96;MQ0=0;MQRankSum=0.395;QD=15.21;ReadPosRankSum=-1.615;VQSLOD=5.8400;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,50:91:99:1414,0,1127 7 44555406 44555406 G A exonic NPC1L1 synonymous SNV NPC1L1:NM_001101648:exon18:c.C3792T:p.Y1264Y,NPC1L1:NM_013389:exon19:c.C3873T:p.Y1291Y 0.081 0.026 0.1 0.005 0.21 0.086 0.1686 0.0477 0.0775 0.0023 0.2813 0.2257 0.1689 0.1194 0.17 0.056 0.23 0.098 0.14 rs10264715 . . Benign not_specified RCV000455032.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1672 0.0447 0.0762 0.2180 0.0026 0.2792 0.2228 0.1730 0.1202 0.1730 0.0524 0.0873 0.2285 0.0019 0.2755 0.2391 0.2112 het 1409.98 125 7 44555406 . G A 1409.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.743;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5779;MQ=58.88;MQ0=0;MQRankSum=1.012;QD=11.28;ReadPosRankSum=0.470;VQSLOD=6.5541;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,55:125:99:1440,0,1737 7 44578740 44578740 C G exonic NPC1L1 nonsynonymous SNV NPC1L1:NM_001101648:exon2:c.G1256C:p.S419T,NPC1L1:NM_001300967:exon2:c.G1256C:p.S419T,NPC1L1:NM_013389:exon2:c.G1256C:p.S419T . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.443 0.092 T 0.048 0.417 B 0.009 0.365 B 0.002 0.381 N 1 0.090 N 1.72 0.446 L -2.37 0.882 D -0.93 0.249 N 0.101 0.203 -0.463 0.700 T 0.515 0.818 D 0.063 0.689 D 0.079 0.101 3.380 0.774 0.114 0.795 0.391 D c -0.296 -0.236 1.000 0.747 0.487 0.133 0 4.15 0.478 1.899 0.392 0.852 0.362 0.006 0.172 0.988 0.529 11.909 0.518 . . . 4.061e-06 0 0 0 0 0 8.952e-06 0 0 . . . . . . . . het 1729.09 132 7 44578740 . C G 1729.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.965;DP=132;Dels=0.00;FS=8.840;HRun=1;HaplotypeScore=2.5160;MQ=59.30;MQ0=0;MQRankSum=-1.116;QD=13.10;ReadPosRankSum=1.804;VQSLOD=2.3775;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,70:132:99:1759,0,1739 7 44579180 44579180 G C exonic NPC1L1 synonymous SNV NPC1L1:NM_001101648:exon2:c.C816G:p.L272L,NPC1L1:NM_001300967:exon2:c.C816G:p.L272L,NPC1L1:NM_013389:exon2:c.C816G:p.L272L 0.25 0.2 0.24 0.37 0.23 0.2 0.2477 0.2147 0.2552 0.3650 0.3652 0.2330 0.2678 0.2136 0.22 0.22 0.22 0.22 0.2 rs2072183 . . Benign not_specified RCV000454514.1 MedGen CN169374 Cholesterol; total . 2.01 20686565 rs2072183 3E-11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2496 0.2100 0.2541 0.2058 0.3643 0.3705 0.2283 0.2339 0.2064 0.2560 0.2108 0.2297 0.23 0.3930 0.3654 0.2434 0.2648 het 1276.87 91 7 44579180 . G C 1276.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.581;DP=91;Dels=0.00;FS=2.817;HRun=1;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;MQRankSum=-1.320;QD=14.03;ReadPosRankSum=-0.052;VQSLOD=5.4652;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,44:91:99:1307,0,1120 7 44606098 44606098 C T exonic DDX56 synonymous SNV DDX56:NM_001257189:exon12:c.G1395A:p.V465V,DDX56:NM_019082:exon13:c.G1515A:p.V505V 0.76 0.93 0.63 0.84 0.57 0.7 0.6639 0.8646 0.6363 0.7998 0.6037 0.6079 0.6816 0.6924 0.68 0.86 0.59 0.72 0.47 rs6656 COSM453115 2(urinary_tract);1(skin);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6263 0.8749 0.6192 0.6699 0.8138 0.5730 0.5547 0.6467 0.6857 0.6812 0.8761 0.6238 0.7086 0.8281 0.6015 0.5772 0.6155 het 163.95 10 7 44606098 . C T 163.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;MQRankSum=-2.166;QD=16.39;ReadPosRankSum=-0.296;VQSLOD=5.4785;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:83.79:194,0,84 7 44620836 44620836 C A exonic TMED4 synonymous SNV TMED4:NM_001303060:exon3:c.G213T:p.R71R,TMED4:NM_001303062:exon3:c.G213T:p.R71R,TMED4:NM_001303058:exon4:c.G390T:p.R130R,TMED4:NM_001303061:exon4:c.G213T:p.R71R,TMED4:NM_182547:exon4:c.G390T:p.R130R 0.77 0.96 0.64 0.84 0.59 0.71 0.6593 0.9004 0.6392 0.8410 0.5908 0.5995 0.7081 0.6930 0.7 0.89 0.61 0.77 0.61 rs8580 COSM5619472 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6548 0.9057 0.6425 0.6846 0.8320 0.5884 0.5954 0.6667 0.6958 0.6965 0.8960 0.6372 0.7133 0.8292 0.6042 0.5950 0.6253 het 1628.74 159 7 44620836 . C A 1628.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.401;DP=159;Dels=0.00;FS=4.799;HRun=0;HaplotypeScore=6.2498;MQ=59.42;MQ0=0;MQRankSum=0.260;QD=10.24;ReadPosRankSum=0.480;VQSLOD=4.7349;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,67:159:99:1659,0,2545 7 44800176 44800176 G T exonic ZMIZ2 nonsynonymous SNV ZMIZ2:NM_174929:exon7:c.G1146T:p.L382F,ZMIZ2:NM_001300959:exon8:c.G1050T:p.L350F,ZMIZ2:NM_031449:exon9:c.G1224T:p.L408F 0.15 0.014 0.19 0.14 0.3 0.16 0.2418 0.0516 0.2037 0.1306 0.4419 0.2879 0.2567 0.1722 0.2 0.055 0.28 0.14 0.25 rs3735478 COSM4004486 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.028 0.473 D 1.0 0.899 D 0.991 0.782 D 0.000 0.449 D 0.001 0.470 P 2.25 0.640 M 0.68 0.520 T -2.39 0.540 N 0.209 0.256 -1.031 0.202 T 0.000 0.000 T . . . 3.217 0.446 22.7 0.999 0.942 0.919 0.542 D c 0.253 0.207 1.000 0.448 0.707 0.730 0 2.59 0.300 0.748 0.258 0.135 0.219 0.998 0.411 0.949 0.424 8.409 0.316 . . . 0.2465 0.0481 0.2073 0.1980 0.1327 0.4382 0.2878 0.2568 0.1768 0.2337 0.0554 0.2253 0.1887 0.1205 0.4422 0.2976 0.3169 het 2163.21 195 7 44800176 . G T 2163.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.309;DP=195;Dels=0.00;FS=0.541;HRun=2;HaplotypeScore=6.9539;MQ=59.57;MQ0=0;MQRankSum=1.546;QD=11.09;ReadPosRankSum=-0.887;VQSLOD=4.3678;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,87:195:99:2193,0,3010 7 45004063 45004063 T C exonic MYO1G nonsynonymous SNV MYO1G:NM_033054:exon19:c.A2582G:p.Q861R 0.9 0.98 0.86 0.89 0.85 0.88 0.8687 0.9666 0.9125 0.9132 0.8806 0.8405 0.8601 0.8628 0.88 0.96 0.84 0.96 0.78 rs7792760 . . . . . . . . . . . . . 0.738 0.037 T 0.0 0.026 B 0.001 0.040 B 0.384 0.133 N 1 0.090 P -1.1 0.010 N -2.16 0.866 D 1.59 0.007 N 0.037 0.017 -0.981 0.348 T 0.000 0.000 T . . . -1.817 0.011 0.002 0.408 0.029 0.024 0.066 N c -2.024 -1.944 1.000 0.747 0.672 0.522 0 -0.409 0.117 -0.037 0.120 -1.240 0.015 0.000 0.063 0.068 0.175 9.293 0.368 Class I myosin tail homology domain ENSG00000136270.9|ENSG00000136274.8|ENSG00000136280.11|ENSG00000232956.4 Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal|Testis 0.8679 0.9693 0.8979 0.8209 0.9083 0.8827 0.8413 0.8565 0.8647 0.8824 0.9658 0.8902 0.8477 0.9275 0.8777 0.8327 0.8450 hom 5477.05 189 7 45004063 . T C 5477.05 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.7985;MQ=59.38;MQ0=0;QD=28.98;VQSLOD=7.7908;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:5476,436,0 7 45005795 45005795 G A exonic MYO1G synonymous SNV MYO1G:NM_033054:exon16:c.C2034T:p.H678H 0.11 0.046 0.17 0.094 0.22 0.063 0.1728 0.0628 0.1459 0.0988 0.3650 0.2117 0.1885 0.0675 0.16 0.07 0.2 0.065 0.11 rs2269969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1722 0.0617 0.1425 0.1155 0.1013 0.3447 0.2079 0.1916 0.0660 0.1811 0.0635 0.1539 0.1093 0.1094 0.3442 0.2213 0.1982 het 905.84 54 7 45005795 . G A 905.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.248;DP=54;Dels=0.00;FS=11.644;HRun=0;HaplotypeScore=3.8308;MQ=59.57;MQ0=0;MQRankSum=0.284;QD=16.77;ReadPosRankSum=-0.621;VQSLOD=3.8397;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,33:54:99:936,0,607 7 45009325 45009325 G A exonic MYO1G synonymous SNV MYO1G:NM_033054:exon11:c.C1482T:p.H494H 0.42 0.32 0.37 0.61 0.41 0.4 0.4079 0.3241 0.3576 0.6154 0.3558 0.4077 0.4302 0.4076 0.38 0.32 0.41 0.45 0.34 rs3735484 COSM3762680 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4068 0.3145 0.3612 0.4716 0.6082 0.3578 0.4045 0.4101 0.4109 0.3707 0.3122 0.3885 0.5 0.6276 0.3648 0.3742 0.3776 het 1400.20 125 7 45009325 . G A 1400.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.400;DP=125;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=9.1891;MQ=59.37;MQ0=0;MQRankSum=0.567;QD=11.20;ReadPosRankSum=-0.135;VQSLOD=4.2112;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,58:125:99:1430,0,1952 7 45009341 45009341 A G exonic MYO1G nonsynonymous SNV MYO1G:NM_033054:exon11:c.T1466C:p.M489T 0.9 0.98 0.86 0.89 0.84 0.88 0.8687 0.9668 0.9115 0.9147 0.8799 0.8404 0.8592 0.8629 0.88 0.96 0.84 0.96 0.66 rs3735485 COSM4162234 1(thyroid) . . . . . . . . . . . 0.45 0.090 T 0.0 0.026 B 0.0 0.013 B 0.119 0.191 N 1 0.090 P -1.365 0.006 N -0.5 0.705 T 1.04 0.013 N 0.056 0.039 -0.991 0.323 T 0.000 0.000 T . . . -0.108 0.084 1.673 0.302 0.016 0.048 0.103 N c -0.995 -0.819 1.000 0.747 0.672 0.522 0 4.04 0.461 0.680 0.248 -0.343 0.071 0.581 0.274 0.408 0.255 5.173 0.143 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000136270.9|ENSG00000136270.9|ENSG00000136280.11|ENSG00000232956.4|ENSG00000136270.9 Artery_Tibial|Esophagus_Mucosa|Muscle_Skeletal|Testis|Thyroid 0.8674 0.9692 0.8957 0.8249 0.9095 0.8815 0.8408 0.8556 0.8643 0.8820 0.9651 0.8854 0.8510 0.9305 0.8774 0.8322 0.8453 hom 4317.56 145 7 45009341 . A G 4317.56 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4890;MQ=58.85;MQ0=0;QD=29.78;VQSLOD=7.8647;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4316,370,0 7 45009723 45009723 G A exonic MYO1G synonymous SNV MYO1G:NM_033054:exon10:c.C1248T:p.N416N 0.58 0.47 0.61 0.76 0.56 0.56 0.5891 0.4902 0.7237 0.7757 0.5098 0.5684 0.5844 0.5743 0.55 0.49 0.58 0.63 0.51 rs11555636 COSM3762681 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5920 0.4770 0.7025 0.6021 0.7678 0.5149 0.5668 0.5740 0.5770 0.5412 0.4802 0.6742 0.6490 0.7834 0.5112 0.5465 0.5625 het 787.95 65 7 45009723 . G A 787.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.624;DP=65;Dels=0.00;FS=2.094;HRun=0;HaplotypeScore=0.6651;MQ=59.07;MQ0=0;MQRankSum=0.519;QD=12.12;ReadPosRankSum=-0.532;VQSLOD=5.9675;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,31:65:99:818,0,856 7 45015107 45015107 G A exonic MYO1G synonymous SNV MYO1G:NM_033054:exon4:c.C540T:p.H180H 0.13 0.1 0.18 0.096 0.23 0.065 0.1833 0.1107 0.1481 0.0986 0.3607 0.2190 0.1931 0.0754 0.18 0.11 0.21 0.076 0.16 rs61738857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1826 0.1120 0.1467 0.1201 0.1031 0.3478 0.2187 0.1992 0.0681 0.2025 0.1130 0.1607 0.1126 0.1109 0.3487 0.2343 0.2061 het 699.07 63 7 45015107 . G A 699.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.219;DP=63;Dels=0.00;FS=0.952;HRun=0;HaplotypeScore=0.9973;MQ=58.51;MQ0=0;MQRankSum=0.365;QD=11.10;ReadPosRankSum=-2.131;VQSLOD=5.1258;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,29:63:99:729,0,965 7 45016621 45016621 C T exonic MYO1G nonsynonymous SNV MYO1G:NM_033054:exon2:c.G145A:p.V49M 0.14 0.13 0.19 0.095 0.23 0.06 0.1826 0.1397 0.1497 0.0986 0.3573 0.2176 0.1924 0.0661 0.19 0.15 0.21 0.098 0.14 rs61739531 . . . . . . . . . . . . . 0.203 0.201 T 0.987 0.600 D 0.73 0.534 P 0.005 0.337 N 0.000 0.524 P 1.93 0.516 L -2.76 0.909 D -2.05 0.470 N 0.298 0.358 -1.179 0.004 T 0.001 0.002 T . . . 5.295 0.716 25.7 0.997 0.787 0.668 0.329 D c 0.425 0.397 1.000 0.747 0.628 0.401 0 3.93 0.445 4.010 0.566 0.855 0.374 0.999 0.424 0.990 0.544 9.758 0.395 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000136286.10 Whole_Blood 0.1854 0.1446 0.1496 0.1204 0.1030 0.3488 0.2200 0.2010 0.0661 0.2132 0.1477 0.1623 0.1126 0.1095 0.3494 0.2360 0.2080 het 1030.13 87 7 45016621 . C T 1030.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.076;DP=87;Dels=0.00;FS=13.017;HRun=0;HaplotypeScore=1.6828;MQ=59.14;MQ0=0;MQRankSum=1.467;QD=11.84;ReadPosRankSum=-2.436;VQSLOD=2.6079;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,41:87:99:1060,0,1102 7 45217015 45217015 T C exonic RAMP3 nonsynonymous SNV RAMP3:NM_005856:exon2:c.T166C:p.W56R 0.064 0.023 0.081 0.11 0.055 0.073 0.0637 0.0251 0.0835 0.0997 0.0652 0.0589 0.0697 0.0740 0.048 0.026 0.06 0.087 0.057 rs2074654 COSM150281 1(stomach);2(soft_tissue);2(large_intestine) . . . . . . . . . . . 0.028 0.465 D 1.0 0.899 D 1.0 0.971 D 0.000 0.523 N 0.023 0.393 P 2.955 0.853 M 0.39 0.574 T -12.88 0.998 D 0.232 0.284 -0.822 0.538 T 0.015 0.063 T . . . 2.562 0.369 19.87 0.982 0.382 0.382 0.257 N c 0.042 -0.077 0.063 0.153 0.646 0.450 0 1.79 0.239 1.082 0.302 -0.842 0.029 1.000 0.715 0.991 0.552 6.103 0.192 . . . 0.0662 0.0244 0.0842 0.0462 0.0981 0.0641 0.0618 0.0649 0.0736 0.0525 0.0258 0.0931 0.0497 0.0832 0.0601 0.0605 0.0562 het 1752.79 140 7 45217015 . T C 1752.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.948;DP=140;Dels=0.00;FS=1.373;HRun=0;HaplotypeScore=4.6867;MQ=59.70;MQ0=0;MQRankSum=0.517;QD=12.52;ReadPosRankSum=0.632;VQSLOD=5.6975;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,69:140:99:1783,0,1789 7 45753324 45753324 G A exonic ADCY1 synonymous SNV ADCY1:NM_021116:exon20:c.G3090A:p.R1030R 0.17 0.32 0.12 0.12 0.17 0.038 0.1490 0.3147 0.0861 0.1071 0.1378 0.1671 0.1344 0.0432 0.21 0.3 0.17 0.11 0.16 rs2293106 COSM4415829 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1453 0.3192 0.0978 0.1997 0.1074 0.1300 0.1665 0.1651 0.0449 0.1933 0.3196 0.1384 0.1987 0.1071 0.1282 0.1509 0.1375 het 2009.20 155 7 45753324 . G A 2009.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.654;DP=155;Dels=0.00;FS=2.202;HRun=0;HaplotypeScore=7.7609;MQ=59.29;MQ0=1;MQRankSum=-1.976;QD=12.96;ReadPosRankSum=-0.277;VQSLOD=3.3629;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,81:155:99:2039,0,1963 7 45932669 45932669 A G exonic IGFBP1 nonsynonymous SNV IGFBP1:NM_000596:exon4:c.A759G:p.I253M 0.38 0.44 0.36 0.53 0.33 0.18 0.3557 0.4606 0.3934 0.5384 0.3341 0.3505 0.3219 0.1994 0.39 0.45 0.35 0.34 0.39 rs4619 COSM3762690 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.129 0.306 T 0.001 0.102 B 0.0 0.104 B 0.096 0.201 N 1 0.090 P 0.345 0.112 N -0.01 0.628 T 1.59 0.007 N 0.009 0.001 -0.939 0.428 T 0.000 0.000 T . . . -1.231 0.024 0.006 0.383 0.026 0.023 0.065 N c -1.232 -1.152 1.000 0.747 0.648 0.455 0 1.51 0.220 1.084 0.302 -0.891 0.027 0.993 0.376 0.000 0.016 6.171 0.195 Thyroglobulin type-1 . . 0.3544 0.4583 0.3840 0.3218 0.5507 0.3270 0.3522 0.3445 0.2003 0.3865 0.4409 0.3804 0.3642 0.5632 0.3343 0.3517 0.3442 het 1409 99 7 45932669 . A G 1409 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.348;DP=99;Dels=0.00;FS=0.908;HRun=0;HaplotypeScore=4.4963;MQ=57.86;MQ0=0;MQRankSum=0.792;QD=14.23;ReadPosRankSum=0.352;VQSLOD=5.0727;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,50:99:99:1439,0,1177 7 47323456 47323456 A G exonic TNS3 synonymous SNV TNS3:NM_022748:exon28:c.T3936C:p.N1312N 0.7 0.74 0.78 0.63 0.68 0.69 0.6833 0.7397 0.7178 0.6438 0.7038 0.6700 0.6959 0.6918 0.7 0.75 0.67 0.74 0.61 rs3750164 COSM4162251 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6853 0.7436 0.7269 0.8177 0.6370 0.6914 0.6613 0.7004 0.6803 0.6869 0.7490 0.7404 0.8046 0.6385 0.6977 0.6492 0.6690 hom 4664.29 159 7 47323456 . A G 4664.29 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0386;MQ=59.33;MQ0=0;QD=29.34;VQSLOD=7.9230;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:159:99:4628,373,0 7 47408029 47408029 A G exonic TNS3 synonymous SNV TNS3:NM_022748:exon17:c.T2214C:p.G738G 0.63 0.56 0.69 0.46 0.83 0.65 0.7417 0.6004 0.6756 0.4643 0.7645 0.8177 0.7123 0.6908 0.76 0.62 0.83 0.6 0.75 rs2255744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7435 0.6032 0.6958 0.7334 0.4747 0.7780 0.8243 0.7730 0.6938 0.7264 0.6066 0.7218 0.6887 0.4869 0.7663 0.8115 0.7598 het 2363.62 164 7 47408029 . A G 2363.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.849;DP=164;DS;Dels=0.00;FS=2.046;HRun=0;HaplotypeScore=3.8298;MQ=59.72;MQ0=0;MQRankSum=0.822;QD=14.41;ReadPosRankSum=-0.360;VQSLOD=5.7151;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,85:164:99:2394,0,2063 7 47408974 47408974 T A exonic TNS3 synonymous SNV TNS3:NM_022748:exon17:c.A1269T:p.A423A 0.64 0.58 0.69 0.46 0.83 0.65 0.7375 0.6163 0.6745 0.4607 0.7645 0.8151 0.7022 0.6748 0.76 0.62 0.83 0.64 0.78 rs1534136 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7367 0.6189 0.6853 0.7099 0.4668 0.7751 0.8199 0.7609 0.6773 0.7308 0.6220 0.7267 0.6887 0.4851 0.7665 0.8112 0.7622 het 2335.28 211 7 47408974 . T A 2335.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.321;DP=211;Dels=0.00;FS=16.771;HRun=0;HaplotypeScore=1.9958;MQ=59.33;MQ0=0;MQRankSum=2.105;QD=11.07;ReadPosRankSum=-1.211;VQSLOD=2.6346;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,88:211:99:2365,0,3369 7 47436497 47436497 G A exonic TNS3 synonymous SNV TNS3:NM_022748:exon16:c.C924T:p.S308S 0.11 0.034 0.15 0.076 0.16 0.17 0.1438 0.0403 0.1924 0.0853 0.2145 0.1539 0.1444 0.1324 0.12 0.046 0.16 0.043 0.13 rs17544028 COSM3762691 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1486 0.0413 0.1852 0.1637 0.0861 0.2228 0.1503 0.1515 0.1318 0.1223 0.0451 0.1847 0.1722 0.0988 0.2221 0.1403 0.1477 het 2670.04 185 7 47436497 . G A 2670.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.961;DP=185;DS;Dels=0.00;FS=0.761;HRun=0;HaplotypeScore=9.3611;MQ=59.32;MQ0=0;MQRankSum=1.080;QD=14.43;ReadPosRankSum=0.457;VQSLOD=4.4091;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,89:185:99:2700,0,2780 7 47698685 47698685 A G exonic C7orf65 synonymous SNV C7orf65:NM_001123065:exon3:c.A315G:p.G105G 0.16 0.026 0.26 0.19 0.23 0.17 0.2304 0.0624 0.3263 0.2045 0.2698 0.2500 0.2111 0.1823 0.19 0.071 0.25 0.12 0.26 rs12531737 COSN168045 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2343 0.0576 0.3262 0.2213 0.1977 0.2745 0.2445 0.2382 0.1794 0.1968 0.0601 0.2859 0.2219 0.1869 0.2753 0.2483 0.2760 het 2019.07 155 7 47698685 . A G 2019.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.499;DP=155;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.8428;MQ=59.17;MQ0=0;MQRankSum=1.716;QD=13.03;ReadPosRankSum=1.126;VQSLOD=4.4400;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,77:155:99:2049,0,1863 7 47840310 47840310 C G exonic PKD1L1 nonsynonymous SNV PKD1L1:NM_138295:exon54:c.G8130C:p.Q2710H 0.026 . 0.06 . 0.016 0.074 0.0291 0.0038 0.0618 0.0007 0.0076 0.0230 0.0288 0.0703 0.015 0.0043 0.021 . 0.016 rs146576726 . . . . . . . . . . . . . 0.559 0.064 T 0.002 0.090 B 0.004 0.093 B 0.000 0.005 N 1 0.090 N 0.205 0.094 N 2.13 0.196 T -0.2 0.102 N 0.09 0.088 -1.031 0.202 T 0.007 0.026 T . . . -0.509 0.055 0.209 0.343 0.021 0.014 0.048 N c -1.210 -1.186 1.000 0.407 0.497 0.185 0 0.508 0.161 -0.307 0.081 -1.192 0.016 0.000 0.063 0.000 0.016 1.006 0.014 . . . 0.0299 0.0034 0.0566 0.0603 0.0004 0.0071 0.0209 0.0288 0.0701 0.0153 0.0047 0.0406 0.0662 0.0006 0.0086 0.0221 0.0163 het 1380.36 101 7 47840310 . C G 1380.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.858;DP=101;Dels=0.00;FS=1.651;HRun=1;HaplotypeScore=3.6267;MQ=60.00;MQ0=0;MQRankSum=0.754;QD=13.67;ReadPosRankSum=0.078;VQSLOD=4.2590;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,55:101:99:1410,0,1194 7 47913579 47913579 T C exonic PKD1L1 nonsynonymous SNV PKD1L1:NM_138295:exon24:c.A3814G:p.K1272E 0.92 0.98 0.91 0.97 0.83 0.87 0.8688 0.9664 0.9228 0.9813 0.8462 0.8325 0.8709 0.8662 0.87 0.96 0.83 0.59 0.77 rs1470859 . . . . . . . . . . . . . 0.29 0.150 T 0.0 0.026 B 0.0 0.013 B 0.007 0.011 N 1 0.090 P 0 0.065 N -0.56 0.712 T 0.09 0.059 N 0.034 0.014 -0.973 0.365 T 0.000 0.000 T . . . -2.720 0.002 0.001 0.404 0.028 0.003 0.015 N c -2.123 -2.196 1.000 0.747 0.560 0.301 0 -9.08 0.006 -1.966 0.016 -3.965 0.000 0.000 0.063 0.002 0.062 4.848 0.128 PKD/REJ-like domain|REJ domain . . 0.8677 0.9678 0.9122 0.8654 0.9841 0.8493 0.8273 0.8607 0.8656 0.8785 0.9616 0.8878 0.9133 0.9889 0.8581 0.8244 0.8381 hom 3135.68 111 7 47913579 . T C 3135.68 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7297;MQ=58.44;MQ0=0;QD=28.25;VQSLOD=7.8398;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3169,262,0 7 47968927 47968927 C A exonic PKD1L1 nonsynonymous SNV PKD1L1:NM_138295:exon7:c.G934T:p.V312F 0.48 0.51 0.51 0.51 0.51 0.38 0.4885 0.4950 0.5092 0.5414 0.5705 0.4971 0.4593 0.3760 0.49 0.5 0.49 0.58 0.45 rs2686817 COSM3762699 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.994 0.807 D 0.000 0.006 N 1 0.090 P 1.845 0.488 L 0.98 0.421 T -2.97 0.618 D 0.19 0.232 -0.943 0.422 T 0.000 0.000 T . . . 3.861 0.521 23.5 0.994 0.607 0.069 0.128 N c -0.305 -0.516 1.000 0.747 0.615 0.372 0 2.03 0.256 0.454 0.214 0.892 0.403 0.000 0.063 0.004 0.083 5.420 0.156 . ENSG00000183696.9|ENSG00000183696.9|ENSG00000158683.3|ENSG00000158683.3|ENSG00000225507.1 Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.4911 0.4938 0.5216 0.4420 0.5384 0.5678 0.4947 0.4668 0.3809 0.5203 0.4914 0.4700 0.3907 0.5505 0.5730 0.5277 0.5092 het 3104.64 249 7 47968927 . C A 3104.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.143;DP=249;DS;Dels=0.00;FS=0.468;HRun=2;HaplotypeScore=5.1262;MQ=58.50;MQ0=0;MQRankSum=-1.568;QD=12.47;ReadPosRankSum=0.290;VQSLOD=4.5955;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:136,113:249:99:3135,0,3735 7 47971575 47971575 A G exonic PKD1L1 synonymous SNV PKD1L1:NM_138295:exon5:c.T477C:p.C159C 0.48 0.46 0.52 0.51 0.52 0.39 0.4977 0.4613 0.5248 0.5474 0.5757 0.5120 0.4780 0.3878 0.49 0.47 0.51 0.53 0.43 rs885337 COSM4162258 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5004 0.4608 0.5350 0.4534 0.5406 0.5741 0.5097 0.4795 0.3914 0.5209 0.4624 0.4905 0.4067 0.5514 0.5778 0.5425 0.5163 het 1868.76 141 7 47971575 . A G 1868.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.109;DP=141;Dels=0.00;FS=12.608;HRun=0;HaplotypeScore=4.4747;MQ=59.74;MQ0=0;MQRankSum=-0.636;QD=13.25;ReadPosRankSum=0.511;VQSLOD=3.3940;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,73:141:99:1899,0,1801 7 47971626 47971626 G A exonic PKD1L1 synonymous SNV PKD1L1:NM_138295:exon5:c.C426T:p.I142I 0.15 0.13 0.14 0.25 0.068 0.15 0.1292 0.1435 0.1648 0.2115 0.0952 0.1053 0.1104 0.1634 0.11 0.14 0.097 0.11 0.11 rs885338 COSM4004489 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1272 0.1415 0.1530 0.1098 0.2193 0.1002 0.1021 0.1192 0.1586 0.1206 0.1417 0.1718 0.1490 0.2206 0.1079 0.0986 0.0980 het 1565.25 135 7 47971626 . G A 1565.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.173;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9882;MQ=60.00;MQ0=0;MQRankSum=0.472;QD=11.59;ReadPosRankSum=-1.543;VQSLOD=5.6920;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,60:135:99:1595,0,1918 7 48004962 48004962 C T exonic HUS1 synonymous SNV HUS1:NM_004507:exon8:c.G834A:p.A278A 0.42 0.28 0.49 0.51 0.52 0.38 0.4840 0.3144 0.5213 0.5499 0.5841 0.5124 0.4791 0.3758 0.44 0.32 0.51 0.48 0.43 rs1056663 COSM3762702 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4920 0.3113 0.5245 0.4543 0.5502 0.5863 0.5131 0.4845 0.3821 0.4797 0.3069 0.4785 0.4205 0.5627 0.5856 0.5456 0.5163 het 2468.77 224 7 48004962 . C T 2468.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.398;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9789;MQ=59.18;MQ0=0;MQRankSum=1.429;QD=11.02;ReadPosRankSum=1.942;VQSLOD=4.7315;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,98:224:99:2499,0,3203 7 48081095 48081095 G T exonic C7orf57 nonsynonymous SNV C7orf57:NM_001100159:exon3:c.G220T:p.A74S 0.36 0.24 0.36 0.33 0.45 0.45 0.4035 0.2588 0.3493 0.3120 0.3702 0.4279 0.4489 0.4889 0.37 0.23 0.43 0.38 . rs10951942 COSM4004493;COSM4004492 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.047 0.477 D 0.989 0.609 D 0.962 0.690 D 0.000 0.843 D 0.000 0.810 P 2.71 0.795 M 0.93 0.441 T -2.4 0.527 N 0.502 0.547 -0.977 0.358 T 0.000 0.000 T . . . 5.010 0.674 25.1 0.997 0.811 0.925 0.556 D c 0.600 0.512 1.000 0.747 0.497 0.185 0 5.69 0.883 4.947 0.631 1.045 0.669 1.000 0.715 0.011 0.114 17.297 0.870 . ENSG00000146666.4|ENSG00000158683.3|ENSG00000183696.9|ENSG00000164746.9|ENSG00000183696.9|ENSG00000225507.1 Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Thyroid 0.3896 0.2393 0.3356 0.4434 0.2943 0.3543 0.4215 0.4309 0.4636 0.3399 0.2449 0.3759 0.4470 0.2769 0.3426 0.3932 0.4010 het 458.68 36 7 48081095 . G T 458.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.907;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.96;MQ0=0;MQRankSum=0.493;QD=12.74;ReadPosRankSum=1.003;VQSLOD=6.5968;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,20:36:99:489,0,395 7 48086077 48086077 C T exonic C7orf57 nonsynonymous SNV C7orf57:NM_001267865:exon4:c.C5T:p.P2L,C7orf57:NM_001267866:exon4:c.C5T:p.P2L,C7orf57:NM_001100159:exon5:c.C371T:p.P124L 0.82 0.77 0.86 0.74 0.95 0.81 0.8717 0.7476 0.8451 0.7426 0.9244 0.9197 0.8809 0.8146 0.87 0.77 0.93 0.83 . rs2708912 COSM3762706;COSM3762705 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.075 0.348 T 0.858 0.453 P 0.275 0.383 B 0.000 0.629 D 0.000 0.588 P 2.74 0.803 M 0.97 0.425 T -8.4 0.987 D 0.418 0.707 -1.059 0.119 T 0.000 0.000 T . . . 5.336 0.722 25.8 0.999 0.949 0.668 0.330 D c 0.511 0.538 1.000 0.747 0.554 0.283 0 5.34 0.759 4.914 0.628 0.935 0.490 0.998 0.411 0.988 0.529 16.886 0.859 . ENSG00000183696.9 Nerve_Tibial 0.8725 0.7440 0.8528 0.8450 0.7290 0.9173 0.9248 0.8879 0.8216 0.8605 0.7454 0.8508 0.8278 0.7340 0.9159 0.9264 0.9022 het 942.81 89 7 48086077 . C T 942.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.803;DP=89;Dels=0.00;FS=1.775;HRun=0;HaplotypeScore=3.6592;MQ=59.58;MQ0=0;MQRankSum=0.361;QD=10.59;ReadPosRankSum=1.016;VQSLOD=6.1080;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,38:89:99:973,0,1267 7 48086161 48086161 T C exonic C7orf57 nonsynonymous SNV C7orf57:NM_001267865:exon4:c.T89C:p.M30T,C7orf57:NM_001267866:exon4:c.T89C:p.M30T,C7orf57:NM_001100159:exon5:c.T455C:p.M152T 0.82 0.77 0.86 0.74 0.95 0.81 0.8722 0.7477 0.8462 0.7451 0.9237 0.9199 0.8803 0.8162 0.88 0.76 0.93 0.83 . rs10233232 COSM4004494;COSM4004495 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.676 0.147 T 0.763 0.417 P 0.173 0.338 B 0.033 0.249 N 0.992 0.239 P 1.89 0.503 L 0.93 0.441 T -0.61 0.605 N 0.091 0.223 -0.902 0.478 T 0.000 0.000 T . . . 0.833 0.173 9.664 0.921 0.209 0.386 0.258 N c -0.204 -0.077 0.994 0.334 0.447 0.083 0 4.27 0.498 0.690 0.249 0.088 0.194 0.989 0.365 0.880 0.369 6.275 0.201 . ENSG00000183696.9 Nerve_Tibial 0.8725 0.7438 0.8530 0.8453 0.7292 0.9174 0.9248 0.8870 0.8220 0.8603 0.7452 0.8508 0.8278 0.7346 0.9161 0.9262 0.9020 het 880.56 78 7 48086161 . T C 880.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.832;DP=78;Dels=0.00;FS=0.903;HRun=0;HaplotypeScore=0.8667;MQ=59.52;MQ0=0;MQRankSum=1.047;QD=11.29;ReadPosRankSum=0.657;VQSLOD=6.6970;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,36:78:99:911,0,1201 7 48089542 48089542 T C exonic C7orf57 synonymous SNV C7orf57:NM_001267865:exon5:c.T207C:p.N69N,C7orf57:NM_001267866:exon5:c.T207C:p.N69N,C7orf57:NM_001100159:exon6:c.T573C:p.N191N 0.83 0.79 0.86 0.75 0.95 0.8 0.8729 0.7675 0.8450 0.7421 0.9242 0.9206 0.8828 0.8091 0.88 0.78 0.93 0.83 . rs2686788 COSM4004497;COSM4004496 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8737 0.7652 0.8530 0.8476 0.7287 0.9175 0.9256 0.8894 0.8166 0.8682 0.7712 0.8496 0.8389 0.7354 0.9161 0.9269 0.9022 het 975.51 79 7 48089542 . T C 975.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.108;DP=79;Dels=0.00;FS=3.036;HRun=2;HaplotypeScore=3.9606;MQ=59.42;MQ0=0;MQRankSum=-0.680;QD=12.35;ReadPosRankSum=-0.590;VQSLOD=5.3843;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,40:79:99:1006,0,920 7 48089571 48089571 C A exonic C7orf57 nonsynonymous SNV C7orf57:NM_001267865:exon5:c.C236A:p.P79H,C7orf57:NM_001267866:exon5:c.C236A:p.P79H,C7orf57:NM_001100159:exon6:c.C602A:p.P201H 0.82 0.78 0.86 0.75 0.95 0.8 0.8707 0.7519 0.8418 0.7389 0.9236 0.9199 0.8837 0.8081 0.88 0.77 0.93 0.83 . rs2708890 COSM4004498;COSM4004499 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.095 0.334 T 1.0 0.899 D 0.976 0.719 D 0.000 0.486 D 1e-37 0.810 P 2.685 0.788 M 0.48 0.560 T -4.29 0.946 D 0.194 0.335 -1.081 0.071 T 0.000 0.000 T . . . 2.941 0.414 22.0 0.994 0.648 0.807 0.400 D c 0.081 0.025 0.999 0.379 0.554 0.283 0 4.54 0.551 3.931 0.560 0.935 0.490 0.968 0.339 0.167 0.209 10.134 0.417 . ENSG00000183696.9 Nerve_Tibial 0.8722 0.7500 0.8516 0.8427 0.7280 0.9175 0.9254 0.8877 0.8162 0.8631 0.7539 0.8496 0.8278 0.7358 0.9158 0.9267 0.9022 het 652.81 54 7 48089571 . C A 652.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.619;DP=54;Dels=0.00;FS=1.128;HRun=0;HaplotypeScore=1.8606;MQ=60.00;MQ0=0;MQRankSum=-0.432;QD=12.09;ReadPosRankSum=1.470;VQSLOD=6.1742;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,27:54:99:683,0,709 7 48092486 48092486 T C exonic C7orf57 synonymous SNV C7orf57:NM_001267865:exon6:c.T381C:p.D127D,C7orf57:NM_001267866:exon6:c.T381C:p.D127D,C7orf57:NM_001100159:exon7:c.T795C:p.D265D 0.83 0.78 0.86 0.75 0.95 0.81 0.8736 0.7597 0.8454 0.7441 0.9242 0.9209 0.8837 0.8162 0.88 0.78 0.93 0.84 . rs2686791 COSM4004500;COSM4004501 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8740 0.7572 0.8525 0.8487 0.7281 0.9176 0.9257 0.8896 0.8232 0.8655 0.7627 0.8496 0.8311 0.7342 0.9158 0.9267 0.9031 het 303.28 43 7 48092486 . T C 303.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.210;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=-0.777;QD=7.05;ReadPosRankSum=0.395;VQSLOD=5.5968;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,15:43:99:333,0,756 7 48285485 48285485 C T exonic ABCA13 nonsynonymous SNV ABCA13:NM_152701:exon13:c.C1517T:p.P506L 0.41 0.16 0.44 0.62 0.41 0.5 0.4441 0.1899 0.4635 0.5796 0.5547 0.4413 0.4358 0.4787 0.35 0.18 0.43 0.34 . rs1880738 COSM453164;COSM453163 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.436 0.094 T 0.0 0.026 B 0.0 0.013 B 0.943 0.076 N 1 0.090 P 0.125 0.086 N -1.48 0.812 T -0.5 0.158 N 0.041 0.021 -0.951 0.408 T 0.000 0.000 T . . . 0.337 0.127 6.050 0.422 0.031 0.004 0.021 N c -1.408 -1.412 1.000 0.415 0.487 0.133 0 -2.68 0.057 0.170 0.164 -1.280 0.014 0.000 0.063 0.000 0.016 0.685 0.008 . . . 0.4493 0.1880 0.4570 0.4098 0.5758 0.5534 0.4393 0.4324 0.4766 0.3970 0.1895 0.4761 0.4570 0.5999 0.5650 0.4454 0.4857 het 810.56 56 7 48285485 . C T 810.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.665;DP=56;Dels=0.00;FS=1.053;HRun=0;HaplotypeScore=3.7256;MQ=59.00;MQ0=0;MQRankSum=-0.183;QD=14.47;ReadPosRankSum=-0.133;VQSLOD=6.2024;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,33:56:99:841,0,592 7 48287840 48287840 G A exonic ABCA13 nonsynonymous SNV ABCA13:NM_152701:exon14:c.G1664A:p.R555H 0.2 0.3 0.19 0.15 0.11 0.2 0.1537 0.2823 0.1893 0.1778 0.1410 0.1192 0.1350 0.1844 0.16 0.27 0.11 0.27 . rs2361519 COSM4004505;COSM4004504 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.001 0.040 B 0.164 0.031 N 1 0.090 P -0.38 0.030 N -2.35 0.881 D 1.0 0.014 N 0.052 0.034 -0.916 0.461 T 0.000 0.000 T . . . -0.995 0.032 0.016 0.567 0.055 0.002 0.013 N c -1.914 -1.946 0.999 0.379 0.487 0.133 0 -8.57 0.008 -1.093 0.034 -0.641 0.041 0.002 0.151 0.501 0.271 15.131 0.721 . . . 0.1457 0.2787 0.1818 0.1065 0.1692 0.1384 0.1112 0.1299 0.1728 0.1766 0.2888 0.1563 0.0894 0.1603 0.1358 0.1282 0.1385 het 274.82 22 7 48287840 . G A 274.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.802;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=0.824;QD=12.49;ReadPosRankSum=-0.495;VQSLOD=6.1962;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,10:22:99:305,0,297 7 48312674 48312674 G A exonic ABCA13 synonymous SNV ABCA13:NM_152701:exon17:c.G3411A:p.V1137V 0.58 0.55 0.51 0.77 0.46 0.57 0.5356 0.5251 0.5588 0.7638 0.5865 0.4984 0.5345 0.5361 0.49 0.5 0.49 0.54 . rs1358066 COSM150288;COSM150289 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5382 0.5263 0.5514 0.4791 0.7651 0.5860 0.4977 0.5152 0.5374 0.5358 0.5246 0.5706 0.5497 0.7812 0.5919 0.4991 0.5575 het 882.74 60 7 48312674 . G A 882.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.722;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.20;MQ0=0;MQRankSum=-0.694;QD=14.71;ReadPosRankSum=-0.276;VQSLOD=6.4016;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,34:60:99:913,0,674 7 48313949 48313949 C T exonic ABCA13 synonymous SNV ABCA13:NM_152701:exon17:c.C4686T:p.Y1562Y 0.13 0.052 0.17 0.15 0.11 0.19 0.1287 0.0641 0.1711 0.1722 0.1387 0.1138 0.1119 0.1703 0.094 0.061 0.11 0.15 . rs6583483 COSM3762714;COSM3762713 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1282 0.0596 0.1702 0.1012 0.1693 0.1386 0.1097 0.1179 0.1632 0.1123 0.0660 0.1415 0.0828 0.1611 0.1361 0.1264 0.1273 het 900.86 80 7 48313949 . C T 900.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.404;DP=80;Dels=0.00;FS=0.861;HRun=3;HaplotypeScore=0.9159;MQ=58.66;MQ0=0;MQRankSum=0.824;QD=11.26;ReadPosRankSum=0.698;VQSLOD=6.0275;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,35:80:99:931,0,1258 7 48314279 48314279 G A exonic ABCA13 synonymous SNV ABCA13:NM_152701:exon17:c.G5016A:p.K1672K 0.19 0.15 0.27 0.22 0.13 0.24 0.1713 0.1620 0.2529 0.2248 0.1545 0.1419 0.1456 0.2187 0.15 0.15 0.14 0.23 . rs6955212 COSM3762715;COSM3762716 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1733 0.1642 0.2556 0.1560 0.2243 0.1543 0.1374 0.1547 0.2122 0.1634 0.1739 0.2141 0.1126 0.2098 0.1500 0.1537 0.1633 het 1803.54 159 7 48314279 . G A 1803.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.689;DP=159;Dels=0.00;FS=9.864;HRun=2;HaplotypeScore=4.3683;MQ=59.44;MQ0=0;MQRankSum=0.762;QD=11.34;ReadPosRankSum=-0.138;VQSLOD=4.6945;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,67:159:99:1834,0,2493 7 48315796 48315796 C A exonic ABCA13 nonsynonymous SNV ABCA13:NM_152701:exon17:c.C6533A:p.A2178E 0.81 0.85 0.8 0.99 0.61 0.81 0.7330 0.8209 0.8263 0.9863 0.7420 0.6605 0.7344 0.7559 0.7 0.81 0.64 0.81 . rs1880736 COSM5001978;COSM5001977 1(bone);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.015 0.283 N 1 0.090 P -1.04 0.011 N 3.62 0.044 T 1.67 0.006 N 0.026 0.008 -0.982 0.346 T 0.000 0.000 T . . . -0.071 0.087 1.958 0.265 0.013 0.006 0.027 N c -1.109 -0.921 0.001 0.081 0.487 0.133 0 4.99 0.658 1.146 0.310 0.200 0.252 0.978 0.348 0.148 0.204 10.352 0.429 . ENSG00000179869.10 Esophagus_Mucosa 0.7235 0.8236 0.8167 0.6415 0.9892 0.7405 0.6347 0.6783 0.7502 0.7407 0.8275 0.8043 0.6812 0.9913 0.7497 0.6590 0.7351 hom 330.34 12 7 48315796 . C A 330.34 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=27.53;VQSLOD=7.8650;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:27.09:363,27,0 7 48336844 48336844 C T exonic ABCA13 synonymous SNV ABCA13:NM_152701:exon22:c.C9135T:p.L3045L 0.77 0.7 0.78 0.99 0.59 0.81 0.7253 0.7039 0.8241 0.9883 0.7367 0.6641 0.7103 0.7635 0.65 0.68 0.63 0.78 . rs6583546 COSM5420307;COSM5420306 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7088 0.6908 0.8094 0.6432 0.9897 0.7209 0.6302 0.6643 0.7488 0.6962 0.7007 0.7936 0.6755 0.9914 0.7258 0.6488 0.7108 hom 724.15 25 7 48336844 . C T 724.15 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.97;VQSLOD=13.1937;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:60.18:757,60,0 7 48349647 48349647 C T exonic ABCA13 nonsynonymous SNV ABCA13:NM_152701:exon24:c.C9425T:p.A3142V 0.11 0.041 0.15 0.1 0.12 0.17 0.1298 0.0553 0.1395 0.1071 0.1199 0.1387 0.1256 0.1471 0.11 0.051 0.14 0.098 . rs3931814 COSM3762720;COSM3762719 1(large_intestine) . . . . . . . . . . . 0.918 0.023 T 0.001 0.067 B 0.001 0.040 B 0.284 0.038 N 1 0.090 P -0.6 0.022 N -1.97 0.852 D 0.62 0.024 N 0.056 0.039 -1.041 0.171 T 0.003 0.009 T . . . -0.487 0.056 0.237 0.904 0.191 0.015 0.050 N c -1.499 -1.530 0.486 0.208 0.487 0.133 0 -5.73 0.022 -0.854 0.044 -0.327 0.075 0.000 0.063 0.000 0.016 16.260 0.823 . . . 0.1333 0.0563 0.1423 0.1691 0.1048 0.1218 0.1415 0.1309 0.1454 0.1125 0.0605 0.1551 0.1987 0.0907 0.1276 0.1374 0.1143 het 2761.55 250 7 48349647 . C T 2761.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.051;DP=250;DS;Dels=0.00;FS=5.594;HRun=0;HaplotypeScore=7.8327;MQ=59.37;MQ0=0;MQRankSum=2.143;QD=11.05;ReadPosRankSum=-1.067;VQSLOD=3.8689;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:2792,0,3800 7 48450157 48450157 T C exonic ABCA13 synonymous SNV ABCA13:NM_152701:exon40:c.T12111C:p.A4037A 0.46 0.46 0.52 0.58 0.47 0.3 0.4734 0.4848 0.5549 0.6267 0.5366 0.4740 0.4644 0.3020 0.47 0.46 0.47 0.49 . rs17548783 COSM3982229;COSM3982230 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4772 0.4839 0.5517 0.3303 0.6276 0.5414 0.4797 0.4622 0.3025 0.5097 0.4833 0.5346 0.3477 0.5953 0.5384 0.5107 0.5133 het 4169.22 243 7 48450157 . T C 4169.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.590;DP=243;DS;Dels=0.00;FS=0.488;HRun=1;HaplotypeScore=4.6998;MQ=59.22;MQ0=0;MQRankSum=1.744;QD=17.16;ReadPosRankSum=0.555;VQSLOD=5.0447;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:110,132:243:99:3554,0,2952 7 48506566 48506566 A G exonic ABCA13 nonsynonymous SNV ABCA13:NM_152701:exon44:c.A12829G:p.N4277D 0.23 0.35 0.26 0.22 0.15 0.14 0.1703 0.3200 0.2837 0.2456 0.1572 0.1290 0.1678 0.1350 0.18 0.29 0.12 0.17 . rs4917152 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.727 0.099 N 1 0.090 P -1.32 0.007 N -1.93 0.849 D 0.19 0.050 N 0.001 0.146 -1.087 0.060 T 0.000 0.000 T . . . -1.554 0.016 0.002 0.162 0.004 0.000 0.002 N c -1.742 -1.618 0.000 0.029 0.487 0.133 0 1.49 0.219 1.363 0.335 -0.232 0.094 0.003 0.159 0.000 0.016 8.133 0.300 . . . 0.1726 0.3145 0.2838 0.1417 0.2392 0.1638 0.1249 0.1639 0.1347 0.1876 0.3011 0.2434 0.1689 0.2243 0.1761 0.1191 0.1673 het 2274.71 216 7 48506566 . A G 2274.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.413;DP=216;Dels=0.00;FS=1.830;HRun=0;HaplotypeScore=8.2883;MQ=59.72;MQ0=0;MQRankSum=-0.701;QD=10.53;ReadPosRankSum=-0.313;VQSLOD=4.1304;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,102:216:99:2305,0,3062 7 48506642 48506642 A G exonic ABCA13 nonsynonymous SNV ABCA13:NM_152701:exon44:c.A12905G:p.Q4302R 0.23 0.35 0.26 0.22 0.15 0.14 0.1703 0.3199 0.2833 0.2459 0.1572 0.1290 0.1678 0.1350 0.17 0.29 0.12 0.21 . rs4917153 . . . . . . . . . . . . . 0.64 0.050 T 0.0 0.026 B 0.001 0.040 B 0.049 0.020 N 1.000 0.494 P -1.15 0.009 N -1.96 0.851 D -0.32 0.123 N 0.043 0.304 -1.082 0.070 T 0.000 0.000 T . . . -1.531 0.016 0.002 0.423 0.031 0.011 0.039 N c -1.526 -1.536 0.000 0.070 0.487 0.133 0 -4.24 0.035 -1.457 0.025 -1.489 0.010 0.000 0.063 0.007 0.100 4.495 0.112 . . . 0.1726 0.3143 0.2836 0.1417 0.2392 0.1638 0.1249 0.1637 0.1346 0.1879 0.3017 0.2434 0.1689 0.2250 0.1761 0.1192 0.1663 het 2381.17 199 7 48506642 . A G 2381.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.315;DP=199;DS;Dels=0.00;FS=1.241;HRun=1;HaplotypeScore=1.6553;MQ=59.36;MQ0=0;MQRankSum=0.821;QD=11.97;ReadPosRankSum=-1.464;VQSLOD=6.5202;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,95:199:99:2411,0,2828 7 48528923 48528923 G C exonic ABCA13 nonsynonymous SNV ABCA13:NM_152701:exon48:c.G13273C:p.V4425L 0.058 0.12 0.037 . 0.054 0.05 0.0559 0.1205 0.0268 0.0001 0.0464 0.0594 0.0634 0.0563 0.07 0.1 0.057 0.13 . rs73694648 COSM3762724;COSM3762723 1(large_intestine) . . . . . . . . . . . 0.183 0.217 T 0.0 0.067 B 0.002 0.093 B 0.451 0.125 N 1 0.090 N 1.845 0.488 L -1.98 0.866 D -0.58 0.232 N 0.087 0.132 -0.996 0.312 T 0.023 0.099 T . . . 1.435 0.235 12.97 0.932 0.222 0.102 0.156 N c -0.755 -0.715 0.000 0.057 0.487 0.133 0 3.64 0.407 1.519 0.353 0.120 0.210 0.008 0.178 0.753 0.322 8.446 0.318 . . . 0.0498 0.1106 0.0284 0.0302 0.0002 0.0425 0.0586 0.0447 0.0514 0.0644 0.1091 0.0346 0.0166 0 0.0430 0.0540 0.0491 het 407.22 39 7 48528923 . G C 407.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.532;DP=39;Dels=0.00;FS=1.378;HRun=0;HaplotypeScore=4.9999;MQ=58.20;MQ0=0;MQRankSum=-1.018;QD=10.44;ReadPosRankSum=1.048;VQSLOD=4.2562;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,19:39:99:437,0,498 7 48545976 48545976 A G exonic ABCA13 nonsynonymous SNV ABCA13:NM_152701:exon49:c.A13336G:p.K4446E 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs6583448 COSM4590406;COSM4590405 1(NS);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 6036.05 203 7 48545976 . A G 6036.05 Mask AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;QD=29.73;VQSLOD=8.8249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6035,472,0 7 50611735 50611735 T C exonic DDC nonsynonymous SNV DDC:NM_000790:exon2:c.A49G:p.M17V,DDC:NM_001082971:exon2:c.A49G:p.M17V,DDC:NM_001242886:exon2:c.A49G:p.M17V,DDC:NM_001242887:exon2:c.A49G:p.M17V,DDC:NM_001242888:exon2:c.A49G:p.M17V,DDC:NM_001242889:exon2:c.A49G:p.M17V,DDC:NM_001242890:exon2:c.A49G:p.M17V 0.99 0.98 1. 1. 1. 1. 0.9982 0.9801 0.9991 0.9999 1 1.0000 1 0.9999 0.99 0.98 1. 0.99 1. rs6264 . . . . . . . . . . . . . 0.331 0.137 T 0.0 0.026 B 0.0 0.013 B 0.006 0.327 N 1.000 0.220 P -2 0.002 N 1.31 0.354 T 2.03 0.005 N 0.149 0.488 -0.977 0.357 T 0.000 0.000 T . . . -0.411 0.061 0.363 0.787 0.120 0.045 0.100 N c -1.371 -1.185 0.316 0.193 0.487 0.133 0 0.418 0.156 -0.398 0.073 -0.302 0.080 0.000 0.063 0.226 0.223 10.978 0.465 Pyridoxal phosphate-dependent transferase . . 0.9986 0.9805 0.9990 0.9999 0.9998 1.0000 1.0000 0.9996 1.0000 0.9946 0.9809 0.9988 1 1 1 1 1 hom 7776.87 250 7 50611735 . T C 7776.87 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6421;MQ=59.35;MQ0=0;QD=31.11;VQSLOD=9.4350;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7775,665,0 7 50673029 50673029 T C exonic GRB10 synonymous SNV GRB10:NM_001001549:exon11:c.A1209G:p.A403A,GRB10:NM_001001550:exon12:c.A1173G:p.A391A,GRB10:NM_001350815:exon12:c.A1461G:p.A487A,GRB10:NM_001001555:exon13:c.A1173G:p.A391A,GRB10:NM_001350816:exon14:c.A1329G:p.A443A,GRB10:NM_001350814:exon15:c.A1347G:p.A449A 0.87 0.83 0.89 0.94 0.89 0.85 0.8800 0.8198 0.8654 0.9152 0.7512 0.9028 0.8656 0.8679 0.88 0.83 0.91 0.83 0.84 rs4947710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8795 0.8224 0.8745 0.9534 0.9219 0.7531 0.9031 0.8907 0.8696 0.8587 0.8261 0.8711 0.9172 0.9106 0.7573 0.8931 0.8717 hom 2774.15 87 7 50673029 . T C 2774.15 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4889;MQ=58.39;MQ0=0;QD=31.89;VQSLOD=9.1561;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2807,226,0 7 50742180 50742180 C T exonic GRB10 synonymous SNV GRB10:NM_001001549:exon3:c.G315A:p.P105P,GRB10:NM_001001550:exon3:c.G141A:p.P47P,GRB10:NM_001350815:exon3:c.G429A:p.P143P,GRB10:NM_001001555:exon4:c.G141A:p.P47P,GRB10:NM_001350816:exon5:c.G297A:p.P99P,GRB10:NM_001350814:exon6:c.G315A:p.P105P 0.53 0.66 0.53 0.4 0.53 0.49 0.5213 0.6659 0.4889 0.4200 0.4135 0.5440 0.4820 0.4644 0.6 0.67 0.56 0.54 0.58 rs1800504 COSM3762736;COSM3762737 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5169 0.6645 0.5020 0.5263 0.4185 0.4051 0.5480 0.5378 0.4624 0.5393 0.6589 0.4988 0.5067 0.4103 0.4111 0.5202 0.4795 hom 2255.22 70 7 50742180 . C T 2255.22 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3990;MQ=59.13;MQ0=0;QD=32.22;VQSLOD=10.0361;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2288,181,0 7 51093013 51093013 A T exonic COBL synonymous SNV COBL:NM_015198:exon12:c.T3561A:p.A1187A 0.89 0.96 0.89 0.72 0.94 0.91 0.9145 0.9507 0.9076 0.7171 0.9371 0.9364 0.9397 0.9030 0.94 0.96 0.94 0.89 0.88 rs2240087 COSM4162287;COSM453215 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9128 0.9492 0.9090 0.9427 0.7152 0.9380 0.9337 0.9308 0.9045 0.9171 0.9499 0.9077 0.9238 0.7258 0.9316 0.9151 0.9257 hom 1819.38 64 7 51093013 . A T 1819.38 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=28.43;VQSLOD=7.6454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1852,147,0 7 51096036 51096036 G C exonic COBL nonsynonymous SNV COBL:NM_001346442:exon10:c.C2757G:p.H919Q,COBL:NM_001346443:exon10:c.C2757G:p.H919Q,COBL:NM_015198:exon10:c.C2757G:p.H919Q,COBL:NM_001287436:exon11:c.C2928G:p.H976Q,COBL:NM_001346441:exon11:c.C2928G:p.H976Q 0.2 0.11 0.16 0.31 0.19 0.26 0.1821 0.1104 0.1577 0.2941 0.1236 0.1747 0.1799 0.2395 0.15 0.11 0.17 0.14 0.11 rs2240089 COSM3762740;COSM3762741 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.178 0.227 T 0.399 0.441 B 0.134 0.388 B 0.002 0.008 N 1 0.090 P 0.695 0.181 N 2.77 0.115 T -1.59 0.383 N 0.013 0.002 -0.938 0.430 T 0.000 0.000 T . . . -0.405 0.061 0.376 0.744 0.103 0.192 0.203 N c -0.754 -0.860 0.998 0.368 0.707 0.730 0 0.382 0.154 0.106 0.151 0.073 0.181 0.000 0.063 0.009 0.108 8.146 0.301 . . . 0.1823 0.1102 0.1617 0.2702 0.2971 0.1274 0.1678 0.1918 0.2388 0.1440 0.1103 0.1754 0.2450 0.2921 0.1205 0.1487 0.1527 het 1391.65 164 7 51096036 . G C 1391.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.392;DP=164;Dels=0.00;FS=3.884;HRun=0;HaplotypeScore=6.3103;MQ=59.43;MQ0=0;MQRankSum=1.704;QD=8.49;ReadPosRankSum=-0.578;VQSLOD=4.0192;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,60:164:99:1422,0,3007 7 51096974 51096974 C T exonic COBL nonsynonymous SNV COBL:NM_001346442:exon10:c.G1819A:p.V607I,COBL:NM_001346443:exon10:c.G1819A:p.V607I,COBL:NM_015198:exon10:c.G1819A:p.V607I,COBL:NM_001287436:exon11:c.G1990A:p.V664I,COBL:NM_001346441:exon11:c.G1990A:p.V664I 0.61 0.66 0.59 0.46 0.69 0.6 0.6270 0.6942 0.5150 0.4386 0.6085 0.6692 0.6488 0.5961 0.68 0.69 0.67 0.56 0.64 rs2240090 COSM4416665;COSM4416666 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.873 0.026 T 0.001 0.067 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P -0.145 0.044 N 1.94 0.227 T -0.16 0.095 N 0.045 0.084 -0.903 0.477 T 0.000 0.000 T . . . -2.599 0.003 0.001 0.549 0.051 0.002 0.010 N c -3.095 -3.158 1.0 0.983 0.732 0.924 0 -11.6 0.000 -3.730 0.004 -2.908 0.002 0.000 0.063 0.000 0.016 6.389 0.206 . . . 0.6197 0.6971 0.5303 0.7057 0.4467 0.6030 0.6661 0.6518 0.5875 0.6369 0.6897 0.5621 0.6755 0.4517 0.5884 0.6417 0.6237 hom 4435.67 131 7 51096974 . C T 4435.67 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6927;MQ=59.51;MQ0=0;QD=33.86;VQSLOD=9.2418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4435,358,0 7 51097063 51097063 T G exonic COBL nonsynonymous SNV COBL:NM_001346442:exon10:c.A1730C:p.D577A,COBL:NM_001346443:exon10:c.A1730C:p.D577A,COBL:NM_015198:exon10:c.A1730C:p.D577A,COBL:NM_001287436:exon11:c.A1901C:p.D634A,COBL:NM_001346441:exon11:c.A1901C:p.D634A 0.98 1. 0.95 1. 0.97 0.99 0.9656 0.9926 0.9552 0.9988 0.9390 0.9574 0.9732 0.9824 0.97 0.99 0.96 0.99 0.95 rs10230120 COSM4162291;COSM4162290 1(bone);1(thyroid) . . . . . . . . . . . 0.515 0.074 T 0.0 0.026 B 0.0 0.013 B 0.302 0.146 N 1 0.090 P -0.755 0.017 N 2.12 0.197 T 1.97 0.006 N 0.024 0.204 -0.978 0.356 T 0.000 0.000 T . . . 0.123 0.106 3.858 0.157 0.004 0.000 0.004 N c -0.796 -0.785 1.000 0.500 0.732 0.924 0 3.95 0.448 0.323 0.192 0.136 0.221 0.000 0.063 0.000 0.016 12.052 0.526 . . . 0.9643 0.9925 0.9589 0.9872 0.9988 0.9381 0.9551 0.9645 0.9820 0.9583 0.9925 0.9618 0.9834 0.9975 0.9396 0.9385 0.9481 hom 1887.25 56 7 51097063 . T G 1887.25 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=33.70;VQSLOD=10.0510;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1920,156,0 7 51098568 51098570 TCT - exonic COBL nonframeshift deletion COBL:NM_001346442:exon9:c.1443_1445del:p.E481del,COBL:NM_001346443:exon9:c.1443_1445del:p.E481del,COBL:NM_015198:exon9:c.1443_1445del:p.E481del,COBL:NM_001287436:exon10:c.1614_1616del:p.E538del,COBL:NM_001346441:exon10:c.1614_1616del:p.E538del . . . . . . 0.3732 0.4251 0.4861 0.4497 0.3827 0.3138 0.3877 0.4571 0.34 0.43 0.3 . . rs58682836 COSM5713138;COSM5713139 1(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3739 0.4264 0.4681 0.3879 0.4480 0.3940 0.3005 0.3523 0.4558 0.3539 0.4151 0.4243 0.3567 0.4374 0.3861 0.2960 0.3827 het 3370.69 170 7 51098567 . GTCT G 3370.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.581;DP=170;FS=0.622;HRun=0;HaplotypeScore=635.1038;MQ=58.15;MQ0=0;MQRankSum=-1.525;QD=19.83;ReadPosRankSum=-0.013;set=variant2 GT:AD:DP:GQ:PL 0/1:86,84:170:99:3371,0,3834 7 51287470 51287470 A G exonic COBL synonymous SNV COBL:NM_001287436:exon2:c.T213C:p.S71S,COBL:NM_001287438:exon2:c.T213C:p.S71S,COBL:NM_001346441:exon2:c.T213C:p.S71S,COBL:NM_001346442:exon2:c.T213C:p.S71S,COBL:NM_001346443:exon2:c.T213C:p.S71S,COBL:NM_001346444:exon2:c.T213C:p.S71S,COBL:NM_015198:exon2:c.T213C:p.S71S 0.76 0.76 0.8 0.78 0.74 0.71 0.7545 0.7441 0.8635 0.8405 0.7508 0.7408 0.7467 0.6969 0.74 0.74 0.74 0.7 0.71 rs801142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7594 0.7480 0.8554 0.7038 0.8383 0.7467 0.7461 0.7265 0.6969 0.7499 0.7470 0.8237 0.7020 0.8222 0.7456 0.7423 0.7413 het 2129.68 236 7 51287470 . A G 2129.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.025;DP=236;DS;Dels=0.00;FS=1.672;HRun=0;HaplotypeScore=4.8332;MQ=58.76;MQ0=0;MQRankSum=1.351;QD=9.02;ReadPosRankSum=-0.012;VQSLOD=5.3607;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:148,87:236:99:2160,0,3809 7 53103554 53103554 C G exonic POM121L12 nonsynonymous SNV POM121L12:NM_182595:exon1:c.C190G:p.Q64E 0.34 0.19 0.43 0.31 0.49 0.33 0.4415 0.2288 0.3985 0.2850 0.5393 0.5103 0.5057 0.3546 0.42 0.22 0.51 0.33 0.48 rs11238247 COSM3762745 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.815 0.436 P 0.168 0.335 B . . . 1 0.090 P 0.895 0.225 L 1.91 0.233 T -0.98 0.260 N 0.058 0.041 -0.941 0.424 T 0.000 0.000 T . . . 0.341 0.127 6.087 0.790 0.121 0.025 0.069 N c -0.817 -0.967 0.000 0.035 0.487 0.133 0 1.11 0.195 1.040 0.297 -0.129 0.111 0.001 0.137 0.000 0.016 5.576 0.164 . . . 0.4442 0.2175 0.4067 0.5394 0.2793 0.5434 0.5072 0.4765 0.3601 0.4119 0.2222 0.4486 0.5397 0.2905 0.5324 0.4997 0.4560 het 967.43 61 7 53103554 . C G 967.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.760;DP=61;Dels=0.00;FS=3.609;HRun=0;HaplotypeScore=0.7340;MQ=59.01;MQ0=0;MQRankSum=0.051;QD=15.86;ReadPosRankSum=1.035;VQSLOD=5.2855;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,33:61:99:997,0,630 7 53103571 53103571 G A exonic POM121L12 synonymous SNV POM121L12:NM_182595:exon1:c.G207A:p.G69G 0.33 0.17 0.43 0.3 0.49 0.33 0.4393 0.2111 0.3955 0.2813 0.5386 0.5102 0.5069 0.3539 0.41 0.21 0.51 0.32 0.46 rs11238248 COSM3762746 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4422 0.2019 0.4050 0.5395 0.2753 0.5433 0.5067 0.4744 0.3597 0.4072 0.2089 0.4472 0.5397 0.2821 0.5321 0.4989 0.4550 het 744.85 53 7 53103571 . G A 744.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.779;DP=53;Dels=0.00;FS=3.959;HRun=0;HaplotypeScore=0.5784;MQ=59.56;MQ0=0;MQRankSum=-1.939;QD=14.05;ReadPosRankSum=0.456;VQSLOD=4.7467;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,29:53:99:775,0,641 7 53103673 53103673 C A exonic POM121L12 synonymous SNV POM121L12:NM_182595:exon1:c.C309A:p.P103P 0.49 0.47 0.34 0.6 0.37 0.61 0.4244 0.4740 0.4256 0.6194 0.2852 0.3627 0.3786 0.5898 0.38 0.44 0.35 0.48 0.25 rs1184320 COSM3762747 1(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4115 0.4646 0.4046 0.3902 0.6188 0.2758 0.3542 0.3921 0.5833 0.3956 0.4632 0.3594 0.3609 0.6261 0.2883 0.3595 0.3934 het 517.18 39 7 53103673 . C A 517.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.155;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=0.183;QD=13.26;ReadPosRankSum=-1.278;VQSLOD=6.3227;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,19:39:99:547,0,579 7 53103946 53103946 G C exonic POM121L12 synonymous SNV POM121L12:NM_182595:exon1:c.G582C:p.G194G 0.33 0.17 0.43 0.3 0.49 0.33 0.4380 0.2070 0.3959 0.2807 0.5362 0.5095 0.5067 0.3534 0.41 0.2 0.51 0.33 0.43 rs12113170 COSM4162293 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4440 0.2021 0.4058 0.5391 0.2756 0.5445 0.5080 0.4755 0.3596 0.4082 0.2094 0.4448 0.5433 0.2834 0.5327 0.5003 0.4581 het 807.33 86 7 53103946 . G C 807.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=86;Dels=0.00;FS=2.053;HRun=2;HaplotypeScore=1.9667;MQ=59.46;MQ0=0;MQRankSum=0.790;QD=9.39;ReadPosRankSum=-2.022;VQSLOD=5.8849;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,31:86:99:837,0,1508 7 53104078 53104078 G A exonic POM121L12 synonymous SNV POM121L12:NM_182595:exon1:c.G714A:p.P238P 0.33 0.22 0.25 0.43 0.3 0.47 0.3115 0.2279 0.3233 0.4376 0.2285 0.2759 0.2764 0.4655 0.25 0.22 0.27 0.29 0.3 rs72598686 COSM453222 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3065 0.2295 0.3133 0.2621 0.4345 0.2217 0.2743 0.2921 0.4601 0.2708 0.2416 0.2667 0.2384 0.4434 0.2365 0.2761 0.3008 het 1177.69 80 7 53104078 . G A 1177.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.225;DP=80;Dels=0.00;FS=4.350;HRun=1;HaplotypeScore=2.6132;MQ=59.77;MQ0=0;MQRankSum=-0.535;QD=14.72;ReadPosRankSum=1.749;VQSLOD=5.1336;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,42:80:99:1208,0,1006 7 55214348 55214348 C T exonic EGFR synonymous SNV EGFR:NM_001346898:exon4:c.C474T:p.N158N,EGFR:NM_001346900:exon4:c.C315T:p.N105N,EGFR:NM_005228:exon4:c.C474T:p.N158N,EGFR:NM_201282:exon4:c.C474T:p.N158N,EGFR:NM_201283:exon4:c.C474T:p.N158N,EGFR:NM_201284:exon4:c.C474T:p.N158N 0.48 0.49 0.49 0.35 0.48 0.56 0.5090 0.4978 0.5183 0.3742 0.4820 0.5183 0.5077 0.5531 0.52 0.5 0.53 0.52 0.43 rs2072454 COSM5019139;COSM1451542;COSM42978 1(haematopoietic_and_lymphoid_tissue);18(soft_tissue);1(prostate);2(central_nervous_system) Benign|Likely benign not_specified|Lung_cancer RCV000253696.1|RCV000324154.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0684249:211980:187875007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5112 0.4975 0.5238 0.5647 0.3673 0.4934 0.5198 0.5057 0.5503 0.5053 0.5028 0.5108 0.5497 0.3722 0.4771 0.5269 0.5 het 1373.95 119 7 55214348 . C T 1373.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.154;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5221;MQ=58.77;MQ0=0;MQRankSum=-1.025;QD=11.55;ReadPosRankSum=-2.180;VQSLOD=5.1484;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,56:119:99:1404,0,1761 7 55249063 55249063 G A exonic EGFR synonymous SNV EGFR:NM_001346941:exon14:c.G1560A:p.Q520Q,EGFR:NM_001346897:exon19:c.G2226A:p.Q742Q,EGFR:NM_001346899:exon19:c.G2226A:p.Q742Q,EGFR:NM_001346898:exon20:c.G2361A:p.Q787Q,EGFR:NM_001346900:exon20:c.G2202A:p.Q734Q,EGFR:NM_005228:exon20:c.G2361A:p.Q787Q 0.43 0.42 0.55 0.18 0.61 0.45 0.5228 0.4162 0.5492 0.1642 0.4728 0.5918 0.5529 0.4980 0.54 0.42 0.6 0.37 0.66 rs1050171 COSM1451600 2(breast);1(haematopoietic_and_lymphoid_tissue);7(lung) Benign|Likely benign not_specified|Lung_cancer RCV000038427.3|RCV000321080.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0684249:211980:187875007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5240 0.4092 0.5470 0.6692 0.1710 0.4679 0.5898 0.5806 0.4993 0.5005 0.4162 0.5692 0.6589 0.1743 0.4765 0.5820 0.5245 het 2321.06 180 7 55249063 . G A 2321.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.814;DP=180;DS;Dels=0.00;FS=5.526;HRun=1;HaplotypeScore=3.3541;MQ=59.60;MQ0=0;MQRankSum=0.418;QD=12.89;ReadPosRankSum=-1.634;VQSLOD=4.6533;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,89:180:99:2351,0,2595 7 55266417 55266417 T C exonic EGFR synonymous SNV EGFR:NM_001346941:exon17:c.T1908C:p.T636T,EGFR:NM_001346897:exon22:c.T2574C:p.T858T,EGFR:NM_001346899:exon22:c.T2574C:p.T858T,EGFR:NM_001346898:exon23:c.T2709C:p.T903T,EGFR:NM_001346900:exon23:c.T2550C:p.T850T,EGFR:NM_005228:exon23:c.T2709C:p.T903T 0.92 0.93 0.9 0.92 0.89 0.94 0.8957 0.9250 0.8921 0.9266 0.8796 0.8791 0.8921 0.9371 0.89 0.92 0.87 0.91 0.92 rs1140475 . . Benign not_specified RCV000038451.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8945 0.9258 0.8913 0.8995 0.9260 0.8880 0.8747 0.8963 0.9393 0.8922 0.9260 0.9103 0.9139 0.9228 0.8832 0.8703 0.8878 het 2122.10 152 7 55266417 . T C 2122.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.384;DP=152;Dels=0.00;FS=5.472;HRun=1;HaplotypeScore=9.0139;MQ=59.51;MQ0=0;MQRankSum=-0.153;QD=13.96;ReadPosRankSum=-0.394;VQSLOD=4.3929;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,81:152:99:2152,0,1865 7 56007576 56007576 C T exonic ZNF713 synonymous SNV ZNF713:NM_182633:exon7:c.C1209T:p.C403C 0.34 0.4 0.33 0.3 0.28 0.4 0.2905 0.3856 0.3206 0.3061 0.1766 0.2600 0.2960 0.3701 0.3 0.38 0.26 0.26 0.28 rs34016595 COSM3982234 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2885 0.3851 0.3257 0.3785 0.3015 0.1762 0.2545 0.2949 0.3671 0.2738 0.3734 0.3561 0.38 0.3078 0.1819 0.2295 0.2336 het 1075.26 83 7 56007576 . C T 1075.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.826;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.72;MQ0=0;MQRankSum=-0.379;QD=12.95;ReadPosRankSum=2.067;VQSLOD=5.2768;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,44:83:99:1105,0,983 7 56126360 56126360 T C exonic CCT6A synonymous SNV CCT6A:NM_001009186:exon7:c.T798C:p.V266V,CCT6A:NM_001762:exon8:c.T933C:p.V311V 0.64 0.6 0.66 0.71 0.68 0.58 0.6838 0.6019 0.6992 0.7094 0.7633 0.7014 0.6751 0.6086 0.67 0.6 0.7 0.67 0.52 rs2230197 COSM5021545 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6857 0.6018 0.6926 0.6018 0.7157 0.7645 0.7031 0.6746 0.6117 0.6902 0.6032 0.6563 0.6060 0.7050 0.7509 0.7262 0.7260 het 784.38 97 7 56126360 . T C 784.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.766;DP=97;Dels=0.00;FS=1.753;HRun=0;HaplotypeScore=3.7855;MQ=58.75;MQ0=0;MQRankSum=0.218;QD=8.09;ReadPosRankSum=-0.607;VQSLOD=4.8465;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,38:97:99:814,0,1463 7 56136194 56136194 C T exonic SUMF2 synonymous SNV SUMF2:NM_001042469:exon2:c.C144T:p.S48S,SUMF2:NM_001042470:exon2:c.C144T:p.S48S,SUMF2:NM_001130069:exon2:c.C144T:p.S48S,SUMF2:NM_015411:exon2:c.C144T:p.S48S 0.15 0.073 0.21 0.072 0.22 0.23 0.2014 0.0863 0.2502 0.0540 0.1811 0.2202 0.2194 0.2481 0.18 0.085 0.22 0.18 0.18 rs7808729 COSM3762789;COSM3762788 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2034 0.0821 0.2473 0.2221 0.0525 0.1859 0.2193 0.2162 0.2480 0.1675 0.0854 0.2488 0.2020 0.0532 0.1835 0.2169 0.1971 het 850.70 71 7 56136194 . C T 850.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.516;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;MQRankSum=-0.651;QD=11.98;ReadPosRankSum=1.873;VQSLOD=5.1919;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,38:71:99:881,0,959 7 56136260 56136260 C A exonic SUMF2 nonsynonymous SNV SUMF2:NM_001042469:exon2:c.C210A:p.D70E,SUMF2:NM_001042470:exon2:c.C210A:p.D70E,SUMF2:NM_001130069:exon2:c.C210A:p.D70E,SUMF2:NM_015411:exon2:c.C210A:p.D70E 1. 1. 1. 1. 0.99 1. 0.9989 0.9996 0.9989 1 0.9997 0.9983 0.9978 1 1. 1. 1. 0.97 1. rs4245575 . . . . . . . . . . . . . 1.0 0.010 T 0.058 0.215 B 0.016 0.166 B 0.000 0.843 N 1.000 0.588 P -1.695 0.004 N -3.03 0.923 D 2.44 0.003 N 0.044 0.238 -0.952 0.407 T 0.000 0.000 T . . . 0.586 0.150 8.056 0.703 0.089 0.157 0.189 N c -1.300 -1.039 0.999 0.396 0.707 0.730 0 0.954 0.186 0.381 0.202 0.123 0.211 0.992 0.373 0.945 0.419 4.789 0.125 C-type lectin fold|Sulfatase-modifying factor enzyme . . 0.9989 0.9995 0.9992 0.9991 1 0.9997 0.9980 0.9991 1 0.9985 0.9992 0.9988 1 1 0.9994 0.9976 0.9990 hom 2078.42 64 7 56136260 . C A 2078.42 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8773;MQ=59.28;MQ0=0;QD=32.48;VQSLOD=9.8363;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2111,165,0 7 56149362 56149362 C T exonic PHKG1 synonymous SNV PHKG1:NM_001258460:exon9:c.G852A:p.V284V,PHKG1:NM_006213:exon9:c.G879A:p.V293V,PHKG1:NM_001258459:exon10:c.G975A:p.V325V 0.15 0.061 0.21 0.071 0.22 0.23 0.2008 0.0803 0.2487 0.0540 0.1824 0.2205 0.2174 0.2465 0.17 0.079 0.22 0.14 0.2 rs11238393 COSM3762790 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2035 0.0776 0.2474 0.2224 0.0527 0.1859 0.2198 0.2159 0.2480 0.1668 0.0824 0.2524 0.2 0.0536 0.1831 0.2168 0.1992 het 748.79 76 7 56149362 . C T 748.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.845;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5983;MQ=59.96;MQ0=0;MQRankSum=0.942;QD=9.85;ReadPosRankSum=0.504;VQSLOD=5.9260;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,32:76:99:779,0,1265 7 56149410 56149410 G A exonic PHKG1 synonymous SNV PHKG1:NM_001258460:exon9:c.C804T:p.Y268Y,PHKG1:NM_006213:exon9:c.C831T:p.Y277Y,PHKG1:NM_001258459:exon10:c.C927T:p.Y309Y 0.15 0.061 0.21 0.071 0.22 0.23 0.2010 0.0804 0.2487 0.0541 0.1834 0.2207 0.2204 0.2466 0.17 0.079 0.22 0.15 0.18 rs12538444 COSM3762791 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2034 0.0775 0.2473 0.2225 0.0527 0.1857 0.2197 0.2163 0.2480 0.1666 0.0822 0.25 0.2020 0.0525 0.1830 0.2168 0.1996 het 729.99 50 7 56149410 . G A 729.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.270;DP=50;Dels=0.00;FS=6.230;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.479;QD=14.60;ReadPosRankSum=0.147;VQSLOD=4.7363;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,28:50:99:760,0,663 7 63981563 63981563 A G exonic ZNF680 synonymous SNV ZNF680:NM_178558:exon4:c.T1569C:p.C523C 0.68 0.86 0.67 0.64 0.6 0.58 0.6233 0.8432 0.6567 0.6366 0.6183 0.5947 0.5869 0.5758 0.68 0.83 0.61 0.72 0.55 rs10243954 COSM1131541 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6211 0.8451 0.6549 0.5209 0.6292 0.6191 0.6014 0.5974 0.5751 0.6636 0.8321 0.6112 0.5464 0.5948 0.5980 0.5973 0.6020 het 1023.23 94 7 63981563 . A G 1023.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.038;DP=94;Dels=0.00;FS=10.066;HRun=0;HaplotypeScore=0.9979;MQ=57.88;MQ0=0;MQRankSum=0.023;QD=10.89;ReadPosRankSum=-0.311;VQSLOD=3.7111;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,43:94:99:1053,0,1313 7 64168806 64168806 T C exonic ZNF107 synonymous SNV ZNF107:NM_001282360:exon3:c.T2235C:p.T745T,ZNF107:NM_001282359:exon4:c.T2331C:p.T777T,ZNF107:NM_001013746:exon5:c.T2124C:p.T708T,ZNF107:NM_016220:exon7:c.T2124C:p.T708T 0.33 0.15 0.39 0.25 0.43 0.51 0.4071 0.2094 0.4155 0.2401 0.3134 0.4374 0.4208 0.5161 0.36 0.21 0.44 0.26 0.39 rs4718103 COSM3982243 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4054 0.1970 0.4124 0.5147 0.2426 0.3186 0.4329 0.4260 0.5146 0.3449 0.2055 0.4043 0.4603 0.2432 0.3300 0.4314 0.4012 het 1300.54 81 7 64168806 . T C 1300.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.529;DP=81;Dels=0.00;FS=4.459;HRun=1;HaplotypeScore=5.2845;MQ=59.14;MQ0=0;MQRankSum=1.910;QD=16.06;ReadPosRankSum=0.211;VQSLOD=3.6975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,48:81:99:1331,0,845 7 64169019 64169019 G A exonic ZNF107 synonymous SNV ZNF107:NM_001282360:exon3:c.G2448A:p.E816E,ZNF107:NM_001282359:exon4:c.G2544A:p.E848E,ZNF107:NM_001013746:exon5:c.G2337A:p.E779E,ZNF107:NM_016220:exon7:c.G2337A:p.E779E 0.81 0.61 0.88 0.81 0.93 0.91 0.9154 0.8451 0.8977 0.9182 0.9559 0.9211 0.9112 0.9217 0.89 0.82 0.92 0.83 0.64 rs4717205 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9205 0.8890 0.9035 0.8893 0.9329 0.9607 0.9225 0.9212 0.9179 0.8432 0.6592 0.8720 0.84 0.8041 0.9513 0.9228 0.9170 hom 722.29 28 7 64169019 . G A 722.29 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.990;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=59.17;MQ0=0;MQRankSum=1.609;QD=25.80;ReadPosRankSum=1.486;VQSLOD=5.9933;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,27:28:29.76:755,30,0 7 64291991 64291991 T A exonic ZNF138 nonsynonymous SNV ZNF138:NM_006524:exon3:c.T293A:p.F98Y,ZNF138:NM_001271638:exon4:c.T275A:p.F92Y,ZNF138:NM_001271639:exon4:c.T371A:p.F124Y 0.98 0.93 1. 1. 1. 1. 0.9947 0.9411 0.9984 1 1 0.9999 0.9978 0.9989 0.98 0.94 1. 0.98 0.93 rs4236203 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.185 0.042 N 3.47 0.053 T 3.21 0.001 N 0.039 0.109 -0.991 0.323 T 0.000 0.000 T . . . -1.467 0.018 0.003 0.262 0.012 0.000 0.002 N c -1.912 -1.917 0.022 0.134 0.706 0.609 0 0.85 0.180 -1.618 0.021 -1.170 0.017 0.000 0.063 0.000 0.016 2.805 0.051 . . . 0.9959 0.9423 0.9979 1 1 1 0.9999 0.9972 0.9987 0.9831 0.9411 0.9964 1 1 1 0.9999 0.9969 hom 2390.27 77 7 64291991 . T A 2390.27 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8410;MQ=59.46;MQ0=0;QD=31.04;VQSLOD=8.5269;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2423,193,0 7 64438667 64438667 G A exonic ERV3-1-ZNF117;ZNF117 stopgain ERV3-1-ZNF117:NM_001348050:exon4:c.C1282T:p.R428X,ZNF117:NM_015852:exon4:c.C1282T:p.R428X 0.88 0.73 0.94 0.87 0.97 0.97 0.9321 0.7701 0.9338 0.8527 0.9466 0.9553 0.9332 0.9686 0.9 0.78 0.96 0.86 0.95 rs1404453 . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.516 P . . . . . . . . . . . . . . . . . . . . 6.347 0.876 29.3 0.881 0.172 0.000 0.003 N c -0.823 -1.291 0.053 0.149 0.706 0.609 0 -2.21 0.065 -2.898 0.008 -3.221 0.001 0.000 0.063 0.000 0.016 3.110 0.059 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000152926.10|ENSG00000197008.5|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000197008.5|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000189316.3|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000234585.2|ENSG00000152926.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cortex|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood 0.9346 0.7660 0.9340 0.9766 0.8494 0.9534 0.9535 0.9450 0.9697 0.8953 0.7664 0.9305 0.9768 0.8358 0.9515 0.9563 0.9498 hom 3036.35 96 7 64438667 . G A 3036.35 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.115;DP=96;Dels=0.00;FS=3.245;HRun=0;HaplotypeScore=0.8941;MQ=59.28;MQ0=0;MQRankSum=2.398;QD=31.63;ReadPosRankSum=0.013;VQSLOD=3.7752;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,94:96:99:3069,192,0 7 64439613 64439613 T G exonic ERV3-1-ZNF117;ZNF117 nonsynonymous SNV ERV3-1-ZNF117:NM_001348050:exon4:c.A336C:p.K112N,ZNF117:NM_015852:exon4:c.A336C:p.K112N 0.39 0.4 0.26 0.41 0.4 0.43 0.3784 0.3956 0.2606 0.4017 0.3781 0.3833 0.3456 0.4192 0.38 0.37 0.38 0.39 0.31 rs3807068 COSM3762802 2(large_intestine) . . . . . . . . . . . 0.099 0.306 T 0.996 0.670 D 0.979 0.728 D . . . 1 0.090 P 0.095 0.085 N 5.17 0.012 T -3.93 0.732 D 0.024 0.007 -0.909 0.471 T 0.000 0.000 T . . . 1.269 0.217 12.11 0.966 0.298 0.000 0.002 N c -0.825 -1.135 0.023 0.135 0.732 0.924 0 -2.31 0.063 -3.583 0.005 -0.379 0.065 0.000 0.063 0.000 0.016 4.72 0.122 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000235421.1|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000198039.7|ENSG00000164669.8|ENSG00000224316.1|ENSG00000270948.1|ENSG00000213462.4|ENSG00000189316.3|ENSG00000269558.1|ENSG00000213640.3|ENSG00000235421.1|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000224316.1|ENSG00000189316.3|ENSG00000227113.2|ENSG00000182722.5|ENSG00000269558.1|ENSG00000213640.3|ENSG00000198039.7|ENSG00000226002.1|ENSG00000224316.1|ENSG00000213462.4|ENSG00000227113.2|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000152926.10|ENSG00000164669.8|ENSG00000213462.4|ENSG00000269558.1|ENSG00000213640.3|ENSG00000213462.4|ENSG00000227113.2|ENSG00000234585.2|ENSG00000226002.1|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000152926.10|ENSG00000213462.4|ENSG00000189316.3|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000197008.5|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000269558.1|ENSG00000164669.8|ENSG00000226002.1|ENSG00000213640.3|ENSG00000232270.2|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000227113.2|ENSG00000213640.3|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000226002.1|ENSG00000227113.2|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000235421.1|ENSG00000164669.8|ENSG00000226002.1|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000224316.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000269558.1|ENSG00000213640.3|ENSG00000213462.4|ENSG00000234585.2|ENSG00000234585.2|ENSG00000236529.1|ENSG00000182722.5|ENSG00000213462.4|ENSG00000213640.3|ENSG00000213462.4|ENSG00000182722.5|ENSG00000226002.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000164669.8|ENSG00000189316.3|ENSG00000213640.3|ENSG00000198039.7|ENSG00000213462.4|ENSG00000189316.3|ENSG00000152926.10|ENSG00000226002.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000164669.8|ENSG00000270948.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000152926.10|ENSG00000164669.8|ENSG00000224316.1|ENSG00000213462.4|ENSG00000189316.3|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000189316.3|ENSG00000198039.7|ENSG00000234585.2|ENSG00000226002.1|ENSG00000189316.3|ENSG00000213640.3|ENSG00000198039.7|ENSG00000235421.1|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000198039.7|ENSG00000164669.8|ENSG00000224316.1|ENSG00000189316.3|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000198039.7|ENSG00000164669.8|ENSG00000213640.3|ENSG00000235421.1|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000198039.7|ENSG00000164669.8|ENSG00000224316.1|ENSG00000189316.3|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000164669.8|ENSG00000234585.2|ENSG00000189316.3|ENSG00000213640.3|ENSG00000198039.7|ENSG00000189316.3|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000213640.3|ENSG00000164669.8|ENSG00000226002.1|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000164669.8|ENSG00000227113.2|ENSG00000182722.5|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000164669.8|ENSG00000213462.4|ENSG00000213640.3|ENSG00000234585.2|ENSG00000234585.2|ENSG00000213640.3|ENSG00000152926.10|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000224316.1|ENSG00000213462.4|ENSG00000189316.3|ENSG00000213640.3|ENSG00000235421.1|ENSG00000227113.2|ENSG00000232270.2|ENSG00000164669.8|ENSG00000269558.1|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000198039.7|ENSG00000164669.8|ENSG00000224316.1|ENSG00000189316.3|ENSG00000213640.3|ENSG00000226002.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000213462.4|ENSG00000213640.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3680 0.3986 0.2570 0.2911 0.3994 0.3774 0.3867 0.3471 0.4093 0.3837 0.3948 0.2794 0.2715 0.4001 0.3770 0.3870 0.3526 hom 933.45 31 7 64439613 . T G 933.45 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.11;VQSLOD=14.0228;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:78.23:966,78,0 7 64439701 64439701 C T exonic ERV3-1-ZNF117;ZNF117 nonsynonymous SNV ERV3-1-ZNF117:NM_001348050:exon4:c.G248A:p.C83Y,ZNF117:NM_015852:exon4:c.G248A:p.C83Y 0.39 0.4 0.26 0.41 0.4 0.43 0.3736 0.3926 0.2575 0.3945 0.3743 0.3784 0.3413 0.4149 0.37 0.38 0.37 0.35 0.21 rs3807069 COSM3762803 2(large_intestine) . . . . . . . . . . . 0.074 0.346 T 0.156 0.266 B 0.055 0.246 B . . . 1 0.090 P 2.185 0.615 M 1.31 0.354 T -8.84 0.978 D 0.09 0.088 -1.026 0.216 T 0.000 0.000 T . . . 3.167 0.440 22.7 0.808 0.129 0.001 0.009 N c -0.763 -0.979 0.017 0.129 0.732 0.924 0 0.163 0.142 2.004 0.402 0.309 0.271 0.151 0.235 0.003 0.074 5.985 0.185 Zinc finger C2H2-type/integrase DNA-binding domain ENSG00000235421.1|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000198039.7|ENSG00000164669.8|ENSG00000224316.1|ENSG00000270948.1|ENSG00000213462.4|ENSG00000189316.3|ENSG00000269558.1|ENSG00000213640.3|ENSG00000235421.1|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000224316.1|ENSG00000189316.3|ENSG00000227113.2|ENSG00000182722.5|ENSG00000269558.1|ENSG00000213640.3|ENSG00000198039.7|ENSG00000226002.1|ENSG00000224316.1|ENSG00000213462.4|ENSG00000227113.2|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000152926.10|ENSG00000164669.8|ENSG00000213462.4|ENSG00000269558.1|ENSG00000213640.3|ENSG00000213462.4|ENSG00000227113.2|ENSG00000234585.2|ENSG00000226002.1|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000152926.10|ENSG00000213462.4|ENSG00000189316.3|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000197008.5|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000269558.1|ENSG00000164669.8|ENSG00000226002.1|ENSG00000213640.3|ENSG00000232270.2|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000227113.2|ENSG00000213640.3|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000226002.1|ENSG00000227113.2|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000235421.1|ENSG00000164669.8|ENSG00000226002.1|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000224316.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000269558.1|ENSG00000213640.3|ENSG00000213462.4|ENSG00000234585.2|ENSG00000234585.2|ENSG00000236529.1|ENSG00000182722.5|ENSG00000213462.4|ENSG00000213640.3|ENSG00000213462.4|ENSG00000182722.5|ENSG00000226002.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000164669.8|ENSG00000189316.3|ENSG00000213640.3|ENSG00000198039.7|ENSG00000213462.4|ENSG00000189316.3|ENSG00000152926.10|ENSG00000226002.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000164669.8|ENSG00000270948.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000152926.10|ENSG00000164669.8|ENSG00000224316.1|ENSG00000213462.4|ENSG00000189316.3|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000189316.3|ENSG00000198039.7|ENSG00000234585.2|ENSG00000226002.1|ENSG00000189316.3|ENSG00000213640.3|ENSG00000198039.7|ENSG00000235421.1|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000198039.7|ENSG00000164669.8|ENSG00000224316.1|ENSG00000189316.3|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000198039.7|ENSG00000164669.8|ENSG00000213640.3|ENSG00000235421.1|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000198039.7|ENSG00000164669.8|ENSG00000224316.1|ENSG00000189316.3|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000164669.8|ENSG00000234585.2|ENSG00000189316.3|ENSG00000213640.3|ENSG00000198039.7|ENSG00000189316.3|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000213640.3|ENSG00000164669.8|ENSG00000226002.1|ENSG00000269558.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000164669.8|ENSG00000227113.2|ENSG00000182722.5|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000164669.8|ENSG00000213462.4|ENSG00000213640.3|ENSG00000234585.2|ENSG00000234585.2|ENSG00000213640.3|ENSG00000152926.10|ENSG00000234585.2|ENSG00000164669.8|ENSG00000226002.1|ENSG00000224316.1|ENSG00000213462.4|ENSG00000189316.3|ENSG00000213640.3|ENSG00000235421.1|ENSG00000227113.2|ENSG00000232270.2|ENSG00000164669.8|ENSG00000269558.1|ENSG00000234585.2|ENSG00000226002.1|ENSG00000227113.2|ENSG00000182722.5|ENSG00000198039.7|ENSG00000164669.8|ENSG00000224316.1|ENSG00000189316.3|ENSG00000213640.3|ENSG00000226002.1|ENSG00000213640.3|ENSG00000234585.2|ENSG00000226002.1|ENSG00000213462.4|ENSG00000213640.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3621 0.3943 0.2490 0.2807 0.3931 0.3731 0.3804 0.3409 0.4020 0.3843 0.3953 0.2783 0.2715 0.4016 0.3772 0.3878 0.3548 hom 725.48 22 7 64439701 . C T 725.48 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;QD=32.98;VQSLOD=9.0252;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:63.19:758,63,0 7 64451656 64451656 G A exonic ERV3-1 synonymous SNV ERV3-1:NM_001007253:exon2:c.C1749T:p.V583V 0.39 0.4 0.26 0.41 0.4 0.43 0.4363 0.4437 0.3648 0.4596 0.4619 0.4355 0.4145 0.4393 0.38 0.39 0.38 0.39 . rs4718177 COSM5653504 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3679 0.3980 0.2621 0.3008 0.4014 0.3782 0.3858 0.3544 0.4163 0.3839 0.3953 0.2818 0.2715 0.4009 0.3764 0.3871 0.3535 hom 274.42 11 7 64451656 . G A 274.42 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=24.95;VQSLOD=13.1147;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:24.06:307,24,0 7 64452698 64452698 T C exonic ERV3-1 nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.A707G:p.Y236C 0.0092 . 0.0014 . 0.018 0.028 0.0207 0.0022 0.0038 0.0005 0.0541 0.0250 0.0320 0.0224 0.015 0.0023 0.022 0.011 . rs71539632 . . . . . . . . . . . . . 0.047 0.403 D . . . . . . . . . 1 0.090 N 0 0.065 N 2.7 0.122 T -0.04 0.076 N 0.122 0.138 -0.960 0.392 T 0.009 0.031 T . . . 1.696 0.265 14.39 0.971 0.317 0.006 0.026 N c -0.809 -0.952 0.880 0.256 0.732 0.924 0 0.109 0.138 0.204 0.170 0.234 0.260 0.270 0.248 0.379 0.251 . . . . . 0.0190 0.0019 0.0048 0.0147 0.0004 0.0509 0.0246 0.0152 0.0222 0.0238 0.0028 0.0107 0.0099 0 0.0490 0.0335 0.0275 het 1433.17 114 7 64452698 . T C 1433.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.205;DP=114;Dels=0.00;FS=9.881;HRun=0;HaplotypeScore=1.7608;MQ=59.84;MQ0=0;MQRankSum=0.434;QD=12.57;ReadPosRankSum=1.699;VQSLOD=4.0244;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,54:114:99:1463,0,1702 7 64453136 64453136 G A exonic ERV3-1 nonsynonymous SNV ERV3-1:NM_001007253:exon2:c.C269T:p.T90I 0.89 0.77 0.95 0.87 0.97 0.97 0.9363 0.8160 0.9364 0.8532 0.9462 0.9551 0.9372 0.9687 0.92 0.83 0.96 0.88 . rs6460219 . . . . . . . . . . . . . 0.338 0.128 T 0.01 0.144 B 0.001 0.040 B . . . 1.000 0.202 P 1.15 0.294 L 2.68 0.124 T -0.51 0.160 N 0.028 0.009 -1.044 0.160 T 0.000 0.000 T . . . 1.871 0.286 15.41 0.966 0.299 0.079 0.137 N c -0.875 -0.820 0.881 0.256 0.706 0.609 0 0.109 0.138 0.240 0.177 0.234 0.260 0.946 0.326 0.962 0.444 . . . ENSG00000152926.10|ENSG00000152926.10|ENSG00000197008.5|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000197008.5|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000197008.5|ENSG00000152926.10|ENSG00000182722.5|ENSG00000234338.1|ENSG00000152926.10|ENSG00000189316.3|ENSG00000152926.10|ENSG00000152926.10|ENSG00000152926.10|ENSG00000197008.5|ENSG00000152926.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.9372 0.8139 0.9367 0.9765 0.8496 0.9501 0.9535 0.9473 0.9697 0.9088 0.8129 0.9308 0.9768 0.8358 0.9519 0.9569 0.9532 hom 2621.84 86 7 64453136 . G A 2621.84 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=30.49;VQSLOD=8.8088;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2655,214,0 7 65425894 65425894 A G exonic GUSB nonsynonymous SNV GUSB:NM_001284290:exon10:c.T1508C:p.L503P,GUSB:NM_001293105:exon10:c.T1289C:p.L430P,GUSB:NM_001293104:exon11:c.T1376C:p.L459P,GUSB:NM_000181:exon12:c.T1946C:p.L649P 0.58 0.35 0.56 0.83 0.56 0.67 0.5796 0.3646 0.5650 0.8363 0.6142 0.5640 0.6002 0.6391 0.49 0.37 0.55 0.54 0.26 rs9530 . . Benign|Benign not_specified|Mucopolysaccharidosis_type_VII RCV000078327.5|RCV000394365.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0085132:253220:ORPHA584 . . . . . . 0.709 0.063 T 0.0 0.026 B 0.001 0.040 B 0.900 0.073 N 1 0.090 P -1.1 0.010 N -3.72 0.954 D 1.32 0.009 N 0.045 0.074 -0.917 0.460 T 0.000 0.000 T . . . -0.408 0.061 0.370 0.502 0.043 0.039 0.092 N c -1.290 -1.280 0.011 0.122 0.672 0.522 0 -0.066 0.130 -0.232 0.090 -0.261 0.088 0.001 0.137 0.227 0.223 9.884 0.402 Glycoside hydrolase family 2\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000273142.1|ENSG00000226824.2|ENSG00000237310.1|ENSG00000224316.1|ENSG00000226824.2|ENSG00000237310.1|ENSG00000272831.1|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000230583.2|ENSG00000273142.1|ENSG00000169919.12|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000237310.1|ENSG00000224316.1|ENSG00000226824.2|ENSG00000196715.5|ENSG00000236529.1|ENSG00000273142.1|ENSG00000179406.6|ENSG00000243335.4|ENSG00000272831.1|ENSG00000226824.2|ENSG00000237310.1|ENSG00000226824.2|ENSG00000226824.2|ENSG00000196715.5|ENSG00000273142.1|ENSG00000226824.2|ENSG00000126522.12|ENSG00000196715.5|ENSG00000236529.1|ENSG00000273142.1|ENSG00000272831.1|ENSG00000226824.2|ENSG00000237310.1|ENSG00000169902.9|ENSG00000196715.5|ENSG00000230583.2|ENSG00000273142.1|ENSG00000272831.1|ENSG00000226824.2|ENSG00000169919.12|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000196715.5|ENSG00000241258.2|ENSG00000226824.2|ENSG00000273142.1|ENSG00000169919.12|ENSG00000226824.2|ENSG00000237310.1|ENSG00000196715.5|ENSG00000230295.1|ENSG00000273142.1|ENSG00000243335.4|ENSG00000226824.2|ENSG00000237310.1|ENSG00000226824.2|ENSG00000226824.2|ENSG00000273142.1|ENSG00000226824.2|ENSG00000226824.2|ENSG00000272831.1|ENSG00000226824.2|ENSG00000236529.1|ENSG00000196715.5|ENSG00000236529.1|ENSG00000273142.1|ENSG00000169919.12|ENSG00000226824.2|ENSG00000237310.1|ENSG00000224316.1|ENSG00000226824.2|ENSG00000226824.2|ENSG00000226824.2|ENSG00000237310.1|ENSG00000273142.1|ENSG00000196715.5|ENSG00000229886.1|ENSG00000169919.12|ENSG00000226824.2|ENSG00000196715.5|ENSG00000236529.1|ENSG00000230583.2|ENSG00000273142.1|ENSG00000272831.1|ENSG00000169919.12|ENSG00000226824.2|ENSG00000237310.1|ENSG00000226824.2|ENSG00000226824.2|ENSG00000236529.1|ENSG00000272831.1|ENSG00000226824.2|ENSG00000237310.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.5855 0.3600 0.5561 0.6474 0.8366 0.6255 0.5569 0.5838 0.6438 0.5234 0.3629 0.5264 0.6424 0.8265 0.6137 0.5559 0.5945 hom 7576.89 249 7 65425894 . A G 7576.89 Mask AC=2;AF=1.00;AN=2;DP=249;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5057;MQ=58.86;MQ0=0;QD=30.43;VQSLOD=8.7266;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7575,641,0 7 69064806 69064806 A G exonic AUTS2 nonsynonymous SNV AUTS2:NM_001127231:exon1:c.A167G:p.K56R,AUTS2:NM_001127232:exon1:c.A167G:p.K56R,AUTS2:NM_015570:exon1:c.A167G:p.K56R . . . . . . 2.327e-05 0 0 0 0 4.211e-05 0 0 . . . . . rs776816196 . . . . . . . . . . . . . 0.149 0.247 T 0.002 0.286 B 0.005 0.292 B 0.010 0.302 N 1.000 0.205 N 0.755 0.192 N 1.53 0.304 T -0.19 0.168 N 0.122 0.141 -1.070 0.094 T 0.041 0.175 T 0.497 0.951 D 2.186 0.324 17.42 0.995 0.684 0.061 0.120 N c -0.249 -0.110 1.000 0.437 0.564 0.319 0 2.73 0.311 1.839 0.386 1.085 0.854 1.000 0.715 1.000 0.888 4.471 0.111 . . . 1.281e-05 0 0 0 0 0 2.88e-05 0 0 . . . . . . . . het 387.99 24 7 69064806 . A G 387.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.727;DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=58.43;MQ0=0;MQRankSum=1.435;QD=16.17;ReadPosRankSum=-1.376;VQSLOD=4.9960;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,14:24:99:418,0,267 7 71142219 71142219 C T exonic GALNT17 synonymous SNV GALNT17:NM_022479:exon9:c.C1428T:p.D476D 0.047 0.0045 0.073 0.001 0.11 0.064 0.0939 0.0189 0.0498 0.0001 0.1377 0.1233 0.1046 0.0840 0.089 0.024 0.12 0.076 0.066 rs61740246 COSM4162383 1(stomach);1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0950 0.0183 0.0526 0.1459 0.0002 0.1372 0.1221 0.1062 0.0851 0.0891 0.0211 0.0528 0.1589 0 0.1305 0.1276 0.1143 het 4103.84 250 7 71142219 . C T 4103.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.355;DP=250;DS;Dels=0.00;FS=0.985;HRun=0;HaplotypeScore=7.2718;MQ=58.48;MQ0=0;MQRankSum=-0.226;QD=16.42;ReadPosRankSum=-1.199;VQSLOD=3.8653;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,124:250:99:3422,0,3337 7 72297549 72297549 G A exonic TYW1B unknown UNKNOWN 0.094 0.11 0.11 . 0.17 0.087 0.1317 0.1172 0.0710 0.0001 0.1784 0.1654 0.1520 0.0962 0.15 0.12 0.17 0.12 . rs73131518 . . . . . . . . . . . . . . . . 0.083 0.232 B 0.032 0.208 B . . . . . . . . . . . . . . . 0.015 0.009 . . . . . . . . . 0.465 0.139 7.158 0.717 0.094 0.014 0.047 N n -0.019 -0.110 0.980 0.300 0.162 0.029 0 -1.74 0.076 -0.019 0.124 0.543 0.283 0.000 0.063 0.720 0.314 9.267 0.366 . ENSG00000254184.3 Skin_Not_Sun_Exposed_Suprapubic 0.1320 0.1150 0.0798 0.1444 0.0006 0.1817 0.1676 0.1463 0.0967 0.1427 0.1146 0.0969 0.1457 0 0.1855 0.1658 0.1609 het 1202.96 107 7 72297549 . G A 1202.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.203;DP=107;Dels=0.00;FS=1.599;HRun=0;HaplotypeScore=0.0000;MQ=57.30;MQ0=0;MQRankSum=0.402;QD=11.24;ReadPosRankSum=1.013;VQSLOD=4.0323;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1233,0,1525 7 72745738 72745738 C T exonic FKBP6 nonsynonymous SNV FKBP6:NM_001281304:exon4:c.C457T:p.R153C,FKBP6:NM_001135211:exon5:c.C532T:p.R178C,FKBP6:NM_003602:exon5:c.C547T:p.R183C 0.0004 . . . 0.002 . 0.0032 0.0004 0.0003 0 0.0024 0.0054 0 6.056e-05 0.0029 0.0003 0.0041 . . rs147213094 . . . . . . . . . . . . . 0.019 0.512 D 1.0 0.899 D 0.939 0.657 D 0.002 0.381 N 1.000 0.506 D 2.075 0.572 M -0.88 0.747 T -3.42 0.701 D 0.864 0.851 0.019 0.826 D 0.502 0.812 D 0.081 0.737 D 6.192 0.854 28.6 0.999 0.979 0.893 0.495 D c 0.651 0.631 0.978 0.299 0.497 0.185 0 5.46 0.799 2.427 0.442 0.932 0.445 1.000 0.715 1.000 0.888 8.638 0.329 Tetratricopeptide-like helical domain . . 0.0030 0.0008 0.0003 0 0 0.0034 0.0055 0.0022 3.249e-05 0.0030 0.0013 0 0 0 0.0043 0.0043 0.0020 het 2364.79 162 7 72745738 . C T 2364.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.023;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0324;MQ=59.20;MQ0=0;MQRankSum=-0.005;QD=14.60;ReadPosRankSum=-0.022;VQSLOD=2.7982;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,86:162:99:2395,0,1837 7 72754645 72754645 G A exonic FKBP6 synonymous SNV FKBP6:NM_001281304:exon5:c.G504A:p.L168L,FKBP6:NM_001135211:exon6:c.G579A:p.L193L,FKBP6:NM_003602:exon6:c.G594A:p.L198L 0.048 0.003 0.11 0.078 0.069 0.0092 0.0622 0.0125 0.1772 0.0814 0.0421 0.0615 0.0423 0.0133 0.044 0.016 0.057 0.043 0.033 rs56301507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0662 0.0116 0.1692 0.0402 0.0867 0.0396 0.0616 0.0690 0.0134 0.0439 0.0120 0.1519 0.0397 0.1006 0.0446 0.0498 0.05 het 490.60 63 7 72754645 . G A 490.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.829;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=58.97;MQ0=0;MQRankSum=-0.998;QD=7.79;ReadPosRankSum=-0.078;VQSLOD=5.2519;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,24:63:99:521,0,1109 7 72891754 72891754 C T exonic BAZ1B synonymous SNV BAZ1B:NM_032408:exon7:c.G2037A:p.S679S 0.35 0.043 0.48 0.44 0.47 0.45 0.4452 0.1079 0.4662 0.4618 0.5813 0.4808 0.4813 0.4343 0.35 0.12 0.47 0.28 0.48 rs2074754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4523 0.1024 0.4644 0.3771 0.4539 0.5811 0.4814 0.4531 0.4375 0.3948 0.1149 0.4678 0.34 0.4411 0.5753 0.5013 0.4929 hom 4561.66 149 7 72891754 . C T 4561.66 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.638;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9103;MQ=59.06;MQ0=0;MQRankSum=1.568;QD=30.62;ReadPosRankSum=1.358;VQSLOD=6.0506;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,148:149:99:4536,327,0 7 72985148 72985148 C T exonic TBL2 nonsynonymous SNV TBL2:NM_012453:exon7:c.G1033A:p.V345I 0.016 0.0015 0.022 . 0.057 0.0051 0.0400 0.0089 0.0230 0 0.0657 0.0581 0.0553 0.0086 0.038 0.0093 0.052 0.022 0.033 rs35607697 . . . . . . . . . . . . . 0.028 0.461 D 0.917 0.548 P 0.37 0.485 B 0.000 0.843 D 1.000 0.524 D 1.765 0.459 L 1.6 0.286 T -0.77 0.214 N 0.07 0.235 -1.169 0.006 T 0.014 0.058 T . . . 5.533 0.752 26.3 0.998 0.872 0.981 0.791 D c 0.324 0.386 1.000 0.747 0.707 0.730 0 5.1 0.688 5.860 0.691 0.935 0.490 1.000 0.715 0.993 0.574 12.973 0.577 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000205578.4|ENSG00000205578.4 Adipose_Visceral_Omentum|Nerve_Tibial 0.0402 0.0075 0.0267 0.0547 0 0.0695 0.0559 0.0498 0.0087 0.0439 0.0093 0.0298 0.0530 0 0.0678 0.0624 0.0642 het 2014.86 155 7 72985148 . C T 2014.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.716;DP=155;DS;Dels=0.00;FS=4.011;HRun=0;HaplotypeScore=2.2424;MQ=59.25;MQ0=0;MQRankSum=0.043;QD=13.00;ReadPosRankSum=0.383;VQSLOD=6.3750;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,77:155:99:2045,0,2208 7 73097654 73097654 C T exonic DNAJC30 nonsynonymous SNV DNAJC30:NM_032317:exon1:c.G100A:p.G34R 0.3 0.2 0.27 0.32 0.45 0.3 0.3857 0.2100 0.2670 0.3582 0.3927 0.4479 0.3935 0.3338 0.37 0.21 0.45 0.29 0.35 rs1128349 COSM3762820 1(thyroid);2(large_intestine) . . . . . . . . . . . 0.614 0.054 T 0.0 0.026 B 0.001 0.040 B 0.278 0.038 N 1 0.090 P 0.95 0.239 L 0.4 0.573 T 0.05 0.064 N 0.042 0.022 -0.972 0.368 T 0.000 0.000 T . . . 0.191 0.112 4.581 0.884 0.174 0.023 0.066 N c -1.280 -1.286 1.000 0.747 0.442 0.072 0 -1.84 0.073 -0.486 0.065 -0.068 0.120 0.000 0.063 0.000 0.016 1.673 0.026 . . . 0.3832 0.2081 0.2681 0.4357 0.3633 0.3998 0.4492 0.4080 0.3362 0.3651 0.2173 0.3031 0.4866 0.3778 0.3970 0.4416 0.3949 het 2489.71 198 7 73097654 . C T 2489.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.388;DP=198;DS;Dels=0.00;FS=6.024;HRun=1;HaplotypeScore=2.8653;MQ=59.22;MQ0=0;MQRankSum=-1.092;QD=12.57;ReadPosRankSum=-0.249;VQSLOD=4.9813;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:104,94:198:99:2520,0,2858 7 73122923 73122923 A G exonic STX1A synonymous SNV STX1A:NM_001165903:exon3:c.T204C:p.D68D,STX1A:NM_004603:exon3:c.T204C:p.D68D 0.46 0.5 0.39 0.41 0.56 0.39 0.5235 0.5132 0.4221 0.4218 0.5294 0.5738 0.5475 0.4465 0.55 0.51 0.57 0.49 0.47 rs2228607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5148 0.5043 0.4239 0.6322 0.4268 0.5229 0.5646 0.5511 0.4388 0.5295 0.5090 0.4463 0.6556 0.4380 0.5175 0.5568 0.5214 hom 1143.07 39 7 73122923 . A G 1143.07 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7377;MQ=58.88;MQ0=0;QD=29.31;VQSLOD=7.7442;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1176,102,0 7 73151644 73151644 A G exonic ABHD11 synonymous SNV ABHD11:NM_001321382:exon4:c.T201C:p.Y67Y,ABHD11:NM_148912:exon4:c.T540C:p.Y180Y,ABHD11:NM_148913:exon4:c.T519C:p.Y173Y 0.6 0.83 0.54 0.52 0.49 0.55 0.5435 0.7755 0.5436 0.5296 0.5005 0.5055 0.5529 0.5741 0.59 0.77 0.49 0.63 0.51 rs6460052 COSM3982260 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5394 0.7752 0.5565 0.5651 0.5265 0.4956 0.4997 0.5454 0.5766 0.5731 0.7811 0.5788 0.5331 0.5291 0.4940 0.4839 0.4488 het 1900.61 149 7 73151644 . A G 1900.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.770;DP=149;Dels=0.00;FS=3.942;HRun=0;HaplotypeScore=10.5627;MQ=59.41;MQ0=0;MQRankSum=0.958;QD=12.76;ReadPosRankSum=1.071;VQSLOD=3.8271;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,77:149:99:1931,0,1977 7 73249165 73249165 T A exonic METTL27 nonsynonymous SNV METTL27:NM_152559:exon6:c.A646T:p.R216W 0.58 0.46 0.61 0.58 0.73 0.57 0.6644 0.5171 0.5900 0.6061 0.6780 0.7336 0.6294 0.5567 0.67 0.52 0.74 0.43 0.7 rs13246460 COSM3774297 1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . 0.203 0.201 T 0.973 0.556 D 0.43 0.436 B 0.372 0.044 N 0.999 0.218 P 1.625 0.417 L -0.42 0.695 T 0.33 0.039 N 0.162 0.195 -0.964 0.385 T 0.000 0.000 T . . . 5.512 0.749 26.3 0.999 0.955 0.905 0.515 D c 0.074 0.072 1.000 0.747 0.696 0.567 0 5.25 0.731 5.680 0.676 1.045 0.669 1.000 0.715 0.009 0.108 11.668 0.505 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000106077.14|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165215.5|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.6610 0.5145 0.5821 0.6719 0.5986 0.6786 0.7394 0.6577 0.5554 0.6618 0.5230 0.6002 0.7020 0.5946 0.6774 0.7450 0.7178 hom 3846.67 128 7 73249165 . T A 3846.67 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.39;MQ0=0;QD=29.82;VQSLOD=8.2936;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:128:99:3846,307,0 7 73249299 73249299 G C exonic METTL27 nonsynonymous SNV METTL27:NM_152559:exon6:c.C512G:p.S171W 0.58 0.46 0.61 0.58 0.73 0.57 0.6640 0.5172 0.5879 0.6039 0.6777 0.7331 0.6269 0.5586 0.67 0.52 0.74 0.4 0.54 rs13232463 . . . . . . . . . . . . . 0.186 0.214 T 0.993 0.637 D 0.804 0.565 P 0.709 0.100 N 0.008 0.416 P 1.385 0.346 L 1.36 0.344 T -0.85 0.232 N 0.138 0.160 -1.041 0.170 T 0.000 0.000 T . . . 4.549 0.609 24.3 0.987 0.445 0.807 0.399 D c 0.285 0.272 1.000 0.747 0.718 0.821 0 5.09 0.685 1.679 0.370 0.120 0.210 0.970 0.340 0.164 0.209 14.159 0.648 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000106077.14|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165215.5|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.6603 0.5135 0.5809 0.6718 0.5976 0.6774 0.7388 0.6576 0.5554 0.6616 0.5232 0.6002 0.7053 0.5929 0.6768 0.7451 0.7204 hom 1679.02 48 7 73249299 . G C 1679.02 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.1101;MQ=58.73;MQ0=0;QD=34.98;VQSLOD=8.9989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1712,132,0 7 73254812 73254812 T C exonic METTL27 nonsynonymous SNV METTL27:NM_152559:exon4:c.A320G:p.Q107R 0.58 0.46 0.61 0.58 0.73 0.57 0.6764 0.5406 0.6023 0.6177 0.7009 0.7406 0.6421 0.5772 0.66 0.52 0.73 0.43 0.48 rs13241921 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.079 0.210 N 1 0.090 P -0.99 0.012 N -0.03 0.631 T 1.23 0.010 N 0.015 0.002 -0.970 0.372 T 0.000 0.000 T . . . -2.543 0.003 0.001 0.179 0.005 0.001 0.006 N c -1.722 -1.702 0.998 0.365 0.554 0.283 0 -3.02 0.051 -1.661 0.021 -0.328 0.075 0.000 0.063 0.001 0.043 12.233 0.536 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000106077.14|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165215.5|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.6578 0.5083 0.5798 0.6716 0.5966 0.6769 0.7367 0.6588 0.5549 0.6620 0.5234 0.5983 0.7053 0.5958 0.6770 0.7454 0.7203 hom 646.04 22 7 73254812 . T C 646.04 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;QD=29.37;VQSLOD=8.1981;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:57.15:679,57,0 7 73275565 73275565 T A exonic TMEM270 nonsynonymous SNV TMEM270:NM_182504:exon1:c.T41A:p.I14N 0.54 0.29 0.6 0.63 0.73 0.58 0.6563 0.3687 0.5792 0.6471 0.6783 0.7350 0.6219 0.5616 0.63 0.39 0.75 0.36 0.56 rs11770052 . . . . . . . . . . . . . 0.075 0.344 T 0.835 0.443 P 0.576 0.482 P 0.219 0.162 N 1 0.090 P 1.1 0.281 L 1.97 0.221 T -5.01 0.824 D 0.256 0.312 -1.097 0.044 T 0.000 0.000 T . . . 1.877 0.286 15.45 0.441 0.033 0.061 0.120 N c -0.386 -0.523 0.002 0.087 0.403 0.052 0 3.07 0.343 2.010 0.403 1.061 0.807 0.036 0.206 0.009 0.108 5.633 0.167 . ENSG00000106077.14|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165215.5|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165215.5|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000189143.8|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.6545 0.3671 0.5724 0.6493 0.6401 0.6787 0.7424 0.6563 0.5598 0.6209 0.3672 0.5907 0.6854 0.6329 0.6788 0.7480 0.7160 hom 1923.32 67 7 73275565 . T A 1923.32 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=28.71;VQSLOD=7.6689;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1956,156,0 7 73279482 73279482 T C exonic TMEM270 nonsynonymous SNV TMEM270:NM_182504:exon2:c.T232C:p.W78R 0.56 0.33 0.59 0.65 0.68 0.64 0.6386 0.4064 0.5664 0.6620 0.6369 0.6830 0.6101 0.6372 0.61 0.43 0.69 0.39 0.52 rs13227841 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.187 0.169 N 1 0.090 P -0.805 0.016 N 2.64 0.128 T 4.05 0.001 N 0.029 0.010 -0.976 0.358 T 0.000 0.000 T . . . -2.847 0.002 0.001 0.254 0.012 0.000 0.002 N c -1.950 -1.912 0.311 0.193 0.554 0.283 0 -3.02 0.051 0.399 0.205 -0.360 0.068 0.000 0.063 0.000 0.016 0.146 0.001 . ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000165171.6|ENSG00000165171.6|ENSG00000225969.1|ENSG00000165171.6|ENSG00000189143.8|ENSG00000165171.6|ENSG00000106077.14|ENSG00000225969.1|ENSG00000165171.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6347 0.4093 0.5592 0.5921 0.6551 0.6354 0.6904 0.6283 0.6309 0.6044 0.4047 0.5788 0.6126 0.6531 0.6412 0.7025 0.6875 hom 3328.98 105 7 73279482 . T C 3328.98 Mask AC=2;AF=1.00;AN=2;DP=105;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5572;MQ=59.47;MQ0=0;QD=31.70;VQSLOD=8.8415;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:105:99:3328,304,0 7 73280020 73280020 C T exonic TMEM270 synonymous SNV TMEM270:NM_182504:exon3:c.C615T:p.T205T 0.42 0.26 0.49 0.43 0.57 0.42 0.5139 0.3192 0.4556 0.4501 0.5298 0.5812 0.5045 0.4266 0.49 0.32 0.58 0.29 0.54 rs1136647 COSM3982261 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5133 0.3196 0.4562 0.5257 0.4457 0.5318 0.5858 0.5175 0.4283 0.4938 0.3146 0.4784 0.5199 0.4168 0.5301 0.5939 0.5595 het 3151.35 245 7 73280020 . C T 3151.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.103;DP=245;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.9120;MQ=59.28;MQ0=0;MQRankSum=1.250;QD=12.86;ReadPosRankSum=-0.052;VQSLOD=4.5716;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,117:245:99:3181,0,3708 7 73470714 73470714 G A exonic ELN nonsynonymous SNV ELN:NM_001081752:exon19:c.G1234A:p.G412S,ELN:NM_001278914:exon19:c.G1249A:p.G417S,ELN:NM_001278916:exon19:c.G1222A:p.G408S,ELN:NM_001278917:exon19:c.G1234A:p.G412S,ELN:NM_000501:exon20:c.G1264A:p.G422S,ELN:NM_001081753:exon20:c.G1279A:p.G427S,ELN:NM_001081754:exon20:c.G1279A:p.G427S,ELN:NM_001081755:exon20:c.G1264A:p.G422S,ELN:NM_001278912:exon20:c.G1264A:p.G422S,ELN:NM_001278915:exon20:c.G1264A:p.G422S,ELN:NM_001278939:exon20:c.G1264A:p.G422S 0.22 0.13 0.25 0.11 0.42 0.23 0.3262 0.1677 0.2065 0.1151 0.3534 0.4168 0.3568 0.2419 0.33 0.18 0.41 0.2 0.32 rs2071307 COSM150313 1(stomach) Benign|Benign|Benign not_specified|Supravalvular_aortic_stenosis|Cutis_Laxa\x2c_Dominant RCV000036524.6|RCV000264113.1|RCV000319237.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|HP:0004381:CN003880|CN239355 . . . . . . 0.129 0.912 T 0.012 0.151 B 0.002 0.063 B . . . 1 0.090 P 0 0.065 N 1.13 0.585 T -2.01 0.480 N 0.052 0.049 -0.976 0.360 T 0.000 0.000 T . . . 0.407 0.133 6.674 0.771 0.113 0.040 0.093 N c -1.312 -1.395 0.035 0.142 0.646 0.450 0 1.2 0.201 0.709 0.252 -1.044 0.020 0.016 0.191 0.032 0.149 7.391 0.259 . . . 0.3222 0.1617 0.2164 0.4604 0.1117 0.3538 0.4102 0.3615 0.2417 0.3049 0.1661 0.2321 0.4371 0.1183 0.3615 0.3916 0.3507 hom 3791.78 122 7 73470714 . G A 3791.78 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4639;MQ=59.43;MQ0=0;QD=31.08;VQSLOD=6.0422;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3791,301,0 7 73753250 73753250 T C exonic CLIP2 synonymous SNV CLIP2:NM_003388:exon3:c.T594C:p.T198T,CLIP2:NM_032421:exon3:c.T594C:p.T198T 0.54 0.35 0.58 0.49 0.76 0.61 0.6604 0.3885 0.6063 0.4605 0.7245 0.7366 0.6620 0.6312 0.63 0.4 0.74 0.54 0.67 rs539518 COSM4162422;COSM4162423 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6593 0.3751 0.6067 0.7358 0.4588 0.7156 0.7372 0.6817 0.6314 0.6226 0.3883 0.6172 0.7267 0.4343 0.7294 0.7484 0.6874 hom 3318.57 109 7 73753250 . T C 3318.57 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.23;MQ0=0;QD=30.45;VQSLOD=9.5416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3318,271,0 7 73814749 73814749 G C exonic CLIP2 nonsynonymous SNV CLIP2:NM_032421:exon14:c.G2825C:p.R942P,CLIP2:NM_003388:exon15:c.G2930C:p.R977P 0.99 1. 0.98 1. 0.98 0.98 0.9822 0.9962 0.9930 1 0.9882 0.9800 0.9747 0.9630 0.98 1. 0.98 0.97 0.99 rs2522943 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.217 P -1.935 0.002 N 0.42 0.574 T 2.72 0.002 N 0.35 0.443 -0.964 0.385 T 0.000 0.000 T . . . 2.325 0.341 18.33 0.565 0.054 0.121 0.169 N c -0.654 -0.411 0.425 0.203 0.719 0.830 0 4.72 0.591 5.520 0.666 0.066 0.173 1.000 0.715 0.379 0.251 13.814 0.626 . . . 0.9815 0.9964 0.9913 0.9585 0.9999 0.9903 0.9795 0.9846 0.9610 0.9889 0.9969 0.9952 0.9636 1 0.9914 0.9831 0.9817 hom 4562.56 164 7 73814749 . G C 4562.56 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4529;MQ=59.32;MQ0=0;QD=27.82;VQSLOD=6.9893;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,163:164:99:4561,391,0 7 73932560 73932560 A G exonic GTF2IRD1 synonymous SNV GTF2IRD1:NM_001199207:exon5:c.A609G:p.E203E,GTF2IRD1:NM_005685:exon5:c.A513G:p.E171E,GTF2IRD1:NM_016328:exon5:c.A513G:p.E171E 0.24 0.47 0.2 0.095 0.16 0.18 0.2026 0.4376 0.1540 0.1029 0.1061 0.2062 0.1806 0.1685 0.27 0.41 0.2 0.26 0.18 rs17851629 COSM3762826 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1859 0.4334 0.1590 0.1841 0.1007 0.0937 0.1999 0.1804 0.1620 0.2392 0.4328 0.1770 0.2020 0.0808 0.0962 0.1870 0.1564 het 269.52 28 7 73932560 . A G 269.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.317;DP=28;Dels=0.00;FS=3.524;HRun=2;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.141;QD=9.63;ReadPosRankSum=0.612;VQSLOD=5.4662;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,11:28:99:300,0,464 7 73944185 73944185 T C exonic GTF2IRD1 synonymous SNV GTF2IRD1:NM_001199207:exon9:c.T1308C:p.Y436Y,GTF2IRD1:NM_005685:exon9:c.T1212C:p.Y404Y,GTF2IRD1:NM_016328:exon9:c.T1212C:p.Y404Y 0.28 0.25 0.3 0.47 0.21 0.21 0.2462 0.2368 0.2686 0.4766 0.2068 0.2323 0.2351 0.1884 0.23 0.24 0.23 0.37 0.22 rs2240357 COSM3762827 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2456 0.2406 0.2733 0.1831 0.4741 0.1982 0.2333 0.2365 0.1899 0.2426 0.2375 0.2739 0.2086 0.4522 0.2056 0.2321 0.2210 het 881.10 71 7 73944185 . T C 881.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DP=71;Dels=0.00;FS=4.697;HRun=0;HaplotypeScore=1.7046;MQ=59.68;MQ0=0;MQRankSum=-1.350;QD=12.41;ReadPosRankSum=-0.042;VQSLOD=5.6802;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,35:71:99:911,0,950 7 73969541 73969541 A G exonic GTF2IRD1 nonsynonymous SNV GTF2IRD1:NM_001199207:exon18:c.A2050G:p.M684V,GTF2IRD1:NM_005685:exon18:c.A1954G:p.M652V,GTF2IRD1:NM_016328:exon18:c.A1954G:p.M652V 0.41 0.64 0.34 0.51 0.25 0.24 0.3078 0.6027 0.2930 0.5157 0.2472 0.2638 0.2885 0.2256 0.37 0.59 0.26 0.51 0.28 rs2301895 COSM3982264 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.062 T 0.0 0.026 B 0.0 0.040 B 0.502 0.051 N 1 0.090 P -0.695 0.019 N 1.7 0.269 T 0.49 0.030 N 0.183 0.223 -0.937 0.431 T 0.000 0.000 T . . . -1.754 0.012 0.002 0.344 0.021 0.017 0.053 N c -1.634 -1.673 0.001 0.076 0.745 0.986 0 -3.69 0.041 -0.954 0.040 -3.284 0.001 0.000 0.063 0.000 0.016 1.440 0.022 . . . 0.2990 0.6077 0.2986 0.2186 0.5166 0.2370 0.2644 0.2775 0.2237 0.3707 0.5977 0.3038 0.2583 0.4925 0.2446 0.2667 0.2800 het 2205.24 175 7 73969541 . A G 2205.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.893;DP=175;Dels=0.00;FS=0.575;HRun=0;HaplotypeScore=5.6779;MQ=59.27;MQ0=0;MQRankSum=0.628;QD=12.60;ReadPosRankSum=1.416;VQSLOD=4.3959;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,88:175:99:2235,0,2116 7 75051368 75051368 T C exonic POM121C nonsynonymous SNV POM121C:NM_001099415:exon13:c.A2167G:p.T723A 0.13 0.13 0.084 0.15 0.13 0.14 0.1164 0.1383 0.1054 0.1731 0.0515 0.1135 0.0906 0.1215 . . . . . rs398003 COSM3747727;COSM3747726 1(haematopoietic_and_lymphoid_tissue);1(liver);7(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.301 0.146 N 0.941 0.268 P -0.46 0.027 N . . . . . . 0.031 0.043 -0.951 0.409 T 0.000 0.000 T . . . -1.518 0.016 0.002 0.140 0.003 0.002 0.012 N c -1.467 -1.349 0.000 0.035 0.707 0.730 0 2.22 0.270 0.471 0.217 -0.661 0.040 0.074 0.220 0.025 0.141 8.120 0.300 . . . 0.1107 0.1260 0.1027 0.1261 0.1671 0.0433 0.1144 0.1053 0.1132 0.1021 0.0986 0.1093 0.1531 0.1412 0.0497 0.1125 0.0761 het 521.50 36 7 75051368 . T C 521.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.875;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.55;MQ0=7;MQRankSum=0.509;QD=14.49;ReadPosRankSum=0.509;VQSLOD=3.9694;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:14,22:36:99:551,0,319 7 75211414 75211414 A G exonic HIP1 synonymous SNV HIP1:NM_001243198:exon6:c.T519C:p.A173A,HIP1:NM_005338:exon6:c.T519C:p.A173A 0.097 0.11 0.079 0.075 0.08 0.14 0.0849 0.1043 0.0631 0.0666 0.0696 0.0721 0.0983 0.1551 0.079 0.093 0.072 0.098 0.041 rs237238 COSM5020620 2(soft_tissue) . . . . . Alcoholism (12-month weekly alcohol consumption) . -0.16 21529783 rs237238 7E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0796 0.1011 0.0582 0.0527 0.0680 0.0688 0.0710 0.0709 0.1479 0.0794 0.1038 0.0465 0.0331 0.0699 0.0670 0.0716 0.0818 het 557.60 49 7 75211414 . A G 557.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.618;DP=49;Dels=0.00;FS=4.180;HRun=1;HaplotypeScore=1.7873;MQ=56.39;MQ0=0;MQRankSum=1.432;QD=11.38;ReadPosRankSum=1.012;VQSLOD=3.5894;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,23:49:99:588,0,627 7 75442730 75442730 T G exonic CCL24 nonsynonymous SNV CCL24:NM_002991:exon2:c.A85C:p.I29L 0.35 0.27 0.41 0.56 0.18 0.35 0.2748 0.2813 0.5158 0.5610 0.1585 0.1897 0.2522 0.3464 0.23 0.28 0.2 0.26 0.28 rs2302006 COSM4162444 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.316 0.137 T 0.004 0.112 B 0.01 0.139 B 0.496 0.051 N 1 0.090 P 1.22 0.307 L 3.84 0.037 T -0.79 0.219 N 0.054 0.036 -0.977 0.357 T 0.000 0.000 T . . . -0.248 0.072 0.868 0.678 0.082 0.171 0.195 N c -1.112 -1.137 0.004 0.104 0.487 0.133 0 -0.408 0.117 0.168 0.163 -0.225 0.096 0.659 0.280 0.039 0.156 9.527 0.381 Chemokine interleukin-8-like domain . . 0.2845 0.2812 0.4998 0.2783 0.5604 0.1600 0.1864 0.2661 0.3481 0.2421 0.2754 0.4558 0.2815 0.5844 0.1561 0.1946 0.2188 het 976.56 72 7 75442730 . T G 976.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.391;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5362;MQ=59.74;MQ0=0;MQRankSum=-0.552;QD=13.56;ReadPosRankSum=-0.834;VQSLOD=6.3766;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,37:72:99:1007,0,842 7 75513062 75513062 A G exonic RHBDD2 synonymous SNV RHBDD2:NM_001346188:exon2:c.A225G:p.A75A,RHBDD2:NM_001346189:exon2:c.A189G:p.A63A,RHBDD2:NM_001040456:exon3:c.A633G:p.A211A,RHBDD2:NM_001346187:exon3:c.A210G:p.A70A,RHBDD2:NM_001040457:exon4:c.A210G:p.A70A,RHBDD2:NM_001346186:exon5:c.A210G:p.A70A 0.99 1. 0.97 1. 0.96 0.99 0.9677 0.9941 0.9914 0.9999 0.8985 0.9566 0.9722 0.9910 0.97 0.99 0.96 1. 0.99 rs42183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9672 0.9942 0.9901 0.9710 0.9999 0.8993 0.9584 0.9659 0.9910 0.9613 0.9938 0.9821 0.9801 1 0.8986 0.9523 0.9420 hom 7371.64 250 7 75513062 . A G 7371.64 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4429;MQ=59.14;MQ0=0;QD=29.49;VQSLOD=6.9555;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7370,611,0 7 75614953 75614953 T C exonic POR synonymous SNV POR:NM_000941:exon13:c.T1455C:p.A485A 0.84 0.61 0.91 0.85 0.96 0.94 0.9226 0.6735 0.8597 0.8582 0.9869 0.9656 0.9572 0.9336 0.87 0.68 0.97 0.76 . rs2228104 COSM4162445;COSM4162446 1(thyroid) Benign|Benign not_specified|Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis RCV000127583.3|RCV000308656.1 MedGen|MedGen:OMIM CN169374|C1860042:201750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9213 0.6528 0.8606 0.9764 0.8509 0.9872 0.9654 0.9398 0.9316 0.8763 0.6665 0.8831 0.9735 0.8631 0.9840 0.9676 0.9439 hom 395.73 17 7 75614953 . T C 395.73 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;QD=23.28;VQSLOD=7.3927;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:33.10:429,33,0 7 75615287 75615287 G A exonic POR synonymous SNV POR:NM_000941:exon14:c.G1716A:p.S572S 0.2 0.13 0.21 0.038 0.34 0.29 0.3811 0.2213 0.3371 0.0523 0.4775 0.4461 0.3520 0.3212 0.29 0.15 0.35 0.13 . rs1057870 COSM3762835;COSM3762836 1(liver);1(thyroid);1(large_intestine) Benign|Likely benign not_specified|Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis RCV000243975.1|RCV000356109.1 MedGen|MedGen:OMIM CN169374|C1860042:201750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2794 0.1512 0.1865 0.2848 0.0262 0.3258 0.3590 0.2904 0.2780 0.2852 0.1728 0.2076 0.3146 0.0296 0.3249 0.3700 0.3286 het 180.53 17 7 75615287 . G A 180.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.818;DP=17;Dels=0.00;FS=1.987;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.914;QD=10.62;ReadPosRankSum=0.241;VQSLOD=6.4254;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:211,0,191 7 75621827 75621827 A G exonic TMEM120A unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 . . . 1. . rs4732519 COSN9974911 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9998 1 1 1 1 1 1 1 1.0000 0.9999 1 1 1 1 1 1 hom 346.38 12 7 75621827 . A G 346.38 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.04;MQ0=0;QD=28.87;VQSLOD=7.4171;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:379,30,0 7 75630274 75630274 T C exonic;splicing STYXL1;STYXL1 NM_001317788:exon6:c.410-1A>G synonymous SNV STYXL1:NM_001317787:exon6:c.A456G:p.Q152Q,STYXL1:NM_001317789:exon6:c.A330G:p.Q110Q,STYXL1:NM_001317785:exon8:c.A744G:p.Q248Q,STYXL1:NM_001317786:exon8:c.A744G:p.Q248Q,STYXL1:NM_016086:exon8:c.A744G:p.Q248Q 0.62 0.6 0.67 0.56 0.71 0.61 0.6783 0.6230 0.6295 0.5612 0.5959 0.7308 0.6641 0.6300 0.69 0.63 0.73 0.63 0.71 rs8565 COSM5445705 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6767 0.6236 0.6358 0.7719 0.5696 0.5931 0.7331 0.6992 0.6296 0.6671 0.6189 0.6563 0.7748 0.5695 0.5863 0.7227 0.6694 hom 5941.81 191 7 75630274 . T C 5941.81 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.0595;MQ=59.40;MQ0=0;QD=31.11;VQSLOD=6.8203;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5941,448,0 7 75659815 75659815 T C exonic STYXL1 synonymous SNV STYXL1:NM_001317785:exon2:c.A27G:p.P9P,STYXL1:NM_001317786:exon2:c.A27G:p.P9P,STYXL1:NM_001317787:exon2:c.A27G:p.P9P,STYXL1:NM_001317788:exon2:c.A27G:p.P9P,STYXL1:NM_016086:exon2:c.A27G:p.P9P 0.47 0.23 0.58 0.39 0.67 0.55 0.5993 0.3054 0.5028 0.4009 0.5843 0.6969 0.6244 0.5660 0.57 0.32 0.7 0.41 0.63 rs1044483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6012 0.3019 0.5107 0.7475 0.4050 0.5797 0.6991 0.6391 0.5652 0.5494 0.3104 0.5561 0.7483 0.4054 0.5697 0.6901 0.6191 hom 3174.10 113 7 75659815 . T C 3174.10 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.80;MQ0=0;QD=28.09;VQSLOD=7.6701;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3207,256,0 7 76131695 76131695 A G exonic DTX2 synonymous SNV DTX2:NM_001102596:exon5:c.A1170G:p.L390L,DTX2:NM_001102595:exon7:c.A1311G:p.L437L,DTX2:NM_001102594:exon8:c.A1311G:p.L437L,DTX2:NM_020892:exon9:c.A1311G:p.L437L 0.69 0.57 0.72 0.81 0.66 0.71 0.6711 0.5860 0.7541 0.8101 0.7450 0.6355 0.6621 0.7058 0.61 0.57 0.63 0.49 0.63 rs4728775 COSM4162458 1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6776 0.5818 0.7484 0.6421 0.8102 0.7453 0.6327 0.6478 0.7026 0.6503 0.5788 0.7136 0.6633 0.8096 0.7493 0.6470 0.6622 hom 2507.28 80 7 76131695 . A G 2507.28 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4679;MQ=50.15;MQ0=2;QD=31.34;VQSLOD=3.4902;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,79:80:99:2540,202,0 7 76144455 76144455 A C exonic UPK3B nonsynonymous SNV UPK3B:NM_001347684:exon6:c.A765C:p.R255S,UPK3B:NM_182684:exon6:c.A765C:p.R255S 0.99 0.96 1. 1. 1. 1. 0.9962 0.9575 0.9993 0.9983 1 0.9999 0.9984 0.9998 0.99 0.96 1. 0.98 0.62 rs1799125 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.020 0.015 N 1 0.237 P . . . 0.69 0.517 T 1.46 0.008 N . . -0.959 0.395 T 0.000 0.000 T . . . -1.910 0.009 0.002 0.194 0.007 0.002 0.011 N c -2.063 -2.173 0.436 0.204 0.706 0.609 0 -6.95 0.015 -3.523 0.005 -2.483 0.003 0.000 0.063 0.013 0.120 11.172 0.476 . . . 0.9972 0.9590 0.9980 1 0.9992 0.9999 0.9999 0.9996 0.9998 0.9877 0.9578 0.9976 1 0.9969 1 1 0.9969 hom 309.52 13 7 76144455 . A C 309.52 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=23.81;VQSLOD=7.1281;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:27.08:343,27,0 7 76144483 76144483 A G exonic UPK3B nonsynonymous SNV UPK3B:NM_030570:exon4:c.A878G:p.Q293R,UPK3B:NM_182683:exon5:c.A713G:p.Q238R,UPK3B:NM_001347684:exon6:c.A793G:p.K265E,UPK3B:NM_182684:exon6:c.A793G:p.K265E 0.34 0.21 0.38 0.44 0.4 0.32 0.3960 0.2472 0.3914 0.4300 0.5566 0.4183 0.4434 0.3498 0.33 0.22 0.39 0.21 0.16 rs1636632 . . . . . . . . . . . . . 1.0 0.030 T 0.0 0.026 B 0.0 0.013 B 0.017 0.015 N 1 0.090 P . . . 1.44 0.327 T -0.11 0.093 N 0.03 0.254 -0.967 0.377 T 0.000 0.000 T . . . 0.023 0.096 2.806 0.155 0.004 0.002 0.012 N c -1.053 -0.927 0.001 0.084 0.615 0.372 0 3.76 0.422 2.099 0.412 0.137 0.221 0.197 0.241 0.918 0.393 9.203 0.362 . ENSG00000230305.2|ENSG00000188372.10|ENSG00000146700.8|ENSG00000214243.3|ENSG00000243566.2|ENSG00000230305.2|ENSG00000242435.1|ENSG00000188372.10|ENSG00000250778.1|ENSG00000243566.2|ENSG00000188372.10|ENSG00000243566.2|ENSG00000188372.10|ENSG00000214243.3|ENSG00000243566.2|ENSG00000243566.2|ENSG00000188372.10|ENSG00000214243.3|ENSG00000243566.2|ENSG00000146707.10|ENSG00000243566.2|ENSG00000243566.2|ENSG00000146707.10|ENSG00000243566.2|ENSG00000146707.10|ENSG00000243566.2|ENSG00000146707.10|ENSG00000243566.2|ENSG00000146707.10|ENSG00000243566.2|ENSG00000243566.2|ENSG00000243566.2|ENSG00000243566.2|ENSG00000243566.2|ENSG00000188372.10|ENSG00000243566.2|ENSG00000188372.10|ENSG00000214243.3|ENSG00000188372.10|ENSG00000214243.3|ENSG00000243566.2|ENSG00000188372.10|ENSG00000243566.2|ENSG00000091073.15|ENSG00000243566.2|ENSG00000188372.10|ENSG00000243566.2|ENSG00000230305.2|ENSG00000233980.1|ENSG00000188372.10|ENSG00000091073.15|ENSG00000242435.1|ENSG00000243566.2|ENSG00000188372.10|ENSG00000243566.2|ENSG00000188372.10|ENSG00000243566.2|ENSG00000243566.2|ENSG00000243566.2|ENSG00000230305.2|ENSG00000188372.10|ENSG00000146700.8|ENSG00000242435.1|ENSG00000243566.2|ENSG00000230305.2|ENSG00000188372.10|ENSG00000243566.2|ENSG00000205485.9|ENSG00000230305.2|ENSG00000188372.10|ENSG00000146700.8|ENSG00000214243.3|ENSG00000243566.2|ENSG00000188372.10|ENSG00000188372.10|ENSG00000243566.2|ENSG00000243566.2|ENSG00000214243.3|ENSG00000230305.2|ENSG00000243566.2|ENSG00000230305.2|ENSG00000233980.1|ENSG00000188372.10|ENSG00000250778.1|ENSG00000243566.2|ENSG00000230305.2|ENSG00000233980.1|ENSG00000188372.10|ENSG00000250778.1|ENSG00000243566.2|ENSG00000188372.10|ENSG00000188372.10|ENSG00000243566.2|ENSG00000188372.10|ENSG00000243566.2|ENSG00000230305.2|ENSG00000233980.1|ENSG00000185040.11|ENSG00000188372.10|ENSG00000250778.1|ENSG00000230305.2|ENSG00000188372.10|ENSG00000214243.3|ENSG00000243566.2|ENSG00000243566.2|ENSG00000243566.2|ENSG00000230305.2|ENSG00000188372.10|ENSG00000091073.15|ENSG00000243566.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3751 0.2129 0.3614 0.3284 0.3980 0.5249 0.3853 0.3785 0.3315 0.3688 0.2258 0.3624 0.3367 0.4118 0.5383 0.4065 0.4039 het 151.24 17 7 76144483 . A G 151.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.454;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-1.780;QD=8.90;ReadPosRankSum=-0.722;VQSLOD=4.9275;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,8:17:99:181,0,212 7 76240786 76240786 A - exonic POMZP3 frameshift deletion POMZP3:NM_012230:exon6:c.560delT:p.L187delinsRNRRHVTEEADVTVGPLIFLDRRGDHEVEQWALPSDTSVVLLGVGLAVVVSLTLTAVILVLTRRCRTASHPVSASE 0.52 0.53 0.54 0.42 0.52 0.57 0.5021 0.5201 0.5004 0.4308 0.3483 0.5154 0.5083 0.5454 0.54 0.56 0.53 0.24 0.5 rs71819724 COSM5446155 1(thyroid);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4846 0.5367 0.4704 0.5840 0.4244 0.3446 0.5002 0.4960 0.5369 0.5362 0.5995 0.5525 0.6338 0.4237 0.3926 0.5435 0.5341 het 1560.85 132 7 76240785 . CA C 1560.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.692;DP=132;FS=15.665;HRun=1;HaplotypeScore=329.6323;MQ=52.23;MQ0=4;MQRankSum=-6.759;QD=11.39;ReadPosRankSum=2.685;set=variant2 GT:AD:DP:GQ:PL 0/1:84,53:132:99:1600,0,3548 7 76871113 76871113 A G exonic CCDC146 synonymous SNV CCDC146:NM_020879:exon4:c.A345G:p.A115A 0.07 0.0068 0.072 0.052 0.16 0.08 0.1165 0.0258 0.0690 0.0425 0.0946 0.1541 0.1192 0.1016 0.12 0.032 0.16 0.043 0.2 rs17230060 COSM150318 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1142 0.0237 0.0719 0.1127 0.0398 0.0958 0.1577 0.1259 0.1010 0.1052 0.0315 0.0919 0.1060 0.0284 0.0983 0.1584 0.1100 het 1302.18 112 7 76871113 . A G 1302.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.665;DP=112;Dels=0.00;FS=7.373;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=0.122;QD=11.63;ReadPosRankSum=-0.343;VQSLOD=5.1519;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1332,0,1521 7 76885769 76885769 A G exonic CCDC146 synonymous SNV CCDC146:NM_020879:exon6:c.A627G:p.Q209Q 0.5 0.2 0.57 0.46 0.69 0.68 0.6255 0.2885 0.5395 0.4371 0.6800 0.7002 0.6247 0.6702 0.57 0.31 0.7 0.47 0.63 rs3108428 COSM4415628 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6270 0.2799 0.5415 0.6785 0.4405 0.6783 0.7015 0.6399 0.6696 0.5629 0.2865 0.5598 0.6722 0.4511 0.6741 0.6991 0.6929 het 799.58 74 7 76885769 . A G 799.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.338;DP=74;Dels=0.00;FS=0.922;HRun=0;HaplotypeScore=0.0000;MQ=58.23;MQ0=0;MQRankSum=2.197;QD=10.81;ReadPosRankSum=-0.250;VQSLOD=4.9205;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,33:74:99:830,0,1079 7 77035392 77035392 T C exonic GSAP nonsynonymous SNV GSAP:NM_001350896:exon2:c.A140G:p.H47R,GSAP:NM_001350897:exon2:c.A140G:p.H47R,GSAP:NM_001350898:exon2:c.A140G:p.H47R,GSAP:NM_001350899:exon2:c.A140G:p.H47R,GSAP:NM_017439:exon2:c.A140G:p.H47R 0.91 0.98 0.88 0.92 0.86 0.88 0.8767 0.9698 0.9378 0.9177 0.7921 0.8554 0.8695 0.8623 0.89 0.96 0.86 0.9 0.25 rs6949654 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.056 0.226 N 1.000 0.588 P -0.505 0.026 N 2.54 0.139 T 2.44 0.003 N 0.055 0.037 -1.000 0.300 T 0.000 0.000 T . . . -1.028 0.031 0.014 0.139 0.003 0.024 0.068 N c -1.072 -0.787 0.950 0.278 0.615 0.372 0 3.65 0.408 0.095 0.149 -0.490 0.052 0.770 0.291 0.943 0.417 7.812 0.282 . ENSG00000186088.11 Cells_Transformed_fibroblasts 0.8559 0.9676 0.9266 0.8761 0.9039 0.7756 0.8458 0.8471 0.8530 0.8661 0.9669 0.9211 0.8609 0.9114 0.7899 0.8211 0.8067 hom 989.59 36 7 77035392 . T C 989.59 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;QD=27.49;VQSLOD=7.5899;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:78.25:1023,78,0 7 77247821 77247821 G A exonic PTPN12 nonsynonymous SNV PTPN12:NM_001131009:exon11:c.G574A:p.V192I,PTPN12:NM_001131008:exon12:c.G607A:p.V203I,PTPN12:NM_002835:exon12:c.G964A:p.V322I 0.79 0.87 0.77 0.9 0.63 0.73 0.6721 0.8324 0.8226 0.8980 0.5602 0.5985 0.6553 0.6908 0.67 0.83 0.59 0.81 0.58 rs9640663 COSM1568868 1(haematopoietic_and_lymphoid_tissue);4(prostate) . . . . . . . . . . . 0.316 0.144 T 0.0 0.026 B 0.002 0.063 B 0.036 0.246 N 0.972 0.256 P 0.835 0.211 L 1.36 0.344 T -0.32 0.136 N 0.005 0.004 -1.020 0.237 T 0.000 0.000 T . . . 1.833 0.281 15.18 0.970 0.312 0.885 0.481 D c -0.474 -0.298 0.049 0.148 0.732 0.924 0 3.41 0.380 2.398 0.439 0.912 0.422 1.000 0.715 1.000 0.888 9.193 0.362 PTP type protein phosphatase|Protein-tyrosine phosphatase-like ENSG00000135211.5|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000214293.4|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000214293.4|ENSG00000214293.4|ENSG00000214293.4|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000135211.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6719 0.8307 0.8152 0.6794 0.8983 0.5650 0.5900 0.6651 0.6872 0.6793 0.8362 0.7776 0.6391 0.8880 0.5491 0.5944 0.625 het 1690.84 166 7 77247821 . G A 1690.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.268;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2998;MQ=58.66;MQ0=0;MQRankSum=-0.080;QD=10.19;ReadPosRankSum=-0.917;VQSLOD=4.4137;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,72:166:99:1721,0,2295 7 77256713 77256713 A G exonic PTPN12 nonsynonymous SNV PTPN12:NM_001131009:exon12:c.A1327G:p.T443A,PTPN12:NM_001131008:exon13:c.A1360G:p.T454A,PTPN12:NM_002835:exon13:c.A1717G:p.T573A 0.36 0.22 0.44 0.69 0.16 0.39 0.2612 0.2159 0.4787 0.7072 0.1752 0.1582 0.2434 0.3554 0.17 0.22 0.15 0.35 0.16 rs3750050 COSM3762840 1(haematopoietic_and_lymphoid_tissue);18(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.286 0.152 T 0.001 0.067 B 0.002 0.063 B 0.028 0.256 N 1 0.090 P 1.43 0.360 L 1.05 0.400 T -0.87 0.307 N 0.011 0.130 -0.946 0.416 T 0.000 0.000 T . . . -1.275 0.023 0.005 0.586 0.059 0.062 0.120 N c -1.459 -1.398 0.999 0.391 0.707 0.730 0 -0.387 0.118 -0.243 0.089 0.232 0.259 0.000 0.063 0.527 0.275 1.038 0.014 . . . 0.2690 0.2142 0.4614 0.1854 0.7106 0.1703 0.1559 0.2400 0.3524 0.2123 0.2046 0.3864 0.1391 0.7045 0.1602 0.1681 0.2051 het 3214.14 241 7 77256713 . A G 3214.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.675;DP=241;Dels=0.00;FS=5.293;HRun=0;HaplotypeScore=2.3639;MQ=59.25;MQ0=0;MQRankSum=0.119;QD=13.34;ReadPosRankSum=-0.801;VQSLOD=5.7416;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,120:241:99:3244,0,2994 7 77423574 77423574 G A exonic TMEM60 synonymous SNV TMEM60:NM_032936:exon2:c.C117T:p.F39F 0.57 0.86 0.44 0.32 0.51 0.57 0.4985 0.8108 0.4078 0.3055 0.3956 0.4883 0.4945 0.5490 0.59 0.79 0.49 0.6 0.52 rs7953 COSM3762842 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4882 0.8100 0.4203 0.5851 0.3071 0.3997 0.4838 0.5103 0.5488 0.5457 0.8011 0.4689 0.6033 0.3114 0.3900 0.4662 0.4776 het 957.42 74 7 77423574 . G A 957.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.639;DP=74;Dels=0.00;FS=0.900;HRun=2;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;MQRankSum=-0.800;QD=12.94;ReadPosRankSum=0.833;VQSLOD=6.1478;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,36:74:99:987,0,1016 7 77552127 77552127 G A exonic PHTF2 nonsynonymous SNV PHTF2:NM_001127359:exon9:c.G1049A:p.R350H,PHTF2:NM_001127360:exon9:c.G1037A:p.R346H 0.6 0.43 0.69 0.78 0.55 0.64 0.6092 0.4678 0.6887 0.7796 0.6226 0.5899 0.6243 0.6574 0.55 0.46 0.58 0.6 . rs848486 . . . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . . . . -0.53 0.164 N 0.012 0.003 -0.991 0.323 T 0.000 0.000 T . . . 0.561 0.148 7.884 0.892 0.180 0.003 0.015 N c -1.155 -1.211 0.747 0.233 0.476 0.093 0 -0.832 0.102 -2.558 0.010 -0.190 0.103 0.000 0.063 0.023 0.138 6.322 0.203 . ENSG00000135211.5|ENSG00000214293.4|ENSG00000214293.4|ENSG00000214293.4|ENSG00000187257.10|ENSG00000214293.4|ENSG00000214293.4|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000214293.4|ENSG00000214293.4|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000214293.4|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000135211.5|ENSG00000214293.4|ENSG00000214293.4|ENSG00000214293.4|ENSG00000135211.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.6113 0.4497 0.6545 0.5270 0.7956 0.6156 0.5862 0.5894 0.6502 0.5701 0.4533 0.6253 0.5132 0.7955 0.6249 0.5970 0.6020 hom 279.16 10 7 77552127 . G A 279.16 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.92;VQSLOD=12.7156;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:312,24,0 7 77756580 77756580 T C exonic MAGI2 synonymous SNV MAGI2:NM_001301128:exon18:c.A3315G:p.L1105L,MAGI2:NM_012301:exon19:c.A3357G:p.L1119L 0.79 0.92 0.72 0.57 0.87 0.79 0.8248 0.9096 0.6836 0.5804 0.8770 0.8735 0.8029 0.7814 0.88 0.91 0.87 0.79 0.86 rs2074641 . . Likely benign not_specified RCV000117573.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8159 0.9111 0.6969 0.7914 0.5790 0.8726 0.8766 0.8263 0.7746 0.8715 0.9082 0.7362 0.8013 0.6043 0.8788 0.8868 0.8615 hom 5130.04 157 7 77756580 . T C 5130.04 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;QD=32.68;VQSLOD=9.9353;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5130,394,0 7 77756724 77756724 C T exonic MAGI2 synonymous SNV MAGI2:NM_001301128:exon18:c.G3171A:p.S1057S,MAGI2:NM_012301:exon19:c.G3213A:p.S1071S 0.79 0.92 0.72 0.57 0.87 0.79 0.8244 0.9091 0.6831 0.5784 0.8769 0.8734 0.8049 0.7806 0.88 0.91 0.87 0.83 0.84 rs7812015 COSM3750045 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) Likely benign not_specified RCV000117572.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8142 0.9108 0.6969 0.7929 0.5792 0.8738 0.8768 0.8257 0.7750 0.8715 0.9082 0.7380 0.8013 0.6032 0.8789 0.8869 0.8615 hom 2600.15 82 7 77756724 . C T 2600.15 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=60.00;MQ0=0;QD=31.71;VQSLOD=9.0984;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2633,205,0 7 77789403 77789403 A G exonic MAGI2 synonymous SNV MAGI2:NM_001301128:exon15:c.T2742C:p.N914N,MAGI2:NM_012301:exon16:c.T2784C:p.N928N 0.13 0.12 0.13 0.19 0.094 0.098 0.1177 0.1201 0.1839 0.1750 0.1343 0.1033 0.0944 0.0910 0.11 0.12 0.1 0.13 0.14 rs1009524 COSM3762843 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign not_specified RCV000117571.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1188 0.1171 0.1749 0.1498 0.1784 0.1262 0.0981 0.1122 0.0873 0.1150 0.1035 0.1627 0.1490 0.1681 0.1405 0.1061 0.1222 het 1569.21 110 7 77789403 . A G 1569.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.858;DP=110;Dels=0.00;FS=2.486;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;MQRankSum=-0.527;QD=14.27;ReadPosRankSum=-0.881;VQSLOD=6.2716;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,59:110:99:1599,0,1393 7 78119109 78119109 C T exonic MAGI2 synonymous SNV MAGI2:NM_001301128:exon6:c.G1014A:p.K338K,MAGI2:NM_012301:exon6:c.G1014A:p.K338K 0.32 0.49 0.23 0.23 0.3 0.29 0.2942 0.4332 0.1772 0.2360 0.2843 0.2985 0.3205 0.304 0.35 0.43 0.3 0.21 0.28 rs3735442 COSM5764562;COSM5878557;COSM5764561 1(large_intestine) Likely benign not_specified RCV000117565.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2878 0.4335 0.1924 0.3094 0.2374 0.2830 0.2985 0.3060 0.3018 0.3279 0.4237 0.2208 0.3543 0.2443 0.2877 0.2981 0.2941 het 2180.48 225 7 78119109 . C T 2180.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.443;DP=225;Dels=0.00;FS=2.340;HRun=5;HaplotypeScore=4.8267;MQ=57.95;MQ0=0;MQRankSum=-1.186;QD=9.69;ReadPosRankSum=2.188;VQSLOD=3.5759;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:133,92:225:99:2210,0,3202 7 79833026 79833026 G A exonic GNAI1 synonymous SNV GNAI1:NM_001256414:exon5:c.G312A:p.L104L,GNAI1:NM_002069:exon5:c.G468A:p.L156L 0.0078 0.0008 0.0086 . 0.023 0.0092 0.0156 0.0034 0.0140 0 0.0117 0.0219 0.0167 0.0086 0.016 0.0054 0.021 . 0.0082 rs12721456 COSM3698552 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0151 0.0030 0.0104 0.0348 0 0.0119 0.0203 0.0211 0.0086 0.0119 0.0026 0.0060 0.0267 0 0.0106 0.0192 0.0082 het 573.73 65 7 79833026 . G A 573.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.283;DP=65;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5407;MQ=58.55;MQ0=0;MQRankSum=0.735;QD=8.83;ReadPosRankSum=-0.991;VQSLOD=5.1784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,25:65:99:604,0,1009 7 80088041 80088041 G A exonic GNAT3 synonymous SNV GNAT3:NM_001102386:exon8:c.C1011T:p.D337D 0.47 0.42 0.45 0.74 0.32 0.42 0.4539 0.4634 0.5485 0.7832 0.4703 0.3884 0.4125 0.4361 0.35 0.42 0.32 0.49 . rs2074674 COSM453438;COSM453439 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3899 0.4178 0.4627 0.2359 0.7625 0.4108 0.3171 0.3463 0.3931 0.3955 0.4116 0.4272 0.24 0.7639 0.3995 0.3476 0.3816 het 123.14 21 7 80088041 . G A 123.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.455;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=0.187;QD=5.86;ReadPosRankSum=-0.933;VQSLOD=5.6789;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,7:21:99:153,0,358 7 80374342 80374342 A G exonic SEMA3C synonymous SNV SEMA3C:NM_001350120:exon18:c.T2178C:p.Y726Y,SEMA3C:NM_006379:exon18:c.T2124C:p.Y708Y,SEMA3C:NM_001350121:exon19:c.T1950C:p.Y650Y 0.92 0.73 0.99 1. 0.99 0.95 0.9687 0.7736 0.9864 1 0.9974 0.9912 0.9747 0.9597 0.92 0.78 0.99 0.86 0.99 rs1949971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9734 0.7733 0.9845 0.975 1 0.9963 0.9922 0.9830 0.9592 0.9321 0.7725 0.9833 0.9702 1 0.9980 0.9949 0.9868 hom 5243.71 166 7 80374342 . A G 5243.71 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1148;MQ=59.15;MQ0=0;QD=31.59;VQSLOD=8.8658;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5243,397,0 7 80374438 80374438 T C exonic SEMA3C synonymous SNV SEMA3C:NM_001350120:exon18:c.A2082G:p.P694P,SEMA3C:NM_006379:exon18:c.A2028G:p.P676P,SEMA3C:NM_001350121:exon19:c.A1854G:p.P618P 0.84 0.69 0.9 0.77 0.99 0.94 0.9386 0.7298 0.9096 0.7667 0.9818 0.9897 0.9537 0.9554 0.9 0.74 0.99 0.84 0.99 rs1949972 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9410 0.7269 0.9098 0.9706 0.7661 0.9814 0.9913 0.9593 0.9546 0.9005 0.7226 0.9246 0.9636 0.7432 0.9883 0.9929 0.9745 hom 3527.12 112 7 80374438 . T C 3527.12 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8628;MQ=59.79;MQ0=0;QD=31.49;VQSLOD=9.5477;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3527,295,0 7 80378319 80378319 G C exonic SEMA3C synonymous SNV SEMA3C:NM_001350120:exon17:c.C1791G:p.V597V,SEMA3C:NM_006379:exon17:c.C1737G:p.V579V,SEMA3C:NM_001350121:exon18:c.C1563G:p.V521V 0.85 0.72 0.9 0.77 0.99 0.94 0.9414 0.7589 0.9102 0.7652 0.9820 0.9907 0.9569 0.9538 0.92 0.77 0.99 0.83 0.98 rs2272351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9436 0.7587 0.9111 0.9782 0.7653 0.9821 0.9920 0.9626 0.9533 0.9099 0.7538 0.9284 0.9768 0.7429 0.9880 0.9933 0.9776 hom 1912.41 62 7 80378319 . G C 1912.41 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=57.72;MQ0=0;QD=30.85;VQSLOD=7.5017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1945,147,0 7 81588616 81588616 T G exonic CACNA2D1 nonsynonymous SNV CACNA2D1:NM_000722:exon38:c.A3134C:p.D1045A 0.0018 . 0.0014 . 0.008 . 0.0028 0.0009 0.0007 0 0.0015 0.0045 0.0011 0.0005 0.0051 0.0025 0.0064 0.011 0.0082 rs35131433 . . Benign|Likely benign|Benign Cardiovascular_phenotype|not_specified|Brugada_syndrome RCV000243578.1|RCV000441503.1|RCV000476837.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN230736|CN169374|C1142166:ORPHA130:418818005 . . . . . . 0.114 0.289 T 0.423 0.336 B 0.228 0.364 B 0.000 0.843 D 0.999 0.465 D 1.65 0.424 L 0.09 0.615 T -2.59 0.558 D 0.679 0.751 -0.785 0.561 T 0.174 0.517 T 0.027 0.504 D 2.994 0.420 22.2 0.985 0.418 0.974 0.746 D c 0.215 0.354 1.000 0.747 0.706 0.609 0 5.84 0.934 5.634 0.673 1.061 0.807 1.000 0.715 0.999 0.750 16.213 0.819 . . . 0.0030 0.0009 0.0010 0.0005 0 0.0016 0.0055 0.0022 0.0005 0.0030 0.0011 0.0012 0 0 0.0026 0.0046 0.0031 het 942.20 67 7 81588616 . T G 942.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.888;DP=67;Dels=0.00;FS=2.117;HRun=0;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;MQRankSum=0.807;QD=14.06;ReadPosRankSum=0.680;VQSLOD=5.9864;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,39:67:99:972,0,668 7 82453708 82453708 A C exonic PCLO nonsynonymous SNV PCLO:NM_014510:exon19:c.T14440G:p.S4814A,PCLO:NM_033026:exon19:c.T14440G:p.S4814A 0.4 0.042 0.42 0.69 0.43 0.56 0.4431 0.0955 0.4511 0.6992 0.4658 0.4229 0.4463 0.5833 0.32 0.1 0.42 0.28 . rs2522833 . . . . . . . . . . . . . 0.317 0.137 T 0.013 0.154 B 0.118 0.305 B . . . 0.006 0.421 P -0.235 0.039 N 1.01 0.411 T -0.85 0.232 N 0.111 0.159 -0.971 0.370 T 0.000 0.000 T . . . 2.638 0.378 20.4 0.953 0.261 0.864 0.454 D c -0.081 0.159 0.020 0.132 0.554 0.246 0 5.72 0.893 4.227 0.582 1.140 0.893 0.999 0.424 1.000 0.888 15.993 0.799 C2 domain . . 0.4521 0.0905 0.4548 0.4147 0.7026 0.4742 0.4263 0.4332 0.5815 0.3535 0.1023 0.4353 0.3742 0.7173 0.4788 0.4213 0.4357 het 710.98 87 7 82453708 . A C 710.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.029;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3796;MQ=58.08;MQ0=0;MQRankSum=0.995;QD=8.17;ReadPosRankSum=0.482;VQSLOD=5.2351;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,29:87:99:741,0,1382 7 82581488 82581488 - TCA exonic PCLO nonframeshift insertion PCLO:NM_014510:exon5:c.8780_8781insTGA:p.D2926_E2927insD,PCLO:NM_033026:exon5:c.8780_8781insTGA:p.D2926_E2927insD 0.99 1. 0.99 1. 0.99 0.99 0.9870 0.9986 0.9949 0.9999 0.9776 0.9830 0.9833 0.9881 0.0002 0.0003 0.0001 . . rs10694231 COSM5022158;COSM5022157;COSM5022156;COSM5022155 1(bone);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9871 0.9983 0.9956 0.9945 0.9999 0.9764 0.9827 0.9859 0.9868 0.9853 0.9976 0.9928 0.9967 1 0.9811 0.9772 0.9806 hom 9947.57 166 7 82581488 . T TTCA 9947.57 Mask AC=2;AF=1.00;AN=2;DP=166;FS=0.000;HRun=0;HaplotypeScore=467.0917;MQ=56.30;MQ0=0;QD=59.93;set=variant2 GT:AD:DP:GQ:PL 1/1:10,149:166:99:9948,481,0 7 82581859 82581859 C T exonic PCLO nonsynonymous SNV PCLO:NM_014510:exon5:c.G8410A:p.A2804T,PCLO:NM_033026:exon5:c.G8410A:p.A2804T 0.32 0.1 0.39 0.44 0.36 0.4 0.3614 0.1344 0.4096 0.4952 0.3895 0.3590 0.3363 0.3924 0.29 0.14 0.36 0.22 . rs976714 COSM3762853;COSM3762852;COSM4783666;COSM3762854 1(pancreas);2(large_intestine) . . . . . . . . . . . 0.403 0.104 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 0.625 0.159 N 2.32 0.166 T -0.04 0.076 N 0.012 0.002 -0.905 0.475 T 0.000 0.000 T . . . -0.274 0.070 0.760 0.481 0.039 0.038 0.091 N c -1.480 -1.453 0.000 0.061 0.638 0.428 0 -5.02 0.027 -0.447 0.068 -1.565 0.009 0.001 0.137 0.067 0.174 1.692 0.027 . . . 0.3695 0.1299 0.4132 0.3739 0.4938 0.3910 0.3596 0.3672 0.3910 0.3079 0.1253 0.3840 0.3609 0.5012 0.3981 0.3629 0.3724 het 2263.58 165 7 82581859 . C T 2263.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.473;DP=165;Dels=0.00;FS=0.590;HRun=0;HaplotypeScore=1.5983;MQ=59.57;MQ0=0;MQRankSum=2.258;QD=13.72;ReadPosRankSum=-0.779;VQSLOD=5.8760;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,89:165:99:2294,0,1986 7 82582846 82582846 C T exonic PCLO nonsynonymous SNV PCLO:NM_014510:exon5:c.G7423A:p.V2475I,PCLO:NM_033026:exon5:c.G7423A:p.V2475I 0.32 0.1 0.39 0.44 0.36 0.4 0.3611 0.1331 0.4094 0.4965 0.3893 0.3587 0.3359 0.3925 0.29 0.14 0.36 0.22 . rs10954696 COSM4783657;COSM3762858;COSM3762860;COSM3762859 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(large_intestine) . . . . . . . . . . . 0.422 0.098 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P 0.805 0.203 L 2.37 0.161 T -0.35 0.129 N 0.015 0.003 -0.948 0.413 T 0.000 0.000 T . . . 0.047 0.098 3.049 0.564 0.054 0.167 0.193 N c -0.701 -0.710 0.000 0.038 0.554 0.246 0 2.62 0.302 -1.269 0.029 0.039 0.154 0.000 0.063 0.930 0.404 8.800 0.339 . . . 0.3694 0.1289 0.4128 0.3727 0.4963 0.3912 0.3593 0.3675 0.3909 0.3077 0.1252 0.3831 0.3591 0.5032 0.3983 0.3624 0.3727 het 871.63 99 7 82582846 . C T 871.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.119;DP=99;Dels=0.00;FS=0.794;HRun=0;HaplotypeScore=1.6671;MQ=59.34;MQ0=0;MQRankSum=0.813;QD=8.80;ReadPosRankSum=-0.849;VQSLOD=6.4588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,39:99:99:902,0,1715 7 82764393 82764393 C T exonic PCLO nonsynonymous SNV PCLO:NM_014510:exon3:c.G2473A:p.A825T,PCLO:NM_033026:exon3:c.G2473A:p.A825T 0.0024 . 0.0029 0.001 0.008 0.001 0.0056 0.0004 0.0016 0 0.0448 0.0049 0.0178 0.0010 0.0021 0.0005 0.0028 . . rs61730164 . . . . . . . . . . . . . 0.249 0.172 T 0.091 0.237 B 0.027 0.198 B . . . 0.890 0.279 N 2.125 0.592 M 2.36 0.161 T -0.46 0.150 N 0.059 0.043 -1.082 0.070 T 0.022 0.092 T . . . 2.768 0.394 21.2 0.950 0.254 0.622 0.314 D c -0.033 0.146 0.000 0.058 0.554 0.246 0 3.65 0.408 1.718 0.374 0.935 0.490 0.878 0.307 1.000 0.888 8.755 0.336 . . . 0.0060 0.0007 0.0013 0.0001 0 0.0388 0.0044 0.0064 0.0011 0.0099 0.0011 0.0012 0.0033 0 0.0389 0.0094 0.0183 het 2635.21 196 7 82764393 . C T 2635.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.069;DP=196;DS;Dels=0.00;FS=0.537;HRun=0;HaplotypeScore=4.4810;MQ=59.52;MQ0=0;MQRankSum=1.080;QD=13.44;ReadPosRankSum=0.204;VQSLOD=5.1365;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,99:196:99:2665,0,2793 7 82764425 82764425 C G exonic PCLO nonsynonymous SNV PCLO:NM_014510:exon3:c.G2441C:p.S814T,PCLO:NM_033026:exon3:c.G2441C:p.S814T 0.81 0.69 0.78 0.99 0.68 0.92 0.7546 0.7074 0.8533 0.9932 0.7035 0.6842 0.7628 0.8938 0.69 0.71 0.68 0.76 . rs2877 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.125 0.001 N 2.36 0.161 T 0.81 0.018 N 0.035 0.015 -0.968 0.377 T 0.000 0.000 T . . . -0.602 0.050 0.124 0.239 0.010 0.034 0.084 N c -0.877 -0.684 0.000 0.012 0.554 0.246 0 3.89 0.439 0.242 0.177 0.136 0.221 0.000 0.063 0.816 0.342 1.081 0.015 . . . 0.7552 0.7091 0.8395 0.5804 0.9934 0.7050 0.6886 0.7229 0.8927 0.7128 0.7051 0.8043 0.5596 0.9901 0.7065 0.6854 0.7311 hom 5932.64 182 7 82764425 . C G 5932.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.514;DP=182;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.7404;MQ=58.96;MQ0=0;MQRankSum=1.713;QD=32.60;ReadPosRankSum=1.351;VQSLOD=6.4003;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,181:182:99:5910,448,0 7 82785097 82785097 T C exonic PCLO nonsynonymous SNV PCLO:NM_014510:exon2:c.A860G:p.D287G,PCLO:NM_033026:exon2:c.A860G:p.D287G 0.15 0.12 0.15 0.068 0.27 0.17 0.1909 0.1356 0.1238 0.0549 0.1857 0.2284 0.1993 0.1916 0.19 0.13 0.23 0.11 . rs61741659 . . . . . . . . . . . . . 0.145 0.251 T 0.021 0.172 B 0.013 0.154 B . . . 0.935 0.269 P 1.04 0.263 L 2.07 0.204 T -1.31 0.328 N 0.174 0.297 -1.009 0.272 T 0.000 0.000 T . . . 1.335 0.224 12.45 0.941 0.237 0.845 0.433 D c -0.287 -0.145 0.003 0.097 0.615 0.372 0 4.08 0.467 1.395 0.339 0.789 0.320 0.877 0.307 0.985 0.512 9.685 0.391 . . . 0.1875 0.1362 0.1302 0.1342 0.0523 0.1864 0.2366 0.2017 0.1900 0.1831 0.1401 0.1313 0.1556 0.0555 0.1856 0.2257 0.1718 het 1222.93 82 7 82785097 . T C 1222.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.263;DP=82;Dels=0.00;FS=5.690;HRun=1;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=0.488;QD=14.91;ReadPosRankSum=0.609;VQSLOD=5.5421;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,44:82:99:1253,0,996 7 83037751 83037751 C A exonic SEMA3E synonymous SNV SEMA3E:NM_001178129:exon6:c.G423T:p.A141A,SEMA3E:NM_012431:exon6:c.G603T:p.A201A 0.56 0.13 0.68 0.84 0.6 0.7 0.6078 0.2068 0.7331 0.8791 0.6661 0.5942 0.6228 0.6620 0.46 0.22 0.59 0.48 0.59 rs2722985 COSM3762861 1(large_intestine) Benign not_specified RCV000246563.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6165 0.1993 0.7074 0.4379 0.8790 0.6709 0.5992 0.5959 0.6618 0.5145 0.2081 0.6691 0.4233 0.8672 0.6770 0.6028 0.6273 het 1535.17 117 7 83037751 . C A 1535.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.567;DP=117;Dels=0.00;FS=3.434;HRun=0;HaplotypeScore=0.7887;MQ=59.68;MQ0=0;MQRankSum=0.348;QD=13.12;ReadPosRankSum=-1.077;VQSLOD=6.5321;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,57:117:99:1565,0,1417 7 83590852 83590852 T C exonic SEMA3A synonymous SNV SEMA3A:NM_006080:exon17:c.A2151G:p.T717T 0.61 0.47 0.69 0.69 0.64 0.63 0.6132 0.4959 0.6580 0.7030 0.5498 0.6242 0.6101 0.5899 0.58 0.49 0.63 0.5 0.63 rs797821 . . Benign not_specified RCV000175195.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6159 0.4937 0.6557 0.6306 0.7053 0.5488 0.6258 0.6213 0.5901 0.5750 0.4938 0.6527 0.6656 0.7143 0.5536 0.6056 0.5804 hom 3396.15 105 7 83590852 . T C 3396.15 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=59.16;MQ0=0;QD=32.34;VQSLOD=9.5994;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3396,283,0 7 86800351 86800351 A G exonic DMTF1 synonymous SNV DMTF1:NM_001142326:exon4:c.A9G:p.A3A,DMTF1:NM_001142327:exon5:c.A273G:p.A91A,DMTF1:NM_021145:exon7:c.A273G:p.A91A 0.79 0.82 0.79 0.61 0.89 0.81 0.8211 0.8190 0.6399 0.6293 0.8743 0.8701 0.8612 0.8275 0.85 0.82 0.86 0.78 0.84 rs3747807 COSM4162484;COSM4162483 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8177 0.8197 0.6602 0.8959 0.6354 0.8709 0.8717 0.8314 0.8280 0.8483 0.8333 0.6926 0.8742 0.6706 0.8759 0.8774 0.8551 het 714.30 85 7 86800351 . A G 714.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.454;DP=85;Dels=0.00;FS=3.039;HRun=0;HaplotypeScore=2.9128;MQ=58.22;MQ0=0;MQRankSum=0.385;QD=8.40;ReadPosRankSum=-2.653;VQSLOD=3.9889;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,32:85:99:744,0,1400 7 87079406 87079406 T A exonic ABCB4 synonymous SNV ABCB4:NM_000443:exon8:c.A711T:p.I237I,ABCB4:NM_018849:exon8:c.A711T:p.I237I,ABCB4:NM_018850:exon8:c.A711T:p.I237I 0.26 0.34 0.21 0.27 0.19 0.25 0.2101 0.3119 0.2126 0.2739 0.2069 0.1784 0.1971 0.2411 0.22 0.31 0.18 0.32 0.17 rs2109505 COSM3982275 2(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Progressive_intrahepatic_cholestasis|Familial_Intrahepatic_Cholestasis RCV000247989.3|RCV000275204.1|RCV000385962.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0268312:211600:ORPHA172:74162007|CN239338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2070 0.3149 0.2027 0.2006 0.2612 0.1985 0.1770 0.2080 0.2445 0.2227 0.3068 0.1950 0.1821 0.2618 0.1949 0.1802 0.1963 het 1452.96 132 7 87079406 . T A 1452.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.585;DP=132;Dels=0.00;FS=5.538;HRun=1;HaplotypeScore=2.0463;MQ=58.82;MQ0=0;MQRankSum=-1.262;QD=11.01;ReadPosRankSum=-0.328;VQSLOD=4.5969;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,63:132:99:1483,0,1655 7 87092185 87092185 G A exonic ABCB4 synonymous SNV ABCB4:NM_000443:exon4:c.C175T:p.L59L,ABCB4:NM_018849:exon4:c.C175T:p.L59L,ABCB4:NM_018850:exon4:c.C175T:p.L59L 0.25 0.49 0.17 0.2 0.15 0.14 0.1752 0.4432 0.1764 0.2063 0.1444 0.1418 0.1689 0.1372 0.24 0.43 0.15 0.34 0.14 rs2302387 . . Benign|Benign|Benign not_specified|Progressive_intrahepatic_cholestasis|Familial_Intrahepatic_Cholestasis RCV000245179.2|RCV000340525.1|RCV000400898.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0268312:211600:ORPHA172:74162007|CN239338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1694 0.4488 0.1671 0.1903 0.1948 0.1402 0.1395 0.1728 0.1409 0.2271 0.4392 0.1635 0.1788 0.1898 0.1370 0.1380 0.1578 het 857.04 92 7 87092185 . G A 857.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.696;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8619;MQ=58.83;MQ0=0;MQRankSum=-0.630;QD=9.32;ReadPosRankSum=0.309;VQSLOD=5.7599;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,39:92:99:887,0,1299 7 87138645 87138645 A G exonic ABCB1 synonymous SNV ABCB1:NM_001348946:exon26:c.T3435C:p.I1145I,ABCB1:NM_000927:exon27:c.T3435C:p.I1145I,ABCB1:NM_001348944:exon28:c.T3435C:p.I1145I,ABCB1:NM_001348945:exon30:c.T3645C:p.I1215I 0.6 0.85 0.57 0.6 0.48 0.43 0.5034 0.7980 0.5467 0.6245 0.3895 0.4719 0.4890 0.3981 0.58 0.77 0.48 0.65 0.44 rs1045642 . . Benign|drug response|drug response|drug response|drug response|drug response|drug response|drug response|drug response|drug response|drug response|not provided MDR1_POLYMORPHISM|ondansetron_response_-_Efficacy|oxycodone_response_-_Dosage|methadone_response_-_Dosage|methotrexate_response_-_Toxicity/ADR|nevirapine_response_-_Toxicity/ADR|tramadol_response_-_Dosage|morphine_response_-_Dosage|digoxin_response_-_Other|opioids_response_-_Dosage|fentanyl_response_-_Dosage|Non-small_cell_lung_cancer RCV000014699.2|RCV000211142.1|RCV000211170.1|RCV000211173.1|RCV000211266.1|RCV000211276.1|RCV000211291.1|RCV000211300.1|RCV000211363.1|RCV000211388.1|RCV000211389.1|RCV000441548.1 MedGen|MedGen|MedGen|MedGen|MedGen|MedGen|MedGen|MedGen|MedGen|MedGen|MeSH:MedGen:SNOMED_CT CN236569|CN236540|CN236536|CN236607|CN236609|CN236548|CN236537|CN236525|CN236539|CN236531|D002289:C0007131:254637007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5022 0.8038 0.5467 0.6434 0.6327 0.3867 0.4664 0.5206 0.3951 0.5614 0.7937 0.5382 0.6510 0.6348 0.3846 0.4651 0.4693 het 2594.21 250 7 87138645 . A G 2594.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.738;DP=250;DS;Dels=0.00;FS=1.033;HRun=0;HaplotypeScore=4.8044;MQ=59.49;MQ0=0;MQRankSum=1.578;QD=10.38;ReadPosRankSum=-0.286;VQSLOD=5.1067;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,108:250:99:2624,0,3902 7 87160618 87160618 A C exonic ABCB1 nonsynonymous SNV ABCB1:NM_001348946:exon21:c.T2677G:p.S893A,ABCB1:NM_000927:exon22:c.T2677G:p.S893A,ABCB1:NM_001348944:exon23:c.T2677G:p.S893A,ABCB1:NM_001348945:exon25:c.T2887G:p.S963A 0.62 0.98 0.57 0.47 0.57 0.36 0.5432 0.9101 0.5395 0.4653 0.4700 0.5523 0.5187 0.3496 0.68 0.89 0.57 0.66 0.54 rs2032582 . . Benign|drug response|drug response\x2cBenign|not provided not_specified|ondansetron_response_-_Efficacy|simvastatin_response_-_Efficacy\x2cnot_specified|Ovarian_Neoplasms RCV000152717.3|RCV000211207.1|RCV000211425.1\x2cRCV000152713.3|RCV000429867.1 MedGen|MedGen|MedGen\x2cMedGen|MeSH:MedGen CN169374|CN236569|CN236582\x2cCN169374|D010051:CN236629 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.005 0.104 B 0.000 0.463 N 0.999 0.216 P -1.02 0.011 N -2.24 0.872 D 1.67 0.006 N 0.046 0.040 -0.903 0.477 T 0.000 0.000 T . . . 0.796 0.170 9.437 0.332 0.020 0.315 0.241 N c -0.825 -0.546 0.008 0.116 0.615 0.372 0 3.72 0.417 2.216 0.423 -0.466 0.054 1.000 0.715 0.985 0.512 14.563 0.676 ABC transporter type 1\x2c transmembrane domain ENSG00000105784.11|ENSG00000085563.10 Heart_Atrial_Appendage|Testis 0.5368 0.9196 0.5453 0.6239 0.4753 0.4685 0.5483 0.5587 0.3482 0.6373 0.9138 0.5649 0.6391 0.5013 0.4754 0.5384 0.5459 hom 1979.65 127 7 87160618 . A C 1979.65 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.118;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4048;MQ=58.86;MQ0=0;MQRankSum=-0.671;QD=15.59;ReadPosRankSum=0.168;VQSLOD=5.8429;culprit=QD;set=variant GT:AD:DP:GQ:PL 1/1:1,61:127:99:2013,123,0 7 87179601 87179601 A G exonic ABCB1 synonymous SNV ABCB1:NM_001348946:exon12:c.T1236C:p.G412G,ABCB1:NM_000927:exon13:c.T1236C:p.G412G,ABCB1:NM_001348944:exon14:c.T1236C:p.G412G,ABCB1:NM_001348945:exon16:c.T1446C:p.G482G 0.58 0.86 0.6 0.37 0.58 0.41 0.5419 0.8062 0.4965 0.3590 0.5112 0.5726 0.5077 0.3932 0.64 0.78 0.57 0.62 0.54 rs1128503 COSM5618791 1(breast) Benign not_specified RCV000174498.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5354 0.8122 0.5080 0.6332 0.3575 0.5111 0.5678 0.5536 0.3929 0.6136 0.8084 0.5334 0.6324 0.3470 0.5189 0.5594 0.5481 hom 3049.76 100 7 87179601 . A G 3049.76 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.81;MQ0=0;QD=30.50;VQSLOD=9.0260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3083,241,0 7 87229501 87229501 T C exonic ABCB1 synonymous SNV ABCB1:NM_001348945:exon6:c.A210G:p.G70G 0.98 1. 0.98 1. 0.91 0.99 0.9445 0.9861 0.9804 0.9999 0.9119 0.9170 0.9490 0.9879 0.94 0.98 0.92 0.96 0.84 rs2214102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9463 0.9863 0.9776 0.9674 0.9999 0.9107 0.9171 0.9416 0.9883 0.9414 0.9818 0.9665 0.9636 0.9994 0.9095 0.9189 0.9163 het 711.49 72 7 87229501 . T C 711.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.320;DP=72;Dels=0.00;FS=0.968;HRun=2;HaplotypeScore=4.6071;MQ=59.68;MQ0=0;MQRankSum=-0.728;QD=9.88;ReadPosRankSum=0.466;VQSLOD=5.3190;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,31:72:99:741,0,1105 7 87537177 87537177 A G exonic DBF4 nonsynonymous SNV DBF4:NM_001318060:exon11:c.A1025G:p.H342R,DBF4:NM_001318061:exon12:c.A1052G:p.H351R,DBF4:NM_001318062:exon12:c.A944G:p.H315R,DBF4:NM_006716:exon12:c.A1724G:p.H575R 0.065 0.1 0.075 0.086 0.021 0.031 0.0450 0.0846 0.0814 0.1025 0.0472 0.0286 0.0368 0.0308 0.043 0.074 0.027 0.087 0.016 rs2041049 . . . . . . . . . . . . . 0.743 0.037 T 0.0 0.026 B 0.0 0.013 B 0.239 0.157 N 1 0.090 P 0.535 0.137 N 1.5 0.312 T -1.55 0.375 N 0.043 0.023 -1.012 0.262 T 0.002 0.006 T . . . -0.398 0.062 0.392 0.683 0.083 0.052 0.109 N c -0.915 -0.875 0.927 0.268 0.706 0.609 0 -1.35 0.086 0.132 0.156 0.234 0.260 0.000 0.063 0.995 0.604 11.735 0.508 . . . 0.0453 0.0841 0.0762 0.0423 0.0991 0.0445 0.0268 0.0368 0.0320 0.0497 0.0851 0.0585 0.0331 0.0956 0.0446 0.0261 0.0357 het 1306.68 100 7 87537177 . A G 1306.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.020;DP=100;Dels=0.00;FS=5.439;HRun=0;HaplotypeScore=5.8946;MQ=56.51;MQ0=0;MQRankSum=-0.073;QD=13.07;ReadPosRankSum=1.636;VQSLOD=2.5872;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,46:100:99:1337,0,1341 7 87564497 87564497 C G exonic ADAM22 nonsynonymous SNV ADAM22:NM_001324417:exon2:c.C239G:p.P80R,ADAM22:NM_001324418:exon2:c.C242G:p.P81R,ADAM22:NM_001324419:exon2:c.C239G:p.P80R,ADAM22:NM_001324420:exon2:c.C242G:p.P81R,ADAM22:NM_001324421:exon2:c.C242G:p.P81R,ADAM22:NM_004194:exon2:c.C242G:p.P81R,ADAM22:NM_016351:exon2:c.C242G:p.P81R,ADAM22:NM_021721:exon2:c.C242G:p.P81R,ADAM22:NM_021722:exon2:c.C242G:p.P81R,ADAM22:NM_021723:exon2:c.C242G:p.P81R 0.63 0.98 0.63 0.54 0.52 0.36 0.5761 0.9155 0.6086 0.5940 0.5760 0.5606 0.5456 0.4147 0.64 0.89 0.52 0.65 0.43 rs2279542 COSM3750054;COSM3750055;COSM3750053 1(thyroid);7(large_intestine) . . . . . . . . . . . 0.673 0.116 T 0.001 0.090 B 0.007 0.133 B 0.154 0.030 N 1 0.090 P 0.895 0.225 L 4.56 0.157 T 0.36 0.336 N 0.019 0.213 -0.989 0.329 T 0.000 0.000 T . . . 0.270 0.120 5.395 0.794 0.123 0.002 0.009 N c -1.485 -1.538 1.000 0.747 0.658 0.486 0 -5.26 0.025 -0.991 0.038 -0.862 0.028 0.000 0.063 0.089 0.185 1.067 0.015 Peptidase M12B\x2c propeptide . . 0.5366 0.9219 0.5598 0.5708 0.5514 0.5376 0.5205 0.5475 0.3682 0.6326 0.9149 0.5837 0.5894 0.5225 0.5371 0.5115 0.5466 hom 1263.27 37 7 87564497 . C G 1263.27 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.14;VQSLOD=13.4248;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1296,102,0 7 87913361 87913361 C T exonic STEAP4 nonsynonymous SNV STEAP4:NM_001205316:exon2:c.G224A:p.G75D,STEAP4:NM_024636:exon2:c.G224A:p.G75D,STEAP4:NM_001205315:exon3:c.G224A:p.G75D 0.85 0.99 0.78 0.91 0.73 0.78 0.7779 0.9539 0.7995 0.8976 0.7274 0.7389 0.7611 0.7742 0.81 0.94 0.74 0.89 0.76 rs1981529 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.024 0.263 N 1 0.090 P -2.77 0.000 N 3.37 0.059 T 2.45 0.003 N 0.104 0.109 -1.002 0.292 T 0.000 0.000 T . . . -0.307 0.068 0.640 0.604 0.063 0.006 0.027 N c -1.219 -0.922 0.640 0.220 0.487 0.133 0 4.76 0.600 0.753 0.259 0.154 0.240 0.001 0.137 0.960 0.441 7.326 0.256 NAD(P)-binding domain|Pyrroline-5-carboxylate reductase\x2c catalytic\x2c N-terminal . . 0.7756 0.9577 0.7965 0.7535 0.8995 0.7223 0.7399 0.7480 0.7727 0.8061 0.9506 0.7936 0.7318 0.9017 0.7198 0.7372 0.7536 hom 3569.44 115 7 87913361 . C T 3569.44 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=59.60;MQ0=0;QD=31.04;VQSLOD=9.2022;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3569,295,0 7 88956699 88956699 A G exonic ZNF804B synonymous SNV ZNF804B:NM_181646:exon3:c.A291G:p.V97V 0.31 0.19 0.27 0.67 0.17 0.25 0.2311 0.2012 0.3633 0.7041 0.1803 0.1661 0.1817 0.1962 0.18 0.2 0.17 0.26 0.16 rs38971 COSM4966403 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2344 0.2015 0.3379 0.2023 0.6995 0.1755 0.1645 0.2019 0.1932 0.2068 0.1972 0.2880 0.1987 0.6943 0.1690 0.1664 0.1871 het 673.97 49 7 88956699 . A G 673.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.442;DP=49;Dels=0.00;FS=1.155;HRun=1;HaplotypeScore=0.8941;MQ=53.69;MQ0=0;MQRankSum=1.055;QD=13.75;ReadPosRankSum=-0.070;VQSLOD=2.4199;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:22,27:49:99:704,0,519 7 88964000 88964000 C T exonic ZNF804B synonymous SNV ZNF804B:NM_181646:exon4:c.C1704T:p.F568F 0.51 0.73 0.34 0.72 0.23 0.4 0.3390 0.6611 0.4046 0.6855 0.2258 0.2299 0.2958 0.3986 0.37 0.64 0.23 0.53 0.23 rs801839 COSM3762873 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3327 0.6657 0.3838 0.2706 0.6843 0.2278 0.2274 0.3138 0.3954 0.3710 0.6480 0.3696 0.3079 0.6612 0.2215 0.2221 0.2689 hom 901.46 30 7 88964000 . C T 901.46 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.05;VQSLOD=13.6015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:72.23:934,72,0 7 88964196 88964196 T A exonic ZNF804B nonsynonymous SNV ZNF804B:NM_181646:exon4:c.T1900A:p.F634I 0.52 0.77 0.34 0.72 0.23 0.4 0.3432 0.7003 0.4080 0.6880 0.2259 0.2301 0.2969 0.3986 0.39 0.68 0.24 0.58 0.23 rs801840 COSM3762874 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(large_intestine) . . . . . . . . . . . 0.108 0.294 T 0.0 0.026 B 0.0 0.013 B 0.001 0.421 D 1.000 0.090 P 0 0.065 N 3.73 0.040 T 0.41 0.034 N 0.067 0.054 -1.081 0.070 T 0.000 0.000 T . . . 0.403 0.133 6.642 0.945 0.244 0.131 0.175 N c -0.711 -0.545 0.812 0.244 0.487 0.133 0 4.33 0.509 4.156 0.577 0.242 0.267 1.000 0.715 0.201 0.217 7.850 0.284 . . . 0.3361 0.7079 0.3863 0.2701 0.6862 0.2277 0.2278 0.3161 0.3954 0.3854 0.6958 0.3753 0.3079 0.6623 0.2218 0.2230 0.2695 hom 1679.77 56 7 88964196 . T A 1679.77 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=30.00;VQSLOD=9.3647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1713,138,0 7 88965021 88965021 G A exonic ZNF804B nonsynonymous SNV ZNF804B:NM_181646:exon4:c.G2725A:p.E909K 0.054 0.003 0.058 0.084 0.099 0.041 0.0813 0.0183 0.0362 0.0580 0.1296 0.1033 0.0925 0.0555 0.079 0.024 0.11 0.043 0.082 rs10487075 . . . . . . . . . . . . . 0.011 0.555 D 0.002 0.090 B 0.004 0.093 B 0.288 0.039 N 1 0.090 N 1.975 0.537 M 3.52 0.049 T -0.87 0.236 N 0.044 0.024 -0.972 0.367 T 0.000 0.002 T . . . 0.885 0.178 9.976 0.975 0.335 0.136 0.177 N c -0.782 -0.795 0.000 0.012 0.487 0.133 0 2.02 0.255 0.387 0.203 1.048 0.713 0.001 0.137 0.203 0.218 6.800 0.228 . . . 0.0824 0.0164 0.0400 0.0848 0.0587 0.1280 0.1053 0.0967 0.0557 0.0779 0.0180 0.0477 0.0894 0.0454 0.1194 0.1075 0.0855 het 1689.52 136 7 88965021 . G A 1689.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.586;DP=136;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.9463;MQ=57.77;MQ0=0;MQRankSum=3.527;QD=12.42;ReadPosRankSum=0.042;VQSLOD=2.4729;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,69:136:99:1720,0,1857 7 89854446 89854446 T G exonic STEAP2 nonsynonymous SNV STEAP2:NM_001244945:exon2:c.T50G:p.F17C,STEAP2:NM_152999:exon2:c.T50G:p.F17C,STEAP2:NM_001040665:exon3:c.T50G:p.F17C,STEAP2:NM_001040666:exon3:c.T50G:p.F17C,STEAP2:NM_001244944:exon3:c.T50G:p.F17C,STEAP2:NM_001244946:exon3:c.T50G:p.F17C 0.34 0.29 0.39 0.18 0.51 0.35 0.4686 0.3246 0.4175 0.1921 0.5835 0.5455 0.4812 0.3821 0.46 0.34 0.53 0.37 0.54 rs194520 COSM3762884;COSM3762885 1(breast);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.13 0.357 T 0.999 0.764 D 0.995 0.818 D 0.000 0.629 D 0.000 0.588 P 0.895 0.225 L 2.1 0.361 T -0.41 0.202 N 0.372 0.447 -0.903 0.477 T 0.000 0.000 T . . . 3.881 0.523 23.5 0.978 0.352 0.958 0.662 D c 0.481 0.554 1.000 0.747 0.507 0.198 0 5.83 0.930 5.031 0.637 1.061 0.807 1.000 0.715 0.998 0.697 16.213 0.819 . ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000164647.4|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000157214.9|ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105792.15|ENSG00000164647.4|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000164647.4|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000235436.6|ENSG00000157214.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid 0.4671 0.3235 0.4123 0.4536 0.1875 0.5868 0.5471 0.4828 0.3798 0.4715 0.3148 0.4593 0.4636 0.1862 0.5731 0.5659 0.5397 hom 4253.11 132 7 89854446 . T G 4253.11 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=32.22;VQSLOD=9.4236;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4253,328,0 7 89856608 89856608 C T exonic STEAP2 synonymous SNV STEAP2:NM_001244945:exon3:c.C816T:p.L272L,STEAP2:NM_152999:exon3:c.C816T:p.L272L,STEAP2:NM_001040665:exon4:c.C816T:p.L272L,STEAP2:NM_001040666:exon4:c.C816T:p.L272L,STEAP2:NM_001244944:exon4:c.C816T:p.L272L,STEAP2:NM_001244946:exon4:c.C816T:p.L272L 0.44 0.47 0.45 0.26 0.51 0.49 0.5104 0.4900 0.4855 0.2716 0.5854 0.5463 0.4978 0.4915 0.52 0.49 0.53 0.47 0.55 rs110360 COSM453529;COSM1488756 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5064 0.4914 0.4783 0.4534 0.2632 0.5885 0.5481 0.5046 0.4876 0.5262 0.4810 0.5180 0.4667 0.2683 0.5753 0.5682 0.5592 hom 2819.69 91 7 89856608 . C T 2819.69 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8624;MQ=58.19;MQ0=0;QD=30.99;VQSLOD=8.2583;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:91:99:2853,226,0 7 89861832 89861832 G A exonic STEAP2 nonsynonymous SNV STEAP2:NM_152999:exon5:c.G1367A:p.R456Q,STEAP2:NM_001040665:exon6:c.G1367A:p.R456Q,STEAP2:NM_001244944:exon6:c.G1367A:p.R456Q 0.33 0.27 0.39 0.18 0.51 0.34 0.4660 0.3098 0.4156 0.1919 0.5827 0.5451 0.4790 0.3760 0.46 0.33 0.53 0.36 0.49 rs194524 COSM3762888 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.078 0.339 T 0.003 0.102 B 0.006 0.112 B 0.001 0.405 N 0.720 0.588 P 2.05 0.567 M 3.47 0.052 T -1.26 0.318 N 0.116 0.127 -0.973 0.365 T 0.000 0.000 T . . . 3.257 0.450 22.8 0.996 0.743 0.857 0.446 D c -0.196 -0.097 1.000 0.747 0.615 0.372 0 1.91 0.247 1.985 0.401 0.126 0.213 1.000 0.715 0.997 0.653 8.865 0.343 . ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000164647.4|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105792.15|ENSG00000164647.4|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000235436.6|ENSG00000157214.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid 0.4648 0.3087 0.4110 0.4535 0.1874 0.5860 0.5467 0.4815 0.3726 0.4682 0.3023 0.4591 0.4636 0.1861 0.5740 0.5668 0.5389 hom 1119.48 34 7 89861832 . G A 1119.48 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=32.93;VQSLOD=9.2752;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:90.28:1152,90,0 7 89861890 89861890 G T exonic STEAP2 nonsynonymous SNV STEAP2:NM_152999:exon5:c.G1425T:p.M475I,STEAP2:NM_001040665:exon6:c.G1425T:p.M475I,STEAP2:NM_001244944:exon6:c.G1425T:p.M475I 0.94 0.97 0.9 1. 0.87 0.96 0.8932 0.9540 0.9117 0.9991 0.8998 0.8554 0.8907 0.9371 0.88 0.95 0.85 0.96 0.89 rs194525 . . . . . . . . . . . . . 0.787 0.032 T 0.0 0.026 B 0.001 0.040 B 0.728 0.099 N 1 0.090 P 0 0.065 N 3.61 0.045 T -0.41 0.140 N 0.053 0.051 -0.994 0.316 T 0.000 0.000 T . . . 0.805 0.171 9.494 0.866 0.161 0.019 0.058 N c -0.871 -0.723 1.000 0.747 0.615 0.372 0 3.79 0.426 0.400 0.205 -0.286 0.084 0.401 0.259 0.942 0.416 7.652 0.274 . ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8919 0.9560 0.9082 0.8474 0.9994 0.8997 0.8523 0.8800 0.9359 0.9008 0.9519 0.8935 0.8411 1 0.8895 0.8646 0.8980 hom 821.92 26 7 89861890 . G T 821.92 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=31.61;VQSLOD=9.4222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:69.20:855,69,0 7 89912301 89912301 G A exonic CFAP69 nonsynonymous SNV CFAP69:NM_001039706:exon13:c.G1468A:p.V490M,CFAP69:NM_001160138:exon13:c.G1414A:p.V472M 0.88 0.88 0.85 0.99 0.79 0.9 0.8295 0.8566 0.8838 0.9969 0.8651 0.7830 0.8189 0.8619 0.8 0.86 0.77 0.88 0.82 rs1029365 COSM3762889;COSM3762890 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.007 0.144 B 0.012 0.149 B 0.000 0.629 N 1.000 0.203 P -0.95 0.013 N 0.74 0.505 T 0.23 0.051 N 0.114 0.175 -0.951 0.409 T 0.000 0.000 T . . . 1.576 0.251 13.72 0.100 0.001 0.442 0.270 N c -0.929 -0.637 0.001 0.074 0.638 0.428 0 4.23 0.492 1.581 0.359 0.126 0.213 0.999 0.424 0.997 0.653 7.204 0.249 Armadillo-type fold ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105792.15|ENSG00000164647.4|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000105793.11|ENSG00000157214.9|ENSG00000225498.1|ENSG00000235436.6|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.8254 0.8554 0.8675 0.7809 0.9977 0.8642 0.7728 0.8095 0.8578 0.8307 0.8503 0.8529 0.7781 1 0.8597 0.7935 0.8411 hom 2712.52 81 7 89912301 . G A 2712.52 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.14;MQ0=0;QD=33.49;VQSLOD=9.8994;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2746,226,0 7 89938588 89938588 C G exonic CFAP69 nonsynonymous SNV CFAP69:NM_001039706:exon22:c.C2562G:p.S854R,CFAP69:NM_001160138:exon22:c.C2508G:p.S836R 0.92 0.89 0.9 1. 0.87 0.95 0.8841 0.8836 0.9073 0.9989 0.9057 0.8520 0.8891 0.9285 0.86 0.88 0.84 0.92 0.83 rs7803620 . . . . . . . . . . . . . 1.0 0.021 T 0.0 0.026 B 0.001 0.040 B 0.047 0.233 N 1 0.090 P -2.35 0.001 N 2.59 0.213 T 1.04 0.013 N 0.032 0.267 -1.006 0.282 T 0.000 0.000 T . . . -0.273 0.070 0.763 0.591 0.060 0.054 0.111 N c -1.606 -1.379 0.001 0.078 0.554 0.246 0 -1.07 0.094 0.423 0.209 -2.443 0.003 0.975 0.345 0.768 0.327 2.532 0.044 . ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8816 0.8835 0.8989 0.8414 0.9991 0.9076 0.8486 0.8731 0.9283 0.8803 0.8814 0.8885 0.8411 1 0.8986 0.8616 0.8967 hom 1493.33 46 7 89938588 . C G 1493.33 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=32.46;VQSLOD=9.6698;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1526,117,0 7 89938680 89938680 C T exonic CFAP69 nonsynonymous SNV CFAP69:NM_001039706:exon22:c.C2654T:p.T885M,CFAP69:NM_001160138:exon22:c.C2600T:p.T867M 0.38 0.29 0.4 0.2 0.56 0.5 0.5071 0.3329 0.3781 0.2094 0.6061 0.5886 0.5305 0.4847 0.5 0.35 0.57 0.4 0.58 rs1134956 COSM3762892;COSM3762891 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.007 0.599 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.520 P 2.685 0.788 M 1.49 0.551 T -3.59 0.721 D 0.27 0.563 -0.886 0.493 T 0.000 0.000 T . . . 7.283 0.948 34 0.999 0.966 0.957 0.656 D c 0.767 0.736 1.000 0.432 0.638 0.428 0 5.51 0.817 4.429 0.594 0.038 0.153 1.000 0.715 0.976 0.476 19.421 0.947 . ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000164647.4|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105792.15|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000157214.9|ENSG00000164647.4|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000235436.6|ENSG00000157214.9|ENSG00000225498.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Uterus 0.5103 0.3348 0.3898 0.5062 0.2104 0.6107 0.5900 0.5284 0.4843 0.4993 0.3269 0.4270 0.5 0.2144 0.6003 0.6058 0.5745 hom 1715.27 60 7 89938680 . C T 1715.27 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.35;MQ0=0;QD=28.59;VQSLOD=8.7033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1748,132,0 7 89983808 89983808 T G exonic GTPBP10 nonsynonymous SNV GTPBP10:NM_033107:exon3:c.T264G:p.C88W 0.8 0.73 0.8 0.89 0.82 0.79 0.8097 0.7319 0.8289 0.8944 0.8646 0.8081 0.8319 0.7844 0.77 0.73 0.79 0.81 0.8 rs42663 . . . . . . . . . . . . . 0.192 0.214 T 0.959 0.532 D 0.542 0.555 P 0.036 0.245 N 0.000 0.588 P 2.505 0.732 M 1.99 0.217 T -2.21 0.514 N 0.179 0.291 -1.097 0.044 T 0.000 0.000 T . . . 3.958 0.533 23.6 0.990 0.491 0.941 0.598 D c 0.144 0.131 0.183 0.179 0.732 0.924 0 3.22 0.359 1.539 0.355 1.061 0.807 1.000 0.715 0.999 0.750 5.858 0.179 GTP1/OBG domain ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000164647.4|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000157214.9|ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000235436.6|ENSG00000157214.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.8069 0.7245 0.8124 0.8134 0.8932 0.8643 0.7984 0.8141 0.7788 0.7992 0.7269 0.8092 0.8146 0.8993 0.8546 0.8146 0.8323 hom 1979.48 68 7 89983808 . T G 1979.48 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=29.11;VQSLOD=8.4991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2012,153,0 7 89984409 89984409 A G exonic GTPBP10 nonsynonymous SNV GTPBP10:NM_033107:exon4:c.A329G:p.N110S 0.51 0.31 0.53 0.65 0.55 0.59 0.5684 0.3517 0.5903 0.6333 0.6130 0.5864 0.5563 0.5644 0.5 0.36 0.57 0.53 0.57 rs42664 COSM3762893 1(large_intestine) . . . . . . . . . . . 0.12 0.349 T 0.01 0.302 B 0.04 0.362 B 0.000 0.843 D 0.000 0.810 P 0.285 0.101 N 2.04 0.208 T -3.35 0.664 D 0.037 0.097 -0.982 0.347 T 0.000 0.000 T . . . 2.390 0.348 18.76 0.989 0.475 0.983 0.810 D c 0.024 0.229 1.000 0.747 0.651 0.465 0 5.93 0.959 6.556 0.736 1.199 0.960 1.000 0.715 0.998 0.697 16.384 0.833 GTP1/OBG domain ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000105792.15|ENSG00000164647.4|ENSG00000105793.11|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000157214.9|ENSG00000164647.4|ENSG00000157214.9|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000225498.1|ENSG00000105793.11|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000157214.9|ENSG00000225498.1|ENSG00000157214.9|ENSG00000105793.11|ENSG00000225498.1|ENSG00000235436.6|ENSG00000157214.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid 0.5718 0.3467 0.5851 0.5131 0.6381 0.6167 0.5867 0.5696 0.5644 0.5299 0.3411 0.5931 0.5 0.6429 0.6046 0.6028 0.5982 hom 2474.94 82 7 89984409 . A G 2474.94 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;QD=30.18;VQSLOD=9.1248;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2508,190,0 7 91503228 91503228 C T exonic MTERF1 nonsynonymous SNV MTERF1:NM_001301134:exon2:c.G820A:p.A274T,MTERF1:NM_006980:exon3:c.G880A:p.A294T,MTERF1:NM_001301135:exon4:c.G820A:p.A274T 0.4 0.19 0.5 0.46 0.52 0.43 0.4664 0.2354 0.5791 0.4283 0.5100 0.4875 0.4712 0.4490 0.41 0.24 0.49 0.39 0.5 rs10266424 . . . . . . . . . . . . . 0.864 0.026 T 0.0 0.026 B 0.0 0.013 B 0.567 0.113 N 1 0.090 P -1.01 0.011 N 2.69 0.123 T 0.72 0.021 N 0.029 0.010 -0.949 0.411 T 0.000 0.000 T . . . -1.296 0.022 0.005 0.363 0.023 0.007 0.029 N c -1.660 -1.596 0.029 0.139 0.615 0.372 0 -4.14 0.036 -0.697 0.052 -0.792 0.032 0.000 0.063 0.854 0.356 6.537 0.214 . ENSG00000001630.11 Muscle_Skeletal 0.4751 0.2266 0.5703 0.3521 0.4327 0.5049 0.4980 0.4828 0.4524 0.4282 0.2432 0.5477 0.3767 0.4255 0.5143 0.5070 0.4785 hom 2218.62 72 7 91503228 . C T 2218.62 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9954;MQ=59.36;MQ0=0;QD=30.81;VQSLOD=9.3307;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2252,181,0 7 91632306 91632306 C T exonic AKAP9 synonymous SNV AKAP9:NM_005751:exon8:c.C3075T:p.T1025T,AKAP9:NM_147185:exon8:c.C3075T:p.T1025T 0.94 0.99 0.94 0.97 0.88 0.89 0.8924 0.9750 0.9440 0.9757 0.8467 0.8650 0.8921 0.8897 0.91 0.97 0.87 0.97 0.86 rs1989779 . . Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Long_QT_syndrome|Romano-Ward_syndrome RCV000123594.6|RCV000243269.1|RCV000294066.1|RCV000388439.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN230736|C0023976:9651007|CN119492:20852007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8925 0.9763 0.9423 0.8845 0.9740 0.8465 0.8638 0.8776 0.8936 0.8912 0.9731 0.9284 0.8676 0.9728 0.8373 0.8471 0.8678 hom 2326.99 77 7 91632306 . C T 2326.99 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.40;MQ0=0;QD=30.22;VQSLOD=8.1886;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2360,190,0 7 91714911 91714911 C T exonic AKAP9 nonsynonymous SNV AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S 1. 1. 1. 1. 1. 1. 0.9962 0.9996 0.9985 1 0.9920 0.9963 0.9912 0.9919 1. 1. 1. 0.8 0.99 rs1063242 . . Benign|Likely benign|Benign|Likely benign|Likely benign not_specified|not_provided|Cardiovascular_phenotype|Romano-Ward_syndrome|Long_QT_syndrome RCV000123587.6|RCV000171725.1|RCV000248223.1|RCV000282743.1|RCV000380065.1 MedGen|MedGen|MedGen|MedGen:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN221809|CN230736|CN119492:20852007|C0023976:9651007 . . . . . . 1.0 0.022 T 0.0 0.026 B 0.0 0.013 B 0.475 0.122 N 1 0.090 P -2.075 0.002 N 4.21 0.029 T 1.45 0.008 N 0.052 0.270 -1.027 0.213 T 0.000 0.000 T . . . -0.130 0.082 1.518 0.633 0.070 0.007 0.030 N c -1.340 -1.152 0.006 0.112 0.732 0.924 0 2.47 0.290 0.958 0.286 0.154 0.240 0.053 0.213 0.977 0.480 1.723 0.027 . . . 0.9962 0.9995 0.9989 0.9987 1 0.9917 0.9963 0.9945 0.9922 0.9959 0.9997 1 1 1 0.9920 0.9942 0.9908 hom 2197.43 74 7 91714911 . C T 2197.43 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;QD=29.69;VQSLOD=8.4123;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2230,178,0 7 92028039 92028039 C A exonic ANKIB1 nonsynonymous SNV ANKIB1:NM_019004:exon20:c.C3046A:p.L1016M 0.44 0.24 0.52 0.47 0.56 0.49 0.5147 0.2849 0.6012 0.4303 0.5770 0.5399 0.5269 0.5062 0.45 0.28 0.53 0.42 . rs38794 COSM3762898 1(urinary_tract);1(pancreas);2(large_intestine) . . . . . . . . . . . 0.007 0.599 D 0.005 0.119 B 0.013 0.154 B 0.852 0.071 N 1 0.090 P 0.55 0.145 N 2.91 0.100 T -0.09 0.084 N 0.046 0.026 -0.927 0.447 T 0.000 0.000 T . . . 0.705 0.161 8.858 0.968 0.307 0.216 0.212 N c -0.632 -0.576 0.015 0.126 0.732 0.924 0 3.36 0.374 1.962 0.398 0.935 0.490 0.105 0.227 0.981 0.494 7.778 0.280 . ENSG00000243107.1|ENSG00000001630.11|ENSG00000001629.5|ENSG00000127914.12 Artery_Coronary|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial 0.5205 0.2788 0.5927 0.4746 0.4338 0.5733 0.5429 0.5374 0.5031 0.4792 0.2905 0.5704 0.5132 0.4275 0.5796 0.5622 0.5255 hom 1493.98 47 7 92028039 . C A 1493.98 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7323;MQ=57.91;MQ0=0;QD=31.79;VQSLOD=8.3943;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1527,126,0 7 92131289 92131289 G T exonic PEX1 synonymous SNV PEX1:NM_001282677:exon13:c.C2160A:p.G720G,PEX1:NM_000466:exon14:c.C2331A:p.G777G,PEX1:NM_001282678:exon14:c.C1707A:p.G569G 0.95 0.99 0.94 0.97 0.89 0.95 0.9218 0.9761 0.9358 0.9676 0.8719 0.9089 0.9053 0.9267 0.93 0.97 0.91 0.98 0.82 rs10278857 . . other|Benign not_specified|Zellweger_syndrome RCV000078920.8|RCV000380113.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043459:214100:ORPHA912:88469006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9211 0.9760 0.9410 0.9061 0.9685 0.8671 0.9117 0.9147 0.9249 0.9185 0.9741 0.9403 0.8907 0.9709 0.8697 0.8923 0.9022 hom 7591.06 250 7 92131289 . G T 7591.06 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2544;MQ=58.62;MQ0=0;QD=30.36;VQSLOD=3.8765;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7590,596,0 7 92733766 92733766 C A exonic SAMD9 nonsynonymous SNV SAMD9:NM_001193307:exon2:c.G1645T:p.V549L,SAMD9:NM_017654:exon3:c.G1645T:p.V549L 0.097 0.12 0.099 0.14 0.097 0.024 0.0908 0.1277 0.0642 0.1476 0.0416 0.1025 0.1026 0.0288 0.11 0.13 0.1 0.11 0.082 rs10279499 COSM5001999 1(pancreas) . . . . . . . . . . . 0.007 0.599 D 0.982 0.581 D 0.489 0.455 P 0.000 0.513 U 0.265 0.337 P 2.815 0.823 M 2.29 0.171 T -1.08 0.281 N 0.146 0.264 -1.058 0.121 T 0.000 0.001 T . . . 3.777 0.511 23.4 0.981 0.381 0.971 0.722 D c 0.175 0.061 0.995 0.337 0.707 0.730 0 3.37 0.375 2.864 0.479 -0.030 0.127 0.998 0.411 0.001 0.043 11.089 0.471 . . . 0.0896 0.1288 0.0723 0.1987 0.1451 0.0410 0.0972 0.1075 0.0271 0.0993 0.1308 0.1014 0.1854 0.1545 0.0455 0.0876 0.0695 het 1031.84 76 7 92733766 . C A 1031.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.790;DP=76;Dels=0.00;FS=4.498;HRun=1;HaplotypeScore=1.8490;MQ=58.90;MQ0=0;MQRankSum=1.559;QD=13.58;ReadPosRankSum=-0.956;VQSLOD=5.6535;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,39:76:99:1062,0,985 7 92734451 92734451 A G exonic SAMD9 synonymous SNV SAMD9:NM_001193307:exon2:c.T960C:p.Y320Y,SAMD9:NM_017654:exon3:c.T960C:p.Y320Y 0.52 0.84 0.5 0.52 0.29 0.36 0.3733 0.7636 0.5427 0.5381 0.2418 0.2850 0.3263 0.3351 0.44 0.73 0.29 0.56 0.21 rs6965201 COSM4162503 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3710 0.7743 0.5300 0.3325 0.5317 0.2376 0.2837 0.3520 0.3355 0.4232 0.7549 0.4928 0.32 0.5465 0.2434 0.2656 0.2929 het 676.40 46 7 92734451 . A G 676.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.673;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=-0.787;QD=14.70;ReadPosRankSum=0.809;VQSLOD=6.5039;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,26:46:99:706,0,508 7 92734983 92734983 A G exonic SAMD9 nonsynonymous SNV SAMD9:NM_001193307:exon2:c.T428C:p.I143T,SAMD9:NM_017654:exon3:c.T428C:p.I143T 0.15 0.29 0.13 0.14 0.13 0.026 0.1194 0.2727 0.0814 0.1482 0.0696 0.1250 0.1272 0.0313 0.18 0.27 0.13 0.13 0.12 rs6969691 . . . . . . . . . . . . . 0.809 0.043 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.345 0.112 N 2.62 0.130 T 0.76 0.020 N 0.02 0.004 -0.911 0.468 T 0.000 0.000 T . . . -1.565 0.015 0.002 0.362 0.023 0.005 0.024 N c -1.563 -1.583 0.448 0.205 0.719 0.830 0 -4.02 0.037 -0.647 0.055 -0.294 0.082 0.000 0.063 0.000 0.016 5.298 0.150 . . . 0.1156 0.2751 0.0911 0.2046 0.1459 0.0682 0.1206 0.1343 0.0300 0.1538 0.2740 0.1313 0.1867 0.1555 0.0733 0.1067 0.0963 het 2399.97 156 7 92734983 . A G 2399.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.790;DP=156;Dels=0.00;FS=3.824;HRun=0;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;MQRankSum=0.841;QD=15.38;ReadPosRankSum=0.546;VQSLOD=6.3132;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,92:156:99:2430,0,1564 7 92764489 92764489 C T exonic SAMD9L nonsynonymous SNV SAMD9L:NM_001303500:exon4:c.G796A:p.V266I,SAMD9L:NM_001350083:exon4:c.G796A:p.V266I,SAMD9L:NM_001303496:exon5:c.G796A:p.V266I,SAMD9L:NM_001303498:exon5:c.G796A:p.V266I,SAMD9L:NM_001350085:exon5:c.G796A:p.V266I,SAMD9L:NM_152703:exon5:c.G796A:p.V266I,SAMD9L:NM_001303497:exon6:c.G796A:p.V266I,SAMD9L:NM_001350082:exon6:c.G796A:p.V266I,SAMD9L:NM_001350084:exon6:c.G796A:p.V266I 0.099 0.044 0.11 0.037 0.13 0.2 0.1109 0.0641 0.0722 0.0330 0.0724 0.1182 0.1344 0.1930 0.1 0.066 0.12 0.087 0.11 rs10488532 . . . . . . . . . . . . . 0.394 0.107 T 0.0 0.026 B 0.001 0.040 B 0.000 0.006 N 1 0.090 P 0.145 0.088 N 2.55 0.138 T -0.28 0.116 N 0.033 0.013 -1.046 0.155 T 0.000 0.001 T . . . -3.095 0.001 0.001 0.484 0.040 0.015 0.049 N c -1.835 -2.000 1.000 0.747 0.707 0.730 0 -9.31 0.005 -3.910 0.004 -1.016 0.021 0.000 0.063 0.880 0.369 7.978 0.292 . . . 0.1116 0.0634 0.0763 0.2468 0.0319 0.0755 0.1127 0.1256 0.1946 0.0868 0.0664 0.1062 0.2384 0.0235 0.0748 0.1028 0.1092 het 882.78 75 7 92764489 . C T 882.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.104;DP=75;Dels=0.00;FS=0.902;HRun=0;HaplotypeScore=2.4923;MQ=59.07;MQ0=0;MQRankSum=0.977;QD=11.77;ReadPosRankSum=0.699;VQSLOD=6.6674;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,33:75:99:913,0,1228 7 92970847 92970847 C T exonic VPS50 synonymous SNV VPS50:NM_017667:exon23:c.C2167T:p.L723L,VPS50:NM_001257998:exon24:c.C2077T:p.L693L 0.6 0.97 0.51 0.6 0.38 0.41 0.4504 0.8766 0.5768 0.6070 0.3967 0.3674 0.4031 0.3867 0.53 0.86 0.37 0.69 0.27 rs2106432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4458 0.8857 0.5597 0.3380 0.6066 0.3886 0.3663 0.4165 0.3854 0.5261 0.8690 0.5227 0.3456 0.6275 0.3925 0.3585 0.4020 het 1251.58 125 7 92970847 . C T 1251.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.528;DP=125;Dels=0.00;FS=0.683;HRun=1;HaplotypeScore=1.8930;MQ=58.62;MQ0=0;MQRankSum=0.949;QD=10.01;ReadPosRankSum=-0.272;VQSLOD=6.3679;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,54:125:99:1282,0,1914 7 92985252 92985252 T C exonic VPS50 synonymous SNV VPS50:NM_017667:exon27:c.T2635C:p.L879L,VPS50:NM_001257998:exon28:c.T2545C:p.L849L 0.33 0.39 0.32 0.28 0.29 0.35 0.3091 0.3584 0.3547 0.3126 0.2830 0.2901 0.2923 0.3339 0.3 0.34 0.29 0.27 0.23 rs2374639 COSM5654099 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3064 0.3552 0.3511 0.2950 0.3087 0.2807 0.2850 0.3023 0.3328 0.3018 0.3453 0.3341 0.2815 0.3400 0.2807 0.2769 0.2867 hom 1072.82 34 7 92985252 . T C 1072.82 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=31.55;VQSLOD=9.5252;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:84.27:1106,84,0 7 93540153 93540153 G C exonic GNGT1 nonsynonymous SNV GNGT1:NM_001329426:exon3:c.G148C:p.E50Q,GNGT1:NM_021955:exon3:c.G148C:p.E50Q 0.043 0.13 0.026 . 0.023 0.001 0.0214 0.1046 0.0189 0 0.0064 0.0181 0.0178 0.0023 . . . 0.065 . rs17243826 . . . . . . . . . . . . . 0.054 0.386 T 0.643 0.386 P 0.571 0.481 P 0.000 0.843 D 1.000 0.810 D . . . 1.9 0.235 T -1.69 0.402 N 0.198 0.289 -1.090 0.055 T 0.113 0.403 T . . . 4.065 0.546 23.7 0.998 0.865 0.840 0.428 D c 0.341 0.355 1.0 0.983 0.487 0.133 0 5.6 0.849 7.334 0.783 1.045 0.669 1.000 0.715 0.962 0.444 18.759 0.918 G-protein gamma-like domain . . 0.0194 0.0977 0.0208 0.0365 0 0.0073 0.0168 0.0208 0.0027 0.0372 0.0954 0.0203 0.0132 0 0.0075 0.0170 0.0164 het 1403.67 82 7 93540153 . G C 1403.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.827;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8136;MQ=59.77;MQ0=0;MQRankSum=0.072;QD=17.12;ReadPosRankSum=0.082;VQSLOD=5.4497;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,52:82:99:1434,0,737 7 94030899 94030899 T C exonic COL1A2 synonymous SNV COL1A2:NM_000089:exon6:c.T246C:p.D82D 0.3 0.57 0.17 0.39 0.15 0.099 0.1744 0.5222 0.1319 0.3963 0.1162 0.1262 0.1523 0.0884 0.25 0.5 0.12 0.32 0.09 rs1800222 COSM3762899 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign|Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_procollagen_proteinase_deficient|Osteogenesis_Imperfecta\x2c_Dominant RCV000251681.3|RCV000318261.1|RCV000375392.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C0268345:130060:55711009|CN239427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1628 0.5242 0.1336 0.1473 0.3925 0.1111 0.1218 0.1616 0.0845 0.2491 0.5177 0.116 0.1376 0.3941 0.0949 0.1201 0.1623 het 575.20 59 7 94030899 . T C 575.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.207;DP=59;Dels=0.00;FS=4.450;HRun=0;HaplotypeScore=1.8317;MQ=57.27;MQ0=0;MQRankSum=0.588;QD=9.75;ReadPosRankSum=1.526;VQSLOD=4.2845;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,24:59:99:605,0,857 7 94041937 94041937 A C exonic COL1A2 synonymous SNV COL1A2:NM_000089:exon25:c.A1446C:p.P482P 0.33 0.34 0.29 0.31 0.38 0.3 0.3459 0.3572 0.2336 0.3269 0.4115 0.3726 0.3640 0.2930 0.36 0.34 0.37 0.28 0.31 rs412777 COSM1452968 1(large_intestine) Benign|Benign|Benign not_specified|Osteogenesis_Imperfecta\x2c_Dominant|Ehlers-Danlos_syndrome\x2c_procollagen_proteinase_deficient RCV000252784.2|RCV000367790.1|RCV000395576.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239427|C0268345:130060:55711009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3391 0.3496 0.2390 0.3609 0.3124 0.4093 0.3687 0.3483 0.2920 0.3579 0.3565 0.2859 0.36 0.3015 0.4002 0.3597 0.3459 het 449.76 43 7 94041937 . A C 449.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.907;DP=43;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=58.81;MQ0=0;MQRankSum=-0.911;QD=10.46;ReadPosRankSum=0.790;VQSLOD=5.6288;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,21:43:99:480,0,529 7 94043239 94043239 C G exonic COL1A2 nonsynonymous SNV COL1A2:NM_000089:exon28:c.C1645G:p.P549A 0.82 0.91 0.84 0.91 0.76 0.66 0.7693 0.8895 0.8341 0.9151 0.7871 0.7499 0.7373 0.6445 0.79 0.88 0.75 0.88 0.61 rs42524 COSM3762900 1(large_intestine) Benign|Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_procollagen_proteinase_deficient|Osteogenesis_Imperfecta\x2c_Dominant RCV000244604.2|RCV000269609.1|RCV000323983.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C0268345:130060:55711009|CN239427 . . . . . . 0.979 0.020 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 1.000 0.209 P 2.095 0.583 M -4.05 0.965 D 0.71 0.021 N 0.126 0.143 -0.903 0.477 T 0.000 0.000 T . . . 1.144 0.204 11.45 0.362 0.023 0.195 0.205 N c -0.375 -0.193 1.000 0.747 0.707 0.730 0 5.66 0.872 2.385 0.438 0.073 0.181 0.996 0.391 0.970 0.461 17.206 0.867 . . . 0.7718 0.8923 0.8353 0.6789 0.9093 0.7886 0.7555 0.7461 0.6467 0.8092 0.8902 0.8165 0.6457 0.9173 0.7805 0.7632 0.7576 het 1041.17 95 7 94043239 . C G 1041.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.899;DP=95;Dels=0.00;FS=8.590;HRun=0;HaplotypeScore=4.7481;MQ=58.51;MQ0=0;MQRankSum=1.148;QD=10.96;ReadPosRankSum=1.851;VQSLOD=3.8653;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,43:95:99:1071,0,1372 7 94180691 94180691 T C exonic CASD1 synonymous SNV CASD1:NM_022900:exon15:c.T1857C:p.A619A 0.12 0.17 0.11 0.15 0.11 0.041 0.1012 0.1548 0.0754 0.1627 0.0807 0.1064 0.0856 0.0425 0.12 0.15 0.11 0.098 0.098 rs10280457 COSM3762901 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0957 0.1445 0.0729 0.1167 0.1486 0.0769 0.1024 0.1038 0.0415 0.1167 0.1658 0.0895 0.1026 0.1390 0.0765 0.0987 0.0878 het 568.74 43 7 94180691 . T C 568.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.256;DP=43;Dels=0.00;FS=1.171;HRun=1;HaplotypeScore=0.6651;MQ=56.89;MQ0=0;MQRankSum=1.595;QD=13.23;ReadPosRankSum=-1.644;VQSLOD=3.5457;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,23:43:99:599,0,426 7 94539536 94539536 C T exonic PPP1R9A synonymous SNV PPP1R9A:NM_001166161:exon1:c.C111T:p.P37P,PPP1R9A:NM_001166162:exon1:c.C111T:p.P37P,PPP1R9A:NM_001166163:exon1:c.C111T:p.P37P,PPP1R9A:NM_001166160:exon2:c.C111T:p.P37P,PPP1R9A:NM_017650:exon2:c.C111T:p.P37P 0.11 0.018 0.22 0.14 0.096 0.13 0.1067 0.0298 0.2349 0.1354 0.1063 0.0903 0.1128 0.1168 0.068 0.035 0.085 0.11 0.049 rs12536183 COSM3982293 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1121 0.0294 0.2245 0.1056 0.1330 0.1030 0.0877 0.1080 0.1169 0.0803 0.0319 0.1909 0.1026 0.1454 0.1037 0.0880 0.1010 hom 2142.60 67 7 94539536 . C T 2142.60 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;QD=31.98;VQSLOD=9.0969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2176,175,0 7 94898811 94898811 G A exonic PPP1R9A nonsynonymous SNV PPP1R9A:NM_001166161:exon12:c.G2996A:p.R999Q,PPP1R9A:NM_001166162:exon12:c.G3050A:p.R1017Q,PPP1R9A:NM_001166160:exon14:c.G3116A:p.R1039Q 0.6 0.68 0.66 0.62 0.55 0.51 0.5722 0.6867 0.6431 0.6613 0.5273 0.5538 0.5799 0.5022 0.59 0.68 0.56 0.6 . rs854524 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P . . . 2.6 0.138 T 0.81 0.022 N 0.021 0.005 -0.998 0.304 T 0.000 0.000 T . . . 2.764 0.393 21.2 0.405 0.028 0.009 0.036 N c -0.644 -0.505 0.884 0.257 0.554 0.283 0 2.47 0.290 1.723 0.374 0.202 0.252 0.991 0.370 0.937 0.410 7.171 0.247 Sterile alpha motif domain|Sterile alpha motif/pointed domain . . 0.5731 0.6796 0.6331 0.6510 0.6556 0.5267 0.5437 0.6021 0.5047 0.5852 0.6810 0.6010 0.69 0.6314 0.5262 0.5368 0.5594 hom 4290.25 134 7 94898811 . G A 4290.25 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.46;MQ0=0;QD=32.02;VQSLOD=9.2671;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4290,331,0 7 94946084 94946084 A T exonic PON1 nonsynonymous SNV PON1:NM_000446:exon3:c.T163A:p.L55M 0.18 0.15 0.21 0.034 0.36 0.18 0.2913 0.1748 0.1924 0.0365 0.3536 0.3732 0.3282 0.2092 0.31 0.17 0.37 0.2 0.3 rs854560 COSM5618522 1(breast);1(skin) other|other|other Coronary_artery_disease\x2c_susceptibility_to|Microvascular_complications_of_diabetes_5|Enzyme_activity_finding RCV000014742.2|RCV000014743.2|RCV000133465.2 MedGen|MedGen:OMIM|MedGen:SNOMED_CT C1840169|C2674665:612633|C1827841:424017009 . . . . . . 0.02 0.496 D 0.983 0.585 D 0.925 0.643 D 0.001 0.432 D 0.500 0.317 P 2.48 0.723 M 0.79 0.491 T -1.01 0.266 N 0.197 0.277 -1.032 0.199 T 0.000 0.000 T . . . 2.919 0.411 21.9 0.995 0.654 0.548 0.294 D c -0.114 -0.140 0.994 0.335 0.517 0.208 0 -1.76 0.075 0.197 0.169 0.237 0.263 0.989 0.365 0.996 0.625 4.210 0.099 Six-bladed beta-propeller\x2c TolB-like ENSG00000005421.4|ENSG00000005421.4 Adrenal_Gland|Liver 0.2895 0.1682 0.1979 0.4066 0.0343 0.3591 0.3682 0.3386 0.2109 0.2883 0.1807 0.2255 0.4073 0.0278 0.3572 0.3605 0.3418 het 2254.15 184 7 94946084 . A T 2254.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.372;DP=184;DS;Dels=0.00;FS=5.561;HRun=0;HaplotypeScore=5.1282;MQ=59.11;MQ0=0;MQRankSum=0.865;QD=12.25;ReadPosRankSum=1.120;VQSLOD=4.1875;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,86:184:99:2284,0,2639 7 95001555 95001555 C T exonic PON3 synonymous SNV PON3:NM_000940:exon4:c.G297A:p.A99A 0.66 0.64 0.68 0.78 0.5 0.72 0.5675 0.5794 0.7260 0.7943 0.6225 0.4747 0.5518 0.6843 0.49 0.57 0.46 0.67 0.47 rs1053275 COSM3762904 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5718 0.5792 0.7149 0.4049 0.7859 0.6101 0.4728 0.5378 0.6824 0.5371 0.5622 0.6667 0.4503 0.7565 0.6062 0.4763 0.5511 het 1043.12 68 7 95001555 . C T 1043.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.949;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.90;MQ0=0;MQRankSum=1.226;QD=15.34;ReadPosRankSum=-0.220;VQSLOD=7.0322;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,36:68:99:1073,0,685 7 95025600 95025600 G A exonic PON3 synonymous SNV PON3:NM_000940:exon1:c.C63T:p.F21F 0.3 0.4 0.24 0.17 0.26 0.41 0.2925 0.3470 0.2164 0.1748 0.4562 0.2720 0.3274 0.3885 0.28 0.34 0.25 0.34 0.25 rs13226149 COSM4162508 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2883 0.3514 0.2190 0.1849 0.1691 0.4495 0.2682 0.2814 0.3881 0.3123 0.3306 0.2249 0.2053 0.1753 0.4464 0.2903 0.3419 het 2666.80 232 7 95025600 . G A 2666.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.806;DP=232;Dels=0.00;FS=1.608;HRun=2;HaplotypeScore=7.0715;MQ=59.05;MQ0=0;MQRankSum=1.146;QD=11.49;ReadPosRankSum=-0.991;VQSLOD=4.7415;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,111:232:99:2697,0,3217 7 95034775 95034775 G C exonic PON2 nonsynonymous SNV PON2:NM_000305:exon9:c.C932G:p.S311C,PON2:NM_001018161:exon9:c.C896G:p.S299C 0.28 0.33 0.23 0.19 0.25 0.39 0.2710 0.2901 0.2112 0.1922 0.4424 0.2481 0.3150 0.3634 0.25 0.28 0.23 0.27 0.26 rs7493 COSM4162510;COSM4162509 3(haematopoietic_and_lymphoid_tissue);14(soft_tissue);1(pancreas);1(thyroid) Benign PARAOXONASE_2_POLYMORPHISM RCV000007500.2 . . . . . . . . 0.022 0.496 D 0.013 0.154 B 0.008 0.127 B 0.000 0.629 D 0.001 0.473 P . . . 0.69 0.517 T -3.45 0.675 D 0.274 0.332 -0.995 0.314 T 0.000 0.000 T . . . 2.892 0.408 21.8 0.959 0.276 0.993 0.943 D c -0.112 0.020 1.000 0.747 0.732 0.924 0 3.7 0.414 9.260 0.947 0.953 0.551 1.000 0.715 0.999 0.750 12.995 0.579 Six-bladed beta-propeller\x2c TolB-like ENSG00000005981.8|ENSG00000005981.8|ENSG00000105854.8|ENSG00000005981.8|ENSG00000105854.8|ENSG00000105854.8|ENSG00000105854.8|ENSG00000005981.8|ENSG00000105854.8|ENSG00000005981.8|ENSG00000105854.8|ENSG00000273138.1|ENSG00000005421.4|ENSG00000005981.8|ENSG00000105854.8|ENSG00000005421.4|ENSG00000005981.8|ENSG00000105854.8|ENSG00000005981.8|ENSG00000005981.8|ENSG00000105854.8|ENSG00000105852.6|ENSG00000005981.8|ENSG00000233942.1|ENSG00000005981.8|ENSG00000105854.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Thyroid 0.2690 0.2946 0.2120 0.1741 0.1877 0.4362 0.2443 0.2638 0.3627 0.2831 0.2823 0.2086 0.1987 0.1881 0.4338 0.2613 0.3340 het 1710.79 135 7 95034775 . G C 1710.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=135;Dels=0.00;FS=1.360;HRun=0;HaplotypeScore=3.8439;MQ=58.69;MQ0=0;MQRankSum=-0.685;QD=12.67;ReadPosRankSum=0.103;VQSLOD=5.8245;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,65:135:99:1741,0,1945 7 95041016 95041016 G C exonic PON2 nonsynonymous SNV PON2:NM_000305:exon5:c.C443G:p.A148G,PON2:NM_001018161:exon5:c.C407G:p.A136G 0.28 0.33 0.23 0.19 0.25 0.39 0.2710 0.2883 0.2111 0.1920 0.4429 0.2484 0.3156 0.3634 0.25 0.28 0.23 0.26 0.23 rs12026 COSM4985114;COSM4985113 1(haematopoietic_and_lymphoid_tissue);14(soft_tissue) Benign PARAOXONASE_2_POLYMORPHISM RCV000007501.2 . . . . . . . . 0.03 0.453 D 0.002 0.139 B 0.007 0.121 B 0.001 0.413 D 0.984 0.248 P -0.345 0.033 N 1.09 0.392 T -0.79 0.219 N 0.088 0.089 -0.966 0.380 T 0.000 0.000 T . . . 0.202 0.113 4.702 0.870 0.164 0.917 0.538 D c -1.019 -0.850 1.000 0.747 0.706 0.609 0 2.55 0.296 5.625 0.672 0.102 0.200 1.000 0.715 1.000 0.888 8.399 0.316 Six-bladed beta-propeller\x2c TolB-like ENSG00000005981.8|ENSG00000005981.8|ENSG00000105854.8|ENSG00000005981.8|ENSG00000105854.8|ENSG00000105854.8|ENSG00000105854.8|ENSG00000005981.8|ENSG00000105854.8|ENSG00000005981.8|ENSG00000105854.8|ENSG00000273138.1|ENSG00000005421.4|ENSG00000005981.8|ENSG00000105854.8|ENSG00000005421.4|ENSG00000005981.8|ENSG00000105854.8|ENSG00000005981.8|ENSG00000005981.8|ENSG00000105854.8|ENSG00000105852.6|ENSG00000005981.8|ENSG00000233942.1|ENSG00000005981.8|ENSG00000105854.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Thyroid 0.2685 0.2927 0.2116 0.1742 0.1875 0.4361 0.2440 0.2627 0.3625 0.2826 0.2802 0.2086 0.1987 0.1884 0.4337 0.2615 0.3344 het 424.49 41 7 95041016 . G C 424.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DP=41;Dels=0.00;FS=6.816;HRun=1;HaplotypeScore=0.9973;MQ=60.00;MQ0=0;MQRankSum=0.410;QD=10.35;ReadPosRankSum=-0.198;VQSLOD=4.7528;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:454,0,714 7 95216415 95216415 - A exonic PDK4 frameshift insertion PDK4:NM_002612:exon10:c.1001dupT:p.L334Ffs*36 . . . . . . 0.0006 0.0010 0.0028 0.0015 0.0018 0.0003 0 0 . . . . . rs747048847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 . . . . . . . . het 294.99 66 7 95216415 . C CA 294.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.450;DP=66;FS=67.469;HRun=2;HaplotypeScore=391.7316;MQ=59.64;MQ0=1;MQRankSum=2.547;QD=4.40;ReadPosRankSum=-4.235;set=variant2 GT:AD:DP:GQ:PL 0/1:35,32:66:99:334,0,674 7 95800820 95800820 T C exonic SLC25A13 synonymous SNV SLC25A13:NM_001160210:exon12:c.A1197G:p.L399L,SLC25A13:NM_014251:exon12:c.A1194G:p.L398L 0.41 0.25 0.34 0.61 0.35 0.54 0.3958 0.2593 0.3865 0.5796 0.3691 0.3642 0.3681 0.5304 0.32 0.27 0.35 0.37 0.29 rs2301629 COSM1453053 1(large_intestine) Benign|Benign|Benign not_specified|Citrin_deficiency|Citrullinemia_type_I RCV000250328.1|RCV000319976.1|RCV000372383.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet CN169374|C1997910:ORPHA247582:429735007|C0175683:215700:ORPHA187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3952 0.2499 0.3857 0.2644 0.5763 0.3718 0.3689 0.3827 0.5325 0.3492 0.2530 0.3612 0.2450 0.5739 0.3732 0.3748 0.3806 het 768.54 78 7 95800820 . T C 768.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.422;DP=78;Dels=0.00;FS=0.914;HRun=0;HaplotypeScore=0.7887;MQ=59.52;MQ0=0;MQRankSum=1.634;QD=9.85;ReadPosRankSum=-1.123;VQSLOD=6.1548;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,31:78:99:799,0,1143 7 97488569 97488569 A T exonic ASNS nonsynonymous SNV ASNS:NM_001178076:exon3:c.T380A:p.V127E,ASNS:NM_001178077:exon3:c.T380A:p.V127E,ASNS:NM_001178075:exon5:c.T566A:p.V189E,ASNS:NM_001673:exon5:c.T629A:p.V210E,ASNS:NM_133436:exon5:c.T629A:p.V210E,ASNS:NM_183356:exon6:c.T629A:p.V210E 0.88 0.98 0.83 0.91 0.72 0.88 0.7948 0.9481 0.8242 0.9017 0.7723 0.7437 0.7930 0.8372 0.8 0.94 0.73 0.91 0.76 rs1049674 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 0.999 0.218 P -1.955 0.002 N 0.81 0.494 T 0.77 0.023 N 0.083 0.381 -1.003 0.291 T 0.000 0.000 T . . . 0.528 0.145 7.639 0.248 0.011 0.015 0.050 N c -0.815 -0.644 0.001 0.081 0.732 0.924 0 3.04 0.340 4.393 0.592 0.088 0.194 1.000 0.715 0.593 0.287 6.375 0.206 Glutamine amidotransferase type 2 domain|Nucleophile aminohydrolases\x2c N-terminal . . 0.7926 0.9505 0.8217 0.7837 0.8990 0.7690 0.7392 0.7925 0.8361 0.8153 0.9442 0.8134 0.7833 0.9098 0.7688 0.7438 0.7800 het 1524.71 101 7 97488569 . A T 1524.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.857;DP=101;Dels=0.00;FS=2.762;HRun=1;HaplotypeScore=4.2988;MQ=59.77;MQ0=0;MQRankSum=0.830;QD=15.10;ReadPosRankSum=-0.490;VQSLOD=5.5381;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,61:101:99:1555,0,930 7 97852399 97852399 G A exonic TECPR1 nonsynonymous SNV TECPR1:NM_015395:exon21:c.C2831T:p.P944L 0.21 0.24 0.29 0.26 0.19 0.11 0.2383 0.2579 0.4705 0.3241 0.3702 0.2029 0.2273 0.1241 0.17 0.19 0.16 0.2 . rs11762014 COSM453635 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.124 0.274 T 0.663 0.390 P 0.036 0.216 B 0.010 0.300 N 0.601 0.309 P 1.155 0.297 L 1.55 0.299 T -1.72 0.408 N 0.085 0.080 -0.953 0.405 T 0.000 0.000 T . . . 1.793 0.276 14.95 0.855 0.154 0.589 0.305 D c -0.247 -0.223 0.997 0.353 0.707 0.730 0 4.05 0.462 3.375 0.519 1.048 0.713 0.999 0.424 0.069 0.175 12.353 0.543 . ENSG00000006453.9|ENSG00000205356.5 Adipose_Subcutaneous|Artery_Tibial 0.2100 0.2122 0.3765 0.1070 0.2821 0.3006 0.1672 0.1891 0.1071 0.2190 0.2051 0.3294 0.1291 0.2822 0.2917 0.1996 0.2086 het 220.75 16 7 97852399 . G A 220.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.488;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.054;QD=13.80;ReadPosRankSum=-1.356;VQSLOD=11.0498;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,10:16:99:251,0,154 7 97863145 97863145 G A exonic TECPR1 synonymous SNV TECPR1:NM_015395:exon11:c.C1260T:p.V420V 0.3 0.2 0.19 0.43 0.23 0.45 0.3329 0.2514 0.2936 0.4758 0.2450 0.2960 0.3506 0.4485 0.21 0.19 0.23 0.3 . rs2291750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2621 0.2072 0.2102 0.1824 0.4229 0.1897 0.2366 0.2314 0.4207 0.2210 0.2053 0.1866 0.1954 0.4043 0.1891 0.2185 0.2469 het 253.10 15 7 97863145 . G A 253.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.002;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;MQRankSum=-0.177;QD=16.87;ReadPosRankSum=0.295;VQSLOD=6.8025;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,9:15:99:283,0,136 7 97873994 97873994 G A exonic TECPR1 synonymous SNV TECPR1:NM_015395:exon5:c.C420T:p.Y140Y 0.3 0.21 0.33 0.45 0.27 0.28 0.2849 0.2084 0.4226 0.4808 0.3757 0.2458 0.2810 0.2483 0.22 0.19 0.24 0.28 . rs1874344 COSM453636 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2913 0.2043 0.4065 0.1966 0.4814 0.3759 0.2451 0.2639 0.2422 0.2847 0.2134 0.3711 0.2252 0.4752 0.3715 0.2817 0.2838 het 1647.17 135 7 97873994 . G A 1647.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.390;DP=135;Dels=0.00;FS=3.134;HRun=0;HaplotypeScore=2.4328;MQ=59.06;MQ0=0;MQRankSum=0.850;QD=12.20;ReadPosRankSum=-0.129;VQSLOD=6.2003;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,68:135:99:1677,0,1694 7 97933601 97933601 C T exonic BAIAP2L1 synonymous SNV BAIAP2L1:NM_018842:exon12:c.G1329A:p.L443L 0.56 0.33 0.68 0.69 0.75 0.44 0.6689 0.3732 0.7198 0.7034 0.7949 0.7434 0.6767 0.4493 0.62 0.39 0.74 0.51 0.66 rs1045916 COSM4006799 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6796 0.3677 0.7172 0.7034 0.7028 0.7971 0.7434 0.7104 0.4509 0.6512 0.3866 0.7165 0.6644 0.7016 0.7932 0.7587 0.7108 het 769.45 69 7 97933601 . C T 769.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.915;DP=69;Dels=0.00;FS=0.928;HRun=0;HaplotypeScore=2.6457;MQ=59.12;MQ0=0;MQRankSum=-1.986;QD=11.15;ReadPosRankSum=-0.822;VQSLOD=5.2869;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,34:69:99:799,0,939 7 98460824 98460824 C A exonic TMEM130 synonymous SNV TMEM130:NM_001134450:exon2:c.G285T:p.V95V,TMEM130:NM_152913:exon2:c.G285T:p.V95V 0.69 0.22 0.76 0.88 0.85 0.9 0.8130 0.3079 0.8069 0.8702 0.8847 0.8612 0.8352 0.8805 0.68 0.33 0.86 0.58 0.67 rs10238224 COSM4006801;COSM4006800 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8191 0.2928 0.8044 0.7638 0.8745 0.8823 0.8631 0.8321 0.8759 0.7086 0.3141 0.7971 0.7682 0.8670 0.8801 0.8653 0.8490 hom 2316.18 68 7 98460824 . C A 2316.18 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;QD=34.06;VQSLOD=10.1377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2349,187,0 7 99128918 99128918 A G exonic ZKSCAN5 synonymous SNV ZKSCAN5:NM_001318083:exon5:c.A1347G:p.L449L,ZKSCAN5:NM_001318084:exon5:c.A774G:p.L258L,ZKSCAN5:NM_001318082:exon7:c.A1566G:p.L522L,ZKSCAN5:NM_014569:exon7:c.A1566G:p.L522L,ZKSCAN5:NM_145102:exon7:c.A1566G:p.L522L 0.0076 0.0015 0.016 . 0.023 0.002 0.0220 0.0060 0.0094 0.0001 0.0248 0.0340 0.0099 0.0030 0.028 0.0075 0.038 . 0.033 rs61735344 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0209 0.0062 0.0095 0.0016 5.798e-05 0.0214 0.0363 0.0159 0.0030 0.0213 0.0062 0.0191 0 0 0.0195 0.0333 0.0224 hom 3228.29 100 7 99128918 . A G 3228.29 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=32.28;VQSLOD=9.1595;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3261,253,0 7 99306685 99306685 C G exonic CYP3A7;CYP3A7-CYP3A51P nonsynonymous SNV CYP3A7:NM_000765:exon11:c.G1226C:p.R409T,CYP3A7-CYP3A51P:NM_001256497:exon11:c.G1226C:p.R409T 0.67 0.38 0.81 0.71 0.93 0.65 0.8133 0.4631 0.7582 0.7306 0.9306 0.9083 0.8469 0.6828 0.76 0.48 0.91 0.62 0.86 rs2257401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8220 0.4538 0.7679 0.9048 0.7257 0.9287 0.9107 0.8566 0.6870 0.7724 0.4627 0.7864 0.8841 0.7106 0.9278 0.9150 0.8429 hom 4103.29 133 7 99306685 . C G 4103.29 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5895;MQ=58.02;MQ0=0;QD=30.85;VQSLOD=7.4689;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4103,310,0 7 99459256 99459256 C T exonic CYP3A43 synonymous SNV CYP3A43:NM_001278921:exon8:c.C717T:p.A239A,CYP3A43:NM_022820:exon11:c.C1047T:p.A349A,CYP3A43:NM_057095:exon11:c.C1047T:p.A349A,CYP3A43:NM_057096:exon11:c.C1047T:p.A349A 0.031 0.003 0.046 . 0.093 0.025 0.0754 0.0194 0.0306 0.0004 0.1353 0.1078 0.0695 0.0263 0.085 0.025 0.12 0.011 0.13 rs17342647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0737 0.0182 0.0313 0.0386 0.0003 0.1271 0.1120 0.0578 0.0251 0.0822 0.0203 0.0513 0.0530 0 0.1217 0.1193 0.0957 hom 1485.20 50 7 99459256 . C T 1485.20 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.89;MQ0=0;QD=29.70;VQSLOD=8.1674;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1518,114,0 7 99474427 99474427 A G exonic OR2AE1 nonsynonymous SNV OR2AE1:NM_001005276:exon1:c.T230C:p.I77T 0.56 0.91 0.43 0.29 0.49 0.51 0.5205 0.8503 0.4560 0.2896 0.5485 0.5216 0.4692 0.4655 0.63 0.84 0.52 0.6 0.55 rs2572023 COSM3762923 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.412 N 1 0.090 P -0.48 0.027 N 5.28 0.011 T 0.61 0.025 N 0.018 0.003 -1.004 0.287 T 0.000 0.000 T . . . -2.114 0.007 0.001 0.677 0.082 0.037 0.089 N c -1.453 -1.424 1.000 0.747 0.534 0.214 0 0.807 0.178 -0.090 0.110 -0.481 0.053 0.000 0.063 0.025 0.141 7.169 0.247 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000272752.1|ENSG00000121716.14|ENSG00000146833.11|ENSG00000085514.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000272752.1|ENSG00000121716.14|ENSG00000146833.11|ENSG00000085514.11|ENSG00000121716.14|ENSG00000085514.11|ENSG00000272752.1|ENSG00000121716.14|ENSG00000146833.11|ENSG00000085514.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000272752.1|ENSG00000121716.14|ENSG00000146833.11|ENSG00000085514.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000160862.8|ENSG00000272752.1|ENSG00000121716.14|ENSG00000146833.11|ENSG00000272752.1|ENSG00000121716.14|ENSG00000146833.11|ENSG00000085514.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000085514.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000272752.1|ENSG00000121716.14|ENSG00000146833.11|ENSG00000085514.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000146833.11|ENSG00000085514.11|ENSG00000272752.1|ENSG00000121716.14|ENSG00000146833.11|ENSG00000085514.11|ENSG00000146833.11|ENSG00000146833.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood 0.5094 0.8585 0.4567 0.4439 0.2864 0.5407 0.5249 0.4865 0.4644 0.6155 0.8400 0.4653 0.4533 0.2886 0.5430 0.5512 0.5716 hom 5417.57 167 7 99474427 . A G 5417.57 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6405;MQ=59.53;MQ0=0;QD=32.44;VQSLOD=9.1378;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5417,421,0 7 99500899 99500899 T C exonic TRIM4 synonymous SNV TRIM4:NM_033091:exon5:c.A783G:p.V261V,TRIM4:NM_033017:exon6:c.A861G:p.V287V 0.32 0.15 0.34 0.29 0.42 0.47 0.4121 0.1987 0.3646 0.2944 0.4906 0.4590 0.3805 0.4219 0.38 0.21 0.46 0.22 0.48 rs2247762 COSM3762925;COSM3762924 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4099 0.1971 0.3649 0.3735 0.2883 0.4757 0.4603 0.3944 0.4184 0.3911 0.1960 0.3640 0.4 0.2958 0.4831 0.4894 0.4745 hom 4146.32 143 7 99500899 . T C 4146.32 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3246;MQ=58.78;MQ0=0;QD=29.00;VQSLOD=7.7988;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4146,307,0 7 99500911 99500911 A G exonic TRIM4 synonymous SNV TRIM4:NM_033091:exon5:c.T771C:p.S257S,TRIM4:NM_033017:exon6:c.T849C:p.S283S 0.58 0.9 0.46 0.3 0.53 0.56 0.5653 0.8561 0.4399 0.2951 0.6015 0.5820 0.5308 0.5312 0.67 0.84 0.58 0.65 0.58 rs2247761 COSM3762926;COSM3762927 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5530 0.8627 0.4494 0.5112 0.2891 0.5892 0.5862 0.5341 0.5302 0.6563 0.8456 0.4677 0.5533 0.2975 0.5973 0.6123 0.6367 hom 4235.36 143 7 99500911 . A G 4235.36 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9443;MQ=59.25;MQ0=0;QD=29.62;VQSLOD=9.3251;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4235,319,0 7 99569394 99569394 G A exonic AZGP1 synonymous SNV AZGP1:NM_001185:exon2:c.C312T:p.I104I 0.37 0.073 0.49 0.64 0.41 0.39 0.3987 0.1243 0.5003 0.6642 0.3630 0.3873 0.4240 0.4205 0.3 0.13 0.39 0.32 0.43 rs4215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4104 0.1203 0.4979 0.4275 0.6656 0.3640 0.3884 0.4181 0.4224 0.3239 0.1296 0.4749 0.3933 0.6611 0.3731 0.3781 0.3391 het 1525.50 137 7 99569394 . G A 1525.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.279;DP=137;Dels=0.00;FS=1.387;HRun=1;HaplotypeScore=3.2855;MQ=59.51;MQ0=0;MQRankSum=-0.350;QD=11.14;ReadPosRankSum=-0.473;VQSLOD=6.3621;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,58:137:99:1555,0,2026 7 99662512 99662515 TAGT - exonic ZNF3 frameshift deletion ZNF3:NM_001318137:exon4:c.184_187del:p.T62Rfs*3,ZNF3:NM_017715:exon6:c.292_295del:p.T98Rfs*3 0.28 0.16 0.23 0.41 0.28 0.34 0.2731 0.1862 0.2077 0.3877 0.3155 0.2742 0.2456 0.2911 0.25 0.18 0.28 . . rs71689664 COSM5001700 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2729 0.1872 0.2122 0.2395 0.3910 0.3091 0.2775 0.2491 0.2875 0.2550 0.1801 0.2231 0.2483 0.3711 0.3052 0.2756 0.2689 het 5235.31 212 7 99662511 . GTAGT G 5235.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.754;DP=212;FS=3.573;HRun=0;HaplotypeScore=997.2276;MQ=56.84;MQ0=0;MQRankSum=-1.510;QD=24.69;ReadPosRankSum=0.147;set=variant2 GT:AD:DP:GQ:PL 0/1:111,101:212:99:5235,0,7381 7 99696797 99696797 T C exonic MCM7 nonsynonymous SNV MCM7:NM_005916:exon5:c.A431G:p.N144S 0.2 0.013 0.19 0.28 0.27 0.29 0.2385 0.0532 0.1587 0.2571 0.3004 0.2728 0.2280 0.2383 0.21 0.065 0.29 0.15 0.18 rs2070215 COSM150336 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate);6(soft_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.480 0.122 N 1 0.189 P -1.59 0.004 N 2.88 0.103 T 0.84 0.018 N 0.011 0.104 -0.956 0.400 T 0.000 0.000 T . . . -1.461 0.018 0.003 0.658 0.076 0.110 0.162 N c -1.258 -1.136 1.000 0.747 0.628 0.401 0 -3.6 0.043 0.044 0.138 -0.216 0.099 0.001 0.137 0.969 0.458 7.476 0.264 MCM N-terminal domain|Nucleic acid-binding\x2c OB-fold ENSG00000166924.4|ENSG00000146833.11|ENSG00000146833.11|ENSG00000221838.5|ENSG00000146833.11|ENSG00000221838.5|ENSG00000160862.8|ENSG00000106261.12|ENSG00000106290.10|ENSG00000221838.5|ENSG00000146833.11|ENSG00000066923.13|ENSG00000146826.10|ENSG00000106290.10|ENSG00000146833.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid|Thyroid 0.2399 0.0491 0.1647 0.2449 0.2604 0.2962 0.2762 0.2310 0.2333 0.2108 0.0557 0.1831 0.2616 0.2435 0.2932 0.2766 0.2495 het 3002.98 203 7 99696797 . T C 3002.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.199;DP=203;Dels=0.00;FS=5.411;HRun=0;HaplotypeScore=2.7692;MQ=59.24;MQ0=0;MQRankSum=0.336;QD=14.79;ReadPosRankSum=0.902;VQSLOD=5.5302;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,105:203:99:3033,0,2403 7 99747130 99747130 G A exonic LAMTOR4 synonymous SNV LAMTOR4:NM_001008395:exon2:c.G12A:p.A4A,LAMTOR4:NM_001318236:exon2:c.G12A:p.A4A 0.6 0.53 0.49 0.68 0.63 0.64 0.5952 0.5749 0.4735 0.6771 0.5957 0.5987 0.6145 0.6352 0.6 0.57 0.62 0.59 0.43 rs12878 COSM3762939 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5941 0.5721 0.4835 0.6481 0.6862 0.5970 0.5999 0.5958 0.6339 0.5808 0.5619 0.5048 0.6644 0.6667 0.5934 0.5798 0.6168 het 3022.18 243 7 99747130 . G A 3022.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.807;DP=243;DS;Dels=0.00;FS=0.993;HRun=0;HaplotypeScore=2.7801;MQ=59.27;MQ0=0;MQRankSum=1.376;QD=12.44;ReadPosRankSum=1.006;VQSLOD=6.4248;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:129,114:243:99:3052,0,3265 7 99757612 99757612 G A exonic GAL3ST4 nonsynonymous SNV GAL3ST4:NM_024637:exon4:c.C1400T:p.A467V 0.51 0.33 0.42 0.64 0.56 0.61 0.5375 0.3786 0.4358 0.6351 0.5638 0.5493 0.5585 0.5985 0.51 0.39 0.57 0.47 0.51 rs3823646 COSM3762940;COSM5830776 1(large_intestine) . . . . . . . . . . . 0.041 0.419 D 0.056 0.214 B 0.046 0.233 B 0.041 0.240 U 0.071 0.588 P 1.565 0.397 L 2.3 0.170 T -0.97 0.258 N 0.049 0.165 -0.976 0.359 T 0.000 0.000 T . . . 2.672 0.382 20.6 0.999 0.971 0.830 0.418 D c -0.234 -0.055 1.000 0.489 0.635 0.413 0 5.04 0.672 0.527 0.225 1.045 0.669 0.004 0.165 0.962 0.444 7.987 0.292 . ENSG00000106290.10|ENSG00000221838.5|ENSG00000166529.10|ENSG00000221838.5|ENSG00000221838.5|ENSG00000221838.5|ENSG00000106290.10|ENSG00000221838.5|ENSG00000188186.6|ENSG00000188186.6|ENSG00000221838.5|ENSG00000221838.5|ENSG00000166529.10|ENSG00000106290.10|ENSG00000221838.5|ENSG00000188186.6|ENSG00000221838.5|ENSG00000221838.5|ENSG00000213420.3|ENSG00000197093.6|ENSG00000106290.10|ENSG00000221838.5|ENSG00000221838.5|ENSG00000121716.14|ENSG00000166529.10|ENSG00000272752.1|ENSG00000121716.14|ENSG00000106290.10|ENSG00000221838.5|ENSG00000078487.13|ENSG00000221838.5|ENSG00000213420.3|ENSG00000213420.3|ENSG00000221838.5|ENSG00000221838.5|ENSG00000188186.6|ENSG00000106290.10|ENSG00000221838.5|ENSG00000221838.5|ENSG00000146826.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5407 0.3725 0.4449 0.6115 0.6456 0.5625 0.5511 0.5373 0.5946 0.4960 0.3689 0.4522 0.6291 0.6317 0.5623 0.5362 0.5494 het 1105.31 94 7 99757612 . G A 1105.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.194;DP=94;Dels=0.00;FS=2.786;HRun=0;HaplotypeScore=1.8737;MQ=58.96;MQ0=0;MQRankSum=0.890;QD=11.76;ReadPosRankSum=-1.578;VQSLOD=6.1507;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,45:94:99:1135,0,1307 7 99758136 99758136 T G exonic GAL3ST4 synonymous SNV GAL3ST4:NM_024637:exon4:c.A876C:p.A292A 0.54 0.46 0.44 0.64 0.56 0.61 0.5514 0.5064 0.4428 0.6364 0.5653 0.5531 0.5653 0.5977 0.55 0.5 0.57 0.53 0.54 rs3800951 COSM5830778;COSM3762941 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 0.999 0.588 P . . . . . . -1.68 0.401 N . . -0.936 0.432 T 0.000 0.000 T . . . 0.615 0.153 8.262 0.714 0.093 0.081 0.139 N c -0.289 -0.305 0.298 0.192 0.624 0.395 0 0.712 0.172 -0.209 0.093 0.123 0.211 0.863 0.304 0.997 0.653 3.645 0.077 . ENSG00000106290.10|ENSG00000221838.5|ENSG00000106290.10|ENSG00000166529.10|ENSG00000221838.5|ENSG00000221838.5|ENSG00000106290.10|ENSG00000221838.5|ENSG00000188186.6|ENSG00000188186.6|ENSG00000221838.5|ENSG00000221838.5|ENSG00000166529.10|ENSG00000106290.10|ENSG00000221838.5|ENSG00000221838.5|ENSG00000221838.5|ENSG00000213420.3|ENSG00000197093.6|ENSG00000106290.10|ENSG00000221838.5|ENSG00000221838.5|ENSG00000166529.10|ENSG00000272752.1|ENSG00000121716.14|ENSG00000106290.10|ENSG00000221838.5|ENSG00000221838.5|ENSG00000213420.3|ENSG00000213420.3|ENSG00000221838.5|ENSG00000221838.5|ENSG00000188186.6|ENSG00000106290.10|ENSG00000221838.5|ENSG00000221838.5|ENSG00000146826.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5516 0.4994 0.4530 0.6184 0.6460 0.5634 0.5536 0.5470 0.5955 0.5304 0.4845 0.4570 0.6324 0.6278 0.5641 0.5388 0.5612 het 4262.33 247 7 99758136 . T G 4262.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.734;DP=247;DS;Dels=0.00;FS=0.980;HRun=1;HaplotypeScore=5.2729;MQ=59.15;MQ0=0;MQRankSum=1.871;QD=17.26;ReadPosRankSum=0.987;VQSLOD=4.5418;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,120:247:99:3608,0,3349 7 99796146 99796146 A C exonic STAG3 synonymous SNV STAG3:NM_001282718:exon11:c.A1119C:p.P373P,STAG3:NM_001282716:exon13:c.A1293C:p.P431P,STAG3:NM_001282717:exon13:c.A1293C:p.P431P,STAG3:NM_012447:exon13:c.A1293C:p.P431P 0.5 0.37 0.63 0.68 0.5 0.41 0.4975 0.4034 0.6662 0.6890 0.5083 0.4788 0.4868 0.4103 0.47 0.41 0.5 0.5 0.45 rs3735241 COSM3982310 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5126 0.3927 0.6701 0.5379 0.6949 0.5075 0.4809 0.5007 0.4107 0.4710 0.3866 0.6146 0.53 0.6890 0.5129 0.4757 0.4980 het 1841.64 161 7 99796146 . A C 1841.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.370;DP=161;Dels=0.00;FS=1.311;HRun=3;HaplotypeScore=8.0981;MQ=58.80;MQ0=1;MQRankSum=-2.070;QD=11.44;ReadPosRankSum=0.570;VQSLOD=3.4285;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,80:161:99:1872,0,2203 7 99799845 99799845 T A exonic STAG3 synonymous SNV STAG3:NM_001282718:exon22:c.T2271A:p.I757I,STAG3:NM_001282716:exon24:c.T2445A:p.I815I,STAG3:NM_001282717:exon24:c.T2445A:p.I815I,STAG3:NM_012447:exon24:c.T2445A:p.I815I 0.39 0.33 0.52 0.62 0.27 0.28 0.3176 0.3383 0.5709 0.6213 0.2860 0.2519 0.2737 0.2485 0.29 0.34 0.26 0.4 0.2 rs1043915 COSM3982311 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3295 0.3283 0.5671 0.1860 0.6286 0.2768 0.2601 0.2870 0.2466 0.3039 0.3179 0.4928 0.1887 0.6253 0.2798 0.2604 0.2740 het 2851.24 222 7 99799845 . T A 2851.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.211;DP=222;Dels=0.00;FS=6.505;HRun=0;HaplotypeScore=1.7883;MQ=59.01;MQ0=0;MQRankSum=0.897;QD=12.84;ReadPosRankSum=-0.128;VQSLOD=5.0894;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,109:222:99:2881,0,2952 7 99817859 99817859 A G exonic PVRIG nonsynonymous SNV PVRIG:NM_024070:exon3:c.A241G:p.N81D 0.66 0.85 0.5 0.38 0.73 0.72 0.7468 0.8237 0.5600 0.4591 0.7508 0.7766 0.7682 0.7656 0.76 0.81 0.74 0.62 0.5 rs2906645 COSM1132895 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -0.975 0.012 N 1.07 0.396 T 2.21 0.003 N 0.008 0.000 -0.976 0.359 T 0.000 0.000 T . . . -1.536 0.016 0.002 0.347 0.021 0.006 0.026 N c -1.533 -1.489 1.000 0.473 0.660 0.495 0 1.75 0.236 0.019 0.132 -0.108 0.116 0.000 0.063 0.014 0.122 4.918 0.131 . ENSG00000121716.14|ENSG00000166924.4|ENSG00000146833.11|ENSG00000221838.5|ENSG00000085514.11|ENSG00000213420.3|ENSG00000197093.6|ENSG00000066923.13|ENSG00000146833.11|ENSG00000221838.5|ENSG00000272752.1|ENSG00000121716.14|ENSG00000146833.11|ENSG00000085514.11|ENSG00000106290.10|ENSG00000146833.11|ENSG00000066923.13|ENSG00000213420.3|ENSG00000146826.10|ENSG00000146833.11|ENSG00000146833.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Testis|Thyroid 0.6818 0.8255 0.4493 0.8147 0.3749 0.7243 0.7419 0.7190 0.7558 0.7390 0.8297 0.5143 0.8113 0.3738 0.7209 0.7410 0.7408 het 201.31 13 7 99817859 . A G 201.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.774;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-0.386;QD=15.49;ReadPosRankSum=0.540;VQSLOD=6.8664;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,9:13:91.78:231,0,92 7 99971313 99971313 T C exonic PILRA synonymous SNV PILRA:NM_013439:exon1:c.T34C:p.L12L,PILRA:NM_178272:exon1:c.T34C:p.L12L,PILRA:NM_178273:exon1:c.T34C:p.L12L 0.66 0.91 0.5 0.39 0.68 0.71 0.6667 0.8715 0.4284 0.3855 0.6836 0.6970 0.7059 0.7198 0.75 0.86 0.69 0.63 0.66 rs2405442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6498 0.8758 0.4319 0.7293 0.3796 0.6893 0.6909 0.6740 0.7194 0.7227 0.8721 0.5036 0.7013 0.3814 0.6843 0.6963 0.6888 het 1106.63 122 7 99971313 . T C 1106.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.298;DP=122;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.7100;MQ=59.45;MQ0=0;MQRankSum=0.158;QD=9.07;ReadPosRankSum=0.995;VQSLOD=5.4478;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,45:122:99:1137,0,1957 7 100228635 100228635 T C exonic TFR2 nonsynonymous SNV TFR2:NM_001206855:exon6:c.A634G:p.S212G,TFR2:NM_003227:exon9:c.A1147G:p.S383G . . . . . . 0.0222 0.0734 0.1117 0.0547 0.0437 0.0128 0 0.2627 . . . . . rs755112053 COSM3747695 1(liver);4(thyroid);22(upper_aerodigestive_tract);1(central_nervous_system) . . . . . . . . . . . 0.569 0.062 T 0.0 0.026 B 0.001 0.040 B 0.076 0.023 N 1 0.090 N -1.14 0.009 N 1.07 0.396 T -0.26 0.112 N 0.084 0.227 -0.949 0.412 T 0.023 0.099 T . . . -0.797 0.040 0.043 0.984 0.401 0.034 0.084 N c -1.528 -1.408 0.973 0.293 0.516 0.203 0 -1.34 0.086 0.590 0.235 0.060 0.166 0.000 0.063 0.422 0.258 2.924 0.054 . . . 0.0213 0.0329 0.0043 0.0177 0.0074 0.0450 0.0269 0.0200 0.0238 6.666e-05 0 0 0 0 0 0.0001 0 het 136.51 20 7 100228635 . T C 136.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.139;DP=20;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=0.488;QD=6.83;ReadPosRankSum=0.054;VQSLOD=5.1262;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:20:99:167,0,291 7 100281768 100281768 T C exonic GIGYF1 synonymous SNV GIGYF1:NM_022574:exon15:c.A1743G:p.P581P 0.86 0.88 0.9 0.92 0.82 0.79 0.8459 0.8777 0.8935 0.9364 0.7984 0.8433 0.8468 0.7749 0.86 0.87 0.85 0.76 0.73 rs221794 COSM451988;COSM451987 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8477 0.8783 0.8970 0.9068 0.9322 0.7938 0.8404 0.8537 0.7717 0.8516 0.8766 0.8950 0.8907 0.9431 0.8103 0.8358 0.8170 hom 528.57 19 7 100281768 . T C 528.57 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;QD=27.82;VQSLOD=7.9507;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:45.13:562,45,0 7 100371100 100371100 C A exonic ZAN unknown UNKNOWN 0.48 0.7 0.38 0.18 0.58 0.48 0.5031 0.6921 0.3068 0.1648 0.4691 0.5505 0.5204 0.5291 0.6 0.69 0.56 0.54 . rs2734880 . . . . . . . . . . . . . . . . 0.0 0.067 B 0.004 0.093 B 0.002 0.008 N 1 0.090 P -0.345 0.033 N 3.62 0.044 T 0.22 0.047 N 0.168 0.355 -0.959 0.394 T 0.000 0.000 T . . . -1.301 0.022 0.004 0.246 0.011 0.002 0.011 N c -2.205 -2.250 0.977 0.297 0.054 0.004 0 -9.15 0.006 -0.251 0.088 -2.197 0.004 0.000 0.063 0.000 0.016 1.285 0.019 TILa domain;TILa domain|VWFC domain ENSG00000087085.9|ENSG00000196411.5 Artery_Aorta|Whole_Blood 0.4937 0.6985 0.3257 0.4726 0.1689 0.4722 0.5616 0.5148 0.5336 0.5532 0.6944 0.3890 0.5 0.1640 0.4604 0.5464 0.5276 hom 1591.44 52 7 100371100 . C A 1591.44 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.71;MQ0=0;QD=30.60;VQSLOD=9.1219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1624,129,0 7 100371114 100371114 C T exonic ZAN unknown UNKNOWN 0.48 0.7 0.38 0.18 0.58 0.48 0.5013 0.6926 0.3028 0.1630 0.4677 0.5482 0.5204 0.5289 0.6 0.69 0.56 0.54 . rs314298 . . . . . . . . . . . . . . . . 0.244 0.305 B 0.057 0.286 B 0.893 0.073 N 0.999 0.588 P 2.015 0.552 M 3.33 0.062 T -4.06 0.745 D 0.056 0.260 -1.035 0.189 T 0.000 0.000 T . . . 1.137 0.203 11.41 0.996 0.725 0.136 0.177 N c -0.689 -0.740 0.003 0.098 0.054 0.004 0 0.249 0.147 0.903 0.279 0.801 0.324 0.001 0.137 0.952 0.428 2.904 0.053 TILa domain;TILa domain|VWFC domain ENSG00000087085.9|ENSG00000196411.5 Artery_Aorta|Whole_Blood 0.4923 0.6979 0.3242 0.4732 0.1670 0.4715 0.5601 0.5148 0.5333 0.5532 0.6939 0.3890 0.4967 0.1646 0.4596 0.5468 0.5276 hom 1162.31 39 7 100371114 . C T 1162.31 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.27;MQ0=0;QD=29.80;VQSLOD=8.2719;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1195,102,0 7 100371473 100371473 C T exonic ZAN unknown UNKNOWN 0.24 0.13 0.28 0.033 0.51 0.29 0.5146 0.2265 0.4104 0.1335 0.5641 0.5911 0.5324 0.4588 . . . 0.25 . rs314299 COSM1446677;COSM1446675;COSM1446676 11(upper_aerodigestive_tract);2(central_nervous_system) Benign not_specified RCV000455205.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . 0.991 0.241 P . . . . . . . . . . . . . . . . . . . . 4.091 0.549 23.7 0.984 0.406 0.300 0.237 N c -0.026 -0.227 0.000 0.038 0.078 0.014 0 2.64 0.304 0.828 0.269 -0.023 0.128 0.705 0.284 0.029 0.146 9.925 0.405 TILa domain|VWFC domain|von Willebrand factor\x2c type D domain;TILa domain|von Willebrand factor\x2c type D domain . . 0.4959 0.1931 0.3927 0.4926 0.1162 0.5456 0.5875 0.5166 0.4468 0.4401 0.1932 0.4611 0.5278 0.1011 0.5365 0.5833 0.5356 hom 602.73 20 7 100371473 . C T 602.73 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9846;MQ=60.00;MQ0=0;QD=30.14;VQSLOD=7.0534;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.16:636,48,0 7 100371479 100371479 G C exonic ZAN unknown UNKNOWN 0.0094 . 0.0086 . 0.029 0.012 0.0261 0.0027 0.0165 0 0.0417 0.0366 0.0161 0.0147 . . . 0.011 . rs71555302 COSM4591313;COSM4591314;COSM4591315 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . 0.998 0.715 D 0.899 0.657 P 0.034 0.248 N 0.996 0.230 N . . . . . . . . . . . 0.076 0.837 D 0.759 0.918 D . . . 2.804 0.398 21.4 0.956 0.267 0.647 0.322 D c 0.174 0.058 0.000 0.053 0.078 0.014 0 3.4 0.379 1.634 0.365 -0.036 0.125 0.101 0.226 0.026 0.142 8.520 0.322 TILa domain|von Willebrand factor\x2c type D domain . . 0.0200 0.0024 0.0107 0.0515 0 0.0299 0.0253 0.0216 0.0133 0.0191 0.0052 0.0085 0.0369 0 0.0289 0.0270 0.0227 het 321.78 22 7 100371479 . G C 321.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.601;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.267;QD=14.63;ReadPosRankSum=2.137;VQSLOD=11.0733;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:352,0,218 7 100374087 100374087 A G exonic ZAN unknown UNKNOWN 0.25 0.13 0.28 0.033 0.54 0.29 0.4658 0.2349 0.3193 0.0498 0.5129 0.5625 0.4986 0.4128 0.42 0.2 0.52 0.25 . rs314300 . . . . . . . . . . . . . . . . 1.0 0.899 D 0.996 0.875 D 0.000 0.481 D 0.815 0.289 P . . . . . . . . . 0.08 0.265 -0.871 0.505 T 0.000 0.000 T . . . 2.688 0.384 20.7 0.988 0.458 0.985 0.828 D c 0.507 0.436 0.988 0.313 0.054 0.004 0 4.82 0.615 7.890 0.857 1.155 0.901 1.000 0.715 0.203 0.218 11.376 0.488 von Willebrand factor\x2c type D domain ENSG00000146828.13|ENSG00000087085.9|ENSG00000196411.5 Small_Intestine_Terminal_Ileum|Thyroid|Whole_Blood 0.4052 0.1869 0.2411 0.4411 0.0376 0.4629 0.5337 0.4470 0.3779 0.3878 0.1940 0.3158 0.4868 0.0346 0.4544 0.5203 0.4652 hom 671.51 25 7 100374087 . A G 671.51 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.208;DP=25;Dels=0.00;FS=3.188;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=-0.208;QD=26.86;ReadPosRankSum=-0.347;VQSLOD=3.9405;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,24:25:21.61:704,22,0 7 100386900 100386900 T C exonic ZAN unknown UNKNOWN 0.94 0.94 0.93 0.97 0.92 0.92 0.9338 0.9510 0.9567 0.9759 0.9200 0.9278 0.9298 0.9158 0.93 0.96 0.92 0.9 . rs191137 COSM4161407;COSM4161409;COSM4161408 1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.048 0.233 N 1 0.090 P . . . . . . . . . 0.114 0.344 -0.940 0.427 T 0.000 0.000 T . . . -0.544 0.053 0.171 0.696 0.087 0.001 0.009 N c -1.150 -1.140 0.957 0.282 0.054 0.006 0 2.79 0.317 -0.056 0.116 -0.424 0.059 0.000 0.063 0.001 0.043 6.037 0.188 von Willebrand factor\x2c type D domain ENSG00000146828.13 Skin_Sun_Exposed_Lower_leg 0.9334 0.9524 0.9553 0.9119 0.9739 0.9138 0.9286 0.9276 0.9165 0.9388 0.9489 0.9594 0.9272 0.9735 0.9081 0.9360 0.9286 hom 2480.18 80 7 100386900 . T C 2480.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.043;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9791;MQ=57.70;MQ0=0;MQRankSum=-1.213;QD=31.00;ReadPosRankSum=-0.260;VQSLOD=7.2872;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,79:80:99:2513,174,0 7 100388628 100388628 C A exonic ZAN unknown UNKNOWN 0.0034 . 0.0029 . 0.015 . 0.0115 0.0018 0.0031 0 0.0328 0.0161 0.0080 0.0006 0.0092 0.0021 0.013 . . rs77705466 . . . . . . . . . . . . . . . . 0.403 0.345 B 0.224 0.404 B 0.141 0.183 N 0.918 0.366 D . . . . . . . . . 0.126 0.143 -0.834 0.531 T 0.101 0.375 T . . . 0.349 0.128 6.155 0.348 0.021 0.255 0.225 N c -0.496 -0.586 0.317 0.193 0.054 0.004 0 3.67 0.411 0.506 0.222 0.848 0.348 0.000 0.063 0.001 0.043 9.207 0.363 von Willebrand factor\x2c type D domain . . 0.0106 0.0013 0.0041 0.0203 0 0.0276 0.0140 0.0103 0.0004 0.0126 0.0027 0.0048 0.0265 0 0.0275 0.0161 0.0163 het 142.59 19 7 100388628 . C A 142.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.479;DP=19;Dels=0.00;FS=1.871;HRun=2;HaplotypeScore=2.8306;MQ=57.77;MQ0=0;MQRankSum=-0.042;QD=7.50;ReadPosRankSum=0.803;VQSLOD=4.0059;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:173,0,361 7 100391581 100391581 T C exonic ZAN unknown UNKNOWN 0.34 0.43 0.32 0.066 0.54 0.33 0.4451 0.4551 0.2689 0.0708 0.4732 0.5284 0.4809 0.4088 0.5 0.45 0.52 0.47 . rs314339 COSM4161410 1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B . . . 0.000 0.588 P . . . . . . . . . 0.12 0.434 . . . . . . . . . 0.982 0.188 10.56 0.400 0.028 0.023 0.065 N n -0.004 -0.008 1.000 0.489 0.075 0.014 0 -4.35 0.034 -2.225 0.013 -1.753 0.007 0.000 0.063 0.001 0.043 12.568 0.555 . ENSG00000146830.9|ENSG00000087085.9|ENSG00000196411.5 Adipose_Subcutaneous|Esophagus_Mucosa|Whole_Blood 0.4374 0.4498 0.2861 0.4374 0.0692 0.4710 0.5363 0.4647 0.4165 0.4650 0.4477 0.3421 0.4901 0.0630 0.4596 0.5249 0.4857 hom 1704.46 58 7 100391581 . T C 1704.46 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.39;VQSLOD=13.5851;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1737,147,0 7 100395003 100395003 G C exonic ZAN unknown UNKNOWN 0.38 0.42 0.39 0.064 0.63 0.4 0.5066 0.4584 0.3262 0.0709 0.5525 0.6003 0.5390 0.4897 0.56 0.47 0.61 0.51 . rs314344 COSM3927840;COSM150341 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(prostate);1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.131 0.186 N 1 0.090 P . . . . . . . . . 0.135 0.156 -0.928 0.444 T 0.000 0.000 T . . . -1.401 0.019 0.003 0.190 0.006 0.000 0.002 N c -1.208 -1.195 0.916 0.265 0.060 0.007 0 3.05 0.341 1.150 0.310 -0.420 0.060 0.081 0.222 0.001 0.043 5.844 0.178 . ENSG00000146830.9|ENSG00000196411.5 Adipose_Subcutaneous|Whole_Blood 0.5010 0.4517 0.3436 0.5303 0.0707 0.5574 0.6074 0.5353 0.4964 0.5121 0.4532 0.3957 0.5629 0.0683 0.5504 0.5880 0.5501 hom 1482.11 45 7 100395003 . G C 1482.11 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.07;MQ0=0;QD=32.94;VQSLOD=8.6253;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1515,120,0 7 100411278 100411278 T C exonic EPHB4 synonymous SNV EPHB4:NM_004444:exon10:c.A1752G:p.G584G 0.58 0.46 0.67 0.63 0.63 0.56 0.6080 0.4897 0.6987 0.6515 0.5721 0.6040 0.6244 0.6262 0.57 0.49 0.61 0.61 0.59 rs314359 COSM3762244 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6139 0.4816 0.6996 0.5380 0.6465 0.5773 0.6099 0.6177 0.6322 0.5625 0.4802 0.6890 0.57 0.6458 0.5679 0.5900 0.6078 hom 8713.57 249 7 100411278 . T C 8713.57 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.5612;MQ=58.97;MQ0=0;QD=34.99;VQSLOD=8.0754;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8713,689,0 7 100416250 100416250 A G exonic EPHB4 synonymous SNV EPHB4:NM_004444:exon7:c.T1314C:p.S438S 0.56 0.41 0.67 0.64 0.63 0.56 0.6059 0.4579 0.6947 0.6518 0.5744 0.6048 0.6287 0.6277 0.56 0.46 0.61 0.63 0.57 rs144173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6112 0.4467 0.6964 0.5371 0.6468 0.5778 0.6089 0.6138 0.6325 0.5521 0.4464 0.6842 0.5662 0.6435 0.5676 0.5890 0.6072 hom 1399.95 48 7 100416250 . A G 1399.95 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.17;VQSLOD=13.8256;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1433,114,0 7 100458795 100458795 T C exonic SLC12A9 synonymous SNV SLC12A9:NM_001267814:exon8:c.T987C:p.A329A,SLC12A9:NM_001267812:exon10:c.T1254C:p.A418A,SLC12A9:NM_020246:exon10:c.T1254C:p.A418A 0.58 0.42 0.65 0.81 0.52 0.57 0.5689 0.4490 0.7271 0.8180 0.5248 0.5266 0.5916 0.5905 0.5 0.45 0.52 0.47 0.45 rs314378 COSM4004178;COSM4004177 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5758 0.4399 0.7154 0.5670 0.8128 0.5205 0.5240 0.5628 0.5912 0.5119 0.4418 0.6811 0.5464 0.8072 0.5132 0.5082 0.5448 hom 5828.98 183 7 100458795 . T C 5828.98 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8893;MQ=59.29;MQ0=0;QD=31.85;VQSLOD=9.5558;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:5828,472,0 7 100466441 100466441 G A exonic TRIP6 nonsynonymous SNV TRIP6:NM_003302:exon4:c.G688A:p.V230I 0.27 0.058 0.46 0.45 0.26 0.26 0.3076 0.1126 0.5155 0.4568 0.2789 0.2815 0.3255 0.2743 0.22 0.11 0.27 0.23 0.14 rs2075756 COSM3762245 1(pancreas);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.402 0.104 T 0.0 0.026 B 0.0 0.013 B 0.149 0.029 N 0.999 0.211 P 0.55 0.145 N 0.25 0.595 T -0.25 0.110 N 0.095 0.095 -1.037 0.183 T 0.000 0.000 T . . . 1.589 0.253 13.79 0.995 0.687 0.324 0.244 N c -0.485 -0.404 1.000 0.747 0.543 0.218 0 5.09 0.685 1.504 0.351 0.956 0.564 0.809 0.296 0.041 0.157 13.960 0.635 . ENSG00000176125.3|ENSG00000087087.14|ENSG00000196411.5|ENSG00000087077.7|ENSG00000087077.7|ENSG00000087085.9|ENSG00000169894.13|ENSG00000225946.1|ENSG00000176125.3|ENSG00000087087.14|ENSG00000087077.7|ENSG00000176125.3 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Liver|Liver|Liver|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Stomach|Whole_Blood 0.2999 0.1031 0.4867 0.2385 0.4475 0.2686 0.2764 0.2989 0.2658 0.2324 0.1011 0.4689 0.2267 0.4516 0.2663 0.2627 0.2587 het 604.21 29 7 100466441 . G A 604.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.829;DP=29;Dels=0.00;FS=2.741;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.253;QD=20.83;ReadPosRankSum=-0.394;VQSLOD=4.9702;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,26:29:58.44:634,0,58 7 100468284 100468284 A G exonic TRIP6 synonymous SNV TRIP6:NM_003302:exon6:c.A918G:p.V306V 0.56 0.36 0.65 0.81 0.51 0.56 0.5621 0.3929 0.7256 0.8183 0.5270 0.5260 0.5850 0.5782 0.48 0.4 0.52 0.46 0.46 rs1054391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5700 0.3824 0.7130 0.5646 0.8128 0.5209 0.5235 0.5591 0.5790 0.4963 0.3882 0.6778 0.5464 0.8084 0.5138 0.5074 0.5412 hom 2567.87 78 7 100468284 . A G 2567.87 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.81;MQ0=0;QD=32.92;VQSLOD=8.8330;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2601,205,0 7 100482026 100482026 T C exonic SRRT synonymous SNV SRRT:NM_001128852:exon7:c.T795C:p.L265L,SRRT:NM_001128853:exon7:c.T795C:p.L265L,SRRT:NM_001128854:exon7:c.T795C:p.L265L,SRRT:NM_015908:exon7:c.T795C:p.L265L 0.58 0.41 0.65 0.81 0.52 0.57 0.5690 0.4489 0.7278 0.8166 0.5237 0.5269 0.5930 0.5913 0.5 0.44 0.52 0.41 0.4 rs15624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5752 0.4372 0.7164 0.5673 0.8116 0.5181 0.5231 0.5631 0.5918 0.5110 0.4391 0.6845 0.55 0.8068 0.5120 0.5085 0.5444 hom 1061.63 35 7 100482026 . T C 1061.63 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=30.33;VQSLOD=8.9933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:84.27:1095,84,0 7 100486656 100486656 T G exonic UFSP1 synonymous SNV UFSP1:NM_001015072:exon1:c.A237C:p.V79V 0.65 0.61 0.69 0.82 0.54 0.62 0.6065 0.6133 0.7471 0.8315 0.5339 0.5502 0.6159 0.6419 0.57 0.61 0.55 0.65 0.49 rs13241786 COSM150343 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6105 0.6099 0.7364 0.6125 0.8256 0.5306 0.5465 0.5907 0.6455 0.5719 0.6039 0.6986 0.58 0.8234 0.5261 0.5294 0.5755 hom 3634.42 123 7 100486656 . T G 3634.42 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4442;MQ=58.77;MQ0=0;QD=29.55;VQSLOD=8.7412;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3634,298,0 7 100486754 100486754 G C exonic UFSP1 nonsynonymous SNV UFSP1:NM_001015072:exon1:c.C139G:p.L47V 0.088 0.042 0.1 0.031 0.18 0.1 0.1560 0.0519 0.1242 0.0381 0.2127 0.1953 0.1644 0.1231 0.14 0.056 0.18 0.065 0.12 rs12666989 COSM4161413 5(soft_tissue);1(thyroid) . . . . . Resting heart rate . 7.00 20639392 rs12666989 2E-8 0.681 0.044 T 0.77 0.419 P 0.353 0.411 B 0.268 0.152 N 1.000 0.206 P . . . 1.56 0.296 T 0.43 0.033 N 0.156 0.186 -1.026 0.217 T 0.000 0.000 T . . . -1.813 0.011 0.002 0.427 0.031 0.268 0.229 N c -0.684 -0.765 1.000 0.747 0.267 0.040 1 2.54 0.295 0.613 0.238 -0.358 0.068 0.502 0.267 0.009 0.108 7.534 0.267 . ENSG00000087085.9|ENSG00000087085.9|ENSG00000087087.14|ENSG00000087085.9|ENSG00000087085.9|ENSG00000087085.9|ENSG00000087085.9|ENSG00000087087.14|ENSG00000087087.14|ENSG00000087085.9|ENSG00000087077.7|ENSG00000087085.9|ENSG00000087085.9|ENSG00000087085.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.1543 0.0482 0.1291 0.2101 0.0394 0.2103 0.1867 0.1565 0.1249 0.1428 0.0534 0.1241 0.2318 0.0333 0.2111 0.1874 0.1866 het 800.62 60 7 100486754 . G C 800.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.118;DP=60;Dels=0.00;FS=7.558;HRun=1;HaplotypeScore=3.6458;MQ=58.84;MQ0=0;MQRankSum=1.124;QD=13.34;ReadPosRankSum=0.606;VQSLOD=4.2079;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,31:60:99:831,0,839 7 100552017 100552017 C T exonic MUC3A synonymous SNV MUC3A:NM_005960:exon4:c.C2598T:p.F866F 0.43 0.45 0.29 0.52 0.46 0.36 0.3465 0.3427 0.2570 0.3843 0.3830 0.3652 0.3558 0.2776 0.35 0.34 0.36 0.28 . rs9691167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3382 0.3404 0.2587 0.3365 0.3858 0.3860 0.3621 0.3334 0.2732 0.3725 0.3379 0.2940 0.3912 0.3899 0.3737 0.3946 0.3571 het 5530.40 250 7 100552017 . C T 5530.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.340;DP=250;DS;Dels=0.00;FS=2.391;HRun=2;HaplotypeScore=5.4377;MQ=58.84;MQ0=0;MQRankSum=1.230;QD=22.12;ReadPosRankSum=1.162;VQSLOD=3.2940;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,151:250:99:4795,0,2486 7 100552018 100552018 T G exonic MUC3A nonsynonymous SNV MUC3A:NM_005960:exon4:c.T2599G:p.S867A . . . . . . 0.4997 0.4998 0.5 0.4994 0.5 0.4997 0.5 0.4997 . . . . . rs76249962 COSM304009;COSM304010 2(upper_aerodigestive_tract);1(central_nervous_system) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . 0.345 0.112 N . . . . . . 0.045 0.025 -0.963 0.386 T 0.009 0.034 T . . . -2.162 0.006 0.001 0.430 0.032 0.002 0.011 N c -2.265 -2.348 1.000 0.517 0.633 0.409 0 -2.02 0.069 -3.961 0.004 -1.849 0.006 0.000 0.063 0.000 0.016 3.66 0.077 . . . 0.4982 0.4991 0.4966 0.4976 0.4987 0.4992 0.4986 0.4964 0.4972 0.4125 0.4937 0.4869 0.2020 0.4981 0.4997 0.3326 0.4602 het 2737.39 250 7 100552018 . T G 2737.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.879;DP=250;DS;Dels=0.00;FS=3.140;HRun=0;HaplotypeScore=5.4377;MQ=58.84;MQ0=0;MQRankSum=0.463;QD=10.95;ReadPosRankSum=-1.402;VQSLOD=4.1579;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:150,100:250:99:2767,0,4543 7 100552020 100552020 C T exonic MUC3A synonymous SNV MUC3A:NM_005960:exon4:c.C2601T:p.S867S . . . . . . 0.4997 0.4998 0.5 0.4994 0.5 0.4997 0.5 0.4997 . . . . . rs78680358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4984 0.4995 0.4965 0.4975 0.4989 0.4992 0.4988 0.4967 0.4978 0.4125 0.4937 0.4869 0.2020 0.4981 0.4997 0.3326 0.4602 het 2674.86 250 7 100552020 . C T 2674.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.430;DP=250;DS;Dels=0.00;FS=1.704;HRun=0;HaplotypeScore=4.5495;MQ=58.84;MQ0=0;MQRankSum=1.033;QD=10.70;ReadPosRankSum=-1.468;VQSLOD=4.6659;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:150,100:250:99:2705,0,4861 7 100552044 100552044 T G exonic MUC3A synonymous SNV MUC3A:NM_005960:exon4:c.T2625G:p.S875S . . . . . . 0.4999 0.5 0.5 0.5 0.5 0.4999 0.5 0.4999 . . . 0.21 . rs73714250 COSM4161513;COSM4161512 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4973 0.4976 0.4954 0.4966 0.4960 0.4994 0.4980 0.4950 0.4970 0.4124 0.4937 0.4869 0.2020 0.4981 0.4997 0.3324 0.4602 het 2671.80 250 7 100552044 . T G 2671.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.721;DP=250;DS;Dels=0.00;FS=3.937;HRun=0;HaplotypeScore=8.5788;MQ=58.65;MQ0=0;MQRankSum=-1.202;QD=10.69;ReadPosRankSum=0.720;VQSLOD=3.0314;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:150,100:250:99:2702,0,4691 7 100552094 100552094 G C exonic MUC3A nonsynonymous SNV MUC3A:NM_005960:exon4:c.G2675C:p.G892A . . . . . . 0.5067 0.5600 0.5012 0.5001 0.5 0.5001 0.5014 0.5219 0.52 0.55 0.5 0.49 . rs62483698 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . -0.695 0.019 N . . . . . . 0.026 0.008 -0.952 0.407 T 0.000 0.000 T . . . -2.183 0.006 0.001 0.548 0.051 0.000 0.001 N c -1.542 -1.556 0.999 0.377 0.581 0.330 0 1.5 0.219 -0.110 0.107 -0.234 0.093 0.000 0.063 0.000 0.016 7.630 0.272 . . . 0.5067 0.5615 0.4992 0.4997 0.4983 0.4995 0.4997 0.5016 0.5200 0.4322 0.5502 0.4881 0.2252 0.4981 0.4997 0.3399 0.4633 het 2658.40 249 7 100552094 . G C 2658.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.303;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7982;MQ=58.88;MQ0=0;MQRankSum=0.395;QD=10.68;ReadPosRankSum=0.279;VQSLOD=5.7676;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:152,96:249:99:2688,0,4770 7 100552117 100552117 G T exonic MUC3A nonsynonymous SNV MUC3A:NM_005960:exon4:c.G2698T:p.A900S 0.0004 0.0015 . . . . 0.4996 0.4998 0.5 0.4993 0.5 0.4995 0.5 0.4997 . . . 0.4 . rs62483699 COSM4593927;COSM4593928 3(upper_aerodigestive_tract) . . . . . . . . . . . . . . 0.917 0.488 P 0.292 0.390 B . . . . . . 0.695 0.181 N . . . . . . 0.16 0.192 -1.066 0.103 T 0.008 0.028 T . . . -0.647 0.047 0.096 0.715 0.093 0.009 0.036 N c -0.926 -1.044 0.999 0.379 0.633 0.409 0 1.5 0.219 -0.358 0.076 0.611 0.288 0.000 0.063 0.015 0.124 3.879 0.085 . . . 0.4988 0.4981 0.4977 0.4990 0.4981 0.4996 0.4992 0.4987 0.4985 0.4125 0.4937 0.4869 0.2020 0.4981 0.4997 0.3327 0.4602 het 2669.87 250 7 100552117 . G T 2669.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.778;DP=250;DS;Dels=0.00;FS=0.473;HRun=1;HaplotypeScore=5.6541;MQ=58.88;MQ0=0;MQRankSum=0.188;QD=10.68;ReadPosRankSum=-0.697;VQSLOD=4.5392;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:150,100:250:99:2700,0,4793 7 100552135 100552135 T C exonic MUC3A nonsynonymous SNV MUC3A:NM_005960:exon4:c.T2716C:p.S906P 0.0002 . . . 0.001 . 0.4997 0.4998 0.5 0.4998 0.5 0.4996 0.5 0.4997 . . . 0.4 . rs62483700 COSM4593534;COSM4593535 4(upper_aerodigestive_tract) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . -0.805 0.016 N . . . . . . 0.065 0.051 -0.922 0.454 T 0.008 0.029 T . . . -2.037 0.007 0.001 0.630 0.069 0.000 0.003 N c -1.705 -1.749 0.999 0.372 0.633 0.409 0 -0.681 0.107 -2.278 0.012 -0.230 0.094 0.000 0.063 0.001 0.043 2.981 0.055 . . . 0.4991 0.4993 0.4976 0.4997 0.4990 0.4994 0.4995 0.4990 0.4987 0.4125 0.4937 0.4869 0.2020 0.4981 0.4997 0.3326 0.4602 het 2514.27 246 7 100552135 . T C 2514.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.110;DP=246;DS;Dels=0.00;FS=5.303;HRun=1;HaplotypeScore=7.9709;MQ=58.75;MQ0=0;MQRankSum=0.163;QD=10.22;ReadPosRankSum=-0.218;VQSLOD=3.6741;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:148,98:246:99:2544,0,4342 7 100552251 100552251 T C exonic MUC3A synonymous SNV MUC3A:NM_005960:exon4:c.T2832C:p.S944S 0.43 0.45 0.29 0.52 0.46 0.36 0.6068 0.6030 0.5499 0.6433 0.6369 0.6168 0.6148 0.5605 . . . 0.58 . rs9691900 COSM4595285;COSM4595284 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6045 0.6000 0.5553 0.6094 0.649 0.6396 0.6180 0.5964 0.5629 0.5917 0.6020 0.5550 0.4868 0.6663 0.6380 0.5705 0.6010 hom 8803.38 249 7 100552251 . T C 8803.38 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.5549;MQ=56.06;MQ0=0;QD=35.35;VQSLOD=3.6713;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8802,710,0 7 100552915 100552915 A C exonic MUC3A synonymous SNV MUC3A:NM_005960:exon5:c.A3390C:p.G1130G 0.96 0.98 0.94 1. 0.92 0.94 0.9331 0.9689 0.9581 0.9996 0.9473 0.9181 0.9267 0.9155 0.93 0.96 0.91 0.96 . rs2904852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9339 0.9702 0.9607 0.9030 0.9996 0.9486 0.9164 0.9258 0.9167 0.9399 0.9706 0.9475 0.8974 1 0.9588 0.9127 0.9236 hom 6807.40 211 7 100552915 . A C 6807.40 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=55.83;MQ0=0;QD=32.26;VQSLOD=3.7531;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6806,544,0 7 100553002 100553002 A G exonic MUC3A synonymous SNV MUC3A:NM_005960:exon5:c.A3477G:p.K1159K . . . . . . 0.4999 0.5 0.5 0.5 0.5 0.4999 0.5 0.4999 . . . 0.5 . rs68094465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4999 0.5 0.4998 0.4997 0.4998 0.4998 0.4999 0.5 0.5 0.4124 0.4937 0.4869 0.2020 0.4981 0.4997 0.3324 0.4603 het 1535.20 122 7 100553002 . A G 1535.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.151;DP=122;Dels=0.00;FS=7.266;HRun=0;HaplotypeScore=5.9931;MQ=58.01;MQ0=0;MQRankSum=-0.218;QD=12.58;ReadPosRankSum=0.776;VQSLOD=3.5101;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,60:122:99:1565,0,1676 7 100608778 100608778 T C exonic MUC3A synonymous SNV MUC3A:NM_005960:exon10:c.T3987C:p.P1329P 0.0008 0.0023 0.0014 . . . 0.5001 0.5001 0.5 0.5 0.5 0.5001 0.5 0.5001 . . . . . rs73163792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4998 0.4999 0.4996 0.4999 0.4993 0.5001 0.5000 0.4994 0.4998 0.4127 0.4938 0.4869 0.2020 0.4981 0.4997 0.3329 0.4603 het 1286.49 101 7 100608778 . T C 1286.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.734;DP=101;Dels=0.00;FS=0.755;HRun=3;HaplotypeScore=3.5441;MQ=57.96;MQ0=0;MQRankSum=-0.791;QD=12.74;ReadPosRankSum=1.409;VQSLOD=3.9986;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,51:101:99:1316,0,1365 7 100608779 100608779 C T exonic MUC3A synonymous SNV MUC3A:NM_005960:exon10:c.C3988T:p.L1330L 0.001 0.0023 0.0014 . 0.001 . 0.5001 0.5001 0.5 0.5 0.5 0.5001 0.5 0.5001 . . . . . rs73163793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4998 0.4999 0.4997 0.4999 0.4992 0.5001 0.4999 0.4992 0.4997 0.4127 0.4938 0.4869 0.2020 0.4981 0.4997 0.3329 0.4603 het 1287.31 100 7 100608779 . C T 1287.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.730;DP=100;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=4.5428;MQ=57.96;MQ0=0;MQRankSum=-0.428;QD=12.75;ReadPosRankSum=1.317;VQSLOD=4.0906;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,51:100:99:1317,0,1272 7 100608826 100608826 C G exonic MUC3A synonymous SNV MUC3A:NM_005960:exon10:c.C4035G:p.G1345G . . . . . . 0.4999 0.4998 0.4999 0.5 0.4998 0.5000 0.5 0.5001 . . . 0.21 . rs73163794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4994 0.4996 0.4990 0.4997 0.4984 0.4999 0.4995 0.4988 0.4995 0.4129 0.4938 0.4869 0.2033 0.4981 0.4997 0.3332 0.4603 het 1192.93 90 7 100608826 . C G 1192.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.207;DP=90;Dels=0.00;FS=5.981;HRun=3;HaplotypeScore=1.9806;MQ=57.97;MQ0=0;MQRankSum=-1.621;QD=13.25;ReadPosRankSum=-1.219;VQSLOD=3.1656;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,44:90:99:1223,0,1113 7 100608868 100608868 A G exonic MUC3A synonymous SNV MUC3A:NM_005960:exon10:c.A4077G:p.L1359L . . . . . . 0.4994 0.4995 0.4992 0.4993 0.4991 0.4995 0.5 0.4994 . . . 0.011 . rs67377634 COSM4161536;COSM4161537 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4946 0.4957 0.4916 0.4980 0.4872 0.4987 0.4957 0.4902 0.4953 0.4128 0.4938 0.4869 0.2 0.4981 0.4997 0.3330 0.4603 het 560.93 69 7 100608868 . A G 560.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.770;DP=69;Dels=0.00;FS=7.353;HRun=1;HaplotypeScore=0.8941;MQ=58.58;MQ0=0;MQRankSum=0.470;QD=8.13;ReadPosRankSum=1.320;VQSLOD=3.5219;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,22:69:99:591,0,1275 7 100610069 100610069 C T exonic MUC3A nonsynonymous SNV MUC3A:NM_005960:exon13:c.C4384T:p.H1462Y . . . . . . 0.4725 0.5140 0.6050 0.3919 0.4821 0.4604 0.4665 0.4415 . . . 0.5 . rs10258821 COSM5468584;COSM5468583 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4810 0.5163 0.5991 0.4404 0.3900 0.4836 0.4669 0.4791 0.4437 0.4837 0.5184 0.5543 0.4533 0.3730 0.4828 0.4722 0.4751 het 2175.63 186 7 100610069 . C T 2175.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.972;DP=186;Dels=0.00;FS=5.226;HRun=0;HaplotypeScore=6.4448;MQ=59.00;MQ0=0;MQRankSum=0.807;QD=11.70;ReadPosRankSum=-0.001;VQSLOD=4.1899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:101,84:186:99:2206,0,2576 7 100731638 100731638 C T exonic TRIM56 nonsynonymous SNV TRIM56:NM_030961:exon3:c.C1045T:p.L349F 0.0084 0.0008 0.017 . 0.025 0.0041 0.0275 0.0079 0.0163 0.0002 0.0186 0.0389 0.0221 0.0131 0.023 0.0065 0.031 0.011 0.016 rs77167460 . . . . . . . . . . . . . 0.064 0.365 T 0.917 0.488 P 0.367 0.416 B . . . 0.993 0.237 N 0.805 0.203 L 0.91 0.449 T -1.1 0.285 N 0.083 0.077 -1.097 0.044 T 0.017 0.070 T . . . 0.310 0.124 5.786 0.996 0.757 0.191 0.203 N c -0.792 -0.830 0.999 0.381 0.672 0.522 0 1.67 0.230 0.079 0.145 -1.062 0.020 0.000 0.063 0.002 0.062 6.169 0.195 . . . 0.0202 0.0042 0.0148 0.0189 6.522e-05 0.0150 0.0312 0.0207 0.0081 0.0200 0.0061 0.0167 0.0331 0 0.0175 0.0307 0.0204 het 157.49 16 7 100731638 . C T 157.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.943;DP=16;Dels=0.00;FS=5.021;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.943;QD=9.84;ReadPosRankSum=0.473;VQSLOD=4.4949;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:187,0,232 7 100731748 100731748 T G exonic TRIM56 synonymous SNV TRIM56:NM_030961:exon3:c.T1155G:p.G385G 0.069 0.18 0.06 0.001 0.057 0.013 0.0600 0.1640 0.0436 0.0002 0.0363 0.0683 0.0683 0.0179 0.096 0.14 0.075 0.033 0.074 rs61730718 COSM3774273;COSM3774272 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0576 0.1583 0.0463 0.0651 0.0003 0.0351 0.0703 0.0670 0.0189 0.0818 0.1519 0.0680 0.0695 0 0.0339 0.0628 0.0706 het 325.72 28 7 100731748 . T G 325.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.948;DP=28;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=1.290;QD=11.63;ReadPosRankSum=-0.967;VQSLOD=5.7382;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:356,0,377 7 100731829 100731829 T C exonic TRIM56 synonymous SNV TRIM56:NM_030961:exon3:c.T1236C:p.A412A 0.71 0.96 0.54 0.55 0.75 0.61 0.6916 0.9291 0.4727 0.5643 0.6719 0.7293 0.6869 0.6262 0.8 0.93 0.74 0.79 0.64 rs6948536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6778 0.9331 0.4770 0.7022 0.5593 0.6749 0.7350 0.6778 0.6239 0.761 0.9242 0.5467 0.66 0.5316 0.6662 0.7320 0.6821 het 479 31 7 100731829 . T C 479 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.501;DP=31;Dels=0.00;FS=3.256;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.741;QD=15.45;ReadPosRankSum=-1.301;VQSLOD=6.0714;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,18:31:99:509,0,313 7 100731896 100731896 T C exonic TRIM56 synonymous SNV TRIM56:NM_030961:exon3:c.T1303C:p.L435L 0.078 0.21 0.06 0.001 0.057 0.012 0.0624 0.1983 0.0436 0.0004 0.0349 0.0676 0.0673 0.0178 0.11 0.17 0.077 0.076 0.066 rs61730716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0602 0.1952 0.0475 0.0654 0.0003 0.0349 0.0704 0.0691 0.0190 0.0936 0.1929 0.0670 0.0695 0 0.0338 0.0636 0.0697 het 221.67 23 7 100731896 . T C 221.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.200;DP=23;Dels=0.00;FS=11.290;HRun=2;HaplotypeScore=0.5784;MQ=57.70;MQ0=0;MQRankSum=-0.646;QD=9.64;ReadPosRankSum=-1.262;VQSLOD=3.1357;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,11:23:99:252,0,368 7 100771717 100771717 G A exonic SERPINE1 nonsynonymous SNV SERPINE1:NM_000602:exon2:c.G43A:p.A15T 0.071 0.0023 0.081 0.097 0.098 0.1 0.0964 0.0194 0.0714 0.0901 0.0720 0.1125 0.0905 0.1109 0.085 0.023 0.12 0.098 0.074 rs6092 COSM3762287 1(large_intestine) other Plasminogen_activator_inhibitor_type_1_deficiency RCV000014541.26 MedGen:OMIM:Orphanet C2750067:613329:ORPHA465 . . . . . . 0.29 0.150 T 0.562 0.365 P 0.275 0.383 B 0.165 0.175 N 0.999 0.215 P 1.445 0.365 L -1.83 0.841 D -0.3 0.119 N 0.304 0.407 -0.906 0.473 T 0.008 0.027 T . . . 1.556 0.249 13.61 0.983 0.392 0.646 0.322 D c -0.238 -0.123 1.000 0.747 0.653 0.482 0 3.88 0.438 0.344 0.196 1.048 0.713 1.000 0.715 0.446 0.262 9.671 0.390 . . . 0.0950 0.0171 0.0687 0.1213 0.0880 0.0684 0.1130 0.0976 0.1118 0.0843 0.0198 0.0743 0.1159 0.0885 0.0650 0.1247 0.1018 het 1542.34 142 7 100771717 . G A 1542.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.557;DP=142;Dels=0.00;FS=1.372;HRun=0;HaplotypeScore=9.3421;MQ=59.13;MQ0=0;MQRankSum=1.382;QD=10.86;ReadPosRankSum=1.454;VQSLOD=3.3801;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,64:142:99:1572,0,2074 7 100859234 100859234 G A exonic PLOD3 synonymous SNV PLOD3:NM_001084:exon5:c.C570T:p.D190D 0.012 0.0015 0.022 . 0.037 0.0041 0.0281 0.0081 0.0140 0.0002 0.0261 0.0426 0.0222 0.0076 0.033 0.0086 0.046 0.011 0.025 rs35159414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0274 0.0078 0.0160 0.0202 0.0001 0.0257 0.0438 0.0290 0.0083 0.0292 0.0076 0.0336 0.0132 0 0.0278 0.0447 0.0412 het 1108.50 101 7 100859234 . G A 1108.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.189;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7156;MQ=59.63;MQ0=0;MQRankSum=0.725;QD=10.98;ReadPosRankSum=1.519;VQSLOD=5.4335;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,47:101:99:1138,0,1345 7 100875772 100875772 T G exonic CLDN15 synonymous SNV CLDN15:NM_014343:exon5:c.A606C:p.P202P,CLDN15:NM_001185080:exon6:c.A606C:p.P202P 0.23 0.18 0.21 0.17 0.24 0.33 0.2241 0.1941 0.1805 0.1764 0.1700 0.2281 0.2243 0.3014 0.21 0.19 0.23 0.18 0.19 rs1047319 COSM329253 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2204 0.1853 0.1925 0.3015 0.1755 0.1576 0.2233 0.2404 0.2983 0.2052 0.1862 0.2315 0.2914 0.1679 0.1588 0.2259 0.2372 hom 930.27 32 7 100875772 . T G 930.27 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6609;MQ=57.63;MQ0=0;QD=29.07;VQSLOD=7.3800;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:75.23:963,75,0 7 101200669 101200669 - G exonic COL26A1 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. 0.087 . rs398095266 COSM4602957 22(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1.0000 1 1 1 1 1 1 1 1 hom 2870.62 71 7 101200669 . A AG 2870.62 Mask AC=2;AF=1.00;AN=2;DP=71;FS=0.000;HRun=2;HaplotypeScore=173.2311;MQ=60.91;MQ0=0;QD=40.43;set=variant2 GT:AD:DP:GQ:PL 1/1:3,68:71:99:2913,205,0 7 101200727 101200727 G A exonic COL26A1 unknown UNKNOWN 0.32 0.34 0.32 0.24 0.37 0.33 0.3777 0.3600 0.3797 0.2353 0.3863 0.4040 0.3778 0.3516 0.38 0.35 0.39 0.33 . rs17393069 . . . . . . . . . . . . . . . . 0.226 0.288 B 0.041 0.226 B 0.431 0.127 N 1 0.090 P . . . . . . . . . . . -0.947 0.415 T 0.000 0.000 T . . . 2.004 0.302 16.23 0.865 0.160 0.030 0.078 N c -1.147 -1.234 0.113 0.167 0.184 0.032 0 -0.864 0.101 0.203 0.170 -1.094 0.019 0.002 0.151 0.020 0.134 4.492 0.111 . . . 0.3727 0.3559 0.3696 0.3094 0.2388 0.3853 0.4050 0.3635 0.3559 0.3749 0.3575 0.3484 0.3311 0.2311 0.3940 0.3954 0.4214 het 379.05 43 7 101200727 . G A 379.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.364;DP=43;Dels=0.00;FS=3.249;HRun=0;HaplotypeScore=0.0000;MQ=60.25;MQ0=0;MQRankSum=0.465;QD=8.82;ReadPosRankSum=-1.193;VQSLOD=5.2819;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,16:43:99:409,0,655 7 101916647 101916647 A G exonic CUX1 synonymous SNV CUX1:NM_001202544:exon14:c.A1218G:p.A406A,CUX1:NM_001202545:exon14:c.A1128G:p.A376A,CUX1:NM_001202546:exon14:c.A1149G:p.A383A,CUX1:NM_001913:exon15:c.A1266G:p.A422A,CUX1:NM_181500:exon15:c.A1260G:p.A420A 0.73 0.98 0.66 0.52 0.72 0.69 0.7296 0.9348 0.6928 0.5216 0.6985 0.7414 0.725 0.7036 0.81 0.93 0.75 0.77 0.7 rs813000 COSM3721378 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7227 0.9403 0.6888 0.7492 0.5234 0.7006 0.7420 0.7312 0.7031 0.7798 0.9352 0.7022 0.7781 0.5261 0.6935 0.7441 0.7316 hom 1586.98 57 7 101916647 . A G 1586.98 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.165;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=58.78;MQ0=0;MQRankSum=0.409;QD=27.84;ReadPosRankSum=-0.661;VQSLOD=7.1412;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,56:57:99:1620,106,0 7 101917521 101917521 G A exonic CUX1 nonsynonymous SNV CUX1:NM_001202544:exon15:c.G1342A:p.A448T,CUX1:NM_001202545:exon15:c.G1252A:p.A418T,CUX1:NM_001202546:exon15:c.G1273A:p.A425T,CUX1:NM_001913:exon16:c.G1390A:p.A464T,CUX1:NM_181500:exon16:c.G1384A:p.A462T 0.56 0.62 0.51 0.5 0.54 0.6 0.5685 0.5951 0.6014 0.4980 0.5295 0.5672 0.5575 0.5869 0.57 0.59 0.57 0.53 0.6 rs803064 COSM1755000 2(urinary_tract) . . . . . . . . . . . 0.902 0.101 T 0.127 0.288 B 0.021 0.241 B . . . 1 0.090 P 1.015 0.255 L 1.51 0.309 T -1.28 0.322 N 0.042 0.331 -0.953 0.405 T 0.000 0.000 T . . . 0.313 0.124 5.820 0.736 0.100 0.840 0.428 D c -1.058 -1.055 1.000 0.747 0.706 0.609 0 -0.106 0.129 2.588 0.456 -0.839 0.030 0.859 0.304 0.000 0.016 7.499 0.265 CASP\x2c C-terminal ENSG00000257923.5 Adipose_Subcutaneous 0.5643 0.5961 0.5862 0.5556 0.4996 0.5311 0.5658 0.5558 0.5837 0.5571 0.5870 0.5670 0.5762 0.4981 0.5180 0.5545 0.5541 hom 4603.70 154 7 101917521 . G A 4603.70 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6740;MQ=59.12;MQ0=0;QD=29.89;VQSLOD=7.9401;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,153:154:99:4603,364,0 7 102098010 102098010 G A exonic ALKBH4 nonsynonymous SNV ALKBH4:NM_017621:exon3:c.C740T:p.A247V 0.13 0.0068 0.12 0.15 0.17 0.24 0.1679 0.0314 0.1322 0.1365 0.1790 0.1799 0.1514 0.2368 0.12 0.036 0.16 0.098 0.14 rs41275227 COSM3762290 1(large_intestine) . . . . . . . . . . . 0.201 0.203 T 0.259 0.297 B 0.04 0.225 B 0.016 0.281 N 1 0.090 P 1.89 0.503 L -1.02 0.763 T -1.95 0.452 N 0.091 0.094 -1.063 0.110 T 0.001 0.004 T . . . 1.335 0.224 12.45 0.979 0.362 0.705 0.343 D c -0.496 -0.491 1.000 0.480 0.707 0.730 0 3.26 0.363 2.789 0.473 0.935 0.490 0.918 0.317 0.006 0.095 3.602 0.075 Alpha-ketoglutarate-dependent dioxygenase AlkB-like ENSG00000005075.11|ENSG00000256604.1|ENSG00000005075.11|ENSG00000256604.1|ENSG00000233297.4|ENSG00000005075.11|ENSG00000161036.6|ENSG00000128563.9|ENSG00000256604.1|ENSG00000256604.1|ENSG00000161036.6|ENSG00000005075.11|ENSG00000256604.1|ENSG00000161036.6|ENSG00000005075.11|ENSG00000128563.9|ENSG00000256604.1|ENSG00000005075.11|ENSG00000256604.1|ENSG00000005075.11|ENSG00000256604.1|ENSG00000005075.11|ENSG00000256604.1|ENSG00000005075.11|ENSG00000256604.1|ENSG00000005075.11|ENSG00000161036.6|ENSG00000256604.1|ENSG00000256604.1|ENSG00000005075.11|ENSG00000256604.1|ENSG00000161036.6|ENSG00000256604.1|ENSG00000256604.1|ENSG00000256604.1|ENSG00000005075.11|ENSG00000256604.1|ENSG00000161036.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid|Whole_Blood 0.1559 0.0277 0.1166 0.1670 0.1336 0.1588 0.1672 0.1491 0.2295 0.1252 0.0299 0.1289 0.19 0.1340 0.1511 0.1695 0.1663 hom 1145.55 39 7 102098010 . G A 1145.55 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=29.37;VQSLOD=8.8531;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1179,105,0 7 102108532 102108532 G A exonic LRWD1 synonymous SNV LRWD1:NM_001317721:exon6:c.G246A:p.R82R,LRWD1:NM_152892:exon6:c.G702A:p.R234R 0.12 0.0068 0.11 0.14 0.15 0.24 0.1559 0.0281 0.1335 0.1244 0.1519 0.1597 0.1631 0.2478 0.1 0.031 0.14 0.087 0.14 rs73189880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1446 0.0250 0.1129 0.1745 0.1221 0.1326 0.1480 0.1436 0.2348 0.1097 0.0273 0.1253 0.2119 0.1265 0.1249 0.1456 0.1691 het 156.17 33 7 102108532 . G A 156.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.500;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6266;MQ=58.86;MQ0=0;MQRankSum=-0.102;QD=4.73;ReadPosRankSum=-0.793;VQSLOD=3.9305;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,11:33:99:186,0,600 7 102113226 102113226 C T exonic LRWD1 nonsynonymous SNV LRWD1:NM_001317721:exon14:c.C1322T:p.P441L,LRWD1:NM_152892:exon14:c.C1778T:p.P593L 0.018 0.0008 0.02 . 0.042 0.035 0.0385 0.0079 0.0139 0.0006 0.0917 0.0459 0.0364 0.0451 0.034 0.011 0.046 0.022 0.025 rs148981077 COSM3762291 1(large_intestine) . . . . . . . . . . . 0.507 0.076 T 0.0 0.026 B 0.0 0.013 B 0.482 0.050 N 1 0.090 N 1.055 0.270 L 0.13 0.610 T -1.71 0.406 N 0.347 0.408 -1.019 0.241 T 0.005 0.015 T . . . 0.767 0.167 9.258 0.713 0.093 0.132 0.175 N c -0.976 -1.117 1.000 0.489 0.672 0.522 0 -3.22 0.048 -1.905 0.017 0.027 0.148 0.000 0.063 0.000 0.016 1.211 0.018 . ENSG00000168255.14|ENSG00000272949.1|ENSG00000168255.14|ENSG00000233297.4|ENSG00000170667.10|ENSG00000105808.13|ENSG00000272949.1|ENSG00000256604.1|ENSG00000168255.14|ENSG00000272949.1|ENSG00000168255.14|ENSG00000272949.1|ENSG00000272949.1|ENSG00000168255.14|ENSG00000272949.1|ENSG00000168255.14|ENSG00000170667.10|ENSG00000105808.13|ENSG00000272949.1|ENSG00000168255.14|ENSG00000272949.1|ENSG00000168255.14|ENSG00000272949.1|ENSG00000168255.14|ENSG00000272949.1|ENSG00000272949.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.0383 0.0067 0.0135 0.0179 0.0005 0.0846 0.0473 0.0353 0.0435 0.0420 0.0059 0.0179 0.0132 0 0.0891 0.0576 0.0553 het 484.52 42 7 102113226 . C T 484.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.972;DP=42;Dels=0.00;FS=7.090;HRun=0;HaplotypeScore=1.9427;MQ=59.00;MQ0=0;MQRankSum=-0.077;QD=11.54;ReadPosRankSum=0.922;VQSLOD=3.3764;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,17:42:99:515,0,656 7 102575000 102575002 GAA - exonic LRRC17 nonframeshift deletion LRRC17:NM_001031692:exon2:c.640_642del:p.E216del,LRRC17:NM_005824:exon2:c.640_642del:p.E216del 0.63 0.54 0.79 0.44 0.86 0.61 0.7520 0.5872 0.7863 0.4020 0.8238 0.8333 0.7616 0.6494 0.74 0.6 0.82 . . rs531650613 COSM5713144;COSM5713145 5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7564 0.5830 0.7909 0.8426 0.4001 0.8231 0.8312 0.8001 0.6489 0.7326 0.5873 0.7969 0.8311 0.3929 0.8205 0.8248 0.7755 hom 948.36 24 7 102574999 . TGAA T 948.36 Mask AC=2;AF=1.00;AN=2;DP=24;FS=0.000;HRun=0;HaplotypeScore=101.0980;MQ=58.40;MQ0=0;QD=39.51;set=variant2 GT:AD:DP:GQ:PL 1/1:2,22:24:66.21:990,66,0 7 102668001 102668001 A C exonic FBXL13 nonsynonymous SNV FBXL13:NM_001111038:exon5:c.T222G:p.I74M,FBXL13:NM_001287150:exon5:c.T222G:p.I74M,FBXL13:NM_145032:exon5:c.T222G:p.I74M 0.97 0.88 0.98 1. 1. 1. 0.9909 0.9063 0.9914 1 1 0.9995 0.9922 0.9999 0.97 0.91 1. 0.96 0.82 rs7805950 . . . . . . . . . . . . . 0.411 0.195 T 0.0 0.026 B 0.001 0.040 B 0.002 0.008 N 1 0.090 P -0.55 0.024 N 0.98 0.421 T 0.1 0.058 N 0.01 0.165 -0.973 0.367 T 0.000 0.000 T . . . -1.635 0.014 0.002 0.332 0.020 0.006 0.025 N c -1.892 -1.849 0.000 0.041 0.554 0.246 0 -1.63 0.079 -0.459 0.068 -1.359 0.013 0.000 0.063 0.000 0.016 1.291 0.019 . . . 0.9924 0.9007 0.9928 1 1 1 0.9995 0.9924 0.9998 0.9732 0.9073 0.9905 1 1 1 0.9994 0.9959 hom 3367.74 100 7 102668001 . A C 3367.74 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.49;MQ0=0;QD=33.68;VQSLOD=9.4628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3367,259,0 7 102743893 102743893 C T exonic NAPEPLD nonsynonymous SNV NAPEPLD:NM_001122838:exon5:c.G1165A:p.D389N,NAPEPLD:NM_198990:exon5:c.G1165A:p.D389N 0.86 0.51 0.95 1. 1. 1. 0.9595 0.5657 0.9745 1 1 0.9984 0.9746 0.9995 0.86 0.59 1. 0.77 0.95 rs3181009 . . . . . . . . . . . . . 0.233 0.181 T 0.001 0.067 B 0.002 0.063 B 0.660 0.104 N 0.999 0.213 P 0.49 0.133 N 1.41 0.334 T -0.81 0.223 N 0.083 0.077 -0.973 0.366 T 0.000 0.000 T . . . 1.584 0.252 13.76 0.988 0.461 0.392 0.259 N c -0.746 -0.636 0.000 0.058 0.651 0.465 0 2.8 0.317 2.229 0.424 0.018 0.143 0.968 0.339 0.892 0.376 9.104 0.357 Metallo-beta-lactamase ENSG00000161048.7|ENSG00000170632.9|ENSG00000170632.9|ENSG00000161048.7|ENSG00000161048.7|ENSG00000170632.9|ENSG00000170632.9|ENSG00000161048.7|ENSG00000170632.9|ENSG00000161048.7|ENSG00000170632.9|ENSG00000170632.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.9667 0.5473 0.9733 0.9968 1 1 0.9985 0.9758 0.9991 0.8761 0.5687 0.9702 0.9967 1 0.9997 0.9982 0.9786 hom 2816.26 95 7 102743893 . C T 2816.26 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=29.64;VQSLOD=8.7147;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2849,223,0 7 103007949 103007949 A C exonic PSMC2 synonymous SNV PSMC2:NM_002803:exon10:c.A934C:p.R312R 0.97 0.88 0.98 1. 1. 1. 0.9907 0.9048 0.9911 1 1 0.9996 0.9912 0.9999 0.97 0.92 1. 0.97 1. rs4520097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9924 0.8992 0.9929 1 1 1 0.9995 0.9925 0.9997 0.9727 0.9054 0.9904 1 1 1 0.9993 0.9959 hom 3304.31 113 7 103007949 . A C 3304.31 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9448;MQ=56.02;MQ0=0;QD=29.24;VQSLOD=3.3710;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3303,277,0 7 103124207 103124207 T C exonic RELN synonymous SNV RELN:NM_005045:exon62:c.A10074G:p.A3358A,RELN:NM_173054:exon62:c.A10074G:p.A3358A 0.23 0.38 0.15 0.27 0.095 0.19 0.1389 0.3493 0.1115 0.2726 0.0573 0.0928 0.1112 0.1763 0.17 0.34 0.091 0.29 0.09 rs1062831 COSM4004228 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Lissencephaly\x2c_Recessive RCV000081221.8|RCV000309455.1 MedGen|MedGen CN169374|CN239458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1316 0.3516 0.1114 0.0861 0.2757 0.0535 0.0935 0.1092 0.1762 0.1708 0.3454 0.1181 0.0762 0.2562 0.0575 0.0956 0.1090 het 2241.25 202 7 103124207 . T C 2241.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.953;DP=202;DS;Dels=0.00;FS=3.854;HRun=1;HaplotypeScore=4.0940;MQ=59.77;MQ0=0;MQRankSum=1.141;QD=11.10;ReadPosRankSum=0.230;VQSLOD=5.3541;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:110,91:202:99:2271,0,3275 7 103155705 103155705 A G exonic RELN synonymous SNV RELN:NM_005045:exon50:c.T8046C:p.H2682H,RELN:NM_173054:exon50:c.T8046C:p.H2682H 0.65 0.83 0.45 0.84 0.35 0.66 0.4722 0.7731 0.4588 0.8038 0.3662 0.3581 0.4534 0.6219 0.5 0.76 0.36 0.61 0.38 rs2229864 . . other|Benign not_specified|Lissencephaly\x2c_Recessive RCV000081242.8|RCV000404542.1 MedGen|MedGen CN169374|CN239458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4617 0.7748 0.4460 0.3834 0.8040 0.3554 0.3569 0.4352 0.6187 0.5053 0.7569 0.4415 0.3841 0.7974 0.3554 0.3733 0.4267 het 501.10 54 7 103155705 . A G 501.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.122;DP=54;Dels=0.00;FS=2.534;HRun=0;HaplotypeScore=0.8667;MQ=59.57;MQ0=0;MQRankSum=-0.442;QD=9.28;ReadPosRankSum=1.138;VQSLOD=6.2841;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,21:54:99:531,0,812 7 105177041 105177041 A T exonic RINT1 nonsynonymous SNV RINT1:NM_001346599:exon3:c.A21T:p.E7D,RINT1:NM_021930:exon3:c.A118T:p.S40C 0.19 0.27 0.17 0.022 0.19 0.27 0.1891 0.2478 0.2067 0.0244 0.1969 0.1824 0.2179 0.2490 0.2 0.25 0.18 0.14 0.25 rs11556986 COSM3762302 1(large_intestine) Benign not_specified RCV000455201.1 MedGen CN169374 . . . . . . 0.057 0.379 T 0.0 0.026 B 0.002 0.063 B 0.081 0.209 N 1 0.090 P 0.895 0.225 L 1.8 0.253 T -0.87 0.236 N 0.032 0.048 -1.020 0.238 T 0.000 0.000 T . . . 0.047 0.098 3.052 0.949 0.251 0.784 0.384 D c -0.618 -0.582 0.017 0.129 0.732 0.924 0 2.75 0.313 1.444 0.345 0.926 0.436 0.968 0.339 0.057 0.169 6.722 0.224 . ENSG00000091127.9|ENSG00000091127.9|ENSG00000272604.1 Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Thyroid 0.1882 0.2502 0.2017 0.1937 0.0231 0.1909 0.1833 0.1954 0.2518 0.2002 0.2515 0.2141 0.2152 0.0278 0.2002 0.1870 0.2137 het 3064.45 249 7 105177041 . A T 3064.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.034;DP=249;DS;Dels=0.00;FS=2.153;HRun=0;HaplotypeScore=7.4441;MQ=58.85;MQ0=0;MQRankSum=0.284;QD=12.31;ReadPosRankSum=-1.511;VQSLOD=4.2823;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,121:249:99:3094,0,3257 7 106508978 106508978 A G exonic PIK3CG synonymous SNV PIK3CG:NM_001282426:exon2:c.A972G:p.P324P,PIK3CG:NM_001282427:exon2:c.A972G:p.P324P,PIK3CG:NM_002649:exon2:c.A972G:p.P324P 0.94 0.86 0.96 0.99 0.96 0.96 0.9490 0.8601 0.9761 0.9983 0.9636 0.9518 0.9460 0.9432 0.92 0.86 0.95 0.96 0.92 rs849389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9522 0.8578 0.9730 0.9729 0.9980 0.9642 0.9504 0.9527 0.9417 0.9283 0.8501 0.9664 0.9636 0.9981 0.9607 0.9549 0.9389 hom 5363.61 177 7 106508978 . A G 5363.61 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6181;MQ=59.33;MQ0=0;QD=30.30;VQSLOD=7.7736;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5362,454,0 7 106508987 106508987 T C exonic PIK3CG synonymous SNV PIK3CG:NM_001282426:exon2:c.T981C:p.D327D,PIK3CG:NM_001282427:exon2:c.T981C:p.D327D,PIK3CG:NM_002649:exon2:c.T981C:p.D327D 0.94 0.86 0.96 1. 0.96 0.96 0.9502 0.8608 0.9764 0.9988 0.9640 0.9536 0.9460 0.9434 0.92 0.86 0.95 0.96 0.93 rs849390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9533 0.8585 0.9735 0.9748 0.9983 0.9644 0.9523 0.9533 0.9419 0.9295 0.8507 0.9665 0.9636 0.9981 0.9613 0.9568 0.9420 hom 5701 190 7 106508987 . T C 5701 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8599;MQ=59.52;MQ0=0;QD=30.01;VQSLOD=8.2576;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,189:190:99:5700,463,0 7 106513011 106513011 C T exonic PIK3CG synonymous SNV PIK3CG:NM_001282426:exon3:c.C2025T:p.S675S,PIK3CG:NM_001282427:exon3:c.C2025T:p.S675S,PIK3CG:NM_002649:exon3:c.C2025T:p.S675S 0.25 0.079 0.43 0.29 0.31 0.27 0.3104 0.1202 0.5248 0.3369 0.3266 0.3065 0.2665 0.2777 0.24 0.13 0.29 0.2 0.28 rs1129293 COSM5019079 2(haematopoietic_and_lymphoid_tissue);16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3182 0.1156 0.5007 0.2157 0.3388 0.3257 0.3072 0.2882 0.2809 0.2618 0.1232 0.4689 0.2119 0.3381 0.3164 0.3101 0.2770 het 1512.30 130 7 106513011 . C T 1512.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.415;DP=130;Dels=0.00;FS=4.363;HRun=0;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;MQRankSum=0.056;QD=11.63;ReadPosRankSum=0.349;VQSLOD=5.2816;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,67:130:99:1542,0,1593 7 107414419 107414419 A G exonic SLC26A3 synonymous SNV SLC26A3:NM_000111:exon17:c.T1953C:p.L651L 1. 1. 1. 1. 0.99 1. 0.9936 0.9981 0.9962 0.9998 0.9980 0.9899 0.9945 0.9987 0.99 1. 0.99 1. 0.98 rs41669 . . Benign Congenital_secretory_diarrhea\x2c_chloride_type RCV000391222.1 MedGen:OMIM:Orphanet:SNOMED_CT C0267662:214700:ORPHA53689:24412005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9939 0.9980 0.9963 0.9998 0.9998 0.9978 0.9891 0.9958 0.9987 0.9937 0.9974 0.9928 1 1 0.9977 0.9899 0.9939 hom 3463.55 114 7 107414419 . A G 3463.55 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=30.38;VQSLOD=8.8293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3463,301,0 7 107569517 107569517 A G exonic LAMB1 synonymous SNV LAMB1:NM_002291:exon31:c.T4879C:p.L1627L 0.43 0.55 0.4 0.46 0.39 0.33 0.4056 0.5321 0.4014 0.4481 0.4049 0.4052 0.4031 0.3085 0.45 0.54 0.41 0.46 0.48 rs1131398 . . Benign not_specified RCV000424294.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4024 0.5348 0.3987 0.3962 0.4475 0.3977 0.4066 0.3972 0.3067 0.4534 0.5440 0.3876 0.3609 0.4366 0.3866 0.4267 0.4078 het 3024.45 250 7 107569517 . A G 3024.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.067;DP=250;DS;Dels=0.00;FS=0.474;HRun=0;HaplotypeScore=5.8560;MQ=59.00;MQ0=0;MQRankSum=0.181;QD=12.10;ReadPosRankSum=1.487;VQSLOD=5.0780;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:3054,0,3662 7 107593989 107593989 T C exonic LAMB1 nonsynonymous SNV LAMB1:NM_002291:exon22:c.A3065G:p.Q1022R 0.7 0.75 0.66 0.85 0.59 0.61 0.6447 0.7055 0.6160 0.8356 0.6601 0.6244 0.6509 0.6021 0.65 0.7 0.63 0.64 0.67 rs20556 COSM5482822 1(large_intestine) Benign not_specified RCV000439104.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.063 B . . . 1.000 0.090 P 0.11 0.085 N 0.13 0.610 T -0.53 0.164 N 0.023 0.006 -0.952 0.407 T 0.000 0.000 T . . . -0.268 0.071 0.783 0.294 0.016 0.114 0.164 N c -1.564 -1.478 1.000 0.489 0.722 0.854 0 -1.99 0.070 -1.133 0.033 -1.571 0.009 0.000 0.063 0.591 0.287 12.867 0.572 Laminin EGF domain . . 0.6463 0.7063 0.6247 0.6669 0.8312 0.6666 0.6240 0.6265 0.5995 0.6697 0.7032 0.6130 0.6623 0.8292 0.6872 0.6342 0.6391 het 1612.20 118 7 107593989 . T C 1612.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.426;DP=118;Dels=0.00;FS=6.719;HRun=1;HaplotypeScore=1.8490;MQ=59.61;MQ0=0;MQRankSum=1.483;QD=13.66;ReadPosRankSum=-0.159;VQSLOD=5.0892;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,58:118:99:1642,0,1756 7 107603431 107603431 A C exonic LAMB1 synonymous SNV LAMB1:NM_002291:exon15:c.T1776G:p.P592P 0.29 0.38 0.3 0.25 0.25 0.23 0.2810 0.3594 0.2809 0.2460 0.3239 0.2836 0.2489 0.2242 0.31 0.36 0.28 0.32 0.31 rs2230156 COSM3762318 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000421491.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2791 0.3583 0.2790 0.2251 0.2446 0.3242 0.2849 0.2614 0.2259 0.3202 0.3568 0.2709 0.2267 0.2432 0.3295 0.3112 0.2975 het 2105.54 174 7 107603431 . A C 2105.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.766;DP=174;Dels=0.00;FS=3.549;HRun=1;HaplotypeScore=4.8122;MQ=59.60;MQ0=0;MQRankSum=0.235;QD=12.10;ReadPosRankSum=0.695;VQSLOD=5.3150;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,85:174:99:2136,0,2445 7 107738948 107738948 G A exonic LAMB4 synonymous SNV LAMB4:NM_001318046:exon11:c.C1260T:p.A420A,LAMB4:NM_001318047:exon11:c.C1260T:p.A420A,LAMB4:NM_001318048:exon11:c.C1260T:p.A420A,LAMB4:NM_007356:exon11:c.C1260T:p.A420A 0.31 0.25 0.37 0.26 0.38 0.31 0.3457 0.2701 0.3151 0.2160 0.4074 0.3854 0.3551 0.2967 0.35 0.27 0.39 0.35 0.4 rs451252 COSM4161708;COSM4161710;COSM4161709 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3463 0.2677 0.3195 0.3036 0.2171 0.3923 0.3928 0.3686 0.2948 0.3467 0.2737 0.3174 0.2715 0.2083 0.3736 0.4001 0.3612 het 2043.84 154 7 107738948 . G A 2043.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.319;DP=154;Dels=0.00;FS=0.607;HRun=0;HaplotypeScore=8.8561;MQ=58.97;MQ0=0;MQRankSum=-1.915;QD=13.27;ReadPosRankSum=-0.920;VQSLOD=3.4521;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,78:154:99:2074,0,2007 7 107743664 107743664 A G exonic LAMB4 synonymous SNV LAMB4:NM_001318046:exon10:c.T1005C:p.N335N,LAMB4:NM_001318047:exon10:c.T1005C:p.N335N,LAMB4:NM_001318048:exon10:c.T1005C:p.N335N,LAMB4:NM_007356:exon10:c.T1005C:p.N335N 0.3 0.23 0.37 0.26 0.38 0.32 0.3929 0.3005 0.4119 0.3021 0.5206 0.4390 0.375 0.3444 0.35 0.26 0.39 0.34 0.22 rs402113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3449 0.2597 0.3257 0.3044 0.2225 0.3903 0.3978 0.3640 0.2941 0.3443 0.2650 0.3162 0.2715 0.2138 0.3732 0.3998 0.3617 het 158.97 12 7 107743664 . A G 158.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.378;DP=12;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=1.7998;MQ=58.43;MQ0=0;MQRankSum=0.000;QD=13.25;ReadPosRankSum=0.869;VQSLOD=5.7288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:189,0,180 7 107824889 107824889 C G exonic NRCAM synonymous SNV NRCAM:NM_001037132:exon18:c.G2205C:p.A735A,NRCAM:NM_005010:exon19:c.G2157C:p.A719A,NRCAM:NM_001193583:exon20:c.G2148C:p.A716A,NRCAM:NM_001193584:exon20:c.G2148C:p.A716A,NRCAM:NM_001193582:exon21:c.G2205C:p.A735A 0.69 0.35 0.8 0.96 0.76 0.72 0.7488 0.4227 0.8325 0.9712 0.7608 0.7607 0.7478 0.7254 0.66 0.44 0.77 0.66 0.78 rs401433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7600 0.4216 0.8269 0.7109 0.9713 0.7522 0.7685 0.7450 0.7297 0.6846 0.4275 0.7871 0.6987 0.9753 0.7421 0.7790 0.7490 het 1229.15 113 7 107824889 . C G 1229.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.201;DP=113;Dels=0.00;FS=7.650;HRun=1;HaplotypeScore=0.9665;MQ=59.26;MQ0=0;MQRankSum=1.973;QD=10.88;ReadPosRankSum=-0.142;VQSLOD=4.2664;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,49:113:99:1259,0,1683 7 107834613 107834613 G C exonic NRCAM nonsynonymous SNV NRCAM:NM_001037132:exon14:c.C1633G:p.P545A,NRCAM:NM_001193583:exon16:c.C1576G:p.P526A,NRCAM:NM_001193584:exon16:c.C1576G:p.P526A,NRCAM:NM_005010:exon16:c.C1615G:p.P539A,NRCAM:NM_001193582:exon17:c.C1633G:p.P545A 0.7 0.44 0.8 0.88 0.8 0.68 0.7562 0.4965 0.8522 0.8869 0.7932 0.7741 0.7896 0.6951 0.69 0.51 0.78 0.56 0.75 rs6958498 COSM4161716;COSM4161714;COSM4161715 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.24 0.177 T 0.044 0.304 B 0.086 0.395 B 0.000 0.843 N 0.000 0.588 P 1.92 0.515 L 1.48 0.317 T -5.64 0.869 D 0.238 0.301 -1.097 0.044 T 0.000 0.000 T . . . 2.013 0.303 16.30 0.960 0.279 0.970 0.718 D c 0.026 0.197 1.000 0.747 0.707 0.730 0 4.82 0.615 7.703 0.834 0.032 0.150 1.000 0.715 0.946 0.421 16.795 0.854 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.7684 0.4933 0.8569 0.7506 0.8822 0.7866 0.7781 0.7749 0.7007 0.7070 0.4957 0.8278 0.7351 0.8832 0.7759 0.7823 0.7837 hom 6790.55 209 7 107834613 . G C 6790.55 Mask AC=2;AF=1.00;AN=2;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8585;MQ=59.05;MQ0=0;QD=32.49;VQSLOD=8.5202;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,209:209:99:6790,515,0 7 107834734 107834734 C T exonic NRCAM synonymous SNV NRCAM:NM_001037132:exon13:c.G1602A:p.A534A,NRCAM:NM_001193583:exon15:c.G1545A:p.A515A,NRCAM:NM_001193584:exon15:c.G1545A:p.A515A,NRCAM:NM_005010:exon15:c.G1584A:p.A528A,NRCAM:NM_001193582:exon16:c.G1602A:p.A534A 0.7 0.44 0.8 0.88 0.8 0.68 0.7559 0.4963 0.8520 0.8831 0.7934 0.7741 0.7892 0.6950 0.69 0.51 0.78 0.56 0.75 rs404287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7682 0.4932 0.8567 0.7504 0.8791 0.7867 0.7782 0.7746 0.7007 0.7070 0.4960 0.8278 0.7351 0.8795 0.7761 0.7827 0.7841 hom 5850.37 194 7 107834734 . C T 5850.37 Mask AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6726;MQ=59.29;MQ0=0;QD=30.16;VQSLOD=8.5762;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:5850,451,0 7 107838464 107838464 G T exonic NRCAM synonymous SNV NRCAM:NM_001037132:exon11:c.C1287A:p.V429V,NRCAM:NM_001193583:exon13:c.C1230A:p.V410V,NRCAM:NM_001193584:exon13:c.C1230A:p.V410V,NRCAM:NM_005010:exon13:c.C1269A:p.V423V,NRCAM:NM_001193582:exon14:c.C1287A:p.V429V 0.66 0.39 0.77 0.88 0.74 0.65 0.7068 0.4400 0.8277 0.8827 0.7219 0.7155 0.7257 0.6564 0.63 0.44 0.72 0.51 0.7 rs381318 COSM4161722;COSM4161721;COSM4161720 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7146 0.4300 0.8274 0.6756 0.8764 0.7102 0.7180 0.7090 0.6553 0.6488 0.4397 0.7900 0.6689 0.8776 0.6998 0.7208 0.7214 het 701.40 52 7 107838464 . G T 701.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.956;DP=52;Dels=0.00;FS=10.296;HRun=0;HaplotypeScore=2.9758;MQ=60.00;MQ0=0;MQRankSum=-0.193;QD=13.49;ReadPosRankSum=-0.541;VQSLOD=4.5460;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,28:52:99:731,0,661 7 107849908 107849908 G A exonic NRCAM synonymous SNV NRCAM:NM_001037132:exon9:c.C1032T:p.N344N,NRCAM:NM_001193583:exon11:c.C975T:p.N325N,NRCAM:NM_001193584:exon11:c.C975T:p.N325N,NRCAM:NM_005010:exon11:c.C1014T:p.N338N,NRCAM:NM_001193582:exon12:c.C1032T:p.N344N 0.58 0.54 0.61 0.82 0.51 0.47 0.5528 0.5384 0.7023 0.8280 0.5110 0.5114 0.5606 0.4959 0.52 0.55 0.51 0.55 0.43 rs1269621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5606 0.5428 0.6974 0.6090 0.8244 0.5121 0.5048 0.5475 0.5008 0.5397 0.5442 0.6778 0.5993 0.8321 0.5106 0.5043 0.5236 hom 3716.42 129 7 107849908 . G A 3716.42 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8501;MQ=59.29;MQ0=0;QD=28.81;VQSLOD=7.8459;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3716,289,0 7 107872816 107872816 G A exonic NRCAM synonymous SNV NRCAM:NM_001037132:exon4:c.C381T:p.N127N,NRCAM:NM_005010:exon6:c.C363T:p.N121N,NRCAM:NM_001193582:exon7:c.C381T:p.N127N,NRCAM:NM_001193583:exon7:c.C381T:p.N127N,NRCAM:NM_001193584:exon7:c.C381T:p.N127N 0.21 0.0061 0.27 0.55 0.12 0.2 0.1966 0.0288 0.3765 0.5818 0.1572 0.1393 0.1828 0.2225 0.1 0.033 0.14 0.14 0.11 rs2072546 COSM1447237;COSM1447238;COSM3762326 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2048 0.0260 0.3640 0.1090 0.5784 0.1552 0.1384 0.1785 0.2267 0.1370 0.0286 0.3170 0.0795 0.5899 0.1508 0.1380 0.1612 het 3010.75 229 7 107872816 . G A 3010.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.454;DP=229;Dels=0.00;FS=0.487;HRun=0;HaplotypeScore=1.9992;MQ=59.25;MQ0=0;MQRankSum=-0.247;QD=13.15;ReadPosRankSum=1.357;VQSLOD=6.4756;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,120:229:99:3041,0,2625 7 108212353 108212353 G A exonic DNAJB9 synonymous SNV DNAJB9:NM_012328:exon2:c.G183A:p.P61P 0.48 0.26 0.58 0.64 0.5 0.51 0.5149 0.3033 0.6389 0.6111 0.5408 0.5100 0.5044 0.5199 0.45 0.3 0.53 0.42 0.39 rs1043615 COSM4161724 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5235 0.2976 0.6301 0.4254 0.6120 0.5351 0.5160 0.5013 0.5242 0.4643 0.3006 0.5885 0.4133 0.5938 0.5341 0.5199 0.5205 het 1656.53 124 7 108212353 . G A 1656.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.686;DP=124;Dels=0.00;FS=1.567;HRun=0;HaplotypeScore=4.7154;MQ=58.61;MQ0=0;MQRankSum=-1.738;QD=13.36;ReadPosRankSum=1.384;VQSLOD=4.2953;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,63:124:99:1687,0,1574 7 112102355 112102355 T G exonic IFRD1 synonymous SNV IFRD1:NM_001197079:exon8:c.T678G:p.S226S,IFRD1:NM_001197080:exon8:c.T678G:p.S226S,IFRD1:NM_001550:exon8:c.T828G:p.S276S,IFRD1:NM_001007245:exon9:c.T828G:p.S276S 0.24 0.33 0.16 0.19 0.25 0.2 0.2378 0.3221 0.1723 0.1858 0.2945 0.2453 0.2982 0.2010 0.27 0.32 0.25 0.28 0.22 rs2253962 COSM5459958 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2359 0.3324 0.1708 0.2779 0.1919 0.2919 0.2420 0.2590 0.2034 0.2656 0.3282 0.1826 0.2848 0.2030 0.2871 0.2354 0.2592 hom 2632.68 87 7 112102355 . T G 2632.68 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.92;MQ0=0;QD=30.26;VQSLOD=9.0393;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2666,211,0 7 112112279 112112279 G A exonic IFRD1 synonymous SNV IFRD1:NM_001197079:exon10:c.G897A:p.R299R,IFRD1:NM_001197080:exon10:c.G897A:p.R299R,IFRD1:NM_001550:exon10:c.G1047A:p.R349R,IFRD1:NM_001007245:exon11:c.G1047A:p.R349R 0.25 0.36 0.16 0.19 0.25 0.2 0.2398 0.3486 0.1724 0.1854 0.2940 0.2451 0.2963 0.2003 0.28 0.34 0.25 0.29 0.23 rs2074796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2377 0.3593 0.1718 0.2778 0.1919 0.2918 0.2420 0.2607 0.2031 0.2739 0.3566 0.1835 0.2848 0.2042 0.2872 0.2359 0.2608 hom 3385.59 109 7 112112279 . G A 3385.59 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6862;MQ=58.27;MQ0=0;QD=31.06;VQSLOD=7.5521;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3385,265,0 7 112724417 112724417 A G exonic GPR85 synonymous SNV GPR85:NM_001146266:exon2:c.T360C:p.Y120Y,GPR85:NM_001146265:exon3:c.T360C:p.Y120Y,GPR85:NM_001146267:exon3:c.T360C:p.Y120Y,GPR85:NM_018970:exon3:c.T360C:p.Y120Y 0.91 0.94 0.93 0.97 0.88 0.83 0.8914 0.9284 0.9533 0.9782 0.8943 0.8800 0.8929 0.8237 0.9 0.92 0.89 0.89 0.86 rs2256044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8935 0.9267 0.9505 0.8673 0.9772 0.8912 0.8820 0.8915 0.8202 0.9050 0.9291 0.9511 0.8642 0.9733 0.8904 0.8869 0.8816 hom 4460.11 135 7 112724417 . A G 4460.11 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8846;MQ=58.55;MQ0=0;QD=33.04;VQSLOD=8.5647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4460,349,0 7 112724525 112724525 A G exonic GPR85 synonymous SNV GPR85:NM_001146266:exon2:c.T252C:p.G84G,GPR85:NM_001146265:exon3:c.T252C:p.G84G,GPR85:NM_001146267:exon3:c.T252C:p.G84G,GPR85:NM_018970:exon3:c.T252C:p.G84G 0.9 0.88 0.93 0.97 0.88 0.83 0.8877 0.8873 0.9522 0.9779 0.8940 0.8800 0.8910 0.8238 0.89 0.89 0.89 0.86 0.84 rs1608890 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8908 0.8865 0.9489 0.8674 0.9770 0.8911 0.8819 0.8909 0.8202 0.8941 0.8900 0.9511 0.8642 0.9733 0.8905 0.8871 0.8804 hom 4738.41 136 7 112724525 . A G 4738.41 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.49;MQ0=0;QD=34.84;VQSLOD=9.9689;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4738,370,0 7 113518434 113518434 C A exonic PPP1R3A nonsynonymous SNV PPP1R3A:NM_002711:exon4:c.G2713T:p.D905Y 0.31 0.18 0.2 0.64 0.12 0.41 0.2191 0.1986 0.2675 0.6952 0.2100 0.1107 0.2252 0.3903 0.14 0.19 0.1 0.25 0.09 rs1799999 COSM4416564;COSM4416565 1(haematopoietic_and_lymphoid_tissue);4(soft_tissue);1(large_intestine) other Insulin_resistance\x2c_susceptibility_to RCV000009243.2 MedGen C1852091 . . . . . . 0.0 0.912 D 0.976 0.564 D 0.72 0.530 P 0.025 0.262 N 0.836 0.287 P 1.83 0.482 L 2.05 0.207 T -2.39 0.526 N 0.446 0.501 -0.998 0.306 T 0.000 0.000 T . . . 4.738 0.635 24.7 0.993 0.590 0.956 0.652 D c 0.500 0.491 0.014 0.126 0.487 0.133 0 5.64 0.864 3.235 0.508 0.919 0.430 1.000 0.715 0.482 0.268 11.640 0.503 . . . 0.2202 0.1961 0.2594 0.2133 0.6850 0.2039 0.0982 0.1928 0.3875 0.1747 0.1933 0.2613 0.2119 0.6828 0.1984 0.0991 0.1789 het 851.86 73 7 113518434 . C A 851.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.931;DP=73;Dels=0.00;FS=8.380;HRun=0;HaplotypeScore=1.9683;MQ=58.24;MQ0=0;MQRankSum=-0.603;QD=11.67;ReadPosRankSum=-0.050;VQSLOD=4.7174;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,34:73:99:882,0,1108 7 113518502 113518502 A T exonic PPP1R3A nonsynonymous SNV PPP1R3A:NM_002711:exon4:c.T2645A:p.L882H 0.97 0.9 0.99 1. 0.99 1. 0.9900 0.9162 0.9895 1 1 0.9970 0.9901 0.9993 0.97 0.91 1. 0.91 1. rs2974938 . . . . . . . . . . . . . 0.289 0.150 T 0.001 0.067 B 0.001 0.040 B 0.874 0.088 N 1 0.090 P 0.22 0.096 N 2.35 0.162 T 1.09 0.013 N 0.051 0.032 -1.035 0.190 T 0.000 0.000 T . . . -1.708 0.013 0.002 0.265 0.013 0.001 0.006 N c -1.620 -1.601 0.000 0.056 0.487 0.133 0 -3.98 0.038 -2.148 0.014 -1.571 0.009 0.000 0.063 0.015 0.124 2.178 0.036 . . . 0.9916 0.9151 0.9907 0.9858 1 1 0.9980 0.9873 0.9992 0.9737 0.9123 0.9881 0.9901 1 1 0.9983 0.9908 hom 1988.17 65 7 113518502 . A T 1988.17 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.48;MQ0=0;QD=30.59;VQSLOD=9.2851;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2021,156,0 7 113519719 113519719 A T exonic PPP1R3A nonsynonymous SNV PPP1R3A:NM_002711:exon4:c.T1428A:p.N476K 1. 0.99 1. 1. 1. 1. 0.9990 0.9887 0.9996 1 1 1.0000 1 1 1. 0.99 1. 1. 1. rs2974944 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.190 0.169 N 1 0.090 P -1.04 0.011 N 2.6 0.260 T 0.93 0.016 N 0.004 0.000 -0.981 0.349 T 0.000 0.000 T . . . -1.789 0.011 0.002 0.121 0.002 0.003 0.015 N c -1.598 -1.494 0.000 0.029 0.487 0.133 0 1.78 0.238 0.068 0.143 -0.204 0.101 0.000 0.063 0.001 0.043 1.659 0.026 . . . 0.9992 0.9888 0.9995 1 1 1.0000 0.9999 0.9996 0.9999 0.9969 0.9891 0.9988 1 1 1 1 1 hom 1356.41 43 7 113519719 . A T 1356.41 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=31.54;VQSLOD=8.9611;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1389,108,0 7 113519796 113519796 C T exonic PPP1R3A nonsynonymous SNV PPP1R3A:NM_002711:exon4:c.G1351A:p.V451M 0.97 0.9 0.99 1. 1. 1. 0.9916 0.9182 0.9936 1 1 0.9987 0.9967 0.9996 0.97 0.92 1. 0.92 1. rs2974942 . . . . . . . . . . . . . 0.419 0.102 T 0.003 0.102 B 0.004 0.093 B 0.565 0.054 N 1 0.090 P 1.355 0.339 L 2.18 0.376 T -0.38 0.249 N 0.023 0.006 -0.991 0.323 T 0.000 0.000 T . . . 0.079 0.101 3.389 0.230 0.010 0.038 0.091 N c -1.309 -1.299 0.000 0.029 0.487 0.133 0 1.02 0.190 -0.403 0.072 -0.310 0.079 0.000 0.063 0.042 0.158 4.340 0.105 . . . 0.9931 0.9172 0.9935 0.9961 1 1 0.9990 0.9912 0.9995 0.9749 0.9145 0.9904 1 1 1 0.999 0.9928 hom 2900.14 95 7 113519796 . C T 2900.14 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=30.53;VQSLOD=9.3988;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2933,229,0 7 114619598 114619598 C A exonic MDFIC synonymous SNV MDFIC:NM_001166345:exon4:c.C255A:p.A85A,MDFIC:NM_199072:exon4:c.C582A:p.A194A 0.99 0.95 1. 1. 1. 1. 0.9955 0.9509 0.9987 1 1 0.9997 0.9989 0.9999 0.98 0.95 1. 0.96 0.82 rs2594449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9527 0.9983 0.9999 1 1 0.9998 0.9978 0.9999 0.9867 0.9540 0.9988 1 1 1 0.9995 0.9980 hom 4051.08 140 7 114619598 . C A 4051.08 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.40;MQ0=0;QD=28.94;VQSLOD=8.6439;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4051,310,0 7 115624478 115624478 C G exonic TFEC nonsynonymous SNV TFEC:NM_001018058:exon2:c.G18C:p.Q6H,TFEC:NM_012252:exon2:c.G18C:p.Q6H 0.013 0.0015 0.01 0.001 0.017 0.041 0.0210 0.0059 0.0073 0.0001 0.0119 0.0249 0.0264 0.0390 0.023 0.0082 0.031 0.022 0.033 rs35695387 . . . . . . . . . . . . . 0.007 0.632 D 0.993 0.637 D 0.79 0.559 P 0.000 0.439 D 1.000 0.090 N 2.075 0.572 M 2.21 0.192 T 0.19 0.354 N 0.034 0.092 -1.097 0.044 T 0.016 0.065 T . . . 3.649 0.496 23.2 0.994 0.637 0.548 0.294 D c -0.284 -0.362 0.681 0.225 0.706 0.609 0 2.05 0.257 0.217 0.173 0.935 0.490 0.574 0.273 0.097 0.188 5.281 0.149 . . . 0.0214 0.0054 0.0086 0.0060 0.0001 0.0132 0.0286 0.0203 0.0403 0.0194 0.0070 0.0107 0.0132 0 0.0149 0.0304 0.0183 het 2616.16 209 7 115624478 . C G 2616.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DP=209;DS;Dels=0.00;FS=0.543;HRun=0;HaplotypeScore=3.3945;MQ=58.82;MQ0=0;MQRankSum=1.620;QD=12.52;ReadPosRankSum=-0.777;VQSLOD=5.7530;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,101:209:99:2646,0,3015 7 116435768 116435768 C T exonic MET synonymous SNV MET:NM_001324402:exon19:c.C2568T:p.D856D,MET:NM_000245:exon20:c.C3858T:p.D1286D,MET:NM_001127500:exon20:c.C3912T:p.D1304D 0.35 0.034 0.46 0.47 0.44 0.49 0.4228 0.0922 0.5336 0.4562 0.3762 0.4429 0.4443 0.4603 0.32 0.1 0.42 0.24 0.39 rs41736 COSM150377 1(stomach);2(haematopoietic_and_lymphoid_tissue);18(soft_tissue);1(large_intestine) Benign|Benign|Benign not_specified|Hereditary_cancer-predisposing_syndrome|Renal_cell_carcinoma\x2c_papillary\x2c_1 RCV000079492.6|RCV000162950.1|RCV000351242.1 MedGen|MedGen:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0027672:699346009|C0007134:605074:ORPHA217071:41607009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4323 0.0887 0.5167 0.4863 0.4588 0.3959 0.4441 0.4560 0.4581 0.3407 0.1006 0.4761 0.4867 0.4449 0.3870 0.4444 0.3965 het 4372.15 249 7 116435768 . C T 4372.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.561;DP=249;DS;Dels=0.00;FS=2.812;HRun=0;HaplotypeScore=9.4803;MQ=59.62;MQ0=0;MQRankSum=1.743;QD=17.56;ReadPosRankSum=0.419;VQSLOD=3.5176;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,123:249:99:3670,0,3224 7 116436022 116436022 G A exonic MET synonymous SNV MET:NM_001324402:exon20:c.G2727A:p.A909A,MET:NM_000245:exon21:c.G4017A:p.A1339A,MET:NM_001127500:exon21:c.G4071A:p.A1357A 0.35 0.034 0.47 0.47 0.44 0.49 0.4245 0.0926 0.5342 0.4563 0.3767 0.4452 0.4444 0.4626 0.32 0.1 0.43 0.24 0.42 rs2023748 COSM150378 1(stomach);1(haematopoietic_and_lymphoid_tissue);19(soft_tissue);1(skin);1(large_intestine) Benign|Benign|Benign\x2cLikely benign not_specified|Hereditary_cancer-predisposing_syndrome|Renal_cell_carcinoma\x2c_papillary\x2c_1\x2cRenal_cell_carcinoma\x2c_papillary\x2c_1 RCV000079493.6|RCV000162951.1|RCV000389579.1\x2cRCV000204951.2 MedGen|MedGen:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0027672:699346009|C0007134:605074:ORPHA217071:41607009\x2cC0007134:605074:ORPHA217071:41607009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4340 0.0892 0.5174 0.4861 0.4589 0.3961 0.4468 0.4576 0.4608 0.3420 0.1010 0.4749 0.4901 0.4450 0.3866 0.4469 0.3982 het 2653.85 200 7 116436022 . G A 2653.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.223;DP=200;Dels=0.00;FS=2.526;HRun=1;HaplotypeScore=2.8603;MQ=59.81;MQ0=0;MQRankSum=-0.034;QD=13.27;ReadPosRankSum=0.622;VQSLOD=6.3945;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:104,96:200:99:2684,0,2772 7 116436097 116436097 G A exonic MET synonymous SNV MET:NM_001324402:exon20:c.G2802A:p.P934P,MET:NM_000245:exon21:c.G4092A:p.P1364P,MET:NM_001127500:exon21:c.G4146A:p.P1382P 0.35 0.036 0.47 0.47 0.44 0.49 0.4248 0.0944 0.5348 0.4569 0.3764 0.4453 0.4444 0.4626 0.32 0.1 0.43 0.24 0.41 rs41737 COSM150379 1(stomach);1(haematopoietic_and_lymphoid_tissue);19(soft_tissue);1(large_intestine) Benign|Benign|Benign not_specified|Hereditary_cancer-predisposing_syndrome|Renal_cell_carcinoma\x2c_papillary\x2c_1 RCV000079494.6|RCV000162952.1|RCV000310007.1 MedGen|MedGen:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0027672:699346009|C0007134:605074:ORPHA217071:41607009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4343 0.0911 0.5176 0.4862 0.4588 0.3962 0.4470 0.4575 0.4609 0.3428 0.1030 0.4761 0.4901 0.4455 0.3870 0.4470 0.3994 het 4522.41 250 7 116436097 . G A 4522.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.249;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.4692;MQ=59.19;MQ0=0;MQRankSum=0.387;QD=18.09;ReadPosRankSum=1.171;VQSLOD=2.2508;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,133:250:99:3835,0,2981 7 120428799 120428799 C A exonic TSPAN12 synonymous SNV TSPAN12:NM_012338:exon8:c.G765T:p.P255P 0.85 0.79 0.86 0.96 0.76 0.92 0.8032 0.7882 0.8383 0.9599 0.6630 0.7676 0.7896 0.9067 0.77 0.79 0.77 0.89 0.74 rs41623 . . Benign|Benign not_specified|Familial_exudative_vitreoretinopathy RCV000250026.1|RCV000263621.1 MedGen|MedGen:Orphanet CN169374|C0339539:ORPHA891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8008 0.7888 0.8390 0.8206 0.9566 0.6662 0.7639 0.7902 0.9048 0.7601 0.7806 0.8341 0.8510 0.9562 0.6704 0.7423 0.7556 hom 2832.79 81 7 120428799 . C A 2832.79 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.72;MQ0=0;QD=34.97;VQSLOD=9.4464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2866,229,0 7 120740103 120740103 G T exonic CPED1 synonymous SNV CPED1:NM_001105533:exon6:c.G873T:p.T291T,CPED1:NM_024913:exon7:c.G873T:p.T291T 0.77 0.6 0.86 0.96 0.8 0.72 0.8003 0.6424 0.8704 0.9555 0.7733 0.8006 0.8190 0.7784 0.75 0.65 0.8 0.77 0.71 rs798937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8068 0.6371 0.8684 0.8135 0.9567 0.7754 0.8012 0.8173 0.7792 0.7529 0.6434 0.8553 0.8212 0.9600 0.7672 0.7829 0.7689 het 1224.07 132 7 120740103 . G T 1224.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.715;DP=132;Dels=0.00;FS=6.840;HRun=0;HaplotypeScore=5.5209;MQ=58.44;MQ0=0;MQRankSum=1.089;QD=9.27;ReadPosRankSum=1.355;VQSLOD=4.2505;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,51:132:99:1254,0,2200 7 120764477 120764477 G C exonic CPED1 synonymous SNV CPED1:NM_001105533:exon7:c.G1011C:p.A337A,CPED1:NM_024913:exon8:c.G1011C:p.A337A . . . . . . 0.4877 0.2481 0.6569 0.8392 0.5160 0.4582 0.5033 0.4432 0.38 0.26 0.44 0.38 0.4 rs1524498 COSM5654104;COSM5654105 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4960 0.2429 0.6549 0.3940 0.8389 0.5185 0.4537 0.4948 0.4338 0.4270 0.2526 0.6151 0.3808 0.8428 0.5103 0.4510 0.4805 het 577.29 57 7 120764477 . G C 577.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.450;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4602;MQ=59.19;MQ0=0;MQRankSum=-1.118;QD=10.13;ReadPosRankSum=0.828;VQSLOD=5.2730;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,25:57:99:607,0,838 7 120776097 120776097 C G exonic CPED1 nonsynonymous SNV CPED1:NM_001105533:exon13:c.C1652G:p.A551G,CPED1:NM_024913:exon14:c.C1652G:p.A551G 0.49 0.2 0.62 0.86 0.48 0.44 0.5027 0.2680 0.6618 0.8421 0.5260 0.4734 0.5132 0.4523 0.38 0.26 0.44 0.38 0.19 rs41281692 COSM4006609;COSM4006608 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(pancreas) . . . . . . . . . . . 0.36 0.217 T 0.001 0.331 B 0.003 0.361 B 0.811 0.068 N 1 0.090 P 1.345 0.336 L 2.18 0.332 T -0.48 0.373 N 0.021 0.118 -1.014 0.256 T 0.000 0.000 T . . . -0.115 0.083 1.623 0.674 0.081 0.082 0.140 N c -0.984 -1.020 1.000 0.407 0.554 0.246 0 -0.512 0.113 -0.579 0.059 0.892 0.403 0.000 0.063 0.008 0.104 2.661 0.047 . ENSG00000106034.13|ENSG00000196937.6 Cells_Transformed_fibroblasts|Lung 0.4603 0.2209 0.6003 0.3656 0.8156 0.5156 0.4353 0.4553 0.4116 0.4277 0.2524 0.6133 0.3808 0.8428 0.5222 0.4543 0.4910 het 175.38 19 7 120776097 . C G 175.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.204;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=57.33;MQ0=0;MQRankSum=-1.347;QD=9.23;ReadPosRankSum=-0.857;VQSLOD=4.3775;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:205,0,276 7 121513561 121513561 T G exonic PTPRZ1 nonsynonymous SNV PTPRZ1:NM_001206838:exon1:c.T8G:p.I3S,PTPRZ1:NM_001206839:exon1:c.T8G:p.I3S,PTPRZ1:NM_002851:exon1:c.T8G:p.I3S 0.16 0.014 0.23 0.3 0.12 0.21 0.1647 0.0405 0.2410 0.2936 0.1044 0.1485 0.1615 0.2121 0.12 0.044 0.15 0.11 0.15 rs740965 COSM4161738;COSM4161739 1(thyroid) . . . . . . . . . . . 0.0 0.912 D 0.008 0.170 B 0.005 0.149 B 0.056 0.021 N 1 0.090 P 0.55 0.145 N 0.65 0.529 T -0.17 0.096 N 0.219 0.269 -0.991 0.322 T 0.000 0.000 T . . . 2.014 0.303 16.30 0.873 0.166 0.059 0.117 N c -1.285 -1.346 1.000 0.747 0.437 0.062 0 -2.66 0.057 0.454 0.214 -0.000 0.135 0.001 0.137 0.021 0.135 4.605 0.117 . . . 0.1688 0.0375 0.2378 0.2219 0.2975 0.0962 0.1446 0.1721 0.2091 0.1131 0.0398 0.1739 0.2185 0.2913 0.0894 0.1359 0.1235 het 675.53 62 7 121513561 . T G 675.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.675;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;MQRankSum=0.311;QD=10.90;ReadPosRankSum=-0.672;VQSLOD=6.6906;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,24:62:99:706,0,976 7 121653398 121653398 G A exonic PTPRZ1 nonsynonymous SNV PTPRZ1:NM_002851:exon12:c.G4298A:p.G1433D 0.68 0.93 0.57 0.65 0.47 0.67 0.5698 0.8833 0.5044 0.6324 0.4942 0.5216 0.5221 0.6124 0.64 0.87 0.52 0.76 0.55 rs1147504 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.081 0.209 N 1.000 0.548 P -2.48 0.001 N 1.17 0.379 T 0.45 0.032 N 0.031 0.012 -0.987 0.334 T 0.000 0.000 T . . . 1.031 0.193 10.83 0.210 0.008 0.061 0.119 N c -0.979 -0.678 0.118 0.168 0.672 0.522 0 3.22 0.359 1.459 0.346 0.244 0.267 0.997 0.399 0.704 0.310 5.906 0.181 . . . 0.5553 0.8867 0.4998 0.4590 0.6350 0.4854 0.5223 0.5355 0.6105 0.6328 0.8799 0.4809 0.4768 0.6365 0.4840 0.5399 0.5546 hom 2870.51 92 7 121653398 . G A 2870.51 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9707;MQ=55.75;MQ0=0;QD=31.20;VQSLOD=4.1145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2904,238,0 7 122078414 122078414 T G exonic CADPS2 synonymous SNV CADPS2:NM_001009571:exon16:c.A2448C:p.T816T,CADPS2:NM_001167940:exon17:c.A2457C:p.T819T,CADPS2:NM_017954:exon17:c.A2457C:p.T819T 0.28 0.13 0.38 0.39 0.3 0.3 0.3150 0.1578 0.3798 0.3894 0.2611 0.3164 0.3348 0.3396 0.26 0.14 0.31 0.35 . rs2074589 COSM3762346;COSM3762345 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3180 0.1562 0.3758 0.3404 0.3928 0.2658 0.3141 0.3143 0.3390 0.2614 0.1535 0.3866 0.3344 0.3812 0.2672 0.3003 0.2807 het 1588.73 111 7 122078414 . T G 1588.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.904;DP=111;Dels=0.00;FS=4.693;HRun=1;HaplotypeScore=5.7034;MQ=58.81;MQ0=0;MQRankSum=1.041;QD=14.31;ReadPosRankSum=0.677;VQSLOD=4.9461;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,64:111:99:1619,0,1169 7 122303321 122303321 C T exonic CADPS2 synonymous SNV CADPS2:NM_001009571:exon3:c.G756A:p.L252L,CADPS2:NM_001167940:exon3:c.G756A:p.L252L,CADPS2:NM_017954:exon3:c.G756A:p.L252L 0.72 0.65 0.66 0.76 0.73 0.79 0.7270 0.6609 0.6123 0.7424 0.6218 0.7530 0.7331 0.7739 0.73 0.68 0.76 0.66 . rs2251761 COSM4004269;COSM4004270 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7204 0.6561 0.6177 0.7611 0.7382 0.6300 0.7578 0.7180 0.7720 0.6895 0.6617 0.6671 0.7715 0.7217 0.6332 0.7172 0.6554 hom 1206.23 38 7 122303321 . C T 1206.23 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.84;MQ0=0;QD=31.74;VQSLOD=8.8409;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:96.30:1239,96,0 7 122635024 122635024 C T exonic TAS2R16 nonsynonymous SNV TAS2R16:NM_016945:exon1:c.G665A:p.R222H 0.73 0.95 0.76 0.52 0.69 0.66 0.6881 0.9079 0.6582 0.5400 0.6522 0.6812 0.7037 0.6890 0.75 0.9 0.68 0.72 0.61 rs860170 COSM3762347 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.466 N 1 0.090 P -2.81 0.000 N 6.06 0.006 T 7.21 0.000 N 0.109 0.117 -1.055 0.130 T 0.000 0.000 T . . . 0.312 0.124 5.808 0.049 0.000 0.004 0.019 N c -1.451 -1.251 0.000 0.029 0.487 0.133 0 2.21 0.269 1.560 0.357 0.091 0.195 0.866 0.305 0.004 0.083 3.949 0.088 . . . 0.6840 0.9153 0.6799 0.6849 0.5326 0.6488 0.6817 0.6776 0.6926 0.7172 0.9014 0.6811 0.6788 0.5210 0.6621 0.6491 0.6748 het 1868 154 7 122635024 . C T 1868 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.066;DP=154;Dels=0.00;FS=16.610;HRun=0;HaplotypeScore=4.6574;MQ=58.81;MQ0=0;MQRankSum=-0.247;QD=12.13;ReadPosRankSum=-0.395;VQSLOD=3.1384;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,72:154:99:1898,0,2196 7 123599845 123599845 A T exonic SPAM1 nonsynonymous SNV SPAM1:NM_001174044:exon5:c.A1352T:p.D451V,SPAM1:NM_001174046:exon5:c.A1352T:p.D451V,SPAM1:NM_003117:exon5:c.A1352T:p.D451V,SPAM1:NM_153189:exon5:c.A1352T:p.D451V,SPAM1:NM_001174045:exon6:c.A1352T:p.D451V 0.0044 0.0008 0.0072 . 0.015 0.001 0.0112 0.0033 0.0052 0 0.0027 0.0174 0.0111 0.0045 0.013 0.0023 0.018 0.011 0.016 rs75168651 . . . . . . . . . . . . . 0.012 0.546 D 0.179 0.273 B 0.033 0.210 B 0.010 0.012 N 1 0.090 N 1.795 0.474 L 2.45 0.153 T -2.84 0.598 D 0.084 0.078 -0.993 0.319 T 0.018 0.073 T . . . 0.043 0.098 3.006 0.896 0.183 0.270 0.229 N c -0.997 -1.110 0.000 0.058 0.487 0.133 0 -4.83 0.029 0.102 0.150 0.237 0.263 0.000 0.063 0.000 0.016 7.095 0.243 . . . 0.0116 0.0029 0.0073 0.0232 0 0.0039 0.0186 0.0097 0.0043 0.0086 0.0032 0.0060 0.0166 0 0.0026 0.0143 0.0051 het 1139.84 69 7 123599845 . A T 1139.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.946;DP=69;Dels=0.00;FS=6.002;HRun=0;HaplotypeScore=0.8941;MQ=59.06;MQ0=0;MQRankSum=1.514;QD=16.52;ReadPosRankSum=0.000;VQSLOD=4.7513;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,43:69:99:1170,0,612 7 124387092 124387092 C G exonic GPR37 synonymous SNV GPR37:NM_005302:exon2:c.G1329C:p.L443L 0.4 0.18 0.44 0.54 0.46 0.45 0.4541 0.2346 0.4871 0.5126 0.4197 0.4807 0.4416 0.4457 0.4 0.24 0.48 0.37 0.39 rs3735270 COSM1131723 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4587 0.2323 0.4827 0.4454 0.5175 0.4187 0.4859 0.4697 0.4446 0.4016 0.2377 0.4522 0.4503 0.5284 0.4037 0.4773 0.4348 het 2288.77 172 7 124387092 . C G 2288.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.012;DP=172;Dels=0.00;FS=0.567;HRun=0;HaplotypeScore=1.7719;MQ=59.46;MQ0=0;MQRankSum=-1.325;QD=13.31;ReadPosRankSum=-1.539;VQSLOD=5.5145;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,86:172:99:2319,0,2511 7 124387374 124387374 A G exonic GPR37 synonymous SNV GPR37:NM_005302:exon2:c.T1047C:p.T349T 0.72 0.34 0.82 1. 0.76 0.83 0.7707 0.4184 0.8824 0.9992 0.7738 0.7677 0.7638 0.8055 0.65 0.43 0.76 0.59 0.7 rs724356 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7789 0.4138 0.8734 0.7808 0.9992 0.7708 0.7626 0.7826 0.7972 0.6746 0.4293 0.8237 0.8079 0.9994 0.7642 0.7447 0.7663 het 815.51 69 7 124387374 . A G 815.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.006;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4090;MQ=59.12;MQ0=0;MQRankSum=-0.488;QD=11.82;ReadPosRankSum=-0.735;VQSLOD=6.2118;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:846,0,1100 7 126542667 126542667 A T exonic GRM8 nonsynonymous SNV GRM8:NM_000845:exon5:c.T1085A:p.F362Y,GRM8:NM_001127323:exon6:c.T1085A:p.F362Y 0.12 0.0098 0.14 0.21 0.15 0.15 0.1309 0.0289 0.1317 0.2379 0.0995 0.1329 0.1336 0.1428 0.092 0.031 0.12 0.087 0.17 rs78124913 COSM4004283;COSM150386;COSM4004282 1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.338 0.142 T 0.077 0.413 B 0.17 0.450 B 0.000 0.843 D 0.000 0.588 P 1.805 0.477 L -2.33 0.879 D -0.87 0.236 N 0.274 0.427 -1.097 0.045 T 0.001 0.003 T . . . 4.392 0.588 24.1 0.979 0.362 0.987 0.861 D c 0.131 0.273 0.973 0.294 0.554 0.283 0 4.88 0.630 9.321 0.955 1.080 0.851 1.000 0.715 1.000 0.888 13.682 0.618 Periplasmic binding protein-like I|Receptor\x2c ligand binding region . . 0.1298 0.0266 0.1318 0.1241 0.2324 0.0991 0.1323 0.1270 0.1378 0.1000 0.0318 0.1241 0.1060 0.2481 0.0908 0.1220 0.1376 het 741.66 62 7 126542667 . A T 741.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.458;DP=62;Dels=0.00;FS=2.182;HRun=0;HaplotypeScore=0.0000;MQ=54.71;MQ0=0;MQRankSum=-0.021;QD=11.96;ReadPosRankSum=-0.345;VQSLOD=2.4048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:772,0,650 7 127251188 127251188 T G exonic PAX4 nonsynonymous SNV PAX4:NM_006193:exon9:c.A962C:p.H321P 0.67 0.73 0.76 0.36 0.78 0.74 0.7578 0.7322 0.7423 0.4202 0.7684 0.8044 0.7467 0.7554 0.77 0.71 0.8 0.64 0.72 rs712701 . . Benign|Benign not_specified|Maturity-onset_diabetes_of_the_young RCV000117896.2|RCV000302621.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0004904:CN004347 . . . . . . 0.408 0.102 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.206 P . . . -3.33 0.939 D 1.39 0.012 N 0.038 0.034 -0.966 0.380 T 0.000 0.000 T . . . -1.141 0.027 0.008 0.112 0.002 0.000 0.003 N c -1.368 -1.452 0.359 0.198 0.554 0.283 0 -3.35 0.046 -1.259 0.029 -0.934 0.025 0.000 0.063 0.000 0.016 2.721 0.048 . ENSG00000128594.3 Lung 0.7356 0.7164 0.7197 0.8774 0.3674 0.7310 0.7864 0.7623 0.7413 0.7266 0.7089 0.7220 0.8676 0.3638 0.7345 0.7708 0.7347 hom 963.04 28 7 127251188 . T G 963.04 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.39;VQSLOD=14.2882;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:78.24:996,78,0 7 127721507 127721507 T C exonic SND1 synonymous SNV SND1:NM_014390:exon18:c.T2064C:p.T688T 0.67 0.96 0.71 0.33 0.66 0.62 0.6422 0.9209 0.6681 0.3308 0.5873 0.6537 0.6162 0.5875 0.75 0.91 0.67 0.7 0.66 rs322825 COSM4161764 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6393 0.9242 0.6767 0.7748 0.3278 0.5791 0.6511 0.6571 0.5851 0.6986 0.9166 0.6647 0.7682 0.3242 0.5933 0.6415 0.6276 het 1144.70 92 7 127721507 . T C 1144.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.663;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5449;MQ=59.75;MQ0=0;MQRankSum=0.586;QD=12.44;ReadPosRankSum=2.070;VQSLOD=5.9352;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,45:92:99:1175,0,1308 7 128141865 128141865 T C exonic METTL2B synonymous SNV METTL2B:NM_018396:exon9:c.T1032C:p.N344N 0.78 0.78 0.69 0.72 0.82 0.89 0.7811 0.7559 0.6045 0.7469 0.7950 0.7934 0.8084 0.8821 0.79 0.75 0.8 0.78 0.79 rs1053124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7770 0.7563 0.6122 0.8163 0.7503 0.7936 0.7984 0.7795 0.8794 0.7875 0.7713 0.6663 0.8433 0.7847 0.7841 0.8037 0.7872 hom 6532.91 221 7 128141865 . T C 6532.91 Mask AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1796;MQ=45.89;MQ0=3;QD=29.56;VQSLOD=3.5151;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:6531,524,0 7 128358891 128358891 C A exonic FAM71F1 synonymous SNV FAM71F1:NM_001282788:exon3:c.C441A:p.L147L,FAM71F1:NM_032599:exon3:c.C441A:p.L147L 0.2 0.22 0.16 0.1 0.24 0.27 0.2172 0.2119 0.1064 0.1190 0.2481 0.2302 0.2086 0.2861 0.22 0.2 0.23 0.22 0.11 rs745229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2119 0.2154 0.1154 0.1892 0.1142 0.2413 0.2322 0.2029 0.2850 0.2283 0.2215 0.1423 0.1887 0.1141 0.2307 0.2484 0.2469 het 2698.27 245 7 128358891 . C A 2698.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.569;DP=245;DS;Dels=0.00;FS=3.047;HRun=0;HaplotypeScore=6.5556;MQ=59.20;MQ0=0;MQRankSum=2.839;QD=11.01;ReadPosRankSum=0.030;VQSLOD=3.8656;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:138,106:245:99:2728,0,3829 7 128363287 128363287 G A exonic FAM71F1 nonsynonymous SNV FAM71F1:NM_001282788:exon4:c.G724A:p.E242K,FAM71F1:NM_032599:exon4:c.G724A:p.E242K,FAM71F1:NM_001282789:exon5:c.G427A:p.E143K 0.16 0.06 0.16 0.11 0.23 0.27 0.2039 0.0780 0.1027 0.1182 0.2454 0.2283 0.2026 0.2842 0.18 0.08 0.23 0.12 0.14 rs6971091 COSM4985360 8(soft_tissue) . . . . . . . . . . . 0.007 0.682 D 0.996 0.715 D 0.541 0.615 P 0.001 0.428 D 0.026 0.390 P 1.65 0.424 L 1.39 0.338 T -3.14 0.640 D 0.207 0.270 -1.144 0.012 T 0.000 0.000 T . . . 5.614 0.765 26.6 0.998 0.902 0.867 0.458 D c 0.518 0.542 1.000 0.747 0.706 0.609 0 5.2 0.716 4.072 0.570 1.044 0.665 0.997 0.399 0.973 0.468 14.431 0.667 Domain of unknown function DUF3699 ENSG00000271529.1|ENSG00000230715.2|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000230715.2|ENSG00000273270.1|ENSG00000230715.2|ENSG00000271529.1|ENSG00000271529.1|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000230715.2|ENSG00000271529.1|ENSG00000230715.2|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000229413.1|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000230715.2|ENSG00000271529.1|ENSG00000230715.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000273270.1|ENSG00000242588.2|ENSG00000243679.1|ENSG00000273270.1|ENSG00000243302.3|ENSG00000230715.2|ENSG00000273270.1|ENSG00000271529.1|ENSG00000230715.2|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000271529.1|ENSG00000230715.2|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000271529.1|ENSG00000230715.2|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000243302.3|ENSG00000230715.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000230715.2|ENSG00000271529.1|ENSG00000230715.2|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000243679.1|ENSG00000243302.3|ENSG00000230715.2|ENSG00000271529.1|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3|ENSG00000230715.2|ENSG00000271529.1|ENSG00000230715.2|ENSG00000242588.2|ENSG00000243679.1|ENSG00000243302.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid 0.2024 0.0787 0.1155 0.1871 0.1134 0.2386 0.2306 0.1955 0.2860 0.1862 0.0799 0.1301 0.1812 0.1132 0.2285 0.2457 0.2418 het 2925.09 217 7 128363287 . G A 2925.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.941;DP=217;DS;Dels=0.00;FS=4.842;HRun=1;HaplotypeScore=6.6864;MQ=59.41;MQ0=0;MQRankSum=-1.131;QD=13.48;ReadPosRankSum=-1.037;VQSLOD=4.2605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,103:217:99:2955,0,2986 7 128487866 128487866 T C exonic FLNC synonymous SNV FLNC:NM_001127487:exon25:c.T4404C:p.D1468D,FLNC:NM_001458:exon25:c.T4404C:p.D1468D 0.99 0.97 1. 1. 1. 1. 0.9973 0.9695 0.9987 1 1 0.9999 0.9989 0.9999 0.99 0.97 1. 1. 0.97 rs2249128 . . Benign not_specified RCV000221141.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9688 0.9989 1 1 1 0.9999 0.9984 0.9999 0.9915 0.9704 0.9952 1 1 1 0.9999 1 hom 2700.83 88 7 128487866 . T C 2700.83 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;QD=30.69;VQSLOD=8.3913;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2734,211,0 7 128494922 128494922 G A exonic FLNC nonsynonymous SNV FLNC:NM_001127487:exon41:c.G6992A:p.R2331H,FLNC:NM_001458:exon42:c.G7091A:p.R2364H 0.0006 0.0008 . . 0.002 . 0.0019 0.0012 0.0007 0 0.0021 0.0030 0.0011 6.056e-05 0.002 0.0012 0.0024 . 0.0082 rs201672146 COSM1085386 1(soft_tissue);1(endometrium) Benign not_specified RCV000178492.2 MedGen CN169374 . . . . . . 0.482 0.086 T 1.0 0.899 D 0.998 0.875 D 0.000 0.843 D 0.999 0.469 D 0.965 0.241 L -1.93 0.849 D -2.65 0.589 D 0.329 0.390 0.219 0.862 D 0.574 0.846 D 0.066 0.699 D 5.260 0.711 25.7 0.948 0.250 0.930 0.569 D c 0.227 0.340 1.000 0.747 0.707 0.730 0 5.29 0.743 3.318 0.514 1.045 0.669 0.997 0.399 0.994 0.587 12.74 0.564 Immunoglobulin E-set|Immunoglobulin-like fold . . 0.0017 0.0011 0.0006 0 0 0.0018 0.0030 0.0022 6.497e-05 0.0014 0.0007 0 0 0 0.0011 0.0021 0.0031 het 1751.72 134 7 128494922 . G A 1751.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.989;DP=134;Dels=0.00;FS=2.189;HRun=0;HaplotypeScore=0.8941;MQ=59.50;MQ0=0;MQRankSum=-1.268;QD=13.07;ReadPosRankSum=1.971;VQSLOD=4.0434;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,67:134:99:1782,0,1687 7 128607384 128607384 G A exonic TNPO3 synonymous SNV TNPO3:NM_001191028:exon20:c.C2469T:p.A823A,TNPO3:NM_012470:exon21:c.C2661T:p.A887A 0.48 0.51 0.37 0.44 0.53 0.49 0.4779 0.5052 0.2903 0.4839 0.4754 0.5077 0.4868 0.4690 0.51 0.5 0.52 0.48 0.52 rs8043 COSM4004292;COSM4004293 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000244863.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4703 0.5056 0.3003 0.5899 0.4910 0.4746 0.5033 0.4732 0.4650 0.4858 0.4984 0.3349 0.5464 0.4745 0.4874 0.4872 0.4735 hom 2276.14 83 7 128607384 . G A 2276.14 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=27.42;VQSLOD=8.1435;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2309,172,0 7 128641226 128641226 G C exonic TNPO3 synonymous SNV TNPO3:NM_001191028:exon6:c.C759G:p.L253L,TNPO3:NM_012470:exon6:c.C759G:p.L253L 0.34 0.12 0.32 0.4 0.48 0.45 0.4097 0.1678 0.2633 0.4229 0.4357 0.4639 0.4526 0.4264 0.37 0.18 0.47 0.3 0.43 rs2305324 COSM4161783;COSM4161784 1(breast);1(thyroid) Benign not_specified RCV000247837.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4083 0.1669 0.2697 0.5285 0.4318 0.4328 0.4595 0.4205 0.4224 0.3581 0.1623 0.2895 0.5033 0.4086 0.4384 0.4446 0.4196 hom 8815.49 250 7 128641226 . G C 8815.49 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7980;MQ=59.12;MQ0=0;MQRankSum=0.730;QD=35.26;ReadPosRankSum=0.480;VQSLOD=6.8837;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,248:250:99:8815,689,0 7 128801555 128801555 C T exonic TSPAN33 synonymous SNV TSPAN33:NM_178562:exon2:c.C138T:p.Y46Y 0.0004 . . . 0.002 . 0.0012 0.0006 0.0004 0 0.0002 0.0020 0 0 0.0016 0.0011 0.0019 . . rs149626402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0006 0.0004 0.0001 0 0.0003 0.0023 0.0015 3.249e-05 0.0014 0.0006 0.0012 0 0 0.0009 0.0023 0 het 2202.11 187 7 128801555 . C T 2202.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.466;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7219;MQ=58.34;MQ0=0;MQRankSum=0.635;QD=11.78;ReadPosRankSum=0.489;VQSLOD=3.3565;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,88:187:99:2232,0,2388 7 128846328 128846328 G C exonic SMO synonymous SNV SMO:NM_005631:exon6:c.G1164C:p.G388G 0.76 0.67 0.79 0.77 0.82 0.77 0.7975 0.6930 0.7136 0.7695 0.8048 0.8386 0.8150 0.7667 0.79 0.69 0.84 0.76 0.66 rs2228617 COSM4004294 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455693.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7982 0.6867 0.7150 0.8671 0.7695 0.8123 0.8413 0.8290 0.7659 0.7929 0.6895 0.7721 0.8709 0.7674 0.8099 0.8520 0.7837 hom 8689.11 250 7 128846328 . G C 8689.11 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8088;MQ=59.55;MQ0=0;QD=34.76;VQSLOD=8.0063;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8688,683,0 7 129813738 129813738 T C exonic TMEM209 synonymous SNV TMEM209:NM_001301163:exon11:c.A1260G:p.L420L,TMEM209:NM_032842:exon12:c.A1386G:p.L462L 0.3 0.13 0.27 0.55 0.26 0.34 0.2783 0.1447 0.2818 0.5889 0.3987 0.2330 0.2884 0.3272 0.21 0.15 0.23 0.23 . rs3823482 COSM4004295 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2832 0.1426 0.2776 0.2252 0.5906 0.3936 0.2302 0.2563 0.3225 0.2532 0.1511 0.2578 0.1821 0.6007 0.3939 0.2410 0.2941 het 2795.71 233 7 129813738 . T C 2795.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.550;DP=233;DS;Dels=0.00;FS=2.298;HRun=0;HaplotypeScore=2.8647;MQ=58.93;MQ0=0;MQRankSum=1.389;QD=12.00;ReadPosRankSum=0.458;VQSLOD=6.3454;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:122,110:233:99:2826,0,2764 7 129916515 129916515 T C exonic CPA2 synonymous SNV CPA2:NM_001869:exon7:c.T633C:p.D211D 0.69 0.66 0.67 0.79 0.65 0.7 0.6353 0.6685 0.6342 0.7804 0.6290 0.5976 0.6597 0.6929 0.63 0.67 0.61 0.6 0.61 rs17590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6393 0.6739 0.6410 0.6217 0.7833 0.6326 0.6016 0.6265 0.6891 0.6210 0.6633 0.6292 0.64 0.8022 0.6146 0.5779 0.6130 het 2996.17 217 7 129916515 . T C 2996.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.719;DP=217;DS;Dels=0.00;FS=3.199;HRun=0;HaplotypeScore=3.6415;MQ=59.21;MQ0=0;MQRankSum=1.143;QD=13.81;ReadPosRankSum=0.933;VQSLOD=5.9088;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,126:217:99:3026,0,2252 7 129938598 129938598 G T exonic CPA4 nonsynonymous SNV CPA4:NM_001163446:exon2:c.G81T:p.L27F,CPA4:NM_016352:exon2:c.G81T:p.L27F 0.36 0.33 0.35 0.36 0.39 0.37 0.3688 0.3347 0.2684 0.3510 0.3599 0.3927 0.3381 0.3787 0.38 0.34 0.4 0.37 0.46 rs34587586 COSM5460459 1(large_intestine) . . . . . . . . . . . 0.718 0.179 T 0.008 0.135 B 0.219 0.360 B 0.001 0.390 N 0.993 0.588 P -0.195 0.042 N 2.47 0.148 T -1.08 0.291 N 0.048 0.323 -0.899 0.481 T 0.000 0.000 T . . . 1.332 0.224 12.43 0.926 0.214 0.031 0.079 N c -0.618 -0.412 1.000 0.500 0.693 0.558 0 4.47 0.536 0.625 0.240 0.152 0.238 1.000 0.715 1.000 0.888 5.396 0.155 Proteinase inhibitor\x2c carboxypeptidase propeptide|Proteinase inhibitor\x2c propeptide ENSG00000128510.6|ENSG00000128510.6|ENSG00000106484.10|ENSG00000158525.11|ENSG00000158525.11 Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Whole_Blood 0.3682 0.3371 0.2780 0.3959 0.3490 0.3680 0.3973 0.3730 0.3781 0.3736 0.3402 0.2835 0.42 0.3465 0.3525 0.4061 0.3571 het 1321.99 94 7 129938598 . G T 1321.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.690;DP=94;Dels=0.00;FS=1.673;HRun=4;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;MQRankSum=1.289;QD=14.06;ReadPosRankSum=1.083;VQSLOD=5.5206;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,53:94:99:1352,0,988 7 129950740 129950740 G T exonic CPA4 nonsynonymous SNV CPA4:NM_001163446:exon8:c.G808T:p.G270C,CPA4:NM_016352:exon9:c.G907T:p.G303C 0.32 0.21 0.32 0.37 0.36 0.36 0.3478 0.2269 0.2516 0.3631 0.3459 0.3753 0.3403 0.3739 0.33 0.23 0.38 0.28 0.36 rs2171492 COSM3762374 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.082 0.332 T 0.012 0.151 B 0.095 0.287 B 0.023 0.266 N 1.000 0.194 P -0.06 0.049 N 2.81 0.110 T 0.92 0.016 N 0.105 0.134 -0.898 0.482 T 0.000 0.000 T . . . 2.085 0.311 16.76 0.972 0.324 0.511 0.286 D c -0.819 -0.655 0.004 0.106 0.638 0.428 0 0.479 0.159 -0.018 0.124 -0.818 0.031 0.829 0.299 0.818 0.342 11.794 0.512 Peptidase M14\x2c carboxypeptidase A ENSG00000128510.6|ENSG00000106484.10|ENSG00000158525.11|ENSG00000158525.11 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Whole_Blood 0.3488 0.2227 0.2606 0.3460 0.3630 0.3593 0.3814 0.3451 0.3758 0.3310 0.2283 0.2608 0.3841 0.3658 0.3444 0.3862 0.3408 het 4190.87 250 7 129950740 . G T 4190.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.233;DP=250;DS;Dels=0.00;FS=0.994;HRun=0;HaplotypeScore=13.1832;MQ=59.48;MQ0=0;MQRankSum=1.148;QD=16.76;ReadPosRankSum=0.176;VQSLOD=2.4883;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,139:250:99:3573,0,3024 7 129962360 129962360 A G exonic CPA4 synonymous SNV CPA4:NM_001163446:exon10:c.A1011G:p.A337A,CPA4:NM_016352:exon11:c.A1110G:p.A370A 0.97 0.9 0.99 1. 1. 1. 0.9921 0.9134 0.9975 1 1 0.9998 0.9912 0.9999 0.97 0.92 1. 0.96 0.99 rs1569133 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9940 0.9139 0.9970 1 0.9999 1 0.9998 0.9963 0.9998 0.9744 0.9105 0.9964 1 0.9994 0.9997 0.9999 0.9949 hom 7111.66 237 7 129962360 . A G 7111.66 Mask AC=2;AF=1.00;AN=2;DP=237;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8824;MQ=59.65;MQ0=0;QD=30.01;VQSLOD=8.5702;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:7110,593,0 7 129986338 129986338 C T exonic CPA5 synonymous SNV CPA5:NM_001127442:exon2:c.C12T:p.T4T,CPA5:NM_001318223:exon2:c.C12T:p.T4T,CPA5:NM_080385:exon3:c.C12T:p.T4T,CPA5:NM_001127441:exon4:c.C12T:p.T4T 0.59 0.65 0.65 0.53 0.58 0.55 0.5897 0.6418 0.6408 0.5410 0.5521 0.5907 0.5774 0.5577 0.6 0.64 0.58 0.61 0.55 rs6973851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5865 0.6474 0.6386 0.6156 0.5402 0.5480 0.5841 0.5810 0.5532 0.5949 0.6406 0.6444 0.6192 0.5532 0.5521 0.5782 0.6141 het 1219.52 94 7 129986338 . C T 1219.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.575;DP=94;Dels=0.00;FS=1.759;HRun=0;HaplotypeScore=1.6517;MQ=59.75;MQ0=0;MQRankSum=0.636;QD=12.97;ReadPosRankSum=0.431;VQSLOD=6.8108;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,49:94:99:1250,0,1285 7 129989878 129989878 T C exonic CPA5 synonymous SNV CPA5:NM_001127442:exon4:c.T261C:p.S87S,CPA5:NM_001318223:exon4:c.T261C:p.S87S,CPA5:NM_080385:exon5:c.T261C:p.S87S,CPA5:NM_001127441:exon6:c.T261C:p.S87S 0.52 0.45 0.63 0.57 0.52 0.49 0.5282 0.4633 0.7024 0.5724 0.5325 0.5107 0.5308 0.4927 0.5 0.47 0.51 0.49 0.45 rs7808823 COSM3762375 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5356 0.4615 0.6884 0.5424 0.5677 0.5161 0.5100 0.5406 0.4924 0.5081 0.4631 0.6790 0.4833 0.5634 0.5413 0.5090 0.5459 het 3085.42 241 7 129989878 . T C 3085.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.180;DP=241;DS;Dels=0.00;FS=2.868;HRun=1;HaplotypeScore=7.0703;MQ=59.55;MQ0=0;MQRankSum=-1.384;QD=12.80;ReadPosRankSum=0.439;VQSLOD=4.1996;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,119:241:99:3115,0,3374 7 130002317 130002317 T C exonic CPA5 synonymous SNV CPA5:NM_001127442:exon7:c.T573C:p.I191I,CPA5:NM_001318223:exon7:c.T573C:p.I191I,CPA5:NM_080385:exon8:c.T573C:p.I191I,CPA5:NM_001127441:exon9:c.T573C:p.I191I 0.75 0.37 0.88 0.98 0.83 0.88 0.8177 0.4387 0.9107 0.9746 0.8455 0.8217 0.8370 0.8807 0.71 0.46 0.83 0.69 0.78 rs1544705 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8324 0.4340 0.9047 0.8506 0.9735 0.8447 0.8255 0.8266 0.8832 0.7302 0.4419 0.8866 0.8278 0.9692 0.8472 0.8278 0.8262 hom 3731.55 128 7 130002317 . T C 3731.55 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9013;MQ=59.00;MQ0=0;QD=29.15;VQSLOD=4.5102;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,127:128:99:3731,298,0 7 130021488 130021488 G C exonic CPA1 synonymous SNV CPA1:NM_001868:exon3:c.G165C:p.G55G 0.58 0.66 0.55 0.62 0.55 0.49 0.5368 0.6527 0.5998 0.5860 0.5390 0.5132 0.5418 0.4882 0.55 0.64 0.5 0.56 0.39 rs1126899 . . Benign not_specified RCV000242274.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5355 0.6532 0.5922 0.5546 0.5869 0.5283 0.5070 0.5292 0.4890 0.5526 0.6393 0.5827 0.5033 0.5762 0.5530 0.4996 0.5389 het 638.13 69 7 130021488 . G C 638.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.598;DP=69;Dels=0.00;FS=5.459;HRun=2;HaplotypeScore=1.6988;MQ=59.46;MQ0=0;MQRankSum=-1.514;QD=9.25;ReadPosRankSum=-0.268;VQSLOD=4.0360;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,29:69:99:668,0,1181 7 130418525 130418525 G A exonic KLF14 synonymous SNV KLF14:NM_138693:exon1:c.C336T:p.S112S 0.39 0.11 0.47 0.54 0.5 0.43 0.5412 0.2529 0.5518 0.6324 0.6126 0.5734 0.5307 0.4645 0.36 0.17 0.46 0.24 0.29 rs76603546 COSM3750001 1(thyroid);18(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4483 0.1572 0.4283 0.4893 0.5576 0.4897 0.4736 0.4414 0.4082 0.3903 0.1650 0.4625 0.4702 0.5565 0.4913 0.4707 0.4507 hom 381.27 16 7 130418525 . G A 381.27 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.83;VQSLOD=13.3289;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:30.10:414,30,0 7 131195712 131195712 G A exonic PODXL nonsynonymous SNV PODXL:NM_001018111:exon2:c.C581T:p.S194L,PODXL:NM_005397:exon2:c.C581T:p.S194L 0.36 0.036 0.39 0.65 0.43 0.42 0.4282 0.0901 0.4406 0.6243 0.4979 0.4646 0.4185 0.3554 0.35 0.11 0.47 0.3 0.4 rs12670788 . . . . . . . . . . . . . 0.335 0.129 T 0.394 0.329 B 0.042 0.227 B 0.000 0.002 N 1 0.090 P 0.345 0.112 N 2.51 0.143 T -1.56 0.495 N 0.022 0.018 -0.935 0.433 T 0.000 0.000 T . . . -1.159 0.026 0.008 0.506 0.043 0.054 0.111 N c -2.193 -2.212 0.994 0.334 0.646 0.442 0 -2.05 0.069 -0.231 0.090 -1.994 0.005 0.000 0.063 0.000 0.016 1.192 0.017 . . . 0.4368 0.0852 0.4296 0.4036 0.6272 0.5045 0.4686 0.4336 0.3592 0.3839 0.0942 0.4017 0.4106 0.6238 0.4891 0.4938 0.4867 het 1740.02 146 7 131195712 . G A 1740.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.425;DP=146;Dels=0.00;FS=3.366;HRun=2;HaplotypeScore=4.8941;MQ=59.25;MQ0=0;MQRankSum=0.605;QD=11.92;ReadPosRankSum=0.093;VQSLOD=5.5047;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,67:146:99:1770,0,2122 7 131195959 131195959 C T exonic PODXL nonsynonymous SNV PODXL:NM_001018111:exon2:c.G334A:p.G112S,PODXL:NM_005397:exon2:c.G334A:p.G112S 0.36 0.036 0.39 0.65 0.44 0.41 0.4272 0.0899 0.4390 0.6225 0.4974 0.4636 0.4163 0.3545 0.35 0.11 0.47 0.29 0.4 rs3735035 . . . . . . . . . . . . . 0.382 0.111 T 0.029 0.185 B 0.002 0.063 B 0.000 0.002 N 1 0.090 P 0.345 0.112 N 3.06 0.090 T 1.19 0.014 N 0.086 0.081 -0.952 0.407 T 0.000 0.000 T . . . -1.934 0.009 0.001 0.477 0.039 0.017 0.053 N c -2.108 -2.185 1.000 0.747 0.646 0.442 0 -5.63 0.023 -1.612 0.021 -1.683 0.008 0.000 0.063 0.000 0.016 1.232 0.018 . . . 0.4358 0.0847 0.4284 0.4023 0.6244 0.5046 0.4678 0.4320 0.3584 0.3834 0.0936 0.3998 0.4133 0.6222 0.4888 0.4934 0.4836 het 4166.60 250 7 131195959 . C T 4166.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.811;DP=250;DS;Dels=0.00;FS=13.455;HRun=0;HaplotypeScore=5.0763;MQ=59.27;MQ0=0;MQRankSum=0.346;QD=16.67;ReadPosRankSum=0.564;VQSLOD=3.7697;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3512,0,3074 7 131815310 131815310 A G exonic PLXNA4 synonymous SNV PLXNA4:NM_020911:exon32:c.T5613C:p.D1871D 0.9 0.86 0.92 0.93 0.87 0.94 0.8878 0.8588 0.9426 0.9488 0.9138 0.8633 0.9111 0.9220 0.86 0.87 0.86 0.81 0.88 rs2671103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8900 0.8573 0.9366 0.8662 0.9470 0.9148 0.8603 0.8886 0.9214 0.8780 0.8619 0.9306 0.8907 0.9537 0.9207 0.8647 0.8980 hom 6284.37 216 7 131815310 . A G 6284.37 Mask AC=2;AF=1.00;AN=2;DP=216;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=29.09;VQSLOD=8.6681;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6283,496,0 7 131864591 131864591 T C exonic PLXNA4 synonymous SNV PLXNA4:NM_020911:exon20:c.A3729G:p.A1243A 0.78 0.98 0.73 0.63 0.61 0.88 0.6770 0.9342 0.6745 0.6320 0.5245 0.6143 0.6538 0.8550 0.72 0.92 0.61 0.69 0.58 rs3734989 COSM1568624;COSM1568623 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6651 0.9358 0.6713 0.6880 0.6258 0.5275 0.6049 0.6562 0.8510 0.6903 0.9247 0.6679 0.7219 0.6459 0.5223 0.6028 0.6211 het 446.30 36 7 131864591 . T C 446.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.705;DP=36;Dels=0.00;FS=1.480;HRun=1;HaplotypeScore=3.8278;MQ=58.71;MQ0=0;MQRankSum=0.554;QD=12.40;ReadPosRankSum=2.642;VQSLOD=5.0592;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,18:36:99:476,0,505 7 132070054 132070054 T C exonic PLXNA4 nonsynonymous SNV PLXNA4:NM_001105543:exon4:c.A1372G:p.M458V 0.26 0.033 0.31 0.13 0.59 0.3 0.4533 0.1016 0.2393 0.1331 0.5549 0.5948 0.4933 0.3551 0.43 0.11 0.58 0.23 0.56 rs741664 COSM4908656 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.918 0.023 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 4.22 0.027 T 1.74 0.006 N 0.035 0.015 -0.933 0.438 T 0.000 0.000 T . . . 0.047 0.098 3.048 0.255 0.012 0.021 0.062 N c -1.304 -1.399 0.974 0.294 0.476 0.093 0 -4.6 0.031 -0.483 0.066 -0.044 0.124 0.000 0.063 0.001 0.043 0.490 0.005 Sema domain|WD40/YVTN repeat-like-containing domain . . 0.4422 0.0972 0.2477 0.5157 0.1308 0.5425 0.5976 0.4859 0.3381 0.4047 0.1131 0.3333 0.4669 0.1287 0.5352 0.5706 0.4908 het 438.28 36 7 132070054 . T C 438.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.915;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.236;QD=12.17;ReadPosRankSum=-0.951;VQSLOD=11.3886;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,17:36:99:468,0,483 7 132192295 132192295 G A exonic PLXNA4 synonymous SNV PLXNA4:NM_001105543:exon2:c.C1158T:p.L386L,PLXNA4:NM_020911:exon2:c.C1158T:p.L386L,PLXNA4:NM_181775:exon3:c.C1158T:p.L386L 0.39 0.52 0.36 0.27 0.39 0.38 0.3880 0.4980 0.3134 0.2497 0.3963 0.3925 0.4053 0.4248 0.42 0.48 0.39 0.37 0.37 rs156961 COSM5468665;COSM5468667;COSM5468668;COSM5468666 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3796 0.4871 0.3197 0.4986 0.2520 0.3859 0.3835 0.3850 0.4064 0.4110 0.4837 0.3270 0.4799 0.2404 0.3966 0.3962 0.3745 het 1259.10 107 7 132192295 . G A 1259.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.184;DP=107;Dels=0.00;FS=0.828;HRun=1;HaplotypeScore=0.5784;MQ=59.02;MQ0=0;MQRankSum=2.231;QD=11.77;ReadPosRankSum=-0.844;VQSLOD=5.8526;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,47:107:99:1289,0,1656 7 133749164 133749164 G A exonic EXOC4 synonymous SNV EXOC4:NM_021807:exon18:c.G2808A:p.Q936Q 0.67 0.71 0.76 0.76 0.6 0.53 0.6274 0.6917 0.7553 0.7592 0.6455 0.5997 0.6283 0.5322 0.63 0.69 0.6 0.74 0.46 rs6953296 COSM3762383;COSM3762384 1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6294 0.6963 0.7434 0.6423 0.7528 0.6539 0.5888 0.6205 0.5333 0.6382 0.6954 0.7333 0.6689 0.7618 0.6384 0.5863 0.6278 hom 4006.63 113 7 133749164 . G A 4006.63 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1872;MQ=59.59;MQ0=0;QD=35.46;VQSLOD=8.5194;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:4006,325,0 7 133868507 133868507 C T exonic LRGUK synonymous SNV LRGUK:NM_144648:exon11:c.C1236T:p.A412A 0.99 0.97 1. 1. 1. 1. 0.9973 0.9740 0.9983 1 1 0.9995 0.9978 0.9997 0.99 0.98 1. 0.96 1. rs1222419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9979 0.9747 0.9985 0.9989 1 1 0.9997 0.9973 0.9997 0.9928 0.9751 0.9976 1 1 1 0.9998 1 hom 7725.96 238 7 133868507 . C T 7725.96 Mask AC=2;AF=1.00;AN=2;DP=238;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=32.46;VQSLOD=9.7167;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,238:238:99:7725,611,0 7 133932357 133932357 T C exonic LRGUK nonsynonymous SNV LRGUK:NM_144648:exon17:c.T2033C:p.M678T 0.0038 0.0008 0.0072 . 0.012 0.001 0.0086 0.0016 0.0055 0 0.0142 0.0123 0.0088 0.0023 0.0079 0.0025 0.011 . 0.0082 rs34904752 . . . . . . . . . . . . . 0.704 0.041 T 0.039 0.197 B 0.023 0.188 B 0.206 0.165 N 0.990 0.242 N 1.7 0.440 L 1.3 0.356 T -0.67 0.193 N 0.194 0.238 -1.006 0.283 T 0.053 0.224 T . . . 0.980 0.188 10.55 0.863 0.159 0.602 0.309 D c -0.377 -0.261 0.655 0.222 0.554 0.246 0 3.38 0.376 1.237 0.321 1.061 0.807 0.999 0.424 0.537 0.277 6.247 0.199 . . . 0.0079 0.0012 0.0052 0.0012 5.8e-05 0.0137 0.0117 0.0100 0.0021 0.0070 0.0017 0.0048 0.0033 0 0.0129 0.0097 0.0051 het 1190.28 115 7 133932357 . T C 1190.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.753;DP=115;Dels=0.00;FS=2.368;HRun=0;HaplotypeScore=2.5310;MQ=59.31;MQ0=0;MQRankSum=0.501;QD=10.35;ReadPosRankSum=0.014;VQSLOD=5.8899;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,55:115:99:1220,0,1356 7 133979795 133979795 T C exonic SLC35B4 synonymous SNV SLC35B4:NM_032826:exon10:c.A786G:p.T262T 0.49 0.6 0.58 0.27 0.47 0.55 0.4760 0.5969 0.5896 0.2717 0.4023 0.4588 0.4481 0.5279 0.51 0.6 0.46 0.41 0.39 rs1421484 COSM3762385 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4770 0.5982 0.5939 0.3634 0.2689 0.3957 0.4686 0.4849 0.5298 0.4930 0.6050 0.5644 0.3046 0.2701 0.4114 0.4721 0.4735 het 2178.90 231 7 133979795 . T C 2178.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.235;DP=231;DS;Dels=0.00;FS=9.070;HRun=1;HaplotypeScore=4.3850;MQ=59.17;MQ0=0;MQRankSum=0.763;QD=9.43;ReadPosRankSum=-2.038;VQSLOD=3.8318;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:137,93:231:99:2209,0,3885 7 134225827 134225827 A G exonic AKR1B10 nonsynonymous SNV AKR1B10:NM_020299:exon10:c.A937G:p.N313D 0.97 1. 0.93 1. 0.91 0.98 0.9381 0.9856 0.9504 0.9992 0.9308 0.9127 0.9191 0.9741 0.94 0.98 0.91 0.97 0.62 rs4728329 . . . . . . . . . . . . . 0.194 0.208 T 0.0 0.026 B 0.0 0.013 B 0.403 0.131 N 1 0.090 P 0.945 0.238 L 1.53 0.304 T -1.51 0.368 N 0.025 0.007 -0.903 0.477 T 0.000 0.000 T . . . -2.189 0.006 0.001 0.566 0.055 0.012 0.042 N c -2.672 -2.781 1.0 0.983 0.549 0.223 0 -6.43 0.017 -4.869 0.002 -5.486 0.000 0.000 0.063 0.000 0.016 1.806 0.029 NADP-dependent oxidoreductase domain ENSG00000227471.4 Esophagus_Mucosa 0.9373 0.9868 0.9480 0.8952 0.9992 0.9263 0.9140 0.9183 0.9755 0.9450 0.9862 0.9427 0.88 1 0.9296 0.9204 0.9398 het 864.13 82 7 134225827 . A G 864.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.640;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4303;MQ=59.00;MQ0=0;MQRankSum=0.126;QD=10.54;ReadPosRankSum=0.790;VQSLOD=6.5271;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,36:82:99:894,0,1225 7 134264286 134264286 C T exonic AKR1B15 synonymous SNV AKR1B15:NM_001080538:exon12:c.C1020T:p.F340F 0.34 0.56 0.31 0.14 0.34 0.25 0.3431 0.5308 0.3296 0.1551 0.3234 0.3466 0.3231 0.3235 0.4 0.51 0.34 0.39 . rs6467538 COSM3762387;COSM3762388;COSM3762389 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3191 0.5209 0.3068 0.3122 0.1427 0.3103 0.3317 0.3174 0.2935 0.3709 0.5181 0.3201 0.2848 0.1479 0.3082 0.3339 0.2901 het 273.57 36 7 134264286 . C T 273.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.755;DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-0.365;QD=7.60;ReadPosRankSum=0.052;VQSLOD=6.1497;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,12:36:99:304,0,626 7 134849213 134849213 G A exonic TMEM140 nonsynonymous SNV TMEM140:NM_018295:exon2:c.G20A:p.R7Q 0.46 0.4 0.48 0.26 0.48 0.69 0.5056 0.4234 0.4926 0.2495 0.4743 0.5186 0.4604 0.6637 0.48 0.44 0.51 0.47 0.43 rs3800592 COSM4999172 1(pancreas);1(skin) . . . . . . . . . . . 0.183 0.217 T 0.055 0.213 B 0.008 0.127 B 0.926 0.084 N 1 0.090 P 1.8 0.476 L 2.12 0.197 T -0.98 0.260 N 0.016 0.003 -0.931 0.441 T 0.000 0.000 T . . . 0.057 0.099 3.152 0.937 0.230 0.074 0.133 N c -1.419 -1.519 1.000 0.747 0.672 0.522 0 -5.31 0.025 -0.147 0.101 -1.506 0.010 0.000 0.063 0.000 0.016 9.045 0.353 . ENSG00000272941.1|ENSG00000272941.1|ENSG00000122783.12|ENSG00000105875.9|ENSG00000272941.1|ENSG00000105875.9|ENSG00000122783.12|ENSG00000272941.1|ENSG00000105875.9|ENSG00000122783.12|ENSG00000272941.1|ENSG00000122783.12|ENSG00000272941.1|ENSG00000122783.12|ENSG00000231794.3|ENSG00000122783.12|ENSG00000272941.1|ENSG00000105875.9|ENSG00000105875.9|ENSG00000122783.12|ENSG00000231794.3|ENSG00000272941.1|ENSG00000272941.1|ENSG00000122783.12 Adrenal_Gland|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Liver|Liver|Lung|Muscle_Skeletal|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Whole_Blood 0.5049 0.4181 0.4949 0.6518 0.2453 0.4751 0.5101 0.5139 0.6590 0.4711 0.4235 0.4675 0.64 0.2203 0.4966 0.5149 0.4980 het 2290.93 157 7 134849213 . G A 2290.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.085;DP=157;Dels=0.00;FS=7.759;HRun=0;HaplotypeScore=8.0148;MQ=59.41;MQ0=0;MQRankSum=0.283;QD=14.59;ReadPosRankSum=-2.275;VQSLOD=3.5895;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,82:157:99:2321,0,1812 7 134849280 134849280 T A exonic TMEM140 nonsynonymous SNV TMEM140:NM_018295:exon2:c.T87A:p.F29L 0.91 0.7 0.97 0.99 1. 0.99 0.9749 0.7594 0.9899 0.9969 0.9980 0.9974 0.9846 0.9884 0.93 0.78 1. 0.89 0.99 rs292501 . . . . . . . . . . . . . 1.0 0.010 T 0.012 0.151 B 0.016 0.166 B 0.049 0.232 N 0.997 0.227 P 2.065 0.569 M 2.21 0.184 T -1.71 0.406 N 0.065 0.228 -0.857 0.515 T 0.000 0.000 T . . . 0.290 0.122 5.597 0.685 0.084 0.387 0.258 N c -1.032 -0.936 1.000 0.747 0.672 0.522 0 3.87 0.437 0.108 0.151 -0.320 0.077 0.078 0.221 0.959 0.439 4.954 0.133 . . . 0.9798 0.7575 0.9870 0.9968 0.9973 0.9979 0.9977 0.9845 0.9879 0.9316 0.7656 0.9749 0.9967 0.9975 0.9983 0.9981 0.9857 hom 7751.25 246 7 134849280 . T A 7751.25 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6384;MQ=59.50;MQ0=0;QD=31.51;VQSLOD=9.1214;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,245:246:99:7750,623,0 7 134849577 134849577 A C exonic TMEM140 synonymous SNV TMEM140:NM_018295:exon2:c.A384C:p.A128A 0.46 0.4 0.48 0.26 0.48 0.69 0.5048 0.4246 0.4911 0.2494 0.4722 0.5176 0.4599 0.6619 0.48 0.44 0.51 0.46 0.37 rs2288237 COSM4161818 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5039 0.4187 0.4940 0.6530 0.2451 0.4724 0.5083 0.5130 0.6589 0.4694 0.4221 0.4678 0.64 0.2206 0.4934 0.5130 0.4980 het 626.59 51 7 134849577 . A C 626.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.118;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5779;MQ=60.00;MQ0=0;MQRankSum=1.988;QD=12.29;ReadPosRankSum=-0.122;VQSLOD=5.4319;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,26:51:99:657,0,715 7 134871775 134871775 C T exonic WDR91 synonymous SNV WDR91:NM_014149:exon14:c.G2028A:p.S676S 0.71 0.5 0.84 0.82 0.71 0.81 0.7428 0.5358 0.8817 0.8115 0.7525 0.7306 0.7379 0.7859 0.67 0.55 0.73 0.7 0.59 rs292557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7511 0.5282 0.8726 0.7310 0.8072 0.7372 0.7319 0.7488 0.7844 0.6858 0.5316 0.8493 0.7450 0.8006 0.7342 0.7378 0.7418 het 3184.16 244 7 134871775 . C T 3184.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.904;DP=244;DS;Dels=0.00;FS=5.131;HRun=0;HaplotypeScore=9.6630;MQ=59.40;MQ0=0;MQRankSum=-1.681;QD=13.05;ReadPosRankSum=-0.438;VQSLOD=3.4063;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,115:244:99:3214,0,3294 7 134879830 134879830 G A exonic WDR91 synonymous SNV WDR91:NM_014149:exon9:c.C1251T:p.D417D 0.66 0.5 0.8 0.61 0.71 0.76 0.7169 0.5407 0.8251 0.5925 0.7461 0.7313 0.7091 0.7458 0.66 0.55 0.72 0.65 0.6 rs292575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7204 0.5250 0.8215 0.7274 0.5838 0.7256 0.7292 0.7287 0.7435 0.6694 0.5283 0.8198 0.7384 0.5896 0.7257 0.7340 0.7171 het 647.45 68 7 134879830 . G A 647.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.511;DP=68;Dels=0.00;FS=0.974;HRun=1;HaplotypeScore=1.9577;MQ=59.02;MQ0=0;MQRankSum=1.227;QD=9.52;ReadPosRankSum=0.555;VQSLOD=6.5195;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,28:68:99:677,0,1095 7 134889141 134889141 G A exonic WDR91 nonsynonymous SNV WDR91:NM_014149:exon6:c.C770T:p.P257L 0.66 0.5 0.8 0.61 0.71 0.75 0.7135 0.5334 0.8258 0.5861 0.7432 0.7279 0.7064 0.7452 0.66 0.55 0.72 0.65 0.64 rs292592 COSM324308 1(pancreas);1(lung) . . . . . . . . . . . 0.225 0.188 T 0.899 0.475 P 0.365 0.416 B 0.000 0.629 D 0.000 0.588 P 1.59 0.404 L 0.39 0.659 T -2.45 0.555 N 0.196 0.380 -1.024 0.222 T 0.000 0.000 T . . . 4.743 0.636 24.7 0.999 0.937 0.952 0.635 D c 0.307 0.383 1.000 0.747 0.706 0.609 0 5.4 0.779 6.505 0.734 1.048 0.713 1.000 0.715 0.989 0.536 17.370 0.872 . ENSG00000272941.1|ENSG00000105875.9|ENSG00000105875.9|ENSG00000122783.12|ENSG00000272941.1|ENSG00000105875.9|ENSG00000105875.9|ENSG00000231794.3 Adrenal_Gland|Adrenal_Gland|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Stomach|Testis 0.7206 0.5250 0.8218 0.7344 0.5828 0.7260 0.7290 0.7288 0.7442 0.6689 0.5276 0.8194 0.7384 0.5898 0.7252 0.7335 0.7169 het 634.83 61 7 134889141 . G A 634.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.386;DP=61;Dels=0.00;FS=2.330;HRun=1;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;MQRankSum=0.829;QD=10.41;ReadPosRankSum=-0.770;VQSLOD=5.9400;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,25:61:99:665,0,1072 7 135047703 135047703 T C exonic CNOT4 synonymous SNV CNOT4:NM_001190847:exon11:c.A1863G:p.T621T,CNOT4:NM_013316:exon11:c.A1854G:p.T618T,CNOT4:NM_001190849:exon12:c.A2067G:p.T689T,CNOT4:NM_001190850:exon12:c.A2076G:p.T692T 0.98 0.93 0.99 1. 1. 1. 0.9959 0.9529 0.9984 1 1 0.9999 0.9955 0.9999 0.99 0.96 1. 0.98 0.96 rs6969632 . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . -0.409 0.061 0.368 0.612 0.065 0.144 0.182 N n 0.698 0.191 0.999 0.395 0.563 0.310 0 -8.28 0.009 -0.512 0.063 -2.177 0.004 0.309 0.252 0.917 0.393 12.725 0.564 . . . 0.9967 0.9524 0.9987 1 1 1 0.9998 0.9982 0.9998 0.9865 0.9527 0.9988 1 1 1 0.9998 0.9979 hom 6666.52 239 7 135047703 . T C 6666.52 Mask AC=2;AF=1.00;AN=2;DP=239;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4584;MQ=59.18;MQ0=0;QD=27.89;VQSLOD=5.8969;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,239:239:99:6664,577,0 7 135048804 135048804 C T exonic CNOT4 nonsynonymous SNV CNOT4:NM_001190849:exon11:c.G1633A:p.V545I,CNOT4:NM_001190850:exon11:c.G1642A:p.V548I 0.27 0.16 0.32 0.52 0.25 0.17 0.2653 0.1891 0.3785 0.5157 0.2461 0.2469 0.2464 0.1758 0.24 0.2 0.25 0.17 . rs3812265 COSM4771453;COSM4771452 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.782 0.033 T 0.0 0.026 B 0.0 0.040 B 0.000 0.629 D 0.004 0.810 P . . . 1.03 0.405 T -0.11 0.087 N 0.025 0.007 -0.935 0.435 T 0.000 0.000 T . . . 0.655 0.156 8.526 0.761 0.110 0.843 0.431 D c -0.241 -0.012 0.473 0.207 0.651 0.465 0 4.97 0.653 2.448 0.443 0.935 0.490 1.000 0.715 1.000 0.888 10.91 0.461 . ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000273219.1|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000273219.1|ENSG00000164707.11|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000243317.3|ENSG00000273219.1|ENSG00000164707.11|ENSG00000243317.3|ENSG00000243317.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood 0.2691 0.1851 0.3617 0.2303 0.5216 0.2455 0.2440 0.2444 0.1787 0.2470 0.1823 0.3541 0.2267 0.5224 0.2329 0.2521 0.2556 hom 5254.35 175 7 135048804 . C T 5254.35 Mask AC=2;AF=1.00;AN=2;DP=175;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4909;MQ=58.95;MQ0=0;QD=30.02;VQSLOD=7.8302;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5253,424,0 7 135095270 135095270 A G exonic CNOT4 synonymous SNV CNOT4:NM_001190847:exon7:c.T816C:p.Y272Y,CNOT4:NM_001190848:exon7:c.T816C:p.Y272Y,CNOT4:NM_001190850:exon7:c.T816C:p.Y272Y 1. 1. 1. 1. 1. 1. 0.9995 0.9997 0.9992 1 1 0.9994 0.9989 1 1. 1. 1. 0.88 1. rs2696877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9997 0.9993 1 1 1.0000 0.9993 0.9995 1 0.9996 0.9999 1 0.9967 1 1 0.9993 1 hom 2406.36 85 7 135095270 . A G 2406.36 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4337;MQ=59.18;MQ0=0;QD=28.31;VQSLOD=6.8023;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2439,196,0 7 135269655 135269655 T C exonic NUP205 nonsynonymous SNV NUP205:NM_001329434:exon8:c.T44C:p.M15T,NUP205:NM_015135:exon8:c.T1118C:p.M373T 0.05 0.034 0.05 0.052 0.046 0.074 0.0418 0.0379 0.0197 0.0653 0.0073 0.0396 0.0412 0.0706 0.026 0.025 0.026 . 0.041 rs58392569 COSM3762392 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.857 0.027 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.61 0.004 N 1.6 0.286 T 0.5 0.030 N 0.053 0.035 -1.051 0.141 T 0.004 0.013 T . . . 0.591 0.151 8.096 0.747 0.104 0.524 0.289 D c -0.799 -0.543 0.264 0.188 0.707 0.730 0 3.68 0.412 2.753 0.470 -0.456 0.055 0.986 0.359 0.446 0.262 10.930 0.462 . ENSG00000223718.2|ENSG00000223718.2|ENSG00000223718.2|ENSG00000223718.2|ENSG00000223718.2|ENSG00000223718.2|ENSG00000243317.3|ENSG00000223718.2|ENSG00000223718.2 Artery_Aorta|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.0403 0.0385 0.0203 0.0457 0.0650 0.0086 0.0401 0.0413 0.0708 0.0313 0.0375 0.0334 0.0629 0.0556 0.0077 0.0298 0.0305 het 1052.21 71 7 135269655 . T C 1052.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.941;DP=71;Dels=0.00;FS=0.891;HRun=0;HaplotypeScore=0.9159;MQ=59.41;MQ0=0;MQRankSum=-0.433;QD=14.82;ReadPosRankSum=-0.376;VQSLOD=5.8629;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,39:71:99:1082,0,826 7 135269656 135269656 G A exonic NUP205 nonsynonymous SNV NUP205:NM_001329434:exon8:c.G45A:p.M15I,NUP205:NM_015135:exon8:c.G1119A:p.M373I 0.035 0.033 0.049 0.003 0.047 0.049 0.0331 0.0366 0.0191 0.0073 0.0073 0.0395 0.0356 0.0388 0.025 0.025 0.026 . 0.041 rs61459701 COSM3762393 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.202 0.202 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 D 1.000 0.186 N 0 0.065 N 1.59 0.288 T -0.69 0.197 N 0.047 0.028 -1.035 0.187 T 0.007 0.024 T . . . 1.156 0.205 11.52 0.784 0.119 0.184 0.200 N c -1.288 -1.243 0.709 0.228 0.707 0.730 0 -6.05 0.020 -1.189 0.031 -0.791 0.032 0.049 0.212 0.386 0.252 10.812 0.456 . ENSG00000223718.2|ENSG00000223718.2|ENSG00000223718.2|ENSG00000223718.2|ENSG00000223718.2|ENSG00000223718.2|ENSG00000243317.3|ENSG00000223718.2|ENSG00000223718.2 Artery_Aorta|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.0320 0.0371 0.0199 0.0457 0.0087 0.0086 0.0399 0.0380 0.0388 0.0283 0.0363 0.0322 0.0629 0.0068 0.0077 0.0298 0.0275 het 1046.22 69 7 135269656 . G A 1046.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.152;DP=69;Dels=0.00;FS=0.916;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=0.814;QD=15.16;ReadPosRankSum=-0.525;VQSLOD=6.0387;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,38:69:99:1076,0,850 7 135292080 135292080 G A exonic NUP205 synonymous SNV NUP205:NM_001329434:exon22:c.G2082A:p.A694A,NUP205:NM_015135:exon22:c.G3156A:p.A1052A 0.035 0.036 0.049 0.003 0.046 0.049 0.0331 0.0371 0.0193 0.0074 0.0073 0.0393 0.0363 0.0387 0.038 0.034 0.04 . 0.049 rs61734146 COSM3762394 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0321 0.0377 0.0200 0.0454 0.0087 0.0086 0.0400 0.0383 0.0389 0.0285 0.0371 0.0322 0.0633 0.0068 0.0077 0.0298 0.0275 het 1299.80 101 7 135292080 . G A 1299.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.784;DP=101;Dels=0.00;FS=9.935;HRun=0;HaplotypeScore=3.6806;MQ=59.13;MQ0=0;MQRankSum=-0.547;QD=12.87;ReadPosRankSum=0.703;VQSLOD=3.8613;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,49:101:99:1330,0,1380 7 135292098 135292098 G A exonic NUP205 synonymous SNV NUP205:NM_001329434:exon22:c.G2100A:p.Q700Q,NUP205:NM_015135:exon22:c.G3174A:p.Q1058Q 0.11 0.15 0.062 0.069 0.059 0.19 0.0749 0.1400 0.0333 0.0903 0.0097 0.0529 0.0639 0.1707 0.084 0.13 0.059 0.076 0.066 rs61734151 COSM3762395 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0702 0.1408 0.0333 0.0709 0.0878 0.0113 0.0542 0.0631 0.1671 0.0706 0.1379 0.0489 0.0960 0.0795 0.0109 0.0464 0.0530 het 1260.07 93 7 135292098 . G A 1260.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.347;DP=93;Dels=0.00;FS=7.400;HRun=1;HaplotypeScore=2.9302;MQ=59.55;MQ0=0;MQRankSum=-0.204;QD=13.55;ReadPosRankSum=1.334;VQSLOD=4.4451;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,48:93:99:1290,0,1250 7 135304215 135304215 C T exonic NUP205 synonymous SNV NUP205:NM_001329434:exon29:c.C2934T:p.A978A,NUP205:NM_015135:exon29:c.C4008T:p.A1336A 0.035 0.036 0.049 0.003 0.046 0.049 0.0349 0.0377 0.0201 0.0073 0.0089 0.0422 0.0374 0.0388 0.04 0.035 0.043 . 0.049 rs11550518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0338 0.0382 0.0206 0.0459 0.0086 0.0101 0.0430 0.0402 0.0390 0.0304 0.0379 0.0322 0.0629 0.0068 0.0095 0.0326 0.0306 het 1621.43 119 7 135304215 . C T 1621.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.290;DP=119;Dels=0.00;FS=3.366;HRun=0;HaplotypeScore=2.7809;MQ=60.00;MQ0=0;MQRankSum=-0.146;QD=13.63;ReadPosRankSum=-1.976;VQSLOD=5.0895;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,62:119:99:1651,0,1408 7 135304273 135304273 G C exonic NUP205 nonsynonymous SNV NUP205:NM_001329434:exon29:c.G2992C:p.E998Q,NUP205:NM_015135:exon29:c.G4066C:p.E1356Q 0.98 0.93 0.99 1. 1. 1. 0.9954 0.9495 0.9983 1 1 0.9999 0.9956 0.9998 0.98 0.95 1. 0.97 0.99 rs7810767 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.182 P -1.05 0.011 N 1.6 0.286 T 0.39 0.035 N 0.029 0.010 -0.962 0.388 T 0.000 0.000 T . . . 0.396 0.132 6.583 0.145 0.003 0.313 0.241 N c -0.660 -0.423 0.990 0.319 0.707 0.730 0 5.67 0.876 3.880 0.556 0.038 0.153 1.000 0.715 0.393 0.253 15.937 0.794 . . . 0.9964 0.9481 0.9984 1 1 1 0.9999 0.9973 0.9998 0.9851 0.9481 0.9976 1 1 1 0.9997 0.9980 hom 3217.75 101 7 135304273 . G C 3217.75 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;QD=31.86;VQSLOD=9.1566;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3251,247,0 7 135329690 135329690 T C exonic NUP205 synonymous SNV NUP205:NM_001329434:exon40:c.T4533C:p.A1511A,NUP205:NM_015135:exon40:c.T5607C:p.A1869A 0.25 0.24 0.2 0.25 0.2 0.36 0.2249 0.2397 0.2683 0.2720 0.1879 0.1906 0.2004 0.3151 0.21 0.24 0.19 0.2 0.2 rs12540688 COSM150396 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2219 0.2399 0.2537 0.1790 0.2673 0.1915 0.1904 0.2020 0.3067 0.2119 0.2340 0.2494 0.2086 0.2420 0.1821 0.2002 0.2194 het 2457.98 186 7 135329690 . T C 2457.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.497;DP=186;Dels=0.00;FS=0.548;HRun=1;HaplotypeScore=2.6448;MQ=59.64;MQ0=0;MQRankSum=0.861;QD=13.21;ReadPosRankSum=-0.605;VQSLOD=6.5574;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,94:186:99:2488,0,2509 7 135333172 135333172 C T exonic NUP205 synonymous SNV NUP205:NM_001329434:exon43:c.C4833T:p.N1611N,NUP205:NM_015135:exon43:c.C5907T:p.N1969N 0.054 0.04 0.05 0.055 0.05 0.08 0.0464 0.0418 0.0231 0.0671 0.0079 0.0434 0.0466 0.0828 0.043 0.04 0.045 0.011 0.041 rs61740269 COSM3762396 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0437 0.0423 0.0229 0.0475 0.0652 0.0086 0.0436 0.0452 0.0815 0.0346 0.0409 0.0371 0.0662 0.0589 0.0089 0.0335 0.0346 het 469.71 39 7 135333172 . C T 469.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.335;DP=39;Dels=0.00;FS=2.984;HRun=0;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;MQRankSum=2.992;QD=12.04;ReadPosRankSum=-0.098;VQSLOD=4.1563;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,20:39:99:500,0,508 7 137600690 137600690 C T exonic CREB3L2 nonsynonymous SNV CREB3L2:NM_001253775:exon3:c.G388A:p.V130I,CREB3L2:NM_001318246:exon3:c.G199A:p.V67I,CREB3L2:NM_194071:exon3:c.G388A:p.V130I 0.8 0.97 0.69 0.94 0.63 0.7 0.6893 0.9287 0.7931 0.9243 0.5907 0.6164 0.6476 0.6787 0.72 0.91 0.61 0.81 0.69 rs273957 . . . . . . . . . . . . . 1.0 0.092 T 0.0 0.026 B 0.0 0.013 B 0.121 0.190 N 1 0.090 P -1.67 0.004 N 0.42 0.628 T -0.11 0.087 N 0.041 0.065 -0.976 0.360 T 0.000 0.000 T . . . -0.089 0.085 1.817 0.269 0.013 0.008 0.033 N c -1.133 -1.014 1.000 0.747 0.722 0.854 0 5.01 0.663 0.328 0.193 0.154 0.240 0.000 0.063 0.525 0.275 1.878 0.030 . . . 0.6840 0.9321 0.7863 0.6480 0.9236 0.5874 0.6073 0.6654 0.6779 0.7149 0.9201 0.7662 0.6093 0.9227 0.5615 0.6136 0.6268 het 902.24 88 7 137600690 . C T 902.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.601;DP=88;Dels=0.00;FS=0.807;HRun=1;HaplotypeScore=2.3893;MQ=59.48;MQ0=0;MQRankSum=0.304;QD=10.25;ReadPosRankSum=0.270;VQSLOD=6.7297;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,37:88:99:932,0,1420 7 137612914 137612916 TGG - exonic CREB3L2 nonframeshift deletion CREB3L2:NM_001253775:exon2:c.299_301del:p.T100del,CREB3L2:NM_001318246:exon2:c.110_112del:p.T37del,CREB3L2:NM_194071:exon2:c.299_301del:p.T100del 0.69 0.69 0.66 0.82 0.64 0.64 0.6918 0.7022 0.7989 0.8392 0.6948 0.6675 0.6752 0.6540 0.64 0.67 0.62 . . rs66593747 COSM1579673;COSM5713154;COSM5713153 4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6590 0.6765 0.7613 0.5706 0.8327 0.6346 0.6171 0.6350 0.6315 0.6404 0.6728 0.7319 0.52 0.8470 0.6195 0.6021 0.6299 het 347.59 18 7 137612913 . CTGG C 347.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.532;DP=18;FS=3.274;HRun=0;HaplotypeScore=69.8350;MQ=52.46;MQ0=0;MQRankSum=-1.413;QD=19.31;ReadPosRankSum=-1.060;set=variant2 GT:AD:DP:GQ:PL 0/1:9,9:18:99:387,0,549 7 138312122 138312122 A C exonic SVOPL nonsynonymous SNV SVOPL:NM_174959:exon8:c.T698G:p.F233C,SVOPL:NM_001331192:exon9:c.T881G:p.F294C,SVOPL:NM_001139456:exon11:c.T1154G:p.F385C 0.48 0.35 0.52 0.35 0.74 0.48 0.6225 0.3964 0.4902 0.3091 0.7116 0.7405 0.6126 0.5093 0.63 0.4 0.74 0.42 0.78 rs2305816 COSM3762399;COSM3762400 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.025 0.473 D 1.0 0.899 D 0.983 0.742 D 0.000 0.843 D 0.000 0.513 P 1.32 0.331 L -0.86 0.745 T -3.21 0.648 D 0.314 0.561 -0.878 0.500 T 0.000 0.000 T . . . 6.176 0.852 28.6 0.993 0.573 0.947 0.618 D c 0.585 0.582 1.000 0.427 0.554 0.283 0 5.61 0.853 4.598 0.605 1.199 0.960 1.000 0.715 0.957 0.436 15.809 0.782 Major facilitator superfamily domain . . 0.6197 0.3895 0.5001 0.6308 0.3154 0.7053 0.7453 0.6568 0.5078 0.6124 0.4036 0.5346 0.6457 0.3321 0.6987 0.7437 0.6656 het 791.97 54 7 138312122 . A C 791.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.105;DP=54;Dels=0.00;FS=7.785;HRun=0;HaplotypeScore=1.7608;MQ=60.00;MQ0=0;MQRankSum=0.364;QD=14.67;ReadPosRankSum=-1.370;VQSLOD=4.4772;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,29:54:99:822,0,620 7 138417718 138417718 A G exonic ATP6V0A4 synonymous SNV ATP6V0A4:NM_130840:exon16:c.T1812C:p.H604H,ATP6V0A4:NM_130841:exon16:c.T1812C:p.H604H,ATP6V0A4:NM_020632:exon17:c.T1812C:p.H604H 0.68 0.42 0.78 0.85 0.72 0.72 0.7197 0.4560 0.8401 0.8190 0.7701 0.7174 0.7279 0.7382 0.63 0.47 0.72 0.62 0.66 rs3807154 . . Benign|Benign not_specified|Distal_Renal_Tubular_Acidosis\x2c_Recessive RCV000249102.1|RCV000394628.1 MedGen|MedGen CN169374|CN239177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7292 0.4566 0.8309 0.6935 0.8204 0.7638 0.7161 0.7328 0.7357 0.6619 0.4633 0.8182 0.7033 0.8073 0.7672 0.7224 0.7392 hom 2476.76 79 7 138417718 . A G 2476.76 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.71;MQ0=0;QD=31.35;VQSLOD=9.6325;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2510,214,0 7 138418910 138418910 G A exonic ATP6V0A4 synonymous SNV ATP6V0A4:NM_130840:exon15:c.C1662T:p.F554F,ATP6V0A4:NM_130841:exon15:c.C1662T:p.F554F,ATP6V0A4:NM_020632:exon16:c.C1662T:p.F554F 0.72 0.61 0.77 0.84 0.71 0.7 0.7267 0.6055 0.8367 0.8087 0.7724 0.7120 0.7346 0.7236 0.68 0.61 0.72 0.7 0.67 rs1026435 . . Benign|Benign not_specified|Distal_Renal_Tubular_Acidosis\x2c_Recessive RCV000252095.1|RCV000268302.1 MedGen|MedGen CN169374|CN239177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7341 0.6103 0.8265 0.6811 0.8102 0.7661 0.7141 0.7265 0.7200 0.7038 0.6105 0.8162 0.6656 0.8006 0.7696 0.7244 0.7393 hom 2114.42 69 7 138418910 . G A 2114.42 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.7340;MQ=59.46;MQ0=0;QD=30.64;VQSLOD=9.1198;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2147,166,0 7 138455988 138455988 A G exonic ATP6V0A4 nonsynonymous SNV ATP6V0A4:NM_130840:exon2:c.T5C:p.V2A,ATP6V0A4:NM_130841:exon2:c.T5C:p.V2A,ATP6V0A4:NM_020632:exon3:c.T5C:p.V2A 0.68 0.74 0.56 0.53 0.74 0.78 0.7040 0.7456 0.5317 0.4883 0.7551 0.7327 0.7192 0.7742 0.73 0.75 0.73 0.67 0.71 rs10258719 COSM4417677 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Distal_Renal_Tubular_Acidosis\x2c_Recessive RCV000245255.1|RCV000357816.1 MedGen|MedGen CN169374|CN239177 . . . . . . 0.121 0.277 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P -1.555 0.005 N -1.79 0.838 D 2.37 0.003 N 0.03 0.026 -0.931 0.441 T 0.000 0.000 T . . . 0.533 0.145 7.681 0.882 0.172 0.262 0.227 N c -1.022 -0.829 0.256 0.187 0.554 0.283 0 1.95 0.250 1.117 0.306 -0.321 0.076 0.851 0.302 0.811 0.340 6.399 0.207 . . . 0.6935 0.7440 0.5304 0.7577 0.4828 0.7536 0.7271 0.7117 0.7750 0.7143 0.7438 0.5754 0.8079 0.4726 0.7483 0.7205 0.7230 het 2524.22 236 7 138455988 . A G 2524.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.263;DP=236;DS;Dels=0.01;FS=5.133;HRun=0;HaplotypeScore=10.1922;MQ=58.95;MQ0=0;MQRankSum=0.937;QD=10.61;ReadPosRankSum=-0.001;VQSLOD=4.0459;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,103:236:99:2554,0,3304 7 138486096 138486096 G C exonic TMEM213 nonsynonymous SNV TMEM213:NM_001085429:exon2:c.G107C:p.S36T 0.67 0.74 0.66 0.69 0.63 0.6 0.6506 0.7269 0.6467 0.7219 0.6243 0.6467 0.6544 0.5942 0.66 0.72 0.63 0.71 . rs61729750 COSM3762404;COSM3762403;COSM3762405 1(urinary_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.041 T 0.0 0.026 B 0.0 0.013 B 0.472 0.123 N 1 0.090 P -1.445 0.006 N . . . 1.58 0.009 N 0.024 0.022 -0.954 0.403 T 0.000 0.000 T . . . -2.425 0.004 0.001 0.437 0.033 0.000 0.003 N c -1.794 -1.680 0.000 0.057 0.487 0.133 0 2.16 0.265 0.368 0.200 -1.245 0.015 0.000 0.063 0.000 0.016 4.426 0.108 . . . 0.6327 0.7199 0.6345 0.6787 0.7021 0.6028 0.6272 0.6396 0.5739 0.6471 0.7235 0.6172 0.7285 0.6720 0.5940 0.6137 0.6263 hom 985.78 32 7 138486096 . G C 985.78 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.63;MQ0=0;QD=30.81;VQSLOD=8.7933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:78.25:1019,78,0 7 138583840 138583840 C A exonic KIAA1549 synonymous SNV KIAA1549:NM_001164665:exon9:c.G3708T:p.P1236P,KIAA1549:NM_020910:exon9:c.G3708T:p.P1236P 0.76 0.75 0.82 0.9 0.65 0.68 0.7176 0.7388 0.8426 0.8916 0.7106 0.6851 0.7067 0.6614 0.71 0.75 0.7 0.71 . rs7802841 COSM4161828;COSM4161829 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7212 0.7353 0.8332 0.6538 0.8914 0.7059 0.6862 0.7012 0.6600 0.7168 0.7356 0.7871 0.6733 0.8872 0.7061 0.6882 0.6949 het 3124.10 246 7 138583840 . C A 3124.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.622;DP=246;DS;Dels=0.00;FS=2.846;HRun=0;HaplotypeScore=4.5412;MQ=58.88;MQ0=0;MQRankSum=0.732;QD=12.70;ReadPosRankSum=0.097;VQSLOD=5.7486;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:131,115:246:99:3154,0,3584 7 138596064 138596064 G A exonic KIAA1549 synonymous SNV KIAA1549:NM_001164665:exon4:c.C2973T:p.Y991Y,KIAA1549:NM_020910:exon4:c.C2973T:p.Y991Y 0.49 0.87 0.31 0.19 0.47 0.43 0.5177 0.8226 0.4165 0.2776 0.5014 0.5145 0.5 0.4745 0.56 0.8 0.45 0.52 . rs6969074 COSM4004312;COSM4004313 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4298 0.8247 0.2913 0.4973 0.2001 0.4413 0.4451 0.4297 0.4390 0.5341 0.8173 0.3481 0.4834 0.1890 0.4512 0.4427 0.4467 het 78.37 21 7 138596064 . G A 78.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.206;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=-0.619;QD=3.73;ReadPosRankSum=0.619;VQSLOD=4.8873;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,5:21:99:108,0,437 7 138601572 138601572 C T exonic KIAA1549 nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.G2800A:p.D934N,KIAA1549:NM_020910:exon2:c.G2800A:p.D934N 0.053 0.026 0.025 0.001 0.071 0.15 0.0669 0.0344 0.0350 0.0005 0.0483 0.0726 0.0968 0.1262 0.056 0.029 0.069 0.011 . rs2150283 COSM3762409;COSM3762408 1(large_intestine) . . . . . . . . . . . 0.411 0.101 T 0.53 0.470 P 0.025 0.312 B 0.289 0.039 N 1 0.090 N 1.15 0.294 L 1.97 0.221 T -0.79 0.219 N 0.01 0.004 -1.035 0.187 T 0.002 0.007 T . . . 0.761 0.167 9.224 0.945 0.243 0.017 0.053 N c -0.887 -0.982 0.953 0.280 0.737 0.974 0 0.311 0.150 -0.590 0.058 0.852 0.362 0.000 0.063 0.001 0.043 3.465 0.071 . . . 0.0634 0.0351 0.0327 0.0788 0.0004 0.0439 0.0711 0.0665 0.1267 0.0540 0.0351 0.0501 0.0762 0.0018 0.0490 0.0705 0.0727 het 442.10 32 7 138601572 . C T 442.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.814;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6553;MQ=57.80;MQ0=0;MQRankSum=1.246;QD=13.82;ReadPosRankSum=1.775;VQSLOD=4.6488;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,17:32:99:472,0,361 7 138601706 138601706 C A exonic KIAA1549 nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.G2666T:p.G889V,KIAA1549:NM_020910:exon2:c.G2666T:p.G889V 0.053 0.026 0.025 0.001 0.071 0.15 0.0673 0.0361 0.0356 0.0005 0.0496 0.0736 0.0977 0.1357 0.055 0.028 0.069 0.011 . rs2354336 COSM3762411;COSM3762410 1(large_intestine) . . . . . . . . . . . 0.049 0.614 D 0.139 0.285 B 0.026 0.250 B 0.586 0.111 N 1.000 0.090 N 0 0.065 N 2.02 0.211 T -1.22 0.309 N 0.053 0.088 -0.998 0.304 T 0.002 0.007 T . . . 0.826 0.173 9.626 0.797 0.124 0.095 0.151 N c -1.051 -1.089 0.953 0.280 0.707 0.730 0 0.007 0.133 0.385 0.203 -0.019 0.130 0.001 0.137 0.001 0.043 10.078 0.414 . . . 0.0619 0.0358 0.0325 0.0766 0.0004 0.0436 0.0703 0.0662 0.1245 0.0540 0.0350 0.0501 0.0767 0.0019 0.0487 0.0704 0.0733 het 369.91 25 7 138601706 . C A 369.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.080;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6553;MQ=58.13;MQ0=0;MQRankSum=-0.139;QD=14.80;ReadPosRankSum=-0.582;VQSLOD=5.3077;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,15:25:99:400,0,274 7 138602056 138602056 G A exonic KIAA1549 synonymous SNV KIAA1549:NM_001164665:exon2:c.C2316T:p.P772P,KIAA1549:NM_020910:exon2:c.C2316T:p.P772P 0.053 0.026 0.025 0.001 0.071 0.15 0.0668 0.0338 0.0347 0.0004 0.0482 0.0723 0.0935 0.1266 0.056 0.029 0.069 0.011 . rs61746877 COSM3762413;COSM3762412 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0635 0.0353 0.0327 0.0788 0.0003 0.0438 0.0709 0.0667 0.1283 0.0539 0.0347 0.0501 0.0762 0.0018 0.0490 0.0702 0.0743 het 974.50 50 7 138602056 . G A 974.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.158;DP=50;Dels=0.00;FS=8.387;HRun=0;HaplotypeScore=5.8372;MQ=59.50;MQ0=0;MQRankSum=-0.160;QD=19.49;ReadPosRankSum=1.899;VQSLOD=2.7067;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,31:50:99:1004,0,456 7 138602071 138602071 A G exonic KIAA1549 synonymous SNV KIAA1549:NM_001164665:exon2:c.T2301C:p.T767T,KIAA1549:NM_020910:exon2:c.T2301C:p.T767T 0.088 0.15 0.036 0.001 0.069 0.15 0.0764 0.1446 0.0397 0.0004 0.0478 0.0726 0.1029 0.1267 0.09 0.13 0.069 0.076 . rs61746879 COSM3762414;COSM3762415 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0715 0.1483 0.0380 0.0789 0.0003 0.0439 0.0712 0.0702 0.1287 0.0847 0.1422 0.0525 0.0762 0.0018 0.0493 0.0709 0.0794 het 898.61 47 7 138602071 . A G 898.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.673;DP=47;Dels=0.00;FS=4.452;HRun=1;HaplotypeScore=1.8237;MQ=60.00;MQ0=0;MQRankSum=0.123;QD=19.12;ReadPosRankSum=-0.572;VQSLOD=5.0801;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,31:47:99:929,0,430 7 138602432 138602432 G C exonic KIAA1549 nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.C1940G:p.S647C,KIAA1549:NM_020910:exon2:c.C1940G:p.S647C 0.053 0.026 0.025 . 0.071 0.15 0.0839 0.0440 0.0525 0.0005 0.0584 0.0887 0.1136 0.1462 0.056 0.029 0.069 0.011 . rs61734132 COSM3762416;COSM3762417 1(large_intestine) . . . . . . . . . . . 0.059 0.375 T 0.992 0.657 D 0.707 0.587 P 0.707 0.100 N 1 0.090 N 1.59 0.404 L 1.72 0.266 T -1.67 0.399 N 0.065 0.071 -1.070 0.093 T 0.007 0.023 T . . . 1.797 0.277 14.97 0.979 0.361 0.201 0.207 N c -0.392 -0.581 0.116 0.168 0.745 0.986 0 1.11 0.195 0.937 0.283 0.056 0.163 0.002 0.151 0.001 0.043 7.318 0.255 . . . 0.0633 0.0359 0.0329 0.0794 0.0004 0.0436 0.0706 0.0671 0.1276 0.0539 0.0345 0.0489 0.0762 0.0019 0.0490 0.0704 0.0745 het 450.40 40 7 138602432 . G C 450.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.463;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;MQRankSum=-1.300;QD=11.26;ReadPosRankSum=-0.488;VQSLOD=6.2354;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,19:40:99:480,0,612 7 138602523 138602523 T C exonic KIAA1549 nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.A1849G:p.R617G,KIAA1549:NM_020910:exon2:c.A1849G:p.R617G 0.5 0.94 0.29 0.2 0.42 0.44 0.4581 0.8672 0.3587 0.2591 0.3882 0.4221 0.4647 0.4660 0.54 0.85 0.39 0.54 . rs2774962 COSM150399;COSM1448410 1(stomach);2(haematopoietic_and_lymphoid_tissue);11(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.991 0.020 T 0.0 0.026 B 0.0 0.013 B 0.421 0.046 N 1 0.090 P -0.44 0.028 N 1.93 0.229 T 1.14 0.012 N 0.012 0.017 -1.023 0.228 T 0.000 0.000 T . . . -0.350 0.065 0.510 0.433 0.032 0.004 0.020 N c -1.323 -1.308 0.112 0.167 0.732 0.924 0 0.882 0.182 -0.188 0.096 -0.505 0.051 0.000 0.063 0.000 0.016 3.422 0.069 . . . 0.3945 0.8776 0.2782 0.4295 0.2131 0.3632 0.3857 0.3944 0.4476 0.5074 0.8637 0.3246 0.4007 0.2040 0.3689 0.3838 0.4094 het 33.12 14 7 138602523 . T C 33.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.934;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.623;QD=2.37;ReadPosRankSum=-1.401;VQSLOD=8.1571;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,3:14:63.11:63,0,345 7 138603282 138603282 T C exonic KIAA1549 nonsynonymous SNV KIAA1549:NM_001164665:exon2:c.A1090G:p.T364A,KIAA1549:NM_020910:exon2:c.A1090G:p.T364A . . . . . . 0.2178 0.5128 0.1534 0.1323 0.1569 0.1803 0.2278 0.3075 0.28 0.47 0.18 0.26 . rs59985563 COSM1448417;COSM150400 1(haematopoietic_and_lymphoid_tissue);1(stomach);5(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.25 0.187 T 0.002 0.112 B 0.003 0.112 B 0.828 0.091 N 1 0.090 P 1.39 0.351 L 1.87 0.241 T -1.16 0.297 N 0.022 0.008 -0.907 0.472 T 0.000 0.000 T . . . -0.650 0.047 0.094 0.813 0.132 0.055 0.113 N c -1.221 -1.270 0.224 0.184 0.719 0.830 0 -2.67 0.057 -1.435 0.025 0.112 0.206 0.000 0.063 0.003 0.074 3.949 0.088 . . . 0.2085 0.5190 0.1537 0.1692 0.1368 0.1556 0.1825 0.1818 0.3043 0.2707 0.5079 0.1826 0.1689 0.1388 0.1683 0.1812 0.2111 het 3970.05 250 7 138603282 . T C 3970.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.850;DP=250;DS;Dels=0.00;FS=1.096;HRun=0;HaplotypeScore=6.7336;MQ=59.33;MQ0=0;MQRankSum=0.293;QD=15.88;ReadPosRankSum=0.045;VQSLOD=4.4312;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:3310,0,3581 7 138732457 138732457 G A exonic ZC3HAV1 synonymous SNV ZC3HAV1:NM_020119:exon13:c.C2592T:p.F864F 0.42 0.47 0.35 0.33 0.49 0.43 0.4534 0.4628 0.3062 0.3114 0.5369 0.4924 0.5077 0.4309 0.49 0.47 0.5 0.49 0.47 rs3735008 COSM3762418 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4491 0.4610 0.3114 0.5331 0.3140 0.5371 0.4903 0.4648 0.4259 0.4867 0.4758 0.3681 0.5066 0.3096 0.5252 0.5096 0.4847 hom 6061.90 186 7 138732457 . G A 6061.90 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.9115;MQ=59.21;MQ0=0;QD=32.59;VQSLOD=9.2639;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:6061,472,0 7 138732497 138732497 G A exonic ZC3HAV1 nonsynonymous SNV ZC3HAV1:NM_020119:exon13:c.C2552T:p.T851I 0.53 0.71 0.38 0.36 0.51 0.59 0.5057 0.6951 0.3258 0.3506 0.5448 0.5106 0.5496 0.5556 0.58 0.7 0.52 0.61 0.48 rs3735007 COSM3762419 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.778 0.066 N 1 0.090 P 0.225 0.096 N 2.51 0.143 T 0.25 0.045 N 0.016 0.004 -0.976 0.359 T 0.000 0.000 T . . . -1.563 0.015 0.002 0.845 0.148 0.013 0.045 N c -1.779 -1.826 0.935 0.272 0.706 0.609 0 -5.97 0.020 -0.535 0.062 -0.571 0.046 0.000 0.063 0.009 0.108 17.269 0.869 Poly(ADP-ribose) polymerase\x2c catalytic domain ENSG00000146858.7 Nerve_Tibial 0.4961 0.6991 0.3315 0.5776 0.3537 0.5436 0.5078 0.5016 0.5509 0.5627 0.7006 0.3935 0.5497 0.3418 0.5301 0.5262 0.5224 hom 4161.91 132 7 138732497 . G A 4161.91 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.08;MQ0=0;QD=31.53;VQSLOD=9.7344;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4161,331,0 7 138740037 138740037 G C exonic ZC3HAV1 nonsynonymous SNV ZC3HAV1:NM_020119:exon10:c.C2101G:p.Q701E 0.57 0.46 0.59 0.68 0.56 0.58 0.5597 0.4556 0.5989 0.6930 0.6177 0.5478 0.6126 0.5497 0.53 0.46 0.57 0.59 0.49 rs2297236 COSM1131699 4(prostate);1(large_intestine) . . . . . . . . . . . 0.401 0.138 T 0.056 0.214 B 0.024 0.190 B 0.398 0.132 N 1 0.090 P 2.135 0.597 M 3.3 0.069 T -0.93 0.249 N 0.013 0.010 -1.009 0.272 T 0.000 0.000 T . . . 1.742 0.270 14.65 0.921 0.209 0.106 0.159 N c -0.849 -0.929 0.817 0.244 0.732 0.924 0 1.78 0.238 0.457 0.214 0.998 0.613 0.003 0.159 0.336 0.243 6.474 0.211 . ENSG00000146858.7 Nerve_Tibial 0.5670 0.4518 0.5966 0.6052 0.6940 0.6160 0.5477 0.5541 0.5455 0.5493 0.4578 0.5789 0.57 0.7062 0.6016 0.5694 0.5786 hom 4292.12 122 7 138740037 . G C 4292.12 Mask AC=2;AF=1.00;AN=2;DP=122;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;QD=35.18;VQSLOD=9.3626;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4292,334,0 7 139653196 139653196 A C exonic TBXAS1 nonsynonymous SNV TBXAS1:NM_001061:exon6:c.A483C:p.E161D,TBXAS1:NM_001314028:exon6:c.A423C:p.E141D,TBXAS1:NM_030984:exon6:c.A483C:p.E161D,TBXAS1:NM_001166253:exon7:c.A621C:p.E207D,TBXAS1:NM_001166254:exon8:c.A279C:p.E93D,TBXAS1:NM_001130966:exon10:c.A483C:p.E161D 1. 1. 0.99 1. 0.99 1. 0.9934 0.9992 0.9951 1 0.9976 0.9906 0.9890 0.9946 0.99 1. 0.99 0.99 0.99 rs5768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9934 0.9992 0.9948 0.9737 1 0.9983 0.9917 0.9920 0.9948 0.9964 0.9995 0.9964 0.9801 1 0.9980 0.9938 1 hom 4572.40 160 7 139653196 . A C 4572.40 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9066;MQ=59.36;MQ0=0;QD=28.58;VQSLOD=8.1538;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4572,340,0 7 139724555 139724555 C T exonic PARP12 synonymous SNV PARP12:NM_022750:exon12:c.G1911A:p.P637P 0.38 0.55 0.39 0.5 0.21 0.17 0.2835 0.5313 0.4492 0.5665 0.1899 0.2198 0.2478 0.1602 0.36 0.63 0.23 0.36 0.17 rs3735352 COSM4004326 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2860 0.5392 0.4527 0.1975 0.5676 0.1871 0.2198 0.2536 0.1635 0.3182 0.5175 0.3950 0.1556 0.5720 0.1910 0.2067 0.2735 het 1200.59 89 7 139724555 . C T 1200.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.776;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6307;MQ=60.00;MQ0=0;MQRankSum=0.883;QD=13.49;ReadPosRankSum=0.587;VQSLOD=6.1849;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,46:89:99:1231,0,1023 7 139727135 139727135 G A exonic PARP12 synonymous SNV PARP12:NM_022750:exon10:c.C1569T:p.F523F 0.3 0.28 0.36 0.53 0.2 0.16 0.2523 0.2799 0.4332 0.5883 0.1729 0.2069 0.2093 0.1505 0.23 0.28 0.2 0.24 0.16 rs2286196 COSM4415292 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2589 0.2889 0.4337 0.1885 0.5869 0.1709 0.2058 0.2350 0.1527 0.2430 0.2805 0.3684 0.1533 0.5835 0.1729 0.1956 0.2434 het 1031.57 88 7 139727135 . G A 1031.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.203;DP=88;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7670;MQ=60.00;MQ0=0;MQRankSum=1.420;QD=11.72;ReadPosRankSum=1.893;VQSLOD=5.3472;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,37:88:99:1062,0,1514 7 139757712 139757712 C A exonic PARP12 nonsynonymous SNV PARP12:NM_022750:exon2:c.G449T:p.W150L 0.02 0.017 0.032 . 0.05 0.0072 0.0325 0.0214 0.0217 0.0023 0.0313 0.0444 0.0288 0.0152 0.042 0.025 0.051 . 0.041 rs61729681 . . . . . . . . . . . . . 0.647 0.049 T 0.0 0.026 B 0.001 0.040 B 0.131 0.028 N 1 0.090 N 0.46 0.130 N 1.76 0.260 T -0.76 0.212 N 0.113 0.231 -1.044 0.160 T 0.004 0.014 T . . . 1.514 0.244 13.39 0.923 0.211 0.036 0.087 N c -1.034 -0.956 0.907 0.262 0.719 0.830 0 -3.13 0.049 0.083 0.146 -0.404 0.062 0.006 0.172 0.927 0.401 3.393 0.068 Zinc finger\x2c CCCH-type . . 0.0327 0.0211 0.0243 0.0754 0.0020 0.0291 0.0428 0.0343 0.0167 0.0309 0.0237 0.0286 0.0861 0.0006 0.0301 0.0377 0.0285 het 2028.34 116 7 139757712 . C A 2028.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.595;DP=116;Dels=0.00;FS=7.430;HRun=1;HaplotypeScore=1.9806;MQ=59.80;MQ0=0;MQRankSum=-0.765;QD=17.49;ReadPosRankSum=-2.424;VQSLOD=3.0560;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,68:116:99:2058,0,1390 7 139797431 139797431 G T exonic KDM7A nonsynonymous SNV KDM7A:NM_030647:exon15:c.C1930A:p.R644S 0.33 0.4 0.28 0.24 0.33 0.34 0.3218 0.3977 0.2310 0.2571 0.2576 0.3472 0.3555 0.2964 0.35 0.38 0.34 0.43 0.33 rs6950119 COSM321080 1(pancreas);1(prostate);1(lung);1(cervix);2(large_intestine) . . . . . . . . . . . 0.602 0.056 T 0.0 0.026 B 0.0 0.013 B 0.001 0.403 N 0.753 0.296 P -2.085 0.002 N 2.92 0.099 T -0.33 0.125 N 0.249 0.304 -0.941 0.425 T 0.000 0.000 T . . . 2.405 0.350 18.85 0.806 0.128 0.170 0.194 N c -0.820 -0.526 0.025 0.136 0.563 0.310 0 3.18 0.355 2.756 0.470 -0.428 0.059 1.000 0.715 0.990 0.544 8.530 0.323 . . . 0.3147 0.3919 0.2405 0.4606 0.2621 0.2502 0.3391 0.3481 0.2920 0.3330 0.3954 0.2871 0.5232 0.2785 0.2491 0.3232 0.2955 het 1298.10 105 7 139797431 . G T 1298.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.240;DP=105;Dels=0.00;FS=0.760;HRun=1;HaplotypeScore=0.6651;MQ=59.42;MQ0=0;MQRankSum=1.086;QD=12.36;ReadPosRankSum=1.618;VQSLOD=6.2936;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,52:105:99:1328,0,1352 7 139801777 139801777 T G exonic KDM7A synonymous SNV KDM7A:NM_030647:exon12:c.A1612C:p.R538R 0.33 0.42 0.28 0.24 0.34 0.35 0.3223 0.3988 0.2300 0.2562 0.2579 0.3469 0.3533 0.3003 0.35 0.39 0.34 0.43 0.33 rs1062277 COSM3762429 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3176 0.4005 0.2432 0.4616 0.2633 0.2508 0.3410 0.3520 0.2992 0.3354 0.4045 0.2876 0.5232 0.2778 0.2491 0.3231 0.2963 het 3158.85 250 7 139801777 . T G 3158.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.593;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6767;MQ=59.37;MQ0=0;MQRankSum=-2.885;QD=12.64;ReadPosRankSum=0.125;VQSLOD=3.5428;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:114,136:250:99:3189,0,2977 7 140051091 140051091 G A exonic SLC37A3 synonymous SNV SLC37A3:NM_001287498:exon9:c.C864T:p.C288C,SLC37A3:NM_032295:exon9:c.C864T:p.C288C,SLC37A3:NM_207113:exon9:c.C864T:p.C288C 0.38 0.3 0.37 0.41 0.46 0.39 0.4294 0.3173 0.4104 0.4408 0.4454 0.4559 0.4358 0.3937 0.41 0.33 0.46 0.38 0.43 rs12703775 COSM5438542;COSM150403 1(stomach);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4283 0.3169 0.4003 0.3990 0.4399 0.4484 0.4571 0.4410 0.3956 0.4162 0.3268 0.4296 0.4 0.4355 0.4475 0.4559 0.4551 het 1129.55 98 7 140051091 . G A 1129.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.881;DP=98;Dels=0.00;FS=4.203;HRun=0;HaplotypeScore=1.8332;MQ=59.76;MQ0=0;MQRankSum=-0.442;QD=11.53;ReadPosRankSum=0.556;VQSLOD=5.8827;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,45:98:99:1160,0,1598 7 140080087 140080087 C G exonic SLC37A3 nonsynonymous SNV SLC37A3:NM_001287498:exon3:c.G193C:p.V65L,SLC37A3:NM_032295:exon3:c.G193C:p.V65L,SLC37A3:NM_207113:exon3:c.G193C:p.V65L 0.37 0.21 0.36 0.45 0.46 0.44 0.4325 0.2442 0.4080 0.4743 0.4448 0.4573 0.4361 0.4411 0.39 0.25 0.46 0.34 0.43 rs62490396 COSM4004327;COSM150404 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(kidney);1(large_intestine) . . . . . . . . . . . 0.734 0.139 T 0.0 0.154 B 0.002 0.133 B 0.064 0.022 N 1 0.090 P 0.49 0.133 N 2.3 0.414 T -0.17 0.156 N 0.049 0.193 -0.951 0.409 T 0.000 0.000 T . . . 1.248 0.215 12.00 0.942 0.239 0.043 0.097 N c -0.893 -0.783 0.068 0.155 0.707 0.730 0 1.88 0.245 0.132 0.156 0.042 0.156 0.002 0.151 0.754 0.323 4.757 0.124 Major facilitator superfamily domain ENSG00000157800.13|ENSG00000157800.13 Nerve_Tibial|Whole_Blood 0.4330 0.2401 0.3983 0.4309 0.4785 0.4484 0.4566 0.4463 0.4426 0.3952 0.2489 0.4272 0.4172 0.4807 0.4484 0.4523 0.4593 het 1122.30 88 7 140080087 . C G 1122.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.075;DP=88;Dels=0.00;FS=3.272;HRun=0;HaplotypeScore=1.8991;MQ=60.00;MQ0=0;MQRankSum=1.430;QD=12.75;ReadPosRankSum=-0.402;VQSLOD=5.3548;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,41:88:99:1152,0,1264 7 140125750 140125750 T C exonic RAB19 nonsynonymous SNV RAB19:NM_001008749:exon4:c.T454C:p.Y152H 0.15 0.036 0.12 0.07 0.24 0.3 0.2189 0.0516 0.0946 0.0689 0.2765 0.2584 0.2296 0.3065 0.2 0.061 0.27 0.15 0.19 rs2948386 COSM3762430 1(skin);2(large_intestine) . . . . . . . . . . . 0.375 0.114 T 0.0 0.026 B 0.001 0.040 B 0.187 0.169 N 1.000 0.182 P 0.315 0.103 N -1.27 0.793 T -0.18 0.098 N 0.038 0.025 -1.051 0.140 T 0.000 0.000 T . . . 0.153 0.108 4.174 0.873 0.166 0.049 0.105 N c -1.264 -1.204 0.999 0.388 0.615 0.372 0 -6.44 0.017 -0.205 0.093 -0.219 0.097 0.024 0.198 0.607 0.290 19.431 0.947 P-loop containing nucleoside triphosphate hydrolase|Small GTP-binding protein domain . . 0.2183 0.0518 0.1014 0.2169 0.0681 0.2733 0.2631 0.2220 0.3105 0.1855 0.0614 0.1017 0.1921 0.0792 0.2597 0.2543 0.2223 het 2566.76 212 7 140125750 . T C 2566.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.332;DP=212;DS;Dels=0.00;FS=1.099;HRun=0;HaplotypeScore=10.6317;MQ=59.06;MQ0=0;MQRankSum=-0.148;QD=12.11;ReadPosRankSum=-0.772;VQSLOD=4.1161;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,94:212:99:2597,0,2955 7 140258000 140258000 T C exonic DENND2A synonymous SNV DENND2A:NM_001318052:exon10:c.A1902G:p.S634S,DENND2A:NM_001318053:exon11:c.A1902G:p.S634S,DENND2A:NM_015689:exon11:c.A1902G:p.S634S 0.56 0.3 0.51 0.84 0.6 0.61 0.5799 0.3334 0.5323 0.8494 0.6352 0.5761 0.5828 0.6111 0.52 0.36 0.6 0.54 0.56 rs12704003 COSM4161845;COSM4161844 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5808 0.3278 0.5315 0.4896 0.8455 0.6305 0.5808 0.5577 0.6088 0.5370 0.3284 0.5263 0.4934 0.8541 0.6156 0.6024 0.6102 hom 3667.22 124 7 140258000 . T C 3667.22 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6722;MQ=60.00;MQ0=0;QD=29.57;VQSLOD=7.9802;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3667,295,0 7 140301731 140301731 G T exonic DENND2A nonsynonymous SNV DENND2A:NM_001318052:exon2:c.C467A:p.P156H,DENND2A:NM_001318053:exon3:c.C467A:p.P156H,DENND2A:NM_015689:exon3:c.C467A:p.P156H 0.98 1. 0.97 1. 0.92 0.99 0.9549 0.9890 0.9775 1 0.9360 0.9364 0.9478 0.9781 0.95 0.99 0.94 0.97 0.87 rs269243 . . . . . . . . . . . . . 0.322 0.135 T 0.0 0.026 B 0.0 0.013 B 0.151 0.180 N 1 0.090 P -1.04 0.011 N 3.7 0.400 T 1.94 0.004 N 0.008 0.207 -1.022 0.230 T 0.000 0.000 T . . . 0.623 0.154 8.317 0.920 0.207 0.164 0.192 N c -0.978 -0.812 0.999 0.396 0.706 0.609 0 2.77 0.315 1.999 0.402 -0.316 0.077 1.000 0.715 0.008 0.104 4.226 0.100 . . . 0.9553 0.9898 0.9726 0.9625 0.9999 0.9344 0.9361 0.9527 0.9773 0.9512 0.9896 0.9702 0.9834 0.9994 0.9224 0.9290 0.9449 hom 5220.36 176 7 140301731 . G T 5220.36 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9399;MQ=58.86;MQ0=0;QD=29.66;VQSLOD=4.0995;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,170:176:99:5219,454,0 7 141420768 141420768 A G exonic WEE2 synonymous SNV WEE2:NM_001105558:exon5:c.A792G:p.A264A 0.57 0.81 0.49 0.33 0.51 0.61 0.5333 0.7459 0.5117 0.3173 0.5372 0.5159 0.5311 0.6035 0.59 0.76 0.5 0.54 0.63 rs6967301 COSM4004329 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5274 0.7548 0.5119 0.5631 0.3075 0.5337 0.5098 0.5102 0.6052 0.5691 0.7402 0.5048 0.5364 0.2995 0.5338 0.5125 0.5470 hom 6461.93 216 7 141420768 . A G 6461.93 Mask AC=2;AF=1.00;AN=2;DP=216;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.4488;MQ=59.44;MQ0=0;QD=29.92;VQSLOD=4.7633;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6461,523,0 7 141672705 141672705 G A exonic TAS2R38 nonsynonymous SNV TAS2R38:NM_176817:exon1:c.C785T:p.A262V 0.43 0.33 0.29 0.32 0.54 0.64 0.5075 0.3277 0.2984 0.3296 0.6320 0.5510 0.5407 0.6321 0.48 0.34 0.54 0.41 0.61 rs1726866 COSM150406 1(stomach);2(prostate);1(large_intestine) drug response Phenylthiocarbamide_tasting RCV000003039.1 MedGen C1868398 . . . . . . 0.041 0.419 D 0.097 0.240 B 0.117 0.304 B 0.041 0.239 N 1 0.090 P 2.085 0.579 M 1.22 0.370 T -1.31 0.328 N 0.032 0.188 -0.947 0.415 T 0.000 0.000 T . . . 2.712 0.387 20.9 0.984 0.411 0.071 0.130 N c -0.616 -0.672 0.000 0.012 0.487 0.133 0 2.94 0.330 1.230 0.320 0.135 0.219 0.002 0.151 0.435 0.260 6.582 0.217 . ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3|ENSG00000228775.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5016 0.3218 0.3048 0.4963 0.3251 0.6281 0.5516 0.4934 0.6344 0.4874 0.3252 0.3461 0.4834 0.3022 0.6258 0.5713 0.5765 hom 4051.65 133 7 141672705 . G A 4051.65 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.120;DP=133;Dels=0.00;FS=2.696;HRun=1;HaplotypeScore=5.4739;MQ=59.37;MQ0=0;MQRankSum=0.897;QD=30.46;ReadPosRankSum=0.730;VQSLOD=4.0905;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,131:133:99:3991,280,0 7 141747658 141747658 A G exonic MGAM nonsynonymous SNV MGAM:NM_004668:exon22:c.A2572G:p.N858D 0.99 0.98 1. 1. 1. 1. 0.9981 0.9777 0.9996 1 1 0.9999 1 1 0.99 0.98 1. 0.95 . rs2960746 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.337 N 0.999 0.214 P -3.71 0.000 N -1.37 0.802 T 4.38 0.001 N 0.043 0.064 -0.928 0.444 T 0.000 0.000 T . . . 1.845 0.283 15.26 0.596 0.061 0.042 0.096 N c -0.815 -0.431 0.226 0.184 0.487 0.133 0 5.37 0.769 6.279 0.725 0.135 0.219 1.000 0.715 0.994 0.587 13.276 0.595 . . . 0.9985 0.9788 0.9994 0.9999 1 1 0.9999 0.9991 1 0.9943 0.9798 1 1 1 1 0.9999 0.9990 hom 1438.54 47 7 141747658 . A G 1438.54 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=30.61;VQSLOD=7.6092;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1472,111,0 7 141755358 141755358 T C exonic MGAM synonymous SNV MGAM:NM_004668:exon28:c.T3315C:p.I1105I 0.23 0.29 0.25 0.2 0.2 0.22 0.2161 0.2527 0.3174 0.2155 0.1630 0.1939 0.2244 0.2341 0.2 0.23 0.18 0.2 . rs67998329 COSM4004341;COSM4004339;COSM4004340 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2179 0.2481 0.3036 0.2617 0.2147 0.1610 0.1909 0.2294 0.2345 0.1996 0.2486 0.2685 0.2450 0.2089 0.1495 0.1772 0.1973 het 1810.95 162 7 141755358 . T C 1810.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.833;DP=162;Dels=0.00;FS=6.333;HRun=0;HaplotypeScore=3.3978;MQ=59.77;MQ0=0;MQRankSum=-0.239;QD=11.18;ReadPosRankSum=-1.244;VQSLOD=3.9076;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,68:162:99:1841,0,2399 7 141759676 141759676 T C exonic MGAM synonymous SNV MGAM:NM_004668:exon33:c.T3969C:p.N1323N 0.19 0.14 0.24 0.17 0.19 0.21 0.2420 0.1759 0.3695 0.2054 0.1909 0.2332 0.25 0.2673 0.17 0.14 0.18 0.11 . rs62477620 COSM4004343;COSM4004344;COSM4004342 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2069 0.1483 0.2988 0.2609 0.1741 0.1544 0.1899 0.2255 0.2330 0.1666 0.1488 0.2572 0.2450 0.1696 0.1407 0.1747 0.1871 het 306.81 25 7 141759676 . T C 306.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.013;DP=25;Dels=0.00;FS=4.675;HRun=0;HaplotypeScore=0.8941;MQ=58.06;MQ0=0;MQRankSum=-0.903;QD=12.27;ReadPosRankSum=0.465;VQSLOD=4.1088;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,11:25:99:337,0,303 7 141952110 141952110 G A exonic PRSS58 synonymous SNV PRSS58:NM_001001317:exon6:c.C657T:p.A219A 0.21 0.21 0.23 0.0089 0.35 0.24 0.2863 0.2415 0.1571 0.0035 0.3051 0.3638 0.2566 0.2338 0.33 0.24 0.37 0.18 0.37 rs1052406 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2821 0.2387 0.1705 0.3629 0.0028 0.2950 0.3685 0.2982 0.2308 0.2986 0.2397 0.1916 0.4172 0.0012 0.3033 0.3667 0.3112 het 453.59 37 7 141952110 . G A 453.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.667;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9846;MQ=58.99;MQ0=0;MQRankSum=0.686;QD=12.26;ReadPosRankSum=1.051;VQSLOD=6.5253;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,20:37:99:484,0,460 7 142460865 142460865 T C exonic PRSS1 synonymous SNV PRSS1:NM_002769:exon5:c.T738C:p.N246N 0.39 0.4 0.53 0.22 0.58 0.28 0.5041 0.4361 0.5517 0.2309 0.6035 0.5802 0.5044 0.3087 . . . 0.43 0.59 rs6667 COSM4595264 1(upper_aerodigestive_tract) Benign\x2cBenign Hereditary_pancreatitis\x2cnot_specified RCV000030385.1\x2cRCV000248971.1 MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen C0238339:167800:ORPHA676:68072000\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5090 0.4296 0.5615 0.5619 0.2303 0.6053 0.5784 0.5286 0.3050 0.5213 0.4502 0.5311 0.5933 0.2094 0.5940 0.5740 0.5591 het 1840.01 163 7 142460865 . T C 1840.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.195;DP=163;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=4.6525;MQ=58.35;MQ0=0;MQRankSum=0.288;QD=11.29;ReadPosRankSum=-0.219;VQSLOD=4.8330;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,68:163:99:1870,0,2224 7 142630524 142630524 G A exonic TRPV5 synonymous SNV TRPV5:NM_019841:exon1:c.C33T:p.P11P . . . . . . 0.0002 0 0 0 0.0002 0.0003 0 6.102e-05 0.0003 . 0.0005 . . rs377258108 COSM3381839 1(pancreas) Uncertain significance not_provided RCV000054758.1 MedGen CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0 5.966e-05 0 0 0.0002 0.0004 0 9.75e-05 0.0002 0 0 0 0 0 0.0003 0.0010 het 2022.19 123 7 142630524 . G A 2022.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.371;DP=123;Dels=0.00;FS=3.409;HRun=0;HaplotypeScore=2.9740;MQ=58.42;MQ0=0;MQRankSum=-0.402;QD=16.44;ReadPosRankSum=0.037;VQSLOD=3.4163;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,73:123:99:2052,0,1144 7 142724062 142724062 C T exonic OR9A2 nonsynonymous SNV OR9A2:NM_001001658:exon1:c.G158A:p.R53H 0.088 0.14 0.055 0.038 0.058 0.12 0.0765 0.1355 0.0825 0.0355 0.0343 0.0668 0.0606 0.1136 0.088 0.13 0.068 0.11 0.066 rs9885986 . . . . . . . . . . . . . 0.079 0.337 T 0.056 0.214 B 0.015 0.162 B 0.401 0.045 N 1 0.090 P 0.3 0.102 N 5.28 0.011 T -0.88 0.238 N 0.035 0.020 -0.924 0.451 T 0.000 0.000 T . . . 1.126 0.202 11.35 0.926 0.215 0.035 0.086 N c -1.107 -1.108 0.888 0.257 0.487 0.133 0 2.31 0.277 -1.263 0.029 -0.417 0.060 0.000 0.063 0.157 0.207 6.005 0.187 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0742 0.1361 0.0789 0.0606 0.0361 0.0308 0.0691 0.0699 0.1150 0.0783 0.1316 0.0919 0.0662 0.0464 0.0321 0.0630 0.0468 het 2051.58 162 7 142724062 . C T 2051.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.614;DP=162;Dels=0.00;FS=2.842;HRun=0;HaplotypeScore=1.7998;MQ=58.86;MQ0=0;MQRankSum=0.764;QD=12.66;ReadPosRankSum=0.268;VQSLOD=6.5391;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,81:162:99:2082,0,2042 7 142749737 142749737 C T exonic OR6V1 synonymous SNV OR6V1:NM_001001667:exon1:c.C300T:p.Y100Y 0.14 0.32 0.084 0.035 0.082 0.087 0.0942 0.2869 0.0944 0.0340 0.0376 0.0818 0.0646 0.0855 0.14 0.26 0.083 0.2 . rs17164103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0895 0.2905 0.0938 0.0603 0.0345 0.0342 0.0844 0.0812 0.0855 0.1311 0.2838 0.1086 0.0695 0.0457 0.0361 0.0812 0.0575 het 3948.01 242 7 142749737 . C T 3948.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.720;DP=242;DS;Dels=0.00;FS=1.573;HRun=2;HaplotypeScore=9.3734;MQ=59.30;MQ0=0;MQRankSum=2.607;QD=16.31;ReadPosRankSum=-1.283;VQSLOD=3.0143;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,121:242:99:3330,0,3228 7 142749953 142749953 C T exonic OR6V1 synonymous SNV OR6V1:NM_001001667:exon1:c.C516T:p.I172I 0.29 0.69 0.2 0.036 0.2 0.18 0.2112 0.6262 0.1585 0.0343 0.1169 0.1941 0.2027 0.2015 0.33 0.59 0.2 0.36 . rs11975892 COSM3762447;COSM3762448 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2022 0.6315 0.1607 0.2067 0.0350 0.1134 0.1987 0.2052 0.2029 0.2899 0.6163 0.1890 0.2086 0.0458 0.1226 0.1814 0.1640 het 3207.57 249 7 142749953 . C T 3207.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.271;DP=249;DS;Dels=0.00;FS=7.941;HRun=1;HaplotypeScore=2.6512;MQ=59.73;MQ0=0;MQRankSum=0.265;QD=12.88;ReadPosRankSum=0.673;VQSLOD=4.8989;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:131,118:249:99:3238,0,3754 7 142750147 142750147 C T exonic OR6V1 nonsynonymous SNV OR6V1:NM_001001667:exon1:c.C710T:p.S237F 0.082 0.12 0.066 0.035 0.082 0.087 0.0803 0.1292 0.0875 0.0340 0.0376 0.0812 0.0546 0.0852 0.096 0.12 0.083 0.065 . rs10245778 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D . . . 0.989 0.243 P 3.33 0.910 M 8.15 0.003 T -5.5 0.858 D 0.126 0.143 -0.909 0.469 T 0.000 0.000 T . . . 5.484 0.745 26.2 0.997 0.839 0.560 0.298 D c 0.363 0.186 0.000 0.046 0.487 0.133 0 3.84 0.433 1.367 0.336 0.789 0.320 0.001 0.137 0.944 0.418 10.300 0.426 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0780 0.1293 0.0854 0.0603 0.0345 0.0342 0.0838 0.0758 0.0851 0.0887 0.1358 0.0967 0.0695 0.0458 0.0361 0.0808 0.05 het 3014.96 241 7 142750147 . C T 3014.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.785;DP=241;DS;Dels=0.00;FS=5.407;HRun=1;HaplotypeScore=11.8805;MQ=59.46;MQ0=0;MQRankSum=-0.559;QD=12.51;ReadPosRankSum=-0.487;VQSLOD=3.4935;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,111:241:99:3045,0,3798 7 142919731 142919731 C A exonic TAS2R40 nonsynonymous SNV TAS2R40:NM_176882:exon1:c.C560A:p.S187Y 0.082 0.14 0.069 0.022 0.058 0.1 0.0711 0.1416 0.0772 0.0259 0.0330 0.0629 0.0567 0.0978 0.083 0.13 0.059 0.098 0.057 rs10260248 . . . . . . . . . . . . . 0.928 0.023 T 0.759 0.415 P 0.355 0.412 B 0.269 0.038 U 1 0.090 P 2.42 0.702 M 5.65 0.008 T -2.83 0.597 D 0.092 0.095 -0.905 0.475 T 0.000 0.000 T . . . 0.427 0.135 6.845 0.198 0.007 0.021 0.061 N c -0.103 -0.167 1.000 0.427 0.447 0.083 0 2.07 0.259 -0.851 0.044 0.077 0.185 0.000 0.063 0.977 0.480 7.099 0.243 . ENSG00000178826.6|ENSG00000231840.1|ENSG00000106123.7 Liver|Liver|Thyroid 0.0682 0.1445 0.0741 0.0537 0.0263 0.0293 0.0642 0.0600 0.0956 0.0791 0.1420 0.0778 0.0497 0.0328 0.0312 0.0614 0.0490 het 2456.14 208 7 142919731 . C A 2456.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.041;DP=208;Dels=0.00;FS=3.196;HRun=0;HaplotypeScore=2.5365;MQ=59.38;MQ0=0;MQRankSum=0.878;QD=11.81;ReadPosRankSum=0.855;VQSLOD=6.4261;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:114,93:208:99:2486,0,3124 7 143017807 143017807 G T exonic CLCN1 nonsynonymous SNV CLCN1:NM_000083:exon3:c.G352T:p.G118W 0.99 1. 0.98 1. 0.98 1. 0.9861 0.9959 0.9959 1 0.9828 0.9783 0.9879 0.9982 0.98 1. 0.97 0.99 1. rs10282312 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.976 0.254 P -3.055 0.000 N -2.92 0.918 D 11.6 0.000 N 0.396 0.455 -0.925 0.449 T 0.000 0.000 T . . . 2.401 0.350 18.83 0.919 0.206 0.188 0.202 N c -0.875 -0.517 1.000 0.480 0.497 0.185 0 4.99 0.658 6.183 0.717 0.149 0.237 1.000 0.715 0.998 0.697 9.970 0.407 Chloride channel\x2c core . . 0.9853 0.9965 0.9952 0.9799 1 0.9801 0.9766 0.9830 0.9981 0.9817 0.9955 0.9952 0.9833 1 0.9828 0.9714 0.9694 hom 5231.51 162 7 143017807 . G T 5231.51 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.711;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8498;MQ=59.73;MQ0=0;MQRankSum=-1.133;QD=32.29;ReadPosRankSum=-1.689;VQSLOD=7.6215;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,161:162:99:5231,400,0 7 143042837 143042837 C T exonic CLCN1 synonymous SNV CLCN1:NM_000083:exon17:c.C2154T:p.D718D 0.48 0.36 0.58 0.61 0.46 0.44 0.5397 0.4554 0.6667 0.6633 0.5599 0.5287 0.5058 0.4636 0.4 0.35 0.42 0.48 0.36 rs2272251 COSM452527 1(thyroid) Benign Myotonia_congenita RCV000283505.1 MedGen C0027127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4701 0.3716 0.5958 0.3618 0.6296 0.4425 0.4469 0.4516 0.4181 0.4424 0.3739 0.5897 0.32 0.6488 0.4604 0.4497 0.4473 het 363.29 19 7 143042837 . C T 363.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.132;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=-1.359;QD=19.12;ReadPosRankSum=0.307;VQSLOD=6.3488;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,13:19:99:393,0,136 7 143043240 143043240 C T exonic CLCN1 nonsynonymous SNV CLCN1:NM_000083:exon18:c.C2180T:p.P727L 0.37 0.42 0.29 0.28 0.41 0.41 0.3974 0.4206 0.2921 0.2615 0.3780 0.4245 0.4244 0.4245 0.42 0.42 0.43 0.39 0.39 rs13438232 COSM3737851 1(haematopoietic_and_lymphoid_tissue);1(soft_tissue);1(pancreas);1(thyroid);1(large_intestine) Benign|Benign Myotonia_congenita|not_specified RCV000343234.1|RCV000427667.1 MedGen|MedGen C0027127|CN169374 . . . . . . 0.103 0.301 T 0.546 0.361 P 0.122 0.308 B 0.165 0.175 N 0.003 0.433 P 0.975 0.246 L -1.93 0.849 D -1.13 0.291 N 0.084 0.117 -0.988 0.332 T 0.000 0.000 T . . . 1.856 0.284 15.32 0.891 0.179 0.228 0.217 N c -0.418 -0.423 1.000 0.747 0.598 0.340 0 3.45 0.384 0.291 0.186 0.002 0.136 0.001 0.137 0.064 0.173 4.005 0.090 . ENSG00000188037.6|ENSG00000188037.6 Lung|Whole_Blood 0.3903 0.4197 0.2957 0.5059 0.2580 0.3810 0.4176 0.4074 0.4206 0.3943 0.4122 0.3046 0.5333 0.2466 0.3769 0.4057 0.4012 het 1333.22 100 7 143043240 . C T 1333.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.686;DP=100;Dels=0.00;FS=3.820;HRun=2;HaplotypeScore=3.5286;MQ=59.63;MQ0=0;MQRankSum=0.583;QD=13.33;ReadPosRankSum=-0.100;VQSLOD=5.6432;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,50:100:99:1363,0,1257 7 143088823 143088823 T C exonic EPHA1 synonymous SNV EPHA1:NM_005232:exon17:c.A2742G:p.P914P 0.96 0.92 0.98 0.99 0.92 1. 0.9365 0.9157 0.9861 0.9963 0.8577 0.9189 0.9548 0.9847 0.92 0.92 0.93 0.94 0.92 rs1804527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9397 0.9183 0.9820 0.9684 0.9951 0.8589 0.9218 0.9460 0.9852 0.9094 0.9119 0.9761 0.9636 0.9975 0.8701 0.9037 0.8947 hom 2821.67 90 7 143088823 . T C 2821.67 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=31.35;VQSLOD=9.4500;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2855,238,0 7 143088867 143088867 T C exonic EPHA1 nonsynonymous SNV EPHA1:NM_005232:exon17:c.A2698G:p.M900V 0.96 0.92 0.98 1. 0.92 1. 0.9366 0.9157 0.9860 0.9988 0.8566 0.9189 0.9542 0.9847 0.92 0.92 0.93 0.94 0.92 rs6967117 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.017 0.279 N 1.000 0.090 P -2.19 0.001 N 0.14 0.609 T 1.46 0.008 N 0.056 0.039 -0.961 0.391 T 0.000 0.000 T . . . -1.001 0.032 0.016 0.655 0.076 0.075 0.133 N c -1.082 -0.830 1.000 0.747 0.632 0.406 0 3.78 0.425 2.684 0.464 0.069 0.176 1.000 0.715 0.948 0.423 8.653 0.330 Protein kinase-like domain ENSG00000159840.11|ENSG00000229153.1 Whole_Blood|Whole_Blood 0.9400 0.9183 0.9820 0.9685 0.9985 0.8591 0.9218 0.9462 0.9853 0.9095 0.9116 0.9749 0.9636 0.9994 0.8703 0.9040 0.8951 hom 2393.07 76 7 143088867 . T C 2393.07 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.4725;MQ=59.01;MQ0=0;QD=31.49;VQSLOD=9.5108;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2426,187,0 7 143093538 143093538 G A exonic EPHA1 synonymous SNV EPHA1:NM_005232:exon11:c.C1837T:p.L613L 0.86 0.75 0.89 1. 0.79 0.91 0.8244 0.7583 0.9193 0.9984 0.7487 0.7897 0.8400 0.8765 0.78 0.76 0.79 0.78 0.83 rs10952549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8291 0.7597 0.9126 0.8024 0.9979 0.7545 0.7919 0.8140 0.8777 0.7818 0.7617 0.9258 0.8046 0.9975 0.7507 0.7712 0.7449 hom 1504.33 47 7 143093538 . G A 1504.33 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=32.01;VQSLOD=9.8423;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1537,123,0 7 143097100 143097100 A G exonic EPHA1 nonsynonymous SNV EPHA1:NM_005232:exon4:c.T479C:p.V160A 0.94 0.87 0.97 0.99 0.92 0.99 0.9284 0.8644 0.9843 0.9914 0.8471 0.9157 0.9422 0.9784 0.9 0.87 0.92 0.94 0.86 rs4725617 COSM4161910;COSM4161909 1(thyroid) . . . . . . . . . . . 0.246 0.173 T 0.0 0.026 B 0.0 0.013 B 0.001 0.401 N 1 0.090 P -1.67 0.004 N 3.96 0.034 T 2.09 0.004 N 0.12 0.134 -0.982 0.346 T 0.000 0.000 T . . . -0.151 0.080 1.383 0.710 0.092 0.012 0.043 N c -1.126 -1.029 0.998 0.362 0.672 0.522 0 3.88 0.438 1.152 0.311 0.076 0.183 0.582 0.274 0.022 0.137 7.094 0.243 Ephrin receptor ligand binding domain|Galactose-binding domain-like ENSG00000146904.4|ENSG00000146904.4 Skin_Sun_Exposed_Lower_leg|Thyroid 0.9322 0.8617 0.9793 0.9678 0.9920 0.8482 0.9186 0.9409 0.9787 0.8909 0.8591 0.9737 0.9669 0.9926 0.8572 0.9005 0.8842 hom 1574.39 49 7 143097100 . A G 1574.39 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;QD=32.13;VQSLOD=9.6446;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1607,135,0 7 143141475 143141475 T C exonic TAS2R60 synonymous SNV TAS2R60:NM_177437:exon1:c.T930C:p.R310R 0.71 0.51 0.79 0.89 0.66 0.79 0.6964 0.5454 0.8621 0.8705 0.6554 0.6583 0.7048 0.7528 0.62 0.54 0.67 0.71 0.63 rs4595035 COSM3762454 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7050 0.5424 0.8417 0.5967 0.8706 0.6554 0.6654 0.7022 0.7510 0.6490 0.5502 0.8067 0.5933 0.8660 0.6663 0.6671 0.7100 het 2654.95 177 7 143141475 . T C 2654.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.078;DP=177;Dels=0.00;FS=3.795;HRun=1;HaplotypeScore=5.3868;MQ=59.71;MQ0=0;MQRankSum=0.089;QD=15.00;ReadPosRankSum=2.597;VQSLOD=3.9383;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,97:177:99:2685,0,2037 7 143657427 143657427 C T exonic OR2F1 nonsynonymous SNV OR2F1:NM_012369:exon1:c.C364T:p.R122C 0.11 0.091 0.17 0.16 0.071 0.1 0.1013 0.0839 0.2545 0.1694 0.1295 0.0627 0.1112 0.1139 0.07 0.084 0.063 0.076 0.066 rs2072164 COSM3762457 1(large_intestine) . . . . . . . . . . . 0.012 0.546 D 0.014 0.156 B 0.01 0.139 B 0.000 0.537 D 0.000 0.511 P 2.455 0.715 M -1.09 0.772 T -7.26 0.944 D 0.261 0.318 -0.866 0.508 T 0.002 0.006 T . . . 5.024 0.676 25.2 0.997 0.785 0.957 0.654 D c 0.098 0.191 0.002 0.088 0.487 0.133 0 4.53 0.548 1.367 0.336 0.935 0.490 0.982 0.353 1.000 0.888 12.137 0.531 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1081 0.0832 0.2462 0.0620 0.1705 0.1279 0.0602 0.1005 0.1106 0.0838 0.0864 0.2041 0.0497 0.1718 0.1166 0.0582 0.0988 het 2284.67 202 7 143657427 . C T 2284.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.389;DP=202;DS;Dels=0.00;FS=1.179;HRun=0;HaplotypeScore=1.8614;MQ=56.26;MQ0=0;MQRankSum=0.187;QD=11.31;ReadPosRankSum=2.127;VQSLOD=3.2574;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:123,79:202:99:2315,0,3238 7 143657801 143657801 A G exonic OR2F1 synonymous SNV OR2F1:NM_012369:exon1:c.A738G:p.T246T 0.46 0.67 0.41 0.57 0.32 0.22 0.3789 0.6123 0.4549 0.5737 0.3861 0.3322 0.3546 0.2634 0.42 0.61 0.33 0.46 0.25 rs2072166 COSM3762459 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3776 0.6154 0.4515 0.2568 0.5781 0.3792 0.3351 0.3713 0.2595 0.4234 0.6127 0.4293 0.2781 0.5707 0.3653 0.3188 0.3487 het 2010.39 169 7 143657801 . A G 2010.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.103;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4888;MQ=58.07;MQ0=0;MQRankSum=1.204;QD=11.90;ReadPosRankSum=0.834;VQSLOD=4.7029;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,75:169:99:2040,0,2637 7 143701516 143701516 C T exonic OR6B1 nonsynonymous SNV OR6B1:NM_001005281:exon1:c.C427T:p.R143C 0.16 0.076 0.37 0.24 0.088 0.13 0.1407 0.0729 0.4869 0.2436 0.1118 0.0881 0.1256 0.1112 0.086 0.071 0.093 0.17 0.033 rs7787378 COSM3762460 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.119 0.280 T 0.002 0.090 B 0.022 0.184 B 0.171 0.174 U 0.986 0.246 P 1.085 0.274 L 8.7 0.001 T -3.12 0.637 D 0.105 0.124 -0.877 0.501 T 0.000 0.000 T . . . 2.141 0.318 17.12 0.973 0.328 0.078 0.136 N c -0.466 -0.386 0.676 0.224 0.487 0.133 0 5.26 0.734 0.746 0.258 0.935 0.490 0.000 0.063 0.905 0.384 14.255 0.654 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1579 0.0759 0.4760 0.0845 0.2438 0.1118 0.0895 0.1481 0.1098 0.0999 0.0751 0.4127 0.0894 0.2376 0.1082 0.0796 0.1125 het 1935.27 125 7 143701516 . C T 1935.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.671;DP=125;Dels=0.00;FS=2.420;HRun=0;HaplotypeScore=2.8645;MQ=59.33;MQ0=0;MQRankSum=1.465;QD=15.48;ReadPosRankSum=0.731;VQSLOD=5.8090;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,68:125:99:1965,0,1541 7 143701884 143701884 C T exonic OR6B1 synonymous SNV OR6B1:NM_001005281:exon1:c.C795T:p.A265A 0.39 0.34 0.55 0.58 0.32 0.21 0.3828 0.3459 0.6814 0.5823 0.3420 0.3583 0.3456 0.2091 0.35 0.33 0.36 0.42 0.25 rs728275 COSM3762461 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3958 0.3501 0.6667 0.2781 0.5863 0.3528 0.3618 0.3916 0.2093 0.3550 0.3335 0.6169 0.2914 0.5668 0.3363 0.3371 0.3340 het 1888.72 155 7 143701884 . C T 1888.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.015;DP=155;Dels=0.00;FS=6.165;HRun=2;HaplotypeScore=2.9829;MQ=59.55;MQ0=0;MQRankSum=-1.363;QD=12.19;ReadPosRankSum=-1.129;VQSLOD=4.4830;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,69:155:99:1919,0,2448 7 144098992 144098992 G A exonic NOBOX synonymous SNV NOBOX:NM_001080413:exon3:c.C262T:p.L88L 0.71 0.65 0.63 0.83 0.58 0.84 0.6312 0.6490 0.6509 0.8233 0.5348 0.5660 0.6496 0.8075 0.6 0.66 0.57 0.65 . rs727714 COSM4161925;COSM4161924 1(pancreas);1(thyroid) Benign Premature_ovarian_failure RCV000385835.1 MedGen:SNOMED_CT C0085215:237788002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6321 0.6505 0.6523 0.6007 0.8228 0.5331 0.5713 0.5911 0.8028 0.6018 0.6363 0.6372 0.6275 0.8307 0.5373 0.5697 0.5984 hom 2027.71 68 7 144098992 . G A 2027.71 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=29.82;VQSLOD=9.0744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2061,157,0 7 147092861 147092861 G A exonic CNTNAP2 synonymous SNV CNTNAP2:NM_014141:exon10:c.G1659A:p.A553A 0.094 0.02 0.16 0.006 0.22 0.11 0.1875 0.0494 0.2077 0.0030 0.2474 0.2369 0.2004 0.1329 0.17 0.056 0.23 0.087 0.23 rs34592169 COSM3762462 1(large_intestine) other|Benign|Benign not_specified|Cortical_dysplasia-focal_epilepsy_syndrome|Pitt-Hopkins-like_syndrome RCV000081587.8|RCV000332935.1|RCV000389811.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C1864887:610042:ORPHA163681|CN239445:ORPHA221150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1908 0.0485 0.2022 0.1728 0.0032 0.2561 0.2407 0.1999 0.1314 0.1717 0.0534 0.1859 0.1556 0.0031 0.2712 0.2330 0.2035 het 1191.49 102 7 147092861 . G A 1191.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.629;DP=102;Dels=0.00;FS=2.787;HRun=1;HaplotypeScore=1.9138;MQ=58.63;MQ0=0;MQRankSum=0.365;QD=11.68;ReadPosRankSum=-2.567;VQSLOD=4.8164;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,46:102:99:1221,0,1364 7 148801091 148801091 G A exonic ZNF425 synonymous SNV ZNF425:NM_001001661:exon4:c.C1872T:p.N624N 0.66 0.35 0.69 0.91 0.62 0.84 0.6831 0.4007 0.7818 0.9050 0.7208 0.6438 0.6531 0.8209 0.57 0.42 0.64 0.63 0.69 rs11525060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6940 0.4017 0.7670 0.6911 0.9053 0.7185 0.6404 0.6721 0.8228 0.6102 0.4125 0.7236 0.6755 0.8922 0.7297 0.6538 0.6929 het 2815.86 232 7 148801091 . G A 2815.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.845;DP=232;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3683;MQ=58.92;MQ0=0;MQRankSum=0.510;QD=12.14;ReadPosRankSum=-0.295;VQSLOD=6.1080;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,108:232:99:2846,0,3557 7 148801337 148801337 T C exonic ZNF425 synonymous SNV ZNF425:NM_001001661:exon4:c.A1626G:p.T542T 0.21 0.38 0.17 0.092 0.22 0.13 0.1857 0.3632 0.1415 0.0955 0.1635 0.1937 0.2029 0.1304 0.25 0.35 0.19 0.17 0.17 rs12704061 COSM4004364 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1776 0.3613 0.1495 0.1464 0.0945 0.1572 0.1947 0.1836 0.1263 0.2237 0.3551 0.1838 0.1192 0.1075 0.1629 0.1816 0.1738 het 1273.73 91 7 148801337 . T C 1273.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.332;DP=91;Dels=0.00;FS=10.621;HRun=1;HaplotypeScore=0.9987;MQ=59.59;MQ0=0;MQRankSum=0.449;QD=14.00;ReadPosRankSum=0.115;VQSLOD=4.4652;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,48:91:99:1304,0,1328 7 148801658 148801658 C T exonic ZNF425 synonymous SNV ZNF425:NM_001001661:exon4:c.G1305A:p.Q435Q 0.6 0.15 0.66 0.91 0.62 0.84 0.6672 0.2255 0.7705 0.9052 0.7209 0.6431 0.6430 0.8199 0.5 0.23 0.64 0.53 0.67 rs1137432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6795 0.2163 0.7559 0.6850 0.9058 0.7180 0.6386 0.6620 0.8209 0.5563 0.2275 0.7057 0.6722 0.8941 0.7288 0.6522 0.6796 het 1627.69 103 7 148801658 . C T 1627.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.797;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5544;MQ=59.55;MQ0=0;MQRankSum=0.237;QD=15.80;ReadPosRankSum=0.110;VQSLOD=5.1106;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:44,59:103:99:1658,0,1213 7 148851213 148851213 G A exonic ZNF398 synonymous SNV ZNF398:NM_170686:exon2:c.G201A:p.L67L 0.71 0.39 0.76 0.95 0.7 0.85 0.7417 0.4481 0.8265 0.9546 0.7692 0.7203 0.7312 0.8320 0.63 0.45 0.72 0.69 0.74 rs917124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7503 0.4427 0.8149 0.7567 0.9523 0.7679 0.7152 0.7430 0.8336 0.6663 0.4517 0.7931 0.72 0.9461 0.7801 0.7210 0.7424 het 1457.45 94 7 148851213 . G A 1457.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.512;DP=94;Dels=0.00;FS=11.844;HRun=0;HaplotypeScore=5.3178;MQ=59.36;MQ0=0;MQRankSum=1.944;QD=15.50;ReadPosRankSum=-0.042;VQSLOD=3.7839;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,50:94:99:1487,0,1273 7 149151323 149151323 A G exonic ZNF777 synonymous SNV ZNF777:NM_015694:exon3:c.T852C:p.P284P 0.0002 . . . 0.001 . 0.0002 9.839e-05 0 0 0 0.0003 0 0 0.0008 . 0.0012 . . rs184833876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 2.978e-05 0 0 0 0.0004 0 0 0.0004 0.0005 0 0 0 0 0.0006 0 het 2148.59 149 7 149151323 . A G 2148.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DP=149;Dels=0.00;FS=1.498;HRun=3;HaplotypeScore=2.4968;MQ=59.85;MQ0=0;MQRankSum=0.791;QD=14.42;ReadPosRankSum=0.541;VQSLOD=4.7595;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,78:149:99:2179,0,1952 7 149426305 149426305 - C exonic KRBA1 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 0.9999 1 1.0000 1 1 1. 1. 1. 0.065 . rs398006750 COSM5021181 1(bone);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 0.9999 1 0.9999 1 1 0.9999 0.9999 1 1 1 1 0.9999 1 hom 956.03 25 7 149426305 . G GC 956.03 Mask AC=2;AF=1.00;AN=2;DP=25;FS=0.000;HRun=2;HaplotypeScore=72.7088;MQ=60.38;MQ0=0;QD=38.24;set=variant2 GT:AD:DP:GQ:PL 1/1:1,24:25:72.23:998,72,0 7 149503917 149503920 GATA - exonic SSPO frameshift deletion SSPO:NM_198455:exon59:c.8745delG:p.I2916fs*0 0.28 0.48 0.23 0.19 0.16 0.24 0.2765 0.4831 0.3385 0.2680 0.2841 0.2401 0.2745 0.2471 0.24 0.4 0.16 . . rs72359812 COSN20104962;COSN228323;COSN20104961;COSN15663287;COSN160689 1(ovary);3(central_nervous_system);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1926 0.4271 0.2381 0.2025 0.1725 0.1459 0.1586 0.1939 0.1994 0.2329 0.4176 0.2428 0.1887 0.1654 0.1446 0.1583 0.1670 het 200.64 12 7 149503916 . GGATA G 200.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DP=12;FS=0.000;HRun=0;HaplotypeScore=59.0828;MQ=58.98;MQ0=0;MQRankSum=0.143;QD=16.72;ReadPosRankSum=0.466;set=variant2 GT:AD:DP:GQ:PL 0/1:7,5:12:99:240,0,438 7 149506211 149506211 - C exonic SSPO frameshift insertion SSPO:NM_198455:exon63:c.9204dupC:p.R3069Pfs*47 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 1 1 1.0000 1 1 1. 1. 1. 0.098 . rs71194663 COSN20104967;COSN20104968;COSN20104966;COSN20104965;COSN20104964;COSN15648437;COSN15648439;COSN15648444;COSN15648445;COSN15648443;COSN15648450;COSN20104963;COSN15648434;COSN15648436;COSN15648435;COSN15648442;COSN15648431;COSN15648430;COSN15648438;COSN15648446;COSN15648432;COSN15648441;COSN15648429;COSN15648448;COSN15648447;COSN15648433;COSN15648451;COSN15648449;COSN1084238;COSN15648440 23(upper_aerodigestive_tract);6(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 0.9999 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 720.93 17 7 149506211 . G GC 720.93 Mask AC=2;AF=1.00;AN=2;DP=17;FS=0.000;HRun=1;HaplotypeScore=37.7854;MQ=60.00;MQ0=0;QD=42.41;set=variant2 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:763,51,0 7 149511985 149511985 A G exonic SSPO nonsynonymous SNV SSPO:NM_198455:exon74:c.A10535G:p.N3512S 0.87 1. 0.82 0.72 0.82 0.94 0.8620 0.9707 0.7707 0.7277 0.8515 0.8387 0.8792 0.9329 0.88 0.97 0.84 0.89 . rs10952230 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.041 0.021 . . . . . . . . . 1.409 0.232 12.84 0.729 0.098 0.020 0.060 N n 0.728 1.462 0.108 0.166 0.056 0.006 0 -0.082 0.130 -0.325 0.080 0.076 0.183 0.000 0.063 0.066 0.174 8.792 0.338 . . . 0.8368 0.9702 0.7507 0.8984 0.7023 0.8529 0.8291 0.8355 0.9313 0.8677 0.9692 0.7542 0.92 0.7179 0.8393 0.8388 0.8371 hom 274.76 10 7 149511985 . A G 274.76 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.48;VQSLOD=13.1856;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:308,24,0 7 149513077 149513077 G C exonic SSPO synonymous SNV SSPO:NM_198455:exon77:c.G10980C:p.S3660S 0.11 0.015 0.13 0.24 0.14 0.082 0.2146 0.0482 0.2677 0.3717 0.2659 0.2316 0.2798 0.1648 0.1 0.026 0.14 0.076 . rs2240362 COSN23012935;COSN23012934 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1355 0.0281 0.1274 0.1245 0.2681 0.1171 0.1476 0.1435 0.0992 0.1225 0.0292 0.1220 0.1291 0.2642 0.1218 0.1599 0.1499 het 151.24 16 7 149513077 . G C 151.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.573;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;MQRankSum=0.597;QD=9.45;ReadPosRankSum=-0.380;VQSLOD=5.8921;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,6:16:99:181,0,212 7 149513152 149513152 C T exonic SSPO synonymous SNV SSPO:NM_198455:exon77:c.C11055T:p.R3685R 0.21 0.27 0.22 0.17 0.16 0.22 0.2356 0.2873 0.3204 0.2290 0.3476 0.2276 0.2083 0.2222 0.17 0.2 0.16 0.11 . rs7791767 COSN23012936;COSN23012937 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1876 0.2418 0.2183 0.1650 0.1507 0.1810 0.1745 0.1869 0.1992 0.1867 0.2315 0.2309 0.1623 0.1425 0.1775 0.1675 0.1585 het 61.94 10 7 149513152 . C T 61.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.450;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.336;QD=6.19;ReadPosRankSum=-1.453;VQSLOD=9.4454;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:91.94:92,0,170 7 149515103 149515103 C T exonic SSPO synonymous SNV SSPO:NM_198455:exon80:c.C11493T:p.G3831G 0.2 0.25 0.2 0.17 0.16 0.22 0.1929 0.2437 0.2339 0.1643 0.1903 0.1765 0.1854 0.2161 0.18 0.2 0.17 0.13 . rs10250401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1844 0.2299 0.2177 0.1518 0.1534 0.1818 0.1714 0.1758 0.2032 0.1821 0.2168 0.2267 0.1490 0.1448 0.1773 0.1669 0.1558 het 146.24 26 7 149515103 . C T 146.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.692;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8184;MQ=58.20;MQ0=0;MQRankSum=-0.734;QD=5.62;ReadPosRankSum=-0.462;VQSLOD=3.0530;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,13:26:99:176,0,307 7 149515754 149515754 A G exonic SSPO synonymous SNV SSPO:NM_198455:exon83:c.A11655G:p.P3885P 0.49 0.86 0.39 0.42 0.3 0.33 0.3742 0.7889 0.3844 0.4293 0.2827 0.3231 0.3721 0.3404 0.46 0.74 0.32 0.54 . rs740113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3682 0.7933 0.3874 0.3196 0.4278 0.2797 0.3258 0.3628 0.3326 0.4559 0.7726 0.4021 0.3212 0.4148 0.2838 0.3295 0.3361 hom 1355.42 46 7 149515754 . A G 1355.42 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9648;MQ=56.92;MQ0=0;QD=29.47;VQSLOD=4.7028;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1388,114,0 7 149515775 149515775 C G exonic SSPO nonsynonymous SNV SSPO:NM_198455:exon83:c.C11676G:p.C3892W 0.2 0.25 0.2 0.17 0.15 0.22 0.1829 0.2272 0.2246 0.1571 0.1642 0.1683 0.1651 0.2078 0.18 0.2 0.17 0.12 . rs1557955 . . . . . . . . . . . . . . . . 1.0 0.899 D 0.996 0.832 D . . . . . . . . . . . . . . . 0.497 0.543 . . . . . . . . . 0.889 0.179 10.01 0.702 0.089 0.932 0.573 D n 1.275 1.553 0.002 0.086 0.057 0.007 0 2.12 0.262 0.755 0.259 0.024 0.147 0.999 0.424 0.538 0.277 6.632 0.219 . ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7 Artery_Aorta|Liver|Pancreas|Stomach|Testis 0.1814 0.2204 0.2158 0.1509 0.1520 0.1696 0.1697 0.1709 0.2017 0.1807 0.2148 0.2279 0.1490 0.1450 0.1699 0.1668 0.1554 het 456.47 42 7 149515775 . C G 456.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DP=42;Dels=0.00;FS=4.581;HRun=1;HaplotypeScore=0.9578;MQ=57.20;MQ0=0;MQRankSum=2.434;QD=10.87;ReadPosRankSum=0.102;VQSLOD=3.2475;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,17:42:99:486,0,654 7 149515796 149515796 C T exonic SSPO synonymous SNV SSPO:NM_198455:exon83:c.C11697T:p.P3899P 0.2 0.25 0.19 0.17 0.15 0.22 0.1828 0.2268 0.2255 0.1580 0.1632 0.1681 0.1658 0.2076 0.18 0.2 0.17 0.076 . rs1557956 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1810 0.2194 0.2155 0.1512 0.1524 0.1698 0.1691 0.1706 0.2010 0.1802 0.2142 0.2267 0.1490 0.1465 0.1699 0.1662 0.1550 het 263.27 26 7 149515796 . C T 263.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.398;DP=26;Dels=0.00;FS=9.638;HRun=0;HaplotypeScore=0.9734;MQ=59.11;MQ0=0;MQRankSum=-0.395;QD=10.13;ReadPosRankSum=-0.606;VQSLOD=3.8500;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,10:26:99:293,0,447 7 149516486 149516486 A G exonic SSPO synonymous SNV SSPO:NM_198455:exon84:c.A11889G:p.G3963G 0.49 0.86 0.39 0.42 0.31 0.33 0.3917 0.7961 0.3970 0.4313 0.3351 0.3400 0.3992 0.3596 0.46 0.74 0.33 0.41 . rs6464034 COSN23012946 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3730 0.7950 0.3899 0.3249 0.4249 0.3028 0.3319 0.3710 0.3338 0.4650 0.7735 0.4007 0.3245 0.4107 0.3025 0.3437 0.3490 hom 859.84 27 7 149516486 . A G 859.84 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.85;VQSLOD=13.1880;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:72.22:893,72,0 7 149517978 149517978 G T exonic SSPO nonsynonymous SNV SSPO:NM_198455:exon87:c.G12321T:p.Q4107H 0.15 0.13 0.14 0.24 0.14 0.082 0.1472 0.1494 0.1246 0.2621 0.1365 0.1462 0.1708 0.1058 0.14 0.13 0.14 0.2 . rs12536873 COSN231373;COSN23012950;COSN23012948;COSN23012949 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . 0.999 0.764 D 0.998 0.875 D . . . . . . . . . . . . . . . 0.215 0.264 . . . . . . . . . 0.570 0.148 7.945 0.715 0.093 0.833 0.421 D n 1.341 1.458 0.011 0.122 0.068 0.012 2 2.19 0.268 1.243 0.322 0.953 0.551 1.000 0.715 0.803 0.337 4.295 0.103 Trypsin Inhibitor-like\x2c cysteine rich domain ENSG00000106479.6 Cells_Transformed_fibroblasts 0.1428 0.1453 0.1323 0.1337 0.2666 0.1170 0.1439 0.1507 0.0994 0.1559 0.1516 0.1376 0.1325 0.2608 0.1199 0.1574 0.1503 het 393.46 30 7 149517978 . G T 393.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.263;DP=30;Dels=0.00;FS=3.568;HRun=0;HaplotypeScore=0.9734;MQ=60.00;MQ0=0;MQRankSum=2.058;QD=13.12;ReadPosRankSum=-1.185;VQSLOD=5.2110;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,16:30:99:423,0,430 7 149518961 149518961 T C exonic SSPO synonymous SNV SSPO:NM_198455:exon90:c.T12765C:p.A4255A 0.46 0.75 0.38 0.43 0.31 0.33 0.4660 0.7313 0.5117 0.5368 0.4958 0.4352 0.4590 0.3716 0.44 0.67 0.33 0.51 . rs1008335 COSN20087884;COSN2380980;COSN19672211;COSN23012952 1(breast);1(prostate);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3650 0.7041 0.3812 0.3434 0.4258 0.3144 0.3289 0.3706 0.3308 0.4444 0.6910 0.3950 0.3444 0.4124 0.3184 0.3449 0.3446 hom 656.98 20 7 149518961 . T C 656.98 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=32.85;VQSLOD=9.2975;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:690,54,0 7 149519184 149519184 C T exonic SSPO nonsynonymous SNV SSPO:NM_198455:exon90:c.C12988T:p.R4330C 0.18 0.16 0.2 0.17 0.16 0.22 0.1840 0.1687 0.2203 0.1580 0.1919 0.1732 0.1829 0.2253 0.16 0.15 0.17 0.11 . rs1008336 COSN20087879;COSN19642240;COSN8872087;COSN23012953 1(breast);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . 1.0 0.899 D 0.999 0.916 D . . . . . . . . . . . . . . . 0.445 0.499 . . . . . . . . . 0.925 0.182 10.23 0.758 0.109 0.401 0.261 N n 1.402 1.672 0.997 0.355 0.075 0.013 0 3.57 0.399 0.169 0.163 0.852 0.362 0.000 0.063 0.983 0.502 9.922 0.404 . ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7 Artery_Aorta|Liver|Pancreas|Stomach|Testis 0.1795 0.1582 0.2095 0.1568 0.1516 0.1928 0.1710 0.1701 0.2032 0.1672 0.1558 0.2208 0.1589 0.1438 0.1942 0.1681 0.1538 het 418.56 40 7 149519184 . C T 418.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.587;DP=40;Dels=0.00;FS=3.410;HRun=1;HaplotypeScore=0.9995;MQ=58.48;MQ0=0;MQRankSum=0.739;QD=10.46;ReadPosRankSum=-1.204;VQSLOD=4.8949;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,17:40:99:449,0,626 7 149521183 149521183 G A exonic SSPO nonsynonymous SNV SSPO:NM_198455:exon94:c.G13523A:p.R4508Q 0.15 0.054 0.19 0.17 0.16 0.22 0.2053 0.0861 0.2653 0.1946 0.2284 0.2011 0.2041 0.2401 0.13 0.064 0.17 0.087 . rs4389841 COSN8872088 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.013 0.154 B 0.002 0.063 B . . . . . . . . . . . . . . . 0.16 0.192 . . . . . . . . . 0.879 0.178 9.940 0.746 0.104 0.004 0.021 N n 0.263 1.316 0.977 0.297 0.081 0.017 0 -7.98 0.010 -2.158 0.014 -0.373 0.066 0.000 0.063 0.018 0.130 14.197 0.651 . ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7 Artery_Aorta|Liver|Pancreas|Stomach|Testis 0.1716 0.0635 0.2067 0.1565 0.1507 0.1927 0.1683 0.1686 0.1989 0.1424 0.0688 0.2208 0.1589 0.1426 0.1942 0.1679 0.1520 het 440.70 28 7 149521183 . G A 440.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.983;DP=28;Dels=0.00;FS=1.515;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.887;QD=15.74;ReadPosRankSum=0.455;VQSLOD=5.4445;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,18:28:99:471,0,259 7 149521544 149521544 C T exonic SSPO synonymous SNV SSPO:NM_198455:exon95:c.C13623T:p.S4541S 0.16 0.11 0.19 0.17 0.16 0.22 0.1845 0.1314 0.2272 0.1631 0.2135 0.1769 0.1840 0.2130 0.15 0.11 0.17 0.098 . rs12673475 COSN23012957;COSN23012956 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1765 0.1200 0.2103 0.1572 0.1526 0.1882 0.1708 0.1705 0.2027 0.1560 0.1170 0.2208 0.1589 0.1411 0.1940 0.1676 0.1564 het 425.14 33 7 149521544 . C T 425.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.387;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.59;MQ0=0;MQRankSum=-0.162;QD=12.88;ReadPosRankSum=-0.774;VQSLOD=5.5606;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,16:33:99:455,0,489 7 149522162 149522162 G T exonic SSPO nonsynonymous SNV SSPO:NM_198455:exon96:c.G13949T:p.C4650F 0.17 0.12 0.19 0.17 0.16 0.22 0.1855 0.1468 0.2275 0.1656 0.2030 0.1765 0.1841 0.2163 0.15 0.12 0.17 0.098 . rs62617122 COSM4998045 1(pancreas) . . . . . . . . . . . . . . 1.0 0.899 D 0.999 0.916 D . . . . . . . . . . . . . . . 0.613 0.635 . . . . . . . . . 0.418 0.134 6.771 0.707 0.091 0.952 0.635 D n 1.224 1.280 1.000 0.747 0.056 0.006 0 4.41 0.524 8.074 0.892 0.949 0.536 1.000 0.715 0.030 0.147 15.803 0.781 . ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7 Artery_Aorta|Liver|Stomach|Testis 0.1754 0.1300 0.2068 0.1564 0.1504 0.1910 0.1681 0.1713 0.1993 0.1594 0.1288 0.2220 0.1589 0.1449 0.1943 0.1676 0.1534 het 301.60 20 7 149522162 . G T 301.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.289;DP=20;Dels=0.00;FS=2.058;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.041;QD=15.08;ReadPosRankSum=-0.867;VQSLOD=6.0994;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,11:20:99:332,0,191 7 149523277 149523277 A G exonic SSPO nonsynonymous SNV SSPO:NM_198455:exon101:c.A14360G:p.H4787R 0.45 0.7 0.37 0.43 0.31 0.33 0.3698 0.6695 0.3787 0.4322 0.3054 0.3273 0.3917 0.3475 0.43 0.64 0.33 0.51 . rs1004200 . . . . . . . . . . . . . . . . 0.006 0.126 B 0.005 0.104 B . . . . . . . . . . . . . . . 0.061 0.045 . . . . . . . . . 0.348 0.128 6.150 0.735 0.100 0.126 0.172 N n 0.464 1.045 0.001 0.079 0.056 0.006 0 1.62 0.227 -0.114 0.106 1.176 0.903 0.000 0.063 0.045 0.161 8.314 0.311 . ENSG00000106479.6|ENSG00000197558.7|ENSG00000197558.7 Adipose_Subcutaneous|Liver|Testis 0.3619 0.6719 0.3814 0.3383 0.4303 0.3058 0.3269 0.3665 0.3216 0.4320 0.6612 0.3969 0.3411 0.4145 0.3097 0.3386 0.3398 hom 1491.84 48 7 149523277 . A G 1491.84 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.52;MQ0=0;QD=31.08;VQSLOD=8.5817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1525,126,0 7 149523584 149523584 C T exonic SSPO nonsynonymous SNV SSPO:NM_198455:exon102:c.C14495T:p.P4832L 0.13 0.064 0.13 0.24 0.14 0.094 0.1456 0.0928 0.1253 0.2735 0.1270 0.1476 0.1719 0.1160 0.12 0.078 0.14 0.17 . rs62492839 COSM3762476 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . 1.0 0.899 D 0.999 0.916 D . . . . . . . . . . . . . . . 0.195 0.239 . . . . . . . . . 0.604 0.152 8.187 0.448 0.034 0.771 0.376 D n 1.036 1.144 0.518 0.211 0.056 0.006 0 3.65 0.408 2.550 0.452 0.867 0.377 0.967 0.338 0.010 0.111 11.237 0.480 Trypsin Inhibitor-like\x2c cysteine rich domain ENSG00000106479.6 Cells_Transformed_fibroblasts 0.1359 0.0823 0.1246 0.1270 0.2669 0.1101 0.1396 0.1438 0.1049 0.1358 0.0900 0.1229 0.1291 0.2590 0.1145 0.1542 0.1462 het 353.48 30 7 149523584 . C T 353.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.951;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.636;QD=11.78;ReadPosRankSum=1.820;VQSLOD=10.7701;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,16:30:99:383,0,329 7 149524913 149524913 G A exonic SSPO nonsynonymous SNV SSPO:NM_198455:exon105:c.G14821A:p.E4941K 0.047 0.013 0.098 . 0.13 0.02 0.0984 0.0251 0.0941 0 0.1254 0.1353 0.1181 0.0354 0.097 0.021 0.13 0.054 . rs12534509 COSN23012960 1(large_intestine) . . . . . . . . . . . . . . 0.251 0.295 B 0.012 0.149 B . . . . . . . . . . . . . . . 0.193 0.236 . . . . . . . . . 1.431 0.235 12.95 0.847 0.149 0.932 0.574 D n 1.579 1.296 1.000 0.747 0.068 0.012 2 4.43 0.528 6.133 0.712 1.029 0.652 1.000 0.715 0.229 0.223 15.813 0.783 Trypsin Inhibitor-like\x2c cysteine rich domain ENSG00000106479.6 Cells_Transformed_fibroblasts 0.0966 0.0230 0.0958 0.1251 0.0001 0.1067 0.1333 0.1202 0.0345 0.0961 0.0230 0.0979 0.1258 0 0.1094 0.1439 0.1184 het 462.24 34 7 149524913 . G A 462.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.100;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.32;MQ0=0;MQRankSum=-0.930;QD=13.60;ReadPosRankSum=-1.206;VQSLOD=6.3674;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,17:34:99:492,0,397 7 149528262 149528262 C T exonic SSPO stopgain SSPO:NM_198455:exon108:c.C15178T:p.R5060X 0.19 0.19 0.19 0.17 0.15 0.22 0.1828 0.2061 0.2283 0.1628 0.1884 0.1658 0.1817 0.2141 0.17 0.2 0.16 0.14 . rs10261977 COSN17131861 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.008 0.191 10.71 0.765 0.111 0.489 0.281 N n 1.108 0.832 0.047 0.147 0.116 0.024 0 3.3 0.368 0.873 0.275 -0.035 0.126 0.668 0.281 0.219 0.221 12.018 0.524 Cystine knot\x2c C-terminal ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7|ENSG00000197558.7 Artery_Aorta|Brain_Putamen_basal_ganglia|Liver|Pancreas|Stomach|Testis 0.1757 0.1926 0.2124 0.1542 0.1508 0.1767 0.1616 0.1686 0.1994 0.1724 0.1920 0.2273 0.1544 0.1405 0.1777 0.1616 0.1550 het 216.96 25 7 149528262 . C T 216.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.123;DP=25;Dels=0.00;FS=1.734;HRun=2;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=0.764;QD=8.68;ReadPosRankSum=-0.934;VQSLOD=6.1988;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,9:25:99:247,0,468 7 149556518 149556518 C T exonic ZNF862 synonymous SNV ZNF862:NM_001099220:exon6:c.C1125T:p.A375A 0.53 0.8 0.45 0.33 0.58 0.37 0.5705 0.7807 0.5 0.4049 0.5027 0.6166 0.5448 0.4176 0.66 0.78 0.6 0.59 . rs4725833 COSM5619112 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5091 0.7660 0.4045 0.5498 0.2982 0.4818 0.5827 0.5313 0.3966 0.6075 0.7713 0.4427 0.5633 0.3205 0.4914 0.5871 0.5041 het 124.37 19 7 149556518 . C T 124.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=58.78;MQ0=0;MQRankSum=0.609;QD=6.55;ReadPosRankSum=1.358;VQSLOD=5.5088;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:154,0,327 7 149558409 149558409 G C exonic ZNF862 synonymous SNV ZNF862:NM_001099220:exon7:c.G2160C:p.L720L 0.38 0.24 0.47 0.33 0.59 0.35 0.5024 0.3028 0.5185 0.3131 0.5054 0.5860 0.4966 0.3684 0.51 0.34 0.6 0.43 . rs2240361 COSM5619389 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5085 0.2919 0.5263 0.5724 0.3119 0.5134 0.5933 0.5359 0.3710 0.4820 0.3032 0.5251 0.5662 0.3131 0.5172 0.5912 0.4980 het 596.28 52 7 149558409 . G C 596.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.816;DP=52;Dels=0.00;FS=2.552;HRun=2;HaplotypeScore=0.9958;MQ=60.00;MQ0=0;MQRankSum=0.746;QD=11.47;ReadPosRankSum=-2.126;VQSLOD=5.0038;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,21:52:99:626,0,915 7 149559273 149559273 C T exonic ZNF862 synonymous SNV ZNF862:NM_001099220:exon7:c.C3024T:p.L1008L 0.37 0.24 0.46 0.33 0.57 0.33 0.4900 0.2921 0.5099 0.3130 0.4799 0.5738 0.4877 0.3514 0.48 0.29 0.58 0.42 . rs2074700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4965 0.2894 0.5172 0.5490 0.3110 0.4866 0.5823 0.5252 0.3556 0.4717 0.3008 0.5144 0.5497 0.3158 0.4954 0.5776 0.4837 het 1544.69 102 7 149559273 . C T 1544.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.019;DP=102;Dels=0.00;FS=3.102;HRun=1;HaplotypeScore=3.1988;MQ=59.55;MQ0=0;MQRankSum=-0.591;QD=15.14;ReadPosRankSum=1.185;VQSLOD=5.5340;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,56:102:99:1575,0,1264 7 149559465 149559465 C T exonic ZNF862 synonymous SNV ZNF862:NM_001099220:exon7:c.C3216T:p.G1072G 0.44 0.47 0.49 0.33 0.57 0.33 0.5093 0.4991 0.5197 0.3167 0.4830 0.5738 0.5184 0.3577 0.56 0.51 0.59 0.53 . rs2074701 COSM452588 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5108 0.4929 0.5276 0.5514 0.3115 0.4861 0.5820 0.5403 0.3586 0.5299 0.5047 0.5286 0.5530 0.3120 0.4948 0.5779 0.4980 het 450.30 38 7 149559465 . C T 450.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.264;DP=38;Dels=0.00;FS=2.966;HRun=0;HaplotypeScore=0.0000;MQ=57.89;MQ0=0;MQRankSum=-0.117;QD=11.85;ReadPosRankSum=-0.881;VQSLOD=4.7243;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,17:38:99:480,0,499 7 150093701 150093701 A C exonic ZNF775 synonymous SNV ZNF775:NM_173680:exon3:c.A132C:p.I44I 0.84 0.84 0.89 0.78 0.89 0.8 0.8742 0.8590 0.8559 0.7965 0.8800 0.9128 0.8714 0.7842 0.91 0.88 0.92 0.85 0.75 rs940453 COSM329643 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8715 0.8553 0.8562 0.8388 0.7909 0.8815 0.9198 0.8701 0.7764 0.8872 0.8551 0.8616 0.8510 0.7949 0.8720 0.9214 0.8904 het 53.04 11 7 150093701 . A C 53.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.715;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.715;QD=4.82;ReadPosRankSum=0.382;VQSLOD=9.2080;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,3:11:83.03:83,0,184 7 150094853 150094853 G A exonic ZNF775 synonymous SNV ZNF775:NM_173680:exon3:c.G1284A:p.T428T 0.46 0.55 0.57 0.31 0.46 0.41 0.4733 0.6044 0.6149 0.3493 0.5435 0.4967 0.4444 0.4235 0.46 0.48 0.44 0.21 0.074 rs7780011 COSM452592 5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4576 0.5599 0.5197 0.3513 0.3282 0.5110 0.4757 0.4625 0.4006 0.4788 0.5212 0.5074 0.3435 0.3296 0.5046 0.4670 0.4626 het 258.65 12 7 150094853 . G A 258.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.479;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=-1.294;QD=21.55;ReadPosRankSum=0.185;VQSLOD=5.2346;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,9:12:64.16:289,0,64 7 150163837 150163837 A G exonic GIMAP8 synonymous SNV GIMAP8:NM_175571:exon2:c.A51G:p.G17G 0.32 0.31 0.23 0.42 0.37 0.25 0.3277 0.3136 0.2608 0.4242 0.2877 0.3486 0.3293 0.2645 0.34 0.32 0.35 0.32 0.34 rs2140595 COSM4004369 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3276 0.3174 0.2687 0.3998 0.4274 0.2967 0.3498 0.3125 0.2627 0.3252 0.3146 0.2482 0.4139 0.4189 0.2984 0.3310 0.3080 het 1089.41 93 7 150163837 . A G 1089.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.188;DP=93;Dels=0.00;FS=4.709;HRun=3;HaplotypeScore=1.8273;MQ=58.95;MQ0=0;MQRankSum=0.243;QD=11.71;ReadPosRankSum=0.675;VQSLOD=6.0035;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,42:93:99:1119,0,1455 7 150171710 150171710 T C exonic GIMAP8 synonymous SNV GIMAP8:NM_175571:exon4:c.T1293C:p.C431C 0.26 0.11 0.22 0.42 0.37 0.21 0.3117 0.1460 0.2537 0.4238 0.2878 0.3492 0.3268 0.2474 0.29 0.16 0.35 0.26 0.28 rs60114833 COSM4004370 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3135 0.1454 0.2653 0.3985 0.4286 0.2991 0.3505 0.3079 0.2301 0.2771 0.1468 0.2399 0.4139 0.4183 0.2993 0.3302 0.3033 het 940.68 93 7 150171710 . T C 940.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.949;DP=93;Dels=0.00;FS=2.446;HRun=0;HaplotypeScore=6.9665;MQ=58.88;MQ0=0;MQRankSum=-0.282;QD=10.11;ReadPosRankSum=-0.476;VQSLOD=4.3328;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,41:93:99:971,0,1430 7 150269542 150269542 G T exonic GIMAP4 nonsynonymous SNV GIMAP4:NM_018326:exon3:c.G384T:p.E128D 0.14 0.073 0.14 0.22 0.16 0.12 0.1469 0.0819 0.1317 0.2158 0.1800 0.1553 0.1291 0.1160 0.13 0.079 0.16 0.13 0.082 rs2293172 . . . . . . . . . . . . . 0.408 0.107 T 0.039 0.197 B 0.014 0.179 B 0.019 0.015 N 1 0.090 P 1.395 0.354 L 0.02 0.623 T -1.4 0.450 N 0.039 0.092 -1.108 0.032 T 0.000 0.000 T . . . 0.535 0.145 7.695 0.944 0.242 0.061 0.119 N c -0.745 -0.695 0.996 0.346 0.722 0.854 0 2.86 0.323 -1.377 0.026 1.048 0.713 0.000 0.063 0.218 0.221 7.459 0.263 AIG1-type guanine nucleotide-binding (G) domain|P-loop containing nucleoside triphosphate hydrolase . . 0.1475 0.0809 0.1333 0.1022 0.2101 0.1798 0.1577 0.1524 0.1139 0.1431 0.0797 0.1400 0.1159 0.2068 0.1860 0.1629 0.1578 het 1492.90 100 7 150269542 . G T 1492.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.102;DP=100;Dels=0.00;FS=7.940;HRun=0;HaplotypeScore=4.9828;MQ=58.45;MQ0=0;MQRankSum=-0.811;QD=14.93;ReadPosRankSum=0.284;VQSLOD=4.3019;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,55:100:99:1523,0,1326 7 150389678 150389678 T C exonic GIMAP2 nonsynonymous SNV GIMAP2:NM_015660:exon3:c.T304C:p.S102P . . . . . . 2.474e-05 0 0 0 0 4.501e-05 0 0 0.0001 . 0.0001 . . rs368046535 COSM4620494 1(large_intestine) . . . . . . . . . . . 0.007 0.599 D 1.0 0.899 D 0.998 0.875 D 0.001 0.431 D 1 0.090 N 3.715 0.949 H 0.01 0.625 T -4.88 0.813 D 0.708 0.711 -0.286 0.754 T 0.492 0.807 T 0.015 0.354 T 4.859 0.653 24.9 0.997 0.818 0.149 0.184 N c 0.235 -0.033 1.000 0.747 0.707 0.730 0 2.93 0.329 1.613 0.363 1.043 0.663 0.023 0.197 0.031 0.148 7.665 0.274 AIG1-type guanine nucleotide-binding (G) domain|P-loop containing nucleoside triphosphate hydrolase . . 1.625e-05 0 0 0 0 0 3.585e-05 0 0 . . . . . . . . het 636.06 54 7 150389678 . T C 636.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.580;DP=54;Dels=0.00;FS=1.065;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.153;QD=11.78;ReadPosRankSum=-0.745;VQSLOD=4.6863;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:666,0,840 7 150490376 150490376 C T exonic TMEM176B nonsynonymous SNV TMEM176B:NM_001101314:exon4:c.G289A:p.A97T,TMEM176B:NM_001101311:exon5:c.G400A:p.A134T,TMEM176B:NM_001101312:exon5:c.G400A:p.A134T,TMEM176B:NM_014020:exon5:c.G400A:p.A134T 0.41 0.29 0.34 0.53 0.42 0.48 0.4188 0.3016 0.3707 0.5335 0.4273 0.4158 0.4436 0.4734 0.38 0.31 0.42 0.29 0.37 rs2072443 COSM3762487 1(large_intestine) . . . . . . . . . . . 0.103 0.301 T 0.999 0.764 D 0.985 0.749 D 0.705 0.062 N 0.644 0.306 P 2.165 0.608 M 4.23 0.026 T -3.04 0.650 D 0.182 0.290 -0.902 0.478 T 0.000 0.000 T . . . 4.826 0.648 24.8 0.997 0.813 0.299 0.237 N c 0.296 0.165 0.893 0.259 0.615 0.372 0 2.33 0.279 0.491 0.220 0.061 0.167 0.937 0.323 0.019 0.132 4.849 0.128 . ENSG00000106565.13|ENSG00000002933.3|ENSG00000106565.13|ENSG00000002933.3|ENSG00000002726.15 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Whole_Blood|Whole_Blood|Whole_Blood 0.4165 0.2942 0.3680 0.4416 0.5276 0.4330 0.4115 0.4080 0.4675 0.3826 0.3041 0.3345 0.4503 0.5099 0.4370 0.3994 0.4406 het 873.46 85 7 150490376 . C T 873.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.606;DP=85;Dels=0.00;FS=7.784;HRun=0;HaplotypeScore=3.3875;MQ=58.89;MQ0=0;MQRankSum=1.404;QD=10.28;ReadPosRankSum=0.184;VQSLOD=4.7677;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,34:85:99:903,0,1450 7 150491084 150491084 T G exonic TMEM176B nonsynonymous SNV TMEM176B:NM_001101311:exon3:c.A280C:p.S94R,TMEM176B:NM_001101312:exon3:c.A280C:p.S94R,TMEM176B:NM_014020:exon3:c.A280C:p.S94R 0.54 0.5 0.46 0.61 0.58 0.55 0.5589 0.4955 0.4812 0.6084 0.5760 0.5790 0.5776 0.5379 0.55 0.51 0.58 0.48 0.57 rs3173833 COSM323877 1(prostate);1(lung);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.615 0.054 T 0.0 0.026 B 0.001 0.040 B 0.683 0.061 N 1 0.090 P -1.525 0.005 N 4.4 0.022 T 1.66 0.006 N 0.071 0.061 -1.052 0.140 T 0.000 0.000 T . . . -1.215 0.025 0.006 0.695 0.087 0.001 0.005 N c -1.424 -1.334 0.966 0.288 0.554 0.283 0 -0.527 0.113 -0.784 0.047 -0.689 0.038 0.001 0.137 0.006 0.095 3.203 0.062 . ENSG00000106565.13|ENSG00000002933.3|ENSG00000106565.13|ENSG00000106565.13|ENSG00000002933.3|ENSG00000002726.15 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Whole_Blood|Whole_Blood|Whole_Blood 0.5578 0.4955 0.4824 0.6426 0.6017 0.5824 0.5770 0.5582 0.5317 0.5541 0.5008 0.4726 0.6921 0.5880 0.5960 0.5722 0.5703 het 1953.31 171 7 150491084 . T G 1953.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.928;DP=171;Dels=0.00;FS=1.952;HRun=0;HaplotypeScore=6.7950;MQ=59.16;MQ0=0;MQRankSum=0.357;QD=11.42;ReadPosRankSum=0.480;VQSLOD=4.9951;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,83:171:99:1983,0,2199 7 150500520 150500520 C T exonic TMEM176A synonymous SNV TMEM176A:NM_018487:exon4:c.C318T:p.Y106Y 0.2 0.13 0.21 0.038 0.35 0.28 0.2747 0.1589 0.1472 0.0480 0.3952 0.3277 0.3079 0.3021 0.26 0.16 0.31 0.14 0.26 rs741066 COSM150420 1(stomach);1(oesophagus);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2580 0.1620 0.1508 0.2907 0.0516 0.3818 0.3097 0.2798 0.2555 0.2593 0.1639 0.1778 0.2781 0.0414 0.3756 0.3121 0.3139 hom 1754.17 58 7 150500520 . C T 1754.17 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7213;MQ=58.08;MQ0=0;QD=30.24;VQSLOD=7.3721;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1787,141,0 7 150500729 150500729 A G exonic TMEM176A nonsynonymous SNV TMEM176A:NM_018487:exon5:c.A364G:p.T122A 0.9 0.99 0.88 0.94 0.8 0.86 0.8397 0.9647 0.8831 0.9490 0.7895 0.7994 0.8656 0.8545 0.85 0.96 0.79 0.83 0.68 rs741064 COSM1163465 1(pancreas) . . . . . . . . . . . 0.592 0.058 T 0.0 0.026 B 0.0 0.013 B 0.508 0.051 N 1 0.090 P -0.49 0.026 N 4.38 0.023 T -1.78 0.420 N 0.083 0.077 -1.083 0.069 T 0.000 0.000 T . . . -1.565 0.015 0.002 0.450 0.035 0.000 0.003 N c -1.594 -1.648 1.000 0.462 0.497 0.185 0 -3.79 0.040 -1.604 0.022 0.138 0.222 0.000 0.063 0.000 0.016 3.659 0.077 . ENSG00000106565.13|ENSG00000106565.13|ENSG00000106565.13|ENSG00000106565.13|ENSG00000106565.13 Adipose_Visceral_Omentum|Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial|Whole_Blood 0.8392 0.9689 0.8817 0.8810 0.9492 0.7909 0.7955 0.8235 0.8499 0.8529 0.9616 0.8819 0.8709 0.9512 0.7822 0.7956 0.8184 hom 4514.32 140 7 150500729 . A G 4514.32 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.52;MQ0=0;QD=32.25;VQSLOD=8.5875;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4514,343,0 7 150501516 150501516 A G exonic TMEM176A nonsynonymous SNV TMEM176A:NM_018487:exon6:c.A622G:p.T208A 0.74 0.79 0.64 0.76 0.68 0.79 0.7000 0.7596 0.6717 0.7957 0.6993 0.6665 0.7439 0.7657 0.7 0.76 0.67 0.71 0.57 rs9088 COSM4004372 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.102 0.026 N 1 0.090 P -0.6 0.022 N 4.44 0.022 T 1.84 0.006 N 0.016 0.138 -0.989 0.328 T 0.000 0.000 T . . . -2.008 0.008 0.001 0.783 0.118 0.001 0.008 N c -1.834 -1.809 0.999 0.370 0.624 0.395 0 -4.09 0.037 -1.155 0.033 -1.211 0.016 0.000 0.063 0.005 0.090 8.935 0.347 . ENSG00000002933.3|ENSG00000002933.3 Nerve_Tibial|Stomach 0.6966 0.7621 0.6697 0.6862 0.7944 0.6946 0.6642 0.6831 0.7635 0.6997 0.7563 0.6998 0.6887 0.7962 0.6821 0.6623 0.6755 hom 4250.71 141 7 150501516 . A G 4250.71 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8245;MQ=59.60;MQ0=0;QD=30.15;VQSLOD=8.4237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4250,319,0 7 150556002 150556002 T C exonic AOC1 synonymous SNV AOC1:NM_001091:exon3:c.T1722C:p.P574P,AOC1:NM_001272072:exon3:c.T1722C:p.P574P 0.52 0.59 0.46 0.56 0.39 0.54 0.4639 0.5580 0.5135 0.5937 0.4433 0.4141 0.4753 0.5129 0.44 0.55 0.4 0.53 0.34 rs1049748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4593 0.5537 0.4989 0.4637 0.5829 0.4309 0.4072 0.4402 0.5097 0.4653 0.5364 0.5265 0.45 0.5855 0.4333 0.4175 0.4271 het 591.99 43 7 150556002 . T C 591.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.327;DP=43;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.46;MQ0=0;MQRankSum=-1.157;QD=13.77;ReadPosRankSum=1.765;VQSLOD=5.9126;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,20:43:99:622,0,643 7 150556055 150556055 C G exonic AOC1 nonsynonymous SNV AOC1:NM_001091:exon3:c.C1775G:p.T592R,AOC1:NM_001272072:exon3:c.C1775G:p.T592R 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . . 0.89 rs6943147 COSM4590737;COSM4590736 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.127 0.270 T 0.001 0.067 B 0.007 0.121 B 0.000 0.843 D 1.000 0.189 P -0.55 0.024 N 3.75 0.040 T -0.67 0.193 N 0.332 0.443 -0.986 0.337 T 0.000 0.000 T . . . 3.158 0.439 22.6 0.985 0.411 0.035 0.085 N c -0.599 -0.347 1.000 0.517 0.526 0.212 0 4.68 0.582 3.743 0.546 0.136 0.221 1.000 0.715 0.969 0.458 14.357 0.662 Copper amine oxidase\x2c C-terminal . . 1.0000 1 0.9999 0.9999 1 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 941.97 28 7 150556055 . C G 941.97 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=33.64;VQSLOD=8.4689;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:78.24:975,78,0 7 150556056 150556056 G C exonic AOC1 synonymous SNV AOC1:NM_001091:exon3:c.G1776C:p.T592T,AOC1:NM_001272072:exon3:c.G1776C:p.T592T 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . . 0.89 rs6943420 COSM4594979;COSM4594980 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 0.9999 0.9999 1 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 897.37 27 7 150556056 . G C 897.37 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;QD=33.24;VQSLOD=8.3935;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:75.23:930,75,0 7 150695726 150695726 T C exonic NOS3 synonymous SNV NOS3:NM_001160109:exon6:c.T774C:p.D258D,NOS3:NM_001160110:exon6:c.T774C:p.D258D,NOS3:NM_001160111:exon6:c.T774C:p.D258D,NOS3:NM_000603:exon7:c.T774C:p.D258D 0.82 0.92 0.79 0.81 0.66 0.87 0.7701 0.8923 0.8434 0.8305 0.7315 0.7104 0.7592 0.8580 0.76 0.88 0.69 0.73 0.65 rs1549758 COSM4161955 3(thyroid) Benign not_specified RCV000455232.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7585 0.8910 0.8215 0.7987 0.8192 0.7187 0.6883 0.7422 0.8548 0.7672 0.8835 0.7811 0.7980 0.7993 0.7301 0.7034 0.7678 hom 501.23 21 7 150695726 . T C 501.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.404;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.908;QD=23.87;ReadPosRankSum=0.908;VQSLOD=13.2786;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,20:21:16.32:534,16,0 7 150696111 150696111 T G exonic NOS3 nonsynonymous SNV NOS3:NM_001160109:exon7:c.T894G:p.D298E,NOS3:NM_001160110:exon7:c.T894G:p.D298E,NOS3:NM_001160111:exon7:c.T894G:p.D298E,NOS3:NM_000603:exon8:c.T894G:p.D298E 0.82 0.93 0.79 0.87 0.66 0.83 0.7530 0.8906 0.8311 0.8966 0.7079 0.6862 0.7247 0.8226 0.75 0.88 0.68 0.83 0.72 rs1799983 . . other|other|other|Pathogenic|other|other|Benign Coronary_artery_spasm_1\x2c_susceptibility_to|Alzheimer_disease\x2c_late-onset\x2c_susceptibility_to|Hypertension\x2c_pregnancy-induced\x2c_susceptibility_to|Hypertension_resistant_to_conventional_therapy|Ischemic_heart_disease\x2c_susceptibility_to|Ischemic_stroke\x2c_susceptibility_to|not_specified RCV000015053.3|RCV000015054.3|RCV000015055.3|RCV000015056.26|RCV000015057.3|RCV000015058.3|RCV000455688.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.425 N 1.000 0.191 P . . . 2.12 0.197 T 0.9 0.019 N 0.045 0.032 -0.957 0.397 T 0.000 0.000 T . . . -0.419 0.060 0.348 0.216 0.008 0.095 0.150 N c -0.952 -0.884 1.000 0.411 0.707 0.730 0 1.04 0.191 -0.502 0.064 -0.347 0.071 0.015 0.189 0.954 0.431 0.711 0.009 Nitric oxide synthase\x2c N-terminal . . 0.7497 0.8927 0.8167 0.7924 0.8922 0.7073 0.6735 0.7327 0.8211 0.7645 0.8873 0.7787 0.7947 0.8900 0.7142 0.6905 0.7495 hom 5377.10 177 7 150696111 . T G 5377.10 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7915;MQ=58.63;MQ0=0;QD=30.38;VQSLOD=6.8348;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5376,415,0 7 150704250 150704250 C G exonic NOS3 synonymous SNV NOS3:NM_000603:exon17:c.C1998G:p.A666A 0.43 0.56 0.5 0.39 0.27 0.41 0.3414 0.5086 0.6164 0.3639 0.3497 0.2595 0.3293 0.3590 0.33 0.5 0.25 0.45 0.23 rs2566514 COSM4415182 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454549.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3448 0.5132 0.5875 0.2355 0.3598 0.3476 0.2533 0.3248 0.3553 0.3582 0.5025 0.5455 0.1921 0.3416 0.3438 0.2737 0.3367 het 3115.17 199 7 150704250 . C G 3115.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.998;DP=199;DS;Dels=0.00;FS=1.875;HRun=1;HaplotypeScore=5.0463;MQ=58.78;MQ0=0;MQRankSum=1.121;QD=15.65;ReadPosRankSum=0.679;VQSLOD=4.4827;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,117:199:99:3145,0,1950 7 150713902 150713902 - C exonic;splicing ATG9B;ATG9B NM_001317056:exon10:c.2294+2->G unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 0.022 . rs77573754 COSM5022160 1(bone);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2444.69 62 7 150713902 . G GC 2444.69 Mask AC=2;AF=1.00;AN=2;DP=62;FS=0.000;HRun=1;HaplotypeScore=119.8410;MQ=60.12;MQ0=0;QD=39.43;set=variant2 GT:AD:DP:GQ:PL 1/1:1,61:62:99:2487,172,0 7 150715817 150715817 A G exonic ATG9B unknown UNKNOWN 0.82 0.92 0.84 0.83 0.75 0.73 0.8008 0.8839 0.8775 0.8698 0.8084 0.7783 0.7703 0.7576 0.82 0.89 0.79 0.47 0.63 rs1835428 COSM4161956 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7885 0.8767 0.8581 0.6807 0.8553 0.7958 0.7681 0.7783 0.7464 0.8104 0.8751 0.8455 0.6939 0.8502 0.8061 0.7718 0.7797 hom 603.76 19 7 150715817 . A G 603.76 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.78;VQSLOD=13.5045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:51.14:637,51,0 7 150730999 150730999 G A exonic ABCB8 nonsynonymous SNV ABCB8:NM_001282292:exon2:c.G403A:p.V135I,ABCB8:NM_007188:exon2:c.G403A:p.V135I,ABCB8:NM_001282291:exon3:c.G454A:p.V152I 0.06 0.081 0.049 0.061 0.05 0.047 0.0542 0.0682 0.0621 0.0873 0.0288 0.0473 0.0535 0.0622 0.052 0.065 0.046 0.054 0.082 rs4148844 COSM5904863;COSM5904864 1(skin) . . . . . . . . . . . 0.717 0.040 T 0.002 0.126 B 0.016 0.198 B 0.001 0.429 N 1 0.810 D 0.88 0.216 L -2.31 0.878 D -0.32 0.131 N 0.052 0.039 -1.002 0.295 T 0.030 0.131 T . . . 0.497 0.142 7.408 0.798 0.125 0.230 0.217 N c -1.056 -0.916 1.000 0.407 0.732 0.924 0 0.441 0.157 -0.112 0.107 -0.254 0.089 0.551 0.271 0.564 0.282 6.314 0.203 ABC transporter type 1\x2c transmembrane domain . . 0.0517 0.0685 0.0557 0.0414 0.0872 0.0269 0.0475 0.0421 0.0531 0.0503 0.0671 0.0489 0.0497 0.0951 0.0287 0.0413 0.0418 het 1273.83 88 7 150730999 . G A 1273.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.362;DP=88;Dels=0.00;FS=0.866;HRun=0;HaplotypeScore=2.6566;MQ=59.74;MQ0=0;MQRankSum=0.454;QD=14.48;ReadPosRankSum=-0.310;VQSLOD=6.5633;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,52:88:99:1304,0,843 7 150739054 150739054 G A exonic ABCB8 nonsynonymous SNV ABCB8:NM_001282293:exon13:c.G1360A:p.V454I,ABCB8:NM_001282292:exon14:c.G1624A:p.V542I,ABCB8:NM_007188:exon14:c.G1624A:p.V542I,ABCB8:NM_001282291:exon15:c.G1675A:p.V559I 0.027 0.0008 0.048 0.021 0.045 0.034 0.0371 0.0062 0.0570 0.0207 0.0278 0.0406 0.0402 0.0405 0.029 0.0077 0.041 0.022 0.09 rs56198402 . . . . . . . . . . . . . 0.545 0.078 T 0.08 0.249 B 0.047 0.296 B 0.000 0.629 D 1 0.810 D 0.62 0.158 N -2.7 0.905 D -0.47 0.152 N 0.101 0.256 -0.615 0.642 T 0.136 0.452 T . . . 2.335 0.342 18.39 0.933 0.225 0.983 0.815 D c -0.220 -0.047 1.000 0.747 0.706 0.609 0 3.83 0.431 4.884 0.626 -0.239 0.092 1.000 0.715 0.605 0.289 11.024 0.468 AAA+ ATPase domain|ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.0367 0.0066 0.0513 0.0211 0.0222 0.0258 0.0410 0.0367 0.0412 0.0266 0.0071 0.0477 0.0232 0.0210 0.0284 0.0364 0.0367 het 1413.31 121 7 150739054 . G A 1413.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.668;DP=121;Dels=0.00;FS=3.308;HRun=0;HaplotypeScore=1.7480;MQ=59.19;MQ0=0;MQRankSum=0.848;QD=11.68;ReadPosRankSum=-1.258;VQSLOD=5.5750;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,57:121:99:1443,0,1543 7 150742388 150742388 A C exonic ABCB8 synonymous SNV ABCB8:NM_001282293:exon15:c.A1845C:p.P615P,ABCB8:NM_001282292:exon16:c.A2034C:p.P678P,ABCB8:NM_007188:exon16:c.A2109C:p.P703P,ABCB8:NM_001282291:exon17:c.A2160C:p.P720P 0.059 0.08 0.049 0.061 0.051 0.045 0.0524 0.0660 0.0611 0.0870 0.0289 0.0468 0.0529 0.0517 0.05 0.062 0.044 0.054 0.09 rs61741011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0456 0.0609 0.0495 0.0355 0.0728 0.0250 0.0440 0.0382 0.0461 0.0502 0.0662 0.0477 0.0497 0.0968 0.0287 0.0415 0.0429 het 784.06 55 7 150742388 . A C 784.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.308;DP=55;Dels=0.00;FS=4.709;HRun=4;HaplotypeScore=1.9825;MQ=57.85;MQ0=0;MQRankSum=-0.548;QD=14.26;ReadPosRankSum=-0.061;VQSLOD=4.0232;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,30:55:99:814,0,654 7 150765065 150765065 T C exonic SLC4A2 synonymous SNV SLC4A2:NM_001199693:exon7:c.T1044C:p.T348T,SLC4A2:NM_001199694:exon7:c.T1029C:p.T343T,SLC4A2:NM_001199692:exon8:c.T1071C:p.T357T,SLC4A2:NM_003040:exon8:c.T1071C:p.T357T 0.9 0.95 0.9 0.95 0.84 0.82 0.8660 0.9267 0.9393 0.9510 0.8622 0.8389 0.8416 0.8437 0.86 0.92 0.83 0.9 0.7 rs2229550 COSM4161958 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8657 0.9267 0.9298 0.8939 0.9468 0.8638 0.8311 0.8741 0.8404 0.8746 0.9225 0.9175 0.8676 0.9420 0.8582 0.8423 0.8551 hom 729.79 24 7 150765065 . T C 729.79 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=30.41;VQSLOD=9.0233;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:69.17:763,69,0 7 151064064 151064064 C T exonic NUB1 synonymous SNV NUB1:NM_001243351:exon9:c.C912T:p.Y304Y,NUB1:NM_016118:exon9:c.C912T:p.Y304Y 0.38 0.16 0.46 0.46 0.63 0.3 0.5304 0.2248 0.3947 0.5104 0.6566 0.6340 0.5434 0.3379 0.49 0.21 0.62 0.36 . rs386956 COSM4418552;COSM1449335 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5249 0.2089 0.3997 0.5555 0.5063 0.6547 0.6336 0.5332 0.3304 0.5156 0.2180 0.4415 0.5563 0.5297 0.6611 0.6523 0.5777 het 397.91 36 7 151064064 . C T 397.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.130;DP=36;Dels=0.00;FS=5.334;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;MQRankSum=-1.098;QD=11.05;ReadPosRankSum=-1.671;VQSLOD=5.0325;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,16:36:99:428,0,484 7 151074296 151074296 A G exonic NUB1 synonymous SNV NUB1:NM_001243351:exon15:c.A1905G:p.A635A,NUB1:NM_016118:exon15:c.A1863G:p.A621A 0.33 0.12 0.4 0.46 0.52 0.24 0.5020 0.2278 0.4738 0.5432 0.5687 0.5708 0.5021 0.3408 0.41 0.17 0.51 0.28 . rs2159158 COSM4161980 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4389 0.1551 0.3578 0.4043 0.4936 0.5356 0.5179 0.4430 0.2562 0.4311 0.1713 0.3741 0.4205 0.5198 0.5525 0.5449 0.4796 het 105.59 18 7 151074296 . A G 105.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.676;DP=18;Dels=0.00;FS=5.563;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=2.760;QD=5.87;ReadPosRankSum=-1.281;VQSLOD=2.3526;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:136,0,318 7 151097323 151097323 A G exonic WDR86 synonymous SNV WDR86:NM_001284260:exon2:c.T168C:p.H56H,WDR86:NM_198285:exon2:c.T168C:p.H56H 0.71 0.66 0.75 0.82 0.72 0.61 0.7360 0.6876 0.7757 0.8326 0.8150 0.7327 0.7453 0.6627 0.71 0.69 0.73 0.67 . rs11767693 COSM5415187;COSM5415186 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7344 0.6812 0.7687 0.7030 0.8271 0.8159 0.7275 0.7190 0.6466 0.7298 0.6615 0.7434 0.7086 0.8275 0.8218 0.7374 0.7271 hom 906.27 30 7 151097323 . A G 906.27 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=30.21;VQSLOD=7.9626;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:75.23:939,75,0 7 151680072 151680072 T C exonic GALNTL5 nonsynonymous SNV GALNTL5:NM_145292:exon4:c.T370C:p.C124R 0.8 0.74 0.86 0.84 0.84 0.76 0.8414 0.7445 0.8975 0.8539 0.8991 0.8606 0.8271 0.7568 0.82 0.75 0.86 0.78 0.8 rs6960270 . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.997 0.850 D 0.000 0.537 D 0.000 0.588 P 2.2 0.622 M 0.32 0.585 T -11.22 0.994 D 0.316 0.377 -1.019 0.239 T 0.000 0.000 T . . . 4.641 0.622 24.5 0.996 0.756 0.822 0.412 D c 0.575 0.458 0.172 0.178 0.487 0.133 0 4.65 0.575 3.994 0.565 1.061 0.807 1.000 0.715 0.749 0.321 12.349 0.543 Nucleotide-diphospho-sugar transferases . . 0.8473 0.7457 0.8980 0.8614 0.8557 0.8949 0.8587 0.8354 0.7599 0.8375 0.7485 0.8962 0.8510 0.8795 0.8943 0.8649 0.8839 hom 4199.30 136 7 151680072 . T C 4199.30 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=30.88;VQSLOD=9.1403;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4198,334,0 7 151684256 151684256 A G exonic GALNTL5 nonsynonymous SNV GALNTL5:NM_145292:exon5:c.A548G:p.E183G 0.22 0.26 0.23 0.21 0.16 0.24 0.1891 0.2486 0.2790 0.1753 0.1522 0.1572 0.1690 0.2398 0.18 0.22 0.16 0.23 0.11 rs61729490 COSM4415550 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.405 0.103 T 0.014 0.156 B 0.019 0.176 B 0.514 0.118 N 1.000 0.090 P 1.555 0.395 L -0.06 0.636 T -2.96 0.617 D 0.069 0.056 -1.040 0.174 T 0.000 0.000 T . . . 2.882 0.407 21.8 0.984 0.408 0.304 0.238 N c -0.760 -0.733 0.000 0.060 0.487 0.133 0 -2.57 0.059 1.463 0.347 1.199 0.960 1.000 0.715 0.996 0.625 5.072 0.139 Glycosyltransferase 2-like|Nucleotide-diphospho-sugar transferases . . 0.1772 0.24 0.2494 0.1733 0.1617 0.1474 0.1490 0.1745 0.2267 0.1840 0.2367 0.2649 0.1954 0.1706 0.1375 0.1618 0.1704 het 270.84 35 7 151684256 . A G 270.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.937;DP=35;Dels=0.00;FS=3.580;HRun=1;HaplotypeScore=1.8997;MQ=59.34;MQ0=0;MQRankSum=-1.338;QD=7.74;ReadPosRankSum=-0.122;VQSLOD=4.8349;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,12:35:99:301,0,616 7 151800292 151800292 A G exonic GALNT11 nonsynonymous SNV GALNT11:NM_001304514:exon3:c.A272G:p.H91R,GALNT11:NM_022087:exon4:c.A515G:p.H172R 0.0002 . . . 0.001 . 0.0002 0 0.0003 0 0 0.0004 0 0 0.0005 . 0.0008 . . rs56099066 . . . . . . . . . . . . . 0.055 0.574 T 0.364 0.715 B 0.188 0.685 B 0.000 0.843 D 1.000 0.588 D 0.105 0.085 N 0.18 0.604 T -4.64 0.793 D 0.878 0.876 -0.896 0.484 T 0.185 0.535 T 0.043 0.608 D 3.598 0.490 23.2 0.996 0.720 0.991 0.912 D c 0.391 0.416 0.999 0.382 0.706 0.609 0 3.85 0.434 9.249 0.946 1.088 0.866 1.000 0.715 0.983 0.502 10.530 0.440 Glycosyltransferase 2-like|Nucleotide-diphospho-sugar transferases;Nucleotide-diphospho-sugar transferases . . 0.0002 6.534e-05 0.0002 0 0 0 0.0005 0 0 9.695e-05 0.0001 0 0 0 0 0.0001 0 het 1566.27 138 7 151800292 . A G 1566.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.705;DP=138;Dels=0.00;FS=5.113;HRun=0;HaplotypeScore=1.8313;MQ=59.70;MQ0=0;MQRankSum=-0.701;QD=11.35;ReadPosRankSum=-0.295;VQSLOD=5.0056;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,63:138:99:1596,0,1991 7 151873853 151873853 C T exonic KMT2C synonymous SNV KMT2C:NM_170606:exon38:c.G8685A:p.Q2895Q 0.38 0.75 0.24 0.3 0.17 0.28 0.2494 0.6953 0.2344 0.3157 0.2697 0.1679 0.2335 0.2663 0.34 0.69 0.16 0.43 0.21 rs6464211 COSM3762511;COSM3762512 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2411 0.7040 0.2298 0.2467 0.3193 0.2676 0.1571 0.2222 0.2656 0.3452 0.6988 0.2188 0.2384 0.2983 0.2690 0.1798 0.2281 het 1541.05 103 7 151873853 . C T 1541.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.547;DP=103;Dels=0.00;FS=10.332;HRun=1;HaplotypeScore=2.8528;MQ=59.33;MQ0=0;MQRankSum=-0.399;QD=14.96;ReadPosRankSum=-1.706;VQSLOD=4.1779;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,53:103:99:1571,0,1479 7 151945071 151945071 - T exonic KMT2C stopgain KMT2C:NM_170606:exon14:c.2447dupA:p.Y816fs*0 . . . . . . 0.4901 0.4875 0.4931 0.4981 0.4865 0.4876 0.4898 0.4965 . . . . . rs150073007 COSM289942;COSM289943 1(oesophagus);3(skin);2(large_intestine);2(central_nervous_system) Benign not_specified RCV000455198.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4875 0.4722 0.4896 0.4843 0.4985 0.4895 0.4850 0.4800 0.4942 0.4828 0.4719 0.4904 0.4902 0.4977 0.4841 0.4847 0.4893 het 2563.68 240 7 151945071 . G GT 2563.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-11.045;DP=240;DS;FS=14.776;HRun=1;HaplotypeScore=783.8574;MQ=47.88;MQ0=2;MQRankSum=0.389;QD=10.25;ReadPosRankSum=1.017;set=variant2 GT:AD:DP:GQ:PL 0/1:173,77:240:99:2603,0,4857 7 154429560 154429560 C T exonic DPP6 synonymous SNV DPP6:NM_001039350:exon6:c.C465T:p.Y155Y,DPP6:NM_001936:exon6:c.C471T:p.Y157Y,DPP6:NM_130797:exon6:c.C657T:p.Y219Y 0.7 0.51 0.64 0.89 0.72 0.76 0.7393 0.5677 0.6656 0.9138 0.7737 0.7431 0.7414 0.7602 0.65 0.53 0.71 0.67 . rs11243339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7109 0.5169 0.6094 0.7537 0.9137 0.7591 0.7111 0.7026 0.7513 0.6845 0.5305 0.6002 0.7748 0.9289 0.7676 0.7268 0.7531 hom 518.78 19 7 154429560 . C T 518.78 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=27.30;VQSLOD=8.2734;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:42.13:552,42,0 7 154461112 154461112 A G exonic DPP6 synonymous SNV DPP6:NM_001039350:exon7:c.A531G:p.K177K,DPP6:NM_001936:exon7:c.A537G:p.K179K,DPP6:NM_130797:exon7:c.A723G:p.K241K 0.8 0.62 0.84 0.84 0.91 0.85 0.8671 0.6810 0.8554 0.8546 0.8918 0.8986 0.8956 0.8755 0.84 0.69 0.9 0.84 . rs3807218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8695 0.6672 0.8462 0.8447 0.8474 0.8917 0.9055 0.8844 0.8718 0.8324 0.6677 0.8449 0.8642 0.8335 0.9098 0.9050 0.8885 hom 290.27 12 7 154461112 . A G 290.27 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=24.19;VQSLOD=13.6951;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:24.08:323,24,0 7 154667628 154667628 A G exonic DPP6 synonymous SNV DPP6:NM_001290252:exon18:c.A1575G:p.P525P,DPP6:NM_001039350:exon20:c.A1704G:p.P568P,DPP6:NM_001936:exon20:c.A1710G:p.P570P,DPP6:NM_130797:exon20:c.A1896G:p.P632P 0.59 0.77 0.59 0.56 0.52 0.43 0.5314 0.7431 0.6312 0.5555 0.5038 0.5088 0.4826 0.4342 0.59 0.73 0.52 0.53 . rs2293353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5275 0.7451 0.6153 0.4774 0.5550 0.5049 0.5066 0.5252 0.4212 0.5925 0.7535 0.5907 0.5166 0.5758 0.5226 0.5238 0.5133 het 169.09 20 7 154667628 . A G 169.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.064;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.140;QD=8.45;ReadPosRankSum=-1.368;VQSLOD=11.0359;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,9:20:99:199,0,325 7 155503920 155503920 A T exonic RBM33 synonymous SNV RBM33:NM_053043:exon8:c.A972T:p.P324P 0.64 0.5 0.49 0.69 0.75 0.79 0.6821 0.5381 0.4000 0.6863 0.7132 0.7235 0.6894 0.7777 0.66 0.54 0.72 0.6 . rs7800753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6690 0.5226 0.4052 0.6962 0.6883 0.7058 0.7225 0.6699 0.7692 0.6571 0.5423 0.4724 0.66 0.7022 0.7052 0.7170 0.6777 het 157.87 11 7 155503920 . A T 157.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.466;QD=14.35;ReadPosRankSum=-0.466;VQSLOD=11.2865;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:188,0,142 7 155530954 155530954 T C exonic RBM33 synonymous SNV RBM33:NM_053043:exon11:c.T1594C:p.L532L 0.32 0.55 0.27 0.31 0.19 0.18 0.2443 0.5047 0.2873 0.3140 0.1955 0.2077 0.2467 0.1906 0.29 0.48 0.19 0.38 . rs2178428 COSM4415397;COSM4415398 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2393 0.5069 0.2780 0.2523 0.3081 0.1922 0.2018 0.2432 0.1914 0.2885 0.4925 0.2888 0.27 0.2939 0.1992 0.1940 0.2372 het 1303.58 119 7 155530954 . T C 1303.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.114;DP=119;Dels=0.00;FS=2.450;HRun=2;HaplotypeScore=3.7429;MQ=59.49;MQ0=0;MQRankSum=0.038;QD=10.95;ReadPosRankSum=1.977;VQSLOD=4.7813;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,49:119:99:1334,0,1895 7 155531080 155531080 A G exonic RBM33 nonsynonymous SNV RBM33:NM_053043:exon11:c.A1720G:p.T574A 0.37 0.72 0.28 0.31 0.19 0.18 0.2575 0.6393 0.2917 0.3127 0.1973 0.2088 0.2522 0.1967 0.33 0.61 0.2 0.46 . rs3735576 COSM4414971;COSM4414972 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.915 0.023 T 0.0 0.026 B 0.001 0.040 B 0.285 0.149 N 1 0.090 P 0.075 0.083 N 1.01 0.411 T 0.43 0.033 N 0.046 0.311 -0.933 0.438 T 0.000 0.000 T . . . -0.312 0.067 0.623 0.273 0.014 0.051 0.108 N c -0.973 -0.858 1.000 0.489 0.672 0.522 0 2.89 0.326 1.486 0.349 0.076 0.183 0.034 0.205 0.903 0.383 7.324 0.256 . . . 0.2498 0.6428 0.2845 0.2564 0.3078 0.1933 0.2025 0.2494 0.1915 0.3284 0.6289 0.2974 0.2748 0.2927 0.2006 0.1954 0.2505 het 846.20 77 7 155531080 . A G 846.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.529;DP=77;Dels=0.00;FS=4.632;HRun=0;HaplotypeScore=0.6651;MQ=58.97;MQ0=0;MQRankSum=0.394;QD=10.99;ReadPosRankSum=1.233;VQSLOD=5.8903;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,35:77:99:876,0,1146 7 156469133 156469133 C G exonic RNF32 nonsynonymous SNV RNF32:NM_001184996:exon9:c.C873G:p.H291Q,RNF32:NM_001184997:exon9:c.C873G:p.H291Q,RNF32:NM_030936:exon9:c.C873G:p.H291Q 0.4 0.53 0.41 0.41 0.35 0.26 0.3681 0.4990 0.4802 0.4161 0.3744 0.3426 0.3201 0.2856 0.39 0.49 0.35 0.033 0.39 rs2302147 COSM3762527;COSM3762528 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.295 0.147 T 0.033 0.190 B 0.006 0.112 B 0.329 0.041 N 1.000 0.588 P -0.145 0.044 N 1.02 0.407 T 0.3 0.041 N 0.019 0.021 -0.961 0.390 T 0.000 0.000 T . . . -0.137 0.081 1.472 0.687 0.085 0.135 0.177 N c -1.525 -1.545 1.000 0.434 0.615 0.372 0 -3.84 0.040 -1.249 0.030 -3.541 0.001 0.000 0.063 0.001 0.043 12.477 0.550 Zinc finger\x2c RING-type|Zinc finger\x2c RING/FYVE/PHD-type ENSG00000182648.7|ENSG00000233878.1|ENSG00000182648.7|ENSG00000182648.7|ENSG00000182648.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa 0.3712 0.5054 0.4678 0.2972 0.4161 0.3726 0.3453 0.3675 0.2904 0.4053 0.4955 0.4388 0.2583 0.4080 0.3825 0.3614 0.3706 het 1365.39 112 7 156469133 . C G 1365.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.273;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4127;MQ=60.00;MQ0=0;MQRankSum=0.116;QD=12.19;ReadPosRankSum=-1.013;VQSLOD=5.0620;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,57:112:99:1395,0,1303 7 156469179 156469179 C T exonic RNF32 nonsynonymous SNV RNF32:NM_001184996:exon9:c.C919T:p.R307C,RNF32:NM_001184997:exon9:c.C919T:p.R307C,RNF32:NM_030936:exon9:c.C919T:p.R307C 0.4 0.53 0.41 0.41 0.36 0.26 0.3710 0.4977 0.4774 0.4124 0.4396 0.3425 0.3426 0.2851 0.39 0.49 0.34 0.011 0.37 rs2302146 COSM5002313;COSM5002312 1(pancreas) . . . . . . . . . . . 0.066 0.361 T 0.986 0.596 D 0.594 0.487 P 0.097 0.025 N 1 0.090 P -0.255 0.038 N -0.26 0.672 T -0.68 0.195 N 0.02 0.036 -1.001 0.297 T 0.000 0.000 T . . . 3.625 0.493 23.2 0.996 0.751 0.124 0.171 N c -0.542 -0.755 0.999 0.380 0.615 0.372 0 -0.589 0.110 0.601 0.236 -0.028 0.127 0.000 0.063 0.000 0.016 2.196 0.036 Zinc finger\x2c RING-type|Zinc finger\x2c RING/FYVE/PHD-type ENSG00000182648.7|ENSG00000233878.1|ENSG00000182648.7|ENSG00000182648.7|ENSG00000182648.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa 0.3774 0.5050 0.4682 0.2974 0.4147 0.4396 0.3456 0.3741 0.2902 0.4153 0.4951 0.4424 0.2567 0.4051 0.4527 0.3648 0.3873 het 897.41 65 7 156469179 . C T 897.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.681;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5059;MQ=59.65;MQ0=0;MQRankSum=-1.332;QD=13.81;ReadPosRankSum=1.739;VQSLOD=5.2365;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,33:65:99:927,0,831 7 156469190 156469190 A G exonic RNF32 synonymous SNV RNF32:NM_001184996:exon9:c.A930G:p.A310A,RNF32:NM_001184997:exon9:c.A930G:p.A310A,RNF32:NM_030936:exon9:c.A930G:p.A310A 0.53 0.86 0.46 0.52 0.4 0.28 0.4279 0.7893 0.5072 0.5336 0.4624 0.3737 0.3822 0.2976 0.51 0.77 0.38 0.043 0.44 rs2302145 COSM3762530;COSM3762529 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4276 0.7995 0.4990 0.3151 0.5347 0.4622 0.3772 0.4108 0.3019 0.5218 0.7902 0.4652 0.2733 0.5218 0.4745 0.3913 0.4232 het 834.17 62 7 156469190 . A G 834.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.844;DP=62;Dels=0.00;FS=0.970;HRun=2;HaplotypeScore=2.7165;MQ=59.63;MQ0=0;MQRankSum=-0.310;QD=13.45;ReadPosRankSum=1.211;VQSLOD=5.6290;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,31:62:99:864,0,937 7 156761818 156761818 G A exonic NOM1 nonsynonymous SNV NOM1:NM_138400:exon10:c.G2336A:p.R779H 0.45 0.43 0.52 0.28 0.57 0.46 0.5046 0.4264 0.5295 0.2835 0.4552 0.5552 0.5452 0.4653 0.53 0.44 0.57 0.54 0.59 rs2302445 COSM5654111 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.771 0.034 T 0.028 0.184 B 0.01 0.139 B 0.027 0.258 N 0.998 0.224 P -1.175 0.009 N 2.65 0.127 T 0.96 0.015 N 0.061 0.045 -0.933 0.437 T 0.000 0.000 T . . . 2.460 0.357 19.21 0.437 0.033 0.187 0.201 N c -0.908 -0.734 0.992 0.328 0.732 0.924 0 2.73 0.311 1.603 0.362 -0.158 0.107 0.885 0.308 0.870 0.364 1.439 0.022 . ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Stomach|Testis|Thyroid 0.5074 0.4200 0.5286 0.6226 0.2804 0.4546 0.5577 0.5479 0.4665 0.4806 0.4108 0.5622 0.6391 0.2953 0.4309 0.5432 0.5071 het 889.37 80 7 156761818 . G A 889.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.113;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7969;MQ=58.66;MQ0=0;MQRankSum=-0.550;QD=11.12;ReadPosRankSum=0.048;VQSLOD=5.9016;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,37:80:99:919,0,1087 7 156762224 156762224 G C exonic NOM1 nonsynonymous SNV NOM1:NM_138400:exon11:c.G2410C:p.V804L 0.46 0.47 0.53 0.28 0.57 0.46 0.5091 0.4660 0.5314 0.2850 0.4559 0.5554 0.5443 0.4696 0.54 0.48 0.57 0.56 0.61 rs2302443 COSM5618188 1(breast) . . . . . . . . . . . 0.135 0.262 T 0.025 0.179 B 0.026 0.195 B 0.000 0.457 D 0.001 0.456 P 1.935 0.520 L 2.66 0.126 T -1.47 0.360 N 0.045 0.025 -0.913 0.466 T 0.000 0.000 T . . . 1.823 0.280 15.12 0.978 0.353 0.915 0.534 D c -0.330 -0.181 1.000 0.500 0.707 0.730 0 4.52 0.546 1.128 0.308 0.103 0.200 1.000 0.715 0.941 0.415 3.830 0.083 . ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Stomach|Testis|Thyroid 0.5101 0.4573 0.5308 0.6226 0.2806 0.4536 0.5578 0.5476 0.4673 0.4918 0.4507 0.5632 0.6433 0.2942 0.4310 0.5431 0.5082 het 2442.45 172 7 156762224 . G C 2442.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.179;DP=172;Dels=0.00;FS=2.753;HRun=0;HaplotypeScore=7.9070;MQ=59.30;MQ0=0;MQRankSum=-1.465;QD=14.20;ReadPosRankSum=0.354;VQSLOD=3.7440;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,91:172:99:2472,0,2351 7 156762248 156762248 G A exonic NOM1 nonsynonymous SNV NOM1:NM_138400:exon11:c.G2434A:p.V812M 0.48 0.56 0.54 0.28 0.57 0.46 0.5160 0.5456 0.5356 0.2851 0.4557 0.5556 0.5497 0.4662 0.56 0.55 0.57 0.62 0.58 rs12919 . . . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.003 0.080 B 0.000 0.629 N 1 0.090 P -0.55 0.024 N 2.8 0.111 T 1.66 0.006 N 0.016 0.003 -1.029 0.208 T 0.000 0.000 T . . . -1.027 0.031 0.014 0.044 0.000 0.016 0.051 N c -1.710 -1.628 1.000 0.446 0.707 0.730 0 -3.13 0.049 -0.186 0.096 -0.717 0.036 0.013 0.187 0.150 0.205 3.089 0.059 . ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3|ENSG00000146909.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Stomach|Testis|Thyroid 0.5160 0.5355 0.5359 0.6223 0.2808 0.4543 0.5582 0.5510 0.4677 0.5129 0.5256 0.5682 0.6391 0.2926 0.4310 0.5429 0.5122 het 2728.49 234 7 156762248 . G A 2728.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.175;DP=234;Dels=0.00;FS=1.859;HRun=0;HaplotypeScore=5.8248;MQ=59.16;MQ0=0;MQRankSum=0.012;QD=11.66;ReadPosRankSum=0.688;VQSLOD=5.2135;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,111:234:99:2758,0,3378 7 157000176 157000176 T C exonic UBE3C synonymous SNV UBE3C:NM_014671:exon12:c.T1503C:p.Y501Y 0.51 0.83 0.39 0.45 0.36 0.37 0.4026 0.7716 0.4580 0.4460 0.3124 0.3450 0.4106 0.3768 0.49 0.76 0.35 0.59 0.37 rs2301914 COSM3762537 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3972 0.7762 0.4575 0.4343 0.4340 0.3120 0.3425 0.3808 0.3736 0.4662 0.7743 0.4531 0.4007 0.4516 0.3227 0.3314 0.3544 het 1382.93 92 7 157000176 . T C 1382.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.826;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7988;MQ=60.00;MQ0=0;MQRankSum=0.790;QD=15.03;ReadPosRankSum=-0.068;VQSLOD=6.0627;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,52:92:99:1413,0,1028 7 157396697 157396697 G A exonic PTPRN2 synonymous SNV PTPRN2:NM_001308267:exon15:c.C2301T:p.P767P,PTPRN2:NM_130842:exon15:c.C2364T:p.P788P,PTPRN2:NM_130843:exon15:c.C2328T:p.P776P,PTPRN2:NM_001308268:exon16:c.C2484T:p.P828P,PTPRN2:NM_002847:exon16:c.C2415T:p.P805P 0.12 0.013 0.16 0.006 0.33 0.13 0.2395 0.0554 0.1450 0.0010 0.2465 0.3384 0.2271 0.1471 0.25 0.068 0.34 0.12 0.38 rs17853260 COSM452796;COSM4407299 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2401 0.0491 0.1567 0.3174 0.0005 0.2443 0.3434 0.2808 0.1516 0.2259 0.0601 0.1746 0.3411 0.0018 0.2417 0.3407 0.2689 het 900.52 97 7 157396697 . G A 900.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.822;DP=97;Dels=0.00;FS=0.814;HRun=0;HaplotypeScore=2.9951;MQ=58.50;MQ0=0;MQRankSum=-1.513;QD=9.28;ReadPosRankSum=-0.729;VQSLOD=4.1583;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,40:97:99:931,0,1557 7 157414064 157414064 G A exonic PTPRN2 synonymous SNV PTPRN2:NM_001308267:exon14:c.C2220T:p.A740A,PTPRN2:NM_130842:exon14:c.C2283T:p.A761A,PTPRN2:NM_130843:exon14:c.C2247T:p.A749A,PTPRN2:NM_001308268:exon15:c.C2403T:p.A801A,PTPRN2:NM_002847:exon15:c.C2334T:p.A778A 0.45 0.66 0.45 0.36 0.48 0.24 0.4331 0.6504 0.3814 0.3754 0.4096 0.4668 0.4186 0.2416 0.55 0.66 0.49 0.64 0.47 rs1130502 COSM3762539 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4926 0.6496 0.4200 0.5072 0.3720 0.3843 0.4475 0.4306 het 3980.26 250 7 157414064 . G A 3980.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.431;DP=250;DS;Dels=0.00;FS=3.759;HRun=0;HaplotypeScore=4.9030;MQ=57.31;MQ0=0;MQRankSum=0.294;QD=15.92;ReadPosRankSum=-0.917;VQSLOD=3.5804;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,114:250:99:3275,0,3542 7 157931003 157931003 C T exonic PTPRN2 nonsynonymous SNV PTPRN2:NM_001308267:exon6:c.G1001A:p.R334H,PTPRN2:NM_130842:exon6:c.G1064A:p.R355H,PTPRN2:NM_001308268:exon7:c.G1184A:p.R395H,PTPRN2:NM_002847:exon7:c.G1115A:p.R372H,PTPRN2:NM_130843:exon7:c.G1115A:p.R372H 0.0032 0.0008 0.0014 . 0.0099 0.0041 0.0091 0.0024 0.0043 0.0010 0.0032 0.0138 0.0057 0.0046 0.012 0.0045 0.016 0.011 0.025 rs77347072 . . . . . . . . . . . . . 0.43 0.116 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 N 0.345 0.112 N 4.02 0.032 T 0.75 0.021 N 0.013 0.007 -0.918 0.458 T 0.003 0.010 T . . . -0.846 0.038 0.034 0.779 0.117 0.000 0.003 N c -1.764 -1.762 0.999 0.377 0.581 0.326 0 -1.34 0.086 -1.158 0.032 -3.842 0.001 0.000 0.063 0.000 0.016 8.014 0.294 . . . 0.0088 0.0022 0.0068 0.0011 0.0011 0.0036 0.0147 0.0071 0.0044 0.0081 0.0030 0.0084 0 0.0012 0.0046 0.0130 0.0041 het 791.41 70 7 157931003 . C T 791.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.576;DP=70;Dels=0.00;FS=2.482;HRun=0;HaplotypeScore=2.3913;MQ=59.04;MQ0=0;MQRankSum=-0.788;QD=11.31;ReadPosRankSum=-2.007;VQSLOD=5.2367;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:821,0,1066 7 157931119 157931119 A G exonic PTPRN2 synonymous SNV PTPRN2:NM_001308267:exon6:c.T885C:p.A295A,PTPRN2:NM_130842:exon6:c.T948C:p.A316A,PTPRN2:NM_001308268:exon7:c.T1068C:p.A356A,PTPRN2:NM_002847:exon7:c.T999C:p.A333A,PTPRN2:NM_130843:exon7:c.T999C:p.A333A 0.38 0.45 0.44 0.47 0.29 0.24 0.3423 0.4505 0.5224 0.5118 0.2859 0.2945 0.3241 0.2754 0.35 0.45 0.3 0.42 0.39 rs1130500 COSM3762541;COSM3762540 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3485 0.4505 0.5104 0.3416 0.5014 0.2965 0.2931 0.3299 0.2796 0.3560 0.4467 0.4726 0.3255 0.5087 0.3058 0.2965 0.2969 het 2055.09 177 7 157931119 . A G 2055.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.851;DP=177;Dels=0.00;FS=7.808;HRun=1;HaplotypeScore=1.5983;MQ=59.66;MQ0=0;MQRankSum=1.874;QD=11.61;ReadPosRankSum=1.221;VQSLOD=4.3118;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:96,81:177:99:2085,0,2624 7 157931144 157931144 C T exonic PTPRN2 nonsynonymous SNV PTPRN2:NM_001308267:exon6:c.G860A:p.S287N,PTPRN2:NM_130842:exon6:c.G923A:p.S308N,PTPRN2:NM_001308268:exon7:c.G1043A:p.S348N,PTPRN2:NM_002847:exon7:c.G974A:p.S325N,PTPRN2:NM_130843:exon7:c.G974A:p.S325N 0.38 0.44 0.44 0.47 0.29 0.24 0.3414 0.4416 0.5221 0.5119 0.2861 0.2944 0.3215 0.2750 0.34 0.44 0.3 0.42 0.39 rs1130499 . . . . . . . . . . . . . 0.177 0.255 T 0.017 0.163 B 0.022 0.184 B . . . 1 0.090 P 0.695 0.181 N 3.98 0.033 T -1.43 0.364 N 0.008 0.004 -0.997 0.308 T 0.000 0.000 T . . . 1.545 0.248 13.56 0.974 0.332 0.027 0.073 N c -0.893 -0.930 0.624 0.219 0.646 0.450 0 2.21 0.269 0.663 0.246 0.850 0.350 0.001 0.137 0.003 0.074 4.389 0.107 . . . 0.3478 0.4415 0.5102 0.3358 0.5016 0.2962 0.2933 0.3295 0.2788 0.3531 0.4380 0.4726 0.3221 0.5056 0.3060 0.2959 0.2996 het 2120.19 167 7 157931144 . C T 2120.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.313;DP=167;Dels=0.00;FS=4.540;HRun=1;HaplotypeScore=4.9950;MQ=59.64;MQ0=0;MQRankSum=0.349;QD=12.70;ReadPosRankSum=2.042;VQSLOD=4.5150;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,82:167:99:2150,0,2395 7 157959911 157959911 A G exonic PTPRN2 nonsynonymous SNV PTPRN2:NM_001308267:exon5:c.T508C:p.S170P,PTPRN2:NM_130842:exon5:c.T571C:p.S191P,PTPRN2:NM_001308268:exon6:c.T691C:p.S231P,PTPRN2:NM_002847:exon6:c.T622C:p.S208P,PTPRN2:NM_130843:exon6:c.T622C:p.S208P 0.87 0.92 0.9 0.87 0.86 0.8 0.8561 0.9077 0.9303 0.9169 0.8627 0.8430 0.8565 0.7897 0.86 0.9 0.84 0.88 0.84 rs1130495 COSM3762542 1(large_intestine) . . . . . . . . . . . 0.509 0.075 T 0.0 0.026 B 0.0 0.040 B 0.916 0.085 N 1 0.090 P -0.695 0.019 N 3.93 0.035 T 0.32 0.042 N 0.014 0.069 -1.030 0.204 T 0.000 0.000 T . . . -1.940 0.009 0.001 0.819 0.134 0.003 0.018 N c -1.730 -1.814 1.000 0.473 0.615 0.372 0 -9.18 0.006 -0.780 0.047 -0.307 0.079 0.000 0.063 0.001 0.043 2.831 0.051 . . . 0.8588 0.9053 0.9255 0.8786 0.9136 0.8592 0.8413 0.8596 0.7878 0.8742 0.9007 0.9115 0.83 0.9140 0.8649 0.8557 0.8691 hom 3030.91 95 7 157959911 . A G 3030.91 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8490;MQ=59.30;MQ0=0;QD=31.90;VQSLOD=8.8114;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3064,241,0 7 157985149 157985149 C G exonic PTPRN2 nonsynonymous SNV PTPRN2:NM_001308267:exon4:c.G305C:p.S102T,PTPRN2:NM_130842:exon4:c.G368C:p.S123T,PTPRN2:NM_001308268:exon5:c.G488C:p.S163T,PTPRN2:NM_002847:exon5:c.G419C:p.S140T,PTPRN2:NM_130843:exon5:c.G419C:p.S140T 0.24 0.38 0.19 0.19 0.17 0.23 0.1937 0.3517 0.2092 0.2149 0.1541 0.1553 0.1888 0.2435 0.21 0.34 0.15 0.26 0.11 rs3800855 . . . . . . . . . . . . . 0.316 0.203 T 0.001 0.067 B 0.004 0.093 B . . . 1 0.090 P 1.7 0.440 L 3.9 0.035 T -1.12 0.309 N 0.039 0.061 -0.943 0.422 T 0.000 0.000 T . . . 0.071 0.100 3.300 0.709 0.091 0.019 0.057 N c -1.199 -1.214 0.000 0.054 0.615 0.372 0 1.36 0.210 -0.571 0.059 -0.016 0.131 0.000 0.063 0.000 0.016 3.804 0.082 . . . 0.1934 0.3577 0.2152 0.2326 0.2186 0.1587 0.1521 0.1897 0.2538 0.2055 0.3364 0.2010 0.1954 0.2114 0.1610 0.1414 0.1769 het 1289.15 121 7 157985149 . C G 1289.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=121;Dels=0.00;FS=2.368;HRun=0;HaplotypeScore=5.2249;MQ=58.46;MQ0=0;MQRankSum=0.470;QD=10.65;ReadPosRankSum=-0.671;VQSLOD=4.8891;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,53:121:99:1319,0,1847 7 158473458 158473458 C T exonic NCAPG2 synonymous SNV NCAPG2:NM_001281933:exon10:c.G975A:p.E325E,NCAPG2:NM_017760:exon10:c.G975A:p.E325E,NCAPG2:NM_001281932:exon11:c.G975A:p.E325E 0.012 0.0053 0.0029 0.018 . 0.036 0.0074 0.0056 0.0028 0.0141 0 0.0003 0.0033 0.0399 0.0018 0.0052 0.0002 0.011 . rs182403876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0063 0.0052 0.0025 0.0024 0.0131 0 0.0002 0.0036 0.0365 0.0028 0.0065 0.0024 0 0.0148 0 0.0001 0.0020 het 663.68 75 7 158473458 . C T 663.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.265;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;MQRankSum=-0.438;QD=8.85;ReadPosRankSum=-2.039;VQSLOD=3.7241;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,30:75:99:694,0,1102 7 158528233 158528233 A G exonic ESYT2 synonymous SNV ESYT2:NM_020728:exon20:c.T2547C:p.S849S 0.35 0.44 0.18 0.6 0.17 0.29 0.2364 0.3881 0.2046 0.5876 0.2000 0.1724 0.2373 0.2527 0.24 0.37 0.17 0.28 0.19 rs3816462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2283 0.3865 0.1935 0.2133 0.5947 0.1909 0.1642 0.2134 0.2486 0.2546 0.3738 0.1950 0.2450 0.6296 0.1975 0.1646 0.2108 het 2591.49 234 7 158528233 . A G 2591.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.125;DP=234;DS;Dels=0.00;FS=4.548;HRun=0;HaplotypeScore=6.7377;MQ=58.50;MQ0=0;MQRankSum=0.600;QD=11.07;ReadPosRankSum=0.261;VQSLOD=4.8484;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:131,102:234:99:2621,0,3436 7 158534372 158534372 G A exonic ESYT2 synonymous SNV ESYT2:NM_020728:exon17:c.C2091T:p.A697A 0.32 0.36 0.18 0.58 0.17 0.26 0.2169 0.3242 0.1952 0.5686 0.1971 0.1575 0.2173 0.2297 0.21 0.31 0.16 0.24 0.16 rs57686648 COSM4162063;COSM4909391 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2138 0.3200 0.1874 0.2249 0.5757 0.1897 0.1514 0.2021 0.2298 0.2255 0.3050 0.1818 0.2483 0.6075 0.1961 0.1496 0.1973 het 937.34 53 7 158534372 . G A 937.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.854;DP=53;Dels=0.00;FS=4.010;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=0.533;QD=17.69;ReadPosRankSum=-0.208;VQSLOD=5.2288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,31:53:99:967,0,574 7 158534381 158534381 G C exonic ESYT2 synonymous SNV ESYT2:NM_020728:exon17:c.C2082G:p.P694P 0.34 0.41 0.19 0.58 0.17 0.28 0.2269 0.3608 0.1993 0.5721 0.1983 0.1644 0.2284 0.2466 0.22 0.34 0.16 0.28 0.16 rs59980573 COSM4162064;COSM4909385 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2223 0.3581 0.1911 0.2266 0.5791 0.1925 0.1579 0.2087 0.2460 0.2388 0.3419 0.1847 0.2517 0.6100 0.1979 0.1544 0.2045 het 896.15 57 7 158534381 . G C 896.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.549;DP=57;Dels=0.00;FS=1.044;HRun=0;HaplotypeScore=1.9258;MQ=60.00;MQ0=0;MQRankSum=-1.449;QD=15.72;ReadPosRankSum=-0.500;VQSLOD=5.0340;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,33:57:99:926,0,593 7 158540921 158540921 G A exonic ESYT2 synonymous SNV ESYT2:NM_020728:exon15:c.C1689T:p.F563F 0.0004 . . . 0.002 . 0.0007 0 0.0003 0 0.0021 0.0010 0 0 0.0008 0.0002 0.0012 . . rs148822238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0007 0.0001 0.0001 0 0 0.0022 0.0010 0.0011 0 0.0009 0 0 0 0 0.0040 0.0009 0 het 981.74 94 7 158540921 . G A 981.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.937;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7128;MQ=59.14;MQ0=0;MQRankSum=2.057;QD=10.44;ReadPosRankSum=-0.645;VQSLOD=4.3695;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,43:94:99:1012,0,1280 7 158672405 158672405 C G exonic WDR60 nonsynonymous SNV WDR60:NM_001350914:exon5:c.C466G:p.L156V,WDR60:NM_018051:exon5:c.C604G:p.L202V 0.0096 0.034 0.0043 . . . 0.0030 0.0312 0.0030 0 0 0.0002 0.0011 6.795e-05 0.0086 0.026 0.0004 0.011 . rs73527702 . . . . . . . . . . . . . 0.206 0.199 T 0.603 0.375 P 0.232 0.366 B 0.752 0.065 N 1 0.090 N . . . 1.86 0.243 T -1.16 0.297 N 0.059 0.043 -1.025 0.220 T 0.014 0.057 T . . . 2.321 0.340 18.31 0.952 0.257 0.035 0.085 N c -0.579 -0.607 0.002 0.093 0.732 0.924 0 1.65 0.229 0.542 0.228 0.928 0.438 0.021 0.196 0.383 0.251 6.754 0.225 . . . 0.0028 0.0315 0.0045 0.0004 0 0 0.0003 0.0021 3.416e-05 0.0091 0.0312 0.0072 0.0033 0 0 6.677e-05 0.0010 het 248.47 36 7 158672405 . C G 248.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.064;DP=36;Dels=0.00;FS=7.847;HRun=0;HaplotypeScore=3.4485;MQ=58.71;MQ0=0;MQRankSum=-0.688;QD=6.90;ReadPosRankSum=-0.487;VQSLOD=2.6556;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,12:36:99:278,0,671 7 158672476 158672476 C G exonic WDR60 nonsynonymous SNV WDR60:NM_001350914:exon5:c.C537G:p.N179K,WDR60:NM_001350915:exon5:c.C158G:p.T53R,WDR60:NM_018051:exon5:c.C675G:p.N225K 1. 1. 1. 1. 0.99 0.99 0.9920 0.9983 0.9982 1 0.9965 0.9893 0.9888 0.9887 0.99 1. 0.99 1. . rs2709859 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.833 0.070 N 1 0.090 P . . . 2.12 0.197 T 1.77 0.005 N 0.019 0.004 -1.012 0.262 T 0.000 0.000 T . . . -0.445 0.059 0.301 0.229 0.009 0.000 0.004 N c -1.277 -1.180 0.004 0.102 0.732 0.924 0 2.63 0.303 1.077 0.301 -0.295 0.082 0.075 0.220 0.002 0.062 7.655 0.274 . . . 0.9919 0.9978 0.9971 0.9952 1 0.9974 0.9880 0.9899 0.9880 0.9932 0.9976 0.9988 1 1 0.9971 0.9885 0.9929 hom 974.52 30 7 158672476 . C G 974.52 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.48;VQSLOD=13.3939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:81.25:1008,81,0 7 158672619 158672619 A G exonic WDR60 nonsynonymous SNV WDR60:NM_001350914:exon5:c.A680G:p.Q227R,WDR60:NM_001350915:exon5:c.A301G:p.K101E,WDR60:NM_018051:exon5:c.A818G:p.Q273R 0.57 0.74 0.43 0.72 0.38 0.5 0.4410 0.6821 0.4228 0.7098 0.3729 0.3627 0.4449 0.5151 0.46 0.65 0.37 0.61 . rs2788478 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.429 0.128 N 1 0.090 P . . . 2.24 0.179 T 1.45 0.008 N 0.047 0.028 -0.973 0.365 T 0.000 0.000 T . . . -1.898 0.009 0.002 0.122 0.002 0.000 0.004 N c -1.560 -1.497 0.228 0.184 0.707 0.730 0 0.795 0.177 0.177 0.165 -0.736 0.035 0.000 0.063 0.000 0.016 5.015 0.136 . ENSG00000126870.11|ENSG00000126870.11|ENSG00000126870.11|ENSG00000126870.11|ENSG00000126870.11|ENSG00000126870.11|ENSG00000126870.11|ENSG00000126870.11|ENSG00000126870.11|ENSG00000126870.11|ENSG00000126870.11|ENSG00000117868.11 Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Testis|Thyroid|Whole_Blood 0.4385 0.6873 0.4271 0.3504 0.7121 0.3778 0.3657 0.4212 0.5154 0.4771 0.6801 0.4103 0.3609 0.7348 0.3815 0.3642 0.4083 het 1309.21 184 7 158672619 . A G 1309.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.392;DP=184;Dels=0.00;FS=1.951;HRun=0;HaplotypeScore=1.9155;MQ=59.06;MQ0=0;MQRankSum=0.931;QD=7.12;ReadPosRankSum=-0.250;VQSLOD=5.9893;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:118,66:184:99:1339,0,3061 7 158715219 158715219 A G exonic WDR60 synonymous SNV WDR60:NM_001350915:exon15:c.A1500G:p.K500K,WDR60:NM_001350916:exon15:c.A612G:p.K204K,WDR60:NM_001350914:exon16:c.A1935G:p.K645K,WDR60:NM_018051:exon16:c.A2073G:p.K691K,WDR60:NM_001350917:exon17:c.A825G:p.K275K,WDR60:NM_001350918:exon18:c.A825G:p.K275K 0.89 0.91 0.91 0.95 0.81 0.85 0.8419 0.8982 0.9280 0.9480 0.8179 0.8185 0.8033 0.7988 0.85 0.91 0.82 0.89 . rs2730238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8440 0.8974 0.9240 0.8452 0.9508 0.8142 0.8149 0.8413 0.7974 0.8458 0.8917 0.9069 0.8411 0.9598 0.8061 0.8140 0.8265 hom 1493.25 45 7 158715219 . A G 1493.25 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=33.18;VQSLOD=9.9516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1526,120,0 7 158734813 158734813 C T exonic WDR60 synonymous SNV WDR60:NM_001350915:exon23:c.C2403T:p.V801V,WDR60:NM_001350916:exon23:c.C1515T:p.V505V,WDR60:NM_001350914:exon24:c.C2838T:p.V946V,WDR60:NM_018051:exon24:c.C2976T:p.V992V,WDR60:NM_001350917:exon25:c.C1728T:p.V576V,WDR60:NM_001350918:exon26:c.C1728T:p.V576V 0.11 0.18 0.11 . 0.18 0.07 0.1477 0.1802 0.0724 0.0005 0.2246 0.1803 0.1559 0.0719 0.17 0.17 0.17 0.12 . rs34634437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1400 0.1735 0.0779 0.0946 0.0004 0.2303 0.1797 0.1530 0.0688 0.1704 0.1753 0.0827 0.1060 0 0.2188 0.1807 0.1741 het 797.70 77 7 158734813 . C T 797.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.111;DP=77;Dels=0.00;FS=1.944;HRun=1;HaplotypeScore=2.6311;MQ=58.03;MQ0=0;MQRankSum=1.463;QD=10.36;ReadPosRankSum=0.098;VQSLOD=5.0944;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,32:77:99:828,0,1045 7 158851234 158851234 T G exonic VIPR2 synonymous SNV VIPR2:NM_001308259:exon2:c.A345C:p.T115T,VIPR2:NM_003382:exon5:c.A393C:p.T131T 0.84 0.52 0.93 1. 0.94 0.93 0.9061 0.5907 0.9508 0.9994 0.9607 0.9262 0.9262 0.9204 0.81 0.6 0.92 0.84 0.91 rs2098349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9139 0.5870 0.9479 0.9428 0.9997 0.9567 0.9218 0.9213 0.9206 0.8365 0.5866 0.9391 0.9470 1 0.9605 0.9215 0.9214 het 2649.03 188 7 158851234 . T G 2649.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.463;DP=188;DS;Dels=0.00;FS=1.170;HRun=1;HaplotypeScore=4.5013;MQ=59.70;MQ0=0;MQRankSum=1.790;QD=14.09;ReadPosRankSum=0.895;VQSLOD=5.2634;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,102:188:99:2679,0,2244 7 158896517 158896517 G A exonic VIPR2 synonymous SNV VIPR2:NM_001304522:exon4:c.C288T:p.D96D,VIPR2:NM_003382:exon4:c.C288T:p.D96D 0.24 0.32 0.19 0.2 0.25 0.21 0.2385 0.3072 0.1945 0.2002 0.2838 0.2329 0.2373 0.2505 0.26 0.3 0.23 0.27 0.25 rs2270313 COSM4419101 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2343 0.3084 0.1918 0.1956 0.1963 0.2864 0.2328 0.2187 0.2477 0.2595 0.3069 0.1778 0.1788 0.1768 0.2847 0.2412 0.2582 het 2240.12 194 7 158896517 . G A 2240.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.749;DP=194;DS;Dels=0.00;FS=5.602;HRun=0;HaplotypeScore=6.6971;MQ=58.99;MQ0=0;MQRankSum=0.604;QD=11.55;ReadPosRankSum=2.178;VQSLOD=3.9236;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:105,89:194:99:2270,0,2651 8 381344 381344 C G exonic FBXO25 nonsynonymous SNV FBXO25:NM_183420:exon3:c.C138G:p.I46M,FBXO25:NM_183421:exon3:c.C138G:p.I46M 0.17 0.1 0.14 0.29 0.14 0.19 0.1505 0.1195 0.1246 0.2338 0.1232 0.1487 0.1708 0.1600 0.14 0.11 0.15 0.16 0.082 rs28438773 COSM3763335 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.207 0.461 T 0.021 0.172 B 0.019 0.176 B 0.055 0.227 N 0.741 0.588 P 1.5 0.380 L 1.64 0.278 T -0.06 0.079 N 0.096 0.152 -1.004 0.286 T 0.000 0.000 T . . . 1.606 0.255 13.89 0.963 0.288 0.453 0.273 N c -0.450 -0.311 0.000 0.035 0.706 0.609 0 2.29 0.275 0.418 0.208 0.935 0.490 0.984 0.356 1.000 0.888 3.344 0.067 . ENSG00000272293.1|ENSG00000272293.1|ENSG00000272293.1|ENSG00000147364.12|ENSG00000272293.1 Breast_Mammary_Tissue|Esophagus_Muscularis|Lung|Testis|Thyroid 0.1447 0.1109 0.1205 0.1216 0.2248 0.1219 0.1472 0.1448 0.1563 0.1436 0.1179 0.1420 0.1225 0.2466 0.1226 0.1540 0.1286 het 882.40 56 8 381344 . C G 882.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.865;DP=56;Dels=0.00;FS=1.688;HRun=0;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;MQRankSum=2.883;QD=15.76;ReadPosRankSum=-0.386;VQSLOD=3.7548;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,30:56:99:912,0,731 8 618728 618728 A G exonic ERICH1 synonymous SNV ERICH1:NM_001303100:exon5:c.T1128C:p.L376L,ERICH1:NM_207332:exon5:c.T1128C:p.L376L . . . . . . 0.8789 0.8078 0.8421 0.9470 0.8469 0.8773 0.8918 0.9325 0.85 0.81 0.87 0.72 0.93 rs2271263 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8779 0.8075 0.8413 0.8946 0.9455 0.8486 0.8773 0.8788 0.9327 0.8556 0.8027 0.8496 0.9007 0.9353 0.8469 0.8780 0.8724 hom 3287.71 104 8 618728 . A G 3287.71 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=58.57;MQ0=0;QD=31.61;VQSLOD=9.1130;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3287,274,0 8 1616718 1616718 A G exonic DLGAP2 synonymous SNV DLGAP2:NM_001346810:exon9:c.A2034G:p.E678E 0.53 0.78 0.46 0.56 0.26 0.51 0.4431 0.7266 0.5989 0.6453 0.3484 0.3356 0.456 0.4986 0.39 0.67 0.26 0.7 . rs2235112 COSM5983083;COSM5983084 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3872 0.7110 0.5249 0.3426 0.5961 0.2792 0.2700 0.3691 0.4699 0.4112 0.7024 0.4749 0.3576 0.6185 0.2867 0.2504 0.3439 het 161.24 10 8 1616718 . A G 161.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.447;QD=16.12;ReadPosRankSum=0.365;VQSLOD=12.2401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,6:10:59.26:191,0,59 8 1853871 1853871 C T exonic ARHGEF10 synonymous SNV ARHGEF10:NM_001308152:exon16:c.C1842T:p.T614T,ARHGEF10:NM_014629:exon17:c.C1956T:p.T652T,ARHGEF10:NM_001308153:exon18:c.C2028T:p.T676T 0.0002 . . 0.001 . . 5.769e-05 0 0 0.0001 0.0002 7.496e-05 0 0 . . . . . rs200487137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.882e-05 6.535e-05 0 0 5.798e-05 4.576e-05 7.163e-05 0.0002 0 3.229e-05 0 0 0 0 0 6.662e-05 0 het 1791.43 125 8 1853871 . C T 1791.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.567;DP=125;Dels=0.00;FS=6.213;HRun=0;HaplotypeScore=6.1971;MQ=59.28;MQ0=0;MQRankSum=1.383;QD=14.33;ReadPosRankSum=-1.671;VQSLOD=2.5021;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,69:125:99:1821,0,1378 8 2037874 2037874 C T exonic MYOM2 nonsynonymous SNV MYOM2:NM_003970:exon15:c.C1688T:p.T563M 0.0018 . . . 0.004 0.0051 0.0028 0.0014 0.0007 0 0.0058 0.0039 0.0022 0.0013 0.003 0.0009 0.0041 . . rs61732774 . . . . . . . . . . . . . 0.279 0.155 T 0.06 0.217 B 0.031 0.206 B 0.048 0.233 N 0.699 0.334 D 1.325 0.333 L 0.64 0.529 T -0.06 0.079 N 0.518 0.560 -1.008 0.274 T 0.066 0.272 T 0.014 0.348 T 1.063 0.196 11.01 0.871 0.164 0.142 0.181 N c -0.716 -0.716 1.000 0.448 0.500 0.196 0 0.766 0.175 0.879 0.276 0.935 0.490 0.270 0.248 0.023 0.138 8.727 0.335 Fibronectin type III|Immunoglobulin-like fold . . 0.0027 0.0011 0.0012 0.0006 0 0.0051 0.0040 0.0016 0.0013 0.0047 0.0022 0.0024 0 0 0.0037 0.0068 0.0081 het 1169.47 85 8 2037874 . C T 1169.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.376;DP=85;Dels=0.00;FS=0.838;HRun=0;HaplotypeScore=0.9867;MQ=59.73;MQ0=0;MQRankSum=-0.585;QD=13.76;ReadPosRankSum=-2.317;VQSLOD=4.9267;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,44:85:99:1199,0,1116 8 2040298 2040298 C T exonic MYOM2 synonymous SNV MYOM2:NM_003970:exon16:c.C1953T:p.A651A 0.14 0.12 0.073 0.15 0.16 0.17 0.1561 0.1092 0.1290 0.1759 0.1771 0.1684 0.1465 0.1368 0.14 0.11 0.16 0.16 0.074 rs2235122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1527 0.1091 0.1258 0.1956 0.1745 0.1729 0.1616 0.1479 0.1313 0.1542 0.1119 0.1062 0.1987 0.1858 0.1774 0.1712 0.1629 het 1674.98 125 8 2040298 . C T 1674.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.501;DP=125;DS;Dels=0.00;FS=1.696;HRun=0;HaplotypeScore=4.6862;MQ=59.48;MQ0=0;MQRankSum=0.533;QD=13.40;ReadPosRankSum=1.335;VQSLOD=5.5871;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,59:125:99:1705,0,1594 8 2040337 2040337 T C exonic MYOM2 synonymous SNV MYOM2:NM_003970:exon16:c.T1992C:p.I664I 0.98 0.94 1. 1. 1. 1. 0.9956 0.9530 0.9973 1 1 0.9999 0.9989 1 0.98 0.95 1. 0.97 0.92 rs6420202 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9510 0.9966 1 1 1.0000 0.9999 0.9982 0.9999 0.9860 0.9515 0.9928 1 1 1 1 0.9959 hom 2506.88 85 8 2040337 . T C 2506.88 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6281;MQ=59.46;MQ0=0;QD=29.49;VQSLOD=8.7099;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2540,229,0 8 2048811 2048811 A C exonic MYOM2 synonymous SNV MYOM2:NM_003970:exon20:c.A2586C:p.V862V 0.95 0.83 0.99 1. 1. 1. 0.9874 0.8633 0.9930 1 1 0.9997 0.9945 0.9999 0.96 0.87 1. 0.9 0.98 rs4876227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9900 0.8585 0.9934 0.9984 1 1 0.9997 0.9951 0.9998 0.9584 0.8541 0.9940 0.9967 1 1 0.9997 0.9908 hom 3601.02 118 8 2048811 . A C 3601.02 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6809;MQ=59.29;MQ0=0;QD=30.52;VQSLOD=9.3146;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3601,274,0 8 2808730 2808730 T A exonic CSMD1 nonsynonymous SNV CSMD1:NM_033225:exon66:c.A10107T:p.Q3369H 0.021 . 0.033 . 0.073 0.011 0.0689 0.0153 0.0260 0 0.1600 0.0959 0.0928 0.0212 0.056 0.015 0.076 0.043 . rs34337712 . . . . . . . . . . . . . 0.027 0.465 D 0.0 0.172 B 0.001 0.198 B 0.000 0.441 D 0.974 0.391 D 1.45 0.368 L 1.53 0.304 T -3.41 0.700 D 0.231 0.283 -0.956 0.400 T 0.009 0.031 T . . . 0.490 0.141 7.356 0.923 0.211 0.476 0.278 N c -0.830 -0.967 0.022 0.134 0.487 0.133 0 -7.9 0.010 -0.064 0.115 -0.720 0.036 0.801 0.295 0.330 0.242 7.293 0.254 . . . 0.0565 0.0112 0.0217 0.0285 0.0001 0.1216 0.0830 0.0559 0.0185 0.0697 0.0127 0.0289 0.0420 0 0.1145 0.1018 0.0885 het 344.99 24 8 2808730 . T A 344.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.983;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.00;MQ0=0;MQRankSum=-0.609;QD=14.37;ReadPosRankSum=-1.826;VQSLOD=5.5763;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,14:24:99:375,0,171 8 2832139 2832139 C G exonic CSMD1 synonymous SNV CSMD1:NM_033225:exon56:c.G8574C:p.S2858S 0.75 0.73 0.66 0.8 0.82 0.72 0.7934 0.7706 0.6729 0.8312 0.8645 0.8152 0.8103 0.7448 0.8 0.77 0.81 0.76 . rs667595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7843 0.7539 0.6688 0.8138 0.8234 0.8694 0.8115 0.7857 0.7323 0.8082 0.7435 0.6746 0.8046 0.8278 0.8689 0.8354 0.8337 hom 943.59 34 8 2832139 . C G 943.59 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.208;DP=34;Dels=0.00;FS=3.212;HRun=1;HaplotypeScore=0.8667;MQ=58.90;MQ0=0;MQRankSum=0.037;QD=27.75;ReadPosRankSum=-1.354;VQSLOD=3.4994;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,32:34:39.48:977,39,0 8 2909992 2909992 G A exonic CSMD1 nonsynonymous SNV CSMD1:NM_033225:exon50:c.C7652T:p.T2551M 0.69 0.58 0.62 0.79 0.79 0.71 0.7664 0.6562 0.6868 0.8239 0.8552 0.7857 0.7426 0.7389 0.73 0.65 0.77 0.64 . rs6558702 . . . . . . . . . . . . . 0.238 0.224 T 0.702 0.399 P 0.206 0.354 B 0.154 0.179 N 1 0.090 P . . . -0.26 0.672 T -0.49 0.156 N 0.204 0.250 -0.979 0.352 T 0.000 0.000 T . . . 0.865 0.176 9.858 0.595 0.061 0.049 0.105 N c -0.761 -0.808 0.000 0.070 0.487 0.133 0 3.46 0.386 0.428 0.210 0.112 0.206 0.000 0.063 0.000 0.016 1.954 0.031 Sushi/SCR/CCP domain . . 0.7399 0.6080 0.6291 0.7368 0.8083 0.8467 0.7657 0.7216 0.7240 0.7396 0.6234 0.5995 0.7616 0.8194 0.8506 0.7765 0.7929 het 198.28 15 8 2909992 . G A 198.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.365;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=57.47;MQ0=0;MQRankSum=-0.965;QD=13.22;ReadPosRankSum=-1.109;VQSLOD=5.7614;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:228,0,146 8 2910020 2910020 A G exonic CSMD1 synonymous SNV CSMD1:NM_033225:exon50:c.T7624C:p.L2542L 0.98 0.94 0.99 1. 1. 1. 0.9940 0.9349 0.9958 0.9998 1 0.9999 0.9971 0.9999 0.98 0.95 1. 0.98 . rs6558703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9955 0.9342 0.9974 0.9999 0.9999 1 0.9998 0.9976 0.9999 0.9824 0.9384 0.9964 1 1 1 0.9999 0.9969 hom 606.93 19 8 2910020 . A G 606.93 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;QD=31.94;VQSLOD=8.6017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:51.16:640,51,0 8 2965244 2965244 T C exonic CSMD1 synonymous SNV CSMD1:NM_033225:exon45:c.A6831G:p.E2277E 0.84 0.74 0.85 0.95 0.8 0.91 0.8314 0.7426 0.9095 0.9620 0.8079 0.8044 0.8330 0.8792 0.79 0.75 0.81 0.86 . rs3824271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8284 0.7367 0.8928 0.8298 0.9585 0.7996 0.7987 0.8177 0.8746 0.8040 0.7371 0.8687 0.8245 0.9549 0.8002 0.8213 0.8378 hom 3565.12 116 8 2965244 . T C 3565.12 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=57.32;MQ0=0;QD=30.73;VQSLOD=7.2881;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3565,277,0 8 3265590 3265590 C T exonic CSMD1 synonymous SNV CSMD1:NM_033225:exon14:c.G1902A:p.Q634Q 0.6 0.7 0.65 0.34 0.67 0.64 0.6319 0.6883 0.5560 0.3647 0.6566 0.6629 0.6514 0.6544 0.67 0.68 0.67 0.63 . rs10088378 COSM4783700;COSM3763327;COSM3763325;COSM3763326 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6300 0.6883 0.5710 0.6546 0.3686 0.6497 0.6663 0.6528 0.6542 0.6493 0.6806 0.5935 0.5993 0.3736 0.6663 0.6596 0.6708 het 1431.07 119 8 3265590 . C T 1431.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.929;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=59.18;MQ0=0;MQRankSum=-0.408;QD=12.03;ReadPosRankSum=-0.179;VQSLOD=6.6630;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,54:119:99:1461,0,1765 8 6272399 6272399 G T exonic MCPH1 synonymous SNV MCPH1:NM_001172574:exon3:c.G228T:p.V76V,MCPH1:NM_001172575:exon3:c.G228T:p.V76V,MCPH1:NM_001322042:exon3:c.G228T:p.V76V,MCPH1:NM_001322043:exon3:c.G222T:p.V74V,MCPH1:NM_001322045:exon3:c.G126T:p.V42V,MCPH1:NM_024596:exon3:c.G228T:p.V76V 0.68 0.38 0.83 0.78 0.79 0.76 0.7719 0.4386 0.8662 0.7917 0.8939 0.7973 0.7978 0.7402 0.7 0.47 0.8 0.6 0.7 rs2305022 . . other|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000146307.2|RCV000373167.1 MedGen|MedGen CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7795 0.4260 0.8578 0.6901 0.7856 0.8939 0.7985 0.7886 0.7410 0.7172 0.4414 0.8189 0.6954 0.7833 0.8881 0.8188 0.8033 hom 2307.10 79 8 6272399 . G T 2307.10 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=29.20;VQSLOD=8.7448;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2340,181,0 8 6296550 6296550 G T exonic MCPH1 nonsynonymous SNV MCPH1:NM_001172574:exon6:c.G513T:p.R171S,MCPH1:NM_001322042:exon6:c.G513T:p.R171S,MCPH1:NM_001322043:exon6:c.G507T:p.R169S,MCPH1:NM_001322045:exon6:c.G411T:p.R137S,MCPH1:NM_024596:exon6:c.G513T:p.R171S 0.92 0.74 0.98 0.99 0.99 0.97 0.9662 0.7779 0.9872 0.9883 0.9879 0.9874 0.98 0.9564 0.93 0.8 0.98 0.88 0.89 rs2442513 . . Benign not_specified RCV000194980.2 MedGen CN169374 . . . . . . 0.857 0.045 T 0.0 0.026 B 0.0 0.013 B 0.631 0.058 N 1 0.090 P -1.355 0.007 N 3.78 0.053 T 1.0 0.014 N 0.027 0.075 -1.032 0.197 T 0.000 0.000 T . . . -1.150 0.027 0.008 0.443 0.034 0.002 0.012 N c -1.749 -1.750 1.000 0.500 0.722 0.854 0 -4.59 0.031 -0.351 0.077 0.011 0.139 0.000 0.063 0.012 0.117 5.881 0.180 . . . 0.9687 0.7714 0.9839 0.9796 0.9888 0.9888 0.9867 0.9773 0.9545 0.9276 0.7806 0.9797 0.9768 0.9889 0.9865 0.9859 0.9695 hom 2061.83 70 8 6296550 . G T 2061.83 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.683;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8628;MQ=57.91;MQ0=0;MQRankSum=1.683;QD=29.45;ReadPosRankSum=1.534;VQSLOD=5.8577;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,69:70:99:2095,153,0 8 6302183 6302183 G C exonic MCPH1 nonsynonymous SNV MCPH1:NM_001172575:exon7:c.G796C:p.D266H,MCPH1:NM_001172574:exon8:c.G940C:p.D314H,MCPH1:NM_001322042:exon8:c.G940C:p.D314H,MCPH1:NM_001322043:exon8:c.G934C:p.D312H,MCPH1:NM_001322045:exon8:c.G838C:p.D280H,MCPH1:NM_024596:exon8:c.G940C:p.D314H 0.64 0.25 0.83 0.76 0.8 0.78 0.7714 0.3278 0.8665 0.7933 0.8846 0.8092 0.8174 0.7532 0.68 0.37 0.81 0.55 0.68 rs930557 COSM5655105 1(haematopoietic_and_lymphoid_tissue) Benign|other|Benign Primary_autosomal_recessive_microcephaly_1|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020903.1|RCV000146337.2|RCV000353105.1 MedGen:OMIM:Orphanet|MedGen|MedGen C1855081:251200:ORPHA52183|CN169374|CN239428 . . . . . . 0.056 0.416 T 1.0 0.899 D 0.992 0.790 D 0.492 0.120 N 1 0.090 P 2.125 0.592 M 2.69 0.123 T -2.3 0.551 N 0.166 0.200 -1.055 0.130 T 0.000 0.000 T . . . 3.901 0.526 23.5 0.977 0.352 0.170 0.194 N c -0.080 -0.296 0.871 0.254 0.706 0.609 0 2.68 0.307 0.257 0.180 1.048 0.713 0.000 0.063 0.032 0.149 8.507 0.322 . ENSG00000246089.3|ENSG00000246089.3|ENSG00000246089.3|ENSG00000246089.3|ENSG00000246089.3|ENSG00000246089.3 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Spleen|Testis|Whole_Blood 0.7809 0.3201 0.8574 0.6889 0.7903 0.8881 0.8126 0.7921 0.7546 0.6908 0.3336 0.8222 0.6933 0.7984 0.8821 0.8270 0.8092 hom 2038.21 68 8 6302183 . G C 2038.21 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3869;MQ=57.51;MQ0=0;QD=29.97;VQSLOD=6.9433;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:68:99:2071,159,0 8 6302418 6302418 A G exonic MCPH1 nonsynonymous SNV MCPH1:NM_001172575:exon7:c.A1031G:p.D344G,MCPH1:NM_001172574:exon8:c.A1175G:p.D392G,MCPH1:NM_001322042:exon8:c.A1175G:p.D392G,MCPH1:NM_001322043:exon8:c.A1169G:p.D390G,MCPH1:NM_001322045:exon8:c.A1073G:p.D358G,MCPH1:NM_024596:exon8:c.A1175G:p.D392G 0.99 0.98 1. 1. 1. 1. 0.9980 0.9759 0.9995 0.9999 1 1.0000 1 1 0.99 0.98 1. 0.99 1. rs2515569 . . other|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000082198.7|RCV000267656.1 MedGen|MedGen CN169374|CN239428 . . . . . . 0.573 0.061 T 0.0 0.026 B 0.0 0.013 B 0.000 0.005 N 1 0.090 P -1.355 0.007 N 2.99 0.093 T -0.76 0.212 N 0.083 0.077 -0.923 0.452 T 0.000 0.000 T . . . -1.735 0.012 0.002 0.319 0.018 0.004 0.018 N c -2.420 -2.469 1.000 0.747 0.707 0.730 0 -11.5 0.001 -3.713 0.004 -1.400 0.012 0.000 0.063 0.000 0.016 8.686 0.332 . . . 0.9982 0.9741 0.9990 1 0.9998 1 1.0000 1 0.9999 0.9918 0.9711 1 1 1 1 1 0.9990 hom 3096.84 99 8 6302418 . A G 3096.84 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=59.62;MQ0=0;QD=31.28;VQSLOD=9.1249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3130,238,0 8 6303025 6303025 G A exonic MCPH1 synonymous SNV MCPH1:NM_001172575:exon7:c.G1638A:p.T546T,MCPH1:NM_001172574:exon8:c.G1782A:p.T594T,MCPH1:NM_001322042:exon8:c.G1782A:p.T594T,MCPH1:NM_001322043:exon8:c.G1776A:p.T592T,MCPH1:NM_001322045:exon8:c.G1680A:p.T560T,MCPH1:NM_024596:exon8:c.G1782A:p.T594T 0.13 0.017 0.24 0.027 0.34 0.1 0.2616 0.0566 0.2819 0.0226 0.3557 0.3386 0.2826 0.1377 0.25 0.066 0.33 0.098 0.3 rs2584 . . Benign|Likely benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000146282.2|RCV000336395.1 MedGen|MedGen CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2623 0.0513 0.2807 0.2095 0.0232 0.3571 0.3415 0.2668 0.1391 0.2566 0.0630 0.2680 0.2020 0.0154 0.3471 0.3689 0.3452 hom 3509.90 116 8 6303025 . G A 3509.90 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=30.26;VQSLOD=8.9763;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3510,268,0 8 6389889 6389889 C G exonic ANGPT2 synonymous SNV ANGPT2:NM_001118887:exon2:c.G408C:p.A136A,ANGPT2:NM_001147:exon2:c.G408C:p.A136A 0.37 0.32 0.29 0.45 0.3 0.51 0.3317 0.3211 0.3651 0.4607 0.3150 0.2779 0.3057 0.4729 . . . 0.37 0.32 rs6559167 COSM3763369;COSM3763370 1(bone);1(upper_aerodigestive_tract);1(large_intestine) Likely benign\x2cLikely benign not_specified\x2cnot_specified RCV000146294.1\x2cRCV000146295.1 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3338 0.3173 0.3573 0.3147 0.4629 0.3312 0.2751 0.3069 0.4697 0.3002 0.3080 0.3353 0.32 0.4652 0.3163 0.2723 0.2908 het 1998.57 179 8 6389889 . C G 1998.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.917;DP=179;Dels=0.00;FS=3.567;HRun=1;HaplotypeScore=2.8015;MQ=59.53;MQ0=0;MQRankSum=0.531;QD=11.17;ReadPosRankSum=1.066;VQSLOD=5.3982;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,77:179:99:2029,0,2567 8 6478986 6478986 C T exonic MCPH1 synonymous SNV MCPH1:NM_001322042:exon13:c.C2226T:p.S742S,MCPH1:NM_024596:exon13:c.C2226T:p.S742S 0.45 0.34 0.35 0.68 0.41 0.49 0.4292 0.3678 0.3930 0.6719 0.4417 0.3970 0.4333 0.4893 0.37 0.35 0.39 0.49 0.35 rs2912010 COSM3763372 1(large_intestine) Benign|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000146299.4|RCV000393976.1 MedGen|MedGen CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4274 0.3659 0.3907 0.3326 0.6676 0.4381 0.4005 0.4021 0.4877 0.4154 0.3650 0.3876 0.3013 0.6557 0.4321 0.4187 0.4139 hom 3391.83 116 8 6478986 . C T 3391.83 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7452;MQ=59.16;MQ0=0;QD=29.24;VQSLOD=8.8380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:116:99:3391,271,0 8 6479042 6479042 C T exonic MCPH1 nonsynonymous SNV MCPH1:NM_001322042:exon13:c.C2282T:p.A761V,MCPH1:NM_024596:exon13:c.C2282T:p.A761V 0.48 0.45 0.36 0.67 0.41 0.48 0.4362 0.4726 0.4014 0.6661 0.4155 0.3954 0.4367 0.4921 0.41 0.44 0.39 0.58 0.36 rs1057090 COSM3763373 8(soft_tissue);1(pancreas);1(large_intestine) Benign\x2cBenign\x2cBenign|Benign|Benign not_specified\x2cnot_specified\x2cPrimary_autosomal_recessive_microcephaly_1|not_specified|Primary_Microcephaly\x2c_Recessive RCV000146303.1\x2cRCV000146304.1\x2cRCV000020900.1|RCV000146305.4|RCV000295113.1 MedGen\x2cMedGen\x2cMedGen:OMIM:Orphanet|MedGen|MedGen CN169374\x2cCN169374\x2cC1855081:251200:ORPHA52183|CN169374|CN239428 . . . . . . 1.0 0.010 T . . . . . . 0.017 0.014 N 1 0.090 P . . . -2.34 0.880 D 0.91 0.016 N 0.036 0.016 -1.003 0.289 T 0.000 0.000 T . . . 0.693 0.160 8.779 0.698 0.088 0.006 0.025 N c -1.285 -1.493 1.000 0.431 0.707 0.730 0 -8.27 0.009 -0.503 0.064 -0.286 0.084 0.000 0.063 0.024 0.140 8.909 0.345 BRCT domain . . 0.4331 0.4725 0.3976 0.3381 0.6624 0.4111 0.4011 0.4079 0.4904 0.4424 0.4784 0.3880 0.3079 0.6510 0.4015 0.4167 0.4047 hom 2670.82 87 8 6479042 . C T 2670.82 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6774;MQ=58.61;MQ0=0;QD=30.70;VQSLOD=8.1624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:87:99:2704,223,0 8 6479178 6479178 C A exonic MCPH1 synonymous SNV MCPH1:NM_001322042:exon13:c.C2418A:p.A806A,MCPH1:NM_024596:exon13:c.C2418A:p.A806A 0.39 0.43 0.29 0.44 0.36 0.4 0.3681 0.4202 0.3214 0.4309 0.3629 0.3470 0.3797 0.4239 0.36 0.41 0.34 0.5 0.32 rs2912016 COSM3763374 1(haematopoietic_and_lymphoid_tissue);1(liver);2(large_intestine) Benign|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000146313.4|RCV000297761.1 MedGen|MedGen CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3645 0.4258 0.3175 0.3019 0.4269 0.3667 0.3510 0.3505 0.4206 0.3785 0.4265 0.3254 0.2682 0.4291 0.3607 0.3560 0.3564 hom 5111.30 162 8 6479178 . C A 5111.30 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.133;DP=162;Dels=0.00;FS=3.846;HRun=1;HaplotypeScore=1.8650;MQ=59.22;MQ0=0;MQRankSum=1.668;QD=31.55;ReadPosRankSum=1.625;VQSLOD=4.3950;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,161:162:99:5077,367,0 8 6500544 6500544 C T exonic MCPH1 nonsynonymous SNV MCPH1:NM_024596:exon14:c.C2482T:p.P828S,MCPH1:NM_001322042:exon15:c.C2624T:p.P875L 0.24 0.17 0.18 0.21 0.3 0.36 0.2917 0.1854 0.1897 0.2112 0.2812 0.3126 0.31 0.3873 0.26 0.19 0.3 0.28 0.34 rs1057091 . . Benign|Benign|Likely benign Primary_autosomal_recessive_microcephaly_1|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020901.1|RCV000146321.2|RCV000361851.1 MedGen:OMIM:Orphanet|MedGen|MedGen C1855081:251200:ORPHA52183|CN169374|CN239428 . . . . . . 0.407 0.102 T 0.0 0.026 B 0.0 0.013 B 0.053 0.228 N 1 0.090 P -0.51 0.026 N -2.55 0.896 D 0.63 0.024 N 0.031 0.012 -1.034 0.190 T 0.000 0.000 T . . . -0.618 0.049 0.113 0.735 0.100 0.000 0.003 N c -1.595 -1.553 1.000 0.402 0.719 0.830 0 -1.42 0.084 0.293 0.186 -0.390 0.064 0.022 0.197 0.228 0.223 1.008 0.014 BRCT domain . . 0.2860 0.1884 0.1900 0.3043 0.2044 0.2839 0.3122 0.2831 0.3865 0.2661 0.1867 0.1974 0.3233 0.1900 0.2756 0.3180 0.3098 het 1024.68 93 8 6500544 . C T 1024.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.953;DP=93;Dels=0.00;FS=1.708;HRun=0;HaplotypeScore=1.8625;MQ=59.70;MQ0=0;MQRankSum=-1.618;QD=11.02;ReadPosRankSum=-1.796;VQSLOD=5.3646;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,40:93:99:1055,0,1441 8 6690276 6690276 T C exonic XKR5 nonsynonymous SNV XKR5:NM_207411:exon2:c.A205G:p.M69V 0.67 0.91 0.51 0.55 0.54 0.71 0.5717 0.8539 0.4882 0.5656 0.4882 0.5281 0.5390 0.6772 0.63 0.84 0.53 0.62 . rs2741098 COSM4998001 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.02 0.004 . . . . . . . . . -0.124 0.082 1.561 0.382 0.025 0.006 0.025 N n -0.014 -0.155 0.981 0.302 0.130 0.025 1 0.528 0.162 0.012 0.131 -0.371 0.067 0.000 0.063 0.001 0.043 5.897 0.181 . ENSG00000245857.2|ENSG00000245857.2 Esophagus_Mucosa|Testis 0.5625 0.8607 0.4844 0.5267 0.5658 0.4919 0.5322 0.5487 0.6723 0.6063 0.8485 0.4868 0.5364 0.5844 0.4894 0.5081 0.5244 hom 4836.43 154 8 6690276 . T C 4836.43 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8930;MQ=59.36;MQ0=0;QD=31.41;VQSLOD=9.7149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:4836,364,0 8 6793581 6793581 A G exonic DEFA4 synonymous SNV DEFA4:NM_001925:exon3:c.T255C:p.G85G 0.46 0.62 0.29 0.46 0.36 0.48 0.3981 0.5529 0.2145 0.4603 0.4059 0.3745 0.3985 0.4888 0.43 0.53 0.38 0.4 0.42 rs2738100 COSM3982565 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3890 0.5571 0.2215 0.3422 0.4629 0.4074 0.3799 0.3724 0.4846 0.4351 0.5552 0.2351 0.3940 0.4864 0.4164 0.3785 0.4 het 1778.19 188 8 6793581 . A G 1778.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.421;DP=188;DS;Dels=0.00;FS=6.813;HRun=0;HaplotypeScore=10.2316;MQ=59.66;MQ0=0;MQRankSum=0.066;QD=9.46;ReadPosRankSum=-0.878;VQSLOD=3.4483;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,69:188:99:1808,0,3277 8 6913031 6913031 G A exonic DEFA5 synonymous SNV DEFA5:NM_021010:exon2:c.C207T:p.T69T 0.29 0.15 0.43 0.29 0.36 0.33 0.3737 0.1933 0.3552 0.3106 0.4310 0.4083 0.3499 0.3689 0.32 0.19 0.39 0.24 0.36 rs2272719 COSM150445 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3603 0.1763 0.3483 0.3966 0.2942 0.4178 0.3873 0.3526 0.3521 0.3278 0.1830 0.3266 0.4007 0.2890 0.4115 0.3930 0.3653 het 616.96 44 8 6913031 . G A 616.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.155;DP=44;Dels=0.00;FS=2.906;HRun=0;HaplotypeScore=0.9665;MQ=59.05;MQ0=0;MQRankSum=-0.261;QD=14.02;ReadPosRankSum=0.932;VQSLOD=6.1009;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,26:44:99:647,0,422 8 8176221 8176221 C T exonic PRAG1 nonsynonymous SNV PRAG1:NM_001080826:exon7:c.G3664A:p.G1222S 0.48 0.41 0.51 0.57 0.52 0.43 0.5286 0.4318 0.6123 0.5758 0.5082 0.5400 0.5409 0.4627 0.51 0.44 0.54 0.28 0.39 rs13269488 COSM4163087;COSM4163088 1(thyroid) . . . . . . . . . . . . . . 0.998 0.715 D 0.906 0.626 P 0.064 0.220 N 1.000 0.090 P 2.345 0.676 M . . . . . . 0.046 0.191 -0.917 0.460 T 0.000 0.000 T . . . 1.743 0.270 14.65 0.887 0.176 0.118 0.167 N c -0.377 -0.570 1.000 0.747 0.672 0.522 0 0.737 0.174 -0.506 0.064 0.032 0.150 0.000 0.063 0.472 0.266 3.553 0.074 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain . . 0.5245 0.4195 0.5968 0.5568 0.5721 0.4904 0.5324 0.5177 0.4557 0.5017 0.4247 0.5676 0.5467 0.5631 0.4812 0.5379 0.5320 het 729.55 44 8 8176221 . C T 729.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.759;DP=44;Dels=0.00;FS=1.505;HRun=0;HaplotypeScore=1.7219;MQ=59.15;MQ0=0;MQRankSum=0.290;QD=16.58;ReadPosRankSum=-1.298;VQSLOD=5.8524;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,30:44:99:760,0,305 8 8176554 8176554 C T exonic PRAG1 nonsynonymous SNV PRAG1:NM_001080826:exon6:c.G3331A:p.A1111T 0.3 0.083 0.34 0.54 0.25 0.36 0.3235 0.1149 0.5052 0.5545 0.3073 0.2853 0.3112 0.3544 0.22 0.11 0.28 0.18 0.25 rs12549973 COSM3763417;COSM3763418 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . 0.164 0.268 B 0.09 0.283 B 0.490 0.121 N 1 0.090 P 1.1 0.281 L . . . . . . 0.037 0.144 -0.917 0.460 T 0.000 0.000 T . . . 1.785 0.275 14.90 0.993 0.582 0.144 0.182 N c -0.703 -0.672 1.000 0.747 0.778 0.996 0 3.53 0.394 0.055 0.140 0.007 0.138 0.000 0.063 0.403 0.255 10.124 0.416 Protein kinase domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000173295.3|ENSG00000104626.10|ENSG00000253981.1 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.3283 0.1086 0.4831 0.2545 0.5476 0.3061 0.2825 0.2873 0.3498 0.2496 0.1072 0.4239 0.2881 0.5433 0.3135 0.2722 0.2984 het 2209.19 203 8 8176554 . C T 2209.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.559;DP=203;DS;Dels=0.00;FS=4.216;HRun=0;HaplotypeScore=7.7441;MQ=59.77;MQ0=0;MQRankSum=-0.422;QD=10.88;ReadPosRankSum=-1.375;VQSLOD=3.7574;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,88:203:99:2239,0,3230 8 8235578 8235578 C T exonic PRAG1 nonsynonymous SNV PRAG1:NM_001080826:exon2:c.G341A:p.R114K . . . . . . 0.0001 0 0.0002 0 0.0002 0.0002 0 0 . . . . . rs751083391 . . . . . . . . . . . . . . . . 0.026 0.181 B 0.006 0.112 B 0.000 0.497 D 0.961 0.261 N 2.05 0.567 M . . . . . . 0.206 0.295 -1.054 0.133 T 0.103 0.379 T 0.004 0.090 T 3.517 0.480 23.1 0.968 0.306 0.845 0.432 D c -0.246 -0.068 1.000 0.451 0.707 0.730 0 4.22 0.490 2.210 0.422 0.876 0.383 0.967 0.338 0.953 0.430 12.678 0.561 . . . 7.321e-05 0 8.436e-05 0 0 0 0.0001 0.0005 0 3.237e-05 0 0 0 0 0 6.684e-05 0 het 543.39 62 8 8235578 . C T 543.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.199;DP=62;Dels=0.00;FS=6.601;HRun=1;HaplotypeScore=1.4450;MQ=60.00;MQ0=0;MQRankSum=1.405;QD=8.76;ReadPosRankSum=0.066;VQSLOD=2.8036;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,22:62:99:573,0,1140 8 8747894 8747894 A G exonic MFHAS1 nonsynonymous SNV MFHAS1:NM_004225:exon1:c.T2675C:p.L892P 0.97 0.95 0.96 1. 0.95 0.99 0.9669 0.9451 0.9785 1 0.9787 0.9572 0.9692 0.9899 0.95 0.95 0.95 0.98 0.98 rs429433 . . . . . . . . . . . . . 0.268 0.161 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.003 0.438 P -1.43 0.006 N 1.52 0.307 T 3.55 0.001 N 0.066 0.095 -0.960 0.393 T 0.000 0.000 T . . . 2.690 0.384 20.7 0.938 0.231 0.179 0.198 N c -0.471 -0.202 1.000 0.747 0.726 0.872 0 5.04 0.672 6.232 0.721 0.138 0.222 1.000 0.715 0.760 0.324 12.921 0.575 . . . 0.9678 0.9420 0.9743 0.9794 1 0.9799 0.9554 0.9613 0.9891 0.9610 0.9421 0.9726 0.9834 1 0.9820 0.9606 0.9776 hom 3330.51 104 8 8747894 . A G 3330.51 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2339;MQ=58.75;MQ0=0;QD=32.02;VQSLOD=8.8194;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3330,256,0 8 8869199 8869199 T G exonic ERI1 synonymous SNV ERI1:NM_153332:exon3:c.T435G:p.P145P 0.3 0.44 0.28 0.003 0.47 0.26 0.3624 0.4402 0.1794 0.0115 0.3638 0.4543 0.3642 0.2535 0.45 0.44 0.45 0.38 0.37 rs9650616 COSM3763438 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3542 0.4347 0.1951 0.5339 0.0115 0.3715 0.4516 0.3931 0.2512 0.4304 0.4488 0.2572 0.5166 0.0130 0.3601 0.4884 0.4398 het 333.31 60 8 8869199 . T G 333.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.040;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.14;MQ0=0;MQRankSum=1.831;QD=5.56;ReadPosRankSum=1.234;VQSLOD=4.5604;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,18:60:99:363,0,1077 8 8887543 8887545 AAC - exonic ERI1 nonframeshift deletion ERI1:NM_153332:exon7:c.1049_1051del:p.*350* 0.44 0.11 0.56 0.69 0.44 0.53 0.4793 0.1566 0.7202 0.6754 0.5221 0.4400 0.5055 0.5516 0.35 0.17 0.45 . . rs66532380 COSM1458537 1(upper_aerodigestive_tract);1(large_intestine);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4921 0.1473 0.6961 0.3512 0.6785 0.5157 0.4430 0.4720 0.5467 0.3738 0.1487 0.6329 0.3758 0.6604 0.5381 0.4179 0.4303 het 2275.64 139 8 8887542 . TAAC T 2275.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.259;DP=139;FS=0.000;HRun=0;HaplotypeScore=520.0780;MQ=56.73;MQ0=0;MQRankSum=-1.436;QD=16.37;ReadPosRankSum=0.477;set=variant2 GT:AD:DP:GQ:PL 0/1:82,57:139:99:2315,0,4310 8 9413875 9413875 T C exonic TNKS synonymous SNV TNKS:NM_003747:exon1:c.T426C:p.S142S 0.01 0.0008 0.025 0.001 0.029 0.002 0.0247 0.0059 0.0098 0.0002 0.0670 0.0339 0.0176 0.0064 0.028 0.0066 0.04 0.011 0.016 rs33985989 COSM5020613;COSM5020614 1(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0250 0.0044 0.0102 0.0041 0.0002 0.0651 0.0350 0.0261 0.0064 0.0270 0.0085 0.0072 0.0033 0 0.0745 0.0313 0.0275 het 2144.84 158 8 9413875 . T C 2144.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.849;DP=158;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.5722;MQ=59.72;MQ0=0;MQRankSum=-0.166;QD=13.57;ReadPosRankSum=-1.391;VQSLOD=5.0280;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,72:158:99:2175,0,2148 8 9564437 9564437 A G exonic TNKS synonymous SNV TNKS:NM_003747:exon8:c.A1386G:p.T462T 0.55 0.56 0.53 0.38 0.66 0.59 0.5810 0.5461 0.5278 0.4029 0.5036 0.6295 0.5987 0.5672 0.6 0.54 0.63 0.59 0.68 rs7006985 COSM150448;COSM3982618 1(stomach);2(haematopoietic_and_lymphoid_tissue);21(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5802 0.5467 0.5368 0.7676 0.3954 0.5205 0.6242 0.6108 0.5659 0.5725 0.5520 0.5718 0.7119 0.3939 0.4859 0.6190 0.6018 het 1465.97 101 8 9564437 . A G 1465.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.830;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9988;MQ=59.54;MQ0=0;MQRankSum=-0.919;QD=14.51;ReadPosRankSum=-1.445;VQSLOD=5.6627;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,56:101:99:1496,0,1234 8 9577940 9577940 T C exonic TNKS synonymous SNV TNKS:NM_003747:exon12:c.T1806C:p.G602G 0.98 0.91 0.99 1. 1. 1. 0.9927 0.9289 0.9940 1 1 0.9990 0.9956 0.9999 0.98 0.94 1. 0.96 0.98 rs6601360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9938 0.9268 0.9933 0.9935 1 1 0.9993 0.9920 0.9999 0.9790 0.9276 0.9928 0.9868 1 1 0.9995 0.9969 hom 3706.10 115 8 9577940 . T C 3706.10 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6638;MQ=59.40;MQ0=0;QD=32.23;VQSLOD=7.4526;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3706,286,0 8 10383226 10383226 C G exonic PRSS55 nonsynonymous SNV PRSS55:NM_001197020:exon1:c.C131G:p.P44R,PRSS55:NM_198464:exon1:c.C131G:p.P44R 0.73 0.65 0.74 0.68 0.82 0.81 0.7923 0.6968 0.7344 0.7360 0.8372 0.8163 0.8094 0.8023 0.76 0.69 0.8 0.66 0.59 rs4521726 COSM4162574 2(thyroid) . . . . . . . . . . . 0.411 0.139 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.345 0.112 N -3.13 0.928 D -0.02 0.073 N 0.055 0.037 -0.949 0.411 T 0.000 0.000 T . . . -0.190 0.077 1.153 0.702 0.089 0.009 0.035 N c -1.720 -1.823 0.000 0.065 0.487 0.133 0 -0.835 0.102 -0.643 0.055 -0.654 0.041 0.001 0.137 0.000 0.016 . . Peptidase S1\x2c PA clan ENSG00000253678.1|ENSG00000255310.2 Brain_Cerebellum|Nerve_Tibial 0.7778 0.6753 0.6996 0.8962 0.7111 0.8315 0.7987 0.8016 0.7942 0.7640 0.6858 0.6959 0.8940 0.6669 0.7978 0.8107 0.8014 hom 1563.90 46 8 10383226 . C G 1563.90 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=34.00;VQSLOD=9.3464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1597,132,0 8 10390452 10390452 C T exonic PRSS55 nonsynonymous SNV PRSS55:NM_001197020:exon4:c.C635T:p.A212V,PRSS55:NM_198464:exon4:c.C635T:p.A212V 0.34 0.22 0.33 0.43 0.33 0.43 0.3427 0.2405 0.2839 0.4338 0.3383 0.3402 0.3579 0.4113 0.31 0.25 0.34 0.34 0.23 rs4406360 . . . . . . . . . . . . . 0.602 0.198 T 0.108 0.245 B 0.015 0.162 B 0.378 0.134 N 1 0.090 P -0.38 0.030 N -3.04 0.924 D 0.69 0.052 N 0.059 0.043 -1.048 0.149 T 0.000 0.000 T . . . -0.472 0.057 0.258 0.694 0.087 0.004 0.020 N c -1.290 -1.283 0.034 0.141 0.487 0.133 0 -4.08 0.037 -0.498 0.065 -0.351 0.070 0.002 0.151 0.356 0.247 7.151 0.246 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.3420 0.2414 0.2832 0.3306 0.4262 0.3429 0.3426 0.3416 0.4103 0.3205 0.2450 0.3046 0.3467 0.3899 0.3434 0.3512 0.3330 hom 3547.38 120 8 10390452 . C T 3547.38 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9344;MQ=59.81;MQ0=0;QD=29.56;VQSLOD=7.7661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,119:120:99:3547,286,0 8 10396054 10396054 A C exonic PRSS55 synonymous SNV PRSS55:NM_198464:exon5:c.A810C:p.I270I 0.67 0.64 0.69 0.76 0.6 0.67 0.6490 0.6190 0.6994 0.7674 0.6170 0.6260 0.6211 0.6777 0.63 0.62 0.63 0.69 0.57 rs6601483 COSM5618727 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6486 0.6211 0.6963 0.5199 0.7610 0.6137 0.6324 0.6231 0.6773 0.6340 0.6083 0.7057 0.5364 0.7577 0.6230 0.6362 0.6322 het 1376.53 101 8 10396054 . A C 1376.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.769;DP=101;Dels=0.00;FS=1.672;HRun=0;HaplotypeScore=3.9704;MQ=59.82;MQ0=0;MQRankSum=-0.294;QD=13.63;ReadPosRankSum=-0.183;VQSLOD=5.6295;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,46:101:99:1407,0,1351 8 10396056 10396056 G C exonic PRSS55 nonsynonymous SNV PRSS55:NM_198464:exon5:c.G812C:p.S271T 0.068 0.18 0.05 0.001 0.062 0.0051 0.0626 0.1857 0.0368 0 0.0454 0.0695 0.0441 0.0157 0.1 0.18 0.063 0.076 0.057 rs61743179 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.998 0.875 D 0.001 0.414 D 0.022 0.810 P 3.64 0.942 H -3.92 0.961 D -2.69 0.574 D 0.384 0.444 -1.158 0.008 T 0.024 0.101 T . . . 5.567 0.757 26.4 0.995 0.686 0.959 0.663 D c 0.782 0.687 0.901 0.261 0.487 0.133 0 4.2 0.486 7.289 0.779 0.953 0.551 1.000 0.715 0.999 0.750 12.211 0.535 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.0599 0.1863 0.0421 0.1257 5.798e-05 0.0487 0.0653 0.0662 0.0161 0.0954 0.1852 0.0513 0.1457 0 0.0455 0.0685 0.0684 het 1472.41 102 8 10396056 . G C 1472.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.765;DP=102;Dels=0.00;FS=2.631;HRun=1;HaplotypeScore=3.9704;MQ=59.82;MQ0=0;MQRankSum=-0.194;QD=14.44;ReadPosRankSum=0.010;VQSLOD=5.0595;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,55:102:99:1502,0,1426 8 10465748 10465748 T C exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.A5860G:p.T1954A 0.65 0.47 0.67 0.98 0.51 0.68 0.6071 0.4435 0.7903 0.9735 0.6326 0.5317 0.6272 0.6706 0.52 0.5 0.53 0.69 0.49 rs11783478 COSM453782 1(large_intestine) Benign Occult_macular_dystrophy RCV000275559.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.04 0.011 N 3.67 0.042 T 0.08 0.060 N 0.009 0.001 -0.989 0.330 T 0.000 0.000 T . . . -1.652 0.014 0.002 0.171 0.005 0.001 0.005 N c -1.839 -1.911 0.000 0.038 0.581 0.326 0 -2.32 0.063 -2.840 0.008 -0.881 0.027 0.000 0.063 0.005 0.090 3.758 0.081 . ENSG00000269918.1|ENSG00000255518.1|ENSG00000254774.1|ENSG00000269954.1|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Thyroid|Thyroid|Whole_Blood 0.6137 0.4063 0.7755 0.4844 0.9770 0.6315 0.5306 0.5835 0.6717 0.5473 0.4200 0.7427 0.4831 0.9830 0.6494 0.5360 0.5805 hom 8384.54 250 8 10465748 . T C 8384.54 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.9382;MQ=58.92;MQ0=0;QD=33.54;VQSLOD=3.1783;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8384,662,0 8 10465771 10465771 G T exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.C5837A:p.A1946E 0.92 0.81 0.97 1. 0.96 0.9 0.9494 0.8327 0.9772 0.9998 0.9735 0.9586 0.9534 0.9259 0.92 0.85 0.96 0.89 0.93 rs11785822 . . Benign Occult_macular_dystrophy RCV000318956.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.895 0.014 N 2.63 0.129 T 0.24 0.045 N 0.054 0.036 -0.977 0.358 T 0.000 0.000 T . . . -0.173 0.078 1.249 0.211 0.008 0.001 0.004 N c -2.000 -2.070 0.000 0.035 0.581 0.326 0 -2.34 0.063 -0.632 0.055 -0.570 0.046 0.000 0.063 0.031 0.148 5.840 0.178 . . . . . . . . . . . . 0.9287 0.8399 0.9641 0.9238 0.9975 0.9733 0.9588 0.9486 het 4561.46 250 8 10465771 . G T 4561.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.444;DP=250;DS;Dels=0.00;FS=1.012;HRun=0;HaplotypeScore=9.1836;MQ=59.00;MQ0=0;MQRankSum=-0.780;QD=18.25;ReadPosRankSum=-0.282;VQSLOD=2.5620;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,135:250:99:3886,0,2827 8 10465942 10465942 T A exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.A5666T:p.D1889V 0.24 0.17 0.34 0.39 0.21 0.12 0.2501 0.1839 0.4691 0.4080 0.3526 0.2154 0.2461 0.1533 0.2 0.19 0.2 0.22 0.23 rs28446662 COSM3762973 1(large_intestine) Benign Occult_macular_dystrophy RCV000339956.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . 0.004 0.654 D 0.005 0.119 B 0.006 0.112 B . . . 1 0.090 P 0.345 0.112 N 3.17 0.076 T -0.77 0.214 N 0.033 0.013 -0.921 0.454 T 0.000 0.000 T . . . 0.203 0.113 4.709 0.284 0.015 0.014 0.048 N c -1.545 -1.640 0.000 0.035 0.581 0.326 0 -2.8 0.054 -2.874 0.008 -1.766 0.007 0.000 0.063 0.005 0.090 4.542 0.114 . . . 0.2587 0.1804 0.4518 0.1269 0.4075 0.3412 0.2141 0.2329 0.1529 0.2377 0.1772 0.3942 0.12 0.4171 0.3550 0.2171 0.2745 het 3150.87 250 8 10465942 . T A 3150.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.033;DP=250;DS;Dels=0.00;FS=0.992;HRun=1;HaplotypeScore=10.0342;MQ=59.15;MQ0=0;MQRankSum=0.723;QD=12.60;ReadPosRankSum=0.438;VQSLOD=3.7034;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:131,119:250:99:3181,0,3529 8 10466089 10466089 G C exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.C5519G:p.A1840G 0.03 0.035 0.016 0.002 0.035 0.058 0.0349 0.0342 0.0171 0 0.0263 0.0396 0.0367 0.0505 0.037 0.03 0.04 0.033 0.057 rs77968698 . . Likely benign Occult_macular_dystrophy RCV000311756.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . 0.0 0.912 D 0.982 0.581 D 0.624 0.497 P . . . 1 0.090 N 1.04 0.263 L 3.05 0.087 T -1.32 0.330 N 0.034 0.014 -0.969 0.373 T 0.004 0.014 T . . . 2.041 0.306 16.48 0.856 0.155 0.076 0.135 N c -0.479 -0.607 0.000 0.042 0.581 0.326 0 3.44 0.383 0.133 0.156 0.627 0.290 0.000 0.063 0.004 0.083 6.699 0.223 . . . 0.0345 0.0341 0.0192 0.0609 0 0.0281 0.0381 0.0392 0.0528 0.0352 0.0347 0.0298 0.0596 0.0006 0.0260 0.0407 0.0429 het 2590.88 248 8 10466089 . G C 2590.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.625;DP=248;DS;Dels=0.00;FS=1.600;HRun=2;HaplotypeScore=10.1180;MQ=59.48;MQ0=0;MQRankSum=-1.489;QD=10.45;ReadPosRankSum=0.717;VQSLOD=2.9702;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:149,98:248:99:2621,0,4401 8 10466161 10466161 C T exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.G5447A:p.G1816D 0.03 0.036 0.014 0.002 0.035 0.058 0.0351 0.0361 0.0170 0.0002 0.0263 0.0396 0.0367 0.0506 0.037 0.033 0.04 0.033 0.057 rs79019225 . . Likely benign Occult_macular_dystrophy RCV000262959.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . 0.295 0.147 T 0.001 0.067 B 0.002 0.063 B 0.553 0.114 U 1 0.090 N -0.405 0.030 N 2.15 0.193 T 0.15 0.053 N 0.028 0.009 -0.968 0.376 T 0.006 0.019 T . . . 0.327 0.126 5.954 0.360 0.023 0.030 0.077 N c -1.547 -1.585 0.000 0.038 0.581 0.326 0 -2.56 0.059 -0.567 0.060 -0.620 0.043 0.000 0.063 0.001 0.043 6.964 0.236 . . . 0.0346 0.0357 0.0192 0.0609 0.0001 0.0282 0.0382 0.0393 0.0528 0.0356 0.0352 0.0298 0.0596 0.0006 0.0260 0.0412 0.0428 het 3131.05 250 8 10466161 . C T 3131.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.132;DP=250;DS;Dels=0.00;FS=6.039;HRun=0;HaplotypeScore=4.4956;MQ=59.38;MQ0=0;MQRankSum=-0.690;QD=12.52;ReadPosRankSum=0.336;VQSLOD=4.5576;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3161,0,3830 8 10467124 10467124 G C exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.C4484G:p.P1495R 0.28 0.25 0.35 0.39 0.26 0.18 0.2945 0.2647 0.4907 0.4158 0.3792 0.2610 0.2961 0.2070 0.24 0.25 0.24 0.25 0.22 rs4841399 COSM453785 1(large_intestine) Benign Occult_macular_dystrophy RCV000365763.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . 0.064 0.365 T 0.851 0.450 P 0.314 0.398 B 0.066 0.022 N 1 0.090 P 0.69 0.170 N 3.69 0.041 T -0.34 0.127 N 0.051 0.032 -0.970 0.372 T 0.000 0.000 T . . . -1.105 0.028 0.010 0.471 0.038 0.072 0.131 N c -1.128 -1.307 0.002 0.091 0.554 0.246 0 -5.06 0.027 -0.805 0.046 -0.349 0.070 0.000 0.063 0.000 0.016 1.985 0.032 . . . 0.2980 0.2571 0.4738 0.1872 0.4155 0.3687 0.2557 0.2750 0.2075 0.2899 0.2620 0.4379 0.1821 0.4314 0.3837 0.2608 0.3214 hom 3508.99 108 8 10467124 . G C 3508.99 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7972;MQ=59.61;MQ0=0;QD=32.49;VQSLOD=7.0935;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3508,298,0 8 10467207 10467207 C A exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.G4401T:p.R1467S 0.94 0.81 0.99 1. 1. 0.96 0.9820 0.8362 0.9908 0.9999 1 0.9989 0.9922 0.9755 0.95 0.85 1. 0.92 0.82 rs4840498 . . Benign Occult_macular_dystrophy RCV000372464.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.404 0.045 N 1 0.090 P -1.65 0.004 N 3.79 0.038 T 1.06 0.013 N 0.017 0.003 -0.979 0.353 T 0.000 0.000 T . . . -0.076 0.087 1.916 0.270 0.013 0.001 0.005 N c -1.465 -1.390 0.000 0.055 0.554 0.283 0 2.13 0.263 0.868 0.274 -0.115 0.114 0.063 0.217 0.000 0.016 0.782 0.010 . . . 0.9841 0.8248 0.9902 0.9992 0.9999 1.0000 0.9988 0.9913 0.9771 0.9516 0.8321 0.9868 1 0.9994 1 0.9993 0.9887 hom 6465.58 207 8 10467207 . C A 6465.58 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8932;MQ=59.78;MQ0=0;QD=31.23;VQSLOD=8.8106;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6464,542,0 8 10468172 10468172 G A exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.C3436T:p.R1146W 0.71 0.65 0.76 0.6 0.73 0.84 0.7309 0.6596 0.7981 0.6336 0.7963 0.7122 0.7143 0.8268 0.71 0.68 0.72 0.66 0.59 rs4840502 COSM1453857 1(pancreas);1(thyroid);1(upper_aerodigestive_tract) Benign Occult_macular_dystrophy RCV000348789.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . 0.204 0.200 T 1.0 0.899 D 0.952 0.674 D 0.664 0.060 N 1 0.090 P 2.215 0.627 M 3.33 0.062 T -2.63 0.564 D 0.102 0.106 -0.959 0.395 T 0.000 0.000 T . . . 5.296 0.716 25.7 0.998 0.927 0.079 0.138 N c -0.292 -0.479 0.000 0.048 0.487 0.133 0 -0.17 0.126 1.229 0.320 0.009 0.139 0.097 0.225 0.669 0.302 8.762 0.337 . . . 0.7337 0.6567 0.7778 0.6979 0.6269 0.7904 0.7142 0.7254 0.8262 0.7070 0.6545 0.7410 0.6987 0.6152 0.7927 0.7231 0.7464 het 1238.65 112 8 10468172 . G A 1238.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.164;DP=112;Dels=0.00;FS=1.617;HRun=1;HaplotypeScore=1.7206;MQ=59.25;MQ0=0;MQRankSum=2.103;QD=11.06;ReadPosRankSum=0.024;VQSLOD=6.2750;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,45:112:99:1269,0,1789 8 10469233 10469233 A G exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.T2375C:p.L792P 0.31 0.35 0.36 0.022 0.56 0.29 0.4235 0.3714 0.2279 0.0266 0.4162 0.5404 0.4195 0.3311 0.48 0.35 0.54 0.27 0.48 rs35602868 COSM3762980 1(thyroid);1(large_intestine) Benign Occult_macular_dystrophy RCV000341291.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . 0.202 0.202 T 0.649 0.387 P 0.219 0.360 B 0.132 0.028 U 1.000 0.186 P 1.935 0.520 L 3.15 0.078 T -0.87 0.236 N 0.127 0.144 -0.953 0.405 T 0.000 0.000 T . . . 1.550 0.248 13.58 0.965 0.296 0.045 0.101 N c -1.016 -1.100 0.000 0.050 0.487 0.133 0 -0.8 0.103 0.116 0.153 0.048 0.160 0.000 0.063 0.002 0.062 5.537 0.162 . ENSG00000255518.1|ENSG00000254774.1|ENSG00000255354.1|ENSG00000269954.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000154319.10|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000255310.2|ENSG00000255310.2|ENSG00000255310.2|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Nerve_Tibial|Pancreas|Thyroid|Thyroid|Whole_Blood 0.4163 0.3671 0.2425 0.5886 0.0227 0.4235 0.5406 0.4649 0.3312 0.4496 0.3750 0.2971 0.5828 0.0142 0.4094 0.5541 0.4754 het 809.02 98 8 10469233 . A G 809.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.858;DP=98;Dels=0.00;FS=8.938;HRun=2;HaplotypeScore=3.8281;MQ=58.91;MQ0=0;MQRankSum=-0.461;QD=8.26;ReadPosRankSum=-0.497;VQSLOD=3.2545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,36:98:99:839,0,1641 8 10469817 10469817 G A exonic RP1L1 synonymous SNV RP1L1:NM_178857:exon4:c.C1791T:p.G597G 0.8 0.8 0.84 0.61 0.88 0.88 0.8447 0.8035 0.8665 0.6435 0.8916 0.8575 0.8098 0.8894 0.85 0.82 0.86 0.78 0.79 rs6996950 COSM4408391 1(liver) Benign Occult_macular_dystrophy RCV000397861.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8446 0.7989 0.8503 0.8845 0.6364 0.8899 0.8558 0.8452 0.8913 0.8343 0.7983 0.8457 0.8907 0.6286 0.8816 0.8638 0.8469 hom 6582.32 238 8 10469817 . G A 6582.32 Mask AC=2;AF=1.00;AN=2;DP=238;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6665;MQ=59.47;MQ0=0;QD=27.66;VQSLOD=7.3983;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:238:99:6580,538,0 8 10470068 10470068 C T exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.G1540A:p.G514S 0.29 0.35 0.31 0.021 0.51 0.27 0.3912 0.3627 0.2043 0.0256 0.3901 0.4965 0.3901 0.3174 0.45 0.34 0.5 0.25 0.41 rs74990397 COSM1319774 2(haematopoietic_and_lymphoid_tissue);1(thyroid);4(large_intestine) Benign Occult_macular_dystrophy RCV000369318.1 MedGen:OMIM:Orphanet C3150833:613587:ORPHA247834 . . . . . . 0.609 0.055 T 0.016 0.161 B 0.002 0.063 B 0.460 0.049 N 1 0.090 P 1.445 0.365 L 3.85 0.037 T 0.3 0.041 N 0.025 0.007 -0.932 0.439 T 0.000 0.000 T . . . -1.220 0.024 0.006 0.525 0.047 0.005 0.025 N c -2.118 -2.198 0.986 0.309 0.487 0.133 0 -8.57 0.008 -3.157 0.006 -0.824 0.030 0.000 0.063 0.000 0.016 4.828 0.127 . ENSG00000269918.1|ENSG00000255518.1|ENSG00000254774.1|ENSG00000255354.1|ENSG00000269954.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000269918.1|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1|ENSG00000255310.2|ENSG00000255310.2|ENSG00000269918.1|ENSG00000255310.2|ENSG00000269918.1 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Stomach|Thyroid|Thyroid|Whole_Blood 0.3833 0.3571 0.2149 0.5466 0.0223 0.3972 0.4960 0.4250 0.3174 0.4205 0.3609 0.2584 0.5265 0.0142 0.3773 0.5152 0.4370 het 1292.41 79 8 10470068 . C T 1292.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.985;DP=79;Dels=0.00;FS=8.244;HRun=0;HaplotypeScore=1.9157;MQ=58.27;MQ0=0;MQRankSum=0.015;QD=16.36;ReadPosRankSum=-0.631;VQSLOD=3.6650;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,49:79:99:1322,0,616 8 10583506 10583506 A G exonic SOX7 synonymous SNV SOX7:NM_031439:exon2:c.T909C:p.L303L 0.43 0.84 0.38 0.14 0.38 0.28 0.3709 0.7556 0.2927 0.1523 0.3210 0.3680 0.3522 0.3164 0.49 0.74 0.37 0.46 0.35 rs4841432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3559 0.7636 0.2955 0.4557 0.1417 0.3276 0.3639 0.3532 0.2964 0.4574 0.7545 0.3134 0.4338 0.1278 0.3148 0.3663 0.3834 het 1050.18 74 8 10583506 . A G 1050.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.443;DP=74;Dels=0.00;FS=7.359;HRun=0;HaplotypeScore=1.7900;MQ=59.69;MQ0=0;MQRankSum=2.011;QD=14.19;ReadPosRankSum=2.022;VQSLOD=3.8937;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,37:74:99:1080,0,968 8 11162496 11162496 A C exonic MTMR9 synonymous SNV MTMR9:NM_015458:exon4:c.A564C:p.L188L 0.4 0.15 0.35 0.71 0.39 0.46 0.4198 0.1935 0.3441 0.7324 0.4800 0.4072 0.4394 0.4776 0.34 0.2 0.4 0.45 0.38 rs2164272 COSM3763002 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4197 0.1872 0.3463 0.3384 0.7319 0.4671 0.4091 0.4041 0.4734 0.3638 0.1955 0.3747 0.3477 0.7277 0.4917 0.3898 0.4020 het 1336.64 99 8 11162496 . A C 1336.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.960;DP=99;DS;Dels=0.00;FS=8.745;HRun=0;HaplotypeScore=3.6686;MQ=58.83;MQ0=0;MQRankSum=1.189;QD=13.50;ReadPosRankSum=-0.733;VQSLOD=4.7503;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,46:99:99:1367,0,1467 8 11301753 11301753 A C exonic FAM167A nonsynonymous SNV FAM167A:NM_053279:exon2:c.T168G:p.H56Q 1. 1. 0.99 1. 1. 1. 0.9950 0.9982 0.9976 1 0.9932 0.9929 0.9956 0.9980 0.99 1. 0.99 0.99 0.72 rs3021513 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.048 0.233 N 1.000 0.090 P -1.865 0.003 N 3.25 0.068 T 2.07 0.004 N 0.233 0.285 -1.019 0.240 T 0.000 0.000 T . . . -0.175 0.078 1.237 0.484 0.040 0.040 0.094 N c -1.161 -0.899 0.993 0.329 0.554 0.283 0 2.03 0.256 0.155 0.161 0.013 0.140 0.953 0.330 0.970 0.461 2.729 0.049 . . . 0.9951 0.9984 0.9969 0.9997 1 0.9952 0.9919 0.9958 0.9981 0.9939 0.9987 0.9916 0.9967 1 0.9940 0.9906 0.9918 hom 2944.96 88 8 11301753 . A C 2944.96 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.95;MQ0=0;QD=33.47;VQSLOD=9.3124;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2978,253,0 8 11414237 11414237 T C exonic BLK synonymous SNV BLK:NM_001330465:exon8:c.T630C:p.F210F,BLK:NM_001715:exon9:c.T843C:p.F281F 0.83 0.72 0.9 0.95 0.85 0.77 0.8317 0.7353 0.8637 0.9505 0.8151 0.8422 0.8337 0.7717 0.81 0.75 0.85 0.76 0.8 rs2306234 COSM4162611 1(thyroid) other|Benign not_specified|Maturity-onset_diabetes_of_the_young RCV000116500.3|RCV000323110.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0004904:CN004347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8357 0.7350 0.8646 0.8833 0.9508 0.8105 0.8409 0.8431 0.7727 0.8160 0.7320 0.8568 0.8742 0.9573 0.7899 0.8496 0.8574 hom 3775.12 118 8 11414237 . T C 3775.12 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6159;MQ=58.20;MQ0=0;QD=31.99;VQSLOD=8.7862;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3775,295,0 8 11660362 11660362 T C exonic FDFT1 nonsynonymous SNV FDFT1:NM_001287756:exon1:c.T7C:p.W3R 0.17 0.38 0.13 0.0079 0.18 0.11 0.1582 0.3719 0.0986 0.0165 0.1264 0.1652 0.1476 0.1189 0.21 0.33 0.15 0.2 0.041 rs1047643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1292 0.3376 0.0835 0.1471 0.0139 0.0908 0.1467 0.1364 0.1046 0.1895 0.3405 0.1062 0.1523 0.0204 0.0887 0.1535 0.1242 het 249.74 29 8 11660362 . T C 249.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.097;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=-0.765;QD=8.61;ReadPosRankSum=-0.173;VQSLOD=5.9531;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,12:29:99:280,0,393 8 11667179 11667179 C T exonic FDFT1 synonymous SNV FDFT1:NM_001287750:exon2:c.C378T:p.N126N,FDFT1:NM_001287744:exon3:c.C9T:p.N3N,FDFT1:NM_001287747:exon3:c.C9T:p.N3N,FDFT1:NM_001287748:exon3:c.C9T:p.N3N,FDFT1:NM_001287749:exon3:c.C9T:p.N3N,FDFT1:NM_004462:exon3:c.C201T:p.N67N,FDFT1:NM_001287743:exon4:c.C201T:p.N67N,FDFT1:NM_001287745:exon4:c.C9T:p.N3N,FDFT1:NM_001287742:exon5:c.C201T:p.N67N 0.24 0.092 0.24 0.45 0.19 0.26 0.2242 0.1076 0.2596 0.4337 0.2292 0.2008 0.2180 0.2573 0.17 0.12 0.19 0.21 0.25 rs8417 COSM3763009 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2228 0.1071 0.2513 0.1296 0.4334 0.2225 0.2009 0.2193 0.2417 0.1848 0.1134 0.2452 0.1358 0.4152 0.2242 0.1889 0.2014 het 817.21 71 8 11667179 . C T 817.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=71;Dels=0.00;FS=4.136;HRun=0;HaplotypeScore=0.7340;MQ=58.94;MQ0=0;MQRankSum=1.745;QD=11.51;ReadPosRankSum=0.551;VQSLOD=5.8867;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,31:71:99:847,0,1004 8 11683653 11683653 T C exonic FDFT1 synonymous SNV FDFT1:NM_001287756:exon2:c.T130C:p.L44L,FDFT1:NM_001287750:exon4:c.T808C:p.L270L,FDFT1:NM_001287751:exon4:c.T376C:p.L126L,FDFT1:NM_001287744:exon5:c.T439C:p.L147L,FDFT1:NM_001287747:exon5:c.T439C:p.L147L,FDFT1:NM_001287748:exon5:c.T439C:p.L147L,FDFT1:NM_001287749:exon5:c.T439C:p.L147L,FDFT1:NM_004462:exon5:c.T631C:p.L211L,FDFT1:NM_001287743:exon6:c.T631C:p.L211L,FDFT1:NM_001287745:exon6:c.T439C:p.L147L,FDFT1:NM_001287742:exon7:c.T631C:p.L211L 0.97 0.91 0.99 1. 1. 1. 0.9931 0.9261 0.9953 1 1 0.9999 0.9967 0.9999 0.97 0.92 1. 0.98 0.98 rs904011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9945 0.9232 0.996 1 1 1 0.9998 0.9978 1.0000 0.9773 0.9213 0.9928 1 1 1 0.9997 0.9949 hom 6279.23 200 8 11683653 . T C 6279.23 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7777;MQ=59.51;MQ0=0;QD=31.40;VQSLOD=8.7285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6279,481,0 8 11689119 11689119 G C exonic FDFT1 synonymous SNV FDFT1:NM_001287756:exon4:c.G471C:p.L157L,FDFT1:NM_001287750:exon6:c.G1149C:p.L383L,FDFT1:NM_001287751:exon6:c.G717C:p.L239L,FDFT1:NM_001287744:exon7:c.G780C:p.L260L,FDFT1:NM_001287747:exon7:c.G780C:p.L260L,FDFT1:NM_001287748:exon7:c.G780C:p.L260L,FDFT1:NM_001287749:exon7:c.G780C:p.L260L,FDFT1:NM_004462:exon7:c.G972C:p.L324L,FDFT1:NM_001287743:exon8:c.G972C:p.L324L,FDFT1:NM_001287745:exon8:c.G780C:p.L260L,FDFT1:NM_001287742:exon9:c.G972C:p.L324L 0.31 0.084 0.28 0.73 0.21 0.29 0.2751 0.1087 0.3490 0.7410 0.3161 0.2250 0.2930 0.2691 0.18 0.11 0.21 0.29 0.28 rs9205 COSM3763010 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2785 0.1065 0.3315 0.1416 0.7319 0.3112 0.2244 0.2594 0.2719 0.2292 0.1165 0.3055 0.1556 0.7432 0.3227 0.2140 0.2434 het 2512.52 180 8 11689119 . G C 2512.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.019;DP=180;Dels=0.00;FS=1.830;HRun=0;HaplotypeScore=3.7248;MQ=59.07;MQ0=0;MQRankSum=0.233;QD=13.96;ReadPosRankSum=-1.572;VQSLOD=5.5277;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,88:180:99:2543,0,2574 8 11706581 11706581 T G exonic CTSB synonymous SNV CTSB:NM_001908:exon5:c.A420C:p.T140T,CTSB:NM_147781:exon6:c.A420C:p.T140T,CTSB:NM_147782:exon6:c.A420C:p.T140T,CTSB:NM_147783:exon6:c.A420C:p.T140T,CTSB:NM_147780:exon7:c.A420C:p.T140T 0.57 0.61 0.54 0.51 0.62 0.56 0.5716 0.6071 0.4549 0.4952 0.5059 0.6097 0.5615 0.5439 0.65 0.7 0.62 0.28 0.63 rs13332 COSM329287 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5603 0.5976 0.4526 0.5697 0.4914 0.5046 0.6116 0.5850 0.5457 0.5835 0.6012 0.4797 0.5596 0.4703 0.5037 0.6119 0.5592 hom 1885.30 58 8 11706581 . T G 1885.30 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.51;VQSLOD=13.1840;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1918,150,0 8 11710888 11710888 G C exonic CTSB nonsynonymous SNV CTSB:NM_001908:exon2:c.C76G:p.L26V,CTSB:NM_147781:exon3:c.C76G:p.L26V,CTSB:NM_147782:exon3:c.C76G:p.L26V,CTSB:NM_147783:exon3:c.C76G:p.L26V,CTSB:NM_147780:exon4:c.C76G:p.L26V 0.4 0.33 0.39 0.51 0.38 0.38 0.3807 0.3357 0.3632 0.5050 0.4134 0.3769 0.4020 0.3574 0.36 0.34 0.37 0.38 0.32 rs12338 COSM3763011 1(breast);1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver);1(large_intestine) . . . . . . . . . . . 0.012 0.546 D 0.01 0.144 B 0.017 0.170 B 0.000 0.843 D 0.000 0.492 P 4.01 0.969 H -0.15 0.773 T -2.17 0.571 N 0.414 0.623 -1.005 0.286 T 0.000 0.000 T . . . 2.029 0.305 16.40 0.989 0.476 0.861 0.450 D c -0.248 -0.280 1.0 0.983 0.722 0.854 0 2.39 0.284 1.537 0.355 -0.212 0.100 0.952 0.329 0.029 0.146 4.816 0.126 Peptidase C1A\x2c propeptide ENSG00000164733.16|ENSG00000164733.16|ENSG00000164733.16|ENSG00000164733.16|ENSG00000269899.1|ENSG00000164733.16|ENSG00000164733.16|ENSG00000154328.11|ENSG00000164733.16 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Thyroid|Whole_Blood 0.3778 0.3275 0.3491 0.2836 0.5023 0.4023 0.3834 0.3788 0.3563 0.3682 0.3338 0.3589 0.3179 0.4776 0.3938 0.3735 0.3477 het 1261.11 120 8 11710888 . G C 1261.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.237;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9903;MQ=58.95;MQ0=0;MQRankSum=-1.382;QD=10.51;ReadPosRankSum=1.462;VQSLOD=5.0742;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,53:120:99:1291,0,1882 8 11832079 11832079 A G exonic DEFB136 synonymous SNV DEFB136:NM_001033018:exon1:c.T30C:p.F10F 0.77 0.86 0.69 0.99 0.52 0.76 0.6442 0.8170 0.8119 0.9832 0.6231 0.5271 0.6526 0.7283 0.62 0.81 0.53 0.81 0.52 rs10108075 COSM3763013 1(large_intestine);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6464 0.8251 0.7987 0.4456 0.9828 0.6124 0.5291 0.5959 0.7263 0.6430 0.8221 0.7524 0.4437 0.9815 0.6357 0.5058 0.5787 het 2899.09 244 8 11832079 . A G 2899.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.440;DP=244;DS;Dels=0.00;FS=1.671;HRun=0;HaplotypeScore=0.7340;MQ=58.97;MQ0=0;MQRankSum=0.336;QD=11.88;ReadPosRankSum=-1.349;VQSLOD=6.0874;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:137,107:244:99:2929,0,3933 8 12878637 12878637 A G exonic KIAA1456 nonsynonymous SNV KIAA1456:NM_001099677:exon2:c.A71G:p.H24R,KIAA1456:NM_020844:exon5:c.A449G:p.H150R 1. 0.99 1. 1. 1. 1. 0.9992 0.9910 1 1 1 1.0000 0.9989 1 1. 0.99 1. 0.97 . rs528255 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.011 0.296 N 1 0.462 P 1.3 0.327 L 1.05 0.400 T 1.3 0.010 N 0.021 0.009 -0.958 0.396 T 0.000 0.000 T . . . -1.197 0.025 0.007 0.191 0.006 0.192 0.204 N c -1.254 -1.099 0.000 0.067 0.554 0.283 0 0.659 0.170 0.045 0.138 -0.570 0.046 0.159 0.236 0.674 0.303 12.123 0.530 S-adenosyl-L-methionine-dependent methyltransferase . . 0.9994 0.9919 0.9999 1 1 1 1.0000 0.9994 1.0000 0.9977 0.9922 0.9988 1 1 1 0.9999 1 hom 1615.58 50 8 12878637 . A G 1615.58 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=32.31;VQSLOD=9.3535;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1649,144,0 8 12878677 12878677 T C exonic KIAA1456 synonymous SNV KIAA1456:NM_001099677:exon2:c.T111C:p.A37A,KIAA1456:NM_020844:exon5:c.T489C:p.A163A 0.71 0.58 0.76 0.79 0.82 0.65 0.7608 0.6123 0.7470 0.7627 0.7726 0.8000 0.7550 0.6946 0.75 0.63 0.8 0.64 . rs622106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7598 0.6067 0.7526 0.7880 0.7556 0.7663 0.7980 0.7704 0.6916 0.7430 0.6163 0.7464 0.7980 0.7478 0.7564 0.8093 0.7821 het 1081.24 85 8 12878677 . T C 1081.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.068;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7273;MQ=59.46;MQ0=0;MQRankSum=-0.971;QD=12.72;ReadPosRankSum=-0.882;VQSLOD=5.5578;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,37:85:99:1111,0,1472 8 12878807 12878807 T G exonic KIAA1456 nonsynonymous SNV KIAA1456:NM_001099677:exon2:c.T241G:p.C81G,KIAA1456:NM_020844:exon5:c.T619G:p.C207G 0.65 0.46 0.73 0.78 0.77 0.59 0.7095 0.4880 0.7243 0.7549 0.7047 0.7496 0.7038 0.6472 0.67 0.51 0.75 0.53 . rs3739310 . . . . . . . . . . . . . 0.393 0.107 T 0.0 0.026 B 0.0 0.013 B 0.546 0.115 N 1 0.090 P 1.43 0.360 L 2.97 0.095 T -0.35 0.129 N 0.05 0.092 -0.954 0.403 T 0.000 0.000 T . . . -0.548 0.053 0.167 0.624 0.068 0.067 0.125 N c -1.074 -1.168 0.057 0.151 0.554 0.283 0 -6.48 0.017 -1.699 0.020 0.146 0.234 0.000 0.063 0.002 0.062 1.675 0.026 . . . 0.7100 0.4789 0.7284 0.7547 0.748 0.7005 0.7463 0.7196 0.6422 0.6702 0.4891 0.7069 0.7550 0.7447 0.6901 0.7552 0.7321 het 2245.67 189 8 12878807 . T G 2245.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.991;DP=189;DS;Dels=0.00;FS=1.165;HRun=1;HaplotypeScore=4.6666;MQ=59.06;MQ0=0;MQRankSum=0.428;QD=11.88;ReadPosRankSum=1.273;VQSLOD=4.9910;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,85:189:99:2276,0,2913 8 12878830 12878830 C T exonic KIAA1456 synonymous SNV KIAA1456:NM_001099677:exon2:c.C264T:p.S88S,KIAA1456:NM_020844:exon5:c.C642T:p.S214S 0.3 0.19 0.27 0.13 0.48 0.44 0.4043 0.2076 0.1921 0.1302 0.4630 0.4745 0.4365 0.5039 0.38 0.21 0.46 0.22 . rs3739309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3966 0.2014 0.2047 0.5562 0.1271 0.4685 0.4656 0.4151 0.4968 0.3723 0.2106 0.2374 0.5861 0.1193 0.4616 0.4707 0.4552 het 1965.87 159 8 12878830 . C T 1965.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.549;DP=159;DS;Dels=0.00;FS=3.143;HRun=0;HaplotypeScore=7.0732;MQ=59.40;MQ0=0;MQRankSum=-0.061;QD=12.36;ReadPosRankSum=-1.499;VQSLOD=4.1966;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,72:159:99:1996,0,2280 8 12879062 12879062 T C exonic KIAA1456 synonymous SNV KIAA1456:NM_001099677:exon2:c.T496C:p.L166L,KIAA1456:NM_020844:exon5:c.T874C:p.L292L 0.71 0.59 0.76 0.79 0.82 0.65 0.7609 0.6191 0.7456 0.7617 0.7715 0.7998 0.7550 0.6945 0.75 0.63 0.8 0.64 . rs503550 COSM5437824;COSM5437823 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7600 0.6138 0.7522 0.7880 0.7556 0.7660 0.7979 0.7709 0.6911 0.7454 0.6243 0.7494 0.7980 0.7491 0.7567 0.8091 0.7827 het 1710.78 106 8 12879062 . T C 1710.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.860;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.56;MQ0=0;MQRankSum=0.377;QD=16.14;ReadPosRankSum=-0.307;VQSLOD=7.2524;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,61:106:99:1741,0,1130 8 12879099 12879099 G A exonic KIAA1456 nonsynonymous SNV KIAA1456:NM_001099677:exon2:c.G533A:p.G178E,KIAA1456:NM_020844:exon5:c.G911A:p.G304E 0.71 0.59 0.76 0.79 0.82 0.65 0.7610 0.6191 0.7456 0.7618 0.7718 0.7998 0.7550 0.6944 0.75 0.63 0.8 0.64 . rs502882 COSM5437822;COSM5437821 1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.880 0.088 N 1 0.090 P -1.87 0.003 N 3.18 0.075 T 1.78 0.005 N 0.015 0.002 -1.011 0.265 T 0.000 0.000 T . . . -1.194 0.025 0.007 0.282 0.014 0.003 0.015 N c -1.487 -1.368 0.019 0.132 0.554 0.283 0 1.07 0.193 1.220 0.319 -0.109 0.115 0.203 0.241 0.009 0.108 5.748 0.173 . . . 0.7600 0.6140 0.7522 0.7878 0.7555 0.7660 0.7979 0.7708 0.6910 0.7455 0.6247 0.75 0.7980 0.7491 0.7569 0.8089 0.7838 het 1541.85 94 8 12879099 . G A 1541.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.473;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5304;MQ=59.75;MQ0=0;MQRankSum=-1.708;QD=16.40;ReadPosRankSum=0.348;VQSLOD=4.5919;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,55:94:99:1572,0,1012 8 12879334 12879334 T C exonic KIAA1456 synonymous SNV KIAA1456:NM_001099677:exon2:c.T768C:p.V256V,KIAA1456:NM_020844:exon5:c.T1146C:p.V382V 0.71 0.58 0.76 0.79 0.82 0.65 0.7614 0.6102 0.7479 0.7644 0.7725 0.8006 0.7567 0.6959 0.75 0.63 0.8 0.64 . rs608909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7597 0.6030 0.7525 0.7877 0.7562 0.7664 0.7983 0.7701 0.6917 0.7424 0.6132 0.7494 0.7980 0.7478 0.7567 0.8093 0.7816 het 447.48 28 8 12879334 . T C 447.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.019;DP=28;Dels=0.00;FS=1.520;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-1.277;QD=15.98;ReadPosRankSum=0.580;VQSLOD=6.0086;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,16:28:99:477,0,337 8 12879539 12879539 A G exonic KIAA1456 nonsynonymous SNV KIAA1456:NM_001099677:exon2:c.A973G:p.R325G,KIAA1456:NM_020844:exon5:c.A1351G:p.R451G 0.7 0.56 0.76 0.79 0.82 0.65 0.7632 0.5932 0.7458 0.7615 0.7710 0.8010 0.7541 0.7147 0.74 0.6 0.8 0.62 . rs608052 . . . . . . . . . . . . . 0.282 0.154 T 0.0 0.026 B 0.0 0.013 B 0.203 0.033 N 1 0.090 P -0.11 0.046 N 2.64 0.128 T -0.52 0.162 N 0.014 0.002 -1.015 0.252 T 0.000 0.000 T . . . -0.174 0.078 1.243 0.681 0.083 0.007 0.029 N c -1.286 -1.200 0.000 0.068 0.487 0.133 0 0.894 0.183 0.209 0.171 -0.656 0.041 0.087 0.223 0.047 0.162 5.897 0.181 . . . 0.7597 0.5814 0.7524 0.7907 0.7569 0.7670 0.7986 0.7687 0.6973 0.7365 0.5922 0.7476 0.7980 0.7491 0.7569 0.8090 0.7827 het 561.71 35 8 12879539 . A G 561.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.308;DP=35;Dels=0.00;FS=1.344;HRun=1;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;MQRankSum=-0.116;QD=16.05;ReadPosRankSum=0.712;VQSLOD=5.6307;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,19:35:99:592,0,439 8 12957475 12957475 C T exonic DLC1 nonsynonymous SNV DLC1:NM_001348084:exon4:c.G838A:p.V280M,DLC1:NM_001164271:exon5:c.G838A:p.V280M,DLC1:NM_001316668:exon5:c.G1162A:p.V388M,DLC1:NM_001348083:exon5:c.G838A:p.V280M,DLC1:NM_006094:exon5:c.G1060A:p.V354M,DLC1:NM_001348082:exon8:c.G838A:p.V280M,DLC1:NM_001348081:exon9:c.G2371A:p.V791M,DLC1:NM_182643:exon9:c.G2371A:p.V791M 0.5 0.61 0.38 0.34 0.49 0.59 0.4935 0.6093 0.3043 0.3833 0.4450 0.4992 0.5220 0.6057 0.53 0.59 0.49 0.59 0.64 rs532841 COSM150456 1(stomach);3(haematopoietic_and_lymphoid_tissue);28(soft_tissue);1(pancreas);2(prostate);1(thyroid);3(large_intestine) . . . . . . . . . . . 0.322 0.198 T 0.0 0.026 B 0.0 0.040 B 0.604 0.109 N 1 0.090 P 0.11 0.085 N 3.64 0.056 T 0.55 0.027 N 0.061 0.162 -0.963 0.386 T 0.000 0.000 T . . . -0.212 0.075 1.034 0.863 0.159 0.005 0.024 N c -1.657 -1.665 1.000 0.747 0.672 0.522 0 -6.1 0.019 -0.564 0.060 -0.907 0.026 0.000 0.063 0.746 0.321 11.136 0.474 . . . 0.4839 0.6119 0.3205 0.5349 0.3852 0.4588 0.4976 0.4927 0.6037 0.5114 0.6111 0.3246 0.5695 0.3928 0.4582 0.4886 0.5020 het 2396.03 170 8 12957475 . C T 2396.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.539;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6191;MQ=58.90;MQ0=0;MQRankSum=0.395;QD=14.09;ReadPosRankSum=-1.210;VQSLOD=5.1559;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,90:170:99:2426,0,2190 8 13356802 13356802 G A exonic DLC1 nonsynonymous SNV DLC1:NM_001348081:exon2:c.C779T:p.T260I,DLC1:NM_024767:exon2:c.C779T:p.T260I,DLC1:NM_182643:exon2:c.C779T:p.T260I 0.82 0.84 0.73 0.61 0.94 0.92 0.8777 0.8617 0.6694 0.6019 0.9270 0.9375 0.9086 0.9153 0.91 0.87 0.93 0.88 0.94 rs3816747 . . . . . . . . . . . . . 0.193 0.209 T 0.0 0.026 B 0.0 0.013 B 0.151 0.030 N 1 0.090 P -1.245 0.008 N 3.65 0.120 T -0.5 0.221 N 0.034 0.036 -0.942 0.423 T 0.000 0.000 T . . . -3.066 0.001 0.001 0.699 0.088 0.016 0.051 N c -1.827 -1.884 1.000 0.747 0.615 0.372 0 -9.96 0.004 -1.093 0.034 -0.976 0.023 0.000 0.063 0.001 0.043 8.850 0.342 . . . 0.8699 0.8598 0.6845 0.9155 0.6040 0.9315 0.9386 0.8831 0.9163 0.8937 0.8611 0.7470 0.9272 0.6101 0.9408 0.9387 0.9083 hom 7090.50 228 8 13356802 . G A 7090.50 Mask AC=2;AF=1.00;AN=2;DP=228;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7614;MQ=56.35;MQ0=0;QD=31.10;VQSLOD=4.5230;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,228:228:99:7089,563,0 8 13356818 13356818 T C exonic DLC1 nonsynonymous SNV DLC1:NM_001348081:exon2:c.A763G:p.N255D,DLC1:NM_024767:exon2:c.A763G:p.N255D,DLC1:NM_182643:exon2:c.A763G:p.N255D 0.96 0.9 0.97 1. 0.96 0.99 0.9673 0.9094 0.9800 0.9994 0.9732 0.9653 0.9713 0.9835 0.95 0.91 0.96 0.17 0.96 rs11203494 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.385 0.133 N 1 0.090 P -0.955 0.012 N 3.92 0.094 T 0.54 0.028 N 0.007 0.000 -0.998 0.304 T 0.000 0.000 T . . . -2.148 0.006 0.001 0.125 0.002 0.002 0.012 N c -1.444 -1.332 1.000 0.423 0.615 0.372 0 1.93 0.249 0.409 0.207 0.069 0.176 0.000 0.063 0.003 0.074 9.908 0.404 . . . 0.9687 0.9087 0.9768 0.9537 0.9998 0.9744 0.9659 0.9671 0.9837 0.9540 0.9099 0.9761 0.9636 1 0.9785 0.9664 0.9715 hom 6899.37 228 8 13356818 . T C 6899.37 Mask AC=2;AF=1.00;AN=2;DP=228;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5570;MQ=56.38;MQ0=0;QD=30.26;VQSLOD=3.3789;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,228:228:99:6898,563,0 8 13356819 13356819 T G exonic DLC1 nonsynonymous SNV DLC1:NM_001348081:exon2:c.A762C:p.Q254H,DLC1:NM_024767:exon2:c.A762C:p.Q254H,DLC1:NM_182643:exon2:c.A762C:p.Q254H 0.76 0.68 0.72 0.61 0.94 0.85 0.8558 0.7283 0.6628 0.6015 0.9270 0.9361 0.8830 0.8497 0.86 0.74 0.93 . 0.93 rs11203495 . . . . . . . . . . . . . 0.208 0.198 T 0.005 0.119 B 0.007 0.121 B 0.548 0.115 N 1 0.090 P 1.055 0.270 L 3.38 0.150 T -0.44 0.427 N 0.154 0.184 -1.018 0.244 T 0.000 0.000 T . . . -1.363 0.020 0.004 0.822 0.136 0.051 0.108 N c -1.124 -1.233 1.000 0.747 0.615 0.372 0 -5.59 0.023 -0.422 0.071 -0.698 0.038 0.000 0.063 0.000 0.016 1.591 0.025 . . . 0.8513 0.7226 0.6767 0.9145 0.6038 0.9315 0.9371 0.8697 0.8523 0.8541 0.7255 0.7345 0.9272 0.6110 0.9408 0.9375 0.8910 hom 6991.43 231 8 13356819 . T G 6991.43 Mask AC=2;AF=1.00;AN=2;DP=231;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5570;MQ=56.43;MQ0=0;QD=30.27;VQSLOD=4.2315;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,231:231:99:6990,572,0 8 15978063 15978063 C T exonic MSR1 synonymous SNV MSR1:NM_138715:exon9:c.G1086A:p.R362R 1. 0.99 1. 1. 1. 1. 0.9992 0.9914 0.9996 1 1 1 0.9978 1 1. 0.99 1. 0.97 0.75 rs4338104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 0.9918 0.9993 1 1 1 1.0000 0.9996 1 0.9982 0.9936 1 1 1 1 1 1 hom 5615.40 193 8 15978063 . C T 5615.40 Mask AC=2;AF=1.00;AN=2;DP=193;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7064;MQ=58.82;MQ0=0;QD=29.10;VQSLOD=4.8381;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,192:193:99:5614,469,0 8 17157677 17157677 T G exonic MTMR7 nonsynonymous SNV MTMR7:NM_004686:exon14:c.A1677C:p.Q559H 0.11 0.0091 0.095 0.11 0.12 0.23 0.1161 0.0214 0.0574 0.1094 0.0751 0.1203 0.1093 0.2203 0.083 0.023 0.11 0.076 0.13 rs3764796 COSM4419219 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.179 0.220 T 0.367 0.322 B 0.135 0.316 B 0.874 0.072 N 1 0.090 P 1.61 0.413 L 0.63 0.531 T -0.66 0.191 N 0.074 0.064 -1.067 0.101 T 0.004 0.011 T . . . 0.967 0.186 10.47 0.949 0.251 0.098 0.153 N c -0.863 -0.922 0.013 0.125 0.651 0.465 0 -3.96 0.038 -1.915 0.017 0.107 0.202 0.000 0.063 0.996 0.625 8.429 0.317 . ENSG00000104219.8 Muscle_Skeletal 0.1139 0.0195 0.0560 0.2197 0.1099 0.0793 0.1129 0.1213 0.2196 0.0767 0.0202 0.0632 0.2053 0.0957 0.0879 0.1016 0.1008 het 2034.98 150 8 17157677 . T G 2034.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.829;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2775;MQ=58.69;MQ0=0;MQRankSum=0.481;QD=13.57;ReadPosRankSum=2.108;VQSLOD=4.5926;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,77:150:99:2065,0,1960 8 17230644 17230644 G C exonic MTMR7 nonsynonymous SNV MTMR7:NM_004686:exon2:c.C130G:p.P44A 0.99 0.96 1. 1. 1. 1. 0.9972 0.9698 0.9982 1 1 0.9999 0.9989 1 0.99 0.97 1. 0.98 0.89 rs7388581 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.544 0.115 N 1 0.090 P -1.795 0.003 N -1.59 0.821 D 2.13 0.004 N 0.083 0.077 -0.947 0.415 T 0.000 0.000 T . . . -3.367 0.001 0.001 0.083 0.001 0.050 0.107 N c -2.572 -2.371 0.006 0.112 0.615 0.372 0 -1.49 0.082 0.267 0.182 -2.334 0.003 0.007 0.175 0.705 0.310 0.566 0.006 PH domain-like . . 0.9978 0.9692 0.9986 0.9997 0.9999 1 0.9999 0.9991 1 0.9918 0.9714 0.9976 1 1 1 0.9998 1 hom 1400.97 48 8 17230644 . G C 1400.97 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=29.19;VQSLOD=8.7780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1434,111,0 8 17419461 17419461 G A exonic SLC7A2 nonsynonymous SNV SLC7A2:NM_001008539:exon10:c.G1513A:p.V505M,SLC7A2:NM_001164771:exon10:c.G1633A:p.V545M,SLC7A2:NM_003046:exon10:c.G1630A:p.V544M 0.017 0.0045 0.011 0.045 0.011 0.014 0.0184 0.0088 0.0082 0.0361 0.0097 0.0201 0.0232 0.0187 0.02 0.0093 0.026 0.022 0.016 rs56335308 . . . . . . . . . . . . . 0.129 0.281 T 0.256 0.353 B 0.044 0.293 B 0.282 0.149 N 1.000 0.090 N 2.23 0.633 M -2.28 0.888 D -1.12 0.289 N 0.123 0.245 -0.740 0.585 T 0.152 0.481 T . . . 0.293 0.122 5.626 0.900 0.187 0.212 0.211 N c -1.070 -1.189 0.990 0.319 0.732 0.924 0 -3.61 0.042 0.636 0.242 -0.304 0.080 0.269 0.248 0.010 0.111 14.464 0.669 . . . 0.0181 0.0093 0.0093 0.0122 0.0321 0.0091 0.0220 0.0174 0.0185 0.0151 0.0093 0.0119 0.0132 0.0247 0.0075 0.0194 0.0153 het 3130.46 250 8 17419461 . G A 3130.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.341;DP=250;DS;Dels=0.00;FS=2.824;HRun=0;HaplotypeScore=4.6201;MQ=58.61;MQ0=0;MQRankSum=-1.343;QD=12.52;ReadPosRankSum=1.400;VQSLOD=4.2259;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:131,119:250:99:3160,0,3089 8 17422481 17422481 T C exonic SLC7A2 synonymous SNV SLC7A2:NM_001008539:exon12:c.T1803C:p.Y601Y,SLC7A2:NM_001164771:exon12:c.T1923C:p.Y641Y,SLC7A2:NM_003046:exon12:c.T1920C:p.Y640Y 0.019 0.0053 0.014 0.05 0.0099 0.019 0.0205 0.0103 0.0093 0.0407 0.0098 0.0218 0.0257 0.0233 0.022 0.01 0.028 0.022 0.016 rs55755124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0196 0.0104 0.0110 0.0145 0.0365 0.0090 0.0226 0.0195 0.0219 0.0158 0.0101 0.0143 0.0132 0.0328 0.0074 0.0194 0.0143 het 343.73 47 8 17422481 . T C 343.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.593;DP=47;Dels=0.00;FS=3.038;HRun=0;HaplotypeScore=1.9970;MQ=59.11;MQ0=0;MQRankSum=1.008;QD=7.31;ReadPosRankSum=-1.383;VQSLOD=5.1991;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,15:47:99:374,0,892 8 17486282 17486282 T C exonic PDGFRL synonymous SNV PDGFRL:NM_006207:exon5:c.T792C:p.Y264Y 0.99 0.96 1. 1. 1. 1. 0.9962 0.9599 0.9982 1 1 0.9998 0.9967 0.9999 0.99 0.96 1. 0.97 1. rs2229084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9969 0.9593 0.9981 0.9999 1 1 0.9996 0.9982 0.9998 0.9880 0.9587 0.9988 1 1 1 0.9995 0.9990 hom 1348.44 48 8 17486282 . T C 1348.44 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9075;MQ=59.03;MQ0=0;QD=28.09;VQSLOD=6.8943;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1381,111,0 8 17503612 17503612 C G exonic MTUS1 synonymous SNV MTUS1:NM_001330470:exon9:c.G852C:p.S284S,MTUS1:NM_020749:exon10:c.G1134C:p.S378S,MTUS1:NM_001001931:exon12:c.G1377C:p.S459S,MTUS1:NM_001166393:exon12:c.G1071C:p.S357S,MTUS1:NM_001001925:exon14:c.G3474C:p.S1158S,MTUS1:NM_001001924:exon15:c.G3636C:p.S1212S 0.015 0.0015 0.011 . 0.039 0.029 0.0306 0.0075 0.0131 0.0001 0.0210 0.0419 0.0187 0.0306 0.029 0.0056 0.04 0.033 0.016 rs61733704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0286 0.0070 0.0137 0.0467 0.0003 0.0202 0.0405 0.0263 0.0293 0.0241 0.0076 0.0180 0.0563 0.0006 0.0182 0.0375 0.0206 het 593.20 58 8 17503612 . C G 593.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.576;DP=58;Dels=0.00;FS=1.087;HRun=1;HaplotypeScore=1.9949;MQ=58.92;MQ0=0;MQRankSum=1.701;QD=10.23;ReadPosRankSum=1.129;VQSLOD=5.8691;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,23:58:99:623,0,760 8 17513414 17513414 G A exonic MTUS1 synonymous SNV MTUS1:NM_001330470:exon3:c.C282T:p.Y94Y,MTUS1:NM_020749:exon4:c.C564T:p.Y188Y,MTUS1:NM_001001931:exon6:c.C807T:p.Y269Y,MTUS1:NM_001166393:exon6:c.C501T:p.Y167Y,MTUS1:NM_001001925:exon8:c.C2904T:p.Y968Y,MTUS1:NM_001001924:exon9:c.C3066T:p.Y1022Y 0.077 0.13 0.055 0.021 0.073 0.089 0.0756 0.1190 0.0429 0.0223 0.0266 0.0807 0.0678 0.0995 0.097 0.11 0.09 0.098 0.082 rs12224 COSM4415357;COSM4415358;COSM4415359;COSM4415356 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0726 0.1225 0.0426 0.0886 0.0230 0.0270 0.0829 0.0706 0.0992 0.0765 0.1168 0.0513 0.1093 0.0185 0.0292 0.0726 0.0530 hom 4110.22 136 8 17513414 . G A 4110.22 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;QD=30.22;VQSLOD=8.8479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4110,322,0 8 17611809 17611809 G C exonic MTUS1 nonsynonymous SNV MTUS1:NM_001001924:exon2:c.C1508G:p.P503R,MTUS1:NM_001001925:exon2:c.C1508G:p.P503R 0.0018 . 0.01 . 0.002 . 0.0011 0.0002 0.0028 0 0.0005 0.0013 0 0.0002 0.0012 0.0003 0.0016 . . rs187072799 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.629 D 1.000 0.588 D 2.19 0.618 M 0.77 0.555 T -3.91 0.730 D 0.969 0.970 -0.420 0.714 T 0.279 0.651 T . . . 5.634 0.768 26.6 0.999 0.937 0.979 0.779 D c 0.709 0.724 1.000 0.747 0.554 0.246 0 5.2 0.716 6.513 0.735 1.048 0.713 1.000 0.715 0.929 0.403 18.893 0.923 . . . 0.0010 6.542e-05 0.0023 0.0002 0 0.0003 0.0012 0.0015 9.746e-05 0.0010 0.0002 0.0060 0 0 0 0.0013 0.0041 het 2554.50 227 8 17611809 . G C 2554.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.504;DP=227;Dels=0.00;FS=4.549;HRun=0;HaplotypeScore=6.3772;MQ=59.16;MQ0=0;MQRankSum=1.721;QD=11.25;ReadPosRankSum=0.770;VQSLOD=2.8872;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,101:227:99:2584,0,3688 8 17611886 17611886 G A exonic MTUS1 synonymous SNV MTUS1:NM_001001924:exon2:c.C1431T:p.P477P,MTUS1:NM_001001925:exon2:c.C1431T:p.P477P 0.67 0.37 0.82 0.59 0.85 0.85 0.7946 0.4442 0.8668 0.6387 0.8086 0.8386 0.8111 0.8491 0.72 0.46 0.84 0.59 0.84 rs2979788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8022 0.4417 0.8571 0.8492 0.6369 0.8107 0.8409 0.8264 0.8477 0.7194 0.4595 0.8377 0.8245 0.6450 0.8219 0.8395 0.8096 het 2437.57 216 8 17611886 . G A 2437.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.266;DP=216;Dels=0.00;FS=1.054;HRun=0;HaplotypeScore=5.5170;MQ=58.95;MQ0=0;MQRankSum=-0.475;QD=11.29;ReadPosRankSum=-0.449;VQSLOD=5.2535;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,94:216:99:2468,0,3523 8 17612456 17612456 C T exonic MTUS1 synonymous SNV MTUS1:NM_001001924:exon2:c.G861A:p.K287K,MTUS1:NM_001001925:exon2:c.G861A:p.K287K 0.86 0.74 0.94 0.81 0.95 0.91 0.9224 0.7676 0.9445 0.8169 0.9460 0.9528 0.9367 0.9208 0.89 0.78 0.94 0.84 0.97 rs11203910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9252 0.7641 0.9432 0.9434 0.8208 0.9466 0.9523 0.9396 0.9219 0.8912 0.7721 0.9356 0.9567 0.8251 0.9393 0.9494 0.9398 hom 8097.80 244 8 17612456 . C T 8097.80 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.8186;MQ=58.25;MQ0=0;QD=33.19;VQSLOD=7.1618;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,244:244:99:8097,629,0 8 17612639 17612639 T C exonic MTUS1 synonymous SNV MTUS1:NM_001001924:exon2:c.A678G:p.E226E,MTUS1:NM_001001925:exon2:c.A678G:p.E226E 0.29 0.074 0.2 0.45 0.22 0.57 0.2707 0.0916 0.2145 0.4695 0.2308 0.2232 0.2389 0.5221 0.17 0.089 0.2 0.12 0.3 rs209568 COSM3982444;COSM3982445 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2686 0.0894 0.2074 0.3035 0.4741 0.2307 0.2167 0.2387 0.5192 0.1896 0.0825 0.2309 0.3046 0.4832 0.2307 0.2045 0.2159 het 2503.85 193 8 17612639 . T C 2503.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.414;DP=193;Dels=0.00;FS=0.528;HRun=0;HaplotypeScore=4.7373;MQ=59.29;MQ0=0;MQRankSum=0.666;QD=12.97;ReadPosRankSum=-0.595;VQSLOD=5.8798;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,88:193:99:2534,0,2788 8 17612846 17612846 T C exonic MTUS1 synonymous SNV MTUS1:NM_001001924:exon2:c.A471G:p.L157L,MTUS1:NM_001001925:exon2:c.A471G:p.L157L 0.13 0.064 0.23 0.15 0.15 0.11 0.1401 0.0724 0.1916 0.1537 0.1214 0.1457 0.16 0.1211 0.13 0.075 0.15 0.17 0.15 rs3739408 COSM3763219;COSM3763218 4(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1436 0.0720 0.1938 0.1696 0.1545 0.1214 0.1442 0.1600 0.1212 0.1192 0.0718 0.1647 0.1887 0.1642 0.1082 0.1387 0.1480 het 2455.94 200 8 17612846 . T C 2455.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.261;DP=200;DS;Dels=0.00;FS=2.537;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=0.386;QD=12.28;ReadPosRankSum=0.101;VQSLOD=6.5755;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,88:200:99:2486,0,3043 8 17612875 17612875 A G exonic MTUS1 nonsynonymous SNV MTUS1:NM_001001924:exon2:c.T442C:p.C148R,MTUS1:NM_001001925:exon2:c.T442C:p.C148R 0.71 0.56 0.7 0.68 0.8 0.86 0.7749 0.5861 0.7493 0.6743 0.8249 0.8087 0.7722 0.8011 0.73 0.6 0.79 0.61 0.81 rs3739407 COSM3763221;COSM3763220 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.037 0.430 D 0.082 0.475 B 0.029 0.512 B 0.655 0.105 N 1.000 0.090 P 1.65 0.424 L 2.18 0.201 T -1.9 0.443 N 0.058 0.103 -0.980 0.350 T 0.000 0.000 T . . . 1.910 0.290 15.65 0.605 0.063 0.218 0.213 N c -1.128 -1.247 1.000 0.747 0.534 0.214 0 -2.94 0.052 0.626 0.240 0.151 0.238 0.000 0.063 0.000 0.016 5.379 0.154 . . . 0.7756 0.5846 0.7446 0.7822 0.6762 0.8255 0.8087 0.7760 0.8017 0.7406 0.5873 0.7637 0.7649 0.6683 0.8310 0.8108 0.7939 het 2661.49 194 8 17612875 . A G 2661.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.377;DP=194;DS;Dels=0.00;FS=3.274;HRun=1;HaplotypeScore=1.6208;MQ=59.28;MQ0=0;MQRankSum=-2.161;QD=13.72;ReadPosRankSum=-0.281;VQSLOD=4.9556;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:95,99:194:99:2691,0,2609 8 17722223 17722223 C T exonic FGL1 nonsynonymous SNV FGL1:NM_004467:exon8:c.G817A:p.G273S,FGL1:NM_147203:exon8:c.G817A:p.G273S,FGL1:NM_201552:exon9:c.G817A:p.G273S,FGL1:NM_201553:exon9:c.G817A:p.G273S . . . . . . 3.342e-05 0 0 0 0 6.07e-05 0 0 0.0001 . 0.0001 . . rs368911782 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.629 D 1 0.810 D 2.125 0.592 M -1.29 0.795 T -5.9 0.888 D 0.818 0.806 0.317 0.878 D 0.651 0.879 D 0.089 0.753 D 6.702 0.917 32 0.998 0.910 0.902 0.508 D c 0.683 0.637 1.0 0.983 0.526 0.212 0 5.58 0.843 7.539 0.808 0.935 0.490 1.000 0.715 0.069 0.175 19.966 0.973 Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain|Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular\x2c subdomain 2 . . 2.899e-05 0 3.067e-05 0 0 0 4.594e-05 0.0002 0 3.232e-05 0.0001 0 0 0 0 0 0 het 386.52 36 8 17722223 . C T 386.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.741;DP=36;Dels=0.00;FS=3.410;HRun=0;HaplotypeScore=0.9979;MQ=59.36;MQ0=0;MQRankSum=0.271;QD=10.74;ReadPosRankSum=0.621;VQSLOD=4.9110;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,16:36:99:417,0,466 8 17739538 17739538 T C exonic FGL1 nonsynonymous SNV FGL1:NM_004467:exon3:c.A214G:p.I72V,FGL1:NM_147203:exon3:c.A214G:p.I72V,FGL1:NM_201552:exon4:c.A214G:p.I72V,FGL1:NM_201553:exon4:c.A214G:p.I72V 0.41 0.23 0.4 0.43 0.65 0.39 0.5552 0.3027 0.3111 0.4245 0.6803 0.6695 0.6380 0.4375 0.56 0.31 0.68 0.34 0.57 rs3739406 COSM5425340 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.402 0.104 T 0.001 0.102 B 0.001 0.080 B 0.843 0.090 N 1 0.090 P 2.505 0.732 M 0.72 0.510 T 0.04 0.065 N 0.019 0.182 -0.926 0.448 T 0.000 0.000 T . . . -1.812 0.011 0.002 0.577 0.057 0.494 0.282 N c -1.099 -1.056 0.999 0.380 0.487 0.133 0 -2.95 0.052 0.158 0.161 -0.244 0.091 0.997 0.399 0.221 0.222 3.677 0.078 . ENSG00000253671.1|ENSG00000253671.1|ENSG00000253944.1|ENSG00000253944.1|ENSG00000078674.13|ENSG00000253671.1|ENSG00000253671.1|ENSG00000253671.1|ENSG00000253671.1|ENSG00000253944.1|ENSG00000253671.1|ENSG00000253215.1|ENSG00000104760.12|ENSG00000253671.1|ENSG00000253671.1|ENSG00000104760.12 Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Tibial|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.5499 0.2926 0.3247 0.5520 0.4127 0.6834 0.6777 0.5852 0.4336 0.5451 0.3033 0.3525 0.5530 0.4156 0.6810 0.6715 0.6520 hom 5490.77 182 8 17739538 . T C 5490.77 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4703;MQ=58.79;MQ0=0;QD=30.17;VQSLOD=8.3206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5490,439,0 8 17743020 17743020 G A exonic FGL1 nonsynonymous SNV FGL1:NM_004467:exon2:c.C44T:p.T15I,FGL1:NM_147203:exon2:c.C44T:p.T15I,FGL1:NM_201552:exon3:c.C44T:p.T15I,FGL1:NM_201553:exon3:c.C44T:p.T15I 0.65 0.83 0.5 0.5 0.77 0.53 0.7074 0.8449 0.3857 0.5123 0.8159 0.7830 0.7885 0.5941 0.81 0.85 0.79 0.72 0.66 rs484373 COSM5021560 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P -1.04 0.011 N 0.76 0.499 T 0.48 0.030 N 0.022 0.012 -0.963 0.386 T 0.000 0.000 T . . . -1.045 0.030 0.013 0.299 0.016 0.001 0.004 N c -1.309 -1.280 0.994 0.334 0.487 0.133 0 2.39 0.284 1.108 0.305 0.240 0.266 0.001 0.137 0.001 0.043 5.197 0.145 . ENSG00000253671.1|ENSG00000253671.1|ENSG00000253944.1|ENSG00000253944.1|ENSG00000078674.13|ENSG00000253671.1|ENSG00000253671.1|ENSG00000253671.1|ENSG00000078674.13|ENSG00000253671.1|ENSG00000253671.1|ENSG00000253671.1|ENSG00000078674.13|ENSG00000253671.1|ENSG00000253671.1|ENSG00000253944.1|ENSG00000104763.13 Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Tibial|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Whole_Blood 0.6910 0.8452 0.4029 0.7338 0.4972 0.8143 0.7846 0.7213 0.5875 0.7845 0.8448 0.4532 0.7416 0.4950 0.8080 0.7944 0.7847 hom 1554.51 57 8 17743020 . G A 1554.51 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.35;MQ0=0;QD=27.27;VQSLOD=8.1063;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1588,120,0 8 17796382 17796382 A G exonic PCM1 nonsynonymous SNV PCM1:NM_001315507:exon5:c.A476G:p.N159S,PCM1:NM_001315508:exon5:c.A476G:p.N159S,PCM1:NM_006197:exon5:c.A476G:p.N159S 0.69 0.81 0.63 0.62 0.76 0.57 0.7324 0.8313 0.5082 0.6123 0.8226 0.7917 0.7996 0.6143 0.81 0.84 0.8 . . rs412750 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P . . . 3.99 0.193 T 1.0 0.015 N 0.006 0.026 -0.976 0.360 T 0.000 0.000 T . . . -1.468 0.018 0.003 0.164 0.004 0.024 0.067 N c -0.821 -0.723 1.000 0.489 0.707 0.730 0 4.85 0.622 1.426 0.343 0.125 0.212 0.971 0.341 0.007 0.100 13.113 0.585 . ENSG00000078674.13|ENSG00000253671.1|ENSG00000078674.13|ENSG00000078674.13|ENSG00000253671.1 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.7219 0.8330 0.5235 0.7434 0.6048 0.8210 0.7935 0.7475 0.6078 0.7933 0.8326 0.5493 0.7351 0.6044 0.8153 0.8004 0.7920 hom 1926.68 60 8 17796382 . A G 1926.68 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=57.56;MQ0=0;QD=32.11;VQSLOD=7.4999;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:60:99:1960,153,0 8 17796383 17796383 C T exonic PCM1 synonymous SNV PCM1:NM_001315507:exon5:c.C477T:p.N159N,PCM1:NM_001315508:exon5:c.C477T:p.N159N,PCM1:NM_006197:exon5:c.C477T:p.N159N 0.69 0.81 0.63 0.62 0.76 0.57 0.7324 0.8312 0.5080 0.6121 0.8228 0.7917 0.7996 0.6142 0.81 0.84 0.8 . . rs454755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7219 0.8330 0.5233 0.7433 0.6049 0.8210 0.7935 0.7474 0.6078 0.7932 0.8327 0.5478 0.7351 0.6039 0.8148 0.8004 0.7920 hom 1870.87 61 8 17796383 . C T 1870.87 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=57.60;MQ0=0;QD=30.67;VQSLOD=6.9083;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1904,156,0 8 17814915 17814915 A G exonic PCM1 nonsynonymous SNV PCM1:NM_001315507:exon12:c.A1789G:p.M597V,PCM1:NM_001315508:exon12:c.A1789G:p.M597V,PCM1:NM_006197:exon12:c.A1789G:p.M597V 0.69 0.81 0.63 0.63 0.76 0.57 0.7362 0.8298 0.5137 0.6401 0.8287 0.7932 0.8007 0.6159 0.81 0.84 0.8 0.73 . rs208753 COSM4415278 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.302 0.144 T 0.0 0.026 B 0.002 0.063 B 0.000 0.513 N 1.000 0.198 P 1.15 0.294 L 1.59 0.288 T -0.92 0.260 N 0.034 0.016 -1.018 0.245 T 0.000 0.000 T . . . -1.590 0.015 0.002 0.304 0.017 0.221 0.214 N c -1.433 -1.506 1.000 0.454 0.707 0.730 0 -4.09 0.037 0.475 0.217 -0.198 0.102 0.322 0.253 0.892 0.376 2.018 0.033 . ENSG00000078674.13|ENSG00000253671.1|ENSG00000253671.1|ENSG00000253944.1|ENSG00000253944.1|ENSG00000078674.13|ENSG00000253671.1|ENSG00000078674.13|ENSG00000253671.1|ENSG00000253671.1|ENSG00000078674.13|ENSG00000253671.1|ENSG00000078674.13|ENSG00000253671.1|ENSG00000253671.1|ENSG00000078674.13|ENSG00000253671.1|ENSG00000078674.13|ENSG00000104763.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.7254 0.8314 0.5242 0.7392 0.6327 0.8271 0.7952 0.7491 0.6095 0.7961 0.8299 0.5502 0.7318 0.6344 0.8192 0.8036 0.7943 hom 3615.62 116 8 17814915 . A G 3615.62 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.48;MQ0=0;QD=31.17;VQSLOD=9.3240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3615,289,0 8 17819572 17819572 C T exonic PCM1 synonymous SNV PCM1:NM_001315507:exon16:c.C2352T:p.P784P,PCM1:NM_001315508:exon16:c.C2355T:p.P785P,PCM1:NM_006197:exon16:c.C2352T:p.P784P 0.31 0.21 0.32 0.17 0.56 0.31 0.4864 0.2936 0.2738 0.1888 0.5772 0.6029 0.5192 0.3677 0.49 0.28 0.59 0.25 . rs3780103 COSM3763223 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4576 0.2668 0.2593 0.4879 0.1680 0.5710 0.5934 0.4942 0.3431 0.4660 0.2783 0.2852 0.4702 0.1594 0.5796 0.5866 0.5461 hom 1406.15 45 8 17819572 . C T 1406.15 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;QD=31.25;VQSLOD=9.5001;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1439,111,0 8 17918934 17918934 A G exonic ASAH1 nonsynonymous SNV ASAH1:NM_001127505:exon10:c.T719C:p.V240A,ASAH1:NM_004315:exon10:c.T785C:p.V262A,ASAH1:NM_177924:exon10:c.T737C:p.V246A 0.85 0.59 0.97 0.86 0.98 0.97 0.9431 0.6159 0.9723 0.8697 0.9649 0.9908 0.9438 0.9656 0.87 0.62 0.99 0.83 0.95 rs10103355 . . Benign|Benign not_specified|Farber's_lipogranulomatosis RCV000245912.1|RCV000310101.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0268255:228000:79935000 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.198 P -2.415 0.001 N -1.47 0.811 T 2.84 0.002 N 0.032 0.045 -0.943 0.421 T 0.000 0.000 T . . . 1.644 0.259 14.10 0.837 0.143 0.369 0.254 N c -0.859 -0.536 1.000 0.451 0.732 0.924 0 3.34 0.372 2.959 0.486 0.138 0.222 1.000 0.715 0.999 0.750 4.278 0.102 Choloylglycine hydrolase/NAAA C-terminal . . 0.9495 0.6050 0.9715 0.9942 0.8691 0.9667 0.9908 0.9612 0.9630 0.8760 0.6215 0.9701 1 0.8533 0.9645 0.9922 0.9603 hom 3464.24 120 8 17918934 . A G 3464.24 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.353;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6148;MQ=58.57;MQ0=0;MQRankSum=-0.050;QD=28.87;ReadPosRankSum=-0.840;VQSLOD=7.1527;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:3,117:120:99:3383,181,0 8 18257854 18257854 T C exonic NAT2 nonsynonymous SNV NAT2:NM_000015:exon2:c.T341C:p.I114T 0.29 0.29 0.36 0.038 0.45 0.35 0.3846 0.2982 0.3068 0.0379 0.4659 0.4560 0.4272 0.3522 0.4 0.3 0.45 0.28 0.43 rs1801280 . . drug response Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant RCV000000759.1 MedGen:OMIM:SNOMED_CT C1827377:243400:425079005 . . . . . . 0.048 0.400 D 0.37 0.323 B 0.5 0.458 P 0.009 0.307 N 0.946 0.273 P 2.625 0.771 M 4.26 0.026 T -4.18 0.755 D 0.255 0.313 -0.928 0.444 T 0.000 0.000 T . . . 2.851 0.403 21.6 0.990 0.502 0.743 0.361 D c -0.382 -0.497 0.000 0.029 0.549 0.223 0 0.537 0.163 3.857 0.554 0.016 0.142 0.958 0.332 0.002 0.062 4.753 0.124 . . . 0.3821 0.3028 0.3065 0.4506 0.0379 0.4668 0.4547 0.4135 0.3458 0.3827 0.2979 0.3341 0.4267 0.0349 0.4644 0.4496 0.4223 het 2365.90 195 8 18257854 . T C 2365.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.211;DP=195;Dels=0.00;FS=6.152;HRun=0;HaplotypeScore=2.9947;MQ=58.28;MQ0=0;MQRankSum=0.592;QD=12.13;ReadPosRankSum=0.229;VQSLOD=4.8522;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:99,96:195:99:2396,0,2521 8 18257994 18257994 C T exonic NAT2 synonymous SNV NAT2:NM_000015:exon2:c.C481T:p.L161L 0.27 0.24 0.34 0.037 0.44 0.32 0.3640 0.2552 0.2982 0.0379 0.4416 0.4386 0.3965 0.3141 0.37 0.25 0.43 0.28 0.36 rs1799929 COSM3763233 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3629 0.2566 0.2987 0.4399 0.0379 0.4403 0.4381 0.3936 0.3099 0.3588 0.2523 0.3254 0.4106 0.0347 0.4412 0.4346 0.4006 het 663.23 92 8 18257994 . C T 663.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.509;DP=92;Dels=0.00;FS=4.635;HRun=1;HaplotypeScore=2.8646;MQ=58.99;MQ0=0;MQRankSum=0.317;QD=7.21;ReadPosRankSum=2.324;VQSLOD=4.1752;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,27:92:99:693,0,1917 8 18258316 18258316 G A exonic NAT2 nonsynonymous SNV NAT2:NM_000015:exon2:c.G803A:p.R268K 0.68 0.61 0.63 0.96 0.56 0.64 0.6172 0.6095 0.6540 0.9598 0.5591 0.5668 0.5781 0.6439 0.58 0.6 0.58 0.7 0.49 rs1208 COSM4998006 1(pancreas);1(thymus) drug response Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant RCV000000760.1 MedGen:OMIM:SNOMED_CT C1827377:243400:425079005 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.105 0.197 N 1 0.090 P . . . 4.7 0.017 T 1.43 0.010 N 0.032 0.012 -0.997 0.308 T 0.000 0.000 T . . . -1.144 0.027 0.008 0.237 0.010 0.003 0.015 N c -1.264 -1.296 0.000 0.029 0.554 0.283 0 1.54 0.222 0.083 0.146 -0.288 0.083 0.148 0.234 0.455 0.263 4.697 0.121 . . . 0.6179 0.5995 0.6570 0.5578 0.9595 0.5560 0.5669 0.5904 0.6449 0.6012 0.6058 0.6394 0.5828 0.9654 0.5566 0.5693 0.5789 het 428.91 39 8 18258316 . G A 428.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.056;DP=39;Dels=0.00;FS=1.235;HRun=3;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;MQRankSum=1.225;QD=11.00;ReadPosRankSum=-1.592;VQSLOD=5.2841;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,18:39:99:459,0,576 8 18656805 18656805 G A exonic PSD3 synonymous SNV PSD3:NM_206909:exon5:c.C480T:p.H160H,PSD3:NM_015310:exon8:c.C2082T:p.H694H 0.22 0.24 0.17 0.3 0.16 0.17 0.1772 0.2134 0.1687 0.3012 0.2090 0.1571 0.2002 0.1632 0.17 0.2 0.16 0.15 0.2 rs2306825 COSM3763236;COSM3763235 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1780 0.2134 0.1687 0.1801 0.2980 0.2071 0.1553 0.1713 0.1653 0.1877 0.2179 0.2005 0.1391 0.2701 0.2088 0.1570 0.1802 het 974.16 89 8 18656805 . G A 974.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.114;DP=89;Dels=0.00;FS=0.845;HRun=0;HaplotypeScore=1.7552;MQ=59.06;MQ0=0;MQRankSum=-0.361;QD=10.95;ReadPosRankSum=0.353;VQSLOD=6.6698;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,38:89:99:1004,0,1221 8 18725428 18725428 A G exonic PSD3 synonymous SNV PSD3:NM_015310:exon4:c.T1390C:p.L464L 0.1 0.23 0.098 0.006 0.051 0.08 0.0734 0.2038 0.1173 0.0042 0.0461 0.0577 0.06 0.0767 0.099 0.2 0.055 0.14 0.11 rs17127370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0750 0.2069 0.1223 0.0767 0.0042 0.0474 0.0586 0.0722 0.0769 0.0971 0.2008 0.1110 0.0762 0.0019 0.0424 0.0619 0.0601 het 2094.57 146 8 18725428 . A G 2094.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.038;DP=146;DS;Dels=0.00;FS=0.632;HRun=0;HaplotypeScore=0.8941;MQ=59.49;MQ0=0;MQRankSum=-0.436;QD=14.35;ReadPosRankSum=0.765;VQSLOD=6.5831;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,74:146:99:2125,0,2006 8 18729459 18729459 T C exonic PSD3 synonymous SNV PSD3:NM_015310:exon3:c.A915G:p.E305E 0.29 0.37 0.24 0.31 0.17 0.34 0.2175 0.3502 0.2552 0.3147 0.1521 0.1638 0.1922 0.3058 0.21 0.32 0.16 0.25 0.21 rs13273954 COSM3982454 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2187 0.3510 0.2586 0.2183 0.3101 0.1589 0.1636 0.2110 0.3028 0.2311 0.3461 0.2446 0.2119 0.2869 0.1573 0.1759 0.2169 het 2112.73 154 8 18729459 . T C 2112.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.832;DP=154;DS;Dels=0.00;FS=1.309;HRun=0;HaplotypeScore=2.8051;MQ=59.13;MQ0=0;MQRankSum=-0.841;QD=13.72;ReadPosRankSum=1.036;VQSLOD=6.1831;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,74:154:99:2143,0,2271 8 18729529 18729529 C G exonic PSD3 nonsynonymous SNV PSD3:NM_015310:exon3:c.G845C:p.G282A 0.074 0.11 0.1 0.001 0.052 0.11 0.0684 0.1087 0.1122 0.0022 0.0461 0.0594 0.0557 0.0943 0.067 0.091 0.056 0.043 0.09 rs78452893 . . . . . . . . . . . . . 0.181 0.219 T 0.088 0.235 B 0.034 0.212 B 0.647 0.105 N 1 0.090 N 0.345 0.112 N 1.59 0.288 T -0.01 0.114 N 0.036 0.077 -1.000 0.298 T 0.001 0.003 T . . . -1.288 0.022 0.005 0.375 0.025 0.054 0.111 N c -1.308 -1.268 0.998 0.362 0.615 0.372 0 1.83 0.242 0.054 0.140 -0.696 0.038 0.000 0.063 0.005 0.090 3.858 0.084 . . . 0.0708 0.1062 0.1170 0.0737 0.0023 0.0478 0.0605 0.0692 0.0944 0.0699 0.1045 0.1038 0.0728 0.0006 0.0432 0.0624 0.0551 het 1415.01 108 8 18729529 . C G 1415.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.847;DP=108;Dels=0.00;FS=3.750;HRun=0;HaplotypeScore=4.3488;MQ=58.93;MQ0=0;MQRankSum=-0.333;QD=13.10;ReadPosRankSum=0.564;VQSLOD=4.6865;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,54:108:99:1445,0,1497 8 18729817 18729817 G A exonic PSD3 nonsynonymous SNV PSD3:NM_015310:exon3:c.C557T:p.T186M 0.85 0.93 0.8 0.98 0.67 0.85 0.7560 0.9137 0.8494 0.9854 0.5286 0.6897 0.7189 0.8383 0.41 0.57 0.34 . 0.74 rs7016219 . . . . . . . . . . . . . 0.211 0.195 T 0.071 0.224 B 0.022 0.184 B 0.000 0.005 N 1 0.090 P 0.55 0.145 N 1.45 0.325 T -0.02 0.136 N 0.013 0.023 -0.977 0.357 T 0.000 0.000 T . . . -0.734 0.043 0.060 0.753 0.107 0.045 0.100 N c -1.727 -1.742 1.000 0.467 0.615 0.372 0 -4.68 0.031 -0.716 0.051 -2.642 0.002 0.000 0.063 0.004 0.083 9.031 0.352 . . . 0.7556 0.9144 0.8431 0.7941 0.9850 0.5356 0.6915 0.7298 0.8364 0.7492 0.9075 0.8218 0.79 0.9827 0.5353 0.6814 0.6783 het 1533.21 115 8 18729817 . G A 1533.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.017;DP=115;Dels=0.00;FS=0.721;HRun=0;HaplotypeScore=0.9989;MQ=58.49;MQ0=0;MQRankSum=0.641;QD=13.33;ReadPosRankSum=0.003;VQSLOD=6.1472;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,55:115:99:1563,0,1596 8 18729818 18729818 T G exonic PSD3 nonsynonymous SNV PSD3:NM_015310:exon3:c.A556C:p.T186P 0.86 0.94 0.8 0.98 0.67 0.85 0.7560 0.9137 0.8494 0.9854 0.5286 0.6897 0.7189 0.8383 0.26 0.34 0.22 . 0.74 rs7003060 . . . . . . . . . . . . . 0.333 0.130 T 0.0 0.026 B 0.0 0.013 B 0.000 0.005 N 1 0.090 P -0.255 0.038 N 1.47 0.320 T 1.36 0.012 N 0.023 0.035 -0.981 0.348 T 0.000 0.000 T . . . -0.974 0.033 0.018 0.880 0.171 0.015 0.049 N c -1.439 -1.442 1.000 0.451 0.615 0.372 0 -3.96 0.038 -0.120 0.105 -0.621 0.043 0.000 0.063 0.011 0.114 1.042 0.014 . . . 0.7556 0.9144 0.8431 0.7941 0.9850 0.5356 0.6915 0.7298 0.8364 0.7494 0.9076 0.8218 0.79 0.9827 0.5353 0.6819 0.6783 het 1622.98 118 8 18729818 . T G 1622.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.235;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=58.50;MQ0=0;MQRankSum=2.172;QD=13.75;ReadPosRankSum=-0.597;VQSLOD=5.8171;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,58:118:99:1653,0,1578 8 19221700 19221700 G A exonic SH2D4A nonsynonymous SNV SH2D4A:NM_001174160:exon6:c.G689A:p.S230N,SH2D4A:NM_001174159:exon7:c.G824A:p.S275N,SH2D4A:NM_022071:exon7:c.G824A:p.S275N 0.18 0.095 0.24 0.059 0.31 0.24 0.2605 0.1199 0.2199 0.0516 0.2781 0.3181 0.3018 0.2443 0.25 0.13 0.31 0.16 0.2 rs34608771 COSM5034179 1(skin) . . . . . . . . . . . 0.398 0.105 T 0.003 0.102 B 0.003 0.080 B 0.358 0.137 N 1 0.090 P 1.62 0.416 L 2.62 0.945 T -0.46 0.187 N 0.023 0.016 -1.077 0.079 T 0.000 0.000 T . . . -0.026 0.091 2.341 0.961 0.282 0.051 0.108 N c -0.904 -0.869 0.975 0.296 0.638 0.428 0 3.94 0.446 0.069 0.143 0.045 0.158 0.000 0.063 0.001 0.043 7.930 0.289 . . . 0.2606 0.1146 0.2300 0.2936 0.0538 0.2784 0.3200 0.2691 0.2431 0.2456 0.1240 0.2601 0.2417 0.0481 0.2742 0.3295 0.2602 hom 3786.42 122 8 19221700 . G A 3786.42 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.675;DP=122;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.6951;MQ=58.89;MQ0=0;MQRankSum=1.446;QD=31.04;ReadPosRankSum=-0.816;VQSLOD=7.9041;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,121:122:99:3786,310,0 8 19362768 19362768 C T exonic CSGALNACT1 nonsynonymous SNV CSGALNACT1:NM_001130518:exon4:c.G578A:p.S193N,CSGALNACT1:NM_018371:exon4:c.G578A:p.S193N 0.75 0.63 0.86 0.86 0.8 0.7 0.7966 0.6223 0.9032 0.8532 0.8540 0.8088 0.7930 0.7299 0.74 0.62 0.81 0.74 0.72 rs7017776 COSM4162882 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.149 0.180 N 1.000 0.090 P 1.11 0.288 L 2.48 0.147 T 0.91 0.016 N 0.016 0.003 -0.974 0.364 T 0.000 0.000 T . . . -1.581 0.015 0.002 0.249 0.011 0.056 0.114 N c -1.602 -1.512 1.000 0.500 0.563 0.310 0 -3.65 0.042 -0.879 0.043 -0.517 0.050 0.018 0.193 0.731 0.317 14.514 0.673 . ENSG00000147408.10|ENSG00000147408.10|ENSG00000147408.10 Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8047 0.6178 0.9008 0.7554 0.8526 0.8530 0.8098 0.8018 0.7288 0.7620 0.6195 0.8878 0.78 0.8578 0.8475 0.8046 0.8002 het 1848.47 133 8 19362768 . C T 1848.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.890;DP=133;Dels=0.00;FS=1.411;HRun=1;HaplotypeScore=6.2594;MQ=58.72;MQ0=0;MQRankSum=-2.083;QD=13.90;ReadPosRankSum=-0.311;VQSLOD=3.8006;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,73:133:99:1878,0,1585 8 20036713 20036713 A G exonic SLC18A1 nonsynonymous SNV SLC18A1:NM_003053:exon3:c.T407C:p.I136T,SLC18A1:NM_001135691:exon4:c.T407C:p.I136T,SLC18A1:NM_001142324:exon4:c.T407C:p.I136T,SLC18A1:NM_001142325:exon4:c.T407C:p.I136T 0.74 0.93 0.56 0.71 0.75 0.66 0.7268 0.9079 0.4881 0.7224 0.7121 0.7543 0.7632 0.6747 0.81 0.91 0.76 0.83 0.78 rs1390938 . . . . . . . . . . . . . 0.335 0.143 T 0.0 0.186 B 0.0 0.181 B 0.000 0.843 D 0.999 0.217 P -1.1 0.010 N 0.36 0.579 T 3.03 0.001 N 0.111 0.397 -0.990 0.326 T 0.000 0.000 T . . . 1.178 0.208 11.63 0.887 0.176 0.900 0.505 D c -0.591 -0.364 1.000 0.439 0.447 0.083 0 5.95 0.964 5.637 0.673 0.152 0.238 1.000 0.715 0.344 0.245 10.934 0.463 Major facilitator superfamily domain . . 0.7133 0.9128 0.4953 0.8120 0.7219 0.7089 0.7523 0.7230 0.6751 0.7744 0.9129 0.5431 0.8278 0.7230 0.7057 0.7325 0.6920 hom 3521.79 110 8 20036713 . A G 3521.79 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=59.07;MQ0=0;QD=32.02;VQSLOD=9.5818;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3521,280,0 8 20038466 20038466 T G exonic SLC18A1 nonsynonymous SNV SLC18A1:NM_003053:exon2:c.A10C:p.T4P,SLC18A1:NM_001135691:exon3:c.A10C:p.T4P,SLC18A1:NM_001142324:exon3:c.A10C:p.T4P,SLC18A1:NM_001142325:exon3:c.A10C:p.T4P 0.25 0.1 0.3 0.25 0.36 0.28 0.3596 0.1727 0.3353 0.3023 0.3522 0.4103 0.3301 0.3229 0.29 0.16 0.36 0.23 0.12 rs2270641 COSM330538 1(haematopoietic_and_lymphoid_tissue);1(thyroid);3(large_intestine) . . . . . . . . . . . 0.234 0.184 T 0.001 0.270 B 0.001 0.203 B 0.808 0.068 N 1 0.090 P 1.445 0.365 L 3.93 0.044 T -0.96 0.275 N 0.066 0.200 -0.908 0.471 T 0.000 0.000 T . . . -0.108 0.084 1.671 0.885 0.175 0.117 0.166 N c -1.083 -1.067 0.266 0.188 0.497 0.185 0 0.564 0.164 -0.759 0.048 -0.216 0.099 0.000 0.063 0.004 0.083 8.823 0.340 . ENSG00000036565.10|ENSG00000036565.10 Spleen|Whole_Blood 0.3203 0.1472 0.2645 0.3947 0.2412 0.3209 0.3693 0.3395 0.3023 0.2841 0.1469 0.2739 0.3907 0.2398 0.3392 0.3518 0.3248 het 78.95 15 8 20038466 . T G 78.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.061;DP=15;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7998;MQ=58.45;MQ0=0;MQRankSum=-0.778;QD=5.26;ReadPosRankSum=-0.495;VQSLOD=3.9461;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,4:15:99:109,0,245 8 20110641 20110641 C T exonic LZTS1 synonymous SNV LZTS1:NM_021020:exon2:c.G801A:p.E267E 0.36 0.38 0.22 0.46 0.32 0.35 0.3499 0.4053 0.2084 0.4403 0.3995 0.3497 0.3371 0.3513 0.37 0.4 0.35 0.28 0.3 rs2645386 COSM3982461 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3418 0.3975 0.2171 0.2886 0.4421 0.3977 0.3493 0.3224 0.3485 0.3577 0.3908 0.2254 0.2318 0.4300 0.3836 0.3344 0.3593 het 1652.06 116 8 20110641 . C T 1652.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.268;DP=116;Dels=0.00;FS=2.431;HRun=1;HaplotypeScore=4.4659;MQ=59.80;MQ0=0;MQRankSum=-0.221;QD=14.24;ReadPosRankSum=-0.332;VQSLOD=4.7926;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,61:116:99:1682,0,1569 8 21550800 21550800 A T exonic GFRA2 nonsynonymous SNV GFRA2:NM_001165039:exon7:c.T986A:p.L329Q,GFRA2:NM_001165038:exon8:c.T1070A:p.L357Q,GFRA2:NM_001495:exon9:c.T1385A:p.L462Q 0.37 0.34 0.32 0.43 0.4 0.36 0.3867 0.3417 0.2871 0.4475 0.3407 0.4058 0.4172 0.3908 0.38 0.33 0.4 0.36 . rs1128397 COSM3982465 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.029 0.457 D 0.994 0.689 D 0.804 0.606 P 0.003 0.362 N 0.083 0.383 P 1.995 0.543 M 1.61 0.384 T -1.59 0.471 N 0.178 0.287 -0.931 0.440 T 0.000 0.000 T . . . 4.839 0.650 24.8 0.993 0.567 0.748 0.363 D c 0.223 0.137 0.002 0.089 0.615 0.372 0 2.85 0.322 2.344 0.434 1.088 0.866 0.999 0.424 0.640 0.296 9.679 0.390 GDNF/GAS1 . . 0.3815 0.3362 0.2903 0.4447 0.4468 0.3368 0.4060 0.3894 0.3896 0.3868 0.3410 0.3053 0.4702 0.4458 0.3335 0.4201 0.4204 het 879.08 77 8 21550800 . A T 879.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.248;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8197;MQ=58.61;MQ0=0;MQRankSum=-0.663;QD=11.42;ReadPosRankSum=0.663;VQSLOD=5.4102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,35:77:99:909,0,1252 8 21833965 21833965 C T exonic XPO7 synonymous SNV XPO7:NM_015024:exon7:c.C696T:p.I232I 0.29 0.22 0.21 0.4 0.46 0.18 0.3570 0.2648 0.1633 0.4170 0.4545 0.4286 0.3608 0.1879 0.37 0.27 0.42 0.33 . rs2306641 COSM5425530;COSM5425529;COSM5425528 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3526 0.2621 0.1796 0.3864 0.4173 0.4478 0.4291 0.3660 0.1900 0.3809 0.2609 0.2129 0.4338 0.4422 0.4602 0.4337 0.3845 het 3072.12 209 8 21833965 . C T 3072.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.693;DP=209;DS;Dels=0.00;FS=1.833;HRun=1;HaplotypeScore=4.7364;MQ=59.25;MQ0=0;MQRankSum=1.740;QD=14.70;ReadPosRankSum=1.055;VQSLOD=5.2558;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,110:209:99:3102,0,2466 8 21846586 21846586 G C exonic XPO7 synonymous SNV XPO7:NM_015024:exon16:c.G1860C:p.L620L 0.58 0.76 0.44 0.52 0.6 0.47 0.5356 0.7442 0.3856 0.5369 0.5434 0.5521 0.4955 0.4465 0.61 0.73 0.55 0.72 . rs2306646 COSM3763247;COSM3763245;COSM3763246 1(breast);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5246 0.7415 0.3963 0.4869 0.5370 0.5420 0.5543 0.5294 0.4414 0.5979 0.7316 0.4135 0.5199 0.5617 0.5485 0.5501 0.5523 het 450.24 44 8 21846586 . G C 450.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.355;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=-1.332;QD=10.23;ReadPosRankSum=0.483;VQSLOD=6.1700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,20:44:99:480,0,696 8 21862551 21862551 A G exonic XPO7 synonymous SNV XPO7:NM_015024:exon28:c.A3216G:p.S1072S 0.58 0.76 0.44 0.53 0.6 0.46 0.5342 0.7405 0.3821 0.5577 0.5417 0.5507 0.4944 0.4385 0.61 0.73 0.55 0.72 . rs1058486 COSM4162894;COSM4162895;COSM4162893 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5255 0.7392 0.3942 0.4859 0.5580 0.5403 0.5548 0.5301 0.4382 0.5964 0.7284 0.4106 0.5170 0.5791 0.5455 0.5483 0.5492 het 2727.53 250 8 21862551 . A G 2727.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.785;DP=250;DS;Dels=0.00;FS=2.260;HRun=0;HaplotypeScore=7.3308;MQ=58.61;MQ0=0;MQRankSum=1.043;QD=10.91;ReadPosRankSum=0.248;VQSLOD=4.8495;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:2758,0,3612 8 21955116 21955116 C T exonic FAM160B2 synonymous SNV FAM160B2:NM_022749:exon4:c.C387T:p.V129V 0.37 0.36 0.26 0.37 0.39 0.43 0.4195 0.3908 0.2253 0.3976 0.3776 0.4408 0.4760 0.4882 0.39 0.34 0.41 0.32 . rs11352 COSM4162899 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3791 0.3571 0.2108 0.4727 0.3656 0.3292 0.4148 0.3851 0.4610 0.3835 0.3511 0.2434 0.4868 0.3605 0.3301 0.4223 0.3934 het 349.76 19 8 21955116 . C T 349.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.171;DP=19;Dels=0.00;FS=1.952;HRun=1;HaplotypeScore=0.0000;MQ=57.85;MQ0=0;MQRankSum=-0.234;QD=18.41;ReadPosRankSum=-1.452;VQSLOD=3.2923;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,12:19:99:380,0,137 8 21956108 21956108 A G exonic FAM160B2 nonsynonymous SNV FAM160B2:NM_022749:exon7:c.A943G:p.T315A 0.38 0.37 0.27 0.38 0.4 0.44 0.4608 0.4191 0.2707 0.4365 0.3887 0.4857 0.5 0.5074 0.39 0.34 0.42 0.41 . rs35497596 COSM454296;COSM454297 1(liver);1(thyroid) . . . . . . . . . . . 0.343 0.126 T 0.001 0.067 B 0.013 0.154 B 0.495 0.120 N 1 0.090 P 0.52 0.136 N 0.01 0.625 T -0.93 0.249 N 0.006 0.000 -0.994 0.315 T 0.000 0.000 T . . . -0.456 0.058 0.282 0.744 0.103 0.019 0.058 N c -1.473 -1.511 1.000 0.747 0.672 0.522 0 -6.05 0.020 -1.151 0.033 -0.683 0.039 0.000 0.063 0.042 0.158 10.622 0.445 . ENSG00000173566.9|ENSG00000173566.9|ENSG00000158863.17|ENSG00000173566.9|ENSG00000256586.1|ENSG00000158863.17|ENSG00000173566.9|ENSG00000173566.9|ENSG00000173566.9|ENSG00000173566.9|ENSG00000173566.9|ENSG00000158863.17|ENSG00000173566.9 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.3887 0.3638 0.2176 0.4818 0.3774 0.3356 0.4287 0.3908 0.4637 0.3954 0.3620 0.2476 0.5033 0.3755 0.3400 0.4354 0.4070 hom 576.21 19 8 21956108 . A G 576.21 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.33;VQSLOD=13.3571;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:48.14:609,48,0 8 21965113 21965113 T C exonic NUDT18 nonsynonymous SNV NUDT18:NM_024815:exon5:c.A670G:p.M224V 0.55 0.53 0.66 0.62 0.46 0.55 0.5141 0.5161 0.7424 0.6313 0.5796 0.4558 0.4675 0.5032 0.47 0.51 0.46 0.48 . rs3739435 . . . . . . . . . . . . . . . . . . . . . . 0.548 0.115 N 1 0.090 P 1.185 0.302 L . . . . . . 0.046 0.223 -0.939 0.429 T 0.000 0.000 T . . . -3.587 0.000 0.001 0.398 0.027 0.142 0.181 N c -1.182 -1.307 1.000 0.480 0.635 0.413 0 -2.23 0.065 -0.690 0.052 -0.317 0.077 0.000 0.063 0.553 0.280 4.996 0.135 . ENSG00000173566.9|ENSG00000173566.9|ENSG00000173566.9|ENSG00000173566.9|ENSG00000256586.1|ENSG00000158863.17|ENSG00000173566.9|ENSG00000173566.9|ENSG00000256586.1|ENSG00000158863.17|ENSG00000173566.9|ENSG00000173566.9|ENSG00000173566.9|ENSG00000173566.9|ENSG00000173566.9|ENSG00000158863.17|ENSG00000173566.9|ENSG00000173566.9|ENSG00000173566.9 Adrenal_Gland|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Whole_Blood 0.5220 0.5191 0.7200 0.3877 0.6289 0.5764 0.4528 0.5015 0.5052 0.5037 0.5174 0.6938 0.4033 0.6354 0.5838 0.4534 0.5154 het 1635.73 116 8 21965113 . T C 1635.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.756;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0744;MQ=58.43;MQ0=0;MQRankSum=1.643;QD=14.10;ReadPosRankSum=-0.295;VQSLOD=5.6969;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,58:116:99:1666,0,1546 8 21984650 21984650 A G exonic HR synonymous SNV HR:NM_005144:exon3:c.T1305C:p.F435F,HR:NM_018411:exon3:c.T1305C:p.F435F 0.58 0.69 0.49 0.39 0.6 0.66 0.6123 0.7071 0.4906 0.3950 0.6308 0.6322 0.6590 0.6673 0.65 0.71 0.62 0.52 0.64 rs12675745 COSM454302 2(haematopoietic_and_lymphoid_tissue) Benign|Benign Alopecia_universalis|Atrichia_with_papular_lesions RCV000315361.1|RCV000408117.1 MedGen:SNOMED_CT|MedGen:OMIM:Orphanet CN042593:86166000|C1859592:209500:ORPHA86819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6035 0.7056 0.5031 0.6942 0.3951 0.6237 0.6250 0.5974 0.6628 0.6444 0.7050 0.5215 0.6987 0.3917 0.6343 0.6451 0.6347 hom 5145.54 159 8 21984650 . A G 5145.54 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8000;MQ=59.18;MQ0=0;QD=32.36;VQSLOD=8.5366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5145,412,0 8 21984945 21984945 C T exonic HR nonsynonymous SNV HR:NM_005144:exon3:c.G1010A:p.G337D,HR:NM_018411:exon3:c.G1010A:p.G337D 0.3 0.19 0.21 0.37 0.3 0.43 0.3205 0.1971 0.1509 0.3677 0.2814 0.3381 0.3627 0.4336 0.28 0.2 0.32 0.27 0.2 rs12675375 COSM454303 1(pancreas) Benign|Benign Alopecia_universalis|Atrichia_with_papular_lesions RCV000268622.1|RCV000360940.1 MedGen:SNOMED_CT|MedGen:OMIM:Orphanet CN042593:86166000|C1859592:209500:ORPHA86819 . . . . . . 0.615 0.054 T 0.011 0.147 B 0.011 0.145 B 0.321 0.143 N 1 0.090 P -0.035 0.050 N -0.45 0.699 T 0.09 0.085 N 0.05 0.031 -1.006 0.280 T 0.000 0.000 T . . . -0.243 0.073 0.890 0.669 0.080 0.032 0.081 N c -1.226 -1.149 1.000 0.422 0.598 0.340 0 1.65 0.229 -0.069 0.114 -0.962 0.024 0.000 0.063 0.257 0.229 4.601 0.117 . ENSG00000168453.10|ENSG00000173566.9|ENSG00000173566.9|ENSG00000173566.9|ENSG00000168453.10|ENSG00000173566.9 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid 0.3148 0.1956 0.1698 0.4387 0.3694 0.2825 0.3301 0.3119 0.4307 0.2844 0.1980 0.1998 0.4567 0.3650 0.2867 0.3245 0.3200 het 870.31 56 8 21984945 . C T 870.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.647;DP=56;Dels=0.00;FS=6.921;HRun=0;HaplotypeScore=1.9981;MQ=60.00;MQ0=0;MQRankSum=1.166;QD=15.54;ReadPosRankSum=0.533;VQSLOD=4.4363;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,33:56:99:900,0,532 8 21996199 21996199 G A exonic REEP4 nonsynonymous SNV REEP4:NM_025232:exon7:c.C661T:p.R221C 0.0036 . 0.0058 . 0.005 0.0092 0.0055 0.0015 0.0033 0.0001 0.0014 0.0061 0.0044 0.0115 0.0043 0.0016 0.0057 . 0.025 rs117450750 . . . . . . . . . . . . . 0.001 0.784 D 0.004 0.112 B 0.001 0.040 B 0.000 0.559 D 0.958 0.516 D 3.115 0.881 M -2.44 0.888 D -3.37 0.666 D 0.458 0.510 -0.169 0.785 T 0.478 0.800 T . . . 6.525 0.899 31 0.999 0.965 0.868 0.459 D c -0.210 -0.134 1.000 0.500 0.722 0.854 0 4.13 0.475 1.672 0.369 0.953 0.551 0.998 0.411 0.841 0.351 6.406 0.207 . . . 0.0055 0.0010 0.0038 0.0029 0.0001 0.0015 0.0067 0.0051 0.0121 0.0037 0.0016 0.0060 0 0 0.0003 0.0059 0.0041 het 1121.25 72 8 21996199 . G A 1121.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.040;DP=72;Dels=0.00;FS=7.017;HRun=0;HaplotypeScore=1.7880;MQ=59.10;MQ0=0;MQRankSum=-0.185;QD=15.57;ReadPosRankSum=2.596;VQSLOD=3.2652;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,45:72:99:1151,0,619 8 22079355 22079355 A G exonic PHYHIP synonymous SNV PHYHIP:NM_014759:exon5:c.T504C:p.S168S,PHYHIP:NM_001099335:exon6:c.T504C:p.S168S 1. 1. 1. 0.99 1. 1. 0.9994 0.9996 1 0.9950 1 0.9997 1 0.9999 1. 1. 1. 1. 0.31 rs4872422 COSM3763252 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 0.9997 0.9999 1 0.9934 1 0.9998 0.9995 0.9999 0.9994 0.9997 0.9988 1 0.9908 1 0.9999 1 hom 332.29 13 8 22079355 . A G 332.29 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.07;MQ0=0;QD=25.56;VQSLOD=6.7891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:30.09:365,30,0 8 22105502 22105502 T C exonic POLR3D synonymous SNV POLR3D:NM_001722:exon4:c.T342C:p.A114A 0.71 0.45 0.76 0.83 0.72 0.88 0.7356 0.4817 0.8458 0.8275 0.7943 0.7048 0.7605 0.8699 0.62 0.48 0.69 0.6 0.66 rs1126677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7449 0.4780 0.8370 0.6971 0.8310 0.7975 0.7008 0.7405 0.8664 0.6662 0.4888 0.8138 0.6755 0.8346 0.7857 0.7099 0.7434 hom 3373.34 109 8 22105502 . T C 3373.34 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8300;MQ=59.39;MQ0=0;QD=30.95;VQSLOD=8.6097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:109:99:3334,283,0 8 22262321 22262321 T C exonic SLC39A14 nonsynonymous SNV SLC39A14:NM_001128431:exon2:c.T98C:p.L33P,SLC39A14:NM_001135153:exon2:c.T98C:p.L33P,SLC39A14:NM_001135154:exon2:c.T98C:p.L33P,SLC39A14:NM_001351659:exon2:c.T128C:p.L43P,SLC39A14:NM_001351660:exon2:c.T98C:p.L33P,SLC39A14:NM_015359:exon2:c.T98C:p.L33P,SLC39A14:NM_001351655:exon3:c.T98C:p.L33P,SLC39A14:NM_001351658:exon3:c.T128C:p.L43P,SLC39A14:NM_001351656:exon4:c.T98C:p.L33P,SLC39A14:NM_001351657:exon4:c.T128C:p.L43P 0.63 0.76 0.53 0.7 0.5 0.58 0.5313 0.7301 0.5027 0.7020 0.5337 0.4812 0.5243 0.5384 0.55 0.71 0.47 0.6 0.49 rs896378 COSM5000703;COSM5000702 1(pancreas) . . . . . . . . . . . 0.326 0.189 T 0.0 0.026 B 0.0 0.013 B 0.079 0.023 N 1 0.090 P 0.69 0.170 N -0.28 0.679 T -0.26 0.247 N 0.061 0.413 -0.942 0.424 T 0.000 0.000 T . . . -0.184 0.077 1.183 0.681 0.083 0.004 0.020 N c -1.374 -1.391 0.999 0.389 0.707 0.730 0 -2.43 0.061 -2.264 0.012 -0.328 0.075 0.000 0.063 0.000 0.016 2.135 0.035 . ENSG00000197181.7|ENSG00000197181.7|ENSG00000104635.9|ENSG00000197181.7|ENSG00000120910.10 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Muscle_Skeletal|Testis 0.5253 0.7356 0.5020 0.4826 0.7032 0.5352 0.4757 0.5005 0.5375 0.5713 0.7308 0.4928 0.45 0.7150 0.5422 0.4800 0.5174 het 2636.23 207 8 22262321 . T C 2636.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.001;DP=207;Dels=0.00;FS=1.722;HRun=3;HaplotypeScore=4.8768;MQ=59.71;MQ0=0;MQRankSum=0.462;QD=12.74;ReadPosRankSum=0.969;VQSLOD=5.4667;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,105:207:99:2666,0,2720 8 22262418 22262418 A G exonic SLC39A14 synonymous SNV SLC39A14:NM_001128431:exon2:c.A195G:p.L65L,SLC39A14:NM_001135153:exon2:c.A195G:p.L65L,SLC39A14:NM_001135154:exon2:c.A195G:p.L65L,SLC39A14:NM_001351659:exon2:c.A225G:p.L75L,SLC39A14:NM_001351660:exon2:c.A195G:p.L65L,SLC39A14:NM_015359:exon2:c.A195G:p.L65L,SLC39A14:NM_001351655:exon3:c.A195G:p.L65L,SLC39A14:NM_001351658:exon3:c.A225G:p.L75L,SLC39A14:NM_001351656:exon4:c.A195G:p.L65L,SLC39A14:NM_001351657:exon4:c.A225G:p.L75L 0.67 0.83 0.56 0.78 0.51 0.61 0.5533 0.7904 0.5629 0.7759 0.5358 0.4835 0.5408 0.5701 0.57 0.77 0.47 0.56 0.52 rs2293144 COSM5619113;COSM4162912;COSM4162911 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5478 0.7976 0.5567 0.4981 0.7810 0.5362 0.4775 0.5164 0.5679 0.5963 0.7918 0.5513 0.4669 0.7922 0.5436 0.4828 0.5297 het 2090.89 129 8 22262418 . A G 2090.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.752;DP=129;Dels=0.00;FS=1.443;HRun=0;HaplotypeScore=1.6609;MQ=59.64;MQ0=0;MQRankSum=-0.879;QD=16.21;ReadPosRankSum=-0.559;VQSLOD=6.2853;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,67:129:99:2121,0,1526 8 22428658 22428658 T C exonic SORBS3 nonsynonymous SNV SORBS3:NM_001018003:exon7:c.T641C:p.I214T,SORBS3:NM_005775:exon18:c.T1667C:p.I556T 0.91 0.73 0.95 1. 0.96 0.97 0.9451 0.75 0.9737 1 0.9706 0.9533 0.9524 0.9693 0.88 0.75 0.95 0.76 0.91 rs2449331 COSM3750126 1(thyroid);4(large_intestine) . . . . . . . . . . . 0.773 0.033 T 0.0 0.026 B 0.0 0.013 B 0.030 0.253 N 1 0.090 P -2.42 0.001 N 3.45 0.126 T -0.03 0.075 N 0.007 0.536 -0.978 0.356 T 0.000 0.000 T . . . -1.088 0.029 0.011 0.554 0.052 0.007 0.029 N c -0.905 -0.848 1.000 0.500 0.732 0.924 0 4.68 0.582 0.912 0.280 0.069 0.176 0.000 0.063 0.090 0.185 7.689 0.276 . . . 0.9496 0.7429 0.9721 0.9341 0.9999 0.9698 0.9551 0.9486 0.9708 0.8994 0.7518 0.9713 0.9437 1 0.9674 0.9505 0.9443 hom 2735.53 87 8 22428658 . T C 2735.53 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7808;MQ=59.04;MQ0=0;QD=31.44;VQSLOD=8.5718;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2769,223,0 8 22428708 22428708 A G exonic SORBS3 nonsynonymous SNV SORBS3:NM_001018003:exon7:c.A691G:p.T231A,SORBS3:NM_005775:exon18:c.A1717G:p.T573A 0.13 0.064 0.14 0.028 0.21 0.21 0.1833 0.0772 0.1680 0.0241 0.3046 0.1924 0.2222 0.2672 0.14 0.074 0.17 0.033 0.074 rs1047030 . . . . . . . . . . . . . 0.08 0.335 T 0.0 0.026 B 0.001 0.040 B 0.563 0.054 N 1.000 0.191 P 0.57 0.153 N 3.37 0.136 T -1.14 0.293 N 0.093 0.402 -0.938 0.429 T 0.000 0.000 T . . . -1.233 0.024 0.006 0.434 0.032 0.110 0.162 N c -1.554 -1.602 1.000 0.517 0.732 0.924 0 -5.08 0.027 -0.231 0.090 -0.293 0.083 0.000 0.063 0.160 0.208 1.634 0.025 . . . 0.1771 0.0725 0.1669 0.1073 0.0245 0.3005 0.1937 0.1761 0.2453 0.1625 0.0746 0.1683 0.1216 0.0213 0.2852 0.1984 0.2027 het 638.05 81 8 22428708 . A G 638.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.948;DP=81;Dels=0.00;FS=5.526;HRun=0;HaplotypeScore=0.9933;MQ=59.00;MQ0=0;MQRankSum=1.317;QD=7.88;ReadPosRankSum=-1.266;VQSLOD=4.7858;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,29:81:99:668,0,1275 8 22442661 22442661 A G exonic PDLIM2 synonymous SNV PDLIM2:NM_176871:exon4:c.A447G:p.A149A,PDLIM2:NM_198042:exon4:c.A447G:p.A149A,PDLIM2:NM_021630:exon5:c.A1197G:p.A399A 0.58 0.59 0.65 0.47 0.61 0.62 0.6013 0.6085 0.6161 0.4860 0.5971 0.6027 0.5776 0.6437 0.6 0.6 0.6 0.51 0.54 rs2294047 COSM3763255;COSM3763256 2(haematopoietic_and_lymphoid_tissue);2(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.090 P . . . . . . . . . . . . . . . . . . . . -0.171 0.078 1.259 0.497 0.042 0.022 0.063 N n 0.030 1.893 1.000 0.747 0.615 0.372 0 -11.1 0.001 -3.958 0.004 -2.974 0.001 0.000 0.063 0.000 0.016 1.069 0.015 . ENSG00000147439.7|ENSG00000147439.7 Lung|Thyroid 0.5988 0.6010 0.6196 0.5278 0.4874 0.5981 0.6048 0.5872 0.6411 0.5890 0.6047 0.6340 0.5833 0.4800 0.5892 0.5903 0.5697 het 1598.93 122 8 22442661 . A G 1598.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.745;DP=122;Dels=0.00;FS=1.836;HRun=1;HaplotypeScore=2.5873;MQ=59.29;MQ0=0;MQRankSum=1.869;QD=13.11;ReadPosRankSum=-0.786;VQSLOD=6.1978;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,63:122:99:1629,0,1620 8 22526559 22526559 G A exonic BIN3 synonymous SNV BIN3:NM_018688:exon1:c.C6T:p.S2S 0.099 0.011 0.16 0.0069 0.26 0.11 0.2961 0.0744 0.3368 0.0248 0.4527 0.3728 0.2874 0.1736 0.19 0.056 0.25 0.13 . rs11550509 COSM3763261 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2005 0.0401 0.1850 0.2703 0.0106 0.2719 0.2537 0.2087 0.1416 0.1799 0.0468 0.1921 0.2285 0.0105 0.2685 0.2515 0.2061 het 114.73 12 8 22526559 . G A 114.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.000;DP=12;Dels=0.00;FS=2.533;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.977;QD=9.56;ReadPosRankSum=-1.461;VQSLOD=4.5822;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,5:12:99:145,0,186 8 22584718 22584718 T C exonic PEBP4 nonsynonymous SNV PEBP4:NM_144962:exon5:c.A373G:p.K125E 0.5 0.75 0.57 0.28 0.47 0.37 0.4714 0.7026 0.5214 0.2507 0.4626 0.4735 0.4525 0.4082 0.55 0.7 0.48 0.52 0.39 rs1129474 COSM150467 1(stomach);1(haematopoietic_and_lymphoid_tissue);4(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.507 0.076 T 0.065 0.220 B 0.022 0.184 B 0.418 0.046 N 1 0.090 P 0.86 0.214 L 1.02 0.407 T -1.8 0.424 N 0.062 0.047 -0.928 0.444 T 0.000 0.000 T . . . 0.860 0.176 9.832 0.969 0.308 0.043 0.097 N c -0.747 -0.733 0.788 0.239 0.554 0.283 0 3.31 0.369 0.188 0.167 0.913 0.425 0.014 0.188 0.009 0.108 6.139 0.193 . . . 0.4680 0.7027 0.5185 0.5528 0.2509 0.4522 0.4669 0.4778 0.4051 0.5172 0.7000 0.4690 0.5638 0.2348 0.4384 0.4664 0.4416 het 410.68 41 8 22584718 . T C 410.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.210;DP=41;Dels=0.00;FS=6.658;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.384;QD=10.02;ReadPosRankSum=0.887;VQSLOD=5.0538;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:441,0,697 8 22785159 22785159 G A exonic PEBP4 synonymous SNV PEBP4:NM_144962:exon2:c.C69T:p.D23D 0.17 0.085 0.15 0.2 0.19 0.25 0.1922 0.0972 0.1555 0.1816 0.1985 0.2013 0.2167 0.2394 0.16 0.095 0.19 0.087 0.22 rs2175192 COSM3765399 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1930 0.0989 0.1571 0.2786 0.1897 0.2002 0.1948 0.2005 0.2401 0.1642 0.0991 0.1454 0.3046 0.2046 0.1992 0.1868 0.1813 hom 5892.19 191 8 22785159 . G A 5892.19 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1399;MQ=59.68;MQ0=0;QD=30.85;VQSLOD=6.9076;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5891,469,0 8 22864622 22864622 T C exonic RHOBTB2 synonymous SNV RHOBTB2:NM_001160037:exon5:c.T885C:p.S295S,RHOBTB2:NM_015178:exon5:c.T864C:p.S288S,RHOBTB2:NM_001160036:exon7:c.T930C:p.S310S 0.88 0.86 0.89 0.95 0.85 0.86 0.8563 0.8748 0.8827 0.9574 0.8178 0.8390 0.8513 0.8589 0.85 0.87 0.84 0.9 0.86 rs2466178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8573 0.8733 0.8763 0.9137 0.9562 0.8248 0.8342 0.8444 0.8624 0.8578 0.8792 0.8732 0.8974 0.9530 0.8323 0.8411 0.8316 hom 7570.73 243 8 22864622 . T C 7570.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=243;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.2260;MQ=59.53;MQ0=0;MQRankSum=-0.463;QD=31.16;ReadPosRankSum=0.178;VQSLOD=4.6152;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,242:243:99:7570,581,0 8 22886020 22886020 A G exonic TNFRSF10B nonsynonymous SNV TNFRSF10B:NM_003842:exon5:c.T572C:p.V191A 0.86 0.73 0.88 0.99 0.9 0.87 0.8899 0.7512 0.8889 0.9805 0.9315 0.9016 0.9064 0.8657 0.85 0.76 0.9 0.79 0.89 rs13265018 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P -0.49 0.026 N -1.64 0.825 D 1.09 0.013 N 0.006 0.000 -1.002 0.293 T 0.000 0.000 T . . . -1.921 0.009 0.001 0.205 0.007 0.001 0.008 N c -1.841 -1.826 0.992 0.325 0.707 0.730 0 0.015 0.134 0.078 0.145 -0.855 0.029 0.000 0.063 0.001 0.043 4.977 0.134 . . . 0.8924 0.7473 0.8857 0.9104 0.9794 0.9342 0.8984 0.8840 0.8669 0.8634 0.7474 0.8663 0.9067 0.9790 0.9344 0.8992 0.8867 hom 7062.56 204 8 22886020 . A G 7062.56 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.5731;MQ=59.18;MQ0=0;QD=34.62;VQSLOD=8.9990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:7062,557,0 8 22974450 22974450 T C exonic TNFRSF10C nonsynonymous SNV TNFRSF10C:NM_003841:exon5:c.T686C:p.I229T 0.77 0.6 0.87 0.81 0.8 0.86 0.0586 0.0131 0.1753 0.1628 0.0030 0.0559 0.0667 0.0943 0.76 0.64 0.81 0.033 0.77 rs9644063 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.910 0.086 U 1.000 0.186 P 0 0.065 N 0.2 0.601 T -0.01 0.072 N 0.005 0.018 -0.967 0.378 T 0.000 0.000 T . . . -1.111 0.028 0.010 0.247 0.011 0.000 0.004 N c -1.862 -1.895 0.774 0.237 0.707 0.730 0 0.177 0.143 -1.347 0.027 -0.632 0.042 0.000 0.063 0.000 0.016 4.563 0.115 . ENSG00000253616.1|ENSG00000173535.9|ENSG00000253616.1|ENSG00000120889.8 Adrenal_Gland|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Whole_Blood 0.2625 0.0639 0.4339 0.0477 0.4915 0.3045 0.2357 0.2255 0.2454 0.3457 0.1790 0.5455 0.5714 0.4943 0.3145 0.4225 0.4535 hom 5205.73 164 8 22974450 . T C 5205.73 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.35;MQ0=7;QD=31.74;VQSLOD=8.1217;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5205,415,0 8 23001988 23001988 A G exonic TNFRSF10D nonsynonymous SNV TNFRSF10D:NM_003840:exon7:c.T929C:p.L310S 0.7 0.55 0.71 0.91 0.6 0.79 0.6520 0.5502 0.7691 0.9014 0.5921 0.6018 0.6523 0.7304 0.59 0.56 0.6 0.69 0.41 rs1133782 COSM4162923 1(thyroid) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.592 0.056 N 1 0.090 P . . . -1.26 0.792 T 2.78 0.002 N 0.026 0.008 -0.962 0.388 T 0.000 0.000 T . . . -1.465 0.018 0.003 0.140 0.003 0.003 0.017 N c -1.196 -1.408 0.990 0.320 0.707 0.730 0 -0.341 0.120 -3.448 0.005 -2.266 0.004 0.000 0.063 0.000 0.016 2.805 0.051 . ENSG00000173530.5|ENSG00000173530.5 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.6578 0.5582 0.7599 0.5573 0.9010 0.6026 0.6036 0.6581 0.7276 0.6139 0.5564 0.7655 0.5695 0.9017 0.6135 0.6073 0.6350 hom 3460.99 122 8 23001988 . A G 3460.99 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4258;MQ=59.62;MQ0=0;QD=28.37;VQSLOD=8.2809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3460,301,0 8 23004486 23004486 G A exonic TNFRSF10D nonsynonymous SNV TNFRSF10D:NM_003840:exon4:c.C470T:p.T157M 0.0002 . 0.0014 . . . 0.0015 9.61e-05 0.0016 0 0.0012 0.0023 0.0011 0 0.0009 0.0002 0.0013 . . rs149074636 COSM4734861 1(prostate);1(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.828 0.441 P 0.058 0.250 B 0.861 0.071 U 1 0.090 N 0.55 0.145 N -2.81 0.911 D -0.62 0.183 N 0.163 0.196 -0.544 0.670 T 0.422 0.767 T 0.074 0.720 D 1.107 0.200 11.25 0.814 0.132 0.010 0.038 N c -1.263 -1.468 1.000 0.454 0.672 0.522 0 -3.87 0.039 -1.635 0.021 -0.636 0.042 0.000 0.063 0.000 0.016 10.621 0.445 TNFR/NGFR cysteine-rich region . . 0.0014 0.0001 0.0015 0.0001 0 0.0008 0.0023 0.0018 0 0.0011 0.0006 0.0024 0 0 0.0009 0.0015 0 het 1783.54 131 8 23004486 . G A 1783.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.374;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9962;MQ=59.20;MQ0=0;MQRankSum=0.014;QD=13.61;ReadPosRankSum=-0.349;VQSLOD=4.8313;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,67:131:99:1814,0,1591 8 23049292 23049292 C T exonic TNFRSF10A nonsynonymous SNV TNFRSF10A:NM_003844:exon10:c.G1322A:p.R441K 0.91 0.88 0.9 0.98 0.86 0.95 0.8782 0.8638 0.9464 0.9807 0.7985 0.8452 0.9020 0.9499 0.85 0.86 0.85 0.91 0.87 rs2230229 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.423 0.128 N 1 0.090 P -1.345 0.007 N -2.0 0.854 D 1.36 0.009 N 0.023 0.007 -0.992 0.322 T 0.000 0.000 T . . . -1.070 0.029 0.011 0.557 0.053 0.001 0.006 N c -1.829 -1.798 0.902 0.261 0.707 0.730 0 -2.61 0.058 -0.095 0.110 -0.493 0.052 0.000 0.063 0.001 0.043 6.433 0.209 Death domain|Death-like domain . . 0.8799 0.8619 0.9371 0.8922 0.9813 0.8001 0.8446 0.8825 0.9510 0.8540 0.8633 0.9342 0.8742 0.9808 0.8049 0.8418 0.8480 het 1428.84 102 8 23049292 . C T 1428.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.081;DP=102;Dels=0.00;FS=8.789;HRun=2;HaplotypeScore=4.6457;MQ=59.63;MQ0=0;MQRankSum=-0.047;QD=14.01;ReadPosRankSum=0.450;VQSLOD=4.7559;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,55:102:99:1459,0,1390 8 23058220 23058220 T G exonic TNFRSF10A nonsynonymous SNV TNFRSF10A:NM_003844:exon5:c.A683C:p.E228A 0.082 0.0053 0.14 0.012 0.22 0.075 0.1491 0.0348 0.0992 0.0141 0.2194 0.2010 0.1619 0.0884 0.15 0.047 0.2 0.087 0.19 rs20576 COSM3735900 2(skin);1(thyroid) . . . . . . . . . . . 0.037 0.457 D 0.308 0.310 B 0.193 0.348 B 0.796 0.067 N 1 0.090 P 1.87 0.498 L -2.89 0.916 D -2.33 0.556 N 0.064 0.188 -1.001 0.297 T 0.001 0.004 T . . . -0.157 0.080 1.344 0.928 0.217 0.121 0.169 N c -1.141 -1.238 0.931 0.270 0.707 0.730 0 0.625 0.168 1.028 0.295 -0.318 0.077 0.021 0.196 0.000 0.016 5.233 0.147 TNFR/NGFR cysteine-rich region ENSG00000104689.5|ENSG00000104689.5|ENSG00000253930.1|ENSG00000246582.2|ENSG00000104689.5 Artery_Aorta|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid 0.1519 0.0327 0.1051 0.1972 0.0155 0.2151 0.2028 0.1789 0.0888 0.1401 0.0377 0.1175 0.1954 0.0180 0.2169 0.1937 0.1636 het 2411.98 187 8 23058220 . T G 2411.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.561;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9278;MQ=58.28;MQ0=0;MQRankSum=1.047;QD=12.90;ReadPosRankSum=0.208;VQSLOD=5.1848;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,102:187:99:2442,0,2054 8 23059324 23059324 C G exonic TNFRSF10A nonsynonymous SNV TNFRSF10A:NM_003844:exon4:c.G626C:p.R209T 0.58 0.28 0.61 0.97 0.46 0.69 0.5279 0.3133 0.6690 0.9786 0.4095 0.4582 0.5022 0.6568 0.41 0.32 0.46 0.49 0.46 rs20575 COSM3763263 2(pancreas);1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.549 0.115 N 1 0.090 P -1.105 0.010 N -2.7 0.905 D 4.31 0.000 N 0.029 0.024 -0.966 0.381 T 0.000 0.000 T . . . -1.605 0.015 0.002 0.098 0.001 0.000 0.002 N c -1.841 -1.724 0.952 0.280 0.706 0.609 0 0.222 0.145 -0.414 0.071 -1.000 0.022 0.000 0.063 0.000 0.016 4.476 0.111 TNFR/NGFR cysteine-rich region . . 0.5359 0.3083 0.6603 0.5082 0.9773 0.4105 0.4583 0.5084 0.6516 0.4435 0.3146 0.6432 0.4636 0.9735 0.4050 0.4544 0.4867 het 1298.28 102 8 23059324 . C G 1298.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.331;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8035;MQ=59.51;MQ0=0;MQRankSum=-0.904;QD=12.73;ReadPosRankSum=-0.583;VQSLOD=5.5869;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,49:102:99:1328,0,1365 8 23060256 23060256 T C exonic TNFRSF10A nonsynonymous SNV TNFRSF10A:NM_003844:exon3:c.A422G:p.H141R 0.57 0.25 0.62 0.97 0.46 0.69 0.5254 0.2825 0.6692 0.9789 0.4091 0.4588 0.5033 0.6572 0.4 0.28 0.46 0.47 0.45 rs17620 COSM3763264 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.419 0.098 T 0.824 0.439 P 0.177 0.340 B 0.921 0.075 U 1 0.090 P 1.15 0.294 L 0.99 0.418 T -1.66 0.397 N 0.018 0.003 -0.910 0.468 T 0.000 0.000 T . . . -3.114 0.001 0.001 0.238 0.010 0.006 0.026 N c -1.665 -1.910 1.000 0.747 0.706 0.609 0 -6.96 0.015 -1.990 0.016 -1.964 0.005 0.000 0.063 0.000 0.016 2.080 0.034 . . . 0.5348 0.2757 0.6605 0.5087 0.9774 0.4099 0.4600 0.5089 0.6532 0.4325 0.2767 0.6435 0.4636 0.9735 0.4044 0.4554 0.4847 het 2085.17 186 8 23060256 . T C 2085.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.283;DP=186;DS;Dels=0.00;FS=5.088;HRun=0;HaplotypeScore=3.8444;MQ=59.44;MQ0=0;MQRankSum=1.181;QD=11.21;ReadPosRankSum=0.692;VQSLOD=5.2150;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:101,85:186:99:2115,0,2763 8 23167353 23167353 T G exonic LOXL2 nonsynonymous SNV LOXL2:NM_002318:exon10:c.A1708C:p.M570L 0.78 0.67 0.82 0.74 0.8 0.9 0.7877 0.6880 0.8626 0.7429 0.7832 0.7737 0.8038 0.8796 0.74 0.69 0.77 0.77 0.67 rs1063582 . . . . . . . . . . . . . 0.703 0.041 T 0.0 0.026 B 0.005 0.133 B 0.000 0.559 N 0.479 0.319 P 0.87 0.215 L 1.65 0.276 T -0.62 0.183 N 0.163 0.196 -0.972 0.368 T 0.000 0.000 T . . . 1.136 0.203 11.41 0.784 0.119 0.815 0.406 D c -0.797 -0.599 0.989 0.315 0.672 0.522 0 -0.169 0.126 0.015 0.131 0.086 0.193 0.959 0.333 0.984 0.507 6.464 0.210 . ENSG00000134013.11 Esophagus_Muscularis 0.7890 0.6788 0.8578 0.7872 0.7415 0.7871 0.7696 0.7915 0.8753 0.7565 0.6830 0.8568 0.8212 0.7447 0.7912 0.7848 0.7694 het 622.11 67 8 23167353 . T G 622.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.991;DP=67;Dels=0.00;FS=0.950;HRun=1;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=0.594;QD=9.29;ReadPosRankSum=-1.208;VQSLOD=6.1655;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,27:67:99:652,0,999 8 23186007 23186007 T C exonic LOXL2 synonymous SNV LOXL2:NM_002318:exon6:c.A1038G:p.E346E 0.57 0.45 0.53 0.51 0.75 0.62 0.6672 0.4943 0.4850 0.4820 0.7156 0.7447 0.6861 0.6665 0.66 0.5 0.74 0.62 0.75 rs1051146 COSM3982474 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6631 0.4882 0.4931 0.7915 0.4890 0.7205 0.7405 0.6843 0.6659 0.6506 0.4892 0.5323 0.8067 0.5100 0.7229 0.7446 0.6773 het 1757.15 128 8 23186007 . T C 1757.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.957;DP=128;Dels=0.00;FS=4.380;HRun=0;HaplotypeScore=2.7783;MQ=59.35;MQ0=0;MQRankSum=1.179;QD=13.73;ReadPosRankSum=-0.957;VQSLOD=5.8166;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,63:128:99:1787,0,1694 8 23190941 23190941 T C exonic LOXL2 synonymous SNV LOXL2:NM_002318:exon5:c.A939G:p.S313S 0.41 0.32 0.39 0.47 0.55 0.34 0.4999 0.3438 0.3772 0.4677 0.5882 0.5700 0.4989 0.3829 0.49 0.34 0.57 0.47 0.58 rs1010156 COSM3982475 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4982 0.3382 0.3710 0.6156 0.4698 0.5865 0.5666 0.5113 0.3805 0.5049 0.3469 0.3950 0.5993 0.4653 0.5836 0.5845 0.5428 hom 4613.47 158 8 23190941 . T C 4613.47 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.266;DP=158;Dels=0.00;FS=4.714;HRun=0;HaplotypeScore=8.2120;MQ=58.75;MQ0=0;MQRankSum=1.599;QD=29.20;ReadPosRankSum=1.310;VQSLOD=3.1049;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,156:158:99:4582,371,0 8 23423758 23423758 G A exonic SLC25A37 synonymous SNV SLC25A37:NM_016612:exon2:c.G348A:p.P116P,SLC25A37:NM_001317813:exon3:c.G132A:p.P44P,SLC25A37:NM_001317814:exon3:c.G132A:p.P44P 0.41 0.1 0.53 0.37 0.66 0.5 0.5688 0.1853 0.5315 0.3289 0.5471 0.6693 0.6091 0.5475 0.54 0.23 0.68 0.3 . rs10992 COSM3982477 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5680 0.1781 0.5213 0.6752 0.3237 0.5465 0.6699 0.5959 0.5442 0.4919 0.1869 0.5408 0.6192 0.3399 0.5370 0.6664 0.55 het 852.81 75 8 23423758 . G A 852.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.540;DP=75;Dels=0.00;FS=7.736;HRun=0;HaplotypeScore=4.6508;MQ=58.41;MQ0=0;MQRankSum=-0.562;QD=11.37;ReadPosRankSum=-0.766;VQSLOD=4.1559;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,32:75:99:883,0,1131 8 24211331 24211331 G A exonic ADAM28 nonsynonymous SNV ADAM28:NM_014265:exon22:c.G2293A:p.V765M 0.97 0.92 0.99 1. 1. 0.94 0.9866 0.9410 0.9932 0.9990 1 0.9967 0.9934 0.9577 0.98 0.94 1. 0.99 0.98 rs7814768 . . . . . . . . . . . . . 0.702 0.041 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -0.345 0.033 N 4.8 0.016 T -0.05 0.078 N 0.026 0.008 -1.017 0.248 T 0.000 0.000 T . . . -1.451 0.018 0.003 0.364 0.023 0.000 0.003 N c -1.501 -1.485 0.000 0.058 0.554 0.246 0 -1.87 0.073 0.085 0.146 0.128 0.215 0.000 0.063 0.000 0.016 10.575 0.442 . . . 0.9875 0.9391 0.9914 0.9913 0.9992 0.9999 0.9966 0.9875 0.9576 0.9805 0.9378 0.9964 0.9901 0.9994 0.9994 0.9975 0.9867 hom 5615.89 197 8 24211331 . G A 5615.89 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.98;MQ0=0;QD=28.51;VQSLOD=8.0647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:5615,427,0 8 24256470 24256470 C T exonic ADAMDEC1 synonymous SNV ADAMDEC1:NM_001145272:exon8:c.C609T:p.S203S,ADAMDEC1:NM_014479:exon9:c.C846T:p.S282S,ADAMDEC1:NM_001145271:exon10:c.C609T:p.S203S 0.29 0.097 0.45 0.2 0.42 0.4 0.3924 0.1408 0.4699 0.1890 0.4237 0.4321 0.4064 0.4283 0.34 0.15 0.44 0.24 0.48 rs2291577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4015 0.1338 0.4672 0.5045 0.1917 0.4250 0.4295 0.4150 0.4267 0.3376 0.1490 0.4582 0.5467 0.1766 0.4250 0.4280 0.4201 het 1056.02 75 8 24256470 . C T 1056.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.283;DP=75;Dels=0.00;FS=12.007;HRun=0;HaplotypeScore=0.9993;MQ=59.07;MQ0=0;MQRankSum=-0.442;QD=14.08;ReadPosRankSum=-0.559;VQSLOD=4.2308;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,41:75:99:1086,0,806 8 24261526 24261526 A G exonic ADAMDEC1 nonsynonymous SNV ADAMDEC1:NM_001145272:exon12:c.A1094G:p.N365S,ADAMDEC1:NM_014479:exon13:c.A1331G:p.N444S,ADAMDEC1:NM_001145271:exon14:c.A1094G:p.N365S 0.29 0.097 0.46 0.2 0.43 0.4 0.3941 0.1415 0.4710 0.1893 0.4246 0.4341 0.4060 0.4308 0.34 0.15 0.44 0.23 0.44 rs3765124 . . . . . . . . . . . . . 0.251 0.170 T 0.929 0.497 P 0.458 0.445 P 0.146 0.181 N 1 0.090 P 1.145 0.292 L 2.76 0.115 T -3.37 0.666 D 0.018 0.004 -0.902 0.478 T 0.000 0.000 T . . . -0.605 0.050 0.121 0.609 0.064 0.031 0.080 N c -0.717 -0.867 0.000 0.029 0.554 0.246 0 0.414 0.156 0.437 0.211 -0.680 0.039 0.000 0.063 0.006 0.095 8.043 0.295 Disintegrin domain;Metallopeptidase\x2c catalytic domain|Peptidase M12B\x2c ADAM/reprolysin . . 0.4032 0.1342 0.4684 0.5058 0.1916 0.4257 0.4316 0.4170 0.4297 0.3393 0.1501 0.4593 0.5464 0.1766 0.4257 0.4306 0.4204 het 959.53 85 8 24261526 . A G 959.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.221;DP=85;Dels=0.00;FS=13.887;HRun=0;HaplotypeScore=1.8110;MQ=58.96;MQ0=0;MQRankSum=-0.066;QD=11.29;ReadPosRankSum=0.022;VQSLOD=4.3035;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:990,0,1271 8 24774683 24774683 C A exonic NEFM nonsynonymous SNV NEFM:NM_001105541:exon3:c.C187A:p.P63T,NEFM:NM_005382:exon3:c.C1315A:p.P439T 0.9 0.73 0.94 1. 0.93 0.99 0.9368 0.7602 0.9491 1 0.9753 0.9369 0.9394 0.9901 0.88 0.76 0.94 0.87 0.93 rs196864 . . . . . . . . . . . . . 1.0 0.010 T 0.003 0.102 B 0.004 0.093 B 0.005 0.332 N 1 0.090 P -2.125 0.001 N -1.63 0.934 D 2.32 0.008 N 0.018 0.024 -0.912 0.466 T 0.000 0.000 T . . . -1.558 0.016 0.002 0.069 0.000 0.306 0.239 N c -1.575 -1.308 0.455 0.206 0.706 0.609 0 2.4 0.284 -0.096 0.109 -0.182 0.104 0.223 0.243 0.981 0.494 1.327 0.020 Intermediate filament head\x2c DNA-binding domain . . 0.9406 0.7568 0.9465 0.9333 0.9999 0.9749 0.9357 0.9275 0.9900 0.8964 0.7720 0.9391 0.9338 1 0.9748 0.9336 0.9357 hom 2915.80 95 8 24774683 . C A 2915.80 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9983;MQ=58.72;MQ0=0;QD=30.69;VQSLOD=9.3157;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2949,235,0 8 25159885 25159885 G A exonic DOCK5 synonymous SNV DOCK5:NM_024940:exon10:c.G891A:p.V297V 0.28 0.051 0.36 0.24 0.5 0.33 0.4083 0.1128 0.3648 0.2452 0.4947 0.4768 0.4430 0.3749 0.35 0.11 0.47 0.22 . rs907157 COSM3982481 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3894 0.0949 0.3360 0.4538 0.2205 0.4797 0.4585 0.4070 0.3495 0.3457 0.0970 0.3998 0.4567 0.2240 0.4837 0.4604 0.4369 hom 936.15 31 8 25159885 . G A 936.15 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.040;DP=31;Dels=0.00;FS=2.863;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.648;QD=30.20;ReadPosRankSum=1.648;VQSLOD=4.1665;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,29:31:42.54:969,43,0 8 25182969 25182969 C T exonic DOCK5 synonymous SNV DOCK5:NM_024940:exon18:c.C1809T:p.S603S 0.67 0.5 0.66 0.77 0.83 0.64 0.7151 0.5314 0.5548 0.7436 0.7519 0.7834 0.7874 0.6337 0.71 0.54 0.79 0.61 . rs2666172 COSM5619010 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7144 0.5298 0.5692 0.7766 0.7526 0.7539 0.7844 0.7538 0.6341 0.6923 0.5399 0.6265 0.7318 0.7420 0.7453 0.7628 0.7413 hom 5304.62 162 8 25182969 . C T 5304.62 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8934;MQ=58.77;MQ0=0;QD=32.74;VQSLOD=9.2550;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5304,421,0 8 25203022 25203022 A G exonic DOCK5 synonymous SNV DOCK5:NM_024940:exon26:c.A2649G:p.T883T 0.97 0.91 0.99 1. 1. 1. 0.9921 0.9140 0.9966 1 1 0.9998 0.9934 0.9999 0.97 0.92 1. 0.83 . rs2468902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9937 0.9108 0.9963 1 1 1 0.9998 0.9962 0.9997 0.9746 0.9106 0.9988 1 1 1 0.9999 0.9959 hom 7888.46 250 8 25203022 . A G 7888.46 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=59.22;MQ0=0;QD=31.55;VQSLOD=9.1771;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7887,665,0 8 25222165 25222165 A G exonic DOCK5 nonsynonymous SNV DOCK5:NM_024940:exon30:c.A3068G:p.Q1023R 0.25 0.071 0.3 0.36 0.37 0.2 0.3719 0.1368 0.3859 0.4223 0.4827 0.4232 0.3816 0.2413 0.26 0.11 0.34 0.26 . rs2271111 COSM150472 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.658 0.047 T 0.001 0.067 B 0.005 0.104 B 0.000 0.629 D 0.004 0.432 P 1.555 0.395 L 1.88 0.239 T -0.97 0.258 N 0.103 0.193 -0.949 0.413 T 0.000 0.000 T . . . 1.923 0.292 15.73 0.967 0.302 0.963 0.682 D c -0.173 0.023 0.890 0.258 0.693 0.558 0 4.34 0.511 4.310 0.587 1.199 0.960 1.000 0.715 1.000 0.888 7.572 0.269 . . . 0.3063 0.1005 0.2760 0.3318 0.3641 0.4220 0.3360 0.3173 0.2063 0.2808 0.1028 0.2818 0.2748 0.3672 0.4157 0.3406 0.3292 hom 933.07 34 8 25222165 . A G 933.07 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;QD=27.44;VQSLOD=7.3790;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:75.23:966,75,0 8 25230168 25230168 C T exonic DOCK5 synonymous SNV DOCK5:NM_024940:exon35:c.C3618T:p.D1206D 0.44 0.38 0.46 0.4 0.51 0.47 0.4752 0.3856 0.3896 0.4148 0.5828 0.5025 0.4868 0.4688 0.45 0.38 0.49 0.42 . rs2271108 COSM150473 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4754 0.3789 0.3929 0.5156 0.4187 0.5869 0.4954 0.4936 0.4729 0.4657 0.3801 0.4151 0.4570 0.4238 0.5799 0.4942 0.5 hom 2220.10 69 8 25230168 . C T 2220.10 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9761;MQ=59.64;MQ0=0;QD=32.18;VQSLOD=9.4140;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2253,181,0 8 25234858 25234858 A G exonic DOCK5 nonsynonymous SNV DOCK5:NM_024940:exon38:c.A3854G:p.K1285R 1. 0.99 1. 1. 1. 1. 0.9987 0.9859 0.9994 1 1 1.0000 0.9989 1 0.99 0.98 1. 0.99 . rs2659585 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.473 N 1.000 0.195 P -1.235 0.008 N 4.7 0.017 T 0.33 0.039 N 0.019 0.004 -0.966 0.380 T 0.000 0.000 T . . . 1.645 0.259 14.10 0.213 0.008 0.318 0.242 N c -0.670 -0.345 1.000 0.747 0.615 0.372 0 5.47 0.803 5.679 0.676 0.076 0.183 1.000 0.715 0.997 0.653 14.507 0.672 DHR-2 domain|Dedicator of cytokinesis\x2c C-terminal . . 0.9989 0.9837 0.9995 1 1 1 1.0000 0.9996 1 0.9955 0.9843 1 1 1 1 0.9999 0.9980 hom 3354.25 107 8 25234858 . A G 3354.25 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=59.57;MQ0=0;QD=31.35;VQSLOD=8.2912;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3354,253,0 8 25287397 25287397 T C exonic KCTD9 synonymous SNV KCTD9:NM_017634:exon12:c.A1146G:p.L382L 0.16 0.062 0.2 0.24 0.22 0.13 0.1990 0.0851 0.1989 0.2705 0.2233 0.2233 0.2214 0.1242 0.17 0.09 0.21 0.11 0.24 rs1812594 COSM3763275 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2017 0.0811 0.1997 0.2074 0.2803 0.2262 0.2208 0.2090 0.1295 0.1925 0.0838 0.2231 0.2285 0.2862 0.2410 0.2294 0.2316 hom 5561.82 178 8 25287397 . T C 5561.82 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6971;MQ=58.46;MQ0=0;QD=31.25;VQSLOD=7.5065;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5561,415,0 8 25323777 25323777 T C exonic CDCA2 synonymous SNV CDCA2:NM_001317906:exon4:c.T429C:p.N143N,CDCA2:NM_001317907:exon5:c.T474C:p.N158N,CDCA2:NM_152562:exon5:c.T474C:p.N158N 0.96 0.84 1. 1. 1. 0.99 0.9860 0.8667 0.9942 1 1 0.9993 0.9901 0.9883 0.95 0.87 1. 0.9 1. rs10108752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9885 0.8615 0.9936 0.9999 1 1 0.9992 0.9937 0.9882 0.9600 0.8613 0.9905 1 1 1 0.9991 0.9939 hom 2332.14 80 8 25323777 . T C 2332.14 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4414;MQ=57.99;MQ0=0;QD=29.15;VQSLOD=6.8761;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:80:99:2365,193,0 8 25364834 25364834 A T exonic CDCA2 nonsynonymous SNV CDCA2:NM_001317906:exon14:c.A2607T:p.R869S,CDCA2:NM_152562:exon15:c.A2652T:p.R884S 0.19 0.17 0.19 0.24 0.21 0.16 0.2049 0.1735 0.1989 0.2600 0.2185 0.2147 0.2279 0.1533 0.19 0.17 0.2 0.14 0.2 rs3829009 COSM3763277 1(large_intestine) . . . . . . . . . . . 0.644 0.050 T 0.015 0.158 B 0.014 0.158 B 0.180 0.032 N 1 0.090 P 0.69 0.170 N 1.57 0.293 T 0.28 0.042 N 0.044 0.065 -1.025 0.222 T 0.000 0.000 T . . . -0.633 0.048 0.104 0.622 0.067 0.035 0.085 N c -1.141 -1.122 1.000 0.473 0.722 0.854 0 0.538 0.163 -0.086 0.111 1.199 0.960 0.000 0.063 0.827 0.345 8.425 0.317 . ENSG00000104756.11 Muscle_Skeletal 0.2051 0.1703 0.1993 0.2052 0.2696 0.2204 0.2111 0.2074 0.1589 0.2137 0.1725 0.2172 0.2185 0.2716 0.2373 0.2241 0.2373 hom 3964.91 131 8 25364834 . A T 3964.91 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=4.6249;MQ=58.46;MQ0=0;QD=30.04;VQSLOD=7.7539;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:3964,328,0 8 25364960 25364960 A G exonic CDCA2 synonymous SNV CDCA2:NM_001317906:exon14:c.A2733G:p.T911T,CDCA2:NM_152562:exon15:c.A2778G:p.T926T 0.19 0.17 0.19 0.24 0.21 0.16 0.2046 0.1721 0.1988 0.2594 0.2183 0.2146 0.2296 0.1532 0.19 0.17 0.2 0.14 0.24 rs6990278 COSM3763278 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2050 0.1702 0.1991 0.2046 0.2694 0.2205 0.2111 0.2076 0.1586 0.2134 0.1718 0.2172 0.2185 0.2717 0.2373 0.2238 0.2373 hom 7355.59 241 8 25364960 . A G 7355.59 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5016;MQ=58.39;MQ0=0;QD=30.52;VQSLOD=6.9430;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:7354,605,0 8 26481771 26481771 T C exonic DPYSL2 synonymous SNV DPYSL2:NM_001197293:exon4:c.T741C:p.S247S,DPYSL2:NM_001244604:exon4:c.T318C:p.S106S,DPYSL2:NM_001386:exon4:c.T426C:p.S142S 0.94 0.88 0.93 0.93 0.99 0.97 0.9704 0.8996 0.9249 0.9058 0.9991 0.9924 0.9835 0.9800 0.96 0.9 0.99 0.91 1. rs327222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9699 0.8994 0.9256 0.9914 0.9077 0.9983 0.9918 0.9757 0.9801 0.9607 0.9036 0.9450 0.9901 0.9049 0.9989 0.9897 0.9847 hom 6108.15 201 8 26481771 . T C 6108.15 Mask AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7902;MQ=59.81;MQ0=0;QD=30.39;VQSLOD=8.7569;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,201:201:99:6107,496,0 8 26510792 26510792 T C exonic DPYSL2 synonymous SNV DPYSL2:NM_001197293:exon13:c.T1821C:p.P607P,DPYSL2:NM_001244604:exon13:c.T1398C:p.P466P,DPYSL2:NM_001386:exon13:c.T1506C:p.P502P 0.59 0.78 0.46 0.4 0.67 0.54 0.6278 0.7765 0.3625 0.4056 0.7578 0.6851 0.6256 0.5522 0.71 0.77 0.68 0.61 0.49 rs708621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6168 0.7751 0.3735 0.5984 0.4143 0.7602 0.6906 0.6146 0.5517 0.7119 0.7759 0.4366 0.6533 0.4571 0.7640 0.7078 0.6924 hom 8152.94 250 8 26510792 . T C 8152.94 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.690;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4094;MQ=59.41;MQ0=0;MQRankSum=1.676;QD=32.61;ReadPosRankSum=0.661;VQSLOD=5.8134;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8151,677,0 8 26628028 26628028 A G exonic ADRA1A nonsynonymous SNV ADRA1A:NM_033302:exon2:c.T1039C:p.C347R,ADRA1A:NM_033303:exon2:c.T1039C:p.C347R,ADRA1A:NM_033304:exon2:c.T1039C:p.C347R,ADRA1A:NM_000680:exon3:c.T1039C:p.C347R 0.65 0.78 0.49 0.89 0.43 0.54 0.5190 0.7569 0.4884 0.9084 0.3639 0.4463 0.5 0.5438 0.55 0.74 0.45 0.64 0.37 rs1048101 . . . . . . . . . . . . . 0.907 0.026 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.987 0.520 P -1.7 0.004 N 1.4 0.336 T 2.74 0.002 N 0.044 0.029 -0.978 0.355 T 0.000 0.000 T . . . 1.370 0.228 12.63 0.799 0.125 0.028 0.075 N c -0.723 -0.427 0.010 0.120 0.487 0.133 0 5.83 0.930 1.543 0.355 0.138 0.222 0.060 0.216 0.992 0.562 14.870 0.700 . . . 0.5137 0.7658 0.5017 0.4974 0.9126 0.3649 0.4450 0.4885 0.5442 0.5551 0.7502 0.4881 0.4901 0.9190 0.3797 0.4531 0.4826 het 2904.57 250 8 26628028 . A G 2904.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.752;DP=250;DS;Dels=0.00;FS=1.536;HRun=1;HaplotypeScore=5.4818;MQ=58.89;MQ0=0;MQRankSum=-1.579;QD=11.62;ReadPosRankSum=0.295;VQSLOD=4.5475;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:2935,0,3724 8 27255128 27255128 T C exonic PTK2B synonymous SNV PTK2B:NM_173175:exon2:c.T27C:p.S9S,PTK2B:NM_173176:exon2:c.T27C:p.S9S,PTK2B:NM_004103:exon3:c.T27C:p.S9S,PTK2B:NM_173174:exon7:c.T27C:p.S9S 0.32 0.21 0.38 0.27 0.43 0.35 0.3997 0.2222 0.4080 0.2584 0.4399 0.4515 0.4438 0.3522 0.37 0.23 0.45 0.33 0.44 rs1045510 COSM3982487;COSM3982486 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4032 0.2199 0.3957 0.5550 0.2516 0.4401 0.4442 0.4473 0.3558 0.3750 0.2269 0.4111 0.5464 0.2178 0.4365 0.4548 0.4284 het 2174.49 211 8 27255128 . T C 2174.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.789;DP=211;Dels=0.00;FS=1.119;HRun=1;HaplotypeScore=3.5640;MQ=59.58;MQ0=0;MQRankSum=0.092;QD=10.31;ReadPosRankSum=-0.598;VQSLOD=6.2228;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:126,85:211:99:2204,0,3211 8 27255146 27255146 G A exonic PTK2B synonymous SNV PTK2B:NM_173175:exon2:c.G45A:p.T15T,PTK2B:NM_173176:exon2:c.G45A:p.T15T,PTK2B:NM_004103:exon3:c.G45A:p.T15T,PTK2B:NM_173174:exon7:c.G45A:p.T15T 0.31 0.18 0.38 0.27 0.43 0.35 0.3980 0.2023 0.4074 0.2583 0.4397 0.4515 0.4438 0.3522 0.37 0.21 0.45 0.32 0.48 rs1045511 COSM3982488;COSM3982489 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4017 0.1986 0.3949 0.5548 0.2516 0.4400 0.4442 0.4462 0.3557 0.3684 0.2049 0.4101 0.5464 0.2185 0.4365 0.4544 0.4265 het 2245.20 202 8 27255146 . G A 2245.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.168;DP=202;Dels=0.00;FS=2.472;HRun=0;HaplotypeScore=7.9391;MQ=59.45;MQ0=0;MQRankSum=0.161;QD=11.11;ReadPosRankSum=0.762;VQSLOD=4.6200;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,83:202:99:2275,0,3008 8 27255263 27255263 A G exonic PTK2B synonymous SNV PTK2B:NM_173175:exon2:c.A162G:p.K54K,PTK2B:NM_173176:exon2:c.A162G:p.K54K,PTK2B:NM_004103:exon3:c.A162G:p.K54K,PTK2B:NM_173174:exon7:c.A162G:p.K54K 0.32 0.21 0.38 0.27 0.43 0.35 0.3998 0.2220 0.4080 0.2589 0.4398 0.4516 0.4438 0.3521 0.37 0.23 0.45 0.33 0.53 rs1045512 COSM5019062;COSM150475 1(stomach);16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4033 0.2197 0.3957 0.5549 0.2515 0.4402 0.4443 0.4471 0.3558 0.3747 0.2266 0.4105 0.5464 0.2182 0.4364 0.4545 0.4293 het 2669.60 201 8 27255263 . A G 2669.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.549;DP=201;Dels=0.00;FS=1.101;HRun=0;HaplotypeScore=0.9159;MQ=57.79;MQ0=0;MQRankSum=-0.212;QD=13.28;ReadPosRankSum=0.612;VQSLOD=5.0634;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,99:201:99:2700,0,2810 8 27308585 27308585 A C exonic PTK2B nonsynonymous SNV PTK2B:NM_173175:exon25:c.A2387C:p.K796T,PTK2B:NM_173176:exon26:c.A2513C:p.K838T,PTK2B:NM_004103:exon27:c.A2513C:p.K838T,PTK2B:NM_173174:exon31:c.A2513C:p.K838T 0.36 0.24 0.41 0.36 0.46 0.41 0.4370 0.2786 0.4234 0.3453 0.5257 0.4762 0.4912 0.3971 0.4 0.28 0.46 0.36 0.52 rs751019 . . . . . . . . . . . . . 0.439 0.231 T 0.003 0.156 B 0.003 0.080 B 0.016 0.281 N 0.980 0.331 P 1.1 0.281 L -0.83 0.743 T -0.92 0.247 N 0.091 0.269 -0.955 0.402 T 0.000 0.000 T . . . 0.880 0.178 9.948 0.953 0.260 0.882 0.477 D c -0.527 -0.326 0.844 0.249 0.672 0.522 0 4.26 0.497 2.917 0.483 0.157 0.243 1.000 0.715 0.976 0.476 8.073 0.297 . ENSG00000120903.6|ENSG00000120899.13 Brain_Cerebellum|Thyroid 0.4406 0.2719 0.4153 0.5917 0.3440 0.5215 0.4666 0.4748 0.3988 0.4118 0.2737 0.4402 0.6067 0.3280 0.5192 0.4682 0.4486 het 1231.95 117 8 27308585 . A C 1231.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.737;DP=117;Dels=0.00;FS=0.696;HRun=0;HaplotypeScore=1.8675;MQ=59.09;MQ0=0;MQRankSum=1.140;QD=10.53;ReadPosRankSum=-0.489;VQSLOD=6.6593;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,49:117:99:1262,0,1735 8 27311703 27311703 T C exonic PTK2B synonymous SNV PTK2B:NM_173175:exon28:c.T2502C:p.T834T,PTK2B:NM_173176:exon29:c.T2628C:p.T876T,PTK2B:NM_004103:exon30:c.T2628C:p.T876T,PTK2B:NM_173174:exon34:c.T2628C:p.T876T 0.8 0.9 0.82 0.56 0.85 0.84 0.8359 0.8992 0.8044 0.5318 0.8333 0.8650 0.8392 0.8603 0.87 0.89 0.87 0.8 0.89 rs1879184 COSM4416168;COSM4416169 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8338 0.8985 0.8074 0.9269 0.5261 0.8358 0.8621 0.8572 0.8646 0.8477 0.8997 0.8177 0.9338 0.5230 0.8302 0.8582 0.8200 het 1538.17 106 8 27311703 . T C 1538.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.464;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4403;MQ=59.07;MQ0=0;MQRankSum=0.645;QD=14.51;ReadPosRankSum=-0.946;VQSLOD=4.8972;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:43,62:106:99:1568,0,1126 8 27315876 27315876 A G exonic PTK2B synonymous SNV PTK2B:NM_173175:exon30:c.A2754G:p.A918A,PTK2B:NM_173176:exon31:c.A2880G:p.A960A,PTK2B:NM_004103:exon32:c.A2880G:p.A960A,PTK2B:NM_173174:exon36:c.A2880G:p.A960A 0.8 0.89 0.82 0.56 0.85 0.84 0.8338 0.8873 0.8021 0.5247 0.8322 0.8645 0.8393 0.8602 0.87 0.88 0.87 0.79 0.89 rs1879182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8326 0.8878 0.8065 0.9270 0.5235 0.8357 0.8618 0.8560 0.8647 0.8450 0.8910 0.8162 0.9338 0.5217 0.8303 0.8581 0.8187 het 842.83 81 8 27315876 . A G 842.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.341;DP=81;Dels=0.00;FS=0.940;HRun=0;HaplotypeScore=7.4127;MQ=58.56;MQ0=0;MQRankSum=0.181;QD=10.41;ReadPosRankSum=0.088;VQSLOD=4.8073;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,33:81:99:873,0,1216 8 27315900 27315900 A G exonic PTK2B synonymous SNV PTK2B:NM_173175:exon30:c.A2778G:p.L926L,PTK2B:NM_173176:exon31:c.A2904G:p.L968L,PTK2B:NM_004103:exon32:c.A2904G:p.L968L,PTK2B:NM_173174:exon36:c.A2904G:p.L968L 0.79 0.88 0.82 0.56 0.85 0.84 0.8334 0.8796 0.8022 0.5265 0.8341 0.8644 0.8393 0.8602 0.87 0.87 0.87 0.79 0.89 rs1879181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8320 0.8801 0.8063 0.9268 0.5236 0.8356 0.8616 0.8558 0.8644 0.8422 0.8808 0.8162 0.9338 0.5222 0.8303 0.8582 0.8187 het 852.37 61 8 27315900 . A G 852.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.830;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6996;MQ=58.55;MQ0=0;MQRankSum=1.003;QD=13.97;ReadPosRankSum=0.454;VQSLOD=6.1298;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,30:61:99:882,0,942 8 27324822 27324822 T C exonic CHRNA2 nonsynonymous SNV CHRNA2:NM_000742:exon5:c.A373G:p.T125A,CHRNA2:NM_001282455:exon5:c.A328G:p.T110A 0.61 0.83 0.56 0.65 0.51 0.41 0.5311 0.7708 0.5938 0.6506 0.5245 0.5000 0.5265 0.4024 0.58 0.76 0.49 0.7 0.54 rs891398 . . other|Benign not_specified|Nocturnal_Frontal_Lobe_Epilepsy RCV000116712.4|RCV000355819.1 MedGen|MedGen CN169374|CN239357 . . . . . . 0.808 0.030 T 0.0 0.026 B 0.0 0.013 B 0.002 0.379 N 1 0.090 P -1.09 0.010 N -1.17 0.782 T 0.47 0.032 N 0.062 0.047 -0.957 0.398 T 0.000 0.000 T . . . -1.448 0.018 0.003 0.265 0.013 0.024 0.067 N c -1.230 -1.101 0.989 0.316 0.497 0.185 0 3.46 0.386 0.868 0.274 0.016 0.142 0.073 0.219 0.003 0.074 5.715 0.171 Neurotransmitter-gated ion-channel ligand-binding domain . . 0.5281 0.7769 0.5902 0.5158 0.6465 0.5234 0.4951 0.5242 0.3981 0.5883 0.7678 0.5742 0.5232 0.6193 0.5175 0.5042 0.5102 het 1304.06 117 8 27324822 . T C 1304.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.583;DP=117;Dels=0.00;FS=1.486;HRun=0;HaplotypeScore=4.5377;MQ=59.11;MQ0=0;MQRankSum=0.771;QD=11.15;ReadPosRankSum=-0.511;VQSLOD=5.9347;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,56:117:99:1334,0,1471 8 27324844 27324844 G A exonic CHRNA2 synonymous SNV CHRNA2:NM_000742:exon5:c.C351T:p.D117D,CHRNA2:NM_001282455:exon5:c.C306T:p.D102D 0.24 0.26 0.2 0.42 0.14 0.15 0.1701 0.2295 0.2027 0.4387 0.1665 0.1297 0.1645 0.1343 0.17 0.24 0.13 0.24 0.09 rs2565061 . . other|Benign not_specified|Nocturnal_Frontal_Lobe_Epilepsy RCV000116711.3|RCV000261002.1 MedGen|MedGen CN169374|CN239357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1696 0.2305 0.1980 0.0660 0.4423 0.1642 0.1326 0.1499 0.1308 0.1833 0.2248 0.1874 0.0629 0.4324 0.1666 0.1386 0.1813 het 1107.28 96 8 27324844 . G A 1107.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.028;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9937;MQ=58.91;MQ0=0;MQRankSum=0.092;QD=11.53;ReadPosRankSum=-1.977;VQSLOD=5.9332;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,46:96:99:1137,0,1352 8 27328511 27328511 G A exonic CHRNA2 nonsynonymous SNV CHRNA2:NM_000742:exon2:c.C65T:p.T22I,CHRNA2:NM_001282455:exon2:c.C65T:p.T22I 0.22 0.19 0.19 0.43 0.14 0.15 0.1647 0.1700 0.1991 0.4493 0.1687 0.1290 0.1626 0.1310 0.15 0.18 0.13 0.22 0.09 rs2472553 . . other|Benign not_specified|Nocturnal_Frontal_Lobe_Epilepsy RCV000116713.4|RCV000295942.1 MedGen|MedGen CN169374|CN239357 . . . . . . 1.0 0.032 T 0.0 0.026 B 0.0 0.013 B 0.001 0.006 N 1 0.090 P 0 0.065 N 0.51 0.555 T 0.23 0.514 N 0.015 0.432 -0.974 0.365 T 0.000 0.000 T . . . -2.211 0.006 0.001 0.061 0.000 0.010 0.037 N c -1.461 -1.417 0.999 0.387 0.497 0.185 0 -2.5 0.060 0.296 0.187 -0.974 0.023 0.791 0.294 0.181 0.213 5.118 0.141 . . . 0.1656 0.1740 0.1949 0.0661 0.4516 0.1645 0.1318 0.1467 0.1271 0.1666 0.1648 0.1802 0.0629 0.4409 0.1678 0.1388 0.1742 het 798.42 72 8 27328511 . G A 798.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.382;DP=72;Dels=0.00;FS=2.007;HRun=0;HaplotypeScore=3.3288;MQ=59.48;MQ0=0;MQRankSum=1.583;QD=11.09;ReadPosRankSum=-1.295;VQSLOD=5.5366;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,37:72:99:828,0,1043 8 27358505 27358505 A G exonic EPHX2 nonsynonymous SNV EPHX2:NM_001256482:exon2:c.A5G:p.K2R,EPHX2:NM_001256484:exon2:c.A5G:p.K2R,EPHX2:NM_001979:exon2:c.A164G:p.K55R 0.1 0.22 0.084 0.001 0.086 0.069 0.0901 0.2186 0.0487 0.0002 0.0826 0.0966 0.0881 0.0620 0.14 0.22 0.1 0.14 0.09 rs41507953 COSM3763287 3(soft_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.051 T 0.0 0.026 B 0.002 0.104 B 0.278 0.150 N 1 0.198 P -0.82 0.015 N 3.02 0.090 T 0.49 0.038 N 0.034 0.157 -1.034 0.191 T 0.000 0.000 T . . . -1.562 0.015 0.002 0.291 0.015 0.003 0.017 N c -1.759 -1.752 0.913 0.264 0.706 0.609 0 -5.81 0.021 -1.280 0.029 -0.768 0.033 0.050 0.212 0.510 0.273 7.534 0.267 HAD-like domain;HAD-like domain|Phosphoglycolate phosphatase\x2c domain 2;HAD-like domain|Phosphoglycolate phosphatase\x2c domain 2|Predicted HAD-superfamily phosphatase\x2c subfamily IA/Epoxide hydrolase\x2c N-terminal;Phosphoglycolate phosphatase\x2c domain 2 ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9|ENSG00000120915.9 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.0866 0.2159 0.05 0.0811 0.0002 0.0831 0.1010 0.0925 0.0615 0.1272 0.2227 0.0634 0.0894 0 0.0785 0.1038 0.0855 het 1466.45 148 8 27358505 . A G 1466.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.195;DP=148;Dels=0.00;FS=3.089;HRun=0;HaplotypeScore=5.5389;MQ=59.45;MQ0=0;MQRankSum=0.223;QD=9.91;ReadPosRankSum=-1.141;VQSLOD=4.7323;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,59:148:99:1496,0,2221 8 27394366 27394366 C T exonic EPHX2 synonymous SNV EPHX2:NM_001256483:exon12:c.C1038T:p.S346S,EPHX2:NM_001256482:exon13:c.C1077T:p.S359S,EPHX2:NM_001256484:exon13:c.C1077T:p.S359S,EPHX2:NM_001979:exon13:c.C1236T:p.S412S 0.063 0.084 0.081 0.001 0.085 0.062 0.0767 0.0808 0.0447 0.0010 0.0812 0.0950 0.0784 0.0606 0.095 0.082 0.1 0.087 0.074 rs13439459 COSM3763289 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0769 0.0802 0.0463 0.0797 0.0010 0.0814 0.1001 0.0843 0.0619 0.0852 0.0782 0.0590 0.0828 0.0006 0.0775 0.1021 0.0808 het 1069.61 84 8 27394366 . C T 1069.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.668;DP=84;Dels=0.00;FS=4.751;HRun=0;HaplotypeScore=0.8667;MQ=59.73;MQ0=0;MQRankSum=-0.678;QD=12.73;ReadPosRankSum=-1.244;VQSLOD=5.8760;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,45:84:99:1100,0,988 8 27401964 27401964 A C exonic EPHX2 synonymous SNV EPHX2:NM_001256483:exon18:c.A1395C:p.P465P,EPHX2:NM_001256482:exon19:c.A1434C:p.P478P,EPHX2:NM_001256484:exon19:c.A1434C:p.P478P,EPHX2:NM_001979:exon19:c.A1593C:p.P531P 0.43 0.77 0.26 0.41 0.24 0.32 0.3053 0.6751 0.2847 0.3709 0.2549 0.2519 0.2720 0.2906 0.4 0.65 0.27 0.46 0.27 rs1126452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2976 0.6834 0.2740 0.2443 0.3705 0.2576 0.2569 0.2785 0.2861 0.3840 0.6698 0.3103 0.2167 0.3598 0.2587 0.2634 0.2908 het 3093.61 248 8 27401964 . A C 3093.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.598;DP=248;DS;Dels=0.00;FS=4.345;HRun=2;HaplotypeScore=4.6919;MQ=58.47;MQ0=0;MQRankSum=1.927;QD=12.47;ReadPosRankSum=-0.046;VQSLOD=4.8627;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:131,117:248:99:3124,0,3481 8 27462481 27462481 A G exonic CLU synonymous SNV CLU:NM_001831:exon5:c.T789C:p.H263H 0.66 0.57 0.66 0.79 0.61 0.72 0.6357 0.5769 0.6784 0.7831 0.5927 0.6049 0.6520 0.7066 0.6 0.59 0.6 0.62 0.42 rs7982 COSM3763291 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6371 0.5755 0.6779 0.6008 0.7835 0.5981 0.6042 0.6340 0.7007 0.6124 0.5819 0.6906 0.5563 0.7994 0.5959 0.6103 0.6160 het 3814.51 207 8 27462481 . A G 3814.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.969;DP=207;DS;Dels=0.00;FS=5.357;HRun=0;HaplotypeScore=6.4908;MQ=58.99;MQ0=0;MQRankSum=0.284;QD=18.43;ReadPosRankSum=-0.646;VQSLOD=3.6454;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,123:207:99:3305,0,2032 8 27667969 27667969 C G exonic PBK synonymous SNV PBK:NM_001278945:exon8:c.G855C:p.A285A,PBK:NM_018492:exon8:c.G822C:p.A274A 0.42 0.43 0.42 0.38 0.46 0.4 0.4288 0.4172 0.3366 0.3991 0.4669 0.4490 0.4746 0.4162 0.44 0.42 0.44 0.42 0.44 rs2294092 COSM5765845;COSM5765846 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4298 0.4201 0.3444 0.5913 0.3980 0.4691 0.4421 0.4559 0.4164 0.4288 0.4204 0.3573 0.6159 0.4077 0.4751 0.4252 0.4316 hom 2980.75 92 8 27667969 . C G 2980.75 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8226;MQ=59.53;MQ0=0;QD=32.40;VQSLOD=8.8639;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3014,229,0 8 27737198 27737198 A G exonic SCARA5 synonymous SNV SCARA5:NM_173833:exon8:c.T1239C:p.R413R 0.84 0.88 0.9 0.79 0.84 0.79 0.8630 0.8839 0.9272 0.8025 0.9188 0.8611 0.8565 0.8224 0.87 0.88 0.86 0.86 0.9 rs4732610 COSM3763293 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8658 0.8853 0.9203 0.8326 0.7942 0.9185 0.8623 0.8551 0.8259 0.8761 0.8772 0.9153 0.7967 0.7981 0.9181 0.8733 0.8791 hom 5014.71 153 8 27737198 . A G 5014.71 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.428;DP=153;Dels=0.00;FS=7.202;HRun=0;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;MQRankSum=1.662;QD=32.78;ReadPosRankSum=1.287;VQSLOD=3.7807;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,151:153:99:4982,371,0 8 27886903 27886903 C T exonic NUGGC synonymous SNV NUGGC:NM_001010906:exon17:c.G2034A:p.T678T 0.33 0.43 0.29 0.12 0.43 0.32 0.3797 0.4294 0.2127 0.1170 0.4897 0.4330 0.4330 0.3362 0.43 0.42 0.44 0.28 . rs9314357 COSM3982497;COSM3982496 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3714 0.4192 0.2243 0.4476 0.1151 0.4931 0.4291 0.4177 0.3260 0.4130 0.4324 0.2536 0.4764 0.0978 0.4951 0.4236 0.4233 het 438.25 34 8 27886903 . C T 438.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.416;DP=34;Dels=0.00;FS=5.231;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.971;QD=12.89;ReadPosRankSum=-0.590;VQSLOD=5.8489;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,19:34:99:468,0,410 8 27903069 27903069 C T exonic NUGGC nonsynonymous SNV NUGGC:NM_001010906:exon12:c.G1421A:p.S474N 0.38 0.43 0.41 0.44 0.3 0.31 0.3412 0.4034 0.5150 0.4579 0.3842 0.2895 0.3255 0.3140 0.31 0.38 0.28 0.39 . rs13279787 COSM3763296;COSM3763297 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.393 0.107 T 0.001 0.067 B 0.001 0.040 B 0.005 0.330 N 0.990 0.242 P 1.59 0.404 L 1.49 0.315 T -0.05 0.078 N 0.002 0.000 -0.901 0.480 T 0.000 0.000 T . . . 1.085 0.198 11.14 0.934 0.226 0.448 0.272 N c -0.583 -0.457 0.009 0.117 0.554 0.283 0 2.29 0.275 0.615 0.238 -0.031 0.126 0.980 0.350 0.579 0.285 6.573 0.216 . . . 0.3435 0.4037 0.4984 0.2306 0.4507 0.3763 0.2868 0.3242 0.3062 0.3456 0.3940 0.4666 0.1987 0.4411 0.3892 0.2941 0.3327 het 912.72 72 8 27903069 . C T 912.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.697;DP=72;Dels=0.00;FS=5.025;HRun=1;HaplotypeScore=2.3620;MQ=59.03;MQ0=0;MQRankSum=1.524;QD=12.68;ReadPosRankSum=0.236;VQSLOD=5.3565;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,36:72:99:943,0,1036 8 27918057 27918057 T C exonic NUGGC nonsynonymous SNV NUGGC:NM_001010906:exon8:c.A983G:p.Q328R 0.97 0.87 0.99 1. 1. 1. 0.9900 0.8943 0.9935 1 1 0.9986 0.9978 0.9998 0.96 0.89 1. 0.94 . rs7817227 . . . . . . . . . . . . . 0.634 0.051 T 0.0 0.026 B 0.0 0.013 B 0.005 0.332 N 1 0.090 P -2.14 0.001 N -3.85 0.959 D 1.29 0.010 N 0.013 0.002 -0.956 0.400 T 0.000 0.000 T . . . -1.959 0.009 0.001 0.311 0.017 0.023 0.066 N c -1.436 -1.326 0.793 0.240 0.625 0.396 0 1.29 0.206 0.525 0.225 -1.066 0.020 0.329 0.254 0.005 0.090 7.386 0.259 P-loop containing nucleoside triphosphate hydrolase . . 0.9913 0.8918 0.9927 0.9877 0.9999 1 0.9991 0.9945 0.9998 0.9690 0.8937 0.9940 0.9934 1 1 0.9988 0.9918 hom 1977.28 69 8 27918057 . T C 1977.28 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;QD=28.66;VQSLOD=8.0150;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2010,174,0 8 27925204 27925204 T C exonic NUGGC nonsynonymous SNV NUGGC:NM_001010906:exon6:c.A538G:p.S180G 0.58 0.61 0.61 0.61 0.52 0.58 0.5706 0.6006 0.6451 0.6260 0.5391 0.5436 0.6004 0.5919 0.56 0.6 0.54 0.5 . rs4732620 COSM3763301;COSM3763300 1(large_intestine) . . . . . . . . . . . 0.654 0.048 T 0.0 0.026 B 0.0 0.013 B 0.316 0.143 N 1 0.090 P -0.785 0.016 N -4.2 0.969 D 0.9 0.016 N 0.021 0.005 -0.920 0.456 T 0.000 0.000 T . . . -1.563 0.015 0.002 0.314 0.018 0.005 0.024 N c -1.304 -1.217 0.989 0.317 0.625 0.396 0 0.743 0.174 -0.617 0.056 0.036 0.152 0.000 0.063 0.016 0.126 1.212 0.018 P-loop containing nucleoside triphosphate hydrolase ENSG00000134014.12 Thyroid 0.5727 0.5969 0.6402 0.5642 0.6231 0.5362 0.5436 0.5703 0.5937 0.5615 0.5917 0.6400 0.5397 0.6165 0.5459 0.5383 0.55 hom 1920.72 61 8 27925204 . T C 1920.72 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=58.17;MQ0=0;QD=31.49;VQSLOD=8.7485;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1954,150,0 8 28206275 28206275 G C exonic ZNF395 synonymous SNV ZNF395:NM_018660:exon10:c.C1503G:p.A501A 0.32 0.15 0.49 0.39 0.32 0.34 0.3257 0.1742 0.5282 0.3748 0.3025 0.3106 0.3156 0.3231 0.27 0.18 0.31 0.26 0.24 rs1046511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3346 0.1659 0.5165 0.3017 0.3709 0.2974 0.3104 0.3377 0.3240 0.2727 0.1730 0.4749 0.2980 0.3694 0.2936 0.3013 0.3074 het 1589.19 115 8 28206275 . G C 1589.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.425;DP=115;Dels=0.00;FS=5.922;HRun=0;HaplotypeScore=6.2590;MQ=59.47;MQ0=0;MQRankSum=1.160;QD=13.82;ReadPosRankSum=2.060;VQSLOD=3.9031;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,63:115:99:1619,0,1378 8 28304769 28304769 C T exonic FBXO16 nonsynonymous SNV FBXO16:NM_001258211:exon6:c.G726A:p.M242I,FBXO16:NM_172366:exon7:c.G762A:p.M254I 0.47 0.6 0.42 0.55 0.36 0.38 0.4065 0.5580 0.5173 0.5539 0.2858 0.3630 0.3756 0.3820 0.43 0.54 0.37 0.41 0.34 rs1390963 COSM3763308 1(large_intestine) . . . . . . . . . . . 0.48 0.091 T 0.002 0.090 B 0.005 0.104 B 0.755 0.097 U 0.997 0.228 P 2.045 0.562 M 2.55 0.138 T -0.86 0.275 N 0.091 0.130 -0.937 0.431 T 0.000 0.000 T . . . 2.760 0.393 21.2 0.977 0.349 0.617 0.313 D c -0.176 -0.045 0.993 0.330 0.706 0.609 0 5.01 0.663 0.313 0.190 0.803 0.325 0.975 0.345 0.558 0.281 14.175 0.649 . . . 0.4028 0.5599 0.5122 0.3212 0.5483 0.2866 0.3638 0.3833 0.3779 0.4020 0.5461 0.4569 0.3167 0.5543 0.2738 0.3329 0.3673 het 1862.68 159 8 28304769 . C T 1862.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.100;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7099;MQ=59.38;MQ0=0;MQRankSum=0.991;QD=11.71;ReadPosRankSum=-0.450;VQSLOD=5.9872;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,78:159:99:1893,0,2188 8 28384712 28384712 A G exonic FZD3 synonymous SNV FZD3:NM_145866:exon4:c.A435G:p.L145L,FZD3:NM_017412:exon5:c.A435G:p.L145L 0.54 0.39 0.6 0.57 0.59 0.62 0.5690 0.4145 0.5466 0.5878 0.5935 0.5777 0.6189 0.6249 0.52 0.43 0.57 0.5 0.57 rs2241802 COSM3763309 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5704 0.4075 0.5523 0.6310 0.5860 0.5904 0.5698 0.5815 0.6289 0.5279 0.4189 0.5324 0.6291 0.5976 0.5885 0.5635 0.5869 hom 3657.94 119 8 28384712 . A G 3657.94 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=30.74;VQSLOD=9.4852;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3658,274,0 8 29005093 29005093 A G exonic KIF13B synonymous SNV KIF13B:NM_015254:exon17:c.T1840C:p.L614L 0.73 0.79 0.84 0.41 0.87 0.76 0.8140 0.8060 0.7804 0.4282 0.8727 0.8743 0.8207 0.7747 0.85 0.82 0.87 0.75 . rs6986672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8106 0.8052 0.7897 0.8877 0.4157 0.8699 0.8702 0.8307 0.7705 0.8191 0.8057 0.7823 0.8775 0.3957 0.8634 0.8620 0.8313 het 311.79 44 8 29005093 . A G 311.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.446;DP=44;Dels=0.00;FS=1.238;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.074;QD=7.09;ReadPosRankSum=0.569;VQSLOD=5.2025;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,15:44:99:342,0,795 8 29197672 29197672 A G exonic DUSP4 synonymous SNV DUSP4:NM_001394:exon2:c.T522C:p.S174S,DUSP4:NM_057158:exon3:c.T249C:p.S83S 0.62 0.81 0.65 0.66 0.45 0.48 0.5589 0.7892 0.7619 0.6496 0.5197 0.4899 0.5028 0.5004 0.53 0.75 0.42 0.61 0.3 rs583034 COSM3721589;COSM3721588 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5138 0.7769 0.7125 0.5233 0.6328 0.4654 0.4222 0.4964 0.4664 0.5519 0.7727 0.6523 0.55 0.6425 0.4768 0.4305 0.4775 het 385.19 25 8 29197672 . A G 385.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.909;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;MQRankSum=-0.337;QD=15.41;ReadPosRankSum=-0.949;VQSLOD=6.0138;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,16:25:99:415,0,204 8 29927300 29927300 C G exonic SARAF synonymous SNV SARAF:NM_001284239:exon2:c.G42C:p.A14A,SARAF:NM_016127:exon3:c.G558C:p.A186A 0.98 0.92 0.99 1. 1. 1. 0.9944 0.9381 0.9971 1 1 1.0000 0.9978 1 0.98 0.95 1. 0.98 1. rs6468093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9352 0.9967 1 1 1 0.9999 0.9985 0.9999 0.9829 0.9403 0.9952 1 1 1 0.9998 0.9980 hom 3844.21 117 8 29927300 . C G 3844.21 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3990;MQ=59.45;MQ0=0;QD=32.86;VQSLOD=9.3197;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3844,301,0 8 29927321 29927321 A G exonic SARAF synonymous SNV SARAF:NM_001284239:exon2:c.T21C:p.I7I,SARAF:NM_016127:exon3:c.T537C:p.I179I 0.97 0.9 0.99 1. 1. 1. 0.9930 0.9246 0.9964 1 0.9992 0.9999 0.9967 0.9998 0.98 0.94 1. 0.95 0.98 rs6468094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9211 0.9960 1 1 0.9996 0.9999 0.9978 0.9997 0.9784 0.9248 0.9952 1 1 0.9991 0.9997 0.9980 hom 3302.47 106 8 29927321 . A G 3302.47 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4202;MQ=59.39;MQ0=0;QD=31.16;VQSLOD=8.2744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3302,274,0 8 30608976 30608976 C T exonic UBXN8 unknown UNKNOWN 1. 0.99 1. 1. 1. 1. 0.9994 0.9923 0.9999 1 1 1 0.9989 1 1. 0.99 1. 1. . rs2911690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.099 0.101 . . . . . . . . . 2.094 0.313 16.81 0.800 0.126 0.007 0.030 N n 1.413 0.066 0.655 0.222 0.263 0.038 0 4.55 0.553 1.289 0.327 0.141 0.225 0.998 0.411 0.996 0.625 6.975 0.237 . . . 0.9995 0.9923 0.9998 1 1 1 1 1 1 0.9980 0.9930 1 1 1 1 1 0.9990 hom 1317.78 46 8 30608976 . C T 1317.78 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=28.65;VQSLOD=8.8532;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1351,102,0 8 30620840 30620840 - T exonic UBXN8 unknown UNKNOWN 1. 0.99 1. 1. 1. 1. 0.9993 0.9922 0.9999 1 1 1.0000 0.9989 0.9999 1. 0.99 1. . . rs386412483 COSM4603367 22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9924 0.9998 1 1 1 1.0000 1 1.0000 0.9980 0.9930 1 1 1 1 0.9999 0.9990 hom 4915.69 129 8 30620840 . G GT 4915.69 Mask AC=2;AF=1.00;AN=2;DP=129;FS=0.000;HRun=4;HaplotypeScore=263.5284;MQ=59.87;MQ0=0;QD=38.11;set=variant2 GT:AD:DP:GQ:PL 1/1:9,120:129:99:4916,364,0 8 30694893 30694893 T C exonic TEX15 synonymous SNV TEX15:NM_001350162:exon10:c.A8907G:p.T2969T . . . . . . 8.241e-06 0 8.658e-05 0 0 0 0 0 . . . . . rs758061837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.626e-05 0 5.96e-05 0 0 0 1.794e-05 0 0 3.228e-05 0 0 0 0 0 6.663e-05 0 het 2043.74 140 8 30694893 . T C 2043.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.099;DP=140;Dels=0.00;FS=2.152;HRun=0;HaplotypeScore=1.9323;MQ=59.70;MQ0=0;MQRankSum=-0.736;QD=14.60;ReadPosRankSum=-1.254;VQSLOD=4.5168;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,78:140:99:2074,0,1656 8 30695226 30695226 C T exonic TEX15 synonymous SNV TEX15:NM_001350162:exon10:c.G8574A:p.T2858T 0.98 0.91 0.99 1. 1. 1. 0.9930 0.9234 0.9982 1 1 0.9996 0.9989 0.9998 0.98 0.93 1. 0.98 1. rs2720593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9946 0.9244 0.9965 0.9983 1 1 0.9997 0.9980 0.9999 0.9789 0.9257 0.9976 1 1 1 0.9998 1 hom 2961.05 97 8 30695226 . C T 2961.05 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.76;MQ0=0;QD=30.53;VQSLOD=8.5217;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2994,250,0 8 30924557 30924557 C T exonic WRN synonymous SNV WRN:NM_000553:exon6:c.C513T:p.C171C 0.69 0.49 0.79 0.87 0.71 0.67 0.7032 0.5301 0.7667 0.8605 0.7581 0.7040 0.7247 0.6589 0.65 0.54 0.71 0.66 0.74 rs1800389 . . Benign|Benign not_specified|Werner_syndrome RCV000118881.2|RCV000313663.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043119:277700:ORPHA902:51626007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7128 0.5260 0.7686 0.7361 0.8654 0.7474 0.7041 0.7081 0.6595 0.6708 0.5312 0.7715 0.7219 0.8622 0.7583 0.7012 0.7147 hom 2068.23 70 8 30924557 . C T 2068.23 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.34;MQ0=0;QD=29.55;VQSLOD=8.7040;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2101,174,0 8 30973957 30973957 G T exonic WRN synonymous SNV WRN:NM_000553:exon20:c.G2361T:p.L787L 0.47 0.42 0.58 0.62 0.45 0.33 0.4466 0.4167 0.5555 0.6202 0.3781 0.4468 0.4581 0.3244 0.45 0.41 0.47 0.46 0.47 rs1800392 COSM3763318 1(large_intestine) other|Benign not_specified|Werner_syndrome RCV000118876.3|RCV000358122.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043119:277700:ORPHA902:51626007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4529 0.4143 0.5600 0.4479 0.6294 0.3680 0.4511 0.4525 0.3261 0.4285 0.4064 0.5598 0.4570 0.6073 0.3639 0.4294 0.4255 het 1367.79 114 8 30973957 . G T 1367.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.601;DP=114;Dels=0.00;FS=2.451;HRun=1;HaplotypeScore=2.5830;MQ=59.47;MQ0=0;MQRankSum=-0.162;QD=12.00;ReadPosRankSum=-0.729;VQSLOD=6.5426;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,54:114:99:1398,0,1589 8 31024638 31024638 C T exonic WRN synonymous SNV WRN:NM_000553:exon34:c.C4083T:p.S1361S 0.27 0.26 0.25 0.23 0.29 0.33 0.2989 0.2677 0.2728 0.2327 0.3503 0.3015 0.2996 0.3402 0.28 0.27 0.29 0.26 0.39 rs1801196 COSM3763320 10(soft_tissue);1(skin);1(large_intestine) other|Likely benign not_specified|Werner_syndrome RCV000118879.3|RCV000368541.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043119:277700:ORPHA902:51626007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2975 0.2647 0.2666 0.3159 0.2246 0.3501 0.2980 0.3016 0.3413 0.2986 0.2714 0.2907 0.3278 0.2360 0.3533 0.3079 0.3033 hom 1698.14 59 8 31024638 . C T 1698.14 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.22;MQ0=0;QD=28.78;VQSLOD=8.1738;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:59:99:1731,135,0 8 33230203 33230203 A T exonic FUT10 synonymous SNV FUT10:NM_032664:exon5:c.T1332A:p.I444I 0.063 0.099 0.011 0.11 0.007 0.061 0.0298 0.0953 0.0063 0.1024 0.0046 0.0095 0.0110 0.0600 0.041 0.1 0.0091 0.087 0.025 rs2292747 COSM4416878 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0272 0.0964 0.0052 0.0167 0.1049 0.0041 0.0091 0.0170 0.0602 0.0405 0.1061 0.0072 0.0099 0.0902 0.0043 0.0091 0.0214 het 1014.69 86 8 33230203 . A T 1014.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.842;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8924;MQ=59.78;MQ0=0;MQRankSum=-0.112;QD=11.80;ReadPosRankSum=-0.363;VQSLOD=6.2822;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,41:86:99:1045,0,1311 8 33318891 33318891 T C exonic FUT10 nonsynonymous SNV FUT10:NM_032664:exon2:c.A80G:p.Q27R 0.001 . . . 0.004 0.001 0.0035 0.0011 0.0003 0 0.0035 0.0054 0.0024 0.0009 0.0034 0.0009 0.0047 . . rs144327642 . . . . . . . . . . . . . 0.179 0.220 T 0.501 0.424 P 0.115 0.451 B 0.002 0.009 N 0.974 0.810 D 2.3 0.659 M 1.9 0.235 T -0.88 0.238 N 0.778 0.770 -1.047 0.151 T 0.114 0.406 T 0.013 0.314 T 5.287 0.715 25.7 0.998 0.868 0.886 0.484 D c 0.325 0.418 0.998 0.363 0.719 0.830 0 5.79 0.917 4.620 0.607 1.058 0.762 1.000 0.715 0.998 0.697 12.575 0.555 . . . 0.0031 0.0009 0.0007 0.0075 0 0.0028 0.0050 0.0042 0.0007 0.0033 0.0006 0.0012 0.0033 0 0.0020 0.0053 0.0082 het 2051.17 180 8 33318891 . T C 2051.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.326;DP=180;Dels=0.00;FS=0.616;HRun=2;HaplotypeScore=1.9774;MQ=58.74;MQ0=0;MQRankSum=-0.316;QD=11.40;ReadPosRankSum=1.174;VQSLOD=4.5126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,78:180:99:2081,0,2736 8 33356074 33356074 A G exonic MAK16 nonsynonymous SNV MAK16:NM_032509:exon10:c.A830G:p.Q277R 0.55 0.68 0.49 0.49 0.63 0.42 0.5724 0.6837 0.4069 0.4862 0.6267 0.6184 0.5936 0.4543 0.64 0.68 0.62 0.65 0.61 rs6468171 COSM5021561 1(bone);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.288 0.148 N 1 0.090 P -1.285 0.007 N 1.04 0.402 T 1.18 0.011 N 0.005 0.007 -1.008 0.276 T 0.000 0.000 T . . . -3.033 0.001 0.001 0.296 0.016 0.035 0.085 N c -2.249 -2.211 1.000 0.448 0.707 0.730 0 -7.74 0.011 0.101 0.150 -1.576 0.009 0.018 0.193 0.027 0.143 11.616 0.502 . ENSG00000272338.1|ENSG00000172728.11|ENSG00000198042.6|ENSG00000172728.11|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000198042.6|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.5614 0.6834 0.4223 0.5491 0.4861 0.6168 0.6173 0.5784 0.4531 0.6149 0.6748 0.4654 0.54 0.4851 0.6077 0.6072 0.5902 het 1377.63 119 8 33356074 . A G 1377.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.906;DP=119;Dels=0.00;FS=7.113;HRun=1;HaplotypeScore=7.0688;MQ=59.32;MQ0=0;MQRankSum=1.457;QD=11.58;ReadPosRankSum=-2.040;VQSLOD=3.7895;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,53:119:99:1408,0,1718 8 33369944 33369944 T C exonic TTI2 nonsynonymous SNV TTI2:NM_025115:exon1:c.A188G:p.E63G,TTI2:NM_001102401:exon2:c.A188G:p.E63G,TTI2:NM_001265581:exon2:c.A188G:p.E63G,TTI2:NM_001330505:exon2:c.A188G:p.E63G 0.51 0.45 0.47 0.56 0.63 0.45 0.5614 0.4626 0.3893 0.5677 0.6427 0.6177 0.5969 0.4786 0.56 0.46 0.62 0.55 0.6 rs2304748 . . . . . . . . . . . . . 0.044 0.524 D 0.689 0.397 P 0.186 0.344 B 0.011 0.296 N 1.000 0.090 P 2.015 0.552 M 0.26 0.596 T -1.77 0.695 N 0.124 0.266 -0.922 0.453 T 0.000 0.000 T . . . 1.840 0.282 15.23 0.993 0.598 0.177 0.197 N c -0.452 -0.571 1.000 0.747 0.628 0.401 0 3.34 0.372 0.763 0.260 0.964 0.580 0.135 0.232 0.006 0.095 8.882 0.344 . ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11|ENSG00000272338.1|ENSG00000172728.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5546 0.4535 0.4058 0.5778 0.5706 0.6342 0.6138 0.5735 0.4749 0.5657 0.4524 0.4388 0.5960 0.5776 0.6222 0.6219 0.5920 het 2116.34 140 8 33369944 . T C 2116.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.257;DP=140;Dels=0.00;FS=5.208;HRun=1;HaplotypeScore=1.7719;MQ=60.00;MQ0=0;MQRankSum=0.052;QD=15.12;ReadPosRankSum=-0.829;VQSLOD=5.7012;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,78:140:99:2146,0,1642 8 33369994 33369994 A G exonic TTI2 synonymous SNV TTI2:NM_025115:exon1:c.T138C:p.N46N,TTI2:NM_001102401:exon2:c.T138C:p.N46N,TTI2:NM_001265581:exon2:c.T138C:p.N46N,TTI2:NM_001330505:exon2:c.T138C:p.N46N 0.58 0.67 0.5 0.56 0.66 0.46 0.6016 0.6713 0.4122 0.5685 0.6595 0.6471 0.6311 0.4990 0.66 0.67 0.65 0.67 0.63 rs3098657 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5904 0.6675 0.4296 0.5976 0.5710 0.6519 0.6437 0.6034 0.4957 0.6433 0.6634 0.4736 0.6093 0.5785 0.6440 0.6493 0.6301 het 2422.96 195 8 33369994 . A G 2422.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.022;DP=195;Dels=0.00;FS=5.217;HRun=0;HaplotypeScore=4.9075;MQ=59.81;MQ0=0;MQRankSum=-0.800;QD=12.43;ReadPosRankSum=1.195;VQSLOD=4.4659;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,98:195:99:2453,0,2762 8 33416189 33416189 G A exonic RNF122 synonymous SNV RNF122:NM_024787:exon2:c.C126T:p.F42F 0.5 0.62 0.45 0.38 0.56 0.42 0.5097 0.6113 0.3538 0.3943 0.5710 0.5514 0.5297 0.4212 0.57 0.6 0.56 0.55 0.54 rs3735950 COSM3982527 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5019 0.6098 0.3565 0.5177 0.3940 0.5615 0.5542 0.5261 0.4233 0.5468 0.6072 0.3914 0.5099 0.4061 0.5476 0.5378 0.5215 het 1546.46 148 8 33416189 . G A 1546.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.052;DP=148;Dels=0.00;FS=9.787;HRun=2;HaplotypeScore=1.8100;MQ=59.75;MQ0=0;MQRankSum=-0.119;QD=10.45;ReadPosRankSum=1.041;VQSLOD=4.4170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,60:148:99:1576,0,2184 8 33416222 33416222 C T exonic RNF122 synonymous SNV RNF122:NM_024787:exon2:c.G93A:p.Q31Q 0.61 0.85 0.5 0.5 0.59 0.5 0.5717 0.8275 0.3814 0.5359 0.6052 0.5825 0.5861 0.5050 0.67 0.81 0.59 0.66 0.61 rs3735951 COSM3982528 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5595 0.8299 0.3851 0.5526 0.5365 0.5958 0.5854 0.5657 0.5076 0.6404 0.8158 0.4356 0.55 0.5655 0.5845 0.5763 0.5808 het 2237.44 182 8 33416222 . C T 2237.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.704;DP=182;Dels=0.00;FS=0.542;HRun=1;HaplotypeScore=3.7348;MQ=59.67;MQ0=0;MQRankSum=0.154;QD=12.29;ReadPosRankSum=-2.634;VQSLOD=5.0273;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,86:182:99:2267,0,2579 8 36767024 36767024 T C exonic KCNU1 nonsynonymous SNV KCNU1:NM_001031836:exon21:c.T2302C:p.W768R 0.38 0.33 0.48 0.38 0.4 0.36 0.3942 0.3457 0.5040 0.3552 0.3744 0.4043 0.3460 0.3364 0.38 0.34 0.4 0.33 . rs28608091 COSM3763330;COSM3763329 1(bone);1(large_intestine) . . . . . . . . . . . 0.854 0.027 T 0.0 0.026 B 0.0 0.013 B 0.071 0.215 N 1.000 0.191 P -2.215 0.001 N 1.06 0.398 T 2.56 0.002 N 0.097 0.098 -0.919 0.457 T 0.000 0.000 T . . . 0.035 0.097 2.929 0.637 0.071 0.092 0.148 N c -1.030 -0.831 0.815 0.244 0.487 0.133 0 2.64 0.304 1.876 0.390 -0.019 0.130 0.900 0.312 0.124 0.197 8.636 0.329 NAD(P)-binding domain . . 0.3961 0.3470 0.5028 0.3290 0.3459 0.3686 0.4071 0.4080 0.3321 0.3832 0.3498 0.5084 0.3377 0.3554 0.3849 0.3996 0.3758 hom 3745.94 127 8 36767024 . T C 3745.94 Mask AC=2;AF=1.00;AN=2;DP=127;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5769;MQ=59.34;MQ0=0;QD=29.50;VQSLOD=7.9174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3745,319,0 8 37728017 37728017 A G exonic RAB11FIP1 nonsynonymous SNV RAB11FIP1:NM_025151:exon4:c.T1652C:p.M551T,RAB11FIP1:NM_001002814:exon5:c.T3554C:p.M1185T 0.81 0.84 0.78 0.98 0.74 0.69 0.7573 0.8031 0.8343 0.9746 0.7738 0.7213 0.7456 0.6991 0.74 0.79 0.72 0.022 0.75 rs7817179 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.429 N 1.000 0.196 P -2.295 0.001 N 2.43 0.392 T 1.62 0.006 N 0.022 0.084 -0.954 0.403 T 0.000 0.000 T . . . 0.567 0.148 7.923 0.835 0.143 0.185 0.201 N c -0.864 -0.568 1.000 0.747 0.707 0.730 0 5.42 0.786 1.629 0.365 -0.323 0.076 1.000 0.715 0.914 0.390 10.847 0.458 . . . 0.7580 0.8051 0.8334 0.6876 0.9732 0.7732 0.7172 0.7431 0.6933 0.7671 0.7991 0.8222 0.6791 0.9634 0.7813 0.7234 0.7541 hom 2504.25 87 8 37728017 . A G 2504.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.162;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.25;MQ0=0;MQRankSum=-1.284;QD=28.78;ReadPosRankSum=-0.591;VQSLOD=7.5210;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,86:87:99:2537,166,0 8 37728019 37728019 T G exonic RAB11FIP1 synonymous SNV RAB11FIP1:NM_025151:exon4:c.A1650C:p.A550A,RAB11FIP1:NM_001002814:exon5:c.A3552C:p.A1184A 0.8 0.81 0.77 0.98 0.74 0.69 0.7553 0.7768 0.8328 0.9773 0.7742 0.7214 0.7456 0.6998 0.73 0.77 0.72 . 0.74 rs7820872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7563 0.7767 0.8317 0.6876 0.9766 0.7736 0.7173 0.7428 0.6937 0.7594 0.7694 0.8210 0.6791 0.9714 0.7813 0.7238 0.7546 hom 2614.01 82 8 37728019 . T G 2614.01 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.21;MQ0=0;QD=31.88;VQSLOD=9.7532;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2647,205,0 8 37730368 37730368 G A exonic RAB11FIP1 nonsynonymous SNV RAB11FIP1:NM_001002814:exon4:c.C1952T:p.A651V 0.6 0.42 0.64 0.7 0.69 0.61 0.6590 0.4601 0.6302 0.7398 0.7871 0.6855 0.6839 0.6029 0.61 0.48 0.68 0.51 0.7 rs12541651 COSM5904897 1(skin) . . . . . . . . . . . 0.044 0.410 D . . . . . . 0.045 0.235 N 1 0.317 P 1.905 0.510 L 2.46 0.149 T -1.59 0.383 N 0.063 0.048 -1.075 0.084 T 0.000 0.000 T . . . 2.763 0.393 21.2 0.999 0.936 0.147 0.184 N c -0.280 -0.367 1.000 0.747 0.566 0.321 0 4.84 0.620 -0.167 0.098 1.048 0.713 0.000 0.063 0.266 0.231 9.137 0.359 . . . 0.6619 0.4542 0.6248 0.6195 0.7400 0.7896 0.6849 0.6628 0.5991 0.6373 0.4596 0.6304 0.6067 0.7120 0.7935 0.6935 0.6918 hom 5103.53 165 8 37730368 . G A 5103.53 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3281;MQ=59.14;MQ0=0;QD=30.93;VQSLOD=8.0400;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:5103,421,0 8 37985897 37985897 A G exonic ASH2L synonymous SNV ASH2L:NM_001282272:exon10:c.A837G:p.K279K,ASH2L:NM_001105214:exon11:c.A972G:p.K324K,ASH2L:NM_001261832:exon11:c.A972G:p.K324K,ASH2L:NM_004674:exon11:c.A1254G:p.K418K 0.85 0.8 0.85 0.75 0.97 0.88 0.9223 0.7836 0.8608 0.7488 0.9155 0.9819 0.9317 0.9050 0.92 0.78 0.98 0.84 0.99 rs2843740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9215 0.7767 0.8655 0.9721 0.7462 0.9156 0.9852 0.9416 0.9062 0.9027 0.7832 0.8747 0.9868 0.7426 0.9267 0.9807 0.9459 hom 2383.90 73 8 37985897 . A G 2383.90 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.8075;MQ=59.37;MQ0=0;QD=32.66;VQSLOD=7.3799;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2417,190,0 8 38005835 38005835 T C exonic STAR synonymous SNV STAR:NM_000349:exon3:c.A189G:p.L63L 1. 0.98 1. 1. 1. 1. 0.9986 0.9842 0.9997 0.9999 1 1 0.9989 1 1. 0.99 1. 0.98 0.98 rs2229620 COSM4162974 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9843 0.9995 1 1 1 1.0000 0.9996 1 0.9963 0.9871 1 1 1 1 0.9999 1 hom 2883.93 92 8 38005835 . T C 2883.93 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8707;MQ=59.25;MQ0=0;QD=31.35;VQSLOD=7.9815;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:92:99:2917,226,0 8 38095662 38095662 C T exonic DDHD2 nonsynonymous SNV DDHD2:NM_001164232:exon5:c.C557T:p.T186M,DDHD2:NM_001164234:exon5:c.C557T:p.T186M,DDHD2:NM_015214:exon5:c.C557T:p.T186M 0.17 0.023 0.24 0.32 0.25 0.088 0.2003 0.0600 0.2278 0.3161 0.1990 0.2229 0.2095 0.1177 0.17 0.067 0.23 0.17 0.25 rs2306899 COSM3763334 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) other not_specified RCV000116873.3 MedGen CN169374 . . . . . . 0.01 0.564 D 0.863 0.455 P 0.302 0.394 B 0.017 0.279 N 1 0.090 P 1.78 0.463 L 0.79 0.491 T -2.47 0.539 N 0.098 0.263 -0.978 0.356 T 0.000 0.000 T . . . 2.449 0.356 19.14 0.997 0.816 0.188 0.202 N c -0.373 -0.396 1.000 0.462 0.745 0.986 0 5.03 0.669 1.084 0.302 0.931 0.441 0.000 0.063 0.287 0.235 9.795 0.397 . ENSG00000253356.1|ENSG00000085788.9|ENSG00000085788.9|ENSG00000085788.9|ENSG00000085788.9|ENSG00000165046.8|ENSG00000253356.1|ENSG00000085788.9|ENSG00000085788.9|ENSG00000085788.9|ENSG00000085788.9|ENSG00000085788.9|ENSG00000085788.9|ENSG00000085788.9|ENSG00000085788.9|ENSG00000085788.9|ENSG00000156735.6 Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Pancreas|Prostate|Thyroid|Whole_Blood 0.2034 0.0548 0.2294 0.1428 0.3182 0.1953 0.2295 0.2071 0.1142 0.1693 0.0526 0.2231 0.1424 0.3081 0.1870 0.2160 0.1633 het 2606.28 220 8 38095662 . C T 2606.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.264;DP=220;Dels=0.00;FS=4.675;HRun=0;HaplotypeScore=4.7874;MQ=59.75;MQ0=0;MQRankSum=-1.770;QD=11.85;ReadPosRankSum=-0.947;VQSLOD=3.9457;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:119,101:220:99:2636,0,2901 8 38835666 38835666 T C exonic HTRA4 synonymous SNV HTRA4:NM_153692:exon4:c.T966C:p.N322N 0.78 0.68 0.86 0.95 0.8 0.68 0.7870 0.7006 0.8908 0.9510 0.8285 0.7766 0.8072 0.7050 0.74 0.69 0.76 0.77 0.73 rs4733961 COSM5021563 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7904 0.6952 0.8884 0.7483 0.9518 0.8301 0.7734 0.7823 0.6875 0.7681 0.6951 0.8600 0.7483 0.9586 0.8279 0.7701 0.7847 hom 1495.36 51 8 38835666 . T C 1495.36 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.32;VQSLOD=13.6247;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1528,132,0 8 39080632 39080632 C G exonic ADAM32 nonsynonymous SNV ADAM32:NM_001313994:exon11:c.C1103G:p.T368S,ADAM32:NM_145004:exon14:c.C1400G:p.T467S 0.96 0.85 0.99 1. 1. 1. 0.9887 0.8696 0.9943 1 1 0.9997 0.9976 0.9999 0.96 0.88 1. 0.62 . rs7845771 . . . . . . . . . . . . . 0.896 0.024 T 0.0 0.026 B 0.001 0.139 B 0.617 0.108 N 1 0.090 P -0.81 0.015 N 2.84 0.107 T 0.61 0.026 N 0.026 0.030 -0.922 0.453 T 0.000 0.000 T . . . -2.050 0.007 0.001 0.171 0.005 0.001 0.009 N c -1.688 -1.662 0.000 0.012 0.554 0.246 0 -3.45 0.045 -0.810 0.046 -0.315 0.078 0.000 0.063 0.269 0.231 17.742 0.883 Disintegrin domain . . 0.9904 0.8595 0.9934 1 1 1 0.9997 0.9955 0.9997 0.9601 0.8615 0.9892 1 1 1 0.9994 0.9939 hom 882.42 29 8 39080632 . C G 882.42 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.43;VQSLOD=13.7037;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:72.20:915,72,0 8 39496029 39496029 T C exonic ADAM18 synonymous SNV ADAM18:NM_001320313:exon9:c.T801C:p.T267T,ADAM18:NM_014237:exon10:c.T873C:p.T291T 0.59 0.74 0.6 0.25 0.64 0.67 0.6271 0.7444 0.5623 0.2627 0.5916 0.6625 0.6214 0.6590 0.69 0.75 0.67 0.61 0.64 rs12708194 COSM3982539 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6103 0.7343 0.5512 0.6578 0.2558 0.5880 0.6539 0.6146 0.6511 0.6414 0.7379 0.6079 0.6126 0.2409 0.5713 0.6486 0.6111 hom 1843.12 69 8 39496029 . T C 1843.12 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.16;MQ0=0;QD=26.71;VQSLOD=7.7194;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:1876,141,0 8 39840234 39840234 A G exonic IDO2 nonsynonymous SNV IDO2:NM_194294:exon5:c.A418G:p.I140V 0.16 0.023 0.21 0.33 0.1 0.19 0.1603 0.0330 0.2465 0.3812 0.1377 0.1193 0.1698 0.2230 0.075 0.03 0.095 0.23 . rs4736794 COSM3763337;COSM3763338 1(bone);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.041 0.419 D 0.999 0.764 D 0.996 0.832 D 0.000 0.843 D 0.016 0.401 P 1.24 0.311 L 0.99 0.418 T -0.92 0.247 N 0.153 0.215 -0.965 0.383 T 0.000 0.000 T . . . 4.148 0.556 23.8 0.999 0.984 0.966 0.698 D c 0.562 0.581 0.871 0.254 0.554 0.283 0 5.29 0.743 5.105 0.642 1.140 0.893 1.000 0.715 1.000 0.888 11.640 0.503 . . . 0.1399 0.0266 0.2020 0.1091 0.3602 0.1181 0.0957 0.1373 0.1925 0.0994 0.0307 0.2148 0.1457 0.3623 0.1245 0.0957 0.1324 het 598.90 37 8 39840234 . A G 598.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.223;DP=37;Dels=0.00;FS=2.944;HRun=0;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;MQRankSum=2.150;QD=16.19;ReadPosRankSum=-0.046;VQSLOD=4.7283;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,22:37:99:629,0,317 8 39862881 39862881 C T exonic IDO2 nonsynonymous SNV IDO2:NM_194294:exon9:c.C742T:p.R248W 0.42 0.33 0.46 0.29 0.51 0.55 0.4843 0.3533 0.5448 0.2489 0.5553 0.5007 0.5445 0.5476 0.46 0.36 0.51 0.27 . rs10109853 COSM3763339;COSM3763340 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.003 0.438 P 3.78 0.954 H -0.32 0.682 T -7.47 0.949 D 0.369 0.591 -0.914 0.464 T 0.000 0.000 T . . . 8.304 0.958 35 0.999 0.967 0.914 0.532 D c 0.883 0.825 0.014 0.126 0.497 0.185 0 6.03 0.978 3.338 0.516 0.935 0.490 1.000 0.715 1.000 0.888 15.934 0.794 . . . 0.4822 0.3417 0.5202 0.5281 0.2341 0.5607 0.4959 0.4929 0.5340 0.4612 0.3534 0.5012 0.5232 0.2385 0.5527 0.5206 0.4990 het 508.69 54 8 39862881 . C T 508.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.718;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.155;QD=9.42;ReadPosRankSum=1.773;VQSLOD=11.4307;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,21:54:99:539,0,832 8 39872866 39872866 A C exonic IDO2 synonymous SNV IDO2:NM_194294:exon11:c.A1008C:p.S336S 0.97 0.91 1. 1. 1. 1. 0.9935 0.9283 0.9979 1 1 0.9993 0.9978 0.9999 0.98 0.93 1. 0.97 . rs2981161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9946 0.9304 0.9963 0.9941 1 1 0.9995 0.9967 0.9998 0.9812 0.9341 0.9988 0.9967 0.9994 1 0.9997 0.9990 hom 4506.23 137 8 39872866 . A C 4506.23 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=59.25;MQ0=0;QD=32.89;VQSLOD=9.6669;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4506,346,0 8 39872935 39872935 T A exonic IDO2 stopgain IDO2:NM_194294:exon11:c.T1077A:p.Y359X 0.23 0.11 0.32 0.36 0.21 0.21 0.2257 0.1182 0.2781 0.3781 0.2116 0.2132 0.21 0.2307 0.17 0.11 0.21 0.28 . rs4503083 COSM3763342;COSM3763341 1(breast);1(bone);4(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.001 0.390 N 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 9.814 0.964 36 0.994 0.648 0.857 0.446 D c 0.363 0.113 0.000 0.012 0.554 0.283 0 -2.22 0.065 0.108 0.151 -0.692 0.038 0.962 0.335 0.949 0.424 15.055 0.714 . . . 0.2275 0.1213 0.2808 0.1606 0.3788 0.2065 0.2124 0.2172 0.2307 0.1941 0.1237 0.2804 0.1788 0.3629 0.2012 0.2102 0.2026 het 1050.60 83 8 39872935 . T A 1050.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.629;DP=83;Dels=0.00;FS=9.271;HRun=1;HaplotypeScore=0.9979;MQ=59.78;MQ0=0;MQRankSum=-1.364;QD=12.66;ReadPosRankSum=0.242;VQSLOD=4.2520;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,39:83:99:1081,0,1254 8 40011079 40011079 G A exonic C8orf4 nonsynonymous SNV C8orf4:NM_020130:exon1:c.G28A:p.V10I 0.99 0.95 1. 1. 1. 1. 0.9968 0.9646 0.9989 1 1 0.9999 1 0.9999 0.99 0.97 1. 1. 1. rs6474226 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.023 0.016 N 1 0.090 P 0 0.065 N 1.57 0.293 T 0.01 0.069 N 0.02 0.013 -0.910 0.469 T 0.000 0.000 T . . . -1.041 0.030 0.013 0.880 0.171 0.045 0.100 N c -1.772 -1.851 1.0 0.983 0.731 0.878 0 -12.2 0.000 -3.324 0.006 -0.161 0.107 0.000 0.063 0.087 0.184 3.026 0.057 . . . 0.9975 0.9650 0.9982 1 1 1 0.9999 0.9991 0.9999 0.9903 0.9662 0.9988 1 1 1 0.9999 0.9969 hom 3465.31 114 8 40011079 . G A 3465.31 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=59.47;MQ0=0;QD=30.40;VQSLOD=9.3419;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3465,268,0 8 40438757 40438757 T C exonic ZMAT4 nonsynonymous SNV ZMAT4:NM_001135731:exon5:c.A373G:p.T125A,ZMAT4:NM_024645:exon6:c.A601G:p.T201A 0.14 0.069 0.21 0.002 0.31 0.16 0.2283 0.0951 0.2055 0.0015 0.2725 0.2916 0.2830 0.1698 0.23 0.1 0.3 0.16 0.3 rs17851751 COSM1179839 1(bone);1(prostate);1(thyroid) . . . . . . . . . . . 0.91 0.070 T 0.001 0.206 B 0.001 0.223 B 0.031 0.252 N 1 0.263 P 0.895 0.225 L 2.01 0.411 T -0.53 0.281 N 0.047 0.274 -0.978 0.355 T 0.000 0.000 T . . . 1.520 0.245 13.42 0.981 0.375 0.753 0.366 D c -0.258 -0.068 0.002 0.095 0.693 0.558 0 4.49 0.540 2.687 0.464 1.061 0.807 1.000 0.715 1.000 0.888 9.549 0.383 Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like|Zinc finger\x2c U1-type . . 0.2307 0.0934 0.1999 0.2608 0.0010 0.2715 0.2986 0.2651 0.1706 0.2194 0.0922 0.2053 0.2980 0.0006 0.2777 0.3005 0.2546 het 1592.18 138 8 40438757 . T C 1592.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.677;DP=138;Dels=0.00;FS=1.369;HRun=0;HaplotypeScore=0.9958;MQ=57.90;MQ0=0;MQRankSum=-1.895;QD=11.54;ReadPosRankSum=-0.656;VQSLOD=4.0992;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,61:138:99:1622,0,1872 8 41553928 41553928 C G exonic ANK1 synonymous SNV ANK1:NM_000037:exon26:c.G2913C:p.L971L,ANK1:NM_020475:exon26:c.G2913C:p.L971L,ANK1:NM_020476:exon26:c.G2913C:p.L971L,ANK1:NM_020477:exon26:c.G2913C:p.L971L,ANK1:NM_001142446:exon27:c.G3036C:p.L1012L 0.41 0.11 0.55 0.51 0.49 0.52 0.4767 0.1444 0.6169 0.5403 0.5803 0.4762 0.4821 0.5073 0.36 0.15 0.47 0.36 0.32 rs504574 COSM454570;COSM1457091 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Likely benign not_specified|Spherocytosis\x2c_Dominant RCV000253390.1|RCV000325288.1 MedGen|MedGen CN169374|CN239455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4863 0.1378 0.6044 0.4445 0.5399 0.5613 0.4723 0.4879 0.5083 0.3998 0.1422 0.5685 0.4106 0.5025 0.5598 0.4856 0.4990 het 1102.82 94 8 41553928 . C G 1102.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.460;DP=94;Dels=0.00;FS=1.695;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=0.121;QD=11.73;ReadPosRankSum=1.293;VQSLOD=6.1015;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,47:94:99:1133,0,1220 8 41559609 41559609 G A exonic ANK1 synonymous SNV ANK1:NM_000037:exon21:c.C2349T:p.T783T,ANK1:NM_001142446:exon21:c.C2448T:p.T816T,ANK1:NM_020475:exon21:c.C2349T:p.T783T,ANK1:NM_020476:exon21:c.C2349T:p.T783T,ANK1:NM_020477:exon21:c.C2349T:p.T783T 0.18 0.016 0.3 0.079 0.28 0.32 0.2541 0.0495 0.3017 0.0652 0.3588 0.2758 0.2561 0.3189 0.2 0.057 0.27 0.11 0.2 rs2304880 . . Benign|Likely benign not_specified|Spherocytosis\x2c_Dominant RCV000245902.1|RCV000372620.1 MedGen|MedGen CN169374|CN239455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2608 0.0480 0.2986 0.3219 0.0673 0.3494 0.2693 0.2662 0.3187 0.2128 0.0515 0.2816 0.2781 0.0561 0.3436 0.2833 0.2885 het 1852.32 131 8 41559609 . G A 1852.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.446;DP=131;Dels=0.00;FS=1.423;HRun=0;HaplotypeScore=5.5107;MQ=58.88;MQ0=0;MQRankSum=1.890;QD=14.14;ReadPosRankSum=-1.172;VQSLOD=4.7814;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,66:131:99:1882,0,1609 8 41563685 41563685 G A exonic ANK1 synonymous SNV ANK1:NM_000037:exon18:c.C2073T:p.G691G,ANK1:NM_001142446:exon18:c.C2172T:p.G724G,ANK1:NM_020475:exon18:c.C2073T:p.G691G,ANK1:NM_020476:exon18:c.C2073T:p.G691G,ANK1:NM_020477:exon18:c.C2073T:p.G691G 0.18 0.016 0.3 0.079 0.28 0.32 0.2538 0.0495 0.2986 0.0657 0.3587 0.2756 0.2572 0.3195 0.2 0.057 0.27 0.11 0.18 rs1137177 COSM4163000;COSM4163001 2(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Likely benign not_specified|Spherocytosis\x2c_Dominant RCV000248946.1|RCV000393967.1 MedGen|MedGen CN169374|CN239455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2607 0.0481 0.2966 0.3222 0.0672 0.3498 0.2692 0.2673 0.3195 0.2123 0.0512 0.2804 0.2781 0.0561 0.3439 0.2823 0.2878 het 2112.55 171 8 41563685 . G A 2112.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.191;DP=171;Dels=0.00;FS=1.261;HRun=0;HaplotypeScore=5.3924;MQ=59.76;MQ0=0;MQRankSum=-0.242;QD=12.35;ReadPosRankSum=-0.096;VQSLOD=5.1863;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,93:171:99:2143,0,1789 8 41791283 41791283 G A exonic KAT6A synonymous SNV KAT6A:NM_006766:exon17:c.C4455T:p.S1485S 0.16 0.095 0.18 0.23 0.072 0.26 0.1209 0.0988 0.1717 0.2336 0.1228 0.0781 0.1399 0.2111 0.083 0.1 0.074 0.13 0.074 rs3739365 COSM3763347 1(haematopoietic_and_lymphoid_tissue);8(soft_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1229 0.1001 0.1693 0.1047 0.2271 0.1217 0.0742 0.1129 0.2106 0.0989 0.1013 0.1675 0.0894 0.2264 0.1198 0.0735 0.1265 het 2084.10 143 8 41791283 . G A 2084.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.580;DP=143;Dels=0.00;FS=0.638;HRun=0;HaplotypeScore=2.8830;MQ=58.76;MQ0=0;MQRankSum=-1.052;QD=14.57;ReadPosRankSum=0.419;VQSLOD=5.8068;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,75:143:99:2114,0,1877 8 41798417 41798417 C T exonic KAT6A synonymous SNV KAT6A:NM_006766:exon15:c.G2982A:p.P994P 0.16 0.1 0.19 0.23 0.072 0.26 0.1216 0.1018 0.1719 0.2356 0.1226 0.0783 0.1460 0.2123 . . . 0.15 0.074 rs3824275 COSM3763348 1(haematopoietic_and_lymphoid_tissue);8(soft_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1234 0.1023 0.1692 0.1046 0.2283 0.1216 0.0744 0.1129 0.2115 0.0996 0.1040 0.1663 0.0894 0.2262 0.1191 0.0735 0.1273 het 2879.08 216 8 41798417 . C T 2879.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.005;DP=216;DS;Dels=0.00;FS=6.146;HRun=0;HaplotypeScore=8.2659;MQ=58.94;MQ0=0;MQRankSum=1.071;QD=13.33;ReadPosRankSum=0.526;VQSLOD=3.7662;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:109,107:216:99:2909,0,2925 8 41906095 41906095 A G exonic KAT6A nonsynonymous SNV KAT6A:NM_001305878:exon2:c.T401C:p.L134S,KAT6A:NM_006766:exon2:c.T401C:p.L134S 0.16 0.1 0.19 0.23 0.072 0.26 0.1216 0.1016 0.1720 0.2352 0.1225 0.0784 0.1468 0.2119 0.083 0.1 0.074 0.15 0.074 rs3824276 COSM3736469 8(soft_tissue);1(skin);2(large_intestine) . . . . . . . . . . . 0.106 0.296 T 0.014 0.156 B 0.005 0.104 B 0.199 0.166 N 0.997 0.229 P 0.55 0.145 N 0.27 0.836 T -1.19 0.307 N 0.146 0.174 -1.121 0.023 T 0.000 0.000 T . . . 0.716 0.162 8.934 0.943 0.240 0.845 0.433 D c -0.690 -0.458 1.000 0.747 0.737 0.974 0 3.39 0.378 1.733 0.375 -0.119 0.114 1.000 0.715 0.839 0.350 8.028 0.294 Linker histone H1/H5\x2c domain H15|Winged helix-turn-helix DNA-binding domain . . 0.1235 0.1023 0.1695 0.1074 0.2283 0.1215 0.0745 0.1134 0.2112 0.0995 0.1032 0.1671 0.0927 0.2255 0.1194 0.0736 0.1276 het 1019.37 73 8 41906095 . A G 1019.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.456;DP=73;Dels=0.00;FS=3.943;HRun=0;HaplotypeScore=1.5774;MQ=60.00;MQ0=0;MQRankSum=0.359;QD=13.96;ReadPosRankSum=0.436;VQSLOD=6.3518;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,37:73:99:1049,0,984 8 42044954 42044954 G A exonic PLAT synonymous SNV PLAT:NM_033011:exon5:c.C363T:p.D121D,PLAT:NM_000930:exon6:c.C501T:p.D167D 0.51 0.35 0.57 0.5 0.59 0.62 0.5507 0.3875 0.5909 0.5297 0.5785 0.5619 0.5634 0.5789 0.51 0.4 0.56 0.46 0.58 rs1058720 COSM3763350 1(oesophagus);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5496 0.3871 0.5797 0.4977 0.5213 0.5789 0.5648 0.5462 0.5612 0.5188 0.3949 0.5694 0.5033 0.5161 0.5959 0.5682 0.5582 het 1317.67 80 8 42044954 . G A 1317.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.620;DP=80;Dels=0.00;FS=3.093;HRun=0;HaplotypeScore=1.7297;MQ=58.53;MQ0=0;MQRankSum=-1.230;QD=16.47;ReadPosRankSum=0.417;VQSLOD=4.6940;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,48:80:99:1348,0,722 8 43054553 43054553 T C exonic HGSNAT synonymous SNV HGSNAT:NM_152419:exon18:c.T1749C:p.Y583Y 0.99 0.97 1. 1. 1. 1. 0.9974 0.9715 0.9983 1 1 0.9999 0.9987 0.9999 0.99 0.97 1. 0.99 . rs1126058 . . Benign|Benign not_specified|Sanfilippo_syndrome RCV000082655.5|RCV000407246.1 MedGen|MedGen:SNOMED_CT CN169374|C0026706:88393000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9979 0.9717 0.9981 1 1 1 0.9998 0.9985 0.9998 0.9911 0.9688 0.9988 1 1 1 1 0.9990 hom 1226.49 39 8 43054553 . T C 1226.49 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=31.45;VQSLOD=9.2642;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1259,105,0 8 48805816 48805816 - G exonic PRKDC unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 0.9999 0.9999 1 1 1.0000 1 1 1. 1. 1. 0.14 . rs397814002 COSM5022161;COSM5022162 1(bone);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 0.9999 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 1104.15 27 8 48805816 . A AG 1104.15 Mask AC=2;AF=1.00;AN=2;DP=27;FS=0.000;HRun=1;HaplotypeScore=52.5045;MQ=58.67;MQ0=0;QD=40.89;set=variant2 GT:AD:DP:GQ:PL 1/1:0,27:27:78.26:1146,78,0 8 48885436 48885436 T A exonic MCM4 nonsynonymous SNV MCM4:NM_005914:exon13:c.T1948A:p.L650M,MCM4:NM_182746:exon14:c.T1948A:p.L650M 0.91 0.94 0.92 1. 0.84 0.85 0.8669 0.9265 0.9284 0.9992 0.8388 0.8374 0.8477 0.8482 0.87 0.92 0.85 0.98 0.87 rs762679 . . Benign|Benign Natural_killer_cell_and_glucocorticoid_deficiency_with_DNA_repair_defect|not_specified RCV000306312.1|RCV000455613.1 Gene:MedGen:OMIM:Orphanet|MedGen 780917:C1864947:609981:ORPHA75391|CN169374 . . . . . . 1.0 0.010 T 0.002 0.090 B 0.011 0.145 B 0.000 0.843 N 1.000 0.199 P 0.04 0.081 N 2.56 0.137 T 0.95 0.015 N 0.159 0.333 -0.942 0.423 T 0.000 0.000 T . . . 1.663 0.261 14.20 0.368 0.024 0.154 0.187 N c -0.471 -0.221 1.000 0.747 0.707 0.730 0 5.32 0.753 7.092 0.764 0.242 0.267 1.000 0.715 1.000 0.888 10.738 0.451 AAA+ ATPase domain|MCM domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12|ENSG00000104738.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.8707 0.9246 0.9302 0.8279 0.9992 0.8357 0.8427 0.8476 0.8514 0.8783 0.9223 0.9308 0.8444 0.9994 0.8306 0.8494 0.8635 hom 2730.73 86 8 48885436 . T A 2730.73 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.41;MQ0=0;QD=31.75;VQSLOD=8.5770;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2764,220,0 8 51571172 51571172 G A exonic SNTG1 synonymous SNV SNTG1:NM_001287814:exon14:c.G987A:p.T329T,SNTG1:NM_001321773:exon14:c.G987A:p.T329T,SNTG1:NM_001321777:exon14:c.G987A:p.T329T,SNTG1:NM_001321776:exon15:c.G987A:p.T329T,SNTG1:NM_001321778:exon15:c.G987A:p.T329T,SNTG1:NM_018967:exon15:c.G987A:p.T329T,SNTG1:NM_001287813:exon16:c.G987A:p.T329T,SNTG1:NM_001321775:exon16:c.G987A:p.T329T 0.51 0.23 0.62 0.68 0.69 0.44 0.6076 0.2893 0.5572 0.6579 0.7135 0.6824 0.6236 0.4717 0.55 0.31 0.68 0.43 0.62 rs1911830 COSM3763354;COSM3763355 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6129 0.2774 0.5600 0.6444 0.6562 0.7140 0.6822 0.6274 0.4746 0.5649 0.2813 0.5586 0.6767 0.6633 0.7160 0.6769 0.6436 het 1077.72 102 8 51571172 . G A 1077.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.692;DP=102;Dels=0.00;FS=3.829;HRun=1;HaplotypeScore=2.6777;MQ=59.63;MQ0=0;MQRankSum=-0.208;QD=10.57;ReadPosRankSum=-0.624;VQSLOD=6.0392;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,47:102:99:1108,0,1210 8 52321243 52321243 T C exonic PXDNL nonsynonymous SNV PXDNL:NM_144651:exon17:c.A2941G:p.M981V 0.83 0.74 0.86 0.93 0.85 0.82 0.8304 0.7527 0.8454 0.9269 0.8386 0.8312 0.8104 0.8131 0.81 0.77 0.83 0.84 . rs2977020 COSM4163007;COSM4163008 1(thyroid) Benign not_specified RCV000454594.1 MedGen CN169374 . . . . . . 0.423 0.097 T 0.0 0.026 B 0.0 0.013 B 0.811 0.092 N 1 0.090 P -1.655 0.004 N -0.1 0.643 T 1.97 0.004 N 0.017 0.185 -0.992 0.320 T 0.000 0.000 T . . . -1.758 0.012 0.002 0.373 0.024 0.059 0.117 N c -1.767 -1.698 0.028 0.138 0.581 0.326 0 -2.82 0.054 0.060 0.141 -0.896 0.027 0.688 0.283 0.001 0.043 5.778 0.174 . . . 0.8342 0.7538 0.8595 0.8046 0.9317 0.8375 0.8307 0.8261 0.8110 0.8208 0.7575 0.8652 0.8255 0.9438 0.8389 0.8371 0.8286 hom 897.51 25 8 52321243 . T C 897.51 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.90;VQSLOD=14.1742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:75.23:931,75,0 8 52366200 52366200 G A exonic PXDNL synonymous SNV PXDNL:NM_144651:exon10:c.C1128T:p.H376H 0.75 0.48 0.92 0.69 0.93 0.85 0.8745 0.5526 0.9285 0.6883 0.9241 0.9350 0.8933 0.8595 0.83 0.59 0.94 0.7 . rs6473599 . . Benign not_specified RCV000455018.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8820 0.5449 0.9299 0.9142 0.6904 0.9243 0.9384 0.8916 0.8570 0.8153 0.5510 0.8998 0.9437 0.6873 0.9204 0.9446 0.9073 hom 3019.27 92 8 52366200 . G A 3019.27 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.74;MQ0=0;QD=32.82;VQSLOD=8.5611;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:92:99:3052,250,0 8 52746153 52746153 C T exonic PCMTD1 synonymous SNV PCMTD1:NM_001286782:exon2:c.G279A:p.V93V,PCMTD1:NM_052937:exon4:c.G507A:p.V169V 0.45 0.051 0.63 0.48 0.63 0.63 0.5948 0.1399 0.6566 0.5002 0.5886 0.6661 0.5850 0.6018 0.5 0.16 0.68 0.33 0.66 rs9298462 COSM5008462;COSM3982550 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6046 0.1299 0.6511 0.6393 0.5037 0.5917 0.6708 0.6104 0.6050 0.4984 0.1374 0.6631 0.6854 0.5025 0.5790 0.6700 0.5992 het 2308.62 162 8 52746153 . C T 2308.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.089;DP=162;Dels=0.00;FS=2.869;HRun=0;HaplotypeScore=4.6835;MQ=59.54;MQ0=0;MQRankSum=1.550;QD=14.25;ReadPosRankSum=-0.867;VQSLOD=5.1622;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,92:162:99:2339,0,1844 8 53586706 53586706 A G exonic RB1CC1 nonsynonymous SNV RB1CC1:NM_001083617:exon7:c.T701C:p.M234T,RB1CC1:NM_014781:exon7:c.T701C:p.M234T 0.5 0.21 0.61 0.84 0.5 0.48 0.5110 0.2511 0.6786 0.8329 0.4882 0.4876 0.5099 0.4922 0.41 0.25 0.49 0.48 0.47 rs17337252 COSM3763359 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.575 0.061 T 0.0 0.026 B 0.0 0.013 B 0.310 0.144 N 0.963 0.260 P -0.145 0.044 N 2.63 0.129 T -0.15 0.093 N 0.047 0.157 -1.034 0.191 T 0.000 0.000 T . . . 0.342 0.127 6.091 0.863 0.159 0.603 0.309 D c -0.719 -0.515 0.674 0.224 0.707 0.730 0 2.99 0.335 2.322 0.432 1.140 0.893 0.470 0.265 0.985 0.512 3.679 0.078 . . . 0.5220 0.2477 0.6649 0.3936 0.8398 0.4953 0.4939 0.5146 0.4882 0.4460 0.2457 0.6077 0.4404 0.8307 0.4948 0.4986 0.4755 het 2949.05 226 8 53586706 . A G 2949.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.236;DP=226;DS;Dels=0.00;FS=5.538;HRun=0;HaplotypeScore=7.7623;MQ=58.93;MQ0=0;MQRankSum=3.112;QD=13.05;ReadPosRankSum=1.900;VQSLOD=2.9842;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,112:226:99:2979,0,3088 8 53852871 53852871 A T exonic NPBWR1 nonsynonymous SNV NPBWR1:NM_005285:exon1:c.A404T:p.Y135F 0.087 0.0038 0.085 0.12 0.13 0.12 0.1146 0.0275 0.0999 0.1436 0.1181 0.1236 0.1134 0.1227 0.088 0.03 0.12 0.022 0.2 rs33977775 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D 0.000 0.491 D 0.000 0.484 P 2.69 0.790 M -2.2 0.869 D -3.9 0.729 D 0.243 0.297 -0.710 0.600 T 0.039 0.170 T . . . 6.047 0.832 28.0 0.987 0.450 0.960 0.671 D c 0.777 0.732 1.000 0.747 0.447 0.083 0 5.06 0.677 7.093 0.764 1.199 0.960 1.000 0.715 1.000 0.888 14.971 0.708 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1141 0.0252 0.1036 0.1267 0.1362 0.1132 0.1229 0.1142 0.1209 0.0940 0.0243 0.0967 0.13 0.1460 0.1108 0.1226 0.1181 het 1123.98 85 8 53852871 . A T 1123.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.322;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.18;MQ0=0;MQRankSum=0.005;QD=13.22;ReadPosRankSum=-0.565;VQSLOD=6.3907;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,46:85:99:1154,0,869 8 55539395 55539395 A T exonic RP1 nonsynonymous SNV RP1:NM_006269:exon4:c.A2953T:p.N985Y 0.25 0.2 0.25 0.068 0.43 0.33 0.3475 0.2163 0.1924 0.0621 0.4126 0.4241 0.3899 0.3497 0.35 0.21 0.42 0.26 0.37 rs2293869 COSM3763361 7(soft_tissue);1(large_intestine) Benign|other|Likely benign Hypertriglyceridemia\x2c_susceptibility_to|not_specified|Retinitis_Pigmentosa\x2c_Dominant RCV000006333.3|RCV000081369.5|RCV000337903.1 MedGen|MedGen CN169374|CN239354 . . . . . . 0.0 0.912 D 0.981 0.577 D 0.819 0.572 P 0.038 0.243 N 1 0.090 P 1.79 0.469 L 0.46 0.563 T -3.43 0.673 D 0.251 0.306 -0.963 0.387 T 0.000 0.000 T . . . 2.885 0.407 21.8 0.986 0.436 0.185 0.201 N c -0.160 -0.360 0.032 0.140 0.497 0.185 0 1.94 0.249 1.799 0.382 1.088 0.866 0.102 0.226 0.135 0.201 5.951 0.184 . . . 0.3450 0.2140 0.1987 0.5299 0.0614 0.4114 0.4183 0.3900 0.3484 0.3281 0.2197 0.1998 0.54 0.0575 0.4066 0.4024 0.3671 het 2039.37 162 8 55539395 . A T 2039.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.380;DP=162;Dels=0.00;FS=11.532;HRun=1;HaplotypeScore=1.9945;MQ=59.06;MQ0=0;MQRankSum=-0.700;QD=12.51;ReadPosRankSum=-0.932;VQSLOD=3.6465;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,73:162:99:2069,0,2232 8 55542540 55542540 G A exonic RP1 nonsynonymous SNV RP1:NM_006269:exon4:c.G6098A:p.C2033Y 0.22 0.07 0.24 0.068 0.43 0.33 0.3381 0.1121 0.1873 0.0621 0.4122 0.4241 0.3866 0.3494 0.31 0.12 0.42 0.21 0.37 rs61739567 COSM3763362 1(haematopoietic_and_lymphoid_tissue);7(soft_tissue);1(thyroid);1(large_intestine) other|Likely benign not_specified|Retinitis_Pigmentosa\x2c_Dominant RCV000081376.5|RCV000358335.1 MedGen|MedGen CN169374|CN239354 . . . . . . 0.811 0.030 T 0.002 0.090 B 0.001 0.040 B 0.206 0.165 N 1 0.090 P 1.555 0.395 L 2.18 0.189 T -0.29 0.117 N 0.15 0.178 -0.920 0.456 T 0.000 0.000 T . . . -2.338 0.004 0.001 0.147 0.003 0.135 0.177 N c -1.045 -1.021 0.337 0.195 0.428 0.059 0 0.404 0.155 -0.000 0.128 0.045 0.158 0.289 0.250 0.063 0.172 0.701 0.008 . . . 0.3373 0.1092 0.1916 0.5298 0.0614 0.4115 0.4181 0.3847 0.3480 0.2986 0.1167 0.1957 0.5397 0.0570 0.4068 0.4018 0.3671 het 716.16 85 8 55542540 . G A 716.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.633;DP=85;Dels=0.00;FS=0.825;HRun=0;HaplotypeScore=1.8100;MQ=58.51;MQ0=0;MQRankSum=-0.570;QD=8.43;ReadPosRankSum=0.283;VQSLOD=5.3436;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,34:85:99:746,0,1281 8 56686224 56686224 T C exonic TGS1 nonsynonymous SNV TGS1:NM_024831:exon1:c.T47C:p.I16T 0.86 0.74 0.88 0.99 0.89 0.85 0.8710 0.7556 0.8558 0.9921 0.8543 0.8864 0.8554 0.8359 0.85 0.76 0.89 0.94 0.91 rs1818 . . . . . . . . . . . . . 0.092 0.316 T 0.09 0.236 B 0.036 0.216 B 0.638 0.058 N 1 0.090 P 1.24 0.311 L 2.88 0.103 T -0.4 0.138 N 0.082 0.182 -0.921 0.454 T 0.000 0.000 T . . . 0.398 0.132 6.593 0.950 0.255 0.105 0.158 N c -0.666 -0.679 1.000 0.747 0.442 0.072 0 3.81 0.429 1.959 0.398 1.061 0.807 0.008 0.178 0.104 0.190 7.739 0.278 . ENSG00000167904.10|ENSG00000137574.6|ENSG00000167904.10|ENSG00000137574.6|ENSG00000137574.6|ENSG00000137574.6|ENSG00000137574.6|ENSG00000137574.6|ENSG00000137574.6|ENSG00000137574.6|ENSG00000137574.6|ENSG00000137574.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8723 0.7560 0.8601 0.8749 0.9916 0.8551 0.8871 0.8714 0.8337 0.8413 0.7562 0.8819 0.8709 0.9871 0.8529 0.8677 0.8686 hom 1713.14 61 8 56686224 . T C 1713.14 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.1010;MQ=59.01;MQ0=0;QD=28.08;VQSLOD=8.5149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1746,132,0 8 59329438 59329438 A G exonic UBXN2B synonymous SNV UBXN2B:NM_001077619:exon2:c.A114G:p.E38E,UBXN2B:NM_001330535:exon2:c.A114G:p.E38E 0.26 0.14 0.51 0.24 0.29 0.23 0.2937 0.1781 0.6223 0.2616 0.2814 0.2805 0.2584 0.2089 0.26 0.18 0.29 0.2 0.2 rs13277646 COSM3763363 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3056 0.1762 0.5995 0.1843 0.2579 0.2865 0.2854 0.2915 0.2058 0.2562 0.1795 0.5192 0.2119 0.2323 0.2979 0.2780 0.2854 het 895.35 77 8 59329438 . A G 895.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.686;DP=77;Dels=0.00;FS=1.868;HRun=1;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=0.494;QD=11.63;ReadPosRankSum=-0.698;VQSLOD=6.7041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,38:77:99:925,0,941 8 59512334 59512334 G A exonic NSMAF synonymous SNV NSMAF:NM_001144772:exon18:c.C1521T:p.D507D,NSMAF:NM_003580:exon18:c.C1428T:p.D476D 0.93 0.86 0.94 0.98 0.93 0.97 0.9309 0.8705 0.9541 0.9709 0.9270 0.9235 0.9295 0.9630 0.91 0.88 0.93 0.89 0.52 rs2680903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9343 0.8691 0.9563 0.9030 0.9745 0.9344 0.9270 0.9146 0.9599 0.9158 0.8797 0.9545 0.9106 0.9686 0.9372 0.9231 0.9297 hom 2397.75 84 8 59512334 . G A 2397.75 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8730;MQ=58.70;MQ0=0;QD=28.54;VQSLOD=8.3171;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2431,187,0 8 61178574 61178574 T C exonic CA8 synonymous SNV CA8:NM_001321837:exon3:c.A327G:p.E109E,CA8:NM_001321838:exon3:c.A327G:p.E109E,CA8:NM_001321839:exon3:c.A327G:p.E109E,CA8:NM_004056:exon3:c.A327G:p.E109E 0.5 0.85 0.4 0.27 0.42 0.43 0.4279 0.7665 0.3106 0.2567 0.4221 0.4164 0.4159 0.4354 0.53 0.76 0.41 0.61 0.36 rs7464181 COSM3763364 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign not_specified RCV000116510.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4177 0.7770 0.3203 0.4703 0.2613 0.4233 0.4131 0.4079 0.4306 0.5015 0.7677 0.3505 0.45 0.2871 0.4115 0.4048 0.4348 hom 1710.04 54 8 61178574 . T C 1710.04 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=31.67;VQSLOD=9.1209;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1743,135,0 8 63659610 63659610 G A exonic NKAIN3 synonymous SNV NKAIN3:NM_001304533:exon4:c.G393A:p.T131T 0.43 0.19 0.58 0.31 0.64 0.55 0.5742 0.2400 0.6209 0.2953 0.5852 0.6573 0.5857 0.5448 0.54 0.28 0.67 0.39 . rs1319275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5795 0.2344 0.6153 0.6081 0.3001 0.5796 0.6658 0.6079 0.5418 0.5086 0.2364 0.5861 0.5705 0.3069 0.5782 0.6609 0.5990 hom 3273.99 103 8 63659610 . G A 3273.99 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6637;MQ=59.55;MQ0=0;QD=31.79;VQSLOD=9.1532;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3274,262,0 8 64098729 64098729 - G exonic YTHDF3 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. 1. . rs58419856 COSM4603454 23(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 4631.35 100 8 64098729 . A AG 4631.35 Mask AC=2;AF=1.00;AN=2;DP=100;FS=0.000;HRun=0;HaplotypeScore=197.1804;MQ=59.93;MQ0=0;QD=46.31;set=variant2 GT:AD:DP:GQ:PL 1/1:1,99:100:99:4631,292,0 8 65493429 65493429 T G exonic BHLHE22 nonsynonymous SNV BHLHE22:NM_152414:exon1:c.T82G:p.S28A 0.53 0.77 0.45 0.55 0.33 0.44 0.4174 0.7092 0.4909 0.5757 0.4115 0.3243 0.3846 0.4665 0.39 0.65 0.25 . 0.09 rs7016250 COSM3750132 1(thyroid);5(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.362 N 1.000 0.205 P -0.345 0.033 N -3.45 0.945 D 0.38 0.036 N 0.022 0.005 -0.944 0.420 T 0.000 0.000 T . . . -0.710 0.044 0.068 0.753 0.106 0.047 0.102 N c -0.904 -0.730 1.000 0.747 0.598 0.340 0 2.5 0.292 0.919 0.281 0.050 0.161 0.647 0.279 0.994 0.587 7.316 0.255 . . . 0.3255 0.6673 0.4252 0.2404 0.5159 0.3130 0.2382 0.3082 0.4097 0.4363 0.7100 0.4162 0.2448 0.5524 0.3628 0.2915 0.3553 het 184.59 21 8 65493429 . T G 184.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.209;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.109;QD=8.79;ReadPosRankSum=0.036;VQSLOD=11.0286;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,8:21:99:215,0,337 8 66525548 66525548 T C exonic ARMC1 synonymous SNV ARMC1:NM_018120:exon4:c.A396G:p.Q132Q 0.26 0.088 0.32 0.38 0.3 0.26 0.2921 0.1131 0.3359 0.4191 0.2477 0.3046 0.3013 0.2742 0.25 0.12 0.31 0.26 0.32 rs11559265 COSM3763375 1(breast);1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2990 0.1097 0.3424 0.3290 0.4147 0.2559 0.3074 0.2981 0.2727 0.2444 0.1103 0.3433 0.2748 0.4195 0.2610 0.2907 0.2889 het 2283.01 153 8 66525548 . T C 2283.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.806;DP=153;Dels=0.00;FS=4.890;HRun=0;HaplotypeScore=4.1523;MQ=59.21;MQ0=0;MQRankSum=0.767;QD=14.92;ReadPosRankSum=-2.519;VQSLOD=3.4421;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,82:153:99:2313,0,1864 8 67592152 67592152 T C exonic C8orf44 nonsynonymous SNV C8orf44:NM_019607:exon3:c.T443C:p.F148S 0.22 0.051 0.23 0.24 0.29 0.34 0.2655 0.0856 0.2085 0.2234 0.2225 0.2951 0.2931 0.3338 0.23 0.091 0.29 0.2 0.25 rs1057463 COSM3982563 3(haematopoietic_and_lymphoid_tissue);1(pancreas);1(oesophagus);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.393 0.107 T 0.713 0.402 P 0.522 0.465 P . . . 1 0.090 P 0 0.065 N 1.12 0.387 T -0.36 0.131 N 0.196 0.328 -0.998 0.304 T 0.000 0.000 T . . . 3.743 0.507 23.3 0.994 0.606 0.036 0.087 N c -0.645 -0.724 1.000 0.747 0.615 0.372 0 2.84 0.321 1.309 0.329 0.993 0.603 0.004 0.165 0.025 0.141 6.239 0.199 . . . 0.2603 0.0789 0.2068 0.2541 0.2137 0.2238 0.2965 0.2535 0.3331 0.2221 0.0846 0.2363 0.2219 0.1859 0.2259 0.3005 0.2811 het 462.51 28 8 67592152 . T C 462.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.524;DP=28;Dels=0.00;FS=4.265;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=0.408;QD=16.52;ReadPosRankSum=-0.599;VQSLOD=5.9210;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,18:28:99:493,0,286 8 67796120 67796120 C G exonic MCMDC2 nonsynonymous SNV MCMDC2:NM_001136160:exon9:c.C964G:p.L322V,MCMDC2:NM_001136161:exon9:c.C964G:p.L322V,MCMDC2:NM_173518:exon9:c.C964G:p.L322V 0.022 0.0045 0.026 0.001 0.079 0.0072 0.0495 0.0130 0.0278 0.0001 0.0717 0.0723 0.0486 0.0128 0.057 0.019 0.076 0.011 0.11 rs17332410 . . . . . . . . . . . . . 0.047 0.912 D 0.946 0.514 P 0.705 0.525 P 0.000 0.559 D 0.999 0.453 D 2.19 0.618 M 1.12 0.387 T -1.38 0.539 N 0.169 0.592 -1.152 0.010 T 0.011 0.043 T . . . 4.224 0.566 23.9 0.999 0.940 0.821 0.411 D c 0.353 0.384 0.044 0.146 0.554 0.246 0 4.68 0.582 1.173 0.313 0.935 0.490 0.879 0.307 1.000 0.888 11.620 0.502 . . . 0.0508 0.0116 0.0290 0.1027 5.798e-05 0.0692 0.0719 0.0641 0.0134 0.0502 0.0133 0.0263 0.1126 0.0006 0.0741 0.0708 0.0601 het 1179.79 76 8 67796120 . C G 1179.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.659;DP=76;Dels=0.00;FS=0.874;HRun=1;HaplotypeScore=2.6812;MQ=59.75;MQ0=0;MQRankSum=-0.204;QD=15.52;ReadPosRankSum=0.413;VQSLOD=5.6456;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,42:76:99:1210,0,872 8 68536470 68536470 A G exonic CPA6 nonsynonymous SNV CPA6:NM_020361:exon2:c.T133C:p.F45L 0.23 0.34 0.24 0.092 0.22 0.23 0.2360 0.3319 0.2361 0.1219 0.2248 0.2328 0.23 0.2530 0.26 0.32 0.24 0.34 0.2 rs10957393 COSM3982567;COSM1179840 2(haematopoietic_and_lymphoid_tissue);1(prostate) other|Likely benign not_specified|Temporal_epilepsy\x2c_familial RCV000116825.3|RCV000273999.1 MedGen|Gene:MedGen:OMIM:Orphanet CN169374|619399:C1842564:608096:ORPHA98819 . . . . . . 0.312 0.139 T 0.0 0.026 B 0.0 0.013 B 0.012 0.295 N 0.995 0.588 P -1.245 0.008 N 1.29 0.358 T 1.44 0.009 N 0.021 0.013 -0.962 0.388 T 0.000 0.000 T . . . 2.657 0.380 20.5 0.982 0.390 0.022 0.063 N c -0.539 -0.284 0.030 0.139 0.487 0.133 0 4.54 0.551 3.050 0.493 0.084 0.191 1.000 0.715 0.994 0.587 9.706 0.392 Proteinase inhibitor\x2c carboxypeptidase propeptide|Proteinase inhibitor\x2c propeptide . . 0.2291 0.3289 0.2235 0.2147 0.1160 0.2190 0.2334 0.2237 0.2466 0.2503 0.3254 0.2309 0.2252 0.1173 0.2050 0.2346 0.2295 het 1308.38 128 8 68536470 . A G 1308.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.654;DP=128;Dels=0.00;FS=2.361;HRun=0;HaplotypeScore=5.6046;MQ=59.42;MQ0=0;MQRankSum=0.606;QD=10.22;ReadPosRankSum=0.306;VQSLOD=5.1078;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,54:128:99:1338,0,1833 8 68864728 68864728 G A exonic PREX2 synonymous SNV PREX2:NM_024870:exon1:c.G99A:p.K33K,PREX2:NM_025170:exon1:c.G99A:p.K33K 0.31 0.05 0.37 0.52 0.31 0.42 0.3599 0.1189 0.4177 0.5537 0.3379 0.3423 0.3097 0.4127 0.23 0.093 0.3 0.2 0.16 rs61753697 COSM454779;COSM454778 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3132 0.0829 0.3674 0.2287 0.5174 0.2556 0.2967 0.2907 0.3802 0.2492 0.0878 0.3807 0.21 0.5043 0.2705 0.3010 0.2949 het 335.46 21 8 68864728 . G A 335.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.272;DP=21;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=1.674;QD=15.97;ReadPosRankSum=1.129;VQSLOD=6.3484;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,15:21:99:365,0,124 8 68968166 68968166 C A exonic PREX2 synonymous SNV PREX2:NM_024870:exon10:c.C1195A:p.R399R,PREX2:NM_025170:exon10:c.C1195A:p.R399R 0.56 0.89 0.48 0.27 0.52 0.52 0.5066 0.8357 0.4384 0.2306 0.5950 0.4900 0.5099 0.5227 0.6 0.82 0.49 0.63 0.49 rs1434774 COSM3982568;COSM3982569 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4982 0.8419 0.4439 0.4209 0.2249 0.5963 0.4911 0.4905 0.5201 0.5940 0.8363 0.4506 0.4338 0.2272 0.5874 0.5085 0.5472 het 1671.04 141 8 68968166 . C A 1671.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.150;DP=141;Dels=0.00;FS=3.035;HRun=0;HaplotypeScore=2.9296;MQ=59.21;MQ0=0;MQRankSum=1.458;QD=11.85;ReadPosRankSum=0.647;VQSLOD=6.2036;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,65:141:99:1701,0,2000 8 68968171 68968171 G A exonic PREX2 synonymous SNV PREX2:NM_024870:exon10:c.G1200A:p.K400K,PREX2:NM_025170:exon10:c.G1200A:p.K400K 0.56 0.89 0.48 0.27 0.52 0.52 0.5064 0.8349 0.4380 0.2305 0.5952 0.4898 0.5099 0.5228 0.6 0.82 0.49 0.63 0.49 rs1434775 COSM3982570;COSM3982571 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4986 0.8412 0.4445 0.4211 0.2251 0.5964 0.4914 0.4905 0.5216 0.5934 0.8350 0.4506 0.4338 0.2267 0.5871 0.5082 0.5482 het 1574.48 136 8 68968171 . G A 1574.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.403;DP=136;Dels=0.00;FS=3.090;HRun=3;HaplotypeScore=2.9296;MQ=59.21;MQ0=0;MQRankSum=0.280;QD=11.58;ReadPosRankSum=0.823;VQSLOD=6.3586;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,61:136:99:1604,0,2032 8 68993013 68993013 A G exonic PREX2 synonymous SNV PREX2:NM_024870:exon17:c.A1818G:p.G606G,PREX2:NM_025170:exon17:c.A1818G:p.G606G 0.52 0.53 0.45 0.47 0.57 0.57 0.5244 0.5420 0.4111 0.4581 0.5318 0.5410 0.5344 0.5570 0.54 0.54 0.54 . 0.5 rs12682458 COSM3763379;COSM3763378 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5172 0.5392 0.4099 0.5591 0.4552 0.5318 0.5416 0.5 0.5457 0.5397 0.5266 0.4325 0.5436 0.4626 0.5379 0.5612 0.5510 hom 3728.91 127 8 68993013 . A G 3728.91 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.01;FS=0.000;HRun=2;HaplotypeScore=1.8332;MQ=59.19;MQ0=0;QD=29.13;VQSLOD=8.5404;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:127:99:3729,277,0 8 68993014 68993014 T C exonic PREX2 synonymous SNV PREX2:NM_024870:exon17:c.T1819C:p.L607L,PREX2:NM_025170:exon17:c.T1819C:p.L607L 0.52 0.53 0.45 0.47 0.57 0.57 0.5244 0.5420 0.4110 0.4583 0.5318 0.5410 0.5343 0.5571 0.54 0.54 0.54 . 0.5 rs12680555 COSM3763381;COSM3763380 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5176 0.5394 0.4112 0.5597 0.4559 0.5316 0.5418 0.5006 0.5461 0.5397 0.5268 0.4325 0.5436 0.4615 0.5379 0.5612 0.5510 hom 3818.41 130 8 68993014 . T C 3818.41 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8332;MQ=59.20;MQ0=0;QD=29.37;VQSLOD=8.4549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3818,283,0 8 69009268 69009268 C T exonic PREX2 synonymous SNV PREX2:NM_024870:exon22:c.C2385T:p.F795F,PREX2:NM_025170:exon22:c.C2385T:p.F795F 0.27 0.27 0.24 0.19 0.28 0.34 0.2637 0.2748 0.2244 0.1781 0.2809 0.2635 0.2544 0.3234 0.27 0.27 0.26 0.16 0.28 rs3812458 COSM3763383;COSM3763382 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2595 0.2714 0.2247 0.1965 0.1787 0.2843 0.2660 0.2342 0.3201 0.2688 0.2737 0.2368 0.2167 0.1721 0.2765 0.2769 0.2751 hom 4722.17 149 8 69009268 . C T 4722.17 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=31.69;VQSLOD=9.6583;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4722,364,0 8 69020496 69020496 T C exonic PREX2 synonymous SNV PREX2:NM_024870:exon24:c.T2868C:p.S956S 0.48 0.53 0.46 0.47 0.41 0.52 0.4483 0.5212 0.5124 0.4640 0.4332 0.4139 0.4349 0.4953 0.44 0.52 0.4 0.41 0.42 rs4260880 COSM3763384 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4456 0.5162 0.4971 0.3320 0.4647 0.4434 0.4143 0.4340 0.4975 0.4560 0.5288 0.4821 0.3576 0.4622 0.4318 0.4212 0.4235 hom 1870.44 70 8 69020496 . T C 1870.44 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0625;MQ=59.13;MQ0=0;QD=26.72;VQSLOD=7.5184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:70:99:1903,150,0 8 69699756 69699756 G A exonic C8orf34 nonsynonymous SNV C8orf34:NM_001349479:exon10:c.G1354A:p.A452T,C8orf34:NM_001349477:exon11:c.G1483A:p.A495T,C8orf34:NM_001349478:exon11:c.G1405A:p.A469T,C8orf34:NM_001349476:exon12:c.G1525A:p.A509T,C8orf34:NM_052958:exon12:c.G1534A:p.A512T 0.17 0.28 0.097 0.12 0.15 0.13 0.1662 0.2518 0.0851 0.1337 0.1439 0.1816 0.1603 0.1332 0.18 0.24 0.16 0.15 0.16 rs16935065 COSM3763388;COSM3763387;COSM3763389 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.281 0.302 T 0.0 0.026 B 0.002 0.063 B 0.425 0.128 N 0.946 0.266 P 1.32 0.331 L 0.58 0.546 T -0.57 0.491 N 0.046 0.026 -1.012 0.263 T 0.000 0.000 T . . . 2.429 0.353 19.01 0.996 0.745 0.576 0.302 D c -0.510 -0.377 0.011 0.121 0.554 0.283 0 -0.339 0.120 0.502 0.221 1.048 0.713 1.000 0.715 1.000 0.888 5.091 0.139 . . . 0.1464 0.2308 0.0815 0.2293 0.1134 0.1373 0.1607 0.1632 0.1199 0.1657 0.2300 0.0907 0.1954 0.1161 0.1297 0.1470 0.1445 het 544.64 46 8 69699756 . G A 544.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.657;DP=46;Dels=0.00;FS=3.830;HRun=2;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-1.011;QD=11.84;ReadPosRankSum=-0.681;VQSLOD=6.0466;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,23:46:99:575,0,687 8 70964399 70964399 A G exonic PRDM14 synonymous SNV PRDM14:NM_024504:exon8:c.T1629C:p.D543D 0.65 0.58 0.6 0.73 0.61 0.7 0.6288 0.6070 0.5656 0.7306 0.6036 0.6254 0.6509 0.6560 0.62 0.61 0.63 0.66 0.65 rs10089937 COSM4163049 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6271 0.6088 0.5702 0.7152 0.7371 0.6018 0.6213 0.6108 0.6504 0.6278 0.6164 0.6031 0.7616 0.7364 0.6042 0.6269 0.6288 hom 5969.63 192 8 70964399 . A G 5969.63 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3924;MQ=59.65;MQ0=0;QD=31.09;VQSLOD=8.9526;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:5968,505,0 8 70967607 70967607 T C exonic PRDM14 synonymous SNV PRDM14:NM_024504:exon7:c.A1416G:p.Q472Q 0.72 0.84 0.63 0.73 0.61 0.7 0.6484 0.8171 0.5746 0.7308 0.6038 0.6266 0.6597 0.6562 0.69 0.81 0.63 0.74 0.67 rs3750225 COSM3763391 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6426 0.8222 0.5804 0.7154 0.7374 0.6017 0.6226 0.6190 0.6509 0.6863 0.8185 0.6169 0.7649 0.7360 0.6032 0.6281 0.6483 hom 3620.59 115 8 70967607 . T C 3620.59 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5149;MQ=59.11;MQ0=0;QD=31.48;VQSLOD=9.6161;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3620,277,0 8 70980738 70980738 T C exonic PRDM14 nonsynonymous SNV PRDM14:NM_024504:exon3:c.A730G:p.K244E 0.2 0.16 0.25 0.3 0.14 0.18 0.1641 0.1622 0.2588 0.2727 0.2090 0.1310 0.1806 0.1573 0.14 0.16 0.13 0.23 0.16 rs3750228 COSM4163050 1(thyroid) . . . . . . . . . . . 0.288 0.151 T 0.007 0.131 B 0.003 0.080 B 0.083 0.207 N 0.942 0.267 P 2.125 0.592 M 2.74 0.117 T -1.3 0.326 N 0.037 0.017 -0.996 0.311 T 0.000 0.000 T . . . 2.536 0.366 19.70 0.996 0.748 0.952 0.637 D c -0.362 -0.277 1.000 0.429 0.543 0.218 0 1.3 0.207 0.971 0.288 1.011 0.635 0.981 0.351 0.997 0.653 8.168 0.302 . . . 0.1684 0.1660 0.2461 0.1635 0.2772 0.2028 0.1261 0.1574 0.1562 0.1672 0.1612 0.2637 0.1821 0.2791 0.2072 0.1435 0.1690 het 941.71 68 8 70980738 . T C 941.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.131;DP=68;Dels=0.00;FS=6.688;HRun=0;HaplotypeScore=0.8321;MQ=58.76;MQ0=0;MQRankSum=1.068;QD=13.85;ReadPosRankSum=-1.007;VQSLOD=5.0227;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,38:68:99:972,0,736 8 71039118 71039118 C G exonic NCOA2 nonsynonymous SNV NCOA2:NM_001321711:exon18:c.G3639C:p.M1213I,NCOA2:NM_001321712:exon18:c.G3639C:p.M1213I,NCOA2:NM_001321713:exon18:c.G3384C:p.M1128I,NCOA2:NM_001321703:exon19:c.G3846C:p.M1282I,NCOA2:NM_001321707:exon19:c.G3846C:p.M1282I,NCOA2:NM_006540:exon19:c.G3846C:p.M1282I 0.073 0.011 0.063 0.17 0.056 0.084 0.0605 0.0218 0.0361 0.1700 0.0235 0.0561 0.0493 0.0763 0.045 0.025 0.055 0.076 . rs2228591 COSM3982580 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.306 0.142 T 0.0 0.026 B 0.0 0.013 B 0.489 0.121 N 1.000 0.191 P 0.78 0.195 N 1.87 0.241 T -1.09 0.283 N 0.181 0.221 -0.997 0.306 T 0.001 0.002 T . . . -0.131 0.082 1.512 0.803 0.127 0.252 0.224 N c -1.106 -1.070 0.554 0.213 0.707 0.730 0 -2.59 0.058 -0.572 0.059 -0.258 0.088 0.335 0.254 0.836 0.349 7.492 0.265 Domain of unknown function DUF1518 . . 0.0599 0.0219 0.0391 0.1058 0.1731 0.0221 0.0532 0.0582 0.0751 0.0465 0.0273 0.0394 0.1093 0.1768 0.0283 0.0478 0.0357 het 967.89 83 8 71039118 . C G 967.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.047;DP=83;Dels=0.00;FS=2.924;HRun=2;HaplotypeScore=3.7336;MQ=59.72;MQ0=0;MQRankSum=-0.928;QD=11.66;ReadPosRankSum=0.722;VQSLOD=4.8236;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,35:83:99:998,0,1336 8 71593425 71593425 G A exonic XKR9 synonymous SNV XKR9:NM_001011720:exon3:c.G132A:p.A44A,XKR9:NM_001287260:exon3:c.G132A:p.A44A,XKR9:NM_001287259:exon4:c.G132A:p.A44A 0.25 0.23 0.29 0.073 0.52 0.17 0.3923 0.2565 0.2149 0.0523 0.5177 0.5192 0.4009 0.2166 0.43 0.26 0.51 0.29 0.5 rs6991329 COSM3763393 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3913 0.2508 0.2377 0.4867 0.0482 0.5207 0.5206 0.4303 0.2210 0.4223 0.2679 0.2866 0.5265 0.0348 0.5054 0.5353 0.4949 het 4402.96 250 8 71593425 . G A 4402.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.393;DP=250;DS;Dels=0.00;FS=0.480;HRun=0;HaplotypeScore=9.4024;MQ=59.13;MQ0=0;MQRankSum=0.652;QD=17.61;ReadPosRankSum=-0.380;VQSLOD=3.6846;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,133:250:99:3758,0,2876 8 72211295 72211295 T C exonic EYA1 synonymous SNV EYA1:NM_172060:exon7:c.A714G:p.T238T,EYA1:NM_172058:exon8:c.A813G:p.T271T,EYA1:NM_172059:exon8:c.A798G:p.T266T,EYA1:NM_000503:exon9:c.A813G:p.T271T,EYA1:NM_001288574:exon9:c.A795G:p.T265T,EYA1:NM_001288575:exon9:c.A447G:p.T149T 0.16 0.021 0.21 0.44 0.076 0.11 0.1226 0.0357 0.2745 0.4361 0.0729 0.0819 0.1134 0.0921 0.069 0.038 0.084 0.13 0.082 rs1445398 . . Benign|Benign|Benign not_specified|Branchiootorenal_Spectrum_Disorders|Otofaciocervical_syndrome RCV000041395.3|RCV000292968.1|RCV000386749.1 MedGen|MedGen|MedGen:OMIM CN169374|CN043574|C1833691:166780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1292 0.0344 0.2613 0.0665 0.4319 0.0692 0.0837 0.1159 0.0938 0.0945 0.0366 0.25 0.0563 0.4499 0.0744 0.0867 0.0947 het 1362.23 72 8 72211295 . T C 1362.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.018;DP=72;Dels=0.00;FS=1.259;HRun=1;HaplotypeScore=0.8667;MQ=59.09;MQ0=0;MQRankSum=0.352;QD=18.92;ReadPosRankSum=-0.209;VQSLOD=5.7809;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,46:72:99:1392,0,659 8 72936145 72936145 T C exonic TRPA1 nonsynonymous SNV TRPA1:NM_007332:exon26:c.A3053G:p.H1018R 0.16 0.013 0.079 0.34 0.2 0.19 0.1815 0.0442 0.0842 0.3762 0.1559 0.1774 0.1844 0.2569 0.13 0.051 0.18 0.076 0.12 rs959976 COSM3736473;COSM3982592 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(skin) . . . . . . . . . . . 0.559 0.064 T 0.0 0.026 B 0.0 0.013 B 0.992 0.080 N 1 0.090 P -1.655 0.004 N 1.07 0.396 T 0.2 0.050 N 0.045 0.025 -0.930 0.442 T 0.000 0.000 T . . . -2.155 0.006 0.001 0.407 0.029 0.001 0.006 N c -1.557 -1.448 0.000 0.050 0.487 0.133 0 0.875 0.182 0.421 0.208 -1.165 0.017 0.002 0.151 0.000 0.016 9.369 0.372 . . . 0.1785 0.0405 0.0862 0.2499 0.3665 0.1554 0.1733 0.1613 0.2583 0.1375 0.0437 0.1014 0.2384 0.3505 0.1465 0.1653 0.1640 het 578.65 59 8 72936145 . T C 578.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.070;DP=59;Dels=0.00;FS=3.940;HRun=0;HaplotypeScore=0.9578;MQ=58.25;MQ0=0;MQRankSum=0.905;QD=9.81;ReadPosRankSum=-2.031;VQSLOD=4.6949;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,27:59:99:609,0,903 8 72975801 72975801 T G exonic TRPA1 nonsynonymous SNV TRPA1:NM_007332:exon5:c.A558C:p.K186N 0.83 0.97 0.77 0.98 0.61 0.75 0.7037 0.9204 0.8299 0.9881 0.6295 0.6101 0.6564 0.7398 0.71 0.92 0.6 0.79 0.69 rs7819749 . . . . . . . . . . . . . 0.472 0.086 T 0.0 0.026 B 0.001 0.040 B 0.126 0.188 N 1 0.090 P 0.175 0.091 N -0.14 0.650 T -0.11 0.087 N 0.021 0.005 -0.975 0.361 T 0.000 0.000 T . . . -0.228 0.074 0.958 0.776 0.115 0.050 0.106 N c -1.695 -1.750 1.000 0.458 0.554 0.246 0 -11.2 0.001 -0.535 0.062 -0.962 0.024 0.145 0.234 0.732 0.317 5.412 0.155 Ankyrin repeat-containing domain . . 0.7031 0.9196 0.8182 0.6799 0.9900 0.6286 0.6039 0.6648 0.7371 0.7286 0.9200 0.7828 0.7219 0.9901 0.6280 0.6134 0.6687 het 1083.82 85 8 72975801 . T G 1083.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.418;DP=85;Dels=0.00;FS=6.520;HRun=0;HaplotypeScore=3.9761;MQ=58.65;MQ0=0;MQRankSum=-0.541;QD=12.75;ReadPosRankSum=-0.321;VQSLOD=4.9233;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,40:85:99:1114,0,1087 8 72977703 72977703 C T exonic TRPA1 nonsynonymous SNV TRPA1:NM_007332:exon4:c.G535A:p.E179K 0.2 0.29 0.079 0.28 0.13 0.14 0.1443 0.2781 0.0705 0.3102 0.1175 0.1084 0.1311 0.1799 0.17 0.28 0.11 0.17 0.09 rs920829 COSM5507295;COSM5507296 1(biliary_tract) . . . . . . . . . . . 0.116 0.308 T 0.994 0.647 D 0.739 0.538 P 0.000 0.843 D 0.000 0.588 P 2.665 0.782 M -0.36 0.688 T -2.39 0.574 N 0.8 0.789 -1.158 0.008 T 0.000 0.000 T . . . 6.727 0.919 32 0.999 0.984 0.984 0.821 D c 0.613 0.636 1.000 0.747 0.554 0.246 0 5.39 0.775 6.800 0.748 0.935 0.490 1.000 0.715 0.984 0.507 19.524 0.952 Ankyrin repeat-containing domain . . 0.1375 0.2805 0.0697 0.1354 0.3062 0.1150 0.1066 0.1069 0.1801 0.1611 0.2728 0.0955 0.1093 0.2831 0.1074 0.1028 0.1212 het 871.14 57 8 72977703 . C T 871.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.570;DP=57;Dels=0.00;FS=1.182;HRun=2;HaplotypeScore=4.9512;MQ=57.33;MQ0=0;MQRankSum=-0.317;QD=15.28;ReadPosRankSum=-0.870;VQSLOD=4.1106;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,34:57:99:901,0,607 8 72981318 72981318 G A exonic TRPA1 synonymous SNV TRPA1:NM_007332:exon3:c.C384T:p.N128N 0.2 0.29 0.079 0.28 0.13 0.14 0.1431 0.2777 0.0695 0.3099 0.1148 0.1074 0.1289 0.1789 0.17 0.28 0.11 0.17 0.09 rs28546865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1374 0.2810 0.0696 0.1353 0.3064 0.1139 0.1066 0.1066 0.1799 0.1602 0.2715 0.0955 0.1093 0.2855 0.1054 0.1022 0.1204 het 2454.20 194 8 72981318 . G A 2454.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.275;DP=194;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.0886;MQ=59.37;MQ0=0;MQRankSum=1.788;QD=12.65;ReadPosRankSum=1.076;VQSLOD=4.3628;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,98:194:99:2484,0,2577 8 72981327 72981327 A G exonic TRPA1 synonymous SNV TRPA1:NM_007332:exon3:c.T375C:p.N125N 0.81 0.9 0.76 0.98 0.61 0.75 0.6981 0.8637 0.8277 0.9881 0.6286 0.6093 0.6531 0.7397 0.69 0.87 0.6 0.76 0.7 rs1811457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6989 0.8619 0.8156 0.6801 0.9900 0.6280 0.6036 0.6630 0.7370 0.7106 0.8590 0.7804 0.7219 0.9901 0.6270 0.6128 0.6622 het 2395.77 165 8 72981327 . A G 2395.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.411;DP=165;DS;Dels=0.00;FS=0.627;HRun=1;HaplotypeScore=6.2658;MQ=59.48;MQ0=0;MQRankSum=0.129;QD=14.52;ReadPosRankSum=0.351;VQSLOD=4.6621;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,88:165:99:2426,0,2035 8 73850203 73850203 G A exonic KCNB2 synonymous SNV KCNB2:NM_004770:exon3:c.G2613A:p.V871V 0.24 0.2 0.28 0.094 0.43 0.2 0.3309 0.2234 0.2330 0.0975 0.4000 0.4046 0.3403 0.2633 0.35 0.23 0.41 0.23 0.44 rs11782118 COSM3763398 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3355 0.2199 0.2546 0.3621 0.0985 0.4072 0.4149 0.3477 0.2638 0.3438 0.2314 0.2902 0.3444 0.1020 0.4169 0.4206 0.3554 hom 5395.15 170 8 73850203 . G A 5395.15 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1657;MQ=58.93;MQ0=0;QD=31.74;VQSLOD=9.0051;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:5395,427,0 8 73982161 73982161 A G exonic SBSPON nonsynonymous SNV SBSPON:NM_153225:exon4:c.T556C:p.W186R 0.58 0.74 0.47 0.29 0.68 0.61 0.6370 0.7249 0.4108 0.3039 0.6983 0.7048 0.6779 0.6164 0.72 0.74 0.71 0.55 0.66 rs2291219 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 1.000 0.090 P -2.455 0.001 N 2.01 0.213 T 3.9 0.001 N 0.04 0.020 -0.963 0.387 T 0.000 0.000 T . . . -0.712 0.044 0.068 0.242 0.011 0.153 0.187 N c -1.248 -0.987 0.015 0.127 0.537 0.215 0 3.22 0.359 2.707 0.466 -0.908 0.026 0.996 0.391 0.028 0.145 6.948 0.236 . ENSG00000253636.1|ENSG00000147601.9 Nerve_Tibial|Pancreas 0.6261 0.7313 0.4261 0.7023 0.3052 0.6922 0.7053 0.6615 0.6076 0.6800 0.7255 0.4642 0.7219 0.3243 0.7070 0.6965 0.6867 hom 3918.30 130 8 73982161 . A G 3918.30 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.640;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4820;MQ=59.86;MQ0=0;MQRankSum=-0.640;QD=30.14;ReadPosRankSum=0.266;VQSLOD=8.9086;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,129:130:99:3879,277,0 8 73993267 73993267 G A exonic SBSPON synonymous SNV SBSPON:NM_153225:exon2:c.C396T:p.C132C 0.0016 0.0008 0.0014 . 0.006 . 0.0059 0.0014 0.0040 0 0.0017 0.0092 0.0012 8.859e-05 0.0079 0.0012 0.011 . 0.016 rs117453532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0054 0.0012 0.0062 0.0054 0 0.0017 0.0088 0.0069 0.0001 0.0051 0.0020 0.0036 0.0033 0 0.0023 0.0082 0.0051 het 2988.78 223 8 73993267 . G A 2988.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.402;DP=223;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.7018;MQ=59.02;MQ0=0;MQRankSum=1.239;QD=13.40;ReadPosRankSum=-0.250;VQSLOD=3.8735;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,108:223:99:3019,0,3070 8 74527996 74527996 C T exonic STAU2 nonsynonymous SNV STAU2:NM_001164383:exon3:c.G76A:p.V26M,STAU2:NM_001164385:exon5:c.G478A:p.V160M,STAU2:NM_001164382:exon6:c.G280A:p.V94M,STAU2:NM_001164384:exon6:c.G496A:p.V166M,STAU2:NM_001164381:exon7:c.G496A:p.V166M,STAU2:NM_014393:exon7:c.G496A:p.V166M,STAU2:NM_001164380:exon8:c.G592A:p.V198M 0.85 0.78 0.79 0.97 0.92 0.83 0.8879 0.8126 0.7368 0.9626 0.9079 0.9220 0.9084 0.8552 0.89 0.82 0.92 0.81 0.95 rs949493 . . . . . . . . . . . . . 0.219 0.218 T 0.002 0.165 B 0.003 0.176 B 0.016 0.282 N 1 0.318 P . . . -0.04 0.633 T 0.04 0.069 N 0.012 0.071 -1.057 0.126 T 0.000 0.000 T . . . 2.270 0.334 17.97 0.975 0.340 0.016 0.052 N c -0.667 -0.579 0.244 0.186 0.732 0.924 0 1.91 0.247 -0.533 0.062 0.154 0.240 0.044 0.210 0.997 0.653 1.860 0.030 . . . 0.8837 0.8078 0.7419 0.9645 0.9643 0.9072 0.9199 0.8984 0.8537 0.8848 0.8048 0.7733 0.9404 0.9667 0.9032 0.9224 0.8982 hom 4573.02 157 8 74527996 . C T 4573.02 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3281;MQ=59.07;MQ0=0;QD=29.13;VQSLOD=8.4299;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4572,361,0 8 74917084 74917084 A G exonic LY96 nonsynonymous SNV LY96:NM_015364:exon2:c.A166G:p.R56G 0.99 1. 0.99 1. 0.98 0.98 0.9723 0.9933 0.9857 0.9999 0.9754 0.9624 0.9789 0.9737 0.97 0.99 0.96 1. 0.8 rs6472812 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.218 0.162 N 1 0.090 P -2.34 0.001 N 1.64 0.278 T 3.01 0.001 N 0.013 0.049 -0.999 0.302 T 0.000 0.000 T . . . -1.007 0.032 0.015 0.125 0.002 0.000 0.003 N c -1.445 -1.280 0.011 0.121 0.706 0.609 0 3.26 0.363 0.730 0.255 0.138 0.222 0.054 0.214 0.027 0.143 6.118 0.192 Immunoglobulin E-set|MD-2-related lipid-recognition domain . . 0.9718 0.9936 0.9821 0.9399 0.9999 0.9785 0.9624 0.9697 0.9736 0.9766 0.9928 0.9737 0.9536 1 0.9797 0.9649 0.9715 hom 5064.20 174 8 74917084 . A G 5064.20 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=29.10;VQSLOD=8.3577;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:5064,382,0 8 75262798 75262798 G C exonic GDAP1 synonymous SNV GDAP1:NM_018972:exon1:c.G102C:p.S34S 1. 1. 1. 1. 1. 0.98 0.9973 1 0.9999 1 1 1.0000 0.9956 0.9808 . . . 1. 1. rs7828201 COSM4163063 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9974 1 1 1 1 1.0000 1 0.9991 0.9796 1.0000 1 1 1 1 1 1 0.9990 hom 2927.40 92 8 75262798 . G C 2927.40 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.82;VQSLOD=12.9213;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:92:99:2960,232,0 8 75274141 75274141 T G exonic GDAP1 synonymous SNV GDAP1:NM_001040875:exon4:c.T303G:p.S101S,GDAP1:NM_018972:exon4:c.T507G:p.S169S 0.22 0.093 0.18 0.3 0.36 0.19 0.2774 0.1177 0.1695 0.3128 0.3363 0.3277 0.2863 0.2072 0.25 0.13 0.32 0.23 0.35 rs11554166 COSM3763403 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign|Benign not_specified|Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Charcot-Marie-Tooth\x2c_Intermediate RCV000251902.1|RCV000325881.1|RCV000380453.1 MedGen|MedGen|MedGen CN169374|CN239254|CN239334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2793 0.1129 0.1843 0.2833 0.3239 0.3291 0.3318 0.3038 0.2089 0.2729 0.1154 0.2024 0.3333 0.3356 0.3321 0.3430 0.3310 het 787.30 93 8 75274141 . T G 787.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.817;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5486;MQ=57.85;MQ0=0;MQRankSum=0.499;QD=8.47;ReadPosRankSum=1.312;VQSLOD=4.2899;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,34:93:99:817,0,1490 8 76452313 76452313 G A exonic HNF4G nonsynonymous SNV HNF4G:NM_004133:exon1:c.G86A:p.S29N 0.61 0.95 0.48 0.39 0.58 0.5 0.5729 0.8968 0.4066 0.4406 0.6675 0.5769 0.5991 0.5103 0.67 0.89 0.57 0.72 0.43 rs2943549 COSM3763404 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.036 0.246 N 1.000 0.588 P . . . -2.95 0.919 D -0.12 0.088 N 0.007 0.000 -0.946 0.417 T 0.000 0.000 T . . . -0.287 0.069 0.712 0.168 0.005 0.157 0.189 N c -0.868 -0.690 0.000 0.066 0.487 0.133 0 3.58 0.400 1.198 0.316 0.126 0.213 0.999 0.424 0.973 0.468 8.075 0.297 Zinc finger\x2c NHR/GATA-type|Zinc finger\x2c nuclear hormone receptor-type . . 0.5641 0.9049 0.4168 0.5608 0.4377 0.6668 0.5764 0.5718 0.5066 0.6767 0.9020 0.4475 0.5993 0.4276 0.6595 0.5934 0.6293 hom 2747.50 87 8 76452313 . G A 2747.50 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=31.58;VQSLOD=9.2742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2781,220,0 8 76468282 76468282 G A exonic HNF4G nonsynonymous SNV HNF4G:NM_004133:exon6:c.G681A:p.M227I,HNF4G:NM_001330561:exon8:c.G570A:p.M190I 0.61 0.95 0.49 0.39 0.59 0.5 0.5803 0.8960 0.4078 0.4373 0.6745 0.5872 0.5960 0.5098 0.68 0.89 0.58 0.62 0.44 rs1805098 . . . . . . . . . . . . . 0.265 0.209 T 0.001 0.067 B 0.017 0.170 B 0.154 0.179 N 0.845 0.319 P 1.04 0.263 L -3.95 0.962 D -1.04 0.273 N 0.034 0.017 -0.977 0.358 T 0.000 0.000 T . . . 1.900 0.289 15.59 0.952 0.257 0.139 0.179 N c -0.596 -0.498 0.993 0.328 0.487 0.133 0 2.52 0.294 -1.551 0.023 1.048 0.713 0.000 0.063 1.000 0.888 4.259 0.101 Nuclear hormone receptor\x2c ligand-binding domain . . 0.5725 0.9032 0.4193 0.5570 0.4366 0.6735 0.5869 0.5800 0.5083 0.6846 0.9009 0.4638 0.5933 0.4263 0.6777 0.6044 0.6351 hom 1729.66 64 8 76468282 . G A 1729.66 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=27.03;VQSLOD=8.3222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1763,132,0 8 77745635 77745635 G A exonic ZFHX4 synonymous SNV ZFHX4:NM_024721:exon5:c.G3387A:p.S1129S 0.61 0.83 0.5 0.65 0.45 0.5 0.5391 0.7822 0.5353 0.6830 0.5225 0.4915 0.4881 0.5087 0.56 0.77 0.46 0.64 . rs2733733 COSM5480706;COSM5480707 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4999 0.7833 0.4904 0.4125 0.6584 0.4964 0.4553 0.4557 0.4805 0.5666 0.7811 0.4809 0.3933 0.6435 0.5011 0.4618 0.4908 hom 786.50 27 8 77745635 . G A 786.50 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;QD=29.13;VQSLOD=8.3569;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:63.20:820,63,0 8 77765865 77765865 C T exonic ZFHX4 synonymous SNV ZFHX4:NM_024721:exon10:c.C6708T:p.Y2236Y 0.14 0.043 0.13 0.033 0.26 0.28 0.2194 0.0735 0.1019 0.0451 0.2853 0.2659 0.1975 0.2646 0.2 0.082 0.26 0.17 . rs2728455 COSM3763411;COSM3763412 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2139 0.0714 0.1035 0.2091 0.0439 0.2767 0.2670 0.2175 0.2633 0.1957 0.0748 0.1007 0.2086 0.0457 0.2787 0.2651 0.2372 hom 1599.18 49 8 77765865 . C T 1599.18 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.64;VQSLOD=13.6633;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1632,135,0 8 77895865 77895865 A G exonic PEX2 nonsynonymous SNV PEX2:NM_001079867:exon3:c.T550C:p.C184R,PEX2:NM_001172087:exon3:c.T550C:p.C184R,PEX2:NM_000318:exon4:c.T550C:p.C184R,PEX2:NM_001172086:exon5:c.T550C:p.C184R 1. 1. 1. 1. 0.98 1. 0.9878 0.9975 0.9976 1 0.9510 0.9846 0.9868 0.9959 0.99 1. 0.99 1. 0.95 rs10087163 . . Benign not_specified RCV000153682.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.177 0.348 P -3.155 0.000 N -1.47 0.811 T 7.39 0.000 N 0.398 0.457 -0.933 0.437 T 0.000 0.000 T . . . -0.023 0.091 2.371 0.198 0.007 0.210 0.210 N c -1.072 -0.772 1.000 0.747 0.731 0.878 0 3.59 0.401 6.272 0.724 0.138 0.222 1.000 0.715 0.902 0.382 10.819 0.456 Pex\x2c N-terminal . . 0.9872 0.9976 0.9967 0.9941 1 0.9537 0.9844 0.9920 0.9957 0.9818 0.9963 0.9916 0.9901 1 0.9536 0.9773 0.9807 hom 4579.63 154 8 77895865 . A G 4579.63 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9482;MQ=58.50;MQ0=0;QD=29.74;VQSLOD=8.2790;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:4579,355,0 8 79610710 79610710 A G exonic ZC2HC1A synonymous SNV ZC2HC1A:NM_016010:exon7:c.A666G:p.L222L 0.72 0.5 0.8 0.9 0.72 0.77 0.7381 0.5346 0.8480 0.9144 0.7362 0.7238 0.7163 0.7561 0.67 0.54 0.73 0.66 0.7 rs1054283 COSM1569545 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7426 0.5345 0.8342 0.5781 0.9107 0.7245 0.7338 0.7101 0.7553 0.6850 0.5287 0.8194 0.5872 0.9031 0.7233 0.7357 0.7157 het 1556.92 135 8 79610710 . A G 1556.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.023;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5133;MQ=59.69;MQ0=0;MQRankSum=0.222;QD=11.53;ReadPosRankSum=0.588;VQSLOD=6.2421;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,66:135:99:1587,0,1560 8 82606782 82606782 A G exonic SLC10A5 synonymous SNV SLC10A5:NM_001010893:exon1:c.T426C:p.N142N 0.44 0.34 0.6 0.13 0.59 0.63 0.5452 0.3876 0.5881 0.1289 0.5277 0.5951 0.5675 0.6361 0.53 0.39 0.6 0.46 0.67 rs2955006 COSM4415190 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5465 0.3746 0.5882 0.5688 0.1233 0.5249 0.6009 0.5688 0.6314 0.5109 0.3838 0.5835 0.6026 0.1460 0.5289 0.6084 0.5961 hom 4165.37 130 8 82606782 . A G 4165.37 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.03;MQ0=0;QD=32.04;VQSLOD=9.2195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4165,319,0 8 82727569 82727569 T C exonic SNX16 synonymous SNV SNX16:NM_152837:exon4:c.A585G:p.E195E,SNX16:NM_152836:exon5:c.A672G:p.E224E,SNX16:NM_022133:exon6:c.A672G:p.E224E,SNX16:NM_001348189:exon7:c.A585G:p.E195E 0.16 0.014 0.15 0.2 0.2 0.27 0.1973 0.0425 0.1953 0.2000 0.2987 0.1980 0.2067 0.2493 0.14 0.044 0.19 0.098 0.17 rs16909651 COSM1458382 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1964 0.0374 0.1859 0.1259 0.1972 0.3080 0.1932 0.1799 0.2430 0.1648 0.0435 0.1986 0.1457 0.1937 0.3 0.1957 0.2213 het 764.63 67 8 82727569 . T C 764.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.837;DP=67;Dels=0.00;FS=3.466;HRun=1;HaplotypeScore=2.5326;MQ=58.81;MQ0=0;MQRankSum=-0.433;QD=11.41;ReadPosRankSum=1.398;VQSLOD=5.7462;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,34:67:99:795,0,781 8 86021994 86021994 G A exonic LRRCC1 nonsynonymous SNV LRRCC1:NM_033402:exon2:c.G269A:p.C90Y 0.057 0.0083 0.039 0.015 0.09 0.14 0.0945 0.0185 0.0404 0.0106 0.1158 0.1169 0.0878 0.1235 0.082 0.02 0.11 0.065 0.025 rs62525422 . . . . . . . . . . . . . 0.068 0.363 T 0.969 0.548 D 0.66 0.510 P 0.022 0.267 N 0.549 0.313 P 0.835 0.211 L 3.01 0.091 T -1.4 0.346 N 0.156 0.186 -0.995 0.313 T 0.001 0.002 T . . . 3.139 0.437 22.6 0.975 0.336 0.972 0.731 D c 0.271 0.335 1.000 0.747 0.638 0.428 0 5.52 0.821 5.397 0.658 0.998 0.613 1.000 0.715 0.986 0.517 12.742 0.565 Leucine-rich repeat domain\x2c L domain-like ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11|ENSG00000133739.11 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Stomach|Thyroid 0.0914 0.0183 0.0418 0.1056 0.0099 0.1100 0.1146 0.0890 0.1246 0.0794 0.0205 0.0490 0.0894 0.0080 0.1063 0.1145 0.1133 het 647.06 54 8 86021994 . G A 647.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.033;DP=54;Dels=0.00;FS=2.386;HRun=0;HaplotypeScore=0.7340;MQ=57.42;MQ0=0;MQRankSum=-0.390;QD=11.98;ReadPosRankSum=0.199;VQSLOD=4.5245;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,28:54:99:677,0,733 8 86049708 86049708 T C exonic LRRCC1 nonsynonymous SNV LRRCC1:NM_001349639:exon11:c.T1202C:p.L401P,LRRCC1:NM_001349638:exon13:c.T1442C:p.L481P,LRRCC1:NM_001349636:exon14:c.T2060C:p.L687P,LRRCC1:NM_001349637:exon15:c.T1913C:p.L638P,LRRCC1:NM_033402:exon15:c.T2339C:p.L780P 0.001 . . . 0.005 . 0.0038 0.0010 0.0010 0 0.0030 0.0055 0.0022 0.0025 0.004 0.0006 0.0055 0.011 0.016 rs147274148 . . . . . . . . . . . . . 0.001 0.784 D 0.999 0.764 D 0.958 0.683 D 0.138 0.184 N 1 0.810 D 2.815 0.823 M 0.74 0.505 T -5.14 0.833 D 0.761 0.785 -0.738 0.586 T 0.184 0.533 T 0.064 0.692 D 5.008 0.674 25.1 0.995 0.695 0.969 0.711 D c 0.137 0.127 1.000 0.747 0.706 0.609 0 4.72 0.591 7.214 0.773 0.113 0.207 1.000 0.715 0.001 0.043 12.345 0.543 . . . 0.0039 0.0012 0.0007 0.0018 0 0.0033 0.0060 0.0026 0.0026 0.0043 0.0009 0.0012 0 0 0.0020 0.0076 0.0020 het 1297.45 100 8 86049708 . T C 1297.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.163;DP=100;Dels=0.00;FS=2.888;HRun=1;HaplotypeScore=1.8332;MQ=59.54;MQ0=0;MQRankSum=0.370;QD=12.97;ReadPosRankSum=-0.266;VQSLOD=5.0723;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,54:100:99:1327,0,1200 8 86057707 86057707 A G exonic LRRCC1 synonymous SNV LRRCC1:NM_001349639:exon15:c.A1923G:p.Q641Q,LRRCC1:NM_001349638:exon17:c.A2163G:p.Q721Q,LRRCC1:NM_001349636:exon18:c.A2781G:p.Q927Q,LRRCC1:NM_001349637:exon19:c.A2634G:p.Q878Q,LRRCC1:NM_033402:exon19:c.A3060G:p.Q1020Q 0.057 0.0083 0.039 0.016 0.09 0.14 0.0948 0.0186 0.0410 0.0108 0.1163 0.1175 0.0858 0.1218 0.083 0.02 0.11 0.043 0.016 rs62525428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0893 0.0179 0.0387 0.1034 0.0097 0.1092 0.1127 0.0878 0.1145 0.0794 0.0204 0.0490 0.0894 0.0080 0.1051 0.1148 0.1130 het 1237.47 91 8 86057707 . A G 1237.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.295;DP=91;Dels=0.00;FS=1.863;HRun=0;HaplotypeScore=2.7292;MQ=58.12;MQ0=0;MQRankSum=0.171;QD=13.60;ReadPosRankSum=0.634;VQSLOD=4.7780;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,50:91:99:1267,0,1044 8 86126827 86126827 - AACATT exonic C8orf59 nonframeshift insertion C8orf59:NM_001293320:exon3:c.147_148insAATGTT:p.V49_D50insNV,C8orf59:NM_001099673:exon4:c.264_265insAATGTT:p.V88_D89insNV,C8orf59:NM_001099670:exon5:c.264_265insAATGTT:p.V88_D89insNV,C8orf59:NM_001099671:exon5:c.264_265insAATGTT:p.V88_D89insNV,C8orf59:NM_001099672:exon5:c.264_265insAATGTT:p.V88_D89insNV 1. 1. 1. 1. 0.99 1. 0.9970 0.9994 0.9964 0.9966 0.9986 0.9969 0.9967 0.9960 1. 1. 1. . . rs61703408 COSM1458434 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9970 0.9993 0.9960 0.9975 0.9973 0.9992 0.9967 0.9974 0.9960 0.9977 0.9993 0.9976 0.9934 0.9969 0.9991 0.9967 0.9959 hom 6777.44 76 8 86126827 . C CAACATT 6777.44 Mask AC=2;AF=1.00;AN=2;DP=76;FS=0.000;HRun=0;HaplotypeScore=312.4271;MQ=35.25;MQ0=0;QD=88.02;set=variant2 GT:AD:DP:GQ:PL 1/1:19,43:76:99:6777,214,0 8 86351997 86351997 G A exonic CA3 nonsynonymous SNV CA3:NM_005181:exon2:c.G91A:p.V31I 0.44 0.28 0.52 0.45 0.63 0.39 0.5481 0.3295 0.5081 0.4280 0.7133 0.6178 0.5837 0.4268 0.51 0.33 0.61 0.43 0.57 rs20571 COSM3982611 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.981 0.250 P -2.32 0.001 N 2.01 0.213 T 0.48 0.030 N 0.079 0.071 -0.941 0.425 T 0.000 0.000 T . . . 0.821 0.172 9.594 0.766 0.112 0.056 0.114 N c -0.761 -0.444 0.811 0.243 0.554 0.246 0 4.66 0.577 3.596 0.535 -0.159 0.107 1.000 0.715 0.971 0.463 11.040 0.469 Alpha carbonic anhydrase ENSG00000253549.1|ENSG00000133739.11|ENSG00000253549.1|ENSG00000253549.1 Brain_Putamen_basal_ganglia|Esophagus_Mucosa|Thyroid|Whole_Blood 0.5514 0.3262 0.4991 0.5705 0.4319 0.7160 0.6144 0.5865 0.4278 0.5304 0.3264 0.4976 0.5828 0.4058 0.7056 0.6205 0.5601 het 860.77 74 8 86351997 . G A 860.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.739;DP=74;Dels=0.00;FS=6.182;HRun=0;HaplotypeScore=1.8920;MQ=59.24;MQ0=0;MQRankSum=-0.563;QD=11.63;ReadPosRankSum=-0.585;VQSLOD=5.3092;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,35:74:99:891,0,881 8 86389403 86389403 T C exonic CA2 synonymous SNV CA2:NM_001293675:exon5:c.T259C:p.L87L,CA2:NM_000067:exon6:c.T562C:p.L188L 0.58 0.74 0.55 0.5 0.63 0.41 0.5893 0.7144 0.5274 0.4722 0.6953 0.6223 0.6002 0.4385 0.64 0.7 0.62 0.5 0.57 rs703 COSM3982612 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Osteopetrosis_with_renal_tubular_acidosis RCV000242714.1|RCV000386953.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0345407:259730:254122007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5859 0.7203 0.5227 0.5677 0.4845 0.6948 0.6208 0.6057 0.4416 0.6444 0.7135 0.5371 0.5767 0.4639 0.6863 0.6247 0.5883 het 4339.39 248 8 86389403 . T C 4339.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.502;DP=248;DS;Dels=0.00;FS=2.263;HRun=2;HaplotypeScore=4.5933;MQ=59.19;MQ0=0;MQRankSum=-0.410;QD=17.50;ReadPosRankSum=-0.961;VQSLOD=4.6940;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,125:248:99:3652,0,3657 8 87235273 87235273 C T exonic SLC7A13 nonsynonymous SNV SLC7A13:NM_138817:exon2:c.G745A:p.V249M 0.096 0.13 0.075 0.018 0.15 0.092 0.1167 0.1360 0.0520 0.0131 0.1503 0.1433 0.1101 0.0833 0.15 0.14 0.15 0.16 0.098 rs2976189 . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.997 0.875 D 0.002 0.370 N 1.000 0.182 P 3.33 0.910 M -2.89 0.916 D -2.59 0.571 D 0.19 0.280 -0.776 0.566 T 0.028 0.121 T . . . 4.326 0.579 24.0 0.997 0.809 0.243 0.221 N c 0.098 -0.131 0.000 0.041 0.487 0.133 0 2.49 0.291 0.814 0.267 0.046 0.159 0.824 0.298 0.853 0.356 7.804 0.282 . ENSG00000123124.9|ENSG00000253699.1 Cells_Transformed_fibroblasts|Testis 0.1122 0.1225 0.0509 0.0940 0.0129 0.1479 0.1474 0.1132 0.0787 0.1349 0.1313 0.0764 0.0967 0.0118 0.1583 0.1489 0.1316 hom 5284.12 174 8 87235273 . C T 5284.12 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=30.37;VQSLOD=9.4237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:174:99:5248,412,0 8 87519315 87519315 T G exonic RMDN1 nonsynonymous SNV RMDN1:NM_001286707:exon2:c.A156C:p.K52N,RMDN1:NM_001286719:exon2:c.A156C:p.K52N,RMDN1:NM_001317807:exon2:c.A24C:p.K8N,RMDN1:NM_016033:exon2:c.A156C:p.K52N 0.15 0.17 0.13 0.05 0.25 0.15 0.2168 0.1947 0.0939 0.0420 0.2774 0.2704 0.2346 0.1662 0.25 0.2 0.27 0.2 0.21 rs6980476 . . . . . . . . . . . . . 0.158 0.371 T 0.021 0.172 B 0.007 0.149 B 0.090 0.204 N 0.000 0.588 P 0.895 0.225 L 1.15 0.556 T -0.83 0.227 N 0.033 0.218 -1.045 0.158 T 0.000 0.000 T . . . 2.365 0.345 18.59 0.994 0.621 0.689 0.337 D c -0.259 -0.148 1.000 0.500 0.732 0.924 0 3.26 0.363 2.329 0.433 0.144 0.231 1.000 0.715 0.978 0.483 5.852 0.178 . ENSG00000085719.7 Brain_Cerebellar_Hemisphere 0.2134 0.19 0.1092 0.2689 0.0422 0.2783 0.2694 0.2271 0.1638 0.2357 0.1915 0.1241 0.2616 0.0327 0.2878 0.2762 0.25 het 1776.46 128 8 87519315 . T G 1776.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DP=128;Dels=0.00;FS=3.446;HRun=0;HaplotypeScore=0.9993;MQ=59.37;MQ0=0;MQRankSum=1.104;QD=13.88;ReadPosRankSum=-0.164;VQSLOD=6.5817;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,66:128:99:1806,0,1565 8 87540872 87540872 G A exonic CPNE3 synonymous SNV CPNE3:NM_003909:exon3:c.G99A:p.L33L 0.16 0.21 0.14 0.05 0.26 0.15 0.2203 0.2308 0.0968 0.0416 0.2772 0.2705 0.2356 0.1670 0.26 0.24 0.27 0.2 0.21 rs10956871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2157 0.2282 0.1104 0.2685 0.0418 0.2777 0.2693 0.2279 0.1635 0.2482 0.2325 0.1241 0.2616 0.0321 0.2878 0.2775 0.2582 het 564.54 62 8 87540872 . G A 564.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.635;DP=62;Dels=0.00;FS=3.741;HRun=0;HaplotypeScore=0.9159;MQ=58.17;MQ0=0;MQRankSum=-0.990;QD=9.11;ReadPosRankSum=-0.079;VQSLOD=4.6758;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,24:62:99:595,0,1093 8 87588198 87588198 T C exonic CNGB3 nonsynonymous SNV CNGB3:NM_019098:exon18:c.A2264G:p.E755G 0.082 0.07 0.085 0.1 0.088 0.071 0.0873 0.0718 0.0821 0.0787 0.1095 0.0908 0.0936 0.0814 0.081 0.07 0.086 0.076 0.066 rs3735972 . . Benign|Likely benign|Likely benign not_specified|Stargardt_Disease\x2c_Recessive|Achromatopsia RCV000153049.5|RCV000331014.1|RCV000367023.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN169374|CN239312|C0152200:ORPHA49382:56852002 . . . . . . 0.032 0.446 D 0.187 0.276 B 0.08 0.274 B 0.336 0.140 N 1 0.090 P 0.345 0.112 N -4.28 0.971 D -1.57 0.379 N 0.035 0.015 -0.387 0.725 T 0.105 0.384 T . . . 0.740 0.165 9.085 0.961 0.280 0.143 0.181 N c -0.896 -0.884 0.396 0.201 0.487 0.133 0 2.97 0.333 0.315 0.191 1.011 0.635 0.000 0.063 0.001 0.043 6.471 0.211 . . . 0.0872 0.0744 0.0786 0.0604 0.0878 0.1084 0.0911 0.0880 0.0814 0.0887 0.0656 0.0883 0.0497 0.0815 0.1133 0.0977 0.0927 het 1388.88 139 8 87588198 . T C 1388.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.966;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8482;MQ=58.95;MQ0=1;MQRankSum=0.535;QD=9.99;ReadPosRankSum=-0.230;VQSLOD=6.5203;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,55:139:99:1419,0,2195 8 87666251 87666251 T G exonic CNGB3 nonsynonymous SNV CNGB3:NM_019098:exon7:c.A892C:p.T298P 0.68 0.62 0.57 0.78 0.65 0.77 0.6657 0.6358 0.5591 0.8003 0.6588 0.6472 0.6766 0.7654 0.64 0.63 0.65 0.63 0.64 rs4961206 COSM5001115 1(bone);1(breast);1(pancreas) Benign|Benign|Benign not_specified|Achromatopsia|Stargardt_Disease\x2c_Recessive RCV000081979.5|RCV000337843.1|RCV000373837.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen CN169374|C0152200:ORPHA49382:56852002|CN239312 . . . . . . 0.266 0.162 T 0.004 0.119 B 0.012 0.149 B 0.038 0.243 N 0.958 0.262 P 0.99 0.251 L 0.71 0.512 T -2.08 0.475 N 0.245 0.299 -0.970 0.373 T 0.000 0.000 T . . . 2.384 0.348 18.71 0.976 0.342 0.844 0.432 D c -0.204 -0.023 0.000 0.057 0.487 0.133 0 4.23 0.492 1.392 0.339 1.061 0.807 1.000 0.715 1.000 0.888 5.586 0.164 Ion transport domain . . 0.6608 0.6370 0.5658 0.7104 0.7986 0.6486 0.6415 0.6445 0.7650 0.6422 0.6194 0.5823 0.7417 0.8067 0.6442 0.6369 0.6698 hom 1067.88 42 8 87666251 . T G 1067.88 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=25.43;VQSLOD=7.7672;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:42:81.25:1101,81,0 8 87679303 87679303 A C exonic CNGB3 nonsynonymous SNV CNGB3:NM_019098:exon6:c.T702G:p.C234W 0.96 0.99 0.93 1. 0.86 0.98 0.8946 0.9740 0.9396 0.9999 0.8743 0.8414 0.8888 0.9814 0.88 0.97 0.83 0.98 0.88 rs6471482 . . Benign|Benign|Benign not_specified|Achromatopsia|Stargardt_Disease\x2c_Recessive RCV000250693.1|RCV000310169.1|RCV000364988.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen CN169374|C0152200:ORPHA49382:56852002|CN239312 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.002 0.450 P -3.35 0.000 N 2.98 0.094 T 12.86 0.000 N 0.2 0.245 -0.938 0.429 T 0.000 0.000 T . . . 1.842 0.282 15.24 0.499 0.042 0.137 0.178 N c -0.842 -0.472 0.998 0.358 0.487 0.133 0 5.55 0.832 5.034 0.637 0.067 0.174 1.000 0.715 0.966 0.452 15.985 0.798 Ion transport domain ENSG00000170289.8 Testis 0.8921 0.9756 0.9325 0.8696 0.9999 0.8655 0.8351 0.8753 0.9822 0.8862 0.9682 0.9272 0.8576 1 0.8635 0.8310 0.8663 hom 3407.86 105 8 87679303 . A C 3407.86 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6553;MQ=59.78;MQ0=0;QD=32.46;VQSLOD=9.0381;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3407,265,0 8 90958422 90958422 T C exonic NBN synonymous SNV NBN:NM_002485:exon13:c.A2016G:p.P672P,NBN:NM_001024688:exon14:c.A1770G:p.P590P 0.35 0.22 0.38 0.47 0.31 0.45 0.3451 0.2278 0.3452 0.4444 0.3555 0.3280 0.3675 0.4301 0.28 0.23 0.31 0.35 0.21 rs1061302 COSM3763441 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign|Benign|Benign Hereditary_cancer-predisposing_syndrome|not_specified|Microcephaly\x2c_normal_intelligence_and_immunodeficiency RCV000162357.1|RCV000243757.1|RCV000393183.1 MedGen:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C0027672:699346009|CN169374|C0398791:251260:ORPHA647:234638009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3470 0.2289 0.3494 0.3163 0.4546 0.3544 0.3251 0.3321 0.4293 0.3122 0.2281 0.3394 0.3311 0.4275 0.3615 0.3328 0.3514 hom 2311.58 74 8 90958422 . T C 2311.58 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=59.69;MQ0=0;QD=31.24;VQSLOD=9.1193;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2345,187,0 8 90967711 90967711 A G exonic NBN synonymous SNV NBN:NM_002485:exon10:c.T1197C:p.D399D,NBN:NM_001024688:exon11:c.T951C:p.D317D 0.61 0.85 0.55 0.66 0.34 0.53 0.4676 0.7691 0.5891 0.6466 0.4398 0.3671 0.4614 0.5164 0.49 0.75 0.36 0.64 0.27 rs709816 COSM3763442 1(large_intestine) Benign|Benign|Benign Hereditary_cancer-predisposing_syndrome|not_specified|Microcephaly\x2c_normal_intelligence_and_immunodeficiency RCV000162376.1|RCV000173761.2|RCV000322749.1 MedGen:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C0027672:699346009|CN169374|C0398791:251260:ORPHA647:234638009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4640 0.7770 0.5788 0.3572 0.6464 0.4343 0.3622 0.4240 0.5123 0.5139 0.7626 0.5477 0.3675 0.6286 0.4433 0.3777 0.4611 hom 2045.24 69 8 90967711 . A G 2045.24 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.99;MQ0=0;QD=29.64;VQSLOD=8.8273;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2078,165,0 8 90990479 90990479 C G exonic NBN nonsynonymous SNV NBN:NM_002485:exon5:c.G553C:p.E185Q,NBN:NM_001024688:exon6:c.G307C:p.E103Q 0.36 0.23 0.38 0.47 0.31 0.45 0.3453 0.2357 0.3451 0.4438 0.3549 0.3275 0.3664 0.4294 0.29 0.23 0.31 0.36 0.23 rs1805794 COSM3763443 1(pancreas);1(thyroid);1(large_intestine) Benign|Benign|Benign not_specified|Hereditary_cancer-predisposing_syndrome|Microcephaly\x2c_normal_intelligence_and_immunodeficiency RCV000121620.3|RCV000162358.2|RCV000374656.1 MedGen|MedGen:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0027672:699346009|C0398791:251260:ORPHA647:234638009 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.469 N 1.000 0.186 P -1.225 0.008 N 0.43 0.711 T 0.53 0.028 N 0.106 0.112 -0.961 0.391 T 0.000 0.000 T . . . 0.367 0.129 6.326 0.146 0.003 0.086 0.143 N c -0.822 -0.550 1.000 0.432 0.732 0.924 0 3.08 0.344 2.215 0.423 -0.887 0.027 1.000 0.715 0.980 0.490 13.939 0.634 Forkhead-associated (FHA) domain|SMAD/FHA domain ENSG00000104320.9|ENSG00000104320.9|ENSG00000104327.3|ENSG00000104320.9|ENSG00000104325.2|ENSG00000104320.9|ENSG00000104320.9|ENSG00000164823.5 Adipose_Subcutaneous|Artery_Tibial|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Muscle_Skeletal|Muscle_Skeletal|Testis|Whole_Blood 0.3472 0.2356 0.3498 0.3163 0.4548 0.3541 0.3247 0.3317 0.4290 0.3143 0.2339 0.3434 0.3344 0.4289 0.3604 0.3334 0.3531 hom 2473.11 88 8 90990479 . C G 2473.11 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.93;MQ0=0;QD=28.10;VQSLOD=7.8555;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2506,187,0 8 90995019 90995019 C T exonic NBN synonymous SNV NBN:NM_002485:exon2:c.G102A:p.L34L 0.38 0.31 0.38 0.47 0.31 0.45 0.3527 0.3136 0.3477 0.4446 0.3553 0.3283 0.3678 0.4297 0.31 0.31 0.31 0.4 0.24 rs1063045 COSM3763444 1(large_intestine) Benign|Benign|Benign Hereditary_cancer-predisposing_syndrome|not_specified|Microcephaly\x2c_normal_intelligence_and_immunodeficiency RCV000162359.1|RCV000242759.1|RCV000387572.1 MedGen:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C0027672:699346009|CN169374|C0398791:251260:ORPHA647:234638009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3536 0.3181 0.3542 0.3212 0.4548 0.3543 0.3254 0.3367 0.4292 0.3349 0.3063 0.3501 0.3367 0.4271 0.3603 0.3335 0.3541 hom 5247.55 186 8 90995019 . C T 5247.55 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.4610;MQ=58.52;MQ0=0;QD=28.21;VQSLOD=2.4423;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5247,403,0 8 92083424 92083424 A G exonic OTUD6B synonymous SNV OTUD6B:NM_016023:exon2:c.A231G:p.Q77Q 0.49 0.23 0.4 0.58 0.6 0.68 0.5453 0.2828 0.3206 0.5569 0.5792 0.5950 0.5872 0.6453 0.5 0.3 0.6 0.42 . rs11557571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5413 0.2764 0.3332 0.5468 0.5578 0.5772 0.5987 0.5539 0.6522 0.5034 0.2848 0.3573 0.57 0.5644 0.5782 0.6096 0.5625 hom 7085.46 218 8 92083424 . A G 7085.46 Mask AC=2;AF=1.00;AN=2;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6549;MQ=59.27;MQ0=0;QD=32.50;VQSLOD=9.3764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:7085,545,0 8 94808165 94808165 A G exonic TMEM67 nonsynonymous SNV TMEM67:NM_153704:exon18:c.A1810G:p.I604V,TMEM67:NM_001142301:exon19:c.A1567G:p.I523V 0.69 0.76 0.67 0.73 0.61 0.66 0.6369 0.7283 0.7448 0.7418 0.5809 0.5993 0.5991 0.6254 0.64 0.73 0.59 0.75 0.65 rs3134031 COSM3763456;COSM3763455;COSM3763454 1(large_intestine) other|Benign|Benign|Benign not_specified|Joubert_syndrome|Meckel-Gruber_syndrome|Nephronophthisis RCV000114244.3|RCV000278248.1|RCV000323495.1|RCV000378100.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004|C0265215:ORPHA564:29076005|C0687120:204958008 . . . . . . 0.482 0.106 T 0.0 0.026 B 0.0 0.013 B 0.636 0.106 N 1 0.090 P -1.5 0.005 N -3.99 0.963 D 0.39 0.035 N 0.006 0.021 -0.947 0.415 T 0.000 0.000 T . . . -0.090 0.085 1.807 0.711 0.092 0.008 0.033 N c -1.232 -1.144 0.000 0.044 0.651 0.465 0 0.316 0.150 0.282 0.184 -0.366 0.067 0.000 0.063 0.827 0.345 4.972 0.134 . ENSG00000183808.7|ENSG00000253848.1 Artery_Coronary|Testis 0.6392 0.7337 0.7400 0.6593 0.7325 0.5737 0.5977 0.6282 0.6235 0.6453 0.7365 0.7105 0.6490 0.7246 0.5687 0.5997 0.6145 het 1191.19 122 8 94808165 . A G 1191.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.730;DP=122;Dels=0.00;FS=4.486;HRun=0;HaplotypeScore=6.7934;MQ=58.84;MQ0=0;MQRankSum=-0.515;QD=9.76;ReadPosRankSum=-0.562;VQSLOD=4.4052;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,52:122:99:1221,0,1728 8 95143172 95143172 T G exonic CDH17 nonsynonymous SNV CDH17:NM_001144663:exon16:c.A2216C:p.E739A,CDH17:NM_004063:exon16:c.A2216C:p.E739A 0.44 0.28 0.39 0.53 0.57 0.48 0.5121 0.3009 0.4063 0.5463 0.6119 0.5603 0.5132 0.4658 0.47 0.31 0.56 0.39 0.53 rs1051624 COSM5424411 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.704 0.042 T 0.128 0.254 B 0.101 0.292 B 0.407 0.046 N 1 0.090 P 1.735 0.450 L 1.13 0.386 T -0.51 0.160 N 0.034 0.080 -0.934 0.436 T 0.000 0.000 T . . . -0.715 0.044 0.066 0.145 0.003 0.018 0.055 N c -1.248 -1.259 0.000 0.029 0.516 0.203 0 0.449 0.158 0.369 0.200 -0.292 0.083 0.013 0.187 0.001 0.043 3.315 0.066 Cadherin-like;Cadherin|Cadherin-like . . 0.5134 0.2999 0.4028 0.5590 0.5491 0.6082 0.5618 0.4916 0.4651 0.5030 0.3013 0.4221 0.5728 0.5492 0.6090 0.5887 0.5765 hom 3627.02 115 8 95143172 . T G 3627.02 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.54;VQSLOD=14.2375;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3626,295,0 8 95143186 95143186 C G exonic CDH17 nonsynonymous SNV CDH17:NM_001144663:exon16:c.G2202C:p.E734D,CDH17:NM_004063:exon16:c.G2202C:p.E734D 0.78 0.85 0.78 0.69 0.82 0.76 0.8040 0.8432 0.7575 0.6923 0.8057 0.8328 0.8007 0.7528 0.83 0.85 0.83 0.75 0.81 rs1051623 COSM3763457 1(large_intestine) . . . . . . . . . . . 0.916 0.051 T 0.0 0.026 B 0.001 0.040 B 0.634 0.058 N 1 0.090 P -1.315 0.007 N 0.47 0.565 T -0.01 0.072 N 0.021 0.010 -0.982 0.345 T 0.000 0.000 T . . . 0.005 0.094 2.635 0.220 0.009 0.004 0.021 N c -1.190 -1.013 0.000 0.035 0.516 0.203 0 2.43 0.287 1.135 0.309 0.101 0.200 0.896 0.311 0.749 0.321 5.829 0.177 Cadherin-like;Cadherin|Cadherin-like . . 0.8042 0.8490 0.7716 0.8301 0.6967 0.8106 0.8349 0.7983 0.7542 0.8285 0.8477 0.7907 0.7980 0.6826 0.8147 0.8386 0.8310 hom 3625.47 110 8 95143186 . C G 3625.47 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=32.96;VQSLOD=8.1129;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3625,283,0 8 95158382 95158382 C T exonic CDH17 synonymous SNV CDH17:NM_001144663:exon15:c.G1941A:p.L647L,CDH17:NM_004063:exon15:c.G1941A:p.L647L 0.43 0.27 0.38 0.53 0.55 0.47 0.5033 0.2931 0.3977 0.5472 0.6020 0.5420 0.5034 0.4897 0.46 0.3 0.54 0.37 0.48 rs1131830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5202 0.3032 0.4328 0.5791 0.5617 0.6055 0.5527 0.5076 0.4798 0.4896 0.2929 0.4113 0.5567 0.5590 0.6014 0.5686 0.5647 hom 2954.80 103 8 95158382 . C T 2954.80 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8216;MQ=58.57;MQ0=0;QD=28.69;VQSLOD=8.2569;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:2988,235,0 8 95186382 95186382 G A exonic CDH17 synonymous SNV CDH17:NM_001144663:exon6:c.C531T:p.V177V,CDH17:NM_004063:exon6:c.C531T:p.V177V 0.35 0.23 0.28 0.32 0.44 0.48 0.4017 0.2396 0.2063 0.3025 0.3607 0.4609 0.3874 0.4703 0.39 0.24 0.47 0.34 0.44 rs3214050 COSM150505 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3957 0.2371 0.2181 0.4661 0.3009 0.3572 0.4659 0.4136 0.4701 0.3604 0.2404 0.2326 0.5497 0.3071 0.3514 0.4393 0.3945 het 2964.07 235 8 95186382 . G A 2964.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.337;DP=235;DS;Dels=0.00;FS=0.478;HRun=1;HaplotypeScore=1.5678;MQ=59.17;MQ0=0;MQRankSum=0.335;QD=12.61;ReadPosRankSum=0.927;VQSLOD=6.7289;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,111:235:99:2994,0,3579 8 95188850 95188850 T C exonic CDH17 nonsynonymous SNV CDH17:NM_001144663:exon5:c.A343G:p.K115E,CDH17:NM_004063:exon5:c.A343G:p.K115E 0.8 0.95 0.78 0.64 0.78 0.82 0.7754 0.9262 0.7211 0.6203 0.6971 0.7806 0.7489 0.8104 0.83 0.92 0.79 0.83 0.77 rs2243518 . . . . . . . . . . . . . 0.454 0.195 T 0.0 0.026 B 0.001 0.040 B 0.000 0.559 N 0.996 0.232 P -0.075 0.048 N 0.15 0.608 T 0.89 0.070 N 0.05 0.437 -0.960 0.392 T 0.000 0.000 T . . . 1.014 0.191 10.74 0.909 0.196 0.153 0.186 N c -0.612 -0.357 0.000 0.048 0.516 0.203 0 4.12 0.473 0.126 0.155 0.069 0.176 0.787 0.293 1.000 0.888 4.333 0.104 Cadherin|Cadherin conserved site|Cadherin-like . . 0.7694 0.9276 0.7327 0.7572 0.6236 0.6897 0.7870 0.7729 0.8099 0.7995 0.9269 0.7285 0.8046 0.6042 0.6911 0.7773 0.7709 het 1250.22 98 8 95188850 . T C 1250.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.940;DP=98;Dels=0.00;FS=3.991;HRun=0;HaplotypeScore=8.8859;MQ=58.60;MQ0=0;MQRankSum=0.574;QD=12.76;ReadPosRankSum=1.145;VQSLOD=4.4382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,51:98:99:1280,0,1237 8 95272605 95272605 G C exonic GEM nonsynonymous SNV GEM:NM_005261:exon2:c.C127G:p.R43G,GEM:NM_181702:exon2:c.C127G:p.R43G 0.11 0.092 0.058 0.14 0.12 0.14 0.1266 0.0968 0.0509 0.1204 0.1111 0.1390 0.1222 0.1577 0.13 0.11 0.14 0.054 0.11 rs2170363 . . . . . . . . . . . . . 0.451 0.339 T 0.0 0.026 B 0.0 0.013 B 0.442 0.126 N 1.000 0.090 P 1.795 0.474 L -0.11 0.645 T -0.87 0.734 N 0.101 0.466 -1.024 0.226 T 0.002 0.007 T . . . 0.967 0.186 10.47 0.689 0.085 0.938 0.590 D c -0.260 -0.172 1.000 0.747 0.660 0.495 0 5.28 0.740 7.626 0.822 1.048 0.713 0.997 0.399 0.003 0.074 18.930 0.925 . . . 0.1224 0.0931 0.0538 0.1495 0.1240 0.1123 0.1363 0.1258 0.1588 0.1178 0.0911 0.0600 0.1467 0.1224 0.1189 0.1336 0.1411 het 919.21 75 8 95272605 . G C 919.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.465;DP=75;Dels=0.00;FS=4.904;HRun=1;HaplotypeScore=5.4349;MQ=58.88;MQ0=0;MQRankSum=1.595;QD=12.26;ReadPosRankSum=-1.855;VQSLOD=3.5476;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,38:75:99:949,0,906 8 95680229 95680229 C T exonic ESRP1 synonymous SNV ESRP1:NM_001034915:exon10:c.C984T:p.V328V,ESRP1:NM_001122825:exon10:c.C984T:p.V328V,ESRP1:NM_001122826:exon10:c.C984T:p.V328V,ESRP1:NM_001122827:exon10:c.C984T:p.V328V,ESRP1:NM_017697:exon10:c.C984T:p.V328V 0.35 0.051 0.38 0.54 0.39 0.51 0.4026 0.0955 0.4600 0.5909 0.3826 0.3900 0.4103 0.5065 0.29 0.11 0.38 0.29 . rs1549466 COSM3763462;COSM3763463 2(haematopoietic_and_lymphoid_tissue);15(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4015 0.0899 0.4396 0.4195 0.5886 0.3805 0.3817 0.3987 0.4912 0.3138 0.0955 0.4315 0.4272 0.5978 0.3895 0.3798 0.3765 het 1180.22 88 8 95680229 . C T 1180.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.329;DP=88;Dels=0.00;FS=3.053;HRun=1;HaplotypeScore=2.1992;MQ=59.48;MQ0=0;MQRankSum=-0.647;QD=13.41;ReadPosRankSum=-0.815;VQSLOD=6.3488;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,46:88:99:1210,0,1196 8 95690579 95690579 T C exonic ESRP1 synonymous SNV ESRP1:NM_001034915:exon13:c.T1788C:p.N596N,ESRP1:NM_001122825:exon13:c.T1800C:p.N600N,ESRP1:NM_001122826:exon13:c.T1788C:p.N596N,ESRP1:NM_001122827:exon13:c.T1788C:p.N596N,ESRP1:NM_017697:exon13:c.T1800C:p.N600N 0.49 0.19 0.53 0.54 0.62 0.69 0.5759 0.2591 0.5615 0.5875 0.5646 0.6003 0.5978 0.6725 0.49 0.27 0.6 0.4 . rs12677519 COSM3982619;COSM3982620 2(haematopoietic_and_lymphoid_tissue);18(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5761 0.2462 0.5510 0.6135 0.5848 0.5633 0.6001 0.5875 0.6709 0.4932 0.2587 0.5467 0.5993 0.5946 0.5736 0.5889 0.5774 het 1647.99 97 8 95690579 . T C 1647.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.287;DP=97;Dels=0.00;FS=5.354;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=-0.200;QD=16.99;ReadPosRankSum=0.306;VQSLOD=5.7680;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,63:97:99:1678,0,806 8 95877787 95877787 T C exonic INTS8 synonymous SNV INTS8:NM_017864:exon17:c.T2130C:p.S710S 0.57 0.45 0.62 0.66 0.54 0.62 0.5499 0.5001 0.6762 0.6588 0.5259 0.5063 0.5694 0.6202 0.51 0.49 0.51 0.47 0.63 rs713113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5557 0.4984 0.6523 0.5588 0.6491 0.5261 0.5086 0.5563 0.6177 0.5176 0.4918 0.6304 0.5099 0.6448 0.5212 0.5122 0.5133 het 2702.74 200 8 95877787 . T C 2702.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.816;DP=200;Dels=0.00;FS=3.528;HRun=0;HaplotypeScore=1.8675;MQ=59.37;MQ0=0;MQRankSum=0.838;QD=13.51;ReadPosRankSum=-0.182;VQSLOD=6.5926;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:106,94:200:99:2733,0,2739 8 95888307 95888307 C T exonic INTS8 synonymous SNV INTS8:NM_017864:exon24:c.C2694T:p.A898A 0.47 0.25 0.53 0.65 0.46 0.55 0.4544 0.2833 0.6235 0.6543 0.4201 0.4085 0.4678 0.5345 0.37 0.27 0.41 0.4 0.27 rs1129152 COSM3763465 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4618 0.2773 0.5950 0.4126 0.6451 0.4227 0.4116 0.4641 0.5308 0.3922 0.2882 0.5552 0.3742 0.6417 0.4203 0.4096 0.4053 het 1209.86 117 8 95888307 . C T 1209.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DP=117;Dels=0.00;FS=1.515;HRun=0;HaplotypeScore=0.5784;MQ=58.23;MQ0=0;MQRankSum=0.764;QD=10.34;ReadPosRankSum=-1.326;VQSLOD=5.0904;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,47:117:99:1240,0,1746 8 97614661 97614661 T A exonic SDC2 nonsynonymous SNV SDC2:NM_002998:exon3:c.T211A:p.S71T 0.24 0.39 0.16 0.23 0.17 0.16 0.1849 0.3843 0.0961 0.2130 0.1550 0.1801 0.1711 0.1390 0.25 0.38 0.18 0.3 0.16 rs1042381 COSM150509 1(haematopoietic_and_lymphoid_tissue);1(stomach);9(soft_tissue);2(prostate);1(large_intestine) . . . . . . . . . . . 0.272 0.329 T 0.722 0.404 P 0.393 0.425 B 0.009 0.307 N 0.024 0.392 P 2.205 0.624 M 1.02 0.407 T -0.74 0.249 N 0.081 0.362 -0.947 0.416 T 0.000 0.000 T . . . 2.452 0.356 19.16 0.990 0.495 0.862 0.451 D c 0.133 0.184 0.471 0.207 0.707 0.730 0 3.79 0.426 2.306 0.431 0.964 0.580 1.000 0.715 0.840 0.350 6.651 0.220 . . . 0.1785 0.3918 0.1034 0.1709 0.2139 0.1556 0.1830 0.1758 0.1378 0.2358 0.3846 0.1053 0.1722 0.2416 0.1504 0.1813 0.1762 hom 5622.52 180 8 97614661 . T A 5622.52 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5868;MQ=59.17;MQ0=0;QD=31.24;VQSLOD=8.3839;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5622,451,0 8 97847358 97847358 G T exonic CPQ synonymous SNV CPQ:NM_016134:exon3:c.G591T:p.V197V 0.61 0.32 0.66 0.88 0.61 0.69 0.6295 0.3876 0.6134 0.8867 0.5088 0.6325 0.6074 0.6975 0.56 0.4 0.65 0.6 0.63 rs1864384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6289 0.3825 0.6169 0.6016 0.8869 0.5044 0.6408 0.6140 0.6893 0.5462 0.3835 0.6295 0.6324 0.8999 0.4914 0.6058 0.5980 hom 2351.03 78 8 97847358 . G T 2351.03 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.641;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5226;MQ=59.65;MQ0=0;MQRankSum=0.365;QD=30.14;ReadPosRankSum=0.775;VQSLOD=9.2420;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,77:78:99:2384,187,0 8 98289986 98289986 C T exonic TSPYL5 synonymous SNV TSPYL5:NM_033512:exon1:c.G87A:p.P29P 0.58 0.39 0.66 0.63 0.63 0.7 0.6848 0.4932 0.7295 0.6525 0.6679 0.6903 0.6967 0.7429 0.59 0.43 0.67 0.52 0.48 rs28669903 COSM3750140 1(thyroid);8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6658 0.4356 0.7189 0.7488 0.6335 0.6217 0.6609 0.6942 0.7165 0.5807 0.4181 0.7278 0.7086 0.6130 0.6085 0.6522 0.6119 het 179.28 11 8 98289986 . C T 179.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.296;QD=16.30;ReadPosRankSum=0.731;VQSLOD=12.5353;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,7:11:59.26:209,0,59 8 98656966 98656966 G T exonic MTDH nonsynonymous SNV MTDH:NM_178812:exon1:c.G232T:p.A78S 0.025 0.0008 0.027 . 0.055 0.05 0.0543 0.0086 0.0257 0.0002 0.0641 0.0703 0.0566 0.0580 0.036 0.01 0.049 0.033 0.033 rs17854373 COSM454990 6(large_intestine) . . . . . . . . . . . 0.214 0.193 T 0.995 0.657 D 0.888 0.612 P 0.042 0.239 N 0.984 0.412 D 1.155 0.297 L 2.88 0.103 T -1.11 0.287 N 0.09 0.215 -1.164 0.007 T 0.007 0.023 T . . . 5.076 0.684 25.3 0.996 0.720 0.574 0.301 D c 0.527 0.562 1.000 0.747 0.442 0.072 0 5.48 0.806 3.659 0.540 0.998 0.613 1.000 0.715 1.000 0.888 17.133 0.865 . . . 0.0511 0.0099 0.0272 0.0609 0.0003 0.0556 0.0642 0.0556 0.0583 0.0431 0.0099 0.0192 0.0728 0 0.0547 0.0635 0.0694 het 299.66 22 8 98656966 . G T 299.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.959;DP=22;Dels=0.00;FS=9.332;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=-0.959;QD=13.62;ReadPosRankSum=1.386;VQSLOD=3.6095;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:330,0,207 8 98703317 98703317 A G exonic MTDH nonsynonymous SNV MTDH:NM_178812:exon6:c.A949G:p.T317A 0.025 0.0008 0.03 . 0.062 0.044 0.0515 0.0095 0.0259 0.0002 0.0709 0.0670 0.0540 0.0517 0.045 0.014 0.061 0.033 0.049 rs17854374 COSM5002093 2(pancreas) . . . . . . . . . . . 0.374 0.147 T 0.0 0.026 B 0.001 0.040 B 0.948 0.083 N 0.998 0.287 N 0.46 0.130 N 0.96 0.429 T -1.33 0.332 N 0.16 0.192 -1.050 0.143 T 0.008 0.029 T . . . 0.270 0.120 5.403 0.897 0.184 0.154 0.187 N c -0.888 -0.767 0.079 0.158 0.707 0.730 0 0.932 0.185 0.087 0.147 -0.119 0.114 0.134 0.232 0.984 0.507 8.582 0.326 . . . 0.0505 0.0095 0.0256 0.0587 0.0002 0.0704 0.0660 0.0562 0.0524 0.0491 0.0109 0.0227 0.0762 0 0.0658 0.0720 0.0733 het 1851.94 140 8 98703317 . A G 1851.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.685;DP=140;Dels=0.00;FS=3.116;HRun=0;HaplotypeScore=3.4379;MQ=59.40;MQ0=0;MQRankSum=1.291;QD=13.23;ReadPosRankSum=-1.864;VQSLOD=4.7027;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,72:140:99:1882,0,1792 8 98788261 98788261 G T exonic LAPTM4B synonymous SNV LAPTM4B:NM_018407:exon1:c.G297T:p.T99T 0.084 0.06 0.091 . 0.15 0.13 0.1342 0.0709 0.0719 0.0005 0.1321 0.1683 0.1584 0.1453 0.12 0.059 0.16 0.043 0.19 rs2449508 COSM1569493 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1278 0.0601 0.0709 0.2432 0.0003 0.1133 0.1580 0.1456 0.1409 0.1091 0.0556 0.0835 0.1946 0.0019 0.1107 0.1491 0.1404 het 656.73 47 8 98788261 . G T 656.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.207;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;MQRankSum=0.117;QD=13.97;ReadPosRankSum=-0.181;VQSLOD=6.2089;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,25:47:99:687,0,492 8 98991221 98991221 A G exonic MATN2 nonsynonymous SNV MATN2:NM_001317748:exon6:c.A1066G:p.K356E,MATN2:NM_002380:exon6:c.A1066G:p.K356E,MATN2:NM_030583:exon6:c.A1066G:p.K356E 0.41 0.37 0.44 0.29 0.66 0.32 0.5363 0.4181 0.4027 0.2717 0.5705 0.6408 0.5570 0.3990 0.59 0.45 0.66 0.42 . rs1869609 . . . . . . . . . . . . . 0.561 0.351 T 0.002 0.119 B 0.019 0.203 B 0.044 0.237 N 0.717 0.299 P 1.03 0.257 L -4.03 0.964 D -1.75 0.454 N 0.24 0.344 -0.952 0.406 T 0.000 0.000 T . . . 0.278 0.121 5.477 0.938 0.231 0.075 0.133 N c -1.058 -1.082 0.998 0.369 0.693 0.558 0 -2.27 0.064 0.100 0.150 0.139 0.223 0.015 0.189 0.972 0.466 5.163 0.143 EGF-like domain|EGF-like\x2c conserved site;EGF-like domain|EGF-like\x2c conserved site|Growth factor receptor cysteine-rich domain;von Willebrand factor\x2c type A . . 0.5373 0.4156 0.4219 0.6009 0.2768 0.5711 0.6513 0.5700 0.4019 0.5501 0.4177 0.4569 0.6367 0.2888 0.5919 0.6484 0.5594 hom 4319.22 139 8 98991221 . A G 4319.22 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=31.07;VQSLOD=9.5853;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4319,328,0 8 99030280 99030280 T C exonic MATN2 synonymous SNV MATN2:NM_001317748:exon11:c.T1632C:p.D544D,MATN2:NM_002380:exon12:c.T1755C:p.D585D,MATN2:NM_030583:exon12:c.T1755C:p.D585D 0.65 0.84 0.74 0.43 0.72 0.51 0.6787 0.8302 0.6776 0.3880 0.6854 0.7240 0.6615 0.5561 0.79 0.84 0.76 0.67 . rs2248014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6797 0.8281 0.6884 0.6205 0.3939 0.6888 0.7377 0.6781 0.5591 0.7359 0.8231 0.6950 0.69 0.4123 0.6983 0.7330 0.7178 hom 7828.63 250 8 99030280 . T C 7828.63 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4176;MQ=59.65;MQ0=0;QD=31.31;VQSLOD=7.9514;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7827,665,0 8 99148791 99148791 A G exonic POP1 nonsynonymous SNV POP1:NM_001145860:exon8:c.A1093G:p.T365A,POP1:NM_001145861:exon8:c.A1093G:p.T365A,POP1:NM_015029:exon8:c.A1093G:p.T365A . . . . . . 0.0001 0.0002 0.0003 0 0 0.0002 0 0 0.0002 . 0.0002 . . rs200569474 . . . . . . . . . . . . . 0.047 0.403 D 0.011 0.147 B 0.009 0.133 B 0.165 0.175 N 1 0.090 N 1.64 0.420 L 1.22 0.370 T -1.26 0.318 N 0.035 0.019 -0.976 0.359 T 0.065 0.268 T 0.006 0.154 T -0.709 0.044 0.069 0.712 0.093 0.195 0.205 N c -1.110 -1.167 0.041 0.145 0.707 0.730 0 -1.03 0.095 0.589 0.235 0.238 0.266 0.001 0.137 0.001 0.043 3.493 0.072 . . . 0.0001 0.0001 0.0003 0 0 0 0.0002 0 0 6.46e-05 0 0 0 0 0 0.0001 0 het 2401.06 226 8 99148791 . A G 2401.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.470;DP=226;Dels=0.00;FS=0.491;HRun=0;HaplotypeScore=8.4417;MQ=59.14;MQ0=0;MQRankSum=1.666;QD=10.62;ReadPosRankSum=0.013;VQSLOD=2.6786;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,96:226:99:2431,0,3053 8 99208190 99208190 A C exonic NIPAL2 synonymous SNV NIPAL2:NM_001321635:exon9:c.T924G:p.T308T,NIPAL2:NM_001321636:exon9:c.T924G:p.T308T,NIPAL2:NM_024759:exon9:c.T924G:p.T308T 0.41 0.3 0.48 0.43 0.35 0.53 0.3896 0.3047 0.4793 0.4633 0.4046 0.3485 0.3951 0.4994 0.34 0.31 0.36 0.42 0.27 rs3779721 COSM3763472 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3926 0.2972 0.4710 0.4349 0.4544 0.4133 0.3402 0.3641 0.4944 0.3546 0.3100 0.4702 0.4636 0.4715 0.4001 0.3475 0.3727 het 446.84 45 8 99208190 . A C 446.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.113;DP=45;Dels=0.00;FS=4.300;HRun=1;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;MQRankSum=-1.108;QD=9.93;ReadPosRankSum=0.811;VQSLOD=5.0624;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,20:45:99:477,0,573 8 100133706 100133706 T G exonic VPS13B stopgain VPS13B:NM_181661:exon8:c.T1239G:p.Y413X 0.71 0.71 0.58 0.53 0.79 0.88 0.7503 0.6865 0.4938 0.5476 0.7857 0.7980 0.7561 0.8689 0.76 0.68 0.79 0.69 0.7 rs7460625 . . Benign not_specified RCV000245799.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . 1.000 0.090 P . . . . . . . . . . . . . . . . . . . . 0.080 0.101 3.397 0.874 0.167 0.121 0.169 N c -0.817 -0.909 0.001 0.080 0.372 0.050 0 3.32 0.370 0.239 0.177 -0.394 0.063 0.000 0.063 0.000 0.016 4.265 0.101 . . . 0.7399 0.6851 0.5053 0.8164 0.5453 0.7790 0.7972 0.7533 0.8716 0.7491 0.6862 0.5656 0.8609 0.5577 0.7719 0.8061 0.7923 hom 4571.48 144 8 100133706 . T G 4571.48 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.708;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1908;MQ=59.42;MQ0=0;MQRankSum=-1.588;QD=31.75;ReadPosRankSum=-1.516;VQSLOD=8.5322;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,143:144:99:4571,349,0 8 100844758 100844758 T C exonic VPS13B synonymous SNV VPS13B:NM_017890:exon52:c.T9567C:p.S3189S,VPS13B:NM_152564:exon52:c.T9492C:p.S3164S 0.2 0.051 0.35 0.35 0.17 0.15 0.1926 0.0757 0.4053 0.3477 0.1748 0.1655 0.1918 0.1536 0.14 0.083 0.17 0.14 0.15 rs36074608 COSM3982313;COSM3982312 2(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Cohen_syndrome RCV000081923.9|RCV000366445.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0265223:216550:ORPHA193:56604005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2050 0.0748 0.4018 0.1356 0.3543 0.1707 0.1688 0.1842 0.1539 0.1510 0.0737 0.3702 0.1225 0.3532 0.1790 0.1558 0.1531 hom 2223.43 66 8 100844758 . T C 2223.43 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7985;MQ=59.43;MQ0=0;QD=33.69;VQSLOD=8.1639;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:66:99:2256,175,0 8 100994274 100994274 A G exonic RGS22 nonsynonymous SNV RGS22:NM_001286693:exon20:c.T2708C:p.I903T,RGS22:NM_001286692:exon22:c.T3215C:p.I1072T,RGS22:NM_015668:exon22:c.T3251C:p.I1084T . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 0.721 D 0.999 0.764 D 0.996 0.832 D 0.000 0.843 D 0.985 0.402 D 2.62 0.769 M 1.55 0.299 T -3.87 0.736 D 0.987 0.991 -0.731 0.589 T 0.185 0.534 T 0.090 0.755 D 6.084 0.838 28.2 0.999 0.952 0.988 0.869 D c 0.767 0.741 0.997 0.354 0.487 0.133 0 5.18 0.710 8.468 0.902 1.028 0.649 1.000 0.715 0.986 0.517 15.018 0.711 RGS domain . . . . . . . . . . . . . . . . . . . het 2356.17 153 8 100994274 . A G 2356.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.601;DP=153;DS;Dels=0.00;FS=3.260;HRun=0;HaplotypeScore=0.8667;MQ=59.14;MQ0=0;MQRankSum=-0.649;QD=15.40;ReadPosRankSum=-0.196;VQSLOD=4.5416;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,81:153:99:2386,0,1942 8 101153024 101153024 G A exonic FBXO43 synonymous SNV FBXO43:NM_001029860:exon2:c.C1458T:p.I486I 0.66 0.73 0.69 0.73 0.56 0.57 0.6016 0.7003 0.7655 0.7047 0.5724 0.5527 0.5778 0.5851 0.59 0.7 0.55 0.55 0.53 rs1460934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6033 0.7043 0.7476 0.5331 0.6979 0.5699 0.5490 0.5999 0.5873 0.6063 0.6983 0.7200 0.5265 0.7033 0.5908 0.5424 0.5891 hom 6698.69 230 8 101153024 . G A 6698.69 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.597;DP=230;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6875;MQ=59.19;MQ0=0;MQRankSum=0.572;QD=29.12;ReadPosRankSum=0.422;VQSLOD=7.6117;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,229:230:99:6667,478,0 8 101206391 101206391 G A exonic SPAG1 nonsynonymous SNV SPAG1:NM_003114:exon10:c.G991A:p.E331K,SPAG1:NM_172218:exon10:c.G991A:p.E331K 0.15 0.054 0.24 0.073 0.21 0.24 0.1986 0.0723 0.2176 0.0558 0.2595 0.2143 0.2333 0.2489 0.16 0.076 0.2 0.11 0.18 rs17335870 COSM3762953 1(thyroid);1(large_intestine) Benign not_specified RCV000241694.1 MedGen CN169374 . . . . . . 0.939 0.022 T 0.0 0.026 B 0.0 0.013 B 0.074 0.213 N 1 0.090 P -1.525 0.005 N -0.79 0.737 T 1.01 0.014 N 0.019 0.015 -1.069 0.097 T 0.000 0.000 T . . . -0.633 0.048 0.104 0.215 0.008 0.013 0.046 N c -1.532 -1.441 0.001 0.082 0.615 0.372 0 -1.58 0.080 0.411 0.207 -0.579 0.045 0.112 0.228 0.100 0.189 7.684 0.275 Tetratricopeptide-like helical domain ENSG00000104450.8|ENSG00000104450.8 Brain_Cerebellum|Testis 0.1894 0.0674 0.1934 0.2134 0.0510 0.2451 0.2016 0.2155 0.2296 0.1756 0.0777 0.2141 0.2351 0.0481 0.2715 0.2177 0.2244 het 561.38 44 8 101206391 . G A 561.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.632;DP=44;Dels=0.00;FS=2.614;HRun=1;HaplotypeScore=1.9950;MQ=56.51;MQ0=0;MQRankSum=-0.446;QD=12.76;ReadPosRankSum=0.869;VQSLOD=3.7498;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,21:44:99:591,0,575 8 101206459 101206459 - GAC exonic SPAG1 nonframeshift insertion SPAG1:NM_003114:exon10:c.1059_1060insGAC:p.K353_S354insD,SPAG1:NM_172218:exon10:c.1059_1060insGAC:p.K353_S354insD 0.15 0.054 0.24 0.073 0.21 0.23 0.1991 0.0729 0.2171 0.0561 0.2579 0.2146 0.2336 0.2508 0.16 0.075 0.2 0.11 0.2 rs56246127 COSM4603094 1(pancreas);6(upper_aerodigestive_tract);1(large_intestine);2(central_nervous_system) Benign|Benign Ciliary_dyskinesia\x2c_primary\x2c_28|not_specified RCV000205387.1|RCV000242254.1 MedGen:OMIM|MedGen C3809706:615505|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1946 0.0683 0.2059 0.2209 0.0526 0.2472 0.2035 0.2273 0.2410 0.1750 0.0775 0.2165 0.2351 0.0481 0.2700 0.2167 0.2245 het 1231.33 57 8 101206459 . A AGAC 1231.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.899;DP=57;FS=0.000;HRun=0;HaplotypeScore=200.2012;MQ=56.04;MQ0=0;MQRankSum=-1.385;QD=21.60;ReadPosRankSum=-0.670;set=variant2 GT:AD:DP:GQ:PL 0/1:39,17:57:99:1270,0,1675 8 101252680 101252680 T C exonic SPAG1 nonsynonymous SNV SPAG1:NM_003114:exon18:c.T2330C:p.M777T,SPAG1:NM_172218:exon18:c.T2330C:p.M777T 0.63 0.72 0.72 0.53 0.62 0.54 0.6179 0.6990 0.7212 0.5067 0.6175 0.6158 0.5971 0.5626 0.64 0.69 0.61 0.59 0.64 rs6511 COSM150515 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(oesophagus);2(prostate);2(large_intestine) Benign not_specified RCV000241788.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.189 0.032 N 1 0.090 P -1.6 0.004 N 0.26 0.593 T 2.26 0.003 N 0.003 0.000 -0.994 0.317 T 0.000 0.000 T . . . -2.046 0.007 0.001 0.162 0.004 0.008 0.034 N c -1.690 -1.637 0.726 0.230 0.563 0.310 0 -3.7 0.041 -0.210 0.093 -0.318 0.077 0.000 0.063 0.000 0.016 4.563 0.115 . ENSG00000104450.8|ENSG00000034677.7|ENSG00000104450.8|ENSG00000104450.8|ENSG00000034677.7|ENSG00000104450.8|ENSG00000034677.7|ENSG00000034677.7|ENSG00000104450.8|ENSG00000104450.8 Adipose_Subcutaneous|Adrenal_Gland|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Testis|Thyroid|Whole_Blood 0.6184 0.6971 0.7206 0.5754 0.5014 0.6154 0.6153 0.6222 0.5601 0.6297 0.6991 0.6950 0.5695 0.5106 0.6347 0.5989 0.6232 hom 3068.99 107 8 101252680 . T C 3068.99 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7776;MQ=59.77;MQ0=0;QD=28.68;VQSLOD=7.9268;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3102,259,0 8 101253184 101253184 G A exonic SPAG1 synonymous SNV SPAG1:NM_003114:exon19:c.G2715A:p.S905S,SPAG1:NM_172218:exon19:c.G2715A:p.S905S 0.3 0.028 0.4 0.51 0.37 0.3 0.3542 0.0770 0.4977 0.4906 0.3316 0.3717 0.3260 0.2965 0.27 0.085 0.37 0.2 0.34 rs1788190 COSM3762954 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000246772.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3629 0.0707 0.4922 0.3392 0.4837 0.3374 0.3712 0.3459 0.2990 0.2797 0.0759 0.4719 0.3221 0.4894 0.3320 0.3500 0.3372 het 1947.37 120 8 101253184 . G A 1947.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.903;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6884;MQ=57.11;MQ0=0;MQRankSum=0.855;QD=16.23;ReadPosRankSum=-0.570;VQSLOD=3.7858;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,73:120:99:1977,0,1156 8 101540153 101540153 A G exonic ANKRD46 synonymous SNV ANKRD46:NM_001270377:exon4:c.T390C:p.S130S,ANKRD46:NM_001270378:exon4:c.T390C:p.S130S,ANKRD46:NM_001270379:exon4:c.T390C:p.S130S,ANKRD46:NM_198401:exon5:c.T390C:p.S130S 0.02 0.0015 0.013 0.006 0.061 0.025 0.0566 0.0120 0.0158 0.0038 0.1216 0.0761 0.0606 0.0359 0.049 0.014 0.066 0.011 0.049 rs11555216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0554 0.0116 0.0157 0.0686 0.0032 0.1170 0.0731 0.0593 0.0357 0.0640 0.0116 0.0204 0.08 0.0049 0.1194 0.0893 0.0797 het 1520.85 120 8 101540153 . A G 1520.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.116;DP=120;Dels=0.00;FS=0.730;HRun=1;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;MQRankSum=-0.817;QD=12.67;ReadPosRankSum=0.449;VQSLOD=4.6969;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,62:120:99:1551,0,1476 8 101586133 101586133 T C exonic SNX31 nonsynonymous SNV SNX31:NM_152628:exon14:c.A1283G:p.D428G 0.41 0.55 0.37 0.28 0.44 0.37 0.4182 0.5324 0.4469 0.2944 0.4448 0.4226 0.4237 0.3616 0.46 0.53 0.43 0.37 0.37 rs2022923 COSM453749 1(large_intestine) . . . . . . . . . . . 0.522 0.072 T 0.0 0.026 B 0.001 0.040 B 0.144 0.029 N 1 0.090 P -0.145 0.044 N 2.24 0.233 T -0.24 0.138 N 0.303 0.363 -0.976 0.360 T 0.000 0.000 T . . . -0.213 0.075 1.031 0.663 0.078 0.037 0.089 N c -1.377 -1.509 1.000 0.747 0.526 0.212 0 -11.0 0.001 -0.756 0.048 -1.363 0.012 0.000 0.063 0.018 0.130 3.768 0.081 . ENSG00000251013.1 Cells_Transformed_fibroblasts 0.4090 0.5168 0.4440 0.3683 0.2775 0.4396 0.4180 0.4116 0.3479 0.4519 0.5335 0.4826 0.3624 0.3133 0.4314 0.4252 0.4327 het 1475.58 138 8 101586133 . T C 1475.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.616;DP=138;Dels=0.00;FS=0.647;HRun=1;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;MQRankSum=0.699;QD=10.69;ReadPosRankSum=0.046;VQSLOD=5.6869;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,60:138:99:1506,0,1879 8 101625248 101625248 C T exonic SNX31 synonymous SNV SNX31:NM_152628:exon6:c.G498A:p.R166R 0.0006 0.0008 . . 0.002 . 0.0019 0.0010 0.0003 0 0.0005 0.0031 0.0022 0.0001 0.0035 0.0009 0.0048 . . rs145842613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0021 0.0010 0.0008 0.0008 0 0.0009 0.0038 0.0018 0.0001 0.0024 0.0008 0.0036 0 0 0.0003 0.0041 0.0010 het 1659.85 172 8 101625248 . C T 1659.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.419;DP=172;Dels=0.00;FS=1.931;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=-0.180;QD=9.65;ReadPosRankSum=0.498;VQSLOD=4.6310;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,71:172:99:1690,0,2799 8 101648164 101648164 C G exonic SNX31 nonsynonymous SNV SNX31:NM_152628:exon3:c.G217C:p.D73H 0.33 0.52 0.28 0.26 0.17 0.35 0.2472 0.4672 0.2380 0.2404 0.1626 0.2053 0.2390 0.3223 0.3 0.46 0.22 0.37 0.21 rs2187016 COSM3762956 2(large_intestine) . . . . . . . . . . . 0.021 0.491 D 0.81 0.434 P 0.715 0.528 P 0.131 0.186 N 0.460 0.320 P 1.865 0.494 L 1.53 0.358 T -2.35 0.519 N 0.345 0.406 -0.903 0.477 T 0.000 0.000 T . . . 4.705 0.631 24.6 0.990 0.492 0.477 0.278 N c -0.116 -0.133 0.001 0.082 0.554 0.246 0 1.95 0.250 0.298 0.187 -0.337 0.073 0.859 0.304 0.928 0.402 8.866 0.343 Phox homologous domain . . 0.2414 0.4730 0.2388 0.2267 0.2424 0.1653 0.2054 0.2301 0.3211 0.2792 0.4779 0.2566 0.23 0.2454 0.1657 0.2005 0.2143 hom 2898.75 100 8 101648164 . C G 2898.75 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.58;MQ0=0;QD=28.99;VQSLOD=7.9367;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:2932,217,0 8 103851052 103851052 T C exonic AZIN1 synonymous SNV AZIN1:NM_001301668:exon5:c.A369G:p.A123A,AZIN1:NM_148174:exon5:c.A369G:p.A123A,AZIN1:NM_015878:exon6:c.A369G:p.A123A 0.2 0.063 0.16 0.15 0.26 0.4 0.2599 0.0887 0.2315 0.1528 0.3177 0.2680 0.2765 0.3866 0.2 0.092 0.26 0.2 0.22 rs1062048 COSM3762962 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2579 0.0858 0.2262 0.2618 0.1494 0.3180 0.2617 0.2520 0.3815 0.2152 0.0977 0.2112 0.2417 0.1397 0.3139 0.2637 0.2894 het 1036.67 80 8 103851052 . T C 1036.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.623;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8298;MQ=59.30;MQ0=0;MQRankSum=-1.015;QD=12.96;ReadPosRankSum=-0.142;VQSLOD=6.2201;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,41:80:99:1067,0,1085 8 104312432 104312432 A G exonic FZD6 startloss FZD6:NM_001164615:exon2:c.A97G:p.M33V,FZD6:NM_003506:exon2:c.A97G:p.M33V,FZD6:NM_001164616:exon3:c.A1G:p.K2_M3del 0.17 0.22 0.17 0.013 0.27 0.17 0.2237 0.2171 0.1163 0.0075 0.2288 0.2773 0.2665 0.1952 0.25 0.21 0.27 0.16 0.25 rs827528 COSM1453718 1(breast);1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.189 0.267 T 0.0 0.026 B 0.001 0.040 B 0.122 0.190 N 1.000 0.588 P 0.755 0.192 N -0.93 0.758 T -0.54 0.166 N 0.074 0.112 -1.096 0.046 T 0.000 0.000 T . . . 0.594 0.151 8.115 0.877 0.169 0.169 0.194 N c -0.826 -0.731 1.000 0.747 0.660 0.490 0 -0.683 0.107 0.029 0.134 0.234 0.260 0.180 0.238 1.000 0.888 2.979 0.055 Frizzled domain ENSG00000266289.1 Brain_Nucleus_accumbens_basal_ganglia 0.2173 0.2137 0.1260 0.32 0.0073 0.2271 0.2708 0.2490 0.1968 0.2291 0.2223 0.1679 0.3245 0.0093 0.2330 0.2578 0.2260 het 1807.42 151 8 104312432 . A G 1807.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.099;DP=151;Dels=0.00;FS=16.269;HRun=0;HaplotypeScore=2.8015;MQ=59.29;MQ0=0;MQRankSum=-0.890;QD=11.97;ReadPosRankSum=-0.414;VQSLOD=3.5025;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,67:151:99:1837,0,2125 8 104394744 104394744 T C exonic CTHRC1 synonymous SNV CTHRC1:NM_001256099:exon4:c.T606C:p.G202G,CTHRC1:NM_138455:exon4:c.T648C:p.G216G 0.74 0.79 0.73 0.67 0.77 0.74 0.7645 0.7809 0.7687 0.6683 0.7333 0.7793 0.7544 0.7551 0.78 0.78 0.79 0.72 0.75 rs3098233 COSM3762969;COSM3762968 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7631 0.7834 0.7655 0.8186 0.6705 0.7331 0.7774 0.7714 0.7530 0.7729 0.7847 0.7745 0.8278 0.6822 0.7288 0.7863 0.75 hom 6191.71 196 8 104394744 . T C 6191.71 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.060;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4815;MQ=59.54;MQ0=0;MQRankSum=1.644;QD=31.59;ReadPosRankSum=-1.608;VQSLOD=4.1591;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,195:196:99:6154,436,0 8 104427359 104427359 A C exonic DCAF13 nonsynonymous SNV DCAF13:NM_015420:exon1:c.A141C:p.R47S 0.43 0.5 0.43 0.35 0.47 0.37 0.4406 0.4979 0.3411 0.3425 0.4859 0.4692 0.5011 0.3913 0.46 0.5 0.44 0.48 0.42 rs3134295 COSM453777 1(urinary_tract) . . . . . . . . . . . 1.0 0.010 T . . . . . . . . . 1 0.090 P . . . -1.06 0.768 T -0.05 0.078 N 0.006 0.000 -0.982 0.346 T 0.000 0.000 T . . . 1.656 0.260 14.16 0.485 0.040 0.006 0.028 N c -0.990 -1.127 1.000 0.747 0.442 0.072 0 0.973 0.187 -3.232 0.006 -0.811 0.031 0.000 0.063 0.000 0.016 2.054 0.033 . ENSG00000266289.1|ENSG00000266289.1|ENSG00000164934.9|ENSG00000164932.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Muscle_Skeletal|Nerve_Tibial 0.4333 0.4925 0.3513 0.5195 0.3371 0.4828 0.4578 0.4580 0.3945 0.4619 0.4925 0.3888 0.5331 0.3217 0.4954 0.4542 0.4571 het 1604.44 99 8 104427359 . A C 1604.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.700;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.067;QD=16.21;ReadPosRankSum=0.025;VQSLOD=12.2206;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,53:99:99:1634,0,1246 8 105263979 105263979 C T exonic RIMS2 synonymous SNV RIMS2:NM_001282882:exon6:c.C789T:p.A263A,RIMS2:NM_001348502:exon20:c.C3177T:p.A1059A,RIMS2:NM_001282881:exon21:c.C3498T:p.A1166A,RIMS2:NM_001348500:exon21:c.C3243T:p.A1081A,RIMS2:NM_001348506:exon21:c.C3357T:p.A1119A,RIMS2:NM_001348485:exon22:c.C3753T:p.A1251A,RIMS2:NM_001348504:exon22:c.C3258T:p.A1086A,RIMS2:NM_001348505:exon22:c.C3564T:p.A1188A,RIMS2:NM_001348507:exon22:c.C3405T:p.A1135A,RIMS2:NM_001348508:exon22:c.C3390T:p.A1130A,RIMS2:NM_014677:exon22:c.C3423T:p.A1141A,RIMS2:NM_001348493:exon23:c.C3933T:p.A1311A,RIMS2:NM_001348497:exon23:c.C3927T:p.A1309A,RIMS2:NM_001100117:exon24:c.C3981T:p.A1327A,RIMS2:NM_001348494:exon24:c.C4140T:p.A1380A,RIMS2:NM_001348496:exon24:c.C3945T:p.A1315A,RIMS2:NM_001348499:exon24:c.C3489T:p.A1163A,RIMS2:NM_001348486:exon25:c.C4152T:p.A1384A,RIMS2:NM_001348487:exon25:c.C4011T:p.A1337A,RIMS2:NM_001348491:exon25:c.C4194T:p.A1398A,RIMS2:NM_001348492:exon25:c.C3978T:p.A1326A,RIMS2:NM_001348495:exon25:c.C4008T:p.A1336A,RIMS2:NM_001348498:exon25:c.C3906T:p.A1302A,RIMS2:NM_001348501:exon25:c.C3759T:p.A1253A,RIMS2:NM_001348503:exon25:c.C3906T:p.A1302A,RIMS2:NM_001348488:exon26:c.C4065T:p.A1355A,RIMS2:NM_001348509:exon27:c.C4002T:p.A1334A,RIMS2:NM_001348490:exon28:c.C4494T:p.A1498A,RIMS2:NM_001348489:exon29:c.C4581T:p.A1527A,RIMS2:NM_001348484:exon30:c.C4755T:p.A1585A 0.48 0.52 0.54 0.65 0.35 0.33 0.3996 0.5090 0.5570 0.6143 0.3731 0.3508 0.3833 0.3208 0.4 0.5 0.35 0.51 0.41 rs10461 COSM3982343;COSM3982340;COSM3982341;COSM3982342;COSM3982344 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4051 0.5133 0.5462 0.3432 0.6187 0.3766 0.3496 0.4023 0.3197 0.4212 0.4998 0.5072 0.3940 0.6485 0.3800 0.3589 0.3875 het 2443.97 242 8 105263979 . C T 2443.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.903;DP=242;DS;Dels=0.00;FS=1.583;HRun=0;HaplotypeScore=5.3903;MQ=57.53;MQ0=0;MQRankSum=1.823;QD=10.10;ReadPosRankSum=1.588;VQSLOD=3.3662;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,99:242:99:2474,0,3712 8 105361095 105361095 C T exonic DCSTAMP synonymous SNV DCSTAMP:NM_001257317:exon2:c.C315T:p.I105I,DCSTAMP:NM_030788:exon2:c.C315T:p.I105I 0.12 0.06 0.19 0.13 0.13 0.11 0.1297 0.0770 0.1972 0.1238 0.0753 0.1308 0.1101 0.1371 0.11 0.079 0.13 0.065 0.16 rs3088027 COSM4162585 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1315 0.0765 0.1917 0.1112 0.1240 0.0793 0.1323 0.1393 0.1372 0.1056 0.0734 0.1683 0.1358 0.1346 0.0784 0.1223 0.1232 het 1628.77 112 8 105361095 . C T 1628.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.825;DP=112;Dels=0.00;FS=2.586;HRun=1;HaplotypeScore=2.7817;MQ=59.79;MQ0=0;MQRankSum=0.646;QD=14.54;ReadPosRankSum=-0.407;VQSLOD=5.6215;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,57:112:99:1659,0,1388 8 105361354 105361354 G C exonic DCSTAMP nonsynonymous SNV DCSTAMP:NM_001257317:exon2:c.G574C:p.E192Q,DCSTAMP:NM_030788:exon2:c.G574C:p.E192Q 0.12 0.06 0.19 0.13 0.13 0.12 0.1301 0.0773 0.1975 0.1266 0.0754 0.1311 0.1101 0.1372 0.11 0.079 0.13 0.065 0.16 rs67114147 COSM3774318 1(kidney) . . . . . . . . . . . 0.144 0.305 T 0.051 0.210 B 0.016 0.166 B 0.051 0.230 N 1.000 0.205 P 0.625 0.159 N 1.42 0.332 T -1.05 0.422 N 0.022 0.006 -0.986 0.337 T 0.000 0.000 T . . . -0.012 0.092 2.476 0.761 0.110 0.105 0.158 N c -0.906 -0.917 0.006 0.110 0.487 0.133 0 -1.86 0.073 -0.234 0.090 0.135 0.219 0.395 0.259 0.944 0.418 11.861 0.516 . ENSG00000164935.2 Lung 0.1317 0.0768 0.1919 0.1112 0.1255 0.0795 0.1324 0.1402 0.1373 0.1060 0.0737 0.1695 0.1358 0.1380 0.0787 0.1225 0.1237 het 4086.39 246 8 105361354 . G C 4086.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.760;DP=246;Dels=0.00;FS=0.987;HRun=0;HaplotypeScore=5.1250;MQ=59.75;MQ0=0;MQRankSum=0.990;QD=16.61;ReadPosRankSum=-1.304;VQSLOD=3.9497;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,126:246:99:3475,0,3239 8 105367121 105367121 A G exonic DCSTAMP nonsynonymous SNV DCSTAMP:NM_030788:exon3:c.A1046G:p.D349G 0.12 0.06 0.19 0.13 0.13 0.11 0.1340 0.0774 0.1988 0.1278 0.0797 0.1359 0.1180 0.1426 0.12 0.08 0.14 0.076 0.16 rs3802204 . . . . . . . . . . . . . 0.561 0.063 T 0.0 0.026 B 0.003 0.080 B 0.468 0.123 N 1 0.090 P 1.47 0.371 L 1.54 0.301 T 0.74 0.020 N 0.059 0.043 -0.990 0.327 T 0.000 0.000 T . . . 0.067 0.100 3.258 0.737 0.101 0.024 0.068 N c -0.973 -0.977 0.982 0.303 0.487 0.133 0 0.324 0.151 0.072 0.144 0.237 0.263 0.000 0.063 0.553 0.280 4.198 0.098 Dendritic cell-specific transmembrane protein-like ENSG00000164935.2 Lung 0.1352 0.0768 0.1957 0.1216 0.1277 0.0822 0.1370 0.1463 0.1386 0.1083 0.0728 0.1754 0.1424 0.1409 0.0805 0.1265 0.1230 het 866.90 53 8 105367121 . A G 866.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.119;DP=53;Dels=0.00;FS=4.135;HRun=1;HaplotypeScore=0.9983;MQ=56.67;MQ0=0;MQRankSum=-0.155;QD=16.36;ReadPosRankSum=-0.555;VQSLOD=3.1568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,32:53:99:897,0,495 8 107754473 107754473 G A exonic OXR1 synonymous SNV OXR1:NM_001198535:exon4:c.G369A:p.E123E,OXR1:NM_001198534:exon5:c.G450A:p.E150E,OXR1:NM_181354:exon12:c.G2238A:p.E746E,OXR1:NM_001198532:exon14:c.G2343A:p.E781E,OXR1:NM_018002:exon14:c.G2259A:p.E753E,OXR1:NM_001198533:exon15:c.G2340A:p.E780E 0.38 0.21 0.52 0.35 0.44 0.49 0.4376 0.2360 0.5371 0.3531 0.5529 0.4457 0.4273 0.4611 0.37 0.24 0.43 0.35 0.38 rs1681904 COSM3982350;COSM3982352;COSM3982349;COSM3982353;COSM3982351 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4451 0.2307 0.5261 0.4128 0.3489 0.5460 0.4427 0.4622 0.4608 0.4024 0.2323 0.5095 0.43 0.3278 0.5464 0.4637 0.4878 hom 2368.94 82 8 107754473 . G A 2368.94 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=28.89;VQSLOD=8.4510;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2402,184,0 8 108970367 108970367 A G exonic RSPO2 nonsynonymous SNV RSPO2:NM_001282863:exon4:c.T365C:p.L122P,RSPO2:NM_001317942:exon4:c.T356C:p.L119P,RSPO2:NM_178565:exon5:c.T557C:p.L186P 0.49 0.076 0.6 0.69 0.66 0.6 0.5784 0.1542 0.6113 0.6829 0.5989 0.6183 0.5903 0.5979 0.47 0.17 0.63 0.43 0.69 rs601558 COSM5904899 1(skin) . . . . . . . . . . . 0.655 0.095 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.003 0.441 P -1.44 0.006 N -0.89 0.748 T 1.05 0.013 N 0.069 0.130 -0.958 0.395 T 0.000 0.000 T . . . 2.545 0.367 19.76 0.915 0.202 0.202 0.207 N c -0.594 -0.297 0.190 0.180 0.554 0.246 0 4.95 0.648 4.754 0.617 0.138 0.222 1.000 0.715 0.759 0.324 13.140 0.587 Growth factor receptor cysteine-rich domain . . 0.5880 0.1449 0.6060 0.5925 0.6889 0.5914 0.6224 0.6060 0.6005 0.4824 0.1523 0.6145 0.5894 0.7177 0.5967 0.6087 0.5543 hom 6284.73 194 8 108970367 . A G 6284.73 Mask AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7813;MQ=59.20;MQ0=0;QD=32.40;VQSLOD=9.5750;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:6284,500,0 8 110301998 110301998 T C exonic NUDCD1 nonsynonymous SNV NUDCD1:NM_001128211:exon5:c.A718G:p.I240V,NUDCD1:NM_032869:exon5:c.A805G:p.I269V 0.38 0.18 0.49 0.46 0.36 0.51 0.4155 0.2243 0.5537 0.4697 0.4586 0.3897 0.4089 0.4958 0.34 0.23 0.39 0.35 0.3 rs2980618 COSM3762988;COSM5830809 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.410 D 1 0.090 P 0 0.065 N 2.37 0.161 T 0.45 0.032 N 0.017 0.005 -0.921 0.454 T 0.000 0.000 T . . . 1.033 0.193 10.85 0.648 0.074 0.129 0.174 N c -0.675 -0.529 0.097 0.163 0.732 0.924 0 1.55 0.222 0.458 0.214 1.061 0.807 0.084 0.222 0.988 0.529 5.01 0.136 . ENSG00000205038.7|ENSG00000120526.6 Cells_EBV-transformed_lymphocytes|Testis 0.4067 0.2013 0.5207 0.2294 0.4509 0.4528 0.3836 0.3723 0.4876 0.3717 0.2124 0.5312 0.2616 0.4907 0.4524 0.4210 0.4518 het 645.73 64 8 110301998 . T C 645.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DP=64;Dels=0.00;FS=1.065;HRun=0;HaplotypeScore=1.8154;MQ=57.01;MQ0=0;MQRankSum=1.820;QD=10.09;ReadPosRankSum=0.345;VQSLOD=4.0482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,28:64:99:676,0,891 8 110302047 110302047 T G exonic NUDCD1 nonsynonymous SNV NUDCD1:NM_001128211:exon5:c.A669C:p.L223F,NUDCD1:NM_032869:exon5:c.A756C:p.L252F 0.67 0.89 0.69 0.52 0.48 0.7 0.5926 0.8468 0.6805 0.5297 0.535 0.5321 0.5940 0.6702 0.64 0.84 0.54 0.63 0.48 rs2980619 COSM3762989;COSM5830810 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.199 P -2.72 0.000 N 2.33 0.165 T 3.8 0.001 N 0.06 0.088 -0.988 0.331 T 0.000 0.000 T . . . -0.702 0.045 0.071 0.099 0.001 0.059 0.117 N c -1.322 -1.066 0.627 0.219 0.732 0.924 0 3.81 0.429 2.507 0.449 -0.247 0.091 1.000 0.715 0.167 0.209 7.738 0.278 . ENSG00000205038.7 Cells_EBV-transformed_lymphocytes 0.5749 0.8435 0.6571 0.3906 0.5086 0.5316 0.5321 0.5457 0.6612 0.6316 0.8400 0.6859 0.44 0.5402 0.5287 0.5483 0.5808 het 1051.23 78 8 110302047 . T G 1051.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.334;DP=78;Dels=0.00;FS=1.832;HRun=0;HaplotypeScore=0.0000;MQ=58.13;MQ0=0;MQRankSum=3.574;QD=13.48;ReadPosRankSum=-0.845;VQSLOD=3.0026;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,40:78:99:1081,0,993 8 110412519 110412519 G A exonic PKHD1L1 synonymous SNV PKHD1L1:NM_177531:exon13:c.G1227A:p.K409K 0.6 0.69 0.66 0.4 0.52 0.71 0.5668 0.6932 0.6897 0.4195 0.5121 0.5244 0.5468 0.6771 0.59 0.69 0.54 0.73 . rs1379369 COSM3762991 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5693 0.6923 0.6834 0.4260 0.4166 0.5134 0.5361 0.5430 0.6804 0.5842 0.6969 0.6850 0.4767 0.4413 0.5135 0.5459 0.6010 het 1760.88 129 8 110412519 . G A 1760.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.097;DP=129;DS;Dels=0.00;FS=0.795;HRun=2;HaplotypeScore=3.2304;MQ=59.35;MQ0=0;MQRankSum=-0.393;QD=13.65;ReadPosRankSum=-1.227;VQSLOD=5.4236;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,63:129:99:1791,0,1862 8 110413762 110413762 T C exonic PKHD1L1 nonsynonymous SNV PKHD1L1:NM_177531:exon14:c.T1318C:p.Y440H 0.31 0.15 0.47 0.39 0.31 0.34 0.3309 0.1897 0.5523 0.4181 0.3114 0.3085 0.3184 0.3144 0.28 0.19 0.32 0.36 . rs964307 . . . . . . . . . . . . . 0.0 0.912 D 0.998 0.715 D 0.972 0.710 D 0.002 0.371 N 0.997 0.228 P 1.995 0.543 M 2.03 0.210 T -3.02 0.626 D 0.239 0.293 -0.921 0.455 T 0.000 0.000 T . . . 4.343 0.582 24.0 0.998 0.922 0.937 0.587 D c 0.685 0.672 0.722 0.229 0.554 0.283 0 5.75 0.904 5.505 0.665 1.007 0.626 1.000 0.715 0.996 0.625 14.007 0.638 PA14 domain ENSG00000254185.1|ENSG00000205038.7 Thyroid|Thyroid 0.3379 0.1822 0.5385 0.2052 0.4131 0.3107 0.3141 0.3168 0.3091 0.2999 0.1904 0.5192 0.2053 0.4336 0.3088 0.3334 0.3510 het 567.77 38 8 110413762 . T C 567.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.779;DP=38;Dels=0.00;FS=2.910;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=-0.424;QD=14.94;ReadPosRankSum=0.330;VQSLOD=6.0875;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,26:38:99:598,0,273 8 110416813 110416813 C T exonic PKHD1L1 synonymous SNV PKHD1L1:NM_177531:exon15:c.C1404T:p.Y468Y 0.6 0.69 0.66 0.4 0.52 0.71 0.5665 0.6938 0.6898 0.4182 0.5112 0.5238 0.5503 0.6785 0.59 0.69 0.54 0.73 . rs1457286 COSM3762992 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5666 0.6935 0.6872 0.4242 0.4157 0.5121 0.5331 0.5443 0.6806 0.5844 0.6966 0.6859 0.4801 0.4419 0.5138 0.5461 0.5998 het 599.39 64 8 110416813 . C T 599.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.119;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7355;MQ=58.16;MQ0=0;MQRankSum=1.958;QD=9.37;ReadPosRankSum=2.270;VQSLOD=3.9420;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,27:64:99:629,0,943 8 110420384 110420384 T C exonic PKHD1L1 synonymous SNV PKHD1L1:NM_177531:exon18:c.T1920C:p.N640N 0.31 0.16 0.47 0.39 0.31 0.34 0.3301 0.1911 0.5513 0.4182 0.3109 0.3072 0.3181 0.3127 0.28 0.19 0.32 0.36 . rs13254245 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3395 0.1862 0.5410 0.2057 0.4143 0.3111 0.3150 0.3164 0.3104 0.3008 0.1940 0.5192 0.2067 0.4339 0.3087 0.3334 0.3503 het 1441.58 117 8 110420384 . T C 1441.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.640;DP=117;Dels=0.00;FS=0.686;HRun=0;HaplotypeScore=0.9894;MQ=59.12;MQ0=0;MQRankSum=-0.156;QD=12.32;ReadPosRankSum=0.259;VQSLOD=6.7527;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,55:117:99:1472,0,1540 8 110420429 110420429 A G exonic PKHD1L1 synonymous SNV PKHD1L1:NM_177531:exon18:c.A1965G:p.E655E 0.31 0.16 0.47 0.39 0.31 0.34 0.3302 0.1912 0.5517 0.4173 0.3107 0.3073 0.3188 0.3136 0.28 0.19 0.32 0.36 . rs13252234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3384 0.1859 0.5393 0.2052 0.4131 0.3108 0.3142 0.3155 0.3091 0.3010 0.1944 0.5180 0.2081 0.4343 0.3098 0.3332 0.35 het 1211.27 99 8 110420429 . A G 1211.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.020;DP=99;Dels=0.00;FS=6.844;HRun=1;HaplotypeScore=3.8223;MQ=58.96;MQ0=0;MQRankSum=-0.032;QD=12.24;ReadPosRankSum=0.263;VQSLOD=5.1181;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,47:99:99:1241,0,1520 8 110437384 110437384 A G exonic PKHD1L1 nonsynonymous SNV PKHD1L1:NM_177531:exon24:c.A2768G:p.H923R 0.61 0.75 0.66 0.4 0.52 0.71 0.5783 0.7414 0.6979 0.4267 0.5185 0.5334 0.5513 0.6815 0.6 0.73 0.54 0.69 . rs4735133 COSM3762993 2(pancreas);1(large_intestine) . . . . . . . . . . . 0.383 0.111 T 0.0 0.026 B 0.0 0.013 B 0.041 0.240 N 1.000 0.201 P -1.67 0.004 N -1.87 0.844 D 0.58 0.026 N 0.019 0.004 -0.950 0.410 T 0.000 0.000 T . . . -0.201 0.076 1.093 0.646 0.073 0.040 0.093 N c -1.230 -0.953 0.005 0.108 0.554 0.246 0 1.04 0.191 0.240 0.177 -1.811 0.006 0.993 0.376 0.953 0.430 6.233 0.198 . ENSG00000205038.7|ENSG00000205038.7|ENSG00000254185.1|ENSG00000205038.7 Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Thyroid|Thyroid 0.5697 0.7363 0.6834 0.4251 0.4113 0.5128 0.5348 0.5408 0.6779 0.5971 0.7430 0.6906 0.4801 0.4372 0.5127 0.5458 0.6008 het 535.53 45 8 110437384 . A G 535.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.281;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.602;QD=11.90;ReadPosRankSum=-0.511;VQSLOD=11.6572;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,22:45:99:566,0,602 8 110455321 110455321 C A exonic PKHD1L1 nonsynonymous SNV PKHD1L1:NM_177531:exon36:c.C4540A:p.R1514S 0.56 0.55 0.66 0.4 0.51 0.72 0.5511 0.5570 0.6774 0.4188 0.5050 0.5172 0.5412 0.6839 0.55 0.57 0.54 0.69 . rs1673408 COSM3762996 1(large_intestine) . . . . . . . . . . . 0.503 0.077 T 0.0 0.026 B 0.0 0.013 B 0.004 0.345 N 1 0.090 P -2.08 0.002 N -1.91 0.847 D 1.68 0.006 N 0.041 0.021 -0.943 0.421 T 0.000 0.000 T . . . 1.416 0.233 12.87 0.842 0.146 0.013 0.045 N c -1.411 -1.358 0.376 0.199 0.554 0.246 0 -5.52 0.023 -0.351 0.077 0.242 0.267 0.003 0.159 0.985 0.512 10.839 0.457 . ENSG00000205038.7|ENSG00000205038.7|ENSG00000254185.1|ENSG00000205038.7 Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Thyroid|Thyroid 0.5552 0.5552 0.6714 0.4246 0.4154 0.5062 0.5279 0.5325 0.6873 0.5375 0.5544 0.6635 0.4834 0.4399 0.5054 0.5367 0.5849 het 2606.97 242 8 110455321 . C A 2606.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.617;DP=242;DS;Dels=0.00;FS=2.246;HRun=0;HaplotypeScore=6.2877;MQ=56.95;MQ0=0;MQRankSum=0.697;QD=10.77;ReadPosRankSum=-1.248;VQSLOD=3.6977;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:138,104:242:99:2637,0,3211 8 110460488 110460488 G T exonic PKHD1L1 nonsynonymous SNV PKHD1L1:NM_177531:exon39:c.G5893T:p.V1965L 0.61 0.75 0.67 0.4 0.51 0.72 0.5673 0.7362 0.6865 0.4187 0.5041 0.5179 0.5520 0.6864 0.6 0.73 0.54 0.76 . rs1673407 COSM1454074 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.006 0.112 B 0.014 0.288 N 1 0.090 P -1.615 0.004 N -1.5 0.813 D 0.08 0.060 N 0.079 0.071 -1.001 0.296 T 0.000 0.000 T . . . -0.439 0.059 0.311 0.232 0.010 0.005 0.024 N c -1.647 -1.573 0.018 0.130 0.554 0.246 0 -3.17 0.049 -1.825 0.018 -0.308 0.079 0.000 0.063 0.143 0.203 2.484 0.043 IPT domain|Immunoglobulin E-set|Immunoglobulin-like fold ENSG00000205038.7|ENSG00000205038.7|ENSG00000254185.1|ENSG00000205038.7 Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Thyroid|Thyroid 0.5676 0.7373 0.6807 0.4241 0.4144 0.5054 0.5274 0.5388 0.6874 0.5914 0.7412 0.6806 0.4834 0.4420 0.5036 0.5367 0.5950 het 468.09 46 8 110460488 . G T 468.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.620;DP=46;Dels=0.00;FS=2.444;HRun=1;HaplotypeScore=1.9956;MQ=58.16;MQ0=0;MQRankSum=-0.742;QD=10.18;ReadPosRankSum=0.587;VQSLOD=5.2099;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,20:46:99:498,0,756 8 110465060 110465060 G C exonic PKHD1L1 synonymous SNV PKHD1L1:NM_177531:exon43:c.G6621C:p.L2207L 0.5 0.39 0.62 0.4 0.5 0.67 0.5767 0.4657 0.6951 0.4880 0.5545 0.5639 0.5637 0.6655 0.49 0.43 0.52 0.61 . rs1673404 COSM3762998 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5050 0.3901 0.6095 0.3944 0.3743 0.4968 0.4981 0.4890 0.6290 0.4951 0.4217 0.6406 0.4633 0.4435 0.5032 0.5296 0.5649 het 93.07 10 8 110465060 . G C 93.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.098;DP=10;Dels=0.00;FS=5.441;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.103;QD=9.31;ReadPosRankSum=-0.676;VQSLOD=5.4975;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:123,0,136 8 110476993 110476993 A G exonic PKHD1L1 synonymous SNV PKHD1L1:NM_177531:exon49:c.A7932G:p.A2644A 0.52 0.39 0.63 0.41 0.5 0.71 0.5339 0.4235 0.6672 0.4275 0.5002 0.5080 0.5256 0.6802 0.48 0.41 0.52 0.69 . rs1673398 COSM3762999 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5401 0.4207 0.6594 0.4154 0.4244 0.5023 0.5187 0.5174 0.6832 0.4958 0.4231 0.6495 0.4669 0.4413 0.5031 0.5294 0.5694 het 2293.19 192 8 110476993 . A G 2293.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.569;DP=192;Dels=0.00;FS=0.537;HRun=0;HaplotypeScore=3.9972;MQ=59.66;MQ0=0;MQRankSum=1.151;QD=11.94;ReadPosRankSum=0.897;VQSLOD=5.9182;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,96:192:99:2323,0,2493 8 110592108 110592108 G A exonic SYBU synonymous SNV SYBU:NM_001330596:exon3:c.C264T:p.I88I,SYBU:NM_001099746:exon4:c.C297T:p.I99I,SYBU:NM_001099749:exon4:c.C297T:p.I99I,SYBU:NM_001099755:exon4:c.C297T:p.I99I,SYBU:NM_001099756:exon4:c.C645T:p.I215I,SYBU:NM_001099753:exon5:c.C651T:p.I217I,SYBU:NM_001099754:exon5:c.C654T:p.I218I,SYBU:NM_001099743:exon6:c.C651T:p.I217I,SYBU:NM_001099744:exon6:c.C654T:p.I218I,SYBU:NM_001099745:exon6:c.C654T:p.I218I,SYBU:NM_001099747:exon6:c.C651T:p.I217I,SYBU:NM_001099748:exon6:c.C654T:p.I218I,SYBU:NM_001099751:exon6:c.C651T:p.I217I,SYBU:NM_001099752:exon6:c.C654T:p.I218I,SYBU:NM_001099750:exon7:c.C654T:p.I218I,SYBU:NM_017786:exon7:c.C651T:p.I217I 0.021 0.0008 0.039 . 0.071 0.0041 0.0444 0.0111 0.0221 0 0.0389 0.0673 0.0344 0.0135 0.052 0.015 0.07 0.033 0.066 rs10085994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0446 0.0101 0.0281 0.0330 5.798e-05 0.0384 0.0717 0.0498 0.0134 0.0489 0.0111 0.0406 0.0364 0.0006 0.0381 0.0786 0.0602 het 2996.40 250 8 110592108 . G A 2996.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.705;DP=250;DS;Dels=0.00;FS=2.159;HRun=1;HaplotypeScore=8.8724;MQ=58.94;MQ0=0;MQRankSum=0.445;QD=11.99;ReadPosRankSum=1.122;VQSLOD=4.5831;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,117:250:99:3026,0,3887 8 113237045 113237045 C T exonic CSMD3 synonymous SNV CSMD3:NM_052900:exon69:c.G10572A:p.A3524A,CSMD3:NM_198123:exon71:c.G11079A:p.A3693A,CSMD3:NM_198124:exon72:c.G10959A:p.A3653A 0.053 0.003 0.086 0.004 0.13 0.069 0.0939 0.0211 0.0576 0.0021 0.1554 0.1221 0.1035 0.0741 0.089 0.024 0.12 0.043 0.082 rs4876458 COSM3763004;COSM3763005 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0977 0.0201 0.0653 0.1568 0.0016 0.1547 0.1214 0.1127 0.0762 0.0870 0.0212 0.0718 0.1060 0.0025 0.1511 0.1174 0.1253 het 3086.16 209 8 113237045 . C T 3086.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.773;DP=209;Dels=0.00;FS=0.511;HRun=0;HaplotypeScore=8.4055;MQ=58.28;MQ0=0;MQRankSum=-0.024;QD=14.77;ReadPosRankSum=0.951;VQSLOD=4.4127;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,108:209:99:3116,0,2626 8 113241088 113241088 T G exonic CSMD3 nonsynonymous SNV CSMD3:NM_052900:exon68:c.A10354C:p.N3452H,CSMD3:NM_198123:exon70:c.A10861C:p.N3621H,CSMD3:NM_198124:exon71:c.A10741C:p.N3581H 0.71 0.94 0.58 0.76 0.57 0.59 0.6148 0.8973 0.6172 0.7600 0.5377 0.5649 0.5905 0.5933 0.67 0.88 0.56 0.78 0.46 rs1592624 COSM1166813;COSM1166814 1(ovary);1(thyroid);3(large_intestine) . . . . . . . . . . . 0.177 0.248 T 0.928 0.647 P 0.73 0.606 P 0.002 0.382 N 0.007 0.429 P 1.445 0.365 L 2.04 0.263 T -1.56 0.379 N 0.072 0.112 -1.109 0.031 T 0.000 0.000 T . . . 3.703 0.502 23.3 0.993 0.597 0.935 0.582 D c 0.507 0.544 0.003 0.102 0.487 0.133 0 5.63 0.861 4.260 0.584 1.061 0.807 1.000 0.715 0.998 0.697 16.126 0.811 Sushi/SCR/CCP domain . . 0.6095 0.9008 0.6085 0.6827 0.7531 0.5409 0.5586 0.6115 0.5952 0.6604 0.8932 0.5849 0.6589 0.7722 0.5361 0.5521 0.5643 hom 2109.13 72 8 113241088 . T G 2109.13 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=29.29;VQSLOD=8.1175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2142,163,0 8 117783914 117783914 A C exonic UTP23 nonsynonymous SNV UTP23:NM_032334:exon3:c.A583C:p.K195Q 0.074 0.14 0.052 . 0.061 0.093 0.0574 0.1127 0.0285 0.0008 0.0713 0.0512 0.0737 0.0911 0.063 0.11 0.041 0.11 0.049 rs1133950 COSM3763012 3(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.014 0.531 D 0.979 0.571 D 0.655 0.508 P 0.000 0.629 D 0.000 0.810 P 1.965 0.534 M 1.6 0.286 T -2.68 0.572 D 0.112 0.121 -1.088 0.059 T 0.001 0.004 T . . . 4.651 0.623 24.5 0.995 0.651 0.987 0.861 D c 0.721 0.701 1.000 0.747 0.722 0.854 0 5.57 0.840 8.551 0.904 1.199 0.960 1.000 0.715 0.072 0.177 15.734 0.775 . . . 0.0540 0.1139 0.0277 0.1075 0.0006 0.0661 0.0451 0.0598 0.0885 0.0651 0.1133 0.0382 0.0894 0.0006 0.0606 0.0467 0.0574 het 402.15 59 8 117783914 . A C 402.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.955;DP=59;Dels=0.00;FS=1.158;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=1.045;QD=6.82;ReadPosRankSum=1.144;VQSLOD=5.2942;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,18:59:99:432,0,1086 8 117783975 117783975 C T exonic UTP23 nonsynonymous SNV UTP23:NM_032334:exon3:c.C644T:p.P215L 0.19 0.46 0.082 0.013 0.11 0.17 0.1258 0.3790 0.0567 0.0189 0.1181 0.1042 0.1258 0.1650 0.19 0.36 0.098 0.28 0.057 rs16888728 COSM1623553 1(liver);1(prostate) . . . . . . . . . . . 0.309 0.140 T 0.004 0.112 B 0.001 0.040 B 0.294 0.147 N 1 0.090 P 0.345 0.112 N 1.87 0.241 T -1.01 0.266 N 0.04 0.020 -0.909 0.470 T 0.000 0.000 T . . . 1.145 0.204 11.46 0.723 0.096 0.824 0.413 D c -0.810 -0.745 1.000 0.408 0.722 0.854 0 -0.543 0.112 1.736 0.376 -0.176 0.105 0.966 0.337 0.842 0.351 7.267 0.252 . ENSG00000147679.7 Cells_Transformed_fibroblasts 0.1160 0.3742 0.0585 0.1654 0.0168 0.1134 0.0972 0.1122 0.1615 0.1693 0.3619 0.0776 0.1755 0.0123 0.1081 0.0973 0.1171 het 590.32 53 8 117783975 . C T 590.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.347;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.58;MQ0=0;MQRankSum=-1.247;QD=11.14;ReadPosRankSum=-0.583;VQSLOD=6.2240;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,23:53:99:620,0,797 8 118184783 118184783 C T exonic SLC30A8 nonsynonymous SNV SLC30A8:NM_173851:exon8:c.C973T:p.R325W,SLC30A8:NM_001172814:exon9:c.C826T:p.R276W,SLC30A8:NM_001172811:exon10:c.C826T:p.R276W,SLC30A8:NM_001172813:exon11:c.C826T:p.R276W,SLC30A8:NM_001172815:exon11:c.C826T:p.R276W 0.26 0.074 0.27 0.46 0.28 0.25 0.2849 0.0912 0.2684 0.4348 0.3747 0.3034 0.2941 0.2290 0.23 0.097 0.3 0.18 0.28 rs13266634 COSM4162621 1(haematopoietic_and_lymphoid_tissue);8(soft_tissue);1(thyroid);1(large_intestine) other DIABETES_MELLITUS\x2c_TYPE_2\x2c_SUSCEPTIBILITY_TO RCV000001055.3 . . Type 2 diabetes 0.85 . 17293876 rs13266634 6E-8 0.044 0.410 D 0.002 0.090 B 0.001 0.040 B 0.734 0.064 N 1.000 0.182 P 1.7 0.440 L -0.14 0.650 T -1.93 0.448 N 0.139 0.162 -0.942 0.423 T 0.000 0.000 T . . . 3.640 0.495 23.2 0.983 0.399 0.088 0.145 N c -0.685 -0.689 0.987 0.311 0.447 0.083 0 -1.75 0.076 -0.742 0.049 0.935 0.490 0.001 0.137 0.769 0.327 0.873 0.011 . . . 0.2876 0.0871 0.2564 0.2610 0.4383 0.3795 0.3012 0.2887 0.2301 0.2654 0.0928 0.2548 0.2433 0.4506 0.3838 0.3161 0.3245 het 2080.18 163 8 118184783 . C T 2080.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.815;DP=163;Dels=0.00;FS=0.587;HRun=0;HaplotypeScore=4.7383;MQ=58.98;MQ0=0;MQRankSum=-0.868;QD=12.76;ReadPosRankSum=-1.731;VQSLOD=4.9875;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,72:163:99:2110,0,2278 8 118819578 118819578 C T exonic EXT1 synonymous SNV EXT1:NM_000127:exon9:c.G1761A:p.E587E 0.34 0.16 0.55 0.38 0.42 0.3 0.3974 0.2126 0.5417 0.3581 0.4214 0.4178 0.4122 0.3405 0.35 0.21 0.42 0.35 0.38 rs7837891 COSM3982365 2(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Hereditary_Multiple_Osteochondromatosis RCV000253590.1|RCV000394057.1 MedGen|MedGen CN169374|CN239374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4073 0.2064 0.5373 0.3951 0.3674 0.4194 0.4176 0.4299 0.3414 0.3570 0.2065 0.5012 0.4007 0.3953 0.4140 0.4146 0.4102 hom 2910.02 89 8 118819578 . C T 2910.02 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.53;MQ0=0;QD=32.70;VQSLOD=9.9914;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2943,232,0 8 118832020 118832020 G A exonic EXT1 synonymous SNV EXT1:NM_000127:exon6:c.C1431T:p.P477P 0.12 0.079 0.18 0.031 0.24 0.1 0.1746 0.1055 0.1755 0.0361 0.3129 0.2031 0.1914 0.1179 0.16 0.11 0.19 0.12 0.14 rs17439693 . . Benign|Benign not_specified|Hereditary_Multiple_Osteochondromatosis RCV000253889.1|RCV000368045.1 MedGen|MedGen CN169374|CN239374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1778 0.1022 0.1831 0.1508 0.0350 0.3070 0.2011 0.1877 0.1188 0.1845 0.1025 0.1806 0.1093 0.0345 0.2935 0.2208 0.2449 het 1237.83 95 8 118832020 . G A 1237.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.344;DP=95;Dels=0.00;FS=2.801;HRun=1;HaplotypeScore=0.9916;MQ=59.12;MQ0=0;MQRankSum=-0.220;QD=13.03;ReadPosRankSum=0.294;VQSLOD=6.3586;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,48:95:99:1268,0,1238 8 118847782 118847782 G A exonic EXT1 synonymous SNV EXT1:NM_000127:exon3:c.C1065T:p.C355C 0.17 0.091 0.31 0.085 0.27 0.19 0.2596 0.1234 0.3417 0.0839 0.2457 0.2934 0.2654 0.2482 0.25 0.13 0.31 0.18 0.35 rs11546829 COSM150522 1(stomach);2(haematopoietic_and_lymphoid_tissue);5(soft_tissue);1(large_intestine) Benign|Benign not_specified|Hereditary_Multiple_Osteochondromatosis RCV000176988.2|RCV000366409.1 MedGen|MedGen CN169374|CN239374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2644 0.1217 0.3357 0.2952 0.0795 0.2450 0.2957 0.2882 0.2477 0.2251 0.1274 0.3162 0.3377 0.0750 0.2503 0.2828 0.2592 het 1710.72 126 8 118847782 . G A 1710.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.826;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7905;MQ=59.26;MQ0=0;MQRankSum=-0.555;QD=13.58;ReadPosRankSum=0.481;VQSLOD=5.8143;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,72:126:99:1741,0,1256 8 119938782 119938782 T C exonic TNFRSF11B synonymous SNV TNFRSF11B:NM_002546:exon4:c.A768G:p.L256L 0.079 0.046 0.066 0.0069 0.12 0.16 0.1086 0.0541 0.0471 0.0070 0.1010 0.1341 0.0859 0.1406 0.11 0.057 0.13 0.098 0.13 rs2228568 COSM5654117;COSM5654118 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Hyperphosphatasemia_with_bone_disease RCV000253933.1|RCV000395332.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268414:239000:ORPHA2801:9723006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1056 0.0532 0.0501 0.1361 0.0074 0.1025 0.1330 0.1118 0.1389 0.0949 0.0474 0.0609 0.1457 0.0068 0.0971 0.1316 0.1061 het 2497.68 233 8 119938782 . T C 2497.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.689;DP=233;Dels=0.00;FS=4.557;HRun=0;HaplotypeScore=3.7266;MQ=59.07;MQ0=0;MQRankSum=1.035;QD=10.72;ReadPosRankSum=-0.853;VQSLOD=5.0684;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,102:233:99:2528,0,3323 8 120233910 120233910 C T exonic MAL2 synonymous SNV MAL2:NM_052886:exon3:c.C216T:p.S72S 0.04 0.027 0.045 . 0.092 0.039 0.0703 0.0391 0.0288 0.0003 0.1042 0.0957 0.07 0.0386 0.074 0.044 0.088 0.011 . rs34920533 COSN23013003 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0682 0.0381 0.0332 0.0813 0.0003 0.1059 0.0923 0.0751 0.0390 0.0802 0.0355 0.0287 0.0762 0.0012 0.1080 0.1099 0.0998 het 4122.11 250 8 120233910 . C T 4122.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.666;DP=250;DS;Dels=0.00;FS=3.066;HRun=0;HaplotypeScore=8.8557;MQ=59.21;MQ0=0;MQRankSum=1.601;QD=16.49;ReadPosRankSum=0.027;VQSLOD=3.7516;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3447,0,3375 8 120596023 120596023 A G exonic ENPP2 nonsynonymous SNV ENPP2:NM_001040092:exon17:c.T1477C:p.S493P,ENPP2:NM_001130863:exon17:c.T1477C:p.S493P,ENPP2:NM_001330600:exon17:c.T1465C:p.S489P,ENPP2:NM_006209:exon18:c.T1633C:p.S545P 0.98 1. 0.97 1. 0.95 0.99 0.9570 0.9900 0.9674 0.9997 0.9238 0.9398 0.9459 0.9905 0.96 0.99 0.95 0.99 0.98 rs10283100 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.991 0.248 P -2.74 0.000 N -0.25 0.670 T 7.37 0.000 N 0.219 0.269 -0.930 0.441 T 0.000 0.000 T . . . 1.651 0.260 14.13 0.361 0.023 0.122 0.169 N c -0.716 -0.342 1.000 0.747 0.554 0.283 0 5.54 0.828 8.158 0.895 0.138 0.222 1.000 0.715 0.998 0.697 14.626 0.681 Alkaline-phosphatase-like\x2c core domain . . 0.9572 0.9907 0.9703 0.9576 0.9999 0.9210 0.9406 0.9475 0.9908 0.9564 0.9899 0.9773 0.9669 0.9994 0.9233 0.9388 0.9532 hom 4247.39 135 8 120596023 . A G 4247.39 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5145;MQ=58.58;MQ0=0;QD=31.46;VQSLOD=7.7317;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4247,325,0 8 120790304 120790304 T C exonic TAF2 synonymous SNV TAF2:NM_003184:exon18:c.A2319G:p.T773T 0.55 0.68 0.66 0.43 0.55 0.4 0.5695 0.6779 0.6348 0.4361 0.5983 0.5905 0.5737 0.4295 0.6 0.68 0.56 0.64 0.47 rs1509348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5649 0.6782 0.6324 0.6147 0.4359 0.5949 0.5752 0.6028 0.4223 0.5944 0.6645 0.6355 0.6060 0.4478 0.5805 0.5714 0.5754 het 610.94 66 8 120790304 . T C 610.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.689;DP=66;Dels=0.00;FS=0.942;HRun=0;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;MQRankSum=-1.848;QD=9.26;ReadPosRankSum=0.393;VQSLOD=4.6251;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,30:66:99:641,0,814 8 120803637 120803637 C G exonic TAF2 nonsynonymous SNV TAF2:NM_003184:exon11:c.G1340C:p.S447T 0.66 0.77 0.73 0.45 0.68 0.66 0.6851 0.76 0.6807 0.4566 0.6927 0.7079 0.7009 0.6647 0.72 0.77 0.7 0.74 0.7 rs9297605 COSM150523;COSM3982377 1(stomach);1(haematopoietic_and_lymphoid_tissue);3(prostate);1(large_intestine) . . . . . . . . . . . 0.636 0.051 T 0.0 0.026 B 0.0 0.013 B 0.000 0.513 N 1.000 0.090 P 0.46 0.130 N 3.55 0.048 T -0.27 0.114 N 0.036 0.236 -1.030 0.205 T 0.000 0.000 T . . . 1.600 0.254 13.85 0.803 0.127 0.518 0.287 D c -0.204 -0.135 0.046 0.147 0.732 0.924 0 2.97 0.333 4.805 0.620 0.039 0.154 1.000 0.715 0.997 0.653 5.372 0.153 . . . 0.6845 0.7629 0.6836 0.7541 0.4603 0.6933 0.7035 0.7118 0.6693 0.6983 0.7514 0.6945 0.7483 0.4709 0.6771 0.6968 0.6881 het 2102.58 142 8 120803637 . C G 2102.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.782;DP=142;Dels=0.00;FS=1.414;HRun=0;HaplotypeScore=3.9238;MQ=59.74;MQ0=0;MQRankSum=0.328;QD=14.81;ReadPosRankSum=-0.101;VQSLOD=5.3068;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,82:142:99:2133,0,1491 8 120847188 120847188 T C exonic DSCC1 nonsynonymous SNV DSCC1:NM_024094:exon9:c.A1127G:p.H376R 0.66 0.77 0.73 0.45 0.68 0.66 0.6850 0.7600 0.6810 0.4559 0.6917 0.7074 0.7020 0.6665 0.72 0.77 0.7 0.74 0.68 rs1055130 COSM4383279;COSM150524 1(stomach);1(pancreas);1(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.995 0.234 P -2.32 0.001 N 3.18 0.075 T 4.64 0.000 N 0.061 0.045 -0.981 0.347 T 0.000 0.000 T . . . 0.339 0.127 6.062 0.812 0.131 0.117 0.166 N c -1.018 -0.695 1.000 0.747 0.732 0.924 0 4.22 0.490 3.249 0.509 -0.890 0.027 0.995 0.385 0.920 0.395 12.007 0.524 . . . 0.6842 0.7636 0.6837 0.7539 0.4592 0.6933 0.7032 0.7120 0.6684 0.6984 0.7515 0.6974 0.7483 0.4690 0.6766 0.6970 0.6867 het 1362.51 131 8 120847188 . T C 1362.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.875;DP=131;Dels=0.00;FS=2.244;HRun=0;HaplotypeScore=5.7298;MQ=58.45;MQ0=0;MQRankSum=1.302;QD=10.40;ReadPosRankSum=-0.102;VQSLOD=5.0261;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,57:131:99:1393,0,1713 8 120940652 120940652 C T exonic DEPTOR synonymous SNV DEPTOR:NM_022783:exon2:c.C135T:p.H45H 0.25 0.38 0.19 0.037 0.24 0.34 0.2673 0.3610 0.1852 0.0247 0.3400 0.2694 0.2980 0.3533 0.3 0.36 0.26 0.3 0.25 rs16893299 COSM3763027 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2599 0.3627 0.1900 0.2993 0.0228 0.3237 0.2609 0.2757 0.3539 0.2839 0.3561 0.2273 0.2980 0.0271 0.3251 0.2634 0.2766 het 910.56 101 8 120940652 . C T 910.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.226;DP=101;Dels=0.00;FS=0.774;HRun=0;HaplotypeScore=6.8433;MQ=58.19;MQ0=0;MQRankSum=0.936;QD=9.02;ReadPosRankSum=-0.978;VQSLOD=4.3759;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,38:101:99:941,0,1624 8 121013770 121013770 A G exonic DEPTOR nonsynonymous SNV DEPTOR:NM_001283012:exon3:c.A308G:p.N103S,DEPTOR:NM_022783:exon5:c.A611G:p.N204S 0.64 0.47 0.72 0.71 0.73 0.65 0.7032 0.5050 0.7361 0.7150 0.7455 0.7365 0.6876 0.6474 0.65 0.51 0.72 0.62 0.69 rs2271900 . . . . . . . . . . . . . 0.214 0.193 T 0.507 0.354 P 0.338 0.405 B 0.000 0.843 D 0.000 0.530 P 1.87 0.498 L 2.49 0.145 T -0.99 0.262 N 0.049 0.234 -1.122 0.022 T 0.000 0.000 T . . . 0.933 0.183 10.27 0.997 0.818 0.948 0.621 D c -0.138 -0.023 1.000 0.747 0.615 0.372 0 3.58 0.400 4.752 0.616 1.199 0.960 1.000 0.715 0.998 0.697 8.909 0.345 DEP domain|Winged helix-turn-helix DNA-binding domain . . 0.7092 0.5064 0.7394 0.7492 0.7165 0.7471 0.7310 0.7369 0.6484 0.6582 0.5006 0.7361 0.7433 0.7075 0.7330 0.7192 0.7092 hom 1780.64 60 8 121013770 . A G 1780.64 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3670;MQ=60.18;MQ0=0;QD=29.68;VQSLOD=8.1607;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1814,138,0 8 121061879 121061879 G A exonic DEPTOR nonsynonymous SNV DEPTOR:NM_001283012:exon7:c.G863A:p.S288N,DEPTOR:NM_022783:exon9:c.G1166A:p.S389N 0.3 0.12 0.48 0.55 0.33 0.12 0.3201 0.1511 0.4717 0.5743 0.3004 0.3350 0.2963 0.1364 0.26 0.15 0.32 0.29 0.34 rs4871827 COSM3736458 1(skin);1(large_intestine) . . . . . . . . . . . 0.085 0.327 T 0.11 0.246 B 0.037 0.218 B 0.000 0.843 D 0.000 0.588 P 1.645 0.421 L 1.54 0.301 T -1.54 0.373 N 0.166 0.259 -0.902 0.478 T 0.000 0.000 T . . . 2.910 0.410 21.9 0.996 0.736 0.983 0.808 D c 0.202 0.359 1.000 0.747 0.520 0.209 0 6.01 0.974 9.493 0.969 1.044 0.665 1.000 0.715 1.000 0.888 20.116 0.979 PDZ domain . . 0.3299 0.1492 0.4601 0.3587 0.5784 0.2989 0.3319 0.3538 0.1402 0.2818 0.1519 0.4279 0.3377 0.5820 0.2926 0.3136 0.2782 het 3923.40 230 8 121061879 . G A 3923.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.434;DP=230;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;MQRankSum=0.236;QD=17.06;ReadPosRankSum=-0.112;VQSLOD=7.2104;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:106,124:230:99:3324,0,3049 8 121530190 121530190 A G exonic MTBP synonymous SNV MTBP:NM_022045:exon19:c.A2346G:p.E782E 0.48 0.15 0.61 0.58 0.69 0.52 0.6014 0.2190 0.5925 0.5982 0.6734 0.6653 0.6449 0.5609 0.52 0.23 0.67 0.42 0.62 rs13258848 COSM4162636 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6096 0.2124 0.5912 0.6740 0.6054 0.6606 0.6668 0.6416 0.5590 0.5312 0.2166 0.5839 0.6767 0.6133 0.6616 0.6639 0.6191 het 1034.37 56 8 121530190 . A G 1034.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.932;DP=56;Dels=0.00;FS=4.077;HRun=0;HaplotypeScore=1.9265;MQ=58.15;MQ0=0;MQRankSum=-0.865;QD=18.47;ReadPosRankSum=1.419;VQSLOD=3.7268;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,37:56:99:1064,0,460 8 123966159 123966159 G C exonic ZHX2 synonymous SNV ZHX2:NM_014943:exon3:c.G2409C:p.A803A 0.47 0.48 0.4 0.74 0.34 0.34 0.4003 0.4825 0.4391 0.7184 0.3835 0.3577 0.3989 0.3341 0.4 0.49 0.35 0.53 0.31 rs3802265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4016 0.4866 0.4389 0.3531 0.7156 0.3776 0.3580 0.3984 0.3344 0.4227 0.4753 0.4426 0.3212 0.7176 0.3710 0.3751 0.3980 hom 2436.21 75 8 123966159 . G C 2436.21 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8287;MQ=60.00;MQ0=0;QD=32.48;VQSLOD=8.8682;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2469,193,0 8 124121798 124121798 A G exonic TBC1D31 synonymous SNV TBC1D31:NM_001330606:exon9:c.A1059G:p.A353A,TBC1D31:NM_001145088:exon10:c.A1374G:p.A458A,TBC1D31:NM_145647:exon10:c.A1374G:p.A458A 0.29 0.39 0.36 0.15 0.29 0.26 0.2901 0.3777 0.2881 0.1499 0.3453 0.3003 0.3062 0.2458 0.32 0.37 0.3 0.3 0.28 rs16897969 COSM3763030 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2885 0.3809 0.2859 0.2547 0.1511 0.3539 0.2991 0.2964 0.2462 0.3231 0.3625 0.2709 0.2483 0.1364 0.3391 0.3226 0.3014 het 2780.29 223 8 124121798 . A G 2780.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.158;DP=223;Dels=0.00;FS=3.771;HRun=0;HaplotypeScore=8.6508;MQ=58.82;MQ0=0;MQRankSum=0.483;QD=12.47;ReadPosRankSum=0.116;VQSLOD=4.7121;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,123:223:99:2810,0,2372 8 124138855 124138855 G A exonic TBC1D31 synonymous SNV TBC1D31:NM_001330606:exon12:c.G1497A:p.L499L,TBC1D31:NM_001145088:exon13:c.G1812A:p.L604L,TBC1D31:NM_145647:exon13:c.G1812A:p.L604L 0.3 0.39 0.37 0.18 0.25 0.29 0.2828 0.3837 0.4005 0.1981 0.2530 0.2575 0.2555 0.2969 0.3 0.38 0.26 0.32 0.2 rs16898012 COSM3763031 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2851 0.3864 0.4030 0.2542 0.1934 0.2439 0.2570 0.2769 0.3008 0.2964 0.3942 0.4045 0.2318 0.1949 0.2536 0.2571 0.2755 het 1096.11 99 8 124138855 . G A 1096.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.570;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9992;MQ=58.24;MQ0=0;MQRankSum=0.648;QD=11.07;ReadPosRankSum=0.202;VQSLOD=6.2966;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,42:99:99:1126,0,1506 8 124142489 124142489 T C exonic TBC1D31 synonymous SNV TBC1D31:NM_001330606:exon15:c.T2007C:p.D669D,TBC1D31:NM_001145088:exon16:c.T2322C:p.D774D,TBC1D31:NM_145647:exon16:c.T2322C:p.D774D 0.34 0.42 0.43 0.18 0.34 0.3 0.3500 0.4266 0.4367 0.2015 0.3873 0.3488 0.3491 0.3087 0.37 0.43 0.35 0.35 0.29 rs2272724 COSM3982379 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3519 0.4295 0.4374 0.3150 0.1967 0.3869 0.3473 0.3504 0.3115 0.3748 0.4323 0.4487 0.3013 0.1994 0.3936 0.3539 0.3635 hom 3418.20 114 8 124142489 . T C 3418.20 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.98;VQSLOD=13.1388;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3418,268,0 8 124206324 124206324 G A exonic FAM83A nonsynonymous SNV FAM83A:NM_001288587:exon2:c.G541A:p.A181T,FAM83A:NM_001321630:exon3:c.G709A:p.A237T,FAM83A:NM_032899:exon4:c.G709A:p.A237T,FAM83A:NM_207006:exon4:c.G709A:p.A237T 0.16 0.022 0.2 0.21 0.2 0.2 0.1935 0.0512 0.2209 0.2385 0.2097 0.2027 0.1905 0.1970 0.16 0.058 0.21 0.15 0.13 rs7813708 COSM3763033;COSM3763032;COSM3763034 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.313 0.311 B 0.03 0.225 B 0.010 0.303 N 1.000 0.207 P 0.53 0.137 N 2.83 0.108 T 1.04 0.013 N 0.031 0.030 -0.952 0.406 T 0.000 0.000 T . . . 1.351 0.226 12.53 0.857 0.155 0.163 0.191 N c -0.837 -0.746 1.000 0.458 0.497 0.185 0 1.17 0.199 1.458 0.346 0.953 0.551 0.875 0.306 0.963 0.446 14.856 0.698 . ENSG00000204949.4|ENSG00000147689.12 Esophagus_Mucosa|Testis 0.1987 0.0482 0.2320 0.2332 0.2348 0.2001 0.2010 0.1956 0.1975 0.1663 0.0549 0.2536 0.2285 0.2311 0.2042 0.2059 0.2179 het 1316.97 99 8 124206324 . G A 1316.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.292;DP=99;Dels=0.00;FS=9.516;HRun=0;HaplotypeScore=2.6548;MQ=59.39;MQ0=0;MQRankSum=1.130;QD=13.30;ReadPosRankSum=-0.724;VQSLOD=4.7339;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,50:99:99:1347,0,1280 8 124440174 124440174 A G exonic WDYHV1 nonsynonymous SNV WDYHV1:NM_018024:exon2:c.A94G:p.I32V 0.41 0.34 0.39 0.59 0.31 0.43 0.3803 0.3601 0.4267 0.5559 0.3788 0.3462 0.3631 0.4079 0.36 0.36 0.35 0.37 0.3 rs6999234 COSM1132853 1(pancreas);2(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.007 0.131 B 0.012 0.149 B 0.000 0.473 N 0.036 0.810 P -0.775 0.017 N 2.71 0.121 T 0.53 0.030 N 0.078 0.246 -0.936 0.432 T 0.000 0.000 T . . . 0.142 0.107 4.055 0.508 0.044 0.473 0.277 N c -0.562 -0.313 0.919 0.266 0.651 0.465 0 4.06 0.464 2.817 0.475 1.140 0.893 1.000 0.715 1.000 0.888 6.574 0.216 Protein N-terminal glutamine amidohydrolase\x2c alpha beta roll ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.3823 0.3582 0.4189 0.3883 0.5582 0.3773 0.3419 0.3785 0.4101 0.3574 0.3431 0.3816 0.3841 0.5347 0.3588 0.342 0.3939 hom 5689.83 186 8 124440174 . A G 5689.83 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2770;MQ=58.92;MQ0=0;QD=30.59;VQSLOD=8.2121;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5689,427,0 8 124448736 124448736 A G exonic WDYHV1 nonsynonymous SNV WDYHV1:NM_001283024:exon4:c.A98G:p.N33S,WDYHV1:NM_018024:exon4:c.A278G:p.N93S,WDYHV1:NM_001283027:exon5:c.A74G:p.N25S 0.41 0.34 0.39 0.59 0.31 0.43 0.3797 0.3588 0.4265 0.5568 0.3791 0.3454 0.3631 0.4073 0.36 0.36 0.35 0.36 0.3 rs7014678 COSM150532 1(stomach);1(oesophagus);1(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.497 N 1.000 0.588 P 0.025 0.080 N 2.4 0.156 T 0.83 0.023 N 0.022 0.023 -0.919 0.456 T 0.000 0.000 T . . . 0.288 0.122 5.581 0.280 0.014 0.141 0.180 N c -0.830 -0.582 0.051 0.149 0.706 0.609 0 3.94 0.446 1.737 0.376 0.076 0.183 1.000 0.715 0.996 0.625 4.763 0.124 Protein N-terminal glutamine amidohydrolase\x2c alpha beta roll ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.3813 0.3579 0.4164 0.3864 0.5546 0.3772 0.3412 0.3779 0.4051 0.3577 0.3436 0.3816 0.3841 0.5362 0.3594 0.3420 0.3939 hom 4631.92 143 8 124448736 . A G 4631.92 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.078;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.71;MQ0=0;MQRankSum=-0.521;QD=32.39;ReadPosRankSum=-1.441;VQSLOD=9.1966;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,142:143:99:4596,323,0 8 124448804 124448804 T A exonic WDYHV1 nonsynonymous SNV WDYHV1:NM_001283024:exon4:c.T166A:p.F56I,WDYHV1:NM_018024:exon4:c.T346A:p.F116I,WDYHV1:NM_001283027:exon5:c.T142A:p.F48I 0.41 0.34 0.39 0.59 0.31 0.43 0.3798 0.3588 0.4266 0.5567 0.3787 0.3456 0.3634 0.4073 0.36 0.36 0.35 0.37 0.3 rs6470147 COSM150533 1(stomach);1(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.085 0.461 T 0.092 0.237 B 0.047 0.234 B 0.000 0.537 D 0.018 0.588 P 1.81 0.478 L 2.33 0.165 T -3.4 0.670 D 0.223 0.312 -0.966 0.381 T 0.000 0.000 T . . . 4.079 0.548 23.7 0.972 0.321 0.943 0.604 D c -0.137 -0.008 0.905 0.262 0.706 0.609 0 4.42 0.526 3.389 0.520 0.079 0.188 1.000 0.715 0.993 0.574 7.202 0.249 Protein N-terminal glutamine amidohydrolase\x2c alpha beta roll ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.3815 0.3580 0.4166 0.3863 0.5548 0.3773 0.3413 0.3785 0.4053 0.3576 0.3431 0.3816 0.3841 0.5349 0.3598 0.3422 0.3932 hom 4664.37 149 8 124448804 . T A 4664.37 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9317;MQ=58.97;MQ0=0;QD=31.30;VQSLOD=8.6190;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4664,367,0 8 124449466 124449466 C T exonic WDYHV1 nonsynonymous SNV WDYHV1:NM_001283024:exon5:c.C220T:p.R74C,WDYHV1:NM_018024:exon5:c.C400T:p.R134C,WDYHV1:NM_001283027:exon6:c.C196T:p.R66C 0.41 0.34 0.39 0.59 0.31 0.43 0.3797 0.3593 0.4267 0.5556 0.3787 0.3455 0.3631 0.4073 0.36 0.36 0.35 0.37 0.3 rs3824250 COSM3763035 1(breast);1(large_intestine) . . . . . . . . . . . 0.049 0.398 D 0.99 0.615 D 0.659 0.509 P 0.000 0.559 D 0.000 0.810 P 1.79 0.469 L 2.24 0.179 T -2.1 0.518 N 0.249 0.403 -0.919 0.457 T 0.000 0.000 T . . . 7.236 0.946 34 0.999 0.988 0.733 0.356 D c 0.438 0.446 1.000 0.747 0.706 0.609 0 5.48 0.806 2.118 0.413 0.807 0.329 0.995 0.385 0.981 0.494 13.822 0.627 Protein N-terminal glutamine amidohydrolase\x2c alpha beta roll ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2|ENSG00000156795.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.3813 0.3580 0.4165 0.3861 0.5544 0.3773 0.3413 0.3783 0.4051 0.3580 0.3439 0.3810 0.3867 0.5360 0.3594 0.3424 0.3959 hom 2588.53 87 8 124449466 . C T 2588.53 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9621;MQ=58.50;MQ0=0;QD=29.75;VQSLOD=8.3069;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2622,199,0 8 124553222 124553222 G C exonic FBXO32 synonymous SNV FBXO32:NM_001242463:exon1:c.C33G:p.P11P,FBXO32:NM_058229:exon1:c.C33G:p.P11P 0.12 0.13 0.2 0.022 0.2 0.081 0.1759 0.1477 0.2255 0.0192 0.2592 0.2038 0.1525 0.0965 0.17 0.13 0.19 0.022 0.25 rs4871385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1759 0.1484 0.2222 0.1029 0.0182 0.2615 0.2024 0.1675 0.0941 0.1907 0.1445 0.1938 0.1093 0.0173 0.2613 0.2208 0.1990 het 316.19 62 8 124553222 . G C 316.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.492;DP=62;Dels=0.00;FS=8.110;HRun=3;HaplotypeScore=1.8188;MQ=59.33;MQ0=0;MQRankSum=0.831;QD=5.10;ReadPosRankSum=0.121;VQSLOD=2.4241;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,19:62:99:346,0,1100 8 124658214 124658214 C T exonic KLHL38 nonsynonymous SNV KLHL38:NM_001081675:exon3:c.G1511A:p.C504Y 0.038 0.0053 0.071 . 0.12 0.021 0.0786 0.0171 0.0567 0.0002 0.1100 0.1104 0.0956 0.0299 0.083 0.02 0.11 0.022 0.082 rs11779866 . . . . . . . . . . . . . 0.001 0.784 D 0.99 0.615 D 0.825 0.575 P 0.000 0.843 D 0.000 0.588 P 2.74 0.803 M -1.14 0.779 T -3.16 0.642 D 0.35 0.411 -0.751 0.579 T 0.028 0.118 T . . . 5.736 0.783 26.9 0.997 0.839 0.962 0.678 D c 0.615 0.596 1.000 0.747 0.447 0.083 0 5.18 0.710 5.999 0.701 0.935 0.490 1.000 0.715 0.957 0.436 18.693 0.915 Kelch-type beta propeller . . 0.0788 0.0151 0.0575 0.1190 0.0002 0.1014 0.1100 0.1082 0.0320 0.0742 0.0200 0.0707 0.1026 0 0.0970 0.1075 0.0815 het 1419.70 106 8 124658214 . C T 1419.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.756;DP=106;Dels=0.00;FS=1.597;HRun=0;HaplotypeScore=6.1683;MQ=59.39;MQ0=0;MQRankSum=0.769;QD=13.39;ReadPosRankSum=1.269;VQSLOD=4.9106;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,56:106:99:1450,0,1436 8 124664130 124664130 C T exonic KLHL38 nonsynonymous SNV KLHL38:NM_001081675:exon1:c.G1037A:p.R346K 0.71 0.66 0.69 0.71 0.8 0.68 0.7490 0.6832 0.6493 0.7012 0.7807 0.7930 0.7522 0.6922 0.76 0.71 0.79 0.74 0.78 rs11780509 COSM4162651 1(thyroid) . . . . . . . . . . . 0.617 0.053 T 0.0 0.026 B 0.001 0.040 B 0.050 0.231 N 1 0.090 P -0.935 0.013 N -0.17 0.656 T -0.03 0.075 N 0.003 0.000 -0.951 0.408 T 0.000 0.000 T . . . -0.754 0.042 0.054 0.838 0.144 0.050 0.107 N c -0.985 -0.886 1.000 0.417 0.487 0.133 0 -0.060 0.131 1.257 0.323 -0.032 0.126 0.523 0.269 0.007 0.100 4.716 0.122 Kelch-type beta propeller . . 0.7455 0.6842 0.6459 0.8041 0.6985 0.7819 0.7925 0.7499 0.6951 0.7529 0.6941 0.6766 0.8245 0.7176 0.7858 0.7845 0.7780 het 1925.86 153 8 124664130 . C T 1925.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.746;DP=153;Dels=0.00;FS=1.321;HRun=1;HaplotypeScore=4.5844;MQ=59.28;MQ0=0;MQRankSum=-1.960;QD=12.59;ReadPosRankSum=0.350;VQSLOD=4.7289;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,69:153:99:1956,0,2238 8 124664167 124664167 T C exonic KLHL38 nonsynonymous SNV KLHL38:NM_001081675:exon1:c.A1000G:p.I334V 0.73 0.66 0.71 0.71 0.86 0.7 0.7908 0.6952 0.6709 0.7007 0.8349 0.8494 0.7833 0.7247 0.81 0.72 0.85 0.75 0.84 rs11784192 . . . . . . . . . . . . . 0.526 0.071 T 0.0 0.026 B 0.007 0.121 B 0.086 0.206 N 1 0.090 P 0.34 0.105 N -0.32 0.682 T -0.38 0.134 N 0.03 0.011 -0.933 0.438 T 0.000 0.000 T . . . -3.100 0.001 0.001 0.445 0.034 0.033 0.083 N c -1.885 -1.886 1.000 0.448 0.487 0.133 0 -2.96 0.052 -1.021 0.037 -2.406 0.003 0.002 0.151 0.639 0.296 14.820 0.696 Kelch-type beta propeller . . 0.7877 0.6950 0.6671 0.8735 0.6991 0.8344 0.8503 0.7936 0.7259 0.7935 0.7047 0.6993 0.8974 0.7182 0.8420 0.8433 0.8204 hom 3701.52 116 8 124664167 . T C 3701.52 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.25;MQ0=0;QD=31.91;VQSLOD=9.5393;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,115:116:99:3701,319,0 8 124664594 124664594 C T exonic KLHL38 synonymous SNV KLHL38:NM_001081675:exon1:c.G573A:p.G191G 0.019 0.0038 0.022 . 0.056 0.02 0.0419 0.0120 0.0213 0 0.0529 0.0567 0.0317 0.0324 0.041 0.011 0.057 0.011 0.066 rs61730397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0420 0.0107 0.0212 0.0695 0 0.0513 0.0582 0.0422 0.0307 0.0402 0.0107 0.0239 0.0728 0 0.0547 0.0585 0.0418 het 1757.53 161 8 124664594 . C T 1757.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.290;DP=161;Dels=0.00;FS=5.883;HRun=0;HaplotypeScore=3.7605;MQ=59.60;MQ0=0;MQRankSum=-0.086;QD=10.92;ReadPosRankSum=-0.481;VQSLOD=4.6900;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,66:161:99:1788,0,2703 8 124664792 124664792 C T exonic KLHL38 synonymous SNV KLHL38:NM_001081675:exon1:c.G375A:p.S125S 0.71 0.67 0.69 0.71 0.8 0.68 0.7494 0.6899 0.6481 0.7000 0.7807 0.7930 0.7522 0.6922 0.76 0.71 0.79 0.73 0.79 rs7387544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7458 0.6898 0.6453 0.8041 0.6986 0.7817 0.7925 0.7496 0.6951 0.7550 0.7007 0.6782 0.8245 0.7199 0.7858 0.7847 0.7780 het 1070.99 76 8 124664792 . C T 1070.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.235;DP=76;Dels=0.00;FS=0.940;HRun=0;HaplotypeScore=4.2737;MQ=58.90;MQ0=0;MQRankSum=-1.012;QD=14.09;ReadPosRankSum=0.492;VQSLOD=5.5325;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,39:76:99:1101,0,825 8 124664873 124664873 A G exonic KLHL38 synonymous SNV KLHL38:NM_001081675:exon1:c.T294C:p.H98H 0.73 0.67 0.71 0.71 0.86 0.7 0.7903 0.7010 0.6670 0.6989 0.8345 0.8485 0.7812 0.7245 0.8 0.71 0.84 . 0.85 rs7387792 COSM4006836 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7879 0.7006 0.6666 0.8734 0.6986 0.8344 0.8502 0.7934 0.7259 0.7946 0.7100 0.6986 0.8933 0.7166 0.8420 0.8428 0.8203 hom 2277.08 65 8 124664873 . A G 2277.08 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=35.03;VQSLOD=9.3938;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2310,181,0 8 124664874 124664874 T C exonic KLHL38 nonsynonymous SNV KLHL38:NM_001081675:exon1:c.A293G:p.H98R 0.73 0.67 0.71 0.71 0.86 0.7 0.7900 0.6996 0.6662 0.6989 0.8343 0.8485 0.7808 0.7245 0.8 0.72 0.84 . 0.85 rs7386562 COSM4006837 2(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 0.585 0.059 T 0.0 0.026 B 0.0 0.013 B 0.207 0.034 N 1 0.090 P -0.15 0.043 N -0.19 0.659 T 0.53 0.028 N 0.015 0.002 -0.982 0.346 T 0.000 0.000 T . . . -3.201 0.001 0.001 0.408 0.029 0.059 0.117 N c -1.758 -1.863 1.000 0.747 0.487 0.133 0 -10.7 0.002 -0.173 0.098 -1.717 0.007 0.000 0.063 0.000 0.016 0.683 0.008 BTB/POZ domain|SKP1/BTB/POZ domain . . 0.7878 0.6995 0.6664 0.8734 0.6987 0.8343 0.8502 0.7933 0.7259 0.7943 0.7093 0.6986 0.8933 0.7154 0.8420 0.8428 0.8203 hom 2085.81 66 8 124664874 . T C 2085.81 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=31.60;VQSLOD=8.3526;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2119,177,0 8 124665124 124665124 C T exonic KLHL38 nonsynonymous SNV KLHL38:NM_001081675:exon1:c.G43A:p.D15N 0.019 0.0038 0.022 . 0.056 0.02 0.0425 0.0121 0.0212 0 0.0531 0.0571 0.0321 0.0345 0.042 0.01 0.058 0.011 0.066 rs61910739 COSM3763037 1(large_intestine) . . . . . . . . . . . 0.24 0.177 T 0.021 0.172 B 0.004 0.093 B 0.000 0.559 N 0.903 0.276 N 0.96 0.240 L -0.46 0.700 T -0.68 0.195 N 0.002 0.000 -1.069 0.097 T 0.022 0.095 T . . . 0.118 0.105 3.798 0.960 0.280 0.943 0.606 D c -0.652 -0.590 1.000 0.747 0.487 0.133 0 2.68 0.307 3.834 0.553 0.077 0.185 0.998 0.411 0.098 0.188 6.780 0.227 SKP1/BTB/POZ domain . . 0.0418 0.0106 0.0211 0.0690 0 0.0557 0.0579 0.0424 0.0306 0.0401 0.0108 0.0239 0.0728 0 0.0547 0.0583 0.0418 het 1861.79 124 8 124665124 . C T 1861.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.742;DP=124;Dels=0.00;FS=3.397;HRun=1;HaplotypeScore=1.7882;MQ=58.90;MQ0=0;MQRankSum=1.720;QD=15.01;ReadPosRankSum=-1.826;VQSLOD=4.5769;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,69:124:99:1892,0,1332 8 124696867 124696867 C T exonic ANXA13 nonsynonymous SNV ANXA13:NM_004306:exon10:c.G814A:p.V272I,ANXA13:NM_001003954:exon11:c.G937A:p.V313I 0.7 0.94 0.66 0.5 0.56 0.74 0.6241 0.8845 0.6041 0.4984 0.6272 0.5841 0.6256 0.6998 0.68 0.87 0.58 0.71 0.59 rs2294015 . . . . . . . Event-related brain oscillations . .21 21184583 rs2294015 9E-6 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.020 0.272 N 1 0.090 P -0.975 0.012 N 4.04 0.032 T -0.13 0.090 N 0.058 0.041 -1.029 0.207 T 0.000 0.000 T . . . 0.698 0.161 8.814 0.515 0.045 0.076 0.135 N c -1.073 -0.919 1.000 0.458 0.497 0.185 0 0.118 0.139 0.738 0.256 0.154 0.240 1.000 0.715 0.902 0.382 1.559 0.024 Annexin repeat\x2c conserved site . . 0.6169 0.8877 0.6088 0.5361 0.4961 0.6228 0.5848 0.6204 0.6964 0.6786 0.8756 0.6492 0.5596 0.5117 0.6245 0.6008 0.6459 hom 5213.94 166 8 124696867 . C T 5213.94 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.31;MQ0=1;QD=31.41;VQSLOD=9.2030;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5213,415,0 8 124710729 124710729 C T exonic ANXA13 nonsynonymous SNV ANXA13:NM_004306:exon4:c.G257A:p.R86H,ANXA13:NM_001003954:exon5:c.G380A:p.R127H 0.23 0.21 0.21 0.19 0.34 0.21 0.2816 0.2025 0.1628 0.1760 0.3710 0.3336 0.2863 0.2237 0.29 0.21 0.34 0.27 0.34 rs2294013 COSM4162652 1(thyroid) . . . . . . . . . . . 0.031 0.477 D 0.002 0.172 B 0.003 0.166 B 0.007 0.314 N 1.000 0.189 P 1.555 0.395 L 3.56 0.221 T -1.11 0.287 N 0.114 0.124 -0.942 0.423 T 0.000 0.000 T . . . 2.817 0.399 21.5 0.992 0.557 0.046 0.101 N c -0.744 -0.740 1.000 0.517 0.549 0.223 0 -0.199 0.125 0.130 0.156 0.059 0.165 0.005 0.169 0.955 0.433 6.870 0.231 Annexin repeat\x2c conserved site . . 0.2801 0.2003 0.1683 0.3604 0.1762 0.3611 0.3314 0.3133 0.2238 0.2871 0.2070 0.2069 0.3278 0.1724 0.3483 0.3347 0.2986 het 2676.70 211 8 124710729 . C T 2676.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.943;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6946;MQ=59.37;MQ0=0;MQRankSum=-0.848;QD=12.69;ReadPosRankSum=-2.177;VQSLOD=5.4849;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:105,105:211:99:2707,0,2559 8 124824826 124824826 G A exonic FAM91A1 nonsynonymous SNV FAM91A1:NM_001317917:exon24:c.G1673A:p.C558Y,FAM91A1:NM_144963:exon24:c.G2399A:p.C800Y 1. 1. 1. 1. 0.99 1. 0.9953 0.9991 0.9956 1 0.9959 0.9932 0.9944 0.9986 0.99 1. 0.99 0.95 0.99 rs1946586 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.306 0.145 N 1 0.090 P 0 0.065 N 1.58 0.291 T 1.15 0.012 N 0.015 0.041 -0.751 0.579 T 0.000 0.000 T . . . -3.359 0.001 0.001 0.153 0.004 0.034 0.084 N c -1.973 -2.039 1.000 0.747 0.707 0.730 0 -11.8 0.000 -0.609 0.057 -1.029 0.021 0.000 0.063 0.037 0.154 20.100 0.979 FAM91\x2c C-terminal domain . . 0.9951 0.9991 0.9948 0.9986 1 0.9958 0.9926 0.9950 0.9985 0.9954 0.9974 0.9881 1 1 0.9957 0.9941 0.9949 hom 3125.29 110 8 124824826 . G A 3125.29 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2424;MQ=42.79;MQ0=2;QD=28.41;VQSLOD=2.2032;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3158,262,0 8 124987478 124987478 T C exonic FER1L6 synonymous SNV FER1L6:NM_001039112:exon8:c.T615C:p.S205S 0.4 0.4 0.36 0.44 0.49 0.28 0.4319 0.4396 0.3250 0.4324 0.4832 0.4791 0.4566 0.2891 0.45 0.43 0.46 0.5 0.44 rs7465584 COSM3763039 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4266 0.4411 0.3329 0.4054 0.4334 0.4791 0.4812 0.4397 0.2860 0.4743 0.4455 0.3636 0.3867 0.4391 0.5023 0.4956 0.4836 het 2726.54 250 8 124987478 . T C 2726.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.115;DP=250;DS;Dels=0.00;FS=4.394;HRun=0;HaplotypeScore=8.1489;MQ=59.74;MQ0=0;MQRankSum=-2.178;QD=10.91;ReadPosRankSum=1.324;VQSLOD=2.8120;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:137,112:250:99:2757,0,3702 8 125035788 125035788 G C exonic FER1L6 synonymous SNV FER1L6:NM_001039112:exon18:c.G2238C:p.A746A 0.55 0.68 0.39 0.52 0.59 0.48 0.5422 0.6369 0.2950 0.5194 0.5875 0.5842 0.56 0.4822 0.61 0.65 0.6 0.59 0.55 rs4358790 COSM150538 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5317 0.6347 0.3057 0.6275 0.5139 0.5872 0.5819 0.5462 0.4815 0.5984 0.6489 0.3441 0.5993 0.5167 0.5875 0.5966 0.5684 het 1440.88 122 8 125035788 . G C 1440.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.622;DP=122;Dels=0.00;FS=3.709;HRun=1;HaplotypeScore=3.6117;MQ=58.88;MQ0=0;MQRankSum=1.975;QD=11.81;ReadPosRankSum=1.470;VQSLOD=4.8190;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,56:122:99:1471,0,1696 8 125061895 125061895 G A exonic FER1L6 synonymous SNV FER1L6:NM_001039112:exon22:c.G2772A:p.K924K 0.48 0.5 0.45 0.51 0.49 0.44 0.4721 0.4790 0.3888 0.5055 0.4483 0.4923 0.4822 0.4361 0.49 0.47 0.5 0.45 0.48 rs4870887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4690 0.4747 0.3970 0.5215 0.4995 0.4490 0.4942 0.4801 0.4320 0.4856 0.4834 0.3897 0.5 0.4801 0.4495 0.5031 0.4521 het 900.61 66 8 125061895 . G A 900.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.406;DP=66;Dels=0.00;FS=0.974;HRun=2;HaplotypeScore=3.5047;MQ=59.01;MQ0=0;MQRankSum=0.006;QD=13.65;ReadPosRankSum=0.006;VQSLOD=6.0985;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,34:66:99:931,0,799 8 125072426 125072426 T C exonic FER1L6 synonymous SNV FER1L6:NM_001039112:exon23:c.T2880C:p.P960P 0.81 0.87 0.74 0.69 0.87 0.83 0.8301 0.8617 0.6860 0.7012 0.8792 0.8612 0.8481 0.8335 0.86 0.87 0.86 0.9 0.88 rs4483140 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8232 0.8608 0.6953 0.8467 0.6874 0.8766 0.8614 0.8329 0.8340 0.8485 0.8623 0.7158 0.8411 0.6669 0.8773 0.8592 0.8737 hom 8122.18 250 8 125072426 . T C 8122.18 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.3246;MQ=59.23;MQ0=0;QD=32.49;VQSLOD=8.4218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8122,620,0 8 125076589 125076589 T G exonic FER1L6 nonsynonymous SNV FER1L6:NM_001039112:exon26:c.T3330G:p.D1110E 0.77 0.77 0.71 0.67 0.87 0.82 0.8177 0.7834 0.6458 0.6825 0.8795 0.8606 0.8433 0.8299 0.84 0.81 0.86 0.86 0.85 rs7012186 COSM5431638 1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N -1.39 0.804 T 0.18 0.050 N 0.007 0.002 -0.953 0.405 T 0.000 0.000 T . . . -1.989 0.008 0.001 0.444 0.034 0.024 0.068 N c -1.983 -2.019 0.856 0.251 0.487 0.133 0 -6.3 0.018 -0.291 0.083 -2.991 0.001 0.000 0.063 0.000 0.016 0.525 0.006 . ENSG00000164983.6 Cells_Transformed_fibroblasts 0.8107 0.7810 0.6569 0.8450 0.6695 0.8772 0.8605 0.8245 0.8298 0.8246 0.7854 0.6882 0.8411 0.6438 0.8777 0.8590 0.8646 hom 6885.14 229 8 125076589 . T G 6885.14 Mask AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8295;MQ=58.79;MQ0=0;QD=30.07;VQSLOD=9.2301;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:6884,518,0 8 125107201 125107201 G A exonic FER1L6 synonymous SNV FER1L6:NM_001039112:exon35:c.G4617A:p.P1539P 0.72 0.61 0.68 0.64 0.87 0.82 0.7988 0.6164 0.6312 0.6582 0.8744 0.8584 0.8241 0.8249 0.79 0.65 0.86 0.75 0.88 rs6470219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7944 0.6126 0.6447 0.8385 0.6449 0.8718 0.8586 0.8144 0.8252 0.7758 0.6250 0.6751 0.8333 0.6174 0.8741 0.8567 0.8555 hom 5816.82 178 8 125107201 . G A 5816.82 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5812;MQ=58.32;MQ0=0;QD=32.68;VQSLOD=8.7383;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5816,451,0 8 125107207 125107207 C T exonic FER1L6 synonymous SNV FER1L6:NM_001039112:exon35:c.C4623T:p.V1541V 0.76 0.73 0.7 0.66 0.87 0.82 0.8116 0.7414 0.6378 0.6733 0.8787 0.8589 0.8352 0.8279 0.83 0.76 0.86 0.84 0.87 rs6470220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8056 0.7409 0.6508 0.8394 0.6615 0.8762 0.8591 0.8204 0.8287 0.8125 0.7478 0.6787 0.8333 0.6412 0.8766 0.8573 0.8658 hom 5498.14 169 8 125107207 . C T 5498.14 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=58.64;MQ0=0;QD=32.53;VQSLOD=9.6105;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5498,430,0 8 125463250 125463250 T C exonic TRMT12 nonsynonymous SNV TRMT12:NM_017956:exon1:c.T82C:p.W28R 0.57 0.78 0.48 0.44 0.49 0.56 0.5124 0.7220 0.4552 0.4562 0.5327 0.4856 0.5077 0.5501 0.55 0.69 0.47 0.59 0.39 rs3812475 COSM4162654 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.024 0.264 N 1.000 0.090 P -2.38 0.001 N 1.13 0.386 T 1.59 0.007 N 0.049 0.036 -0.963 0.386 T 0.000 0.000 T . . . -0.449 0.058 0.293 0.731 0.099 0.005 0.022 N c -1.067 -0.791 1.000 0.747 0.733 0.969 0 5.15 0.702 0.552 0.229 0.027 0.148 0.633 0.278 0.657 0.300 10.538 0.440 . ENSG00000183665.4|ENSG00000183665.4|ENSG00000183665.4|ENSG00000245149.3|ENSG00000183665.4|ENSG00000245149.3|ENSG00000183665.4|ENSG00000183665.4|ENSG00000183665.4|ENSG00000183665.4|ENSG00000183665.4 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Whole_Blood 0.5027 0.7219 0.4527 0.5050 0.4534 0.5192 0.4803 0.5049 0.5441 0.5465 0.7159 0.4988 0.5364 0.4515 0.5201 0.4703 0.5010 het 1517.18 119 8 125463250 . T C 1517.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.503;DP=119;Dels=0.00;FS=6.349;HRun=0;HaplotypeScore=4.7180;MQ=60.00;MQ0=0;MQRankSum=0.057;QD=12.75;ReadPosRankSum=1.128;VQSLOD=4.5874;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,61:119:99:1547,0,1614 8 125498547 125498547 C T exonic RNF139 synonymous SNV RNF139:NM_007218:exon2:c.C657T:p.Y219Y 0.57 0.79 0.48 0.44 0.49 0.56 0.5071 0.7306 0.4519 0.4526 0.5361 0.4780 0.5011 0.5397 0.55 0.7 0.46 0.58 0.41 rs3812471 COSM4162655 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4973 0.7307 0.4500 0.4628 0.4517 0.5224 0.4744 0.4984 0.5336 0.5468 0.7233 0.4988 0.5033 0.4468 0.5209 0.4673 0.5010 het 3060.85 244 8 125498547 . C T 3060.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.210;DP=244;DS;Dels=0.00;FS=3.583;HRun=0;HaplotypeScore=3.3903;MQ=59.23;MQ0=0;MQRankSum=1.377;QD=12.54;ReadPosRankSum=0.712;VQSLOD=5.9171;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:129,115:244:99:3091,0,3353 8 125562029 125562029 C T exonic NDUFB9 nonsynonymous SNV NDUFB9:NM_001278645:exon4:c.C268T:p.P90S,NDUFB9:NM_001278646:exon4:c.C307T:p.P103S,NDUFB9:NM_001311168:exon4:c.C403T:p.P135S,NDUFB9:NM_005005:exon4:c.C436T:p.P146S 0.1 0.13 0.052 0.16 0.091 0.058 0.0926 0.1046 0.0382 0.1703 0.1472 0.0889 0.1104 0.0745 0.09 0.1 0.084 0.11 0.11 rs10195 . . Benign not_specified RCV000127134.1 MedGen CN169374 . . . . . . 0.534 0.071 T 0.007 0.131 B 0.008 0.127 B 0.360 0.137 N 1 0.206 P 1.04 0.263 L -0.53 0.708 T 0.0 0.075 N 0.084 0.078 -1.061 0.116 T 0.001 0.004 T . . . 1.499 0.242 13.31 0.920 0.207 0.301 0.238 N c -0.923 -0.913 1.000 0.747 0.719 0.830 0 -0.336 0.120 -0.509 0.064 0.892 0.403 0.000 0.063 0.047 0.162 16.947 0.860 . . . 0.0919 0.1058 0.0413 0.0540 0.1676 0.1577 0.0889 0.1002 0.0720 0.1055 0.0968 0.0598 0.0596 0.1677 0.1467 0.0983 0.0967 het 1068.86 84 8 125562029 . C T 1068.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.366;DP=84;Dels=0.00;FS=5.683;HRun=0;HaplotypeScore=1.4942;MQ=59.41;MQ0=0;MQRankSum=0.756;QD=12.72;ReadPosRankSum=1.436;VQSLOD=5.5845;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,42:84:99:1099,0,1243 8 125565328 125565328 T C exonic MTSS1 nonsynonymous SNV MTSS1:NM_001282974:exon14:c.A2098G:p.T700A,MTSS1:NM_014751:exon14:c.A2173G:p.T725A,MTSS1:NM_001282971:exon15:c.A2185G:p.T729A 0.16 0.16 0.11 0.16 0.24 0.13 0.1995 0.1490 0.0847 0.1721 0.3060 0.2275 0.2258 0.1686 0.19 0.15 0.22 0.12 0.18 rs3829037 COSM4162657;COSM4162658 1(pancreas);1(thyroid) . . . . . . . . . . . 0.796 0.031 T 0.0 0.102 B 0.001 0.093 B 0.528 0.052 N 1 0.090 P 0.315 0.103 N 0.95 0.433 T -0.56 0.221 N 0.029 0.191 -1.097 0.044 T 0.000 0.000 T . . . -2.711 0.002 0.001 0.442 0.034 0.077 0.136 N c -1.080 -1.174 1.000 0.747 0.672 0.522 0 -4.85 0.029 0.218 0.173 0.148 0.236 0.000 0.063 0.490 0.269 19.568 0.954 WH2 domain ENSG00000183665.4 Whole_Blood 0.1963 0.1492 0.0882 0.2013 0.1686 0.3052 0.2260 0.2032 0.1639 0.2052 0.1402 0.1268 0.2450 0.1663 0.2955 0.2283 0.2276 het 3001.61 250 8 125565328 . T C 3001.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.222;DP=250;DS;Dels=0.00;FS=2.430;HRun=0;HaplotypeScore=4.1747;MQ=59.65;MQ0=0;MQRankSum=0.134;QD=12.01;ReadPosRankSum=0.360;VQSLOD=5.9208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:140,109:250:99:3032,0,3735 8 130789767 130789767 G A exonic GSDMC nonsynonymous SNV GSDMC:NM_031415:exon2:c.C67T:p.P23S 0.014 0.0053 0.023 . 0.04 0.0051 0.0328 0.0093 0.0184 0.0001 0.0517 0.0481 0.0275 0.0059 0.036 0.0086 0.05 . 0.074 rs10090835 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.537 D 1.000 0.090 N 2.82 0.824 M 0.95 0.433 T -7.59 0.953 D 0.29 0.349 -1.008 0.277 T 0.058 0.242 T . . . 3.703 0.502 23.3 0.998 0.847 0.371 0.254 N c 0.233 0.031 0.999 0.396 0.615 0.372 0 4.01 0.457 2.308 0.431 0.998 0.613 0.765 0.291 0.018 0.130 11.813 0.513 . . . 0.0330 0.0077 0.0218 0.0163 5.799e-05 0.0529 0.0502 0.0265 0.0060 0.0348 0.0081 0.0191 0.0166 0 0.0529 0.0502 0.0480 het 2433.65 217 8 130789767 . G A 2433.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.551;DP=217;Dels=0.00;FS=1.057;HRun=0;HaplotypeScore=3.3612;MQ=59.46;MQ0=0;MQRankSum=-0.159;QD=11.21;ReadPosRankSum=-1.921;VQSLOD=5.7830;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:117,100:217:99:2464,0,3095 8 130864456 130864456 A G exonic FAM49B synonymous SNV FAM49B:NM_001330612:exon7:c.T147C:p.T49T,FAM49B:NM_016623:exon8:c.T585C:p.T195T,FAM49B:NM_001256763:exon9:c.T585C:p.T195T 0.024 0.0083 0.019 . 0.076 0.019 0.0440 0.0153 0.0261 0.0001 0.0342 0.0614 0.0513 0.0302 0.046 0.017 0.061 0.054 0.025 rs1051893 COSM3763045 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0416 0.0124 0.0245 0.0671 0.0001 0.0317 0.0590 0.0434 0.0271 0.0364 0.0155 0.0286 0.0695 0 0.0312 0.0530 0.0448 het 1765.81 106 8 130864456 . A G 1765.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.780;DP=106;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.7232;MQ=58.45;MQ0=0;MQRankSum=0.888;QD=16.66;ReadPosRankSum=-1.738;VQSLOD=4.2362;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,68:106:99:1796,0,961 8 131124559 131124559 T C exonic ASAP1 nonsynonymous SNV ASAP1:NM_018482:exon24:c.A2182G:p.I728V,ASAP1:NM_001247996:exon25:c.A2161G:p.I721V 0.47 0.22 0.37 0.72 0.46 0.65 0.4759 0.2727 0.3884 0.6880 0.4585 0.4641 0.4733 0.6081 0.4 0.28 0.46 0.41 0.49 rs966185 COSM150541 1(stomach);1(large_intestine) . . . . . . . . . . . 0.741 0.037 T 0.002 0.112 B 0.002 0.093 B 0.005 0.330 N 0.099 0.362 P 0.69 0.170 N 3.45 0.053 T -0.11 0.087 N 0.039 0.068 -0.982 0.346 T 0.000 0.000 T . . . -0.078 0.086 1.901 0.766 0.112 0.358 0.252 N c -0.489 -0.533 0.999 0.396 0.707 0.730 0 -0.54 0.112 0.627 0.240 0.145 0.233 0.299 0.251 0.965 0.450 9.840 0.400 . . . 0.4730 0.2649 0.3901 0.4919 0.6883 0.4484 0.4613 0.4646 0.6014 0.4102 0.2800 0.3873 0.5232 0.6915 0.4501 0.4421 0.4613 het 900.31 49 8 131124559 . T C 900.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.863;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=58.63;MQ0=0;MQRankSum=0.985;QD=18.37;ReadPosRankSum=0.156;VQSLOD=6.6793;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,31:49:99:930,0,468 8 131921956 131921956 A G exonic ADCY8 synonymous SNV ADCY8:NM_001115:exon6:c.T1638C:p.P546P 0.54 0.33 0.63 0.68 0.7 0.47 0.6348 0.3512 0.6894 0.6891 0.7002 0.6849 0.6589 0.5168 0.57 0.36 0.68 0.5 0.7 rs12547243 COSM3982396 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6437 0.3439 0.6878 0.7069 0.6830 0.6958 0.6836 0.6586 0.5172 0.5891 0.3616 0.6930 0.7167 0.6611 0.6967 0.6763 0.6456 het 2402.47 222 8 131921956 . A G 2402.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.353;DP=222;Dels=0.00;FS=0.515;HRun=3;HaplotypeScore=7.6098;MQ=58.44;MQ0=0;MQRankSum=1.334;QD=10.82;ReadPosRankSum=-1.051;VQSLOD=4.5448;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,104:222:99:2432,0,3159 8 132002770 132002770 G A exonic ADCY8 synonymous SNV ADCY8:NM_001115:exon2:c.C979T:p.L327L 0.31 0.69 0.23 0.077 0.17 0.24 0.2155 0.6434 0.2309 0.0924 0.1317 0.1619 0.2064 0.2505 0.32 0.63 0.16 0.43 0.13 rs2228950 COSM3763047 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2056 0.6474 0.2227 0.1836 0.0955 0.1330 0.1622 0.1855 0.2489 0.2902 0.6298 0.2177 0.2152 0.0925 0.1486 0.1613 0.1602 het 2512.31 241 8 132002770 . G A 2512.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.972;DP=241;DS;Dels=0.00;FS=1.109;HRun=1;HaplotypeScore=8.1943;MQ=59.58;MQ0=0;MQRankSum=0.098;QD=10.42;ReadPosRankSum=0.122;VQSLOD=4.4500;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:137,104:241:99:2542,0,3747 8 133047071 133047071 G A exonic OC90 synonymous SNV OC90:NM_001080399:exon10:c.C690T:p.H230H 0.26 0.17 0.25 0.26 0.31 0.34 0.3125 0.1859 0.2010 0.2658 0.3459 0.3414 0.3103 0.3604 0.28 0.18 0.33 0.22 . rs11779306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3084 0.1848 0.2016 0.2979 0.2637 0.3521 0.3407 0.3115 0.3643 0.2925 0.1846 0.1962 0.2616 0.2624 0.3506 0.3482 0.3327 het 2766.88 201 8 133047071 . G A 2766.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.140;DP=201;Dels=0.00;FS=0.526;HRun=0;HaplotypeScore=9.4165;MQ=59.54;MQ0=0;MQRankSum=0.494;QD=13.77;ReadPosRankSum=-0.821;VQSLOD=3.5977;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,111:201:99:2797,0,2231 8 133053309 133053309 T C exonic OC90 nonsynonymous SNV OC90:NM_001080399:exon6:c.A439G:p.S147G 0.74 0.73 0.77 0.77 0.71 0.72 0.7287 0.7410 0.7832 0.7654 0.7277 0.7150 0.7094 0.7212 0.73 0.75 0.72 0.69 . rs7386782 COSM4006846;COSM4006845 1(urinary_tract);1(thyroid) . . . . . . . . . . . 0.541 0.068 T 0.001 0.067 B 0.001 0.040 B 0.418 0.129 N 1 0.090 P 0.485 0.132 N 1.68 0.272 T -0.92 0.295 N 0.017 0.011 -1.035 0.189 T 0.000 0.000 T . . . -0.736 0.043 0.060 0.489 0.041 0.043 0.097 N c -1.381 -1.367 0.008 0.116 0.554 0.246 0 0.415 0.156 -0.174 0.097 -0.292 0.083 0.011 0.184 0.001 0.043 5.050 0.137 Phospholipase A2 domain . . 0.7309 0.7445 0.7757 0.6890 0.7628 0.7284 0.7160 0.7230 0.7284 0.7347 0.7412 0.7663 0.6846 0.7669 0.7314 0.7272 0.7403 hom 6419.76 209 8 133053309 . T C 6419.76 Mask AC=2;AF=1.00;AN=2;DP=209;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2401;MQ=59.17;MQ0=0;QD=30.72;VQSLOD=8.2749;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,209:209:99:6419,509,0 8 133053318 133053318 T C exonic OC90 nonsynonymous SNV OC90:NM_001080399:exon6:c.A430G:p.N144D 0.74 0.73 0.77 0.77 0.71 0.72 0.7287 0.7410 0.7832 0.7654 0.7277 0.7150 0.7094 0.7203 0.73 0.75 0.72 0.69 . rs7386783 COSM4006848;COSM4006847 1(urinary_tract);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.176 0.172 N 1 0.090 P -0.095 0.047 N 1.75 0.262 T 0.23 0.060 N 0.001 0.000 -0.964 0.384 T 0.000 0.000 T . . . -1.184 0.026 0.007 0.166 0.005 0.193 0.204 N c -1.153 -1.064 0.008 0.117 0.554 0.246 0 1.15 0.198 0.254 0.179 -0.382 0.065 0.829 0.299 0.006 0.095 5.147 0.142 Phospholipase A2 domain . . 0.7309 0.7443 0.7758 0.6890 0.7628 0.7284 0.7160 0.7231 0.7278 0.7348 0.7411 0.7663 0.6846 0.7654 0.7309 0.7276 0.7403 hom 6876.75 230 8 133053318 . T C 6876.75 Mask AC=2;AF=1.00;AN=2;DP=230;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8037;MQ=58.81;MQ0=0;QD=29.90;VQSLOD=5.7516;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:6875,548,0 8 133920518 133920518 A G exonic TG nonsynonymous SNV TG:NM_003235:exon18:c.A3935G:p.D1312G 0.4 0.073 0.58 0.36 0.61 0.53 0.5697 0.1405 0.6989 0.3684 0.6961 0.6263 0.5936 0.5739 0.46 0.16 0.62 0.18 0.7 rs2069556 COSM1454960 1(thyroid) Benign|Likely benign not_specified|Thyroid_dyshormonogenesis RCV000241944.1|RCV000280505.1 MedGen|MedGen CN169374|CN169287 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1.000 0.090 P -2.1 0.002 N 0.19 0.603 T 2.81 0.002 N 0.078 0.089 -0.941 0.425 T 0.000 0.000 T . . . -0.278 0.070 0.745 0.158 0.004 0.038 0.090 N c -1.028 -0.798 0.992 0.325 0.487 0.133 0 5.47 0.803 4.828 0.622 0.138 0.222 1.000 0.715 0.010 0.111 10.526 0.439 . ENSG00000129295.4 Whole_Blood 0.5801 0.1360 0.6764 0.5485 0.3645 0.7002 0.6243 0.6010 0.5755 0.4846 0.1515 0.6539 0.5567 0.3707 0.7022 0.6218 0.6092 hom 1774.16 58 8 133920518 . A G 1774.16 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.075;DP=58;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9734;MQ=55.60;MQ0=0;MQRankSum=1.015;QD=30.59;ReadPosRankSum=-0.896;VQSLOD=6.2912;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,57:58:99:1807,112,0 8 133931748 133931748 T C exonic TG synonymous SNV TG:NM_003235:exon21:c.T4506C:p.A1502A 0.47 0.35 0.61 0.35 0.61 0.53 0.5915 0.3934 0.7111 0.3658 0.6920 0.6251 0.5947 0.5741 0.54 0.4 0.61 0.38 0.7 rs853304 COSM150549 1(stomach);1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Thyroid_dyshormonogenesis RCV000244917.1|RCV000267031.1 MedGen|MedGen CN169374|CN169287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5966 0.3888 0.6888 0.5484 0.3610 0.6969 0.6232 0.6092 0.5758 0.5540 0.3993 0.6639 0.5563 0.3702 0.6958 0.6203 0.6194 hom 3960.58 135 8 133931748 . T C 3960.58 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.37;MQ0=0;QD=29.34;VQSLOD=8.6616;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:3960,316,0 8 133975283 133975283 G A exonic TG nonsynonymous SNV TG:NM_003235:exon29:c.G5512A:p.D1838N 0.35 0.033 0.53 0.35 0.51 0.48 0.4846 0.0964 0.6612 0.3603 0.5724 0.5178 0.4758 0.5016 0.38 0.12 0.51 0.23 0.57 rs2069561 COSM150550 1(stomach);2(pancreas);1(prostate) Benign|Likely benign not_specified|Thyroid_dyshormonogenesis RCV000242253.1|RCV000305066.1 MedGen|MedGen CN169374|CN169287 . . . . . . 0.05 0.395 D 0.015 0.158 B 0.008 0.127 B 0.070 0.022 N 1 0.090 P 2.05 0.567 M -0.03 0.631 T -0.84 0.229 N 0.006 0.017 -0.908 0.471 T 0.000 0.000 T . . . 0.112 0.104 3.741 0.941 0.237 0.048 0.103 N c -0.659 -0.811 0.078 0.158 0.554 0.246 0 1.66 0.230 0.551 0.229 0.142 0.226 0.000 0.063 0.001 0.043 6.41 0.208 . ENSG00000129295.4|ENSG00000129295.4 Heart_Left_Ventricle|Whole_Blood 0.4973 0.0926 0.6329 0.4859 0.3542 0.5758 0.5170 0.5088 0.5041 0.4047 0.1091 0.6148 0.4967 0.3631 0.5896 0.5181 0.5061 hom 8102.32 239 8 133975283 . G A 8102.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.361;DP=239;DS;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.8327;MQ=59.51;MQ0=0;MQRankSum=-0.755;QD=33.90;ReadPosRankSum=-0.447;VQSLOD=8.2194;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,237:239:99:8034,594,0 8 134108546 134108546 T C exonic TG nonsynonymous SNV TG:NM_003235:exon43:c.T7501C:p.W2501R 0.52 0.83 0.51 0.23 0.53 0.41 0.5024 0.7909 0.4084 0.2229 0.4673 0.5349 0.5121 0.4147 0.61 0.79 0.53 0.58 0.59 rs2069569 COSM3763048 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Thyroid_dyshormonogenesis RCV000244259.1|RCV000354501.1 MedGen|MedGen CN169374|CN169287 . . . . . . 0.496 0.078 T 0.0 0.026 B 0.0 0.013 B 0.651 0.105 N 1 0.090 P -1.01 0.011 N -0.2 0.661 T 0.08 0.060 N 0.061 0.549 -1.000 0.300 T 0.000 0.000 T . . . -1.296 0.022 0.005 0.544 0.050 0.003 0.014 N c -1.386 -1.307 1.000 0.467 0.487 0.133 0 2.0 0.254 0.108 0.151 -0.873 0.028 0.000 0.063 0.000 0.016 5.290 0.149 Alpha/Beta hydrolase fold|Carboxylesterase\x2c type B . . 0.4953 0.7952 0.4287 0.5999 0.2266 0.4666 0.5339 0.5082 0.4146 0.5814 0.7889 0.4677 0.6467 0.2426 0.4559 0.5372 0.4959 hom 7545.28 244 8 134108546 . T C 7545.28 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4068;MQ=58.64;MQ0=0;QD=30.92;VQSLOD=9.0448;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,244:244:99:7544,635,0 8 134144113 134144113 C T exonic TG synonymous SNV TG:NM_003235:exon46:c.C7920T:p.Y2640Y 0.41 0.59 0.49 0.17 0.48 0.26 0.4335 0.5882 0.3719 0.1687 0.3865 0.4904 0.4119 0.3080 0.52 0.58 0.49 0.4 0.53 rs2294024 COSM150551 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) Benign|Likely benign not_specified|Thyroid_dyshormonogenesis RCV000252575.1|RCV000342038.1 MedGen|MedGen CN169374|CN169287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4280 0.5894 0.3831 0.5543 0.1672 0.3836 0.4877 0.4588 0.3124 0.4773 0.5823 0.3971 0.5894 0.1710 0.3834 0.4752 0.4480 hom 3428.01 103 8 134144113 . C T 3428.01 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9318;MQ=60.00;MQ0=0;QD=33.28;VQSLOD=9.4552;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3428,277,0 8 134488007 134488007 G A exonic ST3GAL1 synonymous SNV ST3GAL1:NM_003033:exon4:c.C261T:p.T87T,ST3GAL1:NM_173344:exon5:c.C261T:p.T87T 0.44 0.59 0.43 0.17 0.5 0.47 0.4965 0.5856 0.4294 0.1662 0.5260 0.5398 0.5 0.4725 0.56 0.58 0.54 0.48 0.47 rs2230542 COSM1132840 1(prostate);2(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4903 0.5823 0.4348 0.6411 0.1713 0.5092 0.5361 0.4868 0.4580 0.5235 0.5717 0.4496 0.6667 0.1735 0.5026 0.5404 0.5082 hom 1877.28 67 8 134488007 . G A 1877.28 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;QD=28.02;VQSLOD=8.2260;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1910,144,0 8 135612745 135612745 A G exonic ZFAT synonymous SNV ZFAT:NM_001174157:exon6:c.T2223C:p.D741D,ZFAT:NM_001167583:exon7:c.T2373C:p.D791D,ZFAT:NM_001174158:exon7:c.T2373C:p.D791D,ZFAT:NM_020863:exon7:c.T2409C:p.D803D,ZFAT:NM_001029939:exon8:c.T2373C:p.D791D,ZFAT:NM_001289394:exon8:c.T2373C:p.D791D 0.49 0.42 0.62 0.55 0.43 0.5 0.4642 0.4165 0.6630 0.5284 0.5321 0.4113 0.4433 0.5070 0.4 0.39 0.4 0.37 0.39 rs894344 COSM5619093;COSM5619094 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4717 0.4200 0.6483 0.3462 0.5248 0.5289 0.4083 0.4547 0.5067 0.4461 0.4302 0.6348 0.3444 0.5347 0.5221 0.4174 0.4796 het 2899.66 250 8 135612745 . A G 2899.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.565;DP=250;DS;Dels=0.00;FS=0.983;HRun=0;HaplotypeScore=3.8260;MQ=59.18;MQ0=0;MQRankSum=-1.204;QD=11.60;ReadPosRankSum=0.674;VQSLOD=5.7300;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:2930,0,3474 8 135614705 135614705 A G exonic ZFAT synonymous SNV ZFAT:NM_001174157:exon5:c.T1071C:p.R357R,ZFAT:NM_001167583:exon6:c.T1221C:p.R407R,ZFAT:NM_001174158:exon6:c.T1221C:p.R407R,ZFAT:NM_020863:exon6:c.T1257C:p.R419R,ZFAT:NM_001029939:exon7:c.T1221C:p.R407R,ZFAT:NM_001289394:exon7:c.T1221C:p.R407R 0.8 0.78 0.82 0.9 0.72 0.77 0.7616 0.7759 0.8799 0.9147 0.8048 0.7195 0.7356 0.7444 0.75 0.79 0.72 0.75 0.68 rs3739423 COSM1455036;COSM1455037 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7653 0.7841 0.8661 0.5899 0.9159 0.7986 0.7247 0.7412 0.7453 0.7673 0.7871 0.8687 0.6060 0.9146 0.7977 0.7305 0.7643 hom 5179.78 173 8 135614705 . A G 5179.78 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6975;MQ=59.49;MQ0=0;QD=29.94;VQSLOD=4.8941;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,172:173:99:5178,439,0 8 139164192 139164192 G A exonic FAM135B synonymous SNV FAM135B:NM_015912:exon13:c.C2526T:p.P842P 0.37 0.18 0.42 0.53 0.38 0.43 0.3897 0.2145 0.5099 0.5304 0.5085 0.3628 0.4073 0.4019 0.31 0.22 0.35 0.33 0.38 rs3750306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3989 0.2114 0.4980 0.3657 0.5314 0.5081 0.3547 0.3738 0.4061 0.3600 0.2253 0.4544 0.3311 0.5161 0.5178 0.3780 0.3908 hom 3529.86 108 8 139164192 . G A 3529.86 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.6495;MQ=58.66;MQ0=0;QD=32.68;VQSLOD=5.1150;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3529,280,0 8 139165068 139165068 C T exonic FAM135B synonymous SNV FAM135B:NM_015912:exon13:c.G1650A:p.V550V 0.36 0.16 0.41 0.53 0.38 0.43 0.3882 0.1933 0.5082 0.5277 0.5086 0.3624 0.4065 0.4021 0.29 0.19 0.34 0.37 0.35 rs3763590 COSM4162685;COSM4162686 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3970 0.1900 0.4965 0.3657 0.5296 0.5080 0.3542 0.3734 0.4061 0.3524 0.2028 0.4462 0.3311 0.5130 0.5175 0.3766 0.3857 hom 2795.05 86 8 139165068 . C T 2795.05 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7306;MQ=58.92;MQ0=0;QD=32.50;VQSLOD=9.9348;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2828,244,0 8 139165272 139165272 T C exonic FAM135B synonymous SNV FAM135B:NM_015912:exon13:c.A1446G:p.P482P 0.72 0.69 0.75 0.77 0.69 0.73 0.7012 0.6955 0.7753 0.7811 0.7194 0.6746 0.7133 0.7107 0.68 0.71 0.67 0.41 0.79 rs7835712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7055 0.6948 0.7710 0.7205 0.7780 0.7179 0.6710 0.6921 0.7120 0.6916 0.6953 0.7614 0.7384 0.7713 0.7248 0.6707 0.6568 hom 5082.40 160 8 139165272 . T C 5082.40 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4649;MQ=56.93;MQ0=0;QD=31.77;VQSLOD=5.4565;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5082,394,0 8 139165273 139165273 G A exonic FAM135B nonsynonymous SNV FAM135B:NM_015912:exon13:c.C1445T:p.P482L 0.36 0.14 0.41 0.53 0.38 0.43 0.3870 0.1774 0.5073 0.5287 0.5085 0.3626 0.4056 0.4021 0.29 0.18 0.34 . 0.37 rs13280444 . . . . . . . . . . . . . 0.71 0.040 T 0.001 0.067 B 0.003 0.080 B 0.060 0.021 N 1 0.090 P 1.555 0.395 L 2.54 0.139 T 0.16 0.052 N 0.026 0.019 -0.911 0.468 T 0.000 0.000 T . . . -0.607 0.050 0.120 0.279 0.014 0.090 0.146 N c -1.240 -1.254 0.000 0.012 0.487 0.133 0 0.762 0.175 0.538 0.227 -0.860 0.029 0.000 0.063 0.000 0.016 3.465 0.071 . . . 0.3960 0.1749 0.4957 0.3658 0.5294 0.5076 0.3544 0.3729 0.4061 0.3473 0.1881 0.4462 0.3333 0.5081 0.5175 0.3757 0.3809 hom 5132.76 162 8 139165273 . G A 5132.76 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4649;MQ=56.97;MQ0=0;QD=31.68;VQSLOD=5.3596;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5132,400,0 8 139165289 139165289 T C exonic FAM135B nonsynonymous SNV FAM135B:NM_015912:exon13:c.A1429G:p.I477V 0.72 0.68 0.74 0.77 0.69 0.73 0.6997 0.6875 0.7752 0.7811 0.7192 0.6743 0.7089 0.7062 0.68 0.7 0.67 0.75 0.79 rs7835830 . . . . . . . . . . . . . 0.607 0.055 T 0.003 0.102 B 0.004 0.093 B 0.001 0.008 N 1 0.090 P 0.805 0.203 L 2.58 0.134 T 0.27 0.043 N 0.019 0.005 -0.983 0.343 T 0.000 0.000 T . . . -2.557 0.003 0.001 0.171 0.005 0.054 0.111 N c -1.151 -1.199 0.000 0.029 0.487 0.133 0 -2.29 0.064 -1.378 0.026 0.964 0.580 0.000 0.063 0.031 0.148 4.473 0.111 . . . 0.7042 0.6878 0.7705 0.72 0.7780 0.7180 0.6707 0.6906 0.7077 0.6905 0.6895 0.7620 0.7384 0.7711 0.7251 0.6715 0.6589 hom 4633.82 149 8 139165289 . T C 4633.82 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=57.48;MQ0=0;QD=31.10;VQSLOD=6.7848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4633,358,0 8 139647262 139647262 A G exonic COL22A1 synonymous SNV COL22A1:NM_152888:exon49:c.T3600C:p.P1200P 0.71 0.44 0.74 0.9 0.85 0.71 0.7918 0.4876 0.7091 0.8953 0.8570 0.8495 0.8293 0.7250 0.73 0.51 0.85 0.64 0.8 rs10091563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7983 0.4817 0.7221 0.9013 0.8993 0.8620 0.8453 0.8209 0.7281 0.7477 0.4943 0.7446 0.9267 0.9063 0.8530 0.8473 0.7892 hom 1064.43 40 8 139647262 . A G 1064.43 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=26.61;VQSLOD=8.1122;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:84.26:1097,84,0 8 139697478 139697478 T C exonic COL22A1 synonymous SNV COL22A1:NM_152888:exon38:c.A2940G:p.P980P 0.58 0.38 0.64 0.79 0.6 0.57 0.5888 0.4169 0.6127 0.7832 0.4970 0.5961 0.5828 0.5858 0.54 0.43 0.6 0.5 0.63 rs9644500 COSM3982414 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5932 0.4169 0.6188 0.6927 0.7806 0.4862 0.5948 0.6085 0.5856 0.5331 0.4274 0.6523 0.7649 0.7911 0.4748 0.5683 0.5451 het 1165.90 132 8 139697478 . T C 1165.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.088;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.22;MQ0=0;MQRankSum=1.274;QD=8.83;ReadPosRankSum=-0.779;VQSLOD=5.0445;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,55:132:99:1196,0,1947 8 139701209 139701209 G T exonic COL22A1 nonsynonymous SNV COL22A1:NM_152888:exon37:c.C2813A:p.A938D 0.29 0.25 0.3 0.18 0.34 0.4 0.3287 0.2745 0.3503 0.1989 0.4177 0.3268 0.3436 0.3871 0.31 0.29 0.33 0.27 0.26 rs4909444 COSM4984910 10(soft_tissue);1(pancreas) . . . . . . . . . . . 0.627 0.052 T 0.062 0.218 B 0.017 0.170 B 0.967 0.082 U 1 0.090 P 0.15 0.089 N -3.23 0.934 D -1.48 0.362 N 0.028 0.009 -1.036 0.187 T 0.000 0.000 T . . . 1.028 0.193 10.82 0.759 0.109 0.130 0.174 N c -0.847 -0.796 0.000 0.061 0.615 0.372 0 2.74 0.312 1.387 0.338 0.068 0.175 0.004 0.165 0.001 0.043 6.258 0.200 . . . 0.3311 0.2694 0.3429 0.2361 0.1997 0.4286 0.3306 0.3197 0.3863 0.3229 0.2725 0.3079 0.1954 0.1911 0.4350 0.3413 0.3571 het 2352.23 167 8 139701209 . G T 2352.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.087;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0553;MQ=59.15;MQ0=0;MQRankSum=2.134;QD=14.09;ReadPosRankSum=0.570;VQSLOD=3.5572;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,95:167:99:2382,0,1779 8 139838912 139838912 T C exonic COL22A1 nonsynonymous SNV COL22A1:NM_152888:exon6:c.A958G:p.S320G 0.83 0.87 0.82 0.76 0.81 0.88 0.8146 0.8650 0.8271 0.7354 0.7952 0.8034 0.8051 0.8689 0.83 0.87 0.81 0.85 0.79 rs2292927 COSM5426217 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.477 N 0.966 0.259 P -2.865 0.000 N 2.33 0.165 T 2.49 0.002 N 0.094 0.094 -0.991 0.323 T 0.000 0.000 T . . . 2.752 0.392 21.1 0.448 0.034 0.190 0.203 N c -0.638 -0.304 1.000 0.517 0.693 0.558 0 5.21 0.719 6.055 0.705 0.014 0.141 1.000 0.715 0.972 0.466 13.184 0.589 Concanavalin A-like lectin/glucanase domain|Laminin G domain . . 0.8141 0.8634 0.8331 0.7822 0.7365 0.7911 0.8051 0.8184 0.8711 0.8104 0.8639 0.8194 0.7715 0.7313 0.7971 0.7936 0.7751 het 1753.25 167 8 139838912 . T C 1753.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.975;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2359;MQ=58.67;MQ0=0;MQRankSum=-1.134;QD=10.50;ReadPosRankSum=0.799;VQSLOD=4.8316;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,70:167:99:1783,0,2480 8 140630990 140630990 A G exonic KCNK9 synonymous SNV KCNK9:NM_001282534:exon2:c.T636C:p.G212G 0.72 0.88 0.66 0.7 0.64 0.66 0.6586 0.8547 0.6918 0.6916 0.6423 0.6296 0.6269 0.6202 0.7 0.84 0.63 0.84 0.54 rs2615374 COSM5946623;COSM5946622 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6554 0.8571 0.6951 0.5643 0.6884 0.6439 0.6314 0.6505 0.6189 0.6982 0.8484 0.6894 0.5497 0.6876 0.6446 0.6295 0.6697 hom 3360.71 110 8 140630990 . A G 3360.71 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5816;MQ=59.58;MQ0=0;QD=30.55;VQSLOD=8.5241;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3360,283,0 8 141551407 141551407 G A exonic AGO2 synonymous SNV AGO2:NM_001164623:exon15:c.C1890T:p.R630R,AGO2:NM_012154:exon15:c.C1890T:p.R630R 0.23 0.057 0.28 0.36 0.27 0.24 0.2677 0.0899 0.2394 0.3439 0.3460 0.2850 0.2782 0.2536 0.21 0.094 0.27 0.17 0.28 rs2293939 COSM3763054 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2555 0.0796 0.2178 0.2570 0.3306 0.3184 0.2709 0.2670 0.2400 0.2372 0.0903 0.2482 0.2815 0.3078 0.3075 0.2929 0.3033 het 388.84 45 8 141551407 . G A 388.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.846;DP=45;Dels=0.00;FS=2.670;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=-0.035;QD=8.64;ReadPosRankSum=-1.124;VQSLOD=5.9409;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,18:45:99:419,0,651 8 141559358 141559358 G A exonic AGO2 synonymous SNV AGO2:NM_001164623:exon12:c.C1443T:p.A481A,AGO2:NM_012154:exon12:c.C1443T:p.A481A 0.47 0.45 0.49 0.59 0.34 0.49 0.4231 0.4399 0.5376 0.6107 0.3539 0.3709 0.4265 0.4711 0.4 0.43 0.38 0.41 0.42 rs2292781 COSM5482488 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4260 0.4365 0.5409 0.4002 0.6114 0.3496 0.3701 0.4133 0.4590 0.4031 0.4296 0.4808 0.3841 0.6377 0.3607 0.3703 0.3735 het 1039.23 79 8 141559358 . G A 1039.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.959;DP=79;Dels=0.00;FS=0.891;HRun=0;HaplotypeScore=2.8901;MQ=59.05;MQ0=0;MQRankSum=-1.315;QD=13.15;ReadPosRankSum=-1.315;VQSLOD=5.6504;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,43:79:99:1069,0,843 8 141566311 141566311 C T exonic AGO2 synonymous SNV AGO2:NM_001164623:exon9:c.G1101A:p.A367A,AGO2:NM_012154:exon9:c.G1101A:p.A367A 0.45 0.29 0.58 0.64 0.33 0.5 0.4103 0.3094 0.6237 0.6584 0.3131 0.3561 0.3987 0.4531 0.35 0.3 0.37 0.41 0.4 rs2271738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4209 0.3076 0.6195 0.3749 0.6558 0.3144 0.3586 0.4020 0.4501 0.3589 0.3050 0.5490 0.3642 0.6735 0.3322 0.3521 0.3555 het 1173.97 91 8 141566311 . C T 1173.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.934;DP=91;Dels=0.00;FS=8.852;HRun=1;HaplotypeScore=5.8256;MQ=59.49;MQ0=0;MQRankSum=0.147;QD=12.90;ReadPosRankSum=0.115;VQSLOD=4.7289;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,44:91:99:1204,0,1307 8 141568622 141568622 G A exonic AGO2 synonymous SNV AGO2:NM_001164623:exon7:c.C840T:p.R280R,AGO2:NM_012154:exon7:c.C840T:p.R280R 0.66 0.87 0.61 0.6 0.49 0.62 0.5789 0.8318 0.6700 0.6250 0.4882 0.5179 0.5507 0.6164 0.63 0.82 0.53 0.67 0.52 rs2292778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5798 0.8363 0.6744 0.5450 0.6270 0.4913 0.5215 0.5459 0.6159 0.6062 0.8149 0.6229 0.5265 0.6448 0.4977 0.5117 0.5316 het 1702.32 141 8 141568622 . G A 1702.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.316;DP=141;Dels=0.00;FS=3.294;HRun=0;HaplotypeScore=6.4816;MQ=59.39;MQ0=0;MQRankSum=-0.213;QD=12.07;ReadPosRankSum=0.028;VQSLOD=4.9202;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,70:141:99:1732,0,1722 8 142170884 142170884 C T exonic DENND3 synonymous SNV DENND3:NM_014957:exon9:c.C1110T:p.F370F 0.29 0.13 0.34 0.34 0.27 0.45 0.3372 0.1732 0.4249 0.3339 0.2905 0.3192 0.3322 0.4618 0.25 0.17 0.29 0.17 0.35 rs2289001 COSM454105 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3364 0.1660 0.4123 0.2927 0.3303 0.2850 0.3175 0.3430 0.4548 0.2679 0.1722 0.3959 0.2947 0.3015 0.2912 0.3034 0.3208 het 1299.40 107 8 142170884 . C T 1299.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.477;DP=107;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4886;MQ=59.78;MQ0=0;MQRankSum=2.022;QD=12.14;ReadPosRankSum=1.025;VQSLOD=3.9600;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1329,0,1373 8 142222374 142222374 A G exonic SLC45A4 synonymous SNV SLC45A4:NM_001080431:exon7:c.T2070C:p.G690G,SLC45A4:NM_001286646:exon7:c.T2223C:p.G741G,SLC45A4:NM_001286648:exon7:c.T2070C:p.G690G 0.69 0.75 0.58 0.8 0.59 0.65 0.6283 0.7615 0.6755 0.7999 0.6157 0.5785 0.6171 0.6245 0.63 0.76 0.57 0.66 0.51 rs7017848 COSM3763057;COSM4783665 2(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6229 0.7580 0.6664 0.5169 0.8017 0.6232 0.5786 0.6031 0.6012 0.6461 0.7560 0.6439 0.52 0.8136 0.6140 0.5751 0.6306 het 525.76 42 8 142222374 . A G 525.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.984;DP=42;Dels=0.00;FS=3.776;HRun=0;HaplotypeScore=0.9987;MQ=59.56;MQ0=0;MQRankSum=2.607;QD=12.52;ReadPosRankSum=-2.657;VQSLOD=3.5000;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,22:42:99:556,0,559 8 142222445 142222445 T C exonic SLC45A4 nonsynonymous SNV SLC45A4:NM_001080431:exon7:c.A1999G:p.N667D,SLC45A4:NM_001286646:exon7:c.A2152G:p.N718D,SLC45A4:NM_001286648:exon7:c.A1999G:p.N667D 0.71 0.84 0.58 0.81 0.59 0.65 0.6295 0.8248 0.6782 0.8059 0.6057 0.5764 0.6091 0.6047 0.65 0.82 0.57 0.78 0.53 rs3739238 COSM4998060;COSM4998059 1(pancreas) . . . . . . . . . . . 0.902 0.024 T 0.0 0.026 B 0.0 0.013 B 0.501 0.119 N 1 0.090 P -1.15 0.009 N 2.58 0.137 T 1.63 0.007 N 0.009 0.001 -1.002 0.293 T 0.000 0.000 T . . . -0.272 0.070 0.768 0.333 0.020 0.019 0.058 N c -1.256 -1.058 1.000 0.747 0.696 0.567 0 4.39 0.520 1.231 0.320 0.016 0.142 0.187 0.239 0.167 0.209 11.748 0.509 Major facilitator superfamily domain ENSG00000022567.5 Breast_Mammary_Tissue 0.6285 0.8236 0.6708 0.5250 0.8059 0.6149 0.5813 0.6085 0.6035 0.6629 0.8211 0.6495 0.5166 0.8124 0.6049 0.5741 0.6286 het 927.96 80 8 142222445 . T C 927.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.722;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.77;MQ0=0;MQRankSum=-0.949;QD=11.60;ReadPosRankSum=-0.795;VQSLOD=6.3678;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,38:80:99:958,0,1213 8 142228149 142228149 G A exonic SLC45A4 synonymous SNV SLC45A4:NM_001080431:exon4:c.C1437T:p.T479T,SLC45A4:NM_001286646:exon4:c.C1590T:p.T530T,SLC45A4:NM_001286648:exon4:c.C1437T:p.T479T 0.14 0.08 0.1 0.24 0.12 0.17 0.1282 0.0982 0.0992 0.2569 0.1158 0.1228 0.1626 0.1232 0.1 0.091 0.11 0.11 0.057 rs12679446 COSM5426615;COSM5426616 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1216 0.0937 0.0968 0.1565 0.2467 0.1004 0.1159 0.1282 0.1156 0.1102 0.0968 0.0967 0.1589 0.2488 0.0956 0.1057 0.1181 het 570.07 49 8 142228149 . G A 570.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.528;DP=49;Dels=0.00;FS=3.206;HRun=0;HaplotypeScore=0.5784;MQ=56.92;MQ0=0;MQRankSum=0.171;QD=11.63;ReadPosRankSum=-1.055;VQSLOD=4.0361;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,22:49:99:600,0,637 8 142228686 142228686 G A exonic SLC45A4 synonymous SNV SLC45A4:NM_001080431:exon4:c.C900T:p.L300L,SLC45A4:NM_001286646:exon4:c.C1053T:p.L351L,SLC45A4:NM_001286648:exon4:c.C900T:p.L300L 0.14 0.079 0.098 0.24 0.12 0.17 0.1215 0.0924 0.0941 0.2501 0.0989 0.1167 0.1471 0.1180 0.1 0.089 0.11 0.098 0.082 rs3739237 COSM4783605;COSM1455204 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1214 0.0941 0.0956 0.1539 0.2474 0.1019 0.1157 0.1274 0.1159 0.1099 0.0969 0.0943 0.16 0.2456 0.0959 0.1055 0.1191 het 1415.59 106 8 142228686 . G A 1415.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.118;DP=106;Dels=0.00;FS=2.705;HRun=1;HaplotypeScore=6.0049;MQ=58.24;MQ0=0;MQRankSum=-0.182;QD=13.35;ReadPosRankSum=-1.522;VQSLOD=4.2398;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,58:106:99:1446,0,1131 8 142228809 142228809 T C exonic SLC45A4 synonymous SNV SLC45A4:NM_001080431:exon4:c.A777G:p.A259A,SLC45A4:NM_001286646:exon4:c.A930G:p.A310A,SLC45A4:NM_001286648:exon4:c.A777G:p.A259A 0.71 0.82 0.59 0.82 0.6 0.65 0.6317 0.8168 0.6812 0.8199 0.6087 0.5795 0.6086 0.6030 0.65 0.81 0.57 0.7 0.54 rs753779 COSM3763058;COSM4783685 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6321 0.8150 0.6744 0.5314 0.8206 0.6237 0.5851 0.6107 0.6018 0.6640 0.8096 0.6531 0.5298 0.8273 0.6139 0.5786 0.6352 het 2451.33 213 8 142228809 . T C 2451.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.342;DP=213;Dels=0.00;FS=8.381;HRun=0;HaplotypeScore=5.0725;MQ=59.59;MQ0=0;MQRankSum=0.404;QD=11.51;ReadPosRankSum=-1.393;VQSLOD=4.4481;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:120,92:213:99:2481,0,3191 8 142229834 142229834 G A exonic SLC45A4 synonymous SNV SLC45A4:NM_001080431:exon3:c.C372T:p.T124T,SLC45A4:NM_001286646:exon3:c.C525T:p.T175T,SLC45A4:NM_001286648:exon3:c.C372T:p.T124T 0.15 0.1 0.1 0.24 0.12 0.17 0.1431 0.1255 0.1125 0.2805 0.1370 0.1359 0.1791 0.1319 0.11 0.11 0.11 0.12 0.057 rs2304280 COSM3763060;COSM4785100 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1237 0.1121 0.0971 0.1564 0.2473 0.1040 0.1168 0.1309 0.1164 0.1154 0.1148 0.0990 0.1589 0.2478 0.0959 0.1058 0.1178 het 444.18 34 8 142229834 . G A 444.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.169;DP=34;Dels=0.00;FS=1.500;HRun=0;HaplotypeScore=1.8934;MQ=60.00;MQ0=0;MQRankSum=0.482;QD=13.06;ReadPosRankSum=1.206;VQSLOD=5.6283;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,17:34:99:474,0,459 8 142229891 142229891 A G exonic SLC45A4 synonymous SNV SLC45A4:NM_001080431:exon3:c.T315C:p.I105I,SLC45A4:NM_001286646:exon3:c.T468C:p.I156I,SLC45A4:NM_001286648:exon3:c.T315C:p.I105I 0.7 0.8 0.58 0.82 0.6 0.64 0.6504 0.7939 0.6977 0.8156 0.6427 0.6097 0.6421 0.6143 0.64 0.78 0.57 0.76 0.47 rs2304279 COSM4785105;COSM3763061 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6245 0.7814 0.6683 0.53 0.8106 0.6231 0.5801 0.6061 0.5940 0.6540 0.7782 0.6471 0.5331 0.8230 0.6131 0.5771 0.6332 het 119.15 20 8 142229891 . A G 119.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.113;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.031;QD=5.96;ReadPosRankSum=-1.691;VQSLOD=9.9732;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,6:20:99:149,0,386 8 142367559 142367559 G A exonic GPR20 synonymous SNV GPR20:NM_005293:exon2:c.C465T:p.P155P 0.6 0.45 0.73 0.51 0.72 0.68 0.7083 0.5568 0.8125 0.5991 0.7753 0.7220 0.7116 0.6927 0.63 0.51 0.69 0.53 0.2 rs11785629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6892 0.4999 0.7885 0.5844 0.5506 0.7442 0.7068 0.6903 0.6794 0.6441 0.4969 0.7733 0.5993 0.5323 0.7331 0.7106 0.7037 hom 878.05 27 8 142367559 . G A 878.05 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.52;VQSLOD=13.2616;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:75.21:911,75,0 8 142446923 142446923 C T exonic MROH5 unknown UNKNOWN 0.32 0.21 0.28 0.27 0.43 0.43 0.3926 0.2422 0.2397 0.2780 0.4546 0.4388 0.3773 0.4356 0.36 0.22 0.44 0.26 . rs11782383 COSM5982920 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . 1.75 0.456 L . . . . . . 0.26 0.317 . . . . . . . . . 2.736 0.390 21.0 0.786 0.119 0.136 0.177 N n 0.778 1.635 1.000 0.408 0.581 0.326 0 2.75 0.313 -0.128 0.104 -0.516 0.050 0.000 0.063 0.014 0.122 4.937 0.132 Armadillo-type fold . . 0.3833 0.2261 0.2490 0.3445 0.2763 0.4515 0.4402 0.4036 0.4231 0.3718 0.2424 0.3254 0.3874 0.2784 0.4532 0.4389 0.3990 hom 792.40 25 8 142446923 . C T 792.40 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.58;MQ0=0;QD=31.70;VQSLOD=8.5007;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:66.21:825,66,0 8 142458053 142458053 A G exonic MROH5 unknown UNKNOWN 0.35 0.24 0.3 0.3 0.47 0.44 0.4500 0.2923 0.2890 0.3188 0.5691 0.4994 0.4527 0.4659 0.41 0.25 0.48 0.29 . rs6578185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.375 0.130 6.397 0.562 0.054 0.001 0.005 N n 0.077 -0.159 0.014 0.126 0.554 0.283 0 0.773 0.176 0.249 0.179 -0.304 0.080 0.000 0.063 0.000 0.016 0.797 0.010 . . . 0.4322 0.2608 0.2722 0.4206 0.3105 0.5453 0.4954 0.4535 0.4529 0.4287 0.2786 0.3401 0.4433 0.2869 0.5415 0.5072 0.4683 hom 697.01 25 8 142458053 . A G 697.01 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9832;MQ=58.24;MQ0=0;QD=27.88;VQSLOD=7.8430;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:54.18:730,54,0 8 142490079 142490079 G A exonic MROH5 unknown UNKNOWN 0.94 0.78 0.98 0.99 1. 0.99 0.9800 0.7930 0.9911 0.9928 0.9997 0.9982 0.9889 0.9948 0.94 0.81 1. 0.89 . rs2613641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9827 0.7858 0.9887 0.9961 0.9930 0.9999 0.9977 0.9892 0.9953 0.9408 0.7992 0.9905 0.9967 0.9908 1 0.9969 0.9867 hom 3512.31 115 8 142490079 . G A 3512.31 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=30.54;VQSLOD=8.8174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3512,280,0 8 142490120 142490120 G T exonic MROH5 unknown UNKNOWN 0.78 0.53 0.91 0.78 0.92 0.9 0.8718 0.5675 0.9512 0.7957 0.8722 0.9078 0.8904 0.8899 0.81 0.6 0.9 0.71 . rs2748416 COSM5426320;COSM5426319 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . 2.93 0.848 M . . . . . . 0.241 0.295 . . . . . . . . . 4.342 0.581 24.0 0.996 0.710 0.691 0.338 D n 1.338 0.259 0.000 0.055 0.554 0.283 0 3.46 0.386 2.100 0.412 0.955 0.563 1.000 0.715 0.985 0.512 10.363 0.430 . . . 0.8775 0.5610 0.9437 0.9047 0.7877 0.8752 0.9080 0.8931 0.8922 0.7985 0.5735 0.9332 0.9338 0.7825 0.8749 0.8975 0.8773 hom 2549.51 79 8 142490120 . G T 2549.51 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=32.27;VQSLOD=9.5184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,78:79:99:2583,205,0 8 142505578 142505578 C A exonic MROH5 unknown UNKNOWN 0.67 0.64 0.8 0.47 0.71 0.76 0.6930 0.6241 0.8467 0.4872 0.6836 0.6891 0.7210 0.7517 0.67 0.63 0.69 0.7 . rs2748404 COSN168448 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . -0.975 0.012 N . . . 10.69 0.000 N 0.064 0.495 -0.957 0.397 T 0.000 0.000 T . . . 0.993 0.189 10.62 0.856 0.155 0.011 0.040 N c -0.687 -0.572 0.001 0.083 0.497 0.185 0 4.56 0.555 1.799 0.382 0.106 0.201 1.000 0.715 0.426 0.258 8.560 0.325 . ENSG00000226807.2 Testis 0.6946 0.6173 0.8286 0.6515 0.4870 0.6845 0.6882 0.7080 0.7508 0.6650 0.6266 0.8079 0.6788 0.5230 0.6717 0.6911 0.6884 hom 3817.32 118 8 142505578 . C A 3817.32 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=32.35;VQSLOD=9.6641;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3817,289,0 8 142506436 142506436 C T exonic MROH5 unknown UNKNOWN 0.0082 0.0015 0.013 . 0.027 0.0031 0.0262 0.0049 0.0097 0 0.0660 0.0353 0.0270 0.0078 0.023 0.0067 0.031 0.043 . rs78443189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0249 0.0048 0.0090 0.0098 0 0.0649 0.0347 0.0272 0.0062 0.0280 0.0070 0.0179 0.0066 0 0.0647 0.0357 0.0285 het 797 65 8 142506436 . C T 797 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.417;DP=65;Dels=0.00;FS=2.332;HRun=0;HaplotypeScore=1.8928;MQ=59.65;MQ0=0;MQRankSum=-0.497;QD=12.26;ReadPosRankSum=1.292;VQSLOD=5.6786;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,28:65:99:827,0,1043 8 142506461 142506461 A G exonic MROH5 unknown UNKNOWN 0.62 0.48 0.77 0.47 0.7 0.75 0.6710 0.4881 0.8371 0.4871 0.6692 0.6781 0.7020 0.7301 0.62 0.5 0.68 0.63 . rs2613637 COSN168449 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . -0.695 0.019 N . . . 5.88 0.000 N 0.425 0.481 -0.950 0.411 T 0.000 0.000 T . . . 0.363 0.129 6.281 0.133 0.003 0.001 0.005 N c -0.924 -0.934 0.000 0.062 0.497 0.185 0 3.49 0.389 1.463 0.347 -0.011 0.132 0.521 0.269 0.007 0.100 6.700 0.223 . ENSG00000226807.2 Testis 0.6755 0.4802 0.8187 0.6192 0.4899 0.6720 0.6786 0.6954 0.7269 0.6117 0.4869 0.7967 0.6556 0.5198 0.6597 0.6689 0.6582 hom 2629.22 84 8 142506461 . A G 2629.22 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.73;MQ0=0;QD=31.30;VQSLOD=9.3594;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2662,202,0 8 142517222 142517222 A G exonic MROH5 unknown UNKNOWN 0.37 0.26 0.31 0.39 0.48 0.42 0.4174 0.2669 0.2580 0.3883 0.4925 0.4689 0.4294 0.3963 0.39 0.26 0.46 0.35 . rs2748421 COSM4162707;COSM4162708 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . -0.695 0.019 N . . . . . . 0.018 0.143 . . . . . . . . . -1.556 0.016 0.002 0.665 0.078 0.000 0.003 N n 0.525 2.212 0.329 0.195 0.497 0.185 0 1.37 0.211 0.258 0.180 0.125 0.212 0.000 0.063 0.005 0.090 3.497 0.072 . . . 0.4160 0.2643 0.2698 0.3390 0.3974 0.5059 0.4777 0.4288 0.3956 0.4064 0.2645 0.3174 0.3818 0.3818 0.4905 0.4759 0.4378 hom 2464.43 84 8 142517222 . A G 2464.43 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.34;VQSLOD=14.0232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:84:99:2497,190,0 8 142517227 142517227 C T exonic MROH5 unknown UNKNOWN 0.37 0.26 0.31 0.39 0.48 0.42 0.4174 0.2667 0.2581 0.3881 0.4924 0.4688 0.4303 0.3962 0.39 0.26 0.46 0.35 . rs2613648 COSM4162710;COSM4162709 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . 0.205 0.094 N . . . . . . 0.061 0.318 . . . . . . . . . -0.995 0.032 0.016 0.524 0.047 0.006 0.028 N n 0.491 2.200 0.541 0.212 0.497 0.185 0 -2.7 0.056 -0.595 0.058 0.054 0.162 0.000 0.063 0.002 0.062 4.485 0.111 . . . 0.4159 0.2640 0.2697 0.3392 0.3973 0.5058 0.4776 0.4284 0.3955 0.4060 0.2644 0.3174 0.3792 0.3810 0.4903 0.4752 0.4394 hom 2524.75 83 8 142517227 . C T 2524.75 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.42;VQSLOD=14.1930;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2558,196,0 8 143413136 143413136 C T exonic TSNARE1 nonsynonymous SNV TSNARE1:NM_001291931:exon3:c.G145A:p.V49I,TSNARE1:NM_145003:exon5:c.G802A:p.V268I 0.43 0.54 0.44 0.47 0.32 0.34 0.4115 0.5402 0.4637 0.5301 0.4158 0.3732 0.3981 0.3790 0.38 0.51 0.32 0.45 0.28 rs10435683 COSM150556 1(stomach);1(urinary_tract);1(prostate);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.893 0.025 T 0.046 0.206 B 0.013 0.154 B 0.118 0.191 N 1.000 0.192 P 0.6 0.156 N 1.75 0.262 T 0.03 0.076 N 0.07 0.251 -0.921 0.455 T 0.000 0.000 T . . . 1.297 0.220 12.26 0.754 0.107 0.065 0.123 N c -0.894 -0.833 0.379 0.199 0.696 0.567 0 2.41 0.285 0.665 0.246 0.672 0.294 0.440 0.263 0.684 0.306 6.554 0.215 Syntaxin\x2c N-terminal domain|t-SNARE;t-SNARE ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Prostate|Spleen|Thyroid 0.3476 0.5019 0.3901 0.3207 0.4594 0.3202 0.3081 0.3475 0.3355 0.3915 0.5129 0.4033 0.3411 0.4653 0.3163 0.3331 0.3571 het 576.95 36 8 143413136 . C T 576.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.428;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;MQRankSum=0.626;QD=16.03;ReadPosRankSum=-1.746;VQSLOD=6.5191;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,23:36:99:607,0,282 8 143425720 143425720 T C exonic TSNARE1 nonsynonymous SNV TSNARE1:NM_145003:exon4:c.A352G:p.T118A 0.59 0.86 0.48 0.63 0.34 0.5 0.4476 0.7789 0.4672 0.6365 0.3374 0.3661 0.4151 0.4775 0.48 0.75 0.34 0.58 0.09 rs10100935 COSM3763065 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.062 0.221 N 1 0.090 P -0.625 0.021 N 2.74 0.288 T 0.51 0.029 N 0.033 0.230 -0.965 0.381 T 0.000 0.000 T . . . -2.054 0.007 0.001 0.142 0.003 0.001 0.005 N c -1.463 -1.422 0.092 0.162 0.701 0.575 0 2.2 0.268 -0.336 0.078 -0.436 0.058 0.001 0.137 0.007 0.100 5.721 0.171 . ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000181790.6|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Lung|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood 0.4046 0.7803 0.4241 0.3296 0.6241 0.2868 0.3306 0.3880 0.4433 0.4682 0.7601 0.4499 0.3675 0.6139 0.2924 0.3329 0.3768 het 144.67 12 8 143425720 . T C 144.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.678;DP=12;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=0.0000;MQ=56.04;MQ0=0;MQRankSum=0.000;QD=12.06;ReadPosRankSum=-0.896;VQSLOD=3.3383;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,8:12:90.93:175,0,91 8 143427178 143427178 C G exonic TSNARE1 nonsynonymous SNV TSNARE1:NM_145003:exon3:c.G164C:p.R55P 0.36 0.65 0.29 0.35 0.2 0.21 0.2442 0.5925 0.2400 0.3373 0.1645 0.1959 0.2124 0.2069 0.33 0.57 0.21 0.39 0.22 rs33970858 COSM150557 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.611 0.109 N 1 0.090 P -0.895 0.014 N 2.68 0.253 T 1.2 0.011 N 0.119 0.489 -0.941 0.425 T 0.000 0.000 T . . . 0.251 0.118 5.207 0.208 0.008 0.000 0.002 N c -1.588 -1.529 0.989 0.318 0.651 0.465 0 -0.305 0.121 0.156 0.161 -0.503 0.051 0.000 0.063 0.362 0.248 3.891 0.086 . ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial|Spleen|Thyroid 0.2366 0.5998 0.2375 0.1899 0.3392 0.1554 0.1989 0.2344 0.2083 0.3058 0.5754 0.2590 0.1821 0.3317 0.1554 0.1920 0.2224 het 1404.48 107 8 143427178 . C G 1404.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.474;DP=107;Dels=0.00;FS=1.918;HRun=2;HaplotypeScore=1.7860;MQ=59.04;MQ0=0;MQRankSum=-2.135;QD=13.13;ReadPosRankSum=0.302;VQSLOD=5.0274;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,52:107:99:1434,0,1649 8 143436034 143436034 A G exonic TSNARE1 nonsynonymous SNV TSNARE1:NM_001291931:exon2:c.T52C:p.F18L,TSNARE1:NM_145003:exon2:c.T52C:p.F18L 0.36 0.63 0.29 0.35 0.2 0.21 0.2426 0.5718 0.2401 0.3364 0.1632 0.1970 0.2133 0.2067 0.32 0.55 0.21 0.42 0.22 rs7814359 COSM3763066 1(large_intestine) . . . . . . . . . . . 0.078 0.351 T 0.3 0.308 B 0.067 0.261 B 0.004 0.338 U 1 0.090 P 1.04 0.263 L 1.33 0.376 T -1.06 0.839 N 0.217 0.266 -0.931 0.441 T 0.000 0.000 T . . . 2.549 0.368 19.78 0.935 0.227 0.145 0.182 N c -0.858 -0.879 0.999 0.392 0.696 0.567 0 2.26 0.273 1.093 0.303 0.154 0.240 0.016 0.191 0.038 0.155 7.158 0.247 . ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10|ENSG00000171045.10 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial|Spleen|Thyroid 0.2342 0.5752 0.2362 0.1904 0.3359 0.1546 0.1986 0.2334 0.2081 0.3001 0.5580 0.2530 0.1821 0.3292 0.1552 0.1916 0.2200 het 320.02 42 8 143436034 . A G 320.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.117;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.660;QD=7.62;ReadPosRankSum=-0.531;VQSLOD=10.7513;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,16:42:99:350,0,686 8 143603418 143603418 G C exonic ADGRB1 synonymous SNV ADGRB1:NM_001702:exon20:c.G3117C:p.A1039A 0.9 0.73 0.96 0.96 0.98 0.95 0.9562 0.7746 0.9826 0.9503 0.9881 0.9755 0.9785 0.9599 0.91 0.78 0.98 0.85 . rs7460600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9607 0.7688 0.9786 0.9826 0.9486 0.9873 0.9754 0.9761 0.9610 0.9250 0.7901 0.9749 0.9868 0.9488 0.9871 0.9792 0.9663 hom 1646.37 52 8 143603418 . G C 1646.37 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9150;MQ=58.75;MQ0=0;QD=31.66;VQSLOD=8.3024;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1679,144,0 8 143623459 143623459 G T exonic ADGRB1 synonymous SNV ADGRB1:NM_001702:exon27:c.G3864T:p.L1288L 0.15 0.042 0.084 0.25 0.13 0.25 0.1472 0.0538 0.0930 0.2358 0.1053 0.1399 0.1440 0.2382 0.11 0.055 0.14 0.11 . rs34364916 COSM3763067 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1446 0.0518 0.0921 0.1121 0.2426 0.1082 0.1424 0.1393 0.2385 0.1162 0.0573 0.0873 0.1126 0.2512 0.1061 0.1397 0.1194 hom 1667.65 52 8 143623459 . G T 1667.65 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=32.07;VQSLOD=9.3397;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1701,135,0 8 143746050 143746050 C T exonic JRK nonsynonymous SNV JRK:NM_001077527:exon3:c.G1426A:p.G476R,JRK:NM_001279352:exon3:c.G1426A:p.G476R,JRK:NM_003724:exon3:c.G1426A:p.G476R 0.44 0.47 0.29 0.48 0.35 0.56 0.3722 0.4554 0.2551 0.4817 0.2908 0.3327 0.4321 0.5298 0.36 0.43 0.33 0.35 . rs2976399 COSN23013007;COSN23012230;COSN23013009;COSN23013008 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3567 0.4384 0.2520 0.4368 0.4804 0.2762 0.3196 0.3588 0.5241 0.3491 0.4373 0.2787 0.4733 0.4684 0.2784 0.3046 0.3247 hom 882.02 27 8 143746050 . C T 882.02 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.67;VQSLOD=14.1781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:72.20:915,72,0 8 143746069 143746069 T C exonic JRK synonymous SNV JRK:NM_001077527:exon3:c.A1407G:p.P469P,JRK:NM_001279352:exon3:c.A1407G:p.P469P,JRK:NM_003724:exon3:c.A1407G:p.P469P 0.53 0.72 0.32 0.52 0.39 0.59 0.4325 0.6590 0.2862 0.5120 0.3552 0.3873 0.4906 0.5648 0.46 0.62 0.38 0.45 . rs3735999 COSN23012231;COSN23013010 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4186 0.6549 0.2838 0.4778 0.5103 0.3766 0.3762 0.4200 0.5585 0.5021 0.6794 0.3666 0.5504 0.5480 0.3592 0.4248 0.4551 hom 656.23 22 8 143746069 . T C 656.23 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.83;VQSLOD=12.8189;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:57.17:689,57,0 8 143747271 143747271 C G exonic JRK synonymous SNV JRK:NM_001077527:exon2:c.G207C:p.S69S,JRK:NM_001279352:exon2:c.G207C:p.S69S,JRK:NM_003724:exon2:c.G207C:p.S69S 0.4 0.33 0.28 0.48 0.35 0.54 0.3594 0.3353 0.2532 0.4842 0.2944 0.3313 0.4198 0.5090 0.32 0.31 0.33 0.38 . rs2978973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3451 0.3172 0.2465 0.4277 0.4825 0.2740 0.3200 0.3537 0.5006 0.3120 0.3154 0.2703 0.4470 0.4684 0.2788 0.3004 0.3136 hom 1140.25 38 8 143747271 . C G 1140.25 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7732;MQ=59.39;MQ0=0;QD=30.01;VQSLOD=8.0912;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1173,99,0 8 143816828 143816828 G A exonic THEM6 nonsynonymous SNV THEM6:NM_016647:exon2:c.G598A:p.G200R 0.0022 . 0.0029 . 0.008 0.001 0.0194 0.0017 0.0187 0.0006 0.0095 0.0354 0.0354 0.0013 0.0089 0.0014 0.013 . 0.016 rs11540544 . . . . . . . . . . . . . 0.078 0.339 T 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1.000 0.520 D 2.51 0.734 M 0.93 0.441 T -2.71 0.577 D 0.323 0.384 -0.814 0.543 T 0.152 0.481 T . . . 2.217 0.328 17.62 0.983 0.399 0.893 0.494 D c 0.097 0.084 1.000 0.747 0.672 0.522 0 4.07 0.466 3.147 0.501 0.949 0.536 0.952 0.329 0.108 0.192 11.646 0.503 . . . 0.0086 0.0013 0.0050 0.0297 0 0.0028 0.0133 0.0085 0.0014 0.0067 0.0025 0.0060 0.0199 0 0.0011 0.0111 0.0051 hom 446.21 14 8 143816828 . G A 446.21 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.87;VQSLOD=12.7290;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.11:479,39,0 8 143833850 143833850 G A exonic LYPD2 nonsynonymous SNV LYPD2:NM_205545:exon1:c.C20T:p.A7V 0.25 0.2 0.16 0.4 0.19 0.28 0.2128 0.2136 0.2139 0.4044 0.1621 0.1797 0.2234 0.2625 0.19 0.21 0.18 0.28 0.16 rs11775636 COSM4162719 1(thyroid) . . . . . . . . . . . 0.444 0.091 T 0.002 0.090 B 0.001 0.040 B 0.084 0.024 N 1 0.090 P 0 0.065 N -1.6 0.822 D -0.63 0.185 N 0.006 0.000 -1.097 0.044 T 0.000 0.000 T . . . -2.015 0.008 0.001 0.206 0.007 0.004 0.020 N c -1.848 -1.937 1.000 0.747 0.403 0.052 0 -8.41 0.008 -2.202 0.013 -1.702 0.008 0.000 0.063 0.000 0.016 8.505 0.322 . ENSG00000126233.1|ENSG00000253741.1 Adrenal_Gland|Skin_Sun_Exposed_Lower_leg 0.2086 0.2052 0.2042 0.2406 0.3954 0.1520 0.1743 0.2085 0.2640 0.1888 0.1985 0.2081 0.2285 0.3799 0.1506 0.1708 0.1731 hom 2172.03 79 8 143833850 . G A 2172.03 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.688;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;MQRankSum=-0.178;QD=27.49;ReadPosRankSum=-0.933;VQSLOD=7.3686;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,77:79:99:2205,177,0 8 143833856 143833856 C T exonic LYPD2 nonsynonymous SNV LYPD2:NM_205545:exon1:c.G14A:p.R5Q 0.23 0.15 0.16 0.4 0.19 0.28 0.2082 0.1610 0.2120 0.4051 0.1617 0.1798 0.2198 0.2624 0.17 0.16 0.18 0.25 0.16 rs11778314 COSM1455272 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.307 0.141 T 0.01 0.144 B 0.001 0.040 B 0.746 0.097 N 1 0.090 P 2.265 0.646 M -0.77 0.735 T -0.32 0.123 N 0.041 0.028 -1.008 0.277 T 0.000 0.000 T . . . 0.493 0.141 7.375 0.951 0.256 0.021 0.061 N c -1.106 -1.215 0.999 0.375 0.403 0.052 0 -2.4 0.062 -0.993 0.038 -0.331 0.074 0.000 0.063 0.000 0.016 5.400 0.155 . ENSG00000126233.1|ENSG00000130193.7 Adrenal_Gland|Brain_Cerebellum 0.2050 0.1563 0.2023 0.2406 0.3949 0.1515 0.1740 0.2058 0.2638 0.1759 0.1545 0.2033 0.2285 0.3797 0.1503 0.1702 0.1701 hom 2291.24 73 8 143833856 . C T 2291.24 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;QD=31.39;VQSLOD=8.8505;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2324,184,0 8 143960597 143960597 G A exonic CYP11B1 synonymous SNV CYP11B1:NM_000497:exon2:c.C246T:p.D82D,CYP11B1:NM_001026213:exon2:c.C246T:p.D82D 0.3 0.036 0.46 0.31 0.46 0.38 0.3979 0.0998 0.4273 0.3030 0.4799 0.4393 0.4317 0.4124 0.33 0.11 0.44 0.32 0.43 rs5283 COSM4162721 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign Hyperaldosteronism\x2c_familial\x2c_type_I|Congenital_adrenal_hyperplasia RCV000293653.1|RCV000385596.1 MedGen:OMIM:Orphanet|MedGen:Orphanet:SNOMED_CT C1260386:103900:ORPHA403|C0001627:ORPHA418:237751000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4094 0.0939 0.4224 0.5106 0.3034 0.4901 0.4367 0.4365 0.4171 0.3468 0.1102 0.4246 0.55 0.3290 0.4957 0.4382 0.4302 het 2128.48 185 8 143960597 . G A 2128.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.335;DP=185;Dels=0.00;FS=5.408;HRun=2;HaplotypeScore=8.6609;MQ=59.35;MQ0=0;MQRankSum=1.316;QD=11.51;ReadPosRankSum=-0.707;VQSLOD=4.0002;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,85:185:99:2158,0,2838 8 143995761 143995761 C T exonic CYP11B2 synonymous SNV CYP11B2:NM_000498:exon5:c.G873A:p.A291A 0.82 0.94 0.9 0.48 0.98 0.81 0.9094 0.9454 0.8548 0.4798 0.9470 0.9779 0.9040 0.8557 0.97 0.95 0.98 0.86 0.98 rs4536 . . Benign|Benign|Benign Hyperaldosteronism\x2c_familial\x2c_type_I|Corticosterone_methyloxidase_type_1_deficiency|Corticosterone_methyloxidase_type_2_deficiency RCV000263084.1|RCV000315890.1|RCV000354330.1 MedGen:OMIM:Orphanet|MedGen:OMIM|MedGen:OMIM C1260386:103900:ORPHA403|CN074214:203400|C3463917:610600 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9059 0.9461 0.8568 0.9669 0.4764 0.9475 0.9807 0.9327 0.8533 0.9334 0.9503 0.8938 0.9570 0.4827 0.9499 0.9698 0.9379 hom 2890.62 92 8 143995761 . C T 2890.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.657;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;MQRankSum=1.130;QD=31.42;ReadPosRankSum=0.414;VQSLOD=8.5239;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,91:92:99:2924,202,0 8 144124609 144124609 T C exonic C8orf31 nonsynonymous SNV C8orf31:NM_173687:exon3:c.T116C:p.L39P 0.71 0.74 0.69 0.73 0.64 0.71 0.6707 0.7317 0.6689 0.7448 0.7014 0.6457 0.7018 0.6818 0.67 0.72 0.64 0.65 0.61 rs11136300 COSM4162724 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6682 0.7331 0.6701 0.6074 0.7408 0.7004 0.6443 0.6615 0.6771 0.6801 0.7211 0.6695 0.5861 0.7417 0.6994 0.6482 0.6714 het 484.34 33 8 144124609 . T C 484.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.892;DP=33;Dels=0.00;FS=3.247;HRun=1;HaplotypeScore=4.2842;MQ=59.30;MQ0=0;MQRankSum=-1.161;QD=14.68;ReadPosRankSum=-0.940;VQSLOD=4.7205;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,20:33:99:514,0,370 8 144239859 144239859 A G exonic LY6H synonymous SNV LY6H:NM_001135655:exon4:c.T294C:p.C98C,LY6H:NM_002347:exon4:c.T231C:p.C77C,LY6H:NM_001130478:exon5:c.T294C:p.C98C 0.44 0.72 0.33 0.28 0.4 0.33 0.4095 0.6671 0.2616 0.2930 0.3192 0.4386 0.3916 0.3314 0.51 0.65 0.44 0.54 0.41 rs10109061 COSM4909395;COSM150558 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3949 0.6652 0.2621 0.4830 0.2885 0.3238 0.4368 0.4244 0.3326 0.4644 0.6676 0.2995 0.5265 0.2838 0.3287 0.4091 0.4049 hom 3667.72 115 8 144239859 . A G 3667.72 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=31.89;VQSLOD=9.0562;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3667,286,0 8 144240257 144240257 C G exonic LY6H synonymous SNV LY6H:NM_001135655:exon3:c.G213C:p.T71T,LY6H:NM_002347:exon3:c.G150C:p.T50T,LY6H:NM_001130478:exon4:c.G213C:p.T71T 0.32 0.31 0.3 0.28 0.39 0.33 0.3765 0.3035 0.2392 0.2896 0.3162 0.4322 0.3753 0.3630 0.39 0.31 0.43 0.42 0.39 rs9694368 COSM150559;COSM4783660 1(breast);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3645 0.2948 0.2396 0.4668 0.2854 0.3218 0.4303 0.4027 0.3355 0.3593 0.3149 0.2733 0.51 0.2838 0.3253 0.4015 0.3827 hom 6971.54 229 8 144240257 . C G 6971.54 Mask AC=2;AF=1.00;AN=2;DP=229;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.0438;MQ=59.84;MQ0=0;QD=30.44;VQSLOD=7.7872;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:6970,557,0 8 144332012 144332012 T C exonic ZFP41 startloss ZFP41:NM_001271156:exon2:c.T2C:p.M2del,ZFP41:NM_173832:exon2:c.T2C:p.M2del 0.87 0.86 0.89 0.85 0.83 0.93 0.8451 0.8537 0.9060 0.8495 0.8637 0.8118 0.8313 0.9229 0.83 0.86 0.81 0.85 0.52 rs6558339 . . . . . . . . . . . . . 0.007 0.599 D . . . . . . . . . 0.987 0.245 P . . . 3.35 0.060 T -1.39 0.344 N . . . . . . . . . . . 0.487 0.141 7.332 0.774 0.114 0.006 0.028 N n -0.453 -0.059 0.999 0.394 0.164 0.030 0 -3.89 0.039 -1.206 0.031 -0.926 0.025 0.000 0.063 0.173 0.211 0.653 0.008 . ENSG00000158106.8|ENSG00000158106.8|ENSG00000181638.13|ENSG00000158106.8 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach 0.8449 0.8553 0.9005 0.7526 0.8464 0.8660 0.8108 0.8154 0.9227 0.8429 0.8603 0.8795 0.7384 0.8494 0.8730 0.8239 0.8599 hom 432.33 19 8 144332012 . T C 432.33 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;QD=22.75;VQSLOD=6.8857;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:39.10:465,39,0 8 144332082 144332082 T C exonic ZFP41 synonymous SNV ZFP41:NM_001271156:exon2:c.T72C:p.S24S,ZFP41:NM_173832:exon2:c.T72C:p.S24S 0.62 0.55 0.66 0.74 0.52 0.64 0.5670 0.5498 0.6710 0.7561 0.5846 0.5111 0.5115 0.6273 0.53 0.54 0.52 0.63 0.38 rs11136275 COSM3763071 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5678 0.5409 0.6634 0.4597 0.7502 0.5811 0.5062 0.5366 0.6268 0.5535 0.5443 0.6232 0.4267 0.7431 0.5794 0.5303 0.5658 het 83.64 11 8 144332082 . T C 83.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DP=11;Dels=0.00;FS=5.441;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.034;QD=7.60;ReadPosRankSum=-0.896;VQSLOD=4.2005;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,4:11:99:114,0,160 8 144351632 144351632 A G exonic GLI4 synonymous SNV GLI4:NM_138465:exon2:c.A66G:p.P22P 0.98 1. 0.97 1. 0.95 0.98 0.9521 0.9902 0.9593 0.9999 0.9669 0.9324 0.9481 0.9716 0.96 0.99 0.94 0.96 0.93 rs6558341 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9520 0.9905 0.9562 0.9028 0.9998 0.9652 0.9344 0.9423 0.9736 0.9604 0.9890 0.9532 0.8940 1 0.9685 0.9394 0.9593 hom 7742.26 238 8 144351632 . A G 7742.26 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.674;DP=238;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.3187;MQ=59.36;MQ0=0;MQRankSum=1.717;QD=32.53;ReadPosRankSum=0.431;VQSLOD=6.4064;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,237:238:99:7715,615,0 8 144378868 144378868 A G exonic ZNF696 synonymous SNV ZNF696:NM_030895:exon3:c.A1023G:p.R341R 0.9 0.94 0.92 0.84 0.86 0.93 0.8502 0.9205 0.9132 0.8206 0.8509 0.8118 0.8233 0.9168 0.87 0.93 0.84 0.77 0.43 rs7386259 COSM1755601 1(urinary_tract);1(thyroid);15(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8576 0.9252 0.9128 0.7848 0.8250 0.8690 0.8214 0.8343 0.9206 0.8797 0.9365 0.9062 0.7973 0.8401 0.8855 0.8493 0.8852 hom 350.77 12 8 144378868 . A G 350.77 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;QD=29.23;VQSLOD=7.6606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:384,30,0 8 144403449 144403449 G A exonic TOP1MT synonymous SNV TOP1MT:NM_001258447:exon8:c.C774T:p.G258G,TOP1MT:NM_052963:exon8:c.C1068T:p.G356G,TOP1MT:NM_001258446:exon9:c.C774T:p.G258G 0.12 0.24 0.081 0.089 0.09 0.054 0.0993 0.2062 0.0525 0.0645 0.0793 0.1036 0.0718 0.0757 0.14 0.19 0.11 0.15 0.074 rs61631623 COSM3763072 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0954 0.1988 0.0596 0.1587 0.0646 0.0719 0.1018 0.0933 0.0745 0.1245 0.1905 0.0728 0.1523 0.0760 0.0793 0.1063 0.0951 het 764.56 56 8 144403449 . G A 764.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.483;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.0972;MQ=58.07;MQ0=0;MQRankSum=0.647;QD=13.65;ReadPosRankSum=0.959;VQSLOD=4.9850;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,28:56:99:795,0,820 8 144403485 144403485 G C exonic TOP1MT synonymous SNV TOP1MT:NM_001258447:exon8:c.C738G:p.R246R,TOP1MT:NM_052963:exon8:c.C1032G:p.R344R,TOP1MT:NM_001258446:exon9:c.C738G:p.R246R 0.27 0.5 0.19 0.077 0.31 0.2 0.2691 0.4679 0.1611 0.0661 0.2783 0.2947 0.3115 0.2175 0.35 0.48 0.28 0.23 0.11 rs11544482 COSM1162623 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2587 0.4727 0.1670 0.2754 0.0645 0.2738 0.2943 0.2687 0.2149 0.3250 0.4706 0.2017 0.28 0.0716 0.2844 0.2876 0.2894 het 803.41 68 8 144403485 . G C 803.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.761;DP=68;Dels=0.00;FS=3.541;HRun=1;HaplotypeScore=1.4942;MQ=58.33;MQ0=0;MQRankSum=-0.154;QD=11.81;ReadPosRankSum=-1.217;VQSLOD=4.6388;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,30:68:99:833,0,949 8 144406705 144406705 C T exonic TOP1MT nonsynonymous SNV TOP1MT:NM_001258447:exon6:c.G472A:p.V158I,TOP1MT:NM_052963:exon6:c.G766A:p.V256I,TOP1MT:NM_001258446:exon7:c.G472A:p.V158I 0.28 0.5 0.19 0.075 0.31 0.2 0.2706 0.4823 0.1606 0.0657 0.2864 0.2944 0.3064 0.2174 0.35 0.49 0.28 0.3 0.29 rs11544484 COSM3763073 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.042 0.201 B 0.026 0.195 B 0.353 0.138 N 0.999 0.215 P -0.91 0.013 N 1.24 0.367 T 0.35 0.042 N 0.018 0.255 -1.042 0.168 T 0.000 0.000 T . . . -1.329 0.021 0.004 0.375 0.025 0.237 0.219 N c -1.760 -1.751 1.000 0.480 0.707 0.730 0 -7.1 0.014 1.444 0.345 -0.657 0.040 1.000 0.715 0.020 0.134 9.912 0.404 DNA topoisomerase I\x2c DNA binding\x2c eukaryotic-type;DNA topoisomerase I\x2c DNA binding\x2c eukaryotic-type|DNA topoisomerase I\x2c DNA binding\x2c mixed alpha/beta motif\x2c eukaryotic-type|DNA topoisomerase I\x2c eukaryotic-type ENSG00000158106.8|ENSG00000184428.8|ENSG00000253716.1|ENSG00000253716.1|ENSG00000253716.1|ENSG00000254859.1|ENSG00000185730.3|ENSG00000184428.8|ENSG00000184428.8|ENSG00000253716.1|ENSG00000184428.8|ENSG00000253716.1|ENSG00000253716.1|ENSG00000158106.8|ENSG00000184428.8|ENSG00000158106.8|ENSG00000184428.8|ENSG00000253716.1|ENSG00000253716.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.2620 0.4883 0.1701 0.2761 0.0652 0.2829 0.2956 0.2718 0.2170 0.3299 0.4860 0.2031 0.2815 0.0712 0.2901 0.2868 0.2929 het 2243.13 169 8 144406705 . C T 2243.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.311;DP=169;Dels=0.00;FS=4.054;HRun=0;HaplotypeScore=1.6624;MQ=59.34;MQ0=0;MQRankSum=-1.828;QD=13.27;ReadPosRankSum=-0.565;VQSLOD=5.3938;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,87:169:99:2273,0,2171 8 144413416 144413416 G A exonic TOP1MT synonymous SNV TOP1MT:NM_052963:exon2:c.C216T:p.D72D 0.19 0.46 0.089 0.081 0.11 0.075 0.1259 0.4134 0.0666 0.0633 0.1017 0.1098 0.0947 0.0946 0.21 0.41 0.11 0.25 0.16 rs2450772 COSM4417083 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1198 0.4140 0.0743 0.1737 0.0669 0.1016 0.1076 0.1167 0.0928 0.1908 0.4027 0.0967 0.1656 0.0793 0.1045 0.1105 0.1186 het 1650.27 119 8 144413416 . G A 1650.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.595;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3098;MQ=59.49;MQ0=0;MQRankSum=0.979;QD=13.87;ReadPosRankSum=-0.189;VQSLOD=6.4026;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,65:119:99:1680,0,1349 8 144620183 144620183 T C exonic ZC3H3 nonsynonymous SNV ZC3H3:NM_015117:exon2:c.A1354G:p.S452G 0.78 0.69 0.76 0.93 0.74 0.79 0.7479 0.6931 0.7066 0.9218 0.7821 0.7325 0.7352 0.7695 0.72 0.69 0.73 0.69 0.67 rs4874147 COSM4162731 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.477 N 1 0.090 P -1.5 0.005 N 4.21 0.027 T 0.83 0.018 N 0.021 0.005 -1.016 0.249 T 0.000 0.000 T . . . -1.172 0.026 0.007 0.512 0.044 0.006 0.026 N c -1.358 -1.196 1.000 0.480 0.635 0.413 0 4.33 0.509 0.882 0.276 0.069 0.176 0.004 0.165 0.093 0.186 8.918 0.346 . ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000254859.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000255050.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000255050.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000255050.1|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000147813.11|ENSG00000255050.1|ENSG00000254859.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000014164.6|ENSG00000254859.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.7457 0.6889 0.7145 0.7144 0.9244 0.7775 0.7297 0.7356 0.7515 0.7371 0.6832 0.7172 0.6788 0.9420 0.7815 0.7362 0.7684 het 1393.19 107 8 144620183 . T C 1393.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.581;DP=107;Dels=0.00;FS=0.773;HRun=1;HaplotypeScore=1.4538;MQ=59.35;MQ0=0;MQRankSum=0.546;QD=13.02;ReadPosRankSum=-0.034;VQSLOD=6.5989;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,56:107:99:1423,0,1447 8 144620342 144620342 T C exonic ZC3H3 nonsynonymous SNV ZC3H3:NM_015117:exon2:c.A1195G:p.S399G 0.42 0.58 0.47 0.21 0.35 0.45 0.3672 0.5444 0.4113 0.2184 0.4088 0.3355 0.3772 0.4133 0.39 0.53 0.32 0.36 0.32 rs1318196 COSM454139 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.010 0.302 N 1 0.090 P -2.015 0.002 N 4.22 0.027 T -0.29 0.117 N 0.014 0.002 -0.987 0.333 T 0.000 0.000 T . . . -0.233 0.073 0.933 0.707 0.091 0.057 0.115 N c -1.177 -0.940 1.000 0.517 0.707 0.730 0 3.82 0.430 1.421 0.342 0.069 0.176 0.090 0.224 0.808 0.339 7.957 0.290 . ENSG00000147813.11|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000104518.6|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000254859.1|ENSG00000204839.4|ENSG00000014164.6|ENSG00000254859.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.3660 0.5443 0.4137 0.3671 0.2208 0.4078 0.3286 0.3688 0.4112 0.3943 0.5332 0.4129 0.3543 0.2140 0.4014 0.3337 0.3538 het 797.26 88 8 144620342 . T C 797.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.093;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6463;MQ=58.45;MQ0=0;MQRankSum=-0.631;QD=9.06;ReadPosRankSum=0.909;VQSLOD=4.6957;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,34:88:99:827,0,1426 8 144620660 144620660 G A exonic ZC3H3 nonsynonymous SNV ZC3H3:NM_015117:exon2:c.C877T:p.R293W 0.0012 . 0.0014 . 0.003 0.002 0.0046 0.0007 0.0010 0.0002 0.0125 0.0061 0.0034 0.0024 0.003 0.0007 0.0042 . 0.0082 rs143014673 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.791 0.559 P 0.082 0.208 N 1 0.090 N 2.015 0.552 M 3.68 0.042 T -2.64 0.566 D 0.466 0.517 -1.100 0.041 T 0.029 0.124 T . . . 6.191 0.854 28.6 0.999 0.954 0.173 0.196 N c 0.139 0.030 1.000 0.480 0.737 0.974 0 2.29 0.275 1.468 0.347 -0.310 0.079 0.935 0.322 0.094 0.187 9.165 0.360 . . . 0.0045 0.0005 0.0015 0 5.802e-05 0.0157 0.0053 0.0053 0.0027 0.0057 0.0007 0.0036 0 0 0.0135 0.0071 0.0133 het 2278.82 171 8 144620660 . G A 2278.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.280;DP=171;Dels=0.00;FS=1.996;HRun=0;HaplotypeScore=7.6919;MQ=58.55;MQ0=0;MQRankSum=0.514;QD=13.33;ReadPosRankSum=0.134;VQSLOD=3.1990;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,84:171:99:2309,0,2210 8 144620871 144620871 A G exonic ZC3H3 synonymous SNV ZC3H3:NM_015117:exon2:c.T666C:p.S222S 0.19 0.26 0.18 0.13 0.15 0.19 0.1537 0.2213 0.1396 0.1335 0.1725 0.1409 0.1702 0.1758 0.15 0.2 0.13 0.2 0.11 rs3750209 COSM454140 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1507 0.2158 0.1510 0.1285 0.1330 0.1728 0.1358 0.1631 0.1733 0.1678 0.2118 0.1758 0.1126 0.1488 0.1649 0.1466 0.1513 het 466.37 41 8 144620871 . A G 466.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.157;DP=41;Dels=0.00;FS=7.497;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=0.198;QD=11.37;ReadPosRankSum=0.569;VQSLOD=4.8818;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:496,0,648 8 144621035 144621035 G A exonic ZC3H3 nonsynonymous SNV ZC3H3:NM_015117:exon2:c.C502T:p.R168W 0.13 0.042 0.17 0.13 0.15 0.19 0.1368 0.0406 0.1291 0.1329 0.1727 0.1394 0.1640 0.1755 0.098 0.039 0.13 0.16 0.09 rs3750208 . . . . . . . . . . . . . 0.003 0.682 D 0.0 0.026 B 0.0 0.013 B 0.106 0.196 N 1 0.090 P 0 0.065 N 2.25 0.178 T -1.16 0.297 N 0.057 0.040 -1.021 0.235 T 0.000 0.000 T . . . 2.453 0.356 19.16 0.980 0.372 0.102 0.156 N c -1.205 -1.175 1.000 0.489 0.737 0.974 0 2.67 0.306 0.580 0.233 -0.982 0.023 0.001 0.137 0.001 0.043 7.540 0.267 . ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000014164.6|ENSG00000014164.6|ENSG00000014164.6|ENSG00000014164.6 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Thyroid|Whole_Blood 0.1377 0.0358 0.1404 0.1130 0.1324 0.1774 0.1353 0.1496 0.1727 0.1189 0.0443 0.1587 0.0960 0.1477 0.1637 0.1455 0.1431 het 415.33 27 8 144621035 . G A 415.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.443;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=0.469;QD=15.38;ReadPosRankSum=1.308;VQSLOD=6.8141;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,16:27:99:445,0,275 8 144621084 144621084 T G exonic ZC3H3 nonsynonymous SNV ZC3H3:NM_015117:exon2:c.A453C:p.E151D 0.42 0.58 0.47 0.21 0.35 0.44 0.3693 0.5535 0.4121 0.2206 0.4097 0.3379 0.3815 0.4132 0.39 0.53 0.32 0.41 0.27 rs3750207 COSM3763075 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.221 0.161 N 1 0.090 P -1.655 0.004 N 4.26 0.026 T 0.44 0.033 N 0.033 0.013 -1.013 0.259 T 0.000 0.000 T . . . -2.456 0.004 0.001 0.542 0.050 0.010 0.037 N c -1.844 -1.768 1.000 0.489 0.737 0.974 0 -2.42 0.061 -1.565 0.022 -0.723 0.036 0.000 0.063 0.001 0.043 2.072 0.034 . ENSG00000147813.11|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000104518.6|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000254859.1|ENSG00000204839.4|ENSG00000014164.6|ENSG00000254859.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.3664 0.5470 0.4141 0.3671 0.2216 0.4077 0.3292 0.3692 0.4108 0.3940 0.5329 0.4141 0.3543 0.2095 0.4006 0.3336 0.3548 het 603.40 36 8 144621084 . T G 603.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.022;DP=36;Dels=0.00;FS=1.715;HRun=0;HaplotypeScore=5.9673;MQ=59.31;MQ0=0;MQRankSum=0.481;QD=16.76;ReadPosRankSum=0.032;VQSLOD=4.8183;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:15,21:36:99:633,0,437 8 144621091 144621091 A T exonic ZC3H3 nonsynonymous SNV ZC3H3:NM_015117:exon2:c.T446A:p.F149Y 0.16 0.16 0.17 0.13 0.15 0.19 0.1449 0.1409 0.1335 0.1328 0.1695 0.1387 0.1633 0.1745 0.13 0.13 0.13 0.17 0.12 rs3750206 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.578 0.055 N 1 0.090 P -0.77 0.017 N 4.24 0.026 T 0.26 0.044 N 0.042 0.022 -0.960 0.392 T 0.000 0.000 T . . . -2.021 0.008 0.001 0.729 0.098 0.021 0.061 N c -1.846 -1.838 1.000 0.747 0.737 0.974 0 -6.68 0.016 -1.939 0.016 -0.210 0.100 0.000 0.063 0.133 0.200 2.290 0.039 . ENSG00000104518.6|ENSG00000254859.1|ENSG00000014164.6|ENSG00000014164.6|ENSG00000014164.6|ENSG00000014164.6|ENSG00000014164.6 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Thyroid|Whole_Blood 0.1448 0.1364 0.1455 0.1132 0.1322 0.1775 0.1356 0.1559 0.1730 0.1438 0.1319 0.1647 0.0960 0.1439 0.1647 0.1454 0.1477 het 567.73 39 8 144621091 . A T 567.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.613;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9799;MQ=59.36;MQ0=0;MQRankSum=-1.086;QD=14.56;ReadPosRankSum=0.147;VQSLOD=4.9359;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,21:39:99:598,0,490 8 144649968 144649968 C T exonic MROH6 nonsynonymous SNV MROH6:NM_001100878:exon12:c.G1855A:p.A619T 0.8 0.64 0.85 0.96 0.77 0.83 0.8123 0.6848 0.8843 0.9873 0.8388 0.7875 0.8128 0.8324 0.76 0.71 0.79 0.72 . rs13255489 COSM4162737;COSM4162736 1(thyroid) . . . . . . . . . . . 0.403 0.104 T 0.025 0.179 B 0.011 0.145 B . . . 1 0.090 P -0.205 0.041 N 1.29 0.358 T -1.09 0.283 N 0.052 0.034 -1.053 0.136 T 0.000 0.000 T . . . 0.395 0.132 6.569 0.907 0.193 0.049 0.105 N c -1.401 -1.451 1.000 0.500 0.660 0.495 0 -2.57 0.059 -1.790 0.018 -2.738 0.002 0.000 0.063 0.000 0.016 5.194 0.144 Armadillo-like helical|Armadillo-type fold ENSG00000147813.11|ENSG00000255050.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000014164.6|ENSG00000254859.1|ENSG00000254859.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000104518.6|ENSG00000254859.1|ENSG00000255050.1|ENSG00000147813.11|ENSG00000254859.1|ENSG00000014164.6|ENSG00000254859.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.8169 0.6748 0.8798 0.8383 0.9881 0.8344 0.7833 0.8197 0.8319 0.7749 0.6745 0.8437 0.8377 0.9871 0.8287 0.7908 0.8025 hom 316.57 11 8 144649968 . C T 316.57 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.78;VQSLOD=13.4212;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.08:350,30,0 8 144654249 144654249 G A exonic MROH6 nonsynonymous SNV MROH6:NM_001100878:exon2:c.C401T:p.T134I 0.32 0.11 0.41 0.36 0.52 0.29 0.4319 0.1686 0.3757 0.3552 0.4821 0.5150 0.4326 0.3130 0.41 0.17 0.53 0.24 . rs10866911 COSM3763076;COSM3763077 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.042 0.440 D 0.037 0.195 B 0.018 0.173 B . . . 1.000 0.182 P 0.975 0.246 L 4.19 0.243 T -1.17 0.303 N 0.071 0.146 -0.915 0.462 T 0.000 0.000 T . . . 2.838 0.402 21.6 0.995 0.697 0.284 0.233 N c -0.909 -0.810 1.000 0.517 0.652 0.477 0 -1.38 0.085 1.423 0.342 -0.385 0.065 0.999 0.424 0.894 0.377 6.138 0.193 . ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000204839.4|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000104518.6|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000104524.9|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000104524.9|ENSG00000255050.1|ENSG00000104518.6|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000255050.1|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4325 0.1567 0.3951 0.4024 0.3517 0.4780 0.5217 0.4489 0.3094 0.3985 0.1656 0.4187 0.4205 0.3705 0.4770 0.5118 0.4867 hom 773.65 26 8 144654249 . G A 773.65 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.76;VQSLOD=13.6562;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:72.17:807,72,0 8 144654255 144654255 A G exonic MROH6 nonsynonymous SNV MROH6:NM_001100878:exon2:c.T395C:p.V132A 0.77 0.67 0.73 0.91 0.82 0.76 0.7955 0.6727 0.7649 0.8840 0.7679 0.8160 0.7856 0.7720 0.79 0.7 0.83 0.69 . rs4874153 COSM454146;COSM454147 1(thyroid) . . . . . . . . . . . 1.0 0.058 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.975 0.012 N 4.19 0.217 T 1.6 0.011 N 0.048 0.111 -0.975 0.362 T 0.000 0.000 T . . . 0.443 0.137 6.978 0.795 0.123 0.004 0.019 N c -1.013 -0.856 1.000 0.747 0.652 0.477 0 4.3 0.504 -0.293 0.083 -0.326 0.075 0.000 0.063 0.959 0.439 8.222 0.305 . ENSG00000104518.6|ENSG00000254859.1|ENSG00000204839.4|ENSG00000104518.6|ENSG00000254859.1|ENSG00000104518.6|ENSG00000104518.6|ENSG00000104518.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000204839.4|ENSG00000104518.6|ENSG00000104518.6|ENSG00000104518.6|ENSG00000104518.6|ENSG00000104518.6|ENSG00000204839.4|ENSG00000014164.6|ENSG00000104518.6|ENSG00000254859.1|ENSG00000204839.4|ENSG00000104518.6|ENSG00000104518.6|ENSG00000104518.6|ENSG00000104518.6|ENSG00000104518.6|ENSG00000204839.4|ENSG00000014164.6|ENSG00000254859.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.7946 0.6700 0.7705 0.7065 0.8868 0.7737 0.8236 0.7924 0.7701 0.7781 0.6847 0.7885 0.6887 0.8955 0.7702 0.8208 0.8106 hom 637.79 22 8 144654255 . A G 637.79 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.99;VQSLOD=12.8790;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:60.14:671,60,0 8 144654594 144654594 G T exonic MROH6 nonsynonymous SNV MROH6:NM_001100878:exon1:c.C291A:p.H97Q 0.32 0.1 0.41 0.36 0.52 0.29 0.4499 0.1645 0.3998 0.3662 0.5142 0.5294 0.4369 0.3188 0.41 0.17 0.52 0.26 . rs4873803 COSM3763078;COSM3763079 4(large_intestine) . . . . . . . . . . . 0.465 0.201 T 0.003 0.102 B 0.003 0.080 B . . . 1 0.090 P -0.345 0.033 N 4.15 0.233 T -0.2 0.102 N 0.038 0.159 -0.910 0.469 T 0.000 0.000 T . . . -0.318 0.067 0.603 0.847 0.149 0.041 0.095 N c -1.196 -1.223 1.000 0.747 0.598 0.340 0 -3.9 0.039 -0.984 0.038 0.951 0.538 0.000 0.063 0.513 0.273 3.009 0.056 . ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000204839.4|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000104518.6|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000104524.9|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000104524.9|ENSG00000255050.1|ENSG00000104518.6|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000255050.1|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4246 0.1450 0.3959 0.3944 0.3497 0.4722 0.5187 0.4405 0.3003 0.3976 0.1585 0.4200 0.4205 0.3721 0.4828 0.5120 0.4877 hom 319.45 13 8 144654594 . G T 319.45 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9916;MQ=58.20;MQ0=0;QD=24.57;VQSLOD=6.4036;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:30.08:352,30,0 8 144654693 144654693 G C exonic MROH6 synonymous SNV MROH6:NM_001100878:exon1:c.C192G:p.P64P 0.32 0.11 0.41 0.36 0.52 0.29 0.4490 0.1831 0.3966 0.3691 0.5182 0.5258 0.4457 0.3310 0.41 0.16 0.52 0.25 . rs4873804 COSM454148;COSM454149 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4280 0.1468 0.3945 0.4121 0.3471 0.4751 0.5172 0.4436 0.3060 0.3993 0.1605 0.4187 0.4238 0.3702 0.4828 0.5146 0.4897 hom 541.30 18 8 144654693 . G C 541.30 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.07;VQSLOD=12.7594;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:48.14:574,48,0 8 144658711 144658711 G A exonic NAPRT synonymous SNV NAPRT:NM_001286829:exon7:c.C913T:p.L305L,NAPRT:NM_145201:exon7:c.C913T:p.L305L 0.4 0.17 0.46 0.39 0.63 0.43 0.5227 0.2303 0.4208 0.3821 0.5295 0.6191 0.5266 0.4572 0.49 0.23 0.63 0.32 0.57 rs872935 COSM3774322;COSM3774323;COSM3774324 1(breast);1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5196 0.2130 0.4432 0.5084 0.3776 0.5263 0.6242 0.5427 0.4517 0.4751 0.2246 0.4833 0.5267 0.3944 0.5299 0.6098 0.5697 hom 1210.64 37 8 144658711 . G A 1210.64 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.50;MQ0=0;QD=32.72;VQSLOD=9.5005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:37:99:1244,99,0 8 144662353 144662353 G A exonic EEF1D synonymous SNV EEF1D:NM_001130056:exon6:c.C564T:p.A188A,EEF1D:NM_001317743:exon6:c.C564T:p.A188A,EEF1D:NM_001330646:exon6:c.C564T:p.A188A,EEF1D:NM_001130057:exon7:c.C636T:p.A212A,EEF1D:NM_001195203:exon7:c.C579T:p.A193A,EEF1D:NM_001289950:exon7:c.C636T:p.A212A,EEF1D:NM_001960:exon7:c.C636T:p.A212A,EEF1D:NM_001130055:exon8:c.C636T:p.A212A,EEF1D:NM_001130053:exon9:c.C1734T:p.A578A,EEF1D:NM_032378:exon9:c.C1734T:p.A578A 0.37 0.098 0.45 0.4 0.62 0.41 0.5114 0.1630 0.4146 0.3664 0.5444 0.6131 0.5270 0.4433 0.47 0.17 0.62 0.27 0.54 rs1062391 COSM5619451;COSM5619450 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5105 0.1495 0.4304 0.4934 0.3642 0.5426 0.6204 0.5342 0.4401 0.4586 0.1641 0.4678 0.5067 0.3856 0.5477 0.6090 0.5673 hom 1703.50 52 8 144662353 . G A 1703.50 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6385;MQ=59.16;MQ0=0;QD=32.76;VQSLOD=9.6877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1737,135,0 8 144671244 144671244 C A exonic EEF1D synonymous SNV EEF1D:NM_001130053:exon3:c.G1008T:p.R336R,EEF1D:NM_032378:exon3:c.G1008T:p.R336R 0.64 0.49 0.75 0.51 0.85 0.69 0.7623 0.5374 0.6776 0.5032 0.8289 0.8506 0.795 0.7061 0.79 0.55 0.91 0.54 0.77 rs4874160 COSM1569153;COSM3763086 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7597 0.5103 0.6884 0.8188 0.4917 0.8255 0.8535 0.7943 0.7034 0.7254 0.5131 0.7196 0.8576 0.5025 0.8297 0.8407 0.8094 hom 692.55 22 8 144671244 . C A 692.55 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=31.48;VQSLOD=8.7428;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:60.18:726,60,0 8 144671685 144671685 G C exonic EEF1D nonsynonymous SNV EEF1D:NM_001130053:exon3:c.C567G:p.D189E,EEF1D:NM_032378:exon3:c.C567G:p.D189E 0.94 0.77 0.98 1. 1. 1. 0.9833 0.8092 0.9914 1 1 0.9995 0.9947 1 0.93 0.8 1. 0.86 0.82 rs6985081 COSM3763089;COSM3763090 6(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.977 0.081 N 1.000 0.588 P . . . . . . 0.16 0.052 N 0.008 0.052 -0.989 0.330 T 0.000 0.000 T . . . -0.948 0.034 0.020 0.174 0.005 0.036 0.088 N c -1.433 -1.305 1.000 0.747 0.672 0.522 0 3.54 0.395 -0.196 0.095 -0.017 0.130 0.002 0.151 0.003 0.074 7.218 0.250 Translation elongation factor EF1B/ribosomal protein S6 . . 0.9832 0.7888 0.9904 1 1 1 0.9995 0.9890 0.9997 0.9419 0.7970 0.9857 1 1 1 0.9995 0.9898 hom 488.01 15 8 144671685 . G C 488.01 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;QD=32.53;VQSLOD=8.4876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:521,42,0 8 144671922 144671922 G A exonic EEF1D synonymous SNV EEF1D:NM_001130053:exon3:c.C330T:p.R110R,EEF1D:NM_032378:exon3:c.C330T:p.R110R 0.64 0.48 0.75 0.51 0.85 0.69 0.7602 0.5200 0.6654 0.4961 0.8293 0.8517 0.7890 0.7062 0.74 0.51 0.85 0.55 0.79 rs3812448 COSM3763092;COSM3763091 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7579 0.5039 0.6953 0.8177 0.4946 0.8260 0.8542 0.7906 0.6953 0.7232 0.5061 0.7208 0.8576 0.5006 0.8293 0.8405 0.8108 hom 1098.24 34 8 144671922 . G A 1098.24 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;QD=32.30;VQSLOD=9.9353;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:93.28:1131,93,0 8 144681777 144681777 G T exonic TIGD5 nonsynonymous SNV TIGD5:NM_032862:exon1:c.G1704T:p.M568I 0.6 0.4 0.72 0.51 0.8 0.67 0.7448 0.5057 0.6886 0.5617 0.7958 0.8060 0.764 0.7224 0.69 0.47 0.8 0.45 0.66 rs10282929 . . . . . . . . . . . . . 0.719 0.039 T 0.0 0.026 B 0.0 0.013 B 0.766 0.066 N 1 0.090 P 0.345 0.112 N 1.69 0.270 T 0.13 0.055 N 0.013 0.002 -1.008 0.276 T 0.000 0.000 T . . . -1.593 0.015 0.002 0.795 0.124 0.165 0.192 N c -1.447 -1.460 1.000 0.747 0.490 0.173 0 -2.06 0.069 -0.306 0.082 -0.891 0.027 0.003 0.159 0.216 0.221 3.518 0.072 . ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000255050.1|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000255050.1|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.7088 0.4256 0.6617 0.7704 0.4996 0.7681 0.7942 0.7318 0.6819 0.6634 0.4259 0.6794 0.8113 0.4988 0.7763 0.7835 0.7495 hom 416.94 12 8 144681777 . G T 416.94 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.75;VQSLOD=14.6118;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:450,36,0 8 144688736 144688736 C G exonic PYCR3 nonsynonymous SNV PYCR3:NM_001329866:exon4:c.G426C:p.K142N,PYCR3:NM_023078:exon4:c.G486C:p.K162N 0.33 0.081 0.4 0.39 0.52 0.34 0.4443 0.1306 0.3786 0.3741 0.4937 0.5264 0.45 0.3689 0.4 0.14 0.54 0.21 0.52 rs2242090 COSM454155;COSM5505501 1(pancreas);1(thyroid);1(biliary_tract) . . . . . . . . . . . 0.178 0.221 T . . . . . . 0.467 0.123 N 1.000 0.090 P . . . -0.07 0.800 T -0.86 0.236 N 0.01 0.003 -0.961 0.390 T 0.000 0.000 T . . . 1.146 0.204 11.46 0.964 0.291 0.080 0.139 N c -0.471 -0.582 0.999 0.394 0.672 0.522 0 0.47 0.159 -0.513 0.063 0.935 0.490 0.000 0.063 0.686 0.306 1.679 0.026 NAD(P)-binding domain ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000104518.6|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000104524.9|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000181097.5|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000104524.9|ENSG00000255050.1|ENSG00000104518.6|ENSG00000147813.11|ENSG00000255050.1|ENSG00000204839.4|ENSG00000255050.1|ENSG00000147813.11|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000204839.4|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000147813.11|ENSG00000255050.1|ENSG00000271912.1|ENSG00000147813.11|ENSG00000255050.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4442 0.1160 0.3914 0.4472 0.3703 0.4833 0.5306 0.4669 0.3626 0.3952 0.1266 0.4236 0.4503 0.3910 0.4816 0.5237 0.4846 hom 1608.91 52 8 144688736 . C G 1608.91 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=60.00;MQ0=0;QD=30.94;VQSLOD=8.3641;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1642,132,0 8 144697041 144697041 A G exonic TSTA3 synonymous SNV TSTA3:NM_001317783:exon4:c.T324C:p.F108F,TSTA3:NM_003313:exon4:c.T306C:p.F102F 0.33 0.09 0.46 0.23 0.62 0.38 0.5021 0.1575 0.4125 0.2117 0.6339 0.6208 0.5347 0.4016 0.48 0.18 0.63 0.26 0.62 rs1049832 COSM3763093 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5104 0.1515 0.4368 0.5249 0.2149 0.6420 0.6302 0.5480 0.3953 0.4619 0.1764 0.4714 0.5169 0.2283 0.6292 0.6069 0.5521 hom 2262.35 75 8 144697041 . A G 2262.35 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=30.16;VQSLOD=8.7384;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2295,184,0 8 144732363 144732363 T C exonic ZNF623 synonymous SNV ZNF623:NM_014789:exon1:c.T321C:p.N107N,ZNF623:NM_001082480:exon2:c.T201C:p.N67N,ZNF623:NM_001261843:exon2:c.T201C:p.N67N 1. 0.98 1. 1. 1. 1. 0.9983 0.9813 0.9993 1 1 1 1 1 0.99 0.98 1. 1. 1. rs4875017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9987 0.9812 0.9993 1 1 1 1.0000 0.9993 1 0.9952 0.9833 0.9988 1 1 1 0.9999 0.9990 hom 5000.64 159 8 144732363 . T C 5000.64 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5585;MQ=59.55;MQ0=0;QD=31.45;VQSLOD=9.2081;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5000,388,0 8 144732418 144732418 A G exonic ZNF623 nonsynonymous SNV ZNF623:NM_014789:exon1:c.A376G:p.N126D,ZNF623:NM_001082480:exon2:c.A256G:p.N86D,ZNF623:NM_001261843:exon2:c.A256G:p.N86D 1. 0.99 1. 1. 1. 1. 0.9986 0.9848 0.9994 0.9994 1 1 1 1 0.99 0.98 1. 1. 1. rs4874084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9844 0.9994 1 0.9997 1 1.0000 0.9993 1.0000 0.9956 0.9850 0.9988 1 1 1 0.9998 0.9990 hom 5648.78 190 8 144732418 . A G 5648.78 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0295;MQ=59.36;MQ0=0;QD=29.73;VQSLOD=8.5783;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5647,463,0 8 144775871 144775871 C A exonic ZNF707 nonsynonymous SNV ZNF707:NM_001288808:exon4:c.C179A:p.P60H,ZNF707:NM_001288809:exon4:c.C179A:p.P60H,ZNF707:NM_001100599:exon5:c.C287A:p.P96H,ZNF707:NM_001100598:exon6:c.C287A:p.P96H,ZNF707:NM_001288806:exon6:c.C287A:p.P96H,ZNF707:NM_001288807:exon6:c.C68A:p.P23H,ZNF707:NM_173831:exon7:c.C287A:p.P96H,ZNF707:NM_001288805:exon8:c.C287A:p.P96H 0.55 0.5 0.64 0.23 0.84 0.58 0.7280 0.5315 0.5354 0.2703 0.7831 0.8577 0.7749 0.6514 0.76 0.54 0.86 0.52 . rs6987308 COSM5983079 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.26 0.179 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.08 0.083 N 5.77 0.252 T 0.64 0.100 N 0.142 0.310 -0.982 0.345 T 0.000 0.000 T . . . -1.326 0.021 0.004 0.424 0.031 0.002 0.012 N c -2.361 -2.451 1.000 0.500 0.707 0.730 0 -2.73 0.056 -3.549 0.005 -2.448 0.003 0.000 0.063 0.001 0.043 0.882 0.011 . ENSG00000147813.11|ENSG00000255050.1|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000147813.11|ENSG00000255050.1|ENSG00000181097.5|ENSG00000183309.7|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000147813.11|ENSG00000255050.1|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181135.11|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000147813.11|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181097.5|ENSG00000147813.11|ENSG00000255050.1|ENSG00000181097.5|ENSG00000181097.5|ENSG00000181135.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.7148 0.5168 0.5547 0.8433 0.2487 0.7807 0.8611 0.7710 0.6292 0.7170 0.5433 0.6265 0.8278 0.2553 0.7790 0.8528 0.7725 hom 1353.85 42 8 144775871 . C A 1353.85 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.23;VQSLOD=13.6215;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1387,108,0 8 144776109 144776109 A G exonic ZNF707 synonymous SNV ZNF707:NM_001288808:exon4:c.A417G:p.S139S,ZNF707:NM_001288809:exon4:c.A417G:p.S139S,ZNF707:NM_001100599:exon5:c.A525G:p.S175S,ZNF707:NM_001100598:exon6:c.A525G:p.S175S,ZNF707:NM_001288806:exon6:c.A525G:p.S175S,ZNF707:NM_001288807:exon6:c.A306G:p.S102S,ZNF707:NM_173831:exon7:c.A525G:p.S175S,ZNF707:NM_001288805:exon8:c.A525G:p.S175S 0.99 0.97 1. 1. 1. 1. 0.9981 0.9760 0.9994 1 1 0.9999 0.9973 0.9999 0.99 0.98 1. 0.99 . rs11786757 COSM1455376 23(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9748 0.9987 0.9999 1 1 0.9999 0.9994 0.9999 0.9933 0.9769 0.9976 1 1 1 0.9999 0.9980 hom 416.36 14 8 144776109 . A G 416.36 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=29.74;VQSLOD=8.0381;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:42.08:449,42,0 8 144800420 144800420 C T exonic MAPK15 synonymous SNV MAPK15:NM_139021:exon4:c.C234T:p.D78D 0.016 0.0038 0.013 0.001 0.051 0.013 0.0392 0.0091 0.0168 0 0.0393 0.0569 0.0388 0.0229 0.038 0.0093 0.053 0.022 0.074 rs56186625 COSM5830833;COSM5830832;COSM3763094 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0387 0.0081 0.0182 0.0548 0.0002 0.0467 0.0567 0.0396 0.0211 0.0352 0.0103 0.0191 0.0430 0 0.0533 0.0491 0.0499 het 1775.57 130 8 144800420 . C T 1775.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.737;DP=130;Dels=0.00;FS=0.660;HRun=0;HaplotypeScore=1.6643;MQ=58.60;MQ0=0;MQRankSum=2.274;QD=13.66;ReadPosRankSum=-0.254;VQSLOD=5.3416;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,73:130:99:1806,0,1501 8 144801243 144801243 C T exonic MAPK15 synonymous SNV MAPK15:NM_139021:exon6:c.C498T:p.P166P 0.47 0.088 0.57 0.47 0.73 0.65 0.6563 0.2201 0.6253 0.5260 0.7012 0.7159 0.6364 0.6860 0.53 0.21 0.7 0.043 0.54 rs12678428 COSM5038059;COSM4006867 1(urinary_tract);1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6212 0.1700 0.5884 0.5672 0.4568 0.6401 0.7030 0.6128 0.6699 0.5265 0.1893 0.5887 0.55 0.4585 0.6320 0.6961 0.6145 het 291.63 18 8 144801243 . C T 291.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.821;DP=18;Dels=0.00;FS=9.294;HRun=0;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;MQRankSum=0.222;QD=16.20;ReadPosRankSum=1.821;VQSLOD=4.1668;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,10:18:99:322,0,201 8 144808747 144808747 G A exonic FAM83H synonymous SNV FAM83H:NM_198488:exon5:c.C2884T:p.L962L 0.53 0.22 0.66 0.45 0.8 0.67 0.6815 0.2926 0.6267 0.4319 0.7458 0.7626 0.6855 0.6965 0.65 0.36 0.78 0.42 0.77 rs11136321 COSM3763095 5(large_intestine) Benign not_specified RCV000247932.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6778 0.2715 0.6430 0.7011 0.4322 0.7281 0.7681 0.6954 0.6918 0.6042 0.2906 0.6651 0.6921 0.4401 0.7213 0.7668 0.6773 het 625.77 40 8 144808747 . G A 625.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.894;DP=40;Dels=0.00;FS=7.702;HRun=1;HaplotypeScore=1.9970;MQ=58.59;MQ0=0;MQRankSum=0.271;QD=15.64;ReadPosRankSum=0.325;VQSLOD=4.5363;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,21:40:99:656,0,467 8 144811338 144811338 C G exonic FAM83H nonsynonymous SNV FAM83H:NM_198488:exon3:c.G603C:p.Q201H 1. 0.99 1. 1. 1. 1. 0.9992 0.9961 0.9999 1 0.9986 0.9992 1 1 1. 1. 1. 1. 1. rs9969600 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.011 0.298 N 1.000 0.203 P 1.935 0.520 L 2.72 0.120 T 1.14 0.012 N 0.028 0.226 -0.900 0.480 T 0.000 0.000 T . . . 0.880 0.178 9.947 0.834 0.142 0.131 0.175 N c -0.747 -0.626 1.000 0.414 0.660 0.495 0 2.28 0.275 -0.096 0.109 -1.269 0.014 0.542 0.270 0.964 0.448 7.129 0.245 . . . 0.9992 0.9957 0.9998 1 1 0.9991 0.9991 0.9996 1 0.9981 0.9956 0.9976 1 1 0.9994 0.9989 0.9980 hom 6940.09 220 8 144811338 . C G 6940.09 Mask AC=2;AF=1.00;AN=2;DP=220;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.22;MQ0=0;QD=31.55;VQSLOD=8.7607;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:6939,536,0 8 144885580 144885580 A G exonic SCRIB synonymous SNV SCRIB:NM_015356:exon24:c.T3576C:p.F1192F,SCRIB:NM_182706:exon24:c.T3576C:p.F1192F 0.93 0.89 0.94 0.98 0.91 0.97 0.9270 0.8957 0.9685 0.9743 0.8817 0.9130 0.9292 0.9541 0.91 0.9 0.91 0.42 0.81 rs13281371 COSM3763100;COSM3763101 1(thyroid);6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9287 0.8910 0.9635 0.9414 0.9750 0.8835 0.9106 0.9269 0.9536 0.9059 0.8925 0.9535 0.9536 0.9790 0.8872 0.9072 0.8937 hom 543.91 21 8 144885580 . A G 543.91 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.77;MQ0=0;QD=25.90;VQSLOD=6.3786;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,19:21:51.13:577,51,0 8 144889172 144889172 A G exonic SCRIB synonymous SNV SCRIB:NM_015356:exon17:c.T2190C:p.T730T,SCRIB:NM_182706:exon17:c.T2190C:p.T730T 0.88 0.72 0.93 0.98 0.9 0.97 0.9096 0.7492 0.9601 0.9742 0.8812 0.9086 0.9076 0.9528 0.86 0.76 0.91 0.8 0.82 rs10866915 COSM1489084;COSM454165 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9137 0.7407 0.9540 0.9347 0.9750 0.8855 0.9083 0.9116 0.9527 0.8628 0.7467 0.9308 0.9404 0.9784 0.8872 0.9050 0.8893 hom 1091.94 36 8 144889172 . A G 1091.94 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.33;VQSLOD=13.7157;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:84.27:1125,84,0 8 144893084 144893084 G A exonic SCRIB nonsynonymous SNV SCRIB:NM_015356:exon11:c.C1265T:p.P422L,SCRIB:NM_182706:exon11:c.C1265T:p.P422L 0.53 0.47 0.67 0.35 0.63 0.62 0.5984 0.4795 0.7044 0.3531 0.5793 0.6288 0.5986 0.6101 0.58 0.48 0.63 0.49 0.53 rs6558394 COSM3763102;COSM3763103 2(pancreas);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.133 0.306 T 0.983 0.585 D 0.782 0.583 P . . . 0.000 0.489 P 0.66 0.163 N -1.07 0.770 T -2.87 0.623 D 0.079 0.123 -0.904 0.476 T 0.000 0.000 T . . . 4.476 0.599 24.2 0.998 0.927 0.981 0.794 D c 0.131 0.087 1.000 0.747 0.707 0.730 0 4.21 0.488 7.589 0.818 0.953 0.551 1.000 0.715 0.313 0.239 15.888 0.790 Leucine-rich repeat domain\x2c L domain-like ENSG00000180921.6|ENSG00000214733.4 Brain_Cerebellum|Spleen 0.5987 0.4605 0.7029 0.6132 0.3459 0.5621 0.6286 0.6136 0.6042 0.5521 0.4611 0.6826 0.6026 0.3674 0.5539 0.6142 0.5823 het 657.56 52 8 144893084 . G A 657.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DP=52;Dels=0.00;FS=2.371;HRun=0;HaplotypeScore=1.5774;MQ=60.00;MQ0=0;MQRankSum=-0.895;QD=12.65;ReadPosRankSum=0.612;VQSLOD=6.3408;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,26:52:99:688,0,666 8 144894496 144894496 G A exonic SCRIB synonymous SNV SCRIB:NM_015356:exon9:c.C846T:p.T282T,SCRIB:NM_182706:exon9:c.C846T:p.T282T 0.9 0.8 0.93 0.98 0.9 0.97 0.9135 0.8047 0.9606 0.9746 0.8789 0.9080 0.9106 0.9529 0.88 0.81 0.91 0.89 0.91 rs4875060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9174 0.7990 0.9562 0.9358 0.9750 0.8855 0.9082 0.9147 0.9527 0.8800 0.8061 0.9390 0.9437 0.9784 0.8875 0.9050 0.8926 hom 5538.75 160 8 144894496 . G A 5538.75 Mask AC=2;AF=1.00;AN=2;DP=160;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9579;MQ=58.86;MQ0=0;QD=34.62;VQSLOD=4.7840;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5538,433,0 8 144941181 144941181 G C exonic EPPK1 nonsynonymous SNV EPPK1:NM_031308:exon2:c.C6241G:p.L2081V 0.29 0.23 0.3 0.27 0.26 0.41 0.2693 0.2332 0.2679 0.2744 0.1523 0.2519 0.2556 0.4059 0.24 0.22 0.26 0.22 . rs7839934 COSM3982422 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . . . . . . . 0.029 0.010 -1.037 0.182 T 0.000 0.000 T . . . -1.828 0.010 0.002 0.463 0.036 0.019 0.058 N c -1.990 -2.025 1.000 0.441 0.718 0.821 0 -1.77 0.075 -0.897 0.042 -4.606 0.000 0.000 0.063 0.000 0.016 5.516 0.161 . . . 0.2703 0.2340 0.2738 0.3587 0.2762 0.1495 0.2516 0.2821 0.4060 0.2302 0.2411 0.2811 0.3113 0.2741 0.1433 0.2342 0.2424 het 1754.20 141 8 144941181 . G C 1754.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.520;DP=141;Dels=0.00;FS=1.538;HRun=2;HaplotypeScore=6.9485;MQ=59.87;MQ0=0;MQRankSum=0.281;QD=12.44;ReadPosRankSum=-1.466;VQSLOD=4.0120;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,63:141:99:1784,0,2394 8 144941419 144941419 C T exonic EPPK1 synonymous SNV EPPK1:NM_031308:exon2:c.G6003A:p.A2001A 0.21 0.011 0.33 0.14 0.37 0.31 0.3379 0.0676 0.3210 0.1402 0.3834 0.4017 0.3664 0.3377 0.29 0.086 0.4 0.2 . rs12681478 COSM454169 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3464 0.0682 0.3301 0.3849 0.1493 0.3864 0.4060 0.3541 0.3451 0.2895 0.0788 0.3325 0.3742 0.1364 0.3777 0.3992 0.3699 het 850.62 52 8 144941419 . C T 850.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.505;DP=52;Dels=0.00;FS=2.487;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=0.047;QD=16.36;ReadPosRankSum=0.630;VQSLOD=6.0882;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,32:52:99:881,0,485 8 144942903 144942903 T C exonic EPPK1 nonsynonymous SNV EPPK1:NM_031308:exon2:c.A4519G:p.T1507A 0.69 0.78 0.73 0.39 0.75 0.77 0.7511 0.7663 0.7125 0.4557 0.7514 0.7655 0.7533 0.7985 0.77 0.77 0.77 0.49 . rs6558399 COSM3763104 1(oesophagus);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . . . . . . . 0.027 0.009 -0.958 0.396 T 0.000 0.000 T . . . -2.864 0.002 0.001 0.467 0.037 0.028 0.075 N c -1.483 -1.538 0.994 0.332 0.696 0.567 0 -1.92 0.072 -0.046 0.118 -1.087 0.019 0.000 0.063 0.002 0.062 11.869 0.516 . . . 0.7201 0.7594 0.6800 0.7510 0.3781 0.7177 0.7545 0.7435 0.7975 0.7264 0.7737 0.7184 0.7417 0.3831 0.7103 0.7397 0.7255 het 327.82 14 8 144942903 . T C 327.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.668;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.27;MQ0=0;MQRankSum=0.935;QD=23.42;ReadPosRankSum=1.470;VQSLOD=6.9809;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:1,12:14:1.89:358,3,0 8 144944161 144944161 C T exonic EPPK1 synonymous SNV EPPK1:NM_031308:exon2:c.G3261A:p.P1087P 0.29 0.025 0.45 0.24 0.47 0.42 0.4311 0.0903 0.4387 0.2412 0.4267 0.4909 0.4722 0.4718 0.35 0.094 0.48 0.16 . rs35221054 COSM4162763 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4277 0.0757 0.4353 0.6368 0.2335 0.4196 0.4776 0.4671 0.4569 0.3440 0.0915 0.4543 0.6159 0.2317 0.4203 0.4690 0.4252 het 244.88 22 8 144944161 . C T 244.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.429;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9013;MQ=57.87;MQ0=0;MQRankSum=0.363;QD=11.13;ReadPosRankSum=-0.231;VQSLOD=5.0792;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,10:22:99:275,0,367 8 144944176 144944176 T C exonic EPPK1 synonymous SNV EPPK1:NM_031308:exon2:c.A3246G:p.E1082E 0.53 0.48 0.68 0.28 0.69 0.6 0.6361 0.5475 0.6301 0.2880 0.6465 0.6925 0.6554 0.6405 0.66 0.57 0.7 0.42 . rs12542653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6330 0.5410 0.6330 0.7643 0.2761 0.6415 0.6871 0.6749 0.6316 0.6151 0.5485 0.6779 0.7450 0.2839 0.6395 0.6763 0.6440 hom 763.88 25 8 144944176 . T C 763.88 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9707;MQ=58.13;MQ0=0;QD=30.56;VQSLOD=7.9314;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:66.18:797,66,0 8 144944638 144944638 G A exonic EPPK1 synonymous SNV EPPK1:NM_031308:exon2:c.C2784T:p.G928G 0.11 0.06 0.17 0.041 0.17 0.16 0.1587 0.0931 0.1651 0.0473 0.2213 0.1713 0.1809 0.1722 0.14 0.08 0.16 0.11 . rs56118826 COSM3763105 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1480 0.0802 0.1620 0.0464 0.0408 0.1943 0.1686 0.1545 0.1565 0.1440 0.0932 0.1790 0.0563 0.0482 0.1897 0.1708 0.1789 het 398.58 34 8 144944638 . G A 398.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=0.416;QD=11.72;ReadPosRankSum=-0.307;VQSLOD=6.7548;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,19:34:99:429,0,404 8 144945792 144945792 T C exonic EPPK1 nonsynonymous SNV EPPK1:NM_031308:exon2:c.A1630G:p.K544E 0.56 0.6 0.68 0.28 0.68 0.6 0.6486 0.6409 0.6471 0.3065 0.6534 0.6936 0.6604 0.6384 0.68 0.65 0.7 0.34 . rs13255110 COSM454171 1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . . . . . . . 0.015 0.002 -0.939 0.429 T 0.000 0.000 T . . . -2.530 0.003 0.001 0.118 0.002 0.017 0.053 N c -1.367 -1.388 1.000 0.411 0.646 0.450 0 0.205 0.144 -0.091 0.110 -0.417 0.060 0.000 0.063 0.001 0.043 6.537 0.214 . . . 0.6366 0.6321 0.6400 0.7608 0.2772 0.6318 0.6828 0.6723 0.6283 0.6383 0.6426 0.6794 0.7483 0.2858 0.6244 0.6714 0.6534 hom 944.70 29 8 144945792 . T C 944.70 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;QD=32.58;VQSLOD=8.4919;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:75.24:978,75,0 8 144946345 144946345 G A exonic EPPK1 synonymous SNV EPPK1:NM_031308:exon2:c.C1077T:p.A359A 0.29 0.024 0.44 0.24 0.48 0.41 0.4877 0.1242 0.5053 0.2954 0.4785 0.5488 0.5317 0.4844 0.36 0.096 0.49 0.16 . rs34753358 COSM454173 2(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4277 0.0789 0.4328 0.6624 0.2343 0.4078 0.4916 0.4637 0.4374 0.3501 0.0966 0.4511 0.6589 0.2349 0.4059 0.4807 0.4221 het 96.74 20 8 144946345 . G A 96.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DP=20;Dels=0.00;FS=2.754;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-1.031;QD=4.84;ReadPosRankSum=-1.691;VQSLOD=2.8956;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,6:20:99:127,0,368 8 144946818 144946818 C T exonic EPPK1 nonsynonymous SNV EPPK1:NM_031308:exon2:c.G604A:p.D202N 0.3 0.024 0.46 0.24 0.49 0.41 0.4454 0.0984 0.4447 0.2381 0.4333 0.5150 0.4779 0.4593 0.37 0.1 0.51 0.16 . rs13260439 COSM3763106 2(large_intestine) . . . . . . . . . . . . . . 0.996 0.670 D 0.555 0.475 P . . . 0.201 0.345 P . . . . . . . . . 0.011 0.044 -0.902 0.478 T 0.000 0.000 T . . . 2.614 0.375 20.3 0.998 0.926 0.658 0.326 D c 0.102 0.038 1.000 0.747 0.646 0.450 0 4.14 0.477 0.450 0.213 0.834 0.340 0.046 0.210 0.406 0.255 14.265 0.655 . . . 0.4444 0.0807 0.4468 0.6803 0.2346 0.4382 0.5037 0.4857 0.4497 0.3603 0.0977 0.4606 0.6689 0.2354 0.4333 0.4926 0.4457 het 239.94 26 8 144946818 . C T 239.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.713;DP=26;Dels=0.00;FS=3.741;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.816;QD=9.23;ReadPosRankSum=-1.090;VQSLOD=4.6462;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,11:26:99:270,0,324 8 144996111 144996111 C T exonic PLEC synonymous SNV PLEC:NM_201378:exon32:c.G7836A:p.L2612L,PLEC:NM_201379:exon32:c.G7812A:p.L2604L,PLEC:NM_201380:exon32:c.G8289A:p.L2763L,PLEC:NM_201381:exon32:c.G7782A:p.L2594L,PLEC:NM_201382:exon32:c.G7878A:p.L2626L,PLEC:NM_201383:exon32:c.G7890A:p.L2630L,PLEC:NM_201384:exon32:c.G7878A:p.L2626L,PLEC:NM_000445:exon33:c.G7959A:p.L2653L 0.074 0.012 0.15 0.046 0.063 0.15 0.0815 0.0183 0.1612 0.0238 0.0695 0.0690 0.0653 0.1385 0.045 0.016 0.059 0.011 0.016 rs34803322 COSM3763137;COSM3763140;COSM3763141;COSM3763142;COSM3763138;COSM3763139;COSM4784605 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other not_specified RCV000078895.9 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0822 0.0161 0.1526 0.0601 0.0237 0.0675 0.0654 0.0879 0.1360 0.0588 0.0202 0.1444 0.0662 0.0167 0.0633 0.0785 0.0777 het 273.66 41 8 144996111 . C T 273.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.670;DP=41;Dels=0.00;FS=1.283;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.591;QD=6.67;ReadPosRankSum=0.234;VQSLOD=5.2360;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,14:41:99:304,0,728 8 144997783 144997783 G A exonic PLEC nonsynonymous SNV PLEC:NM_201378:exon31:c.C6272T:p.A2091V,PLEC:NM_201379:exon31:c.C6248T:p.A2083V,PLEC:NM_201380:exon31:c.C6725T:p.A2242V,PLEC:NM_201381:exon31:c.C6218T:p.A2073V,PLEC:NM_201382:exon31:c.C6314T:p.A2105V,PLEC:NM_201383:exon31:c.C6326T:p.A2109V,PLEC:NM_201384:exon31:c.C6314T:p.A2105V,PLEC:NM_000445:exon32:c.C6395T:p.A2132V 0.065 0.0015 0.14 0.044 0.037 0.15 0.0761 0.0080 0.1768 0.0282 0.0520 0.0487 0.0546 0.1503 0.028 0.0088 0.037 0.011 0.0082 rs74772299 COSM1330239;COSM1330240;COSM1330238 1(ovary) other not_specified RCV000078887.11 MedGen CN169374 . . . . . . 0.02 0.512 D 0.229 0.288 B 0.052 0.241 B 0.005 0.329 U 1 0.090 N 2.015 0.552 M -1.09 0.776 T -1.27 0.324 N 0.037 0.112 -1.080 0.073 T 0.007 0.024 T . . . 1.434 0.235 12.97 0.944 0.241 0.171 0.195 N c -0.546 -0.576 1.000 0.517 0.672 0.522 0 2.93 0.329 2.301 0.430 0.938 0.529 0.044 0.210 0.029 0.146 5.834 0.177 . . . 0.0676 0.0068 0.1466 0.0497 0.0233 0.0367 0.0392 0.0692 0.1357 0.0342 0.0103 0.1341 0.06 0.0154 0.0338 0.0432 0.0483 het 131.12 20 8 144997783 . G A 131.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.395;DP=20;Dels=0.00;FS=2.452;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=1.479;QD=6.56;ReadPosRankSum=-0.127;VQSLOD=2.9896;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,8:20:99:161,0,325 8 144998514 144998514 C T exonic PLEC synonymous SNV PLEC:NM_201378:exon31:c.G5541A:p.A1847A,PLEC:NM_201379:exon31:c.G5517A:p.A1839A,PLEC:NM_201380:exon31:c.G5994A:p.A1998A,PLEC:NM_201381:exon31:c.G5487A:p.A1829A,PLEC:NM_201382:exon31:c.G5583A:p.A1861A,PLEC:NM_201383:exon31:c.G5595A:p.A1865A,PLEC:NM_201384:exon31:c.G5583A:p.A1861A,PLEC:NM_000445:exon32:c.G5664A:p.A1888A 0.07 0.011 0.14 0.044 0.036 0.16 0.0692 0.0146 0.1614 0.0255 0.0420 0.0442 0.0496 0.1456 0.028 0.011 0.036 0.011 0.0082 rs75586449 COSM3763155;COSM4784798;COSM3763156;COSM3763154;COSM3763157;COSM3763152;COSM3763153 1(large_intestine) other not_specified RCV000078879.8 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0676 0.0121 0.1482 0.0476 0.0238 0.0344 0.0392 0.0719 0.1393 0.0358 0.0142 0.1360 0.0563 0.0167 0.0339 0.0438 0.0531 het 349 21 8 144998514 . C T 349 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.455;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=-0.858;QD=16.62;ReadPosRankSum=0.336;VQSLOD=6.4045;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,14:21:99:379,0,181 8 145057868 145057868 A G exonic PARP10 nonsynonymous SNV PARP10:NM_001317895:exon7:c.T1925C:p.V642A,PARP10:NM_032789:exon8:c.T1889C:p.V630A 0.59 0.92 0.49 0.2 0.58 0.64 0.5709 0.8819 0.4256 0.1929 0.5690 0.5819 0.5623 0.6234 0.68 0.88 0.58 0.59 0.49 rs11544989 COSM3774328 1(kidney);2(thyroid);1(biliary_tract) . . . . . . . . . . . 0.461 0.102 T 0.0 0.026 B 0.0 0.013 B 0.485 0.050 N 1 0.090 P -0.345 0.033 N 2.94 0.098 T -0.48 0.154 N 0.037 0.022 -1.032 0.197 T 0.000 0.000 T . . . -2.571 0.003 0.001 0.293 0.015 0.008 0.032 N c -2.203 -2.255 1.000 0.747 0.672 0.522 0 -6.93 0.015 -5.262 0.002 -2.232 0.004 0.000 0.063 0.001 0.043 0.563 0.006 . ENSG00000178209.10|ENSG00000178685.9|ENSG00000178209.10|ENSG00000178685.9|ENSG00000178209.10|ENSG00000178209.10|ENSG00000178209.10|ENSG00000178685.9|ENSG00000178685.9|ENSG00000178209.10|ENSG00000178209.10|ENSG00000178685.9|ENSG00000178685.9|ENSG00000178209.10|ENSG00000178685.9|ENSG00000178685.9|ENSG00000178209.10|ENSG00000178209.10|ENSG00000178685.9|ENSG00000179698.9|ENSG00000178209.10|ENSG00000178685.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5435 0.8817 0.4171 0.6004 0.1806 0.5534 0.5681 0.5759 0.6092 0.6330 0.8776 0.5120 0.6026 0.1876 0.5480 0.5690 0.5758 het 284.98 18 8 145057868 . A G 284.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.725;DP=18;Dels=0.00;FS=1.913;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=0.815;QD=15.83;ReadPosRankSum=0.815;VQSLOD=3.9347;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,11:18:99:315,0,137 8 145066886 145066886 A G exonic GRINA synonymous SNV GRINA:NM_000837:exon7:c.A993G:p.L331L,GRINA:NM_001009184:exon7:c.A993G:p.L331L 0.98 1. 1. 0.9 1. 1. 0.9915 0.9999 0.9971 0.8916 1 0.9996 0.9945 0.9987 1. 1. 1. 0.81 1. rs13277282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.9999 0.9970 0.9973 0.8901 1.0000 0.9997 0.9969 0.9985 0.9951 0.9999 0.9976 1 0.9104 0.9997 0.9999 1 hom 1831.93 59 8 145066886 . A G 1831.93 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3294;MQ=58.19;MQ0=0;QD=31.05;VQSLOD=8.8082;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1865,144,0 8 145150832 145150832 A G exonic CYC1 nonsynonymous SNV CYC1:NM_001916:exon2:c.A226G:p.M76V 0.96 0.86 0.99 1. 1. 1. 0.9876 0.8691 0.9923 1 1 0.9993 0.9911 0.9999 0.96 0.87 1. 0.98 0.95 rs7820984 COSM4162831 1(thyroid) . . . . . . . . . . . 0.664 0.046 T 0.0 0.026 B 0.0 0.013 B 0.002 0.382 N 1 0.090 P -1.995 0.002 N 1.72 0.266 T 0.02 0.068 N 0.024 0.089 -1.018 0.244 T 0.000 0.000 T . . . -1.992 0.008 0.001 0.369 0.024 0.023 0.065 N c -1.716 -1.607 1.000 0.747 0.733 0.969 0 2.5 0.292 0.769 0.261 -1.773 0.007 0.439 0.262 0.084 0.183 4.656 0.119 . . . 0.9901 0.8661 0.9931 0.9999 1 1 0.9993 0.9939 0.9998 0.9623 0.8691 0.9869 1 1 1 0.9991 0.9959 hom 3820.81 131 8 145150832 . A G 3820.81 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7959;MQ=59.36;MQ0=0;QD=29.17;VQSLOD=8.1852;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:3820,331,0 8 145160646 145160646 T C exonic MAF1 synonymous SNV MAF1:NM_032272:exon2:c.T60C:p.T20T 0.95 0.83 0.99 1. 1. 1. 0.9849 0.8391 0.9912 0.9999 1 0.9993 0.9901 0.9999 0.95 0.85 1. 0.97 0.98 rs11136256 COSM4162832 1(thyroid) Benign not_specified RCV000455364.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9881 0.8359 0.9917 0.9999 0.9999 1 0.9992 0.9934 0.9998 0.9539 0.8408 0.9857 1 0.9994 0.9997 0.9990 0.9918 hom 3869.11 123 8 145160646 . T C 3869.11 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9980;MQ=59.32;MQ0=0;QD=31.46;VQSLOD=8.9660;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3868,310,0 8 145161823 145161823 G A exonic MAF1 nonsynonymous SNV MAF1:NM_032272:exon7:c.G706A:p.G236R 0.88 0.69 0.94 1. 0.91 0.97 0.9205 0.7237 0.9553 0.9947 0.9396 0.9272 0.9291 0.9685 0.85 0.72 0.92 0.85 0.33 rs11546144 COSM4162833 1(thyroid) . . . . . . . . . . . 0.233 0.465 T 0.0 0.026 B 0.0 0.013 B 0.244 0.156 N 1.000 0.189 P 0.345 0.112 N -1.54 0.817 D -0.73 0.270 N 0.038 0.058 -0.984 0.340 T 0.000 0.000 T . . . 2.867 0.405 21.7 0.857 0.155 0.337 0.247 N c -1.192 -1.165 1.000 0.441 0.707 0.730 0 0.43 0.157 0.158 0.161 -0.954 0.024 0.000 0.063 0.000 0.016 6.749 0.225 . ENSG00000179698.9|ENSG00000179698.9|ENSG00000179698.9|ENSG00000179698.9|ENSG00000179698.9|ENSG00000179698.9|ENSG00000179698.9|ENSG00000179698.9|ENSG00000197858.6|ENSG00000179698.9|ENSG00000179698.9|ENSG00000197858.6|ENSG00000179698.9|ENSG00000179698.9|ENSG00000179698.9|ENSG00000255224.1|ENSG00000179698.9|ENSG00000178896.6|ENSG00000197858.6|ENSG00000179632.5|ENSG00000179698.9|ENSG00000197858.6|ENSG00000179632.5|ENSG00000179698.9|ENSG00000179698.9|ENSG00000179698.9|ENSG00000179698.9|ENSG00000197858.6|ENSG00000179632.5|ENSG00000179698.9|ENSG00000179632.5|ENSG00000179698.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood 0.918 0.7049 0.9454 0.9233 0.9946 0.9271 0.9196 0.9211 0.9657 0.8696 0.7075 0.9200 0.9503 0.9957 0.9253 0.9293 0.9246 hom 519.08 19 8 145161823 . G A 519.08 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.32;VQSLOD=13.5831;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:42.13:552,42,0 8 145223288 145223288 C T exonic MROH1 nonsynonymous SNV MROH1:NM_001099281:exon3:c.C113T:p.A38V,MROH1:NM_001288814:exon3:c.C113T:p.A38V,MROH1:NM_001099280:exon4:c.C113T:p.A38V,MROH1:NM_032450:exon4:c.C113T:p.A38V 0.81 0.3 0.94 1. 1. 1. 0.9464 0.3900 0.9705 0.9999 1 0.9969 0.9774 0.9993 0.81 0.45 1. 0.75 . rs34819224 COSM4162841;COSM4162840 1(thyroid) . . . . . . . . . . . 0.254 0.169 T 0.001 0.102 B 0.002 0.093 B 0.677 0.103 N 1 0.090 P 1.245 0.315 L -0.17 0.656 T -0.59 0.176 N 0.057 0.051 -0.960 0.392 T 0.000 0.000 T . . . 0.505 0.142 7.471 0.886 0.175 0.027 0.072 N c -1.256 -1.274 0.008 0.116 0.707 0.730 0 1.35 0.210 0.050 0.139 -1.017 0.021 0.000 0.063 0.001 0.043 11.546 0.498 Armadillo-like helical|Armadillo-type fold ENSG00000255085.4|ENSG00000203499.6 Cells_Transformed_fibroblasts|Thyroid 0.9544 0.3805 0.9675 0.9898 0.9999 1.0000 0.9973 0.9681 0.9989 0.8311 0.4103 0.9594 0.9868 1 1 0.9978 0.9724 hom 1513.65 53 8 145223288 . C T 1513.65 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8237;MQ=58.60;MQ0=0;QD=28.56;VQSLOD=7.7659;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1547,138,0 8 145639726 145639726 T C exonic SLC39A4 nonsynonymous SNV SLC39A4:NM_017767:exon5:c.A994G:p.T332A,SLC39A4:NM_130849:exon6:c.A1069G:p.T357A 0.39 0.071 0.47 0.49 0.57 0.5 0.5491 0.1511 0.5321 0.5358 0.6437 0.6099 0.5802 0.4911 0.43 0.15 0.58 0.41 0.39 rs2272662 COSM1132811;COSM1755634 1(urinary_tract);1(pancreas);2(prostate);1(upper_aerodigestive_tract) Benign|Benign Hereditary_acrodermatitis_enteropathica|not_specified RCV000305246.1|RCV000454515.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0221036:201100:ORPHA37:37702000|CN169374 . . . . . . 0.281 0.183 T 0.012 0.259 B 0.011 0.282 B 0.173 0.173 N 0.998 0.224 P 0.84 0.212 L 0.88 0.460 T -0.73 0.206 N 0.047 0.056 -0.943 0.422 T 0.000 0.000 T . . . -0.454 0.058 0.285 0.743 0.103 0.306 0.239 N c -0.754 -0.752 1.000 0.467 0.403 0.052 0 -0.978 0.097 1.923 0.395 -0.350 0.070 0.954 0.330 0.097 0.188 3.810 0.082 . ENSG00000160949.12|ENSG00000160949.12 Adrenal_Gland|Skin_Sun_Exposed_Lower_leg 0.5204 0.1193 0.4585 0.5928 0.5129 0.6007 0.5808 0.5426 0.4676 0.4557 0.1379 0.4964 0.5767 0.5260 0.6115 0.5862 0.5460 het 88.05 11 8 145639726 . T C 88.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.450;DP=11;Dels=0.00;FS=2.808;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-1.098;QD=8.00;ReadPosRankSum=0.336;VQSLOD=5.2229;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,5:11:99:118,0,130 8 145640411 145640411 A G exonic SLC39A4 nonsynonymous SNV SLC39A4:NM_017767:exon3:c.T676C:p.W226R,SLC39A4:NM_130849:exon4:c.T751C:p.W251R 0.98 0.99 0.98 1. 0.95 1. 0.9678 0.9933 0.9868 0.9997 0.9482 0.9536 0.9754 0.9862 0.97 0.99 0.95 0.9 0.89 rs2977838 . . Benign not_specified RCV000455209.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9674 0.9923 0.9852 0.9926 0.9996 0.9487 0.9500 0.9709 0.9846 0.9644 0.9919 0.9857 0.9934 1 0.9471 0.9471 0.9601 het 1137.87 86 8 145640411 . A G 1137.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.238;DP=86;Dels=0.00;FS=6.948;HRun=1;HaplotypeScore=3.3636;MQ=59.30;MQ0=0;MQRankSum=-1.387;QD=13.23;ReadPosRankSum=0.739;VQSLOD=3.6899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,42:86:99:1168,0,1286 8 145641564 145641564 T G exonic SLC39A4 nonsynonymous SNV SLC39A4:NM_017767:exon1:c.A29C:p.E10A 0.43 0.46 0.41 0.38 0.53 0.38 0.5157 0.4817 0.4476 0.4045 0.5750 0.5588 0.5204 0.4398 0.51 0.47 0.53 0.46 0.42 rs2280839 COSM4162853 1(pancreas);1(thyroid) . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . 0.09 0.615 T -0.18 0.098 N 0.023 0.059 -0.926 0.447 T 0.000 0.000 T . . . 0.299 0.123 5.683 0.950 0.253 0.029 0.076 N c -1.284 -1.362 1.000 0.446 0.554 0.283 0 -3.1 0.050 -0.005 0.127 -0.071 0.120 0.004 0.165 0.004 0.083 5.3 0.150 . ENSG00000071894.10|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000147804.5|ENSG00000160949.12|ENSG00000147804.5|ENSG00000185803.4|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000147804.5|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160948.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4764 0.4593 0.3890 0.6047 0.3687 0.5110 0.5241 0.5067 0.4144 0.4990 0.4692 0.4087 0.5845 0.3717 0.5184 0.5294 0.4938 het 192.97 15 8 145641564 . T G 192.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.027;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.45;MQ0=0;MQRankSum=1.406;QD=12.86;ReadPosRankSum=-0.780;VQSLOD=6.5617;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,7:15:99:223,0,137 8 145642002 145642002 C T exonic SLC39A4 nonsynonymous SNV SLC39A4:NM_130849:exon1:c.G172A:p.A58T 0.43 0.42 0.42 0.37 0.56 0.4 0.5757 0.4881 0.5190 0.4549 0.6372 0.6259 0.5696 0.5044 0.52 0.43 0.57 0.42 0.3 rs2280838 COSM3763200 2(large_intestine) Benign|Benign Hereditary_acrodermatitis_enteropathica|not_specified RCV000330943.1|RCV000454589.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0221036:201100:ORPHA37:37702000|CN169374 . . . . . . 0.976 0.075 T 0.0 0.026 B 0.0 0.013 B 0.100 0.025 N 1 0.090 P 0.9 0.233 L 0.32 0.585 T 0.24 0.063 N 0.02 0.445 -1.026 0.217 T 0.000 0.000 T . . . 0.573 0.149 7.970 0.945 0.244 0.104 0.157 N c -1.710 -1.762 1.000 0.747 0.701 0.575 0 -9.42 0.005 -3.198 0.006 -1.955 0.005 0.000 0.063 0.341 0.244 5.707 0.171 . ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000232600.2|ENSG00000147804.5|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160948.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Brain_Cerebellum|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5064 0.4262 0.3989 0.6324 0.3633 0.5564 0.5653 0.5230 0.4648 0.5183 0.4410 0.4236 0.6333 0.3662 0.5602 0.5724 0.5297 het 188.83 14 8 145642002 . C T 188.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.225;DP=14;Dels=0.00;FS=5.756;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.627;QD=13.49;ReadPosRankSum=0.627;VQSLOD=5.7649;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,8:14:99:219,0,174 8 145661675 145661675 G A exonic TONSL nonsynonymous SNV TONSL:NM_013432:exon17:c.C2141T:p.A714V 0.44 0.32 0.43 0.42 0.47 0.61 0.4603 0.3496 0.4272 0.4183 0.4831 0.4656 0.4833 0.5889 0.42 0.35 0.46 0.37 0.36 rs7830832 COSM3750121;COSM3750120 1(pancreas);5(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.075 0.344 T 0.011 0.147 B 0.011 0.145 B 0.486 0.121 N 1 0.090 P 2.48 0.723 M 0.8 0.488 T -1.06 0.277 N 0.032 0.012 -0.927 0.445 T 0.000 0.000 T . . . 1.588 0.252 13.79 0.999 0.949 0.103 0.157 N c -0.771 -0.761 0.999 0.376 0.672 0.522 0 2.85 0.322 0.245 0.178 -0.487 0.053 0.002 0.151 0.021 0.135 7.113 0.244 . ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000232600.2|ENSG00000147804.5|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160948.9 Adipose_Subcutaneous|Adrenal_Gland|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4560 0.3413 0.4210 0.3301 0.4165 0.4753 0.4689 0.4566 0.5889 0.4285 0.3384 0.4306 0.3576 0.4419 0.4762 0.4664 0.4804 het 503.59 39 8 145661675 . G A 503.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.676;DP=39;Dels=0.00;FS=3.274;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=1.119;QD=12.91;ReadPosRankSum=0.524;VQSLOD=6.3839;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,22:39:99:534,0,447 8 145665407 145665407 C T exonic TONSL nonsynonymous SNV TONSL:NM_013432:exon11:c.G1477A:p.G493S 0.48 0.59 0.47 0.38 0.53 0.39 0.5058 0.5840 0.4512 0.3734 0.5228 0.5416 0.5093 0.4189 0.55 0.58 0.53 0.51 0.41 rs2229315 COSM1755636;COSM1755637 2(urinary_tract);2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.378 N 1.000 0.090 P -1.655 0.004 N 1.21 0.372 T 2.33 0.003 N 0.065 0.051 -0.934 0.435 T 0.000 0.000 T . . . 1.529 0.246 13.47 0.742 0.102 0.114 0.164 N c -0.828 -0.576 1.000 0.462 0.672 0.522 0 5.51 0.817 0.812 0.267 0.090 0.195 0.172 0.237 0.203 0.218 9.775 0.396 . ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000147804.5|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160948.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5038 0.5802 0.4644 0.6651 0.3718 0.5180 0.5304 0.5291 0.4232 0.5353 0.5845 0.4857 0.625 0.3714 0.5195 0.5309 0.5082 het 502.15 52 8 145665407 . C T 502.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.690;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.037;QD=9.66;ReadPosRankSum=0.448;VQSLOD=11.6470;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,21:52:99:532,0,875 8 145665516 145665516 T C exonic TONSL synonymous SNV TONSL:NM_013432:exon11:c.A1368G:p.L456L 0.91 0.88 0.91 0.81 0.99 1. 0.9612 0.8915 0.8782 0.7888 0.9973 0.9962 0.9785 0.9976 0.96 0.9 1. 0.89 0.89 rs2306383 COSM3982426;COSM3982427 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9587 0.8918 0.8809 0.9883 0.7870 0.9963 0.9970 0.9689 0.9975 0.9553 0.8951 0.9153 0.9934 0.8123 0.9943 0.9963 0.9827 hom 3779.83 116 8 145665516 . T C 3779.83 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6822;MQ=58.88;MQ0=0;QD=32.58;VQSLOD=8.9253;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3780,289,0 8 145665761 145665761 G A exonic TONSL synonymous SNV TONSL:NM_013432:exon10:c.C1263T:p.A421A 0.43 0.33 0.5 0.37 0.6 0.39 0.5197 0.3347 0.4780 0.3566 0.5161 0.5984 0.5241 0.4346 0.51 0.34 0.6 0.41 0.48 rs2229313 COSM4162855;COSM4162854 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 0.271 0.120 5.406 0.685 0.084 0.590 0.305 D n 0.974 0.218 0.989 0.317 0.672 0.522 0 -1.95 0.071 -0.269 0.086 0.998 0.613 0.693 0.283 0.989 0.536 2.708 0.048 . ENSG00000071894.10|ENSG00000160949.12|ENSG00000071894.10|ENSG00000071894.10|ENSG00000160949.12|ENSG00000071894.10|ENSG00000071894.10|ENSG00000147804.5|ENSG00000071894.10|ENSG00000160949.12|ENSG00000185803.4|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000071894.10|ENSG00000071894.10|ENSG00000071894.10|ENSG00000160949.12|ENSG00000071894.10|ENSG00000071894.10|ENSG00000160949.12|ENSG00000071894.10|ENSG00000071894.10|ENSG00000071894.10|ENSG00000071894.10|ENSG00000071894.10|ENSG00000160949.12|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160949.12|ENSG00000071894.10|ENSG00000071894.10|ENSG00000147804.5|ENSG00000071894.10|ENSG00000071894.10|ENSG00000160949.12|ENSG00000160948.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.5208 0.3272 0.4914 0.6811 0.3559 0.5158 0.5931 0.5632 0.4288 0.4972 0.3505 0.5167 0.6722 0.3516 0.5229 0.5857 0.5277 het 718.37 60 8 145665761 . G A 718.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.198;DP=60;Dels=0.00;FS=5.001;HRun=0;HaplotypeScore=2.7220;MQ=60.00;MQ0=0;MQRankSum=-0.355;QD=11.97;ReadPosRankSum=0.680;VQSLOD=5.4694;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,29:60:99:748,0,858 8 145689915 145689915 G A exonic CYHR1 synonymous SNV CYHR1:NM_138496:exon2:c.C174T:p.H58H,CYHR1:NM_001129888:exon3:c.C174T:p.H58H,CYHR1:NM_032687:exon3:c.C174T:p.H58H 0.91 0.87 0.92 0.81 1. 1. 0.9638 0.8988 0.8937 0.7921 0.9974 0.9966 0.9755 0.9977 0.97 0.91 1. 0.87 0.88 rs2721167 COSM4162858;COSM4162859 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9619 0.8988 0.8974 0.9630 0.7937 0.9970 0.9987 0.9753 0.9978 0.9572 0.8998 0.9189 0.9669 0.8004 0.9960 0.9987 0.9827 hom 2601.26 84 8 145689915 . G A 2601.26 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=30.97;VQSLOD=9.0549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2634,208,0 8 145692385 145692385 C T exonic KIFC2 synonymous SNV KIFC2:NM_145754:exon3:c.C222T:p.G74G 0.91 0.87 0.92 0.81 1. 1. 0.9649 0.9051 0.8938 0.7935 0.9979 0.9968 0.9753 0.9978 0.97 0.93 1. 0.64 0.8 rs2250891 COSM3750122 9(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9600 0.9004 0.8976 0.9629 0.7926 0.9971 0.9988 0.9746 0.9978 0.9571 0.9000 0.9189 0.9669 0.7988 0.9960 0.9987 0.9826 hom 439.04 16 8 145692385 . C T 439.04 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.44;VQSLOD=13.0692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:42.11:472,42,0 8 145693720 145693720 A G exonic KIFC2 synonymous SNV KIFC2:NM_145754:exon8:c.A819G:p.A273A 0.95 1. 0.93 0.81 1. 1. 0.9738 0.9981 0.8971 0.7895 0.9973 0.9990 0.9855 0.9981 1. 1. 1. 0.79 0.92 rs2250657 COSM4162860 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9707 0.9985 0.9022 1 0.7938 0.9970 0.9994 0.9825 0.9983 0.9853 0.9971 0.9272 1 0.8004 0.9960 0.9988 0.9867 hom 437.82 17 8 145693720 . A G 437.82 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=25.75;VQSLOD=7.4209;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.11:471,39,0 8 145737636 145737636 A G exonic RECQL4 synonymous SNV RECQL4:NM_004260:exon19:c.T3127C:p.L1043L 0.95 0.99 0.93 0.8 1. 1. 0.9728 0.9942 0.8977 0.7806 0.9973 0.9991 0.9828 0.9984 1. 1. 1. 0.9 . rs4925828 COSN9974953 1(thyroid) Benign\x2cBenign Baller-Gerold_syndrome\x2cnot_specified RCV000228280.2\x2cRCV000153817.2 MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen C0265308:218600:ORPHA1225:77608001\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9701 0.9947 0.9029 1 0.7845 0.9969 0.9994 0.9802 0.9984 0.9838 0.9944 0.9224 1 0.7879 0.9960 0.9989 0.9878 hom 2478.62 80 8 145737636 . A G 2478.62 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=30.98;VQSLOD=9.1683;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2512,196,0 8 145742514 145742514 A G exonic RECQL4 nonsynonymous SNV RECQL4:NM_004260:exon4:c.T274C:p.S92P 0.94 0.98 0.92 0.81 1. 1. 0.9733 0.9799 0.8983 0.8026 0.9972 0.9991 0.9837 0.9984 1. 0.99 1. 0.9 . rs2721190 COSN9974954 1(thyroid) Benign\x2cBenign Baller-Gerold_syndrome\x2cnot_specified RCV000229915.2\x2cRCV000121962.3 MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen C0265308:218600:ORPHA1225:77608001\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.043 0.023 . . . . . . . . . -1.106 0.028 0.010 0.453 0.035 0.001 0.008 N n 1.318 4.874 1.000 0.747 0.207 0.033 0 1.99 0.253 0.157 0.161 -0.881 0.027 0.000 0.063 0.000 0.016 5.147 0.142 . . . 0.9702 0.9820 0.9015 1 0.8021 0.9968 0.9994 0.9804 0.9984 0.9815 0.9837 0.9224 1 0.8006 0.9960 0.999 0.9857 hom 967.60 27 8 145742514 . A G 967.60 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5592;MQ=60.00;MQ0=0;QD=35.84;VQSLOD=8.1708;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:78.25:1001,78,0 8 145745182 145745182 T C exonic LRRC14 synonymous SNV LRRC14:NM_014665:exon2:c.T73C:p.L25L,LRRC14:NM_001272036:exon3:c.T73C:p.L25L 0.95 1. 0.93 0.8 1. 1. 0.9740 0.9976 0.8968 0.7908 0.9973 0.9992 0.9831 0.9984 1. 1. 1. 0.85 1. rs2721172 COSM4162865 1(thyroid) Benign not_specified RCV000454454.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9709 0.9978 0.9015 1 0.7946 0.9969 0.9995 0.9808 0.9984 0.9849 0.9967 0.9236 1 0.7938 0.9960 0.9992 0.9867 hom 4304.48 127 8 145745182 . T C 4304.48 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.7623;MQ=59.64;MQ0=0;QD=33.89;VQSLOD=8.8103;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4304,334,0 8 145756170 145756170 G A exonic ARHGAP39 synonymous SNV ARHGAP39:NM_001308208:exon10:c.C2973T:p.D991D,ARHGAP39:NM_025251:exon10:c.C3066T:p.D1022D,ARHGAP39:NM_001308207:exon11:c.C2973T:p.D991D 0.39 0.31 0.42 0.28 0.6 0.36 0.5064 0.3541 0.3376 0.3117 0.5800 0.5976 0.5198 0.4192 0.51 0.35 0.59 0.098 0.52 rs873884 COSM3763204 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4857 0.3231 0.3377 0.5101 0.2967 0.5401 0.5906 0.5314 0.4050 0.4862 0.3318 0.3573 0.5695 0.2900 0.5413 0.5867 0.5357 hom 866.73 29 8 145756170 . G A 866.73 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=29.89;VQSLOD=8.7268;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:72.22:900,72,0 8 145770922 145770922 G A exonic ARHGAP39 synonymous SNV ARHGAP39:NM_025251:exon5:c.C2232T:p.C744C,ARHGAP39:NM_001308208:exon6:c.C2232T:p.C744C,ARHGAP39:NM_001308207:exon7:c.C2232T:p.C744C . . . . . . 0.0003 9.699e-05 8.664e-05 0.0019 0 0.0002 0 0 0.0002 . 0.0003 . . rs144121067 COSM4662916 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 6.543e-05 0.0001 0 0.0019 0 0.0003 0 0 0.0002 0 0 0 0.0006 0 0.0003 0 het 1361.53 96 8 145770922 . G A 1361.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.929;DP=96;Dels=0.00;FS=1.703;HRun=0;HaplotypeScore=9.8973;MQ=59.15;MQ0=0;MQRankSum=-0.153;QD=14.18;ReadPosRankSum=-0.153;VQSLOD=2.6356;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:44,51:96:99:1392,0,978 8 145979138 145979138 C T exonic ZNF251 synonymous SNV ZNF251:NM_138367:exon4:c.G207A:p.Q69Q 0.031 0.003 0.042 0.001 0.083 0.037 0.1139 0.0179 0.0778 0.0003 0.2262 0.1483 0.1481 0.0697 0.054 0.012 0.073 0.043 . rs35571769 COSM3763207;COSM3763206 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0635 0.0112 0.0275 0.0594 0.0002 0.1509 0.0766 0.0679 0.0544 0.0700 0.0140 0.0334 0.0331 0.0006 0.1601 0.0903 0.0937 het 404.53 24 8 145979138 . C T 404.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.263;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-1.844;QD=16.86;ReadPosRankSum=0.381;VQSLOD=5.5784;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,14:24:99:435,0,279 8 146067054 146067054 G A exonic ZNF7 nonsynonymous SNV ZNF7:NM_001349805:exon3:c.G274A:p.G92R,ZNF7:NM_001282797:exon4:c.G274A:p.G92R,ZNF7:NM_001349809:exon4:c.G625A:p.G209R,ZNF7:NM_001282795:exon5:c.G595A:p.G199R,ZNF7:NM_001349806:exon5:c.G613A:p.G205R,ZNF7:NM_001349807:exon5:c.G559A:p.G187R,ZNF7:NM_001349808:exon5:c.G610A:p.G204R,ZNF7:NM_003416:exon5:c.G562A:p.G188R 0.53 0.69 0.43 0.58 0.36 0.51 0.4417 0.6729 0.4334 0.5822 0.3560 0.3818 0.3985 0.5071 0.48 0.67 0.38 0.5 0.39 rs1735169 . . . . . . . . . . . . . 1.0 0.066 T 0.0 0.026 B 0.0 0.013 B 0.459 0.124 N 1 0.090 P 0.01 0.080 N 7.32 0.058 T 1.89 0.007 N 0.02 0.428 -1.064 0.107 T 0.000 0.000 T . . . -0.607 0.050 0.120 0.530 0.048 0.014 0.048 N c -1.280 -1.206 0.932 0.270 0.672 0.522 0 3.6 0.402 -0.123 0.105 -0.793 0.032 0.000 0.063 0.001 0.043 5.026 0.136 . ENSG00000197363.5|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196378.7|ENSG00000196378.7|ENSG00000161016.11|ENSG00000147789.11|ENSG00000147789.11|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196378.7|ENSG00000170619.8|ENSG00000147789.11|ENSG00000196378.7|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196378.7|ENSG00000197363.5|ENSG00000196378.7|ENSG00000161016.11|ENSG00000198169.4|ENSG00000161016.11|ENSG00000198169.4|ENSG00000196378.7|ENSG00000196378.7|ENSG00000161016.11|ENSG00000147789.11|ENSG00000147789.11|ENSG00000161016.11|ENSG00000197363.5|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196378.7|ENSG00000197363.5|ENSG00000147789.11|ENSG00000161016.11|ENSG00000196378.7|ENSG00000147789.11|ENSG00000147789.11|ENSG00000147789.11|ENSG00000196378.7|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196378.7|ENSG00000197363.5|ENSG00000197363.5|ENSG00000147789.11|ENSG00000161016.11|ENSG00000197363.5|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196378.7|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196378.7|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196378.7|ENSG00000198169.4|ENSG00000147789.11|ENSG00000196378.7|ENSG00000161016.11|ENSG00000197363.5|ENSG00000147789.11|ENSG00000196378.7|ENSG00000147789.11|ENSG00000161016.11|ENSG00000161016.11|ENSG00000147789.11|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196378.7|ENSG00000147789.11|ENSG00000161016.11|ENSG00000196378.7|ENSG00000161016.11|ENSG00000147789.11|ENSG00000197363.5|ENSG00000147789.11|ENSG00000196378.7|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196150.9|ENSG00000196378.7|ENSG00000161016.11|ENSG00000147789.11|ENSG00000196378.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Hippocampus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4372 0.6768 0.4322 0.4512 0.5768 0.3522 0.3825 0.4099 0.5057 0.4754 0.6665 0.4451 0.4238 0.5689 0.3503 0.3904 0.4110 het 1840.60 134 8 146067054 . G A 1840.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.340;DP=134;Dels=0.00;FS=2.408;HRun=0;HaplotypeScore=2.7095;MQ=59.86;MQ0=0;MQRankSum=0.389;QD=13.74;ReadPosRankSum=-0.541;VQSLOD=6.4246;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,66:134:99:1871,0,1925 8 146067125 146067125 C T exonic ZNF7 synonymous SNV ZNF7:NM_001349805:exon3:c.C345T:p.I115I,ZNF7:NM_001282797:exon4:c.C345T:p.I115I,ZNF7:NM_001349809:exon4:c.C696T:p.I232I,ZNF7:NM_001282795:exon5:c.C666T:p.I222I,ZNF7:NM_001349806:exon5:c.C684T:p.I228I,ZNF7:NM_001349807:exon5:c.C630T:p.I210I,ZNF7:NM_001349808:exon5:c.C681T:p.I227I,ZNF7:NM_003416:exon5:c.C633T:p.I211I 0.031 0.014 0.072 0.026 0.02 0.043 0.0310 0.0166 0.1033 0.0223 0.0129 0.0201 0.0320 0.0454 0.017 0.015 0.018 0.011 0.016 rs35883359 COSM3763209 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0341 0.0171 0.0986 0.0416 0.0241 0.0099 0.0198 0.0324 0.0451 0.0197 0.0170 0.0764 0.0464 0.0285 0.0106 0.0187 0.0204 het 939.31 70 8 146067125 . C T 939.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.061;DP=70;Dels=0.00;FS=0.912;HRun=1;HaplotypeScore=0.9469;MQ=59.40;MQ0=0;MQRankSum=0.195;QD=13.42;ReadPosRankSum=-1.480;VQSLOD=6.1724;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,32:70:99:969,0,1086 8 146115367 146115367 A G exonic ZNF250 synonymous SNV ZNF250:NM_001109689:exon3:c.T120C:p.G40G,ZNF250:NM_021061:exon3:c.T135C:p.G45G 0.91 0.97 0.87 1. 0.76 0.91 0.8335 0.9495 0.8949 0.9998 0.8150 0.7638 0.8360 0.9182 0.82 0.94 0.75 0.89 . rs2735906 COSM4162869;COSM4162870 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8357 0.9526 0.8950 0.8778 0.9995 0.8154 0.7547 0.8170 0.9175 0.8361 0.9392 0.8831 0.8907 0.9994 0.8204 0.7615 0.7857 hom 1565.77 51 8 146115367 . A G 1565.77 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.63;MQ0=0;QD=30.70;VQSLOD=8.8793;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:51:99:1599,120,0 8 146156247 146156247 C A exonic ZNF16 synonymous SNV ZNF16:NM_006958:exon3:c.G1926T:p.S642S,ZNF16:NM_001029976:exon4:c.G1926T:p.S642S 0.3 0.4 0.23 0.33 0.25 0.22 0.2663 0.3992 0.2028 0.3465 0.2781 0.2415 0.2956 0.2813 0.29 0.39 0.25 0.26 0.33 rs3735789 COSM3763210 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2582 0.3982 0.2077 0.2404 0.3501 0.2798 0.2392 0.2742 0.2441 0.2953 0.3867 0.2333 0.2 0.3387 0.2841 0.2474 0.2643 hom 6965.39 206 8 146156247 . C A 6965.39 Mask AC=2;AF=1.00;AN=2;DP=206;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9766;MQ=59.33;MQ0=0;QD=33.81;VQSLOD=2.3628;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:206:99:6933,542,0 8 146157339 146157339 T C exonic ZNF16 synonymous SNV ZNF16:NM_006958:exon3:c.A834G:p.S278S,ZNF16:NM_001029976:exon4:c.A834G:p.S278S 0.23 0.13 0.21 0.34 0.25 0.22 0.2368 0.1313 0.1913 0.3604 0.2823 0.2374 0.2665 0.2482 0.2 0.13 0.24 0.18 0.34 rs3735787 COSM1178518 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2409 0.1298 0.1950 0.2067 0.3651 0.2875 0.2416 0.2587 0.2484 0.2242 0.1330 0.2148 0.1755 0.3538 0.2915 0.2471 0.2566 hom 5030.71 159 8 146157339 . T C 5030.71 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4530;MQ=59.38;MQ0=0;QD=31.64;VQSLOD=9.4822;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5030,394,0 8 146171437 146171437 A G exonic ZNF16 synonymous SNV ZNF16:NM_006958:exon2:c.T156C:p.D52D,ZNF16:NM_001029976:exon3:c.T156C:p.D52D 0.24 0.17 0.21 0.33 0.25 0.23 0.2402 0.1725 0.1915 0.3501 0.2828 0.2377 0.2710 0.2514 0.22 0.17 0.24 0.2 0.33 rs3735785 COSM3763211 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2428 0.1736 0.1953 0.2044 0.3524 0.2872 0.2411 0.2598 0.2508 0.2376 0.1779 0.2136 0.1644 0.3449 0.2921 0.2495 0.2567 hom 4433.82 128 8 146171437 . A G 4433.82 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7820;MQ=59.20;MQ0=0;QD=34.64;VQSLOD=9.9935;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4433,346,0 9 399255 399255 G A exonic DOCK8 nonsynonymous SNV DOCK8:NM_001190458:exon24:c.G2930A:p.S977N,DOCK8:NM_001193536:exon25:c.G3026A:p.S1009N,DOCK8:NM_203447:exon26:c.G3230A:p.S1077N 0.061 0.14 0.086 . 0.034 0.026 0.0444 0.1103 0.1142 0.0012 0.0628 0.0263 0.0468 0.0423 0.058 0.11 0.033 0.065 0.0082 rs34627722 COSM4407381;COSM4407382 1(liver) Benign|Likely benign not_specified|Hyper-IgE_syndrome RCV000150512.2|RCV000364257.1 MedGen|MedGen:Orphanet CN169374|CN204280:ORPHA331223 . . . . . . 0.555 0.150 T 0.0 0.026 B 0.0 0.040 B 0.000 0.443 N 1.000 0.198 N -1.12 0.009 N 2.04 0.208 T -0.97 0.258 N 0.009 0.029 -0.950 0.411 T 0.000 0.001 T . . . 2.146 0.319 17.16 0.955 0.265 0.129 0.174 N c -0.606 -0.370 0.801 0.242 0.707 0.730 0 3.69 0.413 4.429 0.594 -0.119 0.114 1.000 0.715 0.992 0.562 7.283 0.253 . . . 0.0478 0.1121 0.1136 0.0117 0.0015 0.0612 0.0282 0.0445 0.0436 0.0546 0.1076 0.0981 0.0199 0 0.0648 0.0265 0.0431 het 1199.20 82 9 399255 . G A 1199.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.051;DP=82;Dels=0.00;FS=0.952;HRun=1;HaplotypeScore=1.8245;MQ=59.90;MQ0=0;MQRankSum=-2.088;QD=14.62;ReadPosRankSum=0.015;VQSLOD=4.7072;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,46:82:99:1229,0,854 9 421032 421032 C G exonic DOCK8 synonymous SNV DOCK8:NM_001190458:exon30:c.C3807G:p.L1269L,DOCK8:NM_001193536:exon31:c.C3903G:p.L1301L,DOCK8:NM_203447:exon32:c.C4107G:p.L1369L 0.39 0.081 0.44 0.5 0.62 0.44 0.5094 0.1497 0.3801 0.4827 0.4855 0.6124 0.5165 0.4331 0.46 0.17 0.61 0.37 0.5 rs2297079 COSM3763946;COSM3763947 2(thyroid);1(large_intestine) Benign|Benign|Benign not_specified|Hyperimmunoglobulin_E_recurrent_infection_syndrome\x2c_autosomal_recessive|Hyper-IgE_syndrome RCV000155533.2|RCV000210048.1|RCV000342888.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C1968689:243700:ORPHA217390|CN204280:ORPHA331223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5086 0.1413 0.3897 0.5121 0.4889 0.4842 0.6217 0.5363 0.4332 0.4491 0.1521 0.4354 0.4801 0.5155 0.4814 0.6050 0.4837 het 2654.41 165 9 421032 . C G 2654.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.791;DP=165;Dels=0.00;FS=2.505;HRun=0;HaplotypeScore=4.2328;MQ=58.80;MQ0=0;MQRankSum=1.710;QD=16.09;ReadPosRankSum=0.054;VQSLOD=4.9542;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,93:165:99:2684,0,2052 9 429719 429719 T C exonic DOCK8 synonymous SNV DOCK8:NM_001190458:exon34:c.T4191C:p.F1397F,DOCK8:NM_001193536:exon35:c.T4287C:p.F1429F,DOCK8:NM_203447:exon36:c.T4491C:p.F1497F 1. 1. 1. 1. 1. 1. 0.9978 0.9993 0.9959 0.9999 0.9998 0.9970 0.9967 0.9998 1. 1. 1. 1. 0.99 rs7854035 . . Likely benign\x2cBenign not_specified\x2cnot_specified RCV000420604.1\x2cRCV000155534.1 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9977 0.9995 0.9960 0.9997 0.9999 0.9999 0.9965 0.9958 0.9998 0.9979 0.9993 0.9928 1 1 0.9997 0.9965 1 hom 5945.79 198 9 429719 . T C 5945.79 Mask AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7998;MQ=59.44;MQ0=0;QD=30.03;VQSLOD=5.9179;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,196:198:99:5900,466,0 9 441952 441952 G A exonic DOCK8 synonymous SNV DOCK8:NM_001190458:exon40:c.G5133A:p.E1711E,DOCK8:NM_001193536:exon41:c.G5229A:p.E1743E,DOCK8:NM_203447:exon42:c.G5433A:p.E1811E 0.8 0.58 0.87 0.99 0.84 0.82 0.8201 0.5954 0.8865 0.9968 0.8310 0.8197 0.8106 0.8199 0.74 0.6 0.82 0.75 0.69 rs1887957 COSM4163899;COSM4163900 1(thyroid) Benign|Benign|Benign not_specified|Hyperimmunoglobulin_E_recurrent_infection_syndrome\x2c_autosomal_recessive|Hyper-IgE_syndrome RCV000155535.2|RCV000210054.1|RCV000262385.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C1968689:243700:ORPHA217390|CN204280:ORPHA331223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8252 0.5888 0.8833 0.7635 0.9965 0.8303 0.8208 0.8189 0.8167 0.7641 0.5880 0.8795 0.8013 0.9981 0.8293 0.8162 0.8020 hom 2793.20 93 9 441952 . G A 2793.20 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.81;MQ0=0;QD=30.03;VQSLOD=8.4736;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2826,226,0 9 449874 449874 G C exonic DOCK8 nonsynonymous SNV DOCK8:NM_001190458:exon43:c.G5608C:p.A1870P,DOCK8:NM_001193536:exon44:c.G5704C:p.A1902P,DOCK8:NM_203447:exon45:c.G5908C:p.A1970P 0.1 0.15 0.052 0.0099 0.07 0.2 0.0646 0.1399 0.0278 0.0074 0.0449 0.0438 0.0606 0.1652 0.075 0.13 0.046 0.12 0.066 rs34908836 COSM3763951;COSM3763950 1(large_intestine) Benign|Likely benign not_specified|Hyper-IgE_syndrome RCV000155536.2|RCV000353234.1 MedGen|MedGen:Orphanet CN169374|CN204280:ORPHA331223 . . . . . . 0.596 0.057 T 0.0 0.026 B 0.001 0.127 B 0.000 0.843 N 0.004 0.431 P 0.56 0.152 N 2.18 0.189 T 0.06 0.063 N 0.102 0.121 -1.063 0.109 T 0.000 0.001 T . . . 2.373 0.346 18.64 0.903 0.190 0.913 0.530 D c -0.586 -0.379 0.993 0.332 0.707 0.730 0 3.68 0.412 2.615 0.458 -0.285 0.084 1.000 0.715 0.997 0.653 18.654 0.914 DHR-2 domain|Dedicator of cytokinesis\x2c C-terminal . . 0.0617 0.1371 0.0300 0.0477 0.0100 0.0454 0.0457 0.0536 0.1633 0.0660 0.1310 0.0395 0.0464 0.0117 0.0387 0.0429 0.0580 het 1679.91 144 9 449874 . G C 1679.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.317;DP=144;Dels=0.00;FS=2.256;HRun=1;HaplotypeScore=1.9814;MQ=59.58;MQ0=0;MQRankSum=-0.178;QD=11.67;ReadPosRankSum=0.106;VQSLOD=6.4695;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,66:144:99:1710,0,1999 9 712137 712137 G C exonic KANK1 synonymous SNV KANK1:NM_153186:exon2:c.G897C:p.L299L,KANK1:NM_015158:exon3:c.G1371C:p.L457L,KANK1:NM_001256877:exon4:c.G1371C:p.L457L,KANK1:NM_001256876:exon7:c.G1371C:p.L457L 0.18 0.18 0.3 0.19 0.21 0.067 0.2110 0.1810 0.4067 0.2005 0.1926 0.2163 0.1711 0.0863 0.21 0.18 0.22 0.15 0.16 rs912175 COSM4419453;COSM150569;COSM4419454 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2204 0.1779 0.3952 0.1713 0.2082 0.1918 0.2216 0.2311 0.0877 0.2085 0.1809 0.3735 0.1623 0.2420 0.2032 0.2142 0.2037 hom 3073 101 9 712137 . G C 3073 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.051;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9155;MQ=59.77;MQ0=0;MQRankSum=1.492;QD=30.43;ReadPosRankSum=1.149;VQSLOD=7.5935;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,100:101:99:3106,208,0 9 712156 712156 T G exonic KANK1 nonsynonymous SNV KANK1:NM_153186:exon2:c.T916G:p.S306A,KANK1:NM_015158:exon3:c.T1390G:p.S464A,KANK1:NM_001256877:exon4:c.T1390G:p.S464A,KANK1:NM_001256876:exon7:c.T1390G:p.S464A 0.2 0.25 0.31 0.19 0.21 0.067 0.2189 0.2496 0.4098 0.2015 0.1931 0.2191 0.1799 0.0866 0.23 0.25 0.22 0.21 0.16 rs912174 COSM3927868;COSM150570;COSM3927869 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.210 P -2.165 0.001 N 1.47 0.320 T 1.23 0.017 N 0.039 0.055 -0.952 0.407 T 0.000 0.000 T . . . 0.767 0.167 9.261 0.448 0.034 0.348 0.249 N c -0.835 -0.490 1.000 0.747 0.707 0.730 0 5.52 0.821 2.437 0.442 0.135 0.219 0.997 0.399 0.991 0.552 15.586 0.761 . ENSG00000107104.14 Cells_Transformed_fibroblasts 0.2269 0.2488 0.3983 0.1724 0.2091 0.1927 0.2245 0.2349 0.0880 0.2312 0.2544 0.3816 0.1623 0.2450 0.2038 0.2173 0.2067 hom 2761.11 84 9 712156 . T G 2761.11 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.73;MQ0=0;QD=32.87;VQSLOD=9.4621;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2794,214,0 9 732536 732536 T C exonic KANK1 nonsynonymous SNV KANK1:NM_153186:exon5:c.T2690C:p.I897T,KANK1:NM_015158:exon6:c.T3164C:p.I1055T,KANK1:NM_001256877:exon7:c.T3164C:p.I1055T,KANK1:NM_001256876:exon10:c.T3164C:p.I1055T 0.13 0.19 0.21 0.004 0.17 0.054 0.1539 0.1806 0.2502 0.0036 0.1362 0.1748 0.1355 0.0724 0.18 0.19 0.18 0.17 0.2 rs34832656 COSM4418841;COSM4418842 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.572 0.062 T 0.004 0.158 B 0.018 0.173 B 0.568 0.055 N 1 0.090 P 0.76 0.193 N 0.91 0.449 T 0.3 0.070 N 0.059 0.156 -1.033 0.194 T 0.000 0.000 T . . . -0.554 0.052 0.162 0.383 0.026 0.061 0.119 N c -1.057 -0.993 1.000 0.405 0.732 0.924 0 0.228 0.146 0.575 0.233 0.150 0.237 0.000 0.063 0.999 0.750 0.363 0.003 . . . 0.1559 0.1837 0.2394 0.1860 0.0029 0.1363 0.1736 0.1757 0.0735 0.1612 0.1808 0.2249 0.1689 0.0006 0.1395 0.1688 0.1551 hom 5982.14 183 9 732536 . T C 5982.14 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7900;MQ=58.91;MQ0=0;QD=32.69;VQSLOD=9.1876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:5982,466,0 9 740901 740901 C T exonic KANK1 synonymous SNV KANK1:NM_153186:exon8:c.C3189T:p.F1063F,KANK1:NM_015158:exon9:c.C3663T:p.F1221F,KANK1:NM_001256877:exon10:c.C3663T:p.F1221F,KANK1:NM_001256876:exon13:c.C3663T:p.F1221F 0.27 0.41 0.32 0.17 0.21 0.18 0.2418 0.4052 0.3921 0.1899 0.1854 0.2170 0.2174 0.1851 0.28 0.4 0.22 0.33 0.25 rs2296049 COSM4417462;COSM150572;COSM4417461 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2427 0.4090 0.3798 0.2061 0.1938 0.1834 0.2165 0.2479 0.1862 0.2654 0.3983 0.3732 0.2020 0.2206 0.1804 0.2117 0.2086 hom 3387.05 104 9 740901 . C T 3387.05 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5929;MQ=57.65;MQ0=0;QD=32.57;VQSLOD=7.4986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3387,268,0 9 742342 742342 A G exonic KANK1 synonymous SNV KANK1:NM_153186:exon9:c.A3360G:p.G1120G,KANK1:NM_015158:exon10:c.A3834G:p.G1278G,KANK1:NM_001256877:exon11:c.A3834G:p.G1278G,KANK1:NM_001256876:exon14:c.A3834G:p.G1278G 1. 1. 1. 1. 0.99 1. 0.9953 0.9990 0.9962 1 0.9950 0.9931 0.9967 0.9987 0.99 1. 0.99 1. 0.95 rs10733535 COSM3763986;COSM3763984;COSM5831108;COSM3763985 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9993 0.9963 0.9970 0.9999 0.9955 0.9928 0.9956 0.9988 0.9934 0.9989 0.9916 1 1 0.9989 0.9887 0.9878 hom 4191.89 118 9 742342 . A G 4191.89 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.2613;MQ=59.29;MQ0=0;QD=35.52;VQSLOD=7.1554;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:4191,334,0 9 894156 894156 C G exonic DMRT1 synonymous SNV DMRT1:NM_021951:exon3:c.C783G:p.P261P 0.0014 . 0.0014 . 0.005 0.001 0.0043 0.0007 0.0022 0 0.0098 0.0056 0.0077 0.0024 . . . . 0.016 rs34946058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0048 0.0007 0.0017 0.0157 0 0.0109 0.0053 0.0047 0.0027 0.0049 0.0014 0.0024 0.0099 0 0.0129 0.0055 0.0081 het 1307.63 102 9 894156 . C G 1307.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.111;DP=102;Dels=0.00;FS=10.227;HRun=2;HaplotypeScore=5.9869;MQ=58.62;MQ0=0;MQRankSum=1.117;QD=12.82;ReadPosRankSum=0.977;VQSLOD=3.8912;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,53:102:99:1338,0,1364 9 990653 990653 G T exonic DMRT3 nonsynonymous SNV DMRT3:NM_021240:exon2:c.G1067T:p.G356V 0.054 0.018 0.088 0.075 0.065 0.047 0.0658 0.0230 0.1239 0.0633 0.0416 0.0661 0.0607 0.0620 0.053 0.027 0.066 0.054 0.09 rs16927037 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.184 0.170 N 0.999 0.216 N -2.32 0.001 N 2.24 0.179 T 1.15 0.012 N 0.068 0.055 -0.958 0.395 T 0.001 0.003 T . . . -0.967 0.033 0.019 0.071 0.000 0.039 0.092 N c -0.933 -0.764 0.960 0.284 0.487 0.133 0 3.79 0.426 4.656 0.609 0.152 0.238 1.000 0.715 0.607 0.290 11.956 0.521 . . . 0.0687 0.0211 0.1190 0.0933 0.0604 0.0413 0.0664 0.0680 0.0621 0.0533 0.0228 0.1325 0.0927 0.0621 0.0404 0.0676 0.0583 het 1923.77 169 9 990653 . G T 1923.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.711;DP=169;Dels=0.00;FS=0.592;HRun=0;HaplotypeScore=5.3614;MQ=58.14;MQ0=0;MQRankSum=0.574;QD=11.38;ReadPosRankSum=-0.124;VQSLOD=5.2681;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,75:169:99:1954,0,2449 9 990840 990840 C T exonic DMRT3 synonymous SNV DMRT3:NM_021240:exon2:c.C1254T:p.V418V 0.19 0.011 0.18 0.23 0.22 0.35 0.2207 0.0396 0.1928 0.2063 0.1936 0.2290 0.2533 0.3369 0.16 0.05 0.22 0.13 0.16 rs7021244 COSM3764083 1(breast);1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2233 0.0370 0.1875 0.3056 0.2055 0.2088 0.2272 0.2270 0.3345 0.1668 0.0394 0.2005 0.2947 0.1912 0.1982 0.2235 0.2149 het 1056.54 79 9 990840 . C T 1056.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.410;DP=79;Dels=0.00;FS=3.005;HRun=2;HaplotypeScore=2.8652;MQ=60.00;MQ0=0;MQRankSum=0.673;QD=13.37;ReadPosRankSum=1.754;VQSLOD=5.6814;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,42:79:99:1087,0,1049 9 1056728 1056728 G C exonic DMRT2 nonsynonymous SNV DMRT2:NM_181872:exon4:c.G1141C:p.A381P 0.35 0.15 0.42 0.48 0.35 0.42 0.3650 0.1823 0.5034 0.4696 0.3755 0.3450 0.3540 0.4057 0.29 0.19 0.34 0.26 0.37 rs3824419 COSM4408833 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.13 0.267 T 0.337 0.316 B 0.063 0.256 B 0.391 0.132 N 1 0.090 P 1.39 0.351 L 1.89 0.237 T -0.65 0.189 N 0.026 0.036 -0.921 0.454 T 0.000 0.000 T . . . -0.314 0.067 0.616 0.975 0.336 0.107 0.160 N c -1.000 -1.024 0.779 0.238 0.554 0.246 0 -1.62 0.079 0.462 0.215 -0.236 0.093 0.005 0.169 0.078 0.180 1.553 0.024 . . . 0.3727 0.1858 0.4923 0.3591 0.4690 0.3692 0.3427 0.3598 0.3988 0.3088 0.1834 0.4077 0.3841 0.4950 0.3462 0.3435 0.3497 het 1993.68 172 9 1056728 . G C 1993.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.719;DP=172;Dels=0.00;FS=2.745;HRun=1;HaplotypeScore=6.3170;MQ=59.62;MQ0=0;MQRankSum=-0.271;QD=11.59;ReadPosRankSum=0.997;VQSLOD=4.3623;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,76:172:99:2024,0,2853 9 2191309 2191309 C G exonic SMARCA2 nonsynonymous SNV SMARCA2:NM_001289398:exon6:c.C612G:p.D204E,SMARCA2:NM_001289399:exon7:c.C696G:p.D232E,SMARCA2:NM_001289400:exon7:c.C702G:p.D234E,SMARCA2:NM_001289397:exon32:c.C4410G:p.D1470E,SMARCA2:NM_139045:exon32:c.C4584G:p.D1528E,SMARCA2:NM_001289396:exon33:c.C4638G:p.D1546E,SMARCA2:NM_003070:exon33:c.C4638G:p.D1546E 0.22 0.31 0.21 0.22 0.098 0.26 0.1684 0.2799 0.2614 0.2186 0.1386 0.1087 0.1795 0.2593 0.17 0.27 0.11 0.14 0.24 rs2296212 COSM4408970;COSM4408969;COSM4408971;COSM4408968 1(haematopoietic_and_lymphoid_tissue);3(soft_tissue);1(liver) Likely benign|Benign not_specified|Nicolaides-Baraitser_syndrome RCV000114292.2|RCV000298011.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1303073:601358:ORPHA3051:401046009 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.353 N 0.999 0.215 P -1.59 0.004 N -2.13 0.868 D 0.54 0.028 N 0.062 0.047 -1.098 0.044 T 0.000 0.000 T . . . 2.083 0.311 16.74 0.549 0.051 0.414 0.264 N c -0.777 -0.517 0.997 0.356 0.707 0.730 0 3.76 0.422 0.114 0.152 0.073 0.181 0.985 0.357 0.997 0.653 12.624 0.558 . . . 0.1686 0.2837 0.2473 0.0962 0.2180 0.1353 0.1112 0.1535 0.2565 0.1711 0.2721 0.2172 0.1093 0.2200 0.1413 0.1157 0.1232 het 1409.24 93 9 2191309 . C G 1409.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.544;DP=93;Dels=0.00;FS=5.328;HRun=0;HaplotypeScore=3.3245;MQ=58.16;MQ0=0;MQRankSum=1.482;QD=15.15;ReadPosRankSum=1.211;VQSLOD=4.2395;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,52:93:99:1439,0,1089 9 2648773 2648773 A G exonic VLDLR synonymous SNV VLDLR:NM_001322225:exon13:c.A1944G:p.Q648Q,VLDLR:NM_001322226:exon13:c.A1944G:p.Q648Q,VLDLR:NM_001018056:exon14:c.A2067G:p.Q689Q,VLDLR:NM_003383:exon14:c.A2067G:p.Q689Q 0.074 0.026 0.079 0.002 0.21 0.072 0.1450 0.0461 0.0750 0.0003 0.2061 0.1978 0.1468 0.0942 0.14 0.048 0.19 0.087 0.14 rs6148 COSM4406883 1(liver) Likely benign|Likely benign not_specified|Cerebellar_hypoplasia RCV000118821.2|RCV000285729.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001321:CN001210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1446 0.0472 0.0786 0.2075 0.0004 0.2098 0.1948 0.1631 0.0933 0.1412 0.0487 0.0955 0.2285 0.0012 0.2153 0.1918 0.1690 het 1610.71 139 9 2648773 . A G 1610.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.343;DP=139;Dels=0.00;FS=0.741;HRun=1;HaplotypeScore=4.0218;MQ=58.86;MQ0=0;MQRankSum=1.711;QD=11.59;ReadPosRankSum=0.471;VQSLOD=5.9328;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,59:139:99:1641,0,2356 9 2717922 2717922 C G exonic KCNV2 synonymous SNV KCNV2:NM_133497:exon1:c.C183G:p.G61G 0.66 0.63 0.74 0.77 0.57 0.61 0.6116 0.6381 0.7967 0.7831 0.5463 0.5584 0.5929 0.6172 0.59 0.63 0.56 0.66 0.37 rs10967705 COSM3763866 1(bone);1(thyroid);1(large_intestine) Benign|Benign not_specified|Cone_dystrophy_3 RCV000082506.5|RCV000384481.1 MedGen|MedGen:OMIM CN169374|C1865869:602093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6174 0.6349 0.7846 0.6113 0.7829 0.5349 0.5581 0.5892 0.6153 0.5943 0.6322 0.7380 0.6467 0.7923 0.5132 0.5593 0.6135 het 1530.53 115 9 2717922 . C G 1530.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.351;DP=115;Dels=0.00;FS=0.780;HRun=2;HaplotypeScore=4.5985;MQ=59.80;MQ0=0;MQRankSum=-0.997;QD=13.31;ReadPosRankSum=-0.215;VQSLOD=5.0110;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,60:115:99:1561,0,1369 9 2718534 2718534 C G exonic KCNV2 synonymous SNV KCNV2:NM_133497:exon1:c.C795G:p.A265A 0.48 0.35 0.55 0.72 0.47 0.37 0.4896 0.3981 0.5816 0.7209 0.5492 0.4782 0.4817 0.3805 0.44 0.38 0.46 0.34 0.28 rs12237048 COSM455793 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Cone_dystrophy_3 RCV000082511.5|RCV000403665.1 MedGen|MedGen:OMIM CN169374|C1865869:602093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4835 0.3747 0.5669 0.4583 0.7178 0.5206 0.4635 0.4667 0.3667 0.4633 0.3785 0.5562 0.4470 0.7323 0.5117 0.4662 0.4837 het 418.03 29 9 2718534 . C G 418.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.280;DP=29;Dels=0.00;FS=8.557;HRun=0;HaplotypeScore=1.9153;MQ=59.20;MQ0=0;MQRankSum=0.155;QD=14.41;ReadPosRankSum=1.085;VQSLOD=4.5288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,17:29:99:448,0,360 9 2718588 2718588 G A exonic KCNV2 synonymous SNV KCNV2:NM_133497:exon1:c.G849A:p.E283E 0.003 . 0.0043 . 0.011 0.001 0.0080 0.0020 0.0068 0 0.0110 0.0116 0.0073 0.0016 0.0071 0.0005 0.011 . . rs17656693 . . Benign not_specified RCV000153397.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0075 0.0022 0.0063 0.0033 0 0.0117 0.0109 0.0072 0.0016 0.0082 0.0013 0.0131 0 0 0.0126 0.0120 0.0092 het 646.89 43 9 2718588 . G A 646.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.893;DP=43;Dels=0.00;FS=1.379;HRun=1;HaplotypeScore=4.1977;MQ=57.82;MQ0=0;MQRankSum=1.186;QD=15.04;ReadPosRankSum=-0.257;VQSLOD=4.5371;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,24:43:99:677,0,583 9 2718712 2718712 C A exonic KCNV2 nonsynonymous SNV KCNV2:NM_133497:exon1:c.C973A:p.P325T . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.02 0.496 D 0.966 0.542 D 0.796 0.562 P 0.000 0.843 D 1 0.810 D 2.235 0.634 M -4.44 0.975 D -6.35 0.910 D 0.938 0.933 1.053 0.982 D 0.919 0.973 D 0.640 0.969 D 4.870 0.654 24.9 0.998 0.894 0.948 0.622 D c 0.530 0.489 1.000 0.747 0.428 0.059 0 5.22 0.722 6.164 0.715 0.852 0.362 1.000 0.715 0.803 0.337 18.807 0.920 Ion transport domain|Voltage-dependent channel\x2c four helix bundle domain . . . . . . . . . . . . . . . . . . . het 1644.70 131 9 2718712 . C A 1644.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.463;DP=131;Dels=0.00;FS=4.523;HRun=0;HaplotypeScore=3.8287;MQ=59.15;MQ0=0;MQRankSum=1.442;QD=12.55;ReadPosRankSum=1.123;VQSLOD=3.5735;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,64:131:99:1675,0,1965 9 4118208 4118208 A G exonic GLIS3 nonsynonymous SNV GLIS3:NM_152629:exon3:c.T805C:p.S269P,GLIS3:NM_001042413:exon4:c.T1270C:p.S424P 1. 1. 1. 1. 1. 1. 0.9997 0.9958 1 1 1 1.0000 1 1 1. 1. 1. 0.94 0.46 rs806052 COSM3763944;COSM3763945 1(thyroid);3(large_intestine) other|Benign not_specified|Diabetes_mellitus\x2c_neonatal\x2c_with_congenital_hypothyroidism RCV000117148.4|RCV000348024.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857775:610199:ORPHA79118 . . . . . . 0.654 0.048 T 0.0 0.026 B 0.0 0.013 B 0.491 0.120 N 1 0.090 P -0.42 0.029 N 2.85 0.109 T -0.42 0.162 N 0.014 0.015 -1.067 0.101 T 0.000 0.000 T . . . -1.348 0.021 0.004 0.311 0.017 0.012 0.042 N c -1.735 -1.743 1.000 0.517 0.520 0.210 0 -2.61 0.058 -0.854 0.044 -2.414 0.003 0.000 0.063 0.008 0.104 2.681 0.047 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9997 0.9960 0.9998 1 1 1 1.0000 1 1 0.9991 0.9967 1 1 1 1 1 1 hom 254.98 11 9 4118208 . A G 254.98 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.18;VQSLOD=11.6947;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:21.07:288,21,0 9 4490760 4490760 G C exonic SLC1A1 synonymous SNV SLC1A1:NM_004170:exon1:c.G81C:p.A27A 0.0074 0.0008 0.0058 . 0.029 0.0031 0.0163 0.0045 0.0059 0 0.0327 0.0229 0.0140 0.0068 0.017 0.005 0.024 . . rs2229885 COSM1559856 1(central_nervous_system) Uncertain significance Dicarboxylic_aminoaciduria RCV000283240.1 MedGen:OMIM:Orphanet C1857253:222730:ORPHA2195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0157 0.0046 0.0066 0.0029 0 0.0271 0.0241 0.0139 0.0063 0.0173 0.0052 0.0048 0.0066 0 0.0261 0.0248 0.0204 het 271.66 33 9 4490760 . G C 271.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.701;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8646;MQ=58.53;MQ0=0;MQRankSum=0.180;QD=8.23;ReadPosRankSum=0.100;VQSLOD=5.1425;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,15:33:99:302,0,534 9 4576680 4576680 T C exonic SLC1A1 synonymous SNV SLC1A1:NM_004170:exon10:c.T1110C:p.T370T 0.46 0.51 0.38 0.59 0.33 0.44 0.3637 0.5052 0.3889 0.6094 0.4667 0.2927 0.3722 0.3742 0.35 0.5 0.28 0.45 0.29 rs301430 COSM3763952 1(haematopoietic_and_lymphoid_tissue);2(liver);1(large_intestine) Benign Dicarboxylic_aminoaciduria RCV000402585.1 MedGen:OMIM:Orphanet C1857253:222730:ORPHA2195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3629 0.5088 0.3807 0.2229 0.6105 0.4554 0.2924 0.3302 0.3713 0.3962 0.5103 0.3717 0.2633 0.6211 0.4602 0.2979 0.3504 het 2822.38 247 9 4576680 . T C 2822.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.293;DP=247;DS;Dels=0.00;FS=6.179;HRun=1;HaplotypeScore=3.8624;MQ=59.91;MQ0=0;MQRankSum=0.869;QD=11.43;ReadPosRankSum=-0.828;VQSLOD=4.6952;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:138,109:247:99:2852,0,4116 9 5050706 5050706 C T exonic JAK2 synonymous SNV JAK2:NM_001322204:exon3:c.C42T:p.H14H,JAK2:NM_001322195:exon5:c.C489T:p.H163H,JAK2:NM_001322196:exon5:c.C489T:p.H163H,JAK2:NM_001322194:exon6:c.C489T:p.H163H,JAK2:NM_004972:exon6:c.C489T:p.H163H 0.36 0.49 0.39 0.27 0.3 0.31 0.3257 0.4724 0.3184 0.2708 0.3261 0.3120 0.3057 0.3232 0.36 0.46 0.3 0.39 0.28 rs2230722 COSM4432269 1(oesophagus) Benign|Benign Budd-Chiari_syndrome|not_specified RCV000320342.1|RCV000456020.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0856761:600880:ORPHA131:82385007|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3223 0.4748 0.3194 0.2777 0.2737 0.3381 0.3105 0.3152 0.3238 0.3526 0.4528 0.3345 0.2848 0.2631 0.3475 0.3065 0.3681 het 941.50 76 9 5050706 . C T 941.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.581;DP=76;Dels=0.00;FS=1.921;HRun=0;HaplotypeScore=5.5439;MQ=58.02;MQ0=0;MQRankSum=0.921;QD=12.39;ReadPosRankSum=-0.165;VQSLOD=5.0821;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,34:76:99:971,0,982 9 5335470 5335470 C T exonic RLN1 synonymous SNV RLN1:NM_006911:exon2:c.G339A:p.Q113Q 0.35 0.3 0.33 0.42 0.26 0.45 0.2899 0.3033 0.4130 0.3975 0.1913 0.2367 0.2610 0.3954 0.26 0.3 0.24 0.41 0.25 rs2273782 COSM3982894 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2912 0.3016 0.4035 0.2800 0.3873 0.1894 0.2354 0.2837 0.3911 0.2538 0.2948 0.3792 0.3609 0.3724 0.1889 0.2227 0.2613 het 2271.96 180 9 5335470 . C T 2271.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.696;DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=59.41;MQ0=0;MQRankSum=-0.864;QD=12.62;ReadPosRankSum=-0.818;VQSLOD=6.4889;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,89:180:99:2302,0,2382 9 5557672 5557672 T C exonic PDCD1LG2 nonsynonymous SNV PDCD1LG2:NM_025239:exon5:c.T686C:p.F229S 1. 0.99 1. 1. 1. 1. 0.9992 0.9967 0.9984 1 1 0.9993 0.9989 0.9999 1. 1. 1. 0.99 1. rs7854303 . . . . . . . . . . . . . 0.552 0.065 T 0.0 0.026 B 0.0 0.013 B 0.724 0.099 N 1 0.090 P . . . 5.16 0.012 T 1.97 0.004 N 0.027 0.009 -1.036 0.184 T 0.000 0.000 T . . . -0.047 0.089 2.158 0.169 0.005 0.001 0.005 N c -1.415 -1.354 1.000 0.747 0.707 0.730 0 0.724 0.173 -0.676 0.053 0.067 0.174 0.000 0.063 0.021 0.135 7.742 0.278 . . . 0.9991 0.9965 0.9974 0.9998 1 1 0.9994 0.9978 0.9999 0.9989 0.9975 0.9964 1 1 1 0.9995 0.9980 hom 6848.64 207 9 5557672 . T C 6848.64 Mask AC=2;AF=1.00;AN=2;DP=207;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6796;MQ=59.32;MQ0=0;QD=33.09;VQSLOD=8.7960;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6848,536,0 9 5557708 5557708 T C exonic PDCD1LG2 nonsynonymous SNV PDCD1LG2:NM_025239:exon5:c.T722C:p.I241T 0.28 0.64 0.13 0.12 0.1 0.25 0.1549 0.5668 0.1182 0.1169 0.0558 0.0933 0.1399 0.2301 0.25 0.55 0.096 0.41 0.066 rs7854413 COSM3982895 1(haematopoietic_and_lymphoid_tissue);3(soft_tissue) . . . . . . . . . . . 0.01 0.564 D 0.816 0.436 P 0.244 0.371 B 0.026 0.259 N 1 0.090 P . . . 5.07 0.013 T -1.6 0.385 N 0.193 0.236 -1.012 0.263 T 0.000 0.000 T . . . 1.117 0.202 11.31 0.875 0.167 0.021 0.061 N c -0.844 -0.912 1.000 0.747 0.563 0.310 0 2.37 0.282 0.295 0.187 0.145 0.233 0.002 0.151 0.012 0.117 5.786 0.175 . . . 0.1432 0.5765 0.1195 0.0831 0.1114 0.0555 0.0958 0.1256 0.2287 0.2248 0.5677 0.1289 0.0828 0.0983 0.0555 0.0939 0.1171 het 2124.77 156 9 5557708 . T C 2124.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.000;DP=156;DS;Dels=0.00;FS=1.388;HRun=0;HaplotypeScore=2.8181;MQ=58.91;MQ0=0;MQRankSum=1.061;QD=13.62;ReadPosRankSum=0.566;VQSLOD=6.4698;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,71:156:99:2155,0,2401 9 5968416 5968416 A G exonic KIAA2026 synonymous SNV KIAA2026:NM_001017969:exon3:c.T1815C:p.L605L 0.82 0.71 0.88 0.68 0.98 0.9 0.9231 0.7448 0.9032 0.6810 0.9204 0.9838 0.9152 0.9253 0.92 0.76 0.99 0.8 . rs3739649 COSM4163941 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9226 0.7379 0.8993 0.9474 0.6752 0.9229 0.9883 0.9476 0.9271 0.8887 0.7511 0.8947 0.9305 0.6673 0.9172 0.9829 0.9141 hom 3796.47 128 9 5968416 . A G 3796.47 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.71;MQ0=0;QD=29.66;VQSLOD=8.3991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:3796,283,0 9 5969249 5969249 A G exonic KIAA2026 synonymous SNV KIAA2026:NM_001017969:exon3:c.T982C:p.L328L 0.51 0.32 0.56 0.54 0.69 0.51 0.6314 0.3577 0.5895 0.5347 0.6683 0.7116 0.6177 0.5348 0.62 0.39 0.72 0.51 . rs10739080 COSN168464 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6297 0.3535 0.5881 0.5690 0.5268 0.6669 0.7184 0.6336 0.5402 0.5978 0.3725 0.5873 0.5993 0.5143 0.6529 0.7217 0.6544 hom 2508.41 82 9 5969249 . A G 2508.41 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=30.59;VQSLOD=9.0945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2541,193,0 9 6253571 6253571 C T exonic IL33 synonymous SNV IL33:NM_001199641:exon3:c.C111T:p.Y37Y,IL33:NM_001199640:exon5:c.C363T:p.Y121Y,IL33:NM_001314048:exon5:c.C363T:p.Y121Y,IL33:NM_001314044:exon6:c.C489T:p.Y163Y,IL33:NM_001314045:exon6:c.C489T:p.Y163Y,IL33:NM_001314046:exon6:c.C471T:p.Y157Y,IL33:NM_001314047:exon6:c.C471T:p.Y157Y,IL33:NM_033439:exon6:c.C489T:p.Y163Y 0.41 0.42 0.45 0.44 0.32 0.41 0.3770 0.3876 0.6022 0.4771 0.3489 0.3221 0.3573 0.3949 0.33 0.38 0.3 0.39 0.25 rs10975519 COSM3763959 1(liver);1(oesophagus);1(large_intestine) . . . . . Endometriosis 1.19 . 23472165 rs10975519 9E-7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3800 0.3874 0.5845 0.2777 0.4805 0.3515 0.3159 0.3738 0.3889 0.3571 0.3835 0.5443 0.2649 0.4851 0.3444 0.3229 0.3484 hom 1998.53 74 9 6253571 . C T 1998.53 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;QD=27.01;VQSLOD=7.5764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2032,150,0 9 6328947 6328947 T C exonic TPD52L3 nonsynonymous SNV TPD52L3:NM_001001874:exon1:c.T352C:p.F118L,TPD52L3:NM_001001875:exon1:c.T352C:p.F118L,TPD52L3:NM_033516:exon1:c.T352C:p.F118L 0.92 0.78 0.94 1. 0.97 0.98 0.9499 0.8120 0.9713 0.9999 0.9797 0.9535 0.9537 0.9688 0.91 0.82 0.95 0.9 0.94 rs3847262 . . . . . . . . . . . . . 0.029 0.457 D 0.983 0.764 D 0.885 0.782 P 0.000 0.843 D 0.002 0.506 P 3.19 0.892 M 1.11 0.389 T -5.66 0.870 D 0.323 0.642 -1.088 0.059 T 0.000 0.000 T . . . 5.733 0.783 26.9 0.998 0.910 0.920 0.544 D c 0.582 0.505 0.992 0.327 0.487 0.133 0 4.41 0.524 1.546 0.356 0.954 0.563 0.658 0.280 0.012 0.117 10.222 0.422 . . . 0.9535 0.8129 0.9654 0.9600 0.9997 0.9814 0.9516 0.9547 0.9687 0.9213 0.8136 0.9594 0.9633 1 0.9774 0.9576 0.9499 hom 5385.95 170 9 6328947 . T C 5385.95 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6640;MQ=59.35;MQ0=0;QD=31.68;VQSLOD=9.7342;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:5385,418,0 9 6477791 6477791 C T exonic UHRF2 synonymous SNV UHRF2:NM_152896:exon6:c.C1143T:p.V381V 0.036 0.09 0.013 . 0.033 0.018 0.0310 0.0739 0.0103 0.0001 0.0439 0.0335 0.0295 0.0183 0.043 0.069 0.03 0.076 0.09 rs73399085 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0299 0.0760 0.0126 0.0474 0.0002 0.0441 0.0322 0.0313 0.0178 0.0440 0.0713 0.0155 0.0232 0.0006 0.0398 0.0355 0.0479 het 1282.68 116 9 6477791 . C T 1282.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.456;DP=116;Dels=0.00;FS=1.563;HRun=1;HaplotypeScore=1.7998;MQ=59.48;MQ0=0;MQRankSum=0.678;QD=11.06;ReadPosRankSum=-0.318;VQSLOD=6.5452;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,54:116:99:1313,0,1670 9 6645251 6645251 C T exonic GLDC synonymous SNV GLDC:NM_000170:exon1:c.G249A:p.G83G 0.25 0.23 0.25 0.21 0.23 0.35 0.2832 0.2656 0.2788 0.2270 0.3482 0.2685 0.2393 0.3634 0.21 0.21 0.21 0.22 0.16 rs12341698 COSM1756188 1(urinary_tract);1(lung);1(thyroid) Benign|Benign not_specified|Non-ketotic_hyperglycinemia RCV000248859.1|RCV000280644.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0751748:605899:ORPHA407:237939006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2259 0.2134 0.2109 0.2103 0.1872 0.2254 0.2132 0.2223 0.3186 0.2214 0.2212 0.2201 0.2450 0.1859 0.2377 0.2215 0.2153 het 63.17 14 9 6645251 . C T 63.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.051;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;MQRankSum=0.212;QD=4.51;ReadPosRankSum=-1.344;VQSLOD=3.9292;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,4:14:93.16:93,0,325 9 6986464 6986464 G C exonic KDM4C nonsynonymous SNV KDM4C:NM_001304340:exon10:c.G932C:p.S311T,KDM4C:NM_001146695:exon11:c.G1475C:p.S492T,KDM4C:NM_001146696:exon11:c.G1541C:p.S514T,KDM4C:NM_001304339:exon11:c.G1475C:p.S492T,KDM4C:NM_015061:exon11:c.G1475C:p.S492T 0.031 0.0038 0.04 0.001 0.11 0.014 0.0913 0.0192 0.0346 0.0001 0.1669 0.1305 0.0960 0.0349 0.094 0.023 0.13 0.043 0.082 rs35826653 COSM5880756;COSM5880754;COSM5880755 1(soft_tissue) . . . . . . . . . . . 0.49 0.110 T 0.094 0.264 B 0.016 0.218 B 0.003 0.009 N 1 0.090 P 1.175 0.300 L 0.88 0.460 T -0.57 0.183 N 0.057 0.107 -1.108 0.032 T 0.001 0.003 T . . . -0.903 0.036 0.025 0.591 0.060 0.037 0.089 N c -0.992 -1.021 0.660 0.222 0.707 0.730 0 -0.084 0.130 -0.306 0.082 -0.250 0.090 0.000 0.063 0.003 0.074 2.701 0.048 . . . 0.0906 0.0191 0.0343 0.0561 0.0001 0.1708 0.1333 0.0949 0.0354 0.1087 0.0230 0.0286 0.0331 0 0.1697 0.1617 0.1171 het 1484.62 108 9 6986464 . G C 1484.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.054;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6299;MQ=58.77;MQ0=1;MQRankSum=-1.169;QD=13.75;ReadPosRankSum=1.530;VQSLOD=4.9187;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,55:108:99:1515,0,1427 9 7046901 7046901 C G exonic KDM4C nonsynonymous SNV KDM4C:NM_001304340:exon14:c.C1534G:p.Q512E,KDM4C:NM_001146695:exon16:c.C2299G:p.Q767E,KDM4C:NM_001146696:exon16:c.C2365G:p.Q789E,KDM4C:NM_001304339:exon16:c.C2299G:p.Q767E,KDM4C:NM_015061:exon16:c.C2299G:p.Q767E 0.23 0.025 0.27 0.29 0.17 0.45 0.2149 0.0491 0.3550 0.2745 0.1265 0.1735 0.1740 0.3962 0.13 0.053 0.18 0.15 0.28 rs1407856 . . . . . . . . . . . . . 0.412 0.200 T 0.055 0.213 B 0.057 0.248 B 0.001 0.416 N 0.194 0.373 P 1.68 0.433 L 2.55 0.138 T -0.99 0.307 N 0.031 0.159 -0.968 0.376 T 0.000 0.000 T . . . 1.066 0.196 11.03 0.896 0.183 0.684 0.335 D c -0.511 -0.395 0.904 0.261 0.707 0.730 0 2.53 0.295 2.197 0.421 -0.423 0.059 1.000 0.715 0.894 0.377 16.679 0.851 . . . 0.2191 0.0476 0.3467 0.1517 0.2743 0.1212 0.1757 0.1938 0.3892 0.1421 0.0572 0.3241 0.1722 0.2734 0.1239 0.1686 0.1823 het 761.48 64 9 7046901 . C G 761.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.850;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=58.98;MQ0=0;MQRankSum=1.983;QD=11.90;ReadPosRankSum=-1.686;VQSLOD=5.4196;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,29:64:99:791,0,994 9 7103816 7103816 C T exonic KDM4C synonymous SNV KDM4C:NM_001304340:exon16:c.C1791T:p.D597D,KDM4C:NM_001304339:exon18:c.C2556T:p.D852D,KDM4C:NM_015061:exon18:c.C2556T:p.D852D 0.57 0.62 0.63 0.71 0.42 0.47 0.5079 0.6096 0.6880 0.7640 0.5351 0.4362 0.4713 0.4647 0.49 0.6 0.43 0.52 0.39 rs3763651 COSM3763963;COSM3763962;COSM3763964 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5128 0.6045 0.6754 0.3229 0.7540 0.5416 0.4410 0.4672 0.4630 0.5141 0.5956 0.6328 0.3079 0.7569 0.5431 0.4343 0.4683 het 1676.19 130 9 7103816 . C T 1676.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.110;DP=130;Dels=0.00;FS=4.285;HRun=1;HaplotypeScore=1.7262;MQ=58.89;MQ0=0;MQRankSum=1.875;QD=12.89;ReadPosRankSum=0.599;VQSLOD=5.7182;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,59:130:99:1706,0,1919 9 7798518 7798518 G C exonic TMEM261 nonsynonymous SNV TMEM261:NM_001318059:exon2:c.C308G:p.T103R 0.91 0.91 0.98 0.83 0.97 0.9 0.9548 0.9324 0.9712 0.8486 0.9531 0.9789 0.9460 0.9172 0.97 0.94 0.98 0.87 . rs4742410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9548 0.9298 0.9696 0.9256 0.8506 0.9564 0.9825 0.9623 0.9161 0.9576 0.9359 0.9725 0.93 0.8403 0.9576 0.9822 0.9633 hom 3109.64 105 9 7798518 . G C 3109.64 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8877;MQ=56.52;MQ0=0;QD=29.62;VQSLOD=3.5781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3143,238,0 9 7799606 7799606 C A exonic TMEM261 synonymous SNV TMEM261:NM_001318058:exon1:c.G129T:p.L43L,TMEM261:NM_001318059:exon1:c.G129T:p.L43L,TMEM261:NM_033428:exon1:c.G129T:p.L43L 0.38 0.27 0.54 0.38 0.39 0.4 0.4091 0.2812 0.5485 0.3824 0.4223 0.4042 0.4065 0.4188 0.36 0.28 0.4 0.21 0.2 rs14059 COSM3763994 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4126 0.2708 0.5298 0.3356 0.3842 0.4255 0.4037 0.4201 0.4173 0.3715 0.2785 0.5107 0.3113 0.3609 0.4278 0.4056 0.3929 het 1031.78 77 9 7799606 . C A 1031.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.921;DP=77;Dels=0.00;FS=3.097;HRun=2;HaplotypeScore=0.7340;MQ=58.49;MQ0=0;MQRankSum=-0.942;QD=13.40;ReadPosRankSum=1.370;VQSLOD=5.2292;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,38:77:99:1062,0,1181 9 7799653 7799653 G T exonic TMEM261 nonsynonymous SNV TMEM261:NM_001318058:exon1:c.C82A:p.P28T,TMEM261:NM_001318059:exon1:c.C82A:p.P28T,TMEM261:NM_033428:exon1:c.C82A:p.P28T 0.37 0.26 0.54 0.37 0.39 0.39 0.4108 0.2851 0.5415 0.3754 0.4235 0.4060 0.4117 0.4271 0.35 0.28 0.39 0.27 0.19 rs1127430 COSM3750180 1(pancreas);1(thyroid);4(large_intestine) . . . . . . . . . . . 0.012 0.546 D 0.717 0.464 P 0.243 0.455 B 0.042 0.239 N 1 0.090 P 1.545 0.392 L 0.66 0.524 T -3.51 0.683 D 0.09 0.088 -0.903 0.477 T 0.000 0.000 T . . . 2.254 0.332 17.86 0.995 0.669 0.067 0.126 N c -0.319 -0.453 1.000 0.747 0.442 0.072 0 3.45 0.384 -0.232 0.090 0.862 0.376 0.000 0.063 0.012 0.117 8.651 0.330 . ENSG00000137038.7|ENSG00000137038.7|ENSG00000137038.7|ENSG00000137038.7|ENSG00000137038.7|ENSG00000137038.7 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Pancreas|Skin_Sun_Exposed_Lower_leg 0.4114 0.2726 0.5240 0.3370 0.3760 0.4264 0.4041 0.4191 0.4142 0.3705 0.2781 0.5072 0.3113 0.3538 0.4281 0.4049 0.3893 het 740.84 59 9 7799653 . G T 740.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.377;DP=59;Dels=0.00;FS=3.608;HRun=0;HaplotypeScore=0.7340;MQ=58.74;MQ0=0;MQRankSum=-1.517;QD=12.56;ReadPosRankSum=1.346;VQSLOD=4.3306;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,30:59:99:771,0,744 9 8389364 8389364 C G exonic PTPRD synonymous SNV PTPRD:NM_001171025:exon20:c.G3033C:p.G1011G,PTPRD:NM_130393:exon20:c.G3006C:p.G1002G,PTPRD:NM_001040712:exon21:c.G3024C:p.G1008G,PTPRD:NM_130391:exon22:c.G3033C:p.G1011G,PTPRD:NM_130392:exon22:c.G3036C:p.G1012G,PTPRD:NM_002839:exon37:c.G4254C:p.G1418G 0.56 0.62 0.45 0.63 0.44 0.59 0.4992 0.5841 0.4931 0.6598 0.4899 0.4499 0.5077 0.5682 0.48 0.58 0.44 0.62 0.44 rs2279776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4951 0.5856 0.4890 0.4616 0.6728 0.4904 0.4420 0.4812 0.5663 0.4920 0.5735 0.5072 0.5066 0.6897 0.4948 0.4231 0.4691 hom 4689.32 143 9 8389364 . C G 4689.32 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;QD=32.79;VQSLOD=8.8727;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4689,361,0 9 8518052 8518052 G C exonic PTPRD nonsynonymous SNV PTPRD:NM_001171025:exon8:c.C1309G:p.Q437E,PTPRD:NM_001040712:exon9:c.C1330G:p.Q444E,PTPRD:NM_130393:exon9:c.C1321G:p.Q441E,PTPRD:NM_130391:exon10:c.C1339G:p.Q447E,PTPRD:NM_130392:exon10:c.C1339G:p.Q447E,PTPRD:NM_002839:exon21:c.C1339G:p.Q447E 0.051 0.0015 0.05 0.12 0.035 0.062 0.0461 0.0070 0.0375 0.1287 0.0132 0.0423 0.0430 0.0624 0.032 0.0082 0.045 0.033 0.049 rs10977171 COSM150577;COSM3982949;COSM3982951;COSM3982947;COSM3982948;COSM3982950 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(soft_tissue) . . . . . . . . . . . 0.416 0.099 T 0.778 0.622 P 0.639 0.797 P 0.000 0.843 D 0.000 0.588 P 1.15 0.294 L -0.44 0.698 T -1.64 0.408 N 0.671 0.691 -1.022 0.229 T 0.007 0.025 T . . . 2.273 0.334 17.99 0.581 0.058 0.992 0.925 D c 0.358 0.395 1.000 0.747 0.706 0.609 0 5.31 0.750 10.003 0.997 0.902 0.416 1.000 0.715 0.993 0.574 18.979 0.927 Fibronectin type III|Immunoglobulin-like fold . . 0.0452 0.0075 0.0393 0.0112 0.1302 0.0131 0.0443 0.0376 0.0616 0.0324 0.0078 0.0418 0.0099 0.1306 0.0140 0.0410 0.0224 het 2507.17 218 9 8518052 . G C 2507.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.535;DP=218;Dels=0.00;FS=8.921;HRun=0;HaplotypeScore=1.8924;MQ=59.18;MQ0=0;MQRankSum=-1.305;QD=11.50;ReadPosRankSum=-0.241;VQSLOD=4.1074;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,96:218:99:2537,0,3494 9 8518143 8518143 T C exonic PTPRD synonymous SNV PTPRD:NM_001171025:exon8:c.A1218G:p.A406A,PTPRD:NM_001040712:exon9:c.A1239G:p.A413A,PTPRD:NM_130393:exon9:c.A1230G:p.A410A,PTPRD:NM_130391:exon10:c.A1248G:p.A416A,PTPRD:NM_130392:exon10:c.A1248G:p.A416A,PTPRD:NM_002839:exon21:c.A1248G:p.A416A 0.31 0.44 0.27 0.39 0.16 0.21 0.2170 0.3962 0.2649 0.3833 0.1386 0.1639 0.2181 0.2297 0.23 0.38 0.16 0.29 0.18 rs7026388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2133 0.3978 0.2595 0.1744 0.3856 0.1449 0.1601 0.1887 0.2323 0.2349 0.3983 0.2470 0.1656 0.3927 0.1408 0.1482 0.1990 het 3161.77 216 9 8518143 . T C 3161.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.223;DP=216;Dels=0.00;FS=0.510;HRun=0;HaplotypeScore=4.9625;MQ=59.57;MQ0=0;MQRankSum=-0.305;QD=14.64;ReadPosRankSum=-0.866;VQSLOD=5.3634;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,120:216:99:3192,0,2449 9 8518395 8518395 G A exonic PTPRD synonymous SNV PTPRD:NM_001171025:exon8:c.C966T:p.T322T,PTPRD:NM_001040712:exon9:c.C987T:p.T329T,PTPRD:NM_130393:exon9:c.C978T:p.T326T,PTPRD:NM_130391:exon10:c.C996T:p.T332T,PTPRD:NM_130392:exon10:c.C996T:p.T332T,PTPRD:NM_002839:exon21:c.C996T:p.T332T 0.18 0.21 0.16 0.28 0.1 0.12 0.1347 0.1790 0.1825 0.2680 0.0796 0.1066 0.1190 0.1397 0.13 0.17 0.1 0.17 0.11 rs3763653 COSM4419232;COSM4419233;COSM4419228;COSM4419229;COSM4419231;COSM4419230 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1333 0.1785 0.1796 0.0964 0.2680 0.0878 0.1060 0.1060 0.1318 0.1307 0.1763 0.1695 0.0960 0.2839 0.0782 0.0987 0.1286 het 882.38 81 9 8518395 . G A 882.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.422;DP=81;Dels=0.00;FS=3.075;HRun=0;HaplotypeScore=1.6624;MQ=60.00;MQ0=0;MQRankSum=0.687;QD=10.89;ReadPosRankSum=1.256;VQSLOD=6.1575;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:912,0,1207 9 13112116 13112116 A G exonic MPDZ synonymous SNV MPDZ:NM_001261407:exon41:c.T5445C:p.I1815I,MPDZ:NM_001261406:exon42:c.T5532C:p.I1844I,MPDZ:NM_003829:exon42:c.T5544C:p.I1848I,MPDZ:NM_001330637:exon43:c.T5631C:p.I1877I 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 0.9999 1 0.9999 1. 1. 1. 1. . rs10809904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1.0000 0.9998 1 0.9998 0.9998 0.9988 1 1 1 0.9999 1 hom 1160.87 38 9 13112116 . A G 1160.87 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.55;VQSLOD=13.5503;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:96.29:1194,96,0 9 14737506 14737506 T G exonic FREM1 nonsynonymous SNV FREM1:NM_001177704:exon14:c.A2036C:p.Q679P,FREM1:NM_144966:exon38:c.A6428C:p.Q2143P 0.73 0.76 0.74 0.78 0.77 0.62 0.7385 0.7872 0.7581 0.7778 0.6961 0.7477 0.7534 0.6547 0.75 0.79 0.73 0.78 . rs10961689 COSM4163661;COSM4163660 1(thyroid) Benign|Benign not_specified|Marles_Greenberg_Persaud_syndrome RCV000249478.1|RCV000314531.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1855425:248450:ORPHA2717 . . . . . . 0.314 0.138 T 0.001 0.112 B 0.004 0.093 B 0.195 0.167 N 1 0.090 P 0.835 0.211 L 2.35 0.162 T 0.09 0.268 N 0.215 0.264 -1.055 0.130 T 0.000 0.000 T . . . -0.075 0.087 1.924 0.783 0.118 0.110 0.162 N c -0.956 -0.962 0.000 0.050 0.554 0.246 0 -0.727 0.106 -0.576 0.059 0.052 0.162 0.000 0.063 0.051 0.165 2.125 0.035 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000147869.4|ENSG00000147869.4|ENSG00000175893.7 Artery_Aorta|Artery_Tibial|Colon_Transverse 0.7346 0.7891 0.7531 0.8300 0.7755 0.7004 0.7374 0.7503 0.6454 0.7421 0.7864 0.7661 0.83 0.7937 0.7086 0.7180 0.7037 het 504.27 37 9 14737506 . T G 504.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.407;DP=37;Dels=0.00;FS=1.271;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=0.107;QD=13.63;ReadPosRankSum=-0.874;VQSLOD=6.5280;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,21:37:99:534,0,422 9 14747412 14747412 A G exonic FREM1 synonymous SNV FREM1:NM_001177704:exon10:c.T1467C:p.V489V,FREM1:NM_144966:exon34:c.T5859C:p.V1953V 0.14 0.0076 0.22 0.18 0.18 0.16 0.1702 0.0358 0.1911 0.1835 0.2009 0.1840 0.1398 0.1623 0.15 0.042 0.19 0.076 . rs4741426 COSM3763837;COSM3763838 1(large_intestine) Benign|Likely benign not_specified|Marles_Greenberg_Persaud_syndrome RCV000244139.1|RCV000268325.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1855425:248450:ORPHA2717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1745 0.0332 0.1915 0.1489 0.1800 0.1950 0.1891 0.1738 0.1637 0.1518 0.0364 0.1695 0.1325 0.1758 0.1941 0.2048 0.1711 het 1109.83 102 9 14747412 . A G 1109.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.240;DP=102;Dels=0.00;FS=0.944;HRun=0;HaplotypeScore=0.9469;MQ=59.32;MQ0=0;MQRankSum=0.183;QD=10.88;ReadPosRankSum=-0.400;VQSLOD=6.8370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,43:102:99:1140,0,1697 9 14775853 14775853 A G exonic FREM1 synonymous SNV FREM1:NM_001177704:exon2:c.T399C:p.D133D,FREM1:NM_144966:exon26:c.T4791C:p.D1597D 0.85 0.79 0.87 0.85 0.88 0.86 0.8678 0.7946 0.8209 0.8701 0.9047 0.8834 0.87 0.8651 0.87 0.82 0.89 0.89 . rs1032474 . . Benign|Benign not_specified|Marles_Greenberg_Persaud_syndrome RCV000247594.1|RCV000354383.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1855425:248450:ORPHA2717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8701 0.7960 0.8335 0.8972 0.8698 0.9090 0.8818 0.8792 0.8664 0.8599 0.7957 0.8369 0.8974 0.8603 0.9158 0.8838 0.8737 hom 3686.41 118 9 14775853 . A G 3686.41 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3543;MQ=58.17;MQ0=0;QD=31.24;VQSLOD=8.5844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3685,325,0 9 14775859 14775859 G A exonic FREM1 synonymous SNV FREM1:NM_001177704:exon2:c.C393T:p.A131A,FREM1:NM_144966:exon26:c.C4785T:p.A1595A 0.42 0.29 0.44 0.33 0.58 0.49 0.5101 0.3289 0.3690 0.3188 0.6286 0.5792 0.5111 0.4889 0.52 0.36 0.59 0.4 . rs10733289 COSM4408966;COSM4408967 2(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Benign not_specified|Marles_Greenberg_Persaud_syndrome RCV000242610.1|RCV000400941.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1855425:248450:ORPHA2717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5072 0.3301 0.3808 0.5045 0.3213 0.6252 0.5807 0.5042 0.4868 0.5043 0.3403 0.4125 0.52 0.2990 0.6344 0.5940 0.5389 het 1682.88 133 9 14775859 . G A 1682.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.434;DP=133;Dels=0.00;FS=0.720;HRun=0;HaplotypeScore=4.1236;MQ=58.23;MQ0=0;MQRankSum=0.654;QD=12.65;ReadPosRankSum=0.180;VQSLOD=5.6623;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,62:133:99:1713,0,2003 9 14801687 14801687 T C exonic FREM1 synonymous SNV FREM1:NM_144966:exon21:c.A3657G:p.A1219A 0.18 0.033 0.19 0.23 0.23 0.25 0.2176 0.0589 0.2143 0.2300 0.2322 0.2319 0.1980 0.2450 0.18 0.061 0.23 0.13 . rs10738380 COSM3982781 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Marles_Greenberg_Persaud_syndrome RCV000242193.1|RCV000400335.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1855425:248450:ORPHA2717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2185 0.0558 0.2142 0.2251 0.2307 0.2258 0.2320 0.2179 0.2408 0.1870 0.0594 0.2165 0.1854 0.2201 0.2330 0.2441 0.2067 het 487.06 59 9 14801687 . T C 487.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DP=59;Dels=0.00;FS=4.308;HRun=0;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;MQRankSum=-2.011;QD=8.26;ReadPosRankSum=-0.569;VQSLOD=4.1805;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,23:59:99:517,0,978 9 14816829 14816829 G C exonic FREM1 nonsynonymous SNV FREM1:NM_144966:exon16:c.C2587G:p.L863V 0.13 0.17 0.079 0.15 0.098 0.14 0.2037 0.2181 0.2137 0.3016 0.1826 0.1970 0.1826 0.1820 0.13 0.14 0.12 0.17 . rs7041710 . . Benign|Benign not_specified|Marles_Greenberg_Persaud_syndrome RCV000175105.2|RCV000285020.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1855425:248450:ORPHA2717 . . . . . . 0.571 0.062 T 0.001 0.067 B 0.001 0.040 B 0.042 0.019 N 1 0.090 P -0.325 0.035 N 1.73 0.264 T -0.36 0.131 N 0.079 0.071 -1.022 0.230 T 0.000 0.000 T . . . -1.239 0.024 0.006 0.574 0.056 0.032 0.081 N c -1.413 -1.409 0.034 0.141 0.554 0.283 0 -4.39 0.033 -0.597 0.058 -0.593 0.044 0.000 0.063 0.562 0.282 7.078 0.242 . . . 0.1151 0.1545 0.0696 0.1010 0.1492 0.0922 0.1178 0.1143 0.1430 0.1282 0.1577 0.0537 0.0960 0.1441 0.0905 0.1238 0.1153 het 170.88 19 9 14816829 . G C 170.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.518;DP=19;Dels=0.00;FS=1.871;HRun=0;HaplotypeScore=0.9789;MQ=58.01;MQ0=0;MQRankSum=-0.372;QD=8.99;ReadPosRankSum=1.115;VQSLOD=4.5230;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,8:19:99:201,0,302 9 14824799 14824799 G A exonic FREM1 synonymous SNV FREM1:NM_144966:exon12:c.C2073T:p.S691S 0.15 0.22 0.082 0.17 0.099 0.15 0.1688 0.2302 0.1172 0.2208 0.1228 0.1611 0.1591 0.1786 0.14 0.18 0.12 0.21 . rs12236053 COSM4416002 2(haematopoietic_and_lymphoid_tissue) Likely benign Marles_Greenberg_Persaud_syndrome RCV000378533.1 MedGen:OMIM:Orphanet C1855425:248450:ORPHA2717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1209 0.1940 0.0730 0.1051 0.1753 0.0946 0.1169 0.1131 0.1474 0.1407 0.1974 0.0598 0.0960 0.1739 0.0904 0.1228 0.1184 het 151.18 14 9 14824799 . G A 151.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.202;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=-1.406;QD=10.80;ReadPosRankSum=-0.299;VQSLOD=5.9012;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:181,0,196 9 15784631 15784631 A G exonic CCDC171 nonsynonymous SNV CCDC171:NM_173550:exon21:c.A3206G:p.K1069R,CCDC171:NM_001348002:exon22:c.A2951G:p.K984R 0.47 0.54 0.37 0.37 0.47 0.57 0.4786 0.5534 0.2957 0.3516 0.4468 0.4953 0.4901 0.5700 0.52 0.56 0.5 0.51 0.54 rs1539172 COSM3982787;COSM3982786 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.063 B 0.000 0.629 N 1 0.090 P 0.255 0.098 N -0.34 0.685 T 0.01 0.069 N 0.181 0.221 -0.945 0.419 T 0.000 0.000 T . . . 0.911 0.181 10.14 0.103 0.001 0.176 0.197 N c -0.144 -0.023 0.000 0.060 0.638 0.428 0 4.13 0.475 3.443 0.524 0.125 0.212 1.000 0.715 0.998 0.697 7.667 0.274 . ENSG00000164989.11|ENSG00000164989.11|ENSG00000164989.11|ENSG00000164989.11|ENSG00000164989.11|ENSG00000164989.11|ENSG00000164989.11|ENSG00000164989.11|ENSG00000164989.11|ENSG00000164989.11|ENSG00000164989.11|ENSG00000164989.11 Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.4658 0.5534 0.3030 0.4630 0.3492 0.4486 0.4959 0.4779 0.5673 0.5001 0.5579 0.3525 0.5132 0.3259 0.4558 0.5046 0.4816 het 833.75 59 9 15784631 . A G 833.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.137;DP=59;Dels=0.00;FS=9.379;HRun=0;HaplotypeScore=2.6613;MQ=58.06;MQ0=0;MQRankSum=0.161;QD=14.13;ReadPosRankSum=0.253;VQSLOD=4.5782;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,34:59:99:864,0,646 9 17135115 17135115 C T exonic CNTLN synonymous SNV CNTLN:NM_001114395:exon1:c.C52T:p.L18L,CNTLN:NM_001286984:exon1:c.C52T:p.L18L,CNTLN:NM_001286985:exon1:c.C52T:p.L18L,CNTLN:NM_017738:exon1:c.C52T:p.L18L 0.13 0.064 0.15 0.15 0.24 0.075 0.2378 0.1109 0.1245 0.2026 0.2582 0.3003 0.2823 0.1286 0.22 0.099 0.27 0.13 0.26 rs41306071 COSM5831033;COSM455715;COSM3763849 1(urinary_tract);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2081 0.0903 0.1096 0.2726 0.1782 0.2085 0.2790 0.2320 0.1164 0.1997 0.1062 0.1340 0.2848 0.1782 0.1962 0.2582 0.2169 het 157.15 15 9 17135115 . C T 157.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.099;DP=15;Dels=0.00;FS=5.497;HRun=1;HaplotypeScore=0.9867;MQ=60.00;MQ0=0;MQRankSum=-0.289;QD=10.48;ReadPosRankSum=-0.405;VQSLOD=4.8789;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,7:15:99:187,0,260 9 17273731 17273731 A G exonic CNTLN nonsynonymous SNV CNTLN:NM_001114395:exon6:c.A850G:p.T284A,CNTLN:NM_017738:exon6:c.A850G:p.T284A 0.33 0.33 0.24 0.35 0.29 0.44 0.2989 0.3296 0.2316 0.3127 0.2411 0.2793 0.3144 0.4334 0.28 0.31 0.27 0.37 0.25 rs3808795 COSM3982788;COSM3982789 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.186 P -1.445 0.006 N 2.79 0.112 T -0.02 0.132 N 0.007 0.000 -0.906 0.473 T 0.000 0.000 T . . . 0.207 0.114 4.752 0.327 0.019 0.025 0.069 N c -0.869 -0.688 0.000 0.054 0.615 0.372 0 2.17 0.266 0.931 0.283 -0.391 0.064 0.682 0.282 0.849 0.354 5.281 0.149 . ENSG00000044459.10|ENSG00000044459.10|ENSG00000044459.10|ENSG00000044459.10|ENSG00000044459.10|ENSG00000044459.10|ENSG00000044459.10|ENSG00000044459.10|ENSG00000044459.10|ENSG00000044459.10|ENSG00000044459.10|ENSG00000044459.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Pancreas|Thyroid 0.2890 0.3230 0.2364 0.3689 0.3092 0.2405 0.2715 0.2877 0.4030 0.2864 0.3218 0.2297 0.3344 0.2874 0.2589 0.2756 0.2654 het 1620.13 132 9 17273731 . A G 1620.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.518;DP=132;Dels=0.00;FS=5.583;HRun=1;HaplotypeScore=0.0000;MQ=58.37;MQ0=1;MQRankSum=-1.388;QD=12.27;ReadPosRankSum=-0.460;VQSLOD=4.6035;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,60:132:99:1650,0,1757 9 17342383 17342383 C T exonic CNTLN synonymous SNV CNTLN:NM_017738:exon12:c.C1827T:p.D609D 0.95 0.82 0.99 1. 1. 1. 0.9865 0.8474 0.9913 1 1 0.9996 0.9956 0.9998 0.95 0.84 1. 0.91 0.69 rs1442527 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9887 0.8431 0.9917 0.9999 1 1 0.9995 0.9938 0.9998 0.9566 0.8489 0.9881 1 1 1 0.9997 0.9898 hom 2205.68 78 9 17342383 . C T 2205.68 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;QD=28.28;VQSLOD=8.6091;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2239,169,0 9 17394536 17394536 C T exonic CNTLN nonsynonymous SNV CNTLN:NM_017738:exon15:c.C2084T:p.T695I 0.78 0.67 0.83 0.83 0.87 0.75 0.8284 0.6960 0.7505 0.8115 0.9025 0.8720 0.8345 0.7574 0.82 0.7 0.88 0.73 0.45 rs7035276 COSM5021579;COSM5021580 1(bone) . . . . . . . . . . . 0.289 0.150 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.995 0.002 N 2.31 0.168 T -1.34 0.334 N 0.017 0.003 -1.041 0.169 T 0.000 0.000 T . . . 0.553 0.147 7.825 0.891 0.179 0.108 0.160 N c -1.055 -0.820 0.685 0.225 0.615 0.372 0 1.24 0.203 0.366 0.200 -0.201 0.102 0.736 0.287 0.968 0.456 1.326 0.020 . . . 0.8298 0.6910 0.7726 0.8519 0.8084 0.9001 0.8726 0.8381 0.7388 0.8225 0.7061 0.7835 0.8543 0.8085 0.9087 0.8706 0.8617 hom 299.74 13 9 17394536 . C T 299.74 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.06;VQSLOD=12.8575;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:24.08:333,24,0 9 17394996 17394996 T C exonic CNTLN synonymous SNV CNTLN:NM_017738:exon15:c.T2544C:p.H848H 0.84 0.75 0.85 0.83 0.92 0.89 0.8799 0.7749 0.7791 0.8155 0.9339 0.9175 0.8967 0.8720 0.87 0.79 0.91 0.78 0.95 rs3739489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8779 0.7716 0.7908 0.9175 0.8110 0.9304 0.9167 0.8896 0.8700 0.8741 0.7842 0.8174 0.9172 0.8118 0.9356 0.9188 0.9083 hom 2266.40 68 9 17394996 . T C 2266.40 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=57.94;MQ0=0;QD=33.33;VQSLOD=9.0022;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2299,184,0 9 17409366 17409366 G A exonic CNTLN synonymous SNV CNTLN:NM_017738:exon16:c.G2691A:p.T897T 0.84 0.76 0.85 0.83 0.92 0.86 0.8747 0.7781 0.7799 0.8148 0.9280 0.9131 0.8944 0.8525 0.87 0.78 0.91 0.79 0.94 rs2780211 COSM3982792 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8730 0.7725 0.7916 0.9091 0.8103 0.9239 0.9134 0.8861 0.8495 0.8734 0.7863 0.8158 0.9139 0.8100 0.9313 0.9179 0.9020 hom 4790.38 157 9 17409366 . G A 4790.38 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8653;MQ=59.07;MQ0=0;QD=30.51;VQSLOD=7.8697;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4790,364,0 9 18504916 18504916 T A exonic ADAMTSL1 synonymous SNV ADAMTSL1:NM_001040272:exon2:c.T153A:p.G51G,ADAMTSL1:NM_052866:exon2:c.T153A:p.G51G 0.57 0.67 0.54 0.44 0.58 0.58 0.5617 0.6639 0.5556 0.4642 0.5012 0.5606 0.5355 0.5822 0.59 0.65 0.56 0.5 0.53 rs2277160 COSM4407063;COSM4407065;COSM4407064 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5576 0.6678 0.5612 0.5735 0.4665 0.4988 0.5600 0.5463 0.5793 0.5733 0.6478 0.5477 0.5795 0.4612 0.4954 0.5639 0.5369 hom 1697.44 51 9 18504916 . T A 1697.44 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=33.28;VQSLOD=9.2566;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:51:99:1730,135,0 9 18681821 18681821 A G exonic ADAMTSL1 synonymous SNV ADAMTSL1:NM_001040272:exon12:c.A1353G:p.T451T,ADAMTSL1:NM_052866:exon12:c.A1353G:p.T451T 0.28 0.12 0.31 0.27 0.42 0.32 0.3574 0.1597 0.2520 0.2778 0.3684 0.4263 0.3811 0.3134 0.33 0.17 0.41 0.25 0.46 rs13293151 COSM3982794;COSM3982793 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3556 0.1552 0.2575 0.4726 0.2759 0.3681 0.4219 0.3905 0.3144 0.3243 0.1641 0.2548 0.49 0.2617 0.3604 0.4120 0.3949 het 2886.13 249 9 18681821 . A G 2886.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.738;DP=249;DS;Dels=0.00;FS=4.122;HRun=0;HaplotypeScore=5.8491;MQ=58.93;MQ0=0;MQRankSum=1.448;QD=11.59;ReadPosRankSum=-0.454;VQSLOD=4.8996;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,117:249:99:2916,0,3675 9 18775810 18775810 C A exonic ADAMTSL1 nonsynonymous SNV ADAMTSL1:NM_001040272:exon18:c.C2467A:p.L823I 0.44 0.37 0.35 0.46 0.46 0.55 0.5014 0.3992 0.4004 0.4869 0.5985 0.5089 0.5327 0.5612 0.45 0.38 0.48 0.47 . rs934472 COSM3763850 1(urinary_tract);1(liver);1(large_intestine) . . . . . . . . . . . 0.45 0.090 T 0.0 0.026 B 0.001 0.040 B 1.000 0.080 U 1 0.090 P 0.74 0.190 N -0.0 0.626 T -0.1 0.085 N 0.015 0.002 -0.955 0.401 T 0.000 0.000 T . . . -0.179 0.078 1.213 0.449 0.034 0.032 0.081 N c -1.150 -1.163 0.501 0.209 0.706 0.609 0 1.61 0.226 -0.136 0.103 -0.435 0.058 0.000 0.063 0.027 0.143 7.622 0.272 . . . 0.4761 0.3676 0.3647 0.4377 0.4619 0.6003 0.4866 0.4723 0.5439 0.4752 0.3709 0.3684 0.4371 0.4831 0.6131 0.5086 0.4857 hom 591.49 20 9 18775810 . C A 591.49 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.84;MQ0=0;QD=29.57;VQSLOD=8.5492;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:51.15:624,51,0 9 18777196 18777196 A C exonic ADAMTSL1 nonsynonymous SNV ADAMTSL1:NM_001040272:exon19:c.A2969C:p.E990A 0.091 0.011 0.075 0.12 0.14 0.13 0.1375 0.0335 0.0776 0.1284 0.1947 0.1594 0.1667 0.1307 0.12 0.038 0.15 0.054 . rs41268983 COSM1737822 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . 0.453 0.089 T 0.952 0.522 P 0.53 0.467 P 0.575 0.055 N 0.006 0.421 P 0.205 0.094 N -0.04 0.633 T -1.16 0.297 N 0.247 0.302 -1.057 0.125 T 0.001 0.005 T . . . 1.265 0.217 12.09 0.965 0.296 0.978 0.770 D c 0.224 0.335 1.000 0.747 0.707 0.730 0 5.75 0.904 5.986 0.700 1.112 0.879 1.000 0.715 0.953 0.430 16.049 0.805 . . . 0.1355 0.0304 0.0779 0.0907 0.1245 0.1953 0.1617 0.1342 0.1327 0.1274 0.0379 0.0692 0.0828 0.1300 0.2084 0.1622 0.1636 het 523.17 44 9 18777196 . A C 523.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.074;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7791;MQ=58.95;MQ0=0;MQRankSum=0.207;QD=11.89;ReadPosRankSum=-0.182;VQSLOD=5.9093;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,21:44:99:553,0,632 9 18777422 18777422 G A exonic ADAMTSL1 synonymous SNV ADAMTSL1:NM_001040272:exon19:c.G3195A:p.L1065L 0.1 0.014 0.081 0.12 0.17 0.13 0.1958 0.0513 0.1130 0.1679 0.2623 0.2315 0.2132 0.1610 0.15 0.045 0.2 0.076 . rs45579937 COSM455734 1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1569 0.0359 0.0846 0.1220 0.1227 0.2138 0.1967 0.1527 0.1430 0.1480 0.0464 0.0788 0.1291 0.1273 0.2242 0.1934 0.1875 het 136.02 13 9 18777422 . G A 136.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.369;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.811;QD=10.46;ReadPosRankSum=1.656;VQSLOD=10.6060;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,7:13:99:166,0,166 9 18829952 18829952 A G exonic ADAMTSL1 nonsynonymous SNV ADAMTSL1:NM_001040272:exon23:c.A4226G:p.D1409G 0.11 0.013 0.2 0.014 0.25 0.13 0.2162 0.0438 0.2265 0.0169 0.3099 0.2635 0.2425 0.1682 0.18 0.043 0.24 0.098 . rs41304755 COSM4406909 1(breast);2(liver) . . . . . . . . . . . 0.255 0.176 T 0.137 0.280 B 0.085 0.282 B 0.039 0.242 N 0.889 0.288 P 1.05 0.269 L -0.24 0.668 T -0.73 0.389 N 0.426 0.482 -1.076 0.081 T 0.000 0.000 T . . . 2.522 0.364 19.61 0.990 0.505 0.570 0.300 D c -0.034 0.133 1.000 0.747 0.675 0.548 0 4.48 0.538 2.603 0.457 1.199 0.960 1.000 0.715 1.000 0.888 6.098 0.191 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.1989 0.0363 0.1873 0.2745 0.0133 0.2933 0.2387 0.2296 0.1544 0.1877 0.0448 0.1830 0.2914 0.0111 0.2907 0.2633 0.2047 het 490.06 30 9 18829952 . A G 490.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9025;MQ=60.00;MQ0=0;MQRankSum=-0.795;QD=16.34;ReadPosRankSum=-0.460;VQSLOD=5.6100;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,17:30:99:520,0,373 9 18950787 18950787 G A exonic SAXO1 nonsynonymous SNV SAXO1:NM_001287050:exon2:c.C187T:p.P63S,SAXO1:NM_153707:exon2:c.C187T:p.P63S 0.76 0.91 0.7 0.57 0.77 0.78 0.7581 0.8931 0.6616 0.5582 0.7156 0.7746 0.7368 0.7967 0.82 0.89 0.78 0.71 0.72 rs6475273 COSM1685399 1(liver);1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.934 0.084 N 1 0.090 P -1.735 0.003 N 1.64 0.278 T 0.81 0.018 N 0.029 0.010 -0.983 0.342 T 0.000 0.000 T . . . -1.363 0.020 0.004 0.153 0.004 0.005 0.023 N c -1.463 -1.395 0.000 0.064 0.487 0.133 0 -0.118 0.128 -0.407 0.072 0.168 0.246 0.000 0.063 0.019 0.132 1.393 0.021 . . . 0.7517 0.8959 0.6786 0.8267 0.5584 0.7035 0.7739 0.7676 0.7961 0.7820 0.8942 0.7112 0.8477 0.5805 0.6987 0.7603 0.7834 het 2754.58 244 9 18950787 . G A 2754.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.497;DP=244;DS;Dels=0.00;FS=1.578;HRun=0;HaplotypeScore=8.1695;MQ=59.05;MQ0=0;MQRankSum=-0.097;QD=11.29;ReadPosRankSum=0.727;VQSLOD=4.6676;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,111:244:99:2785,0,3284 9 18950895 18950895 T C exonic SAXO1 nonsynonymous SNV SAXO1:NM_001287050:exon2:c.A79G:p.K27E,SAXO1:NM_153707:exon2:c.A79G:p.K27E 0.48 0.13 0.59 0.52 0.69 0.61 0.6145 0.2017 0.5879 0.5133 0.6298 0.6886 0.5927 0.6414 0.54 0.22 0.7 0.36 0.59 rs7021572 COSM3763852 1(liver);1(large_intestine) . . . . . . . . . . . 0.065 0.363 T 0.084 0.233 B 0.069 0.263 B 0.119 0.191 N 0.995 0.588 P 2.025 0.556 M 1.62 0.282 T -1.01 0.266 N 0.052 0.034 -1.007 0.278 T 0.000 0.000 T . . . 2.918 0.411 21.9 0.988 0.452 0.580 0.303 D c -0.502 -0.379 0.000 0.064 0.487 0.133 0 0.28 0.149 0.827 0.269 0.076 0.183 0.983 0.354 0.999 0.750 7.766 0.280 . . . 0.6216 0.1940 0.6008 0.7461 0.5117 0.6178 0.6871 0.6453 0.6398 0.5320 0.2095 0.6065 0.7616 0.5367 0.6174 0.6808 0.6732 het 2458.58 170 9 18950895 . T C 2458.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.400;DP=170;Dels=0.00;FS=6.930;HRun=0;HaplotypeScore=3.7569;MQ=58.41;MQ0=0;MQRankSum=0.661;QD=14.46;ReadPosRankSum=0.285;VQSLOD=4.9393;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,93:170:99:2489,0,1898 9 19063108 19063108 T C exonic HAUS6 synonymous SNV HAUS6:NM_001270890:exon14:c.A1422G:p.L474L,HAUS6:NM_017645:exon14:c.A1527G:p.L509L 0.35 0.17 0.4 0.38 0.45 0.43 0.4218 0.1984 0.4359 0.3555 0.4894 0.4584 0.3675 0.4145 0.37 0.2 0.46 0.28 0.35 rs13302748 COSM4415858 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4260 0.1919 0.4372 0.4930 0.3593 0.4780 0.4533 0.4452 0.4060 0.3833 0.1983 0.4305 0.54 0.3654 0.4845 0.4589 0.4562 hom 3474.16 105 9 19063108 . T C 3474.16 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=48.60;MQ0=0;QD=33.09;VQSLOD=5.0052;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,104:105:99:3435,277,0 9 19076673 19076673 G C exonic HAUS6 synonymous SNV HAUS6:NM_001270890:exon11:c.C1116G:p.P372P,HAUS6:NM_017645:exon11:c.C1221G:p.P407P 0.36 0.22 0.4 0.37 0.45 0.43 0.4232 0.2372 0.4334 0.3513 0.4880 0.4567 0.3670 0.4121 0.38 0.24 0.45 0.28 0.29 rs13286328 COSM3982799 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4267 0.2304 0.4361 0.4922 0.3539 0.4772 0.4516 0.4432 0.4039 0.3947 0.2357 0.4388 0.5397 0.3717 0.4854 0.4588 0.4600 hom 1984.76 74 9 19076673 . G C 1984.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.973;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9598;MQ=54.43;MQ0=1;MQRankSum=1.637;QD=26.82;ReadPosRankSum=0.261;VQSLOD=3.1026;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,72:74:99:2018,144,0 9 19576949 19576949 T G exonic SLC24A2 synonymous SNV SLC24A2:NM_001193288:exon4:c.A1150C:p.R384R,SLC24A2:NM_020344:exon5:c.A1201C:p.R401R 0.87 0.78 0.85 1. 0.78 0.94 0.8410 0.7751 0.9056 0.9997 0.8571 0.7945 0.8359 0.9356 0.79 0.79 0.79 0.9 0.77 rs2383101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8426 0.7689 0.8948 0.7410 0.9997 0.8611 0.7937 0.8147 0.9350 0.8142 0.7637 0.8640 0.7020 1 0.8628 0.8100 0.8388 het 2382.79 219 9 19576949 . T G 2382.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.790;DP=219;Dels=0.00;FS=3.099;HRun=0;HaplotypeScore=5.4456;MQ=59.38;MQ0=0;MQRankSum=0.039;QD=10.88;ReadPosRankSum=1.491;VQSLOD=4.8387;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,106:219:99:2413,0,2974 9 19622268 19622268 T C exonic SLC24A2 synonymous SNV SLC24A2:NM_001193288:exon2:c.A960G:p.P320P,SLC24A2:NM_020344:exon2:c.A960G:p.P320P 0.78 0.75 0.82 0.87 0.72 0.77 0.7604 0.7614 0.8483 0.8717 0.7649 0.7263 0.7528 0.7769 0.73 0.76 0.72 0.7 0.67 rs4977308 COSM4408634 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7636 0.7588 0.8346 0.7136 0.8754 0.7661 0.7277 0.7256 0.7771 0.7583 0.7599 0.8098 0.7020 0.8728 0.7617 0.7436 0.7418 het 1307.79 100 9 19622268 . T C 1307.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.143;DP=100;Dels=0.00;FS=0.746;HRun=0;HaplotypeScore=1.4679;MQ=59.44;MQ0=0;MQRankSum=0.594;QD=13.08;ReadPosRankSum=-0.826;VQSLOD=6.7740;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,54:100:99:1338,0,1171 9 20866974 20866974 C G exonic FOCAD nonsynonymous SNV FOCAD:NM_017794:exon20:c.C2153G:p.T718S 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.92 rs7875872 COSM4590891 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2717.90 92 9 20866974 . C G 2717.90 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7791;MQ=57.10;MQ0=0;QD=29.54;VQSLOD=5.3940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2751,208,0 9 20953049 20953049 A G exonic FOCAD nonsynonymous SNV FOCAD:NM_017794:exon37:c.A4117G:p.T1373A 0.34 0.24 0.27 0.44 0.4 0.34 0.3825 0.2768 0.2098 0.4479 0.3945 0.4258 0.3687 0.3562 0.37 0.29 0.42 0.36 0.37 rs3206852 COSM150587 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.345 0.125 T 0.0 0.026 B 0.001 0.040 B 0.008 0.310 N 0.996 0.231 P 1.25 0.319 L 1.98 0.219 T -0.51 0.160 N 0.045 0.025 -0.911 0.467 T 0.000 0.000 T . . . 1.437 0.236 12.98 0.958 0.273 0.480 0.279 N c -0.215 -0.044 0.993 0.331 0.706 0.609 0 3.73 0.418 1.813 0.384 1.199 0.960 1.000 0.715 0.998 0.697 2.431 0.042 Armadillo-type fold ENSG00000188921.12|ENSG00000188921.12|ENSG00000188921.12|ENSG00000188921.12 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.3745 0.2652 0.2310 0.4215 0.4545 0.3865 0.4181 0.3616 0.3604 0.3720 0.2775 0.2512 0.45 0.4746 0.3759 0.4197 0.3791 hom 1751.66 52 9 20953049 . A G 1751.66 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.69;VQSLOD=14.6366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1785,138,0 9 20988426 20988426 A G exonic FOCAD nonsynonymous SNV FOCAD:NM_017794:exon43:c.A5002G:p.K1668E 0.77 0.79 0.72 0.94 0.71 0.65 0.7424 0.7929 0.6834 0.9410 0.7479 0.7359 0.7373 0.6728 0.74 0.79 0.72 0.83 0.72 rs4977881 . . Benign not_specified RCV000455149.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1.000 0.090 P -2.105 0.002 N 2.4 0.156 T 0.8 0.019 N 0.226 0.277 -0.972 0.367 T 0.000 0.000 T . . . 0.694 0.160 8.786 0.296 0.016 0.036 0.087 N c -0.860 -0.587 1.000 0.517 0.732 0.924 0 5.26 0.734 1.639 0.366 -0.232 0.094 0.963 0.335 0.257 0.229 12.809 0.568 . . . 0.7415 0.7918 0.7087 0.7515 0.9475 0.7403 0.7306 0.7238 0.6751 0.7603 0.7967 0.7005 0.7649 0.9637 0.7305 0.7299 0.7238 hom 1614.26 51 9 20988426 . A G 1614.26 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.55;MQ0=0;QD=31.65;VQSLOD=9.6321;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1647,129,0 9 21077716 21077716 G A exonic IFNB1 synonymous SNV IFNB1:NM_002176:exon1:c.C153T:p.Y51Y 0.33 0.4 0.26 0.32 0.36 0.26 0.3300 0.3715 0.2258 0.3404 0.4365 0.3469 0.3447 0.2595 0.34 0.37 0.33 0.28 0.33 rs1051922 COSM3982803 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3280 0.3757 0.2544 0.3142 0.3413 0.4339 0.3415 0.3227 0.2570 0.3697 0.3745 0.2698 0.3046 0.3041 0.4339 0.3658 0.3694 het 1478.80 101 9 21077716 . G A 1478.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.349;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5074;MQ=59.40;MQ0=0;MQRankSum=1.420;QD=14.64;ReadPosRankSum=-0.062;VQSLOD=4.7094;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,56:101:99:1509,0,1210 9 21970916 21970916 C T exonic CDKN2A nonsynonymous SNV CDKN2A:NM_000077:exon2:c.G442A:p.A148T,CDKN2A:NM_001195132:exon2:c.G442A:p.A148T 0.007 . 0.014 . 0.025 . 0.0228 0.0042 0.0141 0 0.0058 0.0352 0.0226 0.0093 0.022 0.0039 0.032 0.011 0.025 rs3731249 COSM3774362;COSM3774361;COSM3736958 1(kidney);1(pancreas);1(skin) Uncertain significance\x2cBenign|Benign|Benign|Benign|Benign Hereditary_cutaneous_melanoma\x2cnot_provided|not_specified|Hereditary_cutaneous_melanoma|Hereditary_cancer-predisposing_syndrome|Melanoma-pancreatic_cancer_syndrome RCV000466987.1\x2cRCV000034482.3|RCV000078114.6|RCV000119155.4|RCV000157755.3|RCV000412408.1 MedGen\x2cMedGen|MedGen|MedGen|MedGen:SNOMED_CT|MedGen:OMIM:Orphanet C1512419\x2cCN221809|CN169374|C1512419|C0027672:699346009|C1838547:606719:ORPHA404560 . . . . . . 0.003 0.682 D 0.487 0.350 P 0.007 0.121 B . . . 1 0.090 N 2.305 0.662 M -0.92 0.789 T -0.86 0.548 N 0.095 0.512 -1.045 0.159 T 0.087 0.338 T . . . 3.138 0.437 22.6 0.979 0.362 0.160 0.190 N c -0.800 -0.877 1.000 0.473 0.610 0.352 0 1.06 0.193 0.153 0.160 0.789 0.320 0.000 0.063 0.002 0.062 6.166 0.195 Ankyrin repeat-containing domain . . 0.0209 0.0034 0.0159 0.0293 0 0.0058 0.0330 0.0266 0.0102 0.0186 0.0044 0.0203 0.0199 0 0.0069 0.0314 0.0194 het 772.82 80 9 21970916 . C T 772.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.313;DP=80;Dels=0.00;FS=4.592;HRun=0;HaplotypeScore=2.1500;MQ=58.95;MQ0=0;MQRankSum=-0.245;QD=9.66;ReadPosRankSum=0.325;VQSLOD=5.7322;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,32:80:99:803,0,1100 9 25677933 25677933 T C exonic TUSC1 synonymous SNV TUSC1:NM_001004125:exon1:c.A387G:p.A129A 0.43 0.49 0.44 0.27 0.58 0.33 0.5014 0.5328 0.4350 0.3617 0.5914 0.5953 0.5648 0.3771 0.56 0.52 0.58 0.17 0.066 rs35110225 COSM3750169 2(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4739 0.4806 0.4069 0.5549 0.3208 0.4983 0.5610 0.5 0.3649 0.5177 0.4791 0.4833 0.5633 0.2989 0.5158 0.5645 0.5286 het 176.40 16 9 25677933 . T C 176.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.096;DP=16;Dels=0.00;FS=9.890;HRun=0;HaplotypeScore=0.9159;MQ=58.55;MQ0=0;MQRankSum=-1.791;QD=11.03;ReadPosRankSum=0.428;VQSLOD=3.5173;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,8:16:99:206,0,190 9 25677953 25677953 T C exonic TUSC1 nonsynonymous SNV TUSC1:NM_001004125:exon1:c.A367G:p.N123D 0.92 0.99 0.82 0.84 0.93 0.94 0.9222 0.9863 0.7723 0.8698 0.9333 0.9324 0.9430 0.9328 0.96 0.99 0.94 0.32 0.082 rs34498078 COSM3750170 9(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.874 0.088 N 1 0.090 P -1.445 0.006 N 1.02 0.407 T 1.36 0.009 N 0.017 0.003 -1.004 0.287 T 0.000 0.000 T . . . -0.777 0.041 0.048 0.624 0.068 0.001 0.007 N c -1.372 -1.262 1.000 0.747 0.554 0.246 0 2.81 0.318 0.380 0.202 -0.121 0.113 0.020 0.195 0.007 0.100 4.78 0.125 . . . 0.9033 0.9873 0.7669 0.9222 0.8847 0.9334 0.9377 0.9033 0.9314 0.9449 0.9858 0.8134 0.9433 0.8846 0.9309 0.9389 0.9358 hom 403.45 13 9 25677953 . T C 403.45 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.03;VQSLOD=13.3624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:39.10:436,39,0 9 27183463 27183463 A C exonic TEK nonsynonymous SNV TEK:NM_001290078:exon6:c.A596C:p.Q199P,TEK:NM_001290077:exon7:c.A908C:p.Q303P,TEK:NM_000459:exon8:c.A1037C:p.Q346P 0.99 1. 0.99 1. 0.97 1. 0.9733 0.9936 0.9911 0.9999 0.9711 0.9607 0.9824 0.9850 0.97 0.99 0.96 0.99 0.94 rs682632 . . . . . . . . . . . . . 0.411 0.108 T 0.0 0.026 B 0.0 0.013 B 0.006 0.322 N 1.000 0.216 P -0.345 0.033 N -0.81 0.740 T 1.56 0.011 N 0.181 0.533 -0.934 0.436 T 0.000 0.000 T . . . 1.658 0.260 14.17 0.924 0.213 0.003 0.014 N c -0.744 -0.503 1.000 0.747 0.722 0.854 0 5.52 0.821 1.306 0.329 0.056 0.163 0.531 0.270 0.985 0.512 13.325 0.597 Immunoglobulin-like fold . . 0.9743 0.9941 0.9888 0.9829 0.9999 0.9729 0.9599 0.9766 0.9840 0.9758 0.9924 0.9905 0.9834 1 0.9720 0.9639 0.9674 hom 7293.45 241 9 27183463 . A C 7293.45 Mask AC=2;AF=1.00;AN=2;DP=241;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8052;MQ=59.00;MQ0=0;QD=30.26;VQSLOD=8.6175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,240:241:99:7253,569,0 9 27202870 27202870 A G exonic TEK synonymous SNV TEK:NM_001290078:exon11:c.A1521G:p.S507S,TEK:NM_001290077:exon12:c.A1833G:p.S611S,TEK:NM_000459:exon13:c.A1962G:p.S654S 0.41 0.33 0.51 0.4 0.48 0.4 0.4649 0.3622 0.5386 0.4000 0.6333 0.4810 0.4879 0.3780 0.45 0.38 0.48 0.39 0.54 rs639225 COSM3763867;COSM3763868 1(large_intestine) Benign Multiple_Cutaneous_and_Mucosal_Venous_Malformations RCV000366679.1 MedGen:OMIM:Orphanet C1838437:600195:ORPHA2451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4712 0.3616 0.5328 0.3856 0.3924 0.6271 0.4803 0.4812 0.3822 0.4777 0.3685 0.5024 0.4033 0.4114 0.6298 0.5107 0.5132 het 1854.04 160 9 27202870 . A G 1854.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.160;DP=160;Dels=0.00;FS=1.263;HRun=1;HaplotypeScore=3.6771;MQ=59.07;MQ0=0;MQRankSum=0.660;QD=11.59;ReadPosRankSum=0.718;VQSLOD=6.3715;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,81:160:99:1884,0,2048 9 27205021 27205021 G A exonic TEK synonymous SNV TEK:NM_001290078:exon12:c.G1881A:p.R627R,TEK:NM_001290077:exon13:c.G2193A:p.R731R,TEK:NM_000459:exon14:c.G2322A:p.R774R 0.15 0.076 0.16 0.12 0.25 0.17 0.2114 0.1054 0.0949 0.1213 0.3383 0.2587 0.2236 0.1638 0.21 0.12 0.26 0.16 0.2 rs542913 . . Benign Multiple_Cutaneous_and_Mucosal_Venous_Malformations RCV000323672.1 MedGen:OMIM:Orphanet C1838437:600195:ORPHA2451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2110 0.1059 0.1037 0.1875 0.1187 0.3396 0.2596 0.2210 0.1688 0.2219 0.1082 0.1420 0.2185 0.1123 0.3393 0.2753 0.2510 het 2210.47 140 9 27205021 . G A 2210.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.951;DP=140;Dels=0.00;FS=3.798;HRun=0;HaplotypeScore=1.9654;MQ=59.40;MQ0=0;MQRankSum=-0.111;QD=15.79;ReadPosRankSum=-1.184;VQSLOD=6.0586;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,71:140:99:2240,0,1829 9 27524731 27524731 A G exonic IFNK nonsynonymous SNV IFNK:NM_020124:exon1:c.A397G:p.K133E 0.93 0.8 0.98 1. 0.99 0.96 0.9706 0.8027 0.9822 0.9976 0.9998 0.9927 0.9703 0.9532 0.92 0.8 0.99 0.88 0.9 rs700785 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.503 0.119 N 1 0.090 P -1.7 0.004 N 4.03 0.032 T 0.61 0.025 N 0.02 0.004 -1.010 0.269 T 0.000 0.000 T . . . -2.074 0.007 0.001 0.542 0.050 0.003 0.014 N c -1.983 -1.830 1.000 0.458 0.487 0.133 0 1.2 0.201 -0.083 0.112 -0.301 0.081 0.000 0.063 0.241 0.226 10.719 0.450 Four-helical cytokine\x2c core|Four-helical cytokine-like\x2c core . . 0.9746 0.8005 0.9812 0.9941 0.9972 0.9999 0.9924 0.9763 0.9522 0.9385 0.7975 0.9749 0.9934 0.9957 0.9997 0.9936 0.9868 hom 5564.92 166 9 27524731 . A G 5564.92 Mask AC=2;AF=1.00;AN=2;DP=166;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.02;MQ0=0;QD=33.52;VQSLOD=10.1556;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5564,445,0 9 32425910 32425910 A G exonic ACO1 synonymous SNV ACO1:NM_002197:exon11:c.A1263G:p.E421E,ACO1:NM_001278352:exon12:c.A1263G:p.E421E 0.35 0.26 0.34 0.55 0.34 0.3 0.3445 0.2693 0.3400 0.5437 0.3040 0.3486 0.3573 0.2897 0.33 0.27 0.35 0.33 0.3 rs3780473 COSM3763876;COSM3763877;COSM3763878 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3450 0.2670 0.3379 0.3236 0.5462 0.3022 0.3537 0.3338 0.2874 0.3367 0.2716 0.3377 0.3 0.5662 0.3077 0.3575 0.3347 het 1766.94 125 9 32425910 . A G 1766.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.074;DP=125;Dels=0.00;FS=9.430;HRun=0;HaplotypeScore=1.9886;MQ=58.73;MQ0=0;MQRankSum=0.511;QD=14.14;ReadPosRankSum=-0.225;VQSLOD=4.9249;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,63:125:99:1797,0,1548 9 32459450 32459450 T G exonic DDX58 synonymous SNV DDX58:NM_014314:exon17:c.A2400C:p.V800V 0.31 0.2 0.36 0.45 0.35 0.25 0.3460 0.2283 0.3439 0.4902 0.3360 0.3709 0.3731 0.2487 0.32 0.24 0.36 0.29 0.26 rs3205166 COSM3763879;COSM5831044 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3452 0.2277 0.3418 0.3947 0.4943 0.3278 0.3645 0.3588 0.2484 0.3291 0.2336 0.3482 0.3775 0.5118 0.3257 0.3619 0.3564 het 846.43 65 9 32459450 . T G 846.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.891;DP=65;Dels=0.00;FS=3.626;HRun=2;HaplotypeScore=5.9823;MQ=58.97;MQ0=0;MQRankSum=-0.925;QD=13.02;ReadPosRankSum=-0.046;VQSLOD=4.7698;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:32,33:65:99:876,0,809 9 32480251 32480251 A T exonic DDX58 nonsynonymous SNV DDX58:NM_014314:exon12:c.T1740A:p.D580E 0.057 0.0068 0.1 0.013 0.14 0.056 0.1107 0.0243 0.0607 0.0083 0.1444 0.1543 0.1443 0.0624 0.11 0.032 0.15 0.054 0.057 rs17217280 COSM3763881;COSM5618380 1(breast);1(large_intestine) . . . . . . . . . . . 0.056 0.381 T 0.973 0.556 D 0.766 0.548 P 0.000 0.466 D 0.007 0.418 P 2.81 0.821 M 1.02 0.407 T -1.8 0.425 N 0.1 0.380 -1.054 0.132 T 0.001 0.005 T . . . 3.049 0.427 22.4 0.998 0.845 0.870 0.462 D c 0.223 0.252 1.000 0.747 0.732 0.924 0 4.67 0.579 2.006 0.403 1.088 0.866 1.000 0.715 0.907 0.385 13.795 0.625 . . . 0.1092 0.0247 0.0581 0.2074 0.0092 0.1395 0.1484 0.1357 0.0629 0.1016 0.0310 0.0704 0.23 0.0092 0.1371 0.1405 0.1466 het 1901.96 163 9 32480251 . A T 1901.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.954;DP=163;Dels=0.00;FS=2.815;HRun=1;HaplotypeScore=2.1992;MQ=59.13;MQ0=0;MQRankSum=0.745;QD=11.67;ReadPosRankSum=1.589;VQSLOD=5.5101;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,74:163:99:1932,0,2206 9 32550896 32550896 G C exonic TOPORS nonsynonymous SNV TOPORS:NM_005802:exon2:c.C74G:p.S25W 0.0034 0.0023 0.0058 . 0.0089 0.001 0.0085 0.0015 0.0073 0.0012 0.0241 0.0107 0.0134 0.0021 0.0065 0.0011 0.0092 0.022 0.016 rs61758066 COSM3763883 1(large_intestine) Benign|Likely benign not_specified|Retinitis_Pigmentosa\x2c_Dominant RCV000175811.1|RCV000329393.1 MedGen|MedGen CN169374|CN239354 . . . . . . 0.02 0.496 D 0.687 0.396 P 0.176 0.340 B 0.508 0.119 N 1 0.223 N 0 0.065 N 2.47 0.148 T -0.23 0.107 N 0.266 0.323 -1.042 0.167 T 0.015 0.061 T . . . 4.537 0.607 24.3 0.980 0.373 0.015 0.050 N c -0.452 -0.455 1.000 0.747 0.442 0.072 0 3.43 0.382 0.417 0.208 0.079 0.188 0.000 0.063 0.032 0.149 9.370 0.372 . . . 0.0083 0.0017 0.0064 0.0012 0.0006 0.0223 0.0106 0.0084 0.0018 0.0083 0.0016 0.0072 0 0.0006 0.0226 0.0100 0.0071 het 710.23 52 9 32550896 . G C 710.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.797;DP=52;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9947;MQ=58.83;MQ0=0;MQRankSum=-0.009;QD=13.66;ReadPosRankSum=-2.260;VQSLOD=4.9973;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,26:52:99:740,0,612 9 32630472 32630472 T C exonic TAF1L synonymous SNV TAF1L:NM_153809:exon1:c.A5106G:p.K1702K 0.35 0.51 0.24 0.37 0.24 0.28 0.2810 0.4926 0.2410 0.3812 0.2882 0.2387 0.2390 0.2938 0.31 0.48 0.23 0.41 0.29 rs10758145 COSM5009669 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2735 0.4943 0.2379 0.2518 0.3786 0.2828 0.2344 0.2422 0.2912 0.3276 0.4882 0.2267 0.2285 0.3814 0.2693 0.2532 0.2749 het 3040.98 210 9 32630472 . T C 3040.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.801;DP=210;DS;Dels=0.00;FS=0.505;HRun=0;HaplotypeScore=3.5386;MQ=59.36;MQ0=0;MQRankSum=0.225;QD=14.48;ReadPosRankSum=1.209;VQSLOD=5.8792;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,101:210:99:3071,0,3068 9 32784838 32784838 T C exonic TMEM215 synonymous SNV TMEM215:NM_212558:exon2:c.T657C:p.C219C 0.17 0.058 0.23 0.22 0.28 0.14 0.2390 0.0923 0.1912 0.2291 0.2499 0.2863 0.3045 0.1688 0.21 0.095 0.27 0.15 0.16 rs1810807 COSM3763886 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2380 0.0904 0.1914 0.2949 0.2245 0.2412 0.2859 0.2644 0.1710 0.2151 0.0970 0.2033 0.2748 0.2129 0.2302 0.2765 0.2688 het 2885.38 216 9 32784838 . T C 2885.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.637;DP=216;Dels=0.00;FS=4.842;HRun=0;HaplotypeScore=3.7096;MQ=59.06;MQ0=0;MQRankSum=1.711;QD=13.36;ReadPosRankSum=0.250;VQSLOD=5.2544;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:106,108:216:99:2915,0,2546 9 33026572 33026572 T C exonic DNAJA1 synonymous SNV DNAJA1:NM_001539:exon2:c.T90C:p.A30A 0.6 0.86 0.48 0.57 0.51 0.44 0.5191 0.8079 0.4314 0.5537 0.4407 0.5109 0.4779 0.4475 0.61 0.79 0.52 0.65 0.44 rs20583 COSM4163726 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5114 0.8146 0.4336 0.5637 0.5466 0.4422 0.5151 0.5149 0.4426 0.5798 0.7976 0.4773 0.6060 0.5581 0.4290 0.5009 0.5020 het 1709.66 135 9 33026572 . T C 1709.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.504;DP=135;Dels=0.00;FS=2.168;HRun=1;HaplotypeScore=2.7330;MQ=58.96;MQ0=0;MQRankSum=0.694;QD=12.66;ReadPosRankSum=0.095;VQSLOD=6.6024;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,65:135:99:1740,0,1783 9 33264540 33264540 C G exonic BAG1 nonsynonymous SNV BAG1:NM_004323:exon1:c.G133C:p.G45R 0.98 0.93 0.99 1. 1. 1. 0.9951 0.9400 0.9971 1 1 0.9992 1 0.9999 0.98 0.95 1. 0.46 0.36 rs1071545 COSM3750171 2(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.939 0.084 N 0.999 0.212 P -0.805 0.016 N . . . 0.34 0.038 N 0.023 0.124 -0.960 0.392 T 0.000 0.000 T . . . 2.012 0.303 16.29 0.660 0.077 0.005 0.023 N c -1.167 -1.073 1.000 0.747 0.442 0.072 0 3.62 0.405 1.258 0.323 0.083 0.191 0.934 0.322 0.014 0.122 9.290 0.367 . . . 0.9948 0.9336 0.9963 0.9940 1 1 0.9995 0.9972 0.9998 0.9826 0.9394 1 1 1 1 0.9994 0.9979 hom 509.48 16 9 33264540 . C G 509.48 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5661;MQ=58.55;MQ0=0;QD=31.84;VQSLOD=8.2558;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:542,45,0 9 33442952 33442952 G A exonic AQP3 synonymous SNV AQP3:NM_001318144:exon4:c.C390T:p.F130F,AQP3:NM_004925:exon4:c.C390T:p.F130F 0.66 0.76 0.69 0.69 0.59 0.54 0.6276 0.7462 0.7106 0.7177 0.6861 0.5901 0.6302 0.5756 0.64 0.74 0.59 0.75 0.52 rs2228332 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6303 0.7491 0.7008 0.5442 0.7194 0.6841 0.5911 0.6145 0.5778 0.6577 0.7489 0.6492 0.5298 0.7125 0.7058 0.5922 0.6329 het 1505.97 126 9 33442952 . G A 1505.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.273;DP=126;DS;Dels=0.00;FS=2.070;HRun=2;HaplotypeScore=3.9055;MQ=59.82;MQ0=0;MQRankSum=1.124;QD=11.95;ReadPosRankSum=-0.760;VQSLOD=5.7608;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,54:126:99:1536,0,2098 9 33447424 33447424 C G exonic AQP3 synonymous SNV AQP3:NM_001318144:exon1:c.G105C:p.L35L,AQP3:NM_004925:exon1:c.G105C:p.L35L 0.74 0.78 0.83 0.76 0.73 0.61 0.7171 0.7678 0.8105 0.7486 0.7803 0.7030 0.7171 0.6534 0.74 0.8 0.72 0.81 0.48 rs591810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7277 0.7746 0.8120 0.6636 0.7584 0.8104 0.7021 0.7148 0.6506 0.7575 0.7944 0.7900 0.6391 0.7665 0.8351 0.7182 0.7464 het 57.82 16 9 33447424 . C G 57.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.850;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.34;MQ0=0;MQRankSum=1.031;QD=3.61;ReadPosRankSum=1.152;VQSLOD=3.0360;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,4:16:87.81:88,0,353 9 33796691 33796693 GAG - exonic PRSS3 nonframeshift deletion PRSS3:NM_001197098:exon2:c.70_72del:p.E25del,PRSS3:NM_002771:exon2:c.91_93del:p.E32del,PRSS3:NM_007343:exon2:c.262_264del:p.E89del,PRSS3:NM_001197097:exon3:c.133_135del:p.E46del 0.14 0.048 0.18 0.069 0.17 0.28 0.1701 0.0655 0.1627 0.0828 0.1934 0.1690 0.1531 0.2833 0.14 0.069 0.17 . . rs3831310 COSM1462091;COSM1462089;COSM5713171;COSM1462090 1(breast);1(skin);2(large_intestine);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1724 0.0642 0.1657 0.1344 0.0815 0.2014 0.1701 0.1699 0.2846 0.1518 0.0631 0.1559 0.1623 0.0953 0.1948 0.1957 0.2087 het 3526.34 213 9 33796690 . TGAG T 3526.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.073;DP=213;DS;FS=4.546;HRun=0;HaplotypeScore=934.9725;MQ=54.61;MQ0=1;MQRankSum=-0.799;QD=15.88;ReadPosRankSum=1.115;set=variant2 GT:AD:DP:GQ:PL 0/1:139,83:213:99:3526,0,7547 9 33927899 33927899 G A exonic UBAP2 nonsynonymous SNV UBAP2:NM_001282529:exon16:c.C1466T:p.A489V,UBAP2:NM_018449:exon20:c.C2267T:p.A756V 1. 0.99 1. 1. 1. 1. 0.9992 0.9915 0.9998 1 1 0.9999 0.9989 1 1. 0.99 1. 0.99 0.98 rs307692 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.904 0.086 N 1 0.273 P -1.155 0.009 N 2.05 0.207 T 1.4 0.008 N 0.073 0.072 -1.039 0.176 T 0.000 0.000 T . . . -1.263 0.023 0.005 0.292 0.015 0.017 0.053 N c -1.777 -1.705 1.000 0.408 0.672 0.522 0 -1.44 0.083 0.453 0.214 -1.773 0.007 0.649 0.279 0.000 0.016 8.380 0.314 . . . 0.9993 0.9914 0.9994 1 1 1 0.9999 0.9991 1 0.9977 0.9921 1 1 1 1 0.9999 1 hom 3373.38 114 9 33927899 . G A 3373.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.701;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6841;MQ=58.93;MQ0=0;MQRankSum=-1.014;QD=29.59;ReadPosRankSum=-0.453;VQSLOD=7.8718;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,113:114:99:3373,286,0 9 33941759 33941759 T C exonic UBAP2 nonsynonymous SNV UBAP2:NM_001282529:exon12:c.A1016G:p.N339S,UBAP2:NM_018449:exon16:c.A1817G:p.N606S 0.37 0.51 0.27 0.17 0.38 0.45 0.3741 0.4729 0.2191 0.1708 0.4421 0.3794 0.3789 0.4781 0.41 0.47 0.38 0.41 0.36 rs307658 COSM3763896;COSM150593 2(breast);1(stomach);1(pancreas);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.170 B 0.001 0.063 B 0.047 0.234 N 1.000 0.090 P -2.075 0.002 N 2.79 0.112 T -0.5 0.158 N 0.009 0.031 -0.953 0.405 T 0.000 0.000 T . . . -0.136 0.081 1.476 0.127 0.002 0.136 0.177 N c -0.775 -0.495 1.000 0.747 0.707 0.730 0 5.76 0.907 1.757 0.378 0.069 0.176 1.000 0.715 0.748 0.321 12.929 0.575 . ENSG00000235481.2|ENSG00000010438.12|ENSG00000107341.4|ENSG00000233776.1|ENSG00000230925.3 Brain_Cortex|Brain_Cortex|Cells_Transformed_fibroblasts|Testis|Whole_Blood 0.3650 0.4820 0.2290 0.2968 0.1653 0.4473 0.3800 0.3601 0.4760 0.4123 0.4674 0.2530 0.2980 0.1675 0.4446 0.4088 0.4355 hom 4238.68 134 9 33941759 . T C 4238.68 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=57.88;MQ0=0;QD=31.63;VQSLOD=8.0730;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:134:99:4238,328,0 9 34257095 34257095 G A exonic KIF24 nonsynonymous SNV KIF24:NM_194313:exon11:c.C2510T:p.S837F 0.14 0.042 0.17 0.052 0.21 0.24 0.1784 0.0632 0.1641 0.0518 0.1822 0.1975 0.1704 0.2488 0.16 0.072 0.2 0.11 . rs41274041 COSM3763903;COSM3763902 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.132 0.282 T 0.999 0.764 D 0.956 0.680 D 0.001 0.401 N 1 0.090 P 2.075 0.572 M 1.55 0.299 T -2.62 0.563 D 0.405 0.471 -1.112 0.029 T 0.000 0.000 T . . . 2.074 0.310 16.69 0.997 0.777 0.752 0.365 D c 0.385 0.311 1.000 0.747 0.615 0.372 0 4.66 0.577 2.670 0.463 1.048 0.713 0.957 0.332 0.561 0.281 11.334 0.485 . . . 0.1806 0.0636 0.1644 0.1395 0.0536 0.1906 0.2037 0.1740 0.2513 0.1603 0.0709 0.1623 0.1722 0.0549 0.1837 0.2163 0.1861 hom 2973.21 94 9 34257095 . G A 2973.21 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=31.63;VQSLOD=8.9846;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3006,232,0 9 34310927 34310927 T C exonic KIF24 nonsynonymous SNV KIF24:NM_194313:exon2:c.A418G:p.M140V 0.41 0.11 0.5 0.34 0.62 0.62 0.5442 0.1619 0.4761 0.3306 0.5662 0.6150 0.5624 0.6344 0.48 0.18 0.62 0.34 . rs10972048 COSM5425477;COSM5425476 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.229 0.506 T 0.002 0.090 B 0.002 0.063 B 0.076 0.212 N 1 0.090 P 1.98 0.539 M -0.28 0.699 T -0.68 0.229 N 0.058 0.041 -0.935 0.434 T 0.000 0.000 T . . . -2.194 0.006 0.001 0.323 0.019 0.170 0.195 N c -0.617 -0.558 1.000 0.473 0.615 0.372 0 1.9 0.247 0.040 0.137 1.061 0.807 0.547 0.271 0.838 0.350 4.233 0.100 . ENSG00000165006.9 Cells_Transformed_fibroblasts 0.5485 0.1613 0.4786 0.5943 0.3338 0.5753 0.6218 0.5657 0.6347 0.4777 0.1751 0.5048 0.6192 0.3418 0.5701 0.6353 0.5902 hom 5157.88 169 9 34310927 . T C 5157.88 Mask AC=2;AF=1.00;AN=2;DP=169;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8594;MQ=59.36;MQ0=0;QD=30.52;VQSLOD=8.5144;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5157,436,0 9 34311020 34311020 T C exonic KIF24 nonsynonymous SNV KIF24:NM_194313:exon2:c.A325G:p.R109G 0.059 0.0015 0.056 0.034 0.1 0.12 0.0831 0.0147 0.0373 0.0307 0.0875 0.0996 0.0804 0.1146 0.072 0.02 0.096 0.033 . rs41274845 . . . . . . . . . . . . . 0.167 0.231 T 0.0 0.026 B 0.001 0.040 B 0.201 0.166 N 1 0.090 P 1.345 0.336 L -0.32 0.698 T -1.01 0.301 N 0.06 0.044 -1.082 0.069 T 0.006 0.019 T . . . 0.657 0.157 8.545 0.212 0.008 0.251 0.224 N c -0.395 -0.285 1.000 0.480 0.615 0.372 0 2.95 0.331 1.609 0.362 1.061 0.807 0.877 0.307 0.342 0.244 2.783 0.050 . ENSG00000168913.6 Nerve_Tibial 0.0813 0.0150 0.0388 0.0717 0.0317 0.0904 0.1008 0.0825 0.1141 0.0715 0.0174 0.0418 0.0927 0.0285 0.0842 0.1048 0.0878 het 776.12 66 9 34311020 . T C 776.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.968;DP=66;Dels=0.00;FS=3.565;HRun=1;HaplotypeScore=3.8198;MQ=59.08;MQ0=0;MQRankSum=0.373;QD=11.76;ReadPosRankSum=0.244;VQSLOD=5.6256;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:806,0,1026 9 34371454 34371454 G C exonic KIAA1161 unknown UNKNOWN 0.0088 0.0008 0.02 . 0.022 0.0072 0.0153 0.0041 0.0060 0 0.0188 0.0212 0.0152 0.0111 0.017 0.0055 0.022 0.011 . rs41311426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0150 0.0033 0.0062 0.0031 5.828e-05 0.0195 0.0229 0.0144 0.0109 0.0165 0.0071 0.0060 0 0 0.0200 0.0238 0.0184 het 447.02 45 9 34371454 . G C 447.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.598;DP=45;Dels=0.00;FS=1.161;HRun=0;HaplotypeScore=0.9469;MQ=59.17;MQ0=0;MQRankSum=-0.011;QD=9.93;ReadPosRankSum=-1.199;VQSLOD=6.1408;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,20:45:99:477,0,697 9 34372783 34372783 G C exonic KIAA1161 unknown UNKNOWN 0.94 0.82 0.97 0.97 0.99 0.98 0.9681 0.8486 0.9657 0.9491 0.9894 0.9834 0.9688 0.9804 0.95 0.87 0.99 0.86 . rs4879781 COSM4163804 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 1.000 0.204 P -0.895 0.014 N 1.75 0.262 T -0.42 0.142 N 0.007 0.054 -0.946 0.417 T 0.000 0.000 T . . . -2.689 0.002 0.001 0.630 0.069 0.118 0.167 N c -1.695 -1.526 1.000 0.747 0.615 0.372 0 1.46 0.217 -0.199 0.094 -0.326 0.075 0.184 0.239 0.849 0.354 5.490 0.160 . ENSG00000164978.13 Adipose_Subcutaneous 0.9703 0.8496 0.9687 0.9658 0.9508 0.9887 0.9841 0.9735 0.9805 0.9455 0.8549 0.9785 0.9437 0.9377 0.9903 0.9852 0.9705 hom 1391.50 42 9 34372783 . G C 1391.50 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5968;MQ=57.20;MQ0=0;QD=33.13;VQSLOD=6.6166;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1425,117,0 9 34372873 34372873 C G exonic KIAA1161 unknown UNKNOWN 0.8 0.61 0.8 0.96 0.77 0.9 0.7939 0.6440 0.8361 0.9467 0.7688 0.7675 0.7817 0.8904 0.75 0.67 0.78 0.77 . rs4879782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7990 0.6479 0.8332 0.7278 0.9487 0.7733 0.7735 0.7785 0.8903 0.7529 0.6458 0.8305 0.7417 0.9353 0.7636 0.7864 0.7882 hom 3754.86 118 9 34372873 . C G 3754.86 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8047;MQ=58.82;MQ0=0;QD=31.82;VQSLOD=8.1043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3754,295,0 9 34372931 34372931 T A exonic KIAA1161 unknown UNKNOWN 0.14 0.041 0.17 0.093 0.21 0.24 0.1829 0.0643 0.1676 0.0881 0.1784 0.1989 0.1723 0.2517 0.16 0.071 0.2 0.14 . rs2297776 . . . . . . . . . . . . . . . . 0.005 0.119 B 0.004 0.093 B . . . 1.000 0.182 P 0.345 0.112 N . . . . . . 0.097 0.098 . . . . . . . . . 0.927 0.183 10.24 0.812 0.131 0.198 0.206 N n 0.805 0.894 1.000 0.747 0.256 0.035 0 1.65 0.229 0.487 0.219 1.061 0.807 0.000 0.063 0.969 0.458 3.231 0.063 . . . 0.1835 0.0639 0.1674 0.1409 0.0904 0.1872 0.2040 0.1745 0.2518 0.1611 0.0707 0.1623 0.1733 0.0764 0.1806 0.2164 0.1875 hom 3083.27 104 9 34372931 . T A 3083.27 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=29.65;VQSLOD=8.5178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3116,256,0 9 34379692 34379692 C T exonic C9orf24 nonsynonymous SNV C9orf24:NM_147169:exon3:c.G182A:p.C61Y,C9orf24:NM_001252195:exon4:c.G341A:p.C114Y 0.14 0.041 0.17 0.094 0.21 0.24 0.1805 0.0634 0.1585 0.0880 0.1807 0.1979 0.1689 0.2488 0.16 0.072 0.2 0.14 0.17 rs3737242 COSM3763904;COSM3763905;COSM5831053 1(large_intestine) . . . . . . . . . . . 0.237 0.179 T 0.008 0.135 B 0.018 0.173 B . . . 0.977 0.588 P . . . 0.67 0.522 T -4.08 0.747 D . . -1.086 0.062 T 0.000 0.000 T . . . 2.527 0.365 19.64 0.997 0.796 0.364 0.253 N c -0.112 0.039 1.000 0.747 0.652 0.477 0 3.82 0.430 1.516 0.352 0.935 0.490 1.000 0.715 0.999 0.750 10.413 0.433 . . . 0.1825 0.0640 0.1587 0.1409 0.0905 0.1891 0.2039 0.1739 0.2512 0.1615 0.0706 0.1599 0.1722 0.0767 0.1819 0.2171 0.1853 hom 2548.75 92 9 34379692 . C T 2548.75 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0731;MQ=59.32;MQ0=0;QD=27.70;VQSLOD=7.3988;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2582,211,0 9 34397545 34397545 A G exonic C9orf24 synonymous SNV C9orf24:NM_032596:exon1:c.T87C:p.Y29Y 0.4 0.28 0.39 0.4 0.52 0.46 0.4827 0.3026 0.3701 0.4459 0.5353 0.5321 0.4857 0.4733 0.45 0.32 0.52 0.33 0.46 rs11790577 COSM3763906 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4814 0.2982 0.3718 0.5464 0.4491 0.5380 0.5303 0.4911 0.4689 0.4616 0.3072 0.4021 0.4934 0.4839 0.5315 0.5316 0.5204 het 2921.87 201 9 34397545 . A G 2921.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.310;DP=201;Dels=0.00;FS=1.759;HRun=0;HaplotypeScore=2.7547;MQ=59.40;MQ0=0;MQRankSum=-2.365;QD=14.54;ReadPosRankSum=-0.591;VQSLOD=4.9484;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,104:201:99:2952,0,2486 9 34622389 34622389 A C exonic ARID3C nonsynonymous SNV ARID3C:NM_001017363:exon5:c.T1003G:p.C335G 0.6 0.77 0.6 0.48 0.47 0.64 0.5532 0.7281 0.7039 0.4837 0.4809 0.5000 0.5166 0.6203 0.58 0.73 0.51 0.59 0.56 rs3808869 COSM3763907 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.416 0.099 T 0.0 0.026 B 0.0 0.013 B 0.079 0.210 N 1 0.090 P -1.39 0.006 N 1.14 0.384 T -0.16 0.095 N 0.024 0.007 -1.008 0.275 T 0.000 0.000 T . . . -0.996 0.032 0.016 0.709 0.092 0.001 0.006 N c -1.372 -1.249 0.980 0.300 0.549 0.223 0 0.293 0.149 -0.052 0.117 0.061 0.167 0.000 0.063 0.284 0.234 4.092 0.094 REKLES domain ENSG00000230074.1|ENSG00000164967.5|ENSG00000230074.1|ENSG00000230074.1|ENSG00000164967.5|ENSG00000230074.1|ENSG00000230074.1|ENSG00000164967.5|ENSG00000205143.2|ENSG00000230074.1|ENSG00000230074.1|ENSG00000230074.1|ENSG00000122756.10|ENSG00000230074.1|ENSG00000164967.5|ENSG00000230074.1|ENSG00000164967.5|ENSG00000230074.1|ENSG00000230074.1|ENSG00000230074.1|ENSG00000230074.1|ENSG00000230074.1|ENSG00000147955.12|ENSG00000164967.5|ENSG00000230074.1|ENSG00000164967.5|ENSG00000230074.1|ENSG00000230074.1|ENSG00000230074.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.5511 0.7284 0.6841 0.4762 0.4733 0.4778 0.5047 0.5169 0.6137 0.5679 0.7225 0.6459 0.4669 0.4498 0.4596 0.5165 0.5215 het 684.42 63 9 34622389 . A C 684.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.511;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;MQRankSum=0.161;QD=10.86;ReadPosRankSum=0.356;VQSLOD=6.4132;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,26:63:99:714,0,1122 9 35043291 35043291 G T exonic C9orf131 nonsynonymous SNV C9orf131:NM_001040410:exon2:c.G560T:p.W187L,C9orf131:NM_001040411:exon2:c.G446T:p.W149L,C9orf131:NM_001287391:exon2:c.G446T:p.W149L,C9orf131:NM_203299:exon2:c.G665T:p.W222L,C9orf131:NM_001040412:exon3:c.G521T:p.W174L 0.65 0.6 0.81 0.45 0.75 0.73 0.7192 0.6275 0.8364 0.4610 0.6970 0.7568 0.7093 0.6876 0.71 0.62 0.76 0.7 0.59 rs615474 COSM3982850;COSM150598 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.038 0.243 N 1 0.090 P -2.48 0.001 N 3.05 0.248 T 3.51 0.002 N 0.109 0.117 -0.984 0.341 T 0.000 0.000 T . . . -0.356 0.064 0.492 0.569 0.055 0.001 0.008 N c -1.425 -1.264 0.999 0.389 0.476 0.093 0 2.8 0.317 0.359 0.198 0.152 0.238 0.014 0.188 0.995 0.604 3.602 0.075 . ENSG00000165280.11|ENSG00000165280.11|ENSG00000165282.9|ENSG00000165280.11|ENSG00000165280.11|ENSG00000165280.11|ENSG00000165280.11|ENSG00000165280.11|ENSG00000221829.5|ENSG00000165282.9|ENSG00000234181.1|ENSG00000165280.11 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Testis|Thyroid|Whole_Blood 0.7232 0.6238 0.8289 0.7440 0.4496 0.7020 0.7597 0.7371 0.6845 0.7064 0.6283 0.8282 0.7682 0.4511 0.7006 0.7710 0.7305 hom 5938.91 183 9 35043291 . G T 5938.91 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.403;DP=183;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6887;MQ=59.62;MQ0=0;MQRankSum=-0.208;QD=32.45;ReadPosRankSum=1.523;VQSLOD=8.1708;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,181:183:99:5893,428,0 9 35107765 35107765 C A exonic FAM214B synonymous SNV FAM214B:NM_001317991:exon3:c.G507T:p.G169G,FAM214B:NM_025182:exon3:c.G507T:p.G169G 0.19 0.02 0.44 0.003 0.39 0.21 0.3408 0.0641 0.4697 0.0040 0.4445 0.4087 0.3575 0.2411 0.29 0.073 0.39 0.17 0.29 rs13287211 COSM4163816 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3372 0.0633 0.4548 0.2948 0.0036 0.4450 0.4070 0.3666 0.2317 0.3010 0.0788 0.4450 0.2583 0.0012 0.4547 0.4158 0.3717 het 1167.66 85 9 35107765 . C A 1167.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.986;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.46;MQ0=0;MQRankSum=1.476;QD=13.74;ReadPosRankSum=-0.439;VQSLOD=5.9125;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,48:85:99:1198,0,967 9 35107858 35107858 C T exonic FAM214B synonymous SNV FAM214B:NM_001317991:exon3:c.G414A:p.S138S,FAM214B:NM_025182:exon3:c.G414A:p.S138S 0.98 0.94 1. 1. 1. 1. 0.9948 0.9448 0.9966 1 1 0.9997 0.9989 1 0.98 0.95 1. 0.99 0.8 rs7039828 COSM4163817 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9958 0.9463 0.9958 0.9999 1 0.9999 0.9998 0.9970 1.0000 0.9858 0.9504 0.9964 1 1 1 0.9999 0.9980 hom 1823.56 57 9 35107858 . C T 1823.56 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=31.99;VQSLOD=9.4231;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1857,144,0 9 35546735 35546735 A G exonic RUSC2 nonsynonymous SNV RUSC2:NM_001135999:exon2:c.A217G:p.T73A,RUSC2:NM_014806:exon2:c.A217G:p.T73A 0.97 0.88 0.97 1. 1. 1. 0.9878 0.8755 0.9933 1 1 0.9996 0.9940 1 0.96 0.87 1. 0.94 1. rs1535422 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.382 N 1.000 0.197 P -0.46 0.027 N 2.01 0.213 T 0.13 0.055 N 0.019 0.068 -0.951 0.409 T 0.000 0.000 T . . . -2.156 0.006 0.001 0.140 0.003 0.506 0.285 D c -1.049 -0.899 0.996 0.343 0.707 0.730 0 2.76 0.314 2.483 0.446 0.138 0.222 1.000 0.715 0.245 0.227 5.382 0.154 . . . 0.9900 0.8761 0.9934 1 1 1 0.9995 0.9957 1.0000 0.9646 0.8761 0.9976 1 1 1 0.9995 0.9949 hom 4250.70 124 9 35546735 . A G 4250.70 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5508;MQ=59.33;MQ0=0;QD=34.28;VQSLOD=9.6846;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:4250,328,0 9 35546923 35546923 C T exonic RUSC2 synonymous SNV RUSC2:NM_001135999:exon2:c.C405T:p.G135G,RUSC2:NM_014806:exon2:c.C405T:p.G135G 0.029 0.003 0.12 0.001 0.02 0.035 0.0360 0.0068 0.1490 0.0006 0.0110 0.0274 0.0224 0.0391 0.02 0.0093 0.026 0.033 0.033 rs41277049 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0411 0.0053 0.1490 0.0164 0.0004 0.0140 0.0277 0.0413 0.0363 0.0213 0.0070 0.1148 0.0132 0 0.0137 0.0280 0.0306 het 1477.42 139 9 35546923 . C T 1477.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.959;DP=139;Dels=0.00;FS=9.178;HRun=0;HaplotypeScore=4.4124;MQ=59.21;MQ0=0;MQRankSum=0.278;QD=10.63;ReadPosRankSum=0.013;VQSLOD=3.9694;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,63:139:99:1507,0,2009 9 35606884 35606884 G A exonic TESK1 nonsynonymous SNV TESK1:NM_001318230:exon4:c.G44A:p.C15Y 0.46 0.53 0.49 0.38 0.47 0.43 0.4635 0.4988 0.5515 0.4228 0.4724 0.4561 0.4262 0.4288 0.46 0.48 0.45 0.38 0.48 rs2275422 COSM3763910 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4605 0.4917 0.5374 0.3864 0.4194 0.4615 0.4567 0.4361 0.4252 0.4680 0.4843 0.5254 0.42 0.4208 0.4625 0.4624 0.4734 het 1406.07 101 9 35606884 . G A 1406.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.385;DP=101;Dels=0.00;FS=3.875;HRun=0;HaplotypeScore=0.9983;MQ=59.40;MQ0=0;MQRankSum=0.548;QD=13.92;ReadPosRankSum=-0.341;VQSLOD=6.5879;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,59:101:99:1436,0,1171 9 35660990 35660990 A G exonic CCDC107 nonsynonymous SNV CCDC107:NM_174923:exon5:c.A658G:p.I220V,CCDC107:NM_001195200:exon6:c.A577G:p.I193V 0.81 0.6 0.87 0.98 0.82 0.89 0.8184 0.6272 0.8986 0.9864 0.8230 0.7961 0.8168 0.8824 0.74 0.63 0.8 0.77 0.66 rs1339374 . . . . . . . . . . . . . 1.0 0.021 T 0.0 0.026 B 0.0 0.013 B 0.488 0.121 N 1.000 0.090 P 0.345 0.112 N 1.53 0.304 T 0.6 0.025 N 0.034 0.014 -0.957 0.397 T 0.000 0.000 T . . . -1.305 0.022 0.004 0.581 0.058 0.004 0.020 N c -1.508 -1.425 1.000 0.413 0.707 0.730 0 1.22 0.202 -0.088 0.111 -0.386 0.064 0.079 0.221 0.078 0.180 7.753 0.279 . ENSG00000137135.13|ENSG00000137135.13|ENSG00000137135.13|ENSG00000137135.13|ENSG00000137135.13|ENSG00000137135.13|ENSG00000137135.13|ENSG00000137135.13|ENSG00000137135.13|ENSG00000137135.13|ENSG00000137135.13 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8273 0.6253 0.8898 0.7712 0.9837 0.8368 0.8005 0.8071 0.8818 0.7682 0.6302 0.8640 0.7384 0.9796 0.8330 0.8028 0.8139 hom 4738.23 143 9 35660990 . A G 4738.23 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1553;MQ=59.68;MQ0=0;QD=33.13;VQSLOD=8.6397;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4738,379,0 9 35662251 35662251 T C exonic ARHGEF39 nonsynonymous SNV ARHGEF39:NM_032818:exon8:c.A917G:p.H306R 0.31 0.063 0.35 0.5 0.33 0.38 0.3227 0.1066 0.3460 0.4872 0.3293 0.3158 0.3422 0.3805 0.25 0.12 0.32 0.27 0.15 rs2297879 COSM3982854;COSM3982853 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.708 0.041 T 0.0 0.026 B 0.0 0.013 B . . . 0.999 0.301 P 0.95 0.239 L 1.01 0.411 T -1.38 0.342 N 0.036 0.052 -0.907 0.472 T 0.000 0.000 T . . . 0.092 0.102 3.522 0.779 0.116 0.205 0.209 N c -0.920 -0.825 1.000 0.747 0.672 0.522 0 2.39 0.284 0.651 0.244 0.144 0.231 0.324 0.253 0.988 0.529 7.524 0.267 PH domain-like|Pleckstrin homology domain ENSG00000137135.13|ENSG00000137135.13|ENSG00000198467.9|ENSG00000198467.9|ENSG00000137135.13|ENSG00000198467.9 Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cortex|Muscle_Skeletal|Whole_Blood 0.3277 0.1043 0.3424 0.3357 0.4796 0.3435 0.3117 0.3442 0.3786 0.2589 0.1121 0.3365 0.3146 0.4477 0.3465 0.2951 0.3053 het 1697.40 149 9 35662251 . T C 1697.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.286;DP=149;Dels=0.00;FS=4.260;HRun=0;HaplotypeScore=1.6988;MQ=59.44;MQ0=0;MQRankSum=-0.028;QD=11.39;ReadPosRankSum=0.629;VQSLOD=6.3485;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,72:149:99:1727,0,2087 9 35674053 35674053 G A exonic CA9 nonsynonymous SNV CA9:NM_001216:exon1:c.G97A:p.V33M 0.32 0.076 0.41 0.44 0.36 0.44 0.3619 0.1065 0.4411 0.4967 0.4122 0.3518 0.3521 0.4181 0.27 0.12 0.35 0.21 0.32 rs2071676 COSM4418894 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.003 0.682 D 0.815 0.436 P 0.515 0.462 P 0.405 0.046 N 0.966 0.259 P 1.935 0.520 L -0.66 0.724 T -0.49 0.156 N 0.072 0.064 -1.020 0.235 T 0.000 0.000 T . . . 2.916 0.411 21.9 0.990 0.499 0.166 0.192 N c -0.198 -0.234 1.000 0.747 0.625 0.396 0 3.11 0.347 0.480 0.218 1.044 0.665 0.002 0.151 0.259 0.229 8.009 0.293 . ENSG00000159884.7 Cells_Transformed_fibroblasts 0.3737 0.1004 0.4366 0.3727 0.5030 0.4065 0.3543 0.3590 0.4184 0.3067 0.1076 0.4093 0.3576 0.5274 0.3885 0.3688 0.3732 het 971.55 88 9 35674053 . G A 971.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.513;DP=88;Dels=0.00;FS=5.406;HRun=0;HaplotypeScore=3.5823;MQ=58.88;MQ0=0;MQRankSum=1.639;QD=11.04;ReadPosRankSum=-0.285;VQSLOD=4.7611;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,40:88:99:1002,0,1335 9 35675799 35675799 C A exonic CA9 nonsynonymous SNV CA9:NM_001216:exon3:c.C475A:p.R159S . . . . . . 0.0010 0.0003 0 0 0.0003 0.0017 0 0 0.0009 0.0003 0.0012 . . rs184826298 . . . . . . . . . . . . . 0.33 0.131 T 0.445 0.539 B 0.217 0.548 B 0.106 0.196 N 0.863 0.354 D 0.605 0.157 N -0.2 0.661 T -1.72 0.408 N 0.645 0.660 -0.738 0.586 T 0.191 0.544 T 0.060 0.678 D 4.061 0.545 23.7 0.990 0.499 0.577 0.302 D c -0.104 -0.059 1.000 0.747 0.635 0.417 0 4.05 0.462 0.096 0.149 0.931 0.441 0.004 0.165 0.952 0.428 9.196 0.362 Alpha carbonic anhydrase . . 0.0010 0.0002 5.999e-05 0 0 0.0004 0.0020 0.0004 0 0.0013 0.0005 0 0 0 0.0006 0.0023 0 het 538.67 51 9 35675799 . C A 538.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.360;DP=51;Dels=0.00;FS=2.471;HRun=0;HaplotypeScore=0.9979;MQ=59.09;MQ0=0;MQRankSum=-0.466;QD=10.56;ReadPosRankSum=0.162;VQSLOD=5.7932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,22:51:99:569,0,725 9 35705759 35705759 G A exonic TLN1 synonymous SNV TLN1:NM_006289:exon42:c.C5601T:p.T1867T 0.17 0.02 0.23 0.25 0.25 0.16 0.2264 0.0484 0.2429 0.2234 0.2289 0.2651 0.2599 0.1696 0.2 0.06 0.27 0.16 0.16 rs11541908 COSM5425514 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2294 0.0447 0.2348 0.2765 0.2140 0.2315 0.2667 0.2513 0.1681 0.1855 0.0539 0.2124 0.2616 0.2200 0.2341 0.2413 0.2265 hom 5848.53 178 9 35705759 . G A 5848.53 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.339;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.07;MQ0=0;MQRankSum=-0.090;QD=32.86;ReadPosRankSum=2.146;VQSLOD=8.9071;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,176:178:99:5803,413,0 9 35712003 35712003 G A exonic TLN1 nonsynonymous SNV TLN1:NM_006289:exon28:c.C3680T:p.S1227L 0.2 0.02 0.27 0.34 0.27 0.19 0.2498 0.0526 0.3002 0.3090 0.2330 0.2762 0.2727 0.2057 0.21 0.064 0.28 0.16 0.2 rs2295795 COSM5618192 1(breast);1(skin) . . . . . . . . . . . 0.22 0.189 T 0.002 0.090 B 0.001 0.040 B 0.010 0.303 N 0.000 0.508 P 1.87 0.498 L 2.71 0.121 T -2.88 0.605 D 0.356 0.417 -0.915 0.462 T 0.000 0.000 T . . . 3.320 0.458 22.9 0.997 0.777 0.964 0.686 D c -0.133 0.034 1.000 0.747 0.722 0.854 0 4.92 0.640 6.566 0.737 0.112 0.206 1.000 0.715 0.987 0.523 16.389 0.833 . ENSG00000198467.9|ENSG00000137098.9|ENSG00000159899.10|ENSG00000198467.9|ENSG00000198467.9|ENSG00000198467.9|ENSG00000198467.9|ENSG00000198467.9|ENSG00000198467.9|ENSG00000198467.9|ENSG00000196196.2|ENSG00000198467.9|ENSG00000198467.9|ENSG00000198467.9|ENSG00000198467.9|ENSG00000198467.9|ENSG00000198467.9 Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Liver|Nerve_Tibial|Pancreas|Pituitary|Thyroid|Whole_Blood 0.2537 0.0482 0.2917 0.2854 0.2961 0.2360 0.2780 0.2697 0.2021 0.1974 0.0575 0.2590 0.2682 0.2993 0.2384 0.2505 0.2408 hom 4817.21 154 9 35712003 . G A 4817.21 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;QD=31.28;VQSLOD=9.3230;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:4817,370,0 9 35870001 35870001 T C exonic OR13J1 nonsynonymous SNV OR13J1:NM_001004487:exon1:c.A398G:p.H133R 0.65 0.72 0.6 0.64 0.62 0.61 0.6192 0.7365 0.6190 0.6369 0.6159 0.6053 0.6150 0.5943 0.65 0.74 0.61 0.7 0.64 rs7044405 COSM3722878 1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.036 0.433 D 0.0 0.026 B 0.0 0.013 B 0.001 0.401 N 1 0.090 P 0.74 0.190 N 5.01 0.013 T 0.21 0.048 N 0.011 0.001 -1.097 0.045 T 0.000 0.000 T . . . 0.062 0.100 3.204 0.708 0.091 0.112 0.163 N c -1.345 -1.302 1.000 0.429 0.487 0.133 0 1.76 0.237 -0.277 0.085 -4.574 0.000 0.000 0.063 0.001 0.043 9.211 0.363 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000137103.12|ENSG00000137103.12|ENSG00000137103.12|ENSG00000137103.12|ENSG00000137103.12|ENSG00000137103.12|ENSG00000196196.2|ENSG00000137103.12|ENSG00000070610.10|ENSG00000070610.10|ENSG00000137103.12|ENSG00000070610.10|ENSG00000137103.12|ENSG00000070610.10|ENSG00000137103.12|ENSG00000137103.12|ENSG00000137103.12|ENSG00000137103.12 Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6156 0.7377 0.6229 0.5703 0.6179 0.6175 0.6061 0.5993 0.5959 0.6418 0.7259 0.6112 0.5927 0.5898 0.6178 0.6072 0.6327 hom 2632.27 81 9 35870001 . T C 2632.27 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8730;MQ=59.43;MQ0=0;QD=32.50;VQSLOD=9.5593;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2665,226,0 9 35870225 35870225 G A exonic OR13J1 synonymous SNV OR13J1:NM_001004487:exon1:c.C174T:p.P58P 0.18 0.027 0.26 0.08 0.31 0.29 0.2582 0.0601 0.2705 0.0736 0.2837 0.3032 0.2881 0.2776 0.23 0.075 0.31 0.14 0.41 rs72727089 COSM3763915 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2610 0.0582 0.2803 0.1881 0.0692 0.2769 0.3115 0.2545 0.2780 0.2252 0.0628 0.2656 0.2053 0.0623 0.2845 0.3174 0.2949 hom 3150.77 96 9 35870225 . G A 3150.77 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0606;MQ=58.55;MQ0=0;QD=32.82;VQSLOD=7.9587;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,95:96:99:3184,250,0 9 36169598 36169598 T C exonic CCIN synonymous SNV CCIN:NM_005893:exon1:c.T99C:p.S33S 0.5 0.59 0.3 0.5 0.45 0.58 0.4405 0.5866 0.2473 0.4697 0.3260 0.4299 0.4305 0.5577 0.49 0.58 0.45 0.5 0.48 rs3739609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4288 0.5865 0.2619 0.4696 0.4725 0.3229 0.4329 0.4271 0.5574 0.4554 0.5846 0.3086 0.5066 0.4701 0.3189 0.4223 0.3845 het 1849.52 174 9 36169598 . T C 1849.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.277;DP=174;Dels=0.00;FS=4.556;HRun=0;HaplotypeScore=3.0799;MQ=60.00;MQ0=0;MQRankSum=-1.221;QD=10.63;ReadPosRankSum=0.185;VQSLOD=4.9853;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,72:174:99:1880,0,2780 9 36674842 36674842 C T exonic MELK synonymous SNV MELK:NM_001256692:exon14:c.C1293T:p.N431N,MELK:NM_001256688:exon15:c.C1473T:p.N491N,MELK:NM_001256690:exon15:c.C1473T:p.N491N,MELK:NM_001256691:exon15:c.C1446T:p.N482N,MELK:NM_001256693:exon15:c.C1104T:p.N368N,MELK:NM_001256685:exon16:c.C1563T:p.N521N,MELK:NM_001256687:exon16:c.C1542T:p.N514N,MELK:NM_001256689:exon16:c.C1590T:p.N530N,MELK:NM_014791:exon17:c.C1686T:p.N562N 0.75 0.42 0.89 0.89 0.89 0.81 0.8506 0.4898 0.9278 0.9021 0.86 0.8952 0.8492 0.8098 0.76 0.5 0.9 0.64 0.82 rs2274473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8602 0.4777 0.9238 0.8805 0.9043 0.8627 0.8971 0.8599 0.8138 0.7740 0.4836 0.9151 0.8477 0.9032 0.8729 0.8911 0.8483 hom 4372.94 146 9 36674842 . C T 4372.94 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9736;MQ=59.17;MQ0=0;QD=29.95;VQSLOD=9.0543;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4372,337,0 9 37429814 37429814 A G exonic GRHPR synonymous SNV GRHPR:NM_012203:exon6:c.A579G:p.A193A 0.85 0.71 0.83 0.92 0.92 0.9 0.8925 0.7413 0.8612 0.9212 0.8814 0.9111 0.9194 0.9223 0.86 0.75 0.91 0.88 0.87 rs309458 COSM4163857;COSM4163856 1(thyroid) Uncertain significance\x2cother|Benign|Benign Primary_hyperoxaluria\x2c_type_II\x2cPrimary_hyperoxaluria\x2c_type_II|not_specified|Primary_hyperoxaluria RCV000186430.1\x2cRCV000020679.3|RCV000250020.1|RCV000395814.1 MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0268165:260000:ORPHA93599:40951006\x2cC0268165:260000:ORPHA93599:40951006|CN169374|C0020501:ORPHA416:17901006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8941 0.7421 0.8639 0.9047 0.9225 0.8815 0.9134 0.9055 0.9203 0.8600 0.7520 0.8699 0.9172 0.9210 0.8766 0.9086 0.8880 hom 3087.11 91 9 37429814 . A G 3087.11 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=33.92;VQSLOD=10.1410;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3120,253,0 9 37441808 37441808 A G exonic ZBTB5 synonymous SNV ZBTB5:NM_014872:exon2:c.T741C:p.D247D 1. 0.99 1. 1. 1. 1. 0.9988 0.9872 0.9995 1 1 1.0000 1 0.9998 1. 0.99 1. 1. 1. rs309450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9886 0.9991 1 1 1 1.0000 0.9996 0.9998 0.9960 0.9891 0.9988 1 1 1 0.9983 0.9990 hom 5092.57 167 9 37441808 . A G 5092.57 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=30.49;VQSLOD=8.0458;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5092,418,0 9 37492679 37492679 G T exonic POLR1E synonymous SNV POLR1E:NM_022490:exon5:c.G369T:p.A123A,POLR1E:NM_001282766:exon6:c.G159T:p.A53A 0.22 0.17 0.31 0.24 0.2 0.19 0.2284 0.1782 0.3890 0.2688 0.2389 0.2081 0.2159 0.2047 0.21 0.18 0.22 0.23 0.13 rs3739576 COSM3763928;COSM5437801;COSM3763927 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2347 0.1800 0.3697 0.1446 0.2749 0.2363 0.2117 0.2340 0.2033 0.2322 0.1905 0.3386 0.1391 0.2933 0.2384 0.2444 0.2327 hom 2403.93 89 9 37492679 . G T 2403.93 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=27.01;VQSLOD=8.1775;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2437,181,0 9 37493588 37493588 C T exonic POLR1E synonymous SNV POLR1E:NM_022490:exon6:c.C435T:p.T145T,POLR1E:NM_001282766:exon7:c.C225T:p.T75T 0.22 0.17 0.31 0.24 0.2 0.19 0.2302 0.1776 0.3893 0.2704 0.2399 0.2086 0.2189 0.2130 0.21 0.18 0.22 0.23 0.13 rs10758434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2348 0.1802 0.3701 0.1454 0.2749 0.2372 0.2124 0.2355 0.2031 0.2322 0.1906 0.3389 0.1391 0.2960 0.2384 0.2441 0.2327 hom 4151.08 138 9 37493588 . C T 4151.08 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.67;MQ0=0;QD=30.08;VQSLOD=8.4627;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4151,319,0 9 37500895 37500895 T C exonic POLR1E synonymous SNV POLR1E:NM_022490:exon10:c.T945C:p.T315T,POLR1E:NM_001282766:exon11:c.T735C:p.T245T 0.28 0.42 0.33 0.24 0.2 0.19 0.2493 0.4023 0.3986 0.2715 0.2399 0.2095 0.2269 0.2031 0.28 0.4 0.22 0.36 0.15 rs2277161 COSM5764873;COSM3763930;COSM3763929 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2521 0.4084 0.3801 0.1552 0.2768 0.2369 0.2137 0.2437 0.2039 0.2957 0.4125 0.3445 0.1556 0.2923 0.2387 0.2454 0.2388 hom 3706.62 118 9 37500895 . T C 3706.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.703;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6545;MQ=59.15;MQ0=0;MQRankSum=-1.116;QD=31.41;ReadPosRankSum=-0.763;VQSLOD=9.5046;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,117:118:99:3681,257,0 9 37503087 37503087 G A exonic POLR1E nonsynonymous SNV POLR1E:NM_022490:exon12:c.G1148A:p.R383K,POLR1E:NM_001282766:exon13:c.G938A:p.R313K 0.21 0.17 0.31 0.24 0.2 0.19 0.2288 0.1774 0.3900 0.2709 0.2401 0.2083 0.2192 0.2042 0.21 0.18 0.22 0.23 0.09 rs10814571 COSM5034125;COSM5034124;COSM5034123 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.063 B 0.311 0.144 N 1 0.090 P -1.59 0.004 N 2.12 0.197 T 0.38 0.042 N 0.015 0.007 -0.921 0.454 T 0.000 0.000 T . . . -0.266 0.071 0.793 0.786 0.120 0.037 0.088 N c -1.478 -1.410 1.000 0.429 0.707 0.730 0 -7.71 0.011 -0.217 0.092 -0.010 0.132 0.017 0.192 0.994 0.587 11.064 0.470 . ENSG00000230188.1|ENSG00000234160.1|ENSG00000230188.1|ENSG00000234160.1|ENSG00000230188.1|ENSG00000230188.1|ENSG00000137054.11|ENSG00000230188.1|ENSG00000230188.1|ENSG00000137054.11|ENSG00000230188.1|ENSG00000230188.1|ENSG00000137054.11|ENSG00000230188.1|ENSG00000137054.11|ENSG00000230188.1|ENSG00000230188.1|ENSG00000230188.1|ENSG00000230188.1|ENSG00000137054.11|ENSG00000230188.1|ENSG00000137054.11|ENSG00000230188.1|ENSG00000230188.1|ENSG00000230188.1|ENSG00000234160.1|ENSG00000137054.11|ENSG00000230188.1|ENSG00000230188.1|ENSG00000137054.11|ENSG00000230188.1|ENSG00000230188.1|ENSG00000137054.11|ENSG00000230188.1|ENSG00000230188.1|ENSG00000230188.1|ENSG00000137054.11|ENSG00000230188.1|ENSG00000230188.1|ENSG00000230188.1|ENSG00000137054.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.2357 0.1806 0.3706 0.1452 0.2763 0.2371 0.2131 0.2349 0.2034 0.2321 0.1901 0.3389 0.1391 0.2905 0.2390 0.2447 0.2316 hom 5284.99 149 9 37503087 . G A 5284.99 Mask AC=2;AF=1.00;AN=2;DP=149;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.0804;MQ=59.54;MQ0=0;QD=35.47;VQSLOD=7.6678;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:5285,415,0 9 37503124 37503124 G A exonic POLR1E synonymous SNV POLR1E:NM_022490:exon12:c.G1185A:p.K395K,POLR1E:NM_001282766:exon13:c.G975A:p.K325K 1. 1. 1. 1. 1. 1. 0.9998 0.9973 1 1 1 1 1 1 1. 1. 1. 1. 1. rs7047823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9974 1 1 1 1 1 0.9998 1 0.9992 0.9973 1 1 1 1 1 1 hom 3673.64 110 9 37503124 . G A 3673.64 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;QD=33.40;VQSLOD=8.8131;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3673,313,0 9 37692654 37692654 A C exonic FRMPD1 nonsynonymous SNV FRMPD1:NM_014907:exon2:c.A16C:p.T6P 0.14 0.095 0.094 0.16 0.19 0.17 0.1558 0.0927 0.0671 0.1515 0.1729 0.1780 0.1792 0.1617 0.15 0.091 0.18 0.087 0.11 rs3747539 COSM3763934 1(large_intestine) . . . . . . . . . . . 0.206 0.209 T 0.001 0.067 B 0.001 0.040 B 0.807 0.093 N 1.000 0.194 P 1.155 0.297 L 3.24 0.247 T 0.06 0.238 N 0.038 0.381 -0.990 0.327 T 0.000 0.000 T . . . 1.102 0.200 11.23 0.931 0.221 0.399 0.261 N c -0.647 -0.482 1.000 0.747 0.490 0.173 1 1.58 0.224 0.224 0.174 -0.318 0.077 0.972 0.342 0.980 0.490 5.981 0.185 . . . 0.1547 0.0925 0.0737 0.1705 0.1611 0.1757 0.1784 0.1587 0.1632 0.1534 0.0955 0.0907 0.1589 0.1673 0.1727 0.1822 0.1871 het 2647.85 189 9 37692654 . A C 2647.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.045;DP=189;Dels=0.00;FS=1.828;HRun=2;HaplotypeScore=5.4124;MQ=57.53;MQ0=0;MQRankSum=0.758;QD=14.01;ReadPosRankSum=-2.424;VQSLOD=3.6919;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,107:189:99:2678,0,1970 9 37740637 37740637 T C exonic FRMPD1 synonymous SNV FRMPD1:NM_014907:exon15:c.T2112C:p.A704A 0.62 0.63 0.65 0.54 0.61 0.68 0.6468 0.6311 0.6861 0.5301 0.6648 0.6497 0.6347 0.6720 0.64 0.63 0.64 0.55 0.57 rs2281872 COSM4409160;COSM4409161 1(liver);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6460 0.6321 0.6801 0.6152 0.5300 0.6611 0.6490 0.6451 0.6690 0.6455 0.6278 0.6730 0.6167 0.5397 0.6781 0.6568 0.6748 het 555.65 44 9 37740637 . T C 555.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.125;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.08;MQ0=0;MQRankSum=-1.010;QD=12.63;ReadPosRankSum=-0.399;VQSLOD=6.5541;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,23:44:99:586,0,624 9 37948724 37948724 T C exonic SHB synonymous SNV SHB:NM_003028:exon5:c.A1254G:p.G418G 0.14 0.18 0.11 0.14 0.11 0.15 0.1214 0.1673 0.1083 0.1280 0.1151 0.1097 0.0876 0.1510 0.12 0.16 0.11 0.054 0.098 rs3827519 COSM150610 1(breast);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1201 0.1663 0.1151 0.1014 0.1250 0.1123 0.1102 0.1134 0.1482 0.1210 0.1615 0.1053 0.1026 0.1325 0.1068 0.1014 0.1122 het 1243.91 104 9 37948724 . T C 1243.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.329;DP=104;Dels=0.00;FS=5.145;HRun=2;HaplotypeScore=3.4102;MQ=58.09;MQ0=0;MQRankSum=1.008;QD=11.96;ReadPosRankSum=1.398;VQSLOD=4.5395;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,51:104:99:1274,0,1368 9 37974743 37974743 T C exonic SHB synonymous SNV SHB:NM_003028:exon3:c.A930G:p.S310S 0.62 0.72 0.51 0.78 0.53 0.5 0.5462 0.6861 0.4400 0.7848 0.5669 0.5131 0.4933 0.5417 0.57 0.69 0.52 0.64 0.55 rs1138374 COSM4163862 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5423 0.6897 0.4518 0.4629 0.7804 0.5649 0.5165 0.5185 0.5408 0.5699 0.6854 0.4511 0.4371 0.7713 0.5607 0.4937 0.5458 het 2015.73 174 9 37974743 . T C 2015.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.275;DP=174;Dels=0.00;FS=5.482;HRun=1;HaplotypeScore=12.2602;MQ=59.00;MQ0=0;MQRankSum=1.463;QD=11.58;ReadPosRankSum=1.592;VQSLOD=3.1159;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,81:174:99:2046,0,2488 9 38395928 38395928 C T exonic ALDH1B1 synonymous SNV ALDH1B1:NM_000692:exon2:c.C183T:p.T61T 0.27 0.23 0.3 0.39 0.14 0.31 0.1919 0.2329 0.3484 0.3803 0.1608 0.1220 0.1799 0.2534 0.17 0.24 0.13 0.25 0.14 rs2073477 COSM1240833 1(haematopoietic_and_lymphoid_tissue);1(liver);1(oesophagus);1(large_intestine) Benign not_specified RCV000123604.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1969 0.2284 0.3305 0.1321 0.3773 0.1677 0.1222 0.1760 0.2506 0.1799 0.2192 0.2998 0.1358 0.3962 0.1626 0.1309 0.1945 het 2785.13 184 9 38395928 . C T 2785.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.087;DP=184;Dels=0.00;FS=1.842;HRun=0;HaplotypeScore=4.3518;MQ=59.17;MQ0=0;MQRankSum=1.456;QD=15.14;ReadPosRankSum=1.827;VQSLOD=5.1867;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,104:184:99:2815,0,2093 9 38395940 38395940 T C exonic ALDH1B1 synonymous SNV ALDH1B1:NM_000692:exon2:c.T195C:p.I65I 0.94 0.82 0.96 1. 0.96 0.99 0.9542 0.8475 0.9743 0.9999 0.9498 0.9552 0.9570 0.9807 0.92 0.86 0.95 0.92 0.99 rs2228094 . . Benign not_specified RCV000123605.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9572 0.8467 0.9735 0.9568 0.9998 0.9475 0.9564 0.9536 0.9807 0.9293 0.8486 0.9726 0.9603 1 0.9464 0.9605 0.9450 hom 5605.19 186 9 38395940 . T C 5605.19 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6854;MQ=58.95;MQ0=0;QD=30.14;VQSLOD=7.4454;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5604,472,0 9 38396002 38396002 C T exonic ALDH1B1 nonsynonymous SNV ALDH1B1:NM_000692:exon2:c.C257T:p.A86V 0.23 0.081 0.29 0.39 0.15 0.31 0.1851 0.0970 0.3451 0.3823 0.1741 0.1294 0.1810 0.2546 0.12 0.11 0.13 0.18 0.14 rs2228093 COSM3763942 1(breast);1(haematopoietic_and_lymphoid_tissue);2(soft_tissue);1(large_intestine) Benign not_specified RCV000123606.1 MedGen CN169374 . . . . . . 0.0 0.912 D 1.0 0.899 D 0.996 0.832 D 0.000 0.629 D 0.000 0.588 P 3.14 0.885 M 1.73 0.264 T -3.58 0.691 D 0.221 0.271 -1.015 0.253 T 0.000 0.000 T . . . 6.161 0.850 28.5 0.999 0.996 0.976 0.758 D c 0.937 0.884 1.000 0.747 0.707 0.730 0 5.51 0.817 7.548 0.810 0.935 0.490 1.000 0.715 0.999 0.750 16.901 0.859 Aldehyde dehydrogenase N-terminal domain|Aldehyde dehydrogenase domain|Aldehyde/histidinol dehydrogenase . . 0.1930 0.0926 0.3275 0.1392 0.3785 0.1815 0.1293 0.1765 0.2513 0.1498 0.0939 0.2978 0.1457 0.3975 0.1748 0.1385 0.1959 het 2139.84 165 9 38396002 . C T 2139.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.624;DP=165;Dels=0.00;FS=1.290;HRun=0;HaplotypeScore=4.5770;MQ=59.30;MQ0=0;MQRankSum=1.176;QD=12.97;ReadPosRankSum=0.194;VQSLOD=5.9108;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,85:165:99:2170,0,2223 9 38396065 38396065 G T exonic ALDH1B1 nonsynonymous SNV ALDH1B1:NM_000692:exon2:c.G320T:p.R107L 0.4 0.26 0.36 0.3 0.61 0.48 0.5177 0.3029 0.3031 0.3123 0.5127 0.6083 0.5330 0.5455 0.5 0.31 0.6 0.36 0.67 rs2073478 COSM1462466 1(thyroid);1(large_intestine) Benign not_specified RCV000123607.1 MedGen CN169374 . . . . . . 0.009 0.574 D . . . . . . 0.002 0.376 N 0.003 0.439 P . . . -1.16 0.781 T -4.78 0.805 D 0.091 0.089 -0.901 0.479 T 0.000 0.000 T . . . 3.855 0.520 23.4 0.998 0.846 0.785 0.385 D c 0.040 0.048 1.000 0.747 0.707 0.730 0 2.79 0.317 3.070 0.495 1.036 0.656 0.997 0.399 0.999 0.750 7.741 0.278 Aldehyde dehydrogenase N-terminal domain|Aldehyde dehydrogenase domain|Aldehyde/histidinol dehydrogenase ENSG00000137124.6 Muscle_Skeletal 0.5120 0.3024 0.3100 0.7031 0.3161 0.5038 0.6056 0.5374 0.5473 0.4816 0.3062 0.3505 0.7133 0.2993 0.5103 0.5974 0.5154 het 3094.94 248 9 38396065 . G T 3094.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.239;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6406;MQ=59.18;MQ0=0;MQRankSum=0.611;QD=12.43;ReadPosRankSum=0.557;VQSLOD=5.9903;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,115:248:99:3125,0,3204 9 38396502 38396502 G A exonic ALDH1B1 nonsynonymous SNV ALDH1B1:NM_000692:exon2:c.G757A:p.V253M 0.94 0.83 0.96 1. 0.96 0.99 0.9539 0.8533 0.9743 0.9999 0.9496 0.9543 0.9546 0.9787 0.92 0.86 0.95 0.92 0.71 rs4878199 . . Benign not_specified RCV000123610.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1 0.090 P -1.29 0.007 N 2.42 0.154 T 1.99 0.004 N 0.036 0.016 -1.014 0.257 T 0.000 0.000 T . . . -1.219 0.024 0.006 0.057 0.000 0.418 0.265 N c -1.364 -1.140 1.000 0.405 0.707 0.730 0 0.413 0.155 2.961 0.486 -0.526 0.049 1.000 0.715 0.009 0.108 4.952 0.133 Aldehyde dehydrogenase N-terminal domain|Aldehyde dehydrogenase domain|Aldehyde/histidinol dehydrogenase . . 0.9569 0.8528 0.9731 0.9568 0.9998 0.9476 0.9555 0.9536 0.9789 0.9312 0.8574 0.9713 0.9603 1 0.9465 0.9595 0.9436 hom 4733.79 148 9 38396502 . G A 4733.79 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1879;MQ=58.99;MQ0=0;QD=31.99;VQSLOD=8.2273;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4733,379,0 9 71628207 71628207 G C exonic PRKACG nonsynonymous SNV PRKACG:NM_002732:exon1:c.C802G:p.H268D 0.32 0.38 0.18 0.31 0.27 0.41 0.2752 0.3699 0.1307 0.3175 0.2204 0.2569 0.2947 0.3894 0.29 0.36 0.26 0.29 0.26 rs3730386 COSM3763965 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.195 P -2.15 0.001 N 3.49 0.051 T 4.33 0.000 N 0.091 0.089 -0.931 0.441 T 0.000 0.000 T . . . -0.703 0.045 0.071 0.578 0.057 0.013 0.044 N c -1.466 -1.340 1.000 0.747 0.403 0.052 0 1.62 0.227 2.304 0.431 -1.569 0.009 1.000 0.715 0.116 0.195 7.527 0.267 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000165059.5|ENSG00000119139.12 Testis|Whole_Blood 0.2681 0.3699 0.1385 0.3129 0.3181 0.2210 0.2569 0.2721 0.3903 0.2810 0.3572 0.1699 0.3543 0.3406 0.2246 0.2490 0.2668 het 2595.75 174 9 71628207 . G C 2595.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.283;DP=174;Dels=0.00;FS=5.523;HRun=1;HaplotypeScore=3.4767;MQ=59.52;MQ0=0;MQRankSum=-0.032;QD=14.92;ReadPosRankSum=1.807;VQSLOD=4.5163;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,98:174:99:2626,0,2100 9 71841018 71841018 A G exonic TJP2 synonymous SNV TJP2:NM_001170415:exon7:c.A1149G:p.L383L,TJP2:NM_001170416:exon7:c.A1230G:p.L410L,TJP2:NM_004817:exon7:c.A1137G:p.L379L,TJP2:NM_201629:exon7:c.A1137G:p.L379L,TJP2:NM_001170414:exon8:c.A1068G:p.L356L 0.11 0.16 0.11 0.12 0.062 0.097 0.0692 0.1482 0.0822 0.1009 0.0168 0.0527 0.1002 0.0797 0.088 0.14 0.061 0.14 0.066 rs17062695 COSM5831091;COSM3763967;COSM3763968 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037066.3|RCV000286578.1 MedGen|MedGen CN169374|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0678 0.1469 0.0773 0.0515 0.1013 0.0191 0.0560 0.0768 0.0813 0.0769 0.1378 0.0955 0.0497 0.1017 0.0215 0.0525 0.0571 het 996.14 74 9 71841018 . A G 996.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DP=74;Dels=0.00;FS=0.872;HRun=1;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;MQRankSum=0.065;QD=13.46;ReadPosRankSum=0.281;VQSLOD=6.4672;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,39:74:99:1026,0,931 9 71862975 71862975 C T exonic TJP2 synonymous SNV TJP2:NM_001170415:exon19:c.C2727T:p.T909T,TJP2:NM_001170416:exon19:c.C2808T:p.T936T,TJP2:NM_004817:exon19:c.C2715T:p.T905T,TJP2:NM_201629:exon19:c.C2715T:p.T905T,TJP2:NM_001170414:exon20:c.C2646T:p.T882T 0.28 0.17 0.45 0.45 0.22 0.22 0.2614 0.1860 0.5675 0.4370 0.2253 0.2160 0.2269 0.2004 0.2 0.17 0.21 0.26 0.22 rs2282336 COSM4408689;COSM4408688 1(liver) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037081.3|RCV000401248.1 MedGen|MedGen CN169374|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2705 0.1825 0.5367 0.1653 0.4369 0.2337 0.2147 0.2533 0.1953 0.2233 0.1776 0.4856 0.1523 0.4249 0.2242 0.2139 0.2362 het 2820.78 234 9 71862975 . C T 2820.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.089;DP=234;DS;Dels=0.00;FS=13.770;HRun=0;HaplotypeScore=6.4784;MQ=59.10;MQ0=0;MQRankSum=2.236;QD=12.05;ReadPosRankSum=0.720;VQSLOD=3.1118;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:131,103:234:99:2851,0,3380 9 71862987 71862987 G A exonic TJP2 synonymous SNV TJP2:NM_001170415:exon19:c.G2739A:p.A913A,TJP2:NM_001170416:exon19:c.G2820A:p.A940A,TJP2:NM_004817:exon19:c.G2727A:p.A909A,TJP2:NM_201629:exon19:c.G2727A:p.A909A,TJP2:NM_001170414:exon20:c.G2658A:p.A886A 0.28 0.17 0.45 0.45 0.22 0.22 0.2606 0.1853 0.5658 0.4348 0.2253 0.2160 0.2236 0.1981 0.2 0.17 0.21 0.26 0.22 rs2095876 COSM4408016;COSM4408015 1(liver) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037082.3|RCV000315400.1 MedGen|MedGen CN169374|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2702 0.1821 0.5359 0.1643 0.4351 0.2338 0.2149 0.2521 0.1955 0.2231 0.1773 0.4868 0.1533 0.4200 0.2241 0.2140 0.2367 het 2257.73 210 9 71862987 . G A 2257.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.708;DP=210;DS;Dels=0.00;FS=5.838;HRun=0;HaplotypeScore=4.8754;MQ=59.02;MQ0=0;MQRankSum=1.329;QD=10.75;ReadPosRankSum=0.759;VQSLOD=4.8369;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,86:210:99:2288,0,3296 9 71865988 71865988 C T exonic TJP2 nonsynonymous SNV TJP2:NM_001170415:exon20:c.C2930T:p.S977F,TJP2:NM_001170416:exon21:c.C3122T:p.S1041F,TJP2:NM_004817:exon21:c.C3029T:p.S1010F 0.039 0.0083 0.049 0.002 0.079 0.073 0.0638 0.0203 0.0285 0.0003 0.0689 0.0796 0.0872 0.0818 0.059 0.022 0.078 0.011 0.11 rs41277907 . . Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000038252.3|RCV000271363.1 MedGen|MedGen CN169374|CN239435 . . . . . . 0.004 0.682 D 0.001 0.067 B 0.007 0.121 B 0.956 0.077 N 1.000 0.810 D 1.61 0.413 L 2.87 0.104 T -2.07 0.473 N 0.281 0.340 -0.993 0.320 T 0.003 0.008 T . . . 3.345 0.461 22.9 0.944 0.242 0.594 0.306 D c -0.188 -0.043 1.000 0.747 0.722 0.854 0 5.58 0.843 1.663 0.368 0.892 0.403 0.057 0.215 0.974 0.471 19.554 0.953 . . . 0.0630 0.0191 0.0325 0.0931 0.0003 0.0683 0.0793 0.0699 0.0799 0.0560 0.0206 0.0310 0.0894 0.0006 0.0607 0.0814 0.0695 het 2249.58 225 9 71865988 . C T 2249.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.625;DP=225;DS;Dels=0.00;FS=3.012;HRun=1;HaplotypeScore=4.5457;MQ=59.48;MQ0=0;MQRankSum=1.869;QD=10.00;ReadPosRankSum=-1.204;VQSLOD=4.4934;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:129,96:225:99:2280,0,3422 9 72472831 72472831 C T exonic C9orf135 synonymous SNV C9orf135:NM_001308085:exon3:c.C90T:p.T30T,C9orf135:NM_001308086:exon3:c.C90T:p.T30T,C9orf135:NM_001010940:exon4:c.C387T:p.T129T,C9orf135:NM_001308084:exon4:c.C387T:p.T129T 0.27 0.094 0.29 0.41 0.33 0.29 0.3012 0.1342 0.2410 0.3896 0.2714 0.3285 0.3190 0.3037 0.27 0.14 0.33 0.26 0.43 rs10780682 COSM3763973 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3030 0.1308 0.2454 0.4107 0.3787 0.2780 0.3269 0.3207 0.3029 0.2643 0.1388 0.2220 0.4007 0.3708 0.2881 0.3174 0.3039 het 1508.68 130 9 72472831 . C T 1508.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.543;DP=130;Dels=0.00;FS=5.713;HRun=0;HaplotypeScore=1.9912;MQ=59.60;MQ0=0;MQRankSum=0.105;QD=11.61;ReadPosRankSum=-0.883;VQSLOD=5.2793;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,62:130:99:1539,0,1821 9 72741312 72741312 G A exonic MAMDC2 nonsynonymous SNV MAMDC2:NM_001347990:exon6:c.G881A:p.S294N,MAMDC2:NM_153267:exon6:c.G881A:p.S294N 0.87 0.6 0.95 1. 0.94 0.96 0.9220 0.6358 0.9615 0.9998 0.9389 0.9377 0.9338 0.9627 0.84 0.65 0.94 0.86 0.92 rs1998972 COSM4164000 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.011 0.147 B 0.029 0.203 B 0.000 0.559 N 0.999 0.214 P 0.295 0.102 N 4.39 0.023 T 0.21 0.048 N 0.014 0.002 -0.943 0.422 T 0.000 0.000 T . . . 1.622 0.256 13.97 0.246 0.011 0.220 0.214 N c -0.772 -0.641 1.000 0.467 0.719 0.830 0 3.96 0.449 0.767 0.261 -0.950 0.024 0.308 0.252 0.268 0.231 7.856 0.285 Concanavalin A-like lectin/glucanase domain|MAM domain . . 0.9292 0.6293 0.9571 0.9742 0.9999 0.9400 0.9355 0.9329 0.9628 0.8575 0.6473 0.9593 0.9801 1 0.9370 0.9332 0.9224 hom 2296.06 75 9 72741312 . G A 2296.06 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6421;MQ=58.29;MQ0=0;QD=30.61;VQSLOD=8.8250;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2329,187,0 9 72897434 72897434 G A exonic SMC5 nonsynonymous SNV SMC5:NM_015110:exon7:c.G916A:p.V306I 0.85 0.77 0.9 0.85 0.91 0.88 0.8824 0.7719 0.8789 0.8613 0.9342 0.8963 0.8855 0.8887 0.86 0.76 0.9 0.87 0.88 rs1180116 COSM5000802 1(pancreas) . . . . . . . . . . . 0.655 0.048 T 0.0 0.026 B 0.001 0.040 B 0.054 0.228 N 1 0.090 P 0 0.065 N 2.34 0.164 T 0.45 0.032 N 0.018 0.010 -1.035 0.190 T 0.000 0.000 T . . . 0.072 0.101 3.315 0.817 0.134 0.010 0.037 N c -1.418 -1.328 0.929 0.269 0.707 0.730 0 -1.31 0.087 -0.082 0.112 -0.150 0.108 0.001 0.137 0.909 0.387 0.504 0.005 . . . 0.8840 0.7691 0.8771 0.8095 0.8557 0.9313 0.9012 0.8890 0.8893 0.8686 0.7743 0.8849 0.8146 0.8476 0.9321 0.9100 0.8845 hom 3002.29 100 9 72897434 . G A 3002.29 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6193;MQ=58.69;MQ0=0;QD=30.02;VQSLOD=8.2247;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3035,241,0 9 72897440 72897440 T C exonic SMC5 nonsynonymous SNV SMC5:NM_015110:exon7:c.T922C:p.C308R 0.25 0.27 0.15 0.27 0.19 0.32 0.2104 0.2517 0.1254 0.2631 0.1972 0.1970 0.2346 0.2743 0.22 0.24 0.2 0.28 0.098 rs1180117 COSM3982911 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.279 0.150 N 1 0.090 P -0.59 0.022 N 2.38 0.158 T 2.76 0.002 N 0.036 0.047 -0.917 0.460 T 0.000 0.000 T . . . -0.634 0.048 0.103 0.353 0.022 0.012 0.042 N c -1.201 -1.082 0.941 0.274 0.707 0.730 0 2.61 0.301 0.480 0.218 0.069 0.176 0.000 0.063 0.833 0.348 3.246 0.063 . ENSG00000198887.7|ENSG00000268364.1 Esophagus_Mucosa|Testis 0.2036 0.2519 0.1294 0.1536 0.2539 0.1873 0.1995 0.2111 0.2735 0.2132 0.2456 0.1456 0.1788 0.2481 0.2002 0.1994 0.1953 het 977.57 97 9 72897440 . T C 977.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.719;DP=97;Dels=0.00;FS=0.783;HRun=0;HaplotypeScore=1.8317;MQ=58.65;MQ0=0;MQRankSum=0.443;QD=10.08;ReadPosRankSum=1.264;VQSLOD=6.1957;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,40:97:99:1008,0,1400 9 72912914 72912914 G A exonic SMC5 synonymous SNV SMC5:NM_015110:exon9:c.G1086A:p.K362K 0.018 0.012 0.04 . 0.047 0.001 0.0327 0.0144 0.0156 0 0.0320 0.0501 0.0265 0.0036 0.042 0.013 0.057 0.022 0.016 rs61752954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0330 0.0137 0.0201 0.0339 0 0.0306 0.0531 0.0347 0.0034 0.0345 0.0149 0.0215 0.0464 0 0.0335 0.0506 0.0296 het 1178.93 119 9 72912914 . G A 1178.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.670;DP=119;Dels=0.00;FS=3.514;HRun=3;HaplotypeScore=3.6190;MQ=58.78;MQ0=0;MQRankSum=-1.257;QD=9.91;ReadPosRankSum=-0.756;VQSLOD=4.5765;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,50:119:99:1209,0,1803 9 73150873 73150873 T G exonic TRPM3 nonsynonymous SNV TRPM3:NM_206944:exon24:c.A4631C:p.N1544T,TRPM3:NM_001007471:exon25:c.A5120C:p.N1707T,TRPM3:NM_020952:exon25:c.A4661C:p.N1554T,TRPM3:NM_206945:exon25:c.A4667C:p.N1556T,TRPM3:NM_206947:exon25:c.A4706C:p.N1569T,TRPM3:NM_024971:exon26:c.A4697C:p.N1566T,TRPM3:NM_206946:exon26:c.A4736C:p.N1579T 0.21 0.068 0.33 0.18 0.28 0.27 0.2702 0.0957 0.3402 0.1412 0.2104 0.2957 0.2691 0.3407 0.24 0.1 0.3 0.22 0.26 rs17535963 COSM3763976;COSM3763977;COSM3763975;COSM3763974 1(large_intestine) . . . . . . . . . . . 0.105 0.298 T 0.0 0.026 B 0.002 0.080 B 0.002 0.367 N 0.496 0.588 P 0.695 0.181 N 0.43 0.579 T -1.24 0.330 N 0.07 0.189 -0.926 0.448 T 0.000 0.000 T . . . 1.096 0.199 11.19 0.966 0.299 0.906 0.517 D c -0.191 -0.154 0.936 0.272 0.487 0.133 0 1.42 0.214 1.937 0.396 1.061 0.807 1.000 0.715 0.999 0.750 4.448 0.109 . . . 0.2727 0.0900 0.3477 0.3360 0.1366 0.2151 0.2979 0.3033 0.2988 0.2163 0.0975 0.3337 0.3013 0.1298 0.2109 0.2850 0.2576 het 2199.09 161 9 73150873 . T G 2199.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.670;DP=161;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1200;MQ=59.28;MQ0=0;MQRankSum=1.281;QD=13.66;ReadPosRankSum=1.206;VQSLOD=5.8372;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,80:161:99:2229,0,1989 9 73150918 73150918 C T exonic TRPM3 nonsynonymous SNV TRPM3:NM_206944:exon24:c.G4586A:p.R1529K,TRPM3:NM_001007471:exon25:c.G5075A:p.R1692K,TRPM3:NM_020952:exon25:c.G4616A:p.R1539K,TRPM3:NM_206945:exon25:c.G4622A:p.R1541K,TRPM3:NM_206947:exon25:c.G4661A:p.R1554K,TRPM3:NM_024971:exon26:c.G4652A:p.R1551K,TRPM3:NM_206946:exon26:c.G4691A:p.R1564K 0.21 0.068 0.32 0.18 0.28 0.27 0.2663 0.0946 0.3388 0.1404 0.2102 0.2927 0.2618 0.3091 0.23 0.099 0.3 0.22 0.27 rs41287373 COSM3763980;COSM3763979;COSM3763981;COSM3763978 1(bone);1(large_intestine) . . . . . . . . . . . 0.165 0.232 T 0.001 0.067 B 0.002 0.063 B 0.000 0.629 D 0.027 0.810 P 0.255 0.098 N 0.73 0.515 T -0.47 0.166 N 0.066 0.157 -0.971 0.370 T 0.000 0.000 T . . . 1.891 0.288 15.53 0.976 0.345 0.900 0.506 D c -0.079 0.163 1.000 0.747 0.487 0.133 0 5.57 0.840 5.792 0.685 0.935 0.490 1.000 0.715 1.000 0.888 19.540 0.952 . . . 0.2678 0.0888 0.3376 0.3154 0.1347 0.2118 0.2922 0.2968 0.2879 0.2155 0.0967 0.3317 0.2967 0.1290 0.2109 0.2842 0.2576 het 2869.29 199 9 73150918 . C T 2869.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.021;DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.0931;MQ=59.30;MQ0=0;MQRankSum=1.651;QD=14.42;ReadPosRankSum=-0.810;VQSLOD=3.9319;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,100:199:99:2899,0,2910 9 73150984 73150984 C T exonic TRPM3 nonsynonymous SNV TRPM3:NM_206944:exon24:c.G4520A:p.R1507Q,TRPM3:NM_001007471:exon25:c.G5009A:p.R1670Q,TRPM3:NM_020952:exon25:c.G4550A:p.R1517Q,TRPM3:NM_206945:exon25:c.G4556A:p.R1519Q,TRPM3:NM_206947:exon25:c.G4595A:p.R1532Q,TRPM3:NM_024971:exon26:c.G4586A:p.R1529Q,TRPM3:NM_206946:exon26:c.G4625A:p.R1542Q 0.6 0.63 0.58 0.79 0.58 0.4 0.5787 0.6278 0.5635 0.8370 0.6638 0.5757 0.5760 0.4015 0.57 0.62 0.55 0.63 0.57 rs6560142 COSM4164003;COSM4164004;COSM4164002;COSM4164001 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . 0.045 0.408 D 0.998 0.715 D 0.986 0.754 D 0.000 0.843 D 0.000 0.810 P 0.975 0.246 L 0.36 0.595 T -0.88 0.268 N 0.309 0.738 -0.995 0.313 T 0.000 0.000 T . . . 6.819 0.926 32 0.999 0.997 0.985 0.832 D c 0.592 0.667 1.000 0.747 0.487 0.133 0 5.77 0.910 7.568 0.814 0.935 0.490 1.000 0.715 0.994 0.587 19.998 0.974 . . . 0.5787 0.6311 0.5613 0.5651 0.8406 0.6571 0.5706 0.5602 0.4054 0.6062 0.6317 0.5565 0.5795 0.8424 0.6592 0.5592 0.5685 het 4199.86 250 9 73150984 . C T 4199.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.664;DP=250;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.0053;MQ=59.67;MQ0=0;MQRankSum=-0.421;QD=16.80;ReadPosRankSum=-1.255;VQSLOD=3.9130;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,120:250:99:3513,0,3500 9 73151715 73151715 C T exonic TRPM3 synonymous SNV TRPM3:NM_206944:exon24:c.G3789A:p.L1263L,TRPM3:NM_001007471:exon25:c.G4278A:p.L1426L,TRPM3:NM_020952:exon25:c.G3819A:p.L1273L,TRPM3:NM_206945:exon25:c.G3825A:p.L1275L,TRPM3:NM_206947:exon25:c.G3864A:p.L1288L,TRPM3:NM_024971:exon26:c.G3855A:p.L1285L,TRPM3:NM_206946:exon26:c.G3894A:p.L1298L 0.86 0.86 0.92 0.98 0.87 0.68 0.8559 0.8582 0.9089 0.9770 0.8738 0.8689 0.8425 0.6945 0.86 0.86 0.86 0.9 0.84 rs7033976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8582 0.8590 0.9073 0.8810 0.9762 0.8688 0.8652 0.8663 0.6962 0.8608 0.8621 0.8938 0.8775 0.9728 0.8708 0.8452 0.8340 hom 5026.05 178 9 73151715 . C T 5026.05 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.712;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.4701;MQ=59.09;MQ0=0;MQRankSum=1.712;QD=28.24;ReadPosRankSum=0.754;VQSLOD=2.7271;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,176:178:99:5025,409,0 9 73151970 73151970 C T exonic TRPM3 synonymous SNV TRPM3:NM_206944:exon24:c.G3534A:p.S1178S,TRPM3:NM_001007471:exon25:c.G4023A:p.S1341S,TRPM3:NM_020952:exon25:c.G3564A:p.S1188S,TRPM3:NM_206945:exon25:c.G3570A:p.S1190S,TRPM3:NM_206947:exon25:c.G3609A:p.S1203S,TRPM3:NM_024971:exon26:c.G3600A:p.S1200S,TRPM3:NM_206946:exon26:c.G3639A:p.S1213S 0.56 0.57 0.57 0.7 0.58 0.39 0.5637 0.5814 0.5539 0.7365 0.6618 0.5740 0.5618 0.3877 0.56 0.58 0.55 0.61 0.55 rs3739776 COSM4408008;COSM4408007;COSM4408009;COSM4408006 2(haematopoietic_and_lymphoid_tissue);1(liver);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5647 0.5832 0.5525 0.5652 0.7403 0.6553 0.5691 0.5512 0.3908 0.5851 0.5829 0.5513 0.5728 0.7386 0.6582 0.5565 0.5611 het 2232.11 185 9 73151970 . C T 2232.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.522;DP=185;Dels=0.00;FS=16.313;HRun=0;HaplotypeScore=6.9847;MQ=59.65;MQ0=0;MQRankSum=0.018;QD=12.07;ReadPosRankSum=-0.288;VQSLOD=3.0815;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,80:185:99:2262,0,2687 9 73461337 73461337 T A exonic TRPM3 synonymous SNV TRPM3:NM_001007470:exon4:c.A174T:p.A58A,TRPM3:NM_001007471:exon4:c.A633T:p.A211A,TRPM3:NM_020952:exon4:c.A174T:p.A58A,TRPM3:NM_024971:exon4:c.A174T:p.A58A,TRPM3:NM_206944:exon4:c.A174T:p.A58A,TRPM3:NM_206945:exon4:c.A174T:p.A58A,TRPM3:NM_206946:exon4:c.A174T:p.A58A,TRPM3:NM_206947:exon4:c.A174T:p.A58A,TRPM3:NM_206948:exon4:c.A174T:p.A58A 0.52 0.59 0.56 0.27 0.58 0.59 0.5531 0.5636 0.5237 0.2745 0.6423 0.5801 0.5740 0.5671 0.58 0.56 0.59 0.5 0.61 rs7862440 COSM5425512;COSM5425510;COSM5425509;COSM5425511 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5548 0.5659 0.5308 0.6000 0.2741 0.6430 0.5788 0.5652 0.5658 0.5657 0.5659 0.5432 0.5762 0.2572 0.6452 0.5816 0.5582 het 2662.83 243 9 73461337 . T A 2662.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.908;DP=243;DS;Dels=0.00;FS=11.600;HRun=0;HaplotypeScore=4.4477;MQ=58.67;MQ0=0;MQRankSum=1.606;QD=10.96;ReadPosRankSum=1.043;VQSLOD=3.2112;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:137,106:243:99:2693,0,3604 9 74360096 74360096 C T exonic TMEM2 nonsynonymous SNV TMEM2:NM_001135820:exon4:c.G872A:p.R291H,TMEM2:NM_013390:exon4:c.G872A:p.R291H 0.28 0.36 0.28 0.18 0.22 0.36 0.2411 0.3329 0.2406 0.1693 0.2750 0.2069 0.2093 0.3473 0.25 0.33 0.21 0.28 0.24 rs25689 COSM3763988 2(haematopoietic_and_lymphoid_tissue);1(cervix);1(large_intestine) . . . . . . . . . . . 0.344 0.125 T 0.0 0.026 B 0.0 0.040 B 0.028 0.257 N 1.000 0.198 P 0.205 0.094 N -0.72 0.730 T -0.54 0.206 N 0.015 0.035 -1.035 0.190 T 0.000 0.000 T . . . 3.574 0.487 23.2 0.898 0.186 0.544 0.294 D c -0.469 -0.209 1.000 0.747 0.722 0.854 0 6.03 0.978 1.938 0.396 0.154 0.240 1.000 0.715 0.999 0.750 9.001 0.351 . . . 0.2401 0.3341 0.2399 0.1741 0.1667 0.2796 0.2097 0.2080 0.3432 0.2589 0.3321 0.25 0.1424 0.1530 0.2849 0.2242 0.2637 het 1200.28 108 9 74360096 . C T 1200.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.768;DP=108;Dels=0.00;FS=20.438;HRun=0;HaplotypeScore=1.9117;MQ=59.31;MQ0=0;MQRankSum=-0.552;QD=11.11;ReadPosRankSum=0.144;VQSLOD=2.6476;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,43:108:99:1230,0,1591 9 74360209 74360209 G C exonic TMEM2 synonymous SNV TMEM2:NM_001135820:exon4:c.C759G:p.P253P,TMEM2:NM_013390:exon4:c.C759G:p.P253P 0.13 0.035 0.2 0.16 0.14 0.14 0.1411 0.0459 0.2028 0.1587 0.1826 0.1365 0.1322 0.1512 0.1 0.047 0.13 0.11 0.15 rs3739783 COSM150616 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1449 0.0445 0.1975 0.1405 0.1580 0.1807 0.1338 0.1284 0.1489 0.1206 0.0457 0.2005 0.1093 0.1494 0.1901 0.1377 0.1640 het 869.35 70 9 74360209 . G C 869.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.205;DP=70;Dels=0.00;FS=1.031;HRun=0;HaplotypeScore=1.9983;MQ=58.80;MQ0=0;MQRankSum=-0.704;QD=12.42;ReadPosRankSum=-0.211;VQSLOD=6.0199;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:899,0,1151 9 74975136 74975136 T C exonic ZFAND5 synonymous SNV ZFAND5:NM_001102421:exon3:c.A153G:p.G51G,ZFAND5:NM_001278244:exon3:c.A153G:p.G51G,ZFAND5:NM_006007:exon3:c.A153G:p.G51G,ZFAND5:NM_001102420:exon4:c.A153G:p.G51G,ZFAND5:NM_001278243:exon4:c.A153G:p.G51G,ZFAND5:NM_001278245:exon4:c.A153G:p.G51G 0.94 0.79 0.99 1. 1. 1. 0.9823 0.8105 0.9910 0.9995 1 0.9998 0.9934 0.9969 0.94 0.82 1. 0.92 0.95 rs2809270 COSM4164012;COSM4164011 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9859 0.8069 0.9906 0.9999 0.9994 0.9999 0.9997 0.9928 0.9971 0.9470 0.8150 0.9904 1 0.9981 0.9997 0.9997 0.9918 hom 2238.64 74 9 74975136 . T C 2238.64 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9298;MQ=50.39;MQ0=0;QD=30.25;VQSLOD=3.8168;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2272,175,0 9 75303653 75303653 C T exonic TMC1 synonymous SNV TMC1:NM_138691:exon6:c.C45T:p.D15D 0.51 0.77 0.45 0.42 0.41 0.4 0.4609 0.7322 0.4634 0.4330 0.4278 0.4324 0.4826 0.4291 0.53 0.72 0.43 0.6 0.37 rs2589615 COSM3763989 1(pancreas);1(liver);1(large_intestine);1(central_nervous_system) Benign|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000041144.3|RCV000283802.1|RCV000341193.1 MedGen|MedGen|MedGen CN169374|CN239439|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4494 0.7341 0.4660 0.4615 0.4243 0.4350 0.4175 0.4628 0.4239 0.5168 0.7243 0.4722 0.4564 0.4292 0.4432 0.4304 0.4518 het 351.12 50 9 75303653 . C T 351.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.114;DP=50;Dels=0.00;FS=4.288;HRun=0;HaplotypeScore=0.9159;MQ=57.71;MQ0=0;MQRankSum=0.801;QD=7.02;ReadPosRankSum=-0.260;VQSLOD=4.0249;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,16:50:99:381,0,856 9 75775235 75775235 A G exonic ANXA1 synonymous SNV ANXA1:NM_000700:exon5:c.A327G:p.L109L 0.15 0.23 0.095 0.15 0.097 0.14 0.1195 0.2284 0.1015 0.1895 0.1044 0.0890 0.09 0.1582 0.13 0.22 0.082 0.16 0.13 rs1050305 COSM5425919;COSM5425920 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1078 0.2202 0.0862 0.0866 0.1737 0.0983 0.0843 0.0910 0.1471 0.1350 0.2261 0.0887 0.0795 0.1723 0.1112 0.0890 0.1069 het 1818.64 137 9 75775235 . A G 1818.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.564;DP=137;Dels=0.00;FS=3.050;HRun=1;HaplotypeScore=1.9931;MQ=58.98;MQ0=0;MQRankSum=-0.700;QD=13.27;ReadPosRankSum=1.530;VQSLOD=5.9192;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,68:137:99:1849,0,1652 9 77415284 77415284 A C exonic TRPM6 synonymous SNV TRPM6:NM_001177310:exon17:c.T2109G:p.L703L,TRPM6:NM_001177311:exon17:c.T2109G:p.L703L,TRPM6:NM_017662:exon17:c.T2124G:p.L708L 0.46 0.74 0.34 0.35 0.37 0.37 0.4086 0.6804 0.2889 0.3719 0.4050 0.3895 0.4372 0.4175 0.48 0.66 0.38 0.47 0.5 rs7859201 COSM3982920;COSM3982921;COSM3982919 1(breast);4(haematopoietic_and_lymphoid_tissue);1(liver) Benign Hypomagnesemia_1\x2c_intestinal RCV000327901.1 MedGen:OMIM C1865974:602014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3959 0.6804 0.2910 0.3689 0.3657 0.4079 0.3873 0.3731 0.4213 0.4638 0.6725 0.2971 0.3642 0.3631 0.4009 0.3847 0.3783 hom 5203.05 159 9 77415284 . A C 5203.05 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.56;MQ0=0;QD=32.72;VQSLOD=9.7982;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5202,406,0 9 77563087 77563087 C T exonic C9orf40 synonymous SNV C9orf40:NM_017998:exon2:c.G462A:p.Q154Q 0.32 0.24 0.35 0.4 0.34 0.32 0.3197 0.2505 0.3088 0.3614 0.3239 0.3253 0.3333 0.3239 0.3 0.26 0.32 0.33 0.25 rs2769058 COSM150620 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3209 0.2493 0.3085 0.3218 0.3640 0.3121 0.3285 0.3232 0.3241 0.2932 0.2563 0.3162 0.2947 0.3615 0.3099 0.3022 0.2918 het 1053.67 95 9 77563087 . C T 1053.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.198;DP=95;Dels=0.00;FS=3.397;HRun=1;HaplotypeScore=7.7610;MQ=59.12;MQ0=0;MQRankSum=-2.024;QD=11.09;ReadPosRankSum=2.258;VQSLOD=2.7246;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:56,39:95:99:1084,0,1526 9 77684690 77684690 A C exonic NMRK1 synonymous SNV NMRK1:NM_017881:exon6:c.T357G:p.T119T,NMRK1:NM_001330678:exon7:c.T369G:p.T123T,NMRK1:NM_001330679:exon7:c.T369G:p.T123T 0.62 0.74 0.59 0.68 0.53 0.52 0.5644 0.7241 0.5679 0.6887 0.4136 0.5401 0.5430 0.5559 0.6 0.71 0.54 0.59 0.53 rs3752955 COSM4408002;COSM4408001 1(bone);1(pancreas);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5596 0.7208 0.5618 0.6028 0.6936 0.4154 0.5403 0.5711 0.5605 0.5732 0.7104 0.5861 0.6225 0.6988 0.4053 0.5217 0.5051 hom 2678.25 95 9 77684690 . A C 2678.25 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.20;MQ0=0;QD=28.19;VQSLOD=7.7556;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2711,214,0 9 78506187 78506187 T C exonic PCSK5 synonymous SNV PCSK5:NM_001190482:exon1:c.T90C:p.C30C,PCSK5:NM_006200:exon1:c.T90C:p.C30C 0.19 0.53 0.11 . 0.14 0.046 0.1493 0.4897 0.0689 0.0002 0.1837 0.1467 0.1599 0.0688 0.25 0.46 0.14 0.18 0.13 rs7040769 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1466 0.4846 0.0795 0.1636 0.0001 0.1852 0.1414 0.1573 0.0697 0.2318 0.4832 0.1002 0.1954 0.0006 0.1876 0.1353 0.1393 het 1554.74 124 9 78506187 . T C 1554.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.750;DP=124;Dels=0.00;FS=7.759;HRun=1;HaplotypeScore=3.5501;MQ=59.44;MQ0=0;MQRankSum=-0.399;QD=12.54;ReadPosRankSum=-0.894;VQSLOD=4.7845;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,54:124:99:1585,0,1750 9 78937974 78937974 C T exonic PCSK5 nonsynonymous SNV PCSK5:NM_001190482:exon31:c.C4028T:p.T1343M 0.49 0.68 0.43 0.21 0.55 0.49 0.5790 0.6759 0.5155 0.3078 0.5756 0.6100 0.5348 0.5391 0.58 0.65 0.55 0.48 . rs3001772 COSM3764003;COSM3764002 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.137 0.259 T . . . . . . 0.020 0.272 N 1.000 0.090 P -0.325 0.035 N 1.54 0.307 T 1.96 0.004 N 0.064 0.064 -1.065 0.106 T 0.000 0.000 T . . . 3.806 0.514 23.4 0.926 0.214 0.051 0.108 N c -0.217 -0.069 1.000 0.467 0.447 0.083 0 5.65 0.868 1.073 0.301 0.090 0.195 1.000 0.715 0.389 0.252 10.917 0.462 Growth factor receptor cysteine-rich domain . . 0.4886 0.6442 0.3852 0.5428 0.1819 0.5157 0.5400 0.5018 0.4924 0.5452 0.6407 0.4105 0.4834 0.1733 0.5412 0.5412 0.5174 het 296.16 18 9 78937974 . C T 296.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.268;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.906;QD=16.45;ReadPosRankSum=0.453;VQSLOD=11.8574;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,11:18:99:326,0,202 9 78942956 78942956 A G exonic PCSK5 synonymous SNV PCSK5:NM_001190482:exon32:c.A4290G:p.S1430S 0.51 0.72 0.45 0.21 0.6 0.5 0.5363 0.6711 0.3974 0.1892 0.5896 0.5921 0.5393 0.5065 0.61 0.67 0.59 0.5 . rs2259969 COSM3982931;COSM3982932 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5267 0.6749 0.4074 0.5581 0.1835 0.5902 0.5896 0.5441 0.5047 0.5883 0.6707 0.4296 0.5 0.1731 0.6100 0.5916 0.5686 hom 7614.96 249 9 78942956 . A G 7614.96 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5763;MQ=59.66;MQ0=0;QD=30.58;VQSLOD=6.8020;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7613,662,0 9 79003516 79003516 C G exonic RFK synonymous SNV RFK:NM_018339:exon3:c.G291C:p.V97V 0.11 0.011 0.16 0.03 0.24 0.16 0.1916 0.0425 0.1142 0.0287 0.2460 0.2466 0.2004 0.1808 0.19 0.054 0.25 0.098 0.25 rs10781358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1940 0.0413 0.1228 0.2046 0.0288 0.2481 0.2538 0.1969 0.1803 0.1900 0.0490 0.1396 0.2086 0.0271 0.2484 0.2757 0.2357 hom 3496.40 121 9 79003516 . C G 3496.40 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.07;MQ0=0;QD=28.90;VQSLOD=7.8731;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3496,277,0 9 79318376 79318390 GTGACAGCCTGCAAC - exonic PRUNE2 nonframeshift deletion PRUNE2:NM_001308047:exon9:c.8139_8153del:p.L2714_T2718del,PRUNE2:NM_001308048:exon9:c.8139_8153del:p.L2714_T2718del,PRUNE2:NM_015225:exon9:c.8139_8153del:p.L2714_T2718del 0.78 0.69 0.82 0.91 0.77 0.76 0.7782 0.6947 0.8570 0.9253 0.8021 0.7602 0.8045 0.7569 . . . 0.25 . rs376038487 COSM1319577 1(haematopoietic_and_lymphoid_tissue);2(central_nervous_system);3(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8157 0.7104 0.8842 0.8921 0.9414 0.8318 0.7857 0.8263 0.7898 0.7676 0.7008 0.8589 0.8322 0.9415 0.8096 0.7700 0.7875 hom 7186.95 71 9 79318375 . GGTGACAGCCTGCAAC G 7186.95 Mask AC=2;AF=1.00;AN=2;DP=71;FS=0.000;HRun=0;HaplotypeScore=1210.8299;MQ=36.87;MQ0=0;QD=101.22;set=variant2 GT:AD:DP:GQ:PL 1/1:2,68:71:99:7187,208,0 9 79318471 79318471 C T exonic PRUNE2 synonymous SNV PRUNE2:NM_001308047:exon9:c.G8058A:p.L2686L,PRUNE2:NM_001308048:exon9:c.G8058A:p.L2686L,PRUNE2:NM_015225:exon9:c.G8058A:p.L2686L 0.78 0.69 0.82 0.91 0.77 0.76 0.7948 0.7083 0.8744 0.9402 0.8172 0.7804 0.8156 0.7624 0.75 0.71 0.76 0.85 . rs560094 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8010 0.7060 0.8700 0.8588 0.9380 0.8203 0.7726 0.8078 0.7654 0.7704 0.7052 0.8592 0.8311 0.9435 0.8094 0.7732 0.7892 hom 2182.80 70 9 79318471 . C T 2182.80 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.61;MQ0=0;QD=31.18;VQSLOD=7.2788;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2216,184,0 9 79318677 79318677 T C exonic PRUNE2 nonsynonymous SNV PRUNE2:NM_001308047:exon9:c.A7852G:p.S2618G,PRUNE2:NM_001308048:exon9:c.A7852G:p.S2618G,PRUNE2:NM_015225:exon9:c.A7852G:p.S2618G 0.78 0.69 0.82 0.91 0.77 0.76 0.7954 0.7100 0.8750 0.9407 0.8174 0.7809 0.8174 0.7626 0.75 0.71 0.76 0.85 . rs561970 COSM4164026 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.003 N 1 0.090 P -1.01 0.011 N 1.01 0.414 T 0.12 0.075 N 0.004 0.206 -0.974 0.364 T 0.000 0.000 T . . . -2.210 0.006 0.001 0.121 0.002 0.002 0.013 N c -1.635 -1.542 0.990 0.318 0.615 0.372 0 0.474 0.159 0.051 0.139 -1.667 0.008 0.000 0.063 0.000 0.016 6.389 0.206 . ENSG00000225937.1|ENSG00000106772.13|ENSG00000106772.13|ENSG00000106772.13|ENSG00000106772.13 Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Heart_Left_Ventricle|Spleen|Whole_Blood 0.8013 0.7074 0.8703 0.8587 0.9382 0.8203 0.7728 0.8084 0.7655 0.7702 0.7052 0.8592 0.8311 0.9435 0.8094 0.7728 0.7883 hom 2113.04 60 9 79318677 . T C 2113.04 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=35.22;VQSLOD=9.7345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2146,169,0 9 79318921 79318921 A G exonic PRUNE2 synonymous SNV PRUNE2:NM_001308047:exon9:c.T7608C:p.C2536C,PRUNE2:NM_001308048:exon9:c.T7608C:p.C2536C,PRUNE2:NM_015225:exon9:c.T7608C:p.C2536C 0.43 0.19 0.63 0.35 0.59 0.52 0.5509 0.2527 0.6953 0.3599 0.5091 0.6028 0.6114 0.5301 0.5 0.27 0.6 0.48 . rs620985 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5607 0.2488 0.6923 0.6982 0.3652 0.5127 0.5972 0.5957 0.5341 0.4675 0.2441 0.6790 0.6954 0.3492 0.5155 0.5764 0.5621 hom 8289.71 246 9 79318921 . A G 8289.71 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7688;MQ=59.43;MQ0=0;QD=33.70;VQSLOD=9.3059;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:8289,638,0 9 79318998 79318998 A G exonic PRUNE2 nonsynonymous SNV PRUNE2:NM_001308047:exon9:c.T7531C:p.S2511P,PRUNE2:NM_001308048:exon9:c.T7531C:p.S2511P,PRUNE2:NM_015225:exon9:c.T7531C:p.S2511P 0.78 0.69 0.82 0.91 0.77 0.76 0.7954 0.7084 0.8748 0.9403 0.8172 0.7805 0.8173 0.7637 0.75 0.71 0.76 0.85 . rs620552 . . . . . . . . . . . . . 0.146 0.250 T 0.0 0.026 B 0.0 0.013 B 0.115 0.027 N 1 0.090 P 1.59 0.404 L 0.96 0.433 T -0.85 0.268 N 0.045 0.295 -0.930 0.441 T 0.000 0.000 T . . . 1.464 0.238 13.12 0.926 0.215 0.031 0.080 N c -1.122 -1.069 0.992 0.326 0.615 0.372 0 1.82 0.241 -0.241 0.089 -1.693 0.008 0.000 0.063 0.003 0.074 3.776 0.081 . ENSG00000225937.1|ENSG00000106772.13|ENSG00000106772.13|ENSG00000106772.13|ENSG00000106772.13 Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Heart_Left_Ventricle|Spleen|Whole_Blood 0.7996 0.7057 0.8682 0.8574 0.9383 0.8194 0.7720 0.8054 0.7636 0.7703 0.7054 0.8592 0.8311 0.9443 0.8095 0.7728 0.7888 hom 4361.91 129 9 79318998 . A G 4361.91 Mask AC=2;AF=1.00;AN=2;DP=129;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.21;MQ0=0;QD=33.81;VQSLOD=10.0723;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4362,340,0 9 79320640 79320640 C T exonic PRUNE2 nonsynonymous SNV PRUNE2:NM_001308047:exon8:c.G6550A:p.A2184T,PRUNE2:NM_001308048:exon8:c.G6550A:p.A2184T,PRUNE2:NM_015225:exon8:c.G6550A:p.A2184T 0.8 0.74 0.82 0.91 0.77 0.76 0.7991 0.7524 0.8778 0.9404 0.8172 0.7809 0.8167 0.7627 0.76 0.75 0.76 0.86 . rs512110 . . . . . . . . . . . . . 0.264 0.163 T 0.0 0.026 B 0.001 0.040 B 0.244 0.036 N 1 0.090 P 1.56 0.396 L 0.92 0.445 T -0.56 0.174 N 0.017 0.203 -1.019 0.241 T 0.000 0.000 T . . . 0.453 0.137 7.058 0.200 0.007 0.032 0.082 N c -1.068 -1.211 0.998 0.358 0.603 0.348 0 -2.67 0.057 -1.953 0.016 -1.718 0.007 0.000 0.063 0.000 0.016 0.109 0.001 . ENSG00000225937.1|ENSG00000106772.13|ENSG00000106772.13|ENSG00000106772.13|ENSG00000106772.13 Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Heart_Left_Ventricle|Spleen|Whole_Blood 0.8046 0.7508 0.8735 0.8632 0.9381 0.8201 0.7727 0.8108 0.7655 0.7827 0.7476 0.8640 0.8344 0.9443 0.8092 0.7731 0.7929 hom 3930.50 126 9 79320640 . C T 3930.50 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.52;MQ0=0;QD=31.19;VQSLOD=9.5304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:126:99:3930,316,0 9 79321276 79321276 T C exonic PRUNE2 nonsynonymous SNV PRUNE2:NM_001308047:exon8:c.A5914G:p.T1972A,PRUNE2:NM_001308048:exon8:c.A5914G:p.T1972A,PRUNE2:NM_015225:exon8:c.A5914G:p.T1972A 0.78 0.69 0.82 0.91 0.77 0.76 0.7964 0.7129 0.8754 0.9408 0.8174 0.7817 0.8164 0.7645 0.75 0.71 0.76 0.85 . rs517634 . . . . . . . . . . . . . 0.481 0.083 T 0.0 0.026 B 0.0 0.013 B 0.670 0.103 N 1 0.090 P -0.69 0.019 N 0.89 0.456 T -0.21 0.103 N 0.017 0.165 -1.044 0.160 T 0.000 0.000 T . . . -1.193 0.025 0.007 0.481 0.039 0.036 0.087 N c -1.502 -1.439 0.989 0.316 0.638 0.428 0 0.194 0.144 -0.215 0.092 -0.832 0.030 0.000 0.063 0.000 0.016 4.167 0.097 . ENSG00000225937.1|ENSG00000106772.13|ENSG00000106772.13|ENSG00000106772.13|ENSG00000106772.13 Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Heart_Left_Ventricle|Spleen|Whole_Blood 0.8022 0.7096 0.8709 0.8588 0.9382 0.8204 0.7738 0.8102 0.7671 0.7712 0.7066 0.8592 0.8311 0.9438 0.8097 0.7737 0.7892 hom 6506.78 225 9 79321276 . T C 6506.78 Mask AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2018;MQ=59.60;MQ0=0;QD=28.92;VQSLOD=7.9716;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:6505,506,0 9 79321871 79321871 C T exonic PRUNE2 synonymous SNV PRUNE2:NM_001308047:exon8:c.G5319A:p.T1773T,PRUNE2:NM_001308048:exon8:c.G5319A:p.T1773T,PRUNE2:NM_015225:exon8:c.G5319A:p.T1773T 0.52 0.37 0.66 0.45 0.62 0.58 0.6033 0.4196 0.7122 0.4489 0.5245 0.6430 0.6411 0.5859 0.58 0.43 0.64 0.64 . rs577993 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6085 0.4163 0.7117 0.7290 0.4523 0.5307 0.6370 0.6358 0.5889 0.5430 0.4084 0.7045 0.7152 0.4335 0.5364 0.6183 0.5984 hom 2782.25 84 9 79321871 . C T 2782.25 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=33.12;VQSLOD=9.8996;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2815,217,0 9 79322068 79322068 G T exonic PRUNE2 nonsynonymous SNV PRUNE2:NM_001308047:exon8:c.C5122A:p.H1708N,PRUNE2:NM_001308048:exon8:c.C5122A:p.H1708N,PRUNE2:NM_015225:exon8:c.C5122A:p.H1708N 0.5 0.34 0.64 0.45 0.6 0.58 0.5833 0.3945 0.7059 0.4498 0.5106 0.6153 0.6233 0.5765 0.55 0.41 0.62 0.62 . rs683866 COSM5003649 1(pancreas) . . . . . . . . . . . 0.389 0.110 T 0.005 0.119 B 0.002 0.063 B 0.632 0.107 N 1 0.090 P 1.1 0.281 L 1.1 0.392 T -0.04 0.100 N 0.03 0.049 -0.927 0.445 T 0.000 0.000 T . . . 1.407 0.232 12.83 0.461 0.036 0.199 0.206 N c -0.311 -0.354 0.998 0.368 0.638 0.428 0 5.19 0.713 1.009 0.293 0.884 0.388 0.003 0.159 0.006 0.095 11.508 0.495 . ENSG00000106772.13|ENSG00000106772.13 Cells_EBV-transformed_lymphocytes|Whole_Blood 0.5899 0.3908 0.7019 0.7121 0.4524 0.5146 0.6099 0.6146 0.5822 0.5186 0.3850 0.6921 0.7119 0.4318 0.5175 0.5885 0.5767 hom 3141.72 94 9 79322068 . G T 3141.72 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9852;MQ=58.97;MQ0=0;QD=33.42;VQSLOD=9.4780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3175,250,0 9 79322674 79322674 A G exonic PRUNE2 nonsynonymous SNV PRUNE2:NM_001308047:exon8:c.T4516C:p.C1506R,PRUNE2:NM_001308048:exon8:c.T4516C:p.C1506R,PRUNE2:NM_015225:exon8:c.T4516C:p.C1506R 0.79 0.7 0.82 0.91 0.77 0.77 0.7969 0.7131 0.8757 0.9404 0.8169 0.7826 0.8177 0.7651 0.75 0.71 0.76 0.88 . rs680775 . . . . . . . . . . . . . 0.137 0.260 T 0.0 0.026 B 0.0 0.013 B 0.434 0.047 N 1 0.090 P 0 0.065 N 0.99 0.418 T 0.21 0.048 N 0.06 0.467 -1.039 0.177 T 0.000 0.000 T . . . 0.797 0.170 9.448 0.616 0.066 0.298 0.237 N c -0.857 -0.873 1.000 0.473 0.638 0.428 0 0.642 0.169 0.685 0.249 -0.206 0.101 0.662 0.280 0.004 0.083 1.853 0.030 . ENSG00000225937.1|ENSG00000106772.13|ENSG00000106772.13|ENSG00000106772.13|ENSG00000106772.13 Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Heart_Left_Ventricle|Spleen|Whole_Blood 0.8024 0.7093 0.8710 0.8588 0.9381 0.8200 0.7739 0.8109 0.7675 0.7702 0.7031 0.8592 0.8311 0.9439 0.8097 0.7738 0.7888 hom 863.01 30 9 79322674 . A G 863.01 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.77;VQSLOD=13.7236;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:72.22:896,72,0 9 79322720 79322720 A G exonic PRUNE2 synonymous SNV PRUNE2:NM_001308047:exon8:c.T4470C:p.D1490D,PRUNE2:NM_001308048:exon8:c.T4470C:p.D1490D,PRUNE2:NM_015225:exon8:c.T4470C:p.D1490D 0.78 0.66 0.82 0.91 0.77 0.76 0.7950 0.6896 0.8743 0.9404 0.8179 0.7831 0.8135 0.7652 0.74 0.69 0.76 0.85 . rs680729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8010 0.6860 0.8696 0.8591 0.9382 0.8206 0.7741 0.8104 0.7676 0.7646 0.6826 0.8592 0.8311 0.9439 0.8097 0.7741 0.7867 hom 1399.31 40 9 79322720 . A G 1399.31 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=34.98;VQSLOD=9.8199;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1432,114,0 9 79324135 79324135 - TGACTGTTGCAG exonic PRUNE2 nonframeshift insertion PRUNE2:NM_001308047:exon8:c.3054_3055insCTGCAACAGTCA:p.S1018_S1019insLQQS,PRUNE2:NM_001308048:exon8:c.3054_3055insCTGCAACAGTCA:p.S1018_S1019insLQQS,PRUNE2:NM_015225:exon8:c.3054_3055insCTGCAACAGTCA:p.S1018_S1019insLQQS 0.5 0.34 0.64 0.45 0.6 0.58 0.5725 0.3907 0.6873 0.4365 0.5009 0.6029 0.6130 0.5752 0.52 0.38 0.59 . . rs2307907 COSM1463021 1(liver);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5139 0.3823 0.6875 0.7027 0.4210 0.5175 0.5825 0.5748 hom 7190.49 81 9 79324135 . A ATGACTGTTGCAG 7190.49 Mask AC=2;AF=1.00;AN=2;DP=81;FS=0.000;HRun=0;HaplotypeScore=770.6741;MQ=37.16;MQ0=0;QD=88.77;set=variant2 GT:AD:DP:GQ:PL 1/1:63,18:81:99:7190,153,0 9 79324179 79324179 G A exonic PRUNE2 nonsynonymous SNV PRUNE2:NM_001308047:exon8:c.C3011T:p.T1004M,PRUNE2:NM_001308048:exon8:c.C3011T:p.T1004M,PRUNE2:NM_015225:exon8:c.C3011T:p.T1004M 0.43 0.2 0.63 0.36 0.59 0.52 0.5525 0.2545 0.6965 0.3643 0.5092 0.6042 0.6091 0.5325 0.5 0.27 0.61 0.48 . rs530978 COSM4164027 1(thyroid) . . . . . . . . . . . 0.308 0.141 T 0.943 0.511 P 0.367 0.416 B 0.246 0.036 N 1 0.090 P 1.445 0.365 L 0.95 0.433 T -1.05 0.275 N 0.025 0.207 -0.947 0.416 T 0.000 0.000 T . . . 2.234 0.330 17.73 0.996 0.756 0.220 0.214 N c -0.474 -0.558 0.990 0.318 0.638 0.428 0 2.98 0.334 0.258 0.180 -0.706 0.037 0.000 0.063 0.000 0.016 5.200 0.145 . ENSG00000106772.13|ENSG00000106772.13 Cells_EBV-transformed_lymphocytes|Whole_Blood 0.5623 0.2503 0.6927 0.6980 0.3707 0.5130 0.5987 0.5981 0.5362 0.4686 0.2457 0.6794 0.6933 0.3507 0.5161 0.5774 0.5602 hom 2958.28 92 9 79324179 . G A 2958.28 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=47.37;MQ0=0;QD=32.16;VQSLOD=4.6740;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2991,256,0 9 79324741 79324741 T C exonic PRUNE2 nonsynonymous SNV PRUNE2:NM_001308047:exon8:c.A2449G:p.N817D,PRUNE2:NM_001308048:exon8:c.A2449G:p.N817D,PRUNE2:NM_015225:exon8:c.A2449G:p.N817D 0.46 0.3 0.64 0.36 0.59 0.53 0.5620 0.3516 0.7012 0.3663 0.5093 0.6048 0.6147 0.5376 0.53 0.37 0.6 0.56 . rs557352 . . . . . . . . . . . . . 0.041 0.419 D 0.379 0.325 B 0.093 0.286 B 0.000 0.523 D 0.797 0.291 P 1.84 0.484 L 1.89 0.237 T -1.37 0.350 N 0.116 0.127 -0.987 0.333 T 0.000 0.000 T . . . 0.651 0.156 8.504 0.979 0.363 0.881 0.476 D c -0.100 0.039 0.952 0.280 0.554 0.246 0 5.65 0.868 1.284 0.326 1.061 0.807 1.000 0.715 0.966 0.452 10.486 0.437 . ENSG00000106772.13|ENSG00000106772.13 Cells_EBV-transformed_lymphocytes|Whole_Blood 0.5697 0.3452 0.6974 0.6980 0.3708 0.5130 0.5989 0.6043 0.5412 0.4942 0.3361 0.6847 0.6954 0.3509 0.5155 0.5772 0.5658 hom 1175.99 38 9 79324741 . T C 1175.99 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=30.95;VQSLOD=9.0237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:93.29:1209,93,0 9 79325558 79325558 G C exonic PRUNE2 synonymous SNV PRUNE2:NM_001308047:exon8:c.C1632G:p.T544T,PRUNE2:NM_001308048:exon8:c.C1632G:p.T544T,PRUNE2:NM_015225:exon8:c.C1632G:p.T544T 0.48 0.27 0.64 0.45 0.6 0.58 0.5785 0.3240 0.7031 0.4556 0.5113 0.6158 0.6205 0.5794 0.53 0.35 0.62 0.53 . rs600859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5850 0.3189 0.6988 0.7123 0.4554 0.5145 0.6096 0.6114 0.5824 0.4990 0.3157 0.6890 0.7119 0.4313 0.5175 0.5888 0.5757 hom 1025.16 34 9 79325558 . G C 1025.16 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;QD=30.15;VQSLOD=8.2255;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:34:87.23:1058,87,0 9 79325615 79325615 A G exonic PRUNE2 synonymous SNV PRUNE2:NM_001308047:exon8:c.T1575C:p.S525S,PRUNE2:NM_001308048:exon8:c.T1575C:p.S525S,PRUNE2:NM_015225:exon8:c.T1575C:p.S525S 0.79 0.69 0.82 0.92 0.77 0.76 0.7967 0.7139 0.8757 0.9392 0.8176 0.7819 0.8183 0.7647 0.75 0.71 0.76 0.85 . rs611461 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8021 0.7097 0.8706 0.8580 0.9377 0.8204 0.7739 0.8099 0.7660 0.7710 0.7066 0.8597 0.8311 0.9439 0.8097 0.7734 0.7892 hom 1484.93 57 9 79325615 . A G 1484.93 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=26.05;VQSLOD=7.9952;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1518,123,0 9 79946961 79946961 C T exonic VPS13A synonymous SNV VPS13A:NM_001018037:exon45:c.C5910T:p.Y1970Y,VPS13A:NM_001018038:exon46:c.C6027T:p.Y2009Y,VPS13A:NM_015186:exon46:c.C6027T:p.Y2009Y,VPS13A:NM_033305:exon46:c.C6027T:p.Y2009Y 0.069 0.033 0.058 0.11 0.095 0.057 0.0872 0.0480 0.0393 0.1168 0.0675 0.1014 0.0958 0.0796 0.079 0.055 0.091 0.054 0.098 rs17424026 COSM4138996;COSM4138994;COSM4138995 3(haematopoietic_and_lymphoid_tissue);1(kidney) Likely benign Choreoacanthocytosis RCV000367276.1 MedGen:OMIM:Orphanet C0393576:200150:ORPHA2388 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0848 0.0470 0.0469 0.1401 0.1114 0.0672 0.0967 0.0919 0.0805 0.0754 0.0447 0.0468 0.1258 0.1134 0.0621 0.0918 0.0910 het 2851.37 240 9 79946961 . C T 2851.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.439;DP=240;Dels=0.00;FS=0.481;HRun=0;HaplotypeScore=6.3365;MQ=59.60;MQ0=0;MQRankSum=1.363;QD=11.88;ReadPosRankSum=-1.238;VQSLOD=4.4976;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,116:240:99:2881,0,2897 9 80043886 80043886 G A exonic GNA14 synonymous SNV GNA14:NM_004297:exon5:c.C660T:p.T220T . . . . . . 5.767e-05 0 0 0 0 0.0001 0 0 0.0001 . 0.0001 . . rs199888332 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 6.534e-05 8.948e-05 0 0 0.0005 0.0002 0 0 0.0002 0 0 0 0 0.0003 0.0002 0.0010 het 4120.12 250 9 80043886 . G A 4120.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.612;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.2823;MQ=59.40;MQ0=0;MQRankSum=0.064;QD=16.48;ReadPosRankSum=-0.001;VQSLOD=2.5365;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,121:250:99:3439,0,3877 9 80049298 80049298 C T exonic GNA14 synonymous SNV GNA14:NM_004297:exon3:c.G450A:p.S150S 0.36 0.51 0.33 0.35 0.29 0.25 0.3105 0.4988 0.3384 0.3437 0.3467 0.2888 0.3016 0.2267 0.35 0.48 0.28 0.38 0.16 rs1801258 COSM4407607 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3079 0.4997 0.3442 0.2628 0.3389 0.3481 0.2854 0.2946 0.2241 0.3553 0.4962 0.3305 0.2715 0.3193 0.3477 0.2851 0.3105 hom 3199.06 97 9 80049298 . C T 3199.06 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=32.98;VQSLOD=9.8654;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3232,253,0 9 84205860 84205860 G A exonic TLE1 synonymous SNV TLE1:NM_001303103:exon16:c.C1719T:p.T573T,TLE1:NM_001303104:exon16:c.C1644T:p.T548T,TLE1:NM_005077:exon16:c.C1689T:p.T563T 0.17 0.15 0.21 0.039 0.33 0.16 0.2552 0.1665 0.1480 0.0463 0.2195 0.3338 0.2654 0.1917 0.29 0.17 0.35 0.17 0.19 rs8782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2547 0.1638 0.1583 0.3932 0.0444 0.2188 0.3392 0.2819 0.1932 0.2454 0.1711 0.1981 0.43 0.0537 0.2033 0.3176 0.2551 het 2827.48 208 9 84205860 . G A 2827.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.265;DP=208;Dels=0.00;FS=5.882;HRun=0;HaplotypeScore=8.3653;MQ=59.11;MQ0=0;MQRankSum=-0.564;QD=13.59;ReadPosRankSum=1.013;VQSLOD=3.4941;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,108:208:99:2857,0,2899 9 84267147 84267147 T C exonic TLE1 synonymous SNV TLE1:NM_001303103:exon6:c.A354G:p.E118E,TLE1:NM_001303104:exon6:c.A354G:p.E118E,TLE1:NM_005077:exon6:c.A354G:p.E118E 0.91 0.92 0.92 0.89 0.88 0.93 0.9083 0.9073 0.9528 0.8779 0.9191 0.9023 0.8844 0.9148 0.91 0.91 0.91 0.89 0.86 rs2228173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9105 0.9071 0.9507 0.8937 0.8804 0.9134 0.9036 0.9034 0.9149 0.9081 0.9110 0.9427 0.8775 0.8622 0.9167 0.9081 0.9061 hom 7927.30 247 9 84267147 . T C 7927.30 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5265;MQ=57.64;MQ0=0;QD=32.09;VQSLOD=6.3952;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:247:99:7926,626,0 9 86278817 86278817 C A exonic UBQLN1 synonymous SNV UBQLN1:NM_053067:exon9:c.G1506T:p.L502L,UBQLN1:NM_013438:exon10:c.G1590T:p.L530L 0.38 0.2 0.42 0.81 0.22 0.34 0.3211 0.2011 0.5736 0.8152 0.1704 0.2435 0.2925 0.3360 0.23 0.2 0.24 0.28 0.24 rs7866234 COSM4407254 1(breast);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3288 0.2029 0.5496 0.2315 0.8116 0.1737 0.2436 0.2964 0.3387 0.2532 0.1969 0.5131 0.2649 0.8120 0.1797 0.2289 0.2383 het 1336.02 111 9 86278817 . C A 1336.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.407;DP=111;Dels=0.00;FS=2.764;HRun=1;HaplotypeScore=2.5952;MQ=59.27;MQ0=0;MQRankSum=1.354;QD=12.04;ReadPosRankSum=-0.481;VQSLOD=6.4233;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,56:111:99:1366,0,1554 9 86284178 86284178 C A exonic UBQLN1 synonymous SNV UBQLN1:NM_013438:exon7:c.G1170T:p.L390L,UBQLN1:NM_053067:exon7:c.G1170T:p.L390L 0.77 0.86 0.71 0.88 0.62 0.73 0.6887 0.8394 0.7659 0.8866 0.5863 0.6268 0.6670 0.7281 0.7 0.83 0.63 0.78 0.6 rs1044175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6844 0.8406 0.7511 0.6944 0.8839 0.5762 0.6236 0.6743 0.7217 0.6820 0.8448 0.7416 0.7086 0.8728 0.5765 0.5910 0.6286 het 799.76 70 9 86284178 . C A 799.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.656;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9309;MQ=58.14;MQ0=0;MQRankSum=0.979;QD=11.43;ReadPosRankSum=0.326;VQSLOD=5.7490;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,30:70:99:830,0,1088 9 86468715 86468715 A T exonic KIF27 synonymous SNV KIF27:NM_001271928:exon13:c.T2895A:p.I965I,KIF27:NM_001271927:exon14:c.T2988A:p.I996I,KIF27:NM_017576:exon15:c.T3186A:p.I1062I 0.65 0.83 0.49 0.53 0.66 0.65 0.6335 0.8053 0.3861 0.5140 0.6973 0.6521 0.6567 0.6589 0.7 0.8 0.64 0.66 0.74 rs295274 COSM3764031 1(breast);1(large_intestine) Benign not_specified RCV000456025.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6205 0.8060 0.4026 0.6503 0.5073 0.6943 0.6505 0.6206 0.6578 0.6907 0.8100 0.4336 0.6291 0.5043 0.6940 0.6556 0.6953 hom 2047.25 75 9 86468715 . A T 2047.25 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.25;MQ0=3;QD=27.30;VQSLOD=7.0161;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,72:75:99:2080,168,0 9 86900926 86900926 G A exonic SLC28A3 synonymous SNV SLC28A3:NM_001199633:exon13:c.C1381T:p.L461L,SLC28A3:NM_022127:exon14:c.C1381T:p.L461L 0.2 0.34 0.23 0.16 0.14 0.11 0.1536 0.3136 0.1991 0.1460 0.0643 0.1377 0.1395 0.1264 0.19 0.29 0.15 0.26 0.14 rs7853758 COSM4418843 1(haematopoietic_and_lymphoid_tissue) drug response anthracyclines_and_related_substances_response_-_Toxicity/ADR RCV000417136.1 MedGen CN236469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1520 0.3125 0.1996 0.2124 0.1481 0.0667 0.1351 0.1542 0.1263 0.1878 0.3111 0.2029 0.2233 0.1508 0.0719 0.1488 0.1398 het 868.12 79 9 86900926 . G A 868.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.143;DP=79;Dels=0.00;FS=3.035;HRun=1;HaplotypeScore=4.8886;MQ=59.47;MQ0=0;MQRankSum=0.550;QD=10.99;ReadPosRankSum=1.571;VQSLOD=5.0776;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:898,0,987 9 86920236 86920236 T C exonic SLC28A3 synonymous SNV SLC28A3:NM_001199633:exon4:c.A267G:p.T89T,SLC28A3:NM_022127:exon5:c.A267G:p.T89T 0.56 0.84 0.58 0.6 0.32 0.39 0.4036 0.7522 0.6420 0.6078 0.2864 0.2985 0.3304 0.3858 0.45 0.72 0.3 0.64 0.34 rs7867504 COSM3764036 1(bone);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4050 0.7569 0.6270 0.3591 0.6133 0.2859 0.2929 0.3768 0.3847 0.4567 0.7558 0.5742 0.3841 0.6192 0.2854 0.3077 0.3436 het 1162.03 108 9 86920236 . T C 1162.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.050;DP=108;Dels=0.00;FS=3.643;HRun=1;HaplotypeScore=2.8178;MQ=57.91;MQ0=0;MQRankSum=-0.234;QD=10.76;ReadPosRankSum=0.627;VQSLOD=5.0169;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,53:108:99:1192,0,1311 9 88937852 88937854 TTT - exonic ZCCHC6 nonframeshift deletion ZCCHC6:NM_001185074:exon9:c.2442_2444del:p.K814del,ZCCHC6:NM_001185059:exon13:c.2811_2813del:p.K937del,ZCCHC6:NM_024617:exon13:c.2811_2813del:p.K937del,ZCCHC6:NM_001330718:exon14:c.678_680del:p.K226del 0.52 0.56 0.49 0.48 0.54 0.52 0.5473 0.5657 0.5312 0.4969 0.6400 0.5485 0.5544 0.5308 0.55 0.56 0.54 0.033 . rs58050565 COSM5021216 1(bone);1(large_intestine);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5454 0.5660 0.5316 0.4449 0.4953 0.6352 0.5513 0.5262 0.5270 0.5735 0.5578 0.5467 0.4768 0.4726 0.6506 0.5782 0.5840 het 1578.21 94 9 88937851 . ATTT A 1578.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.113;DP=94;FS=5.438;HRun=7;HaplotypeScore=372.7570;MQ=56.21;MQ0=0;MQRankSum=-2.711;QD=16.79;ReadPosRankSum=-0.756;set=variant2 GT:AD:DP:GQ:PL 0/1:52,42:94:99:1617,0,2659 9 88959938 88959938 C T exonic ZCCHC6 synonymous SNV ZCCHC6:NM_001185059:exon5:c.G951A:p.L317L,ZCCHC6:NM_001185074:exon5:c.G951A:p.L317L,ZCCHC6:NM_024617:exon5:c.G951A:p.L317L 0.62 0.83 0.53 0.53 0.54 0.57 0.5755 0.7953 0.5433 0.5406 0.6408 0.5493 0.5749 0.5573 0.62 0.78 0.54 0.65 0.54 rs791323 COSM1463436 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5694 0.8024 0.5446 0.4483 0.5361 0.6357 0.5526 0.5433 0.5551 0.6464 0.7942 0.5707 0.4833 0.5155 0.6504 0.5834 0.6122 het 1103.69 86 9 88959938 . C T 1103.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.607;DP=86;Dels=0.00;FS=1.912;HRun=0;HaplotypeScore=2.3291;MQ=59.00;MQ0=0;MQRankSum=-1.110;QD=12.83;ReadPosRankSum=-1.882;VQSLOD=5.5252;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,39:86:99:1134,0,1272 9 90265015 90265015 C T exonic DAPK1 synonymous SNV DAPK1:NM_001288729:exon16:c.C1608T:p.D536D,DAPK1:NM_001288730:exon16:c.C1608T:p.D536D,DAPK1:NM_001288731:exon16:c.C1608T:p.D536D,DAPK1:NM_004938:exon16:c.C1608T:p.D536D 0.35 0.12 0.54 0.58 0.37 0.28 0.3895 0.1498 0.6743 0.6017 0.4483 0.3736 0.3672 0.2632 0.31 0.15 0.38 0.35 0.4 rs3818584 COSM1636275;COSM1636274 2(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4053 0.1500 0.6566 0.2869 0.6067 0.4388 0.3756 0.3969 0.2670 0.3442 0.1615 0.5873 0.2848 0.6390 0.4332 0.3804 0.4255 het 727.69 63 9 90265015 . C T 727.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.332;DP=63;Dels=0.00;FS=7.038;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=1.162;QD=11.55;ReadPosRankSum=-0.965;VQSLOD=4.7823;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,32:63:99:758,0,878 9 90500193 90500193 C G exonic SPATA31E1 nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.C791G:p.A264G 0.12 0.35 0.046 0.035 0.064 0.034 0.0676 0.2909 0.0245 0.0381 0.0877 0.0500 0.0586 0.0364 0.13 0.29 0.049 0.11 0.09 rs59256416 COSM3721101 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.076 0.342 T 0.541 0.360 P 0.179 0.341 B . . . 1 0.090 P 1.7 0.440 L 3.9 0.035 T -1.9 0.443 N 0.011 0.001 -0.938 0.429 T 0.000 0.000 T . . . -1.249 0.024 0.005 0.658 0.076 0.005 0.023 N c -1.595 -1.765 0.999 0.373 0.497 0.185 0 -3.39 0.045 -0.544 0.061 -1.078 0.019 0.001 0.137 0.000 0.016 3.770 0.081 . . . 0.0625 0.2995 0.0300 0.0137 0.0391 0.0879 0.0503 0.0458 0.0379 0.1256 0.2951 0.0335 0.0099 0.0339 0.0887 0.0571 0.0663 het 2638.77 157 9 90500193 . C G 2638.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.663;DP=157;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5671;MQ=59.44;MQ0=0;MQRankSum=-1.625;QD=16.81;ReadPosRankSum=0.352;VQSLOD=4.6825;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,88:157:99:2669,0,1907 9 90500224 90500224 C T exonic SPATA31E1 synonymous SNV SPATA31E1:NM_178828:exon4:c.C822T:p.P274P 0.1 0.27 0.042 0.035 0.064 0.034 0.0614 0.2208 0.0226 0.0381 0.0881 0.0499 0.0567 0.0365 0.1 0.21 0.048 0.12 0.098 rs58932350 COSM4164079 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0573 0.2243 0.0271 0.0138 0.0391 0.0877 0.0501 0.0439 0.0379 0.1058 0.2257 0.0286 0.0099 0.0341 0.0887 0.0569 0.0634 het 1853.27 113 9 90500224 . C T 1853.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.884;DP=113;Dels=0.00;FS=4.662;HRun=0;HaplotypeScore=2.5444;MQ=59.08;MQ0=0;MQRankSum=0.354;QD=16.40;ReadPosRankSum=0.594;VQSLOD=4.9126;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,63:113:99:1883,0,1292 9 90500405 90500405 A C exonic SPATA31E1 nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.A1003C:p.T335P 0.76 0.95 0.72 0.88 0.57 0.62 0.6239 0.8954 0.7853 0.8667 0.6172 0.5409 0.5784 0.5527 0.66 0.88 0.54 0.79 0.49 rs7850542 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.924 0.075 N 1 0.090 P -1.895 0.002 N 4.1 0.030 T 4.39 0.000 N 0.039 0.019 -1.009 0.273 T 0.000 0.000 T . . . -2.237 0.005 0.001 0.103 0.001 0.000 0.001 N c -1.707 -1.629 0.962 0.286 0.497 0.185 0 0.534 0.162 -0.515 0.063 -0.126 0.112 0.000 0.063 0.001 0.043 3.231 0.063 . ENSG00000233884.1|ENSG00000214888.2|ENSG00000234575.1|ENSG00000214888.2 Testis|Testis|Testis|Whole_Blood 0.6240 0.9022 0.7719 0.4272 0.8609 0.6139 0.5458 0.5998 0.5495 0.6643 0.8879 0.7279 0.4238 0.8645 0.5980 0.5331 0.6019 het 1017.13 71 9 90500405 . A C 1017.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.699;DP=71;Dels=0.00;FS=2.103;HRun=2;HaplotypeScore=2.8898;MQ=58.94;MQ0=0;MQRankSum=1.042;QD=14.33;ReadPosRankSum=0.869;VQSLOD=6.2851;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,37:71:99:1047,0,925 9 90501448 90501448 C A exonic SPATA31E1 nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.C2046A:p.D682E 0.76 0.95 0.72 0.88 0.57 0.62 0.6224 0.8953 0.7843 0.8669 0.6150 0.5394 0.5796 0.5517 0.65 0.88 0.54 0.78 0.4 rs4076795 COSM4407367 2(pancreas);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.008 N 1 0.090 P -1.04 0.011 N 3.37 0.059 T 0.94 0.015 N 0.001 0.000 -0.995 0.313 T 0.000 0.000 T . . . -1.115 0.028 0.009 0.185 0.006 0.000 0.003 N c -2.100 -2.158 1.000 0.446 0.497 0.185 0 -4.86 0.029 -0.267 0.086 -1.150 0.017 0.000 0.063 0.000 0.016 5.925 0.182 . ENSG00000233884.1|ENSG00000214888.2|ENSG00000234575.1|ENSG00000214888.2 Testis|Testis|Testis|Whole_Blood 0.6227 0.9019 0.7712 0.4262 0.8601 0.6131 0.5440 0.5980 0.5485 0.6629 0.8877 0.7266 0.4238 0.8657 0.5975 0.5305 0.5969 het 1008.83 80 9 90501448 . C A 1008.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.455;DP=80;Dels=0.00;FS=11.876;HRun=1;HaplotypeScore=2.8861;MQ=58.95;MQ0=0;MQRankSum=-1.896;QD=12.61;ReadPosRankSum=1.877;VQSLOD=3.0184;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,39:80:99:1039,0,1172 9 90501500 90501500 G A exonic SPATA31E1 nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.G2098A:p.G700R 0.077 0.23 0.036 . 0.05 0.0061 0.0467 0.1954 0.0184 0.0002 0.0448 0.0448 0.03 0.0078 0.09 0.18 0.043 0.098 0.033 rs34017995 . . . . . . . . . . . . . 0.87 0.026 T 0.202 0.281 B 0.012 0.158 B 0.008 0.012 N 1 0.090 P -0.255 0.038 N 3.24 0.069 T 1.62 0.006 N 0.042 0.022 -0.960 0.393 T 0.000 0.000 T . . . -0.035 0.090 2.262 0.185 0.006 0.001 0.006 N c -1.321 -1.375 0.769 0.236 0.497 0.185 0 -1.14 0.092 -0.772 0.048 -0.581 0.045 0.000 0.063 0.000 0.016 5.425 0.156 . . . 0.0421 0.1967 0.0224 0.0088 0.0001 0.0446 0.0456 0.0308 0.0084 0.0876 0.1992 0.0263 0.0066 0 0.0510 0.0488 0.0449 het 969.26 101 9 90501500 . G A 969.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.389;DP=101;Dels=0.00;FS=1.677;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=1.120;QD=9.60;ReadPosRankSum=-0.017;VQSLOD=5.7094;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,39:101:99:999,0,1568 9 90501514 90501514 C G exonic SPATA31E1 nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.C2112G:p.D704E 0.3 0.61 0.29 0.25 0.11 0.12 0.1707 0.5525 0.2870 0.2505 0.1443 0.0988 0.1264 0.1111 0.24 0.53 0.094 0.27 0.098 rs4076794 . . . . . . . . . . . . . 1.0 0.010 T 0.005 0.119 B 0.002 0.063 B 0.000 0.002 N 1 0.090 P 0 0.065 N 3.33 0.062 T 1.17 0.011 N 0.025 0.007 -0.925 0.448 T 0.000 0.000 T . . . -1.773 0.011 0.002 0.123 0.002 0.000 0.001 N c -1.608 -1.700 0.987 0.312 0.497 0.185 0 -3.84 0.040 0.764 0.260 -0.165 0.106 0.003 0.159 0.000 0.016 1.959 0.031 . . . 0.1666 0.5604 0.2794 0.0237 0.2445 0.1426 0.1007 0.1312 0.1127 0.2452 0.5438 0.2656 0.0199 0.2360 0.1464 0.1059 0.1408 het 850.10 100 9 90501514 . C G 850.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.079;DP=100;Dels=0.00;FS=3.929;HRun=0;HaplotypeScore=1.3123;MQ=59.77;MQ0=0;MQRankSum=-0.004;QD=8.50;ReadPosRankSum=1.074;VQSLOD=5.5361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,37:100:99:880,0,1788 9 90501609 90501609 C T exonic SPATA31E1 nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.C2207T:p.A736V 0.077 0.23 0.036 . 0.05 0.0061 0.0466 0.1952 0.0175 0.0002 0.0448 0.0447 0.0301 0.0078 0.091 0.18 0.044 0.098 0.082 rs34791830 . . . . . . . . . . . . . 0.378 0.112 T 0.311 0.507 B 0.159 0.452 B 0.023 0.016 N 1 0.090 P 1.245 0.315 L 3.26 0.067 T -1.21 0.307 N 0.007 0.000 -1.002 0.292 T 0.000 0.000 T . . . 0.694 0.160 8.787 0.993 0.588 0.001 0.007 N c -0.831 -0.989 0.951 0.279 0.554 0.283 0 0.098 0.137 -0.339 0.078 0.649 0.292 0.000 0.063 0.003 0.074 4.701 0.121 . . . 0.0419 0.1964 0.0218 0.0088 0.0001 0.0447 0.0455 0.0308 0.0083 0.0876 0.1989 0.0251 0.0066 0 0.0510 0.0490 0.0439 het 898.51 87 9 90501609 . C T 898.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.698;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3365;MQ=59.40;MQ0=0;MQRankSum=0.277;QD=10.33;ReadPosRankSum=-1.469;VQSLOD=5.3059;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,40:87:99:929,0,1347 9 90502458 90502458 T A exonic SPATA31E1 nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.T3056A:p.V1019E 0.76 0.95 0.72 0.88 0.57 0.62 0.6223 0.8956 0.7857 0.8671 0.6127 0.5383 0.5809 0.5539 0.66 0.88 0.54 0.79 0.35 rs10868670 COSM4164086 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.59 0.004 N 4.07 0.031 T 1.59 0.007 N 0.035 0.015 -1.021 0.234 T 0.000 0.000 T . . . -0.311 0.068 0.626 0.195 0.007 0.000 0.001 N c -1.495 -1.444 0.024 0.135 0.497 0.185 0 2.16 0.265 -0.207 0.093 -0.623 0.043 0.001 0.137 0.001 0.043 2.740 0.049 . ENSG00000233884.1|ENSG00000214888.2|ENSG00000234575.1|ENSG00000214888.2 Testis|Testis|Testis|Whole_Blood 0.6224 0.9021 0.7722 0.4263 0.8606 0.6099 0.5429 0.5974 0.5510 0.6615 0.8875 0.7279 0.4238 0.8657 0.5948 0.5281 0.6004 het 1520.28 95 9 90502458 . T A 1520.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.502;DP=95;Dels=0.00;FS=3.904;HRun=0;HaplotypeScore=5.2433;MQ=59.02;MQ0=0;MQRankSum=1.682;QD=16.00;ReadPosRankSum=0.019;VQSLOD=3.9300;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,53:95:99:1550,0,1158 9 90502819 90502819 T C exonic SPATA31E1 synonymous SNV SPATA31E1:NM_178828:exon4:c.T3417C:p.T1139T 0.58 0.66 0.55 0.56 0.53 0.54 0.5171 0.6307 0.5074 0.5453 0.5597 0.5012 0.5291 0.4859 0.54 0.62 0.5 0.58 0.39 rs10868671 COSM4408702 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5146 0.6307 0.5133 0.4204 0.5383 0.5596 0.5034 0.5214 0.4826 0.5393 0.6277 0.5120 0.4139 0.5389 0.5441 0.4910 0.5380 het 1087.53 139 9 90502819 . T C 1087.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.296;DP=139;Dels=0.00;FS=4.339;HRun=1;HaplotypeScore=1.8888;MQ=58.96;MQ0=0;MQRankSum=-1.617;QD=7.82;ReadPosRankSum=-1.784;VQSLOD=3.8368;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:89,50:139:99:1118,0,2503 9 90503007 90503007 A G exonic SPATA31E1 nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.A3605G:p.D1202G 0.46 0.52 0.4 0.34 0.52 0.49 0.4744 0.5188 0.3800 0.3508 0.5451 0.4946 0.4723 0.4527 0.48 0.48 0.48 0.46 0.12 rs11789780 COSM456205 1(thyroid);1(biliary_tract) . . . . . . . . . . . 0.599 0.056 T 0.988 0.604 D 0.83 0.578 P 0.348 0.042 N 1 0.090 P 1.79 0.469 L 3.81 0.038 T -1.8 0.424 N 0.085 0.080 -0.922 0.453 T 0.000 0.000 T . . . 1.944 0.295 15.86 0.984 0.407 0.027 0.072 N c -0.422 -0.652 0.128 0.170 0.497 0.185 0 1.51 0.220 0.726 0.255 0.725 0.305 0.002 0.151 0.002 0.062 5.746 0.173 . ENSG00000214888.2|ENSG00000233884.1|ENSG00000234575.1|ENSG00000214888.2 Lung|Testis|Testis|Whole_Blood 0.4556 0.5021 0.3654 0.4170 0.3313 0.5321 0.4880 0.4729 0.4428 0.4797 0.5054 0.3699 0.41 0.3327 0.5157 0.4783 0.5010 het 479.11 32 9 90503007 . A G 479.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.663;DP=32;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=-1.662;QD=14.97;ReadPosRankSum=0.642;VQSLOD=6.3212;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,17:32:99:509,0,441 9 90503451 90503451 G A exonic SPATA31E1 nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.G4049A:p.R1350H 0.46 0.52 0.4 0.34 0.52 0.49 0.4626 0.5027 0.3524 0.3311 0.5359 0.4884 0.4878 0.4485 0.49 0.5 0.49 0.45 0.4 rs11142017 COSM4407359 1(liver) . . . . . . . . . . . 0.165 0.232 T 0.0 0.026 B 0.0 0.013 B 0.078 0.023 N 1 0.090 P -0.755 0.017 N 3.83 0.037 T -0.58 0.174 N 0.018 0.003 -0.936 0.433 T 0.000 0.000 T . . . 1.121 0.202 11.33 0.897 0.184 0.000 0.001 N c -1.366 -1.364 0.057 0.151 0.554 0.283 0 1.25 0.204 -0.185 0.096 -0.065 0.121 0.000 0.063 0.001 0.043 2.917 0.054 . ENSG00000214888.2|ENSG00000233884.1|ENSG00000234575.1|ENSG00000214888.2 Lung|Testis|Testis|Whole_Blood 0.4587 0.5026 0.3638 0.4175 0.3321 0.5352 0.4920 0.4765 0.4450 0.4797 0.5036 0.3699 0.4106 0.3335 0.5172 0.4788 0.5020 het 1441.99 115 9 90503451 . G A 1441.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.698;DP=115;Dels=0.00;FS=4.685;HRun=0;HaplotypeScore=3.7842;MQ=58.65;MQ0=0;MQRankSum=2.254;QD=12.54;ReadPosRankSum=-0.049;VQSLOD=4.8385;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,58:115:99:1472,0,1414 9 90588903 90588903 C T exonic CDK20 synonymous SNV CDK20:NM_001039803:exon2:c.G123A:p.E41E,CDK20:NM_001170639:exon2:c.G123A:p.E41E,CDK20:NM_001170640:exon2:c.G123A:p.E41E,CDK20:NM_012119:exon2:c.G123A:p.E41E,CDK20:NM_178432:exon2:c.G162A:p.E54E 0.67 0.64 0.69 0.31 0.9 0.83 0.8049 0.6734 0.6123 0.3232 0.8633 0.9069 0.8381 0.8373 0.82 0.66 0.91 0.67 0.85 rs665983 COSM4419546;COSM4419547 1(breast);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7975 0.6697 0.6242 0.8821 0.3285 0.8652 0.9068 0.8264 0.8349 0.8023 0.6920 0.6563 0.9007 0.3342 0.8650 0.9063 0.8398 hom 7101.41 212 9 90588903 . C T 7101.41 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6347;MQ=58.92;MQ0=0;QD=33.50;VQSLOD=7.2777;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,211:212:99:7101,563,0 9 91656963 91656963 T C exonic SHC3 synonymous SNV SHC3:NM_016848:exon10:c.A1338G:p.P446P 0.79 0.8 0.77 0.99 0.63 0.76 0.7082 0.7724 0.8115 0.9876 0.6529 0.6501 0.6921 0.7067 0.7 0.77 0.66 0.8 0.72 rs3750399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7124 0.7714 0.7992 0.7133 0.9883 0.6531 0.6495 0.6860 0.7103 0.7033 0.7640 0.7840 0.6821 0.9907 0.6523 0.6476 0.6589 het 1052.46 82 9 91656963 . T C 1052.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.520;DP=82;Dels=0.00;FS=5.195;HRun=0;HaplotypeScore=1.8455;MQ=59.26;MQ0=0;MQRankSum=0.873;QD=12.83;ReadPosRankSum=-0.046;VQSLOD=6.0074;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,39:82:99:1082,0,1048 9 93606309 93606309 G A exonic SYK synonymous SNV SYK:NM_001135052:exon2:c.G129A:p.Q43Q,SYK:NM_001174167:exon2:c.G129A:p.Q43Q,SYK:NM_001174168:exon2:c.G129A:p.Q43Q,SYK:NM_003177:exon2:c.G129A:p.Q43Q 0.11 0.11 0.11 0.016 0.17 0.15 0.1781 0.1232 0.0946 0.0184 0.1591 0.2175 0.1926 0.1942 0.18 0.12 0.21 0.11 0.049 rs35758162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1587 0.1132 0.0937 0.2190 0.0164 0.1261 0.2022 0.1897 0.1742 0.1537 0.1133 0.0885 0.2285 0.0105 0.1162 0.2026 0.1690 het 434.50 32 9 93606309 . G A 434.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.697;DP=32;Dels=0.00;FS=22.275;HRun=1;HaplotypeScore=0.9867;MQ=59.28;MQ0=0;MQRankSum=0.320;QD=13.58;ReadPosRankSum=0.170;VQSLOD=2.2582;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,16:32:99:464,0,459 9 93641193 93641193 C T exonic SYK synonymous SNV SYK:NM_001135052:exon10:c.C1470T:p.F490F,SYK:NM_001174168:exon10:c.C1470T:p.F490F,SYK:NM_001174167:exon11:c.C1539T:p.F513F,SYK:NM_003177:exon11:c.C1539T:p.F513F 0.034 0.058 0.026 . 0.04 0.037 0.0390 0.0485 0.0160 0.0005 0.0611 0.0435 0.0363 0.0425 0.044 0.048 0.042 0.022 . rs34231418 COSM3764057;COSM3764056 3(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0385 0.0482 0.0172 0.0278 0.0001 0.0635 0.0446 0.0389 0.0420 0.0400 0.0448 0.0179 0.02 0 0.0555 0.0395 0.0407 het 1756.76 165 9 93641193 . C T 1756.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.549;DP=165;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.6756;MQ=59.04;MQ0=0;MQRankSum=0.943;QD=10.65;ReadPosRankSum=1.163;VQSLOD=5.3872;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,68:165:99:1787,0,2374 9 94486321 94486321 C T exonic ROR2 nonsynonymous SNV ROR2:NM_004560:exon9:c.G2455A:p.V819I 0.75 0.78 0.77 0.91 0.69 0.58 0.7103 0.7637 0.8633 0.9287 0.7476 0.6682 0.7084 0.6102 0.7 0.76 0.67 0.69 0.55 rs10761129 . . other|Benign|Benign not_specified|Brachydactyly|Robinow_syndrome RCV000147389.4|RCV000344414.1|RCV000382446.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|C0221357:ORPHA294937:43476002|C0265205:180700:76520005 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.424 N 1 0.588 P -1.895 0.002 N -0.94 0.753 T 0.29 0.042 N 0.039 0.019 -0.939 0.428 T 0.000 0.000 T . . . -0.053 0.089 2.110 0.391 0.027 0.183 0.200 N c -1.169 -0.920 0.035 0.142 0.554 0.283 0 3.39 0.378 4.940 0.630 0.103 0.200 1.000 0.715 0.972 0.466 8.965 0.348 . . . 0.7160 0.7610 0.8488 0.6121 0.9276 0.7440 0.6692 0.7069 0.6140 0.7251 0.7553 0.8062 0.5927 0.9239 0.7415 0.6813 0.7096 hom 2741.10 84 9 94486321 . C T 2741.10 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.62;MQ0=0;QD=32.63;VQSLOD=9.1772;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2774,232,0 9 94486622 94486622 G A exonic ROR2 synonymous SNV ROR2:NM_004560:exon9:c.C2154T:p.P718P 0.078 0.0038 0.094 0.14 0.083 0.1 0.0832 0.0146 0.1372 0.1575 0.1033 0.0670 0.1080 0.1051 0.05 0.015 0.069 0.054 0.12 rs2230577 . . Benign|Benign|Benign not_specified|Robinow_syndrome|Brachydactyly RCV000147387.3|RCV000327784.1|RCV000384620.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0265205:180700:76520005|C0221357:ORPHA294937:43476002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0857 0.0139 0.1275 0.0557 0.1523 0.1052 0.0661 0.0798 0.1064 0.0679 0.0157 0.1181 0.0464 0.1517 0.1103 0.0751 0.0980 het 1085.40 67 9 94486622 . G A 1085.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.038;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8448;MQ=59.66;MQ0=0;MQRankSum=0.850;QD=16.20;ReadPosRankSum=-0.569;VQSLOD=6.0953;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,41:67:99:1115,0,598 9 94486688 94486688 G A exonic ROR2 synonymous SNV ROR2:NM_004560:exon9:c.C2088T:p.Y696Y 0.42 0.44 0.53 0.42 0.42 0.28 0.4268 0.4355 0.5574 0.3991 0.4489 0.4335 0.3898 0.3104 0.43 0.43 0.43 0.35 0.3 rs10992063 COSM3764059 1(thyroid);1(large_intestine) Benign|Benign|Benign not_specified|Robinow_syndrome|Brachydactyly RCV000147386.3|RCV000269125.1|RCV000326426.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0265205:180700:76520005|C0221357:ORPHA294937:43476002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4329 0.4400 0.5578 0.3791 0.4011 0.4473 0.4350 0.4179 0.3134 0.4389 0.4307 0.5012 0.3709 0.4059 0.4424 0.4460 0.4129 het 531.27 60 9 94486688 . G A 531.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.143;DP=60;Dels=0.00;FS=1.027;HRun=1;HaplotypeScore=1.6553;MQ=59.38;MQ0=0;MQRankSum=0.483;QD=8.85;ReadPosRankSum=-0.084;VQSLOD=6.6382;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,22:60:99:561,0,1036 9 94495608 94495608 T C exonic ROR2 nonsynonymous SNV ROR2:NM_001318204:exon6:c.A733G:p.T245A,ROR2:NM_004560:exon6:c.A733G:p.T245A 0.65 0.76 0.52 0.53 0.66 0.69 0.6318 0.7441 0.4689 0.4762 0.6229 0.6520 0.6480 0.6772 0.68 0.74 0.65 0.42 0.57 rs10820900 COSM1569878 1(thyroid);1(large_intestine) other|Benign|Benign not_specified|Robinow_syndrome|Brachydactyly RCV000147392.3|RCV000299600.1|RCV000357148.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0265205:180700:76520005|C0221357:ORPHA294937:43476002 . . . . . . 0.849 0.027 T 0.0 0.026 B 0.001 0.093 B 0.025 0.262 N 1.000 0.191 P 0.35 0.120 N -0.89 0.748 T 0.32 0.047 N 0.037 0.017 -0.925 0.448 T 0.000 0.000 T . . . -0.198 0.076 1.109 0.757 0.108 0.046 0.102 N c -0.917 -0.774 0.057 0.151 0.646 0.450 0 3.45 0.384 0.604 0.237 -0.029 0.127 0.000 0.063 0.951 0.427 4.185 0.098 Frizzled domain . . 0.6201 0.7454 0.4871 0.6647 0.4757 0.6162 0.6469 0.6152 0.6784 0.6560 0.7403 0.5048 0.6510 0.4851 0.6163 0.6463 0.6092 hom 1939.98 65 9 94495608 . T C 1939.98 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.03;FS=0.000;HRun=2;HaplotypeScore=2.6527;MQ=59.24;MQ0=0;QD=28.95;VQSLOD=7.9636;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1973,159,0 9 95068046 95068046 C T exonic NOL8 synonymous SNV NOL8:NM_001330722:exon11:c.G2778A:p.K926K,NOL8:NM_017948:exon12:c.G2892A:p.K964K,NOL8:NM_001256394:exon13:c.G2688A:p.K896K 0.43 0.89 0.3 0.15 0.35 0.28 0.3620 0.8191 0.2146 0.1446 0.2931 0.3669 0.3345 0.3143 0.51 0.8 0.38 0.51 . rs1133908 COSM3982957;COSM3982958 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3505 0.8233 0.2364 0.4363 0.1377 0.2943 0.3660 0.3635 0.3149 0.4661 0.8022 0.2626 0.4503 0.1395 0.2920 0.3630 0.3881 het 626.52 86 9 95068046 . C T 626.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.450;DP=86;Dels=0.00;FS=3.247;HRun=2;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;MQRankSum=0.702;QD=7.29;ReadPosRankSum=-0.512;VQSLOD=4.7210;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,30:86:99:657,0,1563 9 95179071 95179071 G A exonic OMD nonsynonymous SNV OMD:NM_005014:exon2:c.C770T:p.P257L 0.0016 0.0015 . . 0.006 . 0.0024 0.0005 0.0010 0.0005 0.0030 0.0036 0.0022 0.0007 0.0028 0.0005 0.0041 . 0.016 rs34607425 . . . . . . . . . . . . . 0.017 0.512 D 0.993 0.637 D 0.913 0.631 D 0.002 0.371 N 1 0.810 D 2.31 0.663 M 0.26 0.593 T -6.45 0.914 D 0.558 0.592 -0.458 0.702 T 0.263 0.634 T 0.017 0.384 T 5.610 0.764 26.5 0.999 0.950 0.983 0.810 D c 0.761 0.744 0.999 0.399 0.487 0.133 0 4.5 0.542 6.227 0.720 1.044 0.665 1.000 0.715 0.992 0.562 15.364 0.741 Leucine-rich repeat domain\x2c L domain-like . . 0.0023 0.0005 0.0007 0.0061 0.0005 0.0026 0.0034 0.0024 0.0006 0.0019 0.0005 0 0.0033 0 0.0011 0.0031 0.0031 het 932.72 87 9 95179071 . G A 932.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.606;DP=87;Dels=0.00;FS=1.765;HRun=0;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;MQRankSum=0.777;QD=10.72;ReadPosRankSum=-0.399;VQSLOD=5.7871;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,37:87:99:963,0,1437 9 95219597 95219597 G A exonic ASPN synonymous SNV ASPN:NM_017680:exon9:c.C1113T:p.S371S 0.99 1. 0.99 1. 0.99 0.97 0.9841 0.9980 0.9949 1 0.9732 0.9845 0.9780 0.9626 0.99 1. 0.98 0.99 0.95 rs4744132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9841 0.9985 0.9951 0.9931 0.9998 0.9710 0.9838 0.9849 0.9639 0.9877 0.9977 0.9940 0.9934 1 0.9725 0.9837 0.9857 hom 1602.30 58 9 95219597 . G A 1602.30 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=27.63;VQSLOD=6.9516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1635,126,0 9 95274338 95274338 A G exonic ECM2 synonymous SNV ECM2:NM_001197295:exon5:c.T1059C:p.S353S,ECM2:NM_001197296:exon5:c.T1059C:p.S353S,ECM2:NM_001393:exon5:c.T1125C:p.S375S 0.41 0.78 0.29 0.15 0.36 0.29 0.3607 0.7115 0.2135 0.1463 0.2949 0.3765 0.3414 0.3183 0.49 0.7 0.38 0.42 0.4 rs2296667 COSM3982971;COSM3982970 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3499 0.7171 0.2341 0.4453 0.1396 0.2959 0.3766 0.3670 0.3199 0.4396 0.6979 0.2661 0.4536 0.1387 0.2936 0.3689 0.3900 het 1804.19 135 9 95274338 . A G 1804.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.030;DP=135;Dels=0.00;FS=4.197;HRun=0;HaplotypeScore=0.8941;MQ=59.04;MQ0=0;MQRankSum=0.782;QD=13.36;ReadPosRankSum=-0.350;VQSLOD=6.3086;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,70:135:99:1834,0,1549 9 95279985 95279985 C A exonic ECM2 synonymous SNV ECM2:NM_001197295:exon3:c.G465T:p.P155P,ECM2:NM_001197296:exon3:c.G465T:p.P155P,ECM2:NM_001393:exon3:c.G465T:p.P155P 0.33 0.76 0.24 0.089 0.29 0.13 0.2779 0.6827 0.1832 0.0864 0.2458 0.2912 0.2522 0.1504 0.42 0.66 0.29 0.4 0.21 rs968040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2685 0.6897 0.2007 0.3437 0.0790 0.2485 0.2894 0.2914 0.1503 0.3743 0.6602 0.2231 0.3642 0.0820 0.2428 0.2826 0.3126 het 3187.49 243 9 95279985 . C A 3187.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.701;DP=243;DS;Dels=0.00;FS=5.203;HRun=0;HaplotypeScore=3.7433;MQ=58.94;MQ0=0;MQRankSum=0.065;QD=13.12;ReadPosRankSum=-0.229;VQSLOD=5.4074;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,116:243:99:3217,0,3196 9 95284873 95284873 A G exonic ECM2 synonymous SNV ECM2:NM_001197295:exon2:c.T276C:p.S92S,ECM2:NM_001197296:exon2:c.T276C:p.S92S,ECM2:NM_001393:exon2:c.T276C:p.S92S 0.34 0.76 0.24 0.09 0.29 0.13 0.2860 0.6881 0.1865 0.0890 0.2487 0.2969 0.2610 0.1662 0.42 0.66 0.29 0.4 0.28 rs9299405 COSM150633;COSM4164091 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2680 0.6906 0.2005 0.3419 0.0790 0.2474 0.2890 0.2911 0.1493 0.3741 0.6599 0.2224 0.3667 0.0806 0.2433 0.2824 0.3136 het 546.94 45 9 95284873 . A G 546.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.765;DP=45;Dels=0.00;FS=4.491;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.421;QD=12.15;ReadPosRankSum=0.262;VQSLOD=6.2576;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:577,0,651 9 95284982 95284982 T G exonic ECM2 nonsynonymous SNV ECM2:NM_001197295:exon2:c.A167C:p.Q56P,ECM2:NM_001197296:exon2:c.A167C:p.Q56P,ECM2:NM_001393:exon2:c.A167C:p.Q56P 0.74 0.95 0.66 0.81 0.54 0.64 0.6214 0.9008 0.6360 0.7999 0.4850 0.5600 0.5980 0.6454 0.67 0.89 0.56 0.73 0.58 rs10120210 COSM3764061;COSM3764062 1(large_intestine) . . . . . . . . . . . 0.232 0.182 T 0.001 0.067 B 0.0 0.013 B 0.046 0.234 N 1 0.090 P 1.295 0.326 L 1.5 0.312 T 0.32 0.040 N 0.071 0.074 -1.064 0.108 T 0.000 0.000 T . . . -0.690 0.045 0.076 0.657 0.076 0.053 0.111 N c -1.251 -1.271 0.920 0.266 0.554 0.246 0 -0.673 0.108 -0.493 0.065 -1.090 0.019 0.000 0.063 0.000 0.016 3.366 0.067 . ENSG00000106823.8|ENSG00000127080.5|ENSG00000188312.9|ENSG00000106823.8|ENSG00000106809.6|ENSG00000188312.9|ENSG00000106809.6 Artery_Aorta|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial 0.6186 0.9050 0.6382 0.6675 0.8033 0.4894 0.5583 0.6224 0.6473 0.6523 0.8888 0.5993 0.6523 0.8226 0.4940 0.5398 0.5971 het 2118.10 197 9 95284982 . T G 2118.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.010;DP=197;Dels=0.00;FS=1.796;HRun=1;HaplotypeScore=1.9937;MQ=59.34;MQ0=0;MQRankSum=0.765;QD=10.75;ReadPosRankSum=-0.126;VQSLOD=6.0667;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,93:197:99:2148,0,2565 9 95780465 95780465 A G exonic FGD3 synonymous SNV FGD3:NM_001083536:exon11:c.A1323G:p.T441T,FGD3:NM_001286993:exon11:c.A1323G:p.T441T,FGD3:NM_033086:exon11:c.A1323G:p.T441T 1. 1. 1. 1. 0.99 1. 0.9957 0.9998 0.9994 1 0.9865 0.9938 0.9967 1 1. 1. 1. 0.99 1. rs7048975 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9959 0.9995 0.9990 1 1 0.9848 0.9945 0.9962 1.0000 0.9946 0.9992 1 1 1 0.9851 0.9932 0.9929 hom 3397.48 112 9 95780465 . A G 3397.48 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=30.33;VQSLOD=8.4035;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3397,271,0 9 95872885 95872885 C T exonic CARD19 synonymous SNV CARD19:NM_001318011:exon3:c.C186T:p.L62L,CARD19:NM_032310:exon3:c.C186T:p.L62L 0.059 0.036 0.062 0.002 0.16 0.045 0.1145 0.0448 0.0611 0.0030 0.1440 0.1579 0.1099 0.0650 0.11 0.047 0.15 0.065 0.14 rs17593496 COSM1180463 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1109 0.0441 0.0625 0.1460 0.0033 0.1364 0.1566 0.1245 0.0608 0.1097 0.0490 0.0835 0.1424 0.0049 0.1400 0.1494 0.1224 het 2367.58 168 9 95872885 . C T 2367.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.294;DP=168;Dels=0.00;FS=0.576;HRun=1;HaplotypeScore=7.5214;MQ=58.26;MQ0=0;MQRankSum=0.593;QD=14.09;ReadPosRankSum=-2.164;VQSLOD=4.0542;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,90:168:99:2398,0,1949 9 95887320 95887320 G T exonic NINJ1 nonsynonymous SNV NINJ1:NM_004148:exon3:c.C329A:p.A110D 0.79 0.62 0.88 0.87 0.81 0.84 0.8050 0.6675 0.8901 0.8901 0.7662 0.8009 0.7980 0.8201 0.77 0.68 0.81 0.74 0.8 rs2275848 COSM4407264 1(liver) . . . . . Obesity (early onset extreme) 1.23 . 23563609 rs2275848 1E-6 0.541 0.068 T 0.936 0.504 P 0.799 0.563 P 0.000 0.523 D 0.001 0.457 P 1.01 0.254 L 0.97 0.425 T -2.03 0.466 N 0.059 0.043 -1.030 0.204 T 0.000 0.000 T . . . 2.069 0.310 16.65 0.991 0.510 0.856 0.444 D c -0.116 -0.134 1.000 0.747 0.706 0.609 0 2.51 0.293 1.837 0.386 0.050 0.161 0.999 0.424 0.936 0.409 12.090 0.528 . ENSG00000131669.5|ENSG00000131669.5|ENSG00000131669.5|ENSG00000131669.5|ENSG00000131669.5|ENSG00000131669.5 Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Thyroid 0.8103 0.6617 0.8921 0.7886 0.8909 0.7723 0.8014 0.7967 0.8190 0.7683 0.6721 0.8675 0.7748 0.9040 0.7770 0.7997 0.8027 het 1476.06 108 9 95887320 . G T 1476.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.566;DP=108;Dels=0.00;FS=2.873;HRun=0;HaplotypeScore=0.9734;MQ=58.99;MQ0=0;MQRankSum=2.253;QD=13.67;ReadPosRankSum=-1.337;VQSLOD=5.5510;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,55:108:99:1506,0,1426 9 96015256 96015256 C T exonic WNK2 synonymous SNV WNK2:NM_001282394:exon8:c.C1926T:p.D642D,WNK2:NM_006648:exon8:c.C1926T:p.D642D 0.32 0.062 0.51 0.43 0.47 0.24 0.4840 0.1751 0.6863 0.5160 0.5278 0.5513 0.4609 0.2985 0.37 0.14 0.49 0.33 . rs4744201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4467 0.1128 0.6198 0.4214 0.4322 0.4653 0.4883 0.4402 0.2685 0.3945 0.1299 0.6067 0.3940 0.4387 0.4745 0.5109 0.4356 het 142.80 10 9 96015256 . C T 142.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=60.00;MQ0=0;MQRankSum=-1.386;QD=14.28;ReadPosRankSum=0.296;VQSLOD=6.0704;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:77.77:173,0,78 9 96021312 96021312 G A exonic WNK2 nonsynonymous SNV WNK2:NM_001282394:exon11:c.G2482A:p.V828M,WNK2:NM_006648:exon11:c.G2482A:p.V828M 0.31 0.068 0.51 0.43 0.46 0.24 0.4327 0.1343 0.6464 0.4541 0.4444 0.4801 0.4058 0.2642 0.37 0.15 0.48 0.34 . rs10761203 COSM456261;COSM4164110;COSM4164109;COSM456262 2(thyroid) . . . . . . . . . . . 0.013 0.784 D 0.675 0.408 P 0.056 0.292 B 0.290 0.148 N 1 0.222 P 2.35 0.677 M -0.72 0.730 T -1.57 0.379 N 0.294 0.354 -0.915 0.462 T 0.000 0.000 T . . . 2.757 0.392 21.1 0.989 0.479 0.272 0.230 N c -0.387 -0.372 0.980 0.300 0.696 0.567 0 2.9 0.327 0.938 0.284 0.949 0.536 0.228 0.244 0.024 0.140 3.581 0.074 . ENSG00000203364.2|ENSG00000165238.12 Thyroid|Thyroid 0.4442 0.1257 0.6272 0.4188 0.4542 0.4339 0.4839 0.4424 0.2690 0.3837 0.1329 0.6014 0.3933 0.4368 0.4357 0.4975 0.4234 het 560.65 42 9 96021312 . G A 560.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.038;DP=42;Dels=0.00;FS=2.709;HRun=0;HaplotypeScore=0.8667;MQ=59.16;MQ0=0;MQRankSum=-0.453;QD=13.35;ReadPosRankSum=1.887;VQSLOD=6.0483;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,21:42:99:591,0,586 9 96051521 96051521 A G exonic WNK2 synonymous SNV WNK2:NM_006648:exon19:c.A4485G:p.Q1495Q,WNK2:NM_001282394:exon20:c.A4596G:p.Q1532Q 0.92 0.78 0.97 1. 0.96 0.97 0.9500 0.8026 0.9780 0.9997 0.9683 0.9543 0.9666 0.9572 0.91 0.82 0.95 0.88 . rs2169756 COSM3750190;COSM3750191;COSM3750189 12(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9538 0.7994 0.9754 0.9807 0.9999 0.9709 0.9525 0.9578 0.9579 0.9124 0.7950 0.9749 0.9934 1 0.9708 0.9491 0.9641 hom 338.55 12 9 96051521 . A G 338.55 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.21;VQSLOD=12.8158;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:372,30,0 9 96052295 96052295 C G exonic WNK2 synonymous SNV WNK2:NM_006648:exon20:c.C4902G:p.A1634A,WNK2:NM_001282394:exon21:c.C5013G:p.A1671A 0.1 0.057 0.19 0.079 0.17 0.054 0.1783 0.0926 0.3300 0.1570 0.3512 0.2253 0.2185 0.0577 0.11 0.065 0.13 0.11 . rs4744216 COSM4407283;COSM4407282;COSM4407284;COSM4407285 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1160 0.0568 0.1486 0.1171 0.0633 0.1633 0.1316 0.1348 0.0459 0.1127 0.0606 0.1754 0.15 0.0660 0.1604 0.1308 0.1411 het 144.94 14 9 96052295 . C G 144.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.065;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=-0.581;QD=10.35;ReadPosRankSum=-1.485;VQSLOD=5.1534;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:175,0,168 9 96055063 96055063 C T exonic WNK2 synonymous SNV WNK2:NM_006648:exon22:c.C5316T:p.D1772D,WNK2:NM_001282394:exon23:c.C5427T:p.D1809D 0.39 0.35 0.3 0.42 0.31 0.57 0.4516 0.3952 0.4034 0.5198 0.4222 0.4088 0.4419 0.5650 0.31 0.34 0.29 0.37 . rs41278286 COSM3764069;COSM456267;COSM456268;COSM3764070 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3410 0.3505 0.2530 0.3533 0.3942 0.3113 0.3070 0.3394 0.5144 0.3147 0.3474 0.2625 0.37 0.3994 0.3024 0.2891 0.3488 het 131.58 14 9 96055063 . C T 131.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.068;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.28;MQ0=0;MQRankSum=-0.201;QD=9.40;ReadPosRankSum=-0.780;VQSLOD=5.9049;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:162,0,168 9 96209943 96209943 T C exonic FAM120AOS nonsynonymous SNV FAM120AOS:NM_001322224:exon3:c.A175G:p.K59E,FAM120AOS:NM_198841:exon3:c.A721G:p.K241E 0.23 0.036 0.31 0.41 0.35 0.11 0.2970 0.0774 0.3412 0.4424 0.3715 0.3341 0.3024 0.1482 0.25 0.091 0.34 0.24 0.32 rs10821128 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 0.44 0.574 T -1.27 0.320 N 0.034 0.023 -0.939 0.428 T 0.000 0.000 T . . . -0.782 0.041 0.047 0.544 0.050 0.003 0.018 N c -1.401 -1.482 1.000 0.418 0.719 0.830 0 -1.41 0.084 -1.280 0.029 -1.315 0.013 0.000 0.063 0.000 0.016 5.358 0.153 . . . 0.3031 0.0714 0.3344 0.3022 0.4375 0.3621 0.3347 0.3055 0.1513 0.2815 0.0767 0.3621 0.3013 0.4164 0.3712 0.3596 0.2957 het 1847.77 131 9 96209943 . T C 1847.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.204;DP=131;Dels=0.00;FS=1.451;HRun=0;HaplotypeScore=2.2880;MQ=59.11;MQ0=0;MQRankSum=2.075;QD=14.11;ReadPosRankSum=-0.405;VQSLOD=6.1165;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,72:131:99:1878,0,1471 9 96212813 96212813 C T exonic FAM120AOS nonsynonymous SNV FAM120AOS:NM_001322224:exon2:c.G86A:p.S29N,FAM120AOS:NM_198841:exon2:c.G632A:p.S211N 0.024 0.0061 0.03 0.025 0.049 0.017 0.0532 0.0149 0.0220 0.0295 0.0689 0.0744 0.0471 0.0178 0.052 0.017 0.069 0.022 0.074 rs41274386 . . . . . . . . . . . . . 0.0 0.912 D 0.463 0.346 P 0.277 0.385 B . . . 1 0.090 N 0 0.065 N 0.44 0.574 T -2.6 0.559 D 0.06 0.062 -1.080 0.073 T 0.008 0.029 T . . . -0.024 0.091 2.362 0.863 0.159 0.040 0.093 N c -0.965 -1.052 1.000 0.747 0.660 0.490 0 1.69 0.232 -0.244 0.088 0.007 0.138 0.005 0.169 0.002 0.062 6.791 0.227 . ENSG00000227603.1|ENSG00000227603.1|ENSG00000227603.1|ENSG00000227603.1|ENSG00000227603.1|ENSG00000227603.1|ENSG00000227603.1|ENSG00000227603.1|ENSG00000227603.1|ENSG00000227603.1|ENSG00000227603.1 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.0516 0.0138 0.0230 0.0759 0.0275 0.0666 0.0729 0.0590 0.0165 0.0495 0.0152 0.0287 0.1026 0.0278 0.0647 0.0679 0.0575 het 1502.65 109 9 96212813 . C T 1502.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.647;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7981;MQ=58.94;MQ0=0;MQRankSum=-1.448;QD=13.79;ReadPosRankSum=-0.264;VQSLOD=4.6637;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,58:109:99:1533,0,1437 9 96214928 96214928 G A exonic FAM120AOS nonsynonymous SNV FAM120AOS:NM_198841:exon1:c.C64T:p.L22F 0.29 0.22 0.33 0.42 0.35 0.15 0.3201 0.2394 0.3560 0.4570 0.3739 0.3364 0.3203 0.1827 0.27 0.22 0.3 0.35 0.27 rs1055710 COSM3764072 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.258 0.167 T 0.048 0.207 B 0.015 0.162 B . . . 1.000 0.090 P 0 0.065 N 0.51 0.555 T -1.38 0.342 N 0.023 0.006 -0.953 0.405 T 0.000 0.000 T . . . -0.765 0.042 0.051 0.979 0.362 0.026 0.070 N c -1.435 -1.553 1.000 0.747 0.455 0.088 0 -6.63 0.016 -1.543 0.023 -0.098 0.117 0.000 0.063 0.004 0.083 2.120 0.035 . . . 0.3191 0.2300 0.3468 0.3074 0.4515 0.3647 0.3351 0.3175 0.1845 0.3290 0.2378 0.3735 0.3033 0.4325 0.3713 0.3604 0.3102 het 511.03 41 9 96214928 . G A 511.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9993;MQ=58.93;MQ0=0;MQRankSum=0.743;QD=12.46;ReadPosRankSum=-0.822;VQSLOD=6.2720;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,21:41:99:541,0,556 9 96238578 96238578 C T exonic FAM120A synonymous SNV FAM120A:NM_001286722:exon3:c.C762T:p.H254H,FAM120A:NM_001286723:exon3:c.C762T:p.H254H,FAM120A:NM_001286724:exon3:c.C762T:p.H254H,FAM120A:NM_014612:exon3:c.C762T:p.H254H 0.52 0.68 0.56 0.6 0.5 0.24 0.4968 0.6595 0.5320 0.6217 0.5481 0.4955 0.4690 0.2905 0.55 0.66 0.49 0.53 0.51 rs10821135 COSM150634;COSM3982982;COSM3982981 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4943 0.6616 0.5214 0.4961 0.6164 0.5371 0.4914 0.4897 0.2931 0.5620 0.6572 0.5408 0.5033 0.5953 0.5378 0.5165 0.4796 hom 3329.40 118 9 96238578 . C T 3329.40 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.1992;MQ=58.92;MQ0=0;QD=28.22;VQSLOD=8.2658;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3329,250,0 9 96714491 96714491 C G exonic BARX1 synonymous SNV BARX1:NM_021570:exon4:c.G720C:p.P240P 0.2 0.18 0.32 0.093 0.28 0.19 0.2555 0.1919 0.3096 0.0871 0.3253 0.2817 0.2893 0.2125 0.25 0.2 0.28 0.24 0.25 rs11793856 COSM3764073 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2565 0.1879 0.3158 0.2940 0.0815 0.3103 0.2756 0.2591 0.2088 0.2493 0.1867 0.3473 0.2815 0.0863 0.3266 0.2783 0.2643 het 428.79 39 9 96714491 . C G 428.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DP=39;Dels=0.00;FS=5.072;HRun=2;HaplotypeScore=1.6988;MQ=56.25;MQ0=0;MQRankSum=1.173;QD=10.99;ReadPosRankSum=-0.747;VQSLOD=2.5584;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,18:39:99:459,0,524 9 97055310 97055310 C T exonic ZNF169 nonsynonymous SNV ZNF169:NM_003448:exon4:c.C215T:p.P72L,ZNF169:NM_194320:exon4:c.C215T:p.P72L 0.18 0.25 0.16 0.057 0.18 0.25 0.1862 0.2542 0.1381 0.0537 0.1943 0.1884 0.2116 0.2359 0.2 0.25 0.18 0.22 0.2 rs1536690 COSM3764075;COSM3764074 1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.997 0.689 D 0.88 0.607 P . . . 0.001 0.588 P 1.655 0.426 L 2.93 0.098 T -4.78 0.805 D 0.148 0.378 -1.007 0.279 T 0.000 0.000 T . . . 3.671 0.498 23.3 0.995 0.682 0.200 0.207 N c 0.023 -0.130 0.988 0.313 0.563 0.310 0 3.09 0.345 1.211 0.318 0.834 0.340 0.002 0.151 0.309 0.239 9.822 0.399 Krueppel-associated box ENSG00000232063.1|ENSG00000148110.11|ENSG00000232063.1|ENSG00000148110.11|ENSG00000148110.11|ENSG00000232063.1|ENSG00000148110.11|ENSG00000148110.11|ENSG00000232063.1|ENSG00000148110.11|ENSG00000148110.11|ENSG00000232063.1|ENSG00000148110.11|ENSG00000148110.11|ENSG00000148110.11|ENSG00000148110.11|ENSG00000148110.11|ENSG00000148110.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.1788 0.2496 0.1397 0.2685 0.0528 0.1922 0.1753 0.2021 0.2274 0.1894 0.2487 0.1456 0.2682 0.0470 0.1840 0.1738 0.1697 het 997.61 80 9 97055310 . C T 997.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.436;DP=80;Dels=0.00;FS=0.857;HRun=2;HaplotypeScore=0.7887;MQ=58.71;MQ0=0;MQRankSum=0.574;QD=12.47;ReadPosRankSum=0.554;VQSLOD=6.4107;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:1028,0,984 9 97349666 97349666 C G exonic FBP2 nonsynonymous SNV FBP2:NM_003837:exon2:c.G256C:p.V86L 0.86 0.94 0.81 0.81 0.88 0.84 0.8609 0.9244 0.7842 0.7962 0.8895 0.8777 0.8491 0.8299 0.89 0.92 0.87 0.91 0.86 rs573212 COSM5002490 1(bone);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 0.864 0.283 P -2.595 0.000 N 0.31 0.586 T 2.61 0.002 N 0.11 0.118 -0.913 0.465 T 0.000 0.000 T . . . 1.604 0.254 13.87 0.380 0.025 0.179 0.198 N c -0.828 -0.458 1.000 0.747 0.487 0.133 0 5.82 0.927 5.576 0.669 0.136 0.221 1.000 0.715 0.951 0.427 17.163 0.866 . . . 0.8581 0.9260 0.7957 0.8577 0.7980 0.8996 0.8755 0.8665 0.8315 0.8887 0.9262 0.8198 0.8676 0.7698 0.8966 0.8834 0.8717 hom 5657.78 167 9 97349666 . C G 5657.78 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9966;MQ=59.25;MQ0=0;QD=33.88;VQSLOD=9.5946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5657,442,0 9 97365720 97365720 T C exonic FBP1 synonymous SNV FBP1:NM_000507:exon7:c.A960G:p.G320G,FBP1:NM_001127628:exon8:c.A960G:p.G320G 0.91 0.98 0.92 0.96 0.85 0.8 0.8637 0.9676 0.9094 0.9563 0.8115 0.8479 0.8252 0.8046 0.89 0.96 0.85 0.95 0.89 rs1769257 COSM3774392 1(kidney);1(liver) Benign|Benign not_specified|Fructose-biphosphatase_deficiency RCV000242276.1|RCV000329413.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0016756:229700:ORPHA348:28183005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8615 0.9680 0.8989 0.8872 0.9555 0.8064 0.8461 0.8540 0.8038 0.8883 0.9652 0.9005 0.8709 0.9635 0.8176 0.8529 0.8684 hom 1923.27 65 9 97365720 . T C 1923.27 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=29.59;VQSLOD=8.2752;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1956,153,0 9 97369149 97369149 C T exonic FBP1 nonsynonymous SNV FBP1:NM_000507:exon5:c.G653A:p.R218K,FBP1:NM_001127628:exon6:c.G653A:p.R218K 0.98 0.99 0.99 1. 0.96 0.95 0.9561 0.9856 0.9831 0.9999 0.9415 0.9441 0.9405 0.9508 0.95 0.98 0.94 0.66 0.79 rs1769259 . . Benign|Benign not_specified|Fructose-biphosphatase_deficiency RCV000250848.1|RCV000336163.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0016756:229700:ORPHA348:28183005 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.002 0.367 N 1.000 0.090 P -0.16 0.043 N -0.76 0.734 T 0.81 0.021 N 0.04 0.020 -0.943 0.421 T 0.000 0.000 T . . . 1.916 0.291 15.69 0.790 0.121 0.281 0.232 N c -0.877 -0.650 1.000 0.419 0.615 0.372 0 1.55 0.222 0.154 0.160 -0.215 0.099 0.989 0.365 0.982 0.498 6.045 0.189 . . . 0.9559 0.9860 0.9800 0.9625 0.9998 0.9442 0.9403 0.9541 0.9535 0.9601 0.9860 0.9761 0.9570 1 0.9427 0.9440 0.9582 hom 4203.58 130 9 97369149 . C T 4203.58 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.0857;MQ=59.29;MQ0=0;QD=32.34;VQSLOD=8.5310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4203,325,0 9 97369151 97369151 G A exonic FBP1 synonymous SNV FBP1:NM_000507:exon5:c.C651T:p.A217A,FBP1:NM_001127628:exon6:c.C651T:p.A217A 0.35 0.27 0.2 0.55 0.35 0.37 0.3339 0.2669 0.1867 0.5504 0.3823 0.3265 0.3326 0.3769 0.31 0.28 0.33 . 0.18 rs1042144 COSM3764079 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign not_specified|Fructose-biphosphatase_deficiency RCV000246106.1|RCV000405782.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0016756:229700:ORPHA348:28183005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3292 0.2704 0.1865 0.2275 0.5496 0.3804 0.3333 0.3095 0.3752 0.3198 0.2620 0.2053 0.1954 0.5261 0.3904 0.3223 0.3408 het 1409.41 130 9 97369151 . G A 1409.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.009;DP=130;Dels=0.00;FS=3.713;HRun=0;HaplotypeScore=2.4649;MQ=59.29;MQ0=0;MQRankSum=0.068;QD=10.84;ReadPosRankSum=-0.082;VQSLOD=6.0424;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,58:130:99:1439,0,2039 9 99250463 99250463 C T exonic HABP4 synonymous SNV HABP4:NM_014282:exon7:c.C1092T:p.L364L 0.19 0.44 0.11 0.025 0.17 0.09 0.1713 0.4084 0.0857 0.0170 0.1589 0.1850 0.1336 0.1144 0.26 0.41 0.18 0.13 0.22 rs7030316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1639 0.4177 0.0964 0.2197 0.0147 0.1571 0.1816 0.1631 0.1175 0.2331 0.4124 0.1169 0.2367 0.0148 0.1637 0.1788 0.1772 het 1382.85 113 9 99250463 . C T 1382.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.148;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7750;MQ=61.43;MQ0=0;MQRankSum=-0.752;QD=12.24;ReadPosRankSum=-0.297;VQSLOD=2.7006;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,52:113:99:1413,0,1719 9 99581568 99581568 T C exonic ZNF782 nonsynonymous SNV ZNF782:NM_001346993:exon4:c.A665G:p.N222S,ZNF782:NM_001346995:exon4:c.A341G:p.N114S,ZNF782:NM_001346991:exon5:c.A737G:p.N246S,ZNF782:NM_001001662:exon6:c.A737G:p.N246S 0.032 0.0023 0.052 0.002 0.11 0.011 0.0744 0.0199 0.0480 0.0002 0.0844 0.1102 0.0632 0.0159 0.079 0.02 0.11 0.011 0.082 rs34763627 . . . . . . . . . . . . . 0.243 0.175 T 0.002 0.090 B 0.002 0.063 B 0.530 0.116 N 1 0.090 N 1.01 0.254 L 3.51 0.137 T -1.59 0.383 N 0.008 0.008 -0.934 0.435 T 0.000 0.001 T . . . -1.298 0.022 0.005 0.662 0.077 0.000 0.001 N c -1.420 -1.492 0.014 0.125 0.651 0.465 0 -3.52 0.044 -1.241 0.030 -0.396 0.063 0.000 0.063 0.124 0.197 3.813 0.083 . ENSG00000130956.9 Testis 0.0745 0.0183 0.0520 0.1645 5.819e-05 0.0817 0.1067 0.0806 0.0164 0.0712 0.0188 0.0704 0.1788 0 0.0819 0.1050 0.0692 het 1266.94 105 9 99581568 . T C 1266.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.406;DP=105;Dels=0.00;FS=3.643;HRun=0;HaplotypeScore=10.0270;MQ=58.72;MQ0=0;MQRankSum=0.561;QD=12.07;ReadPosRankSum=-0.356;VQSLOD=4.0069;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,53:105:99:1297,0,1217 9 100190780 100190780 A G exonic TDRD7 synonymous SNV TDRD7:NM_014290:exon2:c.A33G:p.L11L 0.54 0.61 0.6 0.58 0.51 0.41 0.5075 0.6091 0.5858 0.5583 0.4918 0.4913 0.4703 0.4361 0.52 0.6 0.48 0.53 0.5 rs1381532 COSM3982624 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Congenital_cataract RCV000249754.1|RCV000385372.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5073 0.6086 0.5810 0.4768 0.5605 0.4859 0.4900 0.4967 0.4363 0.5351 0.6205 0.5742 0.4768 0.5682 0.4808 0.4966 0.4887 het 1726.41 131 9 100190780 . A G 1726.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.571;DP=131;Dels=0.00;FS=8.663;HRun=0;HaplotypeScore=5.7771;MQ=59.01;MQ0=0;MQRankSum=1.338;QD=13.18;ReadPosRankSum=-0.076;VQSLOD=4.6206;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,63:131:99:1756,0,1633 9 100194406 100194406 T C exonic TDRD7 nonsynonymous SNV TDRD7:NM_001302884:exon3:c.T227C:p.V76A,TDRD7:NM_014290:exon4:c.T449C:p.V150A 0.54 0.61 0.6 0.58 0.51 0.41 0.5072 0.6089 0.5845 0.5579 0.4917 0.4911 0.4703 0.4365 0.52 0.6 0.48 0.53 0.49 rs2045732 COSM150645 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(prostate);1(large_intestine) Benign|Benign not_specified|Congenital_cataract RCV000253314.1|RCV000402558.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . 0.691 0.043 T 0.01 0.144 B 0.002 0.063 B 0.131 0.028 N 1 0.090 P -0.69 0.019 N 2.7 0.122 T -0.08 0.082 N 0.004 0.000 -0.955 0.402 T 0.000 0.000 T . . . -1.358 0.020 0.004 0.497 0.042 0.128 0.173 N c -1.495 -1.449 0.991 0.322 0.707 0.730 0 0.998 0.189 0.042 0.137 -0.292 0.083 0.040 0.208 0.520 0.274 5.770 0.174 . . . 0.5072 0.6083 0.5805 0.4770 0.5596 0.4859 0.4900 0.4965 0.4368 0.5351 0.6205 0.5757 0.4733 0.5646 0.4805 0.4973 0.4857 het 1734.27 167 9 100194406 . T C 1734.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.869;DP=167;Dels=0.00;FS=2.779;HRun=0;HaplotypeScore=4.6017;MQ=58.61;MQ0=0;MQRankSum=0.977;QD=10.38;ReadPosRankSum=-0.997;VQSLOD=5.2855;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:98,68:167:99:1764,0,2607 9 100388119 100388119 G T exonic TSTD2 nonsynonymous SNV TSTD2:NM_139246:exon3:c.C326A:p.A109D 0.22 0.099 0.12 0.25 0.22 0.41 0.2168 0.1099 0.0912 0.2565 0.2588 0.2046 0.2329 0.3828 0.16 0.11 0.19 0.18 0.13 rs10817858 COSM150646 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate);4(large_intestine) . . . . . . . . . . . 0.547 0.066 T 0.02 0.170 B 0.011 0.145 B 0.594 0.110 N 1 0.186 P 2.595 0.761 M 1.46 0.322 T -0.15 0.093 N 0.051 0.035 -0.981 0.348 T 0.000 0.000 T . . . 0.624 0.154 8.319 0.987 0.442 0.036 0.087 N c -0.776 -0.761 1.000 0.419 0.707 0.730 0 1.8 0.240 -0.005 0.127 1.048 0.713 0.000 0.063 0.994 0.587 1.649 0.026 . ENSG00000136925.10|ENSG00000136925.10 Artery_Tibial|Heart_Left_Ventricle 0.2118 0.1085 0.0948 0.1774 0.2538 0.2551 0.2037 0.2004 0.3780 0.1815 0.1133 0.1244 0.1954 0.2587 0.2454 0.1993 0.2067 het 1373.35 121 9 100388119 . G T 1373.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.119;DP=121;Dels=0.00;FS=0.697;HRun=0;HaplotypeScore=0.9159;MQ=58.17;MQ0=0;MQRankSum=-0.382;QD=11.35;ReadPosRankSum=-0.247;VQSLOD=5.2083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,57:121:99:1403,0,1762 9 100388197 100388197 C T exonic TSTD2 nonsynonymous SNV TSTD2:NM_139246:exon3:c.G248A:p.R83Q 0.64 0.77 0.7 0.52 0.67 0.5 0.6352 0.7754 0.6317 0.5013 0.6413 0.6569 0.6311 0.5291 0.71 0.78 0.67 0.54 0.7 rs2773347 COSM3763473 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.001 0.040 B 0.001 0.432 N 1.000 0.588 P -2.78 0.000 N 1.59 0.288 T 0.48 0.030 N 0.036 0.017 -0.973 0.365 T 0.000 0.000 T . . . 1.652 0.260 14.14 0.185 0.006 0.141 0.180 N c -1.108 -0.862 1.000 0.473 0.707 0.730 0 2.33 0.279 1.234 0.320 0.154 0.240 0.958 0.332 0.925 0.399 3.629 0.076 . ENSG00000136925.10|ENSG00000136925.10|ENSG00000136936.6|ENSG00000136925.10|ENSG00000136936.6 Adrenal_Gland|Artery_Tibial|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal 0.6336 0.7750 0.6272 0.6284 0.5096 0.6396 0.6613 0.6541 0.5327 0.6855 0.7768 0.6241 0.6126 0.5093 0.6469 0.6659 0.6759 het 1109.54 81 9 100388197 . C T 1109.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.397;DP=81;Dels=0.00;FS=0.960;HRun=0;HaplotypeScore=2.7214;MQ=59.43;MQ0=0;MQRankSum=-0.439;QD=13.70;ReadPosRankSum=-0.269;VQSLOD=6.5942;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,40:81:99:1140,0,911 9 100616583 100616583 T C exonic FOXE1 synonymous SNV FOXE1:NM_004473:exon1:c.T387C:p.L129L 0.88 0.97 0.83 0.99 0.76 0.82 0.8005 0.9430 0.8571 0.9972 0.8215 0.7443 0.7707 0.7869 0.8 0.93 0.74 0.022 0.69 rs3021523 COSM4163149 2(thyroid) Benign not_specified RCV000081101.5 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8010 0.9475 0.8547 0.7684 0.9982 0.8176 0.7394 0.7882 0.7837 0.8144 0.9377 0.8575 0.7583 0.9988 0.8069 0.7245 0.7878 hom 1845.17 65 9 100616583 . T C 1845.17 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.07;MQ0=0;QD=28.39;VQSLOD=7.6998;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1878,171,0 9 100689693 100689693 A G exonic HEMGN synonymous SNV HEMGN:NM_197978:exon4:c.T1428C:p.N476N,HEMGN:NM_018437:exon5:c.T1428C:p.N476N 0.081 0.024 0.14 0.0089 0.15 0.12 0.1051 0.0356 0.1484 0.0071 0.1780 0.1092 0.1391 0.1221 0.083 0.039 0.11 0.12 0.13 rs1059003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1097 0.0338 0.1418 0.1377 0.0072 0.1876 0.1048 0.1263 0.1199 0.0919 0.0343 0.1435 0.1159 0.0111 0.1840 0.1069 0.1286 hom 4261.66 152 9 100689693 . A G 4261.66 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=58.76;MQ0=0;QD=28.04;VQSLOD=8.5152;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:4261,331,0 9 100895443 100895443 C T exonic CORO2A synonymous SNV CORO2A:NM_003389:exon5:c.G525A:p.T175T,CORO2A:NM_052820:exon5:c.G525A:p.T175T 0.059 0.003 0.085 0.035 0.099 0.097 0.0959 0.0206 0.0698 0.0474 0.1083 0.1126 0.1004 0.1145 0.085 0.025 0.12 0.011 0.12 rs735111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0948 0.0184 0.0674 0.0591 0.0488 0.1075 0.1161 0.0939 0.1136 0.0909 0.0220 0.0800 0.0795 0.0530 0.1128 0.1288 0.1214 het 2080.91 191 9 100895443 . C T 2080.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.953;DP=191;Dels=0.00;FS=2.538;HRun=1;HaplotypeScore=2.7982;MQ=59.09;MQ0=0;MQRankSum=-0.490;QD=10.89;ReadPosRankSum=0.107;VQSLOD=6.3402;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,83:191:99:2111,0,2786 9 100971348 100971348 T C exonic TBC1D2 synonymous SNV TBC1D2:NM_001267572:exon3:c.A372G:p.A124A,TBC1D2:NM_001267571:exon9:c.A1752G:p.A584A,TBC1D2:NM_018421:exon9:c.A1752G:p.A584A 0.6 0.77 0.54 0.5 0.57 0.54 0.5711 0.7571 0.4968 0.5221 0.5771 0.5700 0.5607 0.5342 0.62 0.75 0.56 0.55 0.47 rs3739666 COSM1458848;COSM3982629 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5663 0.7613 0.5006 0.5959 0.5293 0.5752 0.5685 0.5808 0.5353 0.6282 0.7624 0.5048 0.5596 0.5149 0.5848 0.5829 0.5949 het 3095.11 250 9 100971348 . T C 3095.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.319;DP=250;DS;Dels=0.00;FS=4.208;HRun=0;HaplotypeScore=9.7231;MQ=59.34;MQ0=0;MQRankSum=0.514;QD=12.38;ReadPosRankSum=0.155;VQSLOD=4.4738;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,113:250:99:3125,0,3799 9 100991430 100991430 C A exonic TBC1D2 nonsynonymous SNV TBC1D2:NM_001267571:exon5:c.G782T:p.G261V,TBC1D2:NM_018421:exon5:c.G782T:p.G261V 0.16 0.14 0.2 0.16 0.18 0.16 0.1692 0.1365 0.1866 0.1517 0.1864 0.1717 0.1648 0.1698 0.16 0.14 0.17 0.23 0.18 rs1573025 . . . . . . . . . . . . . 0.327 0.332 T 0.501 0.532 P 0.116 0.479 B 0.147 0.181 N 0.382 0.327 P 1.655 0.426 L 2.59 0.133 T -2.14 0.486 N 0.073 0.062 -0.987 0.333 T 0.000 0.000 T . . . 1.049 0.195 10.94 0.955 0.264 0.338 0.247 N c -0.539 -0.606 1.000 0.418 0.615 0.372 0 1.59 0.225 0.508 0.222 -0.342 0.072 0.323 0.253 0.839 0.350 3.32 0.066 . ENSG00000095383.15|ENSG00000095383.15|ENSG00000095383.15|ENSG00000095383.15|ENSG00000095383.15 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.1706 0.1373 0.1863 0.1130 0.1510 0.1834 0.1748 0.1830 0.1725 0.1694 0.1354 0.2081 0.1490 0.1399 0.1883 0.1865 0.1633 het 988.16 88 9 100991430 . C A 988.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.894;DP=88;Dels=0.00;FS=7.129;HRun=0;HaplotypeScore=2.3322;MQ=59.31;MQ0=0;MQRankSum=1.165;QD=11.23;ReadPosRankSum=0.246;VQSLOD=5.0589;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,42:88:99:1018,0,1247 9 100995721 100995721 A G exonic TBC1D2 nonsynonymous SNV TBC1D2:NM_001267571:exon4:c.T758C:p.L253S,TBC1D2:NM_018421:exon4:c.T758C:p.L253S 0.41 0.8 0.34 0.18 0.34 0.26 0.3402 0.7475 0.2743 0.1631 0.3265 0.3276 0.3274 0.2792 0.46 0.74 0.32 0.49 0.35 rs879369 COSM3982630 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.858 0.219 T 0.003 0.112 B 0.001 0.063 B 0.135 0.028 N 1 0.090 P -0.38 0.030 N 2.61 0.131 T 0.88 0.034 N 0.021 0.005 -0.984 0.340 T 0.000 0.000 T . . . -2.496 0.003 0.001 0.256 0.012 0.002 0.012 N c -2.053 -2.120 1.000 0.747 0.707 0.730 0 -5.96 0.020 -1.920 0.017 -1.684 0.008 0.000 0.063 0.000 0.016 15.990 0.799 . ENSG00000095383.15|ENSG00000095383.15|ENSG00000095383.15|ENSG00000106789.8|ENSG00000095383.15|ENSG00000178919.7|ENSG00000106789.8 Esophagus_Mucosa|Lung|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood 0.3315 0.7608 0.2822 0.3884 0.1630 0.3258 0.3219 0.3513 0.2834 0.4462 0.7443 0.3098 0.3767 0.1538 0.3434 0.3438 0.3456 het 1521.57 133 9 100995721 . A G 1521.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.225;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4936;MQ=59.50;MQ0=0;MQRankSum=-1.831;QD=11.44;ReadPosRankSum=1.664;VQSLOD=3.6752;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,61:133:99:1552,0,2086 9 100995758 100995758 G T exonic TBC1D2 nonsynonymous SNV TBC1D2:NM_001267571:exon4:c.C721A:p.P241T,TBC1D2:NM_018421:exon4:c.C721A:p.P241T 0.21 0.17 0.25 0.16 0.27 0.22 0.2463 0.1774 0.2248 0.1511 0.2762 0.2738 0.2456 0.2319 0.23 0.18 0.26 0.25 0.25 rs879368 COSM3982631 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.365 0.180 T 0.335 0.346 B 0.058 0.310 B 0.101 0.199 N 1 0.090 P 2.3 0.659 M 2.41 0.155 T -1.4 0.346 N 0.058 0.041 -0.926 0.447 T 0.000 0.000 T . . . 0.743 0.165 9.108 0.836 0.143 0.092 0.148 N c -0.667 -0.716 1.000 0.409 0.707 0.730 0 0.842 0.180 -0.938 0.040 0.075 0.182 0.000 0.063 0.042 0.158 4.903 0.130 . ENSG00000095383.15|ENSG00000095383.15|ENSG00000106789.8|ENSG00000095383.15|ENSG00000095383.15 Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Ovary|Thyroid 0.2473 0.1798 0.2302 0.2803 0.1517 0.2711 0.2711 0.2739 0.2343 0.2508 0.1819 0.2530 0.2781 0.1403 0.2872 0.2930 0.2622 het 2541.65 214 9 100995758 . G T 2541.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.035;DP=214;Dels=0.00;FS=1.250;HRun=0;HaplotypeScore=8.1868;MQ=59.70;MQ0=0;MQRankSum=1.039;QD=11.88;ReadPosRankSum=-2.111;VQSLOD=3.8164;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,104:214:99:2572,0,3055 9 101056122 101056122 T C exonic GABBR2 nonsynonymous SNV GABBR2:NM_005458:exon18:c.A2605G:p.T869A 0.23 0.38 0.22 0.16 0.19 0.17 0.1938 0.3843 0.1943 0.1520 0.1967 0.1732 0.1751 0.1789 0.24 0.38 0.17 0.34 0.19 rs10985765 COSM3982633 2(haematopoietic_and_lymphoid_tissue);10(soft_tissue);1(thyroid) . . . . . . . . . . . 0.255 0.168 T 0.0 0.026 B 0.0 0.013 B 0.001 0.403 N 0.997 0.228 P 0.55 0.145 N -1.11 0.775 T -0.52 0.162 N 0.02 0.004 -1.032 0.199 T 0.000 0.000 T . . . 0.714 0.162 8.922 0.956 0.267 0.802 0.396 D c -0.604 -0.429 0.993 0.330 0.706 0.609 0 1.54 0.222 1.150 0.310 1.061 0.807 1.000 0.715 0.999 0.750 7.627 0.272 . ENSG00000095383.15|ENSG00000095383.15|ENSG00000095383.15|ENSG00000095383.15 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Thyroid 0.1905 0.3846 0.1969 0.1127 0.1523 0.1928 0.1763 0.1909 0.1836 0.2425 0.3917 0.2249 0.1457 0.1400 0.1952 0.1851 0.1765 het 2158.90 165 9 101056122 . T C 2158.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.837;DP=165;Dels=0.00;FS=13.685;HRun=0;HaplotypeScore=1.9950;MQ=59.35;MQ0=0;MQRankSum=2.159;QD=13.08;ReadPosRankSum=0.566;VQSLOD=3.5099;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,78:165:99:2189,0,2397 9 101533220 101533220 C T exonic ANKS6 nonsynonymous SNV ANKS6:NM_173551:exon10:c.G1930A:p.V644I 0.88 0.94 0.83 0.74 0.97 0.85 0.9230 0.9531 0.7900 0.7081 0.9919 0.9693 0.9434 0.8923 0.96 0.96 0.97 0.9 0.85 rs6415847 COSM4163154 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) Benign not_specified RCV000254393.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.205 0.165 N 1 0.090 P 0.035 0.081 N 1.6 0.714 T -0.02 0.078 N 0.152 0.181 -0.951 0.408 T 0.000 0.000 T . . . 0.283 0.121 5.523 0.817 0.134 0.053 0.110 N c -1.007 -0.893 0.255 0.187 0.745 0.986 0 2.51 0.293 1.314 0.330 0.077 0.185 0.246 0.246 0.004 0.083 8.107 0.299 . . . 0.9201 0.9526 0.7990 0.9494 0.7183 0.9917 0.9683 0.9400 0.8888 0.9482 0.9521 0.8246 0.9470 0.6916 0.9900 0.9703 0.9552 hom 1360.36 47 9 101533220 . C T 1360.36 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=28.94;VQSLOD=8.3799;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1393,111,0 9 101748234 101748234 G A exonic COL15A1 nonsynonymous SNV COL15A1:NM_001855:exon3:c.G488A:p.R163H 0.24 0.34 0.26 0.2 0.16 0.25 0.1932 0.3176 0.3127 0.2090 0.1250 0.1491 0.2141 0.2275 0.21 0.32 0.16 0.22 0.09 rs2075662 COSM3763483 1(breast);1(liver);1(large_intestine) . . . . . . . . . . . 0.272 0.159 T 0.011 0.241 B 0.016 0.252 B 0.002 0.370 N 0.089 0.364 P 1.365 0.343 L 0.08 0.616 T -2.66 0.569 D 0.062 0.067 -1.005 0.284 T 0.000 0.000 T . . . 1.954 0.296 15.92 0.967 0.302 0.734 0.356 D c -0.508 -0.465 0.998 0.365 0.487 0.133 0 1.22 0.202 2.497 0.448 0.126 0.213 0.714 0.285 0.749 0.321 8.038 0.295 Concanavalin A-like lectin/glucanase domain|Laminin G domain . . 0.1942 0.3227 0.2974 0.1600 0.2085 0.1308 0.1501 0.1775 0.2295 0.1936 0.3044 0.2596 0.1755 0.1942 0.1239 0.1437 0.1690 het 3165.75 220 9 101748234 . G A 3165.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.867;DP=220;DS;Dels=0.00;FS=2.339;HRun=0;HaplotypeScore=5.7830;MQ=60.00;MQ0=0;MQRankSum=0.793;QD=14.39;ReadPosRankSum=1.156;VQSLOD=4.5418;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,118:220:99:3196,0,2496 9 101748356 101748356 A G exonic COL15A1 nonsynonymous SNV COL15A1:NM_001855:exon3:c.A610G:p.M204V 0.6 0.81 0.54 0.59 0.42 0.58 0.4704 0.7589 0.6112 0.5644 0.4381 0.3808 0.4808 0.5189 0.5 0.75 0.38 0.65 0.34 rs2075663 COSM5904902 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -3.335 0.000 N -0.55 0.711 T 2.0 0.004 N 0.041 0.021 -0.930 0.441 T 0.000 0.000 T . . . 0.901 0.180 10.08 0.949 0.252 0.122 0.170 N c -0.926 -0.591 1.000 0.473 0.487 0.133 0 4.34 0.511 5.010 0.635 0.138 0.222 1.000 0.715 0.996 0.625 8.838 0.341 Concanavalin A-like lectin/glucanase domain|Laminin G domain . . 0.4702 0.7649 0.5956 0.4226 0.5619 0.4416 0.3752 0.4464 0.5177 0.5055 0.7448 0.5564 0.4133 0.5353 0.4401 0.3802 0.4592 hom 3414.24 111 9 101748356 . A G 3414.24 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=58.95;MQ0=0;QD=30.76;VQSLOD=9.3972;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3414,274,0 9 101797330 101797330 C T exonic COL15A1 nonsynonymous SNV COL15A1:NM_001855:exon18:c.C2114T:p.P705L 0.0068 . 0.017 . 0.017 0.0051 0.0159 0.0036 0.0070 0.0002 0.0155 0.0240 0.0146 0.0055 0.015 0.0034 0.021 . 0.016 rs41308900 . . . . . . . . . . . . . 0.027 0.465 D 0.999 0.764 D 0.929 0.646 D 0.005 0.330 N 0.999 0.462 D 2.655 0.780 M -4.51 0.977 D -5.32 0.845 D 0.164 0.282 0.709 0.933 D 0.905 0.968 D . . . 4.674 0.626 24.5 0.996 0.756 0.799 0.394 D c 0.497 0.397 1.000 0.747 0.487 0.133 0 4.78 0.605 0.832 0.270 0.935 0.490 0.005 0.169 0.979 0.486 12.010 0.524 . . . 0.0158 0.0033 0.0076 0.0514 0.0003 0.0153 0.0225 0.0151 0.0054 0.0133 0.0045 0.0119 0.0298 0.0006 0.0117 0.0203 0.0082 het 1399.13 107 9 101797330 . C T 1399.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.631;DP=107;Dels=0.00;FS=6.308;HRun=0;HaplotypeScore=0.0000;MQ=59.78;MQ0=0;MQRankSum=-0.041;QD=13.08;ReadPosRankSum=-0.540;VQSLOD=4.8602;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,50:107:99:1429,0,1606 9 101804329 101804329 T C exonic COL15A1 synonymous SNV COL15A1:NM_001855:exon24:c.T2514C:p.G838G 0.15 0.082 0.14 0.17 0.15 0.23 0.1381 0.0913 0.1176 0.1539 0.1246 0.1303 0.1509 0.2096 0.12 0.087 0.13 0.11 0.14 rs7854112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1382 0.0902 0.1273 0.1371 0.1482 0.1225 0.1314 0.1360 0.2058 0.1169 0.0929 0.1348 0.1192 0.1516 0.1305 0.1212 0.1426 het 2820.12 213 9 101804329 . T C 2820.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.548;DP=213;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.3204;MQ=59.32;MQ0=0;MQRankSum=1.297;QD=13.24;ReadPosRankSum=-0.455;VQSLOD=6.1961;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,117:213:99:2850,0,2278 9 101822220 101822220 C T exonic COL15A1 synonymous SNV COL15A1:NM_001855:exon36:c.C3387T:p.P1129P 0.39 0.4 0.35 0.53 0.2 0.43 0.2847 0.3928 0.4160 0.4948 0.1459 0.2025 0.2544 0.4040 0.26 0.38 0.2 0.38 0.25 rs4480177 COSM3763486 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2860 0.3911 0.4092 0.2304 0.4924 0.1431 0.2047 0.2597 0.4068 0.2618 0.3821 0.3885 0.1954 0.5006 0.1439 0.1892 0.2418 het 1588.31 137 9 101822220 . C T 1588.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.769;DP=137;Dels=0.00;FS=2.278;HRun=0;HaplotypeScore=2.7145;MQ=59.83;MQ0=0;MQRankSum=-0.610;QD=11.59;ReadPosRankSum=-0.605;VQSLOD=5.9197;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,62:137:99:1618,0,1759 9 102595685 102595685 C T exonic NR4A3 synonymous SNV NR4A3:NM_006981:exon5:c.C1203T:p.A401A,NR4A3:NM_173199:exon5:c.C1203T:p.A401A,NR4A3:NM_173200:exon6:c.C1236T:p.A412A 0.29 0.42 0.27 0.17 0.39 0.16 0.3235 0.3777 0.2460 0.1706 0.3284 0.3765 0.3414 0.2063 0.37 0.38 0.36 0.33 0.35 rs10988904 COSM3982638;COSM3982637 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3187 0.3784 0.2498 0.4368 0.1665 0.3263 0.3728 0.3372 0.2065 0.3520 0.3707 0.2356 0.44 0.1551 0.3307 0.3733 0.3354 het 1328.76 115 9 102595685 . C T 1328.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.224;DP=115;Dels=0.00;FS=4.663;HRun=0;HaplotypeScore=1.9970;MQ=58.75;MQ0=1;MQRankSum=0.887;QD=11.55;ReadPosRankSum=-0.658;VQSLOD=5.7841;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,50:115:99:1359,0,1762 9 103054951 103054951 T C exonic INVS synonymous SNV INVS:NM_001318382:exon14:c.T1434C:p.S478S,INVS:NM_014425:exon14:c.T2412C:p.S804S,INVS:NM_001318381:exon15:c.T2124C:p.S708S 0.41 0.61 0.35 0.16 0.57 0.25 0.4676 0.5897 0.2368 0.1081 0.5297 0.5716 0.4589 0.2957 0.57 0.59 0.57 0.48 0.5 rs2787374 COSM3763489;COSM3763490 1(large_intestine) Benign|Benign not_specified|Nephronophthisis RCV000081629.5|RCV000399311.1 MedGen|MedGen:SNOMED_CT CN169374|C0687120:204958008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4547 0.5878 0.2605 0.4189 0.1093 0.5345 0.5790 0.4958 0.2987 0.5305 0.5908 0.3373 0.4371 0.1089 0.5290 0.5571 0.4857 het 1152.13 101 9 103054951 . T C 1152.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DP=101;Dels=0.00;FS=0.761;HRun=2;HaplotypeScore=4.5370;MQ=59.54;MQ0=0;MQRankSum=0.244;QD=11.41;ReadPosRankSum=-0.587;VQSLOD=5.8633;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,43:101:99:1182,0,1643 9 103348634 103348634 G A exonic CAVIN4 synonymous SNV CAVIN4:NM_001018116:exon2:c.G996A:p.R332R 0.29 0.24 0.48 0.08 0.43 0.32 0.3712 0.2874 0.5198 0.0835 0.4171 0.4040 0.3576 0.3193 0.38 0.31 0.42 0.24 0.32 rs2780956 COSM3763491 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000213106.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3799 0.2784 0.5175 0.4230 0.0863 0.4037 0.4052 0.3800 0.3218 0.3665 0.2808 0.4892 0.4167 0.1045 0.3941 0.4264 0.4258 het 685.29 62 9 103348634 . G A 685.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.418;DP=62;Dels=0.00;FS=5.410;HRun=0;HaplotypeScore=1.9363;MQ=58.61;MQ0=0;MQRankSum=-0.720;QD=11.05;ReadPosRankSum=-1.419;VQSLOD=4.0773;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,26:62:99:715,0,1116 9 104032338 104032338 C T exonic PLPPR1 synonymous SNV PLPPR1:NM_017753:exon3:c.C240T:p.T80T,PLPPR1:NM_207299:exon3:c.C240T:p.T80T 0.017 0.003 0.019 0.001 0.042 0.027 0.0371 0.0071 0.0121 0 0.0757 0.0461 0.0441 0.0409 0.029 0.0073 0.04 0.011 0.025 rs7847596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0358 0.0064 0.0120 0.0264 0.0002 0.0703 0.0451 0.0367 0.0409 0.0354 0.0058 0.0167 0.0232 0 0.0725 0.0476 0.0582 het 476.10 71 9 104032338 . C T 476.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.778;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5555;MQ=58.73;MQ0=0;MQRankSum=0.504;QD=6.71;ReadPosRankSum=0.128;VQSLOD=5.3079;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,24:71:99:506,0,1374 9 104133628 104133628 C T exonic BAAT nonsynonymous SNV BAAT:NM_001127610:exon2:c.G59A:p.R20Q,BAAT:NM_001701:exon2:c.G59A:p.R20Q 0.56 0.45 0.63 0.63 0.69 0.47 0.6461 0.4897 0.6003 0.6056 0.7579 0.7068 0.6656 0.5067 0.63 0.51 0.7 0.63 0.54 rs1572983 COSM3982639 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Hypercholanemia RCV000246129.1|RCV000379275.1 MedGen|MedGen CN169374|CN239449 . . . . . . 0.435 0.094 T 0.048 0.207 B 0.036 0.216 B 0.188 0.169 N 1 0.090 P 1.24 0.311 L -0.49 0.704 T -0.89 0.240 N 0.074 0.068 -0.976 0.358 T 0.000 0.000 T . . . 0.678 0.159 8.682 0.829 0.140 0.014 0.047 N c -1.362 -1.442 1.000 0.500 0.554 0.246 0 -3.93 0.038 -3.423 0.005 -0.302 0.080 0.000 0.063 0.719 0.314 12.752 0.565 Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase . . 0.6471 0.4853 0.5965 0.7017 0.6116 0.7630 0.6991 0.6810 0.5078 0.6468 0.5041 0.6181 0.7781 0.5949 0.7622 0.7049 0.6848 hom 5258.02 169 9 104133628 . C T 5258.02 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7772;MQ=58.98;MQ0=0;QD=31.11;VQSLOD=9.0391;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5257,403,0 9 104335682 104335682 C T exonic GRIN3A nonsynonymous SNV GRIN3A:NM_133445:exon9:c.G3122A:p.R1041Q 0.19 0.22 0.2 0.26 0.12 0.13 0.1403 0.2138 0.1862 0.2377 0.0875 0.1174 0.1313 0.1253 0.16 0.21 0.13 0.26 0.074 rs3739722 COSM3763494 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.471 0.084 T 0.0 0.026 B 0.001 0.040 B 0.848 0.090 N 1 0.090 P 0.255 0.098 N 2.93 0.098 T -0.21 0.103 N 0.026 0.008 -0.947 0.415 T 0.000 0.000 T . . . 1.273 0.218 12.13 0.921 0.208 0.014 0.047 N c -1.121 -1.178 0.955 0.281 0.554 0.283 0 -3.96 0.038 -1.966 0.016 -1.508 0.010 0.000 0.063 0.059 0.170 13.805 0.626 . . . 0.1392 0.2144 0.1779 0.0756 0.2310 0.0948 0.1234 0.1220 0.1210 0.1469 0.2113 0.1687 0.0728 0.2338 0.0942 0.1145 0.1194 het 2827.65 220 9 104335682 . C T 2827.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.568;DP=220;Dels=0.00;FS=0.498;HRun=0;HaplotypeScore=2.7427;MQ=58.88;MQ0=0;MQRankSum=0.106;QD=12.85;ReadPosRankSum=1.210;VQSLOD=6.3575;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:110,110:220:99:2858,0,2792 9 104449063 104449063 C T exonic GRIN3A synonymous SNV GRIN3A:NM_133445:exon2:c.G1119A:p.G373G 0.72 0.87 0.71 0.43 0.79 0.74 0.7538 0.8440 0.7001 0.4262 0.8039 0.7843 0.7666 0.7610 0.8 0.84 0.78 0.75 0.8 rs2506354 COSM1179841 1(bone);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7488 0.8440 0.7055 0.7929 0.4232 0.8025 0.7806 0.7570 0.7608 0.7888 0.8417 0.7315 0.8146 0.4259 0.7993 0.7971 0.7900 hom 2094.94 66 9 104449063 . C T 2094.94 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=60.00;MQ0=0;QD=31.74;VQSLOD=8.8039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2128,180,0 9 104499575 104499575 T C exonic GRIN3A synonymous SNV GRIN3A:NM_133445:exon1:c.A687G:p.P229P 0.83 0.85 0.9 0.56 0.96 0.89 0.9035 0.8551 0.9207 0.5462 0.9318 0.9536 0.9227 0.8934 0.92 0.86 0.95 0.76 0.96 rs1337677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9042 0.8525 0.9241 0.9687 0.5469 0.9327 0.9510 0.9319 0.8939 0.8988 0.8534 0.9330 0.9735 0.5502 0.9313 0.9494 0.9346 hom 4493.69 139 9 104499575 . T C 4493.69 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7658;MQ=59.28;MQ0=0;QD=32.33;VQSLOD=9.2879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:139:99:4469,349,0 9 107266596 107266596 T C exonic OR13F1 nonsynonymous SNV OR13F1:NM_001004485:exon1:c.T53C:p.F18S 0.78 0.91 0.77 0.78 0.75 0.67 0.7411 0.8678 0.7506 0.7828 0.7375 0.7302 0.7434 0.6782 0.77 0.86 0.72 0.86 0.72 rs7049042 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.313 0.144 N 1.000 0.090 P -2.385 0.001 N 7.46 0.004 T 4.71 0.000 N 0.042 0.022 -1.054 0.133 T 0.000 0.000 T . . . -1.370 0.020 0.004 0.110 0.002 0.001 0.006 N c -1.473 -1.274 0.000 0.038 0.487 0.133 0 3.0 0.336 1.390 0.339 -0.465 0.055 0.001 0.137 0.082 0.182 7.697 0.276 . . . 0.7394 0.8710 0.7587 0.8195 0.7797 0.7367 0.7170 0.7426 0.6866 0.7656 0.8578 0.7566 0.8510 0.7703 0.7420 0.7156 0.7668 hom 3781.99 112 9 107266596 . T C 3781.99 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7136;MQ=59.07;MQ0=0;QD=33.77;VQSLOD=8.0206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3782,298,0 9 107266774 107266774 C G exonic OR13F1 synonymous SNV OR13F1:NM_001004485:exon1:c.C231G:p.A77A 0.78 0.91 0.77 0.78 0.75 0.67 0.7407 0.8675 0.7496 0.7824 0.7371 0.7299 0.7434 0.6773 0.77 0.86 0.72 0.85 0.74 rs1949755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7387 0.8708 0.7578 0.8188 0.7792 0.7365 0.7166 0.7428 0.6852 0.7652 0.8575 0.7578 0.8510 0.7699 0.7418 0.7150 0.7684 hom 7158.51 242 9 107266774 . C G 7158.51 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6766;MQ=59.29;MQ0=0;QD=29.58;VQSLOD=5.3336;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,241:242:99:7119,572,0 9 107266844 107266844 A G exonic OR13F1 nonsynonymous SNV OR13F1:NM_001004485:exon1:c.A301G:p.M101V 0.78 0.91 0.77 0.78 0.75 0.67 0.7407 0.8678 0.7498 0.7827 0.7370 0.7299 0.7434 0.6774 0.77 0.86 0.72 0.86 0.74 rs1403812 . . . . . . . . . . . . . 0.009 0.574 D 0.079 0.230 B 0.034 0.212 B 0.001 0.437 N 0.995 0.234 P 2.135 0.597 M 4.5 0.021 T -3.7 0.705 D 0.14 0.163 -1.052 0.139 T 0.000 0.000 T . . . 1.806 0.278 15.02 0.972 0.324 0.713 0.347 D c -0.159 -0.079 0.000 0.041 0.487 0.133 0 3.1 0.346 0.086 0.147 1.199 0.960 0.000 0.063 0.995 0.604 4.709 0.122 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7389 0.8710 0.7580 0.8189 0.7795 0.7365 0.7167 0.7425 0.6854 0.7657 0.8576 0.7584 0.85 0.7696 0.7418 0.7159 0.7684 hom 5569.17 163 9 107266844 . A G 5569.17 Mask AC=2;AF=1.00;AN=2;DP=163;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1608;MQ=59.13;MQ0=0;QD=34.17;VQSLOD=6.6720;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5569,445,0 9 107266943 107266943 G A exonic OR13F1 nonsynonymous SNV OR13F1:NM_001004485:exon1:c.G400A:p.V134I 0.78 0.91 0.77 0.78 0.75 0.67 0.7404 0.8679 0.7498 0.7823 0.7376 0.7300 0.7434 0.6745 0.77 0.86 0.73 0.86 0.74 rs1403811 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.202 0.166 N 1 0.090 P 0.335 0.104 N 7.59 0.004 T 0.43 0.033 N 0.023 0.006 -0.984 0.340 T 0.000 0.000 T . . . -2.849 0.002 0.001 0.144 0.003 0.017 0.054 N c -2.004 -2.024 0.000 0.065 0.487 0.133 0 -4.38 0.034 -2.319 0.012 -0.117 0.114 0.000 0.063 0.824 0.344 6.969 0.237 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7385 0.8710 0.7577 0.8190 0.7795 0.7366 0.7166 0.7425 0.6827 0.7658 0.8579 0.7578 0.8510 0.7723 0.7418 0.7158 0.7668 hom 3816.89 119 9 107266943 . G A 3816.89 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.45;MQ0=0;QD=32.07;VQSLOD=9.6472;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3816,313,0 9 107267304 107267304 C T exonic OR13F1 nonsynonymous SNV OR13F1:NM_001004485:exon1:c.C761T:p.T254M 0.53 0.54 0.58 0.43 0.62 0.49 0.5771 0.5302 0.5930 0.4457 0.6332 0.6105 0.5574 0.5079 0.58 0.52 0.6 0.56 0.68 rs7030820 COSM4416157 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.005 0.632 D 0.999 0.764 D 0.947 0.667 D 0.003 0.354 N 0.991 0.240 P 3.235 0.898 M 8.27 0.003 T -4.37 0.770 D 0.147 0.174 -1.171 0.005 T 0.000 0.000 T . . . 6.168 0.851 28.5 0.999 0.955 0.375 0.255 N c 0.399 0.244 0.000 0.071 0.487 0.133 0 3.41 0.380 0.991 0.291 0.069 0.176 0.000 0.063 0.973 0.468 10.596 0.443 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5793 0.5291 0.6038 0.6434 0.4413 0.6282 0.6016 0.5795 0.5175 0.5821 0.5232 0.6050 0.6457 0.4596 0.6391 0.6097 0.6411 hom 5695.58 175 9 107267304 . C T 5695.58 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;QD=32.55;VQSLOD=10.0046;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5695,454,0 9 107360769 107360769 T - exonic OR13C5 frameshift deletion OR13C5:NM_001004482:exon1:c.926delA:p.H309Pfs*2 0.44 0.65 0.23 0.58 0.18 0.42 0.2936 0.5932 0.2789 0.5874 0.2439 0.1974 0.2741 0.3811 0.33 0.59 0.19 0.45 0.3 rs869050059 COSM5713174 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2756 0.5965 0.2696 0.1140 0.5703 0.2423 0.1940 0.2313 0.3284 0.3364 0.5913 0.2710 0.1457 0.5682 0.2519 0.1974 0.2403 het 1803.72 125 9 107360768 . GT G 1803.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.078;DP=125;FS=0.673;HRun=1;HaplotypeScore=383.2546;MQ=60.07;MQ0=0;MQRankSum=0.481;QD=14.43;ReadPosRankSum=-1.612;set=variant2 GT:AD:DP:GQ:PL 0/1:72,53:125:99:1843,0,3018 9 107360826 107360826 A G exonic OR13C5 nonsynonymous SNV OR13C5:NM_001004482:exon1:c.T869C:p.M290T 0.44 0.65 0.23 0.58 0.18 0.42 0.2879 0.5914 0.2795 0.5886 0.2447 0.1949 0.2633 0.3391 0.33 0.58 0.19 0.48 0.33 rs1851725 COSM3982652 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.037 0.430 D 0.021 0.172 B 0.03 0.205 B 0.012 0.295 N 1.000 0.202 P 1.985 0.540 M 1.2 0.374 T -5.43 0.853 D 0.076 0.067 -0.982 0.346 T 0.000 0.000 T . . . 0.734 0.164 9.045 0.385 0.026 0.323 0.243 N c -1.319 -1.398 0.000 0.029 0.487 0.133 0 -0.085 0.130 1.540 0.355 -0.177 0.105 0.000 0.063 0.005 0.090 4.767 0.124 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Muscle_Skeletal|Nerve_Tibial 0.2773 0.5977 0.2734 0.1177 0.5745 0.2451 0.1960 0.2294 0.3326 0.3371 0.5911 0.2739 0.1457 0.5730 0.2519 0.1974 0.2408 het 1611.04 154 9 107360826 . A G 1611.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.525;DP=154;Dels=0.00;FS=5.059;HRun=0;HaplotypeScore=1.9992;MQ=59.74;MQ0=0;MQRankSum=0.995;QD=10.46;ReadPosRankSum=-0.642;VQSLOD=5.7044;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,68:154:99:1641,0,2304 9 107360851 107360851 T C exonic OR13C5 nonsynonymous SNV OR13C5:NM_001004482:exon1:c.A844G:p.I282V 0.44 0.65 0.23 0.58 0.18 0.42 0.2879 0.5915 0.2789 0.5901 0.2452 0.1949 0.2633 0.3383 0.33 0.58 0.19 0.48 0.34 rs1523678 COSM3982653 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.136 0.260 T 0.0 0.026 B 0.001 0.040 B 0.843 0.090 N 1 0.090 P -1.09 0.010 N 9.06 0.000 T -0.76 0.212 N 0.055 0.037 -0.956 0.399 T 0.000 0.000 T . . . -1.692 0.013 0.002 0.536 0.049 0.006 0.027 N c -1.836 -1.920 0.804 0.242 0.487 0.133 0 -7.7 0.011 -6.324 0.001 -0.011 0.132 0.000 0.063 0.001 0.043 3.554 0.074 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Muscle_Skeletal|Nerve_Tibial 0.2773 0.5980 0.2734 0.1179 0.5749 0.2451 0.1960 0.2292 0.3325 0.3365 0.5911 0.2722 0.1457 0.5721 0.2511 0.1971 0.2408 het 1897.14 161 9 107360851 . T C 1897.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.496;DP=161;Dels=0.00;FS=3.654;HRun=0;HaplotypeScore=2.5338;MQ=59.38;MQ0=0;MQRankSum=1.476;QD=11.78;ReadPosRankSum=0.480;VQSLOD=6.1731;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,75:161:99:1927,0,2313 9 107360922 107360922 A G exonic OR13C5 nonsynonymous SNV OR13C5:NM_001004482:exon1:c.T773C:p.M258T 0.68 0.75 0.59 0.96 0.42 0.61 0.5362 0.7177 0.6697 0.9660 0.4889 0.4325 0.5132 0.5424 0.52 0.72 0.42 0.62 0.47 rs1851724 COSM4998608 1(pancreas) . . . . . . . . . . . 0.036 0.433 D 0.68 0.395 P 0.479 0.452 P 0.141 0.183 U 0.999 0.220 P 1.33 0.334 L 8.64 0.002 T -5.36 0.848 D 0.12 0.134 -0.903 0.477 T 0.000 0.000 T . . . 3.950 0.532 23.6 0.985 0.419 0.222 0.214 N c -0.187 -0.235 0.000 0.052 0.487 0.133 0 4.03 0.459 0.281 0.184 0.199 0.252 0.000 0.063 0.269 0.231 6.022 0.187 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.5361 0.7238 0.6568 0.3509 0.9631 0.4904 0.4355 0.4760 0.5380 0.5653 0.7193 0.6274 0.3609 0.9584 0.4914 0.4561 0.4908 het 2000.29 166 9 107360922 . A G 2000.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.296;DP=166;Dels=0.00;FS=2.728;HRun=0;HaplotypeScore=8.8098;MQ=58.94;MQ0=0;MQRankSum=1.146;QD=12.05;ReadPosRankSum=0.329;VQSLOD=4.6593;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,76:166:99:2030,0,2508 9 107361129 107361129 C T exonic OR13C5 nonsynonymous SNV OR13C5:NM_001004482:exon1:c.G566A:p.C189Y 0.36 0.4 0.21 0.56 0.18 0.4 0.2652 0.3666 0.2691 0.5836 0.2446 0.1944 0.2434 0.3278 0.25 0.36 0.19 0.39 0.29 rs4117966 COSM3982654 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.007 0.599 D 1.0 0.899 D 1.0 0.971 D 0.001 0.403 U 0.073 0.369 P 3.435 0.922 M 7.26 0.005 T -10.9 0.992 D 0.147 0.174 -1.052 0.138 T 0.000 0.000 T . . . 5.226 0.706 25.6 0.993 0.598 0.949 0.625 D c 0.585 0.384 0.423 0.203 0.487 0.133 0 4.17 0.481 3.817 0.551 0.884 0.388 0.998 0.411 0.020 0.134 14.052 0.641 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Esophagus_Muscularis|Nerve_Tibial 0.2598 0.3738 0.2621 0.1178 0.5696 0.2453 0.1955 0.2167 0.3228 0.2732 0.3691 0.2625 0.1457 0.5713 0.2510 0.1968 0.2291 het 3032.48 237 9 107361129 . C T 3032.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.731;DP=237;DS;Dels=0.00;FS=1.619;HRun=0;HaplotypeScore=2.7802;MQ=56.19;MQ0=1;MQRankSum=1.083;QD=12.80;ReadPosRankSum=-0.488;VQSLOD=2.8049;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:122,115:237:99:3062,0,3194 9 107367393 107367396 GTTA - exonic OR13C2 frameshift deletion OR13C2:NM_001004481:exon1:c.513_516del:p.N171Kfs*13 0.37 0.43 0.22 0.57 0.18 0.41 0.2651 0.3960 0.2652 0.5744 0.2410 0.1922 0.2489 0.3261 0.26 0.38 0.19 0.21 0.27 rs143198170 COSM4998738 1(pancreas);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2574 0.4026 0.2607 0.1096 0.5678 0.2408 0.1904 0.2155 0.3162 0.2775 0.3947 0.2650 0.1409 0.5543 0.2509 0.1953 0.2258 het 2641.62 187 9 107367392 . TGTTA T 2641.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.097;DP=187;DS;FS=12.868;HRun=0;HaplotypeScore=896.8413;MQ=46.59;MQ0=5;MQRankSum=-6.698;QD=12.95;ReadPosRankSum=-0.711;set=variant2 GT:AD:DP:GQ:PL 0/1:135,69:187:99:2681,0,10220 9 107367665 107367666 GC - exonic OR13C2 frameshift deletion OR13C2:NM_001004481:exon1:c.243_244del:p.L82Sfs*38 0.31 0.41 0.2 0.41 0.16 0.32 0.2845 0.5749 0.2745 0.5845 0.2435 0.1953 0.2607 0.3381 0.32 0.56 0.19 0.043 . rs377668801 COSM5713175 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2721 0.5742 0.2683 0.1158 0.5717 0.2432 0.1932 0.2248 0.3287 0.3175 0.5503 0.2591 0.1424 0.5403 0.2494 0.1932 0.2345 het 1630.86 93 9 107367664 . AGC A 1630.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.151;DP=93;FS=1.925;HRun=0;HaplotypeScore=401.1849;MQ=23.74;MQ0=77;MQRankSum=1.713;QD=8.63;ReadPosRankSum=-1.077;set=variant2 GT:AD:DP:GQ:PL 0/1:126,63:93:99:1670,0,2478 9 107456933 107456933 C T exonic OR13D1 synonymous SNV OR13D1:NM_001004484:exon1:c.C231T:p.L77L 0.27 0.17 0.18 0.48 0.19 0.34 0.2378 0.1801 0.2308 0.4713 0.1643 0.2118 0.2302 0.2913 0.2 0.18 0.21 0.24 0.4 rs12347076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2325 0.1789 0.2200 0.1386 0.4662 0.1666 0.2143 0.2176 0.2882 0.2059 0.1742 0.2243 0.1788 0.4371 0.1785 0.2062 0.1925 het 4051.43 250 9 107456933 . C T 4051.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.057;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5944;MQ=58.33;MQ0=0;MQRankSum=-0.312;QD=16.21;ReadPosRankSum=0.402;VQSLOD=4.5115;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3431,0,3375 9 107457532 107457532 C T exonic OR13D1 nonsynonymous SNV OR13D1:NM_001004484:exon1:c.C830T:p.S277L 0.77 0.86 0.66 0.99 0.51 0.75 0.6243 0.8237 0.7140 0.9958 0.5440 0.5190 0.6013 0.7000 0.62 0.82 0.52 0.76 0.58 rs10761073 . . . . . . . . . . . . . 1.0 0.010 T 0.003 0.102 B 0.0 0.013 B 0.003 0.351 N 1 0.090 P -4.25 0.000 N 1.7 0.269 T 5.84 0.000 N 0.057 0.041 -0.920 0.455 T 0.000 0.000 T . . . -1.111 0.028 0.009 0.108 0.001 0.002 0.013 N c -2.187 -1.934 0.000 0.068 0.487 0.133 0 1.4 0.213 4.258 0.584 -0.226 0.095 0.601 0.275 0.006 0.095 5.141 0.142 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9 Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Muscularis|Nerve_Tibial 0.6222 0.8270 0.7043 0.4522 0.9951 0.5496 0.5232 0.5805 0.6949 0.6494 0.8113 0.6766 0.4868 0.9914 0.5533 0.5473 0.5729 het 2180.35 174 9 107457532 . C T 2180.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.649;DP=174;Dels=0.00;FS=1.882;HRun=1;HaplotypeScore=7.8752;MQ=59.13;MQ0=0;MQRankSum=0.154;QD=12.53;ReadPosRankSum=0.550;VQSLOD=4.8645;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,79:174:99:2210,0,2366 9 107457725 107457725 G A exonic OR13D1 synonymous SNV OR13D1:NM_001004484:exon1:c.G1023A:p.L341L 0.27 0.17 0.18 0.48 0.19 0.34 0.2412 0.1811 0.2324 0.4722 0.1645 0.2147 0.2324 0.3203 0.2 0.18 0.21 0.24 0.35 rs12338899 COSM3982667 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2369 0.1789 0.2269 0.1448 0.4633 0.1695 0.2170 0.2266 0.3011 0.2063 0.1745 0.2224 0.1788 0.4396 0.1787 0.2067 0.1926 het 712.62 62 9 107457725 . G A 712.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.603;DP=62;Dels=0.00;FS=9.733;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=-0.605;QD=11.49;ReadPosRankSum=0.479;VQSLOD=4.2422;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,31:62:99:743,0,895 9 107515214 107515214 G A exonic NIPSNAP3A nonsynonymous SNV NIPSNAP3A:NM_001329570:exon3:c.G299A:p.R100Q,NIPSNAP3A:NM_015469:exon3:c.G299A:p.R100Q 0.64 0.76 0.71 0.52 0.62 0.55 0.6180 0.7464 0.6685 0.5539 0.4690 0.6227 0.5980 0.5769 0.68 0.75 0.64 0.67 0.34 rs2274870 COSM3982669 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.039 0.424 D 0.95 0.519 P 0.675 0.514 P 0.000 0.843 N 0.071 0.369 P 2.38 0.688 M -0.28 0.676 T -3.32 0.660 D 0.081 0.074 -0.945 0.418 T 0.000 0.000 T . . . 5.165 0.697 25.5 0.999 0.996 0.877 0.470 D c 0.320 0.231 0.998 0.358 0.745 0.986 0 1.26 0.204 0.952 0.285 0.091 0.195 0.982 0.353 0.927 0.401 6.559 0.215 Dimeric alpha-beta barrel ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9|ENSG00000136783.9 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.6194 0.7425 0.6825 0.7444 0.5468 0.4686 0.6244 0.6387 0.5780 0.6299 0.7445 0.6763 0.6921 0.5546 0.4624 0.6095 0.5827 hom 3803.35 126 9 107515214 . G A 3803.35 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9774;MQ=58.77;MQ0=0;QD=30.19;VQSLOD=8.8680;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3803,289,0 9 107562804 107562804 T C exonic ABCA1 nonsynonymous SNV ABCA1:NM_005502:exon35:c.A4760G:p.K1587R 0.54 0.13 0.75 0.59 0.79 0.63 0.6936 0.2166 0.7942 0.5934 0.8468 0.7612 0.7093 0.6409 0.58 0.24 0.76 0.46 0.72 rs2230808 COSM3763496 1(large_intestine) Benign|Benign Familial_High_Density_Lipoprotein_Deficiency|Tangier_disease RCV000312801.1|RCV000356155.1 MedGen|MedGen:OMIM:Orphanet CN239346|C0039292:205400:ORPHA31150 . . . . . . 1.0 0.010 T 0.018 0.165 B 0.034 0.212 B 0.000 0.843 D 0.000 0.501 P 0.345 0.112 N -2.23 0.871 D -0.22 0.105 N 0.235 0.288 -0.978 0.355 T 0.000 0.000 T . . . 3.046 0.426 22.4 0.895 0.183 0.985 0.835 D c -0.224 0.045 1.000 0.747 0.651 0.465 0 5.93 0.959 5.953 0.698 1.061 0.807 1.000 0.715 1.000 0.888 16.380 0.832 . . . 0.7093 0.2046 0.7916 0.7442 0.5921 0.8430 0.7604 0.7206 0.6409 0.6101 0.2260 0.7924 0.7318 0.5850 0.8489 0.7588 0.7408 hom 5295.78 181 9 107562804 . T C 5295.78 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.228;DP=181;Dels=0.00;FS=2.873;HRun=0;HaplotypeScore=3.8545;MQ=59.21;MQ0=0;MQRankSum=-0.088;QD=29.26;ReadPosRankSum=-1.052;VQSLOD=4.0249;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,179:181:99:5223,331,0 9 107574906 107574906 C T exonic ABCA1 synonymous SNV ABCA1:NM_005502:exon28:c.G3999A:p.L1333L 0.0002 . . . 0.001 . 9.884e-05 0 0 0 0.0011 7.492e-05 0 0 . . . . . rs183043192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0 0 0 0 0.0013 0.0001 0 0 0.0002 0 0 0 0 0.0009 0.0002 0 het 1975.70 142 9 107574906 . C T 1975.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.158;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.41;MQ0=0;MQRankSum=1.454;QD=13.91;ReadPosRankSum=0.369;VQSLOD=4.9888;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,70:142:99:2006,0,1996 9 108363426 108363426 C T exonic FKTN nonsynonymous SNV FKTN:NM_001351498:exon4:c.C166T:p.R56C,FKTN:NM_006731:exon4:c.C166T:p.R56C,FKTN:NM_001079802:exon5:c.C166T:p.R56C,FKTN:NM_001198963:exon5:c.C166T:p.R56C,FKTN:NM_001351496:exon6:c.C166T:p.R56C,FKTN:NM_001351497:exon7:c.C97T:p.R33C 0.01 0.0015 0.025 . 0.032 0.001 0.0235 0.0053 0.0157 0 0.0371 0.0368 0.0229 0.0027 0.021 0.0057 0.028 . 0.016 rs41277797 . . other|Uncertain significance|Uncertain significance|Benign not_specified|Dilated_Cardiomyopathy\x2c_Recessive|Fukuyama_congenital_muscular_dystrophy|Walker-Warburg_congenital_muscular_dystrophy RCV000079431.10|RCV000368379.1|RCV000397538.1|RCV000466034.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|CN239222|C0410174:253800:ORPHA272:111502003|C0265221:ORPHA899:111504002 . . . . . . 0.047 0.440 D 1.0 0.899 D 0.917 0.635 D 0.000 0.473 D 1.000 0.487 D 1.935 0.520 L -2.5 0.913 D -2.03 0.752 N 0.273 0.547 0.176 0.855 D 0.549 0.835 D . . . 5.704 0.778 26.8 0.999 0.997 0.949 0.624 D c 0.533 0.562 0.928 0.269 0.651 0.465 0 5.65 0.868 2.540 0.451 0.892 0.403 1.000 0.715 1.000 0.888 13.651 0.616 . ENSG00000106692.9|ENSG00000106692.9|ENSG00000106692.9 Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0192 0.0044 0.0157 0.0169 0 0.0314 0.0273 0.0233 0.0032 0.0182 0.0050 0.0227 0.0066 0 0.0310 0.0245 0.0245 het 278.20 26 9 108363426 . C T 278.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.466;DP=26;Dels=0.00;FS=4.075;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-0.437;QD=10.70;ReadPosRankSum=0.026;VQSLOD=4.7568;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,12:26:99:308,0,371 9 109687403 109687403 A G exonic ZNF462 nonsynonymous SNV ZNF462:NM_001347997:exon3:c.A1210G:p.M404V,ZNF462:NM_021224:exon3:c.A1210G:p.M404V 0.12 0.073 0.099 0.08 0.17 0.2 0.1386 0.0856 0.0707 0.0955 0.1488 0.1520 0.1267 0.1845 0.12 0.08 0.15 0.076 0.098 rs17723637 COSM4417350;COSM150663 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(oesophagus);2(prostate) . . . . . . . . . . . 0.141 0.255 T 0.002 0.090 B 0.014 0.158 B 0.001 0.407 D 0.787 0.292 P 1.39 0.351 L 3.53 0.049 T -0.8 0.221 N 0.14 0.163 -0.899 0.481 T 0.000 0.000 T . . . -0.302 0.068 0.657 0.930 0.219 0.701 0.342 D c -0.720 -0.656 0.998 0.369 0.672 0.522 0 0.684 0.171 1.413 0.341 0.157 0.243 0.580 0.274 0.954 0.431 9.001 0.351 . . . 0.1364 0.0836 0.0783 0.1126 0.0972 0.1514 0.1527 0.1391 0.1849 0.1327 0.0922 0.1089 0.07 0.1123 0.1584 0.1545 0.1421 het 1190.26 112 9 109687403 . A G 1190.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.258;DP=112;Dels=0.00;FS=1.571;HRun=0;HaplotypeScore=0.9867;MQ=59.33;MQ0=0;MQRankSum=0.125;QD=10.63;ReadPosRankSum=-2.267;VQSLOD=5.9414;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,45:112:99:1220,0,1751 9 109689752 109689752 C T exonic ZNF462 nonsynonymous SNV ZNF462:NM_021224:exon3:c.C3559T:p.P1187S 0.1 0.015 0.091 0.079 0.16 0.2 0.1331 0.0307 0.0688 0.0930 0.1477 0.1516 0.1220 0.1841 0.11 0.03 0.15 0.065 0.09 rs3814541 COSM4163188;COSM4163189 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.092 0.363 T 0.062 0.218 B 0.046 0.233 B 0.000 0.477 D 0.001 0.452 P 1.1 0.281 L 3.41 0.056 T -1.68 0.441 N 0.078 0.069 -1.000 0.298 T 0.000 0.000 T . . . 1.849 0.283 15.28 0.989 0.476 0.964 0.689 D c 0.040 0.192 1.000 0.500 0.672 0.522 0 5.37 0.769 3.562 0.533 0.935 0.490 1.000 0.715 0.995 0.604 13.411 0.602 . . . 0.1319 0.0288 0.0758 0.1123 0.0946 0.1505 0.1521 0.1360 0.1843 0.1163 0.0363 0.1050 0.0733 0.1090 0.1578 0.1537 0.1411 het 3185.78 250 9 109689752 . C T 3185.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.099;DP=250;DS;Dels=0.00;FS=0.566;HRun=1;HaplotypeScore=8.9727;MQ=59.14;MQ0=0;MQRankSum=0.512;QD=12.74;ReadPosRankSum=1.203;VQSLOD=4.5568;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:3216,0,3761 9 109689859 109689859 T C exonic ZNF462 synonymous SNV ZNF462:NM_021224:exon3:c.T3666C:p.N1222N 0.52 0.71 0.45 0.48 0.39 0.48 0.4116 0.6610 0.4137 0.4667 0.3257 0.3653 0.3896 0.4465 0.45 0.64 0.36 0.64 0.29 rs3814540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4070 0.6624 0.4223 0.4152 0.4747 0.3265 0.3630 0.3922 0.4432 0.4485 0.6628 0.4354 0.3367 0.4638 0.3308 0.3577 0.3834 het 2953.68 249 9 109689859 . T C 2953.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.643;DP=249;DS;Dels=0.00;FS=1.607;HRun=0;HaplotypeScore=6.5057;MQ=59.18;MQ0=0;MQRankSum=-1.149;QD=11.86;ReadPosRankSum=-0.116;VQSLOD=4.5665;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:2984,0,3933 9 109691676 109691676 A G exonic ZNF462 nonsynonymous SNV ZNF462:NM_021224:exon3:c.A5483G:p.N1828S 0.56 0.86 0.46 0.48 0.39 0.48 0.4256 0.8016 0.4214 0.4699 0.3228 0.3687 0.3993 0.4420 0.5 0.77 0.36 0.69 0.27 rs3814538 COSM3982674;COSM3982673 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.181 0.171 N 1 0.090 P 0.205 0.094 N 3.58 0.046 T 0.54 0.029 N 0.001 0.001 -1.031 0.202 T 0.000 0.000 T . . . -0.444 0.059 0.303 0.183 0.006 0.072 0.131 N c -0.869 -0.677 1.000 0.467 0.672 0.522 0 3.86 0.435 1.326 0.331 0.138 0.222 0.017 0.192 0.997 0.653 5.099 0.140 . ENSG00000148143.8 Thyroid 0.4179 0.8021 0.4301 0.4221 0.4777 0.3239 0.3658 0.4024 0.4385 0.4877 0.7953 0.4474 0.3444 0.4683 0.3265 0.3593 0.3953 het 2010.42 173 9 109691676 . A G 2010.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.368;DP=173;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4856;MQ=59.25;MQ0=0;MQRankSum=0.035;QD=11.62;ReadPosRankSum=0.190;VQSLOD=6.4571;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,71:173:99:2040,0,2720 9 110249505 110249505 C T exonic KLF4 synonymous SNV KLF4:NM_001314052:exon3:c.G1170A:p.G390G 0.14 0.0091 0.18 0.29 0.19 0.079 0.1825 0.0354 0.1999 0.2922 0.2717 0.1966 0.1921 0.0991 0.14 0.036 0.19 0.11 0.23 rs2236599 COSN8810913 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1835 0.0320 0.1882 0.2415 0.2889 0.2720 0.1898 0.2001 0.0858 0.1601 0.0401 0.1885 0.2533 0.2809 0.2725 0.1852 0.1912 het 1064.52 85 9 110249505 . C T 1064.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.564;DP=85;Dels=0.00;FS=0.987;HRun=1;HaplotypeScore=1.8490;MQ=59.46;MQ0=0;MQRankSum=-0.555;QD=12.52;ReadPosRankSum=0.787;VQSLOD=6.6650;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,43:85:99:1095,0,1180 9 111653574 111653574 C G exonic ELP1 synonymous SNV ELP1:NM_001330749:exon26:c.G2022C:p.L674L,ELP1:NM_001318360:exon28:c.G2727C:p.L909L,ELP1:NM_003640:exon28:c.G3069C:p.L1023L 0.32 0.048 0.46 0.48 0.45 0.27 0.3913 0.0998 0.4131 0.4483 0.3969 0.4452 0.3982 0.3087 0.34 0.11 0.46 0.28 0.39 rs1063110 COSM3763506 1(haematopoietic_and_lymphoid_tissue);1(liver);2(thyroid);1(large_intestine) Benign|Likely benign not_specified|Familial_dysautonomia RCV000245896.1|RCV000338102.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0013364:223900:ORPHA1764:29159009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4009 0.0914 0.4174 0.4899 0.4491 0.4020 0.4461 0.4134 0.3146 0.3421 0.1048 0.4209 0.5397 0.4556 0.4089 0.4404 0.4 hom 4378.81 133 9 111653574 . C G 4378.81 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=32.92;VQSLOD=8.6787;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4378,346,0 9 111945049 111945049 T G exonic EPB41L4B nonsynonymous SNV EPB41L4B:NM_019114:exon24:c.A2447C:p.N816T 0.72 0.74 0.83 0.75 0.77 0.56 0.7260 0.7509 0.8295 0.7550 0.7370 0.7360 0.7789 0.5756 0.75 0.77 0.74 0.74 0.68 rs3750450 . . . . . . . . . . . . . 0.305 0.142 T 0.0 0.026 B 0.001 0.040 B 0.034 0.248 N 0.866 0.283 P 0.55 0.145 N -1.75 0.835 D -1.17 0.299 N 0.016 0.003 -0.951 0.408 T 0.000 0.000 T . . . 3.120 0.435 22.6 0.973 0.328 0.466 0.276 N c -0.582 -0.442 1.000 0.747 0.554 0.283 0 1.11 0.195 0.966 0.287 0.046 0.159 1.000 0.715 0.987 0.523 5.614 0.166 . . . 0.7339 0.7498 0.8210 0.8449 0.7463 0.7364 0.7321 0.7628 0.5884 0.7332 0.7440 0.8098 0.8609 0.7522 0.7282 0.7207 0.7108 hom 5941.29 189 9 111945049 . T G 5941.29 Mask AC=2;AF=1.00;AN=2;DP=189;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6515;MQ=58.70;MQ0=1;QD=31.44;VQSLOD=9.3392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:5941,463,0 9 111956599 111956599 G A exonic EPB41L4B synonymous SNV EPB41L4B:NM_019114:exon21:c.C2124T:p.A708A 0.38 0.59 0.27 0.28 0.43 0.22 0.3760 0.5580 0.2352 0.2646 0.3774 0.4220 0.3931 0.2376 0.46 0.53 0.43 0.4 0.52 rs3750447 COSM3982677 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3728 0.5579 0.2551 0.4678 0.2579 0.3877 0.4233 0.3875 0.2466 0.4311 0.5542 0.2967 0.4603 0.2506 0.3746 0.4023 0.3830 hom 5721.76 175 9 111956599 . G A 5721.76 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4649;MQ=59.28;MQ0=0;QD=32.70;VQSLOD=9.5628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5721,454,0 9 112687354 112687354 C T exonic PALM2;PALM2-AKAP2 nonsynonymous SNV PALM2-AKAP2:NM_007203:exon5:c.C386T:p.T129M,PALM2:NM_053016:exon5:c.C386T:p.T129M,PALM2-AKAP2:NM_147150:exon5:c.C386T:p.T129M,PALM2:NM_001037293:exon6:c.C392T:p.T131M 0.0006 . . . . 0.0031 0.0003 0 8.639e-05 0.0001 0 0.0004 0 0.0002 0.0003 . 0.0005 0.011 . rs150674445 COSM283685;COSM283686 1(stomach);1(large_intestine) . . . . . . . . . . . 0.581 0.421 T 0.979 0.571 D 0.437 0.458 B 0.580 0.111 N 0.995 0.233 N 0.385 0.122 N 2.26 0.325 T 0.4 0.281 N 0.164 0.433 -1.071 0.091 T 0.060 0.251 T 0.004 0.106 T 5.393 0.731 26.0 0.998 0.854 0.626 0.316 D c 0.179 0.252 1.000 0.451 0.554 0.283 0 4.46 0.534 1.247 0.322 0.935 0.490 0.757 0.290 0.923 0.397 11.200 0.478 . . . 0.0003 0 0.0001 0 0.0001 4.484e-05 0.0005 0 9.747e-05 0.0002 0 0 0 0 0.0003 0.0003 0.0010 het 1371.83 117 9 112687354 . C T 1371.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.240;DP=117;Dels=0.00;FS=4.487;HRun=0;HaplotypeScore=0.8321;MQ=58.95;MQ0=0;MQRankSum=0.874;QD=11.73;ReadPosRankSum=2.278;VQSLOD=3.6009;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,55:117:99:1402,0,1493 9 112900199 112900199 T C exonic AKAP2;PALM2-AKAP2 nonsynonymous SNV AKAP2:NM_001004065:exon2:c.T1949C:p.L650S,AKAP2:NM_001136562:exon2:c.T1682C:p.L561S,AKAP2:NM_001198656:exon2:c.T1949C:p.L650S,PALM2-AKAP2:NM_007203:exon8:c.T2375C:p.L792S,PALM2-AKAP2:NM_147150:exon8:c.T2375C:p.L792S 0.46 0.59 0.36 0.31 0.45 0.5 0.4674 0.5707 0.4084 0.3251 0.4657 0.4682 0.4681 0.5155 0.5 0.57 0.46 0.55 0.39 rs914358 COSM3763514;COSM3763515 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.314 0.138 T 0.0 0.191 B 0.001 0.181 B 0.117 0.192 N 1 0.090 P 0.06 0.082 N 2.26 0.441 T -0.58 0.174 N 0.038 0.256 -0.936 0.433 T 0.000 0.000 T . . . -0.994 0.032 0.016 0.771 0.113 0.049 0.105 N c -0.951 -0.858 1.000 0.517 0.732 0.924 0 4.96 0.650 0.715 0.253 0.069 0.176 0.000 0.063 0.037 0.154 5.127 0.141 . . . 0.4609 0.5728 0.4075 0.5114 0.3257 0.4615 0.4633 0.4443 0.5174 0.4826 0.5689 0.4200 0.5629 0.3236 0.4676 0.4586 0.4265 het 771.92 90 9 112900199 . T C 771.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.455;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7351;MQ=59.54;MQ0=0;MQRankSum=0.481;QD=8.58;ReadPosRankSum=0.071;VQSLOD=6.3158;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,37:90:99:802,0,1536 9 112900785 112900785 A G exonic AKAP2;PALM2-AKAP2 synonymous SNV AKAP2:NM_001004065:exon2:c.A2535G:p.S845S,AKAP2:NM_001136562:exon2:c.A2268G:p.S756S,AKAP2:NM_001198656:exon2:c.A2535G:p.S845S,PALM2-AKAP2:NM_007203:exon8:c.A2961G:p.S987S,PALM2-AKAP2:NM_147150:exon8:c.A2961G:p.S987S 0.33 0.15 0.41 0.66 0.26 0.23 0.2960 0.1721 0.4241 0.6488 0.3121 0.2576 0.3011 0.2396 0.22 0.17 0.25 0.27 0.16 rs3739456 COSM1162332;COSM1162331 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2987 0.1673 0.4057 0.2098 0.6489 0.3164 0.2560 0.2885 0.2177 0.2724 0.1721 0.3744 0.1788 0.6477 0.3176 0.2739 0.3033 het 941.80 75 9 112900785 . A G 941.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.113;DP=75;Dels=0.00;FS=8.048;HRun=0;HaplotypeScore=8.5775;MQ=58.60;MQ0=0;MQRankSum=0.734;QD=12.56;ReadPosRankSum=-0.623;VQSLOD=4.0531;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:36,37:75:99:972,0,975 9 112963504 112963504 A G exonic C9orf152 synonymous SNV C9orf152:NM_001012993:exon2:c.T444C:p.D148D 0.97 1. 0.93 1. 0.91 0.98 0.9307 0.9833 0.9583 0.9999 0.8593 0.9041 0.9185 0.9784 0.92 0.98 0.9 0.97 0.91 rs10120707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9281 0.9848 0.9539 0.9347 1 0.8555 0.9026 0.9130 0.9775 0.9225 0.9837 0.9451 0.9371 1 0.8474 0.8955 0.9071 hom 8252.81 249 9 112963504 . A G 8252.81 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8316;MQ=59.14;MQ0=0;QD=33.14;VQSLOD=9.7094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,248:249:99:8252,656,0 9 112963702 112963702 G A exonic C9orf152 synonymous SNV C9orf152:NM_001012993:exon2:c.C246T:p.N82N 0.22 0.35 0.17 0.13 0.17 0.22 0.1829 0.3228 0.2233 0.1401 0.1486 0.1575 0.1878 0.2160 0.2 0.31 0.15 0.22 0.13 rs4978888 COSM5619152;COSM5619151 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1815 0.3220 0.2221 0.1414 0.1338 0.1490 0.1584 0.1673 0.2138 0.1970 0.3083 0.2148 0.1325 0.1316 0.1539 0.1516 0.1711 het 1236.20 123 9 112963702 . G A 1236.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.558;DP=123;Dels=0.00;FS=0.673;HRun=0;HaplotypeScore=1.7883;MQ=59.85;MQ0=0;MQRankSum=0.171;QD=10.05;ReadPosRankSum=1.292;VQSLOD=6.3009;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,54:123:99:1266,0,1867 9 112969745 112969745 T - exonic C9orf152 frameshift deletion C9orf152:NM_001012993:exon1:c.115delA:p.I39Sfs*9 0.0096 . 0.0086 . 0.015 0.028 0.0174 0.0023 0.0076 0.0002 0.0124 0.0216 0.0110 0.0279 0.014 0.0028 0.019 0.011 . rs201081105 COSM4168200;COSM1192750 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0159 0.0026 0.0079 0.0193 0.0002 0.0102 0.0206 0.0141 0.0264 0.0133 0.0036 0.0084 0.0265 0 0.0155 0.0199 0.0122 het 1899 107 9 112969744 . AT A 1899 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.954;DP=107;DS;FS=0.928;HRun=1;HaplotypeScore=280.6207;MQ=59.71;MQ0=0;MQRankSum=-0.758;QD=17.75;ReadPosRankSum=0.120;set=variant2 GT:AD:DP:GQ:PL 0/1:53,54:107:99:1938,0,2081 9 113091523 113091523 T G exonic TXNDC8 nonsynonymous SNV TXNDC8:NM_001003936:exon3:c.A178C:p.N60H 0.098 0.045 0.16 0.077 0.12 0.12 0.1283 0.0605 0.2139 0.0819 0.1158 0.1267 0.1416 0.1462 0.1 0.065 0.12 0.12 0.041 rs7041938 . . . . . . . . . . . . . 0.001 0.784 D 0.988 0.604 D 0.689 0.519 P 0.142 0.183 N 1 0.196 P 0.585 0.154 N 1.95 0.225 T -1.93 0.448 N 0.058 0.041 -1.049 0.147 T 0.001 0.002 T . . . 2.943 0.414 22.0 0.992 0.541 0.261 0.227 N c -0.422 -0.527 0.732 0.230 0.554 0.246 0 0.139 0.140 0.465 0.216 -0.334 0.073 0.982 0.353 0.386 0.252 6.233 0.198 Thioredoxin domain|Thioredoxin-like fold . . 0.1287 0.0561 0.2023 0.0997 0.0804 0.1087 0.1266 0.1255 0.1436 0.1061 0.0631 0.1945 0.1093 0.0910 0.1065 0.1264 0.1255 het 427.26 64 9 113091523 . T G 427.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.585;DP=64;Dels=0.00;FS=1.047;HRun=0;HaplotypeScore=1.8300;MQ=58.98;MQ0=0;MQRankSum=-0.688;QD=6.68;ReadPosRankSum=-1.282;VQSLOD=5.0905;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,20:64:99:457,0,1013 9 113163239 113163239 A C exonic SVEP1 synonymous SNV SVEP1:NM_153366:exon40:c.T9717G:p.V3239V 0.086 0.0061 0.15 0.09 0.11 0.13 0.1220 0.0206 0.2001 0.1041 0.1154 0.1217 0.1247 0.1405 0.09 0.026 0.12 0.087 . rs1410048 COSM3763516 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1248 0.0188 0.1939 0.1101 0.1020 0.1112 0.1222 0.1180 0.1400 0.0944 0.0236 0.1945 0.1126 0.1099 0.1034 0.1244 0.1181 het 1676.86 111 9 113163239 . A C 1676.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.164;DP=111;Dels=0.00;FS=2.492;HRun=0;HaplotypeScore=5.5279;MQ=59.00;MQ0=0;MQRankSum=0.141;QD=15.11;ReadPosRankSum=-1.595;VQSLOD=4.7663;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:46,65:111:99:1707,0,1077 9 113166697 113166697 T A exonic SVEP1 synonymous SNV SVEP1:NM_153366:exon39:c.A9576T:p.V3192V 0.63 0.84 0.48 0.52 0.54 0.67 0.5613 0.7889 0.4215 0.4848 0.4708 0.5502 0.5445 0.6461 0.62 0.78 0.55 0.59 . rs1410049 COSM4163204 1(bone);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5502 0.7886 0.4322 0.6204 0.4867 0.4789 0.5444 0.5546 0.6453 0.5961 0.7713 0.4329 0.6457 0.4765 0.4820 0.5453 0.5412 het 3939.51 250 9 113166697 . T A 3939.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.101;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=58.92;MQ0=0;MQRankSum=-1.559;QD=15.76;ReadPosRankSum=-0.872;VQSLOD=5.4453;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3276,0,3460 9 113166792 113166792 A T exonic SVEP1 nonsynonymous SNV SVEP1:NM_153366:exon39:c.T9481A:p.F3161I 0.11 0.0091 0.19 0.071 0.18 0.15 0.1671 0.0308 0.2318 0.0822 0.2021 0.1837 0.1715 0.1658 0.14 0.037 0.19 0.087 . rs3739451 COSM3763517 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . 0.006 0.126 B 0.014 0.158 B 0.110 0.194 N 0.958 0.262 P -0.7 0.018 N . . . . . . 0.072 0.083 -1.055 0.130 T 0.000 0.000 T . . . 1.955 0.296 15.93 0.906 0.192 0.743 0.360 D c -0.829 -0.607 0.000 0.054 0.554 0.246 0 1.62 0.227 1.668 0.369 1.138 0.885 0.993 0.376 1.000 0.888 3.801 0.082 Sushi/SCR/CCP domain . . 0.1725 0.0285 0.2257 0.1677 0.0800 0.1956 0.1887 0.1684 0.1650 0.1421 0.0348 0.2303 0.1457 0.0802 0.1799 0.1949 0.1800 het 4053.51 250 9 113166792 . A T 4053.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DP=250;DS;Dels=0.00;FS=3.599;HRun=1;HaplotypeScore=0.6651;MQ=58.93;MQ0=0;MQRankSum=0.548;QD=16.21;ReadPosRankSum=0.617;VQSLOD=6.0267;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3406,0,3447 9 113169126 113169126 G A exonic SVEP1 synonymous SNV SVEP1:NM_153366:exon38:c.C8754T:p.H2918H 0.26 0.21 0.34 0.091 0.43 0.28 0.3751 0.2472 0.3512 0.1005 0.4366 0.4332 0.4065 0.3500 0.37 0.24 0.43 0.22 . rs2281937 COSM3763519 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3780 0.2490 0.3497 0.4429 0.0989 0.4283 0.4378 0.3991 0.3521 0.3689 0.2552 0.3592 0.4636 0.0942 0.4181 0.4481 0.4232 het 4016.83 232 9 113169126 . G A 4016.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.617;DP=232;DS;Dels=0.00;FS=3.115;HRun=0;HaplotypeScore=6.0920;MQ=59.04;MQ0=0;MQRankSum=-0.433;QD=17.31;ReadPosRankSum=0.038;VQSLOD=4.4312;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,120:232:99:3405,0,2922 9 113169630 113169630 T C exonic SVEP1 synonymous SNV SVEP1:NM_153366:exon38:c.A8250G:p.A2750A 0.66 0.93 0.48 0.52 0.54 0.67 0.5695 0.8797 0.4247 0.4846 0.4711 0.5510 0.5457 0.6464 0.65 0.87 0.55 0.24 . rs7046213 COSM4407062 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5570 0.8812 0.4372 0.6203 0.4859 0.4790 0.5451 0.5582 0.6457 0.6223 0.8662 0.4325 0.6457 0.4703 0.4828 0.5442 0.5468 het 1981.36 182 9 113169630 . T C 1981.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.235;DP=182;Dels=0.00;FS=0.568;HRun=2;HaplotypeScore=2.7873;MQ=59.75;MQ0=0;MQRankSum=-1.177;QD=10.89;ReadPosRankSum=0.198;VQSLOD=5.7135;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,78:182:99:2011,0,3247 9 113192279 113192279 A T exonic SVEP1 nonsynonymous SNV SVEP1:NM_153366:exon34:c.T5536A:p.S1846T 0.0092 0.0015 0.0014 0.001 0.031 0.011 0.0278 0.0070 0.0054 0.0006 0.0344 0.0410 0.0091 0.0144 0.028 0.0068 0.037 0.033 . rs142508835 . . . . . . . . . . . . . . . . 0.709 0.401 P 0.133 0.315 B 0.000 0.843 D 0.772 0.341 D 1.075 0.273 L . . . . . . 0.081 0.074 -1.093 0.051 T 0.013 0.049 T . . . 3.162 0.440 22.6 0.810 0.130 0.941 0.600 D c 0.075 0.135 1.000 0.403 0.487 0.133 0 4.96 0.650 6.961 0.757 1.197 0.919 1.000 0.715 0.867 0.362 13.646 0.616 Sushi/SCR/CCP domain . . 0.0260 0.0060 0.0064 0.0108 0.0002 0.0357 0.0417 0.0221 0.0141 0.0241 0.0067 0.0072 0.0166 0 0.0268 0.0372 0.0257 het 999.31 66 9 113192279 . A T 999.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.159;DP=66;Dels=0.00;FS=3.735;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;MQRankSum=0.728;QD=15.14;ReadPosRankSum=-0.860;VQSLOD=3.9468;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,40:66:99:1029,0,575 9 113234507 113234507 T C exonic SVEP1 nonsynonymous SNV SVEP1:NM_153366:exon15:c.A2696G:p.K899R 0.2 0.14 0.21 0.075 0.29 0.31 0.2493 0.1714 0.1268 0.0883 0.2159 0.3003 0.2283 0.2737 0.26 0.17 0.3 0.26 . rs10817025 COSM5002011;COSM5002012 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.293 N 1 0.090 P -2.36 0.001 N -1.01 0.762 T 0.33 0.039 N 0.018 0.003 -1.064 0.109 T 0.000 0.000 T . . . -0.766 0.042 0.051 0.086 0.001 0.134 0.176 N c -0.897 -0.662 0.001 0.078 0.554 0.283 0 4.15 0.478 0.590 0.235 -0.328 0.075 0.430 0.262 0.224 0.222 7.173 0.247 . . . 0.2440 0.1703 0.1380 0.3301 0.0851 0.2300 0.2970 0.2523 0.2735 0.2398 0.1848 0.1599 0.3245 0.0859 0.2334 0.2924 0.2434 het 2490.78 206 9 113234507 . T C 2490.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.522;DP=206;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5036;MQ=59.16;MQ0=0;MQRankSum=0.114;QD=12.09;ReadPosRankSum=0.610;VQSLOD=5.0663;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,96:206:99:2521,0,2895 9 113276356 113276356 C G exonic SVEP1 nonsynonymous SNV SVEP1:NM_153366:exon4:c.G995C:p.G332A 0.14 0.034 0.27 0.11 0.2 0.19 0.2197 0.0660 0.3811 0.1377 0.2691 0.2260 0.1957 0.1991 0.15 0.055 0.2 0.087 . rs3818764 COSM3763529;COSM3763528 1(pancreas);1(liver);1(large_intestine) . . . . . . . . . . . 0.312 0.139 T 0.067 0.222 B 0.044 0.252 B 0.000 0.537 N 0.982 0.249 P 0.785 0.196 N 2.52 0.142 T -1.4 0.346 N 0.03 0.036 -0.912 0.466 T 0.000 0.000 T . . . 1.530 0.246 13.47 0.962 0.284 0.848 0.436 D c -0.530 -0.343 0.002 0.089 0.487 0.133 0 3.61 0.403 1.757 0.378 -0.031 0.126 0.914 0.315 0.972 0.466 16.152 0.814 Growth factor receptor cysteine-rich domain|Tyrosine-protein kinase ephrin type A/B receptor-like . . 0.2013 0.0532 0.3271 0.0989 0.1202 0.2383 0.2047 0.1869 0.1792 0.1607 0.0545 0.2919 0.1067 0.1184 0.2370 0.2009 0.1929 het 241.97 33 9 113276356 . C G 241.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.783;DP=33;Dels=0.00;FS=1.533;HRun=1;HaplotypeScore=0.0000;MQ=57.70;MQ0=0;MQRankSum=0.134;QD=7.33;ReadPosRankSum=0.286;VQSLOD=3.3809;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,11:33:99:272,0,622 9 113457726 113457726 G A exonic MUSK synonymous SNV MUSK:NM_001166280:exon4:c.G402A:p.E134E,MUSK:NM_001166281:exon4:c.G402A:p.E134E,MUSK:NM_005592:exon4:c.G402A:p.E134E 0.17 0.15 0.12 0.22 0.19 0.17 0.2416 0.1905 0.2354 0.3367 0.1961 0.2641 0.1975 0.2078 0.15 0.12 0.17 0.22 . rs10980531 . . Benign|Benign not_specified|Congenital_Myasthenic_Syndrome\x2c_Recessive RCV000117647.3|RCV000348451.1 MedGen|MedGen CN169374|CN239337 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1585 0.1308 0.0851 0.1338 0.2115 0.1572 0.1765 0.1610 0.1750 0.1719 0.1436 0.1098 0.1367 0.2146 0.1469 0.1930 0.1833 het 124.52 17 9 113457726 . G A 124.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.955;DP=17;Dels=0.00;FS=1.913;HRun=1;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=-0.151;QD=7.32;ReadPosRankSum=0.653;VQSLOD=5.1786;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,6:17:99:155,0,325 9 113457799 113457799 A G exonic MUSK nonsynonymous SNV MUSK:NM_001166280:exon4:c.A475G:p.S159G,MUSK:NM_001166281:exon4:c.A475G:p.S159G,MUSK:NM_005592:exon4:c.A475G:p.S159G 0.11 0.0061 0.066 0.2 0.14 0.16 0.2084 0.0374 0.1655 0.2877 0.2998 0.2417 0.2088 0.1620 0.12 0.033 0.15 0.087 . rs35176182 COSM4407087;COSM4407086 1(liver) Benign|Benign not_specified|Congenital_Myasthenic_Syndrome\x2c_Recessive RCV000117648.3|RCV000402519.1 MedGen|MedGen CN169374|CN239337 . . . . . . 0.322 0.286 T 0.002 0.347 B 0.003 0.233 B 0.150 0.180 N 1 0.090 P -0.345 0.033 N -0.43 0.697 T -0.78 0.475 N 0.038 0.040 -1.084 0.065 T 0.000 0.000 T . . . 0.271 0.120 5.412 0.983 0.394 0.081 0.139 N c -0.805 -0.692 0.099 0.163 0.487 0.133 0 3.38 0.376 1.621 0.364 1.140 0.893 0.003 0.159 0.981 0.494 8.048 0.295 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.1486 0.0225 0.0603 0.1698 0.1978 0.2433 0.1616 0.1407 0.1500 0.1371 0.0275 0.0621 0.1589 0.1904 0.2414 0.1724 0.1731 het 244.61 17 9 113457799 . A G 244.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.050;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.050;QD=14.39;ReadPosRankSum=-0.251;VQSLOD=6.4825;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,11:17:99:275,0,127 9 113459655 113459655 C T exonic MUSK synonymous SNV MUSK:NM_001166280:exon5:c.C537T:p.N179N,MUSK:NM_001166281:exon5:c.C537T:p.N179N,MUSK:NM_005592:exon5:c.C537T:p.N179N 0.12 0.0068 0.072 0.2 0.17 0.19 0.1615 0.0268 0.0645 0.1884 0.2528 0.1798 0.1789 0.1839 0.13 0.035 0.17 0.11 . rs41279051 COSM43011;COSM5021611;COSM5021610 1(bone);1(breast);1(stomach);1(kidney);4(large_intestine);2(central_nervous_system) Benign|Likely benign not_specified|Congenital_Myasthenic_Syndrome\x2c_Recessive RCV000117649.3|RCV000273067.1 MedGen|MedGen CN169374|CN239337 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1613 0.0251 0.0649 0.1856 0.1924 0.2521 0.1780 0.1601 0.1825 0.1464 0.0303 0.0694 0.1854 0.1876 0.2484 0.1865 0.1884 het 2547.82 216 9 113459655 . C T 2547.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.675;DP=216;DS;Dels=0.00;FS=3.140;HRun=0;HaplotypeScore=6.4867;MQ=59.55;MQ0=0;MQRankSum=0.047;QD=11.80;ReadPosRankSum=1.042;VQSLOD=4.4391;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,96:216:99:2578,0,2854 9 113538122 113538122 G A exonic MUSK nonsynonymous SNV MUSK:NM_001166281:exon8:c.G975A:p.M325I,MUSK:NM_001166280:exon9:c.G1005A:p.M335I,MUSK:NM_005592:exon9:c.G1239A:p.M413I 0.1 0.0045 0.039 0.19 0.13 0.16 0.1210 0.0206 0.0372 0.2003 0.1541 0.1299 0.1133 0.1488 0.098 0.022 0.13 0.054 . rs2274419 COSM3763531;COSM3763530;COSM3763532 1(pancreas);1(oesophagus);1(skin);1(large_intestine) Benign|Likely benign not_specified|Congenital_Myasthenic_Syndrome\x2c_Recessive RCV000117642.3|RCV000375969.1 MedGen|MedGen CN169374|CN239337 . . . . . . 0.599 0.056 T 0.0 0.026 B 0.0 0.013 B 0.053 0.228 N 0.171 0.362 P 0.88 0.216 L -0.6 0.717 T -0.18 0.098 N 0.054 0.146 -1.097 0.045 T 0.000 0.000 T . . . 0.663 0.157 8.585 0.915 0.201 0.834 0.422 D c -0.610 -0.466 0.087 0.160 0.487 0.133 0 1.08 0.194 0.872 0.275 1.048 0.713 1.000 0.715 1.000 0.888 7.386 0.259 Frizzled domain . . 0.1197 0.0183 0.0393 0.0969 0.1965 0.1577 0.1328 0.1054 0.1495 0.1106 0.0230 0.0453 0.1060 0.1994 0.1533 0.1438 0.1405 het 992.96 153 9 113538122 . G A 992.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.127;DP=153;Dels=0.00;FS=2.449;HRun=0;HaplotypeScore=6.7441;MQ=59.39;MQ0=0;MQRankSum=-0.612;QD=6.49;ReadPosRankSum=1.003;VQSLOD=2.7986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,46:153:99:1023,0,2983 9 113637854 113637854 G A exonic LPAR1 synonymous SNV LPAR1:NM_001401:exon4:c.C942T:p.R314R,LPAR1:NM_001351397:exon5:c.C942T:p.R314R,LPAR1:NM_001351403:exon5:c.C942T:p.R314R,LPAR1:NM_001351406:exon5:c.C942T:p.R314R,LPAR1:NM_057159:exon5:c.C942T:p.R314R,LPAR1:NM_001351399:exon6:c.C942T:p.R314R,LPAR1:NM_001351402:exon6:c.C942T:p.R314R,LPAR1:NM_001351404:exon6:c.C942T:p.R314R,LPAR1:NM_001351405:exon6:c.C942T:p.R314R,LPAR1:NM_001351408:exon6:c.C942T:p.R314R,LPAR1:NM_001351411:exon6:c.C942T:p.R314R,LPAR1:NM_001351414:exon6:c.C942T:p.R314R,LPAR1:NM_001351416:exon6:c.C942T:p.R314R,LPAR1:NM_001351417:exon6:c.C942T:p.R314R,LPAR1:NM_001351419:exon6:c.C942T:p.R314R,LPAR1:NM_001351420:exon6:c.C942T:p.R314R,LPAR1:NM_001351398:exon7:c.C942T:p.R314R,LPAR1:NM_001351400:exon7:c.C942T:p.R314R,LPAR1:NM_001351401:exon7:c.C942T:p.R314R,LPAR1:NM_001351407:exon7:c.C942T:p.R314R,LPAR1:NM_001351409:exon7:c.C942T:p.R314R,LPAR1:NM_001351410:exon7:c.C942T:p.R314R,LPAR1:NM_001351412:exon7:c.C942T:p.R314R,LPAR1:NM_001351413:exon7:c.C942T:p.R314R,LPAR1:NM_001351415:exon7:c.C942T:p.R314R,LPAR1:NM_001351418:exon7:c.C942T:p.R314R 0.13 0.011 0.16 0.19 0.2 0.15 0.1749 0.0396 0.2025 0.1903 0.1777 0.1896 0.1729 0.1727 0.14 0.045 0.19 0.054 0.2 rs3739709 COSM1459297 1(haematopoietic_and_lymphoid_tissue);3(urinary_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1774 0.0376 0.2033 0.1550 0.1825 0.1769 0.1921 0.1754 0.1705 0.1479 0.0377 0.1933 0.1159 0.1729 0.1768 0.1969 0.2076 het 2147.80 185 9 113637854 . G A 2147.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.405;DP=185;Dels=0.00;FS=0.551;HRun=0;HaplotypeScore=5.7390;MQ=58.86;MQ0=0;MQRankSum=1.102;QD=11.61;ReadPosRankSum=0.593;VQSLOD=5.3522;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,86:185:99:2178,0,2621 9 114090279 114090279 A G exonic OR2K2 synonymous SNV OR2K2:NM_205859:exon1:c.T435C:p.A145A 0.49 0.32 0.58 0.5 0.63 0.5 0.5862 0.3877 0.6244 0.4963 0.6148 0.6370 0.5509 0.5156 0.56 0.4 0.64 0.42 0.72 rs314452 COSM3763533;COSM3763534 1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5889 0.3766 0.6110 0.5854 0.4945 0.6221 0.6397 0.5878 0.5178 0.5598 0.3754 0.6031 0.5397 0.5261 0.6106 0.6513 0.6418 het 1814.26 163 9 114090279 . A G 1814.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.952;DP=163;Dels=0.00;FS=4.744;HRun=1;HaplotypeScore=5.2594;MQ=59.08;MQ0=0;MQRankSum=-0.149;QD=11.13;ReadPosRankSum=1.550;VQSLOD=4.7079;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,69:163:99:1844,0,2358 9 114359624 114359624 C A exonic PTGR1 nonsynonymous SNV PTGR1:NM_001146108:exon2:c.G79T:p.A27S,PTGR1:NM_001146109:exon2:c.G79T:p.A27S,PTGR1:NM_012212:exon2:c.G79T:p.A27S 0.6 0.55 0.58 0.66 0.57 0.64 0.6010 0.5607 0.5964 0.6427 0.6030 0.5956 0.5622 0.6302 0.59 0.56 0.6 0.62 0.55 rs1053959 COSM3763535;COSM5428183 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.227 0.223 T 0.019 0.167 B 0.03 0.205 B 0.202 0.166 N 1 0.090 P 1.135 0.291 L 0.97 0.425 T -0.01 0.072 N 0.038 0.202 -0.935 0.434 T 0.000 0.000 T . . . 1.324 0.223 12.40 0.868 0.162 0.072 0.131 N c -1.017 -0.989 1.000 0.405 0.722 0.854 0 -0.431 0.116 -0.075 0.113 -0.294 0.082 0.000 0.063 0.969 0.458 8.686 0.332 GroES-like ENSG00000106853.12|ENSG00000106853.12|ENSG00000106853.12|ENSG00000106853.12|ENSG00000106853.12|ENSG00000106853.12|ENSG00000106853.12|ENSG00000106853.12 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.5977 0.5544 0.5808 0.5301 0.6493 0.6088 0.5975 0.5691 0.6277 0.5978 0.5656 0.5837 0.55 0.6716 0.6007 0.6063 0.6469 het 782.02 64 9 114359624 . C A 782.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.387;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9900;MQ=59.42;MQ0=0;MQRankSum=0.712;QD=12.22;ReadPosRankSum=0.054;VQSLOD=6.4559;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,33:64:99:812,0,878 9 114411945 114411945 G T exonic DNAJC25 synonymous SNV DNAJC25:NM_001015882:exon3:c.G702T:p.G234G 0.31 0.35 0.43 0.41 0.23 0.16 0.2670 0.3326 0.4751 0.4546 0.3098 0.2183 0.2775 0.1626 0.24 0.32 0.21 0.37 0.11 rs7019332 COSM3982685 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2756 0.3350 0.4628 0.2216 0.4547 0.3070 0.2139 0.2686 0.1613 0.2773 0.3228 0.4318 0.1887 0.4365 0.3141 0.2198 0.2567 het 254.70 26 9 114411945 . G T 254.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.217;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.411;QD=9.80;ReadPosRankSum=0.301;VQSLOD=6.4701;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,11:26:99:285,0,423 9 114454580 114454580 A G exonic C9orf84 nonsynonymous SNV C9orf84:NM_001080551:exon23:c.T3368C:p.I1123T,C9orf84:NM_173521:exon25:c.T3485C:p.I1162T 1. 1. 1. 1. 0.99 1. 0.9969 0.9997 0.9987 1 0.9844 0.9963 0.9912 0.9999 1. 1. 1. 1. 0.98 rs1475110 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.842 0.070 N 1 0.090 P -1.15 0.009 N 3.75 0.040 T 1.26 0.010 N 0.01 0.001 -1.006 0.282 T 0.000 0.000 T . . . -1.595 0.015 0.002 0.106 0.001 0.016 0.052 N c -1.291 -1.178 0.968 0.290 0.526 0.212 0 3.2 0.357 0.307 0.189 0.037 0.153 0.113 0.228 0.002 0.062 3.281 0.065 . . . 0.9963 0.9997 0.9982 0.9995 1 0.9830 0.9962 0.9943 0.9999 0.9956 0.9987 0.9988 1 1 0.9823 0.9965 0.9918 hom 3495.27 105 9 114454580 . A G 3495.27 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;QD=33.29;VQSLOD=9.1274;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3495,274,0 9 114462322 114462322 A G exonic C9orf84 nonsynonymous SNV C9orf84:NM_001080551:exon20:c.T2786C:p.L929P,C9orf84:NM_173521:exon22:c.T2903C:p.L968P 0.83 0.8 0.87 0.93 0.8 0.79 0.8121 0.8051 0.8951 0.9261 0.8353 0.7843 0.8040 0.8024 0.79 0.81 0.79 0.83 0.66 rs6477845 . . . . . . . . . . . . . 0.373 0.160 T 0.0 0.026 B 0.0 0.013 B 0.430 0.127 N 0.993 0.237 P -0.69 0.019 N 3.52 0.049 T 0.56 0.027 N 0.097 0.152 -1.093 0.051 T 0.000 0.000 T . . . 0.456 0.138 7.084 0.747 0.104 0.077 0.136 N c -1.334 -1.294 0.685 0.225 0.554 0.283 0 -0.713 0.106 0.450 0.213 -0.710 0.037 0.186 0.239 0.159 0.207 2.007 0.032 . ENSG00000165181.12 Testis 0.8157 0.8031 0.8894 0.7535 0.9245 0.8342 0.7850 0.8005 0.8031 0.8139 0.8042 0.8831 0.7682 0.9048 0.8336 0.7997 0.8520 hom 1468.75 47 9 114462322 . A G 1468.75 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=31.25;VQSLOD=9.4829;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1502,117,0 9 114464487 114464487 T C exonic C9orf84 nonsynonymous SNV C9orf84:NM_001080551:exon19:c.A2678G:p.Y893C,C9orf84:NM_173521:exon21:c.A2795G:p.Y932C 0.85 0.86 0.87 0.93 0.8 0.79 0.8179 0.8499 0.8993 0.9262 0.8354 0.7870 0.8078 0.8028 0.81 0.86 0.79 0.83 0.63 rs1407390 COSM5618300;COSM5618301 1(breast) . . . . . . . . . . . 0.73 0.039 T 0.0 0.026 B 0.001 0.040 B 0.404 0.131 N 1.000 0.182 P -0.77 0.017 N 3.64 0.043 T 2.34 0.003 N 0.04 0.083 -1.052 0.137 T 0.000 0.000 T . . . 0.824 0.173 9.610 0.267 0.013 0.042 0.096 N c -1.270 -1.155 0.005 0.108 0.487 0.133 0 -2.51 0.060 -1.132 0.033 -0.455 0.056 0.004 0.165 0.882 0.370 9.931 0.405 . ENSG00000165181.12 Testis 0.8191 0.8489 0.8910 0.7558 0.9246 0.8346 0.7859 0.8024 0.8022 0.8264 0.8468 0.8866 0.7682 0.9049 0.8336 0.8004 0.8534 hom 2558.23 77 9 114464487 . T C 2558.23 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=33.22;VQSLOD=9.2928;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2591,199,0 9 114468966 114468966 A C exonic C9orf84 nonsynonymous SNV C9orf84:NM_001080551:exon16:c.T2310G:p.N770K,C9orf84:NM_173521:exon18:c.T2427G:p.N809K 0.22 0.33 0.22 0.048 0.25 0.21 0.2208 0.3276 0.1572 0.0519 0.2125 0.2315 0.2070 0.2478 0.28 0.34 0.25 0.3 0.24 rs7036568 COSM1459334;COSM1459335 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.043 T 0.0 0.026 B 0.001 0.063 B 0.982 0.078 N 1 0.090 P 1.87 0.498 L 3.69 0.041 T -1.73 0.454 N 0.039 0.019 -0.923 0.452 T 0.000 0.000 T . . . -1.183 0.026 0.007 0.182 0.006 0.028 0.074 N c -1.644 -1.617 0.036 0.142 0.487 0.133 0 -3.94 0.038 -0.149 0.101 -1.365 0.012 0.001 0.137 0.662 0.301 2.533 0.044 . ENSG00000165181.12 Skin_Sun_Exposed_Lower_leg 0.2147 0.3262 0.1596 0.1944 0.0504 0.2123 0.2350 0.2182 0.2452 0.2484 0.3302 0.1802 0.1788 0.0588 0.2116 0.2359 0.2367 het 2098.43 170 9 114468966 . A C 2098.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.677;DP=170;Dels=0.00;FS=7.712;HRun=0;HaplotypeScore=5.7936;MQ=59.18;MQ0=0;MQRankSum=0.909;QD=12.34;ReadPosRankSum=-0.248;VQSLOD=4.8227;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,84:170:99:2128,0,2050 9 114476748 114476748 T A exonic C9orf84 nonsynonymous SNV C9orf84:NM_001080551:exon13:c.A2083T:p.M695L,C9orf84:NM_173521:exon15:c.A2200T:p.M734L 0.14 0.14 0.2 0.027 0.23 0.14 0.1828 0.1640 0.1421 0.0222 0.2011 0.2117 0.1751 0.1834 0.21 0.17 0.23 0.21 0.23 rs11791445 COSM1179842;COSM1179843 1(prostate);1(large_intestine) . . . . . . . . . . . 0.356 0.120 T 0.028 0.184 B 0.016 0.166 B 0.017 0.278 N 0.997 0.228 P 1.69 0.435 L 3.78 0.039 T -0.85 0.289 N 0.076 0.098 -0.896 0.484 T 0.000 0.000 T . . . 1.720 0.268 14.52 0.910 0.197 0.811 0.403 D c -0.416 -0.222 0.026 0.137 0.487 0.133 0 2.93 0.329 0.583 0.234 0.025 0.148 1.000 0.715 0.986 0.517 7.442 0.262 . ENSG00000165181.12 Skin_Sun_Exposed_Lower_leg 0.1829 0.1638 0.1474 0.1912 0.0218 0.1996 0.2154 0.1989 0.1858 0.1871 0.1653 0.1639 0.1755 0.0271 0.1979 0.2147 0.2071 het 2548.74 188 9 114476748 . T A 2548.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=188;Dels=0.00;FS=6.260;HRun=1;HaplotypeScore=5.7539;MQ=59.12;MQ0=0;MQRankSum=0.818;QD=13.56;ReadPosRankSum=1.420;VQSLOD=4.3998;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,106:188:99:2579,0,2071 9 114484783 114484783 A G exonic C9orf84 synonymous SNV C9orf84:NM_001080551:exon11:c.T1728C:p.P576P,C9orf84:NM_173521:exon13:c.T1845C:p.P615P 0.14 0.14 0.2 0.028 0.23 0.14 0.1830 0.1641 0.1421 0.0222 0.2011 0.2119 0.1751 0.1834 0.21 0.17 0.23 0.21 0.23 rs12352352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1822 0.1634 0.1446 0.1898 0.0214 0.1993 0.2154 0.1983 0.1834 0.1873 0.1653 0.1623 0.1767 0.0260 0.1990 0.2150 0.2086 het 1734.13 118 9 114484783 . A G 1734.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.881;DP=118;Dels=0.00;FS=3.396;HRun=3;HaplotypeScore=3.4653;MQ=59.61;MQ0=0;MQRankSum=0.717;QD=14.70;ReadPosRankSum=-1.327;VQSLOD=5.7033;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,59:118:99:1764,0,1494 9 114484837 114484837 G T exonic C9orf84 synonymous SNV C9orf84:NM_001080551:exon11:c.C1674A:p.L558L,C9orf84:NM_173521:exon13:c.C1791A:p.L597L 0.098 0.0008 0.049 0.11 0.1 0.24 0.1034 0.0144 0.0392 0.1016 0.1466 0.0982 0.1013 0.2094 0.064 0.017 0.088 0.043 0.11 rs62569959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0985 0.0124 0.0368 0.0559 0.0995 0.1436 0.0966 0.0884 0.2015 0.0744 0.0149 0.0501 0.0530 0.1038 0.1399 0.0896 0.1171 het 1049.93 99 9 114484837 . G T 1049.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.294;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.88;MQ0=0;MQRankSum=0.544;QD=10.61;ReadPosRankSum=-0.312;VQSLOD=6.5428;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,46:99:99:1080,0,1355 9 114490229 114490229 T G exonic C9orf84 synonymous SNV C9orf84:NM_001080551:exon9:c.A1209C:p.A403A,C9orf84:NM_173521:exon11:c.A1326C:p.A442A 0.14 0.14 0.2 0.028 0.23 0.14 0.1832 0.1643 0.1425 0.0223 0.2012 0.2122 0.1748 0.1835 0.21 0.17 0.23 0.21 0.23 rs10512411 COSM3763538;COSM3763539 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1824 0.1638 0.1468 0.1893 0.0218 0.1993 0.2153 0.1978 0.1843 0.1871 0.1652 0.1627 0.1755 0.0272 0.1987 0.2147 0.2082 het 1238.24 72 9 114490229 . T G 1238.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.312;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=59.74;MQ0=0;MQRankSum=0.086;QD=17.20;ReadPosRankSum=2.313;VQSLOD=5.2900;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,42:72:99:1268,0,801 9 114490308 114490308 T C exonic C9orf84 nonsynonymous SNV C9orf84:NM_001080551:exon9:c.A1130G:p.H377R,C9orf84:NM_173521:exon11:c.A1247G:p.H416R 0.83 0.79 0.87 0.93 0.79 0.79 0.8068 0.7965 0.8913 0.9256 0.8309 0.7775 0.7911 0.8020 0.79 0.8 0.78 0.8 0.7 rs7470491 COSM5765422;COSM5765423 1(large_intestine) . . . . . . . . . . . 0.383 0.111 T 0.0 0.026 B 0.001 0.040 B 0.483 0.050 N 1 0.090 P 0.345 0.112 N 1.05 0.400 T 0.27 0.043 N 0.0 0.000 -1.017 0.247 T 0.000 0.000 T . . . -3.147 0.001 0.001 0.132 0.003 0.009 0.036 N c -1.615 -1.607 1.000 0.500 0.487 0.133 0 -3.13 0.049 -0.145 0.102 -1.774 0.007 0.000 0.063 0.003 0.074 5.835 0.177 . ENSG00000165181.12 Testis 0.8082 0.7934 0.8816 0.7516 0.9252 0.8279 0.7757 0.7997 0.7966 0.8058 0.7961 0.8780 0.7682 0.9059 0.8289 0.7893 0.8463 hom 1224.06 47 9 114490308 . T C 1224.06 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=26.04;VQSLOD=6.9875;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1257,99,0 9 114688677 114688677 G A exonic UGCG synonymous SNV UGCG:NM_003358:exon5:c.G459A:p.T153T 0.013 0.0008 0.014 0.001 0.034 0.021 0.0233 0.0064 0.0071 0 0.0212 0.0306 0.0221 0.0291 0.021 0.0073 0.028 . . rs17853855 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0216 0.0047 0.0067 0.0109 0 0.0217 0.0310 0.0184 0.0274 0.0161 0.0048 0.0060 0.0099 0.0006 0.0129 0.0252 0.0235 het 1899.50 162 9 114688677 . G A 1899.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.603;DP=162;Dels=0.00;FS=3.523;HRun=0;HaplotypeScore=4.5324;MQ=58.48;MQ0=0;MQRankSum=0.394;QD=11.73;ReadPosRankSum=-3.301;VQSLOD=3.5791;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,76:162:99:1929,0,2148 9 114804173 114804173 G A exonic SUSD1 synonymous SNV SUSD1:NM_022486:exon16:c.C2217T:p.L739L 0.069 0.0053 0.035 0.062 0.082 0.17 0.0885 0.0147 0.0222 0.0702 0.1404 0.0867 0.0804 0.1765 0.06 0.015 0.082 0.076 0.057 rs3849117 COSM5021612 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0837 0.0127 0.0249 0.0524 0.0663 0.1301 0.0831 0.0691 0.1738 0.0656 0.0158 0.0370 0.0728 0.0555 0.1342 0.0789 0.0978 het 781.16 78 9 114804173 . G A 781.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.286;DP=78;Dels=0.00;FS=4.777;HRun=1;HaplotypeScore=2.3149;MQ=59.22;MQ0=0;MQRankSum=1.406;QD=10.01;ReadPosRankSum=-1.183;VQSLOD=5.4704;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,33:78:99:811,0,1338 9 114982463 114982463 T C exonic PTBP3 nonsynonymous SNV PTBP3:NM_001244897:exon14:c.A1633G:p.T545A 0.57 0.87 0.45 0.39 0.47 0.52 0.5548 0.8136 0.5443 0.4595 0.4677 0.5444 0.5390 0.5359 0.56 0.79 0.46 0.64 . rs7855745 COSN8810932;COSN8810931 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4730 0.8052 0.4355 0.4041 0.3553 0.4036 0.4720 0.4540 0.4956 0.5488 0.7946 0.4450 0.3841 0.3462 0.4013 0.4747 0.4928 het 274.32 20 9 114982463 . T C 274.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.115;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.304;QD=13.72;ReadPosRankSum=0.380;VQSLOD=6.7482;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,11:20:99:304,0,256 9 114982549 114982549 C T exonic PTBP3 nonsynonymous SNV PTBP3:NM_001244897:exon14:c.G1547A:p.S516N 0.57 0.87 0.45 0.39 0.47 0.52 0.5296 0.8107 0.4976 0.4384 0.4495 0.5177 0.5323 0.5201 0.56 0.79 0.46 0.67 . rs7869523 COSN8810933;COSN8810934 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4709 0.8026 0.4354 0.4028 0.3548 0.4034 0.4688 0.4563 0.4943 0.5487 0.7943 0.4439 0.3867 0.3476 0.4011 0.4746 0.4908 het 315.09 34 9 114982549 . C T 315.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.559;DP=34;Dels=0.00;FS=10.991;HRun=1;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=0.703;QD=9.27;ReadPosRankSum=2.036;VQSLOD=3.8160;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,12:34:99:345,0,519 9 115567184 115567184 T C exonic SNX30 synonymous SNV SNX30:NM_001012994:exon2:c.T285C:p.V95V 0.96 0.98 0.97 1. 0.91 0.94 0.9279 0.9700 0.9684 0.9994 0.9218 0.9062 0.9268 0.9277 0.93 0.97 0.91 0.97 0.93 rs1891402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9315 0.9722 0.9678 0.9239 0.9995 0.9206 0.9085 0.9262 0.9284 0.9346 0.9693 0.9570 0.9371 0.9994 0.9199 0.9106 0.9182 het 2851.30 250 9 115567184 . T C 2851.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.709;DP=250;DS;Dels=0.00;FS=0.461;HRun=0;HaplotypeScore=3.8701;MQ=59.56;MQ0=0;MQRankSum=1.002;QD=11.41;ReadPosRankSum=-0.380;VQSLOD=5.4050;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:2881,0,3693 9 115580008 115580008 G C exonic SNX30 synonymous SNV SNX30:NM_001012994:exon3:c.G372C:p.L124L 0.76 0.64 0.79 0.79 0.79 0.86 0.7925 0.6770 0.7224 0.8178 0.8413 0.7972 0.8289 0.8565 0.77 0.68 0.8 0.8 0.82 rs10117709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7961 0.6746 0.7363 0.8327 0.8213 0.8376 0.7979 0.8046 0.8578 0.7752 0.6833 0.7548 0.8642 0.8269 0.8386 0.8051 0.8135 het 608.86 97 9 115580008 . G C 608.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.494;DP=97;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=0.964;QD=6.28;ReadPosRankSum=-1.050;VQSLOD=5.1126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,30:97:99:639,0,1753 9 115600848 115600848 T C exonic SNX30 synonymous SNV SNX30:NM_001012994:exon6:c.T885C:p.A295A 0.99 1. 1. 1. 0.97 0.99 0.9806 0.9952 0.9958 1 0.9843 0.9696 0.9911 0.9933 0.98 1. 0.97 1. 1. rs7023478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9828 0.9953 0.9947 0.9972 0.9999 0.9829 0.9703 0.9872 0.9937 0.9828 0.9952 0.9952 0.9933 1 0.9825 0.9733 0.9765 het 2922.81 188 9 115600848 . T C 2922.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.942;DP=188;Dels=0.00;FS=1.971;HRun=1;HaplotypeScore=7.3091;MQ=59.07;MQ0=0;MQRankSum=0.466;QD=15.55;ReadPosRankSum=-0.100;VQSLOD=4.4475;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,107:188:99:2953,0,2338 9 115818949 115818949 A T exonic ZFP37 nonsynonymous SNV ZFP37:NM_001282515:exon1:c.T20A:p.V7D,ZFP37:NM_001282518:exon1:c.T20A:p.V7D,ZFP37:NM_003408:exon1:c.T20A:p.V7D 0.5 0.38 0.54 0.53 0.59 0.49 0.5576 0.4137 0.5188 0.5146 0.6600 0.5982 0.5595 0.4928 0.54 0.43 0.59 0.49 0.25 rs2282076 COSM3982702;COSM5482489 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.657 0.047 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 3.46 0.062 T 0.4 0.093 N 0.061 0.123 -0.990 0.325 T 0.000 0.000 T . . . -0.570 0.051 0.147 0.543 0.050 0.000 0.002 N c -1.627 -1.670 1.000 0.747 0.243 0.034 2 -2.19 0.066 -0.596 0.058 -1.279 0.014 0.000 0.063 0.000 0.016 0.036 0.000 . ENSG00000136866.9|ENSG00000136866.9|ENSG00000225684.3|ENSG00000136866.9 Adipose_Subcutaneous|Esophagus_Mucosa|Testis|Thyroid 0.5615 0.4124 0.5328 0.5652 0.5111 0.6507 0.5989 0.5723 0.4924 0.5514 0.4298 0.5789 0.5795 0.5075 0.6500 0.5987 0.6 het 1454.20 120 9 115818949 . A T 1454.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.842;DP=120;Dels=0.00;FS=0.842;HRun=0;HaplotypeScore=7.8712;MQ=59.30;MQ0=0;MQRankSum=-1.581;QD=12.12;ReadPosRankSum=0.614;VQSLOD=3.1886;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,60:120:99:1484,0,1476 9 115931692 115931692 A G exonic FKBP15 synonymous SNV FKBP15:NM_015258:exon26:c.T3297C:p.T1099T 0.19 0.21 0.28 0.19 0.17 0.13 0.1796 0.2156 0.2537 0.2080 0.1557 0.1728 0.1882 0.1281 0.19 0.21 0.18 0.28 . rs3810909 COSM4418350;COSM150678 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1827 0.2172 0.2497 0.1627 0.2079 0.1531 0.1766 0.1805 0.1287 0.1843 0.2179 0.2291 0.1821 0.2077 0.1538 0.1672 0.1783 het 2110.94 147 9 115931692 . A G 2110.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.745;DP=147;Dels=0.00;FS=1.386;HRun=1;HaplotypeScore=4.5611;MQ=59.43;MQ0=0;MQRankSum=0.626;QD=14.36;ReadPosRankSum=0.661;VQSLOD=5.8566;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,72:147:99:2141,0,2044 9 115941046 115941046 T C exonic FKBP15 synonymous SNV FKBP15:NM_015258:exon20:c.A1950G:p.A650A 0.085 0.015 0.084 0.055 0.18 0.12 0.1912 0.0425 0.1712 0.0719 0.3012 0.2281 0.1967 0.1486 0.13 0.035 0.18 0.098 . rs3810912 COSM3763542;COSM3763543 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1554 0.0317 0.1287 0.1579 0.0513 0.2598 0.1840 0.1687 0.1206 0.1482 0.0401 0.1408 0.1325 0.0537 0.2619 0.1929 0.1906 het 232.90 20 9 115941046 . T C 232.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.076;DP=20;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.076;QD=11.65;ReadPosRankSum=1.368;VQSLOD=5.9426;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,9:20:99:263,0,234 9 115950706 115950706 A C exonic FKBP15 nonsynonymous SNV FKBP15:NM_015258:exon13:c.T1239G:p.H413Q 0.53 0.49 0.51 0.43 0.6 0.61 0.5643 0.4911 0.5117 0.4617 0.5877 0.5835 0.5725 0.6100 0.55 0.51 0.58 0.48 . rs10435864 COSM5618403;COSM5618402;COSM5618404 1(breast) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.182 P -2.665 0.000 N 2.13 0.266 T 2.03 0.004 N 0.035 0.034 -0.920 0.456 T 0.000 0.000 T . . . -0.417 0.060 0.352 0.689 0.085 0.074 0.133 N c -1.364 -1.043 1.000 0.747 0.731 0.878 0 3.86 0.435 0.154 0.160 -0.336 0.073 0.997 0.399 0.995 0.604 8.420 0.317 . ENSG00000119321.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000119321.4|ENSG00000119411.10|ENSG00000119431.5|ENSG00000119321.4|ENSG00000136868.9|ENSG00000176386.4|ENSG00000119411.10|ENSG00000148218.11|ENSG00000119411.10|ENSG00000119431.5|ENSG00000176386.4|ENSG00000119321.4|ENSG00000119411.10|ENSG00000119321.4|ENSG00000176386.4|ENSG00000136867.6|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood 0.5610 0.4920 0.5164 0.6139 0.4495 0.5786 0.5790 0.5817 0.6082 0.5587 0.4969 0.5324 0.6291 0.4752 0.5938 0.5937 0.5873 het 864.84 56 9 115950706 . A C 864.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.217;DP=56;Dels=0.00;FS=1.059;HRun=0;HaplotypeScore=3.5825;MQ=58.33;MQ0=0;MQRankSum=0.670;QD=15.44;ReadPosRankSum=-0.008;VQSLOD=5.5836;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,31:56:99:895,0,554 9 116044998 116044998 A G exonic PRPF4 synonymous SNV PRPF4:NM_001244926:exon4:c.A465G:p.K155K,PRPF4:NM_004697:exon4:c.A468G:p.K156K 0.41 0.46 0.21 0.43 0.32 0.57 0.3687 0.4386 0.2210 0.4261 0.2909 0.3454 0.3389 0.5246 0.38 0.45 0.34 0.51 0.33 rs11552582 COSM3763544 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3602 0.4332 0.2264 0.4773 0.4236 0.2910 0.3403 0.3489 0.5215 0.3591 0.4242 0.2422 0.4669 0.4192 0.2949 0.3346 0.3535 het 1063.62 81 9 116044998 . A G 1063.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.782;DP=81;Dels=0.00;FS=4.332;HRun=0;HaplotypeScore=0.0000;MQ=58.38;MQ0=0;MQRankSum=0.203;QD=13.13;ReadPosRankSum=-0.837;VQSLOD=5.3455;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,42:81:99:1094,0,882 9 116053252 116053252 C T exonic PRPF4 nonsynonymous SNV PRPF4:NM_001244926:exon13:c.C1328T:p.T443I,PRPF4:NM_001322266:exon13:c.C602T:p.T201I,PRPF4:NM_001322267:exon13:c.C602T:p.T201I,PRPF4:NM_004697:exon13:c.C1331T:p.T444I . . . . . . 0.0003 0 0 0 0 0.0006 0 0 0.0001 . 0.0001 . . rs199753287 . . . . . . . . . . . . . 0.036 0.433 D 0.999 0.764 D 0.983 0.759 D 0.000 0.843 D 1 0.810 D 1.895 0.505 L 0.13 0.610 T -4.97 0.820 D 0.859 0.853 -0.450 0.704 T 0.331 0.698 T 0.041 0.601 D 6.545 0.901 31 0.999 0.963 0.998 0.996 D c 0.788 0.806 1.000 0.747 0.719 0.830 0 5.82 0.927 7.215 0.773 0.935 0.490 1.000 0.715 0.996 0.625 17.255 0.869 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.0003 0 0 0 0 0.0002 0.0005 0 0 0.0001 0 0 0 0 0 0.0003 0 het 2265.36 149 9 116053252 . C T 2265.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.825;DP=149;Dels=0.00;FS=4.373;HRun=0;HaplotypeScore=0.8667;MQ=59.16;MQ0=0;MQRankSum=1.396;QD=15.20;ReadPosRankSum=-1.039;VQSLOD=4.0911;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,85:149:99:2295,0,1677 9 116060124 116060124 T C exonic RNF183 nonsynonymous SNV RNF183:NM_145051:exon2:c.A341G:p.Q114R 0.41 0.45 0.21 0.42 0.32 0.57 0.3648 0.4317 0.2199 0.4177 0.2901 0.3419 0.3348 0.5266 0.37 0.43 0.34 0.49 0.27 rs3750534 COSM1755887 5(urinary_tract);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.936 0.022 T . . . . . . 0.192 0.168 N 1 0.090 P -0.975 0.012 N 2.35 0.162 T 0.44 0.033 N 0.016 0.003 -0.938 0.429 T 0.000 0.000 T . . . -1.384 0.020 0.003 0.547 0.051 0.004 0.021 N c -0.509 -0.547 1.000 0.428 0.554 0.246 0 3.16 0.353 0.091 0.148 0.016 0.142 0.000 0.063 0.806 0.338 4.768 0.124 . ENSG00000176386.4|ENSG00000165188.9|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000119431.5|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000119411.10|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000119411.10|ENSG00000119431.5|ENSG00000176386.4|ENSG00000148218.11|ENSG00000119411.10|ENSG00000119431.5|ENSG00000176386.4|ENSG00000176386.4|ENSG00000119411.10|ENSG00000136875.8|ENSG00000119321.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000165188.9|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000165188.9|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000119321.4|ENSG00000176386.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3581 0.4296 0.2266 0.4718 0.4166 0.2897 0.3378 0.3485 0.5226 0.3556 0.4225 0.2404 0.4667 0.4080 0.2937 0.3300 0.3498 het 938.03 70 9 116060124 . T C 938.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.106;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=-0.414;QD=13.40;ReadPosRankSum=0.318;VQSLOD=6.8089;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:35,34:70:99:968,0,1058 9 116060221 116060221 C T exonic RNF183 nonsynonymous SNV RNF183:NM_145051:exon2:c.G244A:p.A82T 0.4 0.45 0.2 0.42 0.3 0.57 0.3537 0.4303 0.2127 0.4168 0.2865 0.3248 0.3248 0.5195 0.36 0.44 0.33 0.47 0.29 rs3750533 COSM3763545 1(urinary_tract);1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.202 0.166 N 1 0.090 P -0.975 0.012 N -3.13 0.928 D -0.3 0.119 N 0.007 0.000 -1.023 0.228 T 0.000 0.000 T . . . 1.512 0.244 13.38 0.718 0.094 0.009 0.036 N c -0.271 -0.233 1.000 0.480 0.487 0.133 0 5.17 0.707 0.004 0.129 0.154 0.240 0.001 0.137 0.974 0.471 9.276 0.367 . ENSG00000176386.4|ENSG00000165188.9|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000119431.5|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000119411.10|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000119411.10|ENSG00000119431.5|ENSG00000176386.4|ENSG00000148218.11|ENSG00000119411.10|ENSG00000119431.5|ENSG00000176386.4|ENSG00000176386.4|ENSG00000119411.10|ENSG00000136875.8|ENSG00000119321.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000165188.9|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000165188.9|ENSG00000176386.4|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000119321.4|ENSG00000176386.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.3473 0.4275 0.2198 0.4245 0.4162 0.2872 0.3230 0.3356 0.5171 0.3493 0.4210 0.2351 0.4205 0.4089 0.2903 0.3201 0.3470 het 1265.57 98 9 116060221 . C T 1265.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.309;DP=98;Dels=0.00;FS=3.918;HRun=0;HaplotypeScore=4.9959;MQ=58.78;MQ0=0;MQRankSum=1.221;QD=12.91;ReadPosRankSum=-0.854;VQSLOD=5.1014;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,46:98:99:1296,0,1228 9 116082647 116082647 C G exonic WDR31 nonsynonymous SNV WDR31:NM_001006615:exon8:c.G395C:p.C132S,WDR31:NM_001012361:exon9:c.G770C:p.C257S,WDR31:NM_145241:exon9:c.G767C:p.C256S 0.1 0.0098 0.092 0.046 0.19 0.2 0.1703 0.0369 0.1324 0.0507 0.2077 0.2027 0.1777 0.1977 0.15 0.046 0.21 0.087 0.18 rs41307479 COSM3763546 1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 0.91 0.514 P 0.469 0.513 P 0.000 0.843 D 0.000 0.588 P 2.83 0.826 M 3.4 0.057 T -5.95 0.891 D 0.323 0.409 -0.925 0.448 T 0.000 0.000 T . . . 6.221 0.859 28.8 0.992 0.565 0.974 0.742 D c 0.526 0.569 1.000 0.747 0.549 0.223 0 5.84 0.934 5.284 0.652 0.843 0.344 1.000 0.715 1.000 0.888 16.215 0.819 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000148225.11|ENSG00000119431.5|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000136875.8|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000119431.5|ENSG00000176386.4|ENSG00000136875.8|ENSG00000148218.11|ENSG00000148225.11|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000119321.4|ENSG00000176386.4|ENSG00000148225.11|ENSG00000176386.4|ENSG00000136875.8|ENSG00000119411.10|ENSG00000136875.8|ENSG00000136875.8|ENSG00000136875.8|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000136875.8|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1722 0.0339 0.1360 0.1694 0.0486 0.2072 0.2068 0.1819 0.1981 0.1528 0.0412 0.1408 0.1656 0.0463 0.2089 0.2126 0.2133 het 2358.35 188 9 116082647 . C G 2358.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.730;DP=188;Dels=0.00;FS=2.561;HRun=0;HaplotypeScore=2.8933;MQ=59.56;MQ0=0;MQRankSum=0.389;QD=12.54;ReadPosRankSum=-0.413;VQSLOD=6.2332;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:102,86:188:99:2388,0,2635 9 116122954 116122954 A G exonic BSPRY synonymous SNV BSPRY:NM_001317943:exon3:c.A468G:p.K156K,BSPRY:NM_001317944:exon3:c.A468G:p.K156K,BSPRY:NM_017688:exon3:c.A468G:p.K156K 0.36 0.54 0.33 0.39 0.2 0.29 0.3017 0.5135 0.4067 0.4378 0.1743 0.2401 0.2823 0.3054 0.29 0.46 0.21 0.46 0.3 rs752757 COSM455183 1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2615 0.4881 0.3547 0.2608 0.3979 0.1174 0.2075 0.2523 0.2743 0.2868 0.4775 0.3457 0.2980 0.3720 0.1254 0.2051 0.2214 het 266.87 25 9 116122954 . A G 266.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.415;DP=25;Dels=0.00;FS=1.565;HRun=0;HaplotypeScore=1.6988;MQ=59.07;MQ0=0;MQRankSum=-0.779;QD=10.67;ReadPosRankSum=-0.318;VQSLOD=6.4557;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:297,0,304 9 116132334 116132334 C T exonic BSPRY nonsynonymous SNV BSPRY:NM_001317943:exon6:c.C1136T:p.T379I,BSPRY:NM_017688:exon6:c.C1121T:p.T374I 0.13 0.0068 0.089 0.14 0.18 0.24 0.1732 0.0338 0.1042 0.1553 0.2020 0.1918 0.1652 0.2256 0.14 0.037 0.19 0.13 0.17 rs3088235 COSM3763547 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.714 0.402 P 0.34 0.406 B 0.000 0.497 D 1.000 0.090 P 2.25 0.640 M -0.46 0.700 T -2.14 0.485 N 0.161 0.193 -1.069 0.096 T 0.000 0.002 T . . . 0.086 0.102 3.461 0.587 0.059 0.290 0.235 N c -0.371 -0.455 1.000 0.747 0.675 0.548 0 3.86 0.435 2.923 0.483 0.935 0.490 0.032 0.204 0.617 0.292 8.965 0.348 B30.2/SPRY domain|Concanavalin A-like lectin/glucanase domain|SPRY domain ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000119431.5|ENSG00000136875.8|ENSG00000136875.8|ENSG00000136875.8|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000136875.8|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000119431.5|ENSG00000176386.4|ENSG00000136875.8|ENSG00000148225.11|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000119321.4|ENSG00000176386.4|ENSG00000148225.11|ENSG00000176386.4|ENSG00000136875.8|ENSG00000119411.10|ENSG00000136875.8|ENSG00000136875.8|ENSG00000136875.8|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8|ENSG00000176386.4|ENSG00000136875.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1720 0.0313 0.1063 0.1450 0.1537 0.2029 0.1958 0.1683 0.2236 0.1505 0.0387 0.1158 0.1358 0.1465 0.2004 0.2033 0.2043 het 1470.72 109 9 116132334 . C T 1470.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.588;DP=109;Dels=0.00;FS=2.576;HRun=0;HaplotypeScore=0.9916;MQ=59.58;MQ0=0;MQRankSum=0.547;QD=13.49;ReadPosRankSum=0.270;VQSLOD=6.8698;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,55:109:99:1501,0,1450 9 116136198 116136198 C T exonic HDHD3 nonsynonymous SNV HDHD3:NM_001304511:exon2:c.G437A:p.G146E,HDHD3:NM_031219:exon2:c.G437A:p.G146E,HDHD3:NM_001304509:exon3:c.G437A:p.G146E,HDHD3:NM_001304510:exon3:c.G437A:p.G146E 0.59 0.49 0.7 0.47 0.62 0.72 0.6154 0.5305 0.6944 0.4621 0.5551 0.6195 0.5914 0.7028 0.6 0.55 0.63 0.53 0.48 rs1043836 COSM4163233 1(haematopoietic_and_lymphoid_tissue);1(pancreas);2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.022 0.016 N 1 0.090 P -1.935 0.002 N 1.2 0.374 T 1.88 0.005 N 0.02 0.004 -0.991 0.322 T 0.000 0.000 T . . . -3.305 0.001 0.001 0.840 0.145 0.061 0.119 N c -2.444 -2.460 1.000 0.747 0.646 0.442 0 -11.7 0.000 -1.328 0.028 -2.664 0.002 0.000 0.063 0.000 0.016 5.156 0.143 HAD-like domain ENSG00000119431.5|ENSG00000119431.5|ENSG00000119431.5|ENSG00000119431.5|ENSG00000119431.5|ENSG00000119431.5|ENSG00000119431.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Muscularis|Lung|Muscle_Skeletal|Whole_Blood 0.6206 0.5294 0.6993 0.6016 0.4587 0.5546 0.6275 0.6155 0.7002 0.5787 0.5383 0.6683 0.62 0.4620 0.5512 0.6166 0.5582 hom 8250.42 250 9 116136198 . C T 8250.42 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1116;MQ=59.50;MQ0=0;QD=33.00;VQSLOD=6.7809;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8249,659,0 9 116153900 116153900 A G exonic ALAD synonymous SNV ALAD:NM_001317745:exon3:c.T144C:p.Y48Y,ALAD:NM_000031:exon4:c.T168C:p.Y56Y,ALAD:NM_001003945:exon4:c.T255C:p.Y85Y 0.35 0.3 0.37 0.5 0.38 0.24 0.3493 0.3319 0.2974 0.4494 0.4309 0.3616 0.3529 0.2616 0.35 0.32 0.37 0.33 0.25 rs1139488 COSM4163235;COSM4163234;COSM150680 1(bone);1(stomach);1(liver);1(thyroid) Benign Porphobilinogen_synthase_deficiency RCV000390608.1 MedGen:OMIM:Orphanet:SNOMED_CT C0268328:612740:ORPHA100924:64081000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3468 0.3291 0.2983 0.2114 0.4537 0.4222 0.3683 0.3463 0.2597 0.3793 0.3142 0.3222 0.1854 0.4679 0.4308 0.4020 0.3908 het 514.22 51 9 116153900 . A G 514.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.756;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;MQRankSum=1.100;QD=10.08;ReadPosRankSum=-0.565;VQSLOD=6.6779;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,21:51:99:544,0,834 9 116346287 116346287 C T exonic RGS3 synonymous SNV RGS3:NM_001276260:exon2:c.C558T:p.Y186Y,RGS3:NM_001322215:exon2:c.C612T:p.Y204Y,RGS3:NM_001282922:exon3:c.C558T:p.Y186Y,RGS3:NM_001351526:exon4:c.C558T:p.Y186Y,RGS3:NM_130795:exon11:c.C1752T:p.Y584Y,RGS3:NM_001282923:exon18:c.C2265T:p.Y755Y,RGS3:NM_144488:exon21:c.C2595T:p.Y865Y 0.17 0.11 0.24 0.21 0.19 0.14 0.1710 0.1340 0.1946 0.2048 0.1055 0.1780 0.1648 0.1587 0.17 0.13 0.18 0.2 0.17 rs3810927 COSM150682;COSM150681 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1716 0.1319 0.1998 0.1893 0.2013 0.0925 0.1813 0.1824 0.1586 0.1497 0.1322 0.2148 0.1987 0.1955 0.1013 0.1625 0.1337 het 727.62 58 9 116346287 . C T 727.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.505;DP=58;Dels=0.00;FS=3.662;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.513;QD=12.55;ReadPosRankSum=-0.062;VQSLOD=6.4708;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,29:58:99:758,0,884 9 116356373 116356373 G C exonic RGS3 synonymous SNV RGS3:NM_144489:exon1:c.G174C:p.L58L 0.74 0.69 0.76 0.88 0.7 0.71 0.7242 0.6823 0.8542 0.8713 0.6947 0.6909 0.7244 0.7275 0.68 0.69 0.68 0.75 0.66 rs12350531 COSM455194 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7307 0.6812 0.8477 0.7364 0.8722 0.7012 0.6870 0.7233 0.7268 0.7003 0.6745 0.8405 0.76 0.8784 0.7031 0.6878 0.6762 hom 7909.02 240 9 116356373 . G C 7909.02 Mask AC=2;AF=1.00;AN=2;DP=240;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6247;MQ=59.40;MQ0=0;QD=32.95;VQSLOD=9.0587;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,240:240:99:7908,626,0 9 116356516 116356516 A G exonic RGS3 nonsynonymous SNV RGS3:NM_144489:exon1:c.A317G:p.Y106C 0.96 0.99 0.9 1. 0.88 0.98 0.9258 0.9785 0.9445 1 0.9354 0.8922 0.9222 0.9718 0.91 0.98 0.88 0.92 0.85 rs12341266 COSM4163249 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.186 P . . . 0.29 0.589 T 0.16 0.052 N 0.011 0.001 -0.927 0.446 T 0.000 0.000 T . . . -0.062 0.088 2.030 0.417 0.030 0.002 0.009 N c -1.577 -1.546 1.000 0.747 0.394 0.051 0 -1.2 0.090 0.234 0.176 -1.063 0.020 0.000 0.063 0.000 0.016 0.510 0.005 . . . 0.9255 0.9798 0.9424 0.9402 0.9999 0.9369 0.8853 0.9126 0.9725 0.9277 0.9766 0.9487 0.9404 1 0.9321 0.8896 0.9162 hom 3761.76 105 9 116356516 . A G 3761.76 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8857;MQ=59.53;MQ0=0;QD=35.83;VQSLOD=8.3660;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:105:99:3762,289,0 9 116356529 116356529 C G exonic RGS3 nonsynonymous SNV RGS3:NM_144489:exon1:c.C330G:p.C110W 0.84 0.8 0.81 0.99 0.74 0.84 0.7857 0.7884 0.8935 0.9929 0.7138 0.7352 0.7778 0.8313 0.75 0.78 0.73 0.87 0.69 rs10817493 COSM4163250 1(thyroid) . . . . . . . . . . . 0.675 0.045 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.182 P . . . 0.27 0.592 T -0.66 0.191 N 0.018 0.007 -0.987 0.333 T 0.000 0.000 T . . . -0.032 0.091 2.292 0.559 0.053 0.005 0.023 N c -1.391 -1.390 1.000 0.747 0.394 0.051 0 -3.7 0.041 0.809 0.266 -1.682 0.008 0.583 0.274 0.001 0.043 0.421 0.004 . ENSG00000157653.7|ENSG00000157653.7 Esophagus_Mucosa|Stomach 0.7901 0.7882 0.8884 0.7889 0.9918 0.7216 0.7321 0.7754 0.8310 0.7603 0.7799 0.8900 0.7947 0.9944 0.7191 0.7277 0.7213 hom 3167.71 95 9 116356529 . C G 3167.71 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.34;VQSLOD=13.6149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3201,253,0 9 116764283 116764283 C T exonic ZNF618 synonymous SNV ZNF618:NM_001318040:exon4:c.C345T:p.Y115Y,ZNF618:NM_001318041:exon4:c.C345T:p.Y115Y,ZNF618:NM_133374:exon4:c.C345T:p.Y115Y,ZNF618:NM_001318042:exon5:c.C441T:p.Y147Y 0.33 0.13 0.29 0.6 0.35 0.33 0.3641 0.1542 0.3720 0.6208 0.5228 0.3592 0.3207 0.3080 0.27 0.15 0.33 0.3 . rs4978561 COSM3763553;COSM3763555;COSM3763554 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3663 0.1518 0.3691 0.2382 0.6201 0.5182 0.3552 0.3222 0.3065 0.3466 0.1579 0.3604 0.2450 0.6020 0.5152 0.3862 0.4199 hom 6431.01 204 9 116764283 . C T 6431.01 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0408;MQ=59.25;MQ0=0;QD=31.52;VQSLOD=6.6417;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:6430,506,0 9 116770776 116770776 C T exonic ZNF618 synonymous SNV ZNF618:NM_001318040:exon8:c.C600T:p.V200V,ZNF618:NM_001318041:exon8:c.C600T:p.V200V,ZNF618:NM_133374:exon8:c.C600T:p.V200V,ZNF618:NM_001318042:exon9:c.C696T:p.V232V 0.3 0.062 0.26 0.6 0.34 0.32 0.3498 0.1092 0.3370 0.6075 0.5192 0.3523 0.3070 0.2916 0.26 0.11 0.33 0.3 . rs3748183 COSM3763556;COSM3763558;COSM3763557 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3519 0.1039 0.3394 0.2407 0.6089 0.5145 0.3469 0.3098 0.2892 0.3248 0.1080 0.3353 0.2450 0.5852 0.5120 0.3755 0.4097 hom 1058.01 34 9 116770776 . C T 1058.01 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=56.46;MQ0=0;QD=31.12;VQSLOD=6.2825;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:87.26:1091,87,0 9 116770785 116770785 G A exonic ZNF618 synonymous SNV ZNF618:NM_001318040:exon8:c.G609A:p.T203T,ZNF618:NM_001318041:exon8:c.G609A:p.T203T,ZNF618:NM_133374:exon8:c.G609A:p.T203T,ZNF618:NM_001318042:exon9:c.G705A:p.T235T 0.3 0.062 0.26 0.6 0.34 0.32 0.3503 0.1094 0.3372 0.6067 0.5197 0.3522 0.3081 0.2948 0.26 0.11 0.33 0.3 . rs3748182 COSM4406978;COSM4406976;COSM4406977 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3525 0.1038 0.3396 0.2408 0.6090 0.5144 0.3472 0.3091 0.2925 0.3244 0.1077 0.3337 0.2450 0.5852 0.5118 0.3749 0.4095 hom 1141.54 35 9 116770785 . G A 1141.54 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.57;MQ0=0;QD=32.62;VQSLOD=8.3967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:93.29:1175,93,0 9 116931099 116931099 G A exonic COL27A1 nonsynonymous SNV COL27A1:NM_032888:exon3:c.G1264A:p.A422T 0.38 0.3 0.32 0.51 0.43 0.32 0.4086 0.3300 0.3231 0.5568 0.4433 0.4318 0.4469 0.3303 0.4 0.33 0.43 0.49 0.46 rs2241671 COSM150683 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.102 B 0.0 0.063 B . . . 1 0.090 P -1.83 0.003 N -2.45 0.906 D 1.31 0.009 N 0.03 0.290 -1.020 0.236 T 0.000 0.000 T . . . -2.107 0.007 0.001 0.361 0.023 0.005 0.023 N c -2.351 -2.358 1.000 0.747 0.732 0.924 0 -8.53 0.008 -0.278 0.085 -2.236 0.004 0.000 0.063 0.000 0.016 1.123 0.016 . ENSG00000196739.10 Cells_Transformed_fibroblasts 0.4065 0.3257 0.3144 0.5494 0.5571 0.4439 0.4209 0.4254 0.3342 0.4033 0.3299 0.3486 0.5433 0.5639 0.4424 0.4203 0.3947 het 2319.58 225 9 116931099 . G A 2319.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.398;DP=225;DS;Dels=0.00;FS=1.056;HRun=0;HaplotypeScore=2.6906;MQ=59.04;MQ0=0;MQRankSum=1.203;QD=10.31;ReadPosRankSum=-0.620;VQSLOD=6.4910;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:126,98:225:99:2350,0,3278 9 116931666 116931666 A T exonic COL27A1 nonsynonymous SNV COL27A1:NM_032888:exon3:c.A1831T:p.I611F 0.29 0.37 0.28 0.12 0.42 0.25 0.3403 0.3802 0.2042 0.1317 0.3163 0.3969 0.3909 0.2970 0.39 0.38 0.39 0.38 0.45 rs2567705 COSM3763562 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.209 P -2.035 0.002 N -3.92 0.961 D 1.93 0.011 N 0.071 0.371 -1.008 0.276 T 0.000 0.000 T . . . 2.046 0.307 16.51 0.908 0.195 0.011 0.039 N c -1.008 -0.772 1.000 0.467 0.737 0.974 0 4.66 0.577 2.244 0.425 0.152 0.238 0.953 0.330 0.274 0.232 7.589 0.270 . ENSG00000196739.10 Cells_Transformed_fibroblasts 0.3315 0.3777 0.2116 0.5965 0.1303 0.3147 0.3835 0.3709 0.2843 0.3477 0.3817 0.2554 0.5728 0.1428 0.3190 0.3593 0.3200 het 1542.50 159 9 116931666 . A T 1542.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.987;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5588;MQ=59.12;MQ0=0;MQRankSum=2.665;QD=9.70;ReadPosRankSum=0.163;VQSLOD=5.0050;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,66:159:99:1572,0,2243 9 117002517 117002517 C T exonic COL27A1 synonymous SNV COL27A1:NM_032888:exon20:c.C2745T:p.I915I 0.32 0.15 0.48 0.19 0.38 0.49 0.3916 0.1829 0.5201 0.2135 0.4570 0.3958 0.4176 0.4875 0.32 0.19 0.38 0.25 0.16 rs2014134 COSM4407290 1(breast);1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3937 0.1800 0.5091 0.2273 0.2132 0.4603 0.3971 0.3858 0.4702 0.3343 0.1882 0.5251 0.2219 0.2062 0.4576 0.3921 0.3986 het 1704.45 130 9 117002517 . C T 1704.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.325;DP=130;Dels=0.00;FS=0.664;HRun=1;HaplotypeScore=4.4174;MQ=59.15;MQ0=0;MQRankSum=-1.613;QD=13.11;ReadPosRankSum=0.285;VQSLOD=4.8580;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,65:130:99:1734,0,1565 9 117044751 117044751 T C exonic COL27A1 synonymous SNV COL27A1:NM_032888:exon39:c.T3786C:p.Y1262Y 0.85 0.75 0.84 1. 0.78 0.93 0.8311 0.7705 0.8981 0.9998 0.7597 0.7946 0.8132 0.9090 0.78 0.76 0.8 0.85 0.63 rs2787330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8303 0.7620 0.8933 0.7897 0.9996 0.7530 0.7914 0.8030 0.9095 0.7909 0.7740 0.8950 0.76 0.9994 0.7573 0.7817 0.7767 het 144.43 20 9 117044751 . T C 144.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.504;DP=20;Dels=0.00;FS=5.161;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.736;QD=7.22;ReadPosRankSum=1.119;VQSLOD=4.4316;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,8:20:99:174,0,347 9 117051020 117051020 A G exonic COL27A1 synonymous SNV COL27A1:NM_032888:exon43:c.A4083G:p.G1361G 0.23 0.36 0.2 0.28 0.14 0.14 0.1580 0.3374 0.2044 0.2544 0.0797 0.1237 0.1462 0.1311 0.2 0.33 0.13 0.23 0.14 rs1687410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1560 0.3430 0.2001 0.1822 0.2529 0.0736 0.1232 0.1571 0.1306 0.1800 0.3333 0.1962 0.2067 0.2419 0.0645 0.1130 0.1319 het 543.93 46 9 117051020 . A G 543.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.769;DP=46;Dels=0.00;FS=6.439;HRun=3;HaplotypeScore=2.9929;MQ=58.54;MQ0=0;MQRankSum=-0.967;QD=11.82;ReadPosRankSum=-1.055;VQSLOD=4.6014;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,23:46:99:574,0,524 9 117063396 117063396 G A exonic COL27A1 synonymous SNV COL27A1:NM_032888:exon52:c.G4746A:p.S1582S 0.036 0.055 0.043 0.003 0.062 0.014 0.0566 0.0499 0.0459 0.0017 0.0625 0.0724 0.0625 0.0296 0.061 0.047 0.068 0.043 0.057 rs73656040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0533 0.0499 0.0476 0.0229 0.0013 0.0495 0.0736 0.0605 0.0279 0.0584 0.0520 0.0431 0.0265 0.0012 0.0612 0.0687 0.0662 het 813.76 56 9 117063396 . G A 813.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.980;DP=56;Dels=0.00;FS=2.515;HRun=0;HaplotypeScore=0.9469;MQ=58.92;MQ0=0;MQRankSum=1.208;QD=14.53;ReadPosRankSum=0.156;VQSLOD=6.0742;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,30:56:99:844,0,718 9 117122202 117122202 C T exonic AKNA synonymous SNV AKNA:NM_001317952:exon9:c.G1908A:p.E636E,AKNA:NM_001317950:exon10:c.G2265A:p.E755E,AKNA:NM_030767:exon10:c.G2265A:p.E755E 0.39 0.13 0.48 0.39 0.51 0.56 0.4867 0.1786 0.4499 0.3984 0.5026 0.5292 0.5319 0.5717 0.42 0.2 0.53 0.41 0.45 rs3748177 COSM150684 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4907 0.1694 0.4521 0.5895 0.3975 0.4946 0.5290 0.4958 0.5707 0.3979 0.1776 0.4652 0.6225 0.3913 0.4877 0.4930 0.4693 het 1262.25 102 9 117122202 . C T 1262.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.643;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5602;MQ=59.32;MQ0=0;MQRankSum=-1.545;QD=12.37;ReadPosRankSum=0.251;VQSLOD=5.9124;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,48:102:99:1292,0,1482 9 117124731 117124731 G A exonic AKNA nonsynonymous SNV AKNA:NM_001317952:exon7:c.C1514T:p.P505L,AKNA:NM_001317950:exon8:c.C1871T:p.P624L,AKNA:NM_030767:exon8:c.C1871T:p.P624L 0.38 0.12 0.48 0.39 0.51 0.55 0.5021 0.1829 0.4653 0.4127 0.5297 0.5433 0.5488 0.5810 0.41 0.19 0.53 0.41 0.41 rs3748176 COSM150685 1(stomach);1(pancreas);1(biliary_tract) . . . . . . . . . . . 0.078 0.339 T 0.618 0.380 P 0.138 0.318 B 0.443 0.126 N 1 0.090 P 1.5 0.380 L 1.47 0.320 T -1.11 0.299 N 0.045 0.097 -0.930 0.442 T 0.000 0.000 T . . . 0.664 0.157 8.587 0.626 0.068 0.083 0.141 N c -1.165 -1.230 1.000 0.747 0.732 0.924 0 -0.371 0.118 0.015 0.131 -0.425 0.059 0.009 0.180 0.000 0.016 4.467 0.110 . ENSG00000106948.12|ENSG00000106948.12|ENSG00000106948.12 Brain_Cerebellum|Esophagus_Muscularis|Whole_Blood 0.4906 0.1573 0.4522 0.5899 0.3968 0.4964 0.5299 0.4967 0.5698 0.3950 0.1689 0.4653 0.6225 0.3914 0.4874 0.4922 0.4682 het 450.50 30 9 117124731 . G A 450.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.764;DP=30;Dels=0.00;FS=3.312;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.143;QD=15.02;ReadPosRankSum=1.642;VQSLOD=5.8154;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,16:30:99:480,0,388 9 117166246 117166246 A G exonic WHRN nonsynonymous SNV WHRN:NM_001346890:exon6:c.T1295C:p.V432A,WHRN:NM_001083885:exon10:c.T1199C:p.V400A,WHRN:NM_001173425:exon10:c.T2345C:p.V782A,WHRN:NM_015404:exon10:c.T2348C:p.V783A 0.41 0.19 0.49 0.47 0.47 0.5 0.4786 0.2213 0.5062 0.4632 0.4760 0.5001 0.5330 0.5402 0.41 0.24 0.5 0.38 0.39 rs2274159 COSM4163263;COSM4163262 1(pancreas);1(liver);2(thyroid) Benign|Likely benign|Likely benign not_specified|Retinitis_pigmentosa-deafness_syndrome|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038890.3|RCV000278001.1|RCV000370224.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0271097:500004:ORPHA886:57838006|CN239439 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.019 0.273 N 1 0.090 P -1.735 0.003 N 4.13 0.071 T 0.72 0.026 N 0.015 0.006 -0.946 0.417 T 0.000 0.000 T . . . -0.784 0.041 0.046 0.391 0.027 0.001 0.008 N c -1.417 -1.296 1.000 0.473 0.706 0.609 0 1.09 0.194 0.944 0.284 -0.229 0.095 0.000 0.063 0.034 0.151 6.511 0.213 . ENSG00000095397.9|ENSG00000106948.12|ENSG00000106948.12 Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.4812 0.2122 0.4944 0.5957 0.4552 0.4675 0.4954 0.4830 0.5359 0.3977 0.2252 0.4868 0.6126 0.4254 0.4668 0.4669 0.4447 het 1630.69 192 9 117166246 . A G 1630.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.171;DP=192;DS;Dels=0.00;FS=1.228;HRun=0;HaplotypeScore=5.4898;MQ=59.46;MQ0=0;MQRankSum=0.984;QD=8.49;ReadPosRankSum=0.760;VQSLOD=4.8042;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:116,70:192:99:1661,0,3155 9 117166338 117166338 G C exonic WHRN nonsynonymous SNV WHRN:NM_001346890:exon6:c.C1203G:p.H401Q,WHRN:NM_001083885:exon10:c.C1107G:p.H369Q,WHRN:NM_001173425:exon10:c.C2253G:p.H751Q,WHRN:NM_015404:exon10:c.C2256G:p.H752Q 0.99 0.97 1. 1. 1. 1. 0.9980 0.9781 0.9988 1 1 0.9999 0.9989 1 0.99 0.98 1. 0.99 1. rs6478078 . . Benign\x2cBenign not_specified\x2cnot_specified RCV000154362.1\x2cRCV000038886.2 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9797 0.9991 1 1 1 1.0000 0.9993 1.0000 0.9945 0.9811 0.9988 1 1 1 0.9999 0.9969 hom 3588.89 109 9 117166338 . G C 3588.89 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=32.93;VQSLOD=9.4053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3589,280,0 9 117169033 117169033 A G exonic WHRN nonsynonymous SNV WHRN:NM_001346890:exon5:c.T785C:p.M262T,WHRN:NM_001083885:exon9:c.T689C:p.M230T,WHRN:NM_001173425:exon9:c.T1838C:p.M613T,WHRN:NM_015404:exon9:c.T1838C:p.M613T 0.48 0.36 0.52 0.5 0.51 0.57 0.5311 0.3712 0.5280 0.5075 0.5010 0.5455 0.5730 0.5963 0.49 0.39 0.55 0.46 0.31 rs942519 COSM3774351;COSM3774352 1(kidney);1(liver) Benign|Likely benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Retinitis_pigmentosa-deafness_syndrome RCV000038881.8|RCV000267996.1|RCV000316178.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239439|C0271097:500004:ORPHA886:57838006 . . . . . . 0.527 0.071 T 0.0 0.026 B 0.0 0.013 B 0.054 0.228 N 1 0.090 P -0.69 0.019 N 4.22 0.062 T 0.45 0.042 N 0.013 0.007 -0.986 0.337 T 0.000 0.000 T . . . -1.651 0.014 0.002 0.175 0.005 0.009 0.036 N c -1.530 -1.504 1.000 0.405 0.706 0.609 0 0.056 0.136 1.241 0.321 -1.169 0.017 0.005 0.169 0.001 0.043 0.056 0.000 PDZ domain ENSG00000095397.9|ENSG00000106948.12 Brain_Caudate_basal_ganglia|Esophagus_Muscularis 0.5292 0.3592 0.5202 0.6060 0.5008 0.4929 0.5425 0.5256 0.5928 0.4676 0.3619 0.5144 0.6225 0.4719 0.4834 0.5182 0.4847 het 645.91 46 9 117169033 . A G 645.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.033;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=1.198;QD=14.04;ReadPosRankSum=0.033;VQSLOD=6.8928;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,24:46:99:676,0,589 9 117186677 117186677 A G exonic WHRN synonymous SNV WHRN:NM_001346890:exon2:c.T300C:p.G100G,WHRN:NM_001083885:exon6:c.T204C:p.G68G,WHRN:NM_001173425:exon6:c.T1353C:p.G451G,WHRN:NM_015404:exon6:c.T1353C:p.G451G 0.83 0.78 0.87 0.94 0.73 0.86 0.7941 0.7758 0.8932 0.9403 0.6715 0.7543 0.8046 0.8689 0.76 0.78 0.75 0.79 0.65 rs4979387 COSM4007030;COSM4007029 1(urinary_tract);1(liver) Benign|Likely benign|Likely benign not_specified|Retinitis_pigmentosa-deafness_syndrome|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038868.7|RCV000298687.1|RCV000355875.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0271097:500004:ORPHA886:57838006|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7943 0.7764 0.8796 0.7792 0.9383 0.6803 0.7538 0.7772 0.8666 0.7463 0.7727 0.8505 0.7517 0.9345 0.6705 0.7237 0.7263 het 1380.20 106 9 117186677 . A G 1380.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.843;DP=106;Dels=0.00;FS=4.284;HRun=0;HaplotypeScore=1.7256;MQ=59.17;MQ0=0;MQRankSum=-0.234;QD=13.02;ReadPosRankSum=-1.401;VQSLOD=5.6088;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,51:106:99:1410,0,1317 9 117188566 117188566 C T exonic WHRN nonsynonymous SNV WHRN:NM_001173425:exon4:c.G1091A:p.R364H,WHRN:NM_015404:exon4:c.G1091A:p.R364H 0.98 0.92 0.99 1. 1. 1. 0.9942 0.9362 0.9972 1 1 0.9999 0.9945 0.9999 0.98 0.94 1. 0.97 0.95 rs10817610 . . Benign\x2cBenign not_specified\x2cnot_specified RCV000154365.1\x2cRCV000038858.2 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9956 0.9364 0.9976 1 1 1.0000 0.9999 0.9974 0.9999 0.9827 0.9397 0.9976 1 1 1 0.9999 0.9929 hom 3422.73 111 9 117188566 . C T 3422.73 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7046;MQ=59.55;MQ0=0;QD=30.84;VQSLOD=9.1922;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3422,277,0 9 117266965 117266965 C T exonic WHRN synonymous SNV WHRN:NM_001173425:exon1:c.G117A:p.V39V,WHRN:NM_015404:exon1:c.G117A:p.V39V 0.26 0.22 0.33 0.14 0.4 0.22 0.3339 0.2457 0.3242 0.1561 0.5083 0.3772 0.3661 0.2457 0.32 0.24 0.37 0.011 0.3 rs2297815 COSM3763567;COSM3763568 1(thyroid);5(large_intestine) Benign|Likely benign|Likely benign not_specified|Retinitis_pigmentosa-deafness_syndrome|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038862.6|RCV000306250.1|RCV000392568.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0271097:500004:ORPHA886:57838006|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3269 0.2374 0.3290 0.3597 0.1419 0.4955 0.3709 0.3549 0.2264 0.3390 0.2276 0.3377 0.3212 0.1275 0.5046 0.3845 0.4016 het 362.49 21 9 117266965 . C T 362.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.374;DP=21;Dels=0.00;FS=2.788;HRun=0;HaplotypeScore=0.9867;MQ=60.00;MQ0=0;MQRankSum=-1.207;QD=17.26;ReadPosRankSum=-1.129;VQSLOD=4.8930;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,15:21:99:392,0,169 9 117552885 117552885 T C exonic TNFSF15 synonymous SNV TNFSF15:NM_001204344:exon2:c.A426G:p.V142V,TNFSF15:NM_005118:exon4:c.A603G:p.V201V 0.71 0.91 0.7 0.51 0.68 0.69 0.7085 0.8927 0.7677 0.4745 0.7812 0.6979 0.7185 0.6862 0.75 0.88 0.69 0.8 0.7 rs3810936 COSM3763572;COSM3982713 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . Crohn's disease 1.21 . 21102463 rs3810936 1E-15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7084 0.8947 0.7553 0.7252 0.4691 0.7829 0.6951 0.7056 0.6874 0.7481 0.8869 0.7536 0.7152 0.4722 0.7672 0.6950 0.7162 het 1328.10 106 9 117552885 . T C 1328.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.647;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8808;MQ=59.21;MQ0=0;MQRankSum=0.191;QD=12.53;ReadPosRankSum=0.178;VQSLOD=6.7899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,47:106:99:1358,0,1656 9 117668142 117668142 C T exonic TNFSF8 synonymous SNV TNFSF8:NM_001244:exon3:c.G276A:p.R92R,TNFSF8:NM_001252290:exon3:c.G276A:p.R92R 0.33 0.2 0.5 0.24 0.4 0.4 0.3822 0.2403 0.4275 0.2608 0.4112 0.4070 0.3822 0.3919 0.35 0.25 0.41 0.29 0.32 rs3181195 COSM4163270 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3890 0.2360 0.4387 0.4384 0.2528 0.4050 0.4055 0.4067 0.3970 0.3534 0.2429 0.4351 0.4371 0.2600 0.3978 0.4086 0.3912 het 2300.15 187 9 117668142 . C T 2300.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.175;DP=187;Dels=0.00;FS=1.878;HRun=0;HaplotypeScore=6.2900;MQ=58.69;MQ0=0;MQRankSum=0.835;QD=12.30;ReadPosRankSum=-0.636;VQSLOD=5.1100;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,92:187:99:2330,0,2355 9 117792583 117792583 C G exonic TNC nonsynonymous SNV TNC:NM_002160:exon24:c.G6022C:p.E2008Q 0.67 0.73 0.68 0.56 0.72 0.63 0.6857 0.7247 0.6295 0.5557 0.7197 0.7146 0.6872 0.6379 0.71 0.73 0.7 0.69 0.71 rs13321 COSM5008368 1(skin);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.043 0.202 B 0.048 0.236 B 0.000 0.629 N 1.000 0.268 P -0.34 0.035 N -1.05 0.767 T 1.76 0.006 N 0.063 0.215 -1.062 0.112 T 0.000 0.000 T . . . 0.716 0.162 8.929 0.227 0.009 0.197 0.205 N c -0.146 -0.031 1.000 0.747 0.638 0.428 0 5.35 0.762 6.441 0.732 0.136 0.221 1.000 0.715 0.565 0.282 16.561 0.843 Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain|Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular\x2c subdomain 1;Fibronectin type III|Immunoglobulin-like fold . . 0.6823 0.7274 0.6394 0.6186 0.5523 0.7229 0.7178 0.6913 0.6402 0.7158 0.7330 0.6715 0.6391 0.5577 0.7257 0.7250 0.7098 hom 7769.11 226 9 117792583 . C G 7769.11 Mask AC=2;AF=1.00;AN=2;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5580;MQ=59.33;MQ0=0;QD=34.38;VQSLOD=7.8244;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7768,626,0 9 117797597 117797597 T C exonic TNC synonymous SNV TNC:NM_002160:exon22:c.A5673G:p.R1891R 0.15 0.067 0.15 0.13 0.28 0.17 0.2270 0.0880 0.1852 0.1655 0.2706 0.2761 0.2163 0.1592 0.21 0.092 0.27 0.13 0.16 rs12347433 COSM150686 1(bone);1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2272 0.0862 0.1932 0.1548 0.1660 0.2735 0.2800 0.2530 0.1610 0.2100 0.0912 0.2017 0.14 0.1708 0.2804 0.2675 0.2316 hom 3700.30 113 9 117797597 . T C 3700.30 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=32.75;VQSLOD=9.8385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3700,283,0 9 117808785 117808785 T A exonic TNC nonsynonymous SNV TNC:NM_002160:exon17:c.A5029T:p.I1677L 0.48 0.6 0.48 0.45 0.45 0.39 0.4385 0.5612 0.4191 0.4377 0.4762 0.4284 0.4504 0.4006 0.48 0.56 0.43 0.51 0.53 rs2104772 COSM3763573 2(large_intestine) . . . . . . . . . . . 0.417 0.099 T 0.004 0.112 B 0.032 0.208 B 0.000 0.629 D 0.488 0.810 P 1.78 0.463 L 0.64 0.529 T -1.14 0.295 N 0.21 0.426 -0.922 0.452 T 0.000 0.000 T . . . 2.155 0.320 17.21 0.696 0.088 0.680 0.334 D c -0.514 -0.364 0.997 0.353 0.554 0.246 0 3.42 0.381 0.850 0.272 1.061 0.807 0.689 0.283 1.000 0.888 8.629 0.329 Fibronectin type III|Immunoglobulin-like fold . . 0.4366 0.5614 0.4171 0.4152 0.4324 0.4734 0.4295 0.4513 0.4016 0.4715 0.5509 0.4163 0.4233 0.4408 0.4662 0.4356 0.4450 hom 6930.18 205 9 117808785 . T A 6930.18 Mask AC=2;AF=1.00;AN=2;DP=205;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8068;MQ=59.32;MQ0=0;QD=33.81;VQSLOD=8.8416;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6930,542,0 9 117848201 117848201 T C exonic TNC synonymous SNV TNC:NM_002160:exon3:c.A1809G:p.Q603Q 0.099 0.053 0.094 0.12 0.12 0.12 0.1059 0.0554 0.0767 0.1215 0.0916 0.1158 0.1276 0.1132 0.089 0.051 0.11 0.076 0.066 rs3827815 COSM150689 1(breast);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1020 0.0523 0.0828 0.1303 0.1241 0.0819 0.1097 0.1202 0.1099 0.0847 0.0503 0.0955 0.1225 0.1307 0.0734 0.1006 0.0918 hom 1871.88 61 9 117848201 . T C 1871.88 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=58.69;MQ0=0;QD=30.69;VQSLOD=8.8390;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1905,147,0 9 117853237 117853237 C T exonic TNC nonsynonymous SNV TNC:NM_002160:exon2:c.G61A:p.E21K 0.0008 . 0.0014 . 0.003 . 0.0009 0.0004 0.0017 0 0 0.0012 0.0022 0 0.0009 0.0005 0.0012 . 0.0082 rs141126037 . . . . . . . . . . . . . 0.261 0.268 T 0.06 0.217 B 0.016 0.166 B 0.086 0.206 N 1.000 0.090 N 0.405 0.124 N 1.43 0.330 T -0.74 0.216 N 0.081 0.230 -1.048 0.150 T 0.044 0.189 T 0.013 0.322 T 1.403 0.232 12.80 0.990 0.508 0.077 0.135 N c -0.654 -0.574 0.997 0.351 0.615 0.372 0 3.53 0.394 0.391 0.204 0.935 0.490 0.003 0.159 0.583 0.285 7.262 0.252 . . . 0.0010 0.0005 0.0018 0 0 4.498e-05 0.0016 0.0024 0 0.0012 0.0005 0.0060 0 0 0 0.0019 0 het 1218.56 102 9 117853237 . C T 1218.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.591;DP=102;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.1673;MQ=59.15;MQ0=1;MQRankSum=0.202;QD=11.95;ReadPosRankSum=-0.543;VQSLOD=3.9401;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,45:102:99:1249,0,1418 9 118163563 118163563 C T exonic DEC1 nonsynonymous SNV DEC1:NM_017418:exon7:c.C179T:p.A60V 0.76 0.91 0.6 0.85 0.65 0.71 0.6778 0.8861 0.6076 0.8521 0.6933 0.6276 0.6556 0.7017 0.7 0.88 0.62 0.74 0.65 rs2269700 COSM5021618 1(bone);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 0.41 0.571 T 3.2 0.001 N 0.009 0.001 -1.004 0.286 T 0.000 0.000 T . . . 0.269 0.120 5.393 0.360 0.023 0.000 0.003 N c -1.142 -1.244 1.000 0.424 0.487 0.133 0 -1.58 0.080 0.225 0.174 -0.252 0.090 0.000 0.063 0.000 0.016 0.09 0.000 . ENSG00000173077.10|ENSG00000041982.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.6712 0.8901 0.6132 0.5997 0.8524 0.6935 0.6245 0.6539 0.7023 0.7182 0.8773 0.5983 0.5695 0.8342 0.6806 0.6346 0.6741 hom 2825.71 95 9 118163563 . C T 2825.71 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=29.74;VQSLOD=8.7906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:95:99:2859,232,0 9 118949998 118949998 C T exonic PAPPA synonymous SNV PAPPA:NM_002581:exon2:c.C981T:p.C327C 0.12 0.019 0.15 0.094 0.26 0.11 0.1906 0.0514 0.1250 0.1009 0.2109 0.2449 0.1980 0.1434 0.18 0.055 0.24 0.098 0.27 rs12375498 COSM3763581 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1914 0.0497 0.1326 0.2200 0.0997 0.2206 0.2472 0.2011 0.1425 0.1816 0.0539 0.1599 0.2867 0.0931 0.2176 0.2534 0.2230 het 2119.76 155 9 118949998 . C T 2119.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.918;DP=155;Dels=0.00;FS=3.797;HRun=0;HaplotypeScore=5.5305;MQ=58.33;MQ0=0;MQRankSum=1.571;QD=13.68;ReadPosRankSum=0.973;VQSLOD=4.7537;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,81:155:99:2150,0,1893 9 119065043 119065043 C T exonic PAPPA synonymous SNV PAPPA:NM_002581:exon10:c.C2961T:p.P987P 0.032 0.0061 0.025 0.018 0.075 0.042 0.0624 0.0112 0.0219 0.0152 0.1429 0.0771 0.0772 0.0551 0.051 0.014 0.07 0.022 0.11 rs35565319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0632 0.0092 0.0265 0.0980 0.0147 0.1438 0.0725 0.0648 0.0537 0.0602 0.0116 0.0370 0.0828 0.0136 0.1535 0.0714 0.0784 het 1044.28 67 9 119065043 . C T 1044.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.069;DP=67;Dels=0.00;FS=6.175;HRun=0;HaplotypeScore=3.9946;MQ=58.53;MQ0=0;MQRankSum=-0.246;QD=15.59;ReadPosRankSum=1.343;VQSLOD=4.2213;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,37:67:99:1074,0,797 9 119106881 119106881 C A exonic PAPPA nonsynonymous SNV PAPPA:NM_002581:exon14:c.C3671A:p.S1224Y 0.57 0.26 0.64 0.7 0.69 0.69 0.6687 0.3240 0.6746 0.7130 0.7280 0.6992 0.7048 0.7092 0.58 0.34 0.7 0.62 0.64 rs7020782 . . . . . . . . . . . . . 0.019 0.501 D 0.023 0.321 B 0.029 0.274 B 0.692 0.102 N 1.000 0.182 P 1.5 0.380 L -1.02 0.763 T -2.69 0.574 D 0.066 0.347 -0.952 0.407 T 0.000 0.000 T . . . 2.266 0.334 17.94 0.976 0.341 0.312 0.241 N c -0.320 -0.251 0.995 0.337 0.554 0.246 0 2.54 0.295 0.765 0.260 0.935 0.490 0.674 0.281 0.977 0.480 3.550 0.073 Sushi/SCR/CCP domain . . 0.6767 0.3217 0.6768 0.6989 0.6983 0.7297 0.6996 0.6841 0.7112 0.5927 0.3365 0.6683 0.6755 0.6934 0.7383 0.6859 0.6687 hom 6372.23 206 9 119106881 . C A 6372.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.631;DP=206;DS;Dels=0.00;FS=3.738;HRun=0;HaplotypeScore=4.4217;MQ=59.78;MQ0=0;MQRankSum=-0.279;QD=30.93;ReadPosRankSum=-1.681;VQSLOD=3.9082;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,205:206:99:6346,499,0 9 119158814 119158814 T C exonic PAPPA synonymous SNV PAPPA:NM_002581:exon22:c.T4803C:p.D1601D 0.67 0.57 0.73 0.64 0.69 0.77 0.6967 0.5814 0.7449 0.6657 0.6777 0.7015 0.6773 0.7410 0.67 0.58 0.71 0.71 0.64 rs8456 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6993 0.5825 0.7404 0.6528 0.6657 0.6909 0.7032 0.6868 0.7403 0.6756 0.5939 0.7518 0.6821 0.6756 0.6772 0.7151 0.7240 hom 7688.84 246 9 119158814 . T C 7688.84 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7918;MQ=59.37;MQ0=0;QD=31.26;VQSLOD=7.2602;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7688,590,0 9 119413896 119413896 T C exonic ASTN2 nonsynonymous SNV ASTN2:NM_001184734:exon2:c.A139G:p.K47E,ASTN2:NM_001184735:exon2:c.A139G:p.K47E,ASTN2:NM_198186:exon2:c.A286G:p.K96E,ASTN2:NM_198187:exon2:c.A139G:p.K47E,ASTN2:NM_198188:exon2:c.A139G:p.K47E,ASTN2:NM_014010:exon16:c.A2830G:p.K944E . . . . . . 9.064e-05 0 0 0 0 0.0002 0 0 . . . . . rs779064081 . . . . . . . . . . . . . 0.129 0.367 T 0.426 0.421 B 0.058 0.333 B 0.000 0.629 D 0.998 0.442 D 1.1 0.281 L 1.41 0.334 T -0.62 0.320 N 0.248 0.360 -1.104 0.036 T 0.051 0.215 T 0.009 0.240 T 2.377 0.347 18.67 0.995 0.666 0.921 0.546 D c 0.101 0.262 1.000 0.517 0.706 0.609 0 5.48 0.806 5.350 0.656 1.056 0.757 1.000 0.715 1.000 0.888 15.233 0.730 Membrane attack complex component/perforin (MACPF) domain . . 5.286e-05 6.535e-05 0 0 0 0 0.0001 0 0 3.23e-05 0 0 0 0 0 0 0.0010 het 2104.18 159 9 119413896 . T C 2104.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.563;DP=159;Dels=0.00;FS=2.105;HRun=0;HaplotypeScore=6.1434;MQ=59.18;MQ0=0;MQRankSum=0.404;QD=13.23;ReadPosRankSum=0.128;VQSLOD=3.4926;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,81:159:99:2134,0,1993 9 119495697 119495697 T C exonic ASTN2 synonymous SNV ASTN2:NM_014010:exon13:c.A2349G:p.P783P 0.99 0.97 1. 1. 1. 1. 0.9985 0.9836 0.9992 1 1 1.0000 1 1 1. 0.99 1. 0.99 0.95 rs7863560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9833 0.9991 1 1 1 1.0000 0.9991 1 0.9949 0.9819 1 1 1 1 1 1 hom 5207.14 176 9 119495697 . T C 5207.14 Mask AC=2;AF=1.00;AN=2;DP=176;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.7317;MQ=58.80;MQ0=0;QD=29.59;VQSLOD=5.5258;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,174:176:99:5175,451,0 9 119739015 119739015 G A exonic ASTN2 synonymous SNV ASTN2:NM_014010:exon7:c.C1488T:p.H496H 0.14 0.27 0.079 0.082 0.11 0.087 0.1108 0.2438 0.0572 0.0905 0.1946 0.0997 0.1267 0.0857 0.15 0.25 0.11 0.11 0.11 rs10983437 COSM5437810;COSM5437811 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1106 0.2491 0.0635 0.0650 0.0933 0.1939 0.1024 0.1147 0.0856 0.1576 0.2427 0.0610 0.0795 0.0938 0.2013 0.1139 0.1245 het 1659.92 136 9 119739015 . G A 1659.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.594;DP=136;Dels=0.00;FS=0.654;HRun=0;HaplotypeScore=4.6765;MQ=59.39;MQ0=0;MQRankSum=0.979;QD=12.21;ReadPosRankSum=-2.150;VQSLOD=4.7507;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,67:136:99:1690,0,1809 9 119770480 119770480 C T exonic ASTN2 synonymous SNV ASTN2:NM_014010:exon6:c.G1329A:p.P443P 0.49 0.14 0.71 0.75 0.57 0.47 0.5488 0.1830 0.7378 0.7517 0.5487 0.5599 0.5419 0.4967 0.43 0.2 0.56 0.52 0.52 rs3761845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5583 0.1709 0.7123 0.4950 0.7470 0.5618 0.5625 0.5540 0.4867 0.4669 0.1859 0.6974 0.5 0.7326 0.5593 0.5627 0.5297 het 1787.75 140 9 119770480 . C T 1787.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.542;DP=140;Dels=0.00;FS=0.633;HRun=0;HaplotypeScore=3.7323;MQ=59.01;MQ0=0;MQRankSum=-0.190;QD=12.77;ReadPosRankSum=-0.603;VQSLOD=6.2424;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,66:140:99:1818,0,1791 9 120053776 120053776 T C exonic ASTN2 synonymous SNV ASTN2:NM_014010:exon2:c.A459G:p.A153A 0.96 0.89 0.98 0.99 0.99 0.99 0.9859 0.9071 0.9921 0.9909 0.9961 0.9938 0.9899 0.9931 0.97 0.91 0.99 0.84 0.98 rs7848630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9878 0.9090 0.9898 0.9981 0.9904 0.9945 0.9936 0.9914 0.9942 0.9689 0.9065 0.9916 1 0.9871 0.9951 0.9941 0.9868 hom 3316.92 116 9 120053776 . T C 3316.92 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6105;MQ=60.00;MQ0=0;QD=28.59;VQSLOD=7.0069;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3316,277,0 9 121971069 121971069 C T exonic BRINP1 nonsynonymous SNV BRINP1:NM_014618:exon7:c.G1073A:p.R358H 0.0078 0.0015 0.0086 . 0.03 0.001 0.0179 0.0060 0.0117 0.0009 0.0114 0.0272 0.0121 0.0042 0.02 0.0061 0.027 . 0.0082 rs17476783 . . . . . . . . . . . . . 0.058 0.377 T 0.004 0.112 B 0.001 0.040 B 0.000 0.629 D 1.000 0.548 D 1.41 0.357 L 2.35 0.162 T -2.96 0.617 D 0.119 0.132 -1.113 0.028 T 0.015 0.059 T . . . 4.519 0.605 24.3 0.999 0.966 0.920 0.544 D c 0.029 0.241 1.000 0.747 0.672 0.522 0 5.79 0.917 3.860 0.555 0.935 0.490 1.000 0.715 0.986 0.517 19.032 0.929 . . . 0.0167 0.0054 0.0121 0.0056 0.0008 0.0115 0.0278 0.0164 0.0038 0.0153 0.0048 0.0167 0.0066 0 0.0126 0.0243 0.0071 het 1551.33 108 9 121971069 . C T 1551.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.440;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=59.61;MQ0=0;MQRankSum=-1.233;QD=14.36;ReadPosRankSum=-0.734;VQSLOD=6.0859;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,57:108:99:1581,0,1367 9 122001000 122001000 G A exonic BRINP1 synonymous SNV BRINP1:NM_014618:exon5:c.C618T:p.S206S 0.44 0.17 0.47 0.67 0.45 0.54 0.4509 0.1941 0.5022 0.6645 0.4548 0.4322 0.5099 0.5355 0.35 0.2 0.43 0.34 0.39 rs2274157 COSM150694;COSM3763584 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4561 0.1824 0.4873 0.5427 0.6660 0.4588 0.4209 0.4803 0.5373 0.3731 0.1992 0.4808 0.5 0.6739 0.4607 0.4100 0.4158 hom 3048.61 108 9 122001000 . G A 3048.61 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.21;MQ0=0;QD=28.23;VQSLOD=7.9579;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3082,244,0 9 123170733 123170733 C G exonic CDK5RAP2 nonsynonymous SNV CDK5RAP2:NM_001272039:exon28:c.G3928C:p.V1310L,CDK5RAP2:NM_001011649:exon31:c.G4618C:p.V1540L,CDK5RAP2:NM_018249:exon31:c.G4618C:p.V1540L 0.75 0.56 0.84 0.86 0.76 0.83 0.7691 0.5846 0.8930 0.8287 0.7869 0.7527 0.7942 0.8248 0.7 0.58 0.75 0.7 0.73 rs4837768 COSM5003166 1(pancreas) Benign|other|Benign Primary_autosomal_recessive_microcephaly_3|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020841.1|RCV000145488.2|RCV000331745.1 MedGen:OMIM|MedGen|MedGen C1858108:604804|CN169374|CN239428 . . . . . . 0.752 0.036 T 0.041 0.244 B 0.016 0.246 B 0.982 0.081 N 1 0.090 P 0.49 0.133 N 1.52 0.307 T 0.64 0.096 N 0.029 0.051 -1.012 0.264 T 0.000 0.000 T . . . 1.267 0.217 12.10 0.849 0.150 0.490 0.281 N c -1.023 -0.935 1.000 0.407 0.719 0.830 0 -0.555 0.112 -0.072 0.114 -0.474 0.054 0.617 0.277 0.082 0.182 0.192 0.001 . . . 0.7774 0.5782 0.8835 0.7404 0.8319 0.7850 0.7529 0.7808 0.8244 0.7087 0.5829 0.8496 0.7285 0.8315 0.7851 0.7389 0.7618 het 1623.37 117 9 123170733 . C G 1623.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.047;DP=117;Dels=0.00;FS=0.761;HRun=0;HaplotypeScore=0.9159;MQ=59.68;MQ0=0;MQRankSum=-0.986;QD=13.87;ReadPosRankSum=-0.953;VQSLOD=5.5386;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,60:117:99:1653,0,1574 9 123291036 123291036 C G exonic CDK5RAP2 nonsynonymous SNV CDK5RAP2:NM_001011649:exon9:c.G865C:p.E289Q,CDK5RAP2:NM_001272039:exon9:c.G865C:p.E289Q,CDK5RAP2:NM_018249:exon9:c.G865C:p.E289Q 0.8 0.68 0.87 0.71 0.94 0.87 0.8772 0.6762 0.8601 0.7243 0.9297 0.9253 0.8877 0.8795 0.85 0.69 0.93 0.78 0.9 rs4836822 COSM4419826 1(haematopoietic_and_lymphoid_tissue) Benign|other|Benign Primary_autosomal_recessive_microcephaly_3|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020847.1|RCV000145507.2|RCV000407188.1 MedGen:OMIM|MedGen|MedGen C1858108:604804|CN169374|CN239428 . . . . . . 0.155 0.241 T 0.873 0.477 P 0.619 0.511 P 0.000 0.523 D 0.004 0.427 P 1.81 0.478 L 3.78 0.464 T -0.61 0.326 N 0.154 0.184 -1.097 0.044 T 0.000 0.000 T . . . 2.312 0.339 18.25 0.988 0.457 0.897 0.500 D c 0.110 0.112 1.000 0.517 0.646 0.442 0 3.97 0.451 2.644 0.460 0.852 0.362 1.000 0.715 0.893 0.376 12.220 0.536 . ENSG00000136861.13 Nerve_Tibial 0.8796 0.6710 0.8569 0.9239 0.7211 0.9285 0.9247 0.8982 0.8806 0.8453 0.6800 0.8699 0.9205 0.7265 0.9216 0.9291 0.9124 hom 2104.70 68 9 123291036 . C G 2104.70 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=30.95;VQSLOD=9.5508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2138,160,0 9 123583192 123583192 A G exonic PSMD5 synonymous SNV PSMD5:NM_001270427:exon8:c.T1053C:p.D351D,PSMD5:NM_005047:exon9:c.T1182C:p.D394D 0.49 0.16 0.66 0.47 0.59 0.73 0.5794 0.2148 0.7286 0.4752 0.5933 0.5848 0.5976 0.7318 0.47 0.23 0.59 0.41 0.53 rs1060817 COSM3763587;COSM3763586 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5906 0.2088 0.7144 0.6532 0.4733 0.5839 0.5842 0.5756 0.7308 0.4887 0.2248 0.7005 0.6755 0.5081 0.5845 0.5964 0.5786 hom 3408.03 109 9 123583192 . A G 3408.03 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;QD=31.27;VQSLOD=9.1827;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3408,262,0 9 123632045 123632045 A G exonic PHF19 synonymous SNV PHF19:NM_001009936:exon5:c.T543C:p.S181S 0.64 0.53 0.78 0.5 0.68 0.78 0.7157 0.6033 0.8589 0.5558 0.6766 0.7087 0.7010 0.8016 0.65 0.58 0.68 0.61 0.47 rs1056567 COSM455269 1(bone);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6924 0.5587 0.8392 0.7667 0.5053 0.6181 0.6734 0.6852 0.7940 0.6416 0.5755 0.8186 0.7567 0.5471 0.6277 0.6805 0.6512 hom 454.57 15 9 123632045 . A G 454.57 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.03;MQ0=0;QD=30.30;VQSLOD=8.4538;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:36.12:488,36,0 9 123671520 123671520 G A exonic TRAF1 synonymous SNV TRAF1:NM_001190947:exon5:c.C654T:p.P218P,TRAF1:NM_005658:exon7:c.C1020T:p.P340P,TRAF1:NM_001190945:exon8:c.C1020T:p.P340P 0.73 0.78 0.69 0.72 0.64 0.8 0.6877 0.7605 0.7208 0.7038 0.5724 0.6482 0.6938 0.8155 0.69 0.75 0.66 0.72 0.61 rs2239657 COSM1459713 1(thyroid) Benign not_specified RCV000455679.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6872 0.7617 0.7184 0.7352 0.7048 0.5646 0.6502 0.6738 0.8164 0.6701 0.7502 0.7368 0.79 0.7086 0.5768 0.6380 0.6245 het 4539.64 250 9 123671520 . G A 4539.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.592;DP=250;DS;Dels=0.00;FS=2.138;HRun=2;HaplotypeScore=10.3418;MQ=59.05;MQ0=0;MQRankSum=0.001;QD=18.16;ReadPosRankSum=0.246;VQSLOD=3.2995;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,126:250:99:3835,0,3628 9 123688217 123688217 G A exonic TRAF1 nonsynonymous SNV TRAF1:NM_005658:exon2:c.C137T:p.P46L,TRAF1:NM_001190945:exon3:c.C137T:p.P46L 0.034 0.0068 0.036 0.003 0.057 0.079 0.0528 0.0187 0.0549 0.0010 0.0157 0.0655 0.0410 0.0643 0.051 0.021 0.066 . 0.074 rs34119250 COSM4163287 1(pancreas);1(thyroid) . . . . . . . . . . . 0.918 0.023 T 0.0 0.026 B 0.0 0.013 B 0.453 0.125 U 1.000 0.209 N -1.39 0.006 N 1.69 0.270 T 1.4 0.008 N 0.042 0.022 -0.971 0.370 T 0.002 0.006 T . . . 0.948 0.185 10.36 0.799 0.125 0.001 0.007 N c -1.231 -1.115 1.000 0.747 0.539 0.216 0 0.251 0.147 0.269 0.182 -0.134 0.110 0.054 0.214 0.984 0.507 7.773 0.280 . ENSG00000056558.6|ENSG00000056558.6|ENSG00000056558.6|ENSG00000056558.6|ENSG00000056558.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Muscle_Skeletal|Nerve_Tibial|Stomach 0.0513 0.0168 0.0539 0.0646 0.0007 0.0152 0.0644 0.0575 0.0668 0.0356 0.0167 0.0525 0.0662 0.0006 0.0143 0.0544 0.0255 het 1365.61 106 9 123688217 . G A 1365.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.109;DP=106;Dels=0.00;FS=0.734;HRun=0;HaplotypeScore=2.5773;MQ=58.13;MQ0=0;MQRankSum=1.575;QD=12.88;ReadPosRankSum=1.068;VQSLOD=5.0795;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,56:106:99:1396,0,1239 9 123716103 123716103 T C exonic C5 synonymous SNV C5:NM_001317163:exon40:c.A4824G:p.K1608K,C5:NM_001735:exon40:c.A4806G:p.K1602K 0.052 0.071 0.039 0.002 0.061 0.08 0.0592 0.0673 0.0597 0.0013 0.0157 0.0683 0.0442 0.0654 0.069 0.067 0.07 0.033 0.082 rs41258306 . . Benign not_specified RCV000455927.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0569 0.0638 0.0595 0.0650 0.0009 0.0152 0.0682 0.0604 0.0680 0.0501 0.0638 0.0610 0.0662 0.0006 0.0143 0.0564 0.0275 het 1911.72 123 9 123716103 . T C 1911.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.726;DP=123;Dels=0.00;FS=5.751;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=-0.950;QD=15.54;ReadPosRankSum=0.203;VQSLOD=5.2311;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,73:123:99:1942,0,1349 9 123725926 123725926 T G exonic C5 nonsynonymous SNV C5:NM_001317163:exon34:c.A4329C:p.E1443D,C5:NM_001735:exon34:c.A4311C:p.E1437D 0.035 0.0083 0.037 0.002 0.06 0.08 0.0555 0.0206 0.0591 0.0008 0.0158 0.0689 0.0422 0.0662 0.054 0.023 0.07 . 0.074 rs17612 COSM4987099 1(soft_tissue) Benign not_specified RCV000454878.1 MedGen CN169374 . . . . . . 0.138 0.258 T 0.002 0.090 B 0.017 0.170 B 0.000 0.466 N 0.765 0.341 D 1.225 0.308 L 1.59 0.288 T -1.07 0.279 N 0.028 0.009 -1.018 0.243 T 0.004 0.011 T . . . 1.450 0.237 13.05 0.957 0.269 0.584 0.304 D c -0.893 -0.803 0.824 0.245 0.638 0.428 0 -2.86 0.053 -0.209 0.093 -0.301 0.081 0.958 0.332 0.601 0.289 5.742 0.172 Alpha-macroglobulin\x2c receptor-binding ENSG00000056558.6|ENSG00000056558.6|ENSG00000056558.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Nerve_Tibial 0.0536 0.0183 0.0574 0.0648 0.0007 0.0153 0.0680 0.0590 0.0675 0.0372 0.0184 0.0585 0.0662 0.0006 0.0143 0.0564 0.0255 het 1025.87 108 9 123725926 . T G 1025.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.333;DP=108;Dels=0.00;FS=0.777;HRun=0;HaplotypeScore=1.7866;MQ=58.49;MQ0=0;MQRankSum=1.493;QD=9.50;ReadPosRankSum=1.010;VQSLOD=5.5626;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,47:108:99:1056,0,1581 9 123769200 123769200 C T exonic C5 nonsynonymous SNV C5:NM_001317163:exon19:c.G2422A:p.V808I,C5:NM_001317164:exon19:c.G2404A:p.V802I,C5:NM_001735:exon19:c.G2404A:p.V802I 0.4 0.029 0.5 0.57 0.46 0.62 0.4586 0.08 0.5489 0.5539 0.4926 0.4420 0.5099 0.6347 0.32 0.09 0.45 0.37 0.43 rs17611 COSM4407021 1(bone);1(liver) Benign not_specified RCV000454843.1 MedGen CN169374 . . . . . . 0.185 0.215 T 0.127 0.254 B 0.03 0.205 B 0.065 0.219 N 0.945 0.266 P 0.99 0.251 L 1.75 0.262 T -0.61 0.181 N 0.046 0.026 -0.957 0.398 T 0.000 0.000 T . . . 2.410 0.351 18.88 0.954 0.264 0.123 0.170 N c -0.640 -0.535 0.217 0.183 0.554 0.246 0 1.06 0.193 0.385 0.203 0.077 0.185 0.711 0.285 0.995 0.604 5.629 0.167 Alpha-2-macroglobulin ENSG00000106804.6|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000119402.12|ENSG00000226752.3|ENSG00000119396.6|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000095261.9|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000056558.6|ENSG00000226752.3|ENSG00000056558.6|ENSG00000226752.3|ENSG00000106804.6|ENSG00000095261.9|ENSG00000226752.3|ENSG00000226752.3|ENSG00000119397.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4727 0.0718 0.5484 0.5174 0.5611 0.4921 0.4396 0.4704 0.6316 0.3602 0.0887 0.5107 0.5265 0.5882 0.5043 0.4422 0.4581 het 1184.45 92 9 123769200 . C T 1184.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.406;DP=92;Dels=0.00;FS=0.810;HRun=0;HaplotypeScore=4.8848;MQ=59.39;MQ0=0;MQRankSum=0.229;QD=12.87;ReadPosRankSum=0.119;VQSLOD=5.8410;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:39,53:92:99:1214,0,875 9 123780005 123780005 G A exonic C5 synonymous SNV C5:NM_001317163:exon13:c.C1650T:p.Y550Y,C5:NM_001317164:exon13:c.C1632T:p.Y544Y,C5:NM_001735:exon13:c.C1632T:p.Y544Y 0.41 0.029 0.5 0.57 0.46 0.62 0.4570 0.0793 0.5486 0.5537 0.4897 0.4405 0.5088 0.6303 0.32 0.089 0.45 0.37 0.41 rs25681 COSM1459729 1(bone);1(liver) Benign not_specified RCV000455480.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4711 0.0711 0.5486 0.5166 0.5600 0.4897 0.4380 0.4699 0.6276 0.3557 0.0887 0.5131 0.5298 0.5842 0.5020 0.4331 0.4599 het 1324.21 96 9 123780005 . G A 1324.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.896;DP=96;Dels=0.00;FS=1.674;HRun=0;HaplotypeScore=0.9469;MQ=59.52;MQ0=0;MQRankSum=-1.207;QD=13.79;ReadPosRankSum=-1.237;VQSLOD=6.1328;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,55:96:99:1354,0,1198 9 123782299 123782299 G A exonic C5 synonymous SNV C5:NM_001317163:exon12:c.C1479T:p.T493T,C5:NM_001317164:exon12:c.C1461T:p.T487T,C5:NM_001735:exon12:c.C1461T:p.T487T 0.089 0.13 0.053 0.037 0.098 0.11 0.0948 0.1421 0.0676 0.0365 0.0611 0.1073 0.0721 0.0786 0.12 0.14 0.11 0.054 0.13 rs2230214 . . Benign not_specified RCV000454431.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0904 0.1476 0.0675 0.0648 0.0354 0.0606 0.1087 0.0899 0.0814 0.1053 0.1444 0.0740 0.0662 0.0383 0.0622 0.1052 0.0625 het 821.64 81 9 123782299 . G A 821.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.095;DP=81;Dels=0.00;FS=0.882;HRun=0;HaplotypeScore=0.0000;MQ=59.00;MQ0=0;MQRankSum=-1.063;QD=10.14;ReadPosRankSum=0.863;VQSLOD=5.5125;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,35:81:99:852,0,1343 9 123783934 123783934 T C exonic C5 synonymous SNV C5:NM_001317163:exon11:c.A1173G:p.G391G,C5:NM_001317164:exon11:c.A1155G:p.G385G,C5:NM_001735:exon11:c.A1155G:p.G385G 0.24 0.44 0.1 0.24 0.17 0.14 0.1868 0.3940 0.1060 0.2459 0.1365 0.1849 0.1377 0.1127 0.25 0.38 0.18 0.27 0.2 rs10985126 COSM1178522 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid);1(large_intestine) Benign not_specified RCV000454855.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1755 0.4030 0.1055 0.1205 0.2432 0.1354 0.1850 0.1703 0.1139 0.2403 0.3930 0.1232 0.1126 0.2348 0.1434 0.1895 0.1568 het 1947.21 181 9 123783934 . T C 1947.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.819;DP=181;Dels=0.00;FS=15.228;HRun=2;HaplotypeScore=5.7522;MQ=58.69;MQ0=0;MQRankSum=0.001;QD=10.76;ReadPosRankSum=-1.256;VQSLOD=2.5338;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,77:181:99:1977,0,2730 9 123850770 123850770 G A exonic CNTRL nonsynonymous SNV CNTRL:NM_007018:exon1:c.G166A:p.V56I 0.64 0.26 0.74 0.78 0.7 0.88 0.6933 0.3234 0.8463 0.7866 0.6220 0.6741 0.7324 0.8740 0.57 0.34 0.69 0.54 0.61 rs10818503 . . . . . . . . . . . . . 0.176 0.223 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 1.95 0.526 M 1.8 0.253 T -0.14 0.096 N 0.038 0.029 -1.016 0.251 T 0.000 0.000 T . . . 0.976 0.187 10.52 0.967 0.301 0.082 0.140 N c -0.562 -0.489 1.000 0.473 0.507 0.198 0 2.62 0.302 0.847 0.272 1.038 0.658 0.396 0.259 0.952 0.428 4.302 0.103 Leucine-rich repeat domain\x2c L domain-like ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000056558.6|ENSG00000056558.6|ENSG00000226752.3|ENSG00000226752.3|ENSG00000095261.9|ENSG00000226752.3|ENSG00000056558.6|ENSG00000056558.6|ENSG00000226752.3|ENSG00000056558.6|ENSG00000226752.3|ENSG00000226752.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.7050 0.3233 0.8342 0.6954 0.7864 0.6201 0.6784 0.7033 0.8702 0.5777 0.3360 0.8038 0.6954 0.7954 0.6254 0.6636 0.6534 hom 2769.27 92 9 123850770 . G A 2769.27 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=30.10;VQSLOD=8.4670;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:92:99:2802,217,0 9 123860689 123860689 C T exonic CNTRL nonsynonymous SNV CNTRL:NM_007018:exon5:c.C647T:p.P216L 0.43 0.12 0.5 0.57 0.45 0.64 0.4586 0.1717 0.5405 0.5469 0.4631 0.4284 0.5011 0.6537 0.35 0.18 0.44 0.4 0.42 rs10818504 COSM4407606 1(liver) . . . . . . . . . . . 0.003 0.682 D 0.998 0.715 D 0.75 0.542 P . . . 0.018 0.399 P 0.225 0.096 N 0.56 0.546 T -5.2 0.837 D 0.081 0.100 -0.900 0.480 T 0.000 0.000 T . . . 4.404 0.590 24.1 0.997 0.784 0.823 0.413 D c 0.221 0.250 1.000 0.454 0.707 0.730 0 4.73 0.593 1.367 0.336 -0.328 0.075 0.991 0.370 0.985 0.512 13.889 0.631 Leucine-rich repeat domain\x2c L domain-like ENSG00000106804.6|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000119402.12|ENSG00000119396.6|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000095261.9|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000226752.3|ENSG00000106804.6|ENSG00000095261.9|ENSG00000226752.3|ENSG00000095261.9|ENSG00000226752.3|ENSG00000119397.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4698 0.1707 0.5399 0.5087 0.5535 0.4620 0.4263 0.4620 0.6485 0.3692 0.1810 0.5204 0.53 0.5814 0.4673 0.4167 0.4430 het 1268 88 9 123860689 . C T 1268 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.306;DP=88;Dels=0.00;FS=5.750;HRun=0;HaplotypeScore=1.4972;MQ=59.05;MQ0=0;MQRankSum=0.943;QD=14.41;ReadPosRankSum=-0.985;VQSLOD=5.4543;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,48:88:99:1298,0,1062 9 123917020 123917020 T A exonic CNTRL synonymous SNV CNTRL:NM_001330762:exon16:c.T2538A:p.V846V,CNTRL:NM_007018:exon25:c.T4194A:p.V1398V 0.43 0.12 0.5 0.57 0.45 0.64 0.4648 0.1721 0.5481 0.5467 0.4676 0.4357 0.5100 0.6568 0.35 0.18 0.44 0.4 0.36 rs3736855 COSM5445676;COSM5445675 1(breast);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4731 0.1664 0.5457 0.5098 0.5516 0.4654 0.4308 0.4651 0.6507 0.3719 0.1780 0.5263 0.5267 0.5756 0.4708 0.4232 0.4469 het 498.85 53 9 123917020 . T A 498.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.275;DP=53;Dels=0.00;FS=4.898;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.578;QD=9.41;ReadPosRankSum=0.450;VQSLOD=5.4727;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,20:53:99:529,0,887 9 124088908 124088908 C G exonic GSN nonsynonymous SNV GSN:NM_000177:exon12:c.C1688G:p.T563S,GSN:NM_001127662:exon12:c.C1535G:p.T512S,GSN:NM_001258029:exon12:c.C1586G:p.T529S,GSN:NM_001258030:exon12:c.C1559G:p.T520S,GSN:NM_198252:exon13:c.C1535G:p.T512S,GSN:NM_001127663:exon14:c.C1643G:p.T548S,GSN:NM_001127664:exon14:c.C1535G:p.T512S,GSN:NM_001127665:exon14:c.C1535G:p.T512S,GSN:NM_001127666:exon14:c.C1568G:p.T523S,GSN:NM_001127667:exon14:c.C1568G:p.T523S 0.024 0.026 0.02 . 0.031 0.04 0.0342 0.0427 0.0183 0.0002 0.0156 0.0376 0.0399 0.0486 0.032 0.032 0.031 0.022 0.016 rs77681311 . . Likely benign Amyloidosis RCV000297409.1 Human_Phenotype_Ontology:MedGen:Orphanet HP:0011034:C0002726:ORPHA69 . . . . . . 0.031 0.486 D 0.42 0.347 B 0.227 0.364 B 0.000 0.629 D 0.994 0.810 D 2.98 0.858 M 1.89 0.237 T -2.33 0.566 N 0.327 0.395 -1.095 0.047 T 0.034 0.148 T . . . 2.887 0.408 21.8 0.990 0.504 0.809 0.402 D c 0.098 0.163 1.000 0.747 0.731 0.878 0 4.22 0.490 2.406 0.440 0.024 0.147 0.966 0.337 0.980 0.490 9.532 0.382 ADF-H/Gelsolin-like domain;ADF-H/Gelsolin-like domain|Gelsolin-like domain . . 0.0283 0.0366 0.0150 0.0516 0.0002 0.0150 0.0319 0.0292 0.0445 0.0266 0.0354 0.0191 0.0265 0 0.0200 0.0263 0.0244 het 317.17 25 9 124088908 . C G 317.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.472;DP=25;Dels=0.00;FS=1.760;HRun=0;HaplotypeScore=0.0000;MQ=57.17;MQ0=0;MQRankSum=0.606;QD=12.69;ReadPosRankSum=1.819;VQSLOD=3.5954;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:347,0,368 9 124089692 124089692 C T exonic GSN nonsynonymous SNV GSN:NM_000177:exon13:c.C1847T:p.T616M,GSN:NM_001127662:exon13:c.C1694T:p.T565M,GSN:NM_001258029:exon13:c.C1745T:p.T582M,GSN:NM_001258030:exon13:c.C1718T:p.T573M,GSN:NM_198252:exon14:c.C1694T:p.T565M,GSN:NM_001127663:exon15:c.C1802T:p.T601M,GSN:NM_001127664:exon15:c.C1694T:p.T565M,GSN:NM_001127665:exon15:c.C1694T:p.T565M,GSN:NM_001127666:exon15:c.C1727T:p.T576M,GSN:NM_001127667:exon15:c.C1727T:p.T576M 0.056 0.14 0.03 . 0.031 0.04 0.0479 0.1552 0.0292 0.0003 0.0196 0.0405 0.0450 0.0512 0.065 0.13 0.034 0.065 0.033 rs76463933 . . Benign Amyloidosis RCV000322979.1 Human_Phenotype_Ontology:MedGen:Orphanet HP:0011034:C0002726:ORPHA69 . . . . . . 0.032 0.518 D 0.798 0.546 P 0.404 0.428 B 0.049 0.232 N 1 0.090 N 1.7 0.440 L 0.48 0.560 T -1.16 0.307 N 0.017 0.137 -1.117 0.025 T 0.001 0.005 T . . . 4.014 0.539 23.6 0.997 0.792 0.258 0.226 N c -0.330 -0.379 1.000 0.432 0.706 0.609 0 2.16 0.265 0.693 0.250 -0.964 0.024 0.077 0.221 0.547 0.279 4.970 0.134 ADF-H/Gelsolin-like domain;ADF-H/Gelsolin-like domain|Gelsolin-like domain . . 0.0346 0.1366 0.0192 0.0503 0.0004 0.0151 0.0310 0.0327 0.0440 0.0532 0.1280 0.0263 0.0265 0.0006 0.0200 0.0265 0.0316 het 404.58 18 9 124089692 . C T 404.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.185;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.355;QD=22.48;ReadPosRankSum=-2.369;VQSLOD=11.4814;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,15:18:46.36:435,0,46 9 124103523 124103523 A G exonic STOM nonsynonymous SNV STOM:NM_198194:exon3:c.T329C:p.M110T,STOM:NM_004099:exon7:c.T824C:p.M275T 0.019 0.0045 0.022 . 0.037 0.04 0.0288 0.0086 0.0147 0.0001 0.0132 0.0358 0.0352 0.0438 0.029 0.0091 0.04 0.011 0.033 rs41273438 . . . . . . . . . . . . . 0.033 0.481 D 0.115 0.249 B 0.322 0.400 B 0.000 0.843 D 1.000 0.588 D 1.73 0.448 L -6.19 0.996 D -2.61 0.666 D 0.296 0.356 0.507 0.907 D 0.870 0.957 D . . . 3.982 0.536 23.6 0.985 0.416 0.967 0.704 D c 0.172 0.305 1.000 0.747 0.706 0.609 0 4.86 0.625 9.045 0.932 1.088 0.866 1.000 0.715 0.967 0.454 13.796 0.625 Band 7 domain . . 0.0293 0.0081 0.0151 0.0541 0.0002 0.0151 0.0377 0.0308 0.0437 0.0225 0.0084 0.0191 0.0331 0 0.0212 0.0332 0.0255 het 3920.73 250 9 124103523 . A G 3920.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.674;DP=250;DS;Dels=0.00;FS=2.912;HRun=0;HaplotypeScore=3.7812;MQ=59.17;MQ0=0;MQRankSum=-0.537;QD=15.68;ReadPosRankSum=-0.805;VQSLOD=4.8552;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:117,133:250:99:3312,0,3087 9 124855211 124855211 C T exonic TTLL11 nonsynonymous SNV TTLL11:NM_001139442:exon1:c.G487A:p.A163T,TTLL11:NM_194252:exon1:c.G487A:p.A163T 0.25 0.37 0.33 0.065 0.3 0.16 0.3747 0.4668 0.4346 0.1284 0.5265 0.3942 0.3864 0.2596 0.27 0.33 0.25 0.26 0.17 rs61742319 COSM3750147;COSM3750146 1(thyroid);12(large_intestine) . . . . . . . . . . . 0.346 0.124 T 0.004 0.112 B 0.005 0.104 B 0.000 0.003 U 1.000 0.090 P 0.895 0.225 L 3.47 0.062 T -0.42 0.142 N 0.031 0.014 -0.901 0.479 T 0.000 0.000 T . . . 0.775 0.168 9.308 0.957 0.271 0.009 0.034 N c -1.190 -1.174 1.000 0.747 0.652 0.477 0 -3.49 0.044 0.432 0.210 -0.553 0.047 0.009 0.180 0.001 0.043 5.088 0.139 . ENSG00000175764.10|ENSG00000261534.1|ENSG00000261534.1|ENSG00000175764.10|ENSG00000261534.1|ENSG00000261534.1|ENSG00000261534.1|ENSG00000175764.10|ENSG00000261534.1|ENSG00000175764.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Lung|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Spleen|Thyroid 0.2704 0.3921 0.3137 0.2794 0.0725 0.3645 0.2869 0.2848 0.1849 0.2999 0.3714 0.3249 0.2450 0.0667 0.3482 0.2736 0.2756 hom 492.34 17 9 124855211 . C T 492.34 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.50;MQ0=0;QD=28.96;VQSLOD=7.5783;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.13:525,42,0 9 124914613 124914613 C T exonic NDUFA8 synonymous SNV NDUFA8:NM_001318195:exon2:c.G126A:p.E42E,NDUFA8:NM_014222:exon2:c.G126A:p.E42E 0.34 0.091 0.37 0.2 0.61 0.51 0.5034 0.1414 0.4279 0.2324 0.5491 0.5994 0.5011 0.5196 0.46 0.16 0.61 0.29 0.56 rs4679 COSM1459793 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5077 0.1368 0.4325 0.5623 0.2346 0.5481 0.6051 0.5266 0.5236 0.4362 0.1542 0.4403 0.5497 0.2426 0.5501 0.5884 0.4969 hom 2318.02 75 9 124914613 . C T 2318.02 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5004;MQ=58.82;MQ0=0;QD=30.91;VQSLOD=8.7655;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2351,187,0 9 125133479 125133479 T C exonic PTGS1 nonsynonymous SNV PTGS1:NM_000962:exon2:c.T22C:p.W8R,PTGS1:NM_001271164:exon2:c.T22C:p.W8R,PTGS1:NM_080591:exon2:c.T22C:p.W8R 0.94 0.99 0.93 0.99 0.94 0.82 0.9257 0.9876 0.9300 0.9919 0.9243 0.9339 0.9338 0.8163 0.95 0.98 0.93 0.9 0.86 rs1236913 . . . . . . . . . . . . . 0.5 0.912 T 0.0 0.026 B 0.0 0.013 B 0.162 0.030 N 1 0.191 P -1.085 0.010 N 0.59 0.540 T 0.46 0.031 N 0.062 0.318 -0.968 0.377 T 0.000 0.000 T . . . -0.638 0.048 0.101 0.439 0.033 0.003 0.016 N c -1.445 -1.475 1.000 0.747 0.564 0.319 0 0.385 0.154 -0.893 0.042 -2.004 0.005 0.000 0.063 0.002 0.062 6.506 0.213 EGF-like domain . . 0.9261 0.9891 0.9321 0.9635 0.9938 0.9248 0.9316 0.9390 0.8174 0.9449 0.9846 0.9356 0.9437 0.9932 0.9187 0.9246 0.9243 hom 2525.32 72 9 125133479 . T C 2525.32 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;QD=35.07;VQSLOD=10.0301;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2558,205,0 9 125315557 125315557 T C exonic OR1N2 nonsynonymous SNV OR1N2:NM_001004457:exon1:c.T109C:p.W37R 0.56 0.59 0.59 0.66 0.48 0.46 0.5173 0.5794 0.6166 0.6681 0.4590 0.4867 0.5341 0.4756 0.52 0.57 0.49 0.55 0.55 rs1831370 COSM150700 1(stomach);1(haematopoietic_and_lymphoid_tissue);3(prostate);1(thyroid) . . . . . . . . . . . 0.324 0.134 T 0.0 0.026 B 0.0 0.013 B 0.590 0.056 N 1 0.090 P -0.945 0.013 N 5.39 0.011 T 1.38 0.009 N 0.012 0.001 -1.075 0.084 T 0.000 0.000 T . . . -1.100 0.028 0.010 0.361 0.023 0.009 0.036 N c -1.651 -1.640 0.043 0.146 0.487 0.133 0 -2.62 0.058 -4.209 0.003 -1.193 0.016 0.000 0.063 0.025 0.141 0.670 0.008 . . . 0.5190 0.5809 0.6021 0.5646 0.6660 0.4551 0.4823 0.5212 0.4792 0.5146 0.5784 0.6160 0.52 0.6741 0.4670 0.4698 0.4519 het 1299.86 109 9 125315557 . T C 1299.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.435;DP=109;Dels=0.00;FS=1.582;HRun=0;HaplotypeScore=4.7157;MQ=59.58;MQ0=0;MQRankSum=0.374;QD=11.93;ReadPosRankSum=0.775;VQSLOD=5.7096;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,50:109:99:1330,0,1593 9 125315778 125315778 G C exonic OR1N2 synonymous SNV OR1N2:NM_001004457:exon1:c.G330C:p.S110S 0.56 0.6 0.59 0.67 0.48 0.46 0.5174 0.5796 0.6165 0.6710 0.4592 0.4866 0.5352 0.4756 0.52 0.57 0.49 0.55 0.57 rs1411271 COSM4163299 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5191 0.5810 0.6017 0.5646 0.6683 0.4552 0.4824 0.5214 0.4791 0.5151 0.5791 0.6136 0.52 0.6768 0.4668 0.4701 0.4549 het 3201.31 248 9 125315778 . G C 3201.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.118;DP=248;DS;Dels=0.00;FS=4.368;HRun=1;HaplotypeScore=5.4717;MQ=59.29;MQ0=0;MQRankSum=-1.753;QD=12.91;ReadPosRankSum=-0.037;VQSLOD=4.1867;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,113:248:99:3231,0,3690 9 125316033 125316033 T C exonic OR1N2 synonymous SNV OR1N2:NM_001004457:exon1:c.T585C:p.Y195Y 0.56 0.6 0.59 0.66 0.48 0.46 0.5170 0.5797 0.6162 0.6672 0.4590 0.4864 0.5352 0.4753 0.52 0.57 0.49 0.55 0.57 rs1341042 COSM4418840 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5187 0.5812 0.6017 0.5647 0.6654 0.4548 0.4820 0.5210 0.4789 0.5113 0.5748 0.6117 0.5168 0.6667 0.4662 0.4671 0.4483 het 2505.85 212 9 125316033 . T C 2505.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.798;DP=212;Dels=0.00;FS=4.918;HRun=0;HaplotypeScore=10.3555;MQ=58.88;MQ0=0;MQRankSum=0.531;QD=11.82;ReadPosRankSum=-0.233;VQSLOD=4.1582;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,92:212:99:2536,0,3359 9 125316042 125316042 T C exonic OR1N2 synonymous SNV OR1N2:NM_001004457:exon1:c.T594C:p.P198P 0.56 0.6 0.59 0.66 0.48 0.46 0.5170 0.5796 0.6161 0.6671 0.4592 0.4864 0.5352 0.4753 0.52 0.57 0.49 0.55 0.57 rs1341043 COSM4419645 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5188 0.5811 0.6017 0.5647 0.6655 0.4550 0.4821 0.5212 0.4789 0.5113 0.5747 0.6104 0.5203 0.6665 0.4659 0.4671 0.4483 het 2894.13 241 9 125316042 . T C 2894.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.447;DP=241;Dels=0.00;FS=3.643;HRun=2;HaplotypeScore=12.2100;MQ=58.64;MQ0=0;MQRankSum=0.509;QD=12.01;ReadPosRankSum=-0.274;VQSLOD=3.6031;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:134,107:241:99:2924,0,3828 9 125316179 125316179 T G exonic OR1N2 nonsynonymous SNV OR1N2:NM_001004457:exon1:c.T731G:p.V244G 0.84 0.86 0.78 1. 0.71 0.81 0.7548 0.8481 0.8088 0.9983 0.6775 0.6965 0.7599 0.7968 0.75 0.84 0.7 0.87 0.82 rs1341044 . . . . . . . . . . . . . 0.171 0.227 T 0.0 0.026 B 0.0 0.013 B 0.094 0.025 N 1 0.090 P -1.82 0.003 N 8.79 0.001 T 1.28 0.010 N 0.022 0.006 -0.930 0.442 T 0.000 0.000 T . . . 1.214 0.211 11.82 0.936 0.228 0.003 0.015 N c -1.181 -1.047 0.075 0.157 0.487 0.133 0 3.65 0.408 -0.587 0.058 0.056 0.163 0.000 0.063 0.004 0.083 5.998 0.186 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7552 0.8529 0.8002 0.7785 0.9979 0.6732 0.6941 0.7371 0.7982 0.7461 0.8514 0.8141 0.7285 0.9963 0.6866 0.6726 0.6772 het 2770.46 223 9 125316179 . T G 2770.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.011;DP=223;DS;Dels=0.00;FS=0.509;HRun=1;HaplotypeScore=5.3901;MQ=59.39;MQ0=0;MQRankSum=-0.536;QD=12.42;ReadPosRankSum=-1.027;VQSLOD=5.1446;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,103:223:99:2800,0,3218 9 125316350 125316350 C T exonic OR1N2 nonsynonymous SNV OR1N2:NM_001004457:exon1:c.C902T:p.T301M 0.59 0.64 0.6 0.67 0.55 0.5 0.5622 0.6232 0.6348 0.6734 0.5775 0.5384 0.5738 0.5042 0.56 0.62 0.53 0.64 0.65 rs1411272 COSM150701 1(stomach);1(pancreas);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.003 0.102 B 0.001 0.040 B 0.000 0.629 N 1.000 0.196 P -0.1 0.047 N 1.26 0.363 T 4.31 0.000 N 0.072 0.061 -0.928 0.444 T 0.000 0.000 T . . . 1.826 0.280 15.14 0.043 0.000 0.012 0.043 N c -0.807 -0.552 0.041 0.145 0.487 0.133 0 4.56 0.555 4.160 0.577 0.073 0.181 0.740 0.288 0.176 0.212 9.473 0.378 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5650 0.6256 0.6236 0.6146 0.6717 0.5748 0.5320 0.5625 0.5082 0.5680 0.6228 0.6360 0.5464 0.6842 0.5845 0.5197 0.5163 het 1076.13 120 9 125316350 . C T 1076.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.611;DP=120;Dels=0.00;FS=0.702;HRun=0;HaplotypeScore=0.9995;MQ=58.79;MQ0=0;MQRankSum=0.270;QD=8.97;ReadPosRankSum=-1.506;VQSLOD=5.9288;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,44:120:99:1106,0,1967 9 125330125 125330125 C G exonic OR1L8 nonsynonymous SNV OR1L8:NM_001004454:exon1:c.G632C:p.R211P 0.72 0.72 0.65 0.98 0.61 0.62 0.6458 0.6971 0.6903 0.9873 0.6377 0.5939 0.6504 0.6167 0.64 0.7 0.6 0.83 0.75 rs10739614 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.454 N 1 0.090 P -4.345 0.000 N 2.04 0.208 T 8.02 0.000 N 0.092 0.097 -0.962 0.389 T 0.000 0.000 T . . . -0.068 0.087 1.982 0.084 0.001 0.001 0.005 N c -2.172 -1.918 0.354 0.197 0.554 0.246 0 3.6 0.402 -0.444 0.069 -0.261 0.088 0.000 0.063 0.004 0.083 10.799 0.455 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6489 0.6987 0.6824 0.6569 0.9857 0.6314 0.5914 0.6355 0.6187 0.6466 0.6995 0.6945 0.6159 0.9803 0.6441 0.5826 0.5804 het 674.65 54 9 125330125 . C G 674.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.394;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=0.104;QD=12.49;ReadPosRankSum=-0.312;VQSLOD=6.0705;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,25:54:99:705,0,767 9 125330678 125330678 T G exonic OR1L8 nonsynonymous SNV OR1L8:NM_001004454:exon1:c.A79C:p.T27P 0.67 0.6 0.62 0.98 0.55 0.58 0.5965 0.5913 0.6684 0.9820 0.5197 0.5443 0.6084 0.5881 0.57 0.59 0.56 0.67 0.67 rs10985704 . . . . . . . . . . . . . 0.555 0.065 T 0.0 0.026 B 0.0 0.013 B 0.065 0.219 N 1.000 0.090 P -1.675 0.004 N 7.42 0.004 T 1.84 0.005 N 0.06 0.049 -0.877 0.500 T 0.000 0.000 T . . . 1.127 0.203 11.36 0.931 0.221 0.002 0.011 N c -1.103 -0.927 0.000 0.062 0.554 0.246 0 3.48 0.388 -0.158 0.100 0.120 0.210 0.000 0.063 0.093 0.186 12.513 0.552 . . . 0.5991 0.5894 0.6563 0.6088 0.9809 0.5121 0.5437 0.5924 0.5893 0.5766 0.5929 0.6699 0.5833 0.9741 0.5261 0.5345 0.5184 het 1385.87 95 9 125330678 . T G 1385.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.991;DP=95;Dels=0.00;FS=0.788;HRun=1;HaplotypeScore=0.6651;MQ=59.30;MQ0=0;MQRankSum=-2.374;QD=14.59;ReadPosRankSum=0.826;VQSLOD=5.0208;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,52:95:99:1416,0,1086 9 125330739 125330739 G A exonic OR1L8 synonymous SNV OR1L8:NM_001004454:exon1:c.C18T:p.H6H 0.63 0.48 0.61 0.98 0.55 0.58 0.5903 0.4937 0.6630 0.9819 0.5196 0.5439 0.6072 0.6109 0.54 0.5 0.56 0.61 0.65 rs1999182 COSM4163302;COSM4163301 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5953 0.4906 0.6556 0.6139 0.9809 0.5144 0.5456 0.5907 0.5948 0.5472 0.4925 0.6627 0.5828 0.9746 0.5261 0.5332 0.5072 het 907.10 76 9 125330739 . G A 907.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.043;DP=76;Dels=0.00;FS=4.789;HRun=0;HaplotypeScore=1.9978;MQ=59.70;MQ0=0;MQRankSum=0.203;QD=11.94;ReadPosRankSum=-0.182;VQSLOD=6.1412;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,36:76:99:937,0,1064 9 125377087 125377087 A G exonic OR1Q1 nonsynonymous SNV OR1Q1:NM_012364:exon1:c.A71G:p.Q24R 0.82 0.63 0.86 0.94 0.81 0.95 0.8394 0.6666 0.8993 0.9452 0.8870 0.8162 0.8381 0.9256 0.77 0.67 0.82 0.79 0.84 rs972925 . . . . . . . . . . . . . 0.07 0.353 T 0.002 0.090 B 0.007 0.121 B 0.007 0.316 N 1 0.090 P 1.28 0.323 L 6.33 0.006 T -2.44 0.534 N 0.045 0.025 -0.981 0.347 T 0.000 0.000 T . . . 1.630 0.257 14.02 0.955 0.265 0.236 0.219 N c -0.855 -0.825 0.000 0.062 0.487 0.133 0 2.94 0.330 3.870 0.555 -0.164 0.107 0.540 0.270 0.000 0.016 9.546 0.383 . . . 0.8461 0.6654 0.8912 0.7877 0.9418 0.8853 0.8185 0.8321 0.9264 0.7985 0.6732 0.8604 0.7980 0.9431 0.8927 0.8280 0.8306 hom 7063.72 238 9 125377087 . A G 7063.72 Mask AC=2;AF=1.00;AN=2;DP=238;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=29.68;VQSLOD=9.1436;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,238:238:99:7062,584,0 9 125377505 125377505 A G exonic OR1Q1 nonsynonymous SNV OR1Q1:NM_012364:exon1:c.A489G:p.I163M 0.88 0.71 0.93 0.95 0.92 0.97 0.9197 0.7448 0.9578 0.9508 0.9363 0.9259 0.9306 0.9547 0.87 0.75 0.93 0.87 0.89 rs1329957 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.454 N 1 0.090 P -0.25 0.038 N 8.72 0.001 T 2.3 0.003 N 0.042 0.022 -0.923 0.452 T 0.000 0.000 T . . . -1.570 0.015 0.002 0.537 0.049 0.007 0.030 N c -1.067 -0.901 0.014 0.125 0.487 0.133 0 5.57 0.840 -0.330 0.079 0.129 0.215 0.000 0.063 0.007 0.100 7.527 0.267 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9248 0.7442 0.9548 0.9217 0.9468 0.9360 0.9265 0.9235 0.9564 0.8811 0.7501 0.9510 0.9238 0.9475 0.9436 0.9283 0.9151 hom 6555.01 189 9 125377505 . A G 6555.01 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.0464;MQ=59.27;MQ0=0;QD=34.68;VQSLOD=7.0919;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:6554,512,0 9 125390874 125390874 A C exonic OR1B1 nonsynonymous SNV OR1B1:NM_001004450:exon1:c.T941G:p.V314G 0.82 0.64 0.85 0.95 0.8 0.94 0.8287 0.6713 0.8972 0.9531 0.8750 0.7988 0.8348 0.9175 0.76 0.68 0.81 0.78 0.82 rs1556189 . . . . . . . . . . . . . 0.407 0.102 T 0.0 0.026 B 0.0 0.013 B 0.364 0.136 N 1 0.090 P 0.145 0.088 N 1.25 0.365 T 0.36 0.037 N 0.018 0.003 -1.066 0.104 T 0.000 0.000 T . . . -0.672 0.046 0.084 0.743 0.103 0.003 0.015 N c -1.308 -1.319 0.000 0.054 0.487 0.133 0 -0.41 0.117 -0.551 0.061 0.012 0.140 0.000 0.063 0.005 0.090 4.126 0.095 . . . 0.8360 0.6696 0.8848 0.7776 0.9489 0.8723 0.8028 0.8133 0.9179 0.7878 0.6752 0.8636 0.7914 0.9482 0.8771 0.8091 0.8139 hom 2765.38 85 9 125390874 . A C 2765.38 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=32.53;VQSLOD=9.4542;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,84:85:99:2798,217,0 9 125391026 125391026 A C exonic OR1B1 nonsynonymous SNV OR1B1:NM_001004450:exon1:c.T789G:p.C263W 0.75 0.44 0.77 0.94 0.79 0.93 0.8046 0.5116 0.8188 0.9356 0.8736 0.7977 0.8157 0.9101 0.71 0.53 0.8 0.75 0.8 rs1476858 COSM5000095 1(pancreas) . . . . . . . . . . . 0.136 0.260 T 0.0 0.026 B 0.0 0.013 B 0.018 0.275 N 0.546 0.314 P 1.15 0.294 L 8.74 0.001 T 0.54 0.028 N 0.057 0.040 -0.848 0.522 T 0.000 0.000 T . . . 2.007 0.302 16.26 0.975 0.337 0.020 0.060 N c -0.747 -0.657 0.000 0.061 0.487 0.133 0 2.82 0.319 -1.859 0.017 0.012 0.140 0.000 0.063 0.997 0.653 8.646 0.330 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8133 0.5067 0.8147 0.7811 0.9305 0.8716 0.8017 0.7972 0.9112 0.7383 0.5140 0.7995 0.7881 0.9340 0.8766 0.8067 0.8024 hom 2936.28 85 9 125391026 . A C 2936.28 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2924;MQ=59.73;MQ0=0;QD=34.54;VQSLOD=9.2568;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2969,232,0 9 125391369 125391369 A G exonic OR1B1 nonsynonymous SNV OR1B1:NM_001004450:exon1:c.T446C:p.L149S 0.64 0.44 0.6 0.64 0.72 0.87 0.7012 0.4885 0.5643 0.6099 0.7786 0.7258 0.7146 0.8471 0.66 0.51 0.73 0.69 0.75 rs1536929 COSM4163303 1(thyroid) . . . . . . . . . . . 0.461 0.087 T 0.001 0.067 B 0.006 0.112 B 0.263 0.153 N 1 0.090 P -0.55 0.024 N 1.07 0.396 T -0.46 0.150 N 0.081 0.074 -1.007 0.278 T 0.000 0.000 T . . . -0.921 0.035 0.023 0.516 0.045 0.040 0.093 N c -1.059 -1.066 0.001 0.077 0.487 0.133 0 1.96 0.251 -0.536 0.062 0.081 0.190 0.000 0.063 0.109 0.192 6.862 0.231 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7026 0.4845 0.5732 0.7000 0.6120 0.7774 0.7308 0.6985 0.8477 0.6595 0.4879 0.5998 0.6788 0.5975 0.7739 0.7384 0.7118 hom 2565.92 89 9 125391369 . A G 2565.92 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=28.83;VQSLOD=8.9045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2599,223,0 9 125391409 125391409 A G exonic OR1B1 synonymous SNV OR1B1:NM_001004450:exon1:c.T406C:p.L136L 0.41 0.39 0.3 0.34 0.5 0.49 0.4583 0.4231 0.2568 0.3241 0.5971 0.5042 0.4724 0.4498 0.48 0.43 0.5 0.58 0.58 rs1536928 COSM3763605 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4526 0.4221 0.2663 0.4272 0.3218 0.5957 0.5079 0.4512 0.4491 0.4721 0.4172 0.2950 0.3974 0.3278 0.5949 0.5020 0.4764 hom 3578.80 109 9 125391409 . A G 3578.80 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=32.83;VQSLOD=9.7870;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3578,283,0 9 125391770 125391770 - A exonic OR1B1 frameshift insertion OR1B1:NM_001004450:exon1:c.44dupT:p.L15Ffs*8 0.41 0.39 0.3 0.34 0.5 0.49 0.4605 0.4234 0.2577 0.3222 0.5965 0.5058 0.4699 0.4620 0.48 0.43 0.5 . . rs78126045 COSM5022167 1(bone);1(large_intestine);4(central_nervous_system) Benign not_specified RCV000455368.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4534 0.4233 0.2696 0.4292 0.3233 0.5957 0.5080 0.4525 0.4482 0.4726 0.4170 0.2938 0.3974 0.3282 0.5956 0.5030 0.4776 hom 4140.45 127 9 125391770 . C CA 4140.45 Mask AC=2;AF=1.00;AN=2;DP=127;FS=0.000;HRun=7;HaplotypeScore=283.0730;MQ=60.22;MQ0=0;QD=32.35;set=variant2 GT:AD:DP:GQ:PL 1/1:6,119:127:99:4140,355,0 9 125486968 125486968 G A exonic OR1L4 nonsynonymous SNV OR1L4:NM_001005235:exon1:c.G700A:p.G234R 0.85 0.6 0.94 0.93 0.94 0.96 0.9252 0.6526 0.9699 0.9191 0.9013 0.9589 0.9328 0.9411 0.85 0.63 0.96 0.8 0.92 rs2215530 . . . . . . . . . . . . . 0.013 0.538 D 0.344 0.318 B 0.141 0.320 B 0.002 0.385 N 1.000 0.182 P 3.13 0.883 M 8.25 0.003 T -7.65 0.955 D 0.072 0.061 -0.903 0.477 T 0.000 0.000 T . . . 3.336 0.460 22.9 0.974 0.332 0.441 0.270 N c -0.340 -0.416 0.004 0.103 0.526 0.212 0 2.22 0.270 0.944 0.284 0.883 0.387 0.663 0.280 0.955 0.433 9.780 0.396 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9294 0.6361 0.9644 0.9546 0.9242 0.8990 0.9596 0.9382 0.9382 0.8665 0.6511 0.9618 0.9437 0.9273 0.9018 0.9609 0.9076 hom 8536.58 242 9 125486968 . G A 8536.58 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.95;MQ0=4;QD=35.28;VQSLOD=7.5692;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:8536,680,0 9 125920376 125920376 G A exonic STRBP synonymous SNV STRBP:NM_001171137:exon11:c.C918T:p.G306G,STRBP:NM_018387:exon11:c.C960T:p.G320G 0.48 0.069 0.55 0.28 0.85 0.83 0.7131 0.1597 0.4769 0.2487 0.8341 0.8617 0.7561 0.8153 0.63 0.18 0.86 0.36 0.77 rs803736 COSM4419852 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7137 0.1495 0.4956 0.8317 0.2550 0.8317 0.8638 0.7646 0.8158 0.6245 0.1692 0.5218 0.8433 0.2891 0.8285 0.8605 0.7981 hom 3947.27 136 9 125920376 . G A 3947.27 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.432;DP=136;Dels=0.00;FS=3.519;HRun=0;HaplotypeScore=2.5653;MQ=58.90;MQ0=0;MQRankSum=-1.293;QD=29.02;ReadPosRankSum=-1.745;VQSLOD=3.7042;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,134:136:99:3868,255,0 9 126125318 126125318 C A exonic CRB2 nonsynonymous SNV CRB2:NM_173689:exon2:c.C269A:p.T90N 1. 0.99 1. 1. 1. 1. 0.9993 0.9913 1 1 1 1 0.9989 1 1. 0.99 1. 1. 0.87 rs2808415 COSM3763614;COSM3763615 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.186 0.032 N 1 0.090 P 0.01 0.080 N -2.92 0.918 D 2.87 0.002 N 0.008 0.001 -0.902 0.478 T 0.000 0.000 T . . . -2.467 0.004 0.001 0.175 0.005 0.002 0.009 N c -2.114 -2.139 1.000 0.747 0.696 0.567 0 -8.1 0.010 -0.547 0.061 -1.703 0.008 0.000 0.063 0.000 0.016 12.972 0.577 EGF-like domain . . 0.9995 0.9916 0.9999 1 1 1 1.0000 0.9996 1 0.9975 0.9913 1 1 1 1 1 0.9980 hom 3054.25 100 9 126125318 . C A 3054.25 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=58.84;MQ0=0;QD=30.54;VQSLOD=8.9807;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3087,253,0 9 126128211 126128211 T C exonic CRB2 nonsynonymous SNV CRB2:NM_173689:exon3:c.T434C:p.M145T 0.38 0.37 0.35 0.41 0.38 0.35 0.3660 0.3781 0.2541 0.3922 0.3714 0.3805 0.4078 0.3649 0.37 0.35 0.38 0.2 0.38 rs1105223 COSM3750148;COSM3750149 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.284 0.039 N 1 0.090 P -1.195 0.008 N -1.26 0.792 T -0.23 0.107 N 0.037 0.017 -1.091 0.053 T 0.000 0.000 T . . . -1.567 0.015 0.002 0.287 0.015 0.043 0.098 N c -1.605 -1.532 1.000 0.517 0.658 0.486 0 -0.624 0.109 0.220 0.173 -1.087 0.019 0.000 0.063 0.664 0.301 3.639 0.076 . . . 0.3560 0.3564 0.2601 0.3319 0.3929 0.3468 0.3841 0.3458 0.3570 0.3701 0.3728 0.2727 0.3377 0.4112 0.3600 0.3745 0.3411 het 599.15 64 9 126128211 . T C 599.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.786;DP=64;Dels=0.00;FS=1.058;HRun=0;HaplotypeScore=1.8295;MQ=58.33;MQ0=0;MQRankSum=0.545;QD=9.36;ReadPosRankSum=1.026;VQSLOD=5.7970;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,25:64:99:629,0,1077 9 126128253 126128253 G C exonic CRB2 nonsynonymous SNV CRB2:NM_173689:exon3:c.G476C:p.G159A 0.32 0.2 0.33 0.39 0.37 0.33 0.3435 0.2289 0.2420 0.3760 0.3684 0.3718 0.3934 0.3412 0.31 0.21 0.36 0.14 0.34 rs1105222 COSM3750150;COSM455327 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(thyroid);7(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.61 0.416 P 0.397 0.461 B 0.000 0.469 D 0.002 0.442 P 1.445 0.365 L -3.97 0.962 D -0.62 0.183 N 0.25 0.305 -1.133 0.017 T 0.000 0.000 T . . . 1.279 0.218 12.16 0.992 0.535 0.643 0.321 D c -0.009 0.075 1.000 0.747 0.658 0.486 0 4.79 0.608 1.110 0.306 0.941 0.531 0.750 0.289 0.999 0.750 11.265 0.481 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain . . 0.3346 0.2059 0.2472 0.3146 0.3764 0.3428 0.3746 0.3279 0.3331 0.3205 0.2202 0.2524 0.3278 0.3903 0.3591 0.3659 0.3200 het 545.36 50 9 126128253 . G C 545.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=1.796;QD=10.91;ReadPosRankSum=-0.689;VQSLOD=5.4396;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:575,0,722 9 126129904 126129904 C T exonic CRB2 synonymous SNV CRB2:NM_173689:exon6:c.C993T:p.N331N 0.28 0.087 0.32 0.38 0.38 0.33 0.4055 0.1553 0.4107 0.4780 0.4847 0.4572 0.46 0.3548 0.28 0.11 0.37 0.14 0.24 rs10818812 COSM3763616;COSM3763617 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3271 0.1020 0.2464 0.2988 0.3660 0.3585 0.3752 0.3195 0.3348 0.2935 0.1195 0.2374 0.3233 0.3872 0.3625 0.3693 0.3218 het 69.44 11 9 126129904 . C T 69.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.749;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;MQRankSum=0.143;QD=6.31;ReadPosRankSum=-1.186;VQSLOD=5.1434;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:99,0,179 9 126132919 126132919 G A exonic CRB2 synonymous SNV CRB2:NM_173689:exon7:c.G1587A:p.A529A 0.2 0.059 0.18 0.25 0.28 0.26 0.2625 0.0773 0.1560 0.2556 0.2258 0.3182 0.2666 0.2469 0.24 0.087 0.31 0.18 0.29 rs33984675 COSM4409168;COSM4409167 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2578 0.0746 0.1527 0.3640 0.2607 0.2220 0.3128 0.2794 0.2475 0.2303 0.0769 0.1551 0.3344 0.2708 0.2188 0.3189 0.2515 het 1806.81 143 9 126132919 . G A 1806.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.753;DP=143;Dels=0.00;FS=3.069;HRun=1;HaplotypeScore=2.4787;MQ=58.64;MQ0=0;MQRankSum=0.471;QD=12.64;ReadPosRankSum=-0.503;VQSLOD=5.3887;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,69:143:99:1837,0,1910 9 126133497 126133497 C T exonic CRB2 synonymous SNV CRB2:NM_173689:exon8:c.C2076T:p.S692S 0.2 0.053 0.17 0.25 0.27 0.27 0.2626 0.0743 0.1564 0.2565 0.2275 0.3179 0.2671 0.2488 0.24 0.085 0.31 0.18 0.33 rs13290763 COSM4407617;COSM4407618 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2574 0.0716 0.1523 0.3627 0.2617 0.2215 0.3129 0.2797 0.2494 0.2296 0.0746 0.1563 0.3311 0.2707 0.2201 0.3180 0.2531 het 4372.11 250 9 126133497 . C T 4372.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.953;DP=250;DS;Dels=0.00;FS=1.572;HRun=0;HaplotypeScore=7.7974;MQ=59.41;MQ0=0;MQRankSum=2.284;QD=17.49;ReadPosRankSum=-1.452;VQSLOD=2.3249;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,132:250:99:3680,0,3066 9 126133547 126133547 T C exonic CRB2 nonsynonymous SNV CRB2:NM_173689:exon8:c.T2126C:p.V709A 1. 0.99 1. 1. 1. 1. 0.9992 0.9910 1 1 1 0.9999 0.9989 1 1. 0.99 1. 0.98 0.99 rs2488602 . . . . . . . . . . . . . 0.861 0.027 T 0.001 0.090 B 0.001 0.093 B 0.559 0.054 N 1 0.090 P 0.73 0.189 N -1.34 0.800 T -0.02 0.073 N 0.008 0.003 -1.034 0.192 T 0.000 0.000 T . . . -3.003 0.001 0.001 0.266 0.013 0.016 0.052 N c -1.788 -1.869 1.000 0.747 0.696 0.567 0 -6.22 0.019 -2.391 0.011 -3.919 0.001 0.000 0.063 0.001 0.043 10.127 0.416 Concanavalin A-like lectin/glucanase domain|Laminin G domain . . 0.9994 0.9912 0.9999 1 1 1 0.9999 0.9995 1 0.9975 0.9915 1 1 1 1 1 0.9969 hom 7248.46 240 9 126133547 . T C 7248.46 Mask AC=2;AF=1.00;AN=2;DP=240;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8655;MQ=59.19;MQ0=0;QD=30.20;VQSLOD=6.2221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,240:240:99:7247,623,0 9 126134542 126134542 G A exonic CRB2 synonymous SNV CRB2:NM_173689:exon9:c.G2523A:p.T841T 0.33 0.066 0.4 0.38 0.53 0.38 0.4466 0.1082 0.3015 0.3819 0.5053 0.5375 0.4690 0.4031 0.4 0.12 0.54 0.17 0.53 rs61740213 COSM3763619;COSM3763618 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4483 0.1015 0.3130 0.4956 0.3807 0.5036 0.5449 0.4569 0.4002 0.3990 0.1156 0.3043 0.4702 0.3922 0.4991 0.5410 0.4633 het 2138.07 147 9 126134542 . G A 2138.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.944;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7070;MQ=59.69;MQ0=0;MQRankSum=2.113;QD=14.54;ReadPosRankSum=-2.013;VQSLOD=2.5224;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,78:147:99:2168,0,1760 9 126144746 126144746 T C exonic DENND1A synonymous SNV DENND1A:NM_020946:exon22:c.A1995G:p.G665G 0.98 0.92 1. 1. 1. 1. 0.9937 0.9350 0.9966 1 1 0.9994 0.9978 0.9996 0.98 0.94 1. 0.98 0.85 rs2491348 COSM4163319;COSM4163318 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9948 0.9329 0.9971 0.9939 0.9998 1 0.9996 0.9952 0.9996 0.9823 0.9385 0.9940 1 1 1 0.9997 0.9969 hom 2486.29 76 9 126144746 . T C 2486.29 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.3568;MQ=59.39;MQ0=0;QD=32.71;VQSLOD=9.0009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:76:99:2519,205,0 9 126144758 126144758 T C exonic DENND1A synonymous SNV DENND1A:NM_020946:exon22:c.A1983G:p.S661S 1. 0.99 1. 1. 1. 1. 0.9995 0.9940 0.9999 1 1 1 0.9989 0.9999 1. 1. 1. 1. 0.93 rs2808409 COSM4163320;COSM4163321 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9940 0.9999 1 1 1 1.0000 0.9998 0.9999 0.9983 0.9940 1 1 1 1 1 1 hom 2747.74 85 9 126144758 . T C 2747.74 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9973;MQ=59.29;MQ0=0;QD=32.33;VQSLOD=9.0632;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2781,229,0 9 126219706 126219706 A G exonic DENND1A synonymous SNV DENND1A:NM_020946:exon15:c.T1107C:p.D369D,DENND1A:NM_024820:exon15:c.T1107C:p.D369D 0.056 0.06 0.029 0.075 0.047 0.057 0.0575 0.0517 0.0218 0.0687 0.0742 0.0601 0.0639 0.0627 0.053 0.05 0.055 0.098 0.033 rs3829851 COSM5021635;COSM5021636;COSM5021637;COSM150712 1(bone);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0544 0.0507 0.0242 0.0316 0.0662 0.0689 0.0589 0.0545 0.0628 0.0556 0.0465 0.0274 0.0265 0.0660 0.0710 0.0581 0.0601 het 1746.66 133 9 126219706 . A G 1746.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.622;DP=133;DS;Dels=0.00;FS=2.629;HRun=0;HaplotypeScore=3.7244;MQ=59.26;MQ0=0;MQRankSum=-0.538;QD=13.13;ReadPosRankSum=2.352;VQSLOD=5.1757;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,65:133:99:1777,0,1712 9 126783433 126783433 G C exonic LHX2 synonymous SNV LHX2:NM_004789:exon4:c.G783C:p.P261P 0.36 0.18 0.47 0.43 0.44 0.36 0.4235 0.2240 0.5844 0.4242 0.4776 0.4460 0.4040 0.3247 0.38 0.24 0.45 0.32 0.33 rs1042486 COSM5021638 1(bone);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4337 0.2185 0.5791 0.3436 0.4256 0.4787 0.4514 0.4205 0.3213 0.3952 0.2354 0.5789 0.3079 0.4111 0.4811 0.4562 0.4235 het 2702.55 222 9 126783433 . G C 2702.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.633;DP=222;Dels=0.00;FS=0.504;HRun=3;HaplotypeScore=1.9962;MQ=58.97;MQ0=0;MQRankSum=0.855;QD=12.17;ReadPosRankSum=1.155;VQSLOD=6.2143;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,101:222:99:2733,0,2760 9 127101924 127101924 C T exonic NEK6 synonymous SNV NEK6:NM_001166167:exon8:c.C751T:p.L251L,NEK6:NM_001166168:exon8:c.C697T:p.L233L,NEK6:NM_001166169:exon8:c.C772T:p.L258L,NEK6:NM_001166170:exon8:c.C697T:p.L233L,NEK6:NM_014397:exon8:c.C697T:p.L233L,NEK6:NM_001145001:exon9:c.C799T:p.L267L,NEK6:NM_001166171:exon9:c.C799T:p.L267L 0.92 0.73 0.97 1. 1. 0.99 0.9755 0.7651 0.9870 0.9995 1 0.9958 0.9769 0.9956 0.92 0.77 1. 0.87 0.96 rs10760354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9794 0.7567 0.9846 0.9686 0.9998 1.0000 0.9976 0.9807 0.9952 0.9317 0.7670 0.9737 0.9470 0.9994 0.9997 0.9983 0.9827 hom 8226.14 248 9 127101924 . C T 8226.14 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6381;MQ=59.17;MQ0=0;QD=33.17;VQSLOD=8.6244;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8225,653,0 9 127566378 127566378 A G exonic OLFML2A nonsynonymous SNV OLFML2A:NM_001282715:exon3:c.A283G:p.T95A,OLFML2A:NM_182487:exon6:c.A925G:p.T309A 0.82 0.88 0.8 0.9 0.62 0.89 0.7310 0.8671 0.8145 0.9028 0.6066 0.6576 0.7124 0.8432 0.73 0.86 0.66 0.8 0.63 rs7874348 COSM3722869;COSM3722870 1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.712 0.042 T 0.0 0.026 B 0.002 0.063 B 0.130 0.187 N 1 0.090 P -0.69 0.019 N 0.89 0.456 T -0.96 0.350 N 0.015 0.003 -0.997 0.307 T 0.000 0.000 T . . . -1.130 0.027 0.009 0.436 0.033 0.002 0.011 N c -1.304 -1.249 1.000 0.454 0.706 0.609 0 0.46 0.158 -0.425 0.070 -0.285 0.084 0.002 0.151 0.059 0.170 7.665 0.274 . ENSG00000224020.1|ENSG00000185585.15|ENSG00000224020.1 Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Skin_Sun_Exposed_Lower_leg 0.7291 0.8746 0.8053 0.7205 0.9055 0.6120 0.6512 0.7187 0.8413 0.7229 0.8775 0.7938 0.7067 0.9033 0.6092 0.6397 0.6690 het 856.66 71 9 127566378 . A G 856.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DP=71;Dels=0.00;FS=0.928;HRun=0;HaplotypeScore=0.8941;MQ=59.47;MQ0=0;MQRankSum=-0.188;QD=12.07;ReadPosRankSum=-0.505;VQSLOD=6.8105;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,35:71:99:887,0,851 9 127616537 127616537 A G exonic WDR38 nonsynonymous SNV WDR38:NM_001276376:exon2:c.A29G:p.K10R 0.45 0.48 0.36 0.58 0.43 0.37 0.4199 0.4832 0.2966 0.5799 0.2554 0.4291 0.4056 0.4146 0.45 0.48 0.43 0.37 0.42 rs12375547 COSM3982733 1(bone);2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 0.566 0.148 7.914 0.752 0.106 0.015 0.049 N n 0.645 2.006 1.000 0.747 0.570 0.322 0 -6.88 0.015 -1.600 0.022 -1.707 0.008 0.032 0.204 0.871 0.364 1.575 0.024 . ENSG00000136918.3|ENSG00000136935.9|ENSG00000136950.9|ENSG00000136950.9|ENSG00000136935.9|ENSG00000136935.9|ENSG00000136950.9|ENSG00000136935.9|ENSG00000136935.9|ENSG00000232630.1|ENSG00000173611.13|ENSG00000136950.9|ENSG00000136950.9 Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Colon_Transverse|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4114 0.4833 0.3053 0.4427 0.5792 0.2563 0.4345 0.4231 0.4135 0.4209 0.4770 0.3461 0.42 0.6068 0.2610 0.4127 0.3763 hom 7579.85 218 9 127616537 . A G 7579.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.918;DP=218;DS;Dels=0.00;FS=4.999;HRun=1;HaplotypeScore=4.5458;MQ=58.63;MQ0=0;MQRankSum=0.998;QD=34.77;ReadPosRankSum=0.934;VQSLOD=4.9000;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,217:218:99:7542,562,0 9 127618776 127618776 A G exonic WDR38 nonsynonymous SNV WDR38:NM_001276376:exon5:c.A368G:p.H123R,WDR38:NM_001045476:exon6:c.A515G:p.H172R,WDR38:NM_001276374:exon6:c.A515G:p.H172R,WDR38:NM_001276375:exon6:c.A482G:p.H161R 0.9 0.88 0.97 0.77 0.99 0.92 0.9586 0.8771 0.9872 0.7624 0.9872 0.9937 0.9619 0.9349 0.96 0.88 1. 0.92 0.89 rs2274970 COSM5427083 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.779 0.033 T 0.0 0.026 B 0.0 0.013 B 0.033 0.249 N 1.000 0.090 P -1.255 0.008 N 0.74 0.505 T 3.3 0.001 N 0.031 0.012 -0.981 0.348 T 0.000 0.000 T . . . -1.217 0.025 0.006 0.774 0.115 0.026 0.070 N c -1.309 -1.109 1.000 0.747 0.578 0.323 2 2.64 0.304 0.333 0.194 -0.200 0.102 0.043 0.209 0.104 0.190 7.534 0.267 WD40 repeat\x2c conserved site|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.9610 0.8770 0.9833 0.9880 0.7616 0.9895 0.9947 0.9746 0.9365 0.9471 0.8782 0.9761 0.9834 0.7584 0.9888 0.9931 0.9827 hom 1128.82 39 9 127618776 . A G 1128.82 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=28.94;VQSLOD=7.9987;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1162,99,0 9 127618839 127618839 C G exonic WDR38 nonsynonymous SNV WDR38:NM_001276376:exon5:c.C431G:p.A144G,WDR38:NM_001045476:exon6:c.C578G:p.A193G,WDR38:NM_001276374:exon6:c.C578G:p.A193G,WDR38:NM_001276375:exon6:c.C545G:p.A182G 0.98 0.94 0.99 1. 1. 1. 0.9944 0.9366 0.9976 1 1 0.9997 0.9933 1 0.98 0.94 1. 0.99 1. rs10760381 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.361 N 1.000 0.186 P -0.165 0.043 N 0.34 0.582 T 2.17 0.003 N 0.015 0.004 -0.937 0.431 T 0.000 0.000 T . . . 1.864 0.285 15.37 0.903 0.190 0.219 0.213 N c -0.624 -0.414 1.000 0.747 0.578 0.323 2 4.68 0.582 3.020 0.491 0.136 0.221 1.000 0.715 0.988 0.529 12.769 0.566 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.9954 0.9361 0.9969 0.9994 0.9999 1 0.9997 0.9965 1.0000 0.9813 0.9348 0.9952 0.9934 1 1 0.9997 0.9990 hom 1681.76 52 9 127618839 . C G 1681.76 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=32.34;VQSLOD=9.5645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1715,132,0 9 127643456 127643456 T C exonic GOLGA1 synonymous SNV GOLGA1:NM_002077:exon22:c.A2217G:p.E739E 0.3 0.21 0.32 0.34 0.4 0.26 0.3484 0.2266 0.2727 0.3392 0.2218 0.4017 0.3524 0.3183 0.35 0.24 0.41 0.24 0.4 rs687434 COSM3763633 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3442 0.2220 0.2756 0.3947 0.3388 0.2249 0.4078 0.3693 0.3180 0.3153 0.2306 0.2955 0.3859 0.3465 0.2232 0.3817 0.3244 hom 6146.53 199 9 127643456 . T C 6146.53 Mask AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9231;MQ=58.75;MQ0=0;QD=30.89;VQSLOD=8.9500;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,199:199:99:6146,469,0 9 127674200 127674200 A C exonic GOLGA1 nonsynonymous SNV GOLGA1:NM_002077:exon11:c.T949G:p.L317V 0.98 0.94 0.99 1. 1. 1. 0.9943 0.9389 0.9977 1 1 0.9997 0.9934 0.9999 0.98 0.94 1. 0.99 1. rs583134 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.397 N 1 0.090 P -1.49 0.005 N -1.6 0.822 D 1.27 0.010 N 0.029 0.198 -0.970 0.372 T 0.000 0.000 T . . . -2.424 0.004 0.001 0.575 0.057 0.014 0.048 N c -1.572 -1.402 1.000 0.517 0.707 0.730 0 2.92 0.329 1.171 0.313 -0.998 0.022 0.606 0.276 0.038 0.155 4.706 0.121 . . . 0.9955 0.9384 0.9970 0.9994 0.9999 1 0.9997 0.9967 0.9999 0.9818 0.9365 0.9952 0.9934 1 1 0.9997 0.9990 hom 5477.25 185 9 127674200 . A C 5477.25 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7192;MQ=59.65;MQ0=0;QD=29.61;VQSLOD=8.5630;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5476,448,0 9 127818276 127818276 C T exonic SCAI nonsynonymous SNV SCAI:NM_001144877:exon3:c.G109A:p.A37T,SCAI:NM_173690:exon4:c.G178A:p.A60T 0.23 0.13 0.21 0.31 0.31 0.22 0.2543 0.1536 0.1456 0.2835 0.1549 0.3050 0.2315 0.2105 0.26 0.15 0.31 0.18 0.16 rs589292 COSM3763635 1(bone);1(large_intestine) . . . . . . . . . . . 0.811 0.107 T 0.067 0.276 B 0.025 0.276 B 0.007 0.316 N 0.995 0.233 P 0.805 0.203 L 0.86 0.471 T 0.0 0.070 N 0.04 0.101 -0.994 0.316 T 0.000 0.000 T . . . 4.647 0.623 24.5 0.995 0.670 0.911 0.525 D c -0.423 -0.219 0.945 0.276 0.732 0.924 0 3.38 0.376 0.877 0.276 0.077 0.185 1.000 0.715 0.999 0.750 9.353 0.371 . ENSG00000165219.17|ENSG00000136935.9|ENSG00000136950.9|ENSG00000119414.7|ENSG00000119414.7|ENSG00000232630.1|ENSG00000136933.12|ENSG00000119414.7|ENSG00000136935.9|ENSG00000119414.7|ENSG00000232630.1|ENSG00000119414.7|ENSG00000119414.7|ENSG00000136933.12|ENSG00000232630.1|ENSG00000136933.12|ENSG00000136950.9|ENSG00000136933.12 Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood 0.2478 0.1478 0.1562 0.3007 0.2839 0.1552 0.3068 0.2661 0.2083 0.2328 0.1558 0.1950 0.3046 0.2994 0.1601 0.2868 0.2510 hom 808.86 30 9 127818276 . C T 808.86 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=26.96;VQSLOD=8.2383;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:66.20:842,66,0 9 128074807 128074807 T C exonic GAPVD1 synonymous SNV GAPVD1:NM_001282681:exon6:c.T1518C:p.I506I,GAPVD1:NM_001330778:exon7:c.T1518C:p.I506I,GAPVD1:NM_015635:exon7:c.T1518C:p.I506I,GAPVD1:NM_001330777:exon8:c.T1518C:p.I506I,GAPVD1:NM_001282679:exon9:c.T1518C:p.I506I,GAPVD1:NM_001282680:exon9:c.T1518C:p.I506I 0.98 0.99 0.96 1. 0.95 0.99 0.9664 0.9908 0.9818 1 0.9779 0.9476 0.9868 0.9927 0.96 0.99 0.94 0.99 0.98 rs432757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9671 0.9912 0.9794 0.9761 1 0.9753 0.9458 0.9658 0.9928 0.9695 0.9893 0.9749 0.9801 1 0.9751 0.9531 0.9644 hom 3447.07 109 9 128074807 . T C 3447.07 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.79;MQ0=0;QD=31.62;VQSLOD=8.7956;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3447,268,0 9 128246786 128246786 G A exonic MAPKAP1 synonymous SNV MAPKAP1:NM_001006621:exon7:c.C567T:p.H189H,MAPKAP1:NM_001006620:exon8:c.C567T:p.H189H,MAPKAP1:NM_024117:exon8:c.C1035T:p.H345H,MAPKAP1:NM_001006617:exon9:c.C1143T:p.H381H 0.16 0.027 0.16 0.24 0.23 0.2 0.1993 0.0588 0.1380 0.2626 0.1321 0.2327 0.2004 0.1895 0.18 0.065 0.24 0.15 0.17 rs2070113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1973 0.0565 0.1441 0.1978 0.2627 0.1367 0.2371 0.1982 0.1872 0.1677 0.0627 0.1360 0.2318 0.2435 0.1431 0.2257 0.1833 hom 3654.75 126 9 128246786 . G A 3654.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.478;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.56;MQ0=0;MQRankSum=-0.381;QD=29.01;ReadPosRankSum=-0.693;VQSLOD=8.6253;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,124:126:99:3609,247,0 9 129102840 129102840 G A exonic MVB12B synonymous SNV MVB12B:NM_001011703:exon2:c.G135A:p.T45T,MVB12B:NM_033446:exon2:c.G135A:p.T45T 0.31 0.39 0.3 0.29 0.29 0.28 0.3235 0.3628 0.3433 0.2967 0.3866 0.3203 0.3238 0.2862 0.33 0.36 0.32 0.23 0.32 rs1888156 COSM4163334;COSM4163335 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3242 0.3664 0.3418 0.2732 0.2935 0.3941 0.3199 0.3046 0.2861 0.3460 0.3635 0.3329 0.3212 0.2778 0.3952 0.3334 0.3418 het 2272.81 197 9 129102840 . G A 2272.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.520;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4861;MQ=59.31;MQ0=0;MQRankSum=2.653;QD=11.54;ReadPosRankSum=-0.119;VQSLOD=4.0585;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:107,90:197:99:2303,0,2720 9 129453229 129453229 A G exonic LMX1B synonymous SNV LMX1B:NM_001174146:exon3:c.A441G:p.E147E,LMX1B:NM_001174147:exon3:c.A441G:p.E147E,LMX1B:NM_002316:exon3:c.A441G:p.E147E 0.48 0.55 0.41 0.56 0.44 0.4 0.4496 0.5354 0.4605 0.5517 0.3999 0.4298 0.4077 0.4356 0.46 0.52 0.43 0.36 0.34 rs2277158 COSM3763643;COSM3763642;COSM3763641 1(liver);1(large_intestine) Benign|Benign not_specified|Nail-patella_syndrome RCV000251599.1|RCV000321575.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0027341:161200:22199006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4437 0.5281 0.4524 0.4500 0.5559 0.3865 0.4266 0.4306 0.4328 0.4526 0.5218 0.4388 0.4404 0.5525 0.3842 0.4208 0.4153 hom 2298.47 76 9 129453229 . A G 2298.47 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=30.24;VQSLOD=9.1021;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2331,175,0 9 129455587 129455587 G C exonic LMX1B synonymous SNV LMX1B:NM_001174146:exon4:c.G726C:p.S242S,LMX1B:NM_001174147:exon4:c.G726C:p.S242S,LMX1B:NM_002316:exon4:c.G726C:p.S242S 0.44 0.4 0.39 0.56 0.44 0.4 0.4702 0.4389 0.4943 0.5796 0.4417 0.4630 0.4636 0.4567 0.42 0.39 0.43 0.27 0.2 rs13295990 COSM5435233;COSM5435231;COSM5435232 1(oesophagus) Benign|Benign not_specified|Nail-patella_syndrome RCV000243969.2|RCV000349276.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0027341:161200:22199006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4342 0.3959 0.4425 0.4481 0.5543 0.3923 0.4260 0.4217 0.4322 0.4165 0.3903 0.4368 0.4305 0.5541 0.3926 0.4212 0.4141 hom 534.72 17 9 129455587 . G C 534.72 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.45;VQSLOD=13.0896;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:568,45,0 9 129595895 129595895 T C exonic ZBTB43 synonymous SNV ZBTB43:NM_001135776:exon2:c.T1107C:p.T369T,ZBTB43:NM_014007:exon3:c.T1107C:p.T369T 0.84 0.85 0.66 0.97 0.78 0.89 0.7949 0.8425 0.6654 0.9765 0.7591 0.7750 0.8282 0.8538 0.8 0.84 0.78 0.84 0.81 rs3118994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7897 0.8419 0.6804 0.8756 0.9777 0.7623 0.7685 0.7892 0.8472 0.8021 0.8397 0.7041 0.8609 0.9790 0.7603 0.7761 0.7867 hom 3514.05 111 9 129595895 . T C 3514.05 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.62;MQ0=0;QD=31.66;VQSLOD=9.4611;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3513,292,0 9 129854199 129854199 G A exonic ANGPTL2 synonymous SNV ANGPTL2:NM_012098:exon4:c.C1032T:p.D344D 0.29 0.11 0.34 0.3 0.48 0.3 0.4189 0.1640 0.3882 0.2729 0.5886 0.4950 0.4075 0.3020 0.36 0.17 0.46 0.26 0.45 rs2297866 COSM3763644 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4229 0.1596 0.3973 0.4288 0.2767 0.5890 0.4875 0.4471 0.3034 0.4091 0.1680 0.4248 0.4371 0.2915 0.5857 0.5137 0.4980 hom 8343.27 247 9 129854199 . G A 8343.27 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9387;MQ=58.95;MQ0=0;QD=33.78;VQSLOD=6.7422;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:247:99:8342,686,0 9 130191186 130191186 C T exonic ZNF79 nonsynonymous SNV ZNF79:NM_001286696:exon2:c.C20T:p.T7I,ZNF79:NM_007135:exon2:c.C92T:p.T31I,ZNF79:NM_001286697:exon3:c.C20T:p.T7I,ZNF79:NM_001322260:exon3:c.C20T:p.T7I 0.56 0.61 0.65 0.41 0.63 0.5 0.5879 0.6342 0.6797 0.3856 0.6852 0.5972 0.6023 0.5241 0.61 0.64 0.59 0.63 0.52 rs13292096 COSM1179844 1(prostate) . . . . . . . . . . . 0.197 0.250 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 2.44 0.710 M 3.22 0.070 T -0.97 0.258 N 0.031 0.012 -1.028 0.212 T 0.000 0.000 T . . . 2.020 0.304 16.34 0.998 0.858 0.042 0.096 N c -0.671 -0.690 0.994 0.336 0.707 0.730 0 1.95 0.250 0.032 0.135 -0.019 0.130 0.000 0.063 0.245 0.227 4.392 0.107 . ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000148356.9|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000148356.9|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5894 0.6308 0.6792 0.5496 0.3818 0.6770 0.5921 0.6104 0.5194 0.6231 0.6395 0.6806 0.5993 0.3933 0.6739 0.6231 0.6342 hom 707.62 26 9 130191186 . C T 707.62 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=27.22;VQSLOD=8.1203;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:57.18:741,57,0 9 130197414 130197414 A G exonic ZNF79 nonsynonymous SNV ZNF79:NM_001286696:exon3:c.A79G:p.R27G,ZNF79:NM_007135:exon3:c.A151G:p.R51G,ZNF79:NM_001286697:exon4:c.A79G:p.R27G,ZNF79:NM_001322260:exon4:c.A79G:p.R27G 0.56 0.62 0.65 0.41 0.63 0.5 0.5882 0.6386 0.6839 0.3855 0.6851 0.5972 0.6024 0.5190 0.61 0.65 0.59 0.63 0.57 rs4504745 COSM3982739 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.117 0.282 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.78 0.003 N 5.7 0.008 T -1.3 0.326 N 0.028 0.010 -1.079 0.075 T 0.000 0.000 T . . . 0.704 0.161 8.853 0.893 0.181 0.001 0.005 N c -1.240 -1.206 0.962 0.286 0.563 0.310 0 2.5 0.292 0.930 0.283 -0.370 0.067 0.094 0.225 0.010 0.111 5.010 0.136 Krueppel-associated box ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000148356.9|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5913 0.6421 0.6801 0.5501 0.3836 0.6784 0.5941 0.6101 0.5218 0.6256 0.6482 0.6799 0.5993 0.3948 0.6741 0.6231 0.6329 hom 3552.56 114 9 130197414 . A G 3552.56 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=31.16;VQSLOD=9.6023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3552,271,0 9 130206762 130206762 C T exonic ZNF79 synonymous SNV ZNF79:NM_001286698:exon3:c.C381T:p.N127N,ZNF79:NM_001286696:exon5:c.C711T:p.N237N,ZNF79:NM_007135:exon5:c.C783T:p.N261N,ZNF79:NM_001286697:exon6:c.C711T:p.N237N,ZNF79:NM_001322260:exon6:c.C711T:p.N237N 0.33 0.32 0.29 0.16 0.53 0.35 0.4160 0.3387 0.2005 0.1368 0.5929 0.4965 0.4459 0.3647 0.44 0.35 0.48 0.35 0.46 rs2248025 COSM150719 1(bone);1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4110 0.3441 0.2199 0.4274 0.1402 0.5863 0.4920 0.4592 0.3700 0.4569 0.3504 0.2620 0.4470 0.1427 0.5914 0.5286 0.5122 hom 6578.12 205 9 130206762 . C T 6578.12 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0486;MQ=59.57;MQ0=0;QD=32.09;VQSLOD=4.8823;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,204:205:99:6577,527,0 9 130219669 130219669 C T exonic LRSAM1 synonymous SNV LRSAM1:NM_001005374:exon5:c.C249T:p.I83I,LRSAM1:NM_138361:exon5:c.C249T:p.I83I,LRSAM1:NM_001005373:exon6:c.C249T:p.I83I,LRSAM1:NM_001190723:exon6:c.C249T:p.I83I 0.56 0.61 0.65 0.41 0.63 0.5 0.5868 0.6313 0.6818 0.3831 0.6851 0.5967 0.5998 0.5186 0.61 0.64 0.59 0.62 0.53 rs2243906 . . Benign Charcot-Marie-Tooth\x2c_Type_2 RCV000351239.1 MedGen CN239171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5903 0.6327 0.6789 0.5505 0.3845 0.6780 0.5936 0.6100 0.5218 0.6223 0.6387 0.6802 0.5993 0.3944 0.6740 0.6218 0.6334 hom 2763.92 90 9 130219669 . C T 2763.92 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4437;MQ=59.12;MQ0=0;QD=30.71;VQSLOD=7.2220;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2797,229,0 9 130242166 130242166 A G exonic LRSAM1 nonsynonymous SNV LRSAM1:NM_001005374:exon13:c.A952G:p.N318D,LRSAM1:NM_138361:exon13:c.A952G:p.N318D,LRSAM1:NM_001005373:exon14:c.A952G:p.N318D,LRSAM1:NM_001190723:exon14:c.A952G:p.N318D 0.73 0.63 0.81 0.69 0.8 0.77 0.7776 0.6718 0.8732 0.6849 0.8728 0.7820 0.7772 0.7695 0.74 0.68 0.77 0.71 0.67 rs1539567 . . Benign Charcot-Marie-Tooth\x2c_Type_2 RCV000279390.1 MedGen CN239171 . . . . . . 0.765 0.034 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -2.015 0.002 N 1.06 0.760 T 1.71 0.006 N 0.063 0.048 -0.957 0.397 T 0.000 0.000 T . . . 1.057 0.195 10.98 0.410 0.029 0.035 0.086 N c -0.750 -0.477 0.997 0.355 0.745 0.986 0 5.86 0.939 4.074 0.571 0.138 0.222 1.000 0.715 0.583 0.285 8.71 0.334 Insulin-like ENSG00000197958.8|ENSG00000196152.6|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000197958.8|ENSG00000196152.6|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000148356.9|ENSG00000197958.8|ENSG00000197958.8|ENSG00000136856.13|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6|ENSG00000197958.8|ENSG00000196152.6|ENSG00000197958.8|ENSG00000136856.13|ENSG00000196152.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.7808 0.6710 0.8578 0.6576 0.6822 0.8737 0.7832 0.7779 0.7699 0.7726 0.6763 0.8413 0.6887 0.6660 0.8703 0.8118 0.8221 hom 2044.56 71 9 130242166 . A G 2044.56 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9532;MQ=59.68;MQ0=0;QD=28.80;VQSLOD=8.2687;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2078,174,0 9 130475011 130475011 T C exonic CFAP157 synonymous SNV CFAP157:NM_001012502:exon7:c.T1161C:p.S387S 0.64 0.9 0.61 0.37 0.61 0.61 0.6011 0.8490 0.5844 0.3593 0.6802 0.5868 0.6024 0.6166 0.66 0.85 0.57 0.73 0.62 rs522328 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . -0.610 0.049 0.118 0.522 0.046 0.003 0.014 N n 0.152 0.316 1.000 0.467 0.421 0.056 0 -1.1 0.093 -1.325 0.028 -0.417 0.060 0.000 0.063 0.002 0.062 6.417 0.208 . . . 0.5945 0.8567 0.5865 0.6032 0.3609 0.6663 0.5758 0.5983 0.6159 0.6694 0.8482 0.6038 0.5629 0.3882 0.6822 0.6014 0.6258 het 2063 160 9 130475011 . T C 2063 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.002;DP=160;Dels=0.00;FS=1.269;HRun=0;HaplotypeScore=5.2061;MQ=59.32;MQ0=0;MQRankSum=0.985;QD=12.89;ReadPosRankSum=-0.711;VQSLOD=5.5014;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,81:160:99:2093,0,1968 9 130475442 130475442 A C exonic CFAP157 nonsynonymous SNV CFAP157:NM_001012502:exon8:c.A1448C:p.Y483S 0.54 0.59 0.58 0.3 0.6 0.61 0.5716 0.5847 0.5702 0.2893 0.6808 0.5850 0.5860 0.6202 0.58 0.61 0.57 0.54 0.59 rs497632 COSM4163343 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.397 0.106 T 0.014 0.156 B 0.014 0.158 B 0.398 0.132 N 1 0.090 P 1.445 0.365 L 1.04 0.402 T 0.01 0.069 N 0.146 0.172 -0.939 0.428 T 0.000 0.000 T . . . -0.151 0.080 1.378 0.765 0.111 0.098 0.153 N c -0.990 -1.027 1.000 0.404 0.554 0.283 0 0.369 0.153 0.864 0.274 0.238 0.266 0.001 0.137 0.001 0.043 3.138 0.060 . . . 0.5679 0.5833 0.5734 0.6040 0.2880 0.6627 0.5751 0.5797 0.6086 0.5855 0.5825 0.5823 0.5563 0.3074 0.6775 0.5956 0.6033 het 518.61 49 9 130475442 . A C 518.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.675;DP=49;Dels=0.00;FS=4.233;HRun=0;HaplotypeScore=0.9665;MQ=58.76;MQ0=0;MQRankSum=-2.288;QD=10.58;ReadPosRankSum=0.844;VQSLOD=3.9107;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,20:49:99:549,0,697 9 130489558 130489558 A G exonic TTC16 synonymous SNV TTC16:NM_001317037:exon12:c.A1539G:p.K513K,TTC16:NM_144965:exon12:c.A1578G:p.K526K 0.62 0.78 0.6 0.37 0.62 0.67 0.6114 0.7523 0.5850 0.3569 0.7201 0.6059 0.6247 0.6674 0.64 0.74 0.58 0.72 0.62 rs472144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6014 0.7561 0.5844 0.6019 0.3530 0.7053 0.5901 0.6036 0.6499 0.6533 0.7457 0.6062 0.5728 0.3807 0.7210 0.6178 0.6462 het 635.42 50 9 130489558 . A G 635.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.454;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=-0.611;QD=12.71;ReadPosRankSum=-0.270;VQSLOD=6.5614;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,23:50:99:665,0,661 9 130493513 130493513 A G exonic TTC16 synonymous SNV TTC16:NM_001317037:exon14:c.A2412G:p.K804K,TTC16:NM_144965:exon14:c.A2451G:p.K817K 0.62 0.79 0.61 0.37 0.62 0.67 0.6119 0.7552 0.5874 0.3550 0.7196 0.6054 0.6270 0.6552 0.64 0.74 0.58 0.72 0.57 rs482095 COSM3763651 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6051 0.7599 0.5881 0.6175 0.3555 0.7066 0.5922 0.6077 0.6557 0.6553 0.7501 0.6112 0.5728 0.3837 0.7201 0.6186 0.6503 het 726.61 58 9 130493513 . A G 726.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.806;DP=58;Dels=0.00;FS=7.875;HRun=0;HaplotypeScore=6.7615;MQ=59.52;MQ0=0;MQRankSum=1.180;QD=12.53;ReadPosRankSum=-0.571;VQSLOD=4.5235;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,26:58:99:757,0,893 9 130495633 130495633 C G exonic TOR2A nonsynonymous SNV TOR2A:NM_130459:exon3:c.G624C:p.W208C 0.62 0.78 0.61 0.37 0.63 0.67 0.6164 0.7547 0.5856 0.3517 0.7208 0.6134 0.6322 0.6581 0.64 0.74 0.59 0.72 0.54 rs564754 COSM5021642 1(bone) . . . . . . . . . . . 0.196 0.207 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . -0.37 0.689 T 0.6 0.025 N 0.036 0.016 -0.979 0.353 T 0.000 0.000 T . . . 0.081 0.101 3.410 0.646 0.073 0.060 0.118 N c -1.182 -1.246 1.000 0.462 0.615 0.372 0 -1.4 0.085 -1.346 0.027 -0.545 0.048 0.000 0.063 0.001 0.043 5.888 0.180 AAA+ ATPase domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000187024.9 Skin_Sun_Exposed_Lower_leg 0.6102 0.7597 0.5904 0.6221 0.3533 0.7094 0.6010 0.6121 0.6587 0.6588 0.7497 0.6158 0.5960 0.3773 0.7234 0.6253 0.6527 het 735.66 61 9 130495633 . C G 735.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.285;DP=61;Dels=0.00;FS=1.085;HRun=0;HaplotypeScore=1.6640;MQ=60.00;MQ0=0;MQRankSum=0.370;QD=12.06;ReadPosRankSum=-0.443;VQSLOD=5.8306;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,27:61:99:766,0,971 9 130504070 130504070 G A exonic SH2D3C synonymous SNV SH2D3C:NM_001142533:exon7:c.C1611T:p.A537A,SH2D3C:NM_001142534:exon7:c.C1605T:p.A535A,SH2D3C:NM_001142531:exon8:c.C1023T:p.A341A,SH2D3C:NM_001142532:exon8:c.C1023T:p.A341A,SH2D3C:NM_005489:exon8:c.C1614T:p.A538A,SH2D3C:NM_001252334:exon9:c.C1881T:p.A627A,SH2D3C:NM_170600:exon9:c.C2085T:p.A695A 0.53 0.57 0.58 0.28 0.61 0.62 0.5681 0.5706 0.5468 0.2685 0.6614 0.5847 0.5765 0.6342 0.58 0.58 0.58 0.58 0.6 rs514024 . . . . . . . Eating disorders (purging via substances) . .06 23568457 rs514024 5E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5639 0.5630 0.5462 0.6016 0.2714 0.6475 0.5766 0.5761 0.6277 0.5736 0.5649 0.5707 0.5828 0.2915 0.6590 0.5883 0.5881 het 969.71 72 9 130504070 . G A 969.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.989;DP=72;Dels=0.00;FS=3.374;HRun=0;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;MQRankSum=0.859;QD=13.47;ReadPosRankSum=-0.170;VQSLOD=5.6803;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,39:72:99:1000,0,869 9 130536717 130536717 G A exonic SH2D3C nonsynonymous SNV SH2D3C:NM_170600:exon2:c.C67T:p.L23F 0.54 0.21 0.51 0.9 0.52 0.64 0.5627 0.2554 0.5696 0.9154 0.4942 0.5542 0.5751 0.6274 0.46 0.27 0.56 0.43 0.48 rs10760500 COSM5021643;COSM5021644 1(bone) . . . . . . . . . . . 0.0 0.912 D 0.009 0.139 B 0.012 0.149 B 0.016 0.280 N 0.010 0.411 P 1.04 0.263 L 1.9 0.235 T -0.04 0.076 N 0.059 0.043 -1.061 0.114 T 0.000 0.000 T . . . 4.414 0.591 24.1 0.999 0.942 0.807 0.400 D c -0.219 -0.057 1.000 0.473 0.707 0.730 0 3.19 0.356 4.992 0.634 1.048 0.713 1.000 0.715 0.998 0.697 8.879 0.343 . ENSG00000136877.10|ENSG00000136877.10|ENSG00000136807.7|ENSG00000136877.10 Cells_Transformed_fibroblasts|Nerve_Tibial|Pancreas|Pancreas 0.5662 0.2505 0.5658 0.4732 0.9142 0.5051 0.5601 0.5522 0.6269 0.4843 0.2598 0.5574 0.5397 0.9109 0.5011 0.5551 0.5541 het 1063.20 76 9 130536717 . G A 1063.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.831;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0520;MQ=60.00;MQ0=0;MQRankSum=0.582;QD=13.99;ReadPosRankSum=-1.070;VQSLOD=4.9019;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:37,39:76:99:1093,0,1036 9 130605385 130605385 C T exonic ENG synonymous SNV ENG:NM_000118:exon2:c.G207A:p.L69L,ENG:NM_001114753:exon2:c.G207A:p.L69L 0.11 0.24 0.085 0.047 0.1 0.03 0.0982 0.2394 0.0543 0.0473 0.0641 0.1055 0.0969 0.0512 0.15 0.25 0.1 0.2 0.074 rs11545664 COSM4783682;COSM3763659 1(large_intestine) Benign|Likely benign|Likely benign not_specified|Juvenile_Polyposis|Osler_hemorrhagic_telangiectasia_syndrome RCV000150652.4|RCV000273604.1|RCV000368171.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239474|C0039445:187300:ORPHA774:21877004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0924 0.2418 0.0629 0.0947 0.0468 0.0680 0.1031 0.1016 0.0520 0.1371 0.2434 0.0692 0.1225 0.0544 0.0690 0.1069 0.0941 het 3186.66 248 9 130605385 . C T 3186.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.127;DP=248;DS;Dels=0.00;FS=3.586;HRun=0;HaplotypeScore=8.3130;MQ=59.19;MQ0=0;MQRankSum=-0.704;QD=12.85;ReadPosRankSum=1.266;VQSLOD=4.2884;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,123:248:99:3217,0,3347 9 130630639 130630639 A G exonic AK1 synonymous SNV AK1:NM_001318122:exon5:c.T525C:p.P175P,AK1:NM_000476:exon6:c.T477C:p.P159P,AK1:NM_001318121:exon6:c.T477C:p.P159P 1. 0.99 1. 1. 1. 1. 0.9995 0.9940 0.9999 1 1 1.0000 0.9976 1 1. 0.99 1. 1. 0.87 rs913986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9932 0.9998 1 1 1 1.0000 0.9998 1 0.9980 0.9930 1 1 1 1 1 1 hom 600.20 19 9 130630639 . A G 600.20 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.59;VQSLOD=14.1397;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:57.15:633,57,0 9 130698029 130698029 G C exonic DPM2 nonsynonymous SNV DPM2:NM_003863:exon4:c.C227G:p.T76S 0.68 0.65 0.85 0.45 0.87 0.66 0.7873 0.6671 0.8108 0.4533 0.8729 0.8579 0.7633 0.7030 0.8 0.68 0.87 0.66 0.87 rs7997 COSM3982740 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Congenital_disorder_of_glycosylation RCV000116901.2|RCV000364982.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P . . . 0.17 0.605 T 1.79 0.005 N 0.065 0.051 -0.941 0.425 T 0.000 0.000 T . . . -0.589 0.051 0.133 0.753 0.107 0.157 0.188 N c -1.052 -0.946 1.000 0.747 0.737 0.974 0 2.74 0.312 0.034 0.136 -1.792 0.007 0.921 0.317 0.019 0.132 4.079 0.093 . ENSG00000167103.7|ENSG00000167103.7|ENSG00000167103.7|ENSG00000167103.7|ENSG00000167103.7|ENSG00000167103.7|ENSG00000136908.13|ENSG00000136908.13|ENSG00000136908.13|ENSG00000136908.13|ENSG00000167103.7|ENSG00000136908.13|ENSG00000167103.7|ENSG00000167103.7|ENSG00000167103.7|ENSG00000136908.13|ENSG00000167103.7|ENSG00000136908.13|ENSG00000167103.7|ENSG00000167103.7|ENSG00000136908.13|ENSG00000167103.7|ENSG00000167103.7|ENSG00000136908.13|ENSG00000136908.13|ENSG00000227218.3|ENSG00000167103.7|ENSG00000167103.7|ENSG00000136908.13|ENSG00000227218.3|ENSG00000167106.7|ENSG00000167103.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.7908 0.6672 0.8131 0.7295 0.4581 0.8647 0.8667 0.7982 0.7037 0.7935 0.6731 0.8222 0.7285 0.4609 0.8672 0.8803 0.8162 hom 2798.94 91 9 130698029 . G C 2798.94 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=30.76;VQSLOD=8.5134;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2832,214,0 9 130698043 130698043 A G exonic DPM2 synonymous SNV DPM2:NM_003863:exon4:c.T213C:p.Y71Y 0.73 0.65 0.88 0.65 0.87 0.67 0.8139 0.6687 0.8819 0.6674 0.9039 0.8606 0.7976 0.7109 0.81 0.68 0.87 0.71 0.86 rs6781 COSM5505039 1(biliary_tract) Benign|Benign not_specified|Congenital_disorder_of_glycosylation RCV000116900.5|RCV000265670.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8192 0.6684 0.8736 0.7331 0.6708 0.8972 0.8684 0.8180 0.7110 0.8118 0.6742 0.8831 0.7351 0.6708 0.8973 0.8831 0.8371 hom 2569.53 89 9 130698043 . A G 2569.53 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.06;MQ0=0;QD=28.87;VQSLOD=8.1631;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2603,205,0 9 130707081 130707081 A G exonic FAM102A synonymous SNV FAM102A:NM_203305:exon6:c.T588C:p.D196D,FAM102A:NM_001035254:exon9:c.T1014C:p.D338D 0.7 0.71 0.86 0.45 0.87 0.66 0.7923 0.7119 0.8146 0.4578 0.8741 0.8591 0.7669 0.7028 0.82 0.72 0.87 0.69 0.84 rs2274426 COSM5618767 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7941 0.7110 0.8159 0.7348 0.4593 0.8648 0.8673 0.8010 0.7035 0.8059 0.7150 0.8270 0.7285 0.4611 0.8672 0.8810 0.8194 hom 1724.51 54 9 130707081 . A G 1724.51 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;QD=31.94;VQSLOD=9.6707;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1758,138,0 9 130829039 130829039 A G exonic NAIF1 synonymous SNV NAIF1:NM_197956:exon1:c.T342C:p.G114G 0.99 0.97 1. 1. 1. 1. 0.9974 0.9706 0.9990 1 1 1.0000 0.9989 0.9999 0.99 0.97 1. 1. 0.75 rs1539350 COSM4163355 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9979 0.9698 0.9989 1 1 1 0.9999 0.9981 0.9999 0.9910 0.9682 1 1 1 1 1 1 hom 1948.11 61 9 130829039 . A G 1948.11 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6617;MQ=58.62;MQ0=0;QD=31.94;VQSLOD=8.7868;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1981,168,0 9 130860866 130860866 T C exonic SLC25A25 synonymous SNV SLC25A25:NM_052901:exon1:c.T21C:p.Y7Y 0.95 0.84 0.98 1. 1. 1. 0.9856 0.8430 0.9938 1 1 0.9995 0.9901 0.9998 0.95 0.84 1. 0.96 0.98 rs947624 COSM4163357 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9884 0.8369 0.9927 0.9998 0.9999 1 0.9995 0.9918 0.9998 0.9529 0.8357 0.9904 1 1 1 0.9995 0.9888 hom 3073.36 93 9 130860866 . T C 3073.36 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6668;MQ=59.20;MQ0=0;QD=33.05;VQSLOD=8.2230;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3106,259,0 9 130864676 130864676 T C exonic SLC25A25 synonymous SNV SLC25A25:NM_001006641:exon4:c.T504C:p.I168I,SLC25A25:NM_001006642:exon4:c.T462C:p.I154I,SLC25A25:NM_052901:exon4:c.T402C:p.I134I,SLC25A25:NM_001265614:exon5:c.T498C:p.I166I,SLC25A25:NM_001330988:exon5:c.T540C:p.I180I 0.95 0.84 0.98 1. 1. 1. 0.9856 0.8420 0.9941 1 1 0.9996 0.9901 0.9999 0.95 0.84 1. 0.96 1. rs7859709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9884 0.8359 0.9929 1 0.9999 1 0.9995 0.9918 0.9998 0.9528 0.8353 0.9904 1 1 1 0.9995 0.9888 hom 4424.02 152 9 130864676 . T C 4424.02 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.36;MQ0=0;QD=29.11;VQSLOD=8.3018;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:4423,364,0 9 130883511 130883511 C T exonic PTGES2 synonymous SNV PTGES2:NM_025072:exon7:c.G1047A:p.A349A,PTGES2:NM_001256335:exon8:c.G474A:p.A158A,PTGES2:NM_198938:exon8:c.G474A:p.A158A 0.94 0.76 0.99 1. 1. 1. 0.9813 0.7902 0.9917 1 1 0.9992 0.9899 0.9993 0.93 0.8 1. 0.85 0.93 rs2040004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9844 0.7749 0.9904 0.9934 1 1 0.9995 0.9911 0.9994 0.9367 0.7794 0.9881 0.9933 1 1 0.9993 0.9867 hom 874.19 29 9 130883511 . C T 874.19 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=60.00;MQ0=0;QD=30.14;VQSLOD=6.9773;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:75.21:907,75,0 9 131019738 131019738 T C exonic GOLGA2 nonsynonymous SNV GOLGA2:NM_004486:exon25:c.A2704G:p.R902G 0.16 0.24 0.14 0.2 0.059 0.16 0.1058 0.2281 0.2041 0.1982 0.0592 0.0569 0.0969 0.1290 0.11 0.23 0.056 0.076 0.041 rs2240961 COSM5463754 2(large_intestine) . . . . . . . . . . . 0.002 0.721 D 0.983 0.585 D 0.79 0.559 P 0.000 0.477 D 0.359 0.329 P 2.195 0.620 M 1.69 0.270 T -3.45 0.675 D 0.068 0.055 -1.076 0.082 T 0.000 0.000 T . . . 3.847 0.519 23.4 0.986 0.432 0.877 0.471 D c -0.077 -0.213 1.000 0.747 0.707 0.730 0 3.62 0.405 3.833 0.552 1.061 0.807 0.796 0.294 0.148 0.204 11.425 0.491 . . . 0.1062 0.2326 0.1917 0.0543 0.2052 0.0617 0.0563 0.0938 0.1267 0.1195 0.2298 0.1651 0.0596 0.2153 0.0544 0.0604 0.0971 het 875.40 62 9 131019738 . T C 875.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.267;DP=62;Dels=0.00;FS=1.358;HRun=1;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;MQRankSum=0.180;QD=14.12;ReadPosRankSum=-0.022;VQSLOD=5.0346;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,31:62:99:905,0,982 9 131020796 131020798 CCT - exonic GOLGA2 nonframeshift deletion GOLGA2:NM_004486:exon21:c.2144_2146del:p.E715del 0.26 0.45 0.18 0.29 0.1 0.2 0.1551 0.4029 0.1685 0.2522 0.0684 0.1012 0.1441 0.1947 0.23 0.43 0.13 0.022 . rs763875065 COSM1489693 1(breast);1(haematopoietic_and_lymphoid_tissue);2(stomach);2(urinary_tract);1(lung);9(upper_aerodigestive_tract);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1602 0.4008 0.2217 0.1409 0.2871 0.0894 0.1048 0.1572 0.1755 0.2016 0.4317 0.2002 0.1154 0.2777 0.0823 0.0935 0.1309 het 149.74 18 9 131020795 . GCCT G 149.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DP=18;FS=0.000;HRun=0;HaplotypeScore=77.1291;MQ=61.71;MQ0=0;MQRankSum=2.074;QD=8.32;ReadPosRankSum=-0.377;set=variant2 GT:AD:DP:GQ:PL 0/1:12,6:18:99:189,0,352 9 131027963 131027963 A G exonic GOLGA2 synonymous SNV GOLGA2:NM_004486:exon11:c.T753C:p.S251S 0.12 0.036 0.12 0.24 0.059 0.15 0.0948 0.0476 0.1936 0.2680 0.0592 0.0568 0.0889 0.1287 0.051 0.043 0.055 0.054 0.025 rs12335848 COSM1162570 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0971 0.0439 0.1808 0.0494 0.2720 0.0620 0.0559 0.0863 0.1264 0.0694 0.0423 0.1492 0.0430 0.2918 0.0544 0.0602 0.0787 het 421.59 33 9 131027963 . A G 421.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.874;DP=33;Dels=0.00;FS=3.192;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.127;QD=12.78;ReadPosRankSum=-2.549;VQSLOD=5.3790;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:452,0,450 9 131085373 131085373 G C exonic COQ4 nonsynonymous SNV COQ4:NM_001305942:exon2:c.G149C:p.G50A,COQ4:NM_016035:exon2:c.G149C:p.G50A 1. 0.99 1. 1. 1. 1. 0.9988 0.9908 0.9981 1 1 0.9995 0.9928 0.9999 1. 0.99 1. 0.92 0.84 rs3003601 . . Likely benign not_specified RCV000436359.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.004 0.093 B 0.252 0.155 N 1 0.090 P -1.765 0.003 N 1.13 0.386 T 1.92 0.005 N 0.022 0.071 -1.009 0.273 T 0.000 0.000 T . . . -0.680 0.046 0.080 0.798 0.125 0.002 0.010 N c -1.380 -1.241 1.000 0.747 0.442 0.072 0 -2.65 0.057 0.051 0.139 -0.305 0.080 0.047 0.211 0.956 0.434 8.331 0.312 . . . 0.9989 0.9902 0.9984 1 1 1 0.9995 0.9983 0.9999 0.9967 0.9890 0.9988 1 1 1 0.9997 0.9980 hom 684.60 27 9 131085373 . G C 684.60 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.61;MQ0=0;QD=25.36;VQSLOD=6.7502;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:60.15:718,60,0 9 131196695 131196695 C T exonic CERCAM synonymous SNV CERCAM:NM_001286760:exon11:c.C1104T:p.L368L,CERCAM:NM_016174:exon11:c.C1338T:p.L446L 0.29 0.37 0.18 0.41 0.21 0.25 0.2315 0.3663 0.2188 0.4152 0.2413 0.1856 0.2233 0.2415 0.24 0.36 0.18 0.3 0.16 rs7258 COSM4007057;COSM4007058 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2271 0.3700 0.2146 0.1350 0.4125 0.2422 0.1847 0.2098 0.2409 0.2487 0.3574 0.1942 0.1556 0.4008 0.2517 0.1764 0.2039 het 571.10 66 9 131196695 . C T 571.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.119;DP=66;Dels=0.00;FS=2.346;HRun=1;HaplotypeScore=3.9256;MQ=58.73;MQ0=0;MQRankSum=-0.357;QD=8.65;ReadPosRankSum=-2.432;VQSLOD=4.3890;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,25:66:99:601,0,1158 9 131196704 131196704 G A exonic CERCAM synonymous SNV CERCAM:NM_001286760:exon11:c.G1113A:p.K371K,CERCAM:NM_016174:exon11:c.G1347A:p.K449K 0.38 0.66 0.21 0.4 0.21 0.25 0.2554 0.6158 0.2320 0.4107 0.2413 0.1877 0.2395 0.2439 0.32 0.6 0.18 0.39 0.17 rs7259 COSM3763662;COSM3763663 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2465 0.6253 0.2287 0.1453 0.4084 0.2424 0.1867 0.2219 0.2432 0.3224 0.6121 0.2218 0.1722 0.3967 0.2517 0.1779 0.2188 het 556.07 68 9 131196704 . G A 556.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.994;DP=68;Dels=0.00;FS=2.281;HRun=2;HaplotypeScore=1.7653;MQ=58.76;MQ0=0;MQRankSum=1.128;QD=8.18;ReadPosRankSum=-1.193;VQSLOD=5.5044;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,23:68:99:586,0,1303 9 131285955 131285955 A G exonic GLE1 nonsynonymous SNV GLE1:NM_001003722:exon6:c.A727G:p.I243V,GLE1:NM_001499:exon6:c.A727G:p.I243V 0.35 0.38 0.24 0.48 0.25 0.35 0.2679 0.3853 0.3169 0.4420 0.2398 0.2066 0.25 0.3272 0.26 0.39 0.2 0.35 0.12 rs2275260 COSM5425924;COSM5425923 2(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Lethal_Congenital_Contracture_Syndrome|Lethal_arthrogryposis_with_anterior_horn_cell_disease RCV000179351.2|RCV000334555.1|RCV000405131.1 MedGen|MedGen|MedGen:OMIM:Orphanet CN169374|CN239241|C2678471:611890:ORPHA53696 . . . . . . 0.111 0.290 T 0.0 0.026 B 0.0 0.040 B 0.558 0.114 N 1 0.417 P -1.01 0.011 N 0.05 0.619 T 0.53 0.028 N 0.005 0.000 -0.941 0.425 T 0.000 0.000 T . . . -1.126 0.027 0.009 0.539 0.049 0.049 0.105 N c -1.217 -1.153 1.000 0.747 0.707 0.730 0 -2.42 0.061 1.809 0.383 -0.231 0.094 0.994 0.380 0.263 0.230 7.944 0.290 . ENSG00000273186.1|ENSG00000273186.1|ENSG00000228510.2|ENSG00000228510.2|ENSG00000273186.1|ENSG00000167123.14|ENSG00000273186.1|ENSG00000136811.12|ENSG00000167123.14|ENSG00000272960.1|ENSG00000167123.14|ENSG00000273186.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Hippocampus|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.2660 0.3895 0.3080 0.1668 0.4401 0.2431 0.2081 0.2406 0.3236 0.2671 0.3759 0.2751 0.1722 0.4472 0.2559 0.1908 0.2327 hom 2987.24 92 9 131285955 . A G 2987.24 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7351;MQ=59.39;MQ0=0;QD=32.47;VQSLOD=9.0948;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3020,241,0 9 131346218 131346218 A C exonic SPTAN1 synonymous SNV SPTAN1:NM_001130438:exon16:c.A2163C:p.A721A,SPTAN1:NM_001195532:exon16:c.A2163C:p.A721A,SPTAN1:NM_003127:exon16:c.A2163C:p.A721A 0.97 0.89 0.99 1. 1. 1. 0.9914 0.9067 0.9949 1 1 0.9998 0.9978 0.9996 0.97 0.91 1. 0.94 0.98 rs10760566 . . Benign|Likely benign not_specified|Early_infantile_epileptic_encephalopathy RCV000128236.2|RCV000233124.2 MedGen|MedGen:Orphanet CN169374|C0393706:ORPHA1934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9929 0.9009 0.9951 1 0.9999 1 0.9997 0.9962 0.9998 0.9713 0.8996 0.9952 1 1 1 0.9998 0.9939 hom 4226.95 132 9 131346218 . A C 4226.95 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=58.89;MQ0=0;QD=32.02;VQSLOD=9.7833;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:132:99:4227,322,0 9 131360750 131360750 C T exonic SPTAN1 synonymous SNV SPTAN1:NM_001195532:exon24:c.C3426T:p.L1142L,SPTAN1:NM_001130438:exon25:c.C3486T:p.L1162L,SPTAN1:NM_003127:exon25:c.C3486T:p.L1162L 0.64 0.42 0.79 0.51 0.88 0.72 0.8064 0.4910 0.7891 0.5170 0.8249 0.8963 0.8175 0.7815 0.76 0.48 0.9 0.61 0.86 rs2227864 COSM5019124;COSM5019123 22(soft_tissue) Benign\x2cBenign|Benign not_specified\x2cnot_specified|Early_Infantile_Epileptic_Encephalopathy\x2c_Autosomal_Dominant RCV000147625.1\x2cRCV000147626.2|RCV000390746.1 MedGen\x2cMedGen|MedGen CN169374\x2cCN169374|CN239232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8050 0.4675 0.7872 0.8954 0.5051 0.8190 0.8983 0.8274 0.7769 0.7491 0.4777 0.7828 0.9172 0.5161 0.8242 0.9048 0.8160 het 813.77 72 9 131360750 . C T 813.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.343;DP=72;Dels=0.00;FS=3.326;HRun=1;HaplotypeScore=2.5756;MQ=60.00;MQ0=0;MQRankSum=0.642;QD=11.30;ReadPosRankSum=0.991;VQSLOD=5.9981;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:844,0,1039 9 131375701 131375701 A G exonic SPTAN1 synonymous SNV SPTAN1:NM_001195532:exon38:c.A5010G:p.L1670L,SPTAN1:NM_003127:exon39:c.A5070G:p.L1690L,SPTAN1:NM_001130438:exon40:c.A5085G:p.L1695L 0.98 0.95 0.99 1. 1. 1. 0.9959 0.9561 0.9972 1 1 1.0000 0.9989 0.9998 0.99 0.96 1. 0.97 0.99 rs1415568 . . Benign|Benign not_specified|Early_infantile_epileptic_encephalopathy RCV000128256.2|RCV000471996.1 MedGen|MedGen:Orphanet CN169374|C0393706:ORPHA1934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9966 0.9529 0.9976 1 1 1 0.9999 0.9984 0.9999 0.9846 0.9466 0.9952 1 1 1 0.9999 0.9939 hom 3587.48 119 9 131375701 . A G 3587.48 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=59.16;MQ0=0;QD=30.15;VQSLOD=9.3955;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3587,268,0 9 131379967 131379967 C T exonic SPTAN1 synonymous SNV SPTAN1:NM_001195532:exon40:c.C5331T:p.T1777T,SPTAN1:NM_003127:exon41:c.C5391T:p.T1797T,SPTAN1:NM_001130438:exon42:c.C5406T:p.T1802T 0.62 0.33 0.78 0.51 0.88 0.72 0.7913 0.3907 0.7772 0.5010 0.8208 0.8972 0.8079 0.7642 0.73 0.4 0.9 0.58 0.86 rs2227862 COSM4163385;COSM4163386 22(soft_tissue);1(thyroid) Benign\x2cBenign|Benign not_specified\x2cnot_specified|Early_Infantile_Epileptic_Encephalopathy\x2c_Autosomal_Dominant RCV000147635.1\x2cRCV000147636.3|RCV000406015.1 MedGen\x2cMedGen|MedGen CN169374\x2cCN169374|CN239232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7976 0.3814 0.7808 0.8921 0.5008 0.8193 0.9000 0.8239 0.7670 0.7233 0.3892 0.7709 0.9133 0.5099 0.8235 0.9049 0.8143 het 1646.48 112 9 131379967 . C T 1646.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.787;DP=112;Dels=0.00;FS=0.716;HRun=0;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;MQRankSum=1.209;QD=14.70;ReadPosRankSum=-0.510;VQSLOD=5.8054;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,64:112:99:1676,0,1122 9 131397479 131397479 G A exonic WDR34 synonymous SNV WDR34:NM_052844:exon6:c.C873T:p.T291T 0.62 0.37 0.79 0.49 0.87 0.72 0.7883 0.4190 0.7823 0.4871 0.8171 0.8863 0.8030 0.7709 0.73 0.42 0.89 0.59 0.85 rs4837291 COSM4007061 1(urinary_tract);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7927 0.4060 0.7833 0.8876 0.4857 0.8139 0.8877 0.8178 0.7725 0.7249 0.4205 0.7835 0.9073 0.4994 0.8172 0.8930 0.8023 het 1005.29 66 9 131397479 . G A 1005.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.178;DP=66;Dels=0.00;FS=4.975;HRun=0;HaplotypeScore=2.3919;MQ=59.08;MQ0=0;MQRankSum=0.164;QD=15.23;ReadPosRankSum=-0.441;VQSLOD=5.7463;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,35:66:99:1035,0,790 9 131398636 131398636 C T exonic WDR34 synonymous SNV WDR34:NM_052844:exon4:c.G627A:p.Q209Q 0.6 0.28 0.78 0.51 0.87 0.72 0.8046 0.3930 0.7946 0.5616 0.8348 0.8913 0.8227 0.7870 0.71 0.35 0.89 0.59 0.49 rs10760570 COSM455423;COSM3763664 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7912 0.3343 0.7799 0.8882 0.5133 0.8160 0.8884 0.8169 0.7748 0.7045 0.3436 0.7697 0.9073 0.5192 0.8173 0.8937 0.7967 het 330.56 24 9 131398636 . C T 330.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.976;DP=24;Dels=0.00;FS=7.060;HRun=1;HaplotypeScore=0.9159;MQ=59.03;MQ0=0;MQRankSum=0.472;QD=13.77;ReadPosRankSum=-0.220;VQSLOD=5.2968;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,14:24:99:361,0,230 9 131403096 131403096 A G exonic WDR34 synonymous SNV WDR34:NM_052844:exon2:c.T309C:p.Y103Y 0.74 0.69 0.82 0.61 0.87 0.76 0.8268 0.7212 0.7950 0.5910 0.8181 0.8888 0.8267 0.7919 0.84 0.72 0.89 0.67 0.88 rs2298045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8261 0.7212 0.7987 0.8950 0.5881 0.8155 0.8901 0.8379 0.7927 0.8181 0.7260 0.7936 0.9133 0.5871 0.8176 0.8960 0.8214 het 856.96 77 9 131403096 . A G 856.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.236;DP=77;Dels=0.00;FS=1.853;HRun=0;HaplotypeScore=2.6475;MQ=59.70;MQ0=0;MQRankSum=-0.180;QD=11.13;ReadPosRankSum=-2.005;VQSLOD=5.8204;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,34:77:99:887,0,1168 9 131565554 131565554 T C exonic TBC1D13 nonsynonymous SNV TBC1D13:NM_018201:exon8:c.T569C:p.V190A 0.5 0.92 0.26 0.36 0.29 0.48 0.3452 0.8290 0.2326 0.3591 0.1963 0.2805 0.3226 0.4332 0.46 0.81 0.28 0.59 0.31 rs1572912 COSM4163391 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.540 0.115 N 1 0.090 P -1.15 0.009 N 0.99 0.418 T 0.34 0.038 N 0.017 0.003 -0.971 0.371 T 0.000 0.000 T . . . -1.772 0.011 0.002 0.197 0.007 0.028 0.074 N c -1.500 -1.439 0.283 0.190 0.707 0.730 0 2.49 0.291 0.680 0.248 -1.028 0.021 0.000 0.063 0.011 0.114 6.324 0.203 Rab-GTPase-TBC domain ENSG00000167136.6|ENSG00000167136.6|ENSG00000167136.6|ENSG00000198917.7|ENSG00000167136.6|ENSG00000167136.6|ENSG00000198917.7|ENSG00000167136.6|ENSG00000167136.6|ENSG00000175287.14|ENSG00000167136.6|ENSG00000167136.6|ENSG00000167136.6|ENSG00000160447.6|ENSG00000167136.6|ENSG00000167136.6|ENSG00000167136.6 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.3279 0.8373 0.2386 0.3081 0.3648 0.1921 0.2807 0.3205 0.4285 0.4226 0.8217 0.2721 0.2881 0.3800 0.1805 0.2724 0.2739 het 1206.08 80 9 131565554 . T C 1206.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.815;DP=80;Dels=0.00;FS=0.878;HRun=0;HaplotypeScore=1.9148;MQ=58.61;MQ0=0;MQRankSum=-0.657;QD=15.08;ReadPosRankSum=0.268;VQSLOD=5.9113;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,46:80:99:1236,0,867 9 131586374 131586374 G A exonic SPOUT1 synonymous SNV SPOUT1:NM_016390:exon10:c.C891T:p.A297A 0.36 0.56 0.2 0.27 0.25 0.41 0.2814 0.4992 0.1908 0.2626 0.1804 0.2499 0.2783 0.3816 0.33 0.49 0.25 0.36 0.23 rs7033070 COSM455428 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2672 0.5001 0.1899 0.2462 0.2704 0.1696 0.2496 0.2632 0.3761 0.3068 0.5017 0.2100 0.2185 0.2893 0.1600 0.2426 0.2182 het 461.48 36 9 131586374 . G A 461.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.222;DP=36;Dels=0.00;FS=7.519;HRun=1;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;MQRankSum=1.046;QD=12.82;ReadPosRankSum=0.982;VQSLOD=4.9104;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,17:36:99:491,0,460 9 131588888 131588888 G C exonic SPOUT1 nonsynonymous SNV SPOUT1:NM_016390:exon5:c.C389G:p.T130R 0.46 0.76 0.25 0.36 0.29 0.48 0.3384 0.6833 0.2291 0.3666 0.2239 0.2894 0.3337 0.4539 0.42 0.67 0.29 0.5 0.3 rs6478854 . . . . . . . . . . . . . 0.555 0.065 T 0.0 0.026 B 0.002 0.063 B . . . 1.000 0.192 P 0.605 0.157 N 1.01 0.411 T -0.71 0.202 N 0.038 0.018 -0.933 0.438 T 0.000 0.000 T . . . 0.763 0.167 9.235 0.739 0.102 0.313 0.241 N c -1.018 -0.986 1.000 0.747 0.672 0.522 0 -4.31 0.034 -0.125 0.105 -0.703 0.037 0.003 0.159 0.979 0.486 1.750 0.028 Alpha/beta knot methyltransferases|tRNA (guanine-N1-)-methyltransferase\x2c N-terminal ENSG00000167136.6|ENSG00000198917.7|ENSG00000167136.6|ENSG00000167136.6|ENSG00000167136.6|ENSG00000198917.7|ENSG00000167136.6|ENSG00000167136.6|ENSG00000198917.7|ENSG00000198917.7|ENSG00000167136.6|ENSG00000175287.14|ENSG00000167136.6|ENSG00000167136.6|ENSG00000167136.6|ENSG00000167136.6|ENSG00000167136.6|ENSG00000167136.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.3256 0.6900 0.2330 0.3275 0.3722 0.2195 0.2875 0.3275 0.4309 0.3903 0.6834 0.2625 0.3079 0.3834 0.2119 0.2784 0.2767 het 1028.26 85 9 131588888 . G C 1028.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.193;DP=85;Dels=0.00;FS=0.814;HRun=0;HaplotypeScore=2.9718;MQ=58.44;MQ0=0;MQRankSum=0.409;QD=12.10;ReadPosRankSum=1.182;VQSLOD=5.6466;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,43:85:99:1058,0,1086 9 131670919 131670919 T C exonic LRRC8A synonymous SNV LRRC8A:NM_001127245:exon2:c.T1476C:p.R492R,LRRC8A:NM_001127244:exon3:c.T1476C:p.R492R,LRRC8A:NM_019594:exon3:c.T1476C:p.R492R 0.57 0.23 0.74 0.67 0.72 0.66 0.6944 0.3153 0.7949 0.6903 0.8035 0.7286 0.7213 0.6694 0.59 0.31 0.72 0.59 0.61 rs3750319 . . Benign not_specified RCV000455788.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7052 0.2941 0.7955 0.7352 0.6831 0.8041 0.7219 0.7210 0.6747 0.6146 0.3028 0.7763 0.7219 0.6617 0.8113 0.7256 0.7454 het 522.08 39 9 131670919 . T C 522.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.759;DP=39;Dels=0.00;FS=2.944;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.438;QD=13.39;ReadPosRankSum=-1.168;VQSLOD=6.3236;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,19:39:99:552,0,534 9 131670952 131670952 C T exonic LRRC8A synonymous SNV LRRC8A:NM_001127245:exon2:c.C1509T:p.T503T,LRRC8A:NM_001127244:exon3:c.C1509T:p.T503T,LRRC8A:NM_019594:exon3:c.C1509T:p.T503T 0.031 0.0015 0.04 0.054 0.042 0.028 0.0367 0.0054 0.0861 0.0771 0.0704 0.0266 0.0387 0.0259 0.02 0.007 0.026 0.043 0.057 rs3750318 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0392 0.0045 0.0797 0.0138 0.0719 0.0699 0.0272 0.0326 0.0239 0.0307 0.0066 0.0525 0.0265 0.0600 0.0661 0.0311 0.0468 het 604.01 58 9 131670952 . C T 604.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.285;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8633;MQ=60.00;MQ0=0;MQRankSum=0.073;QD=10.41;ReadPosRankSum=0.838;VQSLOD=6.0144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,23:58:99:634,0,905 9 131696121 131696121 G A exonic PHYHD1 nonsynonymous SNV PHYHD1:NM_001100877:exon3:c.G253A:p.V85I,PHYHD1:NM_001100876:exon5:c.G253A:p.V85I,PHYHD1:NM_174933:exon5:c.G253A:p.V85I . . . . . . 2.471e-05 0 0 0 0 4.495e-05 0 0 . . . . . rs756034640 . . . . . . . . . . . . . 0.007 0.599 D 0.999 0.764 D 0.956 0.680 D 0.000 0.843 D 1 0.810 D 2.76 0.809 M -2.67 0.903 D -0.95 0.260 N 0.452 0.505 0.890 0.955 D 0.850 0.950 D 0.079 0.732 D 6.754 0.921 32 0.999 0.960 0.976 0.753 D c 0.811 0.768 1.000 0.747 0.706 0.609 0 5.2 0.716 7.308 0.781 0.949 0.536 1.000 0.715 0.998 0.697 17.336 0.871 . . . 3.655e-05 0 8.933e-05 0 0 0 4.476e-05 0.0002 0 . . . . . . . . het 2239.83 178 9 131696121 . G A 2239.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.252;DP=178;Dels=0.00;FS=1.181;HRun=0;HaplotypeScore=1.8893;MQ=59.06;MQ0=0;MQRankSum=-1.251;QD=12.58;ReadPosRankSum=3.165;VQSLOD=2.8443;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,89:178:99:2270,0,2210 9 131767668 131767668 A C exonic NUP188 synonymous SNV NUP188:NM_015354:exon40:c.A4596C:p.S1532S 0.45 0.47 0.5 0.41 0.47 0.42 0.4313 0.4559 0.5276 0.3817 0.4421 0.4226 0.4196 0.4058 0.43 0.46 0.41 0.48 0.3 rs2287363 . . Benign not_specified RCV000455292.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4351 0.4569 0.5181 0.3917 0.3885 0.4394 0.4267 0.4252 0.4028 0.4386 0.4574 0.5203 0.4 0.3996 0.4280 0.4315 0.4243 het 1297.32 87 9 131767668 . A C 1297.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.393;DP=87;Dels=0.00;FS=0.840;HRun=1;HaplotypeScore=5.9158;MQ=59.25;MQ0=0;MQRankSum=-0.047;QD=14.91;ReadPosRankSum=-2.366;VQSLOD=4.1834;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,42:87:99:1327,0,1342 9 131860901 131860901 G T exonic CRAT nonsynonymous SNV CRAT:NM_000755:exon9:c.C1114A:p.L372M,CRAT:NM_001346547:exon9:c.C1114A:p.L372M,CRAT:NM_001346549:exon9:c.C994A:p.L332M,CRAT:NM_001257363:exon10:c.C1051A:p.L351M,CRAT:NM_001346546:exon10:c.C1117A:p.L373M,CRAT:NM_001346548:exon10:c.C1051A:p.L351M,CRAT:NM_004003:exon10:c.C1051A:p.L351M 1. 0.99 1. 1. 1. 1. 0.9987 0.9864 0.9992 1 1 1.0000 1 0.9999 1. 0.99 1. 0.99 1. rs3118635 COSM4163404 1(bone);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1 0.090 P -0.49 0.026 N -2.45 0.889 D 0.81 0.018 N 0.271 0.329 -0.935 0.434 T 0.000 0.000 T . . . 1.487 0.241 13.24 0.898 0.185 0.034 0.085 N c -0.456 -0.220 1.000 0.467 0.732 0.924 0 5.13 0.696 4.435 0.594 0.088 0.194 1.000 0.715 0.998 0.697 11.667 0.505 . . . 0.9990 0.9860 0.9992 1 1 1.0000 1.0000 0.9998 0.9999 0.9962 0.9867 1 1 1 1 0.9999 0.9990 hom 5086.65 151 9 131860901 . G T 5086.65 Mask AC=2;AF=1.00;AN=2;DP=151;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6611;MQ=59.01;MQ0=0;QD=33.69;VQSLOD=9.0769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:5086,409,0 9 131909736 131909736 C T exonic PTPA nonsynonymous SNV PTPA:NM_001271832:exon9:c.C878T:p.S293L,PTPA:NM_178003:exon9:c.C839T:p.S280L,PTPA:NM_001193397:exon10:c.C860T:p.S287L,PTPA:NM_178000:exon10:c.C965T:p.S322L,PTPA:NM_021131:exon11:c.C965T:p.S322L,PTPA:NM_178001:exon11:c.C1070T:p.S357L 0.079 0.0015 0.037 0.19 0.067 0.12 0.0808 0.0157 0.0430 0.2021 0.0776 0.0751 0.0725 0.1096 0.056 0.02 0.074 0.054 0.049 rs2480452 COSM4419520 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.016 0.538 D 0.993 0.647 D 0.686 0.558 P 0.003 0.362 N 0.000 0.524 P 2.42 0.702 M 1.94 0.453 T -2.22 0.555 N 0.073 0.195 -1.099 0.042 T 0.000 0.001 T . . . 4.203 0.563 23.9 0.998 0.910 0.913 0.530 D c 0.213 0.140 1.000 0.747 0.719 0.830 0 4.26 0.497 4.226 0.582 0.931 0.441 0.972 0.342 0.089 0.185 12.751 0.565 . ENSG00000268707.1|ENSG00000268707.1|ENSG00000119383.15|ENSG00000268707.1|ENSG00000119383.15|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000119383.15|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000119383.15|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000234055.1|ENSG00000119383.15|ENSG00000095321.12|ENSG00000167130.13|ENSG00000268707.1|ENSG00000095321.12|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000119383.15|ENSG00000268707.1|ENSG00000119383.15|ENSG00000268707.1|ENSG00000268707.1|ENSG00000119383.15|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000268707.1|ENSG00000119383.15|ENSG00000268707.1|ENSG00000095321.12|ENSG00000268707.1|ENSG00000119383.15|ENSG00000268707.1 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.0808 0.0152 0.0461 0.0689 0.2041 0.0788 0.0756 0.0710 0.1077 0.0672 0.0149 0.0549 0.0828 0.2407 0.0784 0.0756 0.0845 het 1342.45 91 9 131909736 . C T 1342.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.520;DP=91;Dels=0.00;FS=0.923;HRun=1;HaplotypeScore=6.3572;MQ=59.27;MQ0=0;MQRankSum=-0.186;QD=14.75;ReadPosRankSum=1.011;VQSLOD=4.8263;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:33,58:91:99:1372,0,652 9 132377900 132377900 C T exonic C9orf50 nonsynonymous SNV C9orf50:NM_199350:exon4:c.G743A:p.R248K 0.56 0.71 0.52 0.5 0.45 0.54 0.4801 0.6730 0.5097 0.4972 0.5164 0.4190 0.4966 0.5632 0.48 0.67 0.39 0.62 0.41 rs918165 COSM3763669 1(liver);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.504 0.051 N 1 0.090 P -0.46 0.027 N 2.45 0.150 T 0.68 0.022 N 0.039 0.019 -0.973 0.367 T 0.000 0.000 T . . . -1.456 0.018 0.003 0.740 0.102 0.004 0.020 N c -1.678 -1.673 1.000 0.517 0.497 0.185 0 -0.718 0.106 -1.013 0.037 -0.453 0.056 0.002 0.151 0.002 0.062 3.890 0.086 Domain of unknown function DUF4685 ENSG00000148331.7|ENSG00000148335.10|ENSG00000148331.7 Adipose_Subcutaneous|Esophagus_Mucosa|Whole_Blood 0.4723 0.6813 0.4962 0.4512 0.4805 0.5086 0.4108 0.4690 0.5501 0.5133 0.6835 0.4773 0.4768 0.4660 0.5123 0.4250 0.4684 het 967.02 99 9 132377900 . C T 967.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.276;DP=99;Dels=0.00;FS=5.592;HRun=1;HaplotypeScore=2.7396;MQ=58.82;MQ0=0;MQRankSum=1.665;QD=9.77;ReadPosRankSum=-0.197;VQSLOD=4.2761;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,39:99:99:997,0,1698 9 132400480 132400480 G A exonic ASB6 synonymous SNV ASB6:NM_001202403:exon5:c.C768T:p.A256A,ASB6:NM_017873:exon6:c.C855T:p.A285A 0.46 0.32 0.49 0.51 0.56 0.48 0.5323 0.3616 0.4933 0.5233 0.5011 0.5852 0.5144 0.4713 0.53 0.37 0.61 0.35 0.52 rs3739851 COSM5352071 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5339 0.3530 0.5027 0.5562 0.5358 0.5032 0.5901 0.5325 0.4682 0.5011 0.3487 0.5227 0.5232 0.5613 0.5011 0.5790 0.5408 het 1111.14 68 9 132400480 . G A 1111.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.513;DP=68;Dels=0.00;FS=4.891;HRun=0;HaplotypeScore=3.7152;MQ=59.66;MQ0=0;MQRankSum=0.584;QD=16.34;ReadPosRankSum=1.517;VQSLOD=4.9060;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,36:68:99:1141,0,837 9 132402908 132402908 C G exonic ASB6 synonymous SNV ASB6:NM_001202403:exon2:c.G207C:p.V69V,ASB6:NM_017873:exon2:c.G207C:p.V69V,ASB6:NM_177999:exon2:c.G207C:p.V69V 0.93 0.9 0.94 0.91 0.98 0.95 0.9655 0.9086 0.9438 0.9082 0.9832 0.9847 0.9790 0.9611 0.96 0.91 0.99 0.91 0.96 rs2241247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9669 0.9093 0.9480 0.9945 0.9116 0.9820 0.9841 0.9710 0.9640 0.9620 0.9143 0.9487 0.9901 0.9247 0.9851 0.9878 0.9735 hom 3186.76 101 9 132402908 . C G 3186.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.595;DP=101;Dels=0.00;FS=3.872;HRun=0;HaplotypeScore=4.9258;MQ=59.74;MQ0=0;MQRankSum=1.664;QD=31.55;ReadPosRankSum=1.458;VQSLOD=3.5986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,100:101:99:3220,219,0 9 132569532 132569532 C T exonic TOR1B synonymous SNV TOR1B:NM_001317893:exon3:c.C531T:p.D177D,TOR1B:NM_014506:exon3:c.C531T:p.D177D 0.008 0.0008 0.019 0.001 0.024 0.001 0.0100 0.0036 0.0117 0 0.0038 0.0149 0.0099 0.0005 0.015 0.0036 0.02 0.011 0.041 rs16936946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0102 0.0027 0.0122 0.0027 0 0.0031 0.0169 0.0093 0.0004 0.0094 0.0041 0.0203 0 0 0.0023 0.0148 0.0082 het 1809.41 163 9 132569532 . C T 1809.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.536;DP=163;Dels=0.00;FS=3.116;HRun=0;HaplotypeScore=2.5644;MQ=58.74;MQ0=0;MQRankSum=1.070;QD=11.10;ReadPosRankSum=0.419;VQSLOD=5.4238;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,71:163:99:1839,0,2683 9 132569553 132569553 C T exonic TOR1B synonymous SNV TOR1B:NM_001317893:exon3:c.C552T:p.P184P,TOR1B:NM_014506:exon3:c.C552T:p.P184P 0.17 0.054 0.28 0.029 0.32 0.23 0.2845 0.0874 0.2763 0.0252 0.3531 0.3492 0.3013 0.2604 0.25 0.085 0.33 0.22 0.36 rs1043178 COSM3763670 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2878 0.0831 0.2834 0.2877 0.0242 0.3545 0.3503 0.3055 0.2642 0.2609 0.0827 0.3103 0.3179 0.0167 0.3523 0.3622 0.3184 het 3850.52 193 9 132569553 . C T 3850.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.692;DP=193;Dels=0.00;FS=2.504;HRun=0;HaplotypeScore=10.4805;MQ=58.67;MQ0=0;MQRankSum=0.433;QD=19.95;ReadPosRankSum=0.066;VQSLOD=2.4310;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,112:193:99:3321,0,1999 9 132585058 132585058 G A exonic TOR1A synonymous SNV TOR1A:NM_000113:exon2:c.C246T:p.A82A 0.23 0.22 0.21 0.21 0.28 0.21 0.2275 0.2217 0.1777 0.2074 0.2421 0.2411 0.2401 0.2149 0.23 0.22 0.24 0.18 0.15 rs2296793 COSM150726 1(haematopoietic_and_lymphoid_tissue);1(stomach) Benign|Likely benign not_specified|Dystonia_1 RCV000242539.1|RCV000298379.1 MedGen|MedGen:OMIM CN169374|C1851945:128100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2237 0.2221 0.1746 0.2261 0.2024 0.2387 0.2409 0.2352 0.2137 0.2253 0.2167 0.1909 0.2333 0.1823 0.2377 0.2324 0.2464 het 2587.54 169 9 132585058 . G A 2587.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.408;DP=169;DS;Dels=0.00;FS=2.948;HRun=0;HaplotypeScore=3.9793;MQ=59.61;MQ0=0;MQRankSum=2.707;QD=15.31;ReadPosRankSum=-0.270;VQSLOD=4.3027;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,92:169:99:2618,0,2142 9 132591509 132591509 A G exonic C9orf78 synonymous SNV C9orf78:NM_016520:exon8:c.T753C:p.G251G 0.24 0.22 0.21 0.21 0.27 0.27 0.2424 0.2237 0.1792 0.2068 0.2412 0.2528 0.2534 0.2751 0.24 0.23 0.25 0.18 0.11 rs3818553 COSM150727 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 0.223 0.115 4.917 0.570 0.055 0.085 0.142 N c -1.305 -1.505 1.000 0.747 0.707 0.730 0 -11.9 0.000 -2.908 0.008 -0.517 0.050 0.000 0.063 0.974 0.471 6.555 0.215 . ENSG00000136819.10|ENSG00000136827.11|ENSG00000136819.10|ENSG00000136816.11|ENSG00000136819.10|ENSG00000136816.11|ENSG00000136878.8|ENSG00000136827.11|ENSG00000136816.11|ENSG00000136827.11|ENSG00000136816.11|ENSG00000136819.10|ENSG00000136816.11|ENSG00000136827.11|ENSG00000136819.10|ENSG00000136816.11|ENSG00000136819.10|ENSG00000136827.11|ENSG00000136819.10|ENSG00000136819.10|ENSG00000136819.10|ENSG00000136819.10|ENSG00000136816.11|ENSG00000136827.11|ENSG00000136819.10|ENSG00000136878.8|ENSG00000136827.11|ENSG00000136819.10|ENSG00000136878.8|ENSG00000136819.10|ENSG00000136827.11|ENSG00000136816.11|ENSG00000136878.8|ENSG00000136827.11|ENSG00000136819.10|ENSG00000136878.8|ENSG00000136819.10|ENSG00000136827.11|ENSG00000136819.10|ENSG00000136819.10|ENSG00000136827.11|ENSG00000136819.10|ENSG00000136827.11|ENSG00000136816.11|ENSG00000136819.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.2357 0.2216 0.1762 0.2767 0.2011 0.2327 0.2469 0.2463 0.2739 0.2285 0.2175 0.1814 0.2781 0.1821 0.2308 0.2390 0.2598 het 538.09 44 9 132591509 . A G 538.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.425;DP=44;Dels=0.00;FS=4.268;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-0.036;QD=12.23;ReadPosRankSum=0.887;VQSLOD=6.2539;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,22:44:99:568,0,536 9 132597021 132597021 C T exonic C9orf78 synonymous SNV C9orf78:NM_016520:exon2:c.G108A:p.E36E 0.23 0.2 0.21 0.21 0.28 0.27 0.2402 0.2051 0.1794 0.2075 0.2375 0.2522 0.2533 0.2740 0.24 0.21 0.25 0.17 0.16 rs3814547 COSM150728 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2348 0.2036 0.1750 0.2751 0.2003 0.2324 0.2479 0.2465 0.2738 0.2236 0.2002 0.1826 0.2781 0.1823 0.2314 0.2389 0.2571 het 2116.54 159 9 132597021 . C T 2116.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.777;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.88;MQ0=0;MQRankSum=-0.451;QD=13.31;ReadPosRankSum=-0.134;VQSLOD=6.8654;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,83:159:99:2147,0,1929 9 132620364 132620364 T C exonic USP20 synonymous SNV USP20:NM_001008563:exon5:c.T171C:p.F57F,USP20:NM_001110303:exon5:c.T171C:p.F57F,USP20:NM_006676:exon5:c.T171C:p.F57F 0.88 0.73 0.92 1. 0.92 0.91 0.9154 0.7665 0.9546 0.9968 0.9486 0.9144 0.9144 0.9245 0.86 0.79 0.9 0.9 0.9 rs10819568 COSM4163409;COSM4163410;COSM4163408 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9169 0.7592 0.9431 0.8834 0.9970 0.9494 0.9130 0.9156 0.9233 0.8878 0.7756 0.9427 0.8733 0.9969 0.9423 0.9237 0.9196 hom 5153.67 175 9 132620364 . T C 5153.67 Mask AC=2;AF=1.00;AN=2;DP=175;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3984;MQ=59.76;MQ0=0;QD=29.45;VQSLOD=8.7357;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5152,448,0 9 132623293 132623293 C T exonic USP20 synonymous SNV USP20:NM_001008563:exon7:c.C408T:p.D136D,USP20:NM_001110303:exon7:c.C408T:p.D136D,USP20:NM_006676:exon7:c.C408T:p.D136D 0.87 0.73 0.9 0.98 0.91 0.89 0.9009 0.7610 0.9476 0.9776 0.9439 0.8985 0.9089 0.9029 0.85 0.78 0.89 0.9 0.89 rs1503375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9022 0.7554 0.9355 0.8657 0.9787 0.9450 0.8953 0.9021 0.9014 0.8778 0.7705 0.9391 0.8533 0.9790 0.9370 0.9105 0.9080 hom 5793.02 173 9 132623293 . C T 5793.02 Mask AC=2;AF=1.00;AN=2;DP=173;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7117;MQ=59.25;MQ0=0;QD=33.49;VQSLOD=8.2647;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,172:173:99:5792,472,0 9 132623868 132623868 T C exonic USP20 synonymous SNV USP20:NM_001008563:exon8:c.T474C:p.A158A,USP20:NM_001110303:exon8:c.T474C:p.A158A,USP20:NM_006676:exon8:c.T474C:p.A158A 0.88 0.73 0.92 1. 0.92 0.91 0.9153 0.7654 0.9542 0.9968 0.9486 0.9144 0.9143 0.9245 0.86 0.78 0.9 0.9 0.81 rs10115249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9168 0.7585 0.9429 0.8834 0.9970 0.9494 0.9129 0.9154 0.9233 0.8876 0.7746 0.9427 0.8742 0.9969 0.9421 0.9238 0.9194 hom 3379.61 116 9 132623868 . T C 3379.61 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7870;MQ=58.38;MQ0=0;QD=29.13;VQSLOD=7.2843;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:116:99:3339,286,0 9 132630665 132630667 GAC - exonic USP20 nonframeshift deletion USP20:NM_001008563:exon11:c.1072_1074del:p.D359del,USP20:NM_001110303:exon11:c.1072_1074del:p.D359del,USP20:NM_006676:exon11:c.1072_1074del:p.D359del 0.85 0.64 0.9 0.98 0.91 0.89 0.8939 0.6719 0.9427 0.9781 0.9437 0.8982 0.9119 0.9029 0.81 0.67 0.88 0.022 . rs766616309 COSM1105894;COSM1105893;COSM1105896 6(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8957 0.6599 0.9312 0.8636 0.9789 0.9452 0.8948 0.8982 0.9011 0.8511 0.6781 0.9320 0.8510 0.9789 0.9372 0.9093 0.9020 hom 4202.33 91 9 132630664 . TGAC T 4202.33 Mask AC=2;AF=1.00;AN=2;DP=91;FS=0.000;HRun=0;HaplotypeScore=411.4951;MQ=56.95;MQ0=0;QD=46.18;set=variant2 GT:AD:DP:GQ:PL 1/1:7,84:91:99:4202,256,0 9 132631680 132631680 T C exonic USP20 synonymous SNV USP20:NM_001008563:exon13:c.T1368C:p.L456L,USP20:NM_001110303:exon13:c.T1368C:p.L456L,USP20:NM_006676:exon13:c.T1368C:p.L456L 0.89 0.75 0.92 1. 0.92 0.91 0.9168 0.7792 0.9541 0.9967 0.9486 0.9147 0.9155 0.9245 0.87 0.8 0.9 0.91 0.87 rs6478920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9182 0.7701 0.9442 0.8834 0.9970 0.9493 0.9134 0.9160 0.9233 0.8900 0.7833 0.9439 0.8709 0.9969 0.9422 0.9238 0.9214 hom 5057.49 177 9 132631680 . T C 5057.49 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8948;MQ=58.99;MQ0=0;QD=28.57;VQSLOD=7.2693;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5056,418,0 9 132637712 132637712 G A exonic USP20 synonymous SNV USP20:NM_001008563:exon20:c.G2172A:p.A724A,USP20:NM_001110303:exon20:c.G2172A:p.A724A,USP20:NM_006676:exon20:c.G2172A:p.A724A 0.21 0.051 0.25 0.19 0.41 0.2 0.3127 0.0918 0.2086 0.1878 0.4081 0.3887 0.3579 0.2348 0.28 0.094 0.36 0.17 0.33 rs735115 COSM3982751;COSM3982750;COSM3982749 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3093 0.0866 0.2067 0.4213 0.1800 0.4077 0.3797 0.3472 0.2365 0.2886 0.0926 0.2291 0.4470 0.1600 0.4083 0.3829 0.3824 hom 2461.12 70 9 132637712 . G A 2461.12 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.01;MQ0=0;QD=35.16;VQSLOD=9.9523;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2494,199,0 9 132686186 132686186 A G exonic FNBP1 synonymous SNV FNBP1:NM_015033:exon10:c.T1107C:p.H369H 1. 1. 1. 1. 1. 1. 0.9997 0.9960 0.9996 1 1 1 1 1 1. 1. 1. 1. . rs4836680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9957 0.9998 1 1 1.0000 1 0.9998 1 0.9984 0.9945 0.9988 1 1 1 1 0.9989 hom 407.72 14 9 132686186 . A G 407.72 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.12;VQSLOD=13.1151;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:33.11:441,33,0 9 132988709 132988709 T G exonic NCS1 synonymous SNV NCS1:NM_001128826:exon7:c.T462G:p.G154G,NCS1:NM_014286:exon7:c.T516G:p.G172G 0.31 0.47 0.47 0.14 0.31 0.18 0.3265 0.4449 0.5452 0.1727 0.2399 0.3316 0.2953 0.1948 0.37 0.43 0.33 0.39 0.34 rs2277200 COSM150729;COSM5619153 1(breast);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3282 0.4442 0.5259 0.3598 0.1682 0.2416 0.3294 0.3319 0.1920 0.3487 0.4468 0.5084 0.3490 0.1629 0.2440 0.3306 0.2971 het 872.96 74 9 132988709 . T G 872.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.664;DP=74;Dels=0.00;FS=2.059;HRun=3;HaplotypeScore=1.9883;MQ=59.50;MQ0=0;MQRankSum=1.201;QD=11.80;ReadPosRankSum=-0.885;VQSLOD=6.5755;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,35:74:99:903,0,980 9 133346226 133346226 C T exonic ASS1 synonymous SNV ASS1:NM_054012:exon7:c.C501T:p.H167H,ASS1:NM_000050:exon8:c.C501T:p.H167H 0.11 0.11 0.086 0.038 0.15 0.14 0.1148 0.1150 0.0614 0.0277 0.1946 0.1254 0.1300 0.1217 0.12 0.12 0.13 0.087 0.082 rs10901072 COSM3763676 1(large_intestine) other|Likely benign not_specified|Citrullinemia_type_I RCV000078021.9|RCV000276414.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0175683:215700:ORPHA187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1151 0.1148 0.0687 0.1159 0.0282 0.1994 0.1242 0.1185 0.1196 0.1201 0.1118 0.0955 0.1093 0.0321 0.1860 0.1196 0.1380 het 2765.04 250 9 133346226 . C T 2765.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.296;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1425;MQ=59.63;MQ0=0;MQRankSum=0.512;QD=11.06;ReadPosRankSum=0.571;VQSLOD=4.1599;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:142,108:250:99:2795,0,3797 9 133553993 133553993 C T exonic PRDM12 synonymous SNV PRDM12:NM_021619:exon4:c.C648T:p.P216P 0.38 0.33 0.45 0.47 0.32 0.35 0.3546 0.3538 0.4408 0.4777 0.3429 0.3247 0.3811 0.3542 0.33 0.35 0.32 0.38 0.32 rs7021384 COSM4007072 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3554 0.3494 0.4333 0.3403 0.4735 0.3414 0.3194 0.3673 0.3514 0.3322 0.3499 0.4165 0.2980 0.4851 0.3413 0.3 0.3211 het 1649.94 131 9 133553993 . C T 1649.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.160;DP=131;Dels=0.00;FS=2.533;HRun=0;HaplotypeScore=1.7262;MQ=58.20;MQ0=0;MQRankSum=0.047;QD=12.59;ReadPosRankSum=0.289;VQSLOD=5.7026;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,61:131:99:1680,0,1629 9 133755528 133755528 A G exonic ABL1 synonymous SNV ABL1:NM_005157:exon9:c.A1497G:p.E499E,ABL1:NM_007313:exon9:c.A1554G:p.E518E 0.086 0.21 0.084 0.001 0.07 0.029 0.0663 0.1832 0.0449 0 0.0318 0.0745 0.0529 0.0234 0.11 0.17 0.074 0.13 0.098 rs2227985 COSM5021129;COSM5021130;COSM5021128 1(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0625 0.1777 0.0482 0.0690 0 0.0339 0.0761 0.0686 0.0245 0.0928 0.1694 0.0478 0.0629 0 0.0372 0.0765 0.0612 het 1759.70 129 9 133755528 . A G 1759.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.460;DP=129;Dels=0.00;FS=0.671;HRun=0;HaplotypeScore=0.6651;MQ=59.07;MQ0=0;MQRankSum=1.922;QD=13.64;ReadPosRankSum=0.064;VQSLOD=6.1459;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,68:129:99:1790,0,1566 9 133760029 133760029 C G exonic ABL1 synonymous SNV ABL1:NM_005157:exon11:c.C2352G:p.P784P,ABL1:NM_007313:exon11:c.C2409G:p.P803P 0.11 0.28 0.086 0.001 0.07 0.031 0.0719 0.2516 0.0486 0 0.0322 0.0748 0.0589 0.0240 0.12 0.22 0.072 0.16 0.09 rs2229070 COSM3720675;COSM3720677;COSM3720676 1(soft_tissue);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0663 0.2420 0.0512 0.0688 0 0.0337 0.0749 0.0712 0.0248 0.1093 0.2303 0.0526 0.0629 0 0.0367 0.0745 0.0645 het 695.59 53 9 133760029 . C G 695.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.048;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6557;MQ=60.00;MQ0=0;MQRankSum=-0.507;QD=13.12;ReadPosRankSum=-0.614;VQSLOD=5.3893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,26:53:99:726,0,775 9 133761001 133761001 A G exonic ABL1 synonymous SNV ABL1:NM_005157:exon11:c.A3324G:p.P1108P,ABL1:NM_007313:exon11:c.A3381G:p.P1127P 0.65 0.88 0.7 0.6 0.49 0.55 0.5490 0.8297 0.7403 0.5973 0.4780 0.4814 0.5433 0.5172 0.58 0.82 0.47 0.56 0.46 rs1056171 COSM5019122;COSM5019120;COSM5019121 1(haematopoietic_and_lymphoid_tissue);16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5495 0.8319 0.7331 0.5063 0.6026 0.4836 0.4747 0.5453 0.5129 0.5911 0.8308 0.6969 0.5099 0.6222 0.4923 0.4716 0.5184 hom 2578.34 79 9 133761001 . A G 2578.34 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=60.00;MQ0=0;QD=32.64;VQSLOD=9.2139;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2611,217,0 9 133769169 133769169 G A exonic QRFP synonymous SNV QRFP:NM_198180:exon3:c.C57T:p.F19F 0.36 0.74 0.29 0.071 0.25 0.28 0.2836 0.6792 0.2392 0.0533 0.2080 0.2671 0.2681 0.2869 0.39 0.65 0.26 0.38 0.28 rs3847193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2722 0.6778 0.2555 0.3153 0.0555 0.2124 0.2613 0.2731 0.2646 0.3573 0.6594 0.2995 0.3245 0.0531 0.2155 0.2580 0.2572 het 755.96 102 9 133769169 . G A 755.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.784;DP=102;Dels=0.00;FS=8.341;HRun=2;HaplotypeScore=4.5880;MQ=59.20;MQ0=0;MQRankSum=-0.226;QD=7.41;ReadPosRankSum=1.427;VQSLOD=3.5436;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,34:102:99:786,0,1792 9 133911706 133911706 C T exonic LAMC3 synonymous SNV LAMC3:NM_006059:exon4:c.C963T:p.A321A 0.4 0.16 0.49 0.66 0.48 0.29 0.4558 0.2175 0.5417 0.6522 0.4151 0.4893 0.4442 0.3139 0.4 0.22 0.49 0.37 0.49 rs2275131 COSM455480 1(liver) Likely benign not_specified RCV000117484.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4597 0.2015 0.5376 0.5201 0.6546 0.4179 0.4835 0.4812 0.3141 0.3979 0.2055 0.4916 0.5 0.6687 0.4194 0.4666 0.4270 hom 1300.34 39 9 133911706 . C T 1300.34 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5184;MQ=57.09;MQ0=0;QD=33.34;VQSLOD=5.8753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1333,111,0 9 133914570 133914570 G A exonic LAMC3 synonymous SNV LAMC3:NM_006059:exon6:c.G1218A:p.T406T 0.15 0.11 0.21 0.14 0.24 0.1 0.2118 0.1183 0.2104 0.1509 0.2397 0.2508 0.2095 0.1352 0.21 0.11 0.25 0.13 0.23 rs2293518 COSM1180464 1(liver);1(prostate) Likely benign not_specified RCV000117456.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2131 0.1147 0.2118 0.2711 0.1508 0.2370 0.2486 0.2247 0.1336 0.1984 0.1155 0.2189 0.27 0.1395 0.2480 0.2372 0.2251 hom 2971.03 88 9 133914570 . G A 2971.03 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.79;MQ0=0;QD=33.76;VQSLOD=9.7186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:3004,232,0 9 133927878 133927878 A G exonic LAMC3 nonsynonymous SNV LAMC3:NM_006059:exon10:c.A1631G:p.E544G 0.47 0.55 0.33 0.43 0.5 0.48 0.4592 0.5230 0.2769 0.4514 0.5145 0.4764 0.4130 0.4624 0.49 0.53 0.48 0.59 0.39 rs10901333 COSM3763679 1(pancreas);1(large_intestine) Likely benign not_specified RCV000117459.2 MedGen CN169374 . . . . . . 0.138 0.258 T 0.022 0.174 B 0.071 0.265 B 0.000 0.504 D 0.152 0.352 P 2.365 0.684 M 1.13 0.386 T -3.57 0.690 D 0.043 0.225 -0.926 0.447 T 0.000 0.000 T . . . 2.445 0.355 19.11 0.989 0.479 0.884 0.480 D c -0.244 -0.155 1.000 0.747 0.615 0.352 0 4.25 0.495 1.458 0.346 1.199 0.960 1.000 0.715 0.995 0.604 6.624 0.219 Laminin IV ENSG00000050555.13 Whole_Blood 0.4481 0.5235 0.2825 0.3866 0.4574 0.5071 0.4766 0.4308 0.4628 0.4865 0.5247 0.3282 0.3808 0.4597 0.5034 0.4746 0.4816 het 1422.57 138 9 133927878 . A G 1422.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.472;DP=138;Dels=0.00;FS=4.168;HRun=1;HaplotypeScore=0.9469;MQ=59.46;MQ0=0;MQRankSum=-0.234;QD=10.31;ReadPosRankSum=-0.290;VQSLOD=6.3407;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,60:138:99:1453,0,2018 9 133928345 133928345 C T exonic LAMC3 synonymous SNV LAMC3:NM_006059:exon11:c.C1932T:p.S644S 0.48 0.62 0.33 0.42 0.46 0.47 0.4496 0.5842 0.2741 0.4476 0.4903 0.4542 0.4024 0.4581 0.49 0.58 0.45 0.61 0.3 rs12349966 COSM3763680 1(kidney);1(liver);1(large_intestine) Likely benign not_specified RCV000117461.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4315 0.5773 0.2726 0.3498 0.4521 0.4820 0.4492 0.4129 0.4542 0.4824 0.5836 0.3134 0.3543 0.4516 0.4805 0.4410 0.4548 het 591.84 46 9 133928345 . C T 591.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.041;DP=46;Dels=0.00;FS=2.143;HRun=0;HaplotypeScore=0.9987;MQ=57.65;MQ0=0;MQRankSum=0.654;QD=12.87;ReadPosRankSum=0.521;VQSLOD=4.7948;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,26:46:99:622,0,597 9 133936571 133936571 C G exonic LAMC3 nonsynonymous SNV LAMC3:NM_006059:exon13:c.C2308G:p.R770G 0.79 0.97 0.69 0.55 0.85 0.78 0.8073 0.9497 0.6704 0.5794 0.8632 0.8357 0.8092 0.7941 0.87 0.94 0.83 0.92 0.76 rs3739510 COSM3763681 1(liver);2(large_intestine) Likely benign not_specified RCV000117463.2 MedGen CN169374 . . . . . . 0.702 0.041 T 0.0 0.026 B 0.003 0.080 B 0.008 0.311 N 1.000 0.200 P -1.575 0.004 N 0.05 0.619 T 3.1 0.001 N 0.021 0.005 -1.001 0.296 T 0.000 0.000 T . . . 1.174 0.207 11.61 0.723 0.096 0.033 0.082 N c -1.349 -1.208 1.000 0.473 0.646 0.450 0 -0.33 0.120 -0.879 0.043 -0.234 0.093 0.000 0.063 0.004 0.083 7.284 0.253 Laminin EGF domain ENSG00000126878.8 Artery_Aorta 0.7972 0.9513 0.6807 0.8290 0.5810 0.8612 0.8303 0.8010 0.7961 0.8559 0.9481 0.6971 0.8344 0.5927 0.8642 0.8388 0.8442 hom 1614.86 50 9 133936571 . C G 1614.86 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8667;MQ=59.16;MQ0=0;QD=32.30;VQSLOD=9.5430;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1648,132,0 9 133946909 133946909 G A exonic LAMC3 synonymous SNV LAMC3:NM_006059:exon18:c.G3108A:p.G1036G 0.29 0.16 0.33 0.19 0.41 0.42 0.3693 0.1890 0.3393 0.1734 0.3873 0.4122 0.4229 0.4236 0.33 0.2 0.41 0.27 0.42 rs10901344 COSM3763682 2(large_intestine) other not_specified RCV000117465.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3739 0.1828 0.3511 0.5574 0.1702 0.3935 0.4039 0.4033 0.4214 0.3347 0.1871 0.3289 0.5397 0.1619 0.4040 0.4153 0.3980 het 1767.20 148 9 133946909 . G A 1767.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.308;DP=148;Dels=0.00;FS=3.087;HRun=0;HaplotypeScore=0.5784;MQ=59.65;MQ0=0;MQRankSum=1.309;QD=11.94;ReadPosRankSum=1.908;VQSLOD=5.9531;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,71:148:99:1797,0,2120 9 133946915 133946915 C G exonic LAMC3 synonymous SNV LAMC3:NM_006059:exon18:c.C3114G:p.L1038L 0.29 0.16 0.33 0.2 0.41 0.42 0.3694 0.1893 0.3397 0.1737 0.3872 0.4122 0.4237 0.4237 0.33 0.2 0.41 0.27 0.42 rs10901345 COSM3763683 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other not_specified RCV000117466.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3739 0.1829 0.3512 0.5575 0.1703 0.3937 0.4037 0.4038 0.4214 0.3348 0.1869 0.3297 0.5397 0.1623 0.4035 0.4154 0.3969 het 1835.39 146 9 133946915 . C G 1835.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.151;DP=146;Dels=0.00;FS=9.115;HRun=0;HaplotypeScore=2.3264;MQ=59.77;MQ0=0;MQRankSum=-0.380;QD=12.57;ReadPosRankSum=1.831;VQSLOD=3.4877;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,69:146:99:1865,0,2089 9 133948049 133948049 A G exonic LAMC3 nonsynonymous SNV LAMC3:NM_006059:exon19:c.A3244G:p.S1082G 0.7 0.56 0.66 0.64 0.86 0.81 0.7931 0.6066 0.6618 0.6455 0.8677 0.8511 0.7981 0.8131 0.77 0.62 0.84 0.77 0.66 rs2275140 COSM455482 3(large_intestine) Likely benign not_specified RCV000117467.2 MedGen CN169374 . . . . . . 0.515 0.074 T 0.0 0.026 B 0.001 0.040 B 0.512 0.118 N 1 0.090 P -1.59 0.004 N 1.64 0.278 T -0.08 0.082 N 0.011 0.001 -1.027 0.215 T 0.000 0.000 T . . . -0.178 0.078 1.221 0.639 0.071 0.004 0.020 N c -1.203 -1.153 1.000 0.747 0.706 0.609 0 2.24 0.271 0.511 0.223 -0.221 0.097 0.035 0.205 0.004 0.083 7.909 0.288 . ENSG00000126878.8 Artery_Aorta 0.7892 0.5907 0.6677 0.9133 0.6466 0.8627 0.8425 0.8043 0.8136 0.7665 0.5990 0.6802 0.9067 0.6517 0.8665 0.8503 0.8378 het 260.07 17 9 133948049 . A G 260.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.452;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=57.77;MQ0=0;MQRankSum=0.151;QD=15.30;ReadPosRankSum=-0.452;VQSLOD=6.5017;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,11:17:99:290,0,119 9 133963008 133963008 G A exonic LAMC3 nonsynonymous SNV LAMC3:NM_006059:exon26:c.G4376A:p.R1459Q 0.16 0.064 0.24 0.083 0.27 0.21 0.2309 0.0804 0.2664 0.0787 0.2300 0.2708 0.2544 0.2187 0.2 0.082 0.27 0.11 0.29 rs4740412 COSM3763685 1(large_intestine) other not_specified RCV000117473.3 MedGen CN169374 . . . . . . 0.57 0.062 T 0.0 0.067 B 0.0 0.013 B 0.164 0.031 N 1 0.090 P -2.005 0.002 N 1.73 0.264 T 0.94 0.015 N 0.036 0.225 -0.983 0.343 T 0.000 0.000 T . . . 0.385 0.131 6.483 0.901 0.188 0.019 0.057 N c -1.869 -1.834 1.000 0.747 0.706 0.609 0 -4.34 0.034 -0.321 0.080 -0.542 0.048 0.001 0.137 0.344 0.245 8.393 0.315 . ENSG00000126878.8|ENSG00000126878.8|ENSG00000126878.8|ENSG00000126878.8|ENSG00000126878.8 Artery_Aorta|Artery_Tibial|Heart_Atrial_Appendage|Testis|Thyroid 0.2370 0.0784 0.2737 0.3586 0.0771 0.2329 0.2664 0.2654 0.2184 0.1963 0.0815 0.2446 0.3477 0.0915 0.2348 0.2565 0.2485 het 1333.91 82 9 133963008 . G A 1333.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.996;DP=82;Dels=0.00;FS=1.951;HRun=0;HaplotypeScore=1.7206;MQ=60.00;MQ0=0;MQRankSum=0.873;QD=16.27;ReadPosRankSum=0.566;VQSLOD=6.2700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,43:82:99:1364,0,1101 9 134020092 134020092 C T exonic NUP214 nonsynonymous SNV NUP214:NM_001318324:exon12:c.C1720T:p.P574S,NUP214:NM_005085:exon12:c.C1720T:p.P574S 0.64 0.66 0.75 0.63 0.68 0.51 0.6641 0.6673 0.7781 0.6226 0.7012 0.6747 0.6763 0.5442 0.67 0.67 0.67 0.63 0.62 rs103612 . . . . . . . . . . . . . 0.225 0.194 T 0.002 0.154 B 0.007 0.121 B 0.480 0.122 N 0.782 0.350 P 1.92 0.515 L 1.51 0.317 T -2.26 0.513 N 0.032 0.175 -0.996 0.309 T 0.000 0.000 T . . . 3.049 0.426 22.4 0.900 0.187 0.275 0.231 N c -0.757 -0.618 1.000 0.425 0.707 0.730 0 1.78 0.238 -0.163 0.099 0.935 0.490 0.023 0.197 0.261 0.230 5.346 0.152 . . . 0.6706 0.6622 0.7797 0.6565 0.6246 0.6996 0.6767 0.6899 0.5394 0.6707 0.6539 0.7572 0.6167 0.6210 0.6907 0.6767 0.6806 hom 2307.84 83 9 134020092 . C T 2307.84 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3135;MQ=58.48;MQ0=0;QD=27.81;VQSLOD=7.5748;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:83:99:2341,187,0 9 134136248 134136248 G A exonic FAM78A synonymous SNV FAM78A:NM_033387:exon2:c.C813T:p.Y271Y 0.087 0.018 0.095 0.013 0.19 0.15 0.1595 0.0518 0.0939 0.0053 0.1565 0.2109 0.1709 0.1457 0.16 0.056 0.22 0.043 0.19 rs9966 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1555 0.0504 0.1037 0.1747 0.0046 0.1567 0.2151 0.1560 0.1439 0.1444 0.0534 0.1148 0.1755 0.0037 0.1557 0.2093 0.1724 het 1725.04 181 9 134136248 . G A 1725.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.014;DP=181;Dels=0.00;FS=2.713;HRun=0;HaplotypeScore=13.8706;MQ=58.81;MQ0=0;MQRankSum=1.356;QD=9.53;ReadPosRankSum=1.148;VQSLOD=2.3489;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,76:181:99:1755,0,2474 9 134136515 134136515 A G exonic FAM78A synonymous SNV FAM78A:NM_033387:exon2:c.T546C:p.N182N 0.92 0.75 0.96 0.98 1. 0.98 0.9721 0.7847 0.9802 0.9622 1 0.9956 0.9791 0.9828 0.93 0.79 1. 0.86 0.9 rs352952 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9762 0.7824 0.9805 0.9717 0.9621 1.0000 0.9967 0.9852 0.9837 0.9328 0.7792 0.9821 0.9702 0.9531 1 0.9975 0.9806 hom 4968.65 146 9 134136515 . A G 4968.65 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9025;MQ=59.68;MQ0=0;QD=34.03;VQSLOD=9.2945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4968,388,0 9 134136677 134136677 A G exonic FAM78A synonymous SNV FAM78A:NM_033387:exon2:c.T384C:p.D128D 0.92 0.75 0.96 0.97 1. 0.98 0.9732 0.7962 0.9804 0.9621 1 0.9956 0.9800 0.9832 0.93 0.8 1. 0.87 0.93 rs352951 COSM5426346;COSM5426344;COSM5426345 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9763 0.7906 0.9807 0.9713 0.9620 1 0.9967 0.9854 0.9842 0.9352 0.7880 0.9820 0.9702 0.9530 1 0.9975 0.9785 hom 1819.31 54 9 134136677 . A G 1819.31 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6809;MQ=60.00;MQ0=0;QD=33.69;VQSLOD=8.8278;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1852,153,0 9 134183379 134183379 C T exonic PLPP7 nonsynonymous SNV PLPP7:NM_032728:exon2:c.C521T:p.T174M 0.62 0.4 0.65 0.73 0.74 0.67 0.6985 0.4492 0.5534 0.6980 0.7721 0.7558 0.7161 0.6938 0.66 0.47 0.75 0.54 0.7 rs2966332 COSM3750159 4(large_intestine) . . . . . . . . . . . 0.208 0.198 T 0.001 0.067 B 0.002 0.063 B 0.001 0.400 N 0.091 0.363 P -0.145 0.044 N -0.9 0.749 T -0.54 0.166 N 0.051 0.032 -0.923 0.452 T 0.000 0.000 T . . . 2.067 0.309 16.64 0.944 0.242 0.637 0.319 D c -0.446 -0.262 1.000 0.747 0.646 0.450 0 3.5 0.390 2.492 0.447 0.004 0.136 1.000 0.715 0.360 0.248 3.845 0.084 Phosphatidic acid phosphatase type 2/haloperoxidase ENSG00000160539.4|ENSG00000160539.4|ENSG00000160539.4 Brain_Cerebellar_Hemisphere|Heart_Left_Ventricle|Muscle_Skeletal 0.6961 0.4438 0.5727 0.7512 0.6941 0.7747 0.7524 0.7227 0.6970 0.6617 0.4590 0.5870 0.7450 0.6935 0.7847 0.7447 0.7423 het 1064.14 66 9 134183379 . C T 1064.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.149;DP=66;Dels=0.00;FS=1.094;HRun=0;HaplotypeScore=1.4105;MQ=57.06;MQ0=0;MQRankSum=1.332;QD=16.12;ReadPosRankSum=1.908;VQSLOD=3.5858;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,39:66:99:1094,0,634 9 134183503 134183503 T C exonic PLPP7 synonymous SNV PLPP7:NM_032728:exon2:c.T645C:p.R215R 0.64 0.44 0.65 0.73 0.74 0.67 0.7011 0.4829 0.5554 0.6996 0.7727 0.7548 0.71 0.6940 0.67 0.5 0.75 0.54 0.7 rs2986606 COSM3763686 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6994 0.4799 0.5755 0.7512 0.6987 0.7729 0.7522 0.7243 0.6985 0.6728 0.4977 0.5873 0.7450 0.6976 0.7840 0.7446 0.7423 het 917.16 64 9 134183503 . T C 917.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.618;DP=64;Dels=0.00;FS=3.524;HRun=0;HaplotypeScore=1.9950;MQ=58.98;MQ0=0;MQRankSum=0.108;QD=14.33;ReadPosRankSum=-0.472;VQSLOD=6.0051;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,35:64:99:947,0,689 9 134334588 134334588 A G exonic PRRC2B nonsynonymous SNV PRRC2B:NM_013318:exon10:c.A1249G:p.M417V 0.058 0.026 0.079 0.006 0.12 0.083 0.0920 0.0461 0.0590 0.0074 0.0791 0.1142 0.1175 0.1005 0.092 0.049 0.11 0.043 . rs34553878 COSM3763687;COSM3763688 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.394 0.107 T 0.0 0.026 B 0.0 0.013 B 0.278 0.150 U 1.000 0.588 D 0.145 0.088 N 4.34 0.024 T -0.85 0.232 N 0.056 0.039 -0.902 0.478 T 0.000 0.000 T . . . -0.597 0.050 0.127 0.593 0.060 0.095 0.151 N c -1.315 -1.401 1.000 0.747 0.719 0.830 0 -11.2 0.001 -1.349 0.027 -0.262 0.088 0.000 0.063 0.912 0.389 0.542 0.006 . . . 0.0917 0.0452 0.0622 0.1536 0.0067 0.0791 0.1135 0.1162 0.1003 0.0820 0.0473 0.0871 0.1788 0.0086 0.0776 0.1082 0.0929 het 2156.30 158 9 134334588 . A G 2156.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.869;DP=158;Dels=0.00;FS=3.711;HRun=0;HaplotypeScore=1.8273;MQ=59.53;MQ0=0;MQRankSum=1.338;QD=13.65;ReadPosRankSum=-0.506;VQSLOD=6.0153;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,87:158:99:2186,0,1748 9 134346315 134346315 T C exonic PRRC2B synonymous SNV PRRC2B:NM_013318:exon13:c.T2052C:p.R684R 0.86 0.7 0.82 0.92 0.92 0.97 0.9087 0.7394 0.8295 0.9249 0.9085 0.9315 0.9060 0.9639 0.88 0.76 0.94 0.81 . rs4310250 COSM4163438;COSM4163437 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9082 0.7308 0.8363 0.9020 0.9207 0.9091 0.9371 0.9080 0.9639 0.8738 0.7406 0.8652 0.8933 0.9398 0.9126 0.9337 0.8922 hom 2116.72 68 9 134346315 . T C 2116.72 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.39;MQ0=0;QD=31.13;VQSLOD=9.0625;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2150,166,0 9 134350323 134350323 C G exonic PRRC2B nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C2807G:p.T936S 0.77 0.53 0.75 0.94 0.77 0.94 0.7965 0.5921 0.7747 0.9325 0.7109 0.7885 0.8071 0.9105 0.74 0.59 0.81 0.73 . rs10736851 . . . . . . . . . . . . . 0.178 0.221 T 0.051 0.210 B 0.008 0.127 B . . . 0.982 0.810 P 2.47 0.719 M 2.94 0.098 T -0.98 0.260 N 0.026 0.008 -1.030 0.205 T 0.000 0.000 T . . . 1.333 0.224 12.44 0.976 0.345 0.933 0.577 D c -0.302 -0.113 1.000 0.747 0.672 0.522 0 4.69 0.584 1.320 0.331 0.935 0.490 0.901 0.312 0.983 0.502 13.941 0.634 . ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000176868.1|ENSG00000130714.11|ENSG00000130717.8|ENSG00000130723.13|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11 Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7926 0.5560 0.7700 0.8024 0.9340 0.7138 0.7905 0.8004 0.9086 0.7160 0.5640 0.7947 0.8179 0.9482 0.7186 0.7720 0.7178 het 134.37 15 9 134350323 . C G 134.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.059;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.120;QD=8.96;ReadPosRankSum=-0.177;VQSLOD=11.0008;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,6:15:99:164,0,204 9 134350458 134350458 C T exonic PRRC2B nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C2942T:p.P981L 0.77 0.52 0.75 0.94 0.77 0.94 0.7910 0.5766 0.7690 0.9380 0.7036 0.7848 0.7911 0.9113 0.74 0.6 0.81 0.73 . rs10751478 . . . . . . . . . . . . . 0.66 0.047 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.1 0.281 L 4.68 0.017 T -0.84 0.229 N 0.054 0.036 -1.018 0.242 T 0.000 0.000 T . . . -1.474 0.017 0.003 0.365 0.023 0.226 0.216 N c -1.640 -1.735 1.000 0.747 0.707 0.730 0 -10.7 0.002 -1.101 0.034 -1.135 0.017 0.000 0.063 0.000 0.016 3.428 0.069 . ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000176868.1|ENSG00000130714.11|ENSG00000130717.8|ENSG00000130723.13|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11 Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7924 0.5577 0.7707 0.8030 0.9370 0.7142 0.7905 0.7990 0.9089 0.7156 0.5630 0.7947 0.8179 0.9488 0.7188 0.7714 0.7207 het 486.96 37 9 134350458 . C T 486.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.349;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.167;QD=13.16;ReadPosRankSum=-0.198;VQSLOD=12.2000;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,19:37:99:517,0,419 9 134350647 134350647 T C exonic PRRC2B nonsynonymous SNV PRRC2B:NM_013318:exon15:c.T3131C:p.M1044T 0.98 0.93 0.99 1. 1. 1. 0.9934 0.9287 0.9945 0.9998 1 0.9997 0.9955 0.9997 0.98 0.93 1. 0.96 . rs10793873 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P -2.085 0.002 N 4.8 0.016 T 1.43 0.008 N 0.068 0.055 -0.946 0.417 T 0.000 0.000 T . . . -1.213 0.025 0.006 0.156 0.004 0.128 0.173 N c -0.736 -0.503 1.000 0.747 0.707 0.730 0 5.96 0.967 4.613 0.606 0.069 0.176 0.997 0.399 0.005 0.090 9.449 0.377 . . . 0.9943 0.9238 0.9949 1 0.9998 1 0.9996 0.9960 0.9998 0.9787 0.9263 0.9916 1 1 1 0.9995 0.9969 hom 931.25 30 9 134350647 . T C 931.25 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.04;VQSLOD=13.8959;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:78.24:964,78,0 9 134351065 134351065 G T exonic PRRC2B synonymous SNV PRRC2B:NM_013318:exon15:c.G3549T:p.G1183G 0.87 0.73 0.82 0.94 0.93 0.98 0.9146 0.7438 0.8302 0.9403 0.9274 0.9354 0.9215 0.9700 0.88 0.75 0.94 0.85 . rs7858488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9149 0.7352 0.8378 0.9293 0.9382 0.9321 0.9390 0.9151 0.9699 0.8776 0.7393 0.8699 0.9205 0.95 0.9304 0.9359 0.9006 hom 945.96 32 9 134351065 . G T 945.96 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.56;VQSLOD=13.3476;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.22:979,81,0 9 134351343 134351343 C T exonic PRRC2B nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C3827T:p.A1276V 0.34 0.37 0.32 0.12 0.56 0.29 0.4732 0.4025 0.2746 0.1097 0.6106 0.5843 0.4732 0.3391 0.53 0.42 0.59 0.29 . rs11243403 COSM4163439;COSM4163440 1(thyroid) . . . . . . . . . . . 0.289 0.150 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.182 P -0.345 0.033 N 4.59 0.019 T -0.3 0.119 N 0.009 0.200 -1.097 0.044 T 0.000 0.000 T . . . -0.837 0.039 0.035 0.929 0.219 0.039 0.092 N c -1.289 -1.228 1.000 0.401 0.672 0.522 0 0.799 0.177 0.751 0.258 -0.664 0.040 0.076 0.220 0.001 0.043 5.318 0.151 . ENSG00000107263.14 Whole_Blood 0.4674 0.3936 0.2928 0.4992 0.1100 0.5998 0.5917 0.4883 0.3420 0.5081 0.3968 0.3580 0.4967 0.1099 0.5896 0.6036 0.5367 hom 2676.52 88 9 134351343 . C T 2676.52 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=58.95;MQ0=0;QD=30.42;VQSLOD=8.9184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:88:99:2710,226,0 9 134351770 134351770 G A exonic PRRC2B synonymous SNV PRRC2B:NM_013318:exon15:c.G4254A:p.K1418K 0.097 0.18 0.073 0.004 0.16 0.034 0.1698 0.2 0.1139 0.0003 0.2824 0.2037 0.1613 0.0707 0.13 0.13 0.13 0.12 . rs78591540 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1168 0.1456 0.0644 0.1239 0.0004 0.2139 0.1435 0.1115 0.0592 0.1541 0.1509 0.0752 0.1033 0.0006 0.2097 0.1634 0.1800 het 176.27 12 9 134351770 . G A 176.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.468;DP=12;Dels=0.00;FS=3.090;HRun=2;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=0.289;QD=14.69;ReadPosRankSum=1.239;VQSLOD=4.5949;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,8:12:99:206,0,112 9 134385435 134385435 C T exonic POMT1 stopgain POMT1:NM_007171:exon8:c.C751T:p.Q251X 0.079 0.12 0.079 0.001 0.15 0.027 0.1035 0.1089 0.0534 0.0001 0.1581 0.1331 0.1134 0.0472 0.097 0.09 0.1 . 0.12 rs3887873 . . other|Likely benign not_specified|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000081492.10|RCV000326785.1 MedGen|MedGen CN169374|CN239352 . . . . . . . . . . . . . . . 0.001 0.006 U 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 6.082 0.838 28.2 0.837 0.143 0.011 0.040 N c -0.153 -0.601 0.166 0.177 0.707 0.730 0 -1.1 0.093 -0.049 0.118 -0.769 0.033 0.000 0.063 0.000 0.016 2.810 0.051 Glycosyl transferase family 39/83 ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130717.8|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130717.8|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.1023 0.1091 0.0613 0.1177 0.0003 0.1548 0.1324 0.1005 0.0492 0.1253 0.1123 0.0755 0.0960 0.0006 0.1551 0.1423 0.1316 het 1186.50 85 9 134385435 . C T 1186.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.045;DP=85;Dels=0.00;FS=1.038;HRun=0;HaplotypeScore=1.4538;MQ=58.35;MQ0=0;MQRankSum=-2.063;QD=13.96;ReadPosRankSum=-1.139;VQSLOD=4.2555;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1216,0,1007 9 134385436 134385436 A G exonic POMT1 nonsynonymous SNV POMT1:NM_007171:exon8:c.A752G:p.Q251R 0.87 0.72 0.83 0.92 0.94 0.97 0.9230 0.7388 0.8361 0.9156 0.9731 0.9510 0.9361 0.9698 0.88 0.74 0.95 0.79 0.91 rs2296949 . . Benign\x2cBenign not_specified\x2cnot_specified RCV000081493.5\x2cRCV000216907.1 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 0.613 0.054 T 0.0 0.026 B 0.0 0.013 B 0.001 0.006 N 1 0.090 P 0 0.065 N -1.02 0.818 T -0.08 0.090 N 0.007 0.301 -0.924 0.451 T 0.000 0.000 T . . . -0.974 0.033 0.018 0.162 0.004 0.000 0.003 N c -1.244 -1.300 0.162 0.176 0.707 0.730 0 1.25 0.204 -0.989 0.038 -0.287 0.084 0.000 0.063 0.000 0.016 3.501 0.072 Glycosyl transferase family 39/83 ENSG00000130714.11 Cells_Transformed_fibroblasts 0.9244 0.7315 0.8415 0.9428 0.9138 0.9770 0.9527 0.9281 0.9697 0.8942 0.7421 0.8699 0.9437 0.9185 0.9771 0.9578 0.9420 hom 2780.45 83 9 134385436 . A G 2780.45 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4538;MQ=58.31;MQ0=0;QD=33.50;VQSLOD=9.3407;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2813,223,0 9 134386744 134386744 T C exonic POMT1 synonymous SNV POMT1:NM_001136114:exon8:c.T525C:p.T175T,POMT1:NM_001077366:exon9:c.T714C:p.T238T,POMT1:NM_001077365:exon10:c.T876C:p.T292T,POMT1:NM_001136113:exon10:c.T876C:p.T292T,POMT1:NM_007171:exon10:c.T942C:p.T314T 0.87 0.72 0.83 0.92 0.94 0.97 0.9231 0.7393 0.8362 0.9162 0.9731 0.9510 0.9361 0.9697 0.88 0.74 0.95 0.89 0.91 rs10901065 . . Benign not_specified RCV000153752.3 MedGen CN169374 . . . . . . 0.014 0.531 D . . . . . . . . . 0.000 0.588 P . . . -2.9 0.917 D -1.37 0.340 N . . -0.978 0.355 T 0.000 0.000 T . . . 0.331 0.126 5.992 0.953 0.259 0.108 0.160 N c -0.508 -0.567 0.203 0.181 0.707 0.730 0 0.213 0.145 -1.669 0.020 -1.169 0.017 0.002 0.151 0.914 0.390 1.029 0.014 . ENSG00000130714.11 Cells_Transformed_fibroblasts 0.9245 0.7320 0.8418 0.9426 0.9138 0.9770 0.9527 0.9283 0.9697 0.8948 0.7438 0.8711 0.9437 0.9190 0.9771 0.9579 0.9420 hom 4234 128 9 134386744 . T C 4234 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6266;MQ=59.49;MQ0=0;QD=33.08;VQSLOD=7.7412;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,127:128:99:4200,322,0 9 134387488 134387488 T C exonic POMT1 synonymous SNV POMT1:NM_001136114:exon9:c.T696C:p.D232D,POMT1:NM_001077366:exon10:c.T885C:p.D295D,POMT1:NM_001077365:exon11:c.T1047C:p.D349D,POMT1:NM_001136113:exon11:c.T1047C:p.D349D,POMT1:NM_007171:exon11:c.T1113C:p.D371D 0.87 0.72 0.83 0.92 0.94 0.97 0.9232 0.7404 0.8360 0.9157 0.9731 0.9511 0.9361 0.9697 0.88 0.74 0.95 0.89 0.9 rs3739494 . . Benign not_specified RCV000153753.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9245 0.7321 0.8416 0.9426 0.9138 0.9769 0.9527 0.9284 0.9696 0.8945 0.7432 0.8711 0.9437 0.9189 0.9771 0.9579 0.9417 hom 1649.41 61 9 134387488 . T C 1649.41 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=27.04;VQSLOD=8.2670;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1682,138,0 9 134401335 134401335 C T exonic UCK1 nonsynonymous SNV UCK1:NM_001135954:exon5:c.G538A:p.A180T 0.81 0.52 0.81 0.92 0.92 0.97 0.8944 0.5868 0.8223 0.9127 0.9271 0.9314 0.9075 0.9661 0.83 0.6 0.95 0.83 0.87 rs2296957 . . . . . . . . . . . . . 0.004 0.654 D 0.104 0.244 B 0.014 0.158 B . . . 0.915 0.810 P . . . . . . -1.48 0.362 N . . -1.001 0.297 T 0.000 0.000 T . . . 1.494 0.242 13.28 0.940 0.234 0.091 0.147 N c -1.099 -1.164 0.994 0.335 0.707 0.730 0 -5.08 0.027 -1.771 0.019 -2.107 0.004 0.001 0.137 0.863 0.360 8.437 0.318 P-loop containing nucleoside triphosphate hydrolase|Phosphoribulokinase/uridine kinase ENSG00000130714.11 Cells_Transformed_fibroblasts 0.8985 0.5756 0.8273 0.9243 0.9111 0.9316 0.9344 0.9058 0.9652 0.8297 0.5849 0.8556 0.9172 0.9146 0.9284 0.9330 0.8839 hom 4243.32 135 9 134401335 . C T 4243.32 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3905;MQ=59.35;MQ0=0;QD=31.43;VQSLOD=7.6928;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4242,343,0 9 134406071 134406071 C G exonic UCK1 nonsynonymous SNV UCK1:NM_001261451:exon2:c.G85C:p.E29Q 0.86 0.68 0.89 1. 0.84 0.97 0.8662 0.7076 0.9294 0.9998 0.7775 0.8506 0.8667 0.9500 0.81 0.71 0.86 0.81 0.8 rs7867616 . . . . . . . . . . . . . 0.005 0.632 D . . . . . . . . . 1 0.182 P . . . . . . -0.01 0.072 N 0.122 0.138 -1.007 0.277 T 0.000 0.000 T . . . 1.530 0.246 13.47 0.550 0.051 0.091 0.147 N c -0.732 -0.879 1.000 0.747 0.006 0.001 3 2.57 0.298 0.263 0.181 -0.227 0.095 0.000 0.063 0.001 0.043 8.773 0.337 P-loop containing nucleoside triphosphate hydrolase|Phosphoribulokinase/uridine kinase ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130717.8|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130717.8|ENSG00000130714.11|ENSG00000130714.11|ENSG00000130714.11|ENSG00000230289.1|ENSG00000130714.11 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8702 0.6995 0.9222 0.8676 0.9996 0.7844 0.8537 0.8751 0.9477 0.8026 0.7002 0.9010 0.8974 0.9994 0.7901 0.8354 0.8163 het 1698.55 119 9 134406071 . C G 1698.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.348;DP=119;Dels=0.00;FS=2.296;HRun=1;HaplotypeScore=5.5601;MQ=59.22;MQ0=0;MQRankSum=1.122;QD=14.27;ReadPosRankSum=0.713;VQSLOD=4.4235;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,62:119:99:1729,0,1403 9 135102254 135102254 C T exonic NTNG2 synonymous SNV NTNG2:NM_032536:exon4:c.C876T:p.H292H 0.57 0.58 0.59 0.43 0.62 0.66 0.6184 0.5947 0.5169 0.4707 0.6302 0.6411 0.6494 0.6784 0.6 0.57 0.62 0.61 0.38 rs2149171 COSM3763691;COSM3763692;COSM3763693 3(thyroid);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5892 0.5732 0.4887 0.6843 0.4486 0.5976 0.6112 0.6172 0.6636 0.5760 0.5771 0.5108 0.7185 0.4342 0.5875 0.5872 0.6019 hom 1253.05 43 9 135102254 . C T 1253.05 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.14;VQSLOD=13.7559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1286,99,0 9 135105964 135105964 A G exonic NTNG2 nonsynonymous SNV NTNG2:NM_032536:exon5:c.A1036G:p.T346A 1. 1. 1. 1. 1. 1. 0.9952 0.9987 0.9988 0.9992 0.9885 0.9929 0.9957 0.9994 1. 1. 1. 0.55 0.66 rs4962173 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P -0.85 0.015 N -0.28 0.676 T 1.06 0.013 N 0.08 0.104 -0.936 0.433 T 0.000 0.000 T . . . 0.534 0.145 7.686 0.197 0.007 0.005 0.022 N c -0.790 -0.588 0.958 0.283 0.554 0.283 0 5.07 0.680 2.376 0.437 0.130 0.216 0.990 0.367 0.253 0.228 9.755 0.395 . . . 0.9962 0.9988 0.9994 0.9999 0.9999 0.9902 0.9941 0.9965 0.9994 0.9960 0.9993 0.9988 0.9967 1 0.9885 0.9952 0.9959 hom 374.91 14 9 135105964 . A G 374.91 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.95;MQ0=0;QD=26.78;VQSLOD=7.8095;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:33.10:408,33,0 9 135202829 135202829 T C exonic SETX nonsynonymous SNV SETX:NM_001351527:exon10:c.A4156G:p.I1386V,SETX:NM_001351528:exon10:c.A4156G:p.I1386V,SETX:NM_015046:exon10:c.A4156G:p.I1386V 0.56 0.31 0.77 0.36 0.86 0.63 0.7252 0.3804 0.7945 0.2984 0.8324 0.8335 0.7566 0.6346 0.69 0.4 0.85 0.53 0.84 rs543573 COSM3982759;COSM150732 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);4(prostate);1(thyroid) other|Benign|Benign not_specified|Ataxia_with_Oculomotor_Apraxia|Amyotrophic_Lateral_Sclerosis\x2c_Dominant RCV000081696.8|RCV000298134.1|RCV000391406.1 MedGen|MedGen|MedGen CN169374|CN239198|CN239175 . . . . . . 0.872 0.026 T 0.0 0.026 B 0.0 0.013 B 0.000 0.003 N 1 0.090 P 1.355 0.339 L -1.98 0.853 D 0.2 0.049 N 0.022 0.007 -0.930 0.441 T 0.000 0.000 T . . . -2.800 0.002 0.001 0.164 0.004 0.063 0.121 N c -2.002 -1.960 1.000 0.500 0.707 0.730 0 -1.62 0.079 -1.059 0.036 -0.661 0.040 0.000 0.063 0.000 0.016 6.226 0.198 . ENSG00000107290.9 Thyroid 0.7366 0.3700 0.7952 0.7496 0.3035 0.8319 0.8419 0.7752 0.6354 0.6782 0.3717 0.7900 0.6623 0.3151 0.8277 0.8460 0.8035 hom 4849.25 168 9 135202829 . T C 4849.25 Mask AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=57.92;MQ0=0;QD=28.86;VQSLOD=7.7989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,168:168:99:4848,391,0 9 135203231 135203231 C T exonic SETX nonsynonymous SNV SETX:NM_001351527:exon10:c.G3754A:p.G1252R,SETX:NM_001351528:exon10:c.G3754A:p.G1252R,SETX:NM_015046:exon10:c.G3754A:p.G1252R 0.56 0.31 0.77 0.36 0.86 0.63 0.7251 0.3804 0.7941 0.2982 0.8322 0.8334 0.7566 0.6346 0.69 0.4 0.84 0.53 0.84 rs1183768 COSM150733;COSM3982760 1(stomach);1(haematopoietic_and_lymphoid_tissue);8(prostate) other|Benign|Benign not_specified|Amyotrophic_Lateral_Sclerosis\x2c_Dominant|Ataxia_with_Oculomotor_Apraxia RCV000081695.9|RCV000293963.1|RCV000351274.1 MedGen|MedGen|MedGen CN169374|CN239175|CN239198 . . . . . . 0.133 0.264 T 0.796 0.428 P 0.403 0.428 B 0.563 0.113 N 0.379 0.327 P 2.085 0.579 M -2.01 0.855 D -0.63 0.185 N 0.122 0.301 -0.933 0.437 T 0.000 0.000 T . . . 2.174 0.322 17.34 0.959 0.275 0.220 0.214 N c -0.098 -0.078 1.000 0.517 0.707 0.730 0 4.72 0.591 0.508 0.222 0.935 0.490 0.001 0.137 0.943 0.417 13.611 0.614 . ENSG00000107290.9 Thyroid 0.7365 0.3699 0.7951 0.7495 0.3033 0.8318 0.8418 0.7753 0.6354 0.6782 0.3725 0.7916 0.6623 0.3170 0.8277 0.8457 0.8031 hom 4460.30 142 9 135203231 . C T 4460.30 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=1.6988;MQ=58.52;MQ0=0;QD=31.41;VQSLOD=8.9628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4460,340,0 9 135203409 135203409 A C exonic SETX nonsynonymous SNV SETX:NM_001351527:exon10:c.T3576G:p.D1192E,SETX:NM_001351528:exon10:c.T3576G:p.D1192E,SETX:NM_015046:exon10:c.T3576G:p.D1192E 0.64 0.58 0.81 0.37 0.88 0.64 0.7635 0.6476 0.8104 0.3062 0.8615 0.8500 0.7815 0.6532 0.79 0.66 0.86 0.64 0.83 rs1185193 . . other|Benign|Benign not_specified|Amyotrophic_Lateral_Sclerosis\x2c_Dominant|Ataxia_with_Oculomotor_Apraxia RCV000081694.8|RCV000278408.1|RCV000389540.1 MedGen|MedGen|MedGen CN169374|CN239175|CN239198 . . . . . . 0.377 0.113 T 0.004 0.112 B 0.006 0.112 B 0.000 0.002 N 1 0.090 P 0.895 0.225 L -2.09 0.861 D -0.64 0.187 N 0.006 0.000 -0.914 0.463 T 0.000 0.000 T . . . -1.537 0.016 0.002 0.744 0.103 0.094 0.150 N c -1.793 -1.893 1.000 0.747 0.707 0.730 0 -9.5 0.005 -1.154 0.033 -0.694 0.038 0.000 0.063 0.000 0.016 16.379 0.832 . ENSG00000107290.9 Thyroid 0.7695 0.6398 0.8122 0.7843 0.3113 0.8572 0.8568 0.7988 0.6541 0.7646 0.6368 0.8074 0.6887 0.3236 0.8499 0.8608 0.8381 hom 2224.96 66 9 135203409 . A C 2224.96 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8857;MQ=58.41;MQ0=0;QD=33.71;VQSLOD=8.6712;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2258,175,0 9 135206460 135206460 A G exonic SETX synonymous SNV SETX:NM_001351527:exon9:c.T1077C:p.Y359Y,SETX:NM_001351528:exon9:c.T1077C:p.Y359Y,SETX:NM_015046:exon9:c.T1077C:p.Y359Y 0.63 0.55 0.79 0.37 0.86 0.63 0.7477 0.6230 0.8048 0.3022 0.8324 0.8340 0.7643 0.6354 0.78 0.64 0.85 0.63 0.66 rs9411449 COSM4163458;COSM150734 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) other|Benign|Benign not_specified|Ataxia_with_Oculomotor_Apraxia|Amyotrophic_Lateral_Sclerosis\x2c_Dominant RCV000081691.8|RCV000324127.1|RCV000381219.1 MedGen|MedGen|MedGen CN169374|CN239198|CN239175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7538 0.6138 0.8060 0.7497 0.3060 0.8319 0.8423 0.7831 0.6363 0.7463 0.6109 0.8007 0.6623 0.3176 0.8276 0.8461 0.8173 hom 3768.83 133 9 135206460 . A G 3768.83 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=28.34;VQSLOD=8.4526;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3769,280,0 9 135263573 135263573 G T exonic TTF1 synonymous SNV TTF1:NM_001205296:exon7:c.C720A:p.I240I,TTF1:NM_007344:exon8:c.C2265A:p.I755I 0.9 0.69 0.96 0.97 0.99 0.98 0.9666 0.7326 0.9837 0.9768 0.9884 0.9941 0.9890 0.9757 0.91 0.74 0.99 0.88 0.97 rs556386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9717 0.7245 0.9831 0.9866 0.9773 0.9884 0.9950 0.9814 0.9756 0.9151 0.7216 0.9761 0.9901 0.9809 0.9877 0.9947 0.9766 hom 2923.79 100 9 135263573 . G T 2923.79 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.52;MQ0=0;QD=29.24;VQSLOD=8.9951;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:2957,232,0 9 135273607 135273607 C G exonic TTF1 synonymous SNV TTF1:NM_001205296:exon3:c.G153C:p.L51L,TTF1:NM_007344:exon4:c.G1698C:p.L566L 0.72 0.54 0.82 0.71 0.85 0.76 0.7985 0.5724 0.8492 0.6874 0.8254 0.8490 0.7808 0.7498 0.76 0.58 0.86 0.75 0.83 rs504525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8024 0.5622 0.8390 0.8196 0.6794 0.8292 0.8517 0.8110 0.7431 0.7562 0.5636 0.8294 0.7649 0.6795 0.8254 0.8509 0.8323 hom 3000.43 90 9 135273607 . C G 3000.43 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.91;MQ0=0;QD=33.34;VQSLOD=8.8346;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3033,235,0 9 135374898 135374898 T C exonic CFAP77 synonymous SNV CFAP77:NM_001282957:exon3:c.T435C:p.N145N,CFAP77:NM_207417:exon4:c.T543C:p.N181N 0.68 0.85 0.57 0.83 0.48 0.57 0.5875 0.8067 0.5564 0.8351 0.6077 0.5349 0.5793 0.5463 0.62 0.8 0.54 0.66 0.46 rs562350 COSM1132566 2(liver);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5819 0.8095 0.5552 0.4966 0.8269 0.6052 0.5367 0.5337 0.5439 0.6431 0.8072 0.5455 0.5232 0.8117 0.5936 0.5537 0.5682 het 3959.39 250 9 135374898 . T C 3959.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.623;DP=250;DS;Dels=0.00;FS=0.987;HRun=0;HaplotypeScore=8.1186;MQ=59.00;MQ0=0;MQRankSum=0.168;QD=15.84;ReadPosRankSum=0.239;VQSLOD=4.5494;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,132:250:99:3335,0,3156 9 135470414 135470414 T C exonic DDX31 nonsynonymous SNV DDX31:NM_001322340:exon18:c.A2176G:p.I726V,DDX31:NM_001322342:exon20:c.A1864G:p.I622V,DDX31:NM_001322343:exon20:c.A2008G:p.I670V,DDX31:NM_022779:exon20:c.A2395G:p.I799V,DDX31:NM_001322341:exon21:c.A2107G:p.I703V 0.83 0.94 0.84 0.72 0.77 0.83 0.7771 0.9210 0.8907 0.7183 0.7162 0.7454 0.7599 0.7908 0.81 0.92 0.75 0.79 0.74 rs306547 COSM4163463 1(bone);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.007 N 1 0.090 P -0.895 0.014 N 4.44 0.022 T 0.25 0.045 N 0.011 0.107 -1.028 0.210 T 0.000 0.000 T . . . -1.130 0.027 0.009 0.509 0.044 0.002 0.010 N c -1.546 -1.558 1.000 0.500 0.758 0.990 0 -2.58 0.058 -0.373 0.075 -1.051 0.020 0.000 0.063 0.000 0.016 5.677 0.169 . ENSG00000125485.13 Artery_Aorta 0.7802 0.9209 0.8836 0.7591 0.7241 0.7217 0.7498 0.7676 0.7905 0.7960 0.9146 0.8696 0.7252 0.7265 0.7258 0.7496 0.7724 het 1937.54 155 9 135470414 . T C 1937.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.755;DP=155;Dels=0.00;FS=0.620;HRun=0;HaplotypeScore=2.9196;MQ=59.48;MQ0=0;MQRankSum=-0.005;QD=12.50;ReadPosRankSum=-1.920;VQSLOD=5.9967;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,76:155:99:1968,0,2101 9 135538050 135538050 C T exonic DDX31 synonymous SNV DDX31:NM_001322340:exon2:c.G423A:p.A141A,DDX31:NM_001322343:exon2:c.G36A:p.A12A,DDX31:NM_001322344:exon2:c.G423A:p.A141A,DDX31:NM_022779:exon2:c.G423A:p.A141A,DDX31:NM_138620:exon2:c.G423A:p.A141A,DDX31:NM_001322341:exon3:c.G135A:p.A45A 0.037 0.0091 0.05 0.003 0.094 0.041 0.0788 0.0172 0.0287 0.0016 0.1390 0.1066 0.0815 0.0568 0.076 0.019 0.11 0.087 0.049 rs35918594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0772 0.0155 0.0310 0.0389 0.0013 0.1358 0.1087 0.0784 0.0562 0.0810 0.0174 0.0477 0.0762 0.0006 0.1323 0.1143 0.1161 het 1007.17 90 9 135538050 . C T 1007.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.749;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5558;MQ=58.37;MQ0=0;MQRankSum=1.055;QD=11.19;ReadPosRankSum=-2.172;VQSLOD=4.4580;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,42:90:99:1037,0,1282 9 135974079 135974079 G C exonic RALGDS synonymous SNV RALGDS:NM_001042368:exon18:c.C2475G:p.L825L,RALGDS:NM_001271774:exon18:c.C2553G:p.L851L,RALGDS:NM_001271775:exon18:c.C2637G:p.L879L,RALGDS:NM_001271776:exon18:c.C2604G:p.L868L,RALGDS:NM_006266:exon18:c.C2640G:p.L880L 0.83 0.86 0.84 0.79 0.82 0.81 0.8416 0.8572 0.8846 0.7657 0.7430 0.8523 0.8040 0.8397 0.85 0.86 0.85 0.8 0.84 rs1062356 COSM4418891;COSM4418889;COSM4418888;COSM4418890 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8410 0.8565 0.8896 0.8312 0.7653 0.7483 0.8559 0.8383 0.8391 0.8342 0.8615 0.8888 0.8433 0.7605 0.7415 0.8460 0.8139 hom 3510.49 111 9 135974079 . G C 3510.49 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9125;MQ=58.78;MQ0=0;QD=31.63;VQSLOD=9.2901;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3510,268,0 9 135982088 135982088 A C exonic RALGDS synonymous SNV RALGDS:NM_001042368:exon8:c.T1296G:p.S432S,RALGDS:NM_001271774:exon8:c.T1374G:p.S458S,RALGDS:NM_001271775:exon8:c.T1458G:p.S486S,RALGDS:NM_001271776:exon8:c.T1425G:p.S475S,RALGDS:NM_006266:exon8:c.T1461G:p.S487S 0.19 0.14 0.32 0.16 0.3 0.11 0.2604 0.1724 0.2921 0.1422 0.2359 0.3112 0.2712 0.1561 0.26 0.17 0.3 0.18 0.35 rs2073822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2534 0.1570 0.2896 0.3596 0.1333 0.2202 0.2988 0.2892 0.1485 0.2283 0.1513 0.3222 0.3576 0.1364 0.2279 0.2760 0.2184 het 899.28 67 9 135982088 . A C 899.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.759;DP=67;Dels=0.00;FS=0.946;HRun=1;HaplotypeScore=0.9987;MQ=59.44;MQ0=0;MQRankSum=0.523;QD=13.42;ReadPosRankSum=-0.158;VQSLOD=6.8861;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,37:67:99:929,0,800 9 135983504 135983504 T C exonic RALGDS synonymous SNV RALGDS:NM_001042368:exon6:c.A903G:p.A301A,RALGDS:NM_001271774:exon6:c.A981G:p.A327A,RALGDS:NM_001271775:exon6:c.A1065G:p.A355A,RALGDS:NM_001271776:exon6:c.A1032G:p.A344A,RALGDS:NM_006266:exon6:c.A1068G:p.A356A 0.29 0.48 0.35 0.16 0.3 0.11 0.2795 0.4403 0.3048 0.1385 0.2193 0.3068 0.2876 0.1491 0.35 0.44 0.31 0.27 0.35 rs2285375 COSM3763717;COSM3763714;COSM3763715;COSM3763716 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2773 0.4502 0.3085 0.3754 0.1341 0.2213 0.3025 0.3066 0.1502 0.3127 0.4427 0.3508 0.3675 0.1363 0.2287 0.2775 0.2356 het 1560.86 128 9 135983504 . T C 1560.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.288;DP=128;Dels=0.00;FS=6.031;HRun=0;HaplotypeScore=2.4404;MQ=59.71;MQ0=0;MQRankSum=-0.642;QD=12.19;ReadPosRankSum=0.575;VQSLOD=5.2472;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,68:128:99:1591,0,1556 9 136004699 136004699 G A exonic RALGDS nonsynonymous SNV RALGDS:NM_001271775:exon1:c.C7T:p.R3W 0.35 0.2 0.3 0.48 0.3 0.49 0.4082 0.2848 0.4454 0.5852 0.4604 0.3467 0.3771 0.5222 0.25 0.22 0.26 0.33 . rs623361 COSM5766952 1(large_intestine) . . . . . . . . . . . 0.025 0.473 D 0.019 0.167 B 0.007 0.121 B . . . 1.000 0.588 P . . . 1.51 0.309 T -0.31 0.121 N 0.241 0.295 -0.942 0.423 T 0.000 0.000 T . . . 5.256 0.710 25.7 0.989 0.484 0.616 0.313 D c -0.527 -0.458 1.000 0.747 0.372 0.050 0 2.77 0.315 1.415 0.341 0.062 0.168 0.991 0.370 0.930 0.404 6.67 0.221 . . . 0.3383 0.2081 0.3521 0.2726 0.5437 0.3693 0.2754 0.3140 0.4835 0.2881 0.2006 0.3164 0.2285 0.5434 0.3715 0.2874 0.3536 het 226.43 17 9 136004699 . G A 226.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.053;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.838;QD=13.32;ReadPosRankSum=-0.053;VQSLOD=10.5965;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:256,0,234 9 136083580 136083580 T G exonic OBP2B synonymous SNV OBP2B:NM_001288987:exon3:c.A217C:p.R73R,OBP2B:NM_014581:exon3:c.A217C:p.R73R 0.74 0.75 0.84 0.66 0.84 0.62 0.7843 0.7658 0.8257 0.6293 0.7718 0.8403 0.7770 0.6262 0.81 0.76 0.84 0.41 0.76 rs2073870 COSM5428346;COSM5428345 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7839 0.7586 0.8256 0.8248 0.6193 0.7760 0.8415 0.8103 0.6179 0.7779 0.7571 0.8373 0.8209 0.6058 0.7613 0.8091 0.7552 hom 3053.51 133 9 136083580 . T G 3053.51 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=43.88;MQ0=5;QD=22.96;VQSLOD=2.5080;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,131:133:99:3087,256,0 9 136131289 136131289 C T exonic ABO unknown UNKNOWN 0.27 0.24 0.43 0.29 0.22 0.22 0.2640 0.2527 0.5136 0.2707 0.1780 0.2430 0.2300 0.2126 0.23 0.23 0.24 0.22 . rs8176748 COSM455537 1(pancreas);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . 1.0 0.899 D 0.998 0.875 D . . . . . . 2.93 0.848 M . . . . . . 0.256 0.312 . . . . . . . . . 0.646 0.156 8.468 0.596 0.061 0.824 0.414 D n 1.334 0.710 1.000 0.747 0.057 0.007 0 4.38 0.519 3.368 0.518 0.752 0.309 0.951 0.329 0.021 0.135 15.828 0.784 Nucleotide-diphospho-sugar transferases ENSG00000175164.9|ENSG00000175164.9|ENSG00000175164.9|ENSG00000175164.9|ENSG00000148290.5|ENSG00000175164.9 Esophagus_Mucosa|Heart_Atrial_Appendage|Ovary|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.2672 0.2469 0.4907 0.2752 0.2643 0.1773 0.2370 0.2609 0.2076 0.2314 0.2412 0.4294 0.2947 0.2602 0.1770 0.2245 0.2074 het 808.58 50 9 136131289 . C T 808.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.914;DP=50;Dels=0.00;FS=8.478;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=0.400;QD=16.17;ReadPosRankSum=-1.262;VQSLOD=4.0490;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,30:50:99:839,0,575 9 136131347 136131347 G A exonic ABO unknown UNKNOWN 0.27 0.24 0.43 0.29 0.22 0.22 0.2962 0.2894 0.5508 0.3185 0.2170 0.2768 0.2483 0.2318 0.23 0.22 0.24 0.22 . rs8176745 COSM5426972 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2691 0.2511 0.4895 0.2771 0.2668 0.1792 0.2387 0.2625 0.2080 0.2315 0.2407 0.4303 0.2967 0.2593 0.1771 0.2250 0.2082 het 152.41 16 9 136131347 . G A 152.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DP=16;Dels=0.00;FS=3.010;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=0.488;QD=9.53;ReadPosRankSum=1.573;VQSLOD=4.6246;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,6:16:99:182,0,329 9 136131437 136131437 C T exonic ABO unknown UNKNOWN 0.24 0.14 0.42 0.29 0.22 0.22 0.2367 0.1511 0.4433 0.2511 0.2006 0.2363 0.2292 0.2017 0.19 0.12 0.22 0.16 . rs8176742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2442 0.1376 0.4591 0.2686 0.2443 0.1693 0.2167 0.2474 0.1965 0.2042 0.1446 0.4234 0.2947 0.2587 0.1765 0.2253 0.2021 het 117.80 10 9 136131437 . C T 117.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.336;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.851;QD=11.78;ReadPosRankSum=-1.098;VQSLOD=10.8347;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:148,0,150 9 136131472 136131472 A T exonic ABO unknown UNKNOWN 0.27 0.24 0.43 0.29 0.22 0.22 0.2539 0.2581 0.4674 0.2543 0.2107 0.2436 0.2317 0.2061 0.23 0.22 0.23 0.23 . rs8176740 . . . . . . . . . . . . . . . . 1.0 0.899 D 0.995 0.818 D . . . . . . 2.925 0.847 M . . . . . . 0.201 0.246 . . . . . . . . . 0.159 0.109 4.247 0.641 0.072 0.901 0.508 D n 1.037 0.674 1.000 0.411 0.057 0.007 0 3.55 0.396 5.149 0.645 0.075 0.182 1.000 0.715 0.036 0.153 8.973 0.349 Nucleotide-diphospho-sugar transferases ENSG00000175164.9|ENSG00000175164.9|ENSG00000175164.9|ENSG00000175164.9|ENSG00000148290.5 Esophagus_Mucosa|Heart_Atrial_Appendage|Ovary|Pancreas|Skin_Sun_Exposed_Lower_leg 0.2522 0.2337 0.4678 0.2688 0.2438 0.1706 0.2194 0.2547 0.1985 0.2318 0.2415 0.4294 0.2947 0.2605 0.1759 0.2253 0.2076 het 112.47 12 9 136131472 . A T 112.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.000;QD=9.37;ReadPosRankSum=1.000;VQSLOD=10.4452;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,7:12:99:142,0,146 9 136132873 136132873 T C exonic ABO unknown UNKNOWN 0.45 0.49 0.49 0.48 0.34 0.46 0.3991 0.4683 0.5717 0.4476 0.3257 0.3411 0.3767 0.4766 0.37 0.44 0.34 0.4 . rs8176720 COSM150738 1(stomach) . . . . . Serum alkaline phosphatase levels . .04 24094242 rs8176720 3E-21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4037 0.4708 0.5587 0.4015 0.4481 0.3326 0.3365 0.3897 0.4749 0.3935 0.4642 0.5180 0.4205 0.4453 0.3361 0.3541 0.3768 het 1278.01 98 9 136132873 . T C 1278.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.166;DP=98;Dels=0.00;FS=3.216;HRun=0;HaplotypeScore=9.5980;MQ=59.92;MQ0=0;MQRankSum=-1.651;QD=13.04;ReadPosRankSum=-0.070;VQSLOD=3.4731;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:44,53:98:99:1308,0,1165 9 136132908 136132908 - C exonic ABO unknown UNKNOWN 0.34 0.29 0.23 0.38 0.39 0.4 0.3764 0.3096 0.2124 0.3806 0.4666 0.3852 0.4083 0.4545 0.34 0.31 0.36 0.3 . rs8176719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3685 0.3099 0.2148 0.4293 0.3769 0.4703 0.3723 0.3658 0.4542 0.3717 0.3116 0.2613 0.4228 0.3800 0.4667 0.3881 0.3793 het 1049.16 69 9 136132908 . T TC 1049.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.455;DP=69;FS=0.000;HRun=0;HaplotypeScore=279.9689;MQ=60.16;MQ0=0;MQRankSum=-0.439;QD=15.21;ReadPosRankSum=-0.389;set=variant2 GT:AD:DP:GQ:PL 0/1:42,27:69:99:1088,0,1496 9 136133506 136133506 A G exonic ABO unknown UNKNOWN 0.73 0.72 0.58 0.71 0.81 0.77 0.7604 0.7362 0.4975 0.7304 0.8526 0.7979 0.7656 0.7856 0.78 0.75 0.79 0.78 . rs512770 COSM3927864 2(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7514 0.7322 0.5129 0.7501 0.7342 0.8518 0.7976 0.7485 0.7906 0.7787 0.7364 0.5683 0.7285 0.7379 0.8379 0.8039 0.8173 het 936.82 90 9 136133506 . A G 936.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.811;DP=90;Dels=0.00;FS=1.875;HRun=1;HaplotypeScore=5.5229;MQ=57.90;MQ0=0;MQRankSum=-0.086;QD=10.41;ReadPosRankSum=-0.984;VQSLOD=4.6552;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,38:90:99:967,0,1397 9 136135237 136135237 A G exonic ABO unknown UNKNOWN 0.73 0.76 0.57 0.71 0.78 0.78 0.7387 0.7604 0.4906 0.7261 0.8256 0.7584 0.7678 0.7894 0.74 0.76 0.73 0.033 . rs549443 COSM4007087 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7319 0.7582 0.5104 0.7176 0.7332 0.8220 0.7610 0.7370 0.7926 0.7672 0.7616 0.5658 0.6980 0.7360 0.8230 0.7720 0.7883 het 1250.54 128 9 136135237 . A G 1250.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.616;DP=128;Dels=0.00;FS=5.547;HRun=0;HaplotypeScore=2.4131;MQ=57.91;MQ0=0;MQRankSum=-1.069;QD=9.77;ReadPosRankSum=-0.732;VQSLOD=3.9133;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1281,0,1960 9 136135238 136135238 T C exonic ABO unknown UNKNOWN 0.71 0.67 0.57 0.71 0.78 0.77 0.7316 0.6822 0.4874 0.7260 0.8256 0.7578 0.7644 0.7893 0.71 0.68 0.72 . . rs549446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7262 0.6807 0.5070 0.7113 0.7332 0.8220 0.7608 0.7323 0.7923 0.7452 0.6841 0.5646 0.6887 0.7369 0.8228 0.7723 0.7863 het 1286.68 128 9 136135238 . T C 1286.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DP=128;Dels=0.00;FS=3.275;HRun=0;HaplotypeScore=2.4131;MQ=58.10;MQ0=0;MQRankSum=-1.003;QD=10.05;ReadPosRankSum=-0.823;VQSLOD=4.7178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1317,0,1908 9 136136770 136136770 A C exonic ABO unknown UNKNOWN 0.72 0.69 0.58 0.71 0.79 0.78 0.7577 0.7052 0.5697 0.7564 0.8333 0.7727 0.7791 0.7989 0.74 0.7 0.76 0.76 . rs688976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7259 0.6843 0.5114 0.7242 0.7331 0.8219 0.7591 0.7320 0.7920 0.7486 0.6925 0.5668 0.7053 0.7370 0.8231 0.7736 0.7878 het 182.13 15 9 136136770 . A C 182.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.534;DP=15;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.9985;MQ=60.00;MQ0=0;MQRankSum=0.530;QD=12.14;ReadPosRankSum=0.295;VQSLOD=6.1317;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,9:15:99:212,0,178 9 136227260 136227260 A G exonic SURF2 nonsynonymous SNV SURF2:NM_001278928:exon5:c.A637G:p.S213G,SURF2:NM_017503:exon5:c.A637G:p.S213G 0.68 0.84 0.63 0.7 0.6 0.53 0.6272 0.7962 0.6226 0.6851 0.5356 0.6240 0.6340 0.5419 0.68 0.79 0.62 0.61 0.7 rs12763 COSM4163483 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6203 0.7965 0.6238 0.7399 0.6761 0.5378 0.6144 0.6408 0.5351 0.6443 0.7975 0.6527 0.6933 0.6691 0.5407 0.5816 0.5429 hom 1477.43 43 9 136227260 . A G 1477.43 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=34.36;VQSLOD=9.9154;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1510,120,0 9 136268038 136268038 C T exonic STKLD1 synonymous SNV STKLD1:NM_153710:exon14:c.C1371T:p.N457N 0.44 0.39 0.49 0.46 0.43 0.47 0.4726 0.4248 0.5375 0.4678 0.4342 0.4730 0.4884 0.4719 0.43 0.4 0.44 0.36 0.33 rs3124748 COSM3763720 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4426 0.3867 0.5073 0.5705 0.4227 0.3843 0.4266 0.4593 0.4549 0.4054 0.3901 0.5251 0.4901 0.4214 0.3862 0.4105 0.3786 hom 522.67 17 9 136268038 . C T 522.67 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.35;MQ0=0;QD=30.75;VQSLOD=8.4787;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.10:556,48,0 9 136270538 136270538 T G exonic STKLD1 nonsynonymous SNV STKLD1:NM_153710:exon18:c.T2036G:p.L679R 0.037 0.0023 0.068 . 0.1 0.036 0.0843 0.0156 0.0716 0.0007 0.1002 0.1118 0.0841 0.0603 0.071 0.015 0.099 0.011 0.066 rs41302673 COSM1489771 1(large_intestine) . . . . . . . . . . . 0.056 0.381 T 0.718 0.403 P 0.154 0.327 B 0.003 0.009 U 1 0.090 N 0 0.065 N -0.55 0.711 T -0.53 0.164 N 0.157 0.188 -1.010 0.268 T 0.005 0.015 T . . . 2.021 0.304 16.34 0.866 0.161 0.042 0.096 N c -1.098 -1.273 1.000 0.747 0.498 0.195 0 -5.58 0.023 -1.432 0.025 -0.712 0.037 0.000 0.063 0.000 0.016 5.857 0.179 . ENSG00000148290.5|ENSG00000148290.5|ENSG00000148290.5|ENSG00000148290.5|ENSG00000148290.5|ENSG00000148290.5|ENSG00000148290.5|ENSG00000148290.5|ENSG00000148290.5|ENSG00000148290.5 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hippocampus|Colon_Transverse|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0811 0.0138 0.0651 0.1749 0.0008 0.0985 0.1033 0.0979 0.0545 0.0702 0.0176 0.0776 0.13 0 0.1037 0.0984 0.0787 het 886.25 61 9 136270538 . T G 886.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.241;DP=61;Dels=0.00;FS=5.263;HRun=2;HaplotypeScore=0.8667;MQ=59.59;MQ0=0;MQRankSum=-0.197;QD=14.53;ReadPosRankSum=-0.270;VQSLOD=5.7695;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,35:61:99:916,0,602 9 136277480 136277480 A G exonic REXO4 synonymous SNV REXO4:NM_001279350:exon4:c.T438C:p.T146T,REXO4:NM_001279351:exon4:c.T570C:p.T190T,REXO4:NM_020385:exon4:c.T849C:p.T283T 0.7 0.88 0.63 0.75 0.61 0.55 0.6326 0.8339 0.6200 0.7273 0.5377 0.6213 0.6322 0.5489 0.7 0.83 0.63 0.63 0.68 rs2285486 COSM4163488 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6291 0.8372 0.6264 0.7594 0.7215 0.5458 0.6140 0.6462 0.5469 0.6595 0.8338 0.6511 0.71 0.7165 0.5508 0.5833 0.5574 hom 8119.57 250 9 136277480 . A G 8119.57 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2411;MQ=59.49;MQ0=0;QD=32.48;VQSLOD=7.9703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8118,683,0 9 136277979 136277979 G A exonic REXO4 nonsynonymous SNV REXO4:NM_001279350:exon3:c.C224T:p.A75V,REXO4:NM_001279351:exon3:c.C356T:p.A119V,REXO4:NM_020385:exon3:c.C635T:p.A212V 0.001 . . . . 0.0051 0.0008 0 0 0 0 4.511e-05 0.0022 0.0058 0.0001 . 0.0001 . . rs139090649 . . . . . . . . . . . . . 0.057 0.379 T 0.816 0.436 P 0.085 0.279 B 0.000 0.843 D 1 0.810 D 1.67 0.430 L 2.01 0.282 T -2.63 0.564 D 0.452 0.718 -0.981 0.348 T 0.076 0.307 T 0.029 0.515 D 4.438 0.594 24.2 0.999 0.955 0.963 0.684 D c 0.417 0.481 1.000 0.747 0.707 0.730 0 5.13 0.696 7.216 0.773 1.045 0.669 1.000 0.715 0.958 0.437 17.557 0.877 . . . 0.0007 6.534e-05 5.956e-05 0 0 0 8.954e-05 0.0004 0.0052 0.0002 0 0 0 0 0 0.0003 0.0020 het 1823.71 117 9 136277979 . G A 1823.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.531;DP=117;Dels=0.00;FS=2.440;HRun=0;HaplotypeScore=5.3801;MQ=59.47;MQ0=0;MQRankSum=1.204;QD=15.59;ReadPosRankSum=0.981;VQSLOD=3.2030;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,70:117:99:1854,0,1227 9 136291063 136291063 C T exonic ADAMTS13 synonymous SNV ADAMTS13:NM_139025:exon5:c.C420T:p.A140A,ADAMTS13:NM_139026:exon5:c.C420T:p.A140A,ADAMTS13:NM_139027:exon5:c.C420T:p.A140A 0.58 0.49 0.53 0.83 0.51 0.56 0.5504 0.4811 0.5695 0.8449 0.4171 0.5349 0.5320 0.5429 0.52 0.48 0.53 0.51 0.62 rs3118667 COSM1460807;COSM4407209 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5505 0.4798 0.5658 0.7023 0.8398 0.4259 0.5244 0.5602 0.5411 0.5031 0.4827 0.5742 0.6589 0.8224 0.4372 0.4924 0.4488 hom 2683.23 82 9 136291063 . C T 2683.23 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=59.15;MQ0=0;QD=32.72;VQSLOD=9.7136;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:82:99:2716,214,0 9 136304497 136304497 A G exonic ADAMTS13 synonymous SNV ADAMTS13:NM_139025:exon15:c.A1716G:p.T572T,ADAMTS13:NM_139026:exon15:c.A1623G:p.T541T,ADAMTS13:NM_139027:exon15:c.A1716G:p.T572T 0.52 0.37 0.48 0.81 0.42 0.53 0.4718 0.3596 0.5054 0.8224 0.3622 0.4384 0.4669 0.5144 0.42 0.36 0.44 0.4 0.54 rs3124768 COSM4163494 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4754 0.3592 0.4969 0.6290 0.8174 0.3624 0.4313 0.4717 0.5115 0.4080 0.3546 0.5036 0.5563 0.8007 0.3751 0.3986 0.3686 hom 6455.10 218 9 136304497 . A G 6455.10 Mask AC=2;AF=1.00;AN=2;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8882;MQ=59.32;MQ0=0;QD=29.61;VQSLOD=6.9511;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:6454,538,0 9 136308542 136308542 C T exonic ADAMTS13 synonymous SNV ADAMTS13:NM_139025:exon19:c.C2280T:p.G760G,ADAMTS13:NM_139026:exon19:c.C2187T:p.G729G,ADAMTS13:NM_139027:exon19:c.C2280T:p.G760G 0.5 0.33 0.48 0.8 0.4 0.52 0.5125 0.3839 0.5695 0.8189 0.4275 0.4734 0.5017 0.5279 0.39 0.33 0.42 0.36 0.31 rs3124767 COSM3763722 1(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4676 0.3255 0.5145 0.6127 0.8033 0.3274 0.4121 0.4666 0.4961 0.3885 0.3241 0.5131 0.5397 0.7948 0.3415 0.3849 0.3569 hom 291.99 14 9 136308542 . C T 291.99 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.470;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5592;MQ=60.00;MQ0=0;MQRankSum=0.134;QD=20.86;ReadPosRankSum=0.935;VQSLOD=4.2436;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,13:14:27.07:325,27,0 9 136328657 136328657 T C exonic CACFD1 synonymous SNV CACFD1:NM_001135775:exon2:c.T174C:p.I58I,CACFD1:NM_001242369:exon2:c.T174C:p.I58I,CACFD1:NM_001242370:exon2:c.T174C:p.I58I,CACFD1:NM_017586:exon2:c.T174C:p.I58I 0.84 0.7 0.89 0.94 0.84 0.89 0.8342 0.6968 0.8673 0.9348 0.8255 0.8316 0.8403 0.8585 0.8 0.7 0.85 0.83 0.89 rs3124765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8385 0.7006 0.8693 0.7440 0.9330 0.8240 0.8390 0.8317 0.8603 0.8050 0.6932 0.8505 0.7867 0.9408 0.8247 0.8453 0.8551 het 1491.90 196 9 136328657 . T C 1491.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.102;DP=196;Dels=0.00;FS=5.791;HRun=0;HaplotypeScore=2.5119;MQ=59.46;MQ0=0;MQRankSum=-0.373;QD=7.61;ReadPosRankSum=-0.072;VQSLOD=4.6314;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,68:196:99:1522,0,3430 9 136340200 136340200 T G exonic SLC2A6 synonymous SNV SLC2A6:NM_001145099:exon6:c.A810C:p.P270P,SLC2A6:NM_017585:exon6:c.A810C:p.P270P 0.73 0.48 0.78 0.94 0.7 0.85 0.7402 0.5453 0.8097 0.9344 0.7161 0.7145 0.7163 0.8066 0.64 0.52 0.7 0.72 0.58 rs2073935 COSM3763724 1(liver);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7301 0.5163 0.7935 0.6240 0.9335 0.6769 0.7064 0.7083 0.7993 0.6709 0.5153 0.7512 0.6523 0.9427 0.6892 0.7201 0.7235 het 283.23 16 9 136340200 . T G 283.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.440;DP=16;Dels=0.00;FS=2.307;HRun=4;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=0.163;QD=17.70;ReadPosRankSum=0.380;VQSLOD=6.2148;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,10:16:99:313,0,143 9 136379890 136379890 A G exonic MYMK synonymous SNV MYMK:NM_001080483:exon5:c.T534C:p.Y178Y 0.64 0.63 0.78 0.69 0.61 0.53 0.6086 0.6361 0.7803 0.6613 0.4575 0.6030 0.5872 0.5274 0.64 0.65 0.63 0.64 0.62 rs17758315 COSM4163498 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6185 0.6359 0.7818 0.6225 0.6631 0.4601 0.6141 0.6289 0.5343 0.5977 0.6351 0.7524 0.6167 0.6574 0.4505 0.5968 0.5701 het 1161.93 91 9 136379890 . A G 1161.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.279;DP=91;Dels=0.00;FS=6.163;HRun=0;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;MQRankSum=-0.958;QD=12.77;ReadPosRankSum=-0.886;VQSLOD=4.5771;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,49:91:99:1192,0,1052 9 136412170 136412170 C T exonic ADAMTSL2 synonymous SNV ADAMTSL2:NM_001145320:exon9:c.C774T:p.D258D,ADAMTSL2:NM_014694:exon9:c.C774T:p.D258D 0.72 0.76 0.69 0.52 0.91 0.72 0.8194 0.7879 0.6125 0.5216 0.8739 0.9109 0.8466 0.7468 0.88 0.79 0.92 0.83 0.89 rs2073874 . . Benign Geleophysic_dysplasia RCV000304229.1 MedGen:Orphanet C3489726:ORPHA2623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8138 0.7902 0.6240 0.9037 0.5224 0.8721 0.9152 0.8427 0.7519 0.8525 0.7956 0.6933 0.8907 0.5167 0.8817 0.9227 0.8571 hom 8291.67 250 9 136412170 . C T 8291.67 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5625;MQ=59.34;MQ0=0;QD=33.17;VQSLOD=7.4000;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8291,683,0 9 136412236 136412236 A T exonic ADAMTSL2 synonymous SNV ADAMTSL2:NM_001145320:exon9:c.A840T:p.A280A,ADAMTSL2:NM_014694:exon9:c.A840T:p.A280A 0.72 0.76 0.69 0.52 0.91 0.72 0.8197 0.7880 0.6129 0.5211 0.8740 0.9113 0.8466 0.7472 0.88 0.79 0.92 0.83 0.89 rs2073875 . . Benign Geleophysic_dysplasia RCV000361313.1 MedGen:Orphanet C3489726:ORPHA2623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8141 0.7902 0.6241 0.9049 0.5226 0.8722 0.9154 0.8429 0.7524 0.8523 0.7953 0.6926 0.8907 0.5149 0.8817 0.9228 0.8571 hom 8021.12 231 9 136412236 . A T 8021.12 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.877;DP=231;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=59.21;MQ0=0;MQRankSum=-0.382;QD=34.72;ReadPosRankSum=0.907;VQSLOD=9.3418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,230:231:99:7985,609,0 9 136412255 136412255 A C exonic ADAMTSL2 synonymous SNV ADAMTSL2:NM_001145320:exon9:c.A859C:p.R287R,ADAMTSL2:NM_014694:exon9:c.A859C:p.R287R 0.72 0.76 0.69 0.52 0.91 0.72 0.8198 0.7881 0.6130 0.5215 0.8737 0.9113 0.8473 0.7472 0.88 0.79 0.92 0.83 0.88 rs2073876 . . Benign Geleophysic_dysplasia RCV000397418.1 MedGen:Orphanet C3489726:ORPHA2623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8141 0.7902 0.6241 0.9049 0.5226 0.8722 0.9154 0.8432 0.7524 0.8523 0.7957 0.6926 0.8907 0.5155 0.8817 0.9228 0.8554 hom 7824.62 244 9 136412255 . A C 7824.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.577;DP=244;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5989;MQ=59.09;MQ0=0;MQRankSum=1.590;QD=32.07;ReadPosRankSum=0.021;VQSLOD=7.9908;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,243:244:99:7786,631,0 9 136505114 136505114 A G exonic DBH synonymous SNV DBH:NM_000787:exon2:c.A486G:p.E162E 0.43 0.68 0.4 0.12 0.54 0.32 0.4599 0.6521 0.2634 0.1283 0.5016 0.5324 0.4452 0.3440 0.57 0.65 0.53 0.47 0.47 rs1108580 COSM1460845 1(thyroid);1(large_intestine) Benign Dopamine_beta_hydroxylase_deficiency RCV000201821.2 MedGen:OMIM C1857209:223360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4498 0.6607 0.2841 0.4615 0.1255 0.4984 0.5378 0.4625 0.3497 0.5391 0.6684 0.3165 0.4404 0.1328 0.4862 0.5363 0.5081 hom 1591.35 53 9 136505114 . A G 1591.35 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.03;VQSLOD=13.8696;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1624,123,0 9 136518097 136518097 A G exonic DBH synonymous SNV DBH:NM_000787:exon9:c.A1410G:p.T470T 0.62 0.57 0.59 0.9 0.52 0.52 0.5571 0.5761 0.6979 0.9171 0.4871 0.4948 0.5711 0.5360 0.53 0.57 0.5 0.66 0.53 rs77905 COSM35319 1(bone);1(thyroid);6(large_intestine) Benign Dopamine_beta_hydroxylase_deficiency RCV000402576.1 MedGen:OMIM C1857209:223360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5649 0.5792 0.6982 0.4735 0.9181 0.4891 0.5012 0.5252 0.5364 0.5452 0.5668 0.6480 0.4467 0.9105 0.4802 0.5051 0.5309 het 1647.30 130 9 136518097 . A G 1647.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.277;DP=130;Dels=0.00;FS=0.656;HRun=1;HaplotypeScore=1.5779;MQ=59.49;MQ0=0;MQRankSum=1.690;QD=12.67;ReadPosRankSum=1.620;VQSLOD=6.0543;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,65:130:99:1677,0,1699 9 136536679 136536679 G A exonic SARDH synonymous SNV SARDH:NM_001134707:exon18:c.C2304T:p.I768I,SARDH:NM_007101:exon18:c.C2304T:p.I768I 0.58 0.65 0.59 0.76 0.45 0.45 0.5262 0.6124 0.6981 0.7615 0.5070 0.4586 0.5397 0.4879 0.48 0.58 0.43 0.58 0.39 rs129932 COSM3763727;COSM3763728 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5027 0.5864 0.6701 0.4121 0.7601 0.4469 0.4316 0.4805 0.4570 0.5066 0.5917 0.6193 0.4106 0.7299 0.4420 0.4451 0.4814 het 341.91 27 9 136536679 . G A 341.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.354;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3990;MQ=58.37;MQ0=0;MQRankSum=0.946;QD=12.66;ReadPosRankSum=-0.364;VQSLOD=6.0086;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,14:27:99:372,0,330 9 136536793 136536793 C G exonic SARDH synonymous SNV SARDH:NM_001134707:exon18:c.G2190C:p.V730V,SARDH:NM_007101:exon18:c.G2190C:p.V730V 0.63 0.71 0.6 0.8 0.48 0.52 0.5734 0.6721 0.7129 0.7996 0.5207 0.5125 0.6018 0.5381 0.52 0.64 0.46 0.63 0.36 rs2519123 COSM3763729;COSM3763730 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5353 0.6479 0.6783 0.4916 0.7936 0.4635 0.4570 0.5157 0.5128 0.5422 0.6466 0.6376 0.5067 0.7679 0.4645 0.4721 0.5184 het 337.03 25 9 136536793 . C G 337.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.855;DP=25;Dels=0.00;FS=1.851;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=-0.471;QD=13.48;ReadPosRankSum=-1.304;VQSLOD=5.5442;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,15:25:99:367,0,270 9 136555629 136555629 T C exonic SARDH nonsynonymous SNV SARDH:NM_001134707:exon16:c.A1942G:p.M648V,SARDH:NM_007101:exon16:c.A1942G:p.M648V 0.55 0.84 0.49 0.44 0.44 0.44 0.4415 0.7761 0.5113 0.4444 0.3760 0.3833 0.4498 0.4401 0.52 0.76 0.39 0.61 0.4 rs886016 . . . . . . . . . . . . . 0.979 0.020 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.182 P -2.53 0.001 N -0.59 0.716 T 0.89 0.017 N 0.011 0.062 -0.951 0.409 T 0.000 0.000 T . . . 0.181 0.111 4.479 0.339 0.020 0.321 0.243 N c -0.856 -0.540 1.000 0.747 0.696 0.567 0 5.02 0.666 2.922 0.483 -0.492 0.052 0.996 0.391 0.600 0.289 8.554 0.325 Glycine cleavage T-protein-like\x2c N-terminal ENSG00000197859.5|ENSG00000225756.1|ENSG00000225756.1 Artery_Tibial|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.4381 0.7814 0.5064 0.3711 0.4409 0.3789 0.3865 0.4213 0.4373 0.5019 0.7739 0.5107 0.3907 0.4287 0.3705 0.3894 0.4177 het 1294.75 127 9 136555629 . T C 1294.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.778;DP=127;Dels=0.00;FS=9.574;HRun=0;HaplotypeScore=2.6547;MQ=58.83;MQ0=0;MQRankSum=0.980;QD=10.19;ReadPosRankSum=0.280;VQSLOD=4.7252;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,55:127:99:1325,0,1908 9 136561367 136561367 G A exonic SARDH synonymous SNV SARDH:NM_001134707:exon14:c.C1785T:p.S595S,SARDH:NM_007101:exon14:c.C1785T:p.S595S . . . . . . 0.2784 0.1445 0.1783 0.1056 0.3469 0.3459 0.2804 0.2225 0.28 0.15 0.34 0.18 0.31 rs2502740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2793 0.1394 0.1953 0.3648 0.1054 0.3448 0.3425 0.3203 0.2270 0.2710 0.1534 0.2208 0.3311 0.1020 0.3551 0.3375 0.3045 het 1286.05 93 9 136561367 . G A 1286.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.977;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3985;MQ=59.25;MQ0=0;MQRankSum=0.265;QD=13.83;ReadPosRankSum=1.372;VQSLOD=6.4098;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,47:93:99:1316,0,1198 9 136573412 136573412 G A exonic SARDH synonymous SNV SARDH:NM_001134707:exon11:c.C1467T:p.H489H,SARDH:NM_007101:exon11:c.C1467T:p.H489H 0.42 0.23 0.46 0.49 0.56 0.46 0.5120 0.2646 0.3797 0.4677 0.6048 0.5819 0.5379 0.4625 0.47 0.27 0.58 0.35 0.41 rs2073815 COSM455557 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5127 0.2582 0.3938 0.5956 0.4744 0.6062 0.5795 0.5419 0.4498 0.4824 0.2721 0.4079 0.5132 0.4603 0.625 0.5730 0.5502 het 1562.65 101 9 136573412 . G A 1562.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.070;DP=101;Dels=0.00;FS=0.870;HRun=0;HaplotypeScore=0.7340;MQ=59.54;MQ0=0;MQRankSum=-1.047;QD=15.47;ReadPosRankSum=0.119;VQSLOD=5.9849;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,55:101:99:1593,0,1051 9 136599146 136599146 C T exonic SARDH synonymous SNV SARDH:NM_001134707:exon2:c.G150A:p.Q50Q,SARDH:NM_007101:exon2:c.G150A:p.Q50Q 0.22 0.084 0.24 0.31 0.3 0.22 0.2699 0.1302 0.2291 0.2993 0.3582 0.2988 0.2842 0.2179 0.24 0.13 0.29 0.17 0.2 rs573904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2689 0.1222 0.2233 0.2666 0.2985 0.3534 0.2963 0.2678 0.2172 0.2478 0.1198 0.2172 0.2433 0.2782 0.3672 0.2891 0.3088 het 873.64 66 9 136599146 . C T 873.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.329;DP=66;Dels=0.00;FS=2.155;HRun=1;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;MQRankSum=-1.089;QD=13.24;ReadPosRankSum=-0.073;VQSLOD=6.3206;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,36:66:99:904,0,778 9 136643994 136643994 T C exonic VAV2 nonsynonymous SNV VAV2:NM_003371:exon20:c.A1750G:p.M584V,VAV2:NM_001134398:exon22:c.A1780G:p.M594V 0.5 0.84 0.48 0.065 0.52 0.46 0.5016 0.8045 0.4149 0.0535 0.4945 0.5257 0.4866 0.5124 0.62 0.8 0.53 0.48 0.43 rs602990 COSM150742;COSM3724128 1(stomach);2(liver);1(prostate);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.805 0.057 T 0.0 0.026 B 0.0 0.013 B 0.005 0.329 N 1.000 0.186 P -0.655 0.021 N 3.35 0.060 T 0.97 0.015 N 0.02 0.004 -1.032 0.200 T 0.000 0.000 T . . . -0.716 0.044 0.066 0.370 0.024 0.039 0.092 N c -1.582 -1.416 0.999 0.375 0.672 0.522 0 1.91 0.247 0.954 0.286 -1.744 0.007 0.362 0.256 0.853 0.356 13.649 0.616 SH3 domain;SH3 domain|Variant SH3 domain . . 0.4929 0.8090 0.4302 0.5042 0.0517 0.5002 0.5277 0.5090 0.5144 0.5778 0.7957 0.4653 0.56 0.0531 0.5003 0.5361 0.5246 het 1395.14 104 9 136643994 . T C 1395.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.444;DP=104;Dels=0.00;FS=0.745;HRun=0;HaplotypeScore=5.6715;MQ=59.11;MQ0=0;MQRankSum=1.286;QD=13.41;ReadPosRankSum=-1.397;VQSLOD=4.9716;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,59:104:99:1425,0,1159 9 136662928 136662928 A G exonic VAV2 synonymous SNV VAV2:NM_003371:exon9:c.T825C:p.L275L,VAV2:NM_001134398:exon10:c.T840C:p.L280L 0.26 0.51 0.25 0.086 0.17 0.2 0.2253 0.4641 0.2480 0.0790 0.2231 0.2019 0.2021 0.2323 0.29 0.46 0.2 0.28 0.16 rs7865299 COSM5618769;COSM5618768 2(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2181 0.4628 0.2452 0.1929 0.0752 0.2129 0.1995 0.2085 0.2278 0.2682 0.4549 0.2249 0.1921 0.0617 0.2136 0.2026 0.2112 het 520.45 40 9 136662928 . A G 520.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.447;DP=40;Dels=0.00;FS=5.633;HRun=1;HaplotypeScore=1.9655;MQ=58.84;MQ0=0;MQRankSum=-0.801;QD=13.01;ReadPosRankSum=1.082;VQSLOD=4.8207;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,21:40:99:550,0,534 9 136907005 136907005 G A exonic BRD3 synonymous SNV BRD3:NM_007371:exon8:c.C1284T:p.P428P 0.34 0.05 0.26 0.67 0.29 0.48 0.3479 0.0872 0.3315 0.6521 0.4109 0.3093 0.4031 0.4776 0.21 0.086 0.28 0.27 0.31 rs467387 COSM3763733;COSM3763734 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3411 0.0809 0.3168 0.3397 0.6555 0.3948 0.2905 0.3334 0.4628 0.2630 0.0821 0.2936 0.3510 0.6388 0.3843 0.2905 0.3514 het 358.45 33 9 136907005 . G A 358.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.402;DP=33;Dels=0.00;FS=7.624;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=1.220;QD=10.86;ReadPosRankSum=0.273;VQSLOD=4.3003;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,14:33:99:388,0,511 9 136913355 136913355 T C exonic BRD3 synonymous SNV BRD3:NM_007371:exon6:c.A936G:p.L312L 0.72 0.87 0.54 0.68 0.68 0.75 0.6835 0.8228 0.5033 0.6577 0.7638 0.6725 0.7114 0.7461 0.71 0.82 0.65 0.66 0.7 rs464826 COSM4163508;COSM4163507 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6734 0.8279 0.5131 0.7483 0.6594 0.7712 0.6573 0.6779 0.7423 0.7163 0.8291 0.5537 0.7616 0.6419 0.7678 0.6547 0.7168 het 720.06 61 9 136913355 . T C 720.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.653;DP=61;Dels=0.00;FS=5.163;HRun=0;HaplotypeScore=3.9831;MQ=58.90;MQ0=0;MQRankSum=0.722;QD=11.80;ReadPosRankSum=-0.197;VQSLOD=5.3636;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,26:61:99:750,0,928 9 137005023 137005023 C T exonic WDR5 synonymous SNV WDR5:NM_052821:exon1:c.C24T:p.P8P,WDR5:NM_017588:exon2:c.C24T:p.P8P 0.32 0.2 0.44 0.36 0.42 0.26 0.4087 0.2146 0.4909 0.3775 0.4085 0.4556 0.3996 0.2998 0.37 0.21 0.44 0.37 0.24 rs11556390 COSM4163511 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4136 0.2109 0.4881 0.4488 0.3714 0.3990 0.4561 0.4252 0.2999 0.3762 0.2148 0.5108 0.4570 0.3582 0.4084 0.4532 0.4078 het 1178.34 79 9 137005023 . C T 1178.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.662;DP=79;Dels=0.00;FS=0.906;HRun=0;HaplotypeScore=0.8941;MQ=59.47;MQ0=0;MQRankSum=0.240;QD=14.92;ReadPosRankSum=-0.152;VQSLOD=5.9964;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,40:79:99:1208,0,1092 9 137619195 137619195 C T exonic COL5A1 synonymous SNV COL5A1:NM_000093:exon5:c.C738T:p.T246T,COL5A1:NM_001278074:exon5:c.C738T:p.T246T 0.34 0.042 0.55 0.41 0.47 0.41 0.4290 0.0927 0.6166 0.3976 0.4714 0.4486 0.4648 0.4282 0.33 0.097 0.45 0.34 0.25 rs3124299 COSM3763736 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);2(large_intestine) Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_type_7A RCV000124481.4|RCV000374462.1 MedGen|MedGen CN169374|CN071434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4470 0.0900 0.6022 0.6201 0.3943 0.4703 0.4410 0.4646 0.4313 0.3483 0.1013 0.5813 0.5894 0.3879 0.4757 0.4339 0.4440 het 2132.38 154 9 137619195 . C T 2132.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.484;DP=154;Dels=0.00;FS=2.996;HRun=0;HaplotypeScore=2.1146;MQ=58.88;MQ0=0;MQRankSum=1.032;QD=13.85;ReadPosRankSum=-0.255;VQSLOD=6.3740;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,80:154:99:2162,0,1720 9 137710863 137710863 C T exonic COL5A1 synonymous SNV COL5A1:NM_000093:exon57:c.C4410T:p.P1470P,COL5A1:NM_001278074:exon57:c.C4410T:p.P1470P 0.0018 0.0023 0.0014 0.001 0.003 0.001 0.0018 0.0030 0.0022 0.0014 0.0009 0.0021 0 0.0006 0.0023 0.0034 0.0017 . . rs41310953 . . other|Benign|Likely benign not_specified|Ehlers-Danlos_syndrome\x2c_classic_type|Ehlers-Danlos_syndrome\x2c_type_7A RCV000124457.4|RCV000204098.3|RCV000311390.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT|MedGen CN169374|C0268335:130000:ORPHA287:20766005:83470009|CN071434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0027 0.0018 0 0.0010 0.0014 0.0026 0.0005 0.0006 0.0024 0.0017 0.0060 0 0.0006 0.0014 0.0030 0.0031 het 1142.26 99 9 137710863 . C T 1142.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.908;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=58.94;MQ0=0;MQRankSum=0.865;QD=11.54;ReadPosRankSum=0.872;VQSLOD=5.9568;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,46:99:99:1172,0,1296 9 137711997 137711997 G C exonic COL5A1 synonymous SNV COL5A1:NM_000093:exon58:c.G4482C:p.P1494P,COL5A1:NM_001278074:exon58:c.G4482C:p.P1494P 0.41 0.54 0.33 0.38 0.34 0.39 0.3750 0.5067 0.3169 0.3825 0.3500 0.3643 0.3650 0.3823 0.43 0.51 0.38 0.36 0.35 rs2228560 COSM5009847 1(oesophagus);1(large_intestine) Benign|Benign|Likely benign\x2cBenign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_classic_type|Ehlers-Danlos_syndrome\x2c_type_7A\x2cnot_specified|Ehlers-Danlos_syndrome\x2c_type_7A RCV000179202.4|RCV000204057.2|RCV000368361.1\x2cRCV000124459.4|RCV000405317.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT|MedGen\x2cMedGen|MedGen CN169374|C0268335:130000:ORPHA287:20766005:83470009|CN071434\x2cCN169374|CN071434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3683 0.5029 0.3133 0.3413 0.3836 0.3478 0.3664 0.3638 0.3843 0.4055 0.4893 0.3122 0.3477 0.3835 0.3546 0.3798 0.3694 het 1450.98 138 9 137711997 . G C 1450.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.051;DP=138;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9996;MQ=59.59;MQ0=0;MQRankSum=0.396;QD=10.51;ReadPosRankSum=-0.603;VQSLOD=6.4030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,62:138:99:1481,0,1946 9 137775155 137775155 T C exonic FCN2 synonymous SNV FCN2:NM_015837:exon2:c.T108C:p.R36R,FCN2:NM_004108:exon3:c.T222C:p.R74R 0.38 0.32 0.3 0.41 0.37 0.47 0.3633 0.3396 0.2603 0.4372 0.3668 0.3570 0.3404 0.4368 0.35 0.34 0.35 0.35 0.39 rs4520243 COSM4163517 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3604 0.3322 0.2646 0.4672 0.4364 0.3637 0.3505 0.3652 0.4350 0.3466 0.3327 0.2971 0.4503 0.4466 0.3834 0.3347 0.3655 het 1008.14 96 9 137775155 . T C 1008.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.888;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9980;MQ=59.35;MQ0=0;MQRankSum=0.056;QD=10.50;ReadPosRankSum=0.049;VQSLOD=6.7587;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,44:96:99:1038,0,1250 9 137801800 137801800 T C exonic FCN1 synonymous SNV FCN1:NM_002003:exon9:c.A825G:p.Q275Q 0.68 0.95 0.48 0.47 0.63 0.74 0.6411 0.9085 0.3802 0.4897 0.6590 0.6437 0.6244 0.7174 0.73 0.91 0.64 0.76 0.64 rs1071583 COSM3763738 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6250 0.9119 0.4023 0.6162 0.4848 0.6650 0.6426 0.6097 0.7167 0.7075 0.8998 0.4642 0.6291 0.5329 0.6647 0.6430 0.6534 hom 8309.96 249 9 137801800 . T C 8309.96 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8648;MQ=59.16;MQ0=0;QD=33.37;VQSLOD=8.5828;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8309,647,0 9 137804360 137804360 A G exonic FCN1 synonymous SNV FCN1:NM_002003:exon7:c.T570C:p.N190N 0.67 0.91 0.47 0.47 0.62 0.74 0.6271 0.8687 0.3708 0.4841 0.6403 0.6296 0.6064 0.7139 0.71 0.87 0.62 0.74 0.52 rs2274845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6113 0.8714 0.3907 0.5983 0.4813 0.6460 0.6293 0.5955 0.7120 0.6887 0.8587 0.4499 0.6060 0.5323 0.6489 0.6338 0.6491 hom 1677.58 61 9 137804360 . A G 1677.58 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8216;MQ=60.00;MQ0=0;QD=27.50;VQSLOD=6.3435;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1711,153,0 9 137982127 137982127 T C exonic OLFM1 synonymous SNV OLFM1:NM_001282611:exon2:c.T237C:p.A79A,OLFM1:NM_001282612:exon2:c.T156C:p.A52A,OLFM1:NM_006334:exon2:c.T183C:p.A61A,OLFM1:NM_014279:exon2:c.T183C:p.A61A 0.78 0.88 0.63 0.68 0.88 0.76 0.8303 0.8847 0.6326 0.7090 0.8024 0.8871 0.8341 0.7800 0.89 0.88 0.9 0.79 0.87 rs500461 COSM5021653 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8195 0.8880 0.6387 0.8451 0.7101 0.7940 0.8946 0.8392 0.7791 0.8580 0.8913 0.6687 0.8808 0.7100 0.8051 0.8799 0.8122 hom 1619.69 52 9 137982127 . T C 1619.69 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;QD=31.15;VQSLOD=9.1371;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1653,129,0 9 138377498 138377498 G T exonic PPP1R26 nonsynonymous SNV PPP1R26:NM_014811:exon4:c.G1142T:p.R381L 0.023 0.003 0.048 . 0.075 0.002 0.0489 0.0102 0.0213 0 0.1146 0.0702 0.0542 0.0070 0.048 0.011 0.067 0.054 0.033 rs34151777 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D 0.002 0.375 N 0.002 0.441 P 2.085 0.579 M 2.3 0.170 T -6.03 0.897 D 0.238 0.291 -1.132 0.017 T 0.009 0.030 T . . . 5.726 0.782 26.9 0.998 0.883 0.958 0.661 D c 0.470 0.371 1.000 0.747 0.672 0.522 0 4.92 0.640 4.398 0.592 0.953 0.551 1.000 0.715 0.082 0.182 17.114 0.865 Protein phosphatase 1 regulatory subunit 26\x2c N-terminal domain . . 0.0502 0.0099 0.0231 0.0363 0 0.1125 0.0723 0.0538 0.0078 0.0567 0.0124 0.0334 0.0397 0 0.1183 0.0741 0.0847 het 985.23 82 9 138377498 . G T 985.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.411;DP=82;Dels=0.00;FS=0.900;HRun=0;HaplotypeScore=3.9226;MQ=59.47;MQ0=0;MQRankSum=-0.364;QD=12.01;ReadPosRankSum=-0.903;VQSLOD=5.2716;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,39:82:99:1015,0,1104 9 138378856 138378856 A G exonic PPP1R26 nonsynonymous SNV PPP1R26:NM_014811:exon4:c.A2500G:p.N834D 0.89 0.99 0.94 0.78 0.84 0.9 0.8498 0.9696 0.9340 0.7848 0.8343 0.8209 0.8423 0.8773 0.87 0.97 0.82 0.91 0.8 rs2078266 COSM4163521 1(kidney);1(pancreas);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.207 P -2.505 0.001 N 3.84 0.037 T 4.13 0.001 N 0.035 0.015 -0.983 0.344 T 0.000 0.000 T . . . 0.377 0.130 6.410 0.467 0.037 0.082 0.140 N c -1.028 -0.790 1.000 0.747 0.696 0.567 0 4.77 0.603 6.197 0.718 -0.232 0.094 1.000 0.715 0.772 0.328 12.265 0.538 Protein phosphatase 1 regulatory subunit 26\x2c N-terminal domain . . 0.8516 0.9714 0.9276 0.7824 0.7860 0.8377 0.8250 0.8540 0.8750 0.8720 0.9718 0.9366 0.7815 0.7975 0.8293 0.8318 0.8459 hom 7149.34 247 9 138378856 . A G 7149.34 Mask AC=2;AF=1.00;AN=2;DP=247;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3386;MQ=59.27;MQ0=0;QD=28.94;VQSLOD=6.8361;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:247:99:7148,584,0 9 138379002 138379002 T G exonic PPP1R26 synonymous SNV PPP1R26:NM_014811:exon4:c.T2646G:p.P882P 1. 1. 1. 1. 0.99 1. 0.9871 0.9961 0.9968 0.9998 0.9892 0.9794 0.9885 0.9977 0.99 1. 0.98 1. 0.87 rs1975518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9883 0.9968 0.9968 0.9919 0.9999 0.9874 0.9800 0.9903 0.9972 0.9895 0.9967 0.9952 0.9868 1 0.9888 0.9840 0.9898 hom 2761.59 84 9 138379002 . T G 2761.59 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9782;MQ=58.75;MQ0=0;QD=32.88;VQSLOD=9.1004;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2795,238,0 9 138439806 138439806 C T exonic OBP2A nonsynonymous SNV OBP2A:NM_001293193:exon3:c.C233T:p.A78V,OBP2A:NM_001293189:exon4:c.C367T:p.R123C,OBP2A:NM_014582:exon4:c.C367T:p.R123C 0.15 0.03 0.13 0.16 0.25 0.2 0.2138 0.0565 0.1127 0.1552 0.2484 0.2579 0.2179 0.2233 0.2 0.065 0.26 0.098 0.22 rs72766543 COSM5038189;COSM5038188 1(skin);1(biliary_tract) . . . . . . . . . . . 0.177 0.281 T 0.832 0.488 P 0.308 0.396 B 0.264 0.037 N 1 0.090 P 0 0.065 N 2.74 0.117 T 0.03 0.066 N 0.077 0.168 -1.024 0.226 T 0.000 0.000 T . . . 1.215 0.212 11.82 0.905 0.192 0.000 0.002 N c -1.265 -1.428 0.000 0.056 0.487 0.133 0 -2.08 0.068 -4.644 0.002 -0.656 0.041 0.000 0.063 0.001 0.043 2.138 0.035 Calycin|Calycin-like;Calycin|Calycin-like|Lipocalin/cytosolic fatty-acid binding domain . . 0.2121 0.0524 0.1225 0.2600 0.1564 0.2533 0.2571 0.2220 0.2122 0.1920 0.0532 0.1516 0.2433 0.1693 0.2436 0.2615 0.2433 het 832.27 58 9 138439806 . C T 832.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.879;DP=58;Dels=0.00;FS=3.832;HRun=0;HaplotypeScore=4.4358;MQ=59.28;MQ0=0;MQRankSum=-0.801;QD=14.35;ReadPosRankSum=-0.117;VQSLOD=4.4685;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,30:58:99:862,0,682 9 138439809 138439809 T C exonic OBP2A nonsynonymous SNV OBP2A:NM_001293193:exon3:c.T236C:p.L79P,OBP2A:NM_001293189:exon4:c.T370C:p.Y124H,OBP2A:NM_014582:exon4:c.T370C:p.Y124H 0.15 0.058 0.13 0.16 0.25 0.2 0.2168 0.0881 0.1140 0.1553 0.2484 0.2580 0.2179 0.2238 0.2 0.093 0.26 0.098 0.23 rs72766544 COSM5505291;COSM5505290 1(biliary_tract) . . . . . . . . . . . 0.623 0.082 T 0.0 0.026 B 0.001 0.040 B 0.768 0.096 N 1 0.090 P -0.6 0.022 N 2.82 0.109 T 1.38 0.009 N 0.022 0.023 -0.928 0.445 T 0.000 0.000 T . . . -1.101 0.028 0.010 0.088 0.001 0.001 0.005 N c -1.885 -1.865 0.000 0.048 0.487 0.133 0 -0.067 0.130 -1.734 0.019 -0.758 0.034 0.000 0.063 0.000 0.016 1.140 0.016 Calycin|Calycin-like;Calycin|Calycin-like|Lipocalin/cytosolic fatty-acid binding domain . . 0.2149 0.0833 0.1247 0.2615 0.1568 0.2535 0.2576 0.2230 0.2128 0.2000 0.0810 0.1551 0.2433 0.1687 0.2436 0.2614 0.2439 het 844.77 57 9 138439809 . T C 844.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.009;DP=57;Dels=0.00;FS=3.796;HRun=1;HaplotypeScore=3.5691;MQ=59.27;MQ0=0;MQRankSum=-0.966;QD=14.82;ReadPosRankSum=-0.056;VQSLOD=5.2020;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,29:57:99:875,0,695 9 138440554 138440554 G C exonic OBP2A nonsynonymous SNV OBP2A:NM_001293193:exon4:c.G320C:p.G107A,OBP2A:NM_001293189:exon5:c.G454C:p.V152L,OBP2A:NM_014582:exon5:c.G389C:p.G130A 0.17 0.13 0.14 0.16 0.25 0.2 0.2202 0.1441 0.1174 0.1561 0.2483 0.2576 0.2201 0.2116 0.23 0.15 0.26 0.12 0.19 rs55695858 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.998 0.875 D . . . 0.999 0.219 P 2.68 0.787 M 2.88 0.103 T -4.14 0.860 D 0.163 0.373 -1.046 0.154 T 0.000 0.000 T . . . 2.513 0.363 19.55 0.973 0.330 0.042 0.096 N c -0.370 -0.509 0.001 0.083 0.487 0.133 0 2.49 0.291 0.625 0.240 0.804 0.326 0.011 0.184 0.007 0.100 8.655 0.330 Calycin|Calycin-like;Calycin|Calycin-like|Lipocalin/cytosolic fatty-acid binding domain . . 0.2206 0.1389 0.1284 0.2600 0.1576 0.2549 0.2603 0.2294 0.2138 0.2188 0.1421 0.1579 0.2483 0.1716 0.2438 0.2637 0.2469 het 1172.37 115 9 138440554 . G C 1172.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.893;DP=115;Dels=0.00;FS=5.080;HRun=0;HaplotypeScore=2.5769;MQ=57.95;MQ0=0;MQRankSum=-1.059;QD=10.19;ReadPosRankSum=1.476;VQSLOD=3.3883;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,46:115:99:1202,0,1919 9 138440562 138440562 C T exonic OBP2A nonsynonymous SNV OBP2A:NM_001293193:exon4:c.C328T:p.P110S,OBP2A:NM_014582:exon5:c.C397T:p.P133S 0.18 0.16 0.14 0.16 0.25 0.2 0.2224 0.1710 0.1179 0.1557 0.2480 0.2574 0.2201 0.2116 0.24 0.18 0.26 0.13 0.19 rs3178137 . . . . . . . . . . . . . 0.292 0.205 T 0.842 0.446 P 0.563 0.478 P . . . 1 0.090 P 1.045 0.269 L 2.77 0.114 T -6.43 0.913 D 0.043 0.069 -0.927 0.446 T 0.000 0.000 T . . . -0.573 0.051 0.145 0.981 0.376 0.004 0.022 N c -0.917 -1.073 0.000 0.029 0.487 0.133 0 0.488 0.160 0.312 0.190 -0.065 0.121 0.000 0.063 0.001 0.043 5.038 0.137 Calycin|Calycin-like;Calycin|Calycin-like|Lipocalin/cytosolic fatty-acid binding domain . . 0.2223 0.1676 0.1288 0.2601 0.1575 0.2550 0.2602 0.2301 0.2138 0.2272 0.1725 0.1591 0.2483 0.1716 0.2437 0.2631 0.2505 het 1286.84 123 9 138440562 . C T 1286.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.957;DP=123;Dels=0.00;FS=0.738;HRun=1;HaplotypeScore=5.3728;MQ=58.00;MQ0=0;MQRankSum=1.127;QD=10.46;ReadPosRankSum=0.141;VQSLOD=4.2989;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,51:123:99:1317,0,1946 9 138440641 138440641 T C exonic OBP2A nonsynonymous SNV OBP2A:NM_001293193:exon4:c.T407C:p.M136T,OBP2A:NM_001293189:exon5:c.T541C:p.C181R,OBP2A:NM_014582:exon5:c.T476C:p.M159T 0.84 0.82 0.86 0.99 0.74 0.81 0.7778 0.8136 0.8810 0.9725 0.6995 0.7350 0.75 0.7870 0.77 0.82 0.74 0.64 0.76 rs2853652 . . . . . . . . . . . . . 1.0 0.097 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.255 0.038 N 3.07 0.086 T -1.21 0.307 N 0.047 0.028 -1.058 0.121 T 0.000 0.000 T . . . -2.086 0.007 0.001 0.176 0.005 0.002 0.012 N c -1.992 -2.056 0.000 0.071 0.487 0.133 0 -4.77 0.030 -2.126 0.014 -0.494 0.052 0.000 0.063 0.001 0.043 4.198 0.098 Calycin|Calycin-like;Calycin|Calycin-like|Lipocalin/cytosolic fatty-acid binding domain . . 0.7803 0.8116 0.8777 0.6467 0.9743 0.7046 0.7424 0.7619 0.7879 0.7680 0.8032 0.8604 0.6457 0.9635 0.7017 0.7389 0.7671 het 1451.40 156 9 138440641 . T C 1451.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.872;DP=156;Dels=0.00;FS=10.622;HRun=0;HaplotypeScore=4.4055;MQ=58.56;MQ0=0;MQRankSum=-0.462;QD=9.30;ReadPosRankSum=-2.251;VQSLOD=2.3593;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,68:156:99:1481,0,2399 9 138516119 138516119 G A exonic GLT6D1 nonsynonymous SNV GLT6D1:NM_182974:exon5:c.C655T:p.P219S 0.035 0.017 0.039 . 0.066 0.061 0.0621 0.0271 0.0263 0.0002 0.0602 0.0774 0.0621 0.0829 0.059 0.026 0.075 0.054 0.11 rs17040344 COSM5522760 1(NS);1(skin) . . . . . . . . . . . 0.11 0.291 T 0.997 0.689 D 0.878 0.605 P 0.010 0.301 N 0.997 0.227 N 2.38 0.688 M 4.89 0.015 T -6.96 0.935 D 0.065 0.051 -1.040 0.174 T 0.001 0.005 T . . . 1.807 0.278 15.03 0.987 0.451 0.711 0.346 D c 0.004 -0.180 0.002 0.091 0.615 0.372 0 2.6 0.300 3.651 0.539 0.138 0.222 1.000 0.715 0.001 0.043 9.395 0.374 Nucleotide-diphospho-sugar transferases . . 0.0593 0.0276 0.0277 0.0540 0.0003 0.0548 0.0787 0.0573 0.0782 0.0549 0.0275 0.0382 0.0331 0.0006 0.0504 0.0780 0.0714 het 1512.93 165 9 138516119 . G A 1512.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.627;DP=165;Dels=0.00;FS=1.255;HRun=0;HaplotypeScore=0.8667;MQ=59.15;MQ0=0;MQRankSum=-0.410;QD=9.17;ReadPosRankSum=-0.647;VQSLOD=6.3830;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,64:165:99:1543,0,2873 9 138518010 138518010 A G exonic GLT6D1 synonymous SNV GLT6D1:NM_182974:exon4:c.T162C:p.P54P 0.97 0.9 0.99 0.99 1. 1. 0.9920 0.9112 0.9957 0.9984 1 0.9997 0.9978 0.9998 0.97 0.91 1. 0.97 1. rs1333240 COSM4163524 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9934 0.9117 0.9959 0.9996 0.9989 0.9997 0.9992 0.9969 0.9999 0.9758 0.9157 0.9940 1 1 1 0.9999 0.9939 hom 2605.07 87 9 138518010 . A G 2605.07 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.4998;MQ=57.24;MQ0=0;QD=29.94;VQSLOD=4.1919;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2638,235,0 9 138586198 138586198 G A exonic SOHLH1 synonymous SNV SOHLH1:NM_001012415:exon7:c.C981T:p.P327P 0.86 0.62 0.91 0.97 0.93 0.94 0.9096 0.6627 0.9243 0.9783 0.9626 0.9266 0.9297 0.9256 0.83 0.67 0.92 0.79 0.75 rs572335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9127 0.6558 0.9231 0.8760 0.9787 0.9637 0.9245 0.9143 0.9242 0.8621 0.6682 0.9081 0.87 0.9877 0.9630 0.9307 0.9243 hom 1439.77 44 9 138586198 . G A 1439.77 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.08;MQ0=0;QD=32.72;VQSLOD=8.7111;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1473,117,0 9 138586966 138586966 G A exonic SOHLH1 nonsynonymous SNV SOHLH1:NM_001012415:exon6:c.C805T:p.P269S,SOHLH1:NM_001101677:exon6:c.C805T:p.P269S 0.88 0.7 0.93 0.97 0.93 0.94 0.9238 0.7660 0.9298 0.9797 0.9653 0.9299 0.9373 0.9296 0.87 0.77 0.92 . 0.53 rs3119932 COSM3763745;COSM3763746 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.844 0.042 T 0.015 0.170 B 0.01 0.139 B . . . 1 0.090 P 0.94 0.237 L 1.53 0.325 T -1.5 0.366 N 0.065 0.051 -1.030 0.204 T 0.000 0.000 T . . . -1.201 0.025 0.007 0.400 0.028 0.019 0.058 N c -1.699 -1.715 0.786 0.239 0.570 0.322 0 -1.84 0.073 -0.571 0.059 -1.286 0.014 0.000 0.063 0.000 0.016 6.598 0.217 . . . 0.9205 0.7366 0.9272 0.8792 0.9791 0.9643 0.9247 0.9203 0.9254 0.8806 0.7364 0.9125 0.8709 0.9864 0.9630 0.9286 0.9322 hom 270.50 10 9 138586966 . G A 270.50 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=27.05;VQSLOD=6.6646;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:303,24,0 9 138586967 138586967 C A exonic SOHLH1 synonymous SNV SOHLH1:NM_001012415:exon6:c.G804T:p.G268G,SOHLH1:NM_001101677:exon6:c.G804T:p.G268G 0.88 0.7 0.92 0.97 0.93 0.94 0.9230 0.7636 0.9289 0.9794 0.9642 0.9294 0.9362 0.9295 0.87 0.77 0.92 . 0.52 rs3119933 COSM3763748;COSM3763747 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9202 0.7349 0.9270 0.8792 0.9790 0.9643 0.9244 0.9203 0.9252 0.8806 0.7364 0.9125 0.8709 0.9864 0.9630 0.9287 0.9322 hom 265.03 10 9 138586967 . C A 265.03 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=26.50;VQSLOD=7.0196;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:298,24,0 9 138590928 138590928 C T exonic SOHLH1 nonsynonymous SNV SOHLH1:NM_001012415:exon2:c.G110A:p.R37Q,SOHLH1:NM_001101677:exon2:c.G110A:p.R37Q 0.81 0.77 0.83 0.66 0.92 0.89 0.8792 0.8036 0.7839 0.6921 0.9517 0.9243 0.9114 0.8794 0.88 0.82 0.91 0.73 0.33 rs471525 COSM3763749;COSM3763750 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B . . . 1 0.090 P -0.895 0.014 N 1.39 0.338 T 0.32 0.040 N 0.013 0.041 -0.964 0.384 T 0.000 0.000 T . . . -0.961 0.033 0.019 0.885 0.174 0.005 0.023 N c -2.026 -2.066 1.000 0.413 0.581 0.326 0 -5.41 0.024 -1.730 0.019 -0.904 0.026 0.000 0.063 0.000 0.016 2.389 0.041 . . . 0.8710 0.7944 0.7806 0.8724 0.6829 0.9511 0.9204 0.8891 0.8756 0.8717 0.7960 0.7943 0.8609 0.6869 0.9487 0.9199 0.9094 hom 1178.21 33 9 138590928 . C T 1178.21 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5212;MQ=58.59;MQ0=0;QD=35.70;VQSLOD=7.9739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:99:1211,99,0 9 138591266 138591266 A G exonic SOHLH1 synonymous SNV SOHLH1:NM_001012415:exon1:c.T48C:p.P16P,SOHLH1:NM_001101677:exon1:c.T48C:p.P16P 0.81 0.77 0.83 0.67 0.92 0.9 0.8810 0.7966 0.7797 0.6747 0.9507 0.9287 0.9119 0.8934 0.88 0.8 0.92 0.6 0.75 rs559326 COSM4163527;COSM4163528 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8770 0.7932 0.7835 0.8858 0.6821 0.9520 0.9274 0.8954 0.8909 0.8772 0.8002 0.7967 0.8940 0.6879 0.9505 0.9273 0.9119 het 370.37 17 9 138591266 . A G 370.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.102;DP=17;Dels=0.00;FS=3.590;HRun=3;HaplotypeScore=0.9867;MQ=56.95;MQ0=0;MQRankSum=0.919;QD=21.79;ReadPosRankSum=-0.510;VQSLOD=2.9915;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:1,16:17:2.46:399,0,2 9 138662273 138662273 G A exonic KCNT1 synonymous SNV KCNT1:NM_001272003:exon16:c.G1614A:p.A538A,KCNT1:NM_020822:exon17:c.G1749A:p.A583A 0.36 0.49 0.18 0.41 0.22 0.37 0.2680 0.4814 0.1771 0.4206 0.3080 0.2096 0.2783 0.3362 0.3 0.47 0.21 0.32 0.23 rs17038714 . . other not_specified RCV000117359.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2583 0.4822 0.1765 0.1510 0.4186 0.3224 0.2078 0.2258 0.3212 0.3159 0.4669 0.1909 0.1589 0.4067 0.3204 0.2291 0.2898 het 2368.90 193 9 138662273 . G A 2368.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.762;DP=193;Dels=0.00;FS=1.175;HRun=0;HaplotypeScore=3.3239;MQ=59.29;MQ0=0;MQRankSum=1.485;QD=12.27;ReadPosRankSum=0.092;VQSLOD=5.6173;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,90:193:99:2399,0,2740 9 138669261 138669261 G A exonic KCNT1 synonymous SNV KCNT1:NM_001272003:exon20:c.G2292A:p.T764T,KCNT1:NM_020822:exon21:c.G2427A:p.T809T 0.65 0.55 0.69 0.57 0.68 0.82 0.6687 0.5563 0.6535 0.5981 0.7605 0.6680 0.6817 0.7523 0.63 0.57 0.67 0.54 0.7 rs914428 COSM4407020;COSM4407019 2(liver) other not_specified RCV000117363.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6693 0.5570 0.6591 0.4955 0.5896 0.7633 0.6762 0.6446 0.7477 0.6606 0.5669 0.6527 0.4868 0.6097 0.7613 0.6965 0.7285 het 2371.21 187 9 138669261 . G A 2371.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.268;DP=187;Dels=0.00;FS=13.271;HRun=0;HaplotypeScore=2.9311;MQ=59.49;MQ0=0;MQRankSum=1.020;QD=12.68;ReadPosRankSum=0.217;VQSLOD=4.4014;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,92:187:99:2401,0,2252 9 138710347 138710347 C T exonic CAMSAP1 nonsynonymous SNV CAMSAP1:NM_015447:exon13:c.G4075A:p.G1359S 0.0008 . . . 0.004 . 0.0028 0.0001 0 0 0.0391 0.0013 0.0104 0 0.0002 . 0.0002 . . rs145211136 . . . . . . . . . . . . . 0.538 0.076 T 0.504 0.353 P 0.029 0.203 B 0.022 0.268 N 1 0.090 N 1.7 0.440 L 2.54 0.140 T -0.18 0.103 N 0.103 0.107 -1.034 0.193 T 0.019 0.080 T . . . 2.016 0.303 16.31 0.786 0.119 0.182 0.199 N c -0.458 -0.470 0.998 0.359 0.719 0.830 0 3.46 0.386 1.486 0.349 0.935 0.490 0.043 0.209 0.084 0.183 10.936 0.463 . . . 0.0032 6.711e-05 5.973e-05 0 0 0.0334 0.0008 0.0020 0 0.0049 0 0 0 0 0.0332 0.0019 0.0071 het 425.08 31 9 138710347 . C T 425.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.766;DP=31;Dels=0.00;FS=3.407;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=0.258;QD=13.71;ReadPosRankSum=-1.171;VQSLOD=4.6043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,17:31:99:455,0,368 9 138742077 138742077 C G exonic CAMSAP1 synonymous SNV CAMSAP1:NM_015447:exon7:c.G951C:p.P317P 0.12 0.21 0.088 . 0.13 0.15 0.1534 0.2187 0.0745 0.0008 0.0979 0.1749 0.1256 0.1815 0.19 0.2 0.18 0.098 . rs35981196 COSM3763753;COSM3763754 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1384 0.2054 0.0697 0.0953 0.0006 0.0995 0.1733 0.1290 0.1751 0.1556 0.2084 0.0730 0.1225 0.0006 0.0970 0.1618 0.1365 het 107.35 18 9 138742077 . C G 107.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.380;DP=18;Dels=0.00;FS=2.345;HRun=2;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-1.281;QD=5.96;ReadPosRankSum=0.296;VQSLOD=4.1705;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:137,0,390 9 138838140 138838140 T C exonic UBAC1 synonymous SNV UBAC1:NM_016172:exon5:c.A519G:p.A173A 0.98 0.93 1. 1. 1. 1. 0.9942 0.9370 0.9980 1 1 0.9997 0.9967 0.9998 0.98 0.94 1. 0.97 1. rs7028495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9952 0.9354 0.9968 0.9982 1 1.0000 0.9996 0.9969 0.9997 0.9834 0.9420 0.9976 1 1 1 0.9997 0.9969 hom 3825.48 136 9 138838140 . T C 3825.48 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.680;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7046;MQ=59.19;MQ0=0;MQRankSum=-0.273;QD=28.13;ReadPosRankSum=1.107;VQSLOD=8.1057;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,135:136:99:3825,301,0 9 138905136 138905136 C T exonic NACC2 synonymous SNV NACC2:NM_144653:exon5:c.G1164A:p.T388T 0.46 0.55 0.47 0.45 0.43 0.4 0.4342 0.5272 0.4700 0.4451 0.4393 0.4210 0.4318 0.3961 0.45 0.51 0.42 0.51 0.46 rs2280486 COSM3763759 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4345 0.5292 0.4700 0.3592 0.4458 0.4425 0.4257 0.4286 0.3932 0.4623 0.5260 0.4785 0.3874 0.4252 0.4464 0.4369 0.4119 het 766.20 46 9 138905136 . C T 766.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.758;DP=46;Dels=0.00;FS=7.688;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.816;QD=16.66;ReadPosRankSum=0.356;VQSLOD=4.4473;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,27:46:99:796,0,501 9 139100805 139100805 T C exonic QSOX2 synonymous SNV QSOX2:NM_181701:exon12:c.A1866G:p.P622P 0.16 0.023 0.21 0.12 0.29 0.21 0.2524 0.0700 0.1941 0.1439 0.3208 0.3018 0.2483 0.2387 0.23 0.083 0.3 0.15 0.26 rs9696116 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2536 0.0661 0.1989 0.2236 0.1445 0.3230 0.3054 0.2517 0.2397 0.2273 0.0696 0.2254 0.2219 0.1375 0.3110 0.3072 0.2663 het 1214.60 108 9 139100805 . T C 1214.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.377;DP=108;Dels=0.00;FS=0.741;HRun=1;HaplotypeScore=1.8317;MQ=59.79;MQ0=0;MQRankSum=-0.102;QD=11.25;ReadPosRankSum=-0.924;VQSLOD=6.2246;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,48:108:99:1245,0,1790 9 139110654 139110654 C T exonic QSOX2 synonymous SNV QSOX2:NM_181701:exon8:c.G957A:p.K319K 0.15 0.0098 0.21 0.12 0.29 0.2 0.2442 0.0545 0.1686 0.1411 0.3215 0.2958 0.2449 0.2299 0.22 0.063 0.3 0.14 0.27 rs12684650 COSM3982772 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2449 0.0483 0.1773 0.2102 0.1430 0.3238 0.3003 0.2409 0.2293 0.2219 0.0546 0.2029 0.2252 0.1468 0.3132 0.3048 0.2658 het 1911.27 131 9 139110654 . C T 1911.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.916;DP=131;Dels=0.00;FS=4.356;HRun=0;HaplotypeScore=1.7608;MQ=59.38;MQ0=0;MQRankSum=1.268;QD=14.59;ReadPosRankSum=-0.940;VQSLOD=5.9996;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,78:131:99:1941,0,1469 9 139252495 139252495 G A exonic GPSM1 synonymous SNV GPSM1:NM_001145639:exon4:c.G324A:p.P108P,GPSM1:NM_001200003:exon4:c.G324A:p.P108P,GPSM1:NM_001145638:exon14:c.G1851A:p.P617P 0.75 0.79 0.53 0.95 0.67 0.73 0.6864 0.7747 0.5533 0.9506 0.6328 0.6534 0.7135 0.7374 0.7 0.77 0.67 0.59 0.67 rs3812547 COSM3721974 1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6803 0.7703 0.5536 0.6589 0.9529 0.6238 0.6600 0.6685 0.7437 0.6926 0.7643 0.5873 0.6391 0.9604 0.6132 0.6503 0.6495 hom 1930.35 72 9 139252495 . G A 1930.35 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.230;DP=72;Dels=0.00;FS=4.500;HRun=0;HaplotypeScore=4.6934;MQ=60.00;MQ0=0;MQRankSum=0.678;QD=26.81;ReadPosRankSum=0.527;VQSLOD=3.8405;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,68:72:99:1963,143,0 9 139252603 139252603 C T exonic GPSM1 synonymous SNV GPSM1:NM_001145639:exon4:c.C432T:p.A144A,GPSM1:NM_001200003:exon4:c.C432T:p.A144A,GPSM1:NM_001145638:exon14:c.C1959T:p.A653A 0.012 . 0.0058 0.001 0.014 0.04 0.0268 0.0040 0.0089 0.0008 0.0127 0.0268 0.0406 0.0589 0.012 0.003 0.017 . 0.0082 rs139501733 COSM3699541 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0176 0.0021 0.0072 0.0160 0.0002 0.0070 0.0189 0.0206 0.0472 0.0097 0.0029 0.0084 0.0331 0 0.0077 0.0145 0.0133 het 243.07 25 9 139252603 . C T 243.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.968;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=0.250;QD=9.72;ReadPosRankSum=1.525;VQSLOD=4.7352;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,10:25:99:273,0,364 9 139273402 139273402 C T exonic SNAPC4 synonymous SNV SNAPC4:NM_003086:exon21:c.G2877A:p.A959A 0.78 0.99 0.65 0.85 0.69 0.63 0.7190 0.9461 0.6705 0.8541 0.7029 0.6940 0.6728 0.6469 0.77 0.94 0.69 0.54 0.51 rs3812567 COSM4163542 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7038 0.9473 0.6576 0.7024 0.8510 0.7001 0.6833 0.6950 0.6310 0.7759 0.9385 0.6718 0.7351 0.8453 0.6967 0.7016 0.7306 het 196.67 11 9 139273402 . C T 196.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.003;DP=11;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.296;QD=17.88;ReadPosRankSum=0.825;VQSLOD=5.2281;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:2,9:11:38.98:227,0,39 9 139276430 139276430 G A exonic SNAPC4 synonymous SNV SNAPC4:NM_003086:exon17:c.C2163T:p.H721H 0.11 0.0068 0.11 0.002 0.18 0.27 0.1785 0.0378 0.1096 0.0052 0.2021 0.2020 0.1911 0.2863 0.14 0.04 0.2 0.054 0.15 rs34850728 COSM4408630 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1668 0.0294 0.1117 0.2155 0.0035 0.1818 0.1891 0.1749 0.2773 0.1423 0.0347 0.1181 0.1788 0.0012 0.1781 0.2088 0.1976 het 469.52 33 9 139276430 . G A 469.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.293;DP=33;Dels=0.00;FS=5.440;HRun=0;HaplotypeScore=2.6195;MQ=59.30;MQ0=0;MQRankSum=-1.147;QD=14.23;ReadPosRankSum=-0.018;VQSLOD=4.9051;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,19:33:99:500,0,329 9 139306467 139306467 C T exonic PMPCA synonymous SNV PMPCA:NM_015160:exon2:c.C90T:p.Y30Y 0.14 0.033 0.27 0.14 0.16 0.17 0.1697 0.0544 0.2878 0.1513 0.1022 0.1751 0.1624 0.1718 0.13 0.053 0.17 0.087 0.15 rs10870144 COSM4407074 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1672 0.0507 0.2744 0.1269 0.1435 0.0927 0.1731 0.1608 0.1681 0.1240 0.0546 0.2422 0.1159 0.1533 0.0902 0.1635 0.1110 het 433.21 41 9 139306467 . C T 433.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.098;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=0.548;QD=10.57;ReadPosRankSum=-0.949;VQSLOD=6.7143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,16:41:99:463,0,813 9 139326304 139326304 G A exonic INPP5E synonymous SNV INPP5E:NM_001318502:exon7:c.C1518T:p.H506H,INPP5E:NM_019892:exon7:c.C1521T:p.H507H 0.12 0.015 0.24 0.14 0.12 0.16 0.1427 0.0398 0.2744 0.1489 0.0807 0.1323 0.1489 0.1656 0.1 0.038 0.13 0.087 0.074 rs10870188 COSM1162712 1(pancreas);1(large_intestine) other|Likely benign not_specified|Joubert_syndrome RCV000117267.4|RCV000262680.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1416 0.0349 0.2632 0.1095 0.1465 0.0693 0.1304 0.1338 0.1614 0.0889 0.0362 0.2211 0.0925 0.1517 0.0593 0.1126 0.0879 het 522.80 37 9 139326304 . G A 522.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.269;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9924;MQ=57.28;MQ0=0;MQRankSum=0.744;QD=14.13;ReadPosRankSum=-0.258;VQSLOD=3.9854;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,18:37:99:553,0,464 9 139327439 139327439 A G exonic INPP5E synonymous SNV INPP5E:NM_001318502:exon5:c.T1248C:p.T416T,INPP5E:NM_019892:exon5:c.T1248C:p.T416T 0.38 0.39 0.62 0.19 0.41 0.35 0.4194 0.3952 0.5833 0.1957 0.3390 0.4490 0.4007 0.3505 0.44 0.4 0.46 0.39 0.39 rs10781542 . . other|Benign not_specified|Joubert_syndrome RCV000117264.3|RCV000400377.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4198 0.3908 0.5705 0.4404 0.1905 0.3317 0.4510 0.4352 0.3398 0.4028 0.4020 0.5430 0.4834 0.1863 0.3380 0.4340 0.3765 het 813.86 62 9 139327439 . A G 813.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.915;DP=62;Dels=0.00;FS=2.188;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.605;QD=13.13;ReadPosRankSum=-0.169;VQSLOD=6.5534;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,31:62:99:844,0,774 9 139328551 139328551 T C exonic INPP5E synonymous SNV INPP5E:NM_001318502:exon3:c.A972G:p.P324P,INPP5E:NM_019892:exon3:c.A972G:p.P324P 0.12 0.0068 0.24 0.16 0.13 0.15 0.1596 0.0336 0.2966 0.1706 0.1028 0.1503 0.1618 0.1823 0.1 0.031 0.14 0.098 0.082 rs10870199 COSM3763772 1(large_intestine) other|Likely benign not_specified|Joubert_syndrome RCV000117276.4|RCV000297520.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1441 0.0268 0.2635 0.1136 0.1544 0.0684 0.1343 0.1352 0.1623 0.0908 0.0284 0.2291 0.0927 0.1562 0.0624 0.1189 0.0900 het 52.01 17 9 139328551 . T C 52.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.791;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.053;QD=3.06;ReadPosRankSum=1.107;VQSLOD=9.2654;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,5:17:82.01:82,0,352 9 139368681 139368681 G A exonic SEC16A synonymous SNV SEC16A:NM_001276418:exon2:c.C3387T:p.S1129S,SEC16A:NM_014866:exon3:c.C3387T:p.S1129S 0.021 0.0023 0.026 0.001 0.041 0.044 0.0479 0.0118 0.0209 0.0017 0.0224 0.0622 0.0569 0.0595 0.045 0.012 0.062 0.022 . rs45459100 COSM3763775;COSM3763774 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0424 0.0104 0.0202 0.0503 0.0004 0.0201 0.0601 0.0437 0.0564 0.0312 0.0115 0.0263 0.0530 0.0006 0.0209 0.0483 0.0326 het 411.82 18 9 139368681 . G A 411.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.584;DP=18;Dels=0.00;FS=2.735;HRun=0;HaplotypeScore=0.8941;MQ=58.71;MQ0=0;MQRankSum=1.009;QD=22.88;ReadPosRankSum=0.372;VQSLOD=3.1504;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,14:18:90.48:442,0,90 9 139370217 139370217 G A exonic SEC16A synonymous SNV SEC16A:NM_001276418:exon2:c.C1851T:p.H617H,SEC16A:NM_014866:exon3:c.C1851T:p.H617H 0.027 0.003 0.045 . 0.07 0.032 0.0695 0.0162 0.0427 0.0017 0.1295 0.0895 0.0599 0.0472 0.052 0.015 0.07 . . rs76562693 COSM1319634;COSM1319633 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0525 0.0105 0.0263 0.0345 0.0008 0.0997 0.0690 0.0539 0.0418 0.0575 0.0120 0.0191 0.0199 0.0006 0.0928 0.0840 0.0703 het 117.71 20 9 139370217 . G A 117.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.060;DP=20;Dels=0.00;FS=2.315;HRun=2;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;MQRankSum=1.902;QD=5.89;ReadPosRankSum=-0.792;VQSLOD=4.2485;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,7:20:99:148,0,384 9 139371234 139371234 G A exonic SEC16A synonymous SNV SEC16A:NM_001276418:exon2:c.C834T:p.D278D,SEC16A:NM_014866:exon3:c.C834T:p.D278D 0.14 0.039 0.3 0.16 0.12 0.16 0.1513 0.0574 0.3474 0.1483 0.0701 0.1337 0.1487 0.1758 0.11 0.055 0.14 0.13 . rs10781497 COSM4418918;COSM4418919 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1560 0.0552 0.3354 0.1173 0.1482 0.0679 0.1358 0.1446 0.1667 0.1001 0.0566 0.2739 0.1026 0.1516 0.0591 0.1201 0.0959 het 438.29 61 9 139371234 . G A 438.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.223;DP=61;Dels=0.00;FS=2.342;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;MQRankSum=-0.880;QD=7.19;ReadPosRankSum=0.226;VQSLOD=5.4722;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,19:61:99:468,0,1077 9 139371786 139371786 A C exonic SEC16A synonymous SNV SEC16A:NM_001276418:exon2:c.T282G:p.V94V,SEC16A:NM_014866:exon3:c.T282G:p.V94V 0.38 0.43 0.61 0.22 0.41 0.3 0.4092 0.4200 0.5780 0.1998 0.3254 0.4394 0.3884 0.3059 0.43 0.4 0.45 0.4 . rs6560632 COSM3745904;COSM3745903 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4145 0.4233 0.5678 0.4388 0.1996 0.3257 0.4453 0.4310 0.3052 0.4061 0.4285 0.5371 0.4834 0.1929 0.3321 0.4263 0.3802 het 1215.14 116 9 139371786 . A C 1215.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.014;DP=116;Dels=0.00;FS=3.599;HRun=0;HaplotypeScore=2.6270;MQ=59.08;MQ0=0;MQRankSum=1.195;QD=10.48;ReadPosRankSum=0.966;VQSLOD=5.7328;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,46:116:99:1245,0,1940 9 139391636 139391636 G A exonic NOTCH1 synonymous SNV NOTCH1:NM_017617:exon34:c.C6555T:p.D2185D 0.7 0.63 0.65 0.95 0.58 0.67 0.6187 0.6321 0.7332 0.9474 0.5150 0.5490 0.6105 0.6780 0.58 0.64 0.55 0.66 0.57 rs2229974 COSM3763782;COSM3763781 1(breast);1(skin);1(large_intestine) Benign not_specified RCV000313125.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6212 0.6274 0.7272 0.5379 0.9504 0.5169 0.5511 0.5880 0.6782 0.5914 0.6176 0.6734 0.5232 0.9635 0.4977 0.5569 0.5553 hom 3104.57 97 9 139391636 . G A 3104.57 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;QD=32.01;VQSLOD=9.6586;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3138,256,0 9 139397707 139397707 G A exonic NOTCH1 synonymous SNV NOTCH1:NM_017617:exon27:c.C5094T:p.D1698D 0.55 0.56 0.51 0.9 0.4 0.38 0.4443 0.5290 0.6031 0.8860 0.3960 0.3662 0.4384 0.3833 0.41 0.52 0.35 0.6 0.34 rs10521 COSM1461158;COSM33747 12(haematopoietic_and_lymphoid_tissue);13(soft_tissue);1(lung);4(upper_aerodigestive_tract);7(large_intestine) Benign not_specified RCV000434401.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4482 0.5303 0.5881 0.3465 0.8883 0.3964 0.3644 0.4178 0.3861 0.4460 0.5089 0.5240 0.3245 0.8969 0.3810 0.3772 0.3943 het 591.27 64 9 139397707 . G A 591.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.404;DP=64;Dels=0.00;FS=0.979;HRun=0;HaplotypeScore=3.7759;MQ=58.23;MQ0=0;MQRankSum=-0.992;QD=9.24;ReadPosRankSum=0.770;VQSLOD=4.8553;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,24:64:99:621,0,1010 9 139407932 139407932 A G exonic NOTCH1 synonymous SNV NOTCH1:NM_017617:exon14:c.T2265C:p.N755N 0.53 0.7 0.48 0.78 0.34 0.27 0.3977 0.6376 0.5858 0.7952 0.4357 0.2998 0.3662 0.2942 0.4 0.62 0.29 0.56 0.31 rs2229971 COSM3763787;COSM3763788 1(large_intestine) Benign not_specified RCV000435319.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4001 0.6396 0.5685 0.2309 0.7944 0.4302 0.2966 0.3533 0.2919 0.4428 0.6200 0.5024 0.2152 0.8152 0.4293 0.3095 0.3599 het 815.26 63 9 139407932 . A G 815.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.486;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=-0.416;QD=12.94;ReadPosRankSum=1.655;VQSLOD=6.1185;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,30:63:99:845,0,869 9 139418260 139418260 A G exonic NOTCH1 synonymous SNV NOTCH1:NM_017617:exon3:c.T312C:p.N104N 0.74 0.95 0.6 0.84 0.51 0.69 0.5970 0.8963 0.6756 0.8564 0.6045 0.4879 0.5742 0.6626 0.61 0.88 0.47 0.77 0.33 rs4489420 COSM1756049;COSM1756050 2(urinary_tract) Benign not_specified RCV000367819.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5872 0.8968 0.6713 0.5142 0.8466 0.5898 0.4708 0.5372 0.6473 0.6424 0.8853 0.6388 0.46 0.8547 0.6006 0.4952 0.5837 het 256.81 25 9 139418260 . A G 256.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.087;DP=25;Dels=0.00;FS=1.707;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=-0.202;QD=10.27;ReadPosRankSum=2.569;VQSLOD=5.1364;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:287,0,281 9 139616742 139616742 A G exonic FAM69B nonsynonymous SNV FAM69B:NM_152421:exon4:c.A472G:p.S158G 0.83 0.53 0.95 1. 0.96 0.83 0.9227 0.6142 0.9672 0.9991 0.9734 0.9589 0.9516 0.8734 0.84 0.62 0.96 0.77 0.9 rs945384 . . . . . . . . . . . . . 0.201 0.203 T 0.0 0.026 B 0.001 0.040 B 0.011 0.298 N 0.999 0.212 P 1.7 0.440 L 0.85 0.471 T -1.28 0.358 N 0.014 0.032 -0.997 0.307 T 0.000 0.000 T . . . 2.040 0.306 16.46 0.987 0.438 0.705 0.343 D c -0.421 -0.323 1.000 0.747 0.646 0.442 0 0.846 0.180 1.552 0.356 1.121 0.882 0.982 0.353 0.999 0.750 8.050 0.296 FAM69\x2c N-terminal . . 0.9307 0.6053 0.9653 0.9436 0.9989 0.9734 0.9596 0.9439 0.8719 0.8657 0.6166 0.9582 0.9238 0.9994 0.9785 0.9596 0.9205 hom 1097.53 33 9 139616742 . A G 1097.53 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.26;VQSLOD=13.9680;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:90.28:1131,90,0 9 139617626 139617626 G A exonic FAM69B synonymous SNV FAM69B:NM_152421:exon5:c.G696A:p.E232E 0.26 0.33 0.31 0.18 0.23 0.24 0.2514 0.3320 0.4093 0.1792 0.2259 0.2205 0.2302 0.2632 0.26 0.33 0.23 0.25 0.24 rs7038042 COSM3721731 2(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2534 0.3315 0.3859 0.1321 0.1820 0.2235 0.2302 0.2266 0.2576 0.2613 0.3315 0.3807 0.1258 0.1875 0.2192 0.2363 0.2316 het 1283.07 108 9 139617626 . G A 1283.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.781;DP=108;Dels=0.00;FS=9.316;HRun=1;HaplotypeScore=2.5380;MQ=59.44;MQ0=0;MQRankSum=1.026;QD=11.88;ReadPosRankSum=-0.756;VQSLOD=4.4285;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,47:108:99:1313,0,1616 9 139617662 139617662 T C exonic FAM69B synonymous SNV FAM69B:NM_152421:exon5:c.T732C:p.L244L 0.34 0.42 0.38 0.18 0.34 0.35 0.3448 0.4309 0.4655 0.1808 0.2953 0.3350 0.3115 0.3529 0.37 0.41 0.34 0.29 0.3 rs11849 COSM3750163 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3461 0.4317 0.4515 0.2829 0.1829 0.2900 0.3456 0.3270 0.3454 0.3557 0.4386 0.4522 0.2583 0.1891 0.2991 0.3375 0.3231 het 1409.75 107 9 139617662 . T C 1409.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.655;DP=107;Dels=0.00;FS=9.129;HRun=2;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=0.897;QD=13.18;ReadPosRankSum=0.133;VQSLOD=3.8319;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,54:107:99:1440,0,1480 9 139657834 139657834 G C exonic LCN15 synonymous SNV LCN15:NM_203347:exon4:c.C393G:p.A131A 0.7 0.55 0.78 0.86 0.78 0.62 0.7351 0.5893 0.6712 0.8722 0.6911 0.7741 0.7638 0.6521 0.71 0.59 0.78 0.62 0.75 rs9987876 COSM455615 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7306 0.5859 0.6870 0.7557 0.8688 0.6897 0.7735 0.7440 0.6364 0.7113 0.5937 0.6887 0.7252 0.8699 0.6989 0.7686 0.6767 het 832.10 88 9 139657834 . G C 832.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.445;DP=88;Dels=0.00;FS=0.896;HRun=0;HaplotypeScore=1.8455;MQ=59.74;MQ0=0;MQRankSum=-0.101;QD=9.46;ReadPosRankSum=-0.473;VQSLOD=5.7333;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,37:88:99:862,0,1245 9 139701108 139701108 A C exonic CCDC183 nonsynonymous SNV CCDC183:NM_001039374:exon11:c.A1262C:p.N421T 0.81 0.82 0.7 0.86 0.8 0.81 0.8060 0.8141 0.7607 0.8721 0.8388 0.7959 0.8169 0.8252 0.81 0.82 0.8 0.85 0.79 rs2254143 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.39 0.006 N 2.84 0.107 T 0.76 0.020 N 0.013 0.002 -1.054 0.132 T 0.000 0.000 T . . . 0.297 0.123 5.667 0.323 0.019 0.003 0.017 N c -1.198 -1.078 1.000 0.747 0.658 0.486 0 5.07 0.680 0.384 0.202 0.067 0.174 0.000 0.063 0.000 0.016 11.089 0.471 . ENSG00000213213.9|ENSG00000213213.9 Adipose_Subcutaneous|Esophagus_Mucosa 0.8050 0.8132 0.7613 0.8175 0.8733 0.8393 0.7934 0.8063 0.8230 0.8152 0.8166 0.7835 0.7947 0.8700 0.8334 0.8060 0.8204 hom 1948.93 59 9 139701108 . A C 1948.93 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9916;MQ=59.61;MQ0=0;QD=33.03;VQSLOD=9.0428;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1982,156,0 9 139726239 139726239 A G exonic RABL6 synonymous SNV RABL6:NM_001173988:exon6:c.A525G:p.G175G,RABL6:NM_001173989:exon6:c.A525G:p.G175G,RABL6:NM_024718:exon6:c.A525G:p.G175G 0.82 0.87 0.73 0.76 0.89 0.79 0.8475 0.8813 0.7275 0.7711 0.9375 0.8791 0.8576 0.7874 0.87 0.89 0.86 0.79 . rs2811748 COSM4163584;COSM4163585;COSM4163586 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8434 0.8832 0.7387 0.8975 0.7655 0.9375 0.8729 0.8438 0.7892 0.8766 0.8856 0.7566 0.9106 0.7713 0.9349 0.8756 0.8712 hom 2382.63 81 9 139726239 . A G 2382.63 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8154;MQ=59.72;MQ0=0;QD=29.42;VQSLOD=8.4054;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2416,196,0 9 139732462 139732462 C T exonic RABL6 synonymous SNV RABL6:NM_001173988:exon10:c.C1278T:p.S426S,RABL6:NM_024718:exon10:c.C1275T:p.S425S 0.1 0.0091 0.22 0.012 0.21 0.13 0.2347 0.0423 0.4275 0.0237 0.4898 0.2908 0.2647 0.1744 0.14 0.032 0.19 0.098 . rs2811740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1957 0.0289 0.2665 0.1865 0.0060 0.3260 0.2029 0.1922 0.1655 0.1615 0.0354 0.2518 0.1854 0.0043 0.3244 0.2042 0.2269 het 158.39 13 9 139732462 . C T 158.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.312;DP=13;Dels=0.00;FS=2.522;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.935;QD=12.18;ReadPosRankSum=-1.200;VQSLOD=5.3319;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,7:13:99:188,0,144 9 139748483 139748483 G A exonic MAMDC4 nonsynonymous SNV MAMDC4:NM_206920:exon6:c.G625A:p.A209T 0.04 0.0008 0.035 0.001 0.088 0.087 0.0695 0.0161 0.0228 0.0001 0.1163 0.0884 0.0658 0.0779 0.064 0.021 0.086 0.033 0.041 rs45449193 COSM5063783;COSM5063784 1(stomach) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.686 0.102 N 1 0.090 N 0.515 0.136 N 4.45 0.022 T -0.65 0.199 N 0.026 0.357 -1.017 0.246 T 0.001 0.004 T . . . -1.151 0.027 0.008 0.775 0.115 0.035 0.085 N c -1.340 -1.478 1.000 0.747 0.696 0.573 0 -5.55 0.023 -0.170 0.098 -1.956 0.005 0.000 0.063 0.039 0.156 6.845 0.230 Concanavalin A-like lectin/glucanase domain|MAM domain ENSG00000177239.10|ENSG00000176978.9 Adipose_Subcutaneous|Cells_Transformed_fibroblasts 0.0686 0.0144 0.0255 0.0593 0.0006 0.1189 0.0881 0.0701 0.0767 0.0744 0.0160 0.0274 0.0331 0.0006 0.1169 0.1095 0.0827 het 2289.07 223 9 139748483 . G A 2289.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.037;DP=223;Dels=0.00;FS=6.815;HRun=0;HaplotypeScore=5.2801;MQ=58.55;MQ0=0;MQRankSum=0.173;QD=10.26;ReadPosRankSum=-0.472;VQSLOD=4.3816;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:126,97:223:99:2319,0,3208 9 139749067 139749067 C T exonic MAMDC4 synonymous SNV MAMDC4:NM_206920:exon8:c.C873T:p.R291R 0.79 0.89 0.56 0.88 0.76 0.76 0.7636 0.8603 0.5828 0.8807 0.7540 0.7591 0.7793 0.7812 0.79 0.85 0.75 0.85 0.51 rs7869864 COSM3763797;COSM3763798 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7434 0.8515 0.5761 0.7694 0.8795 0.7405 0.7500 0.7407 0.7708 0.7880 0.8605 0.6046 0.7815 0.8779 0.7294 0.7629 0.7449 hom 747.66 27 9 139749067 . C T 747.66 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=27.69;VQSLOD=7.0906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:63.19:781,63,0 9 139752899 139752899 T G exonic MAMDC4 nonsynonymous SNV MAMDC4:NM_206920:exon22:c.T2722G:p.W908G . . . . . . 0.7448 0.8430 0.5548 0.8838 0.7266 0.7401 0.7411 0.7741 0.76 0.83 0.73 0.75 0.53 rs2275156 COSM3763801;COSM3763802 5(large_intestine) . . . . . . . . . . . 0.193 0.209 T 0.181 0.408 B 0.287 0.445 B 0.112 0.193 N 0.999 0.217 P 1.21 0.306 L 4.67 0.018 T -4.66 0.794 D 0.217 0.428 -1.019 0.241 T 0.000 0.000 T . . . 3.409 0.468 23.0 0.839 0.145 0.050 0.107 N c -0.548 -0.607 1.000 0.517 0.660 0.495 0 1.29 0.206 -0.002 0.128 -0.265 0.087 0.001 0.137 0.444 0.261 3.767 0.081 Concanavalin A-like lectin/glucanase domain|MAM domain ENSG00000054148.13|ENSG00000238268.2|ENSG00000232434.1|ENSG00000054148.13|ENSG00000054148.13|ENSG00000238268.2 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7366 0.8404 0.5737 0.7672 0.8834 0.7264 0.7392 0.7329 0.7695 0.7794 0.8494 0.6019 0.78 0.8810 0.7203 0.7536 0.7439 hom 1240.01 40 9 139752899 . T G 1240.01 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9469;MQ=58.36;MQ0=0;QD=31.00;VQSLOD=8.7444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:40:99:1273,105,0 9 139839904 139839904 T G exonic C8G synonymous SNV C8G:NM_000606:exon1:c.T132G:p.A44A 0.57 0.58 0.42 0.7 0.54 0.55 0.5666 0.5915 0.4444 0.7098 0.5202 0.5632 0.5824 0.5531 0.55 0.57 0.54 0.56 0.37 rs2071006 COSM3763803 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5295 0.5566 0.4100 0.6192 0.7036 0.5040 0.5291 0.5438 0.5410 0.5417 0.5555 0.4630 0.6556 0.7236 0.4931 0.5291 0.5165 het 39.14 13 9 139839904 . T G 39.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.437;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.592;QD=3.01;ReadPosRankSum=0.592;VQSLOD=9.6799;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,3:13:69.14:69,0,313 9 139840543 139840543 A G exonic C8G nonsynonymous SNV C8G:NM_000606:exon4:c.A353G:p.D118G 0.97 0.95 0.97 1. 0.94 0.98 0.9620 0.9574 0.9814 0.9999 0.9439 0.9506 0.9580 0.9836 0.95 0.96 0.95 0.97 0.96 rs7850844 . . . . . . . . . . . . . 0.993 0.198 T 0.0 0.026 B 0.0 0.013 B 0.044 0.237 N 1 0.090 P -2.685 0.000 N 2.75 0.161 T 2.3 0.003 N 0.026 0.008 -0.957 0.397 T 0.000 0.000 T . . . -0.022 0.092 2.380 0.856 0.155 0.000 0.003 N c -1.245 -1.074 1.000 0.747 0.609 0.351 0 4.15 0.478 3.917 0.559 0.089 0.194 0.952 0.329 0.004 0.083 11.232 0.480 Calycin|Calycin-like|Lipocalin/cytosolic fatty-acid binding domain . . 0.9627 0.9549 0.9791 0.9558 0.9998 0.9445 0.9515 0.9573 0.9834 0.9540 0.9601 0.9809 0.9371 1 0.9400 0.9476 0.9550 hom 1210.66 40 9 139840543 . A G 1210.66 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.27;VQSLOD=13.0977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:96.29:1244,96,0 9 139848688 139848688 C T exonic LCN12 synonymous SNV LCN12:NM_178536:exon5:c.C531T:p.I177I 0.75 0.86 0.58 0.86 0.69 0.66 0.7200 0.8483 0.6249 0.8680 0.6817 0.7073 0.7382 0.6857 0.74 0.85 0.69 0.77 0.61 rs4880175 COSM455625 1(bone);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 1.000 0.090 P . . . . . . 0.73 0.021 N . . -1.021 0.235 T 0.000 0.000 T . . . 1.346 0.226 12.51 0.508 0.044 0.006 0.027 N c -1.118 -1.360 1.000 0.407 0.581 0.326 0 -4.2 0.035 -1.543 0.023 -0.512 0.051 0.000 0.063 0.003 0.074 6.450 0.210 . ENSG00000184925.7|ENSG00000148362.6|ENSG00000148362.6|ENSG00000148362.6|ENSG00000184925.7|ENSG00000148362.6|ENSG00000184925.7|ENSG00000054148.13|ENSG00000238268.2|ENSG00000184925.7|ENSG00000169583.12|ENSG00000238268.2|ENSG00000184925.7|ENSG00000176978.9|ENSG00000184925.7|ENSG00000177239.10|ENSG00000238268.2 Adrenal_Gland|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.6784 0.8444 0.5703 0.7203 0.8658 0.6180 0.6760 0.6835 0.6690 0.7233 0.8496 0.5955 0.7517 0.8714 0.6106 0.6703 0.6684 het 170.47 10 9 139848688 . C T 170.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.365;QD=17.05;ReadPosRankSum=1.866;VQSLOD=11.7711;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,6:10:70.90:200,0,71 9 139872048 139872048 A G exonic PTGDS synonymous SNV PTGDS:NM_000954:exon1:c.A18G:p.T6T 0.95 0.9 0.96 1. 0.95 0.98 0.9667 0.8948 0.9837 0.9998 0.9679 0.9652 0.9802 0.9847 0.94 0.9 0.96 0.9 0.88 rs4880179 COSM4163602;COSM4163600;COSM4163601 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9687 0.8960 0.9806 0.9662 0.9998 0.9705 0.9658 0.9681 0.9846 0.9475 0.8957 0.9833 0.9503 1 0.9648 0.9643 0.9735 hom 882.74 31 9 139872048 . A G 882.74 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.48;VQSLOD=14.1021;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:75.21:916,75,0 9 139904037 139904037 A G exonic ABCA2 synonymous SNV ABCA2:NM_001606:exon44:c.T6690C:p.L2230L,ABCA2:NM_212533:exon44:c.T6780C:p.L2260L 0.72 0.72 0.56 0.82 0.68 0.78 0.6910 0.7182 0.5052 0.8083 0.6453 0.6871 0.7180 0.7763 0.71 0.73 0.7 0.72 0.65 rs7048567 COSM3763806 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6843 0.7192 0.5223 0.7107 0.8094 0.6523 0.6881 0.6843 0.7748 0.6948 0.7226 0.5597 0.7450 0.8350 0.6430 0.6828 0.6851 hom 2479.71 89 9 139904037 . A G 2479.71 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.25;MQ0=0;QD=27.86;VQSLOD=8.1844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2513,199,0 9 139905141 139905141 G A exonic ABCA2 synonymous SNV ABCA2:NM_001606:exon40:c.C6105T:p.A2035A,ABCA2:NM_212533:exon40:c.C6195T:p.A2065A 0.066 0.023 0.045 0.044 0.059 0.17 0.0695 0.0239 0.0345 0.0342 0.0367 0.0678 0.0744 0.1585 0.053 0.024 0.067 . 0.09 rs112887513 COSM4163604 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0669 0.0226 0.0341 0.0627 0.0304 0.0378 0.0693 0.0673 0.1585 0.0480 0.0233 0.0465 0.0604 0.0222 0.0375 0.0665 0.0619 het 2653.62 212 9 139905141 . G A 2653.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.762;DP=212;DS;Dels=0.00;FS=1.055;HRun=0;HaplotypeScore=13.1400;MQ=59.04;MQ0=0;MQRankSum=0.789;QD=12.52;ReadPosRankSum=-1.746;VQSLOD=2.2089;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,101:212:99:2684,0,2831 9 139906359 139906359 G A exonic ABCA2 synonymous SNV ABCA2:NM_001606:exon35:c.C5472T:p.H1824H,ABCA2:NM_212533:exon35:c.C5562T:p.H1854H 0.69 0.64 0.54 0.82 0.67 0.74 0.6850 0.6367 0.5078 0.8083 0.6623 0.6922 0.7028 0.7480 0.68 0.64 0.7 0.34 0.55 rs2271862 COSM3763807 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6744 0.6265 0.5157 0.7123 0.8091 0.6565 0.6886 0.6790 0.7445 0.6694 0.6300 0.5478 0.7433 0.8311 0.6474 0.6851 0.6711 hom 1165.69 35 9 139906359 . G A 1165.69 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;QD=33.31;VQSLOD=9.7559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:99:1199,99,0 9 139911983 139911983 T G exonic ABCA2 synonymous SNV ABCA2:NM_001606:exon17:c.A2373C:p.A791A,ABCA2:NM_212533:exon17:c.A2463C:p.A821A 0.1 0.19 0.099 0.034 0.11 0.069 0.0958 0.2101 0.0665 0.0284 0.0804 0.1000 0.0936 0.0741 0.13 0.19 0.098 0.065 0.12 rs12348881 COSM4408627 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0933 0.2084 0.0707 0.1493 0.0275 0.0811 0.0961 0.1081 0.0758 0.1173 0.2085 0.0740 0.1424 0.0297 0.0729 0.0880 0.0867 het 823.50 98 9 139911983 . T G 823.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.440;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9510;MQ=59.76;MQ0=0;MQRankSum=0.310;QD=8.40;ReadPosRankSum=-2.102;VQSLOD=4.8011;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,37:98:99:853,0,1724 9 139912484 139912484 A G exonic ABCA2 synonymous SNV ABCA2:NM_001606:exon15:c.T2037C:p.D679D,ABCA2:NM_212533:exon15:c.T2127C:p.D709D 0.96 0.92 0.98 1. 0.97 0.97 0.9732 0.9401 0.9915 0.9957 0.9692 0.9712 0.9818 0.9769 0.96 0.95 0.97 0.97 0.95 rs908832 COSM4163605 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9749 0.9425 0.9901 0.9739 0.9956 0.9711 0.9719 0.9756 0.9762 0.9618 0.9404 0.9869 0.9603 0.9975 0.9653 0.9678 0.9673 hom 2027.16 73 9 139912484 . A G 2027.16 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.53;MQ0=0;QD=27.77;VQSLOD=7.7966;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2060,171,0 9 139913239 139913239 T G exonic ABCA2 nonsynonymous SNV ABCA2:NM_001606:exon13:c.A1751C:p.H584P,ABCA2:NM_212533:exon13:c.A1841C:p.H614P 1. 1. 1. 1. 1. 1. 0.9999 0.9998 1 1 1 0.9999 1 1 1. 1. 1. 0.77 1. rs908828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3174.09 100 9 139913239 . T G 3174.09 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6706;MQ=58.65;MQ0=0;QD=31.74;VQSLOD=7.6569;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3207,253,0 9 139923265 139923265 A G exonic ABCA2 synonymous SNV ABCA2:NM_212533:exon1:c.T60C:p.A20A 0.77 0.83 0.69 0.77 0.73 0.77 0.7484 0.8409 0.7274 0.7671 0.7072 0.7368 0.7494 0.7620 0.77 0.85 0.74 0.43 . rs4880189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7414 0.8445 0.7293 0.7566 0.7704 0.7007 0.7317 0.7412 0.7611 0.7483 0.8371 0.7146 0.7848 0.7590 0.6907 0.7114 0.7268 het 311.23 16 9 139923265 . A G 311.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DP=16;Dels=0.00;FS=5.497;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.588;QD=19.45;ReadPosRankSum=-0.457;VQSLOD=4.7532;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,11:16:77.45:341,0,77 9 139929152 139929152 G A exonic C9orf139 synonymous SNV C9orf139:NM_207511:exon3:c.G219A:p.R73R 0.0076 . 0.0029 . 0.032 0.0041 0.0131 0.0014 0.0017 0.0001 0.0769 0.0141 0.0253 0.0043 0.0092 0.0016 0.013 . 0.033 rs41309978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0146 0.0011 0.0015 0.0113 5.824e-05 0.0794 0.0130 0.0134 0.0043 0.0189 0.0021 0.0012 0.0099 0 0.0777 0.0183 0.0174 het 1829.14 137 9 139929152 . G A 1829.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.056;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6356;MQ=59.83;MQ0=0;MQRankSum=0.050;QD=13.35;ReadPosRankSum=1.643;VQSLOD=3.8769;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,67:137:99:1859,0,1995 9 139973820 139973820 C T exonic UAP1L1 nonsynonymous SNV UAP1L1:NM_207309:exon5:c.C956T:p.A319V 0.49 0.48 0.45 0.65 0.4 0.45 0.4315 0.4856 0.5042 0.6565 0.3737 0.3838 0.4228 0.4437 0.41 0.47 0.39 0.25 0.46 rs7037849 COSM3763811;COSM3763810 2(thyroid);1(large_intestine) . . . . . . . . . . . 0.068 0.357 T 0.173 0.425 B 0.158 0.406 B 0.372 0.135 N 1 0.090 P 1.59 0.404 L 2.26 0.176 T -1.86 0.435 N 0.054 0.036 -1.004 0.287 T 0.000 0.000 T . . . 1.345 0.225 12.50 0.988 0.458 0.264 0.228 N c -0.626 -0.751 1.000 0.517 0.707 0.730 0 0.091 0.137 1.298 0.328 -0.264 0.087 0.001 0.137 0.001 0.043 11.789 0.511 Nucleotide-diphospho-sugar transferases ENSG00000176978.9|ENSG00000197355.6|ENSG00000268996.1|ENSG00000197355.6|ENSG00000197355.6|ENSG00000176978.9|ENSG00000176978.9|ENSG00000176978.9|ENSG00000229257.2|ENSG00000231864.2|ENSG00000197355.6|ENSG00000186193.7 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.4342 0.4841 0.4927 0.4794 0.6488 0.3738 0.3810 0.4217 0.4494 0.4226 0.4799 0.4737 0.5430 0.6628 0.3768 0.3711 0.3847 het 2951.50 236 9 139973820 . C T 2951.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.593;DP=236;Dels=0.00;FS=1.634;HRun=0;HaplotypeScore=3.2851;MQ=59.43;MQ0=0;MQRankSum=2.864;QD=12.51;ReadPosRankSum=1.833;VQSLOD=4.3727;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,123:236:99:2981,0,2928 9 140002989 140002989 T C exonic MAN1B1 synonymous SNV MAN1B1:NM_016219:exon13:c.T2046C:p.D682D 0.81 0.99 0.75 0.7 0.76 0.78 0.7663 0.9514 0.7776 0.7133 0.6627 0.7515 0.7368 0.7720 0.82 0.94 0.76 0.87 0.85 rs4880091 COSM4138895 1(bone);1(kidney);3(thyroid) Likely benign|Benign not_specified|Intellectual_Disability\x2c_Recessive RCV000117585.2|RCV000318326.1 MedGen|MedGen CN169374|CN239290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7611 0.9542 0.7854 0.7404 0.7080 0.6626 0.7544 0.7517 0.7723 0.7904 0.9495 0.7733 0.8046 0.7255 0.6707 0.7370 0.7342 het 2281.57 240 9 140002989 . T C 2281.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.766;DP=240;DS;Dels=0.00;FS=9.863;HRun=0;HaplotypeScore=4.8353;MQ=59.70;MQ0=0;MQRankSum=-0.133;QD=9.51;ReadPosRankSum=-1.373;VQSLOD=3.9174;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:145,95:240:99:2312,0,3928 9 140006202 140006202 G A exonic DPP7 synonymous SNV DPP7:NM_013379:exon11:c.C1212T:p.L404L 0.51 0.53 0.5 0.68 0.39 0.46 0.4427 0.5275 0.5592 0.6960 0.3835 0.3812 0.4281 0.4474 0.43 0.52 0.38 0.52 0.47 rs13631 COSM3763812 1(bone);1(haematopoietic_and_lymphoid_tissue);1(kidney);1(urinary_tract);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4479 0.5238 0.5508 0.4873 0.6898 0.3833 0.3784 0.4307 0.4518 0.4392 0.5244 0.5275 0.5464 0.7050 0.3868 0.3686 0.3971 het 697.95 82 9 140006202 . G A 697.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.910;DP=82;Dels=0.00;FS=1.877;HRun=1;HaplotypeScore=1.7900;MQ=59.20;MQ0=0;MQRankSum=-1.661;QD=8.51;ReadPosRankSum=1.901;VQSLOD=4.8595;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,30:82:99:728,0,1356 9 140006425 140006425 C G exonic DPP7 synonymous SNV DPP7:NM_013379:exon10:c.G1107C:p.P369P 0.78 0.89 0.74 0.69 0.75 0.78 0.7582 0.8708 0.7697 0.7157 0.6625 0.7512 0.7267 0.7697 0.79 0.87 0.76 0.8 0.8 rs10747048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7546 0.8711 0.7788 0.7436 0.7111 0.6631 0.7533 0.7459 0.7707 0.7683 0.8697 0.7596 0.8133 0.7246 0.6700 0.7390 0.7325 het 638.78 62 9 140006425 . C G 638.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.973;DP=62;Dels=0.00;FS=3.558;HRun=3;HaplotypeScore=0.9992;MQ=59.30;MQ0=0;MQRankSum=-0.691;QD=10.30;ReadPosRankSum=-1.002;VQSLOD=5.8102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,29:62:99:669,0,857 9 140008750 140008750 G C exonic DPP7 nonsynonymous SNV DPP7:NM_013379:exon3:c.C266G:p.A89G 0.82 0.99 0.75 0.73 0.75 0.79 0.7815 0.9519 0.7912 0.7532 0.7165 0.7649 0.7620 0.7905 0.84 0.95 0.79 . 0.65 rs10747049 COSM3763813 5(thyroid);4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.432 N 1.000 0.182 P -3.08 0.000 N 2.88 0.103 T 5.06 0.000 N 0.077 0.068 -0.991 0.323 T 0.000 0.000 T . . . 0.208 0.114 4.767 0.725 0.097 0.054 0.111 N c -1.323 -1.068 1.000 0.747 0.767 0.994 0 3.36 0.374 1.542 0.355 -0.036 0.125 0.601 0.275 0.745 0.320 4.711 0.122 Alpha/Beta hydrolase fold ENSG00000176978.9|ENSG00000177239.10|ENSG00000177239.10|ENSG00000169583.12|ENSG00000176978.9|ENSG00000177239.10|ENSG00000177239.10|ENSG00000177239.10|ENSG00000177239.10|ENSG00000177239.10|ENSG00000176978.9|ENSG00000177239.10|ENSG00000176978.9|ENSG00000177239.10|ENSG00000176978.9|ENSG00000268996.1|ENSG00000177239.10|ENSG00000177239.10|ENSG00000177239.10|ENSG00000176978.9|ENSG00000177239.10|ENSG00000177239.10|ENSG00000177239.10|ENSG00000177239.10|ENSG00000176978.9|ENSG00000177239.10|ENSG00000176978.9|ENSG00000235117.2|ENSG00000177239.10|ENSG00000176978.9|ENSG00000177239.10|ENSG00000176978.9|ENSG00000177239.10|ENSG00000176978.9|ENSG00000177239.10|ENSG00000177239.10|ENSG00000176978.9|ENSG00000177239.10|ENSG00000176978.9|ENSG00000177239.10|ENSG00000176978.9|ENSG00000177239.10|ENSG00000180549.7|ENSG00000176978.9|ENSG00000197355.6|ENSG00000177239.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.6742 0.9428 0.717 0.6142 0.6758 0.6278 0.6296 0.6980 0.6919 0.8087 0.9550 0.7926 0.8030 0.7713 0.6933 0.7543 0.7548 het 297.50 20 9 140008750 . G C 297.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.296;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=0.549;QD=14.88;ReadPosRankSum=0.465;VQSLOD=6.0118;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,13:20:99:327,0,141 9 140051238 140051238 A G exonic GRIN1 synonymous SNV GRIN1:NM_000832:exon5:c.A789G:p.P263P,GRIN1:NM_007327:exon5:c.A789G:p.P263P,GRIN1:NM_021569:exon5:c.A789G:p.P263P,GRIN1:NM_001185090:exon6:c.A852G:p.P284P,GRIN1:NM_001185091:exon6:c.A852G:p.P284P 0.14 0.029 0.2 0.002 0.34 0.19 0.3307 0.0894 0.2807 0.0023 0.5149 0.4046 0.3745 0.2624 0.23 0.065 0.32 0.087 0.21 rs6293 COSM3763815;COSM455639 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other not_specified RCV000117171.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2631 0.0592 0.1996 0.2629 0.0018 0.4143 0.3353 0.2860 0.2259 0.2445 0.0647 0.1695 0.2384 0.0012 0.4060 0.3385 0.3053 het 173.04 16 9 140051238 . A G 173.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.847;DP=16;Dels=0.00;FS=5.193;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.106;QD=10.81;ReadPosRankSum=0.106;VQSLOD=5.9254;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,7:16:99:203,0,260 9 140051376 140051376 G A exonic GRIN1 synonymous SNV GRIN1:NM_000832:exon6:c.G855A:p.V285V,GRIN1:NM_007327:exon6:c.G855A:p.V285V,GRIN1:NM_021569:exon6:c.G855A:p.V285V,GRIN1:NM_001185090:exon7:c.G918A:p.V306V,GRIN1:NM_001185091:exon7:c.G918A:p.V306V 0.14 0.026 0.2 0.002 0.34 0.19 0.2679 0.0609 0.1968 0.0011 0.4351 0.3409 0.3030 0.2258 0.23 0.066 0.32 0.054 0.27 rs1126442 . . other not_specified RCV000117172.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2615 0.0561 0.1972 0.2599 0.0016 0.4138 0.3315 0.2896 0.2229 0.2446 0.0633 0.1671 0.2384 0.0012 0.4075 0.3390 0.3057 het 327.28 40 9 140051376 . G A 327.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.303;DP=40;Dels=0.00;FS=1.371;HRun=0;HaplotypeScore=1.6988;MQ=58.30;MQ0=1;MQRankSum=0.717;QD=8.18;ReadPosRankSum=0.307;VQSLOD=5.3332;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,15:40:99:357,0,765 9 140100317 140100317 C G exonic NDOR1 nonsynonymous SNV NDOR1:NM_001144026:exon1:c.C88G:p.R30G,NDOR1:NM_001144027:exon1:c.C88G:p.R30G,NDOR1:NM_001144028:exon1:c.C88G:p.R30G,NDOR1:NM_014434:exon1:c.C88G:p.R30G 0.14 0.075 0.14 0.19 0.14 0.19 0.1391 0.1121 0.0773 0.1944 0.1222 0.1377 0.1391 0.1770 0.11 0.087 0.12 0.043 0.09 rs113809617 COSM1235562;COSM1235563 3(haematopoietic_and_lymphoid_tissue);1(urinary_tract);2(large_intestine) . . . . . . . . . . . 0.051 0.405 T 0.437 0.340 B 0.382 0.421 B 0.000 0.559 D 0.001 0.470 P 1.64 0.420 L -0.73 0.731 T -5.71 0.874 D 0.169 0.266 -1.031 0.201 T 0.001 0.002 T . . . 5.641 0.769 26.6 0.997 0.807 0.452 0.272 N c 0.070 0.119 1.000 0.747 0.442 0.072 0 3.93 0.445 2.774 0.471 0.785 0.317 1.000 0.715 0.977 0.480 8.691 0.332 Flavodoxin/nitric oxide synthase|Flavoprotein-like domain . . 0.1325 0.1017 0.0807 0.1252 0.1897 0.1143 0.1351 0.1381 0.1726 0.1283 0.1064 0.1122 0.1490 0.1879 0.1040 0.1404 0.1347 het 569.78 35 9 140100317 . C G 569.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.542;DP=35;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.623;QD=16.28;ReadPosRankSum=-0.589;VQSLOD=6.0474;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,21:35:99:600,0,323 9 140108857 140108857 T C exonic NDOR1 synonymous SNV NDOR1:NM_001144027:exon5:c.T612C:p.S204S,NDOR1:NM_001144026:exon6:c.T714C:p.S238S,NDOR1:NM_001144028:exon6:c.T714C:p.S238S,NDOR1:NM_014434:exon6:c.T714C:p.S238S 0.14 0.082 0.13 0.2 0.14 0.17 0.1335 0.1043 0.0889 0.1978 0.1270 0.1307 0.1600 0.1621 0.12 0.1 0.13 0.043 0.066 rs73563696 COSM5021659;COSM5021658 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1320 0.1052 0.0875 0.1716 0.1947 0.1260 0.1271 0.1546 0.1644 0.1284 0.1056 0.1160 0.1887 0.1853 0.1193 0.1358 0.1490 het 2180.18 176 9 140108857 . T C 2180.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.739;DP=176;DS;Dels=0.00;FS=1.281;HRun=1;HaplotypeScore=4.8170;MQ=59.53;MQ0=0;MQRankSum=0.420;QD=12.39;ReadPosRankSum=0.549;VQSLOD=5.4490;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,88:176:99:2210,0,2588 9 140127051 140127051 G A exonic SLC34A3 nonsynonymous SNV SLC34A3:NM_001177316:exon4:c.G200A:p.R67H,SLC34A3:NM_001177317:exon4:c.G200A:p.R67H,SLC34A3:NM_080877:exon4:c.G200A:p.R67H 0.1 0.0045 0.045 0.2 0.11 0.16 0.1025 0.0158 0.0482 0.2163 0.0785 0.0992 0.1169 0.1506 0.065 0.016 0.089 0.022 0.033 rs34372115 COSM3763817 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.581 0.060 T 0.007 0.131 B 0.002 0.063 B 0.455 0.048 N 1 0.090 P 1.87 0.498 L 1.44 0.327 T -1.24 0.314 N 0.052 0.036 -1.029 0.208 T 0.000 0.000 T . . . -0.977 0.033 0.018 0.816 0.133 0.032 0.080 N c -1.733 -1.837 1.000 0.747 0.403 0.052 0 -7.47 0.012 0.029 0.134 -0.008 0.133 0.000 0.063 0.003 0.074 6.853 0.231 . ENSG00000212864.2|ENSG00000198113.2|ENSG00000233198.2 Artery_Tibial|Cells_Transformed_fibroblasts|Lung 0.0988 0.0143 0.0474 0.1256 0.2086 0.0770 0.0955 0.1133 0.1501 0.0770 0.0150 0.0540 0.1457 0.2095 0.0683 0.0993 0.0959 het 1141.21 88 9 140127051 . G A 1141.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.788;DP=88;Dels=0.00;FS=6.021;HRun=0;HaplotypeScore=1.8055;MQ=59.26;MQ0=0;MQRankSum=-0.174;QD=12.97;ReadPosRankSum=-0.242;VQSLOD=4.8621;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,46:88:99:1171,0,1048 9 140130606 140130606 A T exonic SLC34A3 nonsynonymous SNV SLC34A3:NM_001177316:exon13:c.A1538T:p.E513V,SLC34A3:NM_001177317:exon13:c.A1538T:p.E513V,SLC34A3:NM_080877:exon13:c.A1538T:p.E513V 0.95 0.99 0.95 1. 0.84 0.94 0.8831 0.9738 0.9496 0.9994 0.7532 0.8394 0.8771 0.9381 0.89 0.97 0.85 0.92 0.51 rs28542318 COSM455647 1(thyroid) Benign not_specified RCV000174611.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 0.999 0.212 P -3.335 0.000 N 1.78 0.257 T 3.77 0.001 N 0.162 0.303 -0.979 0.352 T 0.000 0.000 T . . . 0.447 0.137 7.014 0.637 0.071 0.419 0.265 N c -1.188 -0.912 1.000 0.747 0.609 0.351 0 4.24 0.493 0.085 0.146 0.139 0.223 0.550 0.271 0.345 0.245 8.589 0.327 . . . 0.8806 0.9757 0.9447 0.9019 0.9997 0.7416 0.8366 0.8794 0.9378 0.8763 0.9719 0.9438 0.8974 0.9988 0.7377 0.8377 0.8425 het 316.77 28 9 140130606 . A T 316.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.116;DP=28;Dels=0.00;FS=9.467;HRun=0;HaplotypeScore=2.9320;MQ=59.33;MQ0=0;MQRankSum=0.534;QD=11.31;ReadPosRankSum=0.116;VQSLOD=4.1250;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:347,0,448 9 140243844 140243844 C T exonic EXD3 nonsynonymous SNV EXD3:NM_017820:exon15:c.G1634A:p.C545Y 0.58 0.26 0.41 0.84 0.61 0.83 0.6459 0.3369 0.4136 0.8360 0.5892 0.6456 0.6608 0.8202 0.53 0.33 0.64 0.52 . rs28545754 COSM1132534 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.094 0.238 B 0.012 0.162 B 0.200 0.166 U 1 0.090 P 0.345 0.112 N 0.05 0.619 T 0.58 0.026 N 0.081 0.156 -0.946 0.417 T 0.000 0.000 T . . . -1.623 0.014 0.002 0.447 0.034 0.065 0.123 N c -1.406 -1.382 0.100 0.164 0.646 0.450 0 1.9 0.247 1.153 0.311 -0.100 0.116 0.006 0.172 0.000 0.016 5.786 0.175 exonuclease domain|3' exonuclease domain|Ribonuclease H-like domain;-5'3&apos|Ribonuclease H-like domain . . 0.6029 0.2883 0.3714 0.6998 0.8295 0.5077 0.6233 0.6070 0.8114 0.5094 0.2844 0.4010 0.6887 0.8364 0.5040 0.6068 0.5400 het 125.53 20 9 140243844 . C T 125.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.487;DP=20;Dels=0.00;FS=1.862;HRun=0;HaplotypeScore=0.0000;MQ=57.79;MQ0=0;MQRankSum=-0.238;QD=6.28;ReadPosRankSum=0.000;VQSLOD=3.2130;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,7:20:99:156,0,385 9 140243968 140243968 C T exonic EXD3 nonsynonymous SNV EXD3:NM_017820:exon15:c.G1510A:p.V504M 0.1 0.051 0.27 0.043 0.15 0.074 0.1660 0.0752 0.4195 0.0563 0.2783 0.1544 0.1508 0.0888 0.11 0.06 0.14 0.065 . rs79140116 COSM4163641;COSM4163640 1(thyroid) . . . . . . . . . . . 0.126 0.272 T 0.001 0.158 B 0.0 0.013 B 0.008 0.012 N 1 0.090 P 0.5 0.134 N -0.3 0.679 T 0.4 0.035 N 0.023 0.006 -1.108 0.033 T 0.000 0.000 T . . . -0.234 0.073 0.930 0.626 0.068 0.001 0.006 N c -1.962 -2.036 0.136 0.172 0.646 0.450 0 -5.44 0.024 -1.124 0.033 -0.453 0.056 0.000 0.063 0.001 0.043 1.161 0.017 exonuclease domain|3' exonuclease domain|Ribonuclease H-like domain;-5'3&apos . . 0.1588 0.0593 0.3724 0.0553 0.0531 0.2324 0.1475 0.1431 0.0713 0.1378 0.0710 0.3405 0.0563 0.0506 0.2281 0.1519 0.1912 het 524.71 23 9 140243968 . C T 524.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.312;DP=23;Dels=0.00;FS=2.205;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.852;QD=22.81;ReadPosRankSum=1.419;VQSLOD=3.2617;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,19:23:32.28:555,0,32 9 140250818 140250818 C T exonic EXD3 nonsynonymous SNV EXD3:NM_017820:exon8:c.G659A:p.R220Q 0.92 0.91 0.88 1. 0.87 0.94 0.8894 0.9032 0.8596 0.9999 0.8532 0.8696 0.8853 0.9309 0.89 0.91 0.88 0.89 . rs7389423 . . . . . . . . . . . . . 1.0 0.010 T 0.005 0.119 B 0.0 0.013 B 0.407 0.130 N 1 0.289 P -0.525 0.025 N 0.69 0.517 T 1.17 0.011 N 0.021 0.030 -0.984 0.341 T 0.000 0.000 T . . . -0.157 0.080 1.342 0.182 0.006 0.001 0.005 N c -1.780 -1.750 0.000 0.069 0.615 0.372 0 -0.144 0.127 -0.589 0.058 -0.491 0.052 0.000 0.063 0.002 0.062 7.092 0.243 . . . 0.8877 0.9012 0.8600 0.8994 0.9996 0.8446 0.8718 0.8796 0.9333 0.8812 0.9014 0.8735 0.8841 0.9988 0.8414 0.8678 0.8602 hom 691.81 22 9 140250818 . C T 691.81 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.18;MQ0=0;QD=31.45;VQSLOD=8.7216;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:57.18:725,57,0 9 140262424 140262424 C T exonic EXD3 synonymous SNV EXD3:NM_001286823:exon6:c.G480A:p.A160A,EXD3:NM_017820:exon6:c.G480A:p.A160A 0.086 0.15 0.075 0.029 0.14 0.018 0.1016 0.1538 0.0446 0.0257 0.2170 0.1206 0.0972 0.0277 0.12 0.14 0.12 0.098 . rs11507683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0981 0.1454 0.0468 0.0414 0.0267 0.2127 0.1217 0.0894 0.0279 0.1357 0.1504 0.0550 0.0430 0.0259 0.2079 0.1273 0.1568 het 512.07 48 9 140262424 . C T 512.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.954;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.457;QD=10.67;ReadPosRankSum=-0.561;VQSLOD=6.5660;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,21:48:99:542,0,684 9 140262426 140262426 C T exonic EXD3 nonsynonymous SNV EXD3:NM_001286823:exon6:c.G478A:p.A160T,EXD3:NM_017820:exon6:c.G478A:p.A160T 0.71 0.54 0.71 0.85 0.66 0.83 0.6977 0.5272 0.7540 0.8536 0.5522 0.6797 0.6885 0.8051 0.65 0.55 0.7 0.54 . rs11533158 COSM1461395;COSM1461396 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.090 B 0.0 0.013 B 0.143 0.182 N 1 0.223 P -2.125 0.001 N 0.78 0.494 T 0.93 0.016 N 0.006 0.003 -1.000 0.301 T 0.000 0.000 T . . . -0.394 0.062 0.400 0.817 0.133 0.001 0.006 N c -1.825 -1.757 0.991 0.323 0.696 0.567 0 -1.53 0.081 -0.112 0.107 -0.004 0.134 0.000 0.063 0.329 0.242 2.520 0.044 . . . 0.6998 0.5221 0.7483 0.7127 0.8515 0.5450 0.6840 0.7014 0.8059 0.6242 0.5187 0.7339 0.7133 0.8582 0.5418 0.6714 0.6265 het 658.04 48 9 140262426 . C T 658.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.725;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.623;QD=13.71;ReadPosRankSum=0.395;VQSLOD=11.9843;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,27:48:99:688,0,530 9 140317999 140317999 C G exonic NOXA1 nonsynonymous SNV NOXA1:NM_001256067:exon1:c.C18G:p.D6E,NOXA1:NM_001256068:exon1:c.C18G:p.D6E,NOXA1:NM_006647:exon1:c.C18G:p.D6E 0.056 0.04 0.049 0.005 0.12 0.065 0.1365 0.0641 0.0469 0.0016 0.3301 0.1730 0.1667 0.1072 0.066 0.034 0.081 . 0.082 rs112864733 COSM1580241 1(central_nervous_system) . . . . . . . . . . . 0.308 0.141 T 0.907 0.481 P 0.59 0.486 P 0.000 0.473 D 1.000 0.090 P 0.64 0.161 N -1.91 0.865 D -0.64 0.187 N 0.059 0.043 -0.648 0.628 T 0.007 0.024 T . . . 1.934 0.293 15.79 0.993 0.581 0.058 0.116 N c -0.808 -0.818 1.000 0.747 0.455 0.088 0 -2.81 0.054 -0.680 0.053 -0.031 0.126 0.000 0.063 0.002 0.062 5.957 0.184 . . . 0.0838 0.0343 0.0298 0.0627 0.0006 0.1963 0.1058 0.0945 0.0694 0.1012 0.0490 0.0496 0.0604 0 0.1961 0.1252 0.1239 hom 317.43 13 9 140317999 . C G 317.43 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=24.42;VQSLOD=6.2221;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:27.08:350,27,0 9 140330976 140330976 T C exonic ENTPD8 synonymous SNV ENTPD8:NM_001033113:exon6:c.A783G:p.V261V,ENTPD8:NM_198585:exon6:c.A783G:p.V261V 0.94 0.9 0.96 0.99 0.93 0.95 0.9407 0.8999 0.9738 0.9862 0.9541 0.9365 0.9256 0.9322 0.92 0.9 0.93 0.92 0.89 rs13297080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9409 0.8958 0.9673 0.9293 0.9863 0.9493 0.9336 0.9375 0.9314 0.9293 0.8957 0.9487 0.9636 0.9821 0.9467 0.9361 0.9459 hom 552.98 16 9 140330976 . T C 552.98 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.56;VQSLOD=14.3297;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:586,45,0 9 140332478 140332478 A G exonic ENTPD8 nonsynonymous SNV ENTPD8:NM_001033113:exon3:c.T185C:p.L62P,ENTPD8:NM_198585:exon3:c.T185C:p.L62P 0.97 1. 0.96 1. 0.94 0.94 0.9490 0.9899 0.9761 0.9998 0.9610 0.9355 0.9463 0.9276 0.95 0.99 0.93 0.96 0.96 rs6606582 . . . . . . . . . . . . . 1.0 0.141 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 0.055 0.375 P -3.055 0.000 N 2.84 0.107 T 7.52 0.000 N 0.065 0.477 -1.014 0.255 T 0.000 0.000 T . . . 0.374 0.130 6.382 0.796 0.124 0.122 0.169 N c -1.253 -0.988 0.999 0.380 0.581 0.326 0 2.47 0.290 1.936 0.396 0.135 0.219 0.989 0.365 0.723 0.315 6.109 0.192 . . . 0.9488 0.9899 0.9722 0.9302 0.9997 0.9575 0.9342 0.9433 0.9277 0.9585 0.9895 0.9642 0.9603 1 0.9556 0.9366 0.9539 hom 2057.17 66 9 140332478 . A G 2057.17 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.37;MQ0=0;QD=31.17;VQSLOD=9.7234;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2090,166,0 9 140357972 140357972 A G exonic PNPLA7 nonsynonymous SNV PNPLA7:NM_152286:exon28:c.T3163C:p.W1055R,PNPLA7:NM_001098537:exon29:c.T3238C:p.W1080R 1. 1. 0.98 1. 1. 1. 0.9972 0.9990 0.9816 1 1 0.9975 1 0.9999 1. 1. 1. 0.76 0.52 rs1891627 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.979 0.252 P -2.875 0.000 N 2.23 0.181 T 7.57 0.000 N 0.088 0.387 -1.000 0.300 T 0.000 0.000 T . . . -0.173 0.078 1.246 0.677 0.082 0.384 0.257 N c -1.389 -1.139 1.000 0.747 0.677 0.550 0 2.16 0.265 0.290 0.186 -0.646 0.041 0.991 0.370 0.532 0.276 7.327 0.256 Acyl transferase/acyl hydrolase/lysophospholipase|Patatin/Phospholipase A2-related . . 0.9962 0.9992 0.9811 1 1 0.9995 0.9979 0.9987 0.9999 0.9986 0.9998 0.9797 1 1 0.9997 0.9986 0.9980 hom 436.10 14 9 140357972 . A G 436.10 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.15;VQSLOD=13.9066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:36.12:469,36,0 9 140358581 140358581 C T exonic PNPLA7 nonsynonymous SNV PNPLA7:NM_152286:exon27:c.G3148A:p.D1050N,PNPLA7:NM_001098537:exon28:c.G3223A:p.D1075N 0.045 0.067 0.027 0.004 0.076 0.036 0.0640 0.0628 0.0275 0.0008 0.0969 0.0814 0.0757 0.0430 0.069 0.064 0.072 0.011 0.11 rs4962237 COSM3763823;COSM3763824 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.254 0.169 T 1.0 0.899 D 0.99 0.774 D 0.000 0.843 D 1 0.810 D 1.19 0.302 L -0.84 0.743 T -2.0 0.461 N 0.116 0.301 -0.773 0.567 T 0.062 0.258 T . . . 5.033 0.678 25.2 0.995 0.706 0.973 0.739 D c 0.112 0.068 1.000 0.747 0.554 0.283 0 3.86 0.435 7.547 0.809 0.850 0.350 1.000 0.715 0.443 0.261 15.136 0.721 Acyl transferase/acyl hydrolase/lysophospholipase|Patatin/Phospholipase A2-related . . 0.0611 0.0624 0.0321 0.0588 0.0004 0.0865 0.0791 0.0690 0.0422 0.0762 0.0670 0.0431 0.0464 0 0.0862 0.0891 0.0893 het 520.69 37 9 140358581 . C T 520.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.356;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8255;MQ=57.70;MQ0=0;MQRankSum=1.067;QD=14.07;ReadPosRankSum=-1.222;VQSLOD=4.6328;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:15,22:37:99:551,0,328 9 140374861 140374861 A G exonic PNPLA7 nonsynonymous SNV PNPLA7:NM_152286:exon22:c.T2408C:p.V803A,PNPLA7:NM_001098537:exon23:c.T2483C:p.V828A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs1891630 COSM4406890;COSM4406891 1(liver);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2526.45 72 9 140374861 . A G 2526.45 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=35.09;VQSLOD=9.5381;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2559,202,0 9 140865989 140865989 A T exonic CACNA1B synonymous SNV CACNA1B:NM_000718:exon11:c.A1488T:p.T496T,CACNA1B:NM_001243812:exon11:c.A1488T:p.T496T 0.066 0.0068 0.048 0.045 0.15 0.095 0.1209 0.0270 0.0494 0.0285 0.2072 0.1544 0.1058 0.1036 0.1 0.029 0.14 0.054 . rs2229951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1159 0.0235 0.0553 0.0667 0.0303 0.2064 0.1516 0.1125 0.0974 0.1183 0.0252 0.0561 0.0894 0.0290 0.2096 0.1624 0.1601 het 691.78 49 9 140865989 . A T 691.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6475;MQ=59.53;MQ0=0;MQRankSum=1.075;QD=14.12;ReadPosRankSum=0.111;VQSLOD=6.1956;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,27:49:99:722,0,574 9 141008876 141008876 C T exonic CACNA1B synonymous SNV CACNA1B:NM_000718:exon40:c.C5583T:p.F1861F,CACNA1B:NM_001243812:exon40:c.C5583T:p.F1861F 0.5 0.23 0.74 0.27 0.78 0.67 0.7159 0.3805 0.7527 0.3746 0.8035 0.7775 0.7492 0.6999 0.63 0.36 0.76 0.42 . rs2229948 COSM4415564;COSM4415565 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6817 0.3016 0.7205 0.7881 0.2711 0.7943 0.7512 0.7117 0.6796 0.6123 0.3097 0.7010 0.8146 0.2638 0.8022 0.7663 0.7043 hom 615.34 20 9 141008876 . C T 615.34 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=30.77;VQSLOD=9.1866;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:51.16:648,51,0 9 141016262 141016262 T G exonic CACNA1B nonsynonymous SNV CACNA1B:NM_001243812:exon46:c.T6644G:p.L2215R 0.91 0.97 0.92 0.81 0.91 0.93 0.9030 0.9625 0.8754 0.7974 0.9142 0.9047 0.9167 0.9297 0.93 0.96 0.91 0.9 . rs2278973 COSM3763836;COSM5831032;COSM5831031 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 1 0.349 P . . . -4.06 0.965 D 0.94 0.015 N . . -1.024 0.222 T 0.000 0.000 T . . . -0.296 0.069 0.678 0.940 0.236 0.011 0.040 N c -1.118 -1.233 0.403 0.201 0.646 0.450 0 -7.22 0.013 -0.902 0.042 -0.361 0.068 0.121 0.230 0.985 0.512 6.258 0.200 . ENSG00000159247.8|ENSG00000159247.8|ENSG00000159247.8|ENSG00000233013.4|ENSG00000159247.8 Lung|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.9004 0.9626 0.8798 0.9453 0.7948 0.9106 0.9008 0.9054 0.9269 0.9135 0.9606 0.8723 0.9536 0.7892 0.9174 0.9005 0.9057 hom 2642.45 88 9 141016262 . T G 2642.45 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=59.26;MQ0=0;QD=30.03;VQSLOD=8.6036;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2675,229,0 10 294953 294953 A G exonic ZMYND11 synonymous SNV ZMYND11:NM_001202465:exon12:c.A1356G:p.E452E,ZMYND11:NM_001202467:exon12:c.A1449G:p.E483E,ZMYND11:NM_001202464:exon13:c.A1449G:p.E483E,ZMYND11:NM_001202466:exon13:c.A1446G:p.E482E,ZMYND11:NM_001202468:exon13:c.A1611G:p.E537E,ZMYND11:NM_006624:exon14:c.A1611G:p.E537E,ZMYND11:NM_212479:exon14:c.A1608G:p.E536E,ZMYND11:NM_001330057:exon15:c.A1560G:p.E520E 0.94 0.88 0.92 0.95 0.98 0.97 0.9615 0.8838 0.9302 0.9414 0.9837 0.9770 0.9504 0.9718 0.95 0.9 0.98 0.96 0.97 rs1017361 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9623 0.8830 0.9329 0.9717 0.9394 0.9829 0.9784 0.9595 0.9706 0.9498 0.8905 0.9390 0.9702 0.9388 0.9845 0.9771 0.9582 hom 2927.73 89 10 294953 . A G 2927.73 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.58;MQ0=0;QD=32.90;VQSLOD=9.9705;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2961,229,0 10 323283 323283 A G exonic DIP2C synonymous SNV DIP2C:NM_014974:exon37:c.T4653C:p.Y1551Y 0.28 0.31 0.26 0.24 0.26 0.34 0.2704 0.2966 0.1752 0.2448 0.2743 0.2637 0.2832 0.3590 0.26 0.29 0.25 0.22 0.27 rs3740304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2647 0.2970 0.1790 0.2307 0.2470 0.2717 0.2655 0.2643 0.3551 0.2762 0.2950 0.1921 0.1755 0.2580 0.2708 0.2746 0.2853 het 2547.67 169 10 323283 . A G 2547.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.550;DP=169;Dels=0.00;FS=3.654;HRun=0;HaplotypeScore=3.6732;MQ=59.73;MQ0=0;MQRankSum=-0.858;QD=15.07;ReadPosRankSum=-0.506;VQSLOD=5.4498;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,96:169:99:2578,0,1874 10 373048 373048 T C exonic DIP2C synonymous SNV DIP2C:NM_014974:exon31:c.A3822G:p.A1274A 0.15 0.19 0.065 0.21 0.057 0.2 0.0864 0.1728 0.0355 0.1993 0.0556 0.0534 0.0772 0.1554 0.087 0.16 0.051 0.087 0.082 rs2288681 COSM4416534 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0816 0.1717 0.0379 0.0562 0.1978 0.0587 0.0530 0.0733 0.1494 0.0942 0.1688 0.0537 0.0464 0.2170 0.0564 0.0504 0.0808 het 1089.12 85 10 373048 . T C 1089.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.180;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9783;MQ=59.24;MQ0=0;MQRankSum=0.105;QD=12.81;ReadPosRankSum=0.342;VQSLOD=5.7898;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,40:85:99:1119,0,1198 10 445061 445061 C T exonic DIP2C synonymous SNV DIP2C:NM_014974:exon10:c.G1248A:p.P416P 0.98 0.94 0.99 0.99 1. 1. 0.9901 0.9331 0.9933 0.9822 1 0.9963 0.9779 0.9998 0.98 0.93 1. 0.96 1. rs6560837 COSM3751791;COSM3751792 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9911 0.9327 0.9938 0.9749 0.9813 1.0000 0.9973 0.9885 0.9996 0.9778 0.9301 0.9976 0.9603 0.9833 1 0.9979 0.9949 hom 2061.21 68 10 445061 . C T 2061.21 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.681;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7041;MQ=58.67;MQ0=0;MQRankSum=-1.370;QD=30.31;ReadPosRankSum=-0.440;VQSLOD=8.6946;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,66:68:99:2094,178,0 10 459940 459940 G A exonic DIP2C synonymous SNV DIP2C:NM_014974:exon8:c.C970T:p.L324L 0.63 0.58 0.63 0.69 0.54 0.71 0.5928 0.5639 0.6559 0.6900 0.5890 0.5527 0.6084 0.6785 0.55 0.56 0.54 0.58 0.48 rs4881274 COSM3747176;COSM3747177 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5935 0.5669 0.6476 0.5916 0.6913 0.5889 0.5461 0.5608 0.6747 0.5657 0.5629 0.6211 0.6391 0.6953 0.5842 0.5430 0.5881 het 896.36 66 10 459940 . G A 896.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.994;DP=66;Dels=0.00;FS=3.501;HRun=1;HaplotypeScore=2.9960;MQ=59.72;MQ0=0;MQRankSum=0.757;QD=13.58;ReadPosRankSum=0.033;VQSLOD=5.9036;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,35:66:99:926,0,838 10 1046712 1046712 G A exonic GTPBP4 synonymous SNV GTPBP4:NM_012341:exon7:c.G750A:p.A250A 0.53 0.41 0.54 0.61 0.52 0.61 0.5375 0.4265 0.5517 0.5838 0.5603 0.5274 0.5547 0.6083 0.5 0.43 0.53 0.37 0.45 rs2306409 COSM3751502 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5347 0.4216 0.5449 0.4442 0.5793 0.5556 0.5280 0.5274 0.5945 0.5175 0.4334 0.5240 0.5199 0.5820 0.5675 0.5468 0.5257 het 2732.24 194 10 1046712 . G A 2732.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.475;DP=194;Dels=0.00;FS=5.920;HRun=0;HaplotypeScore=5.6465;MQ=58.79;MQ0=0;MQRankSum=-1.145;QD=14.08;ReadPosRankSum=-2.089;VQSLOD=3.7526;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:93,100:194:99:2762,0,2359 10 1230968 1230968 C T exonic ADARB2 nonsynonymous SNV ADARB2:NM_018702:exon9:c.G1876A:p.A626T 0.54 0.25 0.51 0.67 0.68 0.69 0.6403 0.3161 0.5652 0.6783 0.6453 0.6841 0.6697 0.6880 0.56 0.32 0.68 0.45 0.71 rs2271275 COSM1560925;COSM3747141 1(breast);1(liver) . . . . . . . . . . . 0.218 0.264 T 0.158 0.381 B 0.098 0.419 B 0.000 0.513 D 0.000 0.588 P 2.23 0.633 M -3.3 0.938 D -2.14 0.510 N 0.317 0.443 -0.926 0.447 T 0.000 0.000 T . . . 2.754 0.392 21.1 0.994 0.621 0.747 0.363 D c -0.277 -0.293 1.000 0.517 0.516 0.203 0 4.81 0.613 0.833 0.270 0.044 0.157 0.020 0.195 0.002 0.062 17.899 0.888 Adenosine deaminase/editase;Double-stranded RNA-binding domain . . 0.6398 0.2969 0.5648 0.7206 0.6750 0.6380 0.6839 0.6545 0.6857 0.5649 0.3125 0.5489 0.7384 0.6510 0.6445 0.6773 0.6263 het 584.57 31 10 1230968 . C T 584.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.539;DP=31;Dels=0.00;FS=1.937;HRun=0;HaplotypeScore=2.1992;MQ=58.79;MQ0=0;MQRankSum=-0.362;QD=18.86;ReadPosRankSum=-1.765;VQSLOD=4.8411;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,21:31:99:615,0,203 10 1405261 1405261 G A exonic ADARB2 nonsynonymous SNV ADARB2:NM_018702:exon3:c.C1039T:p.H347Y . . . . . . 0.0001 0 0 0.0011 0 0 0 0 . . . . . rs770045643 COSM4766510 1(stomach) . . . . . . . . . . . 1.0 0.010 T 0.148 0.263 B 0.171 0.337 B 0.000 0.537 D 1.000 0.588 D 2.135 0.597 M 1.95 0.225 T -1.5 0.366 N 0.328 0.389 -1.089 0.056 T 0.072 0.294 T 0.049 0.639 D 2.710 0.387 20.9 0.795 0.123 0.967 0.700 D c 0.058 0.146 1.000 0.747 0.554 0.283 0 5.24 0.728 7.556 0.810 0.941 0.531 1.000 0.715 0.065 0.173 18.851 0.922 . . . 4.983e-05 0 0 0 0.0007 0 1.632e-05 0 0 6.482e-05 0.0002 0 0 0 0 0 0 het 473.41 24 10 1405261 . G A 473.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.633;DP=24;Dels=0.00;FS=4.548;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=0.833;QD=19.73;ReadPosRankSum=-1.900;VQSLOD=2.5738;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,18:24:99:503,0,173 10 3143643 3143643 A C exonic PFKP synonymous SNV PFKP:NM_001323067:exon4:c.A270C:p.R90R,PFKP:NM_001323068:exon4:c.A351C:p.R117R,PFKP:NM_001345944:exon4:c.A237C:p.R79R,PFKP:NM_002627:exon4:c.A351C:p.R117R,PFKP:NM_001323071:exon5:c.A237C:p.R79R,PFKP:NM_001323072:exon5:c.A237C:p.R79R,PFKP:NM_001242339:exon6:c.A327C:p.R109R 1. 1. 1. 1. 1. 1. 0.9997 0.9983 0.9997 0.9998 1 0.9997 1 1 1. 1. 1. 0.86 0.64 rs4881080 COSM4144638;COSM4144639 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9982 0.9998 0.9985 0.9997 1 0.9998 0.9994 1 0.9996 0.9990 1 0.9967 0.9994 1 0.9999 1 hom 548.23 18 10 3143643 . A C 548.23 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.46;VQSLOD=13.1087;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:48.14:581,48,0 10 3150898 3150898 C T exonic PFKP synonymous SNV PFKP:NM_001323070:exon4:c.C228T:p.V76V,PFKP:NM_001323074:exon4:c.C228T:p.V76V,PFKP:NM_001323073:exon5:c.C228T:p.V76V,PFKP:NM_001323067:exon9:c.C795T:p.V265V,PFKP:NM_001323068:exon9:c.C876T:p.V292V,PFKP:NM_001323069:exon9:c.C369T:p.V123V,PFKP:NM_001345944:exon9:c.C762T:p.V254V,PFKP:NM_002627:exon9:c.C876T:p.V292V,PFKP:NM_001323071:exon10:c.C762T:p.V254V,PFKP:NM_001323072:exon10:c.C762T:p.V254V,PFKP:NM_001242339:exon11:c.C852T:p.V284V 0.14 0.15 0.21 0.054 0.2 0.089 0.1771 0.1597 0.2222 0.0714 0.1896 0.2045 0.1704 0.0967 0.19 0.16 0.2 0.12 0.18 rs11251721 COSM3751717;COSM3751718 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1794 0.1604 0.2257 0.2432 0.0659 0.1904 0.1998 0.1927 0.0969 0.1752 0.1545 0.2033 0.2682 0.0635 0.1936 0.1903 0.1969 het 1877.62 165 10 3150898 . C T 1877.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.028;DP=165;Dels=0.00;FS=1.536;HRun=1;HaplotypeScore=0.8321;MQ=59.72;MQ0=0;MQRankSum=0.470;QD=11.38;ReadPosRankSum=0.903;VQSLOD=6.7249;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,69:165:99:1908,0,2426 10 3155353 3155353 C T exonic PFKP synonymous SNV PFKP:NM_001323070:exon7:c.C549T:p.I183I,PFKP:NM_001323074:exon7:c.C549T:p.I183I,PFKP:NM_001323073:exon8:c.C549T:p.I183I,PFKP:NM_001323067:exon12:c.C1116T:p.I372I,PFKP:NM_001323068:exon12:c.C1197T:p.I399I,PFKP:NM_001323069:exon12:c.C690T:p.I230I,PFKP:NM_001345944:exon12:c.C1083T:p.I361I,PFKP:NM_002627:exon12:c.C1197T:p.I399I,PFKP:NM_001323071:exon13:c.C1083T:p.I361I,PFKP:NM_001323072:exon13:c.C1083T:p.I361I,PFKP:NM_001242339:exon14:c.C1173T:p.I391I 0.12 0.15 0.19 0.054 0.16 0.069 0.1613 0.1687 0.2201 0.0788 0.1795 0.1789 0.1480 0.0785 0.16 0.15 0.17 0.12 0.11 rs3816699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1498 0.1553 0.2065 0.2236 0.0665 0.1549 0.1587 0.1638 0.0697 0.1506 0.1495 0.1902 0.2483 0.0630 0.1609 0.1530 0.1667 het 589.94 46 10 3155353 . C T 589.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.758;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9152;MQ=56.70;MQ0=0;MQRankSum=-1.098;QD=12.82;ReadPosRankSum=0.000;VQSLOD=3.8509;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,23:46:99:620,0,573 10 3155620 3155620 A G exonic PFKP synonymous SNV PFKP:NM_001323070:exon8:c.A633G:p.A211A,PFKP:NM_001323074:exon8:c.A633G:p.A211A,PFKP:NM_001323073:exon9:c.A633G:p.A211A,PFKP:NM_001323067:exon13:c.A1200G:p.A400A,PFKP:NM_001323068:exon13:c.A1281G:p.A427A,PFKP:NM_001323069:exon13:c.A774G:p.A258A,PFKP:NM_001345944:exon13:c.A1167G:p.A389A,PFKP:NM_002627:exon13:c.A1281G:p.A427A,PFKP:NM_001323071:exon14:c.A1167G:p.A389A,PFKP:NM_001323072:exon14:c.A1167G:p.A389A,PFKP:NM_001242339:exon15:c.A1257G:p.A419A 0.61 0.41 0.57 0.84 0.65 0.61 0.6194 0.4365 0.5296 0.8210 0.6520 0.6344 0.6096 0.6188 0.57 0.45 0.63 0.62 0.61 rs1052309 COSM3751722;COSM3751721 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6170 0.4389 0.5297 0.5867 0.8267 0.6526 0.6370 0.5969 0.5982 0.5987 0.4418 0.5549 0.5861 0.8434 0.6564 0.6492 0.6517 het 571.07 62 10 3155620 . A G 571.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.710;DP=62;Dels=0.00;FS=2.235;HRun=1;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;MQRankSum=1.308;QD=9.21;ReadPosRankSum=-1.048;VQSLOD=5.1593;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,24:62:99:601,0,1076 10 3155698 3155698 C T exonic PFKP synonymous SNV PFKP:NM_001323070:exon8:c.C711T:p.F237F,PFKP:NM_001323074:exon8:c.C711T:p.F237F,PFKP:NM_001323073:exon9:c.C711T:p.F237F,PFKP:NM_001323067:exon13:c.C1278T:p.F426F,PFKP:NM_001323068:exon13:c.C1359T:p.F453F,PFKP:NM_001323069:exon13:c.C852T:p.F284F,PFKP:NM_001345944:exon13:c.C1245T:p.F415F,PFKP:NM_002627:exon13:c.C1359T:p.F453F,PFKP:NM_001323071:exon14:c.C1245T:p.F415F,PFKP:NM_001323072:exon14:c.C1245T:p.F415F,PFKP:NM_001242339:exon15:c.C1335T:p.F445F 0.27 0.32 0.31 0.13 0.25 0.32 0.2758 0.2963 0.3719 0.1672 0.2445 0.2627 0.2930 0.3162 0.27 0.28 0.26 0.28 0.25 rs4881086 COSM427477;COSM427478 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2748 0.2941 0.3636 0.3412 0.1585 0.2351 0.2534 0.2805 0.3166 0.2540 0.2838 0.3373 0.3510 0.1475 0.2411 0.2443 0.2587 het 645.74 44 10 3155698 . C T 645.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.972;DP=44;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;MQRankSum=0.513;QD=14.68;ReadPosRankSum=-0.155;VQSLOD=6.8535;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,26:44:99:676,0,439 10 3180227 3180227 T C exonic PITRM1 nonsynonymous SNV PITRM1:NM_001242309:exon24:c.A2816G:p.Q939R,PITRM1:NM_001347725:exon25:c.A2912G:p.Q971R,PITRM1:NM_001347726:exon25:c.A2297G:p.Q766R,PITRM1:NM_001347730:exon25:c.A2888G:p.Q963R,PITRM1:NM_001242307:exon27:c.A3113G:p.Q1038R,PITRM1:NM_001347727:exon27:c.A2495G:p.Q832R,PITRM1:NM_001347728:exon27:c.A1805G:p.Q602R,PITRM1:NM_001347729:exon27:c.A3086G:p.Q1029R,PITRM1:NM_014889:exon27:c.A3110G:p.Q1037R 0.7 0.69 0.65 0.74 0.72 0.72 0.7201 0.7255 0.7382 0.7596 0.7154 0.7101 0.6708 0.7289 0.71 0.72 0.71 0.73 . rs6901 COSM4144641;COSM4144640;COSM4144642 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1 0.090 P -2.86 0.000 N 3.88 0.070 T 0.64 0.025 N 0.037 0.121 -0.977 0.358 T 0.000 0.000 T . . . -1.658 0.013 0.002 0.395 0.027 0.087 0.144 N c -1.069 -1.035 1.000 0.489 0.672 0.522 0 0.73 0.173 0.939 0.284 -0.805 0.032 0.922 0.318 0.000 0.016 9.666 0.390 Metalloenzyme\x2c LuxS/M16 peptidase-like|Peptidase M16\x2c C-terminal ENSG00000237399.3|ENSG00000107959.11|ENSG00000107959.11|ENSG00000107959.11|ENSG00000237399.3|ENSG00000107959.11|ENSG00000237399.3|ENSG00000237399.3|ENSG00000107959.11|ENSG00000237399.3|ENSG00000237399.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.7020 0.7062 0.7126 0.6139 0.7378 0.6890 0.7000 0.6863 0.7162 0.7050 0.7097 0.7231 0.6192 0.7463 0.6884 0.7023 0.7077 hom 494.44 17 10 3180227 . T C 494.44 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=29.08;VQSLOD=9.1333;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.12:527,42,0 10 3189380 3189380 C T exonic PITRM1 synonymous SNV PITRM1:NM_001242309:exon17:c.G2004A:p.P668P,PITRM1:NM_001347725:exon18:c.G2100A:p.P700P,PITRM1:NM_001347726:exon18:c.G1485A:p.P495P,PITRM1:NM_001347730:exon18:c.G2076A:p.P692P,PITRM1:NM_001242307:exon20:c.G2301A:p.P767P,PITRM1:NM_001347727:exon20:c.G1683A:p.P561P,PITRM1:NM_001347728:exon20:c.G993A:p.P331P,PITRM1:NM_001347729:exon20:c.G2274A:p.P758P,PITRM1:NM_014889:exon20:c.G2298A:p.P766P 0.55 0.45 0.54 0.69 0.52 0.55 0.5231 0.4739 0.6329 0.6891 0.4741 0.4919 0.4967 0.5356 0.48 0.47 0.49 0.59 . rs3740607 COSM3997953;COSM3997954;COSM3997955 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5289 0.4747 0.6279 0.4859 0.6867 0.4752 0.4949 0.5133 0.5386 0.5003 0.4769 0.6268 0.4733 0.7057 0.4693 0.4925 0.5 hom 3912.31 133 10 3189380 . C T 3912.31 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7744;MQ=59.22;MQ0=0;QD=29.42;VQSLOD=7.7567;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3912,310,0 10 3200292 3200292 G A exonic PITRM1 nonsynonymous SNV PITRM1:NM_001242309:exon10:c.C1094T:p.A365V,PITRM1:NM_001242307:exon11:c.C1190T:p.A397V,PITRM1:NM_001347725:exon11:c.C1190T:p.A397V,PITRM1:NM_001347726:exon11:c.C575T:p.A192V,PITRM1:NM_001347727:exon11:c.C575T:p.A192V,PITRM1:NM_001347729:exon11:c.C1166T:p.A389V,PITRM1:NM_001347730:exon11:c.C1166T:p.A389V,PITRM1:NM_014889:exon11:c.C1190T:p.A397V 0.63 0.57 0.57 0.6 0.71 0.68 0.6584 0.6059 0.5404 0.5921 0.7007 0.6849 0.6503 0.6828 0.68 0.63 0.71 0.61 . rs3182535 . . . . . . . . . . . . . 0.2 0.203 T 0.008 0.288 B 0.006 0.331 B 0.000 0.491 D 1.000 0.206 P 2.8 0.819 M 3.11 0.082 T -1.9 0.468 N 0.09 0.294 -1.132 0.017 T 0.000 0.000 T . . . 1.686 0.264 14.33 0.989 0.485 0.924 0.552 D c -0.332 -0.284 0.999 0.378 0.706 0.609 0 4.66 0.577 5.608 0.671 1.044 0.665 1.000 0.715 0.001 0.043 13.393 0.601 Metalloenzyme\x2c LuxS/M16 peptidase-like|Peptidase M16 domain|Peptidase M16\x2c C-terminal ENSG00000237399.3|ENSG00000107959.11|ENSG00000107959.11|ENSG00000107959.11|ENSG00000237399.3|ENSG00000107959.11|ENSG00000237399.3|ENSG00000237399.3|ENSG00000107959.11|ENSG00000107959.11|ENSG00000237399.3|ENSG00000237399.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.6568 0.6109 0.5530 0.5887 0.5831 0.6957 0.6962 0.6555 0.6849 0.6641 0.6113 0.5658 0.6093 0.5861 0.6904 0.7019 0.6908 hom 2692.73 99 10 3200292 . G A 2692.73 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5038;MQ=59.20;MQ0=0;QD=27.20;VQSLOD=6.8995;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,96:99:99:2726,214,0 10 3202065 3202065 T C exonic PITRM1 nonsynonymous SNV PITRM1:NM_001242309:exon8:c.A886G:p.I296V,PITRM1:NM_001242307:exon9:c.A982G:p.I328V,PITRM1:NM_001347725:exon9:c.A982G:p.I328V,PITRM1:NM_001347726:exon9:c.A367G:p.I123V,PITRM1:NM_001347727:exon9:c.A367G:p.I123V,PITRM1:NM_001347729:exon9:c.A958G:p.I320V,PITRM1:NM_001347730:exon9:c.A958G:p.I320V,PITRM1:NM_014889:exon9:c.A982G:p.I328V 0.62 0.59 0.56 0.6 0.67 0.67 0.6684 0.6423 0.5742 0.6206 0.7065 0.6850 0.6430 0.6867 0.69 0.68 0.69 0.6 . rs4242746 COSM4144653;COSM4144651;COSM4144652 1(thyroid);5(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.063 B 0.004 0.346 N 1 0.090 P -0.57 0.023 N 3.3 0.064 T -0.11 0.096 N 0.014 0.012 -0.980 0.351 T 0.000 0.000 T . . . -1.900 0.009 0.002 0.521 0.046 0.012 0.042 N c -1.168 -1.167 0.056 0.151 0.706 0.609 0 0.303 0.150 0.299 0.188 0.066 0.173 0.050 0.212 0.002 0.062 8.537 0.323 Metalloenzyme\x2c LuxS/M16 peptidase-like|Peptidase M16 domain|Peptidase M16\x2c C-terminal;Peptidase M16\x2c C-terminal ENSG00000107959.11|ENSG00000107959.11|ENSG00000107959.11|ENSG00000237399.3|ENSG00000107959.11|ENSG00000237399.3|ENSG00000237399.3|ENSG00000107959.11|ENSG00000107959.11|ENSG00000107959.11|ENSG00000237399.3|ENSG00000237399.3 Artery_Aorta|Artery_Tibial|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.6382 0.6260 0.5336 0.5634 0.5804 0.6795 0.6714 0.6306 0.6693 0.6564 0.6271 0.5299 0.5728 0.5813 0.6836 0.6839 0.6564 hom 538.94 21 10 3202065 . T C 538.94 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=25.66;VQSLOD=8.1837;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:42.13:572,42,0 10 3206027 3206027 A G exonic PITRM1 synonymous SNV PITRM1:NM_001242309:exon6:c.T585C:p.P195P,PITRM1:NM_001242307:exon7:c.T681C:p.P227P,PITRM1:NM_001347725:exon7:c.T681C:p.P227P,PITRM1:NM_001347726:exon7:c.T66C:p.P22P,PITRM1:NM_001347727:exon7:c.T66C:p.P22P,PITRM1:NM_001347729:exon7:c.T657C:p.P219P,PITRM1:NM_001347730:exon7:c.T657C:p.P219P,PITRM1:NM_014889:exon7:c.T681C:p.P227P 0.62 0.54 0.58 0.6 0.7 0.72 0.6634 0.5720 0.5378 0.5946 0.6929 0.6942 0.6529 0.7060 0.68 0.6 0.72 0.56 . rs4609511 COSM5766534;COSM5766533;COSM5766535 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6613 0.5749 0.5477 0.5805 0.5839 0.6889 0.7070 0.6620 0.7093 0.6598 0.5727 0.5396 0.59 0.5850 0.6915 0.7182 0.6752 hom 4364.28 127 10 3206027 . A G 4364.28 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.16;MQ0=0;QD=34.36;VQSLOD=9.6927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4364,343,0 10 3208557 3208557 A G exonic PITRM1 synonymous SNV PITRM1:NM_001242309:exon3:c.T186C:p.T62T,PITRM1:NM_001242307:exon4:c.T282C:p.T94T,PITRM1:NM_001347725:exon4:c.T282C:p.T94T,PITRM1:NM_001347729:exon4:c.T258C:p.T86T,PITRM1:NM_001347730:exon4:c.T258C:p.T86T,PITRM1:NM_014889:exon4:c.T282C:p.T94T 0.64 0.59 0.58 0.6 0.7 0.72 0.6713 0.6263 0.5371 0.5919 0.6969 0.6996 0.6496 0.7100 0.7 0.65 0.72 0.58 . rs12359035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6671 0.6246 0.5433 0.6058 0.5816 0.6926 0.7101 0.6657 0.7109 0.6773 0.6253 0.5442 0.6093 0.5852 0.6954 0.7218 0.6796 hom 4737.77 139 10 3208557 . A G 4737.77 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5253;MQ=42.36;MQ0=0;QD=34.08;VQSLOD=3.5447;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4737,412,0 10 5138607 5138607 G A exonic AKR1C3 synonymous SNV AKR1C3:NM_001253908:exon2:c.G90A:p.P30P,AKR1C3:NM_001253909:exon2:c.G90A:p.P30P,AKR1C3:NM_003739:exon2:c.G90A:p.P30P 0.22 0.34 0.2 . 0.36 0.14 0.2838 0.3333 0.1583 0.0021 0.4012 0.3464 0.3146 0.1840 0.35 0.34 0.35 0.26 0.38 rs7741 COSM3751849 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2801 0.3315 0.1644 0.2387 0.0020 0.4129 0.3553 0.2850 0.1806 0.3335 0.3301 0.1942 0.2583 0.0019 0.3912 0.3672 0.3323 het 758.87 61 10 5138607 . G A 758.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.277;DP=61;Dels=0.00;FS=2.326;HRun=1;HaplotypeScore=3.9114;MQ=57.03;MQ0=0;MQRankSum=0.454;QD=12.44;ReadPosRankSum=0.137;VQSLOD=4.5062;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,31:61:99:789,0,737 10 5139685 5139685 G A exonic AKR1C3 synonymous SNV AKR1C3:NM_001253908:exon3:c.G312A:p.K104K,AKR1C3:NM_001253909:exon3:c.G312A:p.K104K,AKR1C3:NM_003739:exon3:c.G312A:p.K104K 0.85 0.87 0.81 0.86 0.85 0.82 0.8362 0.8734 0.8059 0.8697 0.8284 0.8288 0.8634 0.8483 0.84 0.87 0.83 0.88 0.84 rs12387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8359 0.8741 0.8011 0.8887 0.8650 0.8350 0.8272 0.8390 0.8529 0.8468 0.8718 0.8014 0.9106 0.8686 0.8254 0.8358 0.8513 hom 3312.29 110 10 5139685 . G A 3312.29 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;QD=30.11;VQSLOD=8.7293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3312,253,0 10 5255025 5255025 A G exonic AKR1C4 nonsynonymous SNV AKR1C4:NM_001818:exon7:c.A749G:p.Q250R 1. 1. 1. 1. 1. 1. 0.9999 0.9995 1 1 1 0.9999 1 0.9999 . . . 1. 1. rs4880718 COSM4590504 4(skin);23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.362 0.136 N 1 0.090 P -1.525 0.005 N 1.93 0.229 T 2.44 0.003 N 0.012 0.056 -1.024 0.223 T 0.000 0.000 T . . . -1.635 0.014 0.002 0.134 0.003 0.005 0.023 N c -2.098 -2.027 0.001 0.078 0.554 0.246 0 -1.26 0.088 0.521 0.224 -1.266 0.014 0.000 0.063 0.000 0.016 5.004 0.135 NADP-dependent oxidoreductase domain . . 0.9999 0.9997 1 0.9995 0.9999 1 0.9999 1 1.0000 0.9999 0.9997 1 1 1 1 1 1 hom 2176.71 71 10 5255025 . A G 2176.71 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8713;MQ=59.30;MQ0=0;QD=30.66;VQSLOD=8.3990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2210,192,0 10 5415954 5415954 A G exonic UCN3 nonsynonymous SNV UCN3:NM_053049:exon2:c.A271G:p.R91G 0.45 0.33 0.55 0.55 0.31 0.56 0.3756 0.3529 0.4874 0.5320 0.2815 0.3038 0.4003 0.5393 0.31 0.34 0.3 0.38 0.23 rs10904481 COSM3733699 2(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.112 0.194 N 1 0.090 P -1.62 0.004 N 1.63 0.280 T 3.37 0.001 N 0.033 0.013 -0.910 0.469 T 0.000 0.000 T . . . -1.438 0.018 0.003 0.102 0.001 0.000 0.002 N c -1.449 -1.340 0.047 0.147 0.487 0.133 0 2.52 0.294 2.516 0.449 0.104 0.200 0.076 0.220 0.000 0.016 6.604 0.218 . . . 0.3707 0.3393 0.4731 0.3643 0.5336 0.2621 0.2929 0.3720 0.5367 0.3202 0.3381 0.4412 0.3742 0.5330 0.2628 0.2899 0.3579 het 158.19 18 10 5415954 . A G 158.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.353;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=58.71;MQ0=0;MQRankSum=0.530;QD=8.79;ReadPosRankSum=2.208;VQSLOD=5.7963;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:188,0,278 10 5435918 5435918 G A exonic TUBAL3 synonymous SNV TUBAL3:NM_001171864:exon4:c.C783T:p.A261A,TUBAL3:NM_024803:exon4:c.C903T:p.A301A 0.67 0.74 0.77 0.65 0.66 0.53 0.6546 0.7328 0.8081 0.6377 0.6789 0.6514 0.6465 0.5102 0.67 0.73 0.64 0.69 0.7 rs7097775 COSM1128035 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6605 0.7328 0.7931 0.6426 0.6357 0.6834 0.6515 0.6761 0.5131 0.6797 0.7301 0.7852 0.6755 0.6161 0.6884 0.6515 0.6477 hom 6353.70 187 10 5435918 . G A 6353.70 Mask AC=2;AF=1.00;AN=2;DP=187;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8239;MQ=59.45;MQ0=0;QD=33.98;VQSLOD=9.2107;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,187:187:99:6353,494,0 10 5436260 5436260 A G exonic TUBAL3 synonymous SNV TUBAL3:NM_001171864:exon4:c.T441C:p.A147A,TUBAL3:NM_024803:exon4:c.T561C:p.A187A 0.78 0.79 0.8 0.83 0.72 0.76 0.7381 0.7792 0.8382 0.8305 0.7129 0.7102 0.7013 0.7183 0.72 0.77 0.7 0.8 0.75 rs7910290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7407 0.7781 0.8280 0.6725 0.8241 0.7166 0.7129 0.7319 0.7219 0.7448 0.7830 0.8305 0.6921 0.8130 0.7235 0.7183 0.7152 hom 3387.09 110 10 5436260 . A G 3387.09 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.83;MQ0=0;QD=30.79;VQSLOD=8.9311;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3387,268,0 10 5437365 5437365 A G exonic TUBAL3 synonymous SNV TUBAL3:NM_001171864:exon3:c.T201C:p.A67A,TUBAL3:NM_024803:exon3:c.T321C:p.A107A 0.79 0.82 0.81 0.83 0.72 0.76 0.7417 0.8016 0.8437 0.8310 0.7126 0.7118 0.7020 0.7201 0.73 0.79 0.7 0.79 0.74 rs11253156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7425 0.8002 0.8344 0.6749 0.8229 0.7163 0.7135 0.7366 0.7193 0.7510 0.8022 0.8365 0.6954 0.8142 0.7229 0.7192 0.7203 hom 8113.89 247 10 5437365 . A G 8113.89 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7302;MQ=59.42;MQ0=0;QD=32.85;VQSLOD=9.7585;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:247:99:8113,623,0 10 5495218 5495218 T C exonic NET1 synonymous SNV NET1:NM_005863:exon5:c.T438C:p.Y146Y,NET1:NM_001047160:exon7:c.T600C:p.Y200Y 0.98 0.91 1. 1. 1. 1. 0.9929 0.9201 0.9972 1 1 1.0000 0.9989 1 0.97 0.92 1. 0.97 0.15 rs4567355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9945 0.9200 0.9967 1 1 1 0.9999 0.9976 1.0000 0.9761 0.9167 0.9940 1 1 1 0.9998 0.9959 hom 8221.96 249 10 5495218 . T C 8221.96 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4836;MQ=58.66;MQ0=0;QD=33.02;VQSLOD=6.7434;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8221,644,0 10 5567366 5567366 G A exonic CALML3 synonymous SNV CALML3:NM_005185:exon1:c.G318A:p.L106L 0.42 0.51 0.32 0.61 0.25 0.35 0.3255 0.4742 0.3414 0.6143 0.3213 0.2618 0.3190 0.3279 0.32 0.47 0.25 0.4 0.26 rs1142825 COSM3747198 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3215 0.4741 0.3385 0.2955 0.6176 0.3186 0.2518 0.2910 0.3300 0.3487 0.4674 0.3578 0.3033 0.6636 0.3288 0.2532 0.3106 het 801.39 64 10 5567366 . G A 801.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.369;DP=64;Dels=0.00;FS=1.027;HRun=0;HaplotypeScore=1.8308;MQ=59.64;MQ0=0;MQRankSum=0.859;QD=12.52;ReadPosRankSum=0.254;VQSLOD=6.8100;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,31:64:99:831,0,941 10 5781628 5781628 T G exonic FAM208B nonsynonymous SNV FAM208B:NM_001321785:exon13:c.T1252G:p.C418G,FAM208B:NM_017782:exon13:c.T1495G:p.C499G,FAM208B:NM_001321783:exon14:c.T1495G:p.C499G,FAM208B:NM_001321784:exon14:c.T1495G:p.C499G 0.84 0.89 0.88 0.81 0.84 0.76 0.8368 0.8795 0.9143 0.8117 0.8695 0.8308 0.8438 0.7810 0.84 0.87 0.83 0.87 0.83 rs2254067 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.334 0.141 N 1 0.090 P -1.21 0.008 N -4.37 0.973 D 2.23 0.003 N 0.106 0.112 -1.024 0.226 T 0.000 0.000 T . . . -2.810 0.002 0.001 0.500 0.042 0.001 0.005 N c -1.168 -1.133 0.098 0.163 0.707 0.730 0 2.38 0.283 0.379 0.202 -0.338 0.072 0.000 0.063 0.091 0.185 6.381 0.206 . . . 0.8383 0.8741 0.9039 0.7654 0.8088 0.8716 0.8334 0.8391 0.7823 0.8524 0.8766 0.8744 0.7616 0.8168 0.8728 0.8386 0.8449 hom 2708.27 84 10 5781628 . T G 2708.27 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.24;VQSLOD=14.0973;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2741,208,0 10 5781969 5781969 A T exonic FAM208B synonymous SNV FAM208B:NM_001321785:exon13:c.A1593T:p.T531T,FAM208B:NM_017782:exon13:c.A1836T:p.T612T,FAM208B:NM_001321783:exon14:c.A1836T:p.T612T,FAM208B:NM_001321784:exon14:c.A1836T:p.T612T 0.84 0.89 0.88 0.81 0.84 0.76 0.8364 0.8801 0.9132 0.8117 0.8695 0.8304 0.8400 0.7803 0.84 0.87 0.83 0.87 0.83 rs2797486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8380 0.8741 0.9032 0.7653 0.8086 0.8712 0.8331 0.8380 0.7817 0.8524 0.8767 0.8732 0.7616 0.8144 0.8731 0.8386 0.8452 hom 5460.22 178 10 5781969 . A T 5460.22 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7932;MQ=58.99;MQ0=0;QD=30.68;VQSLOD=8.6893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5460,415,0 10 5788608 5788608 G C exonic FAM208B nonsynonymous SNV FAM208B:NM_001321785:exon15:c.G2981C:p.R994P,FAM208B:NM_017782:exon15:c.G3224C:p.R1075P,FAM208B:NM_001321783:exon16:c.G3224C:p.R1075P,FAM208B:NM_001321784:exon16:c.G3224C:p.R1075P 0.84 0.89 0.88 0.81 0.84 0.76 0.8346 0.8806 0.9131 0.8110 0.8660 0.8274 0.84 0.7806 0.84 0.87 0.83 0.87 0.83 rs2797491 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.121 0.190 N 1 0.090 P -1.7 0.004 N 2.53 0.140 T 2.45 0.002 N 0.053 0.035 -1.010 0.270 T 0.000 0.000 T . . . -0.406 0.061 0.374 0.383 0.026 0.003 0.017 N c -1.417 -1.274 0.277 0.189 0.707 0.730 0 3.26 0.363 0.176 0.165 0.067 0.174 0.000 0.063 0.039 0.156 6.068 0.190 Domain of unknown function DUF3699 . . 0.8361 0.8756 0.9029 0.7648 0.8085 0.8682 0.8296 0.8378 0.7820 0.8509 0.8802 0.8699 0.7583 0.8154 0.8706 0.8342 0.8462 hom 4896.19 140 10 5788608 . G C 4896.19 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=34.97;VQSLOD=10.2158;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4896,382,0 10 5790420 5790420 T C exonic FAM208B nonsynonymous SNV FAM208B:NM_001321785:exon15:c.T4793C:p.V1598A,FAM208B:NM_017782:exon15:c.T5036C:p.V1679A,FAM208B:NM_001321783:exon16:c.T5036C:p.V1679A,FAM208B:NM_001321784:exon16:c.T5036C:p.V1679A 0.98 0.95 0.98 1. 0.99 0.98 0.9876 0.9548 0.9895 1 0.9923 0.9896 0.9867 0.9898 0.98 0.95 0.99 0.96 1. rs2669142 . . . . . . . . . . . . . 0.249 0.172 T 0.0 0.026 B 0.0 0.013 B 0.932 0.084 N 1 0.090 P -0.69 0.019 N 3.72 0.040 T 1.4 0.008 N 0.032 0.012 -1.060 0.117 T 0.000 0.000 T . . . -0.683 0.046 0.079 0.456 0.036 0.040 0.094 N c -1.814 -1.809 1.000 0.747 0.719 0.830 0 -3.28 0.047 -0.369 0.075 -2.104 0.004 0.000 0.063 0.000 0.016 0.424 0.004 . . . 0.9876 0.9507 0.9875 0.9723 0.9999 0.9932 0.9906 0.9792 0.9904 0.9827 0.9570 0.9845 0.9934 1 0.9923 0.9929 0.9868 hom 3294.26 105 10 5790420 . T C 3294.26 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.19;MQ0=0;QD=31.37;VQSLOD=9.4930;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3294,268,0 10 5804531 5804531 G A exonic FAM208B nonsynonymous SNV FAM208B:NM_001321785:exon20:c.G6968A:p.S2323N,FAM208B:NM_017782:exon20:c.G7211A:p.S2404N,FAM208B:NM_001321783:exon21:c.G7211A:p.S2404N,FAM208B:NM_001321784:exon21:c.G7211A:p.S2404N 0.85 0.87 0.91 0.82 0.87 0.81 0.8584 0.8710 0.9287 0.8145 0.8741 0.8583 0.8605 0.8186 0.86 0.86 0.86 0.88 0.57 rs2797501 . . . . . . . Osteosarcoma 1.61 . 23727862 rs2797501 8E-6 0.766 0.034 T 0.034 0.191 B 0.017 0.170 B 0.040 0.241 N 1.000 0.210 P 0.665 0.163 N 3.75 0.040 T 1.56 0.007 N 0.018 0.003 -0.989 0.329 T 0.000 0.000 T . . . 0.724 0.163 8.985 0.608 0.064 0.008 0.032 N c -0.857 -0.664 0.775 0.237 0.672 0.522 0 -0.384 0.118 0.212 0.172 -0.204 0.101 0.987 0.361 0.997 0.653 6.046 0.189 . . . 0.8504 0.8546 0.9108 0.7835 0.7852 0.8760 0.8554 0.8489 0.8099 0.8642 0.8715 0.9087 0.7815 0.8194 0.8746 0.8622 0.8640 het 870.82 72 10 5804531 . G A 870.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.727;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=58.22;MQ0=0;MQRankSum=0.383;QD=12.09;ReadPosRankSum=0.146;VQSLOD=6.5504;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:901,0,1067 10 5920121 5920121 T C exonic ANKRD16 nonsynonymous SNV ANKRD16:NM_001009941:exon7:c.A1058G:p.Q353R,ANKRD16:NM_019046:exon7:c.A1058G:p.Q353R 0.8 0.69 0.91 0.85 0.86 0.78 0.8524 0.7127 0.9293 0.8550 0.8819 0.8740 0.8535 0.7864 0.82 0.72 0.88 0.81 0.83 rs1052420 . . . . . . . . . . . . . 0.384 0.110 T 0.001 0.067 B 0.002 0.063 B 0.166 0.175 N 0.531 0.588 P 1.53 0.389 L -0.13 0.648 T -0.73 0.206 N 0.037 0.036 -1.014 0.256 T 0.000 0.000 T . . . 1.500 0.242 13.31 0.969 0.308 0.858 0.446 D c -0.561 -0.393 0.014 0.126 0.719 0.830 0 3.83 0.431 -0.059 0.116 -0.373 0.066 0.884 0.308 0.005 0.090 9.631 0.388 . ENSG00000232807.2|ENSG00000232807.2|ENSG00000134452.15 Nerve_Tibial|Thyroid|Thyroid 0.8589 0.7184 0.9239 0.8203 0.8591 0.8842 0.8774 0.8596 0.7849 0.8326 0.7124 0.9031 0.8633 0.8548 0.8814 0.8821 0.8635 het 2292.60 242 10 5920121 . T C 2292.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.380;DP=242;DS;Dels=0.00;FS=1.094;HRun=3;HaplotypeScore=6.3571;MQ=59.75;MQ0=0;MQRankSum=0.424;QD=9.47;ReadPosRankSum=-1.569;VQSLOD=4.0777;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:148,94:242:99:2323,0,4449 10 5925971 5925971 C A exonic ANKRD16 synonymous SNV ANKRD16:NM_001009941:exon4:c.G648T:p.G216G,ANKRD16:NM_001009943:exon4:c.G648T:p.G216G,ANKRD16:NM_019046:exon4:c.G648T:p.G216G 0.92 0.95 0.94 0.95 0.88 0.88 0.9061 0.9520 0.9472 0.9572 0.8960 0.8937 0.8954 0.8767 0.92 0.95 0.9 0.89 0.93 rs631947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9069 0.9522 0.9437 0.8564 0.9605 0.8984 0.8967 0.8949 0.8753 0.9154 0.9447 0.9272 0.8974 0.9642 0.8935 0.8988 0.9008 het 933.92 94 10 5925971 . C A 933.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.450;DP=94;Dels=0.00;FS=0.809;HRun=0;HaplotypeScore=2.3218;MQ=59.29;MQ0=0;MQRankSum=-1.665;QD=9.94;ReadPosRankSum=0.182;VQSLOD=5.4380;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,40:94:99:964,0,1395 10 6472891 6472891 G T exonic PRKCQ synonymous SNV PRKCQ:NM_001242413:exon16:c.C1657A:p.R553R,PRKCQ:NM_001282645:exon16:c.C1471A:p.R491R,PRKCQ:NM_001323266:exon16:c.C1471A:p.R491R,PRKCQ:NM_001282644:exon17:c.C1738A:p.R580R,PRKCQ:NM_001323265:exon17:c.C1846A:p.R616R,PRKCQ:NM_001323267:exon17:c.C1738A:p.R580R,PRKCQ:NM_006257:exon17:c.C1846A:p.R616R 0.12 0.13 0.11 0.031 0.22 0.12 0.1815 0.1424 0.0778 0.0368 0.2644 0.2241 0.1910 0.1488 0.19 0.14 0.22 0.11 0.22 rs11258747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1744 0.1461 0.0819 0.1509 0.0355 0.2541 0.2228 0.1802 0.1412 0.1897 0.1397 0.1026 0.1225 0.0395 0.2583 0.2237 0.2118 het 680.40 50 10 6472891 . G T 680.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.973;DP=50;Dels=0.00;FS=8.458;HRun=0;HaplotypeScore=2.4930;MQ=59.04;MQ0=0;MQRankSum=-0.370;QD=13.61;ReadPosRankSum=-1.110;VQSLOD=4.7602;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,27:50:99:710,0,545 10 6498723 6498723 G A exonic PRKCQ synonymous SNV PRKCQ:NM_001282645:exon14:c.C1185T:p.I395I,PRKCQ:NM_001323266:exon14:c.C1185T:p.I395I,PRKCQ:NM_001242413:exon15:c.C1560T:p.I520I,PRKCQ:NM_001282644:exon15:c.C1452T:p.I484I,PRKCQ:NM_001323265:exon15:c.C1560T:p.I520I,PRKCQ:NM_001323267:exon15:c.C1452T:p.I484I,PRKCQ:NM_006257:exon15:c.C1560T:p.I520I 0.14 0.16 0.12 0.065 0.22 0.14 0.1834 0.1558 0.0791 0.0621 0.2630 0.2197 0.1850 0.1584 0.2 0.16 0.22 0.098 0.17 rs11258943 COSM3751895 1(pancreas);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1771 0.1577 0.0826 0.1555 0.0645 0.2526 0.2190 0.1810 0.1524 0.1957 0.1567 0.1026 0.1192 0.0716 0.2570 0.2230 0.2168 het 808.70 79 10 6498723 . G A 808.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.063;DP=79;Dels=0.00;FS=6.214;HRun=1;HaplotypeScore=3.9847;MQ=59.45;MQ0=0;MQRankSum=0.522;QD=10.24;ReadPosRankSum=0.144;VQSLOD=4.9592;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,33:79:99:839,0,1227 10 6527143 6527143 G A exonic PRKCQ nonsynonymous SNV PRKCQ:NM_001282645:exon9:c.C614T:p.P205L,PRKCQ:NM_001323266:exon9:c.C614T:p.P205L,PRKCQ:NM_001242413:exon10:c.C989T:p.P330L,PRKCQ:NM_001282644:exon10:c.C881T:p.P294L,PRKCQ:NM_001323265:exon10:c.C989T:p.P330L,PRKCQ:NM_001323267:exon10:c.C881T:p.P294L,PRKCQ:NM_006257:exon10:c.C989T:p.P330L 0.37 0.37 0.37 0.38 0.23 0.47 0.3048 0.3608 0.3996 0.4143 0.1945 0.2448 0.2797 0.4334 0.28 0.35 0.25 0.43 0.31 rs2236379 COSM3751896;COSM146874 1(stomach);10(soft_tissue);1(pancreas);1(skin);5(prostate);2(large_intestine) . . . . . . . . . . . 0.349 0.180 T 0.0 0.026 B 0.001 0.040 B 0.101 0.199 N 1.000 0.199 P 0.35 0.120 N -0.3 0.679 T -1.03 0.270 N 0.034 0.374 -0.918 0.458 T 0.000 0.000 T . . . 0.343 0.127 6.104 0.323 0.019 0.006 0.026 N c -0.885 -0.992 0.113 0.167 0.706 0.609 0 -2.67 0.057 0.729 0.255 -0.232 0.094 0.012 0.185 0.002 0.062 5.465 0.158 Protein kinase C-like\x2c phorbol ester/diacylglycerol-binding domain . . 0.3047 0.3638 0.3845 0.2497 0.4130 0.196 0.2486 0.2775 0.4324 0.2905 0.3560 0.3783 0.2583 0.4106 0.1997 0.2566 0.2895 het 2590.14 229 10 6527143 . G A 2590.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.720;DP=229;DS;Dels=0.00;FS=3.789;HRun=0;HaplotypeScore=4.6214;MQ=59.39;MQ0=0;MQRankSum=1.993;QD=11.31;ReadPosRankSum=-2.098;VQSLOD=4.1620;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:131,98:229:99:2620,0,3537 10 6553071 6553071 T C exonic PRKCQ synonymous SNV PRKCQ:NM_001242413:exon3:c.A204G:p.R68R,PRKCQ:NM_001282644:exon3:c.A96G:p.R32R,PRKCQ:NM_001323265:exon3:c.A204G:p.R68R,PRKCQ:NM_001323267:exon3:c.A96G:p.R32R,PRKCQ:NM_006257:exon3:c.A204G:p.R68R 0.024 0.003 0.026 . 0.062 0.038 0.0532 0.0122 0.0198 0.0002 0.0883 0.0720 0.0595 0.0395 0.053 0.015 0.073 0.022 0.041 rs17555072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0525 0.0113 0.0187 0.0479 0.0003 0.0920 0.0726 0.0480 0.0403 0.0568 0.0148 0.0239 0.0596 0 0.1053 0.0777 0.0601 het 3148.24 215 10 6553071 . T C 3148.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.971;DP=215;DS;Dels=0.00;FS=2.369;HRun=1;HaplotypeScore=0.8941;MQ=59.79;MQ0=0;MQRankSum=-0.065;QD=14.64;ReadPosRankSum=-1.803;VQSLOD=6.1670;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,111:215:99:3178,0,2827 10 7285632 7285632 A G exonic SFMBT2 synonymous SNV SFMBT2:NM_001018039:exon9:c.T1008C:p.D336D,SFMBT2:NM_001029880:exon9:c.T1008C:p.D336D 0.9 0.89 0.96 0.91 0.92 0.86 0.9103 0.8915 0.9518 0.9263 0.9499 0.9143 0.9141 0.8520 0.9 0.89 0.91 0.85 0.65 rs2248474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9117 0.8903 0.9469 0.9122 0.9261 0.9466 0.9114 0.9137 0.8517 0.9113 0.8888 0.9439 0.8967 0.9216 0.9516 0.9128 0.9053 hom 2131.14 70 10 7285632 . A G 2131.14 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.34;MQ0=0;QD=30.44;VQSLOD=9.2244;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2164,172,0 10 7605067 7605067 C T exonic ITIH5 nonsynonymous SNV ITIH5:NM_032817:exon11:c.G2165A:p.R722Q,ITIH5:NM_030569:exon15:c.G2807A:p.R936Q 0.57 0.41 0.62 0.52 0.77 0.61 0.6936 0.4583 0.6935 0.4717 0.7292 0.7657 0.7195 0.6495 0.66 0.46 0.77 0.58 0.8 rs3824658 COSM3998092 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . 0.022 0.007 -1.046 0.157 T 0.000 0.000 T . . . 1.094 0.199 11.18 0.736 0.100 0.025 0.070 N c -1.233 -1.444 1.000 0.436 0.615 0.372 0 -6.94 0.015 -0.975 0.039 -1.277 0.014 0.000 0.063 0.003 0.074 2.044 0.033 . . . 0.7017 0.4586 0.6910 0.7707 0.4747 0.7490 0.7696 0.7408 0.6476 0.7104 0.5028 0.7673 0.8209 0.6299 0.7835 0.8116 0.7456 hom 8434.87 247 10 7605067 . C T 8434.87 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6332;MQ=59.23;MQ0=0;QD=34.15;VQSLOD=9.2072;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:8434,662,0 10 7605101 7605101 A G exonic ITIH5 nonsynonymous SNV ITIH5:NM_032817:exon10:c.T2132C:p.F711S,ITIH5:NM_030569:exon14:c.T2774C:p.F925S 0.97 0.88 0.99 1. 1. 1. 0.9909 0.9101 0.9941 1 1 0.9986 0.9923 0.9998 0.97 0.91 1. 0.97 0.98 rs10795551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9926 0.9096 0.9934 0.9975 1 1 0.9987 0.9925 0.9996 0.9739 0.9111 0.9893 1 1 1 0.9988 0.9939 hom 8429.81 250 10 7605101 . A G 8429.81 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7799;MQ=59.02;MQ0=0;QD=33.72;VQSLOD=9.1709;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8397,671,0 10 7618501 7618501 A G exonic ITIH5 synonymous SNV ITIH5:NM_032817:exon6:c.T1251C:p.D417D,ITIH5:NM_001001851:exon10:c.T1893C:p.D631D,ITIH5:NM_030569:exon10:c.T1893C:p.D631D 0.53 0.36 0.55 0.77 0.52 0.51 0.5481 0.4080 0.5484 0.7660 0.5931 0.5400 0.5687 0.5331 0.49 0.41 0.54 0.48 0.39 rs2275068 COSM3722206;COSM1349156;COSM427934 1(upper_aerodigestive_tract);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5507 0.4019 0.5490 0.5069 0.7800 0.5873 0.5398 0.5303 0.5288 0.5181 0.4131 0.5443 0.5331 0.7748 0.5837 0.5326 0.5407 het 590.09 58 10 7618501 . A G 590.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=58;Dels=0.00;FS=1.032;HRun=0;HaplotypeScore=2.6406;MQ=58.88;MQ0=0;MQRankSum=0.490;QD=10.17;ReadPosRankSum=-0.646;VQSLOD=5.7451;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,28:58:99:620,0,850 10 7618686 7618686 T G exonic ITIH5 nonsynonymous SNV ITIH5:NM_032817:exon6:c.A1066C:p.T356P,ITIH5:NM_001001851:exon10:c.A1708C:p.T570P,ITIH5:NM_030569:exon10:c.A1708C:p.T570P 0.53 0.36 0.55 0.77 0.52 0.51 0.5460 0.3994 0.5477 0.7693 0.5896 0.5381 0.5662 0.5333 0.49 0.41 0.54 0.49 0.43 rs2275069 COSM4999416;COSM4999415;COSM4999417 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.055 0.226 N 1 0.090 P . . . 2.76 0.115 T 1.44 0.008 N 0.064 0.080 -1.052 0.139 T 0.000 0.000 T . . . -1.713 0.012 0.002 0.087 0.001 0.017 0.053 N c -1.300 -1.297 0.633 0.220 0.646 0.450 0 1.31 0.207 -0.115 0.106 -0.233 0.094 0.000 0.063 0.037 0.154 1.325 0.020 . . . 0.5510 0.4004 0.5480 0.5050 0.7831 0.5899 0.5399 0.5296 0.5293 0.5167 0.4099 0.5442 0.5232 0.7766 0.5839 0.5320 0.5388 het 1004.67 84 10 7618686 . T G 1004.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.389;DP=84;Dels=0.00;FS=18.681;HRun=2;HaplotypeScore=1.6498;MQ=59.73;MQ0=0;MQRankSum=1.688;QD=11.96;ReadPosRankSum=0.272;VQSLOD=3.1471;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,35:84:99:1035,0,1273 10 7621771 7621771 A G exonic ITIH5 synonymous SNV ITIH5:NM_032817:exon5:c.T723C:p.C241C,ITIH5:NM_001001851:exon9:c.T1365C:p.C455C,ITIH5:NM_030569:exon9:c.T1365C:p.C455C 0.14 0.1 0.2 0.006 0.28 0.12 0.1979 0.1173 0.1919 0.0090 0.2777 0.2449 0.1887 0.1305 0.21 0.12 0.25 0.12 0.3 rs17431370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1992 0.1138 0.1854 0.2164 0.0083 0.2789 0.2453 0.2119 0.1307 0.2000 0.1104 0.1794 0.2483 0.0074 0.2864 0.2507 0.2378 het 1764.03 143 10 7621771 . A G 1764.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.519;DP=143;Dels=0.00;FS=2.112;HRun=0;HaplotypeScore=2.8033;MQ=59.87;MQ0=0;MQRankSum=-1.394;QD=12.34;ReadPosRankSum=1.984;VQSLOD=4.9223;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,67:143:99:1794,0,1934 10 7622009 7622009 G A exonic ITIH5 nonsynonymous SNV ITIH5:NM_032817:exon5:c.C485T:p.A162V,ITIH5:NM_001001851:exon9:c.C1127T:p.A376V,ITIH5:NM_030569:exon9:c.C1127T:p.A376V 0.059 0.014 0.11 0.004 0.11 0.091 0.1104 0.0294 0.1450 0.0099 0.1703 0.1271 0.0940 0.0990 0.079 0.023 0.11 0.087 0.11 rs41298373 COSM5880957;COSM5880956;COSM5880958 1(soft_tissue) . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.999 0.916 D 0.000 0.629 D 0.002 0.449 P . . . -2.54 0.895 D -3.49 0.680 D 0.546 0.687 -0.517 0.681 T 0.092 0.350 T . . . 6.026 0.829 27.9 0.999 0.965 0.969 0.711 D c 0.588 0.556 1.000 0.467 0.706 0.609 0 5.23 0.725 5.984 0.700 1.045 0.669 1.000 0.715 0.972 0.466 14.407 0.665 von Willebrand factor\x2c type A . . 0.0950 0.0219 0.1102 0.1190 0.0070 0.1391 0.1054 0.0987 0.0888 0.0843 0.0220 0.0931 0.1159 0.0068 0.1434 0.1119 0.1186 het 225.02 27 10 7622009 . G A 225.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.702;DP=27;Dels=0.00;FS=2.944;HRun=0;HaplotypeScore=0.0000;MQ=58.27;MQ0=0;MQRankSum=-0.123;QD=8.33;ReadPosRankSum=-0.962;VQSLOD=4.5688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:255,0,461 10 7679393 7679393 C T exonic ITIH5 synonymous SNV ITIH5:NM_001001851:exon5:c.G450A:p.K150K,ITIH5:NM_030569:exon5:c.G450A:p.K150K 0.45 0.61 0.22 0.46 0.31 0.52 0.3695 0.5709 0.1704 0.4635 0.4275 0.3269 0.3689 0.4816 0.4 0.57 0.31 0.42 0.34 rs6602256 COSM3751976;COSM3751978;COSM3751977 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3587 0.5768 0.1845 0.2826 0.4637 0.4320 0.3249 0.3305 0.4808 0.4218 0.5730 0.1921 0.3013 0.4833 0.4312 0.3416 0.4031 het 1194.35 85 10 7679393 . C T 1194.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.666;DP=85;Dels=0.00;FS=0.805;HRun=2;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;MQRankSum=-1.718;QD=14.05;ReadPosRankSum=-0.505;VQSLOD=5.2856;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,42:85:99:1224,0,1223 10 7763661 7763661 A G exonic ITIH2 nonsynonymous SNV ITIH2:NM_002216:exon8:c.A788G:p.N263S 0.99 0.97 1. 1. 1. 1. 0.9973 0.9717 0.9987 1 1 0.9998 1 0.9999 0.99 0.97 1. 0.97 1. rs7075296 . . . . . . . . . . . . . 0.108 0.294 T 0.043 0.202 B 0.014 0.158 B 0.001 0.432 N 0.999 0.211 P 1.055 0.270 L -1.13 0.777 T -1.16 0.297 N 0.006 0.004 -1.006 0.283 T 0.000 0.000 T . . . -1.844 0.010 0.002 0.431 0.032 0.199 0.206 N c -1.686 -1.701 0.039 0.144 0.487 0.133 0 -3.6 0.043 -0.409 0.072 -2.075 0.004 0.001 0.137 0.005 0.090 8.705 0.333 von Willebrand factor\x2c type A . . 0.9979 0.9720 0.9985 0.9998 1 1 0.9998 0.9987 1.0000 0.9907 0.9670 0.9988 1 1 1 1 1 hom 8134.23 248 10 7763661 . A G 8134.23 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3242;MQ=59.48;MQ0=0;QD=32.80;VQSLOD=7.0898;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8133,632,0 10 7780646 7780646 C G exonic ITIH2 nonsynonymous SNV ITIH2:NM_002216:exon16:c.C2020G:p.P674A 0.084 0.0091 0.027 0.24 0.063 0.092 0.0760 0.0177 0.0273 0.2435 0.0990 0.0638 0.0826 0.0989 0.047 0.021 0.06 0.065 0.049 rs3740217 COSM3998095 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.219 0.190 T 0.002 0.090 B 0.007 0.121 B 0.000 0.002 N 1.000 0.090 P 0.49 0.133 N 4.67 0.018 T -1.5 0.366 N 0.087 0.135 -0.902 0.478 T 0.000 0.000 T . . . 0.101 0.103 3.622 0.820 0.135 0.106 0.159 N c -0.498 -0.491 0.222 0.184 0.554 0.246 0 5.23 0.725 2.002 0.402 0.934 0.450 0.073 0.219 0.003 0.074 7.649 0.273 . . . 0.0778 0.0153 0.0309 0.0687 0.2507 0.0999 0.0648 0.0722 0.0988 0.0705 0.0199 0.0346 0.0530 0.2683 0.1030 0.0729 0.0798 het 1850.09 154 10 7780646 . C G 1850.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.028;DP=154;Dels=0.00;FS=1.304;HRun=0;HaplotypeScore=3.6781;MQ=59.25;MQ0=0;MQRankSum=0.179;QD=12.01;ReadPosRankSum=0.919;VQSLOD=5.5756;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,67:154:99:1880,0,2544 10 8006798 8006798 A G exonic TAF3 nonsynonymous SNV TAF3:NM_031923:exon3:c.A1325G:p.N442S 0.54 0.26 0.73 0.71 0.62 0.53 0.6047 0.3251 0.7936 0.7033 0.6514 0.6069 0.6239 0.5571 0.53 0.36 0.61 0.48 0.48 rs4747647 . . . . . . . . . . . . . 0.322 0.135 T 0.003 0.102 B 0.003 0.080 B 0.022 0.268 N 1 0.090 P 1.6 0.409 L 2.27 0.174 T -1.12 0.289 N 0.004 0.000 -0.981 0.348 T 0.000 0.000 T . . . -1.092 0.029 0.010 0.825 0.137 0.083 0.141 N c -0.924 -0.900 0.003 0.101 0.707 0.730 0 1.74 0.235 -0.159 0.100 -0.532 0.049 0.000 0.063 0.111 0.193 6.774 0.226 . . . 0.6161 0.3224 0.7747 0.6650 0.7036 0.6504 0.6003 0.6309 0.5543 0.5381 0.3267 0.7524 0.6126 0.6869 0.6483 0.6007 0.6133 het 2202.19 138 10 8006798 . A G 2202.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.419;DP=138;Dels=0.00;FS=0.705;HRun=0;HaplotypeScore=2.4434;MQ=59.00;MQ0=0;MQRankSum=0.847;QD=15.96;ReadPosRankSum=-0.392;VQSLOD=6.3426;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,77:138:99:2232,0,1643 10 11299735 11299735 A T exonic CELF2 synonymous SNV CELF2:NM_001326338:exon4:c.A84T:p.V28V,CELF2:NM_001326339:exon4:c.A84T:p.V28V,CELF2:NM_001025076:exon5:c.A345T:p.V115V,CELF2:NM_001025077:exon5:c.A417T:p.V139V,CELF2:NM_001083591:exon5:c.A345T:p.V115V,CELF2:NM_001326329:exon5:c.A345T:p.V115V,CELF2:NM_001326330:exon5:c.A345T:p.V115V,CELF2:NM_001326331:exon5:c.A417T:p.V139V,CELF2:NM_001326332:exon5:c.A417T:p.V139V,CELF2:NM_001326335:exon5:c.A417T:p.V139V,CELF2:NM_001326336:exon5:c.A417T:p.V139V,CELF2:NM_001326337:exon5:c.A417T:p.V139V,CELF2:NM_001326340:exon5:c.A438T:p.V146V,CELF2:NM_001326341:exon5:c.A438T:p.V146V,CELF2:NM_001326342:exon5:c.A438T:p.V146V,CELF2:NM_001326343:exon5:c.A438T:p.V146V,CELF2:NM_001326344:exon5:c.A345T:p.V115V,CELF2:NM_001326345:exon5:c.A345T:p.V115V,CELF2:NM_001326347:exon5:c.A369T:p.V123V,CELF2:NM_001326348:exon5:c.A345T:p.V115V,CELF2:NM_001326349:exon5:c.A345T:p.V115V,CELF2:NM_006561:exon5:c.A438T:p.V146V,CELF2:NM_001326324:exon6:c.A345T:p.V115V,CELF2:NM_001326326:exon6:c.A453T:p.V151V,CELF2:NM_001326327:exon6:c.A453T:p.V151V,CELF2:NM_001326334:exon6:c.A345T:p.V115V,CELF2:NM_001326317:exon7:c.A345T:p.V115V,CELF2:NM_001326318:exon7:c.A345T:p.V115V,CELF2:NM_001326321:exon7:c.A345T:p.V115V,CELF2:NM_001326325:exon7:c.A510T:p.V170V,CELF2:NM_001326328:exon7:c.A345T:p.V115V,CELF2:NM_001326319:exon8:c.A345T:p.V115V,CELF2:NM_001326320:exon8:c.A345T:p.V115V,CELF2:NM_001326323:exon8:c.A345T:p.V115V 0.78 0.74 0.75 0.86 0.72 0.84 0.7576 0.7362 0.7386 0.8459 0.7439 0.7371 0.7472 0.8266 0.74 0.74 0.74 0.73 0.75 rs2277212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7545 0.7399 0.7253 0.6760 0.8473 0.7393 0.7412 0.7417 0.8280 0.7438 0.7412 0.7303 0.6192 0.8333 0.7345 0.7412 0.7434 hom 2257.90 73 10 11299735 . A T 2257.90 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=30.93;VQSLOD=9.3897;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2291,178,0 10 11504752 11504752 T C exonic USP6NL synonymous SNV USP6NL:NM_001080491:exon14:c.A2226G:p.P742P,USP6NL:NM_014688:exon15:c.A2175G:p.P725P 0.099 0.023 0.062 0.13 0.066 0.23 0.0801 0.0259 0.0374 0.1286 0.0251 0.0639 0.0926 0.2038 0.051 0.025 0.062 0.033 . rs12570211 COSM3997752 5(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0779 0.0260 0.0388 0.1331 0.1287 0.0289 0.0599 0.0812 0.2007 0.0442 0.0226 0.0430 0.1556 0.1302 0.0315 0.0469 0.0653 het 1553.49 121 10 11504752 . T C 1553.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.340;DP=121;Dels=0.00;FS=6.384;HRun=0;HaplotypeScore=2.9693;MQ=58.80;MQ0=0;MQRankSum=1.330;QD=12.84;ReadPosRankSum=0.669;VQSLOD=5.1015;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,66:121:99:1583,0,1430 10 11505175 11505175 A G exonic USP6NL synonymous SNV USP6NL:NM_001080491:exon14:c.T1803C:p.P601P,USP6NL:NM_014688:exon15:c.T1752C:p.P584P 0.5 0.58 0.3 0.74 0.3 0.49 0.3697 0.5492 0.2554 0.7222 0.2496 0.3085 0.3356 0.4574 0.38 0.51 0.31 0.46 . rs3740204 COSM5826603;COSM3751529 1(urinary_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3624 0.5519 0.2565 0.4196 0.7131 0.2534 0.3064 0.3416 0.4551 0.3824 0.5482 0.2661 0.4172 0.6865 0.2447 0.2960 0.3061 het 893.58 54 10 11505175 . A G 893.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.481;DP=54;Dels=0.00;FS=2.294;HRun=2;HaplotypeScore=2.4595;MQ=58.71;MQ0=0;MQRankSum=2.216;QD=16.55;ReadPosRankSum=-1.032;VQSLOD=5.1150;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,30:54:99:924,0,661 10 11789382 11789382 G A exonic ECHDC3 nonsynonymous SNV ECHDC3:NM_024693:exon2:c.G205A:p.A69T 0.91 0.69 0.97 1. 1. 1. 0.9744 0.7307 0.9884 0.9999 0.9997 0.9979 0.9879 0.9992 0.91 0.74 1. 0.87 0.97 rs4750090 . . . . . . . . . . . . . 0.122 0.285 T 0.989 0.609 D 0.846 0.587 P 0.000 0.843 D 0.000 0.588 P 2.555 0.748 M -0.51 0.706 T -2.37 0.589 N 0.648 0.776 -1.025 0.222 T 0.000 0.000 T . . . 4.980 0.670 25.1 0.999 0.989 0.909 0.522 D c 0.755 0.690 1.0 0.983 0.706 0.609 0 5.53 0.825 6.514 0.735 1.048 0.713 1.000 0.715 0.777 0.329 18.433 0.905 ClpP/crotonase-like domain ENSG00000134463.10|ENSG00000134463.10 Muscle_Skeletal|Whole_Blood 0.9796 0.7259 0.9868 0.9918 0.9999 0.9999 0.9982 0.9883 0.9991 0.9238 0.7337 0.9857 0.9901 1 0.9997 0.9991 0.9908 hom 5205.18 162 10 11789382 . G A 5205.18 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4942;MQ=59.20;MQ0=0;QD=32.13;VQSLOD=9.6899;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5204,415,0 10 11789405 11789405 G A exonic ECHDC3 synonymous SNV ECHDC3:NM_024693:exon2:c.G228A:p.K76K 0.92 0.72 0.98 1. 1. 1. 0.9786 0.7687 0.9906 0.9999 1 0.9990 0.9912 0.9993 0.92 0.78 1. 0.87 0.97 rs4750091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9829 0.7637 0.9895 0.9918 0.9999 1 0.9993 0.9905 0.9992 0.9344 0.7698 0.9905 0.9901 0.9994 1 0.9996 0.9929 hom 5900.50 186 10 11789405 . G A 5900.50 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4754;MQ=59.25;MQ0=0;QD=31.72;VQSLOD=8.2360;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5900,466,0 10 11797436 11797436 T C exonic ECHDC3 synonymous SNV ECHDC3:NM_024693:exon4:c.T420C:p.V140V 0.93 0.75 0.98 1. 1. 1. 0.9813 0.7987 0.9921 0.9999 1 0.9991 0.9934 0.9993 0.94 0.81 1. 0.91 0.97 rs7899215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9851 0.7961 0.9908 0.9918 0.9999 1 0.9993 0.9916 0.9992 0.9443 0.8046 0.9905 0.9901 1 1 0.9996 0.9929 hom 3840.68 125 10 11797436 . T C 3840.68 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.6927;MQ=57.27;MQ0=0;QD=30.73;VQSLOD=5.8040;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3840,298,0 10 11797467 11797467 G A exonic ECHDC3 nonsynonymous SNV ECHDC3:NM_024693:exon4:c.G451A:p.A151T 0.92 0.7 0.98 1. 1. 1. 0.9757 0.7381 0.9890 0.9999 1 0.9988 0.9890 0.9993 0.91 0.74 1. 0.86 0.97 rs7910140 . . . . . . . . . . . . . 1.0 0.010 T 0.007 0.131 B 0.023 0.188 B 0.000 0.843 N 0.775 0.294 P -1.235 0.008 N -0.3 0.679 T 2.18 0.003 N 0.226 0.420 -0.933 0.437 T 0.000 0.000 T . . . 1.549 0.248 13.58 0.414 0.030 0.233 0.218 N c -0.832 -0.579 0.777 0.237 0.615 0.372 0 4.16 0.480 5.096 0.641 0.202 0.252 1.000 0.715 0.801 0.336 6.782 0.227 ClpP/crotonase-like domain ENSG00000134463.10|ENSG00000134463.10 Muscle_Skeletal|Whole_Blood 0.9805 0.7319 0.9872 0.9918 0.9999 1 0.9990 0.9889 0.9992 0.9259 0.7405 0.9868 0.9901 1 1 0.9994 0.9908 hom 3099.64 102 10 11797467 . G A 3099.64 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7569;MQ=58.63;MQ0=0;QD=30.39;VQSLOD=8.4829;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:102:99:3133,259,0 10 11805339 11805339 C T exonic ECHDC3 synonymous SNV ECHDC3:NM_024693:exon5:c.C708T:p.I236I 0.2 0.02 0.24 0.31 0.21 0.28 0.2081 0.0452 0.2458 0.3007 0.2080 0.2009 0.2367 0.2631 0.15 0.054 0.21 0.21 0.33 rs17850531 COSM4419199 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2127 0.0414 0.2431 0.2006 0.3080 0.2021 0.2009 0.2098 0.2656 0.1598 0.0469 0.2446 0.1788 0.3040 0.1969 0.1943 0.1902 hom 2574.59 85 10 11805339 . C T 2574.59 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7331;MQ=57.06;MQ0=0;QD=30.29;VQSLOD=5.7953;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2608,211,0 10 11805354 11805354 A G exonic ECHDC3 synonymous SNV ECHDC3:NM_024693:exon5:c.A723G:p.A241A 0.52 0.38 0.51 0.54 0.59 0.6 0.5551 0.4346 0.4687 0.5416 0.5237 0.5851 0.5457 0.5905 0.54 0.44 0.6 0.49 0.7 rs12258196 COSM3747134 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5561 0.4289 0.4765 0.6509 0.5487 0.5185 0.5870 0.5467 0.5952 0.5245 0.4295 0.5132 0.67 0.5296 0.5186 0.5763 0.5557 hom 2100.63 72 10 11805354 . A G 2100.63 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56.72;MQ0=0;QD=29.18;VQSLOD=6.2334;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2134,177,0 10 11805357 11805357 G A exonic ECHDC3 synonymous SNV ECHDC3:NM_024693:exon5:c.G726A:p.S242S 0.52 0.39 0.51 0.54 0.59 0.6 0.5550 0.4346 0.4689 0.5416 0.5235 0.5851 0.5457 0.5901 0.54 0.44 0.6 0.49 0.7 rs10906011 COSM3747135 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5562 0.4289 0.4766 0.6510 0.5486 0.5198 0.5870 0.5467 0.5949 0.5243 0.4292 0.5120 0.6745 0.5296 0.5189 0.5761 0.5535 hom 2173.69 74 10 11805357 . G A 2173.69 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.14;MQ0=0;QD=29.37;VQSLOD=6.6377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2207,184,0 10 12046546 12046546 T C exonic UPF2 nonsynonymous SNV UPF2:NM_015542:exon5:c.A1487G:p.N496S,UPF2:NM_080599:exon5:c.A1487G:p.N496S 0.054 0.003 0.046 . 0.13 0.11 0.1092 0.0233 0.0462 0.0006 0.1206 0.1399 0.0932 0.1351 0.094 0.026 0.13 0.033 0.098 rs7079388 COSM3751555;COSM3751556 1(large_intestine) . . . . . . . . . . . 0.819 0.030 T 0.0 0.026 B 0.001 0.040 B 0.079 0.210 N 0.925 0.320 P 0.55 0.145 N 1.29 0.358 T -0.07 0.080 N 0.02 0.004 -1.013 0.261 T 0.000 0.001 T . . . 0.058 0.099 3.167 0.769 0.113 0.627 0.316 D c -0.676 -0.478 0.000 0.061 0.732 0.924 0 2.65 0.305 0.006 0.129 1.061 0.807 0.955 0.331 0.998 0.697 7.274 0.253 . . . 0.1015 0.0193 0.0445 0.1284 0.0008 0.1187 0.1319 0.1017 0.1297 0.0880 0.0242 0.0501 0.1523 0 0.1198 0.1271 0.1033 het 359.65 31 10 12046546 . T C 359.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.918;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=2.600;QD=11.60;ReadPosRankSum=-1.131;VQSLOD=5.1876;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,14:31:99:390,0,432 10 12111090 12111090 T C exonic DHTKD1 nonsynonymous SNV DHTKD1:NM_018706:exon1:c.T58C:p.F20L 0.97 0.89 0.99 1. 1. 1. 0.9907 0.8949 0.9939 1 0.9992 0.9998 0.9977 0.9999 0.97 0.91 1. 0.73 0.74 rs1279138 COSM4144373 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.291 N 1 0.090 P -1.235 0.008 N 3.69 0.153 T 0.2 0.061 N 0.028 0.437 -1.053 0.137 T 0.000 0.000 T . . . -1.814 0.011 0.002 0.563 0.054 0.009 0.034 N c -2.008 -1.955 1.000 0.747 0.442 0.072 0 -0.088 0.130 -0.834 0.045 -0.318 0.077 0.000 0.063 0.223 0.222 4.277 0.102 . . . 0.9924 0.8938 0.9946 1 1 0.9985 0.9998 0.9950 0.9999 0.9703 0.8967 0.9940 1 1 0.9994 0.9995 0.9929 hom 845.12 28 10 12111090 . T C 845.12 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.18;VQSLOD=13.5597;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:69.21:878,69,0 10 12131081 12131081 T G exonic DHTKD1 nonsynonymous SNV DHTKD1:NM_018706:exon5:c.T814G:p.Y272D 0.48 0.21 0.47 0.48 0.59 0.76 0.5596 0.2513 0.4870 0.4610 0.4743 0.5992 0.5716 0.7297 0.48 0.27 0.59 0.35 0.57 rs3740015 COSM3751560 1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.180 0.348 P -1.96 0.002 N -3.83 0.958 D 2.4 0.003 N 0.062 0.496 -0.909 0.470 T 0.000 0.000 T . . . 0.699 0.161 8.822 0.407 0.029 0.150 0.185 N c -0.716 -0.451 0.830 0.246 0.707 0.730 0 4.19 0.485 6.827 0.749 0.136 0.221 1.000 0.715 0.934 0.407 12.156 0.532 Dehydrogenase\x2c E1 component|Thiamin diphosphate-binding fold . . 0.5576 0.2477 0.4927 0.6499 0.4566 0.4698 0.5983 0.5628 0.7247 0.4695 0.2677 0.4976 0.6533 0.4457 0.4900 0.5745 0.5452 hom 6764.95 207 10 12131081 . T G 6764.95 Mask AC=2;AF=1.00;AN=2;DP=207;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5572;MQ=59.60;MQ0=0;QD=32.68;VQSLOD=9.8939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6764,536,0 10 12143105 12143105 C G exonic DHTKD1 nonsynonymous SNV DHTKD1:NM_018706:exon10:c.C1821G:p.I607M 0.72 0.55 0.69 0.71 0.82 0.9 0.7788 0.5885 0.6896 0.6878 0.7489 0.8125 0.7764 0.8845 0.74 0.6 0.81 0.65 0.73 rs2062988 COSM3751561 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 0.608 0.309 P -0.88 0.014 N -2.85 0.914 D 3.31 0.001 N 0.064 0.414 -1.044 0.161 T 0.000 0.000 T . . . 1.992 0.300 16.16 0.255 0.012 0.233 0.218 N c -0.095 0.102 0.996 0.342 0.707 0.730 0 5.48 0.806 7.268 0.777 0.136 0.221 1.000 0.715 1.000 0.888 14.857 0.699 Thiamin diphosphate-binding fold|Transketolase-like\x2c pyrimidine-binding domain . . 0.7772 0.5901 0.6968 0.8278 0.6837 0.7502 0.8135 0.7796 0.8810 0.7254 0.6064 0.6986 0.8113 0.6751 0.7633 0.7880 0.7704 hom 6201.27 193 10 12143105 . C G 6201.27 Mask AC=2;AF=1.00;AN=2;DP=193;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5741;MQ=58.96;MQ0=0;QD=32.13;VQSLOD=8.1395;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:6201,475,0 10 12148259 12148259 A C exonic DHTKD1 synonymous SNV DHTKD1:NM_018706:exon11:c.A1911C:p.P637P 0.95 0.83 0.99 1. 1. 1. 0.9858 0.8475 0.9925 1 1 0.9994 0.9901 0.9995 0.95 0.85 1. 0.87 1. rs1701472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9890 0.8456 0.9936 0.9974 1 1 0.9996 0.9923 0.9995 0.9571 0.8507 0.9881 0.9901 1 1 0.9995 0.9939 hom 3769.46 116 10 12148259 . A C 3769.46 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=32.50;VQSLOD=9.6325;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3769,289,0 10 12148286 12148286 T C exonic DHTKD1 synonymous SNV DHTKD1:NM_018706:exon11:c.T1938C:p.F646F 0.96 0.87 0.99 1. 1. 1. 0.9888 0.8789 0.9953 1 1 0.9995 0.9912 0.9995 0.96 0.88 1. 0.91 1. rs1615510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9912 0.8764 0.9953 0.9974 1 1 0.9997 0.9949 0.9994 0.9666 0.8836 0.9905 0.9901 1 1 0.9997 0.9969 hom 4226.07 138 10 12148286 . T C 4226.07 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.36;MQ0=0;QD=30.62;VQSLOD=9.0523;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4225,346,0 10 12149939 12149939 C T exonic DHTKD1 synonymous SNV DHTKD1:NM_018706:exon12:c.C2079T:p.I693I 0.9 0.8 0.94 0.98 0.9 0.93 0.9029 0.8053 0.9283 0.9730 0.9327 0.8990 0.9218 0.9126 0.86 0.81 0.89 0.81 0.93 rs1722462 COSM5034042 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9072 0.8059 0.9304 0.9098 0.9733 0.9306 0.8975 0.9132 0.9114 0.8830 0.8081 0.9187 0.9139 0.9747 0.9321 0.8996 0.9297 hom 4165.80 135 10 12149939 . C T 4165.80 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=30.86;VQSLOD=9.3562;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4165,319,0 10 12191933 12191933 C T exonic SEC61A2 synonymous SNV SEC61A2:NM_001142628:exon5:c.C369T:p.A123A,SEC61A2:NM_001142627:exon6:c.C435T:p.A145A,SEC61A2:NM_018144:exon6:c.C435T:p.A145A 0.42 0.41 0.5 0.53 0.41 0.31 0.4165 0.4216 0.4774 0.5338 0.3911 0.4215 0.3899 0.3010 0.42 0.42 0.42 0.41 0.38 rs10466280 COSM3751568;COSM4144379;COSM3751569 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4185 0.4176 0.4669 0.4152 0.5346 0.3828 0.4251 0.4234 0.3033 0.4254 0.4181 0.4641 0.4073 0.5570 0.3696 0.4277 0.4107 het 1955.16 157 10 12191933 . C T 1955.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.803;DP=157;Dels=0.00;FS=3.064;HRun=0;HaplotypeScore=4.4807;MQ=59.38;MQ0=0;MQRankSum=-0.614;QD=12.45;ReadPosRankSum=0.670;VQSLOD=5.4750;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,83:157:99:1985,0,1772 10 12209752 12209752 T C exonic NUDT5 synonymous SNV NUDT5:NM_001321647:exon9:c.A600G:p.A200A,NUDT5:NM_014142:exon10:c.A609G:p.A203A,NUDT5:NM_001321648:exon11:c.A351G:p.A117A 0.46 0.43 0.52 0.56 0.48 0.35 0.4763 0.4480 0.5277 0.5574 0.4459 0.4949 0.4229 0.3556 0.48 0.45 0.5 0.46 0.45 rs6686 COSM3751570;COSM3751571 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4777 0.4422 0.5129 0.4448 0.5571 0.4399 0.5031 0.4724 0.3591 0.4818 0.4484 0.5132 0.4338 0.5752 0.4246 0.5049 0.4623 het 2839.91 250 10 12209752 . T C 2839.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.854;DP=250;DS;Dels=0.00;FS=1.571;HRun=0;HaplotypeScore=3.9645;MQ=58.93;MQ0=0;MQRankSum=0.738;QD=11.36;ReadPosRankSum=-0.412;VQSLOD=5.8821;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:2870,0,3526 10 12595329 12595329 A G exonic CAMK1D nonsynonymous SNV CAMK1D:NM_020397:exon2:c.A198G:p.I66M,CAMK1D:NM_153498:exon2:c.A198G:p.I66M 0.002 0.0008 0.0014 . 0.007 0.001 0.0071 0.0022 0.0035 0 0.0021 0.0110 0.0044 0.0025 0.0087 0.0025 0.012 . . rs34194224 COSM5019538;COSM5019537 1(soft_tissue) . . . . . . . . . . . 0.12 0.279 T 0.086 0.234 B 0.063 0.262 B 0.000 0.629 D 0.988 0.407 D 0.355 0.120 N 0.99 0.418 T -1.12 0.289 N 0.228 0.418 -1.073 0.087 T 0.035 0.151 T . . . 1.513 0.244 13.38 0.964 0.290 0.161 0.190 N c -1.037 -1.090 0.998 0.366 0.707 0.730 0 -9.95 0.004 -0.766 0.048 0.082 0.190 0.020 0.195 0.999 0.750 5.910 0.181 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain . . 0.0075 0.0028 0.0037 0.0009 0 0.0020 0.0133 0.0082 0.0028 0.0077 0.0038 0.0024 0 0 0.0017 0.0131 0 het 1806.04 129 10 12595329 . A G 1806.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.059;DP=129;Dels=0.00;FS=0.802;HRun=1;HaplotypeScore=0.7887;MQ=59.86;MQ0=0;MQRankSum=0.233;QD=14.00;ReadPosRankSum=-0.643;VQSLOD=6.3109;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,64:129:99:1836,0,1847 10 12867598 12867598 C G exonic CAMK1D synonymous SNV CAMK1D:NM_020397:exon10:c.C948G:p.V316V,CAMK1D:NM_153498:exon10:c.C948G:p.V316V,CAMK1D:NM_001351032:exon12:c.C657G:p.V219V 0.77 0.7 0.72 0.85 0.76 0.84 0.7570 0.7041 0.7086 0.8426 0.7382 0.7531 0.7434 0.8037 0.74 0.71 0.75 0.75 0.66 rs1757051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7574 0.7004 0.7233 0.7889 0.8437 0.7445 0.7509 0.7313 0.8029 0.7320 0.6987 0.7160 0.7649 0.8319 0.7603 0.7341 0.7342 hom 8311.16 250 10 12867598 . C G 8311.16 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1044;MQ=59.18;MQ0=0;QD=33.24;VQSLOD=6.8960;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8311,641,0 10 12940455 12940455 A G exonic CCDC3 synonymous SNV CCDC3:NM_031455:exon3:c.T774C:p.N258N,CCDC3:NM_001282658:exon7:c.T399C:p.N133N 0.99 0.97 1. 1. 1. 1. 0.9979 0.9756 0.9987 1 1 0.9998 1 0.9999 0.99 0.97 1. 0.97 0.66 rs10906249 COSM4144471 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9982 0.9751 0.9982 1 1 1 0.9999 0.9994 0.9999 0.9932 0.9767 0.9964 1 1 1 0.9999 0.9990 hom 1904.59 63 10 12940455 . A G 1904.59 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8930;MQ=59.63;MQ0=0;QD=30.23;VQSLOD=8.3063;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1938,177,0 10 13151224 13151224 G A exonic OPTN synonymous SNV OPTN:NM_021980:exon2:c.G102A:p.T34T,OPTN:NM_001008212:exon3:c.G102A:p.T34T,OPTN:NM_001008211:exon4:c.G102A:p.T34T,OPTN:NM_001008213:exon4:c.G102A:p.T34T 0.18 0.014 0.23 0.19 0.27 0.26 0.2385 0.0473 0.2798 0.1973 0.1881 0.2754 0.2118 0.2237 0.2 0.059 0.27 0.12 0.16 rs2234968 COSM146881 1(stomach);1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Primary_open_angle_glaucoma|Amyotrophic_Lateral_Sclerosis\x2c_Recessive RCV000082082.5|RCV000276775.1|RCV000313201.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C0339573:137760:77075001|CN239196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2423 0.0465 0.2827 0.3290 0.2001 0.1794 0.2735 0.2564 0.2218 0.1903 0.0552 0.3079 0.3344 0.2079 0.1837 0.2560 0.2372 het 1627.05 153 10 13151224 . G A 1627.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.504;DP=153;Dels=0.00;FS=2.951;HRun=0;HaplotypeScore=3.8928;MQ=58.31;MQ0=0;MQRankSum=1.559;QD=10.63;ReadPosRankSum=-0.827;VQSLOD=5.1853;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,67:153:99:1657,0,2288 10 13166076 13166076 A G exonic OPTN nonsynonymous SNV OPTN:NM_021980:exon8:c.A964G:p.K322E,OPTN:NM_001008212:exon9:c.A964G:p.K322E,OPTN:NM_001008211:exon10:c.A964G:p.K322E,OPTN:NM_001008213:exon10:c.A964G:p.K322E 0.99 0.98 1. 1. 1. 1. 0.9973 0.9776 0.9990 1 1 0.9989 0.9978 0.9996 0.99 0.97 1. 1. 0.91 rs523747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9976 0.9778 0.9987 0.9877 1 1.0000 0.9994 0.9980 0.9994 0.9932 0.9774 0.9988 0.9834 1 0.9997 0.9997 0.9969 hom 1806.69 61 10 13166076 . A G 1806.69 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.62;VQSLOD=13.5009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1840,144,0 10 13239651 13239651 A G exonic MCM10 nonsynonymous SNV MCM10:NM_018518:exon15:c.A2003G:p.K668R,MCM10:NM_182751:exon15:c.A2006G:p.K669R 0.11 0.013 0.13 0.1 0.19 0.14 0.1418 0.0348 0.0816 0.0902 0.1171 0.1815 0.1291 0.1285 0.14 0.039 0.19 0.087 0.11 rs2274110 COSM4381438;COSM146882 1(stomach);1(large_intestine) . . . . . . . . . . . 0.046 0.408 D 0.98 0.574 D 0.824 0.589 P 0.000 0.843 D 0.000 0.588 P 2.83 0.826 M 2.2 0.187 T -1.54 0.373 N 0.152 0.181 -1.141 0.013 T 0.000 0.001 T . . . 4.909 0.660 25.0 0.999 0.966 0.984 0.828 D c 0.627 0.636 0.897 0.260 0.732 0.924 0 5.33 0.756 7.102 0.765 1.199 0.960 1.000 0.715 1.000 0.888 15.624 0.765 Replication factor Mcm10\x2c C-terminal . . 0.1411 0.0314 0.0952 0.1796 0.0911 0.1146 0.1825 0.1545 0.1280 0.1158 0.0338 0.0931 0.1722 0.0784 0.1224 0.1660 0.1171 het 545.21 45 10 13239651 . A G 545.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.658;DP=45;Dels=0.00;FS=1.184;HRun=0;HaplotypeScore=0.9973;MQ=57.90;MQ0=0;MQRankSum=0.987;QD=12.12;ReadPosRankSum=-0.587;VQSLOD=5.2934;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:575,0,688 10 13275553 13275553 T G exonic UCMA synonymous SNV UCMA:NM_145314:exon3:c.A205C:p.R69R 0.8 0.72 0.92 0.84 0.89 0.71 0.8711 0.7673 0.9314 0.8193 0.8899 0.9089 0.8612 0.7611 0.86 0.77 0.91 0.72 0.84 rs3829925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8758 0.7643 0.9248 0.8767 0.8228 0.8943 0.9116 0.8897 0.7615 0.8703 0.7770 0.9211 0.8576 0.8107 0.8997 0.9202 0.8908 hom 4849.52 172 10 13275553 . T G 4849.52 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=59.16;MQ0=0;QD=28.19;VQSLOD=8.5242;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:4849,379,0 10 13337588 13337588 G A exonic PHYH synonymous SNV PHYH:NM_001323082:exon3:c.C153T:p.N51N,PHYH:NM_001323083:exon3:c.C153T:p.N51N,PHYH:NM_006214:exon3:c.C153T:p.N51N 0.97 0.9 0.99 1. 1. 1. 0.9908 0.9013 0.9965 1 1 0.9995 0.9967 0.9988 0.97 0.9 1. 0.95 0.92 rs1747682 . . other|Benign not_specified|Phytanic_acid_storage_disease RCV000117910.7|RCV000294027.1 MedGen|Gene:MedGen:OMIM:Orphanet:SNOMED_CT CN169374|8024:C0034960:266500:ORPHA773:25362006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9926 0.8991 0.9961 0.9956 1 1 0.9996 0.9956 0.9990 0.9713 0.9000 0.9952 0.9967 1 1 0.9997 0.9919 hom 2624.89 87 10 13337588 . G A 2624.89 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.45;MQ0=0;QD=30.17;VQSLOD=8.9830;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2658,211,0 10 13364914 13364914 C G exonic SEPHS1 synonymous SNV SEPHS1:NM_001195602:exon7:c.G684C:p.V228V,SEPHS1:NM_012247:exon8:c.G885C:p.V295V 0.056 0.042 0.066 0.076 0.044 0.058 0.0473 0.0395 0.0878 0.0763 0.0276 0.0378 0.0478 0.0545 0.038 0.04 0.037 0.054 . rs62641685 COSM146883;COSM3675690 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0481 0.0380 0.0835 0.0462 0.0770 0.0259 0.0377 0.0400 0.0537 0.0426 0.0320 0.0813 0.0430 0.0901 0.0283 0.0452 0.0367 het 1348.45 103 10 13364914 . C G 1348.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.290;DP=103;Dels=0.00;FS=4.802;HRun=1;HaplotypeScore=3.6187;MQ=58.78;MQ0=0;MQRankSum=-0.650;QD=13.09;ReadPosRankSum=-0.267;VQSLOD=4.4765;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,53:103:99:1378,0,1346 10 13375906 13375906 T C exonic SEPHS1 synonymous SNV SEPHS1:NM_001195602:exon4:c.A270G:p.T90T,SEPHS1:NM_001195604:exon5:c.A471G:p.T157T,SEPHS1:NM_012247:exon5:c.A471G:p.T157T 0.68 0.7 0.74 0.76 0.55 0.65 0.6328 0.7082 0.7749 0.7977 0.5964 0.5799 0.6049 0.6290 0.62 0.7 0.58 0.67 0.66 rs10752297 COSM3751625;COSM3751626 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6373 0.7050 0.7662 0.5829 0.7975 0.5978 0.5825 0.6088 0.6234 0.6354 0.7012 0.7141 0.5993 0.7939 0.6094 0.5834 0.6214 hom 3033.39 106 10 13375906 . T C 3033.39 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.43;MQ0=0;QD=28.62;VQSLOD=7.9224;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3066,241,0 10 13481427 13481427 T A exonic BEND7 synonymous SNV BEND7:NM_152751:exon9:c.A1152T:p.S384S 0.33 0.026 0.34 0.67 0.36 0.38 0.3728 0.0698 0.4378 0.7069 0.5453 0.3464 0.3888 0.3792 0.25 0.08 0.34 0.29 0.29 rs12415754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3839 0.0673 0.4250 0.3109 0.7049 0.5465 0.3404 0.3773 0.3817 0.3215 0.0726 0.4177 0.3146 0.6837 0.5407 0.3651 0.4179 hom 2384.69 75 10 13481427 . T A 2384.69 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.686;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=59.50;MQ0=0;MQRankSum=-1.178;QD=31.80;ReadPosRankSum=-0.162;VQSLOD=8.3768;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,74:75:99:2418,189,0 10 13494594 13494594 T C exonic BEND7 synonymous SNV BEND7:NM_001100912:exon6:c.A1011G:p.V337V,BEND7:NM_152751:exon7:c.A972G:p.V324V 0.36 0.12 0.35 0.67 0.34 0.37 0.3730 0.1533 0.4360 0.7084 0.5239 0.3373 0.3789 0.3750 0.27 0.16 0.33 0.33 0.27 rs2277222 COSM5425647;COSM5425648;COSM5425649 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3824 0.1495 0.4247 0.3079 0.7062 0.5264 0.3313 0.3746 0.3773 0.3364 0.1524 0.4141 0.3146 0.6887 0.5255 0.3536 0.3988 hom 5371.99 172 10 13494594 . T C 5371.99 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9259;MQ=59.72;MQ0=0;QD=31.23;VQSLOD=7.4645;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,171:172:99:5371,406,0 10 13782517 13782517 G A exonic FRMD4A synonymous SNV FRMD4A:NM_001318336:exon9:c.C657T:p.I219I,FRMD4A:NM_001318337:exon9:c.C708T:p.I236I,FRMD4A:NM_018027:exon10:c.C609T:p.I203I 0.0034 . 0.0014 . 0.016 . 0.0130 0.0016 0.0018 0 0.0513 0.0175 0.0209 0.0005 0.011 0.0009 0.016 . 0.0082 rs10508466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0125 0.0021 0.0026 0.0016 0 0.0474 0.0159 0.0118 0.0009 0.0149 0.0030 0.0036 0.0066 0 0.0431 0.0177 0.0155 het 1701.14 140 10 13782517 . G A 1701.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.202;DP=140;Dels=0.00;FS=0.657;HRun=1;HaplotypeScore=4.4422;MQ=59.70;MQ0=0;MQRankSum=0.385;QD=12.15;ReadPosRankSum=-0.870;VQSLOD=4.9978;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,70:140:99:1731,0,1772 10 14909255 14909255 T C exonic HSPA14 synonymous SNV HSPA14:NM_016299:exon11:c.T1167C:p.S389S 0.0036 0.0008 0.0072 . 0.005 0.0072 0.0042 0.0006 0.0067 0 0 0.0045 0.0066 0.0075 0.0032 0.0009 0.0043 . . rs61751214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0043 0.0007 0.0066 0.0056 0 4.486e-05 0.0044 0.0071 0.0075 0.0023 0.0008 0.0084 0 0 0 0.0037 0.0020 het 1039.75 89 10 14909255 . T C 1039.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DP=89;Dels=0.00;FS=0.813;HRun=1;HaplotypeScore=4.5713;MQ=58.99;MQ0=0;MQRankSum=-1.219;QD=11.68;ReadPosRankSum=1.038;VQSLOD=4.4585;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,45:89:99:1070,0,1165 10 15008493 15008493 A C exonic MEIG1 nonsynonymous SNV MEIG1:NM_001080836:exon2:c.A26C:p.K9T 0.61 0.54 0.73 0.48 0.67 0.69 0.6597 0.5695 0.7377 0.4769 0.6298 0.6818 0.6704 0.6795 0.65 0.58 0.69 0.56 0.52 rs4750568 . . . . . . . . . . . . . 0.298 0.146 T 0.99 0.615 D 0.709 0.526 P 0.000 0.843 D 0.000 0.487 P . . . 0.7 0.515 T -2.91 0.609 D 0.165 0.412 -0.971 0.369 T 0.000 0.000 T . . . 1.565 0.250 13.66 0.998 0.853 0.933 0.577 D c 0.489 0.522 0.997 0.351 0.554 0.246 0 5.68 0.880 5.867 0.691 1.197 0.919 1.000 0.715 1.000 0.888 15.595 0.762 . . . 0.6570 0.5735 0.7228 0.6097 0.4782 0.6306 0.6817 0.6559 0.6740 0.6322 0.5814 0.7345 0.6026 0.4558 0.6289 0.6731 0.6810 hom 1899.05 62 10 15008493 . A C 1899.05 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=30.63;VQSLOD=9.5461;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:62:99:1932,147,0 10 15106441 15106441 A G exonic OLAH synonymous SNV OLAH:NM_001039702:exon5:c.A342G:p.L114L,OLAH:NM_018324:exon6:c.A501G:p.L167L 0.47 0.42 0.34 0.57 0.42 0.6 0.4333 0.4107 0.2901 0.5993 0.3623 0.4192 0.4371 0.5456 0.42 0.41 0.42 0.47 0.33 rs10906818 COSM5654151 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4232 0.4138 0.2914 0.4476 0.5939 0.3705 0.4133 0.4236 0.5409 0.4093 0.4129 0.3397 0.5133 0.5696 0.3600 0.4031 0.4104 hom 3382.23 109 10 15106441 . A G 3382.23 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=31.03;VQSLOD=9.3749;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3382,253,0 10 15573050 15573050 A G exonic ITGA8 nonsynonymous SNV ITGA8:NM_001291494:exon27:c.T2936C:p.V979A,ITGA8:NM_003638:exon28:c.T2981C:p.V994A 0.91 0.88 0.98 0.76 1. 0.99 0.9724 0.8937 0.9947 0.7851 0.9998 0.9987 0.9868 0.9866 0.96 0.9 1. 0.98 0.97 rs1041135 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.039 0.242 N 1 0.090 P -1.095 0.010 N -0.25 0.670 T 0.39 0.035 N 0.014 0.062 -0.958 0.396 T 0.000 0.000 T . . . 0.816 0.172 9.563 0.461 0.036 0.010 0.037 N c -0.756 -0.531 0.000 0.042 0.516 0.203 0 4.73 0.593 3.046 0.493 0.131 0.216 0.998 0.411 0.984 0.507 7.744 0.279 Integrin domain . . 0.9743 0.8880 0.9939 0.9871 0.7748 0.9999 0.9994 0.9880 0.9859 0.9581 0.8982 0.9940 0.9868 0.7605 1 0.9996 0.9919 hom 4310.96 139 10 15573050 . A G 4310.96 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;QD=31.01;VQSLOD=9.5724;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4311,319,0 10 16547058 16547058 A G exonic PTER synonymous SNV PTER:NM_001261838:exon3:c.A291G:p.Q97Q,PTER:NM_001261836:exon4:c.A738G:p.Q246Q,PTER:NM_001001484:exon5:c.A738G:p.Q246Q,PTER:NM_030664:exon5:c.A738G:p.Q246Q 0.66 0.64 0.58 0.83 0.48 0.74 0.5558 0.6057 0.5881 0.8419 0.4753 0.4665 0.5760 0.7440 0.51 0.59 0.46 0.64 0.61 rs7904014 COSM3751668 1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5585 0.6058 0.5890 0.5342 0.8452 0.4828 0.4672 0.5482 0.7367 0.5358 0.5944 0.5837 0.5861 0.8368 0.4791 0.4788 0.5327 hom 4072.53 125 10 16547058 . A G 4072.53 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=32.58;VQSLOD=8.7429;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:4072,310,0 10 16918972 16918972 A G exonic CUBN synonymous SNV CUBN:NM_001081:exon57:c.T9030C:p.A3010A 0.25 0.35 0.29 0.31 0.086 0.18 0.1528 0.3268 0.4120 0.3008 0.1249 0.0649 0.1410 0.1507 0.15 0.33 0.057 0.28 0.041 rs1801241 COSM146895 1(stomach);4(soft_tissue) Benign Megaloblastic_anemia RCV000274874.1 Human_Phenotype_Ontology:MedGen HP:0001889:C0002888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1598 0.3288 0.3936 0.0736 0.3074 0.1330 0.0612 0.1367 0.1472 0.1686 0.3269 0.3413 0.0662 0.3222 0.1245 0.0660 0.1184 het 1785.55 142 10 16918972 . A G 1785.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.507;DP=142;Dels=0.00;FS=4.019;HRun=1;HaplotypeScore=1.9726;MQ=58.14;MQ0=0;MQRankSum=0.949;QD=12.57;ReadPosRankSum=-1.063;VQSLOD=5.2100;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,72:142:99:1816,0,1718 10 16943371 16943371 G C exonic CUBN nonsynonymous SNV CUBN:NM_001081:exon52:c.C8150G:p.S2717W 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1 1 1 1. 1. 1. 1. 1. rs2796835 . . Benign Megaloblastic_anemia RCV000383109.1 Human_Phenotype_Ontology:MedGen HP:0001889:C0002888 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.422 N 0.010 0.411 P -3.76 0.000 N 3.05 0.087 T 13.57 0.000 N 0.096 0.097 -0.903 0.477 T 0.000 0.000 T . . . 2.526 0.365 19.63 0.821 0.135 0.000 0.002 N c -0.978 -0.579 1.000 0.747 0.554 0.283 0 5.72 0.893 5.089 0.641 0.064 0.169 1.000 0.715 0.054 0.167 17.314 0.870 CUB domain . . 1.0000 0.9999 1 1 1 1 1 1 1 1.0000 0.9999 1 1 1 1 1 1 hom 5372.27 167 10 16943371 . G C 5372.27 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4672;MQ=59.45;MQ0=0;QD=32.17;VQSLOD=9.1456;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5372,412,0 10 16948390 16948390 G C exonic CUBN nonsynonymous SNV CUBN:NM_001081:exon50:c.C7724G:p.P2575R 0.068 0.0045 0.063 0.14 0.022 0.13 0.0421 0.0069 0.1004 0.1326 0.0098 0.0158 0.0264 0.0958 0.012 0.007 0.015 0.087 . rs3740168 COSM3997869 1(haematopoietic_and_lymphoid_tissue);2(soft_tissue) Likely benign Megaloblastic_anemia RCV000293950.1 Human_Phenotype_Ontology:MedGen HP:0001889:C0002888 . . . . . . 0.204 0.200 T 0.137 0.258 B 0.097 0.288 B 0.591 0.110 N 1 0.090 P -1.01 0.011 N 2.28 0.173 T 0.26 0.044 N 0.054 0.036 -0.962 0.387 T 0.000 0.000 T . . . -0.520 0.054 0.196 0.487 0.040 0.320 0.243 N c -1.015 -0.922 0.958 0.283 0.554 0.283 0 4.64 0.572 1.814 0.384 0.129 0.215 0.008 0.178 0.004 0.083 8.219 0.305 CUB domain . . 0.0445 0.0065 0.0971 0.0152 0.1351 0.0105 0.0160 0.0365 0.0934 0.0212 0.0054 0.0851 0.0166 0.1510 0.0100 0.0149 0.0305 het 1001.54 70 10 16948390 . G C 1001.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.489;DP=70;Dels=0.00;FS=2.147;HRun=0;HaplotypeScore=4.0741;MQ=58.11;MQ0=0;MQRankSum=2.534;QD=14.31;ReadPosRankSum=0.303;VQSLOD=3.7433;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,40:70:99:1032,0,841 10 16967401 16967401 C T exonic CUBN nonsynonymous SNV CUBN:NM_001081:exon43:c.G6485A:p.C2162Y 0.99 1. 0.95 1. 1. 1. 0.9958 0.9994 0.9574 0.9994 1 0.9999 0.9967 1 1. 1. 1. 1. 1. rs1276712 . . Benign Megaloblastic_anemia RCV000352065.1 Human_Phenotype_Ontology:MedGen HP:0001889:C0002888 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.555 0.054 N 1 0.090 P -0.375 0.030 N 2.29 0.171 T 2.17 0.003 N 0.037 0.017 -0.930 0.442 T 0.000 0.000 T . . . -0.994 0.032 0.016 0.197 0.007 0.020 0.059 N c -1.740 -1.696 0.377 0.199 0.554 0.246 0 -6.18 0.019 0.122 0.154 -0.218 0.098 0.001 0.137 0.574 0.284 14.721 0.688 CUB domain . . 0.9943 0.9992 0.9596 1 0.9994 1 1.0000 0.9945 1 0.9986 0.9990 0.9594 1 1 1 1 0.9990 hom 1852.82 63 10 16967401 . C T 1852.82 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=56.65;MQ0=0;QD=29.41;VQSLOD=6.3783;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1886,153,0 10 17024503 17024503 G A exonic CUBN nonsynonymous SNV CUBN:NM_001081:exon31:c.C4675T:p.P1559S 0.61 0.35 0.63 0.56 0.87 0.76 0.7729 0.4486 0.5297 0.5399 0.8477 0.8835 0.8172 0.7900 0.75 0.47 0.89 0.56 0.86 rs1801231 COSM5764883 1(large_intestine) Benign Megaloblastic_anemia RCV000282079.1 Human_Phenotype_Ontology:MedGen HP:0001889:C0002888 . . . . . . 0.916 0.027 T 0.075 0.227 B 0.046 0.233 B 0.090 0.204 N 0.999 0.214 P -0.14 0.045 N 2.37 0.160 T 0.33 0.142 N 0.048 0.029 -0.999 0.303 T 0.000 0.000 T . . . 0.979 0.188 10.54 0.980 0.366 0.548 0.295 D c -0.624 -0.478 0.628 0.219 0.554 0.283 0 1.09 0.194 0.241 0.177 0.045 0.158 0.480 0.266 0.980 0.490 1.404 0.021 CUB domain . . 0.7715 0.4439 0.5570 0.8268 0.5381 0.8498 0.8893 0.7974 0.7927 0.7347 0.4608 0.6211 0.8033 0.5342 0.8545 0.8854 0.8371 hom 2524.03 83 10 17024503 . G A 2524.03 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.45;MQ0=0;QD=30.05;VQSLOD=8.6792;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2557,205,0 10 17024615 17024615 A T exonic CUBN synonymous SNV CUBN:NM_001081:exon31:c.T4563A:p.I1521I 0.61 0.35 0.63 0.56 0.87 0.76 0.7732 0.4492 0.5307 0.5403 0.8477 0.8835 0.8183 0.7904 0.75 0.47 0.89 0.58 0.72 rs1801229 . . Benign Megaloblastic_anemia RCV000348707.1 Human_Phenotype_Ontology:MedGen HP:0001889:C0002888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7715 0.4440 0.5571 0.8267 0.5381 0.8499 0.8893 0.7979 0.7926 0.7350 0.4612 0.6193 0.8033 0.5400 0.8544 0.8855 0.8371 hom 2439.06 81 10 17024615 . A T 2439.06 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=30.11;VQSLOD=8.0084;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2472,202,0 10 17113563 17113563 C T exonic CUBN synonymous SNV CUBN:NM_001081:exon19:c.G2487A:p.S829S 0.36 0.055 0.48 0.54 0.4 0.44 0.4252 0.1050 0.5310 0.5500 0.3686 0.4352 0.4207 0.4675 0.34 0.11 0.45 0.32 0.35 rs1801225 . . Benign Megaloblastic_anemia RCV000393318.1 Human_Phenotype_Ontology:MedGen HP:0001889:C0002888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4372 0.1004 0.5296 0.4258 0.5496 0.3682 0.4451 0.4300 0.4667 0.3483 0.1034 0.5156 0.4167 0.5561 0.3679 0.4480 0.4276 hom 1735.32 60 10 17113563 . C T 1735.32 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.75;MQ0=0;QD=28.92;VQSLOD=8.3164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1768,138,0 10 17147521 17147521 G T exonic CUBN nonsynonymous SNV CUBN:NM_001081:exon11:c.C1165A:p.P389T 0.53 0.37 0.6 0.66 0.59 0.53 0.6138 0.4065 0.6358 0.6686 0.5828 0.6540 0.5496 0.5535 0.59 0.41 0.68 0.52 0.61 rs1801224 COSM3751676 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Megaloblastic_anemia RCV000399047.1 Human_Phenotype_Ontology:MedGen HP:0001889:C0002888 . . . . . . 0.029 0.457 D 0.666 0.391 P 0.212 0.357 B 0.413 0.130 N 0.939 0.268 P 1.62 0.416 L 1.02 0.407 T -5.25 0.840 D 0.034 0.014 -0.971 0.370 T 0.000 0.000 T . . . 3.981 0.535 23.6 0.988 0.464 0.928 0.563 D c -0.246 -0.242 0.748 0.233 0.487 0.133 0 1.37 0.211 3.120 0.499 -0.241 0.092 0.994 0.380 0.961 0.442 5.465 0.158 EGF-like domain . . 0.6178 0.4005 0.6385 0.5298 0.6702 0.5914 0.6656 0.5985 0.5509 0.5821 0.4070 0.6319 0.5364 0.6830 0.5867 0.6683 0.6085 hom 2935.79 96 10 17147521 . G T 2935.79 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.58;VQSLOD=13.7276;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2969,244,0 10 17156151 17156151 A G exonic CUBN nonsynonymous SNV CUBN:NM_001081:exon8:c.T758C:p.F253S 0.8 0.81 0.8 0.85 0.71 0.83 0.7278 0.8055 0.7974 0.8130 0.6969 0.6681 0.7933 0.8356 0.7 0.8 0.65 0.75 0.67 rs1801222 . . Benign Megaloblastic_anemia RCV000380325.1 Human_Phenotype_Ontology:MedGen HP:0001889:C0002888 Homocysteine levels . -0.05 23824729 rs1801222 8E-10 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.497 0.120 N 1 0.090 P -2.1 0.002 N -2.24 0.872 D 3.75 0.001 N 0.055 0.037 -0.951 0.409 T 0.000 0.000 T . . . -0.711 0.044 0.068 0.667 0.079 0.022 0.063 N c -1.286 -1.123 0.999 0.390 0.487 0.133 0 2.53 0.295 3.290 0.512 0.138 0.222 0.583 0.274 0.102 0.190 9.400 0.374 EGF-like domain|EGF-like\x2c conserved site|Growth factor receptor cysteine-rich domain . . 0.7291 0.8084 0.7996 0.7662 0.8059 0.6876 0.6608 0.7357 0.8333 0.7190 0.8042 0.7888 0.7649 0.8040 0.6979 0.6601 0.7235 hom 1348.07 46 10 17156151 . A G 1348.07 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;QD=29.31;VQSLOD=8.1571;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:46:99:1381,108,0 10 17636309 17636309 G A exonic HACD1 nonsynonymous SNV HACD1:NM_014241:exon6:c.C679T:p.H227Y 0.2 0.25 0.17 0.069 0.3 0.17 0.2319 0.2557 0.1138 0.0543 0.2481 0.2861 0.2185 0.1676 0.27 0.25 0.28 0.29 0.2 rs1053926 COSM3751680 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.210 P -1.32 0.007 N 1.6 0.286 T 2.51 0.002 N 0.079 0.071 -0.987 0.333 T 0.000 0.000 T . . . 0.483 0.140 7.300 0.334 0.020 0.426 0.267 N c -0.811 -0.552 0.006 0.110 0.615 0.372 0 5.72 0.893 3.799 0.550 0.225 0.256 0.997 0.399 0.482 0.268 9.278 0.367 . . . 0.2226 0.2469 0.1157 0.3237 0.0553 0.2444 0.2799 0.2290 0.1616 0.2461 0.2489 0.1475 0.3742 0.0501 0.2440 0.2699 0.2316 het 808.41 93 10 17636309 . G A 808.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.715;DP=93;Dels=0.00;FS=0.877;HRun=0;HaplotypeScore=1.3990;MQ=58.60;MQ0=0;MQRankSum=1.228;QD=8.69;ReadPosRankSum=-0.608;VQSLOD=5.7136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,37:93:99:838,0,1602 10 18242304 18242304 T C exonic SLC39A12 synonymous SNV SLC39A12:NM_001145195:exon2:c.T99C:p.D33D,SLC39A12:NM_001282733:exon2:c.T99C:p.D33D,SLC39A12:NM_152725:exon2:c.T99C:p.D33D 0.93 0.99 0.9 0.91 0.91 0.89 0.9060 0.9820 0.8598 0.9236 0.8840 0.9105 0.8822 0.8731 0.93 0.98 0.91 0.94 0.89 rs691112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9021 0.9854 0.8662 0.8728 0.9195 0.8865 0.9132 0.8886 0.8732 0.9275 0.9808 0.8612 0.8510 0.9090 0.8795 0.9173 0.8929 hom 4743.31 147 10 18242304 . T C 4743.31 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4905;MQ=58.99;MQ0=0;QD=32.27;VQSLOD=9.6381;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4743,379,0 10 18254606 18254606 C A exonic SLC39A12 synonymous SNV SLC39A12:NM_001282734:exon3:c.C336A:p.T112T,SLC39A12:NM_001145195:exon4:c.C738A:p.T246T,SLC39A12:NM_001282733:exon4:c.C738A:p.T246T,SLC39A12:NM_152725:exon4:c.C738A:p.T246T 0.33 0.24 0.4 0.39 0.36 0.31 0.3487 0.2552 0.4201 0.3718 0.3994 0.3476 0.3915 0.3275 0.31 0.26 0.34 0.33 0.23 rs691513 COSM3997880;COSM3997879 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3500 0.2512 0.4119 0.2695 0.3658 0.4005 0.3470 0.3332 0.3263 0.3322 0.2569 0.3935 0.2715 0.3443 0.4 0.3537 0.3788 het 566.26 44 10 18254606 . C A 566.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.859;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-2.204;QD=12.87;ReadPosRankSum=0.304;VQSLOD=5.2508;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,23:44:99:596,0,564 10 18266989 18266989 G A exonic SLC39A12 nonsynonymous SNV SLC39A12:NM_001282734:exon4:c.G508A:p.V170I,SLC39A12:NM_001145195:exon5:c.G910A:p.V304I,SLC39A12:NM_001282733:exon5:c.G910A:p.V304I,SLC39A12:NM_152725:exon5:c.G910A:p.V304I 0.66 0.62 0.69 0.66 0.63 0.74 0.6587 0.6212 0.6898 0.6740 0.6883 0.6358 0.6681 0.7328 0.63 0.63 0.63 0.67 0.65 rs2478568 . . . . . . . . . . . . . 0.237 0.179 T 0.0 0.026 B 0.001 0.040 B 0.000 0.002 N 1 0.090 P -0.85 0.015 N 0.1 0.614 T -0.16 0.100 N 0.063 0.048 -1.005 0.284 T 0.000 0.000 T . . . -2.001 0.008 0.001 0.405 0.028 0.006 0.025 N c -2.089 -2.179 1.000 0.428 0.487 0.133 0 -9.43 0.005 -3.022 0.007 -2.023 0.005 0.000 0.063 0.004 0.083 5.160 0.143 . ENSG00000183748.4|ENSG00000120586.4|ENSG00000120586.4|ENSG00000183748.4|ENSG00000120586.4|ENSG00000183748.4|ENSG00000183748.4|ENSG00000120586.4|ENSG00000120586.4|ENSG00000120586.4|ENSG00000120586.4|ENSG00000183748.4|ENSG00000183748.4|ENSG00000120586.4|ENSG00000120586.4|ENSG00000120586.4|ENSG00000183748.4|ENSG00000120586.4|ENSG00000183748.4|ENSG00000183748.4|ENSG00000120586.4|ENSG00000183748.4|ENSG00000120586.4|ENSG00000183748.4|ENSG00000120586.4|ENSG00000183748.4|ENSG00000120586.4|ENSG00000183748.4|ENSG00000120586.4|ENSG00000183748.4|ENSG00000120586.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid 0.6576 0.6230 0.6817 0.6024 0.6610 0.6906 0.6353 0.6480 0.7296 0.6462 0.6315 0.6730 0.5497 0.6596 0.6856 0.6435 0.6633 het 872.55 75 10 18266989 . G A 872.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.396;DP=75;Dels=0.00;FS=0.903;HRun=1;HaplotypeScore=1.8914;MQ=58.15;MQ0=0;MQRankSum=-0.313;QD=11.63;ReadPosRankSum=-0.079;VQSLOD=5.6476;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,37:75:99:903,0,960 10 18828371 18828371 C T exonic CACNB2 synonymous SNV CACNB2:NM_000724:exon13:c.C1536T:p.Y512Y,CACNB2:NM_001330060:exon13:c.C1422T:p.Y474Y,CACNB2:NM_201570:exon13:c.C1557T:p.Y519Y,CACNB2:NM_201590:exon13:c.C1539T:p.Y513Y,CACNB2:NM_001167945:exon14:c.C1503T:p.Y501Y,CACNB2:NM_201571:exon14:c.C1617T:p.Y539Y,CACNB2:NM_201572:exon14:c.C1545T:p.Y515Y,CACNB2:NM_201593:exon14:c.C1587T:p.Y529Y,CACNB2:NM_201596:exon14:c.C1701T:p.Y567Y,CACNB2:NM_201597:exon14:c.C1629T:p.Y543Y 0.24 0.19 0.33 0.24 0.16 0.31 0.2129 0.1977 0.4110 0.2378 0.1931 0.1593 0.2185 0.2946 0.18 0.21 0.16 0.2 0.17 rs2228645 COSM146899 1(stomach) Benign|Benign|Likely benign Cardiovascular_phenotype|not_specified|Brugada_syndrome RCV000250713.1|RCV000253602.1|RCV000272242.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN230736|CN169374|C1142166:ORPHA130:418818005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2196 0.1953 0.3883 0.1623 0.2304 0.1985 0.1600 0.2022 0.2945 0.1901 0.1985 0.3206 0.1589 0.2151 0.1769 0.1784 0.1975 het 1206.65 91 10 18828371 . C T 1206.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.848;DP=91;Dels=0.00;FS=5.394;HRun=0;HaplotypeScore=2.4875;MQ=59.24;MQ0=0;MQRankSum=-1.525;QD=13.26;ReadPosRankSum=1.154;VQSLOD=4.8108;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,45:91:99:1237,0,1107 10 18828486 18828486 C G exonic CACNB2 nonsynonymous SNV CACNB2:NM_000724:exon13:c.C1651G:p.R551G,CACNB2:NM_001330060:exon13:c.C1537G:p.R513G,CACNB2:NM_201570:exon13:c.C1672G:p.R558G,CACNB2:NM_201590:exon13:c.C1654G:p.R552G,CACNB2:NM_001167945:exon14:c.C1618G:p.R540G,CACNB2:NM_201571:exon14:c.C1732G:p.R578G,CACNB2:NM_201572:exon14:c.C1660G:p.R554G,CACNB2:NM_201593:exon14:c.C1702G:p.R568G,CACNB2:NM_201596:exon14:c.C1816G:p.R606G,CACNB2:NM_201597:exon14:c.C1744G:p.R582G 0.0044 0.0008 0.01 . 0.014 . 0.0092 0.0032 0.0041 0 0.0047 0.0145 0.0044 0.0018 0.013 0.0041 0.017 . . rs61733968 . . Benign|Benign|Uncertain significance\x2cUncertain significance|Uncertain significance not_specified|Brugada_syndrome_4|Brugada_syndrome\x2cnot_provided|not_specified RCV000171804.2|RCV000234242.2|RCV000333626.1\x2cRCV000170881.3|RCV000185503.1 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT\x2cMedGen|MedGen CN169374|C2678477:611876|C1142166:ORPHA130:418818005\x2cCN221809|CN169374 . . . . . . 0.004 0.654 D 0.253 0.764 B 0.097 0.692 B 0.001 0.413 D 1.000 0.588 D 2.295 0.656 M -1.66 0.828 D -0.92 0.346 N 0.433 0.488 0.105 0.843 D 0.473 0.798 T . . . 4.555 0.610 24.4 0.999 0.930 0.985 0.832 D c 0.471 0.540 0.045 0.146 0.707 0.730 0 5.91 0.952 5.051 0.638 0.935 0.490 1.000 0.715 0.978 0.483 15.647 0.767 . . . 0.0091 0.0024 0.0052 0.0026 0 0.0047 0.0160 0.0104 0.0019 0.0099 0.0032 0.0036 0.0033 0 0.0054 0.0161 0.0133 het 1648.39 121 10 18828486 . C G 1648.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.396;DP=121;Dels=0.00;FS=0.705;HRun=2;HaplotypeScore=2.7554;MQ=59.62;MQ0=0;MQRankSum=1.059;QD=13.62;ReadPosRankSum=1.412;VQSLOD=5.4675;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,66:121:99:1678,0,1390 10 20506418 20506418 G A exonic PLXDC2 nonsynonymous SNV PLXDC2:NM_001282736:exon10:c.G1039A:p.V347I,PLXDC2:NM_032812:exon11:c.G1186A:p.V396I 0.57 0.71 0.45 0.31 0.7 0.58 0.6158 0.7032 0.3707 0.2928 0.6131 0.6823 0.6567 0.6291 0.69 0.69 0.69 0.64 0.65 rs3817405 COSM3751681 1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.438 0.096 T 0.003 0.102 B 0.002 0.063 B 0.194 0.033 N 1 0.090 P 1.5 0.380 L -1.0 0.760 T -0.21 0.103 N 0.026 0.008 -1.011 0.266 T 0.000 0.000 T . . . -1.267 0.023 0.005 0.555 0.053 0.006 0.026 N c -1.745 -1.885 1.000 0.747 0.706 0.609 0 -11.1 0.001 -1.541 0.023 -3.115 0.001 0.000 0.063 0.000 0.016 4.875 0.129 . . . 0.6037 0.6990 0.3874 0.7518 0.2876 0.6162 0.6782 0.6502 0.6330 0.6415 0.7021 0.4601 0.7252 0.2801 0.6062 0.6641 0.6012 het 1543.70 125 10 20506418 . G A 1543.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.076;DP=125;Dels=0.00;FS=2.345;HRun=0;HaplotypeScore=0.8321;MQ=58.05;MQ0=1;MQRankSum=-0.357;QD=12.35;ReadPosRankSum=1.087;VQSLOD=5.1743;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,62:125:99:1574,0,1439 10 20534333 20534333 A G exonic PLXDC2 nonsynonymous SNV PLXDC2:NM_001282736:exon12:c.A1225G:p.I409V,PLXDC2:NM_032812:exon13:c.A1372G:p.I458V 0.78 0.93 0.68 0.55 0.89 0.79 0.8368 0.9188 0.6101 0.5535 0.8346 0.9019 0.8789 0.8276 0.91 0.92 0.9 0.83 0.9 rs2778979 COSM5425937 2(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.212 P -0.695 0.019 N 2.15 0.193 T 0.08 0.060 N 0.154 0.184 -0.957 0.398 T 0.000 0.000 T . . . 0.223 0.115 4.915 0.462 0.036 0.225 0.216 N c -0.802 -0.528 0.655 0.222 0.706 0.609 0 5.0 0.661 2.365 0.436 -0.223 0.096 0.995 0.385 0.971 0.463 9.817 0.398 . . . 0.8271 0.9176 0.6399 0.9287 0.5550 0.8278 0.9025 0.8434 0.8290 0.8721 0.9172 0.6945 0.9371 0.5669 0.8324 0.8977 0.8548 hom 5831.05 189 10 20534333 . A G 5831.05 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5285;MQ=59.68;MQ0=0;QD=30.85;VQSLOD=5.6682;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:5830,511,0 10 21414892 21414892 C G exonic C10orf113 nonsynonymous SNV C10orf113:NM_001010896:exon2:c.G328C:p.D110H 0.54 0.67 0.38 0.71 0.32 0.55 0.4045 0.6144 0.3324 0.7197 0.2742 0.3257 0.3874 0.5299 0.43 0.6 0.34 0.55 0.3 rs625223 COSM3751684;COSM3751685;COSM3751683 1(breast);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.139 0.257 T 0.09 0.236 B 0.031 0.206 B . . . 1.000 0.335 P 0 0.065 N 1.01 0.411 T -4.18 0.755 D 0.097 0.098 -0.988 0.331 T 0.000 0.000 T . . . 3.656 0.497 23.2 0.975 0.340 0.605 0.310 D c -0.459 -0.316 0.013 0.125 0.554 0.246 0 2.6 0.300 0.717 0.253 0.892 0.403 0.968 0.339 0.999 0.750 10.968 0.464 . . . 0.3959 0.6244 0.3316 0.3914 0.7204 0.2677 0.3255 0.3652 0.5255 0.4234 0.6171 0.3285 0.3742 0.7268 0.2701 0.3240 0.3591 het 1637.13 107 10 21414892 . C G 1637.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.480;DP=107;Dels=0.00;FS=4.804;HRun=0;HaplotypeScore=1.8930;MQ=59.35;MQ0=0;MQRankSum=-0.053;QD=15.30;ReadPosRankSum=-0.514;VQSLOD=6.0043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,55:107:99:1667,0,1389 10 21415006 21415006 T C exonic C10orf113 nonsynonymous SNV C10orf113:NM_001010896:exon2:c.A214G:p.R72G 0.15 0.0061 0.11 0.31 0.13 0.22 0.1521 0.0253 0.1033 0.3060 0.1340 0.1471 0.1681 0.2082 0.1 0.025 0.14 0.18 0.11 rs11591355 COSM3997895;COSM3997893;COSM3997894 2(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . 0.101 0.303 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0 0.065 N 1.07 0.396 T 0.5 0.030 N 0.028 0.009 -0.981 0.348 T 0.000 0.000 T . . . 0.056 0.099 3.146 0.935 0.227 0.088 0.145 N c -1.097 -1.067 0.005 0.109 0.554 0.246 0 -1.21 0.090 0.490 0.220 -0.754 0.034 0.656 0.280 0.016 0.126 2.362 0.040 . . . 0.1522 0.0231 0.1009 0.2306 0.3143 0.1340 0.1417 0.1589 0.2062 0.1163 0.0284 0.0981 0.2285 0.3129 0.1357 0.1382 0.1516 het 2070.63 185 10 21415006 . T C 2070.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.779;DP=185;Dels=0.00;FS=0.546;HRun=2;HaplotypeScore=1.8910;MQ=59.14;MQ0=0;MQRankSum=0.961;QD=11.19;ReadPosRankSum=0.944;VQSLOD=6.3347;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:98,86:185:99:2101,0,2548 10 21435341 21435344 CACT - exonic C10orf113 frameshift deletion C10orf113:NM_001010896:exon1:c.94_97del:p.S32Ffs*4,C10orf113:NM_001177483:exon1:c.94_97del:p.S32Ffs*4 0.25 0.23 0.17 0.36 0.19 0.29 0.2139 0.2170 0.1369 0.3449 0.2404 0.1918 0.2423 0.2747 0.19 0.21 0.18 . . rs72102767 COSM4998888;COSM4998886;COSM4998887 7(pancreas);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2109 0.2212 0.1335 0.2724 0.3543 0.2347 0.1841 0.2211 0.2690 0.2136 0.2255 0.1432 0.27 0.3488 0.2335 0.1889 0.2352 het 3533.17 152 10 21435340 . ACACT A 3533.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.753;DP=152;FS=4.886;HRun=0;HaplotypeScore=711.1509;MQ=56.10;MQ0=0;MQRankSum=-3.269;QD=23.24;ReadPosRankSum=0.507;set=variant2 GT:AD:DP:GQ:PL 0/1:80,72:152:99:3533,0,5448 10 22019855 22019855 G A exonic MLLT10 nonsynonymous SNV MLLT10:NM_001195626:exon16:c.G2090A:p.R697H,MLLT10:NM_004641:exon18:c.G2138A:p.R713H,MLLT10:NM_001324297:exon19:c.G1355A:p.R452H 0.0002 . 0.0014 . . . 0.0026 0.0002 8.637e-05 0.0001 0.0015 0.0045 0.0011 0 0.0024 . 0.0036 . . rs142554860 . . . . . . . . . . . . . 0.106 0.437 T 0.257 0.297 B 0.039 0.223 B 0.000 0.629 D 1 0.810 D 1.6 0.409 L -3.61 0.950 D -1.23 0.395 N 0.712 0.836 0.343 0.882 D 0.739 0.911 D 0.087 0.750 D 3.781 0.511 23.4 0.993 0.577 0.986 0.840 D c 0.190 0.363 1.000 0.747 0.707 0.730 0 5.63 0.861 7.200 0.772 1.048 0.713 1.000 0.715 1.000 0.888 13.918 0.633 . . . 0.0020 0.0003 0.0003 0.0023 5.798e-05 0.0014 0.0038 0.0013 0 0.0027 0.0003 0 0 0 0.0003 0.0052 0.0010 het 1901.24 143 10 22019855 . G A 1901.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.929;DP=143;Dels=0.00;FS=3.407;HRun=0;HaplotypeScore=1.9623;MQ=59.27;MQ0=0;MQRankSum=-0.495;QD=13.30;ReadPosRankSum=-0.212;VQSLOD=4.7451;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,74:143:99:1931,0,1763 10 23297301 23297301 C T exonic ARMC3 synonymous SNV ARMC3:NM_001282747:exon12:c.C1137T:p.N379N,ARMC3:NM_001282745:exon15:c.C1926T:p.N642N,ARMC3:NM_001282746:exon15:c.C1926T:p.N642N,ARMC3:NM_173081:exon15:c.C1926T:p.N642N 0.5 0.3 0.56 0.55 0.62 0.56 0.5771 0.3622 0.5337 0.5586 0.7148 0.6270 0.6238 0.5579 0.52 0.34 0.61 0.5 0.12 rs11817610 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5709 0.3158 0.5020 0.5821 0.5364 0.6950 0.6103 0.5911 0.5502 0.5424 0.3190 0.5167 0.5795 0.5471 0.6899 0.6336 0.6107 hom 773.97 27 10 23297301 . C T 773.97 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.67;VQSLOD=13.3188;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:63.20:807,63,0 10 23408278 23408278 C T exonic MSRB2 synonymous SNV MSRB2:NM_012228:exon4:c.C342T:p.S114S 0.23 0.23 0.16 0.12 0.33 0.27 0.2864 0.2455 0.1656 0.1418 0.3147 0.3318 0.2889 0.2758 0.31 0.23 0.35 0.24 0.33 rs7427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2849 0.2429 0.1728 0.3192 0.1439 0.3233 0.3384 0.2932 0.2727 0.2954 0.2393 0.1838 0.2748 0.1377 0.3279 0.3427 0.3173 hom 6963.43 221 10 23408278 . C T 6963.43 Mask AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4065;MQ=59.37;MQ0=0;QD=31.51;VQSLOD=8.2595;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,220:221:99:6931,530,0 10 23482635 23482635 T C exonic PTF1A nonsynonymous SNV PTF1A:NM_178161:exon2:c.T787C:p.S263P 0.62 0.6 0.63 0.87 0.47 0.56 0.5470 0.5697 0.7022 0.8903 0.4327 0.4864 0.5430 0.5350 0.51 0.56 0.49 0.66 0.39 rs7918487 COSM4144601 2(thyroid) Likely benign|Benign not_specified|Permanent_neonatal_diabetes_mellitus_(PNDM) RCV000118082.2|RCV000333285.1 MedGen|MedGen CN169374|CN239149 . . . . . . 0.035 0.437 D 0.022 0.174 B 0.011 0.145 B 0.000 0.629 N 0.002 0.440 P 1.18 0.301 L -3.56 0.949 D -2.27 0.506 N 0.081 0.074 -0.925 0.449 T 0.000 0.000 T . . . 3.333 0.459 22.9 0.989 0.481 0.982 0.800 D c -0.176 -0.065 1.000 0.437 0.447 0.083 0 3.02 0.338 4.083 0.571 1.058 0.762 1.000 0.715 0.594 0.287 9.307 0.369 . ENSG00000224215.1 Nerve_Tibial 0.5501 0.5683 0.6838 0.5617 0.8923 0.4383 0.4794 0.5545 0.5361 0.5111 0.5491 0.6262 0.5629 0.9026 0.4448 0.4566 0.4804 het 4062.11 250 10 23482635 . T C 4062.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.442;DP=250;DS;Dels=0.00;FS=1.644;HRun=5;HaplotypeScore=2.5562;MQ=58.78;MQ0=0;MQRankSum=0.137;QD=16.25;ReadPosRankSum=0.284;VQSLOD=6.1316;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,128:250:99:3420,0,3042 10 24762465 24762465 A G exonic KIAA1217 synonymous SNV KIAA1217:NM_001282769:exon2:c.A309G:p.A103A,KIAA1217:NM_001282770:exon2:c.A309G:p.A103A,KIAA1217:NM_001321681:exon2:c.A309G:p.A103A,KIAA1217:NM_001282767:exon6:c.A1155G:p.A385A,KIAA1217:NM_001282768:exon6:c.A1155G:p.A385A,KIAA1217:NM_019590:exon6:c.A1155G:p.A385A,KIAA1217:NM_001098500:exon7:c.A915G:p.A305A 0.075 0.0038 0.1 0.13 0.13 0.032 0.1054 0.0184 0.1057 0.1639 0.2640 0.1128 0.1148 0.0353 0.079 0.025 0.11 0.087 0.074 rs3748215 COSM3751696;COSM3751697 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1098 0.0169 0.1054 0.0595 0.1620 0.2588 0.1110 0.1040 0.0366 0.1086 0.0201 0.0907 0.0596 0.1827 0.2696 0.1154 0.1265 hom 6498.32 218 10 24762465 . A G 6498.32 Mask AC=2;AF=1.00;AN=2;DP=218;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1902;MQ=59.17;MQ0=0;QD=29.81;VQSLOD=7.6943;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:6497,532,0 10 24833137 24833137 C T exonic KIAA1217 synonymous SNV KIAA1217:NM_019590:exon19:c.C4938T:p.I1646I 0.26 0.25 0.31 0.14 0.4 0.22 0.3214 0.2729 0.2507 0.1506 0.3253 0.3867 0.3341 0.2248 0.35 0.28 0.38 0.26 0.34 rs2250411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3195 0.2708 0.2561 0.3454 0.1539 0.3211 0.3924 0.3438 0.2280 0.3238 0.2756 0.2945 0.3367 0.1615 0.3273 0.3677 0.3605 hom 3704.78 110 10 24833137 . C T 3704.78 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7186;MQ=58.93;MQ0=0;QD=33.68;VQSLOD=9.7406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3704,292,0 10 24908686 24908686 T C exonic ARHGAP21 nonsynonymous SNV ARHGAP21:NM_020824:exon9:c.A2138G:p.N713S 0.44 0.44 0.47 0.37 0.51 0.41 0.4977 0.4509 0.4799 0.3640 0.5495 0.5334 0.5121 0.4439 0.51 0.46 0.54 0.43 0.59 rs3748222 COSM5000479;COSM146906;COSM3927634 1(stomach);1(pancreas);1(prostate);1(large_intestine) . . . . . . . . . . . 0.504 0.115 T 0.023 0.176 B 0.024 0.190 B 0.094 0.202 N 1 0.090 P -0.55 0.024 N 1.02 0.407 T -0.06 0.080 N 0.011 0.052 -0.920 0.455 T 0.000 0.000 T . . . -1.922 0.009 0.001 0.492 0.041 0.028 0.075 N c -1.028 -0.996 0.916 0.265 0.707 0.730 0 1.19 0.200 -0.428 0.070 0.146 0.234 0.000 0.063 0.244 0.227 1.035 0.014 . . . 0.4968 0.4509 0.4828 0.5566 0.3630 0.5372 0.5272 0.5141 0.4482 0.5025 0.4448 0.4640 0.5331 0.3789 0.5447 0.5394 0.5266 het 1302.60 105 10 24908686 . T C 1302.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.741;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=47.28;MQ0=0;MQRankSum=1.446;QD=12.41;ReadPosRankSum=0.337;VQSLOD=3.0144;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:51,54:105:99:1333,0,1330 10 25273744 25273744 T C exonic ENKUR nonsynonymous SNV ENKUR:NM_001270383:exon5:c.A499G:p.R167G,ENKUR:NM_145010:exon5:c.A685G:p.R229G 0.001 . 0.0014 . 0.004 . 0.0045 0.0015 0.0024 0 0.0082 0.0066 0.0044 0.0002 0.0047 0.002 0.006 . 0.0082 rs33980615 . . . . . . . . . . . . . 0.028 0.461 D 0.772 0.420 P 0.428 0.435 B 0.024 0.262 N 0.853 0.284 N 1.15 0.294 L . . . -4.28 0.763 D 0.177 0.215 -0.999 0.303 T 0.076 0.305 T 0.003 0.066 T 2.991 0.420 22.2 0.996 0.742 0.805 0.398 D c 0.110 0.171 0.004 0.105 0.487 0.133 0 5.25 0.731 1.322 0.331 1.061 0.807 0.799 0.295 0.998 0.697 11.740 0.509 Enkurin domain . . 0.0046 0.0014 0.0035 0.0075 0 0.0082 0.0064 0.0058 0.0002 0.0049 0.0010 0.0048 0.0166 0 0.0083 0.0061 0.0132 het 1203.43 99 10 25273744 . T C 1203.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.800;DP=99;Dels=0.00;FS=5.079;HRun=2;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;MQRankSum=1.638;QD=12.16;ReadPosRankSum=1.470;VQSLOD=4.7064;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,46:99:99:1233,0,1395 10 25312689 25312689 A G exonic THNSL1 synonymous SNV THNSL1:NM_024838:exon3:c.A537G:p.G179G 0.31 0.075 0.43 0.49 0.27 0.39 0.3230 0.0970 0.5209 0.5024 0.3095 0.2812 0.3429 0.4036 0.22 0.093 0.28 0.26 0.27 rs4748997 COSM3747165 1(breast);1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3329 0.0913 0.4910 0.2794 0.4974 0.3140 0.2819 0.3237 0.4063 0.2420 0.0903 0.4378 0.3079 0.5006 0.3011 0.2721 0.3082 het 955.99 78 10 25312689 . A G 955.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.814;DP=78;Dels=0.00;FS=0.859;HRun=2;HaplotypeScore=1.9966;MQ=58.49;MQ0=0;MQRankSum=-0.925;QD=12.26;ReadPosRankSum=-0.285;VQSLOD=5.4965;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:986,0,990 10 25313818 25313818 C T exonic THNSL1 synonymous SNV THNSL1:NM_024838:exon3:c.C1666T:p.L556L 0.51 0.69 0.54 0.49 0.35 0.43 0.4221 0.6553 0.5669 0.5031 0.3630 0.3511 0.4181 0.4434 0.45 0.64 0.35 0.51 0.37 rs7086282 COSM146908 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4210 0.6586 0.5469 0.3372 0.4977 0.3664 0.3510 0.4018 0.4457 0.4474 0.6454 0.5084 0.3775 0.5031 0.3519 0.3488 0.4107 het 1027.06 69 10 25313818 . C T 1027.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.359;DP=69;Dels=0.00;FS=2.041;HRun=1;HaplotypeScore=1.3302;MQ=59.12;MQ0=0;MQRankSum=2.233;QD=14.88;ReadPosRankSum=0.466;VQSLOD=5.9174;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,39:69:99:1057,0,819 10 25701341 25701341 C G exonic GPR158 nonsynonymous SNV GPR158:NM_020752:exon4:c.C1274G:p.A425G 0.49 0.46 0.5 0.16 0.69 0.66 0.6229 0.4644 0.4546 0.1475 0.6025 0.7298 0.6586 0.6641 0.64 0.48 0.73 0.5 0.57 rs2480345 COSM5618405 1(breast) . . . . . . . . . . . 0.262 0.164 T 0.004 0.112 B 0.016 0.166 B 0.012 0.292 N 0.938 0.269 P 1.02 0.256 L 0.22 0.599 T -1.94 0.450 N 0.115 0.278 -0.983 0.343 T 0.000 0.000 T . . . 2.461 0.357 19.22 0.994 0.603 0.828 0.417 D c -0.240 -0.010 0.000 0.044 0.554 0.246 0 4.01 0.457 3.279 0.511 0.935 0.490 1.000 0.715 1.000 0.888 14.014 0.639 GPCR family 3\x2c C-terminal . . 0.6126 0.4594 0.4579 0.6904 0.1475 0.5998 0.7323 0.6484 0.6621 0.5975 0.4708 0.5287 0.6556 0.1588 0.5859 0.7192 0.6680 het 4036.18 243 10 25701341 . C G 4036.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.354;DP=243;DS;Dels=0.00;FS=1.060;HRun=1;HaplotypeScore=3.2071;MQ=58.83;MQ0=0;MQRankSum=-0.830;QD=16.61;ReadPosRankSum=1.337;VQSLOD=5.3758;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,116:243:99:3403,0,3405 10 25888180 25888180 A G exonic GPR158 nonsynonymous SNV GPR158:NM_020752:exon11:c.A3625G:p.I1209V 0.66 0.97 0.51 0.76 0.4 0.54 0.5157 0.8901 0.5222 0.7634 0.4952 0.4299 0.4955 0.5046 0.57 0.87 0.42 0.65 0.41 rs10828833 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.255 0.037 N 1 0.090 P -0.345 0.033 N 0.29 0.589 T 0.42 0.034 N 0.007 0.002 -0.958 0.395 T 0.000 0.000 T . . . -1.699 0.013 0.002 0.158 0.004 0.039 0.092 N c -0.969 -0.788 0.000 0.012 0.554 0.246 0 3.1 0.346 0.874 0.275 0.138 0.222 0.583 0.274 0.794 0.334 10.728 0.451 . . . 0.5058 0.8990 0.5169 0.3838 0.7689 0.4909 0.4245 0.4677 0.5011 0.6006 0.8936 0.5060 0.3576 0.7637 0.4822 0.4541 0.5418 het 588.68 69 10 25888180 . A G 588.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.164;DP=69;Dels=0.00;FS=3.605;HRun=1;HaplotypeScore=1.8808;MQ=58.10;MQ0=0;MQRankSum=0.836;QD=8.53;ReadPosRankSum=-0.935;VQSLOD=4.9307;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,26:69:99:619,0,1105 10 26310470 26310470 C T exonic MYO3A synonymous SNV MYO3A:NM_017433:exon8:c.C624T:p.D208D 0.049 0.063 0.053 0.001 0.097 0.025 0.0715 0.0666 0.0503 0.0009 0.0721 0.0950 0.0617 0.0316 0.089 0.067 0.1 0.054 0.15 rs35010955 . . Benign|Uncertain significance not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000039047.3|RCV000345975.1 MedGen|MedGen CN169374|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0709 0.0657 0.0549 0.0920 0.0006 0.0704 0.0955 0.0833 0.0326 0.0713 0.0643 0.0513 0.0629 0.0006 0.0753 0.0836 0.0666 het 1681.37 181 10 26310470 . C T 1681.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.034;DP=181;Dels=0.00;FS=3.581;HRun=0;HaplotypeScore=2.2657;MQ=59.04;MQ0=0;MQRankSum=1.187;QD=9.29;ReadPosRankSum=0.045;VQSLOD=5.8013;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,70:181:99:1711,0,2701 10 26310506 26310506 C T exonic MYO3A synonymous SNV MYO3A:NM_017433:exon8:c.C660T:p.A220A 0.035 0.015 0.05 0.001 0.095 0.025 0.0679 0.0284 0.0486 0.0009 0.0721 0.0948 0.0606 0.0316 0.076 0.03 0.1 0.033 0.15 rs34067308 . . Benign|Uncertain significance not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000039049.3|RCV000404647.1 MedGen|MedGen CN169374|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0678 0.0261 0.0512 0.0920 0.0006 0.0704 0.0953 0.0817 0.0325 0.0602 0.0261 0.0480 0.0629 0.0006 0.0753 0.0832 0.0644 het 1912.42 165 10 26310506 . C T 1912.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.709;DP=165;Dels=0.00;FS=1.237;HRun=0;HaplotypeScore=8.7019;MQ=58.26;MQ0=0;MQRankSum=-1.514;QD=11.59;ReadPosRankSum=-0.299;VQSLOD=3.3871;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,75:165:99:1942,0,2594 10 26355906 26355906 G A exonic MYO3A nonsynonymous SNV MYO3A:NM_017433:exon11:c.G956A:p.R319H 0.39 0.31 0.35 0.29 0.55 0.48 0.4850 0.3601 0.3053 0.2787 0.5738 0.5545 0.5309 0.4783 0.49 0.37 0.55 0.39 0.52 rs3824700 COSM3751700;COSM3751699 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid);1(large_intestine) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000039050.3|RCV000367265.1 MedGen|MedGen CN169374|CN239439 . . . . . . 1.0 0.033 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -2.65 0.000 N -1.07 0.770 T 4.19 0.000 N 0.061 0.047 -0.924 0.450 T 0.000 0.000 T . . . 2.012 0.303 16.29 0.146 0.003 0.058 0.115 N c -0.871 -0.530 0.000 0.060 0.638 0.428 0 5.56 0.836 3.698 0.543 0.244 0.267 1.000 0.715 0.992 0.562 6.739 0.225 . ENSG00000095777.10 Testis 0.4806 0.3510 0.3181 0.5278 0.2711 0.5806 0.5538 0.5091 0.4821 0.4821 0.3633 0.3645 0.4702 0.2497 0.5671 0.5608 0.5163 het 721.34 77 10 26355906 . G A 721.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.194;DP=77;Dels=0.00;FS=0.912;HRun=0;HaplotypeScore=0.0000;MQ=56.77;MQ0=0;MQRankSum=-0.992;QD=9.37;ReadPosRankSum=-0.743;VQSLOD=3.6743;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,31:77:99:751,0,1129 10 26355992 26355992 A G exonic MYO3A nonsynonymous SNV MYO3A:NM_017433:exon11:c.A1042G:p.I348V 0.66 0.69 0.63 0.62 0.72 0.63 0.6786 0.6801 0.6182 0.6192 0.7706 0.6993 0.6927 0.6296 0.68 0.68 0.68 0.7 0.66 rs3824699 COSM4419522;COSM4419521 3(haematopoietic_and_lymphoid_tissue);1(biliary_tract) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000039019.3|RCV000396925.1 MedGen|MedGen CN169374|CN239439 . . . . . . 1.0 0.020 T 0.0 0.026 B 0.0 0.040 B 0.019 0.274 N 1 0.090 P -0.83 0.015 N -0.53 0.868 T 0.52 0.029 N 0.065 0.051 -0.922 0.453 T 0.000 0.000 T . . . -0.562 0.052 0.155 0.341 0.021 0.016 0.052 N c -1.013 -0.754 0.000 0.012 0.554 0.246 0 2.73 0.311 2.065 0.408 0.138 0.222 1.000 0.715 0.972 0.466 9.617 0.387 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.6769 0.6738 0.6221 0.6689 0.6201 0.7718 0.6966 0.6798 0.6315 0.7035 0.6851 0.6108 0.5993 0.6098 0.7666 0.7157 0.7204 hom 2460.59 79 10 26355992 . A G 2460.59 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.94;MQ0=0;QD=31.15;VQSLOD=8.6998;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2494,193,0 10 26357747 26357747 C T exonic MYO3A synonymous SNV MYO3A:NM_017433:exon12:c.C1104T:p.Y368Y 0.4 0.31 0.35 0.3 0.56 0.48 0.4834 0.3595 0.3030 0.2772 0.5729 0.5527 0.5287 0.4781 0.45 0.34 0.51 . 0.5 rs35379457 COSM3930988;COSM1559312 1(breast);1(urinary_tract);3(central_nervous_system) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000039023.4|RCV000317274.1 MedGen|MedGen CN169374|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4800 0.3511 0.3176 0.5279 0.2708 0.5800 0.5531 0.5091 0.4819 0.4807 0.3623 0.3648 0.4765 0.2485 0.5665 0.5591 0.5163 het 875.66 83 10 26357747 . C T 875.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.266;DP=83;Dels=0.00;FS=0.874;HRun=0;HaplotypeScore=0.8321;MQ=58.99;MQ0=0;MQRankSum=-1.253;QD=10.55;ReadPosRankSum=0.014;VQSLOD=5.7365;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:906,0,1112 10 26357748 26357748 G A exonic MYO3A nonsynonymous SNV MYO3A:NM_017433:exon12:c.G1105A:p.V369I 0.67 0.71 0.64 0.62 0.72 0.63 0.6794 0.7016 0.6179 0.6180 0.7694 0.6979 0.6914 0.6293 0.67 0.68 0.66 0.32 0.67 rs3817420 COSM4419717;COSM4419716 4(haematopoietic_and_lymphoid_tissue);1(oesophagus) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000039024.3|RCV000360450.1 MedGen|MedGen CN169374|CN239439 . . . . . . 0.304 0.267 T 0.0 0.067 B 0.0 0.040 B 0.000 0.629 N 1 0.090 P 0.255 0.098 N -0.59 0.871 T -0.66 0.197 N 0.051 0.032 -0.903 0.477 T 0.000 0.000 T . . . 2.301 0.338 18.17 0.978 0.353 0.102 0.156 N c -0.643 -0.446 0.000 0.042 0.554 0.246 0 3.19 0.356 4.228 0.582 0.244 0.267 1.000 0.715 0.995 0.604 6.144 0.194 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000095777.10 Testis 0.6781 0.6977 0.6225 0.6686 0.6199 0.7713 0.6962 0.6808 0.6313 0.7099 0.7101 0.6134 0.6074 0.6088 0.7653 0.7146 0.7189 hom 2383.96 86 10 26357748 . G A 2383.96 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.03;MQ0=0;QD=27.72;VQSLOD=7.8997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2417,184,0 10 26434455 26434455 G T exonic MYO3A nonsynonymous SNV MYO3A:NM_017433:exon22:c.G2497T:p.A833S 0.033 0.0076 0.049 0.001 0.096 0.022 0.0645 0.0188 0.0465 0.0011 0.0719 0.0908 0.0649 0.0296 0.069 0.02 0.093 0.033 0.074 rs33947968 . . Benign not_specified RCV000039030.3 MedGen CN169374 . . . . . . 0.0 0.912 D 1.0 0.899 D 0.998 0.875 D 0.000 0.843 D 1 0.810 D 3.36 0.914 M -3.08 0.926 D -2.95 0.615 D 0.35 0.437 -0.177 0.783 T 0.342 0.708 T . . . 6.581 0.905 31 0.997 0.831 0.994 0.957 D c 1.094 1.027 1.000 0.747 0.554 0.283 0 5.72 0.893 10.003 0.997 1.048 0.713 1.000 0.715 0.999 0.750 19.88 0.969 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0640 0.0169 0.0494 0.0919 0.0006 0.0699 0.0896 0.0794 0.0303 0.0555 0.0167 0.0453 0.0629 0.0006 0.0756 0.0792 0.0633 het 637 48 10 26434455 . G T 637 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.508;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=-1.053;QD=13.27;ReadPosRankSum=1.403;VQSLOD=5.7801;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,25:48:99:667,0,550 10 26446312 26446312 G A exonic MYO3A nonsynonymous SNV MYO3A:NM_017433:exon26:c.G2867A:p.S956N 0.46 0.43 0.45 0.36 0.56 0.48 0.5064 0.4660 0.3897 0.3357 0.5800 0.5535 0.5419 0.4810 0.52 0.47 0.55 0.47 0.56 rs3758449 COSM146910 1(stomach);3(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000039031.3|RCV000333688.1 MedGen|MedGen CN169374|CN239439 . . . . . . 0.746 0.036 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.810 P -0.48 0.027 N -0.56 0.712 T 2.0 0.004 N 0.016 0.003 -0.950 0.410 T 0.000 0.000 T . . . 1.104 0.200 11.23 0.261 0.012 0.218 0.213 N c -0.613 -0.347 0.006 0.113 0.615 0.372 0 4.17 0.481 5.363 0.656 0.168 0.246 1.000 0.715 0.999 0.750 9.520 0.381 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000095777.10 Testis 0.5030 0.4611 0.3989 0.5223 0.3217 0.5873 0.5533 0.5215 0.4859 0.5175 0.47 0.4296 0.4636 0.3017 0.5734 0.5606 0.5295 het 2106.19 134 10 26446312 . G A 2106.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.109;DP=134;Dels=0.00;FS=3.179;HRun=1;HaplotypeScore=0.7340;MQ=58.99;MQ0=0;MQRankSum=-0.098;QD=15.72;ReadPosRankSum=0.828;VQSLOD=6.1693;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,80:134:99:2136,0,1457 10 26463043 26463043 A T exonic MYO3A nonsynonymous SNV MYO3A:NM_017433:exon30:c.A3850T:p.T1284S 0.38 0.3 0.37 0.35 0.44 0.46 0.4145 0.3354 0.3472 0.3389 0.4565 0.4361 0.4536 0.4442 0.4 0.33 0.43 0.32 0.38 rs3740231 COSM146912 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(pancreas);1(prostate) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000039036.3|RCV000319606.1 MedGen|MedGen CN169374|CN239439 . . . . . . 0.394 0.107 T 0.003 0.102 B 0.002 0.063 B 0.341 0.042 N 1 0.090 P 0.345 0.112 N -1.11 0.775 T -0.23 0.107 N 0.018 0.003 -1.020 0.236 T 0.000 0.000 T . . . -1.494 0.017 0.003 0.541 0.050 0.048 0.104 N c -1.235 -1.282 0.000 0.044 0.554 0.283 0 -3.44 0.045 0.061 0.141 0.192 0.249 0.000 0.063 0.687 0.306 2.716 0.048 . ENSG00000095777.10 Testis 0.4129 0.3260 0.3482 0.4478 0.3220 0.4653 0.4331 0.4437 0.4497 0.4008 0.3325 0.3747 0.3874 0.2993 0.4463 0.4406 0.4308 het 862.24 75 10 26463043 . A T 862.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.666;DP=75;Dels=0.00;FS=3.132;HRun=0;HaplotypeScore=1.5810;MQ=58.03;MQ0=0;MQRankSum=-0.303;QD=11.50;ReadPosRankSum=-0.516;VQSLOD=4.9483;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,34:75:99:892,0,1070 10 26463130 26463130 C A exonic MYO3A nonsynonymous SNV MYO3A:NM_017433:exon30:c.C3937A:p.R1313S 0.6 0.55 0.63 0.63 0.6 0.61 0.5987 0.5536 0.6579 0.6378 0.6542 0.5856 0.6101 0.5951 0.56 0.55 0.57 0.6 0.57 rs1999240 COSM5425503 2(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000039038.3|RCV000378944.1 MedGen|MedGen CN169374|CN239439 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.401 N 1 0.480 P 0 0.065 N -1.16 0.781 T 0.64 0.024 N 0.009 0.001 -0.920 0.455 T 0.000 0.000 T . . . 1.361 0.227 12.59 0.268 0.013 0.008 0.033 N c -0.869 -0.705 0.000 0.046 0.554 0.283 0 4.07 0.466 1.640 0.366 0.242 0.267 0.951 0.329 0.657 0.300 8.659 0.331 . . . 0.6019 0.5435 0.6492 0.5891 0.6296 0.6575 0.5820 0.6093 0.5984 0.5938 0.5509 0.6086 0.5166 0.6203 0.6463 0.6024 0.6245 hom 5832.09 196 10 26463130 . C A 5832.09 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.089;DP=196;Dels=0.00;FS=2.617;HRun=0;HaplotypeScore=6.9178;MQ=59.46;MQ0=0;MQRankSum=0.031;QD=29.76;ReadPosRankSum=0.661;VQSLOD=3.4610;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,194:196:99:5787,416,0 10 26559571 26559571 G C exonic GAD2 synonymous SNV GAD2:NM_000818:exon10:c.G978C:p.G326G,GAD2:NM_001134366:exon10:c.G978C:p.G326G 0.045 0.0083 0.058 0.045 0.11 0.024 0.0720 0.0206 0.0452 0.0525 0.0819 0.0980 0.0650 0.0247 0.077 0.023 0.11 0.043 0.11 rs1556234 COSM4417789 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0731 0.0194 0.0504 0.0967 0.0547 0.0800 0.0998 0.0824 0.0237 0.0648 0.0189 0.0549 0.0662 0.0494 0.0813 0.0896 0.0692 het 2937.77 250 10 26559571 . G C 2937.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.476;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7667;MQ=59.35;MQ0=0;MQRankSum=-0.596;QD=11.75;ReadPosRankSum=1.581;VQSLOD=3.4650;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:2968,0,3686 10 27389197 27389197 T C exonic ANKRD26 nonsynonymous SNV ANKRD26:NM_001256053:exon1:c.A59G:p.Q20R,ANKRD26:NM_014915:exon1:c.A59G:p.Q20R 0.94 0.99 0.93 1. 0.86 0.92 0.8977 0.9719 0.9387 0.9996 0.9276 0.8580 0.8878 0.9201 0.89 0.97 0.86 0.51 0.59 rs7897309 COSM3751701;COSM5826688 1(thyroid);3(large_intestine) Benign|Likely benign not_specified|Thrombocytopenia RCV000242897.1|RCV000275550.1 MedGen|MedGen CN169374|CN130080 . . . . . . 1.0 0.020 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.355 0.007 N 1.63 0.280 T 1.15 0.012 N 0.074 0.084 -0.984 0.342 T 0.000 0.000 T . . . -1.524 0.016 0.002 0.661 0.077 0.004 0.019 N c -1.594 -1.575 1.000 0.747 0.442 0.072 0 -1.08 0.094 -1.094 0.034 -0.472 0.054 0.000 0.063 0.003 0.074 4.550 0.114 Ankyrin repeat-containing domain ENSG00000120539.10|ENSG00000120539.10|ENSG00000120539.10|ENSG00000120539.10|ENSG00000120539.10|ENSG00000120539.10|ENSG00000120539.10|ENSG00000120539.10|ENSG00000120539.10|ENSG00000120539.10|ENSG00000232224.1|ENSG00000120539.10|ENSG00000230445.4|ENSG00000120539.10|ENSG00000120539.10|ENSG00000120539.10|ENSG00000120539.10|ENSG00000107897.14|ENSG00000120539.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid 0.8990 0.9745 0.9326 0.8768 0.9996 0.9293 0.8532 0.8922 0.9206 0.9039 0.9727 0.9010 0.8477 1 0.9275 0.8493 0.9043 het 719.44 91 10 27389197 . T C 719.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.762;DP=91;Dels=0.00;FS=5.574;HRun=1;HaplotypeScore=0.9992;MQ=59.49;MQ0=0;MQRankSum=0.046;QD=7.91;ReadPosRankSum=-0.823;VQSLOD=4.3902;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,36:91:99:749,0,1595 10 27459670 27459670 C T exonic MASTL synonymous SNV MASTL:NM_001172303:exon8:c.C1782T:p.I594I,MASTL:NM_001172304:exon8:c.C1782T:p.I594I,MASTL:NM_001320756:exon8:c.C1782T:p.I594I,MASTL:NM_001320757:exon8:c.C1782T:p.I594I,MASTL:NM_032844:exon8:c.C1782T:p.I594I 0.5 0.52 0.52 0.44 0.6 0.43 0.5911 0.5413 0.5425 0.4305 0.6670 0.6473 0.5542 0.4850 0.62 0.55 0.65 0.47 0.62 rs1981296 . . Benign|Likely benign not_specified|Thrombocytopenia RCV000254292.1|RCV000364431.1 MedGen|MedGen CN169374|CN130080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5903 0.5446 0.5338 0.6173 0.4308 0.6641 0.6486 0.6169 0.4861 0.6064 0.5466 0.5489 0.6324 0.4257 0.6652 0.6482 0.6245 het 717.14 67 10 27459670 . C T 717.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.436;DP=67;Dels=0.00;FS=3.289;HRun=1;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=0.221;QD=10.70;ReadPosRankSum=0.120;VQSLOD=5.9704;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,30:67:99:747,0,969 10 27475444 27475444 T C exonic MASTL synonymous SNV MASTL:NM_001172304:exon11:c.T2502C:p.T834T,MASTL:NM_001172303:exon12:c.T2619C:p.T873T,MASTL:NM_032844:exon12:c.T2616C:p.T872T,MASTL:NM_001320756:exon13:c.T2631C:p.T877T,MASTL:NM_001320757:exon13:c.T2634C:p.T878T 0.51 0.53 0.52 0.46 0.61 0.43 0.5971 0.5501 0.5437 0.4343 0.6736 0.6556 0.5562 0.4845 0.63 0.56 0.66 0.47 0.69 rs10741130 COSM5654152 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Thrombocytopenia RCV000245396.1|RCV000372462.1 MedGen|MedGen CN169374|CN130080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5960 0.5561 0.5355 0.6174 0.4334 0.6716 0.6571 0.6206 0.4853 0.6134 0.5568 0.5502 0.6324 0.4266 0.6735 0.6540 0.6334 het 2445.75 242 10 27475444 . T C 2445.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.351;DP=242;DS;Dels=0.00;FS=4.567;HRun=1;HaplotypeScore=2.1968;MQ=59.45;MQ0=0;MQRankSum=0.508;QD=10.11;ReadPosRankSum=0.534;VQSLOD=5.7285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:139,103:242:99:2476,0,3616 10 27508758 27508758 T C exonic ACBD5 synonymous SNV ACBD5:NM_001301252:exon4:c.A192G:p.P64P,ACBD5:NM_001301254:exon4:c.A192G:p.P64P,ACBD5:NM_001271512:exon5:c.A513G:p.P171P,ACBD5:NM_001301251:exon5:c.A192G:p.P64P,ACBD5:NM_001301253:exon5:c.A192G:p.P64P,ACBD5:NM_001042473:exon6:c.A414G:p.P138P,ACBD5:NM_145698:exon6:c.A519G:p.P173P 0.32 0.07 0.39 0.41 0.47 0.35 0.4499 0.1470 0.4490 0.4108 0.5136 0.5150 0.4216 0.3747 0.39 0.16 0.51 0.21 0.52 rs10764690 COSM1178410;COSM1178411 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4530 0.1414 0.4364 0.4106 0.4101 0.5062 0.5218 0.4717 0.3726 0.4085 0.1478 0.4402 0.4139 0.4172 0.5153 0.5278 0.4816 het 1447.76 138 10 27508758 . T C 1447.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.721;DP=138;Dels=0.00;FS=1.677;HRun=0;HaplotypeScore=0.8321;MQ=59.06;MQ0=0;MQRankSum=1.213;QD=10.49;ReadPosRankSum=0.323;VQSLOD=6.6157;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,62:138:99:1478,0,2135 10 27687225 27687225 A G exonic PTCHD3 stoploss PTCHD3:NM_001034842:exon4:c.T2302C:p.X768Q 0.55 0.53 0.52 0.37 0.68 0.65 0.6303 0.5566 0.4198 0.3649 0.6879 0.6878 0.6490 0.7233 0.63 0.53 0.68 0.55 0.4 rs2505323 COSM3997930 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . 0.313 0.124 5.818 0.575 0.056 0.001 0.009 N c 0.065 -0.290 0.000 0.065 0.061 0.009 0 3.46 0.386 0.092 0.148 -0.018 0.130 0.017 0.192 0.144 0.203 10.222 0.422 . ENSG00000182077.6|ENSG00000099246.12|ENSG00000182077.6|ENSG00000182077.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Breast_Mammary_Tissue 0.6160 0.5441 0.4359 0.7488 0.3467 0.6794 0.6777 0.6303 0.6924 0.6193 0.5535 0.4796 0.7583 0.3590 0.6743 0.6751 0.6616 het 269.89 26 10 27687225 . A G 269.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.661;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9973;MQ=57.46;MQ0=0;MQRankSum=1.038;QD=10.38;ReadPosRankSum=-1.453;VQSLOD=5.3477;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,11:26:99:300,0,402 10 27687775 27687775 T C exonic PTCHD3 nonsynonymous SNV PTCHD3:NM_001034842:exon4:c.A1752G:p.I584M 0.97 0.96 0.98 1. 0.96 0.98 0.9705 0.9680 0.9715 0.9965 0.9785 0.9630 0.9703 0.9850 0.96 0.97 0.96 0.96 0.92 rs1638630 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.009 0.306 N 1 0.090 P -1.825 0.003 N -2.02 0.856 D 1.45 0.008 N 0.036 0.016 -0.929 0.443 T 0.000 0.000 T . . . -2.352 0.004 0.001 0.055 0.000 0.005 0.024 N c -0.838 -0.936 0.000 0.050 0.487 0.133 0 1.18 0.200 0.561 0.230 -0.197 0.102 0.982 0.353 0.484 0.268 4.863 0.129 . . . 0.9699 0.9688 0.9696 0.9731 0.9961 0.9789 0.9598 0.9730 0.9849 0.9626 0.9667 0.9629 0.9768 0.9981 0.9782 0.9520 0.9704 het 945.23 59 10 27687775 . T C 945.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.725;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7005;MQ=59.22;MQ0=0;MQRankSum=1.275;QD=16.02;ReadPosRankSum=-1.137;VQSLOD=5.9915;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,33:59:99:975,0,694 10 27687965 27687965 A G exonic PTCHD3 nonsynonymous SNV PTCHD3:NM_001034842:exon4:c.T1562C:p.M521T 0.55 0.53 0.52 0.37 0.68 0.65 0.6187 0.5436 0.4046 0.3500 0.6841 0.6771 0.6300 0.6941 0.63 0.53 0.68 0.54 0.66 rs2505327 COSM3997931 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.005 0.335 N 0.986 0.247 P -2.62 0.000 N -1.95 0.850 D 3.09 0.001 N 0.048 0.029 -0.935 0.434 T 0.000 0.000 T . . . -0.674 0.046 0.083 0.302 0.016 0.031 0.080 N c -1.010 -0.744 0.008 0.116 0.516 0.203 0 4.08 0.467 4.025 0.567 -0.136 0.110 1.000 0.715 0.660 0.300 11.730 0.508 Sterol-sensing domain ENSG00000182077.6|ENSG00000099246.12|ENSG00000182077.6|ENSG00000182077.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Breast_Mammary_Tissue 0.6159 0.5438 0.4276 0.7479 0.3488 0.6797 0.6767 0.6312 0.6949 0.6193 0.5534 0.4809 0.7633 0.3594 0.6746 0.6753 0.6598 het 899.78 95 10 27687965 . A G 899.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.260;DP=95;Dels=0.00;FS=4.096;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.224;QD=9.47;ReadPosRankSum=0.300;VQSLOD=6.0453;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,38:95:99:930,0,1532 10 27687994 27687994 A G exonic PTCHD3 synonymous SNV PTCHD3:NM_001034842:exon4:c.T1533C:p.S511S 0.55 0.53 0.52 0.37 0.68 0.65 0.6187 0.5437 0.4043 0.3503 0.6841 0.6771 0.6302 0.6941 0.63 0.54 0.68 0.54 0.66 rs2484173 COSM3997932 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6158 0.5437 0.4273 0.7478 0.3488 0.6798 0.6767 0.6312 0.6950 0.6194 0.5532 0.4819 0.7633 0.3619 0.6741 0.6751 0.6622 het 960.55 120 10 27687994 . A G 960.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.679;DP=120;Dels=0.00;FS=4.763;HRun=1;HaplotypeScore=1.6598;MQ=59.18;MQ0=0;MQRankSum=0.253;QD=8.00;ReadPosRankSum=-0.754;VQSLOD=5.4772;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,44:120:99:991,0,2137 10 27688109 27688109 T C exonic PTCHD3 nonsynonymous SNV PTCHD3:NM_001034842:exon4:c.A1418G:p.D473G 0.55 0.53 0.52 0.37 0.68 0.65 0.6193 0.5444 0.4049 0.3520 0.6846 0.6773 0.6297 0.6949 0.63 0.53 0.68 0.55 0.63 rs2429485 COSM3997933 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.414 0.100 T 0.001 0.067 B 0.008 0.127 B 0.601 0.109 N 1 0.090 P 1.285 0.324 L -2.01 0.855 D -2.87 0.603 D 0.04 0.020 -0.938 0.430 T 0.000 0.000 T . . . -1.207 0.025 0.006 0.245 0.011 0.071 0.130 N c -1.278 -1.298 0.000 0.046 0.516 0.203 0 -0.118 0.128 2.124 0.414 -0.135 0.110 0.086 0.223 0.001 0.043 1.184 0.017 Sterol-sensing domain ENSG00000182077.6|ENSG00000099246.12|ENSG00000182077.6|ENSG00000182077.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Breast_Mammary_Tissue 0.6139 0.5436 0.4274 0.7476 0.3486 0.6770 0.6763 0.6309 0.6951 0.6178 0.5503 0.4754 0.7584 0.3565 0.6762 0.6756 0.6620 het 1102.23 100 10 27688109 . T C 1102.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.792;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8309;MQ=58.83;MQ0=0;MQRankSum=-1.285;QD=11.02;ReadPosRankSum=-0.961;VQSLOD=5.6222;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,44:100:99:1132,0,1435 10 27692279 27692279 A C exonic PTCHD3 nonsynonymous SNV PTCHD3:NM_001034842:exon3:c.T1219G:p.C407G 0.43 0.42 0.41 0.54 0.39 0.39 0.3985 0.4306 0.3835 0.5172 0.3548 0.3882 0.4002 0.3853 0.42 0.46 0.4 0.43 0.37 rs2484180 . . . . . . . . . . . . . 0.256 0.168 T 0.257 0.297 B 0.27 0.381 B 0.012 0.292 N 1.000 0.210 P 2.505 0.732 M -1.94 0.849 D -4.22 0.758 D 0.188 0.230 -0.891 0.489 T 0.000 0.000 T . . . 1.215 0.212 11.83 0.784 0.119 0.557 0.297 D c -0.164 -0.184 0.000 0.012 0.487 0.133 0 2.92 0.329 2.048 0.407 0.916 0.428 1.000 0.715 0.190 0.215 5.108 0.140 Sterol-sensing domain ENSG00000182077.6|ENSG00000182077.6|ENSG00000182077.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Testis 0.3961 0.4302 0.3961 0.3704 0.5238 0.3280 0.3914 0.3940 0.3808 0.4091 0.4414 0.4175 0.3733 0.5539 0.3448 0.3916 0.3835 het 920.06 95 10 27692279 . A C 920.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.705;DP=95;Dels=0.00;FS=0.805;HRun=1;HaplotypeScore=8.7752;MQ=59.12;MQ0=0;MQRankSum=-0.480;QD=9.68;ReadPosRankSum=-1.067;VQSLOD=3.9692;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,42:95:99:950,0,1422 10 27702256 27702256 - C exonic PTCHD3 frameshift insertion PTCHD3:NM_001034842:exon1:c.923dupG:p.S309Qfs*25 0.28 0.27 0.3 0.18 0.34 0.3 0.3083 0.2805 0.2193 0.1581 0.3106 0.3488 0.3293 0.3013 0.33 0.28 0.36 0.022 . rs369926016 COSM4381282 1(large_intestine);4(central_nervous_system) Benign not_specified RCV000456052.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3055 0.2791 0.2379 0.3445 0.1563 0.2943 0.3528 0.3159 0.2978 0.3173 0.2836 0.2745 0.3533 0.1745 0.3046 0.3568 0.3224 het 1889.77 141 10 27702256 . G GC 1889.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.582;DP=141;DS;FS=2.524;HRun=6;HaplotypeScore=350.0383;MQ=60.30;MQ0=0;MQRankSum=0.094;QD=13.40;ReadPosRankSum=-0.271;set=variant2 GT:AD:DP:GQ:PL 0/1:79,61:141:99:1929,0,1487 10 27964470 27964470 G A exonic MKX synonymous SNV MKX:NM_001242702:exon6:c.C852T:p.N284N,MKX:NM_173576:exon6:c.C852T:p.N284N 0.29 0.29 0.35 0.12 0.34 0.34 0.3226 0.3049 0.3207 0.1096 0.3588 0.3492 0.2783 0.3271 0.33 0.31 0.33 0.35 0.39 rs2253230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3212 0.2992 0.3297 0.3584 0.1114 0.3690 0.3409 0.3248 0.3220 0.3178 0.2826 0.3505 0.3477 0.1104 0.3756 0.3428 0.3510 het 931.29 73 10 27964470 . G A 931.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.264;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;MQRankSum=-0.778;QD=12.76;ReadPosRankSum=1.066;VQSLOD=6.4029;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:961,0,945 10 28228865 28228865 A G exonic ARMC4 synonymous SNV ARMC4:NM_001290021:exon7:c.T633C:p.N211N,ARMC4:NM_001312689:exon9:c.T1134C:p.N378N,ARMC4:NM_001290020:exon14:c.T2058C:p.N686N,ARMC4:NM_018076:exon14:c.T2058C:p.N686N 0.53 0.47 0.58 0.5 0.55 0.61 0.5364 0.4630 0.5067 0.5453 0.5204 0.5352 0.5540 0.6086 0.51 0.46 0.53 0.56 0.48 rs7893462 . . Benign not_specified RCV000247772.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5353 0.4493 0.5145 0.5386 0.5406 0.5321 0.5341 0.5515 0.6005 0.5055 0.4441 0.5108 0.5767 0.5492 0.5315 0.5266 0.5360 het 1058.68 74 10 28228865 . A G 1058.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.589;DP=74;Dels=0.00;FS=3.345;HRun=0;HaplotypeScore=1.9290;MQ=58.67;MQ0=0;MQRankSum=0.838;QD=14.31;ReadPosRankSum=0.827;VQSLOD=5.6969;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,46:74:99:1089,0,639 10 28378758 28378758 T C exonic MPP7 nonsynonymous SNV MPP7:NM_001318170:exon12:c.A965G:p.K322R,MPP7:NM_173496:exon14:c.A965G:p.K322R 0.93 0.95 0.95 0.96 0.88 0.92 0.9092 0.9481 0.9604 0.9548 0.9168 0.8849 0.9152 0.9200 0.9 0.95 0.88 0.95 0.79 rs2997211 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.213 P -2.77 0.000 N -1.51 0.814 D 1.56 0.007 N 0.109 0.129 -0.949 0.411 T 0.000 0.000 T . . . 1.720 0.268 14.52 0.881 0.172 0.207 0.209 N c -0.625 -0.275 1.000 0.747 0.638 0.428 0 5.79 0.917 5.859 0.691 0.016 0.142 1.000 0.715 0.997 0.653 15.105 0.719 SH3 domain . . 0.9091 0.9509 0.9563 0.8537 0.9563 0.9144 0.8839 0.9067 0.9186 0.9156 0.9520 0.9518 0.8907 0.9561 0.9167 0.8875 0.9246 hom 2306.15 67 10 28378758 . T C 2306.15 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7876;MQ=59.66;MQ0=0;QD=34.42;VQSLOD=9.7326;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2339,193,0 10 29812602 29812602 G T exonic SVIL synonymous SNV SVIL:NM_003174:exon13:c.C1663A:p.R555R,SVIL:NM_001323600:exon14:c.C1759A:p.R587R,SVIL:NM_021738:exon15:c.C2941A:p.R981R,SVIL:NM_001323599:exon16:c.C2011A:p.R671R 0.38 0.56 0.44 0.08 0.43 0.36 0.3909 0.5530 0.3785 0.0868 0.4371 0.4085 0.3767 0.3677 0.46 0.55 0.41 0.4 0.46 rs7070678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3862 0.5578 0.3797 0.3203 0.0869 0.4323 0.4113 0.3987 0.3700 0.4350 0.5623 0.4010 0.3311 0.0949 0.4249 0.4051 0.4192 het 1899.98 161 10 29812602 . G T 1899.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.174;DP=161;Dels=0.00;FS=8.024;HRun=0;HaplotypeScore=4.6519;MQ=59.57;MQ0=0;MQRankSum=0.768;QD=11.80;ReadPosRankSum=-0.331;VQSLOD=4.8211;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,69:161:99:1930,0,2334 10 29821089 29821089 C T exonic SVIL synonymous SNV SVIL:NM_021738:exon9:c.G1851A:p.V617V,SVIL:NM_001323599:exon10:c.G921A:p.V307V 0.29 0.33 0.36 0.076 0.39 0.28 0.3524 0.3471 0.2628 0.0832 0.4272 0.4081 0.3344 0.3058 0.39 0.34 0.41 0.25 0.43 rs17756919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3468 0.3430 0.2696 0.3241 0.0841 0.4232 0.4079 0.3577 0.3091 0.3701 0.3433 0.2907 0.3633 0.0903 0.4111 0.4095 0.3929 hom 2042.25 67 10 29821089 . C T 2042.25 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=57.68;MQ0=0;QD=30.48;VQSLOD=8.1953;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2075,168,0 10 29821523 29821523 T C exonic SVIL synonymous SNV SVIL:NM_021738:exon8:c.A1773G:p.K591K 0.3 0.34 0.38 0.076 0.42 0.28 0.3784 0.3538 0.2743 0.0834 0.4606 0.4464 0.3587 0.3149 0.41 0.35 0.44 0.26 0.48 rs1328323 COSM5619172 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3714 0.3492 0.2819 0.3564 0.0840 0.4539 0.4446 0.3823 0.3189 0.3932 0.3482 0.2962 0.3867 0.0903 0.4424 0.4443 0.4233 hom 2891.15 83 10 29821523 . T C 2891.15 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.78;MQ0=0;QD=34.83;VQSLOD=9.4758;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2924,229,0 10 29822159 29822159 T C exonic SVIL synonymous SNV SVIL:NM_021738:exon8:c.A1137G:p.L379L 0.31 0.35 0.39 0.082 0.43 0.32 0.3883 0.3635 0.2758 0.0914 0.4611 0.4494 0.3623 0.3632 0.42 0.36 0.45 0.27 0.49 rs7076239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3806 0.3578 0.2832 0.3598 0.0920 0.4544 0.4476 0.3898 0.3687 0.3975 0.3565 0.2967 0.3874 0.1004 0.4429 0.4464 0.4337 hom 4821.54 152 10 29822159 . T C 4821.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.687;DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7565;MQ=58.90;MQ0=0;MQRankSum=1.664;QD=31.72;ReadPosRankSum=0.957;VQSLOD=8.4680;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,151:152:99:4821,364,0 10 29839787 29839787 A G exonic SVIL nonsynonymous SNV SVIL:NM_021738:exon6:c.T566C:p.V189A,SVIL:NM_001323599:exon8:c.T566C:p.V189A,SVIL:NM_001323600:exon8:c.T566C:p.V189A,SVIL:NM_003174:exon8:c.T566C:p.V189A 0.31 0.42 0.27 0.35 0.24 0.21 0.2731 0.4073 0.3026 0.3392 0.3115 0.2553 0.2280 0.1920 0.31 0.42 0.26 0.27 0.31 rs10160013 COSM146920 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(large_intestine) . . . . . . . . . . . 0.767 0.034 T 0.0 0.026 B 0.0 0.013 B 0.408 0.046 N 1 0.090 P -1.7 0.004 N 1.03 0.405 T 0.69 0.041 N 0.034 0.014 -0.946 0.418 T 0.000 0.000 T . . . -1.402 0.019 0.003 0.432 0.032 0.056 0.114 N c -1.304 -1.310 0.107 0.166 0.707 0.730 0 -0.679 0.107 -0.423 0.070 -0.582 0.045 0.000 0.063 0.000 0.016 2.304 0.039 . ENSG00000197321.10 Cells_Transformed_fibroblasts 0.2715 0.4085 0.3035 0.1655 0.3365 0.3128 0.2566 0.2640 0.1915 0.3183 0.4075 0.3254 0.1722 0.3220 0.3111 0.2719 0.2920 hom 5405.65 180 10 29839787 . A G 5405.65 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.289;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3933;MQ=59.49;MQ0=0;MQRankSum=0.943;QD=30.03;ReadPosRankSum=0.885;VQSLOD=6.9845;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,179:180:99:5369,407,0 10 29839864 29839864 A C exonic SVIL synonymous SNV SVIL:NM_021738:exon6:c.T489G:p.A163A,SVIL:NM_001323599:exon8:c.T489G:p.A163A,SVIL:NM_001323600:exon8:c.T489G:p.A163A,SVIL:NM_003174:exon8:c.T489G:p.A163A 0.73 0.63 0.71 0.82 0.73 0.77 0.7360 0.6614 0.7225 0.8368 0.7816 0.7246 0.7269 0.7677 0.7 0.66 0.72 0.69 0.72 rs1270874 COSM5438349 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7353 0.6601 0.7230 0.6184 0.8310 0.7748 0.7295 0.7037 0.7679 0.7261 0.6584 0.7309 0.6159 0.8389 0.7825 0.7402 0.7561 hom 3894.08 132 10 29839864 . A C 3894.08 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0904;MQ=59.22;MQ0=0;QD=29.50;VQSLOD=7.9345;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:3893,328,0 10 29840038 29840038 A G exonic SVIL synonymous SNV SVIL:NM_021738:exon6:c.T315C:p.I105I,SVIL:NM_001323599:exon8:c.T315C:p.I105I,SVIL:NM_001323600:exon8:c.T315C:p.I105I,SVIL:NM_003174:exon8:c.T315C:p.I105I 0.32 0.42 0.27 0.35 0.24 0.29 0.2849 0.4081 0.3037 0.3385 0.3118 0.2576 0.2357 0.2679 0.32 0.42 0.26 0.28 0.31 rs3740003 COSM146922 1(breast);3(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2823 0.4090 0.3041 0.1662 0.3353 0.3132 0.2588 0.2695 0.2682 0.3196 0.4081 0.3266 0.1722 0.3176 0.3110 0.2740 0.3031 hom 7342.29 250 10 29840038 . A G 7342.29 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1340;MQ=59.70;MQ0=0;QD=29.37;VQSLOD=5.8788;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7341,599,0 10 29840164 29840164 A G exonic SVIL synonymous SNV SVIL:NM_021738:exon6:c.T189C:p.S63S,SVIL:NM_001323599:exon8:c.T189C:p.S63S,SVIL:NM_001323600:exon8:c.T189C:p.S63S,SVIL:NM_003174:exon8:c.T189C:p.S63S 0.26 0.23 0.24 0.35 0.24 0.21 0.2651 0.2573 0.2948 0.3388 0.3116 0.2585 0.2275 0.2135 0.26 0.26 0.26 0.22 0.29 rs3740002 COSM4419265 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2605 0.2494 0.2950 0.1663 0.3358 0.3126 0.2561 0.2603 0.1914 0.2725 0.2494 0.3091 0.1722 0.3212 0.3105 0.2708 0.2888 hom 2741.89 85 10 29840164 . A G 2741.89 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.569;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6779;MQ=59.73;MQ0=0;MQRankSum=1.284;QD=32.26;ReadPosRankSum=-1.569;VQSLOD=8.8589;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,84:85:99:2775,223,0 10 29843833 29843833 C T exonic SVIL synonymous SNV SVIL:NM_021738:exon5:c.G39A:p.G13G,SVIL:NM_001323599:exon7:c.G39A:p.G13G,SVIL:NM_001323600:exon7:c.G39A:p.G13G,SVIL:NM_003174:exon7:c.G39A:p.G13G 0.26 0.24 0.24 0.36 0.24 0.21 0.2600 0.2546 0.2942 0.3497 0.3103 0.2549 0.2249 0.1944 0.26 0.26 0.26 0.22 0.17 rs1547169 COSM4417419 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2608 0.2499 0.2938 0.1658 0.3488 0.3122 0.2559 0.2604 0.1921 0.2736 0.2487 0.3091 0.1722 0.3385 0.3107 0.2713 0.2898 hom 2010.93 63 10 29843833 . C T 2010.93 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=59.04;MQ0=0;QD=31.92;VQSLOD=9.8942;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2044,165,0 10 30316072 30316072 C G exonic JCAD nonsynonymous SNV JCAD:NM_020848:exon3:c.G3005C:p.S1002T,JCAD:NM_001350001:exon4:c.G2591C:p.S864T,JCAD:NM_001350021:exon4:c.G2591C:p.S864T,JCAD:NM_001350022:exon4:c.G3005C:p.S1002T 0.25 0.06 0.45 0.18 0.42 0.27 0.3692 0.1183 0.4208 0.1731 0.4560 0.4286 0.4156 0.3071 0.33 0.12 0.42 0.24 0.34 rs3739998 COSM3751709 1(large_intestine) . . . . . Coronary heart disease 0.87 . 21088011 rs3739998 1E-11 0.892 0.025 T 0.058 0.215 B 0.025 0.193 B 0.198 0.033 N 1 0.090 P 1.7 0.440 L 2.71 0.121 T -0.66 0.191 N 0.029 0.010 -0.914 0.464 T 0.000 0.000 T . . . -0.271 0.071 0.774 0.762 0.110 0.037 0.088 N c -1.122 -1.183 1.000 0.747 0.731 0.878 0 -0.722 0.106 0.153 0.160 -1.055 0.020 0.000 0.063 0.000 0.016 0.969 0.013 . ENSG00000165757.8 Artery_Aorta 0.3773 0.1092 0.4277 0.3245 0.1709 0.4526 0.4365 0.4137 0.3123 0.3345 0.1158 0.4318 0.3245 0.1669 0.4542 0.4421 0.4084 het 2199.48 211 10 30316072 . C G 2199.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.910;DP=211;Dels=0.00;FS=4.871;HRun=0;HaplotypeScore=3.9821;MQ=58.89;MQ0=0;MQRankSum=2.162;QD=10.42;ReadPosRankSum=1.426;VQSLOD=4.5014;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:122,89:211:99:2229,0,3242 10 30316208 30316208 T C exonic JCAD nonsynonymous SNV JCAD:NM_020848:exon3:c.A2869G:p.R957G,JCAD:NM_001350001:exon4:c.A2455G:p.R819G,JCAD:NM_001350021:exon4:c.A2455G:p.R819G,JCAD:NM_001350022:exon4:c.A2869G:p.R957G 0.34 0.37 0.3 0.3 0.43 0.26 0.3733 0.3781 0.3034 0.2595 0.4083 0.4227 0.3656 0.2657 0.41 0.38 0.42 0.4 0.45 rs2185724 . . . . . . . . . . . . . 0.259 0.166 T 0.01 0.144 B 0.009 0.133 B 0.736 0.098 N 1 0.090 P 0.47 0.131 N 2.6 0.132 T -1.31 0.328 N 0.031 0.012 -0.954 0.403 T 0.000 0.000 T . . . -0.914 0.035 0.024 0.764 0.111 0.019 0.058 N c -1.601 -1.729 1.0 0.983 0.731 0.878 0 -11.2 0.001 -0.362 0.076 0.993 0.603 0.000 0.063 0.003 0.074 5.851 0.178 . ENSG00000165757.8 Artery_Aorta 0.3715 0.3819 0.3035 0.4779 0.2590 0.4131 0.4179 0.3921 0.2678 0.3952 0.3824 0.3194 0.4967 0.2556 0.4115 0.4161 0.3965 het 3050.36 194 10 30316208 . T C 3050.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.149;DP=194;Dels=0.00;FS=3.282;HRun=1;HaplotypeScore=3.1976;MQ=59.38;MQ0=0;MQRankSum=0.561;QD=15.72;ReadPosRankSum=-0.810;VQSLOD=6.0099;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,106:194:99:3080,0,2346 10 30317073 30317073 G A exonic JCAD synonymous SNV JCAD:NM_020848:exon3:c.C2004T:p.H668H,JCAD:NM_001350001:exon4:c.C1590T:p.H530H,JCAD:NM_001350021:exon4:c.C1590T:p.H530H,JCAD:NM_001350022:exon4:c.C2004T:p.H668H 0.15 0.023 0.26 0.023 0.35 0.17 0.2678 0.0708 0.1887 0.0141 0.3648 0.3485 0.3256 0.2047 0.25 0.068 0.34 0.15 0.25 rs9337951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2687 0.0636 0.2015 0.2727 0.0143 0.3560 0.3524 0.3058 0.2117 0.2493 0.0691 0.2208 0.2748 0.0148 0.3614 0.3507 0.3119 het 1062.34 97 10 30317073 . G A 1062.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.304;DP=97;Dels=0.00;FS=0.773;HRun=0;HaplotypeScore=0.8941;MQ=59.76;MQ0=0;MQRankSum=-0.426;QD=10.95;ReadPosRankSum=-0.164;VQSLOD=6.6463;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,42:97:99:1092,0,1693 10 30317826 30317826 A G exonic JCAD synonymous SNV JCAD:NM_020848:exon3:c.T1251C:p.Y417Y,JCAD:NM_001350001:exon4:c.T837C:p.Y279Y,JCAD:NM_001350021:exon4:c.T837C:p.Y279Y,JCAD:NM_001350022:exon4:c.T1251C:p.Y417Y 0.53 0.91 0.38 0.34 0.48 0.37 0.4621 0.8453 0.3516 0.3047 0.4573 0.4680 0.4322 0.3743 0.59 0.84 0.48 0.61 0.53 rs7920682 COSM3997938 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4531 0.8560 0.3539 0.5148 0.3040 0.4622 0.4657 0.4523 0.3732 0.5574 0.8441 0.3696 0.5367 0.2893 0.4616 0.4602 0.4566 het 1685.87 198 10 30317826 . A G 1685.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.041;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0213;MQ=59.20;MQ0=0;MQRankSum=0.435;QD=8.51;ReadPosRankSum=-1.396;VQSLOD=5.5877;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:122,76:198:99:1716,0,3194 10 30317838 30317838 A G exonic JCAD synonymous SNV JCAD:NM_020848:exon3:c.T1239C:p.P413P,JCAD:NM_001350001:exon4:c.T825C:p.P275P,JCAD:NM_001350021:exon4:c.T825C:p.P275P,JCAD:NM_001350022:exon4:c.T1239C:p.P413P 0.52 0.87 0.38 0.34 0.48 0.39 0.4594 0.8166 0.3503 0.3046 0.4575 0.4679 0.4265 0.3743 0.59 0.82 0.48 0.6 0.53 rs7920686 COSM3997939 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4509 0.8289 0.3519 0.5146 0.3040 0.4620 0.4655 0.4507 0.3730 0.5508 0.8210 0.3681 0.5364 0.2895 0.4616 0.4599 0.4554 het 1602.70 192 10 30317838 . A G 1602.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.901;DP=192;Dels=0.00;FS=1.903;HRun=2;HaplotypeScore=8.9111;MQ=59.17;MQ0=0;MQRankSum=-0.219;QD=8.35;ReadPosRankSum=0.452;VQSLOD=3.6635;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:124,68:192:99:1633,0,3297 10 30317949 30317949 C T exonic JCAD synonymous SNV JCAD:NM_020848:exon3:c.G1128A:p.P376P,JCAD:NM_001350001:exon4:c.G714A:p.P238P,JCAD:NM_001350021:exon4:c.G714A:p.P238P,JCAD:NM_001350022:exon4:c.G1128A:p.P376P 0.26 0.06 0.45 0.19 0.43 0.27 0.3759 0.1179 0.4228 0.1902 0.4679 0.4355 0.4222 0.3124 0.32 0.12 0.42 0.24 0.33 rs2478835 COSM3751710 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3836 0.1090 0.4301 0.3314 0.1872 0.4641 0.4426 0.4166 0.3176 0.3404 0.1144 0.4400 0.3267 0.1832 0.4705 0.4485 0.4184 het 2551.38 170 10 30317949 . C T 2551.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.382;DP=170;Dels=0.00;FS=1.991;HRun=1;HaplotypeScore=4.3102;MQ=58.78;MQ0=0;MQRankSum=0.122;QD=15.01;ReadPosRankSum=-0.217;VQSLOD=5.7374;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,95:170:99:2581,0,1903 10 30629226 30629226 G A exonic MTPAP nonsynonymous SNV MTPAP:NM_018109:exon3:c.C484T:p.R162C 0.22 0.19 0.12 0.21 0.25 0.3 0.2500 0.2115 0.1119 0.2267 0.2167 0.2806 0.25 0.2731 0.26 0.21 0.29 0.25 0.3 rs1047991 COSM3751711;COSM3751712 1(large_intestine) other not_specified RCV000117635.4 MedGen CN169374 . . . . . . 0.069 0.355 T 0.001 0.179 B 0.001 0.093 B 0.001 0.008 N 1 0.090 P -0.255 0.038 N 2.02 0.453 T -0.64 0.232 N 0.023 0.034 -1.054 0.132 T 0.000 0.000 T . . . -1.202 0.025 0.006 0.602 0.062 0.022 0.063 N c -2.562 -2.647 1.000 0.747 0.719 0.830 0 -10.2 0.003 -2.887 0.008 -1.218 0.015 0.000 0.063 0.000 0.016 5.521 0.161 . . . 0.2462 0.2160 0.1276 0.3260 0.2289 0.2180 0.2808 0.2358 0.2715 0.2412 0.2178 0.1396 0.2914 0.2304 0.2226 0.2661 0.2224 het 1143.66 106 10 30629226 . G A 1143.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.854;DP=106;Dels=0.00;FS=1.635;HRun=0;HaplotypeScore=2.8311;MQ=59.78;MQ0=0;MQRankSum=-0.232;QD=10.79;ReadPosRankSum=1.171;VQSLOD=6.2175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,43:106:99:1174,0,1571 10 30728101 30728101 T C exonic MAP3K8 synonymous SNV MAP3K8:NM_001244134:exon2:c.T234C:p.Y78Y,MAP3K8:NM_001320961:exon2:c.T234C:p.Y78Y,MAP3K8:NM_005204:exon3:c.T234C:p.Y78Y 0.35 0.098 0.52 0.35 0.6 0.33 0.5028 0.1525 0.5334 0.3704 0.6038 0.5973 0.4879 0.3500 0.45 0.16 0.6 0.28 0.61 rs1042058 COSM3751713;COSM3751714 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . Inflammatory bowel disease 1.08 . 23128233 rs1042058 6E-11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5145 0.1460 0.5390 0.5236 0.3669 0.6079 0.6034 0.5463 0.3550 0.4712 0.1597 0.5394 0.4901 0.3817 0.6132 0.6187 0.5673 het 1643.55 131 10 30728101 . T C 1643.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.639;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4413;MQ=59.54;MQ0=0;MQRankSum=-1.851;QD=12.55;ReadPosRankSum=2.639;VQSLOD=4.5147;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,62:131:99:1674,0,1831 10 30901756 30901756 G A exonic LYZL2 synonymous SNV LYZL2:NM_183058:exon4:c.C510T:p.N170N 0.37 0.35 0.41 0.26 0.55 0.29 0.4826 0.3936 0.4198 0.2644 0.6710 0.5545 0.5341 0.3279 0.51 0.41 0.56 0.36 0.53 rs9954 COSM3997945 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4854 0.3963 0.4209 0.4827 0.2669 0.6688 0.5554 0.5152 0.3316 0.5155 0.4055 0.4272 0.4628 0.2778 0.6671 0.5735 0.5479 hom 2587.67 85 10 30901756 . G A 2587.67 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=58.30;MQ0=0;QD=30.44;VQSLOD=7.7103;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:85:99:2621,202,0 10 31138817 31138817 G A exonic ZNF438 nonsynonymous SNV ZNF438:NM_001143767:exon5:c.C517T:p.P173S,ZNF438:NM_001143768:exon6:c.C517T:p.P173S,ZNF438:NM_001143766:exon7:c.C517T:p.P173S,ZNF438:NM_001143769:exon7:c.C370T:p.P124S,ZNF438:NM_001143771:exon7:c.C487T:p.P163S,ZNF438:NM_182755:exon7:c.C517T:p.P173S,ZNF438:NM_001143770:exon8:c.C487T:p.P163S 0.38 0.33 0.43 0.4 0.35 0.41 0.4014 0.3245 0.5349 0.3782 0.4964 0.3843 0.3756 0.4013 0.36 0.33 0.38 0.3 0.39 rs10160116 COSM4416498;COSM3751715 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.896 0.026 T 0.031 0.211 B 0.009 0.176 B 0.474 0.122 N 1 0.090 P 1.735 0.450 L 3.02 0.090 T 0.04 0.075 N 0.048 0.101 -0.923 0.451 T 0.000 0.000 T . . . -0.745 0.043 0.057 0.214 0.008 0.105 0.158 N c -0.953 -0.959 0.079 0.158 0.707 0.730 0 1.18 0.200 0.028 0.134 0.098 0.198 0.000 0.063 0.219 0.221 2.587 0.045 . ENSG00000237135.1|ENSG00000183621.11|ENSG00000237135.1|ENSG00000237135.1 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Thyroid 0.4092 0.3290 0.5189 0.3286 0.3725 0.4937 0.3857 0.3816 0.4027 0.3964 0.3367 0.4964 0.3233 0.3801 0.4920 0.4041 0.4325 hom 6414.43 208 10 31138817 . G A 6414.43 Mask AC=2;AF=1.00;AN=2;DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.43;MQ0=0;QD=30.84;VQSLOD=8.9841;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:208:99:6414,521,0 10 31810679 31810679 A G exonic ZEB1 nonsynonymous SNV ZEB1:NM_001323674:exon5:c.A2194G:p.T732A,ZEB1:NM_001323675:exon5:c.A2152G:p.T718A,ZEB1:NM_001323678:exon5:c.A2143G:p.T715A,ZEB1:NM_001174093:exon6:c.A2356G:p.T786A,ZEB1:NM_001174095:exon6:c.A2215G:p.T739A,ZEB1:NM_001323644:exon6:c.A1762G:p.T588A,ZEB1:NM_001128128:exon7:c.A2368G:p.T790A,ZEB1:NM_001174094:exon7:c.A2365G:p.T789A,ZEB1:NM_001174096:exon7:c.A2419G:p.T807A,ZEB1:NM_001323641:exon7:c.A1762G:p.T588A,ZEB1:NM_001323648:exon7:c.A1762G:p.T588A,ZEB1:NM_001323656:exon7:c.A1762G:p.T588A,ZEB1:NM_001323657:exon7:c.A1762G:p.T588A,ZEB1:NM_001323658:exon7:c.A1762G:p.T588A,ZEB1:NM_001323659:exon7:c.A1762G:p.T588A,ZEB1:NM_001323660:exon7:c.A1762G:p.T588A,ZEB1:NM_001323666:exon7:c.A1762G:p.T588A,ZEB1:NM_001323676:exon7:c.A2377G:p.T793A,ZEB1:NM_001323677:exon7:c.A2374G:p.T792A,ZEB1:NM_030751:exon7:c.A2416G:p.T806A,ZEB1:NM_001323645:exon8:c.A1762G:p.T588A,ZEB1:NM_001323647:exon8:c.A1762G:p.T588A,ZEB1:NM_001323649:exon8:c.A1762G:p.T588A,ZEB1:NM_001323651:exon8:c.A1762G:p.T588A,ZEB1:NM_001323661:exon8:c.A1762G:p.T588A,ZEB1:NM_001323665:exon8:c.A1762G:p.T588A,ZEB1:NM_001323671:exon8:c.A1762G:p.T588A,ZEB1:NM_001323673:exon8:c.A1762G:p.T588A,ZEB1:NM_001323642:exon9:c.A1762G:p.T588A,ZEB1:NM_001323643:exon9:c.A1762G:p.T588A,ZEB1:NM_001323652:exon9:c.A1762G:p.T588A,ZEB1:NM_001323653:exon9:c.A1762G:p.T588A,ZEB1:NM_001323654:exon9:c.A1762G:p.T588A,ZEB1:NM_001323655:exon9:c.A1762G:p.T588A,ZEB1:NM_001323662:exon9:c.A1762G:p.T588A,ZEB1:NM_001323664:exon9:c.A1762G:p.T588A,ZEB1:NM_001323672:exon9:c.A1762G:p.T588A,ZEB1:NM_001323646:exon10:c.A1762G:p.T588A,ZEB1:NM_001323650:exon10:c.A1762G:p.T588A,ZEB1:NM_001323663:exon10:c.A1762G:p.T588A,ZEB1:NM_001323638:exon11:c.A1762G:p.T588A 0.0012 . 0.0029 . 0.002 0.002 0.0025 9.619e-05 0.0015 0 0.0005 0.0034 0.0022 0.0031 0.0016 . 0.0024 . . rs141194628 . . . . . . . . . . . . . 0.3 0.151 T 0.067 0.670 B 0.051 0.759 B 0.000 0.629 D 1.000 0.475 D 1.7 0.440 L 2.82 0.109 T -0.65 0.204 N 0.168 0.213 -1.168 0.006 T 0.063 0.262 T 0.008 0.213 T 0.047 0.098 3.050 0.880 0.171 0.691 0.338 D c 0.074 0.077 1.000 0.448 0.707 0.730 0 3.19 0.356 2.249 0.426 0.144 0.231 0.998 0.411 0.997 0.653 10.307 0.427 . . . 0.0022 0.0003 0.0017 0.0011 0 0.0010 0.0032 0.0016 0.0028 0.0021 0.0002 0.0024 0 0 0.0003 0.0037 0.0051 het 1072.36 87 10 31810679 . A G 1072.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.602;DP=87;Dels=0.00;FS=7.124;HRun=0;HaplotypeScore=1.6828;MQ=58.93;MQ0=0;MQRankSum=1.172;QD=12.33;ReadPosRankSum=0.425;VQSLOD=3.4421;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,37:87:99:1102,0,1407 10 32120678 32120678 C T exonic ARHGAP12 synonymous SNV ARHGAP12:NM_001270699:exon6:c.G1281A:p.G427G,ARHGAP12:NM_001270698:exon7:c.G1206A:p.G402G,ARHGAP12:NM_001270696:exon8:c.G1347A:p.G449G,ARHGAP12:NM_001270695:exon9:c.G1422A:p.G474G,ARHGAP12:NM_001270697:exon9:c.G1296A:p.G432G,ARHGAP12:NM_018287:exon10:c.G1437A:p.G479G 0.24 0.091 0.3 0.41 0.2 0.27 0.2242 0.1223 0.2551 0.3794 0.1574 0.2107 0.2311 0.2605 0.17 0.11 0.2 0.26 0.074 rs2808100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2175 0.1125 0.2477 0.2226 0.3655 0.1552 0.2039 0.2197 0.2498 0.1875 0.1206 0.2410 0.2219 0.3948 0.1613 0.2054 0.2059 het 827.48 84 10 32120678 . C T 827.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.406;DP=84;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=2.6711;MQ=59.11;MQ0=0;MQRankSum=1.955;QD=9.85;ReadPosRankSum=-0.423;VQSLOD=5.3432;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,37:84:99:857,0,1230 10 32128611 32128611 A G exonic ARHGAP12 nonsynonymous SNV ARHGAP12:NM_001270699:exon5:c.T1184C:p.F395S,ARHGAP12:NM_001270697:exon7:c.T1184C:p.F395S,ARHGAP12:NM_001270695:exon8:c.T1325C:p.F442S,ARHGAP12:NM_018287:exon8:c.T1325C:p.F442S 0.23 0.054 0.3 0.41 0.2 0.27 0.2179 0.0801 0.2525 0.3817 0.1552 0.2084 0.2214 0.2579 0.17 0.084 0.21 0.25 0.14 rs2808096 COSM5001932;COSM5001931 1(pancreas) . . . . . . . . . . . 0.423 0.097 T 0.0 0.026 B 0.001 0.040 B 0.002 0.384 N 0.855 0.588 P 0.46 0.130 N 1.33 0.350 T 0.39 0.098 N 0.044 0.245 -0.906 0.473 T 0.000 0.000 T . . . 1.876 0.286 15.44 0.965 0.296 0.785 0.385 D c -0.473 -0.266 0.381 0.200 0.706 0.609 0 3.15 0.351 2.048 0.407 1.199 0.960 1.000 0.715 1.000 0.888 6.421 0.208 . ENSG00000170759.10 Testis 0.2210 0.0796 0.2544 0.2281 0.3736 0.1564 0.2085 0.2262 0.2587 0.1767 0.0833 0.2404 0.2219 0.3953 0.1602 0.2050 0.2039 het 476.18 56 10 32128611 . A G 476.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.811;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8332;MQ=58.80;MQ0=0;MQRankSum=-0.812;QD=8.50;ReadPosRankSum=-0.372;VQSLOD=5.7694;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,21:56:99:506,0,865 10 32141460 32141460 T C exonic ARHGAP12 synonymous SNV ARHGAP12:NM_001270699:exon3:c.A1014G:p.E338E,ARHGAP12:NM_001270697:exon5:c.A1014G:p.E338E,ARHGAP12:NM_001270698:exon5:c.A1014G:p.E338E,ARHGAP12:NM_001270695:exon6:c.A1155G:p.E385E,ARHGAP12:NM_001270696:exon6:c.A1155G:p.E385E,ARHGAP12:NM_018287:exon6:c.A1155G:p.E385E 0.23 0.054 0.3 0.41 0.2 0.27 0.2176 0.0799 0.2520 0.3841 0.1550 0.2078 0.2214 0.2576 0.17 0.084 0.21 0.25 0.11 rs2799021 COSM4144654;COSM4144655 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2222 0.0804 0.2564 0.2286 0.3775 0.1574 0.2092 0.2269 0.2593 0.1763 0.0835 0.2392 0.2219 0.3943 0.1602 0.2043 0.2026 het 1883.60 167 10 32141460 . T C 1883.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.063;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9853;MQ=58.69;MQ0=0;MQRankSum=0.597;QD=11.28;ReadPosRankSum=-0.085;VQSLOD=5.0517;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:84,83:167:99:1914,0,1894 10 32143044 32143044 A G exonic ARHGAP12 synonymous SNV ARHGAP12:NM_001270695:exon5:c.T1039C:p.L347L,ARHGAP12:NM_001270696:exon5:c.T1039C:p.L347L,ARHGAP12:NM_018287:exon5:c.T1039C:p.L347L 0.0088 0.0015 0.0072 . 0.026 0.011 0.0180 0.0050 0.0063 0.0007 0.0296 0.0241 0.0220 0.0142 0.019 0.007 0.025 . 0.0082 rs41289019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0182 0.0041 0.0054 0.0139 0.0008 0.0324 0.0253 0.0181 0.0146 0.0167 0.0036 0.0036 0.0166 0 0.0324 0.0231 0.0194 het 1515.39 123 10 32143044 . A G 1515.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.805;DP=123;Dels=0.00;FS=4.406;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=1.112;QD=12.32;ReadPosRankSum=0.553;VQSLOD=5.7929;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,63:123:99:1545,0,1437 10 32745248 32745248 A C exonic CCDC7 nonsynonymous SNV CCDC7:NM_001026383:exon4:c.A442C:p.K148Q,CCDC7:NM_001321115:exon4:c.A442C:p.K148Q,CCDC7:NM_145023:exon4:c.A442C:p.K148Q 0.14 0.0038 0.23 0.17 0.087 0.29 0.1214 0.0197 0.2373 0.1639 0.0951 0.0843 0.0991 0.2433 0.062 0.02 0.084 0.098 0.09 rs56391924 COSM3751738 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.159 0.266 T 0.496 0.410 P 0.269 0.424 B . . . 1 0.090 P 2.255 0.644 M 0.13 0.610 T -1.87 0.589 N 0.106 0.334 -1.099 0.043 T 0.000 0.001 T . . . 3.336 0.460 22.9 0.983 0.394 0.260 0.226 N c -0.326 -0.368 0.000 0.056 0.615 0.372 0 2.44 0.287 0.961 0.287 0.889 0.393 0.999 0.424 0.791 0.333 4.545 0.114 . . . 0.1252 0.0184 0.2288 0.0741 0.1659 0.0993 0.0825 0.1110 0.2387 0.0740 0.0166 0.2255 0.0795 0.1743 0.1016 0.0796 0.1041 het 2052.37 152 10 32745248 . A C 2052.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.041;DP=152;Dels=0.00;FS=4.938;HRun=0;HaplotypeScore=4.6294;MQ=58.69;MQ0=0;MQRankSum=0.475;QD=13.50;ReadPosRankSum=0.594;VQSLOD=4.8889;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,85:152:99:2082,0,1725 10 32856746 32856746 A C exonic CCDC7 nonsynonymous SNV CCDC7:NM_001026383:exon16:c.A1346C:p.K449T,CCDC7:NM_001321115:exon16:c.A1346C:p.K449T,CCDC7:NM_145023:exon16:c.A1346C:p.K449T 0.17 0.089 0.24 0.17 0.087 0.29 0.1282 0.0899 0.2399 0.1662 0.0953 0.0849 0.1004 0.2427 0.084 0.082 0.084 0.12 0.098 rs12268559 COSM3751741;COSM5826697 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.122 0.357 T 0.356 0.320 B 0.082 0.276 B . . . 1.000 0.090 P 0.895 0.225 L 0.94 0.588 T -2.18 0.789 N 0.112 0.432 -1.090 0.056 T 0.000 0.001 T . . . 0.020 0.095 2.779 0.971 0.318 0.029 0.076 N c -0.821 -0.881 0.000 0.012 0.554 0.246 0 1.37 0.211 0.114 0.152 0.108 0.203 0.005 0.169 0.034 0.151 4.314 0.103 . . . 0.1317 0.0880 0.2339 0.0751 0.1696 0.0996 0.0832 0.1153 0.2399 0.0927 0.0814 0.2344 0.0795 0.1747 0.1019 0.0799 0.1049 het 1053.05 89 10 32856746 . A C 1053.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.489;DP=89;Dels=0.00;FS=3.993;HRun=0;HaplotypeScore=1.8401;MQ=58.85;MQ0=0;MQRankSum=0.556;QD=11.83;ReadPosRankSum=-0.731;VQSLOD=5.8264;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,42:89:99:1083,0,1185 10 32974969 32974969 A G exonic CCDC7 nonsynonymous SNV CCDC7:NM_001321115:exon23:c.A2194G:p.I732V 0.92 0.71 0.95 1. 1. 1. 0.9762 0.7471 0.9878 1 1 0.9986 0.9879 0.9992 0.91 0.74 1. 0.88 0.87 rs1762526 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.04 0.011 N 1.69 0.272 T 0.42 0.034 N 0.03 0.018 -0.967 0.379 T 0.000 0.000 T . . . -3.050 0.001 0.001 0.215 0.008 0.000 0.001 N c -1.821 -1.785 0.000 0.029 0.554 0.246 0 -1.15 0.092 -0.196 0.095 -0.147 0.109 0.000 0.063 0.012 0.117 0.524 0.006 . . . 0.9796 0.7348 0.9835 0.9988 1 0.9999 0.9984 0.9877 0.9990 0.9263 0.7437 0.9833 0.9967 1 1 0.9991 0.9807 hom 1834.04 68 10 32974969 . A G 1834.04 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.97;VQSLOD=13.9507;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1867,135,0 10 33018351 33018351 G C exonic CCDC7 synonymous SNV CCDC7:NM_001321115:exon29:c.G2871C:p.T957T 0.92 0.71 0.95 1. 1. 1. 0.9769 0.7460 0.9877 1 1 0.9986 0.9878 0.9994 0.91 0.75 1. 0.88 0.77 rs1414548 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9800 0.7333 0.9842 0.9987 1 0.9999 0.9985 0.9875 0.9992 0.9262 0.7436 0.9833 0.9967 1 1 0.9991 0.9806 hom 933.44 32 10 33018351 . G C 933.44 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=29.17;VQSLOD=8.8740;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:72.23:966,72,0 10 33123774 33123774 T C exonic CCDC7 synonymous SNV CCDC7:NM_001321115:exon34:c.T3300C:p.N1100N 0.22 0.021 0.31 0.096 0.46 0.29 0.4218 0.1040 0.3812 0.0904 0.5104 0.5241 0.4460 0.3536 0.35 0.1 0.48 0.2 0.21 rs11009107 COSM3751742;COSM3751743 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3897 0.0790 0.3489 0.4539 0.0803 0.4970 0.4850 0.3968 0.3218 0.3539 0.0923 0.3373 0.4437 0.0761 0.4877 0.4976 0.4568 het 160 21 10 33123774 . T C 160 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.675;DP=21;Dels=0.00;FS=4.010;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=0.320;QD=7.62;ReadPosRankSum=-1.102;VQSLOD=5.2174;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,9:21:99:190,0,341 10 33123824 33123824 G C exonic CCDC7 nonsynonymous SNV CCDC7:NM_001321115:exon34:c.G3350C:p.G1117A 0.98 0.94 0.99 1. 1. 1. 0.9948 0.9436 0.9969 1 1 0.9998 1 1 0.98 0.95 1. 0.97 0.49 rs4448627 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P -1.1 0.010 N 1.28 0.360 T 1.79 0.005 N 0.014 0.002 -1.002 0.293 T 0.000 0.000 T . . . -2.314 0.005 0.001 0.076 0.000 0.000 0.002 N c -1.607 -1.640 0.000 0.058 0.487 0.133 0 -0.987 0.097 -1.529 0.023 -0.729 0.036 0.000 0.063 0.001 0.043 4.126 0.095 . . . 0.9958 0.9414 0.9964 1 1 1 0.9999 0.9981 1.0000 0.9850 0.9485 0.9928 1 1 1 0.9998 0.9959 hom 863.01 26 10 33123824 . G C 863.01 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.29;MQ0=0;QD=33.19;VQSLOD=8.5369;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:69.22:896,69,0 10 33137551 33137551 T C exonic CCDC7 nonsynonymous SNV CCDC7:NM_001321115:exon40:c.T3800C:p.M1267T 0.22 0.023 0.31 0.095 0.46 0.3 0.3911 0.0939 0.3632 0.0754 0.4917 0.4876 0.4193 0.3285 0.35 0.11 0.48 0.2 0.36 rs2504011 . . . . . . . . . . . . . 0.336 0.129 T 0.408 0.378 B 0.119 0.342 B . . . 1 0.090 P 1.5 0.380 L 1.69 0.270 T -3.07 0.632 D 0.141 0.175 -0.942 0.424 T 0.000 0.000 T . . . -0.978 0.033 0.018 0.320 0.018 0.007 0.029 N c -0.996 -1.176 0.000 0.065 0.554 0.246 0 -3.16 0.049 -1.368 0.027 0.839 0.342 0.000 0.063 0.244 0.227 0.751 0.009 . ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000216937.7|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000273038.1|ENSG00000216937.7|ENSG00000273038.1|ENSG00000273038.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Whole_Blood 0.3948 0.0852 0.3563 0.4572 0.0799 0.4972 0.4891 0.4049 0.3296 0.3545 0.0957 0.3381 0.4437 0.0734 0.4877 0.4971 0.4571 het 1740.86 145 10 33137551 . T C 1740.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.348;DP=145;Dels=0.00;FS=3.963;HRun=0;HaplotypeScore=3.3954;MQ=59.04;MQ0=0;MQRankSum=0.469;QD=12.01;ReadPosRankSum=-0.655;VQSLOD=5.8987;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,70:145:99:1771,0,1868 10 33143396 33143396 G A exonic CCDC7 nonsynonymous SNV CCDC7:NM_001321115:exon42:c.G4090A:p.V1364I 0.98 0.94 0.99 1. 1. 1. 0.9948 0.9443 0.9969 1 1 0.9998 1 1 0.98 0.95 1. 0.97 0.84 rs1418538 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.55 0.024 N 1.62 0.284 T 0.4 0.035 N 0.011 0.014 -0.995 0.312 T 0.000 0.000 T . . . -2.884 0.002 0.001 0.100 0.001 0.001 0.008 N c -2.177 -2.255 1.000 0.747 0.487 0.133 0 -6.95 0.015 -1.720 0.020 -0.325 0.076 0.000 0.063 0.000 0.016 2.526 0.044 . . . 0.9958 0.9421 0.9966 1 1 1 0.9999 0.9978 0.9999 0.9848 0.9475 0.9928 1 1 1 0.9998 0.9959 hom 1802.59 64 10 33143396 . G A 1802.59 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.28;MQ0=0;QD=28.17;VQSLOD=8.3175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1836,141,0 10 33209266 33209266 G T exonic ITGB1 synonymous SNV ITGB1:NM_033668:exon9:c.C1176A:p.G392G,ITGB1:NM_002211:exon10:c.C1176A:p.G392G,ITGB1:NM_133376:exon10:c.C1176A:p.G392G 0.78 0.66 0.9 0.69 0.88 0.87 0.8581 0.6855 0.9149 0.6762 0.8738 0.8932 0.8855 0.8726 0.83 0.68 0.9 0.76 0.85 rs2230396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8616 0.6749 0.9072 0.9041 0.6784 0.8742 0.8924 0.8742 0.8705 0.8236 0.6832 0.9019 0.8808 0.6764 0.8751 0.9014 0.8582 hom 2806.83 97 10 33209266 . G T 2806.83 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7219;MQ=59.76;MQ0=0;QD=28.94;VQSLOD=8.4844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2840,217,0 10 33469181 33469181 A G exonic NRP1 synonymous SNV NRP1:NM_001330068:exon16:c.T2544C:p.S848S,NRP1:NM_001244972:exon17:c.T2577C:p.S859S,NRP1:NM_001244973:exon17:c.T2574C:p.S858S,NRP1:NM_003873:exon17:c.T2595C:p.S865S 0.42 0.57 0.21 0.62 0.25 0.37 0.2981 0.5264 0.1318 0.6554 0.1856 0.2429 0.3040 0.3518 0.33 0.5 0.24 0.48 0.2 rs1048804 COSM146924 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2836 0.5342 0.1377 0.2636 0.6410 0.1832 0.2425 0.2704 0.3483 0.3355 0.5249 0.1787 0.2550 0.6480 0.1880 0.2432 0.2382 het 1959.07 187 10 33469181 . A G 1959.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.094;DP=187;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=2.8994;MQ=59.33;MQ0=0;MQRankSum=-0.296;QD=10.48;ReadPosRankSum=0.899;VQSLOD=6.1146;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,79:187:99:1989,0,2906 10 33510663 33510663 G A exonic NRP1 synonymous SNV NRP1:NM_001024628:exon8:c.C1266T:p.Y422Y,NRP1:NM_001024629:exon8:c.C1266T:p.Y422Y,NRP1:NM_001244972:exon8:c.C1266T:p.Y422Y,NRP1:NM_001244973:exon8:c.C1266T:p.Y422Y,NRP1:NM_001330068:exon8:c.C1266T:p.Y422Y,NRP1:NM_003873:exon8:c.C1266T:p.Y422Y 0.36 0.18 0.43 0.62 0.25 0.39 0.3142 0.2119 0.4303 0.6445 0.2715 0.2662 0.2974 0.3368 0.25 0.21 0.27 0.33 0.29 rs2229935 COSM3751754;COSM3751753;COSM3751751;COSM3751752 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3216 0.2130 0.4280 0.2892 0.6385 0.2705 0.2652 0.3001 0.3378 0.2782 0.2030 0.4272 0.24 0.6362 0.2856 0.2734 0.2912 het 1678.26 143 10 33510663 . G A 1678.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.219;DP=143;Dels=0.00;FS=0.642;HRun=0;HaplotypeScore=0.9995;MQ=59.38;MQ0=0;MQRankSum=-0.420;QD=11.74;ReadPosRankSum=-1.196;VQSLOD=6.4957;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,64:143:99:1708,0,1919 10 33510768 33510768 G A exonic NRP1 synonymous SNV NRP1:NM_001024628:exon8:c.C1161T:p.P387P,NRP1:NM_001024629:exon8:c.C1161T:p.P387P,NRP1:NM_001244972:exon8:c.C1161T:p.P387P,NRP1:NM_001244973:exon8:c.C1161T:p.P387P,NRP1:NM_001330068:exon8:c.C1161T:p.P387P,NRP1:NM_003873:exon8:c.C1161T:p.P387P 0.36 0.18 0.43 0.62 0.25 0.39 0.3142 0.2121 0.4304 0.6450 0.2713 0.2661 0.2974 0.3368 0.25 0.21 0.27 0.33 0.29 rs2229934 COSM3751756;COSM3751755;COSM3751757;COSM3751758 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3216 0.2130 0.4280 0.2892 0.6385 0.2704 0.2651 0.3001 0.3378 0.2780 0.2025 0.4272 0.2384 0.6389 0.2856 0.2732 0.2910 het 1601.25 134 10 33510768 . G A 1601.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.731;DP=134;Dels=0.00;FS=1.438;HRun=0;HaplotypeScore=11.2390;MQ=58.16;MQ0=0;MQRankSum=1.542;QD=11.95;ReadPosRankSum=0.133;VQSLOD=3.3643;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,64:134:99:1631,0,1885 10 33552695 33552695 C T exonic NRP1 synonymous SNV NRP1:NM_001024628:exon4:c.G537A:p.V179V,NRP1:NM_001024629:exon4:c.G537A:p.V179V,NRP1:NM_001244972:exon4:c.G537A:p.V179V,NRP1:NM_001244973:exon4:c.G537A:p.V179V,NRP1:NM_001330068:exon4:c.G537A:p.V179V,NRP1:NM_003873:exon4:c.G537A:p.V179V 0.28 0.32 0.2 0.46 0.16 0.23 0.2037 0.2941 0.1869 0.4710 0.1713 0.1646 0.1828 0.1909 0.16 0.24 0.12 . 0.26 rs2070296 COSM3931007;COSM3931008;COSM3931006 1(breast);1(stomach);2(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1997 0.2984 0.1802 0.1654 0.4718 0.1652 0.1643 0.1816 0.1873 0.2168 0.2952 0.1611 0.1589 0.4858 0.1674 0.1608 0.1745 het 1409.58 128 10 33552695 . C T 1409.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.420;DP=128;Dels=0.00;FS=0.719;HRun=0;HaplotypeScore=0.9996;MQ=59.07;MQ0=0;MQRankSum=-1.343;QD=11.01;ReadPosRankSum=0.182;VQSLOD=5.7724;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1440,0,1821 10 33552696 33552696 A G exonic NRP1 nonsynonymous SNV NRP1:NM_001024628:exon4:c.T536C:p.V179A,NRP1:NM_001024629:exon4:c.T536C:p.V179A,NRP1:NM_001244972:exon4:c.T536C:p.V179A,NRP1:NM_001244973:exon4:c.T536C:p.V179A,NRP1:NM_001330068:exon4:c.T536C:p.V179A,NRP1:NM_003873:exon4:c.T536C:p.V179A 1. 1. 1. 1. 1. 1. 0.9998 1 0.9999 1 1 0.9997 1 1 1. 1. 1. 0.65 1. rs7079053 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.093 B 0.000 0.843 N 0.932 0.810 P 0.465 0.131 N 1.65 0.276 T 1.18 0.011 N 0.32 0.382 -0.924 0.450 T 0.000 0.000 T . . . 0.734 0.164 9.048 0.913 0.200 0.158 0.189 N c -0.461 -0.163 1.0 0.983 0.731 0.878 0 5.76 0.907 8.162 0.895 0.138 0.222 1.000 0.715 0.990 0.544 15.057 0.715 CUB domain . . 0.9999 1 0.9999 1 1 1 0.9997 0.9998 1 0.9998 0.9999 1 1 1 1 0.9997 1 hom 3831.16 130 10 33552696 . A G 3831.16 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.738;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=59.08;MQ0=0;MQRankSum=-0.282;QD=29.47;ReadPosRankSum=1.276;VQSLOD=8.2294;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,129:130:99:3792,271,0 10 33623251 33623251 G A exonic NRP1 synonymous SNV NRP1:NM_001024628:exon1:c.C60T:p.G20G,NRP1:NM_001024629:exon1:c.C60T:p.G20G,NRP1:NM_001244972:exon1:c.C60T:p.G20G,NRP1:NM_001244973:exon1:c.C60T:p.G20G,NRP1:NM_001330068:exon1:c.C60T:p.G20G,NRP1:NM_003873:exon1:c.C60T:p.G20G 0.12 0.038 0.086 0.21 0.088 0.21 0.1527 0.0954 0.1961 0.3297 0.15 0.1029 0.1377 0.1741 0.055 0.039 0.064 0.13 . rs3750733 COSM5459732;COSM5459733;COSM5459734 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1095 0.0432 0.1238 0.0586 0.2040 0.0634 0.0837 0.0906 0.1704 0.0768 0.0513 0.1169 0.0762 0.2268 0.0654 0.0751 0.0867 het 144.96 11 10 33623251 . G A 144.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.181;DP=11;Dels=0.00;FS=2.632;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.717;QD=13.18;ReadPosRankSum=-1.031;VQSLOD=5.9434;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:175,0,100 10 34408636 34408636 T C exonic PARD3 synonymous SNV PARD3:NM_001184791:exon20:c.A3246G:p.R1082R,PARD3:NM_001184789:exon22:c.A3333G:p.R1111R,PARD3:NM_001184790:exon22:c.A3312G:p.R1104R,PARD3:NM_001184786:exon23:c.A3534G:p.R1178R,PARD3:NM_001184787:exon23:c.A3471G:p.R1157R,PARD3:NM_001184788:exon23:c.A3444G:p.R1148R,PARD3:NM_001184785:exon24:c.A3573G:p.R1191R,PARD3:NM_019619:exon24:c.A3582G:p.R1194R 0.19 0.36 0.19 0.003 0.25 0.12 0.2279 0.3380 0.1569 0.0010 0.1833 0.2747 0.2261 0.1634 0.28 0.31 0.26 0.23 0.24 rs11009651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2184 0.3282 0.1697 0.3052 0.0008 0.1820 0.2663 0.2453 0.1637 0.2531 0.3323 0.2022 0.34 0.0025 0.1957 0.2497 0.2352 het 742.34 61 10 34408636 . T C 742.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.523;DP=61;Dels=0.00;FS=2.303;HRun=1;HaplotypeScore=3.5494;MQ=59.16;MQ0=0;MQRankSum=-1.064;QD=12.17;ReadPosRankSum=0.326;VQSLOD=5.8728;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:772,0,791 10 34688287 34688287 G A exonic PARD3 synonymous SNV PARD3:NM_001184790:exon6:c.C729T:p.H243H,PARD3:NM_001184791:exon6:c.C729T:p.H243H,PARD3:NM_001184785:exon7:c.C861T:p.H287H,PARD3:NM_001184786:exon7:c.C861T:p.H287H,PARD3:NM_001184787:exon7:c.C861T:p.H287H,PARD3:NM_001184788:exon7:c.C861T:p.H287H,PARD3:NM_001184789:exon7:c.C861T:p.H287H,PARD3:NM_001184792:exon7:c.C861T:p.H287H,PARD3:NM_001184793:exon7:c.C861T:p.H287H,PARD3:NM_001184794:exon7:c.C861T:p.H287H,PARD3:NM_019619:exon7:c.C861T:p.H287H 1. 1. 1. 1. 1. 1. 0.9990 0.9997 0.9997 1 0.9992 0.9984 0.9989 0.9995 1. 1. 1. 1. 1. rs2796011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9995 0.9998 0.9998 1 0.9996 0.9982 0.9989 0.9991 0.9980 0.9998 1 1 1 0.9971 0.9969 0.9959 hom 4438.59 154 10 34688287 . G A 4438.59 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.34;MQ0=0;QD=28.82;VQSLOD=7.9676;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:4438,340,0 10 37488689 37488689 G C exonic ANKRD30A nonsynonymous SNV ANKRD30A:NM_052997:exon30:c.G2583C:p.K861N 0.48 0.67 0.5 0.32 0.59 0.27 0.5155 0.6522 0.4956 0.3366 0.5196 0.5762 0.5199 0.2972 0.6 0.65 0.57 0.53 0.27 rs1209750 COSM4144670;COSM4144671 1(pancreas);1(thyroid) . . . . . . . . . . . 0.223 0.272 T 0.207 0.282 B 0.022 0.184 B . . . 1 0.090 P 0.345 0.112 N 3.42 0.055 T 0.38 0.039 N 0.013 0.014 -0.946 0.417 T 0.000 0.000 T . . . -1.024 0.031 0.014 0.603 0.063 0.000 0.004 N c -1.902 -2.064 0.022 0.134 0.487 0.133 0 -1.74 0.076 -0.682 0.052 -2.469 0.003 0.000 0.063 0.000 0.016 4.050 0.092 . . . 0.5039 0.6421 0.4921 0.5218 0.3338 0.5179 0.5678 0.5202 0.2848 0.5589 0.6351 0.5156 0.5638 0.3396 0.5178 0.5540 0.4980 hom 1103.83 43 10 37488689 . G C 1103.83 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=25.67;VQSLOD=7.4844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:84.27:1137,84,0 10 37505141 37505141 G A exonic ANKRD30A nonsynonymous SNV ANKRD30A:NM_052997:exon32:c.G2734A:p.V912I 0.13 0.013 0.27 0.085 0.26 0.089 0.2012 0.0428 0.2961 0.0901 0.2888 0.2375 0.2159 0.1056 0.17 0.045 0.23 0.087 0.11 rs1200876 . . . . . . . . . . . . . 0.231 0.182 T 0.064 0.220 B 0.012 0.149 B . . . 1 0.090 P 0.815 0.209 L 2.31 0.168 T -0.22 0.108 N 0.011 0.001 -0.913 0.465 T 0.000 0.000 T . . . -2.342 0.004 0.001 0.273 0.013 0.003 0.016 N c -1.747 -1.835 1.000 0.437 0.487 0.133 0 -4.61 0.031 -1.302 0.028 -0.256 0.089 0.001 0.137 0.001 0.043 9.917 0.404 . . . 0.2088 0.0405 0.2966 0.1992 0.0947 0.2948 0.2349 0.2316 0.1039 0.1797 0.0412 0.25 0.2351 0.0900 0.2944 0.2354 0.2315 het 184.36 26 10 37505141 . G A 184.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.818;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.28;MQ0=0;MQRankSum=0.290;QD=7.09;ReadPosRankSum=0.079;VQSLOD=5.3005;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,10:26:99:214,0,444 10 37505159 37505159 G A exonic ANKRD30A nonsynonymous SNV ANKRD30A:NM_052997:exon32:c.G2752A:p.A918T 0.23 0.41 0.16 0.16 0.22 0.11 0.2069 0.3792 0.1511 0.1392 0.1525 0.2304 0.1957 0.1061 0.28 0.39 0.23 0.3 0.27 rs34552277 . . . . . . . . . . . . . 0.297 0.190 T 0.127 0.254 B 0.04 0.225 B . . . 1 0.090 P 1.245 0.315 L 3.31 0.063 T -0.53 0.164 N 0.045 0.025 -0.937 0.431 T 0.000 0.000 T . . . 1.793 0.276 14.95 0.938 0.232 0.005 0.024 N c -1.239 -1.294 0.996 0.342 0.487 0.133 0 -0.004 0.133 -0.555 0.060 -0.437 0.058 0.002 0.151 0.008 0.104 3.881 0.085 . . . 0.2030 0.3829 0.1583 0.2699 0.1400 0.1563 0.2316 0.1998 0.1081 0.2566 0.3832 0.2120 0.2682 0.1394 0.1622 0.2235 0.1920 het 472.24 30 10 37505159 . G A 472.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.152;DP=30;Dels=0.00;FS=6.301;HRun=1;HaplotypeScore=0.0000;MQ=56.84;MQ0=0;MQRankSum=0.387;QD=15.74;ReadPosRankSum=-0.301;VQSLOD=2.9605;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,19:30:99:502,0,259 10 37505192 37505192 C T exonic ANKRD30A nonsynonymous SNV ANKRD30A:NM_052997:exon32:c.C2785T:p.R929C 0.13 0.017 0.27 0.084 0.26 0.089 0.2010 0.0438 0.2964 0.0900 0.2883 0.2371 0.2181 0.1055 0.17 0.046 0.23 0.087 0.12 rs1200875 COSM3786671;COSM3786670 1(pancreas);1(oesophagus) . . . . . . . . . . . 0.001 0.912 D 0.762 0.416 P 0.015 0.162 B . . . 1 0.090 P 0 0.065 N 2.29 0.171 T 0.32 0.040 N 0.074 0.064 -0.954 0.402 T 0.000 0.000 T . . . 3.384 0.465 23.0 0.925 0.214 0.052 0.110 N c -0.741 -0.825 1.000 0.462 0.487 0.133 0 2.63 0.303 1.451 0.345 0.462 0.278 0.026 0.200 0.006 0.095 10.634 0.446 . . . 0.2093 0.0416 0.2974 0.1993 0.0947 0.2949 0.2355 0.2326 0.1041 0.1804 0.0427 0.2482 0.2333 0.0897 0.2957 0.2358 0.2309 het 274 28 10 37505192 . C T 274 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.395;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.74;MQ0=0;MQRankSum=-1.013;QD=9.79;ReadPosRankSum=0.230;VQSLOD=5.9381;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:304,0,396 10 38241220 38241220 T C exonic ZNF25 synonymous SNV ZNF25:NM_001329650:exon6:c.A1206G:p.E402E,ZNF25:NM_001329652:exon6:c.A1206G:p.E402E,ZNF25:NM_001329654:exon6:c.A1206G:p.E402E,ZNF25:NM_001329655:exon6:c.A1203G:p.E401E,ZNF25:NM_145011:exon6:c.A1206G:p.E402E,ZNF25:NM_001329647:exon7:c.A1218G:p.E406E,ZNF25:NM_001329649:exon7:c.A1218G:p.E406E,ZNF25:NM_001329651:exon7:c.A1206G:p.E402E,ZNF25:NM_001329653:exon7:c.A1206G:p.E402E,ZNF25:NM_001329657:exon7:c.A1098G:p.E366E,ZNF25:NM_001329658:exon7:c.A1098G:p.E366E,ZNF25:NM_001329662:exon7:c.A1098G:p.E366E,ZNF25:NM_001329663:exon7:c.A1098G:p.E366E,ZNF25:NM_001329648:exon8:c.A1218G:p.E406E,ZNF25:NM_001329656:exon8:c.A1098G:p.E366E,ZNF25:NM_001329659:exon8:c.A1098G:p.E366E,ZNF25:NM_001329664:exon8:c.A1098G:p.E366E,ZNF25:NM_001329660:exon9:c.A1098G:p.E366E,ZNF25:NM_001329661:exon9:c.A1098G:p.E366E . . . . . . 0.0006 9.61e-05 0 0 0.0003 0.0011 0.0011 0 0.0008 0.0002 0.001 . . rs146555827 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0 2.981e-05 0 0 0.0003 0.0011 0.0002 0 0.0003 0 0 0 0 0.0006 0.0004 0 het 1678.46 116 10 38241220 . T C 1678.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.819;DP=116;Dels=0.00;FS=3.545;HRun=0;HaplotypeScore=2.9912;MQ=59.80;MQ0=0;MQRankSum=-0.246;QD=14.47;ReadPosRankSum=-0.444;VQSLOD=4.3396;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,58:116:99:1708,0,1448 10 38344700 38344700 C G exonic ZNF33A nonsynonymous SNV ZNF33A:NM_001278170:exon4:c.C1666G:p.Q556E,ZNF33A:NM_001324178:exon4:c.C1669G:p.Q557E,ZNF33A:NM_001278177:exon5:c.C1711G:p.Q571E,ZNF33A:NM_001278178:exon5:c.C1312G:p.Q438E,ZNF33A:NM_001324176:exon5:c.C1312G:p.Q438E,ZNF33A:NM_006954:exon5:c.C1648G:p.Q550E,ZNF33A:NM_006974:exon5:c.C1645G:p.Q549E,ZNF33A:NM_001278171:exon6:c.C1312G:p.Q438E,ZNF33A:NM_001278173:exon6:c.C1702G:p.Q568E,ZNF33A:NM_001278174:exon6:c.C1312G:p.Q438E,ZNF33A:NM_001278175:exon6:c.C1414G:p.Q472E,ZNF33A:NM_001278176:exon6:c.C1519G:p.Q507E,ZNF33A:NM_001278179:exon6:c.C1312G:p.Q438E,ZNF33A:NM_001324175:exon6:c.C1312G:p.Q438E,ZNF33A:NM_001324177:exon6:c.C1312G:p.Q438E 0.48 0.53 0.52 0.58 0.49 0.26 0.4463 0.5167 0.5404 0.5652 0.3239 0.4584 0.4350 0.2744 0.49 0.51 0.48 0.52 0.48 rs2505232 . . . . . . . . . . . . . 0.078 0.339 T 0.0 0.026 B 0.0 0.013 B 0.003 0.364 N 1.000 0.090 P -1.745 0.003 N 3.2 0.116 T -2.53 0.548 D 0.04 0.141 -0.938 0.429 T 0.000 0.000 T . . . -1.115 0.028 0.009 0.130 0.002 0.002 0.010 N c -1.193 -1.044 0.908 0.262 0.732 0.924 0 1.68 0.231 3.855 0.554 -0.151 0.108 1.000 0.715 0.971 0.463 7.605 0.271 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000175395.11|ENSG00000226578.1|ENSG00000175395.11|ENSG00000075407.13|ENSG00000175395.11|ENSG00000099251.10|ENSG00000226578.1|ENSG00000099251.10|ENSG00000226578.1|ENSG00000226578.1|ENSG00000175395.11|ENSG00000099251.10|ENSG00000075407.13|ENSG00000225119.3|ENSG00000075407.13|ENSG00000225119.3|ENSG00000226113.1|ENSG00000241125.1|ENSG00000224761.2|ENSG00000099251.10 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Whole_Blood 0.4510 0.5126 0.5491 0.4217 0.5591 0.3297 0.4700 0.4448 0.2830 0.4592 0.5083 0.5505 0.4834 0.5312 0.3174 0.4564 0.3693 het 2174 127 10 38344700 . C G 2174 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.685;DP=127;Dels=0.00;FS=0.671;HRun=3;HaplotypeScore=2.5612;MQ=59.31;MQ0=0;MQRankSum=1.456;QD=17.12;ReadPosRankSum=-0.204;VQSLOD=5.2534;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,76:127:99:2204,0,1439 10 43089965 43089965 G A exonic ZNF33B nonsynonymous SNV ZNF33B:NM_001305033:exon4:c.C454T:p.R152C,ZNF33B:NM_001305036:exon5:c.C97T:p.R33C,ZNF33B:NM_001305037:exon5:c.C97T:p.R33C,ZNF33B:NM_001305038:exon5:c.C97T:p.R33C,ZNF33B:NM_006955:exon5:c.C433T:p.R145C,ZNF33B:NM_001305035:exon6:c.C97T:p.R33C,ZNF33B:NM_001305039:exon6:c.C97T:p.R33C,ZNF33B:NM_001305040:exon7:c.C97T:p.R33C 0.73 0.53 0.78 0.87 0.83 0.69 0.7984 0.6117 0.8372 0.8650 0.7284 0.8426 0.7810 0.7043 0.77 0.62 0.85 0.74 0.78 rs210280 . . . . . . . . . . . . . 0.183 0.217 T 0.0 0.026 B 0.0 0.013 B 0.582 0.055 N 1 0.090 P -2.375 0.001 N 3.51 0.050 T 2.24 0.003 N 0.046 0.026 -1.033 0.196 T 0.000 0.000 T . . . 0.807 0.171 9.509 0.433 0.032 0.003 0.015 N c -1.824 -1.791 0.999 0.378 0.615 0.372 0 -0.499 0.114 -0.617 0.056 -0.015 0.131 0.000 0.063 0.004 0.083 3.632 0.076 . ENSG00000196693.10|ENSG00000215146.4|ENSG00000196693.10|ENSG00000196693.10|ENSG00000196693.10|ENSG00000196693.10|ENSG00000196693.10|ENSG00000196693.10|ENSG00000196693.10|ENSG00000215146.4|ENSG00000196693.10|ENSG00000196693.10|ENSG00000196693.10|ENSG00000196693.10|ENSG00000196693.10 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8031 0.6088 0.8362 0.7965 0.8608 0.7310 0.8519 0.8048 0.7076 0.7669 0.6113 0.8341 0.8311 0.8544 0.7387 0.8495 0.7678 het 1098.05 69 10 43089965 . G A 1098.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.097;DP=69;Dels=0.00;FS=2.033;HRun=0;HaplotypeScore=1.9858;MQ=58.65;MQ0=0;MQRankSum=-1.071;QD=15.91;ReadPosRankSum=1.192;VQSLOD=5.3487;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,39:69:99:1128,0,729 10 43281089 43281089 T C exonic BMS1 synonymous SNV BMS1:NM_014753:exon3:c.T336C:p.T112T 0.56 0.63 0.49 0.64 0.42 0.59 0.4641 0.5947 0.5133 0.6459 0.4040 0.3932 0.4416 0.5638 0.46 0.6 0.39 0.5 0.27 rs7074877 COSM3931014 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4632 0.5976 0.5141 0.4386 0.6490 0.3914 0.3909 0.4425 0.5619 0.4708 0.5977 0.4868 0.43 0.6725 0.3950 0.3962 0.4230 het 2780.31 245 10 43281089 . T C 2780.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.528;DP=245;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6295;MQ=57.98;MQ0=0;MQRankSum=1.184;QD=11.35;ReadPosRankSum=-0.402;VQSLOD=5.4839;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:135,110:245:99:2810,0,3821 10 43595968 43595968 A G exonic RET synonymous SNV RET:NM_020630:exon2:c.A135G:p.A45A,RET:NM_020975:exon2:c.A135G:p.A45A 0.75 0.98 0.75 0.53 0.74 0.69 0.7365 0.9516 0.7545 0.5491 0.6424 0.7351 0.7251 0.7313 0.81 0.95 0.74 0.72 0.74 rs1800858 COSM4144677;COSM4144678 22(soft_tissue);1(thyroid) other|Benign|Benign|not provided\x2cBenign Hirschsprung_disease_1|not_provided|Multiple_endocrine_neoplasia\x2c_type_2|not_specified\x2cnot_specified RCV000014967.2|RCV000127776.1|RCV000205827.2|RCV000216697.1\x2cRCV000153833.3 MedGen:OMIM|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen\x2cMedGen C2931876:142623|CN221809|CN073359:ORPHA653:61808009|CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7309 0.9538 0.7583 0.7048 0.5515 0.6414 0.7404 0.7321 0.7296 0.7726 0.9506 0.7787 0.6656 0.5790 0.6447 0.7260 0.7041 hom 2623.30 85 10 43595968 . A G 2623.30 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=58.96;MQ0=0;QD=30.86;VQSLOD=9.5372;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2656,214,0 10 43606687 43606687 A G exonic RET synonymous SNV RET:NM_020630:exon7:c.A1296G:p.A432A,RET:NM_020975:exon7:c.A1296G:p.A432A 0.78 0.89 0.62 0.8 0.72 0.75 0.7061 0.8647 0.5310 0.8075 0.7021 0.6902 0.7174 0.7410 0.75 0.86 0.69 0.76 0.66 rs1800860 COSM5983420;COSM5983421 1(upper_aerodigestive_tract) Benign|Benign|Benign|Benign|Benign|Benign not_specified|Hereditary_cancer-predisposing_syndrome|Multiple_endocrine_neoplasia|Hirschsprung_Disease\x2c_Dominant|Pheochromocytoma|Renal_adysplasia RCV000082048.8|RCV000131068.2|RCV000265973.1|RCV000285939.1|RCV000321087.1|RCV000380264.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:OMIM|MedGen:OMIM CN169374|C0027672:699346009|C0027662:ORPHA276161:46724008|CN239304|C0031511:171300|C1619700:191830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6956 0.8640 0.5445 0.6759 0.8006 0.6949 0.6907 0.6979 0.7419 0.7388 0.8614 0.5586 0.7351 0.7862 0.6981 0.6843 0.7031 hom 5716.36 192 10 43606687 . A G 5716.36 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2010;MQ=59.52;MQ0=0;QD=29.77;VQSLOD=8.2846;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:5715,469,0 10 43613843 43613843 G T exonic RET synonymous SNV RET:NM_020630:exon13:c.G2307T:p.L769L,RET:NM_020975:exon13:c.G2307T:p.L769L 0.71 0.92 0.75 0.47 0.76 0.6 0.7419 0.8852 0.7684 0.4999 0.7693 0.7685 0.7267 0.6419 0.8 0.88 0.77 0.76 0.75 rs1800861 COSM4418405;COSM4418406 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) Benign|Benign|Benign\x2cBenign No_MEN2_disease|not_specified|Multiple_endocrine_neoplasia\x2c_type_2\x2cnot_specified RCV000021844.1|RCV000154625.1|RCV000203706.2\x2cRCV000153835.3 MedGen|MedGen:Orphanet:SNOMED_CT\x2cMedGen CN169374|CN073359:ORPHA653:61808009\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7392 0.8860 0.7692 0.7108 0.5073 0.7674 0.7683 0.7593 0.6428 0.7799 0.8831 0.7888 0.7333 0.5354 0.7661 0.7524 0.7403 hom 2902.67 93 10 43613843 . G T 2902.67 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=58.78;MQ0=0;QD=31.21;VQSLOD=9.1565;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2936,235,0 10 43678796 43678796 C T exonic CSGALNACT2 nonsynonymous SNV CSGALNACT2:NM_018590:exon8:c.C1435T:p.P479S 0.16 0.02 0.19 0.2 0.26 0.17 0.2317 0.0652 0.1594 0.2321 0.3172 0.2761 0.2357 0.1731 0.2 0.07 0.27 0.14 0.21 rs2435381 COSM3751781 1(haematopoietic_and_lymphoid_tissue);4(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.188 0.213 T 0.128 0.254 B 0.084 0.277 B 0.000 0.629 N 0.000 0.588 P 0.91 0.234 L 1.63 0.280 T -2.83 0.597 D 0.073 0.062 -1.019 0.241 T 0.000 0.000 T . . . 3.156 0.439 22.6 0.988 0.455 0.877 0.471 D c 0.091 0.275 1.000 0.747 0.707 0.730 0 5.87 0.942 2.956 0.486 0.935 0.490 0.914 0.315 0.999 0.750 20.583 0.994 Nucleotide-diphospho-sugar transferases . . 0.2325 0.0624 0.1692 0.2274 0.2325 0.3181 0.2752 0.2388 0.1697 0.2114 0.0663 0.1814 0.2682 0.2407 0.3080 0.2676 0.2597 het 2500.80 216 10 43678796 . C T 2500.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.635;DP=216;DS;Dels=0.00;FS=5.810;HRun=2;HaplotypeScore=4.2898;MQ=59.40;MQ0=0;MQRankSum=-0.285;QD=11.58;ReadPosRankSum=0.175;VQSLOD=5.0388;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,95:216:99:2531,0,3373 10 44052903 44052903 A C exonic ZNF239 nonsynonymous SNV ZNF239:NM_001099283:exon2:c.T625G:p.C209G,ZNF239:NM_001324348:exon2:c.T625G:p.C209G,ZNF239:NM_005674:exon2:c.T625G:p.C209G,ZNF239:NM_001099284:exon3:c.T625G:p.C209G,ZNF239:NM_001324347:exon3:c.T625G:p.C209G,ZNF239:NM_001324350:exon3:c.T625G:p.C209G,ZNF239:NM_001324351:exon3:c.T625G:p.C209G,ZNF239:NM_001099282:exon4:c.T625G:p.C209G,ZNF239:NM_001324349:exon4:c.T625G:p.C209G,ZNF239:NM_001324352:exon4:c.T751G:p.C251G,ZNF239:NM_001324353:exon5:c.T964G:p.C322G 0.54 0.49 0.51 0.55 0.53 0.65 0.5573 0.5147 0.5160 0.5554 0.6334 0.5493 0.5854 0.6125 0.53 0.53 0.53 0.58 0.53 rs2230661 COSM3751783 1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 0.998 0.715 D 0.991 0.782 D . . . 0.157 0.351 P 3.66 0.944 H -0.97 0.757 T -10.92 0.993 D 0.313 0.375 -0.961 0.389 T 0.000 0.000 T . . . 3.450 0.473 23.0 0.913 0.199 0.751 0.365 D c 0.395 0.139 0.090 0.161 0.638 0.428 0 2.88 0.325 4.573 0.604 0.237 0.263 1.000 0.715 0.004 0.083 7.281 0.253 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000196793.9 Testis 0.5525 0.5144 0.5064 0.4746 0.5477 0.6229 0.5503 0.5471 0.6073 0.5399 0.4975 0.5203 0.4338 0.5521 0.6355 0.5402 0.6022 hom 4682.18 137 10 44052903 . A C 4682.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.681;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7052;MQ=59.66;MQ0=0;MQRankSum=1.681;QD=34.18;ReadPosRankSum=1.707;VQSLOD=8.2531;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,136:137:99:4660,342,0 10 44053013 44053013 G C exonic ZNF239 nonsynonymous SNV ZNF239:NM_001099283:exon2:c.C515G:p.A172G,ZNF239:NM_001324348:exon2:c.C515G:p.A172G,ZNF239:NM_005674:exon2:c.C515G:p.A172G,ZNF239:NM_001099284:exon3:c.C515G:p.A172G,ZNF239:NM_001324347:exon3:c.C515G:p.A172G,ZNF239:NM_001324350:exon3:c.C515G:p.A172G,ZNF239:NM_001324351:exon3:c.C515G:p.A172G,ZNF239:NM_001099282:exon4:c.C515G:p.A172G,ZNF239:NM_001324349:exon4:c.C515G:p.A172G,ZNF239:NM_001324352:exon4:c.C641G:p.A214G,ZNF239:NM_001324353:exon5:c.C854G:p.A285G . . . . . . 0.5572 0.5146 0.5158 0.5560 0.6336 0.5492 0.5824 0.6124 0.53 0.53 0.54 0.58 0.53 rs2230660 COSM3751784 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.046 0.405 D 0.501 0.353 P 0.118 0.305 B . . . 1 0.090 P 1.65 0.424 L 3.31 0.063 T -2.24 0.501 N 0.053 0.035 -0.992 0.321 T 0.000 0.000 T . . . 1.103 0.200 11.23 0.974 0.334 0.043 0.098 N c -0.902 -1.012 0.000 0.069 0.638 0.428 0 0.271 0.148 -0.531 0.062 -0.308 0.079 0.000 0.063 0.000 0.016 4.344 0.105 . ENSG00000196793.9 Testis 0.5524 0.5145 0.5063 0.4748 0.5477 0.6226 0.5503 0.5468 0.6073 0.5401 0.4979 0.5203 0.4338 0.5484 0.6354 0.5407 0.6022 hom 7875.74 249 10 44053013 . G C 7875.74 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2366;MQ=58.73;MQ0=0;QD=31.63;VQSLOD=7.9468;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7875,602,0 10 45430462 45430462 C T exonic TMEM72 synonymous SNV TMEM72:NM_001345926:exon4:c.C354T:p.A118A,TMEM72:NM_001123376:exon5:c.C708T:p.A236A 0.33 0.31 0.44 0.33 0.4 0.23 0.3861 0.3144 0.4974 0.3025 0.3532 0.4207 0.3795 0.2686 0.39 0.33 0.42 0.34 0.42 rs17417442 COSM3997969;COSM3997970 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3927 0.3133 0.4959 0.4786 0.2982 0.3599 0.4199 0.4049 0.2687 0.3860 0.3244 0.4474 0.4636 0.2735 0.3673 0.4324 0.4016 het 2640.98 191 10 45430462 . C T 2640.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.186;DP=191;DS;Dels=0.00;FS=1.172;HRun=0;HaplotypeScore=1.6553;MQ=59.67;MQ0=0;MQRankSum=1.393;QD=13.83;ReadPosRankSum=-1.024;VQSLOD=6.3865;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,98:191:99:2671,0,2274 10 45496120 45496120 A T exonic C10orf25 nonsynonymous SNV C10orf25:NM_001039380:exon1:c.T188A:p.I63N 0.46 0.22 0.69 0.37 0.66 0.51 0.5984 0.3177 0.7396 0.3675 0.6823 0.6519 0.5938 0.5457 0.54 0.33 0.65 0.48 0.64 rs12269028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6096 0.3084 0.7340 0.6162 0.3742 0.6781 0.6520 0.6382 0.5448 0.5424 0.3102 0.6998 0.6026 0.3994 0.6805 0.6451 0.6306 het 640.21 56 10 45496120 . A T 640.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.771;DP=56;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;MQRankSum=0.377;QD=11.43;ReadPosRankSum=-0.394;VQSLOD=6.5274;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,27:56:99:670,0,688 10 45953767 45953767 A G exonic MARCH8 nonsynonymous SNV MARCH8:NM_001002266:exon7:c.T796C:p.Y266H,MARCH8:NM_145021:exon7:c.T796C:p.Y266H,MARCH8:NM_001282866:exon8:c.T1642C:p.Y548H 0.3 0.33 0.37 0.17 0.35 0.3 0.3146 0.3511 0.4051 0.1627 0.3615 0.3124 0.2808 0.2998 0.32 0.35 0.3 0.24 0.34 rs7908745 COSM3997971 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.588 0.058 T 0.0 0.026 B 0.0 0.013 B 0.006 0.011 N 1 0.090 P -0.69 0.019 N 2.81 0.110 T 0.55 0.027 N 0.028 0.305 -0.917 0.460 T 0.000 0.000 T . . . 0.317 0.124 5.856 0.862 0.158 0.036 0.087 N c -0.883 -0.751 0.989 0.316 0.732 0.924 0 0.455 0.158 4.318 0.587 0.138 0.222 1.000 0.715 0.981 0.494 5.541 0.162 . ENSG00000172661.13|ENSG00000165406.11|ENSG00000172661.13|ENSG00000172661.13|ENSG00000230869.1|ENSG00000172661.13 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.3156 0.3488 0.3999 0.1974 0.1585 0.3622 0.3163 0.3113 0.2974 0.3316 0.3519 0.4105 0.1887 0.1532 0.3725 0.3275 0.3371 het 879.14 80 10 45953767 . A G 879.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.493;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9155;MQ=60.00;MQ0=0;MQRankSum=1.046;QD=10.99;ReadPosRankSum=0.557;VQSLOD=6.2153;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,33:80:99:909,0,1296 10 46143958 46143958 T G exonic ZFAND4 nonsynonymous SNV ZFAND4:NM_001128324:exon5:c.A353C:p.K118T,ZFAND4:NM_174890:exon5:c.A353C:p.K118T,ZFAND4:NM_001282905:exon6:c.A131C:p.K44T,ZFAND4:NM_001282906:exon6:c.A131C:p.K44T 0.099 0.0068 0.22 0.032 0.15 0.15 0.1338 0.0248 0.2836 0.0341 0.1456 0.1311 0.1326 0.1572 0.094 0.03 0.13 0.11 0.17 rs17854567 . . . . . . . . . . . . . 0.001 0.784 D 0.002 0.238 B 0.001 0.158 B 0.036 0.018 N 0.214 0.810 P 0 0.065 N 1.96 0.468 T -1.16 0.297 N 0.057 0.241 -1.098 0.043 T 0.000 0.001 T . . . 3.136 0.436 22.6 0.997 0.833 0.987 0.862 D c -0.143 0.049 0.999 0.388 0.651 0.465 0 5.78 0.914 4.627 0.607 1.011 0.635 1.000 0.715 0.892 0.376 14.066 0.642 . . . 0.1397 0.0243 0.2720 0.0934 0.0327 0.1501 0.1323 0.1485 0.1474 0.1023 0.0277 0.2644 0.0762 0.0277 0.1584 0.1297 0.1415 het 1444.38 135 10 46143958 . T G 1444.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.056;DP=135;Dels=0.00;FS=3.207;HRun=0;HaplotypeScore=0.8321;MQ=59.35;MQ0=0;MQRankSum=0.096;QD=10.70;ReadPosRankSum=-0.371;VQSLOD=6.6726;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,58:135:99:1474,0,2069 10 46965018 46965018 C G exonic SYT15 nonsynonymous SNV SYT15:NM_031912:exon6:c.G927C:p.E309D,SYT15:NM_181519:exon6:c.G927C:p.E309D . . . . . . 0.4793 0.4720 0.4729 0.4027 0.4814 0.4869 0.4977 0.4959 0.47 0.45 0.48 0.41 . rs3127785 COSM146930;COSM4144698;COSM4144697;COSM4909326;COSM4144699 1(stomach);2(thyroid);1(thymus) . . . . . . . . . . . . . . 0.001 0.067 B 0.015 0.162 B 0.070 0.215 N 1.000 0.090 P -0.595 0.022 N . . . . . . 0.066 0.052 -1.062 0.112 T 0.000 0.000 T . . . 0.444 0.137 6.987 0.755 0.107 0.059 0.117 N c -1.796 -1.810 1.000 0.747 0.515 0.199 0 -10.1 0.003 -4.010 0.004 0.649 0.292 0.000 0.063 0.227 0.223 8.444 0.318 C2 domain . . 0.4766 0.4690 0.4743 0.4731 0.3909 0.4817 0.4853 0.4815 0.4940 0.4770 0.4739 0.4712 0.4720 0.3814 0.4849 0.4869 0.4847 het 264.84 51 10 46965018 . C G 264.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.029;DP=51;Dels=0.00;FS=1.191;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.475;QD=5.19;ReadPosRankSum=-0.707;VQSLOD=3.7516;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,14:51:99:295,0,1037 10 46965727 46965727 G A exonic SYT15 synonymous SNV SYT15:NM_031912:exon5:c.C810T:p.A270A,SYT15:NM_181519:exon5:c.C810T:p.A270A . . . . . . 0.5069 0.5281 0.4995 0.4788 0.5068 0.5086 0.5178 0.5070 0.52 0.54 0.51 0.48 . rs1889849 COSM5467949;COSM5467950;COSM5467947;COSM5467948 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5066 0.5291 0.5011 0.5102 0.4794 0.5078 0.5087 0.5099 0.5057 0.5133 0.5312 0.5037 0.5133 0.4857 0.5113 0.5071 0.5094 het 1656.55 92 10 46965727 . G A 1656.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.685;DP=92;Dels=0.00;FS=4.159;HRun=0;HaplotypeScore=2.6377;MQ=59.55;MQ0=0;MQRankSum=1.570;QD=18.01;ReadPosRankSum=0.578;VQSLOD=4.5386;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,60:92:99:1687,0,695 10 46967672 46967672 C T exonic SYT15 synonymous SNV SYT15:NM_031912:exon4:c.G405A:p.P135P,SYT15:NM_181519:exon4:c.G405A:p.P135P . . . . . . 0.5135 0.5646 0.5044 0.5024 0.5085 0.5101 0.5245 0.5113 0.54 0.59 0.52 0.54 . rs2152530 COSM4144702;COSM4909402;COSM4144701;COSM4144700 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5122 0.5650 0.5057 0.5108 0.5024 0.5092 0.5098 0.5134 0.5101 0.5243 0.5636 0.5084 0.5132 0.5031 0.5123 0.5087 0.5132 het 4024.04 200 10 46967672 . C T 4024.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.538;DP=200;Dels=0.00;FS=4.469;HRun=0;HaplotypeScore=1.8110;MQ=59.32;MQ0=0;MQRankSum=-0.610;QD=20.12;ReadPosRankSum=-0.306;VQSLOD=4.2322;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,123:200:99:3542,0,1787 10 46968665 46968665 G A exonic SYT15 synonymous SNV SYT15:NM_031912:exon3:c.C271T:p.L91L,SYT15:NM_181519:exon3:c.C271T:p.L91L . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.125 1.825 1.000 0.747 0.765 0.991 0 2.74 0.312 1.388 0.338 0.053 0.162 0.438 0.262 0.043 0.159 6.684 0.222 . . . . . . . . . . . . . . . . . . . . het 370.38 41 10 46968665 . G A 370.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.692;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8730;MQ=57.71;MQ0=0;MQRankSum=-0.609;QD=9.03;ReadPosRankSum=1.421;VQSLOD=3.5835;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,15:41:99:400,0,796 10 46998894 46998894 G A exonic GPRIN2 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G14A:p.R5H . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -1.460 -1.515 1.000 0.747 0.722 0.854 0 -10.4 0.003 -2.071 0.015 -0.989 0.022 0.000 0.063 0.337 0.244 5.079 0.139 . . . . . . . . . . . . . . . . . . . . het 605.39 97 10 46998894 . G A 605.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.972;DP=97;Dels=0.00;FS=3.068;HRun=0;HaplotypeScore=2.5105;MQ=59.28;MQ0=0;MQRankSum=-0.295;QD=6.24;ReadPosRankSum=0.532;VQSLOD=4.3524;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,32:97:99:635,0,1655 10 46999019 46999019 G A exonic GPRIN2 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G139A:p.V47M . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c 0.369 0.279 1.000 0.747 0.672 0.522 0 5.43 0.789 2.703 0.465 0.935 0.490 0.137 0.232 0.994 0.587 15.109 0.719 . . . . . . . . . . . . . . . . . . . . het 354.34 61 10 46999019 . G A 354.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.084;DP=61;Dels=0.00;FS=1.118;HRun=0;HaplotypeScore=0.0000;MQ=58.32;MQ0=1;MQRankSum=0.115;QD=5.81;ReadPosRankSum=1.083;VQSLOD=3.2482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,17:61:99:384,0,1121 10 46999030 46999030 C T exonic GPRIN2 synonymous SNV GPRIN2:NM_014696:exon3:c.C150T:p.A50A . . . . . . 0.4829 0.4069 0.4946 0.4968 0.4903 0.4888 0.4719 0.4872 . . . 0.37 0.37 rs4925989 COSM1560778 1(breast);2(upper_aerodigestive_tract);9(large_intestine);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4824 0.3863 0.4920 0.4824 0.4962 0.4884 0.4874 0.4835 0.4861 0.4678 0.4059 0.4902 0.4792 0.4955 0.4873 0.4911 0.4860 het 362.57 52 10 46999030 . C T 362.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.284;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.11;MQ0=0;MQRankSum=0.254;QD=6.97;ReadPosRankSum=-0.660;VQSLOD=5.2976;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,17:52:99:393,0,984 10 46999178 46999178 A C exonic GPRIN2 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.A298C:p.T100P . . . . . . 0.4838 0.4089 0.4951 0.4972 0.4907 0.4894 0.4753 0.4888 . . . 0.41 0.44 rs7090312 COSM427579 1(breast);2(haematopoietic_and_lymphoid_tissue);2(cervix);2(thyroid);21(upper_aerodigestive_tract);3(large_intestine);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4855 0.3999 0.4937 0.4878 0.4973 0.4903 0.4896 0.4839 0.4901 0.4683 0.4081 0.4914 0.4830 0.4962 0.4869 0.4913 0.4861 het 530.63 41 10 46999178 . A C 530.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.447;DP=41;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9958;MQ=57.82;MQ0=0;MQRankSum=0.300;QD=12.94;ReadPosRankSum=1.343;VQSLOD=5.1810;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:561,0,543 10 46999190 46999190 A G exonic GPRIN2 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.A310G:p.S104G 0.91 0.82 0.94 0.96 0.93 0.94 0.8939 0.7561 0.9390 0.9484 0.8910 0.8955 0.8736 0.9118 . . . 0.42 0.85 rs3127679 COSM4144705 1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8961 0.7555 0.9316 0.9066 0.9503 0.8832 0.8935 0.8855 0.9113 0.8591 0.7595 0.9248 0.9139 0.9469 0.8807 0.8951 0.9012 het 620.73 40 10 46999190 . A G 620.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.814;DP=40;Dels=0.00;FS=1.378;HRun=1;HaplotypeScore=8.2643;MQ=57.77;MQ0=0;MQRankSum=-1.156;QD=15.52;ReadPosRankSum=1.956;VQSLOD=2.2620;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:16,24:40:99:651,0,380 10 46999465 46999465 A G exonic GPRIN2 synonymous SNV GPRIN2:NM_014696:exon3:c.A585G:p.S195S . . . . . . 0.5021 0.5024 0.5012 0.5001 0.5015 0.5022 0.5068 0.5035 . . . 0.5 0.48 rs3127682 COSM4594613 1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5018 0.5022 0.5011 0.5046 0.5001 0.5014 0.5019 0.5028 0.5024 0.5015 0.5023 0.5012 0.5099 0.5 0.5011 0.5011 0.5031 het 428.24 60 10 46999465 . A G 428.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.313;DP=60;Dels=0.00;FS=1.059;HRun=1;HaplotypeScore=0.9992;MQ=58.99;MQ0=0;MQRankSum=-0.478;QD=7.14;ReadPosRankSum=-0.651;VQSLOD=4.8507;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,20:60:99:458,0,1185 10 46999484 46999484 G T exonic GPRIN2 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G604T:p.G202W . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c 0.069 -0.098 1.000 0.747 0.672 0.522 0 5.11 0.691 1.600 0.361 0.935 0.490 0.002 0.151 0.001 0.043 14.413 0.666 . . . . . . . . . . . . . . . . . . . . het 444.63 50 10 46999484 . G T 444.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.598;DP=50;Dels=0.00;FS=3.956;HRun=0;HaplotypeScore=1.5661;MQ=58.31;MQ0=0;MQRankSum=1.059;QD=8.89;ReadPosRankSum=-0.280;VQSLOD=4.5564;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,19:50:99:475,0,914 10 46999591 46999591 - ATGAGGGAG exonic GPRIN2 nonframeshift insertion GPRIN2:NM_014696:exon3:c.711_712insATGAGGGAG:p.E240_V241insMRE 0.48 0.47 0.49 0.48 0.48 0.49 0.5014 0.5014 0.5010 0.4999 0.5015 0.5014 0.5055 0.5024 0.48 0.49 0.48 . . rs112620425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5016 0.5022 0.5012 0.5099 0.5 0.5014 0.5011 0.5041 het 3914.69 90 10 46999591 . C CATGAGGGAG 3914.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.274;DP=90;FS=2.659;HRun=0;HaplotypeScore=912.9005;MQ=49.91;MQ0=0;MQRankSum=-5.522;QD=43.50;ReadPosRankSum=0.215;set=variant2 GT:AD:DP:GQ:PL 0/1:65,23:90:99:3915,0,3552 10 46999732 46999732 G A exonic GPRIN2 synonymous SNV GPRIN2:NM_014696:exon3:c.G852A:p.G284G . . . . . . 0.4838 0.4097 0.4952 0.4970 0.4915 0.4897 0.4757 0.4890 0.44 0.39 0.47 0.4 0.44 rs4579877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4855 0.4009 0.4939 0.4881 0.4974 0.4906 0.4896 0.4849 0.4902 0.4685 0.4080 0.4914 0.4829 0.4962 0.4873 0.4911 0.4848 het 796.09 100 10 46999732 . G A 796.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.587;DP=100;Dels=0.00;FS=9.193;HRun=0;HaplotypeScore=0.9665;MQ=57.66;MQ0=0;MQRankSum=0.673;QD=7.96;ReadPosRankSum=1.190;VQSLOD=2.9103;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,34:100:99:826,0,2065 10 46999747 46999747 T C exonic GPRIN2 synonymous SNV GPRIN2:NM_014696:exon3:c.T867C:p.H289H . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 0.009 0.214 1.000 0.747 0.672 0.522 0 -4.12 0.036 -1.457 0.025 0.028 0.149 0.000 0.063 0.690 0.307 6.434 0.209 . . . . . . . . . . . . . . . . . . . . het 1032.38 99 10 46999747 . T C 1032.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.822;DP=99;Dels=0.00;FS=5.223;HRun=0;HaplotypeScore=1.7005;MQ=58.11;MQ0=0;MQRankSum=-0.707;QD=10.43;ReadPosRankSum=0.117;VQSLOD=4.0854;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,41:99:99:1062,0,1681 10 46999863 46999863 C G exonic GPRIN2 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.C983G:p.S328C 0.16 0.1 0.33 0.004 0.3 0.16 0.2620 0.1375 0.3263 0.0017 0.2830 0.3227 0.2434 0.1799 0.19 0.11 0.24 0.033 0.24 rs4445576 COSM427581 3(pancreas);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2352 0.1054 0.2977 0.2985 0.0009 0.2529 0.2925 0.2517 0.1524 0.2236 0.1233 0.3021 0.2831 0.0006 0.2524 0.2996 0.2578 het 937.18 105 10 46999863 . C G 937.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.123;DP=105;Dels=0.00;FS=0.775;HRun=0;HaplotypeScore=3.6141;MQ=58.83;MQ0=0;MQRankSum=0.494;QD=8.93;ReadPosRankSum=-1.735;VQSLOD=4.8188;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,38:105:99:967,0,1721 10 47000004 47000004 T C exonic GPRIN2 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.T1124C:p.V375A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -1.958 -1.808 1.000 0.747 0.632 0.408 0 1.74 0.235 0.766 0.260 -0.388 0.064 0.000 0.063 0.000 0.016 8.915 0.346 G protein-regulated inducer of neurite outgrowth\x2c C-terminal . . . . . . . . . . . . . . . . . . . hom 2884.36 93 10 47000004 . T C 2884.36 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.37;MQ0=0;QD=31.01;VQSLOD=7.8177;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2917,238,0 10 47000146 47000146 C T exonic GPRIN2 synonymous SNV GPRIN2:NM_014696:exon3:c.C1266T:p.P422P 0.5 0.5 0.51 0.51 0.51 0.5 0.5016 0.4993 0.5015 0.5 0.5011 0.5020 0.5037 0.5027 . . . 0.47 0.35 rs3127684 COSM3747186 1(liver);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5015 0.5004 0.5011 0.5040 0.5001 0.5009 0.5019 0.5023 0.5019 0.5010 0.5 0.5012 0.5066 0.5 0.5011 0.5014 0.5041 het 318.97 30 10 47000146 . C T 318.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.858;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5488;MQ=58.45;MQ0=0;MQRankSum=-0.318;QD=10.63;ReadPosRankSum=3.239;VQSLOD=3.3770;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,12:30:99:349,0,476 10 47000188 47000188 A G exonic GPRIN2 synonymous SNV GPRIN2:NM_014696:exon3:c.A1308G:p.P436P 0.95 0.83 0.98 1. 1. 1. 0.9877 0.8652 0.9933 1 1 0.9994 0.9882 0.9998 0.96 0.88 1. 0.94 0.59 rs3127824 COSM3751795 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9895 0.8575 0.9918 0.9971 0.9997 1 0.9995 0.9925 0.9997 0.9644 0.8755 0.9916 0.9934 1 1 0.9997 0.9929 hom 692.14 21 10 47000188 . A G 692.14 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;QD=32.96;VQSLOD=8.6561;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:60.18:725,60,0 10 47000217 47000217 G A exonic GPRIN2 nonsynonymous SNV GPRIN2:NM_014696:exon3:c.G1337A:p.R446H . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.541 -0.502 1.000 0.747 0.635 0.413 0 3.2 0.357 -0.017 0.124 0.852 0.362 0.000 0.063 0.985 0.512 5.523 0.161 G protein-regulated inducer of neurite outgrowth\x2c C-terminal . . . . . . . . . . . . . . . . . . . het 47.38 12 10 47000217 . G A 47.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DP=12;Dels=0.00;FS=2.730;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.382;QD=3.95;ReadPosRankSum=0.000;VQSLOD=2.9995;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,3:12:77.38:77,0,215 10 47087078 47087078 G T exonic NPY4R;NPY4R2 nonsynonymous SNV NPY4R2:NM_001278795:exon1:c.G295T:p.A99S,NPY4R:NM_001278794:exon2:c.G295T:p.A99S,NPY4R:NM_005972:exon3:c.G295T:p.A99S . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.047 -0.131 1.000 0.747 0.622 0.393 0 3.89 0.439 0.822 0.268 0.823 0.336 0.140 0.233 0.019 0.132 13.643 0.616 GPCR\x2c rhodopsin-like\x2c 7TM . . . . . . . . . . . . . . . . . . . het 2075.97 250 10 47087078 . G T 2075.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.739;DP=250;DS;Dels=0.00;FS=6.124;HRun=0;HaplotypeScore=7.9719;MQ=59.61;MQ0=0;MQRankSum=1.493;QD=8.30;ReadPosRankSum=1.853;VQSLOD=2.5262;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:168,82:250:99:2106,0,4567 10 47087474 47087474 C T exonic NPY4R;NPY4R2 synonymous SNV NPY4R2:NM_001278795:exon1:c.C691T:p.L231L,NPY4R:NM_001278794:exon2:c.C691T:p.L231L,NPY4R:NM_005972:exon3:c.C691T:p.L231L . . . . . . 0.7542 0.7839 0.8757 0.9878 0.7066 0.6944 0.7456 0.7894 0.73 0.78 0.7 0.74 0.75 rs1129838 COSM4880823 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7580 0.7823 0.8597 0.6825 0.9891 0.7097 0.6969 0.7469 0.7882 0.7414 0.7849 0.8174 0.6887 0.9920 0.7148 0.6923 0.7352 hom 7022.95 216 10 47087474 . C T 7022.95 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.716;DP=216;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7497;MQ=59.13;MQ0=0;MQRankSum=0.599;QD=32.51;ReadPosRankSum=-0.615;VQSLOD=8.1877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,214:216:99:6991,542,0 10 47087501 47087501 C T exonic NPY4R;NPY4R2 nonsynonymous SNV NPY4R2:NM_001278795:exon1:c.C718T:p.R240C,NPY4R:NM_001278794:exon2:c.C718T:p.R240C,NPY4R:NM_005972:exon3:c.C718T:p.R240C . . . . . . 0.3072 0.1252 0.3526 0.4733 0.2637 0.2990 0.3168 0.3536 0.23 0.12 0.28 0.2 0.21 rs3824733 COSM3751801 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2749 0.0931 0.3234 0.2187 0.4703 0.2132 0.2588 0.2618 0.3225 0.2256 0.1094 0.2857 0.2714 0.4751 0.2340 0.2616 0.2565 het 1340.11 212 10 47087501 . C T 1340.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.672;DP=212;DS;Dels=0.00;FS=1.980;HRun=0;HaplotypeScore=5.2610;MQ=59.00;MQ0=0;MQRankSum=-1.276;QD=6.32;ReadPosRankSum=0.078;VQSLOD=2.7495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:155,56:212:99:1370,0,3985 10 47087608 47087608 T C exonic NPY4R;NPY4R2 synonymous SNV NPY4R2:NM_001278795:exon1:c.T825C:p.A275A,NPY4R:NM_001278794:exon2:c.T825C:p.A275A,NPY4R:NM_005972:exon3:c.T825C:p.A275A 0.96 0.87 0.99 1. 1. 1. 0.9890 0.8853 0.9940 0.9983 0.9998 0.9994 0.9912 0.9995 0.96 0.89 1. 0.87 0.98 rs1936339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9910 0.8821 0.9935 0.9969 0.9975 1.0000 0.9995 0.9912 0.9990 0.9686 0.8913 0.9940 0.9934 0.9981 1 0.9995 0.9939 hom 4220.75 139 10 47087608 . T C 4220.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.241;DP=139;Dels=0.00;FS=3.464;HRun=1;HaplotypeScore=6.6459;MQ=58.82;MQ0=0;MQRankSum=0.181;QD=30.37;ReadPosRankSum=-1.448;VQSLOD=2.5619;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,137:139:99:4181,325,0 10 47087680 47087680 C T exonic NPY4R;NPY4R2 synonymous SNV NPY4R2:NM_001278795:exon1:c.C897T:p.H299H,NPY4R:NM_001278794:exon2:c.C897T:p.H299H,NPY4R:NM_005972:exon3:c.C897T:p.H299H . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 0.599 0.017 1.000 0.747 0.517 0.208 0 -4.64 0.031 -0.219 0.092 -0.149 0.108 0.718 0.286 0.981 0.494 11.568 0.499 GPCR\x2c rhodopsin-like\x2c 7TM . . . . . . . . . . . . . . . . . . . hom 4151.40 119 10 47087680 . C T 4151.40 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.98;MQ0=0;QD=34.89;VQSLOD=8.7307;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:4151,337,0 10 47087731 47087731 C T exonic NPY4R;NPY4R2 synonymous SNV NPY4R2:NM_001278795:exon1:c.C948T:p.C316C,NPY4R:NM_001278794:exon2:c.C948T:p.C316C,NPY4R:NM_005972:exon3:c.C948T:p.C316C . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 0.595 0.022 1.000 0.747 0.516 0.203 0 -7.75 0.011 0.056 0.140 -2.907 0.002 0.447 0.263 0.701 0.310 15.829 0.784 GPCR\x2c rhodopsin-like\x2c 7TM . . . . . . . . . . . . . . . . . . . hom 3896.45 120 10 47087731 . C T 3896.45 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;QD=32.47;VQSLOD=8.6306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3896,319,0 10 47087830 47087830 G A exonic NPY4R;NPY4R2 synonymous SNV NPY4R2:NM_001278795:exon1:c.G1047A:p.S349S,NPY4R:NM_001278794:exon2:c.G1047A:p.S349S,NPY4R:NM_005972:exon3:c.G1047A:p.S349S 0.83 0.8 0.82 0.99 0.72 0.81 0.7540 0.7838 0.8755 0.9878 0.7048 0.6942 0.7445 0.7895 . . . 0.73 0.74 rs1129839 COSM4594926 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7576 0.7825 0.8591 0.6822 0.9891 0.7072 0.6968 0.7464 0.7882 0.7434 0.7880 0.8182 0.6887 0.9926 0.7149 0.6942 0.7402 hom 5484.81 171 10 47087830 . G A 5484.81 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6113;MQ=59.73;MQ0=0;QD=32.07;VQSLOD=9.4437;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5484,421,0 10 48370595 48370595 G A exonic ZNF488 synonymous SNV ZNF488:NM_153034:exon2:c.G63A:p.G21G,ZNF488:NM_001346933:exon3:c.G63A:p.G21G,ZNF488:NM_001346934:exon3:c.G63A:p.G21G,ZNF488:NM_001346935:exon3:c.G63A:p.G21G,ZNF488:NM_001346936:exon3:c.G63A:p.G21G,ZNF488:NM_001346932:exon4:c.G63A:p.G21G 0.37 0.34 0.24 0.48 0.33 0.41 0.3496 0.3478 0.2728 0.4993 0.3032 0.3231 0.3651 0.4532 0.34 0.34 0.33 0.41 0.3 rs11204210 COSM427587 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3438 0.3452 0.2689 0.3637 0.5031 0.3096 0.3207 0.3420 0.4376 0.3381 0.3453 0.2763 0.3433 0.4975 0.2993 0.3291 0.3371 het 2059.83 149 10 48370595 . G A 2059.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.331;DP=149;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7178;MQ=59.59;MQ0=0;MQRankSum=-0.474;QD=13.82;ReadPosRankSum=0.117;VQSLOD=6.1340;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,77:149:99:2090,0,2059 10 48370747 48370747 C T exonic ZNF488 nonsynonymous SNV ZNF488:NM_153034:exon2:c.C215T:p.A72V,ZNF488:NM_001346933:exon3:c.C215T:p.A72V,ZNF488:NM_001346934:exon3:c.C215T:p.A72V,ZNF488:NM_001346935:exon3:c.C215T:p.A72V,ZNF488:NM_001346936:exon3:c.C215T:p.A72V,ZNF488:NM_001346932:exon4:c.C215T:p.A72V 0.089 0.067 0.076 0.072 0.12 0.11 0.1220 0.0861 0.0701 0.0940 0.0968 0.1387 0.1163 0.1383 0.13 0.088 0.15 0.098 0.11 rs35618062 COSM3751804 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1198 0.0837 0.0740 0.1248 0.0950 0.0972 0.1411 0.1174 0.1389 0.1153 0.0797 0.0931 0.1424 0.1106 0.1040 0.1394 0.1224 het 423.58 40 10 48370747 . C T 423.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DP=40;Dels=0.00;FS=7.521;HRun=0;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;MQRankSum=0.787;QD=10.59;ReadPosRankSum=-1.256;VQSLOD=4.4022;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,16:40:99:454,0,655 10 48371277 48371277 C T exonic ZNF488 nonsynonymous SNV ZNF488:NM_153034:exon2:c.C745T:p.P249S,ZNF488:NM_001346933:exon3:c.C745T:p.P249S,ZNF488:NM_001346934:exon3:c.C745T:p.P249S,ZNF488:NM_001346935:exon3:c.C745T:p.P249S,ZNF488:NM_001346936:exon3:c.C745T:p.P249S,ZNF488:NM_001346932:exon4:c.C745T:p.P249S 0.082 0.067 0.065 0.07 0.1 0.1 0.1088 0.0775 0.0634 0.0936 0.0871 0.1210 0.1035 0.1275 0.11 0.082 0.13 0.11 0.16 rs3814160 COSM3751805 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1081 0.0786 0.0661 0.1199 0.0951 0.0888 0.1241 0.1064 0.1282 0.1038 0.0745 0.0859 0.1242 0.1134 0.0956 0.1220 0.1094 het 1382.13 103 10 48371277 . C T 1382.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.274;DP=103;Dels=0.00;FS=3.964;HRun=0;HaplotypeScore=3.6787;MQ=59.37;MQ0=0;MQRankSum=-0.293;QD=13.42;ReadPosRankSum=1.685;VQSLOD=4.6181;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,57:103:99:1412,0,1269 10 48387980 48387980 G A exonic RBP3 synonymous SNV RBP3:NM_002900:exon1:c.C2898T:p.S966S . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n -0.088 -0.182 0.476 0.207 0.516 0.203 0 -4.63 0.031 -2.555 0.010 -2.732 0.002 0.000 0.063 0.048 0.163 8.566 0.325 ClpP/crotonase-like domain . . . . . . . . . . . . . . . . . . . het 1582.85 122 10 48387980 . G A 1582.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.395;DP=122;Dels=0.00;FS=0.724;HRun=0;HaplotypeScore=4.1827;MQ=59.69;MQ0=0;MQRankSum=-0.497;QD=12.97;ReadPosRankSum=0.295;VQSLOD=5.5896;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,60:122:99:1613,0,1545 10 48390041 48390041 C T exonic RBP3 synonymous SNV RBP3:NM_002900:exon1:c.G837A:p.T279T 0.13 0.22 0.073 0.058 0.091 0.16 0.1118 0.2224 0.0594 0.0849 0.0856 0.1001 0.1019 0.1534 0.14 0.21 0.1 0.14 0.09 rs2376635 . . Benign|Likely benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000173287.1|RCV000300475.1 MedGen|MedGen CN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1055 0.2156 0.0604 0.1051 0.0842 0.0843 0.0989 0.0981 0.1527 0.1296 0.2109 0.0680 0.1159 0.0994 0.0899 0.1001 0.1061 het 666.02 53 10 48390041 . C T 666.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.635;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=58.46;MQ0=0;MQRankSum=-0.724;QD=12.57;ReadPosRankSum=0.902;VQSLOD=5.7138;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:696,0,794 10 49447720 49447720 G A exonic FRMPD2 nonsynonymous SNV FRMPD2:NM_001318191:exon5:c.C644T:p.T215M,FRMPD2:NM_001018071:exon7:c.C716T:p.T239M 0.0024 . 0.0072 . 0.005 0.002 0.0031 0.0004 0.0015 0 0.0048 0.0039 0.0068 0.0036 0.0022 0.0002 0.0031 . . rs55802136 . . . . . . . . . . . . . 0.068 0.357 T 0.871 0.506 P 0.281 0.386 B . . . 1.000 0.186 N 1.5 0.380 L -0.12 0.656 T -2.06 0.471 N 0.071 0.059 -0.940 0.426 T 0.136 0.452 T 0.017 0.391 T 1.550 0.248 13.58 0.975 0.340 0.117 0.166 N c -0.340 -0.422 0.945 0.276 0.554 0.246 0 1.98 0.252 1.017 0.294 -0.328 0.075 0.050 0.212 0.205 0.218 7.217 0.250 . . . 0.0030 0.0003 0.0020 0.0011 5.802e-05 0.0039 0.0039 0.0033 0.0036 0.0031 0.0005 0.0012 0 0 0.0034 0.0047 0.0081 het 675.89 80 10 49447720 . G A 675.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.271;DP=80;Dels=0.00;FS=0.893;HRun=0;HaplotypeScore=1.6208;MQ=59.18;MQ0=0;MQRankSum=0.472;QD=8.45;ReadPosRankSum=1.317;VQSLOD=5.4926;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,30:80:99:706,0,1212 10 49687800 49687800 G A exonic ARHGAP22 synonymous SNV ARHGAP22:NM_001256026:exon2:c.C60T:p.A20A,ARHGAP22:NM_001256024:exon4:c.C330T:p.A110A,ARHGAP22:NM_001256025:exon4:c.C348T:p.A116A,ARHGAP22:NM_021226:exon4:c.C330T:p.A110A,ARHGAP22:NM_001347738:exon5:c.C348T:p.A116A 0.79 0.49 0.88 0.94 0.87 0.89 0.8574 0.5634 0.9317 0.9205 0.8839 0.8705 0.8686 0.8773 0.75 0.55 0.85 0.72 0.76 rs4080665 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8565 0.5290 0.9226 0.8328 0.9174 0.8810 0.8637 0.8682 0.8665 0.7768 0.5497 0.8890 0.8046 0.9069 0.8771 0.8578 0.8776 hom 780.08 24 10 49687800 . G A 780.08 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=32.50;VQSLOD=9.2333;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:63.20:813,63,0 10 50121721 50121721 G A exonic LRRC18 synonymous SNV LRRC18:NM_001006939:exon1:c.C480T:p.P160P 0.12 0.16 0.095 0.002 0.14 0.17 0.1208 0.1655 0.0622 0.0005 0.1339 0.1255 0.1219 0.1721 0.15 0.16 0.14 0.12 0.23 rs35986885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1202 0.1611 0.0705 0.1876 0.0003 0.1365 0.1238 0.1307 0.1730 0.1295 0.1650 0.0895 0.1788 0.0012 0.1452 0.1208 0.1222 het 637.01 49 10 50121721 . G A 637.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.201;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=-0.312;QD=13.00;ReadPosRankSum=-0.915;VQSLOD=6.7204;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,22:49:99:667,0,753 10 50121760 50121760 G A exonic LRRC18 synonymous SNV LRRC18:NM_001006939:exon1:c.C441T:p.H147H 0.11 0.15 0.094 0.002 0.15 0.17 0.1198 0.1494 0.0632 0.0005 0.1339 0.1260 0.1244 0.1722 0.14 0.14 0.14 0.12 0.21 rs41283291 COSM4144727 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1195 0.1447 0.0702 0.1938 0.0003 0.1366 0.1241 0.1312 0.1730 0.1258 0.1502 0.0909 0.1854 0.0012 0.1449 0.1215 0.1212 het 768.08 65 10 50121760 . G A 768.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.287;DP=65;Dels=0.00;FS=10.726;HRun=0;HaplotypeScore=0.5784;MQ=59.71;MQ0=0;MQRankSum=0.020;QD=11.82;ReadPosRankSum=-0.495;VQSLOD=4.3387;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,29:65:99:798,0,954 10 50121784 50121784 T C exonic LRRC18 synonymous SNV LRRC18:NM_001006939:exon1:c.A417G:p.T139T 0.63 0.68 0.53 0.73 0.49 0.64 0.5310 0.6333 0.4957 0.7274 0.5177 0.4762 0.5515 0.6136 0.54 0.63 0.49 0.42 0.48 rs10776653 COSM4144728 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5324 0.6281 0.5065 0.5922 0.7294 0.5208 0.4703 0.5362 0.6158 0.5328 0.6212 0.5144 0.5894 0.7323 0.5344 0.4602 0.5256 het 832.85 72 10 50121784 . T C 832.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.280;DP=72;Dels=0.00;FS=8.508;HRun=0;HaplotypeScore=2.3046;MQ=59.74;MQ0=0;MQRankSum=0.705;QD=11.57;ReadPosRankSum=0.389;VQSLOD=4.0464;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,34:72:99:863,0,996 10 50122109 50122109 C T exonic LRRC18 nonsynonymous SNV LRRC18:NM_001006939:exon1:c.G92A:p.R31H 0.11 0.14 0.095 0.002 0.14 0.17 0.1190 0.1475 0.0617 0.0006 0.1339 0.1252 0.1225 0.1720 0.14 0.14 0.14 0.12 0.23 rs17772611 . . . . . . . . . . . . . 0.009 0.574 D 1.0 0.899 D 1.0 0.971 D 0.000 0.559 D 0.000 0.810 P 1 0.253 L 0.68 0.520 T -2.27 0.543 N 0.543 0.580 -1.107 0.033 T 0.001 0.004 T . . . 7.206 0.945 34 0.999 0.999 0.988 0.874 D c 0.648 0.719 1.000 0.747 0.447 0.083 0 6.06 0.983 7.764 0.840 0.935 0.490 1.000 0.715 0.995 0.604 20.640 0.995 Leucine-rich repeat domain\x2c L domain-like . . 0.1190 0.1438 0.0698 0.1874 0.0006 0.1365 0.1238 0.1302 0.1730 0.1253 0.1496 0.0907 0.1788 0.0012 0.1454 0.1211 0.1214 het 1313.28 109 10 50122109 . C T 1313.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.800;DP=109;Dels=0.00;FS=1.559;HRun=0;HaplotypeScore=0.8941;MQ=59.79;MQ0=0;MQRankSum=2.585;QD=12.05;ReadPosRankSum=-0.302;VQSLOD=5.6206;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,51:109:99:1343,0,1551 10 50227785 50227785 T C exonic VSTM4 synonymous SNV VSTM4:NM_001031746:exon8:c.A873G:p.E291E 0.94 0.77 0.97 1. 1. 1. 0.9831 0.8153 0.9914 1 1 0.9996 0.9956 0.9999 0.94 0.83 1. 0.91 0.93 rs1913525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9868 0.8129 0.9908 0.9989 1 1 0.9997 0.9916 0.9998 0.9494 0.8225 0.9916 0.9967 1 1 0.9997 0.9939 hom 1661.34 52 10 50227785 . T C 1661.34 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9726;MQ=60.00;MQ0=0;QD=31.95;VQSLOD=9.0590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1694,132,0 10 50315893 50315893 A G exonic VSTM4 nonsynonymous SNV VSTM4:NM_001031746:exon2:c.T203C:p.F68S,VSTM4:NM_144984:exon2:c.T203C:p.F68S 0.5 0.78 0.48 0.24 0.39 0.5 0.4294 0.7126 0.4437 0.2081 0.3685 0.4037 0.4106 0.4863 0.5 0.71 0.39 0.55 0.41 rs13088 COSM3997997;COSM3997996 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.974 0.020 T 0.0 0.026 B 0.001 0.040 B 0.080 0.210 N 1 0.090 P 0 0.065 N -0.01 0.628 T 2.9 0.002 N 0.021 0.005 -0.919 0.457 T 0.000 0.000 T . . . -0.726 0.044 0.063 0.222 0.009 0.010 0.037 N c -1.591 -1.605 1.000 0.517 0.534 0.214 0 1.75 0.236 0.870 0.275 -1.072 0.019 0.379 0.258 0.001 0.043 4.404 0.107 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000172538.6|ENSG00000165633.8|ENSG00000165633.8|ENSG00000172538.6|ENSG00000204161.9 Lung|Spleen|Testis|Testis|Whole_Blood 0.4230 0.7116 0.4462 0.4471 0.2070 0.3716 0.4010 0.4221 0.4845 0.4675 0.7013 0.4713 0.3841 0.1908 0.3708 0.3879 0.4254 het 1066.66 94 10 50315893 . A G 1066.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.328;DP=94;Dels=0.00;FS=0.794;HRun=1;HaplotypeScore=2.4691;MQ=59.36;MQ0=0;MQRankSum=0.096;QD=11.35;ReadPosRankSum=-0.251;VQSLOD=6.7934;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,42:94:99:1097,0,1411 10 50531604 50531604 T C exonic C10orf71 synonymous SNV C10orf71:NM_001135196:exon3:c.T1014C:p.L338L 0.96 0.85 0.98 1. 1. 1. 0.9885 0.8690 0.9944 1 0.9998 0.9996 0.9955 0.9999 0.96 0.88 1. 0.81 . rs7093235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9905 0.8715 0.9929 0.9984 1 1.0000 0.9996 0.9938 0.9997 0.9657 0.8804 0.9893 0.9967 1 1 0.9996 0.9949 hom 2809.04 95 10 50531604 . T C 2809.04 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5774;MQ=59.17;MQ0=0;QD=29.57;VQSLOD=8.9010;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2842,238,0 10 50532683 50532683 T C exonic C10orf71 nonsynonymous SNV C10orf71:NM_001135196:exon3:c.T2093C:p.F698S 0.96 0.87 0.98 1. 1. 1. 0.9905 0.8894 0.9945 1 1 0.9997 0.9955 1 0.97 0.89 1. 0.95 . rs7921186 . . . . . . . . . . . . . 0.315 0.138 T . . . . . . 0.004 0.340 N 1.000 0.588 P -1.7 0.004 N 4.01 0.032 T 3.01 0.001 N 0.054 0.036 -0.906 0.473 T 0.000 0.000 T . . . 2.898 0.409 21.8 0.544 0.050 0.109 0.161 N c -0.260 -0.059 1.000 0.416 0.526 0.212 0 5.64 0.864 2.448 0.443 0.040 0.155 0.994 0.380 0.996 0.625 9.935 0.405 . . . 0.9921 0.8909 0.9934 0.9984 1 1 0.9997 0.9947 0.9999 0.9707 0.8984 0.9905 0.9967 1 1 0.9996 0.9949 hom 2680.28 89 10 50532683 . T C 2680.28 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.56;MQ0=0;QD=30.12;VQSLOD=9.2083;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2713,208,0 10 50681033 50681033 G A exonic ERCC6 synonymous SNV ERCC6:NM_000124:exon15:c.C2751T:p.G917G,ERCC6:NM_001346440:exon15:c.C2751T:p.G917G 0.25 0.089 0.3 0.32 0.39 0.24 0.3370 0.1319 0.2726 0.3139 0.3761 0.4011 0.3711 0.2472 0.32 0.15 0.41 0.26 0.39 rs2229760 COSM146934 1(haematopoietic_and_lymphoid_tissue);1(stomach);12(soft_tissue);1(pancreas);1(large_intestine) other|Benign|Benign|Benign not_specified|Cockayne_syndrome|Cerebrooculofacioskeletal_Syndrome|Macular_degeneration RCV000116996.5|RCV000291726.1|RCV000346580.1|RCV000392253.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen|Human_Phenotype_Ontology:MedGen CN169374|C0009207:ORPHA191:21086008|CN239231|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3400 0.1300 0.2749 0.3318 0.3115 0.3813 0.4101 0.3705 0.2447 0.3151 0.1333 0.3031 0.3609 0.3171 0.3835 0.4024 0.3494 het 860.93 89 10 50681033 . G A 860.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.764;DP=89;Dels=0.00;FS=9.235;HRun=0;HaplotypeScore=2.5141;MQ=59.53;MQ0=0;MQRankSum=-0.176;QD=9.67;ReadPosRankSum=-1.744;VQSLOD=4.0512;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,34:89:99:891,0,1369 10 50723684 50723684 G A exonic ERCC6;PGBD3 synonymous SNV PGBD3:NM_170753:exon2:c.C1477T:p.L493L,ERCC6:NM_001277058:exon6:c.C2881T:p.L961L,ERCC6:NM_001277059:exon6:c.C2881T:p.L961L 0.89 0.73 0.94 1. 0.9 0.96 0.9070 0.7300 0.9476 0.9992 0.9286 0.9034 0.9152 0.9475 0.85 0.74 0.9 0.85 0.89 rs4253073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9134 0.7294 0.9477 0.8721 0.9994 0.9285 0.9064 0.9141 0.9465 0.8616 0.7277 0.9368 0.8974 0.9994 0.9319 0.8994 0.9196 het 2201.81 186 10 50723684 . G A 2201.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.374;DP=186;Dels=0.00;FS=4.376;HRun=1;HaplotypeScore=7.2351;MQ=58.97;MQ0=0;MQRankSum=1.290;QD=11.84;ReadPosRankSum=-0.525;VQSLOD=4.4196;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,85:186:99:2232,0,2852 10 50724016 50724016 C T exonic ERCC6;PGBD3 nonsynonymous SNV PGBD3:NM_170753:exon2:c.G1145A:p.R382K,ERCC6:NM_001277058:exon6:c.G2549A:p.R850K,ERCC6:NM_001277059:exon6:c.G2549A:p.R850K 1. 0.99 1. 1. 1. 1. 0.9983 0.9832 0.9982 1 1 0.9998 0.9989 0.9999 0.99 0.98 1. 1. 1. rs4253072 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.102 B 0.0 0.013 B . . . 1 0.090 P -0.75 0.017 N 2.35 0.162 T 1.15 0.027 N 0.013 0.002 -1.056 0.127 T 0.000 0.000 T . . . 0.120 0.105 3.819 0.861 0.158 0.000 0.003 N c -1.418 -1.430 0.772 0.237 0.707 0.730 0 0.699 0.172 -1.255 0.030 -0.261 0.088 0.000 0.063 0.923 0.397 . . PiggyBac transposable element-derived protein . . 0.9986 0.9829 0.9984 1 1 1 0.9997 0.9985 0.9999 0.9951 0.9835 1 1 1 1 0.9998 0.9959 hom 6073.02 195 10 50724016 . C T 6073.02 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=31.14;VQSLOD=9.2337;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6072,466,0 10 50740876 50740876 G C exonic ERCC6 synonymous SNV ERCC6:NM_000124:exon2:c.C135G:p.L45L,ERCC6:NM_001277058:exon2:c.C135G:p.L45L,ERCC6:NM_001277059:exon2:c.C135G:p.L45L,ERCC6:NM_001346440:exon2:c.C135G:p.L45L 0.59 0.33 0.67 0.51 0.73 0.82 0.6946 0.3800 0.6211 0.5379 0.7651 0.7399 0.7285 0.8132 0.63 0.4 0.74 0.56 0.72 rs2228524 . . other|Benign|Benign|Benign not_specified|Cerebrooculofacioskeletal_Syndrome|Macular_degeneration|Cockayne_syndrome RCV000116995.5|RCV000309121.1|RCV000367258.1|RCV000403290.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen:Orphanet:SNOMED_CT CN169374|CN239231|HP:0000608:C0024437|C0009207:ORPHA191:21086008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6995 0.3767 0.6345 0.7140 0.5300 0.7661 0.7439 0.7226 0.8081 0.6264 0.3820 0.6595 0.7219 0.5217 0.7570 0.7389 0.7286 het 1989.67 175 10 50740876 . G C 1989.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.242;DP=175;Dels=0.00;FS=2.705;HRun=0;HaplotypeScore=7.7438;MQ=59.47;MQ0=0;MQRankSum=-0.169;QD=11.37;ReadPosRankSum=-0.448;VQSLOD=3.8735;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,71:175:99:2020,0,2939 10 50820345 50820345 C A exonic SLC18A3 nonsynonymous SNV SLC18A3:NM_003055:exon1:c.C1559A:p.A520E 1. 0.99 1. 1. 1. 1. 0.9989 0.9873 0.9997 1 1 1.0000 1 1 1. 0.99 1. 0.99 0.98 rs8187730 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.759 0.065 N 0.999 0.214 P 0.55 0.145 N 3.7 0.041 T 0.18 0.050 N 0.039 0.019 -1.009 0.271 T 0.000 0.000 T . . . 0.311 0.124 5.796 0.865 0.160 0.027 0.072 N c -1.750 -1.727 0.910 0.263 0.598 0.340 0 -2.77 0.055 -0.033 0.121 -0.780 0.033 0.009 0.180 0.124 0.197 6.888 0.232 . . . 0.9992 0.9879 0.9996 1 1 1 1 0.9998 1 0.9968 0.9886 1 1 1 1 1 0.9990 hom 6750.51 217 10 50820345 . C A 6750.51 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7163;MQ=59.51;MQ0=0;QD=31.11;VQSLOD=8.9840;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6749,542,0 10 50824117 50824117 G A exonic CHAT nonsynonymous SNV CHAT:NM_001142933:exon2:c.G19A:p.D7N 0.16 0.0061 0.17 0.17 0.23 0.28 0.2112 0.0455 0.1325 0.1459 0.1855 0.2425 0.2133 0.2828 0.19 0.05 0.25 0.16 . rs1880676 COSM1582999 1(meninges);1(large_intestine) Benign not_specified RCV000454676.1 MedGen CN169374 . . . . . . 0.0 0.912 D . . . . . . . . . 1 0.279 P . . . -1.94 0.849 D 0.13 0.055 N 0.043 0.028 -1.149 0.010 T 0.000 0.001 T . . . 0.418 0.134 6.772 0.995 0.659 0.192 0.203 N c -0.306 -0.459 0.995 0.337 0.598 0.340 0 3.16 0.353 1.431 0.343 0.883 0.387 0.004 0.165 0.007 0.100 10.069 0.413 . . . 0.2100 0.0412 0.1442 0.2424 0.1452 0.1826 0.2471 0.2195 0.2750 0.1692 0.0460 0.1695 0.2517 0.1360 0.1761 0.2375 0.2265 het 4049.94 248 10 50824117 . G A 4049.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.622;DP=248;DS;Dels=0.00;FS=5.356;HRun=1;HaplotypeScore=3.5043;MQ=60.00;MQ0=0;MQRankSum=0.209;QD=16.33;ReadPosRankSum=-1.076;VQSLOD=4.7689;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:118,130:248:99:3438,0,3186 10 50824619 50824619 G A exonic CHAT nonsynonymous SNV CHAT:NM_001142929:exon2:c.G4A:p.A2T,CHAT:NM_020549:exon2:c.G358A:p.A120T,CHAT:NM_020984:exon2:c.G4A:p.A2T,CHAT:NM_020986:exon2:c.G4A:p.A2T,CHAT:NM_001142933:exon3:c.G112A:p.A38T,CHAT:NM_001142934:exon3:c.G4A:p.A2T,CHAT:NM_020985:exon3:c.G4A:p.A2T 0.16 0.0053 0.17 0.17 0.23 0.28 0.2269 0.0518 0.1436 0.1631 0.2085 0.2576 0.2389 0.3032 0.18 0.052 0.25 0.16 0.14 rs3810950 COSM3751842;COSM3751841 1(pancreas);1(large_intestine) Benign not_specified RCV000116697.4 MedGen CN169374 . . . . . . 0.127 0.270 T 0.13 0.255 B 0.109 0.298 B 0.327 0.142 N 1 0.090 P 0.695 0.181 N -2.05 0.858 D 0.03 0.066 N 0.089 0.185 -1.089 0.057 T 0.000 0.000 T . . . 1.030 0.193 10.83 0.835 0.143 0.158 0.189 N c -0.777 -0.722 0.993 0.330 0.598 0.340 0 3.03 0.339 1.336 0.332 0.079 0.188 0.005 0.169 0.027 0.143 5.388 0.154 . . . 0.2077 0.0402 0.1440 0.2410 0.1439 0.1808 0.2442 0.2178 0.2726 0.1692 0.0461 0.1691 0.2467 0.1363 0.1760 0.2378 0.2259 het 600.63 52 10 50824619 . G A 600.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.669;DP=52;Dels=0.00;FS=4.176;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=1.473;QD=11.55;ReadPosRankSum=1.784;VQSLOD=4.8729;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,26:52:99:631,0,736 10 50856652 50856652 G A exonic CHAT nonsynonymous SNV CHAT:NM_001142929:exon9:c.G1027A:p.V343M,CHAT:NM_020549:exon9:c.G1381A:p.V461M,CHAT:NM_020984:exon9:c.G1027A:p.V343M,CHAT:NM_020986:exon9:c.G1027A:p.V343M,CHAT:NM_001142933:exon10:c.G1135A:p.V379M,CHAT:NM_001142934:exon10:c.G1027A:p.V343M,CHAT:NM_020985:exon10:c.G1027A:p.V343M 0.97 0.88 0.99 1. 1. 1. 0.9896 0.8866 0.9950 1 1 0.9995 0.9966 0.9999 0.96 0.89 1. 0.95 0.95 rs4838544 . . Benign not_specified RCV000180671.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.009 0.207 B 0.005 0.104 B 0.000 0.843 N 1.000 0.206 P -1.485 0.005 N -2.48 0.891 D 0.97 0.015 N 0.058 0.285 -0.922 0.452 T 0.000 0.000 T . . . 1.428 0.234 12.93 0.077 0.000 0.242 0.221 N c -0.815 -0.569 1.000 0.747 0.497 0.185 0 3.87 0.437 5.304 0.653 0.168 0.246 1.000 0.715 0.996 0.625 9.554 0.383 . . . 0.9915 0.8829 0.9933 0.9987 1 1 0.9995 0.9952 0.9998 0.9673 0.8860 0.9940 1 1 1 0.9997 0.9919 hom 964.58 32 10 50856652 . G A 964.58 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.14;VQSLOD=14.1442;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.24:998,81,0 10 50863147 50863147 T C exonic CHAT synonymous SNV CHAT:NM_001142929:exon12:c.T1287C:p.H429H,CHAT:NM_020549:exon12:c.T1641C:p.H547H,CHAT:NM_020984:exon12:c.T1287C:p.H429H,CHAT:NM_020986:exon12:c.T1287C:p.H429H,CHAT:NM_001142933:exon13:c.T1395C:p.H465H,CHAT:NM_001142934:exon13:c.T1287C:p.H429H,CHAT:NM_020985:exon13:c.T1287C:p.H429H 0.79 0.68 0.74 0.82 0.89 0.85 0.8491 0.6932 0.6662 0.7947 0.8888 0.9042 0.8620 0.8649 0.84 0.7 0.91 0.79 0.88 rs8178992 COSM4144745;COSM4144746 1(thyroid) Benign not_specified RCV000116692.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8446 0.6833 0.6765 0.8587 0.8011 0.8905 0.9068 0.8636 0.8658 0.8304 0.6851 0.6945 0.8767 0.7926 0.8949 0.9081 0.8676 hom 4671.28 142 10 50863147 . T C 4671.28 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3180;MQ=58.62;MQ0=0;QD=32.90;VQSLOD=8.8744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4671,367,0 10 50901917 50901917 C A exonic C10orf53 stopgain C10orf53:NM_001042427:exon2:c.C195A:p.C65X,C10orf53:NM_182554:exon2:c.C195A:p.C65X 0.0008 0.0008 . . 0.002 0.001 0.0018 0.0009 0.0004 0 0.0021 0.0026 0 0.0007 0.0016 0.0005 0.0022 . 0.0082 rs145689841 . . . . . . . . . . . . . . . . . . . . . . 0.000 0.629 D 1 0.810 D . . . . . . . . . . . . . . . . . . . . 10.228 0.966 36 0.993 0.587 0.799 0.394 D c 0.489 0.312 0.011 0.121 0.447 0.083 0 1.62 0.227 0.305 0.189 -0.230 0.094 0.998 0.411 0.598 0.288 8.191 0.304 . . . 0.0018 0.0007 0.0004 0 0 0.0025 0.0031 0.0015 0.0006 0.0020 0.0005 0 0 0 0.0017 0.0034 0.0020 het 1481.90 148 10 50901917 . C A 1481.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.519;DP=148;Dels=0.00;FS=7.708;HRun=2;HaplotypeScore=2.7258;MQ=59.59;MQ0=0;MQRankSum=-0.685;QD=10.01;ReadPosRankSum=0.956;VQSLOD=2.6905;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,58:148:99:1512,0,2447 10 50901938 50901938 C T exonic C10orf53 synonymous SNV C10orf53:NM_001042427:exon2:c.C216T:p.F72F,C10orf53:NM_182554:exon2:c.C216T:p.F72F 0.35 0.37 0.37 0.14 0.48 0.41 0.4257 0.3756 0.3198 0.1489 0.4890 0.4722 0.4460 0.4618 0.44 0.38 0.47 0.46 0.48 rs1133837 COSM3751843;COSM3751845;COSM3751844 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4253 0.3739 0.3305 0.5061 0.1521 0.4746 0.4736 0.4637 0.4635 0.4349 0.3829 0.3628 0.4834 0.1485 0.4759 0.489 0.4420 het 1286.28 138 10 50901938 . C T 1286.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.611;DP=138;Dels=0.00;FS=6.875;HRun=2;HaplotypeScore=3.6141;MQ=59.56;MQ0=0;MQRankSum=-0.266;QD=9.32;ReadPosRankSum=1.382;VQSLOD=4.3083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,52:138:99:1316,0,2117 10 50916484 50916484 A G exonic C10orf53 nonsynonymous SNV C10orf53:NM_182554:exon3:c.A295G:p.R99G 0.81 0.51 0.91 0.96 0.94 0.84 0.8956 0.5744 0.9556 0.9667 0.9170 0.9362 0.9075 0.8454 0.82 0.6 0.94 0.74 0.91 rs1258236 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . . . . -0.14 0.092 N 0.011 0.003 -0.987 0.333 T 0.000 0.000 T . . . 0.577 0.149 7.996 0.116 0.002 0.001 0.006 N c -2.076 -2.141 0.021 0.134 0.487 0.133 0 -3.66 0.042 -2.021 0.015 -1.665 0.008 0.000 0.063 0.000 0.016 4.902 0.130 . . . 0.9041 0.5723 0.9489 0.8963 0.9688 0.9240 0.9381 0.9120 0.8497 0.8406 0.5866 0.9415 0.8907 0.9579 0.9358 0.9417 0.9124 hom 6147.73 185 10 50916484 . A G 6147.73 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.8267;MQ=59.51;MQ0=0;QD=33.23;VQSLOD=6.1759;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,184:185:99:6118,475,0 10 50916542 50916542 C T exonic C10orf53 nonsynonymous SNV C10orf53:NM_182554:exon3:c.C353T:p.T118I 0.39 0.44 0.46 0.15 0.49 0.42 0.4481 0.4354 0.4321 0.1669 0.4557 0.4894 0.4736 0.4430 0.47 0.45 0.48 0.43 0.52 rs4838554 COSM5002550 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . . . . -0.09 0.084 N 0.024 0.010 -0.917 0.460 T 0.000 0.000 T . . . -0.146 0.080 1.409 0.044 0.000 0.000 0.004 N c -1.734 -1.798 0.001 0.074 0.487 0.133 0 -0.507 0.113 -0.921 0.041 -0.349 0.070 0.000 0.063 0.000 0.016 4.466 0.110 . ENSG00000197444.5 Heart_Atrial_Appendage 0.4487 0.4395 0.4336 0.5844 0.1659 0.4447 0.4870 0.4844 0.4455 0.4605 0.4459 0.4320 0.5467 0.1784 0.4516 0.5023 0.4459 het 2751.54 241 10 50916542 . C T 2751.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.061;DP=241;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6433;MQ=59.71;MQ0=0;MQRankSum=0.130;QD=11.42;ReadPosRankSum=0.484;VQSLOD=6.5232;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,105:241:99:2782,0,3573 10 50950976 50950976 G A exonic OGDHL nonsynonymous SNV OGDHL:NM_001143997:exon13:c.C1283T:p.T428M,OGDHL:NM_001347822:exon13:c.C1283T:p.T428M,OGDHL:NM_001347826:exon13:c.C713T:p.T238M,OGDHL:NM_001143996:exon14:c.C1739T:p.T580M,OGDHL:NM_001347820:exon14:c.C1739T:p.T580M,OGDHL:NM_001347823:exon14:c.C1730T:p.T577M,OGDHL:NM_001347824:exon14:c.C1730T:p.T577M,OGDHL:NM_001347825:exon14:c.C1103T:p.T368M,OGDHL:NM_001347819:exon15:c.C1910T:p.T637M,OGDHL:NM_001347821:exon15:c.C1283T:p.T428M,OGDHL:NM_018245:exon15:c.C1910T:p.T637M 0.21 0.3 0.26 0.041 0.2 0.23 0.1983 0.2795 0.2600 0.0634 0.1414 0.1915 0.1833 0.2251 0.21 0.27 0.18 0.15 0.18 rs11101224 COSM3751847 1(large_intestine) . . . . . . . . . . . 0.136 0.329 T 0.016 0.184 B 0.017 0.201 B 0.498 0.120 N 1 0.090 P 0.385 0.122 N -2.87 0.915 D -2.32 0.566 N 0.06 0.106 -1.089 0.056 T 0.000 0.000 T . . . 0.377 0.130 6.415 0.969 0.309 0.056 0.114 N c -1.033 -1.069 0.017 0.129 0.696 0.567 0 0.022 0.134 -0.478 0.066 0.077 0.185 0.000 0.063 0.027 0.143 5.709 0.171 Dehydrogenase\x2c E1 component|Thiamin diphosphate-binding fold;Thiamin diphosphate-binding fold;Thiamin diphosphate-binding fold|Transketolase-like\x2c pyrimidine-binding domain ENSG00000099290.11|ENSG00000099290.11|ENSG00000197444.5|ENSG00000099290.11|ENSG00000099290.11|ENSG00000197444.5|ENSG00000099290.11|ENSG00000197444.5|ENSG00000197444.5|ENSG00000197444.5|ENSG00000099290.11|ENSG00000099290.11|ENSG00000204149.5|ENSG00000197444.5|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.1981 0.2788 0.2578 0.3058 0.0587 0.1365 0.1859 0.2042 0.2234 0.2079 0.2882 0.2410 0.2649 0.0654 0.1414 0.1925 0.1571 het 1042.14 100 10 50950976 . G A 1042.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.071;DP=100;Dels=0.00;FS=3.649;HRun=0;HaplotypeScore=1.9463;MQ=60.00;MQ0=0;MQRankSum=-1.490;QD=10.42;ReadPosRankSum=-0.197;VQSLOD=5.5019;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,46:100:99:1072,0,1402 10 50960209 50960209 G A exonic OGDHL synonymous SNV OGDHL:NM_001143996:exon4:c.C393T:p.L131L,OGDHL:NM_001347820:exon4:c.C393T:p.L131L,OGDHL:NM_001347819:exon5:c.C564T:p.L188L,OGDHL:NM_001347823:exon5:c.C564T:p.L188L,OGDHL:NM_001347824:exon5:c.C564T:p.L188L,OGDHL:NM_018245:exon5:c.C564T:p.L188L 0.46 0.14 0.48 0.91 0.46 0.43 0.4814 0.1883 0.5567 0.8889 0.4985 0.4771 0.4780 0.4108 0.39 0.2 0.48 0.34 0.4 rs1258184 COSM3751848 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4881 0.1811 0.5485 0.3334 0.8902 0.5104 0.4814 0.4557 0.4135 0.4183 0.1845 0.5418 0.3510 0.8798 0.5137 0.4717 0.4949 het 578.01 71 10 50960209 . G A 578.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.197;DP=71;Dels=0.01;FS=2.069;HRun=1;HaplotypeScore=3.8609;MQ=58.83;MQ0=0;MQRankSum=-0.286;QD=8.03;ReadPosRankSum=-0.334;VQSLOD=5.4448;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,24:71:99:608,0,1248 10 50966447 50966447 C T exonic OGDHL synonymous SNV OGDHL:NM_001143996:exon2:c.G192A:p.Q64Q,OGDHL:NM_001347819:exon2:c.G192A:p.Q64Q,OGDHL:NM_001347820:exon2:c.G192A:p.Q64Q,OGDHL:NM_001347823:exon2:c.G192A:p.Q64Q,OGDHL:NM_001347824:exon2:c.G192A:p.Q64Q,OGDHL:NM_018245:exon2:c.G192A:p.Q64Q 0.0006 0.0008 . . 0.002 . 0.0018 0.0009 0.0005 0 0.0020 0.0026 0 0.0006 0.0024 0.0005 0.0034 . 0.0082 rs145621276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0007 0.0004 0 0 0.0022 0.0032 0.0017 0.0005 0.0021 0.0007 0 0 0 0.0020 0.0033 0.0020 het 1582.01 155 10 50966447 . C T 1582.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.356;DP=155;Dels=0.00;FS=1.367;HRun=1;HaplotypeScore=9.5220;MQ=58.68;MQ0=0;MQRankSum=-0.057;QD=10.21;ReadPosRankSum=-0.203;VQSLOD=2.4891;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,62:155:99:1612,0,2499 10 51827934 51827934 G A exonic WASHC2A nonsynonymous SNV WASHC2A:NM_001005751:exon2:c.G73A:p.V25M,WASHC2A:NM_001291398:exon2:c.G73A:p.V25M,WASHC2A:NM_001330102:exon2:c.G73A:p.V25M 0.31 0.068 0.32 0.33 0.52 0.38 0.4623 0.1690 0.4182 0.3823 0.5759 0.5228 0.5155 0.4085 0.37 0.14 0.47 0.022 0.23 rs55875820 COSM427651 1(pancreas);1(thyroid) . . . . . . . . . . . 0.045 0.424 D 0.181 0.305 B 0.136 0.346 B 0.001 0.426 D 0.275 0.336 P 0.55 0.145 N . . . -0.99 0.262 N 0.069 0.141 -0.916 0.461 T 0.000 0.000 T . . . 4.998 0.672 25.1 0.992 0.534 0.684 0.335 D c -0.188 -0.168 1.000 0.416 0.733 0.969 0 1.65 0.229 2.656 0.461 0.790 0.321 1.000 0.715 1.000 0.888 6.653 0.220 . ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000235618.3|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000235618.3|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11|ENSG00000099290.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid 0.4093 0.1265 0.3548 0.3627 0.3465 0.4929 0.4739 0.4210 0.3777 0.3448 0.1164 0.3453 0.3380 0.3356 0.4308 0.4579 0.4004 het 281.50 12 10 51827934 . G A 281.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.739;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=48.91;MQ0=1;MQRankSum=0.791;QD=23.46;ReadPosRankSum=-0.158;VQSLOD=3.8580;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:1,11:12:0.34:310,0,0 10 52103707 52103707 A G exonic SGMS1 synonymous SNV SGMS1:NM_147156:exon7:c.T168C:p.N56N 0.5 0.52 0.63 0.49 0.53 0.37 0.5201 0.5313 0.6733 0.5153 0.4238 0.5316 0.5275 0.3995 0.53 0.54 0.53 0.52 0.5 rs10763354 COSM4417963 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5231 0.5297 0.6677 0.5275 0.5109 0.4270 0.5330 0.5423 0.3975 0.5137 0.5244 0.6232 0.5728 0.5112 0.4297 0.5205 0.5051 het 1190.44 75 10 52103707 . A G 1190.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.049;DP=75;Dels=0.00;FS=14.537;HRun=0;HaplotypeScore=0.5784;MQ=59.11;MQ0=0;MQRankSum=0.124;QD=15.87;ReadPosRankSum=-0.500;VQSLOD=4.0965;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,44:75:99:1220,0,761 10 53458646 53458646 A C exonic CSTF2T nonsynonymous SNV CSTF2T:NM_015235:exon1:c.T664G:p.C222G 0.0004 . . . 0.002 . 0.0014 0.0006 0.0002 0 0.0050 0.0020 0.0011 0 0.0013 0.0005 0.0017 . . rs143249904 . . . . . . . . . . . . . 0.438 0.093 T 0.0 0.026 B 0.0 0.013 B 0.040 0.240 N 1 0.810 D -0.345 0.033 N 2.17 0.190 T -0.3 0.119 N 0.732 0.730 -1.037 0.182 T 0.025 0.107 T 0.008 0.221 T 0.737 0.164 9.071 0.874 0.167 0.723 0.351 D c -0.336 -0.131 1.000 0.747 0.628 0.401 0 4.27 0.498 1.265 0.324 1.091 0.877 0.998 0.411 0.998 0.697 10.070 0.413 . . . 0.0015 0.0004 0.0002 0.0009 0 0.0054 0.0020 0.0015 0 0.0020 0.0003 0 0 0 0.0074 0.0019 0.0051 het 437.91 30 10 53458646 . A C 437.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.102;DP=30;Dels=0.00;FS=6.429;HRun=1;HaplotypeScore=0.8667;MQ=59.38;MQ0=0;MQRankSum=0.145;QD=14.60;ReadPosRankSum=1.725;VQSLOD=3.4017;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,16:30:99:468,0,416 10 54074757 54074757 A G exonic DKK1 synonymous SNV DKK1:NM_012242:exon2:c.A318G:p.A106A 0.53 0.73 0.46 0.27 0.54 0.54 0.5383 0.7095 0.3881 0.2968 0.4982 0.5721 0.5448 0.5372 0.6 0.7 0.56 0.48 0.48 rs2241529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5145 0.7042 0.3896 0.6443 0.2783 0.4809 0.5561 0.5547 0.5170 0.5553 0.6948 0.4472 0.6490 0.2718 0.4788 0.5297 0.5114 het 584.26 55 10 54074757 . A G 584.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.164;DP=55;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;MQRankSum=0.390;QD=10.62;ReadPosRankSum=0.580;VQSLOD=6.8638;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,27:55:99:614,0,772 10 54528266 54528266 G C exonic MBL2 synonymous SNV MBL2:NM_000242:exon4:c.C378G:p.L126L 0.74 0.64 0.86 0.73 0.8 0.73 0.8041 0.6633 0.8972 0.7616 0.7960 0.8227 0.8063 0.7625 0.77 0.66 0.82 0.72 0.68 rs930507 . . Likely benign|Benign Mannose-binding_protein_deficiency|not_specified RCV000323543.1|RCV000454838.1 MedGen:OMIM|MedGen C1835140:614372|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8074 0.6645 0.8907 0.8665 0.7566 0.7958 0.8216 0.8280 0.7638 0.7698 0.6823 0.8529 0.8377 0.7494 0.8008 0.8073 0.8014 hom 4293.80 143 10 54528266 . G C 4293.80 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5653;MQ=58.50;MQ0=0;QD=30.03;VQSLOD=5.9062;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4293,325,0 10 54531242 54531242 G A exonic MBL2 nonsynonymous SNV MBL2:NM_000242:exon1:c.C154T:p.R52C 0.027 0.0015 0.033 0.001 0.06 0.051 0.0569 0.0110 0.0264 0.0002 0.0584 0.0761 0.0551 0.0594 0.05 0.012 0.069 0.022 0.033 rs5030737 . . Pathogenic Mannose-binding_protein_deficiency RCV000015426.27 MedGen:OMIM C1835140:614372 . . . . . . 0.0 0.912 D 1.0 0.899 D 0.977 0.722 D 0.033 0.250 N 0.993 0.419 A 3.445 0.923 M -3.2 0.932 D -4.94 0.818 D 0.403 0.462 0.062 0.835 D 0.432 0.774 T . . . 6.917 0.933 33 0.999 0.985 0.091 0.148 N c 0.380 0.192 0.999 0.393 0.487 0.133 0 3.07 0.343 0.972 0.288 0.956 0.564 0.002 0.151 0.933 0.406 9.112 0.357 . . . 0.0558 0.0106 0.0257 0.1032 0.0001 0.0584 0.0733 0.0565 0.0619 0.0487 0.0124 0.0358 0.0894 0 0.0578 0.0726 0.0510 het 2058.31 169 10 54531242 . G A 2058.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.752;DP=169;Dels=0.00;FS=8.043;HRun=0;HaplotypeScore=3.7592;MQ=59.13;MQ0=0;MQRankSum=2.422;QD=12.18;ReadPosRankSum=0.616;VQSLOD=4.2164;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,81:169:99:2088,0,2097 10 55568972 55568972 T G exonic PCDH15 unknown UNKNOWN 0.3 0.087 0.3 0.68 0.15 0.34 0.2489 0.1128 0.4098 0.7138 0.1662 0.1709 0.2372 0.3211 0.15 0.12 0.16 0.25 . rs11003863 COSN17131757 1(pancreas) Benign not_specified RCV000037010.2 MedGen CN169374 . . . . . . 0.003 0.682 D 0.012 0.151 B 0.01 0.139 B . . . 0.998 0.588 P . . . 2.22 0.971 T -0.11 0.249 N 0.079 0.124 -0.924 0.450 T 0.000 0.000 T . . . 3.727 0.505 23.3 0.993 0.585 0.860 0.449 D c -0.354 -0.128 0.000 0.041 0.487 0.133 0 4.56 0.555 4.636 0.608 1.061 0.807 0.999 0.424 0.959 0.439 5.579 0.164 . . . 0.2530 0.1133 0.3937 0.1791 0.7048 0.1686 0.1665 0.2155 0.3204 0.1862 0.1169 0.3489 0.1921 0.7057 0.1655 0.1650 0.2041 het 1118.86 66 10 55568972 . T G 1118.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.034;DP=66;Dels=0.00;FS=1.017;HRun=0;HaplotypeScore=4.4816;MQ=57.86;MQ0=0;MQRankSum=0.523;QD=16.95;ReadPosRankSum=0.809;VQSLOD=4.4485;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:25,41:66:99:1149,0,597 10 55755491 55755491 C T exonic PCDH15 nonsynonymous SNV PCDH15:NM_001142765:exon19:c.G2573A:p.R858Q,PCDH15:NM_001142767:exon20:c.G2675A:p.R892Q,PCDH15:NM_001142768:exon20:c.G2720A:p.R907Q,PCDH15:NM_001142773:exon20:c.G2720A:p.R907Q,PCDH15:NM_001142764:exon21:c.G2786A:p.R929Q,PCDH15:NM_001142766:exon21:c.G2786A:p.R929Q,PCDH15:NM_033056:exon21:c.G2786A:p.R929Q,PCDH15:NM_001142763:exon22:c.G2801A:p.R934Q 0.32 0.24 0.19 0.49 0.2 0.45 0.2562 0.2437 0.2015 0.4803 0.2417 0.2010 0.2737 0.4130 0.21 0.23 0.2 0.21 0.082 rs2135720 COSM3751862;COSM3751860;COSM3751863;COSM3751861 2(haematopoietic_and_lymphoid_tissue);4(large_intestine) Benign|Likely benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Retinitis_pigmentosa-deafness_syndrome RCV000039715.3|RCV000311639.1|RCV000350263.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239439|C0271097:500004:ORPHA886:57838006 . . . . . . 0.38 0.210 T 0.109 0.305 B 0.028 0.247 B . . . 0.999 0.433 P -0.57 0.023 N 2.1 0.605 T -0.21 0.134 N 0.052 0.080 -0.921 0.454 T 0.000 0.000 T . . . 1.471 0.239 13.16 0.823 0.137 0.094 0.150 N c -0.886 -0.748 0.000 0.012 0.487 0.133 0 2.97 0.333 0.850 0.272 0.068 0.175 0.082 0.222 0.985 0.512 7.682 0.275 Cadherin|Cadherin-like . . 0.2521 0.2464 0.2018 0.1805 0.4764 0.2397 0.1995 0.2192 0.4120 0.2363 0.2439 0.1914 0.1523 0.4796 0.2255 0.2121 0.2398 het 1446.89 102 10 55755491 . C T 1446.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.800;DP=102;Dels=0.00;FS=0.738;HRun=2;HaplotypeScore=0.0000;MQ=58.21;MQ0=0;MQRankSum=0.154;QD=14.19;ReadPosRankSum=-0.844;VQSLOD=5.1844;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,53:102:99:1477,0,1249 10 58118630 58118630 T C exonic ZWINT nonsynonymous SNV ZWINT:NM_007057:exon6:c.A559G:p.R187G,ZWINT:NM_032997:exon6:c.A559G:p.R187G 0.76 0.8 0.78 0.83 0.64 0.75 0.6805 0.7676 0.8062 0.8206 0.5758 0.6216 0.6715 0.7446 0.67 0.75 0.63 0.74 0.58 rs2241666 . . . . . . . . . . . . . 0.57 0.135 T 0.0 0.026 B 0.003 0.080 B 0.857 0.089 N 1 0.090 P 0.28 0.100 N 0.82 0.481 T -1.71 0.476 N 0.025 0.011 -0.980 0.349 T 0.000 0.000 T . . . -0.238 0.073 0.911 0.306 0.017 0.038 0.090 N c -1.342 -1.334 0.999 0.399 0.722 0.854 0 1.39 0.212 0.159 0.161 -0.944 0.024 0.000 0.063 0.002 0.062 7.059 0.241 . . . 0.6821 0.7666 0.7990 0.6685 0.8197 0.5754 0.6185 0.6924 0.7459 0.6624 0.7623 0.7614 0.6788 0.8240 0.5886 0.5995 0.6415 hom 5863.59 198 10 58118630 . T C 5863.59 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.714;DP=198;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.7083;MQ=59.38;MQ0=0;MQRankSum=1.697;QD=29.61;ReadPosRankSum=0.619;VQSLOD=7.4654;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,197:198:99:5862,478,0 10 60577393 60577393 T C exonic BICC1 synonymous SNV BICC1:NM_001080512:exon19:c.T2605C:p.L869L 0.74 0.77 0.78 0.76 0.7 0.69 0.7475 0.7598 0.8127 0.7668 0.7257 0.7369 0.7434 0.7362 0.74 0.76 0.72 0.74 0.63 rs4344442 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7475 0.7637 0.8110 0.6265 0.7617 0.7315 0.7428 0.7317 0.7325 0.7544 0.7626 0.7757 0.5867 0.7503 0.7391 0.7568 0.7403 hom 4663.51 135 10 60577393 . T C 4663.51 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=34.54;VQSLOD=10.0339;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4663,361,0 10 60588553 60588553 T C exonic BICC1 nonsynonymous SNV BICC1:NM_001080512:exon21:c.T2827C:p.S943P 0.61 0.38 0.73 0.73 0.69 0.62 0.7003 0.4301 0.7918 0.7456 0.7159 0.7249 0.7119 0.6770 0.62 0.44 0.71 0.54 0.62 rs4948550 COSM4144771 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.861 0.283 P -0.805 0.016 N 1.77 0.258 T -0.74 0.208 N 0.048 0.029 -1.023 0.228 T 0.000 0.000 T . . . 1.168 0.207 11.58 0.359 0.023 0.274 0.231 N c -0.462 -0.206 0.381 0.200 0.554 0.246 0 3.93 0.445 3.607 0.536 -0.067 0.120 1.000 0.715 0.936 0.409 9.783 0.396 . ENSG00000165443.7 Adrenal_Gland 0.7075 0.4247 0.7889 0.6227 0.7426 0.7214 0.7314 0.7028 0.6721 0.6501 0.4281 0.7530 0.5728 0.7289 0.7238 0.7457 0.7035 hom 2240.42 70 10 60588553 . T C 2240.42 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7989;MQ=59.47;MQ0=0;QD=32.01;VQSLOD=9.1046;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2273,178,0 10 61005244 61005244 G C exonic PHYHIPL nonsynonymous SNV PHYHIPL:NM_001143774:exon5:c.G946C:p.V316L,PHYHIPL:NM_032439:exon5:c.G1024C:p.V342L 0.74 0.48 0.87 0.88 0.87 0.72 0.8106 0.5305 0.8643 0.9085 0.8934 0.8470 0.8223 0.7173 0.74 0.54 0.84 0.73 0.93 rs2452505 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.358 N 1.000 0.090 P -1.59 0.004 N 1.32 0.352 T 0.63 0.024 N 0.005 0.000 -0.969 0.374 T 0.000 0.000 T . . . 0.919 0.182 10.19 0.826 0.138 0.488 0.280 N c -0.774 -0.447 0.957 0.282 0.554 0.283 0 5.56 0.836 1.582 0.359 0.067 0.174 0.997 0.399 0.998 0.697 10.076 0.413 . ENSG00000165443.7 Pancreas 0.8206 0.5222 0.8661 0.8258 0.9117 0.8952 0.8460 0.8348 0.7186 0.7685 0.5337 0.8687 0.7947 0.9167 0.8981 0.8480 0.8360 hom 2702.74 83 10 61005244 . G C 2702.74 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;QD=32.56;VQSLOD=8.2748;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2736,217,0 10 61414011 61414011 G T exonic SLC16A9 nonsynonymous SNV SLC16A9:NM_001323977:exon5:c.C512A:p.T171K,SLC16A9:NM_001323979:exon5:c.C512A:p.T171K,SLC16A9:NM_001323980:exon5:c.C512A:p.T171K,SLC16A9:NM_194298:exon5:c.C773A:p.T258K,SLC16A9:NM_001323978:exon6:c.C512A:p.T171K,SLC16A9:NM_001323981:exon6:c.C773A:p.T258K 0.34 0.07 0.38 0.58 0.27 0.53 0.3348 0.0997 0.4723 0.5690 0.4651 0.2721 0.3359 0.4654 0.21 0.11 0.26 0.32 0.23 rs2242206 COSM3751886 1(large_intestine) . . . . . . . . . . . 0.4 0.105 T 0.116 0.249 B 0.038 0.220 B 0.209 0.034 N 1 0.090 P 0 0.065 N 3.7 0.041 T -1.16 0.297 N 0.063 0.048 -0.971 0.370 T 0.000 0.000 T . . . -1.193 0.025 0.007 0.208 0.008 0.249 0.223 N c -1.041 -1.013 0.955 0.281 0.706 0.609 0 2.0 0.254 1.182 0.314 0.994 0.605 0.001 0.137 0.004 0.083 3.343 0.067 Major facilitator superfamily domain . . 0.3447 0.0971 0.4641 0.1586 0.5798 0.4660 0.2668 0.3206 0.4642 0.2819 0.1070 0.4222 0.1523 0.5938 0.4544 0.2991 0.3635 het 4000.17 249 10 61414011 . G T 4000.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.376;DP=249;DS;Dels=0.00;FS=3.689;HRun=1;HaplotypeScore=5.2385;MQ=59.58;MQ0=0;MQRankSum=0.143;QD=16.06;ReadPosRankSum=-0.232;VQSLOD=4.9297;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,122:249:99:3355,0,3620 10 61552692 61552692 G T exonic CCDC6 nonsynonymous SNV CCDC6:NM_005436:exon9:c.C1408A:p.P470T 0.44 0.2 0.6 0.61 0.45 0.44 0.5020 0.2547 0.6643 0.6035 0.4729 0.5014 0.5413 0.5025 0.42 0.26 0.5 0.41 0.46 rs1053266 COSM146940 1(stomach);1(haematopoietic_and_lymphoid_tissue);18(soft_tissue);4(prostate);1(thyroid) . . . . . . . . . . . 0.0 0.912 D 0.998 0.715 D 0.987 0.759 D 0.030 0.253 N 0.000 0.588 P 0.805 0.203 L 0.54 0.549 T -1.26 0.318 N 0.262 0.319 -0.870 0.506 T 0.000 0.000 T . . . 3.726 0.505 23.3 0.993 0.586 0.997 0.986 D c 0.799 0.820 1.000 0.747 0.707 0.730 0 5.6 0.849 8.949 0.929 1.048 0.713 1.000 0.715 1.000 0.888 19.985 0.973 . . . 0.5116 0.2544 0.6471 0.4553 0.6064 0.4797 0.5061 0.5067 0.4989 0.4412 0.2718 0.6340 0.4834 0.6278 0.4725 0.4981 0.4796 het 2273.92 192 10 61552692 . G T 2273.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.267;DP=192;DS;Dels=0.00;FS=1.250;HRun=0;HaplotypeScore=1.8455;MQ=58.85;MQ0=0;MQRankSum=-0.355;QD=11.84;ReadPosRankSum=0.929;VQSLOD=6.4345;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,92:192:99:2304,0,2754 10 61552774 61552774 C T exonic CCDC6 synonymous SNV CCDC6:NM_005436:exon9:c.G1326A:p.P442P 0.61 0.34 0.78 0.66 0.75 0.66 0.7276 0.4081 0.8093 0.6541 0.7432 0.7701 0.7748 0.7291 0.65 0.42 0.77 0.59 0.64 rs1053265 COSM1348403 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7381 0.4077 0.8091 0.7078 0.6535 0.7460 0.7772 0.7503 0.7329 0.6649 0.4247 0.8094 0.7318 0.6781 0.7385 0.7733 0.7163 hom 3613.73 117 10 61552774 . C T 3613.73 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0090;MQ=59.61;MQ0=0;QD=30.89;VQSLOD=6.0797;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,113:117:99:3586,295,0 10 61665886 61665886 C A exonic CCDC6 synonymous SNV CCDC6:NM_005436:exon1:c.G297T:p.V99V 0.38 0.039 0.47 0.63 0.45 0.42 0.4731 0.1023 0.5677 0.6493 0.5171 0.4819 0.5323 0.4870 0.35 0.11 0.47 0.36 0.41 rs1171830 COSM4144772 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4757 0.0934 0.5546 0.3935 0.6484 0.5256 0.4772 0.4907 0.4595 0.3838 0.1027 0.5144 0.3874 0.6547 0.5138 0.4744 0.4816 hom 1784.52 55 10 61665886 . C A 1784.52 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;QD=32.45;VQSLOD=9.8846;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1818,156,0 10 61831271 61831271 T C exonic ANK3 nonsynonymous SNV ANK3:NM_020987:exon37:c.A9368G:p.K3123R 0.13 0.02 0.21 0.035 0.27 0.15 0.2019 0.0459 0.1477 0.0362 0.25 0.2635 0.2093 0.1565 0.19 0.051 0.26 0.12 0.24 rs10821668 COSM4985665 4(soft_tissue) Likely benign not_specified RCV000116349.2 MedGen CN169374 . . . . . . 0.814 0.030 T 0.001 0.067 B 0.004 0.093 B 0.000 0.439 D 0.989 0.810 P -0.11 0.046 N -0.03 0.631 T 0.54 0.028 N 0.078 0.069 -1.059 0.119 T 0.000 0.000 T . . . 0.918 0.182 10.18 0.094 0.001 0.851 0.439 D c -0.488 -0.239 1.000 0.747 0.487 0.133 0 5.23 0.725 4.617 0.607 0.913 0.425 1.000 0.715 0.998 0.697 9.621 0.387 . . . 0.2045 0.0442 0.1607 0.2098 0.0356 0.2493 0.2692 0.2233 0.1547 0.1876 0.0486 0.1814 0.24 0.0333 0.2527 0.2660 0.2388 het 2633.24 249 10 61831271 . T C 2633.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.645;DP=249;DS;Dels=0.00;FS=1.579;HRun=1;HaplotypeScore=3.5468;MQ=59.51;MQ0=0;MQRankSum=-1.457;QD=10.58;ReadPosRankSum=1.892;VQSLOD=5.0300;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:145,104:249:99:2663,0,4051 10 61831744 61831744 A G exonic ANK3 synonymous SNV ANK3:NM_020987:exon37:c.T8895C:p.A2965A 0.13 0.02 0.21 0.035 0.27 0.15 0.2023 0.0462 0.1484 0.0362 0.2498 0.2637 0.2093 0.1575 0.19 0.051 0.26 0.12 0.24 rs10740006 . . Likely benign not_specified RCV000116344.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2045 0.0443 0.1611 0.2094 0.0356 0.2494 0.2691 0.2236 0.1556 0.1878 0.0487 0.1823 0.2384 0.0333 0.2531 0.2663 0.2403 het 1793.15 168 10 61831744 . A G 1793.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.510;DP=168;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9304;MQ=59.73;MQ0=0;MQRankSum=1.000;QD=10.67;ReadPosRankSum=-0.347;VQSLOD=6.2799;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,72:168:99:1823,0,2603 10 61868716 61868716 C A exonic ANK3 synonymous SNV ANK3:NM_001149:exon5:c.G447T:p.T149T,ANK3:NM_001320874:exon27:c.G3045T:p.T1015T,ANK3:NM_020987:exon27:c.G3045T:p.T1015T,ANK3:NM_001204403:exon28:c.G3027T:p.T1009T,ANK3:NM_001204404:exon28:c.G3048T:p.T1016T 0.18 0.027 0.23 0.07 0.32 0.32 0.2640 0.0595 0.1386 0.0608 0.3326 0.3225 0.3029 0.3213 0.24 0.07 0.33 0.098 0.25 rs3750800 . . Likely benign not_specified RCV000116332.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2643 0.0565 0.1461 0.2690 0.0598 0.3289 0.3289 0.2931 0.3230 0.2304 0.0615 0.1897 0.3389 0.0637 0.3413 0.3174 0.2873 hom 3282.39 105 10 61868716 . C A 3282.39 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=58.78;MQ0=0;QD=31.26;VQSLOD=8.8016;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3282,259,0 10 61965625 61965625 A G exonic ANK3 synonymous SNV ANK3:NM_001204404:exon11:c.T1167C:p.I389I,ANK3:NM_001320874:exon11:c.T1218C:p.I406I,ANK3:NM_020987:exon11:c.T1218C:p.I406I,ANK3:NM_001204403:exon12:c.T1200C:p.I400I 0.15 0.18 0.14 0.066 0.19 0.17 0.1596 0.1858 0.1247 0.0585 0.1418 0.1739 0.1504 0.1700 0.18 0.19 0.18 0.098 0.11 rs2297979 COSM5618919;COSM146942 1(breast);1(stomach) Likely benign not_specified RCV000116326.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1586 0.1844 0.1263 0.1798 0.0626 0.1487 0.1763 0.1592 0.1711 0.1649 0.1887 0.1492 0.1788 0.0686 0.1477 0.1667 0.1558 hom 2761.73 97 10 61965625 . A G 2761.73 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6917;MQ=59.55;MQ0=0;QD=28.47;VQSLOD=7.8136;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2795,223,0 10 62029934 62029934 G C exonic ANK3 synonymous SNV ANK3:NM_001204404:exon5:c.C417G:p.V139V,ANK3:NM_001320874:exon5:c.C468G:p.V156V,ANK3:NM_020987:exon5:c.C468G:p.V156V,ANK3:NM_001204403:exon6:c.C450G:p.V150V 0.069 0.013 0.082 0.003 0.16 0.11 0.1214 0.0285 0.0505 0.0022 0.1344 0.1582 0.1571 0.1362 0.11 0.032 0.15 0.054 0.066 rs71495633 . . Likely benign not_specified RCV000116336.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1182 0.0244 0.0531 0.1222 0.0013 0.1341 0.1588 0.1234 0.1373 0.1061 0.0267 0.0668 0.1457 0.0012 0.1340 0.1576 0.1212 het 1251.73 96 10 62029934 . G C 1251.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.279;DP=96;Dels=0.00;FS=0.783;HRun=0;HaplotypeScore=1.7329;MQ=59.55;MQ0=0;MQRankSum=-0.088;QD=13.04;ReadPosRankSum=-0.624;VQSLOD=6.4724;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,51:96:99:1282,0,1106 10 63520698 63520698 T C exonic C10orf107 synonymous SNV C10orf107:NM_173554:exon6:c.T489C:p.F163F 0.87 0.86 0.89 0.91 0.8 0.9 0.8352 0.8577 0.8998 0.9112 0.7820 0.8004 0.8370 0.8979 0.82 0.85 0.8 0.86 0.77 rs1992625 COSM1128027 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8363 0.8575 0.9001 0.7893 0.9137 0.7809 0.8014 0.8248 0.8964 0.8245 0.8620 0.8753 0.8079 0.9165 0.7826 0.8014 0.8061 hom 1968.09 64 10 63520698 . T C 1968.09 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.02;MQ0=0;QD=30.75;VQSLOD=8.6385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2001,153,0 10 63958112 63958112 T C exonic RTKN2 nonsynonymous SNV RTKN2:NM_145307:exon12:c.A1385G:p.H462R 0.59 0.31 0.7 0.9 0.64 0.51 0.6339 0.3742 0.7907 0.9200 0.6077 0.6371 0.6112 0.5366 0.55 0.38 0.64 0.51 0.63 rs3125734 . . . . . . . Rheumatoid arthritis 0.83 . 23028356 rs3125734 5E-9 0.233 0.181 T 0.001 0.067 B 0.001 0.040 B 0.057 0.225 N 0.995 0.233 P 1.95 0.526 M 1.02 0.407 T -0.08 0.098 N 0.03 0.011 -1.056 0.129 T 0.000 0.000 T . . . -0.156 0.080 1.352 0.703 0.090 0.916 0.536 D c -0.409 -0.279 0.987 0.310 0.563 0.310 0 2.33 0.279 1.652 0.367 -0.289 0.083 0.919 0.317 0.453 0.263 9.116 0.357 . . . 0.6454 0.3737 0.7852 0.5804 0.9184 0.5992 0.6441 0.6321 0.5364 0.5688 0.3774 0.7285 0.56 0.9194 0.5915 0.6275 0.5797 hom 3917.26 132 10 63958112 . T C 3917.26 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=58.73;MQ0=0;QD=29.68;VQSLOD=8.8216;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:3916,334,0 10 63964653 63964653 C T exonic RTKN2 synonymous SNV RTKN2:NM_145307:exon10:c.G1149A:p.K383K 0.14 0.29 0.11 0.005 0.16 0.076 0.1463 0.2733 0.0768 0.0042 0.1788 0.1664 0.1389 0.0952 0.19 0.27 0.16 0.17 0.12 rs41274060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1412 0.2715 0.0818 0.1789 0.0040 0.1736 0.1610 0.1521 0.0927 0.1986 0.2651 0.1074 0.1656 0.0043 0.1792 0.1917 0.1922 het 561.34 47 10 63964653 . C T 561.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.621;DP=47;Dels=0.00;FS=4.265;HRun=2;HaplotypeScore=0.9665;MQ=59.07;MQ0=0;MQRankSum=0.203;QD=11.94;ReadPosRankSum=-1.637;VQSLOD=5.1112;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,21:47:99:591,0,686 10 63976913 63976918 AGCTTC - exonic RTKN2 nonframeshift deletion RTKN2:NM_145307:exon9:c.979_984del:p.E327_A328del 0.14 0.29 0.11 0.005 0.16 0.076 0.1446 0.2690 0.0764 0.0042 0.1764 0.1646 0.1369 0.0947 0.19 0.26 0.15 . . rs59044276 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1310 0.2590 0.0705 0.1674 0.0036 0.1644 0.1531 0.1369 0.0824 0.1958 0.2630 0.1074 0.1633 0.0037 0.1744 0.1887 0.1856 het 601.95 88 10 63976912 . TAGCTTC T 601.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.245;DP=88;FS=3.930;HRun=0;HaplotypeScore=486.8066;MQ=49.64;MQ0=0;MQRankSum=-3.166;QD=6.76;ReadPosRankSum=-2.206;set=variant2 GT:AD:DP:GQ:PL 0/1:71,18:88:99:641,0,6171 10 63995983 63995983 C T exonic RTKN2 synonymous SNV RTKN2:NM_145307:exon6:c.G528A:p.V176V 0.91 0.93 0.9 0.99 0.86 0.84 0.8879 0.9238 0.9266 0.9896 0.9157 0.8692 0.8728 0.8502 0.89 0.92 0.87 0.92 0.82 rs3852448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8897 0.9248 0.9282 0.8554 0.9902 0.9133 0.8680 0.8790 0.8484 0.9014 0.9258 0.9212 0.8245 0.9895 0.9147 0.8758 0.8891 hom 1261.75 47 10 63995983 . C T 1261.75 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=26.85;VQSLOD=7.9206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1295,102,0 10 64159333 64159333 G T exonic ZNF365 nonsynonymous SNV ZNF365:NM_014951:exon5:c.G1009T:p.A337S 0.44 0.064 0.56 0.69 0.6 0.46 0.5445 0.1440 0.5355 0.6967 0.5990 0.6077 0.5760 0.4444 0.46 0.17 0.61 0.34 0.7 rs3758490 COSM146943 1(stomach);5(prostate);1(thyroid) . . . . . . . . . . . 0.302 0.144 T 0.01 0.191 B 0.033 0.243 B . . . 0.999 0.588 P 0.55 0.145 N 0.9 0.453 T 0.48 0.030 N 0.034 0.014 -0.935 0.434 T 0.000 0.000 T . . . 1.288 0.219 12.21 0.861 0.158 0.400 0.261 N c -0.786 -0.671 0.422 0.203 0.638 0.428 0 -1.85 0.073 0.137 0.157 -0.150 0.108 0.962 0.335 0.800 0.336 7.413 0.260 . ENSG00000138311.11|ENSG00000182010.6|ENSG00000138311.11|ENSG00000138311.11 Artery_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.5530 0.1351 0.5394 0.5277 0.6949 0.6052 0.6128 0.5718 0.4464 0.4858 0.1467 0.5764 0.4735 0.6986 0.6118 0.6208 0.5634 hom 7098.59 241 10 64159333 . G T 7098.59 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9992;MQ=59.00;MQ0=0;QD=29.45;VQSLOD=8.7177;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,239:241:99:7097,572,0 10 64415184 64415184 A G exonic ZNF365 nonsynonymous SNV ZNF365:NM_199452:exon4:c.A184G:p.T62A 0.87 0.98 0.83 0.9 0.73 0.87 0.7939 0.9544 0.8844 0.9113 0.7501 0.7241 0.7808 0.8681 0.81 0.95 0.73 0.87 0.76 rs7076156 . . other Uric_acid_nephrolithiasis\x2c_susceptibility_to RCV000002951.2 MedGen:OMIM C2700426:605990 Crohn's disease 1.19 . 22412388 rs7076156 7E-9 0.847 0.028 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0 0.065 N 0.71 0.512 T 0.83 0.018 N 0.028 0.069 -0.989 0.329 T 0.000 0.000 T . . . -0.231 0.074 0.945 0.482 0.039 0.002 0.013 N c -1.925 -2.010 1.000 0.747 0.487 0.133 0 -6.85 0.015 -2.248 0.013 -0.806 0.032 0.000 0.063 0.003 0.074 10.440 0.435 . . . 0.7956 0.9552 0.8715 0.7205 0.9086 0.7518 0.7304 0.7712 0.8668 0.8059 0.9523 0.8568 0.7119 0.9155 0.7466 0.7247 0.7567 het 876.01 99 10 64415184 . A G 876.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.844;DP=99;Dels=0.00;FS=5.506;HRun=0;HaplotypeScore=2.6163;MQ=59.18;MQ0=0;MQRankSum=0.255;QD=8.85;ReadPosRankSum=-1.763;VQSLOD=4.7156;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,38:99:99:906,0,1604 10 64573771 64573771 C T exonic EGR2 synonymous SNV EGR2:NM_000399:exon2:c.G627A:p.P209P,EGR2:NM_001136177:exon3:c.G627A:p.P209P,EGR2:NM_001136179:exon3:c.G477A:p.P159P,EGR2:NM_001321037:exon3:c.G477A:p.P159P,EGR2:NM_001136178:exon4:c.G627A:p.P209P 0.99 0.95 1. 1. 1. 1. 0.9953 0.9493 0.9971 1 1 0.9999 0.9978 0.9997 0.98 0.95 1. 0.96 1. rs224083 . . Likely benign\x2cBenign Charcot-Marie-Tooth_disease\x2c_type_I\x2cnot_specified RCV000470185.1\x2cRCV000383101.1 MedGen:SNOMED_CT\x2cMedGen C0751036:398040009\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9962 0.9464 0.9976 1 1 1 1.0000 0.9978 0.9997 0.9847 0.9457 0.9988 1 1 1 0.9999 1 hom 4003.65 131 10 64573771 . C T 4003.65 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0506;MQ=58.72;MQ0=0;QD=30.56;VQSLOD=6.5318;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,130:131:99:4003,325,0 10 64927823 64927823 C G exonic JMJD1C nonsynonymous SNV JMJD1C:NM_001322254:exon24:c.G6948C:p.E2316D,JMJD1C:NM_001282948:exon25:c.G7059C:p.E2353D,JMJD1C:NM_001318153:exon25:c.G6741C:p.E2247D,JMJD1C:NM_001322252:exon25:c.G7491C:p.E2497D,JMJD1C:NM_001322258:exon25:c.G6948C:p.E2316D,JMJD1C:NM_001318154:exon26:c.G7059C:p.E2353D,JMJD1C:NM_032776:exon26:c.G7605C:p.E2535D 0.39 0.29 0.31 0.36 0.49 0.53 0.4457 0.3327 0.2350 0.3422 0.4664 0.4897 0.4744 0.5264 0.43 0.34 0.48 0.4 0.56 rs1935 COSM1128024;COSM1128022 1(breast);4(prostate);1(large_intestine) . . . . . . . . . . . 0.166 0.232 T 0.355 0.319 B 0.057 0.248 B 0.000 0.559 D 0.150 0.588 P 1.1 0.281 L 0.83 0.478 T -0.38 0.134 N 0.13 0.185 -0.910 0.469 T 0.000 0.000 T . . . 2.068 0.309 16.64 0.998 0.887 0.736 0.357 D c -0.252 -0.146 0.984 0.306 0.732 0.924 0 3.57 0.399 0.005 0.129 0.036 0.152 0.841 0.301 0.996 0.625 5.196 0.145 JmjC domain ENSG00000232075.1|ENSG00000232075.1|ENSG00000148572.10|ENSG00000148572.10|ENSG00000148572.10|ENSG00000232075.1|ENSG00000148572.10|ENSG00000148572.10|ENSG00000232075.1|ENSG00000232075.1|ENSG00000148572.10|ENSG00000148572.10|ENSG00000148572.10|ENSG00000148572.10 Adipose_Visceral_Omentum|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Whole_Blood 0.4389 0.3266 0.2468 0.5682 0.3373 0.4685 0.4837 0.4624 0.5326 0.4359 0.3267 0.2679 0.5728 0.3124 0.4885 0.5046 0.4765 het 1084.33 123 10 64927823 . C G 1084.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.882;DP=123;Dels=0.00;FS=0.690;HRun=0;HaplotypeScore=0.0000;MQ=58.40;MQ0=0;MQRankSum=0.285;QD=8.82;ReadPosRankSum=-1.070;VQSLOD=5.0800;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,51:123:99:1114,0,1853 10 64945364 64945364 G A exonic JMJD1C synonymous SNV JMJD1C:NM_001322254:exon18:c.C6132T:p.D2044D,JMJD1C:NM_001282948:exon19:c.C6243T:p.D2081D,JMJD1C:NM_001318153:exon19:c.C5925T:p.D1975D,JMJD1C:NM_001322252:exon19:c.C6675T:p.D2225D,JMJD1C:NM_001322258:exon19:c.C6132T:p.D2044D,JMJD1C:NM_001318154:exon20:c.C6243T:p.D2081D,JMJD1C:NM_032776:exon20:c.C6789T:p.D2263D 0.58 0.31 0.54 0.64 0.8 0.69 0.7198 0.3941 0.5063 0.6201 0.8166 0.8036 0.7689 0.7343 0.68 0.42 0.8 0.54 0.81 rs3211105 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7203 0.3857 0.5183 0.8314 0.6209 0.8210 0.8052 0.7484 0.7401 0.6769 0.3951 0.5442 0.8113 0.6108 0.8309 0.8127 0.7373 hom 3731.45 127 10 64945364 . G A 3731.45 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.43;MQ0=0;QD=29.38;VQSLOD=8.7480;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3731,286,0 10 64967445 64967445 A T exonic JMJD1C synonymous SNV JMJD1C:NM_001322254:exon8:c.T3327A:p.R1109R,JMJD1C:NM_001282948:exon9:c.T3438A:p.R1146R,JMJD1C:NM_001318153:exon9:c.T3120A:p.R1040R,JMJD1C:NM_001322252:exon9:c.T3870A:p.R1290R,JMJD1C:NM_001322258:exon9:c.T3327A:p.R1109R,JMJD1C:NM_001318154:exon10:c.T3438A:p.R1146R,JMJD1C:NM_032776:exon10:c.T3984A:p.R1328R 0.99 0.95 1. 1. 1. 1. 0.9954 0.9468 0.9978 1 1 0.9999 0.9989 0.9997 0.98 0.95 1. 0.98 1. rs1904294 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9960 0.9435 0.9972 1 1 1 0.9999 0.9987 0.9998 0.9862 0.9515 1 1 1 1 0.9998 1 hom 4392.69 145 10 64967445 . A T 4392.69 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=5.8758;MQ=58.28;MQ0=0;QD=30.09;VQSLOD=6.5317;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4392,343,0 10 64974537 64974537 A T exonic JMJD1C nonsynonymous SNV JMJD1C:NM_001322254:exon6:c.T733A:p.S245T,JMJD1C:NM_001282948:exon7:c.T844A:p.S282T,JMJD1C:NM_001318153:exon7:c.T526A:p.S176T,JMJD1C:NM_001322252:exon7:c.T1276A:p.S426T,JMJD1C:NM_001322258:exon7:c.T733A:p.S245T,JMJD1C:NM_001318154:exon8:c.T844A:p.S282T,JMJD1C:NM_032776:exon8:c.T1390A:p.S464T 0.51 0.32 0.47 0.38 0.78 0.67 0.6728 0.3830 0.3941 0.3609 0.7883 0.7805 0.7322 0.7176 0.66 0.41 0.78 0.49 0.81 rs10761725 . . . . . . . . . . . . . 0.038 0.450 D 0.116 0.249 B 0.036 0.216 B 0.022 0.268 N 1 0.090 P 1.1 0.281 L 2.52 0.142 T -0.69 0.219 N 0.087 0.107 -1.088 0.059 T 0.000 0.000 T . . . -0.870 0.037 0.030 0.910 0.197 0.656 0.325 D c -0.400 -0.275 1.000 0.500 0.719 0.830 0 3.24 0.361 0.665 0.246 1.088 0.866 0.562 0.272 0.967 0.454 8.722 0.334 . ENSG00000232075.1|ENSG00000232075.1|ENSG00000232075.1|ENSG00000232075.1|ENSG00000171988.13|ENSG00000148572.10 Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.6672 0.3751 0.4027 0.8212 0.3537 0.7893 0.7804 0.7078 0.7236 0.6396 0.3808 0.4356 0.8113 0.3306 0.7959 0.7894 0.7128 hom 5594.99 187 10 64974537 . A T 5594.99 Mask AC=2;AF=1.00;AN=2;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=29.92;VQSLOD=8.9143;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,187:187:99:5594,448,0 10 68040325 68040325 C T exonic CTNNA3 nonsynonymous SNV CTNNA3:NM_001127384:exon13:c.G1787A:p.S596N,CTNNA3:NM_013266:exon13:c.G1787A:p.S596N 0.48 0.73 0.41 0.42 0.37 0.39 0.4120 0.6788 0.4061 0.4324 0.4362 0.3747 0.3896 0.3794 0.47 0.67 0.36 0.48 0.34 rs4548513 COSM5461506;COSM5461507 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.421 N 1.000 0.090 P -1.095 0.010 N 1.27 0.361 T 2.04 0.004 N 0.035 0.015 -0.935 0.434 T 0.000 0.000 T . . . 0.202 0.113 4.704 0.115 0.002 0.036 0.087 N c -1.126 -0.882 0.000 0.012 0.554 0.246 0 3.16 0.353 0.986 0.290 0.090 0.195 0.998 0.411 0.295 0.236 7.512 0.266 . . . 0.4038 0.6798 0.4078 0.3934 0.4315 0.4340 0.3655 0.3869 0.3717 0.4831 0.6821 0.4101 0.4139 0.4588 0.4406 0.3892 0.4191 het 1145.14 84 10 68040325 . C T 1145.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.520;DP=84;Dels=0.00;FS=0.861;HRun=4;HaplotypeScore=2.7855;MQ=56.90;MQ0=0;MQRankSum=0.577;QD=13.63;ReadPosRankSum=-0.488;VQSLOD=4.4224;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,42:84:99:1175,0,1145 10 69571336 69571336 G A exonic DNAJC12 synonymous SNV DNAJC12:NM_021800:exon3:c.C243T:p.S81S,DNAJC12:NM_201262:exon3:c.C243T:p.S81S 0.14 0.028 0.15 0.32 0.1 0.14 0.1258 0.0378 0.2083 0.3031 0.1781 0.0953 0.1443 0.1323 0.076 0.042 0.094 0.11 0.049 rs3740049 COSM3998055;COSM3998054 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1314 0.0355 0.1998 0.0501 0.2945 0.1809 0.0971 0.1231 0.1292 0.1062 0.0390 0.1706 0.0397 0.3086 0.1706 0.1046 0.1283 het 2640.84 200 10 69571336 . G A 2640.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.540;DP=200;Dels=0.00;FS=0.544;HRun=0;HaplotypeScore=0.7887;MQ=59.70;MQ0=0;MQRankSum=0.354;QD=13.20;ReadPosRankSum=-0.152;VQSLOD=6.7774;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,105:200:99:2671,0,2455 10 69666598 69666598 T C exonic SIRT1 synonymous SNV SIRT1:NM_001314049:exon3:c.T85C:p.L29L,SIRT1:NM_001142498:exon4:c.T109C:p.L37L,SIRT1:NM_012238:exon5:c.T994C:p.L332L 0.13 0.02 0.13 0.31 0.075 0.13 0.1047 0.0267 0.1944 0.3015 0.1435 0.0670 0.1289 0.1231 0.051 0.03 0.061 0.12 0.0082 rs2273773 COSM3998056 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1092 0.0247 0.1835 0.0461 0.2902 0.1464 0.0659 0.1032 0.1206 0.0801 0.0261 0.1527 0.0397 0.3025 0.1395 0.0693 0.0980 het 1087.89 89 10 69666598 . T C 1087.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.601;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6634;MQ=59.79;MQ0=0;MQRankSum=0.868;QD=12.22;ReadPosRankSum=0.202;VQSLOD=6.4683;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,41:89:99:1118,0,1331 10 69773841 69773841 G A exonic HERC4 synonymous SNV HERC4:NM_001278186:exon7:c.C246T:p.S82S,HERC4:NM_001278185:exon9:c.C1011T:p.S337S,HERC4:NM_015601:exon9:c.C1011T:p.S337S,HERC4:NM_022079:exon9:c.C1011T:p.S337S 0.52 0.4 0.47 0.84 0.33 0.57 0.4282 0.3958 0.5937 0.8490 0.4060 0.3220 0.4592 0.5481 0.35 0.38 0.33 0.49 0.27 rs866255 COSM5826746;COSM3751897 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4362 0.3976 0.5677 0.3095 0.8534 0.4100 0.3240 0.3968 0.5521 0.3863 0.3964 0.5179 0.3046 0.8523 0.3974 0.3223 0.3768 het 1170.10 83 10 69773841 . G A 1170.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.593;DP=83;Dels=0.00;FS=0.879;HRun=0;HaplotypeScore=1.6918;MQ=59.72;MQ0=0;MQRankSum=0.069;QD=14.10;ReadPosRankSum=0.696;VQSLOD=6.4020;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,48:83:99:1200,0,936 10 69926097 69926097 T C exonic MYPN synonymous SNV MYPN:NM_032578:exon10:c.T1647C:p.S549S,MYPN:NM_001256267:exon11:c.T1647C:p.S549S,MYPN:NM_001256268:exon14:c.T765C:p.S255S 0.48 0.28 0.68 0.31 0.69 0.58 0.6227 0.3416 0.6872 0.2886 0.7417 0.6868 0.6564 0.6200 0.58 0.35 0.7 0.48 0.69 rs2673794 . . not provided|Benign|Benign not_provided|not_specified|Cardiovascular_phenotype RCV000024488.3|RCV000180998.2|RCV000247309.1 MedGen|MedGen|MedGen CN221809|CN169374|CN230736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6326 0.3410 0.6827 0.6361 0.2873 0.7398 0.6904 0.6410 0.6264 0.5867 0.3464 0.6480 0.6733 0.2834 0.7457 0.7102 0.6878 het 2051.93 155 10 69926097 . T C 2051.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.616;DP=155;Dels=0.00;FS=2.032;HRun=1;HaplotypeScore=2.4328;MQ=58.84;MQ0=0;MQRankSum=-1.061;QD=13.24;ReadPosRankSum=-0.621;VQSLOD=5.9546;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,78:155:99:2082,0,1957 10 69926334 69926334 C G exonic MYPN nonsynonymous SNV MYPN:NM_032578:exon10:c.C1884G:p.F628L,MYPN:NM_001256267:exon11:c.C1884G:p.F628L,MYPN:NM_001256268:exon14:c.C1002G:p.F334L 0.32 0.11 0.4 0.22 0.51 0.44 0.4383 0.1622 0.4237 0.2010 0.5534 0.5038 0.4623 0.4339 0.4 0.17 0.51 0.27 0.53 rs10823148 COSM5002453;COSM5002455;COSM5002454 1(pancreas);1(skin) not provided|Benign|Benign not_provided|not_specified|Cardiovascular_phenotype RCV000024497.3|RCV000172766.2|RCV000252462.1 MedGen|MedGen|MedGen CN221809|CN169374|CN230736 . . . . . . 0.557 0.165 T 0.005 0.119 B 0.009 0.133 B 0.000 0.491 D 0.060 0.373 P 0.835 0.211 L 0.55 0.555 T -0.33 0.158 N 0.218 0.267 -0.929 0.444 T 0.000 0.000 T . . . 0.756 0.166 9.186 0.646 0.073 0.861 0.450 D c -0.280 -0.131 0.502 0.209 0.487 0.133 0 4.3 0.504 1.709 0.373 0.935 0.490 1.000 0.715 0.595 0.288 7.614 0.271 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000138347.11 Testis 0.4418 0.1565 0.4300 0.3260 0.1949 0.5430 0.5137 0.4498 0.4363 0.4048 0.1619 0.4199 0.3444 0.1897 0.5426 0.5306 0.5122 het 1856.10 128 10 69926334 . C G 1856.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.405;DP=128;Dels=0.00;FS=1.430;HRun=0;HaplotypeScore=0.9332;MQ=59.67;MQ0=0;MQRankSum=-1.788;QD=14.50;ReadPosRankSum=-1.467;VQSLOD=4.7528;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,70:128:99:1886,0,1564 10 69933921 69933921 G A exonic MYPN nonsynonymous SNV MYPN:NM_032578:exon11:c.G2072A:p.S691N,MYPN:NM_001256267:exon12:c.G2072A:p.S691N,MYPN:NM_001256268:exon15:c.G1190A:p.S397N 0.34 0.18 0.4 0.26 0.49 0.42 0.4308 0.2092 0.4167 0.2586 0.5402 0.4801 0.4559 0.4256 0.39 0.22 0.48 0.28 0.51 rs10997975 COSM4998277;COSM4998275;COSM4998276 1(pancreas) not provided|Benign|Benign\x2cnot provided not_provided|not_specified|Cardiovascular_phenotype\x2cnot_provided RCV000024490.3|RCV000172767.2|RCV000244773.1\x2cRCV000024523.1 MedGen|MedGen|MedGen\x2cMedGen CN221809|CN169374|CN230736\x2cCN221809 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.063 0.220 N 1 0.090 P -1.75 0.003 N 0.4 0.586 T 0.46 0.031 N 0.013 0.002 -0.916 0.462 T 0.000 0.000 T . . . 0.657 0.157 8.543 0.184 0.006 0.061 0.120 N c -0.980 -0.796 0.348 0.196 0.487 0.133 0 3.21 0.358 0.447 0.213 0.168 0.246 0.094 0.225 0.994 0.587 8.094 0.298 . ENSG00000138347.11 Testis 0.4329 0.2047 0.4185 0.3266 0.2489 0.5289 0.4878 0.4404 0.4292 0.4043 0.2092 0.4183 0.3444 0.2320 0.5284 0.5016 0.5021 het 2792.62 212 10 69933921 . G A 2792.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.178;DP=212;Dels=0.00;FS=3.154;HRun=1;HaplotypeScore=9.4392;MQ=58.95;MQ0=0;MQRankSum=-1.122;QD=13.17;ReadPosRankSum=0.423;VQSLOD=4.0121;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,114:212:99:2823,0,2594 10 69933969 69933969 G A exonic MYPN nonsynonymous SNV MYPN:NM_032578:exon11:c.G2120A:p.S707N,MYPN:NM_001256267:exon12:c.G2120A:p.S707N,MYPN:NM_001256268:exon15:c.G1238A:p.S413N 0.33 0.18 0.4 0.22 0.49 0.42 0.4258 0.2092 0.4141 0.2041 0.5380 0.4795 0.4515 0.4236 0.39 0.22 0.48 0.28 0.51 rs7916821 COSM4998290;COSM4998292;COSM4998291 1(pancreas) not provided|Benign|Benign not_provided|not_specified|Cardiovascular_phenotype RCV000024491.3|RCV000172768.2|RCV000247720.1 MedGen|MedGen|MedGen CN221809|CN169374|CN230736 . . . . . . 0.271 0.186 T 0.045 0.237 B 0.068 0.262 B 0.088 0.205 N 0.971 0.256 P 1.59 0.404 L 0.42 0.580 T -0.25 0.123 N 0.086 0.109 -0.933 0.437 T 0.000 0.000 T . . . 1.882 0.287 15.48 0.987 0.445 0.397 0.260 N c -0.199 -0.052 0.081 0.159 0.554 0.246 0 4.68 0.582 0.843 0.271 1.048 0.713 0.845 0.301 0.852 0.355 8.752 0.336 . ENSG00000138347.11 Testis 0.4283 0.2043 0.4160 0.3266 0.1982 0.5270 0.4873 0.4364 0.4273 0.4011 0.2082 0.4099 0.3444 0.1923 0.5266 0.5011 0.4969 het 2309.52 204 10 69933969 . G A 2309.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.493;DP=204;Dels=0.00;FS=0.517;HRun=1;HaplotypeScore=3.7102;MQ=58.99;MQ0=0;MQRankSum=0.046;QD=11.32;ReadPosRankSum=-0.490;VQSLOD=6.3186;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:112,92:204:99:2340,0,3114 10 69934258 69934258 C G exonic MYPN nonsynonymous SNV MYPN:NM_032578:exon11:c.C2409G:p.S803R,MYPN:NM_001256267:exon12:c.C2409G:p.S803R,MYPN:NM_001256268:exon15:c.C1527G:p.S509R 0.47 0.45 0.46 0.35 0.57 0.54 0.5205 0.4598 0.4522 0.3647 0.6409 0.5520 0.5363 0.5113 0.52 0.47 0.55 0.51 0.61 rs3814182 COSM4415817;COSM4415819;COSM4415818 1(haematopoietic_and_lymphoid_tissue) Likely benign\x2cnot provided|Benign|Benign Dilated_cardiomyopathy_1KK\x2cnot_provided|not_specified|Cardiovascular_phenotype RCV000463865.1\x2cRCV000024501.3|RCV000172769.2|RCV000244252.1 MedGen:OMIM\x2cMedGen|MedGen|MedGen CN169881:615248\x2cCN221809|CN169374|CN230736 . . . . . . 0.02 0.721 D 0.879 0.464 P 0.397 0.432 B 0.001 0.416 D 0.951 0.297 P 2.125 0.592 M 0.36 0.583 T -0.42 0.154 N 0.173 0.446 -1.073 0.088 T 0.000 0.000 T . . . 2.029 0.305 16.40 0.968 0.307 0.217 0.213 N c -1.027 -1.206 0.993 0.328 0.554 0.246 0 -9.63 0.005 -3.220 0.006 -0.330 0.074 0.000 0.063 0.913 0.390 19.595 0.955 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000179774.7 Colon_Transverse 0.5203 0.4602 0.4632 0.4294 0.3663 0.6304 0.5577 0.5190 0.5127 0.5276 0.4519 0.4483 0.4669 0.3781 0.6211 0.5682 0.5760 het 1074.91 93 10 69934258 . C G 1074.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.443;DP=93;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4404;MQ=59.35;MQ0=0;MQRankSum=0.550;QD=11.56;ReadPosRankSum=0.273;VQSLOD=6.0023;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,44:93:99:1105,0,1321 10 69948844 69948844 T C exonic MYPN synonymous SNV MYPN:NM_032578:exon13:c.T2886C:p.V962V,MYPN:NM_001256267:exon14:c.T2886C:p.V962V,MYPN:NM_001256268:exon17:c.T2004C:p.V668V 0.98 0.94 1. 1. 1. 1. 0.9956 0.9524 0.9983 1 1 0.9997 0.9978 1 0.99 0.96 1. 0.97 0.98 rs10733838 . . Benign|Benign\x2cnot provided|Benign not_specified|Dilated_cardiomyopathy_1KK\x2cnot_provided|not_specified RCV000127079.2|RCV000228230.2\x2cRCV000024492.1|RCV000216976.1 MedGen|MedGen:OMIM\x2cMedGen|MedGen CN169374|CN169881:615248\x2cCN221809|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9498 0.9982 0.9953 1 1 0.9999 0.9971 1 0.9854 0.9491 0.9964 1 1 1 0.9998 0.9969 hom 3340.47 107 10 69948844 . T C 3340.47 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9806;MQ=58.17;MQ0=0;QD=31.22;VQSLOD=8.3911;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3340,253,0 10 69959242 69959242 C A exonic MYPN nonsynonymous SNV MYPN:NM_032578:exon17:c.C3403A:p.P1135T,MYPN:NM_001256267:exon18:c.C3403A:p.P1135T,MYPN:NM_001256268:exon21:c.C2521A:p.P841T 0.34 0.22 0.4 0.24 0.48 0.42 0.4323 0.2533 0.4148 0.2251 0.5374 0.4806 0.4581 0.4268 0.41 0.26 0.48 0.34 0.55 rs7079481 . . not provided|Benign|Benign not_provided|not_specified|Cardiovascular_phenotype RCV000024493.3|RCV000172772.2|RCV000252665.1 MedGen|MedGen|MedGen CN221809|CN169374|CN230736 . . . . . . 0.009 0.574 D 1.0 0.899 D 0.998 0.971 D 0.000 0.843 D 0.000 0.588 P 0.975 0.246 L -0.65 0.722 T -4.63 0.809 D 0.494 0.594 -0.935 0.434 T 0.000 0.000 T . . . 6.536 0.900 31 0.998 0.894 0.988 0.864 D c 0.666 0.686 1.000 0.747 0.554 0.246 0 5.38 0.772 7.905 0.864 0.935 0.490 1.000 0.715 0.869 0.363 19.331 0.943 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000179774.7|ENSG00000138347.11 Colon_Transverse|Testis 0.4337 0.2546 0.4170 0.3310 0.2184 0.5262 0.4879 0.4327 0.4309 0.4160 0.2562 0.4165 0.3433 0.2112 0.5249 0.5020 0.4928 het 1045.86 128 10 69959242 . C A 1045.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.396;DP=128;Dels=0.00;FS=2.347;HRun=0;HaplotypeScore=4.7338;MQ=57.42;MQ0=0;MQRankSum=-1.214;QD=8.17;ReadPosRankSum=-0.067;VQSLOD=3.4237;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,46:128:99:1076,0,2313 10 70051928 70051928 A G exonic PBLD synonymous SNV PBLD:NM_001033083:exon5:c.T351C:p.D117D,PBLD:NM_022129:exon5:c.T351C:p.D117D 0.74 0.59 0.71 0.86 0.82 0.75 0.7714 0.6164 0.6765 0.8497 0.7498 0.8124 0.7726 0.7372 0.75 0.63 0.81 0.77 0.76 rs10823171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7670 0.6144 0.6861 0.7506 0.8438 0.7442 0.8143 0.7787 0.7359 0.7467 0.6194 0.7148 0.8146 0.8395 0.7529 0.8082 0.7678 hom 1534.55 55 10 70051928 . A G 1534.55 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9956;MQ=59.32;MQ0=0;QD=27.90;VQSLOD=7.6053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1568,126,0 10 70105560 70105560 G A exonic RUFY2 synonymous SNV RUFY2:NM_001330103:exon18:c.C1786T:p.L596L,RUFY2:NM_017987:exon18:c.C1891T:p.L631L 0.8 0.8 0.75 0.87 0.86 0.72 0.8158 0.8037 0.6966 0.8487 0.8125 0.8519 0.8278 0.7439 0.84 0.81 0.85 0.83 0.83 rs1162753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8099 0.8097 0.7134 0.7815 0.8495 0.8058 0.8540 0.8192 0.7438 0.8292 0.8112 0.7530 0.8167 0.8457 0.8045 0.8486 0.8218 hom 6439.53 203 10 70105560 . G A 6439.53 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.527;DP=203;Dels=0.00;FS=4.145;HRun=1;HaplotypeScore=8.4616;MQ=59.05;MQ0=0;MQRankSum=1.664;QD=31.72;ReadPosRankSum=1.664;VQSLOD=3.5933;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,202:203:99:6409,479,0 10 70405855 70405855 A G exonic TET1 nonsynonymous SNV TET1:NM_030625:exon4:c.A3369G:p.I1123M 0.69 0.45 0.78 0.85 0.81 0.68 0.7737 0.4910 0.7264 0.8382 0.8004 0.8235 0.8131 0.7365 0.72 0.5 0.83 0.7 0.75 rs3998860 COSM4144794 1(thyroid) . . . . . . . . . . . 0.157 0.240 T 0.07 0.224 B 0.01 0.139 B 0.253 0.037 N 1 0.090 P 0.69 0.170 N 3.12 0.081 T -0.15 0.093 N 0.03 0.011 -0.998 0.306 T 0.000 0.000 T . . . -1.096 0.028 0.010 0.878 0.170 0.081 0.139 N c -1.023 -1.071 0.058 0.151 0.672 0.522 0 -3.65 0.042 0.405 0.206 1.199 0.960 0.005 0.169 0.415 0.257 4.264 0.101 . ENSG00000165730.10|ENSG00000165730.10|ENSG00000165730.10|ENSG00000165730.10|ENSG00000165730.10|ENSG00000165730.10|ENSG00000165730.10|ENSG00000165730.10|ENSG00000165730.10|ENSG00000165730.10|ENSG00000165730.10|ENSG00000165730.10 Artery_Aorta|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Stomach|Thyroid|Whole_Blood 0.7774 0.4818 0.7235 0.8921 0.8396 0.8006 0.8201 0.8049 0.7351 0.7067 0.4861 0.7351 0.8874 0.8407 0.7855 0.7914 0.7862 hom 1411.65 42 10 70405855 . A G 1411.65 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.11;MQ0=0;QD=33.61;VQSLOD=9.9625;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1445,108,0 10 70502288 70502288 G A exonic CCAR1 synonymous SNV CCAR1:NM_001282959:exon5:c.G435A:p.T145T,CCAR1:NM_001282960:exon5:c.G435A:p.T145T,CCAR1:NM_018237:exon6:c.G480A:p.T160T 0.86 0.93 0.92 0.74 0.86 0.85 0.8660 0.9239 0.9360 0.7390 0.9249 0.8578 0.8855 0.8556 0.88 0.92 0.86 0.81 0.84 rs1300253 COSM4144795 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8694 0.9216 0.9293 0.8301 0.7421 0.9236 0.8602 0.8723 0.8553 0.8848 0.9191 0.9129 0.8444 0.7515 0.9213 0.8694 0.8941 hom 6932.70 224 10 70502288 . G A 6932.70 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8827;MQ=59.27;MQ0=0;MQRankSum=1.516;QD=30.95;ReadPosRankSum=0.526;VQSLOD=8.9788;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,223:224:99:6906,516,0 10 70641860 70641860 T C exonic STOX1 nonsynonymous SNV STOX1:NM_001130159:exon2:c.T457C:p.Y153H,STOX1:NM_001130160:exon2:c.T457C:p.Y153H,STOX1:NM_001130161:exon2:c.T457C:p.Y153H,STOX1:NM_152709:exon2:c.T457C:p.Y153H 0.61 0.38 0.61 0.9 0.64 0.6 0.6231 0.4036 0.5165 0.9041 0.6851 0.6365 0.64 0.6016 0.57 0.42 0.64 0.53 0.66 rs1341667 COSM3751904 1(thyroid);1(large_intestine) other Preeclampsia/eclampsia_4 RCV000001789.1 MedGen:OMIM C1836255:609404 . . . . . . 0.328 0.214 T 0.687 0.396 P 0.135 0.366 B 0.000 0.537 U 0.076 0.367 P 0.605 0.157 N -1.03 0.764 T -3.32 0.660 D 0.414 0.472 -0.992 0.320 T 0.000 0.000 T . . . 3.799 0.513 23.4 0.985 0.419 0.872 0.463 D c -0.043 0.083 0.001 0.077 0.615 0.372 0 4.44 0.530 2.988 0.488 1.011 0.635 0.997 0.399 0.999 0.750 11.605 0.501 Storkhead-box protein\x2c winged-helix domain ENSG00000165730.10|ENSG00000198954.4|ENSG00000165730.10 Adrenal_Gland|Muscle_Skeletal|Muscle_Skeletal 0.6238 0.3994 0.5238 0.5980 0.9074 0.6830 0.6380 0.6223 0.5998 0.5901 0.4034 0.5132 0.6159 0.9164 0.6830 0.6430 0.6288 het 1289.59 110 10 70641860 . T C 1289.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.483;DP=110;Dels=0.00;FS=1.733;HRun=0;HaplotypeScore=1.8519;MQ=59.26;MQ0=0;MQRankSum=1.397;QD=11.72;ReadPosRankSum=-1.151;VQSLOD=6.4573;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1320,0,1520 10 70645376 70645376 A C exonic STOX1 nonsynonymous SNV STOX1:NM_001130161:exon3:c.A1824C:p.E608D,STOX1:NM_152709:exon3:c.A1824C:p.E608D 0.14 0.032 0.22 0.08 0.22 0.23 0.2122 0.0618 0.3160 0.0859 0.2601 0.2220 0.2156 0.2358 0.17 0.058 0.21 0.11 0.19 rs10509305 COSM3998062 2(haematopoietic_and_lymphoid_tissue);7(soft_tissue) Pathogenic Preeclampsia/eclampsia_4 RCV000001790.2 MedGen:OMIM C1836255:609404 . . . . . . 0.983 0.020 T 0.0 0.026 B 0.0 0.013 B 0.862 0.071 N 1 0.090 P -1.63 0.004 N -0.81 0.740 T 0.96 0.015 N 0.03 0.011 -1.085 0.065 T 0.000 0.000 T . . . -3.111 0.001 0.001 0.090 0.001 0.051 0.108 N c -1.970 -1.809 0.000 0.012 0.615 0.372 0 1.14 0.197 -1.561 0.022 -1.391 0.012 0.000 0.063 0.000 0.016 0.041 0.000 . ENSG00000165730.10|ENSG00000165730.10|ENSG00000198954.4|ENSG00000165730.10|ENSG00000165730.10 Adrenal_Gland|Lung|Muscle_Skeletal|Muscle_Skeletal|Whole_Blood 0.2190 0.0582 0.3083 0.2417 0.0826 0.2613 0.2201 0.2141 0.2368 0.1774 0.0587 0.2787 0.2483 0.0765 0.2573 0.2276 0.2393 het 2068.19 191 10 70645376 . A C 2068.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.990;DP=191;Dels=0.00;FS=1.800;HRun=0;HaplotypeScore=5.6471;MQ=59.27;MQ0=0;MQRankSum=-1.425;QD=10.83;ReadPosRankSum=0.550;VQSLOD=4.4876;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,84:191:99:2098,0,2883 10 70645697 70645697 C T exonic STOX1 synonymous SNV STOX1:NM_001130161:exon3:c.C2145T:p.N715N,STOX1:NM_152709:exon3:c.C2145T:p.N715N 0.088 0.0098 0.15 0.056 0.15 0.12 0.1302 0.0257 0.2736 0.0775 0.1774 0.1241 0.1214 0.1253 0.09 0.024 0.12 0.076 0.12 rs10509306 COSM4418602 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1389 0.0244 0.2653 0.1038 0.0766 0.1792 0.1257 0.1288 0.1248 0.1123 0.0255 0.2291 0.0762 0.0727 0.1737 0.1439 0.1592 het 1488.87 133 10 70645697 . C T 1488.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.508;DP=133;Dels=0.00;FS=0.674;HRun=0;HaplotypeScore=1.7262;MQ=59.65;MQ0=0;MQRankSum=-0.069;QD=11.19;ReadPosRankSum=0.970;VQSLOD=6.6457;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,60:133:99:1519,0,1938 10 70696713 70696713 C T exonic DDX50 synonymous SNV DDX50:NM_024045:exon12:c.C1617T:p.Y539Y 0.95 0.98 0.96 0.99 0.91 0.93 0.9321 0.9753 0.9565 0.9928 0.9604 0.9103 0.9372 0.9325 0.93 0.97 0.91 0.95 0.88 rs5030895 COSM4144798 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9336 0.9761 0.9523 0.8987 0.9922 0.9631 0.9111 0.9237 0.9329 0.9442 0.9725 0.9356 0.8940 0.9920 0.9602 0.9200 0.9480 hom 4060.75 132 10 70696713 . C T 4060.75 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.83;MQ0=0;QD=30.76;VQSLOD=9.1888;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4060,316,0 10 70748784 70748784 G A exonic KIF1BP nonsynonymous SNV KIF1BP:NM_015634:exon1:c.G196A:p.G66S 0.35 0.33 0.32 0.36 0.48 0.28 0.4137 0.3574 0.2777 0.3857 0.3942 0.4783 0.3798 0.3100 0.44 0.34 0.48 0.4 0.25 rs2255607 COSM3751905 2(pancreas);1(thyroid);2(large_intestine) Benign not_specified RCV000146132.3 MedGen CN169374 . . . . . . 0.55 0.066 T 0.0 0.026 B 0.001 0.040 B 0.059 0.224 N 1 0.090 P 1.52 0.385 L 1.0 0.414 T -0.03 0.075 N 0.026 0.008 -0.927 0.446 T 0.000 0.000 T . . . -0.474 0.057 0.255 0.842 0.147 0.083 0.140 N c -1.311 -1.289 1.000 0.747 0.442 0.072 0 -0.111 0.129 0.335 0.194 -0.428 0.059 0.004 0.165 0.008 0.104 3.844 0.084 . ENSG00000165730.10|ENSG00000198954.4|ENSG00000198954.4|ENSG00000198954.4 Adrenal_Gland|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal 0.4041 0.3501 0.2922 0.3494 0.3729 0.3948 0.4832 0.4043 0.3120 0.4155 0.3351 0.3210 0.3874 0.3843 0.4155 0.4709 0.4265 het 590.44 76 10 70748784 . G A 590.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.545;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4688;MQ=59.70;MQ0=0;MQRankSum=2.763;QD=7.77;ReadPosRankSum=-0.052;VQSLOD=3.3228;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,23:76:99:620,0,1458 10 70856852 70856852 G A exonic SRGN nonsynonymous SNV SRGN:NM_002727:exon2:c.G92A:p.R31Q,SRGN:NM_001321053:exon3:c.G92A:p.R31Q 0.59 0.35 0.61 0.5 0.85 0.73 0.7510 0.4022 0.6081 0.5481 0.8648 0.8429 0.7896 0.7582 0.7 0.42 0.84 0.59 0.8 rs2229498 . . . . . . . . . . . . . 0.661 0.047 T 0.12 0.251 B 0.035 0.214 B 0.873 0.088 N 1 0.090 P 0.505 0.135 N 0.79 0.491 T -0.94 0.251 N 0.074 0.064 -0.976 0.358 T 0.000 0.000 T . . . 0.964 0.186 10.45 0.795 0.123 0.112 0.163 N c -1.476 -1.387 1.000 0.747 0.646 0.442 0 -0.986 0.097 -0.169 0.098 -0.988 0.022 0.494 0.267 0.030 0.147 10.334 0.428 . ENSG00000122958.10 Artery_Tibial 0.7564 0.3983 0.6194 0.8992 0.5471 0.8731 0.8395 0.8010 0.7616 0.7062 0.4144 0.6627 0.8742 0.5557 0.8614 0.8474 0.8143 hom 1722.55 56 10 70856852 . G A 1722.55 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.33;MQ0=0;QD=30.76;VQSLOD=9.4303;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1756,135,0 10 70892791 70892791 C T exonic VPS26A nonsynonymous SNV VPS26A:NM_001318944:exon2:c.C14T:p.P5L,VPS26A:NM_001318945:exon2:c.C14T:p.P5L 0.17 0.27 0.13 0.037 0.25 0.098 0.1921 0.2582 0.1487 0.0345 0.3285 0.2141 0.1689 0.1215 0.23 0.25 0.21 0.21 0.27 rs5030932 COSM1241893;COSM5426209 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1926 0.2548 0.1409 0.1411 0.0341 0.3284 0.2171 0.1820 0.1206 0.2393 0.2555 0.1432 0.1192 0.0389 0.3185 0.2395 0.2602 het 739.51 71 10 70892791 . C T 739.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.414;DP=71;Dels=0.00;FS=0.948;HRun=0;HaplotypeScore=4.7504;MQ=58.85;MQ0=0;MQRankSum=-1.072;QD=10.42;ReadPosRankSum=-0.191;VQSLOD=5.2223;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,31:71:99:770,0,979 10 70992664 70992664 C T exonic HKDC1 nonsynonymous SNV HKDC1:NM_025130:exon3:c.C371T:p.T124I 0.53 0.55 0.45 0.74 0.41 0.48 0.4645 0.5384 0.4742 0.7715 0.4610 0.4140 0.4812 0.4550 0.45 0.53 0.41 0.51 0.38 rs874556 . . . . . . . . . . . . . 0.103 0.301 T 0.0 0.026 B 0.001 0.040 B 0.602 0.109 N 1 0.090 P 1.33 0.334 L -5.36 0.990 D -2.36 0.521 N 0.069 0.056 -0.934 0.435 T 0.000 0.000 T . . . 0.821 0.172 9.591 0.971 0.320 0.192 0.204 N c -0.774 -0.827 1.000 0.747 0.428 0.059 0 1.69 0.232 1.994 0.401 0.935 0.490 0.003 0.159 0.225 0.223 5.673 0.169 Hexokinase\x2c N-terminal ENSG00000060339.9 Artery_Aorta 0.4639 0.5416 0.4670 0.4944 0.7699 0.4595 0.4081 0.4349 0.4514 0.4745 0.5470 0.4378 0.5464 0.7612 0.4510 0.4097 0.4397 het 2695.27 238 10 70992664 . C T 2695.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.060;DP=238;DS;Dels=0.00;FS=2.941;HRun=0;HaplotypeScore=8.2612;MQ=59.72;MQ0=0;MQRankSum=0.360;QD=11.32;ReadPosRankSum=0.111;VQSLOD=4.5652;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,108:238:99:2725,0,3521 10 71010375 71010375 C T exonic HKDC1 synonymous SNV HKDC1:NM_025130:exon12:c.C1803T:p.F601F 0.14 0.014 0.19 0.079 0.27 0.19 0.2097 0.0484 0.1732 0.0880 0.3358 0.2414 0.2423 0.2196 0.18 0.051 0.24 0.13 0.32 rs5030948 COSM3751907;COSM5826749 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2136 0.0442 0.1772 0.1670 0.0799 0.3382 0.2465 0.2065 0.2195 0.1927 0.0462 0.1643 0.1457 0.0698 0.3385 0.2545 0.2755 het 3946.29 249 10 71010375 . C T 3946.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.852;DP=249;DS;Dels=0.00;FS=1.572;HRun=2;HaplotypeScore=3.3934;MQ=59.20;MQ0=0;MQRankSum=-0.223;QD=15.79;ReadPosRankSum=-0.747;VQSLOD=6.1047;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:126,123:249:99:3317,0,3525 10 71018660 71018660 T C exonic HKDC1 nonsynonymous SNV HKDC1:NM_025130:exon15:c.T2161C:p.W721R 0.99 0.97 1. 0.99 1. 0.99 0.9966 0.9759 0.9982 0.9966 1 0.9998 0.9967 0.9938 0.99 0.98 1. 0.99 0.97 rs1111335 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.020 0.271 N 1.000 0.090 P -2.765 0.000 N -3.65 0.952 D 1.71 0.006 N 0.198 0.243 -0.920 0.456 T 0.000 0.000 T . . . 0.374 0.130 6.384 0.688 0.085 0.070 0.129 N c -1.375 -1.101 0.001 0.075 0.516 0.203 0 2.0 0.254 -0.363 0.076 0.069 0.176 0.078 0.221 0.599 0.288 10.370 0.430 Hexokinase\x2c C-terminal . . 0.9972 0.9763 0.9981 0.9999 0.9971 1 0.9998 0.9972 0.9944 0.9933 0.9774 0.9940 1 0.9975 1 0.9999 0.9990 hom 2203.24 77 10 71018660 . T C 2203.24 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.282;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5810;MQ=59.70;MQ0=0;MQRankSum=-0.742;QD=28.61;ReadPosRankSum=-0.877;VQSLOD=8.0873;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,76:77:99:2236,184,0 10 71142420 71142420 G A exonic HK1 synonymous SNV HK1:NM_001322367:exon9:c.G1347A:p.K449K,HK1:NM_000188:exon10:c.G1443A:p.K481K,HK1:NM_001322366:exon10:c.G1359A:p.K453K,HK1:NM_033496:exon10:c.G1440A:p.K480K,HK1:NM_001322364:exon12:c.G1455A:p.K485K,HK1:NM_033497:exon13:c.G1455A:p.K485K,HK1:NM_033498:exon13:c.G1455A:p.K485K,HK1:NM_033500:exon14:c.G1407A:p.K469K,HK1:NM_001322365:exon15:c.G1548A:p.K516K 0.78 0.89 0.63 0.64 0.78 0.88 0.7832 0.8834 0.5608 0.6682 0.8055 0.7917 0.7962 0.8897 0.82 0.88 0.79 0.81 0.69 rs748235 COSM4144803;COSM4144805;COSM4144804;COSM4144806 1(thyroid) Benign not_specified RCV000246647.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7726 0.8839 0.5707 0.8327 0.6790 0.7998 0.7896 0.7679 0.8899 0.8002 0.8793 0.6184 0.8576 0.6935 0.7936 0.7758 0.8037 hom 1162.63 37 10 71142420 . G A 1162.63 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9159;MQ=58.87;MQ0=0;QD=31.42;VQSLOD=9.2956;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:93.28:1196,93,0 10 71168685 71168685 A T exonic TACR2 nonsynonymous SNV TACR2:NM_001057:exon3:c.T734A:p.M245K 1. 1. 1. 1. 1. 1. 0.9999 0.9997 0.9999 1 0.9997 0.9999 1 0.9998 . . . 0.32 0.69 rs55953810 COSM3751912 23(upper_aerodigestive_tract);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.998 0.228 P -3.36 0.000 N -0.4 0.693 T 5.62 0.000 N 0.187 0.253 -0.945 0.418 T 0.000 0.000 T . . . 1.348 0.226 12.52 0.954 0.263 0.001 0.006 N c -1.033 -0.682 1.0 0.983 0.520 0.210 0 4.88 0.630 4.098 0.572 0.102 0.200 1.000 0.715 0.958 0.437 10.061 0.413 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9999 0.9999 0.9999 1 0.9999 1 0.9999 1 1.0000 0.9999 1 1 1 0.9993 1 0.9999 1 hom 479.80 14 10 71168685 . A T 479.80 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.27;VQSLOD=13.6803;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:513,39,0 10 71176012 71176012 A G exonic TACR2 nonsynonymous SNV TACR2:NM_001057:exon1:c.T68C:p.I23T 0.24 0.4 0.18 0.055 0.24 0.28 0.2223 0.3734 0.1372 0.0371 0.1850 0.2239 0.2160 0.2944 0.28 0.37 0.22 0.26 0.18 rs5030920 COSM1348802 7(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.641 0.050 T 0.0 0.026 B 0.0 0.013 B 0.291 0.148 N 1 0.090 P 1.59 0.404 L 1.23 0.369 T 0.95 0.015 N 0.05 0.031 -0.914 0.464 T 0.000 0.000 T . . . -0.785 0.041 0.046 0.328 0.019 0.017 0.054 N c -1.185 -1.124 0.500 0.209 0.497 0.185 0 2.83 0.320 -0.015 0.125 -0.753 0.034 0.000 0.063 0.088 0.184 7.330 0.256 . ENSG00000075073.10 Nerve_Tibial 0.2133 0.3782 0.1415 0.2187 0.0379 0.1901 0.2235 0.2128 0.2862 0.2546 0.3704 0.1623 0.2318 0.0451 0.1981 0.2299 0.2351 het 1529.99 125 10 71176012 . A G 1529.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.714;DP=125;Dels=0.00;FS=8.330;HRun=1;HaplotypeScore=0.7340;MQ=59.22;MQ0=0;MQRankSum=0.835;QD=12.24;ReadPosRankSum=-1.433;VQSLOD=4.7104;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,54:125:99:1560,0,1915 10 71391538 71391538 T C exonic C10orf35 synonymous SNV C10orf35:NM_145306:exon3:c.T39C:p.D13D 0.19 0.28 0.15 0.041 0.21 0.25 0.2283 0.3084 0.1557 0.0389 0.2415 0.2399 0.2189 0.2750 0.25 0.29 0.22 0.13 0.2 rs1381932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2088 0.2915 0.1447 0.1633 0.0345 0.2244 0.2332 0.1982 0.2540 0.2332 0.2941 0.1587 0.1821 0.0370 0.2318 0.2251 0.2245 het 247.69 33 10 71391538 . T C 247.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.724;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.42;MQ0=0;MQRankSum=0.000;QD=7.51;ReadPosRankSum=-0.269;VQSLOD=5.5455;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,14:33:99:278,0,477 10 71392557 71392557 C T exonic C10orf35 synonymous SNV C10orf35:NM_145306:exon4:c.C108T:p.N36N 0.71 0.6 0.74 0.89 0.67 0.69 0.6918 0.6248 0.8409 0.8933 0.6148 0.6619 0.6395 0.6743 0.65 0.62 0.67 0.61 0.57 rs12020 COSM3751915;COSM3751914 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6976 0.6187 0.8353 0.5797 0.8913 0.6214 0.6695 0.6697 0.6741 0.6582 0.6138 0.7990 0.59 0.9007 0.6336 0.6589 0.6293 hom 1155.43 36 10 71392557 . C T 1155.43 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.34;MQ0=0;QD=32.10;VQSLOD=8.5307;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1188,99,0 10 71392692 71392692 T C exonic C10orf35 synonymous SNV C10orf35:NM_145306:exon4:c.T243C:p.L81L 0.71 0.61 0.74 0.89 0.67 0.69 0.6918 0.6276 0.8415 0.8943 0.6177 0.6619 0.6388 0.6743 0.65 0.63 0.67 0.61 0.61 rs1052152 COSM3751916 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6982 0.6255 0.8355 0.5798 0.8917 0.6216 0.6708 0.6700 0.6743 0.6599 0.6201 0.8007 0.5927 0.9017 0.6333 0.6585 0.6299 hom 4564.71 133 10 71392692 . T C 4564.71 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2416;MQ=59.65;MQ0=0;QD=34.32;VQSLOD=9.4437;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:133:99:4564,370,0 10 71562437 71562437 G A exonic COL13A1 synonymous SNV COL13A1:NM_001130103:exon1:c.G258A:p.T86T,COL13A1:NM_001320951:exon1:c.G258A:p.T86T,COL13A1:NM_080798:exon1:c.G258A:p.T86T,COL13A1:NM_080800:exon1:c.G258A:p.T86T,COL13A1:NM_080801:exon1:c.G258A:p.T86T,COL13A1:NM_080802:exon1:c.G258A:p.T86T,COL13A1:NM_080805:exon1:c.G258A:p.T86T 0.53 0.31 0.66 0.71 0.57 0.49 0.5526 0.3209 0.6883 0.7189 0.5172 0.5507 0.5512 0.5302 0.46 0.3 0.54 0.28 . rs10998973 COSM5826752;COSM427823;COSM3751917;COSM427824 1(kidney);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5631 0.3214 0.6838 0.5914 0.7228 0.5311 0.5482 0.5617 0.5290 0.4858 0.3395 0.6627 0.58 0.7410 0.5252 0.5189 0.5358 het 2500.30 202 10 71562437 . G A 2500.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.946;DP=202;Dels=0.00;FS=4.989;HRun=0;HaplotypeScore=4.0553;MQ=59.34;MQ0=0;MQRankSum=2.132;QD=12.38;ReadPosRankSum=0.420;VQSLOD=4.4959;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:106,95:202:99:2530,0,2482 10 71647223 71647223 A C exonic COL13A1 synonymous SNV COL13A1:NM_080798:exon4:c.A384C:p.G128G,COL13A1:NM_080805:exon5:c.A411C:p.G137G,COL13A1:NM_001130103:exon7:c.A498C:p.G166G,COL13A1:NM_080800:exon7:c.A498C:p.G166G,COL13A1:NM_080801:exon7:c.A498C:p.G166G,COL13A1:NM_080802:exon7:c.A498C:p.G166G,COL13A1:NM_001320951:exon8:c.A525C:p.G175G 0.088 0.095 0.069 0.078 0.12 0.07 0.1018 0.0986 0.0510 0.0890 0.1089 0.1180 0.1225 0.0768 0.11 0.096 0.11 0.087 . rs11816811 COSM4417144;COSM4417143;COSM4417141;COSM4417142 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1000 0.0944 0.0547 0.1963 0.0888 0.1067 0.1125 0.1145 0.0749 0.1080 0.0987 0.0757 0.2114 0.0850 0.0984 0.1188 0.0958 het 483.03 41 10 71647223 . A C 483.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.091;DP=41;Dels=0.00;FS=4.677;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.222;QD=11.78;ReadPosRankSum=-0.274;VQSLOD=5.8404;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:513,0,565 10 71657272 71657272 A G exonic COL13A1 synonymous SNV COL13A1:NM_080805:exon11:c.A612G:p.Q204Q,COL13A1:NM_001130103:exon13:c.A699G:p.Q233Q,COL13A1:NM_080801:exon13:c.A699G:p.Q233Q,COL13A1:NM_080802:exon13:c.A699G:p.Q233Q 1. 0.98 1. 1. 1. 1. 0.9987 0.9847 0.9990 1 1 1.0000 1 0.9999 1. 0.99 1. 0.98 . rs1227746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9848 0.9990 1 1 1 1.0000 0.9993 1.0000 0.9969 0.9889 1 1 1 1 1 1 hom 1890.63 65 10 71657272 . A G 1890.63 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.71;MQ0=0;QD=29.09;VQSLOD=8.5260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1924,144,0 10 71658512 71658512 G A exonic COL13A1 synonymous SNV COL13A1:NM_080798:exon10:c.G603A:p.T201T,COL13A1:NM_080800:exon13:c.G717A:p.T239T,COL13A1:NM_001130103:exon14:c.G774A:p.T258T,COL13A1:NM_001320951:exon14:c.G744A:p.T248T 1. 0.98 1. 1. 1. 1. 0.9987 0.9847 0.9990 1 1 1.0000 1 0.9999 1. 0.99 1. 0.98 . rs1227747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9848 0.9990 1 1 1 1.0000 0.9993 1.0000 0.9968 0.9888 1 1 1 1 1 1 hom 1589.09 54 10 71658512 . G A 1589.09 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3149;MQ=58.17;MQ0=0;QD=29.43;VQSLOD=6.5387;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1622,129,0 10 71876382 71876382 C T exonic AIFM2 synonymous SNV AIFM2:NM_001198696:exon7:c.G765A:p.A255A,AIFM2:NM_032797:exon7:c.G765A:p.A255A 0.6 0.37 0.66 0.64 0.77 0.65 0.7193 0.4332 0.7038 0.6366 0.7555 0.7900 0.7108 0.6541 0.68 0.45 0.79 0.58 0.56 rs2394656 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7234 0.4252 0.7092 0.7509 0.6370 0.7551 0.7922 0.7260 0.6540 0.6803 0.4346 0.7136 0.7285 0.6343 0.7639 0.8013 0.7459 hom 4546.05 137 10 71876382 . C T 4546.05 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4005;MQ=59.15;MQ0=0;QD=33.18;VQSLOD=8.2092;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4545,367,0 10 72195439 72195439 T C exonic NODAL nonsynonymous SNV NODAL:NM_001329906:exon2:c.A95G:p.H32R,NODAL:NM_018055:exon2:c.A494G:p.H165R 0.67 0.51 0.68 0.96 0.53 0.7 0.6171 0.5033 0.6935 0.9487 0.5950 0.5673 0.5804 0.6732 0.54 0.51 0.56 0.58 0.46 rs1904589 COSM3751930 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign|Benign not_specified|Holoprosencephaly|Heterotaxy_syndrome RCV000081930.5|RCV000348733.1|RCV000400701.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|HP:0001360:CN001246|C3178805 . . . . . . 0.569 0.062 T 0.0 0.026 B 0.0 0.013 B 0.728 0.099 N 1 0.090 P 2.075 0.572 M -0.07 0.638 T -0.39 0.136 N 0.007 0.003 -1.036 0.186 T 0.000 0.000 T . . . -1.471 0.018 0.003 0.344 0.021 0.047 0.102 N c -1.036 -1.116 1.000 0.448 0.615 0.372 0 -2.83 0.054 -0.013 0.125 -1.410 0.012 0.002 0.151 0.034 0.151 4.011 0.090 . ENSG00000156574.5|ENSG00000148730.6 Adipose_Subcutaneous|Muscle_Skeletal 0.6169 0.5009 0.6770 0.4605 0.9494 0.5885 0.5674 0.6019 0.6755 0.5655 0.5079 0.6778 0.4603 0.9474 0.6017 0.5432 0.5955 het 1081.87 82 10 72195439 . T C 1081.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.273;DP=82;Dels=0.00;FS=0.931;HRun=0;HaplotypeScore=3.7306;MQ=59.44;MQ0=0;MQRankSum=-0.345;QD=13.19;ReadPosRankSum=1.517;VQSLOD=5.9451;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,40:82:99:1112,0,1150 10 72289778 72289778 C T exonic PALD1 nonsynonymous SNV PALD1:NM_014431:exon4:c.C422T:p.S141L 0.13 0.011 0.18 0.22 0.21 0.067 0.1795 0.0368 0.1639 0.2342 0.3242 0.1975 0.2005 0.1012 0.15 0.043 0.2 0.13 0.19 rs2275060 COSM3998065 1(haematopoietic_and_lymphoid_tissue);6(soft_tissue) . . . . . . . . . . . 0.305 0.142 T 0.0 0.026 B 0.004 0.093 B 0.558 0.114 N 1 0.090 P -0.755 0.017 N 1.2 0.374 T -2.37 0.522 N 0.032 0.012 -0.981 0.347 T 0.000 0.000 T . . . 0.803 0.171 9.484 0.876 0.168 0.043 0.097 N c -1.259 -1.272 0.806 0.242 0.737 0.974 0 -4.24 0.035 -0.276 0.085 -0.808 0.031 0.000 0.063 0.272 0.232 2.882 0.053 Protein-tyrosine phosphatase-like . . 0.1836 0.0333 0.1739 0.1249 0.2343 0.3224 0.1995 0.1812 0.0909 0.1724 0.0392 0.1679 0.1060 0.2389 0.3272 0.2038 0.2423 het 1389.53 108 10 72289778 . C T 1389.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.078;DP=108;Dels=0.00;FS=2.506;HRun=1;HaplotypeScore=4.7861;MQ=59.05;MQ0=0;MQRankSum=1.284;QD=12.87;ReadPosRankSum=0.601;VQSLOD=5.5778;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,55:108:99:1420,0,1321 10 72324143 72324143 A G exonic PALD1 synonymous SNV PALD1:NM_014431:exon19:c.A2286G:p.Q762Q 0.96 0.84 0.99 1. 1. 1. 0.9877 0.8755 0.9901 1 1 0.9990 0.9879 0.9996 0.96 0.88 1. 0.97 0.97 rs7093516 COSM4144821 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9900 0.8720 0.9913 0.9928 1 1 0.9994 0.9907 0.9996 0.9653 0.8797 0.9881 0.9967 1 1 0.9997 0.9928 hom 5261.77 159 10 72324143 . A G 5261.77 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5220;MQ=59.46;MQ0=0;QD=33.09;VQSLOD=8.3980;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5261,403,0 10 72358577 72358577 G A exonic PRF1 synonymous SNV PRF1:NM_001083116:exon3:c.C900T:p.H300H,PRF1:NM_005041:exon3:c.C900T:p.H300H 0.7 0.84 0.64 0.73 0.59 0.61 0.6357 0.8031 0.6910 0.7648 0.6538 0.5861 0.6542 0.6157 0.66 0.8 0.59 0.64 0.57 rs885822 COSM3765513 1(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Benign not_specified|Familial_hemophagocytic_lymphohistiocytosis RCV000248849.1|RCV000306406.1 MedGen|MedGen:SNOMED_CT CN169374|C0272199:398250003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6362 0.8054 0.6826 0.5727 0.7634 0.6472 0.5881 0.6333 0.6175 0.6730 0.8060 0.6878 0.5705 0.7645 0.6571 0.5915 0.6619 het 1467.33 139 10 72358577 . G A 1467.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.670;DP=139;Dels=0.00;FS=17.162;HRun=1;HaplotypeScore=1.7853;MQ=59.51;MQ0=1;MQRankSum=0.948;QD=10.56;ReadPosRankSum=-1.383;VQSLOD=3.2729;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,56:139:99:1497,0,2268 10 72500763 72500763 T C exonic ADAMTS14 nonsynonymous SNV ADAMTS14:NM_080722:exon12:c.T1769C:p.L590P,ADAMTS14:NM_139155:exon12:c.T1778C:p.L593P 0.8 0.67 0.74 0.91 0.86 0.85 0.8399 0.7057 0.6927 0.9211 0.9323 0.8621 0.8775 0.8562 0.81 0.71 0.86 0.79 0.87 rs10823607 . . . . . . . Sleep duration . -0.19 23728906 rs10823607 5E-6 0.413 0.102 T 0.0 0.026 B 0.002 0.093 B 0.630 0.058 N 1 0.090 P -1.77 0.003 N 3.83 0.037 T 2.01 0.004 N 0.032 0.012 -1.036 0.187 T 0.000 0.000 T . . . 0.803 0.171 9.485 0.909 0.196 0.078 0.136 N c -1.215 -1.129 1.000 0.480 0.646 0.450 0 -2.48 0.060 0.911 0.280 -0.837 0.030 0.001 0.137 0.823 0.344 5.555 0.163 . . . 0.8388 0.7041 0.6952 0.8789 0.9189 0.9337 0.8608 0.8411 0.8562 0.8301 0.7047 0.7088 0.8940 0.9226 0.9301 0.8723 0.8717 hom 2967.59 98 10 72500763 . T C 2967.59 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9967;MQ=59.15;MQ0=0;QD=30.28;VQSLOD=9.3759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3001,235,0 10 72500863 72500863 C G exonic ADAMTS14 synonymous SNV ADAMTS14:NM_080722:exon12:c.C1869G:p.S623S,ADAMTS14:NM_139155:exon12:c.C1878G:p.S626S 0.67 0.65 0.57 0.86 0.61 0.62 0.6276 0.6566 0.5508 0.8659 0.6835 0.6014 0.6552 0.6201 0.62 0.65 0.6 0.64 0.6 rs10999500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6281 0.6592 0.5517 0.6756 0.8664 0.6847 0.5980 0.6214 0.6170 0.6434 0.6577 0.5597 0.6755 0.8700 0.6798 0.6066 0.6344 het 739.21 77 10 72500863 . C G 739.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.647;DP=77;Dels=0.00;FS=3.229;HRun=0;HaplotypeScore=4.0965;MQ=59.21;MQ0=0;MQRankSum=0.355;QD=9.60;ReadPosRankSum=-2.239;VQSLOD=4.7892;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,33:77:99:769,0,1266 10 72513682 72513682 C T exonic ADAMTS14 synonymous SNV ADAMTS14:NM_080722:exon19:c.C2856T:p.C952C,ADAMTS14:NM_139155:exon19:c.C2865T:p.C955C 0.53 0.52 0.66 0.44 0.54 0.51 0.6128 0.5651 0.7237 0.5236 0.6526 0.6347 0.6197 0.5343 0.55 0.51 0.57 0.53 0.35 rs2587475 COSM3751932;COSM5826766 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5633 0.5095 0.6582 0.5826 0.4494 0.5799 0.5686 0.5606 0.5079 0.5409 0.4954 0.6265 0.5927 0.4598 0.5679 0.5633 0.5520 het 100.27 15 10 72513682 . C T 100.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.184;DP=15;Dels=0.00;FS=2.216;HRun=0;HaplotypeScore=0.5784;MQ=57.47;MQ0=0;MQRankSum=0.919;QD=6.68;ReadPosRankSum=1.041;VQSLOD=3.6693;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:15:99:130,0,252 10 72517837 72517837 C T exonic ADAMTS14 synonymous SNV ADAMTS14:NM_080722:exon20:c.C3057T:p.P1019P,ADAMTS14:NM_139155:exon20:c.C3066T:p.P1022P 0.52 0.55 0.61 0.4 0.55 0.48 0.5608 0.5320 0.6622 0.3992 0.5056 0.5842 0.5612 0.5187 0.57 0.54 0.59 0.48 0.57 rs6480463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5629 0.5294 0.6588 0.6643 0.3957 0.4968 0.5821 0.5718 0.5129 0.5469 0.5290 0.6492 0.6490 0.4073 0.4977 0.5766 0.5388 hom 2063.19 58 10 72517837 . C T 2063.19 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=35.57;VQSLOD=9.9685;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:2096,169,0 10 72535007 72535007 C T exonic TBATA nonsynonymous SNV TBATA:NM_001318241:exon8:c.G713A:p.R238Q,TBATA:NM_001318242:exon8:c.G710A:p.R237Q,TBATA:NM_001318243:exon8:c.G707A:p.R236Q,TBATA:NM_152710:exon8:c.G710A:p.R237Q 0.77 0.79 0.69 0.63 0.88 0.85 0.8245 0.7894 0.6066 0.5807 0.8472 0.8943 0.8150 0.8356 0.86 0.8 0.9 0.79 0.89 rs2254174 COSM5438553 1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 1.000 0.588 P -1.87 0.003 N 2.59 0.133 T 2.73 0.002 N 0.279 0.338 -0.987 0.334 T 0.000 0.000 T . . . 2.314 0.339 18.26 0.720 0.095 0.044 0.098 N c -0.994 -0.678 1.000 0.747 0.500 0.196 0 5.33 0.756 2.430 0.442 0.154 0.240 1.000 0.715 0.992 0.562 8.355 0.313 . . . 0.8146 0.7834 0.6172 0.8680 0.5813 0.8439 0.8966 0.8282 0.8378 0.8360 0.7870 0.6711 0.8709 0.5841 0.8519 0.8954 0.8531 hom 2975.53 97 10 72535007 . C T 2975.53 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.00;MQ0=0;QD=30.68;VQSLOD=8.5673;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3009,229,0 10 72619205 72619205 C T exonic SGPL1 synonymous SNV SGPL1:NM_003901:exon7:c.C564T:p.I188I 0.98 0.94 1. 1. 1. 1. 0.9955 0.9515 0.9978 1 1 0.9999 0.9978 0.9998 0.98 0.95 1. 0.9 1. rs827255 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9482 0.9978 1 1 1 0.9999 0.9985 0.9999 0.9859 0.9506 1 1 1 1 0.9999 0.9969 hom 2935.92 101 10 72619205 . C T 2935.92 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=29.07;VQSLOD=8.4632;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:2969,226,0 10 73044580 73044580 G A exonic UNC5B synonymous SNV UNC5B:NM_001244889:exon3:c.G408A:p.A136A,UNC5B:NM_170744:exon3:c.G408A:p.A136A 0.5 0.43 0.46 0.39 0.69 0.53 0.6225 0.4656 0.4518 0.3799 0.7413 0.7000 0.6449 0.6058 0.62 0.47 0.69 0.52 0.61 rs12770025 COSM3751937 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6171 0.4604 0.4667 0.5951 0.3802 0.7365 0.7027 0.6391 0.6013 0.6183 0.4660 0.5012 0.65 0.3897 0.7364 0.7061 0.6765 hom 3599.43 118 10 73044580 . G A 3599.43 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3168;MQ=59.41;MQ0=0;QD=30.50;VQSLOD=9.3567;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3599,286,0 10 73082563 73082563 A G exonic SLC29A3 nonsynonymous SNV SLC29A3:NM_001174098:exon2:c.A52G:p.R18G,SLC29A3:NM_018344:exon2:c.A52G:p.R18G 0.47 0.7 0.34 0.36 0.4 0.43 0.4247 0.6464 0.2900 0.3408 0.4430 0.4145 0.4218 0.4568 0.49 0.64 0.41 0.52 0.48 rs2277257 . . Likely benign|Benign not_specified|Histiocytosis-lymphadenopathy_plus_syndrome RCV000118380.2|RCV000383586.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1864445:602782:ORPHA168569 . . . . . . 0.114 0.286 T 0.001 0.067 B 0.002 0.063 B 0.280 0.150 N 1.000 0.090 P 1.43 0.360 L -0.32 0.682 T -1.41 0.348 N 0.046 0.032 -0.950 0.410 T 0.000 0.000 T . . . 0.245 0.118 5.151 0.913 0.200 0.200 0.207 N c -0.833 -0.844 0.989 0.318 0.706 0.609 0 1.21 0.201 0.472 0.217 0.202 0.252 0.024 0.198 0.017 0.128 7.375 0.258 . ENSG00000198246.7|ENSG00000198246.7 Esophagus_Muscularis|Nerve_Tibial 0.4153 0.6496 0.3080 0.4314 0.3369 0.4415 0.4110 0.3980 0.4542 0.4753 0.6475 0.3513 0.4603 0.3461 0.4266 0.4106 0.4296 het 2754.69 221 10 73082563 . A G 2754.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.110;DP=221;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0335;MQ=58.87;MQ0=1;MQRankSum=-0.761;QD=12.46;ReadPosRankSum=-0.037;VQSLOD=5.4253;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,104:221:99:2785,0,3257 10 73115941 73115941 T C exonic SLC29A3 synonymous SNV SLC29A3:NM_001174098:exon5:c.T714C:p.T238T,SLC29A3:NM_018344:exon5:c.T714C:p.T238T 0.78 0.9 0.66 0.67 0.88 0.72 0.8294 0.8904 0.6237 0.6857 0.8607 0.8836 0.8521 0.7773 0.89 0.89 0.89 . 0.93 rs2252997 . . Likely benign|Benign not_specified|Histiocytosis-lymphadenopathy_plus_syndrome RCV000118381.2|RCV000341296.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1864445:602782:ORPHA168569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8248 0.8929 0.6456 0.9359 0.6859 0.8648 0.8850 0.8535 0.7761 0.8679 0.8897 0.6885 0.93 0.6926 0.8490 0.8879 0.8551 het 2107.26 160 10 73115941 . T C 2107.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.326;DP=160;Dels=0.00;FS=1.274;HRun=1;HaplotypeScore=0.5784;MQ=59.60;MQ0=0;MQRankSum=-0.101;QD=13.17;ReadPosRankSum=3.060;VQSLOD=4.5024;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,78:160:99:2137,0,2266 10 73115942 73115942 G A exonic SLC29A3 nonsynonymous SNV SLC29A3:NM_001174098:exon5:c.G715A:p.V239I,SLC29A3:NM_018344:exon5:c.G715A:p.V239I 0.76 0.83 0.65 0.67 0.88 0.72 0.8217 0.8105 0.6208 0.6838 0.8604 0.8832 0.8477 0.7764 0.86 0.81 0.89 . 0.93 rs2252996 . . Likely benign|Benign not_specified|Histiocytosis-lymphadenopathy_plus_syndrome RCV000118382.2|RCV000306476.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1864445:602782:ORPHA168569 Systemic lupus erythematosus . 1.22 23273568 rs2252996 3E-6 0.508 0.075 T 0.002 0.090 B 0.02 0.179 B 0.645 0.106 N 1 0.090 P 1.37 0.343 L -0.28 0.676 T -0.19 0.100 N 0.083 0.077 -0.980 0.350 T 0.000 0.000 T . . . -0.811 0.040 0.040 0.739 0.102 0.058 0.116 N c -1.649 -1.676 1.000 0.489 0.732 0.924 0 -2.2 0.066 0.160 0.162 -1.728 0.007 0.015 0.189 0.000 0.016 11.691 0.506 . . . 0.8186 0.8103 0.6414 0.9359 0.6847 0.8648 0.8846 0.8488 0.7750 0.8453 0.8111 0.6850 0.93 0.6926 0.8490 0.8875 0.8520 het 1928.89 152 10 73115942 . G A 1928.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.982;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.57;MQ0=0;MQRankSum=-0.628;QD=12.69;ReadPosRankSum=2.825;VQSLOD=5.5258;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,76:152:99:1959,0,2127 10 73121913 73121913 A G exonic SLC29A3 nonsynonymous SNV SLC29A3:NM_018344:exon6:c.A976G:p.I326V 0.79 0.94 0.64 0.7 0.86 0.73 0.8246 0.9241 0.6196 0.7087 0.8539 0.8677 0.8381 0.7797 0.89 0.92 0.88 0.84 0.9 rs2487068 . . Likely benign|Benign not_specified|Histiocytosis-lymphadenopathy_plus_syndrome RCV000118385.2|RCV000372971.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1864445:602782:ORPHA168569 . . . . . . 1.0 0.010 T 0.002 0.090 B 0.029 0.203 B 0.354 0.138 N 1.000 0.090 P -0.515 0.026 N 0.05 0.619 T -0.08 0.082 N 0.034 0.014 -0.954 0.404 T 0.000 0.000 T . . . -2.319 0.005 0.001 0.365 0.023 0.035 0.085 N c -1.766 -1.791 1.000 0.747 0.706 0.609 0 -9.0 0.006 -0.576 0.059 -2.574 0.002 0.000 0.063 0.003 0.074 5.708 0.171 . . . 0.8188 0.9273 0.6406 0.8890 0.7103 0.8561 0.8706 0.8364 0.7794 0.8745 0.9235 0.6771 0.8874 0.7228 0.8389 0.8824 0.8599 hom 7671.37 250 10 73121913 . A G 7671.37 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.106;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6291;MQ=59.10;MQ0=0;MQRankSum=0.466;QD=30.69;ReadPosRankSum=-1.690;VQSLOD=3.3206;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7632,630,0 10 73121945 73121945 T C exonic SLC29A3 synonymous SNV SLC29A3:NM_018344:exon6:c.T1008C:p.G336G 0.75 0.75 0.66 0.72 0.9 0.72 0.8302 0.7567 0.6011 0.7219 0.8364 0.9086 0.8447 0.7735 0.87 0.77 0.92 0.79 0.93 rs1084004 . . Likely benign|Benign not_specified|Histiocytosis-lymphadenopathy_plus_syndrome RCV000118375.2|RCV000318573.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1864445:602782:ORPHA168569 Obesity-related traits . .03 23251661 rs1084004 2E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8255 0.7528 0.6258 0.9444 0.7205 0.8374 0.9120 0.8513 0.7733 0.8444 0.7526 0.6758 0.9338 0.7271 0.8288 0.9204 0.8643 hom 8626.21 248 10 73121945 . T C 8626.21 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.564;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9731;MQ=58.90;MQ0=0;MQRankSum=-0.251;QD=34.78;ReadPosRankSum=0.712;VQSLOD=6.7185;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,247:248:99:8595,662,0 10 73406504 73406504 T C exonic CDH23 synonymous SNV CDH23:NM_052836:exon13:c.T1579C:p.L527L 0.12 0.1 0.11 0.052 0.18 0.17 0.1521 0.1244 0.0875 0.0808 0.1214 0.1704 0.1571 0.1896 0.15 0.11 0.17 0.21 . rs2305209 . . Benign not_specified RCV000039103.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1436 0.1190 0.0892 0.1877 0.0756 0.1194 0.1664 0.1507 0.1759 0.1324 0.1136 0.0981 0.1567 0.0743 0.1219 0.1530 0.1411 het 592.37 39 10 73406504 . T C 592.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.912;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;MQRankSum=-1.770;QD=15.19;ReadPosRankSum=0.411;VQSLOD=6.1121;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,22:39:99:622,0,492 10 73455201 73455201 T C exonic CDH23 synonymous SNV CDH23:NM_001171930:exon21:c.T2316C:p.N772N,CDH23:NM_001171931:exon21:c.T2316C:p.N772N,CDH23:NM_022124:exon21:c.T2316C:p.N772N 0.55 0.5 0.52 0.44 0.71 0.61 0.6362 0.5272 0.4468 0.5072 0.5599 0.7105 0.6281 0.6320 0.67 0.55 0.73 0.61 . rs3752752 . . Benign\x2cBenign|Likely benign|Likely benign not_specified\x2cnot_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Retinitis_pigmentosa-deafness_syndrome RCV000154334.1\x2cRCV000039126.3|RCV000349454.1|RCV000394281.1 MedGen\x2cMedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374\x2cCN169374|CN239439|C0271097:500004:ORPHA886:57838006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6283 0.5211 0.4656 0.7645 0.5046 0.5576 0.7119 0.6418 0.6307 0.6218 0.5237 0.5107 0.8311 0.4913 0.5734 0.7077 0.6025 hom 4804.57 163 10 73455201 . T C 4804.57 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1888;MQ=58.79;MQ0=0;QD=29.48;VQSLOD=8.7884;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:4803,394,0 10 73455273 73455273 T C exonic CDH23 synonymous SNV CDH23:NM_001171930:exon21:c.T2388C:p.D796D,CDH23:NM_001171931:exon21:c.T2388C:p.D796D,CDH23:NM_022124:exon21:c.T2388C:p.D796D 0.55 0.5 0.52 0.43 0.71 0.61 0.6363 0.5276 0.4471 0.5044 0.5603 0.7107 0.6281 0.6323 0.67 0.55 0.73 0.61 . rs3752751 COSM4144836;COSM4144835;COSM4144837 1(thyroid) Benign\x2cBenign|Likely benign|Likely benign not_specified\x2cnot_specified|Retinitis_pigmentosa-deafness_syndrome|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000154335.1\x2cRCV000039129.3|RCV000266647.1|RCV000322204.1 MedGen\x2cMedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374\x2cCN169374|C0271097:500004:ORPHA886:57838006|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6281 0.5211 0.4656 0.7643 0.5019 0.5575 0.7117 0.6412 0.6309 0.6214 0.5230 0.5107 0.8311 0.4901 0.5728 0.7075 0.6020 hom 2762.70 98 10 73455273 . T C 2762.70 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=28.19;VQSLOD=8.6029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:2796,238,0 10 73501556 73501556 G A exonic CDH23 nonsynonymous SNV CDH23:NM_022124:exon36:c.G4723A:p.A1575T 0.73 0.56 0.69 0.83 0.79 0.82 0.7752 0.6276 0.7827 0.8314 0.7481 0.7868 0.7744 0.7875 0.74 0.63 0.8 0.74 . rs1227051 COSM5618308;COSM5618307 1(breast) Benign\x2cBenign|Likely benign|Likely benign not_specified\x2cnot_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Retinitis_pigmentosa-deafness_syndrome RCV000154337.1\x2cRCV000039189.3|RCV000275255.1|RCV000328065.1 MedGen\x2cMedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374\x2cCN169374|CN239439|C0271097:500004:ORPHA886:57838006 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.998 0.236 P -0.225 0.039 N . . . . . . 0.061 0.092 -0.999 0.302 T 0.000 0.000 T . . . 0.869 0.177 9.882 0.747 0.105 0.203 0.208 N c -0.447 -0.313 1.000 0.747 0.497 0.185 0 5.09 0.685 6.189 0.718 0.244 0.267 1.000 0.715 0.994 0.587 10.883 0.460 Cadherin|Cadherin-like . . 0.7734 0.6037 0.7752 0.8492 0.8309 0.7461 0.7816 0.7791 0.7859 0.7337 0.6116 0.7864 0.8733 0.8375 0.7494 0.7829 0.7520 hom 726.62 25 10 73501556 . G A 726.62 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;QD=29.06;VQSLOD=7.8779;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:66.17:760,66,0 10 73520632 73520632 A C exonic VSIR nonsynonymous SNV VSIR:NM_022153:exon3:c.T561G:p.D187E 0.89 0.98 0.8 0.78 0.9 0.94 0.8865 0.9727 0.8107 0.8084 0.8083 0.8913 0.8965 0.9378 0.92 0.97 0.9 0.96 0.9 rs3747869 COSM3751944 1(large_intestine) . . . . . . . . . . . 0.685 0.044 T 0.0 0.026 B 0.001 0.040 B 0.155 0.178 N 0.000 0.588 P -1.055 0.011 N 1.03 0.405 T -0.23 0.107 N 0.029 0.010 -0.972 0.368 T 0.000 0.000 T . . . 1.039 0.194 10.88 0.857 0.155 0.092 0.148 N c -0.977 -0.778 1.000 0.458 0.706 0.609 0 1.04 0.191 -0.655 0.054 -0.399 0.062 0.557 0.272 0.702 0.310 2.576 0.045 . . . 0.8820 0.9724 0.8149 0.9576 0.8110 0.8030 0.8943 0.8914 0.9365 0.8972 0.9716 0.8270 0.9768 0.8166 0.8015 0.8898 0.8602 hom 4111.37 139 10 73520632 . A C 4111.37 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2311;MQ=58.96;MQ0=0;QD=29.58;VQSLOD=7.4817;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4111,313,0 10 73521371 73521371 C T exonic VSIR synonymous SNV VSIR:NM_022153:exon2:c.G495A:p.E165E 0.19 0.16 0.17 0.19 0.27 0.14 0.2573 0.2027 0.1701 0.2072 0.3390 0.2879 0.2771 0.2093 0.23 0.18 0.25 0.2 0.2 rs3747867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2185 0.1695 0.1518 0.2167 0.1842 0.2821 0.2601 0.2241 0.1449 0.2423 0.1862 0.1699 0.2583 0.1907 0.2835 0.2740 0.2520 het 350.39 29 10 73521371 . C T 350.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.179;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=0.943;QD=12.08;ReadPosRankSum=-0.548;VQSLOD=6.3961;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,16:29:99:380,0,383 10 73533177 73533177 A G exonic VSIR nonsynonymous SNV VSIR:NM_022153:exon1:c.T20C:p.L7P 0.33 0.26 0.3 0.19 0.43 0.5 0.4685 0.3452 0.3598 0.2685 0.4557 0.5052 0.4806 0.5322 0.37 0.27 0.43 0.17 0.29 rs3747862 COSM1745871 2(urinary_tract);2(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.550 0.114 N 1.000 0.090 P -0.55 0.024 N 0.87 0.464 T 2.3 0.003 N 0.063 0.048 -0.901 0.479 T 0.000 0.000 T . . . 1.037 0.193 10.87 0.736 0.101 0.000 0.003 N c -1.109 -1.067 1.000 0.747 0.652 0.477 0 2.04 0.257 1.612 0.363 -0.233 0.094 0.041 0.208 0.010 0.111 6.385 0.206 . . . 0.3883 0.2694 0.2746 0.4707 0.2011 0.3598 0.4360 0.3935 0.5002 0.3509 0.2658 0.2945 0.4470 0.2119 0.3655 0.4116 0.3755 het 57.22 15 10 73533177 . A G 57.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.849;DP=15;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.6551;MQ=58.75;MQ0=0;MQRankSum=-0.326;QD=3.81;ReadPosRankSum=0.065;VQSLOD=3.3628;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,4:15:87.21:87,0,275 10 73537614 73537614 G A exonic CDH23 nonsynonymous SNV CDH23:NM_022124:exon37:c.G5023A:p.V1675I 0.13 0.0083 0.12 0.15 0.22 0.2 0.1789 0.0328 0.1385 0.1604 0.2329 0.2000 0.1726 0.1974 0.14 0.039 0.19 0.15 . rs17712523 COSM146951 1(stomach);1(prostate) Benign|not provided|Likely benign|Likely benign not_specified|not_provided|Nonsyndromic_Hearing_Loss\x2c_Recessive|Retinitis_pigmentosa-deafness_syndrome RCV000039194.3|RCV000086975.1|RCV000310492.1|RCV000394559.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN221809|CN239439|C0271097:500004:ORPHA886:57838006 . . . . . . . . . 0.001 0.067 B 0.002 0.063 B 0.410 0.130 N 1 0.090 P 1.16 0.298 L . . . . . . 0.02 0.004 -1.010 0.271 T 0.000 0.000 T . . . 2.116 0.315 16.96 0.949 0.251 0.065 0.124 N c -1.064 -1.033 1.000 0.462 0.578 0.323 0 -1.2 0.090 0.115 0.153 -0.249 0.090 0.004 0.165 0.746 0.321 6.235 0.198 Cadherin|Cadherin-like . . 0.1800 0.0324 0.1446 0.1823 0.1608 0.2313 0.2000 0.1710 0.1938 0.1545 0.0362 0.1480 0.1490 0.1687 0.2379 0.2002 0.1965 het 1618.71 115 10 73537614 . G A 1618.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.391;DP=115;Dels=0.00;FS=3.399;HRun=0;HaplotypeScore=1.8660;MQ=59.80;MQ0=0;MQRankSum=0.703;QD=14.08;ReadPosRankSum=0.782;VQSLOD=6.4468;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,61:115:99:1649,0,1417 10 73550117 73550117 C G exonic CDH23 nonsynonymous SNV CDH23:NM_022124:exon44:c.C5996G:p.T1999S 0.35 0.26 0.32 0.16 0.5 0.51 0.4291 0.2895 0.2793 0.1640 0.4352 0.4856 0.4639 0.5217 0.41 0.27 0.49 0.32 . rs11592462 COSM3751946 2(breast);1(thyroid);1(large_intestine) Benign|Likely benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Retinitis_pigmentosa-deafness_syndrome RCV000039232.7|RCV000338564.1|RCV000405485.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239439|C0271097:500004:ORPHA886:57838006 . . . . . . . . . 0.0 0.026 B 0.002 0.063 B 0.002 0.387 N 0.933 0.270 P 0.385 0.122 N . . . . . . 0.017 0.019 -0.967 0.378 T 0.000 0.000 T . . . 1.628 0.257 14.01 0.974 0.330 0.898 0.502 D c -0.485 -0.262 1.000 0.500 0.497 0.185 0 4.14 0.477 1.704 0.372 0.850 0.350 1.000 0.715 0.970 0.461 15.619 0.764 Cadherin|Cadherin-like ENSG00000107738.15|ENSG00000107736.15 Artery_Tibial|Muscle_Skeletal 0.4238 0.2773 0.2959 0.5296 0.1652 0.4230 0.4869 0.4356 0.5186 0.4061 0.2885 0.3317 0.51 0.1807 0.4316 0.4922 0.4506 hom 1687.12 53 10 73550117 . C G 1687.12 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7480;MQ=58.77;MQ0=0;QD=31.83;VQSLOD=8.9889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:53:99:1720,132,0 10 75865065 75865065 G A exonic VCL synonymous SNV VCL:NM_003373:exon16:c.G2388A:p.P796P,VCL:NM_014000:exon16:c.G2388A:p.P796P 0.32 0.06 0.46 0.25 0.59 0.39 0.4761 0.1261 0.3736 0.2618 0.5442 0.5852 0.5310 0.4094 0.44 0.14 0.59 0.36 0.6 rs767809 COSM3751971 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign\x2cBenign|Benign|Likely benign not_specified\x2cnot_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant RCV000152649.1\x2cRCV000038812.4|RCV000251660.1|RCV000365455.1 MedGen\x2cMedGen|MedGen|MedGen CN169374\x2cCN169374|CN230736|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4821 0.1210 0.3950 0.6871 0.2550 0.5476 0.5798 0.5250 0.4094 0.4299 0.1369 0.4511 0.6967 0.2801 0.5312 0.5824 0.4878 hom 4651.45 156 10 75865065 . G A 4651.45 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.665;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.7271;MQ=59.41;MQ0=0;MQRankSum=0.600;QD=29.82;ReadPosRankSum=0.955;VQSLOD=6.8852;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,155:156:99:4651,358,0 10 75871735 75871735 C G exonic VCL synonymous SNV VCL:NM_014000:exon19:c.C2814G:p.G938G 0.62 0.78 0.67 0.38 0.75 0.5 0.6734 0.7837 0.5684 0.3769 0.6739 0.7428 0.7037 0.5490 0.76 0.78 0.75 0.76 0.81 rs2131956 COSM1349106 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) Benign\x2cBenign|Benign|Likely benign not_specified\x2cnot_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant RCV000152651.1\x2cRCV000038817.4|RCV000243471.1|RCV000340107.1 MedGen\x2cMedGen|MedGen|MedGen CN169374\x2cCN169374|CN230736|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6698 0.7803 0.5817 0.8593 0.3696 0.6733 0.7412 0.7083 0.5500 0.7277 0.7918 0.6447 0.8676 0.3861 0.6712 0.7447 0.6857 hom 4967.09 149 10 75871735 . C G 4967.09 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.4813;MQ=59.28;MQ0=0;QD=33.34;VQSLOD=8.8694;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4966,391,0 10 76854564 76854564 C T exonic DUSP13 nonsynonymous SNV DUSP13:NM_001007272:exon4:c.G617A:p.C206Y,DUSP13:NM_016364:exon4:c.G467A:p.C156Y,DUSP13:NM_001320843:exon5:c.G467A:p.C156Y,DUSP13:NM_001007273:exon6:c.G746A:p.C249Y,DUSP13:NM_001320842:exon7:c.G746A:p.C249Y 0.64 0.69 0.68 0.9 0.44 0.48 0.5191 0.6667 0.7657 0.9114 0.4790 0.4164 0.5345 0.4769 0.5 0.66 0.43 0.67 0.42 rs3088142 . . . . . . . . . . . . . 1.0 0.010 T 0.004 0.210 B 0.002 0.162 B 0.220 0.162 N 0.936 0.588 P -1.395 0.006 N -1.87 0.844 D 1.29 0.010 N 0.033 0.051 -0.984 0.340 T 0.000 0.000 T . . . 0.098 0.103 3.587 0.876 0.168 0.165 0.192 N c -1.487 -1.372 0.994 0.333 0.615 0.372 0 -2.21 0.065 -0.236 0.089 -1.582 0.009 0.004 0.165 0.966 0.452 7.288 0.254 Dual specificity phosphatase\x2c catalytic domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase-like|Tyrosine specific protein phosphatases domain ENSG00000165637.9|ENSG00000165637.9|ENSG00000226051.2|ENSG00000226051.2|ENSG00000233313.2|ENSG00000165637.9|ENSG00000165637.9|ENSG00000226051.2|ENSG00000226051.2|ENSG00000233313.2|ENSG00000079393.16|ENSG00000165637.9|ENSG00000226051.2|ENSG00000233313.2|ENSG00000165637.9 Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.5254 0.6661 0.7437 0.4473 0.9089 0.4660 0.4140 0.5172 0.4753 0.5304 0.6657 0.7022 0.4371 0.9080 0.4679 0.4199 0.4949 hom 1722.72 54 10 76854564 . C T 1722.72 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.65;MQ0=0;QD=31.90;VQSLOD=8.8652;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1756,147,0 10 76855412 76855412 G A exonic DUSP13 synonymous SNV DUSP13:NM_001007272:exon3:c.C465T:p.D155D,DUSP13:NM_016364:exon3:c.C315T:p.D105D,DUSP13:NM_001320843:exon4:c.C315T:p.D105D,DUSP13:NM_001007273:exon5:c.C594T:p.D198D,DUSP13:NM_001320842:exon6:c.C594T:p.D198D 0.42 0.43 0.44 0.64 0.28 0.32 0.3380 0.4266 0.4632 0.6715 0.3559 0.2631 0.3289 0.3161 0.32 0.42 0.27 0.41 0.26 rs3740317 COSM146972 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3448 0.4297 0.4548 0.2769 0.6771 0.3492 0.2620 0.3277 0.3185 0.3515 0.4166 0.3974 0.3046 0.7142 0.3491 0.2731 0.3554 het 3233.06 249 10 76855412 . G A 3233.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.846;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6124;MQ=59.22;MQ0=0;MQRankSum=0.850;QD=12.98;ReadPosRankSum=2.044;VQSLOD=5.9786;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:129,120:249:99:3265,0,3306 10 76855421 76855421 G A exonic DUSP13 synonymous SNV DUSP13:NM_001007272:exon3:c.C456T:p.I152I,DUSP13:NM_016364:exon3:c.C306T:p.I102I,DUSP13:NM_001320843:exon4:c.C306T:p.I102I,DUSP13:NM_001007273:exon5:c.C585T:p.I195I,DUSP13:NM_001320842:exon6:c.C585T:p.I195I 0.21 0.23 0.24 0.26 0.17 0.16 0.1775 0.2145 0.3001 0.2408 0.1190 0.1521 0.1971 0.1603 0.18 0.22 0.16 0.25 0.16 rs3740316 COSM5438361;COSM5438362;COSM5438360;COSM5438363 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1786 0.2131 0.2871 0.1704 0.2317 0.1166 0.1517 0.1875 0.1567 0.1716 0.2256 0.3055 0.1325 0.1943 0.1188 0.1456 0.1391 het 4201.37 250 10 76855421 . G A 4201.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.053;DP=250;DS;Dels=0.00;FS=1.042;HRun=1;HaplotypeScore=2.2829;MQ=59.24;MQ0=0;MQRankSum=-0.673;QD=16.81;ReadPosRankSum=-0.565;VQSLOD=6.1216;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3541,0,3135 10 76867899 76867899 T C exonic DUSP13 nonsynonymous SNV DUSP13:NM_001007271:exon2:c.A218G:p.K73R 0.45 0.53 0.45 0.64 0.28 0.33 0.3510 0.5255 0.4719 0.6721 0.3562 0.2686 0.3435 0.3249 0.34 0.49 0.27 0.43 . rs7912300 . . . . . . . . . . . . . 0.014 0.531 D 0.003 0.102 B 0.005 0.104 B . . . 1.000 0.810 P -0.43 0.028 N -2.01 0.855 D -0.26 0.112 N 0.065 0.056 -0.912 0.466 T 0.000 0.000 T . . . 3.471 0.475 23.0 0.998 0.852 0.124 0.171 N c -0.346 -0.121 1.000 0.747 0.487 0.133 0 4.93 0.643 3.122 0.499 0.069 0.176 0.064 0.217 0.959 0.439 12.549 0.554 Dual specificity phosphatase\x2c catalytic domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase-like ENSG00000165637.9|ENSG00000188716.5|ENSG00000165637.9|ENSG00000079393.16|ENSG00000226051.2 Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.3559 0.5286 0.4624 0.2865 0.6798 0.3498 0.2662 0.3363 0.3266 0.3809 0.5110 0.4057 0.3146 0.7138 0.3498 0.2775 0.3612 het 990.13 65 10 76867899 . T C 990.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.681;DP=65;Dels=0.00;FS=1.026;HRun=3;HaplotypeScore=1.9657;MQ=59.29;MQ0=0;MQRankSum=0.897;QD=15.23;ReadPosRankSum=-0.465;VQSLOD=6.6185;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,40:65:99:1020,0,688 10 78944590 78944590 G A exonic KCNMA1 synonymous SNV KCNMA1:NM_001271518:exon3:c.C525T:p.F175F,KCNMA1:NM_001014797:exon4:c.C687T:p.F229F,KCNMA1:NM_001161352:exon4:c.C687T:p.F229F,KCNMA1:NM_001161353:exon4:c.C687T:p.F229F,KCNMA1:NM_001271519:exon4:c.C687T:p.F229F,KCNMA1:NM_001322829:exon4:c.C687T:p.F229F,KCNMA1:NM_001322830:exon4:c.C687T:p.F229F,KCNMA1:NM_001322832:exon4:c.C687T:p.F229F,KCNMA1:NM_001322835:exon4:c.C687T:p.F229F,KCNMA1:NM_001322836:exon4:c.C687T:p.F229F,KCNMA1:NM_001322837:exon4:c.C687T:p.F229F,KCNMA1:NM_002247:exon4:c.C687T:p.F229F,KCNMA1:NM_001322838:exon5:c.C147T:p.F49F 0.41 0.7 0.27 0.25 0.34 0.33 0.3605 0.6391 0.1877 0.2697 0.3757 0.3666 0.3458 0.3228 0.45 0.62 0.36 0.47 0.33 rs1131824 COSM3751986;COSM3751991;COSM3751990;COSM3751988;COSM3751987;COSM3751989 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Likely benign not_specified|Generalized_epilepsy_and_paroxysmal_dyskinesia RCV000117331.6|RCV000398300.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1836173:609446:ORPHA79137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3473 0.6385 0.2054 0.4025 0.2661 0.3717 0.3596 0.3387 0.3244 0.4129 0.6340 0.2220 0.4007 0.2747 0.3732 0.3261 0.3122 het 2484.49 172 10 78944590 . G A 2484.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.340;DP=172;Dels=0.00;FS=1.258;HRun=2;HaplotypeScore=1.5678;MQ=59.04;MQ0=0;MQRankSum=0.734;QD=14.44;ReadPosRankSum=-0.292;VQSLOD=6.6889;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,93:172:99:2514,0,1862 10 79566632 79566632 G A exonic DLG5 synonymous SNV DLG5:NM_004747:exon26:c.C4851T:p.D1617D 0.26 0.25 0.24 0.17 0.34 0.31 0.3038 0.2659 0.2410 0.1881 0.2694 0.3452 0.2907 0.2795 0.32 0.27 0.35 0.33 0.32 rs1058198 COSM1745920 1(haematopoietic_and_lymphoid_tissue);2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3005 0.2620 0.2398 0.3611 0.1855 0.2728 0.3475 0.3087 0.2789 0.2987 0.2556 0.2338 0.3833 0.1920 0.2734 0.3442 0.2827 het 2813.73 224 10 79566632 . G A 2813.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.500;DP=224;Dels=0.00;FS=4.684;HRun=0;HaplotypeScore=4.6628;MQ=59.14;MQ0=0;MQRankSum=1.861;QD=12.56;ReadPosRankSum=1.432;VQSLOD=4.6627;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,109:224:99:2844,0,2758 10 79584178 79584178 G C exonic DLG5 synonymous SNV DLG5:NM_004747:exon14:c.C2346G:p.R782R 0.74 0.87 0.78 0.73 0.65 0.66 0.6812 0.8495 0.7768 0.7354 0.6025 0.6457 0.6272 0.6572 0.72 0.84 0.65 0.8 0.67 rs1248629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6803 0.8534 0.7678 0.6362 0.7345 0.5987 0.6489 0.6614 0.6583 0.7042 0.8493 0.7542 0.6457 0.7278 0.6059 0.6424 0.6442 het 1020.08 77 10 79584178 . G C 1020.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.350;DP=77;Dels=0.00;FS=6.102;HRun=1;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;MQRankSum=-0.168;QD=13.25;ReadPosRankSum=0.138;VQSLOD=4.7482;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,40:77:99:1050,0,1019 10 79616564 79616564 G A exonic DLG5 nonsynonymous SNV DLG5:NM_004747:exon3:c.C460T:p.R154W . . . . . . 6.634e-05 0 0 0 0 0.0001 0 6.097e-05 0.0001 . 0.0001 . . rs111767303 . . . . . . . . . . . . . 0.001 0.784 D 0.999 0.764 D 0.906 0.626 P 0.004 0.345 N 0.977 0.393 D 2.56 0.750 M 0.53 0.551 T -3.19 0.646 D 0.501 0.573 -0.486 0.692 T 0.294 0.666 T 0.033 0.550 D 5.793 0.792 27.1 0.999 0.968 0.890 0.490 D c 0.396 0.298 1.000 0.428 0.626 0.397 0 3.27 0.364 3.240 0.508 -0.358 0.068 1.000 0.715 0.896 0.378 15.916 0.792 Domain of unknown function DUF622 . . 4.883e-05 0 0 0 0 0 9.877e-05 0 3.252e-05 . . . . . . . . het 613.58 59 10 79616564 . G A 613.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.285;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3210;MQ=59.68;MQ0=0;MQRankSum=-0.583;QD=10.40;ReadPosRankSum=-2.722;VQSLOD=2.5413;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,28:59:99:644,0,765 10 79616605 79616605 T C exonic DLG5 nonsynonymous SNV DLG5:NM_004747:exon3:c.A419G:p.Q140R 0.97 0.99 0.95 1. 0.91 0.96 0.9311 0.9837 0.9649 0.9994 0.9211 0.9017 0.92 0.9619 0.93 0.98 0.9 0.99 0.92 rs1248696 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.240 0.157 N 1.000 0.211 P -0.41 0.029 N 0.82 0.481 T 0.76 0.020 N 0.018 0.010 -0.947 0.415 T 0.000 0.000 T . . . -1.688 0.013 0.002 0.118 0.002 0.267 0.229 N c -1.363 -1.221 0.995 0.338 0.626 0.397 0 1.51 0.220 1.066 0.300 -0.985 0.023 0.998 0.411 0.055 0.167 9.109 0.357 Domain of unknown function DUF622 . . 0.9300 0.9845 0.9595 0.8954 0.9997 0.9209 0.8985 0.9246 0.9642 0.9337 0.9798 0.9605 0.9238 0.9988 0.9226 0.9025 0.9133 hom 1186.75 42 10 79616605 . T C 1186.75 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.00;MQ0=0;QD=28.26;VQSLOD=7.9703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1220,105,0 10 81701722 81701722 T C exonic SFTPD nonsynonymous SNV SFTPD:NM_003019:exon5:c.A538G:p.T180A 0.77 0.98 0.62 0.79 0.61 0.73 0.6635 0.9340 0.6105 0.8042 0.6108 0.6021 0.6678 0.7254 0.72 0.92 0.61 0.75 0.73 rs2243639 COSM4144912 1(thyroid) Benign not_specified RCV000151861.2 MedGen CN169374 . . . . . . 1.0 0.030 T 0.0 0.026 B 0.001 0.040 B 0.880 0.072 N 1 0.090 P -0.4 0.030 N -1.72 0.933 D 0.63 0.050 N 0.267 0.324 -0.941 0.425 T 0.000 0.000 T . . . -1.400 0.019 0.003 0.521 0.046 0.004 0.019 N c -1.659 -1.664 0.040 0.144 0.554 0.283 0 -3.79 0.040 -2.001 0.015 -0.441 0.057 0.000 0.063 0.036 0.153 1.600 0.025 . ENSG00000133661.11|ENSG00000226381.3|ENSG00000242600.2|ENSG00000242600.2|ENSG00000133661.11|ENSG00000273372.1|ENSG00000133661.11|ENSG00000242600.2|ENSG00000133661.11|ENSG00000273372.1|ENSG00000133661.11|ENSG00000226381.3|ENSG00000242600.2|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000273372.1|ENSG00000242600.2|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000224886.2|ENSG00000226381.3|ENSG00000242600.2|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000226381.3|ENSG00000226381.3|ENSG00000133661.11|ENSG00000242600.2|ENSG00000242600.2|ENSG00000133661.11|ENSG00000133661.11|ENSG00000226381.3|ENSG00000242600.2|ENSG00000188199.6|ENSG00000214584.3|ENSG00000242600.2|ENSG00000228570.3|ENSG00000188199.6|ENSG00000226381.3|ENSG00000242600.2|ENSG00000188199.6|ENSG00000226381.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6555 0.9378 0.6091 0.6341 0.8086 0.6055 0.6000 0.6371 0.7260 0.7107 0.9282 0.6325 0.6467 0.8154 0.6015 0.6073 0.6564 het 1742.15 158 10 81701722 . T C 1742.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.084;DP=158;Dels=0.00;FS=2.880;HRun=0;HaplotypeScore=4.6133;MQ=59.76;MQ0=0;MQRankSum=1.363;QD=11.03;ReadPosRankSum=0.816;VQSLOD=5.1443;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,72:158:99:1772,0,2430 10 81706324 81706324 A G exonic SFTPD nonsynonymous SNV SFTPD:NM_003019:exon2:c.T92C:p.M31T 0.5 0.4 0.38 0.62 0.42 0.71 0.4700 0.4042 0.4553 0.6260 0.4085 0.4189 0.4613 0.6717 0.41 0.4 0.42 0.4 0.44 rs721917 COSM4144913 9(soft_tissue);1(thyroid) Benign not_specified RCV000151865.2 MedGen CN169374 . . . . . . 0.337 0.128 T 0.0 0.026 B 0.0 0.013 B 0.225 0.035 N 1 0.090 P 0.205 0.094 N -2.62 0.910 D -0.16 0.095 N 0.428 0.484 -1.012 0.262 T 0.000 0.000 T . . . -1.484 0.017 0.003 0.343 0.021 0.020 0.060 N c -1.569 -1.540 0.001 0.080 0.554 0.283 0 -1.35 0.086 -0.186 0.096 -1.324 0.013 0.000 0.063 0.000 0.016 6.106 0.192 . ENSG00000133661.11|ENSG00000242600.2|ENSG00000273372.1|ENSG00000133661.11|ENSG00000133661.11|ENSG00000273372.1|ENSG00000133661.11|ENSG00000242600.2|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11|ENSG00000133661.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Pituitary 0.4658 0.4093 0.4426 0.3992 0.6300 0.3901 0.4208 0.4323 0.6728 0.4285 0.3937 0.4593 0.4073 0.6332 0.3883 0.4336 0.4459 het 990.98 75 10 81706324 . A G 990.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.701;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=60.00;MQ0=0;MQRankSum=0.906;QD=13.21;ReadPosRankSum=-0.948;VQSLOD=6.3864;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,38:75:99:1021,0,953 10 81841692 81841692 G T exonic TMEM254 nonsynonymous SNV TMEM254:NM_001270371:exon3:c.G278T:p.C93F,TMEM254:NM_001270374:exon3:c.G203T:p.C68F 0.42 0.23 0.34 0.69 0.41 0.47 0.4152 0.2547 0.2685 0.6958 0.4162 0.4217 0.4381 0.4445 0.37 0.27 0.43 0.39 0.47 rs1932574 COSM5983375;COSM5983374 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.209 P . . . . . . . . . . . -0.959 0.394 T 0.000 0.000 T . . . 0.549 0.147 7.794 0.726 0.097 0.026 0.071 N c -0.420 -0.521 0.936 0.272 0.661 0.498 0 1.28 0.206 -0.258 0.087 0.152 0.238 0.000 0.063 0.315 0.240 8.531 0.323 . ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000189129.9|ENSG00000230091.2|ENSG00000133661.11|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2|ENSG00000230091.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid 0.4125 0.2547 0.2769 0.3981 0.7079 0.4073 0.4239 0.4013 0.4425 0.3853 0.2517 0.2924 0.3833 0.7020 0.4013 0.4303 0.3880 hom 4614.36 134 10 81841692 . G T 4614.36 Mask AC=2;AF=1.00;AN=2;DP=134;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7323;MQ=59.69;MQ0=0;QD=34.44;VQSLOD=9.0959;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4614,367,0 10 81926702 81926702 G A exonic ANXA11 nonsynonymous SNV ANXA11:NM_001157:exon6:c.C688T:p.R230C,ANXA11:NM_145868:exon7:c.C688T:p.R230C,ANXA11:NM_001278407:exon8:c.C688T:p.R230C,ANXA11:NM_001278408:exon8:c.C688T:p.R230C,ANXA11:NM_001278409:exon8:c.C589T:p.R197C,ANXA11:NM_145869:exon8:c.C688T:p.R230C 0.39 0.16 0.47 0.64 0.45 0.34 0.4470 0.2423 0.4984 0.6845 0.5213 0.4407 0.4852 0.3927 0.34 0.2 0.41 0.37 0.31 rs1049550 COSM3751997 1(large_intestine) . . . . . . . . . . . 0.017 0.512 D 1.0 0.899 D 0.998 0.875 D 0.000 0.843 D 0.000 0.588 P 3.735 0.950 H 2.64 0.128 T -6.54 0.918 D 0.335 0.616 -0.929 0.443 T 0.000 0.000 T . . . 7.418 0.951 34 0.999 0.994 0.991 0.910 D c 0.877 0.764 1.000 0.747 0.706 0.609 0 4.35 0.513 7.629 0.823 1.048 0.713 1.000 0.715 0.995 0.604 9.180 0.361 Annexin repeat\x2c conserved site . . 0.4189 0.1952 0.4491 0.3734 0.6681 0.4462 0.4161 0.4273 0.3596 0.3752 0.2080 0.4344 0.3477 0.6756 0.4486 0.4178 0.4131 het 440.09 29 10 81926702 . G A 440.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.442;DP=29;Dels=0.00;FS=1.527;HRun=1;HaplotypeScore=1.9623;MQ=55.86;MQ0=0;MQRankSum=0.285;QD=15.18;ReadPosRankSum=0.153;VQSLOD=3.1239;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,16:29:99:470,0,262 10 81928830 81928830 G A exonic ANXA11 synonymous SNV ANXA11:NM_001157:exon4:c.C456T:p.Y152Y,ANXA11:NM_145868:exon5:c.C456T:p.Y152Y,ANXA11:NM_001278407:exon6:c.C456T:p.Y152Y,ANXA11:NM_001278408:exon6:c.C456T:p.Y152Y,ANXA11:NM_001278409:exon6:c.C357T:p.Y119Y,ANXA11:NM_145869:exon6:c.C456T:p.Y152Y 0.0088 0.0015 0.0072 . 0.017 0.02 0.0159 0.0039 0.0066 0 0.0261 0.0201 0.0174 0.0204 0.013 0.003 0.019 . 0.0082 rs34003188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0130 0.0034 0.0067 0.0110 0 0.0164 0.0176 0.0165 0.0139 0.0130 0.0025 0.0048 0.0199 0 0.0189 0.0190 0.0184 het 51.95 10 10 81928830 . G A 51.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.386;DP=10;Dels=0.00;FS=3.233;HRun=0;HaplotypeScore=0.9159;MQ=57.66;MQ0=0;MQRankSum=0.546;QD=5.19;ReadPosRankSum=-0.731;VQSLOD=2.2023;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,3:10:81.94:82,0,208 10 82033594 82033594 G A exonic MAT1A synonymous SNV MAT1A:NM_000429:exon9:c.C1131T:p.Y377Y 0.59 0.79 0.52 0.49 0.42 0.64 0.5124 0.7470 0.5506 0.4586 0.4354 0.4560 0.4736 0.6267 0.54 0.72 0.44 0.6 0.46 rs2993763 COSM3751998 1(large_intestine) Benign|Benign not_specified|Hepatic_methionine_adenosyltransferase_deficiency RCV000247170.1|RCV000330172.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268621:250850:ORPHA168598:57835009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5055 0.7541 0.5439 0.4795 0.4529 0.4301 0.4525 0.4934 0.6241 0.5316 0.7427 0.5263 0.5 0.4608 0.4216 0.4445 0.5041 het 3895.78 226 10 82033594 . G A 3895.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.626;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6252;MQ=58.97;MQ0=0;MQRankSum=0.251;QD=17.24;ReadPosRankSum=1.339;VQSLOD=5.1239;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,117:226:99:3305,0,2802 10 82034842 82034842 A G exonic MAT1A synonymous SNV MAT1A:NM_000429:exon7:c.T882C:p.A294A 0.84 0.93 0.78 0.97 0.64 0.84 0.7441 0.8864 0.8182 0.9724 0.6984 0.6594 0.7509 0.8262 0.71 0.87 0.62 0.86 0.22 rs10887711 . . Benign|Benign not_specified|Hepatic_methionine_adenosyltransferase_deficiency RCV000247603.2|RCV000397356.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268621:250850:ORPHA168598:57835009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7188 0.8908 0.7944 0.6857 0.9734 0.6650 0.6189 0.6938 0.8181 0.7328 0.8890 0.7804 0.6887 0.9747 0.6700 0.6309 0.6898 het 116.26 18 10 82034842 . A G 116.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.639;DP=18;Dels=0.00;FS=2.060;HRun=1;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=1.733;QD=6.46;ReadPosRankSum=0.983;VQSLOD=4.9107;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:146,0,360 10 82034854 82034854 T C exonic MAT1A synonymous SNV MAT1A:NM_000429:exon7:c.A870G:p.V290V 0.84 0.93 0.78 0.97 0.64 0.84 0.7504 0.8923 0.8277 0.9759 0.7106 0.6638 0.7507 0.8313 0.71 0.87 0.63 0.86 0.31 rs10788546 . . Benign|Benign not_specified|Hepatic_methionine_adenosyltransferase_deficiency RCV000243664.2|RCV000289020.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268621:250850:ORPHA168598:57835009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7242 0.8940 0.7984 0.6874 0.9748 0.6695 0.6269 0.6971 0.8219 0.7329 0.8887 0.7804 0.6887 0.9753 0.6700 0.6313 0.6894 het 249.09 25 10 82034854 . T C 249.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.193;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5317;MQ=59.07;MQ0=0;MQRankSum=1.193;QD=9.96;ReadPosRankSum=0.194;VQSLOD=6.5516;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,10:25:99:279,0,441 10 82040052 82040052 A G exonic MAT1A synonymous SNV MAT1A:NM_000429:exon5:c.T426C:p.A142A 0.86 0.97 0.8 0.97 0.67 0.85 0.7543 0.9355 0.8269 0.9765 0.7023 0.6688 0.7665 0.8382 0.75 0.92 0.66 0.88 0.52 rs1143694 COSM4144914 1(thyroid) Benign|Benign not_specified|Hepatic_methionine_adenosyltransferase_deficiency RCV000251869.1|RCV000358819.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268621:250850:ORPHA168598:57835009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7544 0.9368 0.8168 0.7571 0.9755 0.6970 0.6662 0.7352 0.8356 0.7657 0.9320 0.8074 0.7483 0.9758 0.7017 0.6626 0.7150 het 1199.76 94 10 82040052 . A G 1199.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.983;DP=94;Dels=0.00;FS=1.808;HRun=1;HaplotypeScore=0.9979;MQ=59.06;MQ0=0;MQRankSum=-1.105;QD=12.76;ReadPosRankSum=0.151;VQSLOD=6.3175;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,45:94:99:1230,0,1210 10 85960395 85960395 A G exonic CDHR1 synonymous SNV CDHR1:NM_001171971:exon6:c.A477G:p.A159A,CDHR1:NM_033100:exon6:c.A477G:p.A159A 0.52 0.71 0.52 0.39 0.46 0.43 0.4947 0.7002 0.5755 0.3877 0.4874 0.4738 0.4609 0.4538 0.52 0.67 0.45 0.55 0.5 rs4933975 . . Benign|Benign not_specified|Cone-Rod_Dystrophy\x2c_Recessive RCV000246706.1|RCV000378774.1 MedGen|MedGen CN169374|CN239309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4734 0.6892 0.5582 0.4536 0.3784 0.4451 0.4522 0.4613 0.4342 0.5136 0.6931 0.5540 0.4233 0.3900 0.4502 0.4404 0.4572 het 664.74 60 10 85960395 . A G 664.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.526;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=57.50;MQ0=0;MQRankSum=0.639;QD=11.08;ReadPosRankSum=1.055;VQSLOD=6.4888;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:695,0,822 10 85974236 85974236 T C exonic CDHR1 synonymous SNV CDHR1:NM_033100:exon17:c.T2439C:p.T813T 0.57 0.83 0.57 0.41 0.52 0.46 0.5341 0.7830 0.5908 0.3929 0.4738 0.5274 0.5033 0.4644 0.6 0.77 0.52 0.63 0.48 rs3814213 COSM3998106 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Cone-Rod_Dystrophy\x2c_Recessive RCV000175239.2|RCV000365022.1 MedGen|MedGen CN169374|CN239309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5314 0.7856 0.5948 0.5637 0.3912 0.4745 0.5236 0.5259 0.4676 0.5827 0.7847 0.5919 0.5132 0.4054 0.4791 0.5141 0.5072 het 1577.92 151 10 85974236 . T C 1577.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.091;DP=151;Dels=0.00;FS=1.307;HRun=1;HaplotypeScore=8.3321;MQ=59.01;MQ0=0;MQRankSum=0.093;QD=10.45;ReadPosRankSum=1.225;VQSLOD=4.4340;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,66:151:99:1608,0,2320 10 85981801 85981801 T G exonic LRIT2 nonsynonymous SNV LRIT2:NM_001017924:exon3:c.A1528C:p.T510P,LRIT2:NM_001284223:exon4:c.A1558C:p.T520P 0.56 0.82 0.53 0.41 0.47 0.45 0.5000 0.7736 0.5720 0.3936 0.4486 0.4719 0.4650 0.4726 0.55 0.75 0.45 0.62 0.47 rs6585847 COSM1349334 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.309 0.145 N 1 0.090 P -2.24 0.001 N 2.91 0.100 T 1.53 0.007 N 0.065 0.225 -1.005 0.284 T 0.000 0.000 T . . . -0.580 0.051 0.140 0.711 0.092 0.004 0.019 N c -1.097 -0.994 0.002 0.087 0.497 0.185 0 5.06 0.677 1.019 0.294 0.136 0.221 0.016 0.191 0.002 0.062 11.377 0.488 . ENSG00000204033.5 Esophagus_Mucosa 0.4942 0.7762 0.5721 0.5070 0.3918 0.4499 0.4673 0.4816 0.4561 0.5480 0.7711 0.5680 0.4667 0.4042 0.4511 0.4618 0.4714 het 1632.92 136 10 85981801 . T G 1632.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.615;DP=136;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.5452;MQ=58.12;MQ0=0;MQRankSum=2.748;QD=12.01;ReadPosRankSum=-0.839;VQSLOD=3.6268;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,60:136:99:1663,0,2139 10 85981842 85981842 A G exonic LRIT2 nonsynonymous SNV LRIT2:NM_001017924:exon3:c.T1487C:p.V496A,LRIT2:NM_001284223:exon4:c.T1517C:p.V506A 0.21 0.052 0.29 0.35 0.23 0.19 0.2128 0.0872 0.2650 0.3309 0.1135 0.2180 0.1753 0.2099 0.18 0.086 0.22 0.18 0.19 rs12217769 COSM3752007;COSM5826813 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.739 0.039 T 0.019 0.167 B 0.006 0.112 B 0.666 0.104 N 1 0.090 P 0 0.065 N 2.32 0.166 T 0.51 0.029 N 0.015 0.153 -0.902 0.478 T 0.000 0.000 T . . . -1.189 0.025 0.007 0.571 0.056 0.008 0.033 N c -1.069 -0.986 0.000 0.038 0.487 0.094 0 2.88 0.325 0.078 0.145 0.041 0.156 0.000 0.063 0.002 0.062 8.319 0.311 . ENSG00000148600.10 Spleen 0.2159 0.0839 0.2716 0.2131 0.3288 0.1170 0.2213 0.2301 0.2063 0.1714 0.0856 0.2721 0.1854 0.3391 0.1244 0.2084 0.1714 het 887.43 78 10 85981842 . A G 887.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.237;DP=78;Dels=0.00;FS=0.907;HRun=2;HaplotypeScore=2.8323;MQ=59.09;MQ0=0;MQRankSum=0.858;QD=11.38;ReadPosRankSum=0.127;VQSLOD=5.9350;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,32:78:99:917,0,1174 10 85981889 85981889 G A exonic LRIT2 synonymous SNV LRIT2:NM_001017924:exon3:c.C1440T:p.G480G,LRIT2:NM_001284223:exon4:c.C1470T:p.G490G 0.19 0.051 0.23 0.29 0.23 0.18 0.1973 0.0863 0.1791 0.2684 0.1126 0.2161 0.1700 0.2005 0.18 0.086 0.22 0.17 0.2 rs12218853 COSM3752008;COSM5826814 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1979 0.0826 0.1901 0.2123 0.2699 0.1167 0.2188 0.2150 0.1990 0.1649 0.0842 0.2064 0.1854 0.2791 0.1239 0.2063 0.1660 het 976.02 75 10 85981889 . G A 976.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.874;DP=75;Dels=0.00;FS=4.613;HRun=0;HaplotypeScore=2.7838;MQ=60.00;MQ0=0;MQRankSum=0.599;QD=13.01;ReadPosRankSum=0.694;VQSLOD=5.3794;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,37:75:99:1006,0,969 10 85984323 85984323 G A exonic LRIT2 nonsynonymous SNV LRIT2:NM_001017924:exon2:c.C658T:p.L220F,LRIT2:NM_001284223:exon2:c.C658T:p.L220F 0.19 0.052 0.23 0.29 0.23 0.18 0.1966 0.0839 0.1788 0.2684 0.1132 0.2163 0.1726 0.1972 0.18 0.086 0.22 0.17 0.25 rs11200925 COSM3752009;COSM5428233 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.183 0.217 T 0.003 0.102 B 0.002 0.063 B 0.001 0.428 N 1.000 0.090 P 0.86 0.214 L 0.59 0.540 T -1.01 0.266 N 0.006 0.002 -1.056 0.126 T 0.000 0.000 T . . . 0.647 0.156 8.474 0.982 0.385 0.036 0.087 N c -0.432 -0.373 0.000 0.035 0.497 0.185 0 -0.067 0.130 4.588 0.605 0.097 0.197 1.000 0.715 0.130 0.199 2.747 0.049 Cysteine-rich flanking region\x2c C-terminal|Leucine-rich repeat domain\x2c L domain-like ENSG00000148600.10 Spleen 0.1991 0.0831 0.1904 0.2127 0.2699 0.1171 0.2211 0.2161 0.1989 0.1660 0.0850 0.2050 0.1854 0.2792 0.1243 0.2083 0.1633 het 1319.53 117 10 85984323 . G A 1319.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DP=117;Dels=0.00;FS=1.727;HRun=1;HaplotypeScore=3.3864;MQ=60.00;MQ0=0;MQRankSum=0.295;QD=11.28;ReadPosRankSum=0.172;VQSLOD=6.0790;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,44:117:99:1350,0,2070 10 85984423 85984423 C T exonic LRIT2 synonymous SNV LRIT2:NM_001017924:exon2:c.G558A:p.G186G,LRIT2:NM_001284223:exon2:c.G558A:p.G186G 0.21 0.052 0.29 0.35 0.23 0.19 0.2103 0.0850 0.2640 0.3318 0.1130 0.2166 0.1788 0.2034 0.18 0.088 0.23 0.18 0.24 rs11200926 COSM3998108 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2157 0.0839 0.2712 0.2125 0.3294 0.1169 0.2214 0.2305 0.2063 0.1713 0.0852 0.2703 0.1854 0.3381 0.1243 0.2086 0.1701 het 843.20 77 10 85984423 . C T 843.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DP=77;Dels=0.00;FS=4.834;HRun=0;HaplotypeScore=1.8561;MQ=58.73;MQ0=0;MQRankSum=0.005;QD=10.95;ReadPosRankSum=1.548;VQSLOD=5.0700;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,32:77:99:873,0,1289 10 85984723 85984723 G A exonic LRIT2 synonymous SNV LRIT2:NM_001017924:exon2:c.C258T:p.L86L,LRIT2:NM_001284223:exon2:c.C258T:p.L86L 0.21 0.052 0.29 0.35 0.23 0.19 0.2103 0.0848 0.2643 0.3314 0.1134 0.2165 0.1784 0.2032 0.18 0.088 0.23 0.18 0.19 rs11200928 COSM5826818;COSM3752010 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2157 0.0840 0.2715 0.2124 0.3294 0.1170 0.2214 0.2299 0.2063 0.1711 0.0847 0.2710 0.1854 0.3375 0.1246 0.2084 0.1711 het 2500.67 200 10 85984723 . G A 2500.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.552;DP=200;DS;Dels=0.00;FS=6.366;HRun=1;HaplotypeScore=2.9852;MQ=59.63;MQ0=0;MQRankSum=-0.942;QD=12.50;ReadPosRankSum=1.293;VQSLOD=4.6646;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,91:200:99:2531,0,3086 10 85992478 85992478 T C exonic LRIT1 synonymous SNV LRIT1:NM_015613:exon4:c.A1077G:p.G359G 0.49 0.87 0.48 0.26 0.4 0.34 0.4326 0.7997 0.5355 0.2477 0.4582 0.4016 0.4287 0.3407 0.52 0.78 0.39 0.55 0.37 rs3814210 COSM3752011 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4283 0.8031 0.5239 0.4660 0.2455 0.4559 0.3925 0.4174 0.3395 0.5101 0.7958 0.5167 0.4470 0.2614 0.4464 0.3916 0.4296 het 624.50 50 10 85992478 . T C 624.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.280;DP=50;Dels=0.00;FS=4.267;HRun=2;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-1.495;QD=12.49;ReadPosRankSum=-0.557;VQSLOD=5.6733;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,22:50:99:654,0,855 10 85992511 85992511 T C exonic LRIT1 synonymous SNV LRIT1:NM_015613:exon4:c.A1044G:p.P348P 0.49 0.87 0.48 0.26 0.4 0.34 0.4323 0.7997 0.5350 0.2463 0.4596 0.4012 0.4278 0.3407 0.52 0.78 0.39 0.55 0.38 rs3814209 COSM3752012 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4282 0.8030 0.5242 0.4660 0.2452 0.4563 0.3923 0.4168 0.3394 0.5099 0.7959 0.5167 0.4470 0.2614 0.4464 0.3912 0.4296 het 1027.36 80 10 85992511 . T C 1027.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.597;DP=80;Dels=0.00;FS=0.859;HRun=0;HaplotypeScore=5.3833;MQ=58.83;MQ0=0;MQRankSum=1.530;QD=12.84;ReadPosRankSum=1.126;VQSLOD=5.2216;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:41,39:80:99:1057,0,1042 10 85993836 85993836 A G exonic LRIT1 synonymous SNV LRIT1:NM_015613:exon3:c.T888C:p.N296N 0.99 1. 1. 1. 0.98 1. 0.9796 0.9868 0.9942 0.9975 0.9559 0.9740 0.9691 0.9931 0.98 0.99 0.98 0.99 0.93 rs4933986 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9862 0.9969 0.9945 0.9845 0.9998 0.9699 0.9813 0.9870 0.9941 0.9849 0.9958 0.9940 0.9768 1 0.9760 0.9785 0.9888 hom 2053.13 74 10 85993836 . A G 2053.13 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4155;MQ=59.75;MQ0=0;QD=27.74;VQSLOD=7.1332;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2086,177,0 10 85993910 85993910 G A exonic LRIT1 synonymous SNV LRIT1:NM_015613:exon3:c.C814T:p.L272L 0.57 0.89 0.54 0.41 0.47 0.43 0.4982 0.8336 0.5774 0.3910 0.4837 0.4613 0.4912 0.4408 0.57 0.81 0.45 0.62 0.43 rs3814206 COSM3998110 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4935 0.8364 0.5726 0.5249 0.3895 0.4843 0.4546 0.4837 0.4336 0.5645 0.8309 0.5597 0.4901 0.4031 0.4779 0.4543 0.4796 het 2425.71 156 10 85993910 . G A 2425.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.058;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3245;MQ=59.48;MQ0=0;MQRankSum=-0.383;QD=15.55;ReadPosRankSum=1.085;VQSLOD=4.5459;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,86:156:99:2456,0,1847 10 86004873 86004873 T C exonic RGR synonymous SNV RGR:NM_001012720:exon1:c.T27C:p.T9T,RGR:NM_001012722:exon1:c.T27C:p.T9T,RGR:NM_002921:exon1:c.T27C:p.T9T 0.63 0.98 0.59 0.49 0.49 0.49 0.5312 0.9087 0.5854 0.4482 0.5112 0.4809 0.5554 0.5075 0.62 0.9 0.48 0.69 0.5 rs2279227 COSM5450678;COSM5450677 1(large_intestine) Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000291793.1|RCV000358703.1 MedGen|MedGen CN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5249 0.9127 0.5872 0.4977 0.4457 0.4912 0.4790 0.5282 0.5071 0.6037 0.9047 0.5658 0.5331 0.4536 0.4925 0.4793 0.5195 het 878.29 84 10 86004873 . T C 878.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.912;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=59.78;MQ0=0;MQRankSum=-1.062;QD=10.46;ReadPosRankSum=-0.131;VQSLOD=6.4807;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,36:84:99:908,0,1247 10 86012713 86012713 C T exonic RGR synonymous SNV RGR:NM_001012720:exon4:c.C459T:p.Y153Y,RGR:NM_001012722:exon4:c.C459T:p.Y153Y,RGR:NM_002921:exon4:c.C471T:p.Y157Y 0.5 0.85 0.48 0.33 0.36 0.37 0.4184 0.7934 0.5179 0.2974 0.4541 0.3629 0.4502 0.3836 0.51 0.78 0.36 0.55 0.4 rs1042454 COSM146980 1(stomach);1(prostate);1(thyroid);1(large_intestine) Benign|Benign not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000178138.1|RCV000270122.1 MedGen|MedGen CN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4150 0.7973 0.5095 0.3684 0.2941 0.4407 0.3610 0.4114 0.3821 0.4970 0.7942 0.4785 0.4106 0.3135 0.4376 0.3650 0.4267 het 1098.38 88 10 86012713 . C T 1098.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.016;DP=88;Dels=0.00;FS=3.595;HRun=0;HaplotypeScore=0.5784;MQ=59.36;MQ0=0;MQRankSum=-1.674;QD=12.48;ReadPosRankSum=-0.771;VQSLOD=5.6828;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,40:88:99:1128,0,1252 10 88203068 88203068 T C exonic WAPL synonymous SNV WAPL:NM_001318328:exon17:c.A3357G:p.T1119T,WAPL:NM_015045:exon17:c.A3375G:p.T1125T 0.81 0.81 0.77 0.63 0.93 0.91 0.8708 0.8286 0.7310 0.5919 0.9524 0.9184 0.8711 0.9167 0.89 0.83 0.92 0.88 0.88 rs7094132 COSM5420192;COSM5420193 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8669 0.8306 0.7385 0.8827 0.5893 0.9544 0.9205 0.8666 0.9171 0.8814 0.8273 0.7590 0.8974 0.6027 0.9476 0.9316 0.9153 hom 5714.87 203 10 88203068 . T C 5714.87 Mask AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3502;MQ=59.53;MQ0=0;QD=28.15;VQSLOD=6.3921;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:5714,448,0 10 88277457 88277457 C T exonic WAPL nonsynonymous SNV WAPL:NM_001318328:exon2:c.G370A:p.V124I,WAPL:NM_015045:exon2:c.G370A:p.V124I 0.19 0.064 0.12 0.18 0.28 0.34 0.2475 0.0945 0.0896 0.1902 0.2910 0.2754 0.2373 0.3549 0.22 0.1 0.28 0.16 0.2 rs10887621 COSM4418355 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.089 0.321 T 0.06 0.217 B 0.02 0.179 B 0.524 0.117 N 1.000 0.090 P 0 0.065 N 1.96 0.223 T -0.11 0.087 N 0.01 0.001 -0.951 0.409 T 0.000 0.000 T . . . 0.372 0.130 6.364 0.952 0.258 0.403 0.262 N c -0.643 -0.547 1.000 0.480 0.707 0.730 0 1.12 0.196 1.520 0.353 0.935 0.490 0.944 0.326 0.977 0.480 10.075 0.413 . . . 0.2422 0.0939 0.0989 0.2497 0.1916 0.2889 0.2741 0.2255 0.3519 0.2245 0.0954 0.1229 0.2682 0.2179 0.2871 0.2885 0.2572 het 1342.50 112 10 88277457 . C T 1342.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.544;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8930;MQ=59.00;MQ0=0;MQRankSum=-0.198;QD=11.99;ReadPosRankSum=0.653;VQSLOD=6.4830;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,53:112:99:1372,0,1522 10 88414570 88414570 G A exonic OPN4 synonymous SNV OPN4:NM_001030015:exon1:c.G30A:p.P10P,OPN4:NM_033282:exon1:c.G30A:p.P10P 0.24 0.062 0.18 0.28 0.3 0.4 0.2947 0.0936 0.14 0.2601 0.3278 0.3243 0.2817 0.4156 0.25 0.098 0.33 0.22 0.2 rs11202106 COSM3752015;COSM3752016 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2894 0.0926 0.1500 0.3441 0.2567 0.3313 0.3183 0.2693 0.4088 0.2633 0.1009 0.1647 0.3567 0.2661 0.3301 0.3426 0.3126 het 1593.81 135 10 88414570 . G A 1593.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.362;DP=135;Dels=0.00;FS=2.299;HRun=0;HaplotypeScore=10.1777;MQ=59.24;MQ0=0;MQRankSum=0.804;QD=11.81;ReadPosRankSum=0.242;VQSLOD=3.6339;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,63:135:99:1624,0,1754 10 88422116 88422116 C T exonic OPN4 nonsynonymous SNV OPN4:NM_033282:exon8:c.C1181T:p.T394I,OPN4:NM_001030015:exon9:c.C1214T:p.T405I 0.75 0.8 0.76 0.79 0.63 0.77 0.7285 0.7932 0.7824 0.8167 0.7191 0.6905 0.7068 0.7532 0.69 0.77 0.65 0.78 0.4 rs1079610 COSM3978859;COSM3978860 1(lung);1(thyroid) . . . . . . . . . . . 0.656 0.047 T 0.0 0.067 B 0.001 0.080 B 0.041 0.240 N 0.999 0.220 P 0.755 0.192 N 1.47 0.320 T -1.44 0.354 N 0.086 0.365 -1.018 0.245 T 0.000 0.000 T . . . 0.553 0.147 7.821 0.796 0.124 0.865 0.455 D c -0.888 -0.793 1.000 0.428 0.517 0.208 0 1.06 0.193 2.063 0.408 -0.356 0.069 1.000 0.715 0.662 0.301 10.994 0.466 . ENSG00000122367.15|ENSG00000122375.7|ENSG00000122367.15|ENSG00000122375.7|ENSG00000122375.7|ENSG00000122367.15|ENSG00000122375.7|ENSG00000122367.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic 0.6955 0.7827 0.7472 0.6880 0.7981 0.6743 0.6435 0.6698 0.7382 0.7009 0.7769 0.7344 0.7267 0.7899 0.6803 0.6501 0.6892 het 115.03 15 10 88422116 . C T 115.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.141;DP=15;Dels=0.00;FS=2.027;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=1.794;QD=7.67;ReadPosRankSum=0.752;VQSLOD=5.0872;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,7:15:99:145,0,226 10 88422151 88422151 C A exonic OPN4 synonymous SNV OPN4:NM_033282:exon8:c.C1216A:p.R406R,OPN4:NM_001030015:exon9:c.C1249A:p.R417R 0.23 0.039 0.17 0.28 0.3 0.4 0.3721 0.1001 0.2612 0.3473 0.4632 0.4029 0.3295 0.4324 0.24 0.082 0.32 0.18 0.15 rs3740337 COSM3752017;COSM3752018 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2921 0.0744 0.1563 0.3502 0.2598 0.3343 0.3220 0.2619 0.4096 0.2580 0.0813 0.1615 0.3576 0.2686 0.3301 0.3429 0.3112 het 162.01 14 10 88422151 . C A 162.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.910;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.027;QD=11.57;ReadPosRankSum=0.068;VQSLOD=11.7876;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:192,0,159 10 88702350 88702350 G C exonic MMRN2 nonsynonymous SNV MMRN2:NM_024756:exon6:c.C2191G:p.H731D 0.95 0.86 0.97 1. 0.98 0.98 0.9616 0.8835 0.9728 0.9999 0.9814 0.9612 0.9458 0.9773 0.94 0.88 0.96 0.51 0.84 rs4934281 COSM4144940 1(thyroid) . . . . . . . . . . . 0.472 0.084 T 0.0 0.026 B 0.0 0.013 B 0.068 0.217 N 1 0.090 P -0.69 0.019 N 2.61 0.131 T 1.15 0.012 N 0.027 0.009 -0.975 0.360 T 0.000 0.000 T . . . -0.075 0.087 1.923 0.754 0.107 0.002 0.011 N c -1.488 -1.404 0.999 0.375 0.672 0.522 0 1.02 0.190 -0.013 0.125 -0.017 0.130 0.000 0.063 0.003 0.074 11.723 0.508 . . . 0.9649 0.8825 0.9769 0.9327 0.9999 0.9816 0.9642 0.9583 0.9764 0.9463 0.8813 0.9761 0.9404 1 0.9805 0.9670 0.9725 hom 1791.45 56 10 88702350 . G C 1791.45 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=60.00;MQ0=0;QD=31.99;VQSLOD=9.1164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1824,141,0 10 88702390 88702390 G A exonic MMRN2 synonymous SNV MMRN2:NM_024756:exon6:c.C2151T:p.A717A 0.2 0.11 0.22 0.065 0.3 0.35 0.2776 0.1563 0.1770 0.0754 0.3271 0.3199 0.2694 0.3299 0.25 0.14 0.3 0.26 0.15 rs10887673 COSM3752021 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2566 0.1368 0.1658 0.2694 0.0729 0.3075 0.3041 0.2663 0.3193 0.2452 0.1382 0.1850 0.2567 0.0697 0.2955 0.3144 0.2975 het 326.39 34 10 88702390 . G A 326.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.548;DP=34;Dels=0.00;FS=2.455;HRun=0;HaplotypeScore=2.8371;MQ=59.32;MQ0=0;MQRankSum=0.492;QD=9.60;ReadPosRankSum=1.257;VQSLOD=5.4467;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,14:34:99:356,0,586 10 88717140 88717140 T A exonic MMRN2 synonymous SNV MMRN2:NM_024756:exon1:c.A159T:p.V53V 0.98 0.97 0.98 1. 0.98 0.98 0.9722 0.9774 0.9798 0.9999 0.9816 0.9640 0.9615 0.9790 0.97 0.98 0.97 0.97 0.87 rs4244973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9736 0.9785 0.9826 0.9337 0.9999 0.9815 0.9670 0.9684 0.9781 0.9753 0.9782 0.9892 0.9404 0.9994 0.9805 0.9695 0.9796 hom 7230.20 241 10 88717140 . T A 7230.20 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8129;MQ=59.59;MQ0=0;QD=30.00;VQSLOD=6.4924;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:7229,563,0 10 88719789 88719789 C G exonic SNCG nonsynonymous SNV SNCG:NM_001330120:exon5:c.C247G:p.R83G 0.23 0.27 0.23 0.061 0.23 0.35 0.2827 0.3118 0.2798 0.0970 0.2875 0.2854 0.2664 0.3427 0.26 0.27 0.25 0.3 0.21 rs760113 COSM3752022;COSM5826820 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 1 0.498 P . . . -2.41 0.885 D -0.19 0.100 N . . -0.917 0.460 T 0.000 0.000 T . . . 1.585 0.252 13.77 0.846 0.149 0.087 0.144 N c -1.103 -1.294 1.000 0.747 0.742 0.980 0 -8.16 0.009 -1.376 0.026 -0.916 0.026 0.001 0.137 0.966 0.452 1.049 0.015 . ENSG00000272508.1|ENSG00000272508.1|ENSG00000272508.1|ENSG00000272508.1|ENSG00000173267.9|ENSG00000173267.9|ENSG00000272508.1|ENSG00000272508.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Thyroid 0.2288 0.2750 0.1993 0.2235 0.0756 0.1975 0.2427 0.2269 0.3009 0.2418 0.2880 0.1957 0.2119 0.0729 0.1943 0.2481 0.2321 het 304.62 30 10 88719789 . C G 304.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.850;DP=30;Dels=0.00;FS=3.544;HRun=1;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;MQRankSum=0.395;QD=10.15;ReadPosRankSum=-2.058;VQSLOD=4.9922;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,14:30:99:335,0,438 10 88722398 88722398 A T exonic SNCG stoploss SNCG:NM_001330120:exon6:c.A381T:p.X127C 0.2 0.17 0.22 0.064 0.23 0.35 0.2377 0.1937 0.2096 0.0780 0.2234 0.2511 0.2335 0.3207 0.23 0.19 0.25 0.28 0.2 rs9864 COSM5826821;COSM3752023 1(large_intestine) . . . . . . . . . . . 0.145 0.251 T 0.174 0.272 B 0.114 0.302 B 0.813 0.068 N 1 0.090 P . . . -1.87 0.844 D -1.72 0.408 N 0.109 0.117 -1.006 0.283 T 0.000 0.000 T . . . 1.461 0.238 13.11 0.856 0.155 0.399 0.261 N c -0.500 -0.591 1.000 0.747 0.706 0.609 0 2.63 0.303 0.880 0.276 1.028 0.649 0.036 0.206 0.187 0.214 7.157 0.247 . ENSG00000272508.1|ENSG00000272508.1|ENSG00000272508.1|ENSG00000272508.1|ENSG00000272508.1|ENSG00000173267.9|ENSG00000173267.9|ENSG00000272508.1|ENSG00000272508.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Thyroid 0.2213 0.1813 0.1937 0.2225 0.0756 0.1971 0.2408 0.2244 0.3000 0.2158 0.1944 0.1878 0.2152 0.0726 0.1939 0.2498 0.2280 het 289.26 39 10 88722398 . A T 289.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.653;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;MQRankSum=-1.534;QD=7.42;ReadPosRankSum=0.581;VQSLOD=4.9981;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,13:39:99:319,0,731 10 88768253 88768253 A G exonic AGAP11 nonsynonymous SNV AGAP11:NM_133447:exon12:c.A244G:p.I82V 0.79 0.86 0.75 0.93 0.7 0.67 0.7313 0.8388 0.7504 0.9108 0.7542 0.6931 0.7672 0.7022 0.74 0.83 0.69 0.25 . rs2641563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7355 0.8401 0.7595 0.7357 0.9091 0.7585 0.6907 0.7421 0.7043 0.7551 0.8358 0.7751 0.7533 0.9090 0.7636 0.6892 0.7439 het 2684.28 250 10 88768253 . A G 2684.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.717;DP=250;DS;Dels=0.00;FS=2.960;HRun=0;HaplotypeScore=4.5297;MQ=57.25;MQ0=1;MQRankSum=0.442;QD=10.74;ReadPosRankSum=-0.874;VQSLOD=3.6292;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:2714,0,3911 10 88768657 88768657 C T exonic AGAP11 synonymous SNV AGAP11:NM_133447:exon12:c.C648T:p.D216D 0.78 0.81 0.75 0.93 0.7 0.67 0.7274 0.7921 0.7486 0.9101 0.7544 0.6929 0.7594 0.7027 0.72 0.78 0.68 0.77 . rs1745901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7323 0.7945 0.7578 0.7356 0.9087 0.7585 0.6904 0.7401 0.7048 0.7421 0.7901 0.7722 0.7550 0.9093 0.7643 0.6890 0.7434 het 3070.16 195 10 88768657 . C T 3070.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.488;DP=195;DS;Dels=0.00;FS=3.863;HRun=0;HaplotypeScore=1.9978;MQ=54.07;MQ0=0;MQRankSum=2.331;QD=15.74;ReadPosRankSum=0.480;VQSLOD=2.5194;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,111:195:99:3100,0,2224 10 88930249 88930249 A T exonic FAM35A nonsynonymous SNV FAM35A:NM_001330112:exon5:c.A1648T:p.S550C,FAM35A:NM_019054:exon5:c.A1648T:p.S550C 0.28 0.18 0.26 0.16 0.36 0.45 0.3463 0.2010 0.2602 0.1587 0.3377 0.3845 0.3322 0.4617 0.32 0.2 0.39 0.28 0.38 rs11202365 COSM4144943;COSM4144944 2(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 0.017 0.524 D 0.995 0.657 D 0.785 0.557 P 0.362 0.136 N 1 0.090 P 2.3 0.659 M -0.13 0.648 T -2.87 0.652 D 0.143 0.272 -0.930 0.442 T 0.000 0.000 T . . . 4.059 0.545 23.7 0.979 0.360 0.296 0.236 N c -0.320 -0.372 0.965 0.288 0.706 0.609 0 2.92 0.329 1.264 0.324 0.111 0.205 0.895 0.311 0.150 0.205 4.882 0.130 . ENSG00000214562.9|ENSG00000214562.9|ENSG00000214562.9|ENSG00000214562.9|ENSG00000214562.9|ENSG00000214562.9|ENSG00000214562.9|ENSG00000214562.9|ENSG00000214562.9|ENSG00000214562.9|ENSG00000214562.9|ENSG00000122376.7|ENSG00000223482.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.3352 0.1964 0.2486 0.3562 0.1570 0.3399 0.3818 0.3470 0.4223 0.3152 0.1987 0.2668 0.3543 0.1609 0.3434 0.3926 0.3508 hom 3425.72 115 10 88930249 . A T 3425.72 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=29.79;VQSLOD=7.9825;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3425,259,0 10 90342837 90342837 C G exonic RNLS nonsynonymous SNV RNLS:NM_001031709:exon1:c.G111C:p.E37D,RNLS:NM_018363:exon1:c.G111C:p.E37D 0.48 0.54 0.39 0.45 0.48 0.48 0.4600 0.5315 0.4747 0.4302 0.5339 0.4399 0.5077 0.4688 0.47 0.54 0.43 0.52 0.26 rs2296545 COSM4144954;COSM4144955 1(bone);1(thyroid) . . . . . . . . . . . 0.486 0.205 T 0.425 0.336 B 0.121 0.307 B 0.003 0.350 N 1.000 0.233 P -0.42 0.029 N 3.44 0.952 T -1.35 0.356 N 0.018 0.043 -0.917 0.459 T 0.000 0.000 T . . . 1.310 0.222 12.32 0.985 0.419 0.023 0.066 N c -1.054 -1.031 1.000 0.747 0.442 0.072 0 -0.832 0.102 -0.517 0.063 0.016 0.142 0.000 0.063 0.127 0.198 6.914 0.234 FAD/NAD(P)-binding domain . . 0.4579 0.5319 0.4668 0.4761 0.4258 0.5357 0.4315 0.4472 0.4635 0.4782 0.5241 0.4821 0.4503 0.4271 0.5530 0.4408 0.4664 het 1309.96 131 10 90342837 . C G 1309.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.082;DP=131;Dels=0.00;FS=0.655;HRun=0;HaplotypeScore=4.2863;MQ=59.54;MQ0=0;MQRankSum=0.452;QD=10.00;ReadPosRankSum=-1.202;VQSLOD=5.3620;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,58:131:99:1340,0,1998 10 90356598 90356598 A G exonic LIPJ nonsynonymous SNV LIPJ:NM_001010939:exon8:c.A628G:p.I210V 0.89 0.98 0.85 0.99 0.75 0.85 0.7994 0.9415 0.8764 0.9875 0.7955 0.7320 0.8095 0.8312 0.79 0.93 0.72 0.94 0.43 rs1409136 . . . . . . . . . . . . . 0.259 0.166 T 0.0 0.026 B 0.008 0.127 B 0.161 0.030 N 1 0.090 P 0.11 0.085 N 0.04 0.621 T -0.58 0.174 N 0.005 0.000 -0.994 0.316 T 0.000 0.000 T . . . -2.746 0.002 0.001 0.190 0.006 0.003 0.016 N c -2.248 -2.314 0.975 0.295 0.554 0.246 0 -8.23 0.009 -7.400 0.000 -3.682 0.001 0.000 0.063 0.000 0.016 4.417 0.108 Alpha/Beta hydrolase fold ENSG00000204020.5 Whole_Blood 0.7969 0.9457 0.8647 0.8223 0.9872 0.7946 0.7188 0.7758 0.8251 0.8171 0.9352 0.8481 0.7733 0.98 0.8029 0.7341 0.7975 hom 1718.44 60 10 90356598 . A G 1718.44 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.54;MQ0=0;QD=28.64;VQSLOD=8.2541;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1751,138,0 10 90429652 90429652 A G exonic LIPF nonsynonymous SNV LIPF:NM_001198828:exon5:c.A382G:p.T128A,LIPF:NM_004190:exon5:c.A481G:p.T161A,LIPF:NM_001198829:exon6:c.A511G:p.T171A,LIPF:NM_001198830:exon6:c.A412G:p.T138A 0.17 0.0098 0.2 0.31 0.17 0.21 0.1759 0.0414 0.1559 0.3004 0.1451 0.1787 0.1465 0.2125 0.13 0.045 0.18 0.098 0.14 rs814628 COSM5941320;COSM5941321 1(skin) . . . . . . . . . . . 0.007 0.599 D 0.994 0.657 D 0.896 0.677 P 0.000 0.559 D 0.000 0.548 P 3.385 0.917 M 0.06 0.618 T -4.82 0.808 D 0.361 0.486 -1.153 0.009 T 0.000 0.000 T . . . 5.058 0.681 25.2 0.997 0.802 0.993 0.940 D c 0.887 0.779 1.000 0.489 0.554 0.283 0 5.24 0.728 8.865 0.918 1.088 0.866 1.000 0.715 0.942 0.416 14.264 0.655 Alpha/Beta hydrolase fold|Alpha/beta hydrolase fold-1 ENSG00000204021.3 Skin_Sun_Exposed_Lower_leg 0.1761 0.0397 0.1598 0.1812 0.3005 0.1414 0.1773 0.1623 0.2137 0.1331 0.0434 0.1718 0.1987 0.3078 0.1346 0.1604 0.1660 het 2770.92 248 10 90429652 . A G 2770.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.680;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5478;MQ=59.00;MQ0=0;MQRankSum=-0.301;QD=11.17;ReadPosRankSum=-1.010;VQSLOD=5.1748;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:146,102:248:99:2801,0,3918 10 90438207 90438207 A G exonic LIPF synonymous SNV LIPF:NM_001198828:exon10:c.A867G:p.Q289Q,LIPF:NM_004190:exon10:c.A966G:p.Q322Q,LIPF:NM_001198829:exon11:c.A996G:p.Q332Q,LIPF:NM_001198830:exon11:c.A897G:p.Q299Q 0.23 0.12 0.31 0.33 0.21 0.23 0.2227 0.1433 0.2564 0.3347 0.2306 0.2121 0.1905 0.2317 0.18 0.14 0.21 0.13 0.17 rs1228187 COSM3752026;COSM3752027 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2251 0.1426 0.2541 0.2243 0.3345 0.2271 0.2088 0.2068 0.2343 0.1947 0.1413 0.2410 0.2285 0.3462 0.2120 0.1999 0.2301 het 3052.73 220 10 90438207 . A G 3052.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.601;DP=220;Dels=0.00;FS=0.503;HRun=0;HaplotypeScore=3.7785;MQ=59.49;MQ0=0;MQRankSum=-0.303;QD=13.88;ReadPosRankSum=-0.269;VQSLOD=6.2226;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,115:220:99:3083,0,2505 10 90490921 90490921 G A exonic LIPK synonymous SNV LIPK:NM_001080518:exon3:c.G405A:p.P135P 0.26 0.19 0.29 0.35 0.21 0.28 0.3053 0.2367 0.3678 0.4472 0.2190 0.2865 0.2548 0.3422 0.21 0.19 0.22 0.2 . rs412227 COSM4144958;COSM4144957 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2331 0.1837 0.2580 0.2445 0.3797 0.1613 0.2129 0.2184 0.2890 0.2043 0.1836 0.2494 0.2483 0.3722 0.1513 0.2059 0.2245 het 346.34 27 10 90490921 . G A 346.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.752;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.461;QD=12.83;ReadPosRankSum=0.412;VQSLOD=6.6448;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,14:27:99:376,0,361 10 90503075 90503075 T C exonic LIPK synonymous SNV LIPK:NM_001080518:exon8:c.T957C:p.H319H 0.26 0.2 0.29 0.35 0.22 0.26 0.3368 0.2643 0.4226 0.4800 0.2611 0.3285 0.3082 0.3135 0.22 0.21 0.22 0.2 . rs390152 COSM1349666;COSM1349667 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2428 0.1949 0.2626 0.2513 0.3792 0.1708 0.2257 0.2230 0.2755 0.2141 0.1946 0.2566 0.2517 0.3761 0.1598 0.2168 0.2260 het 148.83 18 10 90503075 . T C 148.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.111;DP=18;Dels=0.00;FS=4.560;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=1.288;QD=8.27;ReadPosRankSum=-0.489;VQSLOD=4.4188;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:179,0,287 10 90512306 90512306 G C exonic LIPK nonsynonymous SNV LIPK:NM_001080518:exon9:c.G993C:p.M331I 0.19 0.0068 0.28 0.29 0.21 0.23 0.2704 0.0690 0.4080 0.4386 0.2266 0.2854 0.2706 0.2604 0.16 0.049 0.21 0.11 . rs1214464 COSM5983401;COSM5983402 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.076 0.342 T 0.275 0.302 B 0.213 0.357 B 0.021 0.268 N 0.263 0.338 P 1.155 0.297 L 0.02 0.623 T -2.67 0.571 D 0.084 0.088 -1.058 0.123 T 0.000 0.000 T . . . 2.921 0.412 21.9 0.980 0.371 0.824 0.413 D c -0.213 -0.034 0.362 0.198 0.554 0.246 0 3.69 0.413 1.126 0.307 1.048 0.713 0.882 0.308 0.974 0.471 10.428 0.434 Alpha/Beta hydrolase fold|Alpha/beta hydrolase fold-1 ENSG00000204021.3 Skin_Sun_Exposed_Lower_leg 0.2050 0.0388 0.2414 0.2093 0.2919 0.1547 0.2019 0.1964 0.2442 0.1592 0.0458 0.2464 0.2119 0.3029 0.1482 0.2043 0.1938 het 236.71 16 10 90512306 . G C 236.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.200;DP=16;Dels=0.00;FS=2.307;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;MQRankSum=-0.597;QD=14.79;ReadPosRankSum=-1.573;VQSLOD=5.5862;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,10:16:99:267,0,165 10 90524237 90524237 T C exonic LIPN synonymous SNV LIPN:NM_001102469:exon3:c.T297C:p.A99A 0.27 0.24 0.3 0.35 0.22 0.26 0.2462 0.2617 0.2675 0.3804 0.1724 0.2247 0.2049 0.2712 0.24 0.27 0.22 0.23 . rs430517 COSM3998122 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2437 0.2621 0.2602 0.2517 0.3796 0.1675 0.2224 0.2236 0.2739 0.2321 0.2623 0.2578 0.2517 0.3730 0.1585 0.2157 0.2280 het 1141.32 71 10 90524237 . T C 1141.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.162;DP=71;Dels=0.00;FS=5.601;HRun=1;HaplotypeScore=4.2463;MQ=56.33;MQ0=0;MQRankSum=0.331;QD=16.07;ReadPosRankSum=1.230;VQSLOD=2.3223;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,40:71:99:1171,0,828 10 90537942 90537942 C T exonic LIPN synonymous SNV LIPN:NM_001102469:exon9:c.C1140T:p.L380L 0.13 0.0038 0.15 0.27 0.055 0.2 0.0973 0.0155 0.1081 0.2750 0.0300 0.0643 0.0781 0.2040 0.046 0.016 0.06 0.054 . rs11202851 COSM3998123 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0923 0.0139 0.0992 0.1613 0.2589 0.0326 0.0529 0.0753 0.1975 0.0528 0.0125 0.1005 0.1457 0.2447 0.0260 0.0571 0.0621 het 350.12 36 10 90537942 . C T 350.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.829;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7992;MQ=60.00;MQ0=0;MQRankSum=0.225;QD=9.73;ReadPosRankSum=-0.128;VQSLOD=5.7656;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:36:99:380,0,572 10 90681048 90681048 C T exonic STAMBPL1 synonymous SNV STAMBPL1:NM_020799:exon9:c.C1050T:p.P350P 0.027 0.027 0.01 0.039 0.0089 0.043 0.0162 0.0224 0.0038 0.0255 0.0128 0.0082 0.0088 0.0497 0.012 0.02 0.0084 0.022 0.0082 rs34083181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0151 0.0209 0.0029 0.0238 0.0255 0.0136 0.0068 0.0083 0.0494 0.0135 0.0203 0.0048 0.0232 0.0286 0.0112 0.0087 0.0143 het 1463.59 101 10 90681048 . C T 1463.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.092;DP=101;Dels=0.00;FS=1.972;HRun=0;HaplotypeScore=2.9859;MQ=59.36;MQ0=0;MQRankSum=-0.153;QD=14.49;ReadPosRankSum=1.551;VQSLOD=5.8379;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,55:101:99:1494,0,1283 10 90771829 90771829 T C exonic FAS synonymous SNV FAS:NM_152871:exon6:c.T579C:p.T193T,FAS:NM_000043:exon7:c.T642C:p.T214T,FAS:NM_152872:exon7:c.T642C:p.T214T 0.78 0.65 0.79 0.96 0.7 0.82 0.7561 0.6762 0.8665 0.9831 0.7930 0.6988 0.7759 0.8261 0.7 0.69 0.7 0.74 0.77 rs2234978 . . Benign|Benign not_specified|Autoimmune_lymphoproliferative_syndrome RCV000244361.1|RCV000284596.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1328840:601859:ORPHA3261 Immunoglobulin A 1.32 . 20694011 rs2234978 6E-6 . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . -0.976 0.033 0.018 0.498 0.042 0.000 0.003 N n -0.387 -0.225 0.793 0.240 0.706 0.609 0 -0.619 0.109 -0.710 0.051 -2.424 0.003 0.000 0.063 0.000 0.016 0.396 0.004 . ENSG00000026103.15|ENSG00000026103.15|ENSG00000261438.1|ENSG00000026103.15|ENSG00000026103.15|ENSG00000026103.15|ENSG00000026103.15|ENSG00000180139.10|ENSG00000107796.8 Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Breast_Mammary_Tissue|Esophagus_Muscularis|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Whole_Blood|Whole_Blood 0.7651 0.6741 0.8584 0.7304 0.9841 0.7893 0.6979 0.7552 0.8249 0.7328 0.6849 0.8146 0.7649 0.9840 0.7967 0.7117 0.7576 het 1547.61 116 10 90771829 . T C 1547.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.534;DP=116;Dels=0.00;FS=7.336;HRun=1;HaplotypeScore=2.7831;MQ=59.48;MQ0=0;MQRankSum=0.271;QD=13.34;ReadPosRankSum=1.309;VQSLOD=4.8860;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,59:116:99:1578,0,1493 10 90966546 90966546 C T exonic CH25H synonymous SNV CH25H:NM_003956:exon1:c.G504A:p.A168A 0.28 0.0083 0.26 0.74 0.13 0.33 0.2133 0.0247 0.3354 0.7727 0.2439 0.1257 0.2059 0.2961 0.084 0.026 0.11 0.2 0.09 rs4078488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2199 0.0227 0.3139 0.1581 0.7616 0.2489 0.1156 0.1934 0.2942 0.1509 0.0272 0.3055 0.1623 0.7655 0.2372 0.1254 0.1894 het 2612.56 213 10 90966546 . C T 2612.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.953;DP=213;DS;Dels=0.00;FS=8.152;HRun=0;HaplotypeScore=7.8899;MQ=59.59;MQ0=0;MQRankSum=-1.162;QD=12.27;ReadPosRankSum=0.751;VQSLOD=3.5110;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,100:213:99:2643,0,2969 10 91007360 91007360 T G exonic LIPA nonsynonymous SNV LIPA:NM_000235:exon2:c.A46C:p.T16P,LIPA:NM_001127605:exon2:c.A46C:p.T16P 0.29 0.11 0.35 0.31 0.33 0.41 0.3163 0.1271 0.4043 0.2981 0.3420 0.3056 0.2775 0.4184 0.24 0.13 0.3 0.26 0.3 rs1051338 COSM3998124 2(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign|Benign not_specified|Wolman_disease RCV000175562.2|RCV000350905.1 . . . . . . . . 0.238 0.232 T 0.002 0.090 B 0.002 0.063 B . . . 0.999 0.588 P 0 0.065 N -0.51 0.776 T -1.21 0.334 N 0.217 0.492 -1.083 0.068 T 0.000 0.000 T . . . 2.881 0.407 21.8 0.990 0.492 0.186 0.201 N c -0.667 -0.550 0.951 0.279 0.706 0.609 0 3.72 0.417 0.002 0.129 1.061 0.807 0.000 0.063 0.026 0.142 7.513 0.266 . ENSG00000107798.13|ENSG00000107798.13|ENSG00000107798.13|ENSG00000107798.13|ENSG00000107798.13|ENSG00000107798.13|ENSG00000107798.13|ENSG00000107798.13 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Colon_Transverse|Lung|Pancreas|Thyroid|Whole_Blood 0.3224 0.1247 0.3908 0.3221 0.3016 0.3420 0.3020 0.3204 0.4176 0.2614 0.1298 0.4243 0.3377 0.3494 0.3378 0.2966 0.3299 hom 3118.70 110 10 91007360 . T G 3118.70 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.4105;MQ=59.58;MQ0=0;QD=28.35;VQSLOD=8.1846;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3152,235,0 10 91066460 91066460 T A exonic IFIT2 synonymous SNV IFIT2:NM_001547:exon2:c.T747A:p.V249V 0.68 0.88 0.5 0.86 0.51 0.54 0.5572 0.8308 0.5382 0.8762 0.4704 0.4904 0.5578 0.5464 0.6 0.83 0.49 0.69 0.48 rs954439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5504 0.8373 0.5347 0.5574 0.8758 0.4649 0.4837 0.5373 0.5469 0.5965 0.8219 0.5489 0.5767 0.8889 0.4602 0.4745 0.4990 het 1287.68 101 10 91066460 . T A 1287.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.972;DP=101;Dels=0.00;FS=1.619;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;MQRankSum=-0.745;QD=12.75;ReadPosRankSum=2.041;VQSLOD=4.6688;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,51:101:99:1318,0,1294 10 91066769 91066769 C A exonic IFIT2 nonsynonymous SNV IFIT2:NM_001547:exon2:c.C1056A:p.D352E 0.88 0.99 0.69 0.99 0.76 0.87 0.8011 0.9542 0.7105 0.9898 0.8081 0.7578 0.8267 0.8459 0.81 0.95 0.75 0.87 0.77 rs1727 . . . . . . . . . . . . . 0.977 0.020 T 0.0 0.026 B 0.0 0.013 B 0.691 0.102 N 0.000 0.588 P -2.16 0.001 N 1.46 0.322 T 1.87 0.005 N 0.048 0.029 -0.994 0.316 T 0.000 0.000 T . . . 1.553 0.248 13.60 0.822 0.136 0.067 0.126 N c -1.178 -0.923 1.000 0.429 0.563 0.310 0 2.19 0.268 0.871 0.275 -0.111 0.115 0.999 0.424 0.820 0.343 7.374 0.258 Tetratricopeptide-like helical domain . . 0.7954 0.9582 0.7143 0.7938 0.9901 0.8077 0.7517 0.7892 0.8451 0.8321 0.9491 0.7375 0.8046 0.9926 0.8050 0.7619 0.7847 het 1110.46 100 10 91066769 . C A 1110.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.659;DP=100;Dels=0.00;FS=1.636;HRun=1;HaplotypeScore=0.9469;MQ=59.35;MQ0=0;MQRankSum=-0.093;QD=11.10;ReadPosRankSum=0.868;VQSLOD=6.7581;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,46:100:99:1140,0,1398 10 91098877 91098877 G A exonic IFIT3 synonymous SNV IFIT3:NM_001031683:exon2:c.G465A:p.A155A,IFIT3:NM_001549:exon2:c.G465A:p.A155A,IFIT3:NM_001289758:exon3:c.G309A:p.A103A,IFIT3:NM_001289759:exon3:c.G309A:p.A103A 0.01 . 0.01 0.001 0.019 0.025 0.0158 0.0027 0.0053 0.0006 0.0168 0.0157 0.0220 0.0386 0.013 0.0034 0.018 0.011 0.016 rs34847428 COSM1349703 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0154 0.0026 0.0051 0.0128 0.0007 0.0167 0.0160 0.0141 0.0394 0.0106 0.0036 0.0095 0.0033 0.0006 0.0123 0.0156 0.0102 het 1409.53 109 10 91098877 . G A 1409.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.053;DP=109;Dels=0.00;FS=3.560;HRun=2;HaplotypeScore=1.5983;MQ=58.24;MQ0=0;MQRankSum=-0.270;QD=12.93;ReadPosRankSum=2.143;VQSLOD=4.0306;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,56:109:99:1440,0,1222 10 91143529 91143529 T A exonic IFIT1B synonymous SNV IFIT1B:NM_001010987:exon2:c.T459A:p.G153G 0.71 0.95 0.51 0.87 0.53 0.56 0.5712 0.8868 0.5439 0.8728 0.5014 0.5015 0.5760 0.5432 0.62 0.87 0.49 0.71 0.53 rs304494 COSM5425484 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5631 0.8917 0.5445 0.5961 0.8719 0.4989 0.4913 0.5601 0.5433 0.6197 0.8830 0.5610 0.6225 0.8748 0.4968 0.4773 0.5092 het 1712.68 126 10 91143529 . T A 1712.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.468;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0552;MQ=57.90;MQ0=0;MQRankSum=-1.163;QD=13.59;ReadPosRankSum=0.808;VQSLOD=4.4223;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,65:126:99:1743,0,1481 10 91162497 91162497 A G exonic IFIT1 synonymous SNV IFIT1:NM_001548:exon2:c.A465G:p.K155K,IFIT1:NM_001270927:exon3:c.A465G:p.K155K,IFIT1:NM_001270928:exon3:c.A372G:p.K124K,IFIT1:NM_001270929:exon3:c.A372G:p.K124K,IFIT1:NM_001270930:exon3:c.A372G:p.K124K 0.98 1. 0.95 1. 0.94 0.98 0.9606 0.9912 0.9751 0.9999 0.9323 0.9452 0.9626 0.9843 0.96 0.99 0.94 1. 0.98 rs303211 COSM1127983 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9602 0.9920 0.9715 0.9459 0.9999 0.9320 0.9468 0.9544 0.9847 0.9642 0.9904 0.9714 0.9404 1 0.9281 0.9545 0.9511 hom 4962.47 155 10 91162497 . A G 4962.47 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=32.02;VQSLOD=9.9097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4962,382,0 10 91162677 91162677 C T exonic IFIT1 synonymous SNV IFIT1:NM_001548:exon2:c.C645T:p.D215D,IFIT1:NM_001270927:exon3:c.C645T:p.D215D,IFIT1:NM_001270928:exon3:c.C552T:p.D184D,IFIT1:NM_001270929:exon3:c.C552T:p.D184D,IFIT1:NM_001270930:exon3:c.C552T:p.D184D 0.24 0.032 0.25 0.44 0.21 0.36 0.2350 0.0562 0.3021 0.4571 0.2078 0.1959 0.2379 0.3529 0.15 0.058 0.19 0.15 0.2 rs303210 COSM3998129 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2402 0.0513 0.2957 0.2308 0.4611 0.2120 0.1913 0.2246 0.3528 0.1720 0.0532 0.2721 0.2119 0.4802 0.2176 0.1894 0.1945 het 3150.52 250 10 91162677 . C T 3150.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.511;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9201;MQ=58.75;MQ0=0;MQRankSum=0.326;QD=12.60;ReadPosRankSum=-2.718;VQSLOD=4.8697;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:131,119:250:99:3181,0,3863 10 91178000 91178000 C T exonic IFIT5 synonymous SNV IFIT5:NM_012420:exon2:c.C1044T:p.Y348Y 0.65 0.72 0.5 0.86 0.54 0.57 0.5654 0.6942 0.5378 0.8656 0.5141 0.5135 0.5848 0.5755 0.57 0.69 0.51 0.62 0.52 rs304448 COSM5425485 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5607 0.6954 0.5362 0.6030 0.8651 0.5100 0.5041 0.5607 0.5784 0.5740 0.6927 0.5541 0.6192 0.8724 0.5080 0.4923 0.5112 hom 2932.35 86 10 91178000 . C T 2932.35 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.46;MQ0=0;QD=34.10;VQSLOD=9.7853;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2965,241,0 10 91352966 91352966 G A exonic PANK1 synonymous SNV PANK1:NM_138316:exon4:c.C747T:p.C249C,PANK1:NM_148977:exon5:c.C1599T:p.C533C,PANK1:NM_148978:exon5:c.C924T:p.C308C 0.7 0.71 0.63 0.94 0.56 0.64 0.6181 0.7010 0.7193 0.9358 0.5770 0.5470 0.5881 0.6335 0.59 0.69 0.55 0.75 0.56 rs2296616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6178 0.7032 0.7061 0.5545 0.9354 0.5621 0.5434 0.5952 0.6341 0.6219 0.7038 0.6818 0.5464 0.9339 0.5645 0.5540 0.5920 hom 5940.56 201 10 91352966 . G A 5940.56 Mask AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4939;MQ=59.02;MQ0=0;QD=29.56;VQSLOD=8.6605;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,201:201:99:5940,469,0 10 91405044 91405044 C T exonic PANK1 nonsynonymous SNV PANK1:NM_148977:exon1:c.G16A:p.G6S 0.047 0.097 0.019 0.0069 0.026 0.062 0.0351 0.0755 0.0214 0.0023 0.0221 0.0301 0.0458 0.0648 0.037 0.056 0.029 0.065 0.049 rs61853459 COSM5617941 1(breast) . . . . . . . . . . . 0.08 0.335 T 0.572 0.367 P 0.047 0.234 B 0.679 0.103 N 0.991 0.241 N 0.46 0.130 N -6.39 0.997 D -0.15 0.093 N 0.124 0.140 0.230 0.864 D 0.232 0.598 T . . . 4.208 0.564 23.9 0.996 0.750 0.460 0.274 N c -0.745 -0.635 1.000 0.747 0.025 0.001 3 2.02 0.255 0.001 0.128 0.006 0.137 0.198 0.241 0.990 0.544 6.126 0.193 . . . 0.0334 0.0723 0.0218 0.0430 0.0026 0.0191 0.0299 0.0313 0.0656 0.0409 0.0751 0.0263 0.0464 0.0006 0.0201 0.0312 0.0370 het 547.86 67 10 91405044 . C T 547.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.165;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6655;MQ=59.72;MQ0=0;MQRankSum=-0.451;QD=8.18;ReadPosRankSum=-0.190;VQSLOD=5.2295;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,24:67:99:578,0,1095 10 91468925 91468925 C G exonic KIF20B nonsynonymous SNV KIF20B:NM_001284259:exon3:c.C149G:p.A50G,KIF20B:NM_016195:exon3:c.C149G:p.A50G 0.21 0.049 0.21 0.36 0.24 0.23 0.2204 0.0713 0.2380 0.3355 0.3146 0.2105 0.2360 0.2378 0.16 0.073 0.2 0.12 0.082 rs1129777 COSM3752032;COSM3752031 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.14 0.256 T 0.918 0.488 P 0.504 0.459 P 0.658 0.060 N 0.780 0.293 P 1.445 0.365 L -0.29 0.677 T -0.81 0.223 N 0.014 0.103 -1.067 0.101 T 0.000 0.000 T . . . 0.816 0.172 9.565 0.991 0.520 0.496 0.282 N c -0.523 -0.505 1.000 0.500 0.732 0.924 0 -3.67 0.042 0.024 0.133 -0.007 0.133 0.972 0.342 0.985 0.512 0.439 0.004 P-loop containing nucleoside triphosphate hydrolase ENSG00000240996.1|ENSG00000240996.1 Cells_EBV-transformed_lymphocytes|Nerve_Tibial 0.2227 0.0718 0.2282 0.1972 0.3339 0.3068 0.2083 0.2265 0.2286 0.1971 0.0686 0.2237 0.1633 0.3383 0.3137 0.2276 0.2172 het 814.05 98 10 91468925 . C G 814.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.631;DP=98;Dels=0.00;FS=9.696;HRun=2;HaplotypeScore=3.9535;MQ=59.00;MQ0=0;MQRankSum=0.929;QD=8.31;ReadPosRankSum=-0.578;VQSLOD=3.7964;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,34:98:99:844,0,1549 10 91487649 91487649 A T exonic KIF20B nonsynonymous SNV KIF20B:NM_001284259:exon17:c.A2267T:p.N756I,KIF20B:NM_016195:exon17:c.A2147T:p.N716I 0.21 0.049 0.21 0.36 0.24 0.23 0.2320 0.0744 0.2468 0.3417 0.3213 0.2249 0.2494 0.2463 0.16 0.072 0.2 0.12 0.041 rs12572012 COSM3752039;COSM3752038 5(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.044 0.413 D 0.996 0.670 D 0.731 0.535 P 0.052 0.229 N 0.997 0.228 P 2.005 0.547 M 2.25 0.178 T -1.88 0.439 N 0.05 0.198 -0.924 0.451 T 0.000 0.000 T . . . 1.493 0.242 13.27 0.980 0.367 0.634 0.318 D c -0.323 -0.317 0.072 0.156 0.651 0.465 0 1.09 0.194 0.336 0.194 0.119 0.209 0.999 0.424 0.940 0.414 2.577 0.045 . ENSG00000240996.1|ENSG00000240996.1 Cells_EBV-transformed_lymphocytes|Nerve_Tibial 0.2176 0.0701 0.2144 0.1925 0.3257 0.3054 0.2053 0.2202 0.2237 0.1970 0.0686 0.2231 0.1623 0.3387 0.3138 0.2272 0.2182 het 673.41 69 10 91487649 . A T 673.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.563;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.46;MQ0=0;MQRankSum=-1.846;QD=9.76;ReadPosRankSum=-2.003;VQSLOD=4.2304;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:703,0,899 10 91488979 91488979 A T exonic KIF20B nonsynonymous SNV KIF20B:NM_001284259:exon18:c.A2366T:p.H789L,KIF20B:NM_016195:exon18:c.A2246T:p.H749L 0.21 0.049 0.21 0.36 0.24 0.23 0.2231 0.0726 0.2403 0.3387 0.3175 0.2129 0.2358 0.2391 0.16 0.071 0.2 0.11 0.098 rs3758388 COSM3752041;COSM3752040 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.569 0.073 T 0.041 0.223 B 0.017 0.218 B 0.772 0.066 N 1 0.090 P 1.59 0.404 L -0.18 0.672 T -1.31 0.328 N 0.102 0.134 -1.018 0.244 T 0.000 0.000 T . . . -0.097 0.085 1.754 0.590 0.060 0.054 0.111 N c -1.109 -1.197 0.069 0.155 0.707 0.730 0 0.696 0.172 0.856 0.273 -0.119 0.114 0.059 0.215 0.001 0.043 6.018 0.187 . ENSG00000240996.1|ENSG00000240996.1 Cells_EBV-transformed_lymphocytes|Nerve_Tibial 0.2187 0.0689 0.2195 0.1957 0.3216 0.3063 0.2055 0.2241 0.2273 0.1971 0.0683 0.2237 0.1623 0.3414 0.3130 0.2274 0.2200 het 1310.38 102 10 91488979 . A T 1310.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.428;DP=102;Dels=0.00;FS=3.817;HRun=1;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;MQRankSum=-0.167;QD=12.85;ReadPosRankSum=-1.131;VQSLOD=5.1571;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,51:102:99:1340,0,1155 10 91498127 91498127 T C exonic KIF20B nonsynonymous SNV KIF20B:NM_001284259:exon20:c.T3529C:p.C1177R,KIF20B:NM_016195:exon20:c.T3409C:p.C1137R 0.86 0.85 0.8 0.94 0.73 0.95 0.7934 0.8415 0.8693 0.9252 0.7889 0.7215 0.7958 0.9328 0.76 0.84 0.71 0.84 0.73 rs1886996 COSM5654168;COSM5654167 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.179 0.220 T 0.0 0.026 B 0.0 0.040 B 0.862 0.089 N 1 0.090 P 2.215 0.627 M -0.27 0.676 T -1.0 0.264 N 0.009 0.002 -0.949 0.411 T 0.000 0.000 T . . . -1.389 0.020 0.003 0.315 0.018 0.060 0.118 N c -1.314 -1.320 1.000 0.454 0.757 0.989 0 0.459 0.158 0.542 0.228 -0.296 0.082 0.337 0.254 0.168 0.210 3.875 0.085 . ENSG00000235100.3 Pituitary 0.7924 0.8421 0.8550 0.7164 0.9224 0.7908 0.7190 0.7596 0.9298 0.7869 0.8441 0.8353 0.7267 0.9158 0.7963 0.7348 0.8029 hom 1405.05 47 10 91498127 . T C 1405.05 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=29.89;VQSLOD=8.6360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1438,120,0 10 93841227 93841227 A G exonic CPEB3 synonymous SNV CPEB3:NM_001178137:exon9:c.T1677C:p.Y559Y,CPEB3:NM_014912:exon9:c.T1719C:p.Y573Y 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1.0000 1 1 . . . 1. 1. rs2676811 COSM4595195;COSM4595196 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1.0000 1 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 hom 3692.74 126 10 93841227 . A G 3692.74 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5602;MQ=59.10;MQ0=0;QD=29.31;VQSLOD=7.7929;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3692,286,0 10 93999850 93999850 A G exonic CPEB3 synonymous SNV CPEB3:NM_001178137:exon2:c.T258C:p.P86P,CPEB3:NM_014912:exon2:c.T258C:p.P86P 0.66 0.95 0.74 0.5 0.62 0.41 0.6266 0.8995 0.7327 0.5831 0.5486 0.6276 0.6476 0.4771 0.71 0.9 0.61 0.27 0.19 rs3824734 COSM3749122;COSM3749121 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5915 0.9006 0.7024 0.6535 0.5413 0.4772 0.5873 0.6294 0.4406 0.6613 0.8966 0.7127 0.6424 0.5447 0.4788 0.5834 0.5637 het 119.49 18 10 93999850 . A G 119.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.047;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.6651;MQ=58.71;MQ0=0;MQRankSum=-1.171;QD=6.64;ReadPosRankSum=-1.920;VQSLOD=4.6029;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:149,0,270 10 94594565 94594565 G A exonic EXOC6 nonsynonymous SNV EXOC6:NM_001013848:exon2:c.G70A:p.V24I,EXOC6:NM_001319194:exon2:c.G133A:p.V45I 0.57 0.72 0.72 0.25 0.7 0.47 0.6602 0.7163 0.7523 0.2540 0.7287 0.7141 0.6509 0.5282 0.71 0.72 0.71 0.67 0.62 rs2490741 COSM4382820;COSM146994 1(stomach);2(large_intestine) . . . . . . . . . . . 0.944 0.022 T 0.0 0.026 B 0.0 0.040 B . . . 0.997 0.226 P . . . 2.05 0.207 T 0.04 0.065 N 0.031 0.012 -1.036 0.184 T 0.000 0.000 T . . . -0.294 0.069 0.684 0.845 0.148 0.107 0.160 N c -1.053 -0.893 1.000 0.480 0.497 0.185 0 1.83 0.242 0.437 0.211 -0.514 0.050 0.959 0.333 0.978 0.483 5.461 0.158 . . . 0.6622 0.7186 0.7482 0.6640 0.2431 0.7236 0.7168 0.6698 0.5306 0.6952 0.7118 0.7254 0.6821 0.2357 0.7352 0.7248 0.6843 hom 2750.03 97 10 94594565 . G A 2750.03 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.00;MQ0=0;QD=28.35;VQSLOD=7.9320;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2783,217,0 10 94695617 94695617 C T exonic EXOC6 nonsynonymous SNV EXOC6:NM_001319195:exon12:c.C1187T:p.T396I,EXOC6:NM_019053:exon12:c.C1187T:p.T396I,EXOC6:NM_001013848:exon13:c.C1172T:p.T391I,EXOC6:NM_001319194:exon13:c.C1235T:p.T412I 0.89 0.99 0.85 1. 0.68 0.88 0.7725 0.9479 0.8871 0.9972 0.6261 0.6944 0.7709 0.8386 0.77 0.94 0.69 0.84 0.7 rs1326331 COSM3752055;COSM3752054;COSM3752056 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.810 P -3.12 0.000 N 2.44 0.152 T 4.06 0.001 N 0.129 0.285 -0.955 0.402 T 0.000 0.000 T . . . 1.805 0.278 15.02 0.150 0.004 0.053 0.111 N c -0.724 -0.381 0.990 0.321 0.732 0.924 0 5.75 0.904 6.287 0.725 0.119 0.209 1.000 0.715 0.995 0.604 11.866 0.516 . . . 0.7689 0.9493 0.8756 0.7389 0.9971 0.6322 0.6885 0.7573 0.8385 0.7691 0.9448 0.8544 0.7384 0.9963 0.6383 0.6715 0.7194 hom 1530.77 54 10 94695617 . C T 1530.77 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6809;MQ=60.00;MQ0=0;QD=28.35;VQSLOD=7.3732;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:54:99:1564,120,0 10 94822686 94822686 C T exonic CYP26C1 synonymous SNV CYP26C1:NM_183374:exon3:c.C639T:p.T213T 0.28 0.11 0.39 0.083 0.56 0.36 0.4687 0.1778 0.3547 0.0629 0.6003 0.5845 0.5082 0.4056 0.44 0.18 0.57 0.098 0.44 rs55843714 COSM3752057 1(haematopoietic_and_lymphoid_tissue);1(liver);2(thyroid);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4619 0.1642 0.3643 0.5053 0.0621 0.5940 0.5869 0.4954 0.4042 0.4409 0.1727 0.4043 0.4834 0.0549 0.6044 0.5967 0.5194 hom 2773.58 86 10 94822686 . C T 2773.58 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.73;MQ0=0;QD=32.25;VQSLOD=9.4275;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2807,223,0 10 95072906 95072906 T C exonic MYOF synonymous SNV MYOF:NM_133337:exon50:c.A5721G:p.R1907R,MYOF:NM_013451:exon51:c.A5760G:p.R1920R 0.84 0.79 0.78 0.91 0.85 0.89 0.8485 0.7945 0.7550 0.9125 0.8754 0.8574 0.8611 0.8653 0.84 0.8 0.85 0.83 0.75 rs787666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8456 0.7947 0.7670 0.8189 0.9139 0.8795 0.8559 0.8507 0.8636 0.8494 0.7985 0.8186 0.8245 0.9184 0.8798 0.866 0.8592 het 4694.84 247 10 95072906 . T C 4694.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.425;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3056;MQ=59.53;MQ0=0;MQRankSum=-0.428;QD=19.01;ReadPosRankSum=-0.726;VQSLOD=5.3639;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,134:247:99:4002,0,3100 10 95262981 95262981 A G exonic CEP55 nonsynonymous SNV CEP55:NM_001127182:exon3:c.A295G:p.T99A,CEP55:NM_018131:exon3:c.A295G:p.T99A 0.98 0.94 0.99 1. 1. 1. 0.9952 0.9491 0.9976 1 1 0.9997 0.9989 0.9999 0.98 0.95 1. 0.95 0.98 rs7080916 . . . . . . . . . . . . . 0.446 0.091 T 0.0 0.026 B 0.0 0.013 B 0.097 0.201 N 1 0.090 P -1.01 0.011 N 2.49 0.145 T 0.42 0.034 N 0.007 0.010 -1.041 0.171 T 0.000 0.000 T . . . -1.883 0.010 0.002 0.394 0.027 0.011 0.041 N c -1.585 -1.571 1.000 0.747 0.707 0.730 0 -3.01 0.051 -0.257 0.087 -2.249 0.004 0.000 0.063 0.000 0.016 5.847 0.178 . . . 0.9963 0.9493 0.9978 0.9999 1 1 0.9997 0.9960 0.9999 0.9853 0.9495 0.9976 1 1 1 0.9995 0.9939 hom 3644.86 119 10 95262981 . A G 3644.86 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.277;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6642;MQ=59.42;MQ0=0;MQRankSum=1.033;QD=30.63;ReadPosRankSum=1.470;VQSLOD=8.8331;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,118:119:99:3608,259,0 10 95279506 95279506 A T exonic CEP55 nonsynonymous SNV CEP55:NM_001127182:exon8:c.A1133T:p.H378L,CEP55:NM_018131:exon8:c.A1133T:p.H378L 0.56 0.26 0.71 0.54 0.75 0.68 0.7033 0.3124 0.7537 0.5675 0.7927 0.7672 0.7302 0.6900 0.61 0.33 0.76 0.52 0.7 rs2293277 COSM5008468 2(large_intestine) . . . . . . . . . . . 0.089 0.321 T 0.483 0.349 P 0.084 0.277 B 0.006 0.323 N 0.035 0.385 P 2.24 0.636 M 2.21 0.184 T -2.46 0.537 N 0.152 0.189 -1.097 0.044 T 0.000 0.000 T . . . 4.724 0.633 24.6 0.976 0.343 0.983 0.815 D c 0.232 0.366 1.000 0.747 0.707 0.730 0 5.79 0.917 6.127 0.712 1.199 0.960 1.000 0.715 0.875 0.366 14.690 0.685 . . . 0.7158 0.3139 0.7563 0.7604 0.5728 0.7975 0.7663 0.7324 0.6915 0.6369 0.3219 0.7494 0.7947 0.5774 0.8003 0.7715 0.7449 hom 2800.44 83 10 95279506 . A T 2800.44 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.74;VQSLOD=14.4210;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2833,217,0 10 95395364 95395364 C G exonic PDE6C synonymous SNV PDE6C:NM_006204:exon10:c.C1380G:p.T460T 0.24 0.11 0.32 0.37 0.29 0.15 0.2643 0.1330 0.3673 0.3515 0.2708 0.2766 0.2539 0.1775 0.23 0.13 0.28 0.18 0.23 rs3737228 . . Benign|Likely benign|Likely benign not_specified|Achromatopsia|Cone-Rod_Dystrophy\x2c_Recessive RCV000244014.1|RCV000278315.1|RCV000379751.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen CN169374|C0152200:ORPHA49382:56852002|CN239309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2740 0.1334 0.3688 0.3016 0.3486 0.2765 0.2775 0.2557 0.1784 0.2361 0.1330 0.3723 0.3245 0.3360 0.2805 0.2630 0.2751 het 1273.09 105 10 95395364 . C G 1273.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.759;DP=105;Dels=0.00;FS=4.797;HRun=0;HaplotypeScore=1.6642;MQ=58.62;MQ0=0;MQRankSum=-0.740;QD=12.12;ReadPosRankSum=-1.144;VQSLOD=4.8844;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,53:105:99:1303,0,1370 10 95441272 95441272 G A exonic FRA10AC1 nonsynonymous SNV FRA10AC1:NM_001347712:exon11:c.C752T:p.S251F,FRA10AC1:NM_001347714:exon11:c.C752T:p.S251F,FRA10AC1:NM_145246:exon11:c.C752T:p.S251F,FRA10AC1:NM_001347713:exon12:c.C752T:p.S251F,FRA10AC1:NM_001347715:exon12:c.C752T:p.S251F 0.082 0.093 0.097 0.034 0.12 0.067 0.0932 0.0878 0.0638 0.0378 0.0671 0.1114 0.0971 0.0833 0.1 0.087 0.11 0.054 0.074 rs11187583 . . . . . . . . . . . . . 0.009 0.574 D 0.91 0.483 P 0.424 0.434 B 0.002 0.377 N 0.953 0.264 P 2.475 0.721 M 1.81 0.252 T -2.85 0.600 D 0.135 0.274 -1.107 0.034 T 0.001 0.003 T . . . 6.232 0.860 28.8 0.995 0.682 0.929 0.566 D c 0.474 0.498 0.993 0.330 0.732 0.924 0 5.17 0.707 4.250 0.583 1.047 0.674 1.000 0.715 0.876 0.367 15.746 0.776 . ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.0909 0.0821 0.0635 0.1588 0.0362 0.0682 0.1073 0.0967 0.0801 0.0849 0.0860 0.0877 0.1623 0.0465 0.0743 0.0897 0.0765 het 554.11 47 10 95441272 . G A 554.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.990;DP=47;Dels=0.00;FS=1.139;HRun=2;HaplotypeScore=0.9332;MQ=59.20;MQ0=0;MQRankSum=-0.500;QD=11.79;ReadPosRankSum=0.968;VQSLOD=6.2594;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,23:47:99:584,0,608 10 95454681 95454681 G C exonic FRA10AC1 nonsynonymous SNV FRA10AC1:NM_001347712:exon5:c.C233G:p.T78R,FRA10AC1:NM_001347714:exon5:c.C233G:p.T78R,FRA10AC1:NM_145246:exon5:c.C233G:p.T78R,FRA10AC1:NM_001347713:exon6:c.C233G:p.T78R,FRA10AC1:NM_001347715:exon6:c.C233G:p.T78R 0.36 0.07 0.45 0.4 0.54 0.46 0.4728 0.1343 0.4740 0.4027 0.5576 0.5226 0.4912 0.4852 0.39 0.14 0.52 0.25 0.2 rs2275438 . . . . . . . . . . . . . 0.207 0.198 T 0.002 0.090 B 0.003 0.080 B 0.002 0.377 N 0.933 0.270 P -0.41 0.029 N 2.07 0.204 T 2.14 0.003 N 0.07 0.146 -0.947 0.415 T 0.000 0.000 T . . . 1.945 0.295 15.87 0.967 0.302 0.794 0.390 D c -0.560 -0.395 0.000 0.050 0.732 0.924 0 -0.297 0.121 2.115 0.413 0.953 0.551 1.000 0.715 0.991 0.552 8.588 0.326 . ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000138207.8|ENSG00000148690.10|ENSG00000148690.10|ENSG00000186188.6|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10|ENSG00000148690.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.4768 0.1327 0.4664 0.4835 0.3854 0.5524 0.5208 0.4934 0.4912 0.4084 0.1388 0.4501 0.47 0.3893 0.5490 0.5244 0.5154 het 1492.80 122 10 95454681 . G C 1492.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.337;DP=122;DS;Dels=0.00;FS=4.725;HRun=0;HaplotypeScore=1.6643;MQ=59.31;MQ0=0;MQRankSum=1.164;QD=12.24;ReadPosRankSum=-0.439;VQSLOD=5.8007;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,56:122:99:1523,0,1818 10 95458141 95458141 A G exonic FRA10AC1 synonymous SNV FRA10AC1:NM_001347712:exon3:c.T90C:p.D30D,FRA10AC1:NM_001347714:exon3:c.T90C:p.D30D,FRA10AC1:NM_145246:exon3:c.T90C:p.D30D,FRA10AC1:NM_001347713:exon4:c.T90C:p.D30D,FRA10AC1:NM_001347715:exon4:c.T90C:p.D30D 0.36 0.07 0.45 0.4 0.54 0.46 0.4729 0.1347 0.4740 0.4022 0.5575 0.5227 0.4923 0.4853 0.39 0.14 0.52 0.24 0.37 rs11187597 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4776 0.1334 0.4687 0.4837 0.3870 0.5531 0.5211 0.4940 0.4931 0.4076 0.1381 0.4460 0.4702 0.3864 0.5472 0.5238 0.5173 het 815.35 77 10 95458141 . A G 815.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.306;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8846;MQ=57.98;MQ0=0;MQRankSum=0.419;QD=10.59;ReadPosRankSum=0.262;VQSLOD=5.4087;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,34:77:99:845,0,1089 10 95459817 95459817 C T exonic FRA10AC1 nonsynonymous SNV FRA10AC1:NM_001347712:exon2:c.G47A:p.R16H,FRA10AC1:NM_001347714:exon2:c.G47A:p.R16H,FRA10AC1:NM_145246:exon2:c.G47A:p.R16H,FRA10AC1:NM_001347713:exon3:c.G47A:p.R16H,FRA10AC1:NM_001347715:exon3:c.G47A:p.R16H 0.62 0.47 0.67 0.69 0.75 0.6 0.6979 0.5032 0.6891 0.7216 0.7149 0.7403 0.7108 0.6341 0.66 0.51 0.74 0.58 0.66 rs726817 . . . . . . . . . . . . . 0.355 0.121 T 0.001 0.067 B 0.001 0.040 B 0.049 0.232 N 1 0.090 P -0.69 0.019 N 1.96 0.223 T 0.19 0.050 N 0.028 0.028 -1.027 0.215 T 0.000 0.000 T . . . 3.042 0.426 22.4 0.945 0.244 0.010 0.036 N c -0.854 -0.690 1.000 0.467 0.732 0.924 0 4.07 0.466 0.331 0.193 0.154 0.240 0.033 0.204 0.323 0.241 5.582 0.164 . ENSG00000148690.10|ENSG00000108231.7 Artery_Tibial|Nerve_Tibial 0.7012 0.4995 0.6890 0.8128 0.7133 0.7077 0.7360 0.7174 0.6377 0.6546 0.5021 0.6815 0.8212 0.7122 0.7061 0.7169 0.7051 hom 2428.44 86 10 95459817 . C T 2428.44 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=28.24;VQSLOD=8.1488;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2461,199,0 10 95552653 95552653 T C exonic LGI1 synonymous SNV LGI1:NM_001308276:exon4:c.T513C:p.F171F,LGI1:NM_001308275:exon6:c.T657C:p.F219F,LGI1:NM_005097:exon6:c.T657C:p.F219F 0.98 0.92 0.99 1. 1. 1. 0.9928 0.9332 0.9942 1 1 0.9984 0.9978 0.9999 0.98 0.94 1. 0.97 0.97 rs1111820 . . Likely benign Epilepsy\x2c_lateral_temporal_lobe\x2c_autosomal_dominant RCV000232651.2 MedGen:OMIM C1838062:600512 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9939 0.9309 0.9948 0.9887 1 1 0.9989 0.9947 1.0000 0.9798 0.9302 0.9964 1 1 0.9997 0.9995 0.9959 hom 4085.33 142 10 95552653 . T C 4085.33 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6253;MQ=57.82;MQ0=0;QD=28.77;VQSLOD=5.9261;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4084,346,0 10 95791613 95791613 T C exonic PLCE1 synonymous SNV PLCE1:NM_001288989:exon2:c.T810C:p.C270C,PLCE1:NM_016341:exon2:c.T810C:p.C270C 0.46 0.78 0.26 0.48 0.3 0.31 0.3197 0.7091 0.1941 0.4716 0.2958 0.2674 0.3044 0.3185 0.4 0.68 0.27 0.54 0.34 rs17109671 . . Benign|Benign not_specified|Nephrotic_syndrome RCV000247976.1|RCV000349724.1 MedGen|MedGen:SNOMED_CT CN169374|C0027726:52254009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3099 0.7174 0.2011 0.3024 0.4641 0.2934 0.2655 0.2776 0.3203 0.4010 0.7076 0.2093 0.2715 0.4593 0.2942 0.2599 0.3258 het 1284.65 121 10 95791613 . T C 1284.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.200;DP=121;Dels=0.00;FS=19.426;HRun=0;HaplotypeScore=0.7340;MQ=58.92;MQ0=0;MQRankSum=1.022;QD=10.62;ReadPosRankSum=-0.264;VQSLOD=2.6876;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,55:121:99:1315,0,1672 10 95791763 95791763 G A exonic PLCE1 synonymous SNV PLCE1:NM_001288989:exon2:c.G960A:p.E320E,PLCE1:NM_016341:exon2:c.G960A:p.E320E 0.38 0.54 0.22 0.44 0.29 0.3 0.2860 0.4810 0.1431 0.4365 0.2940 0.2561 0.2851 0.3094 0.32 0.46 0.25 0.42 0.27 rs17109674 . . Benign|Benign not_specified|Nephrotic_syndrome RCV000252737.1|RCV000300844.1 MedGen|MedGen:SNOMED_CT CN169374|C0027726:52254009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2778 0.4806 0.1515 0.2576 0.4290 0.2926 0.2557 0.2518 0.3101 0.3281 0.4769 0.1647 0.2148 0.4226 0.2937 0.2519 0.3122 het 578.85 69 10 95791763 . G A 578.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.679;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4538;MQ=59.33;MQ0=0;MQRankSum=1.193;QD=8.39;ReadPosRankSum=0.133;VQSLOD=6.3304;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,26:69:99:609,0,1252 10 96313960 96313960 A C exonic HELLS synonymous SNV HELLS:NM_001289067:exon3:c.A231C:p.I77I,HELLS:NM_001289068:exon3:c.A183C:p.I61I,HELLS:NM_001289069:exon3:c.A231C:p.I77I,HELLS:NM_001289070:exon3:c.A231C:p.I77I,HELLS:NM_001289072:exon3:c.A231C:p.I77I,HELLS:NM_018063:exon3:c.A231C:p.I77I 0.53 0.47 0.32 0.75 0.44 0.63 0.4695 0.4882 0.3545 0.7134 0.3662 0.4343 0.4306 0.5968 0.45 0.48 0.44 0.5 0.26 rs11188019 COSM3998140;COSM4414980;COSM3998141 2(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4561 0.4817 0.3462 0.423 0.7117 0.3643 0.4339 0.4359 0.5925 0.4551 0.4922 0.3768 0.4040 0.7149 0.3783 0.4295 0.4460 hom 3773.61 130 10 96313960 . A C 3773.61 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.18;MQ0=0;QD=29.03;VQSLOD=8.2915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3773,286,0 10 96493058 96493058 C T exonic CYP2C18 nonsynonymous SNV CYP2C18:NM_001128925:exon7:c.C977T:p.T326M,CYP2C18:NM_000772:exon8:c.C1154T:p.T385M 0.22 0.16 0.1 0.31 0.15 0.36 0.1837 0.1751 0.1003 0.3125 0.1803 0.1468 0.1670 0.3323 0.15 0.16 0.15 0.17 0.09 rs1126545 COSM3998143 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.019 0.524 D 0.872 0.899 P 0.218 0.717 B 0.000 0.629 N 0.998 0.226 P 3.625 0.941 H -0.8 0.739 T -5.1 0.838 D 0.057 0.041 -1.083 0.067 T 0.000 0.000 T . . . 3.405 0.467 23.0 0.972 0.324 0.838 0.426 D c -0.422 -0.625 0.000 0.012 0.487 0.133 0 0.102 0.138 4.348 0.589 0.065 0.171 0.998 0.411 0.018 0.130 7.916 0.288 . ENSG00000230338.1|ENSG00000165841.5|ENSG00000165841.5|ENSG00000165841.5 Esophagus_Mucosa|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.1784 0.1768 0.1026 0.1396 0.3095 0.1709 0.1466 0.1489 0.3270 0.1655 0.1773 0.1205 0.1589 0.3111 0.1786 0.1424 0.1724 het 1972.79 150 10 96493058 . C T 1972.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.459;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=0.575;QD=13.15;ReadPosRankSum=-0.421;VQSLOD=7.0609;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,75:150:99:2003,0,1920 10 96541616 96541616 G A exonic CYP2C19 synonymous SNV CYP2C19:NM_000769:exon5:c.G681A:p.P227P 0.22 0.17 0.11 0.31 0.15 0.36 0.1856 0.1810 0.1008 0.3103 0.1826 0.1477 0.1689 0.3399 0.15 0.17 0.15 0.16 0.066 rs4244285 COSM3998144 3(haematopoietic_and_lymphoid_tissue);7(soft_tissue) drug response|drug response|drug response|drug response|drug response|drug response|drug response|other Mephenytoin\x2c_poor_metabolism_of|Proguanil\x2c_poor_metabolism_of|Clopidogrel_response|amitriptyline_response_-_Efficacy|clopidogrel_response_-_Efficacy\x2c_Toxicity/ADR|citalopram_response_-_Efficacy|clomipramine_response_-_Efficacy|not_provided RCV000018393.24|RCV000018394.28|RCV000018395.25|RCV000211209.1|RCV000211298.1|RCV000211331.1|RCV000211423.1|RCV000352637.1 MedGen|MedGen|MedGen|MedGen|MedGen|MedGen|MedGen|MedGen C1836024|C1836026|C2674941|CN236467|CN236509|CN236503|CN236506|CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1759 0.1768 0.0983 0.1324 0.3076 0.1736 0.1473 0.1485 0.3245 0.1673 0.1792 0.1220 0.1556 0.3125 0.1816 0.1439 0.1728 het 410.01 35 10 96541616 . G A 410.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.109;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.46;MQ0=0;MQRankSum=-0.512;QD=11.71;ReadPosRankSum=1.469;VQSLOD=5.8610;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,18:35:99:440,0,393 10 96602623 96602623 G A exonic CYP2C19 nonsynonymous SNV CYP2C19:NM_000769:exon7:c.G991A:p.V331I 0.049 0.0023 0.035 0.04 0.069 0.11 0.0624 0.0122 0.0348 0.0397 0.0519 0.0664 0.0650 0.1135 0.047 0.014 0.065 0.033 0.049 rs3758581 COSM5019812 2(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0619 0.0120 0.0363 0.0828 0.0389 0.0566 0.0660 0.0589 0.1102 0.0457 0.0134 0.0442 0.0861 0.0284 0.0533 0.0633 0.0550 het 2771.70 250 10 96602623 . G A 2771.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.625;DP=250;DS;Dels=0.00;FS=5.388;HRun=0;HaplotypeScore=12.4330;MQ=59.30;MQ0=0;MQRankSum=0.062;QD=11.09;ReadPosRankSum=-0.099;VQSLOD=2.6398;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:143,107:250:99:2802,0,3936 10 96741053 96741053 A C exonic CYP2C9 nonsynonymous SNV CYP2C9:NM_000771:exon7:c.A1075C:p.I359L 0.049 0.0023 0.037 0.034 0.073 0.11 0.0637 0.0126 0.0358 0.0338 0.0563 0.0688 0.0661 0.1131 0.048 0.014 0.066 0.022 0.049 rs1057910 . . drug response|drug response\x2cdrug response|drug response|drug response|drug response|drug response|drug response|drug response|drug response|drug response|drug response|drug response|other Warfarin_response|Warfarin_response\x2cTolbutamide_response|Warfarin_response|Phenytoin_response|Glipizide_poor_metabolizer|Warfarin_response|diclofenac_response_-_Toxicity/ADR|celecoxib_response_-_Dosage|Antiinflammatory_agents\x2c_non-steroids_response_-_Toxicity/ADR|celecoxib_response_-_Toxicity/ADR|warfarin_response_-_Dosage\x2c_Toxicity/ADR|acenocoumarol_response_-_Dosage\x2c_Toxicity/ADR|not_provided RCV000150377.1|RCV000154312.1\x2cRCV000008916.1|RCV000008917.2|RCV000008918.2|RCV000008919.3|RCV000150378.1|RCV000211161.1|RCV000211164.1|RCV000211251.1|RCV000211339.1|RCV000211342.1|RCV000211403.1|RCV000339502.1 MedGen:OMIM|MedGen:OMIM\x2cMedGen|MedGen:OMIM|MedGen|MedGen|MedGen:OMIM|MedGen|MedGen|MedGen|MedGen|MedGen|MedGen|MedGen CN078029:122700|CN078029:122700\x2cC4016718|CN078029:122700|CN069167|C1832730|CN078029:122700|CN236524|CN236497|CN236461|CN236498|CN236547|CN236458|CN221809 . . . . . . 0.013 0.538 D 0.002 0.090 B 0.058 0.250 B 0.171 0.174 U 0.967 0.259 N 1.81 0.478 L -0.35 0.686 T -1.6 0.385 N 0.226 0.277 -0.915 0.462 T 0.022 0.092 T . . . 2.636 0.378 20.4 0.957 0.270 0.090 0.146 N c -0.735 -0.741 0.000 0.012 0.487 0.133 0 1.14 0.197 0.278 0.184 1.083 0.853 0.000 0.063 0.982 0.498 9.019 0.352 . ENSG00000173124.10|ENSG00000138109.9|ENSG00000173124.10|ENSG00000173124.10|ENSG00000173124.10|ENSG00000173124.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Esophagus_Muscularis|Nerve_Tibial 0.0636 0.0122 0.0379 0.0847 0.0343 0.0628 0.0686 0.0614 0.1096 0.0481 0.0130 0.0453 0.0861 0.0282 0.0608 0.0664 0.0583 het 4325.56 233 10 96741053 . A C 4325.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.104;DP=233;Dels=0.00;FS=3.685;HRun=1;HaplotypeScore=9.9064;MQ=58.71;MQ0=0;MQRankSum=0.057;QD=18.56;ReadPosRankSum=-0.584;VQSLOD=3.2369;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,127:233:99:3717,0,2767 10 96748737 96748737 A T exonic CYP2C9 synonymous SNV CYP2C9:NM_000771:exon9:c.A1425T:p.G475G 0.049 0.0045 0.037 0.033 0.073 0.11 0.0638 0.0135 0.0357 0.0338 0.0565 0.0688 0.0661 0.1131 0.049 0.015 0.066 0.022 0.049 rs1057911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0636 0.0131 0.0379 0.0846 0.0343 0.0629 0.0685 0.0615 0.1097 0.0483 0.0133 0.0453 0.0861 0.0281 0.0616 0.0665 0.0584 het 1933.35 168 10 96748737 . A T 1933.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.737;DP=168;Dels=0.00;FS=1.920;HRun=3;HaplotypeScore=2.8539;MQ=59.28;MQ0=0;MQRankSum=-0.404;QD=11.51;ReadPosRankSum=-0.153;VQSLOD=6.2274;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:89,79:168:99:1963,0,2353 10 97023630 97023630 T C exonic PDLIM1 nonsynonymous SNV PDLIM1:NM_020992:exon4:c.A524G:p.N175S 0.19 0.16 0.27 0.028 0.31 0.22 0.2570 0.1875 0.2693 0.0199 0.2671 0.2946 0.2779 0.2612 0.26 0.2 0.29 0.16 0.27 rs2296961 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.001 0.388 N 1 0.090 P -0.205 0.041 N 2.02 0.211 T -0.37 0.132 N 0.034 0.014 -0.907 0.472 T 0.000 0.000 T . . . -1.473 0.018 0.003 0.195 0.007 0.227 0.216 N c -0.977 -0.908 1.000 0.517 0.672 0.522 0 3.31 0.369 0.856 0.273 1.061 0.807 0.028 0.201 0.029 0.146 7.455 0.263 Domain of unknown function DUF4749 ENSG00000138115.9 Small_Intestine_Terminal_Ileum 0.2546 0.1865 0.2693 0.2499 0.0191 0.2691 0.3004 0.2714 0.2289 0.2536 0.1927 0.2871 0.2252 0.0173 0.2691 0.3082 0.2777 het 774.44 86 10 97023630 . T C 774.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.283;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5080;MQ=59.24;MQ0=0;MQRankSum=-2.419;QD=9.01;ReadPosRankSum=1.088;VQSLOD=4.1604;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,31:86:99:804,0,1348 10 97106165 97106165 T C exonic SORBS1 synonymous SNV SORBS1:NM_006434:exon15:c.A1377G:p.L459L,SORBS1:NM_001034957:exon16:c.A1545G:p.L515L,SORBS1:NM_001290295:exon19:c.A1572G:p.L524L,SORBS1:NM_001290297:exon19:c.A1758G:p.L586L,SORBS1:NM_015385:exon19:c.A1773G:p.L591L,SORBS1:NM_001290298:exon20:c.A1863G:p.L621L,SORBS1:NM_024991:exon20:c.A1668G:p.L556L,SORBS1:NM_001034956:exon21:c.A1980G:p.L660L,SORBS1:NM_001290296:exon22:c.A2337G:p.L779L,SORBS1:NM_001034954:exon24:c.A2427G:p.L809L,SORBS1:NM_001034955:exon24:c.A2493G:p.L831L,SORBS1:NM_001290294:exon24:c.A2289G:p.L763L 0.41 0.2 0.45 0.67 0.32 0.47 0.3555 0.2152 0.5225 0.6647 0.2938 0.2841 0.3551 0.4774 0.25 0.21 0.28 0.29 0.28 rs726176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3639 0.2128 0.5070 0.3584 0.6720 0.2985 0.2792 0.3353 0.4752 0.2846 0.2036 0.4928 0.3967 0.6572 0.3029 0.2707 0.3276 hom 2370.81 83 10 97106165 . T C 2370.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.690;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7074;MQ=59.39;MQ0=0;MQRankSum=0.634;QD=28.56;ReadPosRankSum=-0.253;VQSLOD=8.2925;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,82:83:99:2404,181,0 10 97192324 97192324 A G exonic SORBS1 nonsynonymous SNV SORBS1:NM_001034957:exon3:c.T86C:p.L29P,SORBS1:NM_001290297:exon3:c.T86C:p.L29P,SORBS1:NM_006434:exon3:c.T86C:p.L29P,SORBS1:NM_001034954:exon4:c.T182C:p.L61P,SORBS1:NM_001034955:exon4:c.T182C:p.L61P,SORBS1:NM_001034956:exon4:c.T182C:p.L61P,SORBS1:NM_001290296:exon4:c.T182C:p.L61P,SORBS1:NM_001290298:exon4:c.T182C:p.L61P,SORBS1:NM_001290295:exon5:c.T86C:p.L29P,SORBS1:NM_015385:exon5:c.T86C:p.L29P,SORBS1:NM_001290294:exon6:c.T182C:p.L61P,SORBS1:NM_024991:exon6:c.T182C:p.L61P 0.98 0.93 1. 1. 1. 1. 0.9937 0.9368 0.9948 1 1 0.9994 0.9967 1 0.98 0.94 1. 0.94 1. rs943542 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.063 B 0.002 0.368 N 0.289 0.441 P -1.1 0.010 N 3.98 0.049 T 5.89 0.000 N 0.063 0.384 -0.946 0.417 T 0.000 0.000 T . . . 1.855 0.284 15.32 0.309 0.017 0.032 0.082 N c -0.606 -0.295 1.000 0.747 0.706 0.609 0 5.75 0.904 4.664 0.610 0.076 0.183 1.000 0.715 0.996 0.625 12.445 0.548 . . . 0.9951 0.9370 0.9958 1 1 1 0.9994 0.9963 0.9999 0.9821 0.9379 0.9940 1 1 1 0.9999 0.9949 hom 3211.54 100 10 97192324 . A G 3211.54 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.12;VQSLOD=9.4380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3245,253,0 10 97599537 97599537 G C exonic ENTPD1 synonymous SNV ENTPD1:NM_001098175:exon3:c.G255C:p.V85V,ENTPD1:NM_001164178:exon3:c.G270C:p.V90V,ENTPD1:NM_001164179:exon3:c.G234C:p.V78V,ENTPD1:NM_001320916:exon3:c.G270C:p.V90V,ENTPD1:NM_001776:exon3:c.G234C:p.V78V 0.052 0.023 0.066 0.041 0.06 0.084 0.0596 0.0324 0.0728 0.0345 0.0686 0.0585 0.0661 0.0813 0.054 0.035 0.064 0.022 0.033 rs61731067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0594 0.0328 0.0671 0.0176 0.0342 0.0709 0.0606 0.0549 0.0796 0.0546 0.0326 0.0704 0.0298 0.0365 0.0690 0.0644 0.0733 het 2130.20 160 10 97599537 . G C 2130.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.371;DP=160;Dels=0.00;FS=13.892;HRun=1;HaplotypeScore=2.9922;MQ=58.66;MQ0=0;MQRankSum=-0.330;QD=13.31;ReadPosRankSum=-0.098;VQSLOD=3.2887;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,74:160:99:2160,0,2502 10 97916272 97916272 C T exonic ZNF518A unknown UNKNOWN 0.0002 . . . 0.001 . 0.0005 0.0003 0.0013 0 0 0.0006 0.0011 0 0.0007 . 0.001 . . rs200299587 . . . . . . . . . . . . . . . . 0.799 0.429 P 0.226 0.363 B . . . . . . 2.48 0.723 M . . . . . . 0.431 0.487 . . . . . . . . . 0.722 0.163 8.970 0.571 0.056 0.934 0.578 D n 1.349 0.052 0.022 0.134 0.156 0.027 0 3.79 0.426 2.350 0.435 0.000 0.135 1.000 0.715 0.916 0.392 10.532 0.440 . . . 0.0006 0.0003 0.0020 0 0 0 0.0007 0.0007 0 0.0004 0.0002 0.0012 0 0 0 0.0004 0.0031 het 341.22 43 10 97916272 . C T 341.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.402;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;MQRankSum=-0.166;QD=7.94;ReadPosRankSum=-1.083;VQSLOD=4.1804;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,15:43:99:371,0,818 10 97917556 97917556 G C exonic ZNF518A unknown UNKNOWN 0.0006 . . . 0.002 0.001 0.0029 0.0006 0.0010 0 0.0061 0.0039 0.0011 0.0022 0.0027 0.0011 0.0034 . . rs41291602 . . . . . . . . . . . . . . . . 0.935 0.503 P 0.71 0.527 P . . . . . . 2.135 0.597 M . . . . . . 0.382 0.442 . . . . . . . . . -0.507 0.055 0.211 0.663 0.078 0.960 0.667 D n 1.241 0.017 0.077 0.158 0.295 0.044 0 5.67 0.876 2.851 0.478 1.048 0.713 1.000 0.715 0.978 0.483 10.727 0.451 . . . 0.0030 0.0005 0.0010 0 5.798e-05 0.0071 0.0042 0.0018 0.0022 0.0033 0.0010 0.0024 0 0 0.0074 0.0041 0.0031 het 1371.31 118 10 97917556 . G C 1371.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.842;DP=118;Dels=0.00;FS=3.404;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=-0.797;QD=11.62;ReadPosRankSum=-0.019;VQSLOD=5.8699;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,54:118:99:1401,0,1777 10 97920099 97920099 - C exonic ZNF518A unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 0.065 . rs67530050 COSM4602887;COSM4602886 23(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3139.79 72 10 97920099 . T TC 3139.79 Mask AC=2;AF=1.00;AN=2;DP=72;FS=0.000;HRun=1;HaplotypeScore=157.7742;MQ=58.86;MQ0=0;QD=43.61;set=variant2 GT:AD:DP:GQ:PL 1/1:2,70:72:99:3182,214,0 10 97990583 97990583 A G exonic BLNK synonymous SNV BLNK:NM_001114094:exon4:c.T171C:p.P57P,BLNK:NM_001258440:exon4:c.T171C:p.P57P,BLNK:NM_001258441:exon4:c.T171C:p.P57P,BLNK:NM_001258442:exon4:c.T171C:p.P57P,BLNK:NM_013314:exon4:c.T171C:p.P57P 0.46 0.16 0.66 0.45 0.71 0.49 0.6384 0.2467 0.7305 0.4828 0.7411 0.7164 0.6835 0.5206 0.56 0.24 0.72 0.39 0.7 rs727852 COSM147002;COSM5428110 1(stomach);1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455769.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6408 0.2218 0.7169 0.6800 0.4680 0.7379 0.7164 0.6641 0.4994 0.5767 0.2358 0.7141 0.6689 0.4601 0.7367 0.7365 0.6516 hom 814.30 31 10 97990583 . A G 814.30 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;QD=26.27;VQSLOD=6.7780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:31:66.20:847,66,0 10 98078127 98078127 C T exonic DNTT synonymous SNV DNTT:NM_001017520:exon2:c.C222T:p.I74I,DNTT:NM_004088:exon2:c.C222T:p.I74I 0.99 0.97 1. 1. 1. 1. 0.9976 0.9735 0.9991 1 1 1.0000 0.9978 1 0.99 0.97 1. 1. 0.79 rs7081385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9982 0.9737 0.9991 1 1 1 1.0000 0.9991 1.0000 0.9933 0.9769 1 1 1 1 0.9999 0.9959 hom 8227.98 248 10 98078127 . C T 8227.98 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8332;MQ=59.58;MQ0=0;QD=33.18;VQSLOD=9.1639;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8227,647,0 10 98078239 98078239 A G exonic DNTT nonsynonymous SNV DNTT:NM_001017520:exon2:c.A334G:p.R112G,DNTT:NM_004088:exon2:c.A334G:p.R112G 0.99 0.97 1. 1. 1. 1. 0.9976 0.9735 0.9991 1 1 1.0000 0.9978 1 0.99 0.97 1. 1. 1. rs6584066 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.416 0.129 N 1.000 0.186 P -0.37 0.031 N 0.88 0.460 T 1.15 0.012 N 0.041 0.034 -0.966 0.381 T 0.000 0.000 T . . . -0.808 0.040 0.041 0.098 0.001 0.058 0.116 N c -1.434 -1.343 0.998 0.359 0.447 0.083 0 -3.49 0.044 0.116 0.153 -1.076 0.019 0.989 0.365 0.781 0.330 13.862 0.629 BRCT domain . . 0.9982 0.9737 0.9991 1 1 1 1.0000 0.9991 1.0000 0.9933 0.9769 1 1 1 1 0.9999 0.9959 hom 7433.09 222 10 98078239 . A G 7433.09 Mask AC=2;AF=1.00;AN=2;DP=222;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6828;MQ=59.06;MQ0=0;QD=33.48;VQSLOD=10.0421;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:7432,578,0 10 98380277 98380277 C T exonic PIK3AP1 synonymous SNV PIK3AP1:NM_152309:exon12:c.G1773A:p.S591S 0.57 0.32 0.51 0.82 0.6 0.68 0.6205 0.3475 0.5184 0.8276 0.6636 0.6332 0.6308 0.6847 0.53 0.35 0.62 0.49 0.61 rs3748234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6181 0.3382 0.5258 0.5942 0.8209 0.6603 0.6306 0.5873 0.6816 0.5582 0.3420 0.5408 0.5927 0.8026 0.6654 0.6287 0.6207 hom 3569.13 105 10 98380277 . C T 3569.13 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.29;MQ0=0;QD=33.99;VQSLOD=10.1029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3569,286,0 10 98386558 98386558 G A exonic PIK3AP1 synonymous SNV PIK3AP1:NM_152309:exon10:c.C1576T:p.L526L 0.89 0.71 0.95 1. 0.93 0.94 0.9252 0.7362 0.9672 0.9997 0.8787 0.9402 0.9262 0.9335 0.88 0.75 0.95 0.86 0.93 rs4344416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9302 0.7333 0.9639 0.9098 0.9997 0.8863 0.9466 0.9275 0.9318 0.8766 0.7399 0.9547 0.9139 1 0.8772 0.9361 0.8990 hom 4263.82 128 10 98386558 . G A 4263.82 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7803;MQ=59.09;MQ0=0;QD=33.31;VQSLOD=8.8455;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4263,337,0 10 98411293 98411293 G A exonic PIK3AP1 synonymous SNV PIK3AP1:NM_152309:exon5:c.C828T:p.A276A 0.015 0.003 0.03 . 0.043 0.0092 0.0262 0.0039 0.0172 0 0.0384 0.0385 0.0220 0.0059 0.025 0.0041 0.036 0.011 0.033 rs35668691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0258 0.0034 0.0193 0.0302 0 0.0380 0.0373 0.0305 0.0058 0.0252 0.0057 0.0179 0.0331 0 0.0432 0.0349 0.0305 het 1387.90 143 10 98411293 . G A 1387.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.981;DP=143;Dels=0.00;FS=5.255;HRun=0;HaplotypeScore=2.9983;MQ=58.32;MQ0=0;MQRankSum=0.583;QD=9.71;ReadPosRankSum=0.402;VQSLOD=4.7697;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,57:143:99:1418,0,2214 10 98469693 98469693 C T exonic PIK3AP1 nonsynonymous SNV PIK3AP1:NM_152309:exon2:c.G61A:p.E21K 0.13 0.016 0.1 0.23 0.18 0.13 0.1584 0.0387 0.0873 0.2455 0.1742 0.1773 0.1698 0.1501 0.13 0.045 0.17 0.087 0.21 rs17112076 COSM428224 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.32 0.135 T 0.0 0.026 B 0.001 0.040 B 0.875 0.088 N 1 0.090 P 0.69 0.170 N 2.03 0.210 T -1.95 0.452 N 0.09 0.088 -0.940 0.426 T 0.000 0.000 T . . . 0.638 0.155 8.417 0.952 0.259 0.024 0.066 N c -1.167 -1.166 1.000 0.747 0.722 0.854 0 -1.72 0.076 -1.402 0.026 -0.539 0.048 0.000 0.063 0.732 0.317 5.778 0.174 . . . 0.1559 0.0343 0.0955 0.1536 0.2465 0.1758 0.1776 0.1620 0.1372 0.1321 0.0367 0.1253 0.1788 0.2531 0.1669 0.1646 0.1544 het 1378.54 115 10 98469693 . C T 1378.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.875;DP=115;Dels=0.00;FS=3.441;HRun=1;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;MQRankSum=-0.541;QD=11.99;ReadPosRankSum=-0.569;VQSLOD=6.4049;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,54:115:99:1409,0,1625 10 98808866 98808866 C G exonic SLIT1 synonymous SNV SLIT1:NM_003061:exon14:c.G1311C:p.A437A 0.96 0.85 0.99 1. 1. 1. 0.9880 0.8793 0.9933 1 1 0.9984 0.9890 0.9998 0.96 0.88 1. 0.95 0.97 rs2805588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9902 0.8779 0.9926 0.9914 1 1.0000 0.9986 0.9914 0.9998 0.9648 0.8782 0.9881 0.9934 1 1 0.9990 0.9990 hom 2417.66 76 10 98808866 . C G 2417.66 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.16;MQ0=0;QD=31.81;VQSLOD=8.0608;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2451,193,0 10 98820528 98820528 C G exonic SLIT1 synonymous SNV SLIT1:NM_003061:exon9:c.G810C:p.G270G 0.097 0.13 0.099 0.002 0.17 0.072 0.1442 0.1538 0.0932 0.0011 0.1703 0.1744 0.1303 0.1080 0.14 0.12 0.14 0.054 0.12 rs33970910 COSM4785966;COSM3752069;COSM3752070 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1128 0.1254 0.0680 0.1445 0.0006 0.1232 0.1470 0.1257 0.0805 0.1204 0.1156 0.0813 0.0993 0.0018 0.1265 0.1366 0.1296 het 461.02 36 10 98820528 . C G 461.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.175;DP=36;Dels=0.00;FS=3.274;HRun=1;HaplotypeScore=0.9789;MQ=59.36;MQ0=0;MQRankSum=0.875;QD=12.81;ReadPosRankSum=0.111;VQSLOD=5.9683;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,16:36:99:491,0,559 10 99019177 99019177 A G exonic ARHGAP19 synonymous SNV ARHGAP19:NM_001204300:exon5:c.T822C:p.H274H,ARHGAP19:NM_001256423:exon5:c.T795C:p.H265H,ARHGAP19:NM_032900:exon5:c.T822C:p.H274H 0.84 0.74 0.93 0.81 0.97 0.83 0.9203 0.7587 0.9065 0.8511 0.9519 0.9695 0.9438 0.8556 0.9 0.76 0.97 0.84 0.93 rs2253301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9243 0.7585 0.9138 0.9571 0.8551 0.9499 0.9711 0.9378 0.8554 0.9015 0.7530 0.9260 0.9503 0.8705 0.9528 0.9735 0.9521 het 2321.33 217 10 99019177 . A G 2321.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.691;DP=217;Dels=0.00;FS=2.543;HRun=0;HaplotypeScore=3.7219;MQ=59.07;MQ0=1;MQRankSum=-1.304;QD=10.70;ReadPosRankSum=-1.122;VQSLOD=5.2013;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:118,98:217:99:2351,0,3225 10 99126513 99126513 C T exonic RRP12 synonymous SNV RRP12:NM_001284337:exon24:c.G2901A:p.Q967Q,RRP12:NM_001145114:exon25:c.G3018A:p.Q1006Q,RRP12:NM_015179:exon27:c.G3201A:p.Q1067Q 0.026 0.0038 0.055 . 0.072 0.013 0.0441 0.0120 0.0465 0.0008 0.0618 0.0582 0.0561 0.0199 0.043 0.013 0.058 0.011 0.066 rs45527941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0441 0.0114 0.0432 0.0193 0.0012 0.0600 0.0613 0.0469 0.0193 0.0432 0.0115 0.0442 0.0232 0.0012 0.0641 0.0605 0.0635 het 3201.40 195 10 99126513 . C T 3201.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.838;DP=195;Dels=0.00;FS=0.643;HRun=1;HaplotypeScore=12.1396;MQ=58.95;MQ0=0;MQRankSum=-0.385;QD=16.42;ReadPosRankSum=-0.895;VQSLOD=2.5220;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,106:195:99:3231,0,2468 10 99129230 99129230 T C exonic RRP12 synonymous SNV RRP12:NM_001284337:exon22:c.A2607G:p.A869A,RRP12:NM_001145114:exon23:c.A2724G:p.A908A,RRP12:NM_015179:exon25:c.A2907G:p.A969A 0.15 0.22 0.13 0.15 0.12 0.1 0.1533 0.2307 0.1664 0.1823 0.1510 0.1389 0.1334 0.1403 0.15 0.2 0.13 0.2 0.13 rs6584122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1283 0.1993 0.1302 0.0821 0.1650 0.1080 0.1228 0.1197 0.1213 0.1474 0.2042 0.1184 0.0861 0.1786 0.1117 0.1228 0.1367 het 570.18 52 10 99129230 . T C 570.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.304;DP=52;Dels=0.00;FS=1.143;HRun=1;HaplotypeScore=0.7340;MQ=59.16;MQ0=0;MQRankSum=-0.248;QD=10.96;ReadPosRankSum=0.468;VQSLOD=6.6971;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,24:52:99:600,0,741 10 99130282 99130282 T G exonic RRP12 synonymous SNV RRP12:NM_001284337:exon20:c.A2319C:p.A773A,RRP12:NM_001145114:exon21:c.A2436C:p.A812A,RRP12:NM_015179:exon23:c.A2619C:p.A873A 0.04 0.059 0.055 . 0.072 0.013 0.0488 0.0591 0.0488 0.0008 0.0619 0.0589 0.0563 0.0198 0.058 0.058 0.059 0.033 0.066 rs11189170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0460 0.0582 0.0430 0.0195 0.0011 0.0582 0.0596 0.0478 0.0186 0.0584 0.0623 0.0472 0.0345 0.0013 0.0642 0.0614 0.0694 het 1003.23 105 10 99130282 . T G 1003.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.085;DP=105;Dels=0.00;FS=2.618;HRun=1;HaplotypeScore=4.4286;MQ=59.20;MQ0=0;MQRankSum=-0.964;QD=9.55;ReadPosRankSum=1.077;VQSLOD=5.0343;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,42:105:99:1033,0,1698 10 99141205 99141205 A G exonic RRP12 synonymous SNV RRP12:NM_001284337:exon9:c.T1056C:p.A352A,RRP12:NM_001145114:exon10:c.T1173C:p.A391A,RRP12:NM_015179:exon12:c.T1356C:p.A452A 0.4 0.55 0.34 0.31 0.34 0.41 0.3431 0.5041 0.2903 0.2841 0.3747 0.3269 0.3818 0.3626 0.38 0.49 0.32 0.4 0.43 rs2275089 COSM3931177 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3352 0.5030 0.2945 0.3593 0.2933 0.3503 0.3207 0.3541 0.3500 0.3729 0.4925 0.2919 0.3742 0.2967 0.3578 0.3196 0.3735 het 545.43 37 10 99141205 . A G 545.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.452;DP=37;Dels=0.00;FS=5.346;HRun=1;HaplotypeScore=2.9927;MQ=57.96;MQ0=0;MQRankSum=1.288;QD=14.74;ReadPosRankSum=-2.338;VQSLOD=3.8388;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,24:37:99:575,0,352 10 99150237 99150237 G A exonic RRP12 synonymous SNV RRP12:NM_001145114:exon4:c.C513T:p.P171P,RRP12:NM_015179:exon6:c.C696T:p.P232P 0.04 0.06 0.053 . 0.072 0.013 0.0481 0.0582 0.0479 0.0008 0.0620 0.0584 0.0567 0.0193 0.058 0.058 0.058 0.033 0.066 rs41300219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0474 0.0583 0.0450 0.0195 0.0012 0.0599 0.0614 0.0477 0.0194 0.0568 0.0588 0.0480 0.0232 0.0012 0.0641 0.0605 0.0673 het 1424.68 89 10 99150237 . G A 1424.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.145;DP=89;Dels=0.00;FS=9.125;HRun=0;HaplotypeScore=2.5264;MQ=59.04;MQ0=0;MQRankSum=0.848;QD=16.01;ReadPosRankSum=-0.930;VQSLOD=4.1960;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,50:89:99:1455,0,1116 10 99155984 99155984 G A exonic RRP12 synonymous SNV RRP12:NM_001145114:exon3:c.C444T:p.F148F,RRP12:NM_001284337:exon3:c.C444T:p.F148F,RRP12:NM_015179:exon3:c.C444T:p.F148F 0.4 0.55 0.34 0.31 0.34 0.41 0.3393 0.4970 0.2882 0.2844 0.3602 0.3241 0.3739 0.3556 0.38 0.49 0.32 0.4 0.42 rs3814553 COSM3752071 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3378 0.5027 0.2978 0.3559 0.2958 0.3541 0.3237 0.3569 0.3530 0.3734 0.4922 0.2919 0.3725 0.2981 0.3584 0.3204 0.3747 het 1806.76 121 10 99155984 . G A 1806.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.651;DP=121;Dels=0.00;FS=0.698;HRun=2;HaplotypeScore=1.7356;MQ=59.31;MQ0=0;MQRankSum=-0.108;QD=14.93;ReadPosRankSum=1.310;VQSLOD=6.4365;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,70:121:99:1837,0,1201 10 99160152 99160152 A G exonic RRP12 synonymous SNV RRP12:NM_001145114:exon2:c.T279C:p.G93G,RRP12:NM_001284337:exon2:c.T279C:p.G93G,RRP12:NM_015179:exon2:c.T279C:p.G93G 0.4 0.54 0.34 0.31 0.34 0.41 0.3381 0.4989 0.2861 0.2845 0.3606 0.3222 0.3700 0.3545 0.38 0.5 0.32 0.4 0.42 rs1048442 COSM5505074 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3363 0.5041 0.2949 0.3544 0.2958 0.3542 0.3216 0.3527 0.3521 0.3731 0.4956 0.2854 0.3709 0.2976 0.3581 0.3191 0.3671 het 3979.39 238 10 99160152 . A G 3979.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.179;DP=238;DS;Dels=0.00;FS=2.216;HRun=0;HaplotypeScore=4.1766;MQ=59.16;MQ0=0;MQRankSum=-1.355;QD=16.72;ReadPosRankSum=-0.678;VQSLOD=4.9297;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:123,115:238:99:3337,0,3102 10 99160965 99160965 A G exonic RRP12 synonymous SNV RRP12:NM_001145114:exon1:c.T24C:p.P8P,RRP12:NM_001284337:exon1:c.T24C:p.P8P,RRP12:NM_015179:exon1:c.T24C:p.P8P 0.93 0.89 0.98 0.88 0.98 0.94 0.9601 0.8932 0.9819 0.8932 0.9578 0.9798 0.9681 0.9426 0.95 0.89 0.98 0.92 0.98 rs2275091 COSM5431637 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9624 0.8925 0.9821 0.9762 0.8961 0.9569 0.9811 0.9695 0.9431 0.9481 0.8863 0.9809 0.9669 0.9169 0.9593 0.9807 0.9765 het 2114.54 153 10 99160965 . A G 2114.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.098;DP=153;Dels=0.00;FS=1.280;HRun=2;HaplotypeScore=1.8653;MQ=58.83;MQ0=0;MQRankSum=-1.149;QD=13.82;ReadPosRankSum=-0.397;VQSLOD=6.0030;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,81:153:99:2145,0,1858 10 99205731 99205731 A G exonic EXOSC1 synonymous SNV EXOSC1:NM_001318362:exon1:c.T12C:p.P4P,EXOSC1:NM_001318363:exon1:c.T12C:p.P4P,EXOSC1:NM_001318364:exon1:c.T12C:p.P4P,EXOSC1:NM_016046:exon1:c.T12C:p.P4P 0.096 0.094 0.11 0.076 0.12 0.08 0.1145 0.1080 0.1126 0.0873 0.0891 0.1257 0.1057 0.0996 0.13 0.11 0.13 0.11 0.098 rs4919098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1134 0.1041 0.1138 0.0531 0.0862 0.0882 0.1329 0.1160 0.0994 0.1157 0.1032 0.1110 0.0695 0.0860 0.0899 0.1321 0.1347 het 1405.97 153 10 99205731 . A G 1405.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.157;DP=153;Dels=0.00;FS=3.944;HRun=2;HaplotypeScore=4.9818;MQ=59.01;MQ0=0;MQRankSum=0.722;QD=9.19;ReadPosRankSum=0.045;VQSLOD=4.7096;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,59:153:99:1436,0,2405 10 99219885 99219885 G A exonic MMS19 synonymous SNV MMS19:NM_001330128:exon24:c.C2280T:p.A760A,MMS19:NM_001289403:exon25:c.C2445T:p.A815A,MMS19:NM_001289404:exon25:c.C2097T:p.A699A,MMS19:NM_001351357:exon25:c.C2100T:p.A700A,MMS19:NM_001351358:exon25:c.C1482T:p.A494A,MMS19:NM_001351359:exon26:c.C1482T:p.A494A,MMS19:NM_022362:exon26:c.C2574T:p.A858A,MMS19:NM_001289405:exon27:c.C2574T:p.A858A,MMS19:NM_001351356:exon27:c.C2691T:p.A897A 0.53 0.42 0.55 0.59 0.52 0.6 0.5370 0.4245 0.4823 0.5785 0.5454 0.5458 0.5730 0.5837 0.5 0.42 0.54 0.41 . rs2152092 COSM3998166 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5387 0.4226 0.4940 0.5705 0.5799 0.5567 0.5436 0.5336 0.5820 0.5159 0.4120 0.4940 0.5861 0.5810 0.5547 0.5555 0.5855 het 1495.44 107 10 99219885 . G A 1495.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.735;DP=107;Dels=0.00;FS=12.930;HRun=0;HaplotypeScore=3.7767;MQ=58.76;MQ0=0;MQRankSum=0.278;QD=13.98;ReadPosRankSum=0.028;VQSLOD=4.2775;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,56:107:99:1525,0,1363 10 99240758 99240758 G C exonic MMS19 nonsynonymous SNV MMS19:NM_001289403:exon3:c.C203G:p.A68G,MMS19:NM_001330128:exon3:c.C203G:p.A68G,MMS19:NM_001351356:exon3:c.C203G:p.A68G,MMS19:NM_022362:exon3:c.C203G:p.A68G,MMS19:NM_001289405:exon4:c.C203G:p.A68G 0.94 0.88 0.98 0.96 0.98 0.92 0.9649 0.8880 0.9899 0.9771 0.9608 0.9789 0.9776 0.9328 0.95 0.89 0.98 0.92 . rs2275586 . . . . . . . . . . . . . 1.0 0.037 T 0.0 0.026 B 0.001 0.040 B 0.000 0.537 N 0.999 0.810 P -0.515 0.026 N -0.57 0.713 T 3.7 0.001 N 0.048 0.353 -0.955 0.400 T 0.000 0.000 T . . . 1.135 0.203 11.40 0.687 0.085 0.060 0.118 N c -0.654 -0.323 1.000 0.747 0.757 0.989 0 6.08 0.990 3.824 0.552 0.067 0.174 1.000 0.715 0.993 0.574 12.692 0.562 Armadillo-like helical;Armadillo-like helical|Armadillo-type fold . . 0.9670 0.8873 0.9879 0.9784 0.9775 0.9601 0.9796 0.9737 0.9312 0.9507 0.8826 0.9821 0.9669 0.9796 0.9614 0.9804 0.9827 het 176.76 14 10 99240758 . G C 176.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.663;QD=12.63;ReadPosRankSum=-0.299;VQSLOD=6.0397;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:207,0,172 10 99332488 99332488 A C exonic ANKRD2 synonymous SNV ANKRD2:NM_001129981:exon1:c.A24C:p.A8A,ANKRD2:NM_001291218:exon1:c.A282C:p.A94A,ANKRD2:NM_020349:exon1:c.A24C:p.A8A 0.35 0.26 0.27 0.53 0.27 0.45 0.3495 0.2645 0.3466 0.5048 0.4129 0.3160 0.3851 0.4266 0.25 0.23 0.26 0.32 0.25 rs12221474 COSM4144998 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3055 0.2259 0.2836 0.2564 0.4817 0.3548 0.2651 0.2973 0.3981 0.2842 0.2356 0.2840 0.2417 0.4715 0.3471 0.2752 0.3337 het 112.88 14 10 99332488 . A C 112.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.097;DP=14;Dels=0.00;FS=2.363;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=-0.452;QD=8.06;ReadPosRankSum=-0.839;VQSLOD=4.8703;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:143,0,208 10 99371344 99371344 C A exonic HOGA1 synonymous SNV HOGA1:NM_001134670:exon3:c.C423A:p.A141A,HOGA1:NM_138413:exon7:c.C912A:p.A304A 0.32 0.32 0.24 0.35 0.25 0.41 0.3076 0.3088 0.2100 0.3789 0.2541 0.2976 0.3215 0.3988 0.3 0.31 0.3 0.38 0.25 rs12261752 COSM4144999 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Uncertain significance|Benign Primary_hyperoxaluria\x2c_type_III|Primary_hyperoxaluria RCV000186471.1|RCV000302458.1 MedGen:OMIM:Orphanet|MedGen:Orphanet:SNOMED_CT C3150878:613616:ORPHA93600|C0020501:ORPHA416:17901006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3012 0.3087 0.2088 0.3494 0.3719 0.2538 0.2954 0.3014 0.3983 0.2902 0.3063 0.2464 0.3675 0.3513 0.2479 0.2869 0.2618 het 1009.41 77 10 99371344 . C A 1009.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.890;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8499;MQ=59.76;MQ0=0;MQRankSum=0.294;QD=13.11;ReadPosRankSum=-0.261;VQSLOD=5.9060;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,43:77:99:1039,0,847 10 99376092 99376092 T C exonic MORN4 synonymous SNV MORN4:NM_001098831:exon5:c.A369G:p.R123R,MORN4:NM_178832:exon5:c.A369G:p.R123R 0.3 0.49 0.25 0.28 0.2 0.2 0.2481 0.4423 0.3079 0.3253 0.2320 0.2053 0.21 0.2240 0.29 0.44 0.22 0.32 0.19 rs3814555 COSM147019;COSM147020 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2423 0.4435 0.2949 0.1046 0.3196 0.2261 0.2104 0.2098 0.2185 0.2951 0.4517 0.2601 0.1225 0.3294 0.2302 0.2250 0.2347 het 1019.41 91 10 99376092 . T C 1019.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.731;DP=91;Dels=0.00;FS=1.767;HRun=1;HaplotypeScore=1.7882;MQ=59.01;MQ0=0;MQRankSum=-0.008;QD=11.20;ReadPosRankSum=-0.480;VQSLOD=6.7069;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,40:91:99:1049,0,1313 10 99376152 99376152 A G exonic MORN4 synonymous SNV MORN4:NM_001098831:exon5:c.T309C:p.P103P,MORN4:NM_178832:exon5:c.T309C:p.P103P 0.33 0.61 0.26 0.28 0.2 0.2 0.2620 0.5533 0.3144 0.3249 0.2328 0.2072 0.2231 0.2394 0.33 0.54 0.22 0.33 0.21 rs3814556 COSM147021;COSM147022 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 0.338 0.127 6.054 0.651 0.074 0.031 0.080 N c -1.348 -1.557 1.000 0.747 0.706 0.609 0 -10.1 0.003 -2.928 0.008 -2.229 0.004 0.000 0.063 0.797 0.335 3.474 0.071 . ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid 0.2501 0.5569 0.2978 0.1044 0.3198 0.2259 0.2097 0.2141 0.2178 0.3266 0.5611 0.2709 0.1225 0.3294 0.2313 0.2254 0.2367 het 743.03 68 10 99376152 . A G 743.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.540;DP=68;Dels=0.00;FS=6.817;HRun=3;HaplotypeScore=0.9995;MQ=59.66;MQ0=0;MQRankSum=-0.451;QD=10.93;ReadPosRankSum=-0.464;VQSLOD=5.1650;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,29:68:99:773,0,1040 10 99410790 99410790 T C exonic PI4K2A synonymous SNV PI4K2A:NM_018425:exon2:c.T528C:p.P176P 0.34 0.62 0.27 0.3 0.2 0.2 0.2629 0.5577 0.3148 0.3319 0.2397 0.2092 0.2148 0.2334 0.33 0.55 0.22 0.33 0.26 rs7915721 COSM1127960;COSM1127962 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2564 0.5654 0.3033 0.1210 0.3268 0.2329 0.2143 0.2221 0.2315 0.3345 0.5729 0.2757 0.1391 0.3344 0.2376 0.2318 0.2449 het 1261.41 101 10 99410790 . T C 1261.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.730;DP=101;Dels=0.00;FS=0.768;HRun=2;HaplotypeScore=2.3296;MQ=59.57;MQ0=0;MQRankSum=-0.564;QD=12.49;ReadPosRankSum=1.876;VQSLOD=6.0780;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1291,0,1657 10 99439541 99439541 G C exonic AVPI1 nonsynonymous SNV AVPI1:NM_021732:exon2:c.C122G:p.A41G 0.51 0.7 0.44 0.47 0.36 0.49 0.4389 0.6523 0.4584 0.5091 0.3774 0.3824 0.3941 0.5085 0.48 0.65 0.4 0.5 0.34 rs2275047 COSM428249 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.182 P -1.39 0.006 N 1.59 0.288 T 0.87 0.017 N 0.014 0.002 -1.015 0.254 T 0.000 0.000 T . . . 1.865 0.285 15.38 0.794 0.123 0.123 0.170 N c -0.618 -0.355 1.000 0.747 0.672 0.522 0 5.09 0.685 1.571 0.358 0.004 0.136 1.000 0.715 0.989 0.536 13.397 0.601 . ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13|ENSG00000171160.13 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Frontal_Cortex_BA9|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Vagina 0.4300 0.6560 0.4405 0.3352 0.5075 0.3619 0.3862 0.3931 0.5081 0.4762 0.6723 0.4234 0.3344 0.4870 0.3624 0.3981 0.4022 het 352.87 40 10 99439541 . G C 352.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.123;DP=40;Dels=0.00;FS=5.711;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.659;QD=8.82;ReadPosRankSum=0.659;VQSLOD=4.5145;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,15:40:99:383,0,631 10 99439556 99439556 A C exonic AVPI1 nonsynonymous SNV AVPI1:NM_021732:exon2:c.T107G:p.L36R 0.048 0.0023 0.03 0.071 0.061 0.084 0.0678 0.0154 0.0284 0.0554 0.0698 0.0803 0.0800 0.0804 0.057 0.017 0.078 0.022 0.074 rs11556392 COSM1162384 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.999 0.916 D . . . 1.000 0.497 D 2.005 0.547 M 1.44 0.327 T -3.33 0.662 D 0.291 0.350 -1.143 0.012 T 0.011 0.042 T . . . 5.925 0.813 27.6 0.998 0.846 0.917 0.537 D c 0.629 0.613 1.000 0.747 0.672 0.522 0 5.09 0.685 6.524 0.735 1.066 0.848 1.000 0.715 0.550 0.279 13.984 0.637 . . . 0.0622 0.0124 0.0266 0.0845 0.0512 0.0654 0.0741 0.0650 0.0785 0.0523 0.0124 0.0407 0.0894 0.0512 0.0636 0.0721 0.0644 het 446.55 28 10 99439556 . A C 446.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.495;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9465;MQ=60.00;MQ0=0;MQRankSum=0.231;QD=15.95;ReadPosRankSum=0.334;VQSLOD=5.4611;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,18:28:99:477,0,230 10 99504595 99504595 G A exonic ZFYVE27 synonymous SNV ZFYVE27:NM_001174121:exon2:c.G84A:p.K28K,ZFYVE27:NM_001002261:exon3:c.G378A:p.K126K,ZFYVE27:NM_001174119:exon3:c.G282A:p.K94K,ZFYVE27:NM_001002262:exon4:c.G378A:p.K126K,ZFYVE27:NM_144588:exon4:c.G378A:p.K126K 0.015 0.0008 0.01 0.001 0.018 0.048 0.0258 0.0044 0.0104 0.0001 0.0111 0.0311 0.0348 0.0479 0.021 0.0043 0.029 . 0.033 rs75060573 . . other|Benign|Likely benign not_specified|Spastic_paraplegia|Spastic_Paraplegia\x2c_Dominant RCV000118904.3|RCV000205019.3|RCV000344472.1 MedGen|MedGen|MedGen CN169374|C0037772|CN239430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0235 0.0042 0.0084 0.0281 0.0002 0.0111 0.0301 0.0234 0.0465 0.0188 0.0056 0.0060 0.0132 0 0.0106 0.0310 0.0214 het 729.01 62 10 99504595 . G A 729.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.228;DP=62;Dels=0.00;FS=3.472;HRun=2;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;MQRankSum=0.431;QD=11.76;ReadPosRankSum=0.262;VQSLOD=6.1418;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,28:62:99:759,0,1050 10 99504630 99504630 G T exonic ZFYVE27 nonsynonymous SNV ZFYVE27:NM_001174121:exon2:c.G119T:p.G40V,ZFYVE27:NM_001002261:exon3:c.G413T:p.G138V,ZFYVE27:NM_001174119:exon3:c.G317T:p.G106V,ZFYVE27:NM_001002262:exon4:c.G413T:p.G138V,ZFYVE27:NM_144588:exon4:c.G413T:p.G138V 0.7 0.78 0.6 0.54 0.8 0.71 0.7324 0.7704 0.5795 0.5470 0.8085 0.7738 0.75 0.7063 0.76 0.77 0.76 0.69 0.66 rs10882993 . . other|Benign not_specified|Spastic_Paraplegia\x2c_Dominant RCV000118905.3|RCV000290843.1 MedGen|MedGen CN169374|CN239430 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.748 0.588 P -2.045 0.002 N 1.58 0.291 T 1.69 0.008 N 0.176 0.239 -0.949 0.412 T 0.000 0.000 T . . . -0.622 0.049 0.111 0.106 0.001 0.069 0.128 N c -1.176 -0.950 1.000 0.747 0.745 0.986 0 4.53 0.548 2.383 0.438 -0.257 0.089 1.000 0.715 0.787 0.332 8.627 0.329 . ENSG00000155254.8|ENSG00000155256.13|ENSG00000155256.13|ENSG00000155254.8|ENSG00000155256.13|ENSG00000155254.8|ENSG00000155254.8 Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7084 0.7529 0.5581 0.7946 0.5044 0.7975 0.7582 0.7357 0.6941 0.7482 0.7521 0.6005 0.7815 0.4994 0.7971 0.7673 0.7730 het 613.48 39 10 99504630 . G T 613.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.183;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9937;MQ=59.04;MQ0=0;MQRankSum=0.155;QD=15.73;ReadPosRankSum=0.268;VQSLOD=6.3860;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,21:39:99:643,0,494 10 99968670 99968670 A G exonic R3HCC1L nonsynonymous SNV R3HCC1L:NM_001351016:exon2:c.A799G:p.T267A,R3HCC1L:NM_001351013:exon3:c.A799G:p.T267A,R3HCC1L:NM_001256620:exon4:c.A799G:p.T267A,R3HCC1L:NM_001351012:exon4:c.A799G:p.T267A,R3HCC1L:NM_001351017:exon4:c.A799G:p.T267A,R3HCC1L:NM_014472:exon4:c.A799G:p.T267A,R3HCC1L:NM_001256619:exon5:c.A799G:p.T267A,R3HCC1L:NM_001351015:exon5:c.A799G:p.T267A,R3HCC1L:NM_138469:exon5:c.A799G:p.T267A,R3HCC1L:NM_001351011:exon6:c.A799G:p.T267A,R3HCC1L:NM_001351014:exon6:c.A799G:p.T267A,R3HCC1L:NM_001351010:exon7:c.A799G:p.T267A 0.0072 . 0.0029 . 0.005 0.03 0.0078 0.0011 0.0047 0 0.0014 0.0080 0.0066 0.0205 0.0051 0.0011 0.0071 0.022 0.0082 rs34530959 . . . . . . . . . . . . . 0.137 0.259 T 0.032 0.189 B 0.014 0.158 B 0.167 0.031 N 1 0.090 N 1.1 0.281 L 3.25 0.068 T -0.6 0.178 N 0.04 0.020 -1.001 0.296 T 0.011 0.043 T . . . -1.767 0.011 0.002 0.512 0.044 0.004 0.020 N c -1.461 -1.560 1.000 0.428 0.707 0.730 0 -7.45 0.012 -1.589 0.022 -0.655 0.041 0.000 0.063 0.016 0.126 9.844 0.400 . . . 0.0073 0.0012 0.0031 0.0059 0 0.0011 0.0084 0.0080 0.0195 0.0051 0.0015 0.0036 0.0033 0 0.0003 0.0088 0.0071 het 1789.91 125 10 99968670 . A G 1789.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.066;DP=125;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=3.5350;MQ=59.45;MQ0=0;MQRankSum=0.615;QD=14.32;ReadPosRankSum=0.269;VQSLOD=5.6537;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,63:125:99:1820,0,1553 10 99969568 99969568 A G exonic R3HCC1L nonsynonymous SNV R3HCC1L:NM_001351016:exon2:c.A1697G:p.H566R,R3HCC1L:NM_001351013:exon3:c.A1697G:p.H566R,R3HCC1L:NM_001256620:exon4:c.A1697G:p.H566R,R3HCC1L:NM_001351012:exon4:c.A1697G:p.H566R,R3HCC1L:NM_001351017:exon4:c.A1697G:p.H566R,R3HCC1L:NM_014472:exon4:c.A1697G:p.H566R,R3HCC1L:NM_001256619:exon5:c.A1697G:p.H566R,R3HCC1L:NM_001351015:exon5:c.A1697G:p.H566R,R3HCC1L:NM_138469:exon5:c.A1697G:p.H566R,R3HCC1L:NM_001351011:exon6:c.A1697G:p.H566R,R3HCC1L:NM_001351014:exon6:c.A1697G:p.H566R,R3HCC1L:NM_001351010:exon7:c.A1697G:p.H566R 0.29 0.087 0.38 0.35 0.31 0.41 0.3222 0.1216 0.4262 0.3134 0.3013 0.3132 0.3172 0.4252 0.24 0.13 0.3 0.25 0.29 rs11189513 . . . . . . . . . . . . . 0.149 0.247 T 0.01 0.144 B 0.01 0.139 B 0.698 0.062 N 1 0.090 P 1.12 0.289 L 3.32 0.062 T -1.83 0.429 N 0.018 0.004 -0.901 0.479 T 0.000 0.000 T . . . -2.252 0.005 0.001 0.637 0.071 0.029 0.076 N c -1.032 -1.099 0.837 0.248 0.706 0.609 0 -1.98 0.070 -0.025 0.123 1.140 0.893 0.000 0.063 0.036 0.153 6.626 0.219 . ENSG00000138131.3|ENSG00000166024.9|ENSG00000166024.9|ENSG00000166024.9|ENSG00000230928.1 Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.3291 0.1197 0.4183 0.2888 0.3215 0.3054 0.3152 0.3258 0.4210 0.2617 0.1199 0.3995 0.2781 0.3143 0.3042 0.3185 0.2929 hom 5001.66 167 10 99969568 . A G 5001.66 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9465;MQ=58.94;MQ0=0;QD=29.95;VQSLOD=9.2109;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5001,400,0 10 99991408 99991408 A G exonic R3HCC1L nonsynonymous SNV R3HCC1L:NM_001351016:exon3:c.A1925G:p.H642R,R3HCC1L:NM_001256621:exon4:c.A143G:p.H48R,R3HCC1L:NM_001351013:exon4:c.A1925G:p.H642R,R3HCC1L:NM_001256620:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351012:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351017:exon5:c.A1925G:p.H642R,R3HCC1L:NM_014472:exon5:c.A1925G:p.H642R,R3HCC1L:NM_001351015:exon6:c.A1925G:p.H642R,R3HCC1L:NM_138469:exon6:c.A1925G:p.H642R,R3HCC1L:NM_001256619:exon7:c.A1967G:p.H656R,R3HCC1L:NM_001351011:exon7:c.A1925G:p.H642R,R3HCC1L:NM_001351014:exon7:c.A1925G:p.H642R,R3HCC1L:NM_001351010:exon8:c.A1925G:p.H642R 0.99 0.97 1. 1. 1. 1. 0.9973 0.9700 0.9991 1 1 0.9999 0.9978 0.9999 0.99 0.97 1. 0.97 1. rs1952061 . . . . . . . . . . . . . 1.0 0.094 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.090 P -2.34 0.001 N 2.44 0.152 T 3.4 0.001 N 0.044 0.172 -0.951 0.409 T 0.000 0.000 T . . . 0.627 0.154 8.339 0.887 0.176 0.255 0.225 N c -0.585 -0.245 0.999 0.379 0.706 0.609 0 5.73 0.897 4.539 0.601 0.138 0.222 1.000 0.715 1.000 0.888 10.181 0.420 Nucleotide-binding alpha-beta plait domain . . 0.9980 0.9712 0.9987 1 1 1 0.9999 0.9998 0.9998 0.9909 0.9680 1 1 1 1 0.9999 0.9990 hom 3207.16 113 10 99991408 . A G 3207.16 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=58.36;MQ0=0;QD=28.38;VQSLOD=8.0454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:113:99:3240,253,0 10 100017453 100017453 T G exonic LOXL4 nonsynonymous SNV LOXL4:NM_032211:exon8:c.A1214C:p.D405A 0.36 0.058 0.52 0.61 0.34 0.43 0.3737 0.1008 0.6056 0.5682 0.3399 0.3379 0.3590 0.4407 0.25 0.1 0.33 0.32 0.3 rs1983864 COSM3751470 1(breast);1(haematopoietic_and_lymphoid_tissue);3(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 2.88 0.837 M 0.62 0.533 T -6.69 0.924 D 0.346 0.408 -0.872 0.504 T 0.000 0.000 T . . . 6.700 0.916 32 0.996 0.735 0.957 0.655 D c 0.777 0.737 1.000 0.747 0.554 0.283 0 5.55 0.832 8.017 0.886 1.061 0.807 1.000 0.715 0.983 0.502 15.692 0.771 SRCR domain|SRCR-like domain ENSG00000119943.6|ENSG00000166024.9|ENSG00000230928.1|ENSG00000166024.9|ENSG00000166024.9|ENSG00000230928.1 Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.3865 0.0968 0.5868 0.3174 0.5688 0.3441 0.3391 0.3713 0.4372 0.2927 0.1021 0.5359 0.3167 0.5761 0.3417 0.3449 0.3340 hom 7471.88 231 10 100017453 . T G 7471.88 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=231;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7700;MQ=59.33;MQ0=0;MQRankSum=0.949;QD=32.35;ReadPosRankSum=0.618;VQSLOD=8.5175;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,230:231:99:7471,575,0 10 100018844 100018844 G A exonic LOXL4 synonymous SNV LOXL4:NM_032211:exon6:c.C843T:p.H281H 0.5 0.23 0.61 0.75 0.45 0.59 0.5673 0.3416 0.7575 0.7470 0.5505 0.5255 0.5775 0.6127 0.37 0.27 0.42 0.47 0.36 rs7077073 COSM3722378 1(thyroid);1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5031 0.2653 0.6914 0.4058 0.7255 0.4359 0.4395 0.4890 0.5782 0.4155 0.2711 0.6543 0.4205 0.7522 0.4395 0.4420 0.4488 hom 840.86 24 10 100018844 . G A 840.86 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.04;VQSLOD=13.9420;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:69.22:874,69,0 10 100144782 100144782 C T exonic PYROXD2 nonsynonymous SNV PYROXD2:NM_032709:exon15:c.G1597A:p.A533T 0.4 0.37 0.41 0.44 0.26 0.55 0.3710 0.3728 0.5113 0.4200 0.2858 0.3098 0.3064 0.5285 0.33 0.37 0.3 0.36 0.27 rs2296441 COSM3751472 1(large_intestine) . . . . . . . . . . . 0.637 0.050 T 0.117 0.249 B 0.01 0.139 B 0.000 0.629 D 0.000 0.520 P 0.945 0.238 L 0.81 0.485 T -0.74 0.208 N 0.201 0.246 -0.937 0.431 T 0.000 0.000 T . . . 3.869 0.522 23.5 0.915 0.201 0.513 0.286 D c -0.306 -0.137 1.000 0.467 0.615 0.372 0 5.16 0.704 0.990 0.290 0.935 0.490 0.430 0.262 0.989 0.536 8.143 0.301 FAD/NAD(P)-binding domain ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000107521.14|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000107521.14|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.3717 0.3740 0.4992 0.3570 0.4171 0.2856 0.3028 0.3396 0.5280 0.3254 0.3725 0.4459 0.38 0.4195 0.2873 0.2884 0.3340 het 729.43 56 10 100144782 . C T 729.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.901;DP=56;Dels=0.00;FS=5.141;HRun=0;HaplotypeScore=2.6198;MQ=59.17;MQ0=0;MQRankSum=-0.032;QD=13.03;ReadPosRankSum=0.053;VQSLOD=5.8206;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,34:56:99:759,0,315 10 100147060 100147060 A G exonic PYROXD2 synonymous SNV PYROXD2:NM_032709:exon14:c.T1452C:p.F484F 0.52 0.64 0.48 0.56 0.33 0.54 0.4406 0.5952 0.5839 0.5400 0.3796 0.3653 0.3720 0.5233 0.43 0.58 0.35 0.5 0.47 rs4345897 COSM3751473 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4406 0.5979 0.5664 0.4577 0.5374 0.3935 0.3534 0.4184 0.5203 0.4430 0.6068 0.5120 0.4934 0.5489 0.3966 0.3440 0.4133 het 914.19 94 10 100147060 . A G 914.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.375;DP=94;Dels=0.00;FS=0.853;HRun=0;HaplotypeScore=2.5220;MQ=59.60;MQ0=0;MQRankSum=1.961;QD=9.73;ReadPosRankSum=1.059;VQSLOD=5.8584;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,38:94:99:944,0,1418 10 100148176 100148176 A G exonic PYROXD2 nonsynonymous SNV PYROXD2:NM_032709:exon13:c.T1382C:p.M461T 0.6 0.88 0.54 0.58 0.35 0.54 0.4745 0.7847 0.6488 0.5596 0.4292 0.3747 0.4310 0.5346 0.5 0.77 0.36 0.64 0.48 rs2147896 COSM3751474 1(large_intestine) . . . . . Urinary metabolites (H-NMR features) . -0.36 24586186 rs2147896 6E-19 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.212 P -2.63 0.000 N 2.07 0.204 T 4.96 0.000 N 0.142 0.166 -0.968 0.376 T 0.000 0.000 T . . . 0.346 0.127 6.131 0.809 0.130 0.104 0.157 N c -0.966 -0.658 1.000 0.747 0.625 0.395 0 4.92 0.640 6.567 0.737 0.104 0.200 1.000 0.715 0.718 0.314 13.121 0.586 . ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000107521.14|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000107521.14|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000119943.6|ENSG00000107521.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Uterus|Whole_Blood 0.4700 0.7901 0.6285 0.4659 0.5561 0.4305 0.3595 0.4431 0.5237 0.5054 0.7876 0.5718 0.5033 0.5654 0.4369 0.3506 0.4492 het 691.90 51 10 100148176 . A G 691.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.236;DP=51;Dels=0.00;FS=2.732;HRun=0;HaplotypeScore=3.7109;MQ=59.55;MQ0=0;MQRankSum=1.217;QD=13.57;ReadPosRankSum=1.010;VQSLOD=5.8864;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,27:51:99:722,0,623 10 100167396 100167396 G A exonic PYROXD2 synonymous SNV PYROXD2:NM_032709:exon4:c.C258T:p.R86R 0.42 0.51 0.38 0.44 0.24 0.49 0.3377 0.4760 0.3826 0.4357 0.2308 0.2725 0.3022 0.4755 0.34 0.47 0.27 0.41 0.34 rs12763326 COSM3751475 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3191 0.4684 0.3750 0.3262 0.4203 0.2158 0.2515 0.2942 0.4605 0.1903 0.4323 0.1761 0.0643 0.2297 0.0753 0.0436 0.1145 het 514.52 67 10 100167396 . G A 514.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.084;DP=67;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=0.8667;MQ=58.53;MQ0=0;MQRankSum=1.199;QD=7.68;ReadPosRankSum=-0.188;VQSLOD=5.6745;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,25:67:99:545,0,1036 10 100189568 100189568 C A exonic HPS1 nonsynonymous SNV HPS1:NM_001322480:exon7:c.G586T:p.G196W,HPS1:NM_001322481:exon7:c.G586T:p.G196W,HPS1:NM_001322483:exon8:c.G478T:p.G160W,HPS1:NM_001322484:exon8:c.G478T:p.G160W,HPS1:NM_000195:exon9:c.G847T:p.G283W,HPS1:NM_001322476:exon9:c.G847T:p.G283W,HPS1:NM_001322477:exon9:c.G847T:p.G283W,HPS1:NM_182639:exon9:c.G847T:p.G283W 0.026 0.014 0.033 . 0.073 0.013 0.0513 0.0256 0.0277 0.0001 0.0673 0.0739 0.0525 0.0136 0.06 0.03 0.076 0.033 0.033 rs11592273 COSM4144277;COSM4144278;COSM4144276 1(pancreas);1(thyroid) Benign|Benign|Likely benign Hermansky-Pudlak_syndrome_1|not_specified|Hermansky-Pudlak_syndrome RCV000020198.1|RCV000155543.2|RCV000339746.1 MedGen:OMIM|MedGen|MedGen:SNOMED_CT C2931875:203300|CN169374|C0079504:9311003 . . . . . . 0.034 0.453 D 0.99 0.615 D 0.688 0.561 P 0.002 0.008 N 1 0.090 N 1.39 0.351 L 1.54 0.441 T -1.1 0.285 N 0.125 0.141 -0.984 0.340 T 0.008 0.028 T . . . 2.088 0.312 16.77 0.779 0.117 0.095 0.150 N c -1.672 -1.878 0.585 0.216 0.732 0.924 0 -5.53 0.023 -1.549 0.023 -5.016 0.000 0.000 0.063 0.000 0.016 7.277 0.253 . . . 0.0488 0.0227 0.0263 0.0186 0.0002 0.0647 0.0756 0.0565 0.0135 0.0524 0.0185 0.0394 0.0265 0.0012 0.0633 0.0757 0.0633 het 3012.03 228 10 100189568 . C A 3012.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.518;DP=228;DS;Dels=0.00;FS=0.488;HRun=1;HaplotypeScore=8.0944;MQ=58.67;MQ0=0;MQRankSum=-0.353;QD=13.21;ReadPosRankSum=0.677;VQSLOD=4.6924;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,112:228:99:3042,0,2951 10 100190920 100190920 G A exonic HPS1 synonymous SNV HPS1:NM_001322483:exon6:c.C267T:p.L89L,HPS1:NM_001322484:exon6:c.C267T:p.L89L,HPS1:NM_001322485:exon6:c.C267T:p.L89L,HPS1:NM_000195:exon7:c.C636T:p.L212L,HPS1:NM_001322476:exon7:c.C636T:p.L212L,HPS1:NM_001322477:exon7:c.C636T:p.L212L,HPS1:NM_001322478:exon7:c.C636T:p.L212L,HPS1:NM_001322479:exon7:c.C636T:p.L212L,HPS1:NM_001322491:exon7:c.C636T:p.L212L,HPS1:NM_182639:exon7:c.C636T:p.L212L 0.28 0.14 0.29 0.34 0.3 0.4 0.3157 0.1446 0.3325 0.3354 0.3578 0.3046 0.3043 0.4284 0.24 0.13 0.29 0.24 0.31 rs1801287 . . Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000153371.5|RCV000400304.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3177 0.1380 0.3330 0.2892 0.3345 0.3598 0.3005 0.3065 0.4224 0.2604 0.1410 0.3103 0.2914 0.3370 0.3649 0.2916 0.2935 het 944.53 64 10 100190920 . G A 944.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.558;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=58.32;MQ0=0;MQRankSum=-1.322;QD=14.76;ReadPosRankSum=-1.443;VQSLOD=5.0613;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,35:64:99:975,0,751 10 101090428 101090428 T G exonic CNNM1 synonymous SNV CNNM1:NM_001345887:exon1:c.T1284G:p.V428V,CNNM1:NM_001345888:exon1:c.T1284G:p.V428V,CNNM1:NM_001345889:exon1:c.T1284G:p.V428V,CNNM1:NM_020348:exon1:c.T1284G:p.V428V 0.87 0.95 0.74 0.87 0.82 0.89 0.8388 0.9414 0.7003 0.8630 0.8317 0.8305 0.8311 0.8955 0.87 0.94 0.83 0.87 . rs2862600 COSM4144279;COSM4144280 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8319 0.9428 0.7071 0.8279 0.8574 0.8325 0.8340 0.8135 0.8951 0.8655 0.9424 0.7560 0.8146 0.8634 0.8310 0.8380 0.8367 hom 1691.50 53 10 101090428 . T G 1691.50 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;QD=31.92;VQSLOD=9.5920;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1725,132,0 10 101293035 101293035 C A exonic NKX2-3 synonymous SNV NKX2-3:NM_145285:exon1:c.C147A:p.A49A 0.55 0.56 0.6 0.55 0.5 0.55 0.5375 0.5593 0.6385 0.5445 0.5461 0.5129 0.5249 0.5475 0.54 0.57 0.52 0.39 0.51 rs41290504 COSM426905 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5337 0.5540 0.6241 0.4566 0.5437 0.5186 0.5090 0.5143 0.5478 0.5365 0.5622 0.5921 0.4503 0.5587 0.5204 0.5200 0.5602 hom 1369.79 39 10 101293035 . C A 1369.79 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8311;MQ=60.00;MQ0=0;QD=35.12;VQSLOD=8.6394;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1403,111,0 10 101502968 101502968 A G exonic CUTC synonymous SNV CUTC:NM_015960:exon4:c.A252G:p.P84P 0.064 0.0053 0.15 0.023 0.11 0.079 0.0963 0.0194 0.1666 0.0230 0.1039 0.1069 0.0991 0.0882 0.078 0.018 0.11 0.033 0.066 rs3740076 COSM3751480 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0993 0.0188 0.1601 0.0898 0.0235 0.1053 0.1063 0.0997 0.0888 0.0753 0.0154 0.1289 0.1026 0.0222 0.1161 0.1012 0.1008 het 1520.09 165 10 101502968 . A G 1520.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.073;DP=165;Dels=0.00;FS=0.612;HRun=0;HaplotypeScore=2.7678;MQ=58.33;MQ0=0;MQRankSum=-0.504;QD=9.21;ReadPosRankSum=-1.351;VQSLOD=5.2454;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:99,66:165:99:1550,0,2567 10 101544447 101544447 A T exonic ABCC2 nonsynonymous SNV ABCC2:NM_000392:exon2:c.A116T:p.Y39F 0.99 0.98 1. 1. 1. 1. 0.9980 0.9791 0.9989 1 1 0.9999 0.9989 1 0.99 0.98 1. 0.99 1. rs927344 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.985 0.247 P -1.375 0.006 N 0.5 0.556 T 0.37 0.036 N 0.287 0.346 -0.937 0.432 T 0.000 0.000 T . . . 1.609 0.255 13.90 0.895 0.183 0.129 0.173 N c -0.729 -0.408 1.000 0.747 0.554 0.283 0 5.58 0.843 5.542 0.667 -0.246 0.091 1.000 0.715 0.991 0.552 11.231 0.480 . . . 0.9985 0.9791 0.9989 1 1 1 0.9999 0.9995 1.0000 0.9944 0.9802 1 1 1 1 1 0.9980 hom 5241.32 163 10 101544447 . A T 5241.32 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9907;MQ=59.86;MQ0=0;QD=32.16;VQSLOD=9.0749;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5241,427,0 10 101564012 101564012 C G exonic ABCC2 synonymous SNV ABCC2:NM_000392:exon10:c.C1446G:p.T482T 0.0032 0.0008 0.0072 . 0.0099 . 0.0100 0.0019 0.0030 0 0.0316 0.0136 0.0077 0.0022 0.011 0.0027 0.015 . . rs113646094 COSM5020588 1(soft_tissue) Benign|Likely benign not_specified|Dubin-Johnson_syndrome RCV000244206.1|RCV000335035.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0022350:237500:ORPHA234:44553005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0104 0.0020 0.0031 0.0124 0 0.0303 0.0136 0.0075 0.0021 0.0116 0.0027 0.0036 0.0132 0 0.0309 0.0139 0.0122 het 1229.50 113 10 101564012 . C G 1229.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.905;DP=113;Dels=0.00;FS=3.619;HRun=0;HaplotypeScore=8.4933;MQ=59.04;MQ0=0;MQRankSum=0.084;QD=10.88;ReadPosRankSum=-0.205;VQSLOD=3.8108;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,50:113:99:1259,0,1743 10 101604207 101604207 C T exonic ABCC2 synonymous SNV ABCC2:NM_000392:exon28:c.C3972T:p.I1324I 0.29 0.22 0.34 0.25 0.37 0.3 0.3420 0.2583 0.3462 0.2422 0.3456 0.3712 0.3300 0.3255 0.33 0.26 0.37 0.28 0.36 rs3740066 COSM147024 1(stomach);1(haematopoietic_and_lymphoid_tissue);16(soft_tissue);1(large_intestine) Benign|Benign not_specified|Dubin-Johnson_syndrome RCV000176843.2|RCV000396735.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0022350:237500:ORPHA234:44553005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3409 0.2565 0.3490 0.3446 0.2325 0.3413 0.3703 0.3492 0.3256 0.3248 0.2637 0.3520 0.3377 0.2136 0.3455 0.3656 0.3282 het 3881.79 221 10 101604207 . C T 3881.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.242;DP=221;Dels=0.00;FS=1.668;HRun=1;HaplotypeScore=5.5423;MQ=59.54;MQ0=0;MQRankSum=0.086;QD=17.56;ReadPosRankSum=-0.204;VQSLOD=4.4434;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,124:221:99:3342,0,2406 10 101639796 101639796 G A exonic DNMBP synonymous SNV DNMBP:NM_001318326:exon13:c.C3216T:p.S1072S,DNMBP:NM_001318327:exon13:c.C2184T:p.S728S,DNMBP:NM_015221:exon16:c.C4320T:p.S1440S 0.46 0.54 0.48 0.27 0.54 0.48 0.4878 0.5447 0.4702 0.2690 0.4304 0.5140 0.4824 0.4964 0.53 0.53 0.52 0.46 0.47 rs2255901 COSM1179742;COSM4144282 1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4837 0.5423 0.4778 0.4883 0.2598 0.4250 0.5188 0.5016 0.4970 0.4911 0.5393 0.5036 0.5132 0.2391 0.4336 0.5048 0.4549 het 2295.39 173 10 101639796 . G A 2295.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.095;DP=173;Dels=0.00;FS=7.981;HRun=0;HaplotypeScore=8.7894;MQ=59.41;MQ0=0;MQRankSum=-0.590;QD=13.27;ReadPosRankSum=0.041;VQSLOD=4.0842;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,86:173:99:2325,0,2516 10 101639877 101639877 A C exonic DNMBP nonsynonymous SNV DNMBP:NM_001318326:exon13:c.T3135G:p.C1045W,DNMBP:NM_001318327:exon13:c.T2103G:p.C701W,DNMBP:NM_015221:exon16:c.T4239G:p.C1413W 0.28 0.14 0.33 0.24 0.39 0.33 0.3442 0.1873 0.3413 0.2475 0.3509 0.3779 0.3359 0.3573 0.32 0.19 0.38 0.27 0.34 rs11190305 COSM3735991;COSM3735990 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . 0.181 0.219 T 0.328 0.374 B 0.094 0.410 B 0.017 0.015 N 0.997 0.228 P 0.895 0.225 L 2.76 0.154 T -1.61 0.387 N 0.093 0.230 -1.004 0.288 T 0.000 0.000 T . . . 0.088 0.102 3.482 0.644 0.073 0.154 0.187 N c -1.073 -1.103 1.000 0.473 0.731 0.878 0 0.604 0.167 -0.788 0.047 -0.479 0.053 0.000 0.063 0.001 0.043 1.034 0.014 . ENSG00000095485.12|ENSG00000107554.11|ENSG00000227695.1|ENSG00000107554.11 Artery_Tibial|Artery_Tibial|Thyroid|Thyroid 0.3443 0.1825 0.3460 0.3299 0.2387 0.3433 0.3802 0.3507 0.3555 0.3088 0.1893 0.3481 0.3411 0.2152 0.3479 0.3755 0.3255 het 3198.52 249 10 101639877 . A C 3198.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.397;DP=249;DS;Dels=0.00;FS=2.832;HRun=1;HaplotypeScore=7.3389;MQ=58.79;MQ0=0;MQRankSum=0.155;QD=12.85;ReadPosRankSum=-1.477;VQSLOD=4.5925;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,113:249:99:3229,0,3651 10 101645498 101645498 T C exonic DNMBP synonymous SNV DNMBP:NM_001318326:exon11:c.A2640G:p.P880P,DNMBP:NM_001318327:exon11:c.A1608G:p.P536P,DNMBP:NM_015221:exon14:c.A3744G:p.P1248P 0.48 0.59 0.48 0.27 0.54 0.48 0.5647 0.6367 0.5645 0.3674 0.5384 0.5879 0.5540 0.5343 0.54 0.58 0.52 0.48 0.34 rs2490763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4846 0.5934 0.4776 0.4861 0.2597 0.4245 0.5174 0.5069 0.5003 0.5055 0.5899 0.5048 0.5133 0.2398 0.4343 0.5045 0.4632 het 318.30 24 10 101645498 . T C 318.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.010;DP=24;Dels=0.00;FS=1.935;HRun=0;HaplotypeScore=0.9967;MQ=58.43;MQ0=0;MQRankSum=0.548;QD=13.26;ReadPosRankSum=1.299;VQSLOD=5.8078;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:348,0,267 10 101657880 101657880 G A exonic DNMBP synonymous SNV DNMBP:NM_001318326:exon6:c.C1779T:p.N593N,DNMBP:NM_001318327:exon6:c.C747T:p.N249N,DNMBP:NM_015221:exon9:c.C2883T:p.N961N 0.27 0.16 0.33 0.22 0.39 0.33 0.3455 0.2013 0.3391 0.2151 0.3528 0.3834 0.3348 0.3535 0.32 0.2 0.39 0.24 0.37 rs7919323 COSM3751484;COSM3751483 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3454 0.1948 0.3451 0.3431 0.2112 0.3432 0.3854 0.3517 0.3517 0.3134 0.2014 0.3481 0.3576 0.1933 0.3481 0.3794 0.3313 het 1930.32 182 10 101657880 . G A 1930.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.415;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.04;MQ0=0;MQRankSum=0.197;QD=10.61;ReadPosRankSum=0.398;VQSLOD=6.4628;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,80:182:99:1960,0,2487 10 101667792 101667792 C T exonic DNMBP synonymous SNV DNMBP:NM_001318326:exon3:c.G1410A:p.S470S,DNMBP:NM_001318327:exon3:c.G378A:p.S126S,DNMBP:NM_015221:exon6:c.G2514A:p.S838S 0.0096 0.0015 0.0072 . 0.029 0.012 0.0254 0.0052 0.0062 0.0003 0.0422 0.0372 0.0209 0.0104 0.026 0.0082 0.035 . 0.016 rs17854135 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0229 0.0046 0.0067 0.0054 0.0002 0.0409 0.0354 0.0214 0.0100 0.0247 0.0049 0.0048 0.0066 0 0.0472 0.0354 0.0183 het 1195.64 105 10 101667792 . C T 1195.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.995;DP=105;Dels=0.00;FS=0.743;HRun=2;HaplotypeScore=2.5309;MQ=59.07;MQ0=0;MQRankSum=0.525;QD=11.39;ReadPosRankSum=1.228;VQSLOD=6.2254;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,47:105:99:1226,0,1458 10 101667814 101667814 A G exonic DNMBP nonsynonymous SNV DNMBP:NM_001318326:exon3:c.T1388C:p.M463T,DNMBP:NM_001318327:exon3:c.T356C:p.M119T,DNMBP:NM_015221:exon6:c.T2492C:p.M831T 0.0088 0.0008 0.0072 . 0.028 0.01 0.0228 0.0048 0.0051 0.0002 0.0416 0.0337 0.0187 0.0067 0.024 0.007 0.032 . 0.016 rs17854134 . . . . . . . . . . . . . 0.006 0.632 D 0.485 0.393 P 0.317 0.426 B 0.000 0.447 D 0.998 0.445 D 1.105 0.287 L 0.03 0.622 T -2.92 0.651 D 0.56 0.594 -0.988 0.332 T 0.062 0.257 T . . . 5.672 0.773 26.7 0.977 0.346 0.989 0.888 D c 0.146 0.339 1.000 0.747 0.722 0.854 0 5.99 0.973 7.440 0.794 1.085 0.854 1.000 0.715 1.000 0.888 16.494 0.840 Dbl homology (DH) domain;SH3 domain|Variant SH3 domain . . 0.0205 0.0043 0.0058 0.0043 0.0002 0.0404 0.0317 0.0186 0.0063 0.0230 0.0041 0.0048 0.0033 0 0.0464 0.0326 0.0193 het 1098.03 118 10 101667814 . A G 1098.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.519;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.85;MQ0=0;MQRankSum=-0.275;QD=9.31;ReadPosRankSum=0.280;VQSLOD=6.4921;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,50:118:99:1128,0,1627 10 101715899 101715899 G A exonic DNMBP synonymous SNV DNMBP:NM_015221:exon4:c.C1332T:p.P444P 0.44 0.66 0.44 0.26 0.42 0.37 0.4161 0.6365 0.4353 0.2438 0.3651 0.4141 0.3932 0.3836 0.49 0.62 0.43 0.39 0.43 rs2862923 COSM3997726;COSM3997727 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4092 0.6407 0.4314 0.3425 0.2381 0.3611 0.4200 0.4145 0.3816 0.4665 0.6365 0.4378 0.3907 0.2261 0.3760 0.4207 0.4199 het 2882.98 189 10 101715899 . G A 2882.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.556;DP=189;Dels=0.00;FS=4.261;HRun=0;HaplotypeScore=4.2152;MQ=59.80;MQ0=0;MQRankSum=-0.156;QD=15.25;ReadPosRankSum=1.975;VQSLOD=4.6394;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,100:189:99:2913,0,2273 10 102116311 102116311 A C exonic SCD nonsynonymous SNV SCD:NM_005063:exon5:c.A670C:p.M224L 0.39 0.36 0.55 0.4 0.42 0.26 0.4038 0.3616 0.5785 0.3946 0.3801 0.4138 0.3896 0.2832 0.4 0.36 0.42 0.51 0.38 rs2234970 COSM3997733 1(haematopoietic_and_lymphoid_tissue);13(soft_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.160 0.177 N 1 0.090 P -3.16 0.000 N 2.43 0.153 T 1.26 0.010 N 0.04 0.032 -0.983 0.343 T 0.000 0.000 T . . . -2.577 0.003 0.001 0.453 0.035 0.102 0.156 N c -2.385 -2.318 1.000 0.747 0.722 0.854 0 -8.81 0.007 -3.974 0.004 -1.389 0.012 0.000 0.063 0.006 0.095 4.468 0.110 . . . 0.4111 0.3606 0.5684 0.4306 0.3945 0.3774 0.4126 0.4180 0.2857 0.3909 0.3666 0.5513 0.4362 0.3772 0.3825 0.3982 0.3969 het 933.12 67 10 102116311 . A C 933.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.449;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5226;MQ=58.61;MQ0=0;MQRankSum=1.586;QD=13.93;ReadPosRankSum=1.687;VQSLOD=5.5416;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,34:67:99:963,0,873 10 102222957 102222957 G C exonic WNT8B nonsynonymous SNV WNT8B:NM_003393:exon1:c.G32C:p.C11S 0.19 0.2 0.19 0.13 0.2 0.21 0.2127 0.2070 0.1609 0.1325 0.2365 0.2267 0.2159 0.2281 0.22 0.2 0.23 0.18 0.3 rs3793771 . . . . . . . . . . . . . 0.216 0.192 T 0.0 0.026 B 0.0 0.013 B 0.156 0.178 N 1.000 0.090 P -0.695 0.019 N -0.71 0.729 T 0.15 0.053 N 0.027 0.009 -1.082 0.070 T 0.000 0.000 T . . . 1.101 0.200 11.22 0.645 0.073 0.377 0.256 N c -0.836 -0.596 0.027 0.138 0.554 0.283 0 4.72 0.591 1.656 0.367 -0.294 0.082 0.986 0.359 0.414 0.256 8.145 0.301 . ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood|Whole_Blood 0.2086 0.2063 0.1571 0.2012 0.1274 0.2367 0.2268 0.2100 0.2269 0.2125 0.2138 0.1695 0.2053 0.1142 0.2209 0.2239 0.1986 het 1088.17 112 10 102222957 . G C 1088.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.332;DP=112;Dels=0.00;FS=7.811;HRun=0;HaplotypeScore=2.8799;MQ=59.25;MQ0=0;MQRankSum=2.475;QD=9.72;ReadPosRankSum=-1.068;VQSLOD=3.7711;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,45:112:99:1118,0,1736 10 102247408 102247408 C A exonic SEC31B nonsynonymous SNV SEC31B:NM_015490:exon26:c.G3505T:p.A1169S 0.19 0.21 0.19 0.13 0.2 0.21 0.2201 0.2228 0.1675 0.1357 0.2465 0.2337 0.2260 0.2338 0.22 0.21 0.23 0.2 0.3 rs2298075 COSM426929 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.22 0.189 T 0.02 0.170 B 0.015 0.162 B 0.062 0.221 N 0.855 0.284 P 1.465 0.370 L 0.78 0.494 T -1.34 0.334 N 0.034 0.014 -1.028 0.212 T 0.000 0.000 T . . . 1.443 0.236 13.01 0.949 0.252 0.898 0.502 D c -0.607 -0.483 1.000 0.517 0.707 0.730 0 1.23 0.203 3.434 0.524 -0.021 0.129 1.000 0.715 0.820 0.343 7.753 0.279 . ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood|Whole_Blood 0.2079 0.2100 0.1588 0.2017 0.1268 0.2352 0.2252 0.2100 0.2254 0.2134 0.2179 0.1718 0.2053 0.1142 0.2202 0.2234 0.1986 het 612.88 68 10 102247408 . C A 612.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.864;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.45;MQ0=0;MQRankSum=-0.377;QD=9.01;ReadPosRankSum=-1.476;VQSLOD=6.1638;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,27:68:99:643,0,1121 10 102247526 102247526 G C exonic SEC31B synonymous SNV SEC31B:NM_015490:exon26:c.C3387G:p.L1129L 0.14 0.04 0.18 0.13 0.2 0.21 0.1982 0.0622 0.1528 0.1304 0.2362 0.2248 0.2093 0.2273 0.17 0.06 0.23 0.098 0.3 rs2298074 COSM3997734 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1969 0.0609 0.1497 0.2014 0.1265 0.2344 0.2247 0.2028 0.2256 0.1703 0.0673 0.1675 0.2053 0.1142 0.2205 0.2230 0.1885 het 551.93 57 10 102247526 . G C 551.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.713;DP=57;Dels=0.00;FS=4.062;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=0.830;QD=9.68;ReadPosRankSum=-0.864;VQSLOD=5.1698;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,22:57:99:582,0,935 10 102265183 102265183 G A exonic SEC31B nonsynonymous SNV SEC31B:NM_015490:exon10:c.C1114T:p.P372S 0.19 0.2 0.18 0.13 0.19 0.21 0.2124 0.1958 0.1651 0.1494 0.2353 0.2217 0.2266 0.2493 0.21 0.19 0.22 0.13 0.31 rs2295772 COSM4419114 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.466 N 1.000 0.090 P -1.71 0.003 N 0.74 0.505 T 2.03 0.004 N 0.018 0.130 -1.024 0.225 T 0.000 0.000 T . . . 0.705 0.161 8.862 0.807 0.129 0.671 0.330 D c -0.990 -0.736 1.000 0.500 0.707 0.730 0 3.47 0.387 2.753 0.470 -0.113 0.115 1.000 0.715 0.106 0.191 1.708 0.027 . ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2065 0.1984 0.1602 0.1975 0.1442 0.2365 0.2212 0.2095 0.2258 0.2048 0.2042 0.1695 0.1887 0.1335 0.2210 0.2120 0.1945 het 1541.16 157 10 102265183 . G A 1541.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.837;DP=157;Dels=0.00;FS=4.212;HRun=0;HaplotypeScore=7.7483;MQ=58.78;MQ0=0;MQRankSum=0.405;QD=9.82;ReadPosRankSum=-0.946;VQSLOD=4.3734;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,63:157:99:1571,0,2524 10 102265815 102265815 A G exonic SEC31B synonymous SNV SEC31B:NM_015490:exon9:c.T1026C:p.H342H 0.19 0.2 0.18 0.13 0.19 0.21 0.2089 0.1955 0.1650 0.1495 0.2353 0.2197 0.2170 0.2244 0.21 0.19 0.22 0.13 0.32 rs2295773 COSM4417597 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2061 0.1997 0.1601 0.1949 0.1447 0.2362 0.2203 0.2100 0.2235 0.2048 0.2046 0.1695 0.1833 0.1332 0.2213 0.2120 0.1949 het 4016.07 234 10 102265815 . A G 4016.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.210;DP=234;DS;Dels=0.00;FS=3.704;HRun=0;HaplotypeScore=10.0682;MQ=59.01;MQ0=0;MQRankSum=1.268;QD=17.16;ReadPosRankSum=-1.733;VQSLOD=3.2299;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,117:234:99:3395,0,2980 10 102269085 102269085 C A exonic SEC31B nonsynonymous SNV SEC31B:NM_015490:exon4:c.G387T:p.L129F 0.19 0.23 0.19 0.13 0.19 0.22 0.2139 0.2417 0.1677 0.1494 0.2353 0.2205 0.2211 0.2277 0.23 0.24 0.22 0.16 0.3 rs3793706 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 0.000 0.810 P -2.28 0.001 N 0.71 0.512 T 1.61 0.006 N 0.108 0.135 -1.000 0.300 T 0.000 0.000 T . . . 1.124 0.202 11.35 0.905 0.192 0.429 0.267 N c -1.007 -0.656 1.000 0.747 0.657 0.484 0 4.77 0.603 0.753 0.259 0.242 0.267 1.000 0.715 0.999 0.750 1.367 0.021 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2095 0.2454 0.1633 0.1949 0.1446 0.2362 0.2204 0.2130 0.2243 0.2179 0.2496 0.1775 0.1887 0.1337 0.2212 0.2120 0.1973 het 2624.74 228 10 102269085 . C A 2624.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.921;DP=228;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8874;MQ=59.70;MQ0=0;MQRankSum=-0.021;QD=11.51;ReadPosRankSum=2.591;VQSLOD=5.5331;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:130,98:228:99:2655,0,3832 10 102269206 102269206 A G exonic SEC31B nonsynonymous SNV SEC31B:NM_015490:exon4:c.T266C:p.V89A 0.19 0.2 0.18 0.13 0.19 0.22 0.2097 0.1981 0.1655 0.1503 0.2349 0.2202 0.2179 0.2255 0.21 0.19 0.22 0.13 0.31 rs3763695 COSM4144286 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 0.432 0.095 T 0.0 0.026 B 0.001 0.063 B 0.000 0.449 N 0.000 0.810 P -0.965 0.012 N 1.83 0.248 T -2.1 0.478 N 0.062 0.056 -1.000 0.300 T 0.000 0.000 T . . . 2.067 0.309 16.64 0.889 0.178 0.704 0.343 D c -0.650 -0.341 1.000 0.747 0.732 0.924 0 5.36 0.765 5.194 0.647 0.138 0.222 1.000 0.715 0.994 0.587 7.501 0.265 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000075826.12|ENSG00000166135.9|ENSG00000075826.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2060 0.1996 0.1599 0.1947 0.1447 0.2360 0.2199 0.2100 0.2246 0.2048 0.2036 0.1703 0.1887 0.1340 0.2208 0.2124 0.1949 het 951.58 68 10 102269206 . A G 951.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.626;DP=68;Dels=0.00;FS=1.341;HRun=0;HaplotypeScore=6.6855;MQ=57.94;MQ0=0;MQRankSum=1.178;QD=13.99;ReadPosRankSum=0.049;VQSLOD=4.7450;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:982,0,913 10 102295836 102295836 C G exonic HIF1AN nonsynonymous SNV HIF1AN:NM_017902:exon1:c.C121G:p.P41A 0.18 0.018 0.21 0.25 0.27 0.21 0.2539 0.0578 0.2115 0.2620 0.2541 0.2853 0.2771 0.2584 0.19 0.05 0.26 0.12 0.11 rs2295778 COSM426936 9(soft_tissue);1(pancreas);1(biliary_tract) . . . . . . . . . . . 0.162 0.235 T 0.002 0.090 B 0.0 0.013 B 0.000 0.629 D 0.003 0.435 P 0.895 0.225 L -0.48 0.703 T -0.89 0.240 N 0.145 0.171 -1.102 0.039 T 0.000 0.000 T . . . 1.278 0.218 12.15 0.784 0.118 0.613 0.312 D c -0.159 -0.015 1.0 0.983 0.442 0.072 0 4.13 0.475 3.085 0.496 0.935 0.490 1.000 0.715 0.861 0.359 15.762 0.778 . ENSG00000166135.9|ENSG00000166135.9 Adipose_Subcutaneous|Thyroid 0.2452 0.0471 0.2067 0.3571 0.2577 0.2381 0.2712 0.2412 0.2524 0.1994 0.0539 0.1974 0.3633 0.2571 0.2348 0.2640 0.2510 het 225.27 21 10 102295836 . C G 225.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.140;DP=21;Dels=0.00;FS=2.098;HRun=2;HaplotypeScore=0.9987;MQ=58.89;MQ0=0;MQRankSum=0.456;QD=10.73;ReadPosRankSum=-0.684;VQSLOD=5.7948;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,9:21:99:255,0,328 10 102568983 102568983 A C exonic PAX2 synonymous SNV PAX2:NM_000278:exon7:c.A909C:p.P303P,PAX2:NM_003988:exon7:c.A909C:p.P303P,PAX2:NM_003989:exon7:c.A909C:p.P303P,PAX2:NM_001304569:exon8:c.A1002C:p.P334P,PAX2:NM_003987:exon8:c.A978C:p.P326P,PAX2:NM_003990:exon8:c.A978C:p.P326P 0.38 0.82 0.24 0.098 0.26 0.28 0.2964 0.7462 0.1857 0.0959 0.1809 0.2778 0.2528 0.3193 0.44 0.74 0.29 0.46 0.3 rs1800898 . . not provided|Benign not_provided|not_specified RCV000144384.1|RCV000247276.1 MedGen|MedGen CN221809|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2802 0.7494 0.1939 0.2507 0.0982 0.1746 0.2825 0.2692 0.3221 0.3784 0.7426 0.2220 0.2450 0.0760 0.1840 0.2651 0.2480 het 1407.16 118 10 102568983 . A C 1407.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.275;DP=118;Dels=0.00;FS=1.647;HRun=3;HaplotypeScore=1.7273;MQ=60.00;MQ0=0;MQRankSum=-0.680;QD=11.93;ReadPosRankSum=0.592;VQSLOD=6.4181;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,57:118:99:1437,0,1677 10 102684380 102684380 C A exonic SLF2 nonsynonymous SNV SLF2:NM_001136123:exon5:c.C1622A:p.S541Y,SLF2:NM_018121:exon5:c.C1622A:p.S541Y 0.32 0.16 0.48 0.095 0.57 0.39 0.4574 0.2049 0.4023 0.0906 0.5419 0.5516 0.4889 0.4300 0.43 0.21 0.54 0.28 0.57 rs10883563 COSM3997737;COSM3997736;COSM3997735 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid) . . . . . . . . . . . 0.048 0.405 D 1.0 0.899 D 0.971 0.708 D 0.001 0.405 N 0.569 0.312 P 0.895 0.225 L 0.77 0.619 T -0.82 0.609 N 0.131 0.431 -0.943 0.421 T 0.000 0.000 T . . . 4.670 0.626 24.5 0.990 0.506 0.843 0.431 D c 0.153 0.161 0.999 0.398 0.707 0.730 0 4.17 0.481 1.072 0.301 0.935 0.490 0.968 0.339 1.000 0.888 13.491 0.607 . ENSG00000272572.1|ENSG00000272572.1|ENSG00000272572.1|ENSG00000272572.1|ENSG00000119906.7|ENSG00000272572.1|ENSG00000272572.1|ENSG00000272572.1|ENSG00000272572.1|ENSG00000272572.1|ENSG00000272572.1|ENSG00000272572.1|ENSG00000272572.1|ENSG00000272572.1 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid 0.4644 0.2050 0.4084 0.6134 0.0905 0.5511 0.5526 0.4903 0.4294 0.4259 0.2068 0.4689 0.5503 0.0903 0.5404 0.5515 0.5215 het 1295.44 116 10 102684380 . C A 1295.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.254;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1326;MQ=58.59;MQ0=0;MQRankSum=0.752;QD=11.17;ReadPosRankSum=0.353;VQSLOD=6.0031;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,52:116:99:1325,0,1711 10 102707526 102707526 A G exonic SLF2 synonymous SNV SLF2:NM_001136123:exon15:c.A3042G:p.R1014R,SLF2:NM_018121:exon15:c.A3042G:p.R1014R 0.014 0.0015 0.02 . 0.036 0.019 0.0380 0.0087 0.0146 0.0002 0.0299 0.0551 0.0309 0.0268 0.039 0.011 0.053 0.011 0.057 rs12780429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0366 0.0097 0.0156 0.0292 0.0002 0.0281 0.0575 0.0348 0.0261 0.0323 0.0088 0.0263 0.0199 0 0.0295 0.0502 0.0397 het 950.12 124 10 102707526 . A G 950.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.958;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9709;MQ=59.40;MQ0=0;MQRankSum=-0.509;QD=7.66;ReadPosRankSum=-0.840;VQSLOD=5.3473;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,42:124:99:980,0,1948 10 102746503 102746503 C T exonic MRPL43 synonymous SNV MRPL43:NM_032112:exon3:c.G468A:p.V156V 0.35 0.39 0.29 0.53 0.18 0.34 0.2678 0.3619 0.3723 0.5538 0.1783 0.2001 0.2406 0.2964 0.26 0.35 0.21 0.38 0.16 rs2863095 COSM4417397 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2671 0.3582 0.3718 0.1378 0.5504 0.1758 0.2027 0.2454 0.2928 0.2634 0.3555 0.3317 0.1656 0.5659 0.1743 0.1996 0.2152 het 1208.82 114 10 102746503 . C T 1208.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.754;DP=114;Dels=0.00;FS=4.736;HRun=0;HaplotypeScore=5.1174;MQ=58.75;MQ0=0;MQRankSum=-0.201;QD=10.60;ReadPosRankSum=-0.248;VQSLOD=4.9683;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,47:114:99:1239,0,1822 10 102766574 102766574 A G exonic LZTS2 synonymous SNV LZTS2:NM_001318101:exon3:c.A999G:p.A333A,LZTS2:NM_001318099:exon5:c.A1659G:p.A553A,LZTS2:NM_001318100:exon5:c.A1659G:p.A553A,LZTS2:NM_032429:exon5:c.A1659G:p.A553A 0.37 0.39 0.33 0.54 0.23 0.33 0.3130 0.3703 0.3903 0.5555 0.2259 0.2641 0.2975 0.3148 0.27 0.33 0.24 0.41 0.082 rs807024 COSM3722442 2(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2922 0.3377 0.3792 0.1962 0.5494 0.1933 0.2388 0.2711 0.2823 0.2930 0.3546 0.3624 0.2450 0.5781 0.2090 0.2455 0.2551 het 195.92 22 10 102766574 . A G 195.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.401;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-0.200;QD=8.91;ReadPosRankSum=-0.401;VQSLOD=5.7846;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,9:22:99:226,0,347 10 103298099 103298099 G T exonic BTRC nonsynonymous SNV BTRC:NM_001256856:exon12:c.G1549T:p.A517S,BTRC:NM_003939:exon12:c.G1519T:p.A507S,BTRC:NM_033637:exon13:c.G1627T:p.A543S 0.014 0.0061 0.019 . 0.045 0.0031 0.0286 0.0086 0.0176 0 0.0301 0.0419 0.0242 0.0096 0.035 0.011 0.048 . 0.025 rs4151060 . . . . . . . . . . . . . 0.469 0.085 T 0.0 0.144 B 0.003 0.220 B 0.000 0.843 D 1 0.810 D -0.17 0.043 N 1.33 0.591 T -0.25 0.110 N 0.202 0.248 -1.064 0.107 T 0.022 0.093 T . . . 2.806 0.398 21.4 0.973 0.328 0.994 0.949 D c -0.013 0.261 1.000 0.747 0.732 0.924 0 5.86 0.939 9.574 0.973 1.048 0.713 1.000 0.715 0.997 0.653 20.186 0.982 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.0293 0.0088 0.0198 0.0024 0 0.0297 0.0473 0.0323 0.0085 0.0289 0.0081 0.0203 0.0066 0 0.0295 0.0448 0.0295 het 1806.44 172 10 103298099 . G T 1806.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.746;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1699;MQ=59.08;MQ0=0;MQRankSum=1.550;QD=10.50;ReadPosRankSum=0.627;VQSLOD=4.1418;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,75:172:99:1836,0,2512 10 103900729 103900729 G A exonic PPRC1 nonsynonymous SNV PPRC1:NM_001288727:exon5:c.G2464A:p.V822I,PPRC1:NM_001288728:exon5:c.G2104A:p.V702I,PPRC1:NM_015062:exon5:c.G2464A:p.V822I 0.077 0.2 0.062 . 0.066 0.014 0.0626 0.1753 0.0314 0.0002 0.0888 0.0647 0.0661 0.0272 0.097 0.17 0.06 0.13 0.033 rs61731871 . . . . . . . . . . . . . 0.042 0.416 D 0.049 0.231 B 0.023 0.241 B 0.000 0.002 N 1 0.090 P 1.625 0.417 L 1.77 0.258 T -0.43 0.144 N 0.026 0.008 -1.026 0.219 T 0.000 0.000 T . . . 0.094 0.103 3.542 0.782 0.118 0.118 0.167 N c -1.389 -1.449 0.995 0.338 0.707 0.730 0 -5.61 0.023 -0.796 0.046 -0.733 0.036 0.008 0.178 0.049 0.163 1.940 0.031 . ENSG00000166189.6|ENSG00000120029.8 Whole_Blood|Whole_Blood 0.0590 0.1815 0.0324 0.0992 0.0003 0.0851 0.0586 0.0684 0.0277 0.0885 0.1724 0.0467 0.0728 0.0006 0.0910 0.0525 0.0695 het 1933.25 170 10 103900729 . G A 1933.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.084;DP=170;Dels=0.00;FS=5.644;HRun=0;HaplotypeScore=8.2052;MQ=59.67;MQ0=0;MQRankSum=0.806;QD=11.37;ReadPosRankSum=-0.221;VQSLOD=4.1719;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,78:170:99:1963,0,2488 10 103920475 103920475 T C exonic NOLC1 nonsynonymous SNV NOLC1:NM_001284388:exon10:c.T1396C:p.S466P,NOLC1:NM_001284389:exon10:c.T1369C:p.S457P,NOLC1:NM_004741:exon10:c.T1366C:p.S456P 0.18 0.55 0.11 0.001 0.082 0.037 0.1075 0.4740 0.0521 0.0025 0.0922 0.0869 0.0951 0.0608 0.21 0.46 0.085 0.29 0.09 rs1049455 . . . . . . . . . . . . . 0.338 0.128 T 0.0 0.026 B 0.0 0.013 B 0.130 0.187 N 1 0.090 P 0.805 0.203 L 0.77 0.496 T -0.88 0.238 N 0.048 0.032 -0.908 0.471 T 0.000 0.000 T . . . -0.193 0.077 1.133 0.542 0.050 0.119 0.168 N c -1.368 -1.368 1.000 0.747 0.672 0.522 0 -0.492 0.114 -0.413 0.071 -0.406 0.061 0.000 0.063 0.035 0.152 5.276 0.149 . ENSG00000198728.6|ENSG00000166189.6 Whole_Blood|Whole_Blood 0.0979 0.4832 0.0562 0.1362 0.0026 0.0877 0.0811 0.0992 0.0610 0.1844 0.4670 0.0823 0.1126 0.0012 0.0950 0.0741 0.0890 het 1768.72 110 10 103920475 . T C 1768.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.404;DP=110;Dels=0.00;FS=1.656;HRun=1;HaplotypeScore=2.8586;MQ=59.83;MQ0=0;MQRankSum=-0.671;QD=16.08;ReadPosRankSum=-0.568;VQSLOD=6.0616;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,58:110:99:1799,0,1423 10 103991381 103991381 G A exonic PITX3 synonymous SNV PITX3:NM_005029:exon3:c.C285T:p.I95I 0.66 0.78 0.63 0.77 0.6 0.5 0.6470 0.7634 0.6181 0.7828 0.6633 0.6386 0.6244 0.5489 0.66 0.75 0.62 0.54 0.52 rs2281983 . . Benign not_specified RCV000177223.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6159 0.7503 0.5814 0.5695 0.7732 0.6163 0.6161 0.6047 0.5160 0.6658 0.7523 0.5742 0.5563 0.7506 0.6224 0.6280 0.6037 hom 679.54 23 10 103991381 . G A 679.54 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.79;MQ0=0;QD=29.55;VQSLOD=8.6392;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.15:713,57,0 10 104126188 104126188 C T exonic GBF1 synonymous SNV GBF1:NM_001199378:exon19:c.C2358T:p.Y786Y,GBF1:NM_001199379:exon19:c.C2355T:p.Y785Y,GBF1:NM_004193:exon19:c.C2355T:p.Y785Y 0.004 . 0.0014 . 0.014 0.0051 0.0129 0.0012 0.0021 0 0.0612 0.0150 0.0121 0.0068 0.0079 0.0007 0.012 0.011 0.0082 rs147857323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0132 0.0012 0.0012 0.0114 0 0.0617 0.0128 0.0117 0.0067 0.0165 0.0018 0.0024 0.0099 0 0.0650 0.0164 0.0163 het 1708.02 169 10 104126188 . C T 1708.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.183;DP=169;Dels=0.00;FS=4.564;HRun=0;HaplotypeScore=1.7608;MQ=58.49;MQ0=0;MQRankSum=2.774;QD=10.11;ReadPosRankSum=-1.184;VQSLOD=2.5773;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,72:169:99:1738,0,2629 10 104136469 104136469 T C exonic GBF1 synonymous SNV GBF1:NM_001199378:exon32:c.T4200C:p.I1400I,GBF1:NM_001199379:exon32:c.T4197C:p.I1399I,GBF1:NM_004193:exon32:c.T4197C:p.I1399I 1. 0.99 1. 1. 1. 1. 0.9988 0.9866 0.9998 1 1 0.9999 1 0.9998 1. 0.99 1. 0.99 1. rs2180707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9858 0.9996 1 1 1 0.9999 0.9995 0.9997 0.9962 0.9869 0.9952 1 1 1 0.9999 1 hom 4021.12 129 10 104136469 . T C 4021.12 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;QD=31.17;VQSLOD=8.9572;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4020,346,0 10 104160434 104160434 A G exonic NFKB2 synonymous SNV NFKB2:NM_001261403:exon16:c.A1821G:p.A607A,NFKB2:NM_001322935:exon16:c.A1695G:p.A565A,NFKB2:NM_001077494:exon17:c.A1821G:p.A607A,NFKB2:NM_001288724:exon17:c.A1821G:p.A607A,NFKB2:NM_001322934:exon17:c.A1821G:p.A607A,NFKB2:NM_002502:exon17:c.A1821G:p.A607A 0.99 0.95 0.99 1. 1. 1. 0.9968 0.9629 0.9988 1 1 0.9998 1 1 0.99 0.97 1. 0.66 1. rs4919634 COSM4144306 1(thyroid) Benign not_specified RCV000454491.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9622 0.9979 0.9998 1 1 0.9997 0.9980 1.0000 0.9894 0.9636 0.9952 1 1 1 0.9998 0.9969 hom 2006.79 65 10 104160434 . A G 2006.79 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.87;VQSLOD=14.1434;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2040,168,0 10 104160959 104160959 C T exonic NFKB2 synonymous SNV NFKB2:NM_001261403:exon18:c.C2094T:p.N698N,NFKB2:NM_001322935:exon18:c.C1968T:p.N656N,NFKB2:NM_001077494:exon19:c.C2094T:p.N698N,NFKB2:NM_001288724:exon19:c.C2094T:p.N698N,NFKB2:NM_001322934:exon19:c.C2094T:p.N698N,NFKB2:NM_002502:exon19:c.C2094T:p.N698N 0.032 0.0053 0.025 0.056 0.047 0.033 0.0419 0.0083 0.0234 0.0530 0.0469 0.0474 0.0380 0.0456 0.037 0.01 0.05 0.033 0.033 rs11574851 COSM4144307 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0426 0.0083 0.0260 0.0405 0.0540 0.0478 0.0504 0.0459 0.0398 0.0356 0.0091 0.0227 0.0331 0.0532 0.0501 0.0454 0.0521 het 1185.49 101 10 104160959 . C T 1185.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.430;DP=101;Dels=0.00;FS=2.648;HRun=0;HaplotypeScore=0.7887;MQ=59.51;MQ0=0;MQRankSum=-1.189;QD=11.74;ReadPosRankSum=-1.913;VQSLOD=5.6976;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,50:101:99:1215,0,1257 10 104229785 104229785 C T exonic MFSD13A synonymous SNV MFSD13A:NM_024789:exon4:c.C204T:p.P68P 0.41 0.37 0.37 0.31 0.56 0.44 0.4778 0.3845 0.2850 0.3111 0.5146 0.5433 0.4834 0.4793 0.49 0.38 0.55 0.47 0.48 rs41306870 COSM4144309;COSM4144310 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4753 0.3733 0.2964 0.6602 0.3216 0.5181 0.5401 0.5137 0.4752 0.4766 0.3770 0.3648 0.6854 0.3499 0.5238 0.5370 0.5123 hom 3092.47 103 10 104229785 . C T 3092.47 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59.40;MQ0=0;QD=30.02;VQSLOD=8.6003;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3125,244,0 10 104231054 104231054 A G exonic MFSD13A synonymous SNV MFSD13A:NM_024789:exon6:c.A729G:p.V243V 0.41 0.37 0.37 0.31 0.56 0.44 0.4784 0.3851 0.2862 0.3124 0.5171 0.5439 0.4790 0.4784 0.49 0.38 0.55 0.47 0.45 rs11191295 COSM4144312;COSM4144311 1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4758 0.3752 0.2971 0.6603 0.3219 0.5186 0.5406 0.5142 0.4752 0.4773 0.3779 0.3652 0.6833 0.3517 0.5241 0.5376 0.5144 hom 2180.72 64 10 104231054 . A G 2180.72 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.6651;MQ=57.80;MQ0=0;QD=34.07;VQSLOD=8.3370;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2214,175,0 10 104596924 104596924 C A exonic CYP17A1 synonymous SNV CYP17A1:NM_000102:exon1:c.G195T:p.S65S 0.41 0.33 0.42 0.59 0.39 0.35 0.3974 0.3653 0.4016 0.5648 0.3721 0.3914 0.4053 0.3614 0.38 0.36 0.39 0.4 0.38 rs6163 COSM3751499 2(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) Benign Congenital_adrenal_hyperplasia RCV000366126.1 MedGen:Orphanet:SNOMED_CT C0001627:ORPHA418:237751000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3971 0.3675 0.3971 0.3961 0.5665 0.3665 0.3919 0.3924 0.3593 0.4008 0.3645 0.3962 0.4470 0.5989 0.3584 0.4089 0.4180 hom 4216.69 134 10 104596924 . C A 4216.69 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7108;MQ=58.73;MQ0=0;QD=31.47;VQSLOD=8.9039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,133:134:99:4216,325,0 10 104596981 104596981 G A exonic CYP17A1 synonymous SNV CYP17A1:NM_000102:exon1:c.C138T:p.H46H 0.44 0.32 0.42 0.59 0.41 0.5 0.4248 0.3684 0.4084 0.5658 0.3778 0.4092 0.4394 0.4790 0.39 0.36 0.41 0.4 0.4 rs6162 COSM3751500 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Congenital_adrenal_hyperplasia RCV000403468.1 MedGen:Orphanet:SNOMED_CT C0001627:ORPHA418:237751000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4233 0.3702 0.4041 0.4309 0.5679 0.3718 0.4094 0.4143 0.4762 0.4116 0.3683 0.4117 0.4735 0.5963 0.3645 0.4254 0.4305 hom 3911.80 122 10 104596981 . G A 3911.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.703;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9868;MQ=58.74;MQ0=0;MQRankSum=1.560;QD=32.06;ReadPosRankSum=1.703;VQSLOD=7.5522;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,121:122:99:3885,286,0 10 104814162 104814162 T C exonic CNNM2 synonymous SNV CNNM2:NM_017649:exon3:c.T1842C:p.S614S,CNNM2:NM_199076:exon3:c.T1842C:p.S614S 0.43 0.33 0.41 0.59 0.41 0.44 0.4199 0.3725 0.4202 0.5645 0.3848 0.4110 0.4275 0.4223 0.39 0.36 0.41 0.37 . rs2275271 COSM4415177 1(breast);1(haematopoietic_and_lymphoid_tissue) Benign Renal_Hypomagnesemia\x2c_Dominant RCV000405044.1 MedGen CN239436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4174 0.3736 0.4158 0.4287 0.5657 0.3741 0.4084 0.4147 0.4191 0.4148 0.3734 0.4077 0.4768 0.5965 0.3698 0.4288 0.4160 hom 3786.70 119 10 104814162 . T C 3786.70 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5343;MQ=58.23;MQ0=0;QD=31.82;VQSLOD=5.6201;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,117:119:99:3755,304,0 10 104835919 104835919 C T exonic CNNM2 synonymous SNV CNNM2:NM_199076:exon6:c.C2244T:p.A748A,CNNM2:NM_017649:exon7:c.C2310T:p.A770A 0.15 0.022 0.19 0.29 0.088 0.22 0.1585 0.0444 0.2955 0.3226 0.0943 0.1172 0.1609 0.2270 0.07 0.037 0.086 0.054 . rs943037 COSM3997742 2(haematopoietic_and_lymphoid_tissue) Benign Renal_Hypomagnesemia\x2c_Dominant RCV000300348.1 MedGen CN239436 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1241 0.0336 0.2041 0.0739 0.2732 0.0780 0.0854 0.1076 0.1919 0.0862 0.0366 0.1730 0.0662 0.2800 0.0745 0.0908 0.1135 het 565.42 43 10 104835919 . C T 565.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.371;DP=43;Dels=0.00;FS=3.029;HRun=0;HaplotypeScore=1.6988;MQ=59.46;MQ0=0;MQRankSum=-0.352;QD=13.15;ReadPosRankSum=-0.377;VQSLOD=6.3528;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,21:43:99:595,0,504 10 104849468 104849468 G A exonic NT5C2 synonymous SNV NT5C2:NM_001351181:exon16:c.C1074T:p.D358D,NT5C2:NM_001351174:exon17:c.C1560T:p.D520D,NT5C2:NM_001351183:exon17:c.C1074T:p.D358D,NT5C2:NM_001351191:exon17:c.C1074T:p.D358D,NT5C2:NM_001134373:exon18:c.C1647T:p.D549D,NT5C2:NM_001351176:exon18:c.C1074T:p.D358D,NT5C2:NM_001351180:exon18:c.C1074T:p.D358D,NT5C2:NM_001351192:exon18:c.C1074T:p.D358D,NT5C2:NM_001351194:exon18:c.C933T:p.D311D,NT5C2:NM_001351169:exon19:c.C1647T:p.D549D,NT5C2:NM_001351170:exon19:c.C1671T:p.D557D,NT5C2:NM_001351173:exon19:c.C1671T:p.D557D,NT5C2:NM_001351177:exon19:c.C1074T:p.D358D,NT5C2:NM_001351184:exon19:c.C1074T:p.D358D,NT5C2:NM_001351185:exon19:c.C1074T:p.D358D,NT5C2:NM_001351188:exon19:c.C1074T:p.D358D,NT5C2:NM_001351189:exon19:c.C1074T:p.D358D,NT5C2:NM_001351190:exon19:c.C1074T:p.D358D,NT5C2:NM_001351193:exon19:c.C1074T:p.D358D,NT5C2:NM_012229:exon19:c.C1647T:p.D549D,NT5C2:NM_001351171:exon20:c.C1671T:p.D557D,NT5C2:NM_001351172:exon20:c.C1671T:p.D557D,NT5C2:NM_001351175:exon20:c.C1554T:p.D518D,NT5C2:NM_001351179:exon20:c.C1074T:p.D358D,NT5C2:NM_001351182:exon20:c.C1074T:p.D358D,NT5C2:NM_001351195:exon20:c.C933T:p.D311D,NT5C2:NM_001351197:exon20:c.C1074T:p.D358D,NT5C2:NM_001351178:exon21:c.C1074T:p.D358D,NT5C2:NM_001351186:exon21:c.C1074T:p.D358D,NT5C2:NM_001351196:exon21:c.C933T:p.D311D,NT5C2:NM_001351187:exon22:c.C1074T:p.D358D 0.42 0.34 0.41 0.5 0.41 0.46 0.4171 0.3805 0.4199 0.4703 0.3766 0.4100 0.4256 0.4570 0.4 0.37 0.41 0.34 . rs3740387 COSM5432865;COSM5432866 1(oesophagus) Benign not_specified RCV000424317.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4123 0.3840 0.4154 0.4261 0.4744 0.3678 0.4068 0.4101 0.4367 0.4122 0.3846 0.4067 0.4735 0.5211 0.3635 0.4270 0.4102 hom 2834.41 92 10 104849468 . G A 2834.41 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.59;MQ0=0;QD=30.81;VQSLOD=9.4788;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2867,223,0 10 104934709 104934709 T C exonic NT5C2 nonsynonymous SNV NT5C2:NM_001134373:exon2:c.A7G:p.T3A,NT5C2:NM_001351170:exon2:c.A7G:p.T3A,NT5C2:NM_001351173:exon2:c.A7G:p.T3A,NT5C2:NM_001351169:exon3:c.A7G:p.T3A,NT5C2:NM_001351171:exon3:c.A7G:p.T3A,NT5C2:NM_001351172:exon3:c.A7G:p.T3A,NT5C2:NM_012229:exon3:c.A7G:p.T3A 0.077 0.0098 0.073 0.15 0.14 0.028 0.1138 0.0304 0.0707 0.1401 0.1645 0.1450 0.1178 0.0363 0.11 0.034 0.15 0.065 0.16 rs10883841 . . Benign not_specified RCV000441591.1 MedGen CN169374 . . . . . . 0.055 0.384 T 0.004 0.112 B 0.001 0.040 B 0.000 0.843 D 0.001 0.454 P 0.695 0.181 N 2.27 0.174 T -0.37 0.132 N 0.188 0.347 -1.037 0.183 T 0.000 0.001 T . . . 1.913 0.291 15.67 0.989 0.471 0.948 0.620 D c -0.100 0.098 1.000 0.747 0.732 0.924 0 5.3 0.746 5.617 0.672 1.007 0.626 1.000 0.715 0.998 0.697 14.224 0.652 . ENSG00000076685.14|ENSG00000221767.1|ENSG00000076685.14|ENSG00000214435.3|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000214435.3|ENSG00000221767.1|ENSG00000221767.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.1179 0.0300 0.0814 0.1514 0.1457 0.1587 0.1464 0.1226 0.0394 0.1218 0.0316 0.0885 0.1921 0.1685 0.1559 0.1614 0.1263 het 2119.75 168 10 104934709 . T C 2119.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.552;DP=168;DS;Dels=0.00;FS=0.632;HRun=0;HaplotypeScore=6.5987;MQ=58.51;MQ0=0;MQRankSum=0.461;QD=12.62;ReadPosRankSum=-0.826;VQSLOD=5.0247;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,79:168:99:2150,0,2109 10 105194086 105194086 C T exonic PDCD11 nonsynonymous SNV PDCD11:NM_014976:exon24:c.C3646T:p.L1216F 0.48 0.48 0.4 0.42 0.42 0.64 0.4291 0.4546 0.3715 0.4138 0.4349 0.3969 0.4515 0.5886 0.41 0.45 0.39 0.45 0.41 rs2986014 COSM3747125 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.354 N 1.000 0.090 P -0.895 0.014 N 2.26 0.176 T -0.13 0.090 N 0.049 0.030 -0.926 0.447 T 0.000 0.000 T . . . 1.524 0.245 13.44 0.111 0.002 0.028 0.075 N c -0.901 -0.704 0.994 0.335 0.707 0.730 0 5.23 0.725 1.430 0.343 0.154 0.240 0.900 0.312 0.825 0.345 5.226 0.146 Nucleic acid-binding\x2c OB-fold|RNA-binding domain\x2c S1|S1 domain ENSG00000138172.6|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000138172.6|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000138172.6|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000148843.9|ENSG00000221767.1|ENSG00000138172.6|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000138172.6|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000138172.6|ENSG00000221767.1|ENSG00000221767.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.4286 0.4594 0.3739 0.3958 0.4154 0.4522 0.3981 0.4134 0.5869 0.4236 0.4550 0.3660 0.3775 0.3975 0.4610 0.4034 0.4251 het 2190.51 181 10 105194086 . C T 2190.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.789;DP=181;Dels=0.00;FS=11.283;HRun=1;HaplotypeScore=1.8640;MQ=59.67;MQ0=0;MQRankSum=-0.315;QD=12.10;ReadPosRankSum=-1.991;VQSLOD=4.0064;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:100,81:181:99:2220,0,2742 10 105205302 105205302 A C exonic PDCD11 nonsynonymous SNV PDCD11:NM_014976:exon36:c.A5612C:p.D1871A 0.38 0.29 0.38 0.32 0.4 0.52 0.3787 0.3020 0.3499 0.3139 0.4224 0.3711 0.4045 0.4917 0.34 0.29 0.37 0.29 0.29 rs7831 COSM4144322 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.243 0.293 B 0.079 0.272 B 0.043 0.238 N 0.928 0.271 P 0.69 0.170 N 2.75 0.116 T -1.05 0.275 N 0.18 0.219 -0.902 0.478 T 0.000 0.000 T . . . 5.221 0.705 25.6 0.994 0.636 0.802 0.396 D c -0.268 -0.114 1.000 0.500 0.646 0.442 0 2.85 0.322 1.356 0.335 1.199 0.960 0.998 0.411 0.785 0.331 3.667 0.077 . ENSG00000138172.6|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000138172.6|ENSG00000221767.1|ENSG00000273485.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000138172.6|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000138172.6|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1|ENSG00000221767.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.3793 0.2963 0.3470 0.3506 0.3132 0.4395 0.3716 0.3655 0.4882 0.3574 0.3000 0.3294 0.3433 0.3188 0.4461 0.3739 0.3912 het 1121.33 63 10 105205302 . A C 1121.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.907;DP=63;Dels=0.00;FS=1.179;HRun=1;HaplotypeScore=3.7387;MQ=59.34;MQ0=0;MQRankSum=-0.230;QD=17.80;ReadPosRankSum=0.175;VQSLOD=5.7430;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,37:63:99:1151,0,645 10 105218252 105218252 A G exonic CALHM1 nonsynonymous SNV CALHM1:NM_001001412:exon1:c.T257C:p.L86P 0.87 0.97 0.83 0.88 0.74 0.89 0.7882 0.9337 0.8424 0.8862 0.7950 0.7224 0.7989 0.8677 0.8 0.93 0.73 0.45 0.66 rs2986017 COSM4144323 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.286 0.152 T 0.0 0.026 B 0.0 0.013 B 0.525 0.117 N 1 0.090 P -0.345 0.033 N 2.2 0.186 T -0.05 0.078 N 0.065 0.051 -1.055 0.131 T 0.000 0.000 T . . . -0.430 0.060 0.327 0.683 0.084 0.006 0.027 N c -1.229 -1.170 0.999 0.376 0.616 0.391 0 1.38 0.212 0.156 0.161 0.041 0.156 0.000 0.063 0.046 0.161 4.797 0.126 . . . 0.7893 0.9372 0.8374 0.7368 0.8846 0.7935 0.7232 0.7713 0.8653 0.8003 0.9255 0.7978 0.7119 0.8644 0.8076 0.7231 0.7638 het 621.29 49 10 105218252 . A G 621.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.038;DP=49;Dels=0.00;FS=2.687;HRun=1;HaplotypeScore=1.5572;MQ=60.00;MQ0=0;MQRankSum=-2.493;QD=12.68;ReadPosRankSum=1.376;VQSLOD=3.9657;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,26:49:99:651,0,568 10 105218359 105218359 T C exonic CALHM1 synonymous SNV CALHM1:NM_001001412:exon1:c.A150G:p.A50A 0.88 0.98 0.84 0.88 0.77 0.9 0.8109 0.9427 0.8560 0.8876 0.8189 0.7544 0.8135 0.8805 0.82 0.94 0.76 0.85 0.8 rs2986018 COSM3751506 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8116 0.9464 0.8512 0.7506 0.8854 0.8160 0.7562 0.7999 0.8792 0.8248 0.9380 0.8162 0.7152 0.8639 0.8330 0.7575 0.7930 het 1456.54 108 10 105218359 . T C 1456.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.997;DP=108;Dels=0.00;FS=0.718;HRun=1;HaplotypeScore=1.6567;MQ=59.56;MQ0=0;MQRankSum=0.160;QD=13.49;ReadPosRankSum=-1.212;VQSLOD=6.5983;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,57:108:99:1487,0,1340 10 105361816 105361816 T G exonic SH3PXD2A synonymous SNV SH3PXD2A:NM_014631:exon14:c.A3075C:p.I1025I 0.88 0.88 0.88 1. 0.75 0.89 0.8214 0.8664 0.9190 0.9992 0.7454 0.7650 0.8201 0.8944 0.8 0.86 0.77 0.89 0.84 rs4918031 COSM4144326 1(kidney);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8231 0.8658 0.9051 0.8021 0.9992 0.7413 0.7644 0.8163 0.8911 0.7972 0.8553 0.8849 0.7715 0.9975 0.7363 0.7529 0.7771 het 2181.01 170 10 105361816 . T G 2181.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.628;DP=170;Dels=0.00;FS=3.593;HRun=3;HaplotypeScore=4.8781;MQ=59.73;MQ0=0;MQRankSum=0.003;QD=12.83;ReadPosRankSum=-1.315;VQSLOD=4.1682;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,85:170:99:2211,0,2253 10 105362104 105362104 G A exonic SH3PXD2A synonymous SNV SH3PXD2A:NM_014631:exon14:c.C2787T:p.F929F 0.32 0.11 0.36 0.35 0.35 0.53 0.3597 0.1517 0.3671 0.3492 0.2273 0.3606 0.3318 0.5421 0.29 0.16 0.35 0.25 0.37 rs11191741 COSM1287882 1(haematopoietic_and_lymphoid_tissue);1(autonomic_ganglia) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3577 0.1484 0.3620 0.4270 0.3582 0.2267 0.3562 0.3539 0.5349 0.2722 0.1426 0.3321 0.4073 0.3296 0.2410 0.3398 0.3186 het 1990.10 136 10 105362104 . G A 1990.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.139;DP=136;Dels=0.00;FS=1.834;HRun=2;HaplotypeScore=2.9892;MQ=59.04;MQ0=0;MQRankSum=-0.490;QD=14.63;ReadPosRankSum=0.268;VQSLOD=6.3032;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,70:136:99:2020,0,1731 10 105362209 105362209 T C exonic SH3PXD2A synonymous SNV SH3PXD2A:NM_014631:exon14:c.A2682G:p.K894K 0.91 0.97 0.89 1. 0.76 0.91 0.8390 0.9446 0.9252 0.9994 0.7463 0.7781 0.8381 0.9108 0.83 0.94 0.78 0.94 0.84 rs4917396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8371 0.9472 0.9114 0.8230 0.9994 0.7425 0.7754 0.8288 0.9089 0.8286 0.9395 0.9055 0.7980 0.9988 0.7395 0.7644 0.8020 het 3014.15 231 10 105362209 . T C 3014.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.691;DP=231;DS;Dels=0.00;FS=7.254;HRun=0;HaplotypeScore=7.2070;MQ=59.41;MQ0=0;MQRankSum=0.488;QD=13.05;ReadPosRankSum=0.660;VQSLOD=4.6678;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:119,111:231:99:3044,0,3186 10 105657316 105657316 G C exonic STN1 nonsynonymous SNV STN1:NM_024928:exon7:c.C743G:p.S248C 0.87 0.64 0.92 1. 0.91 0.99 0.9071 0.6709 0.9497 1 0.9221 0.9037 0.9196 0.9841 0.82 0.68 0.9 0.8 0.89 rs10786775 . . . . . . . . . . . . . 0.244 0.174 T 0.0 0.026 B 0.0 0.013 B 0.259 0.153 N 1 0.090 P -1.115 0.009 N 0.8 0.488 T 0.86 0.017 N 0.064 0.049 -1.027 0.214 T 0.000 0.000 T . . . -0.346 0.065 0.521 0.311 0.017 0.003 0.018 N c -1.457 -1.383 1.000 0.747 0.719 0.830 0 1.39 0.212 -0.267 0.086 -1.287 0.014 0.000 0.063 0.000 0.016 6.936 0.235 CST complex subunit Stn1\x2c C-terminal|Winged helix-turn-helix DNA-binding domain . . 0.9122 0.6684 0.9450 0.9078 0.9999 0.9186 0.9022 0.9181 0.9805 0.8433 0.6653 0.9462 0.8709 1 0.9201 0.9001 0.9257 hom 2866.12 93 10 105657316 . G C 2866.12 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.25;MQ0=0;QD=30.82;VQSLOD=8.4688;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,92:93:99:2899,217,0 10 105657363 105657363 C G exonic STN1 synonymous SNV STN1:NM_024928:exon7:c.G696C:p.V232V 0.19 0.2 0.2 0.16 0.25 0.12 0.2004 0.2094 0.1952 0.1593 0.2224 0.2221 0.1982 0.1235 0.23 0.22 0.23 0.21 0.24 rs11191853 COSM3751512 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2028 0.2114 0.2035 0.2310 0.1594 0.2183 0.2244 0.2169 0.1207 0.2118 0.1996 0.2041 0.2053 0.1702 0.2250 0.2201 0.2240 het 1016.85 97 10 105657363 . C G 1016.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.429;DP=97;Dels=0.00;FS=2.706;HRun=0;HaplotypeScore=5.5297;MQ=59.42;MQ0=0;MQRankSum=0.011;QD=10.48;ReadPosRankSum=0.537;VQSLOD=5.0682;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,41:97:99:1047,0,1522 10 105659826 105659826 T C exonic STN1 nonsynonymous SNV STN1:NM_024928:exon5:c.A451G:p.T151A 0.87 0.64 0.92 1. 0.91 0.99 0.9072 0.6711 0.9496 1 0.9221 0.9039 0.9196 0.9841 0.82 0.68 0.9 0.83 0.89 rs2487999 . . . . . . . . . . . . . 0.672 0.045 T 0.0 0.026 B 0.001 0.040 B 0.501 0.051 N 1 0.090 P 0.65 0.162 N 2.01 0.213 T -0.39 0.136 N 0.062 0.047 -0.971 0.370 T 0.000 0.000 T . . . -0.094 0.085 1.777 0.715 0.093 0.010 0.038 N c -1.255 -1.265 1.000 0.500 0.732 0.924 0 -3.08 0.050 -1.540 0.023 -1.323 0.013 0.000 0.063 0.011 0.114 13.759 0.623 Nucleic acid-binding\x2c OB-fold|OB-fold nucleic acid binding domain\x2c AA-tRNA synthetase-type . . 0.9123 0.6685 0.9450 0.9078 0.9999 0.9186 0.9023 0.9182 0.9805 0.8432 0.6650 0.9463 0.8709 1 0.9196 0.9001 0.9257 hom 4340.25 150 10 105659826 . T C 4340.25 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8136;MQ=59.60;MQ0=0;QD=28.93;VQSLOD=8.2702;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4340,328,0 10 105762591 105762591 G A exonic SLK nonsynonymous SNV SLK:NM_001304743:exon9:c.G1655A:p.C552Y,SLK:NM_014720:exon9:c.G1655A:p.C552Y 0.21 0.36 0.21 0.096 0.17 0.16 0.1857 0.3171 0.2114 0.0791 0.2213 0.1731 0.1806 0.1780 0.21 0.31 0.17 0.22 0.15 rs805657 COSM3751513 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.292 0.149 T 0.001 0.067 B 0.0 0.013 B 0.216 0.034 N 1 0.090 P -0.345 0.033 N -0.29 0.677 T 0.06 0.063 N 0.018 0.003 -1.066 0.104 T 0.000 0.000 T . . . -1.562 0.015 0.002 0.250 0.011 0.010 0.037 N c -1.461 -1.459 0.995 0.337 0.706 0.609 0 -3.86 0.039 -0.047 0.118 -0.178 0.104 0.000 0.063 0.000 0.016 4.736 0.123 . ENSG00000065618.12 Whole_Blood 0.1836 0.3193 0.2009 0.1460 0.0764 0.2307 0.1717 0.1754 0.1801 0.2178 0.3157 0.2076 0.0960 0.0748 0.2330 0.1769 0.2045 het 1935.59 150 10 105762591 . G A 1935.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.700;DP=150;Dels=0.00;FS=3.765;HRun=0;HaplotypeScore=2.6465;MQ=59.04;MQ0=0;MQRankSum=0.882;QD=12.90;ReadPosRankSum=-0.032;VQSLOD=6.2686;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,76:150:99:1966,0,2050 10 105765745 105765745 A G exonic SLK synonymous SNV SLK:NM_001304743:exon11:c.A2556G:p.L852L,SLK:NM_014720:exon11:c.A2556G:p.L852L 0.018 0.0023 0.062 . 0.029 0.013 0.0306 0.0071 0.0509 0 0.0251 0.0384 0.0233 0.0180 0.029 0.0068 0.04 . 0.066 rs805662 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0304 0.0069 0.0449 0.0165 0 0.0260 0.0397 0.0248 0.0181 0.0291 0.0085 0.0358 0.0132 0.0006 0.0295 0.0437 0.0348 het 685.43 73 10 105765745 . A G 685.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.801;DP=73;Dels=0.00;FS=4.676;HRun=0;HaplotypeScore=8.8167;MQ=57.95;MQ0=0;MQRankSum=-0.278;QD=9.39;ReadPosRankSum=0.244;VQSLOD=3.2501;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,28:73:99:715,0,1121 10 105796819 105796819 A G exonic COL17A1 synonymous SNV COL17A1:NM_000494:exon47:c.T3261C:p.I1087I 0.99 0.95 1. 1. 1. 1. 0.9964 0.9578 0.9990 1 1 1 0.9988 1 0.99 0.96 1. 0.99 1. rs2476958 . . Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000252056.1|RCV000288544.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9971 0.9558 0.9987 1 1 1 1.0000 0.9989 0.9999 0.9874 0.9559 0.9988 1 1 1 0.9998 0.9990 hom 1423.54 44 10 105796819 . A G 1423.54 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=32.35;VQSLOD=9.4436;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1457,111,0 10 105798872 105798872 T C exonic COL17A1 synonymous SNV COL17A1:NM_000494:exon44:c.A2904G:p.P968P 0.68 0.44 0.77 0.77 0.82 0.71 0.7768 0.4992 0.7837 0.8055 0.7839 0.8271 0.7870 0.7250 0.72 0.51 0.83 0.65 0.66 rs2274100 COSM3751514 2(large_intestine) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000242121.1|RCV000339063.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7819 0.4918 0.7878 0.8175 0.8041 0.7712 0.8304 0.8057 0.7233 0.7260 0.4989 0.7852 0.8775 0.8189 0.7691 0.8277 0.7869 het 1231.50 133 10 105798872 . T C 1231.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.308;DP=133;Dels=0.00;FS=0.750;HRun=2;HaplotypeScore=3.2442;MQ=59.40;MQ0=0;MQRankSum=-0.122;QD=9.26;ReadPosRankSum=-0.168;VQSLOD=6.3049;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,53:133:99:1261,0,2343 10 105799216 105799216 G T exonic COL17A1 synonymous SNV COL17A1:NM_000494:exon43:c.C2883A:p.P961P 0.68 0.41 0.77 0.82 0.82 0.71 0.7769 0.4808 0.7818 0.8593 0.7834 0.8251 0.7892 0.7185 0.72 0.49 0.83 0.65 0.83 rs2296219 COSM3751515 2(large_intestine) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000250170.1|RCV000393118.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7822 0.4733 0.7861 0.8007 0.8568 0.7706 0.8294 0.8063 0.7168 0.7228 0.4802 0.7828 0.8633 0.8639 0.7683 0.8278 0.7848 het 1330.67 108 10 105799216 . G T 1330.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.831;DP=108;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.3479;MQ=59.38;MQ0=0;MQRankSum=0.652;QD=12.32;ReadPosRankSum=-1.945;VQSLOD=6.0606;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,51:108:99:1361,0,1597 10 105810400 105810400 T C exonic COL17A1 nonsynonymous SNV COL17A1:NM_000494:exon27:c.A2107G:p.M703V 0.69 0.47 0.8 0.77 0.81 0.73 0.7803 0.5263 0.8279 0.7900 0.7575 0.8191 0.7952 0.7538 0.72 0.53 0.82 0.63 0.86 rs805722 COSM1178415 1(prostate) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000249875.1|RCV000390866.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . 0.521 0.072 T 0.0 0.026 B 0.001 0.040 B 0.071 0.215 N 1.000 0.182 P -0.08 0.048 N -3.22 0.934 D -0.26 0.249 N 0.09 0.219 -0.959 0.394 T 0.000 0.000 T . . . -1.573 0.015 0.002 0.722 0.096 0.072 0.130 N c -1.358 -1.369 1.000 0.480 0.560 0.301 0 -4.21 0.035 -0.188 0.096 -0.460 0.055 0.000 0.063 0.343 0.245 7.481 0.264 . ENSG00000065621.10 Skin_Sun_Exposed_Lower_leg 0.7852 0.5193 0.8289 0.8015 0.7901 0.7463 0.8215 0.7984 0.7556 0.7248 0.5122 0.8218 0.8477 0.8002 0.7594 0.8198 0.7853 hom 5252.03 175 10 105810400 . T C 5252.03 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7207;MQ=59.87;MQ0=0;QD=30.01;VQSLOD=7.6309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,174:175:99:5252,394,0 10 105816916 105816916 C T exonic COL17A1 nonsynonymous SNV COL17A1:NM_000494:exon17:c.G1282A:p.G428S 0.82 0.49 0.94 0.88 0.98 0.94 0.9357 0.5610 0.9470 0.8875 0.9507 0.9922 0.9525 0.9475 0.85 0.57 0.99 0.67 0.96 rs805698 COSM4998795 1(pancreas);1(skin) Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000244902.1|RCV000344715.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . 0.356 0.120 T 0.001 0.067 B 0.001 0.040 B 0.940 0.076 N 1 0.090 P 0.345 0.112 N -2.67 0.903 D -0.31 0.121 N 0.057 0.040 -0.943 0.422 T 0.000 0.000 T . . . 0.408 0.133 6.680 0.724 0.096 0.074 0.132 N c -1.298 -1.254 0.993 0.328 0.497 0.185 0 1.73 0.235 0.699 0.251 -0.475 0.054 0.014 0.188 0.001 0.043 8.384 0.315 . . . 0.9400 0.5493 0.9468 0.9860 0.8882 0.9438 0.9937 0.9512 0.9452 0.8533 0.5444 0.9403 0.9901 0.8963 0.9476 0.9917 0.9550 hom 5429.36 157 10 105816916 . C T 5429.36 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4761;MQ=58.60;MQ0=0;QD=34.58;VQSLOD=9.3120;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5429,418,0 10 105819956 105819956 G A exonic COL17A1 synonymous SNV COL17A1:NM_000494:exon14:c.C1062T:p.A354A 0.55 0.25 0.69 0.69 0.66 0.62 0.6473 0.3151 0.7710 0.6937 0.6703 0.6729 0.6751 0.6315 0.56 0.32 0.67 0.49 0.7 rs805701 . . Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000246164.1|RCV000265171.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6579 0.3075 0.7599 0.6468 0.6965 0.6576 0.6770 0.6608 0.6328 0.5766 0.3077 0.7303 0.6667 0.6915 0.6691 0.6829 0.6653 hom 6445.97 203 10 105819956 . G A 6445.97 Mask AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7282;MQ=59.20;MQ0=0;QD=31.75;VQSLOD=8.6357;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6445,503,0 10 105824333 105824333 G A exonic COL17A1 nonsynonymous SNV COL17A1:NM_000494:exon10:c.C629T:p.T210M 0.56 0.28 0.71 0.67 0.68 0.62 0.6739 0.3617 0.7817 0.6933 0.6880 0.7062 0.6982 0.6419 0.59 0.35 0.7 0.51 0.69 rs805708 . . Benign|Benign not_specified|Epidermolysis_bullosa\x2c_junctional RCV000252360.1|RCV000264886.1 MedGen|MedGen:Orphanet CN169374|C0079301:ORPHA305 . . . . . . 0.069 0.355 T 1.0 0.899 D 0.947 0.667 D 0.006 0.322 N 0.617 0.330 P 1.78 0.463 L 0.46 0.563 T -2.74 0.718 D 0.489 0.536 -0.910 0.468 T 0.000 0.000 T . . . 3.629 0.493 23.2 0.994 0.648 0.834 0.422 D c 0.503 0.418 1.000 0.747 0.447 0.083 0 5.57 0.840 7.267 0.777 1.048 0.713 1.000 0.715 0.002 0.062 19.139 0.934 . ENSG00000197748.8|ENSG00000197748.8 Artery_Tibial|Nerve_Tibial 0.6767 0.3403 0.7706 0.6837 0.6913 0.6645 0.7049 0.6822 0.6358 0.6014 0.3414 0.7410 0.7053 0.6899 0.6758 0.7106 0.6806 hom 1114.37 35 10 105824333 . G A 1114.37 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.84;VQSLOD=14.1871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:90.29:1147,90,0 10 105891927 105891927 G C exonic CFAP43 nonsynonymous SNV CFAP43:NM_025145:exon36:c.C4624G:p.L1542V 0.0028 0.0015 0.0029 . 0.0099 . 0.0059 0.0016 0.0016 0.0001 0.0185 0.0079 0.0111 0.0013 0.0069 0.0014 0.0098 . 0.0082 rs117628923 . . . . . . . . . . . . . 0.533 0.069 T 0.002 0.161 B 0.007 0.162 B 0.766 0.066 N 1 0.090 N 0.85 0.213 L 2.43 0.153 T -0.92 0.247 N 0.158 0.189 -0.957 0.398 T 0.018 0.072 T . . . -0.065 0.088 2.002 0.792 0.122 0.049 0.105 N c -0.913 -0.875 0.023 0.135 0.487 0.133 0 1.65 0.229 -0.209 0.093 0.079 0.188 0.000 0.063 0.834 0.348 2.002 0.032 . . . 0.0061 0.0013 0.0017 0.0040 5.959e-05 0.0152 0.0087 0.0054 0.0013 0.0105 0.0015 0 0.0033 0 0.0146 0.0166 0.0112 het 727.61 74 10 105891927 . G C 727.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.296;DP=74;Dels=0.00;FS=2.022;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=0.263;QD=9.83;ReadPosRankSum=-0.197;VQSLOD=5.7297;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,31:74:99:758,0,1202 10 106075081 106075081 G A exonic ITPRIP synonymous SNV ITPRIP:NM_001272012:exon2:c.C729T:p.I243I,ITPRIP:NM_001272013:exon2:c.C729T:p.I243I,ITPRIP:NM_033397:exon3:c.C729T:p.I243I 0.041 0.0038 0.059 . 0.14 0.017 0.1094 0.0275 0.0440 0.0006 0.2188 0.1485 0.1378 0.0356 0.11 0.032 0.15 0.043 0.066 rs34043167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1060 0.0255 0.0458 0.0826 0.0004 0.2088 0.1541 0.1055 0.0336 0.1168 0.0257 0.0658 0.0967 0 0.2021 0.1643 0.1398 het 1420.46 106 10 106075081 . G A 1420.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.514;DP=106;Dels=0.00;FS=2.520;HRun=1;HaplotypeScore=6.7943;MQ=59.19;MQ0=0;MQRankSum=0.180;QD=13.40;ReadPosRankSum=1.103;VQSLOD=4.5632;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,54:106:99:1450,0,1395 10 106907440 106907440 C T exonic SORCS3 synonymous SNV SORCS3:NM_014978:exon9:c.C1368T:p.N456N 0.49 0.48 0.63 0.35 0.55 0.49 0.5310 0.4924 0.6207 0.3301 0.5051 0.5563 0.5286 0.5058 0.53 0.49 0.55 0.45 0.53 rs791125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5290 0.4855 0.6109 0.5196 0.3243 0.4925 0.5562 0.5397 0.5046 0.5138 0.4869 0.5719 0.5066 0.3235 0.4774 0.5542 0.5266 het 1195.41 96 10 106907440 . C T 1195.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.119;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5762;MQ=58.11;MQ0=0;MQRankSum=0.660;QD=12.45;ReadPosRankSum=0.309;VQSLOD=5.3415;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,45:96:99:1225,0,1347 10 108380213 108380213 G A exonic SORCS1 synonymous SNV SORCS1:NM_001013031:exon20:c.C2769T:p.Y923Y,SORCS1:NM_001206569:exon20:c.C2769T:p.Y923Y,SORCS1:NM_001206570:exon20:c.C2769T:p.Y923Y,SORCS1:NM_001206571:exon20:c.C2769T:p.Y923Y,SORCS1:NM_001206572:exon20:c.C2769T:p.Y923Y,SORCS1:NM_052918:exon20:c.C2769T:p.Y923Y 0.38 0.47 0.24 0.51 0.17 0.42 0.2486 0.4250 0.2423 0.5482 0.1588 0.1614 0.2439 0.3736 0.26 0.43 0.17 0.29 0.18 rs4917481 COSM5420204;COSM5420205 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2425 0.4302 0.2308 0.1371 0.5433 0.1673 0.1646 0.2011 0.3706 0.2574 0.4243 0.2172 0.1159 0.5483 0.1576 0.1619 0.1898 het 3185.39 246 10 108380213 . G A 3185.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.719;DP=246;DS;Dels=0.00;FS=2.214;HRun=0;HaplotypeScore=8.6424;MQ=58.85;MQ0=0;MQRankSum=-0.068;QD=12.95;ReadPosRankSum=1.054;VQSLOD=4.5845;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,121:246:99:3215,0,3039 10 112361870 112361870 A G exonic SMC3 synonymous SNV SMC3:NM_005445:exon25:c.A3039G:p.S1013S 0.99 0.95 1. 1. 1. 1. 0.9963 0.9644 0.9987 1 1 0.9991 0.9967 0.9998 0.99 0.97 1. 0.97 1. rs2419565 . . Benign|Benign not_specified|Cornelia_de_Lange_Syndrome RCV000147595.2|RCV000323853.1 MedGen|MedGen CN169374|CN239271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9969 0.9649 0.9980 0.9891 1 1 0.9996 0.9978 0.9997 0.9897 0.9651 0.9976 0.9834 1 1 0.9997 0.9990 hom 2919.04 110 10 112361870 . A G 2919.04 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9878;MQ=57.28;MQ0=0;QD=26.54;VQSLOD=4.3299;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:2952,229,0 10 112641053 112641053 A G exonic PDCD4 nonsynonymous SNV PDCD4:NM_001199492:exon3:c.A64G:p.I22V,PDCD4:NM_014456:exon3:c.A106G:p.I36V,PDCD4:NM_145341:exon4:c.A73G:p.I25V 0.92 0.84 0.97 0.99 0.95 0.88 0.9454 0.8509 0.9729 0.9963 0.9549 0.9590 0.9581 0.8994 0.92 0.85 0.95 0.94 0.95 rs7081726 . . . . . . . . . . . . . 0.752 0.043 T 0.0 0.026 B 0.0 0.013 B 0.014 0.287 N 0.869 0.282 P -0.41 0.029 N 1.6 0.291 T 0.01 0.069 N 0.014 0.005 -0.902 0.478 T 0.000 0.000 T . . . 0.714 0.162 8.919 0.732 0.099 0.851 0.439 D c -0.270 -0.033 1.000 0.517 0.706 0.609 0 5.63 0.861 0.803 0.266 1.140 0.893 0.997 0.399 1.000 0.888 7.790 0.281 . . . 0.9470 0.8489 0.9736 0.9310 0.9965 0.9506 0.9581 0.9504 0.9006 0.9303 0.8497 0.9666 0.9205 0.9994 0.9508 0.9618 0.9491 het 1606.55 122 10 112641053 . A G 1606.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.258;DP=122;Dels=0.00;FS=1.450;HRun=0;HaplotypeScore=0.9734;MQ=59.15;MQ0=0;MQRankSum=1.427;QD=13.17;ReadPosRankSum=1.288;VQSLOD=6.0280;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,65:122:99:1637,0,1378 10 112645088 112645088 G A exonic PDCD4 synonymous SNV PDCD4:NM_001199492:exon5:c.G477A:p.Q159Q,PDCD4:NM_014456:exon5:c.G519A:p.Q173Q,PDCD4:NM_145341:exon6:c.G486A:p.Q162Q 0.044 0.11 0.029 0.001 0.048 0.01 0.0381 0.1075 0.0243 0.0002 0.0451 0.0407 0.0352 0.0108 0.067 0.11 0.044 0.033 0.049 rs34104444 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0374 0.1037 0.0224 0.0680 0.0002 0.0492 0.0406 0.0407 0.0104 0.0569 0.1081 0.0287 0.0795 0 0.0493 0.0374 0.0387 het 1156.58 96 10 112645088 . G A 1156.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.055;DP=96;Dels=0.00;FS=2.820;HRun=1;HaplotypeScore=0.8667;MQ=58.98;MQ0=0;MQRankSum=0.121;QD=12.05;ReadPosRankSum=-1.125;VQSLOD=6.0878;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,48:96:99:1187,0,1262 10 112724573 112724573 C T exonic SHOC2 synonymous SNV SHOC2:NM_001269039:exon2:c.C457T:p.L153L,SHOC2:NM_001324336:exon2:c.C457T:p.L153L,SHOC2:NM_007373:exon2:c.C457T:p.L153L,SHOC2:NM_001324337:exon3:c.C457T:p.L153L 0.0064 . 0.01 . 0.02 0.0051 0.0122 0.0026 0.0067 0.0001 0.0280 0.0166 0.0198 0.0041 0.013 0.0027 0.018 . 0.0082 rs34081996 . . Benign|Benign|Likely benign Rasopathy|not_specified|Noonan-like_syndrome_with_loose_anagen_hair RCV000128037.6|RCV000213001.2|RCV000407986.1 MedGen:Orphanet|MedGen|MedGen:OMIM:Orphanet CN166718:ORPHA98733|CN169374|C1843181:607721:ORPHA2701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0130 0.0027 0.0064 0.0034 0.0001 0.0295 0.0183 0.0146 0.0042 0.0126 0.0028 0.0108 0 0 0.0272 0.0162 0.0183 het 1025.34 68 10 112724573 . C T 1025.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.310;DP=68;Dels=0.00;FS=0.941;HRun=1;HaplotypeScore=2.8823;MQ=59.29;MQ0=0;MQRankSum=1.100;QD=15.08;ReadPosRankSum=-0.367;VQSLOD=5.6848;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,42:68:99:1055,0,712 10 113917085 113917085 T A exonic GPAM synonymous SNV GPAM:NM_001244949:exon19:c.A2043T:p.P681P,GPAM:NM_020918:exon19:c.A2043T:p.P681P 0.76 0.78 0.65 0.76 0.69 0.87 0.7256 0.7498 0.7376 0.7196 0.6701 0.6997 0.7137 0.8327 0.72 0.75 0.71 0.67 0.72 rs2254537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7204 0.7525 0.7195 0.5744 0.7234 0.6770 0.7085 0.7040 0.8277 0.7203 0.7539 0.6739 0.5563 0.7197 0.6774 0.7178 0.7039 het 1732.03 146 10 113917085 . T A 1732.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.177;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9525;MQ=59.27;MQ0=0;MQRankSum=1.233;QD=11.86;ReadPosRankSum=1.715;VQSLOD=4.4988;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,63:146:99:1762,0,2287 10 113920465 113920465 G A exonic GPAM synonymous SNV GPAM:NM_001244949:exon16:c.C1656T:p.N552N,GPAM:NM_020918:exon16:c.C1656T:p.N552N 0.55 0.53 0.46 0.6 0.54 0.62 0.5660 0.5063 0.5013 0.5731 0.5123 0.5770 0.5683 0.6224 0.56 0.5 0.59 0.54 0.58 rs2277207 COSM3751526 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5617 0.5044 0.4900 0.5112 0.5751 0.5228 0.5855 0.5624 0.6189 0.5558 0.5072 0.4725 0.51 0.5813 0.5264 0.5952 0.5306 het 708.74 79 10 113920465 . G A 708.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.902;DP=79;Dels=0.00;FS=1.970;HRun=0;HaplotypeScore=1.8268;MQ=58.88;MQ0=0;MQRankSum=1.706;QD=8.97;ReadPosRankSum=-0.972;VQSLOD=5.9956;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,29:79:99:739,0,1299 10 113935379 113935379 T C exonic GPAM nonsynonymous SNV GPAM:NM_001244949:exon6:c.A392G:p.E131G,GPAM:NM_020918:exon6:c.A392G:p.E131G 0.55 0.53 0.46 0.6 0.54 0.62 0.5667 0.5064 0.5010 0.5779 0.5119 0.5774 0.5695 0.6238 0.56 0.5 0.59 0.54 0.57 rs10787428 COSM3751527 1(stomach);1(large_intestine) . . . . . . . . . . . 0.006 0.614 D 0.457 0.344 P 0.081 0.275 B 0.000 0.559 D 0.000 0.548 P 1.745 0.454 L -0.52 0.707 T -3.3 0.681 D 0.089 0.132 -0.903 0.477 T 0.000 0.000 T . . . 4.433 0.593 24.2 0.998 0.901 0.984 0.825 D c 0.178 0.277 1.000 0.500 0.563 0.310 0 5.11 0.691 7.113 0.766 1.061 0.807 1.000 0.715 0.996 0.625 13.501 0.607 . . . 0.5623 0.5046 0.4903 0.5129 0.5782 0.5230 0.5857 0.5617 0.6200 0.5562 0.5071 0.4737 0.5133 0.5844 0.5266 0.5956 0.5337 het 2594.54 210 10 113935379 . T C 2594.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.571;DP=210;Dels=0.00;FS=1.684;HRun=1;HaplotypeScore=5.7888;MQ=58.49;MQ0=0;MQRankSum=0.407;QD=12.35;ReadPosRankSum=1.147;VQSLOD=5.1269;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,105:210:99:2625,0,2545 10 113940329 113940329 T C exonic GPAM nonsynonymous SNV GPAM:NM_001244949:exon4:c.A127G:p.I43V,GPAM:NM_020918:exon4:c.A127G:p.I43V 0.81 0.96 0.67 0.76 0.69 0.87 0.7428 0.9285 0.7438 0.7198 0.6704 0.7018 0.7168 0.8329 0.78 0.93 0.71 0.71 0.69 rs2792751 COSM3738299 1(haematopoietic_and_lymphoid_tissue);1(soft_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.329 N 1 0.090 P -1.59 0.004 N 1.78 0.257 T 0.15 0.057 N 0.007 0.003 -0.990 0.325 T 0.000 0.000 T . . . -1.790 0.011 0.002 0.137 0.003 0.039 0.092 N c -1.225 -1.023 0.269 0.189 0.651 0.465 0 2.8 0.317 1.249 0.322 -0.401 0.062 0.730 0.287 0.057 0.169 4.281 0.102 . . . 0.7337 0.9308 0.7261 0.5787 0.7241 0.6769 0.7104 0.7118 0.8283 0.7699 0.9253 0.6799 0.5596 0.7206 0.6762 0.7192 0.7159 het 707.57 73 10 113940329 . T C 707.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.620;DP=73;Dels=0.00;FS=1.924;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=0.050;QD=9.69;ReadPosRankSum=-1.979;VQSLOD=5.7573;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,30:73:99:738,0,1241 10 114053546 114053546 C G exonic TECTB synonymous SNV TECTB:NM_058222:exon5:c.C534G:p.S178S . . . . . . 0.5241 0.5648 0.7088 0.7395 0.3793 0.4626 0.4614 0.5660 0.49 0.56 0.46 0.58 0.38 rs726009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5264 0.5638 0.7063 0.4248 0.7384 0.3735 0.4638 0.4900 0.5698 0.5055 0.5729 0.6850 0.45 0.7559 0.3582 0.4648 0.5031 hom 4468.13 157 10 114053546 . C G 4468.13 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9954;MQ=58.63;MQ0=0;QD=28.46;VQSLOD=7.7230;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:4467,343,0 10 114200355 114200355 G A exonic ZDHHC6 synonymous SNV ZDHHC6:NM_001303134:exon5:c.C606T:p.T202T,ZDHHC6:NM_001351082:exon5:c.C618T:p.T206T,ZDHHC6:NM_001351083:exon5:c.C618T:p.T206T,ZDHHC6:NM_001351084:exon5:c.C618T:p.T206T,ZDHHC6:NM_001351085:exon5:c.C306T:p.T102T,ZDHHC6:NM_001351086:exon5:c.C294T:p.T98T,ZDHHC6:NM_022494:exon5:c.C618T:p.T206T 0.51 0.37 0.57 0.48 0.6 0.62 0.5671 0.3833 0.6628 0.4377 0.5957 0.5838 0.5242 0.6066 0.51 0.38 0.58 0.51 0.52 rs2306159 COSM4144343 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5695 0.3798 0.6583 0.4593 0.4350 0.5848 0.5878 0.5634 0.6017 0.5279 0.3839 0.6247 0.4702 0.4746 0.5863 0.5954 0.5900 hom 6673.74 210 10 114200355 . G A 6673.74 Mask AC=2;AF=1.00;AN=2;DP=210;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8363;MQ=59.67;MQ0=0;QD=31.78;VQSLOD=8.4192;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:6673,518,0 10 115334124 115334124 C T exonic HABP2 synonymous SNV HABP2:NM_001177660:exon3:c.C105T:p.H35H,HABP2:NM_004132:exon3:c.C183T:p.H61H 0.53 0.3 0.64 0.6 0.62 0.63 0.6235 0.3538 0.7439 0.6660 0.6492 0.6400 0.6079 0.6107 0.54 0.36 0.64 0.5 0.57 rs3740530 . . Likely benign Factor_VII_Marburg_I_Variant_Thrombophilia RCV000330830.1 MedGen CN068943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6288 0.3463 0.7375 0.4899 0.6637 0.6488 0.6454 0.6054 0.6055 0.5578 0.3507 0.7315 0.5 0.6788 0.6375 0.6341 0.6153 het 2460.53 219 10 115334124 . C T 2460.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.087;DP=219;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5558;MQ=59.19;MQ0=0;MQRankSum=-0.016;QD=11.24;ReadPosRankSum=-0.562;VQSLOD=6.3713;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:114,105:219:99:2491,0,2950 10 115341753 115341753 G A exonic HABP2 synonymous SNV HABP2:NM_001177660:exon9:c.G879A:p.K293K,HABP2:NM_004132:exon9:c.G957A:p.K319K 0.38 0.42 0.49 0.3 0.39 0.31 0.4004 0.4134 0.5113 0.2990 0.3822 0.4107 0.3601 0.3352 0.42 0.42 0.42 0.36 0.38 rs2245056 COSM3751530 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign Factor_VII_Marburg_I_Variant_Thrombophilia RCV000309209.1 MedGen CN068943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4058 0.4195 0.5161 0.3670 0.3029 0.3792 0.4144 0.4003 0.3382 0.4114 0.4231 0.4964 0.3576 0.3006 0.3893 0.4193 0.3908 hom 4847.88 148 10 115341753 . G A 4847.88 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.936;DP=148;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9986;MQ=58.84;MQ0=0;MQRankSum=-1.475;QD=32.76;ReadPosRankSum=1.147;VQSLOD=8.9486;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,147:148:99:4811,346,0 10 115341846 115341846 G A exonic HABP2 synonymous SNV HABP2:NM_001177660:exon9:c.G972A:p.A324A,HABP2:NM_004132:exon9:c.G1050A:p.A350A 0.38 0.41 0.49 0.3 0.39 0.31 0.4036 0.4185 0.5115 0.3057 0.3858 0.4143 0.3665 0.3366 0.42 0.41 0.42 0.35 0.27 rs2245058 . . Likely benign Factor_VII_Marburg_I_Variant_Thrombophilia RCV000315252.1 MedGen CN068943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4058 0.4172 0.5151 0.3673 0.3047 0.3807 0.4140 0.4005 0.3377 0.4103 0.4200 0.4964 0.3576 0.3033 0.3887 0.4188 0.3932 hom 1574.68 49 10 115341846 . G A 1574.68 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=32.14;VQSLOD=8.6007;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1608,138,0 10 115350597 115350597 G A exonic NRAP nonsynonymous SNV NRAP:NM_001322945:exon39:c.C4588T:p.R1530C,NRAP:NM_006175:exon39:c.C4591T:p.R1531C,NRAP:NM_001261463:exon40:c.C4696T:p.R1566C,NRAP:NM_198060:exon40:c.C4696T:p.R1566C 0.36 0.42 0.47 0.3 0.3 0.32 0.3535 0.4106 0.4964 0.3035 0.3054 0.3396 0.2985 0.3215 0.37 0.41 0.35 0.34 0.3 rs1885434 COSM3751532 1(breast);1(pancreas);1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.039 0.443 D 0.035 0.192 B 0.006 0.176 B 0.001 0.436 N 0.001 0.480 P 2.74 0.803 M 2.4 0.182 T -6.52 0.917 D 0.328 0.389 -0.956 0.399 T 0.000 0.000 T . . . 4.808 0.645 24.8 0.998 0.846 0.959 0.663 D c -0.128 -0.023 0.915 0.264 0.500 0.196 0 3.83 0.431 3.608 0.536 1.048 0.713 1.000 0.715 0.956 0.434 11.877 0.516 . . . 0.3586 0.4114 0.4973 0.3458 0.3082 0.2997 0.3401 0.3572 0.3230 0.3571 0.4198 0.4690 0.3411 0.3135 0.3005 0.3346 0.3272 het 1543.31 123 10 115350597 . G A 1543.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.448;DP=123;Dels=0.00;FS=2.363;HRun=0;HaplotypeScore=7.0535;MQ=59.09;MQ0=0;MQRankSum=0.018;QD=12.55;ReadPosRankSum=0.666;VQSLOD=4.9469;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,58:123:99:1573,0,1780 10 115370254 115370254 A G exonic NRAP synonymous SNV NRAP:NM_001322945:exon30:c.T3459C:p.I1153I,NRAP:NM_006175:exon30:c.T3462C:p.I1154I,NRAP:NM_001261463:exon31:c.T3567C:p.I1189I,NRAP:NM_198060:exon31:c.T3567C:p.I1189I 0.47 0.35 0.47 0.6 0.47 0.49 0.4649 0.3604 0.4451 0.6245 0.4475 0.4698 0.4890 0.4471 0.44 0.36 0.48 0.42 0.49 rs12243176 COSM3997753 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4626 0.3594 0.4394 0.3661 0.6172 0.4415 0.4769 0.4575 0.4475 0.4409 0.3464 0.4387 0.3725 0.5994 0.4391 0.4787 0.4754 hom 4429.45 166 10 115370254 . A G 4429.45 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.148;DP=166;Dels=0.00;FS=3.371;HRun=0;HaplotypeScore=2.8925;MQ=59.11;MQ0=0;MQRankSum=1.628;QD=26.68;ReadPosRankSum=-0.230;VQSLOD=3.8883;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,165:166:99:4390,308,0 10 115370274 115370274 T C exonic NRAP nonsynonymous SNV NRAP:NM_001322945:exon30:c.A3439G:p.I1147V,NRAP:NM_006175:exon30:c.A3442G:p.I1148V,NRAP:NM_001261463:exon31:c.A3547G:p.I1183V,NRAP:NM_198060:exon31:c.A3547G:p.I1183V 0.46 0.33 0.47 0.6 0.47 0.49 0.4627 0.3374 0.4436 0.6223 0.4475 0.4698 0.4890 0.4470 0.43 0.33 0.48 0.42 0.48 rs10749138 COSM1180648 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.012 0.293 N 1.000 0.588 P -0.2 0.042 N 2.66 0.152 T 0.77 0.020 N 0.043 0.023 -0.924 0.450 T 0.000 0.000 T . . . 0.224 0.115 4.932 0.878 0.170 0.661 0.327 D c -0.802 -0.655 0.010 0.120 0.487 0.133 0 0.626 0.168 0.167 0.163 0.144 0.231 0.994 0.380 0.915 0.391 9.731 0.393 . ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15 Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Liver|Muscle_Skeletal|Nerve_Tibial 0.4606 0.3372 0.4371 0.3664 0.6146 0.4414 0.4767 0.4569 0.4474 0.4335 0.3226 0.4376 0.3767 0.5967 0.4395 0.4778 0.4723 hom 4001.45 146 10 115370274 . T C 4001.45 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.759;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.01;MQ0=0;MQRankSum=1.661;QD=27.41;ReadPosRankSum=1.376;VQSLOD=6.9195;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,145:146:99:3964,282,0 10 115374670 115374670 A G exonic NRAP synonymous SNV NRAP:NM_001322945:exon27:c.T3006C:p.D1002D,NRAP:NM_006175:exon27:c.T3009C:p.D1003D,NRAP:NM_001261463:exon28:c.T3114C:p.D1038D,NRAP:NM_198060:exon28:c.T3114C:p.D1038D 0.12 0.13 0.16 0.022 0.21 0.12 0.1800 0.1597 0.1074 0.0229 0.2510 0.2229 0.1828 0.1238 0.2 0.16 0.23 0.087 0.21 rs3121453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1797 0.1588 0.1118 0.1985 0.0222 0.2421 0.2283 0.1974 0.1222 0.1903 0.1563 0.1277 0.1921 0.0204 0.2619 0.2148 0.1986 het 1282.42 124 10 115374670 . A G 1282.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.605;DP=124;Dels=0.00;FS=2.410;HRun=0;HaplotypeScore=3.9392;MQ=58.97;MQ0=0;MQRankSum=0.166;QD=10.34;ReadPosRankSum=-0.396;VQSLOD=5.9852;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,54:124:99:1312,0,1736 10 115375528 115375528 C A exonic NRAP synonymous SNV NRAP:NM_001322945:exon26:c.G2913T:p.P971P,NRAP:NM_006175:exon26:c.G2916T:p.P972P,NRAP:NM_001261463:exon27:c.G3021T:p.P1007P,NRAP:NM_198060:exon27:c.G3021T:p.P1007P 0.23 0.08 0.25 0.4 0.28 0.19 0.2565 0.1004 0.2967 0.3952 0.3087 0.2699 0.2561 0.1782 0.21 0.1 0.27 0.28 0.3 rs11196397 COSM147045 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2582 0.0960 0.2856 0.1550 0.3946 0.3109 0.2720 0.2473 0.1799 0.2412 0.0988 0.2895 0.1623 0.3986 0.3030 0.2889 0.2822 het 1144.73 86 10 115375528 . C A 1144.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.668;DP=86;Dels=0.00;FS=2.872;HRun=0;HaplotypeScore=3.5497;MQ=60.00;MQ0=0;MQRankSum=1.204;QD=13.31;ReadPosRankSum=-0.181;VQSLOD=5.7171;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,46:86:99:1175,0,850 10 115381747 115381747 G A exonic NRAP nonsynonymous SNV NRAP:NM_001322945:exon23:c.C2542T:p.R848C,NRAP:NM_006175:exon23:c.C2545T:p.R849C,NRAP:NM_001261463:exon24:c.C2650T:p.R884C,NRAP:NM_198060:exon24:c.C2650T:p.R884C 0.21 0.045 0.44 0.18 0.32 0.19 0.2988 0.0973 0.4951 0.1881 0.3427 0.3333 0.3018 0.1891 0.26 0.1 0.34 0.14 0.28 rs868738 COSM147047 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.02 0.574 D 0.975 0.596 D 0.582 0.547 P 0.000 0.504 D 0.000 0.810 P 1.04 0.263 L 1.15 0.382 T -4.71 0.799 D 0.255 0.340 -0.934 0.436 T 0.000 0.000 T . . . 6.889 0.931 33 0.999 0.992 0.914 0.533 D c 0.424 0.480 0.110 0.166 0.570 0.322 0 5.08 0.682 5.790 0.685 0.953 0.551 1.000 0.715 0.988 0.529 8.356 0.313 . . . 0.3103 0.0942 0.4841 0.2792 0.1804 0.3343 0.3391 0.3175 0.1878 0.2615 0.0960 0.4498 0.2667 0.1961 0.3509 0.3311 0.2986 het 2088.73 174 10 115381747 . G A 2088.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.942;DP=174;Dels=0.00;FS=0.566;HRun=0;HaplotypeScore=1.9981;MQ=59.15;MQ0=0;MQRankSum=0.700;QD=12.00;ReadPosRankSum=0.424;VQSLOD=6.8261;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,77:174:99:2119,0,2595 10 115392919 115392919 T A exonic NRAP nonsynonymous SNV NRAP:NM_006175:exon15:c.A1451T:p.N484I,NRAP:NM_001261463:exon16:c.A1556T:p.N519I,NRAP:NM_001322945:exon16:c.A1556T:p.N519I,NRAP:NM_198060:exon16:c.A1556T:p.N519I 0.26 0.33 0.22 0.19 0.27 0.24 0.2638 0.3516 0.1659 0.1813 0.2958 0.2779 0.2588 0.2509 0.3 0.35 0.28 0.23 0.26 rs2270182 COSM3751533 1(large_intestine) . . . . . . . . . . . 0.194 0.230 T 0.958 0.530 D 0.783 0.556 P 0.000 0.629 D 0.999 0.329 P 0.57 0.153 N 0.84 0.475 T -2.69 0.577 D 0.248 0.429 -0.966 0.381 T 0.000 0.000 T . . . 3.078 0.430 22.5 0.992 0.559 0.834 0.422 D c 0.307 0.386 0.033 0.141 0.487 0.133 0 5.67 0.876 2.539 0.451 0.144 0.231 1.000 0.715 0.945 0.419 11.435 0.491 . ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.2601 0.3533 0.1753 0.3684 0.1822 0.2955 0.2705 0.2839 0.2473 0.2841 0.3534 0.1921 0.3411 0.1755 0.3028 0.2569 0.2597 het 1100.64 94 10 115392919 . T A 1100.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.229;DP=94;Dels=0.00;FS=0.815;HRun=1;HaplotypeScore=3.9852;MQ=58.87;MQ0=0;MQRankSum=0.250;QD=11.71;ReadPosRankSum=-0.068;VQSLOD=6.2513;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,47:94:99:1131,0,1246 10 115393929 115393929 G A exonic NRAP nonsynonymous SNV NRAP:NM_006175:exon14:c.C1364T:p.S455L,NRAP:NM_001261463:exon15:c.C1469T:p.S490L,NRAP:NM_001322945:exon15:c.C1469T:p.S490L,NRAP:NM_198060:exon15:c.C1469T:p.S490L 0.29 0.12 0.28 0.43 0.33 0.35 0.3061 0.1355 0.3004 0.4384 0.3276 0.3086 0.3095 0.3299 0.25 0.14 0.31 0.32 0.36 rs3189030 COSM1179743 1(haematopoietic_and_lymphoid_tissue);1(skin);1(prostate) . . . . . . . . . . . 0.097 0.359 T 0.083 0.232 B 0.018 0.173 B 0.016 0.281 N 0.704 0.349 P 2.075 0.572 M 2.45 0.178 T -3.1 0.635 D 0.117 0.244 -0.935 0.434 T 0.000 0.000 T . . . 1.471 0.239 13.16 0.953 0.261 0.890 0.489 D c -0.551 -0.490 0.004 0.106 0.487 0.133 0 3.28 0.365 2.488 0.447 0.091 0.195 0.998 0.411 0.889 0.374 10.661 0.447 . ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood 0.3078 0.1326 0.2985 0.1928 0.4385 0.3303 0.3137 0.2975 0.3325 0.2791 0.1399 0.3002 0.1933 0.4373 0.3266 0.3283 0.3439 het 2855.67 210 10 115393929 . G A 2855.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.639;DP=210;DS;Dels=0.00;FS=3.356;HRun=1;HaplotypeScore=1.6483;MQ=58.93;MQ0=0;MQRankSum=-1.103;QD=13.60;ReadPosRankSum=0.151;VQSLOD=5.9495;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:102,108:210:99:2886,0,2667 10 115405615 115405615 T C exonic NRAP nonsynonymous SNV NRAP:NM_001261463:exon11:c.A1079G:p.Q360R,NRAP:NM_001322945:exon11:c.A1079G:p.Q360R,NRAP:NM_006175:exon11:c.A1079G:p.Q360R,NRAP:NM_198060:exon11:c.A1079G:p.Q360R 0.56 0.3 0.67 0.71 0.62 0.64 0.6175 0.3486 0.7651 0.7177 0.6304 0.6166 0.6203 0.6292 0.53 0.35 0.61 0.55 0.52 rs3127106 COSM4997898 1(pancreas) . . . . . . . . . . . 0.81 0.030 T 0.0 0.026 B 0.001 0.040 B 0.000 0.537 N 1 0.090 P 0.47 0.131 N 2.53 0.173 T -1.77 0.418 N 0.049 0.171 -0.959 0.395 T 0.000 0.000 T . . . 0.763 0.167 9.231 0.673 0.081 0.435 0.269 N c -0.795 -0.604 0.477 0.207 0.487 0.133 0 4.61 0.566 1.783 0.381 -0.328 0.075 0.981 0.351 0.918 0.393 7.126 0.245 . ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.6254 0.3450 0.7516 0.4677 0.7196 0.6307 0.6250 0.5957 0.6303 0.5587 0.3477 0.7160 0.4765 0.7441 0.6320 0.6330 0.6421 het 1529.35 143 10 115405615 . T C 1529.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.198;DP=143;Dels=0.00;FS=2.113;HRun=2;HaplotypeScore=4.9858;MQ=59.74;MQ0=0;MQRankSum=-1.551;QD=10.69;ReadPosRankSum=0.510;VQSLOD=4.4758;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,63:143:99:1559,0,2078 10 115405664 115405664 C T exonic NRAP nonsynonymous SNV NRAP:NM_001261463:exon11:c.G1030A:p.A344T,NRAP:NM_001322945:exon11:c.G1030A:p.A344T,NRAP:NM_006175:exon11:c.G1030A:p.A344T,NRAP:NM_198060:exon11:c.G1030A:p.A344T 0.56 0.3 0.67 0.71 0.62 0.64 0.6175 0.3487 0.7649 0.7176 0.6309 0.6166 0.6200 0.6293 0.53 0.35 0.61 0.55 0.59 rs3121478 COSM4997874 1(pancreas) . . . . . . . . . . . 0.4 0.123 T 0.044 0.203 B 0.022 0.184 B 0.000 0.443 D 0.999 0.217 P 1.53 0.389 L 2.58 0.160 T -0.35 0.129 N 0.093 0.152 -1.053 0.136 T 0.000 0.000 T . . . 0.044 0.098 3.022 0.931 0.221 0.632 0.318 D c -0.968 -0.886 0.133 0.171 0.487 0.133 0 2.78 0.316 2.047 0.407 -0.424 0.059 0.960 0.334 0.035 0.152 11.252 0.481 . ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.6244 0.3450 0.7504 0.4663 0.7186 0.6306 0.6242 0.5968 0.6282 0.5560 0.3448 0.7162 0.4767 0.7428 0.6275 0.6313 0.6415 het 1491.73 135 10 115405664 . C T 1491.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.761;DP=135;Dels=0.00;FS=0.654;HRun=0;HaplotypeScore=1.5317;MQ=60.01;MQ0=0;MQRankSum=0.827;QD=11.05;ReadPosRankSum=0.393;VQSLOD=6.4358;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,59:135:99:1522,0,1954 10 115410234 115410234 T C exonic NRAP nonsynonymous SNV NRAP:NM_001261463:exon8:c.A746G:p.Y249C,NRAP:NM_001322945:exon8:c.A746G:p.Y249C,NRAP:NM_006175:exon8:c.A746G:p.Y249C,NRAP:NM_198060:exon8:c.A746G:p.Y249C 0.2 0.018 0.24 0.33 0.3 0.19 0.2598 0.0532 0.2766 0.3281 0.3180 0.2892 0.2555 0.2005 0.21 0.058 0.29 0.24 0.33 rs2185913 COSM147049 1(stomach);2(large_intestine) . . . . . . . . . . . 0.039 0.518 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.548 P 2.74 0.803 M 2.25 0.204 T -3.91 0.732 D 0.478 0.527 -1.062 0.113 T 0.000 0.000 T . . . 5.835 0.799 27.2 0.999 0.930 0.986 0.849 D c 0.861 0.850 1.000 0.517 0.487 0.133 0 6.17 0.997 7.449 0.795 1.061 0.807 1.000 0.715 1.000 0.888 16.822 0.856 . ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2635 0.0514 0.2725 0.1737 0.3284 0.3192 0.2930 0.2574 0.2057 0.2356 0.0526 0.2644 0.1788 0.3248 0.3172 0.3085 0.3075 het 1387.97 113 10 115410234 . T C 1387.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.971;DP=113;Dels=0.00;FS=1.539;HRun=0;HaplotypeScore=5.6806;MQ=58.00;MQ0=0;MQRankSum=0.880;QD=12.28;ReadPosRankSum=-1.387;VQSLOD=4.7371;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:60,53:113:99:1418,0,1519 10 115411598 115411598 C A exonic NRAP synonymous SNV NRAP:NM_001261463:exon7:c.G639T:p.L213L,NRAP:NM_001322945:exon7:c.G639T:p.L213L,NRAP:NM_006175:exon7:c.G639T:p.L213L,NRAP:NM_198060:exon7:c.G639T:p.L213L 0.26 0.33 0.22 0.22 0.27 0.25 0.2658 0.3468 0.1656 0.2085 0.2945 0.2783 0.2599 0.2536 0.3 0.34 0.28 0.25 0.27 rs4918861 COSM3751535 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2620 0.3480 0.1748 0.3675 0.2098 0.2950 0.2708 0.2833 0.2505 0.2829 0.3434 0.1962 0.3411 0.1989 0.3023 0.2579 0.2541 het 1249.17 127 10 115411598 . C A 1249.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.741;DP=127;Dels=0.00;FS=8.257;HRun=1;HaplotypeScore=2.7840;MQ=58.90;MQ0=0;MQRankSum=-0.453;QD=9.84;ReadPosRankSum=-0.225;VQSLOD=4.6611;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,52:127:99:1279,0,2064 10 115411614 115411614 A G exonic NRAP nonsynonymous SNV NRAP:NM_001261463:exon7:c.T623C:p.V208A,NRAP:NM_001322945:exon7:c.T623C:p.V208A,NRAP:NM_006175:exon7:c.T623C:p.V208A,NRAP:NM_198060:exon7:c.T623C:p.V208A 0.88 0.81 0.91 0.9 0.89 0.9 0.8952 0.8243 0.9378 0.8991 0.9265 0.8946 0.8855 0.8988 0.87 0.82 0.89 0.88 0.91 rs2154028 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.481 N 1.000 0.090 P -0.21 0.040 N 2.61 0.156 T 0.27 0.043 N 0.075 0.065 -1.015 0.252 T 0.000 0.000 T . . . 0.903 0.180 10.09 0.222 0.009 0.091 0.147 N c -0.644 -0.421 0.016 0.128 0.487 0.133 0 5.13 0.696 2.279 0.429 0.138 0.222 0.991 0.370 0.894 0.377 9.734 0.394 . ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15|ENSG00000165806.15 Adipose_Subcutaneous|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Stomach|Thyroid|Whole_Blood 0.8985 0.8250 0.9351 0.8386 0.9038 0.9280 0.8964 0.8898 0.8988 0.8798 0.8211 0.9153 0.8212 0.9172 0.9367 0.8932 0.9204 hom 4017.46 141 10 115411614 . A G 4017.46 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2964;MQ=59.21;MQ0=0;QD=28.49;VQSLOD=7.2246;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4017,313,0 10 115412793 115412793 A G exonic NRAP synonymous SNV NRAP:NM_001261463:exon6:c.T471C:p.Y157Y,NRAP:NM_001322945:exon6:c.T471C:p.Y157Y,NRAP:NM_006175:exon6:c.T471C:p.Y157Y,NRAP:NM_198060:exon6:c.T471C:p.Y157Y 0.31 0.49 0.24 0.22 0.27 0.25 0.2767 0.4657 0.1710 0.2089 0.2959 0.2789 0.2632 0.2543 0.34 0.45 0.28 0.33 0.28 rs3737322 COSM3751536 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2748 0.4696 0.1868 0.3706 0.2126 0.2967 0.2736 0.2943 0.2585 0.3158 0.4646 0.2005 0.3411 0.2011 0.3036 0.2581 0.2680 het 1612.23 117 10 115412793 . A G 1612.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.521;DP=117;Dels=0.00;FS=5.691;HRun=0;HaplotypeScore=2.6377;MQ=59.68;MQ0=0;MQRankSum=1.044;QD=13.78;ReadPosRankSum=0.559;VQSLOD=5.4516;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,60:117:99:1642,0,1319 10 115417289 115417289 G A exonic NRAP synonymous SNV NRAP:NM_001261463:exon4:c.C300T:p.H100H,NRAP:NM_001322945:exon4:c.C300T:p.H100H,NRAP:NM_006175:exon4:c.C300T:p.H100H,NRAP:NM_198060:exon4:c.C300T:p.H100H 0.88 0.81 0.91 0.9 0.89 0.9 0.8949 0.8213 0.9377 0.8994 0.9262 0.8945 0.8844 0.8988 0.87 0.82 0.89 0.88 0.9 rs1891762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8982 0.8228 0.9349 0.8381 0.9039 0.9278 0.8964 0.8896 0.8988 0.8791 0.8188 0.9175 0.8212 0.9172 0.9367 0.8929 0.9214 hom 2501.20 90 10 115417289 . G A 2501.20 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9164;MQ=59.38;MQ0=0;QD=27.79;VQSLOD=7.6436;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2534,193,0 10 115422474 115422474 A G exonic NRAP synonymous SNV NRAP:NM_001261463:exon3:c.T219C:p.N73N,NRAP:NM_001322945:exon3:c.T219C:p.N73N,NRAP:NM_006175:exon3:c.T219C:p.N73N,NRAP:NM_198060:exon3:c.T219C:p.N73N 0.29 0.29 0.46 0.21 0.32 0.21 0.3247 0.2936 0.5024 0.2317 0.3434 0.3373 0.3139 0.2106 0.33 0.3 0.34 0.26 0.28 rs3127122 COSM147050 1(stomach);1(oesophagus);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3316 0.2919 0.4931 0.2652 0.2253 0.3352 0.3442 0.3272 0.2093 0.3211 0.2852 0.4606 0.2483 0.2376 0.3516 0.3375 0.3200 het 1020.56 75 10 115422474 . A G 1020.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.676;DP=75;Dels=0.00;FS=3.148;HRun=1;HaplotypeScore=0.9983;MQ=58.88;MQ0=0;MQRankSum=0.069;QD=13.61;ReadPosRankSum=0.398;VQSLOD=6.4279;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:1051,0,790 10 115451781 115451781 C T exonic CASP7 synonymous SNV CASP7:NM_033338:exon2:c.C51T:p.N17N 0.071 0.02 0.045 0.11 0.11 0.082 0.0896 0.0310 0.0330 0.0868 0.0729 0.1083 0.0993 0.0980 0.089 0.037 0.12 0.043 0.17 rs12358524 COSM3751537 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0895 0.0313 0.0369 0.1267 0.0952 0.0749 0.1100 0.0818 0.1002 0.0804 0.0304 0.0477 0.1523 0.0944 0.0793 0.1081 0.0890 het 1213.99 133 10 115451781 . C T 1213.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.960;DP=133;Dels=0.00;FS=6.793;HRun=0;HaplotypeScore=6.5728;MQ=59.34;MQ0=0;MQRankSum=1.618;QD=9.13;ReadPosRankSum=0.315;VQSLOD=3.3931;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,56:133:99:1244,0,2099 10 115526177 115526177 A G exonic PLEKHS1 synonymous SNV PLEKHS1:NM_182601:exon2:c.A18G:p.Q6Q,PLEKHS1:NM_024889:exon3:c.A36G:p.Q12Q 0.23 0.023 0.46 0.14 0.42 0.26 0.3584 0.0772 0.4969 0.1392 0.5279 0.4150 0.3894 0.2537 0.3 0.086 0.4 0.14 0.4 rs10885500 COSM3751538;COSM3751539 1(bone);1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3721 0.0729 0.4964 0.4013 0.1350 0.5158 0.4113 0.3991 0.2518 0.3149 0.0784 0.4678 0.3808 0.1344 0.5155 0.4083 0.4283 het 492.23 68 10 115526177 . A G 492.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.389;DP=68;Dels=0.00;FS=2.593;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=0.452;QD=7.24;ReadPosRankSum=0.282;VQSLOD=4.9919;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,22:68:99:522,0,1250 10 115609915 115609915 C G exonic DCLRE1A nonsynonymous SNV DCLRE1A:NM_014881:exon2:c.G949C:p.D317H,DCLRE1A:NM_001271816:exon3:c.G949C:p.D317H 0.66 0.31 0.82 0.82 0.79 0.71 0.7562 0.3668 0.8975 0.8435 0.7999 0.7824 0.7804 0.7321 0.64 0.38 0.77 0.55 0.8 rs3750898 . . . . . . . . . . . . . 0.007 0.599 D 0.993 0.637 D 0.72 0.530 P 0.656 0.105 N 0.936 0.269 P 1.59 0.404 L -0.29 0.677 T -1.38 0.342 N 0.078 0.069 -1.003 0.290 T 0.000 0.000 T . . . 5.545 0.754 26.4 0.994 0.645 0.444 0.271 N c 0.210 0.156 1.000 0.747 0.563 0.310 0 4.13 0.475 1.120 0.307 0.038 0.153 0.165 0.236 0.506 0.272 10.130 0.417 . . . 0.7707 0.3692 0.8855 0.8020 0.8477 0.8105 0.7777 0.7907 0.7342 0.6768 0.3802 0.8508 0.8367 0.8776 0.7975 0.7802 0.7704 het 2391.31 181 10 115609915 . C G 2391.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.209;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5902;MQ=58.43;MQ0=1;MQRankSum=0.614;QD=13.21;ReadPosRankSum=0.094;VQSLOD=4.6054;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,93:181:99:2421,0,2544 10 115644040 115644040 G A exonic NHLRC2 nonsynonymous SNV NHLRC2:NM_198514:exon5:c.G940A:p.V314I 0.22 0.12 0.23 0.31 0.29 0.19 0.2720 0.1494 0.2716 0.3256 0.3824 0.2918 0.2671 0.1976 0.24 0.16 0.28 0.22 0.22 rs7913176 COSM427091 2(prostate) . . . . . . . . . . . 0.434 0.094 T 0.552 0.363 P 0.064 0.257 B 0.000 0.441 D 0.059 0.373 P 1.03 0.257 L -2.59 0.898 D 0.25 0.045 N 0.064 0.049 -0.986 0.335 T 0.000 0.000 T . . . 1.835 0.281 15.20 0.992 0.537 0.855 0.443 D c -0.074 0.073 0.984 0.306 0.707 0.730 0 5.03 0.669 2.649 0.461 0.993 0.603 1.000 0.715 0.999 0.750 16.589 0.845 Six-bladed beta-propeller\x2c TolB-like . . 0.2773 0.1506 0.2721 0.2170 0.3304 0.3916 0.2914 0.2723 0.2023 0.2685 0.1519 0.2536 0.2733 0.3495 0.3864 0.2986 0.3074 het 468.57 54 10 115644040 . G A 468.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.275;DP=54;Dels=0.00;FS=1.072;HRun=0;HaplotypeScore=0.9947;MQ=57.69;MQ0=0;MQRankSum=1.195;QD=8.68;ReadPosRankSum=-1.558;VQSLOD=4.3823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,19:54:99:499,0,908 10 115805056 115805056 G C exonic ADRB1 nonsynonymous SNV ADRB1:NM_000684:exon1:c.G1165C:p.G389R 0.7 0.57 0.81 0.79 0.68 0.73 0.7360 0.5922 0.8648 0.7537 0.7467 0.7224 0.7295 0.7608 0.7 0.63 0.74 . 0.53 rs1801253 COSM3751541 1(lung);2(thyroid);1(large_intestine) drug response Congestive_heart_failure_and_beta-blocker_response\x2c_modifier_of RCV000019322.2 MedGen C2676080 Birth weight . -0.04 23202124 rs1801253 4E-9 1.0 0.010 T . . . . . . 0.000 0.843 N 1.000 0.211 P . . . 1.43 0.330 T 3.17 0.001 N 0.072 0.061 -0.959 0.394 T 0.000 0.000 T . . . -0.574 0.051 0.144 0.662 0.078 0.336 0.246 N c -0.487 -0.492 1.000 0.517 0.598 0.340 0 1.68 0.231 1.045 0.297 -0.086 0.118 1.000 0.715 0.989 0.536 7.000 0.238 . ENSG00000043591.4 Testis 0.7377 0.5749 0.8592 0.6235 0.7454 0.7393 0.7250 0.7264 0.7549 0.6974 0.5935 0.8144 0.6119 0.7361 0.7569 0.7369 0.7400 hom 1291.06 44 10 115805056 . G C 1291.06 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=29.34;VQSLOD=8.4778;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1324,117,0 10 115910928 115910928 G T exonic CCDC186 nonsynonymous SNV CCDC186:NM_018017:exon4:c.C811A:p.Q271K,CCDC186:NM_001321829:exon5:c.C811A:p.Q271K 0.21 0.34 0.23 0.059 0.25 0.11 0.2058 0.3264 0.1582 0.0704 0.1978 0.2312 0.2203 0.1338 0.26 0.32 0.23 0.18 0.21 rs7095762 COSM3751542 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.204 P -2.135 0.001 N 1.3 0.356 T 1.04 0.013 N 0.012 0.001 -0.972 0.367 T 0.000 0.000 T . . . 0.030 0.096 2.878 0.157 0.004 0.112 0.163 N c -0.784 -0.540 1.000 0.480 0.615 0.372 0 4.8 0.610 4.665 0.610 -0.393 0.063 1.000 0.715 0.944 0.418 11.990 0.523 . ENSG00000095627.5 Testis 0.2024 0.3220 0.1593 0.3110 0.0690 0.1933 0.2288 0.2307 0.1358 0.2384 0.3277 0.1659 0.3433 0.0644 0.2006 0.2184 0.2010 hom 2853.78 89 10 115910928 . G T 2853.78 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=32.06;VQSLOD=9.1360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2887,235,0 10 115922492 115922492 C T exonic CCDC186 nonsynonymous SNV CCDC186:NM_018017:exon2:c.G536A:p.R179Q,CCDC186:NM_001321829:exon3:c.G536A:p.R179Q,CCDC186:NM_153249:exon3:c.G536A:p.R179Q 0.031 0.0015 0.071 . 0.097 0.0072 0.0536 0.0153 0.0471 0.0003 0.0790 0.0762 0.0519 0.0085 0.062 0.021 0.083 0.033 0.033 rs12782946 COSM4985688 2(soft_tissue) . . . . . . . . . . . 0.667 0.050 T 0.0 0.026 B 0.0 0.013 B 0.069 0.217 N 0.985 0.247 P 0.63 0.160 N 1.58 0.291 T -0.06 0.114 N 0.013 0.003 -1.004 0.286 T 0.001 0.003 T . . . 2.277 0.335 18.02 0.990 0.505 0.077 0.136 N c -0.874 -0.758 1.000 0.458 0.707 0.730 0 -1.27 0.088 0.428 0.210 0.023 0.146 0.112 0.228 0.994 0.587 11.252 0.481 . ENSG00000165816.8|ENSG00000095627.5 Colon_Transverse|Testis 0.0554 0.0159 0.0451 0.0702 0.0003 0.0726 0.0797 0.0738 0.0087 0.0526 0.0175 0.0564 0.0563 0 0.0836 0.0706 0.0612 hom 2226.80 77 10 115922492 . C T 2226.80 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7356;MQ=60.00;MQ0=0;QD=28.92;VQSLOD=8.1530;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2260,172,0 10 115922774 115922774 G A exonic CCDC186 nonsynonymous SNV CCDC186:NM_018017:exon2:c.C254T:p.T85I,CCDC186:NM_001321829:exon3:c.C254T:p.T85I,CCDC186:NM_153249:exon3:c.C254T:p.T85I 0.21 0.34 0.23 0.059 0.25 0.11 0.2060 0.3283 0.1574 0.0699 0.2017 0.2311 0.2203 0.1344 0.26 0.32 0.24 0.18 0.2 rs1061159 COSM3751543 3(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.419 0.098 T 0.0 0.026 B 0.0 0.013 B 0.482 0.050 N 1 0.090 P 0.09 0.084 N 1.87 0.327 T -0.86 0.526 N 0.015 0.003 -1.024 0.226 T 0.000 0.000 T . . . -2.592 0.003 0.001 0.169 0.005 0.015 0.049 N c -1.859 -1.931 1.000 0.747 0.707 0.730 0 -9.53 0.005 -0.677 0.053 -1.262 0.014 0.000 0.063 0.429 0.259 19.155 0.935 . ENSG00000095627.5 Testis 0.2037 0.3229 0.1608 0.3119 0.0693 0.1968 0.2296 0.2323 0.1376 0.2387 0.3281 0.1675 0.3444 0.0648 0.2029 0.2182 0.2020 hom 2724.45 88 10 115922774 . G A 2724.45 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=30.96;VQSLOD=8.9056;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2757,223,0 10 116008497 116008497 G A exonic VWA2 nonsynonymous SNV VWA2:NM_001272046:exon2:c.G25A:p.A9T,VWA2:NM_001320804:exon2:c.G25A:p.A9T 0.2 0.34 0.22 0.06 0.25 0.11 0.2053 0.3215 0.1402 0.0718 0.2136 0.2331 0.2181 0.1312 0.26 0.31 0.24 0.17 0.21 rs9664945 COSM3751545;COSM3751544 1(large_intestine) . . . . . . . . . . . 0.477 0.083 T 0.001 0.067 B 0.002 0.104 B 0.575 0.112 N 1.000 0.090 P 1.1 0.281 L -0.39 0.692 T 0.41 0.034 N 0.09 0.088 -1.040 0.173 T 0.000 0.000 T . . . 0.531 0.145 7.662 0.808 0.129 0.088 0.145 N c -1.026 -0.973 0.039 0.144 0.554 0.283 0 3.07 0.343 0.914 0.280 -0.216 0.099 0.286 0.250 0.001 0.043 7.135 0.245 . ENSG00000095627.5 Testis 0.2028 0.3207 0.1420 0.3130 0.0708 0.2080 0.2318 0.2322 0.1350 0.2399 0.3229 0.1480 0.3377 0.0643 0.2136 0.2225 0.2037 hom 4725.10 163 10 116008497 . G A 4725.10 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.419;DP=163;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.4996;MQ=59.86;MQ0=0;MQRankSum=-1.037;QD=28.99;ReadPosRankSum=0.576;VQSLOD=5.7365;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,161:163:99:4724,373,0 10 116020974 116020974 C G exonic VWA2 synonymous SNV VWA2:NM_001272046:exon5:c.C291G:p.S97S,VWA2:NM_001320804:exon5:c.C291G:p.S97S 0.032 0.0015 0.075 . 0.096 0.0082 0.0521 0.0149 0.0464 0.0003 0.0771 0.0734 0.0518 0.0108 0.059 0.019 0.079 0.033 0.041 rs71484937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0546 0.0157 0.0448 0.0685 0.0003 0.0716 0.0776 0.0722 0.0113 0.0514 0.0172 0.0537 0.0530 0 0.0799 0.0694 0.0611 hom 5549.28 191 10 116020974 . C G 5549.28 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;QD=29.05;VQSLOD=8.1769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:191:99:5548,469,0 10 116046066 116046066 C T exonic VWA2 nonsynonymous SNV VWA2:NM_001272046:exon11:c.C1366T:p.H456Y,VWA2:NM_001320804:exon11:c.C1366T:p.H456Y 0.0044 . 0.017 . 0.0099 . 0.0046 0.0019 0.0085 0.0001 0.0009 0.0064 0.0078 0 0.0066 0.0027 0.0086 0.011 0.0082 rs141860499 . . . . . . . . . . . . . 0.044 0.410 D 0.107 0.293 B 0.053 0.344 B 0.940 0.076 N 1 0.090 N 1.155 0.297 L -1.66 0.827 D -1.35 0.336 N 0.106 0.112 -0.851 0.519 T 0.239 0.607 T . . . 0.498 0.142 7.415 0.983 0.399 0.228 0.217 N c -0.971 -0.968 0.985 0.307 0.515 0.199 0 1.12 0.196 1.117 0.306 0.935 0.490 0.000 0.063 0.043 0.159 7.921 0.288 von Willebrand factor\x2c type A . . 0.0047 0.0018 0.0077 0.0067 5.809e-05 0.0008 0.0067 0.0055 3.282e-05 0.0039 0.0010 0.0072 0.0033 0 0.0011 0.0063 0.0081 het 1490.01 120 10 116046066 . C T 1490.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.926;DP=120;Dels=0.00;FS=5.652;HRun=0;HaplotypeScore=3.3072;MQ=59.03;MQ0=0;MQRankSum=1.844;QD=12.42;ReadPosRankSum=-2.175;VQSLOD=2.5045;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,56:120:99:1520,0,1802 10 116057112 116057112 C T exonic AFAP1L2 nonsynonymous SNV AFAP1L2:NM_001351075:exon16:c.G1925A:p.G642D,AFAP1L2:NM_001351076:exon16:c.G1925A:p.G642D,AFAP1L2:NM_001001936:exon17:c.G2174A:p.G725D,AFAP1L2:NM_001351066:exon17:c.G2009A:p.G670D,AFAP1L2:NM_001351069:exon17:c.G2171A:p.G724D,AFAP1L2:NM_001351074:exon17:c.G2171A:p.G724D,AFAP1L2:NM_001351080:exon17:c.G2009A:p.G670D,AFAP1L2:NM_032550:exon17:c.G2174A:p.G725D,AFAP1L2:NM_001287824:exon18:c.G2333A:p.G778D,AFAP1L2:NM_001351064:exon18:c.G2225A:p.G742D,AFAP1L2:NM_001351065:exon18:c.G2258A:p.G753D,AFAP1L2:NM_001351067:exon18:c.G2225A:p.G742D,AFAP1L2:NM_001351068:exon18:c.G2228A:p.G743D,AFAP1L2:NM_001351070:exon18:c.G2006A:p.G669D,AFAP1L2:NM_001351073:exon18:c.G2003A:p.G668D,AFAP1L2:NM_001351077:exon18:c.G2255A:p.G752D,AFAP1L2:NM_001351078:exon18:c.G2258A:p.G753D,AFAP1L2:NM_001351079:exon18:c.G2255A:p.G752D,AFAP1L2:NM_001351071:exon19:c.G2090A:p.G697D,AFAP1L2:NM_001351072:exon19:c.G2087A:p.G696D 0.002 0.0008 0.0043 . 0.006 . 0.0035 0.0010 0.0012 0 0.0007 0.0056 0.0011 0.0011 0.0048 0.0009 0.0067 . . rs149846490 . . . . . . . . . . . . . 0.491 0.080 T 0.0 0.026 B 0.002 0.063 B 0.292 0.039 N 1 0.090 N 0 0.065 N 2.62 0.132 T 0.45 0.032 N 0.225 0.276 -0.989 0.330 T 0.010 0.038 T 0.002 0.046 T -1.037 0.031 0.013 0.351 0.022 0.034 0.085 N c -1.685 -1.701 0.986 0.310 0.706 0.609 0 -5.29 0.025 0.122 0.154 -0.223 0.096 0.000 0.063 0.011 0.114 0.430 0.004 . . . 0.0031 0.0013 0.0018 0 0 0.0005 0.0055 0.0022 0.0011 0.0025 0.0007 0.0024 0 0 0 0.0043 0.0041 het 532.08 57 10 116057112 . C T 532.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.517;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6208;MQ=59.60;MQ0=0;MQRankSum=-0.024;QD=9.33;ReadPosRankSum=-0.978;VQSLOD=4.6030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,24:57:99:562,0,952 10 116060387 116060387 T C exonic AFAP1L2 synonymous SNV AFAP1L2:NM_001001936:exon14:c.A1605G:p.R535R,AFAP1L2:NM_001351069:exon14:c.A1605G:p.R535R,AFAP1L2:NM_001351074:exon14:c.A1605G:p.R535R,AFAP1L2:NM_032550:exon14:c.A1605G:p.R535R,AFAP1L2:NM_001287824:exon15:c.A1764G:p.R588R,AFAP1L2:NM_001351064:exon15:c.A1659G:p.R553R,AFAP1L2:NM_001351065:exon15:c.A1689G:p.R563R,AFAP1L2:NM_001351067:exon15:c.A1659G:p.R553R,AFAP1L2:NM_001351068:exon15:c.A1659G:p.R553R,AFAP1L2:NM_001351070:exon15:c.A1437G:p.R479R,AFAP1L2:NM_001351073:exon15:c.A1437G:p.R479R,AFAP1L2:NM_001351077:exon15:c.A1689G:p.R563R,AFAP1L2:NM_001351078:exon15:c.A1689G:p.R563R,AFAP1L2:NM_001351079:exon15:c.A1689G:p.R563R,AFAP1L2:NM_001351071:exon16:c.A1521G:p.R507R,AFAP1L2:NM_001351072:exon16:c.A1521G:p.R507R 0.64 0.3 0.84 0.71 0.83 0.7 0.7791 0.3702 0.8693 0.7271 0.8342 0.8373 0.8009 0.7419 0.68 0.38 0.84 0.56 0.76 rs2286396 COSM4144354;COSM4144355 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7890 0.3697 0.8612 0.7662 0.7287 0.8336 0.8398 0.8049 0.7418 0.6957 0.3710 0.8469 0.7450 0.7358 0.8408 0.8301 0.7930 hom 2307.62 76 10 116060387 . T C 2307.62 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=30.36;VQSLOD=8.7361;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2341,181,0 10 116073696 116073696 C T exonic AFAP1L2 synonymous SNV AFAP1L2:NM_001001936:exon7:c.G726A:p.T242T,AFAP1L2:NM_001351069:exon7:c.G726A:p.T242T,AFAP1L2:NM_001351074:exon7:c.G726A:p.T242T,AFAP1L2:NM_001351075:exon7:c.G726A:p.T242T,AFAP1L2:NM_001351076:exon7:c.G726A:p.T242T,AFAP1L2:NM_032550:exon7:c.G726A:p.T242T,AFAP1L2:NM_001287824:exon8:c.G885A:p.T295T,AFAP1L2:NM_001351064:exon8:c.G780A:p.T260T,AFAP1L2:NM_001351065:exon8:c.G810A:p.T270T,AFAP1L2:NM_001351066:exon8:c.G810A:p.T270T,AFAP1L2:NM_001351067:exon8:c.G780A:p.T260T,AFAP1L2:NM_001351068:exon8:c.G780A:p.T260T,AFAP1L2:NM_001351070:exon8:c.G558A:p.T186T,AFAP1L2:NM_001351073:exon8:c.G558A:p.T186T,AFAP1L2:NM_001351077:exon8:c.G810A:p.T270T,AFAP1L2:NM_001351078:exon8:c.G810A:p.T270T,AFAP1L2:NM_001351079:exon8:c.G810A:p.T270T,AFAP1L2:NM_001351080:exon8:c.G810A:p.T270T,AFAP1L2:NM_001351071:exon9:c.G642A:p.T214T,AFAP1L2:NM_001351072:exon9:c.G642A:p.T214T 0.58 0.09 0.81 0.89 0.76 0.6 0.7249 0.1762 0.8298 0.9071 0.8330 0.7839 0.75 0.6188 0.58 0.19 0.78 0.48 0.77 rs3813722 COSM4144358;COSM4144360;COSM4144359 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7419 0.1742 0.8258 0.6521 0.9143 0.8389 0.7897 0.7470 0.6201 0.6315 0.1792 0.7959 0.6533 0.9045 0.8278 0.8009 0.7710 hom 4338.28 139 10 116073696 . C T 4338.28 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;QD=31.21;VQSLOD=8.5941;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4338,352,0 10 116307504 116307504 A G exonic ABLIM1 synonymous SNV ABLIM1:NM_001003407:exon5:c.T525C:p.N175N,ABLIM1:NM_001003408:exon5:c.T525C:p.N175N,ABLIM1:NM_001322882:exon5:c.T525C:p.N175N,ABLIM1:NM_001322883:exon5:c.T525C:p.N175N,ABLIM1:NM_001322884:exon5:c.T474C:p.N158N,ABLIM1:NM_001322885:exon5:c.T474C:p.N158N,ABLIM1:NM_001322886:exon5:c.T474C:p.N158N,ABLIM1:NM_001322887:exon5:c.T525C:p.N175N,ABLIM1:NM_002313:exon5:c.T705C:p.N235N 0.78 0.96 0.74 0.67 0.74 0.74 0.7273 0.9225 0.6501 0.6768 0.6869 0.7312 0.7362 0.6846 0.79 0.92 0.73 0.78 0.67 rs2247528 COSM5424768;COSM5424767;COSM5424769 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7199 0.9218 0.6543 0.7400 0.6756 0.6977 0.7289 0.7424 0.6875 0.7713 0.9256 0.6966 0.7384 0.6846 0.7041 0.7142 0.7239 hom 1820.23 59 10 116307504 . A G 1820.23 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.47;MQ0=0;QD=30.85;VQSLOD=8.8144;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:59:99:1853,153,0 10 116335246 116335246 G A exonic ABLIM1 synonymous SNV ABLIM1:NM_001003407:exon3:c.C312T:p.F104F,ABLIM1:NM_001003408:exon3:c.C312T:p.F104F,ABLIM1:NM_001322882:exon3:c.C312T:p.F104F,ABLIM1:NM_001322883:exon3:c.C312T:p.F104F,ABLIM1:NM_001322884:exon3:c.C261T:p.F87F,ABLIM1:NM_001322885:exon3:c.C261T:p.F87F,ABLIM1:NM_001322886:exon3:c.C261T:p.F87F,ABLIM1:NM_001322887:exon3:c.C312T:p.F104F,ABLIM1:NM_002313:exon3:c.C492T:p.F164F 0.3 0.47 0.36 0.23 0.21 0.21 0.2178 0.4386 0.3200 0.2319 0.1187 0.1823 0.2064 0.1837 0.27 0.44 0.18 0.42 0.16 rs985273 COSM3751549;COSM147052;COSM3751548 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2163 0.4385 0.3152 0.2330 0.2295 0.1152 0.1806 0.2278 0.1859 0.2414 0.4412 0.3182 0.2318 0.2249 0.1102 0.1574 0.1878 het 2192.37 167 10 116335246 . G A 2192.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.297;DP=167;Dels=0.00;FS=2.726;HRun=2;HaplotypeScore=5.2992;MQ=58.03;MQ0=0;MQRankSum=-0.067;QD=13.13;ReadPosRankSum=-1.192;VQSLOD=4.7437;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,81:167:99:2222,0,2103 10 116615045 116615045 T C exonic FAM160B1 synonymous SNV FAM160B1:NM_001135051:exon14:c.T1893C:p.F631F,FAM160B1:NM_020940:exon14:c.T1893C:p.F631F 0.25 0.23 0.2 0.036 0.38 0.42 0.3201 0.2534 0.1689 0.0351 0.3177 0.3774 0.3466 0.3855 0.34 0.26 0.39 0.24 0.34 rs3180654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3170 0.2530 0.1778 0.4060 0.0381 0.3219 0.3813 0.3363 0.3887 0.3156 0.2631 0.2014 0.4040 0.0390 0.3291 0.3771 0.3221 hom 2434.14 82 10 116615045 . T C 2434.14 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=29.68;VQSLOD=8.5946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2467,214,0 10 116719543 116719543 G A exonic TRUB1 nonsynonymous SNV TRUB1:NM_139169:exon4:c.G500A:p.R167K 0.42 0.78 0.3 0.037 0.45 0.39 0.4248 0.7460 0.2348 0.0390 0.4407 0.4586 0.4403 0.4131 0.56 0.74 0.46 0.45 0.43 rs7099565 COSM3751550 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.473 N 1 0.090 P -0.355 0.031 N 0.81 0.485 T 0.84 0.018 N 0.017 0.003 -0.928 0.445 T 0.000 0.000 T . . . 0.834 0.173 9.670 0.545 0.051 0.055 0.112 N c -0.834 -0.570 0.999 0.399 0.732 0.924 0 4.56 0.555 2.559 0.453 0.244 0.267 1.000 0.715 0.975 0.474 8.283 0.309 Pseudouridine synthase II\x2c N-terminal|Pseudouridine synthase\x2c catalytic domain ENSG00000165832.4|ENSG00000165832.4|ENSG00000165832.4|ENSG00000165832.4|ENSG00000165832.4|ENSG00000107518.12|ENSG00000165832.4|ENSG00000236799.1 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Testis 0.4121 0.7504 0.2452 0.5175 0.0393 0.4329 0.4583 0.4442 0.4117 0.5057 0.7474 0.2995 0.5430 0.0321 0.4364 0.4462 0.4622 hom 1688.25 59 10 116719543 . G A 1688.25 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1643;MQ=57.85;MQ0=0;QD=28.61;VQSLOD=6.0943;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1721,129,0 10 116889272 116889272 A G exonic ATRNL1 synonymous SNV ATRNL1:NM_001276282:exon5:c.A804G:p.L268L,ATRNL1:NM_207303:exon5:c.A804G:p.L268L 0.018 0.014 0.02 0.001 0.029 0.027 0.0224 0.0177 0.0119 0.0030 0.0254 0.0257 0.0242 0.0284 0.025 0.015 0.031 0.011 0.016 rs77597486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0230 0.0166 0.0125 0.0179 0.0028 0.0260 0.0280 0.0259 0.0299 0.0201 0.0162 0.0155 0.0397 0.0006 0.0221 0.0239 0.0183 het 1337.99 120 10 116889272 . A G 1337.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.257;DP=120;Dels=0.00;FS=8.018;HRun=0;HaplotypeScore=3.8869;MQ=59.50;MQ0=0;MQRankSum=-0.442;QD=11.15;ReadPosRankSum=0.169;VQSLOD=3.9800;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,55:120:99:1368,0,1755 10 116931101 116931101 - TT exonic ATRNL1 frameshift insertion ATRNL1:NM_001276282:exon9:c.1399_1400insTT:p.L467_468ins* 0.95 0.83 0.98 1. 1. 1. 0.9865 0.8504 0.9919 1 1 0.9993 0.9955 0.9998 0.95 0.86 1. 0.076 . rs397754330 COSN15648010;COSN15648025;COSN15648009;COSN15648013;COSN15648014;COSN15648007;COSN15648022;COSN15648019;COSN15648020;COSN15648015;COSN15648018;COSN15648006;COSN15648008;COSN15648017;COSN15648011;COSN15648026;COSN15648021;COSN15648023;COSN15648012;COSN15648024;COSN15648016;COSN15648027 22(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9890 0.8518 0.9911 0.9972 1 1 0.9994 0.9932 0.9998 0.9582 0.8546 0.9880 1 1 1 0.9996 0.9918 hom 2122.87 44 10 116931101 . C CTT 2122.87 Mask AC=2;AF=1.00;AN=2;DP=44;FS=0.000;HRun=1;HaplotypeScore=95.8840;MQ=57.40;MQ0=0;QD=48.25;set=variant2 GT:AD:DP:GQ:PL 1/1:9,35:44:99:2165,117,0 10 117075175 117075175 G A exonic ATRNL1 nonsynonymous SNV ATRNL1:NM_207303:exon18:c.G2966A:p.S989N 0.97 0.94 0.98 1. 0.97 0.96 0.9738 0.9518 0.9852 0.9970 0.9746 0.9739 0.9758 0.9671 0.96 0.96 0.97 0.99 0.98 rs1953758 . . . . . . . . . . . . . 0.822 0.029 T 0.0 0.026 B 0.0 0.040 B 0.198 0.167 N 1 0.182 P -0.315 0.036 N 2.51 0.143 T -0.17 0.096 N 0.013 0.051 -0.991 0.324 T 0.000 0.000 T . . . 0.097 0.103 3.579 0.492 0.041 0.012 0.042 N c -1.360 -1.330 0.000 0.012 0.554 0.246 0 -2.54 0.059 -0.614 0.057 -0.109 0.115 0.000 0.063 0.987 0.523 11.475 0.494 . . . 0.9740 0.9544 0.9843 0.9820 0.9973 0.9741 0.9716 0.9715 0.9657 0.9708 0.9529 0.9773 0.9603 0.9994 0.9780 0.9756 0.9807 het 1374.97 134 10 117075175 . G A 1374.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.052;DP=134;Dels=0.00;FS=2.198;HRun=1;HaplotypeScore=0.8941;MQ=59.34;MQ0=0;MQRankSum=0.000;QD=10.26;ReadPosRankSum=-0.545;VQSLOD=6.7272;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,61:134:99:1405,0,2058 10 117226713 117226713 T C exonic ATRNL1 synonymous SNV ATRNL1:NM_207303:exon23:c.T3447C:p.N1149N 0.06 0.003 0.15 0.13 0.022 0.044 0.0490 0.0055 0.1873 0.1627 0.0334 0.0197 0.0478 0.0444 0.017 0.0066 0.022 0.022 0.0082 rs17093114 COSM147054 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0544 0.0055 0.1752 0.0301 0.1590 0.0343 0.0186 0.0453 0.0437 0.0275 0.0060 0.1341 0.0430 0.1468 0.0350 0.0200 0.0195 het 429.99 37 10 117226713 . T C 429.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.350;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=-0.198;QD=11.62;ReadPosRankSum=0.350;VQSLOD=6.7363;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,20:37:99:460,0,426 10 117228794 117228794 A G exonic ATRNL1 synonymous SNV ATRNL1:NM_207303:exon24:c.A3609G:p.T1203T 0.34 0.29 0.47 0.17 0.49 0.36 0.4366 0.3440 0.4056 0.1924 0.4126 0.5083 0.4477 0.3622 0.46 0.35 0.51 0.3 0.51 rs10885721 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4363 0.3354 0.4025 0.5733 0.1824 0.4079 0.4991 0.4560 0.3576 0.4196 0.3296 0.4027 0.5828 0.1769 0.4225 0.4947 0.4239 het 440.90 44 10 117228794 . A G 440.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.896;DP=44;Dels=0.00;FS=6.522;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.303;QD=10.02;ReadPosRankSum=0.498;VQSLOD=4.6918;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,19:44:99:471,0,627 10 117849353 117849353 T C exonic GFRA1 nonsynonymous SNV GFRA1:NM_001348099:exon5:c.A733G:p.T245A,GFRA1:NM_145793:exon7:c.A1081G:p.T361A,GFRA1:NM_001145453:exon8:c.A1081G:p.T361A,GFRA1:NM_001348096:exon8:c.A1081G:p.T361A,GFRA1:NM_001348097:exon9:c.A1096G:p.T366A,GFRA1:NM_001348098:exon9:c.A1096G:p.T366A,GFRA1:NM_005264:exon9:c.A1096G:p.T366A 0.12 0.081 0.13 0.16 0.086 0.13 0.1035 0.0892 0.1405 0.1540 0.0882 0.0861 0.1098 0.1359 . . . 0.11 0.098 rs2072276 COSM4415008;COSM4415009 1(haematopoietic_and_lymphoid_tissue);3(upper_aerodigestive_tract) . . . . . . . . . . . 0.921 0.023 T 0.255 0.323 B 0.053 0.302 B 0.000 0.559 N 0.026 0.426 P 1.71 0.444 L 1.52 0.307 T -1.16 0.297 N 0.068 0.127 -1.052 0.140 T 0.000 0.001 T . . . 0.465 0.139 7.156 0.750 0.105 0.923 0.551 D c -0.082 0.072 0.002 0.090 0.554 0.283 0 5.04 0.672 3.732 0.545 1.061 0.807 1.000 0.715 0.998 0.697 6.794 0.228 . . . 0.1043 0.0894 0.1375 0.0807 0.1502 0.0836 0.0869 0.1075 0.1346 0.0912 0.0853 0.1289 0.0993 0.1369 0.0868 0.0877 0.1029 het 1361.13 89 10 117849353 . T C 1361.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.166;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5312;MQ=59.74;MQ0=0;MQRankSum=0.605;QD=15.29;ReadPosRankSum=-2.157;VQSLOD=4.7821;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,53:89:99:1391,0,968 10 117884950 117884950 G A exonic GFRA1 synonymous SNV GFRA1:NM_001348099:exon2:c.C189T:p.N63N,GFRA1:NM_145793:exon4:c.C537T:p.N179N,GFRA1:NM_001145453:exon5:c.C537T:p.N179N,GFRA1:NM_001348096:exon5:c.C537T:p.N179N,GFRA1:NM_001348097:exon6:c.C552T:p.N184N,GFRA1:NM_001348098:exon6:c.C552T:p.N184N,GFRA1:NM_005264:exon6:c.C552T:p.N184N 0.48 0.25 0.65 0.55 0.55 0.56 0.5567 0.3048 0.7036 0.5905 0.5721 0.5649 0.5828 0.5543 0.48 0.32 0.57 0.51 0.43 rs2245020 COSM147055 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5685 0.3030 0.7020 0.5783 0.5874 0.5738 0.5627 0.5630 0.5592 0.4934 0.2964 0.6830 0.5629 0.5924 0.5702 0.5641 0.5449 hom 3607.19 111 10 117884950 . G A 3607.19 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8332;MQ=60.00;MQ0=0;QD=32.50;VQSLOD=9.1967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3607,295,0 10 118231360 118231360 G A exonic PNLIPRP3 nonsynonymous SNV PNLIPRP3:NM_001011709:exon10:c.G1141A:p.V381I 0.96 0.87 0.99 1. 1. 1. 0.9836 0.8243 0.9909 1 1 0.9991 0.9934 0.9999 0.96 0.89 1. 0.94 1. rs10736251 . . . . . . . . . . . . . 0.21 0.196 T 0.0 0.026 B 0.0 0.013 B 0.224 0.035 N 1 0.090 P -0.69 0.019 N -0.09 0.641 T -0.39 0.136 N 0.006 0.002 -0.948 0.414 T 0.000 0.000 T . . . -0.820 0.039 0.039 0.732 0.099 0.000 0.003 N c -1.964 -2.004 0.432 0.204 0.487 0.133 0 -7.38 0.013 -0.258 0.087 -2.468 0.003 0.000 0.063 0.000 0.016 10.306 0.427 PLAT/LH2 domain . . 0.9870 0.8243 0.9893 0.9989 1 0.9999 0.9992 0.9925 0.9999 0.9528 0.8356 0.9952 0.9967 1 1 0.9987 0.9908 hom 5499.23 173 10 118231360 . G A 5499.23 Mask AC=2;AF=1.00;AN=2;DP=173;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3880;MQ=58.52;MQ0=0;QD=31.79;VQSLOD=8.0236;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5498,442,0 10 118231363 118231363 A G exonic PNLIPRP3 nonsynonymous SNV PNLIPRP3:NM_001011709:exon10:c.A1144G:p.R382G 0.97 0.89 0.99 1. 1. 1. 0.9894 0.8891 0.9934 1 1 0.9993 0.9945 1 0.96 0.89 1. 0.97 1. rs1897519 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.063 0.221 N 1 0.090 P -2.435 0.001 N 0.59 0.540 T 6.8 0.000 N 0.022 0.005 -0.965 0.382 T 0.000 0.000 T . . . -0.240 0.073 0.902 0.160 0.004 0.000 0.002 N c -1.503 -1.339 0.004 0.106 0.487 0.133 0 4.18 0.483 0.644 0.243 0.003 0.136 0.002 0.151 0.010 0.111 9.955 0.406 PLAT/LH2 domain . . 0.9915 0.8876 0.9927 0.9989 1 0.9999 0.9993 0.9934 1 0.9698 0.8959 0.9964 0.9967 1 1 0.9988 0.9908 hom 5363.40 165 10 118231363 . A G 5363.40 Mask AC=2;AF=1.00;AN=2;DP=165;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.3880;MQ=58.44;MQ0=0;QD=32.51;VQSLOD=8.4929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:165:99:5363,415,0 10 118313265 118313265 T C exonic PNLIP synonymous SNV PNLIP:NM_000936:exon6:c.T486C:p.N162N 0.84 0.86 0.84 0.67 0.92 0.92 0.8816 0.8691 0.8379 0.6538 0.9108 0.9105 0.9029 0.9094 0.9 0.87 0.92 0.84 0.9 rs2915748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8817 0.8668 0.8386 0.8764 0.6577 0.9164 0.9157 0.8980 0.9111 0.8913 0.8787 0.8477 0.8874 0.6428 0.9142 0.9223 0.9 hom 3233.06 111 10 118313265 . T C 3233.06 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=29.13;VQSLOD=8.7831;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3266,259,0 10 118363642 118363642 T C exonic PNLIPRP1 synonymous SNV PNLIPRP1:NM_001303135:exon11:c.T1164C:p.S388S,PNLIPRP1:NM_006229:exon11:c.T1164C:p.S388S 0.71 0.54 0.76 0.9 0.69 0.71 0.7192 0.5601 0.8035 0.9004 0.6196 0.7154 0.6914 0.7221 0.66 0.57 0.71 0.66 0.68 rs3010501 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7223 0.5608 0.7879 0.7614 0.9014 0.6319 0.7123 0.7194 0.7205 0.6692 0.5589 0.7723 0.8146 0.9049 0.6360 0.7077 0.6551 het 1410.70 88 10 118363642 . T C 1410.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.901;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8904;MQ=60.00;MQ0=0;MQRankSum=-0.423;QD=16.03;ReadPosRankSum=0.716;VQSLOD=5.5150;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,48:88:99:1441,0,1017 10 118383463 118383463 - G exonic PNLIPRP2 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. . . rs56189579 COSM5713181;COSM5713180 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 3233.06 80 10 118383463 . A AG 3233.06 Mask AC=2;AF=1.00;AN=2;DP=80;FS=0.000;HRun=1;HaplotypeScore=147.8984;MQ=59.28;MQ0=0;QD=40.41;set=variant2 GT:AD:DP:GQ:PL 1/1:2,78:80:99:3276,220,0 10 119043554 119043554 C T exonic PDZD8 nonsynonymous SNV PDZD8:NM_173791:exon5:c.G2690A:p.R897Q 0.033 0.003 0.036 0.014 0.049 0.073 0.0497 0.0083 0.0245 0.0092 0.0334 0.0592 0.0432 0.0830 0.041 0.0091 0.057 0.054 0.057 rs363294 COSM4987733 1(soft_tissue) . . . . . . . . . . . 0.048 0.400 D 0.009 0.139 B 0.005 0.104 B 0.004 0.346 N 1.000 0.090 N 0.805 0.203 L -2.11 0.862 D -0.65 0.189 N 0.039 0.040 -0.854 0.517 T 0.083 0.324 T . . . 2.175 0.322 17.34 0.986 0.426 0.576 0.302 D c -0.467 -0.347 0.205 0.182 0.707 0.730 0 1.73 0.235 0.870 0.275 0.935 0.490 0.591 0.274 0.998 0.697 10.257 0.424 . . . 0.0493 0.0085 0.0225 0.1102 0.0082 0.0341 0.0575 0.0467 0.0842 0.0383 0.0103 0.0251 0.1126 0.0068 0.0341 0.0574 0.0519 het 956.90 64 10 119043554 . C T 956.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.557;DP=64;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;MQRankSum=-0.852;QD=14.95;ReadPosRankSum=0.289;VQSLOD=7.0695;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,32:64:99:987,0,789 10 119768551 119768551 C T exonic RAB11FIP2 synonymous SNV RAB11FIP2:NM_014904:exon5:c.G1497A:p.P499P,RAB11FIP2:NM_001330167:exon6:c.G1557A:p.P519P 0.79 0.7 0.88 0.58 0.96 0.88 0.8967 0.7242 0.8844 0.5840 0.9278 0.9607 0.9163 0.9056 0.89 0.73 0.96 0.74 0.98 rs7923321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8992 0.7183 0.8847 0.9203 0.5872 0.9302 0.9653 0.9291 0.9056 0.8617 0.7062 0.8954 0.9371 0.5872 0.9247 0.9591 0.9267 hom 2722.91 90 10 119768551 . C T 2722.91 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4715;MQ=58.29;MQ0=0;QD=30.25;VQSLOD=8.7087;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2756,220,0 10 120353910 120353910 T C exonic PRLHR nonsynonymous SNV PRLHR:NM_004248:exon2:c.A847G:p.I283V 0.98 0.92 0.99 1. 1. 1. 0.9945 0.9367 0.9989 1 1 0.9997 0.9988 0.9998 0.98 0.94 1. 0.55 0.79 rs1613448 COSM3749082 7(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.189 P -1.375 0.006 N 1.08 0.394 T 0.29 0.042 N 0.114 0.124 -0.945 0.419 T 0.000 0.000 T . . . -0.463 0.058 0.271 0.758 0.108 0.001 0.007 N c -0.878 -0.606 1.000 0.500 0.598 0.340 0 4.38 0.519 4.072 0.570 0.067 0.174 0.999 0.424 0.883 0.370 12.564 0.555 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9954 0.9366 0.9976 0.9999 1 1 0.9997 0.9972 0.9999 0.9830 0.9402 0.9964 1 1 1 0.9999 0.9990 hom 2158.24 65 10 120353910 . T C 2158.24 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=33.20;VQSLOD=10.0497;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2191,184,0 10 120354109 120354109 G T exonic PRLHR synonymous SNV PRLHR:NM_004248:exon2:c.C648A:p.G216G 0.0022 . 0.0014 . 0.0099 . 0.0086 0.0022 0.0025 0 0.0070 0.0143 0 0.0022 0.0048 0.0005 0.0071 . . rs8192521 COSM3666696 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0047 0.0017 0.0024 0.0024 0 0.0020 0.0084 0.0040 0.0017 0.0047 0.0016 0.0095 0.0033 0 0.0009 0.0078 0.0020 het 149.03 11 10 120354109 . G T 149.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.181;DP=11;Dels=0.00;FS=2.463;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.143;QD=13.55;ReadPosRankSum=0.387;VQSLOD=5.8765;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:179,0,160 10 120828969 120828969 A G exonic EIF3A synonymous SNV EIF3A:NM_003750:exon6:c.T939C:p.D313D 0.79 0.39 0.92 0.88 0.97 0.95 0.9238 0.4822 0.9591 0.8894 0.9868 0.9745 0.9623 0.9599 0.82 0.51 0.97 0.72 0.9 rs7908387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9339 0.4776 0.9598 0.9811 0.8848 0.9880 0.9731 0.9525 0.9604 0.8316 0.4816 0.9630 0.9868 0.8758 0.9900 0.9742 0.9623 hom 1388.52 48 10 120828969 . A G 1388.52 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;QD=28.93;VQSLOD=8.5629;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1422,120,0 10 120919246 120919246 T C exonic SFXN4 synonymous SNV SFXN4:NM_213649:exon6:c.A354G:p.A118A 0.98 0.94 0.99 1. 1. 1. 0.9950 0.9467 0.9972 1 1 0.9997 0.9967 0.9999 0.98 0.95 1. 0.97 1. rs2181118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9961 0.9490 0.9965 0.9996 1 1 0.9997 0.9980 1.0000 0.9849 0.9476 0.9952 1 1 1 0.9997 0.9969 hom 3833.89 131 10 120919246 . T C 3833.89 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8956;MQ=58.68;MQ0=0;QD=29.27;VQSLOD=7.4090;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:3833,310,0 10 120920588 120920588 T C exonic SFXN4 synonymous SNV SFXN4:NM_213649:exon4:c.A258G:p.Q86Q 0.49 0.43 0.45 0.72 0.44 0.44 0.4819 0.4243 0.4371 0.7196 0.4230 0.4844 0.4570 0.4400 0.47 0.43 0.48 0.51 0.44 rs10749291 COSM5618796 1(breast) Benign not_specified RCV000425162.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4835 0.4276 0.4466 0.5383 0.7300 0.4236 0.4831 0.4692 0.4429 0.4670 0.4223 0.4248 0.5533 0.7444 0.4307 0.4725 0.4643 het 1255.73 95 10 120920588 . T C 1255.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DP=95;Dels=0.00;FS=1.162;HRun=1;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=0.796;QD=13.22;ReadPosRankSum=-1.903;VQSLOD=5.7445;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,43:95:99:1286,0,1502 10 120933324 120933324 G A exonic PRDX3 synonymous SNV PRDX3:NM_001302272:exon4:c.C372T:p.D124D,PRDX3:NM_006793:exon4:c.C372T:p.D124D 0.95 0.94 0.93 0.91 1. 0.98 0.9732 0.9441 0.9023 0.9203 0.9989 0.9918 0.9758 0.9832 0.98 0.94 0.99 0.92 0.96 rs3758609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9711 0.9430 0.9064 0.9950 0.9172 0.9987 0.9915 0.9790 0.9824 0.9746 0.9434 0.9294 0.9934 0.9192 0.9997 0.9941 0.9868 hom 5443.20 175 10 120933324 . G A 5443.20 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.712;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8494;MQ=59.73;MQ0=0;MQRankSum=1.334;QD=31.10;ReadPosRankSum=0.557;VQSLOD=6.2516;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,173:175:99:5443,433,0 10 121436362 121436362 A G exonic BAG3 synonymous SNV BAG3:NM_004281:exon4:c.A1296G:p.V432V 0.71 0.75 0.72 0.49 0.8 0.76 0.7409 0.7517 0.6310 0.5208 0.7299 0.7819 0.7632 0.7637 0.77 0.75 0.78 0.7 0.76 rs196295 . . Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy\x2c_Dominant|Dilated_Cardiomyopathy\x2c_Dominant RCV000037886.8|RCV000243961.1|RCV000280713.1|RCV000399004.1 MedGen|MedGen|MedGen|MedGen CN169374|CN230736|CN239446|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7384 0.7530 0.6405 0.8181 0.5160 0.7422 0.7841 0.7623 0.7641 0.7508 0.7533 0.6439 0.8079 0.5216 0.7437 0.7798 0.7622 hom 3097.31 102 10 121436362 . A G 3097.31 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4670;MQ=57.69;MQ0=0;QD=30.37;VQSLOD=7.7527;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3130,241,0 10 121679013 121679013 A G exonic SEC23IP nonsynonymous SNV SEC23IP:NM_007190:exon11:c.A1930G:p.K644E 0.75 0.78 0.72 0.84 0.67 0.72 0.7164 0.7850 0.7665 0.8177 0.6659 0.6819 0.6685 0.7469 0.71 0.78 0.67 0.64 0.59 rs2475298 COSM5438358 1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.523 N 1.000 0.090 P -1.575 0.004 N 1.0 0.414 T 1.43 0.008 N 0.035 0.071 -0.966 0.380 T 0.000 0.000 T . . . 0.675 0.158 8.663 0.755 0.107 0.025 0.070 N c -0.845 -0.549 1.000 0.747 0.722 0.854 0 5.15 0.702 3.978 0.563 0.048 0.160 1.000 0.715 0.996 0.625 10.432 0.434 Sterile alpha motif domain ENSG00000107651.8 Thyroid 0.7141 0.7842 0.7610 0.7248 0.8240 0.6536 0.6773 0.6915 0.7441 0.7089 0.7934 0.7572 0.75 0.8171 0.6518 0.6597 0.6796 hom 3654.77 121 10 121679013 . A G 3654.77 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7530;MQ=58.69;MQ0=0;QD=30.20;VQSLOD=8.4871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3654,283,0 10 122624679 122624679 G A exonic WDR11 synonymous SNV WDR11:NM_018117:exon6:c.G834A:p.T278T 0.32 0.17 0.41 0.42 0.33 0.36 0.3419 0.1826 0.5248 0.4230 0.2835 0.3362 0.3414 0.3183 0.28 0.18 0.34 0.22 0.33 rs10886789 COSM147066 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3525 0.1808 0.5155 0.4019 0.4194 0.2870 0.3345 0.3505 0.3197 0.2973 0.1778 0.4916 0.4106 0.3998 0.2921 0.3424 0.3200 het 1505.27 125 10 122624679 . G A 1505.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.942;DP=125;Dels=0.00;FS=0.695;HRun=0;HaplotypeScore=2.6996;MQ=58.09;MQ0=0;MQRankSum=0.528;QD=12.04;ReadPosRankSum=-1.630;VQSLOD=5.2565;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,58:125:99:1535,0,1804 10 122645376 122645376 A T exonic WDR11 synonymous SNV WDR11:NM_018117:exon15:c.A1899T:p.A633A 0.4 0.43 0.44 0.42 0.33 0.36 0.3637 0.4174 0.5358 0.4238 0.2836 0.3369 0.3546 0.3186 0.36 0.42 0.34 0.3 0.32 rs7899928 COSM147067 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3701 0.4211 0.5290 0.4048 0.4197 0.2872 0.3354 0.3621 0.3201 0.3665 0.4191 0.5036 0.42 0.4028 0.2923 0.3423 0.3378 het 1299.91 119 10 122645376 . A T 1299.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.353;DP=119;Dels=0.00;FS=5.973;HRun=0;HaplotypeScore=6.0093;MQ=58.65;MQ0=0;MQRankSum=-0.222;QD=10.92;ReadPosRankSum=0.437;VQSLOD=3.9603;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,52:119:99:1330,0,1789 10 122663585 122663585 G A exonic WDR11 synonymous SNV WDR11:NM_018117:exon24:c.G2958A:p.L986L 0.68 0.88 0.67 0.52 0.65 0.61 0.6644 0.8577 0.6865 0.5284 0.6660 0.6663 0.6471 0.5915 0.72 0.86 0.65 0.62 0.65 rs1652727 COSM3751573 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6603 0.8579 0.6782 0.7080 0.5273 0.6690 0.6604 0.6694 0.5932 0.7080 0.8566 0.6818 0.7318 0.5025 0.6723 0.6557 0.6643 het 1152.72 95 10 122663585 . G A 1152.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.010;DP=95;Dels=0.00;FS=2.878;HRun=0;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;MQRankSum=-0.950;QD=12.13;ReadPosRankSum=0.876;VQSLOD=6.2856;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,50:95:99:1183,0,1169 10 122665459 122665459 C G exonic WDR11 synonymous SNV WDR11:NM_018117:exon27:c.C3363G:p.V1121V 0.16 0.013 0.23 0.34 0.11 0.15 0.1497 0.0311 0.3333 0.3438 0.0638 0.1238 0.1090 0.1354 0.096 0.033 0.13 0.087 0.13 rs3740307 COSM147069 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1568 0.0299 0.3247 0.1214 0.3406 0.0632 0.1246 0.1340 0.1337 0.1074 0.0332 0.2955 0.1325 0.3199 0.0721 0.1244 0.1151 het 1462.13 124 10 122665459 . C G 1462.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.394;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.99;MQ0=0;MQRankSum=2.829;QD=11.79;ReadPosRankSum=0.741;VQSLOD=5.2478;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,56:124:99:1492,0,1936 10 123298158 123298158 T C exonic FGFR2 synonymous SNV FGFR2:NM_001144916:exon3:c.A351G:p.V117V,FGFR2:NM_001144918:exon4:c.A351G:p.V117V,FGFR2:NM_023029:exon4:c.A429G:p.V143V,FGFR2:NM_001144913:exon5:c.A696G:p.V232V,FGFR2:NM_001144914:exon5:c.A696G:p.V232V,FGFR2:NM_001144915:exon5:c.A429G:p.V143V,FGFR2:NM_001144919:exon5:c.A429G:p.V143V,FGFR2:NM_000141:exon6:c.A696G:p.V232V,FGFR2:NM_001144917:exon6:c.A696G:p.V232V,FGFR2:NM_001320658:exon6:c.A696G:p.V232V,FGFR2:NM_022970:exon6:c.A696G:p.V232V 0.8 0.73 0.8 0.94 0.79 0.74 0.7797 0.7477 0.8188 0.9234 0.7464 0.7711 0.7952 0.7442 0.77 0.75 0.78 0.87 0.75 rs1047100 . . Benign|Benign|Benign|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Crouzon_syndrome|Craniosynostosis|Jackson-Weiss_syndrome|Cutis_Gyrata_syndrome_of_Beare_and_Stevenson|Levy-Hollister_syndrome|Isolated_coronal_synostosis|Pfeiffer_syndrome|Saethre-Chotzen_syndrome|Acrocephalosyndactyly_type_I RCV000250550.2|RCV000264031.1|RCV000268420.1|RCV000270961.1|RCV000308616.1|RCV000316516.1|RCV000321550.1|RCV000363146.1|RCV000365600.1|RCV000378516.1 MedGen|MeSH:MedGen:OMIM:SNOMED_CT|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen|MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|D003394:C0010273:123500:28861008|HP:0001363:C1849943|C0795998:123150:ORPHA1540|C1852406:123790|C0265269:149730:23817003|CN043619|C1863356:101600|C0175699:101400:83015004|C0001193:101200:ORPHA87:205258009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7813 0.7502 0.8039 0.8161 0.9236 0.7544 0.7690 0.7900 0.7438 0.7635 0.7530 0.8126 0.8676 0.9030 0.7590 0.7519 0.7459 hom 4248.68 127 10 123298158 . T C 4248.68 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7428;MQ=59.21;MQ0=0;QD=33.45;VQSLOD=8.4123;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4248,325,0 10 123549691 123549691 T G exonic ATE1 synonymous SNV ATE1:NM_001288735:exon9:c.A1083C:p.P361P,ATE1:NM_001288734:exon10:c.A1026C:p.P342P,ATE1:NM_001001976:exon11:c.A1371C:p.P457P,ATE1:NM_001288736:exon11:c.A1350C:p.P450P,ATE1:NM_007041:exon11:c.A1371C:p.P457P 0.5 0.49 0.48 0.54 0.43 0.57 0.4694 0.4698 0.4499 0.5589 0.4649 0.4465 0.4659 0.5302 0.46 0.48 0.44 0.47 0.38 rs35350755 COSM3751574;COSM3751575 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4676 0.4663 0.4513 0.3857 0.5568 0.4653 0.4496 0.4648 0.5298 0.4698 0.4635 0.4460 0.3477 0.5653 0.4762 0.4649 0.4795 hom 3387.73 116 10 123549691 . T G 3387.73 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8268;MQ=58.01;MQ0=0;QD=29.20;VQSLOD=7.4202;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3387,268,0 10 123596254 123596254 T C exonic ATE1 synonymous SNV ATE1:NM_001288735:exon8:c.A948G:p.S316S,ATE1:NM_001288734:exon9:c.A891G:p.S297S,ATE1:NM_001001976:exon10:c.A1236G:p.S412S,ATE1:NM_001288736:exon10:c.A1215G:p.S405S,ATE1:NM_007041:exon10:c.A1236G:p.S412S 0.89 0.88 0.79 0.93 0.92 0.9 0.8979 0.8654 0.7508 0.9300 0.9228 0.9235 0.9246 0.8893 0.91 0.87 0.93 0.96 0.84 rs4237536 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8958 0.8646 0.7582 0.9512 0.9336 0.9275 0.9220 0.9115 0.8868 0.9075 0.8726 0.7572 0.9636 0.9309 0.9203 0.9283 0.9255 hom 1974.26 72 10 123596254 . T C 1974.26 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.63;MQ0=0;QD=27.42;VQSLOD=7.6149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2007,150,0 10 123673339 123673339 T C exonic ATE1 synonymous SNV ATE1:NM_001288735:exon2:c.A15G:p.L5L,ATE1:NM_001001976:exon4:c.A303G:p.L101L,ATE1:NM_001288736:exon4:c.A282G:p.L94L,ATE1:NM_007041:exon4:c.A303G:p.L101L 0.9 0.9 0.78 0.93 0.92 0.92 0.9030 0.8864 0.7532 0.9313 0.9171 0.9240 0.9260 0.9118 0.92 0.89 0.93 0.95 0.89 rs10749435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8995 0.8859 0.7642 0.9527 0.9349 0.9228 0.9234 0.9106 0.9108 0.9117 0.8899 0.7613 0.9768 0.9334 0.9144 0.9275 0.9257 hom 1546.88 54 10 123673339 . T C 1546.88 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;QD=28.65;VQSLOD=8.5543;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1580,117,0 10 123810060 123810060 G A exonic TACC2 synonymous SNV TACC2:NM_001291876:exon3:c.G141A:p.A47A,TACC2:NM_001291877:exon3:c.G141A:p.A47A,TACC2:NM_206861:exon3:c.G141A:p.A47A,TACC2:NM_206862:exon3:c.G141A:p.A47A 0.15 0.2 0.26 0.13 0.079 0.11 0.1193 0.1684 0.3010 0.1481 0.1133 0.0777 0.1159 0.1170 0.1 0.16 0.074 0.12 0.11 rs11200367 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1250 0.1647 0.2888 0.0406 0.1517 0.1123 0.0789 0.1089 0.1174 0.1165 0.1689 0.2578 0.0433 0.1628 0.1203 0.0740 0.1151 het 677.25 50 10 123810060 . G A 677.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.129;DP=50;Dels=0.00;FS=4.404;HRun=0;HaplotypeScore=0.8321;MQ=58.78;MQ0=0;MQRankSum=2.089;QD=13.55;ReadPosRankSum=-0.426;VQSLOD=5.4129;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,30:50:99:707,0,510 10 123844172 123844172 G T exonic TACC2 nonsynonymous SNV TACC2:NM_001291876:exon4:c.G2157T:p.E719D,TACC2:NM_001291877:exon4:c.G2157T:p.E719D,TACC2:NM_206862:exon4:c.G2157T:p.E719D 0.017 0.0015 0.022 . 0.06 0.0092 0.0366 0.0084 0.0199 0 0.0460 0.0539 0.0346 0.0116 0.039 0.0095 0.054 0.011 0.041 rs41288002 . . . . . . . . . . . . . 0.0 0.912 D 0.229 0.288 B 0.081 0.275 B 0.003 0.357 N 1 0.090 P 1.04 0.263 L 3.67 0.046 T -0.6 0.178 N 0.018 0.065 -1.013 0.258 T 0.002 0.005 T . . . 1.289 0.219 12.21 0.996 0.734 0.242 0.221 N c -0.973 -0.966 1.000 0.500 0.615 0.372 0 2.56 0.297 0.764 0.260 0.139 0.223 0.855 0.303 0.363 0.248 7.231 0.251 . . . 0.0358 0.0082 0.0236 0.0246 0.0001 0.0439 0.0549 0.0383 0.0114 0.0359 0.0095 0.0274 0.0132 0 0.0446 0.0533 0.0458 het 1529.59 103 10 123844172 . G T 1529.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.811;DP=103;Dels=0.00;FS=17.132;HRun=0;HaplotypeScore=1.6918;MQ=59.41;MQ0=0;MQRankSum=-1.028;QD=14.85;ReadPosRankSum=0.017;VQSLOD=3.1006;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,55:103:99:1560,0,1205 10 123845322 123845322 T C exonic TACC2 nonsynonymous SNV TACC2:NM_001291876:exon4:c.T3307C:p.W1103R,TACC2:NM_001291877:exon4:c.T3307C:p.W1103R,TACC2:NM_206862:exon4:c.T3307C:p.W1103R 0.99 0.96 1. 1. 1. 1. 0.9965 0.9652 0.9975 0.9999 1 0.9995 0.9989 0.9999 0.99 0.97 1. 0.97 0.95 rs7073433 . . . . . . . . . . . . . 0.322 0.135 T 0.0 0.026 B 0.0 0.013 B 0.577 0.112 N 1 0.182 P 0 0.065 N 4.25 0.027 T 0.47 0.031 N 0.021 0.049 -0.924 0.451 T 0.000 0.000 T . . . 0.230 0.116 4.997 0.653 0.075 0.001 0.006 N c -1.029 -0.945 1.000 0.747 0.615 0.372 0 4.51 0.544 0.369 0.200 0.063 0.168 0.000 0.063 0.001 0.043 7.604 0.271 . . . 0.9970 0.9661 0.9961 0.9989 0.9999 1 0.9994 0.9982 0.9999 0.9900 0.9660 0.9988 0.9967 1 1 0.9995 0.9980 hom 2467.46 87 10 123845322 . T C 2467.46 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6634;MQ=59.30;MQ0=0;QD=28.36;VQSLOD=8.4175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2500,208,0 10 123903133 123903133 G A exonic TACC2 nonsynonymous SNV TACC2:NM_206862:exon7:c.G5746A:p.E1916K 0.09 0.069 0.11 . 0.23 0.054 0.1615 0.0779 0.0747 0.0006 0.2442 0.2256 0.1619 0.0669 0.18 0.082 0.22 0.087 0.25 rs12765679 COSM3751578 1(large_intestine) . . . . . . . . . . . 0.019 0.501 D 0.58 0.369 P 0.254 0.374 B 0.200 0.166 N 1 0.207 P 1.385 0.346 L 0.37 0.577 T -0.75 0.210 N 0.054 0.064 -1.058 0.123 T 0.000 0.000 T . . . 2.599 0.374 20.2 0.991 0.514 0.267 0.228 N c -0.626 -0.696 1.000 0.747 0.651 0.465 0 3.53 0.394 2.502 0.448 0.112 0.206 0.033 0.204 0.008 0.104 10.604 0.444 . . . 0.1596 0.0798 0.0851 0.1352 0.0003 0.2381 0.2288 0.1707 0.0676 0.1744 0.0825 0.1232 0.1126 0.0006 0.2433 0.2335 0.1933 het 1772.09 123 10 123903133 . G A 1772.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.581;DP=123;Dels=0.00;FS=2.318;HRun=2;HaplotypeScore=3.5830;MQ=59.62;MQ0=0;MQRankSum=-1.372;QD=14.41;ReadPosRankSum=0.946;VQSLOD=5.4870;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,66:123:99:1802,0,1495 10 123970530 123970530 T C exonic TACC2 nonsynonymous SNV TACC2:NM_001291878:exon3:c.T824C:p.V275A,TACC2:NM_006997:exon3:c.T824C:p.V275A,TACC2:NM_206860:exon3:c.T824C:p.V275A,TACC2:NM_206861:exon6:c.T1028C:p.V343A,TACC2:NM_001291876:exon8:c.T6455C:p.V2152A,TACC2:NM_001291877:exon8:c.T6602C:p.V2201A,TACC2:NM_206862:exon9:c.T6590C:p.V2197A 0.35 0.71 0.28 0.35 0.087 0.19 0.2029 0.6518 0.2391 0.3799 0.0883 0.1197 0.1782 0.1965 0.29 0.62 0.12 0.4 0.15 rs2295873 COSM3997780;COSM3997779 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.912 T 0.0 0.026 B 0.001 0.040 B 0.055 0.227 N 1 0.090 P -1.4 0.006 N 4.17 0.168 T 0.68 0.025 N 0.025 0.243 -0.988 0.331 T 0.000 0.000 T . . . -1.345 0.021 0.004 0.382 0.025 0.012 0.043 N c -1.430 -1.322 0.999 0.392 0.707 0.730 0 2.55 0.296 0.727 0.255 -0.858 0.029 0.000 0.063 0.000 0.016 10.331 0.428 . . . 0.1950 0.6527 0.2298 0.1486 0.3787 0.0920 0.1195 0.1715 0.1936 0.2777 0.6413 0.2303 0.1333 0.3659 0.0873 0.1142 0.1632 het 612.23 68 10 123970530 . T C 612.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.860;DP=68;Dels=0.00;FS=7.946;HRun=0;HaplotypeScore=0.7887;MQ=59.66;MQ0=0;MQRankSum=1.040;QD=9.00;ReadPosRankSum=0.790;VQSLOD=4.3977;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,27:68:99:642,0,1133 10 123970569 123970569 C T exonic TACC2 nonsynonymous SNV TACC2:NM_001291878:exon3:c.C863T:p.A288V,TACC2:NM_006997:exon3:c.C863T:p.A288V,TACC2:NM_206860:exon3:c.C863T:p.A288V,TACC2:NM_206861:exon6:c.C1067T:p.A356V,TACC2:NM_001291876:exon8:c.C6494T:p.A2165V,TACC2:NM_001291877:exon8:c.C6641T:p.A2214V,TACC2:NM_206862:exon9:c.C6629T:p.A2210V 0.1 0.061 0.14 0.12 0.076 0.15 0.1156 0.0685 0.1480 0.1261 0.0804 0.1072 0.1256 0.1636 0.099 0.071 0.11 0.14 0.11 rs2295874 COSM3930940;COSM4985183;COSM3930941 4(soft_tissue);1(urinary_tract) . . . . . . . . . . . 0.196 0.912 T 0.003 0.294 B 0.006 0.270 B 0.570 0.112 N 1 0.222 P 1.575 0.398 L 4.08 0.179 T -0.08 0.291 N 0.037 0.320 -1.001 0.297 T 0.000 0.001 T . . . 0.110 0.104 3.716 0.310 0.017 0.078 0.136 N c -0.755 -0.758 1.000 0.432 0.707 0.730 0 2.66 0.305 1.990 0.401 0.060 0.166 0.069 0.218 0.001 0.043 6.222 0.198 . . . 0.1157 0.0672 0.1402 0.0910 0.1277 0.0842 0.1099 0.1145 0.1585 0.0941 0.0659 0.1432 0.0960 0.1363 0.0768 0.1062 0.1109 het 536.29 46 10 123970569 . C T 536.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.190;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=1.081;QD=11.66;ReadPosRankSum=-1.014;VQSLOD=6.5997;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,21:46:99:566,0,709 10 123970722 123970722 T A exonic TACC2 nonsynonymous SNV TACC2:NM_001291878:exon3:c.T1016A:p.L339H,TACC2:NM_006997:exon3:c.T1016A:p.L339H,TACC2:NM_206860:exon3:c.T1016A:p.L339H,TACC2:NM_206861:exon6:c.T1220A:p.L407H,TACC2:NM_001291876:exon8:c.T6647A:p.L2216H,TACC2:NM_001291877:exon8:c.T6794A:p.L2265H,TACC2:NM_206862:exon9:c.T6782A:p.L2261H 0.089 0.0045 0.13 0.12 0.084 0.15 0.1197 0.0252 0.1507 0.1252 0.1137 0.1191 0.1317 0.1583 0.091 0.027 0.12 0.098 0.15 rs2295876 COSM4989659;COSM4989660;COSM4989661 5(soft_tissue) . . . . . . . . . . . 0.005 0.654 D 0.999 0.899 D 0.927 0.764 D 0.009 0.305 N 0.759 0.588 P 1.79 0.469 L 4.05 0.081 T -1.47 0.574 N 0.35 0.464 -1.091 0.054 T 0.001 0.003 T . . . 3.187 0.442 22.7 0.977 0.347 0.769 0.375 D c 0.455 0.398 1.000 0.517 0.707 0.730 0 5.0 0.661 3.076 0.495 1.061 0.807 0.627 0.277 0.866 0.362 9.291 0.368 . . . 0.1206 0.0235 0.1408 0.0910 0.1274 0.1142 0.1209 0.1236 0.1558 0.0923 0.0231 0.1420 0.0993 0.1361 0.1073 0.1198 0.1191 het 815.83 59 10 123970722 . T A 815.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.772;DP=59;Dels=0.00;FS=3.702;HRun=0;HaplotypeScore=0.9992;MQ=57.92;MQ0=0;MQRankSum=-0.667;QD=13.83;ReadPosRankSum=1.496;VQSLOD=3.8314;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,34:59:99:846,0,643 10 124089036 124089036 G A exonic BTBD16 nonsynonymous SNV BTBD16:NM_001318189:exon11:c.G956A:p.R319Q,BTBD16:NM_144587:exon11:c.G953A:p.R318Q 0.62 0.6 0.6 0.87 0.51 0.5 0.5608 0.6012 0.6475 0.8593 0.5936 0.5135 0.5474 0.4969 0.54 0.61 0.51 0.72 0.46 rs2421013 COSM4418949 1(haematopoietic_and_lymphoid_tissue);16(soft_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.181 0.171 N 1 0.090 P -2.015 0.002 N 2.35 0.162 T 1.91 0.005 N 0.013 0.002 -0.990 0.325 T 0.000 0.000 T . . . 0.732 0.164 9.037 0.181 0.006 0.014 0.047 N c -1.252 -1.026 0.226 0.184 0.487 0.133 0 4.63 0.570 1.455 0.346 0.168 0.246 0.642 0.279 0.111 0.193 5.453 0.158 . ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Stomach|Thyroid 0.5617 0.6082 0.6280 0.5123 0.8598 0.5936 0.5064 0.5493 0.4952 0.5637 0.6120 0.5863 0.5265 0.8519 0.5874 0.4988 0.5571 hom 3529.53 108 10 124089036 . G A 3529.53 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.25;MQ0=0;QD=32.68;VQSLOD=10.1383;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3529,271,0 10 124096035 124096035 T C exonic BTBD16 synonymous SNV BTBD16:NM_001318189:exon15:c.T1293C:p.S431S,BTBD16:NM_144587:exon15:c.T1290C:p.S430S 0.46 0.4 0.49 0.69 0.33 0.42 0.3893 0.3621 0.5432 0.6866 0.4149 0.3202 0.3852 0.4142 0.33 0.36 0.32 0.43 0.3 rs3817281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3926 0.3603 0.5235 0.2804 0.6840 0.4197 0.3165 0.3727 0.4096 0.3705 0.3612 0.4916 0.2633 0.6692 0.4257 0.3261 0.3742 het 423.52 53 10 124096035 . T C 423.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.641;DP=53;Dels=0.00;FS=11.403;HRun=3;HaplotypeScore=2.8477;MQ=59.21;MQ0=0;MQRankSum=0.475;QD=7.99;ReadPosRankSum=0.038;VQSLOD=3.9275;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,19:53:99:454,0,956 10 124096041 124096041 T C exonic BTBD16 synonymous SNV BTBD16:NM_001318189:exon15:c.T1299C:p.S433S,BTBD16:NM_144587:exon15:c.T1296C:p.S432S 0.46 0.4 0.49 0.69 0.33 0.42 0.3892 0.3621 0.5431 0.6860 0.4148 0.3200 0.3852 0.4142 0.34 0.36 0.32 0.43 0.3 rs1129973 COSM329179 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3944 0.3605 0.5283 0.2824 0.6846 0.4201 0.3172 0.3747 0.4115 0.3702 0.3607 0.4916 0.2633 0.67 0.4258 0.3259 0.3732 het 486.60 60 10 124096041 . T C 486.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.604;DP=60;Dels=0.00;FS=1.326;HRun=1;HaplotypeScore=1.9536;MQ=58.91;MQ0=0;MQRankSum=-1.627;QD=8.11;ReadPosRankSum=0.883;VQSLOD=4.2885;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,21:60:99:517,0,1136 10 124096061 124096061 A C exonic BTBD16 nonsynonymous SNV BTBD16:NM_001318189:exon15:c.A1319C:p.H440P,BTBD16:NM_144587:exon15:c.A1316C:p.H439P 0.46 0.4 0.49 0.69 0.33 0.42 0.3939 0.3645 0.5542 0.6938 0.4210 0.3243 0.3872 0.4146 0.33 0.36 0.32 0.42 0.3 rs1048347 COSM4986063 12(soft_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.327 N 1 0.090 P -2.43 0.001 N 2.37 0.160 T 1.64 0.006 N 0.062 0.047 -0.986 0.335 T 0.000 0.000 T . . . -2.323 0.005 0.001 0.385 0.026 0.001 0.006 N c -1.573 -1.476 0.989 0.317 0.497 0.185 0 1.38 0.212 0.091 0.148 -1.030 0.021 0.000 0.063 0.000 0.016 4.224 0.100 . ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7|ENSG00000138152.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Thyroid 0.3964 0.3620 0.5321 0.2838 0.6862 0.4215 0.3191 0.3767 0.4126 0.3723 0.3632 0.4964 0.2633 0.6743 0.4259 0.3274 0.3765 het 608.02 66 10 124096061 . A C 608.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.126;DP=66;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;MQRankSum=-0.740;QD=9.21;ReadPosRankSum=1.206;VQSLOD=6.1521;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,24:66:99:638,0,1196 10 124183732 124183732 T C exonic PLEKHA1 synonymous SNV PLEKHA1:NM_001001974:exon9:c.T699C:p.R233R,PLEKHA1:NM_021622:exon9:c.T699C:p.R233R,PLEKHA1:NM_001195608:exon10:c.T699C:p.R233R,PLEKHA1:NM_001330178:exon10:c.T699C:p.R233R 0.94 0.98 0.92 1. 0.82 0.96 0.8884 0.9681 0.9280 0.9996 0.8426 0.8436 0.8620 0.9530 0.88 0.96 0.84 0.95 0.75 rs4405249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8818 0.9694 0.9140 0.8650 0.9997 0.8418 0.8379 0.8630 0.9521 0.8828 0.9688 0.9033 0.8986 1 0.8224 0.8298 0.8519 hom 1413.82 43 10 124183732 . T C 1413.82 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7675;MQ=58.58;MQ0=0;QD=32.88;VQSLOD=9.7931;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1447,114,0 10 124189197 124189197 A G exonic PLEKHA1 nonsynonymous SNV PLEKHA1:NM_001001974:exon12:c.A958G:p.T320A,PLEKHA1:NM_021622:exon12:c.A958G:p.T320A 0.75 0.83 0.74 0.82 0.59 0.72 0.6788 0.8028 0.7871 0.7978 0.7117 0.6107 0.6542 0.7255 0.67 0.79 0.6 0.75 0.61 rs1045216 COSM3751580 1(skin);1(large_intestine) . . . . . . . . . . . 0.79 0.032 T 0.0 0.026 B 0.0 0.013 B 0.919 0.085 N 1.000 0.588 P -0.46 0.027 N 3.46 0.053 T 0.01 0.069 N 0.03 0.011 -1.005 0.283 T 0.000 0.000 T . . . 0.185 0.112 4.525 0.457 0.036 0.239 0.220 N c -1.001 -0.819 1.000 0.443 0.706 0.609 0 4.81 0.613 1.700 0.372 0.138 0.222 0.984 0.356 0.119 0.196 6.727 0.224 . ENSG00000254636.1|ENSG00000254636.1|ENSG00000254636.1|ENSG00000254636.1|ENSG00000254636.1|ENSG00000107679.10|ENSG00000107679.10|ENSG00000107679.10|ENSG00000107679.10|ENSG00000254636.1|ENSG00000254636.1|ENSG00000107679.10 Artery_Aorta|Artery_Tibial|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.6805 0.8030 0.7836 0.6036 0.7990 0.7116 0.6045 0.6623 0.7217 0.6974 0.8006 0.7590 0.6324 0.8014 0.7036 0.6259 0.6480 hom 4887.77 175 10 124189197 . A G 4887.77 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9664;MQ=58.94;MQ0=0;QD=27.93;VQSLOD=7.1022;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,173:175:99:4887,397,0 10 124214251 124214251 G A exonic ARMS2 nonsynonymous SNV ARMS2:NM_001099667:exon1:c.G8A:p.R3H 0.075 0.027 0.075 0.012 0.13 0.15 0.1067 0.0363 0.0596 0.0075 0.0819 0.1311 0.125 0.1436 0.099 0.036 0.13 0.076 . rs10490923 COSM1346402 2(large_intestine) Likely benign Macular_degeneration RCV000275891.1 Human_Phenotype_Ontology:MedGen HP:0000608:C0024437 . . . . . . 0.519 0.073 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 1.04 0.402 T 2.13 0.004 N 0.014 0.002 -1.008 0.275 T 0.000 0.002 T . . . -0.038 0.090 2.237 0.253 0.012 0.000 0.001 N c -1.458 -1.512 0.998 0.370 0.497 0.185 0 -0.729 0.105 -0.560 0.060 0.038 0.153 0.000 0.063 0.000 0.016 4.419 0.108 . . . 0.1053 0.0337 0.0639 0.1798 0.0077 0.0842 0.1288 0.1255 0.1436 0.0854 0.0351 0.0835 0.1755 0.0037 0.0771 0.1227 0.1033 het 1785.08 127 10 124214251 . G A 1785.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.632;DP=127;Dels=0.00;FS=10.806;HRun=0;HaplotypeScore=4.3568;MQ=59.64;MQ0=0;MQRankSum=0.959;QD=14.06;ReadPosRankSum=0.850;VQSLOD=4.1727;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,68:127:99:1815,0,1399 10 124249118 124249118 C T exonic HTRA1 synonymous SNV HTRA1:NM_002775:exon3:c.C753T:p.I251I 0.023 0.022 0.017 0.001 0.04 0.035 0.0419 0.0288 0.0132 0 0.0763 0.0509 0.0486 0.0417 0.043 0.029 0.05 0.033 0.049 rs17624021 COSM4144397 1(thyroid) not provided|Likely benign not_provided|Macular_degeneration RCV000086954.1|RCV000291036.1 MedGen|Human_Phenotype_Ontology:MedGen CN221809|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0414 0.0285 0.0152 0.0312 5.798e-05 0.0713 0.0519 0.0416 0.0427 0.0424 0.0263 0.0251 0.0364 0.0006 0.0658 0.0515 0.0479 het 1784.37 119 10 124249118 . C T 1784.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.912;DP=119;Dels=0.00;FS=7.962;HRun=1;HaplotypeScore=6.4845;MQ=59.30;MQ0=0;MQRankSum=-0.049;QD=14.99;ReadPosRankSum=-2.186;VQSLOD=3.5011;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,65:119:99:1814,0,1270 10 124331867 124331867 C T exonic DMBT1 synonymous SNV DMBT1:NM_001320644:exon5:c.C225T:p.T75T,DMBT1:NM_004406:exon5:c.C225T:p.T75T,DMBT1:NM_007329:exon5:c.C225T:p.T75T,DMBT1:NM_017579:exon5:c.C225T:p.T75T 0.99 0.96 0.99 1. 1. 1. 0.9960 0.9559 0.9974 1 1 0.9998 0.9989 0.9999 0.99 0.96 1. 0.97 . rs7084792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9968 0.9571 0.9970 1 1 1 0.9998 0.9984 0.9998 0.9900 0.9655 0.9976 1 1 1 0.9999 0.9959 hom 7979.17 250 10 124331867 . C T 7979.17 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7675;MQ=59.35;MQ0=0;QD=31.92;VQSLOD=8.6225;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7979,614,0 10 124402677 124402677 A G exonic DMBT1 synonymous SNV DMBT1:NM_004406:exon40:c.A5121G:p.P1707P,DMBT1:NM_017579:exon52:c.A6975G:p.P2325P,DMBT1:NM_001320644:exon53:c.A7002G:p.P2334P,DMBT1:NM_007329:exon53:c.A7005G:p.P2335P 0.64 0.88 0.5 0.67 0.41 0.64 0.5171 0.8223 0.5835 0.6887 0.4037 0.4249 0.4555 0.6209 0.55 0.81 0.42 0.75 . rs1052715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5112 0.8273 0.5730 0.4724 0.6805 0.3991 0.4202 0.4706 0.6226 0.5431 0.8181 0.5562 0.4570 0.6816 0.3944 0.4078 0.4732 het 3181.40 240 10 124402677 . A G 3181.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.847;DP=240;DS;Dels=0.00;FS=0.480;HRun=0;HaplotypeScore=4.6599;MQ=58.65;MQ0=0;MQRankSum=2.093;QD=13.26;ReadPosRankSum=0.770;VQSLOD=4.4914;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,122:240:99:3211,0,3160 10 124457452 124457452 C T exonic C10orf120 nonsynonymous SNV C10orf120:NM_001010912:exon3:c.G805A:p.A269T 0.81 0.84 0.73 0.81 0.75 0.88 0.7823 0.8456 0.7577 0.8000 0.6999 0.7628 0.7786 0.8627 0.79 0.85 0.75 0.79 0.73 rs2947594 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.848 0.090 N 1 0.090 P 0.2 0.092 N 1.53 0.304 T 0.47 0.031 N 0.019 0.004 -1.013 0.260 T 0.000 0.000 T . . . -0.336 0.066 0.550 0.315 0.018 0.001 0.007 N c -1.784 -1.742 0.000 0.035 0.487 0.133 0 -1.81 0.074 -0.775 0.047 -0.855 0.029 0.000 0.063 0.000 0.016 6.548 0.215 . ENSG00000107672.10 Brain_Cerebellar_Hemisphere 0.7773 0.8493 0.7538 0.8538 0.7967 0.6996 0.7560 0.7774 0.8653 0.7741 0.8552 0.7613 0.8377 0.7968 0.6861 0.7447 0.7699 het 2493.95 196 10 124457452 . C T 2493.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.676;DP=196;Dels=0.00;FS=1.787;HRun=0;HaplotypeScore=4.6632;MQ=59.76;MQ0=0;MQRankSum=-0.049;QD=12.72;ReadPosRankSum=-0.428;VQSLOD=5.6020;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,97:196:99:2524,0,2529 10 124610027 124610027 G A exonic FAM24B nonsynonymous SNV FAM24B:NM_001204364:exon3:c.C5T:p.P2L,FAM24B:NM_152644:exon3:c.C5T:p.P2L 0.5 0.48 0.46 0.49 0.58 0.49 0.5284 0.5010 0.4346 0.5103 0.6399 0.5511 0.4945 0.4862 0.54 0.52 0.55 0.49 0.56 rs1891110 COSM3751584 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.702 0.041 T 0.0 0.026 B 0.0 0.013 B 0.956 0.082 U 1.000 0.191 P . . . 1.1 0.390 T 4.99 0.000 N 0.015 0.003 -0.926 0.448 T 0.000 0.000 T . . . -0.569 0.052 0.149 0.638 0.071 0.001 0.006 N c -1.040 -1.093 1.000 0.747 0.731 0.878 0 3.0 0.336 1.217 0.318 0.134 0.217 0.001 0.137 0.001 0.043 5.076 0.139 . ENSG00000119965.8|ENSG00000119965.8|ENSG00000119965.8 Esophagus_Mucosa|Lung|Thyroid 0.5299 0.5033 0.4455 0.5187 0.5139 0.6405 0.5526 0.5317 0.4852 0.5535 0.5131 0.4434 0.5099 0.5304 0.6474 0.5638 0.5643 het 2094.89 173 10 124610027 . G A 2094.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.025;DP=173;Dels=0.00;FS=0.613;HRun=1;HaplotypeScore=4.9633;MQ=58.37;MQ0=0;MQRankSum=0.594;QD=12.11;ReadPosRankSum=0.991;VQSLOD=5.4265;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,77:173:99:2125,0,2542 10 124742792 124742792 G A exonic PSTK synonymous SNV PSTK:NM_153336:exon3:c.G513A:p.S171S 0.58 0.66 0.56 0.39 0.73 0.54 0.6370 0.6464 0.4889 0.4198 0.7097 0.7066 0.625 0.5363 0.69 0.64 0.71 0.56 0.68 rs3736583 COSM147076;COSM3751585 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6316 0.6444 0.5031 0.7186 0.4178 0.7073 0.7025 0.6614 0.5322 0.6625 0.6430 0.5084 0.7384 0.4285 0.7153 0.6925 0.6802 hom 1147.91 36 10 124742792 . G A 1147.91 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=57.72;MQ0=0;QD=31.89;VQSLOD=8.3561;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.29:1181,93,0 10 124742858 124742858 G A exonic PSTK synonymous SNV PSTK:NM_153336:exon3:c.G579A:p.R193R 0.11 0.18 0.13 0.0099 0.19 0.043 0.1327 0.1568 0.0813 0.0131 0.0873 0.1772 0.1545 0.0533 0.17 0.15 0.18 0.15 0.12 rs45498396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1303 0.1512 0.0901 0.2284 0.0136 0.0866 0.1771 0.1559 0.0551 0.1383 0.1494 0.1124 0.2219 0.0117 0.0844 0.1586 0.1273 het 779.06 72 10 124742858 . G A 779.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.299;DP=72;Dels=0.00;FS=0.927;HRun=0;HaplotypeScore=3.5250;MQ=59.22;MQ0=0;MQRankSum=1.161;QD=10.82;ReadPosRankSum=-1.346;VQSLOD=5.7443;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,32:72:99:809,0,1021 10 124742895 124742895 G C exonic PSTK nonsynonymous SNV PSTK:NM_153336:exon3:c.G616C:p.G206R 0.58 0.66 0.56 0.39 0.73 0.54 0.6339 0.6439 0.4863 0.4173 0.7080 0.7043 0.6225 0.5307 0.69 0.65 0.71 0.56 0.75 rs3736582 COSM147077;COSM3751587;COSM3751586 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.38 0.112 T 0.003 0.102 B 0.009 0.133 B 0.175 0.031 N 0.486 0.318 P 0.975 0.246 L 1.59 0.288 T -0.36 0.249 N 0.164 0.689 -0.991 0.324 T 0.000 0.000 T . . . 1.313 0.222 12.34 0.765 0.111 0.843 0.431 D c -0.035 -0.052 0.907 0.262 0.706 0.609 0 1.81 0.240 1.229 0.320 0.046 0.159 0.907 0.314 0.918 0.393 4.515 0.113 . ENSG00000196177.8|ENSG00000196177.8 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.6290 0.6442 0.4987 0.7171 0.4177 0.7065 0.7015 0.6597 0.5294 0.6618 0.6424 0.5084 0.7384 0.4265 0.7152 0.6918 0.6802 hom 2411.39 79 10 124742895 . G C 2411.39 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9921;MQ=58.43;MQ0=0;QD=30.52;VQSLOD=7.6668;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2444,199,0 10 125426565 125426565 G C exonic GPR26 synonymous SNV GPR26:NM_153442:exon1:c.G642C:p.L214L 1. 1. 1. 1. 1. 1. 0.9999 0.9991 1 1 1 1 1 1 1. 1. 1. 0.9 0.89 rs4980313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9989 1.0000 1 1 1 1.0000 0.9998 1 0.9997 0.9990 1 1 1 1 1 1 hom 709.06 25 10 125426565 . G C 709.06 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.36;VQSLOD=12.6927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:63.17:742,63,0 10 125506302 125506302 T C exonic CPXM2 nonsynonymous SNV CPXM2:NM_198148:exon14:c.A2249G:p.Q750R 0.99 0.95 1. 1. 1. 1. 0.9945 0.9510 0.9946 1 1 0.9986 0.9934 1 0.98 0.95 1. 0.95 0.97 rs7088479 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.685 0.061 N 1 0.090 P -2.36 0.001 N -3.68 0.953 D 0.94 0.015 N 0.067 0.054 -0.920 0.456 T 0.000 0.000 T . . . -0.784 0.041 0.046 0.138 0.003 0.186 0.201 N c -1.081 -0.891 0.598 0.217 0.653 0.482 0 4.34 0.511 3.057 0.494 0.016 0.142 0.994 0.380 0.757 0.323 10.297 0.426 . . . 0.9954 0.9527 0.9953 0.9920 0.9999 1 0.9988 0.9943 0.9999 0.9867 0.9550 0.9928 0.9934 1 1 0.9993 0.9980 hom 3300.15 102 10 125506302 . T C 3300.15 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=32.35;VQSLOD=9.2240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3300,265,0 10 125521533 125521533 G A exonic CPXM2 synonymous SNV CPXM2:NM_198148:exon11:c.C1632T:p.D544D 0.61 0.46 0.73 0.57 0.77 0.59 0.7071 0.5062 0.7493 0.5528 0.8077 0.7611 0.6971 0.6267 0.67 0.51 0.75 0.66 0.77 rs10794566 COSM4144415;COSM4144416 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7159 0.5069 0.7567 0.7591 0.5520 0.8067 0.7595 0.7234 0.6285 0.6781 0.5114 0.7524 0.7550 0.5180 0.8059 0.7533 0.7265 het 1649.82 115 10 125521533 . G A 1649.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.730;DP=115;Dels=0.00;FS=0.827;HRun=0;HaplotypeScore=0.9159;MQ=59.42;MQ0=0;MQRankSum=1.626;QD=14.35;ReadPosRankSum=-1.335;VQSLOD=6.0981;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,60:115:99:1680,0,1317 10 125521590 125521590 G A exonic CPXM2 synonymous SNV CPXM2:NM_198148:exon11:c.C1575T:p.Y525Y 0.65 0.61 0.74 0.57 0.77 0.59 0.7217 0.6269 0.7615 0.5534 0.8076 0.7653 0.7141 0.6312 0.71 0.63 0.75 0.69 0.79 rs10794567 COSM4144417;COSM4144418 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7288 0.6277 0.7704 0.7862 0.5531 0.8066 0.7627 0.7391 0.6330 0.7149 0.6347 0.7637 0.7914 0.5199 0.8050 0.7554 0.7403 het 2395.37 179 10 125521590 . G A 2395.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.827;DP=179;Dels=0.00;FS=1.198;HRun=0;HaplotypeScore=4.5044;MQ=58.78;MQ0=0;MQRankSum=0.728;QD=13.38;ReadPosRankSum=-2.279;VQSLOD=4.2349;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,95:179:99:2425,0,2190 10 125521626 125521626 G A exonic CPXM2 synonymous SNV CPXM2:NM_198148:exon11:c.C1539T:p.G513G 0.02 0.019 0.014 0.025 0.022 0.02 0.0208 0.0138 0.0107 0.0144 0.0141 0.0262 0.0188 0.0167 0.024 0.013 0.029 0.011 . rs62640889 COSM5763913;COSM5763914 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0198 0.0131 0.0103 0.0131 0.0169 0.0132 0.0266 0.0214 0.0173 0.0216 0.0137 0.0120 0.0066 0.0234 0.0143 0.0288 0.0184 het 2114.27 181 10 125521626 . G A 2114.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.391;DP=181;Dels=0.00;FS=1.199;HRun=0;HaplotypeScore=5.7098;MQ=58.89;MQ0=0;MQRankSum=0.339;QD=11.68;ReadPosRankSum=-3.329;VQSLOD=3.2401;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,90:181:99:2144,0,2285 10 125528048 125528048 G A exonic CPXM2 synonymous SNV CPXM2:NM_198148:exon9:c.C1293T:p.Y431Y 0.38 0.15 0.48 0.6 0.37 0.39 0.4055 0.1902 0.5389 0.6499 0.3719 0.3796 0.4407 0.4366 0.31 0.19 0.38 0.34 0.39 rs1219725 COSM3751588 1(breast);2(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3953 0.1707 0.5074 0.4764 0.6487 0.3572 0.3547 0.4021 0.3964 0.3256 0.1771 0.5060 0.4371 0.6574 0.3635 0.3543 0.3388 het 997.32 98 10 125528048 . G A 997.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.839;DP=98;Dels=0.00;FS=4.080;HRun=0;HaplotypeScore=0.9332;MQ=59.10;MQ0=0;MQRankSum=0.501;QD=10.18;ReadPosRankSum=-0.256;VQSLOD=6.3251;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,37:98:99:1027,0,1501 10 125780753 125780753 G - exonic CHST15 frameshift deletion CHST15:NM_001270765:exon6:c.1366delC:p.R456Vfs*27,CHST15:NM_014863:exon6:c.1366delC:p.R456Vfs*27 0.81 0.76 0.84 0.87 0.83 0.75 0.5990 0.5712 0.6666 0.7307 0.6767 0.5807 0.5922 0.5427 . . . 0.022 . rs5788645 COSM1346551 2(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5712 0.5522 0.6202 0.5088 0.6607 0.5766 0.5565 0.5595 0.5319 0.5816 0.5600 0.6011 0.5904 0.6823 0.5616 0.5855 0.5877 hom 96.29 11 10 125780752 . CG C 96.29 Mask AC=2;AF=1.00;AN=2;DP=11;FS=0.000;HRun=12;HaplotypeScore=57.7278;MQ=53.36;MQ0=0;QD=8.75;set=variant2 GT:AD:DP:GQ:PL 1/1:6,5:11:17.85:138,18,0 10 126089434 126089434 G A exonic OAT synonymous SNV OAT:NM_001322971:exon7:c.C813T:p.N271N,OAT:NM_001171814:exon8:c.C720T:p.N240N,OAT:NM_000274:exon9:c.C1134T:p.N378N,OAT:NM_001322965:exon9:c.C1134T:p.N378N,OAT:NM_001322974:exon9:c.C534T:p.N178N,OAT:NM_001322966:exon10:c.C1134T:p.N378N,OAT:NM_001322967:exon10:c.C1134T:p.N378N,OAT:NM_001322969:exon10:c.C1134T:p.N378N,OAT:NM_001322968:exon11:c.C1134T:p.N378N,OAT:NM_001322970:exon11:c.C1134T:p.N378N 0.41 0.14 0.53 0.64 0.36 0.5 0.4180 0.1640 0.6003 0.5898 0.3597 0.3932 0.4040 0.4829 0.32 0.17 0.39 0.29 0.32 rs11461 COSM3751589 1(thyroid);1(large_intestine) Benign|Benign OAT_POLYMORPHISM|Ornithine_aminotransferase_deficiency RCV000000184.2|RCV000380778.1 MedGen:OMIM:Orphanet:SNOMED_CT C0599035:258870:ORPHA414:276426004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4275 0.1591 0.5887 0.4387 0.5863 0.3664 0.3885 0.4190 0.4794 0.3454 0.1598 0.5465 0.4901 0.6048 0.3713 0.4011 0.4119 het 856.81 99 10 126089434 . G A 856.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.294;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9923;MQ=58.56;MQ0=0;MQRankSum=-0.973;QD=8.65;ReadPosRankSum=0.069;VQSLOD=5.1852;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,37:99:99:887,0,1493 10 126172863 126172863 A G exonic LHPP nonsynonymous SNV LHPP:NM_001167880:exon2:c.A281G:p.Q94R,LHPP:NM_001318331:exon2:c.A281G:p.Q94R,LHPP:NM_001318332:exon2:c.A281G:p.Q94R,LHPP:NM_022126:exon2:c.A281G:p.Q94R 0.9 0.99 0.87 0.94 0.85 0.8 0.8828 0.9798 0.8421 0.9435 0.8823 0.8880 0.8617 0.7987 0.92 0.97 0.89 0.9 0.92 rs6597801 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 0.998 0.225 P -0.985 0.012 N 1.95 0.225 T 1.85 0.005 N 0.047 0.028 -0.971 0.370 T 0.000 0.000 T . . . 0.802 0.170 9.477 0.244 0.011 0.069 0.128 N c -0.924 -0.655 1.000 0.454 0.706 0.609 0 3.56 0.397 5.247 0.650 -0.223 0.096 1.000 0.715 0.995 0.604 8.441 0.318 HAD-like domain|Nitrophenylphosphatase-like domain ENSG00000107902.9 Thyroid 0.8806 0.9829 0.8419 0.8956 0.9445 0.8834 0.8883 0.8730 0.8025 0.9136 0.9818 0.8457 0.8907 0.9468 0.8766 0.8856 0.8745 hom 3507.33 119 10 126172863 . A G 3507.33 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;QD=29.47;VQSLOD=8.8649;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3507,289,0 10 126714714 126714714 G C exonic CTBP2 nonsynonymous SNV CTBP2:NM_022802:exon1:c.C1615G:p.Q539E 0.47 0.37 0.34 0.66 0.48 0.48 0.4852 0.3767 0.3269 0.6365 0.5704 0.5034 0.4636 0.4786 0.46 0.38 0.5 0.41 0.36 rs2946994 COSM1346598 1(breast);1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . 0.086 0.326 T 0.925 0.494 P 0.513 0.462 P 0.547 0.115 N 0.012 0.810 P . . . -1.72 0.833 D -0.37 0.132 N 0.243 0.297 -0.902 0.478 T 0.000 0.000 T . . . 3.348 0.461 22.9 0.991 0.528 0.974 0.740 D c 0.642 0.696 1.000 0.747 0.581 0.326 0 5.29 0.743 9.858 0.984 0.998 0.613 1.000 0.715 0.995 0.604 19.323 0.942 . . . 0.4748 0.3751 0.3324 0.4763 0.6453 0.5613 0.4952 0.4610 0.4517 0.4814 0.3849 0.3565 0.4735 0.6468 0.5697 0.5056 0.4939 hom 4143.19 136 10 126714714 . G C 4143.19 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0220;MQ=59.21;MQ0=0;QD=30.46;VQSLOD=6.8616;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,135:136:99:4142,349,0 10 126714966 126714966 A G exonic CTBP2 nonsynonymous SNV CTBP2:NM_022802:exon1:c.T1363C:p.Y455H 0.45 0.3 0.33 0.66 0.48 0.48 0.4791 0.3202 0.3257 0.6376 0.5844 0.5044 0.4546 0.4586 0.44 0.33 0.5 0.38 0.37 rs3012075 COSM3751593 1(thyroid);2(large_intestine) . . . . . . . . . . . 0.031 0.450 D 0.001 0.067 B 0.003 0.080 B 0.077 0.023 N 1 0.588 P . . . -1.7 0.831 D -0.51 0.160 N 0.13 0.149 -0.944 0.420 T 0.000 0.000 T . . . 2.131 0.317 17.06 0.996 0.768 0.480 0.279 N c -0.384 -0.356 1.000 0.747 0.497 0.185 0 4.04 0.461 3.947 0.561 1.028 0.649 0.509 0.268 0.001 0.043 12.024 0.525 . ENSG00000175029.12 Cells_Transformed_fibroblasts 0.4720 0.3154 0.3310 0.4763 0.6452 0.5686 0.4971 0.4596 0.4503 0.4654 0.3254 0.3493 0.4735 0.6464 0.5770 0.5060 0.4948 hom 1392.93 42 10 126714966 . A G 1392.93 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.17;VQSLOD=13.7967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1426,114,0 10 126715692 126715692 C T exonic CTBP2 nonsynonymous SNV CTBP2:NM_022802:exon1:c.G637A:p.D213N 0.06 0.093 0.076 0.042 0.039 0.046 0.0545 0.0779 0.0575 0.0250 0.0596 0.0537 0.0626 0.0542 0.061 0.076 0.053 0.043 0.049 rs3781408 . . . . . . . . . . . . . 0.299 0.145 T 0.078 0.229 B 0.014 0.158 B 0.197 0.167 N 1 0.186 N . . . -2.15 0.865 D -1.08 0.281 N 0.057 0.040 -1.036 0.186 T 0.028 0.121 T . . . 0.644 0.155 8.455 0.981 0.379 0.197 0.205 N c -0.828 -0.891 1.000 0.500 0.497 0.185 0 1.31 0.207 1.380 0.337 0.935 0.490 0.233 0.245 0.287 0.235 7.203 0.249 D-isomer specific 2-hydroxyacid dehydrogenase\x2c NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase\x2c catalytic domain|NAD(P)-binding domain . . 0.0528 0.0767 0.0575 0.0475 0.0248 0.0563 0.0521 0.0564 0.0528 0.0570 0.0763 0.0501 0.0563 0.0271 0.0550 0.0496 0.0602 het 1003.73 70 10 126715692 . C T 1003.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.465;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5479;MQ=58.68;MQ0=0;MQRankSum=0.810;QD=14.34;ReadPosRankSum=-0.693;VQSLOD=4.9657;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:35,35:70:99:1034,0,879 10 127462525 127462525 A G exonic MMP21 nonsynonymous SNV MMP21:NM_147191:exon2:c.T572C:p.V191A 0.74 0.7 0.63 0.76 0.81 0.78 0.7766 0.7267 0.6115 0.7087 0.8500 0.8148 0.7958 0.7810 0.79 0.74 0.82 0.37 0.44 rs10901425 COSM3751596 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.926 0.023 T 0.0 0.026 B 0.002 0.063 B 0.404 0.131 N 1 0.090 P -0.275 0.037 N 2.16 0.192 T -0.62 0.183 N 0.007 0.000 -0.979 0.351 T 0.000 0.000 T . . . -1.613 0.014 0.002 0.346 0.021 0.026 0.071 N c -1.883 -1.950 1.000 0.446 0.403 0.052 0 -9.23 0.006 0.493 0.220 -1.545 0.010 0.009 0.180 0.001 0.043 0.759 0.009 Metallopeptidase\x2c catalytic domain|Peptidase M10\x2c metallopeptidase|Peptidase\x2c metallopeptidase ENSG00000188690.8|ENSG00000188690.8 Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts 0.7605 0.7065 0.6019 0.7792 0.6906 0.8472 0.8135 0.7700 0.7784 0.7894 0.7280 0.6535 0.75 0.6975 0.8562 0.8269 0.8058 het 244.22 30 10 127462525 . A G 244.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.233;DP=30;Dels=0.00;FS=3.638;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=1.799;QD=8.14;ReadPosRankSum=-0.910;VQSLOD=5.2215;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,12:30:99:274,0,479 10 127737930 127737930 G A exonic ADAM12 synonymous SNV ADAM12:NM_001288973:exon16:c.C1809T:p.P603P,ADAM12:NM_001288974:exon16:c.C1809T:p.P603P,ADAM12:NM_001288975:exon16:c.C1809T:p.P603P,ADAM12:NM_003474:exon16:c.C1818T:p.P606P,ADAM12:NM_021641:exon16:c.C1818T:p.P606P 0.12 0.13 0.15 0.028 0.16 0.16 0.1341 0.1266 0.1515 0.0287 0.0806 0.1406 0.1454 0.1762 0.13 0.13 0.14 0.076 0.14 rs2292692 COSM3978222;COSM3978223;COSM3978224 1(lung) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1341 0.1327 0.1507 0.1848 0.0290 0.0813 0.1392 0.1486 0.1766 0.1221 0.1329 0.1587 0.1589 0.0290 0.0827 0.1307 0.1449 het 2367.02 163 10 127737930 . G A 2367.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.368;DP=163;DS;Dels=0.00;FS=3.128;HRun=0;HaplotypeScore=0.8667;MQ=59.72;MQ0=0;MQRankSum=0.911;QD=14.52;ReadPosRankSum=0.479;VQSLOD=6.6035;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,81:163:99:2397,0,2362 10 127737958 127737958 T C exonic ADAM12 nonsynonymous SNV ADAM12:NM_001288973:exon16:c.A1781G:p.N594S,ADAM12:NM_001288974:exon16:c.A1781G:p.N594S,ADAM12:NM_001288975:exon16:c.A1781G:p.N594S,ADAM12:NM_003474:exon16:c.A1790G:p.N597S,ADAM12:NM_021641:exon16:c.A1790G:p.N597S 0.0024 . . . 0.003 0.0092 0.0021 0.0002 0.0006 0 0.0003 0.0022 0.0011 0.0056 0.0018 0.0002 0.0027 . 0.0082 rs77297117 . . . . . . . . . . . . . 0.053 0.388 T 0.999 0.899 D 0.998 0.916 D 0.000 0.843 D 1.000 0.588 D 1.29 0.325 L 2.01 0.213 T -4.31 0.765 D 0.149 0.176 -1.081 0.072 T 0.086 0.334 T 0.011 0.282 T 4.278 0.573 24.0 0.999 0.950 0.980 0.788 D c 0.703 0.697 1.000 0.747 0.487 0.133 0 5.2 0.716 8.017 0.886 1.061 0.807 1.000 0.715 1.000 0.888 15.233 0.730 ADAM\x2c cysteine-rich . . 0.0023 0.0003 0.0006 0.0015 0 0.0005 0.0030 0.0007 0.0055 0.0018 0.0006 0.0012 0.0033 0 0.0006 0.0031 0.0010 het 2560.54 162 10 127737958 . T C 2560.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.775;DP=162;DS;Dels=0.00;FS=5.134;HRun=0;HaplotypeScore=5.4402;MQ=59.46;MQ0=0;MQRankSum=-0.380;QD=15.81;ReadPosRankSum=-0.850;VQSLOD=3.8173;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,87:162:99:2591,0,2053 10 127753478 127753478 G A exonic ADAM12 synonymous SNV ADAM12:NM_001288973:exon14:c.C1506T:p.N502N,ADAM12:NM_001288974:exon14:c.C1506T:p.N502N,ADAM12:NM_001288975:exon14:c.C1506T:p.N502N,ADAM12:NM_003474:exon14:c.C1515T:p.N505N,ADAM12:NM_021641:exon14:c.C1515T:p.N505N 0.3 0.38 0.43 0.16 0.24 0.32 0.2822 0.3698 0.5114 0.2041 0.1368 0.2319 0.2695 0.3574 0.25 0.34 0.21 0.21 0.23 rs1278279 COSM3751599;COSM3751597;COSM3751598 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2698 0.3490 0.4799 0.3343 0.1946 0.1198 0.2121 0.2698 0.3387 0.2362 0.3492 0.4486 0.2980 0.1921 0.1163 0.1913 0.2184 het 589.49 44 10 127753478 . G A 589.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.749;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.138;QD=13.40;ReadPosRankSum=-0.106;VQSLOD=12.0021;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:619,0,509 10 128019025 128019025 C G exonic ADAM12 nonsynonymous SNV ADAM12:NM_001288973:exon2:c.G142C:p.G48R,ADAM12:NM_001288974:exon2:c.G142C:p.G48R,ADAM12:NM_001288975:exon2:c.G142C:p.G48R,ADAM12:NM_003474:exon2:c.G142C:p.G48R,ADAM12:NM_021641:exon2:c.G142C:p.G48R 0.52 0.58 0.6 0.48 0.54 0.43 0.5504 0.5851 0.5922 0.4954 0.6028 0.5731 0.5595 0.4147 0.57 0.59 0.56 0.52 0.48 rs3740199 COSM1128108;COSM1128110;COSM1128109 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.76 0.056 T 0.0 0.026 B 0.0 0.013 B 0.530 0.052 N 1 0.090 P -0.55 0.024 N 4.87 0.201 T 1.42 0.009 N 0.054 0.397 -0.932 0.438 T 0.000 0.000 T . . . -0.667 0.046 0.086 0.212 0.008 0.003 0.016 N c -1.623 -1.654 0.537 0.212 0.487 0.133 0 -3.88 0.039 -1.867 0.017 -4.212 0.000 0.000 0.063 0.000 0.016 6.315 0.203 . . . 0.5562 0.5872 0.5941 0.6833 0.4926 0.6265 0.5632 0.5817 0.4139 0.5794 0.5829 0.5730 0.6954 0.4975 0.6211 0.5759 0.5585 het 2546.93 250 10 128019025 . C G 2546.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.229;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1047;MQ=59.08;MQ0=0;MQRankSum=0.148;QD=10.19;ReadPosRankSum=0.723;VQSLOD=4.7336;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,109:250:99:2577,0,3858 10 128202435 128202435 T C exonic C10orf90 synonymous SNV C10orf90:NM_001004298:exon2:c.A96G:p.A32A,C10orf90:NM_001350921:exon3:c.A387G:p.A129A,C10orf90:NM_001350922:exon3:c.A387G:p.A129A,C10orf90:NM_001350923:exon3:c.A387G:p.A129A 0.88 0.91 0.86 0.86 0.86 0.87 0.8609 0.9101 0.8464 0.8528 0.8922 0.8533 0.8502 0.8631 0.87 0.91 0.85 0.86 0.85 rs1436803 COSM3997823;COSM3997824 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8626 0.9130 0.8532 0.8756 0.8526 0.8928 0.8524 0.8610 0.8645 0.8718 0.9153 0.8409 0.8808 0.8438 0.8940 0.8476 0.8459 hom 3620.72 128 10 128202435 . T C 3620.72 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9966;MQ=58.53;MQ0=0;QD=28.29;VQSLOD=8.1324;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:3620,280,0 10 128830409 128830409 A G exonic DOCK1 synonymous SNV DOCK1:NM_001290223:exon18:c.A1737G:p.A579A,DOCK1:NM_001380:exon18:c.A1674G:p.A558A 0.13 0.046 0.2 0.087 0.21 0.13 0.2695 0.1147 0.3566 0.2182 0.2570 0.3168 0.2575 0.1704 0.17 0.069 0.21 0.13 . rs2229597 COSM3997825 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1855 0.0747 0.1943 0.1819 0.1129 0.1888 0.2213 0.1980 0.1389 0.1678 0.0808 0.1683 0.1921 0.1289 0.1976 0.2132 0.1959 het 395.19 33 10 128830409 . A G 395.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.190;DP=33;Dels=0.00;FS=3.261;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.869;QD=11.98;ReadPosRankSum=0.264;VQSLOD=6.3019;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:425,0,386 10 128926013 128926013 A G exonic DOCK1 synonymous SNV DOCK1:NM_001290223:exon27:c.A2832G:p.R944R,DOCK1:NM_001380:exon27:c.A2769G:p.R923R 0.74 0.44 0.79 0.84 0.86 0.9 0.8192 0.4927 0.7539 0.8286 0.8987 0.8496 0.8241 0.8986 0.75 0.52 0.86 0.7 . rs1060561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8256 0.4866 0.7702 0.8644 0.8382 0.8918 0.8498 0.8241 0.8993 0.7521 0.4926 0.7661 0.8344 0.8356 0.8863 0.8550 0.8276 het 2286.50 189 10 128926013 . A G 2286.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.884;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.4780;MQ=58.54;MQ0=0;MQRankSum=1.681;QD=12.10;ReadPosRankSum=-0.403;VQSLOD=4.3279;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,90:189:99:2316,0,2685 10 128974220 128974220 G A exonic FAM196A nonsynonymous SNV FAM196A:NM_001039762:exon4:c.C440T:p.A147V 0.17 0.045 0.21 0.035 0.28 0.31 0.2387 0.0796 0.2316 0.0306 0.3614 0.2647 0.25 0.2981 0.21 0.077 0.27 0.13 0.23 rs11594560 COSM4419672 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.007 0.131 B 0.001 0.093 B 0.867 0.071 N 0.999 0.214 P 0.875 0.216 L 0.97 0.425 T 1.36 0.009 N 0.032 0.017 -0.979 0.352 T 0.000 0.000 T . . . -0.541 0.053 0.174 0.634 0.070 0.022 0.063 N c -0.912 -0.933 0.440 0.204 0.554 0.283 0 2.58 0.299 1.039 0.297 1.048 0.713 0.000 0.063 0.002 0.062 6.43 0.209 . ENSG00000188916.4|ENSG00000188916.4|ENSG00000188916.4 Esophagus_Muscularis|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.2457 0.0776 0.2350 0.2882 0.0304 0.3668 0.2619 0.2557 0.2994 0.2135 0.0818 0.2314 0.2417 0.0272 0.3528 0.2738 0.2510 het 1161.96 94 10 128974220 . G A 1161.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.592;DP=94;Dels=0.00;FS=0.792;HRun=0;HaplotypeScore=2.8448;MQ=59.36;MQ0=0;MQRankSum=0.753;QD=12.36;ReadPosRankSum=0.654;VQSLOD=6.6756;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,48:94:99:1192,0,1196 10 128974621 128974621 C T exonic FAM196A synonymous SNV FAM196A:NM_001039762:exon4:c.G39A:p.T13T 0.53 0.24 0.56 0.74 0.59 0.61 0.5683 0.2857 0.5246 0.7404 0.5360 0.5837 0.5711 0.6297 0.48 0.29 0.58 0.52 0.37 rs2489386 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5685 0.2822 0.5329 0.5472 0.7486 0.5261 0.5871 0.5617 0.6197 0.5008 0.2858 0.5227 0.5762 0.7466 0.5321 0.5848 0.5675 het 2753.79 197 10 128974621 . C T 2753.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.510;DP=197;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2013;MQ=59.46;MQ0=0;MQRankSum=1.294;QD=13.98;ReadPosRankSum=1.778;VQSLOD=5.9854;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,100:197:99:2784,0,2438 10 129245684 129245684 G A exonic DOCK1 nonsynonymous SNV DOCK1:NM_001290223:exon51:c.G5440A:p.A1814T,DOCK1:NM_001380:exon51:c.G5377A:p.A1793T 0.2 0.21 0.22 0.12 0.26 0.21 0.2566 0.2300 0.2185 0.1349 0.2596 0.2793 0.2704 0.2639 0.24 0.19 0.26 0.24 . rs869801 COSM147088;COSM4986508 1(stomach);2(haematopoietic_and_lymphoid_tissue);7(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.698 0.042 T 0.0 0.026 B 0.0 0.013 B 0.407 0.046 U 1 0.090 P 1.01 0.254 L 3.85 0.037 T -0.27 0.114 N 0.078 0.069 -0.903 0.477 T 0.000 0.000 T . . . 0.120 0.105 3.818 0.867 0.162 0.024 0.068 N c -1.492 -1.567 1.000 0.747 0.706 0.609 0 -10.4 0.003 -0.848 0.044 -0.010 0.132 0.000 0.063 0.043 0.159 0.403 0.004 . . . 0.2364 0.2125 0.1948 0.3322 0.1216 0.2344 0.2596 0.2507 0.2423 0.2435 0.2096 0.2184 0.3411 0.1191 0.2378 0.2781 0.2347 het 424.07 34 10 129245684 . G A 424.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.330;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=59.32;MQ0=0;MQRankSum=2.254;QD=12.47;ReadPosRankSum=-0.347;VQSLOD=6.1575;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,19:34:99:454,0,407 10 129249662 129249662 G A exonic DOCK1 nonsynonymous SNV DOCK1:NM_001290223:exon52:c.G5632A:p.A1878T,DOCK1:NM_001380:exon52:c.G5569A:p.A1857T 0.86 0.65 0.94 0.91 0.98 0.94 0.9407 0.6838 0.9720 0.9249 0.9889 0.9694 0.9463 0.9378 0.88 0.7 0.97 0.83 . rs2229603 COSM4144470 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.409 N 1.000 0.189 P -1.115 0.009 N 3.89 0.036 T -0.02 0.073 N 0.112 0.121 -1.028 0.209 T 0.000 0.000 T . . . 1.723 0.268 14.54 0.595 0.061 0.063 0.122 N c -0.743 -0.527 0.125 0.170 0.706 0.609 0 2.71 0.310 1.527 0.354 0.244 0.267 1.000 0.715 0.942 0.416 3.288 0.065 . . . 0.9466 0.6621 0.9738 0.9405 0.9242 0.9908 0.9726 0.9488 0.9387 0.8886 0.6727 0.9498 0.9272 0.9226 0.9891 0.9781 0.9602 hom 771.16 27 10 129249662 . G A 771.16 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.58;MQ0=0;QD=28.56;VQSLOD=7.2635;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:66.19:804,66,0 10 129350856 129350856 G C exonic NPS nonsynonymous SNV NPS:NM_001030013:exon3:c.G223C:p.V75L 0.042 0.0053 0.046 . 0.12 0.048 0.0957 0.0216 0.0609 0.0003 0.0872 0.1374 0.0924 0.0488 0.1 0.022 0.14 0.022 0.13 rs4751440 COSM3751606 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.996 0.832 D 0.014 0.288 U 0.003 0.433 P . . . 0.27 0.592 T -3.0 0.623 D 0.388 0.448 -0.966 0.381 T 0.006 0.021 T . . . 4.494 0.602 24.3 0.998 0.893 0.888 0.487 D c 0.667 0.661 1.000 0.458 0.487 0.133 0 5.47 0.803 4.786 0.619 0.998 0.613 1.000 0.715 1.000 0.888 19.326 0.942 . . . 0.0935 0.0202 0.0602 0.1088 0.0002 0.0867 0.1398 0.1094 0.0478 0.0867 0.0228 0.0837 0.0927 0.0012 0.0927 0.1307 0.1029 het 1678.98 154 10 129350856 . G C 1678.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.903;DP=154;DS;Dels=0.00;FS=0.684;HRun=0;HaplotypeScore=6.8008;MQ=58.82;MQ0=0;MQRankSum=0.898;QD=10.90;ReadPosRankSum=-0.483;VQSLOD=4.9700;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,60:154:99:1709,0,2737 10 129845924 129845924 G A exonic PTPRE synonymous SNV PTPRE:NM_130435:exon1:c.G12A:p.R4R 0.0034 0.0008 0.01 . 0.007 0.002 0.0063 0.0015 0.0086 0.0001 0.0097 0.0078 0.0099 0.0031 0.0062 0.0016 0.0085 0.011 . rs41282856 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0064 0.0014 0.0066 0.0095 0.0001 0.0085 0.0079 0.0104 0.0031 0.0059 0.0022 0.0084 0 0 0.0095 0.0079 0.0051 het 1538.17 130 10 129845924 . G A 1538.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.100;DP=130;Dels=0.00;FS=3.151;HRun=1;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=0.498;QD=11.83;ReadPosRankSum=-0.357;VQSLOD=5.9117;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,60:130:99:1568,0,1864 10 129903802 129903802 A G exonic MKI67 nonsynonymous SNV MKI67:NM_001145966:exon12:c.T5222C:p.I1741T,MKI67:NM_002417:exon13:c.T6302C:p.I2101T 0.15 0.017 0.15 0.23 0.23 0.18 0.1954 0.0451 0.1791 0.1984 0.2077 0.2190 0.2048 0.1992 0.16 0.055 0.22 0.16 0.3 rs11016073 COSM3751614 1(large_intestine) . . . . . . . . . . . 0.032 0.457 D 0.01 0.154 B 0.008 0.158 B 0.000 0.002 N 1 0.090 P 1.01 0.254 L 3.92 0.035 T 0.58 0.053 N 0.056 0.039 -0.952 0.407 T 0.000 0.000 T . . . 0.059 0.099 3.180 0.956 0.268 0.082 0.140 N c -1.772 -1.914 1.000 0.747 0.707 0.730 0 -8.87 0.007 -1.036 0.036 -0.170 0.106 0.000 0.063 0.000 0.016 7.160 0.247 . . . 0.1961 0.0435 0.1847 0.1717 0.1932 0.2035 0.2212 0.2089 0.1954 0.1721 0.0484 0.2014 0.1689 0.1789 0.1995 0.2329 0.2122 het 3183.33 245 10 129903802 . A G 3183.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.008;DP=245;DS;Dels=0.00;FS=2.182;HRun=0;HaplotypeScore=9.9030;MQ=58.58;MQ0=0;MQRankSum=1.052;QD=12.99;ReadPosRankSum=-1.818;VQSLOD=3.8410;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,112:245:99:3213,0,3569 10 129904560 129904560 C T exonic MKI67 synonymous SNV MKI67:NM_001145966:exon12:c.G4464A:p.T1488T,MKI67:NM_002417:exon13:c.G5544A:p.T1848T 0.29 0.24 0.22 0.38 0.3 0.3 0.2909 0.2419 0.2168 0.3455 0.3292 0.2939 0.2974 0.3169 0.28 0.25 0.29 0.32 0.34 rs2853346 COSM3751616 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2880 0.2388 0.2216 0.2575 0.3425 0.3286 0.2927 0.2970 0.3158 0.2878 0.2395 0.2482 0.2384 0.3319 0.3158 0.3070 0.2994 hom 7459.26 234 10 129904560 . C T 7459.26 Mask AC=2;AF=1.00;AN=2;DP=234;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5443;MQ=59.07;MQ0=0;QD=31.88;VQSLOD=8.3648;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7458,584,0 10 129917560 129917560 T C exonic MKI67 nonsynonymous SNV MKI67:NM_001145966:exon5:c.A311G:p.N104S,MKI67:NM_002417:exon5:c.A311G:p.N104S 0.63 0.58 0.72 0.64 0.67 0.61 0.6476 0.5598 0.7211 0.6039 0.6865 0.6509 0.6818 0.6437 0.62 0.56 0.64 0.65 0.56 rs2071498 COSM3751617 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.062 0.369 T 0.982 0.581 D 0.702 0.524 P 0.256 0.154 N 1 0.090 P 0.895 0.225 L 5.13 0.211 T -1.54 0.373 N 0.01 0.001 -1.094 0.049 T 0.000 0.000 T . . . 1.281 0.219 12.17 0.995 0.666 0.127 0.173 N c -0.450 -0.522 1.000 0.747 0.707 0.730 0 3.64 0.407 1.395 0.339 1.061 0.807 0.003 0.159 0.541 0.278 8.955 0.348 . . . 0.6527 0.5597 0.7214 0.6828 0.6035 0.6819 0.6450 0.6780 0.6445 0.6186 0.5601 0.7124 0.6967 0.5785 0.6743 0.6359 0.6367 hom 1959.40 67 10 129917560 . T C 1959.40 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.24;VQSLOD=13.0450;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1992,147,0 10 131959150 131959150 C T exonic GLRX3 nonsynonymous SNV GLRX3:NM_001199868:exon4:c.C367T:p.P123S,GLRX3:NM_006541:exon4:c.C367T:p.P123S 0.19 0.12 0.13 0.11 0.29 0.31 0.2285 0.1432 0.1235 0.1066 0.2310 0.2571 0.2654 0.3011 0.22 0.14 0.26 0.23 0.25 rs2274217 COSM1346807;COSM1346808 1(large_intestine) . . . . . . . . . . . 0.303 0.143 T 0.0 0.026 B 0.0 0.013 B 0.026 0.260 N 1 0.090 P 0.585 0.154 N 3.08 0.085 T -0.12 0.088 N 0.067 0.054 -0.927 0.445 T 0.000 0.000 T . . . 0.429 0.135 6.858 0.736 0.101 0.281 0.232 N c -0.842 -0.755 1.000 0.747 0.713 0.817 0 4.39 0.520 1.796 0.382 0.852 0.362 0.042 0.209 0.031 0.148 10.995 0.466 . . . 0.2275 0.1476 0.1307 0.2973 0.1084 0.2293 0.2587 0.2432 0.2996 0.2074 0.1429 0.1647 0.26 0.1307 0.2314 0.2482 0.2189 het 1281.90 112 10 131959150 . C T 1281.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.628;DP=112;Dels=0.00;FS=5.983;HRun=0;HaplotypeScore=1.8273;MQ=59.07;MQ0=0;MQRankSum=0.041;QD=11.45;ReadPosRankSum=0.634;VQSLOD=5.5322;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1312,0,1562 10 133786586 133786586 T C exonic BNIP3 synonymous SNV BNIP3:NM_004052:exon3:c.A429G:p.R143R 0.072 0.073 0.11 0.02 0.12 0.048 0.1024 0.0813 0.1017 0.0177 0.0810 0.1302 0.1211 0.0557 0.12 0.086 0.14 0.043 0.11 rs1050704 COSM3751627 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1045 0.0799 0.1020 0.1211 0.0189 0.0851 0.1376 0.1138 0.0546 0.1011 0.0759 0.1100 0.1391 0.0166 0.0805 0.1288 0.0967 het 4116.24 248 10 133786586 . T C 4116.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.323;DP=248;DS;Dels=0.00;FS=1.568;HRun=1;HaplotypeScore=1.9465;MQ=59.18;MQ0=0;MQRankSum=-0.355;QD=16.60;ReadPosRankSum=-1.546;VQSLOD=5.1622;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,130:248:99:3526,0,3002 10 133948634 133948634 T C exonic JAKMIP3 synonymous SNV JAKMIP3:NM_001323089:exon4:c.T723C:p.N241N,JAKMIP3:NM_001105521:exon5:c.T939C:p.N313N,JAKMIP3:NM_001323086:exon5:c.T939C:p.N313N,JAKMIP3:NM_001323087:exon5:c.T939C:p.N313N,JAKMIP3:NM_001323088:exon5:c.T933C:p.N311N,JAKMIP3:NM_001323090:exon5:c.T939C:p.N313N 0.86 0.98 0.85 0.99 0.7 0.74 0.7590 0.9513 0.8677 0.9828 0.6657 0.6965 0.7343 0.7417 0.77 0.95 0.69 0.88 . rs2814182 COSM5983397 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7579 0.9540 0.8488 0.7188 0.9844 0.6661 0.6956 0.7307 0.7443 0.7805 0.9479 0.8186 0.6887 0.9864 0.6694 0.6907 0.7122 het 695.60 62 10 133948634 . T C 695.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.725;DP=62;Dels=0.00;FS=2.369;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=0.310;QD=11.22;ReadPosRankSum=-0.677;VQSLOD=6.6450;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,29:62:99:726,0,917 10 133954011 133954011 C T exonic JAKMIP3 synonymous SNV JAKMIP3:NM_001323089:exon9:c.C1185T:p.D395D,JAKMIP3:NM_001105521:exon10:c.C1401T:p.D467D,JAKMIP3:NM_001323086:exon10:c.C1401T:p.D467D,JAKMIP3:NM_001323087:exon10:c.C1401T:p.D467D,JAKMIP3:NM_001323088:exon10:c.C1395T:p.D465D,JAKMIP3:NM_001323090:exon10:c.C1401T:p.D467D 0.51 0.46 0.58 0.59 0.48 0.5 0.5044 0.4654 0.5852 0.5543 0.4836 0.4891 0.5170 0.5139 0.48 0.45 0.49 0.48 . rs2818387 COSM3747150 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5039 0.4573 0.5705 0.5191 0.5487 0.4846 0.4847 0.5030 0.5091 0.4699 0.4424 0.5337 0.4866 0.5530 0.4707 0.4731 0.4672 het 819.24 63 10 133954011 . C T 819.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.163;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9315;MQ=59.11;MQ0=0;MQRankSum=-0.213;QD=13.00;ReadPosRankSum=0.241;VQSLOD=6.6663;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,33:63:99:849,0,698 10 133961494 133961494 C T exonic JAKMIP3 synonymous SNV JAKMIP3:NM_001323089:exon13:c.C1566T:p.H522H,JAKMIP3:NM_001105521:exon14:c.C1788T:p.H596H,JAKMIP3:NM_001323086:exon14:c.C1788T:p.H596H,JAKMIP3:NM_001323087:exon14:c.C1788T:p.H596H,JAKMIP3:NM_001323088:exon14:c.C1782T:p.H594H,JAKMIP3:NM_001323090:exon14:c.C1788T:p.H596H 0.43 0.28 0.72 0.31 0.59 0.36 0.5587 0.3514 0.8317 0.3482 0.4763 0.6037 0.5588 0.4469 0.52 0.35 0.61 0.46 . rs2818384 COSM3751629 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5539 0.3257 0.8088 0.5443 0.3249 0.4547 0.6017 0.5732 0.4174 0.5022 0.3400 0.7566 0.5232 0.3397 0.4539 0.6097 0.5194 het 489.18 48 10 133961494 . C T 489.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.75;MQ0=0;MQRankSum=-0.199;QD=10.19;ReadPosRankSum=-0.721;VQSLOD=6.2543;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,20:48:99:519,0,662 10 133963499 133963499 C T exonic JAKMIP3 nonsynonymous SNV JAKMIP3:NM_001323089:exon15:c.C1739T:p.A580V,JAKMIP3:NM_001105521:exon16:c.C1961T:p.A654V,JAKMIP3:NM_001323086:exon16:c.C1961T:p.A654V,JAKMIP3:NM_001323087:exon16:c.C1961T:p.A654V,JAKMIP3:NM_001323088:exon16:c.C1955T:p.A652V,JAKMIP3:NM_001323090:exon16:c.C1961T:p.A654V 0.042 0.003 0.085 . 0.1 0.044 0.0661 0.0139 0.0476 0 0.0537 0.0905 0.0758 0.0508 0.064 0.013 0.09 0.033 . rs117391524 COSM1599949 1(large_intestine);1(central_nervous_system) . . . . . . . . . . . 0.64 0.050 T 0.394 0.329 B 0.061 0.254 B . . . 1 0.090 N 0.69 0.170 N 1.95 0.225 T -1.06 0.277 N 0.095 0.095 -1.060 0.117 T 0.001 0.003 T . . . 2.310 0.339 18.23 0.983 0.399 0.377 0.256 N c -0.609 -0.611 0.721 0.229 0.646 0.450 0 2.88 0.325 2.188 0.420 0.802 0.324 0.005 0.169 0.535 0.277 12.555 0.554 . ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000165752.12|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8|ENSG00000151640.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Vagina|Whole_Blood 0.0619 0.0125 0.0473 0.1078 0.0001 0.0483 0.0850 0.0761 0.0448 0.0512 0.0132 0.0428 0.1037 0 0.0483 0.0784 0.0611 het 192.44 29 10 133963499 . C T 192.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.236;DP=29;Dels=0.00;FS=3.645;HRun=0;HaplotypeScore=0.0000;MQ=57.89;MQ0=0;MQRankSum=2.495;QD=6.64;ReadPosRankSum=0.562;VQSLOD=3.0932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,11:29:99:222,0,487 10 134013990 134013990 G A exonic DPYSL4 synonymous SNV DPYSL4:NM_006426:exon9:c.G942A:p.A314A 0.85 0.8 0.89 0.93 0.81 0.87 0.8508 0.7949 0.9200 0.9396 0.7997 0.8365 0.8366 0.8691 0.82 0.8 0.83 0.79 0.72 rs2247705 COSM4144494 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8516 0.7941 0.9165 0.8051 0.9387 0.8040 0.8357 0.8382 0.8691 0.8306 0.7952 0.8983 0.8245 0.9396 0.7939 0.8434 0.8449 het 1404.85 107 10 134013990 . G A 1404.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.215;DP=107;Dels=0.00;FS=0.765;HRun=0;HaplotypeScore=2.3294;MQ=58.39;MQ0=0;MQRankSum=1.580;QD=13.13;ReadPosRankSum=-2.134;VQSLOD=5.0966;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,54:107:99:1435,0,1347 10 134017295 134017295 A G exonic DPYSL4 synonymous SNV DPYSL4:NM_006426:exon13:c.A1491G:p.G497G 0.84 0.75 0.87 0.96 0.81 0.85 0.8348 0.7574 0.9142 0.9640 0.8051 0.8181 0.8266 0.8387 0.79 0.75 0.81 0.81 0.57 rs12313 COSM3751630 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8373 0.7587 0.9080 0.8042 0.9643 0.8064 0.8166 0.8199 0.8376 0.8124 0.7551 0.8768 0.8245 0.9635 0.7976 0.8283 0.8244 het 1213.87 77 10 134017295 . A G 1213.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.623;DP=77;Dels=0.00;FS=8.318;HRun=2;HaplotypeScore=2.3977;MQ=59.70;MQ0=0;MQRankSum=0.984;QD=15.76;ReadPosRankSum=0.882;VQSLOD=4.2004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,40:77:99:1244,0,948 10 134017388 134017388 C G exonic DPYSL4 synonymous SNV DPYSL4:NM_006426:exon13:c.C1584G:p.V528V 0.15 0.076 0.12 0.37 0.13 0.081 0.1295 0.0997 0.0590 0.3970 0.1421 0.1218 0.1406 0.0824 0.11 0.099 0.12 0.14 0.15 rs1052556 COSM3751631 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1275 0.1015 0.0667 0.1394 0.3978 0.1393 0.1169 0.1271 0.0816 0.1272 0.0983 0.0668 0.1424 0.4088 0.1407 0.1133 0.1291 het 2475.35 193 10 134017388 . C G 2475.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.576;DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.81;MQ0=0;MQRankSum=-0.883;QD=12.83;ReadPosRankSum=0.780;VQSLOD=5.6927;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:98,95:193:99:2505,0,2588 10 134036193 134036193 A G exonic STK32C synonymous SNV STK32C:NM_001318878:exon10:c.T1242C:p.R414R,STK32C:NM_001318879:exon10:c.T852C:p.R284R,STK32C:NM_173575:exon10:c.T1203C:p.R401R 0.77 0.65 0.86 0.84 0.79 0.75 0.7926 0.6724 0.9023 0.8564 0.7915 0.7909 0.7760 0.7657 0.75 0.68 0.79 0.77 0.65 rs2818401 COSM3747152;COSM3747151 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7992 0.6793 0.8955 0.7130 0.8612 0.7979 0.7942 0.7886 0.7662 0.7752 0.6823 0.8541 0.7252 0.8630 0.7889 0.8117 0.7961 het 457.81 44 10 134036193 . A G 457.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.530;DP=44;Dels=0.00;FS=4.575;HRun=1;HaplotypeScore=0.0000;MQ=56.90;MQ0=0;MQRankSum=0.426;QD=10.40;ReadPosRankSum=-0.355;VQSLOD=4.0634;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,19:44:99:488,0,644 10 134161633 134161633 A G exonic LRRC27 synonymous SNV LRRC27:NM_001309474:exon5:c.A318G:p.P106P,LRRC27:NM_001143757:exon6:c.A699G:p.P233P,LRRC27:NM_001143758:exon6:c.A699G:p.P233P,LRRC27:NM_001143759:exon6:c.A699G:p.P233P,LRRC27:NM_030626:exon6:c.A699G:p.P233P 0.85 0.98 0.8 0.87 0.75 0.77 0.7856 0.9473 0.8219 0.8575 0.7790 0.7542 0.7494 0.7518 0.82 0.94 0.75 0.85 0.66 rs2474328 COSM5010210;COSM5010209;COSM5010208;COSM5010211;COSM5010212 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7849 0.9484 0.8197 0.8574 0.8614 0.7706 0.7465 0.7747 0.7513 0.8151 0.9451 0.8210 0.8377 0.8568 0.7791 0.7451 0.7736 het 643.46 71 10 134161633 . A G 643.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.030;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3235;MQ=58.75;MQ0=0;MQRankSum=-0.115;QD=9.06;ReadPosRankSum=-0.662;VQSLOD=5.8316;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,27:71:99:673,0,1194 10 134218269 134218269 C T exonic PWWP2B nonsynonymous SNV PWWP2B:NM_001098637:exon2:c.C265T:p.R89C,PWWP2B:NM_138499:exon2:c.C265T:p.R89C 0.52 0.41 0.47 0.62 0.59 0.51 0.5751 0.4432 0.5416 0.6345 0.5203 0.6083 0.5619 0.5314 0.58 0.48 0.63 0.51 0.098 rs11146363 COSM3751641;COSM3751640 2(thyroid);3(large_intestine) . . . . . . . . . . . 0.144 0.252 T 0.0 0.026 B 0.0 0.013 B 0.000 0.005 N 1 0.090 P -1.04 0.011 N 0.49 0.558 T -1.44 0.354 N 0.019 0.004 -0.977 0.357 T 0.000 0.000 T . . . 1.299 0.220 12.26 0.941 0.237 0.025 0.069 N c -1.430 -1.537 1.000 0.747 0.646 0.450 0 -7.28 0.013 -1.266 0.029 0.843 0.344 0.000 0.063 0.005 0.090 0.959 0.013 . . . 0.5749 0.4356 0.5409 0.6412 0.6318 0.5284 0.6144 0.5790 0.5193 0.5409 0.4280 0.5268 0.6419 0.6302 0.5297 0.5965 0.5629 hom 2053.05 66 10 134218269 . C T 2053.05 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=31.11;VQSLOD=9.1522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2086,189,0 10 134218296 134218296 C G exonic PWWP2B nonsynonymous SNV PWWP2B:NM_001098637:exon2:c.C292G:p.R98G,PWWP2B:NM_138499:exon2:c.C292G:p.R98G 0.59 0.71 0.55 0.7 0.46 0.51 0.5510 0.7136 0.6400 0.7383 0.4924 0.4864 0.5481 0.5500 0.58 0.73 0.5 0.26 0.033 rs10747057 COSM3751643;COSM3751642 3(thyroid);1(large_intestine) . . . . . . . . . . . 0.379 0.112 T 0.0 0.026 B 0.0 0.013 B 0.165 0.031 N 1 0.090 P -1.355 0.007 N 0.56 0.546 T 0.12 0.056 N 0.019 0.007 -0.936 0.433 T 0.000 0.000 T . . . 0.230 0.116 4.994 0.471 0.038 0.001 0.005 N c -1.311 -1.290 0.993 0.329 0.646 0.450 0 2.77 0.315 -0.360 0.076 0.066 0.173 0.000 0.063 0.000 0.016 1.739 0.027 . . . 0.5356 0.6939 0.6046 0.4655 0.7267 0.4486 0.4706 0.5177 0.5246 0.5231 0.6889 0.5653 0.4388 0.7193 0.4032 0.4401 0.4356 hom 805.30 31 10 134218296 . C G 805.30 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7792;MQ=55.53;MQ0=0;QD=25.98;VQSLOD=2.9419;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,30:31:75.17:838,75,0 10 134598628 134598628 A G exonic NKX6-2 nonsynonymous SNV NKX6-2:NM_177400:exon3:c.T626C:p.V209A 0.98 1. 0.97 1. 0.95 0.96 0.9581 0.9922 0.9786 0.9999 0.9669 0.9425 0.9589 0.9601 0.96 0.99 0.94 0.72 0.82 rs2804003 COSM4144514 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.216 P -1.75 0.003 N 0.52 0.553 T 3.22 0.001 N 0.041 0.140 -0.936 0.433 T 0.000 0.000 T . . . 0.919 0.182 10.19 0.858 0.156 0.079 0.137 N c -0.907 -0.686 1.000 0.462 0.598 0.340 0 2.89 0.326 4.155 0.577 0.038 0.153 1.000 0.715 0.996 0.625 10.839 0.457 Homeobox domain . . 0.9592 0.9914 0.9783 0.9507 0.9998 0.9663 0.9413 0.9581 0.9618 0.9612 0.9900 0.9690 0.9404 0.9981 0.9674 0.9389 0.9613 hom 1576.07 53 10 134598628 . A G 1576.07 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7862;MQ=59.56;MQ0=0;QD=29.74;VQSLOD=8.0303;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1609,129,0 10 134622408 134622408 T C exonic CFAP46 synonymous SNV CFAP46:NM_001200049:exon58:c.A7665G:p.R2555R 0.74 0.96 0.53 0.73 0.68 0.67 0.6775 0.9293 0.3935 0.7270 0.7174 0.6745 0.6835 0.6880 0.75 0.93 0.66 0.6 0.57 rs2767434 COSM4144517;COSM4144516;COSM4144515 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6518 0.9342 0.3975 0.7438 0.7188 0.7000 0.6604 0.6567 0.6633 0.7494 0.9313 0.4677 0.7318 0.7243 0.7006 0.6774 0.6906 het 251.55 21 10 134622408 . T C 251.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DP=21;Dels=0.00;FS=1.740;HRun=1;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=0.462;QD=11.98;ReadPosRankSum=-0.320;VQSLOD=6.5169;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,12:21:99:282,0,219 10 134623959 134623959 T C exonic CFAP46 nonsynonymous SNV CFAP46:NM_001200049:exon57:c.A7618G:p.S2540G 0.76 0.97 0.54 0.74 0.7 0.7 0.6949 0.9389 0.3900 0.7374 0.7358 0.6974 0.7095 0.7056 0.77 0.94 0.69 0.8 0.57 rs2254419 COSM3930962;COSM3930960;COSM3930961 1(urinary_tract) . . . . . . . . . . . 0.058 0.377 T 0.0 0.026 B 0.0 0.013 B 0.016 0.014 N 1 0.090 P -0.235 0.039 N 2.84 0.107 T -0.44 0.146 N 0.052 0.107 -0.971 0.369 T 0.000 0.000 T . . . -2.539 0.003 0.001 0.220 0.009 0.002 0.014 N c -1.935 -2.056 0.886 0.257 0.581 0.326 0 -5.95 0.020 -5.430 0.001 -2.251 0.004 0.000 0.063 0.000 0.016 8.676 0.332 . . . 0.6793 0.9435 0.4095 0.7549 0.7324 0.7353 0.6915 0.6782 0.7049 0.7717 0.9405 0.4821 0.7417 0.7383 0.7358 0.7063 0.7102 het 1926.79 148 10 134623959 . T C 1926.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.235;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9569;MQ=59.18;MQ0=0;MQRankSum=0.200;QD=13.02;ReadPosRankSum=-0.491;VQSLOD=4.9680;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,77:148:99:1957,0,1832 10 134646988 134646988 C T exonic CFAP46 nonsynonymous SNV CFAP46:NM_001200049:exon50:c.G6991A:p.A2331T 0.32 0.14 0.51 0.28 0.4 0.39 0.3979 0.1720 0.6430 0.2854 0.4613 0.4014 0.4075 0.3870 0.33 0.17 0.4 0.25 0.47 rs4880433 COSM5425487;COSM5425488 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.069 0.355 T 0.086 0.234 B 0.008 0.127 B 0.923 0.075 N 1 0.090 P 1.28 0.323 L 1.47 0.320 T -1.19 0.303 N 0.114 0.476 -0.916 0.461 T 0.000 0.000 T . . . 1.355 0.227 12.56 0.838 0.144 0.042 0.095 N c -1.025 -1.062 0.000 0.029 0.554 0.283 0 1.39 0.212 0.279 0.184 0.008 0.138 0.000 0.063 0.002 0.062 7.725 0.277 . . . 0.4137 0.1684 0.6197 0.3147 0.2897 0.4753 0.4066 0.4066 0.3942 0.3447 0.1766 0.5692 0.3576 0.2723 0.4704 0.4037 0.4162 het 2590.87 228 10 134646988 . C T 2590.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.316;DP=228;DS;Dels=0.00;FS=0.494;HRun=0;HaplotypeScore=14.7935;MQ=59.27;MQ0=0;MQRankSum=1.267;QD=11.36;ReadPosRankSum=0.268;VQSLOD=2.4794;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,104:228:99:2621,0,3023 10 134748331 134748331 C T exonic CFAP46 nonsynonymous SNV CFAP46:NM_001200049:exon8:c.G791A:p.S264N 0.37 0.32 0.5 0.34 0.35 0.41 0.4018 0.3535 0.6180 0.3740 0.4236 0.3727 0.4172 0.4031 0.37 0.36 0.38 0.36 0.36 rs12781609 . . . . . . . . . . . . . 0.528 0.071 T 0.0 0.026 B 0.001 0.040 B 0.014 0.014 N 1 0.090 P -1.04 0.011 N 0.6 0.537 T 0.31 0.040 N 0.041 0.021 -1.010 0.268 T 0.000 0.000 T . . . -1.530 0.016 0.002 0.391 0.027 0.001 0.009 N c -1.705 -1.744 0.001 0.078 0.554 0.283 0 -5.5 0.024 -3.016 0.007 -0.381 0.065 0.000 0.063 0.000 0.016 2.083 0.034 . ENSG00000171811.8|ENSG00000232903.2|ENSG00000232903.2|ENSG00000232903.2|ENSG00000240707.2 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial 0.4113 0.3536 0.5978 0.2686 0.3756 0.4324 0.3789 0.3925 0.4084 0.3801 0.3536 0.5455 0.3212 0.3714 0.4241 0.3772 0.3951 het 1120.34 120 10 134748331 . C T 1120.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.667;DP=120;Dels=0.00;FS=1.545;HRun=1;HaplotypeScore=5.9162;MQ=59.06;MQ0=0;MQRankSum=1.247;QD=9.34;ReadPosRankSum=-1.623;VQSLOD=4.4544;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,46:120:99:1150,0,1970 10 134997480 134997480 C T exonic KNDC1 synonymous SNV KNDC1:NM_152643:exon5:c.C612T:p.F204F 0.42 0.12 0.39 0.58 0.44 0.66 0.4673 0.1634 0.4254 0.5835 0.4414 0.4657 0.5135 0.6514 0.37 0.17 0.47 0.34 0.42 rs57510763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4720 0.1532 0.4273 0.4816 0.5740 0.4588 0.4693 0.4538 0.6433 0.3911 0.1596 0.4535 0.5397 0.5655 0.4576 0.4794 0.4745 het 1330.87 117 10 134997480 . C T 1330.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.229;DP=117;Dels=0.00;FS=5.639;HRun=2;HaplotypeScore=0.9894;MQ=58.09;MQ0=0;MQRankSum=-0.923;QD=11.37;ReadPosRankSum=-0.785;VQSLOD=3.9233;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,50:117:99:1361,0,1672 10 134999602 134999602 G C exonic KNDC1 synonymous SNV KNDC1:NM_152643:exon6:c.G750C:p.T250T 0.78 0.75 0.79 0.69 0.86 0.83 0.8327 0.7742 0.7418 0.7041 0.8506 0.8696 0.8647 0.8418 0.86 0.8 0.89 0.11 0.38 rs3008393 COSM3751649;COSM1745700 1(urinary_tract);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8290 0.7612 0.7536 0.8776 0.6934 0.8565 0.8725 0.8438 0.8405 0.8403 0.7852 0.7852 0.9067 0.6934 0.8584 0.8833 0.8760 hom 451.74 15 10 134999602 . G C 451.74 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.12;VQSLOD=13.4576;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:36.12:485,36,0 10 135000148 135000148 T C exonic KNDC1 synonymous SNV KNDC1:NM_152643:exon6:c.T1296C:p.A432A 0.42 0.12 0.38 0.58 0.44 0.66 0.4688 0.1669 0.4239 0.5860 0.4399 0.4621 0.5155 0.6487 0.36 0.16 0.46 0.36 0.35 rs3810965 COSM3749102;COSM3749101 1(haematopoietic_and_lymphoid_tissue);11(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4705 0.1531 0.4307 0.4784 0.5766 0.4495 0.4641 0.4526 0.6425 0.3875 0.16 0.4520 0.5397 0.5633 0.4524 0.4737 0.4704 het 619.11 52 10 135000148 . T C 619.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.234;DP=52;Dels=0.00;FS=2.304;HRun=1;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;MQRankSum=-1.300;QD=11.91;ReadPosRankSum=-1.190;VQSLOD=5.6005;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:649,0,624 10 135000159 135000159 A G exonic KNDC1 nonsynonymous SNV KNDC1:NM_152643:exon6:c.A1307G:p.E436G 0.42 0.12 0.38 0.58 0.44 0.66 0.4694 0.1674 0.4242 0.5877 0.4415 0.4625 0.5133 0.6515 0.36 0.16 0.46 0.35 0.3 rs3810964 COSM3751652;COSM3751653 1(haematopoietic_and_lymphoid_tissue);1(pancreas);2(large_intestine) . . . . . . . . . . . 1.0 0.020 T 0.0 0.026 B 0.0 0.013 B 0.918 0.085 N 1 0.090 P -0.345 0.033 N 1.59 0.288 T 0.1 0.058 N 0.02 0.004 -0.936 0.432 T 0.000 0.000 T . . . -1.600 0.015 0.002 0.758 0.108 0.002 0.011 N c -2.073 -2.082 0.703 0.227 0.696 0.567 0 -5.95 0.020 -0.727 0.050 -2.328 0.003 0.000 0.063 0.000 0.016 2.448 0.042 . . . 0.4703 0.1530 0.4312 0.4793 0.5776 0.4484 0.4638 0.4515 0.6435 0.3876 0.1599 0.4531 0.5397 0.5639 0.4527 0.4736 0.4704 het 502.19 47 10 135000159 . A G 502.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.607;DP=47;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=-0.053;QD=10.68;ReadPosRankSum=-0.436;VQSLOD=6.4851;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,23:47:99:532,0,611 10 135012162 135012162 T C exonic KNDC1 nonsynonymous SNV KNDC1:NM_152643:exon14:c.T2150C:p.L717P 0.56 0.52 0.49 0.61 0.53 0.63 0.6023 0.5705 0.5681 0.6541 0.5828 0.5898 0.6075 0.6576 0.56 0.55 0.56 0.58 0.12 rs2998139 COSM427278;COSM4144537 1(thyroid);1(biliary_tract) . . . . . . . . . . . 0.227 0.239 T 0.0 0.026 B 0.0 0.013 B 0.686 0.061 N 1 0.090 P -1.525 0.005 N 2.83 0.157 T 1.81 0.006 N 0.015 0.003 -0.964 0.385 T 0.000 0.000 T . . . 0.302 0.123 5.713 0.548 0.051 0.000 0.001 N c -1.369 -1.314 0.008 0.117 0.696 0.567 0 2.82 0.319 0.087 0.147 -0.371 0.067 0.000 0.063 0.000 0.016 6.014 0.187 . . . 0.5632 0.5297 0.5136 0.5647 0.6184 0.5364 0.5585 0.5433 0.6367 0.5566 0.5384 0.5492 0.6457 0.6123 0.5407 0.5637 0.5527 het 193.77 14 10 135012162 . T C 193.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.400;DP=14;Dels=0.00;FS=2.363;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.267;QD=13.84;ReadPosRankSum=-0.133;VQSLOD=6.2800;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,9:14:99:224,0,123 10 135032376 135032376 A G exonic KNDC1 synonymous SNV KNDC1:NM_152643:exon27:c.A4719G:p.K1573K 0.1 0.013 0.17 0.12 0.11 0.17 0.1157 0.0266 0.2027 0.0981 0.0833 0.1080 0.1200 0.1622 0.087 0.028 0.12 0.13 0.049 rs3008370 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1210 0.0237 0.2003 0.1117 0.0979 0.0848 0.1113 0.1262 0.1593 0.0818 0.0243 0.1814 0.1391 0.1052 0.0830 0.1045 0.1 het 2943.18 206 10 135032376 . A G 2943.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.078;DP=206;DS;Dels=0.00;FS=9.299;HRun=0;HaplotypeScore=10.2821;MQ=59.46;MQ0=0;MQRankSum=-0.960;QD=14.29;ReadPosRankSum=0.547;VQSLOD=2.9339;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,103:206:99:2973,0,2769 10 135053604 135053604 G A exonic VENTX nonsynonymous SNV VENTX:NM_014468:exon3:c.G571A:p.G191R 0.1 0.12 0.13 0.082 0.059 0.12 0.0834 0.125 0.1759 0.0664 0.0437 0.0643 0.0581 0.0954 0.083 0.12 0.066 0.14 0.049 rs9418952 COSM3751659 1(large_intestine) . . . . . . . . . . . 0.009 0.574 D 0.004 0.112 B 0.001 0.040 B 0.857 0.071 N 1 0.090 P 0.46 0.130 N -2.81 0.911 D -1.5 0.366 N 0.082 0.204 -0.999 0.302 T 0.009 0.034 T . . . 1.323 0.223 12.39 0.666 0.079 0.009 0.034 N c -1.438 -1.525 0.438 0.204 0.696 0.567 0 -2.11 0.068 -3.444 0.005 -2.466 0.003 0.000 0.063 0.000 0.016 2.702 0.048 . ENSG00000151650.7 Esophagus_Muscularis 0.0848 0.1163 0.1724 0.0648 0.0644 0.0437 0.0645 0.0804 0.0943 0.0753 0.1124 0.1360 0.0596 0.0711 0.0424 0.0597 0.0622 het 914.24 59 10 135053604 . G A 914.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.766;DP=59;Dels=0.00;FS=13.232;HRun=0;HaplotypeScore=1.4679;MQ=60.00;MQ0=0;MQRankSum=0.114;QD=15.50;ReadPosRankSum=0.342;VQSLOD=3.9181;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,32:59:99:944,0,680 10 135053710 135053710 C A exonic VENTX nonsynonymous SNV VENTX:NM_014468:exon3:c.C677A:p.A226E 0.1 0.12 0.14 0.082 0.059 0.13 0.0844 0.1253 0.1780 0.0651 0.0458 0.0651 0.0630 0.0958 0.078 0.11 0.062 0.087 0.049 rs74164127 COSM3751660 1(large_intestine) . . . . . . . . . . . 0.108 0.294 T 0.784 0.424 P 0.265 0.379 B 0.152 0.030 U 1 0.090 P 0.345 0.112 N -2.7 0.905 D -1.13 0.291 N 0.022 0.005 -0.832 0.532 T 0.010 0.037 T . . . 0.531 0.145 7.664 0.649 0.074 0.029 0.076 N c -1.141 -1.313 0.458 0.206 0.696 0.567 0 -2.19 0.066 -2.439 0.011 -0.420 0.060 0.000 0.063 0.000 0.016 6.479 0.211 . ENSG00000151650.7 Esophagus_Muscularis 0.0848 0.1172 0.1720 0.0655 0.0641 0.0432 0.0640 0.0816 0.0940 0.0750 0.1125 0.1348 0.0596 0.0711 0.0422 0.0588 0.0644 het 432.82 30 10 135053710 . C A 432.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.041;DP=30;Dels=0.00;FS=1.617;HRun=0;HaplotypeScore=0.8667;MQ=59.23;MQ0=0;MQRankSum=-1.306;QD=14.43;ReadPosRankSum=0.288;VQSLOD=5.4304;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,17:30:99:463,0,245 10 135053721 135053721 C A exonic VENTX nonsynonymous SNV VENTX:NM_014468:exon3:c.C688A:p.P230T 0.1 0.12 0.14 0.082 0.059 0.13 0.0842 0.1231 0.1778 0.0642 0.0457 0.0653 0.0609 0.0959 0.075 0.11 0.059 0.065 0.049 rs9419033 COSM3751661 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.981 0.577 D 0.431 0.436 B 0.001 0.422 U 1 0.090 P 0.895 0.225 L -2.89 0.916 D -2.05 0.470 N 0.051 0.032 -0.747 0.581 T 0.012 0.047 T . . . 0.350 0.128 6.167 0.990 0.500 0.069 0.127 N c -0.633 -0.842 0.297 0.191 0.696 0.567 0 0.163 0.142 0.752 0.258 -0.396 0.063 0.002 0.151 0.000 0.016 4.534 0.113 . ENSG00000151650.7 Esophagus_Muscularis 0.0845 0.1158 0.1720 0.0654 0.0638 0.0426 0.0639 0.0805 0.0939 0.0741 0.1096 0.1360 0.0596 0.0711 0.0420 0.0587 0.0644 het 418.79 31 10 135053721 . C A 418.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.916;DP=31;Dels=0.00;FS=1.484;HRun=0;HaplotypeScore=1.8653;MQ=59.25;MQ0=0;MQRankSum=-0.275;QD=13.51;ReadPosRankSum=0.275;VQSLOD=6.0367;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,18:31:99:449,0,382 10 135053773 135053773 G A exonic VENTX nonsynonymous SNV VENTX:NM_014468:exon3:c.G740A:p.G247D 0.1 0.12 0.13 0.083 0.059 0.13 0.0846 0.1251 0.1772 0.0659 0.0481 0.0645 0.0622 0.0998 0.071 0.099 0.057 0.011 0.049 rs9418953 COSM3930967 1(urinary_tract) . . . . . . . . . . . 0.224 0.187 T 0.195 0.278 B 0.063 0.256 B 0.618 0.108 U 1 0.090 P 0.345 0.112 N -2.72 0.906 D -1.73 0.410 N 0.034 0.014 -0.954 0.403 T 0.008 0.027 T . . . 0.004 0.094 2.625 0.489 0.041 0.006 0.026 N c -1.101 -1.158 0.369 0.198 0.696 0.567 0 1.35 0.210 -0.694 0.052 0.145 0.233 0.000 0.063 0.003 0.074 4.240 0.100 . ENSG00000151650.7 Esophagus_Muscularis 0.0838 0.1171 0.1712 0.0645 0.0643 0.0432 0.0635 0.0795 0.0922 0.0751 0.1123 0.1360 0.0596 0.0711 0.0417 0.0592 0.0643 het 476.19 38 10 135053773 . G A 476.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DP=38;Dels=0.00;FS=1.323;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=0.190;QD=12.53;ReadPosRankSum=-0.248;VQSLOD=6.1847;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:506,0,486 10 135082346 135082346 A G exonic ADAM8 nonsynonymous SNV ADAM8:NM_001164490:exon17:c.T1774C:p.F592L,ADAM8:NM_001109:exon19:c.T1969C:p.F657L 0.82 0.69 0.8 0.93 0.88 0.85 0.8605 0.6772 0.7957 0.9544 0.9093 0.8793 0.8900 0.8731 0.8 0.67 0.87 0.71 0.76 rs2275720 COSM4144543 1(thyroid) . . . . . . . . . . . 0.653 0.048 T . . . . . . . . . 1 0.090 P 0.69 0.170 N 5.13 0.013 T -0.27 0.114 N 0.072 0.101 . . . . . . . . . -2.200 0.006 0.001 0.217 0.008 0.012 0.043 N n 0.054 2.577 0.912 0.263 0.672 0.522 0 -7.12 0.014 -0.831 0.045 -1.590 0.009 0.000 0.063 0.000 0.016 0.469 0.005 ADAM\x2c cysteine-rich ENSG00000151651.11 Pancreas 0.8605 0.6670 0.7941 0.8990 0.9577 0.9059 0.8755 0.8689 0.8777 0.8263 0.6698 0.8282 0.9040 0.9636 0.9152 0.8760 0.8867 het 755.87 57 10 135082346 . A G 755.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.983;DP=57;Dels=0.00;FS=1.008;HRun=1;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=-0.024;QD=13.26;ReadPosRankSum=-0.360;VQSLOD=5.9751;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,27:57:99:786,0,846 10 135085321 135085321 C T exonic ADAM8 synonymous SNV ADAM8:NM_001164490:exon10:c.G978A:p.A326A,ADAM8:NM_001109:exon11:c.G1095A:p.A365A,ADAM8:NM_001164489:exon11:c.G1095A:p.A365A 0.85 0.75 0.82 0.92 0.89 0.87 0.8761 0.7580 0.7982 0.9370 0.8968 0.8940 0.9009 0.8893 0.85 0.77 0.89 0.76 0.79 rs1131720 COSM4144544 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8748 0.7554 0.7971 0.9071 0.9398 0.8941 0.8934 0.8783 0.8913 0.8572 0.7606 0.8329 0.9172 0.9468 0.9036 0.8912 0.8837 hom 2929.48 86 10 135085321 . C T 2929.48 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=58.92;MQ0=0;QD=34.06;VQSLOD=9.0447;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2962,229,0 10 135085426 135085426 A G exonic ADAM8 synonymous SNV ADAM8:NM_001164490:exon10:c.T873C:p.C291C,ADAM8:NM_001109:exon11:c.T990C:p.C330C,ADAM8:NM_001164489:exon11:c.T990C:p.C330C 0.92 0.99 0.85 0.93 0.9 0.88 0.9017 0.9760 0.8135 0.9541 0.9112 0.9000 0.9169 0.8921 0.92 0.97 0.89 0.91 0.8 rs1131719 COSM427283 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8968 0.9761 0.8146 0.9301 0.9575 0.9085 0.8968 0.8937 0.8950 0.9248 0.9729 0.8529 0.9503 0.9623 0.9166 0.8989 0.9110 hom 4796.59 153 10 135085426 . A G 4796.59 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.573;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9024;MQ=58.81;MQ0=0;MQRankSum=0.068;QD=31.35;ReadPosRankSum=-0.182;VQSLOD=9.1441;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,151:153:99:4745,338,0 10 135087521 135087521 G A exonic ADAM8 nonsynonymous SNV ADAM8:NM_001164490:exon3:c.C136T:p.L46F 0.72 0.42 0.76 0.92 0.83 0.8 0.8150 0.5157 0.7745 0.9383 0.8719 0.8388 0.8464 0.8288 0.71 0.5 0.82 0.64 0.66 rs3008326 COSM3751662 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.12 0.279 T . . . . . . . . . 1.000 0.454 P . . . 5.0 0.014 T -0.22 0.105 N . . . . . . . . . . . 0.056 0.099 3.140 0.993 0.566 0.104 0.157 N n 1.140 3.491 1.000 0.473 0.701 0.575 0 0.161 0.142 0.155 0.161 0.984 0.599 0.003 0.159 0.773 0.328 3.684 0.078 Peptidase M12B\x2c propeptide ENSG00000127884.4|ENSG00000235245.1|ENSG00000235245.1 Lung|Nerve_Tibial|Thyroid 0.8062 0.4861 0.7474 0.7868 0.9402 0.8590 0.8322 0.8078 0.8230 0.7422 0.4970 0.7578 0.7417 0.9455 0.8681 0.8266 0.8238 hom 392.67 15 10 135087521 . G A 392.67 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.18;VQSLOD=13.4240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:15:33.10:426,33,0 10 135097434 135097434 A G exonic TUBGCP2 synonymous SNV TUBGCP2:NM_001256618:exon13:c.T1707C:p.F569F,TUBGCP2:NM_006659:exon14:c.T2097C:p.F699F,TUBGCP2:NM_001256617:exon15:c.T2181C:p.F727F 0.9 0.92 0.84 0.93 0.9 0.9 0.8962 0.9027 0.8140 0.9548 0.9111 0.8985 0.9108 0.9031 0.9 0.9 0.89 0.87 0.88 rs2995326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8924 0.8989 0.8147 0.9075 0.9582 0.9086 0.8968 0.8898 0.9048 0.9012 0.8935 0.8493 0.9205 0.9624 0.9164 0.8978 0.9051 hom 3960.51 126 10 135097434 . A G 3960.51 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7374;MQ=58.41;MQ0=0;QD=31.43;VQSLOD=8.9051;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3960,322,0 10 135098672 135098672 G A exonic TUBGCP2 synonymous SNV TUBGCP2:NM_001256618:exon12:c.C1551T:p.Y517Y,TUBGCP2:NM_006659:exon13:c.C1941T:p.Y647Y,TUBGCP2:NM_001256617:exon14:c.C2025T:p.Y675Y 0.89 0.88 0.84 0.93 0.9 0.88 0.8917 0.8717 0.8125 0.9547 0.9113 0.8982 0.9095 0.8918 0.89 0.87 0.89 0.84 0.83 rs3008334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8885 0.8669 0.8123 0.9074 0.9580 0.9096 0.8963 0.8875 0.8944 0.8920 0.8621 0.8461 0.9172 0.9623 0.9169 0.8974 0.9031 hom 2814.36 92 10 135098672 . G A 2814.36 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=30.59;VQSLOD=9.3957;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2847,223,0 10 135165790 135165790 A G exonic PRAP1 nonsynonymous SNV PRAP1:NM_001145201:exon5:c.A275G:p.H92R,PRAP1:NM_145202:exon5:c.A302G:p.H101R 0.99 0.97 1. 1. 1. 1. 0.9973 0.9704 0.9990 1 0.9998 0.9999 0.9989 0.9999 0.99 0.97 1. 0.96 1. rs4369319 . . . . . . . . . . . . . 0.681 0.044 T 0.0 0.026 B 0.0 0.013 B 0.047 0.020 N 1 0.090 P 0.41 0.124 N 1.63 0.282 T -0.84 0.425 N 0.022 0.005 -0.964 0.384 T 0.000 0.000 T . . . -3.412 0.000 0.001 0.412 0.029 0.000 0.002 N c -2.262 -2.353 0.999 0.372 0.696 0.573 0 -5.74 0.022 -4.657 0.002 -3.325 0.001 0.000 0.063 0.000 0.016 6.329 0.203 . . . 0.9978 0.9687 0.9987 1 1 1 0.9999 0.9993 0.9999 0.9904 0.9663 0.9976 1 1 1 1 0.9990 hom 5197.68 176 10 135165790 . A G 5197.68 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.6927;MQ=59.39;MQ0=0;QD=29.53;VQSLOD=2.8279;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5196,433,0 10 135180430 135180430 A G exonic ECHS1 synonymous SNV ECHS1:NM_004092:exon5:c.T582C:p.T194T 0.95 0.82 0.97 1. 1. 1. 0.9841 0.8271 0.9930 1 1 0.9994 0.9934 0.9999 0.94 0.83 1. 0.91 1. rs2230261 . . Benign not_specified RCV000429078.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9875 0.8265 0.9919 0.9981 0.9999 1 0.9994 0.9927 0.9998 0.9528 0.8351 0.9904 0.9967 1 1 0.9993 0.9959 hom 3816.63 137 10 135180430 . A G 3816.63 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3346;MQ=58.54;MQ0=0;QD=27.86;VQSLOD=6.9074;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:3816,307,0 10 135184126 135184126 G A exonic ECHS1 nonsynonymous SNV ECHS1:NM_004092:exon2:c.C224T:p.T75I 0.82 0.47 0.91 0.99 0.95 0.93 0.9131 0.5234 0.9548 0.9744 0.9713 0.9456 0.9330 0.9354 0.8 0.53 0.94 0.73 0.88 rs1049951 . . Benign not_specified RCV000418408.1 MedGen CN169374 . . . . . . 0.149 0.247 T 0.04 0.198 B 0.052 0.241 B 0.481 0.122 N 1 0.090 P 0.995 0.252 L -0.31 0.680 T -2.12 0.481 N 0.016 0.003 -0.974 0.365 T 0.000 0.000 T . . . 0.641 0.155 8.433 0.947 0.248 0.588 0.305 D c -0.645 -0.550 0.998 0.365 0.707 0.730 0 3.82 0.430 1.055 0.299 0.137 0.221 0.685 0.282 0.027 0.143 8.783 0.338 ClpP/crotonase-like domain ENSG00000148832.10|ENSG00000130640.9|ENSG00000148832.10|ENSG00000165828.9|ENSG00000127884.4 Adipose_Subcutaneous|Esophagus_Muscularis|Muscle_Skeletal|Testis|Thyroid 0.9199 0.5155 0.9455 0.8934 0.9741 0.9730 0.9463 0.9290 0.9333 0.8315 0.5309 0.9260 0.8377 0.9797 0.9711 0.9445 0.9420 hom 1149.41 38 10 135184126 . G A 1149.41 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.25;VQSLOD=14.4190;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1182,99,0 10 135204950 135204950 C G exonic PAOX nonsynonymous SNV PAOX:NM_207128:exon6:c.C1369G:p.Q457E 0.84 0.68 0.89 0.98 0.87 0.86 0.8826 0.7341 0.9241 0.9694 0.9349 0.8824 0.8910 0.8750 0.83 0.74 0.88 0.8 0.84 rs1046175 COSM427291;COSM427292 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.090 P . . . 0.92 0.445 T -0.24 0.108 N . . -0.950 0.410 T 0.000 0.000 T . . . -0.262 0.071 0.808 0.618 0.066 0.041 0.095 N c -1.447 -1.453 1.000 0.517 0.646 0.450 0 2.32 0.278 -0.456 0.068 -1.083 0.019 0.000 0.063 0.006 0.095 7.504 0.265 Amine oxidase|FAD/NAD(P)-binding domain . . 0.8853 0.7300 0.9149 0.8762 0.9685 0.9351 0.8794 0.8818 0.8701 0.8501 0.7339 0.8947 0.8278 0.9710 0.9373 0.8797 0.8898 het 799.59 52 10 135204950 . C G 799.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.754;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.11;MQ0=0;MQRankSum=-0.937;QD=15.38;ReadPosRankSum=-1.562;VQSLOD=5.9972;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,28:52:99:830,0,689 10 135205009 135205009 C G exonic PAOX synonymous SNV PAOX:NM_207128:exon6:c.C1428G:p.P476P 0.85 0.68 0.89 0.98 0.88 0.86 0.8856 0.7425 0.9261 0.9686 0.9346 0.8847 0.8892 0.8765 0.83 0.74 0.88 0.87 0.66 rs1046178 COSM4144548 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8846 0.7286 0.9126 0.8723 0.9692 0.9373 0.8797 0.8856 0.8696 0.8492 0.7297 0.8950 0.8278 0.9710 0.9373 0.8800 0.8908 het 193.78 12 10 135205009 . C G 193.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.831;QD=16.15;ReadPosRankSum=0.689;VQSLOD=11.9300;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,7:12:99:224,0,153 10 135233541 135233541 A G exonic MTG1 nonsynonymous SNV MTG1:NM_138384:exon11:c.A877G:p.I293V 1. 0.99 1. 1. 1. 1. 0.9992 0.9910 0.9999 1 1 1.0000 1 1 1. 0.99 1. 0.99 1. rs2255246 COSM4144549 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.221 0.161 N 1 0.090 P -1.91 0.002 N 1.64 0.402 T 0.25 0.045 N 0.03 0.019 -0.965 0.382 T 0.000 0.000 T . . . -1.625 0.014 0.002 0.594 0.061 0.002 0.014 N c -1.403 -1.232 0.199 0.181 0.672 0.522 0 4.25 0.495 0.367 0.200 -0.568 0.046 0.020 0.195 0.023 0.138 8.067 0.297 GTP-binding protein\x2c orthogonal bundle domain . . 0.9994 0.9910 0.9997 1 1 1 1.0000 0.9998 1 0.9974 0.9912 0.9964 1 1 1 1 1 hom 5914.56 201 10 135233541 . A G 5914.56 Mask AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1827;MQ=59.23;MQ0=1;QD=29.43;VQSLOD=6.3652;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,200:201:99:5913,484,0 10 135237166 135237166 G A exonic SPRN nonsynonymous SNV SPRN:NM_001012508:exon2:c.C20T:p.T7M 0.48 0.18 0.53 0.63 0.67 0.53 0.6539 0.3068 0.5845 0.6632 0.7499 0.6993 0.6315 0.6168 0.57 0.33 0.68 0.065 . rs2492666 COSM1316964 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 0.012 0.546 D 0.576 0.368 P 0.096 0.288 B . . . 1 0.090 P 1.905 0.510 L 0.57 0.544 T -3.66 0.700 D 0.064 0.106 -0.954 0.404 T 0.000 0.000 T . . . 4.338 0.581 24.0 0.997 0.787 0.034 0.084 N c -0.499 -0.625 0.977 0.297 0.598 0.340 0 1.2 0.201 1.675 0.369 0.928 0.438 0.388 0.258 0.680 0.305 7.140 0.246 . ENSG00000214279.8|ENSG00000214279.8|ENSG00000148832.10|ENSG00000148824.14|ENSG00000214279.8|ENSG00000214279.8|ENSG00000214279.8 Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Muscle_Skeletal|Pancreas|Testis|Thyroid 0.6140 0.2284 0.5310 0.5680 0.6330 0.7117 0.6747 0.6196 0.5869 0.5595 0.2522 0.5652 0.5102 0.6430 0.7178 0.6903 0.6383 hom 291.18 10 10 135237166 . G A 291.18 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.68;MQ0=0;QD=29.12;VQSLOD=6.0580;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:324,27,0 10 135347397 135347397 T C exonic CYP2E1 synonymous SNV CYP2E1:NM_000773:exon6:c.T963C:p.I321I 0.97 0.9 0.99 1. 1. 1. 0.9912 0.9028 0.9959 1 1 0.9999 0.9956 0.9999 0.97 0.9 1. 0.96 0.98 rs915909 . . Benign not_specified RCV000455117.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9932 0.9033 0.9958 1 1 1 0.9998 0.9958 0.9998 0.9717 0.9008 0.9940 1 1 1 0.9998 0.9980 hom 4397.89 142 10 135347397 . T C 4397.89 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0490;MQ=59.05;MQ0=0;QD=30.97;VQSLOD=8.3795;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4397,385,0 10 135351362 135351362 T C exonic CYP2E1 synonymous SNV CYP2E1:NM_000773:exon8:c.T1263C:p.F421F 0.7 0.34 0.82 0.79 0.87 0.83 0.8302 0.3931 0.8250 0.8274 0.9197 0.8869 0.8444 0.8446 0.72 0.4 0.88 0.65 0.89 rs2515641 . . Benign not_specified RCV000455849.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8388 0.3884 0.8261 0.8239 0.8303 0.9197 0.8887 0.8385 0.8453 0.7481 0.3976 0.8278 0.8278 0.8191 0.9241 0.8886 0.8586 hom 2651.98 85 10 135351362 . T C 2651.98 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=59.29;MQ0=0;QD=31.20;VQSLOD=9.0584;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:85:99:2685,208,0 11 193112 193112 C T exonic SCGB1C1;SCGB1C2 nonsynonymous SNV SCGB1C2:NM_001097610:exon1:c.C13T:p.R5C,SCGB1C1:NM_145651:exon1:c.C13T:p.R5C 0.27 0.19 0.27 0.24 0.36 0.3 0.3043 0.1973 0.2077 0.2207 0.3222 0.3494 0.3375 0.2894 0.27 0.18 0.32 0.2 0.25 rs7951297 COSM4994307 1(bone);1(haematopoietic_and_lymphoid_tissue);2(skin);1(prostate);4(large_intestine) . . . . . . . . . . . 0.155 0.241 T 0.0 0.026 B 0.0 0.013 B 0.867 0.071 N 1 0.090 N . . . 1.9 0.235 T -0.11 0.087 N 0.028 0.009 -0.945 0.419 T 0.000 0.000 T . . . 0.671 0.158 8.638 0.897 0.184 0.005 0.022 N c -1.488 -1.643 1.000 0.747 0.598 0.340 0 -7.44 0.012 -1.428 0.025 -1.024 0.021 0.000 0.063 0.097 0.188 1.826 0.029 . ENSG00000142082.10|ENSG00000142082.10|ENSG00000177963.8|ENSG00000232495.2|ENSG00000177951.13 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Whole_Blood|Whole_Blood 0.2669 0.1487 0.1808 0.3992 0.1705 0.2835 0.3159 0.3102 0.2484 0.2747 0.1742 0.2383 0.4036 0.2048 0.3015 0.3333 0.3070 het 347.77 88 11 193112 . C T 347.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.523;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7732;MQ=59.36;MQ0=0;MQRankSum=0.144;QD=3.95;ReadPosRankSum=-0.243;VQSLOD=3.4461;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,21:88:99:378,0,1626 11 209895 209897 CCC - exonic RIC8A nonframeshift deletion RIC8A:NM_001286134:exon3:c.621_623del:p.P210del,RIC8A:NM_021932:exon3:c.621_623del:p.P210del 0.41 0.25 0.43 0.76 0.33 0.35 0.3677 0.2598 0.4428 0.7610 0.2786 0.3278 0.3850 0.3728 0.32 0.27 0.34 . . rs3832797 COSM1317342 1(haematopoietic_and_lymphoid_tissue);2(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3743 0.2622 0.4442 0.3640 0.7595 0.2792 0.3279 0.3734 0.3702 0.3197 0.2520 0.4470 0.4233 0.7675 0.2747 0.3123 0.3211 het 1980.89 115 11 209894 . ACCC A 1980.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.108;DP=115;FS=0.724;HRun=6;HaplotypeScore=452.9914;MQ=58.85;MQ0=0;MQRankSum=-1.601;QD=17.23;ReadPosRankSum=1.618;set=variant2 GT:AD:DP:GQ:PL 0/1:65,50:115:99:2020,0,3809 11 237087 237087 A G exonic PSMD13 nonsynonymous SNV PSMD13:NM_002817:exon1:c.A38G:p.N13S,PSMD13:NM_175932:exon1:c.A38G:p.N13S 0.82 0.89 0.83 0.81 0.73 0.8 0.7783 0.8862 0.8476 0.8171 0.7599 0.7437 0.7489 0.7903 0.79 0.88 0.74 0.85 0.69 rs1045288 COSM3723237;COSM3723238 2(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.063 B 0.000 0.843 N 0.998 0.221 P -1.585 0.004 N 2.34 0.164 T 0.21 0.065 N 0.007 0.001 -0.981 0.347 T 0.000 0.000 T . . . -0.117 0.083 1.609 0.778 0.116 0.025 0.069 N c -0.847 -0.600 1.000 0.747 0.733 0.969 0 4.08 0.467 3.456 0.525 0.136 0.221 1.000 0.715 0.992 0.562 9.887 0.402 . ENSG00000142082.10|ENSG00000185627.13|ENSG00000177963.8|ENSG00000185627.13|ENSG00000185627.13|ENSG00000142082.10|ENSG00000185627.13|ENSG00000185627.13|ENSG00000142082.10|ENSG00000185627.13|ENSG00000177963.8|ENSG00000185627.13|ENSG00000185627.13|ENSG00000142082.10|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000142082.10|ENSG00000185627.13|ENSG00000185627.13|ENSG00000142082.10|ENSG00000185627.13|ENSG00000185627.13|ENSG00000142082.10|ENSG00000185627.13|ENSG00000142082.10|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000142082.10|ENSG00000185627.13|ENSG00000177951.13|ENSG00000142082.10|ENSG00000174885.8|ENSG00000185627.13|ENSG00000177963.8|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000142082.10|ENSG00000185627.13|ENSG00000177951.13|ENSG00000185627.13|ENSG00000185627.13|ENSG00000177951.13|ENSG00000185627.13|ENSG00000177963.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.7782 0.8857 0.8387 0.7012 0.8275 0.7638 0.7444 0.7433 0.7927 0.7969 0.8840 0.8150 0.6467 0.8389 0.7635 0.7531 0.7735 het 614.66 38 11 237087 . A G 614.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.404;DP=38;Dels=0.00;FS=5.041;HRun=0;HaplotypeScore=0.9916;MQ=59.39;MQ0=0;MQRankSum=-0.348;QD=16.18;ReadPosRankSum=0.348;VQSLOD=5.9130;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,24:38:99:645,0,262 11 280464 280464 C G exonic NLRP6 nonsynonymous SNV NLRP6:NM_001276700:exon4:c.C730G:p.P244A,NLRP6:NM_138329:exon4:c.C730G:p.P244A 0.1 0.028 0.22 0.003 0.22 0.11 0.1974 0.0695 0.2631 0.0008 0.3841 0.2329 0.2011 0.1192 0.15 0.063 0.2 0.022 0.11 rs77447196 COSM304003 1(thyroid);1(thymus);2(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.068 0.294 B 0.102 0.350 B 0.614 0.108 N 1 0.090 P 1.25 0.319 L -1.09 0.772 T 0.24 0.045 N 0.11 0.118 -1.089 0.057 T 0.000 0.000 T . . . -1.254 0.023 0.005 0.805 0.128 0.004 0.021 N c -0.920 -0.968 1.000 0.401 0.598 0.340 0 -0.036 0.132 -2.845 0.008 0.853 0.373 0.000 0.063 0.192 0.215 2.855 0.052 NACHT nucleoside triphosphatase|P-loop containing nucleoside triphosphate hydrolase ENSG00000174885.8|ENSG00000177963.8|ENSG00000177963.8|ENSG00000177963.8|ENSG00000174885.8|ENSG00000177963.8|ENSG00000177963.8|ENSG00000177951.13|ENSG00000177963.8|ENSG00000232495.2|ENSG00000177951.13|ENSG00000188076.2 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1770 0.0561 0.2333 0.0972 0.0012 0.3283 0.2142 0.1883 0.1058 0.1786 0.0657 0.1971 0.1 0.0012 0.3251 0.2268 0.2290 het 272.32 25 11 280464 . C G 272.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.897;DP=25;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=58.49;MQ0=0;MQRankSum=0.571;QD=10.89;ReadPosRankSum=1.224;VQSLOD=5.6164;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:302,0,370 11 280673 280673 C T exonic NLRP6 synonymous SNV NLRP6:NM_001276700:exon4:c.C939T:p.S313S,NLRP6:NM_138329:exon4:c.C939T:p.S313S 0.49 0.22 0.74 0.26 0.8 0.58 0.7741 0.4883 0.7706 0.3929 0.8028 0.8431 0.7748 0.6895 0.75 0.53 0.86 0.022 0.16 rs12807092 COSM4145640 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6999 0.3322 0.7123 0.7710 0.2204 0.7578 0.8254 0.7558 0.6238 0.6308 0.3226 0.7044 0.7616 0.2198 0.7565 0.8120 0.7261 hom 343.53 11 11 280673 . C T 343.53 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;QD=31.23;VQSLOD=7.5102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:377,33,0 11 280816 280816 A T exonic NLRP6 nonsynonymous SNV NLRP6:NM_001276700:exon4:c.A1082T:p.Y361F,NLRP6:NM_138329:exon4:c.A1082T:p.Y361F 0.7 0.82 0.82 0.29 0.88 0.7 0.7933 0.8172 0.7577 0.2521 0.8468 0.8838 0.7951 0.7004 0.67 0.61 0.7 . 0.89 rs7482965 COSM3931300 3(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 0.524 0.073 T 0.0 0.026 B 0.001 0.040 B 0.021 0.269 N 1 0.090 P -1.125 0.009 N -1.22 0.788 T -0.19 0.100 N 0.153 0.182 -0.950 0.409 T 0.000 0.000 T . . . -1.013 0.031 0.015 0.211 0.008 0.007 0.030 N c -1.231 -1.183 1.000 0.747 0.598 0.340 0 3.52 0.393 0.176 0.165 0.035 0.151 0.160 0.236 0.500 0.271 7.805 0.282 NACHT nucleoside triphosphatase|P-loop containing nucleoside triphosphate hydrolase . . 0.7904 0.8171 0.7599 0.8419 0.2449 0.8510 0.8873 0.8292 0.7000 0.8260 0.8225 0.7608 0.8456 0.2540 0.8563 0.8853 0.8340 hom 4556.97 139 11 280816 . A T 4556.97 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7791;MQ=59.57;MQ0=0;QD=32.78;VQSLOD=8.8645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4556,364,0 11 280817 280817 T C exonic NLRP6 synonymous SNV NLRP6:NM_001276700:exon4:c.T1083C:p.Y361Y,NLRP6:NM_138329:exon4:c.T1083C:p.Y361Y 0.7 0.82 0.82 0.29 0.88 0.7 0.7934 0.8171 0.7577 0.2524 0.8467 0.8838 0.7951 0.7003 0.68 0.62 0.7 . 0.89 rs7482279 COSM5425055 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7904 0.8171 0.7598 0.8419 0.2452 0.8510 0.8873 0.8292 0.6999 0.8259 0.8223 0.7608 0.8514 0.2543 0.8563 0.8853 0.8323 hom 4478.83 139 11 280817 . T C 4478.83 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.707;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7791;MQ=59.57;MQ0=0;MQRankSum=-0.137;QD=32.22;ReadPosRankSum=0.262;VQSLOD=9.5626;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,138:139:99:4478,361,0 11 284538 284538 T C exonic NLRP6 synonymous SNV NLRP6:NM_001276700:exon7:c.T2433C:p.P811P,NLRP6:NM_138329:exon7:c.T2436C:p.P812P 0.55 0.59 0.62 0.33 0.77 0.43 0.6595 0.6442 0.5871 0.3362 0.8342 0.7589 0.6927 0.4219 0.71 0.65 0.74 0.54 0.65 rs6598047 COSM5426371 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6559 0.6420 0.5932 0.7173 0.3307 0.8309 0.7527 0.7095 0.4197 0.7106 0.6476 0.5764 0.6788 0.3247 0.8322 0.7666 0.7423 hom 1464.81 50 11 284538 . T C 1464.81 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=29.30;VQSLOD=8.1086;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1498,120,0 11 290816 290816 A G exonic PGGHG synonymous SNV PGGHG:NM_025092:exon4:c.A609G:p.A203A 0.67 0.73 0.68 0.45 0.75 0.71 0.7155 0.7325 0.6529 0.4315 0.7045 0.7600 0.6957 0.7244 0.75 0.73 0.76 0.59 0.61 rs10902120 COSM3752317;COSM3752316 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7134 0.7298 0.6555 0.8144 0.4244 0.7117 0.7603 0.7478 0.7238 0.7189 0.7159 0.6611 0.8642 0.4091 0.7094 0.7583 0.6963 hom 2458.34 80 11 290816 . A G 2458.34 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.2434;MQ=59.71;MQ0=0;QD=30.73;VQSLOD=8.8333;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2491,202,0 11 293188 293188 T C exonic PGGHG synonymous SNV PGGHG:NM_025092:exon8:c.T1296C:p.H432H 0.4 0.36 0.37 0.4 0.37 0.51 0.3893 0.3305 0.4482 0.3855 0.4462 0.3549 0.3733 0.5044 0.34 0.33 0.35 0.25 0.33 rs12801980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3883 0.3283 0.4310 0.3198 0.3725 0.4476 0.3491 0.3682 0.5052 0.3582 0.3240 0.3888 0.3510 0.3658 0.4507 0.3524 0.3822 het 4415.66 250 11 293188 . T C 4415.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.129;DP=250;DS;Dels=0.00;FS=2.356;HRun=0;HaplotypeScore=10.3143;MQ=59.52;MQ0=0;MQRankSum=-1.497;QD=17.66;ReadPosRankSum=0.265;VQSLOD=2.5995;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3732,0,3472 11 314207 314207 C G exonic IFITM1 nonsynonymous SNV IFITM1:NM_003641:exon1:c.C37G:p.P13A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.99 0.98 rs9667990 COSM4590855 23(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.356 0.137 N 1 0.090 P -1.72 0.003 N -1.16 0.781 T 2.68 0.002 N 0.104 0.109 -0.966 0.380 T 0.000 0.000 T . . . -1.780 0.011 0.002 0.580 0.058 0.065 0.124 N c -1.718 -1.577 1.000 0.747 0.733 0.969 0 2.02 0.255 0.082 0.146 -0.730 0.036 0.000 0.063 0.001 0.043 3.796 0.082 . . . 1.0000 0.9999 1 1 1 1 1.0000 1 1.0000 1.0000 0.9999 1 1 1 1 1 1 hom 5923.37 178 11 314207 . C G 5923.37 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.2864;MQ=58.36;MQ0=0;QD=33.28;VQSLOD=7.5204;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5923,460,0 11 372700 372700 G C exonic B4GALNT4 synonymous SNV B4GALNT4:NM_178537:exon3:c.G294C:p.G98G 0.33 0.33 0.3 0.38 0.3 0.34 0.3046 0.3502 0.2643 0.4221 0.3146 0.2862 0.2873 0.3136 0.29 0.33 0.28 0.37 0.2 rs35475866 COSM1561414 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.297 0.3400 0.2658 0.2821 0.4176 0.2899 0.2837 0.2838 0.3027 0.3029 0.3363 0.3086 0.2733 0.4240 0.2868 0.2762 0.2810 hom 460.48 18 11 372700 . G C 460.48 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.58;VQSLOD=12.3440;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:39.11:493,39,0 11 379948 379948 C T exonic B4GALNT4 synonymous SNV B4GALNT4:NM_178537:exon16:c.C2571T:p.S857S 0.0012 . 0.0029 . 0.004 . 0.0025 0.0004 0.0016 0 0.0002 0.0038 0.0035 0.0016 0.0021 . 0.0031 . . rs142922840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0003 0.0019 0.0176 0 0.0002 0.0028 0.0052 0.0016 0.0016 0.0002 0.0060 0.0166 0 0 0.0024 0.0010 het 608.73 44 11 379948 . C T 608.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=-0.668;QD=13.83;ReadPosRankSum=-0.814;VQSLOD=4.8153;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,23:44:99:639,0,576 11 396915 396915 C T exonic PKP3 synonymous SNV PKP3:NM_007183:exon3:c.C414T:p.N138N,PKP3:NM_001303029:exon4:c.C459T:p.N153N 0.45 0.29 0.48 0.43 0.55 0.55 0.5476 0.3732 0.4962 0.4580 0.5249 0.5767 0.5836 0.6025 0.48 0.34 0.55 0.3 0.39 rs12419281 COSM3752360 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5262 0.3352 0.4818 0.6489 0.4304 0.4967 0.5542 0.5469 0.5931 0.4770 0.3391 0.4881 0.7033 0.4349 0.5155 0.5440 0.5328 het 402.29 21 11 396915 . C T 402.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.041;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=57.06;MQ0=0;MQRankSum=-1.196;QD=19.16;ReadPosRankSum=-1.031;VQSLOD=5.4949;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,14:21:99:432,0,130 11 400109 400109 A G exonic PKP3 synonymous SNV PKP3:NM_007183:exon6:c.A1416G:p.A472A,PKP3:NM_001303029:exon7:c.A1461G:p.A487A 0.9 0.98 0.74 1. 0.75 0.94 0.7928 0.9454 0.6941 0.9997 0.7103 0.7276 0.8370 0.9393 0.8 0.94 0.72 0.84 0.49 rs8858 COSM3752361 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7821 0.9489 0.6898 0.8587 0.9993 0.6999 0.7167 0.7763 0.9401 0.7949 0.9495 0.7303 0.8841 0.9988 0.7076 0.7082 0.7434 hom 559.27 19 11 400109 . A G 559.27 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.44;VQSLOD=13.2737;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:45.14:592,45,0 11 403980 403980 G A exonic PKP3 synonymous SNV PKP3:NM_007183:exon11:c.G2115A:p.P705P,PKP3:NM_001303029:exon12:c.G2160A:p.P720P 0.51 0.52 0.61 0.37 0.56 0.53 0.5612 0.5345 0.6758 0.3718 0.4979 0.5678 0.5884 0.5941 0.55 0.53 0.56 0.4 0.48 rs11748 COSM4145690 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5622 0.5301 0.6626 0.6624 0.3657 0.5070 0.5626 0.5877 0.5813 0.5378 0.5380 0.6277 0.6933 0.3825 0.5149 0.5506 0.5520 het 1287.18 75 11 403980 . G A 1287.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.779;DP=75;Dels=0.00;FS=2.964;HRun=0;HaplotypeScore=1.9815;MQ=59.69;MQ0=0;MQRankSum=0.659;QD=17.16;ReadPosRankSum=0.102;VQSLOD=5.9733;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,43:75:99:1317,0,767 11 404317 404317 C T exonic PKP3 synonymous SNV PKP3:NM_007183:exon12:c.C2352T:p.F784F,PKP3:NM_001303029:exon13:c.C2397T:p.F799F 0.45 0.31 0.59 0.35 0.56 0.53 0.5364 0.3574 0.6593 0.3576 0.4914 0.5602 0.5688 0.5764 0.49 0.37 0.56 0.32 0.58 rs1134578 COSM4145691 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5449 0.3529 0.6492 0.6550 0.3558 0.5036 0.5575 0.5696 0.5770 0.4860 0.3627 0.6151 0.6967 0.3713 0.5149 0.5483 0.5418 het 1743.83 135 11 404317 . C T 1743.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.674;DP=135;Dels=0.00;FS=0.693;HRun=2;HaplotypeScore=4.4175;MQ=59.13;MQ0=0;MQRankSum=-2.374;QD=12.92;ReadPosRankSum=0.196;VQSLOD=4.3503;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,70:135:99:1774,0,1751 11 406043 406043 G A exonic SIGIRR synonymous SNV SIGIRR:NM_001135053:exon10:c.C1086T:p.V362V,SIGIRR:NM_001135054:exon10:c.C1086T:p.V362V,SIGIRR:NM_021805:exon10:c.C1086T:p.V362V 0.91 0.91 0.89 1. 0.78 0.95 0.8387 0.9019 0.9231 0.9996 0.7388 0.7719 0.8675 0.9460 0.8 0.89 0.76 0.89 0.47 rs7947 COSM4145695;COSM4145694 1(thyroid) . . . . . . . . . . . 0.934 0.022 T 0.022 0.174 B 0.015 0.162 B . . . 0.999 0.588 P . . . 3.6 0.045 T -0.1 0.085 N . . -0.984 0.342 T 0.000 0.000 T . . . 0.858 0.176 9.818 0.992 0.547 0.722 0.351 D c -0.008 -0.021 1.000 0.747 0.742 0.980 0 3.54 0.395 1.672 0.369 0.975 0.595 1.000 0.715 0.927 0.401 8.482 0.320 . ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8|ENSG00000184363.5|ENSG00000185187.8|ENSG00000184363.5|ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cortex|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8323 0.9009 0.9124 0.8826 0.9995 0.7207 0.7532 0.8275 0.9480 0.8017 0.8922 0.9087 0.8940 0.9994 0.7299 0.7376 0.7828 hom 557.92 18 11 406043 . G A 557.92 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=31.00;VQSLOD=8.9592;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:48.13:591,48,0 11 406473 406473 A C exonic SIGIRR synonymous SNV SIGIRR:NM_001135053:exon9:c.T945G:p.P315P,SIGIRR:NM_001135054:exon9:c.T945G:p.P315P,SIGIRR:NM_021805:exon9:c.T945G:p.P315P 0.91 0.91 0.89 1. 0.78 0.95 0.8314 0.9051 0.9286 0.9999 0.7293 0.7608 0.8674 0.9477 0.81 0.89 0.76 0.9 0.52 rs3087588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8324 0.9052 0.9160 0.8829 0.9997 0.7242 0.7558 0.8278 0.9489 0.8020 0.8966 0.9081 0.8933 0.9994 0.7295 0.7356 0.7813 hom 3473.80 123 11 406473 . A C 3473.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.444;DP=123;Dels=0.00;FS=3.388;HRun=1;HaplotypeScore=3.9902;MQ=58.28;MQ0=0;MQRankSum=1.503;QD=28.24;ReadPosRankSum=1.446;VQSLOD=3.9261;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,122:123:99:3439,249,0 11 406483 406483 T C exonic SIGIRR nonsynonymous SNV SIGIRR:NM_001135053:exon9:c.A935G:p.Q312R,SIGIRR:NM_001135054:exon9:c.A935G:p.Q312R,SIGIRR:NM_021805:exon9:c.A935G:p.Q312R 0.93 0.98 0.9 1. 0.78 0.95 0.8362 0.9578 0.9312 0.9999 0.7293 0.7611 0.8685 0.9478 0.82 0.95 0.76 0.91 0.53 rs3210908 COSM4145696;COSM4145697 1(thyroid) . . . . . . . . . . . 0.407 0.102 T 0.0 0.026 B 0.001 0.040 B 0.351 0.042 N 1 0.090 P 0.69 0.170 N 4.14 0.031 T -0.63 0.185 N 0.008 0.181 -1.029 0.207 T 0.000 0.000 T . . . -1.669 0.013 0.002 0.371 0.024 0.056 0.114 N c -1.509 -1.664 1.000 0.747 0.742 0.980 0 -2.77 0.055 -0.016 0.124 -1.466 0.011 0.005 0.169 0.040 0.157 7.634 0.273 . ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8|ENSG00000184363.5|ENSG00000185187.8|ENSG00000184363.5|ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8|ENSG00000185187.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cortex|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8365 0.9593 0.9188 0.8840 0.9997 0.7240 0.7563 0.8303 0.9489 0.8188 0.9547 0.9105 0.8926 0.9994 0.7296 0.7363 0.7818 hom 3284.98 117 11 406483 . T C 3284.98 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8857;MQ=58.16;MQ0=0;QD=28.08;VQSLOD=7.9796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3284,277,0 11 428385 428385 A G exonic ANO9 nonsynonymous SNV ANO9:NM_001347882:exon13:c.T763C:p.C255R,ANO9:NM_001012302:exon14:c.T1195C:p.C399R 0.92 0.99 0.75 1. 0.83 0.97 0.8355 0.9655 0.7131 0.9995 0.7798 0.7890 0.8779 0.9584 0.85 0.96 0.79 0.92 0.76 rs10794323 . . . . . . . . . . . . . 0.529 0.070 T 0.0 0.026 B 0.002 0.063 B 0.002 0.008 N 1 0.090 P -0.665 0.020 N 0.11 0.612 T 2.44 0.003 N 0.033 0.045 -0.982 0.346 T 0.000 0.000 T . . . -2.191 0.006 0.001 0.162 0.004 0.023 0.066 N c -2.605 -2.626 0.999 0.391 0.706 0.609 0 -8.87 0.007 -2.482 0.011 -1.992 0.005 0.000 0.063 0.000 0.016 2.251 0.038 . ENSG00000023191.12|ENSG00000185101.8|ENSG00000023191.12|ENSG00000174915.7|ENSG00000023191.12|ENSG00000174915.7|ENSG00000023191.12|ENSG00000185101.8|ENSG00000023191.12 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid 0.8283 0.9662 0.7137 0.8673 0.9994 0.7771 0.7877 0.8369 0.9584 0.8414 0.9616 0.7685 0.8576 0.9994 0.7758 0.7742 0.8268 het 475.24 49 11 428385 . A G 475.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.333;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7965;MQ=60.00;MQ0=0;MQRankSum=1.559;QD=9.70;ReadPosRankSum=0.623;VQSLOD=5.6374;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,21:49:99:505,0,740 11 428489 428489 T C exonic ANO9 nonsynonymous SNV ANO9:NM_001347882:exon12:c.A739G:p.I247V,ANO9:NM_001012302:exon13:c.A1171G:p.I391V 0.92 0.99 0.75 1. 0.82 0.97 0.8208 0.9624 0.7144 0.9995 0.7639 0.7668 0.8614 0.9487 0.83 0.96 0.77 0.94 0.8 rs10794324 . . . . . . . . . . . . . 0.402 0.104 T 0.0 0.026 B 0.002 0.063 B 0.040 0.019 N 1 0.090 P -0.625 0.021 N 0.0 0.626 T 0.2 0.049 N 0.005 0.006 -0.964 0.384 T 0.000 0.000 T . . . -3.502 0.000 0.001 0.280 0.014 0.014 0.048 N c -2.276 -2.261 0.752 0.234 0.635 0.413 0 -3.98 0.038 -0.324 0.080 -3.669 0.001 0.000 0.063 0.000 0.016 2.877 0.052 . ENSG00000023191.12|ENSG00000023191.12|ENSG00000185101.8|ENSG00000023191.12|ENSG00000174915.7|ENSG00000023191.12|ENSG00000023191.12|ENSG00000185101.8|ENSG00000023191.12 Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Thyroid|Thyroid 0.8143 0.9636 0.7138 0.8264 0.9994 0.7680 0.7660 0.8252 0.9484 0.8245 0.9598 0.7679 0.7933 0.9994 0.7583 0.7478 0.8004 het 994.02 86 11 428489 . T C 994.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.136;DP=86;Dels=0.00;FS=5.586;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=0.468;QD=11.56;ReadPosRankSum=0.043;VQSLOD=5.5122;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,39:86:99:1024,0,1201 11 433387 433387 A G exonic ANO9 nonsynonymous SNV ANO9:NM_001012302:exon4:c.T277C:p.F93L 1. 1. 1. 1. 1. 1. 1.0000 1 1 0.9995 1 1 1 1 . . . 1. 0.92 rs7395065 COSM4145701 1(NS);2(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9996 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 4363.79 141 11 433387 . A G 4363.79 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7134;MQ=59.36;MQ0=0;QD=30.95;VQSLOD=8.0556;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4363,346,0 11 494942 494942 G C exonic RNH1 synonymous SNV RNH1:NM_203384:exon9:c.C1239G:p.A413A,RNH1:NM_203385:exon9:c.C1239G:p.A413A,RNH1:NM_203388:exon9:c.C1239G:p.A413A,RNH1:NM_203389:exon9:c.C1239G:p.A413A,RNH1:NM_002939:exon10:c.C1239G:p.A413A,RNH1:NM_203383:exon10:c.C1239G:p.A413A,RNH1:NM_203386:exon10:c.C1239G:p.A413A,RNH1:NM_203387:exon10:c.C1239G:p.A413A 0.33 0.53 0.37 0.19 0.31 0.22 0.3270 0.5072 0.4018 0.1971 0.3093 0.3267 0.3011 0.2468 0.38 0.5 0.31 0.38 0.22 rs7983 COSM1746290 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3106 0.4928 0.3872 0.3112 0.1806 0.2923 0.3111 0.3062 0.2274 0.3720 0.5001 0.3747 0.2947 0.2070 0.2987 0.3363 0.3357 het 339.98 19 11 494942 . G C 339.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.184;DP=19;Dels=0.00;FS=9.425;HRun=2;HaplotypeScore=0.9789;MQ=56.99;MQ0=0;MQRankSum=-0.395;QD=17.89;ReadPosRankSum=1.009;VQSLOD=2.2689;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,13:19:99:370,0,138 11 534242 534242 A G exonic HRAS synonymous SNV HRAS:NM_001130442:exon2:c.T81C:p.H27H,HRAS:NM_005343:exon2:c.T81C:p.H27H,HRAS:NM_176795:exon2:c.T81C:p.H27H 0.3 0.37 0.36 0.17 0.31 0.26 0.3135 0.3771 0.3680 0.1893 0.2630 0.3297 0.2805 0.2579 0.35 0.37 0.34 0.39 0.28 rs12628 COSM3752426;COSM249860 1(haematopoietic_and_lymphoid_tissue);25(urinary_tract);10(soft_tissue);1(skin);1(thyroid);1(large_intestine) Benign|Benign not_specified|Rasopathy RCV000038468.7|RCV000149841.1 MedGen|MedGen:Orphanet CN169374|CN166718:ORPHA98733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3157 0.3789 0.3814 0.2712 0.1885 0.2675 0.3384 0.3086 0.2520 0.3432 0.3836 0.3600 0.2616 0.2135 0.2675 0.3542 0.3134 het 747.75 69 11 534242 . A G 747.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.417;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5769;MQ=57.92;MQ0=0;MQRankSum=0.344;QD=10.84;ReadPosRankSum=-0.822;VQSLOD=5.3441;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,34:69:99:778,0,880 11 549959 549959 C T exonic LRRC56 synonymous SNV LRRC56:NM_198075:exon7:c.C384T:p.L128L 0.78 0.62 0.84 0.92 0.82 0.77 0.8120 0.6542 0.8921 0.9150 0.8028 0.8165 0.7942 0.7867 0.76 0.65 0.82 0.66 0.78 rs7942030 COSM3765570 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8181 0.6462 0.8916 0.8046 0.9123 0.8003 0.8193 0.8001 0.7862 0.7696 0.6401 0.8648 0.7980 0.8952 0.7966 0.8182 0.7863 hom 3079.22 98 11 549959 . C T 3079.22 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4105;MQ=58.45;MQ0=0;QD=31.42;VQSLOD=8.9059;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3112,247,0 11 551753 551753 G A exonic LRRC56 nonsynonymous SNV LRRC56:NM_198075:exon10:c.G899A:p.R300H 0.65 0.44 0.64 0.87 0.66 0.69 0.6563 0.4653 0.6476 0.8572 0.6852 0.6450 0.6667 0.7048 0.58 0.46 0.63 0.5 0.48 rs4963198 COSM4145813 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.215 0.193 T 0.0 0.026 B 0.0 0.013 B 0.011 0.298 N 1 0.090 P -0.69 0.019 N 2.97 0.095 T 0.02 0.068 N 0.026 0.008 -1.065 0.106 T 0.000 0.000 T . . . 1.217 0.212 11.83 0.683 0.084 0.054 0.111 N c -1.427 -1.368 1.000 0.747 0.646 0.450 0 3.21 0.358 -0.021 0.123 -1.550 0.010 0.000 0.063 0.002 0.062 6.995 0.238 . ENSG00000177042.10|ENSG00000174915.7|ENSG00000174775.12|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174915.7|ENSG00000069696.6|ENSG00000174915.7|ENSG00000174915.7|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000174775.12|ENSG00000174915.7|ENSG00000174915.7|ENSG00000174775.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.6570 0.4585 0.6401 0.6483 0.8584 0.6812 0.6411 0.6501 0.7041 0.5989 0.4543 0.6471 0.6424 0.8459 0.6786 0.6314 0.6417 het 240.29 23 11 551753 . G A 240.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.362;DP=23;Dels=0.00;FS=7.060;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.220;QD=10.45;ReadPosRankSum=-1.543;VQSLOD=3.8455;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,9:23:99:270,0,400 11 554047 554047 G A exonic LRRC56 nonsynonymous SNV LRRC56:NM_198075:exon14:c.G1400A:p.R467Q 0.16 0.23 0.25 0.048 0.19 0.08 0.1822 0.2430 0.2727 0.0578 0.1268 0.2033 0.1553 0.0855 0.22 0.24 0.22 0.2 0.17 rs12793222 . . . . . . . . . . . . . 0.478 0.083 T 0.792 0.427 P 0.138 0.318 B . . . 1 0.090 P . . . 3.01 0.091 T -0.26 0.112 N 0.024 0.007 -0.904 0.476 T 0.000 0.000 T . . . 1.398 0.231 12.78 0.942 0.239 0.047 0.102 N c -0.735 -0.827 1.000 0.441 0.701 0.575 0 2.23 0.271 0.740 0.257 0.126 0.213 0.733 0.287 0.001 0.043 6.219 0.198 . ENSG00000177042.10|ENSG00000174915.7|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000255158.1|ENSG00000174775.12|ENSG00000254815.1|ENSG00000174915.7|ENSG00000177042.10|ENSG00000069696.6|ENSG00000174775.12|ENSG00000174775.12|ENSG00000023191.12|ENSG00000174915.7|ENSG00000185101.8|ENSG00000069696.6|ENSG00000174775.12|ENSG00000254815.1|ENSG00000174915.7|ENSG00000023191.12|ENSG00000174775.12|ENSG00000174915.7|ENSG00000174915.7|ENSG00000174775.12|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174915.7|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174915.7|ENSG00000023191.12|ENSG00000174775.12|ENSG00000177042.10|ENSG00000185507.15|ENSG00000174775.12|ENSG00000174775.12|ENSG00000254815.1|ENSG00000185101.8|ENSG00000174775.12|ENSG00000174915.7|ENSG00000185101.8|ENSG00000023191.12|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174915.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1834 0.2361 0.2789 0.1743 0.0543 0.1286 0.2073 0.1835 0.0830 0.2003 0.2361 0.2476 0.1722 0.0507 0.1287 0.2127 0.1636 het 2375.41 153 11 554047 . G A 2375.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.371;DP=153;DS;Dels=0.00;FS=1.661;HRun=0;HaplotypeScore=4.5351;MQ=59.61;MQ0=0;MQRankSum=-0.696;QD=15.53;ReadPosRankSum=1.961;VQSLOD=4.5643;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,80:153:99:2405,0,1983 11 554166 554166 C G exonic LRRC56 nonsynonymous SNV LRRC56:NM_198075:exon14:c.C1519G:p.R507G 0.79 0.71 0.87 0.87 0.83 0.73 0.8169 0.7131 0.8988 0.8787 0.8373 0.8207 0.8314 0.7635 0.79 0.72 0.82 0.64 0.66 rs10902170 COSM4145815 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.831 0.091 N 1 0.090 P -1.15 0.009 N 3.21 0.071 T 2.62 0.002 N 0.006 0.000 -1.010 0.269 T 0.000 0.000 T . . . -1.056 0.030 0.012 0.333 0.020 0.000 0.002 N c -1.952 -1.907 1.000 0.424 0.701 0.575 0 -1.47 0.083 0.516 0.224 -1.402 0.012 0.001 0.137 0.001 0.043 5.062 0.138 . ENSG00000174775.12 Testis 0.8209 0.7072 0.8973 0.8286 0.8752 0.8370 0.8169 0.8349 0.7629 0.7958 0.7179 0.8675 0.8146 0.8560 0.8415 0.8189 0.8035 hom 1818.18 54 11 554166 . C G 1818.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.770;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=59.65;MQ0=0;MQRankSum=0.642;QD=33.67;ReadPosRankSum=1.476;VQSLOD=9.2766;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,53:54:99:1851,114,0 11 554214 554214 G C exonic LRRC56 nonsynonymous SNV LRRC56:NM_198075:exon14:c.G1567C:p.D523H 0.79 0.71 0.85 0.87 0.83 0.74 0.8171 0.7100 0.8923 0.8787 0.8356 0.8204 0.8236 0.7565 0.78 0.71 0.82 0.51 0.68 rs10902171 COSM3765571 1(liver);1(thyroid) . . . . . . . . . . . 0.119 0.280 T 0.983 0.585 D 0.615 0.494 P 0.457 0.124 N 1 0.090 P 1.585 0.400 L 2.85 0.106 T -1.18 0.301 N 0.075 0.065 -1.097 0.044 T 0.000 0.000 T . . . 2.312 0.339 18.25 0.984 0.407 0.104 0.158 N c -0.352 -0.516 1.000 0.451 0.660 0.495 0 2.51 0.293 1.939 0.396 0.099 0.198 0.014 0.188 0.018 0.130 6.766 0.226 . ENSG00000174775.12 Testis 0.8094 0.7018 0.8799 0.7962 0.8713 0.8227 0.8103 0.8103 0.7416 0.7928 0.7135 0.8648 0.8113 0.8564 0.8367 0.8169 0.8012 hom 2305.37 69 11 554214 . G C 2305.37 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;QD=33.41;VQSLOD=9.0501;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2338,184,0 11 557989 557989 C T exonic LMNTD2 synonymous SNV LMNTD2:NM_173573:exon5:c.G450A:p.Q150Q 0.47 0.15 0.44 0.67 0.57 0.62 0.5546 0.2132 0.4146 0.6731 0.6608 0.5918 0.5738 0.6144 0.44 0.22 0.56 0.35 . rs7129811 COSM4145822 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5466 0.1998 0.4070 0.6479 0.6659 0.6500 0.5760 0.5540 0.5970 0.4700 0.2103 0.4523 0.6391 0.6602 0.6445 0.5504 0.5798 het 530.63 40 11 557989 . C T 530.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.150;DP=40;Dels=0.00;FS=1.326;HRun=1;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;MQRankSum=0.720;QD=13.27;ReadPosRankSum=-0.231;VQSLOD=5.9591;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,18:40:99:561,0,684 11 558884 558884 C T exonic LMNTD2 nonsynonymous SNV LMNTD2:NM_173573:exon2:c.G130A:p.A44T 0.76 0.56 0.85 0.86 0.82 0.79 0.8094 0.6018 0.8989 0.8653 0.8053 0.8264 0.8031 0.7789 0.75 0.6 0.83 0.66 . rs2061586 COSM4145823 1(thyroid) . . . . . . . . . . . 0.586 0.059 T 0.0 0.026 B 0.0 0.013 B 0.599 0.056 N 1 0.090 P -1.75 0.003 N 0.97 0.433 T 1.02 0.014 N 0.03 0.260 -0.951 0.408 T 0.000 0.000 T . . . 0.053 0.099 3.111 0.636 0.071 0.001 0.004 N c -2.054 -2.081 1.000 0.747 0.653 0.483 0 -7.0 0.014 -2.002 0.015 -3.385 0.001 0.000 0.063 0.000 0.016 0.247 0.002 . ENSG00000174775.12 Testis 0.8154 0.5912 0.8944 0.8584 0.8605 0.8051 0.8222 0.8241 0.7821 0.7528 0.5966 0.8813 0.8567 0.8358 0.8042 0.8101 0.8021 hom 1108.27 35 11 558884 . C T 1108.27 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7480;MQ=60.00;MQ0=0;QD=31.66;VQSLOD=8.5580;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:99:1141,99,0 11 562437 562437 G A exonic RASSF7 synonymous SNV RASSF7:NM_001143993:exon3:c.G483A:p.R161R,RASSF7:NM_001143994:exon3:c.G483A:p.R161R,RASSF7:NM_003475:exon3:c.G483A:p.R161R 0.16 0.24 0.25 0.019 0.19 0.083 0.1738 0.2729 0.2765 0.0322 0.2458 0.2277 0.1186 0.0913 0.21 0.23 0.2 0.25 0.066 rs11246189 COSM5024129;COSM5024128 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1803 0.2368 0.2775 0.1729 0.0265 0.1287 0.2120 0.1895 0.0850 0.1996 0.2359 0.2458 0.1667 0.0321 0.1290 0.2134 0.1653 het 144.41 16 11 562437 . G A 144.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.158;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=0.683;QD=9.03;ReadPosRankSum=1.943;VQSLOD=5.0160;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:174,0,266 11 587425 587425 C A exonic PHRF1 synonymous SNV PHRF1:NM_001286581:exon4:c.C381A:p.A127A,PHRF1:NM_001286582:exon4:c.C378A:p.A126A,PHRF1:NM_001286583:exon4:c.C369A:p.A123A,PHRF1:NM_020901:exon4:c.C381A:p.A127A 0.16 0.25 0.24 0.02 0.21 0.087 0.1924 0.2591 0.2822 0.0271 0.1492 0.2150 0.1763 0.1028 0.24 0.25 0.24 0.27 . rs12800061 COSM3998492;COSM3998491 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1949 0.2580 0.2819 0.2076 0.0278 0.1498 0.2193 0.1972 0.1018 0.2143 0.2616 0.2650 0.2252 0.0339 0.1458 0.2208 0.1926 het 1316.62 116 11 587425 . C A 1316.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.489;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6643;MQ=59.19;MQ0=0;MQRankSum=0.072;QD=11.35;ReadPosRankSum=-1.059;VQSLOD=6.2574;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,53:116:99:1347,0,1704 11 607175 607175 G A exonic PHRF1 synonymous SNV PHRF1:NM_001286581:exon14:c.G1719A:p.P573P,PHRF1:NM_001286582:exon14:c.G1713A:p.P571P,PHRF1:NM_001286583:exon14:c.G1707A:p.P569P,PHRF1:NM_020901:exon14:c.G1716A:p.P572P 0.13 0.15 0.23 0.018 0.2 0.082 0.1806 0.1712 0.2802 0.0238 0.1445 0.2093 0.1678 0.0997 0.21 0.17 0.23 0.24 . rs936468 COSM429377;COSM429376 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1832 0.1664 0.2750 0.1784 0.0239 0.145 0.2138 0.1867 0.0996 0.1841 0.1706 0.2524 0.1846 0.0296 0.1418 0.2148 0.1851 het 464.92 32 11 607175 . G A 464.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.766;DP=32;Dels=0.00;FS=3.325;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.741;QD=14.53;ReadPosRankSum=-0.057;VQSLOD=6.0244;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,18:32:99:495,0,367 11 609353 609353 G A exonic PHRF1 synonymous SNV PHRF1:NM_001286581:exon14:c.G3897A:p.P1299P,PHRF1:NM_001286582:exon14:c.G3891A:p.P1297P,PHRF1:NM_001286583:exon14:c.G3885A:p.P1295P,PHRF1:NM_020901:exon14:c.G3894A:p.P1298P 0.19 0.34 0.25 0.02 0.21 0.084 0.1985 0.3282 0.2878 0.0269 0.1483 0.2172 0.1789 0.0970 0.26 0.32 0.24 0.32 . rs11539530 COSM3998511;COSM3998512 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1993 0.3244 0.2854 0.2104 0.0276 0.1480 0.2207 0.2019 0.0954 0.2331 0.3252 0.2734 0.2285 0.0340 0.1450 0.2218 0.1976 het 627.68 49 11 609353 . G A 627.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.424;DP=49;Dels=0.00;FS=4.240;HRun=0;HaplotypeScore=3.7061;MQ=58.76;MQ0=0;MQRankSum=0.743;QD=12.81;ReadPosRankSum=-1.672;VQSLOD=5.1382;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,23:49:99:658,0,684 11 613208 613208 T C exonic IRF7 nonsynonymous SNV IRF7:NM_004031:exon7:c.A1274G:p.Q425R,IRF7:NM_004029:exon8:c.A1148G:p.Q383R,IRF7:NM_001572:exon9:c.A1235G:p.Q412R 0.28 0.58 0.3 0.021 0.27 0.11 0.2541 0.5162 0.3117 0.0284 0.1933 0.2644 0.2590 0.1490 0.36 0.51 0.29 0.29 0.18 rs1131665 COSM4145976;COSM4909406 8(soft_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.090 B 0.002 0.080 B 0.271 0.038 N 1 0.090 P 0.165 0.090 N -3.28 0.937 D -0.3 0.119 N 0.022 0.020 -1.021 0.234 T 0.000 0.000 T . . . -2.972 0.001 0.001 0.405 0.028 0.180 0.199 N c -2.253 -2.251 1.000 0.747 0.628 0.401 0 -5.89 0.021 -0.185 0.096 -1.954 0.005 0.060 0.216 0.635 0.295 12.654 0.560 Interferon regulatory factor-3|SMAD domain-like|SMAD/FHA domain ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174915.7|ENSG00000177106.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000070047.7|ENSG00000069696.6|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000185507.15|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.2494 0.5167 0.3198 0.3331 0.0280 0.1859 0.2629 0.2683 0.1399 0.3201 0.5243 0.3115 0.3212 0.0346 0.1919 0.2675 0.2428 het 141.85 23 11 613208 . T C 141.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.397;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.634;QD=6.17;ReadPosRankSum=-0.775;VQSLOD=10.0571;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,7:23:99:172,0,467 11 613297 613297 T G exonic IRF7 synonymous SNV IRF7:NM_004031:exon7:c.A1185C:p.G395G,IRF7:NM_004029:exon8:c.A1059C:p.G353G,IRF7:NM_001572:exon9:c.A1146C:p.G382G 0.3 0.59 0.33 0.047 0.28 0.16 0.2556 0.5179 0.3293 0.0280 0.2080 0.2681 0.2556 0.1476 0.34 0.49 0.27 0.21 0.16 rs1061505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2524 0.5169 0.3252 0.3320 0.0284 0.1905 0.2667 0.2710 0.1408 0.3209 0.5239 0.3122 0.3212 0.0342 0.1921 0.2692 0.2443 het 144.20 20 11 613297 . T G 144.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.059;DP=20;Dels=0.00;FS=2.081;HRun=5;HaplotypeScore=1.4450;MQ=58.84;MQ0=0;MQRankSum=-0.106;QD=7.21;ReadPosRankSum=0.106;VQSLOD=4.9926;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:174,0,232 11 614318 614318 T C exonic IRF7 nonsynonymous SNV IRF7:NM_004031:exon4:c.A574G:p.K192E,IRF7:NM_001572:exon6:c.A535G:p.K179E,IRF7:NM_004029:exon6:c.A535G:p.K179E 0.28 0.58 0.3 0.021 0.27 0.11 0.2688 0.5370 0.3377 0.0295 0.2136 0.2793 0.2570 0.1527 0.37 0.52 0.29 0.38 0.2 rs1061502 COSM3722187;COSM4998062 1(pancreas);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P 0.755 0.192 N -2.89 0.957 D 0.37 0.036 N 0.056 0.061 -1.031 0.200 T 0.000 0.000 T . . . -3.245 0.001 0.001 0.458 0.036 0.032 0.081 N c -2.073 -2.141 1.000 0.747 0.461 0.090 0 -5.21 0.026 -3.685 0.004 -2.077 0.004 0.000 0.063 0.000 0.016 3.773 0.081 . ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174915.7|ENSG00000177106.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000070047.7|ENSG00000069696.6|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000185507.15|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.2525 0.5241 0.3224 0.3324 0.0280 0.1883 0.2658 0.2671 0.1401 0.3203 0.5256 0.3115 0.3212 0.0346 0.1918 0.2674 0.2429 het 310.98 22 11 614318 . T C 310.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.935;DP=22;Dels=0.00;FS=4.612;HRun=0;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;MQRankSum=-0.067;QD=14.14;ReadPosRankSum=0.334;VQSLOD=4.9231;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:341,0,237 11 614864 614864 C T exonic IRF7 synonymous SNV IRF7:NM_004031:exon2:c.G366A:p.R122R,IRF7:NM_001572:exon4:c.G327A:p.R109R,IRF7:NM_004029:exon4:c.G327A:p.R109R 0.82 0.85 0.8 0.75 0.87 0.79 0.8608 0.8698 0.8085 0.7870 0.8745 0.8889 0.8940 0.8222 0.87 0.85 0.88 0.75 0.37 rs1061501 COSM4784496;COSM3752553 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8336 0.8388 0.7617 0.9061 0.7380 0.8573 0.8689 0.8593 0.8169 0.8449 0.8470 0.7811 0.8974 0.7209 0.8618 0.8554 0.8490 hom 313.48 10 11 614864 . C T 313.48 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.35;VQSLOD=13.4693;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:346,27,0 11 617378 617378 C T exonic CDHR5 synonymous SNV CDHR5:NM_031264:exon14:c.G1929A:p.A643A,CDHR5:NM_001171968:exon15:c.G2493A:p.A831A,CDHR5:NM_021924:exon15:c.G2511A:p.A837A 0.28 0.59 0.3 0.021 0.27 0.11 0.2556 0.5175 0.3085 0.0280 0.2176 0.2686 0.2454 0.1503 0.37 0.52 0.29 0.4 0.2 rs61877856 COSM4145982 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2497 0.5116 0.3160 0.3297 0.0273 0.2090 0.2613 0.2669 0.1430 0.3248 0.5242 0.3115 0.3212 0.0347 0.2175 0.2712 0.2505 het 48.07 20 11 617378 . C T 48.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.843;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4679;MQ=58.84;MQ0=0;MQRankSum=0.520;QD=2.40;ReadPosRankSum=-0.331;VQSLOD=3.0857;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,4:20:78.06:78,0,500 11 617420 617420 A G exonic CDHR5 synonymous SNV CDHR5:NM_031264:exon14:c.T1887C:p.D629D,CDHR5:NM_001171968:exon15:c.T2451C:p.D817D,CDHR5:NM_021924:exon15:c.T2469C:p.D823D 0.28 0.59 0.3 0.021 0.27 0.11 0.2498 0.5195 0.3111 0.0270 0.1863 0.2626 0.2463 0.1450 0.37 0.52 0.29 0.35 0.18 rs61877857 COSM429422 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2485 0.5177 0.3187 0.3319 0.0272 0.1833 0.2610 0.2665 0.1440 0.3202 0.5263 0.3110 0.3212 0.0340 0.1920 0.2676 0.2429 het 345.99 46 11 617420 . A G 345.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.171;DP=46;Dels=0.00;FS=1.602;HRun=0;HaplotypeScore=2.5312;MQ=58.48;MQ0=0;MQRankSum=1.165;QD=7.52;ReadPosRankSum=-0.357;VQSLOD=4.8524;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,16:46:99:376,0,888 11 617537 617537 C T exonic CDHR5 synonymous SNV CDHR5:NM_031264:exon14:c.G1770A:p.P590P,CDHR5:NM_001171968:exon15:c.G2334A:p.P778P,CDHR5:NM_021924:exon15:c.G2352A:p.P784P 0.48 0.19 0.46 0.7 0.56 0.6 0.5555 0.2699 0.4292 0.6976 0.6721 0.5811 0.5835 0.5749 0.45 0.26 0.54 0.34 0.57 rs2740380 COSM4145983 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5443 0.2475 0.4152 0.5422 0.6932 0.6532 0.5676 0.5512 0.5773 0.4821 0.2547 0.4439 0.5298 0.6785 0.6490 0.5501 0.5615 het 1235.43 74 11 617537 . C T 1235.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.374;DP=74;Dels=0.00;FS=4.579;HRun=0;HaplotypeScore=5.9692;MQ=57.85;MQ0=0;MQRankSum=-0.044;QD=16.69;ReadPosRankSum=1.809;VQSLOD=2.8804;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,49:74:99:1265,0,392 11 617967 617967 C G exonic CDHR5 nonsynonymous SNV CDHR5:NM_031264:exon13:c.G1523C:p.C508S,CDHR5:NM_001171968:exon14:c.G2087C:p.C696S,CDHR5:NM_021924:exon14:c.G2105C:p.C702S 0.98 0.93 0.99 1. 1. 1. 0.9939 0.9316 0.9975 1 1 0.9998 0.9988 0.9999 0.98 0.94 1. 0.92 0.92 rs2740379 COSM4145984 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 1.45 0.354 T 3.3 0.001 N 0.099 0.155 -1.011 0.266 T 0.000 0.000 T . . . -1.469 0.018 0.003 0.701 0.089 0.000 0.002 N c -1.587 -1.512 1.000 0.462 0.403 0.052 0 1.07 0.193 -0.768 0.048 0.009 0.139 0.000 0.063 0.111 0.193 4.873 0.129 . . . 0.9952 0.9314 0.9971 1 1 1 0.9997 0.9974 0.9998 0.9821 0.9375 0.9976 1 0.9994 1 0.9998 0.9959 hom 1239.94 35 11 617967 . C G 1239.94 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.26;MQ0=0;QD=35.43;VQSLOD=9.2468;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:99:1273,99,0 11 618013 618013 C T exonic CDHR5 nonsynonymous SNV CDHR5:NM_031264:exon13:c.G1477A:p.A493T,CDHR5:NM_001171968:exon14:c.G2041A:p.A681T,CDHR5:NM_021924:exon14:c.G2059A:p.A687T 0.17 0.27 0.25 0.02 0.21 0.091 0.1971 0.2757 0.2845 0.0273 0.1528 0.2190 0.1787 0.1082 0.25 0.28 0.24 0.27 0.16 rs7108757 COSM3773606 1(kidney);1(large_intestine) . . . . . . . . . . . 0.445 0.264 T 0.0 0.119 B 0.001 0.080 B . . . 1 0.090 P . . . 1.01 0.449 T -0.65 0.232 N 0.024 0.045 -0.977 0.358 T 0.000 0.000 T . . . -0.426 0.060 0.334 0.713 0.093 0.021 0.062 N c -1.680 -1.738 1.000 0.454 0.498 0.195 0 -3.27 0.047 -1.036 0.036 -0.042 0.124 0.000 0.063 0.001 0.043 9.585 0.385 . ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000099834.14|ENSG00000174915.7|ENSG00000177042.10|ENSG00000069696.6|ENSG00000174775.12|ENSG00000177042.10|ENSG00000069696.6|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174915.7|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000185507.15|ENSG00000177030.12|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000023191.12|ENSG00000174775.12|ENSG00000177042.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood 0.1962 0.2645 0.2819 0.2243 0.0278 0.1459 0.2203 0.2013 0.1048 0.2182 0.2708 0.2698 0.2417 0.0334 0.1454 0.2227 0.1992 het 375.30 34 11 618013 . C T 375.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.755;DP=34;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=0.5784;MQ=57.06;MQ0=0;MQRankSum=0.982;QD=11.04;ReadPosRankSum=-0.869;VQSLOD=3.8284;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,17:34:99:405,0,395 11 618998 618998 G A exonic CDHR5 nonsynonymous SNV CDHR5:NM_001171968:exon13:c.C1543T:p.P515S,CDHR5:NM_021924:exon13:c.C1561T:p.P521S 0.5 0.24 0.47 0.7 0.56 0.6 0.5455 0.2930 0.4228 0.6943 0.6540 0.5681 0.5678 0.5728 0.45 0.29 0.54 0.37 0.53 rs2740375 COSM3765574 1(liver);3(thyroid) . . . . . . . . . . . 0.409 0.102 T 0.093 0.238 B 0.032 0.208 B 0.889 0.087 N 1 0.090 P 1.21 0.306 L 1.01 0.411 T -0.27 0.114 N 0.064 0.049 -0.967 0.379 T 0.000 0.000 T . . . -0.721 0.044 0.064 0.653 0.075 0.014 0.046 N c -1.040 -1.071 0.724 0.230 0.581 0.326 0 1.56 0.223 0.307 0.189 0.036 0.152 0.005 0.169 0.013 0.120 4.844 0.128 . ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177106.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000069696.6|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.5420 0.2831 0.4153 0.5397 0.6904 0.6501 0.5612 0.5482 0.5772 0.4905 0.2928 0.4474 0.53 0.6715 0.6475 0.5472 0.5630 het 939.87 76 11 618998 . G A 939.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.362;DP=76;Dels=0.00;FS=3.973;HRun=0;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;MQRankSum=1.077;QD=12.37;ReadPosRankSum=1.132;VQSLOD=4.7303;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,38:76:99:970,0,853 11 619789 619789 T G exonic CDHR5 nonsynonymous SNV CDHR5:NM_001171968:exon10:c.A1071C:p.R357S,CDHR5:NM_021924:exon10:c.A1071C:p.R357S,CDHR5:NM_031264:exon10:c.A1071C:p.R357S 0.61 0.45 0.54 0.73 0.66 0.7 0.6501 0.4823 0.5039 0.7198 0.7258 0.6656 0.6987 0.7088 0.56 0.45 0.62 0.39 0.47 rs2246614 COSM3749172 1(thyroid);4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.955 0.002 N 2.54 0.139 T 2.48 0.002 N 0.01 0.003 -0.980 0.349 T 0.000 0.000 T . . . -1.095 0.029 0.010 0.681 0.083 0.000 0.002 N c -1.555 -1.468 0.739 0.232 0.421 0.056 0 1.96 0.251 0.096 0.149 0.040 0.155 0.003 0.159 0.579 0.285 2.603 0.045 Cadherin ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000255158.1|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000185522.4|ENSG00000177042.10|ENSG00000177042.10|ENSG00000069696.6|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000174775.12|ENSG00000177042.10|ENSG00000174915.7|ENSG00000174775.12|ENSG00000177042.10|ENSG00000069696.6|ENSG00000174775.12|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000177042.10|ENSG00000185101.8|ENSG00000023191.12|ENSG00000177042.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.6277 0.4537 0.4704 0.6797 0.7070 0.7055 0.6445 0.6516 0.7090 0.5931 0.4565 0.5048 0.6567 0.6875 0.7153 0.6339 0.6468 het 307.66 18 11 619789 . T G 307.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.808;DP=18;Dels=0.00;FS=5.008;HRun=1;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=0.362;QD=17.09;ReadPosRankSum=0.453;VQSLOD=4.3568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,11:18:99:338,0,167 11 720197 720197 C T exonic EPS8L2 synonymous SNV EPS8L2:NM_022772:exon5:c.C301T:p.L101L 0.49 0.57 0.65 0.22 0.55 0.51 0.5451 0.5480 0.6545 0.2262 0.5419 0.5771 0.5240 0.5076 0.57 0.54 0.59 0.4 0.43 rs3087546 COSM1561602 1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5479 0.5364 0.6493 0.5683 0.2192 0.5417 0.5786 0.5645 0.5114 0.5400 0.5388 0.6229 0.6026 0.2226 0.5405 0.5690 0.5439 hom 2106.64 70 11 720197 . C T 2106.64 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5168;MQ=59.73;MQ0=0;QD=30.09;VQSLOD=8.6581;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2140,169,0 11 721570 721570 C T exonic EPS8L2 synonymous SNV EPS8L2:NM_022772:exon10:c.C774T:p.I258I 0.28 0.19 0.56 0.17 0.42 0.17 0.4113 0.2217 0.5852 0.1717 0.4582 0.4686 0.3812 0.2475 0.37 0.22 0.45 0.22 0.36 rs7635 COSM1356757 1(bone);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3965 0.2036 0.5597 0.3346 0.1614 0.4685 0.4594 0.4215 0.2062 0.3849 0.2042 0.5397 0.3667 0.1801 0.4816 0.4783 0.4343 hom 1370.26 41 11 721570 . C T 1370.26 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.42;VQSLOD=14.0671;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1403,114,0 11 771034 771034 A G exonic GATD1 synonymous SNV GATD1:NM_001318822:exon5:c.T357C:p.T119T,GATD1:NM_001318818:exon6:c.T465C:p.T155T,GATD1:NM_001318820:exon6:c.T507C:p.T169T,GATD1:NM_001318823:exon6:c.T465C:p.T155T,GATD1:NM_001318824:exon6:c.T507C:p.T169T,GATD1:NM_001318821:exon7:c.T615C:p.T205T,GATD1:NM_182612:exon7:c.T615C:p.T205T 0.43 0.31 0.6 0.56 0.44 0.34 0.4820 0.3393 0.6377 0.5711 0.5042 0.4952 0.4425 0.3565 0.44 0.34 0.49 0.38 0.33 rs7930569 COSM3931445 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4804 0.3234 0.6191 0.3668 0.5584 0.5026 0.4918 0.4686 0.3453 0.4633 0.3312 0.5873 0.4205 0.5559 0.5155 0.5102 0.4918 hom 1040.94 33 11 771034 . A G 1040.94 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=31.54;VQSLOD=9.4404;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:87.25:1074,87,0 11 772490 772490 G A exonic GATD1 synonymous SNV GATD1:NM_001318822:exon3:c.C129T:p.A43A,GATD1:NM_001318818:exon4:c.C237T:p.A79A,GATD1:NM_001318820:exon4:c.C279T:p.A93A,GATD1:NM_001318823:exon4:c.C237T:p.A79A,GATD1:NM_001318824:exon4:c.C279T:p.A93A,GATD1:NM_001318821:exon5:c.C387T:p.A129A,GATD1:NM_182612:exon5:c.C387T:p.A129A 0.31 0.17 0.59 0.28 0.44 0.19 0.4248 0.2056 0.6261 0.2947 0.4877 0.4830 0.4009 0.2311 0.39 0.22 0.48 0.27 0.37 rs12224894 COSM3998589;COSM3998590 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4328 0.1967 0.6098 0.3540 0.2775 0.5049 0.4852 0.4413 0.2278 0.4091 0.2007 0.5811 0.4007 0.2908 0.5155 0.5053 0.4579 hom 4438.86 140 11 772490 . G A 4438.86 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=31.71;VQSLOD=9.7624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4438,337,0 11 802379 802379 T C exonic PIDD1 nonsynonymous SNV PIDD1:NM_145886:exon6:c.A992G:p.Q331R,PIDD1:NM_145887:exon6:c.A992G:p.Q331R 0.35 0.29 0.64 0.27 0.49 0.16 0.4552 0.3122 0.6790 0.2697 0.5683 0.5072 0.4885 0.2297 0.45 0.32 0.51 0.35 0.36 rs10902221 COSM3752766;COSM3752765 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.478 0.083 T 0.0 0.026 B 0.002 0.063 B 0.781 0.095 N 1 0.090 P 2.08 0.576 M 1.26 0.379 T -0.01 0.092 N 0.219 0.269 -0.956 0.399 T 0.000 0.000 T . . . -1.119 0.028 0.009 0.701 0.089 0.058 0.116 N c -1.700 -1.691 1.000 0.454 0.707 0.730 0 -3.74 0.041 -0.500 0.064 -1.306 0.014 0.001 0.137 0.587 0.286 8.803 0.339 ZU5 domain ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000177600.4|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000177666.11|ENSG00000177236.3|ENSG00000255108.1|ENSG00000255284.1|ENSG00000177666.11|ENSG00000177236.3|ENSG00000177666.11|ENSG00000177236.3|ENSG00000177236.3|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177236.3|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000184524.5|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000184524.5|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000177685.12|ENSG00000177236.3|ENSG00000177236.3|ENSG00000255284.1|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000255284.1|ENSG00000255142.1|ENSG00000177236.3|ENSG00000177595.13|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255142.1|ENSG00000177236.3|ENSG00000255284.1|ENSG00000177595.13|ENSG00000255142.1|ENSG00000177236.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.4637 0.2950 0.6604 0.3692 0.2542 0.5750 0.5104 0.4892 0.2267 0.4574 0.2923 0.6220 0.4139 0.2705 0.5814 0.5315 0.5340 hom 1543.80 52 11 802379 . T C 1543.80 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4875;MQ=57.73;MQ0=0;QD=29.69;VQSLOD=7.5953;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1577,138,0 11 804212 804212 C A exonic PIDD1 synonymous SNV PIDD1:NM_145886:exon2:c.G177T:p.L59L,PIDD1:NM_145887:exon2:c.G177T:p.L59L 0.35 0.29 0.64 0.27 0.49 0.16 0.4548 0.3120 0.6793 0.2647 0.5679 0.5075 0.4863 0.2286 0.45 0.32 0.51 0.17 0.43 rs7104785 COSM4146371;COSM4146370 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4629 0.2956 0.6600 0.3684 0.2500 0.5745 0.5102 0.4884 0.2252 0.4564 0.2906 0.6217 0.4139 0.2664 0.5819 0.5309 0.5316 hom 1532.68 50 11 804212 . C A 1532.68 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=30.65;VQSLOD=8.6788;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1566,123,0 11 823809 823809 C G exonic PNPLA2 synonymous SNV PNPLA2:NM_020376:exon7:c.C873G:p.P291P 0.27 0.081 0.19 0.41 0.26 0.43 0.3462 0.1433 0.2770 0.4474 0.3807 0.3303 0.3513 0.4556 0.19 0.093 0.24 0.17 0.2 rs1135628 COSM3723120 1(thyroid);2(upper_aerodigestive_tract) Benign|Benign not_specified|Neutral_lipid_storage_disease_with_myopathy RCV000244079.1|RCV000261463.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1853136:610717:ORPHA98908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2734 0.0950 0.1958 0.3905 0.3989 0.2497 0.2489 0.2732 0.4255 0.2028 0.0973 0.2105 0.3874 0.3888 0.2411 0.2282 0.2454 het 379.30 29 11 823809 . C G 379.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.764;DP=29;Dels=0.00;FS=8.557;HRun=2;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-1.113;QD=13.08;ReadPosRankSum=0.502;VQSLOD=3.5623;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:409,0,357 11 862652 862652 T C exonic TSPAN4 synonymous SNV TSPAN4:NM_001025238:exon3:c.T166C:p.L56L,TSPAN4:NM_001025234:exon4:c.T166C:p.L56L,TSPAN4:NM_001025235:exon4:c.T166C:p.L56L,TSPAN4:NM_001025236:exon4:c.T166C:p.L56L,TSPAN4:NM_001025237:exon4:c.T166C:p.L56L,TSPAN4:NM_003271:exon4:c.T166C:p.L56L 0.99 0.97 1. 1. 1. 1. 0.9976 0.9731 0.9992 1 1 1.0000 1 0.9999 0.99 0.98 1. 0.99 0.98 rs28505621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9981 0.9723 0.9993 1 1 1 1.0000 0.9996 0.9999 0.9929 0.9748 1 1 1 1 0.9999 1 hom 2177.79 67 11 862652 . T C 2177.79 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.50;VQSLOD=13.0453;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2211,172,0 11 870446 870446 G A exonic CHID1 nonsynonymous SNV CHID1:NM_001142677:exon10:c.C920T:p.A307V,CHID1:NM_001142675:exon11:c.C1013T:p.A338V,CHID1:NM_023947:exon11:c.C1013T:p.A338V,CHID1:NM_001142674:exon12:c.C1013T:p.A338V,CHID1:NM_001142676:exon12:c.C1088T:p.A363V 0.57 0.41 0.41 0.76 0.49 0.79 0.5466 0.4634 0.4455 0.7509 0.4593 0.5049 0.5428 0.7506 0.48 0.43 0.5 0.49 0.4 rs6682 COSM3765607;COSM3765608 1(liver) . . . . . . . . . . . 0.498 0.078 T 0.661 0.390 P 0.363 0.415 B 0.027 0.258 N 0.018 0.404 P 1.895 0.505 L 1.41 0.334 T -1.1 0.285 N 0.28 0.363 -1.006 0.280 T 0.000 0.000 T . . . 2.684 0.384 20.7 0.995 0.697 0.308 0.239 N c -0.118 -0.084 1.000 0.408 0.744 0.983 0 3.99 0.454 0.826 0.269 0.949 0.536 0.002 0.151 0.686 0.306 11.920 0.519 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain;Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase\x2c catalytic domain ENSG00000177700.5|ENSG00000177830.13|ENSG00000177700.5|ENSG00000177697.13|ENSG00000177700.5|ENSG00000177830.13|ENSG00000177697.13|ENSG00000177697.13|ENSG00000177697.13|ENSG00000177830.13|ENSG00000177830.13|ENSG00000177700.5|ENSG00000177700.5|ENSG00000177830.13|ENSG00000177697.13|ENSG00000177697.13|ENSG00000177236.3|ENSG00000177697.13|ENSG00000177700.5|ENSG00000177697.13 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pituitary|Prostate|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood 0.5277 0.4447 0.4251 0.5786 0.7508 0.4316 0.4907 0.5043 0.7446 0.4800 0.4525 0.4294 0.5533 0.7392 0.4298 0.4812 0.4753 hom 1080.28 40 11 870446 . G A 1080.28 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.88;MQ0=0;QD=27.01;VQSLOD=7.9083;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:87.27:1113,87,0 11 870467 870467 C T exonic CHID1 nonsynonymous SNV CHID1:NM_001142677:exon10:c.G899A:p.R300Q,CHID1:NM_001142675:exon11:c.G992A:p.R331Q,CHID1:NM_023947:exon11:c.G992A:p.R331Q,CHID1:NM_001142674:exon12:c.G992A:p.R331Q,CHID1:NM_001142676:exon12:c.G1067A:p.R356Q 0.03 0.0015 0.048 . 0.093 0.019 0.0587 0.0142 0.0355 0.0003 0.0691 0.0841 0.0754 0.0262 0.062 0.014 0.086 0.043 0.11 rs1127800 . . . . . . . . . . . . . 0.115 0.285 T 0.188 0.276 B 0.013 0.154 B 0.001 0.408 N 1.000 0.186 N 0.755 0.192 N 0.96 0.429 T -1.26 0.318 N 0.412 0.471 -1.087 0.061 T 0.002 0.008 T . . . 2.716 0.388 20.9 0.973 0.326 0.026 0.070 N c -0.787 -0.814 0.426 0.203 0.744 0.983 0 0.875 0.182 -0.086 0.111 0.848 0.348 0.001 0.137 0.694 0.308 5.408 0.155 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain;Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase\x2c catalytic domain ENSG00000250397.2|ENSG00000177700.5|ENSG00000177697.13|ENSG00000177697.13|ENSG00000177697.13 Artery_Tibial|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Thyroid 0.0544 0.0119 0.0361 0.0935 0.0002 0.0633 0.0769 0.0670 0.0238 0.0516 0.0140 0.0453 0.1126 0 0.0659 0.0737 0.0697 hom 1075.22 40 11 870467 . C T 1075.22 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;QD=26.88;VQSLOD=7.9990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,39:40:81.26:1108,81,0 11 903070 903070 G C exonic CHID1 synonymous SNV CHID1:NM_001142675:exon3:c.C153G:p.V51V,CHID1:NM_001142677:exon3:c.C153G:p.V51V,CHID1:NM_023947:exon3:c.C153G:p.V51V,CHID1:NM_001142674:exon4:c.C153G:p.V51V,CHID1:NM_001142676:exon4:c.C228G:p.V76V 0.99 0.97 1. 1. 1. 1. 0.9975 0.9714 0.9991 1 1 1.0000 1 1 0.99 0.97 1. 0.99 1. rs28380110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9704 0.9993 1 1 1 1.0000 0.9995 0.9999 0.9924 0.9734 1 1 1 1 0.9999 1 hom 1789.63 60 11 903070 . G C 1789.63 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=29.83;VQSLOD=8.2443;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1823,138,0 11 985547 985547 C T exonic AP2A2 synonymous SNV AP2A2:NM_001242837:exon8:c.C930T:p.L310L,AP2A2:NM_012305:exon8:c.C927T:p.L309L 0.46 0.36 0.71 0.28 0.66 0.39 0.5636 0.3777 0.7164 0.2864 0.6231 0.6308 0.5791 0.4158 0.55 0.38 0.64 0.51 . rs10794358 COSM3752831 1(breast);1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5725 0.3701 0.7167 0.5977 0.2848 0.6115 0.6319 0.6251 0.4157 0.5390 0.3816 0.7098 0.6093 0.2707 0.6078 0.6280 0.6061 hom 2785.53 84 11 985547 . C T 2785.53 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5465;MQ=58.83;MQ0=0;QD=33.16;VQSLOD=8.7026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2819,226,0 11 1018089 1018089 G - exonic MUC6 frameshift deletion MUC6:NM_005961:exon31:c.4712delC:p.P1571Hfs*20 . . . . . . 8.279e-06 0.0001 0 0 0 0 0 0 . . . . . rs368342230 COSM1350286;COSM1350287 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.16e-06 0 3.08e-05 0 0 0 0 0 0 3.371e-05 0 0 0 0 0 7.036e-05 0 het 544.84 180 11 1018088 . TG T 544.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.574;DP=180;DS;FS=49.327;HRun=3;HaplotypeScore=1626.3210;MQ=40.53;MQ0=6;MQRankSum=-6.293;QD=2.21;ReadPosRankSum=1.842;set=variant2 GT:AD:DP:GQ:PL 0/1:188,59:180:99:584,0,5823 11 1018093 1018093 - T exonic MUC6 frameshift insertion MUC6:NM_005961:exon31:c.4707dupA:p.P1570Tfs*135 . . . . . . 8.44e-06 0.0001 0 0 0 0 0 0 . . . . . rs376177791 COSM1350289;COSM1350288 1(bone);1(kidney);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.827e-06 0 5.737e-05 0 0 0 0 0 0 3.783e-05 0 0 0 0 0 7.836e-05 0 het 647.19 186 11 1018093 . G GT 647.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.268;DP=186;DS;FS=52.174;HRun=1;HaplotypeScore=1680.1075;MQ=41.69;MQ0=4;MQRankSum=-6.998;QD=2.60;ReadPosRankSum=0.880;set=variant2 GT:AD:DP:GQ:PL 0/1:191,58:186:99:686,0,5175 11 1019375 1019375 C T exonic MUC6 synonymous SNV MUC6:NM_005961:exon30:c.G3930A:p.A1310A 0.92 0.98 0.89 0.88 0.93 0.92 0.9156 0.9682 0.8491 0.8680 0.9140 0.9268 0.9154 0.9112 0.94 0.97 0.93 0.91 . rs9704308 COSM4145181;COSM4145182 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9141 0.9706 0.8597 0.9716 0.8692 0.9086 0.9255 0.9252 0.9125 0.9312 0.9741 0.8911 0.9735 0.8567 0.9089 0.9219 0.9139 hom 2659.37 89 11 1019375 . C T 2659.37 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6175;MQ=58.00;MQ0=0;QD=29.88;VQSLOD=7.4446;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2692,229,0 11 1026084 1026084 G A exonic MUC6 synonymous SNV MUC6:NM_005961:exon21:c.C2604T:p.C868C 0.062 0.12 0.059 0.001 0.087 0.019 0.0943 0.1371 0.0652 0.0003 0.1323 0.1169 0.0742 0.0378 0.081 0.099 0.072 0.098 . rs12801568 COSM3752098;COSM3752097 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0646 0.1108 0.0408 0.0839 0.0002 0.0791 0.0807 0.0705 0.0323 0.0838 0.1127 0.0465 0.0960 0 0.0853 0.0787 0.0663 het 220.70 15 11 1026084 . G A 220.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.647;DP=15;Dels=0.00;FS=6.368;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=14.71;ReadPosRankSum=-1.401;VQSLOD=4.8690;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,11:15:87.06:251,0,87 11 1027811 1027811 C T exonic MUC6 nonsynonymous SNV MUC6:NM_005961:exon16:c.G1855A:p.V619M 0.4 0.26 0.65 0.3 0.57 0.32 0.5057 0.3111 0.6840 0.3234 0.5678 0.5532 0.5379 0.3636 0.46 0.29 0.55 0.41 . rs7481521 COSM428298;COSM428299 1(oesophagus);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.222 0.188 T 0.99 0.615 D 0.772 0.551 P 0.015 0.282 U 0.213 0.343 P 2.165 0.608 M -1.24 0.790 T -0.25 0.110 N 0.172 0.208 -0.877 0.500 T 0.000 0.000 T . . . 1.698 0.265 14.39 0.598 0.062 0.479 0.278 N c -0.165 -0.315 0.465 0.206 0.421 0.056 0 1.73 0.235 0.469 0.216 0.892 0.403 0.972 0.342 0.945 0.419 7.790 0.281 Uncharacterised domain\x2c cysteine-rich . . 0.5012 0.2805 0.6752 0.4833 0.3062 0.5371 0.5447 0.5527 0.3445 0.4637 0.2969 0.6599 0.4801 0.2933 0.5267 0.5480 0.5449 het 195.76 21 11 1027811 . C T 195.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.035;DP=21;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=0.9947;MQ=60.00;MQ0=0;MQRankSum=0.951;QD=9.32;ReadPosRankSum=-1.514;VQSLOD=5.8917;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,10:21:99:226,0,289 11 1080576 1080576 G A exonic MUC2 synonymous SNV MUC2:NM_002457:exon9:c.G1218A:p.T406T 0.27 0.26 0.28 0.34 0.098 0.36 0.1841 0.2791 0.3434 0.3653 0.1025 0.0914 0.1782 0.3196 0.14 0.24 0.087 0.23 . rs41349846 COSM5967736;COSM5967737 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1797 0.2710 0.3202 0.0882 0.3594 0.0842 0.0872 0.1499 0.3064 0.1600 0.2772 0.2859 0.0894 0.3657 0.0959 0.0791 0.1551 het 485 48 11 1080576 . G A 485 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.672;DP=48;Dels=0.00;FS=2.577;HRun=0;HaplotypeScore=1.5616;MQ=58.24;MQ0=0;MQRankSum=1.355;QD=10.10;ReadPosRankSum=-2.266;VQSLOD=4.4208;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,22:48:99:515,0,579 11 1081074 1081074 T C exonic MUC2 nonsynonymous SNV MUC2:NM_002457:exon11:c.T1370C:p.V457A 0.36 0.42 0.37 0.37 0.22 0.42 0.2765 0.4088 0.4080 0.4022 0.2311 0.1973 0.2766 0.3742 0.26 0.39 0.21 0.27 . rs41411848 COSM3998203;COSM3998202 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2793 0.4131 0.3954 0.1780 0.4044 0.2355 0.1997 0.2582 0.3718 0.2812 0.4163 0.3878 0.1821 0.4183 0.2428 0.1925 0.2819 het 532.40 40 11 1081074 . T C 532.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.239;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.43;MQ0=0;MQRankSum=-1.733;QD=13.31;ReadPosRankSum=-0.408;VQSLOD=4.8800;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,22:40:99:562,0,445 11 1081112 1081112 G C exonic MUC2 nonsynonymous SNV MUC2:NM_002457:exon11:c.G1408C:p.E470Q 0.36 0.42 0.36 0.38 0.22 0.42 0.2740 0.4080 0.4040 0.4034 0.2308 0.1943 0.2698 0.3715 0.26 0.39 0.2 0.32 . rs41345745 COSM3998205;COSM3998204 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2762 0.4122 0.3924 0.1530 0.4047 0.2346 0.1971 0.2510 0.3691 0.2801 0.4164 0.3819 0.1656 0.4184 0.2425 0.1914 0.2773 het 549.18 44 11 1081112 . G C 549.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.595;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;MQRankSum=0.940;QD=12.48;ReadPosRankSum=0.775;VQSLOD=6.2804;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,23:44:99:579,0,521 11 1081757 1081757 G C exonic MUC2 nonsynonymous SNV MUC2:NM_002457:exon13:c.G1685C:p.S562T 0.37 0.43 0.37 0.39 0.22 0.42 0.2794 0.4206 0.4089 0.4124 0.2340 0.1990 0.2752 0.3740 0.27 0.39 0.2 0.35 . rs57737240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2798 0.4235 0.3939 0.1638 0.4111 0.2360 0.2007 0.2549 0.3693 0.2838 0.4281 0.3780 0.1689 0.4233 0.2424 0.1917 0.2811 het 591.87 51 11 1081757 . G C 591.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.915;DP=51;Dels=0.00;FS=6.004;HRun=1;HaplotypeScore=0.8941;MQ=57.84;MQ0=0;MQRankSum=1.085;QD=11.61;ReadPosRankSum=-0.293;VQSLOD=4.6476;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,24:51:99:622,0,679 11 1082353 1082353 C T exonic MUC2 nonsynonymous SNV MUC2:NM_002457:exon14:c.C1808T:p.S603L 0.0002 0.0008 . . . . 4.077e-05 0.0004 0 0 0 0 0 9.132e-05 . . . . . rs575230381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.56e-05 0.0001 0 0 5.969e-05 0 1.883e-05 0 3.429e-05 6.472e-05 0.0001 0 0 0.0006 0 0 0 het 218.02 26 11 1082353 . C T 218.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.247;DP=26;Dels=0.00;FS=1.685;HRun=1;HaplotypeScore=1.9975;MQ=58.55;MQ0=0;MQRankSum=-0.083;QD=8.39;ReadPosRankSum=-0.471;VQSLOD=4.1260;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,11:26:99:248,0,382 11 1083293 1083293 T C exonic MUC2 synonymous SNV MUC2:NM_002457:exon16:c.T2193C:p.D731D 0.37 0.44 0.37 0.39 0.22 0.42 0.2804 0.4419 0.4104 0.4132 0.2363 0.1966 0.2731 0.3750 0.27 0.41 0.2 0.29 . rs7394853 COSM428367;COSM428368 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2800 0.4415 0.3943 0.1541 0.4126 0.2351 0.1984 0.2531 0.3693 0.2880 0.4431 0.3828 0.1656 0.4267 0.2426 0.1908 0.2797 het 532.62 36 11 1083293 . T C 532.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.437;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3526;MQ=59.36;MQ0=0;MQRankSum=1.844;QD=14.80;ReadPosRankSum=-0.790;VQSLOD=5.0934;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,23:36:99:563,0,326 11 1084821 1084821 T C exonic MUC2 synonymous SNV MUC2:NM_002457:exon20:c.T2616C:p.D872D 0.34 0.43 0.36 0.39 0.22 0.27 0.3343 0.4669 0.5046 0.4727 0.3420 0.2638 0.3289 0.3184 0.27 0.4 0.2 0.36 . rs10794288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2634 0.4208 0.3896 0.1542 0.4091 0.2334 0.1969 0.2470 0.2679 0.2828 0.4274 0.3816 0.1667 0.4251 0.2425 0.1905 0.2689 het 453.65 30 11 1084821 . T C 453.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.901;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.25;MQ0=0;MQRankSum=0.815;QD=15.12;ReadPosRankSum=2.489;VQSLOD=4.9213;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,21:30:99:484,0,213 11 1087972 1087972 C T exonic MUC2 synonymous SNV MUC2:NM_002457:exon25:c.C3447T:p.N1149N 0.33 0.38 0.36 0.39 0.22 0.29 0.2635 0.3710 0.4161 0.4185 0.2417 0.1989 0.2701 0.2815 0.25 0.34 0.2 0.33 . rs10902088 COSM4145220;COSM4145219 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2596 0.3624 0.3887 0.1521 0.4118 0.2338 0.1963 0.2472 0.2684 0.2638 0.3664 0.3711 0.1490 0.4178 0.2391 0.1894 0.2648 het 371.14 43 11 1087972 . C T 371.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.354;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.58;MQ0=0;MQRankSum=1.127;QD=8.63;ReadPosRankSum=-0.479;VQSLOD=6.3488;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,17:43:99:401,0,665 11 1093710 1093710 C G exonic MUC2 synonymous SNV MUC2:NM_002457:exon31:c.C5529G:p.P1843P 0.9 0.98 0.85 0.99 0.81 0.8 0.8260 0.9585 0.8073 0.9943 0.8004 0.7954 0.8318 0.8060 0.86 0.96 0.81 0.54 . rs7944723 COSM3752131 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8269 0.9636 0.8111 0.7980 0.9953 0.8062 0.8003 0.8279 0.8023 0.8629 0.9600 0.7950 0.7550 0.9969 0.8103 0.8112 0.8476 hom 7506.63 249 11 1093710 . C G 7506.63 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4909;MQ=59.13;MQ0=0;QD=30.15;VQSLOD=7.7716;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7504,668,0 11 1094690 1094690 C T exonic MUC2 synonymous SNV MUC2:NM_002457:exon32:c.C5778T:p.T1926T 0.75 0.85 0.74 0.93 0.51 0.71 0.5992 0.7951 0.7011 0.9245 0.4536 0.4972 0.6089 0.7118 0.6 0.79 0.5 0.78 . rs10794291 COSM3752132 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6004 0.7953 0.6936 0.6126 0.9258 0.4543 0.4953 0.5723 0.6992 0.6060 0.7969 0.6591 0.5695 0.9280 0.4661 0.4928 0.5691 hom 3733.81 102 11 1094690 . C T 3733.81 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4993;MQ=59.32;MQ0=0;QD=36.61;VQSLOD=8.3109;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:102:99:3711,292,0 11 1094753 1094753 A C exonic MUC2 synonymous SNV MUC2:NM_002457:exon32:c.A5841C:p.P1947P 0.83 0.94 0.78 0.99 0.6 0.78 0.6707 0.8849 0.7352 0.9932 0.5606 0.5748 0.6831 0.7581 0.68 0.87 0.58 0.84 . rs10794292 COSM3752133 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6728 0.8887 0.7301 0.6565 0.9947 0.5664 0.5772 0.6523 0.7541 0.6919 0.8825 0.7043 0.6074 0.9969 0.5741 0.5784 0.6547 hom 8035.24 245 11 1094753 . A C 8035.24 Mask AC=2;AF=1.00;AN=2;DP=245;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.7370;MQ=59.51;MQ0=0;QD=32.80;VQSLOD=8.1819;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:8034,626,0 11 1096494 1096494 T C exonic MUC2 synonymous SNV MUC2:NM_002457:exon35:c.T6519C:p.C2173C . . . . . . 0.6719 0.8863 0.7370 0.9927 0.5607 0.5755 0.6840 0.7603 0.68 0.88 0.59 0.84 . rs6421972 COSM3752134 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6736 0.8898 0.7318 0.6578 0.9944 0.5664 0.5777 0.6532 0.7563 0.6926 0.8848 0.7069 0.6067 0.9981 0.5753 0.5779 0.6564 hom 2968.69 89 11 1096494 . T C 2968.69 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.0756;MQ=59.01;MQ0=0;QD=33.36;VQSLOD=8.9935;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:89:99:3002,235,0 11 1101649 1101649 T C exonic MUC2 synonymous SNV MUC2:NM_002457:exon43:c.T7662C:p.P2554P 0.7 0.68 0.62 0.99 0.52 0.65 0.5819 0.6258 0.6565 0.9917 0.5523 0.5023 0.5507 0.6213 0.55 0.62 0.52 0.69 . rs7480563 COSM428399 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5833 0.6253 0.6552 0.4122 0.9939 0.5542 0.5043 0.5514 0.6216 0.5754 0.6178 0.6172 0.3642 0.9957 0.5490 0.5130 0.5811 het 1578.44 132 11 1101649 . T C 1578.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.939;DP=132;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.3632;MQ=59.00;MQ0=0;MQRankSum=1.742;QD=11.96;ReadPosRankSum=-0.496;VQSLOD=6.1432;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,62:132:99:1608,0,1867 11 1151695 1151695 C T exonic MUC5AC unknown UNKNOWN 0.39 0.61 0.35 0.32 0.19 0.39 0.2978 0.5914 0.3815 0.3120 0.2369 0.2270 0.3052 0.3610 0.29 0.53 0.18 0.32 . rs28737416 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2555 0.5746 0.3327 0.2168 0.2800 0.1685 0.1878 0.2348 0.3292 0.3123 0.5755 0.3091 0.1722 0.2840 0.1789 0.1993 0.2694 hom 322.16 11 11 1151695 . C T 322.16 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.26;MQ0=0;QD=29.29;VQSLOD=7.7931;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:355,30,0 11 1158073 1158073 T C exonic MUC5AC unknown UNKNOWN 0.89 0.84 0.9 1. 0.8 0.94 0.8547 0.8394 0.9254 0.9963 0.7856 0.8110 0.8587 0.9320 0.8 0.83 0.79 0.89 . rs28691231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8552 0.8376 0.9135 0.9268 0.9970 0.7785 0.8037 0.8435 0.9316 0.8227 0.8312 0.8854 0.8874 0.9963 0.7775 0.8039 0.8354 hom 703.11 25 11 1158073 . T C 703.11 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.98;MQ0=0;QD=28.12;VQSLOD=7.5426;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:60.17:736,60,0 11 1158092 1158092 C G exonic MUC5AC unknown UNKNOWN 0.0076 0.0015 0.014 . 0.026 . 0.0160 0.0039 0.0086 0 0.0351 0.0227 0.0310 0.0016 0.012 0.004 0.016 0.011 . rs55863018 . . . . . . . . . . . . . . . . 0.463 0.346 P 0.189 0.346 B . . . . . . . . . . . . . . . 0.138 0.160 -0.884 0.495 T 0.057 0.238 T . . . 1.568 0.250 13.68 0.983 0.398 0.972 0.734 D c -0.195 -0.157 1.000 0.436 0.487 0.133 0 2.68 0.307 2.767 0.471 -0.012 0.132 0.803 0.295 0.420 0.257 13.788 0.625 Trypsin Inhibitor-like\x2c cysteine rich domain . . 0.0154 0.0028 0.0089 0.0443 0 0.0297 0.0198 0.0191 0.0015 0.0180 0.0026 0.0107 0.0331 0 0.0309 0.0252 0.0286 het 307.47 19 11 1158092 . C G 307.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.886;DP=19;Dels=0.00;FS=1.808;HRun=0;HaplotypeScore=1.9916;MQ=56.30;MQ0=0;MQRankSum=1.272;QD=16.18;ReadPosRankSum=0.658;VQSLOD=2.5285;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,13:19:99:337,0,153 11 1161315 1161315 T C exonic MUC5AC unknown UNKNOWN 0.98 1. 0.97 1. 0.96 0.96 0.9479 0.9970 0.9424 0.9982 0.9592 0.9305 0.9619 0.9489 0.97 0.99 0.96 0.98 . rs28403537 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9585 0.9939 0.9719 0.8957 0.9999 0.9589 0.9563 0.9510 0.9442 0.9710 0.9937 0.9701 0.8709 1 0.9574 0.9602 0.9673 hom 265.06 11 11 1161315 . T C 265.06 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=24.10;VQSLOD=12.3489;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:24.07:298,24,0 11 1215580 1215580 A G exonic MUC5AC unknown UNKNOWN 0.49 0.7 0.44 0.35 0.41 0.47 0.4640 0.6747 0.5054 0.3875 0.5045 0.4546 0.4608 0.4258 0.47 0.65 0.39 0.47 . rs1132433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4111 0.6637 0.4252 0.3106 0.3086 0.4485 0.4006 0.4121 0.4126 0.4839 0.6639 0.4258 0.29 0.3082 0.4564 0.4138 0.4569 hom 408.22 13 11 1215580 . A G 408.22 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=31.40;VQSLOD=8.6498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:39.10:441,39,0 11 1216316 1216316 - C exonic MUC5AC unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9999 1 0.9996 0.9995 1 0.9999 1 1 1. 0.99 1. . . rs58550179 COSN20122422 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9991 0.9999 0.9998 1 1 0.9998 1 0.9999 1.0000 0.9999 1 1 1 1 1 1 hom 928.89 25 11 1216316 . G GC 928.89 Mask AC=2;AF=1.00;AN=2;DP=25;FS=0.000;HRun=1;HaplotypeScore=143.3056;MQ=39.04;MQ0=0;QD=37.16;set=variant2 GT:AD:DP:GQ:PL 1/1:8,17:25:66.22:971,66,0 11 1216334 1216334 A - exonic MUC5AC unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9997 1 0.9998 0.9987 1 0.9998 1 0.9999 1. 1. 1. 0.99 . rs60138698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 0.9996 1 1 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 1258.39 33 11 1216333 . TA T 1258.39 Mask AC=2;AF=1.00;AN=2;DP=33;FS=0.000;HRun=1;HaplotypeScore=144.3446;MQ=45.74;MQ0=0;QD=38.13;set=variant2 GT:AD:DP:GQ:PL 1/1:0,33:33:93.31:1300,93,0 11 1217228 1217228 T C exonic MUC5AC unknown UNKNOWN 0.64 0.92 0.66 0.35 0.63 0.56 0.6118 0.8716 0.6534 0.3052 0.6439 0.6270 0.5737 0.5415 0.72 0.88 0.65 0.59 . rs28592983 COSN15316006 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6109 0.8758 0.6608 0.5107 0.3085 0.6475 0.6354 0.6117 0.5381 0.7016 0.8789 0.6651 0.4967 0.3109 0.6544 0.6606 0.6602 hom 1436.93 51 11 1217228 . T C 1436.93 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9965;MQ=60.00;MQ0=0;QD=28.18;VQSLOD=6.8299;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1470,120,0 11 1218128 1218128 G A exonic MUC5AC unknown UNKNOWN 0.48 0.6 0.44 0.35 0.4 0.55 0.4345 0.5782 0.4407 0.3216 0.4814 0.4096 0.4262 0.4953 0.45 0.56 0.41 0.43 . rs28503875 COSN6607410;COSN6607409;COSN19621654 1(haematopoietic_and_lymphoid_tissue);2(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4169 0.5630 0.4214 0.3076 0.3115 0.4548 0.4012 0.4111 0.4810 0.4541 0.5589 0.4151 0.2881 0.3080 0.4562 0.4137 0.4580 hom 536.53 18 11 1218128 . G A 536.53 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=58.96;MQ0=0;QD=29.81;VQSLOD=8.6607;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:570,45,0 11 1220599 1220599 T C exonic MUC5AC unknown UNKNOWN 0.51 0.7 0.45 0.35 0.41 0.55 0.5036 0.6864 0.5603 0.4688 0.5621 0.4932 0.5 0.4717 0.47 0.64 0.4 0.49 . rs28633254 COSN24322954 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4178 0.6565 0.4221 0.3147 0.3043 0.4451 0.3980 0.4136 0.4740 0.4815 0.6549 0.4234 0.2947 0.3074 0.4564 0.4135 0.4662 hom 514.37 17 11 1220599 . T C 514.37 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56.62;MQ0=0;QD=30.26;VQSLOD=8.4470;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:45.13:547,45,0 11 1246941 1246941 A G exonic MUC5B nonsynonymous SNV MUC5B:NM_002458:exon2:c.A101G:p.E34G 0.33 0.34 0.28 0.44 0.24 0.32 0.3251 0.3870 0.3164 0.4885 0.4655 0.2797 0.3131 0.3331 0.23 0.3 0.2 0.29 . rs2672785 . . Benign not_specified RCV000151032.1 MedGen CN169374 . . . . . . 0.385 0.110 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 2.1 0.200 T -0.15 0.093 N 0.036 0.030 -0.913 0.466 T 0.000 0.000 T . . . 0.120 0.105 3.820 0.710 0.092 0.002 0.012 N c -1.320 -1.350 0.090 0.161 0.487 0.133 0 0.033 0.134 -0.379 0.074 -0.731 0.036 0.000 0.063 0.000 0.016 0.516 0.006 . ENSG00000255153.1|ENSG00000255153.1 Artery_Tibial|Skin_Sun_Exposed_Lower_leg 0.2631 0.3324 0.2300 0.2526 0.4246 0.3596 0.2132 0.2502 0.2939 0.2813 0.3299 0.2350 0.2450 0.4158 0.3625 0.2218 0.2938 hom 347.18 10 11 1246941 . A G 347.18 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.72;VQSLOD=14.3356;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:380,30,0 11 1252708 1252708 G C exonic MUC5B synonymous SNV MUC5B:NM_002458:exon14:c.G1596C:p.L532L 0.57 0.57 0.61 0.65 0.5 0.52 0.5448 0.5844 0.6250 0.6575 0.5879 0.5157 0.5519 0.5076 0.53 0.58 0.5 0.51 . rs2735709 COSM4145459;COSM4145458 2(thyroid);1(biliary_tract) Benign not_specified RCV000151037.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5439 0.5740 0.6231 0.5480 0.6604 0.5757 0.5042 0.5310 0.4994 0.5502 0.5791 0.6205 0.5433 0.6590 0.5782 0.5104 0.5629 hom 921.69 32 11 1252708 . G C 921.69 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.80;VQSLOD=13.4390;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.22:955,81,0 11 1253942 1253942 T C exonic MUC5B synonymous SNV MUC5B:NM_002458:exon17:c.T2007C:p.Y669Y 0.54 0.48 0.61 0.65 0.5 0.52 0.6440 0.6184 0.6963 0.7178 0.6684 0.6307 0.6425 0.6277 0.61 0.6 0.61 0.54 . rs908229 COSM3722636;COSM3722637 2(thyroid);1(upper_aerodigestive_tract) Benign not_specified RCV000151039.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6296 0.5770 0.6728 0.6418 0.6975 0.6654 0.6109 0.6140 0.6066 0.6185 0.6183 0.6758 0.5906 0.7176 0.6680 0.5918 0.6465 hom 528.21 17 11 1253942 . T C 528.21 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.80;MQ0=0;QD=31.07;VQSLOD=7.1561;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.13:561,48,0 11 1258286 1258286 C T exonic MUC5B synonymous SNV MUC5B:NM_002458:exon25:c.C3189T:p.D1063D . . . . . . 0.4865 0.4852 0.4888 0.4856 0.4859 0.4880 0.4810 0.4806 . . . . . rs77996005 COSM1352038;COSM1352039 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(oesophagus);5(thyroid);1(upper_aerodigestive_tract);3(large_intestine);5(central_nervous_system) Benign not_specified RCV000455784.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3420 0.2621 0.2872 0.3868 0.2153 0.4318 0.3622 0.3181 0.3677 0.4118 0.4938 0.4867 0.1875 0.4981 0.4997 0.3298 0.4597 het 205.29 36 11 1258286 . C T 205.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.131;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=56.97;MQ0=0;MQRankSum=0.386;QD=5.70;ReadPosRankSum=0.923;VQSLOD=4.5435;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,12:36:99:235,0,595 11 1262189 1262189 C T exonic MUC5B nonsynonymous SNV MUC5B:NM_002458:exon31:c.C4079T:p.T1360M 0.006 0.0015 0.013 . 0.018 0.001 0.0112 0.0020 0.0101 0 0.0208 0.0152 0.0260 0.0025 0.011 0.0017 0.015 . . rs12363494 . . . . . . . . . . . . . 0.023 0.481 D 1.0 0.899 D 0.987 0.797 D . . . 0.588 0.310 N 2.47 0.719 M 2.02 0.211 T -5.47 0.856 D 0.129 0.250 -0.708 0.601 T 0.090 0.345 T . . . 1.007 0.190 10.70 0.735 0.100 0.277 0.231 N c -0.286 -0.553 0.003 0.096 0.554 0.246 0 2.87 0.324 1.556 0.357 -0.033 0.126 0.024 0.198 0.001 0.043 12.674 0.561 WxxW domain . . 0.0119 0.0020 0.0099 0.0311 0 0.0207 0.0147 0.0144 0.0027 0.0117 0.0014 0.0119 0.0397 0 0.0203 0.0161 0.0163 het 471.68 34 11 1262189 . C T 471.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.707;DP=34;Dels=0.00;FS=1.376;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=-1.190;QD=13.87;ReadPosRankSum=1.294;VQSLOD=5.9327;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,18:34:99:502,0,403 11 1262907 1262907 T C exonic MUC5B synonymous SNV MUC5B:NM_002458:exon31:c.T4797C:p.S1599S 0.2 0.27 0.27 0.061 0.21 0.22 0.2194 0.2930 0.3259 0.0658 0.3106 0.1997 0.2577 0.2255 0.21 0.26 0.19 0.2 . rs2037089 COSM4145488;COSM4145489 1(thyroid) Benign not_specified RCV000177537.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2213 0.2888 0.3139 0.2442 0.0613 0.2944 0.1924 0.2198 0.2213 0.2316 0.2746 0.3170 0.2152 0.0538 0.2947 0.2046 0.2598 hom 863.25 29 11 1262907 . T C 863.25 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;QD=29.77;VQSLOD=8.4942;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:72.21:896,72,0 11 1263523 1263523 G A exonic MUC5B nonsynonymous SNV MUC5B:NM_002458:exon31:c.G5413A:p.G1805S 0.066 0.023 0.11 0.05 0.082 0.091 0.0801 0.0215 0.1328 0.0524 0.1334 0.0745 0.0949 0.0933 0.054 0.017 0.072 0.011 . rs1541314 COSM3998320;COSM3998319 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.185 0.215 T 0.817 0.469 P 0.426 0.507 B . . . 1 0.090 P 1.69 0.435 L 2.28 0.173 T -4.22 0.758 D 0.034 0.064 -1.077 0.078 T 0.002 0.007 T . . . 0.978 0.188 10.54 0.849 0.151 0.068 0.127 N c -0.393 -0.574 0.000 0.029 0.554 0.246 0 1.15 0.198 0.378 0.202 0.900 0.413 0.000 0.063 0.009 0.108 7.167 0.247 WxxW domain . . 0.0851 0.0215 0.1310 0.0902 0.0509 0.1258 0.0749 0.0851 0.0916 0.0699 0.0206 0.1277 0.0927 0.0397 0.1299 0.0818 0.1066 het 837.38 84 11 1263523 . G A 837.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.730;DP=84;Dels=0.00;FS=5.863;HRun=1;HaplotypeScore=5.5328;MQ=58.83;MQ0=0;MQRankSum=0.098;QD=9.97;ReadPosRankSum=0.014;VQSLOD=4.7951;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,34:84:99:867,0,1493 11 1263776 1263776 C T exonic MUC5B nonsynonymous SNV MUC5B:NM_002458:exon31:c.C5666T:p.P1889L 0.12 0.1 0.21 0.053 0.13 0.13 0.1420 0.0999 0.2925 0.0533 0.2210 0.1253 0.1678 0.1427 0.12 0.096 0.12 0.12 . rs2943510 . . Benign not_specified RCV000455944.1 MedGen CN169374 . . . . . . 0.119 0.280 T 0.144 0.295 B 0.022 0.184 B . . . 1 0.090 P 0.695 0.181 N 2.15 0.193 T -0.64 0.187 N 0.019 0.022 -1.018 0.244 T 0.000 0.000 T . . . 0.782 0.169 9.354 0.827 0.138 0.094 0.150 N c -0.882 -0.917 0.026 0.137 0.554 0.246 0 2.72 0.310 -0.085 0.111 -0.683 0.039 0.000 0.063 0.000 0.016 9.196 0.362 . ENSG00000078902.11 Esophagus_Mucosa 0.1517 0.1048 0.2836 0.1312 0.0520 0.2118 0.1269 0.1507 0.1401 0.1365 0.1039 0.2691 0.11 0.0425 0.2129 0.1382 0.1783 het 3204.20 217 11 1263776 . C T 3204.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.596;DP=217;Dels=0.00;FS=0.572;HRun=0;HaplotypeScore=12.0912;MQ=57.91;MQ0=0;MQRankSum=-0.103;QD=14.77;ReadPosRankSum=0.298;VQSLOD=2.8487;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,113:217:99:3234,0,3103 11 1271219 1271221 CCA - exonic MUC5B nonframeshift deletion MUC5B:NM_002458:exon31:c.13109_13111del:p.T4373del 0.066 0.024 0.11 0.05 0.081 0.091 0.0799 0.0214 0.1320 0.0524 0.1334 0.0742 0.0949 0.0933 0.054 0.021 0.072 . . rs61430934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0848 0.0213 0.1302 0.0899 0.0508 0.1256 0.0745 0.0850 0.0914 0.0693 0.0204 0.1256 0.0927 0.0416 0.1295 0.0807 0.1046 het 2857.76 192 11 1271218 . GCCA G 2857.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.827;DP=192;DS;FS=0.555;HRun=0;HaplotypeScore=801.5132;MQ=39.79;MQ0=11;MQRankSum=-0.179;QD=12.70;ReadPosRankSum=0.425;set=variant2 GT:AD:DP:GQ:PL 0/1:147,78:192:99:2897,0,6501 11 1272709 1272709 G A exonic MUC5B nonsynonymous SNV MUC5B:NM_002458:exon31:c.G14599A:p.A4867T 0.065 0.023 0.11 0.051 0.082 0.091 0.0804 0.0219 0.1329 0.0529 0.1340 0.0746 0.0964 0.0939 0.054 0.018 0.072 0.011 . rs3021155 COSM3749140;COSM3749141 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.437 0.093 T 0.889 0.510 P 0.058 0.293 B . . . 1 0.090 P 1.59 0.404 L 2.32 0.166 T -0.18 0.098 N 0.034 0.014 -0.989 0.328 T 0.001 0.002 T . . . 0.045 0.098 3.029 0.647 0.074 0.009 0.035 N c -1.297 -1.489 0.000 0.072 0.487 0.133 0 -0.459 0.115 -4.309 0.003 -2.204 0.004 0.000 0.063 0.000 0.016 6.261 0.200 . . . 0.0852 0.0216 0.1310 0.0899 0.0509 0.1258 0.0749 0.0856 0.0922 0.0702 0.0207 0.1265 0.0933 0.0415 0.1302 0.0822 0.1060 het 1296.95 118 11 1272709 . G A 1296.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.303;DP=118;Dels=0.00;FS=13.924;HRun=0;HaplotypeScore=3.0271;MQ=59.17;MQ0=0;MQRankSum=0.831;QD=10.99;ReadPosRankSum=-0.556;VQSLOD=3.3768;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,56:118:99:1327,0,1619 11 1272754 1272754 A G exonic MUC5B nonsynonymous SNV MUC5B:NM_002458:exon31:c.A14644G:p.T4882A 0.066 0.023 0.11 0.05 0.083 0.091 0.0809 0.0221 0.1345 0.0526 0.1340 0.0752 0.0993 0.0934 0.054 0.018 0.072 0.011 . rs3021156 . . . . . . . . . . . . . 0.111 0.290 T 0.068 0.323 B 0.048 0.268 B . . . 1.000 0.090 P 1.905 0.510 L 2.16 0.192 T -0.93 0.249 N 0.035 0.065 -1.023 0.227 T 0.001 0.003 T . . . -0.155 0.080 1.357 0.462 0.036 0.048 0.104 N c -1.109 -1.244 0.001 0.072 0.554 0.246 0 -1.72 0.076 -2.337 0.012 -0.051 0.123 0.000 0.063 0.005 0.090 3.926 0.087 . . . 0.0855 0.0218 0.1314 0.0900 0.0509 0.1259 0.0755 0.0860 0.0917 0.0706 0.0207 0.1265 0.09 0.0420 0.1297 0.0828 0.1076 het 1190.04 65 11 1272754 . A G 1190.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.788;DP=65;Dels=0.00;FS=4.256;HRun=0;HaplotypeScore=3.5623;MQ=59.29;MQ0=0;MQRankSum=-2.214;QD=18.31;ReadPosRankSum=0.463;VQSLOD=3.4462;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,41:65:99:1220,0,559 11 1272800 1272800 C T exonic MUC5B nonsynonymous SNV MUC5B:NM_002458:exon31:c.C14690T:p.S4897L 0.029 0.0038 0.035 0.002 0.038 0.077 0.0312 0.0076 0.0170 0.0039 0.0080 0.0329 0.0411 0.0712 0.025 0.0083 0.034 . . rs55693520 . . . . . . . . . . . . . 0.004 0.654 D 0.056 0.214 B 0.002 0.093 B . . . 1 0.090 N 1.83 0.482 L 2.17 0.190 T -1.45 0.356 N 0.054 0.117 -1.032 0.199 T 0.010 0.037 T . . . 1.122 0.202 11.33 0.518 0.046 0.014 0.047 N c -0.968 -1.086 0.000 0.029 0.581 0.326 0 0.628 0.168 -0.715 0.051 -0.018 0.130 0.000 0.063 0.000 0.016 6.947 0.235 . . . 0.0313 0.0068 0.0188 0.0842 0.0034 0.0093 0.0308 0.0365 0.0727 0.0188 0.0064 0.0215 0.0762 0.0049 0.0120 0.0266 0.0356 het 435.32 46 11 1272800 . C T 435.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.229;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4313;MQ=58.99;MQ0=0;MQRankSum=0.933;QD=9.46;ReadPosRankSum=0.114;VQSLOD=5.5395;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,17:46:99:465,0,774 11 1432691 1432691 T C exonic BRSK2 synonymous SNV BRSK2:NM_001256630:exon1:c.T57C:p.C19C 0.28 0.33 0.31 0.028 0.49 0.22 0.4081 0.3779 0.2967 0.0127 0.5479 0.4983 0.4224 0.2386 0.46 0.38 0.49 0.35 . rs61868960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3988 0.3729 0.3087 0.4360 0.0122 0.5385 0.4967 0.4234 0.2477 0.4342 0.3779 0.3138 0.4067 0.0179 0.5413 0.4951 0.4242 het 469.06 41 11 1432691 . T C 469.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.009;DP=41;Dels=0.00;FS=2.700;HRun=2;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=2.130;QD=11.44;ReadPosRankSum=-0.463;VQSLOD=5.2416;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:499,0,709 11 1501670 1501670 G C exonic MOB2 synonymous SNV MOB2:NM_001172223:exon3:c.C318G:p.S106S 0.94 0.99 0.88 1. 0.88 0.91 0.9051 0.9763 0.9108 0.9993 0.8982 0.8840 0.8764 0.8992 0.91 0.98 0.88 0.94 . rs10742185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9059 0.9795 0.9147 0.9264 0.9988 0.9021 0.8811 0.8912 0.8961 0.9178 0.9772 0.9284 0.9139 1 0.9036 0.8784 0.8992 hom 4534.27 155 11 1501670 . G C 4534.27 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2917;MQ=59.28;MQ0=0;QD=29.25;VQSLOD=7.5941;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4533,358,0 11 1857173 1857173 T C exonic SYT8 nonsynonymous SNV SYT8:NM_001290332:exon4:c.T361C:p.C121R,SYT8:NM_001290333:exon4:c.T358C:p.C120R,SYT8:NM_001290334:exon4:c.T355C:p.C119R,SYT8:NM_138567:exon4:c.T358C:p.C120R 0.98 0.94 0.99 1. 1. 1. 0.9957 0.9549 0.9979 1 1 0.9998 0.9945 0.9995 0.98 0.95 1. 1. 0.98 rs564271 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.24 0.001 N 3.3 0.064 T 5.83 0.000 N 0.182 0.598 -0.993 0.319 T 0.000 0.000 T . . . -1.415 0.019 0.003 0.777 0.116 0.004 0.019 N c -1.162 -1.155 1.000 0.480 0.403 0.052 0 -0.072 0.130 -0.031 0.121 -0.013 0.131 0.000 0.063 0.446 0.262 0.677 0.008 C2 domain . . 0.9967 0.9565 0.9976 0.9986 0.9998 1 0.9999 0.9976 0.9994 0.9873 0.9558 0.9964 1 1 1 0.9999 0.9969 hom 1845.28 65 11 1857173 . T C 1845.28 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=28.39;VQSLOD=8.3833;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1878,156,0 11 1857747 1857747 T C exonic SYT8 synonymous SNV SYT8:NM_001290332:exon6:c.T654C:p.R218R,SYT8:NM_001290333:exon6:c.T651C:p.R217R,SYT8:NM_001290334:exon6:c.T648C:p.R216R,SYT8:NM_138567:exon6:c.T651C:p.R217R 0.34 0.24 0.37 0.3 0.39 0.43 0.3906 0.2736 0.4399 0.3126 0.5358 0.3846 0.4085 0.4283 0.34 0.26 0.38 0.22 0.32 rs3741232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3905 0.2596 0.4344 0.2627 0.3124 0.5346 0.3810 0.3745 0.4230 0.3750 0.2609 0.4245 0.2819 0.3090 0.5456 0.4042 0.4309 hom 1076.94 32 11 1857747 . T C 1076.94 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.625;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8768;MQ=58.55;MQ0=0;MQRankSum=0.433;QD=33.65;ReadPosRankSum=1.083;VQSLOD=8.4541;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,31:32:65.62:1110,66,0 11 1857751 1857751 C G exonic SYT8 nonsynonymous SNV SYT8:NM_001290332:exon6:c.C658G:p.P220A,SYT8:NM_001290333:exon6:c.C655G:p.P219A,SYT8:NM_001290334:exon6:c.C652G:p.P218A,SYT8:NM_138567:exon6:c.C655G:p.P219A 0.34 0.24 0.37 0.3 0.39 0.43 0.3886 0.2697 0.4387 0.3112 0.5341 0.3828 0.4037 0.4275 0.34 0.26 0.38 0.23 0.34 rs3741231 COSM4998885 1(pancreas) . . . . . . . . . . . 0.024 0.477 D 0.666 0.391 P 0.162 0.332 B . . . 1.000 0.357 P 2.35 0.677 M 2.99 0.093 T -5.95 0.891 D 0.157 0.439 -0.915 0.462 T 0.000 0.000 T . . . 1.554 0.249 13.60 0.959 0.276 0.160 0.190 N c -0.479 -0.607 1.000 0.747 0.554 0.283 0 2.33 0.279 1.977 0.400 0.807 0.329 0.976 0.346 0.315 0.240 8.09 0.298 C2 domain . . 0.3900 0.2582 0.4344 0.2624 0.3121 0.5346 0.3804 0.3741 0.4228 0.3744 0.2605 0.4231 0.2819 0.3082 0.5456 0.4036 0.4300 hom 1042.55 32 11 1857751 . C G 1042.55 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.516;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9827;MQ=58.55;MQ0=0;MQRankSum=-0.975;QD=32.58;ReadPosRankSum=1.516;VQSLOD=8.0397;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,31:32:64.58:1076,65,0 11 1858572 1858572 C T exonic SYT8 nonsynonymous SNV SYT8:NM_001290332:exon9:c.C1120T:p.R374W,SYT8:NM_001290333:exon9:c.C1117T:p.R373W,SYT8:NM_001290334:exon9:c.C1114T:p.R372W,SYT8:NM_138567:exon9:c.C1117T:p.R373W 0.39 0.17 0.41 0.38 0.5 0.55 0.4903 0.2235 0.5024 0.3996 0.6614 0.4986 0.5170 0.5672 0.39 0.21 0.48 0.28 0.25 rs2292474 COSM3749147 1(thyroid);5(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.810 P -3.735 0.000 N 3.77 0.040 T 12.5 0.000 N 0.068 0.429 -0.948 0.413 T 0.000 0.000 T . . . 1.918 0.291 15.70 0.909 0.195 0.213 0.212 N c -1.318 -1.024 1.000 0.747 0.526 0.212 0 2.68 0.307 4.086 0.571 0.106 0.201 1.000 0.715 0.848 0.354 8.520 0.323 C2 domain . . 0.4783 0.2041 0.4818 0.3658 0.3846 0.6477 0.4941 0.4860 0.5575 0.4353 0.2104 0.4773 0.3543 0.3848 0.6566 0.5129 0.5348 hom 960.55 30 11 1858572 . C T 960.55 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.02;VQSLOD=13.9840;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:84.25:994,84,0 11 1861760 1861760 T C exonic TNNI2 synonymous SNV TNNI2:NM_001145841:exon3:c.T60C:p.S20S 0.83 0.61 0.87 0.99 0.88 0.87 0.8760 0.6686 0.9067 0.9879 0.9336 0.8787 0.8965 0.8822 0.8 0.67 0.87 0.77 0.43 rs907610 COSM4145619 1(thyroid) other|not provided|Likely benign|Likely benign not_specified|not_provided|Arthrogryposis_multiplex_congenita_distal|Arthrogryposis_multiplex_congenita RCV000080081.10|RCV000128669.1|RCV000320562.1|RCV000361293.1 MedGen:Orphanet C2931264:ORPHA1037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8796 0.6535 0.9006 0.8579 0.9881 0.9335 0.8775 0.8807 0.8800 0.8358 0.6619 0.9177 0.8411 0.9852 0.9381 0.8886 0.8921 hom 1400.20 42 11 1861760 . T C 1400.20 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58.89;MQ0=0;QD=33.34;VQSLOD=9.3331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1433,120,0 11 1874404 1874404 C T exonic LSP1 synonymous SNV LSP1:NM_002339:exon1:c.C30T:p.A10A 0.29 0.28 0.28 0.46 0.27 0.17 0.2709 0.2876 0.3239 0.4880 0.3348 0.2426 0.2931 0.2083 0.24 0.26 0.23 0.28 0.12 rs2089910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2572 0.2816 0.2821 0.2301 0.4672 0.2786 0.2292 0.2619 0.1931 0.2684 0.2721 0.3182 0.2417 0.4815 0.2762 0.2400 0.2521 het 63.21 12 11 1874404 . C T 63.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.929;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;MQRankSum=0.000;QD=5.27;ReadPosRankSum=1.134;VQSLOD=4.9383;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,4:12:93.20:93,0,177 11 2016619 2016619 A G exonic HOTS nonsynonymous SNV HOTS:NM_001293171:exon1:c.A193G:p.T65A 0.3 0.083 0.41 0.33 0.5 0.26 0.4208 0.1479 0.3697 0.3198 0.5268 0.5030 0.4533 0.2891 0.4 0.14 0.51 0.25 . rs3741219 COSN19368878;COSN19614730;COSN19369129;COSN19695864 1(haematopoietic_and_lymphoid_tissue);2(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4188 0.1341 0.3696 0.4971 0.3236 0.5212 0.5019 0.4527 0.2917 0.3805 0.1407 0.3628 0.53 0.3176 0.5362 0.4846 0.4448 hom 957.47 30 11 2016619 . A G 957.47 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.23;MQ0=0;QD=31.92;VQSLOD=9.4559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:81.22:990,81,0 11 2016659 2016659 T C exonic HOTS nonsynonymous SNV HOTS:NM_001293171:exon1:c.T233C:p.V78A 0.27 0.079 0.36 0.33 0.4 0.26 0.3381 0.1246 0.3324 0.3209 0.3591 0.3826 0.3603 0.2789 0.31 0.12 0.39 0.32 . rs2839704 COSN19614729 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3395 0.1130 0.3317 0.4128 0.3224 0.3556 0.3814 0.3741 0.2781 0.2926 0.1188 0.3294 0.4470 0.3106 0.3657 0.3664 0.3488 het 340.67 26 11 2016659 . T C 340.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.923;DP=26;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=0.000;QD=13.10;ReadPosRankSum=-0.154;VQSLOD=6.3128;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,13:26:99:371,0,335 11 2016662 2016662 T C exonic HOTS nonsynonymous SNV HOTS:NM_001293171:exon1:c.T236C:p.L79P 0.27 0.079 0.36 0.33 0.4 0.26 0.3378 0.1260 0.3319 0.3204 0.3576 0.3823 0.3604 0.2788 0.31 0.12 0.39 0.3 . rs2839703 COSN16128872;COSN19614728 1(haematopoietic_and_lymphoid_tissue);1(cervix) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3394 0.1136 0.3315 0.4126 0.3225 0.3552 0.3811 0.3742 0.2780 0.2925 0.1188 0.3294 0.4470 0.3110 0.3657 0.3662 0.3488 het 270.78 24 11 2016662 . T C 270.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.800;DP=24;Dels=0.00;FS=1.674;HRun=1;HaplotypeScore=0.9983;MQ=59.03;MQ0=0;MQRankSum=1.126;QD=11.28;ReadPosRankSum=-0.664;VQSLOD=6.3038;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:301,0,353 11 2190951 2190951 C T exonic TH nonsynonymous SNV TH:NM_000360:exon2:c.G241A:p.V81M,TH:NM_199292:exon3:c.G334A:p.V112M,TH:NM_199293:exon3:c.G322A:p.V108M 0.43 0.1 0.39 0.79 0.4 0.56 0.4249 0.1372 0.4550 0.7934 0.4518 0.3790 0.4663 0.5585 0.29 0.14 0.36 0.39 0.42 rs6356 COSM3752294 2(large_intestine) Benign|Benign Segawa_syndrome\x2c_autosomal_recessive|not_specified RCV000021078.2|RCV000241867.1 MedGen:OMIM|MedGen C1854299:605407|CN169374 . . . . . . 0.219 0.219 T 0.037 0.245 B 0.006 0.210 B 0.170 0.174 N 1 0.090 P 0.695 0.181 N -4.92 0.984 D -0.15 0.095 N 0.018 0.003 -0.950 0.411 T 0.000 0.000 T . . . 1.687 0.264 14.34 0.954 0.262 0.077 0.135 N c -0.952 -0.994 0.123 0.169 0.581 0.326 0 -1.8 0.074 -0.303 0.082 -0.023 0.128 0.000 0.063 0.073 0.177 4.729 0.122 . ENSG00000180176.10|ENSG00000180176.10 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.4284 0.1303 0.4352 0.3860 0.7985 0.4532 0.3722 0.4324 0.5573 0.3390 0.1454 0.4270 0.4139 0.8090 0.4349 0.3667 0.4187 hom 2294.02 75 11 2190951 . C T 2294.02 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=30.59;VQSLOD=9.4947;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2327,184,0 11 2424684 2424684 A C exonic TSSC4 nonsynonymous SNV TSSC4:NM_001297659:exon3:c.A821C:p.H274P,TSSC4:NM_005706:exon3:c.A821C:p.H274P,TSSC4:NM_001297658:exon4:c.A821C:p.H274P,TSSC4:NM_001297660:exon4:c.A821C:p.H274P,TSSC4:NM_001297661:exon4:c.A629C:p.H210P 1. 1. 0.99 1. 0.99 1. 0.9936 0.9984 0.9967 1 0.9822 0.9918 0.9876 0.9971 0.99 1. 0.99 0.95 0.49 rs2234283 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.135 0.028 N 1 0.090 P -1.15 0.009 N 2.31 0.168 T 1.53 0.007 N 0.025 0.075 -0.954 0.403 T 0.000 0.000 T . . . -1.531 0.016 0.002 0.812 0.131 0.012 0.043 N c -1.553 -1.463 0.989 0.317 0.707 0.730 0 0.662 0.170 0.455 0.214 -0.405 0.062 0.000 0.063 0.007 0.100 0.542 0.006 . . . 0.9931 0.9982 0.9961 0.9987 0.9999 0.9833 0.9907 0.9912 0.9976 0.9916 0.9991 0.9964 0.9967 1 0.9779 0.9895 0.9857 hom 546.21 17 11 2424684 . A C 546.21 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.13;VQSLOD=13.6423;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:579,45,0 11 2427291 2427291 A C exonic TRPM5 synonymous SNV TRPM5:NM_014555:exon22:c.T3282G:p.G1094G 0.77 0.91 0.69 0.54 0.87 0.8 0.8101 0.8986 0.5909 0.5470 0.8363 0.8700 0.8168 0.7935 0.87 0.89 0.86 0.77 0.88 rs800342 COSM3765560 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7986 0.8985 0.6016 0.8851 0.5437 0.8330 0.8697 0.8252 0.7932 0.8447 0.8988 0.6639 0.8907 0.5348 0.8287 0.8602 0.8350 het 1788.02 184 11 2427291 . A C 1788.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.795;DP=184;Dels=0.00;FS=0.578;HRun=5;HaplotypeScore=1.7287;MQ=58.46;MQ0=0;MQRankSum=0.455;QD=9.72;ReadPosRankSum=0.499;VQSLOD=6.1381;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,77:184:99:1818,0,2573 11 2797237 2797237 G A exonic KCNQ1 synonymous SNV KCNQ1:NM_000218:exon13:c.G1638A:p.S546S,KCNQ1:NM_181798:exon13:c.G1257A:p.S419S 0.18 0.011 0.33 0.29 0.2 0.17 0.2584 0.0589 0.4707 0.3899 0.3558 0.2836 0.2391 0.2042 0.14 0.046 0.19 0.12 0.098 rs1057128 COSM1604458 1(liver) Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Familial_atrial_fibrillation|short_QT_syndrome|Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Romano-Ward_syndrome RCV000035344.4|RCV000253955.1|RCV000300054.1|RCV000315174.1|RCV000368527.1|RCV000397478.1|RCV000397505.1 MedGen|MedGen|MedGen:Orphanet|MedGen:Orphanet|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN230736|CN204347:ORPHA334|C2348199:ORPHA51083|C0023976:9651007|C0022387:ORPHA90647:373905003|CN119492:20852007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2074 0.0354 0.3595 0.1615 0.2826 0.1777 0.1866 0.2086 0.1829 0.1654 0.0459 0.3329 0.1490 0.2932 0.1970 0.2029 0.1939 het 31.31 21 11 2797237 . G A 31.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.055;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=-0.553;QD=1.49;ReadPosRankSum=-0.352;VQSLOD=4.3421;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,3:21:61.30:61,0,437 11 2924610 2924610 G A exonic SLC22A18 nonsynonymous SNV SLC22A18:NM_001315501:exon2:c.G290A:p.R97Q,SLC22A18:NM_001315502:exon2:c.G35A:p.R12Q,SLC22A18:NM_002555:exon2:c.G35A:p.R12Q,SLC22A18:NM_183233:exon2:c.G35A:p.R12Q 0.61 0.45 0.59 0.76 0.6 0.68 0.6087 0.4726 0.6511 0.7745 0.6133 0.5884 0.6312 0.6548 0.54 0.48 0.58 0.55 0.43 rs1048047 COSM3765563 2(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.069 0.022 N 1 0.090 P -1.61 0.004 N 0.56 0.546 T 0.93 0.016 N 0.047 0.174 -0.959 0.394 T 0.000 0.000 T . . . -0.566 0.052 0.151 0.851 0.152 0.001 0.009 N c -1.779 -1.741 1.000 0.747 0.706 0.609 0 -1.5 0.082 0.008 0.130 0.043 0.157 0.077 0.221 0.036 0.153 3.970 0.089 . ENSG00000110628.9|ENSG00000110628.9|ENSG00000110628.9|ENSG00000110628.9|ENSG00000254827.1|ENSG00000110628.9|ENSG00000110628.9|ENSG00000254827.1|ENSG00000110628.9|ENSG00000110628.9|ENSG00000254827.1|ENSG00000110628.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Liver|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.6125 0.4746 0.6418 0.6293 0.7786 0.6191 0.5820 0.6182 0.6545 0.5652 0.4742 0.6089 0.6126 0.7995 0.6398 0.5707 0.5828 het 1522.08 106 11 2924610 . G A 1522.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.234;DP=106;Dels=0.00;FS=2.581;HRun=0;HaplotypeScore=3.0675;MQ=59.03;MQ0=0;MQRankSum=0.913;QD=14.36;ReadPosRankSum=-0.811;VQSLOD=5.9043;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,52:106:99:1552,0,1388 11 2929552 2929552 A G exonic SLC22A18 synonymous SNV SLC22A18:NM_001315501:exon3:c.A489G:p.V163V,SLC22A18:NM_001315502:exon3:c.A234G:p.V78V,SLC22A18:NM_002555:exon3:c.A234G:p.V78V,SLC22A18:NM_183233:exon3:c.A234G:p.V78V 0.75 0.72 0.69 0.8 0.74 0.8 0.7485 0.7510 0.7193 0.8182 0.7764 0.7316 0.75 0.7876 0.73 0.75 0.73 0.7 0.68 rs429886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7475 0.7523 0.7117 0.7685 0.8214 0.7767 0.7282 0.7543 0.7831 0.7551 0.7590 0.7022 0.7682 0.8372 0.7940 0.7374 0.7556 het 671.71 46 11 2929552 . A G 671.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.781;DP=46;Dels=0.00;FS=4.546;HRun=0;HaplotypeScore=0.9998;MQ=59.09;MQ0=0;MQRankSum=0.698;QD=14.60;ReadPosRankSum=1.540;VQSLOD=5.4968;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,26:46:99:702,0,478 11 2950558 2950558 A G exonic PHLDA2 synonymous SNV PHLDA2:NM_003311:exon1:c.T37C:p.L13L 0.071 0.055 0.088 0.002 0.17 0.046 0.1377 0.0678 0.0687 0.0006 0.1843 0.1914 0.1292 0.0710 0.14 0.068 0.18 0.033 0.16 rs13390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1294 0.0582 0.0689 0.1272 0.0004 0.1682 0.1864 0.1398 0.0709 0.1362 0.0631 0.0791 0.1457 0 0.1660 0.1889 0.1502 het 455.87 39 11 2950558 . A G 455.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.097;DP=39;Dels=0.00;FS=11.101;HRun=0;HaplotypeScore=0.0000;MQ=58.37;MQ0=0;MQRankSum=0.528;QD=11.69;ReadPosRankSum=1.328;VQSLOD=4.5139;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,16:39:99:486,0,551 11 3111866 3111866 C T exonic OSBPL5 nonsynonymous SNV OSBPL5:NM_001144063:exon19:c.G2116A:p.A706T,OSBPL5:NM_145638:exon19:c.G2116A:p.A706T,OSBPL5:NM_020896:exon20:c.G2320A:p.A774T 0.17 0.16 0.11 0.026 0.23 0.29 0.2016 0.1614 0.0860 0.0323 0.3591 0.2136 0.2269 0.2853 0.18 0.16 0.19 0.14 0.15 rs2277301 COSM5618434 1(breast) . . . . . . . . . . . 0.588 0.058 T 0.0 0.067 B 0.001 0.040 B 0.114 0.027 N 1.000 0.214 P -0.895 0.014 N 0.95 0.437 T -0.08 0.096 N 0.02 0.040 -1.022 0.230 T 0.000 0.000 T . . . 1.447 0.237 13.03 0.701 0.089 0.300 0.238 N c -0.701 -0.551 0.999 0.388 0.646 0.450 0 2.7 0.309 2.048 0.407 0.843 0.344 1.000 0.715 0.998 0.697 3.790 0.082 . ENSG00000021762.15 Artery_Tibial 0.1964 0.1590 0.0907 0.1784 0.0288 0.3588 0.2041 0.2032 0.2837 0.2085 0.1586 0.0907 0.1921 0.0247 0.3724 0.2224 0.2654 het 326.85 32 11 3111866 . C T 326.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.838;DP=32;Dels=0.00;FS=1.779;HRun=0;HaplotypeScore=0.8667;MQ=59.28;MQ0=0;MQRankSum=0.933;QD=10.21;ReadPosRankSum=0.853;VQSLOD=5.8879;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,14:32:99:357,0,503 11 3129027 3129027 G A exonic OSBPL5 synonymous SNV OSBPL5:NM_001144063:exon7:c.C636T:p.T212T,OSBPL5:NM_145638:exon7:c.C636T:p.T212T,OSBPL5:NM_020896:exon8:c.C840T:p.T280T 0.45 0.78 0.36 0.05 0.44 0.5 0.4191 0.7335 0.3116 0.0437 0.3857 0.4246 0.4050 0.4850 0.53 0.72 0.43 0.48 0.45 rs3741350 COSM3752324 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4092 0.7379 0.3266 0.4563 0.0399 0.375 0.4275 0.4095 0.4855 0.4791 0.7194 0.3813 0.4470 0.0385 0.3790 0.4230 0.3768 hom 1895.38 58 11 3129027 . G A 1895.38 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.60;MQ0=0;QD=32.68;VQSLOD=9.1240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1928,147,0 11 3249552 3249552 C T exonic MRGPRE nonsynonymous SNV MRGPRE:NM_001039165:exon2:c.G478A:p.G160S 0.29 0.095 0.24 0.38 0.45 0.35 0.4564 0.2030 0.3709 0.4866 0.5877 0.5409 0.4234 0.3557 0.29 0.12 0.38 0.14 0.033 rs4391795 COSM3752327 3(thyroid);2(large_intestine) . . . . . . . . . . . . . . 0.989 0.609 D 0.776 0.553 P 0.328 0.141 U 1 0.090 P 1.085 0.274 L 1.26 0.363 T . . . 0.092 0.114 -0.931 0.440 T 0.000 0.000 T . . . 1.690 0.264 14.35 0.831 0.141 0.054 0.111 N c -0.622 -0.826 1.000 0.480 0.487 0.133 0 0.817 0.178 0.212 0.172 0.009 0.139 0.003 0.159 0.001 0.043 5.630 0.167 7TM GPCR\x2c serpentine receptor class x (Srx)|GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000184350.8|ENSG00000224513.2 Whole_Blood|Whole_Blood 0.3590 0.1281 0.2069 0.5059 0.3571 0.4189 0.4266 0.3667 0.3380 0.3333 0.1408 0.2452 0.5397 0.3463 0.4065 0.4242 0.3893 het 244.47 13 11 3249552 . C T 244.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=-1.312;QD=18.81;ReadPosRankSum=-0.849;VQSLOD=6.5577;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,9:13:99:274,0,102 11 3249984 3249984 C T exonic MRGPRE nonsynonymous SNV MRGPRE:NM_001039165:exon2:c.G46A:p.G16S 0.33 0.057 0.3 0.47 0.49 0.41 0.4253 0.1193 0.3010 0.4858 0.4860 0.4818 0.4433 0.4033 0.36 0.12 0.47 0.36 0.37 rs12295710 COSM4145658 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.888 0.087 N 1 0.090 P 0 0.065 N 4.31 0.024 T . . . 0.024 0.029 -0.929 0.443 T 0.000 0.000 T . . . -0.227 0.074 0.962 0.748 0.105 0.000 0.004 N c -1.570 -1.614 0.455 0.206 0.581 0.326 0 -2.32 0.063 -0.463 0.067 -0.525 0.049 0.000 0.063 0.000 0.016 6.712 0.223 . ENSG00000184350.8|ENSG00000224513.2 Whole_Blood|Whole_Blood 0.4214 0.1102 0.3069 0.5081 0.4748 0.4802 0.4773 0.4277 0.3966 0.3680 0.1244 0.3254 0.5430 0.4571 0.4716 0.4708 0.4331 het 850.51 63 11 3249984 . C T 850.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.571;DP=63;Dels=0.00;FS=1.122;HRun=0;HaplotypeScore=2.9332;MQ=59.63;MQ0=0;MQRankSum=-0.247;QD=13.50;ReadPosRankSum=1.106;VQSLOD=6.0700;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,32:63:99:881,0,723 11 3381369 3381369 G C exonic ZNF195 nonsynonymous SNV ZNF195:NM_007152:exon4:c.C653G:p.P218R,ZNF195:NM_001130519:exon5:c.C800G:p.P267R,ZNF195:NM_001242843:exon5:c.C665G:p.P222R,ZNF195:NM_001256825:exon5:c.C665G:p.P222R,ZNF195:NM_001130520:exon6:c.C869G:p.P290R,ZNF195:NM_001242841:exon6:c.C812G:p.P271R,ZNF195:NM_001242842:exon6:c.C734G:p.P245R,ZNF195:NM_001256824:exon6:c.C758G:p.P253R 0.22 0.18 0.12 0.41 0.11 0.29 0.1672 0.1689 0.1557 0.4186 0.1062 0.1161 0.1589 0.2747 0.13 0.16 0.11 0.16 0.041 rs62619253 COSM5826956;COSM3752340;COSM3752341 1(large_intestine) . . . . . . . . . . . 0.008 0.614 D 0.048 0.207 B 0.023 0.188 B . . . 1.000 0.588 P 0.655 0.162 N 3.39 0.145 T 1.55 0.008 N 0.055 0.175 -0.925 0.449 T 0.000 0.000 T . . . 1.471 0.239 13.16 0.748 0.105 0.000 0.004 N c -1.140 -1.157 0.040 0.144 0.707 0.730 0 1.11 0.195 2.384 0.438 -0.498 0.052 0.994 0.380 0.013 0.120 5.037 0.137 Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2;Zinc finger\x2c C2H2 ENSG00000005801.12|ENSG00000005801.12|ENSG00000005801.12|ENSG00000005801.12|ENSG00000005801.12|ENSG00000005801.12|ENSG00000005801.12|ENSG00000005801.12|ENSG00000005801.12|ENSG00000005801.12|ENSG00000005801.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.1642 0.1658 0.1473 0.0810 0.4134 0.1128 0.1192 0.1330 0.2745 0.1470 0.1576 0.1492 0.0695 0.3929 0.1119 0.1234 0.1544 het 1685.20 157 11 3381369 . G C 1685.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.468;DP=157;Dels=0.00;FS=15.385;HRun=0;HaplotypeScore=1.6828;MQ=59.03;MQ0=0;MQRankSum=0.968;QD=10.73;ReadPosRankSum=1.532;VQSLOD=2.8945;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,71:157:99:1715,0,2449 11 3659993 3659993 G T exonic ART5 nonsynonymous SNV ART5:NM_053017:exon4:c.C851A:p.T284K,ART5:NM_001079536:exon5:c.C851A:p.T284K 0.3 0.59 0.2 0.23 0.19 0.17 0.2237 0.5377 0.1802 0.2528 0.1850 0.1914 0.1971 0.1887 0.31 0.53 0.2 0.4 0.24 rs2271586 COSM4415319 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.385 0.110 T 0.0 0.026 B 0.0 0.013 B 0.168 0.031 N 1 0.090 P -1.5 0.005 N 3.1 0.083 T -0.1 0.085 N 0.089 0.086 -0.939 0.428 T 0.000 0.000 T . . . -1.518 0.016 0.002 0.600 0.062 0.000 0.002 N c -1.328 -1.211 0.200 0.181 0.706 0.609 0 2.8 0.317 0.778 0.262 0.149 0.237 0.355 0.256 0.029 0.146 2.038 0.033 . . . 0.2174 0.5465 0.1900 0.1897 0.2420 0.1825 0.1945 0.1949 0.1906 0.2963 0.5428 0.1957 0.1921 0.2338 0.1791 0.2013 0.1936 het 1852.83 163 11 3659993 . G T 1852.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.575;DP=163;Dels=0.00;FS=4.896;HRun=1;HaplotypeScore=3.0714;MQ=59.27;MQ0=0;MQRankSum=-0.348;QD=11.37;ReadPosRankSum=0.418;VQSLOD=5.6345;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,74:163:99:1883,0,2211 11 3661140 3661140 T C exonic ART5 synonymous SNV ART5:NM_001297668:exon2:c.A519G:p.G173G,ART5:NM_053017:exon2:c.A519G:p.G173G,ART5:NM_001079536:exon3:c.A519G:p.G173G 0.99 0.97 1. 1. 1. 1. 0.9976 0.9730 0.9990 1 1 1.0000 1 0.9999 0.99 0.98 1. 0.99 0.86 rs4910876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9706 0.9992 1 1 1 1.0000 0.9995 1.0000 0.9920 0.9720 0.9988 1 1 1 0.9999 0.9990 hom 1796.07 56 11 3661140 . T C 1796.07 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.7887;MQ=58.32;MQ0=0;QD=32.07;VQSLOD=8.5419;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1829,141,0 11 3661585 3661585 - TGG exonic ART5 nonframeshift insertion ART5:NM_001297668:exon2:c.73_74insCCA:p.P24_I25insT,ART5:NM_053017:exon2:c.73_74insCCA:p.P24_I25insT,ART5:NM_001079536:exon3:c.73_74insCCA:p.P24_I25insT 0.97 0.88 0.99 1. 1. 1. 0.9907 0.8994 0.9957 1 0.9989 0.9987 0.9977 0.9987 0.96 0.9 1. 0.011 . rs397784566 COSM5713185;COSM926764 6(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9923 0.8978 0.9947 0.9991 1 0.9994 0.9989 0.9962 0.9992 0.9705 0.9021 0.9916 1 1 0.9977 0.9972 0.9959 hom 5247.29 86 11 3661585 . A ATGG 5247.29 Mask AC=2;AF=1.00;AN=2;DP=86;FS=0.000;HRun=0;HaplotypeScore=266.8164;MQ=54.18;MQ0=0;QD=59.63;set=variant2 GT:AD:DP:GQ:PL 1/1:14,74:86:99:5247,238,0 11 3681519 3681519 T C exonic ART1 nonsynonymous SNV ART1:NM_004314:exon3:c.T770C:p.L257P 0.55 0.45 0.81 0.29 0.7 0.63 0.6454 0.4728 0.8607 0.3311 0.6930 0.6824 0.6804 0.5942 0.61 0.48 0.68 0.48 0.6 rs2280134 COSM4145681 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid) . . . . . . . . . . . 0.266 0.162 T 0.0 0.026 B 0.0 0.013 B 0.581 0.111 N 1 0.090 P -1.875 0.003 N 3.19 0.074 T 0.51 0.029 N 0.074 0.064 -1.022 0.231 T 0.000 0.000 T . . . 1.451 0.237 13.05 0.980 0.368 0.001 0.007 N c -0.957 -0.727 0.814 0.244 0.428 0.059 0 4.01 0.457 -0.392 0.073 0.014 0.141 0.000 0.063 0.699 0.309 4.812 0.126 . ENSG00000129744.2|ENSG00000129744.2|ENSG00000167311.9|ENSG00000167311.9 Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.6558 0.4690 0.8521 0.6949 0.3287 0.6800 0.6798 0.7056 0.5931 0.6030 0.4809 0.8612 0.6788 0.3398 0.6815 0.6656 0.6442 het 982.28 124 11 3681519 . T C 982.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.551;DP=124;Dels=0.00;FS=6.057;HRun=1;HaplotypeScore=3.9039;MQ=59.04;MQ0=0;MQRankSum=0.773;QD=7.92;ReadPosRankSum=-2.683;VQSLOD=2.9994;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,45:124:99:1012,0,2013 11 3714489 3714489 C T exonic NUP98 synonymous SNV NUP98:NM_016320:exon27:c.G4284A:p.A1428A,NUP98:NM_139132:exon27:c.G4284A:p.A1428A 0.28 0.36 0.097 0.32 0.19 0.33 0.2108 0.3278 0.0836 0.3075 0.2702 0.1744 0.2225 0.2981 0.22 0.33 0.17 0.34 0.2 rs1875 COSM3998399;COSM3998400 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2057 0.3363 0.0843 0.1340 0.3057 0.2768 0.1765 0.1834 0.2985 0.2468 0.3289 0.0776 0.1291 0.3 0.2845 0.1982 0.2188 het 4444.86 249 11 3714489 . C T 4444.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DP=249;DS;Dels=0.00;FS=2.939;HRun=0;HaplotypeScore=3.5448;MQ=59.03;MQ0=0;MQRankSum=-0.906;QD=17.85;ReadPosRankSum=2.245;VQSLOD=4.3863;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,150:249:99:3842,0,2446 11 4103524 4103524 A G exonic STIM1 synonymous SNV STIM1:NM_001277961:exon8:c.A1080G:p.Q360Q,STIM1:NM_001277962:exon8:c.A1080G:p.Q360Q,STIM1:NM_003156:exon8:c.A1080G:p.Q360Q 0.39 0.098 0.48 0.44 0.57 0.48 0.4996 0.1703 0.5149 0.4467 0.4901 0.5662 0.5022 0.4555 0.44 0.17 0.57 0.42 0.53 rs2304891 COSM428967 1(liver) Benign not_specified RCV000250516.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5030 0.1587 0.5065 0.5542 0.4360 0.4912 0.5705 0.5319 0.4507 0.4212 0.1658 0.4737 0.5596 0.4392 0.5052 0.5395 0.4703 hom 1706.49 51 11 4103524 . A G 1706.49 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4029;MQ=59.09;MQ0=0;QD=33.46;VQSLOD=9.3943;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1739,138,0 11 4141132 4141132 C A exonic RRM1 synonymous SNV RRM1:NM_001330193:exon3:c.C184A:p.R62R,RRM1:NM_001318064:exon8:c.C559A:p.R187R,RRM1:NM_001033:exon9:c.C850A:p.R284R 0.32 0.023 0.44 0.38 0.52 0.39 0.4489 0.0927 0.4620 0.3812 0.4589 0.5304 0.4526 0.3659 0.39 0.11 0.53 0.37 0.55 rs183484 COSM5425311 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4531 0.0854 0.4534 0.4962 0.3727 0.4650 0.5350 0.4792 0.3558 0.3832 0.0990 0.4414 0.4967 0.3781 0.4799 0.5177 0.4384 hom 4683.49 160 11 4141132 . C A 4683.49 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9134;MQ=58.92;MQ0=0;QD=29.27;VQSLOD=7.7095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4683,352,0 11 4159457 4159457 A G exonic RRM1 synonymous SNV RRM1:NM_001318065:exon13:c.A1209G:p.T403T,RRM1:NM_001330193:exon13:c.A1557G:p.T519T,RRM1:NM_001318064:exon18:c.A1932G:p.T644T,RRM1:NM_001033:exon19:c.A2223G:p.T741T 0.34 0.095 0.44 0.38 0.52 0.39 0.4614 0.1521 0.4665 0.3815 0.4596 0.5346 0.4585 0.3944 0.41 0.17 0.54 0.35 0.49 rs9937 COSM3998402 3(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4613 0.1412 0.4627 0.5032 0.3742 0.4657 0.5383 0.4836 0.3664 0.3995 0.1575 0.4438 0.4867 0.3716 0.4790 0.5181 0.4395 hom 2257.55 82 11 4159457 . A G 2257.55 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=56.64;MQ0=0;QD=27.53;VQSLOD=6.5754;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2291,187,0 11 4159466 4159466 G A exonic RRM1 synonymous SNV RRM1:NM_001318065:exon13:c.G1218A:p.A406A,RRM1:NM_001330193:exon13:c.G1566A:p.A522A,RRM1:NM_001318064:exon18:c.G1941A:p.A647A,RRM1:NM_001033:exon19:c.G2232A:p.A744A 0.85 0.8 0.83 0.76 0.93 0.93 0.8924 0.8140 0.8085 0.7412 0.8896 0.9267 0.9024 0.9423 0.89 0.82 0.93 0.65 0.87 rs1042858 COSM3998403 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8897 0.8113 0.8123 0.9170 0.7372 0.8990 0.9287 0.8872 0.9400 0.8784 0.8104 0.8141 0.91 0.7435 0.8956 0.9311 0.8832 hom 2448.58 87 11 4159466 . G A 2448.58 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=57.11;MQ0=0;QD=28.14;VQSLOD=6.7733;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2482,187,0 11 4389405 4389405 G - exonic OR52B4 frameshift deletion OR52B4:NM_001005161:exon1:c.121delC:p.L41Ffs*43 0.32 0.14 0.42 0.42 0.35 0.36 0.3555 0.1728 0.5059 0.4361 0.3954 0.3464 0.3624 0.3388 0.29 0.18 0.35 . . rs398075683 COSM5713186 1(large_intestine);2(central_nervous_system) Benign not_specified RCV000454876.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3618 0.1670 0.4968 0.3196 0.4338 0.3780 0.3444 0.3652 0.3354 0.3179 0.1717 0.4663 0.3212 0.4539 0.3857 0.3605 0.3732 hom 2164.12 62 11 4389404 . AG A 2164.12 Mask AC=2;AF=1.00;AN=2;DP=62;FS=0.000;HRun=3;HaplotypeScore=158.7837;MQ=61.09;MQ0=0;QD=34.91;set=variant2 GT:AD:DP:GQ:PL 1/1:2,60:62:99:2206,181,0 11 4510285 4510285 A G exonic OR52K1 nonsynonymous SNV OR52K1:NM_001005171:exon1:c.A155G:p.Q52R 0.38 0.55 0.22 0.32 0.3 0.44 0.3153 0.5108 0.1371 0.3275 0.2969 0.2897 0.3304 0.4211 0.37 0.5 0.3 0.35 0.3 rs96489 COSM147107 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.858 0.027 T 0.0 0.026 B 0.0 0.013 B 0.667 0.060 N 1 0.090 P -0.985 0.012 N 4.1 0.030 T 0.57 0.026 N 0.013 0.002 -0.970 0.373 T 0.000 0.000 T . . . -2.630 0.003 0.001 0.144 0.003 0.005 0.023 N c -2.010 -1.987 0.068 0.154 0.487 0.133 0 -1.92 0.072 -6.930 0.001 -2.216 0.004 0.000 0.063 0.001 0.043 7.262 0.252 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3045 0.5089 0.1506 0.2877 0.3254 0.2959 0.2917 0.2774 0.4224 0.3573 0.4952 0.1778 0.2748 0.3472 0.3040 0.3050 0.3189 hom 4876.99 158 11 4510285 . A G 4876.99 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=59.26;MQ0=0;QD=30.87;VQSLOD=9.1071;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4876,391,0 11 4510587 4510587 C T exonic OR52K1 nonsynonymous SNV OR52K1:NM_001005171:exon1:c.C457T:p.R153W 0.22 0.12 0.14 0.23 0.24 0.39 0.2259 0.1306 0.1013 0.2355 0.2523 0.2247 0.2665 0.3602 0.2 0.13 0.23 0.13 0.2 rs331510 COSM5426769 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.008 0.586 D 0.067 0.222 B 0.034 0.212 B 0.001 0.409 D 1 0.090 P 3.285 0.905 M 8.9 0.000 T -7.36 0.946 D 0.177 0.215 -0.990 0.325 T 0.000 0.000 T . . . 2.664 0.381 20.6 0.989 0.470 0.013 0.045 N c -0.899 -0.989 0.028 0.138 0.487 0.133 0 2.18 0.267 -3.618 0.005 -0.355 0.069 0.000 0.063 0.003 0.074 7.901 0.287 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2238 0.1252 0.1108 0.2128 0.2374 0.2503 0.2282 0.2140 0.3588 0.2063 0.1235 0.1340 0.2119 0.2450 0.2566 0.2402 0.2413 hom 5892.35 185 11 4510587 . C T 5892.35 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.201;DP=185;Dels=0.00;FS=2.264;HRun=0;HaplotypeScore=5.4191;MQ=57.00;MQ0=0;MQRankSum=2.586;QD=31.85;ReadPosRankSum=-1.523;VQSLOD=2.8611;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:4,181:185:99:5822,409,0 11 4566711 4566711 C T exonic OR52M1 synonymous SNV OR52M1:NM_001004137:exon1:c.C291T:p.D97D 0.44 0.52 0.34 0.26 0.49 0.52 0.4594 0.5093 0.2395 0.2843 0.4585 0.5029 0.5 0.4960 0.51 0.51 0.52 0.41 0.53 rs2709182 COSM4419275 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4510 0.5055 0.2508 0.6127 0.2836 0.4552 0.5020 0.4633 0.4950 0.4865 0.5038 0.2924 0.6523 0.2991 0.4716 0.5081 0.4795 hom 4872.16 153 11 4566711 . C T 4872.16 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.664;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3545;MQ=59.30;MQ0=0;MQRankSum=-0.509;QD=31.84;ReadPosRankSum=-1.302;VQSLOD=5.9287;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,152:153:99:4872,391,0 11 4567335 4567335 C G exonic OR52M1 nonsynonymous SNV OR52M1:NM_001004137:exon1:c.C915G:p.S305R 0.43 0.58 0.27 0.3 0.38 0.49 0.3922 0.5474 0.1858 0.3338 0.3887 0.3891 0.4161 0.4843 0.44 0.54 0.4 0.36 0.47 rs2657167 COSM147108 1(stomach);1(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.513 N 1 0.090 P -1.51 0.005 N 1.25 0.365 T 2.82 0.002 N 0.116 0.127 -1.021 0.233 T 0.000 0.000 T . . . -1.632 0.014 0.002 0.052 0.000 0.002 0.010 N c -1.799 -1.734 0.002 0.094 0.487 0.133 0 -2.88 0.053 -0.641 0.055 -0.733 0.036 0.000 0.063 0.714 0.313 2.375 0.040 . . . 0.3810 0.5486 0.1965 0.4525 0.3316 0.3840 0.3887 0.3763 0.4748 0.4284 0.5387 0.2368 0.4404 0.3582 0.4010 0.3922 0.3747 hom 2104.74 66 11 4567335 . C G 2104.74 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=58.79;MQ0=0;QD=31.89;VQSLOD=9.6323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2138,166,0 11 4661285 4661285 A G exonic OR51D1 nonsynonymous SNV OR51D1:NM_001004751:exon1:c.A265G:p.I89V 0.12 0.018 0.2 0.003 0.3 0.13 0.2431 0.0671 0.1804 0.0016 0.3184 0.3288 0.2610 0.1475 0.25 0.085 0.34 0.065 0.39 rs905871 COSM3752373 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.139 0.257 T 0.0 0.026 B 0.0 0.013 B 0.880 0.072 N 1 0.090 P -0.805 0.016 N 7.71 0.004 T 0.16 0.052 N 0.011 0.001 -1.083 0.068 T 0.000 0.000 T . . . -2.870 0.002 0.001 0.276 0.014 0.030 0.078 N c -1.948 -1.941 0.005 0.110 0.487 0.133 0 -4.42 0.033 -1.653 0.021 -0.431 0.058 0.000 0.063 0.487 0.269 5.308 0.150 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2464 0.0659 0.1858 0.3379 0.0014 0.3245 0.3300 0.2726 0.1465 0.2358 0.0694 0.2160 0.3245 0.0012 0.3316 0.3321 0.2806 het 1452.84 106 11 4661285 . A G 1452.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.973;DP=106;Dels=0.00;FS=3.595;HRun=0;HaplotypeScore=2.7604;MQ=58.81;MQ0=0;MQRankSum=0.569;QD=13.71;ReadPosRankSum=-1.321;VQSLOD=5.7947;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,53:106:99:1483,0,1507 11 4674575 4674575 G A exonic OR51E1 synonymous SNV OR51E1:NM_152430:exon2:c.G819A:p.P273P 0.29 0.2 0.42 0.056 0.5 0.36 0.4296 0.2360 0.4225 0.0585 0.4164 0.5166 0.4548 0.4030 0.44 0.24 0.54 0.29 0.54 rs3817098 COSM3752376 1(large_intestine) . . . . . . . . . . . 0.374 0.114 T . . . . . . . . . 1 0.090 P . . . 1.22 0.370 T 2.0 0.004 N . . -0.930 0.442 T 0.000 0.000 T . . . 0.020 0.095 2.777 0.972 0.321 0.054 0.112 N c -0.613 -0.707 0.001 0.075 0.487 0.133 0 -0.309 0.121 -2.538 0.010 0.067 0.174 0.000 0.063 0.656 0.300 2.452 0.042 . . . 0.4326 0.2333 0.4214 0.4953 0.0594 0.4268 0.5240 0.4661 0.4010 0.4014 0.2407 0.4511 0.4934 0.0575 0.4344 0.5167 0.4429 het 2856.66 204 11 4674575 . G A 2856.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.831;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.5934;MQ=59.32;MQ0=0;MQRankSum=1.467;QD=14.00;ReadPosRankSum=0.520;VQSLOD=4.2512;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,105:204:99:2887,0,2534 11 4703165 4703165 C A exonic OR51E2 synonymous SNV OR51E2:NM_030774:exon2:c.G777T:p.V259V 0.75 0.53 0.77 0.82 0.83 0.89 0.8203 0.5737 0.7545 0.7883 0.8942 0.8544 0.8282 0.8702 0.75 0.57 0.84 0.71 0.82 rs1123991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8184 0.5642 0.7503 0.7824 0.7859 0.8929 0.8530 0.8188 0.8692 0.7751 0.5808 0.7327 0.7914 0.7872 0.8918 0.8575 0.8395 het 2406.79 208 11 4703165 . C A 2406.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.237;DP=208;Dels=0.00;FS=0.525;HRun=1;HaplotypeScore=3.7101;MQ=59.67;MQ0=0;MQRankSum=-0.864;QD=11.57;ReadPosRankSum=-0.671;VQSLOD=5.8583;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:121,87:208:99:2437,0,3432 11 4791111 4791111 T C exonic OR51F1 nonsynonymous SNV OR51F1:NM_001004752:exon1:c.A37G:p.T13A 0.14 0.0091 0.14 0.064 0.25 0.26 0.2249 0.0484 0.1207 0.0698 0.2456 0.2792 0.25 0.2516 0.19 0.048 0.27 0.15 0.2 rs17324812 COSM3752396;COSM3752395 1(large_intestine) . . . . . . . . . . . 0.2 0.203 T 0.005 0.119 B 0.006 0.112 B 0.028 0.257 N 0.000 0.588 P 1.72 0.446 L 8.1 0.003 T -1.42 0.350 N 0.025 0.009 -0.951 0.408 T 0.000 0.000 T . . . 0.596 0.151 8.126 0.960 0.278 0.063 0.122 N c -0.554 -0.539 0.000 0.012 0.487 0.133 0 0.84 0.180 -1.076 0.035 0.118 0.209 0.000 0.063 0.996 0.625 4.146 0.096 . . . 0.2118 0.0415 0.1191 0.2416 0.0657 0.2372 0.2703 0.2122 0.2397 0.1830 0.0455 0.1539 0.2417 0.0568 0.2446 0.2606 0.2149 hom 2114.19 70 11 4791111 . T C 2114.19 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=30.20;VQSLOD=8.7355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2147,163,0 11 4869649 4869649 G A exonic OR51S1 nonsynonymous SNV OR51S1:NM_001004758:exon1:c.C790T:p.L264F 0.3 0.34 0.26 0.068 0.4 0.4 0.3702 0.3480 0.1976 0.0567 0.4619 0.4325 0.4106 0.3785 0.4 0.35 0.43 0.3 0.4 rs12361955 COSM3752406 1(large_intestine) . . . . . . . . . . . 0.014 0.531 D 0.003 0.102 B 0.007 0.121 B 0.019 0.273 N 1.000 0.090 P 0.225 0.096 N -0.74 0.732 T 0.0 0.070 N 0.089 0.089 -0.994 0.317 T 0.000 0.000 T . . . 2.245 0.331 17.81 0.989 0.474 0.020 0.059 N c -0.598 -0.475 0.000 0.012 0.487 0.133 0 3.29 0.366 -0.233 0.090 0.067 0.174 0.000 0.063 0.585 0.286 8.959 0.348 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000197023.6 Testis 0.3642 0.3544 0.2132 0.4893 0.0570 0.4476 0.4272 0.3833 0.3739 0.3799 0.3513 0.2399 0.5 0.0583 0.4442 0.4212 0.3875 het 2039.70 183 11 4869649 . G A 2039.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.562;DP=183;DS;Dels=0.00;FS=0.586;HRun=1;HaplotypeScore=4.4833;MQ=58.96;MQ0=0;MQRankSum=0.849;QD=11.15;ReadPosRankSum=-0.439;VQSLOD=6.0090;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,74:183:99:2070,0,3190 11 4869906 4869906 A C exonic OR51S1 nonsynonymous SNV OR51S1:NM_001004758:exon1:c.T533G:p.L178R 0.5 0.62 0.41 0.094 0.61 0.71 0.5654 0.6065 0.3136 0.0909 0.5558 0.6274 0.6377 0.7148 0.62 0.6 0.63 0.51 0.5 rs7117260 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.795 0.067 N 0.999 0.213 P -2.025 0.002 N 1.23 0.369 T 3.44 0.001 N 0.021 0.005 -0.956 0.400 T 0.000 0.000 T . . . -2.105 0.007 0.001 0.481 0.039 0.003 0.017 N c -2.428 -2.382 0.292 0.191 0.487 0.133 0 -8.88 0.007 -5.761 0.001 -1.641 0.008 0.000 0.063 0.424 0.258 11.681 0.505 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5529 0.6089 0.3305 0.7588 0.0902 0.5483 0.6209 0.5895 0.7129 0.5597 0.6037 0.3723 0.7682 0.0912 0.5461 0.5941 0.5594 hom 6441.69 218 11 4869906 . A C 6441.69 Mask AC=2;AF=1.00;AN=2;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4272;MQ=60.27;MQ0=0;QD=29.55;VQSLOD=7.9471;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,217:218:99:6440,532,0 11 4870139 4870139 G A exonic OR51S1 synonymous SNV OR51S1:NM_001004758:exon1:c.C300T:p.V100V 0.24 0.12 0.24 0.068 0.4 0.4 0.3527 0.1594 0.1907 0.0568 0.4617 0.4316 0.4042 0.3775 0.34 0.17 0.43 0.2 0.39 rs11602455 COSM3752407 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3498 0.1583 0.2036 0.4873 0.0569 0.4475 0.4263 0.3748 0.3737 0.3259 0.1625 0.2261 0.5 0.0582 0.4447 0.4207 0.3796 het 1637.08 147 11 4870139 . G A 1637.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.408;DP=147;Dels=0.00;FS=4.045;HRun=1;HaplotypeScore=7.4962;MQ=59.21;MQ0=0;MQRankSum=0.135;QD=11.14;ReadPosRankSum=-1.187;VQSLOD=3.7736;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,68:147:99:1667,0,2336 11 4870261 4870261 G C exonic OR51S1 nonsynonymous SNV OR51S1:NM_001004758:exon1:c.C178G:p.Q60E 0.27 0.24 0.26 0.068 0.41 0.42 0.3647 0.2730 0.1961 0.0568 0.4614 0.4322 0.4108 0.3875 0.38 0.28 0.43 0.24 0.39 rs11602499 COSM3752408 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.019 0.273 N 1.000 0.182 P -2.23 0.001 N 4.19 0.027 T 2.37 0.003 N 0.017 0.003 -0.945 0.418 T 0.000 0.000 T . . . -2.120 0.007 0.001 0.530 0.048 0.002 0.013 N c -1.356 -1.176 0.041 0.145 0.526 0.212 0 4.85 0.622 1.029 0.295 0.014 0.141 0.009 0.180 0.010 0.111 14.146 0.647 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000197023.6 Testis 0.3599 0.2757 0.2107 0.4883 0.0570 0.4472 0.4269 0.3827 0.3834 0.3584 0.2774 0.2351 0.5 0.0580 0.4451 0.4204 0.3850 het 1537.90 119 11 4870261 . G C 1537.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.013;DP=119;Dels=0.00;FS=0.691;HRun=1;HaplotypeScore=4.9059;MQ=58.83;MQ0=0;MQRankSum=-0.514;QD=12.92;ReadPosRankSum=-0.320;VQSLOD=4.7993;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1568,0,1678 11 4870269 4870269 A T exonic OR51S1 nonsynonymous SNV OR51S1:NM_001004758:exon1:c.T170A:p.I57N 0.14 0.067 0.13 0.031 0.2 0.31 0.1795 0.0839 0.1093 0.0383 0.0937 0.1937 0.2170 0.3375 0.16 0.09 0.19 0.13 0.18 rs12417164 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.985 0.749 D 0.001 0.414 D 0.000 0.588 P 4.1 0.974 H 3.06 0.087 T -6.12 0.900 D 0.314 0.393 -1.085 0.063 T 0.000 0.001 T . . . 4.289 0.574 24.0 0.993 0.573 0.873 0.465 D c 0.560 0.390 0.762 0.235 0.526 0.212 0 4.85 0.622 6.037 0.704 1.088 0.866 0.840 0.300 0.973 0.468 13.409 0.602 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1763 0.0807 0.1094 0.2604 0.0370 0.1010 0.1928 0.1993 0.3388 0.1301 0.0807 0.1241 0.2649 0.0377 0.1017 0.1710 0.1612 het 1495.40 121 11 4870269 . A T 1495.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.625;DP=121;Dels=0.00;FS=0.681;HRun=1;HaplotypeScore=1.5779;MQ=58.85;MQ0=0;MQRankSum=0.499;QD=12.36;ReadPosRankSum=1.650;VQSLOD=5.9340;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,57:121:99:1525,0,1708 11 4870298 4870298 T G exonic OR51S1 synonymous SNV OR51S1:NM_001004758:exon1:c.A141C:p.A47A 0.17 0.023 0.14 0.068 0.26 0.4 0.2523 0.0506 0.1204 0.0569 0.3304 0.2965 0.2852 0.3621 0.21 0.053 0.29 0.11 0.25 rs11601065 COSM3752409 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2475 0.0465 0.1222 0.2851 0.0569 0.3198 0.2940 0.2576 0.3568 0.2160 0.0553 0.1423 0.3245 0.0581 0.3238 0.3000 0.2664 het 1992.95 132 11 4870298 . T G 1992.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.112;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.24;MQ0=0;MQRankSum=-0.146;QD=15.10;ReadPosRankSum=0.233;VQSLOD=6.2938;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,71:132:99:2023,0,1658 11 4928621 4928621 G A exonic OR51A7 nonsynonymous SNV OR51A7:NM_001004749:exon1:c.G22A:p.E8K 0.18 0.07 0.15 0.54 0.084 0.073 0.1304 0.0797 0.2312 0.5534 0.1057 0.0810 0.1208 0.0811 0.078 0.079 0.078 0.12 0.049 rs11034596 COSM147112 1(stomach);1(pancreas);3(large_intestine) . . . . . . . . . . . 0.254 0.169 T 0.023 0.176 B 0.014 0.158 B 0.038 0.243 N 1.000 0.090 P 1.26 0.320 L 2.16 0.192 T -0.95 0.253 N 0.118 0.130 -0.948 0.414 T 0.000 0.000 T . . . -0.731 0.043 0.061 0.790 0.121 0.073 0.132 N c -1.371 -1.356 0.000 0.012 0.487 0.133 0 3.15 0.351 -0.077 0.113 -1.483 0.011 0.000 0.063 0.000 0.016 10.681 0.448 . ENSG00000167346.3 Testis 0.1335 0.0808 0.2098 0.0952 0.5558 0.1019 0.0786 0.1086 0.0796 0.1122 0.0849 0.1754 0.0762 0.5530 0.1066 0.0795 0.1112 het 757.46 70 11 4928621 . G A 757.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.435;DP=70;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.059;QD=10.82;ReadPosRankSum=-0.918;VQSLOD=11.5836;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:787,0,967 11 4928841 4928841 T C exonic OR51A7 nonsynonymous SNV OR51A7:NM_001004749:exon1:c.T242C:p.M81T 0.057 0.029 0.066 0.002 0.12 0.082 0.0861 0.0503 0.0565 0.0007 0.0487 0.1097 0.1035 0.0930 0.098 0.052 0.12 0.087 0.11 rs7108225 . . . . . . . . . . . . . 0.135 0.262 T 0.114 0.248 B 0.137 0.317 B 0.000 0.629 D 1 0.810 D 2.065 0.569 M 3.36 0.059 T -3.42 0.672 D 0.164 0.198 -1.012 0.262 T 0.000 0.002 T . . . 1.335 0.224 12.45 0.961 0.283 0.481 0.279 N c -0.253 -0.186 0.004 0.103 0.487 0.133 0 3.86 0.435 2.548 0.452 1.061 0.807 0.082 0.222 0.991 0.552 9.981 0.408 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0843 0.0489 0.0566 0.0858 0.0005 0.0517 0.1140 0.0880 0.0948 0.0735 0.0472 0.0680 0.0762 0 0.0547 0.1004 0.0886 het 2264.89 189 11 4928841 . T C 2264.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.503;DP=189;Dels=0.00;FS=4.334;HRun=0;HaplotypeScore=11.3787;MQ=58.88;MQ0=0;MQRankSum=-0.172;QD=11.98;ReadPosRankSum=0.762;VQSLOD=3.7539;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,87:189:99:2295,0,2653 11 4929061 4929061 C G exonic OR51A7 synonymous SNV OR51A7:NM_001004749:exon1:c.C462G:p.L154L 0.18 0.061 0.15 0.54 0.085 0.073 0.1299 0.0748 0.2306 0.5553 0.1075 0.0810 0.1222 0.0796 0.077 0.076 0.078 0.11 0.049 rs10500627 COSM147113 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1338 0.0750 0.2100 0.0954 0.5567 0.1038 0.0789 0.1091 0.0797 0.1112 0.0803 0.1754 0.0767 0.5556 0.1079 0.0795 0.1110 het 2103.96 140 11 4929061 . C G 2103.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.200;DP=140;Dels=0.00;FS=8.923;HRun=0;HaplotypeScore=4.3440;MQ=59.34;MQ0=0;MQRankSum=1.689;QD=15.03;ReadPosRankSum=1.489;VQSLOD=3.3965;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,73:140:99:2134,0,1912 11 4936608 4936608 C G exonic OR51G2 nonsynonymous SNV OR51G2:NM_001005238:exon1:c.G286C:p.E96Q 0.052 0.0053 0.072 0.002 0.12 0.081 0.0854 0.0254 0.0545 0.0007 0.0516 0.1122 0.1024 0.0929 0.089 0.028 0.12 0.076 0.09 rs12419598 COSM4973267 1(oesophagus) . . . . . . . . . . . 0.073 0.348 T 0.381 0.326 B 0.179 0.341 B 0.186 0.170 N 0.998 0.223 N 0.785 0.196 N 6.64 0.005 T -1.79 0.422 N 0.043 0.023 -0.904 0.476 T 0.000 0.000 T . . . 0.232 0.116 5.008 0.970 0.313 0.180 0.199 N c -0.283 -0.330 0.000 0.066 0.487 0.133 0 5.47 0.803 -0.396 0.073 0.935 0.490 0.000 0.063 0.252 0.228 18.052 0.892 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0836 0.0222 0.0553 0.0908 0.0005 0.0545 0.1156 0.0887 0.0946 0.0681 0.0214 0.0644 0.0795 0 0.0584 0.1037 0.0859 het 851.77 69 11 4936608 . C G 851.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.435;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8625;MQ=58.66;MQ0=0;MQRankSum=1.976;QD=12.34;ReadPosRankSum=-0.390;VQSLOD=5.6476;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,33:69:99:882,0,1098 11 4945196 4945196 T G exonic OR51G1 nonsynonymous SNV OR51G1:NM_001005237:exon1:c.A374C:p.Y125S 0.66 0.72 0.65 0.72 0.57 0.6 0.5993 0.7085 0.7275 0.6776 0.5188 0.5655 0.5364 0.5723 0.62 0.7 0.58 0.64 0.53 rs1378739 COSM4414964 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.0 0.912 D 0.761 0.416 P 0.247 0.372 B 0.059 0.224 U 0.000 0.810 P 3.5 0.929 M 0.4 0.573 T -6.72 0.925 D 0.32 0.399 -0.966 0.381 T 0.000 0.000 T . . . 4.153 0.557 23.8 0.945 0.245 0.405 0.262 N c -0.079 -0.192 0.000 0.058 0.487 0.133 0 2.99 0.335 -0.270 0.085 0.144 0.231 0.000 0.063 0.025 0.141 9.016 0.351 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5996 0.7101 0.7120 0.4726 0.6751 0.5178 0.5747 0.5805 0.5725 0.6111 0.7021 0.6874 0.4404 0.6675 0.5149 0.5771 0.5583 het 1892.06 130 11 4945196 . T G 1892.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.380;DP=130;Dels=0.00;FS=13.336;HRun=1;HaplotypeScore=3.6896;MQ=59.13;MQ0=0;MQRankSum=0.628;QD=14.55;ReadPosRankSum=-1.161;VQSLOD=3.7419;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,73:130:99:1922,0,1505 11 4945229 4945229 G A exonic OR51G1 nonsynonymous SNV OR51G1:NM_001005237:exon1:c.C341T:p.S114L 0.072 0.013 0.019 0.22 0.067 0.044 0.0639 0.0136 0.0199 0.2392 0.0886 0.0582 0.0661 0.0479 0.04 0.015 0.053 0.043 0.041 rs10836954 COSM3752410 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D 0.002 0.365 U 1.000 0.090 P 2.29 0.655 M 2.17 0.190 T -5.84 0.884 D 0.194 0.267 -1.097 0.044 T 0.000 0.000 T . . . 3.989 0.536 23.6 0.998 0.892 0.100 0.154 N c 0.106 -0.120 0.000 0.044 0.487 0.133 0 4.2 0.486 0.946 0.285 1.041 0.660 0.002 0.151 0.011 0.114 11.335 0.485 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000167346.3 Testis 0.0633 0.0144 0.0196 0.0689 0.2409 0.0858 0.0558 0.0551 0.0463 0.0588 0.0155 0.0286 0.0596 0.2419 0.0930 0.0577 0.0652 het 1793.27 148 11 4945229 . G A 1793.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.160;DP=148;Dels=0.00;FS=3.946;HRun=1;HaplotypeScore=2.8534;MQ=59.69;MQ0=0;MQRankSum=1.457;QD=12.12;ReadPosRankSum=-1.085;VQSLOD=5.6820;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,69:148:99:1823,0,2243 11 4967468 4967468 G A exonic OR51A4 nonsynonymous SNV OR51A4:NM_001005329:exon1:c.C863T:p.T288M 0.85 0.8 0.91 0.91 0.84 0.82 0.8493 0.7872 0.9278 0.9012 0.8103 0.8491 0.8381 0.8233 0.83 0.8 0.85 0.73 0.88 rs28698374 . . . . . . . . . . . . . 1.0 0.010 T 0.005 0.119 B 0.003 0.080 B . . . 0.000 0.588 P -2.84 0.000 N 1.23 0.369 T 4.45 0.000 N 0.032 0.012 -0.996 0.311 T 0.000 0.000 T . . . 0.809 0.171 9.522 0.883 0.173 0.004 0.021 N c -1.252 -1.031 0.000 0.058 0.487 0.133 0 3.26 0.363 6.194 0.718 0.126 0.213 0.930 0.320 0.013 0.120 7.685 0.275 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8529 0.7833 0.9237 0.8398 0.9013 0.8130 0.8509 0.8525 0.8245 0.8282 0.7810 0.9127 0.8344 0.8970 0.8143 0.8467 0.8218 hom 5668.36 196 11 4967468 . G A 5668.36 Mask AC=2;AF=1.00;AN=2;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9092;MQ=51.84;MQ0=0;QD=28.92;VQSLOD=3.0937;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,195:196:99:5667,448,0 11 4976086 4976086 C T exonic OR51A2 synonymous SNV OR51A2:NM_001004748:exon1:c.G858A:p.P286P 0.79 0.73 0.85 0.88 0.75 0.76 0.6858 0.6471 0.8384 0.8007 0.5558 0.6515 0.6344 0.7254 0.7 0.68 0.71 0.61 0.42 rs2570572 COSM3752413 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6938 0.6361 0.8239 0.6507 0.8011 0.5723 0.6602 0.6803 0.7314 0.6826 0.6737 0.8333 0.6747 0.8302 0.6272 0.6778 0.6538 hom 3586.35 129 11 4976086 . C T 3586.35 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=52.09;MQ0=1;QD=27.80;VQSLOD=3.0933;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3586,289,0 11 5020416 5020416 A G exonic OR51L1 synonymous SNV OR51L1:NM_001004755:exon1:c.A204G:p.L68L 0.83 0.88 0.83 0.67 0.87 0.87 0.8348 0.8555 0.7809 0.6893 0.7999 0.8571 0.8337 0.8593 0.85 0.85 0.85 0.86 0.88 rs2445290 COSM3998439 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8297 0.8543 0.7844 0.8978 0.6826 0.7965 0.8538 0.8481 0.8607 0.8333 0.8497 0.7959 0.8543 0.7064 0.7968 0.8466 0.8493 het 4035.79 242 11 5020416 . A G 4035.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.221;DP=242;Dels=0.00;FS=5.206;HRun=1;HaplotypeScore=3.4954;MQ=59.02;MQ0=0;MQRankSum=0.537;QD=16.68;ReadPosRankSum=-1.307;VQSLOD=4.8176;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:120,122:242:99:3424,0,3193 11 5079946 5079946 C T exonic OR52E2 synonymous SNV OR52E2:NM_001005164:exon1:c.G912A:p.V304V 0.9 0.9 0.95 0.77 0.94 0.97 0.9361 0.8995 0.9098 0.7844 0.9582 0.9604 0.9413 0.9559 0.94 0.89 0.96 0.88 0.97 rs2445332 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9378 0.9027 0.9188 0.9273 0.7886 0.9625 0.9627 0.9401 0.9587 0.9401 0.9070 0.9318 0.9404 0.7701 0.9637 0.9716 0.9552 hom 3373.16 112 11 5079946 . C T 3373.16 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.97;MQ0=0;QD=30.12;VQSLOD=8.4188;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3373,259,0 11 5080844 5080844 T C exonic OR52E2 nonsynonymous SNV OR52E2:NM_001005164:exon1:c.A14G:p.N5S 0.31 0.19 0.35 0.38 0.32 0.35 0.3369 0.2214 0.3231 0.3760 0.3572 0.3397 0.3656 0.3869 0.31 0.22 0.35 0.32 0.34 rs16909440 COSM3752421 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(skin);1(large_intestine) . . . . . . . . . . . 0.019 0.501 D 0.963 0.537 D 0.601 0.490 P 0.000 0.513 D 0.947 0.266 P 1.945 0.524 M -0.07 0.638 T -3.78 0.715 D 0.103 0.107 -0.983 0.343 T 0.000 0.000 T . . . 2.953 0.415 22.1 0.994 0.622 0.232 0.218 N c -0.120 -0.314 0.000 0.052 0.487 0.133 0 3.61 0.403 1.249 0.322 1.049 0.752 0.214 0.242 0.125 0.198 7.002 0.238 . . . 0.3376 0.2215 0.3248 0.3298 0.3785 0.3563 0.3435 0.3339 0.3569 0.3168 0.2180 0.3230 0.3675 0.3538 0.3653 0.3563 0.3344 hom 3117.86 107 11 5080844 . T C 3117.86 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=1;QD=29.14;VQSLOD=8.7785;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,106:107:99:3151,235,0 11 5172786 5172786 A G exonic OR52A1 nonsynonymous SNV OR52A1:NM_012375:exon1:c.T814C:p.S272P 0.97 0.89 0.98 1. 1. 1. 0.9912 0.9053 0.9952 0.9999 1 0.9997 0.9967 0.9998 0.97 0.91 1. 0.98 0.98 rs10768611 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 1 0.090 P -1.845 0.003 N 8.41 0.003 T 4.12 0.001 N 0.032 0.012 -0.951 0.409 T 0.000 0.000 T . . . 0.431 0.135 6.882 0.086 0.001 0.004 0.018 N c -1.196 -1.011 1.000 0.454 0.554 0.283 0 4.33 0.509 0.331 0.193 0.138 0.222 0.000 0.063 0.541 0.278 7.010 0.239 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9930 0.9031 0.9947 0.9999 0.9999 1 0.9997 0.9951 0.9997 0.9718 0.9014 0.9964 1 1 1 0.9995 0.9969 hom 2756.63 81 11 5172786 . A G 2756.63 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9159;MQ=58.36;MQ0=0;QD=34.03;VQSLOD=8.6708;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2790,220,0 11 5221645 5221645 C A exonic OR51V1 nonsynonymous SNV OR51V1:NM_001004760:exon1:c.G286T:p.G96W 0.32 0.27 0.44 0.17 0.47 0.32 0.4047 0.2761 0.3552 0.1925 0.4637 0.4633 0.4736 0.3665 0.6 0.39 0.71 0.3 0.45 rs11512276 COSM4145805 1(thyroid) . . . . . . . . . . . 0.069 0.355 T 1.0 0.899 D 0.999 0.916 D 0.059 0.223 N 0.998 0.224 P 1.695 0.435 L 5.33 0.011 T 0.48 0.030 N 0.305 0.365 -1.055 0.130 T 0.000 0.000 T . . . 5.477 0.744 26.2 0.992 0.543 0.130 0.174 N c 0.107 -0.050 0.078 0.158 0.487 0.133 0 3.64 0.407 0.152 0.160 0.068 0.175 0.000 0.063 0.187 0.214 5.075 0.139 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4086 0.2733 0.3715 0.5260 0.1970 0.4633 0.4594 0.4359 0.3691 0.3970 0.2849 0.3998 0.5430 0.2032 0.4607 0.4644 0.4047 hom 2044.16 123 11 5221645 . C A 2044.16 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8348;MQ=59.60;MQ0=0;QD=16.62;VQSLOD=5.7671;culprit=QD;set=variant GT:AD:DP:GQ:PL 1/1:1,66:123:99:2077,168,0 11 5221825 5221825 G A exonic OR51V1 nonsynonymous SNV OR51V1:NM_001004760:exon1:c.C106T:p.L36F 0.6 0.51 0.66 0.49 0.82 0.55 0.7220 0.5397 0.5809 0.4922 0.7738 0.8253 0.7775 0.6147 0.73 0.54 0.83 0.62 0.59 rs11036212 COSM4999173 1(pancreas) . . . . . . . . . . . 0.096 0.310 T 0.001 0.067 B 0.005 0.104 B 0.900 0.086 N 1 0.090 P 1.725 0.447 L 6.64 0.005 T -1.79 0.422 N 0.033 0.013 -0.968 0.377 T 0.000 0.000 T . . . -0.204 0.076 1.074 0.803 0.127 0.007 0.029 N c -2.070 -2.215 1.000 0.408 0.487 0.133 0 -9.76 0.004 -3.761 0.004 -2.120 0.004 0.000 0.063 0.002 0.062 5.556 0.163 . . . 0.7231 0.5339 0.5961 0.8693 0.4951 0.7794 0.825 0.7653 0.6195 0.7127 0.5389 0.6352 0.8841 0.4957 0.7784 0.8187 0.7673 hom 5440.49 172 11 5221825 . G A 5440.49 Mask AC=2;AF=1.00;AN=2;DP=172;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.4140;MQ=59.65;MQ0=0;QD=31.63;VQSLOD=8.2590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:172:99:5440,448,0 11 5248243 5248243 A G exonic HBB synonymous SNV HBB:NM_000518:exon1:c.T9C:p.H3H 0.71 0.88 0.73 0.5 0.83 0.57 0.7671 0.8693 0.6442 0.4963 0.7869 0.8380 0.7896 0.6338 0.85 0.86 0.84 0.76 0.82 rs713040 . . Benign|Benign|Benign|Benign\x2cother not_specified|Fetal_hemoglobin_quantitative_trait_locus_1|beta_Thalassemia|Hb_SS_disease\x2cHEMOGLOBIN_OKAYAMA RCV000173144.2|RCV000271089.1|RCV000328523.1|RCV000362141.1\x2cRCV000016529.2 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT\x2c. CN169374|C1841621:141749|C0005283:613985:ORPHA848:65959000|C0002895:603903:ORPHA232:127040003\x2c. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7630 0.8684 0.6583 0.8665 0.4984 0.7894 0.8398 0.7919 0.6378 0.8159 0.8694 0.6874 0.9040 0.5 0.7891 0.8315 0.7990 hom 5160.93 161 11 5248243 . A G 5160.93 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=59.70;MQ0=0;QD=32.06;VQSLOD=8.9179;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:5160,400,0 11 5322520 5322520 G A exonic OR51B4 synonymous SNV OR51B4:NM_033179:exon1:c.C657T:p.L219L 0.2 0.14 0.27 0.15 0.26 0.22 0.2549 0.1463 0.3515 0.1410 0.2237 0.2786 0.2566 0.2330 0.23 0.14 0.28 0.18 0.29 rs12283334 COSM3998446 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2584 0.1426 0.3373 0.2359 0.1444 0.2270 0.2844 0.2548 0.2301 0.2284 0.1512 0.3186 0.2252 0.1309 0.2228 0.2789 0.2480 het 1412.04 84 11 5322520 . G A 1412.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.671;DP=84;Dels=0.00;FS=4.484;HRun=1;HaplotypeScore=2.9957;MQ=59.56;MQ0=0;MQRankSum=-1.267;QD=16.61;ReadPosRankSum=-1.515;VQSLOD=4.4181;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,52:84:99:1442,0,819 11 5323071 5323071 C T exonic OR51B4 nonsynonymous SNV OR51B4:NM_033179:exon1:c.G106A:p.V36I 0.68 0.42 0.74 0.88 0.69 0.78 0.7138 0.4568 0.8156 0.8790 0.6289 0.7091 0.7472 0.7691 0.62 0.46 0.71 0.67 0.81 rs7118113 COSM4145808 1(thyroid) . . . . . . . . . . . 0.764 0.034 T 0.004 0.112 B 0.004 0.093 B 0.121 0.190 N 1 0.090 P -0.545 0.025 N 8.62 0.002 T -0.5 0.158 N 0.039 0.022 -0.898 0.482 T 0.000 0.000 T . . . 0.133 0.106 3.964 0.429 0.032 0.004 0.021 N c -1.500 -1.467 0.005 0.107 0.487 0.133 0 0.647 0.169 -2.480 0.011 -0.245 0.091 0.000 0.063 0.001 0.043 4.018 0.091 . . . 0.7179 0.4441 0.8064 0.6924 0.8862 0.6308 0.7075 0.7332 0.7697 0.6217 0.4497 0.7864 0.6887 0.8883 0.6261 0.6770 0.6820 het 1996.38 157 11 5323071 . C T 1996.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.577;DP=157;Dels=0.00;FS=2.018;HRun=0;HaplotypeScore=1.5592;MQ=59.41;MQ0=0;MQRankSum=-0.868;QD=12.72;ReadPosRankSum=-0.337;VQSLOD=6.5979;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,77:157:99:2026,0,2106 11 5344681 5344681 G A exonic OR51B2 nonsynonymous SNV OR51B2:NM_033180:exon1:c.C847T:p.P283S 0.26 0.29 0.3 0.22 0.29 0.24 0.2721 0.2928 0.2659 0.2137 0.2664 0.2842 0.2742 0.2477 0.29 0.3 0.29 0.27 0.31 rs11036815 COSM3752427 1(skin);1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 1.0 0.899 D 1.0 0.971 D 0.002 0.381 U 1e-37 0.810 P 3.11 0.880 M 8.08 0.003 T -7.55 0.952 D 0.342 0.403 -0.721 0.594 T 0.000 0.000 T . . . 5.927 0.814 27.6 0.999 0.960 0.962 0.678 D c 0.678 0.573 1.000 0.500 0.487 0.133 0 4.38 0.519 1.698 0.372 1.032 0.654 0.996 0.391 0.013 0.120 15.860 0.787 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2733 0.2954 0.2713 0.3315 0.2151 0.2698 0.2812 0.2890 0.2494 0.2736 0.2916 0.2907 0.3367 0.2125 0.2670 0.2689 0.2755 het 1369.47 106 11 5344681 . G A 1369.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.808;DP=106;Dels=0.00;FS=3.645;HRun=1;HaplotypeScore=0.8667;MQ=58.90;MQ0=0;MQRankSum=-0.250;QD=12.92;ReadPosRankSum=0.433;VQSLOD=6.2821;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,52:106:99:1399,0,1396 11 5344772 5344772 T C exonic OR51B2 synonymous SNV OR51B2:NM_033180:exon1:c.A756G:p.T252T 0.76 0.78 0.77 0.54 0.91 0.78 0.8412 0.7992 0.7064 0.5197 0.9018 0.9149 0.8645 0.8061 0.88 0.81 0.91 0.73 0.93 rs10742622 COSM3998447 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8364 0.8009 0.7204 0.8937 0.5140 0.8986 0.9140 0.8694 0.8114 0.8520 0.8056 0.7697 0.8933 0.5043 0.9050 0.9055 0.8880 hom 2565.19 88 11 5344772 . T C 2565.19 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.493;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=-1.493;QD=29.15;ReadPosRankSum=-0.139;VQSLOD=8.0045;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,87:88:99:2598,196,0 11 5344847 5344847 A G exonic OR51B2 synonymous SNV OR51B2:NM_033180:exon1:c.T681C:p.A227A 0.76 0.78 0.77 0.54 0.91 0.78 0.8412 0.7996 0.7062 0.5194 0.9017 0.9149 0.8642 0.8062 0.88 0.81 0.91 0.73 0.91 rs10768793 COSM3998448 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8364 0.8009 0.7201 0.8935 0.5135 0.8988 0.9141 0.8697 0.8116 0.8522 0.8054 0.7697 0.8940 0.5062 0.9053 0.9055 0.8880 hom 1577.04 46 11 5344847 . A G 1577.04 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.28;VQSLOD=14.4315;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1610,123,0 11 5344902 5344902 C G exonic OR51B2 nonsynonymous SNV OR51B2:NM_033180:exon1:c.G626C:p.C209S 0.76 0.78 0.77 0.54 0.91 0.78 0.8412 0.7993 0.7064 0.5192 0.9020 0.9148 0.8645 0.8062 0.88 0.81 0.91 0.73 0.88 rs7937237 COSM3998449 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.039 0.243 N 1 0.090 P -1.855 0.003 N 1.23 0.369 T 2.41 0.003 N 0.011 0.001 -1.003 0.290 T 0.000 0.000 T . . . -2.099 0.007 0.001 0.629 0.069 0.005 0.022 N c -1.751 -1.664 0.001 0.074 0.487 0.133 0 -0.95 0.098 -1.201 0.031 -0.795 0.032 0.000 0.063 0.000 0.016 6.553 0.215 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8364 0.8007 0.7203 0.8937 0.5135 0.8987 0.9141 0.8694 0.8115 0.8525 0.8053 0.7697 0.8940 0.5075 0.9052 0.9058 0.8878 hom 1080.05 33 11 5344902 . C G 1080.05 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=32.73;VQSLOD=9.3237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:33:87.27:1113,87,0 11 5345128 5345128 G A exonic OR51B2 nonsynonymous SNV OR51B2:NM_033180:exon1:c.C400T:p.L134F 0.44 0.34 0.46 0.32 0.61 0.53 0.5445 0.3672 0.4337 0.3051 0.6027 0.6161 0.5683 0.5448 0.53 0.37 0.61 0.39 0.58 rs10837814 COSM3998450 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.006 0.614 D 0.991 0.622 D 0.918 0.636 D 0.329 0.141 U 0.000 0.810 P 2.2 0.622 M 1.92 0.231 T -3.49 0.680 D 0.261 0.318 -0.937 0.432 T 0.000 0.000 T . . . 2.428 0.353 19.00 0.998 0.896 0.324 0.244 N c 0.112 -0.117 0.004 0.103 0.487 0.133 0 3.35 0.373 0.485 0.219 0.081 0.190 0.138 0.233 0.009 0.108 12.223 0.536 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5412 0.3666 0.4408 0.5580 0.2977 0.5946 0.6177 0.5671 0.5496 0.5229 0.3711 0.4702 0.54 0.2877 0.6009 0.6173 0.5776 het 1687.28 135 11 5345128 . G A 1687.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.907;DP=135;Dels=0.00;FS=3.059;HRun=2;HaplotypeScore=6.1757;MQ=59.13;MQ0=0;MQRankSum=-1.638;QD=12.50;ReadPosRankSum=-0.717;VQSLOD=4.1617;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,65:135:99:1717,0,1904 11 5345170 5345170 A G exonic OR51B2 nonsynonymous SNV OR51B2:NM_033180:exon1:c.T358C:p.C120R 0.76 0.79 0.77 0.54 0.91 0.78 0.8414 0.8004 0.7065 0.5199 0.9019 0.9150 0.8642 0.8063 0.88 0.81 0.91 0.73 0.93 rs7952293 COSM3998451 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.381 N 0.002 0.443 P -2.17 0.001 N 3.55 0.048 T 7.21 0.000 N 0.029 0.010 -1.038 0.180 T 0.000 0.000 T . . . -1.123 0.028 0.009 0.718 0.095 0.005 0.022 N c -1.566 -1.383 0.001 0.079 0.487 0.133 0 2.36 0.281 0.824 0.268 -0.271 0.086 0.001 0.137 0.001 0.043 6.604 0.218 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8363 0.8020 0.7203 0.8934 0.5137 0.8986 0.9142 0.8698 0.8114 0.8526 0.8061 0.7697 0.8940 0.5069 0.9053 0.9056 0.8890 hom 3823.23 120 11 5345170 . A G 3823.23 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=31.86;VQSLOD=9.6667;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3822,325,0 11 5345486 5345486 G A exonic OR51B2 synonymous SNV OR51B2:NM_033180:exon1:c.C42T:p.G14G 0.76 0.78 0.77 0.54 0.91 0.78 0.8414 0.7999 0.7055 0.5191 0.9020 0.9149 0.8625 0.8074 0.88 0.81 0.91 0.73 0.89 rs4910750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8343 0.7995 0.7167 0.8919 0.5115 0.8984 0.9127 0.8669 0.8070 0.8512 0.8051 0.7697 0.8940 0.5050 0.9019 0.9048 0.8883 hom 2477.05 77 11 5345486 . G A 2477.05 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.9681;MQ=59.13;MQ0=0;QD=32.17;VQSLOD=5.5111;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,76:77:99:2510,217,0 11 5364276 5364276 G A exonic OR51B5 nonsynonymous SNV OR51B5:NM_001005567:exon5:c.C479T:p.P160L 0.32 0.26 0.4 0.18 0.44 0.39 0.4130 0.2790 0.4136 0.1668 0.4936 0.4620 0.3836 0.3959 0.39 0.28 0.45 0.33 0.45 rs4910551 COSM4419467 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.976 0.020 T 0.589 0.371 P 0.507 0.460 P 0.031 0.253 N 1.000 0.090 P -1.73 0.003 N 5.75 0.007 T 0.67 0.023 N 0.103 0.107 -1.034 0.193 T 0.000 0.000 T . . . -1.285 0.022 0.005 0.709 0.091 0.020 0.059 N c -1.053 -1.035 0.225 0.184 0.487 0.133 0 1.66 0.230 -0.534 0.062 0.076 0.183 0.000 0.063 0.010 0.111 1.224 0.018 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000167355.3|ENSG00000167355.3|ENSG00000167355.3|ENSG00000242180.2 Nerve_Tibial|Testis|Thyroid|Thyroid 0.4103 0.2714 0.4080 0.3959 0.1653 0.4913 0.4576 0.4006 0.3959 0.3891 0.2616 0.3909 0.3467 0.1727 0.4860 0.4610 0.4439 hom 2511.99 74 11 5364276 . G A 2511.99 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.69;MQ0=0;QD=33.95;VQSLOD=9.6079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2545,202,0 11 5364450 5364450 A G exonic OR51B5 nonsynonymous SNV OR51B5:NM_001005567:exon5:c.T305C:p.I102T 0.33 0.26 0.4 0.18 0.44 0.39 0.4139 0.2790 0.4142 0.1677 0.4942 0.4626 0.3830 0.3987 0.39 0.28 0.45 0.33 0.46 rs11036912 COSM4145809 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.0 0.912 D 0.991 0.622 D 0.881 0.608 P 0.000 0.447 D 0.000 0.588 P 2.555 0.748 M 3.99 0.033 T -4.77 0.804 D 0.256 0.312 -0.910 0.469 T 0.000 0.000 T . . . 5.357 0.725 25.9 0.998 0.903 0.579 0.302 D c 0.408 0.286 0.998 0.361 0.487 0.133 0 4.76 0.600 3.094 0.497 1.193 0.911 0.026 0.200 0.988 0.529 13.295 0.596 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000167355.3|ENSG00000167355.3|ENSG00000167355.3|ENSG00000242180.2 Nerve_Tibial|Testis|Thyroid|Thyroid 0.4111 0.272 0.4081 0.3959 0.1653 0.4919 0.4585 0.4016 0.3984 0.3895 0.2630 0.3911 0.3510 0.1745 0.4868 0.4607 0.4433 hom 2896.20 89 11 5364450 . A G 2896.20 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;QD=32.54;VQSLOD=9.7700;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2929,229,0 11 5372856 5372856 A G exonic OR51B6 nonsynonymous SNV OR51B6:NM_001004750:exon1:c.A119G:p.N40S 0.15 0.23 0.16 0.019 0.21 0.12 0.1667 0.2110 0.1089 0.0088 0.1972 0.1983 0.1465 0.1228 0.21 0.2 0.21 0.2 0.2 rs4910756 . . . . . . . . . . . . . 0.008 0.586 D 0.494 0.352 P 0.35 0.410 B 0.000 0.559 D 0.000 0.810 P 3.46 0.925 M -0.94 0.753 T -4.43 0.775 D 0.285 0.344 -0.975 0.362 T 0.001 0.003 T . . . 3.878 0.523 23.5 0.998 0.857 0.979 0.779 D c 0.453 0.431 0.965 0.287 0.487 0.133 0 4.02 0.458 7.205 0.772 1.195 0.918 1.000 0.715 0.998 0.697 9.858 0.401 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000167355.3 Testis 0.1642 0.2159 0.1169 0.1492 0.0093 0.1949 0.2015 0.1588 0.1251 0.1977 0.2109 0.1307 0.1523 0.0099 0.2026 0.2128 0.2122 het 1461.18 93 11 5372856 . A G 1461.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.683;DP=93;Dels=0.00;FS=10.592;HRun=0;HaplotypeScore=1.9985;MQ=58.24;MQ0=0;MQRankSum=-0.274;QD=15.71;ReadPosRankSum=-0.336;VQSLOD=4.2362;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,51:93:99:1491,0,1123 11 5372881 5372881 G A exonic OR51B6 synonymous SNV OR51B6:NM_001004750:exon1:c.G144A:p.R48R 0.11 0.03 0.16 0.075 0.15 0.15 0.1466 0.0531 0.2052 0.0821 0.1442 0.1587 0.1421 0.1504 0.12 0.055 0.15 0.14 0.16 rs77135024 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1473 0.0508 0.1967 0.0903 0.0813 0.1407 0.1608 0.1433 0.1529 0.1237 0.0513 0.1930 0.09 0.0932 0.1468 0.1598 0.1344 het 1045.31 97 11 5372881 . G A 1045.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.292;DP=97;Dels=0.00;FS=6.722;HRun=2;HaplotypeScore=0.9159;MQ=58.56;MQ0=0;MQRankSum=2.623;QD=10.78;ReadPosRankSum=1.071;VQSLOD=3.3519;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,39:97:99:1075,0,1632 11 5373006 5373006 T C exonic OR51B6 nonsynonymous SNV OR51B6:NM_001004750:exon1:c.T269C:p.I90T 0.23 0.33 0.23 0.086 0.26 0.23 0.2396 0.3097 0.2142 0.0614 0.2605 0.2564 0.2214 0.2308 0.27 0.29 0.26 0.25 0.25 rs7483122 COSM5618436 1(breast) . . . . . . . . . . . 0.009 0.574 D 0.447 0.342 B 0.178 0.341 B 0.000 0.537 D 1e-37 0.810 P 3.435 0.922 M 6.27 0.006 T -4.66 0.794 D 0.433 0.488 -1.046 0.156 T 0.000 0.000 T . . . 2.340 0.342 18.43 0.986 0.435 0.962 0.678 D c 0.346 0.334 1.000 0.480 0.487 0.133 0 5.01 0.663 1.102 0.305 1.058 0.762 0.001 0.137 0.965 0.450 13.684 0.618 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2379 0.3147 0.2178 0.2531 0.0603 0.2612 0.2576 0.2251 0.2301 0.2620 0.3112 0.2081 0.25 0.0587 0.2636 0.2579 0.2678 het 1551.88 100 11 5373006 . T C 1551.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.505;DP=100;Dels=0.00;FS=11.938;HRun=0;HaplotypeScore=1.8650;MQ=57.66;MQ0=0;MQRankSum=-1.282;QD=15.52;ReadPosRankSum=-0.988;VQSLOD=2.8694;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,58:100:99:1582,0,1119 11 5373104 5373104 A G exonic OR51B6 nonsynonymous SNV OR51B6:NM_001004750:exon1:c.A367G:p.T123A 0.23 0.33 0.23 0.086 0.26 0.23 0.2370 0.3047 0.2107 0.0608 0.2579 0.2536 0.2214 0.2302 0.27 0.28 0.26 0.25 0.23 rs5006889 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 0.000 0.810 P -4.105 0.000 N 1.84 0.247 T 3.77 0.001 N 0.094 0.094 -0.938 0.430 T 0.000 0.000 T . . . -1.082 0.029 0.011 0.527 0.047 0.068 0.127 N c -1.121 -0.768 0.876 0.255 0.487 0.133 0 5.01 0.663 5.817 0.687 0.136 0.221 1.000 0.715 0.978 0.483 12.538 0.553 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2366 0.3118 0.2166 0.2523 0.0601 0.2598 0.2561 0.2242 0.2300 0.2600 0.3081 0.2105 0.2550 0.0586 0.2635 0.2557 0.2653 het 1234.40 89 11 5373104 . A G 1234.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.978;DP=89;Dels=0.00;FS=4.058;HRun=0;HaplotypeScore=2.8502;MQ=54.02;MQ0=0;MQRankSum=-1.949;QD=13.87;ReadPosRankSum=-0.349;VQSLOD=2.4187;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,44:89:99:1264,0,1227 11 5373114 5373114 G A exonic OR51B6 nonsynonymous SNV OR51B6:NM_001004750:exon1:c.G377A:p.S126N 0.61 0.59 0.57 0.54 0.61 0.72 0.6025 0.5914 0.5732 0.5250 0.5518 0.5949 0.6024 0.7217 0.59 0.58 0.59 0.63 0.59 rs5006888 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.428 N 0.842 0.286 P -1.945 0.002 N 6.75 0.005 T 2.48 0.002 N 0.041 0.021 -1.049 0.147 T 0.000 0.000 T . . . -2.257 0.005 0.001 0.502 0.043 0.010 0.038 N c -1.525 -1.385 0.010 0.119 0.487 0.133 0 2.67 0.306 1.311 0.329 -0.153 0.108 0.000 0.063 0.793 0.334 4.973 0.134 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000167355.3 Testis 0.6009 0.5952 0.5769 0.6071 0.5243 0.5543 0.5967 0.5913 0.7215 0.5832 0.5941 0.5632 0.5728 0.5260 0.5687 0.5876 0.5842 hom 2872.36 86 11 5373114 . G A 2872.36 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7809;MQ=52.77;MQ0=0;QD=33.40;VQSLOD=3.8130;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2905,244,0 11 5373242 5373242 T G exonic OR51B6 nonsynonymous SNV OR51B6:NM_001004750:exon1:c.T505G:p.S169A 0.24 0.34 0.24 0.086 0.27 0.23 0.2400 0.3172 0.2141 0.0613 0.2587 0.2565 0.2247 0.23 0.28 0.3 0.27 0.25 0.25 rs5006885 . . . . . . . . . . . . . 0.036 0.433 D 0.995 0.657 D 0.912 0.630 D 0.015 0.285 N 0.329 0.331 P 1.68 0.433 L 8.71 0.001 T -2.04 0.468 N 0.136 0.157 -0.851 0.519 T 0.000 0.000 T . . . 0.426 0.135 6.837 0.992 0.544 0.081 0.139 N c -0.151 -0.308 0.045 0.146 0.487 0.133 0 2.77 0.315 -1.334 0.028 1.058 0.762 0.000 0.063 0.252 0.228 9.095 0.356 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2388 0.3220 0.2203 0.2610 0.0602 0.2604 0.2575 0.2285 0.2288 0.2637 0.3179 0.2110 0.2583 0.0588 0.2637 0.2572 0.2663 het 1328.89 149 11 5373242 . T G 1328.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.458;DP=149;Dels=0.00;FS=0.652;HRun=0;HaplotypeScore=4.8119;MQ=57.58;MQ0=0;MQRankSum=1.725;QD=8.92;ReadPosRankSum=-0.183;VQSLOD=4.4241;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,55:149:99:1359,0,2584 11 5373251 5373251 C T exonic OR51B6 nonsynonymous SNV OR51B6:NM_001004750:exon1:c.C514T:p.L172F 0.23 0.33 0.23 0.086 0.26 0.23 0.2382 0.3072 0.2115 0.0614 0.2587 0.2552 0.2214 0.2301 0.27 0.29 0.26 0.25 0.25 rs5006884 . . . . . . . Fetal hemoglobin levels . .16 20018918 rs5006884 3E-8 0.005 0.632 D 0.996 0.670 D 0.984 0.745 D 0.001 0.436 D 0.000 0.537 P 3.535 0.933 H 8.69 0.001 T -3.9 0.729 D 0.19 0.232 -0.939 0.428 T 0.000 0.000 T . . . 3.933 0.530 23.5 0.998 0.922 0.140 0.180 N c 0.130 -0.080 0.065 0.154 0.487 0.133 0 3.27 0.364 -0.668 0.053 0.932 0.445 0.000 0.063 0.578 0.284 9.158 0.360 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2371 0.3126 0.2172 0.2515 0.0603 0.2605 0.2569 0.2247 0.2293 0.2605 0.3074 0.2081 0.2567 0.0587 0.2637 0.2569 0.2663 het 1298.65 160 11 5373251 . C T 1298.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.153;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=57.75;MQ0=0;MQRankSum=1.536;QD=8.12;ReadPosRankSum=0.809;VQSLOD=6.1947;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:103,57:160:99:1329,0,2847 11 5373311 5373311 T C exonic OR51B6 nonsynonymous SNV OR51B6:NM_001004750:exon1:c.T574C:p.F192L 0.23 0.33 0.23 0.086 0.26 0.23 0.2393 0.3096 0.2133 0.0613 0.2606 0.2562 0.2214 0.2304 0.22 0.22 0.22 0.2 0.25 rs5006883 . . . . . . . . . . . . . 0.072 0.349 T 1.0 0.899 D 0.999 0.916 D 0.000 0.559 D 0.000 0.588 P 1.525 0.387 L 9.02 0.000 T -3.39 0.669 D 0.267 0.324 -0.902 0.478 T 0.000 0.000 T . . . 1.425 0.234 12.92 0.998 0.899 0.103 0.157 N c 0.149 0.072 0.378 0.199 0.487 0.133 0 5.15 0.702 -1.617 0.021 1.058 0.762 0.000 0.063 0.895 0.377 5.361 0.153 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000167355.3 Testis 0.2379 0.3147 0.2177 0.2530 0.0602 0.2613 0.2576 0.2252 0.2302 0.2620 0.3111 0.2081 0.2550 0.0586 0.2637 0.2578 0.2678 het 993.36 137 11 5373311 . T C 993.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.282;DP=137;Dels=0.00;FS=4.635;HRun=2;HaplotypeScore=5.7094;MQ=58.61;MQ0=0;MQRankSum=-0.566;QD=7.25;ReadPosRankSum=-0.798;VQSLOD=3.3869;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,40:137:99:1023,0,2730 11 5373334 5373334 A G exonic OR51B6 synonymous SNV OR51B6:NM_001004750:exon1:c.A597G:p.V199V 0.23 0.33 0.23 0.086 0.26 0.23 0.2392 0.3074 0.2141 0.0613 0.2607 0.2562 0.2214 0.2305 0.27 0.29 0.26 0.25 0.25 rs5006882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2378 0.3127 0.2178 0.2534 0.0603 0.2613 0.2577 0.2253 0.2302 0.2617 0.3100 0.2100 0.2567 0.0587 0.2637 0.2577 0.2684 het 859.16 113 11 5373334 . A G 859.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.963;DP=113;Dels=0.00;FS=3.909;HRun=1;HaplotypeScore=2.7809;MQ=59.22;MQ0=0;MQRankSum=-0.241;QD=7.60;ReadPosRankSum=-0.047;VQSLOD=5.4122;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,34:113:99:889,0,2353 11 5373497 5373497 G C exonic OR51B6 nonsynonymous SNV OR51B6:NM_001004750:exon1:c.G760C:p.V254L 0.11 0.03 0.16 0.075 0.15 0.15 0.1462 0.0531 0.2036 0.0835 0.1441 0.1581 0.1410 0.1503 0.12 0.055 0.15 0.14 0.16 rs7106330 COSM4145810 1(pancreas);1(thyroid) . . . . . . . . . . . 0.054 0.386 T 0.082 0.231 B 0.098 0.289 B 0.031 0.253 N 0.999 0.220 P 0.07 0.083 N 1.47 0.320 T -0.67 0.193 N 0.187 0.228 -1.065 0.104 T 0.000 0.000 T . . . 1.314 0.222 12.34 0.984 0.410 0.100 0.154 N c -0.596 -0.465 0.005 0.110 0.487 0.133 0 3.98 0.452 -0.288 0.083 1.045 0.669 0.000 0.063 0.981 0.494 5.133 0.142 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000167355.3 Thyroid 0.1468 0.0507 0.1951 0.0837 0.0826 0.1408 0.1607 0.1416 0.1529 0.1233 0.0512 0.1909 0.0894 0.0957 0.1469 0.1590 0.1316 het 2415.85 168 11 5373497 . G C 2415.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DP=168;Dels=0.00;FS=2.709;HRun=0;HaplotypeScore=2.9760;MQ=59.20;MQ0=0;MQRankSum=-1.315;QD=14.38;ReadPosRankSum=-0.928;VQSLOD=5.6273;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,82:168:99:2446,0,2409 11 5373562 5373562 C A exonic OR51B6 nonsynonymous SNV OR51B6:NM_001004750:exon1:c.C825A:p.S275R 0.23 0.33 0.23 0.086 0.26 0.22 0.2381 0.3074 0.2139 0.0614 0.2607 0.2563 0.2192 0.2224 0.27 0.29 0.26 0.25 0.25 rs5024042 . . . . . . . . . . . . . 0.016 0.518 D 1.0 0.899 D 1.0 0.971 D 0.000 0.481 D 0.000 0.588 P 3.47 0.926 M 8.4 0.003 T -3.03 0.627 D 0.271 0.329 -0.919 0.458 T 0.000 0.000 T . . . 5.090 0.686 25.3 0.997 0.817 0.163 0.191 N c 0.098 -0.073 0.001 0.082 0.487 0.133 0 2.3 0.276 0.132 0.156 -0.869 0.028 0.000 0.063 0.579 0.285 9.058 0.354 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2367 0.3126 0.2176 0.2530 0.0603 0.2611 0.2575 0.2245 0.2224 0.2614 0.3096 0.2100 0.2517 0.0582 0.2633 0.2576 0.2673 het 1462.92 162 11 5373562 . C A 1462.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.309;DP=162;Dels=0.00;FS=2.095;HRun=0;HaplotypeScore=3.5648;MQ=58.87;MQ0=0;MQRankSum=1.418;QD=9.03;ReadPosRankSum=-0.890;VQSLOD=5.7513;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,60:162:99:1493,0,3043 11 5373646 5373646 T C exonic OR51B6 synonymous SNV OR51B6:NM_001004750:exon1:c.T909C:p.R303R 0.6 0.58 0.57 0.55 0.61 0.72 0.6038 0.5865 0.5766 0.5294 0.5551 0.5975 0.6085 0.7195 0.59 0.58 0.6 0.62 0.61 rs5024041 COSM5037711 2(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6004 0.5896 0.5780 0.6066 0.5285 0.5534 0.5971 0.5912 0.7142 0.5832 0.5907 0.5656 0.5728 0.5248 0.5701 0.5891 0.5890 hom 3588.70 109 11 5373646 . T C 3588.70 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9723;MQ=58.45;MQ0=0;QD=32.92;VQSLOD=9.3845;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:109:99:3553,280,0 11 5410934 5410934 T G exonic OR51M1 nonsynonymous SNV OR51M1:NM_001004756:exon1:c.T306G:p.H102Q 0.7 0.68 0.73 0.55 0.82 0.72 0.7685 0.7060 0.6714 0.5122 0.8414 0.8240 0.7889 0.7524 0.8 0.74 0.83 0.65 . rs1498467 . . . . . . . . . . . . . 0.18 0.219 T . . . . . . 0.604 0.109 U 1 0.090 P 0.17 0.090 N 1.25 0.365 T 0.03 0.066 N 0.031 0.012 -1.026 0.219 T 0.000 0.000 T . . . -1.762 0.012 0.002 0.564 0.054 0.063 0.121 N c -1.179 -1.365 0.172 0.177 0.487 0.133 0 -4.44 0.033 -2.654 0.009 -0.719 0.036 0.000 0.063 0.000 0.016 2.974 0.055 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7690 0.7085 0.6820 0.8901 0.5101 0.8427 0.8214 0.7924 0.7529 0.7733 0.7202 0.6897 0.8874 0.5037 0.8413 0.8178 0.8031 het 4285.06 249 11 5410934 . T G 4285.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.713;DP=249;DS;Dels=0.00;FS=1.066;HRun=0;HaplotypeScore=8.7340;MQ=59.50;MQ0=0;MQRankSum=0.469;QD=17.21;ReadPosRankSum=-1.259;VQSLOD=3.7653;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,125:249:99:3616,0,3361 11 5411031 5411031 C T exonic OR51M1 nonsynonymous SNV OR51M1:NM_001004756:exon1:c.C403T:p.L135F 0.7 0.68 0.73 0.55 0.82 0.73 0.7684 0.7061 0.6712 0.5119 0.8415 0.8239 0.7882 0.7524 0.8 0.74 0.83 0.65 . rs1498468 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.064 0.220 N 0.000 0.588 P -1.82 0.003 N 1.32 0.352 T 5.02 0.000 N 0.043 0.023 -0.963 0.386 T 0.000 0.000 T . . . 0.278 0.121 5.479 0.593 0.060 0.050 0.107 N c -0.293 -0.254 0.899 0.260 0.487 0.133 0 5.05 0.674 5.110 0.642 0.152 0.238 0.828 0.299 0.215 0.221 7.469 0.263 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7688 0.7085 0.6816 0.8901 0.5098 0.8422 0.8212 0.7921 0.7528 0.7735 0.7198 0.6897 0.8874 0.5044 0.8414 0.8184 0.8020 het 4284.55 250 11 5411031 . C T 4284.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.664;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.1424;MQ=59.27;MQ0=0;MQRankSum=1.548;QD=17.14;ReadPosRankSum=0.700;VQSLOD=3.6627;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,129:250:99:3610,0,3499 11 5411239 5411239 T C exonic OR51M1 nonsynonymous SNV OR51M1:NM_001004756:exon1:c.T611C:p.I204T 0.71 0.74 0.73 0.55 0.82 0.73 0.7729 0.7567 0.6731 0.5119 0.8412 0.8243 0.7906 0.7525 0.81 0.78 0.83 0.69 . rs1498469 . . . . . . . . . . . . . 0.814 0.030 T . . . . . . 0.003 0.349 N 0.789 0.292 P -0.595 0.022 N 9.05 0.000 T 1.28 0.010 N 0.022 0.005 -1.027 0.214 T 0.000 0.000 T . . . -1.317 0.022 0.004 0.739 0.102 0.048 0.104 N c -0.704 -0.761 0.118 0.168 0.487 0.133 0 4.34 0.511 -0.775 0.047 0.069 0.176 0.000 0.063 0.008 0.104 9.343 0.371 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7721 0.7564 0.6840 0.8901 0.5098 0.8409 0.8216 0.7940 0.7529 0.7867 0.7658 0.6921 0.8874 0.5050 0.8415 0.8184 0.8045 het 2544.49 200 11 5411239 . T C 2544.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.039;DP=200;DS;Dels=0.00;FS=3.367;HRun=1;HaplotypeScore=6.2076;MQ=59.77;MQ0=0;MQRankSum=-0.683;QD=12.72;ReadPosRankSum=-0.864;VQSLOD=4.5188;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,92:200:99:2574,0,3081 11 5411395 5411395 C A exonic OR51M1 nonsynonymous SNV OR51M1:NM_001004756:exon1:c.C767A:p.P256H 0.71 0.74 0.73 0.54 0.82 0.73 0.7724 0.7547 0.6737 0.5052 0.8415 0.8244 0.7902 0.7523 0.81 0.78 0.83 0.69 . rs9783355 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.003 0.353 N 0.000 0.810 P -3.975 0.000 N 9.37 0.000 T 9.77 0.000 N 0.058 0.041 -1.077 0.080 T 0.000 0.000 T . . . 0.760 0.166 9.212 0.720 0.095 0.052 0.109 N c -0.104 -0.025 0.999 0.376 0.554 0.246 0 5.24 0.728 7.515 0.805 0.242 0.267 1.000 0.715 0.200 0.217 11.525 0.496 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7715 0.7543 0.6841 0.8902 0.5008 0.8418 0.8217 0.7940 0.7527 0.7850 0.7633 0.6926 0.8874 0.4950 0.8411 0.8175 0.8035 het 1947.45 132 11 5411395 . C A 1947.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.444;DP=132;Dels=0.00;FS=2.500;HRun=0;HaplotypeScore=0.9989;MQ=59.65;MQ0=0;MQRankSum=-1.254;QD=14.75;ReadPosRankSum=-0.833;VQSLOD=5.4092;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,73:132:99:1977,0,1612 11 5411398 5411398 T G exonic OR51M1 nonsynonymous SNV OR51M1:NM_001004756:exon1:c.T770G:p.L257R 0.36 0.34 0.32 0.31 0.38 0.44 0.3688 0.3398 0.3106 0.3151 0.3657 0.3720 0.3571 0.4439 0.36 0.33 0.37 0.35 . rs2736531 COSM3752433 1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.922 0.492 P 0.866 0.598 P 0.134 0.185 U 0.000 0.810 P 2.925 0.847 M 0.71 0.512 T -4.84 0.810 D 0.359 0.420 -1.025 0.221 T 0.000 0.000 T . . . 5.430 0.736 26.1 0.997 0.810 0.909 0.523 D c 0.517 0.475 0.992 0.328 0.554 0.246 0 5.24 0.728 8.017 0.886 1.061 0.807 0.984 0.356 0.742 0.319 14.097 0.644 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3685 0.3435 0.3202 0.4340 0.312 0.3693 0.3699 0.3610 0.4403 0.3580 0.3400 0.3074 0.3974 0.2963 0.3737 0.3718 0.3829 het 1871.09 128 11 5411398 . T G 1871.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.385;DP=128;Dels=0.00;FS=1.625;HRun=0;HaplotypeScore=0.9989;MQ=59.64;MQ0=0;MQRankSum=-0.665;QD=14.62;ReadPosRankSum=-0.133;VQSLOD=6.6541;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,69:128:99:1901,0,1456 11 5411579 5411579 G A exonic OR51M1 synonymous SNV OR51M1:NM_001004756:exon1:c.G951A:p.K317K 0.71 0.74 0.73 0.55 0.82 0.73 0.7775 0.7618 0.6842 0.5324 0.8385 0.8226 0.7890 0.7612 0.81 0.78 0.83 . . rs10768906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7681 0.7528 0.6805 0.8888 0.5055 0.8400 0.8167 0.7933 0.7506 0.7846 0.7634 0.6899 0.8874 0.4975 0.8410 0.8165 0.8033 het 195.45 22 11 5411579 . G A 195.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.901;DP=22;Dels=0.00;FS=7.140;HRun=2;HaplotypeScore=0.0000;MQ=57.20;MQ0=0;MQRankSum=1.058;QD=8.88;ReadPosRankSum=-0.717;VQSLOD=3.2482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,8:22:99:225,0,375 11 5411580 5411580 T C exonic OR51M1 nonsynonymous SNV OR51M1:NM_001004756:exon1:c.T952C:p.F318L 0.71 0.74 0.73 0.55 0.82 0.73 0.7789 0.7638 0.6868 0.5369 0.8401 0.8232 0.7894 0.7620 0.81 0.78 0.83 . . rs10768907 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.537 0.053 N 1.000 0.090 P -1.14 0.009 N 1.54 0.301 T 1.54 0.007 N 0.022 0.005 -0.978 0.355 T 0.000 0.000 T . . . -2.269 0.005 0.001 0.513 0.045 0.043 0.097 N c -1.236 -1.444 1.000 0.413 0.526 0.212 0 -7.92 0.010 -1.482 0.024 -0.300 0.081 0.000 0.063 0.178 0.212 6.02 0.187 . . . 0.7685 0.7540 0.6809 0.8888 0.5065 0.8406 0.8169 0.7938 0.7507 0.7845 0.7630 0.6899 0.8874 0.4969 0.8410 0.8166 0.8033 het 166.29 21 11 5411580 . T C 166.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.455;DP=21;Dels=0.00;FS=4.506;HRun=0;HaplotypeScore=0.0000;MQ=57.06;MQ0=0;MQRankSum=0.187;QD=7.92;ReadPosRankSum=-0.336;VQSLOD=3.8645;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,7:21:99:196,0,368 11 5443442 5443442 G C exonic OR51Q1 synonymous SNV OR51Q1:NM_001004757:exon1:c.G12C:p.V4V 0.48 0.36 0.4 0.7 0.4 0.53 0.4358 0.3578 0.4230 0.7283 0.3825 0.3911 0.4352 0.5521 0.38 0.36 0.39 0.38 0.39 rs2736590 COSM3752434 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4348 0.3594 0.4259 0.4550 0.7298 0.3888 0.3877 0.4096 0.5173 0.3997 0.3559 0.3998 0.4139 0.7113 0.3875 0.3928 0.4180 het 3036.36 230 11 5443442 . G C 3036.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.116;DP=230;Dels=0.00;FS=3.602;HRun=0;HaplotypeScore=8.9350;MQ=59.64;MQ0=0;MQRankSum=-0.852;QD=13.20;ReadPosRankSum=-0.291;VQSLOD=3.9139;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,110:230:99:3066,0,3330 11 5443700 5443700 C T exonic OR51Q1 synonymous SNV OR51Q1:NM_001004757:exon1:c.C270T:p.N90N 0.45 0.28 0.4 0.7 0.4 0.53 0.4257 0.2893 0.4209 0.7265 0.3825 0.3894 0.4174 0.5222 0.36 0.3 0.39 0.36 0.39 rs2736588 COSM3752435 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4297 0.2910 0.4235 0.4541 0.7275 0.3888 0.3876 0.4075 0.5169 0.3813 0.2922 0.3974 0.4139 0.7073 0.3875 0.3926 0.4162 het 2185.45 192 11 5443700 . C T 2185.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.671;DP=192;Dels=0.00;FS=5.357;HRun=0;HaplotypeScore=6.4033;MQ=59.53;MQ0=0;MQRankSum=-0.286;QD=11.38;ReadPosRankSum=0.952;VQSLOD=4.6064;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:107,84:192:99:2215,0,2914 11 5443739 5443739 T C exonic OR51Q1 synonymous SNV OR51Q1:NM_001004757:exon1:c.T309C:p.F103F 0.45 0.28 0.4 0.7 0.4 0.53 0.4255 0.2891 0.4202 0.7265 0.3824 0.3891 0.4174 0.5222 0.36 0.3 0.39 0.36 0.39 rs2736587 COSM3752436 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4296 0.2908 0.4230 0.4541 0.7278 0.3886 0.3875 0.4069 0.5170 0.3809 0.2915 0.3974 0.4139 0.7068 0.3875 0.3922 0.4162 het 2320.37 171 11 5443739 . T C 2320.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.842;DP=171;Dels=0.00;FS=3.561;HRun=0;HaplotypeScore=6.0204;MQ=58.71;MQ0=0;MQRankSum=1.087;QD=13.57;ReadPosRankSum=-0.002;VQSLOD=5.0659;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,81:171:99:2350,0,2721 11 5443867 5443867 C T exonic OR51Q1 nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.C437T:p.T146I 0.45 0.28 0.4 0.7 0.4 0.53 0.4252 0.2889 0.4198 0.7255 0.3820 0.3889 0.4174 0.5217 0.36 0.3 0.39 0.35 0.4 rs10838092 COSM3752437 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.422 N 0.000 0.588 P -2.11 0.002 N 1.37 0.342 T 4.08 0.001 N 0.063 0.048 -0.933 0.437 T 0.000 0.000 T . . . 0.086 0.102 3.456 0.795 0.123 0.007 0.031 N c -1.627 -1.388 0.996 0.342 0.487 0.133 0 5.0 0.661 0.063 0.142 -0.511 0.051 0.000 0.063 0.745 0.320 9.981 0.408 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4292 0.2907 0.4229 0.4536 0.7274 0.3882 0.3871 0.4067 0.5165 0.3806 0.2911 0.3974 0.4094 0.7066 0.3875 0.3922 0.4148 het 2240.67 217 11 5443867 . C T 2240.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.761;DP=217;DS;Dels=0.00;FS=1.078;HRun=1;HaplotypeScore=5.7095;MQ=59.04;MQ0=0;MQRankSum=0.564;QD=10.33;ReadPosRankSum=1.339;VQSLOD=5.0815;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:129,88:217:99:2271,0,3906 11 5443887 5443887 T C exonic OR51Q1 nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.T457C:p.C153R 0.45 0.28 0.4 0.7 0.4 0.53 0.4251 0.2891 0.4198 0.7247 0.3819 0.3888 0.4174 0.5217 0.36 0.3 0.39 0.36 0.4 rs10838093 COSM3752438 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.439 N 0.999 0.219 P -3.22 0.000 N 1.25 0.365 T 7.05 0.000 N 0.072 0.061 -0.933 0.437 T 0.000 0.000 T . . . -1.328 0.021 0.004 0.563 0.054 0.038 0.090 N c -1.686 -1.421 0.061 0.152 0.487 0.133 0 3.09 0.345 -1.010 0.037 -0.079 0.119 0.000 0.063 0.812 0.340 6.880 0.232 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4290 0.2906 0.4228 0.4533 0.7273 0.3877 0.3868 0.4066 0.5168 0.3785 0.2892 0.3957 0.41 0.705 0.3867 0.3899 0.4119 het 2340.63 230 11 5443887 . T C 2340.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.968;DP=230;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9877;MQ=58.79;MQ0=0;MQRankSum=0.839;QD=10.18;ReadPosRankSum=-1.836;VQSLOD=5.7903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:134,96:230:99:2371,0,4086 11 5443893 5443893 G A exonic OR51Q1 nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.G463A:p.V155I 0.45 0.28 0.4 0.7 0.4 0.53 0.4251 0.2889 0.4197 0.7247 0.3819 0.3888 0.4174 0.5218 0.36 0.3 0.39 0.36 0.4 rs10838094 COSM3752439 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.46 0.087 T 0.039 0.197 B 0.039 0.223 B 0.205 0.165 N 1.000 0.090 P 1.025 0.256 L 1.24 0.367 T -0.36 0.131 N 0.007 0.000 -0.989 0.329 T 0.000 0.000 T . . . -1.175 0.026 0.007 0.800 0.126 0.059 0.117 N c -1.062 -0.981 0.028 0.138 0.487 0.133 0 1.97 0.252 -1.624 0.021 -0.640 0.041 0.000 0.063 0.675 0.304 6.206 0.197 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4290 0.2906 0.4228 0.4532 0.7274 0.3876 0.3868 0.4068 0.5169 0.3790 0.2906 0.3957 0.41 0.7034 0.3868 0.3901 0.4131 het 2392.77 232 11 5443893 . G A 2392.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.206;DP=232;DS;Dels=0.00;FS=1.641;HRun=0;HaplotypeScore=3.8544;MQ=58.82;MQ0=0;MQRankSum=-0.631;QD=10.31;ReadPosRankSum=-1.665;VQSLOD=4.9903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:138,94:232:99:2423,0,4152 11 5443963 5443963 G A exonic OR51Q1 nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.G533A:p.R178H 0.45 0.28 0.4 0.7 0.4 0.53 0.4250 0.2892 0.4199 0.7257 0.3807 0.3887 0.4163 0.5216 0.36 0.3 0.39 0.36 0.39 rs10838095 COSM3752440 1(breast);1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.000 0.588 P -3.575 0.000 N 8.88 0.000 T 7.59 0.000 N 0.161 0.193 -0.989 0.328 T 0.000 0.000 T . . . 0.439 0.136 6.948 0.509 0.044 0.157 0.188 N c -1.394 -1.045 0.334 0.195 0.487 0.133 0 5.0 0.661 4.289 0.586 0.047 0.160 0.980 0.350 0.904 0.383 9.981 0.408 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4287 0.2908 0.4227 0.4528 0.7274 0.3857 0.3866 0.4063 0.5166 0.3801 0.2923 0.3974 0.4139 0.7052 0.3853 0.3914 0.4109 het 2900.47 242 11 5443963 . G A 2900.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.102;DP=242;DS;Dels=0.00;FS=9.494;HRun=0;HaplotypeScore=1.8808;MQ=58.87;MQ0=0;MQRankSum=-0.900;QD=11.99;ReadPosRankSum=0.883;VQSLOD=4.5446;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,111:242:99:2930,0,3388 11 5444061 5444061 G A exonic OR51Q1 nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.G631A:p.V211M 0.45 0.28 0.4 0.7 0.4 0.53 0.4254 0.2893 0.4200 0.7257 0.3824 0.3890 0.4174 0.5222 0.36 0.3 0.39 0.36 0.39 rs2736586 . . . . . . . . . . . . . 0.47 0.085 T 0.002 0.090 B 0.003 0.080 B 0.646 0.106 N 0.000 0.588 P 0.02 0.080 N 1.04 0.402 T 0.51 0.029 N 0.042 0.022 -0.948 0.413 T 0.000 0.000 T . . . -0.614 0.049 0.115 0.442 0.033 0.016 0.052 N c -1.790 -1.850 0.636 0.220 0.554 0.246 0 -6.36 0.018 -4.142 0.003 -0.509 0.051 0.000 0.063 0.189 0.215 2.308 0.039 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4295 0.2909 0.4230 0.4541 0.7274 0.3885 0.3874 0.4074 0.5169 0.3811 0.2916 0.3974 0.4167 0.7070 0.3875 0.3926 0.4133 het 3104.62 243 11 5444061 . G A 3104.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.934;DP=243;DS;Dels=0.00;FS=9.430;HRun=0;HaplotypeScore=1.9385;MQ=59.75;MQ0=0;MQRankSum=-0.054;QD=12.78;ReadPosRankSum=0.898;VQSLOD=4.7009;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,116:243:99:3135,0,3329 11 5444136 5444136 C T exonic OR51Q1 stopgain OR51Q1:NM_001004757:exon1:c.C706T:p.R236X 0.45 0.28 0.4 0.7 0.4 0.53 0.4253 0.2892 0.4200 0.7263 0.3823 0.3888 0.4174 0.5222 0.36 0.3 0.39 0.36 0.39 rs2647574 COSM3752441 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.020 0.272 N 1.000 0.588 P . . . . . . . . . . . . . . . . . . . . 3.741 0.507 23.3 0.722 0.096 0.045 0.100 N c -1.011 -1.455 1.000 0.747 0.554 0.246 0 -9.99 0.004 -6.129 0.001 -0.072 0.120 0.000 0.063 0.025 0.141 26.119 1.000 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4294 0.2909 0.4230 0.4538 0.7273 0.3883 0.3874 0.4073 0.5168 0.3812 0.2923 0.3974 0.4139 0.7067 0.3877 0.3924 0.4141 het 1979.34 176 11 5444136 . C T 1979.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.374;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5770;MQ=59.53;MQ0=0;MQRankSum=0.492;QD=11.25;ReadPosRankSum=-0.191;VQSLOD=6.7372;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:99,76:176:99:2009,0,2605 11 5444353 5444353 T C exonic OR51Q1 nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.T923C:p.F308S 0.45 0.28 0.4 0.7 0.4 0.53 0.4361 0.2986 0.4292 0.7297 0.3868 0.3979 0.4268 0.5491 0.36 0.3 0.39 0.36 0.34 rs2647573 COSM3752442 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.015 0.524 D 0.094 0.238 B 0.031 0.206 B 0.096 0.201 N 0.830 0.287 P 0.57 0.153 N 1.21 0.372 T -1.22 0.309 N 0.166 0.200 -0.988 0.332 T 0.000 0.000 T . . . 2.220 0.328 17.64 0.958 0.274 0.099 0.154 N c -0.667 -0.635 0.991 0.322 0.487 0.133 0 5.0 0.661 1.340 0.333 0.827 0.338 0.003 0.159 0.004 0.083 12.321 0.541 . . . 0.4302 0.2912 0.4237 0.4550 0.7286 0.3886 0.3877 0.4100 0.5185 0.3811 0.2926 0.3983 0.4139 0.7078 0.3872 0.3919 0.4133 het 636.34 56 11 5444353 . T C 636.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.934;DP=56;Dels=0.00;FS=7.137;HRun=2;HaplotypeScore=0.9979;MQ=59.33;MQ0=0;MQRankSum=0.132;QD=11.36;ReadPosRankSum=-0.841;VQSLOD=5.1551;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,25:56:99:666,0,817 11 5461991 5461991 C A exonic OR51I1 nonsynonymous SNV OR51I1:NM_001005288:exon1:c.G754T:p.A252S 0.3 0.14 0.46 0.13 0.54 0.34 0.4620 0.2045 0.5005 0.1283 0.5668 0.5518 0.4712 0.3670 0.43 0.2 0.55 0.34 0.56 rs1498486 . . . . . . . . . . . . . 0.001 0.784 D 0.904 0.479 P 0.5 0.458 P 0.000 0.559 D 1 0.090 P 1.76 0.459 L 8.65 0.002 T -1.27 0.320 N 0.149 0.176 -1.289 0.000 T 0.000 0.000 T . . . 4.252 0.570 23.9 0.995 0.650 0.191 0.203 N c -0.189 -0.293 0.199 0.181 0.526 0.212 0 1.46 0.217 -0.848 0.044 0.916 0.428 0.000 0.063 0.146 0.204 7.252 0.252 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4653 0.1979 0.4942 0.4392 0.1266 0.5603 0.5546 0.4844 0.3705 0.4317 0.2035 0.5072 0.5 0.1388 0.5584 0.5555 0.5082 het 1620.91 98 11 5461991 . C A 1620.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.430;DP=98;Dels=0.00;FS=4.351;HRun=0;HaplotypeScore=1.5650;MQ=59.76;MQ0=0;MQRankSum=-0.916;QD=16.54;ReadPosRankSum=-1.524;VQSLOD=5.4322;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,61:98:99:1651,0,978 11 5462085 5462085 G A exonic OR51I1 synonymous SNV OR51I1:NM_001005288:exon1:c.C660T:p.Y220Y 0.23 0.12 0.23 0.37 0.23 0.22 0.2027 0.1267 0.2098 0.3711 0.2048 0.1947 0.1896 0.1904 0.18 0.13 0.21 0.18 0.16 rs11037444 COSM3998455 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2054 0.1276 0.2118 0.1751 0.3777 0.2014 0.1963 0.1926 0.1887 0.1934 0.1217 0.2255 0.1457 0.3981 0.2065 0.2081 0.2149 het 648.31 48 11 5462085 . G A 648.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.516;DP=48;Dels=0.00;FS=1.121;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=0.402;QD=13.51;ReadPosRankSum=-1.186;VQSLOD=6.3043;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,24:48:99:678,0,700 11 5462255 5462255 C G exonic OR51I1 nonsynonymous SNV OR51I1:NM_001005288:exon1:c.G490C:p.V164L 0.25 0.21 0.25 0.37 0.23 0.22 0.2111 0.2055 0.2158 0.3734 0.2048 0.1962 0.1943 0.1898 0.21 0.21 0.21 0.2 0.17 rs11037445 COSM3998457 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.447 N 0.000 0.588 P -3.175 0.000 N 5.87 0.007 T 2.74 0.002 N 0.1 0.103 -1.005 0.285 T 0.000 0.000 T . . . -0.356 0.064 0.493 0.676 0.082 0.032 0.081 N c -1.469 -1.161 0.121 0.169 0.487 0.133 0 3.61 0.403 0.942 0.284 -0.249 0.090 0.129 0.231 0.013 0.120 8.237 0.306 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2132 0.2092 0.2204 0.1846 0.3807 0.2014 0.1978 0.1999 0.1888 0.2160 0.1977 0.2327 0.1490 0.4040 0.2064 0.2091 0.2163 het 1971.21 142 11 5462255 . C G 1971.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.714;DP=142;Dels=0.00;FS=6.704;HRun=0;HaplotypeScore=2.6565;MQ=58.97;MQ0=0;MQRankSum=-1.224;QD=13.88;ReadPosRankSum=1.069;VQSLOD=3.7926;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,73:142:99:2001,0,1860 11 5474838 5474838 G T exonic OR51I2 synonymous SNV OR51I2:NM_001004754:exon1:c.G120T:p.G40G 0.4 0.45 0.45 0.26 0.5 0.35 0.4493 0.4606 0.3740 0.2451 0.5024 0.5006 0.4444 0.3724 0.49 0.47 0.51 0.35 0.48 rs2030094 COSM1354368 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4460 0.4611 0.3794 0.4873 0.2474 0.5015 0.5017 0.4427 0.3681 0.4716 0.4547 0.3993 0.5132 0.2428 0.4937 0.5056 0.4490 hom 3720.04 109 11 5474838 . G T 3720.04 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8730;MQ=59.79;MQ0=0;QD=34.13;VQSLOD=9.7710;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3719,313,0 11 5475431 5475431 - CA exonic OR51I2 frameshift insertion OR51I2:NM_001004754:exon1:c.713_714insCA:p.N239Tfs*17 0.17 0.042 0.3 0.042 0.37 0.18 0.2957 0.0895 0.2750 0.0415 0.4149 0.3743 0.3095 0.2073 0.28 0.1 0.37 . . rs35301588 COSM5713190 1(large_intestine);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2990 0.0869 0.2717 0.3034 0.0419 0.4150 0.3771 0.3109 0.2075 0.2866 0.0881 0.2843 0.3411 0.0512 0.4086 0.3962 0.3208 hom 12480.95 250 11 5475431 . T TCA 12480.95 Mask AC=2;AF=1.00;AN=2;DP=250;DS;FS=0.000;HRun=0;HaplotypeScore=602.6794;MQ=60.98;MQ0=0;QD=49.92;set=variant2 GT:AD:DP:GQ:PL 1/1:16,230:250:99:12481,701,0 11 5475597 5475597 C T exonic OR51I2 synonymous SNV OR51I2:NM_001004754:exon1:c.C879T:p.S293S 0.17 0.045 0.3 0.042 0.37 0.18 0.2970 0.0945 0.2776 0.0416 0.4150 0.3750 0.3122 0.2074 0.28 0.1 0.38 0.21 0.36 rs11037503 COSM3752446 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2991 0.0910 0.2737 0.3036 0.0418 0.4167 0.3776 0.3127 0.2071 0.2897 0.0953 0.2924 0.3411 0.0524 0.4084 0.3976 0.3224 hom 5716.46 187 11 5475597 . C T 5716.46 Mask AC=2;AF=1.00;AN=2;DP=187;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0414;MQ=59.04;MQ0=0;QD=30.57;VQSLOD=8.0434;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:187:99:5715,493,0 11 5510284 5510284 A G exonic OR52D1 synonymous SNV OR52D1:NM_001005163:exon1:c.A348G:p.S116S 0.95 0.92 0.97 0.92 0.97 0.98 0.9694 0.9405 0.9811 0.9182 0.9660 0.9749 0.9548 0.9859 0.96 0.94 0.97 0.9 0.99 rs417425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9698 0.9377 0.9816 0.9708 0.9194 0.9687 0.9737 0.9688 0.9877 0.9646 0.9467 0.9821 0.9768 0.9194 0.9671 0.9773 0.9776 hom 6777.36 221 11 5510284 . A G 6777.36 Mask AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8650;MQ=59.37;MQ0=0;QD=30.67;VQSLOD=9.3622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:6776,566,0 11 5510341 5510341 C T exonic OR52D1 synonymous SNV OR52D1:NM_001005163:exon1:c.C405T:p.Y135Y 0.53 0.32 0.58 0.61 0.59 0.6 0.5857 0.3800 0.5469 0.6140 0.5446 0.6175 0.5969 0.6150 0.54 0.38 0.62 0.58 0.69 rs404280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5862 0.3747 0.5441 0.5673 0.6191 0.5543 0.6222 0.5887 0.6166 0.5468 0.3920 0.5671 0.5861 0.6324 0.5475 0.6246 0.5611 hom 7936 248 11 5510341 . C T 7936 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5741;MQ=59.44;MQ0=0;QD=32.00;VQSLOD=9.5375;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7935,653,0 11 5510497 5510497 T C exonic OR52D1 synonymous SNV OR52D1:NM_001005163:exon1:c.T561C:p.I187I 0.95 0.91 0.97 0.92 0.97 0.98 0.9689 0.9361 0.9806 0.9185 0.9660 0.9749 0.9548 0.9858 0.96 0.94 0.97 0.9 0.98 rs2467219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9695 0.9335 0.9813 0.9707 0.9198 0.9688 0.9736 0.9685 0.9877 0.9629 0.9413 0.9809 0.9768 0.9184 0.9671 0.9769 0.9776 hom 8016.99 250 11 5510497 . T C 8016.99 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7910;MQ=58.97;MQ0=0;QD=32.07;VQSLOD=9.2918;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8015,689,0 11 5510626 5510626 T C exonic OR52D1 synonymous SNV OR52D1:NM_001005163:exon1:c.T690C:p.H230H 0.95 0.91 0.97 0.92 0.97 0.98 0.9689 0.9361 0.9810 0.9180 0.9660 0.9748 0.9548 0.9859 0.96 0.94 0.97 0.9 0.99 rs444878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9695 0.9335 0.9815 0.9708 0.9194 0.9687 0.9736 0.9686 0.9877 0.9630 0.9414 0.9809 0.9768 0.9193 0.9671 0.9770 0.9776 hom 7589.91 225 11 5510626 . T C 7589.91 Mask AC=2;AF=1.00;AN=2;DP=225;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5132;MQ=59.17;MQ0=0;QD=33.73;VQSLOD=9.1207;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:7589,590,0 11 5510688 5510688 T C exonic OR52D1 nonsynonymous SNV OR52D1:NM_001005163:exon1:c.T752C:p.I251T 0.15 0.057 0.28 0.04 0.31 0.16 0.2611 0.0889 0.2649 0.0409 0.3649 0.3234 0.2698 0.1887 0.25 0.097 0.32 0.2 0.34 rs7101919 COSM3752448 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.99 0.774 D 0.000 0.629 D 1e-37 0.810 P 3.185 0.891 M 8.52 0.002 T -4.56 0.786 D 0.231 0.283 -0.783 0.562 T 0.000 0.000 T . . . 4.873 0.655 24.9 0.998 0.863 0.774 0.378 D c 0.553 0.425 1.000 0.747 0.487 0.133 0 5.58 0.843 4.268 0.584 1.061 0.807 0.969 0.340 0.952 0.428 14.723 0.688 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2635 0.0862 0.2597 0.2514 0.0419 0.3658 0.3237 0.2705 0.1907 0.2572 0.0882 0.2835 0.3046 0.0491 0.3609 0.3497 0.2821 hom 5848.31 186 11 5510688 . T C 5848.31 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.9009;MQ=59.38;MQ0=0;QD=31.44;VQSLOD=8.2505;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5847,460,0 11 5528918 5528918 C T exonic UBQLN3 nonsynonymous SNV UBQLN3:NM_001347096:exon2:c.G1871A:p.R624Q,UBQLN3:NM_017481:exon2:c.G1871A:p.R624Q 0.18 0.055 0.33 0.052 0.37 0.2 0.3000 0.0921 0.2815 0.0506 0.3858 0.3769 0.3201 0.2271 0.29 0.1 0.38 0.17 0.39 rs2227271 COSM429159 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.502 0.077 T 0.045 0.204 B 0.025 0.193 B 0.015 0.285 N 1.000 0.090 P 0.375 0.121 N 1.82 0.250 T -0.08 0.082 N 0.036 0.016 -0.933 0.438 T 0.000 0.000 T . . . 1.738 0.270 14.63 0.954 0.263 0.105 0.158 N c -0.645 -0.617 1.000 0.416 0.487 0.133 0 1.23 0.203 0.531 0.226 0.935 0.490 0.002 0.151 0.997 0.653 6.845 0.230 UBA-like|Ubiquitin-associated domain . . 0.3013 0.0880 0.2767 0.3165 0.0501 0.3855 0.3775 0.3215 0.2307 0.2877 0.0935 0.2938 0.3543 0.0562 0.3760 0.4024 0.3060 hom 4679.77 135 11 5528918 . C T 4679.77 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6912;MQ=58.75;MQ0=0;QD=34.66;VQSLOD=7.9227;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,134:135:99:4679,373,0 11 5529139 5529139 T C exonic UBQLN3 synonymous SNV UBQLN3:NM_001347096:exon2:c.A1650G:p.A550A,UBQLN3:NM_017481:exon2:c.A1650G:p.A550A 0.19 0.058 0.33 0.053 0.38 0.21 0.3154 0.0964 0.2928 0.0520 0.3898 0.3995 0.33 0.2354 0.3 0.1 0.4 0.18 0.41 rs2234456 COSM3752450 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3165 0.0910 0.2896 0.3452 0.0523 0.3911 0.4003 0.3422 0.2386 0.2993 0.0967 0.3094 0.3808 0.0593 0.3800 0.4207 0.3214 hom 2441.36 73 11 5529139 . T C 2441.36 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.44;VQSLOD=13.8703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2474,208,0 11 5529865 5529865 G A exonic UBQLN3 synonymous SNV UBQLN3:NM_001347096:exon2:c.C924T:p.S308S,UBQLN3:NM_017481:exon2:c.C924T:p.S308S 0.99 0.95 1. 1. 1. 1. 0.9970 0.9670 0.9993 1 1 0.9997 1 1 0.99 0.97 1. 0.99 1. rs186434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9975 0.9661 0.9987 1 1 1 0.9997 0.9982 1.0000 0.9924 0.9739 0.9988 1 1 1 0.9998 0.9980 hom 4047.04 123 11 5529865 . G A 4047.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.653;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7470;MQ=58.81;MQ0=0;MQRankSum=0.909;QD=32.90;ReadPosRankSum=0.965;VQSLOD=9.3729;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,122:123:99:4011,324,0 11 5536537 5536537 A C exonic UBQLNL nonsynonymous SNV UBQLNL:NM_145053:exon1:c.T1135G:p.W379G 0.97 0.89 0.99 1. 1. 1. 0.9925 0.9239 0.9967 1 1 0.9988 1 0.9998 0.98 0.93 1. 0.98 1. rs393044 . . . . . . . . . . . . . 0.355 0.121 T 0.0 0.026 B 0.0 0.013 B 0.600 0.110 N 1 0.090 P -0.975 0.012 N 0.93 0.441 T 3.67 0.001 N 0.03 0.011 -1.006 0.282 T 0.000 0.000 T . . . -1.862 0.010 0.002 0.577 0.057 0.000 0.003 N c -1.576 -1.492 0.286 0.190 0.549 0.223 0 -0.375 0.118 -0.204 0.093 -0.879 0.027 0.000 0.063 0.197 0.217 1.044 0.015 . . . 0.9938 0.9249 0.9958 0.9895 1 1 0.9992 0.9934 0.9997 0.9807 0.9334 0.9964 0.9967 1 1 0.9992 0.9980 hom 6111.53 178 11 5536537 . A C 6111.53 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.1988;MQ=59.11;MQ0=0;QD=34.33;VQSLOD=6.2246;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:6111,475,0 11 5536848 5536848 G A exonic UBQLNL nonsynonymous SNV UBQLNL:NM_145053:exon1:c.C824T:p.A275V 0.53 0.37 0.61 0.4 0.73 0.63 0.6252 0.4285 0.5690 0.3738 0.5855 0.7057 0.6095 0.6117 0.62 0.44 0.71 0.54 0.68 rs2017433 COSM147120 1(stomach);1(haematopoietic_and_lymphoid_tissue);3(prostate);1(large_intestine) . . . . . . . . . . . 0.24 0.177 T 0.011 0.147 B 0.011 0.145 B 0.475 0.122 N 1 0.090 P 0.885 0.217 L 0.74 0.505 T -1.04 0.273 N 0.035 0.015 -0.986 0.336 T 0.000 0.000 T . . . -0.312 0.067 0.623 0.945 0.244 0.049 0.106 N c -0.937 -0.932 0.423 0.203 0.554 0.246 0 2.19 0.268 0.832 0.270 -0.100 0.116 0.001 0.137 0.002 0.062 4.409 0.108 . . . 0.6275 0.4170 0.5774 0.7293 0.3728 0.5884 0.7118 0.6686 0.6128 0.5890 0.4280 0.6014 0.7267 0.3591 0.5762 0.7021 0.6534 hom 3010.88 93 11 5536848 . G A 3010.88 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=32.38;VQSLOD=9.6427;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3044,247,0 11 5566030 5566030 A G exonic OR52H1 nonsynonymous SNV OR52H1:NM_001005289:exon1:c.T724C:p.C242R 0.89 0.94 0.84 0.92 0.8 0.92 0.8361 0.9288 0.7954 0.9305 0.7511 0.8080 0.8304 0.9049 0.85 0.93 0.81 0.9 0.74 rs1995158 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.288 N 1 0.090 P -3.23 0.000 N 9.45 0.000 T 7.43 0.000 N 0.019 0.004 -0.956 0.399 T 0.000 0.000 T . . . -2.750 0.002 0.001 0.443 0.034 0.009 0.035 N c -1.949 -1.785 0.001 0.076 0.554 0.246 0 1.2 0.201 -0.139 0.103 -0.945 0.024 0.000 0.063 0.011 0.114 7.083 0.243 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000175518.6 Nerve_Tibial 0.8308 0.9303 0.7994 0.8106 0.9317 0.7561 0.8082 0.8102 0.9047 0.8374 0.9261 0.8301 0.8377 0.9395 0.75 0.7978 0.8014 hom 2893.62 92 11 5566030 . A G 2893.62 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=31.45;VQSLOD=9.3845;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2927,244,0 11 5566051 5566051 C A exonic OR52H1 nonsynonymous SNV OR52H1:NM_001005289:exon1:c.G703T:p.G235C 0.38 0.45 0.51 0.085 0.58 0.3 0.5101 0.4639 0.4944 0.0856 0.5928 0.5974 0.5683 0.3840 0.56 0.46 0.61 0.37 0.55 rs1995157 COSM3998467 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.108 0.294 T 0.137 0.258 B 0.062 0.255 B 0.695 0.101 N 1.000 0.182 P 1.18 0.301 L 8.7 0.001 T -0.26 0.112 N 0.057 0.040 -1.134 0.016 T 0.000 0.000 T . . . 1.632 0.258 14.03 0.939 0.234 0.085 0.143 N c -0.598 -0.508 0.024 0.136 0.554 0.246 0 5.37 0.769 0.428 0.210 0.069 0.176 0.000 0.063 0.828 0.346 8.921 0.346 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000175518.6|ENSG00000224295.2|ENSG00000175518.6|ENSG00000175518.6 Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial 0.5126 0.4573 0.5011 0.5094 0.0847 0.5967 0.6073 0.5347 0.3865 0.5361 0.4675 0.5324 0.5331 0.0848 0.5890 0.6128 0.5337 het 1232.44 87 11 5566051 . C A 1232.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.999;DP=87;Dels=0.00;FS=12.821;HRun=3;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;MQRankSum=-0.828;QD=14.17;ReadPosRankSum=0.344;VQSLOD=4.3177;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,44:87:99:1262,0,1296 11 5566112 5566112 C T exonic OR52H1 synonymous SNV OR52H1:NM_001005289:exon1:c.G642A:p.T214T 0.38 0.46 0.51 0.085 0.58 0.3 0.5111 0.4637 0.4962 0.0857 0.5930 0.5988 0.5664 0.3839 0.55 0.46 0.61 0.37 0.53 rs1995156 COSM3998468 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5129 0.4561 0.5016 0.5194 0.0850 0.5966 0.6079 0.5365 0.3864 0.5345 0.4615 0.5323 0.5464 0.0852 0.5891 0.6128 0.5317 het 1548.20 123 11 5566112 . C T 1548.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.017;DP=123;Dels=0.00;FS=5.614;HRun=0;HaplotypeScore=1.5774;MQ=59.44;MQ0=0;MQRankSum=0.545;QD=12.59;ReadPosRankSum=-0.170;VQSLOD=5.9394;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,58:123:99:1578,0,1678 11 5566365 5566365 T C exonic OR52H1 nonsynonymous SNV OR52H1:NM_001005289:exon1:c.A389G:p.H130R 0.89 0.93 0.84 0.92 0.8 0.92 0.8355 0.9210 0.7952 0.9309 0.7507 0.8081 0.8293 0.9048 0.85 0.92 0.81 0.9 0.75 rs1566275 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.000 0.810 P -2.925 0.000 N 3.55 0.048 T 4.68 0.000 N 0.044 0.024 -0.924 0.450 T 0.000 0.000 T . . . -1.860 0.010 0.002 0.696 0.087 0.003 0.015 N c -1.635 -1.307 0.595 0.217 0.554 0.246 0 4.63 0.570 2.164 0.418 -0.340 0.072 0.014 0.188 0.968 0.456 16.587 0.845 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000175518.6 Nerve_Tibial 0.8303 0.9222 0.7991 0.8124 0.9317 0.7560 0.8083 0.8095 0.9046 0.8350 0.9171 0.8301 0.8377 0.9396 0.7503 0.7980 0.8014 hom 4137.98 135 11 5566365 . T C 4137.98 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8782;MQ=58.14;MQ0=0;QD=30.65;VQSLOD=7.9760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4137,334,0 11 5566489 5566489 C T exonic OR52H1 nonsynonymous SNV OR52H1:NM_001005289:exon1:c.G265A:p.A89T 0.39 0.47 0.51 0.085 0.58 0.3 0.5120 0.4721 0.4969 0.0855 0.5933 0.5989 0.5683 0.3839 0.56 0.46 0.61 0.37 0.54 rs10769054 COSM3998469 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.392 0.107 T 0.0 0.026 B 0.0 0.013 B 0.376 0.044 N 0.194 0.346 P 0.095 0.085 N 4.08 0.030 T 0.04 0.065 N 0.014 0.002 -0.979 0.353 T 0.000 0.000 T . . . 1.625 0.257 13.99 0.945 0.245 0.009 0.035 N c -0.939 -0.782 0.001 0.080 0.554 0.283 0 2.04 0.257 -0.210 0.093 0.149 0.237 0.000 0.063 0.815 0.341 5.302 0.150 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000175518.6|ENSG00000224295.2|ENSG00000175518.6|ENSG00000175518.6 Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial 0.5142 0.4664 0.5024 0.5183 0.0847 0.5968 0.6079 0.5367 0.3866 0.5374 0.4724 0.5324 0.5464 0.0846 0.5887 0.6127 0.5317 het 1644.41 143 11 5566489 . C T 1644.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.888;DP=143;Dels=0.00;FS=2.110;HRun=3;HaplotypeScore=1.9148;MQ=59.08;MQ0=0;MQRankSum=-0.352;QD=11.50;ReadPosRankSum=-0.780;VQSLOD=6.5481;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,62:143:99:1674,0,2359 11 5602275 5602275 A G exonic OR52B6 nonsynonymous SNV OR52B6:NM_001005162:exon1:c.A169G:p.T57A 0.57 0.64 0.57 0.77 0.33 0.54 0.4287 0.5848 0.6554 0.7751 0.3497 0.3155 0.4040 0.4859 0.4 0.56 0.31 0.51 0.3 rs1077126 . . . . . . . . . . . . . 0.3 0.145 T 0.0 0.026 B 0.002 0.063 B 0.001 0.390 N 1 0.090 P -0.08 0.048 N 7.45 0.004 T -0.22 0.105 N 0.018 0.003 -1.098 0.043 T 0.000 0.000 T . . . -1.588 0.015 0.002 0.595 0.061 0.018 0.055 N c -1.202 -1.162 0.280 0.190 0.554 0.246 0 3.24 0.361 -0.831 0.045 -0.347 0.071 0.000 0.063 0.002 0.062 9.284 0.367 . . . 0.4347 0.5900 0.6401 0.3568 0.7745 0.3540 0.3102 0.3885 0.4856 0.4207 0.5718 0.5919 0.3841 0.7611 0.3342 0.3100 0.3830 het 1612.72 131 11 5602275 . A G 1612.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.404;DP=131;Dels=0.00;FS=1.523;HRun=0;HaplotypeScore=1.4105;MQ=59.65;MQ0=0;MQRankSum=-0.247;QD=12.31;ReadPosRankSum=-0.897;VQSLOD=6.7102;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,62:131:99:1643,0,1929 11 5602438 5602438 T A exonic OR52B6 nonsynonymous SNV OR52B6:NM_001005162:exon1:c.T332A:p.L111H 0.72 0.74 0.67 0.98 0.48 0.69 0.5745 0.7057 0.7141 0.9777 0.4905 0.4734 0.5321 0.6306 0.55 0.7 0.47 0.66 0.46 rs2341432 COSM4999412 1(pancreas) . . . . . . . . . . . 0.214 0.193 T 0.0 0.026 B 0.0 0.013 B 0.537 0.116 N 1 0.090 P 0.115 0.086 N 6.64 0.005 T 3.06 0.001 N 0.072 0.061 -0.967 0.378 T 0.000 0.000 T . . . 0.301 0.123 5.700 0.730 0.098 0.038 0.090 N c -1.076 -1.024 0.926 0.268 0.554 0.246 0 2.71 0.310 -0.302 0.082 0.144 0.231 0.000 0.063 0.775 0.329 5.909 0.181 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5760 0.7027 0.7074 0.4975 0.9780 0.4930 0.4681 0.5323 0.6281 0.5620 0.6878 0.6687 0.4967 0.9783 0.4714 0.4620 0.5368 het 2507.50 186 11 5602438 . T A 2507.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.478;DP=186;DS;Dels=0.00;FS=12.872;HRun=0;HaplotypeScore=9.6207;MQ=59.27;MQ0=0;MQRankSum=1.009;QD=13.48;ReadPosRankSum=-0.281;VQSLOD=2.8154;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,94:186:99:2537,0,2596 11 5602605 5602605 G A exonic OR52B6 nonsynonymous SNV OR52B6:NM_001005162:exon1:c.G499A:p.A167T 0.57 0.61 0.56 0.77 0.33 0.54 0.4270 0.5612 0.6536 0.7752 0.3496 0.3149 0.4002 0.4885 0.39 0.55 0.31 0.51 0.3 rs2341433 COSM3752474 1(large_intestine) . . . . . . . . . . . 0.199 0.204 T 0.013 0.154 B 0.022 0.184 B 0.120 0.190 N 1.000 0.191 P 0.74 0.190 N 1.19 0.376 T -0.99 0.262 N 0.025 0.007 -0.984 0.341 T 0.000 0.000 T . . . -0.618 0.049 0.113 0.743 0.103 0.074 0.133 N c -1.504 -1.476 0.020 0.132 0.554 0.246 0 1.57 0.224 -0.654 0.054 -0.976 0.023 0.000 0.063 0.001 0.043 8.494 0.321 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4327 0.5645 0.6386 0.3561 0.7739 0.3547 0.3096 0.3876 0.4857 0.4115 0.5432 0.5863 0.3841 0.7630 0.3335 0.3084 0.3768 het 2752.07 246 11 5602605 . G A 2752.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.921;DP=246;DS;Dels=0.00;FS=3.679;HRun=0;HaplotypeScore=3.0313;MQ=59.38;MQ0=0;MQRankSum=-0.962;QD=11.19;ReadPosRankSum=0.380;VQSLOD=5.7988;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,106:246:99:2782,0,3688 11 5602615 5602615 A G exonic OR52B6 nonsynonymous SNV OR52B6:NM_001005162:exon1:c.A509G:p.H170R 0.72 0.74 0.67 0.98 0.48 0.69 0.5746 0.7094 0.7142 0.9775 0.4903 0.4732 0.5299 0.6292 0.55 0.7 0.47 0.66 0.47 rs2341434 COSM5654180 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.024 0.263 N 0.354 0.329 P -3.385 0.000 N 1.26 0.363 T 4.65 0.000 N 0.055 0.037 -0.957 0.397 T 0.000 0.000 T . . . -2.010 0.008 0.001 0.512 0.044 0.006 0.027 N c -1.451 -1.205 0.957 0.282 0.487 0.133 0 5.15 0.702 0.913 0.280 0.058 0.164 0.000 0.063 0.162 0.208 9.936 0.405 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5760 0.7061 0.7076 0.4974 0.9778 0.4921 0.4679 0.5319 0.6280 0.5623 0.6915 0.6671 0.4967 0.9771 0.4708 0.4611 0.5359 het 2950.89 243 11 5602615 . A G 2950.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.784;DP=243;DS;Dels=0.00;FS=9.304;HRun=0;HaplotypeScore=4.1658;MQ=59.47;MQ0=0;MQRankSum=0.921;QD=12.14;ReadPosRankSum=0.148;VQSLOD=4.8017;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:133,110:243:99:2981,0,3657 11 5602679 5602679 T C exonic OR52B6 synonymous SNV OR52B6:NM_001005162:exon1:c.T573C:p.N191N 0.72 0.74 0.67 0.98 0.48 0.69 0.5744 0.7090 0.7148 0.9777 0.4903 0.4734 0.5344 0.6280 0.55 0.7 0.47 0.67 0.48 rs892336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5761 0.7062 0.7076 0.4972 0.9780 0.4929 0.4681 0.5321 0.6279 0.5635 0.6930 0.6687 0.4967 0.9784 0.4711 0.4622 0.5370 het 4123.05 244 11 5602679 . T C 4123.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.340;DP=244;DS;Dels=0.00;FS=0.469;HRun=0;HaplotypeScore=13.0765;MQ=59.37;MQ0=0;MQRankSum=-0.023;QD=16.90;ReadPosRankSum=-1.327;VQSLOD=2.3036;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,114:244:99:3405,0,3693 11 5602790 5602790 A G exonic OR52B6 synonymous SNV OR52B6:NM_001005162:exon1:c.A684G:p.L228L 0.72 0.74 0.67 0.98 0.48 0.69 0.5741 0.7082 0.7144 0.9778 0.4908 0.4733 0.5311 0.6281 0.55 0.71 0.47 0.67 0.48 rs2163946 COSM5654181 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5761 0.7061 0.7076 0.4973 0.9780 0.4926 0.4681 0.5319 0.6280 0.5638 0.6931 0.6715 0.5 0.9783 0.4714 0.4626 0.5388 het 3148.05 212 11 5602790 . A G 3148.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.151;DP=212;DS;Dels=0.00;FS=4.239;HRun=1;HaplotypeScore=7.8711;MQ=59.40;MQ0=0;MQRankSum=-1.930;QD=14.85;ReadPosRankSum=-0.626;VQSLOD=3.5077;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,110:212:99:3178,0,2991 11 5602928 5602928 G C exonic OR52B6 synonymous SNV OR52B6:NM_001005162:exon1:c.G822C:p.A274A 0.72 0.74 0.67 0.98 0.48 0.69 0.5738 0.7058 0.7143 0.9776 0.4903 0.4732 0.5311 0.6280 0.55 0.71 0.47 0.67 0.48 rs10838375 COSM5654182 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5759 0.7029 0.7075 0.4975 0.9780 0.4927 0.4681 0.5324 0.6280 0.5626 0.6895 0.6687 0.4967 0.9783 0.4716 0.4620 0.5409 het 3130.94 244 11 5602928 . G C 3130.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.570;DP=244;DS;Dels=0.00;FS=0.475;HRun=1;HaplotypeScore=5.3362;MQ=59.75;MQ0=0;MQRankSum=1.575;QD=12.83;ReadPosRankSum=-0.891;VQSLOD=4.1018;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:131,113:244:99:3161,0,3520 11 5602968 5602968 G A exonic OR52B6 nonsynonymous SNV OR52B6:NM_001005162:exon1:c.G862A:p.V288I 0.89 0.97 0.88 0.99 0.76 0.84 0.8101 0.9511 0.9051 0.9908 0.7895 0.7496 0.8044 0.8183 0.82 0.95 0.75 0.9 0.68 rs10769086 . . . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.009 0.133 B 0.001 0.397 N 1 0.090 P -0.01 0.051 N 8.74 0.001 T 0.39 0.035 N 0.021 0.005 -0.903 0.477 T 0.000 0.000 T . . . -1.443 0.018 0.003 0.703 0.090 0.007 0.029 N c -1.503 -1.463 0.004 0.103 0.554 0.246 0 0.634 0.168 -1.862 0.017 0.106 0.201 0.000 0.063 0.492 0.269 0.879 0.011 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8114 0.9528 0.8953 0.7562 0.9912 0.7929 0.7469 0.7862 0.8186 0.8244 0.9436 0.8768 0.7815 0.9920 0.7802 0.7472 0.7924 hom 7546.02 249 11 5602968 . G A 7546.02 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5074;MQ=59.39;MQ0=0;QD=30.31;VQSLOD=5.2881;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7515,599,0 11 5625847 5625847 A G exonic TRIM6;TRIM6-TRIM34 synonymous SNV TRIM6:NM_001003818:exon3:c.A591G:p.K197K,TRIM6-TRIM34:NM_001003819:exon3:c.A591G:p.K197K,TRIM6:NM_058166:exon3:c.A507G:p.K169K 0.7 0.72 0.66 0.72 0.59 0.8 0.6560 0.7240 0.7303 0.7353 0.4927 0.6119 0.6233 0.7648 0.66 0.72 0.62 0.73 0.57 rs3751006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6562 0.7227 0.7232 0.7494 0.7330 0.5016 0.6087 0.6435 0.7615 0.6276 0.7165 0.7237 0.7267 0.7293 0.5043 0.5866 0.6222 het 2062.17 173 11 5625847 . A G 2062.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.291;DP=173;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6316;MQ=59.78;MQ0=0;MQRankSum=-0.504;QD=11.92;ReadPosRankSum=-0.106;VQSLOD=6.5249;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:98,75:173:99:2092,0,2650 11 5632212 5632212 G A exonic TRIM6 synonymous SNV TRIM6:NM_001198645:exon6:c.G582A:p.L194L,TRIM6:NM_001198644:exon7:c.G582A:p.L194L,TRIM6:NM_001003818:exon8:c.G1191A:p.L397L,TRIM6:NM_058166:exon8:c.G1107A:p.L369L 0.79 0.6 0.76 1. 0.66 0.97 0.7652 0.6204 0.8590 0.9958 0.6763 0.7068 0.7665 0.9418 0.69 0.63 0.71 0.71 0.7 rs10769124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7708 0.6255 0.8462 0.7658 0.9972 0.6883 0.7051 0.7328 0.9405 0.6937 0.6170 0.8282 0.79 0.9944 0.6847 0.6975 0.7090 het 2324.05 194 11 5632212 . G A 2324.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.704;DP=194;Dels=0.00;FS=3.302;HRun=0;HaplotypeScore=1.4972;MQ=59.18;MQ0=0;MQRankSum=1.773;QD=11.98;ReadPosRankSum=-0.272;VQSLOD=5.9655;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,91:194:99:2354,0,2849 11 5700340 5700340 T C exonic TRIM5 synonymous SNV TRIM5:NM_033034:exon3:c.A477G:p.L159L,TRIM5:NM_033092:exon3:c.A477G:p.L159L,TRIM5:NM_033093:exon3:c.A477G:p.L159L 0.81 0.73 0.8 0.83 0.86 0.86 0.8384 0.7247 0.8203 0.8209 0.8807 0.8563 0.8579 0.8416 0.81 0.71 0.85 0.74 0.84 rs3740995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8387 0.7167 0.8191 0.8173 0.8188 0.8768 0.8572 0.8507 0.8421 0.8165 0.7119 0.8122 0.8411 0.8210 0.8746 0.8606 0.8534 hom 8697.53 250 11 5700340 . T C 8697.53 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2522;MQ=59.52;MQ0=0;QD=34.79;VQSLOD=7.9912;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8697,671,0 11 5701001 5701001 C T exonic TRIM5 nonsynonymous SNV TRIM5:NM_033034:exon2:c.G407A:p.R136Q,TRIM5:NM_033092:exon2:c.G407A:p.R136Q,TRIM5:NM_033093:exon2:c.G407A:p.R136Q 0.18 0.1 0.23 0.078 0.38 0.16 0.2909 0.1347 0.1792 0.0558 0.4266 0.3663 0.3413 0.2096 0.28 0.14 0.35 0.16 0.33 rs10838525 COSM4382205;COSM5826976;COSM3752494;COSM3752493;COSM147125 1(stomach);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.007 0.131 B 0.002 0.063 B 0.089 0.205 N 1 0.090 P -1.8 0.003 N 0.52 0.553 T 1.84 0.005 N 0.021 0.243 -0.973 0.365 T 0.000 0.000 T . . . -0.190 0.077 1.149 0.210 0.008 0.003 0.017 N c -1.614 -1.528 0.712 0.228 0.707 0.730 0 0.203 0.144 1.549 0.356 -0.213 0.100 0.111 0.228 0.001 0.043 4.120 0.095 . . . 0.2818 0.1306 0.1916 0.3100 0.0530 0.4256 0.3643 0.3231 0.1717 0.2897 0.1434 0.1909 0.3433 0.0533 0.4178 0.3710 0.3476 het 1852.99 136 11 5701001 . C T 1852.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.809;DP=136;Dels=0.00;FS=1.547;HRun=0;HaplotypeScore=6.3734;MQ=59.65;MQ0=0;MQRankSum=-0.773;QD=13.62;ReadPosRankSum=-1.721;VQSLOD=4.1724;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,68:136:99:1883,0,1818 11 5717762 5717762 T C exonic TRIM22 synonymous SNV TRIM22:NM_001199573:exon2:c.T300C:p.H100H,TRIM22:NM_006074:exon2:c.T300C:p.H100H 0.39 0.37 0.41 0.18 0.52 0.51 0.4592 0.3892 0.3309 0.1793 0.4877 0.5166 0.4558 0.4932 0.46 0.38 0.5 0.4 0.46 rs10838543 COSM3998480 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4539 0.3866 0.3490 0.5516 0.1794 0.4871 0.5104 0.4675 0.4923 0.4488 0.4000 0.3983 0.5533 0.1718 0.4834 0.4967 0.4949 het 1102.74 98 11 5717762 . T C 1102.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.267;DP=98;Dels=0.00;FS=6.580;HRun=0;HaplotypeScore=2.5966;MQ=59.53;MQ0=0;MQRankSum=1.233;QD=11.25;ReadPosRankSum=-0.934;VQSLOD=4.9210;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,45:98:99:1133,0,1439 11 5718517 5718517 G A exonic TRIM22 nonsynonymous SNV TRIM22:NM_001199573:exon3:c.G463A:p.D155N,TRIM22:NM_006074:exon3:c.G463A:p.D155N 0.46 0.47 0.49 0.18 0.64 0.51 0.5329 0.4879 0.3807 0.1834 0.5899 0.6070 0.5320 0.5198 0.57 0.5 0.6 0.49 0.5 rs7935564 . . . . . . . . . . . . . 0.009 0.574 D 0.143 0.260 B 0.085 0.279 B . . . 1 0.090 P 0.345 0.112 N -0.08 0.710 T -0.31 0.131 N 0.009 0.048 -0.933 0.436 T 0.000 0.000 T . . . 1.742 0.270 14.65 0.970 0.314 0.025 0.070 N c -1.182 -1.290 0.999 0.389 0.707 0.730 0 -4.48 0.032 -2.896 0.008 -0.377 0.066 0.000 0.063 0.000 0.016 2.263 0.038 . . . 0.5233 0.4760 0.3981 0.6427 0.1773 0.5832 0.6001 0.5478 0.5136 0.5343 0.4960 0.4558 0.6333 0.1733 0.5840 0.5839 0.5729 hom 980.75 36 11 5718517 . G A 980.75 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.59;MQ0=0;QD=27.24;VQSLOD=8.0568;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:78.24:1014,78,0 11 5719750 5719750 G C exonic TRIM22 nonsynonymous SNV TRIM22:NM_001199573:exon4:c.G713C:p.R238T,TRIM22:NM_006074:exon4:c.G725C:p.R242T 0.43 0.37 0.46 0.21 0.54 0.59 0.5114 0.3864 0.3597 0.1985 0.6239 0.5711 0.5202 0.5598 0.51 0.4 0.57 0.49 0.55 rs1063303 COSM147127 1(stomach);1(pancreas);2(prostate);1(large_intestine) . . . . . . . . . . . 0.036 0.506 D 0.009 0.139 B 0.016 0.166 B . . . 1 0.090 P 1.415 0.357 L 3.51 0.050 T -1.46 0.406 N 0.052 0.289 -0.977 0.357 T 0.000 0.000 T . . . -0.576 0.051 0.143 0.986 0.429 0.074 0.133 N c -1.248 -1.337 1.000 0.500 0.722 0.854 0 -2.15 0.067 -0.065 0.115 -1.504 0.010 0.000 0.063 0.000 0.016 8.065 0.296 . . . 0.5016 0.3796 0.3588 0.5370 0.1877 0.6182 0.5697 0.5253 0.5475 0.5097 0.3949 0.4021 0.5530 0.1887 0.6151 0.5893 0.5471 hom 1716.52 58 11 5719750 . G C 1716.52 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=29.60;VQSLOD=8.4504;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1750,150,0 11 5758062 5758062 T C exonic OR56B1 nonsynonymous SNV OR56B1:NM_001005180:exon1:c.T316C:p.C106R 0.74 0.66 0.66 0.75 0.83 0.8 0.8171 0.6759 0.6781 0.7453 0.9148 0.8597 0.8400 0.8272 0.8 0.68 0.86 0.64 0.89 rs7397032 COSM5445674 1(oesophagus) . . . . . . . . . . . 0.004 0.654 D 1.0 0.899 D 0.999 0.916 D 0.000 0.486 U 0.000 0.810 P 3.92 0.963 H 6.67 0.005 T -11.76 0.995 D 0.492 0.539 -1.016 0.250 T 0.000 0.000 T . . . 4.837 0.649 24.8 0.997 0.774 0.971 0.724 D c 0.839 0.733 1.000 0.428 0.487 0.133 0 4.78 0.605 6.136 0.713 1.031 0.654 1.000 0.715 0.996 0.625 10.239 0.423 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8168 0.6731 0.6879 0.8375 0.7487 0.9114 0.8632 0.8087 0.8247 0.8095 0.6739 0.6993 0.8543 0.7578 0.8990 0.8755 0.8528 hom 1832.46 58 11 5758062 . T C 1832.46 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7172;MQ=60.00;MQ0=0;QD=31.59;VQSLOD=9.1536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1865,156,0 11 5758118 5758118 A C exonic OR56B1 synonymous SNV OR56B1:NM_001005180:exon1:c.A372C:p.L124L 0.85 0.75 0.78 0.89 0.94 0.91 0.9105 0.7625 0.7546 0.8772 0.9564 0.9543 0.9284 0.9329 0.89 0.76 0.96 0.79 0.98 rs7396766 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9089 0.7607 0.7639 0.9578 0.8815 0.9577 0.9565 0.9134 0.9314 0.8943 0.7632 0.7745 0.9636 0.8988 0.9479 0.9601 0.9348 hom 2799.41 82 11 5758118 . A C 2799.41 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8332;MQ=60.00;MQ0=0;QD=34.14;VQSLOD=9.1327;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2832,223,0 11 5776287 5776287 C T exonic OR52N4 nonsynonymous SNV OR52N4:NM_001005175:exon1:c.C317T:p.T106I 0.92 0.88 0.87 0.91 0.97 0.97 0.9446 0.8935 0.8739 0.8937 0.9351 0.9654 0.9659 0.9717 0.95 0.9 0.97 0.96 . rs7936512 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.044 0.236 N 1 0.090 P -1.99 0.002 N 4.19 0.027 T 4.05 0.001 N 0.02 0.192 -1.022 0.229 T 0.000 0.000 T . . . -1.188 0.025 0.007 0.599 0.062 0.002 0.010 N c -1.529 -1.344 0.000 0.048 0.554 0.246 0 2.21 0.269 0.752 0.258 0.154 0.240 0.000 0.063 0.976 0.476 9.995 0.409 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000181001.1 Adipose_Visceral_Omentum 0.9425 0.8954 0.8774 0.9568 0.8985 0.9353 0.9670 0.9501 0.9723 0.9360 0.8922 0.8962 0.9636 0.9047 0.9364 0.9651 0.9571 hom 5997.24 190 11 5776287 . C T 5997.24 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9107;MQ=59.78;MQ0=0;QD=31.56;VQSLOD=9.3590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5996,484,0 11 5776470 5776470 T G exonic OR52N4 nonsynonymous SNV OR52N4:NM_001005175:exon1:c.T500G:p.L167R 0.89 0.77 0.87 0.91 0.97 0.97 0.9360 0.7937 0.8687 0.8937 0.9351 0.9650 0.9592 0.9728 0.92 0.81 0.97 0.86 . rs7394584 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.079 0.210 N 1 0.090 P -2.665 0.000 N 8.87 0.000 T 5.71 0.000 N 0.033 0.271 -1.003 0.290 T 0.000 0.000 T . . . -2.281 0.005 0.001 0.623 0.067 0.006 0.027 N c -1.721 -1.563 0.000 0.012 0.554 0.246 0 1.9 0.247 -1.545 0.023 -0.665 0.040 0.000 0.063 0.057 0.169 6.494 0.212 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000181001.1 Adipose_Visceral_Omentum 0.9352 0.7912 0.8729 0.9540 0.8985 0.9354 0.9668 0.9446 0.9733 0.9065 0.7895 0.8876 0.9636 0.9046 0.9364 0.9646 0.9531 hom 7427.31 238 11 5776470 . T G 7427.31 Mask AC=2;AF=1.00;AN=2;DP=238;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9043;MQ=59.45;MQ0=0;QD=31.21;VQSLOD=5.4275;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,237:238:99:7394,608,0 11 5776484 5776484 A T exonic OR52N4 stopgain OR52N4:NM_001005175:exon1:c.A514T:p.R172X 0.21 0.15 0.23 0.2 0.28 0.25 0.2328 0.1551 0.2350 0.2142 0.2742 0.2444 0.2395 0.2237 0.21 0.15 0.24 0.18 . rs4910844 COSM3998482 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . 0.042 0.239 N 0.001 0.588 P . . . . . . . . . . . . . . . . . . . . 9.337 0.962 35 0.994 0.645 0.381 0.257 N c 0.120 -0.143 0.000 0.012 0.554 0.246 0 1.94 0.249 -0.798 0.046 0.241 0.266 0.000 0.063 0.237 0.225 6.912 0.234 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000181017.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000180988.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2341 0.1512 0.2415 0.2423 0.2188 0.2702 0.2394 0.2531 0.2248 0.2121 0.1565 0.2321 0.2384 0.2281 0.2592 0.2281 0.2449 het 4113.08 238 11 5776484 . A T 4113.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.410;DP=238;DS;Dels=0.00;FS=7.106;HRun=0;HaplotypeScore=2.7870;MQ=59.38;MQ0=0;MQRankSum=-0.353;QD=17.28;ReadPosRankSum=2.298;VQSLOD=3.0225;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,120:238:99:3483,0,3322 11 5776623 5776623 A T exonic OR52N4 nonsynonymous SNV OR52N4:NM_001005175:exon1:c.A653T:p.N218I 0.9 0.79 0.87 0.91 0.97 0.97 0.9371 0.8044 0.8697 0.8938 0.9351 0.9650 0.9602 0.9728 0.92 0.82 0.97 0.87 . rs7396938 . . . . . . . . . . . . . 0.684 0.044 T 0.0 0.026 B 0.0 0.013 B 0.915 0.085 N 1 0.090 P -2.615 0.000 N 1.46 0.322 T 4.63 0.000 N 0.033 0.146 -0.960 0.392 T 0.000 0.000 T . . . -1.528 0.016 0.002 0.597 0.061 0.001 0.008 N c -1.507 -1.315 0.000 0.038 0.554 0.246 0 3.8 0.427 1.786 0.381 -0.227 0.095 0.008 0.178 0.195 0.216 1.492 0.023 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000181001.1 Adipose_Visceral_Omentum 0.9361 0.8035 0.8735 0.9542 0.8985 0.9354 0.9668 0.9450 0.9732 0.9101 0.8017 0.8890 0.9636 0.9051 0.9365 0.9647 0.9532 hom 5852.78 175 11 5776623 . A T 5852.78 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6109;MQ=59.52;MQ0=0;QD=33.44;VQSLOD=7.1688;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5852,481,0 11 5809308 5809308 A T exonic OR52N1 nonsynonymous SNV OR52N1:NM_001001913:exon1:c.T739A:p.F247I 0.92 0.89 0.88 0.91 0.97 0.98 0.9456 0.8943 0.8750 0.8961 0.9350 0.9652 0.9735 0.9764 0.94 0.89 0.97 0.9 0.98 rs7934670 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.429 N 0.000 0.588 P -2.295 0.001 N 1.44 0.327 T 3.53 0.001 N 0.053 0.035 -0.974 0.363 T 0.000 0.000 T . . . 0.580 0.149 8.019 0.784 0.119 0.033 0.083 N c -1.230 -0.971 0.000 0.012 0.487 0.133 0 3.5 0.390 0.176 0.165 0.130 0.216 0.487 0.266 0.879 0.368 2.59 0.045 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000181001.1 Adipose_Visceral_Omentum 0.9466 0.9030 0.8846 0.9578 0.9038 0.9397 0.9692 0.9536 0.9775 0.9363 0.8919 0.9019 0.9636 0.9025 0.9369 0.9657 0.9560 hom 4442.52 134 11 5809308 . A T 4442.52 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9850;MQ=55.39;MQ0=0;QD=33.15;VQSLOD=3.6992;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4442,361,0 11 5809477 5809477 A G exonic OR52N1 synonymous SNV OR52N1:NM_001001913:exon1:c.T570C:p.S190S 0.32 0.46 0.27 0.2 0.33 0.29 0.3004 0.4363 0.2593 0.2149 0.3092 0.3041 0.3024 0.2688 0.35 0.43 0.31 0.33 0.38 rs10838637 COSM3998484 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2961 0.4388 0.2671 0.2980 0.2195 0.3073 0.3018 0.3068 0.2683 0.3285 0.4366 0.2780 0.3013 0.2294 0.2966 0.2888 0.3047 het 2061.50 162 11 5809477 . A G 2061.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.732;DP=162;Dels=0.00;FS=1.956;HRun=1;HaplotypeScore=0.8667;MQ=57.84;MQ0=0;MQRankSum=-2.005;QD=12.73;ReadPosRankSum=-1.757;VQSLOD=3.5352;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,75:162:99:2091,0,2424 11 5809548 5809548 G A exonic OR52N1 nonsynonymous SNV OR52N1:NM_001001913:exon1:c.C499T:p.R167C 0.55 0.25 0.59 0.71 0.64 0.69 0.6316 0.3067 0.6081 0.6827 0.6269 0.6609 0.6685 0.7075 0.55 0.33 0.66 0.52 0.61 rs7948009 COSM5438556 1(oesophagus) . . . . . . . . . . . 0.022 0.486 D 0.08 0.230 B 0.082 0.276 B 0.008 0.310 N 0.000 0.588 P 2.245 0.637 M 8.59 0.002 T -6.34 0.909 D 0.173 0.210 -0.937 0.432 T 0.000 0.000 T . . . 3.081 0.430 22.5 0.982 0.384 0.173 0.196 N c -0.546 -0.584 0.000 0.012 0.554 0.246 0 1.38 0.212 -0.767 0.048 1.017 0.643 0.000 0.063 0.729 0.316 3.853 0.084 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.6362 0.3041 0.6046 0.6571 0.6802 0.6281 0.6647 0.6344 0.7078 0.5636 0.3034 0.6062 0.6623 0.6742 0.6397 0.6755 0.6429 het 1874.99 137 11 5809548 . G A 1874.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.015;DP=137;Dels=0.00;FS=5.260;HRun=0;HaplotypeScore=1.5592;MQ=59.22;MQ0=0;MQRankSum=-0.434;QD=13.69;ReadPosRankSum=0.268;VQSLOD=5.8895;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,72:137:99:1905,0,1634 11 5809673 5809673 C T exonic OR52N1 nonsynonymous SNV OR52N1:NM_001001913:exon1:c.G374A:p.C125Y 0.32 0.46 0.27 0.2 0.33 0.29 0.3001 0.4342 0.2594 0.2147 0.3091 0.3042 0.3018 0.2687 0.35 0.43 0.31 0.33 0.38 rs10769224 COSM3998485 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.009 0.304 N 0.000 0.588 P -2.985 0.000 N 2.0 0.215 T 8.23 0.000 N 0.108 0.115 -0.939 0.428 T 0.000 0.000 T . . . -1.041 0.030 0.013 0.570 0.056 0.011 0.039 N c -1.535 -1.319 0.000 0.029 0.487 0.133 0 2.13 0.263 0.017 0.132 -0.253 0.089 0.003 0.159 0.180 0.213 5.157 0.143 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.2961 0.4374 0.2670 0.2981 0.2198 0.3075 0.3019 0.3072 0.2683 0.3284 0.4366 0.2780 0.3020 0.2319 0.2968 0.2881 0.3041 het 2137.12 175 11 5809673 . C T 2137.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.632;DP=175;Dels=0.00;FS=1.213;HRun=0;HaplotypeScore=6.1215;MQ=59.24;MQ0=0;MQRankSum=0.390;QD=12.21;ReadPosRankSum=0.510;VQSLOD=4.9007;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,86:175:99:2167,0,2402 11 5809746 5809746 C T exonic OR52N1 nonsynonymous SNV OR52N1:NM_001001913:exon1:c.G301A:p.A101T 0.32 0.46 0.27 0.2 0.33 0.29 0.3002 0.4358 0.2594 0.2151 0.3090 0.3041 0.3018 0.2687 0.35 0.43 0.31 0.33 0.38 rs10742787 COSM3998486 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.003 0.080 B 0.108 0.195 N 0.192 0.346 P -1.24 0.008 N 4.08 0.030 T 0.81 0.018 N 0.039 0.019 -0.936 0.433 T 0.000 0.000 T . . . -0.706 0.045 0.070 0.444 0.034 0.064 0.123 N c -1.430 -1.338 0.000 0.012 0.487 0.133 0 1.53 0.221 -1.517 0.023 0.030 0.149 0.000 0.063 0.141 0.202 3.905 0.086 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.2962 0.4393 0.2673 0.2977 0.2198 0.3074 0.3018 0.3065 0.2683 0.3289 0.4377 0.2780 0.3033 0.2321 0.2970 0.2885 0.3041 het 1971.82 181 11 5809746 . C T 1971.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.410;DP=181;Dels=0.00;FS=1.178;HRun=0;HaplotypeScore=5.6573;MQ=59.05;MQ0=0;MQRankSum=-0.984;QD=10.89;ReadPosRankSum=-0.590;VQSLOD=4.8494;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:99,82:181:99:2002,0,2708 11 5841856 5841856 C T exonic OR52N2 synonymous SNV OR52N2:NM_001005174:exon1:c.C291T:p.N97N 0.74 0.72 0.71 0.67 0.82 0.77 0.7717 0.7329 0.6770 0.6414 0.8128 0.8094 0.7896 0.7609 0.79 0.75 0.81 0.73 0.84 rs4758435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7680 0.7337 0.6869 0.7147 0.6423 0.8178 0.8131 0.7828 0.7596 0.7772 0.7343 0.7249 0.7351 0.6277 0.8227 0.8090 0.8096 hom 7171.95 225 11 5841856 . C T 7171.95 Mask AC=2;AF=1.00;AN=2;DP=225;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0960;MQ=59.73;MQ0=0;QD=31.88;VQSLOD=7.7999;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,224:225:99:7171,572,0 11 5842310 5842310 T G exonic OR52N2 nonsynonymous SNV OR52N2:NM_001005174:exon1:c.T745G:p.S249A 0.5 0.45 0.51 0.47 0.58 0.52 0.5621 0.4615 0.4597 0.4367 0.5609 0.6137 0.5628 0.5544 0.57 0.47 0.62 0.53 0.65 rs8181529 COSM3998489 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.64 0.050 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.000 0.810 P -2.835 0.000 N 8.86 0.000 T 2.18 0.003 N 0.031 0.012 -1.066 0.104 T 0.000 0.000 T . . . 0.706 0.161 8.869 0.497 0.042 0.004 0.022 N c -0.967 -0.710 0.976 0.296 0.638 0.428 0 6.09 0.991 1.661 0.368 0.119 0.209 0.007 0.175 0.009 0.108 15.769 0.778 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000180988.2|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000181001.1|ENSG00000180988.2|ENSG00000180988.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis 0.5579 0.4601 0.4610 0.5511 0.4321 0.5708 0.6201 0.5608 0.5500 0.5551 0.4579 0.5132 0.5530 0.4043 0.5849 0.6209 0.5929 het 2791.64 178 11 5842310 . T G 2791.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.593;DP=178;Dels=0.00;FS=0.568;HRun=0;HaplotypeScore=4.1074;MQ=59.16;MQ0=0;MQRankSum=1.049;QD=15.68;ReadPosRankSum=0.001;VQSLOD=5.9564;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,91:178:99:2822,0,2391 11 5842356 5842356 A G exonic OR52N2 nonsynonymous SNV OR52N2:NM_001005174:exon1:c.A791G:p.H264R 0.45 0.34 0.48 0.47 0.54 0.49 0.5121 0.3621 0.4434 0.4358 0.5245 0.5558 0.5209 0.5123 0.49 0.37 0.55 0.48 0.52 rs8181512 COSM3998490 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.004 0.654 D 0.991 0.622 D 0.984 0.745 D 0.000 0.559 D 1e-37 0.810 P 3.22 0.896 M 8.75 0.001 T -7.4 0.947 D 0.319 0.380 -0.997 0.307 T 0.000 0.000 T . . . 3.628 0.493 23.2 0.996 0.724 0.934 0.578 D c 0.519 0.368 1.000 0.517 0.554 0.246 0 6.09 0.991 5.339 0.655 1.171 0.901 0.622 0.277 0.574 0.284 15.492 0.752 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Lung|Nerve_Tibial|Testis 0.5104 0.3615 0.4431 0.4969 0.4318 0.5321 0.5600 0.5173 0.5095 0.4927 0.3627 0.4821 0.4868 0.4037 0.5461 0.5629 0.5408 het 2794.68 182 11 5842356 . A G 2794.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.399;DP=182;Dels=0.00;FS=0.556;HRun=0;HaplotypeScore=5.8977;MQ=59.53;MQ0=0;MQRankSum=-0.471;QD=15.36;ReadPosRankSum=1.625;VQSLOD=4.4834;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,104:182:99:2825,0,1986 11 5862532 5862532 A C exonic OR52E6 nonsynonymous SNV OR52E6:NM_001005167:exon1:c.T596G:p.M199R 0.33 0.22 0.3 0.46 0.34 0.34 0.3378 0.2318 0.3539 0.4685 0.3949 0.3298 0.3623 0.3326 0.29 0.23 0.33 0.29 . rs10742809 . . . . . . . . . . . . . 0.009 0.574 D 0.0 0.026 B 0.005 0.104 B 0.607 0.057 N 0.015 0.402 P 0.945 0.238 L 8.75 0.001 T -3.55 0.687 D 0.192 0.235 -1.051 0.140 T 0.000 0.000 T . . . 0.707 0.161 8.874 0.932 0.223 0.232 0.218 N c -0.792 -0.769 0.001 0.086 0.487 0.133 0 3.45 0.384 1.136 0.309 0.133 0.217 0.000 0.063 0.867 0.362 10.911 0.461 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Lung|Nerve_Tibial|Nerve_Tibial 0.3424 0.2283 0.3552 0.3334 0.4704 0.3951 0.3254 0.3405 0.3403 0.3099 0.2347 0.3266 0.3212 0.4913 0.3761 0.3156 0.3391 hom 4831.06 150 11 5862532 . A C 4831.06 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.686;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7005;MQ=56.26;MQ0=0;MQRankSum=-1.476;QD=32.21;ReadPosRankSum=-1.546;VQSLOD=4.1743;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,149:150:99:4830,376,0 11 5862653 5862653 T C exonic OR52E6 nonsynonymous SNV OR52E6:NM_001005167:exon1:c.A475G:p.I159V 0.38 0.38 0.32 0.46 0.37 0.37 0.3693 0.3735 0.3677 0.4682 0.4194 0.3530 0.3877 0.3606 0.36 0.37 0.35 0.39 . rs4357719 COSM5653035;COSM5653036 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.233 0.181 T 0.0 0.026 B 0.002 0.063 B 0.103 0.026 N 1 0.090 P 0.335 0.104 N 1.19 0.376 T -0.18 0.098 N 0.009 0.001 -1.020 0.239 T 0.000 0.000 T . . . -2.953 0.001 0.001 0.479 0.039 0.001 0.005 N c -2.437 -2.560 0.972 0.293 0.487 0.133 0 -6.91 0.015 -15.109 0.000 -3.069 0.001 0.000 0.063 0.012 0.117 0.801 0.010 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Lung|Nerve_Tibial|Nerve_Tibial 0.3716 0.3745 0.3719 0.3660 0.4704 0.4187 0.3484 0.3688 0.3669 0.3697 0.3736 0.3481 0.3675 0.4925 0.4035 0.3473 0.3758 hom 7567.46 241 11 5862653 . T C 7567.46 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2278;MQ=50.43;MQ0=4;QD=31.40;VQSLOD=4.1972;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:7566,629,0 11 5862845 5862845 A G exonic OR52E6 nonsynonymous SNV OR52E6:NM_001005167:exon1:c.T283C:p.S95P 0.38 0.38 0.32 0.46 0.37 0.37 0.3694 0.3744 0.3677 0.4686 0.4194 0.3531 0.3877 0.3606 0.36 0.37 0.35 0.39 . rs4592451 COSM4145924;COSM4145925 1(thyroid) . . . . . . . . . . . 0.009 0.586 D 0.904 0.479 P 0.616 0.494 P 0.086 0.206 N 1 0.090 P 0.86 0.214 L 1.0 0.414 T -3.22 0.649 D 0.285 0.370 -1.007 0.278 T 0.000 0.000 T . . . 3.317 0.457 22.9 0.994 0.611 0.017 0.054 N c -0.583 -0.846 0.000 0.029 0.487 0.133 0 -4.43 0.033 -4.257 0.003 1.166 0.901 0.000 0.063 0.996 0.625 5.397 0.155 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Lung|Nerve_Tibial|Nerve_Tibial 0.3716 0.3746 0.3719 0.3660 0.4705 0.4185 0.3483 0.3681 0.3669 0.3699 0.3748 0.3484 0.3675 0.4899 0.4035 0.3473 0.3758 hom 7481.35 226 11 5862845 . A G 7481.35 Mask AC=2;AF=1.00;AN=2;DP=226;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6726;MQ=55.13;MQ0=1;QD=33.10;VQSLOD=3.7579;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7481,587,0 11 5862937 5862937 C A exonic OR52E6 nonsynonymous SNV OR52E6:NM_001005167:exon1:c.G191T:p.C64F 0.38 0.38 0.32 0.46 0.37 0.37 0.3692 0.3753 0.3682 0.4682 0.4194 0.3528 0.3877 0.3595 0.36 0.37 0.35 0.39 . rs4495918 COSM4145927;COSM4145926 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.424 N 0.000 0.548 P -3.42 0.000 N 5.7 0.008 T 6.67 0.000 N 0.078 0.071 -0.985 0.337 T 0.000 0.000 T . . . -0.275 0.070 0.755 0.581 0.058 0.008 0.031 N c -1.450 -1.191 0.000 0.035 0.487 0.133 0 3.64 0.407 5.806 0.686 0.218 0.255 0.969 0.340 0.951 0.427 9.114 0.357 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Lung|Nerve_Tibial|Nerve_Tibial 0.3709 0.3748 0.3718 0.3642 0.4704 0.4168 0.3475 0.3670 0.3661 0.3700 0.3757 0.3484 0.3675 0.4887 0.4035 0.3471 0.3773 hom 6614.28 209 11 5862937 . C A 6614.28 Mask AC=2;AF=1.00;AN=2;DP=209;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6786;MQ=57.94;MQ0=0;QD=31.65;VQSLOD=6.8811;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:209:99:6613,530,0 11 5862984 5862984 G C exonic OR52E6 nonsynonymous SNV OR52E6:NM_001005167:exon1:c.C144G:p.F48L 0.38 0.38 0.32 0.46 0.37 0.37 0.3696 0.3773 0.3683 0.4686 0.4196 0.3531 0.3863 0.3603 0.36 0.37 0.35 0.39 . rs10769272 COSM1127733 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.441 N 1.000 0.090 P -1.825 0.003 N 8.17 0.005 T 3.46 0.001 N 0.032 0.012 -0.988 0.331 T 0.000 0.000 T . . . -1.350 0.021 0.004 0.669 0.080 0.005 0.025 N c -2.202 -2.160 0.002 0.088 0.487 0.133 0 -7.27 0.013 -9.893 0.000 -1.356 0.013 0.000 0.063 0.122 0.197 4.005 0.090 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000180988.2|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Lung|Nerve_Tibial|Nerve_Tibial 0.3713 0.3749 0.3718 0.3653 0.4704 0.4181 0.3480 0.3688 0.3664 0.3700 0.3753 0.3484 0.3675 0.4893 0.4035 0.3471 0.3773 hom 6039.19 179 11 5862984 . G C 6039.19 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0798;MQ=58.56;MQ0=0;QD=33.74;VQSLOD=7.5764;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,178:179:99:6039,472,0 11 5863013 5863013 T C exonic OR52E6 nonsynonymous SNV OR52E6:NM_001005167:exon1:c.A115G:p.I39V 0.38 0.38 0.32 0.46 0.37 0.37 0.3699 0.3791 0.3689 0.4688 0.4196 0.3532 0.3872 0.3602 0.36 0.37 0.35 0.39 . rs4362173 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.384 0.133 N 1 0.090 P 0.535 0.137 N 8.43 0.003 T -0.11 0.087 N 0.012 0.002 -1.020 0.237 T 0.000 0.000 T . . . -2.816 0.002 0.001 0.751 0.106 0.007 0.029 N c -1.709 -1.751 0.000 0.012 0.487 0.133 0 -3.21 0.048 -8.030 0.000 -0.842 0.029 0.000 0.063 0.062 0.172 7.592 0.270 . ENSG00000236965.3|ENSG00000180988.2|ENSG00000180988.2|ENSG00000236965.3|ENSG00000236965.3|ENSG00000180988.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Lung|Nerve_Tibial|Nerve_Tibial 0.3715 0.3750 0.3721 0.3657 0.4705 0.4183 0.3482 0.3690 0.3664 0.3703 0.3756 0.3484 0.37 0.4918 0.4035 0.3473 0.3765 hom 6396.27 190 11 5863013 . T C 6396.27 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9427;MQ=58.77;MQ0=0;QD=33.66;VQSLOD=9.4400;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:6396,500,0 11 5863113 5863113 G A exonic OR52E6 synonymous SNV OR52E6:NM_001005167:exon1:c.C15T:p.N5N 0.38 0.38 0.32 0.46 0.37 0.37 0.3701 0.3763 0.3695 0.4687 0.4194 0.3539 0.3886 0.3607 0.35 0.36 0.35 0.39 . rs10742810 COSM429318;COSM3752522 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3717 0.3749 0.3722 0.3659 0.4702 0.4188 0.3485 0.3685 0.3665 0.3704 0.3751 0.3493 0.3675 0.4931 0.4038 0.3477 0.3765 hom 4462.09 142 11 5863113 . G A 4462.09 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;QD=31.42;VQSLOD=9.6534;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4462,355,0 11 5906048 5906048 G A exonic OR52E4 nonsynonymous SNV OR52E4:NM_001005165:exon1:c.G526A:p.V176I 0.78 0.81 0.75 0.83 0.8 0.69 0.7819 0.8083 0.7457 0.8201 0.8376 0.7930 0.7963 0.7028 0.8 0.81 0.79 0.8 0.73 rs4758168 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.017 0.277 N 1 0.090 P -1.59 0.004 N 8.76 0.001 T 0.79 0.019 N 0.023 0.007 -1.008 0.275 T 0.000 0.000 T . . . 0.370 0.130 6.351 0.816 0.133 0.001 0.006 N c -1.236 -0.972 0.000 0.029 0.487 0.133 0 4.02 0.458 0.656 0.245 -0.133 0.110 0.046 0.210 0.076 0.179 7.947 0.290 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7827 0.8148 0.7519 0.7258 0.8255 0.8374 0.7950 0.7856 0.7095 0.8107 0.8146 0.7470 0.7417 0.8499 0.8253 0.8056 0.8143 hom 5191.10 159 11 5906048 . G A 5191.10 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.122;DP=159;Dels=0.00;FS=4.800;HRun=0;HaplotypeScore=3.6985;MQ=57.93;MQ0=0;MQRankSum=1.514;QD=32.65;ReadPosRankSum=1.100;VQSLOD=4.5546;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,158:159:99:5156,387,0 11 5906073 5906073 G T exonic OR52E4 nonsynonymous SNV OR52E4:NM_001005165:exon1:c.G551T:p.R184M 0.78 0.81 0.75 0.83 0.8 0.69 0.7820 0.8080 0.7458 0.8199 0.8376 0.7930 0.7963 0.7037 0.8 0.81 0.79 0.8 0.73 rs4757986 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.454 N 1.000 0.090 P -2.465 0.001 N 8.71 0.001 T 5.6 0.000 N 0.064 0.049 -0.984 0.340 T 0.000 0.000 T . . . -0.277 0.070 0.749 0.781 0.117 0.002 0.011 N c -1.386 -1.107 0.000 0.012 0.487 0.133 0 2.83 0.320 -0.642 0.055 0.141 0.225 0.000 0.063 0.930 0.404 5.944 0.183 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7827 0.8146 0.7519 0.7258 0.8254 0.8374 0.7949 0.7851 0.7103 0.8106 0.8147 0.7470 0.74 0.8490 0.8253 0.8056 0.8139 hom 5711.11 172 11 5906073 . G T 5711.11 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7661;MQ=58.31;MQ0=0;QD=33.20;VQSLOD=8.8223;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5710,463,0 11 5906192 5906192 A C exonic OR52E4 synonymous SNV OR52E4:NM_001005165:exon1:c.A670C:p.R224R 0.8 0.88 0.76 0.83 0.8 0.69 0.7878 0.8722 0.7478 0.8205 0.8373 0.7930 0.7974 0.7039 0.82 0.87 0.79 0.83 0.73 rs1453435 COSM3998497 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7872 0.8774 0.7551 0.7259 0.8256 0.8376 0.7949 0.7883 0.7106 0.8284 0.8762 0.7476 0.7417 0.8492 0.8252 0.8060 0.8187 hom 7261.87 240 11 5906192 . A C 7261.87 Mask AC=2;AF=1.00;AN=2;DP=240;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8653;MQ=59.43;MQ0=0;QD=30.26;VQSLOD=8.0374;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,239:240:99:7239,596,0 11 5906205 5906205 G A exonic OR52E4 nonsynonymous SNV OR52E4:NM_001005165:exon1:c.G683A:p.R228H 0.42 0.49 0.35 0.46 0.39 0.37 0.3920 0.4793 0.3861 0.4677 0.4445 0.3709 0.4097 0.3644 0.4 0.47 0.37 0.41 0.39 rs4757987 . . . . . . . . . . . . . 0.373 0.114 T 0.003 0.102 B 0.013 0.154 B 0.006 0.320 N 1 0.090 P 0.765 0.194 N 8.4 0.003 T -0.33 0.125 N 0.02 0.004 -1.082 0.069 T 0.000 0.000 T . . . 0.745 0.165 9.118 0.886 0.175 0.021 0.061 N c -1.014 -1.022 0.000 0.012 0.487 0.133 0 0.047 0.135 -1.342 0.027 0.117 0.209 0.000 0.063 0.007 0.100 9.634 0.388 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000236965.3|ENSG00000236965.3|ENSG00000236965.3 Adipose_Subcutaneous|Lung|Nerve_Tibial 0.3934 0.4832 0.3899 0.3993 0.4702 0.4455 0.3656 0.3920 0.3710 0.4129 0.4825 0.3723 0.3974 0.4936 0.4358 0.3622 0.3978 hom 6552.16 220 11 5906205 . G A 6552.16 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.38;MQ0=0;QD=29.78;VQSLOD=8.3589;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,219:220:99:6551,536,0 11 5968793 5968793 C T exonic OR56A3 synonymous SNV OR56A3:NM_001003443:exon1:c.C217T:p.L73L . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.123e-06 0 0 0 0 0 1.791e-05 0 0 . . . . . . . . het 2825.38 246 11 5968793 . C T 2825.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.798;DP=246;DS;Dels=0.00;FS=4.479;HRun=1;HaplotypeScore=4.2086;MQ=58.30;MQ0=1;MQRankSum=0.961;QD=11.49;ReadPosRankSum=0.873;VQSLOD=3.3867;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:136,110:246:99:2855,0,4111 11 6007272 6007272 A G exonic OR52L1 nonsynonymous SNV OR52L1:NM_001005173:exon1:c.T889C:p.W297R 0.83 0.78 0.87 0.87 0.85 0.8 0.8378 0.7823 0.9154 0.8709 0.8196 0.8344 0.8326 0.8206 0.81 0.79 0.82 0.83 . rs4237768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8355 0.7772 0.9070 0.7735 0.8703 0.8101 0.8316 0.8283 0.8207 0.8207 0.7854 0.8675 0.7781 0.8620 0.8174 0.8337 0.8517 hom 1842.78 61 11 6007272 . A G 1842.78 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.335;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6249;MQ=59.01;MQ0=0;MQRankSum=1.675;QD=30.21;ReadPosRankSum=0.994;VQSLOD=7.4192;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,60:61:99:1876,135,0 11 6007613 6007613 T G exonic OR52L1 nonsynonymous SNV OR52L1:NM_001005173:exon1:c.A548C:p.K183T 0.71 0.42 0.82 0.87 0.82 0.76 0.7856 0.4889 0.8899 0.8708 0.7800 0.8023 0.7795 0.7791 0.7 0.52 0.79 0.7 . rs4354673 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7882 0.4800 0.8794 0.7239 0.8702 0.7687 0.8017 0.7856 0.7819 0.7116 0.4898 0.8337 0.7351 0.8608 0.7731 0.7973 0.7949 hom 6843.34 212 11 6007613 . T G 6843.34 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6238;MQ=54.38;MQ0=1;QD=32.28;VQSLOD=4.3610;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6843,539,0 11 6007680 6007680 A G exonic OR52L1 nonsynonymous SNV OR52L1:NM_001005173:exon1:c.T481C:p.C161R 0.75 0.56 0.84 0.86 0.82 0.76 0.7951 0.6014 0.8952 0.8668 0.7800 0.8026 0.7902 0.7791 0.74 0.63 0.79 0.72 . rs4436524 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7962 0.5960 0.8847 0.7239 0.8661 0.7687 0.8021 0.7925 0.7820 0.7440 0.6034 0.8397 0.7351 0.8560 0.7728 0.7975 0.8071 hom 5440.62 171 11 6007680 . A G 5440.62 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=51.16;MQ0=2;QD=31.82;VQSLOD=3.9260;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5440,442,0 11 6023581 6023581 A G exonic OR56A4 synonymous SNV OR56A4:NM_001005179:exon1:c.T798C:p.L266L 0.16 0.058 0.19 0.079 0.27 0.26 0.2443 0.1001 0.1643 0.0681 0.2489 0.2937 0.24 0.2816 0.23 0.11 0.3 0.13 0.33 rs11040248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2446 0.0946 0.1784 0.3230 0.0632 0.2526 0.2940 0.2456 0.2833 0.2193 0.1116 0.1993 0.3113 0.0573 0.2550 0.2883 0.2515 het 876.12 67 11 6023581 . A G 876.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.651;DP=67;Dels=0.00;FS=2.213;HRun=0;HaplotypeScore=3.5545;MQ=59.31;MQ0=0;MQRankSum=1.268;QD=13.08;ReadPosRankSum=-1.809;VQSLOD=5.6622;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,30:67:99:906,0,1049 11 6023640 6023640 T C exonic OR56A4 nonsynonymous SNV OR56A4:NM_001005179:exon1:c.A739G:p.I247V 0.16 0.058 0.19 0.079 0.27 0.27 0.2451 0.1003 0.1633 0.0689 0.2486 0.2929 0.2489 0.2905 0.23 0.11 0.3 0.13 0.34 rs11040249 . . . . . . . . . . . . . 0.295 0.147 T 0.001 0.067 B 0.019 0.176 B 0.002 0.366 U 1 0.090 P 1.465 0.370 L 8.72 0.001 T -0.21 0.103 N 0.064 0.049 -1.023 0.228 T 0.000 0.000 T . . . 0.803 0.171 9.481 0.940 0.236 0.062 0.120 N c -0.555 -0.548 0.012 0.123 0.487 0.133 0 3.72 0.417 0.686 0.249 1.061 0.807 0.000 0.063 0.911 0.388 11.668 0.505 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2455 0.0950 0.1782 0.3228 0.0642 0.2524 0.2933 0.2460 0.2925 0.2192 0.1115 0.1998 0.3113 0.0586 0.2547 0.2882 0.2531 het 1280.63 111 11 6023640 . T C 1280.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.122;DP=111;Dels=0.00;FS=0.704;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=0.665;QD=11.54;ReadPosRankSum=-1.157;VQSLOD=6.4359;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,52:111:99:1311,0,1541 11 6023762 6023762 C T exonic OR56A4 nonsynonymous SNV OR56A4:NM_001005179:exon1:c.G617A:p.R206Q 0.0012 . 0.0014 . 0.005 . 0.0027 0.0010 0.0016 0 0.0002 0.0045 0.0011 0.0002 0.0035 0.0009 0.0048 . . rs17809527 . . . . . . . . . . . . . 0.016 0.518 D 0.875 0.461 P 0.499 0.458 P 0.004 0.337 U 0.949 0.265 N 4.3 0.983 H 1.2 0.374 T -3.59 0.692 D 0.244 0.298 -0.830 0.533 T 0.145 0.469 T 0.014 0.339 T 5.172 0.698 25.5 0.999 0.983 0.707 0.344 D c 0.021 -0.178 0.015 0.127 0.487 0.133 0 3.59 0.401 2.298 0.430 0.935 0.490 0.054 0.214 0.062 0.172 8.353 0.313 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0026 0.0007 0.0018 0.0007 0 0.0005 0.0049 0.0020 6.499e-05 0.0025 0.0011 0.0012 0.0033 0 0.0006 0.0039 0.0031 het 1183.25 83 11 6023762 . C T 1183.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.108;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2645;MQ=58.87;MQ0=0;MQRankSum=0.111;QD=14.26;ReadPosRankSum=-0.669;VQSLOD=5.8891;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,43:83:99:1213,0,1053 11 6023818 6023818 G A exonic OR56A4 synonymous SNV OR56A4:NM_001005179:exon1:c.C561T:p.Y187Y 0.16 0.058 0.19 0.079 0.27 0.26 0.2429 0.0997 0.1625 0.0677 0.2486 0.2921 0.2384 0.2805 0.23 0.11 0.3 0.13 0.33 rs10839221 COSM3998509 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2438 0.0946 0.1779 0.3177 0.0629 0.2526 0.2929 0.2444 0.2828 0.2189 0.1111 0.1993 0.3113 0.0573 0.2546 0.2879 0.2525 het 1558.94 105 11 6023818 . G A 1558.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.691;DP=105;Dels=0.00;FS=1.678;HRun=0;HaplotypeScore=0.0000;MQ=58.46;MQ0=0;MQRankSum=0.571;QD=14.85;ReadPosRankSum=1.890;VQSLOD=5.0911;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,59:105:99:1589,0,1342 11 6129837 6129837 C T exonic OR56B4 nonsynonymous SNV OR56B4:NM_001005181:exon1:c.C829T:p.P277S 0.5 0.1 0.6 0.88 0.45 0.64 0.5077 0.1637 0.7241 0.8511 0.5021 0.4559 0.5121 0.6046 0.36 0.17 0.45 0.43 0.53 rs1462983 COSM5001970 1(pancreas) . . . . . . . . . . . 0.072 0.349 T 0.999 0.764 D 0.987 0.759 D 0.002 0.365 U 1 0.090 P 3.015 0.864 M 8.82 0.000 T -5.18 0.835 D 0.085 0.080 -1.093 0.050 T 0.000 0.000 T . . . 2.634 0.378 20.4 0.996 0.729 0.229 0.217 N c -0.021 -0.191 0.000 0.058 0.487 0.133 0 4.01 0.457 -0.543 0.061 0.922 0.432 0.000 0.063 0.003 0.074 13.637 0.615 . . . 0.5222 0.1544 0.7080 0.4797 0.8512 0.4941 0.4529 0.5093 0.6060 0.3989 0.1646 0.6265 0.48 0.8582 0.4971 0.4434 0.4755 hom 5463.40 178 11 6129837 . C T 5463.40 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.0993;MQ=59.61;MQ0=0;QD=30.69;VQSLOD=8.9545;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5463,427,0 11 6221169 6221169 A G exonic OR52W1 nonsynonymous SNV OR52W1:NM_001005178:exon1:c.A716G:p.H239R 0.68 0.25 0.75 0.96 0.79 0.8 0.7559 0.3134 0.8323 0.9659 0.7574 0.7740 0.7687 0.7963 0.62 0.33 0.77 0.65 0.73 rs10839531 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.036 0.245 N 1 0.090 P -2.695 0.000 N 9.43 0.000 T 3.5 0.001 N 0.028 0.009 -0.983 0.343 T 0.000 0.000 T . . . -2.693 0.002 0.001 0.133 0.003 0.001 0.008 N c -1.781 -1.554 0.998 0.362 0.428 0.059 0 2.72 0.310 2.087 0.410 -0.907 0.026 0.093 0.224 0.010 0.111 8.326 0.311 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000110148.5|ENSG00000051009.6 Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7649 0.3036 0.8245 0.7895 0.9663 0.7462 0.7717 0.7744 0.7952 0.6568 0.3178 0.8074 0.7947 0.9696 0.7513 0.7781 0.7822 hom 7871.72 250 11 6221169 . A G 7871.72 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7424;MQ=59.57;MQ0=0;QD=31.49;VQSLOD=5.8455;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7870,695,0 11 6221214 6221214 T A exonic OR52W1 nonsynonymous SNV OR52W1:NM_001005178:exon1:c.T761A:p.L254Q 0.57 0.21 0.6 0.8 0.75 0.61 0.6795 0.2872 0.6097 0.8035 0.7198 0.7451 0.7137 0.6278 0.59 0.3 0.74 0.56 0.76 rs11040799 COSM3752570 1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.999 0.764 D 0.972 0.710 D 0.009 0.306 N 0.112 0.359 P 3.57 0.936 H 1.02 0.407 T -5.0 0.823 D 0.281 0.353 -0.965 0.381 T 0.000 0.000 T . . . 5.397 0.731 26.0 0.996 0.723 0.820 0.410 D c 0.569 0.445 1.000 0.747 0.428 0.059 0 5.11 0.691 2.592 0.456 0.952 0.539 0.069 0.218 0.998 0.697 14.368 0.662 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000051009.6 Whole_Blood 0.6825 0.2787 0.6117 0.7590 0.8014 0.7103 0.7431 0.7040 0.6255 0.6154 0.2936 0.6062 0.7715 0.7985 0.7145 0.7495 0.7260 hom 8663.11 250 11 6221214 . T A 8663.11 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6202;MQ=59.47;MQ0=0;QD=34.65;VQSLOD=8.7324;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8662,692,0 11 6231731 6231731 C T exonic C11orf42 nonsynonymous SNV C11orf42:NM_173525:exon2:c.C724T:p.P242S 0.62 0.36 0.72 0.81 0.75 0.56 0.7046 0.4292 0.8099 0.7950 0.7194 0.7481 0.7340 0.5725 0.64 0.44 0.74 0.67 0.61 rs10769671 COSM3752571 1(large_intestine) . . . . . . . . . . . 0.218 0.191 T 0.001 0.067 B 0.006 0.112 B 0.281 0.149 N 1 0.090 P 0.55 0.145 N 0.96 0.429 T -0.42 0.142 N 0.018 0.003 -1.020 0.236 T 0.000 0.000 T . . . -0.351 0.065 0.506 0.784 0.119 0.115 0.165 N c -0.600 -0.480 0.987 0.311 0.554 0.283 0 3.24 0.361 0.283 0.185 0.049 0.161 0.048 0.211 0.594 0.287 8.134 0.300 . ENSG00000110148.5|ENSG00000051009.6 Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7118 0.4199 0.7937 0.7759 0.7995 0.7088 0.7461 0.7389 0.5710 0.6584 0.4356 0.7679 0.7980 0.8051 0.7104 0.7466 0.7311 hom 3916.77 129 11 6231731 . C T 3916.77 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.705;DP=129;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.19;MQ0=0;MQRankSum=1.088;QD=30.36;ReadPosRankSum=-0.443;VQSLOD=8.9351;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,128:129:99:3916,319,0 11 6239139 6239139 A G exonic FAM160A2 synonymous SNV FAM160A2:NM_001098794:exon9:c.T1677C:p.R559R,FAM160A2:NM_032127:exon9:c.T1719C:p.R573R 0.11 0.011 0.12 0.046 0.23 0.17 0.1974 0.0422 0.0999 0.0427 0.2012 0.2549 0.2170 0.2080 0.18 0.047 0.25 0.098 0.18 rs11040809 COSM3752578 1(kidney);1(liver);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1935 0.0379 0.0985 0.2949 0.0447 0.1980 0.2527 0.2132 0.2074 0.1665 0.0430 0.1158 0.3113 0.0556 0.2007 0.2404 0.1967 het 1756.09 108 11 6239139 . A G 1756.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.680;DP=108;Dels=0.00;FS=2.160;HRun=1;HaplotypeScore=1.9953;MQ=59.01;MQ0=0;MQRankSum=-0.397;QD=16.26;ReadPosRankSum=-1.211;VQSLOD=5.6648;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,60:108:99:1786,0,1156 11 6243804 6243804 A G exonic FAM160A2 synonymous SNV FAM160A2:NM_001098794:exon6:c.T1059C:p.Y353Y,FAM160A2:NM_032127:exon6:c.T1059C:p.Y353Y 0.73 0.36 0.81 0.96 0.82 0.85 0.7924 0.4049 0.8893 0.9651 0.7689 0.8066 0.8029 0.8290 0.68 0.42 0.81 0.75 0.8 rs3750945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8013 0.3951 0.8771 0.8447 0.9644 0.7593 0.8055 0.8063 0.8292 0.6988 0.4048 0.8616 0.8676 0.9661 0.7622 0.8066 0.7969 hom 3811.35 116 11 6243804 . A G 3811.35 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.64;MQ0=0;QD=32.86;VQSLOD=10.0053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3811,292,0 11 6340416 6340416 G A exonic CAVIN3 nonsynonymous SNV CAVIN3:NM_145040:exon2:c.C763T:p.L255F 0.056 0.18 0.022 . 0.013 0.011 0.0267 0.1792 0.0110 0.0001 0.0122 0.0135 0.0230 0.0064 0.068 0.18 0.012 0.065 . rs12294600 . . . . . . . . . . . . . 0.011 0.555 D 0.852 0.450 P 0.452 0.444 P 0.780 0.095 N 0.989 0.244 P 1.955 0.530 M 0.36 0.579 T -0.71 0.219 N 0.192 0.235 -1.081 0.072 T 0.000 0.001 T . . . 3.047 0.426 22.4 0.997 0.805 0.391 0.259 N c 0.033 0.011 1.000 0.747 0.615 0.372 0 5.12 0.693 2.345 0.434 0.953 0.551 0.845 0.301 0.474 0.266 14.066 0.642 . . . 0.0252 0.1795 0.0140 0.0077 6.68e-05 0.0129 0.0139 0.0192 0.0063 0.0582 0.1735 0.0179 0.0066 0 0.0155 0.0133 0.0174 het 3984.58 243 11 6340416 . G A 3984.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.497;DP=243;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6126;MQ=58.88;MQ0=0;MQRankSum=-0.853;QD=16.40;ReadPosRankSum=0.311;VQSLOD=5.5263;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:126,117:243:99:3325,0,3494 11 6340706 6340706 A G exonic CAVIN3 nonsynonymous SNV CAVIN3:NM_145040:exon2:c.T473C:p.L158P 0.53 0.39 0.47 0.62 0.58 0.61 0.5650 0.4162 0.4524 0.6534 0.6493 0.5714 0.5716 0.6208 0.49 0.4 0.54 0.48 0.37 rs1051992 COSM429498 1(urinary_tract);1(thyroid) . . . . . . . . . . . 0.263 0.164 T 0.0 0.026 B 0.001 0.040 B 0.415 0.129 N 1.000 0.208 P -0.625 0.021 N 0.21 0.600 T 0.19 0.050 N 0.044 0.024 -0.933 0.437 T 0.000 0.000 T . . . 0.027 0.096 2.854 0.617 0.066 0.004 0.019 N c -1.666 -1.624 1.000 0.747 0.442 0.072 0 -3.56 0.043 -1.722 0.020 -0.430 0.058 0.000 0.063 0.008 0.104 3.969 0.089 . ENSG00000170955.9|ENSG00000170955.9|ENSG00000170955.9|ENSG00000170955.9|ENSG00000170955.9|ENSG00000170955.9|ENSG00000170955.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis 0.5508 0.3893 0.4549 0.5281 0.6485 0.6393 0.5563 0.5377 0.6131 0.5332 0.4019 0.4642 0.5397 0.6528 0.6304 0.5744 0.5869 het 507.37 42 11 6340706 . A G 507.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.289;DP=42;Dels=0.00;FS=12.708;HRun=1;HaplotypeScore=1.9992;MQ=60.00;MQ0=0;MQRankSum=1.238;QD=12.08;ReadPosRankSum=0.227;VQSLOD=4.2433;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,19:42:99:537,0,623 11 6341684 6341684 C G exonic CAVIN3 nonsynonymous SNV CAVIN3:NM_145040:exon1:c.G23C:p.R8P 0.95 0.86 0.97 1. 0.97 0.97 0.9690 0.8772 0.9842 0.9998 0.9948 0.9733 0.9691 0.9607 0.94 0.89 0.97 0.2 0.68 rs2682123 . . . . . . . . . . . . . 0.43 0.095 T 0.0 0.026 B 0.0 0.013 B 0.875 0.088 N 1 0.090 P -0.695 0.019 N 0.81 0.485 T 1.32 0.010 N 0.051 0.032 -1.017 0.246 T 0.000 0.000 T . . . 1.822 0.280 15.12 0.773 0.114 0.000 0.004 N c -1.132 -1.028 1.000 0.747 0.442 0.072 0 2.01 0.254 0.014 0.131 -0.291 0.083 0.000 0.063 0.006 0.095 3.901 0.086 . . . 0.9679 0.8768 0.9822 0.9050 0.9999 0.9938 0.9733 0.9665 0.9559 0.9521 0.8838 0.9773 0.9106 1 0.9923 0.9755 0.9703 hom 621.44 19 11 6341684 . C G 621.44 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;QD=32.71;VQSLOD=8.6710;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:54.16:654,54,0 11 6412931 6412931 T C exonic SMPD1 synonymous SNV SMPD1:NM_000543:exon2:c.T636C:p.D212D,SMPD1:NM_001007593:exon2:c.T633C:p.D211D,SMPD1:NM_001318087:exon2:c.T636C:p.D212D 0.13 0.21 0.099 0.004 0.12 0.17 0.1310 0.2022 0.0767 0.0041 0.1115 0.1374 0.1530 0.1756 0.15 0.18 0.13 0.2 0.016 rs7951904 COSM4146066;COSM4146067 2(thyroid) Benign|Likely benign not_specified|Sphingomyelin/cholesterol_lipidosis RCV000079197.6|RCV000321861.1 MedGen|MedGen:SNOMED_CT CN169374|C0028064:58459009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1236 0.1916 0.0767 0.1275 0.0039 0.1024 0.1369 0.1369 0.1737 0.1360 0.1813 0.0847 0.11 0.0013 0.0967 0.1389 0.1060 hom 1486.16 47 11 6412931 . T C 1486.16 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=31.62;VQSLOD=9.2710;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1519,117,0 11 6622714 6622714 G A exonic RRP8 synonymous SNV RRP8:NM_015324:exon3:c.C582T:p.N194N 0.74 0.39 0.79 0.91 0.86 0.87 0.8197 0.4480 0.8526 0.8760 0.7793 0.8587 0.8234 0.8576 0.73 0.48 0.86 0.69 0.87 rs2288283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8265 0.4443 0.8517 0.8273 0.8784 0.7805 0.8633 0.8342 0.8576 0.7354 0.4620 0.8233 0.8377 0.8782 0.7736 0.8563 0.8350 hom 3029.94 100 11 6622714 . G A 3029.94 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7220;MQ=59.63;MQ0=0;QD=30.30;VQSLOD=8.5161;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3063,247,0 11 6629665 6629665 C T exonic ILK synonymous SNV ILK:NM_001014795:exon3:c.C297T:p.H99H,ILK:NM_001014794:exon4:c.C297T:p.H99H,ILK:NM_001278441:exon4:c.C297T:p.H99H,ILK:NM_004517:exon4:c.C297T:p.H99H 0.31 0.42 0.26 0.35 0.25 0.24 0.2677 0.3834 0.2057 0.3436 0.2525 0.2634 0.2313 0.2243 0.29 0.38 0.25 0.39 0.18 rs1043388 COSM3752661 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) Benign not_specified RCV000125415.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2613 0.3817 0.2051 0.2843 0.3443 0.2439 0.2605 0.2477 0.2272 0.2953 0.3774 0.2053 0.3079 0.3455 0.2407 0.2609 0.2755 het 1204.64 114 11 6629665 . C T 1204.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.345;DP=114;Dels=0.00;FS=1.507;HRun=0;HaplotypeScore=3.8009;MQ=59.12;MQ0=0;MQRankSum=0.859;QD=10.57;ReadPosRankSum=-0.528;VQSLOD=6.2384;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,50:114:99:1235,0,1683 11 6630833 6630833 G A exonic ILK synonymous SNV ILK:NM_001278441:exon7:c.G636A:p.P212P,ILK:NM_001014795:exon8:c.G819A:p.P273P,ILK:NM_001278442:exon8:c.G417A:p.P139P,ILK:NM_001014794:exon9:c.G819A:p.P273P,ILK:NM_004517:exon9:c.G819A:p.P273P 0.35 0.53 0.27 0.35 0.26 0.25 0.2782 0.4799 0.2111 0.3454 0.2528 0.2642 0.2384 0.2323 0.33 0.47 0.25 0.46 0.18 rs1043390 COSM3752664 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000125417.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2696 0.4756 0.2109 0.2849 0.3444 0.2441 0.2615 0.2559 0.2348 0.3227 0.4732 0.2076 0.3079 0.3462 0.2414 0.2613 0.2787 het 3101.08 234 11 6630833 . G A 3101.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.844;DP=234;DS;Dels=0.00;FS=6.247;HRun=0;HaplotypeScore=3.9473;MQ=59.26;MQ0=0;MQRankSum=0.319;QD=13.25;ReadPosRankSum=0.328;VQSLOD=4.8865;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:119,115:234:99:3131,0,3250 11 6636106 6636106 T A exonic TPP1 synonymous SNV TPP1:NM_000391:exon12:c.A1542T:p.G514G 0.23 0.23 0.21 0.35 0.16 0.2 0.1933 0.2199 0.1748 0.3482 0.1468 0.1800 0.1784 0.1814 0.19 0.22 0.17 0.29 0.11 rs1128396 COSM3752668 1(large_intestine) other|Benign not_specified|Neuronal_Ceroid-Lipofuscinosis\x2c_Recessive RCV000118652.3|RCV000395501.1 MedGen|MedGen CN169374|CN239323 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1903 0.2199 0.1781 0.2386 0.3496 0.1416 0.1727 0.1926 0.1832 0.1865 0.2204 0.1755 0.2815 0.3594 0.1360 0.1604 0.1622 het 2891.04 246 11 6636106 . T A 2891.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.050;DP=246;DS;Dels=0.00;FS=9.276;HRun=0;HaplotypeScore=7.0692;MQ=58.87;MQ0=0;MQRankSum=-0.122;QD=11.75;ReadPosRankSum=0.136;VQSLOD=4.2822;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,113:246:99:2921,0,3446 11 6648424 6648424 G A exonic DCHS1 nonsynonymous SNV DCHS1:NM_003737:exon14:c.C5846T:p.T1949M 0.3 0.12 0.34 0.42 0.37 0.3 0.3559 0.1571 0.3449 0.4491 0.3924 0.3875 0.3422 0.2974 0.3 0.17 0.37 0.35 . rs4758443 COSM1356235 1(thyroid);1(large_intestine) Benign not_specified RCV000250834.1 MedGen CN169374 . . . . . . 0.2 0.203 T 0.023 0.176 B 0.01 0.139 B 0.000 0.481 D 1.000 0.189 P 2.09 0.581 M 4.61 0.019 T -2.24 0.501 N 0.068 0.055 -0.948 0.413 T 0.000 0.000 T . . . -0.936 0.034 0.022 0.836 0.143 0.326 0.244 N c -0.938 -0.932 0.994 0.333 0.707 0.730 0 2.32 0.278 0.768 0.261 -0.760 0.034 0.261 0.247 0.468 0.265 5.963 0.184 Cadherin|Cadherin conserved site|Cadherin-like ENSG00000166333.9|ENSG00000254400.1|ENSG00000254641.1|ENSG00000255390.1|ENSG00000166341.6|ENSG00000166340.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal 0.3558 0.1484 0.3450 0.4025 0.4437 0.3960 0.3770 0.3649 0.2989 0.3210 0.1585 0.3146 0.3742 0.4480 0.3919 0.3832 0.3432 het 993.98 79 11 6648424 . G A 993.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.974;DP=79;Dels=0.00;FS=0.856;HRun=0;HaplotypeScore=1.8490;MQ=59.10;MQ0=0;MQRankSum=0.085;QD=12.58;ReadPosRankSum=1.295;VQSLOD=6.2611;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,39:79:99:1024,0,1013 11 6652618 6652618 C T exonic DCHS1 synonymous SNV DCHS1:NM_003737:exon8:c.G3696A:p.P1232P 0.45 0.59 0.41 0.43 0.38 0.38 0.4153 0.5651 0.3985 0.4540 0.3970 0.4033 0.3907 0.3699 0.45 0.56 0.39 0.55 . rs2659871 COSM1356255 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000242869.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4083 0.5594 0.3974 0.4232 0.4508 0.4012 0.3951 0.4054 0.3694 0.4466 0.5576 0.3780 0.4060 0.4560 0.3997 0.4009 0.3801 het 2342.88 193 11 6652618 . C T 2342.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.520;DP=193;DS;Dels=0.00;FS=4.338;HRun=0;HaplotypeScore=7.0112;MQ=59.35;MQ0=0;MQRankSum=-0.097;QD=12.14;ReadPosRankSum=-1.283;VQSLOD=4.5748;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,87:193:99:2373,0,2720 11 6655433 6655433 G A exonic DCHS1 synonymous SNV DCHS1:NM_003737:exon3:c.C1902T:p.H634H 0.35 0.26 0.36 0.43 0.38 0.34 0.3750 0.2781 0.3499 0.4520 0.3861 0.3950 0.3639 0.3284 0.35 0.29 0.38 0.36 . rs997263 . . Benign not_specified RCV000246366.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3731 0.2743 0.3518 0.4144 0.4491 0.3917 0.3861 0.3756 0.3285 0.3604 0.2798 0.3313 0.38 0.4530 0.3922 0.3916 0.3538 het 2000.39 154 11 6655433 . G A 2000.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.482;DP=154;Dels=0.00;FS=8.442;HRun=0;HaplotypeScore=3.7756;MQ=59.09;MQ0=0;MQRankSum=0.358;QD=12.99;ReadPosRankSum=0.040;VQSLOD=5.0283;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,81:154:99:2030,0,1856 11 6790106 6790106 T C exonic OR2AG2 nonsynonymous SNV OR2AG2:NM_001004490:exon1:c.A83G:p.Y28C 0.88 0.9 0.84 0.93 0.81 0.88 0.8537 0.9006 0.8368 0.9444 0.8370 0.8317 0.8601 0.8842 0.86 0.9 0.83 0.88 0.8 rs7102536 . . . . . . . . . . . . . 0.596 0.057 T 0.0 0.026 B 0.0 0.013 B 0.001 0.397 N 1.000 0.182 P -0.27 0.037 N 4.01 0.032 T 1.37 0.009 N 0.062 0.049 -1.036 0.186 T 0.000 0.000 T . . . 0.313 0.124 5.821 0.194 0.007 0.012 0.043 N c -0.855 -0.774 0.000 0.055 0.497 0.185 0 3.36 0.374 -0.019 0.124 0.008 0.138 0.000 0.063 0.909 0.387 5.400 0.155 . . . 0.8496 0.8994 0.8340 0.775 0.9440 0.8348 0.8334 0.8257 0.8867 0.8674 0.8988 0.8043 0.7848 0.9438 0.8453 0.8528 0.8425 hom 3594.13 112 11 6790106 . T C 3594.13 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=56.32;MQ0=0;QD=32.09;VQSLOD=6.6677;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3594,277,0 11 6816778 6816778 A G exonic OR6A2 synonymous SNV OR6A2:NM_003696:exon1:c.T162C:p.S54S 0.69 0.48 0.59 0.82 0.8 0.81 0.7306 0.5275 0.5251 0.8365 0.7530 0.7616 0.7863 0.8089 0.69 0.52 0.77 0.6 0.7 rs866347 COSM1179746 2(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7270 0.5203 0.5303 0.8066 0.8333 0.7479 0.7626 0.7512 0.8103 0.6785 0.5247 0.5573 0.7781 0.8352 0.7309 0.7398 0.7357 het 2419.25 182 11 6816778 . A G 2419.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.850;DP=182;Dels=0.00;FS=0.562;HRun=1;HaplotypeScore=8.5791;MQ=59.26;MQ0=0;MQRankSum=0.004;QD=13.29;ReadPosRankSum=-2.436;VQSLOD=3.7748;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,90:182:99:2449,0,2363 11 6816792 6816792 T C exonic OR6A2 nonsynonymous SNV OR6A2:NM_003696:exon1:c.A148G:p.I50V 0.017 0.0008 0.01 . 0.029 0.047 0.0302 0.0062 0.0098 0.0002 0.0401 0.0355 0.0308 0.0496 0.025 0.008 0.034 . 0.057 rs61741824 COSM3752690 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.092 0.203 N 1 0.090 N 0.865 0.215 L 3.27 0.066 T 0.05 0.064 N 0.075 0.065 -0.961 0.390 T 0.003 0.010 T . . . -4.138 0.000 0.001 0.115 0.002 0.048 0.103 N c -2.188 -2.192 0.001 0.077 0.487 0.133 0 -6.02 0.020 -1.542 0.023 -2.514 0.003 0.000 0.063 0.000 0.016 12.870 0.572 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0291 0.0050 0.0088 0.0281 0.0002 0.0391 0.0353 0.0263 0.0502 0.0262 0.0061 0.0108 0.0331 0 0.0409 0.0375 0.0337 het 2643.82 185 11 6816792 . T C 2643.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.503;DP=185;Dels=0.00;FS=1.139;HRun=0;HaplotypeScore=5.0651;MQ=59.55;MQ0=0;MQRankSum=-0.218;QD=14.29;ReadPosRankSum=2.210;VQSLOD=4.4288;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,95:185:99:2674,0,2383 11 6816872 6816872 G T exonic OR6A2 nonsynonymous SNV OR6A2:NM_003696:exon1:c.C68A:p.P23Q . . . . . . 0.0010 0.0006 0.0003 0 0.0005 0.0015 0 0.0004 0.0014 . 0.0021 . . rs139474625 . . . . . . . . . . . . . 0.495 0.079 T 0.981 0.577 D 0.593 0.487 P 0.535 0.116 N 1 0.090 N -0.405 0.030 N 7.45 0.004 T 0.03 0.066 N 0.371 0.432 -0.707 0.601 T 0.001 0.002 T 0.014 0.346 T -0.501 0.055 0.218 0.888 0.177 0.013 0.045 N c -0.552 -0.608 0.000 0.052 0.487 0.133 0 3.93 0.445 0.360 0.198 0.050 0.161 0.000 0.063 0.001 0.043 8.367 0.314 . . . 0.0011 0.0007 0.0003 0 0 0.0006 0.0019 0.0007 0.0004 0.0017 0.0010 0.0024 0 0 0.0006 0.0025 0.0031 het 1871.44 148 11 6816872 . G T 1871.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.417;DP=148;Dels=0.00;FS=6.081;HRun=1;HaplotypeScore=5.8704;MQ=58.60;MQ0=0;MQRankSum=1.812;QD=12.64;ReadPosRankSum=0.405;VQSLOD=2.8954;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,71:148:99:1901,0,2151 11 6816875 6816875 G A exonic OR6A2 nonsynonymous SNV OR6A2:NM_003696:exon1:c.C65T:p.A22V 0.31 0.19 0.27 0.46 0.29 0.38 0.2991 0.2241 0.2825 0.4839 0.2300 0.2801 0.2930 0.3661 0.26 0.22 0.28 0.28 0.21 rs7122644 COSM3752691 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.569 0.062 T 0.001 0.067 B 0.0 0.013 B 0.867 0.071 N 1 0.090 P 0.825 0.210 L 7.44 0.004 T 0.04 0.065 N 0.02 0.004 -0.979 0.352 T 0.000 0.000 T . . . -2.070 0.007 0.001 0.582 0.058 0.009 0.034 N c -2.099 -2.191 0.964 0.287 0.487 0.133 0 -9.9 0.004 -3.043 0.007 -0.943 0.024 0.000 0.063 0.000 0.016 15.104 0.719 . . . 0.2979 0.2220 0.2782 0.2394 0.4897 0.2286 0.2842 0.2917 0.3689 0.2789 0.2297 0.2644 0.2384 0.4981 0.2363 0.2956 0.2776 het 1949.23 147 11 6816875 . G A 1949.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.462;DP=147;Dels=0.00;FS=4.948;HRun=0;HaplotypeScore=5.8704;MQ=58.41;MQ0=0;MQRankSum=-0.526;QD=13.26;ReadPosRankSum=-0.609;VQSLOD=4.6817;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,74:147:99:1979,0,1846 11 6891704 6891704 T C exonic OR10A2 nonsynonymous SNV OR10A2:NM_001004460:exon1:c.T719C:p.I240T 0.31 0.2 0.29 0.41 0.33 0.36 0.3019 0.2307 0.2817 0.4315 0.3353 0.2879 0.2896 0.3367 0.27 0.24 0.28 0.3 0.17 rs10839632 COSM3998557 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.013 0.538 D 0.0 0.026 B 0.002 0.063 B 0.015 0.284 N 1.000 0.186 P -0.02 0.051 N 1.17 0.379 T 1.71 0.006 N 0.049 0.030 -0.946 0.417 T 0.000 0.000 T . . . 1.224 0.213 11.87 0.853 0.153 0.094 0.150 N c -0.978 -0.898 0.000 0.029 0.554 0.246 0 1.6 0.226 0.536 0.227 0.119 0.209 0.000 0.063 0.245 0.227 9.393 0.374 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3016 0.2292 0.2761 0.1738 0.4439 0.3300 0.2939 0.2749 0.3386 0.2921 0.2389 0.2440 0.1788 0.4616 0.3285 0.3004 0.3061 het 4488.96 250 11 6891704 . T C 4488.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.114;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6495;MQ=57.65;MQ0=0;MQRankSum=3.933;QD=17.96;ReadPosRankSum=-0.674;VQSLOD=2.3519;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:115,135:250:99:3844,0,2863 11 6891758 6891758 A C exonic OR10A2 nonsynonymous SNV OR10A2:NM_001004460:exon1:c.A773C:p.K258T 0.32 0.21 0.37 0.31 0.36 0.43 0.3533 0.2039 0.2934 0.2740 0.3802 0.3823 0.3150 0.4053 0.31 0.2 0.37 0.28 0.48 rs7926083 . . . . . . . . . . . . . 0.023 0.481 D 0.999 0.764 D 0.993 0.797 D 0.001 0.414 D 0.791 0.292 P 1.27 0.322 L 8.71 0.001 T -2.64 0.566 D 0.219 0.284 -0.606 0.646 T 0.000 0.000 T . . . 3.997 0.537 23.6 0.997 0.800 0.534 0.291 D c 0.059 -0.058 0.001 0.086 0.500 0.196 0 4.18 0.483 1.468 0.347 1.191 0.909 0.001 0.137 0.646 0.298 11.568 0.499 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3541 0.2055 0.3098 0.3623 0.2735 0.3843 0.3806 0.3657 0.3991 0.3223 0.1994 0.3357 0.3808 0.2772 0.3848 0.3785 0.3786 het 3062.44 245 11 6891758 . A C 3062.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.534;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6809;MQ=58.75;MQ0=0;MQRankSum=0.381;QD=12.50;ReadPosRankSum=0.462;VQSLOD=6.4811;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,121:245:99:3092,0,3576 11 6898663 6898663 G A exonic OR10A4 nonsynonymous SNV OR10A4:NM_207186:exon1:c.G785A:p.R262Q 0.31 0.2 0.29 0.4 0.33 0.36 0.3007 0.2308 0.2811 0.4276 0.3351 0.2870 0.2881 0.3344 0.27 0.24 0.28 0.29 0.16 rs10839635 COSM3998558 1(breast);3(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid) . . . . . . . . . . . 0.392 0.107 T 0.907 0.481 P 0.627 0.498 P 0.002 0.373 N 0.973 0.255 P 0.415 0.125 N 1.21 0.372 T -2.16 0.488 N 0.238 0.291 -0.978 0.355 T 0.000 0.000 T . . . 2.643 0.379 20.5 0.997 0.834 0.330 0.245 N c -0.172 -0.219 0.001 0.084 0.487 0.133 0 4.04 0.461 1.309 0.329 1.031 0.654 0.005 0.169 0.078 0.180 7.878 0.286 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3007 0.2289 0.2758 0.1738 0.4409 0.3298 0.2932 0.2740 0.3366 0.2918 0.2391 0.2434 0.1788 0.4612 0.3285 0.2998 0.3061 het 2440.01 177 11 6898663 . G A 2440.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.010;DP=177;Dels=0.00;FS=13.274;HRun=1;HaplotypeScore=4.6175;MQ=59.35;MQ0=0;MQRankSum=0.145;QD=13.79;ReadPosRankSum=-1.545;VQSLOD=3.8621;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,87:177:99:2470,0,2223 11 6898758 6898758 A C exonic OR10A4 synonymous SNV OR10A4:NM_207186:exon1:c.A880C:p.R294R 0.15 0.033 0.27 0.14 0.19 0.18 0.2052 0.0564 0.2182 0.1311 0.2387 0.2371 0.1751 0.1871 0.17 0.062 0.23 0.14 0.3 rs7102808 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2085 0.0548 0.2247 0.2038 0.1365 0.2437 0.2360 0.2047 0.1847 0.1911 0.0601 0.2208 0.2119 0.1275 0.2560 0.2542 0.2327 het 2881.40 239 11 6898758 . A C 2881.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.379;DP=239;DS;Dels=0.00;FS=1.581;HRun=0;HaplotypeScore=5.8869;MQ=59.14;MQ0=0;MQRankSum=2.551;QD=12.06;ReadPosRankSum=0.362;VQSLOD=4.4469;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:120,119:239:99:2911,0,3227 11 6913127 6913127 A G exonic OR2D2 nonsynonymous SNV OR2D2:NM_003700:exon1:c.T605C:p.M202T 0.38 0.12 0.57 0.43 0.5 0.41 0.5046 0.1730 0.6198 0.4320 0.5085 0.5576 0.5463 0.4533 0.43 0.18 0.56 0.32 0.63 rs2741804 COSM4997950 1(pancreas) . . . . . . . . . . . 0.149 0.247 T 0.002 0.090 B 0.009 0.133 B 0.006 0.322 N 0.904 0.276 P 0.185 0.091 N 8.78 0.001 T -3.91 0.730 D 0.084 0.080 -1.097 0.045 T 0.000 0.000 T . . . -0.113 0.083 1.633 0.344 0.021 0.195 0.205 N c -0.861 -0.769 0.001 0.084 0.487 0.133 0 3.96 0.449 1.023 0.295 0.216 0.254 0.000 0.063 0.695 0.308 5.614 0.166 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5156 0.1661 0.6154 0.6351 0.4232 0.5177 0.5529 0.5386 0.4543 0.4435 0.1744 0.6091 0.6490 0.3942 0.5324 0.5669 0.5164 het 779.06 66 11 6913127 . A G 779.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.085;DP=66;Dels=0.00;FS=11.257;HRun=0;HaplotypeScore=2.7041;MQ=59.30;MQ0=0;MQRankSum=-0.755;QD=11.80;ReadPosRankSum=-0.558;VQSLOD=4.4260;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:809,0,908 11 6913244 6913244 A G exonic OR2D2 nonsynonymous SNV OR2D2:NM_003700:exon1:c.T488C:p.I163T 0.94 0.8 0.98 1. 1. 1. 0.9834 0.8345 0.9916 1 1 0.9973 0.9879 0.9999 0.95 0.85 1. 0.73 1. rs1965208 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.003 0.359 N 0.999 0.215 P -0.255 0.038 N 9.08 0.000 T 3.91 0.001 N 0.035 0.015 -0.903 0.477 T 0.000 0.000 T . . . 0.330 0.126 5.976 0.189 0.006 0.021 0.061 N c -1.028 -0.864 0.008 0.116 0.487 0.133 0 4.21 0.488 0.045 0.138 0.125 0.212 0.000 0.063 0.978 0.483 10.194 0.420 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9863 0.8294 0.9912 0.9764 1 1 0.9985 0.9897 0.9996 0.9542 0.8420 0.9809 0.9901 1 1 0.9991 0.9929 hom 3543.57 99 11 6913244 . A G 3543.57 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5226;MQ=58.87;MQ0=0;QD=35.79;VQSLOD=8.7456;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3543,283,0 11 6913290 6913290 A G exonic OR2D2 nonsynonymous SNV OR2D2:NM_003700:exon1:c.T442C:p.S148P 0.15 0.033 0.26 0.14 0.19 0.19 0.2030 0.0555 0.2182 0.1318 0.2264 0.2330 0.1707 0.1935 0.17 0.061 0.22 0.14 0.3 rs1965209 . . . . . . . . . . . . . 0.007 0.599 D 0.993 0.637 D 0.876 0.604 P 0.027 0.257 N 0.810 0.290 P 2 0.545 M 1.11 0.389 T -3.75 0.711 D 0.27 0.387 -1.113 0.028 T 0.000 0.000 T . . . 4.341 0.581 24.0 0.997 0.834 0.958 0.658 D c 0.644 0.617 0.047 0.147 0.487 0.133 0 5.12 0.693 3.468 0.526 1.179 0.904 0.995 0.385 0.967 0.454 13.229 0.592 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2059 0.0541 0.2252 0.1949 0.1365 0.2323 0.2318 0.2027 0.1911 0.1879 0.0594 0.2208 0.2219 0.1315 0.2441 0.2503 0.2316 het 1907.66 156 11 6913290 . A G 1907.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.566;DP=156;Dels=0.00;FS=9.558;HRun=1;HaplotypeScore=5.5677;MQ=59.14;MQ0=0;MQRankSum=1.447;QD=12.23;ReadPosRankSum=-1.074;VQSLOD=4.2851;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,66:156:99:1938,0,2285 11 6942695 6942695 C T exonic OR2D3 nonsynonymous SNV OR2D3:NM_001004684:exon1:c.C463T:p.R155W 0.17 0.041 0.17 0.21 0.16 0.32 0.1894 0.0651 0.1864 0.2065 0.1764 0.1810 0.1905 0.3025 0.14 0.07 0.18 0.13 0.14 rs12806437 COSM147132 1(stomach) . . . . . . . . . . . 0.114 0.286 T 0.161 0.267 B 0.052 0.241 B 0.047 0.020 N 1 0.090 P 1.555 0.395 L 5.51 0.010 T -5.26 0.841 D 0.044 0.024 -0.932 0.439 T 0.000 0.000 T . . . 1.498 0.242 13.30 0.764 0.111 0.080 0.138 N c -0.922 -1.038 1.000 0.462 0.554 0.246 0 -2.95 0.052 -1.674 0.020 0.068 0.175 0.000 0.063 0.031 0.148 4.001 0.090 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.1891 0.0638 0.1791 0.2011 0.2123 0.1765 0.1781 0.1670 0.2989 0.1492 0.0672 0.1659 0.2252 0.2166 0.1856 0.1760 0.1925 hom 5418.56 162 11 6942695 . C T 5418.56 Mask AC=2;AF=1.00;AN=2;DP=162;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.2434;MQ=59.29;MQ0=0;QD=33.45;VQSLOD=9.8889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5418,436,0 11 6976988 6976988 A T exonic ZNF215 synonymous SNV ZNF215:NM_013250:exon7:c.A780T:p.G260G 0.68 0.44 0.79 0.71 0.72 0.83 0.7343 0.4926 0.8236 0.7345 0.7257 0.7370 0.7257 0.8164 0.66 0.49 0.74 0.58 0.7 rs2239731 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7398 0.4818 0.8147 0.6992 0.7320 0.7359 0.7410 0.7271 0.8098 0.6757 0.4977 0.7715 0.7318 0.7202 0.7388 0.7508 0.7127 het 1656.31 136 11 6976988 . A T 1656.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.478;DP=136;Dels=0.00;FS=1.394;HRun=0;HaplotypeScore=4.7755;MQ=59.02;MQ0=0;MQRankSum=-1.798;QD=12.18;ReadPosRankSum=-0.773;VQSLOD=3.8584;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,66:136:99:1686,0,1740 11 6977175 6977175 G C exonic ZNF215 nonsynonymous SNV ZNF215:NM_013250:exon7:c.G967C:p.V323L 0.2 0.35 0.13 0.14 0.23 0.05 0.1932 0.3383 0.1049 0.1381 0.2424 0.2179 0.2020 0.0753 0.25 0.33 0.21 0.32 0.2 rs2239730 COSM1356621 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.25 0.171 T 0.0 0.026 B 0.0 0.013 B 0.759 0.065 N 1 0.090 P 0 0.065 N 3.47 0.052 T 0.09 0.059 N 0.048 0.029 -0.903 0.477 T 0.000 0.000 T . . . 0.070 0.100 3.295 0.810 0.130 0.002 0.012 N c -1.122 -1.104 0.796 0.241 0.638 0.428 0 2.5 0.292 -1.405 0.026 -0.084 0.118 0.000 0.063 0.021 0.135 9.256 0.366 . ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10|ENSG00000149054.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.1891 0.3450 0.1118 0.2484 0.1395 0.2326 0.2147 0.2021 0.0769 0.2426 0.3349 0.1539 0.2285 0.1386 0.2248 0.2111 0.2194 het 962.37 63 11 6977175 . G C 962.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.469;DP=63;Dels=0.00;FS=0.949;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=0.851;QD=15.28;ReadPosRankSum=0.090;VQSLOD=6.0876;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,35:63:99:992,0,702 11 7022038 7022038 A G exonic ZNF214 synonymous SNV ZNF214:NM_013249:exon3:c.T876C:p.F292F 0.2 0.012 0.31 0.24 0.23 0.31 0.2370 0.0430 0.2512 0.2642 0.2685 0.2401 0.2677 0.3089 0.17 0.048 0.24 0.13 0.17 rs12575236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2388 0.0407 0.2431 0.2680 0.2645 0.2690 0.2351 0.2359 0.3021 0.1865 0.0403 0.2254 0.2616 0.2800 0.2706 0.2352 0.2388 hom 3188.48 102 11 7022038 . A G 3188.48 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.528;DP=102;Dels=0.00;FS=3.458;HRun=1;HaplotypeScore=1.9840;MQ=56.76;MQ0=0;MQRankSum=0.306;QD=31.26;ReadPosRankSum=-0.374;VQSLOD=4.4933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,101:102:99:3221,227,0 11 7022160 7022160 A G exonic ZNF214 nonsynonymous SNV ZNF214:NM_013249:exon3:c.T754C:p.C252R 0.91 0.73 0.96 1. 0.97 0.96 0.9512 0.7428 0.9627 0.9994 0.9929 0.9694 0.9515 0.9581 0.89 0.75 0.97 0.91 0.98 rs2857919 . . . . . . . . . . . . . 0.094 0.313 T 0.001 0.067 B 0.001 0.040 B 0.142 0.182 N 0.987 0.246 P 5.11 0.999 H 1.05 0.400 T -8.68 0.976 D 0.04 0.026 -0.962 0.387 T 0.000 0.000 T . . . -0.796 0.040 0.044 0.663 0.078 0.340 0.247 N c -0.811 -0.970 0.744 0.232 0.638 0.428 0 1.37 0.211 2.397 0.439 -1.778 0.007 0.035 0.205 0.002 0.062 0.860 0.011 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9557 0.7394 0.9643 0.9306 0.9991 0.9931 0.9706 0.9495 0.9582 0.9132 0.7458 0.9665 0.9338 1 0.9928 0.9756 0.9714 hom 1856.20 58 11 7022160 . A G 1856.20 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=56.23;MQ0=0;QD=32.00;VQSLOD=6.6103;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1889,153,0 11 7022531 7022531 A T exonic ZNF214 nonsynonymous SNV ZNF214:NM_013249:exon3:c.T383A:p.L128H 0.58 0.36 0.63 0.71 0.62 0.65 0.6266 0.3715 0.6068 0.7455 0.7299 0.6353 0.6410 0.6616 0.55 0.4 0.63 0.52 0.51 rs1156525 . . . . . . . . . . . . . 0.541 0.068 T 0.0 0.026 B 0.0 0.013 B 0.489 0.050 N 1 0.090 P -0.345 0.033 N 3.28 0.065 T 0.62 0.024 N 0.044 0.078 -1.033 0.196 T 0.000 0.000 T . . . -2.253 0.005 0.001 0.149 0.003 0.010 0.038 N c -1.888 -1.908 0.910 0.263 0.554 0.283 0 -3.27 0.047 -1.127 0.033 -1.099 0.018 0.000 0.063 0.028 0.145 2.265 0.038 . . . 0.6310 0.3678 0.6051 0.6203 0.7446 0.7236 0.6322 0.6205 0.6603 0.5770 0.3672 0.5897 0.5960 0.7598 0.7246 0.6387 0.6595 hom 3082.95 96 11 7022531 . A T 3082.95 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;QD=32.11;VQSLOD=8.8169;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3116,262,0 11 7022717 7022717 T C exonic ZNF214 nonsynonymous SNV ZNF214:NM_013249:exon3:c.A197G:p.Y66C 0.59 0.42 0.64 0.71 0.62 0.65 0.6323 0.4198 0.6101 0.7465 0.7301 0.6369 0.6413 0.6621 0.55 0.41 0.62 0.56 0.31 rs1156526 COSM3998564 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.219 0.162 N 1 0.090 P -0.85 0.015 N 3.49 0.051 T 4.16 0.000 N 0.059 0.176 -1.052 0.138 T 0.000 0.000 T . . . -0.794 0.040 0.044 0.038 0.000 0.001 0.004 N c -1.271 -1.265 0.662 0.223 0.554 0.246 0 -0.007 0.133 -1.805 0.018 -0.479 0.053 0.000 0.063 0.705 0.310 0.893 0.012 Krueppel-associated box . . 0.6352 0.4149 0.6085 0.6219 0.7450 0.7235 0.6329 0.6251 0.6615 0.5909 0.4154 0.5940 0.5960 0.7602 0.7242 0.6391 0.6626 hom 3487.14 99 11 7022717 . T C 3487.14 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.148;DP=99;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9967;MQ=57.96;MQ0=0;MQRankSum=1.545;QD=35.22;ReadPosRankSum=2.374;VQSLOD=6.6634;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,96:99:99:3380,205,0 11 7059960 7059960 A C exonic NLRP14 nonsynonymous SNV NLRP14:NM_176822:exon2:c.A143C:p.N48T 0.97 0.88 0.99 1. 1. 1. 0.9896 0.8869 0.9949 1 1 0.9996 0.9934 1 0.96 0.89 1. 0.95 0.97 rs12801277 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.913 0.085 N 1 0.090 P -2.57 0.000 N 0.87 0.464 T 2.16 0.003 N 0.01 0.001 -0.989 0.328 T 0.000 0.000 T . . . -1.550 0.016 0.002 0.646 0.073 0.003 0.018 N c -1.889 -1.734 0.000 0.035 0.487 0.133 0 2.36 0.281 0.093 0.148 -1.935 0.005 0.000 0.063 0.128 0.199 7.225 0.250 DAPIN domain|Death-like domain . . 0.9917 0.8828 0.9947 0.9999 1 1 0.9997 0.9962 0.9999 0.9702 0.8952 0.9940 1 1 1 0.9999 0.9949 hom 2328 67 11 7059960 . A C 2328 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.00;MQ0=0;QD=34.75;VQSLOD=9.8921;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2361,187,0 11 7063755 7063755 C T exonic NLRP14 synonymous SNV NLRP14:NM_176822:exon4:c.C498T:p.F166F 0.96 0.85 0.99 1. 1. 1. 0.9864 0.8654 0.9923 1 1 0.9976 0.9923 0.9999 0.96 0.87 1. 0.96 0.98 rs7123944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9885 0.8613 0.9896 0.9850 1 1 0.9987 0.9896 0.9998 0.9627 0.8715 0.9905 0.9801 1 1 0.9991 0.9939 hom 3710.22 112 11 7063755 . C T 3710.22 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7480;MQ=59.59;MQ0=0;QD=33.13;VQSLOD=9.5735;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:112:99:3710,292,0 11 7071031 7071031 G A exonic NLRP14 synonymous SNV NLRP14:NM_176822:exon6:c.G2253A:p.E751E 0.94 0.76 0.98 1. 1. 1. 0.9802 0.7870 0.9906 1 1 0.9992 0.9846 0.9996 0.93 0.79 1. 0.96 0.98 rs1552726 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9841 0.7771 0.9897 0.9999 1 1.0000 0.9991 0.9925 0.9994 0.9411 0.7945 0.9869 1 1 1 0.9993 0.9878 hom 7305.90 240 11 7071031 . G A 7305.90 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=240;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2827;MQ=59.13;MQ0=0;MQRankSum=1.558;QD=30.44;ReadPosRankSum=0.471;VQSLOD=8.4467;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,238:240:99:7305,548,0 11 7079038 7079038 G A exonic NLRP14 nonsynonymous SNV NLRP14:NM_176822:exon7:c.G2422A:p.E808K 0.57 0.35 0.61 0.71 0.6 0.64 0.6051 0.3640 0.6069 0.7486 0.7078 0.6030 0.6200 0.6473 0.51 0.36 0.59 0.53 0.48 rs10839708 . . . . . . . . . . . . . 0.071 0.351 T 0.955 0.525 P 0.721 0.531 P 0.000 0.443 D 0.226 0.342 P 1.9 0.507 L 1.0 0.414 T -1.86 0.435 N 0.174 0.211 -0.966 0.381 T 0.000 0.000 T . . . 6.777 0.923 32 0.999 0.966 0.636 0.319 D c 0.318 0.313 1.000 0.747 0.487 0.133 0 3.98 0.452 3.225 0.507 1.048 0.713 1.000 0.715 0.958 0.437 9.472 0.378 Leucine-rich repeat domain\x2c L domain-like . . 0.6112 0.3618 0.6031 0.6136 0.7490 0.7007 0.5991 0.6037 0.6465 0.5544 0.3606 0.5795 0.5662 0.7669 0.7062 0.6022 0.6322 hom 2312.49 80 11 7079038 . G A 2312.49 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=57.68;MQ0=0;QD=28.91;VQSLOD=7.7601;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2345,181,0 11 7324475 7324475 T C exonic SYT9 synonymous SNV SYT9:NM_175733:exon2:c.T351C:p.D117D 0.98 0.92 1. 1. 1. 1. 0.9940 0.9337 0.9983 1 1 0.9999 0.9945 0.9998 0.98 0.94 1. 0.95 0.98 rs4412741 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9335 0.9975 1 1 1 0.9999 0.9965 0.9998 0.9827 0.9393 0.9964 1 1 1 1 0.9980 hom 3787.35 119 11 7324475 . T C 3787.35 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.3999;MQ=59.42;MQ0=0;QD=31.83;VQSLOD=8.4920;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3787,292,0 11 7439264 7439264 C T exonic SYT9 synonymous SNV SYT9:NM_175733:exon5:c.C1242T:p.T414T 0.17 0.16 0.13 0.29 0.15 0.12 0.1484 0.1426 0.1452 0.2978 0.1219 0.1400 0.1542 0.1203 0.14 0.14 0.14 0.17 0.15 rs34058874 COSM147136 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1469 0.1455 0.1414 0.1369 0.2975 0.1217 0.1394 0.1459 0.1180 0.1374 0.1444 0.1480 0.1225 0.2815 0.1138 0.1230 0.1357 het 2855.22 187 11 7439264 . C T 2855.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.659;DP=187;Dels=0.00;FS=3.307;HRun=2;HaplotypeScore=10.0006;MQ=59.24;MQ0=0;MQRankSum=1.751;QD=15.27;ReadPosRankSum=-1.372;VQSLOD=3.3421;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,97:187:99:2885,0,2424 11 7507182 7507182 A G exonic OLFML1 nonsynonymous SNV OLFML1:NM_198474:exon1:c.A76G:p.T26A 0.016 0.0053 0.011 . 0.052 0.013 0.0502 0.0136 0.0106 0.0001 0.0872 0.0715 0.0474 0.0265 0.051 0.016 0.069 0.022 0.09 rs118163706 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.349 N 1.000 0.090 N -1.7 0.004 N -2.15 0.865 D 0.9 0.016 N 0.192 0.235 -0.963 0.386 T 0.020 0.086 T . . . 0.807 0.171 9.508 0.731 0.099 0.014 0.048 N c -0.943 -0.637 1.000 0.747 0.487 0.133 0 5.59 0.846 0.904 0.279 0.104 0.200 0.251 0.246 0.701 0.310 10.703 0.449 . . . 0.0471 0.0118 0.0118 0.0109 0.0001 0.0861 0.0713 0.0405 0.0266 0.0579 0.0164 0.0191 0.01 0 0.0915 0.0834 0.0611 het 1297.42 105 11 7507182 . A G 1297.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.362;DP=105;Dels=0.00;FS=1.579;HRun=0;HaplotypeScore=1.8658;MQ=58.89;MQ0=0;MQRankSum=1.765;QD=12.36;ReadPosRankSum=0.560;VQSLOD=6.0169;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,49:105:99:1327,0,1500 11 7656809 7656809 G A exonic PPFIBP2 synonymous SNV PPFIBP2:NM_001256569:exon10:c.G792A:p.P264P,PPFIBP2:NM_001256568:exon11:c.G885A:p.P295P,PPFIBP2:NM_003621:exon14:c.G1221A:p.P407P 0.05 0.0045 0.089 0.002 0.15 0.034 0.0965 0.0197 0.0613 0 0.1416 0.1337 0.1192 0.0508 0.096 0.025 0.13 0.033 0.11 rs11041490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0995 0.0210 0.0690 0.1224 0.0002 0.1456 0.1362 0.1157 0.0512 0.0995 0.0246 0.0788 0.1291 0 0.1520 0.1406 0.1245 het 2284.63 197 11 7656809 . G A 2284.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.595;DP=197;Dels=0.00;FS=2.527;HRun=0;HaplotypeScore=3.3143;MQ=58.86;MQ0=0;MQRankSum=-0.513;QD=11.60;ReadPosRankSum=1.564;VQSLOD=5.3749;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:107,90:197:99:2315,0,2652 11 7670440 7670440 A G exonic PPFIBP2 nonsynonymous SNV PPFIBP2:NM_001256569:exon16:c.A1543G:p.R515G,PPFIBP2:NM_001256568:exon17:c.A1636G:p.R546G,PPFIBP2:NM_003621:exon20:c.A1972G:p.R658G 1. 1. 1. 1. 1. 1. 0.9997 0.9966 1 1 1 1.0000 1 1 1. 0.99 1. 1. 1. rs4758209 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.988 0.252 P -3.27 0.000 N 1.3 0.356 T 7.32 0.000 N 0.028 0.499 -0.953 0.405 T 0.000 0.000 T . . . 2.000 0.301 16.21 0.450 0.035 0.176 0.197 N c -0.790 -0.404 1.000 0.747 0.707 0.730 0 5.3 0.746 8.162 0.895 0.138 0.222 1.000 0.715 0.990 0.544 12.304 0.540 Sterile alpha motif domain|Sterile alpha motif/pointed domain . . 0.9998 0.9970 1 1 1 1 1.0000 1 1 0.9991 0.9968 1 1 1 1 1 0.9990 hom 3160.57 109 11 7670440 . A G 3160.57 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=29.00;VQSLOD=8.8214;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3194,247,0 11 7673015 7673015 G A exonic PPFIBP2 synonymous SNV PPFIBP2:NM_001256569:exon19:c.G1947A:p.E649E,PPFIBP2:NM_001256568:exon20:c.G2040A:p.E680E,PPFIBP2:NM_003621:exon23:c.G2376A:p.E792E 0.66 0.75 0.61 0.6 0.64 0.66 0.6609 0.7303 0.5927 0.5785 0.6682 0.6652 0.6674 0.6871 0.69 0.73 0.67 0.59 0.7 rs5864 COSM4146340 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6551 0.7328 0.5895 0.6353 0.5693 0.6654 0.6676 0.6683 0.6879 0.6852 0.7287 0.6283 0.6225 0.5520 0.6651 0.6839 0.6779 het 2662.54 223 11 7673015 . G A 2662.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.439;DP=223;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.0748;MQ=58.80;MQ0=0;MQRankSum=1.111;QD=11.94;ReadPosRankSum=-1.428;VQSLOD=4.4839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,102:223:99:2693,0,3310 11 7686674 7686674 T C exonic CYB5R2 synonymous SNV CYB5R2:NM_001302826:exon9:c.A762G:p.L254L,CYB5R2:NM_016229:exon9:c.A762G:p.L254L 0.77 0.85 0.67 0.77 0.76 0.75 0.7725 0.8463 0.6523 0.7626 0.8191 0.7743 0.7930 0.7866 0.8 0.85 0.77 0.74 0.62 rs13854 COSM4146344 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7621 0.8513 0.6433 0.7453 0.7510 0.8192 0.7725 0.7657 0.7792 0.8088 0.8507 0.6874 0.7517 0.7599 0.8180 0.7953 0.8129 hom 1599.31 48 11 7686674 . T C 1599.31 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;QD=33.32;VQSLOD=9.7951;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1632,129,0 11 7687715 7687715 T C exonic CYB5R2 nonsynonymous SNV CYB5R2:NM_001302826:exon8:c.A625G:p.N209D,CYB5R2:NM_016229:exon8:c.A625G:p.N209D 0.79 0.85 0.68 0.82 0.76 0.77 0.7733 0.8428 0.6440 0.7900 0.8167 0.7732 0.7914 0.7939 0.8 0.85 0.77 0.74 0.72 rs12801394 . . . . . . . . . . . . . 0.077 0.341 T 0.0 0.026 B 0.001 0.040 B 0.967 0.077 N 1 0.090 P 0.565 0.153 N -2.13 0.864 D -0.84 0.229 N 0.022 0.005 -0.928 0.444 T 0.000 0.000 T . . . 0.576 0.149 7.991 0.740 0.102 0.420 0.265 N c -1.637 -1.586 1.000 0.409 0.672 0.522 0 -0.576 0.111 0.890 0.277 -2.642 0.002 0.005 0.169 0.055 0.167 8.130 0.300 Oxidoreductase FAD/NAD(P)-binding ENSG00000176716.3|ENSG00000166394.10|ENSG00000166394.10|ENSG00000166394.10|ENSG00000166394.10 Artery_Tibial|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.7677 0.8494 0.6457 0.7446 0.7826 0.8205 0.7752 0.7689 0.7933 0.8120 0.8502 0.6918 0.7517 0.7865 0.8199 0.7983 0.8184 hom 1864.50 69 11 7687715 . T C 1864.50 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.39;MQ0=0;QD=27.02;VQSLOD=7.7018;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:1898,153,0 11 7712561 7712561 T A exonic OVCH2 nonsynonymous SNV OVCH2:NM_198185:exon15:c.A1578T:p.Q526H 0.17 0.28 0.14 0.16 0.14 0.097 0.1504 0.2616 0.1328 0.1620 0.1739 0.1442 0.1674 0.1049 0.18 0.25 0.15 0.21 . rs4519083 COSM4417990;COSM4417989 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . 0.018 0.276 N 1 0.090 P . . . . . . . . . 0.042 0.047 -0.939 0.428 T 0.000 0.000 T . . . -0.188 0.077 1.165 0.809 0.130 0.151 0.185 N c -0.740 -0.821 0.146 0.174 0.066 0.011 0 -1.65 0.078 -0.348 0.077 -0.302 0.080 0.753 0.289 0.103 0.190 6.313 0.203 CUB domain ENSG00000166394.10 Skin_Sun_Exposed_Lower_leg 0.1506 0.2597 0.1358 0.2187 0.1588 0.1768 0.1396 0.1626 0.1047 0.1837 0.2531 0.1611 0.2351 0.1718 0.1823 0.1471 0.1531 het 452.78 35 11 7712561 . T A 452.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.573;DP=35;Dels=0.00;FS=6.130;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.348;QD=12.94;ReadPosRankSum=-0.613;VQSLOD=5.6208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:483,0,471 11 7716855 7716855 T A exonic OVCH2 nonsynonymous SNV OVCH2:NM_198185:exon12:c.A1228T:p.N410Y 0.96 0.85 0.97 1. 1. 1. 0.9874 0.8629 0.9921 1 1 0.9989 0.9877 0.9999 0.96 0.87 1. 0.89 . rs4528317 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.022 0.268 N 0.999 0.213 P -0.515 0.026 N . . . . . . 0.096 0.182 -0.925 0.449 T 0.000 0.000 T . . . 0.319 0.125 5.878 0.418 0.030 0.004 0.021 N c -1.071 -0.923 0.579 0.215 0.054 0.004 0 4.38 0.519 -0.014 0.125 0.242 0.267 0.017 0.192 0.981 0.494 4.932 0.132 CUB domain . . 0.9893 0.8609 0.9910 0.9962 1 1.0000 0.9990 0.9901 0.9996 0.9618 0.8664 0.9952 1 1 1 0.9993 0.9908 hom 1491.17 49 11 7716855 . T A 1491.17 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.89;MQ0=0;QD=30.43;VQSLOD=7.1554;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1524,123,0 11 7721870 7721870 G A exonic OVCH2 nonsynonymous SNV OVCH2:NM_198185:exon7:c.C874T:p.P292S 0.84 0.57 0.91 1. 0.95 0.91 0.9156 0.6205 0.9592 0.9999 0.9416 0.9411 0.9141 0.9028 0.85 0.65 0.95 0.75 . rs10839849 . . . . . . . . . . . . . . . . 0.013 0.154 B 0.018 0.173 B 0.000 0.454 D 0.998 0.223 P 1.105 0.287 L . . . . . . 0.139 0.222 -0.958 0.396 T 0.000 0.000 T . . . 1.040 0.194 10.89 0.838 0.144 0.711 0.346 D c -0.484 -0.281 0.488 0.208 0.075 0.013 0 3.71 0.416 1.755 0.378 0.953 0.551 1.000 0.715 0.979 0.486 5.347 0.152 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9218 0.6132 0.9554 0.8992 0.9996 0.9421 0.9450 0.9250 0.9028 0.8563 0.6275 0.9415 0.9106 0.9994 0.9447 0.9428 0.9211 hom 1668.46 57 11 7721870 . G A 1668.46 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=29.27;VQSLOD=8.9072;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1701,132,0 11 7723002 7723002 A G exonic OVCH2 synonymous SNV OVCH2:NM_198185:exon6:c.T580C:p.L194L 0.0054 . 0.0029 . 0.004 0.021 0.0092 0.0013 0.0040 0 0.0041 0.0106 0.0096 0.0183 0.0042 0.0013 0.0056 . . rs117143114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0074 0.0006 0.0039 0.0124 5.86e-05 0.0035 0.0086 0.0057 0.0161 0.0042 0.0010 0.0012 0.0099 0 0.0031 0.0067 0.0071 het 285.22 21 11 7723002 . A G 285.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.760;DP=21;Dels=0.00;FS=1.922;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.616;QD=13.58;ReadPosRankSum=0.109;VQSLOD=5.8161;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:8,13:21:99:315,0,256 11 7727886 7727886 C T exonic OVCH2 nonsynonymous SNV OVCH2:NM_198185:exon1:c.G56A:p.R19Q 0.4 0.2 0.51 0.42 0.37 0.61 0.4716 0.2997 0.6144 0.4736 0.5025 0.4380 0.4901 0.5845 0.33 0.24 0.37 0.32 . rs7927138 COSM4415412;COSM429902 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.675 0.103 N 1 0.090 P -2.24 0.001 N . . . . . . 0.033 0.144 -1.001 0.296 T 0.000 0.000 T . . . -0.808 0.040 0.041 0.684 0.084 0.001 0.008 N c -1.555 -1.471 0.000 0.065 0.061 0.009 0 0.026 0.134 0.171 0.164 -0.214 0.099 0.021 0.196 0.020 0.134 1.949 0.031 Peptidase S1\x2c PA clan . . 0.4163 0.2380 0.5335 0.3672 0.3959 0.4493 0.3670 0.4064 0.5542 0.3601 0.2502 0.5286 0.3278 0.4006 0.4558 0.3843 0.4223 het 156.60 12 11 7727886 . C T 156.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.239;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=13.05;ReadPosRankSum=0.536;VQSLOD=11.6263;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,8:12:91.16:187,0,91 11 7817538 7817538 T C exonic OR5P2 nonsynonymous SNV OR5P2:NM_153444:exon1:c.A952G:p.N318D 0.24 0.35 0.29 0.13 0.28 0.12 0.2633 0.3466 0.2846 0.1349 0.2788 0.2827 0.2323 0.1709 0.3 0.32 0.28 0.22 0.18 rs7949771 COSM4417566 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.527 0.071 T 0.072 0.225 B 0.01 0.139 B 0.968 0.078 N 1 0.090 P 0 0.065 N 8.86 0.000 T -0.02 0.073 N 0.011 0.002 -1.214 0.001 T 0.000 0.000 T . . . -1.309 0.022 0.004 0.405 0.028 0.014 0.046 N c -1.299 -1.303 0.000 0.012 0.487 0.133 0 -0.787 0.103 -0.910 0.041 -0.705 0.037 0.000 0.063 0.000 0.016 6.108 0.192 . ENSG00000166394.10|ENSG00000183303.2|ENSG00000271758.1|ENSG00000254951.3|ENSG00000254951.3 Adipose_Visceral_Omentum|Lung|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.2557 0.3451 0.2861 0.2303 0.1323 0.2788 0.2801 0.2504 0.1510 0.2841 0.3301 0.2867 0.25 0.1335 0.2854 0.2770 0.2706 het 2360.86 201 11 7817538 . T C 2360.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.965;DP=201;Dels=0.00;FS=4.037;HRun=0;HaplotypeScore=2.4969;MQ=59.25;MQ0=0;MQRankSum=0.762;QD=11.75;ReadPosRankSum=1.164;VQSLOD=5.7846;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:108,93:201:99:2391,0,2891 11 7817665 7817665 T C exonic OR5P2 synonymous SNV OR5P2:NM_153444:exon1:c.A825G:p.T275T 0.24 0.35 0.29 0.13 0.28 0.12 0.2575 0.3447 0.2848 0.1345 0.2788 0.2800 0.2279 0.1518 0.3 0.33 0.28 0.23 0.2 rs72484720 COSM4416754 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2559 0.3453 0.2864 0.2312 0.1320 0.2801 0.2803 0.2513 0.1517 0.2841 0.3295 0.2921 0.2483 0.1313 0.2855 0.2771 0.2732 het 1981.19 163 11 7817665 . T C 1981.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.739;DP=163;Dels=0.00;FS=1.973;HRun=1;HaplotypeScore=1.5810;MQ=58.83;MQ0=0;MQRankSum=-0.699;QD=12.15;ReadPosRankSum=2.330;VQSLOD=4.7118;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,78:163:99:2011,0,2388 11 7817852 7817852 C G exonic OR5P2 nonsynonymous SNV OR5P2:NM_153444:exon1:c.G638C:p.C213S 0.24 0.35 0.29 0.13 0.28 0.12 0.2552 0.3404 0.2808 0.1326 0.2769 0.2777 0.2284 0.1516 0.3 0.33 0.28 0.23 0.2 rs76615008 COSM4419556 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.205 P -3.94 0.000 N 1.33 0.350 T 4.77 0.000 N 0.079 0.071 -0.903 0.477 T 0.000 0.000 T . . . 0.263 0.119 5.332 0.675 0.081 0.176 0.197 N c -1.048 -0.647 0.012 0.123 0.500 0.196 0 5.5 0.813 6.645 0.740 0.136 0.221 1.000 0.715 0.219 0.221 14.363 0.662 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000166394.10|ENSG00000183303.2|ENSG00000271758.1|ENSG00000254951.3|ENSG00000254951.3 Adipose_Visceral_Omentum|Lung|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.2545 0.3418 0.2850 0.2313 0.1310 0.2793 0.2786 0.2506 0.1516 0.2829 0.3277 0.2892 0.2450 0.1305 0.2849 0.2760 0.2691 het 1743 174 11 7817852 . C G 1743 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.002;DP=174;Dels=0.00;FS=2.755;HRun=1;HaplotypeScore=2.8929;MQ=58.67;MQ0=0;MQRankSum=0.758;QD=10.02;ReadPosRankSum=0.430;VQSLOD=5.3373;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,67:174:99:1773,0,3149 11 7817856 7817856 C T exonic OR5P2 nonsynonymous SNV OR5P2:NM_153444:exon1:c.G634A:p.V212I 0.24 0.35 0.29 0.13 0.28 0.12 0.2552 0.3404 0.2810 0.1324 0.2772 0.2777 0.2284 0.1516 0.3 0.33 0.28 0.22 0.19 rs78460198 COSM179925 1(haematopoietic_and_lymphoid_tissue);2(kidney);4(prostate);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.008 0.135 B 0.021 0.181 B 0.602 0.109 N 1 0.090 P -0.48 0.027 N 1.21 0.372 T 0.24 0.045 N 0.012 0.001 -0.974 0.363 T 0.000 0.000 T . . . -2.434 0.004 0.001 0.722 0.096 0.008 0.033 N c -2.228 -2.297 1.000 0.432 0.500 0.196 0 -11.0 0.001 -7.729 0.000 -1.542 0.010 0.000 0.063 0.039 0.156 20.776 0.997 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000166394.10|ENSG00000183303.2|ENSG00000271758.1|ENSG00000254951.3|ENSG00000254951.3 Adipose_Visceral_Omentum|Lung|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.2545 0.3419 0.2854 0.2314 0.1310 0.2794 0.2784 0.2509 0.1516 0.2827 0.3278 0.2885 0.2450 0.1292 0.2849 0.2759 0.2691 het 1682.74 175 11 7817856 . C T 1682.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.830;DP=175;Dels=0.00;FS=1.985;HRun=0;HaplotypeScore=3.8920;MQ=58.68;MQ0=0;MQRankSum=-0.171;QD=9.62;ReadPosRankSum=0.387;VQSLOD=4.9949;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,68:175:99:1713,0,2804 11 7817959 7817959 G A exonic OR5P2 synonymous SNV OR5P2:NM_153444:exon1:c.C531T:p.F177F 0.24 0.35 0.29 0.13 0.28 0.12 0.2570 0.3432 0.2846 0.1338 0.2786 0.2795 0.2282 0.1516 0.3 0.32 0.28 0.23 0.2 rs73406603 COSM1559362 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2556 0.3433 0.2863 0.2313 0.1316 0.2800 0.2801 0.2524 0.1518 0.2854 0.3306 0.2928 0.25 0.1351 0.2862 0.2784 0.2733 het 1498.41 121 11 7817959 . G A 1498.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.589;DP=121;Dels=0.00;FS=10.218;HRun=3;HaplotypeScore=3.7069;MQ=59.64;MQ0=0;MQRankSum=-0.133;QD=12.38;ReadPosRankSum=1.857;VQSLOD=3.4508;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,53:121:99:1528,0,1775 11 7818056 7818056 T C exonic OR5P2 nonsynonymous SNV OR5P2:NM_153444:exon1:c.A434G:p.Y145C 0.24 0.35 0.29 0.13 0.28 0.12 0.2572 0.3450 0.2844 0.1343 0.2782 0.2798 0.2284 0.1515 0.3 0.33 0.28 0.23 0.2 rs73406604 COSM1559363 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . 0.013 0.538 D 0.023 0.176 B 0.169 0.336 B 0.000 0.629 D 1 0.090 P 1.725 0.447 L 1.15 0.382 T -8.82 0.978 D 0.247 0.318 -0.991 0.324 T 0.000 0.000 T . . . 0.105 0.104 3.660 0.955 0.265 0.047 0.103 N c -0.804 -0.844 0.000 0.012 0.487 0.133 0 3.18 0.355 0.199 0.169 0.137 0.221 0.011 0.184 0.001 0.043 4.477 0.111 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000166394.10|ENSG00000183303.2|ENSG00000271758.1|ENSG00000254951.3|ENSG00000254951.3 Adipose_Visceral_Omentum|Lung|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.2556 0.3443 0.2860 0.2315 0.1319 0.2799 0.2800 0.2514 0.1515 0.2842 0.3296 0.2914 0.2450 0.1336 0.2857 0.2771 0.2706 het 1541.25 98 11 7818056 . T C 1541.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.279;DP=98;Dels=0.00;FS=6.621;HRun=0;HaplotypeScore=4.5859;MQ=59.53;MQ0=0;MQRankSum=0.765;QD=15.73;ReadPosRankSum=-0.836;VQSLOD=4.3204;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,52:98:99:1571,0,1266 11 7818151 7818151 G A exonic OR5P2 synonymous SNV OR5P2:NM_153444:exon1:c.C339T:p.A113A 0.24 0.35 0.29 0.13 0.28 0.12 0.2572 0.3445 0.2840 0.1342 0.2785 0.2798 0.2279 0.1514 0.3 0.33 0.28 0.23 0.2 rs73406606 COSM1559364 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2556 0.3446 0.2860 0.2309 0.1319 0.2794 0.2800 0.2511 0.1516 0.2846 0.3301 0.2938 0.2399 0.1338 0.2854 0.2779 0.2696 het 3090.23 250 11 7818151 . G A 3090.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.115;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4333;MQ=59.30;MQ0=0;MQRankSum=-0.845;QD=12.36;ReadPosRankSum=-1.293;VQSLOD=3.9757;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3120,0,3731 11 7818190 7818190 C T exonic OR5P2 synonymous SNV OR5P2:NM_153444:exon1:c.G300A:p.A100A 0.24 0.35 0.29 0.13 0.28 0.12 0.2574 0.3446 0.2842 0.1346 0.2788 0.2800 0.2284 0.1516 0.3 0.33 0.28 0.22 0.2 rs73406607 COSM1559365 1(haematopoietic_and_lymphoid_tissue);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2557 0.3447 0.2862 0.2310 0.1320 0.2795 0.2803 0.2508 0.1516 0.2854 0.3317 0.2914 0.2432 0.1361 0.2854 0.2784 0.2680 het 3000.64 245 11 7818190 . C T 3000.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.151;DP=245;DS;Dels=0.00;FS=3.632;HRun=0;HaplotypeScore=5.4100;MQ=59.36;MQ0=0;MQRankSum=-0.408;QD=12.25;ReadPosRankSum=0.368;VQSLOD=4.7611;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,113:245:99:3031,0,3382 11 7818313 7818313 C T exonic OR5P2 synonymous SNV OR5P2:NM_153444:exon1:c.G177A:p.L59L 0.24 0.35 0.29 0.13 0.28 0.12 0.2571 0.3448 0.2838 0.1343 0.2782 0.2795 0.2279 0.1516 0.3 0.32 0.28 0.22 0.17 rs73406609 COSM4418126 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2552 0.3439 0.2857 0.2307 0.1320 0.2793 0.2796 0.2507 0.1513 0.2843 0.3276 0.2931 0.2483 0.1361 0.2850 0.2781 0.2707 het 1376.11 107 11 7818313 . C T 1376.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.764;DP=107;Dels=0.00;FS=14.122;HRun=1;HaplotypeScore=1.9973;MQ=58.90;MQ0=0;MQRankSum=0.964;QD=12.86;ReadPosRankSum=-0.490;VQSLOD=3.9368;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,51:107:99:1406,0,1766 11 7818383 7818383 - ATATGGTTACCAGGTAGATGC exonic OR5P2 nonframeshift insertion OR5P2:NM_153444:exon1:c.106_107insGCATCTACCTGGTAACCATAT:p.L35_S36insCIYLVTI . . . . . . 0.2464 0.3254 0.2708 0.1276 0.2678 0.2694 0.2135 0.1429 . . . . . rs138967151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2817 0.3245 0.2873 0.2483 0.1347 0.2853 0.2754 0.2676 het 7287 73 11 7818383 . G GATATGGTTACCAGGTAGATGC 7287 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.181;DP=73;FS=0.000;HRun=0;HaplotypeScore=998.0492;MQ=49.98;MQ0=0;MQRankSum=-5.820;QD=99.82;ReadPosRankSum=-0.079;set=variant2 GT:AD:DP:GQ:PL 0/1:59,9:73:99:7287,0,6010 11 7847208 7847208 T C exonic OR5P3 synonymous SNV OR5P3:NM_153445:exon1:c.A312G:p.V104V 0.44 0.071 0.59 0.48 0.63 0.62 0.5800 0.1535 0.6442 0.4861 0.6647 0.6300 0.6200 0.6124 0.47 0.17 0.63 0.4 0.67 rs1482791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5927 0.1480 0.6377 0.6168 0.4934 0.6610 0.6334 0.6196 0.6094 0.4983 0.1685 0.6014 0.6060 0.4975 0.6572 0.6324 0.6 het 4040.62 250 11 7847208 . T C 4040.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.362;DP=250;DS;Dels=0.00;FS=0.463;HRun=1;HaplotypeScore=7.5601;MQ=58.93;MQ0=0;MQRankSum=-0.513;QD=16.16;ReadPosRankSum=-1.178;VQSLOD=3.8687;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,122:250:99:3432,0,3248 11 7847466 7847466 A G exonic OR5P3 synonymous SNV OR5P3:NM_153445:exon1:c.T54C:p.S18S 0.81 0.73 0.94 0.61 0.96 0.87 0.9118 0.7773 0.9596 0.6232 0.9886 0.9579 0.9237 0.8890 0.9 0.79 0.96 0.86 0.86 rs1482792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9157 0.7730 0.9570 0.9370 0.6292 0.9876 0.9584 0.9288 0.8873 0.8964 0.7789 0.9532 0.9172 0.6275 0.9825 0.9654 0.9399 hom 3524.03 120 11 7847466 . A G 3524.03 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;QD=29.37;VQSLOD=8.0884;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3523,268,0 11 7847472 7847472 C T exonic OR5P3 synonymous SNV OR5P3:NM_153445:exon1:c.G48A:p.G16G 0.44 0.073 0.59 0.48 0.63 0.62 0.5884 0.1540 0.6449 0.4819 0.6647 0.6328 0.6323 0.6262 0.47 0.17 0.62 0.4 0.61 rs1482793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5938 0.1477 0.6382 0.6160 0.4923 0.6619 0.6337 0.6194 0.6092 0.5016 0.1734 0.6019 0.6060 0.4938 0.6569 0.6319 0.6012 het 1324.16 116 11 7847472 . C T 1324.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.772;DP=116;Dels=0.00;FS=3.624;HRun=0;HaplotypeScore=0.9973;MQ=59.15;MQ0=0;MQRankSum=-0.185;QD=11.42;ReadPosRankSum=-1.698;VQSLOD=5.2230;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,58:116:99:1354,0,1538 11 7949350 7949350 A G exonic OR10A6 nonsynonymous SNV OR10A6:NM_001004461:exon1:c.T860C:p.L287P 0.79 0.75 0.85 0.76 0.8 0.81 0.7920 0.7457 0.8494 0.7989 0.8287 0.7835 0.7698 0.7981 0.77 0.74 0.78 0.8 0.8 rs4758258 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.431 N 0.001 0.454 P -3.205 0.000 N 2.5 0.144 T 9.05 0.000 N 0.099 0.101 -0.982 0.345 T 0.000 0.000 T . . . 0.230 0.116 4.997 0.477 0.039 0.060 0.118 N c -0.960 -0.671 1.000 0.480 0.487 0.133 0 4.43 0.528 7.701 0.834 0.076 0.183 1.000 0.715 0.177 0.212 10.677 0.448 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7961 0.7470 0.8497 0.7345 0.7965 0.8300 0.7843 0.8044 0.7982 0.7862 0.7563 0.8329 0.7318 0.7936 0.8308 0.7897 0.8047 het 1493.12 133 11 7949350 . A G 1493.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.594;DP=133;Dels=0.00;FS=0.654;HRun=1;HaplotypeScore=0.9979;MQ=58.99;MQ0=0;MQRankSum=-0.840;QD=11.23;ReadPosRankSum=0.034;VQSLOD=6.3764;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,59:133:99:1523,0,1948 11 7950024 7950024 A G exonic OR10A6 synonymous SNV OR10A6:NM_001004461:exon1:c.T186C:p.F62F 0.33 0.26 0.46 0.27 0.37 0.37 0.3647 0.2822 0.4757 0.2812 0.3985 0.3731 0.3289 0.3370 0.35 0.29 0.38 0.36 0.35 rs12272735 COSM5618687 2(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3683 0.2824 0.4659 0.2171 0.2790 0.3959 0.3817 0.3717 0.3343 0.3492 0.2854 0.4427 0.2267 0.2910 0.4041 0.3763 0.3589 het 1852.99 149 11 7950024 . A G 1852.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.946;DP=149;Dels=0.00;FS=6.039;HRun=1;HaplotypeScore=7.5334;MQ=59.40;MQ0=0;MQRankSum=-1.525;QD=12.44;ReadPosRankSum=-1.502;VQSLOD=3.2570;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,73:149:99:1883,0,1824 11 8115699 8115699 T C exonic TUB synonymous SNV TUB:NM_177972:exon4:c.T360C:p.G120G,TUB:NM_003320:exon5:c.T525C:p.G175G 0.4 0.38 0.45 0.53 0.26 0.41 0.3582 0.3500 0.5720 0.5391 0.2685 0.2927 0.3445 0.4193 0.32 0.35 0.3 0.29 0.3 rs4758289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3608 0.3503 0.5492 0.2945 0.5298 0.2698 0.2903 0.3212 0.4150 0.3213 0.3465 0.4952 0.3267 0.5483 0.2662 0.2862 0.3035 hom 1755.81 61 11 8115699 . T C 1755.81 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=28.78;VQSLOD=8.1411;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1789,156,0 11 8251921 8251921 G C exonic LMO1 synonymous SNV LMO1:NM_001270428:exon2:c.C153G:p.A51A,LMO1:NM_002315:exon2:c.C156G:p.A52A 0.33 0.031 0.45 0.29 0.5 0.54 0.4466 0.0981 0.5016 0.3012 0.4705 0.4789 0.5132 0.5593 0.36 0.11 0.49 0.33 . rs3750952 COSM5453141;COSM5453142 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4564 0.0924 0.5038 0.4410 0.3048 0.4708 0.4838 0.4810 0.5614 0.3704 0.1079 0.5096 0.4768 0.3315 0.4702 0.4866 0.4877 het 2906.48 195 11 8251921 . G C 2906.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.190;DP=195;Dels=0.00;FS=11.506;HRun=0;HaplotypeScore=2.7487;MQ=59.19;MQ0=0;MQRankSum=-0.754;QD=14.91;ReadPosRankSum=-0.490;VQSLOD=3.5804;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,104:195:99:2936,0,2421 11 8414089 8414089 - A exonic STK33 frameshift insertion STK33:NM_001289059:exon11:c.951_952insT:p.G318Wfs*28,STK33:NM_001289061:exon13:c.1512_1513insT:p.G505Wfs*28,STK33:NM_001289058:exon14:c.1389_1390insT:p.G464Wfs*28,STK33:NM_030906:exon14:c.1512_1513insT:p.G505Wfs*28 0.0096 0.0015 0.017 . 0.021 0.013 0.0144 0.0037 0.0159 0 0.0027 0.0189 0.0242 0.0140 0.0096 0.0047 0.012 . . rs200962114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0009 0.0021 0.0184 0 0.0008 0.0043 0.0060 0.0050 0.0108 0.0032 0.0274 0.04 0 0.0043 0.0160 0.0153 het 462.51 158 11 8414089 . C CA 462.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.332;DP=158;FS=3.851;HRun=0;HaplotypeScore=618.4830;MQ=53.71;MQ0=0;MQRankSum=-6.826;QD=2.87;ReadPosRankSum=1.051;set=variant2 GT:AD:DP:GQ:PL 0/1:141,20:158:99:502,0,4235 11 8414090 8414090 - AACCA exonic STK33 frameshift insertion STK33:NM_001289059:exon11:c.950_951insTGGTT:p.A319Sfs*33,STK33:NM_001289061:exon13:c.1511_1512insTGGTT:p.A506Sfs*33,STK33:NM_001289058:exon14:c.1388_1389insTGGTT:p.A465Sfs*33,STK33:NM_030906:exon14:c.1511_1512insTGGTT:p.A506Sfs*33 0.0096 0.0015 0.017 . 0.021 0.013 0.0145 0.0037 0.0159 0 0.0029 0.0190 0.0244 0.0140 0.013 0.0056 0.017 . 0.016 rs201927394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0044 0.0009 0.0026 0.0213 0 0.0010 0.0049 0.0064 0.0057 0.0107 0.0032 0.0276 0.0405 0 0.0043 0.0160 0.0153 het 2554.11 161 11 8414090 . G GAACCA 2554.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.320;DP=161;FS=4.617;HRun=0;HaplotypeScore=872.7179;MQ=53.84;MQ0=0;MQRankSum=-7.299;QD=15.57;ReadPosRankSum=-0.103;set=variant2 GT:AD:DP:GQ:PL 0/1:144,20:161:99:2593,0,7022 11 8486310 8486310 C A exonic STK33 synonymous SNV STK33:NM_001289061:exon4:c.G399T:p.A133A,STK33:NM_001289058:exon5:c.G276T:p.A92A,STK33:NM_030906:exon5:c.G399T:p.A133A 0.45 0.34 0.37 0.49 0.42 0.62 0.4309 0.3254 0.3925 0.5317 0.3340 0.4183 0.4593 0.5597 0.38 0.33 0.41 0.35 0.45 rs1446464 COSM3752789;COSM147138 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(oesophagus);1(prostate);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4289 0.3258 0.3977 0.5301 0.5295 0.3466 0.4099 0.4319 0.5538 0.3879 0.3396 0.3825 0.5133 0.5075 0.3417 0.4097 0.4194 hom 3403.82 113 11 8486310 . C A 3403.82 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=30.12;VQSLOD=9.2833;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3403,262,0 11 8751889 8751889 C G exonic ST5 nonsynonymous SNV ST5:NM_213618:exon3:c.G948C:p.K316N,ST5:NM_005418:exon6:c.G948C:p.K316N 0.28 0.016 0.45 0.35 0.44 0.29 0.4004 0.0821 0.5162 0.3693 0.5553 0.4380 0.3843 0.2949 0.32 0.091 0.44 0.28 0.35 rs3794153 COSM3752796 1(thyroid);5(large_intestine) . . . . . . . . . . . 0.001 0.784 D 0.998 0.715 D 0.852 0.590 P 0.000 0.843 D 0.000 0.810 P 1.895 0.505 L 2.92 0.099 T -2.28 0.508 N 0.087 0.204 -0.938 0.429 T 0.000 0.000 T . . . 4.058 0.545 23.7 0.998 0.892 0.938 0.589 D c 0.690 0.697 1.0 0.983 0.534 0.214 0 6.17 0.997 2.955 0.486 0.935 0.490 1.000 0.715 1.000 0.888 20.879 0.999 . ENSG00000166452.7|ENSG00000166436.11|ENSG00000166436.11|ENSG00000166436.11|ENSG00000254860.1|ENSG00000166452.7|ENSG00000166436.11|ENSG00000254860.1|ENSG00000254860.1|ENSG00000166436.11|ENSG00000166436.11|ENSG00000166452.7|ENSG00000166436.11|ENSG00000254860.1|ENSG00000166436.11|ENSG00000166436.11|ENSG00000254860.1|ENSG00000166436.11|ENSG00000254860.1|ENSG00000254860.1|ENSG00000166436.11|ENSG00000254860.1|ENSG00000166436.11|ENSG00000254860.1|ENSG00000166436.11|ENSG00000254860.1|ENSG00000166452.7|ENSG00000166436.11|ENSG00000254860.1|ENSG00000254860.1|ENSG00000166452.7|ENSG00000166436.11|ENSG00000254860.1|ENSG00000166436.11|ENSG00000166452.7|ENSG00000166436.11|ENSG00000254860.1|ENSG00000166436.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4044 0.0752 0.5018 0.3222 0.3657 0.5505 0.4419 0.4161 0.2903 0.3604 0.0891 0.4652 0.3377 0.3635 0.5487 0.4659 0.4090 het 1365.88 99 11 8751889 . C G 1365.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.572;DP=99;Dels=0.00;FS=0.759;HRun=0;HaplotypeScore=6.5546;MQ=58.82;MQ0=0;MQRankSum=-0.514;QD=13.80;ReadPosRankSum=-0.801;VQSLOD=4.5045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,50:99:99:1396,0,1288 11 8933064 8933064 G A exonic AKIP1 nonsynonymous SNV AKIP1:NM_001206646:exon2:c.G68A:p.R23K,AKIP1:NM_001206647:exon2:c.G68A:p.R23K,AKIP1:NM_001206648:exon2:c.G68A:p.R23K,AKIP1:NM_020642:exon2:c.G68A:p.R23K 0.12 0.012 0.21 0.003 0.27 0.17 0.2509 0.0559 0.2539 0.0012 0.3059 0.3065 0.2730 0.2314 0.19 0.049 0.26 0.043 0.24 rs1133833 COSM3752800 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.052 0.410 T 0.297 0.670 B 0.067 0.759 B 0.084 0.207 N 0.992 0.241 P 2.22 0.631 M 1.45 0.379 T -1.94 0.585 N 0.262 0.319 -1.080 0.074 T 0.000 0.000 T . . . 0.943 0.184 10.33 0.984 0.401 0.558 0.297 D c -0.285 -0.286 1.000 0.747 0.442 0.072 0 2.09 0.260 1.845 0.387 0.143 0.228 0.986 0.359 0.470 0.266 4.590 0.116 . ENSG00000175356.8|ENSG00000175352.6|ENSG00000175348.6|ENSG00000166452.7|ENSG00000175348.6|ENSG00000175348.6|ENSG00000175356.8|ENSG00000166452.7|ENSG00000166452.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Testis|Thyroid 0.2107 0.0375 0.1989 0.3757 0.0010 0.2157 0.2576 0.2302 0.1976 0.1765 0.0436 0.2184 0.3278 0.0006 0.2181 0.2538 0.2367 het 242.07 25 11 8933064 . G A 242.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.849;DP=25;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.684;QD=9.68;ReadPosRankSum=-0.575;VQSLOD=6.8727;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,11:25:99:272,0,371 11 8942942 8942942 C T exonic C11orf16 nonsynonymous SNV C11orf16:NM_020643:exon6:c.G1325A:p.R442Q 0.27 0.11 0.25 0.22 0.35 0.46 0.3263 0.1242 0.2160 0.2275 0.3051 0.3633 0.3458 0.4409 0.28 0.13 0.35 0.16 0.34 rs2653601 COSM147139 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.592 0.110 N 1 0.090 P -0.97 0.012 N 1.56 0.296 T 0.41 0.034 N 0.006 0.000 -0.951 0.408 T 0.000 0.000 T . . . -0.507 0.055 0.212 0.807 0.129 0.001 0.009 N c -1.751 -1.709 0.007 0.114 0.372 0.050 0 -0.874 0.100 -0.102 0.108 -0.666 0.040 0.000 0.063 0.000 0.016 4.093 0.094 . ENSG00000175356.8|ENSG00000166452.7|ENSG00000175348.6|ENSG00000175352.6|ENSG00000166452.7|ENSG00000166452.7 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Stomach|Testis|Thyroid 0.3249 0.1190 0.2313 0.4605 0.2285 0.2987 0.3570 0.3246 0.4429 0.2753 0.1265 0.2649 0.4167 0.2218 0.2960 0.3557 0.3497 het 2465.31 166 11 8942942 . C T 2465.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.140;DP=166;Dels=0.00;FS=1.234;HRun=0;HaplotypeScore=3.6745;MQ=58.98;MQ0=0;MQRankSum=0.313;QD=14.85;ReadPosRankSum=0.586;VQSLOD=6.2147;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,87:166:99:2495,0,2033 11 8942999 8942999 G A exonic C11orf16 nonsynonymous SNV C11orf16:NM_020643:exon6:c.C1268T:p.A423V 0.92 0.72 0.97 1. 1. 1. 0.9769 0.7576 0.9883 0.9998 1 0.9981 0.9868 0.9995 0.92 0.76 1. 0.84 1. rs2568023 . . . . . . . . . . . . . 0.937 0.022 T 0.0 0.026 B 0.0 0.013 B 0.019 0.015 N 1 0.090 P 0.77 0.194 N 1.39 0.338 T 0.1 0.058 N 0.009 0.001 -0.933 0.437 T 0.000 0.000 T . . . -0.994 0.032 0.016 0.489 0.041 0.002 0.014 N c -1.657 -1.711 0.131 0.171 0.0 0.000 3 -4.19 0.036 -1.554 0.023 0.117 0.209 0.000 0.063 0.001 0.043 13.190 0.590 . . . 0.9812 0.7499 0.9867 0.9914 0.9999 1 0.9986 0.9865 0.9992 0.9296 0.7552 0.9845 0.9934 1 1 0.9989 0.9847 hom 7095.53 238 11 8942999 . G A 7095.53 Mask AC=2;AF=1.00;AN=2;DP=238;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1172;MQ=59.56;MQ0=0;QD=29.81;VQSLOD=7.2546;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,238:238:99:7094,578,0 11 8947021 8947021 A G exonic C11orf16 nonsynonymous SNV C11orf16:NM_020643:exon5:c.T1193C:p.L398P 0.89 0.6 0.96 1. 1. 1. 0.9666 0.6422 0.9827 0.9998 1 0.9981 0.9824 0.9995 0.88 0.64 1. 0.77 1. rs2653588 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.016 0.282 N 1 0.090 P -1.585 0.004 N 1.55 0.299 T 4.71 0.000 N 0.037 0.017 -0.986 0.335 T 0.000 0.000 T . . . -0.666 0.047 0.086 0.042 0.000 0.002 0.012 N c -1.330 -1.160 0.998 0.363 0.554 0.283 0 2.59 0.300 1.628 0.364 0.138 0.222 0.651 0.279 0.157 0.207 3.444 0.070 . . . 0.9729 0.6321 0.9810 0.9914 0.9999 1 0.9986 0.9817 0.9990 0.8990 0.6485 0.9785 0.9934 1 1 0.9987 0.9755 hom 4398.84 137 11 8947021 . A G 4398.84 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.83;MQ0=0;QD=32.11;VQSLOD=9.6360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:137:99:4398,340,0 11 8947179 8947179 G A exonic C11orf16 synonymous SNV C11orf16:NM_020643:exon5:c.C1035T:p.D345D 0.27 0.11 0.25 0.22 0.35 0.46 0.3265 0.1243 0.2164 0.2257 0.3052 0.3634 0.3469 0.4417 0.28 0.13 0.35 0.18 0.33 rs2568077 COSM147140 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3251 0.1189 0.2316 0.4611 0.2271 0.2989 0.3572 0.3253 0.4435 0.2752 0.1265 0.2656 0.4172 0.2218 0.2956 0.3557 0.35 het 1772.52 145 11 8947179 . G A 1772.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.596;DP=145;Dels=0.00;FS=0.620;HRun=0;HaplotypeScore=0.7887;MQ=59.24;MQ0=0;MQRankSum=1.120;QD=12.22;ReadPosRankSum=1.489;VQSLOD=6.0239;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,67:145:99:1803,0,1887 11 8947283 8947283 G C exonic C11orf16 nonsynonymous SNV C11orf16:NM_020643:exon5:c.C931G:p.P311A 0.53 0.29 0.68 0.71 0.6 0.49 0.5895 0.3479 0.7481 0.6815 0.6863 0.5994 0.6134 0.5027 0.52 0.35 0.61 0.51 0.59 rs3751066 COSM4998027 1(pancreas) . . . . . . . . . . . 0.432 0.146 T 0.525 0.415 P 0.116 0.417 B 0.082 0.208 N 1 0.090 P 1.545 0.392 L 1.39 0.348 T -4.17 0.754 D 0.074 0.064 -0.871 0.505 T 0.000 0.000 T . . . 1.369 0.228 12.63 0.971 0.317 0.176 0.197 N c -0.702 -0.796 0.973 0.293 0.428 0.059 0 0.023 0.134 0.110 0.152 0.143 0.228 0.000 0.063 0.078 0.180 2.490 0.043 . ENSG00000175356.8|ENSG00000166436.11|ENSG00000166452.7|ENSG00000166436.11|ENSG00000175348.6|ENSG00000166436.11|ENSG00000166436.11|ENSG00000175352.6|ENSG00000166452.7|ENSG00000166452.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.6019 0.3414 0.7288 0.4974 0.6787 0.6925 0.6052 0.6232 0.5018 0.5532 0.3512 0.6942 0.55 0.6830 0.6955 0.6133 0.5886 het 1063.72 122 11 8947283 . G C 1063.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.029;DP=122;Dels=0.00;FS=2.473;HRun=1;HaplotypeScore=6.1122;MQ=59.04;MQ0=0;MQRankSum=-1.627;QD=8.72;ReadPosRankSum=-0.089;VQSLOD=3.4079;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,41:122:99:1094,0,2299 11 8947586 8947586 C G exonic C11orf16 nonsynonymous SNV C11orf16:NM_020643:exon5:c.G628C:p.V210L 0.25 0.23 0.2 0.38 0.19 0.23 0.2127 0.2305 0.2308 0.3356 0.1775 0.1840 0.2400 0.2527 0.19 0.22 0.18 0.2 0.2 rs11042127 COSM3752802 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.064 0.365 T 0.202 0.281 B 0.039 0.261 B 0.155 0.178 N 1 0.090 P 2.48 0.723 M 1.77 0.258 T -1.67 0.414 N 0.106 0.112 -0.960 0.392 T 0.000 0.000 T . . . 1.199 0.210 11.74 0.974 0.332 0.741 0.359 D c -0.269 -0.241 1.000 0.407 0.428 0.059 0 5.14 0.699 3.843 0.553 0.935 0.490 0.667 0.281 0.002 0.062 15.681 0.770 Domain of unknown function DUF4537 ENSG00000175348.6|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1|ENSG00000254860.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.2127 0.2248 0.2305 0.2053 0.3400 0.1830 0.1813 0.2305 0.2504 0.1989 0.2267 0.2428 0.2185 0.3476 0.1835 0.1678 0.1922 het 1786.51 144 11 8947586 . C G 1786.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.771;DP=144;Dels=0.00;FS=3.071;HRun=0;HaplotypeScore=5.5279;MQ=58.86;MQ0=0;MQRankSum=-0.355;QD=12.41;ReadPosRankSum=1.747;VQSLOD=3.9772;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,69:144:99:1817,0,1786 11 8948680 8948680 A T exonic C11orf16 synonymous SNV C11orf16:NM_020643:exon4:c.T366A:p.P122P 0.53 0.28 0.68 0.71 0.6 0.49 0.5884 0.3370 0.7469 0.6806 0.6874 0.5990 0.6137 0.5033 0.51 0.33 0.61 0.51 0.6 rs3751065 COSM4146410 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6005 0.3289 0.7279 0.4973 0.6780 0.6923 0.6045 0.6219 0.5017 0.5503 0.3405 0.6926 0.5430 0.6825 0.6959 0.6140 0.5879 het 809.62 70 11 8948680 . A T 809.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.306;DP=70;Dels=0.00;FS=0.970;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.882;QD=11.57;ReadPosRankSum=1.294;VQSLOD=5.3448;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:840,0,1007 11 8959370 8959370 G A exonic ASCL3 synonymous SNV ASCL3:NM_020646:exon2:c.C339T:p.Y113Y 0.27 0.11 0.25 0.22 0.35 0.46 0.3247 0.1236 0.2153 0.2263 0.3031 0.3615 0.3480 0.4378 0.28 0.13 0.35 0.18 0.33 rs2742505 COSM147141 1(breast);1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3234 0.1188 0.2308 0.4552 0.2275 0.2975 0.3554 0.3242 0.4402 0.2732 0.1265 0.2644 0.4172 0.2222 0.2942 0.3520 0.3483 het 1613.62 123 11 8959370 . G A 1613.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.449;DP=123;Dels=0.00;FS=0.662;HRun=0;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;MQRankSum=-0.146;QD=13.12;ReadPosRankSum=-0.110;VQSLOD=6.2784;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,61:123:99:1644,0,1536 11 8959511 8959511 T G exonic ASCL3 synonymous SNV ASCL3:NM_020646:exon2:c.A198C:p.G66G 0.66 0.32 0.72 0.93 0.68 0.78 0.7058 0.3797 0.7780 0.9054 0.7729 0.7011 0.7269 0.7465 0.6 0.38 0.71 0.63 0.53 rs4910179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7130 0.3718 0.7605 0.5893 0.9049 0.7746 0.7045 0.7163 0.7481 0.6415 0.3898 0.7416 0.6358 0.9086 0.7749 0.7184 0.6990 het 1649.79 101 11 8959511 . T G 1649.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.577;DP=101;Dels=0.00;FS=5.280;HRun=0;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;MQRankSum=0.502;QD=16.33;ReadPosRankSum=-0.379;VQSLOD=5.4734;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,56:101:99:1680,0,1205 11 8959545 8959545 C A exonic ASCL3 nonsynonymous SNV ASCL3:NM_020646:exon2:c.G164T:p.R55L 0.55 0.3 0.69 0.71 0.64 0.51 0.6165 0.3570 0.7608 0.6812 0.6974 0.6361 0.6244 0.5330 0.55 0.36 0.64 0.53 0.43 rs4909951 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.471 0.123 N 1 0.090 P -2.38 0.001 N -4.21 0.970 D 0.95 0.015 N 0.03 0.037 -0.940 0.427 T 0.000 0.000 T . . . 1.518 0.244 13.41 0.721 0.096 0.051 0.107 N c -0.904 -0.657 0.996 0.342 0.497 0.185 0 4.57 0.557 2.981 0.488 0.238 0.266 0.971 0.341 0.928 0.402 11.732 0.508 . ENSG00000175356.8|ENSG00000166452.7|ENSG00000166436.11|ENSG00000175348.6|ENSG00000175352.6|ENSG00000166452.7|ENSG00000166452.7 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Stomach|Testis|Thyroid 0.6275 0.3496 0.7414 0.5334 0.6784 0.7027 0.6424 0.6466 0.5306 0.5753 0.3638 0.7033 0.5728 0.6877 0.7058 0.6464 0.6115 het 2326.11 149 11 8959545 . C A 2326.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.334;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.4962;MQ=59.19;MQ0=0;MQRankSum=1.362;QD=15.61;ReadPosRankSum=-1.588;VQSLOD=2.7701;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,83:149:99:2356,0,1917 11 8977830 8977830 A G exonic TMEM9B synonymous SNV TMEM9B:NM_020644:exon3:c.T213C:p.V71V 0.33 0.44 0.24 0.45 0.21 0.27 0.2564 0.3982 0.2472 0.4358 0.1977 0.2108 0.2610 0.2872 0.27 0.38 0.21 0.28 0.24 rs2568068 COSM4418660 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2538 0.3982 0.2482 0.2592 0.4394 0.2022 0.2082 0.2612 0.2834 0.2686 0.3973 0.2638 0.2980 0.4480 0.2042 0.1923 0.2219 het 671.35 89 11 8977830 . A G 671.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.983;DP=89;Dels=0.00;FS=8.030;HRun=0;HaplotypeScore=1.8947;MQ=58.63;MQ0=0;MQRankSum=0.690;QD=7.54;ReadPosRankSum=-1.575;VQSLOD=3.4613;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,30:89:99:701,0,1626 11 9052423 9052423 A C exonic SCUBE2 nonsynonymous SNV SCUBE2:NM_001170690:exon14:c.T1758G:p.H586Q,SCUBE2:NM_001330199:exon17:c.T2136G:p.H712Q,SCUBE2:NM_020974:exon17:c.T2052G:p.H684Q 1. 0.99 1. 1. 1. 1. 0.9993 0.9920 0.9998 1 1 0.9999 0.9989 1 1. 0.99 1. 1. 1. rs7395988 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 0.9920 0.9999 1 1 1 0.9999 0.9993 1 0.9980 0.9930 0.9988 1 1 1 1 1 hom 4033.30 122 11 9052423 . A C 4033.30 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.06;VQSLOD=14.0872;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4033,313,0 11 9406349 9406349 T C exonic IPO7 synonymous SNV IPO7:NM_006391:exon1:c.T39C:p.T13T 0.98 0.93 1. 1. 1. 1. 0.9955 0.9483 0.9969 0.9999 1 0.9999 0.9974 0.9999 0.98 0.95 1. 0.97 0.75 rs4606477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9465 0.9966 1 0.9999 1 0.9999 0.9990 0.9999 0.9862 0.9522 0.9940 1 1 1 0.9998 0.9959 hom 508.10 20 11 9406349 . T C 508.10 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.41;VQSLOD=12.2231;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:39.13:541,39,0 11 9537904 9537904 G C exonic ZNF143 nonsynonymous SNV ZNF143:NM_001282657:exon13:c.G1588C:p.E530Q,ZNF143:NM_001282656:exon14:c.G1678C:p.E560Q,ZNF143:NM_003442:exon14:c.G1681C:p.E561Q 0.9 0.99 0.86 0.78 0.97 0.87 0.9261 0.9799 0.7632 0.7481 0.9492 0.9752 0.9409 0.8844 0.98 0.98 0.98 0.9 0.89 rs10743108 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.192 P -1.65 0.004 N 3.08 0.085 T 1.07 0.013 N 0.253 0.309 -0.979 0.352 T 0.000 0.000 T . . . 1.625 0.257 13.99 0.812 0.131 0.240 0.220 N c -0.206 -0.008 1.000 0.747 0.707 0.730 0 5.82 0.927 3.863 0.555 0.067 0.174 1.000 0.715 0.985 0.512 15.515 0.754 . . . 0.9173 0.9790 0.7665 0.9881 0.7550 0.9503 0.9756 0.9343 0.8826 0.9578 0.9787 0.8019 0.9967 0.7571 0.9579 0.9754 0.9542 hom 2119.21 61 11 9537904 . G C 2119.21 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.74;VQSLOD=13.0902;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:2152,169,0 11 9749645 9749645 A C exonic SWAP70 synonymous SNV SWAP70:NM_001297714:exon4:c.A514C:p.R172R,SWAP70:NM_015055:exon5:c.A688C:p.R230R 0.26 0.33 0.18 0.17 0.32 0.24 0.3061 0.3331 0.1486 0.1846 0.4003 0.3457 0.3348 0.2640 0.34 0.34 0.35 0.27 0.28 rs397686 COSM5505067 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3005 0.3325 0.1553 0.3435 0.1805 0.4076 0.3418 0.3101 0.2665 0.3414 0.3328 0.1802 0.2815 0.1901 0.3986 0.3585 0.3592 het 1250.09 119 11 9749645 . A C 1250.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.451;DP=119;Dels=0.00;FS=1.758;HRun=0;HaplotypeScore=5.4308;MQ=59.44;MQ0=0;MQRankSum=0.158;QD=10.50;ReadPosRankSum=0.293;VQSLOD=5.2833;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,51:119:99:1280,0,1901 11 9769562 9769562 C G exonic SWAP70 nonsynonymous SNV SWAP70:NM_001297714:exon9:c.C1339G:p.Q447E,SWAP70:NM_015055:exon10:c.C1513G:p.Q505E 0.52 0.49 0.56 0.39 0.66 0.53 0.6214 0.5148 0.6376 0.4032 0.7463 0.6708 0.6589 0.5400 0.62 0.53 0.67 0.51 0.55 rs415895 COSM5618406 1(breast);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.118 0.250 B 0.016 0.166 B 0.000 0.445 D 0.022 0.394 P 1.085 0.274 L 2.45 0.150 T 0.14 0.054 N 0.107 0.114 -0.971 0.370 T 0.000 0.000 T . . . 1.387 0.230 12.72 0.782 0.118 0.973 0.737 D c -0.142 0.081 1.000 0.747 0.722 0.854 0 5.72 0.893 4.517 0.600 0.935 0.490 1.000 0.715 0.867 0.362 19.880 0.969 . ENSG00000133789.10 Esophagus_Mucosa 0.6253 0.5163 0.6280 0.7142 0.4112 0.7442 0.6620 0.6644 0.5417 0.6199 0.5222 0.6348 0.6821 0.4318 0.7466 0.6616 0.6772 het 1836.46 117 11 9769562 . C G 1836.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.997;DP=117;Dels=0.00;FS=3.813;HRun=1;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;MQRankSum=0.372;QD=15.70;ReadPosRankSum=2.284;VQSLOD=4.7814;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,67:117:99:1866,0,1275 11 10503736 10503736 C T exonic AMPD3 nonsynonymous SNV AMPD3:NM_001172431:exon3:c.C76T:p.R26W,AMPD3:NM_000480:exon4:c.C580T:p.R194W,AMPD3:NM_001025389:exon4:c.C553T:p.R185W,AMPD3:NM_001025390:exon4:c.C574T:p.R192W,AMPD3:NM_001172430:exon4:c.C553T:p.R185W 0.023 0.003 0.035 . 0.075 0.011 0.0540 0.0131 0.0262 0.0001 0.0948 0.0774 0.0657 0.0165 0.062 0.016 0.085 0.022 0.074 rs11042836 . . Likely benign Erythrocyte_AMP_deaminase_deficiency RCV000393007.1 MedGen:OMIM C2752073:612874 . . . . . . 0.028 0.469 D 0.921 0.566 P 0.339 0.447 B 0.570 0.112 N 1 0.090 N 1.1 0.281 L 1.27 0.361 T -1.72 0.476 N 0.022 0.143 -1.091 0.054 T 0.004 0.013 T . . . 2.862 0.405 21.7 0.993 0.599 0.130 0.174 N c -0.781 -0.908 0.083 0.159 0.707 0.730 0 -1.45 0.083 -0.160 0.099 -0.516 0.050 0.000 0.063 0.000 0.016 3.280 0.065 Metal-dependent hydrolase ENSG00000133805.11 Skin_Sun_Exposed_Lower_leg 0.0555 0.0120 0.0299 0.0469 5.807e-05 0.1013 0.0802 0.0562 0.0161 0.0614 0.0158 0.0358 0.0364 0 0.0922 0.0884 0.0754 het 1653.28 141 11 10503736 . C T 1653.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.384;DP=141;DS;Dels=0.00;FS=3.971;HRun=0;HaplotypeScore=0.7340;MQ=59.84;MQ0=0;MQRankSum=-1.802;QD=11.73;ReadPosRankSum=0.980;VQSLOD=5.1583;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,62:141:99:1683,0,2009 11 10521764 10521764 T C exonic AMPD3 synonymous SNV AMPD3:NM_001172431:exon10:c.T1212C:p.Y404Y,AMPD3:NM_000480:exon11:c.T1716C:p.Y572Y,AMPD3:NM_001025389:exon11:c.T1689C:p.Y563Y,AMPD3:NM_001025390:exon11:c.T1710C:p.Y570Y,AMPD3:NM_001172430:exon11:c.T1689C:p.Y563Y 0.37 0.054 0.4 0.69 0.41 0.38 0.4084 0.1115 0.5487 0.6688 0.4126 0.4108 0.4075 0.3493 0.31 0.12 0.41 0.29 0.54 rs3741041 COSM3752105 1(large_intestine) Likely benign Erythrocyte_AMP_deaminase_deficiency RCV000289441.1 MedGen:OMIM C2752073:612874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4179 0.1095 0.5247 0.4084 0.6743 0.4141 0.4102 0.4145 0.3451 0.3357 0.1245 0.4869 0.35 0.6944 0.4055 0.3903 0.4043 het 2901.58 221 11 10521764 . T C 2901.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.658;DP=221;DS;Dels=0.00;FS=3.808;HRun=0;HaplotypeScore=3.8432;MQ=59.33;MQ0=0;MQRankSum=0.357;QD=13.13;ReadPosRankSum=0.553;VQSLOD=5.8663;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:105,116:221:99:2932,0,2892 11 10555589 10555589 A G exonic RNF141 synonymous SNV RNF141:NM_016422:exon2:c.T117C:p.L39L 0.36 0.029 0.4 0.7 0.41 0.36 0.4050 0.0788 0.5512 0.6734 0.3963 0.4144 0.4009 0.3336 0.31 0.089 0.42 0.26 0.49 rs1065052 COSM3752106 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4147 0.0735 0.5258 0.4109 0.6810 0.3960 0.4147 0.4119 0.3295 0.3218 0.0849 0.4785 0.3576 0.6980 0.3910 0.3885 0.4006 het 684.90 67 11 10555589 . A G 684.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.133;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6491;MQ=57.88;MQ0=0;MQRankSum=-0.007;QD=10.22;ReadPosRankSum=2.285;VQSLOD=3.8477;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,28:67:99:715,0,1145 11 10647702 10647702 G A exonic MRVI1 synonymous SNV MRVI1:NM_001206881:exon7:c.C234T:p.L78L,MRVI1:NM_001098579:exon8:c.C1155T:p.L385L,MRVI1:NM_001100163:exon9:c.C906T:p.L302L,MRVI1:NM_001100167:exon9:c.C234T:p.L78L,MRVI1:NM_130385:exon9:c.C1179T:p.L393L 0.45 0.26 0.45 0.69 0.46 0.43 0.5100 0.2982 0.5760 0.7072 0.5549 0.5086 0.4909 0.4346 0.43 0.28 0.49 0.37 . rs2241489 COSM1561152;COSM1561151 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4973 0.2841 0.5400 0.5029 0.7063 0.5381 0.4941 0.4914 0.4090 0.4459 0.2889 0.5144 0.4603 0.7073 0.5304 0.4819 0.4980 hom 738.39 23 11 10647702 . G A 738.39 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;QD=32.10;VQSLOD=9.6074;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:63.19:771,63,0 11 10647995 10647995 G A exonic MRVI1 nonsynonymous SNV MRVI1:NM_001098579:exon8:c.C862T:p.L288F,MRVI1:NM_001100163:exon9:c.C613T:p.L205F,MRVI1:NM_130385:exon9:c.C886T:p.L296F 0.025 0.003 0.026 0.0069 0.038 0.059 0.0384 0.0088 0.0094 0.0070 0.0798 0.0434 0.0492 0.0544 0.029 0.0075 0.04 . . rs35468145 . . . . . . . . . . . . . 0.024 0.477 D 0.974 0.592 D 0.601 0.552 P 0.096 0.201 N 1 0.810 D 2.595 0.761 M 2.78 0.158 T -0.67 0.195 N 0.084 0.208 -1.221 0.001 T 0.022 0.096 T . . . 3.719 0.504 23.3 0.999 0.951 0.925 0.555 D c 0.453 0.452 0.994 0.335 0.516 0.203 0 5.56 0.836 2.361 0.436 1.048 0.713 1.000 0.715 0.287 0.235 14.763 0.691 . . . 0.0357 0.0092 0.0104 0.0085 0.0073 0.0696 0.0423 0.0384 0.0521 0.0354 0.0095 0.0179 0 0.0055 0.0693 0.0474 0.0367 het 486.31 53 11 10647995 . G A 486.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.326;DP=53;Dels=0.00;FS=2.491;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;MQRankSum=0.121;QD=9.18;ReadPosRankSum=0.566;VQSLOD=6.1043;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,19:53:99:516,0,909 11 10650329 10650329 C T exonic MRVI1 synonymous SNV MRVI1:NM_001098579:exon5:c.G594A:p.R198R,MRVI1:NM_001100163:exon6:c.G348A:p.R116R,MRVI1:NM_001206880:exon6:c.G621A:p.R207R,MRVI1:NM_130385:exon6:c.G621A:p.R207R 0.58 0.53 0.64 0.72 0.54 0.51 0.6158 0.5586 0.7354 0.7418 0.6786 0.6058 0.5837 0.5379 0.55 0.53 0.56 0.55 . rs2278125 COSM3752110;COSM3752111 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5737 0.5090 0.6797 0.5350 0.7202 0.6192 0.5490 0.5536 0.4981 0.5665 0.5278 0.6631 0.4867 0.7385 0.6198 0.5531 0.5827 hom 336.88 11 11 10650329 . C T 336.88 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.63;VQSLOD=13.3113;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:370,30,0 11 10655609 10655609 C T exonic MRVI1 nonsynonymous SNV MRVI1:NM_001098579:exon2:c.G208A:p.A70T,MRVI1:NM_001206880:exon3:c.G235A:p.A79T,MRVI1:NM_130385:exon3:c.G235A:p.A79T 0.97 0.9 0.99 1. 0.99 0.99 0.9780 0.9091 0.9914 0.9995 0.9672 0.9803 0.9718 0.9940 0.96 0.91 0.99 0.9 . rs2162044 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.711 0.100 N 1 0.090 P -0.55 0.024 N 2.97 0.425 T 0.49 0.030 N 0.02 0.043 -0.997 0.308 T 0.000 0.000 T . . . -0.703 0.045 0.071 0.116 0.002 0.006 0.027 N c -1.813 -1.822 0.970 0.291 0.603 0.348 0 -6.49 0.017 -0.850 0.044 -1.559 0.009 0.000 0.063 0.004 0.083 4.448 0.110 . . . 0.9798 0.9063 0.9896 0.9791 0.9996 0.9651 0.9829 0.9828 0.9940 0.9585 0.9147 0.9893 0.9901 0.9994 0.9628 0.9750 0.9755 hom 1141.70 37 11 10655609 . C T 1141.70 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6377;MQ=58.35;MQ0=0;QD=30.86;VQSLOD=7.7803;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:96.29:1175,96,0 11 10673739 10673739 T C exonic MRVI1 nonsynonymous SNV MRVI1:NM_001098579:exon1:c.A31G:p.I11V 0.87 0.98 0.82 0.97 0.7 0.86 0.7620 0.9481 0.8687 0.9790 0.6671 0.6726 0.7192 0.8640 0.77 0.94 0.69 0.94 . rs4909945 COSM1350636 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.813 0.068 N 1.000 0.588 P 0 0.065 N 2.87 0.104 T 0.05 0.064 N 0.027 0.029 -1.018 0.245 T 0.000 0.000 T . . . 2.208 0.326 17.56 0.537 0.049 0.058 0.116 N c -1.001 -0.887 1.000 0.747 0.487 0.133 0 -2.56 0.059 -1.012 0.037 -0.798 0.032 0.328 0.253 0.986 0.517 11.718 0.507 . . . 0.7621 0.9502 0.8558 0.7071 0.9784 0.6633 0.6742 0.7281 0.8587 0.7754 0.9437 0.8225 0.7252 0.9802 0.6835 0.6787 0.7188 het 366.74 30 11 10673739 . T C 366.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.021;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;MQRankSum=-0.145;QD=12.22;ReadPosRankSum=-0.603;VQSLOD=6.8067;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,16:30:99:397,0,295 11 10786142 10786142 C T exonic CTR9 synonymous SNV CTR9:NM_001346279:exon12:c.C1461T:p.H487H,CTR9:NM_014633:exon12:c.C1461T:p.H487H 0.61 0.32 0.76 0.78 0.6 0.74 0.6377 0.3593 0.7718 0.8313 0.6411 0.6020 0.6445 0.7594 0.51 0.36 0.59 0.6 0.57 rs3736326 COSM4145205 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6450 0.3542 0.7568 0.6404 0.8317 0.6285 0.5944 0.6535 0.7571 0.5535 0.3711 0.7184 0.6192 0.8395 0.6282 0.5961 0.6255 het 500.66 38 11 10786142 . C T 500.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.760;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1133;MQ=55.98;MQ0=0;MQRankSum=-0.294;QD=13.18;ReadPosRankSum=1.204;VQSLOD=2.9533;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,21:38:99:531,0,378 11 10786175 10786175 C T exonic CTR9 synonymous SNV CTR9:NM_001346279:exon12:c.C1494T:p.T498T,CTR9:NM_014633:exon12:c.C1494T:p.T498T 0.2 0.11 0.15 0.21 0.31 0.23 0.2518 0.1341 0.1704 0.1703 0.3040 0.3006 0.2708 0.2074 0.25 0.14 0.31 0.18 0.29 rs7118399 COSM147144 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2500 0.1350 0.1731 0.2517 0.1671 0.3124 0.3014 0.2526 0.2056 0.2494 0.1332 0.1850 0.28 0.1590 0.3056 0.3147 0.2791 het 302.56 34 11 10786175 . C T 302.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.414;DP=34;Dels=0.00;FS=11.199;HRun=0;HaplotypeScore=0.0000;MQ=58.07;MQ0=0;MQRankSum=-0.162;QD=8.90;ReadPosRankSum=-0.883;VQSLOD=3.8994;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,12:34:99:333,0,601 11 10822350 10822350 C T exonic EIF4G2 synonymous SNV EIF4G2:NM_001042559:exon15:c.G1458A:p.P486P,EIF4G2:NM_001172705:exon16:c.G1572A:p.P524P,EIF4G2:NM_001418:exon16:c.G1572A:p.P524P 0.99 0.96 1. 1. 1. 1. 0.9973 0.9692 0.9990 1 1 1.0000 1 1 0.99 0.97 1. 1. 1. rs7951708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9699 0.9990 1 1 1 1.0000 0.9996 1 0.9908 0.9677 0.9976 1 1 1 1 1 hom 2362.09 79 11 10822350 . C T 2362.09 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=29.90;VQSLOD=8.9544;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2395,187,0 11 11292700 11292700 G C exonic GALNT18 synonymous SNV GALNT18:NM_198516:exon11:c.C1815G:p.L605L 0.4 0.32 0.51 0.38 0.43 0.43 0.4163 0.3465 0.5376 0.3616 0.3958 0.4180 0.4029 0.4060 0.4 0.35 0.43 0.4 0.36 rs10831567 COSM147145 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4226 0.3418 0.5380 0.4661 0.3612 0.3931 0.4167 0.4301 0.3981 0.3835 0.3345 0.4892 0.4669 0.3418 0.3987 0.4039 0.4061 het 838.29 52 11 11292700 . G C 838.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.623;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.11;MQ0=0;MQRankSum=0.421;QD=16.12;ReadPosRankSum=-0.128;VQSLOD=6.7092;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:868,0,635 11 11373587 11373587 A G exonic CSNK2A3 synonymous SNV CSNK2A3:NM_001256686:exon1:c.T1080C:p.T360T 0.95 0.82 0.99 1. 1. 1. 0.9858 0.8603 0.9895 1 1 0.9981 0.9813 0.9995 . . . 0.95 . rs7945066 COSN15632806 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9877 0.8542 0.9875 0.9949 1 0.9998 0.9980 0.9863 0.9995 0.9586 0.8582 0.9904 0.9868 1 1 0.9985 0.9867 hom 2222.06 65 11 11373587 . A G 2222.06 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9411;MQ=49.49;MQ0=0;QD=34.19;VQSLOD=4.3431;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2255,178,0 11 11913585 11913585 G T exonic USP47 nonsynonymous SNV USP47:NM_017944:exon3:c.G224T:p.G75V,USP47:NM_001282659:exon4:c.G428T:p.G143V,USP47:NM_001330208:exon5:c.G488T:p.G163V 0.82 0.96 0.76 0.86 0.7 0.77 0.7502 0.9314 0.7461 0.8641 0.7376 0.7072 0.7433 0.7649 0.78 0.92 0.71 0.79 0.62 rs11022079 COSM3752173;COSM3752174 1(large_intestine) . . . . . . . . . . . 1.0 0.054 T 0.0 0.026 B 0.0 0.013 B 0.001 0.437 N 0.377 0.810 P -0.805 0.016 N 3.7 0.043 T -0.46 0.150 N 0.194 0.238 -1.014 0.256 T 0.000 0.000 T . . . 1.677 0.263 14.28 0.698 0.088 0.115 0.165 N c -0.678 -0.408 0.278 0.190 0.706 0.609 0 5.08 0.682 2.417 0.441 0.148 0.236 1.000 0.715 0.998 0.697 12.156 0.532 . ENSG00000170242.13 Esophagus_Mucosa 0.7477 0.9345 0.7467 0.7045 0.8641 0.7365 0.7066 0.7282 0.7656 0.7914 0.9314 0.7560 0.6954 0.8617 0.7415 0.7204 0.7510 het 2045.81 170 11 11913585 . G T 2045.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.332;DP=170;Dels=0.00;FS=2.714;HRun=0;HaplotypeScore=5.4185;MQ=59.37;MQ0=0;MQRankSum=0.659;QD=12.03;ReadPosRankSum=-0.357;VQSLOD=5.3153;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,84:170:99:2076,0,2246 11 11976628 11976628 G A exonic USP47 synonymous SNV USP47:NM_017944:exon26:c.G3606A:p.Q1202Q,USP47:NM_001282659:exon27:c.G3810A:p.Q1270Q,USP47:NM_001330208:exon28:c.G3870A:p.Q1290Q 0.71 0.87 0.84 0.49 0.69 0.68 0.6850 0.8484 0.8820 0.4841 0.5882 0.6598 0.7067 0.6941 0.73 0.86 0.67 0.79 0.69 rs7933089 COSM3998261;COSM3998260 6(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6926 0.8498 0.8732 0.7779 0.4851 0.5839 0.6599 0.7137 0.7001 0.6906 0.8432 0.8301 0.7682 0.4596 0.5933 0.6421 0.6547 het 1638.64 112 11 11976628 . G A 1638.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.456;DP=112;Dels=0.00;FS=2.479;HRun=1;HaplotypeScore=8.2290;MQ=59.39;MQ0=0;MQRankSum=-0.277;QD=14.63;ReadPosRankSum=0.248;VQSLOD=4.6046;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,60:112:99:1669,0,1437 11 11986061 11986061 T C exonic DKK3 nonsynonymous SNV DKK3:NM_001018057:exon7:c.A1003G:p.R335G,DKK3:NM_001330220:exon8:c.A1045G:p.R349G,DKK3:NM_013253:exon8:c.A1003G:p.R335G,DKK3:NM_015881:exon8:c.A1003G:p.R335G 0.81 0.82 0.88 0.79 0.76 0.84 0.7781 0.8095 0.9116 0.7995 0.6390 0.7461 0.8020 0.8350 0.77 0.81 0.75 0.7 0.77 rs3206824 COSM3998264 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(thymus) . . . . . . . . . . . 0.693 0.044 T 0.0 0.026 B 0.0 0.013 B 0.086 0.024 N 1 0.090 P -2.08 0.002 N 2.29 0.171 T 0.62 0.024 N 0.029 0.010 -1.001 0.297 T 0.000 0.000 T . . . -0.421 0.060 0.344 0.145 0.003 0.026 0.071 N c -1.452 -1.433 1.000 0.747 0.707 0.730 0 -2.65 0.057 -0.360 0.076 0.069 0.176 0.000 0.063 0.008 0.104 7.030 0.240 . . . 0.7839 0.8096 0.9022 0.8853 0.8034 0.6341 0.7459 0.7968 0.8406 0.7566 0.8232 0.8711 0.8676 0.8019 0.6426 0.7328 0.7265 het 1430.62 127 11 11986061 . T C 1430.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.037;DP=127;Dels=0.00;FS=8.838;HRun=3;HaplotypeScore=8.1208;MQ=59.15;MQ0=0;MQRankSum=-1.551;QD=11.26;ReadPosRankSum=-2.003;VQSLOD=2.6803;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,64:127:99:1461,0,1482 11 12225946 12225946 T G exonic MICAL2 synonymous SNV MICAL2:NM_001282666:exon2:c.T414G:p.R138R,MICAL2:NM_001282667:exon2:c.T414G:p.R138R,MICAL2:NM_001282664:exon3:c.T414G:p.R138R,MICAL2:NM_001282665:exon3:c.T414G:p.R138R,MICAL2:NM_001346292:exon3:c.T414G:p.R138R,MICAL2:NM_001346294:exon3:c.T414G:p.R138R,MICAL2:NM_001346298:exon3:c.T414G:p.R138R,MICAL2:NM_001282663:exon4:c.T414G:p.R138R,MICAL2:NM_001282668:exon4:c.T414G:p.R138R,MICAL2:NM_001346293:exon4:c.T414G:p.R138R,MICAL2:NM_001346295:exon4:c.T414G:p.R138R,MICAL2:NM_001346296:exon4:c.T414G:p.R138R,MICAL2:NM_001346297:exon4:c.T414G:p.R138R,MICAL2:NM_001346299:exon4:c.T414G:p.R138R,MICAL2:NM_014632:exon4:c.T414G:p.R138R 0.7 0.89 0.71 0.65 0.59 0.6 0.6161 0.8444 0.6809 0.6716 0.6526 0.5656 0.5914 0.5885 0.65 0.84 0.56 0.77 0.55 rs3763823 COSM4415180;COSM1352045 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6125 0.8505 0.6690 0.5273 0.6702 0.6503 0.5628 0.5979 0.5828 0.6668 0.8389 0.6268 0.4967 0.6687 0.6472 0.5794 0.6258 het 2862.68 247 11 12225946 . T G 2862.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.169;DP=247;DS;Dels=0.00;FS=0.992;HRun=2;HaplotypeScore=7.1022;MQ=58.16;MQ0=0;MQRankSum=0.233;QD=11.59;ReadPosRankSum=0.572;VQSLOD=4.8750;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,110:247:99:2893,0,3377 11 12315407 12315407 G C exonic MICALCL synonymous SNV MICALCL:NM_032867:exon3:c.G429C:p.G143G 0.92 0.92 0.95 0.94 0.95 0.86 0.9265 0.9230 0.9315 0.9432 0.9622 0.9340 0.9331 0.8669 0.93 0.93 0.93 0.95 0.83 rs10741579 COSM4145422 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9269 0.9236 0.9359 0.9269 0.9438 0.9625 0.9323 0.9237 0.8625 0.9381 0.9263 0.9439 0.9205 0.9469 0.9605 0.9396 0.9245 hom 2217.24 65 11 12315407 . G C 2217.24 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.34;MQ0=0;QD=34.11;VQSLOD=8.9903;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2250,178,0 11 12315716 12315716 C T exonic MICALCL synonymous SNV MICALCL:NM_032867:exon3:c.C738T:p.A246A 0.92 0.91 0.95 0.94 0.95 0.88 0.9269 0.9141 0.9310 0.9436 0.9620 0.9338 0.9303 0.8810 0.93 0.92 0.93 0.95 0.82 rs1493951 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9279 0.9137 0.9352 0.9270 0.9437 0.9626 0.9324 0.9225 0.8779 0.9348 0.9152 0.9426 0.9205 0.9462 0.9605 0.9394 0.9265 hom 1217.53 37 11 12315716 . C T 1217.53 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.74;MQ0=0;QD=32.91;VQSLOD=8.8821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1251,102,0 11 12315848 12315848 C T exonic MICALCL synonymous SNV MICALCL:NM_032867:exon3:c.C870T:p.G290G . . . . . . 0.3809 0.5557 0.5247 0.5361 0.3118 0.3128 0.3546 0.4006 0.38 0.52 0.32 0.48 0.28 rs1493952 COSM4145423 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3838 0.5564 0.5142 0.3106 0.5336 0.3161 0.3169 0.3444 0.3939 0.3910 0.5401 0.4952 0.32 0.5388 0.2986 0.3091 0.3327 het 1651.29 144 11 12315848 . C T 1651.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.490;DP=144;Dels=0.00;FS=1.407;HRun=0;HaplotypeScore=1.8650;MQ=59.21;MQ0=0;MQRankSum=0.654;QD=11.47;ReadPosRankSum=0.770;VQSLOD=6.8118;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,68:144:99:1681,0,1774 11 12315891 12315891 G A exonic MICALCL nonsynonymous SNV MICALCL:NM_032867:exon3:c.G913A:p.A305T 0.92 0.91 0.95 0.94 0.95 0.88 0.9269 0.9130 0.9311 0.9440 0.9620 0.9338 0.9298 0.8810 0.93 0.92 0.93 0.95 0.93 rs1493953 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.690 0.061 N 1 0.090 P -1.61 0.004 N 0.72 0.510 T 0.13 0.055 N 0.034 0.014 -1.000 0.299 T 0.000 0.000 T . . . -0.115 0.083 1.621 0.099 0.001 0.004 0.021 N c -1.429 -1.335 0.951 0.279 0.487 0.133 0 2.13 0.263 -0.214 0.092 -0.258 0.088 0.000 0.063 0.021 0.135 2.811 0.051 . . . 0.9279 0.9133 0.9352 0.9271 0.9438 0.9627 0.9323 0.9225 0.8779 0.9347 0.9150 0.9427 0.9205 0.9469 0.9605 0.9394 0.9236 hom 5743.25 192 11 12315891 . G A 5743.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.714;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8809;MQ=59.15;MQ0=0;MQRankSum=1.695;QD=29.91;ReadPosRankSum=0.944;VQSLOD=6.5542;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,190:192:99:5742,463,0 11 12315915 12315915 A G exonic MICALCL nonsynonymous SNV MICALCL:NM_032867:exon3:c.A937G:p.S313G 0.53 0.62 0.48 0.68 0.34 0.49 0.4160 0.5840 0.5374 0.6661 0.3209 0.3336 0.3808 0.4742 0.4 0.55 0.34 0.52 0.26 rs1493954 COSM4145424 1(thyroid) . . . . . . . . . . . 0.035 0.437 D 0.076 0.227 B 0.029 0.203 B 0.006 0.325 N 1 0.090 P 2.045 0.562 M 1.17 0.379 T -1.75 0.414 N 0.063 0.048 -0.979 0.353 T 0.000 0.000 T . . . 3.509 0.479 23.1 0.991 0.527 0.665 0.328 D c -0.400 -0.332 1.000 0.500 0.554 0.246 0 5.41 0.782 2.764 0.470 1.184 0.906 0.358 0.256 0.115 0.194 11.819 0.513 . . . 0.4179 0.5851 0.5266 0.3387 0.6707 0.3263 0.3372 0.3710 0.4679 0.4175 0.5689 0.5179 0.3477 0.6694 0.3085 0.3278 0.3523 het 2091.68 199 11 12315915 . A G 2091.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.660;DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2337;MQ=58.87;MQ0=0;MQRankSum=1.485;QD=10.51;ReadPosRankSum=-0.789;VQSLOD=6.2709;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,92:199:99:2122,0,2968 11 12316146 12316146 C A exonic MICALCL nonsynonymous SNV MICALCL:NM_032867:exon3:c.C1168A:p.P390T 0.002 . 0.0029 . 0.006 0.002 0.0027 0.0010 0.0035 0 0.0003 0.0036 0.0044 0.0021 0.0035 0.0011 0.0046 . . rs35331235 . . . . . . . . . . . . . 0.089 0.321 T 0.112 0.247 B 0.069 0.263 B 0.014 0.287 N 1 0.090 N 2.085 0.579 M 2.89 0.102 T -1.95 0.452 N 0.229 0.281 -1.023 0.229 T 0.023 0.096 T 0.009 0.227 T 1.364 0.228 12.60 0.814 0.132 0.152 0.186 N c -0.592 -0.585 0.998 0.357 0.554 0.246 0 4.78 0.605 -0.015 0.125 0.881 0.386 0.000 0.063 0.026 0.142 10.937 0.463 ProQ/FinO domain . . 0.0028 0.0011 0.0028 0.0010 0 0.0005 0.0040 0.0047 0.0025 0.0018 0.0016 0.0024 0.0033 0 0 0.0026 0 het 1316.34 114 11 12316146 . C A 1316.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.584;DP=114;Dels=0.00;FS=4.595;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=0.672;QD=11.55;ReadPosRankSum=0.828;VQSLOD=5.4473;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,52:114:99:1346,0,1887 11 12903443 12903443 C T exonic TEAD1 synonymous SNV TEAD1:NM_021961:exon8:c.C513T:p.D171D 0.43 0.3 0.29 0.84 0.42 0.31 0.4246 0.3149 0.3721 0.8390 0.5195 0.4107 0.4042 0.3328 0.38 0.32 0.41 0.45 0.37 rs2304733 COSM5432727;COSM5432728 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4264 0.3132 0.3636 0.2676 0.8411 0.5157 0.4190 0.3972 0.3373 0.4361 0.3175 0.3425 0.2881 0.8453 0.5137 0.4482 0.4775 het 1550.15 122 11 12903443 . C T 1550.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.614;DP=122;Dels=0.00;FS=0.687;HRun=0;HaplotypeScore=4.6216;MQ=59.15;MQ0=0;MQRankSum=1.055;QD=12.71;ReadPosRankSum=-0.302;VQSLOD=5.9553;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,61:122:99:1580,0,1527 11 13441126 13441126 A G exonic BTBD10 synonymous SNV BTBD10:NM_001297741:exon3:c.T321C:p.N107N,BTBD10:NM_001297742:exon3:c.T489C:p.N163N,BTBD10:NM_032320:exon4:c.T465C:p.N155N 0.15 0.084 0.3 0.17 0.15 0.11 0.1717 0.0877 0.3444 0.1637 0.2156 0.1628 0.1597 0.1271 0.14 0.086 0.17 0.14 0.12 rs7114113 COSM3752255 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1815 0.0856 0.3251 0.1010 0.1618 0.2155 0.1699 0.1768 0.1280 0.1594 0.0949 0.2644 0.0960 0.1570 0.2285 0.1747 0.1874 het 3993.66 247 11 13441126 . A G 3993.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.732;DP=247;DS;Dels=0.00;FS=4.547;HRun=0;HaplotypeScore=3.4612;MQ=57.99;MQ0=0;MQRankSum=1.055;QD=16.17;ReadPosRankSum=0.215;VQSLOD=3.8625;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,135:247:99:3376,0,2978 11 13443250 13443250 C T exonic BTBD10 synonymous SNV BTBD10:NM_001297741:exon2:c.G93A:p.T31T,BTBD10:NM_001297742:exon2:c.G261A:p.T87T,BTBD10:NM_032320:exon3:c.G237A:p.T79T 0.14 0.054 0.3 0.17 0.15 0.11 0.1697 0.0655 0.3441 0.1637 0.2150 0.1626 0.1597 0.1271 0.14 0.066 0.17 0.14 0.12 rs3789325 COSM3752256 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1799 0.0640 0.3241 0.1012 0.1618 0.2150 0.1697 0.1748 0.1280 0.1533 0.0734 0.2620 0.0960 0.1564 0.2292 0.1748 0.1874 het 1828.86 128 11 13443250 . C T 1828.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.845;DP=128;Dels=0.00;FS=1.404;HRun=0;HaplotypeScore=1.8273;MQ=56.58;MQ0=0;MQRankSum=0.186;QD=14.29;ReadPosRankSum=-2.159;VQSLOD=3.2553;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,63:128:99:1859,0,1702 11 13984583 13984583 C T exonic SPON1 unknown UNKNOWN 0.24 0.21 0.16 0.17 0.23 0.39 0.3672 0.3337 0.2522 0.2709 0.3072 0.3827 0.3876 0.4080 0.24 0.2 0.26 0.12 . rs3761859 COSM3979426 1(lung) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2442 0.2032 0.1435 0.2817 0.1564 0.1686 0.2748 0.2610 0.3588 0.2332 0.2145 0.1818 0.2616 0.1685 0.1691 0.2663 0.2653 het 132.21 10 11 13984583 . C T 132.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DP=10;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.9987;MQ=56.16;MQ0=0;MQRankSum=0.000;QD=13.22;ReadPosRankSum=0.365;VQSLOD=2.5251;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,6:10:99:162,0,115 11 14101493 14101493 - C exonic SPON1 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 0.087 . rs869278364 COSM5713193 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 4521.63 103 11 14101493 . G GC 4521.63 Mask AC=2;AF=1.00;AN=2;DP=103;FS=0.000;HRun=1;HaplotypeScore=210.1110;MQ=60.00;MQ0=0;QD=43.90;set=variant2 GT:AD:DP:GQ:PL 1/1:3,100:103:99:4522,307,0 11 14264916 14264916 A G exonic SPON1 unknown UNKNOWN 0.44 0.56 0.56 0.24 0.41 0.41 0.5166 0.5759 0.7135 0.3801 0.4614 0.5270 0.4482 0.4192 0.48 0.52 0.46 0.58 . rs2303973 COSM3998352 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4550 0.5272 0.6493 0.4681 0.2303 0.3903 0.4493 0.4481 0.3961 0.4687 0.5409 0.6372 0.4834 0.2265 0.4055 0.4601 0.4347 het 97.58 17 11 14264916 . A G 97.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DP=17;Dels=0.00;FS=2.077;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=-0.553;QD=5.74;ReadPosRankSum=0.050;VQSLOD=4.6879;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,6:17:99:128,0,301 11 14810762 14810762 A G exonic PDE3B synonymous SNV PDE3B:NM_000922:exon4:c.A1389G:p.R463R 0.67 0.71 0.7 0.68 0.62 0.65 0.6291 0.6835 0.6307 0.6560 0.6407 0.6077 0.6600 0.6599 0.63 0.68 0.61 0.61 0.48 rs4757268 COSM147149 1(stomach);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6320 0.6828 0.6342 0.7441 0.6568 0.6404 0.6008 0.6473 0.6599 0.6269 0.6825 0.6089 0.7483 0.6534 0.6360 0.5901 0.5932 het 377.79 45 11 14810762 . A G 377.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.407;DP=45;Dels=0.00;FS=7.140;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=0.397;QD=8.40;ReadPosRankSum=-0.060;VQSLOD=4.7122;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,15:45:99:408,0,764 11 14991539 14991539 T C exonic CALCA nonsynonymous SNV CALCA:NM_001033952:exon3:c.A169G:p.N57D,CALCA:NM_001033953:exon3:c.A169G:p.N57D,CALCA:NM_001741:exon3:c.A169G:p.N57D 0.99 0.95 1. 1. 1. 1. 0.9953 0.9492 0.9980 1 1 0.9998 1 0.9999 0.98 0.95 1. 0.98 0.92 rs5239 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9488 0.9973 1 1 1 0.9998 0.9978 0.9999 0.9856 0.9503 0.9952 1 1 1 0.9997 0.9949 hom 3198.94 98 11 14991539 . T C 3198.94 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.08;MQ0=0;QD=32.64;VQSLOD=9.3806;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3232,256,0 11 15199957 15199957 T C exonic INSC synonymous SNV INSC:NM_001278313:exon4:c.T543C:p.G181G,INSC:NM_001278314:exon4:c.T543C:p.G181G,INSC:NM_001278315:exon4:c.T543C:p.G181G,INSC:NM_001278316:exon4:c.T543C:p.G181G,INSC:NM_001031853:exon5:c.T684C:p.G228G,INSC:NM_001042536:exon5:c.T543C:p.G181G 0.89 0.84 0.9 0.98 0.86 0.91 0.8634 0.8281 0.9179 0.9858 0.8157 0.8366 0.8686 0.9092 0.84 0.84 0.84 0.84 0.83 rs1714376 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8647 0.8292 0.9111 0.8308 0.9832 0.8163 0.839 0.8508 0.9057 0.8390 0.8201 0.9057 0.8742 0.9889 0.8045 0.8367 0.8490 hom 2977.49 89 11 15199957 . T C 2977.49 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.45;VQSLOD=12.9718;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:3010,235,0 11 17035718 17035718 A G exonic PLEKHA7 synonymous SNV PLEKHA7:NM_001329630:exon2:c.T117C:p.H39H,PLEKHA7:NM_001329631:exon2:c.T117C:p.H39H,PLEKHA7:NM_175058:exon2:c.T117C:p.H39H 0.71 0.54 0.73 0.97 0.61 0.75 0.6942 0.5495 0.8228 0.9575 0.5870 0.6498 0.6626 0.7367 0.63 0.57 0.66 . 0.48 rs61881311 COSM3749144 1(liver);1(thyroid);11(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.025 0.810 P . . . . . . -5.0 0.823 D . . -1.061 0.114 T 0.000 0.000 T . . . 1.074 0.197 11.07 0.595 0.061 0.037 0.089 N c -0.451 -0.495 1.000 0.747 0.789 0.998 0 3.15 0.351 1.007 0.293 -0.073 0.120 0.999 0.424 0.019 0.132 8.259 0.308 . ENSG00000184669.6|ENSG00000184669.6|ENSG00000184669.6|ENSG00000184669.6 Lung|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6926 0.5332 0.8087 0.6274 0.9609 0.5837 0.6457 0.6571 0.7368 0.6282 0.5579 0.7556 0.6391 0.9585 0.5942 0.6338 0.6237 het 203.42 40 11 17035718 . A G 203.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.865;DP=40;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=0.129;QD=5.09;ReadPosRankSum=1.287;VQSLOD=4.6432;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,11:40:99:233,0,683 11 17172133 17172133 T C exonic PIK3C2A synonymous SNV PIK3C2A:NM_001321380:exon3:c.A99G:p.A33A,PIK3C2A:NM_002645:exon4:c.A1239G:p.A413A,PIK3C2A:NM_001321378:exon5:c.A1239G:p.A413A 0.85 0.87 0.94 0.59 1. 0.86 0.9333 0.8814 0.9039 0.5646 0.9897 0.9959 0.9604 0.9025 0.96 0.89 1. 0.88 0.98 rs2302511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9338 0.8778 0.9102 0.9905 0.5607 0.9907 0.9961 0.9622 0.9042 0.9362 0.8816 0.9342 1 0.5401 0.9851 0.9964 0.9633 hom 2885.44 104 11 17172133 . T C 2885.44 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.454;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.7618;MQ=58.74;MQ0=0;MQRankSum=1.564;QD=27.74;ReadPosRankSum=1.665;VQSLOD=4.1588;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,102:104:99:2918,209,0 11 17191019 17191019 A G exonic PIK3C2A synonymous SNV PIK3C2A:NM_002645:exon2:c.T270C:p.I90I,PIK3C2A:NM_001321378:exon3:c.T270C:p.I90I 0.36 0.37 0.38 0.18 0.5 0.38 0.4133 0.3792 0.3515 0.1596 0.4998 0.4594 0.4449 0.3881 0.44 0.38 0.46 0.35 0.5 rs214936 COSM4418385 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4115 0.3774 0.3478 0.4097 0.1618 0.4909 0.4629 0.4320 0.3909 0.4317 0.3771 0.3589 0.42 0.1685 0.5032 0.4792 0.4355 het 2880.71 199 11 17191019 . A G 2880.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.310;DP=199;Dels=0.00;FS=2.466;HRun=0;HaplotypeScore=1.9962;MQ=58.97;MQ0=0;MQRankSum=0.537;QD=14.48;ReadPosRankSum=1.130;VQSLOD=6.3870;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,108:199:99:2911,0,2156 11 17333663 17333663 G A exonic;splicing NUCB2;NUCB2 NM_005013:exon10:c.907+1G>A nonsynonymous SNV NUCB2:NM_001330227:exon10:c.G908A:p.S303N 1. 1. 1. 1. 1. 1. 1.0000 0.9998 1 1 1 1.0000 1 1 1. 1. 1. 1. 0.98 rs2521998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9998 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 3896.46 128 11 17333663 . G A 3896.46 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=30.44;VQSLOD=7.9704;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:3896,304,0 11 17352478 17352480 ACA - exonic NUCB2 nonframeshift deletion NUCB2:NM_001330227:exon12:c.1113_1115del:p.Q373del,NUCB2:NM_005013:exon13:c.1203_1205del:p.Q403del 0.25 0.11 0.15 0.51 0.3 0.2 0.2574 0.1278 0.1054 0.4992 0.3763 0.2745 0.2438 0.1982 0.23 0.13 0.27 0.076 . rs535406012 COSM1237695 1(thyroid);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2513 0.1208 0.1076 0.1911 0.5045 0.3634 0.2720 0.2463 0.1952 0.2657 0.1277 0.1187 0.2053 0.5249 0.3761 0.3012 0.2791 het 738.91 53 11 17352477 . TACA T 738.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.562;DP=53;FS=1.101;HRun=0;HaplotypeScore=202.5703;MQ=59.77;MQ0=0;MQRankSum=-0.945;QD=13.94;ReadPosRankSum=2.601;set=variant2 GT:AD:DP:GQ:PL 0/1:33,20:53:99:778,0,1982 11 17408630 17408630 C T exonic KCNJ11 nonsynonymous SNV KCNJ11:NM_000525:exon1:c.G1009A:p.V337I,KCNJ11:NM_001166290:exon2:c.G748A:p.V250I 0.73 0.95 0.7 0.66 0.65 0.6 0.6448 0.9146 0.6097 0.6396 0.5243 0.6260 0.6366 0.6271 0.73 0.91 0.64 0.71 0.69 rs5215 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Transient_Neonatal_Diabetes\x2c_Dominant|Hyperinsulinism\x2c_Dominant/Recessive|Maturity-onset_diabetes_of_the_young RCV000146099.2|RCV000262909.1|RCV000315713.1|RCV000357357.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN169374|CN239283|CN239464|HP:0004904:CN004347 Type 2 diabetes 0.88 . 17463249 rs5215 5E-11 0.154 0.244 T 0.004 0.112 B 0.009 0.133 B 0.105 0.197 N 1.000 0.090 P . . . -3.36 0.941 D -0.1 0.085 N 0.014 0.006 -0.825 0.537 T 0.000 0.000 T . . . 1.317 0.222 12.36 0.935 0.226 0.070 0.129 N c -1.033 -1.053 1.000 0.747 0.632 0.408 0 -5.99 0.020 -0.120 0.105 0.090 0.195 0.009 0.180 0.998 0.697 21.971 1.000 Immunoglobulin E-set|Potassium channel\x2c inwardly rectifying\x2c Kir\x2c cytoplasmic ENSG00000260196.1|ENSG00000188211.4|ENSG00000187486.5|ENSG00000184669.6|ENSG00000260196.1|ENSG00000188211.4|ENSG00000260196.1|ENSG00000188211.4|ENSG00000187486.5|ENSG00000188211.4|ENSG00000187486.5|ENSG00000188211.4|ENSG00000260196.1 Adipose_Subcutaneous|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.6369 0.9184 0.6156 0.6381 0.6329 0.5211 0.6304 0.6416 0.6285 0.7014 0.9109 0.6100 0.6556 0.6351 0.5378 0.6373 0.5990 het 2505.09 196 11 17408630 . C T 2505.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.305;DP=196;Dels=0.00;FS=2.548;HRun=0;HaplotypeScore=5.6799;MQ=59.76;MQ0=0;MQRankSum=-0.924;QD=12.78;ReadPosRankSum=-0.212;VQSLOD=4.6855;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,99:196:99:2535,0,2483 11 17409572 17409572 T C exonic KCNJ11 nonsynonymous SNV KCNJ11:NM_000525:exon1:c.A67G:p.K23E 0.74 0.98 0.71 0.66 0.65 0.6 0.6471 0.9367 0.6110 0.6401 0.5260 0.6261 0.6366 0.6275 0.74 0.93 0.64 0.74 0.66 rs5219 COSM3765554 1(liver) other|drug response|Benign|Benign|other|other|Likely benign Diabetes_mellitus_type_2|Exercise_stress_response\x2c_impaired\x2c_association_with|Permanent_neonatal_diabetes_mellitus|not_specified|Transient_Neonatal_Diabetes\x2c_Dominant|Hyperinsulinism\x2c_Dominant/Recessive|Maturity-onset_diabetes_of_the_young RCV000009214.4|RCV000009215.4|RCV000020356.2|RCV000146116.3|RCV000281825.1|RCV000294608.1|RCV000385348.1 MedGen:OMIM:SNOMED_CT|MedGen|MedGen:OMIM|MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen C0011860:125853:44054006|C3152078|C1833104:606176|CN169374|CN239283|CN239464|HP:0004904:CN004347 Type 2 diabetes 0.88 . 17463248 rs5219 7E-11 0.322 0.135 T 0.0 0.026 B 0.001 0.040 B 0.001 0.424 N 1 0.443 P . . . -2.18 0.867 D -0.32 0.123 N 0.067 0.410 -0.974 0.363 T 0.000 0.000 T . . . -0.590 0.050 0.132 0.915 0.202 0.214 0.212 N c -0.709 -0.656 1.000 0.747 0.718 0.821 0 4.3 0.504 2.121 0.414 0.016 0.142 0.907 0.314 0.808 0.339 8.471 0.320 . ENSG00000260196.1|ENSG00000188211.4|ENSG00000187486.5|ENSG00000184669.6|ENSG00000260196.1|ENSG00000188211.4|ENSG00000260196.1|ENSG00000188211.4|ENSG00000187486.5|ENSG00000188211.4|ENSG00000187486.5|ENSG00000188211.4|ENSG00000260196.1 Adipose_Subcutaneous|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.6388 0.9402 0.6172 0.6378 0.6330 0.5221 0.6306 0.6425 0.6289 0.7081 0.9334 0.6103 0.6556 0.6329 0.5395 0.6378 0.6004 het 1654.67 130 11 17409572 . T C 1654.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.467;DP=130;Dels=0.00;FS=7.447;HRun=0;HaplotypeScore=1.8499;MQ=59.32;MQ0=0;MQRankSum=0.176;QD=12.73;ReadPosRankSum=1.174;VQSLOD=4.7090;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,66:130:99:1685,0,1712 11 17414570 17414570 C T exonic ABCC8 nonsynonymous SNV ABCC8:NM_000352:exon39:c.G4714A:p.V1572I,ABCC8:NM_001287174:exon39:c.G4717A:p.V1573I,ABCC8:NM_001351295:exon39:c.G4780A:p.V1594I,ABCC8:NM_001351296:exon39:c.G4714A:p.V1572I,ABCC8:NM_001351297:exon39:c.G4711A:p.V1571I 0.031 0.027 0.033 0.001 0.053 0.044 0.0562 0.0284 0.0283 0.0005 0.0384 0.0709 0.0721 0.0693 0.055 0.035 0.066 0.011 0.057 rs8192690 COSM5456103 1(large_intestine) Benign|other|Likely benign|Benign|other not_specified|Transient_Neonatal_Diabetes\x2c_Dominant|Maturity-onset_diabetes_of_the_young|Permanent_neonatal_diabetes_mellitus|Hyperinsulinism\x2c_Dominant/Recessive RCV000145003.2|RCV000293707.1|RCV000348648.1|RCV000364373.1|RCV000389101.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM|MedGen CN169374|CN239283|HP:0004904:CN004347|C1833104:606176|CN239464 . . . . . . 0.461 0.088 T 0.005 0.119 B 0.002 0.063 B 0.001 0.399 N 0.999 0.470 D -0.105 0.046 N -2.66 0.903 D 0.09 0.059 N 0.022 0.005 -0.886 0.493 T 0.060 0.250 T . . . 1.387 0.230 12.72 0.863 0.159 0.257 0.226 N c -0.962 -0.828 0.999 0.379 0.713 0.819 0 1.28 0.206 0.486 0.219 0.065 0.171 0.037 0.206 0.947 0.422 8.346 0.313 ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.0549 0.0286 0.0292 0.14 0.0004 0.0398 0.0659 0.0680 0.0682 0.0466 0.0279 0.0274 0.1457 0 0.0446 0.0613 0.0592 het 1526.71 126 11 17414570 . C T 1526.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.146;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9389;MQ=59.15;MQ0=0;MQRankSum=0.822;QD=12.12;ReadPosRankSum=0.551;VQSLOD=4.9885;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,62:126:99:1557,0,1551 11 17418477 17418477 C A exonic ABCC8 nonsynonymous SNV ABCC8:NM_000352:exon33:c.G4105T:p.A1369S,ABCC8:NM_001287174:exon33:c.G4108T:p.A1370S,ABCC8:NM_001351295:exon33:c.G4171T:p.A1391S,ABCC8:NM_001351296:exon33:c.G4105T:p.A1369S,ABCC8:NM_001351297:exon33:c.G4102T:p.A1368S 0.73 0.97 0.69 0.64 0.65 0.58 0.6431 0.9382 0.6094 0.6206 0.5216 0.6246 0.6347 0.6155 0.74 0.93 0.64 0.73 0.66 rs757110 COSM5426905 1(haematopoietic_and_lymphoid_tissue) other|Benign|Benign|Benign not_specified|Hyperinsulinism\x2c_Dominant/Recessive|Transient_Neonatal_Diabetes\x2c_Dominant|Permanent_neonatal_diabetes_mellitus RCV000144996.2|RCV000269263.1|RCV000326750.1|RCV000388290.1 MedGen|MedGen|MedGen|MedGen:OMIM CN169374|CN239464|CN239283|C1833104:606176 . . . . . . 0.41 0.101 T 0.0 0.026 B 0.0 0.013 B 0.019 0.274 N 1.000 0.182 P 0.76 0.193 N -3.18 0.931 D 0.98 0.015 N 0.664 0.675 -1.002 0.294 T 0.000 0.000 T . . . 0.929 0.183 10.25 0.162 0.004 0.309 0.240 N c -0.578 -0.548 0.494 0.209 0.578 0.323 0 2.37 0.282 -0.071 0.114 -0.751 0.034 0.016 0.191 0.766 0.326 8.308 0.310 AAA+ ATPase domain|ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase;ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase ENSG00000260196.1|ENSG00000188211.4|ENSG00000187486.5|ENSG00000184669.6|ENSG00000260196.1|ENSG00000188211.4|ENSG00000260196.1|ENSG00000187486.5|ENSG00000187486.5|ENSG00000188211.4|ENSG00000260196.1 Adipose_Subcutaneous|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.6342 0.9414 0.6165 0.6116 0.6177 0.5181 0.6299 0.6351 0.6157 0.7072 0.9341 0.6098 0.6358 0.6174 0.5412 0.6372 0.6012 het 863.99 95 11 17418477 . C A 863.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.704;DP=95;Dels=0.00;FS=1.949;HRun=0;HaplotypeScore=3.0748;MQ=59.36;MQ0=0;MQRankSum=1.535;QD=9.09;ReadPosRankSum=0.192;VQSLOD=6.1085;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,40:95:99:894,0,1456 11 17434284 17434284 G A exonic ABCC8 synonymous SNV ABCC8:NM_000352:exon21:c.C2485T:p.L829L,ABCC8:NM_001287174:exon21:c.C2488T:p.L830L,ABCC8:NM_001351295:exon21:c.C2551T:p.L851L,ABCC8:NM_001351296:exon21:c.C2485T:p.L829L,ABCC8:NM_001351297:exon21:c.C2482T:p.L828L 0.12 0.29 0.059 0.021 0.095 0.063 0.1251 0.2973 0.0628 0.0408 0.2021 0.1185 0.1300 0.0929 0.15 0.25 0.097 0.16 0.066 rs1805036 . . other|Benign|Benign|Benign not_specified|Hyperinsulinism\x2c_Dominant/Recessive|Transient_Neonatal_Diabetes\x2c_Dominant|Permanent_neonatal_diabetes_mellitus RCV000144986.2|RCV000269562.1|RCV000304886.1|RCV000364184.1 MedGen|MedGen|MedGen|MedGen:OMIM CN169374|CN239464|CN239283|C1833104:606176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0966 0.2614 0.0510 0.0826 0.0308 0.1460 0.0964 0.0990 0.0750 0.1409 0.2535 0.0670 0.0762 0.0278 0.1375 0.0960 0.1100 het 349.18 41 11 17434284 . G A 349.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.122;DP=41;Dels=0.00;FS=1.367;HRun=1;HaplotypeScore=0.9987;MQ=58.51;MQ0=0;MQRankSum=1.394;QD=8.52;ReadPosRankSum=0.311;VQSLOD=5.5225;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,15:41:99:379,0,754 11 17452492 17452492 G A exonic ABCC8 synonymous SNV ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H 0.43 0.48 0.35 0.31 0.44 0.52 0.4311 0.4812 0.3021 0.2844 0.4180 0.4470 0.4546 0.5041 0.46 0.47 0.45 0.43 0.35 rs1799857 COSM4145596 1(thyroid) other|Benign|Benign|Benign not_specified|Transient_Neonatal_Diabetes\x2c_Dominant|Hyperinsulinism\x2c_Dominant/Recessive|Permanent_neonatal_diabetes_mellitus RCV000144979.2|RCV000302706.1|RCV000359236.1|RCV000402117.1 MedGen|MedGen|MedGen|MedGen:OMIM CN169374|CN239283|CN239464|C1833104:606176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4218 0.4794 0.3080 0.4388 0.2817 0.4137 0.4474 0.4221 0.5033 0.4321 0.4773 0.3305 0.3907 0.2769 0.3969 0.4377 0.4271 het 1507.23 118 11 17452492 . G A 1507.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.220;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9965;MQ=59.02;MQ0=0;MQRankSum=0.529;QD=12.77;ReadPosRankSum=0.014;VQSLOD=6.4405;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,56:118:99:1537,0,1880 11 17519742 17519742 C G exonic USH1C nonsynonymous SNV USH1C:NM_001297764:exon18:c.G1500C:p.E500D,USH1C:NM_005709:exon19:c.G1557C:p.E519D,USH1C:NM_153676:exon24:c.G2457C:p.E819D 0.42 0.42 0.37 0.3 0.56 0.44 0.4875 0.4213 0.3533 0.3068 0.5289 0.5497 0.4912 0.4496 0.52 0.43 0.56 0.4 0.46 rs1064074 COSM3736036;COSM3736035 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(skin);1(large_intestine) Benign|Likely benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Retinitis_pigmentosa-deafness_syndrome RCV000041279.3|RCV000302668.1|RCV000390848.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239439|C0271097:500004:ORPHA886:57838006 . . . . . . 0.089 0.486 T 0.006 0.205 B 0.016 0.254 B 0.000 0.629 D 0.998 0.281 P 0.345 0.112 N 1.69 0.270 T -1.43 0.356 N 0.128 0.202 -0.959 0.394 T 0.000 0.000 T . . . 4.604 0.617 24.4 0.996 0.763 0.694 0.339 D c -0.392 -0.193 1.000 0.747 0.696 0.573 0 3.37 0.375 0.448 0.213 0.935 0.490 0.999 0.424 0.992 0.562 11.099 0.472 PDZ domain . . 0.4841 0.4199 0.3610 0.5150 0.3089 0.5351 0.5532 0.4925 0.4492 0.4829 0.4215 0.4089 0.5367 0.3071 0.5117 0.5317 0.5164 hom 7569.91 250 11 17519742 . C G 7569.91 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5928;MQ=59.55;MQ0=0;QD=30.28;VQSLOD=5.5234;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7531,656,0 11 18159169 18159169 A G exonic MRGPRX3 synonymous SNV MRGPRX3:NM_054031:exon3:c.A420G:p.S140S 0.95 0.84 0.99 1. 1. 1. 0.9860 0.8519 0.9942 0.9976 1 0.9991 0.9934 0.9998 0.95 0.86 1. 0.95 1. rs2468839 COSM4145608 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9891 0.8525 0.9930 0.9977 0.9973 1.0000 0.9993 0.9940 0.9996 0.9588 0.8571 0.9940 0.9967 0.9957 1 0.9993 0.9918 hom 7638.81 236 11 18159169 . A G 7638.81 Mask AC=2;AF=1.00;AN=2;DP=236;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.3812;MQ=59.11;MQ0=0;QD=32.37;VQSLOD=5.1154;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,236:236:99:7637,644,0 11 18159254 18159254 A G exonic MRGPRX3 nonsynonymous SNV MRGPRX3:NM_054031:exon3:c.A505G:p.N169D 0.74 0.54 0.84 0.87 0.78 0.79 0.7697 0.5683 0.8593 0.8758 0.7611 0.7688 0.8095 0.7831 0.7 0.58 0.77 0.73 0.88 rs4274188 COSM3752267 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.010 0.013 N 1 0.090 P -0.84 0.015 N 1.4 0.336 T 1.51 0.010 N 0.002 0.001 -0.975 0.362 T 0.000 0.000 T . . . -1.928 0.009 0.001 0.435 0.032 0.001 0.009 N c -1.853 -1.882 0.000 0.029 0.497 0.185 0 -1.77 0.075 -2.675 0.009 -0.292 0.083 0.000 0.063 0.002 0.062 7.827 0.283 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000129158.6|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000179826.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000255448.1|ENSG00000129158.6|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000179826.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5|ENSG00000166788.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.7781 0.5676 0.8598 0.8044 0.8676 0.7505 0.7709 0.7705 0.7827 0.7222 0.5694 0.8389 0.8079 0.8609 0.7643 0.7746 0.7706 hom 7100.44 225 11 18159254 . A G 7100.44 Mask AC=2;AF=1.00;AN=2;DP=225;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2653;MQ=59.15;MQ0=0;QD=31.56;VQSLOD=7.0310;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:7100,554,0 11 18194827 18194827 C G exonic MRGPRX4 nonsynonymous SNV MRGPRX4:NM_054032:exon1:c.C24G:p.F8L 0.33 0.25 0.34 0.44 0.31 0.34 0.3077 0.2470 0.3433 0.4346 0.2398 0.2849 0.3124 0.3838 0.27 0.25 0.29 0.26 0.28 rs2468774 . . . . . . . . . . . . . 0.657 0.047 T 0.0 0.026 B 0.0 0.013 B 0.048 0.020 N 1 0.090 P -1.905 0.002 N 2.35 0.162 T -0.95 0.253 N 0.029 0.010 -0.928 0.445 T 0.000 0.000 T . . . -0.380 0.063 0.432 0.429 0.032 0.001 0.006 N c -1.585 -1.583 0.003 0.099 0.487 0.133 0 1.49 0.219 0.051 0.139 -0.945 0.024 0.000 0.063 0.000 0.016 3.850 0.084 . . . 0.3059 0.2437 0.3432 0.2816 0.4320 0.2414 0.2875 0.2839 0.3500 0.2757 0.2447 0.3098 0.3113 0.4413 0.2501 0.2787 0.2822 hom 8678.14 250 11 18194827 . C G 8678.14 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5149;MQ=54.68;MQ0=1;QD=34.71;VQSLOD=4.1204;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8677,689,0 11 18194878 18194878 T G exonic MRGPRX4 nonsynonymous SNV MRGPRX4:NM_054032:exon1:c.T75G:p.N25K 0.33 0.26 0.34 0.44 0.31 0.34 0.3027 0.2461 0.3420 0.4335 0.2399 0.2828 0.3097 0.3476 0.27 0.25 0.29 0.26 0.34 rs2445180 . . . . . . . . . . . . . 0.994 0.019 T 0.0 0.026 B 0.0 0.013 B 0.000 0.004 N 1 0.090 P -1.545 0.005 N -0.08 0.639 T 0.94 0.015 N 0.025 0.007 -1.021 0.234 T 0.000 0.000 T . . . -2.888 0.002 0.001 0.261 0.012 0.004 0.019 N c -1.999 -2.070 0.465 0.206 0.487 0.133 0 -4.82 0.029 -1.635 0.021 -0.382 0.065 0.000 0.063 0.000 0.016 4.565 0.115 . . . 0.3055 0.2439 0.3426 0.2812 0.4314 0.2409 0.2874 0.2826 0.3497 0.2751 0.2433 0.3086 0.3121 0.4396 0.2506 0.2785 0.2838 hom 8408.17 250 11 18194878 . T G 8408.17 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1800;MQ=55.89;MQ0=1;QD=33.63;VQSLOD=3.6768;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8407,665,0 11 18194964 18194964 A G exonic MRGPRX4 nonsynonymous SNV MRGPRX4:NM_054032:exon1:c.A161G:p.Y54C 0.37 0.39 0.36 0.44 0.31 0.34 0.3154 0.3731 0.3497 0.4344 0.2411 0.2845 0.3135 0.3478 0.31 0.37 0.29 0.36 0.34 rs1869788 COSM4145609 1(thyroid) . . . . . . . . . . . 0.079 0.337 T 0.0 0.026 B 0.0 0.013 B 0.007 0.315 N 1 0.090 P -0.505 0.026 N 2.99 0.093 T -3.55 0.687 D 0.037 0.017 -0.928 0.444 T 0.000 0.000 T . . . -0.091 0.085 1.797 0.416 0.030 0.033 0.083 N c -2.246 -2.202 0.002 0.095 0.487 0.133 0 0.397 0.155 -0.551 0.061 -0.876 0.028 0.002 0.151 0.022 0.137 5.425 0.156 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3162 0.3717 0.3508 0.2961 0.4318 0.2422 0.2885 0.2922 0.3507 0.3112 0.3657 0.3186 0.3311 0.4400 0.2514 0.2798 0.2943 hom 8132.39 238 11 18194964 . A G 8132.39 Mask AC=2;AF=1.00;AN=2;DP=238;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7158;MQ=58.04;MQ0=0;QD=34.17;VQSLOD=5.9895;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,236:238:99:8107,635,0 11 18195051 18195051 T C exonic MRGPRX4 nonsynonymous SNV MRGPRX4:NM_054032:exon1:c.T248C:p.L83S 0.97 0.87 0.99 1. 1. 1. 0.9904 0.8978 0.9960 1 1 0.9993 0.9956 0.9999 0.97 0.9 1. 0.94 1. rs2445179 . . . . . . . . . . . . . 0.764 0.034 T 0.0 0.026 B 0.001 0.040 B 0.736 0.064 N 1 0.090 P -1.51 0.005 N 3.48 0.052 T 3.12 0.001 N 0.093 0.092 -1.036 0.186 T 0.000 0.000 T . . . -2.365 0.004 0.001 0.321 0.018 0.006 0.026 N c -1.937 -1.918 0.004 0.106 0.487 0.133 0 -1.84 0.073 -5.553 0.001 -0.862 0.028 0.000 0.063 0.000 0.016 4.089 0.094 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9926 0.8991 0.9951 0.9977 1 1 0.9995 0.9947 0.9998 0.9710 0.8993 0.9952 0.9967 1 1 0.9993 0.9959 hom 5774.45 176 11 18195051 . T C 5774.45 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5012;MQ=59.09;MQ0=0;QD=32.81;VQSLOD=7.8834;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5773,490,0 11 18195448 18195448 C T exonic MRGPRX4 synonymous SNV MRGPRX4:NM_054032:exon1:c.C645T:p.Y215Y 0.33 0.25 0.34 0.44 0.3 0.34 0.3008 0.2450 0.3396 0.4324 0.2346 0.2808 0.3042 0.3469 0.27 0.24 0.28 0.26 0.33 rs4630269 COSM1178420 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3040 0.2427 0.3416 0.2813 0.4316 0.2355 0.2857 0.2807 0.3498 0.2736 0.2426 0.3103 0.3113 0.4404 0.2453 0.2772 0.2796 hom 3043.52 94 11 18195448 . C T 3043.52 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6799;MQ=58.25;MQ0=0;QD=32.38;VQSLOD=7.8954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3077,253,0 11 18253176 18253176 C T exonic SAA2-SAA4;SAA4 nonsynonymous SNV SAA4:NM_006512:exon4:c.G266A:p.C89Y,SAA2-SAA4:NM_001199744:exon6:c.G500A:p.C167Y 0.88 0.7 0.96 0.89 0.97 0.96 0.9471 0.7350 0.9743 0.9020 0.9861 0.9734 0.9515 0.9630 0.9 0.75 0.97 0.79 0.98 rs2460827 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.355 0.007 N 2.05 0.207 T 0.57 0.026 N 0.021 0.005 -1.018 0.242 T 0.000 0.000 T . . . 0.103 0.104 3.642 0.603 0.063 0.003 0.017 N c -2.028 -2.070 0.999 0.373 0.554 0.283 0 -5.63 0.023 -1.929 0.016 -0.791 0.032 0.000 0.063 0.000 0.016 7.163 0.247 . . . 0.9523 0.7371 0.9721 0.9581 0.9003 0.9880 0.9737 0.9558 0.9611 0.9047 0.7355 0.9616 0.9536 0.8903 0.9851 0.9778 0.9613 hom 2539.13 86 11 18253176 . C T 2539.13 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.27;MQ0=0;QD=29.52;VQSLOD=8.5799;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2572,208,0 11 18267027 18267027 C T exonic SAA2 nonsynonymous SNV SAA2:NM_030754:exon4:c.G266A:p.R89H 0.77 0.61 0.78 0.93 0.89 0.7 0.8314 0.6527 0.7558 0.9345 0.9251 0.8720 0.8535 0.7398 0.8 0.68 0.86 0.61 0.86 rs2468844 . . . . . . . . . . . . . 0.524 0.071 T . . . . . . 0.602 0.109 N 1 0.090 P -0.495 0.026 N 2.88 0.103 T -0.1 0.085 N 0.012 0.002 -1.062 0.113 T 0.000 0.000 T . . . -0.506 0.055 0.212 0.745 0.104 0.023 0.066 N c -1.827 -2.067 1.000 0.747 0.601 0.348 0 -10.0 0.004 -3.929 0.004 -1.280 0.014 0.000 0.063 0.001 0.043 10.236 0.423 . . . 0.8354 0.6519 0.7703 0.8411 0.9403 0.9287 0.8709 0.8320 0.7414 0.8165 0.6447 0.7828 0.8411 0.9427 0.9293 0.8743 0.8656 hom 5078.18 167 11 18267027 . C T 5078.18 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5336;MQ=59.61;MQ0=0;QD=30.41;VQSLOD=7.5691;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:167:99:5077,403,0 11 18291321 18291321 T C exonic SAA1 synonymous SNV SAA1:NM_000331:exon4:c.T288C:p.A96A,SAA1:NM_199161:exon4:c.T288C:p.A96A,SAA1:NM_001178006:exon5:c.T288C:p.A96A 0.3 0.03 0.47 0.27 0.49 0.36 0.4135 0.1005 0.4245 0.3090 0.4349 0.4824 0.3579 0.3738 0.37 0.12 0.5 0.23 0.47 rs12218 COSM147155 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4181 0.0955 0.4288 0.3117 0.3010 0.4454 0.4943 0.4185 0.3707 0.3641 0.1024 0.4091 0.3367 0.3149 0.4428 0.4965 0.4407 het 2208.74 207 11 18291321 . T C 2208.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.105;DP=207;Dels=0.00;FS=3.194;HRun=1;HaplotypeScore=5.1111;MQ=58.95;MQ0=0;MQRankSum=1.007;QD=10.67;ReadPosRankSum=-0.421;VQSLOD=4.5153;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,99:207:99:2239,0,2938 11 18327684 18327684 G T exonic HPS5 synonymous SNV HPS5:NM_007216:exon6:c.C480A:p.L160L,HPS5:NM_181508:exon6:c.C480A:p.L160L,HPS5:NM_181507:exon7:c.C822A:p.L274L 0.8 0.79 0.75 0.97 0.71 0.79 0.7290 0.7631 0.8182 0.9748 0.7059 0.6789 0.6553 0.7317 0.71 0.77 0.69 0.84 0.7 rs1140047 . . Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150827.2|RCV000361523.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7312 0.7656 0.8140 0.5789 0.9761 0.7140 0.6843 0.6849 0.7257 0.7296 0.7627 0.7715 0.5861 0.9747 0.7175 0.6892 0.6976 het 727.92 95 11 18327684 . G T 727.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.343;DP=95;Dels=0.00;FS=8.076;HRun=1;HaplotypeScore=0.9958;MQ=56.96;MQ0=0;MQRankSum=0.316;QD=7.66;ReadPosRankSum=-0.548;VQSLOD=3.1371;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,30:95:99:758,0,1711 11 18422487 18422487 C A exonic LDHA synonymous SNV LDHA:NM_001165414:exon4:c.C435A:p.I145I,LDHA:NM_001165415:exon4:c.C348A:p.I116I,LDHA:NM_001165416:exon4:c.C348A:p.I116I,LDHA:NM_005566:exon4:c.C348A:p.I116I 0.097 0.047 0.15 0.065 0.15 0.1 0.1442 0.0658 0.1346 0.0718 0.1224 0.1678 0.1784 0.1499 0.14 0.076 0.17 0.076 0.17 rs6498 COSM3752270;COSM3752269;COSM3752268 1(large_intestine) Likely benign|Benign Glycogen_storage_disease_XI|not_specified RCV000301366.1|RCV000420324.1 MedGen:OMIM|MedGen C2752022:612933|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1458 0.0632 0.1329 0.1607 0.0717 0.1248 0.1719 0.1714 0.1537 0.1209 0.0604 0.1413 0.1490 0.0726 0.1256 0.1582 0.1260 het 1298.89 127 11 18422487 . C A 1298.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.362;DP=127;Dels=0.00;FS=0.669;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=0.051;QD=10.23;ReadPosRankSum=0.817;VQSLOD=5.7439;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,54:127:99:1329,0,1924 11 18467821 18467821 T C exonic LDHC synonymous SNV LDHC:NM_002301:exon7:c.T775C:p.L259L,LDHC:NM_017448:exon7:c.T775C:p.L259L 1. 1. 1. 1. 1. 1. 0.9997 0.9967 0.9997 1 1 1.0000 1 0.9999 1. 1. 1. 1. 1. rs2658565 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9970 0.9999 1 1 1 1.0000 0.9996 0.9999 0.9991 0.9968 1 1 1 1 1 1 hom 5292.80 177 11 18467821 . T C 5292.80 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4990;MQ=58.72;MQ0=0;QD=29.90;VQSLOD=8.1611;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5292,400,0 11 18555901 18555901 C G exonic UEVLD synonymous SNV UEVLD:NM_001261384:exon9:c.G834C:p.V278V,UEVLD:NM_001261382:exon10:c.G1158C:p.V386V,UEVLD:NM_001040697:exon11:c.G1224C:p.V408V 0.25 0.047 0.24 0.44 0.2 0.4 0.2174 0.0717 0.2967 0.4180 0.3049 0.1645 0.2292 0.3184 0.13 0.069 0.15 0.26 0.11 rs56151250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1984 0.0595 0.2351 0.1198 0.3759 0.2978 0.1527 0.1841 0.2946 0.1691 0.0662 0.2428 0.1433 0.3888 0.2952 0.1684 0.2312 het 783.46 57 11 18555901 . C G 783.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.088;DP=57;Dels=0.00;FS=2.619;HRun=1;HaplotypeScore=0.7887;MQ=59.60;MQ0=0;MQRankSum=1.269;QD=13.74;ReadPosRankSum=-0.263;VQSLOD=5.8688;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,28:57:99:813,0,714 11 18555949 18555949 T C exonic UEVLD synonymous SNV UEVLD:NM_001261384:exon9:c.A786G:p.L262L,UEVLD:NM_001261382:exon10:c.A1110G:p.L370L,UEVLD:NM_001040697:exon11:c.A1176G:p.L392L 0.25 0.047 0.24 0.44 0.2 0.4 0.2165 0.0699 0.2974 0.4207 0.3053 0.1636 0.2283 0.3178 0.13 0.069 0.16 0.26 0.14 rs55999230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2032 0.0586 0.2475 0.1244 0.3847 0.3003 0.1539 0.19 0.2914 0.1691 0.0662 0.2422 0.1424 0.3896 0.2951 0.1683 0.2312 het 1096.07 90 11 18555949 . T C 1096.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.148;DP=90;Dels=0.00;FS=1.711;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=0.000;QD=12.18;ReadPosRankSum=1.307;VQSLOD=6.1589;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,45:90:99:1126,0,1215 11 18633897 18633897 T C exonic SPTY2D1 nonsynonymous SNV SPTY2D1:NM_194285:exon4:c.A1850G:p.K617R 0.1 0.0091 0.06 0.22 0.097 0.14 0.0938 0.0183 0.0580 0.2291 0.1435 0.0843 0.0894 0.1139 0.062 0.021 0.083 0.087 0.13 rs35411689 COSM147159 1(stomach);1(large_intestine) . . . . . . . . . . . 0.052 0.390 T 0.465 0.346 P 0.166 0.334 B 0.000 0.843 N 0.001 0.472 P 1.44 0.361 L 0.84 0.475 T -1.97 0.456 N 0.054 0.036 -1.042 0.167 T 0.000 0.000 T . . . 3.543 0.483 23.1 0.996 0.710 0.897 0.500 D c -0.070 0.040 0.847 0.249 0.732 0.924 0 3.67 0.411 2.093 0.411 1.061 0.807 1.000 0.715 1.000 0.888 10.296 0.426 . ENSG00000179119.10 Lung 0.0949 0.0173 0.0603 0.035 0.2355 0.1488 0.0844 0.0909 0.1118 0.0862 0.0221 0.0573 0.0464 0.2351 0.1488 0.0935 0.1155 het 1384.62 126 11 18633897 . T C 1384.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.326;DP=126;Dels=0.00;FS=2.433;HRun=1;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=1.117;QD=10.99;ReadPosRankSum=-0.233;VQSLOD=6.2723;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,56:126:99:1415,0,1950 11 18633971 18633971 G A exonic SPTY2D1 synonymous SNV SPTY2D1:NM_194285:exon4:c.C1776T:p.D592D 0.31 0.079 0.45 0.35 0.42 0.36 0.4153 0.1315 0.4515 0.3733 0.4184 0.4607 0.4249 0.4053 0.35 0.14 0.46 0.2 0.46 rs11605097 COSM5432861 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4196 0.1281 0.4485 0.46 0.3737 0.4169 0.4582 0.4272 0.4068 0.3570 0.1287 0.4653 0.4636 0.3928 0.4209 0.4583 0.4286 het 1673.99 114 11 18633971 . G A 1673.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.311;DP=114;Dels=0.00;FS=6.221;HRun=0;HaplotypeScore=1.7825;MQ=59.80;MQ0=0;MQRankSum=-0.288;QD=14.68;ReadPosRankSum=0.837;VQSLOD=5.3678;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,64:114:99:1704,0,1267 11 18735947 18735947 T C exonic IGSF22 nonsynonymous SNV IGSF22:NM_173588:exon13:c.A1675G:p.M559V 0.76 0.85 0.71 0.81 0.78 0.58 0.7413 0.8144 0.6482 0.8187 0.8199 0.7573 0.7233 0.6280 0.77 0.82 0.75 0.69 0.66 rs7125943 COSM4998295;COSM4998296 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.446 0.126 N 1 0.090 P . . . 1.17 0.379 T 2.42 0.003 N 0.011 0.002 -1.012 0.262 T 0.000 0.000 T . . . -2.487 0.003 0.001 0.663 0.078 0.009 0.034 N c -1.676 -1.619 0.000 0.058 0.497 0.185 0 -2.12 0.067 -0.075 0.113 -0.896 0.027 0.002 0.151 0.018 0.130 11.140 0.474 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.7381 0.8148 0.6625 0.6858 0.8208 0.8228 0.7563 0.7320 0.6266 0.7866 0.8253 0.6902 0.7020 0.8043 0.8312 0.7612 0.7505 hom 6790.36 225 11 18735947 . T C 6790.36 Mask AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7682;MQ=59.47;MQ0=0;QD=30.18;VQSLOD=6.6169;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:6789,545,0 11 18737095 18737095 C T exonic IGSF22 nonsynonymous SNV IGSF22:NM_173588:exon11:c.G1415A:p.R472Q 0.75 0.83 0.7 0.81 0.77 0.58 0.7349 0.7939 0.6443 0.8183 0.8083 0.7514 0.7185 0.6232 0.76 0.79 0.74 0.7 0.66 rs4424652 . . . . . . . . . . . . . 0.278 0.156 T 0.469 0.347 P 0.035 0.214 B 0.006 0.326 N 1.000 0.210 P . . . -0.27 0.674 T -1.18 0.301 N 0.06 0.080 -0.986 0.336 T 0.000 0.000 T . . . 3.068 0.429 22.4 0.926 0.214 0.614 0.312 D c -0.337 -0.272 0.001 0.079 0.516 0.203 0 2.53 0.295 1.579 0.359 0.077 0.185 0.937 0.323 0.350 0.246 5.014 0.136 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.7316 0.7939 0.6574 0.6849 0.8207 0.8116 0.7500 0.7277 0.6229 0.7784 0.8095 0.6850 0.7020 0.8051 0.8207 0.7564 0.7469 hom 6559.41 194 11 18737095 . C T 6559.41 Mask AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5323;MQ=58.90;MQ0=0;QD=33.81;VQSLOD=9.2077;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,193:194:99:6559,518,0 11 18738281 18738281 C T exonic IGSF22 nonsynonymous SNV IGSF22:NM_173588:exon10:c.G1240A:p.V414I 0.75 0.83 0.7 0.81 0.77 0.58 0.7349 0.7941 0.6447 0.8187 0.8078 0.7518 0.7167 0.6229 0.76 0.8 0.74 0.7 0.66 rs10766494 . . . . . . . . . . . . . 0.893 0.025 T 0.0 0.026 B 0.001 0.040 B 0.047 0.233 N 1 0.090 P . . . 0.0 0.626 T 0.05 0.064 N 0.008 0.031 -1.007 0.278 T 0.000 0.000 T . . . 0.978 0.188 10.54 0.745 0.104 0.038 0.090 N c -0.395 -0.312 0.000 0.058 0.549 0.223 0 3.75 0.421 1.690 0.371 -0.297 0.082 0.989 0.365 0.383 0.251 7.752 0.279 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.7318 0.7944 0.6580 0.6859 0.8208 0.8117 0.7503 0.7275 0.6220 0.7785 0.8100 0.6862 0.7 0.8032 0.8206 0.7563 0.7485 hom 5573.92 177 11 18738281 . C T 5573.92 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.1623;MQ=59.35;MQ0=0;QD=31.49;VQSLOD=9.0693;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5573,457,0 11 18743180 18743180 C G exonic IGSF22 nonsynonymous SNV IGSF22:NM_173588:exon4:c.G280C:p.A94P 0.36 0.17 0.52 0.32 0.39 0.51 0.4102 0.2248 0.6051 0.3197 0.3805 0.3984 0.4022 0.4907 0.34 0.22 0.39 0.34 0.45 rs10832975 COSM428799;COSM428800 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.092 0.203 N 1.000 0.191 P . . . 0.37 0.577 T 2.87 0.002 N 0.076 0.112 -0.895 0.485 T 0.000 0.000 T . . . 2.017 0.303 16.32 0.844 0.147 0.026 0.070 N c -0.890 -0.545 1.000 0.747 0.437 0.062 0 4.39 0.520 5.570 0.669 0.127 0.214 1.000 0.715 0.973 0.468 13.175 0.589 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.4208 0.2236 0.5861 0.3889 0.3162 0.3940 0.4038 0.4066 0.4909 0.3540 0.2111 0.5406 0.3576 0.3191 0.3964 0.4168 0.4098 het 1964.96 204 11 18743180 . C G 1964.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.973;DP=204;DS;Dels=0.00;FS=2.526;HRun=2;HaplotypeScore=1.8583;MQ=59.70;MQ0=0;MQRankSum=0.325;QD=9.63;ReadPosRankSum=1.122;VQSLOD=6.0615;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,76:204:99:1995,0,3339 11 18751041 18751041 C T exonic PTPN5 synonymous SNV PTPN5:NM_001278238:exon13:c.G1491A:p.V497V,PTPN5:NM_001278239:exon13:c.G1395A:p.V465V,PTPN5:NM_001039970:exon14:c.G1467A:p.V489V,PTPN5:NM_001278236:exon14:c.G1467A:p.V489V,PTPN5:NM_006906:exon14:c.G1563A:p.V521V,PTPN5:NM_032781:exon14:c.G1563A:p.V521V 0.32 0.32 0.31 0.26 0.44 0.25 0.3992 0.3245 0.2197 0.2781 0.5349 0.4689 0.4289 0.3007 0.41 0.32 0.46 0.32 0.39 rs1550870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3901 0.3192 0.2379 0.3484 0.2866 0.5247 0.4695 0.3962 0.2972 0.4298 0.3281 0.2733 0.3808 0.2929 0.5201 0.4902 0.4642 hom 1253.44 38 11 18751041 . C T 1253.44 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.51;MQ0=0;QD=32.99;VQSLOD=9.7032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1286,102,0 11 18955744 18955744 C T exonic MRGPRX1 synonymous SNV MRGPRX1:NM_147199:exon1:c.G588A:p.L196L 0.3 0.28 0.27 0.39 0.22 0.32 0.2565 0.2789 0.3582 0.3578 0.2153 0.2214 0.2533 0.2783 0.24 0.28 0.22 0.28 0.24 rs11599929 COSM147160 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2578 0.2727 0.3456 0.2458 0.3640 0.2111 0.2179 0.2524 0.2784 0.2411 0.2757 0.3453 0.2669 0.3766 0.2125 0.2086 0.2146 het 1133.80 126 11 18955744 . C T 1133.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.250;DP=126;Dels=0.00;FS=5.745;HRun=0;HaplotypeScore=3.8709;MQ=58.62;MQ0=0;MQRankSum=0.811;QD=9.00;ReadPosRankSum=-0.504;VQSLOD=4.0379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,46:126:99:1164,0,2488 11 19167850 19167850 A G exonic ZDHHC13 nonsynonymous SNV ZDHHC13:NM_019028:exon3:c.A296G:p.K99R 0.61 0.33 0.78 0.73 0.7 0.65 0.6920 0.3861 0.8532 0.7246 0.6393 0.7137 0.6953 0.6766 0.62 0.41 0.72 0.53 . rs2271001 COSM5001953 1(breast);1(pancreas);1(skin) . . . . . . . . . . . 0.299 0.145 T 0.023 0.176 B 0.066 0.260 B 0.000 0.843 N 0.000 0.810 P 0.905 0.233 L -0.25 0.670 T -0.97 0.258 N 0.078 0.069 -0.967 0.379 T 0.000 0.000 T . . . 1.879 0.287 15.46 0.991 0.522 0.966 0.697 D c -0.294 -0.096 0.663 0.223 0.732 0.924 0 4.23 0.492 4.391 0.592 1.140 0.893 1.000 0.715 1.000 0.888 9.944 0.406 Ankyrin repeat-containing domain ENSG00000177054.9|ENSG00000177054.9 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.6988 0.3742 0.8375 0.7466 0.7329 0.6294 0.7130 0.6988 0.6761 0.6084 0.3759 0.7926 0.7583 0.7481 0.6318 0.7057 0.6704 hom 1261.80 39 11 19167850 . A G 1261.80 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.35;VQSLOD=14.1518;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1295,99,0 11 19251826 19251826 G A exonic E2F8 synonymous SNV E2F8:NM_001256371:exon9:c.C1320T:p.L440L,E2F8:NM_001256372:exon9:c.C1320T:p.L440L,E2F8:NM_024680:exon9:c.C1320T:p.L440L 0.1 0.11 0.052 0.17 0.091 0.072 0.0945 0.1284 0.0447 0.1589 0.0685 0.0979 0.0760 0.0718 0.11 0.13 0.096 0.13 0.17 rs11821023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0912 0.1308 0.0447 0.1107 0.1559 0.0720 0.0978 0.0828 0.0710 0.1066 0.1208 0.0610 0.0960 0.1580 0.0704 0.1047 0.0980 hom 3937.36 132 11 19251826 . G A 3937.36 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9993;MQ=59.15;MQ0=0;QD=29.83;VQSLOD=9.0744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:3937,301,0 11 19854088 19854088 G A exonic NAV2 nonsynonymous SNV NAV2:NM_001111018:exon2:c.G134A:p.R45K,NAV2:NM_001244963:exon2:c.G326A:p.R109K,NAV2:NM_145117:exon2:c.G326A:p.R109K,NAV2:NM_182964:exon2:c.G326A:p.R109K 0.41 0.67 0.38 0.35 0.34 0.19 0.3476 0.6470 0.3811 0.4129 0.3104 0.3250 0.3348 0.2084 0.43 0.66 0.32 0.41 0.34 rs6483617 COSM4415172;COSM3752288 1(breast);2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.505 0.005 N 0.43 0.568 T 1.21 0.011 N 0.053 0.236 -0.956 0.400 T 0.000 0.000 T . . . 1.466 0.239 13.13 0.721 0.095 0.339 0.247 N c -0.483 -0.181 1.000 0.747 0.732 0.924 0 5.83 0.930 6.375 0.729 0.244 0.267 1.000 0.715 1.000 0.888 11.722 0.508 Calponin homology domain . . 0.3458 0.6528 0.3864 0.3799 0.4114 0.3030 0.3249 0.3411 0.2092 0.4182 0.6524 0.4069 0.4067 0.4355 0.3076 0.3138 0.3088 het 4299.12 250 11 19854088 . G A 4299.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.082;DP=250;DS;Dels=0.00;FS=1.570;HRun=1;HaplotypeScore=4.5942;MQ=58.99;MQ0=0;MQRankSum=1.965;QD=17.20;ReadPosRankSum=0.414;VQSLOD=4.9200;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,125:250:99:3590,0,3650 11 19901632 19901632 G A exonic NAV2 synonymous SNV NAV2:NM_001111018:exon5:c.G537A:p.A179A,NAV2:NM_001244963:exon5:c.G729A:p.A243A,NAV2:NM_145117:exon5:c.G729A:p.A243A,NAV2:NM_182964:exon5:c.G729A:p.A243A 0.31 0.17 0.32 0.33 0.49 0.3 0.4017 0.1883 0.2336 0.3421 0.5521 0.4621 0.4365 0.3743 0.35 0.18 0.44 0.27 0.35 rs11025310 COSM3931291;COSM5618770 1(breast);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3923 0.1753 0.2401 0.3670 0.3265 0.5504 0.4611 0.4041 0.3484 0.3796 0.1782 0.2620 0.4338 0.2976 0.5619 0.4640 0.4481 het 515.90 47 11 19901632 . G A 515.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.406;DP=47;Dels=0.00;FS=2.493;HRun=0;HaplotypeScore=0.9469;MQ=58.57;MQ0=0;MQRankSum=1.340;QD=10.98;ReadPosRankSum=-0.132;VQSLOD=5.7954;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,23:47:99:546,0,596 11 19955500 19955500 A G exonic NAV2 synonymous SNV NAV2:NM_001111018:exon7:c.A1518G:p.K506K,NAV2:NM_145117:exon7:c.A1710G:p.K570K,NAV2:NM_182964:exon7:c.A1710G:p.K570K,NAV2:NM_001244963:exon8:c.A1779G:p.K593K 0.73 0.65 0.79 0.64 0.91 0.73 0.8245 0.6699 0.6961 0.6319 0.8119 0.9161 0.8242 0.7394 0.84 0.68 0.92 0.81 0.8 rs1372989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8185 0.6635 0.7020 0.8942 0.6304 0.8084 0.9201 0.8452 0.7393 0.8149 0.6761 0.7482 0.9040 0.6410 0.8119 0.9141 0.8573 hom 2470.41 79 11 19955500 . A G 2470.41 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.27;VQSLOD=14.1233;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2503,199,0 11 19970558 19970558 T C exonic NAV2 synonymous SNV NAV2:NM_001111018:exon10:c.T2385C:p.D795D,NAV2:NM_145117:exon10:c.T2577C:p.D859D,NAV2:NM_182964:exon10:c.T2577C:p.D859D,NAV2:NM_001244963:exon11:c.T2646C:p.D882D 0.96 0.87 0.99 1. 1. 1. 0.9906 0.8985 0.9957 1 1 0.9997 0.9956 0.9996 0.97 0.9 1. 0.97 1. rs2585773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9928 0.8988 0.9955 1 1 1 0.9997 0.9965 0.9994 0.9724 0.9033 0.9952 1 1 1 0.9999 0.9959 hom 5327.59 181 11 19970558 . T C 5327.59 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=59.62;MQ0=0;QD=29.43;VQSLOD=8.6260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5326,469,0 11 19970579 19970579 C T exonic NAV2 synonymous SNV NAV2:NM_001111018:exon10:c.C2406T:p.D802D,NAV2:NM_145117:exon10:c.C2598T:p.D866D,NAV2:NM_182964:exon10:c.C2598T:p.D866D,NAV2:NM_001244963:exon11:c.C2667T:p.D889D 0.94 0.8 0.98 1. 1. 1. 0.9846 0.8316 0.9929 1 1 0.9996 0.9956 0.9994 0.95 0.84 1. 0.91 0.85 rs2707084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9880 0.8318 0.9921 1 1 1 0.9996 0.9930 0.9994 0.9529 0.8354 0.9940 1 1 1 0.9993 0.9929 hom 5019.02 156 11 19970579 . C T 5019.02 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.41;MQ0=0;QD=32.17;VQSLOD=9.9241;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:5018,397,0 11 20065673 20065673 G T exonic NAV2 nonsynonymous SNV NAV2:NM_001111019:exon4:c.G312T:p.E104D,NAV2:NM_001111018:exon13:c.G2862T:p.E954D,NAV2:NM_145117:exon13:c.G3054T:p.E1018D,NAV2:NM_182964:exon13:c.G3054T:p.E1018D,NAV2:NM_001244963:exon14:c.G3123T:p.E1041D 0.27 0.024 0.27 0.45 0.22 0.47 0.2505 0.0496 0.3431 0.4538 0.3403 0.1817 0.2919 0.4453 0.15 0.054 0.2 0.18 0.13 rs3802799 COSM3752289;COSM5617742 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.778 0.040 T 0.999 0.764 D 0.99 0.797 D 0.000 0.629 D 0.000 0.588 P 1.04 0.263 L 1.68 0.272 T -0.27 0.119 N 0.343 0.646 -0.921 0.455 T 0.000 0.000 T . . . 3.936 0.530 23.5 0.992 0.557 0.962 0.677 D c 0.219 0.250 0.999 0.394 0.707 0.730 0 4.5 0.542 2.730 0.468 1.048 0.713 1.000 0.715 0.844 0.352 10.797 0.455 Calponin homology domain . . 0.2618 0.0467 0.3365 0.1590 0.4498 0.3381 0.1852 0.2275 0.4436 0.1915 0.0498 0.3273 0.1788 0.4348 0.3361 0.2031 0.2485 het 1708.90 160 11 20065673 . G T 1708.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.696;DP=160;Dels=0.00;FS=2.011;HRun=1;HaplotypeScore=2.5279;MQ=59.07;MQ0=0;MQRankSum=2.536;QD=10.68;ReadPosRankSum=0.608;VQSLOD=5.7000;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,68:160:99:1739,0,2506 11 20065779 20065779 C G exonic NAV2 nonsynonymous SNV NAV2:NM_001111019:exon4:c.C418G:p.P140A,NAV2:NM_001111018:exon13:c.C2968G:p.P990A,NAV2:NM_145117:exon13:c.C3160G:p.P1054A,NAV2:NM_182964:exon13:c.C3160G:p.P1054A,NAV2:NM_001244963:exon14:c.C3229G:p.P1077A 0.88 0.67 0.89 0.95 0.99 0.99 0.9509 0.6983 0.9116 0.9384 0.9974 0.9834 0.9669 0.9929 0.89 0.71 0.98 0.78 0.92 rs3802800 . . . . . . . . . . . . . 0.374 0.237 T 0.0 0.139 B 0.001 0.112 B 0.088 0.205 N 0.485 0.328 P 0.345 0.112 N 1.68 0.272 T 0.08 0.060 N 0.022 0.231 -0.990 0.325 T 0.000 0.000 T . . . 1.684 0.263 14.32 0.850 0.151 0.962 0.675 D c -0.395 -0.252 0.825 0.246 0.707 0.730 0 2.17 0.266 0.999 0.292 0.038 0.153 0.997 0.399 0.360 0.248 11.574 0.499 Calponin homology domain . . 0.9535 0.6891 0.9136 0.9789 0.9313 0.9977 0.9831 0.9596 0.9926 0.8980 0.6884 0.9224 0.9669 0.9265 0.9986 0.9855 0.9695 hom 2527 76 11 20065779 . C G 2527 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=33.25;VQSLOD=9.3057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2560,202,0 11 20067064 20067064 C T exonic NAV2 synonymous SNV NAV2:NM_001111019:exon5:c.C1008T:p.D336D,NAV2:NM_001111018:exon14:c.C3558T:p.D1186D,NAV2:NM_145117:exon14:c.C3750T:p.D1250D,NAV2:NM_182964:exon14:c.C3750T:p.D1250D,NAV2:NM_001244963:exon15:c.C3819T:p.D1273D 0.66 0.6 0.66 0.83 0.54 0.7 0.6118 0.6086 0.7336 0.8575 0.6138 0.5385 0.6269 0.6942 0.57 0.61 0.54 0.66 0.52 rs7125647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6182 0.6039 0.7259 0.5470 0.8601 0.6108 0.5390 0.5926 0.6917 0.6002 0.6131 0.6754 0.5861 0.8806 0.6166 0.5547 0.6002 het 1362.90 121 11 20067064 . C T 1362.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.155;DP=121;Dels=0.00;FS=3.428;HRun=0;HaplotypeScore=0.9979;MQ=59.81;MQ0=0;MQRankSum=0.461;QD=11.26;ReadPosRankSum=-0.404;VQSLOD=6.5966;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,54:121:99:1393,0,1925 11 20099112 20099112 A T exonic NAV2 synonymous SNV NAV2:NM_001111019:exon13:c.A2190T:p.A730A,NAV2:NM_001111018:exon23:c.A4806T:p.A1602A,NAV2:NM_145117:exon23:c.A4998T:p.A1666A,NAV2:NM_182964:exon23:c.A4998T:p.A1666A,NAV2:NM_001244963:exon25:c.A5166T:p.A1722A 0.91 0.88 0.9 0.95 0.89 0.93 0.8957 0.8683 0.9393 0.9560 0.9082 0.8754 0.9086 0.9269 0.87 0.87 0.88 0.92 0.82 rs4757028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8981 0.8680 0.9385 0.7752 0.9544 0.9115 0.8817 0.8897 0.9281 0.8925 0.8719 0.9224 0.8113 0.9593 0.9057 0.8939 0.8961 hom 5308.99 168 11 20099112 . A T 5308.99 Mask AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7750;MQ=59.74;MQ0=0;QD=31.60;VQSLOD=9.1318;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,168:168:99:5309,403,0 11 20099541 20099541 C T exonic NAV2 synonymous SNV NAV2:NM_001111019:exon14:c.C2262T:p.D754D,NAV2:NM_001111018:exon24:c.C4878T:p.D1626D,NAV2:NM_145117:exon24:c.C5070T:p.D1690D,NAV2:NM_182964:exon24:c.C5070T:p.D1690D,NAV2:NM_001244963:exon26:c.C5238T:p.D1746D 0.91 0.88 0.89 0.96 0.89 0.92 0.8903 0.8710 0.9359 0.9533 0.9461 0.8653 0.9018 0.9154 0.87 0.87 0.86 0.95 0.67 rs6483642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8936 0.8718 0.9351 0.7550 0.9512 0.9438 0.8713 0.8838 0.9171 0.8946 0.8710 0.9246 0.7748 0.9390 0.9385 0.8933 0.9053 hom 1462.98 48 11 20099541 . C T 1462.98 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=30.48;VQSLOD=8.9864;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1496,117,0 11 20101704 20101704 C T exonic NAV2 synonymous SNV NAV2:NM_001111019:exon15:c.C2466T:p.S822S,NAV2:NM_001111018:exon25:c.C5082T:p.S1694S,NAV2:NM_145117:exon25:c.C5274T:p.S1758S,NAV2:NM_182964:exon25:c.C5274T:p.S1758S,NAV2:NM_001244963:exon27:c.C5442T:p.S1814S 0.91 0.89 0.88 0.96 0.88 0.93 0.8881 0.8698 0.9309 0.9512 0.9453 0.8617 0.8980 0.9198 0.86 0.87 0.86 0.95 0.81 rs1867114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8911 0.8700 0.9305 0.7518 0.9497 0.9432 0.8674 0.8778 0.9200 0.8920 0.8680 0.9177 0.78 0.9358 0.9379 0.8907 0.9012 hom 3026.41 99 11 20101704 . C T 3026.41 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.14;MQ0=0;QD=30.57;VQSLOD=8.3990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3059,247,0 11 20101744 20101744 C A exonic NAV2 synonymous SNV NAV2:NM_001111019:exon15:c.C2506A:p.R836R,NAV2:NM_001111018:exon25:c.C5122A:p.R1708R,NAV2:NM_145117:exon25:c.C5314A:p.R1772R,NAV2:NM_182964:exon25:c.C5314A:p.R1772R,NAV2:NM_001244963:exon27:c.C5482A:p.R1828R 0.93 0.96 0.89 0.96 0.88 0.95 0.8970 0.9413 0.9330 0.9525 0.9451 0.8616 0.9031 0.9380 0.89 0.94 0.86 0.96 0.79 rs1867115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8975 0.9409 0.9321 0.7515 0.9503 0.9431 0.8668 0.8785 0.9368 0.9132 0.9404 0.9221 0.78 0.9376 0.9376 0.8915 0.9092 hom 2292.91 72 11 20101744 . C A 2292.91 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.38;MQ0=0;QD=31.85;VQSLOD=8.9561;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2326,181,0 11 20104669 20104669 G A exonic NAV2 synonymous SNV NAV2:NM_001111019:exon16:c.G2634A:p.P878P,NAV2:NM_001111018:exon26:c.G5250A:p.P1750P,NAV2:NM_145117:exon26:c.G5442A:p.P1814P,NAV2:NM_182964:exon26:c.G5451A:p.P1817P,NAV2:NM_001244963:exon28:c.G5619A:p.P1873P 0.44 0.23 0.43 0.31 0.58 0.72 0.5281 0.2661 0.4159 0.2823 0.6413 0.5596 0.5903 0.7244 0.46 0.28 0.56 0.3 0.53 rs2028570 COSM4415385;COSM4415386 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5291 0.2627 0.4206 0.4789 0.2762 0.6475 0.5651 0.5376 0.7204 0.4742 0.2761 0.4411 0.4603 0.2668 0.6409 0.5721 0.5164 het 2119.36 161 11 20104669 . G A 2119.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.409;DP=161;Dels=0.00;FS=2.021;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=1.790;QD=13.16;ReadPosRankSum=0.228;VQSLOD=6.3011;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,81:161:99:2149,0,1950 11 20112417 20112417 A C exonic NAV2 synonymous SNV NAV2:NM_001111019:exon17:c.A2697C:p.S899S,NAV2:NM_001111018:exon27:c.A5313C:p.S1771S,NAV2:NM_145117:exon27:c.A5505C:p.S1835S,NAV2:NM_182964:exon27:c.A5514C:p.S1838S,NAV2:NM_001244963:exon29:c.A5682C:p.S1894S 0.41 0.46 0.45 0.63 0.31 0.17 0.3496 0.4244 0.5006 0.6565 0.3371 0.3211 0.2878 0.1590 0.35 0.41 0.32 0.53 0.3 rs2243624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3525 0.4241 0.4930 0.2837 0.6562 0.3222 0.3184 0.3350 0.1639 0.3744 0.4289 0.4451 0.3245 0.6471 0.3255 0.3219 0.3719 het 1355.37 100 11 20112417 . A C 1355.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.356;DP=100;Dels=0.00;FS=1.695;HRun=1;HaplotypeScore=1.8947;MQ=59.09;MQ0=0;MQRankSum=0.555;QD=13.55;ReadPosRankSum=-0.273;VQSLOD=6.8031;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,52:100:99:1385,0,1291 11 20112492 20112492 G A exonic NAV2 synonymous SNV NAV2:NM_001111019:exon17:c.G2772A:p.T924T,NAV2:NM_001111018:exon27:c.G5388A:p.T1796T,NAV2:NM_145117:exon27:c.G5580A:p.T1860T,NAV2:NM_182964:exon27:c.G5589A:p.T1863T,NAV2:NM_001244963:exon29:c.G5757A:p.T1919T 0.5 0.48 0.42 0.33 0.51 0.74 0.5095 0.4936 0.4145 0.2982 0.5731 0.4903 0.5662 0.7452 0.49 0.5 0.49 0.43 0.47 rs1837971 COSM3998368 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5076 0.4939 0.4170 0.4203 0.2949 0.5841 0.4982 0.5020 0.7397 0.4972 0.4890 0.4484 0.4007 0.2867 0.5757 0.5124 0.4775 het 1509.79 122 11 20112492 . G A 1509.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.433;DP=122;Dels=0.00;FS=1.478;HRun=0;HaplotypeScore=1.8279;MQ=58.81;MQ0=0;MQRankSum=0.970;QD=12.38;ReadPosRankSum=0.174;VQSLOD=6.6276;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,57:122:99:1540,0,1586 11 20117232 20117232 T C exonic NAV2 synonymous SNV NAV2:NM_001111019:exon20:c.T3123C:p.H1041H,NAV2:NM_001111018:exon30:c.T5739C:p.H1913H,NAV2:NM_145117:exon30:c.T5931C:p.H1977H,NAV2:NM_182964:exon30:c.T5940C:p.H1980H,NAV2:NM_001244963:exon32:c.T6108C:p.H2036H 0.45 0.22 0.44 0.89 0.3 0.48 0.3778 0.2240 0.5787 0.9054 0.3566 0.2758 0.3767 0.4777 0.26 0.22 0.28 0.47 0.21 rs2289566 COSM5826951;COSM3752290 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3863 0.2163 0.5622 0.2002 0.9057 0.3609 0.2759 0.3413 0.4746 0.3128 0.2195 0.5192 0.2267 0.8928 0.3617 0.2812 0.3459 het 2990.20 250 11 20117232 . T C 2990.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.488;DP=250;DS;Dels=0.00;FS=5.049;HRun=1;HaplotypeScore=6.2342;MQ=58.97;MQ0=0;MQRankSum=1.388;QD=11.96;ReadPosRankSum=-0.482;VQSLOD=4.4988;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:3020,0,3653 11 20124914 20124914 A C exonic NAV2 synonymous SNV NAV2:NM_001111019:exon23:c.A3723C:p.G1241G,NAV2:NM_001111018:exon33:c.A6339C:p.G2113G,NAV2:NM_145117:exon33:c.A6531C:p.G2177G,NAV2:NM_182964:exon33:c.A6540C:p.G2180G,NAV2:NM_001244963:exon35:c.A6708C:p.G2236G 0.92 0.78 0.97 0.96 0.99 0.95 0.9679 0.8160 0.9845 0.9452 0.9985 0.9903 0.9659 0.9615 0.93 0.82 0.99 0.89 1. rs2243411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9720 0.8126 0.9836 0.9797 0.9458 0.9991 0.9907 0.9765 0.9627 0.9413 0.8190 0.9713 0.9967 0.9438 0.9994 0.9929 0.9857 hom 7123.48 244 11 20124914 . A C 7123.48 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7336;MQ=59.13;MQ0=0;QD=29.19;VQSLOD=7.6080;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,243:244:99:7122,590,0 11 20404613 20404613 T G exonic HTATIP2 nonsynonymous SNV HTATIP2:NM_001098522:exon5:c.T591G:p.S197R,HTATIP2:NM_001098520:exon6:c.T693G:p.S231R,HTATIP2:NM_001098521:exon6:c.T591G:p.S197R,HTATIP2:NM_006410:exon6:c.T591G:p.S197R 0.71 0.59 0.72 0.47 0.94 0.89 0.8574 0.6407 0.6557 0.4978 0.9534 0.9514 0.8822 0.9000 0.85 0.64 0.95 0.65 0.92 rs3824886 . . . . . . . . . . . . . 0.258 0.195 T 0.001 0.102 B 0.001 0.080 B 0.006 0.322 N 1.000 0.192 P -0.195 0.042 N 1.59 0.288 T -0.48 0.193 N 0.037 0.120 -1.006 0.283 T 0.000 0.000 T . . . -0.445 0.059 0.300 0.984 0.410 0.101 0.155 N c -1.271 -1.293 0.917 0.265 0.706 0.609 0 -5.58 0.023 -0.028 0.122 1.061 0.807 0.004 0.165 0.984 0.507 3.801 0.082 NAD(P)-binding domain ENSG00000185238.8 Muscle_Skeletal 0.8537 0.6333 0.6685 0.9596 0.4972 0.9553 0.9497 0.8882 0.9014 0.8341 0.6427 0.6823 0.95 0.5025 0.9531 0.9541 0.9126 het 546.56 54 11 20404613 . T G 546.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.881;DP=54;Dels=0.00;FS=3.991;HRun=3;HaplotypeScore=0.0000;MQ=58.36;MQ0=0;MQRankSum=-0.706;QD=10.12;ReadPosRankSum=-1.184;VQSLOD=4.5756;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,20:54:99:577,0,909 11 20529886 20529886 G A exonic PRMT3 nonsynonymous SNV PRMT3:NM_001145166:exon14:c.G1337A:p.S446N,PRMT3:NM_001145167:exon15:c.G1292A:p.S431N,PRMT3:NM_005788:exon16:c.G1523A:p.S508N 0.99 1. 1. 0.96 1. 1. 0.9967 0.9995 0.9999 0.9556 1 1.0000 0.9978 0.9998 1. 1. 1. 0.98 0.98 rs6483700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9969 0.9998 1.0000 1 0.9567 1 1.0000 0.9991 0.9998 0.9972 0.9993 1 1 0.9525 1 0.9999 0.9980 hom 4916.34 169 11 20529886 . G A 4916.34 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.712;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.9736;MQ=59.01;MQ0=0;MQRankSum=1.712;QD=29.09;ReadPosRankSum=1.138;VQSLOD=6.6638;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,168:169:99:4886,344,0 11 20622975 20622975 G A exonic SLC6A5 nonsynonymous SNV SLC6A5:NM_004211:exon2:c.G304A:p.G102S 0.41 0.45 0.38 0.37 0.38 0.43 0.4067 0.5 0.4322 0.4270 0.3216 0.3769 0.4257 0.4584 0.37 0.44 0.34 0.35 0.18 rs1443547 COSM3752291 2(thyroid);5(large_intestine) Benign Hyperekplexia RCV000354866.1 MedGen C0234166 . . . . . . 0.723 0.039 T 0.0 0.026 B 0.001 0.040 B 0.142 0.029 N 1 0.090 P -0.69 0.019 N -0.5 0.705 T 0.26 0.044 N 0.006 0.009 -1.052 0.139 T 0.000 0.000 T . . . -0.629 0.048 0.106 0.856 0.155 0.062 0.121 N c -1.430 -1.428 0.932 0.270 0.623 0.393 0 -3.96 0.038 -2.241 0.013 -0.245 0.091 0.000 0.063 0.001 0.043 6.889 0.232 . . . 0.3688 0.4710 0.3833 0.4229 0.3936 0.2670 0.3415 0.3700 0.4374 0.3691 0.4632 0.3337 0.3841 0.4007 0.2724 0.3386 0.3179 het 325.91 15 11 20622975 . G A 325.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.713;DP=15;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.467;QD=21.73;ReadPosRankSum=0.156;VQSLOD=13.1460;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,12:15:75.69:356,0,76 11 20623007 20623007 C T exonic SLC6A5 synonymous SNV SLC6A5:NM_004211:exon2:c.C336T:p.S112S 0.19 0.25 0.16 0.005 0.29 0.22 0.2624 0.2739 0.1323 0.0030 0.3470 0.3091 0.2328 0.2446 0.27 0.25 0.27 0.098 0.14 rs7109418 COSM3765557 1(liver) Benign Hyperekplexia RCV000404538.1 MedGen C0234166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2318 0.2442 0.1232 0.2332 0.0017 0.3026 0.2865 0.2412 0.2301 0.2524 0.2385 0.1420 0.2384 0.0049 0.2951 0.2817 0.2848 het 196.66 23 11 20623007 . C T 196.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.678;DP=23;Dels=0.00;FS=5.902;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=1.711;QD=8.55;ReadPosRankSum=-0.032;VQSLOD=3.9821;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,8:23:99:227,0,436 11 20623023 20623023 C T exonic SLC6A5 synonymous SNV SLC6A5:NM_004211:exon2:c.C352T:p.L118L 0.33 0.33 0.32 0.36 0.35 0.27 0.3503 0.3392 0.3612 0.3826 0.4111 0.3566 0.3308 0.2902 0.32 0.32 0.33 0.25 0.22 rs2241941 COSM3765558 1(haematopoietic_and_lymphoid_tissue);2(liver);1(thyroid) Benign Hyperekplexia RCV000265297.1 MedGen C0234166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3318 0.3095 0.3373 0.3282 0.3547 0.3762 0.3372 0.3260 0.2761 0.3308 0.3058 0.3640 0.3411 0.3300 0.3718 0.3325 0.3493 het 218.24 26 11 20623023 . C T 218.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.832;DP=26;Dels=0.00;FS=5.849;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.377;QD=8.39;ReadPosRankSum=1.132;VQSLOD=4.6742;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,9:26:99:248,0,440 11 20623042 20623042 T C exonic SLC6A5 nonsynonymous SNV SLC6A5:NM_004211:exon2:c.T371C:p.F124S 0.79 0.87 0.74 0.75 0.79 0.77 0.7789 0.8781 0.7547 0.7664 0.7530 0.7676 0.7998 0.7938 0.8 0.87 0.75 0.76 0.57 rs1443548 . . Benign Hyperekplexia RCV000365666.1 MedGen C0234166 . . . . . . 0.44 0.092 T 0.0 0.026 B 0.0 0.013 B 0.615 0.108 N 1.000 0.191 P 0 0.065 N -0.48 0.703 T 0.72 0.021 N 0.027 0.052 -0.983 0.343 T 0.000 0.000 T . . . 0.592 0.151 8.102 0.910 0.197 0.067 0.125 N c -0.859 -0.736 0.995 0.337 0.623 0.393 0 2.8 0.317 3.057 0.494 0.025 0.148 0.921 0.317 0.440 0.261 7.112 0.244 . ENSG00000165970.7 Testis 0.7716 0.8771 0.7499 0.8157 0.7602 0.7431 0.7625 0.7607 0.7899 0.791 0.8759 0.7398 0.8013 0.7438 0.7420 0.7632 0.7541 hom 1051.56 36 11 20623042 . T C 1051.56 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=29.21;VQSLOD=8.2304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:84.27:1085,84,0 11 20623156 20623156 C G exonic SLC6A5 nonsynonymous SNV SLC6A5:NM_004211:exon2:c.C485G:p.A162G 0.99 0.98 1. 1. 1. 1. 0.9983 0.9819 0.9997 1 1 0.9998 0.9977 1 0.99 0.98 1. 0.99 0.97 rs1443549 . . Benign Hyperekplexia RCV000381210.1 MedGen C0234166 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.070 0.216 N 0.998 0.224 P -1.845 0.003 N -0.5 0.705 T 0.75 0.020 N 0.027 0.092 -0.929 0.443 T 0.000 0.000 T . . . 1.483 0.241 13.22 0.426 0.031 0.166 0.193 N c -0.586 -0.273 1.000 0.747 0.437 0.062 0 5.59 0.846 7.509 0.804 0.087 0.193 1.000 0.715 0.995 0.604 15.447 0.749 . . . 0.9986 0.9807 0.9992 0.9988 1 1 1.0000 0.9993 1 0.9951 0.9829 0.9976 1 1 1 1 1 hom 1818 59 11 20623156 . C G 1818 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;QD=30.81;VQSLOD=7.3596;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1851,144,0 11 20639400 20639400 A G exonic SLC6A5 synonymous SNV SLC6A5:NM_001318369:exon6:c.A528G:p.S176S,SLC6A5:NM_004211:exon7:c.A1230G:p.S410S 1. 0.99 1. 1. 1. 1. 0.9989 0.9887 0.9997 1 1 0.9998 0.9967 0.9999 0.99 0.99 1. 1. 1. rs7925597 . . Benign Hyperekplexia RCV000279669.1 MedGen C0234166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9880 0.9996 0.9988 1 1 0.9999 0.9996 0.9999 0.9969 0.9891 1 1 1 1 0.9999 0.9990 hom 5834.51 186 11 20639400 . A G 5834.51 Mask AC=2;AF=1.00;AN=2;DP=186;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4942;MQ=59.80;MQ0=0;QD=31.37;VQSLOD=8.2735;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5833,469,0 11 20805286 20805286 G A exonic NELL1 nonsynonymous SNV NELL1:NM_001288714:exon3:c.G245A:p.R82Q,NELL1:NM_006157:exon3:c.G245A:p.R82Q,NELL1:NM_201551:exon3:c.G245A:p.R82Q,NELL1:NM_001288713:exon4:c.G329A:p.R110Q 0.64 0.23 0.83 0.84 0.74 0.74 0.7362 0.2943 0.8889 0.8635 0.6622 0.7651 0.7467 0.7526 0.6 0.3 0.76 0.49 0.7 rs8176785 . . . . . . . . . . . . . 0.174 0.384 T 0.007 0.246 B 0.004 0.259 B 0.003 0.358 N 0.579 0.311 P 1.25 0.319 L 4.41 0.022 T -2.23 0.501 N 0.02 0.064 -1.096 0.046 T 0.000 0.000 T . . . 3.389 0.466 23.0 0.993 0.578 0.928 0.563 D c -0.231 -0.105 0.000 0.029 0.487 0.133 0 3.07 0.343 3.456 0.525 -0.328 0.075 1.000 0.715 0.995 0.604 11.244 0.480 Concanavalin A-like lectin/glucanase domain|Laminin G domain . . 0.7478 0.2897 0.8815 0.8275 0.8565 0.6583 0.7611 0.7745 0.7548 0.6200 0.2985 0.8660 0.8510 0.8473 0.6499 0.7502 0.7249 hom 3595.33 117 11 20805286 . G A 3595.33 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3900;MQ=59.09;MQ0=0;QD=30.73;VQSLOD=9.3180;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3595,277,0 11 21581805 21581805 C T exonic NELL1 synonymous SNV NELL1:NM_001288714:exon16:c.C1686T:p.G562G,NELL1:NM_201551:exon16:c.C1716T:p.G572G,NELL1:NM_006157:exon17:c.C1857T:p.G619G,NELL1:NM_001288713:exon18:c.C1941T:p.G647G 0.54 0.25 0.63 0.58 0.81 0.57 0.7068 0.3413 0.5468 0.6334 0.7804 0.8166 0.7192 0.6127 0.67 0.37 0.82 0.51 0.87 rs8176789 COSM4145631 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7088 0.3361 0.5594 0.8255 0.6254 0.7848 0.8174 0.7452 0.6125 0.6660 0.3565 0.5885 0.8444 0.6084 0.7858 0.8175 0.7766 het 2181.20 207 11 21581805 . C T 2181.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.788;DP=207;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.3637;MQ=59.55;MQ0=0;MQRankSum=1.148;QD=10.54;ReadPosRankSum=-1.243;VQSLOD=4.7802;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:118,88:207:99:2211,0,3129 11 22242729 22242729 T C exonic ANO5 synonymous SNV ANO5:NM_001142649:exon5:c.T264C:p.D88D,ANO5:NM_213599:exon5:c.T267C:p.D89D 0.79 0.95 0.73 0.59 0.79 0.82 0.7772 0.9336 0.5883 0.5576 0.8195 0.8026 0.7911 0.8030 0.84 0.93 0.8 0.83 0.77 rs4312063 COSM3998372 1(haematopoietic_and_lymphoid_tissue) Benign|not provided|Benign|Benign not_specified|not_provided|Miyoshi_myopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000082848.8|RCV000128783.1|RCV000282244.1|RCV000334993.1 MedGen|MedGen|MedGen|MedGen CN169374|CN221809|CN230453|CN239352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7661 0.9369 0.5992 0.7430 0.5531 0.8213 0.8069 0.7730 0.8009 0.8322 0.9320 0.6316 0.7053 0.5600 0.8199 0.8216 0.7924 hom 1036.15 39 11 22242729 . T C 1036.15 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=26.57;VQSLOD=8.1827;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:84.25:1069,84,0 11 22271870 22271870 A T exonic ANO5 nonsynonymous SNV ANO5:NM_001142649:exon10:c.A963T:p.L321F,ANO5:NM_213599:exon10:c.A966T:p.L322F . . . . . . 0.4835 0.1630 0.2840 0.1824 0.5942 0.5892 0.5346 0.5057 0.45 0.18 0.59 0.38 0.61 rs7481951 COSM3998373 2(haematopoietic_and_lymphoid_tissue) Benign|not provided|Likely benign|Likely benign not_specified|not_provided|Miyoshi_myopathy|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000082855.9|RCV000128791.1|RCV000261985.1|RCV000386589.1 MedGen|MedGen|MedGen|MedGen CN169374|CN221809|CN230453|CN239352 . . . . . . 0.136 0.260 T 0.011 0.147 B 0.022 0.184 B 0.289 0.148 N 1 0.090 P 1.305 0.328 L -0.19 0.659 T -2.27 0.506 N 0.071 0.059 -0.934 0.436 T 0.000 0.000 T . . . 1.463 0.238 13.12 0.992 0.541 0.084 0.142 N c -0.543 -0.449 0.000 0.062 0.554 0.246 0 3.01 0.337 0.001 0.128 1.088 0.866 0.004 0.165 0.993 0.574 5.327 0.151 . ENSG00000171714.10|ENSG00000171714.10|ENSG00000171714.10|ENSG00000171714.10|ENSG00000171714.10|ENSG00000171714.10|ENSG00000171714.10|ENSG00000171714.10|ENSG00000171714.10|ENSG00000171714.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Hypothalamus|Colon_Transverse|Lung|Nerve_Tibial|Thyroid 0.4801 0.1549 0.2964 0.6011 0.1779 0.5929 0.5856 0.5198 0.5026 0.4461 0.1647 0.3465 0.58 0.2005 0.5914 0.6011 0.5153 het 903.78 77 11 22271870 . A T 903.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.598;DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=59.70;MQ0=0;MQRankSum=0.148;QD=11.74;ReadPosRankSum=-0.138;VQSLOD=6.9823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,36:77:99:934,0,1008 11 25098938 25098938 G C exonic LUZP2 nonsynonymous SNV LUZP2:NM_001252010:exon9:c.G796C:p.E266Q,LUZP2:NM_001009909:exon11:c.G922C:p.E308Q,LUZP2:NM_001252008:exon11:c.G664C:p.E222Q 0.44 0.12 0.47 0.78 0.46 0.48 0.4355 0.1559 0.4387 0.8060 0.4834 0.4195 0.4703 0.4589 0.34 0.17 0.42 0.32 0.35 rs7930185 COSM3752305 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.078 0.339 T 0.783 0.424 P 0.365 0.416 B 0.278 0.150 N 1 0.090 P 0.46 0.130 N 0.71 0.515 T -1.17 0.330 N 0.037 0.074 -1.058 0.123 T 0.000 0.000 T . . . 1.112 0.201 11.28 0.932 0.223 0.078 0.137 N c -0.630 -0.671 0.000 0.012 0.554 0.246 0 3.09 0.345 0.205 0.170 -0.260 0.088 0.000 0.063 0.000 0.016 6.814 0.229 . . . 0.4434 0.1541 0.4367 0.4777 0.8022 0.4898 0.4133 0.4322 0.4614 0.3745 0.1636 0.4351 0.4570 0.8183 0.4907 0.4119 0.4631 hom 6848.09 238 11 25098938 . G C 6848.09 Mask AC=2;AF=1.00;AN=2;DP=238;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5570;MQ=59.15;MQ0=0;QD=28.77;VQSLOD=7.3197;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,238:238:99:6848,503,0 11 26568966 26568966 A G exonic ANO3 synonymous SNV ANO3:NM_001313727:exon9:c.A720G:p.L240L,ANO3:NM_031418:exon12:c.A1158G:p.L386L,ANO3:NM_001313726:exon13:c.A1341G:p.L447L 0.68 0.55 0.71 0.81 0.67 0.69 0.6862 0.5830 0.7076 0.8157 0.7339 0.6733 0.6883 0.7016 0.65 0.59 0.68 0.64 0.76 rs2663168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6932 0.5799 0.7144 0.6817 0.8170 0.7243 0.6762 0.6910 0.6999 0.6625 0.5759 0.7236 0.6921 0.8061 0.7234 0.6787 0.6728 hom 7714.64 249 11 26568966 . A G 7714.64 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6857;MQ=58.22;MQ0=0;QD=30.98;VQSLOD=7.8977;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7714,584,0 11 26586801 26586801 G A exonic MUC15 nonsynonymous SNV MUC15:NM_145650:exon2:c.C605T:p.T202I,MUC15:NM_001135091:exon3:c.C686T:p.T229I,MUC15:NM_001135092:exon3:c.C686T:p.T229I 0.56 0.49 0.74 0.44 0.66 0.56 0.6390 0.5186 0.8249 0.4306 0.7503 0.6470 0.6843 0.6108 0.6 0.51 0.65 0.54 0.66 rs15783 . . . . . . . . . . . . . 0.051 0.450 T 0.844 0.447 P 0.432 0.436 B 0.021 0.270 N 1.000 0.182 P 1.04 0.263 L 1.55 0.304 T -3.99 0.835 D 0.252 0.308 -1.009 0.272 T 0.000 0.000 T . . . 3.601 0.490 23.2 0.996 0.769 0.138 0.179 N c -0.350 -0.464 0.001 0.080 0.487 0.133 0 2.12 0.262 1.269 0.325 0.953 0.551 0.640 0.278 0.258 0.229 4.199 0.098 . . . 0.6448 0.5121 0.8071 0.6677 0.4310 0.7437 0.6444 0.6633 0.5806 0.6191 0.5202 0.7828 0.6788 0.4405 0.7491 0.6534 0.6404 het 749.72 60 11 26586801 . G A 749.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.230;DP=60;Dels=0.00;FS=0.971;HRun=0;HaplotypeScore=1.7825;MQ=59.62;MQ0=0;MQRankSum=-0.157;QD=12.50;ReadPosRankSum=-0.977;VQSLOD=6.6655;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,34:60:99:780,0,667 11 26587133 26587133 T C exonic MUC15 synonymous SNV MUC15:NM_145650:exon2:c.A273G:p.S91S,MUC15:NM_001135091:exon3:c.A354G:p.S118S,MUC15:NM_001135092:exon3:c.A354G:p.S118S 0.67 0.71 0.8 0.48 0.73 0.66 0.7267 0.7338 0.8699 0.4571 0.7949 0.7393 0.7368 0.6850 0.74 0.73 0.74 0.63 0.82 rs293980 COSM4416578;COSM4416577 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7338 0.7328 0.8607 0.7405 0.4600 0.7922 0.7390 0.7438 0.6849 0.7357 0.7347 0.8486 0.7533 0.4679 0.7947 0.7439 0.7434 het 1186.50 99 11 26587133 . T C 1186.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.427;DP=99;Dels=0.00;FS=0.765;HRun=0;HaplotypeScore=0.7887;MQ=56.70;MQ0=0;MQRankSum=0.430;QD=11.98;ReadPosRankSum=0.473;VQSLOD=4.4560;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,49:99:99:1216,0,1343 11 26656563 26656563 C T exonic ANO3 synonymous SNV ANO3:NM_001313727:exon17:c.C1551T:p.F517F,ANO3:NM_031418:exon20:c.C1989T:p.F663F,ANO3:NM_001313726:exon21:c.C2172T:p.F724F 0.34 0.23 0.25 0.36 0.42 0.47 0.3811 0.2293 0.2209 0.3572 0.3341 0.4166 0.3698 0.4768 0.36 0.23 0.42 0.38 0.41 rs7946841 COSM3752307 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3751 0.2298 0.2306 0.4364 0.3591 0.3389 0.4145 0.3696 0.4784 0.3534 0.2273 0.2458 0.4633 0.3385 0.3493 0.4304 0.3939 het 1326.11 99 11 26656563 . C T 1326.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.425;DP=99;Dels=0.00;FS=1.821;HRun=2;HaplotypeScore=0.9734;MQ=58.25;MQ0=0;MQRankSum=0.284;QD=13.40;ReadPosRankSum=-0.620;VQSLOD=5.6972;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,51:99:99:1356,0,1218 11 26677947 26677947 C T exonic ANO3 synonymous SNV ANO3:NM_001313727:exon23:c.C2244T:p.P748P,ANO3:NM_031418:exon26:c.C2682T:p.P894P,ANO3:NM_001313726:exon27:c.C2865T:p.P955P 0.56 0.33 0.55 0.57 0.67 0.76 0.6347 0.3514 0.5289 0.5606 0.6584 0.6750 0.6476 0.7525 0.56 0.36 0.66 0.49 0.66 rs10835051 COSM3752308 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6328 0.3458 0.5337 0.7436 0.5655 0.6613 0.6644 0.6392 0.7494 0.5794 0.3546 0.5287 0.7417 0.5475 0.6723 0.6851 0.6759 hom 3443.66 111 11 26677947 . C T 3443.66 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=31.02;VQSLOD=9.3188;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3443,259,0 11 26692733 26692733 T C exonic SLC5A12 synonymous SNV SLC5A12:NM_178498:exon15:c.A1773G:p.R591R 0.32 0.28 0.22 0.47 0.31 0.28 0.2814 0.2756 0.2009 0.4616 0.3572 0.2757 0.2984 0.2386 0.27 0.26 0.27 0.29 0.22 rs7114378 COSM3752309 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2795 0.2729 0.2051 0.2643 0.4596 0.3437 0.2749 0.2859 0.2351 0.2877 0.2717 0.2320 0.2616 0.4822 0.3423 0.2673 0.2875 het 2173.41 153 11 26692733 . T C 2173.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.116;DP=153;Dels=0.00;FS=7.793;HRun=1;HaplotypeScore=0.0000;MQ=56.41;MQ0=0;MQRankSum=-0.236;QD=14.21;ReadPosRankSum=-0.816;VQSLOD=3.0134;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,80:153:99:2203,0,1899 11 26692742 26692742 G A exonic SLC5A12 synonymous SNV SLC5A12:NM_178498:exon15:c.C1764T:p.N588N 0.32 0.28 0.22 0.47 0.32 0.28 0.2810 0.2711 0.2005 0.4605 0.3575 0.2758 0.2978 0.2387 0.27 0.26 0.27 0.29 0.22 rs7128823 COSM3752310 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2778 0.2675 0.2025 0.2632 0.4570 0.3431 0.2740 0.2833 0.2328 0.2873 0.2699 0.2288 0.2616 0.4835 0.3429 0.2676 0.2863 het 1935.37 139 11 26692742 . G A 1935.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.312;DP=139;Dels=0.00;FS=5.987;HRun=0;HaplotypeScore=0.8941;MQ=56.56;MQ0=0;MQRankSum=0.297;QD=13.92;ReadPosRankSum=0.006;VQSLOD=3.7049;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,72:139:99:1965,0,1835 11 26694979 26694979 A G exonic SLC5A12 synonymous SNV SLC5A12:NM_178498:exon14:c.T1677C:p.C559C 0.42 0.44 0.31 0.35 0.49 0.48 0.4592 0.4404 0.2660 0.3569 0.3982 0.5015 0.4597 0.5137 0.48 0.44 0.5 0.45 0.54 rs4369354 COSM3998379 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4472 0.4355 0.2738 0.5199 0.3568 0.4083 0.4980 0.4490 0.5094 0.4669 0.4406 0.3007 0.5497 0.3411 0.4171 0.5142 0.4756 het 3183.04 231 11 26694979 . A G 3183.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.591;DP=231;DS;Dels=0.00;FS=5.551;HRun=0;HaplotypeScore=7.7925;MQ=58.76;MQ0=0;MQRankSum=1.300;QD=13.78;ReadPosRankSum=1.469;VQSLOD=4.3150;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,128:231:99:3213,0,2665 11 26702664 26702664 C T exonic SLC5A12 synonymous SNV SLC5A12:NM_178498:exon12:c.G1413A:p.L471L 0.99 0.97 1. 1. 1. 1. 0.9975 0.9710 0.9985 1 1 1.0000 1 0.9999 0.99 0.97 1. 1. 0.97 rs10734383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9714 0.9988 1 1 1 1.0000 0.9993 1.0000 0.9914 0.9702 0.9952 1 1 1 0.9999 0.9990 hom 1471.71 47 11 26702664 . C T 1471.71 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;QD=31.31;VQSLOD=8.5481;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1505,129,0 11 26705310 26705310 A G exonic SLC5A12 synonymous SNV SLC5A12:NM_178498:exon11:c.T1302C:p.N434N 0.44 0.32 0.37 0.35 0.63 0.53 0.5898 0.4013 0.4655 0.4224 0.6088 0.6537 0.5549 0.5650 0.54 0.38 0.62 0.42 0.48 rs3924551 COSM4965790 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5120 0.3441 0.3197 0.6024 0.3310 0.5337 0.6049 0.5353 0.5425 0.5119 0.3436 0.3437 0.6225 0.3277 0.5422 0.6269 0.5560 het 355.72 26 11 26705310 . A G 355.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DP=26;Dels=0.00;FS=3.783;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.363;QD=13.68;ReadPosRankSum=-1.401;VQSLOD=6.0996;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,15:26:99:386,0,261 11 26734209 26734209 C T exonic SLC5A12 synonymous SNV SLC5A12:NM_178498:exon2:c.G384A:p.T128T 0.77 0.4 0.9 0.86 0.96 0.9 0.8921 0.4810 0.9071 0.8707 0.9141 0.9555 0.9240 0.8847 0.8 0.48 0.96 0.72 0.85 rs10742156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8998 0.4725 0.9087 0.9119 0.8716 0.9161 0.9582 0.9301 0.8852 0.8129 0.4884 0.8816 0.9040 0.8660 0.9227 0.9571 0.9163 hom 8022.66 241 11 26734209 . C T 8022.66 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.46;MQ0=0;QD=33.29;VQSLOD=8.9765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:8022,629,0 11 27077118 27077118 C T exonic BBOX1 synonymous SNV BBOX1:NM_003986:exon3:c.C141T:p.S47S 1. 1. 1. 1. 1. 1. 1.0000 0.9994 1 1 1 1 1 1 1. 1. 1. 1. 1. rs10767598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9993 1.0000 1 1 1 1 1 1 0.9999 0.9997 1 1 1 1 1 1 hom 2147.44 65 11 27077118 . C T 2147.44 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=33.04;VQSLOD=8.8385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2180,172,0 11 27114788 27114788 C T exonic BBOX1 synonymous SNV BBOX1:NM_003986:exon5:c.C408T:p.H136H 0.29 0.68 0.17 0.052 0.22 0.17 0.2357 0.5902 0.1287 0.0413 0.2659 0.2318 0.2577 0.1895 0.35 0.58 0.24 0.33 0.27 rs3183973 COSM147168 1(stomach);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2274 0.5902 0.1367 0.3004 0.0414 0.2636 0.2304 0.2405 0.1874 0.3352 0.5871 0.1722 0.2933 0.0473 0.2682 0.2501 0.2485 het 806.81 66 11 27114788 . C T 806.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.702;DP=66;Dels=0.00;FS=0.937;HRun=0;HaplotypeScore=4.4898;MQ=57.29;MQ0=0;MQRankSum=1.384;QD=12.22;ReadPosRankSum=-0.457;VQSLOD=4.3024;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,36:66:99:837,0,809 11 27362359 27362359 T G exonic CCDC34 nonsynonymous SNV CCDC34:NM_030771:exon5:c.A791C:p.E264A 0.16 0.056 0.26 0.073 0.34 0.14 0.2625 0.1013 0.2536 0.0628 0.3067 0.3350 0.2671 0.1642 0.27 0.11 0.35 0.17 0.37 rs17244028 COSM3752312 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.172 0.226 T 0.957 0.528 D 0.86 0.594 P 0.000 0.559 D 0.003 0.437 P 2.44 0.710 M 1.81 0.252 T -3.82 0.720 D 0.216 0.265 -0.931 0.440 T 0.000 0.000 T . . . 4.451 0.596 24.2 0.989 0.474 0.884 0.480 D c 0.578 0.608 1.000 0.517 0.706 0.609 0 5.92 0.955 4.213 0.581 1.061 0.807 1.000 0.715 1.000 0.888 11.224 0.479 . . . 0.2689 0.0973 0.2581 0.2592 0.0592 0.3103 0.3475 0.2879 0.1676 0.2607 0.1018 0.2625 0.2715 0.0655 0.3280 0.357 0.2811 hom 2313.58 80 11 27362359 . T G 2313.58 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=57.63;MQ0=0;QD=28.92;VQSLOD=7.1967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2347,172,0 11 27390089 27390089 T C exonic LGR4 synonymous SNV LGR4:NM_001346432:exon17:c.A2109G:p.K703K,LGR4:NM_018490:exon18:c.A2181G:p.K727K 1. 1. 1. 1. 1. 1. 1.0000 0.9997 1 1 1 1 1 1 . . . 1. 1. rs2447997 COSM4594546 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9995 1.0000 1 1 1 1 1 1 1.0000 0.9999 1 1 1 1 1 1 hom 5047.22 164 11 27390089 . T C 5047.22 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2798;MQ=59.86;MQ0=0;QD=30.78;VQSLOD=7.6110;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5047,379,0 11 27679662 27679662 T C exonic BDNF synonymous SNV BDNF:NM_170735:exon1:c.A450G:p.A150A,BDNF:NM_001143805:exon2:c.A450G:p.A150A,BDNF:NM_001143806:exon2:c.A450G:p.A150A,BDNF:NM_001143807:exon2:c.A450G:p.A150A,BDNF:NM_001143808:exon2:c.A450G:p.A150A,BDNF:NM_001143809:exon2:c.A537G:p.A179A,BDNF:NM_001143812:exon2:c.A450G:p.A150A,BDNF:NM_001143813:exon2:c.A450G:p.A150A,BDNF:NM_001143816:exon2:c.A450G:p.A150A,BDNF:NM_001709:exon2:c.A450G:p.A150A,BDNF:NM_170731:exon2:c.A474G:p.A158A,BDNF:NM_170732:exon2:c.A450G:p.A150A,BDNF:NM_170733:exon2:c.A450G:p.A150A,BDNF:NM_170734:exon2:c.A495G:p.A165A,BDNF:NM_001143810:exon3:c.A696G:p.A232A,BDNF:NM_001143814:exon3:c.A450G:p.A150A,BDNF:NM_001143811:exon4:c.A450G:p.A150A 1. 0.98 1. 1. 1. 1. 0.9989 0.9881 0.9996 1 1 1.0000 1 1 1. 0.99 1. 0.99 1. rs2353512 . . Benign not_specified RCV000156118.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9873 0.9992 1 1 1 1.0000 0.9996 1.0000 0.9962 0.9865 1 1 1 1 1 1 hom 6700.09 226 11 27679662 . T C 6700.09 Mask AC=2;AF=1.00;AN=2;DP=226;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.6534;MQ=58.81;MQ0=0;QD=29.65;VQSLOD=4.6531;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:6698,566,0 11 28057957 28057957 T C exonic KIF18A nonsynonymous SNV KIF18A:NM_031217:exon14:c.A2203G:p.I735V 0.4 0.64 0.2 0.48 0.3 0.23 0.3212 0.5963 0.1648 0.4442 0.3240 0.2963 0.3079 0.2916 0.4 0.6 0.29 0.47 0.28 rs10458896 COSM4418329 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.752 0.036 T 0.0 0.026 B 0.0 0.013 B 0.323 0.041 N 1 0.090 P 0.49 0.133 N -0.49 0.704 T 0.09 0.059 N 0.022 0.005 -0.955 0.401 T 0.000 0.000 T . . . -1.650 0.014 0.002 0.182 0.006 0.037 0.089 N c -1.208 -1.199 0.177 0.178 0.706 0.609 0 0.187 0.143 -0.348 0.077 -0.856 0.029 0.000 0.063 0.072 0.177 8.379 0.314 . . . 0.3103 0.6085 0.1752 0.2423 0.4477 0.3260 0.2959 0.3062 0.2951 0.3911 0.6055 0.2115 0.2733 0.4479 0.3240 0.2945 0.2975 het 395.78 39 11 28057957 . T C 395.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.620;DP=39;Dels=0.00;FS=1.287;HRun=0;HaplotypeScore=1.7820;MQ=59.04;MQ0=0;MQRankSum=0.581;QD=10.15;ReadPosRankSum=-0.297;VQSLOD=6.7485;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,17:39:99:426,0,559 11 28110151 28110151 T C exonic KIF18A nonsynonymous SNV KIF18A:NM_031217:exon6:c.A817G:p.T273A 0.16 0.16 0.036 0.4 0.049 0.13 0.0898 0.1517 0.0253 0.3657 0.0410 0.0437 0.0632 0.1587 0.079 0.15 0.043 0.2 0.033 rs12272419 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.038 0.243 N 1 0.090 P -1.275 0.007 N -0.85 0.744 T 1.61 0.006 N 0.003 0.000 -0.971 0.371 T 0.000 0.000 T . . . -1.108 0.028 0.010 0.375 0.025 0.079 0.137 N c -1.212 -1.115 0.153 0.175 0.732 0.924 0 -2.37 0.062 0.954 0.286 -0.357 0.069 0.046 0.210 0.576 0.284 7.950 0.290 Kinesin motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0862 0.1538 0.0254 0.0829 0.3701 0.0438 0.0409 0.0659 0.1593 0.0927 0.1561 0.0335 0.0894 0.3666 0.0427 0.0436 0.0621 het 1486.95 116 11 28110151 . T C 1486.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.774;DP=116;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.3548;MQ=59.19;MQ0=0;MQRankSum=-0.081;QD=12.82;ReadPosRankSum=2.200;VQSLOD=5.8809;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,63:116:99:1517,0,1269 11 30033191 30033191 G A exonic KCNA4 synonymous SNV KCNA4:NM_002233:exon2:c.C1035T:p.G345G 0.17 0.32 0.18 0.036 0.17 0.11 0.1697 0.2999 0.1732 0.0340 0.2374 0.1708 0.1956 0.1278 0.21 0.29 0.16 0.16 0.11 rs3802914 COSM3752320 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1715 0.3033 0.1673 0.2585 0.0369 0.2379 0.1648 0.1760 0.1334 0.2177 0.3023 0.1826 0.27 0.0432 0.2438 0.1843 0.1879 het 4156.66 250 11 30033191 . G A 4156.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.715;DP=250;DS;Dels=0.00;FS=2.141;HRun=0;HaplotypeScore=4.1697;MQ=59.42;MQ0=0;MQRankSum=0.398;QD=16.63;ReadPosRankSum=-0.361;VQSLOD=5.7452;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,135:250:99:3527,0,2950 11 30255185 30255185 C T exonic FSHB synonymous SNV FSHB:NM_000510:exon3:c.C228T:p.Y76Y,FSHB:NM_001018080:exon3:c.C228T:p.Y76Y 0.61 0.76 0.53 0.67 0.45 0.59 0.5142 0.7140 0.5437 0.6746 0.4897 0.4455 0.4592 0.5744 0.53 0.71 0.44 0.7 0.5 rs6169 COSM3998384 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|isolated_follicle-stimulating_hormone_deficiency RCV000249738.1|RCV000324366.1 MedGen|MedGen CN169374|CN221143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5113 0.7117 0.5445 0.4762 0.6695 0.5007 0.4387 0.4929 0.5719 0.5327 0.7034 0.5549 0.4603 0.6569 0.4871 0.4346 0.4764 het 1631.87 137 11 30255185 . C T 1631.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.361;DP=137;Dels=0.00;FS=1.368;HRun=0;HaplotypeScore=0.9894;MQ=59.56;MQ0=0;MQRankSum=-1.135;QD=11.91;ReadPosRankSum=0.183;VQSLOD=6.4823;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,64:137:99:1662,0,1902 11 31327316 31327316 C T exonic DCDC1 synonymous SNV DCDC1:NM_181807:exon6:c.G600A:p.E200E 0.68 0.94 0.7 0.38 0.67 0.63 0.6515 0.9012 0.6748 0.3699 0.5531 0.6596 0.6630 0.6322 0.74 0.9 0.65 0.65 0.6 rs2616815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6445 0.9103 0.6780 0.7317 0.3707 0.5582 0.6532 0.6554 0.6312 0.6889 0.9034 0.6926 0.7616 0.3602 0.5528 0.6340 0.6161 hom 2504.44 76 11 31327316 . C T 2504.44 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.43;MQ0=0;QD=32.95;VQSLOD=9.5897;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2537,202,0 11 32657266 32657266 T C exonic CCDC73 synonymous SNV CCDC73:NM_001008391:exon14:c.A1161G:p.T387T 0.63 0.79 0.63 0.23 0.76 0.71 0.7062 0.7795 0.6049 0.2075 0.8543 0.7596 0.7325 0.7191 0.74 0.76 0.74 0.59 0.59 rs201854 COSM147172 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7199 0.7775 0.5964 0.6884 0.2016 0.8604 0.7521 0.7344 0.6965 0.7370 0.7691 0.6358 0.66 0.2026 0.8629 0.7537 0.7398 het 496.20 45 11 32657266 . T C 496.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.487;DP=45;Dels=0.00;FS=1.154;HRun=0;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;MQRankSum=0.511;QD=11.03;ReadPosRankSum=-1.351;VQSLOD=5.8418;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:526,0,526 11 32874926 32874926 G A exonic PRRG4 synonymous SNV PRRG4:NM_024081:exon6:c.G534A:p.P178P 0.41 0.35 0.48 0.41 0.4 0.43 0.4000 0.3596 0.4435 0.3861 0.4240 0.3839 0.4361 0.4557 0.38 0.37 0.38 0.36 0.3 rs11032025 COSM1353552 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4049 0.3581 0.4437 0.3897 0.3849 0.4232 0.3859 0.4066 0.4570 0.3750 0.3624 0.4282 0.3767 0.3714 0.4215 0.3709 0.3423 het 2204.50 156 11 32874926 . G A 2204.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.557;DP=156;Dels=0.00;FS=2.924;HRun=0;HaplotypeScore=2.4115;MQ=59.22;MQ0=0;MQRankSum=0.101;QD=14.13;ReadPosRankSum=0.018;VQSLOD=6.5925;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,82:156:99:2234,0,1840 11 32954344 32954344 G A exonic QSER1 nonsynonymous SNV QSER1:NM_001076786:exon4:c.G1153A:p.V385I 0.97 0.89 0.99 1. 1. 1. 0.9915 0.9124 0.9894 1 1 0.9995 0.9911 0.9998 0.97 0.91 1. 0.98 0.98 rs1022586 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.024 0.263 N 1 0.203 P -0.28 0.037 N 1.06 0.398 T -0.14 0.092 N 0.032 0.012 -0.960 0.392 T 0.000 0.000 T . . . -1.049 0.030 0.013 0.603 0.063 0.156 0.188 N c -1.407 -1.330 0.064 0.153 0.707 0.730 0 -5.6 0.023 -0.032 0.121 -1.186 0.016 0.513 0.268 0.957 0.436 10.008 0.409 . . . 0.9930 0.9110 0.9927 0.9998 1 1 0.9995 0.9923 0.9999 0.9765 0.9195 0.9869 0.9967 1 1 0.9993 0.9959 hom 2901.55 96 11 32954344 . G A 2901.55 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.624;DP=96;Dels=0.00;FS=3.104;HRun=0;HaplotypeScore=6.9156;MQ=58.44;MQ0=0;MQRankSum=1.480;QD=30.22;ReadPosRankSum=1.480;VQSLOD=3.6842;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,95:96:99:2935,214,0 11 32956244 32956244 A G exonic QSER1 nonsynonymous SNV QSER1:NM_001076786:exon4:c.A3053G:p.N1018S 0.97 0.9 0.99 1. 1. 1. 0.9916 0.9134 0.9894 1 1 0.9994 0.9911 0.9998 0.97 0.91 1. 0.98 0.98 rs7940077 . . . . . . . . . . . . . 1.0 0.010 T 0.006 0.126 B 0.005 0.104 B 0.000 0.629 N 1.000 0.206 P -2.36 0.001 N 2.54 0.181 T 1.13 0.015 N 0.014 0.014 -0.954 0.403 T 0.000 0.000 T . . . -1.191 0.025 0.007 0.126 0.002 0.282 0.233 N c -0.785 -0.520 0.035 0.142 0.707 0.730 0 4.92 0.640 2.451 0.444 -0.231 0.094 1.000 0.715 0.107 0.192 6.584 0.217 . . . 0.9930 0.9110 0.9927 0.9998 1 1 0.9995 0.9923 0.9999 0.9766 0.9200 0.9869 0.9967 1 1 0.9993 0.9959 hom 3435.20 103 11 32956244 . A G 3435.20 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8930;MQ=58.59;MQ0=0;QD=33.35;VQSLOD=9.2121;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3435,265,0 11 32956620 32956620 A G exonic QSER1 synonymous SNV QSER1:NM_001076786:exon4:c.A3429G:p.P1143P 0.8 0.55 0.85 0.99 0.81 0.88 0.8249 0.5761 0.8876 0.9966 0.8211 0.8175 0.8356 0.8698 0.75 0.59 0.82 0.78 0.71 rs7481878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8313 0.5739 0.8869 0.7922 0.9971 0.8200 0.8200 0.8103 0.8704 0.7674 0.5832 0.8313 0.7748 0.9969 0.8183 0.8317 0.8004 het 1367.16 107 11 32956620 . A G 1367.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.490;DP=107;Dels=0.00;FS=1.749;HRun=1;HaplotypeScore=3.9146;MQ=58.34;MQ0=0;MQRankSum=1.449;QD=12.78;ReadPosRankSum=1.842;VQSLOD=5.0929;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,52:107:99:1397,0,1507 11 32996805 32996805 C T exonic QSER1 synonymous SNV QSER1:NM_001076786:exon12:c.C4983T:p.V1661V 0.059 0.0015 0.099 0.005 0.15 0.072 0.1107 0.0270 0.0675 0.0033 0.1183 0.1451 0.0993 0.1052 0.1 0.027 0.14 0.076 0.057 rs11032076 COSM1353567 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1060 0.0238 0.0750 0.1177 0.0028 0.1138 0.1442 0.1212 0.0782 0.0937 0.0265 0.1026 0.1391 0.0025 0.1143 0.1350 0.1178 het 1025.61 89 11 32996805 . C T 1025.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DP=89;Dels=0.00;FS=1.926;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=0.852;QD=11.52;ReadPosRankSum=-1.873;VQSLOD=5.7539;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,41:89:99:1056,0,1152 11 33076191 33076191 T C exonic TCP11L1 synonymous SNV TCP11L1:NM_001145541:exon3:c.T216C:p.G72G,TCP11L1:NM_018393:exon3:c.T216C:p.G72G 0.72 0.65 0.67 0.88 0.74 0.65 0.7043 0.6726 0.6177 0.8794 0.6689 0.7219 0.7059 0.6360 0.71 0.67 0.73 0.73 0.71 rs2273544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7028 0.6731 0.6192 0.7797 0.8774 0.6753 0.7221 0.7168 0.6334 0.6970 0.6706 0.6459 0.7682 0.8668 0.6642 0.7040 0.6827 het 1664.67 138 11 33076191 . T C 1664.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.347;DP=138;Dels=0.00;FS=2.202;HRun=0;HaplotypeScore=5.7774;MQ=59.73;MQ0=0;MQRankSum=1.144;QD=12.06;ReadPosRankSum=-0.049;VQSLOD=4.9237;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,66:138:99:1695,0,1902 11 33079580 33079580 A G exonic TCP11L1 nonsynonymous SNV TCP11L1:NM_001145541:exon5:c.A533G:p.K178R,TCP11L1:NM_018393:exon5:c.A533G:p.K178R 0.12 0.07 0.13 0.12 0.19 0.098 0.1495 0.0925 0.1179 0.1185 0.1620 0.1747 0.1932 0.1146 0.15 0.1 0.18 0.12 0.17 rs2273549 COSM5904976 1(skin) . . . . . . . . . . . 0.745 0.036 T 0.003 0.102 B 0.015 0.162 B 0.014 0.287 N 1.000 0.191 P 0.975 0.246 L 2.69 0.123 T 0.07 0.061 N 0.068 0.055 -0.929 0.443 T 0.000 0.000 T . . . -1.133 0.027 0.009 0.505 0.043 0.559 0.297 D c -0.915 -0.814 0.997 0.349 0.732 0.924 0 0.691 0.171 1.408 0.341 -0.221 0.097 0.901 0.312 0.862 0.360 5.668 0.169 . ENSG00000176148.11|ENSG00000213713.3 Whole_Blood|Whole_Blood 0.1507 0.0919 0.1171 0.2209 0.1214 0.1703 0.1721 0.1803 0.1131 0.1344 0.0972 0.1277 0.1921 0.1143 0.1650 0.1496 0.1459 het 1318.15 84 11 33079580 . A G 1318.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.706;DP=84;Dels=0.00;FS=5.874;HRun=1;HaplotypeScore=0.5784;MQ=59.23;MQ0=0;MQRankSum=-0.145;QD=15.69;ReadPosRankSum=-0.360;VQSLOD=5.5799;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,52:84:99:1348,0,889 11 33564123 33564123 T C exonic KIAA1549L synonymous SNV KIAA1549L:NM_012194:exon1:c.T123C:p.G41G 0.7 0.89 0.61 0.66 0.62 0.62 0.6522 0.8573 0.6163 0.6647 0.6467 0.6361 0.6737 0.6150 0.71 0.86 0.64 0.66 . rs2076623 COSM3998393;COSM3998392 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6502 0.8571 0.6207 0.6997 0.6755 0.6543 0.6313 0.6558 0.6142 0.6949 0.8432 0.6118 0.6846 0.6752 0.6469 0.6306 0.6365 hom 3315.83 99 11 33564123 . T C 3315.83 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.49;VQSLOD=14.4962;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3316,259,0 11 33581306 33581306 G A exonic KIAA1549L synonymous SNV KIAA1549L:NM_012194:exon6:c.G2976A:p.T992T 0.39 0.47 0.32 0.33 0.39 0.39 0.3877 0.4732 0.3207 0.3313 0.4402 0.3829 0.4174 0.4098 0.41 0.46 0.39 0.42 . rs2281380 COSM3931302;COSM3931301 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3873 0.4718 0.3239 0.4432 0.3308 0.4430 0.3807 0.4004 0.4097 0.4088 0.4700 0.3522 0.4305 0.3141 0.4344 0.3813 0.3934 hom 3531.41 109 11 33581306 . G A 3531.41 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=57.76;MQ0=0;QD=32.40;VQSLOD=8.1864;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3531,286,0 11 33596277 33596277 G A exonic KIAA1549L synonymous SNV KIAA1549L:NM_012194:exon9:c.G3369A:p.P1123P 0.0026 0.0008 0.0029 . 0.008 0.002 0.0055 0.0018 0.0048 0.0001 0.0015 0.0083 0.0022 0.0013 0.0054 0.0008 0.0077 . . rs139772715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0056 0.0017 0.0051 0.0085 5.815e-05 0.0015 0.0088 0.0060 0.0012 0.0043 0.0014 0.0024 0.0166 0 0.0011 0.0068 0.0071 het 1949.56 127 11 33596277 . G A 1949.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.486;DP=127;Dels=0.00;FS=0.700;HRun=2;HaplotypeScore=5.4386;MQ=59.85;MQ0=0;MQRankSum=0.036;QD=15.35;ReadPosRankSum=1.464;VQSLOD=2.9718;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,69:127:99:1980,0,1365 11 33631423 33631423 G A exonic KIAA1549L synonymous SNV KIAA1549L:NM_012194:exon14:c.G4299A:p.K1433K 0.45 0.56 0.38 0.38 0.39 0.49 0.4149 0.5414 0.3788 0.3973 0.4316 0.3885 0.4509 0.4723 0.43 0.53 0.39 0.47 . rs2076622 COSM3752338 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4183 0.5458 0.3922 0.4774 0.3989 0.4353 0.3866 0.4314 0.4753 0.4396 0.5546 0.3923 0.4533 0.3979 0.4295 0.3838 0.4112 hom 2058.64 68 11 33631423 . G A 2058.64 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.6988;MQ=60.00;MQ0=0;QD=30.27;VQSLOD=8.8845;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2092,160,0 11 33640104 33640104 A C exonic KIAA1549L synonymous SNV KIAA1549L:NM_012194:exon15:c.A4414C:p.R1472R 0.75 0.97 0.64 0.75 0.63 0.63 0.6865 0.9182 0.6642 0.7661 0.6910 0.6572 0.7100 0.6363 0.73 0.92 0.65 0.71 . rs768474 COSM3998394 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6817 0.9191 0.6601 0.7354 0.7723 0.6966 0.6490 0.6825 0.6265 0.7397 0.9195 0.6519 0.7053 0.7726 0.6842 0.6538 0.6786 hom 1113.95 38 11 33640104 . A C 1113.95 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7335;MQ=59.39;MQ0=0;QD=29.31;VQSLOD=8.7145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:96.28:1147,96,0 11 33881016 33881016 T C exonic LMO2 synonymous SNV LMO2:NM_001142316:exon3:c.A363G:p.K121K,LMO2:NM_001142315:exon4:c.A363G:p.K121K,LMO2:NM_005574:exon6:c.A570G:p.K190K 0.56 0.47 0.73 0.49 0.6 0.61 0.6001 0.5031 0.7839 0.5145 0.4805 0.6015 0.5650 0.6215 0.57 0.51 0.61 0.54 0.63 rs3740617 COSM147176 1(haematopoietic_and_lymphoid_tissue);1(stomach);18(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6101 0.5012 0.7717 0.6769 0.5177 0.4833 0.6047 0.6345 0.6258 0.5711 0.5070 0.7410 0.6987 0.5317 0.4894 0.6179 0.5953 hom 3272.37 102 11 33881016 . T C 3272.37 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9895;MQ=59.10;MQ0=0;QD=32.08;VQSLOD=9.6249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3272,262,0 11 34152939 34152939 T C exonic NAT10 nonsynonymous SNV NAT10:NM_001144030:exon12:c.T1165C:p.Y389H,NAT10:NM_024662:exon14:c.T1381C:p.Y461H 1. 0.99 1. 1. 1. 1. 0.9993 0.9920 0.9997 1 1 1 1 1 1. 0.99 1. 1. 1. rs2957516 . . . . . . . . . . . . . 0.456 0.088 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.391 0.810 P -2.19 0.001 N 1.03 0.405 T 3.12 0.001 N 0.038 0.319 -0.945 0.419 T 0.000 0.000 T . . . 1.672 0.262 14.25 0.833 0.142 0.250 0.224 N c -0.659 -0.379 1.000 0.747 0.722 0.854 0 5.76 0.907 6.118 0.711 0.069 0.176 1.000 0.715 0.485 0.268 15.380 0.743 Helicase domain . . 0.9994 0.9917 0.9996 1 1 1 1 1 1 0.9974 0.9911 1 1 1 1 0.9999 1 hom 3758.07 114 11 34152939 . T C 3758.07 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6320;MQ=59.34;MQ0=0;QD=32.97;VQSLOD=8.8560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3758,289,0 11 34154641 34154641 C T exonic NAT10 synonymous SNV NAT10:NM_001144030:exon14:c.C1470T:p.P490P,NAT10:NM_024662:exon16:c.C1686T:p.P562P 0.86 0.57 0.96 1. 0.96 0.94 0.9337 0.6400 0.9705 0.9999 0.9545 0.9583 0.9515 0.9493 0.85 0.64 0.96 0.84 0.97 rs2957518 . . Benign not_specified RCV000454708.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9404 0.6295 0.9641 0.9654 0.9996 0.9570 0.9582 0.9444 0.9505 0.8641 0.6309 0.9535 0.9868 0.9988 0.9576 0.9510 0.9369 hom 5868.60 181 11 34154641 . C T 5868.60 Mask AC=2;AF=1.00;AN=2;DP=181;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9291;MQ=59.24;MQ0=0;QD=32.42;VQSLOD=8.8525;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5868,472,0 11 34502345 34502345 T C exonic ELF5 synonymous SNV ELF5:NM_001243080:exon4:c.A360G:p.T120T,ELF5:NM_001243081:exon5:c.A441G:p.T147T,ELF5:NM_001422:exon6:c.A645G:p.T215T,ELF5:NM_198381:exon6:c.A675G:p.T225T 0.19 0.033 0.23 0.029 0.41 0.32 0.3329 0.0806 0.1829 0.0270 0.5469 0.4214 0.3458 0.3137 0.3 0.086 0.41 0.21 0.3 rs2231828 COSM5653692 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3315 0.0795 0.1868 0.3007 0.0279 0.5476 0.4203 0.3305 0.3158 0.3110 0.0815 0.1909 0.2752 0.0253 0.5560 0.4195 0.4100 het 1306.03 108 11 34502345 . T C 1306.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.277;DP=108;Dels=0.00;FS=1.562;HRun=0;HaplotypeScore=7.5094;MQ=58.43;MQ0=0;MQRankSum=1.149;QD=12.09;ReadPosRankSum=2.354;VQSLOD=4.1464;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,55:108:99:1336,0,1372 11 34680400 34680400 T A exonic EHF synonymous SNV EHF:NM_001206615:exon8:c.T756A:p.I252I,EHF:NM_001206616:exon9:c.T891A:p.I297I,EHF:NM_012153:exon9:c.T825A:p.I275I 0.13 0.058 0.066 0.13 0.12 0.29 0.1263 0.0610 0.0639 0.1242 0.1884 0.1114 0.1128 0.2472 0.085 0.057 0.099 0.098 0.12 rs286891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1238 0.0611 0.0674 0.0679 0.1312 0.1842 0.1091 0.1149 0.2419 0.1041 0.0610 0.0704 0.0497 0.1339 0.1807 0.1090 0.1370 het 775.90 54 11 34680400 . T A 775.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.714;DP=54;Dels=0.00;FS=1.083;HRun=0;HaplotypeScore=0.0000;MQ=58.00;MQ0=0;MQRankSum=0.787;QD=14.37;ReadPosRankSum=1.627;VQSLOD=3.9662;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,31:54:99:806,0,526 11 34909926 34909926 T G exonic APIP synonymous SNV APIP:NM_015957:exon5:c.A375C:p.T125T 0.58 0.35 0.57 0.74 0.68 0.62 0.6388 0.4097 0.5237 0.7475 0.6481 0.6825 0.6388 0.6259 0.6 0.41 0.69 0.52 0.65 rs1571133 COSM4145670;COSM4145671 1(kidney);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6406 0.4033 0.5371 0.6836 0.7496 0.6555 0.6840 0.6416 0.6242 0.6060 0.4168 0.5791 0.6656 0.7466 0.6573 0.6857 0.6599 hom 2930.04 97 11 34909926 . T G 2930.04 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.52;MQ0=0;QD=30.21;VQSLOD=8.1948;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2963,223,0 11 34910397 34910397 C T exonic APIP nonsynonymous SNV APIP:NM_015957:exon4:c.G227A:p.C76Y 0.46 0.31 0.4 0.74 0.36 0.52 0.4042 0.3146 0.4070 0.7455 0.3954 0.3546 0.3778 0.4862 0.34 0.31 0.36 0.34 0.25 rs1977420 COSM3931304;COSM3931303 1(urinary_tract) . . . . . . . . . . . 0.106 0.296 T 0.012 0.151 B 0.036 0.216 B 0.000 0.843 D 0.000 0.588 P 1.655 0.426 L 2.03 0.210 T -1.95 0.452 N 0.595 0.621 -0.965 0.381 T 0.000 0.000 T . . . 3.549 0.484 23.1 0.969 0.310 0.970 0.720 D c 0.023 0.237 1.000 0.747 0.706 0.609 0 5.85 0.936 7.568 0.814 0.852 0.362 1.000 0.715 0.985 0.512 20.177 0.982 Class II aldolase/adducin N-terminal ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000149089.8|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000149089.8|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000149089.8 Adrenal_Gland|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis 0.3941 0.3163 0.4099 0.4244 0.7462 0.3952 0.3482 0.3810 0.4724 0.3807 0.3313 0.4293 0.4272 0.7478 0.4122 0.3569 0.4100 het 450.55 36 11 34910397 . C T 450.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.477;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=57.21;MQ0=0;MQRankSum=0.933;QD=12.52;ReadPosRankSum=0.459;VQSLOD=6.5168;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,18:36:99:481,0,446 11 34916657 34916657 C T exonic APIP nonsynonymous SNV APIP:NM_015957:exon2:c.G58A:p.D20N 0.11 0.02 0.16 . 0.33 0.11 0.2333 0.0725 0.1161 0.0007 0.2514 0.3279 0.2621 0.1473 0.25 0.083 0.33 0.14 0.33 rs61734605 COSM3752345;COSM3752344 1(large_intestine) . . . . . . . . . . . 0.072 0.349 T 0.338 0.316 B 0.093 0.286 B 0.000 0.559 D 0.000 0.588 P 1.525 0.387 L 1.82 0.250 T -2.43 0.532 N 0.034 0.014 -0.937 0.432 T 0.000 0.000 T . . . 4.062 0.545 23.7 0.998 0.851 0.993 0.940 D c 0.169 0.318 1.000 0.747 0.706 0.609 0 5.17 0.707 6.865 0.751 0.852 0.362 1.000 0.715 0.999 0.750 18.655 0.914 . ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000110435.7|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.2323 0.0667 0.1291 0.2671 0.0006 0.2577 0.3360 0.2501 0.1479 0.2204 0.0679 0.1511 0.2384 0.0006 0.2450 0.3291 0.2515 het 1128.33 87 11 34916657 . C T 1128.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.334;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8857;MQ=59.16;MQ0=0;MQRankSum=-0.361;QD=12.97;ReadPosRankSum=0.123;VQSLOD=5.7726;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,44:87:99:1158,0,1217 11 34937813 34937813 G A exonic APIP nonsynonymous SNV APIP:NM_015957:exon1:c.C19T:p.R7W 0.43 0.22 0.4 0.74 0.35 0.52 0.4217 0.2870 0.4155 0.7498 0.4466 0.3739 0.3973 0.4941 0.32 0.24 0.35 0.29 0.21 rs2956114 COSM4145673 2(thyroid) Benign Pyruvate_dehydrogenase_complex_deficiency RCV000393521.1 MedGen:Orphanet:SNOMED_CT C0034345:ORPHA765:46683007 . . . . . . 0.035 0.437 D 0.74 0.410 P 0.075 0.268 B 0.384 0.044 N 1 0.243 P 0.345 0.112 N 2.19 0.187 T -0.92 0.247 N 0.048 0.029 -0.944 0.419 T 0.000 0.000 T . . . 3.373 0.464 22.9 0.993 0.596 0.065 0.124 N c -0.705 -0.756 1.000 0.747 0.442 0.072 0 2.5 0.292 0.267 0.182 -0.018 0.130 0.009 0.180 0.001 0.043 10.852 0.458 . ENSG00000110435.7|ENSG00000149089.8|ENSG00000110435.7|ENSG00000149089.8|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000149089.8|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000110435.7|ENSG00000149089.8|ENSG00000149089.8 Adrenal_Gland|Brain_Cortex|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.4051 0.2531 0.4063 0.4152 0.7508 0.3982 0.3487 0.3901 0.4787 0.3594 0.2595 0.4175 0.4272 0.7447 0.4114 0.3562 0.4041 het 351.88 20 11 34937813 . G A 351.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.736;DP=20;Dels=0.00;FS=4.481;HRun=1;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-0.810;QD=17.59;ReadPosRankSum=-0.887;VQSLOD=5.5770;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:382,0,174 11 34938265 34938265 C T exonic PDHX synonymous SNV PDHX:NM_001166158:exon1:c.C63T:p.P21P,PDHX:NM_003477:exon1:c.C63T:p.P21P 0.76 0.77 0.67 0.82 0.8 0.73 0.7744 0.7834 0.5922 0.8473 0.7774 0.8024 0.7972 0.7425 0.8 0.79 0.8 0.73 0.65 rs2956109 . . Benign|Benign Pyruvate_dehydrogenase_complex_deficiency|not_specified RCV000335880.1|RCV000376293.1 MedGen:Orphanet:SNOMED_CT|MedGen C0034345:ORPHA765:46683007|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7685 0.7846 0.6150 0.8338 0.8474 0.7737 0.8004 0.7665 0.7446 0.7895 0.7836 0.6623 0.8146 0.8391 0.7749 0.7976 0.7889 hom 1037 33 11 34938265 . C T 1037 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.42;VQSLOD=13.5857;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:87.26:1070,87,0 11 34969112 34969112 A G exonic PDHX nonsynonymous SNV PDHX:NM_001135024:exon3:c.A256G:p.T86A,PDHX:NM_001166158:exon3:c.A301G:p.T101A,PDHX:NM_003477:exon3:c.A301G:p.T101A 0.11 0.026 0.15 . 0.32 0.086 0.2197 0.0743 0.1083 0.0007 0.2424 0.3111 0.2357 0.1248 0.24 0.086 0.32 0.11 0.32 rs11539202 COSM5003861;COSM3752346 1(pancreas);1(large_intestine) Benign Pyruvate_dehydrogenase_complex_deficiency RCV000361091.1 MedGen:Orphanet:SNOMED_CT C0034345:ORPHA765:46683007 . . . . . . 0.416 0.186 T 0.999 0.764 D 0.996 0.832 D 0.000 0.629 D 0.001 0.503 P 0.165 0.090 N 2.0 0.215 T -2.49 0.542 N 0.232 0.701 -0.914 0.464 T 0.000 0.000 T . . . 3.856 0.520 23.5 0.996 0.712 0.968 0.707 D c 0.142 0.273 0.998 0.370 0.732 0.924 0 4.93 0.643 8.273 0.897 1.199 0.960 1.000 0.715 0.986 0.517 11.872 0.516 2-oxo acid dehydrogenase\x2c lipoyl-binding site|Biotin/lipoyl attachment|Single hybrid motif ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8|ENSG00000149089.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.2191 0.0705 0.1215 0.2313 0.0006 0.2486 0.3201 0.2378 0.1268 0.2134 0.0721 0.1451 0.2252 0.0006 0.2392 0.3144 0.2423 het 1822.85 161 11 34969112 . A G 1822.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.858;DP=161;Dels=0.00;FS=3.652;HRun=0;HaplotypeScore=1.9463;MQ=58.85;MQ0=0;MQRankSum=-0.453;QD=11.32;ReadPosRankSum=0.853;VQSLOD=6.0174;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,74:161:99:1853,0,1975 11 34991727 34991727 T C exonic PDHX synonymous SNV PDHX:NM_001135024:exon7:c.T813C:p.V271V,PDHX:NM_003477:exon7:c.T858C:p.V286V 0.57 0.32 0.56 0.74 0.71 0.61 0.6438 0.3778 0.5109 0.7547 0.6777 0.6995 0.6300 0.6084 0.6 0.39 0.7 0.47 0.67 rs497582 COSM4145675;COSM4145674 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(thyroid) Benign Pyruvate_dehydrogenase_complex_deficiency RCV000344720.1 MedGen:Orphanet:SNOMED_CT C0034345:ORPHA765:46683007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6467 0.3773 0.5258 0.6673 0.7595 0.6827 0.7033 0.6567 0.6099 0.6088 0.3835 0.5598 0.6722 0.7537 0.6838 0.7040 0.6724 hom 1942.13 65 11 34991727 . T C 1942.13 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=58.09;MQ0=0;QD=29.88;VQSLOD=8.5949;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1975,150,0 11 35222681 35222681 C T exonic CD44 synonymous SNV CD44:NM_001001389:exon7:c.C846T:p.T282T,CD44:NM_000610:exon8:c.C975T:p.T325T 0.027 0.017 0.049 . 0.069 0.012 0.0494 0.0218 0.0316 0.0001 0.1112 0.0664 0.0430 0.0121 0.046 0.022 0.059 0.011 0.033 rs35356320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0496 0.0218 0.0316 0.0651 5.8e-05 0.1094 0.0629 0.0589 0.0125 0.0510 0.0223 0.0372 0.0596 0.0006 0.1079 0.0599 0.0591 het 2280.13 222 11 35222681 . C T 2280.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.244;DP=222;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3417;MQ=58.57;MQ0=0;MQRankSum=0.162;QD=10.27;ReadPosRankSum=-0.912;VQSLOD=5.6543;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:124,98:222:99:2310,0,3337 11 35226155 35226155 A G exonic CD44 nonsynonymous SNV CD44:NM_001001389:exon9:c.A1121G:p.K374R,CD44:NM_000610:exon10:c.A1250G:p.K417R 0.83 0.92 0.69 0.93 0.68 0.86 0.7478 0.8741 0.6847 0.9319 0.7455 0.6970 0.7390 0.8225 0.75 0.87 0.69 0.84 0.77 rs9666607 COSM5904945 1(skin) . . . . . . . . . . . 0.942 0.029 T 0.0 0.026 B 0.002 0.063 B 0.624 0.107 N 1 0.508 P 0.235 0.097 N 2.3 0.170 T -0.03 0.105 N 0.007 0.249 -1.010 0.269 T 0.000 0.000 T . . . -0.493 0.056 0.228 0.577 0.057 0.060 0.118 N c -1.097 -1.045 0.998 0.368 0.615 0.372 0 1.86 0.244 0.466 0.216 -0.912 0.026 0.135 0.232 0.027 0.143 7.287 0.254 . . . 0.7410 0.8815 0.6831 0.7677 0.9262 0.7342 0.6884 0.7301 0.8196 0.7558 0.8781 0.7045 0.7483 0.9244 0.7320 0.6779 0.7133 hom 3354.33 106 11 35226155 . A G 3354.33 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7620;MQ=59.39;MQ0=0;QD=31.64;VQSLOD=9.5748;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3354,259,0 11 35229673 35229673 T C exonic CD44 nonsynonymous SNV CD44:NM_001001390:exon6:c.T689C:p.I230T,CD44:NM_001001389:exon11:c.T1307C:p.I436T,CD44:NM_000610:exon12:c.T1436C:p.I479T 0.94 0.99 0.89 1. 0.81 0.97 0.8807 0.9646 0.9384 0.9999 0.8487 0.8273 0.8877 0.9532 0.86 0.96 0.81 0.92 0.85 rs1467558 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.340 N 1.000 0.588 P -1.79 0.003 N 1.6 0.286 T 2.48 0.002 N 0.072 0.373 -0.948 0.414 T 0.000 0.000 T . . . -0.105 0.084 1.696 0.679 0.082 0.019 0.057 N c -0.503 -0.335 1.000 0.747 0.615 0.372 0 6.16 0.993 2.133 0.415 0.069 0.176 0.896 0.311 0.001 0.043 11.807 0.513 . ENSG00000255004.1 Thyroid 0.8803 0.9691 0.9307 0.9153 0.9999 0.8449 0.8184 0.8802 0.9531 0.8740 0.9645 0.9272 0.9172 1 0.8403 0.8132 0.8513 hom 3220.76 110 11 35229673 . T C 3220.76 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;QD=29.28;VQSLOD=8.3214;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3254,247,0 11 35308369 35308369 T C exonic SLC1A2 synonymous SNV SLC1A2:NM_004171:exon8:c.A1221G:p.V407V,SLC1A2:NM_001195728:exon9:c.A1194G:p.V398V,SLC1A2:NM_001252652:exon9:c.A1194G:p.V398V 0.23 0.33 0.25 0.19 0.26 0.096 0.2400 0.2765 0.3106 0.2047 0.3253 0.2502 0.2390 0.1108 0.25 0.28 0.24 0.25 0.2 rs1042113 COSM3752347 1(breast);4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2445 0.2830 0.3086 0.2110 0.2047 0.3228 0.2493 0.2625 0.1114 0.2630 0.2695 0.3031 0.22 0.1865 0.3214 0.2524 0.2623 het 4069.20 235 11 35308369 . T C 4069.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.337;DP=235;Dels=0.00;FS=6.824;HRun=1;HaplotypeScore=7.1970;MQ=59.03;MQ0=0;MQRankSum=-0.701;QD=17.32;ReadPosRankSum=0.414;VQSLOD=3.8928;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:110,125:235:99:3473,0,2962 11 35327748 35327748 C T exonic SLC1A2 synonymous SNV SLC1A2:NM_004171:exon5:c.G603A:p.P201P,SLC1A2:NM_001195728:exon6:c.G576A:p.P192P,SLC1A2:NM_001252652:exon6:c.G576A:p.P192P 0.18 0.14 0.25 0.19 0.26 0.092 0.2268 0.1369 0.2994 0.2096 0.3262 0.2518 0.2291 0.1006 0.21 0.14 0.24 0.18 0.2 rs752949 COSM3752348 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2338 0.1388 0.2969 0.2116 0.2107 0.3235 0.2508 0.2560 0.1022 0.2252 0.1352 0.2900 0.2219 0.1912 0.3218 0.2536 0.2510 het 1839.23 132 11 35327748 . C T 1839.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.657;DP=132;Dels=0.00;FS=7.642;HRun=0;HaplotypeScore=3.5520;MQ=58.24;MQ0=0;MQRankSum=-0.813;QD=13.93;ReadPosRankSum=-0.090;VQSLOD=4.5183;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,64:132:99:1869,0,1611 11 36422792 36422792 G A exonic PRR5L nonsynonymous SNV PRR5L:NM_001160169:exon1:c.G121A:p.A41T,PRR5L:NM_001160167:exon2:c.G121A:p.A41T,PRR5L:NM_024841:exon3:c.G121A:p.A41T 0.83 0.58 0.93 0.97 0.91 0.89 0.8907 0.6370 0.9619 0.9582 0.8739 0.9098 0.8960 0.8930 0.82 0.64 0.91 0.8 0.89 rs330261 . . . . . . . . . . . . . 0.311 0.153 T 0.001 0.067 B 0.001 0.063 B 0.057 0.225 N 1 0.090 P 0.46 0.130 N 1.45 0.325 T -0.74 0.328 N 0.14 0.239 -0.955 0.401 T 0.000 0.000 T . . . -0.481 0.057 0.245 0.885 0.174 0.039 0.091 N c -1.499 -1.544 1.000 0.409 0.615 0.372 0 -3.34 0.046 -0.349 0.077 -1.029 0.021 0.000 0.063 0.018 0.130 16.527 0.841 . . . 0.8978 0.6269 0.9516 0.9309 0.9591 0.8803 0.9096 0.9105 0.8955 0.8283 0.6274 0.9511 0.9367 0.9591 0.8818 0.9053 0.8938 hom 3133.17 105 11 36422792 . G A 3133.17 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8737;MQ=60.00;MQ0=0;QD=29.84;VQSLOD=8.5105;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:105:99:3166,256,0 11 36484167 36484167 C T exonic PRR5L nonsynonymous SNV PRR5L:NM_001160168:exon6:c.C604T:p.P202S,PRR5L:NM_001160167:exon9:c.C988T:p.P330S,PRR5L:NM_024841:exon10:c.C988T:p.P330S 0.041 0.034 0.071 0.001 0.072 0.038 0.0626 0.0347 0.0446 0.0004 0.1142 0.0805 0.0719 0.0331 0.06 0.034 0.074 0.011 0.016 rs11033639 . . . . . . . . . . . . . 0.336 0.129 T 0.0 0.026 B 0.0 0.013 B 0.388 0.133 N 0.977 0.253 P -0.29 0.037 N 2.04 0.208 T -0.65 0.189 N 0.079 0.123 -0.966 0.381 T 0.001 0.002 T . . . -0.349 0.065 0.511 0.664 0.078 0.062 0.120 N c -0.994 -0.931 0.999 0.378 0.706 0.609 0 -1.75 0.076 -0.269 0.086 0.065 0.171 0.006 0.172 0.089 0.185 5.574 0.164 . . . 0.0634 0.0346 0.0455 0.0627 0.0003 0.1184 0.0796 0.0743 0.0332 0.0601 0.0333 0.0477 0.0629 0.0006 0.1126 0.0696 0.0735 het 503.39 52 11 36484167 . C T 503.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.396;DP=52;Dels=0.00;FS=8.561;HRun=0;HaplotypeScore=2.7196;MQ=60.00;MQ0=0;MQRankSum=0.318;QD=9.68;ReadPosRankSum=1.418;VQSLOD=4.0968;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,20:52:99:533,0,929 11 36484208 36484208 T C exonic PRR5L synonymous SNV PRR5L:NM_001160168:exon6:c.T645C:p.T215T,PRR5L:NM_001160167:exon9:c.T1029C:p.T343T,PRR5L:NM_024841:exon10:c.T1029C:p.T343T 0.99 0.98 1. 1. 1. 1. 0.9982 0.9820 0.9985 0.9998 1 0.9998 1 1 1. 0.99 1. 1. 0.97 rs514352 COSM4145679 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9985 0.9813 0.9987 0.9981 0.9996 1 0.9999 0.9989 1 0.9949 0.9833 0.9976 1 0.9981 1 0.9997 0.9980 hom 1635.92 51 11 36484208 . T C 1635.92 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=32.08;VQSLOD=8.8907;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1669,138,0 11 36595600 36595600 A G exonic RAG1 nonsynonymous SNV RAG1:NM_000448:exon2:c.A746G:p.H249R 0.61 0.77 0.61 0.76 0.36 0.52 0.4470 0.7251 0.6958 0.7808 0.2874 0.3284 0.3841 0.4695 0.47 0.73 0.34 0.59 0.39 rs3740955 . . Pathogenic not_provided RCV000389898.1 MedGen CN221809 . . . . . . 0.21 0.196 T 0.0 0.026 B 0.0 0.013 B 0.235 0.035 N 1 0.090 P -0.29 0.037 N 1.23 0.369 T 0.5 0.030 N 0.018 0.055 -0.923 0.452 T 0.000 0.000 T . . . -2.964 0.001 0.001 0.506 0.043 0.004 0.020 N c -1.354 -1.357 1.000 0.473 0.554 0.246 0 -1.98 0.070 -0.074 0.113 -1.975 0.005 0.000 0.063 0.000 0.016 10.230 0.422 . . . 0.4486 0.7367 0.6757 0.3655 0.7732 0.2897 0.3256 0.4157 0.4670 0.4742 0.7340 0.6277 0.3311 0.7859 0.2871 0.3328 0.3921 het 1721.31 144 11 36595600 . A G 1721.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.480;DP=144;Dels=0.00;FS=4.057;HRun=0;HaplotypeScore=1.8499;MQ=59.44;MQ0=0;MQRankSum=-0.884;QD=11.95;ReadPosRankSum=-1.405;VQSLOD=5.7734;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,66:144:99:1751,0,2163 11 36597734 36597734 A G exonic RAG1 synonymous SNV RAG1:NM_000448:exon2:c.A2880G:p.A960A 0.062 0.085 0.068 0.005 0.087 0.062 0.0678 0.0816 0.0437 0.0016 0.0709 0.0797 0.0713 0.0615 0.079 0.074 0.081 0.033 0.066 rs1980131 COSM3752353 1(thyroid);1(large_intestine) Benign|Likely benign|Likely benign not_specified|Severe_Combined_Immune_Deficiency|Histiocytic_medullary_reticulosis RCV000250266.1|RCV000297247.1|RCV000370544.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT CN169374|CN239264|C1801959:603554:307650006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0655 0.0774 0.0480 0.0792 0.0014 0.0678 0.0785 0.0726 0.0603 0.0780 0.0814 0.0597 0.0795 0.0025 0.0693 0.0865 0.0866 het 1138.26 95 11 36597734 . A G 1138.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.860;DP=95;Dels=0.00;FS=10.282;HRun=0;HaplotypeScore=1.8455;MQ=59.21;MQ0=0;MQRankSum=0.008;QD=11.98;ReadPosRankSum=0.144;VQSLOD=4.5785;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,49:95:99:1168,0,1193 11 40137543 40137543 T C exonic LRRC4C synonymous SNV LRRC4C:NM_020929:exon5:c.A300G:p.R100R,LRRC4C:NM_001258419:exon7:c.A300G:p.R100R 0.5 0.7 0.51 0.61 0.37 0.24 0.4299 0.6590 0.5057 0.6243 0.3102 0.4088 0.4272 0.2647 0.5 0.66 0.41 0.53 0.47 rs2953310 COSM147178 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4293 0.6654 0.5042 0.4758 0.6139 0.3200 0.4064 0.4379 0.2726 0.4701 0.6583 0.4868 0.4934 0.6196 0.3052 0.3883 0.3689 het 1329.90 116 11 40137543 . T C 1329.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.169;DP=116;Dels=0.00;FS=2.626;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=-0.616;QD=11.46;ReadPosRankSum=-0.761;VQSLOD=6.4138;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,50:116:99:1360,0,1703 11 43876698 43876698 C T exonic HSD17B12 nonsynonymous SNV HSD17B12:NM_016142:exon11:c.C839T:p.S280L 0.36 0.42 0.46 0.26 0.32 0.34 0.3328 0.4194 0.4972 0.2425 0.3103 0.3091 0.3185 0.3156 0.35 0.42 0.31 0.32 0.34 rs11555762 COSM3752362 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.718 0.039 T 0.002 0.090 B 0.001 0.040 B 0.088 0.024 N 1 0.090 P 0.675 0.164 N 0.89 0.456 T 0.27 0.043 N 0.136 0.157 -0.966 0.381 T 0.000 0.000 T . . . -0.447 0.059 0.298 0.651 0.075 0.070 0.129 N c -1.662 -1.618 0.000 0.050 0.707 0.730 0 0.382 0.154 0.904 0.279 -0.489 0.052 0.001 0.137 0.002 0.062 7.799 0.282 NAD(P)-binding domain ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000149084.7|ENSG00000149084.7|ENSG00000149084.7|ENSG00000149084.7|ENSG00000149084.7|ENSG00000149084.7|ENSG00000149084.7|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000149084.7|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000149084.7|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000246250.2|ENSG00000149084.7|ENSG00000149084.7|ENSG00000246250.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood 0.3377 0.4159 0.4952 0.3821 0.2493 0.3031 0.3054 0.3332 0.3090 0.3333 0.4258 0.4558 0.3675 0.2602 0.3020 0.2887 0.3084 het 1720.45 113 11 43876698 . C T 1720.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.194;DP=113;Dels=0.00;FS=0.802;HRun=1;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-0.269;QD=15.23;ReadPosRankSum=-2.061;VQSLOD=5.6741;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,63:113:99:1750,0,1268 11 43911365 43911365 T C exonic ALKBH3 synonymous SNV ALKBH3:NM_139178:exon6:c.T357C:p.T119T 1. 0.99 1. 1. 1. 1. 0.9990 0.9884 0.9999 1 0.9998 1 1 1 1. 0.99 1. 1. 1. rs2434478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9992 0.9883 0.9999 1 1 0.9997 1 0.9995 1.0000 0.9968 0.9888 1 1 1 1 1 1 hom 4330.45 155 11 43911365 . T C 4330.45 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=59.84;MQ0=0;QD=27.94;VQSLOD=6.7936;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4329,349,0 11 43940602 43940602 C G exonic ALKBH3 nonsynonymous SNV ALKBH3:NM_139178:exon9:c.C684G:p.D228E 0.14 0.08 0.14 0.093 0.26 0.14 0.1985 0.0993 0.1033 0.0752 0.2265 0.2551 0.2037 0.1520 0.21 0.098 0.26 0.2 0.26 rs1130290 COSM1127789 1(prostate);1(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.898 0.475 P 0.779 0.554 P 0.000 0.843 D 0.000 0.520 P 2.36 0.681 M 2.58 0.134 T -2.54 0.550 D 0.221 0.271 -1.210 0.001 T 0.000 0.000 T . . . 6.838 0.927 33 0.997 0.812 0.951 0.633 D c 0.421 0.497 1.000 0.747 0.706 0.609 0 5.91 0.952 2.086 0.410 0.935 0.490 1.000 0.715 0.988 0.529 15.799 0.781 Alpha-ketoglutarate-dependent dioxygenase AlkB-like|Oxoglutarate/iron-dependent dioxygenase ENSG00000166199.8 Testis 0.1967 0.0955 0.1094 0.1970 0.0739 0.2301 0.2615 0.1988 0.1511 0.1951 0.0947 0.0990 0.2351 0.0833 0.2284 0.2621 0.1990 het 2962.20 250 11 43940602 . C G 2962.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.664;DP=250;DS;Dels=0.00;FS=4.068;HRun=0;HaplotypeScore=5.6992;MQ=58.94;MQ0=0;MQRankSum=0.364;QD=11.85;ReadPosRankSum=-0.678;VQSLOD=4.7673;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,116:250:99:2992,0,3843 11 44080210 44080210 T C exonic ACCSL nonsynonymous SNV ACCSL:NM_001031854:exon13:c.T1585C:p.C529R 0.79 0.9 0.59 0.84 0.78 0.77 0.7549 0.8657 0.5627 0.8551 0.7710 0.7586 0.7422 0.7508 0.79 0.86 0.76 0.81 0.69 rs2074051 COSM5617741 1(breast) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.141 0.353 P -2.875 0.000 N 3.87 0.036 T 7.02 0.000 N 0.129 0.147 -0.973 0.365 T 0.000 0.000 T . . . -1.744 0.012 0.002 0.144 0.003 0.027 0.072 N c -1.823 -1.545 0.001 0.083 0.554 0.246 0 1.53 0.221 0.263 0.181 -2.004 0.005 0.990 0.367 0.757 0.323 13.578 0.612 Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.7445 0.8691 0.5702 0.7296 0.8507 0.7753 0.7596 0.7143 0.7462 0.7933 0.8660 0.5871 0.7450 0.8631 0.7749 0.7622 0.7638 hom 3883.70 133 11 44080210 . T C 3883.70 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;QD=29.20;VQSLOD=8.3991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3883,319,0 11 44089352 44089352 G A exonic ACCS nonsynonymous SNV ACCS:NM_001127219:exon2:c.G175A:p.D59N,ACCS:NM_032592:exon2:c.G175A:p.D59N 0.27 0.48 0.098 0.31 0.16 0.17 0.1831 0.4429 0.0924 0.3109 0.1034 0.1475 0.1821 0.1920 0.24 0.43 0.15 0.37 0.2 rs33952257 . . . . . . . . . . . . . 0.343 0.160 T 0.023 0.176 B 0.012 0.149 B 0.388 0.045 N 1 0.090 P 0.895 0.225 L 0.98 0.599 T -1.7 0.677 N 0.004 0.024 -0.978 0.355 T 0.000 0.000 T . . . 0.409 0.133 6.696 0.962 0.284 0.032 0.081 N c -1.043 -1.013 1.000 0.473 0.677 0.550 0 -0.447 0.116 0.202 0.170 0.100 0.199 0.000 0.063 0.430 0.259 8.032 0.295 . ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000255165.1|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000151348.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000151348.9|ENSG00000110455.9|ENSG00000255165.1|ENSG00000151348.9|ENSG00000110455.9|ENSG00000151348.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1747 0.4451 0.0939 0.2621 0.3096 0.1014 0.1429 0.1586 0.1962 0.2352 0.4544 0.1038 0.2483 0.3426 0.1033 0.1399 0.1493 het 1306.13 105 11 44089352 . G A 1306.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.991;DP=105;Dels=0.00;FS=6.326;HRun=1;HaplotypeScore=4.2173;MQ=58.67;MQ0=0;MQRankSum=-1.459;QD=12.32;ReadPosRankSum=-0.676;VQSLOD=3.9908;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,51:105:99:1336,0,1384 11 44104981 44104981 C T exonic ACCS nonsynonymous SNV ACCS:NM_001127219:exon14:c.C1262T:p.P421L,ACCS:NM_032592:exon14:c.C1262T:p.P421L 0.4 0.41 0.3 0.47 0.46 0.35 0.3963 0.4155 0.2293 0.4662 0.4369 0.4212 0.4124 0.3470 0.42 0.42 0.41 0.49 0.42 rs3107275 COSM4418754 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.322 0.135 T 0.018 0.165 B 0.026 0.195 B 0.116 0.192 N 1 0.090 P 0.895 0.225 L 2.11 0.199 T -2.19 0.493 N 0.066 0.188 -0.923 0.451 T 0.000 0.000 T . . . 1.471 0.239 13.16 0.658 0.077 0.315 0.241 N c -0.995 -0.959 0.817 0.244 0.706 0.609 0 0.503 0.161 0.657 0.245 -0.441 0.057 0.001 0.137 0.435 0.260 15.560 0.759 Aminotransferase\x2c class I/classII|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000110455.9|ENSG00000151348.9|ENSG00000110455.9|ENSG00000110455.9 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.3905 0.4176 0.2449 0.4845 0.4639 0.4374 0.4126 0.4023 0.3487 0.4308 0.4315 0.2673 0.5302 0.4926 0.4628 0.4220 0.4530 het 699.62 62 11 44104981 . C T 699.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.894;DP=62;Dels=0.00;FS=3.541;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;MQRankSum=0.327;QD=11.28;ReadPosRankSum=0.298;VQSLOD=6.5306;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,27:62:99:730,0,947 11 44286566 44286566 G A exonic ALX4 synonymous SNV ALX4:NM_021926:exon4:c.C1074T:p.H358H 0.36 0.12 0.52 0.53 0.33 0.41 0.3618 0.1612 0.5899 0.5542 0.3491 0.3215 0.3562 0.3907 0.27 0.17 0.33 0.32 0.24 rs3802805 COSM1178421 1(prostate);1(large_intestine) Benign Enlarged_parietal_foramina RCV000363369.1 MedGen CN236382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3735 0.1549 0.5708 0.2279 0.5498 0.3491 0.3297 0.3658 0.3907 0.2993 0.1645 0.5358 0.2086 0.5414 0.3327 0.3303 0.3299 het 698.59 72 11 44286566 . G A 698.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.113;DP=72;Dels=0.00;FS=2.198;HRun=0;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;MQRankSum=-0.361;QD=9.70;ReadPosRankSum=-0.148;VQSLOD=6.0520;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,27:72:99:729,0,1269 11 44297054 44297054 T C exonic ALX4 synonymous SNV ALX4:NM_021926:exon2:c.A621G:p.S207S 0.99 0.97 1. 1. 1. 1. 0.9975 0.9728 0.9995 0.9999 1 0.9999 1 0.9997 0.99 0.97 1. 0.99 1. rs10769028 COSM4145711 1(thyroid) Benign Enlarged_parietal_foramina RCV000323653.1 MedGen CN236382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9716 0.9990 1 0.9999 1 0.9999 0.9993 0.9996 0.9922 0.9732 0.9988 1 1 1 0.9996 1 hom 7092.92 228 11 44297054 . T C 7092.92 Mask AC=2;AF=1.00;AN=2;DP=228;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5931;MQ=59.00;MQ0=0;QD=31.11;VQSLOD=6.9262;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,228:228:99:7091,599,0 11 44331509 44331509 C G exonic ALX4 nonsynonymous SNV ALX4:NM_021926:exon1:c.G104C:p.R35T 0.47 0.24 0.38 0.51 0.47 0.81 0.5914 0.3730 0.5164 0.5897 0.5895 0.5723 0.5535 0.7794 0.42 0.3 0.49 0.47 0.32 rs3824915 COSM3752366 1(thyroid);1(large_intestine) Benign Enlarged_parietal_foramina RCV000352665.1 MedGen CN236382 . . . . . . 0.0 0.912 D 0.437 0.340 B 0.115 0.303 B 0.000 0.843 D 0.000 0.588 P 2.08 0.576 M -4.01 0.964 D -1.64 0.393 N 0.266 0.335 -1.149 0.011 T 0.000 0.000 T . . . 6.170 0.851 28.5 0.979 0.361 0.990 0.893 D c 0.114 0.235 1.0 0.983 0.598 0.340 0 4.61 0.566 5.795 0.685 0.838 0.341 1.000 0.715 0.962 0.444 17.476 0.875 . ENSG00000052850.5|ENSG00000052850.5 Adipose_Subcutaneous|Artery_Tibial 0.5065 0.2939 0.4034 0.5603 0.5262 0.4595 0.4922 0.4815 0.7685 0.4297 0.3030 0.4113 0.5298 0.5409 0.4513 0.4813 0.4949 het 117.99 10 11 44331509 . C G 117.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.098;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.676;QD=11.80;ReadPosRankSum=0.336;VQSLOD=11.3409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:148,0,126 11 44640268 44640268 A G exonic CD82 nonsynonymous SNV CD82:NM_001024844:exon8:c.A646G:p.I216V,CD82:NM_002231:exon9:c.A721G:p.I241V 0.59 0.39 0.63 0.5 0.66 0.84 0.6427 0.4181 0.6352 0.4885 0.6554 0.6602 0.6480 0.7938 0.59 0.42 0.67 0.51 0.42 rs1139971 COSM3752367 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.248 0.172 T 0.04 0.198 B 0.057 0.248 B 0.095 0.201 N 0.000 0.810 P 1.115 0.288 L -1.35 0.800 T -0.44 0.146 N 0.055 0.037 -0.920 0.456 T 0.000 0.000 T . . . -0.081 0.086 1.877 0.862 0.158 0.409 0.263 N c -0.764 -0.724 0.998 0.369 0.706 0.609 0 0.664 0.170 1.153 0.311 0.085 0.192 0.972 0.342 0.064 0.173 6.158 0.194 Tetraspanin\x2c EC2 domain ENSG00000244267.1 Esophagus_Muscularis 0.6454 0.4100 0.6327 0.6585 0.4856 0.6442 0.6663 0.6405 0.7874 0.5781 0.4130 0.6244 0.6367 0.4664 0.6317 0.6681 0.6095 hom 1417.11 42 11 44640268 . A G 1417.11 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.74;VQSLOD=14.5023;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1450,120,0 11 45203848 45203848 G A exonic PRDM11 synonymous SNV PRDM11:NM_001256695:exon3:c.G171A:p.K57K,PRDM11:NM_001256696:exon3:c.G171A:p.K57K 0.13 0.26 0.12 . 0.13 0.069 0.1133 0.2261 0.0731 0.0008 0.1192 0.1224 0.1425 0.0892 0.15 0.21 0.12 0.18 0.082 rs1078931 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1110 0.2235 0.0841 0.1108 0.0002 0.1178 0.1239 0.1295 0.0923 0.1425 0.2198 0.1050 0.1093 0.0006 0.1263 0.1214 0.1130 het 1390.31 90 11 45203848 . G A 1390.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DP=90;Dels=0.00;FS=5.387;HRun=2;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=-0.625;QD=15.45;ReadPosRankSum=-1.050;VQSLOD=5.4761;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,52:90:99:1420,0,1004 11 45672261 45672261 A G exonic CHST1 synonymous SNV CHST1:NM_003654:exon4:c.T213C:p.S71S 0.69 0.4 0.78 0.67 0.83 0.88 0.8009 0.4371 0.8415 0.6804 0.7748 0.8466 0.8234 0.8889 0.72 0.45 0.85 0.65 0.83 rs3802762 COSM4145716 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8096 0.4308 0.8404 0.8856 0.6833 0.7726 0.8495 0.8310 0.8889 0.7149 0.4250 0.8425 0.8940 0.7007 0.7688 0.8545 0.8153 hom 2820.56 94 11 45672261 . A G 2820.56 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6018;MQ=59.74;MQ0=0;QD=30.01;VQSLOD=8.1030;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2854,241,0 11 45935384 45935384 A G exonic PEX16 synonymous SNV PEX16:NM_004813:exon9:c.T873C:p.Y291Y,PEX16:NM_057174:exon9:c.T873C:p.Y291Y 0.69 0.56 0.66 0.47 0.92 0.87 0.8155 0.5907 0.5555 0.4318 0.9490 0.9175 0.8527 0.8722 0.81 0.6 0.92 0.69 0.83 rs1132349 COSM4145722;COSM4145721 1(thyroid) Benign|Benign not_specified|Zellweger_syndrome RCV000248969.1|RCV000389065.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043459:214100:ORPHA912:88469006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8108 0.5883 0.5729 0.8709 0.4394 0.9455 0.9209 0.8452 0.8691 0.7980 0.5807 0.6158 0.8543 0.4647 0.9490 0.9281 0.8878 hom 2085.14 71 11 45935384 . A G 2085.14 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.22;MQ0=0;QD=29.37;VQSLOD=8.0532;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2118,177,0 11 45937267 45937267 C T exonic PEX16 nonsynonymous SNV PEX16:NM_004813:exon4:c.G346A:p.V116I,PEX16:NM_057174:exon4:c.G346A:p.V116I 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs10742772 COSM4591324;COSM4591325 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.004 0.093 B 0.000 0.843 N 0.998 0.221 P -2.015 0.002 N 2.31 0.168 T 0.5 0.030 N 0.224 0.301 -0.960 0.393 T 0.000 0.000 T . . . 2.038 0.306 16.46 0.365 0.023 0.260 0.227 N c -0.828 -0.507 1.000 0.747 0.707 0.730 0 5.29 0.743 3.323 0.515 0.154 0.240 1.000 0.715 0.998 0.697 10.901 0.461 . . . 1.0000 0.9999 1 1 1 1 1 1 1 0.9999 0.9998 1 1 1 1 1 1 hom 7945.22 250 11 45937267 . C T 7945.22 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8093;MQ=59.11;MQ0=0;QD=31.78;VQSLOD=7.3195;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7944,653,0 11 45949534 45949534 C T exonic LARGE2 synonymous SNV LARGE2:NM_001300721:exon12:c.C1668T:p.F556F,LARGE2:NM_152312:exon12:c.C1668T:p.F556F,LARGE2:NM_001300722:exon13:c.C1575T:p.F525F 0.58 0.34 0.63 0.4 0.9 0.74 0.7542 0.3889 0.5127 0.3744 0.9050 0.8895 0.7991 0.7429 0.73 0.4 0.89 0.55 0.78 rs939105 COSM3998411 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7537 0.3817 0.5324 0.8404 0.3818 0.9018 0.8932 0.7969 0.7405 0.7190 0.3894 0.5859 0.8311 0.4155 0.9018 0.8983 0.8282 hom 2866.80 86 11 45949534 . C T 2866.80 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8598;MQ=58.58;MQ0=0;QD=33.33;VQSLOD=9.2903;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2900,226,0 11 46387868 46387868 A G exonic DGKZ nonsynonymous SNV DGKZ:NM_001105540:exon2:c.A62G:p.Q21R 0.44 0.91 0.25 0.15 0.31 0.35 0.3681 0.8185 0.2658 0.2104 0.2186 0.3429 0.3641 0.4068 0.42 0.74 0.28 0.55 0.14 rs1317826 COSM4145732 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.058 0.224 N 1.000 0.810 P -1.95 0.002 N -0.09 0.641 T 1.01 0.014 N 0.028 0.009 -0.954 0.404 T 0.000 0.000 T . . . -0.211 0.075 1.042 0.158 0.004 0.054 0.111 N c -0.816 -0.609 1.000 0.747 0.672 0.522 0 4.53 0.548 2.112 0.413 0.067 0.174 1.000 0.715 0.067 0.174 13.060 0.582 . ENSG00000110492.11|ENSG00000180720.6|ENSG00000175224.12|ENSG00000149179.9|ENSG00000271350.1 Artery_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.3006 0.8171 0.2106 0.3612 0.1633 0.1592 0.2879 0.3118 0.3296 0.4117 0.8141 0.2613 0.3775 0.1673 0.1723 0.2791 0.2669 het 124.54 19 11 46387868 . A G 124.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.184;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=57.67;MQ0=0;MQRankSum=1.184;QD=6.55;ReadPosRankSum=-0.570;VQSLOD=5.0063;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:155,0,375 11 46406767 46406767 G A exonic CHRM4 synonymous SNV CHRM4:NM_000741:exon1:c.C1341T:p.T447T 0.11 0.11 0.081 0.051 0.17 0.14 0.1382 0.1105 0.0600 0.0584 0.1172 0.1650 0.1496 0.1519 0.15 0.11 0.17 0.12 . rs2067482 COSM3752372 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1344 0.1083 0.0689 0.1618 0.0572 0.1135 0.1664 0.1500 0.1499 0.1361 0.1067 0.0811 0.1788 0.0593 0.1254 0.1666 0.1291 het 1017.41 93 11 46406767 . G A 1017.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.690;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5769;MQ=59.30;MQ0=0;MQRankSum=-1.532;QD=10.94;ReadPosRankSum=0.618;VQSLOD=5.0787;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,40:93:99:1047,0,1476 11 46702920 46702920 T C exonic ARHGAP1 synonymous SNV ARHGAP1:NM_004308:exon6:c.A459G:p.K153K 1. 1. 1. 1. 1. 1. 0.9997 0.9971 0.9999 1 1 1 1 1 1. 1. 1. 1. 1. rs4268467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9971 0.9999 1 1 1 1 0.9998 1 0.9992 0.9971 0.9988 1 1 1 1 1 hom 6278.82 204 11 46702920 . T C 6278.82 Mask AC=2;AF=1.00;AN=2;DP=204;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.23;MQ0=0;QD=30.78;VQSLOD=9.2029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:6278,487,0 11 46749648 46749648 G A exonic F2 synonymous SNV F2:NM_000506:exon10:c.G1233A:p.P411P,F2:NM_001311257:exon10:c.G1185A:p.P395P 0.04 0.022 0.027 0.001 0.083 0.069 0.0766 0.0394 0.0313 0.0001 0.0924 0.0993 0.0931 0.0727 0.074 0.04 0.092 0.033 0.09 rs5898 COSM4412382 1(oesophagus) Benign|Uncertain significance|Uncertain significance not_specified|Thrombophilia|Hereditary_factor_II_deficiency_disease RCV000247247.1|RCV000294539.1|RCV000351751.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT CN169374|C0398623:188050:234467004|C0272317:33297000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0657 0.0336 0.0323 0.0990 0.0002 0.0707 0.0863 0.0763 0.0647 0.0670 0.0341 0.0347 0.1192 0.0006 0.0778 0.0919 0.0615 het 519.14 40 11 46749648 . G A 519.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.440;DP=40;Dels=0.00;FS=1.271;HRun=0;HaplotypeScore=0.0000;MQ=58.79;MQ0=0;MQRankSum=0.352;QD=12.98;ReadPosRankSum=0.323;VQSLOD=6.3237;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,22:40:99:549,0,430 11 46760913 46760913 C T exonic F2 synonymous SNV F2:NM_000506:exon14:c.C1824T:p.R608R,F2:NM_001311257:exon14:c.C1776T:p.R592R 0.0014 0.0008 . . 0.006 . 0.0053 0.0007 0.0013 0 0.0100 0.0076 0.0055 0.0028 0.0042 0.0011 0.0058 . 0.041 rs3136532 . . Benign not_specified RCV000243833.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0049 0.0007 0.0016 0.0006 0 0.0089 0.0072 0.0040 0.0032 0.0069 0.0009 0.0012 0 0 0.0077 0.0112 0.0102 het 1732.59 131 11 46760913 . C T 1732.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.152;DP=131;Dels=0.00;FS=2.399;HRun=0;HaplotypeScore=8.9718;MQ=59.65;MQ0=0;MQRankSum=1.180;QD=13.23;ReadPosRankSum=-1.498;VQSLOD=3.7876;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,69:131:99:1763,0,1470 11 46784697 46784697 A C exonic CKAP5 synonymous SNV CKAP5:NM_001008938:exon30:c.T3720G:p.G1240G,CKAP5:NM_014756:exon30:c.T3720G:p.G1240G 0.13 0.34 0.049 0.001 0.087 0.07 0.0935 0.3227 0.0371 0.0001 0.0718 0.0889 0.0936 0.0650 0.17 0.31 0.092 0.18 0.11 rs7928445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0867 0.3236 0.0447 0.1003 0.0002 0.0711 0.0880 0.0855 0.0662 0.1493 0.3209 0.0455 0.1225 0 0.0777 0.0930 0.0867 het 2308.97 168 11 46784697 . A C 2308.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.342;DP=168;DS;Dels=0.00;FS=9.026;HRun=2;HaplotypeScore=1.8583;MQ=59.45;MQ0=0;MQRankSum=0.617;QD=13.74;ReadPosRankSum=-0.681;VQSLOD=4.8701;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,88:168:99:2339,0,1926 11 46890165 46890165 C T exonic LRP4 nonsynonymous SNV LRP4:NM_002334:exon33:c.G4937A:p.R1646Q 0.58 0.4 0.65 0.39 0.79 0.76 0.6847 0.4292 0.5213 0.3804 0.6818 0.7788 0.7373 0.7363 0.66 0.44 0.77 0.6 0.71 rs3816614 COSM5763934 1(large_intestine) Benign Syndactyly_Cenani_Lenz_type RCV000313366.1 MedGen:OMIM:Orphanet C1859309:212780:ORPHA3258 . . . . . . 0.204 0.200 T 0.005 0.119 B 0.007 0.121 B 0.024 0.263 N 0.362 0.328 P 1.5 0.380 L -3.82 0.958 D -0.45 0.148 N 0.069 0.056 -0.902 0.478 T 0.000 0.000 T . . . 3.209 0.445 22.7 0.992 0.562 0.263 0.227 N c -0.558 -0.528 0.001 0.081 0.707 0.730 0 2.15 0.265 1.350 0.334 -0.835 0.030 0.992 0.373 0.793 0.334 8.992 0.350 EGF-like domain ENSG00000175220.7|ENSG00000175216.10|ENSG00000175216.10|ENSG00000175216.10|ENSG00000175220.7|ENSG00000134574.7|ENSG00000175220.7|ENSG00000247675.2|ENSG00000175220.7|ENSG00000134569.5|ENSG00000271350.1|ENSG00000134569.5|ENSG00000247675.2|ENSG00000175220.7|ENSG00000134574.7|ENSG00000175220.7|ENSG00000175220.7 Adipose_Subcutaneous|Artery_Aorta|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach 0.6804 0.4282 0.5336 0.8070 0.3785 0.6842 0.7764 0.7339 0.7353 0.6299 0.4301 0.5955 0.7649 0.3798 0.6784 0.7551 0.7162 het 1136.01 89 11 46890165 . C T 1136.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.436;DP=89;Dels=0.00;FS=1.732;HRun=0;HaplotypeScore=0.9993;MQ=58.82;MQ0=0;MQRankSum=0.045;QD=12.76;ReadPosRankSum=1.055;VQSLOD=6.4104;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,43:89:99:1166,0,1200 11 46893108 46893108 T C exonic LRP4 nonsynonymous SNV LRP4:NM_002334:exon31:c.A4660G:p.S1554G 0.37 0.11 0.48 0.26 0.54 0.56 0.4942 0.1907 0.408 0.2449 0.6046 0.5621 0.5557 0.5429 0.43 0.19 0.54 0.34 0.55 rs2306029 COSM4145740 1(thyroid) Benign Syndactyly_Cenani_Lenz_type RCV000262910.1 MedGen:OMIM:Orphanet C1859309:212780:ORPHA3258 . . . . . . 0.032 0.446 D 0.233 0.290 B 0.3 0.393 B 0.000 0.629 D 0.000 0.487 P 1.715 0.445 L -3.81 0.957 D -2.29 0.510 N 0.353 0.414 -1.117 0.025 T 0.000 0.000 T . . . 2.872 0.406 21.7 0.997 0.783 0.984 0.819 D c 0.356 0.479 0.929 0.269 0.707 0.730 0 5.81 0.924 7.417 0.792 1.042 0.661 1.000 0.715 0.999 0.750 12.391 0.545 Six-bladed beta-propeller\x2c TolB-like ENSG00000110492.11|ENSG00000175220.7|ENSG00000247675.2|ENSG00000175220.7|ENSG00000134569.5|ENSG00000271350.1|ENSG00000134569.5|ENSG00000247675.2|ENSG00000175220.7|ENSG00000175220.7|ENSG00000149179.9|ENSG00000271350.1 Artery_Tibial|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis 0.4829 0.1704 0.4072 0.5434 0.2368 0.5872 0.5480 0.5074 0.5259 0.4283 0.1774 0.4231 0.5333 0.2342 0.5785 0.5509 0.5489 het 239.90 25 11 46893108 . T C 239.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.341;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=59.25;MQ0=0;MQRankSum=0.958;QD=9.60;ReadPosRankSum=-0.958;VQSLOD=6.4623;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,11:25:99:270,0,402 11 46898771 46898771 T C exonic LRP4 nonsynonymous SNV LRP4:NM_002334:exon23:c.A3256G:p.I1086V 0.45 0.13 0.57 0.29 0.68 0.71 0.5849 0.2009 0.4769 0.2815 0.6270 0.6766 0.6542 0.6700 0.52 0.22 0.67 0.42 0.66 rs6485702 COSM147182 1(breast);1(stomach);1(haematopoietic_and_lymphoid_tissue);2(prostate);1(large_intestine) Benign Syndactyly_Cenani_Lenz_type RCV000299043.1 MedGen:OMIM:Orphanet C1859309:212780:ORPHA3258 . . . . . . 0.814 0.030 T 0.0 0.026 B 0.002 0.063 B 0.000 0.460 N 0.002 0.447 P 0.2 0.092 N -2.76 0.909 D -0.12 0.088 N 0.085 0.080 -0.910 0.469 T 0.000 0.000 T . . . 0.454 0.138 7.073 0.797 0.124 0.918 0.541 D c -0.375 -0.140 0.016 0.128 0.707 0.730 0 3.91 0.442 2.129 0.414 1.042 0.661 1.000 0.715 1.000 0.888 8.304 0.310 Six-bladed beta-propeller\x2c TolB-like ENSG00000175216.10|ENSG00000110492.11|ENSG00000165912.11|ENSG00000175220.7|ENSG00000175220.7|ENSG00000247675.2|ENSG00000175220.7|ENSG00000134569.5|ENSG00000271350.1|ENSG00000134569.5|ENSG00000247675.2|ENSG00000175220.7|ENSG00000134574.7|ENSG00000175220.7|ENSG00000175220.7|ENSG00000271350.1 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis 0.5881 0.1955 0.4845 0.7310 0.2846 0.6315 0.6729 0.6426 0.6720 0.5056 0.2056 0.5371 0.7020 0.2827 0.6227 0.6617 0.6480 het 2258.13 169 11 46898771 . T C 2258.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.614;DP=169;Dels=0.00;FS=1.896;HRun=0;HaplotypeScore=4.4687;MQ=59.38;MQ0=0;MQRankSum=1.385;QD=13.36;ReadPosRankSum=-0.676;VQSLOD=5.7012;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,90:169:99:2288,0,2195 11 46914583 46914583 T C exonic LRP4 synonymous SNV LRP4:NM_002334:exon13:c.A1638G:p.K546K 0.98 0.94 0.99 1. 0.99 1. 0.9888 0.9634 0.9908 0.9999 0.9971 0.9883 0.9934 0.9963 0.98 0.96 0.99 1. 0.96 rs10838631 . . Benign Syndactyly_Cenani_Lenz_type RCV000336162.1 MedGen:OMIM:Orphanet C1859309:212780:ORPHA3258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9888 0.9638 0.9893 0.9640 1 0.9966 0.9892 0.9845 0.9964 0.9842 0.9658 0.9881 0.9603 1 0.9966 0.9902 0.9908 hom 1691.30 52 11 46914583 . T C 1691.30 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=32.52;VQSLOD=9.4677;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1724,135,0 11 46914598 46914598 A G exonic LRP4 synonymous SNV LRP4:NM_002334:exon13:c.T1623C:p.D541D 0.99 0.98 1. 1. 1. 1. 0.9989 0.9873 0.9997 1 1 1.0000 1 1 1. 0.99 1. 1. 0.92 rs10769215 . . Benign Syndactyly_Cenani_Lenz_type RCV000372135.1 MedGen:OMIM:Orphanet C1859309:212780:ORPHA3258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9874 0.9995 1 1 1 1.0000 0.9995 1 0.9970 0.9892 1 1 1 1 1 1 hom 1837.61 62 11 46914598 . A G 1837.61 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9654;MQ=58.26;MQ0=0;QD=29.64;VQSLOD=8.2924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1871,159,0 11 47188314 47188314 T C exonic ARFGAP2 synonymous SNV ARFGAP2:NM_001242832:exon12:c.A1245G:p.A415A,ARFGAP2:NM_032389:exon13:c.A1329G:p.A443A 1. 1. 1. 1. 1. 1. 0.9996 0.9957 0.9997 1 1 1 1 0.9999 1. 0.99 1. 0.99 1. rs4752820 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9954 0.9999 1 1 1 1 0.9998 1.0000 0.9985 0.9948 0.9976 1 1 1 1 1 hom 8212.12 249 11 47188314 . T C 8212.12 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5573;MQ=59.72;MQ0=0;QD=32.98;VQSLOD=8.4600;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8211,659,0 11 47238522 47238522 T C exonic DDB2 synonymous SNV DDB2:NM_000107:exon3:c.T378C:p.T126T,DDB2:NM_001300734:exon3:c.T378C:p.T126T 0.99 0.98 1. 1. 1. 1. 0.9987 0.9858 0.9997 1 1 1 1 0.9999 1. 0.99 1. 1. 1. rs326212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9858 0.9995 1 1 1 1.0000 0.9995 0.9999 0.9963 0.9869 1 1 1 1 1 1 hom 3224.61 109 11 47238522 . T C 3224.61 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.669;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8808;MQ=59.17;MQ0=0;MQRankSum=1.383;QD=29.58;ReadPosRankSum=-1.319;VQSLOD=7.6203;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,108:109:99:3258,265,0 11 47298360 47298360 G A exonic MADD synonymous SNV MADD:NM_001135943:exon5:c.G1041A:p.E347E,MADD:NM_001135944:exon5:c.G1041A:p.E347E,MADD:NM_003682:exon5:c.G1041A:p.E347E,MADD:NM_130470:exon5:c.G1041A:p.E347E,MADD:NM_130471:exon5:c.G1041A:p.E347E,MADD:NM_130472:exon5:c.G1041A:p.E347E,MADD:NM_130473:exon5:c.G1041A:p.E347E,MADD:NM_130474:exon5:c.G1041A:p.E347E,MADD:NM_130475:exon5:c.G1041A:p.E347E,MADD:NM_130476:exon5:c.G1041A:p.E347E 0.47 0.31 0.64 0.27 0.69 0.54 0.5923 0.3507 0.5411 0.2976 0.5722 0.6916 0.6828 0.5361 0.58 0.36 0.69 0.53 0.73 rs326214 COSM4415741 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5937 0.3476 0.5480 0.7635 0.2970 0.5780 0.6873 0.6596 0.5378 0.5585 0.3699 0.5817 0.7550 0.2954 0.5821 0.6831 0.6002 hom 5933.48 177 11 47298360 . G A 5933.48 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2829;MQ=59.74;MQ0=0;QD=33.52;VQSLOD=9.4092;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5933,478,0 11 47303275 47303275 T C exonic MADD synonymous SNV MADD:NM_001135943:exon8:c.T1440C:p.N480N,MADD:NM_001135944:exon8:c.T1440C:p.N480N,MADD:NM_003682:exon8:c.T1440C:p.N480N,MADD:NM_130470:exon8:c.T1440C:p.N480N,MADD:NM_130471:exon8:c.T1440C:p.N480N,MADD:NM_130472:exon8:c.T1440C:p.N480N,MADD:NM_130473:exon8:c.T1440C:p.N480N,MADD:NM_130474:exon8:c.T1440C:p.N480N,MADD:NM_130475:exon8:c.T1440C:p.N480N,MADD:NM_130476:exon8:c.T1440C:p.N480N 0.3 0.25 0.44 0.25 0.3 0.3 0.3014 0.2401 0.3747 0.2742 0.2648 0.3101 0.3466 0.2798 0.28 0.24 0.31 0.36 0.36 rs326217 COSM4145743 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3034 0.2362 0.3746 0.3733 0.2757 0.2686 0.3024 0.3286 0.2771 0.2789 0.2509 0.3612 0.3576 0.2732 0.2668 0.2922 0.2822 het 727.64 81 11 47303275 . T C 727.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.108;DP=81;Dels=0.00;FS=1.959;HRun=0;HaplotypeScore=3.8574;MQ=58.12;MQ0=0;MQRankSum=0.370;QD=8.98;ReadPosRankSum=-2.975;VQSLOD=3.7167;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,33:81:99:758,0,1253 11 47331116 47331116 T C exonic MADD synonymous SNV MADD:NM_001135943:exon25:c.T3802C:p.L1268L,MADD:NM_001135944:exon25:c.T3793C:p.L1265L,MADD:NM_130470:exon25:c.T3934C:p.L1312L,MADD:NM_130472:exon25:c.T3805C:p.L1269L,MADD:NM_130474:exon25:c.T3805C:p.L1269L,MADD:NM_130476:exon25:c.T3931C:p.L1311L,MADD:NM_130471:exon26:c.T3865C:p.L1289L,MADD:NM_130473:exon26:c.T3994C:p.L1332L,MADD:NM_003682:exon28:c.T4111C:p.L1371L,MADD:NM_130475:exon28:c.T4111C:p.L1371L 0.99 0.98 1. 1. 1. 1. 0.9987 0.9856 0.9997 1 1 1 1 1 1. 0.99 1. 0.99 1. rs1017594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9856 0.9996 1 1 1 1.0000 0.9995 1 0.9962 0.9866 1 1 1 1 1 1 hom 7284.47 239 11 47331116 . T C 7284.47 Mask AC=2;AF=1.00;AN=2;DP=239;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0596;MQ=59.22;MQ0=0;QD=30.48;VQSLOD=7.2940;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,239:239:99:7284,554,0 11 47431728 47431728 A G exonic SLC39A13 nonsynonymous SNV SLC39A13:NM_001128225:exon2:c.A83G:p.E28G,SLC39A13:NM_001330245:exon2:c.A83G:p.E28G,SLC39A13:NM_152264:exon2:c.A83G:p.E28G 0.94 0.78 0.99 1. 1. 1. 0.9854 0.8306 0.9930 1 1 0.9997 0.9944 0.9997 0.94 0.84 1. 0.85 1. rs2010519 . . Benign not_specified RCV000454932.1 MedGen CN169374 . . . . . . 1.0 0.030 T 0.0 0.026 B 0.0 0.013 B 0.008 0.308 N 1 0.090 P -0.975 0.012 N -0.56 0.712 T 0.89 0.030 N 0.09 0.313 -0.918 0.459 T 0.000 0.000 T . . . -0.346 0.065 0.519 0.591 0.060 0.006 0.027 N c -0.954 -0.743 1.000 0.517 0.660 0.495 0 4.21 0.488 0.448 0.213 -0.200 0.102 0.682 0.282 0.687 0.306 2.159 0.036 . . . 0.9883 0.8309 0.9925 0.9991 1 1 0.9997 0.9936 0.9995 0.9498 0.8236 0.9916 0.9967 1 1 0.9999 0.9959 hom 3385.44 97 11 47431728 . A G 3385.44 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5640;MQ=59.76;MQ0=0;QD=34.90;VQSLOD=8.1514;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3385,280,0 11 47434986 47434986 G A exonic SLC39A13 synonymous SNV SLC39A13:NM_001128225:exon5:c.G573A:p.A191A,SLC39A13:NM_001330245:exon5:c.G573A:p.A191A,SLC39A13:NM_152264:exon5:c.G573A:p.A191A 0.27 0.014 0.21 0.4 0.31 0.48 0.3116 0.0638 0.1838 0.3689 0.2561 0.3326 0.3086 0.4622 0.25 0.07 0.34 0.23 0.3 rs2293576 COSM3752389;COSM3752390 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000441989.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3099 0.0591 0.1893 0.3466 0.3715 0.2652 0.3349 0.3122 0.4609 0.2509 0.0644 0.2220 0.3477 0.3978 0.2748 0.3358 0.2809 het 971.74 71 11 47434986 . G A 971.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.916;DP=71;Dels=0.00;FS=1.999;HRun=0;HaplotypeScore=2.5775;MQ=59.87;MQ0=0;MQRankSum=0.253;QD=13.69;ReadPosRankSum=1.326;VQSLOD=6.2901;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,38:71:99:1002,0,799 11 47464284 47464284 C T exonic RAPSN nonsynonymous SNV RAPSN:NM_005055:exon3:c.G614A:p.R205Q,RAPSN:NM_032645:exon3:c.G614A:p.R205Q 0.011 0.0008 0.05 . 0.012 0.0061 0.0152 0.0020 0.0560 0.0003 0.0082 0.0147 0.0067 0.0079 0.012 0.0041 0.015 . 0.057 rs34625105 . . Benign|Likely benign|Likely benign not_specified|Pena-Shokeir_syndrome_type_I|Congenital_Myasthenic_Syndrome\x2c_Recessive RCV000243655.2|RCV000282798.1|RCV000340125.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C1276035:208150:401138005|CN239337 . . . . . . 0.032 0.477 D 0.125 0.410 B 0.025 0.368 B 0.000 0.843 D 1 0.810 D 2.28 0.651 M -3.34 0.940 D -0.94 0.266 N 0.612 0.641 0.105 0.843 D 0.484 0.803 T . . . 6.117 0.843 28.3 0.999 0.997 0.971 0.726 D c 0.238 0.366 1.000 0.747 0.487 0.133 0 5.09 0.685 7.188 0.771 0.848 0.348 1.000 0.715 0.994 0.587 18.852 0.922 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain . . 0.0161 0.0022 0.0492 0.0035 0.0003 0.0074 0.0155 0.0128 0.0089 0.0137 0.0024 0.0346 0 0 0.0072 0.0223 0.0132 het 1557.57 130 11 47464284 . C T 1557.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.333;DP=130;Dels=0.00;FS=2.260;HRun=0;HaplotypeScore=2.6601;MQ=59.67;MQ0=0;MQRankSum=-1.058;QD=11.98;ReadPosRankSum=0.530;VQSLOD=5.4247;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,60:130:99:1588,0,1916 11 47469439 47469439 A G exonic RAPSN synonymous SNV RAPSN:NM_005055:exon2:c.T456C:p.Y152Y,RAPSN:NM_032645:exon2:c.T456C:p.Y152Y 0.63 0.35 0.69 0.66 0.71 0.84 0.6847 0.4272 0.6098 0.6450 0.6159 0.7234 0.7252 0.7823 0.62 0.43 0.72 0.61 0.67 rs7111873 . . other|Benign|Benign not_specified|Pena-Shokeir_syndrome_type_I|Congenital_Myasthenic_Syndrome\x2c_Recessive RCV000118119.4|RCV000315533.1|RCV000367686.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen CN169374|C1276035:208150:401138005|CN239337 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6809 0.4142 0.6150 0.7208 0.6461 0.6175 0.7229 0.7101 0.7794 0.6186 0.4148 0.6483 0.7219 0.6838 0.6199 0.725 0.6367 hom 1102.49 39 11 47469439 . A G 1102.49 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.27;VQSLOD=13.6397;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:93.24:1135,93,0 11 47640429 47640429 G C exonic MTCH2 nonsynonymous SNV MTCH2:NM_001317232:exon12:c.C841G:p.P281A,MTCH2:NM_001317233:exon12:c.C424G:p.P142A,MTCH2:NM_014342:exon13:c.C868G:p.P290A 0.26 0.045 0.4 0.28 0.35 0.32 0.3187 0.0893 0.3865 0.2904 0.3545 0.3522 0.3783 0.2761 0.27 0.097 0.35 0.2 0.34 rs1064608 COSM147185 1(haematopoietic_and_lymphoid_tissue);1(stomach);3(prostate) . . . . . . . . . . . 0.036 0.433 D 0.98 0.574 D 0.881 0.608 P 0.000 0.843 D 0.000 0.479 P 2.095 0.583 M -1.55 0.817 D -1.73 0.410 N 0.271 0.448 -1.259 0.000 T 0.000 0.000 T . . . 5.146 0.694 25.4 0.994 0.648 0.969 0.713 D c 0.708 0.697 1.000 0.462 0.707 0.730 0 5.13 0.696 6.227 0.720 1.048 0.713 1.000 0.715 1.000 0.888 15.526 0.755 . ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000196666.3|ENSG00000109919.5|ENSG00000109919.5|ENSG00000172247.3|ENSG00000172247.3|ENSG00000109920.8|ENSG00000213619.5|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000109919.5|ENSG00000172247.3|ENSG00000172247.3|ENSG00000134571.6|ENSG00000172247.3|ENSG00000172247.3|ENSG00000109919.5|ENSG00000172247.3|ENSG00000110514.14|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000109919.5|ENSG00000165917.5|ENSG00000134571.6|ENSG00000172247.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Testis|Thyroid|Whole_Blood|Whole_Blood 0.3234 0.0852 0.3853 0.2991 0.2887 0.3518 0.3516 0.3499 0.2752 0.4763 0.4150 0.5532 0.3028 0.5837 0.5369 0.4660 0.4860 hom 4094.08 146 11 47640429 . G C 4094.08 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8790;MQ=58.87;MQ0=0;QD=28.04;VQSLOD=7.4502;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,145:146:99:4093,334,0 11 47701528 47701528 C A exonic AGBL2 nonsynonymous SNV AGBL2:NM_024783:exon13:c.G2013T:p.M671I 0.58 0.64 0.67 0.57 0.57 0.47 0.5717 0.6284 0.7440 0.6171 0.6603 0.5464 0.6046 0.4567 0.57 0.62 0.55 0.61 0.48 rs12286721 COSM3752392 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.079 0.337 T 0.0 0.026 B 0.0 0.013 B 0.004 0.337 N 0.999 0.218 P -0.345 0.033 N 3.01 0.091 T -0.2 0.105 N 0.02 0.054 -1.026 0.218 T 0.000 0.000 T . . . 1.667 0.262 14.22 0.883 0.173 0.525 0.289 D c -0.905 -0.731 0.011 0.121 0.554 0.246 0 0.549 0.163 0.506 0.222 -0.368 0.067 0.981 0.351 0.991 0.552 6.045 0.189 . ENSG00000172247.3|ENSG00000109920.8|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000109920.8|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3|ENSG00000172247.3 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis 0.5806 0.6300 0.7391 0.5056 0.6113 0.6566 0.5469 0.5642 0.4591 0.5937 0.6303 0.6961 0.5133 0.5894 0.6418 0.5575 0.5853 hom 4350.69 155 11 47701528 . C A 4350.69 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=28.07;VQSLOD=8.4313;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4350,328,0 11 47834592 47834592 G A exonic NUP160 synonymous SNV NUP160:NM_015231:exon15:c.C1794T:p.D598D 0.99 0.98 1. 1. 1. 1. 0.9986 0.9840 0.9997 1 1 1 1 1 0.99 0.98 1. 1. 0.79 rs7110289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9834 0.9994 1 1 1 1.0000 0.9994 1 0.9952 0.9831 1 1 1 1 1 1 hom 1637.95 52 11 47834592 . G A 1637.95 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=31.50;VQSLOD=8.8953;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1671,135,0 11 48145247 48145247 T C exonic PTPRJ synonymous SNV PTPRJ:NM_001098503:exon5:c.T699C:p.T233T,PTPRJ:NM_002843:exon5:c.T699C:p.T233T 0.45 0.12 0.66 0.48 0.61 0.57 0.5721 0.1979 0.7188 0.5380 0.6440 0.6111 0.6060 0.5349 0.47 0.21 0.6 0.35 0.6 rs2270992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5811 0.1900 0.7075 0.5619 0.5299 0.6478 0.6061 0.5962 0.5305 0.4967 0.1920 0.6770 0.5795 0.5149 0.6582 0.6178 0.5736 hom 3195.36 107 11 48145247 . T C 3195.36 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9779;MQ=59.65;MQ0=0;QD=29.86;VQSLOD=8.2028;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3228,256,0 11 48166267 48166267 G C exonic PTPRJ nonsynonymous SNV PTPRJ:NM_002843:exon13:c.G2616C:p.E872D 0.37 0.056 0.59 0.38 0.58 0.39 0.5153 0.1363 0.6581 0.4213 0.6044 0.5800 0.5749 0.4015 0.43 0.15 0.58 0.27 0.63 rs4752904 COSM4998272;COSM4998273 2(pancreas) . . . . . . . . . . . 0.645 0.049 T 0.007 0.131 B 0.006 0.112 B . . . 1.000 0.189 P 0.55 0.145 N 2.57 0.136 T -0.31 0.121 N 0.045 0.025 -0.911 0.468 T 0.000 0.000 T . . . -2.152 0.006 0.001 0.266 0.013 0.011 0.041 N c -2.043 -2.136 1.000 0.747 0.707 0.730 0 -10.9 0.002 -3.981 0.004 -0.385 0.065 0.000 0.063 0.852 0.355 1.744 0.028 Fibronectin type III ENSG00000172247.3 Lung 0.5259 0.1262 0.6505 0.5543 0.4144 0.6047 0.5754 0.5574 0.4007 0.4539 0.1318 0.6217 0.6167 0.4023 0.6186 0.5899 0.5367 hom 2322.15 75 11 48166267 . G C 2322.15 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;QD=30.96;VQSLOD=8.4983;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2355,187,0 11 48238421 48238421 T G exonic OR4B1 synonymous SNV OR4B1:NM_001005470:exon1:c.T60G:p.A20A 0.98 0.92 0.99 1. 1. 1. 0.9939 0.9338 0.9965 1 1 0.9999 0.9967 0.9999 0.98 0.93 1. 0.98 1. rs10769329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9950 0.9294 0.9965 1 1 1 0.9999 0.9973 0.9999 0.9809 0.9331 0.9976 1 1 1 0.9997 0.9969 hom 5913.08 195 11 48238421 . T G 5913.08 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6215;MQ=59.52;MQ0=0;QD=30.32;VQSLOD=8.1268;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:5912,496,0 11 48285842 48285842 A G exonic OR4X1 nonsynonymous SNV OR4X1:NM_001004726:exon1:c.A430G:p.R144G 0.99 0.96 1. 1. 1. 1. 0.9970 0.9663 0.9988 1 1 1 0.9989 1 0.99 0.97 1. 0.96 1. rs1503193 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.495 0.001 N 1.33 0.350 T 2.53 0.002 N 0.043 0.023 -0.975 0.361 T 0.000 0.000 T . . . -0.988 0.032 0.017 0.159 0.004 0.002 0.011 N c -1.144 -0.988 0.001 0.081 0.487 0.133 0 4.28 0.500 0.812 0.267 0.004 0.136 0.001 0.137 0.000 0.016 5.788 0.175 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9976 0.9642 0.9987 1 1 1 1 0.9993 1.0000 0.9905 0.9668 1 1 1 1 0.9999 0.9969 hom 4587.29 140 11 48285842 . A G 4587.29 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=32.77;VQSLOD=10.0544;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4587,358,0 11 48285856 48285856 C T exonic OR4X1 synonymous SNV OR4X1:NM_001004726:exon1:c.C444T:p.G148G 0.6 0.54 0.74 0.55 0.74 0.5 0.7035 0.5528 0.8145 0.5895 0.8018 0.7552 0.7163 0.5310 0.69 0.57 0.75 0.55 0.8 rs10838850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7104 0.5522 0.8090 0.6947 0.5829 0.7976 0.7553 0.7141 0.5316 0.7009 0.5511 0.7936 0.6954 0.5680 0.8048 0.7691 0.7567 hom 3710.80 116 11 48285856 . C T 3710.80 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.80;MQ0=0;QD=31.99;VQSLOD=8.7849;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:116:99:3710,310,0 11 48285982 48285984 CTT - exonic OR4X1 nonframeshift deletion OR4X1:NM_001004726:exon1:c.570_572del:p.F192del 0.6 0.55 0.74 0.55 0.74 0.5 0.7030 0.5520 0.8148 0.5896 0.8017 0.7545 0.7170 0.5308 0.69 0.57 0.76 0.043 . rs76884411 COSM5021222 1(bone);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7100 0.5517 0.8087 0.6947 0.5818 0.7974 0.7549 0.7137 0.5315 0.6989 0.5477 0.7919 0.6913 0.5623 0.8038 0.7681 0.7505 hom 4216.75 91 11 48285981 . CCTT C 4216.75 Mask AC=2;AF=1.00;AN=2;DP=91;FS=0.000;HRun=0;HaplotypeScore=395.2322;MQ=54.11;MQ0=0;QD=45.83;set=variant2 GT:AD:DP:GQ:PL 1/1:4,88:91:99:4217,262,0 11 48286231 48286231 T A exonic OR4X1 stopgain OR4X1:NM_001004726:exon1:c.T819A:p.Y273X 0.6 0.55 0.74 0.55 0.74 0.5 0.7037 0.5531 0.8146 0.5918 0.8020 0.7552 0.7170 0.5309 0.69 0.57 0.75 0.55 0.79 rs10838851 COSM5618640 1(breast) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.537 P . . . . . . . . . . . . . . . . . . . . 7.928 0.956 35 0.977 0.350 0.216 0.212 N c -0.014 -0.291 0.000 0.055 0.487 0.133 0 2.38 0.283 -1.251 0.030 -0.535 0.048 0.000 0.063 0.079 0.180 5.848 0.178 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7103 0.5523 0.8089 0.6947 0.5827 0.7976 0.7553 0.7141 0.5315 0.7007 0.5504 0.7931 0.6954 0.5690 0.8043 0.7695 0.7520 hom 5460.57 174 11 48286231 . T A 5460.57 Mask AC=2;AF=1.00;AN=2;DP=174;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9960;MQ=59.17;MQ0=0;QD=31.38;VQSLOD=9.0367;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:5460,421,0 11 48286256 48286256 C T exonic OR4X1 nonsynonymous SNV OR4X1:NM_001004726:exon1:c.C844T:p.P282S 0.38 0.16 0.58 0.38 0.57 0.35 0.5123 0.2051 0.6618 0.4198 0.6025 0.5744 0.5629 0.3590 0.45 0.22 0.57 0.32 0.6 rs10838852 COSM5904965 1(skin) . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.999 0.916 D . . . 0.727 0.298 P 3.505 0.930 H -0.04 0.633 T -7.18 0.942 D 0.323 0.384 -0.899 0.481 T 0.000 0.000 T . . . 4.386 0.587 24.1 0.998 0.914 0.963 0.685 D c 0.743 0.559 0.140 0.172 0.487 0.133 0 4.29 0.502 4.661 0.610 0.767 0.311 0.998 0.411 0.734 0.317 14.616 0.680 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000110514.14|ENSG00000172247.3|ENSG00000086205.12|ENSG00000086205.12 Adipose_Subcutaneous|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.5211 0.1928 0.6526 0.5527 0.4134 0.6029 0.5684 0.5505 0.3561 0.4689 0.1964 0.6289 0.5705 0.3955 0.6166 0.5853 0.5418 hom 4036.14 132 11 48286256 . C T 4036.14 Mask AC=2;AF=1.00;AN=2;DP=132;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4916;MQ=59.30;MQ0=0;QD=30.58;VQSLOD=8.5160;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4036,328,0 11 48346661 48346669 TTGCTGATC - exonic OR4C3 nonframeshift deletion OR4C3:NM_001004702:exon1:c.169_177del:p.L57_I59del . . . . . . 0.4580 0.4653 0.4334 0.4354 0.4777 0.4546 0.4575 0.4878 0.45 0.46 0.44 . . rs201980031 COSM1163639 2(pancreas);23(upper_aerodigestive_tract);1(central_nervous_system);2(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4470 0.4077 0.4564 0.4800 0.4384 0.4777 0.4199 0.4637 0.4854 0.4123 0.4937 0.4869 0.2 0.4981 0.4997 0.3322 0.4603 het 821.21 124 11 48346660 . TTTGCTGATC T 821.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.158;DP=124;FS=26.701;HRun=0;HaplotypeScore=1044.0914;MQ=54.96;MQ0=0;MQRankSum=-4.464;QD=6.47;ReadPosRankSum=-0.237;set=variant2 GT:AD:DP:GQ:PL 0/1:110,17:124:99:860,0,13615 11 48346843 48346843 C T exonic OR4C3 synonymous SNV OR4C3:NM_001004702:exon1:c.C351T:p.I117I . . . . . . 0.5000 0.5 0.5002 0.4999 0.5 0.5000 0.5 0.5 . . . 0.39 0.5 rs73463998 COSM4594792 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5000 0.4999 0.5 0.5 0.5000 0.5 0.5 0.4124 0.4937 0.4869 0.2020 0.4981 0.4997 0.3324 0.4603 het 2967.66 250 11 48346843 . C T 2967.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.851;DP=250;DS;Dels=0.00;FS=1.052;HRun=1;HaplotypeScore=5.4604;MQ=56.14;MQ0=0;MQRankSum=-0.270;QD=11.87;ReadPosRankSum=0.033;VQSLOD=2.3060;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:2998,0,4032 11 48510654 48510654 A C exonic OR4A47 nonsynonymous SNV OR4A47:NM_001005512:exon1:c.A310C:p.I104L 0.48 0.38 0.59 0.45 0.65 0.41 0.5761 0.4331 0.6443 0.4766 0.6727 0.6313 0.6189 0.4063 0.56 0.44 0.62 0.4 0.7 rs7103557 COSM5432722 1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.065 0.219 N 1 0.090 P . . . 5.83 0.007 T 1.36 0.009 N 0.059 0.043 -1.106 0.035 T 0.000 0.000 T . . . -1.905 0.009 0.002 0.494 0.041 0.018 0.055 N c -1.372 -1.387 0.000 0.012 0.487 0.133 0 1.05 0.192 -2.305 0.012 -1.336 0.013 0.000 0.063 0.011 0.114 4.316 0.104 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000172247.3|ENSG00000086205.12|ENSG00000086205.12|ENSG00000086205.12 Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5816 0.4304 0.6470 0.6261 0.4724 0.6725 0.6251 0.6114 0.4037 0.5777 0.4330 0.6411 0.6457 0.4525 0.6907 0.6403 0.6276 hom 3925.26 124 11 48510654 . A C 3925.26 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=56.49;MQ0=0;QD=31.66;VQSLOD=6.6723;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3925,307,0 11 48510777 48510777 G A exonic OR4A47 nonsynonymous SNV OR4A47:NM_001005512:exon1:c.G433A:p.V145M 0.48 0.38 0.59 0.45 0.65 0.41 0.5763 0.4336 0.6451 0.4774 0.6730 0.6314 0.6203 0.4060 0.56 0.44 0.62 0.39 0.7 rs7103992 COSM4998614 1(pancreas) . . . . . . . . . . . 0.103 0.301 T 0.826 0.439 P 0.447 0.442 P 0.154 0.179 N 1 0.090 P 1.015 0.255 L 1.07 0.396 T -1.37 0.340 N 0.081 0.074 -0.949 0.411 T 0.000 0.000 T . . . -0.531 0.054 0.185 0.994 0.606 0.113 0.163 N c -0.425 -0.569 0.000 0.029 0.487 0.133 0 2.74 0.312 -1.812 0.018 -0.002 0.135 0.000 0.063 0.000 0.016 4.961 0.133 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000172247.3|ENSG00000086205.12|ENSG00000086205.12|ENSG00000086205.12 Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5815 0.4307 0.6472 0.6257 0.4727 0.6725 0.6250 0.6118 0.4033 0.5768 0.4317 0.6427 0.6457 0.4518 0.6918 0.6394 0.6283 hom 3477.72 102 11 48510777 . G A 3477.72 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.06;MQ0=0;QD=34.10;VQSLOD=8.0531;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3477,286,0 11 49974371 49974371 G A exonic OR4C13 nonsynonymous SNV OR4C13:NM_001001955:exon1:c.G397A:p.V133I 1. 0.99 1. 1. 1. 1. 0.9993 0.9930 0.9993 1 1 1 1 0.9999 1. 0.99 1. 1. 1. rs28662375 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.477 N 1 0.090 P -2.025 0.002 N 5.33 0.011 T 0.79 0.019 N 0.027 0.009 -1.011 0.267 T 0.000 0.000 T . . . -1.195 0.025 0.007 0.070 0.000 0.004 0.019 N c -1.530 -1.430 0.000 0.012 0.487 0.133 0 2.95 0.331 -0.230 0.090 0.035 0.151 0.000 0.063 0.238 0.225 3.421 0.069 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9994 0.9925 0.9995 1 1 1 1.0000 0.9995 1.0000 0.9983 0.9940 1 1 1 1 1 0.9990 hom 4943.03 149 11 49974371 . G A 4943.03 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9454;MQ=48.66;MQ0=0;QD=33.17;VQSLOD=3.7522;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4942,412,0 11 50003191 50003191 C A exonic OR4C12 nonsynonymous SNV OR4C12:NM_001005270:exon1:c.G847T:p.V283L 0.49 0.29 0.63 0.56 0.59 0.49 0.5805 0.3402 0.6831 0.5290 0.6000 0.6129 0.6413 0.5442 0.52 0.35 0.6 0.5 0.58 rs4598671 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.327 N 1.000 0.186 P -0.735 0.018 N 1.39 0.338 T 2.18 0.003 N 0.067 0.054 -0.925 0.449 T 0.000 0.000 T . . . 0.856 0.176 9.804 0.127 0.002 0.008 0.033 N c -1.609 -1.461 0.000 0.012 0.487 0.133 0 2.98 0.334 -0.732 0.050 -0.063 0.121 0.000 0.063 0.089 0.185 3.490 0.071 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000086205.12|ENSG00000205035.4|ENSG00000255190.2|ENSG00000205035.4|ENSG00000255190.2|ENSG00000219061.4|ENSG00000205035.4|ENSG00000255190.2|ENSG00000219061.4|ENSG00000205035.4|ENSG00000255190.2|ENSG00000255190.2|ENSG00000205035.4|ENSG00000255190.2|ENSG00000205035.4|ENSG00000086205.12|ENSG00000086205.12|ENSG00000255042.1 Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.5878 0.3368 0.6711 0.6911 0.5322 0.5955 0.6040 0.6276 0.5482 0.5274 0.3315 0.6806 0.7033 0.5311 0.6059 0.6053 0.6074 het 1076.93 87 11 50003191 . C A 1076.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.434;DP=87;Dels=0.00;FS=8.841;HRun=1;HaplotypeScore=4.6588;MQ=58.27;MQ0=0;MQRankSum=1.312;QD=12.38;ReadPosRankSum=-2.381;VQSLOD=2.8001;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,43:87:99:1107,0,1097 11 55111238 55111238 C A exonic OR4A16 nonsynonymous SNV OR4A16:NM_001005274:exon1:c.C562A:p.L188I 0.41 0.19 0.55 0.54 0.49 0.42 0.4821 0.2265 0.6254 0.5209 0.5312 0.4948 0.5330 0.4489 0.4 0.23 0.49 0.39 0.48 rs11229158 . . . . . . . . . . . . . 0.049 0.398 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.695 0.019 N 8.7 0.001 T 0.1 0.058 N 0.1 0.103 -0.995 0.314 T 0.000 0.000 T . . . 1.445 0.236 13.02 0.933 0.225 0.003 0.018 N c -1.457 -1.416 0.000 0.012 0.487 0.133 0 -0.125 0.128 -1.247 0.030 -0.115 0.114 0.000 0.063 0.014 0.122 3.420 0.069 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000150244.8 Skin_Sun_Exposed_Lower_leg 0.4911 0.2172 0.6122 0.5594 0.5200 0.5248 0.4850 0.5154 0.4508 0.4466 0.2596 0.6148 0.5861 0.5160 0.5569 0.5046 0.5257 het 2976.34 249 11 55111238 . C A 2976.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.486;DP=249;DS;Dels=0.00;FS=3.538;HRun=0;HaplotypeScore=4.5477;MQ=59.11;MQ0=0;MQRankSum=3.012;QD=11.95;ReadPosRankSum=1.374;VQSLOD=3.6972;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:136,112:249:99:3006,0,4045 11 55111584 55111584 A T exonic OR4A16 nonsynonymous SNV OR4A16:NM_001005274:exon1:c.A908T:p.K303M 0.41 0.19 0.55 0.54 0.49 0.41 0.4829 0.2332 0.6247 0.5224 0.5281 0.4957 0.5268 0.4443 0.4 0.23 0.49 0.39 0.34 rs10896659 . . . . . . . . . . . . . 0.108 0.294 T 0.082 0.231 B 0.04 0.225 B . . . 1 0.090 P 1.26 0.320 L 1.07 0.396 T -1.08 0.281 N 0.12 0.134 -0.952 0.407 T 0.000 0.000 T . . . 1.459 0.238 13.10 0.831 0.140 0.062 0.120 N c -0.823 -0.918 0.000 0.012 0.487 0.133 0 1.79 0.239 -0.617 0.056 0.677 0.295 0.000 0.063 0.014 0.122 6.283 0.201 . ENSG00000150244.8 Skin_Sun_Exposed_Lower_leg 0.4900 0.2185 0.6120 0.5570 0.5200 0.5284 0.4843 0.5132 0.4438 0.4147 0.2152 0.6043 0.5828 0.5179 0.5313 0.4741 0.4898 het 541.87 51 11 55111584 . A T 541.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.452;DP=51;Dels=0.00;FS=10.670;HRun=0;HaplotypeScore=1.9916;MQ=58.40;MQ0=0;MQRankSum=2.786;QD=10.62;ReadPosRankSum=-1.151;VQSLOD=3.3214;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,22:51:99:572,0,800 11 55135435 55135435 C T exonic OR4A15 nonsynonymous SNV OR4A15:NM_001005275:exon1:c.C76T:p.P26S 0.23 0.016 0.31 0.39 0.28 0.23 0.2727 0.0539 0.4249 0.3811 0.3283 0.2685 0.3085 0.2430 0.2 0.062 0.27 0.21 0.25 rs1425193 COSM3752449 2(large_intestine) . . . . . . . . . . . 0.88 0.025 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0.255 0.098 N 1.19 0.376 T 0.19 0.050 N 0.054 0.036 -0.949 0.411 T 0.000 0.000 T . . . -0.281 0.070 0.734 0.888 0.177 0.001 0.008 N c -1.402 -1.453 0.000 0.012 0.487 0.133 0 -2.65 0.057 -2.077 0.015 0.582 0.286 0.000 0.063 0.006 0.095 0.931 0.012 . ENSG00000150244.8 Skin_Sun_Exposed_Lower_leg 0.2819 0.0494 0.4063 0.2503 0.3821 0.3187 0.2661 0.2920 0.2457 0.2153 0.0500 0.3986 0.2483 0.3733 0.3239 0.2544 0.2796 het 757.27 52 11 55135435 . C T 757.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.537;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=58.38;MQ0=0;MQRankSum=-0.737;QD=14.56;ReadPosRankSum=0.092;VQSLOD=5.5277;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,29:52:99:787,0,587 11 55322211 55322211 A G exonic OR4C15 synonymous SNV OR4C15:NM_001001920:exon1:c.A429G:p.K143K 0.25 0.1 0.32 0.39 0.28 0.23 0.2793 0.1248 0.4272 0.3810 0.3283 0.2686 0.3117 0.2420 0.22 0.13 0.27 0.25 0.28 rs9804659 COSM3752451 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2869 0.1184 0.4108 0.2494 0.3822 0.3191 0.2661 0.2935 0.2450 0.2344 0.1149 0.4060 0.2483 0.3748 0.3243 0.2549 0.2853 het 3016.66 227 11 55322211 . A G 3016.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.064;DP=227;DS;Dels=0.00;FS=4.652;HRun=0;HaplotypeScore=2.8903;MQ=58.75;MQ0=0;MQRankSum=0.393;QD=13.29;ReadPosRankSum=-0.057;VQSLOD=5.7318;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:116,111:227:99:3047,0,3146 11 55339652 55339652 C T exonic OR4C16 stopgain OR4C16:NM_001004701:exon1:c.C49T:p.Q17X 0.25 0.1 0.32 0.39 0.28 0.23 0.2804 0.1245 0.4265 0.3787 0.3281 0.2693 0.3163 0.2479 0.22 0.13 0.27 0.25 0.26 rs1459101 COSM3752453 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.023 0.265 N 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 6.481 0.894 30 0.993 0.576 0.060 0.118 N c 0.238 -0.104 0.000 0.012 0.487 0.133 0 0.756 0.175 -1.129 0.033 0.711 0.302 0.000 0.063 0.995 0.604 5.491 0.160 . ENSG00000150244.8 Skin_Sun_Exposed_Lower_leg 0.2870 0.1183 0.4106 0.2484 0.3807 0.3194 0.2666 0.2943 0.2446 0.2344 0.1151 0.4041 0.2483 0.3744 0.3242 0.2548 0.2828 het 1431.75 138 11 55339652 . C T 1431.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.288;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9697;MQ=59.46;MQ0=0;MQRankSum=-0.725;QD=10.37;ReadPosRankSum=-0.360;VQSLOD=6.2184;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,61:138:99:1462,0,2141 11 55339798 55339798 C T exonic OR4C16 synonymous SNV OR4C16:NM_001004701:exon1:c.C195T:p.S65S 0.26 0.12 0.32 0.39 0.28 0.23 0.2805 0.1406 0.4276 0.3785 0.3282 0.2685 0.3139 0.2415 0.22 0.14 0.27 0.25 0.27 rs557667 COSM3752456 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2879 0.1332 0.4113 0.2495 0.3807 0.3193 0.2665 0.2946 0.2445 0.2379 0.1275 0.4053 0.2483 0.3758 0.3236 0.2547 0.2841 het 2229.44 217 11 55339798 . C T 2229.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.263;DP=217;Dels=0.00;FS=0.508;HRun=2;HaplotypeScore=3.6172;MQ=59.15;MQ0=0;MQRankSum=-0.512;QD=10.27;ReadPosRankSum=-0.637;VQSLOD=6.1023;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:129,88:217:99:2259,0,3761 11 55339829 55339829 A G exonic OR4C16 nonsynonymous SNV OR4C16:NM_001004701:exon1:c.A226G:p.T76A 0.89 0.72 0.93 1. 0.89 0.99 0.9019 0.7340 0.9473 0.9993 0.9091 0.8878 0.9207 0.9778 0.84 0.74 0.89 0.91 0.88 rs557590 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.477 N 1 0.090 P 0.485 0.132 N 4.1 0.030 T 1.69 0.006 N 0.055 0.037 -0.968 0.376 T 0.000 0.000 T . . . -1.166 0.026 0.008 0.142 0.003 0.005 0.023 N c -1.305 -1.184 0.000 0.012 0.487 0.133 0 3.07 0.343 -4.708 0.002 -0.018 0.130 0.000 0.063 0.898 0.379 7.218 0.250 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9066 0.7298 0.9426 0.8752 0.9996 0.9050 0.8892 0.9069 0.9773 0.8503 0.7388 0.9284 0.8874 1 0.8993 0.8791 0.9002 het 2712.79 235 11 55339829 . A G 2712.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.120;DP=235;Dels=0.00;FS=1.646;HRun=0;HaplotypeScore=3.8855;MQ=58.95;MQ0=0;MQRankSum=-0.084;QD=11.54;ReadPosRankSum=-0.156;VQSLOD=6.1899;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:132,103:235:99:2743,0,3741 11 55340379 55340379 T C exonic OR4C16 nonsynonymous SNV OR4C16:NM_001004701:exon1:c.T776C:p.L259P 0.48 0.33 0.6 0.54 0.55 0.46 0.5375 0.3496 0.6547 0.5197 0.5890 0.5555 0.5782 0.4872 0.48 0.35 0.55 0.49 0.52 rs559449 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.812 0.290 P -2.68 0.000 N 9.17 0.000 T 9.67 0.000 N 0.118 0.130 -1.012 0.264 T 0.000 0.000 T . . . -0.659 0.047 0.090 0.061 0.000 0.001 0.005 N c -1.471 -1.244 0.000 0.056 0.487 0.133 0 4.68 0.582 -0.366 0.076 -0.074 0.119 0.000 0.063 0.293 0.236 10.856 0.458 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000150244.8 Skin_Sun_Exposed_Lower_leg 0.5443 0.3431 0.6417 0.5829 0.5192 0.5853 0.5489 0.5687 0.4897 0.4915 0.3413 0.6360 0.6040 0.5167 0.5899 0.5378 0.5672 het 1873.34 165 11 55340379 . T C 1873.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.249;DP=165;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.7696;MQ=58.80;MQ0=0;MQRankSum=2.174;QD=11.35;ReadPosRankSum=-0.720;VQSLOD=4.4481;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,73:165:99:1903,0,2380 11 55433040 55433040 T C exonic OR4C6 nonsynonymous SNV OR4C6:NM_001004704:exon1:c.T398C:p.I133T 0.25 0.1 0.32 0.39 0.28 0.23 0.2792 0.1253 0.4284 0.3796 0.3284 0.2684 0.3128 0.2413 0.22 0.13 0.27 0.25 0.27 rs11230600 COSM5618219 1(breast) . . . . . . . . . . . 0.068 0.357 T 0.042 0.201 B 0.081 0.275 B 0.029 0.255 N 0.997 0.227 P 2.94 0.850 M 2.02 0.211 T -3.53 0.685 D 0.128 0.147 -0.964 0.385 T 0.000 0.000 T . . . 1.588 0.252 13.78 0.945 0.244 0.196 0.205 N c -0.516 -0.541 0.000 0.058 0.487 0.133 0 2.52 0.294 1.299 0.328 0.640 0.291 0.008 0.178 0.087 0.184 7.933 0.289 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000150244.8 Skin_Sun_Exposed_Lower_leg 0.2870 0.1193 0.4113 0.2494 0.3807 0.3193 0.2664 0.2948 0.2445 0.2349 0.1160 0.4026 0.2483 0.3777 0.3244 0.2547 0.2847 het 2351.35 160 11 55433040 . T C 2351.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.417;DP=160;Dels=0.00;FS=4.615;HRun=1;HaplotypeScore=2.7316;MQ=59.48;MQ0=0;MQRankSum=1.380;QD=14.60;ReadPosRankSum=-0.324;VQSLOD=5.4437;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,83:160:99:2381,0,2057 11 55541098 55541098 G A exonic OR5D13 nonsynonymous SNV OR5D13:NM_001001967:exon1:c.G185A:p.C62Y 0.97 0.9 0.99 1. 1. 1. 0.9918 0.9122 0.9960 1 1 0.9996 0.9934 0.9997 0.97 0.92 1. 0.96 1. rs297118 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.008 0.311 N 1.000 0.207 P -4.15 0.000 N 6.31 0.006 T 8.08 0.000 N 0.064 0.049 -1.014 0.257 T 0.000 0.000 T . . . -0.456 0.058 0.281 0.177 0.005 0.012 0.042 N c -1.380 -1.076 0.000 0.059 0.487 0.133 0 3.34 0.372 2.994 0.489 -1.224 0.015 0.990 0.367 0.004 0.083 7.895 0.287 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9936 0.9141 0.9948 0.9982 1 1 0.9997 0.9965 0.9995 0.9776 0.9218 0.9916 0.9967 1 1 0.9999 0.9949 hom 3766.71 122 11 55541098 . G A 3766.71 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=30.87;VQSLOD=9.2857;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3766,313,0 11 55563776 55563776 T G exonic OR5D14 nonsynonymous SNV OR5D14:NM_001004735:exon1:c.T745G:p.S249A 0.97 0.9 0.99 1. 1. 1. 0.9919 0.9129 0.9960 1 1 0.9997 0.9934 0.9997 0.97 0.92 1. 0.94 1. rs297054 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.431 N 1 0.090 P -1.595 0.004 N 8.86 0.000 T 2.23 0.003 N 0.033 0.013 -0.999 0.301 T 0.000 0.000 T . . . -2.549 0.003 0.001 0.161 0.004 0.003 0.018 N c -1.861 -1.715 0.000 0.012 0.487 0.133 0 1.17 0.199 0.367 0.200 -0.433 0.058 0.000 0.063 0.574 0.284 5.435 0.157 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9936 0.9141 0.9946 0.9982 1 1 0.9997 0.9965 0.9995 0.9774 0.9213 0.9916 0.9967 1 1 0.9999 0.9949 hom 4657.94 138 11 55563776 . T G 4657.94 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.50;MQ0=0;QD=33.75;VQSLOD=9.7796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4658,361,0 11 55563900 55563900 T C exonic OR5D14 nonsynonymous SNV OR5D14:NM_001004735:exon1:c.T869C:p.L290P 0.22 0.33 0.18 0.15 0.25 0.13 0.2322 0.3193 0.1734 0.1579 0.2892 0.2540 0.2062 0.1491 0.28 0.32 0.26 0.25 0.25 rs297055 COSM147204 1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.925 0.494 P 0.491 0.455 P 0.003 0.350 N 0.998 0.224 P 2.855 0.832 M 0.87 0.464 T -6.1 0.900 D 0.499 0.545 -1.022 0.230 T 0.000 0.000 T . . . 5.269 0.712 25.7 0.996 0.747 0.275 0.231 N c 0.389 0.321 0.000 0.071 0.487 0.133 0 5.08 0.682 2.914 0.482 0.847 0.346 0.102 0.226 0.999 0.750 13.709 0.620 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000254547.1 Adrenal_Gland 0.2314 0.3176 0.1831 0.2312 0.1565 0.2904 0.2577 0.2199 0.1479 0.2697 0.3050 0.1909 0.2219 0.1795 0.2859 0.2619 0.2474 het 807.62 101 11 55563900 . T C 807.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.541;DP=101;Dels=0.00;FS=1.719;HRun=1;HaplotypeScore=2.7861;MQ=58.75;MQ0=0;MQRankSum=0.828;QD=8.00;ReadPosRankSum=0.976;VQSLOD=5.8893;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,37:101:99:838,0,1577 11 55587117 55587117 T A exonic OR5D18 synonymous SNV OR5D18:NM_001001952:exon1:c.T12A:p.T4T 1. 0.99 1. 1. 1. 1. 0.9989 0.9880 0.9996 1 1 1.0000 0.9989 0.9999 1. 0.99 1. 1. 1. rs297082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9882 0.9995 1 1 1 1.0000 0.9994 0.9999 0.9971 0.9898 1 1 1 1 1 1 hom 2129.89 65 11 55587117 . T A 2129.89 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.77;VQSLOD=14.2139;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2163,169,0 11 55587511 55587511 A G exonic OR5D18 nonsynonymous SNV OR5D18:NM_001001952:exon1:c.A406G:p.N136D 1. 0.99 1. 1. 1. 1. 0.9989 0.9880 0.9996 1 1 1.0000 0.9989 0.9999 1. 0.99 1. 0.98 1. rs297081 . . . . . . . . . . . . . 0.034 0.440 D 0.008 0.135 B 0.002 0.063 B 0.141 0.183 N 1 0.090 P 0.49 0.133 N 2.14 0.194 T -0.18 0.098 N 0.007 0.000 -1.059 0.119 T 0.000 0.000 T . . . -0.775 0.041 0.049 0.920 0.207 0.004 0.022 N c -1.347 -1.326 0.000 0.012 0.487 0.133 0 1.9 0.247 -3.003 0.007 -1.196 0.016 0.000 0.063 0.000 0.016 5.278 0.149 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9992 0.9883 0.9995 1 1 1 1.0000 0.9995 0.9999 0.9971 0.9898 1 1 1 1 1 1 hom 8364.56 250 11 55587511 . A G 8364.56 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8993;MQ=59.57;MQ0=0;QD=33.46;VQSLOD=8.8655;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8338,650,0 11 55587914 55587914 A G exonic OR5D18 nonsynonymous SNV OR5D18:NM_001001952:exon1:c.A809G:p.H270R 0.23 0.02 0.32 0.39 0.29 0.24 0.2810 0.0575 0.4298 0.3839 0.3288 0.2789 0.3183 0.2513 0.2 0.066 0.28 0.22 0.25 rs55832853 COSM3752458 1(large_intestine) . . . . . . . . . . . 0.69 0.043 T 0.004 0.112 B 0.021 0.181 B 0.022 0.268 N 1 0.090 P -0.33 0.035 N 8.83 0.000 T -1.14 0.293 N 0.068 0.068 -1.012 0.261 T 0.000 0.000 T . . . -1.272 0.023 0.005 0.289 0.015 0.118 0.167 N c -0.935 -0.850 0.000 0.012 0.487 0.133 0 2.44 0.287 0.706 0.252 0.018 0.143 0.000 0.063 0.496 0.270 5.983 0.185 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000150244.8 Skin_Sun_Exposed_Lower_leg 0.2900 0.0524 0.4123 0.2756 0.3854 0.3199 0.2757 0.3058 0.2528 0.2202 0.0531 0.3981 0.27 0.3766 0.3265 0.2604 0.2843 het 2111.70 164 11 55587914 . A G 2111.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DP=164;Dels=0.00;FS=2.848;HRun=0;HaplotypeScore=4.7271;MQ=59.53;MQ0=0;MQRankSum=-0.717;QD=12.88;ReadPosRankSum=-0.214;VQSLOD=5.0290;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,81:164:99:2142,0,2087 11 55595081 55595081 C T exonic OR5L2 synonymous SNV OR5L2:NM_001004739:exon1:c.C387T:p.P129P 0.11 0.26 0.086 0.001 0.13 0.014 0.1140 0.2559 0.0660 0.0006 0.0936 0.1385 0.0925 0.0277 0.18 0.25 0.14 0.076 0.14 rs7102394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1098 0.2591 0.0729 0.1465 0.0004 0.1002 0.1386 0.1151 0.0275 0.1570 0.2495 0.0883 0.1325 0 0.1030 0.1402 0.1130 het 2869.96 250 11 55595081 . C T 2869.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.239;DP=250;DS;Dels=0.00;FS=10.428;HRun=0;HaplotypeScore=1.9120;MQ=59.72;MQ0=0;MQRankSum=1.907;QD=11.48;ReadPosRankSum=-0.697;VQSLOD=4.1236;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:147,103:250:99:2900,0,4419 11 55606302 55606302 G T exonic OR5D16 synonymous SNV OR5D16:NM_001005496:exon1:c.G75T:p.L25L 0.67 0.61 0.68 0.77 0.62 0.71 0.6567 0.6230 0.7406 0.7860 0.6416 0.6233 0.6313 0.6942 0.63 0.63 0.63 0.64 0.61 rs6591699 COSM3752462 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6613 0.6232 0.7277 0.6224 0.7850 0.6465 0.6259 0.6419 0.6934 0.6321 0.6293 0.7182 0.6007 0.7869 0.6349 0.6129 0.6230 hom 3191.98 103 11 55606302 . G T 3191.98 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6457;MQ=59.33;MQ0=0;QD=30.99;VQSLOD=9.2190;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:103:99:3225,253,0 11 55606693 55606693 G A exonic OR5D16 nonsynonymous SNV OR5D16:NM_001005496:exon1:c.G466A:p.A156T 0.11 0.28 0.088 . 0.13 0.014 0.1148 0.2639 0.0668 0.0007 0.0937 0.1384 0.0927 0.0280 0.18 0.26 0.14 0.12 0.14 rs6591700 COSM5904967 1(skin) . . . . . . . . . . . 0.362 0.118 T 0.072 0.225 B 0.035 0.214 B . . . 1 0.090 P -0.185 0.042 N 1.14 0.384 T -0.07 0.080 N 0.017 0.003 -0.961 0.391 T 0.000 0.000 T . . . 0.151 0.108 4.157 0.785 0.119 0.030 0.077 N c -1.336 -1.395 0.000 0.012 0.487 0.133 0 -2.16 0.066 -4.403 0.003 -2.312 0.003 0.000 0.063 0.000 0.016 6.607 0.218 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1106 0.2678 0.0736 0.1468 0.0005 0.1004 0.1387 0.1156 0.0279 0.1600 0.2588 0.0871 0.1325 0 0.1029 0.1408 0.1137 het 1583.93 129 11 55606693 . G A 1583.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.158;DP=129;Dels=0.00;FS=9.872;HRun=0;HaplotypeScore=4.6605;MQ=59.46;MQ0=0;MQRankSum=-0.520;QD=12.28;ReadPosRankSum=-0.046;VQSLOD=4.5752;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,59:129:99:1614,0,1815 11 55606818 55606818 C T exonic OR5D16 synonymous SNV OR5D16:NM_001005496:exon1:c.C591T:p.S197S 0.45 0.27 0.5 0.63 0.36 0.58 0.4243 0.2996 0.5667 0.6276 0.3519 0.3700 0.4216 0.5454 0.35 0.3 0.37 0.38 0.34 rs11231253 COSM1179679 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4292 0.2971 0.5436 0.3912 0.6293 0.3557 0.3682 0.4217 0.5452 0.3586 0.3143 0.5252 0.3826 0.6111 0.3481 0.3490 0.3735 het 1762.34 196 11 55606818 . C T 1762.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.416;DP=196;Dels=0.00;FS=1.162;HRun=0;HaplotypeScore=5.4327;MQ=59.45;MQ0=0;MQRankSum=2.217;QD=8.99;ReadPosRankSum=0.844;VQSLOD=3.6231;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:123,73:196:99:1792,0,3435 11 55681336 55681336 G A exonic OR5W2 synonymous SNV OR5W2:NM_001001960:exon1:c.C723T:p.C241C 0.26 0.34 0.31 0.14 0.33 0.18 0.3046 0.3644 0.2581 0.1370 0.2656 0.3495 0.3020 0.2220 0.36 0.37 0.35 0.29 0.37 rs11231529 COSM3752467 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3018 0.3655 0.2686 0.4244 0.1337 0.2779 0.3441 0.3185 0.2233 0.3285 0.3542 0.2816 0.4305 0.1382 0.2824 0.3470 0.3051 het 780.99 73 11 55681336 . G A 780.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.909;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.97;MQ0=0;MQRankSum=0.262;QD=10.70;ReadPosRankSum=-1.289;VQSLOD=6.5993;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,31:73:99:811,0,1180 11 55681494 55681494 G A exonic OR5W2 nonsynonymous SNV OR5W2:NM_001001960:exon1:c.C565T:p.R189C 1. 1. 1. 1. 1. 1. 0.9998 0.9977 1 1 1 1 1 1 1. 1. 1. 1. 1. rs2457239 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.437 N 1.000 0.204 P -3.78 0.000 N 10.22 0.000 T 11.05 0.000 N 0.149 0.176 -0.925 0.449 T 0.000 0.000 T . . . 0.924 0.182 10.22 0.060 0.000 0.005 0.023 N c -1.284 -0.993 0.002 0.087 0.487 0.133 0 5.0 0.661 2.782 0.472 -0.044 0.124 0.191 0.240 0.012 0.117 9.142 0.359 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9998 0.9976 0.9999 1 1 1 1 1 1 0.9993 0.9974 1 1 1 1 1 1 hom 3057.02 104 11 55681494 . G A 3057.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.631;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8055;MQ=59.38;MQ0=0;MQRankSum=1.698;QD=29.39;ReadPosRankSum=1.026;VQSLOD=7.3492;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,103:104:99:3090,219,0 11 55703011 55703011 G A exonic OR5I1 nonsynonymous SNV OR5I1:NM_006637:exon1:c.C866T:p.P289L 0.02 0.0045 0.036 . 0.058 0.012 0.0412 0.0102 0.0167 0.0001 0.0623 0.0569 0.0417 0.0276 0.038 0.0098 0.053 . 0.057 rs61995929 . . . . . . . . . . . . . 0.008 0.586 D 0.977 0.566 D 0.46 0.446 P 0.000 0.449 D 1.000 0.516 D 2.795 0.818 M -0.04 0.633 T -9.42 0.984 D 0.476 0.525 -0.190 0.779 T 0.119 0.418 T . . . 5.336 0.722 25.8 0.993 0.595 0.932 0.573 D c 0.518 0.370 0.178 0.178 0.487 0.133 0 4.78 0.605 4.256 0.584 0.731 0.306 1.000 0.715 0.024 0.140 15.667 0.769 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0396 0.0079 0.0169 0.0450 0.0002 0.0628 0.0553 0.0425 0.0269 0.0346 0.0077 0.0276 0.0331 0 0.0587 0.0486 0.0346 het 180.72 29 11 55703011 . G A 180.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.89;MQ0=0;MQRankSum=1.391;QD=6.23;ReadPosRankSum=-0.542;VQSLOD=5.4724;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,9:29:99:211,0,554 11 55761221 55761221 C T exonic OR5F1 nonsynonymous SNV OR5F1:NM_003697:exon1:c.G881A:p.S294N 0.97 0.9 0.99 1. 1. 1. 0.9925 0.9187 0.9964 1 1 0.9997 0.9945 0.9998 0.97 0.92 1. 0.97 1. rs2449134 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.265 0.001 N 1.41 0.334 T 4.22 0.000 N 0.022 0.005 -0.995 0.313 T 0.000 0.000 T . . . -0.570 0.052 0.148 0.079 0.001 0.014 0.047 N c -1.394 -1.191 0.000 0.012 0.487 0.133 0 2.99 0.335 2.492 0.447 -0.307 0.079 0.985 0.357 0.002 0.062 7.209 0.249 . . . 0.9940 0.9201 0.9952 0.9981 1 1 0.9997 0.9970 0.9996 0.9787 0.9259 0.9916 0.9967 1 1 0.9999 0.9949 hom 4169.39 128 11 55761221 . C T 4169.39 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=32.57;VQSLOD=9.0049;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4169,331,0 11 55761738 55761738 T G exonic OR5F1 synonymous SNV OR5F1:NM_003697:exon1:c.A364C:p.R122R 1. 0.99 1. 1. 1. 1. 0.9994 0.9937 0.9998 1 1 1.0000 1 1 1. 0.99 1. 1. 1. rs2128152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9937 0.9999 1 0.9999 0.9999 1 0.9998 1 0.9982 0.9938 1 1 1 1 1 0.9990 hom 4747.43 166 11 55761738 . T G 4747.43 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3376;MQ=54.40;MQ0=2;QD=28.60;VQSLOD=3.2415;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:4746,403,0 11 55798152 55798152 G A exonic OR5AS1 synonymous SNV OR5AS1:NM_001001921:exon1:c.G258A:p.L86L 0.97 0.9 0.99 1. 1. 1. 0.9919 0.9149 0.9963 1 1 0.9997 0.9943 0.9997 0.97 0.92 1. 0.97 1. rs1482011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9935 0.9164 0.9950 0.9981 1 1 0.9997 0.9970 0.9996 0.9779 0.9233 0.9905 0.9967 1 1 0.9999 0.9949 hom 3058.58 100 11 55798152 . G A 3058.58 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=30.59;VQSLOD=9.1155;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3092,238,0 11 55872876 55872876 C T exonic OR8H2 nonsynonymous SNV OR8H2:NM_001005200:exon1:c.C358T:p.H120Y 0.96 0.98 0.96 1. 0.91 0.95 0.9341 0.9715 0.9682 1 0.8752 0.9158 0.9273 0.9498 0.94 0.97 0.92 0.96 0.95 rs2512961 COSM5000035 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.477 N 1.000 0.090 P -3.38 0.000 N 5.01 0.013 T 4.65 0.000 N 0.085 0.080 -1.029 0.207 T 0.000 0.000 T . . . -0.597 0.050 0.127 0.307 0.017 0.003 0.017 N c -1.526 -1.298 0.000 0.035 0.487 0.133 0 3.58 0.400 1.358 0.335 -0.076 0.119 0.003 0.159 0.392 0.253 9.436 0.376 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9348 0.9714 0.9675 0.9730 0.9999 0.8829 0.9134 0.9276 0.9489 0.9328 0.9716 0.9630 0.9801 1 0.8826 0.9141 0.9002 hom 7158.73 225 11 55872876 . C T 7158.73 Mask AC=2;AF=1.00;AN=2;DP=225;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9762;MQ=50.83;MQ0=4;QD=31.82;VQSLOD=4.2381;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:7158,593,0 11 55873024 55873024 A G exonic OR8H2 nonsynonymous SNV OR8H2:NM_001005200:exon1:c.A506G:p.Y169C 1. 0.99 1. 1. 1. 1. 0.9994 0.9938 0.9998 1 1 1 1 1 1. 0.99 1. 0.96 1. rs2449148 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.205 P -2.725 0.000 N 9.05 0.000 T 10.68 0.000 N 0.051 0.032 -0.976 0.358 T 0.000 0.000 T . . . -1.039 0.030 0.013 0.058 0.000 0.023 0.066 N c -1.374 -1.142 0.000 0.042 0.487 0.133 0 3.58 0.400 4.385 0.591 -0.088 0.118 1.000 0.715 0.095 0.187 8.594 0.327 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9996 0.9937 0.9999 1 1 1 1 0.9998 1 0.9983 0.9939 1 1 1 1 1 1 hom 8321.21 250 11 55873024 . A G 8321.21 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6807;MQ=58.46;MQ0=0;QD=33.28;VQSLOD=9.1027;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8321,641,0 11 55873368 55873368 G A exonic OR8H2 nonsynonymous SNV OR8H2:NM_001005200:exon1:c.G850A:p.V284M 1. 0.99 1. 1. 1. 1. 0.9994 0.9936 0.9998 1 1 1 1 1 1. 0.99 1. 1. 0.97 rs1842696 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.6 0.004 N 1.23 0.369 T 3.5 0.001 N 0.044 0.024 -0.976 0.359 T 0.000 0.000 T . . . -0.023 0.091 2.373 0.050 0.000 0.015 0.049 N c -1.478 -1.289 0.000 0.012 0.487 0.133 0 3.58 0.400 -0.128 0.104 -0.017 0.130 0.000 0.063 0.808 0.339 4.300 0.103 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9996 0.9936 0.9999 1 1 1 1 0.9998 1 0.9983 0.9939 1 1 1 1 1 1 hom 4810.62 162 11 55873368 . G A 4810.62 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0181;MQ=57.55;MQ0=0;QD=29.70;VQSLOD=4.3770;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,161:162:99:4810,373,0 11 55890257 55890257 C T exonic OR8H3 nonsynonymous SNV OR8H3:NM_001005201:exon1:c.C409T:p.P137S 1. 0.99 1. 1. 1. 1. 0.9994 0.9937 0.9998 1 1 1 1 1 1. 0.99 1. 1. 1. rs1842691 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P -2.205 0.001 N 4.83 0.015 T 3.94 0.001 N 0.048 0.029 -1.013 0.260 T 0.000 0.000 T . . . -1.465 0.018 0.003 0.060 0.000 0.004 0.019 N c -1.889 -1.734 0.000 0.012 0.487 0.133 0 2.28 0.275 0.061 0.141 -0.286 0.084 0.008 0.178 0.013 0.120 0.932 0.012 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9996 0.9936 0.9999 1 1 1 1 0.9998 1 0.9983 0.9939 1 1 1 1 1 1 hom 5529.17 179 11 55890257 . C T 5529.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=179;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.01;MQ0=5;MQRankSum=-0.199;QD=30.89;ReadPosRankSum=-1.234;VQSLOD=4.0352;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,178:179:99:5488,456,0 11 56000403 56000403 C G exonic OR5T2 nonsynonymous SNV OR5T2:NM_001004746:exon1:c.G259C:p.V87L 0.91 0.8 0.92 1. 0.88 0.98 0.8999 0.7886 0.9347 0.9994 0.9389 0.8755 0.9150 0.9766 0.85 0.79 0.88 0.89 0.9 rs10791893 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.014 0.288 N 1 0.090 P -0.76 0.017 N 4.08 0.030 T 2.53 0.002 N 0.031 0.012 -1.032 0.199 T 0.000 0.000 T . . . -1.857 0.010 0.002 0.103 0.001 0.016 0.051 N c -1.887 -1.801 0.000 0.012 0.500 0.196 0 0.512 0.161 -3.955 0.004 -4.635 0.000 0.000 0.063 0.000 0.016 5.331 0.151 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9027 0.7850 0.9291 0.8257 0.9997 0.9321 0.8768 0.8941 0.9764 0.8683 0.7939 0.9117 0.8543 1 0.9318 0.8781 0.9047 hom 1845.37 56 11 56000403 . C G 1845.37 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=32.95;VQSLOD=9.3626;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1878,144,0 11 56043702 56043702 G C exonic OR5T1 synonymous SNV OR5T1:NM_001004745:exon1:c.G588C:p.L196L 0.77 0.76 0.72 0.83 0.68 0.83 0.7123 0.7270 0.7525 0.8521 0.7803 0.6599 0.6987 0.7873 0.68 0.72 0.66 0.76 0.66 rs7125697 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7131 0.7245 0.7425 0.5810 0.8545 0.7637 0.6641 0.6952 0.7830 0.7092 0.7345 0.7303 0.5795 0.8538 0.7582 0.6686 0.7156 het 4283.99 250 11 56043702 . G C 4283.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.690;DP=250;DS;Dels=0.00;FS=1.576;HRun=1;HaplotypeScore=1.9290;MQ=56.73;MQ0=2;MQRankSum=0.076;QD=17.14;ReadPosRankSum=0.573;VQSLOD=3.2365;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:117,133:250:99:3639,0,3323 11 56058197 56058197 G A exonic OR8H1 synonymous SNV OR8H1:NM_001005199:exon1:c.C342T:p.L114L 0.43 0.19 0.51 0.62 0.37 0.57 0.4231 0.2189 0.5722 0.6182 0.3949 0.3763 0.4163 0.5456 0.32 0.21 0.37 0.38 0.38 rs1842674 COSM4145826 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4293 0.2094 0.5505 0.3943 0.6194 0.3950 0.3729 0.4300 0.5403 0.3415 0.2163 0.5358 0.39 0.6034 0.3877 0.3604 0.3918 het 3926.27 238 11 56058197 . G A 3926.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.188;DP=238;Dels=0.00;FS=10.775;HRun=1;HaplotypeScore=3.8444;MQ=59.62;MQ0=0;MQRankSum=-0.883;QD=16.50;ReadPosRankSum=0.164;VQSLOD=3.7596;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,114:238:99:3275,0,3632 11 56058535 56058535 C T exonic OR8H1 nonsynonymous SNV OR8H1:NM_001005199:exon1:c.G4A:p.G2S 0.078 0.0053 0.082 0.086 0.13 0.11 0.1178 0.0259 0.0608 0.0921 0.0835 0.1441 0.1217 0.1438 0.1 0.027 0.14 0.033 0.14 rs11600896 . . . . . . . . . . . . . 0.308 0.141 T 0.0 0.026 B 0.001 0.040 B 0.391 0.045 N 1 0.090 P -0.69 0.019 N 4.12 0.029 T -0.63 0.185 N 0.025 0.007 -0.905 0.475 T 0.000 0.000 T . . . -0.674 0.046 0.083 0.438 0.033 0.041 0.095 N c -1.575 -1.632 0.000 0.041 0.487 0.133 0 -4.63 0.031 -1.621 0.021 -0.475 0.054 0.000 0.063 0.005 0.090 3.462 0.071 . . . 0.1155 0.0230 0.0667 0.1875 0.0901 0.0894 0.1431 0.1293 0.1294 0.0923 0.0280 0.0835 0.1589 0.0877 0.0758 0.1322 0.1090 het 1490.10 127 11 56058535 . C T 1490.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.499;DP=127;Dels=0.00;FS=8.333;HRun=0;HaplotypeScore=3.8201;MQ=59.46;MQ0=0;MQRankSum=-0.461;QD=11.64;ReadPosRankSum=0.553;VQSLOD=4.4230;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,61:127:99:1520,0,1701 11 56086147 56086147 T G exonic OR8K3 nonsynonymous SNV OR8K3:NM_001005202:exon1:c.T365G:p.L122R 0.79 0.76 0.82 0.87 0.68 0.83 0.7218 0.7318 0.8362 0.8790 0.7755 0.6585 0.7130 0.7877 0.68 0.73 0.66 0.76 0.65 rs960193 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.201 P -2.75 0.000 N 3.55 0.048 T 5.87 0.000 N 0.046 0.026 -1.013 0.261 T 0.000 0.000 T . . . -0.954 0.034 0.020 0.140 0.003 0.022 0.064 N c -1.453 -1.154 0.000 0.029 0.487 0.133 0 1.65 0.229 4.306 0.587 -0.020 0.129 0.795 0.294 0.971 0.463 5.75 0.173 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7261 0.7289 0.8265 0.5827 0.8822 0.7589 0.6624 0.7106 0.7832 0.7115 0.7390 0.7971 0.5728 0.8772 0.7540 0.6651 0.7193 het 1820.07 138 11 56086147 . T G 1820.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.749;DP=138;Dels=0.00;FS=1.356;HRun=0;HaplotypeScore=0.5784;MQ=58.92;MQ0=0;MQRankSum=-0.565;QD=13.19;ReadPosRankSum=-0.006;VQSLOD=6.4125;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,72:138:99:1850,0,1841 11 56113516 56113516 T C exonic OR8K1 startloss OR8K1:NM_001002907:exon1:c.T2C:p.N2_M21del 0.78 0.75 0.81 0.86 0.67 0.83 0.7243 0.7228 0.8346 0.8781 0.7746 0.6625 0.7104 0.8001 0.68 0.72 0.66 0.76 0.63 rs1905055 . . . . . . . . . . . . . 0.002 0.721 D 0.009 0.139 B 0.006 0.112 B . . . 0.000 0.588 P . . . 8.29 0.003 T -0.5 0.158 N 0.102 0.106 -0.931 0.440 T 0.000 0.000 T . . . 0.064 0.100 3.230 0.451 0.035 0.131 0.175 N c -1.049 -1.095 0.000 0.012 0.487 0.133 0 2.01 0.254 0.112 0.152 -0.292 0.083 0.000 0.063 0.000 0.016 5.128 0.141 . . . 0.7270 0.7206 0.8250 0.5909 0.8828 0.7604 0.6639 0.7112 0.7873 0.7098 0.7304 0.7959 0.5695 0.8758 0.7543 0.6669 0.7188 het 1051.03 71 11 56113516 . T C 1051.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.086;DP=71;Dels=0.00;FS=2.544;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=-0.813;QD=14.80;ReadPosRankSum=0.030;VQSLOD=5.6962;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,40:71:99:1081,0,788 11 56113575 56113575 A G exonic OR8K1 nonsynonymous SNV OR8K1:NM_001002907:exon1:c.A61G:p.M21V 0.46 0.23 0.61 0.64 0.37 0.58 0.4371 0.2587 0.6578 0.6468 0.3945 0.3768 0.4347 0.5466 0.33 0.25 0.37 0.39 0.34 rs10896271 . . . . . . . . . . . . . 0.258 0.167 T 0.006 0.126 B 0.006 0.112 B 0.554 0.114 N 1 0.090 P -0.03 0.050 N 7.47 0.004 T -1.61 0.387 N 0.018 0.003 -1.088 0.059 T 0.000 0.000 T . . . -0.541 0.053 0.174 0.563 0.054 0.015 0.048 N c -1.266 -1.266 0.000 0.035 0.487 0.133 0 -4.56 0.032 -4.608 0.002 -0.376 0.066 0.000 0.063 0.806 0.338 7.837 0.284 . . . 0.4460 0.2509 0.6375 0.3959 0.6467 0.3944 0.3725 0.4482 0.5407 0.3556 0.2545 0.6067 0.3907 0.6256 0.3866 0.3604 0.4022 het 1003.29 88 11 56113575 . A G 1003.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.137;DP=88;Dels=0.00;FS=4.488;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;MQRankSum=-1.115;QD=11.40;ReadPosRankSum=0.915;VQSLOD=5.8428;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,42:88:99:1033,0,1162 11 56113593 56113593 C A exonic OR8K1 nonsynonymous SNV OR8K1:NM_001002907:exon1:c.C79A:p.P27T 0.46 0.21 0.6 0.64 0.37 0.58 0.4360 0.2497 0.6573 0.6464 0.3948 0.3766 0.4317 0.5453 0.33 0.25 0.37 0.38 0.38 rs10896272 . . . . . . . . . . . . . 0.022 0.486 D 0.224 0.287 B 0.089 0.282 B 0.005 0.337 N 1 0.090 P 1.995 0.543 M 7.44 0.004 T -6.05 0.898 D 0.208 0.255 -1.097 0.044 T 0.000 0.000 T . . . 3.391 0.466 23.0 0.984 0.402 0.156 0.188 N c -0.288 -0.310 0.000 0.058 0.487 0.133 0 4.26 0.497 0.266 0.182 0.858 0.375 0.000 0.063 0.017 0.128 8.944 0.347 . . . 0.4452 0.2417 0.6372 0.3956 0.6466 0.3945 0.3724 0.4486 0.5403 0.3539 0.2487 0.6043 0.3907 0.6248 0.3864 0.3602 0.4027 het 1185.37 98 11 56113593 . C A 1185.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.137;DP=98;Dels=0.00;FS=10.238;HRun=0;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;MQRankSum=-0.639;QD=12.10;ReadPosRankSum=-1.144;VQSLOD=4.4326;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,49:98:99:1215,0,1359 11 56127746 56127746 A G exonic OR8J1 synonymous SNV OR8J1:NM_001005205:exon1:c.A24G:p.R8R 0.9 0.94 0.9 0.88 0.88 0.89 0.8855 0.9414 0.8971 0.8512 0.8063 0.8878 0.8920 0.8827 0.9 0.94 0.88 0.87 0.87 rs7942390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8812 0.9424 0.8974 0.9168 0.8514 0.8121 0.8840 0.8958 0.8807 0.8909 0.9475 0.9021 0.9172 0.8323 0.8192 0.8810 0.8727 hom 2784.76 94 11 56127746 . A G 2784.76 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8110;MQ=47.15;MQ0=4;QD=29.63;VQSLOD=3.1377;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2818,217,0 11 56128081 56128081 A G exonic OR8J1 nonsynonymous SNV OR8J1:NM_001005205:exon1:c.A359G:p.Y120C 0.22 0.25 0.19 0.14 0.33 0.17 0.2798 0.2782 0.1658 0.1216 0.2252 0.3420 0.2931 0.2130 0.32 0.28 0.34 0.24 0.34 rs10896290 COSM1180651 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.029 0.457 D 0.108 0.245 B 0.109 0.298 B 0.000 0.559 D 0.590 0.310 P 3.125 0.882 M 7.03 0.005 T -8.44 0.972 D 0.388 0.448 -0.963 0.385 T 0.000 0.000 T . . . 3.156 0.439 22.6 0.991 0.518 0.978 0.768 D c 0.169 0.223 0.000 0.055 0.526 0.212 0 4.76 0.600 1.873 0.390 1.171 0.901 0.258 0.247 0.979 0.486 13.374 0.600 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2749 0.2804 0.1749 0.4192 0.1179 0.2414 0.3379 0.2915 0.2171 0.2910 0.2700 0.2045 0.4305 0.1234 0.2463 0.3345 0.2802 het 2035.75 181 11 56128081 . A G 2035.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.332;DP=181;Dels=0.00;FS=1.180;HRun=0;HaplotypeScore=8.5792;MQ=58.41;MQ0=0;MQRankSum=0.709;QD=11.25;ReadPosRankSum=1.245;VQSLOD=4.5095;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,78:181:99:2066,0,2777 11 56128524 56128524 C T exonic OR8J1 synonymous SNV OR8J1:NM_001005205:exon1:c.C802T:p.L268L 0.9 0.94 0.9 0.88 0.88 0.89 0.8853 0.9412 0.8975 0.8511 0.8058 0.8869 0.8892 0.8848 0.9 0.94 0.88 0.87 0.89 rs7928704 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8781 0.9416 0.8925 0.9064 0.8492 0.8095 0.8838 0.8943 0.8800 0.8904 0.9473 0.9021 0.9172 0.8302 0.8186 0.8804 0.8724 hom 6654.63 215 11 56128524 . C T 6654.63 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.539;DP=215;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7734;MQ=59.67;MQ0=0;MQRankSum=-0.620;QD=30.95;ReadPosRankSum=1.716;VQSLOD=8.4979;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,214:215:99:6625,501,0 11 56143966 56143966 C T exonic OR8U1;OR8U8 synonymous SNV OR8U1:NM_001005204:exon1:c.C867T:p.I289I 0.2 0.25 0.16 0.14 0.27 0.17 0.2346 0.2598 0.1377 0.1212 0.1771 0.2754 0.2517 0.2041 0.27 0.25 0.27 0.15 0.24 rs12291978 COSM4145890 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2510 0.3006 0.1646 0.3673 0.1540 0.1964 0.2885 0.2677 0.2277 0.4610 0.5304 0.4784 0.4029 0.4833 0.5049 0.4130 0.4761 het 2109.20 195 11 56143966 . C T 2109.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.721;DP=195;Dels=0.00;FS=0.568;HRun=1;HaplotypeScore=7.7622;MQ=59.31;MQ0=0;MQRankSum=0.508;QD=10.82;ReadPosRankSum=-0.709;VQSLOD=3.8806;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:109,86:195:99:2139,0,2952 11 56143977 56143977 A G exonic OR8U1 nonsynonymous SNV OR8U1:NM_001005204:exon1:c.A878G:p.Q293R 0.32 0.55 0.24 0.14 0.36 0.22 0.3222 0.5307 0.1809 0.1213 0.3020 0.3598 0.3367 0.2576 0.41 0.51 0.36 0.28 0.25 rs12272403 COSM3752475 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 1.000 0.090 P -3.005 0.000 N 8.03 0.003 T 3.56 0.001 N 0.087 0.213 -1.003 0.289 T 0.000 0.000 T . . . -0.993 0.032 0.016 0.132 0.003 0.113 0.163 N c -1.261 -0.944 0.000 0.057 0.487 0.133 0 4.78 0.605 4.326 0.588 0.087 0.193 0.957 0.332 0.040 0.157 9.794 0.397 . . . 0.3398 0.5653 0.2196 0.3977 0.1600 0.3161 0.3770 0.3585 0.2890 0.5294 0.6488 0.4911 0.4239 0.4797 0.5386 0.4650 0.5179 het 1652.62 157 11 56143977 . A G 1652.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.320;DP=157;Dels=0.00;FS=2.323;HRun=1;HaplotypeScore=5.5798;MQ=59.71;MQ0=0;MQRankSum=-0.371;QD=10.53;ReadPosRankSum=-0.439;VQSLOD=4.8080;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,67:157:99:1683,0,2545 11 56184888 56184888 G A exonic OR5R1 nonsynonymous SNV OR5R1:NM_001004744:exon1:c.C821T:p.A274V 0.45 0.18 0.59 0.64 0.37 0.58 0.4326 0.2179 0.6552 0.6464 0.3942 0.3759 0.4306 0.5449 0.32 0.22 0.37 0.37 0.38 rs998544 COSM5431634 1(oesophagus) . . . . . . . . . . . 0.067 0.359 T 0.999 0.764 D 0.986 0.754 D 0.006 0.324 U 1 0.090 P 0.94 0.237 L 1.37 0.342 T -3.38 0.667 D 0.097 0.098 -0.958 0.395 T 0.000 0.000 T . . . 2.267 0.334 17.95 0.995 0.672 0.111 0.162 N c -0.325 -0.454 0.000 0.012 0.500 0.196 0 1.53 0.221 0.076 0.145 0.055 0.163 0.000 0.063 0.955 0.433 4.936 0.132 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4427 0.2100 0.6350 0.3952 0.6467 0.3945 0.3720 0.4466 0.5398 0.3451 0.2190 0.6019 0.3907 0.6244 0.3866 0.3598 0.4031 het 1821.27 129 11 56184888 . G A 1821.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.701;DP=129;Dels=0.00;FS=3.231;HRun=2;HaplotypeScore=1.8305;MQ=57.59;MQ0=0;MQRankSum=0.139;QD=14.12;ReadPosRankSum=0.097;VQSLOD=4.9136;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,68:129:99:1851,0,1613 11 56185159 56185159 A G exonic OR5R1 nonsynonymous SNV OR5R1:NM_001004744:exon1:c.T550C:p.F184L 0.28 0.54 0.19 0.14 0.27 0.17 0.2573 0.5088 0.1500 0.1211 0.1773 0.2750 0.2616 0.2048 0.35 0.5 0.28 0.34 0.29 rs7930678 COSM3752476 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -2.755 0.000 N 9.01 0.000 T 3.57 0.001 N 0.056 0.039 -0.899 0.481 T 0.000 0.000 T . . . -0.085 0.086 1.846 0.611 0.064 0.002 0.013 N c -1.507 -1.278 0.000 0.012 0.487 0.133 0 2.66 0.305 -0.141 0.102 0.093 0.196 0.001 0.137 0.961 0.442 3.824 0.083 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2482 0.5188 0.1591 0.3538 0.1178 0.1923 0.2706 0.2495 0.2091 0.3176 0.5069 0.1718 0.3510 0.1239 0.2013 0.2686 0.2352 het 1666.88 113 11 56185159 . A G 1666.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.490;DP=113;Dels=0.00;FS=1.558;HRun=4;HaplotypeScore=1.4972;MQ=58.56;MQ0=0;MQRankSum=-0.563;QD=14.75;ReadPosRankSum=0.711;VQSLOD=5.8581;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,58:113:99:1697,0,1630 11 56185327 56185327 T C exonic OR5R1 nonsynonymous SNV OR5R1:NM_001004744:exon1:c.A382G:p.S128G 0.28 0.54 0.18 0.12 0.27 0.17 0.2543 0.5087 0.1317 0.1100 0.1770 0.2745 0.2594 0.2041 0.35 0.5 0.28 0.34 0.3 rs7933772 COSM3752477 1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.077 0.228 B 0.071 0.265 B 0.038 0.243 U 1.000 0.090 P 2.35 0.677 M 7.13 0.005 T -1.39 0.344 N 0.061 0.045 -1.038 0.178 T 0.000 0.000 T . . . 2.769 0.394 21.2 0.995 0.704 0.234 0.219 N c -0.312 -0.264 0.001 0.085 0.487 0.133 0 4.66 0.577 0.493 0.220 1.046 0.672 0.000 0.063 0.057 0.169 10.967 0.464 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2449 0.5186 0.1425 0.3520 0.1076 0.1921 0.2704 0.2465 0.2083 0.3160 0.5061 0.1502 0.3533 0.1093 0.2012 0.2685 0.2357 het 2181.49 142 11 56185327 . T C 2181.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.954;DP=142;Dels=0.00;FS=7.760;HRun=1;HaplotypeScore=2.7407;MQ=59.25;MQ0=0;MQRankSum=-1.146;QD=15.36;ReadPosRankSum=-0.809;VQSLOD=3.6242;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,79:142:99:2211,0,1612 11 56185345 56185345 A G exonic OR5R1 nonsynonymous SNV OR5R1:NM_001004744:exon1:c.T364C:p.C122R 0.77 0.74 0.83 0.78 0.72 0.8 0.7655 0.7708 0.8432 0.7675 0.7165 0.7467 0.7731 0.8022 0.75 0.76 0.74 0.71 0.74 rs6591324 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.332 N 0.028 0.389 P -3 0.000 N 3.55 0.048 T 7.37 0.000 N 0.05 0.031 -1.026 0.216 T 0.000 0.000 T . . . -0.091 0.085 1.794 0.644 0.073 0.047 0.103 N c -1.261 -0.935 0.000 0.029 0.487 0.133 0 2.72 0.310 2.694 0.465 -0.247 0.091 0.998 0.411 0.034 0.151 6.081 0.190 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7655 0.7732 0.8315 0.7756 0.7645 0.7215 0.7420 0.7766 0.8020 0.7438 0.7740 0.8182 0.7682 0.7491 0.7196 0.7263 0.75 hom 4254.90 136 11 56185345 . A G 4254.90 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;QD=31.29;VQSLOD=9.4484;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4254,343,0 11 56185689 56185689 A G exonic OR5R1 nonsynonymous SNV OR5R1:NM_001004744:exon1:c.T20C:p.I7T 0.28 0.54 0.19 0.14 0.27 0.17 0.2639 0.5139 0.1508 0.1220 0.1776 0.2783 0.2735 0.2318 0.35 0.5 0.28 0.34 0.26 rs7931261 COSM1127748 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.099 0.199 N 1 0.090 P -3 0.000 N 4.13 0.029 T 3.95 0.001 N 0.034 0.014 -0.979 0.353 T 0.000 0.000 T . . . -0.727 0.044 0.062 0.585 0.059 0.001 0.005 N c -1.495 -1.247 0.000 0.060 0.487 0.133 0 5.7 0.886 1.082 0.302 0.093 0.196 0.005 0.169 0.700 0.309 9.712 0.392 . . . 0.2539 0.5207 0.1692 0.3657 0.1188 0.1943 0.2730 0.2587 0.2165 0.3177 0.5078 0.1723 0.3467 0.1238 0.2009 0.2683 0.2337 het 1010.65 111 11 56185689 . A G 1010.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.830;DP=111;Dels=0.00;FS=0.758;HRun=0;HaplotypeScore=1.8907;MQ=59.38;MQ0=0;MQRankSum=0.015;QD=9.10;ReadPosRankSum=-1.517;VQSLOD=6.1943;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,42:111:99:1041,0,1784 11 56237722 56237722 T A exonic OR5M3 nonsynonymous SNV OR5M3:NM_001004742:exon1:c.A252T:p.L84F 0.13 0.029 0.12 0.13 0.22 0.16 0.1917 0.0618 0.1022 0.1174 0.2001 0.2388 0.2152 0.1799 0.18 0.069 0.24 0.14 0.27 rs605734 COSM3752479 1(large_intestine) . . . . . . . . . . . 0.059 0.375 T 0.022 0.174 B 0.049 0.237 B 0.146 0.181 N 1 0.090 P 2.25 0.640 M 4.93 0.014 T -3.06 0.630 D 0.113 0.123 -0.926 0.447 T 0.000 0.000 T . . . -0.526 0.054 0.190 0.961 0.280 0.039 0.091 N c -1.291 -1.363 0.000 0.012 0.487 0.133 0 -3.6 0.043 -2.707 0.009 -0.655 0.041 0.000 0.063 0.762 0.325 8.752 0.336 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1904 0.0594 0.1130 0.2693 0.1150 0.2101 0.2334 0.2039 0.1847 0.1755 0.0603 0.1301 0.3013 0.1236 0.2210 0.2352 0.2127 het 1002.26 76 11 56237722 . T A 1002.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.365;DP=76;Dels=0.00;FS=1.841;HRun=2;HaplotypeScore=2.5728;MQ=58.75;MQ0=0;MQRankSum=0.603;QD=13.19;ReadPosRankSum=-0.863;VQSLOD=6.0315;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,39:76:99:1032,0,970 11 56310222 56310222 C T exonic OR5M11 nonsynonymous SNV OR5M11:NM_001005245:exon1:c.G512A:p.S171N 0.69 0.36 0.77 0.88 0.75 0.85 0.7449 0.4140 0.8105 0.8511 0.7423 0.7489 0.7545 0.8253 0.65 0.44 0.75 0.61 . rs628524 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.090 P -2.205 0.001 N 9.04 0.000 T 3.73 0.001 N 0.01 0.001 -1.000 0.299 T 0.000 0.000 T . . . 0.298 0.123 5.674 0.138 0.003 0.009 0.034 N c -1.287 -1.001 0.000 0.069 0.487 0.133 0 3.98 0.452 0.022 0.133 -0.338 0.072 0.000 0.063 0.706 0.311 8.636 0.329 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7481 0.4018 0.8015 0.7098 0.8514 0.7436 0.7458 0.7607 0.8256 0.6571 0.4172 0.7978 0.7219 0.8331 0.7481 0.7411 0.7479 hom 2078.23 59 11 56310222 . C T 2078.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.674;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5326;MQ=57.92;MQ0=0;MQRankSum=1.380;QD=35.22;ReadPosRankSum=-0.851;VQSLOD=7.8371;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,58:59:99:2111,151,0 11 56344260 56344260 A G exonic OR5M10 nonsynonymous SNV OR5M10:NM_001004741:exon1:c.T938C:p.I313T 0.13 0.029 0.098 0.16 0.2 0.16 0.1893 0.0605 0.0976 0.1486 0.1777 0.2263 0.2018 0.2079 0.17 0.066 0.22 0.087 . rs10896488 COSM3752481 1(large_intestine) . . . . . . . . . . . 0.141 0.255 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.345 0.112 N 3.95 0.034 T 0.21 0.048 N 0.03 0.021 -0.913 0.465 T 0.000 0.000 T . . . -0.748 0.043 0.056 0.356 0.022 0.018 0.055 N c -1.739 -1.748 0.000 0.012 0.487 0.133 0 -1.86 0.073 -2.279 0.012 -1.006 0.022 0.000 0.063 0.001 0.043 5.819 0.177 . . . 0.1827 0.0574 0.1071 0.2566 0.1453 0.1892 0.2183 0.1909 0.1904 0.1666 0.0578 0.1220 0.2848 0.1510 0.2016 0.2216 0.1945 het 4006.18 222 11 56344260 . A G 4006.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.216;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4432;MQ=58.71;MQ0=0;MQRankSum=0.086;QD=18.05;ReadPosRankSum=0.130;VQSLOD=5.0704;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,128:222:99:3485,0,2323 11 56344993 56344993 C A exonic OR5M10 nonsynonymous SNV OR5M10:NM_001004741:exon1:c.G205T:p.V69L 0.65 0.35 0.72 0.87 0.65 0.79 0.6779 0.3913 0.7775 0.8506 0.6021 0.6654 0.6804 0.7687 0.58 0.41 0.67 0.56 . rs10792043 . . . . . . . . . . . . . 0.139 0.257 T 0.09 0.236 B 0.063 0.256 B . . . 0.998 0.221 P 0.37 0.121 N 5.64 0.008 T -2.01 0.463 N 0.033 0.020 -0.958 0.396 T 0.000 0.000 T . . . 3.967 0.534 23.6 0.995 0.701 0.058 0.116 N c -0.516 -0.451 0.000 0.046 0.487 0.133 0 4.04 0.461 -1.212 0.031 0.894 0.410 0.000 0.063 0.239 0.226 7.392 0.259 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6818 0.3798 0.7674 0.6904 0.8512 0.6117 0.6599 0.6880 0.7695 0.5895 0.3900 0.7536 0.7119 0.8308 0.6186 0.6569 0.6449 hom 4911.95 165 11 56344993 . C A 4911.95 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.9399;MQ=45.94;MQ0=8;QD=29.77;VQSLOD=2.7089;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,164:165:99:4911,403,0 11 56380547 56380550 CAGA - exonic OR5M1 frameshift deletion OR5M1:NM_001004740:exon1:c.429_432del:p.C143Wfs*18 0.13 0.031 0.098 0.16 0.2 0.16 0.1839 0.0587 0.0971 0.1462 0.1773 0.2223 0.1998 0.1854 0.17 0.063 0.21 . . rs72003051 COSM5826975 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1808 0.0560 0.1062 0.2535 0.1446 0.1878 0.2160 0.1907 0.1883 0.1646 0.0563 0.1208 0.2848 0.1504 0.2011 0.2190 0.1949 het 1622.34 83 11 56380546 . CCAGA C 1622.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.769;DP=83;FS=0.860;HRun=0;HaplotypeScore=372.0741;MQ=53.73;MQ0=0;MQRankSum=0.611;QD=18.23;ReadPosRankSum=0.271;set=variant2 GT:AD:DP:GQ:PL 0/1:47,42:83:99:1661,0,3338 11 56409010 56409010 A T exonic OR5AP2 nonsynonymous SNV OR5AP2:NM_001002925:exon1:c.T906A:p.D302E 0.027 0.003 0.039 . 0.042 0.065 0.0459 0.0098 0.0246 0.0001 0.0298 0.0548 0.0520 0.0780 0.037 0.0089 0.051 0.011 0.025 rs61747872 . . . . . . . . . . . . . 0.655 0.049 T 0.001 0.067 B 0.006 0.112 B 0.000 0.513 D 0.975 0.254 N 0.54 0.137 N 1.26 0.363 T -1.19 0.303 N 0.087 0.083 -1.031 0.201 T 0.010 0.038 T . . . 0.132 0.106 3.953 0.652 0.075 0.092 0.148 N c -0.666 -0.539 0.000 0.038 0.487 0.133 0 4.94 0.645 0.248 0.178 1.169 0.901 0.937 0.323 0.766 0.326 10.34 0.429 . . . 0.0442 0.0084 0.0209 0.0918 0.0003 0.0317 0.0517 0.0556 0.0769 0.0310 0.0081 0.0322 0.0762 0.0006 0.0272 0.0473 0.0348 het 737.93 79 11 56409010 . A T 737.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.690;DP=79;Dels=0.00;FS=0.885;HRun=1;HaplotypeScore=0.9992;MQ=58.46;MQ0=0;MQRankSum=2.174;QD=9.34;ReadPosRankSum=-0.296;VQSLOD=4.7418;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,31:79:99:768,0,1319 11 56431216 56431216 C T exonic OR5AR1 stopgain OR5AR1:NM_001004730:exon1:c.C55T:p.Q19X 0.62 0.27 0.74 0.79 0.69 0.78 0.6887 0.3299 0.7900 0.7730 0.7155 0.6950 0.7020 0.7624 0.57 0.34 0.69 0.55 0.7 rs11228710 COSM4145892 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . 0.000 0.449 D 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 9.240 0.962 35 0.998 0.842 0.156 0.188 N c 0.814 0.611 0.000 0.057 0.487 0.133 0 5.33 0.756 0.956 0.286 0.913 0.425 0.002 0.151 0.996 0.625 14.481 0.670 . . . 0.6949 0.3211 0.7774 0.6499 0.7702 0.7174 0.6908 0.7077 0.7589 0.5936 0.3372 0.7687 0.6523 0.7575 0.7184 0.6773 0.7039 hom 8010.25 250 11 56431216 . C T 8010.25 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4658;MQ=59.16;MQ0=0;QD=32.04;VQSLOD=9.3921;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8009,620,0 11 56510623 56510623 A G exonic OR9G4 nonsynonymous SNV OR9G4:NM_001005284:exon1:c.T665C:p.V222A 0.19 0.22 0.16 0.085 0.3 0.16 0.2537 0.2357 0.1424 0.0820 0.2009 0.3180 0.2439 0.1944 0.29 0.24 0.32 0.17 0.29 rs513873 COSM3752485 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.212 0.195 T 0.999 0.764 D 0.994 0.807 D 0.003 0.356 N 0.554 0.313 P 0.92 0.235 L 1.16 0.381 T -1.87 0.437 N 0.191 0.234 -0.992 0.322 T 0.000 0.000 T . . . 3.631 0.494 23.2 0.997 0.793 0.436 0.269 N c 0.233 0.202 0.007 0.114 0.487 0.133 0 5.07 0.680 1.777 0.380 1.185 0.907 0.001 0.137 0.999 0.750 13.822 0.627 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2494 0.2376 0.1541 0.3707 0.0817 0.2104 0.3173 0.2557 0.1952 0.2665 0.2425 0.1945 0.3841 0.0938 0.2101 0.3150 0.2505 het 1256.10 117 11 56510623 . A G 1256.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.693;DP=117;Dels=0.00;FS=3.641;HRun=0;HaplotypeScore=2.6616;MQ=58.42;MQ0=0;MQRankSum=-0.356;QD=10.74;ReadPosRankSum=1.577;VQSLOD=5.1683;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,49:117:99:1286,0,1786 11 56510672 56510672 T C exonic OR9G4 nonsynonymous SNV OR9G4:NM_001005284:exon1:c.A616G:p.N206D 0.99 0.95 1. 1. 1. 1. 0.9969 0.97 0.9976 0.9998 1 0.9996 0.9989 0.9999 0.99 0.97 1. 0.99 1. rs577576 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.021 0.270 N 1 0.090 P -1.835 0.003 N 9.0 0.000 T 3.13 0.001 N 0.007 0.000 -0.960 0.391 T 0.000 0.000 T . . . -0.230 0.074 0.950 0.672 0.081 0.016 0.052 N c -1.111 -0.857 0.002 0.090 0.487 0.133 0 5.07 0.680 0.995 0.291 0.062 0.168 0.009 0.180 0.931 0.405 9.180 0.361 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9977 0.9695 0.9975 0.9998 1 1 0.9999 0.9982 0.9999 0.9906 0.9673 0.9988 1 1 1 0.9999 0.9980 hom 2320.75 63 11 56510672 . T C 2320.75 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;QD=36.84;VQSLOD=9.6450;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2354,187,0 11 56756399 56756399 G T exonic OR5AK2 nonsynonymous SNV OR5AK2:NM_001005323:exon1:c.G11T:p.G4V 0.14 0.025 0.078 0.39 0.075 0.13 0.0997 0.0280 0.0814 0.3749 0.0909 0.0702 0.0841 0.1433 0.055 0.025 0.071 0.17 0.074 rs10896563 COSM5425546 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.099 0.306 T 0.262 0.298 B 0.194 0.349 B 0.525 0.052 N 1.000 0.090 P 1.29 0.325 L 7.08 0.005 T -2.54 0.550 D 0.033 0.013 -1.097 0.044 T 0.000 0.000 T . . . 0.170 0.110 4.363 0.821 0.135 0.060 0.118 N c -1.172 -1.329 0.000 0.072 0.487 0.133 0 -4.16 0.036 -1.790 0.018 -0.420 0.060 0.000 0.063 0.001 0.043 6.529 0.214 . . . 0.0974 0.0257 0.0795 0.0171 0.3815 0.0937 0.0706 0.0801 0.1182 0.0783 0.0292 0.0706 0.0166 0.4258 0.0880 0.0689 0.0776 het 1456.83 161 11 56756399 . G T 1456.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.229;DP=161;Dels=0.00;FS=4.077;HRun=0;HaplotypeScore=2.8658;MQ=58.88;MQ0=0;MQRankSum=-0.228;QD=9.05;ReadPosRankSum=0.315;VQSLOD=4.8272;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,64:161:99:1487,0,2539 11 56756664 56756664 G A exonic OR5AK2 nonsynonymous SNV OR5AK2:NM_001005323:exon1:c.G276A:p.M92I 0.71 0.95 0.56 0.71 0.62 0.58 0.6355 0.9002 0.6043 0.7119 0.5600 0.6058 0.6071 0.6028 0.7 0.89 0.6 0.76 0.66 rs2853083 COSM3752491 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.445 N 1 0.090 P -2.86 0.000 N 7.58 0.004 T 2.88 0.002 N 0.053 0.035 -0.902 0.478 T 0.000 0.000 T . . . -2.189 0.006 0.001 0.333 0.020 0.007 0.030 N c -2.161 -2.078 0.002 0.093 0.487 0.133 0 -4.2 0.035 -2.104 0.014 -0.350 0.070 0.000 0.063 0.001 0.043 0.972 0.013 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6282 0.9065 0.5967 0.5662 0.7219 0.5628 0.6101 0.6077 0.6080 0.6941 0.9025 0.6122 0.5563 0.7469 0.5484 0.6151 0.5898 hom 2867.95 95 11 56756664 . G A 2867.95 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.19;VQSLOD=14.4722;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2901,229,0 11 56757021 56757021 G A exonic OR5AK2 synonymous SNV OR5AK2:NM_001005323:exon1:c.G633A:p.G211G 0.16 0.13 0.11 0.15 0.22 0.21 0.1746 0.1219 0.1181 0.1303 0.1565 0.1928 0.1927 0.2035 0.16 0.12 0.18 0.13 0.15 rs61886711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1708 0.1199 0.1118 0.2153 0.1313 0.1568 0.1897 0.1834 0.2073 0.1599 0.1205 0.1232 0.2086 0.1265 0.1601 0.1878 0.1540 het 2752.73 218 11 56757021 . G A 2752.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.260;DP=218;DS;Dels=0.00;FS=1.147;HRun=0;HaplotypeScore=3.8516;MQ=58.50;MQ0=0;MQRankSum=1.528;QD=12.63;ReadPosRankSum=0.641;VQSLOD=5.4544;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:112,106:218:99:2783,0,3235 11 56954846 56954846 C T exonic LRRC55 synonymous SNV LRRC55:NM_001005210:exon2:c.C918T:p.F306F 0.24 0.14 0.26 0.19 0.38 0.27 0.3152 0.1835 0.2468 0.1736 0.2981 0.3786 0.3245 0.2703 0.31 0.18 0.38 0.18 0.3 rs716745 COSM3752492 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3116 0.1765 0.2466 0.3565 0.1640 0.2984 0.3807 0.3262 0.2745 0.2977 0.1827 0.2733 0.34 0.1549 0.2987 0.3797 0.3080 het 1724.25 130 11 56954846 . C T 1724.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.126;DP=130;Dels=0.00;FS=3.151;HRun=2;HaplotypeScore=1.9881;MQ=59.10;MQ0=0;MQRankSum=1.157;QD=13.26;ReadPosRankSum=-0.580;VQSLOD=6.4496;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,64:130:99:1754,0,1801 11 57004344 57004344 G T exonic APLNR synonymous SNV APLNR:NM_005161:exon1:c.C135A:p.G45G 0.58 0.38 0.64 0.71 0.56 0.71 0.5875 0.4297 0.6430 0.7060 0.6003 0.5632 0.6060 0.6770 0.52 0.44 0.55 0.59 0.51 rs948847 COSM292362 1(bone);1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5932 0.4312 0.6455 0.6414 0.7085 0.6046 0.5529 0.5927 0.6743 0.5393 0.4343 0.6301 0.66 0.7097 0.6114 0.5550 0.5799 het 1811.11 157 11 57004344 . G T 1811.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.801;DP=157;Dels=0.00;FS=1.315;HRun=2;HaplotypeScore=3.3351;MQ=59.71;MQ0=0;MQRankSum=1.146;QD=11.54;ReadPosRankSum=1.409;VQSLOD=5.9696;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,72:157:99:1841,0,2420 11 57137371 57137371 G A exonic P2RX3 synonymous SNV P2RX3:NM_002559:exon12:c.G1095A:p.T365T 0.41 0.076 0.48 0.63 0.38 0.62 0.4230 0.1177 0.5208 0.6496 0.4749 0.3849 0.4507 0.5579 0.29 0.13 0.37 0.34 0.31 rs2276039 COSM1178422 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4321 0.1120 0.5211 0.4634 0.6556 0.4701 0.3710 0.4211 0.5550 0.3358 0.1153 0.4748 0.4934 0.6719 0.4760 0.3788 0.4252 het 851.87 74 11 57137371 . G A 851.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.132;DP=74;Dels=0.00;FS=1.985;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=2.142;QD=11.51;ReadPosRankSum=1.294;VQSLOD=5.7749;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,33:74:99:882,0,1001 11 57137424 57137424 C T exonic P2RX3 nonsynonymous SNV P2RX3:NM_002559:exon12:c.C1148T:p.A383V 0.43 0.07 0.49 0.72 0.39 0.63 0.4352 0.1122 0.5288 0.7216 0.4737 0.3953 0.4565 0.5655 0.3 0.12 0.39 0.34 0.32 rs2276038 COSM3752508 1(pancreas);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.257 0.167 T 0.0 0.026 B 0.0 0.013 B 0.411 0.130 N 1 0.090 P -0.69 0.019 N 3.66 0.043 T -0.11 0.087 N 0.022 0.005 -1.084 0.066 T 0.000 0.000 T . . . 0.869 0.177 9.882 0.901 0.188 0.144 0.182 N c -1.152 -1.067 0.914 0.264 0.497 0.185 0 0.075 0.136 0.435 0.211 -0.920 0.025 0.950 0.328 0.019 0.132 2.123 0.035 . . . 0.4443 0.1080 0.5274 0.4658 0.7268 0.4668 0.3833 0.4310 0.5627 0.3465 0.1138 0.4844 0.5132 0.7379 0.4725 0.3932 0.4388 het 1051.96 90 11 57137424 . C T 1051.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.492;DP=90;Dels=0.00;FS=0.810;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=0.596;QD=11.69;ReadPosRankSum=-0.957;VQSLOD=6.4801;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,42:90:99:1082,0,1199 11 57148175 57148175 A G exonic PRG3 nonsynonymous SNV PRG3:NM_006093:exon2:c.T7C:p.C3R 0.96 0.86 0.98 1. 1. 0.99 0.9874 0.8679 0.9948 0.9983 0.9998 0.9997 0.9961 0.9953 0.95 0.87 1. 0.92 0.93 rs669661 . . . . . . . . . . . . . 0.884 0.025 T 0.0 0.026 B 0.0 0.013 B 0.000 0.005 N 1 0.090 P 0.69 0.170 N 3.72 0.040 T 0.62 0.024 N 0.042 0.022 -0.974 0.364 T 0.000 0.000 T . . . 0.654 0.156 8.521 0.539 0.049 0.004 0.020 N c -1.807 -1.878 0.473 0.207 0.497 0.185 0 -5.95 0.020 -0.884 0.042 -1.615 0.009 0.000 0.063 0.001 0.043 3.217 0.063 . . . 0.9898 0.8597 0.9930 0.9999 0.9989 0.9998 0.9997 0.9938 0.9950 0.9617 0.8669 0.9893 1 0.9988 0.9997 0.9996 0.9919 hom 901.62 34 11 57148175 . A G 901.62 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.52;VQSLOD=13.8522;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:69.22:935,69,0 11 57155001 57155001 G A exonic PRG2 nonsynonymous SNV PRG2:NM_001243245:exon6:c.C583T:p.H195Y,PRG2:NM_001302926:exon6:c.C616T:p.H206Y,PRG2:NM_001302927:exon6:c.C616T:p.H206Y,PRG2:NM_002728:exon6:c.C616T:p.H206Y 0.89 0.59 0.97 1. 1. 0.99 0.9674 0.6473 0.9851 0.9985 1 0.9991 0.9845 0.9970 0.88 0.65 1. 0.79 0.97 rs536455 . . . . . . . . . . . . . 0.225 0.186 T 0.031 0.358 B 0.078 0.452 B 0.258 0.154 N 1.000 0.200 P 1.505 0.383 L 2.21 0.184 T -2.91 0.609 D 0.076 0.124 -0.973 0.366 T 0.000 0.000 T . . . 0.926 0.182 10.23 0.988 0.455 0.210 0.210 N c -0.599 -0.623 1.000 0.747 0.758 0.990 0 3.03 0.339 1.186 0.315 1.048 0.713 0.004 0.165 0.392 0.253 6.829 0.229 C-type lectin|C-type lectin fold|C-type lectin\x2c conserved site|C-type lectin-like;C-type lectin|C-type lectin fold|C-type lectin-like . . 0.9743 0.6426 0.9833 0.9991 0.9991 0.9999 0.9992 0.9828 0.9966 0.8991 0.6466 0.9761 0.9967 0.9994 0.9997 0.9993 0.9786 hom 2376.92 76 11 57155001 . G A 2376.92 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=31.28;VQSLOD=9.1752;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2410,184,0 11 57155288 57155288 T C exonic PRG2 synonymous SNV PRG2:NM_001243245:exon5:c.A516G:p.A172A,PRG2:NM_001302926:exon5:c.A549G:p.A183A,PRG2:NM_001302927:exon5:c.A549G:p.A183A,PRG2:NM_002728:exon5:c.A549G:p.A183A 0.94 0.8 0.98 1. 1. 0.99 0.9823 0.8250 0.9913 0.9981 1 0.9994 0.9961 0.9969 0.94 0.84 1. 0.79 0.63 rs630396 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9868 0.8154 0.9908 0.9998 0.9991 1 0.9994 0.9923 0.9968 0.9481 0.8192 0.9869 1 0.9994 1 0.9995 0.9908 hom 352.20 12 11 57155288 . T C 352.20 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.35;VQSLOD=13.7599;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:33.09:385,33,0 11 57157405 57157405 A G exonic PRG2 synonymous SNV PRG2:NM_001243245:exon2:c.T13C:p.L5L,PRG2:NM_001302926:exon2:c.T13C:p.L5L,PRG2:NM_001302927:exon2:c.T13C:p.L5L,PRG2:NM_002728:exon2:c.T13C:p.L5L 0.75 0.62 0.83 0.77 0.74 0.86 0.7569 0.6344 0.8926 0.7765 0.7683 0.7313 0.7688 0.8257 0.7 0.63 0.73 0.75 0.61 rs490358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7638 0.6356 0.8844 0.7743 0.7797 0.7508 0.7275 0.7808 0.8225 0.7177 0.6325 0.8616 0.7980 0.8016 0.7460 0.7402 0.7434 het 2606.38 249 11 57157405 . A G 2606.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.196;DP=249;DS;Dels=0.00;FS=9.856;HRun=4;HaplotypeScore=5.1240;MQ=59.04;MQ0=0;MQRankSum=0.575;QD=10.47;ReadPosRankSum=-0.141;VQSLOD=4.5277;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:146,103:249:99:2636,0,4101 11 57310307 57310307 A G exonic SMTNL1 synonymous SNV SMTNL1:NM_001105565:exon1:c.A192G:p.A64A 0.093 0.071 0.081 0.05 0.11 0.16 0.1159 0.0688 0.0679 0.0679 0.0674 0.1204 0.1094 0.2006 0.1 0.067 0.12 0.043 . rs80123614 COSM4145910;COSM4145911 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1065 0.0628 0.0633 0.1656 0.0577 0.0611 0.1134 0.1166 0.1899 0.0898 0.0632 0.0766 0.1854 0.0623 0.0584 0.1135 0.1029 het 438.40 36 11 57310307 . A G 438.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.420;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6598;MQ=59.36;MQ0=0;MQRankSum=-0.775;QD=12.18;ReadPosRankSum=-0.174;VQSLOD=6.1899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,18:36:99:468,0,489 11 57563991 57563991 C T exonic CTNND1 synonymous SNV CTNND1:NM_001085469:exon3:c.C180T:p.D60D,CTNND1:NM_001085463:exon4:c.C180T:p.D60D,CTNND1:NM_001085464:exon4:c.C180T:p.D60D,CTNND1:NM_001085465:exon4:c.C180T:p.D60D,CTNND1:NM_001085466:exon4:c.C180T:p.D60D,CTNND1:NM_001085467:exon4:c.C180T:p.D60D,CTNND1:NM_001085468:exon4:c.C180T:p.D60D,CTNND1:NM_001206890:exon4:c.C180T:p.D60D,CTNND1:NM_001085462:exon5:c.C483T:p.D161D,CTNND1:NM_001206883:exon5:c.C321T:p.D107D,CTNND1:NM_001206884:exon5:c.C321T:p.D107D,CTNND1:NM_001206886:exon5:c.C321T:p.D107D,CTNND1:NM_001206887:exon5:c.C321T:p.D107D,CTNND1:NM_001206888:exon5:c.C321T:p.D107D,CTNND1:NM_001085458:exon6:c.C483T:p.D161D,CTNND1:NM_001085459:exon6:c.C483T:p.D161D,CTNND1:NM_001085460:exon6:c.C483T:p.D161D,CTNND1:NM_001085461:exon6:c.C483T:p.D161D,CTNND1:NM_001206885:exon6:c.C483T:p.D161D,CTNND1:NM_001206889:exon6:c.C321T:p.D107D,CTNND1:NM_001206891:exon6:c.C321T:p.D107D,CTNND1:NM_001331:exon6:c.C483T:p.D161D 0.27 0.18 0.33 0.1 0.43 0.37 0.3559 0.2254 0.3030 0.1036 0.2924 0.4122 0.3711 0.4000 0.35 0.23 0.41 0.24 . rs10896644 COSM4419981;COSM4419980 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3548 0.2214 0.3007 0.4257 0.1057 0.2936 0.4202 0.3818 0.3989 0.3193 0.2106 0.3258 0.4768 0.0853 0.3097 0.4079 0.3 hom 5835.06 175 11 57563991 . C T 5835.06 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.613;DP=175;Dels=0.00;FS=10.051;HRun=0;HaplotypeScore=0.9665;MQ=59.02;MQ0=0;MQRankSum=-0.876;QD=33.34;ReadPosRankSum=1.214;VQSLOD=3.4929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,174:175:99:5805,452,0 11 57571232 57571232 C T exonic CTNND1 synonymous SNV CTNND1:NM_001085469:exon5:c.C1257T:p.H419H,CTNND1:NM_001085463:exon6:c.C1257T:p.H419H,CTNND1:NM_001085464:exon6:c.C1257T:p.H419H,CTNND1:NM_001085465:exon6:c.C1257T:p.H419H,CTNND1:NM_001085466:exon6:c.C1257T:p.H419H,CTNND1:NM_001085467:exon6:c.C1257T:p.H419H,CTNND1:NM_001085468:exon6:c.C1257T:p.H419H,CTNND1:NM_001206890:exon6:c.C1257T:p.H419H,CTNND1:NM_001085462:exon7:c.C1560T:p.H520H,CTNND1:NM_001206883:exon7:c.C1398T:p.H466H,CTNND1:NM_001206884:exon7:c.C1398T:p.H466H,CTNND1:NM_001206886:exon7:c.C1398T:p.H466H,CTNND1:NM_001206887:exon7:c.C1398T:p.H466H,CTNND1:NM_001206888:exon7:c.C1398T:p.H466H,CTNND1:NM_001085458:exon8:c.C1560T:p.H520H,CTNND1:NM_001085459:exon8:c.C1560T:p.H520H,CTNND1:NM_001085460:exon8:c.C1560T:p.H520H,CTNND1:NM_001085461:exon8:c.C1560T:p.H520H,CTNND1:NM_001206885:exon8:c.C1560T:p.H520H,CTNND1:NM_001206889:exon8:c.C1398T:p.H466H,CTNND1:NM_001206891:exon8:c.C1398T:p.H466H,CTNND1:NM_001331:exon8:c.C1560T:p.H520H 1. 0.99 1. 1. 1. 1. 0.9992 0.9913 0.9994 1 1 1.0000 1 1 1. 0.99 1. 1. . rs11229137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 0.9914 0.9994 1 1 1 1.0000 0.9998 1 0.9972 0.9899 1 1 1 1 1 1 hom 1042.39 38 11 57571232 . C T 1042.39 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=27.43;VQSLOD=8.1608;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:84.26:1075,84,0 11 57799109 57799109 C - exonic OR6Q1 frameshift deletion OR6Q1:NM_001005186:exon1:c.685delC:p.L229Cfs*20 0.12 0.12 0.12 0.022 0.2 0.13 0.1521 0.1508 0.0797 0.0235 0.1334 0.1888 0.1520 0.1305 0.18 0.15 0.19 0.12 0.21 rs34846253 COSM5713196 2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1488 0.1515 0.0838 0.1133 0.0237 0.1349 0.1977 0.1506 0.1326 0.1558 0.1424 0.1053 0.1556 0.0192 0.1364 0.1848 0.1687 het 3498.85 188 11 57799108 . AC A 3498.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.653;DP=188;FS=1.843;HRun=1;HaplotypeScore=487.7480;MQ=59.69;MQ0=0;MQRankSum=1.371;QD=18.61;ReadPosRankSum=-0.938;set=variant2 GT:AD:DP:GQ:PL 0/1:89,99:188:99:3499,0,3522 11 57799371 57799371 G C exonic OR6Q1 nonsynonymous SNV OR6Q1:NM_001005186:exon1:c.G947C:p.G316A 0.42 0.49 0.54 0.24 0.54 0.29 0.4775 0.4945 0.4969 0.2618 0.4411 0.5373 0.4989 0.3403 0.53 0.51 0.55 0.36 0.54 rs1374570 COSM3752513 1(large_intestine) . . . . . . . . . . . 0.059 0.375 T 0.1 0.241 B 0.036 0.216 B 0.432 0.127 N 1.000 0.090 P 0.55 0.145 N 4.45 0.022 T -0.23 0.107 N 0.108 0.120 -1.068 0.099 T 0.000 0.000 T . . . 0.710 0.162 8.890 0.698 0.088 0.061 0.119 N c -0.973 -0.990 0.004 0.103 0.487 0.133 0 2.38 0.283 0.380 0.202 0.035 0.151 0.000 0.063 0.233 0.224 11.799 0.512 . ENSG00000156603.10 Lung 0.4726 0.4880 0.4956 0.5649 0.2479 0.4475 0.5331 0.4939 0.3357 0.4895 0.4707 0.5036 0.5563 0.2450 0.4467 0.5331 0.5122 hom 3040.39 89 11 57799371 . G C 3040.39 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;QD=34.16;VQSLOD=8.5337;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:3073,238,0 11 57947163 57947163 G A exonic OR9Q1 nonsynonymous SNV OR9Q1:NM_001005212:exon3:c.G247A:p.A83T 0.014 0.0015 0.022 . 0.035 0.019 0.0283 0.0062 0.0123 0.0001 0.0482 0.0354 0.0441 0.0309 0.024 0.0064 0.033 0.022 0.025 rs111629598 COSM3752514 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.115 0.285 T 0.839 0.445 P 0.169 0.336 B 0.115 0.192 N 0.998 0.221 N 0.65 0.162 N 7.57 0.004 T -1.72 0.408 N 0.089 0.086 -0.642 0.631 T 0.000 0.001 T . . . 2.635 0.378 20.4 0.988 0.465 0.311 0.240 N c -0.190 -0.210 0.268 0.189 0.487 0.133 0 4.84 0.620 0.179 0.165 1.048 0.713 0.005 0.169 0.039 0.156 13.251 0.593 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0297 0.0058 0.0138 0.0838 0.0002 0.0478 0.0330 0.0415 0.0309 0.0252 0.0049 0.0155 0.0762 0 0.0509 0.0323 0.0397 het 2981.47 225 11 57947163 . G A 2981.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.202;DP=225;DS;Dels=0.00;FS=1.674;HRun=0;HaplotypeScore=2.8810;MQ=59.81;MQ0=0;MQRankSum=-0.300;QD=13.25;ReadPosRankSum=0.607;VQSLOD=6.1052;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:115,110:225:99:3011,0,3115 11 57958497 57958497 T C exonic OR9Q2 nonsynonymous SNV OR9Q2:NM_001005283:exon1:c.T535C:p.C179R 0.2 0.28 0.29 0.073 0.24 0.13 0.2396 0.2884 0.3275 0.0732 0.2291 0.2593 0.2126 0.1607 0.27 0.28 0.26 0.18 0.32 rs34337292 COSM3752516 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.993 0.637 D 0.936 0.654 D 0.000 0.523 D 0.000 0.588 P 4.3 0.983 H 0.02 0.623 T -11.92 0.996 D 0.46 0.512 -1.137 0.015 T 0.000 0.000 T . . . 5.371 0.727 25.9 0.997 0.820 0.988 0.870 D c 0.867 0.758 0.996 0.341 0.487 0.133 0 5.08 0.682 8.017 0.886 1.061 0.807 1.000 0.715 0.998 0.697 14.467 0.669 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000186513.2 Testis 0.2416 0.2853 0.3245 0.1627 0.0698 0.2289 0.2677 0.2306 0.1678 0.2464 0.2806 0.2656 0.1954 0.0543 0.2241 0.2536 0.2291 het 1240.26 86 11 57958497 . T C 1240.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.364;DP=86;Dels=0.00;FS=1.891;HRun=1;HaplotypeScore=5.7268;MQ=59.41;MQ0=0;MQRankSum=1.528;QD=14.42;ReadPosRankSum=-1.475;VQSLOD=4.2607;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,46:86:99:1270,0,1218 11 57958775 57958775 C T exonic OR9Q2 synonymous SNV OR9Q2:NM_001005283:exon1:c.C813T:p.D271D 0.42 0.22 0.38 0.75 0.31 0.51 0.3713 0.2361 0.3772 0.7454 0.3708 0.3200 0.3722 0.4638 0.29 0.24 0.32 0.42 0.22 rs7120468 COSM147237 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3734 0.2406 0.3670 0.2859 0.7546 0.3654 0.3203 0.3606 0.4618 0.3260 0.2387 0.3732 0.28 0.75 0.3607 0.3190 0.3599 het 2431.60 185 11 57958775 . C T 2431.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.758;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8906;MQ=59.14;MQ0=0;MQRankSum=0.922;QD=13.14;ReadPosRankSum=0.149;VQSLOD=5.3340;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,93:185:99:2462,0,2472 11 57971201 57971201 G A exonic OR1S2 synonymous SNV OR1S2:NM_001004459:exon1:c.C453T:p.A151A 0.51 0.28 0.5 0.79 0.42 0.65 0.4724 0.2965 0.5101 0.7754 0.4708 0.4206 0.4901 0.6084 0.38 0.3 0.42 0.56 0.37 rs11229280 COSM147239 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4822 0.2990 0.5039 0.4107 0.8005 0.4686 0.4273 0.4699 0.6056 0.4144 0.2962 0.5349 0.3940 0.8012 0.4667 0.4217 0.4469 het 2365.27 181 11 57971201 . G A 2365.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.739;DP=181;DS;Dels=0.00;FS=2.693;HRun=0;HaplotypeScore=9.5770;MQ=57.96;MQ0=2;MQRankSum=0.909;QD=13.07;ReadPosRankSum=1.710;VQSLOD=3.4946;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,84:181:99:2395,0,2669 11 57982229 57982229 A G exonic OR1S1 nonsynonymous SNV OR1S1:NM_001004458:exon1:c.A13G:p.S5G 0.66 0.38 0.76 0.87 0.66 0.78 0.7001 0.4105 0.8352 0.8705 0.7031 0.6820 0.7009 0.7708 0.59 0.42 0.68 0.65 0.68 rs1966836 COSM4145920 1(pancreas);1(thyroid) . . . . . . . . . . . 0.327 0.132 T 0.016 0.161 B 0.008 0.127 B 0.903 0.074 N 1 0.090 P 1.385 0.346 L 0.69 0.517 T -0.65 0.189 N 0.03 0.011 -0.993 0.318 T 0.000 0.000 T . . . -1.547 0.016 0.002 0.408 0.029 0.003 0.018 N c -1.857 -1.869 0.000 0.012 0.487 0.133 0 -0.787 0.103 0.108 0.151 -0.470 0.054 0.000 0.063 0.006 0.095 0.576 0.007 . ENSG00000156603.10 Muscle_Skeletal 0.7117 0.4096 0.8196 0.5642 0.8779 0.6997 0.6948 0.6902 0.7713 0.6132 0.4015 0.7895 0.5833 0.8676 0.6921 0.6777 0.6599 hom 3509.64 110 11 57982229 . A G 3509.64 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9916;MQ=58.93;MQ0=0;QD=31.91;VQSLOD=9.4945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:110:99:3480,262,0 11 57982579 57982579 C T exonic OR1S1 synonymous SNV OR1S1:NM_001004458:exon1:c.C363T:p.V121V 0.0016 . 0.0058 . 0.004 . 0.0029 0.0014 0.0004 0 0.0006 0.0048 0.0011 0.0004 0.0042 0.002 0.0054 . 0.0082 rs143223688 COSM3722881 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0012 0.0004 0.0001 0 0.0006 0.0052 0.0022 0.0004 0.0023 0.0014 0 0 0 0.0009 0.0037 0.0010 het 2810.44 207 11 57982579 . C T 2810.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.744;DP=207;Dels=0.00;FS=4.064;HRun=1;HaplotypeScore=0.9967;MQ=57.15;MQ0=5;MQRankSum=-0.323;QD=13.58;ReadPosRankSum=-0.211;VQSLOD=2.7423;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,113:207:99:2840,0,2496 11 57982584 57982584 T C exonic OR1S1 nonsynonymous SNV OR1S1:NM_001004458:exon1:c.T368C:p.I123T 0.52 0.28 0.54 0.8 0.42 0.65 0.4877 0.3000 0.6194 0.8046 0.4734 0.4240 0.5 0.6102 0.38 0.3 0.42 0.59 0.37 rs1966835 . . . . . . . . . . . . . 0.122 0.276 T 0.0 0.026 B 0.002 0.063 B 0.227 0.160 N 1 0.090 P -1.35 0.007 N 4.69 0.017 T -2.4 0.527 N 0.027 0.009 -1.040 0.172 T 0.000 0.000 T . . . -1.165 0.026 0.008 0.547 0.051 0.008 0.032 N c -1.576 -1.564 0.000 0.012 0.487 0.133 0 -2.56 0.059 -0.644 0.055 -1.825 0.006 0.000 0.063 0.618 0.292 1.423 0.022 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4982 0.3007 0.6049 0.4110 0.8145 0.4709 0.4286 0.4838 0.6057 0.4200 0.2989 0.5907 0.3967 0.8145 0.4682 0.4254 0.4549 het 2735.98 213 11 57982584 . T C 2735.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.668;DP=213;Dels=0.00;FS=4.858;HRun=0;HaplotypeScore=0.0000;MQ=56.97;MQ0=5;MQRankSum=-2.052;QD=12.84;ReadPosRankSum=0.245;VQSLOD=2.4249;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:100,113:213:99:2766,0,2885 11 57995777 57995777 G A exonic OR10Q1 nonsynonymous SNV OR10Q1:NM_001004471:exon1:c.C571T:p.R191C 0.15 0.15 0.19 0.12 0.16 0.16 0.1519 0.1416 0.1713 0.1424 0.1748 0.1442 0.1548 0.1717 0.14 0.14 0.14 0.15 0.16 rs11229301 . . . . . . . . . . . . . 0.047 0.403 D 0.241 0.292 B 0.094 0.286 B 0.001 0.409 D 1 0.090 P 2.595 0.761 M 8.65 0.002 T -5.92 0.889 D 0.269 0.327 -0.975 0.361 T 0.000 0.000 T . . . 2.851 0.403 21.6 0.990 0.504 0.143 0.181 N c -0.498 -0.569 0.000 0.012 0.487 0.133 0 1.43 0.215 -0.390 0.073 0.026 0.148 0.000 0.063 0.019 0.132 6.748 0.225 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000254926.1|ENSG00000197254.3 Nerve_Tibial|Nerve_Tibial 0.1532 0.1394 0.1738 0.1212 0.1447 0.1802 0.1431 0.1527 0.1699 0.1520 0.1413 0.1754 0.1523 0.1413 0.1836 0.1513 0.1431 hom 2697.55 84 11 57995777 . G A 2697.55 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7490;MQ=59.28;MQ0=0;QD=32.11;VQSLOD=8.9306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2731,232,0 11 57996312 57996312 C G exonic OR10Q1 nonsynonymous SNV OR10Q1:NM_001004471:exon1:c.G36C:p.E12D 0.94 0.84 0.98 0.96 0.99 0.99 0.9719 0.8473 0.9901 0.9504 0.9806 0.9837 0.9812 0.9927 0.94 0.86 0.98 0.92 0.95 rs4245219 . . . . . . . . . . . . . 0.281 0.154 T 0.0 0.026 B 0.0 0.013 B 0.067 0.217 N 1 0.090 P 0.43 0.127 N 8.11 0.003 T -0.33 0.125 N 0.017 0.003 -0.896 0.484 T 0.000 0.000 T . . . -1.404 0.019 0.003 0.302 0.016 0.003 0.016 N c -1.287 -1.283 0.000 0.012 0.487 0.133 0 0.647 0.169 -0.869 0.043 -0.416 0.060 0.000 0.063 0.178 0.212 4.528 0.113 . . . 0.9737 0.8436 0.9874 0.9716 0.9492 0.9791 0.9851 0.9785 0.9917 0.9414 0.8440 0.9737 0.9470 0.9574 0.9823 0.9822 0.9816 hom 8041.28 249 11 57996312 . C G 8041.28 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.9889;MQ=58.80;MQ0=0;QD=32.29;VQSLOD=7.8745;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8040,626,0 11 58125620 58125620 T C exonic OR5B17 nonsynonymous SNV OR5B17:NM_001005489:exon1:c.A923G:p.Y308C 0.73 0.73 0.73 0.86 0.63 0.7 0.6870 0.7467 0.7880 0.8610 0.6687 0.6300 0.6693 0.7268 0.67 0.74 0.63 0.83 0.67 rs4127353 COSM1179749 1(prostate) . . . . . . . . . . . 0.197 0.206 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -0.55 0.024 N 7.83 0.004 T -0.18 0.098 N 0.032 0.012 -0.975 0.362 T 0.000 0.000 T . . . -0.639 0.048 0.100 0.730 0.099 0.007 0.030 N c -1.814 -1.902 0.001 0.086 0.487 0.133 0 -5.15 0.026 -3.520 0.005 -1.841 0.006 0.000 0.063 0.015 0.124 0.252 0.002 . . . 0.6897 0.7463 0.7780 0.6645 0.8676 0.6598 0.6286 0.6899 0.7141 0.6899 0.7480 0.7632 0.6391 0.8683 0.6518 0.6454 0.6487 hom 5225.45 166 11 58125620 . T C 5225.45 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=31.48;VQSLOD=9.0588;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5225,400,0 11 58126305 58126305 A T exonic OR5B17 nonsynonymous SNV OR5B17:NM_001005489:exon1:c.T238A:p.L80I 0.72 0.68 0.73 0.86 0.63 0.7 0.6794 0.7033 0.7859 0.8564 0.6688 0.6278 0.6626 0.7113 0.66 0.7 0.63 0.79 0.67 rs4939208 . . . . . . . . . . . . . 0.186 0.214 T 0.004 0.112 B 0.008 0.127 B 0.968 0.082 N 1 0.090 P 2.38 0.688 M 7.81 0.004 T -0.5 0.158 N 0.057 0.045 -0.990 0.327 T 0.000 0.000 T . . . -1.691 0.013 0.002 0.649 0.074 0.007 0.029 N c -1.603 -1.784 0.001 0.072 0.487 0.133 0 -7.19 0.013 -5.131 0.002 -0.614 0.043 0.000 0.063 0.000 0.016 2.707 0.048 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6850 0.7027 0.7757 0.6633 0.8621 0.6597 0.6277 0.6836 0.7106 0.6786 0.7083 0.7613 0.6391 0.8630 0.6518 0.6460 0.6455 hom 2372.88 76 11 58126305 . A T 2372.88 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3581;MQ=58.08;MQ0=0;QD=31.22;VQSLOD=7.6680;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:76:99:2406,199,0 11 58190136 58190136 A G exonic OR5B2 nonsynonymous SNV OR5B2:NM_001005566:exon1:c.T599C:p.M200T 0.49 0.74 0.45 0.27 0.44 0.46 0.4458 0.6640 0.3700 0.3032 0.5097 0.4323 0.4591 0.4632 0.5 0.66 0.42 0.45 0.51 rs4298923 COSM3752519 1(large_intestine) . . . . . . . . . . . 0.022 0.486 D 0.001 0.067 B 0.001 0.040 B 0.961 0.077 U 1 0.090 P -0.065 0.048 N 8.78 0.001 T -1.67 0.399 N 0.143 0.168 -0.930 0.442 T 0.000 0.000 T . . . -0.174 0.078 1.243 0.658 0.076 0.153 0.187 N c -0.921 -0.884 0.337 0.195 0.554 0.246 0 3.73 0.418 1.071 0.301 0.928 0.438 0.000 0.063 0.260 0.230 11.648 0.503 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000254926.1|ENSG00000197254.3 Nerve_Tibial|Nerve_Tibial 0.4364 0.6678 0.3789 0.4055 0.2993 0.5125 0.4234 0.4355 0.4623 0.5026 0.6652 0.4270 0.4570 0.2955 0.5201 0.4342 0.4532 hom 1637.48 52 11 58190136 . A G 1637.48 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=58.66;MQ0=0;QD=31.49;VQSLOD=9.6846;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1670,147,0 11 58206714 58206714 C T exonic OR5B12 nonsynonymous SNV OR5B12:NM_001004733:exon1:c.G911A:p.G304E 0.0064 0.0008 0.0086 . 0.022 0.0031 0.0154 0.0035 0.0070 0 0.0340 0.0211 0.0156 0.0062 0.015 0.0041 0.021 . 0.016 rs117028468 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.686 0.102 N 1 0.090 N 0.295 0.102 N 1.13 0.386 T 0.92 0.016 N 0.026 0.008 -1.001 0.296 T 0.017 0.070 T . . . -1.815 0.011 0.002 0.219 0.009 0.009 0.036 N c -1.717 -1.768 0.007 0.113 0.487 0.133 0 -6.88 0.015 -2.158 0.014 -1.307 0.013 0.000 0.063 0.010 0.111 3.213 0.062 . . . 0.0147 0.0035 0.0054 0.0056 5.821e-05 0.0344 0.0205 0.0155 0.0061 0.0173 0.0031 0.0084 0.0033 0 0.0367 0.0229 0.0286 het 537.87 61 11 58206714 . C T 537.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.547;DP=61;Dels=0.00;FS=1.006;HRun=0;HaplotypeScore=2.6639;MQ=58.38;MQ0=0;MQRankSum=0.158;QD=8.82;ReadPosRankSum=-0.943;VQSLOD=5.3545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,24:61:99:568,0,935 11 58207204 58207204 A G exonic OR5B12 nonsynonymous SNV OR5B12:NM_001004733:exon1:c.T421C:p.C141R 1. 1. 1. 1. 1. 1. 1.0000 1 1 0.9999 1 1 1 0.9998 . . . 0.85 1. rs4938895 COSM4591829 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.395 0.106 T 0.0 0.026 B 0.002 0.063 B 0.513 0.118 N 1.000 0.090 P -0.88 0.014 N 8.79 0.001 T -0.55 0.168 N 0.063 0.048 -0.903 0.477 T 0.000 0.000 T . . . -2.243 0.005 0.001 0.272 0.013 0.003 0.014 N c -2.225 -2.290 0.284 0.190 0.554 0.246 0 -8.89 0.007 -3.294 0.006 -0.540 0.048 0.000 0.063 0.282 0.234 8.170 0.302 GPCR\x2c rhodopsin-like\x2c 7TM . . 1.0000 1 1 1 0.9999 1 1.0000 1 0.9998 1 1 1 1 1 1 1 1 hom 4279.24 148 11 58207204 . A G 4279.24 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.638;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9806;MQ=59.44;MQ0=0;MQRankSum=1.615;QD=28.91;ReadPosRankSum=1.264;VQSLOD=7.6646;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,147:148:99:4254,325,0 11 58478084 58478084 T C exonic GLYAT nonsynonymous SNV GLYAT:NM_005838:exon5:c.A467G:p.N156S,GLYAT:NM_201648:exon5:c.A467G:p.N156S 0.93 1. 0.96 0.8 0.98 0.88 0.9505 0.9946 0.9367 0.7757 0.9796 0.9795 0.9670 0.8943 0.99 0.99 0.98 0.97 1. rs675815 . . . . . . . . . . . . . 0.827 0.029 T 0.0 0.026 B 0.0 0.040 B 0.201 0.033 N 1 0.090 P -0.585 0.023 N 2.34 0.164 T -0.16 0.095 N 0.005 0.001 -0.991 0.323 T 0.000 0.000 T . . . -3.037 0.001 0.001 0.198 0.007 0.002 0.014 N c -2.170 -2.203 0.292 0.191 0.487 0.133 0 -8.33 0.009 -3.628 0.005 -1.134 0.018 0.000 0.063 0.000 0.016 4.582 0.116 Acyl-CoA N-acyltransferase|Glycine N-acyltransferase\x2c N-terminal . . 0.9490 0.9961 0.9366 0.9756 0.7725 0.9772 0.9796 0.9646 0.8958 0.9722 0.9961 0.9523 0.9834 0.7693 0.9740 0.9806 0.9695 het 2663.19 217 11 58478084 . T C 2663.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.425;DP=217;Dels=0.00;FS=2.322;HRun=0;HaplotypeScore=2.8466;MQ=58.65;MQ0=0;MQRankSum=0.311;QD=12.27;ReadPosRankSum=-1.892;VQSLOD=5.6302;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:117,100:217:99:2693,0,3063 11 58491921 58491921 A T exonic GLYAT nonsynonymous SNV GLYAT:NM_005838:exon2:c.T49A:p.S17T,GLYAT:NM_201648:exon2:c.T49A:p.S17T 0.22 0.2 0.27 0.26 0.16 0.22 0.1935 0.1942 0.3180 0.2690 0.2968 0.1503 0.1784 0.2010 0.16 0.19 0.15 0.22 0.2 rs10896818 COSM4415305 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.201 0.203 T 0.077 0.290 B 0.063 0.333 B 0.293 0.147 N 1.000 0.090 P 3.38 0.916 M 2.25 0.178 T -1.8 0.424 N 0.025 0.034 -1.005 0.284 T 0.000 0.000 T . . . 0.530 0.145 7.658 0.794 0.123 0.040 0.093 N c -1.023 -1.161 0.000 0.012 0.487 0.133 0 -2.71 0.056 -0.254 0.087 0.155 0.242 0.016 0.191 0.830 0.347 14.403 0.665 Glycine N-acyltransferase\x2c N-terminal . . 0.1976 0.1935 0.3013 0.0742 0.2677 0.2858 0.1491 0.1780 0.2023 0.1913 0.2006 0.2733 0.0993 0.2624 0.2846 0.1528 0.2076 het 1683.78 131 11 58491921 . A T 1683.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.228;DP=131;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.9646;MQ=58.21;MQ0=0;MQRankSum=0.168;QD=12.85;ReadPosRankSum=-0.306;VQSLOD=5.4449;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,66:131:99:1714,0,1504 11 58602309 58602309 C T exonic GLYATL2 nonsynonymous SNV GLYATL2:NM_145016:exon6:c.G478A:p.E160K 0.33 0.29 0.32 0.48 0.2 0.39 0.2825 0.2867 0.3957 0.5273 0.3260 0.2032 0.2458 0.3867 0.21 0.26 0.19 0.29 0.22 rs11229651 COSM147251 1(stomach);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.532 0.053 N 0.000 0.588 P -0.63 0.021 N 2.54 0.139 T 0.6 0.025 N 0.02 0.004 -0.930 0.442 T 0.000 0.000 T . . . -0.756 0.042 0.054 0.132 0.003 0.000 0.002 N c -1.607 -1.597 0.000 0.029 0.554 0.246 0 -1.35 0.086 0.002 0.129 -0.284 0.084 0.001 0.137 0.008 0.104 5.654 0.168 Acyl-CoA N-acyltransferase|Glycine N-acyltransferase\x2c N-terminal ENSG00000156689.2|ENSG00000156689.2|ENSG00000156689.2|ENSG00000156689.2 Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.2804 0.2788 0.3818 0.1447 0.5262 0.3240 0.2001 0.2473 0.3612 0.2558 0.2748 0.3329 0.1533 0.5292 0.3210 0.1974 0.2643 hom 841.89 31 11 58602309 . C T 841.89 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=27.16;VQSLOD=7.4625;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:69.21:875,69,0 11 58919813 58919813 A G exonic FAM111A synonymous SNV FAM111A:NM_001312911:exon4:c.A672G:p.A224A,FAM111A:NM_022074:exon4:c.A672G:p.A224A,FAM111A:NM_198847:exon4:c.A672G:p.A224A,FAM111A:NM_001142519:exon5:c.A672G:p.A224A,FAM111A:NM_001142520:exon5:c.A672G:p.A224A,FAM111A:NM_001142521:exon5:c.A672G:p.A224A,FAM111A:NM_001312910:exon5:c.A672G:p.A224A,FAM111A:NM_001312909:exon6:c.A672G:p.A224A 0.28 0.4 0.25 0.29 0.2 0.22 0.2299 0.3436 0.2410 0.2994 0.2002 0.2032 0.2115 0.2353 0.25 0.34 0.21 0.29 0.22 rs10896928 COSM4414990 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2274 0.3403 0.2367 0.1735 0.3007 0.1994 0.2060 0.2034 0.2398 0.2437 0.3291 0.2333 0.1656 0.3032 0.1998 0.2031 0.1963 het 1770.48 139 11 58919813 . A G 1770.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.282;DP=139;Dels=0.00;FS=2.172;HRun=0;HaplotypeScore=7.1953;MQ=59.25;MQ0=0;MQRankSum=-0.011;QD=12.74;ReadPosRankSum=-0.812;VQSLOD=4.5104;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,70:139:99:1800,0,1707 11 58940278 58940278 G T exonic DTX4 synonymous SNV DTX4:NM_015177:exon1:c.G210T:p.T70T 0.25 0.15 0.36 0.27 0.21 0.33 0.2766 0.1942 0.4195 0.2874 0.2646 0.2378 0.24 0.3749 0.2 0.16 0.22 0.17 . rs12796683 COSM4145928 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2663 0.1748 0.4055 0.2200 0.2758 0.2227 0.2242 0.2405 0.3392 0.2087 0.1690 0.3539 0.2215 0.2600 0.2217 0.2142 0.2195 het 232.86 13 11 58940278 . G T 232.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.835;DP=13;Dels=0.00;FS=2.632;HRun=0;HaplotypeScore=0.0000;MQ=57.84;MQ0=0;MQRankSum=0.289;QD=17.91;ReadPosRankSum=-0.825;VQSLOD=3.2587;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,8:13:91.54:263,0,92 11 58978940 58978940 C T exonic MPEG1 nonsynonymous SNV MPEG1:NM_001039396:exon1:c.G1399A:p.A467T 0.27 0.12 0.4 0.29 0.29 0.33 0.2924 0.1394 0.4397 0.3398 0.2883 0.2768 0.2778 0.3207 0.24 0.14 0.29 0.21 0.24 rs544864 COSM4415370 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.107 0.295 T 0.256 0.296 B 0.055 0.246 B 0.001 0.407 N 0.999 0.216 P 2.555 0.748 M 0.87 0.464 T -2.67 0.571 D 0.11 0.118 -0.985 0.339 T 0.000 0.000 T . . . 0.617 0.153 8.274 0.996 0.710 0.535 0.291 D c -0.425 -0.439 1.000 0.747 0.628 0.401 0 4.8 0.610 1.239 0.321 0.932 0.445 0.630 0.278 0.342 0.244 12.838 0.570 . . . 0.2993 0.1352 0.4363 0.2194 0.3365 0.2816 0.2807 0.2985 0.3163 0.2400 0.1364 0.3986 0.2152 0.3375 0.2826 0.2704 0.2551 hom 4811.77 165 11 58978940 . C T 4811.77 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5157;MQ=59.37;MQ0=0;QD=29.16;VQSLOD=7.5920;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:4811,394,0 11 59189912 59189912 G A exonic OR5A2 nonsynonymous SNV OR5A2:NM_001001954:exon1:c.C515T:p.P172L 0.13 0.024 0.13 0.11 0.25 0.15 0.2090 0.0499 0.0947 0.1189 0.2886 0.2724 0.2346 0.1472 0.19 0.058 0.26 0.15 0.23 rs1453547 COSM4145929 1(thyroid) . . . . . . . . . . . 0.016 0.518 D 0.997 0.689 D 0.993 0.797 D 0.004 0.348 U 0.259 0.338 P 2.19 0.618 M 8.76 0.001 T -7.59 0.953 D 0.201 0.246 -0.551 0.668 T 0.000 0.000 T . . . 5.347 0.724 25.9 0.998 0.894 0.745 0.362 D c 0.355 0.219 0.004 0.104 0.487 0.133 0 4.55 0.553 7.688 0.833 0.998 0.613 1.000 0.715 0.976 0.476 13.889 0.631 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2076 0.0474 0.1076 0.2455 0.1134 0.2857 0.2720 0.2181 0.1456 0.1973 0.0532 0.1277 0.2185 0.1211 0.2942 0.2671 0.2439 het 1384.56 111 11 59189912 . G A 1384.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.932;DP=111;Dels=0.00;FS=0.732;HRun=0;HaplotypeScore=1.7853;MQ=59.38;MQ0=0;MQRankSum=1.313;QD=12.47;ReadPosRankSum=0.180;VQSLOD=6.7208;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,54:111:99:1415,0,1580 11 59190120 59190120 A G exonic OR5A2 nonsynonymous SNV OR5A2:NM_001001954:exon1:c.T307C:p.F103L 0.045 0.0023 0.095 0.061 0.026 0.07 0.0447 0.0074 0.1272 0.0658 0.0328 0.0302 0.0430 0.0629 0.024 0.0075 0.032 0.022 0.033 rs17153691 . . . . . . . . . . . . . 0.057 0.379 T 0.999 0.764 D 0.997 0.850 D 0.003 0.360 U 1 0.090 P 2.47 0.719 M 7.57 0.004 T -4.62 0.791 D 0.143 0.168 -0.368 0.730 T 0.000 0.000 T . . . 2.420 0.352 18.95 0.988 0.467 0.579 0.302 D c 0.358 0.236 0.113 0.167 0.666 0.498 0 5.47 0.803 5.824 0.688 1.140 0.893 0.644 0.279 1.000 0.888 13.787 0.624 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0486 0.0064 0.1218 0.0143 0.0654 0.0314 0.0315 0.0464 0.0662 0.0300 0.0056 0.1089 0.02 0.0632 0.0338 0.0349 0.0418 het 1209.01 83 11 59190120 . A G 1209.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.310;DP=83;Dels=0.00;FS=7.279;HRun=1;HaplotypeScore=1.6988;MQ=58.71;MQ0=0;MQRankSum=0.451;QD=14.57;ReadPosRankSum=-0.169;VQSLOD=5.1051;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:1239,0,1186 11 59210761 59210761 C G exonic OR5A1 synonymous SNV OR5A1:NM_001004728:exon1:c.C120G:p.T40T 0.13 0.033 0.13 0.11 0.25 0.14 0.2101 0.0594 0.0949 0.1201 0.2887 0.2728 0.2357 0.1466 0.2 0.065 0.26 0.16 0.24 rs11605572 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2085 0.0570 0.1080 0.2450 0.1143 0.2859 0.2725 0.2181 0.1453 0.1998 0.0621 0.1289 0.2167 0.1228 0.2943 0.2672 0.2423 het 2533.39 173 11 59210761 . C G 2533.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.113;DP=173;Dels=0.00;FS=1.229;HRun=0;HaplotypeScore=7.1781;MQ=59.06;MQ0=0;MQRankSum=0.063;QD=14.64;ReadPosRankSum=0.121;VQSLOD=4.5765;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,98:173:99:2563,0,2033 11 59211421 59211421 C T exonic OR5A1 synonymous SNV OR5A1:NM_001004728:exon1:c.C780T:p.F260F 0.13 0.024 0.13 0.11 0.25 0.14 0.2093 0.0501 0.0948 0.1201 0.2885 0.2729 0.2357 0.1466 0.19 0.057 0.26 0.13 0.24 rs17591107 COSM1178423 1(breast);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2079 0.0479 0.1076 0.2452 0.1143 0.2855 0.2725 0.2178 0.1453 0.1975 0.0540 0.1277 0.2185 0.1233 0.2941 0.2672 0.2424 het 4450.33 250 11 59211421 . C T 4450.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.870;DP=250;DS;Dels=0.00;FS=7.994;HRun=4;HaplotypeScore=9.7972;MQ=58.94;MQ0=0;MQRankSum=1.247;QD=17.80;ReadPosRankSum=2.030;VQSLOD=2.6876;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,132:250:99:3772,0,3115 11 59224608 59224608 A G exonic OR4D6 nonsynonymous SNV OR4D6:NM_001004708:exon1:c.A175G:p.M59V 0.13 0.02 0.13 0.11 0.25 0.14 0.2092 0.0477 0.0947 0.1206 0.2889 0.2730 0.2346 0.1465 0.19 0.055 0.26 0.13 0.24 rs1453544 COSM1178424 1(pancreas);1(prostate) . . . . . . . . . . . 0.007 0.599 D 0.939 0.507 P 0.76 0.546 P 0.000 0.629 D 0.403 0.325 P 3.055 0.871 M 2.99 0.093 T -3.7 0.705 D 0.224 0.296 -1.061 0.116 T 0.000 0.000 T . . . 3.510 0.480 23.1 0.987 0.440 0.991 0.915 D c 0.633 0.559 0.343 0.196 0.487 0.133 0 4.88 0.630 7.502 0.803 1.199 0.960 1.000 0.715 0.694 0.308 11.149 0.475 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2078 0.0454 0.1075 0.2451 0.1148 0.2855 0.2726 0.2178 0.1453 0.1974 0.0520 0.1268 0.2185 0.1245 0.2945 0.2681 0.2418 het 1085.31 93 11 59224608 . A G 1085.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.211;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9947;MQ=58.44;MQ0=0;MQRankSum=1.235;QD=11.67;ReadPosRankSum=-1.678;VQSLOD=5.5727;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,38:93:99:1115,0,1529 11 59224720 59224720 A G exonic OR4D6 nonsynonymous SNV OR4D6:NM_001004708:exon1:c.A287G:p.D96G 0.9 0.75 0.85 0.94 0.99 0.98 0.9488 0.7910 0.8042 0.9418 0.9926 0.9879 0.9593 0.9774 0.92 0.79 0.99 0.85 0.98 rs1453543 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 1 0.090 P -2.415 0.001 N 5.23 0.012 T 5.78 0.000 N 0.057 0.047 -0.968 0.376 T 0.000 0.000 T . . . 0.707 0.161 8.876 0.281 0.014 0.020 0.060 N c -0.988 -0.681 0.000 0.061 0.487 0.133 0 6.0 0.974 1.016 0.294 0.138 0.222 0.026 0.200 0.706 0.311 14.306 0.658 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9456 0.7847 0.8054 0.9844 0.9441 0.9910 0.9886 0.9574 0.9757 0.9258 0.7855 0.8222 0.9768 0.9525 0.9920 0.9905 0.9745 hom 6848.50 218 11 59224720 . A G 6848.50 Mask AC=2;AF=1.00;AN=2;DP=218;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6031;MQ=58.83;MQ0=0;QD=31.42;VQSLOD=8.3872;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:6848,521,0 11 59224885 59224885 G C exonic OR4D6 nonsynonymous SNV OR4D6:NM_001004708:exon1:c.G452C:p.S151T 0.18 0.048 0.23 0.17 0.28 0.21 0.2554 0.0696 0.2245 0.1863 0.3212 0.3032 0.2797 0.2096 0.22 0.075 0.3 0.18 0.27 rs1453542 COSM5505314 1(biliary_tract) . . . . . . . . . . . 0.004 0.654 D 0.022 0.174 B 0.088 0.282 B 0.055 0.227 N 1 0.090 P 0.845 0.213 L 1.24 0.367 T -1.56 0.377 N 0.054 0.037 -1.008 0.277 T 0.000 0.000 T . . . 2.496 0.361 19.44 0.978 0.358 0.120 0.168 N c -0.277 -0.120 0.000 0.041 0.516 0.203 0 5.04 0.672 0.958 0.286 1.048 0.713 0.001 0.137 1.000 0.888 15.506 0.754 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2575 0.0674 0.2302 0.2603 0.1798 0.3168 0.3041 0.2653 0.2113 0.2317 0.0730 0.2380 0.2333 0.1865 0.3280 0.3027 0.2867 hom 5664.16 167 11 59224885 . G C 5664.16 Mask AC=2;AF=1.00;AN=2;DP=167;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1950;MQ=59.11;MQ0=0;QD=33.92;VQSLOD=7.8228;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5664,448,0 11 59225221 59225221 T C exonic OR4D6 nonsynonymous SNV OR4D6:NM_001004708:exon1:c.T788C:p.M263T 0.27 0.32 0.27 0.18 0.3 0.23 0.2912 0.3342 0.2437 0.2013 0.3271 0.3166 0.3062 0.2267 0.32 0.33 0.32 0.26 0.29 rs1453541 COSM4999171 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.608 0.109 N 1 0.090 P -1.895 0.002 N 8.8 0.001 T 3.49 0.001 N 0.007 0.000 -0.972 0.368 T 0.000 0.000 T . . . -3.949 0.000 0.001 0.125 0.002 0.005 0.023 N c -2.103 -1.964 0.000 0.035 0.487 0.133 0 -2.74 0.056 -1.945 0.016 -2.668 0.002 0.000 0.063 0.002 0.062 4.660 0.119 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2886 0.3362 0.2520 0.2749 0.1923 0.3234 0.3184 0.2918 0.2292 0.3175 0.3427 0.2685 0.2517 0.1953 0.3354 0.3165 0.3108 hom 4932.05 160 11 59225221 . T C 4932.05 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8097;MQ=59.73;MQ0=0;QD=30.83;VQSLOD=8.0779;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4931,394,0 11 59271637 59271637 T C exonic OR4D11 nonsynonymous SNV OR4D11:NM_001004706:exon1:c.T589C:p.F197L 0.3 0.29 0.22 0.28 0.31 0.4 0.2966 0.2858 0.1641 0.2755 0.2530 0.2963 0.3238 0.4245 0.29 0.28 0.3 0.37 0.27 rs7120079 COSM147254 1(stomach);3(haematopoietic_and_lymphoid_tissue);2(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.052 0.230 N 1 0.090 P -1.71 0.003 N 8.93 0.000 T 2.04 0.004 N 0.039 0.019 -0.988 0.332 T 0.000 0.000 T . . . -1.555 0.016 0.002 0.251 0.011 0.010 0.037 N c -1.487 -1.321 0.217 0.183 0.570 0.322 0 1.12 0.196 -1.660 0.021 0.025 0.148 0.000 0.063 0.666 0.302 5.447 0.157 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2888 0.2807 0.1710 0.3294 0.2701 0.2477 0.2950 0.2837 0.4267 0.2753 0.2828 0.1826 0.3233 0.2748 0.2520 0.2812 0.2668 het 3873.87 222 11 59271637 . T C 3873.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.251;DP=222;DS;Dels=0.00;FS=0.499;HRun=0;HaplotypeScore=8.3068;MQ=59.79;MQ0=0;MQRankSum=2.054;QD=17.45;ReadPosRankSum=0.249;VQSLOD=3.3122;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,115:222:99:3292,0,2778 11 59480951 59480951 T C exonic OR10V1 nonsynonymous SNV OR10V1:NM_001005324:exon1:c.A368G:p.Q123R 0.97 1. 0.96 1. 0.92 0.98 0.9376 0.9855 0.9655 1 0.9229 0.9081 0.93 0.9809 0.94 0.98 0.91 0.94 0.89 rs499033 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.327 N 0.000 0.810 P -3.06 0.000 N 3.52 0.049 T 3.75 0.001 N 0.055 0.037 -1.012 0.262 T 0.000 0.000 T . . . -0.519 0.054 0.197 0.883 0.173 0.025 0.069 N c -1.098 -0.782 0.003 0.096 0.497 0.185 0 3.43 0.382 2.668 0.462 -2.803 0.002 0.978 0.348 0.005 0.090 7.354 0.257 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9366 0.9867 0.9608 0.8602 1 0.9215 0.9105 0.9238 0.9814 0.9376 0.9848 0.9606 0.8742 1 0.9295 0.9067 0.9158 hom 1765.60 55 11 59480951 . T C 1765.60 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4809;MQ=58.65;MQ0=0;QD=32.10;VQSLOD=9.4027;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1799,153,0 11 59480969 59480969 A G exonic OR10V1 nonsynonymous SNV OR10V1:NM_001005324:exon1:c.T350C:p.V117A 0.19 0.48 0.18 0.069 0.064 0.046 0.1045 0.4156 0.2042 0.0677 0.1027 0.0583 0.0909 0.0476 0.18 0.4 0.062 0.26 0.074 rs472177 COSM4417835 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 0.038 0.382 P -1.715 0.003 N 5.04 0.013 T 2.84 0.002 N 0.044 0.024 -0.997 0.309 T 0.000 0.000 T . . . -0.027 0.091 2.334 0.848 0.150 0.006 0.026 N c -1.094 -0.860 0.000 0.052 0.497 0.185 0 4.36 0.515 2.571 0.454 -0.296 0.082 0.220 0.243 0.002 0.062 10.761 0.453 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000166900.10|ENSG00000166900.10 Artery_Tibial|Nerve_Tibial 0.1049 0.4243 0.2080 0.0331 0.0663 0.1069 0.0592 0.0828 0.0474 0.1701 0.4185 0.1950 0.0464 0.0569 0.1070 0.0594 0.0859 het 853.02 59 11 59480969 . A G 853.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.859;DP=59;Dels=0.00;FS=0.997;HRun=0;HaplotypeScore=0.9332;MQ=58.82;MQ0=0;MQRankSum=-0.280;QD=14.46;ReadPosRankSum=-1.099;VQSLOD=6.1216;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,29:59:99:883,0,791 11 59481119 59481119 G T exonic OR10V1 nonsynonymous SNV OR10V1:NM_001005324:exon1:c.C200A:p.A67E 0.029 0.029 0.014 0.032 0.046 0.017 0.0356 0.0260 0.0106 0.0156 0.0917 0.0425 0.0431 0.0185 0.037 0.026 0.043 0.065 0.041 rs74398490 . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.999 0.916 D 0.000 0.523 D 1 0.810 D 3.18 0.890 M 4.03 0.032 T -1.97 0.456 N 0.316 0.377 -1.183 0.003 T 0.010 0.039 T . . . 4.665 0.625 24.5 0.991 0.524 0.945 0.610 D c 0.699 0.584 0.001 0.079 0.487 0.133 0 4.36 0.515 4.418 0.593 0.126 0.213 0.958 0.332 0.047 0.162 14.970 0.708 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000166900.10|ENSG00000255139.1|ENSG00000166900.10 Adipose_Subcutaneous|Muscle_Skeletal|Nerve_Tibial 0.0362 0.0265 0.0110 0.0094 0.0181 0.0940 0.0438 0.0333 0.0179 0.0431 0.0258 0.0155 0.0166 0.0204 0.0947 0.0454 0.0490 het 782.74 55 11 59481119 . G T 782.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.416;DP=55;Dels=0.00;FS=9.749;HRun=1;HaplotypeScore=0.7340;MQ=58.81;MQ0=0;MQRankSum=-0.480;QD=14.23;ReadPosRankSum=0.766;VQSLOD=3.9492;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,28:55:99:813,0,799 11 59612859 59612859 T C exonic GIF nonsynonymous SNV GIF:NM_005142:exon1:c.A68G:p.Q23R 0.1 0.27 0.033 0.042 0.057 0.034 0.0607 0.2104 0.0236 0.0362 0.1046 0.0483 0.0606 0.0379 0.098 0.2 0.048 0.12 0.049 rs35211634 COSM4419932 1(haematopoietic_and_lymphoid_tissue);1(soft_tissue) other|Benign Intrinsic_factor_deficiency\x2c_congenital\x2c_susceptibility_to|Intrinsic_factor_deficiency RCV000001812.2|RCV000346011.1 MedGen:OMIM C1394891:261000 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.841 0.090 N 1 0.090 P -1.055 0.011 N 1.35 0.346 T -0.37 0.132 N 0.083 0.077 -0.932 0.438 T 0.000 0.000 T . . . -1.904 0.009 0.002 0.205 0.007 0.002 0.012 N c -1.695 -1.684 0.316 0.193 0.487 0.133 0 -4.43 0.033 -2.887 0.008 -2.253 0.004 0.000 0.063 0.002 0.062 14.560 0.676 . ENSG00000166900.10|ENSG00000166900.10 Adipose_Subcutaneous|Nerve_Tibial 0.0587 0.2145 0.0262 0.0163 0.0388 0.1090 0.0503 0.0471 0.0371 0.0998 0.2051 0.0382 0.0265 0.0396 0.1064 0.0507 0.0662 het 2139.24 153 11 59612859 . T C 2139.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.023;DP=153;Dels=0.00;FS=6.290;HRun=1;HaplotypeScore=2.3984;MQ=58.63;MQ0=0;MQRankSum=0.569;QD=13.98;ReadPosRankSum=1.073;VQSLOD=5.1117;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,87:153:99:2169,0,1676 11 59623433 59623433 G A exonic TCN1 synonymous SNV TCN1:NM_001062:exon6:c.C846T:p.S282S 0.3 0.55 0.16 0.16 0.23 0.27 0.2419 0.4719 0.1050 0.1834 0.2700 0.2213 0.2489 0.2954 0.3 0.46 0.22 0.33 0.25 rs1042613 COSM147255 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2327 0.4740 0.1070 0.1690 0.1805 0.2703 0.2257 0.2186 0.3002 0.2981 0.4807 0.1253 0.2067 0.1646 0.2612 0.2307 0.2382 hom 2293.86 77 11 59623433 . G A 2293.86 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6498;MQ=58.58;MQ0=0;QD=29.79;VQSLOD=8.5002;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2327,187,0 11 59837097 59837097 C T exonic MS4A3 synonymous SNV MS4A3:NM_001031666:exon4:c.C195T:p.T65T,MS4A3:NM_001031809:exon5:c.C426T:p.T142T,MS4A3:NM_006138:exon6:c.C564T:p.T188T 0.3 0.29 0.18 0.23 0.27 0.51 0.2888 0.2570 0.1578 0.2168 0.2077 0.2845 0.2896 0.4882 0.27 0.25 0.28 0.27 0.35 rs528823 COSM3998501 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2815 0.2617 0.1691 0.2681 0.2133 0.2115 0.2879 0.2738 0.4857 0.2607 0.2659 0.1974 0.2417 0.2237 0.2053 0.2769 0.2843 het 2722.89 246 11 59837097 . C T 2722.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.472;DP=246;DS;Dels=0.00;FS=2.151;HRun=0;HaplotypeScore=0.9997;MQ=59.57;MQ0=0;MQRankSum=1.406;QD=11.07;ReadPosRankSum=1.167;VQSLOD=6.4066;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:134,112:246:99:2753,0,3777 11 59940599 59940599 T A exonic MS4A6A nonsynonymous SNV MS4A6A:NM_001330275:exon6:c.A637T:p.T213S,MS4A6A:NM_022349:exon6:c.A553T:p.T185S,MS4A6A:NM_152851:exon6:c.A449T:p.N150I,MS4A6A:NM_001247999:exon7:c.A637T:p.T213S,MS4A6A:NM_152852:exon7:c.A553T:p.T185S 0.21 0.04 0.23 0.058 0.36 0.45 0.3131 0.0952 0.1584 0.0632 0.2860 0.3730 0.3480 0.4563 0.28 0.097 0.37 0.2 0.43 rs7232 . . . . . . . . . . . . . 0.289 0.167 T 0.626 0.440 P 0.419 0.432 B 0.212 0.034 N 1 0.090 P . . . 4.39 0.023 T -1.8 0.435 N 0.066 0.228 -0.979 0.352 T 0.000 0.000 T . . . 0.738 0.164 9.076 0.803 0.127 0.056 0.114 N c -0.972 -1.179 1.000 0.517 0.653 0.482 0 -5.11 0.027 -2.297 0.012 -0.277 0.085 0.000 0.063 0.323 0.241 2.293 0.039 . . . 0.3098 0.0883 0.1735 0.3789 0.0582 0.2865 0.3773 0.3330 0.4557 0.2572 0.0894 0.2093 0.3444 0.0654 0.2833 0.3641 0.3490 het 2173.20 183 11 59940599 . T A 2173.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.424;DP=183;DS;Dels=0.00;FS=7.219;HRun=0;HaplotypeScore=10.5304;MQ=58.35;MQ0=0;MQRankSum=2.042;QD=11.88;ReadPosRankSum=1.073;VQSLOD=3.0469;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,80:183:99:2203,0,2755 11 59945745 59945745 T C exonic MS4A6A synonymous SNV MS4A6A:NM_001330275:exon4:c.A411G:p.L137L,MS4A6A:NM_022349:exon4:c.A327G:p.L109L,MS4A6A:NM_152851:exon4:c.A327G:p.L109L,MS4A6A:NM_001247999:exon5:c.A411G:p.L137L,MS4A6A:NM_152852:exon5:c.A327G:p.L109L 0.31 0.16 0.27 0.23 0.4 0.52 0.3591 0.2041 0.2044 0.2127 0.2948 0.4005 0.3962 0.4984 0.33 0.2 0.4 0.33 0.5 rs12453 COSM147256;COSM4145935;COSM1162170 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3546 0.2003 0.2179 0.3979 0.2090 0.2966 0.4058 0.3775 0.5006 0.3094 0.2037 0.2584 0.3709 0.2160 0.2946 0.3817 0.3791 het 1782.88 122 11 59945745 . T C 1782.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.309;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.61;MQ0=0;MQRankSum=0.531;QD=14.61;ReadPosRankSum=2.006;VQSLOD=6.2183;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,70:122:99:1813,0,1203 11 60073597 60073597 C T exonic MS4A4A synonymous SNV MS4A4A:NM_001243266:exon5:c.C412T:p.L138L,MS4A4A:NM_148975:exon6:c.C571T:p.L191L,MS4A4A:NM_024021:exon7:c.C514T:p.L172L 0.93 0.89 0.99 0.84 1. 0.95 0.9713 0.8910 0.9912 0.8461 0.9992 0.9986 0.9890 0.9512 0.96 0.88 1. 0.86 1. rs4644658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9737 0.8869 0.9910 1 0.8419 0.9998 0.9986 0.9859 0.9521 0.9586 0.8872 0.9893 1 0.8354 1 0.9991 0.9898 hom 3683.83 119 11 60073597 . C T 3683.83 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4449;MQ=59.30;MQ0=0;QD=30.96;VQSLOD=8.0818;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3684,280,0 11 60102384 60102384 A G exonic MS4A6E nonsynonymous SNV MS4A6E:NM_139249:exon1:c.A16G:p.I6V 0.26 0.23 0.42 0.25 0.31 0.13 0.3185 0.2468 0.3872 0.2725 0.5558 0.3432 0.2907 0.1462 0.31 0.26 0.34 0.22 0.28 rs2304935 COSM3752528 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.261 0.037 N 1 0.090 P -0.69 0.019 N 3.15 0.078 T 0.23 0.046 N 0.007 0.000 -0.931 0.439 T 0.000 0.000 T . . . -3.185 0.001 0.001 0.184 0.006 0.001 0.008 N c -2.101 -2.109 0.558 0.214 0.526 0.212 0 -3.92 0.039 -0.775 0.047 -1.875 0.006 0.000 0.063 0.000 0.016 8.785 0.338 . . . 0.3253 0.2472 0.3872 0.2490 0.2708 0.5583 0.3364 0.3124 0.1444 0.3458 0.2540 0.3544 0.2848 0.2516 0.5521 0.3606 0.3650 het 2412.11 176 11 60102384 . A G 2412.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.644;DP=176;Dels=0.00;FS=10.332;HRun=0;HaplotypeScore=0.6651;MQ=58.82;MQ0=0;MQRankSum=-0.829;QD=13.71;ReadPosRankSum=-0.721;VQSLOD=4.5487;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,101:176:99:2442,0,1919 11 60102396 60102396 A G exonic MS4A6E nonsynonymous SNV MS4A6E:NM_139249:exon1:c.A28G:p.T10A 0.26 0.23 0.42 0.26 0.31 0.13 0.3184 0.2466 0.3870 0.2724 0.5558 0.3432 0.2907 0.1463 0.31 0.26 0.34 0.22 0.28 rs2304934 COSM3752529 6(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.086 0.326 T 0.106 0.245 B 0.009 0.133 B 0.808 0.093 N 1 0.090 P 1.61 0.413 L 2.86 0.105 T -2.5 0.543 D 0.018 0.003 -0.911 0.468 T 0.000 0.000 T . . . 0.330 0.126 5.978 0.962 0.284 0.004 0.022 N c -1.168 -1.328 0.146 0.174 0.526 0.212 0 -2.81 0.054 -0.111 0.107 0.926 0.436 0.000 0.063 0.087 0.184 2.238 0.037 . . . 0.3252 0.2471 0.3871 0.2489 0.2709 0.5582 0.3364 0.3125 0.1444 0.3457 0.2538 0.3553 0.2848 0.2494 0.5530 0.3606 0.3650 het 2215.52 181 11 60102396 . A G 2215.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.740;DP=181;Dels=0.00;FS=13.096;HRun=1;HaplotypeScore=3.4612;MQ=58.78;MQ0=0;MQRankSum=1.322;QD=12.24;ReadPosRankSum=0.291;VQSLOD=3.4276;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,95:181:99:2246,0,2202 11 60102507 60102507 G T exonic MS4A6E nonsynonymous SNV MS4A6E:NM_139249:exon1:c.G139T:p.V47F 0.26 0.23 0.42 0.26 0.31 0.13 0.3187 0.2455 0.3863 0.2714 0.5558 0.3438 0.2914 0.1468 0.31 0.26 0.34 0.22 0.28 rs2304933 COSM3752530 1(large_intestine) . . . . . . . . . . . 0.044 0.410 D 0.996 0.670 D 0.849 0.588 P 0.415 0.129 N 1.000 0.207 P 0.69 0.170 N 2.46 0.149 T -2.89 0.606 D 0.286 0.415 -0.920 0.456 T 0.000 0.000 T . . . 1.150 0.205 11.48 0.962 0.285 0.046 0.102 N c -0.255 -0.467 0.103 0.164 0.497 0.185 0 2.23 0.271 0.164 0.162 -0.020 0.129 0.007 0.175 0.300 0.237 7.860 0.285 . . . 0.3252 0.2459 0.3864 0.2494 0.2703 0.5586 0.3367 0.3119 0.1443 0.3456 0.2528 0.3537 0.2867 0.2503 0.5525 0.3611 0.3642 het 831.01 78 11 60102507 . G T 831.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.781;DP=78;Dels=0.00;FS=5.312;HRun=2;HaplotypeScore=5.3133;MQ=58.28;MQ0=0;MQRankSum=-0.246;QD=10.52;ReadPosRankSum=0.015;VQSLOD=4.7322;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,36:78:99:861,0,1242 11 60183132 60183132 G C exonic MS4A14 nonsynonymous SNV MS4A14:NM_001079692:exon4:c.G640C:p.D214H,MS4A14:NM_001261827:exon5:c.G739C:p.D247H,MS4A14:NM_032597:exon5:c.G691C:p.D231H,MS4A14:NM_001261828:exon6:c.G790C:p.D264H 0.0002 . 0.0014 . . . 4.961e-05 0 8.699e-05 0 0 7.519e-05 0 0 0.0001 . 0.0001 . . rs150268605 . . . . . . . . . . . . . 0.133 0.289 T 0.34 0.317 B 0.061 0.254 B 0.004 0.010 N 1 0.090 N 1.39 0.351 L 1.25 0.365 T -2.06 0.582 N 0.202 0.344 -1.086 0.062 T 0.052 0.222 T 0.002 0.025 T -0.511 0.055 0.206 0.775 0.115 0.027 0.072 N c -1.239 -1.386 0.000 0.068 0.554 0.246 0 -4.69 0.030 0.128 0.155 -0.721 0.036 0.001 0.137 0.002 0.062 1.095 0.016 . . . 4.491e-05 0 2.983e-05 0 0 0 9.039e-05 0 0 3.23e-05 0 0 0 0 0 6.668e-05 0 het 549.60 51 11 60183132 . G C 549.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.450;DP=51;Dels=0.00;FS=3.896;HRun=0;HaplotypeScore=4.9112;MQ=57.50;MQ0=0;MQRankSum=-0.067;QD=10.78;ReadPosRankSum=0.718;VQSLOD=2.7443;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,21:51:99:580,0,758 11 60197299 60197299 G A exonic MS4A5 nonsynonymous SNV MS4A5:NM_023945:exon1:c.G152A:p.G51E 0.016 0.0008 0.026 . 0.051 0.01 0.0364 0.0097 0.0253 0.0001 0.0125 0.0540 0.0402 0.0168 0.043 0.013 0.059 0.054 0.025 rs34169848 COSM3752535 2(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.629 D 0.961 0.382 D 3.03 0.867 M 2.9 0.101 T -7.94 0.963 D 0.351 0.787 -1.099 0.042 T 0.014 0.058 T . . . 4.911 0.660 25.0 0.997 0.798 0.868 0.458 D c 0.624 0.506 0.004 0.105 0.487 0.133 0 4.66 0.577 3.974 0.563 0.998 0.613 1.000 0.715 0.942 0.416 13.245 0.593 . ENSG00000166928.6 Testis 0.0366 0.0101 0.0257 0.1026 0.0001 0.0140 0.0529 0.0457 0.0164 0.0304 0.0097 0.0334 0.1026 0 0.0129 0.0484 0.0265 het 506.95 42 11 60197299 . G A 506.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.617;DP=42;Dels=0.00;FS=2.888;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;MQRankSum=0.466;QD=12.07;ReadPosRankSum=0.264;VQSLOD=6.7572;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,20:42:99:537,0,612 11 60285575 60285575 A G exonic MS4A13 nonsynonymous SNV MS4A13:NM_001012417:exon3:c.A19G:p.I7V,MS4A13:NM_001100909:exon3:c.A19G:p.I7V,MS4A13:NM_001278320:exon3:c.A19G:p.I7V 0.95 0.81 0.99 1. 1. 1. 0.9850 0.8404 0.9914 1 1 0.9994 0.9922 0.9994 0.95 0.85 1. 0.92 0.93 rs10736706 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.534 0.116 N 1 0.090 P -0.77 0.017 N 4.42 0.252 T -0.04 0.076 N 0.008 0.002 -0.966 0.380 T 0.000 0.000 T . . . -3.319 0.001 0.001 0.260 0.012 0.001 0.007 N c -1.904 -1.814 0.000 0.012 0.487 0.133 0 -2.11 0.068 0.051 0.139 -0.797 0.032 0.000 0.063 0.316 0.240 0.908 0.012 . . . 0.9879 0.8392 0.9894 0.9997 1 1 0.9993 0.9925 0.9993 0.9554 0.8458 0.9797 1 1 1 0.9993 0.9928 hom 2461.87 84 11 60285575 . A G 2461.87 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.15;MQ0=0;QD=29.31;VQSLOD=8.1274;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2495,199,0 11 60291413 60291413 C T exonic MS4A13 nonsynonymous SNV MS4A13:NM_001012417:exon4:c.C173T:p.P58L,MS4A13:NM_001100909:exon4:c.C173T:p.P58L 0.73 0.61 0.69 0.72 0.88 0.78 0.8185 0.6347 0.7253 0.7197 0.9240 0.8746 0.8462 0.7800 0.79 0.64 0.87 0.74 0.84 rs6591595 COSM5766925 1(large_intestine) . . . . . . . . . . . 0.007 0.599 D 0.953 0.536 P 0.343 0.483 B 0.713 0.063 N 1 0.090 P 2.25 0.640 M 4.19 0.235 T -4.45 0.923 D 0.116 0.127 -0.976 0.360 T 0.000 0.000 T . . . 4.065 0.546 23.7 0.991 0.524 0.055 0.113 N c -0.556 -0.747 0.000 0.012 0.487 0.133 0 1.32 0.208 -0.207 0.093 -0.583 0.045 0.000 0.063 0.000 0.016 6.865 0.231 . ENSG00000166959.3 Testis 0.8157 0.6274 0.7154 0.7659 0.7224 0.9209 0.8764 0.8302 0.7847 0.8070 0.6363 0.7081 0.8212 0.7213 0.9196 0.8907 0.8650 hom 2732.80 94 11 60291413 . C T 2732.80 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8237;MQ=59.36;MQ0=0;QD=29.07;VQSLOD=8.7499;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2766,208,0 11 60531346 60531346 T G exonic MS4A15 nonsynonymous SNV MS4A15:NM_001098835:exon2:c.T140G:p.L47R,MS4A15:NM_001278242:exon2:c.T140G:p.L47R 0.41 0.063 0.48 0.63 0.48 0.51 0.4597 0.1382 0.5476 0.6357 0.4803 0.4622 0.4442 0.4789 0.35 0.14 0.46 0.36 . rs1032939 COSM3722579 1(pancreas);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.09 0.319 T 0.999 0.764 D 0.996 0.832 D . . . 0.998 0.513 P 2.24 0.636 M 1.51 0.309 T -1.79 0.422 N 0.327 0.420 -1.020 0.238 T 0.000 0.000 T . . . 1.178 0.208 11.63 0.954 0.264 0.266 0.228 N c -0.507 -0.480 1.000 0.747 0.598 0.340 0 4.08 0.467 1.320 0.331 -0.779 0.033 0.981 0.351 0.005 0.090 7.988 0.292 . ENSG00000166959.3|ENSG00000166961.10 Muscle_Skeletal|Ovary 0.4642 0.1316 0.5374 0.3369 0.6242 0.4813 0.4688 0.4373 0.4768 0.3819 0.1424 0.5204 0.3591 0.6310 0.4725 0.4618 0.4480 het 1256.09 113 11 60531346 . T G 1256.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.807;DP=113;DS;Dels=0.00;FS=4.992;HRun=5;HaplotypeScore=1.6281;MQ=60.00;MQ0=0;MQRankSum=1.168;QD=11.12;ReadPosRankSum=-1.325;VQSLOD=5.3914;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,47:113:99:1286,0,2014 11 60610056 60610056 G C exonic CCDC86 nonsynonymous SNV CCDC86:NM_024098:exon1:c.G459C:p.Q153H 0.081 0.046 0.2 0.05 0.1 0.054 0.1112 0.0577 0.2625 0.0509 0.1510 0.1068 0.0941 0.0694 0.087 0.056 0.1 0.065 0.074 rs2074421 . . . . . . . . . . . . . 0.073 0.348 T 0.997 0.689 D 0.957 0.682 D 0.023 0.265 N 1 0.090 P 0.97 0.241 L 0.84 0.475 T -1.23 0.312 N 0.115 0.126 -1.050 0.145 T 0.001 0.004 T . . . 0.557 0.147 7.855 0.840 0.145 0.043 0.097 N c -0.144 -0.396 1.000 0.747 0.733 0.969 0 2.46 0.289 -0.482 0.066 0.784 0.316 0.000 0.063 0.008 0.104 11.047 0.469 . . . 0.1195 0.0529 0.2468 0.1197 0.0489 0.1552 0.1072 0.1107 0.0713 0.1007 0.0558 0.2189 0.1490 0.0420 0.1675 0.1094 0.1104 het 785.51 53 11 60610056 . G C 785.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.144;DP=53;Dels=0.00;FS=1.132;HRun=1;HaplotypeScore=3.7087;MQ=58.85;MQ0=0;MQRankSum=-0.986;QD=14.82;ReadPosRankSum=1.177;VQSLOD=4.7259;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,31:53:99:816,0,552 11 60620585 60620585 A G exonic PTGDR2 nonsynonymous SNV PTGDR2:NM_004778:exon2:c.T611C:p.V204A 0.98 0.94 0.99 1. 1. 1. 0.9960 0.9551 0.9966 1 1 0.9998 0.9988 0.9999 0.99 0.96 1. 0.37 0.88 rs2467642 COSM3752539 2(thyroid);5(large_intestine) . . . . . . . . . . . 0.883 0.025 T 0.0 0.026 B 0.0 0.013 B 0.371 0.044 N 1 0.090 P 0.825 0.210 L 1.22 0.370 T 0.16 0.052 N 0.009 0.001 -1.020 0.236 T 0.000 0.000 T . . . -1.261 0.023 0.005 0.659 0.077 0.022 0.064 N c -1.544 -1.530 1.000 0.747 0.403 0.052 0 -5.5 0.024 -0.686 0.052 -0.420 0.060 0.000 0.063 0.119 0.196 3.713 0.079 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9964 0.9526 0.9965 0.9999 1 1 0.9998 0.9977 0.9999 0.9881 0.9587 0.9976 1 0.9994 1 0.9997 0.9969 hom 632.18 21 11 60620585 . A G 632.18 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=30.10;VQSLOD=8.2062;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:60.14:665,60,0 11 60620590 60620590 C G exonic PTGDR2 synonymous SNV PTGDR2:NM_004778:exon2:c.G606C:p.R202R 0.98 0.94 0.99 1. 1. 1. 0.9960 0.9552 0.9966 1 1 0.9998 0.9988 0.9999 0.99 0.96 1. 0.41 0.93 rs2428461 COSM3752540 2(thyroid);7(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9524 0.9965 0.9999 1 1 0.9998 0.9977 0.9999 0.9881 0.9589 0.9976 1 0.9994 1 0.9997 0.9969 hom 755.36 25 11 60620590 . C G 755.36 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=30.21;VQSLOD=8.5104;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:66.16:788,66,0 11 60620692 60620692 C A exonic PTGDR2 synonymous SNV PTGDR2:NM_004778:exon2:c.G504T:p.V168V 0.023 0.018 0.0058 . 0.033 0.054 0.0255 0.0196 0.0124 0 0.0428 0.0234 0.0277 0.0531 0.019 0.017 0.021 0.011 . rs41352145 COSM3752541 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0240 0.0212 0.0118 0.0094 0 0.0359 0.0236 0.0269 0.0495 0.0218 0.0174 0.0131 0.0099 0 0.0373 0.0230 0.0337 het 601.29 47 11 60620692 . C A 601.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.074;DP=47;Dels=0.00;FS=4.288;HRun=2;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;MQRankSum=-1.160;QD=12.79;ReadPosRankSum=1.458;VQSLOD=5.3853;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,23:47:99:631,0,649 11 60635091 60635091 T C exonic ZP1 synonymous SNV ZP1:NM_207341:exon1:c.T57C:p.V19V 0.96 0.87 0.99 1. 1. 1. 0.9910 0.9054 0.9947 1 1 0.9994 0.9955 0.9997 0.97 0.91 1. 0.86 0.89 rs550479 COSM4145944 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9925 0.9002 0.9941 0.9945 1 1 0.9996 0.9961 0.9995 0.9731 0.9066 0.9940 0.9934 1 1 0.9997 0.9939 hom 845.86 27 11 60635091 . T C 845.86 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=57.73;MQ0=0;QD=31.33;VQSLOD=7.3769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:75.18:879,75,0 11 60636698 60636698 G A exonic ZP1 nonsynonymous SNV ZP1:NM_207341:exon2:c.G277A:p.V93I 0.0012 . . . 0.003 0.0031 0.0059 0.0010 0.0010 0 0.0132 0.0076 0.0088 0.0051 0.0046 0.0011 0.0064 . . rs145067883 . . . . . . . . . . . . . 0.086 0.326 T 0.096 0.239 B 0.014 0.158 B 0.003 0.361 N 1.000 0.182 N 0.895 0.225 L 1.61 0.284 T -0.49 0.156 N 0.082 0.228 -1.040 0.174 T 0.039 0.167 T . . . 2.013 0.303 16.29 0.997 0.828 0.119 0.168 N c -0.491 -0.477 0.952 0.279 0.487 0.133 0 2.13 0.263 0.498 0.221 0.813 0.334 0.271 0.248 0.339 0.244 3.968 0.089 . . . 0.0061 0.0011 0.0009 0.0075 5.798e-05 0.0158 0.0073 0.0064 0.0059 0.0069 0.0011 0.0024 0.0166 0 0.0166 0.0084 0.0143 het 1248 98 11 60636698 . G A 1248 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DP=98;Dels=0.00;FS=0.805;HRun=1;HaplotypeScore=4.1940;MQ=58.57;MQ0=0;MQRankSum=1.644;QD=12.73;ReadPosRankSum=-1.210;VQSLOD=3.7378;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,47:98:99:1278,0,1340 11 60637164 60637164 C T exonic ZP1 nonsynonymous SNV ZP1:NM_207341:exon3:c.C473T:p.T158I 0.69 0.84 0.82 0.4 0.82 0.58 0.7577 0.8401 0.8134 0.3946 0.7242 0.8156 0.7859 0.6345 0.83 0.84 0.82 0.75 0.77 rs489172 COSM4414965 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.082 0.332 T 0.061 0.217 B 0.006 0.112 B 0.206 0.033 N 1 0.090 P 0.46 0.130 N 1.9 0.235 T -1.58 0.381 N 0.046 0.026 -0.995 0.313 T 0.000 0.000 T . . . -0.007 0.093 2.519 0.887 0.176 0.045 0.100 N c -1.050 -1.071 0.768 0.236 0.487 0.133 0 1.19 0.200 -0.108 0.107 0.729 0.305 0.000 0.063 0.001 0.043 4.400 0.107 . . . 0.7597 0.8413 0.8176 0.9006 0.3937 0.7231 0.8131 0.8084 0.6403 0.7772 0.8403 0.8230 0.9040 0.3703 0.7162 0.7948 0.7510 hom 3105.82 109 11 60637164 . C T 3105.82 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.573;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1955;MQ=58.41;MQ0=0;MQRankSum=-0.810;QD=28.49;ReadPosRankSum=-0.111;VQSLOD=7.3218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,108:109:99:3139,224,0 11 60638470 60638470 A G exonic ZP1 synonymous SNV ZP1:NM_207341:exon5:c.A867G:p.V289V 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.98 rs566411 COSM4594651 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 8807.12 250 11 60638470 . A G 8807.12 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8932;MQ=59.35;MQ0=0;QD=35.23;VQSLOD=8.9413;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8806,698,0 11 60666341 60666341 G A exonic PRPF19 synonymous SNV PRPF19:NM_014502:exon12:c.C1047T:p.S349S 0.31 0.14 0.39 0.32 0.39 0.38 0.4315 0.2290 0.5034 0.3855 0.4767 0.4501 0.4327 0.4343 0.33 0.18 0.4 0.33 0.24 rs3763840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3718 0.1657 0.4189 0.4133 0.3103 0.3957 0.3789 0.3728 0.3989 0.3279 0.1864 0.4400 0.4570 0.2853 0.4 0.3860 0.3765 het 242.17 15 11 60666341 . G A 242.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.237;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.412;QD=16.14;ReadPosRankSum=-0.412;VQSLOD=12.0946;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,9:15:99:272,0,121 11 60689445 60689445 T C exonic TMEM109 synonymous SNV TMEM109:NM_024092:exon4:c.T540C:p.P180P 0.74 0.58 0.74 0.95 0.61 0.88 0.6908 0.5762 0.7990 0.9624 0.7012 0.6161 0.6542 0.8443 0.61 0.56 0.63 0.7 0.56 rs555835 COSM3723883 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6993 0.5776 0.7941 0.5373 0.9621 0.7117 0.6220 0.6432 0.8414 0.6463 0.586 0.7840 0.5762 0.9512 0.7095 0.6256 0.6704 het 1343.22 118 11 60689445 . T C 1343.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.377;DP=118;Dels=0.00;FS=2.489;HRun=2;HaplotypeScore=4.4585;MQ=59.33;MQ0=0;MQRankSum=1.550;QD=11.38;ReadPosRankSum=-0.090;VQSLOD=5.6261;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,54:118:99:1373,0,1689 11 60695301 60695301 C A exonic TMEM132A synonymous SNV TMEM132A:NM_017870:exon3:c.C504A:p.A168A,TMEM132A:NM_178031:exon3:c.C504A:p.A168A 0.74 0.53 0.76 0.95 0.65 0.89 0.7113 0.5555 0.8151 0.9619 0.7151 0.6462 0.6851 0.8537 0.62 0.55 0.66 0.72 0.3 rs575123 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7156 0.5446 0.8062 0.5548 0.9620 0.7226 0.6496 0.6676 0.8506 0.6519 0.5551 0.7931 0.5960 0.9519 0.7201 0.6506 0.6879 het 820.23 44 11 60695301 . C A 820.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.281;DP=44;Dels=0.00;FS=1.259;HRun=0;HaplotypeScore=2.7059;MQ=59.48;MQ0=0;MQRankSum=0.598;QD=18.64;ReadPosRankSum=-1.134;VQSLOD=5.3819;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,28:44:99:850,0,388 11 60698054 60698054 G A exonic TMEM132A synonymous SNV TMEM132A:NM_017870:exon5:c.G939A:p.L313L,TMEM132A:NM_178031:exon5:c.G939A:p.L313L 0.3 0.096 0.39 0.32 0.39 0.38 0.3678 0.1437 0.4283 0.3184 0.3935 0.3863 0.3819 0.4062 0.32 0.15 0.4 0.3 0.25 rs2074416 COSM5618983;COSM5618984 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3762 0.1363 0.4228 0.4050 0.3137 0.4034 0.3882 0.3770 0.4075 0.3172 0.1495 0.4376 0.4503 0.2862 0.4027 0.3849 0.3765 het 2298.76 164 11 60698054 . G A 2298.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.641;DP=164;DS;Dels=0.00;FS=6.170;HRun=0;HaplotypeScore=3.1235;MQ=59.44;MQ0=0;MQRankSum=0.289;QD=14.02;ReadPosRankSum=-1.419;VQSLOD=4.9652;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,80:164:99:2329,0,2496 11 60701136 60701136 C G exonic TMEM132A synonymous SNV TMEM132A:NM_017870:exon8:c.C1482G:p.P494P,TMEM132A:NM_178031:exon8:c.C1479G:p.P493P 0.42 0.47 0.45 0.32 0.42 0.44 0.4523 0.4949 0.4868 0.3444 0.4540 0.4443 0.4652 0.4860 0.43 0.46 0.42 0.5 0.25 rs9513 COSM3752542;COSM3752543 1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4225 0.4579 0.4527 0.4371 0.3088 0.4109 0.4138 0.4161 0.4694 0.4242 0.4703 0.4690 0.4801 0.2787 0.4126 0.4127 0.4189 het 132.14 10 11 60701136 . C G 132.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.676;DP=10;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.470;QD=13.21;ReadPosRankSum=0.851;VQSLOD=4.0573;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:162,0,136 11 60704213 60704213 C T exonic TMEM132A nonsynonymous SNV TMEM132A:NM_017870:exon11:c.C2909T:p.A970V,TMEM132A:NM_178031:exon11:c.C2906T:p.A969V 0.42 0.47 0.45 0.32 0.42 0.44 0.4304 0.4761 0.4600 0.3147 0.4125 0.4211 0.4469 0.4882 0.44 0.47 0.43 0.51 0.26 rs2469887 . . . . . . . . . . . . . 0.011 0.555 D 0.098 0.240 B 0.008 0.127 B 0.026 0.260 N 0.890 0.279 P 2.545 0.745 M 3.28 0.065 T -1.1 0.285 N 0.099 0.101 -0.924 0.451 T 0.000 0.000 T . . . 5.531 0.752 26.3 0.997 0.810 0.785 0.384 D c -0.190 -0.146 1.000 0.467 0.635 0.413 0 3.7 0.414 4.648 0.609 0.935 0.490 0.607 0.276 0.239 0.226 5.148 0.142 . ENSG00000110107.4|ENSG00000006118.10|ENSG00000110107.4|ENSG00000110107.4|ENSG00000256813.1|ENSG00000006118.10 Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Nerve_Tibial|Thyroid 0.4259 0.4614 0.4583 0.4423 0.3092 0.4142 0.4180 0.4225 0.4720 0.4241 0.4709 0.4713 0.4801 0.2796 0.4131 0.4119 0.4151 het 289.54 26 11 60704213 . C T 289.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.135;DP=26;Dels=0.00;FS=4.809;HRun=0;HaplotypeScore=0.0000;MQ=58.38;MQ0=0;MQRankSum=1.414;QD=11.14;ReadPosRankSum=0.797;VQSLOD=5.1546;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,12:26:99:320,0,418 11 60705454 60705454 A G exonic SLC15A3 synonymous SNV SLC15A3:NM_016582:exon7:c.T1479C:p.G493G 0.99 0.98 1. 1. 1. 1. 0.9978 0.9756 0.9994 1 1 1.0000 1 1 0.99 0.97 1. 1. 0.99 rs2905692 COSM4145954 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9981 0.9746 0.9978 1 0.9999 1 1.0000 0.9993 1 0.9922 0.9725 1 1 1 1 1 1 hom 1520.56 54 11 60705454 . A G 1520.56 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6511;MQ=58.80;MQ0=0;QD=28.16;VQSLOD=7.5654;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1554,123,0 11 60785263 60785263 A G exonic CD6 nonsynonymous SNV CD6:NM_001254750:exon10:c.A1519G:p.T507A,CD6:NM_001254751:exon10:c.A1492G:p.T498A,CD6:NM_006725:exon11:c.A1615G:p.T539A 0.029 0.0038 0.027 0.001 0.065 0.055 0.0546 0.0099 0.0303 0.0009 0.0691 0.0676 0.0740 0.0684 0.048 0.012 0.067 0.043 0.041 rs61755080 COSM4145956;COSM4145955 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.037 0.018 N 1 0.090 N -1.59 0.004 N 5.27 0.012 T 0.46 0.050 N 0.01 0.297 -0.948 0.413 T 0.000 0.001 T . . . -1.259 0.023 0.005 0.216 0.008 0.006 0.026 N c -1.642 -1.565 0.017 0.129 0.516 0.203 0 -0.449 0.116 0.211 0.171 -1.888 0.006 0.000 0.063 0.000 0.016 6.763 0.226 . . . 0.0533 0.0102 0.0287 0.0576 0.0006 0.0664 0.0669 0.0594 0.0696 0.0464 0.0102 0.0322 0.0530 0.0025 0.0686 0.0665 0.0643 het 2501.24 184 11 60785263 . A G 2501.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.211;DP=184;Dels=0.00;FS=4.323;HRun=0;HaplotypeScore=6.6465;MQ=59.03;MQ0=0;MQRankSum=0.484;QD=13.59;ReadPosRankSum=0.361;VQSLOD=4.6920;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,92:184:99:2531,0,2340 11 60785352 60785352 A G exonic CD6 synonymous SNV CD6:NM_001254750:exon10:c.A1608G:p.S536S,CD6:NM_001254751:exon10:c.A1581G:p.S527S,CD6:NM_006725:exon11:c.A1704G:p.S568S 0.47 0.64 0.42 0.17 0.68 0.34 0.5549 0.6537 0.3385 0.1701 0.4968 0.6717 0.6150 0.3935 0.66 0.65 0.67 0.46 0.63 rs1050922 COSM5654190;COSM5654191 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5442 0.6551 0.3617 0.8032 0.1714 0.4906 0.6651 0.6193 0.4007 0.5895 0.6495 0.4234 0.7987 0.1654 0.4842 0.6309 0.5776 het 2182.74 157 11 60785352 . A G 2182.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.444;DP=157;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=6.6648;MQ=59.52;MQ0=0;MQRankSum=1.745;QD=13.90;ReadPosRankSum=-0.053;VQSLOD=4.5218;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,81:157:99:2213,0,2083 11 60886423 60886423 C T exonic CD5 nonsynonymous SNV CD5:NM_001346456:exon4:c.C266T:p.P89L,CD5:NM_014207:exon4:c.C437T:p.P146L 0.0004 . . . 0.002 . 0.0004 0.0004 0.0004 0 0 0.0007 0 0 0.0007 . 0.001 . . rs139537878 COSM4574551 2(bone) . . . . . . . . . . . 0.24 0.321 T 0.919 0.489 P 0.159 0.330 B 0.006 0.323 N 0.999 0.213 N 1.355 0.339 L 4.75 0.034 T -3.03 0.627 D 0.286 0.358 -0.916 0.461 T 0.009 0.034 T 0.007 0.193 T 1.666 0.261 14.21 0.704 0.090 0.081 0.139 N c -0.328 -0.433 0.602 0.217 0.526 0.212 0 3.5 0.390 1.610 0.363 0.919 0.430 0.067 0.218 0.055 0.167 8.826 0.340 . . . 0.0006 0.0003 0.0006 0.0010 0 4.499e-05 0.0009 0.0005 0.0001 0.0007 0.0001 0 0 0 0 0.0013 0 het 812.21 60 11 60886423 . C T 812.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.700;DP=60;Dels=0.00;FS=1.007;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=-0.401;QD=13.54;ReadPosRankSum=-0.030;VQSLOD=4.8342;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,33:60:99:842,0,575 11 60892606 60892606 A G exonic CD5 nonsynonymous SNV CD5:NM_001346456:exon9:c.A1211G:p.H404R,CD5:NM_014207:exon9:c.A1382G:p.H461R 0.97 0.99 0.95 1. 0.92 0.96 0.9380 0.9835 0.9666 0.9999 0.9334 0.9151 0.9172 0.9522 0.94 0.98 0.91 0.87 0.94 rs637186 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.230 0.035 N 1 0.090 P -0.11 0.046 N 1.64 0.278 T -0.46 0.150 N 0.009 0.001 -0.978 0.355 T 0.000 0.000 T . . . -1.733 0.012 0.002 0.615 0.066 0.017 0.053 N c -1.711 -1.669 0.996 0.347 0.421 0.056 0 -2.65 0.057 -0.257 0.087 -0.660 0.040 0.000 0.063 0.000 0.016 11.233 0.480 . . . 0.9366 0.9845 0.9614 0.9006 0.9999 0.9305 0.9137 0.9310 0.9505 0.9424 0.9838 0.9557 0.9205 1 0.9227 0.9175 0.9257 hom 2519.28 79 11 60892606 . A G 2519.28 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8315;MQ=59.71;MQ0=0;QD=31.89;VQSLOD=8.9482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2552,205,0 11 60893235 60893235 C T exonic CD5 nonsynonymous SNV CD5:NM_001346456:exon10:c.C1241T:p.A414V,CD5:NM_014207:exon10:c.C1412T:p.A471V 0.69 0.51 0.66 0.99 0.55 0.8 0.6105 0.5163 0.7287 0.9932 0.6185 0.5218 0.5757 0.7435 0.51 0.53 0.5 0.66 0.52 rs2229177 . . . . . . . . . . . . . 0.038 0.427 D 1.0 0.899 D 0.952 0.674 D 0.000 0.523 D 0.010 0.411 P 1.845 0.488 L 1.49 0.315 T -2.53 0.548 D 0.193 0.278 -1.050 0.144 T 0.000 0.000 T . . . 6.517 0.898 31 0.999 0.962 0.943 0.606 D c 0.491 0.485 1.000 0.747 0.581 0.326 0 5.01 0.663 4.589 0.605 0.852 0.362 1.000 0.715 0.245 0.227 16.482 0.839 . ENSG00000110448.6|ENSG00000110448.6|ENSG00000110448.6|ENSG00000110448.6|ENSG00000110448.6|ENSG00000110448.6|ENSG00000167987.6|ENSG00000110448.6|ENSG00000110448.6|ENSG00000110448.6|ENSG00000110448.6|ENSG00000110448.6|ENSG00000110448.6|ENSG00000167987.6 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis 0.6140 0.5150 0.7140 0.5335 0.9942 0.6141 0.5128 0.5859 0.7385 0.5559 0.5098 0.6364 0.5861 0.9913 0.6052 0.5176 0.5768 het 1130.01 97 11 60893235 . C T 1130.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.046;DP=97;Dels=0.00;FS=1.657;HRun=1;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=0.328;QD=11.65;ReadPosRankSum=1.375;VQSLOD=6.1635;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,47:97:99:1160,0,1205 11 61106892 61106892 G C exonic TKFC synonymous SNV TKFC:NM_015533:exon5:c.G471C:p.T157T 0.77 0.31 0.93 0.97 0.98 0.83 0.9219 0.4076 0.9725 0.9596 0.9845 0.9918 0.9476 0.8652 0.8 0.44 0.99 0.65 0.48 rs2513329 COSM4145965 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9332 0.3938 0.9690 0.9892 0.9618 0.9852 0.9919 0.9585 0.8693 0.8246 0.4155 0.9547 0.9834 0.9648 0.9891 0.9906 0.9346 hom 1446.09 51 11 61106892 . G C 1446.09 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=57.56;MQ0=0;QD=28.35;VQSLOD=6.4745;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:51:99:1479,132,0 11 61112802 61112802 C T exonic TKFC synonymous SNV TKFC:NM_015533:exon14:c.C1311T:p.V437V 0.79 0.4 0.94 0.97 0.99 0.83 0.9259 0.4742 0.9745 0.9626 0.9850 0.9921 0.9517 0.8613 0.82 0.49 0.99 0.67 0.95 rs2305465 COSM5428514 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9377 0.4686 0.9728 0.9894 0.9648 0.9855 0.9920 0.9607 0.8677 0.8435 0.4818 0.9582 0.9834 0.9655 0.9894 0.9908 0.9389 hom 2124.32 67 11 61112802 . C T 2124.32 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.71;VQSLOD=13.2624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2157,174,0 11 61165280 61165280 G A exonic TMEM216 synonymous SNV TMEM216:NM_001173990:exon4:c.G264A:p.P88P,TMEM216:NM_001173991:exon4:c.G264A:p.P88P,TMEM216:NM_001330285:exon4:c.G81A:p.P27P,TMEM216:NM_016499:exon4:c.G81A:p.P27P 0.86 0.74 0.88 0.98 0.87 0.85 0.8659 0.7574 0.8855 0.9660 0.8803 0.8649 0.8875 0.8613 0.83 0.77 0.86 0.77 . rs3741265 . . other|Benign|Benign not_specified|Joubert_syndrome|Meckel-Gruber_syndrome RCV000114238.3|RCV000361073.1|RCV000405990.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004|C0265215:ORPHA564:29076005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8711 0.7591 0.8894 0.8979 0.9677 0.8814 0.8627 0.8784 0.8660 0.8513 0.7682 0.8914 0.8974 0.9710 0.8906 0.8734 0.8656 hom 7806.62 250 11 61165280 . G A 7806.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.329;DP=250;DS;Dels=0.00;FS=4.337;HRun=0;HaplotypeScore=4.5556;MQ=59.82;MQ0=0;MQRankSum=-0.118;QD=31.23;ReadPosRankSum=1.482;VQSLOD=4.2750;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,248:250:99:7772,589,0 11 61165741 61165741 G C exonic;splicing TMEM216;TMEM216 NM_001173990:exon5:c.432-1G>C;NM_001330285:exon5:c.249-1G>C nonsynonymous SNV TMEM216:NM_001173991:exon5:c.G440C:p.R147T,TMEM216:NM_016499:exon5:c.G257C:p.R86T 0.72 0.29 0.84 0.97 0.85 0.81 0.8153 0.3612 0.8511 0.9588 0.8693 0.8478 0.8586 0.8261 0.7 0.39 0.85 0.6 . rs10897158 COSM1582850 1(meninges) Benign|Benign|Benign not_specified|Joubert_syndrome|Meckel-Gruber_syndrome RCV000114239.5|RCV000200066.5|RCV000291379.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004|C0265215:ORPHA564:29076005 . . . . . . 0.125 0.273 T . . . . . . . . . 0.999 0.588 P . . . -2.49 0.892 D -0.15 0.093 N 0.403 0.462 -0.935 0.434 T 0.000 0.000 T . . . 4.133 0.554 23.8 0.958 0.274 0.692 0.338 D c 0.830 0.664 0.397 0.201 0.732 0.924 0 4.1 0.470 0.817 0.267 0.142 0.226 1.000 0.715 0.992 0.562 9.284 0.367 . . . 0.8303 0.3491 0.8628 0.8924 0.9623 0.8756 0.8489 0.8530 0.8343 0.7281 0.3666 0.8589 0.8933 0.9677 0.8863 0.8584 0.8388 hom 1220.95 43 11 61165741 . G C 1220.95 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.69;MQ0=0;QD=28.39;VQSLOD=7.1623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1254,102,0 11 61179285 61179285 G A exonic CPSF7 synonymous SNV CPSF7:NM_001136040:exon8:c.C1209T:p.I403I,CPSF7:NM_001142565:exon8:c.C1182T:p.I394I,CPSF7:NM_024811:exon8:c.C1338T:p.I446I 0.72 0.29 0.84 0.97 0.85 0.81 0.8189 0.3620 0.8645 0.9622 0.8766 0.8550 0.8601 0.8283 0.69 0.37 0.85 0.6 0.8 rs3019198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8324 0.3531 0.8663 0.8911 0.9636 0.8777 0.8521 0.8519 0.8339 0.7304 0.3685 0.8604 0.8940 0.9685 0.8862 0.8610 0.8418 hom 4179.63 130 11 61179285 . G A 4179.63 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=32.15;VQSLOD=9.4411;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4179,325,0 11 61249383 61249383 C A exonic PPP1R32 synonymous SNV PPP1R32:NM_001170753:exon2:c.C102A:p.T34T,PPP1R32:NM_145017:exon2:c.C102A:p.T34T 0.78 0.5 0.85 0.97 0.83 0.84 0.8139 0.5370 0.8679 0.9666 0.8094 0.8206 0.8285 0.8429 0.72 0.53 0.82 0.7 0.77 rs3019200 COSM4145969 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8157 0.5227 0.8582 0.8815 0.9684 0.8044 0.8151 0.8372 0.8401 0.7473 0.5403 0.8648 0.8940 0.9716 0.8157 0.8133 0.8135 hom 1785.77 61 11 61249383 . C A 1785.77 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=29.27;VQSLOD=8.9600;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1819,138,0 11 61487690 61487690 G A exonic DAGLA synonymous SNV DAGLA:NM_006133:exon2:c.G63A:p.P21P 0.3 0.23 0.32 0.46 0.24 0.28 0.2699 0.2161 0.3027 0.4500 0.2510 0.2532 0.2621 0.2621 0.24 0.23 0.25 0.23 0.25 rs198430 COSM429407 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2735 0.2164 0.3057 0.2271 0.4601 0.2512 0.2551 0.2754 0.2596 0.2567 0.2177 0.3115 0.2616 0.4907 0.25 0.2536 0.2403 het 1214.49 100 11 61487690 . G A 1214.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.738;DP=100;Dels=0.00;FS=1.680;HRun=0;HaplotypeScore=1.8997;MQ=58.78;MQ0=0;MQRankSum=-0.801;QD=12.14;ReadPosRankSum=-0.421;VQSLOD=5.9062;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,47:100:99:1244,0,1352 11 61505168 61505168 G A exonic DAGLA synonymous SNV DAGLA:NM_006133:exon15:c.G1524A:p.A508A 0.49 0.36 0.5 0.8 0.43 0.41 0.4531 0.3512 0.4625 0.8108 0.4539 0.4304 0.4802 0.4133 0.41 0.36 0.44 0.45 0.36 rs198444 COSM3998516 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4578 0.3512 0.4675 0.3971 0.8134 0.4534 0.4327 0.4630 0.4134 0.4325 0.3516 0.4628 0.3953 0.7964 0.4412 0.4380 0.4170 het 1740.04 137 11 61505168 . G A 1740.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.517;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.0535;MQ=59.15;MQ0=0;MQRankSum=-0.209;QD=12.70;ReadPosRankSum=-1.493;VQSLOD=4.5585;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,71:137:99:1770,0,1639 11 61551356 61551356 T C exonic MYRF synonymous SNV MYRF:NM_013279:exon23:c.T3033C:p.S1011S,MYRF:NM_001127392:exon24:c.T3153C:p.S1051S 0.34 0.15 0.6 0.57 0.35 0.16 0.4005 0.2187 0.7269 0.5603 0.4851 0.3825 0.3827 0.2085 0.29 0.2 0.33 0.26 0.3 rs174535 COSM3752556;COSM1355261 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3790 0.1876 0.6799 0.2829 0.5594 0.4202 0.3366 0.3901 0.1889 0.3346 0.1985 0.6235 0.3278 0.5806 0.4287 0.3476 0.3617 het 695.72 43 11 61551356 . T C 695.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.588;DP=43;Dels=0.00;FS=1.186;HRun=0;HaplotypeScore=1.7262;MQ=58.03;MQ0=0;MQRankSum=0.110;QD=16.18;ReadPosRankSum=-0.718;VQSLOD=4.9648;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,23:43:99:726,0,442 11 61672235 61672235 T C exonic RAB3IL1 synonymous SNV RAB3IL1:NM_001271686:exon5:c.A699G:p.T233T,RAB3IL1:NM_013401:exon6:c.A777G:p.T259T 0.35 0.36 0.22 0.38 0.23 0.52 0.3456 0.3972 0.3802 0.4125 0.3614 0.2683 0.3031 0.5156 0.27 0.36 0.22 0.4 0.2 rs174473 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2828 0.3580 0.2750 0.1683 0.3780 0.2689 0.2180 0.2518 0.4824 0.2744 0.3520 0.2548 0.1722 0.3630 0.2663 0.2253 0.2665 het 273.80 20 11 61672235 . T C 273.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.532;DP=20;Dels=0.00;FS=10.349;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-0.608;QD=13.69;ReadPosRankSum=1.368;VQSLOD=4.4563;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,11:20:99:304,0,265 11 61672265 61672265 T C exonic RAB3IL1 synonymous SNV RAB3IL1:NM_001271686:exon5:c.A669G:p.R223R,RAB3IL1:NM_013401:exon6:c.A747G:p.R249R 0.31 0.27 0.2 0.34 0.23 0.51 0.3135 0.3011 0.3541 0.3726 0.3288 0.2489 0.2723 0.5039 0.24 0.28 0.23 0.34 0.26 rs174474 COSM3752557 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2767 0.2737 0.2728 0.1964 0.3466 0.2708 0.2217 0.2487 0.4748 0.2511 0.2677 0.2464 0.2152 0.3304 0.2668 0.2292 0.2658 het 349.66 20 11 61672265 . T C 349.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.176;DP=20;Dels=0.00;FS=5.180;HRun=1;HaplotypeScore=0.8321;MQ=58.84;MQ0=0;MQRankSum=-1.435;QD=17.48;ReadPosRankSum=-0.417;VQSLOD=4.1923;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,15:20:99:380,0,121 11 61674118 61674118 C T exonic RAB3IL1 synonymous SNV RAB3IL1:NM_013401:exon5:c.G477A:p.T159T 0.16 0.025 0.23 0.031 0.4 0.18 0.3392 0.0934 0.1994 0.0380 0.4011 0.4486 0.3534 0.2325 0.3 0.086 0.41 0.16 0.35 rs174476 COSM4145978 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2999 0.0705 0.1755 0.4456 0.0282 0.3324 0.4169 0.3406 0.2059 0.2790 0.0766 0.2170 0.4404 0.0217 0.3279 0.4096 0.3402 het 286.97 24 11 61674118 . C T 286.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.622;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.174;QD=11.96;ReadPosRankSum=0.058;VQSLOD=6.0057;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,13:24:99:317,0,289 11 61719387 61719387 T C exonic BEST1 synonymous SNV BEST1:NM_004183:exon2:c.T109C:p.L37L 0.68 0.8 0.59 0.9 0.31 0.75 0.4847 0.7287 0.6532 0.9087 0.4587 0.3119 0.4361 0.7022 0.45 0.72 0.31 0.69 0.32 rs1800007 COSM3752558 1(breast);1(large_intestine) not provided|Benign|Benign|Benign|Benign not_provided|not_specified|Retinitis_Pigmentosa\x2c_Recessive|Vitreoretinochoroidopathy|Vitelliform_macular_dystrophy_type_2 RCV000086084.1|RCV000152861.4|RCV000283689.1|RCV000341149.1|RCV000398665.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN221809|CN169374|CN239466|C1860406:193220:ORPHA3086|C0339510:153700:ORPHA1243:90036004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4868 0.7335 0.6237 0.2652 0.9134 0.4593 0.3149 0.4185 0.7023 0.5058 0.7390 0.5573 0.3212 0.9145 0.4532 0.3442 0.4276 het 1622.19 148 11 61719387 . T C 1622.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.310;DP=148;Dels=0.00;FS=4.501;HRun=1;HaplotypeScore=2.5743;MQ=59.21;MQ0=0;MQRankSum=0.280;QD=10.96;ReadPosRankSum=-0.179;VQSLOD=6.0555;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:87,61:148:99:1652,0,2740 11 61895741 61895741 A G exonic INCENP synonymous SNV INCENP:NM_001040694:exon2:c.A108G:p.E36E,INCENP:NM_020238:exon2:c.A108G:p.E36E 0.35 0.33 0.38 0.13 0.69 0.24 0.5191 0.3631 0.2812 0.1059 0.6143 0.6838 0.5706 0.2938 0.58 0.37 0.69 0.28 0.65 rs1675131 COSM4145987 1(breast);1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5145 0.3585 0.3077 0.7188 0.1056 0.6115 0.6816 0.5849 0.2924 0.5357 0.3538 0.3687 0.6788 0.0964 0.6054 0.6762 0.5849 hom 1711.62 53 11 61895741 . A G 1711.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.267;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5778;MQ=58.60;MQ0=0;MQRankSum=-1.399;QD=32.29;ReadPosRankSum=1.066;VQSLOD=9.1023;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,52:53:99:1745,110,0 11 61897359 61897359 C T exonic INCENP synonymous SNV INCENP:NM_001040694:exon4:c.C360T:p.V120V,INCENP:NM_020238:exon4:c.C360T:p.V120V 0.35 0.32 0.38 0.12 0.69 0.24 0.5153 0.3523 0.2810 0.0967 0.6072 0.6811 0.5665 0.2926 0.57 0.36 0.68 0.28 0.66 rs1675133 COSM429423 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5105 0.3459 0.3067 0.7187 0.0977 0.6055 0.6785 0.5805 0.2911 0.5284 0.3397 0.3663 0.6788 0.0911 0.5995 0.6711 0.5874 het 1409.17 117 11 61897359 . C T 1409.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.102;DP=117;Dels=0.00;FS=1.866;HRun=1;HaplotypeScore=5.7229;MQ=60.00;MQ0=0;MQRankSum=0.783;QD=12.04;ReadPosRankSum=2.206;VQSLOD=3.7454;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,54:117:99:1439,0,1718 11 61906374 61906374 T C exonic INCENP synonymous SNV INCENP:NM_001040694:exon7:c.T1188C:p.N396N,INCENP:NM_020238:exon7:c.T1188C:p.N396N 0.79 0.91 0.9 0.49 0.91 0.72 0.8436 0.9088 0.8876 0.4549 0.7404 0.9117 0.8469 0.7412 0.92 0.91 0.92 0.73 0.9 rs1675126 COSM147259 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8421 0.9066 0.8922 0.9504 0.4552 0.7418 0.9132 0.8852 0.7450 0.8532 0.8996 0.9081 0.9305 0.4573 0.7391 0.8918 0.8391 hom 6498.48 218 11 61906374 . T C 6498.48 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.716;DP=218;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5769;MQ=59.55;MQ0=0;MQRankSum=-1.303;QD=29.81;ReadPosRankSum=-0.890;VQSLOD=8.5930;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,217:218:99:6497,547,0 11 61908440 61908440 T C exonic INCENP nonsynonymous SNV INCENP:NM_001040694:exon10:c.T1517C:p.M506T,INCENP:NM_020238:exon10:c.T1517C:p.M506T 0.17 0.15 0.19 0.074 0.3 0.15 0.2489 0.1677 0.1243 0.0644 0.2826 0.3161 0.2815 0.1975 0.27 0.18 0.31 0.16 0.33 rs2277283 COSM3752564;COSM3752563 1(large_intestine) . . . . . . . . . . . 0.031 0.453 D 0.568 0.764 P 0.472 0.774 P 0.000 0.629 D 0.000 0.489 P 1.995 0.543 M 1.05 0.400 T -4.13 0.754 D 0.321 0.382 -1.040 0.171 T 0.000 0.000 T . . . 3.913 0.527 23.5 0.958 0.272 0.970 0.719 D c 0.576 0.600 1.000 0.747 0.707 0.730 0 5.46 0.799 3.842 0.553 1.061 0.807 1.000 0.715 0.989 0.536 13.501 0.607 . ENSG00000240823.2|ENSG00000149503.8 Skin_Sun_Exposed_Lower_leg|Thyroid 0.2433 0.1646 0.1332 0.2511 0.0639 0.2856 0.3174 0.2723 0.1956 0.2492 0.1632 0.1611 0.2517 0.0667 0.2828 0.3153 0.2622 het 1306.80 103 11 61908440 . T C 1306.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.099;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3472;MQ=59.00;MQ0=0;MQRankSum=0.228;QD=12.69;ReadPosRankSum=-0.508;VQSLOD=5.2716;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,55:103:99:1337,0,1177 11 61913196 61913196 G T exonic INCENP nonsynonymous SNV INCENP:NM_020238:exon13:c.G1920T:p.E640D,INCENP:NM_001040694:exon14:c.G1932T:p.E644D 0.29 0.2 0.34 0.12 0.63 0.23 0.4805 0.2604 0.4169 0.1478 0.6119 0.6511 0.5394 0.3109 0.5 0.26 0.62 0.24 0.17 rs7129085 COSM3752565 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.101 0.318 T 1.0 0.899 D 0.996 0.832 D 0.000 0.559 D 0.275 0.348 P 2.57 0.754 M 2.15 0.193 T -2.02 0.465 N 0.098 0.100 -0.935 0.435 T 0.000 0.000 T . . . 3.675 0.499 23.3 0.992 0.559 0.881 0.476 D c 0.227 0.141 0.074 0.157 0.719 0.830 0 0.398 0.155 0.973 0.288 0.141 0.225 1.000 0.715 0.658 0.300 8.874 0.343 . ENSG00000149503.8|ENSG00000149503.8|ENSG00000149503.8|ENSG00000149503.8|ENSG00000149503.8|ENSG00000124939.4|ENSG00000124939.4 Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.4573 0.2380 0.2956 0.6998 0.0989 0.5197 0.6223 0.5324 0.2878 0.4557 0.2336 0.3309 0.6656 0.0897 0.5258 0.6066 0.5215 het 104.93 13 11 61913196 . G T 104.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.991;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.696;QD=8.07;ReadPosRankSum=-0.271;VQSLOD=11.5122;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,5:13:99:135,0,239 11 62010863 62010863 C T exonic SCGB1D2 nonsynonymous SNV SCGB1D2:NM_006551:exon2:c.C158T:p.P53L 0.47 0.23 0.43 0.79 0.34 0.63 0.4181 0.2286 0.5531 0.7962 0.4064 0.3345 0.4097 0.5882 0.3 0.24 0.33 0.43 0.4 rs2232950 COSM3752569 1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.188 0.213 T 0.897 0.474 P 0.3 0.393 B 0.010 0.013 N 1 0.090 P . . . 2.37 0.160 T -6.43 0.913 D 0.06 0.044 -0.944 0.420 T 0.000 0.000 T . . . 2.479 0.359 19.33 0.628 0.069 0.003 0.015 N c -1.108 -1.383 0.000 0.071 0.497 0.185 0 -4.87 0.029 -5.849 0.001 -0.606 0.044 0.000 0.063 0.000 0.016 5.506 0.160 . . . 0.4261 0.2261 0.5382 0.3235 0.7938 0.4033 0.3335 0.3946 0.5880 0.3454 0.2259 0.5024 0.3411 0.8019 0.4215 0.3364 0.3898 het 2703.33 209 11 62010863 . C T 2703.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.476;DP=209;Dels=0.00;FS=1.724;HRun=0;HaplotypeScore=8.4697;MQ=58.72;MQ0=0;MQRankSum=1.745;QD=12.93;ReadPosRankSum=-0.353;VQSLOD=4.5045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,102:209:99:2733,0,2762 11 62292882 62292882 G T exonic AHNAK nonsynonymous SNV AHNAK:NM_001346445:exon5:c.C9007A:p.Q3003K,AHNAK:NM_001346446:exon5:c.C9007A:p.Q3003K,AHNAK:NM_001620:exon5:c.C9007A:p.Q3003K 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs566144 COSM4591032;COSM4591033 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P -2.045 0.002 N 2.88 0.103 T 1.38 0.009 N 0.054 0.036 -1.013 0.260 T 0.000 0.000 T . . . -0.671 0.046 0.084 0.180 0.005 0.038 0.090 N c -1.503 -1.232 0.740 0.232 0.707 0.730 0 3.97 0.451 0.438 0.211 -0.008 0.133 0.904 0.313 0.067 0.174 5.639 0.167 . . . 1 1 1 1 1 1 1 1 1 0.9999 1 1 1 1 1 0.9999 1 hom 8016.14 230 11 62292882 . G T 8016.14 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6443;MQ=56.63;MQ0=0;QD=34.85;VQSLOD=4.7817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:8015,641,0 11 62293948 62293948 G A exonic AHNAK synonymous SNV AHNAK:NM_001346445:exon5:c.C7941T:p.S2647S,AHNAK:NM_001346446:exon5:c.C7941T:p.S2647S,AHNAK:NM_001620:exon5:c.C7941T:p.S2647S 0.47 0.078 0.67 0.3 0.74 0.77 0.6638 0.1725 0.6998 0.2871 0.8476 0.7392 0.7203 0.7637 0.56 0.19 0.74 0.41 0.69 rs486903 COSM147262;COSM4783646 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6759 0.1619 0.6988 0.6176 0.2866 0.8416 0.7469 0.6861 0.7637 0.5748 0.1716 0.6845 0.6093 0.2963 0.8322 0.7656 0.7391 hom 8251.47 250 11 62293948 . G A 8251.47 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6263;MQ=58.74;MQ0=0;QD=33.01;VQSLOD=8.0266;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8250,698,0 11 62381106 62381106 G C exonic ROM1 nonsynonymous SNV ROM1:NM_000327:exon1:c.G353C:p.G118A 0.94 0.77 0.98 1. 0.99 1. 0.9822 0.8119 0.9923 0.9999 1 0.9982 0.9910 0.9990 0.94 0.82 1. 0.88 0.67 rs1799959 COSM3752576 1(large_intestine) Benign not_specified RCV000153845.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.004 0.338 N 1 0.203 P -0.55 0.024 N -1.04 0.766 T 0.9 0.016 N 0.132 0.152 -0.932 0.439 T 0.000 0.000 T . . . -2.301 0.005 0.001 0.522 0.046 0.020 0.059 N c -1.415 -1.260 1.000 0.747 0.520 0.209 0 3.72 0.417 0.310 0.190 0.038 0.153 0.001 0.137 0.005 0.090 11.333 0.485 . . . 0.9851 0.8065 0.9898 0.9920 0.9994 1 0.9983 0.9879 0.9990 0.9428 0.8044 0.9809 1 0.9988 1 0.9978 0.9847 hom 1302.90 39 11 62381106 . G C 1302.90 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9916;MQ=59.36;MQ0=0;QD=33.41;VQSLOD=9.0835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1336,111,0 11 62458275 62458275 T C exonic BSCL2 nonsynonymous SNV BSCL2:NM_001130702:exon8:c.A803G:p.K268R 0.14 0.084 0.16 0.085 0.19 0.18 0.1784 0.1083 0.1361 0.0848 0.1308 0.2159 0.1446 0.1700 0.18 0.11 0.22 0.13 0.16 rs6856 COSM3752582;COSM3752583 1(large_intestine) other|Benign|Benign not_specified|Neurologic_Disorders/Seipinopathy|Berardinelli-Seip_congenital_lipodystrophy RCV000116505.3|RCV000320427.1|RCV000377345.1 MedGen C0221032 . . . . . . 0.187 0.214 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . -2.65 0.902 D -0.21 0.103 N . . -1.051 0.142 T 0.001 0.002 T . . . 0.237 0.117 5.060 0.982 0.383 0.024 0.067 N c -0.932 -0.995 1.000 0.500 0.707 0.730 0 -3.94 0.038 -0.198 0.094 1.061 0.807 0.038 0.207 0.998 0.697 6.268 0.200 . ENSG00000162222.9|ENSG00000162222.9|ENSG00000162222.9|ENSG00000162222.9|ENSG00000214753.2|ENSG00000162222.9|ENSG00000149499.7|ENSG00000162222.9|ENSG00000162222.9|ENSG00000162222.9|ENSG00000214753.2|ENSG00000162222.9|ENSG00000162222.9|ENSG00000162222.9 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.1739 0.1041 0.1361 0.1596 0.0834 0.1298 0.2228 0.1711 0.1665 0.1616 0.1068 0.1587 0.1788 0.0949 0.1347 0.2064 0.1684 het 971 111 11 62458275 . T C 971 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.202;DP=111;Dels=0.00;FS=0.758;HRun=1;HaplotypeScore=4.2012;MQ=59.38;MQ0=0;MQRankSum=-0.114;QD=8.75;ReadPosRankSum=1.107;VQSLOD=5.2963;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,37:111:99:1001,0,2040 11 62496519 62496519 T C exonic TTC9C synonymous SNV TTC9C:NM_173810:exon1:c.T199C:p.L67L,TTC9C:NM_001318812:exon2:c.T199C:p.L67L,TTC9C:NM_001318813:exon2:c.T199C:p.L67L 0.29 0.49 0.21 0.24 0.21 0.22 0.2404 0.4677 0.1586 0.2309 0.1519 0.2394 0.1949 0.2012 0.32 0.46 0.24 0.29 0.21 rs584845 COSM3752586;COSM3752585 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2299 0.4680 0.1610 0.2386 0.2313 0.1521 0.2423 0.2134 0.1985 0.2844 0.4704 0.1826 0.2483 0.2239 0.1518 0.2244 0.2178 het 1323.03 105 11 62496519 . T C 1323.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.485;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.51;MQ0=0;MQRankSum=-0.710;QD=12.60;ReadPosRankSum=-0.466;VQSLOD=6.6094;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,49:105:99:1353,0,1551 11 62505764 62505764 C T exonic TTC9C synonymous SNV TTC9C:NM_173810:exon3:c.C426T:p.A142A,TTC9C:NM_001318812:exon4:c.C426T:p.A142A,TTC9C:NM_001318813:exon4:c.C426T:p.A142A,TTC9C:NM_001318815:exon4:c.C174T:p.A58A,TTC9C:NM_001318816:exon4:c.C174T:p.A58A,TTC9C:NM_001318814:exon5:c.C174T:p.A58A 0.14 0.097 0.15 0.085 0.19 0.18 0.1941 0.1336 0.1452 0.0914 0.1428 0.2336 0.1590 0.1823 0.19 0.12 0.22 0.12 0.17 rs6675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1736 0.1135 0.1348 0.1579 0.0829 0.1284 0.2211 0.1710 0.1624 0.1652 0.1181 0.1603 0.1733 0.0951 0.1347 0.2072 0.1677 het 623.31 55 11 62505764 . C T 623.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.146;DP=55;Dels=0.00;FS=10.173;HRun=0;HaplotypeScore=0.7340;MQ=58.86;MQ0=0;MQRankSum=0.043;QD=11.33;ReadPosRankSum=-0.421;VQSLOD=4.8689;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,22:55:99:653,0,863 11 62521475 62521475 T C exonic ZBTB3 synonymous SNV ZBTB3:NM_024784:exon1:c.A60G:p.R20R 0.14 0.097 0.16 0.085 0.19 0.18 0.1791 0.1185 0.1363 0.0853 0.1310 0.2164 0.1465 0.1666 0.19 0.12 0.22 0.14 0.17 rs72929471 COSM3752587 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1756 0.1151 0.1364 0.1591 0.0838 0.1304 0.2237 0.1717 0.1641 0.1652 0.1178 0.1603 0.18 0.0934 0.1350 0.2074 0.1667 het 2232.21 201 11 62521475 . T C 2232.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.271;DP=201;Dels=0.00;FS=4.212;HRun=1;HaplotypeScore=9.7741;MQ=58.14;MQ0=0;MQRankSum=-0.154;QD=11.11;ReadPosRankSum=0.522;VQSLOD=3.5122;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,94:201:99:2262,0,2700 11 62564009 62564009 T C exonic NXF1 synonymous SNV NXF1:NM_006362:exon14:c.A1209G:p.R403R 0.51 0.53 0.42 0.55 0.62 0.38 0.5507 0.5520 0.3262 0.5342 0.5700 0.6317 0.5475 0.3807 0.61 0.55 0.64 0.43 0.4 rs4693 COSM5619173 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5437 0.5486 0.3433 0.6913 0.5426 0.5655 0.6301 0.5649 0.3802 0.5795 0.5555 0.3998 0.7252 0.5405 0.5588 0.6101 0.5739 het 1475.13 100 11 62564009 . T C 1475.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.425;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.6000;MQ=58.29;MQ0=0;MQRankSum=0.271;QD=14.75;ReadPosRankSum=0.727;VQSLOD=4.2188;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,54:100:99:1505,0,1177 11 62766431 62766431 A T exonic SLC22A8 synonymous SNV SLC22A8:NM_001184736:exon4:c.T354A:p.T118T,SLC22A8:NM_001184732:exon5:c.T723A:p.T241T,SLC22A8:NM_001184733:exon5:c.T450A:p.T150T,SLC22A8:NM_004254:exon5:c.T723A:p.T241T 0.19 0.037 0.35 0.27 0.18 0.19 0.1835 0.0632 0.3492 0.2510 0.1345 0.1637 0.1781 0.2084 0.13 0.062 0.17 0.14 0.19 rs2276299 COSM3752590 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1926 0.0603 0.3453 0.2185 0.2447 0.1349 0.1629 0.1946 0.2032 0.1409 0.0580 0.3305 0.2185 0.2525 0.1377 0.1652 0.1510 het 1847.48 142 11 62766431 . A T 1847.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.905;DP=142;Dels=0.00;FS=2.143;HRun=0;HaplotypeScore=5.9933;MQ=58.79;MQ0=0;MQRankSum=0.138;QD=13.01;ReadPosRankSum=-0.068;VQSLOD=5.2450;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,70:142:99:1877,0,1947 11 62931484 62931484 T C exonic SLC22A25 nonsynonymous SNV SLC22A25:NM_199352:exon9:c.A1456G:p.M486V 0.54 0.64 0.5 0.53 0.45 0.55 0.4811 0.6172 0.4946 0.5778 0.3653 0.4399 0.4172 0.5520 0.5 0.62 0.44 0.43 0.42 rs6591771 COSM3752591 1(large_intestine) . . . . . . . . . . . 0.606 0.055 T 0.001 0.067 B 0.002 0.063 B 0.465 0.123 N 1.000 0.186 P -1.265 0.007 N 0.53 0.551 T -0.62 0.183 N 0.028 0.009 -1.030 0.206 T 0.000 0.000 T . . . -4.031 0.000 0.001 0.271 0.013 0.002 0.011 N c -2.663 -2.677 1.000 0.480 0.487 0.133 0 -9.12 0.006 -2.794 0.008 -2.468 0.003 0.000 0.063 0.000 0.016 3.357 0.067 Major facilitator superfamily domain ENSG00000196600.8|ENSG00000184999.7|ENSG00000184999.7 Esophagus_Mucosa|Esophagus_Muscularis|Liver 0.4779 0.6219 0.5007 0.5640 0.5777 0.3641 0.4325 0.4545 0.5486 0.4817 0.6129 0.4928 0.5563 0.5855 0.3634 0.4214 0.4613 het 3971.35 246 11 62931484 . T C 3971.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.788;DP=246;Dels=0.00;FS=3.601;HRun=0;HaplotypeScore=1.8318;MQ=59.14;MQ0=0;MQRankSum=0.852;QD=16.14;ReadPosRankSum=0.553;VQSLOD=6.1935;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,135:246:99:3377,0,2784 11 62951221 62951221 C G exonic SLC22A25 nonsynonymous SNV SLC22A25:NM_199352:exon5:c.G899C:p.R300T 0.42 0.26 0.44 0.53 0.39 0.53 0.4066 0.2827 0.4597 0.5745 0.3290 0.3761 0.3689 0.5165 0.35 0.3 0.38 0.3 0.3 rs11231397 COSM5654192 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.024 0.477 D 0.984 0.670 D 0.925 0.663 D 0.060 0.223 N 0.007 0.419 P 3.255 0.901 M 0.27 0.592 T -4.3 0.765 D 0.09 0.455 -0.931 0.440 T 0.000 0.000 T . . . 3.807 0.514 23.4 0.804 0.127 0.016 0.052 N c -0.377 -0.708 0.000 0.066 0.487 0.133 0 -3.87 0.039 -0.487 0.065 -0.088 0.118 0.001 0.137 0.177 0.212 3.297 0.065 Major facilitator superfamily domain ENSG00000196600.8|ENSG00000184999.7 Esophagus_Mucosa|Esophagus_Muscularis 0.4112 0.2849 0.4609 0.5386 0.5747 0.3270 0.3660 0.3934 0.5153 0.3508 0.2826 0.4523 0.5233 0.5813 0.3219 0.3607 0.3951 het 2181.02 154 11 62951221 . C G 2181.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.279;DP=154;DS;Dels=0.00;FS=5.459;HRun=0;HaplotypeScore=1.8633;MQ=58.29;MQ0=0;MQRankSum=0.150;QD=14.16;ReadPosRankSum=-1.418;VQSLOD=4.1036;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,78:154:99:2211,0,2041 11 62984868 62984868 T C exonic SLC22A25 nonsynonymous SNV SLC22A25:NM_199352:exon4:c.A748G:p.S250G 0.43 0.29 0.45 0.53 0.4 0.53 0.4099 0.3022 0.4626 0.5761 0.3304 0.3778 0.3775 0.5184 0.36 0.32 0.38 0.33 0.29 rs11231409 COSM3998528 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.002 0.063 B 0.662 0.104 N 1 0.090 P -2.24 0.001 N 0.44 0.566 T 3.81 0.001 N 0.059 0.369 -0.927 0.446 T 0.000 0.000 T . . . -2.167 0.006 0.001 0.527 0.047 0.001 0.004 N c -1.765 -1.653 0.000 0.046 0.487 0.133 0 0.346 0.152 0.316 0.191 -0.031 0.126 0.005 0.169 0.006 0.095 6.921 0.234 Major facilitator superfamily domain ENSG00000196600.8 Esophagus_Mucosa 0.4139 0.3054 0.4636 0.5380 0.5757 0.3277 0.3676 0.3990 0.5167 0.3579 0.3046 0.4606 0.5298 0.5887 0.3226 0.3608 0.3959 het 1135.64 95 11 62984868 . T C 1135.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.145;DP=95;Dels=0.00;FS=3.876;HRun=1;HaplotypeScore=1.8625;MQ=59.51;MQ0=0;MQRankSum=1.989;QD=11.95;ReadPosRankSum=-0.087;VQSLOD=5.9609;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,42:95:99:1166,0,1522 11 63057925 63057925 G A exonic SLC22A10 stopgain SLC22A10:NM_001039752:exon1:c.G288A:p.W96X 0.43 0.27 0.51 0.47 0.55 0.45 0.5158 0.2945 0.5158 0.4220 0.6038 0.5686 0.5815 0.4518 0.48 0.3 0.57 0.51 0.57 rs1790218 . . . . . . . . . . . . . . . . . . . . . . 0.000 0.497 U 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 8.249 0.958 35 0.994 0.608 0.592 0.306 D c 0.508 0.266 0.332 0.195 0.487 0.133 0 2.89 0.326 4.219 0.581 0.873 0.381 1.000 0.715 0.979 0.486 7.409 0.260 . ENSG00000196600.8|ENSG00000184999.7|ENSG00000184999.7 Esophagus_Mucosa|Esophagus_Muscularis|Liver 0.5180 0.2883 0.5059 0.4409 0.4191 0.6053 0.5752 0.5385 0.4522 0.4891 0.2851 0.5084 0.43 0.4057 0.6097 0.5851 0.5410 het 1387.10 144 11 63057925 . G A 1387.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.145;DP=144;Dels=0.00;FS=3.057;HRun=0;HaplotypeScore=3.9679;MQ=58.83;MQ0=0;MQRankSum=1.027;QD=9.63;ReadPosRankSum=-0.957;VQSLOD=5.5136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,61:144:99:1417,0,2175 11 63064823 63064823 T C exonic SLC22A10 synonymous SNV SLC22A10:NM_001039752:exon3:c.T555C:p.I185I 0.56 0.66 0.57 0.47 0.61 0.47 0.5853 0.6425 0.5455 0.4241 0.6289 0.6254 0.6256 0.4807 0.64 0.65 0.63 0.66 0.66 rs576641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5808 0.6412 0.5413 0.4685 0.4207 0.6298 0.6357 0.5959 0.4824 0.6232 0.6395 0.5442 0.4603 0.4078 0.6371 0.6428 0.5994 het 2755.66 197 11 63064823 . T C 2755.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.055;DP=197;Dels=0.00;FS=5.095;HRun=0;HaplotypeScore=5.5745;MQ=58.67;MQ0=0;MQRankSum=-1.500;QD=13.99;ReadPosRankSum=-0.564;VQSLOD=3.4246;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,108:197:99:2786,0,2268 11 63072310 63072310 C T exonic SLC22A10 nonsynonymous SNV SLC22A10:NM_001039752:exon9:c.C1547T:p.P516L 0.44 0.28 0.5 0.47 0.56 0.45 0.5190 0.3034 0.5171 0.4239 0.6039 0.5706 0.5867 0.4516 0.48 0.29 0.57 0.51 0.57 rs1201559 COSM5000659 1(pancreas) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D 0.000 0.843 U 0.282 0.588 P 3.845 0.958 H -1.25 0.791 T -8.79 0.978 D 0.218 0.267 -0.947 0.415 T 0.000 0.000 T . . . 5.101 0.688 25.3 0.997 0.789 0.770 0.375 D c 0.471 0.220 0.001 0.084 0.487 0.133 0 2.73 0.311 3.823 0.552 0.872 0.381 0.782 0.293 0.041 0.157 11.365 0.487 Major facilitator superfamily domain ENSG00000196600.8|ENSG00000184999.7|ENSG00000184999.7 Esophagus_Mucosa|Esophagus_Muscularis|Liver 0.5205 0.2977 0.5076 0.4414 0.4208 0.6056 0.5777 0.5434 0.4534 0.4933 0.2946 0.5095 0.4272 0.4081 0.6097 0.5882 0.5419 het 1732.67 187 11 63072310 . C T 1732.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.357;DP=187;Dels=0.00;FS=0.563;HRun=0;HaplotypeScore=4.3697;MQ=58.49;MQ0=0;MQRankSum=0.388;QD=9.27;ReadPosRankSum=-0.637;VQSLOD=5.5641;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:117,69:187:99:1763,0,3204 11 63258416 63258416 T C exonic HRASLS5 nonsynonymous SNV HRASLS5:NM_001146728:exon1:c.A91G:p.S31G,HRASLS5:NM_001146729:exon1:c.A91G:p.S31G,HRASLS5:NM_054108:exon1:c.A91G:p.S31G 0.98 0.94 0.99 1. 1. 1. 0.9959 0.9528 0.9980 1 1 0.9998 1 1 0.98 0.95 1. 0.87 0.52 rs10897424 . . . . . . . . . . . . . 0.785 0.032 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.255 0.098 N 1.33 0.350 T 0.23 0.068 N 0.053 0.077 -1.055 0.131 T 0.000 0.000 T . . . -1.584 0.015 0.002 0.297 0.016 0.005 0.024 N c -1.987 -2.092 1.000 0.500 0.447 0.083 0 -5.14 0.026 -1.418 0.025 -1.896 0.006 0.000 0.063 0.000 0.016 5.772 0.174 . . . 0.9968 0.9513 0.9975 0.9998 1 1 0.9998 0.9976 0.9998 0.9865 0.9534 0.9952 1 1 1 0.9998 0.9969 hom 206.59 10 11 63258416 . T C 206.59 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=57.66;MQ0=0;QD=20.66;VQSLOD=5.3478;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:21.04:240,21,0 11 63313644 63313644 T C exonic RARRES3 synonymous SNV RARRES3:NM_004585:exon4:c.T411C:p.V137V 1. 1. 1. 1. 1. 1. 1.0000 0.9999 0.9997 1 1 1 1 1 1. 1. 1. 1. 0.98 rs584905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9999 0.9996 1 1 1 1.0000 1 1.0000 1.0000 0.9999 1 1 1 1 1 1 hom 7479.17 249 11 63313644 . T C 7479.17 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9891;MQ=59.40;MQ0=0;QD=30.04;VQSLOD=4.9562;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:249:99:7440,638,0 11 63487386 63487386 T C exonic RTN3 nonsynonymous SNV RTN3:NM_001265590:exon2:c.T1076C:p.V359A,RTN3:NM_201428:exon2:c.T1355C:p.V452A,RTN3:NM_001265589:exon3:c.T1412C:p.V471A 0.74 0.42 0.88 0.99 0.81 0.73 0.7936 0.4639 0.9081 0.9886 0.8916 0.8064 0.8106 0.7266 0.69 0.48 0.8 0.7 0.82 rs542998 . . . . . . . . . . . . . 0.555 0.065 T 0.004 0.112 B 0.006 0.112 B 0.146 0.029 N 1 0.270 P 0.83 0.210 L 2.36 0.161 T -0.85 0.260 N 0.006 0.004 -1.012 0.264 T 0.000 0.000 T . . . -1.914 0.009 0.001 0.530 0.048 0.046 0.101 N c -1.335 -1.339 0.841 0.248 0.161 0.028 2 -2.94 0.052 -0.073 0.113 -0.247 0.091 0.025 0.199 0.022 0.137 2.654 0.047 . ENSG00000133318.9|ENSG00000184743.8|ENSG00000133318.9 Artery_Aorta|Cells_Transformed_fibroblasts|Whole_Blood 0.8069 0.4561 0.9010 0.7654 0.9879 0.8970 0.8064 0.8109 0.7265 0.7375 0.4626 0.8986 0.7550 0.9858 0.8995 0.8177 0.8163 hom 3375.93 108 11 63487386 . T C 3375.93 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=31.26;VQSLOD=9.4498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3375,262,0 11 63681513 63681513 T C exonic RCOR2 synonymous SNV RCOR2:NM_173587:exon8:c.A804G:p.E268E 0.98 0.92 0.99 1. 1. 1. 0.9931 0.9273 0.9966 1 1 0.9996 0.9956 0.9998 0.98 0.93 1. 0.98 0.98 rs10897461 COSM4146042 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9252 0.9957 0.9996 1 1 0.9996 0.9949 0.9997 0.9791 0.9279 0.9928 1 1 1 0.9995 0.9949 hom 6108.12 179 11 63681513 . T C 6108.12 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.1242;MQ=59.12;MQ0=0;QD=34.12;VQSLOD=5.7842;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:6107,487,0 11 63713317 63713317 G A exonic NAA40 synonymous SNV NAA40:NM_024771:exon2:c.G12A:p.K4K 0.17 0.019 0.15 0.057 0.39 0.28 0.3089 0.0741 0.1323 0.0389 0.4058 0.3954 0.3554 0.3316 0.29 0.082 0.4 0.098 0.41 rs3740637 COSM3752594 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3096 0.0667 0.1518 0.4470 0.0371 0.4167 0.3908 0.3315 0.3355 0.2810 0.0744 0.1921 0.4536 0.0316 0.4220 0.3936 0.3333 het 1743.52 139 11 63713317 . G A 1743.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.398;DP=139;Dels=0.00;FS=0.650;HRun=3;HaplotypeScore=6.4906;MQ=58.17;MQ0=0;MQRankSum=-0.377;QD=12.54;ReadPosRankSum=-2.312;VQSLOD=4.0137;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,67:139:99:1774,0,1838 11 63767186 63767186 A G exonic MACROD1 synonymous SNV MACROD1:NM_014067:exon6:c.T714C:p.S238S 0.43 0.74 0.25 0.14 0.45 0.42 0.4204 0.7169 0.1772 0.1322 0.4354 0.4487 0.4518 0.4685 0.53 0.69 0.45 0.18 0.39 rs709594 COSM3749173 1(thyroid);7(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4007 0.7147 0.1992 0.5142 0.1297 0.4268 0.4361 0.4052 0.4634 0.4942 0.7095 0.2530 0.5235 0.1095 0.4388 0.4422 0.4072 het 119.19 16 11 63767186 . A G 119.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.059;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.340;QD=7.45;ReadPosRankSum=1.813;VQSLOD=5.0761;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,5:16:99:149,0,309 11 63883985 63883985 T C exonic FLRT1 synonymous SNV FLRT1:NM_013280:exon2:c.T246C:p.D82D 0.53 0.2 0.67 0.42 0.85 0.64 0.7273 0.2988 0.5934 0.4216 0.8443 0.8545 0.7765 0.6856 0.68 0.32 0.86 0.51 0.85 rs614397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7306 0.2909 0.5997 0.7916 0.4169 0.8496 0.8599 0.7639 0.6875 0.6721 0.2962 0.6360 0.8079 0.4152 0.8442 0.8690 0.8 hom 4197.47 141 11 63883985 . T C 4197.47 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4640;MQ=59.31;MQ0=0;QD=29.77;VQSLOD=8.4166;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4196,349,0 11 63884027 63884027 C T exonic FLRT1 synonymous SNV FLRT1:NM_013280:exon2:c.C288T:p.A96A 0.41 0.15 0.55 0.33 0.7 0.44 0.5801 0.2241 0.4953 0.3265 0.7181 0.6882 0.6214 0.5016 0.53 0.23 0.68 0.36 0.75 rs614035 COSM3765576 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5860 0.2173 0.5010 0.7091 0.3209 0.7175 0.6856 0.6295 0.5069 0.5435 0.2276 0.5419 0.7318 0.3203 0.7208 0.6993 0.6524 hom 4307.73 135 11 63884027 . C T 4307.73 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3004;MQ=59.45;MQ0=0;QD=31.91;VQSLOD=9.1731;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4307,343,0 11 63885305 63885305 C T exonic FLRT1 synonymous SNV FLRT1:NM_013280:exon2:c.C1566T:p.P522P 0.15 0.067 0.31 0.18 0.17 0.072 0.1699 0.0872 0.3035 0.2008 0.1785 0.1727 0.1858 0.0968 0.14 0.088 0.17 0.15 0.2 rs3824854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1777 0.0866 0.2995 0.1754 0.2001 0.1754 0.1722 0.1926 0.0973 0.1566 0.0881 0.2900 0.1523 0.2108 0.1779 0.1763 0.1888 het 783.03 82 11 63885305 . C T 783.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.168;DP=82;Dels=0.00;FS=1.890;HRun=0;HaplotypeScore=1.7753;MQ=60.00;MQ0=0;MQRankSum=-0.028;QD=9.55;ReadPosRankSum=0.567;VQSLOD=6.3186;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,33:82:99:813,0,1373 11 63885632 63885632 A G exonic FLRT1 synonymous SNV FLRT1:NM_013280:exon2:c.A1893G:p.E631E 0.95 0.83 0.99 1. 1. 1. 0.9867 0.8517 0.9953 1 1 0.9999 0.9922 0.9998 0.95 0.86 1. 0.95 1. rs4379854 COSM4146045 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9894 0.8477 0.9934 1 0.9999 1 0.9999 0.9938 0.9998 0.9576 0.8506 0.9905 1 1 1 0.9999 0.9980 hom 5063.18 158 11 63885632 . A G 5063.18 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6828;MQ=59.35;MQ0=0;QD=32.05;VQSLOD=9.8693;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5063,388,0 11 63885704 63885704 C T exonic FLRT1 synonymous SNV FLRT1:NM_013280:exon2:c.C1965T:p.Y655Y 0.4 0.13 0.53 0.33 0.7 0.43 0.5815 0.2151 0.4924 0.3275 0.7172 0.6885 0.6188 0.5128 0.53 0.22 0.68 0.36 0.74 rs677447 COSM3765577 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5836 0.2051 0.4976 0.7056 0.3212 0.7171 0.6848 0.6240 0.5067 0.5395 0.2172 0.5383 0.7285 0.3206 0.7203 0.6981 0.6452 hom 3211.51 101 11 63885704 . C T 3211.51 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.80;VQSLOD=14.1860;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3245,262,0 11 63988102 63988102 C T exonic FERMT3 synonymous SNV FERMT3:NM_031471:exon12:c.C1506T:p.L502L,FERMT3:NM_178443:exon12:c.C1518T:p.L506L 0.16 0.13 0.33 0.18 0.17 0.074 0.1899 0.1617 0.3206 0.1971 0.2028 0.1894 0.2060 0.1058 0.16 0.14 0.17 0.16 0.18 rs3802933 COSM3931384;COSM3931385 1(urinary_tract) Benign not_specified RCV000454692.1 MedGen CN169374 . . . . . . 0.007 0.599 D . . . . . . . . . 0.000 0.588 P . . . 0.12 0.611 T -1.06 0.277 N . . -1.070 0.094 T 0.000 0.000 T . . . 1.212 0.211 11.81 0.901 0.188 0.041 0.095 N c -1.382 -1.607 1.000 0.747 0.672 0.522 0 -8.43 0.008 -1.383 0.026 -1.161 0.017 0.004 0.165 0.656 0.300 3.287 0.065 . ENSG00000257086.1|ENSG00000219435.3|ENSG00000257086.1|ENSG00000126432.9|ENSG00000257086.1|ENSG00000219435.3|ENSG00000257086.1|ENSG00000257086.1|ENSG00000173486.8|ENSG00000219435.3|ENSG00000149782.7|ENSG00000173486.8|ENSG00000149743.9|ENSG00000173486.8|ENSG00000149743.9|ENSG00000173486.8|ENSG00000149743.9|ENSG00000173457.6|ENSG00000149743.9|ENSG00000173457.6|ENSG00000149743.9|ENSG00000173457.6|ENSG00000257069.1|ENSG00000219435.3|ENSG00000219435.3|ENSG00000126432.9 Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Testis|Testis|Thyroid|Whole_Blood 0.1786 0.1353 0.3029 0.1788 0.1854 0.1685 0.1691 0.1982 0.0969 0.1685 0.1383 0.2995 0.1556 0.1901 0.1740 0.1740 0.1895 het 257.18 30 11 63988102 . C T 257.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.900;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=58.75;MQ0=0;MQRankSum=0.275;QD=8.57;ReadPosRankSum=-0.445;VQSLOD=6.2084;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,12:30:99:287,0,463 11 63991581 63991581 G A exonic TRPT1 nonsynonymous SNV TRPT1:NM_001160393:exon6:c.C664T:p.R222C,TRPT1:NM_031472:exon6:c.C514T:p.R172C,TRPT1:NM_001033678:exon7:c.C661T:p.R221C,TRPT1:NM_001160389:exon7:c.C667T:p.R223C,TRPT1:NM_001160390:exon7:c.C661T:p.R221C 0.021 0.003 0.048 . 0.065 0.0031 0.0506 0.0148 0.0418 0.0020 0.0700 0.0704 0.0612 0.0136 0.053 0.015 0.073 0.011 0.14 rs11549690 . . . . . . . . . . . . . 0.056 0.457 T 0.046 0.232 B 0.026 0.195 B 0.351 0.138 N 0.974 0.257 N 1.295 0.326 L 1.46 0.340 T -3.44 0.674 D 0.083 0.471 -1.084 0.067 T 0.009 0.030 T . . . 2.266 0.333 17.94 0.941 0.237 0.728 0.353 D c -0.481 -0.512 1.000 0.747 0.672 0.522 0 1.97 0.252 2.037 0.406 0.076 0.183 0.155 0.235 0.249 0.227 8.363 0.314 . ENSG00000149743.9|ENSG00000173486.8|ENSG00000149782.7|ENSG00000149743.9|ENSG00000149743.9|ENSG00000149743.9|ENSG00000257069.1 Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Testis 0.0509 0.0128 0.0445 0.0741 0.0002 0.0671 0.0705 0.0599 0.0140 0.0523 0.0146 0.0453 0.0728 0 0.0650 0.0757 0.0707 het 1148.45 104 11 63991581 . G A 1148.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.409;DP=104;Dels=0.00;FS=0.750;HRun=0;HaplotypeScore=2.5998;MQ=59.78;MQ0=0;MQRankSum=-1.757;QD=11.04;ReadPosRankSum=-0.880;VQSLOD=5.4725;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,46:104:99:1178,0,1525 11 63991801 63991801 T C exonic TRPT1 nonsynonymous SNV TRPT1:NM_001160393:exon5:c.A515G:p.H172R,TRPT1:NM_001330298:exon5:c.A368G:p.H123R,TRPT1:NM_031472:exon5:c.A368G:p.H123R,TRPT1:NM_001033678:exon6:c.A515G:p.H172R,TRPT1:NM_001160389:exon6:c.A521G:p.H174R,TRPT1:NM_001160390:exon6:c.A515G:p.H172R,TRPT1:NM_001160392:exon6:c.A515G:p.H172R 0.15 0.091 0.32 0.18 0.17 0.074 0.1698 0.1049 0.3084 0.1882 0.1735 0.1707 0.1885 0.0975 0.15 0.11 0.17 0.14 0.2 rs1059440 COSM3998532;COSM3998531 2(haematopoietic_and_lymphoid_tissue);4(soft_tissue) . . . . . . . . . . . 0.009 0.574 D 0.007 0.243 B 0.004 0.234 B 0.002 0.370 N 1.000 0.192 P 1.01 0.254 L 1.06 0.398 T -0.96 0.262 N 0.028 0.318 -0.989 0.328 T 0.000 0.000 T . . . 2.047 0.307 16.51 0.896 0.184 0.920 0.546 D c -0.553 -0.440 1.000 0.747 0.722 0.854 0 2.59 0.300 4.075 0.571 1.061 0.807 0.990 0.367 0.500 0.271 6.109 0.192 . ENSG00000257086.1|ENSG00000219435.3|ENSG00000257086.1|ENSG00000126432.9|ENSG00000257086.1|ENSG00000219435.3|ENSG00000257086.1|ENSG00000219435.3|ENSG00000257086.1|ENSG00000257086.1|ENSG00000173486.8|ENSG00000219435.3|ENSG00000149782.7|ENSG00000173486.8|ENSG00000149743.9|ENSG00000173486.8|ENSG00000149743.9|ENSG00000173486.8|ENSG00000149743.9|ENSG00000173457.6|ENSG00000149743.9|ENSG00000173457.6|ENSG00000149743.9|ENSG00000257086.1|ENSG00000173457.6|ENSG00000257069.1|ENSG00000219435.3|ENSG00000219435.3|ENSG00000126432.9|ENSG00000236935.1 Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood 0.1778 0.1024 0.3050 0.1806 0.1873 0.1701 0.1708 0.1967 0.0979 0.1579 0.1008 0.3007 0.1556 0.1915 0.1731 0.1740 0.1881 het 1539.34 155 11 63991801 . T C 1539.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.021;DP=155;Dels=0.00;FS=0.628;HRun=0;HaplotypeScore=3.8076;MQ=59.24;MQ0=0;MQRankSum=-0.544;QD=9.93;ReadPosRankSum=0.327;VQSLOD=6.0521;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,66:155:99:1569,0,2259 11 63997329 63997329 A G exonic NUDT22 nonsynonymous SNV NUDT22:NM_001128613:exon5:c.A680G:p.Q227R,NUDT22:NM_001271831:exon5:c.A680G:p.Q227R,NUDT22:NM_001128612:exon6:c.A779G:p.Q260R,NUDT22:NM_032344:exon6:c.A779G:p.Q260R 0.94 0.81 0.98 0.99 1. 0.99 0.9792 0.8318 0.9929 0.9781 0.9977 0.9957 0.9878 0.9880 0.94 0.84 1. 0.92 0.95 rs633561 . . . . . . . . . . . . . 0.975 0.034 T 0.0 0.026 B 0.001 0.040 B 0.831 0.091 N 1 0.090 P -1.385 0.006 N 2.34 0.164 T 0.44 0.033 N 0.075 0.065 -0.987 0.334 T 0.000 0.000 T . . . 0.689 0.160 8.758 0.677 0.082 0.021 0.062 N c -1.848 -1.944 1.000 0.747 0.543 0.218 0 -8.76 0.007 -1.587 0.022 -1.176 0.016 0.000 0.063 0.007 0.100 4.880 0.129 NUDIX hydrolase domain . . 0.9829 0.8298 0.9912 0.9986 0.9789 0.9968 0.9960 0.9879 0.9884 0.9500 0.8378 0.9845 0.9967 0.9734 0.9954 0.9966 0.9918 hom 2230.74 72 11 63997329 . A G 2230.74 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=57.91;MQ0=0;QD=30.98;VQSLOD=8.4117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2264,189,0 11 63997338 63997338 T C exonic NUDT22 nonsynonymous SNV NUDT22:NM_001128613:exon5:c.T689C:p.L230P,NUDT22:NM_001271831:exon5:c.T689C:p.L230P,NUDT22:NM_001128612:exon6:c.T788C:p.L263P,NUDT22:NM_032344:exon6:c.T788C:p.L263P 0.95 0.83 0.98 1. 1. 1. 0.9868 0.8529 0.9954 1 1 0.9999 0.9922 0.9999 0.95 0.86 1. 0.96 0.96 rs633557 . . . . . . . . . . . . . 0.275 0.165 T 0.0 0.026 B 0.001 0.040 B 0.088 0.205 N 0.551 0.313 P 0 0.065 N 2.28 0.173 T 1.21 0.011 N 0.224 0.276 -1.065 0.107 T 0.000 0.000 T . . . 1.191 0.209 11.70 0.967 0.304 0.595 0.307 D c -0.993 -0.836 1.000 0.458 0.543 0.218 0 1.24 0.203 1.264 0.324 -0.112 0.115 1.000 0.715 0.166 0.209 2.250 0.038 NUDIX hydrolase domain . . 0.9897 0.8510 0.9937 1 0.9999 1 0.9998 0.9940 0.9998 0.9589 0.8552 0.9916 1 1 1 0.9999 0.9969 hom 2365.36 75 11 63997338 . T C 2365.36 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=57.68;MQ0=0;QD=31.54;VQSLOD=7.2825;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2398,184,0 11 64009879 64009879 G A exonic FKBP2 nonsynonymous SNV FKBP2:NM_001135208:exon2:c.G20A:p.R7Q,FKBP2:NM_004470:exon2:c.G20A:p.R7Q,FKBP2:NM_057092:exon2:c.G20A:p.R7Q 0.025 0.0038 0.053 . 0.074 0.0092 0.0569 0.0157 0.0485 0.0019 0.0721 0.0769 0.0671 0.0223 0.058 0.017 0.08 0.022 0.13 rs4672 . . . . . . . . . . . . . 0.304 0.146 T 0.0 0.026 B 0.0 0.013 B 0.443 0.126 N 1.000 0.206 N 0 0.065 N 1.27 0.363 T 0.12 0.056 N 0.05 0.059 -1.047 0.152 T 0.003 0.009 T . . . 2.627 0.377 20.4 0.987 0.446 0.402 0.262 N c -0.789 -0.634 1.000 0.747 0.442 0.072 0 2.3 0.276 -1.633 0.021 -1.391 0.012 0.984 0.356 0.971 0.463 5.793 0.175 . ENSG00000219435.3|ENSG00000149743.9|ENSG00000173486.8|ENSG00000149782.7|ENSG00000149743.9|ENSG00000149743.9|ENSG00000149743.9|ENSG00000257069.1|ENSG00000162302.8 Brain_Cortex|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Testis|Whole_Blood 0.0526 0.0134 0.0401 0.0601 0.0003 0.0661 0.0725 0.0545 0.0169 0.0554 0.0161 0.0513 0.0728 0 0.0673 0.0804 0.0717 het 1270.70 90 11 64009879 . G A 1270.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.067;DP=90;Dels=0.00;FS=2.843;HRun=0;HaplotypeScore=5.9836;MQ=59.26;MQ0=0;MQRankSum=-0.570;QD=14.12;ReadPosRankSum=0.206;VQSLOD=4.9313;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,48:90:99:1301,0,969 11 64011441 64011441 T C exonic FKBP2 synonymous SNV FKBP2:NM_001135208:exon6:c.T369C:p.G123G,FKBP2:NM_004470:exon6:c.T369C:p.G123G,FKBP2:NM_057092:exon6:c.T369C:p.G123G 0.98 0.92 0.99 1. 1. 1. 0.9943 0.9365 0.9978 0.9997 1 1.0000 0.9956 0.9999 0.98 0.94 1. 0.98 1. rs654573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9953 0.9326 0.9971 1 0.9999 1 1.0000 0.9967 0.9999 0.9823 0.9384 0.9940 1 1 1 0.9999 0.9990 hom 6014.40 208 11 64011441 . T C 6014.40 Mask AC=2;AF=1.00;AN=2;DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4747;MQ=58.64;MQ0=0;QD=28.92;VQSLOD=6.6817;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,208:208:99:6013,487,0 11 64022459 64022459 A G exonic PLCB3 synonymous SNV PLCB3:NM_001184883:exon2:c.A135G:p.P45P,PLCB3:NM_000932:exon4:c.A336G:p.P112P,PLCB3:NM_001316314:exon4:c.A336G:p.P112P 0.95 0.83 0.99 1. 1. 1. 0.9871 0.8608 0.9960 1 1 0.9999 0.9941 0.9996 0.95 0.86 1. 0.98 0.98 rs632439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9894 0.8570 0.9943 1 0.9999 1 0.9998 0.9939 0.9997 0.9613 0.8641 0.9916 1 1 1 0.9999 0.9969 hom 2079.77 71 11 64022459 . A G 2079.77 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7653;MQ=60.00;MQ0=0;QD=29.29;VQSLOD=8.0109;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2113,169,0 11 64023971 64023971 G A exonic PLCB3 synonymous SNV PLCB3:NM_001184883:exon7:c.G621A:p.L207L,PLCB3:NM_000932:exon9:c.G822A:p.L274L,PLCB3:NM_001316314:exon9:c.G822A:p.L274L 0.17 0.023 0.14 0.13 0.3 0.3 0.2567 0.0593 0.1248 0.1120 0.2629 0.3155 0.2815 0.3079 0.23 0.061 0.32 0.17 0.37 rs7943988 COSM3752599 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2497 0.0546 0.1227 0.2768 0.1075 0.2602 0.3153 0.2615 0.3090 0.2181 0.0591 0.1492 0.2881 0.0988 0.2637 0.3132 0.2556 het 2492.44 222 11 64023971 . G A 2492.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.079;DP=222;DS;Dels=0.00;FS=5.582;HRun=0;HaplotypeScore=2.8650;MQ=58.93;MQ0=0;MQRankSum=-0.153;QD=11.23;ReadPosRankSum=0.362;VQSLOD=5.0919;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,99:222:99:2522,0,3338 11 64026144 64026144 G A exonic PLCB3 synonymous SNV PLCB3:NM_001184883:exon9:c.G1011A:p.S337S,PLCB3:NM_000932:exon11:c.G1212A:p.S404S,PLCB3:NM_001316314:exon11:c.G1212A:p.S404S 0.41 0.16 0.52 0.27 0.67 0.54 0.5813 0.2295 0.4927 0.2614 0.6724 0.6854 0.6150 0.5731 0.53 0.24 0.68 0.34 0.65 rs2244625 COSM4146054 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5827 0.2229 0.4925 0.6636 0.2536 0.6790 0.6854 0.5976 0.5734 0.5259 0.2283 0.5239 0.6788 0.2391 0.6693 0.6880 0.6155 het 2500.11 189 11 64026144 . G A 2500.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.103;DP=189;Dels=0.00;FS=0.561;HRun=0;HaplotypeScore=6.3080;MQ=59.26;MQ0=0;MQRankSum=0.848;QD=13.23;ReadPosRankSum=-2.278;VQSLOD=4.2533;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,98:189:99:2530,0,2278 11 64026685 64026685 C T exonic PLCB3 synonymous SNV PLCB3:NM_001184883:exon11:c.C1293T:p.S431S,PLCB3:NM_000932:exon13:c.C1494T:p.S498S,PLCB3:NM_001316314:exon13:c.C1494T:p.S498S 0.17 0.023 0.15 0.13 0.3 0.3 0.3622 0.1043 0.2164 0.1996 0.4067 0.4203 0.3586 0.3647 0.22 0.056 0.3 0.17 0.14 rs28395882 COSM429525 7(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2545 0.0546 0.1272 0.2764 0.1110 0.2768 0.3286 0.2610 0.3111 0.2207 0.0600 0.1519 0.2881 0.0991 0.2648 0.3171 0.2552 het 207.15 14 11 64026685 . C T 207.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.867;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=1.200;QD=14.80;ReadPosRankSum=0.800;VQSLOD=5.6912;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,9:14:88.93:237,0,89 11 64051823 64051823 C T exonic BAD synonymous SNV BAD:NM_004322:exon1:c.G18A:p.E6E,BAD:NM_032989:exon2:c.G18A:p.E6E 0.0096 0.0015 0.019 . 0.031 0.002 0.0294 0.0085 0.0197 0 0.0603 0.0407 0.0335 0.0068 0.03 0.0086 0.041 0.011 0.11 rs34882006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0294 0.0076 0.0204 0.0192 0 0.0561 0.0411 0.0334 0.0074 0.0350 0.0086 0.0143 0.0199 0 0.0595 0.0493 0.0428 het 1926.32 156 11 64051823 . C T 1926.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.476;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5745;MQ=60.00;MQ0=0;MQRankSum=0.170;QD=12.35;ReadPosRankSum=0.351;VQSLOD=5.9824;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,75:156:99:1956,0,2214 11 64066859 64066859 G A exonic KCNK4 synonymous SNV KCNK4:NM_001317090:exon7:c.G843A:p.T281T,KCNK4:NM_033310:exon7:c.G843A:p.T281T 0.79 0.47 0.95 0.92 0.99 0.77 0.9359 0.6048 0.9788 0.9270 0.9995 0.9972 0.9516 0.8203 0.88 0.65 1. 0.27 0.57 rs2232417 COSM1746430 2(urinary_tract) . . . . . . . . . . . . . . 0.043 0.202 B 0.005 0.104 B . . . 1.000 0.326 P . . . . . . 0.0 0.070 N . . -0.986 0.337 T 0.000 0.000 T . . . 2.059 0.308 16.59 0.950 0.254 0.028 0.074 N c -1.441 -1.578 1.000 0.747 0.765 0.991 0 -9.03 0.006 -1.247 0.030 -0.412 0.061 0.002 0.151 0.994 0.587 2.941 0.054 . . . 0.9407 0.5287 0.9725 0.9900 0.9287 0.9995 0.9974 0.9621 0.8121 0.8595 0.5258 0.9702 0.9801 0.9228 1 0.9976 0.9649 hom 417.75 13 11 64066859 . G A 417.75 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=32.13;VQSLOD=8.9079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:451,36,0 11 64081445 64081445 G A exonic ESRRA synonymous SNV ESRRA:NM_001282450:exon3:c.G348A:p.P116P,ESRRA:NM_001282451:exon3:c.G348A:p.P116P,ESRRA:NM_004451:exon3:c.G348A:p.P116P 0.089 0.024 0.13 0.11 0.16 0.061 0.2257 0.0799 0.2656 0.2225 0.3811 0.2888 0.2188 0.1144 0.12 0.046 0.15 0.065 0.082 rs2276014 COSM5618882 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1310 0.0398 0.1074 0.1239 0.1108 0.1578 0.1621 0.1584 0.0867 0.1208 0.0403 0.1169 0.1060 0.1056 0.1633 0.1563 0.1769 het 129.38 10 11 64081445 . G A 129.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.951;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.676;QD=12.94;ReadPosRankSum=-0.676;VQSLOD=11.7123;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:159,0,138 11 64085785 64085785 A G exonic PRDX5 nonsynonymous SNV PRDX5:NM_012094:exon1:c.A98G:p.Y33C,PRDX5:NM_181651:exon1:c.A98G:p.Y33C,PRDX5:NM_181652:exon1:c.A98G:p.Y33C 0.94 0.78 0.98 1. 1. 1. 0.9832 0.8071 0.9942 1 1 0.9998 0.9940 0.9997 0.94 0.81 1. 0.91 0.76 rs7938623 COSM429533 2(thyroid);2(large_intestine) . . . . . . . . . . . 0.179 0.220 T 0.045 0.204 B 0.017 0.170 B 0.000 0.004 N 1 0.090 P -0.695 0.019 N 0.95 0.491 T 0.55 0.320 N 0.024 0.112 -0.954 0.403 T 0.000 0.000 T . . . -0.615 0.049 0.115 0.674 0.081 0.001 0.007 N c -1.551 -1.623 1.000 0.747 0.442 0.072 0 -3.83 0.040 -0.180 0.097 -1.060 0.020 0.000 0.063 0.000 0.016 1.450 0.022 . . . 0.9864 0.8021 0.9917 1 0.9999 1 0.9997 0.9924 0.9996 0.9450 0.8068 0.9893 1 1 1 0.9997 0.9959 hom 856.70 26 11 64085785 . A G 856.70 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.89;MQ0=0;QD=32.95;VQSLOD=7.5508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:69.22:890,69,0 11 64111928 64111928 T C exonic CCDC88B nonsynonymous SNV CCDC88B:NM_032251:exon14:c.T1915C:p.W639R 0.53 0.38 0.56 0.35 0.68 0.76 0.6460 0.4416 0.5221 0.3626 0.6909 0.7013 0.6422 0.7647 0.61 0.43 0.69 0.52 0.42 rs685870 COSM429538 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 2.05 0.207 T 0.53 0.028 N 0.012 0.001 -0.995 0.313 T 0.000 0.000 T . . . -1.662 0.013 0.002 0.273 0.013 0.002 0.014 N c -1.802 -1.802 1.000 0.416 0.701 0.575 0 -1.31 0.087 -1.016 0.037 -2.094 0.004 0.000 0.063 0.000 0.016 5.154 0.143 . ENSG00000126432.9|ENSG00000173457.6|ENSG00000236935.1|ENSG00000236935.1|ENSG00000168071.17|ENSG00000236935.1|ENSG00000149782.7|ENSG00000126432.9|ENSG00000126432.9|ENSG00000126432.9|ENSG00000126432.9|ENSG00000236935.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.6309 0.4221 0.5062 0.6409 0.3368 0.6904 0.6965 0.6181 0.7537 0.5953 0.4290 0.5394 0.6533 0.3248 0.6800 0.7003 0.6503 het 315.77 28 11 64111928 . T C 315.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.856;DP=28;Dels=0.00;FS=7.832;HRun=2;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=1.290;QD=11.28;ReadPosRankSum=0.645;VQSLOD=4.8276;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:346,0,438 11 64116843 64116843 A C exonic CCDC88B nonsynonymous SNV CCDC88B:NM_032251:exon15:c.A2657C:p.D886A 0.96 0.86 0.99 1. 1. 1. 0.9898 0.8827 0.9964 1 1 0.9999 0.9965 0.9999 0.96 0.88 1. 0.94 0.84 rs1318165 COSM4146062;COSM4146063 1(thyroid) . . . . . . . . . . . 0.531 0.098 T 0.002 0.090 B 0.002 0.063 B . . . 1 0.307 P -1.175 0.009 N 1.99 0.429 T 0.73 0.050 N 0.028 0.031 -0.960 0.392 T 0.000 0.000 T . . . -0.057 0.088 2.068 0.650 0.074 0.007 0.030 N c -1.584 -1.471 1.000 0.517 0.672 0.522 0 0.098 0.137 -0.377 0.075 -1.332 0.013 0.000 0.063 0.194 0.216 10.302 0.426 . . . 0.9916 0.8783 0.9949 1 0.9999 1 0.9998 0.9950 0.9997 0.9663 0.8813 0.9940 1 1 1 0.9999 0.9980 hom 743.11 28 11 64116843 . A C 743.11 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.54;VQSLOD=12.3877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:57.18:776,57,0 11 64360274 64360274 T C exonic SLC22A12 synonymous SNV SLC22A12:NM_001276326:exon2:c.T426C:p.H142H,SLC22A12:NM_001276327:exon2:c.T426C:p.H142H,SLC22A12:NM_144585:exon2:c.T426C:p.H142H 0.39 0.095 0.43 0.22 0.71 0.59 0.5751 0.1842 0.4412 0.2268 0.5789 0.6992 0.6178 0.5922 0.54 0.2 0.71 0.38 0.6 rs11231825 COSM4416773 1(haematopoietic_and_lymphoid_tissue) Benign Familial_renal_hypouricemia RCV000286659.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5745 0.1762 0.4456 0.7107 0.2234 0.5823 0.7010 0.6200 0.5933 0.4994 0.1774 0.4749 0.7483 0.2425 0.5865 0.6823 0.6217 het 2127.62 181 11 64360274 . T C 2127.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.652;DP=181;Dels=0.00;FS=1.161;HRun=0;HaplotypeScore=4.5147;MQ=59.67;MQ0=0;MQRankSum=-0.654;QD=11.75;ReadPosRankSum=-0.436;VQSLOD=5.5845;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,89:181:99:2158,0,2381 11 64367325 64367325 A G exonic SLC22A12 synonymous SNV SLC22A12:NM_001276327:exon5:c.A924G:p.A308A,SLC22A12:NM_001276326:exon7:c.A1146G:p.A382A,SLC22A12:NM_144585:exon7:c.A1248G:p.A416A,SLC22A12:NM_153378:exon7:c.A585G:p.A195A 0.98 0.92 0.99 1. 1. 0.99 0.9929 0.9306 0.9968 1 1 0.9997 1 0.9936 0.98 0.93 1. 0.94 0.95 rs1630320 . . Benign Familial_renal_hypouricemia RCV000313264.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9313 0.9962 1 1 1 0.9998 0.9965 0.9946 0.9800 0.9307 0.9928 1 1 1 0.9998 0.9929 hom 2526.98 74 11 64367325 . A G 2526.98 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.1346;MQ=58.55;MQ0=0;QD=34.15;VQSLOD=8.4706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2560,208,0 11 64367862 64367862 T C exonic SLC22A12 synonymous SNV SLC22A12:NM_001276327:exon6:c.T985C:p.L329L,SLC22A12:NM_001276326:exon8:c.T1207C:p.L403L,SLC22A12:NM_144585:exon8:c.T1309C:p.L437L,SLC22A12:NM_153378:exon8:c.T646C:p.L216L 0.4 0.67 0.26 0.51 0.2 0.21 0.3033 0.6409 0.2929 0.4912 0.3683 0.2314 0.2954 0.2449 0.32 0.58 0.19 0.43 0.082 rs7932775 COSM1746440 1(breast);1(urinary_tract);1(large_intestine) Benign Familial_renal_hypouricemia RCV000300784.1 MedGen:OMIM:SNOMED_CT C0473219:220150:236478009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2587 0.6200 0.2405 0.1730 0.4766 0.2858 0.1987 0.2457 0.2086 0.3478 0.6213 0.2351 0.1325 0.4511 0.2815 0.2105 0.2413 het 216.56 13 11 64367862 . T C 216.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.386;DP=13;Dels=0.00;FS=2.158;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.466;QD=16.66;ReadPosRankSum=0.077;VQSLOD=5.7536;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,9:13:91.83:247,0,92 11 64415767 64415767 G A exonic NRXN2 synonymous SNV NRXN2:NM_138732:exon15:c.C3207T:p.G1069G,NRXN2:NM_015080:exon17:c.C3327T:p.G1109G 0.11 0.0076 0.092 0.19 0.15 0.14 0.1366 0.0290 0.0948 0.1848 0.2328 0.1469 0.1380 0.1283 0.1 0.036 0.14 0.087 0.15 rs3825074 . . Likely benign not_specified RCV000117852.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1364 0.0271 0.0883 0.0536 0.1867 0.2261 0.1497 0.1364 0.1283 0.1266 0.0311 0.0931 0.0397 0.1660 0.2232 0.1566 0.1633 het 1664.20 153 11 64415767 . G A 1664.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.222;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5136;MQ=59.36;MQ0=0;MQRankSum=1.584;QD=10.88;ReadPosRankSum=0.364;VQSLOD=6.1634;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,70:153:99:1694,0,2003 11 64418900 64418900 G A exonic NRXN2 synonymous SNV NRXN2:NM_138732:exon12:c.C2625T:p.I875I,NRXN2:NM_015080:exon14:c.C2745T:p.I915I 0.38 0.064 0.41 0.22 0.71 0.61 0.5760 0.1528 0.4470 0.2295 0.5887 0.7002 0.6105 0.6046 0.52 0.17 0.71 0.39 0.61 rs526338 COSM4146072 1(breast);1(skin);1(thyroid) Likely benign not_specified RCV000117850.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5746 0.1444 0.4514 0.6842 0.2255 0.5875 0.7026 0.6161 0.6032 0.4920 0.1470 0.4714 0.7219 0.2478 0.5877 0.6845 0.6316 het 1313.47 82 11 64418900 . G A 1313.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.090;DP=82;Dels=0.00;FS=0.876;HRun=1;HaplotypeScore=2.6851;MQ=59.26;MQ0=0;MQRankSum=-0.473;QD=16.02;ReadPosRankSum=-0.180;VQSLOD=6.3278;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,49:82:99:1343,0,873 11 64572018 64572018 T C exonic MEN1 nonsynonymous SNV MEN1:NM_000244:exon10:c.A1636G:p.T546A,MEN1:NM_130799:exon10:c.A1621G:p.T541A,MEN1:NM_130800:exon10:c.A1636G:p.T546A,MEN1:NM_130801:exon10:c.A1636G:p.T546A,MEN1:NM_130802:exon10:c.A1636G:p.T546A,MEN1:NM_130803:exon10:c.A1636G:p.T546A,MEN1:NM_130804:exon11:c.A1636G:p.T546A 0.83 0.67 0.9 0.7 0.99 0.99 0.9378 0.7079 0.8797 0.7002 0.9849 0.9952 0.9525 0.9958 0.91 0.74 1. 0.74 0.93 rs2959656 COSM255213 22(soft_tissue);1(lung) Benign|Benign|Benign|Uncertain significance\x2cBenign not_provided|not_specified|Multiple_endocrine_neoplasia\x2c_type_1|Primary_hyperparathyroidism\x2cnot_specified RCV000034785.3|RCV000082334.6|RCV000204881.2|RCV000210359.1\x2cRCV000121334.3 MedGen|MedGen|MeSH:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:SNOMED_CT\x2cMedGen CN221809|CN169374|D018761:C0025267:131100:ORPHA652:30664006|C0221002:36348003\x2cCN169374 . . . . . . 0.866 0.026 T 0.0 0.026 B 0.0 0.013 B 0.231 0.159 N 1 0.090 P -0.69 0.019 N -5.71 0.993 D -0.69 0.197 N 0.011 0.031 -0.936 0.432 T 0.000 0.000 T . . . -0.869 0.037 0.030 0.541 0.050 0.006 0.027 N c -1.299 -1.217 1.000 0.747 0.707 0.730 0 3.35 0.373 0.139 0.157 0.016 0.142 0.007 0.175 0.004 0.083 5.500 0.160 . . . 0.9390 0.7063 0.8813 0.9958 0.6980 0.9816 0.9959 0.9559 0.9948 0.8934 0.7058 0.8986 0.9967 0.6936 0.9814 0.9959 0.9664 hom 4623.44 146 11 64572018 . T C 4623.44 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4440;MQ=59.53;MQ0=0;QD=31.67;VQSLOD=9.5064;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4622,421,0 11 64572557 64572557 A G exonic MEN1 synonymous SNV MEN1:NM_000244:exon9:c.T1314C:p.H438H,MEN1:NM_130799:exon9:c.T1299C:p.H433H,MEN1:NM_130800:exon9:c.T1314C:p.H438H,MEN1:NM_130801:exon9:c.T1314C:p.H438H,MEN1:NM_130802:exon9:c.T1314C:p.H438H,MEN1:NM_130803:exon9:c.T1314C:p.H438H,MEN1:NM_130804:exon10:c.T1314C:p.H438H 0.98 0.91 1. 1. 1. 1. 0.9927 0.9202 0.9962 1 1 0.9999 0.9989 0.9999 0.98 0.93 1. 0.96 1. rs540012 . . Benign\x2cBenign Multiple_endocrine_neoplasia\x2c_type_1\x2cnot_specified RCV000205798.3\x2cRCV000153486.2 MeSH:MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen D018761:C0025267:131100:ORPHA652:30664006\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9184 0.9969 1 0.9999 1.0000 0.9999 0.9965 0.9999 0.9768 0.9185 0.9976 1 1 1 0.9998 0.9980 hom 3024.20 97 11 64572557 . A G 3024.20 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=59.52;MQ0=0;QD=31.18;VQSLOD=9.1346;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3057,253,0 11 64591972 64591972 T C exonic CDC42BPG synonymous SNV CDC42BPG:NM_017525:exon37:c.A4629G:p.L1543L 0.41 0.5 0.41 0.053 0.62 0.44 0.5260 0.5330 0.3010 0.0485 0.4929 0.6388 0.5732 0.4839 0.61 0.52 0.66 0.46 0.53 rs10792447 COSM1355815 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5149 0.5225 0.3182 0.6731 0.0422 0.4808 0.6460 0.5543 0.4832 0.5453 0.5214 0.3807 0.6457 0.0414 0.4787 0.6355 0.5642 hom 2105.10 69 11 64591972 . T C 2105.10 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.579;DP=69;Dels=0.00;FS=4.708;HRun=0;HaplotypeScore=5.7474;MQ=59.39;MQ0=0;MQRankSum=1.630;QD=30.51;ReadPosRankSum=1.172;VQSLOD=4.1049;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,67:69:99:2138,141,0 11 64597506 64597506 T C exonic CDC42BPG nonsynonymous SNV CDC42BPG:NM_017525:exon30:c.A3404G:p.Q1135R 0.32 0.24 0.36 0.049 0.58 0.4 0.4735 0.3098 0.2756 0.0449 0.4771 0.5963 0.5251 0.4416 0.51 0.31 0.61 0.27 0.55 rs3741395 COSM3721192 1(thyroid);1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . 0.238 0.178 T 0.0 0.026 B 0.001 0.040 B 0.602 0.109 N 0.911 0.275 P 0.47 0.131 N 3.03 0.089 T -1.82 0.427 N 0.112 0.121 -1.026 0.216 T 0.000 0.000 T . . . 0.453 0.138 7.062 0.881 0.172 0.568 0.299 D c -0.876 -0.745 0.127 0.170 0.696 0.567 0 -0.416 0.117 0.003 0.129 -0.334 0.073 0.800 0.295 0.715 0.313 8.586 0.326 Citron homology (CNH) domain ENSG00000171219.8 Skin_Sun_Exposed_Lower_leg 0.4633 0.2944 0.2881 0.5500 0.0390 0.4609 0.6060 0.5037 0.4375 0.4550 0.2963 0.3361 0.5066 0.0353 0.4579 0.5946 0.5072 hom 1510.36 55 11 64597506 . T C 1510.36 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7134;MQ=58.04;MQ0=0;QD=27.46;VQSLOD=6.8334;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1543,132,0 11 64621856 64621856 A G exonic EHD1 synonymous SNV EHD1:NM_006795:exon5:c.T1554C:p.P518P,EHD1:NM_001282445:exon6:c.T1596C:p.P532P,EHD1:NM_001282444:exon7:c.T1554C:p.P518P 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 0.9999 1. 1. 1. 0.96 0.9 rs3897618 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1.0000 1 1.0000 0.9999 0.9998 1 1 1 1 1 1 hom 1774.36 61 11 64621856 . A G 1774.36 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9979;MQ=59.24;MQ0=0;QD=29.09;VQSLOD=7.7909;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1807,159,0 11 64622869 64622869 G C exonic EHD1 synonymous SNV EHD1:NM_006795:exon4:c.C1005G:p.L335L,EHD1:NM_001282445:exon5:c.C1047G:p.L349L,EHD1:NM_001282444:exon6:c.C1005G:p.L335L 0.7 0.51 0.83 0.56 0.88 0.81 0.8206 0.5718 0.8423 0.5158 0.9574 0.8811 0.8146 0.8228 0.78 0.59 0.88 0.69 0.88 rs10897533 COSM3752613 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8260 0.5713 0.8444 0.7720 0.5067 0.9516 0.8855 0.8409 0.8191 0.7888 0.5832 0.8294 0.7367 0.5336 0.9507 0.8916 0.8661 hom 3681.13 106 11 64622869 . G C 3681.13 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9958;MQ=59.71;MQ0=0;QD=34.73;VQSLOD=9.3624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3681,289,0 11 64645871 64645871 A G exonic EHD1 synonymous SNV EHD1:NM_006795:exon1:c.T66C:p.A22A,EHD1:NM_001282445:exon2:c.T108C:p.A36A,EHD1:NM_001282444:exon3:c.T66C:p.A22A 0.65 0.34 0.82 0.56 0.88 0.81 0.8085 0.4352 0.8358 0.5154 0.9527 0.8819 0.8137 0.8221 0.73 0.45 0.88 0.54 0.88 rs1211284 COSM3752614 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8154 0.4275 0.8366 0.7666 0.5055 0.9455 0.8866 0.8342 0.8191 0.7461 0.4375 0.8198 0.7285 0.5266 0.9444 0.8920 0.8513 hom 2922.44 94 11 64645871 . A G 2922.44 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;QD=31.09;VQSLOD=9.1431;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2955,241,0 11 64677293 64677293 G C exonic ATG2A nonsynonymous SNV ATG2A:NM_015104:exon14:c.C1967G:p.P656R 1. 1. 1. 1. 1. 1. 0.9998 0.9978 0.9998 1 1 0.9999 1 1 1. 1. 1. 1. 0.82 rs656195 COSM4146083 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1 0.090 P -2.485 0.001 N 3.52 0.049 T 3.5 0.001 N 0.039 0.278 -0.972 0.367 T 0.000 0.000 T . . . 0.943 0.184 10.33 0.194 0.007 0.063 0.121 N c -0.978 -0.697 0.039 0.144 0.718 0.821 0 4.67 0.579 0.966 0.287 0.014 0.141 0.038 0.207 0.986 0.517 11.152 0.475 . . . 0.9998 0.9975 0.9999 1 0.9999 1 0.9999 1 1.0000 0.9993 0.9977 1 1 1 1 0.9999 1 hom 1548.13 53 11 64677293 . G C 1548.13 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=29.21;VQSLOD=8.2089;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1581,132,0 11 64680819 64680819 G A exonic ATG2A synonymous SNV ATG2A:NM_015104:exon5:c.C645T:p.D215D 0.55 0.41 0.47 0.54 0.72 0.64 0.6743 0.4790 0.5165 0.5213 0.7888 0.7363 0.6994 0.6769 0.64 0.47 0.73 0.58 0.58 rs618006 COSM3752619 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6538 0.4413 0.4971 0.6571 0.4869 0.7875 0.7285 0.6653 0.6676 0.6467 0.4656 0.5143 0.6159 0.5049 0.7881 0.7382 0.7112 het 94.60 10 11 64680819 . G A 94.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.133;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.741;QD=9.46;ReadPosRankSum=0.000;VQSLOD=11.1919;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:99:125,0,131 11 64789194 64789194 T C exonic ARL2 nonsynonymous SNV ARL2:NM_001199745:exon4:c.T341C:p.V114A,ARL2:NM_001667:exon5:c.T422C:p.V141A 0.46 0.71 0.39 0.18 0.61 0.3 0.5239 0.7048 0.2914 0.1631 0.5779 0.6102 0.5561 0.3872 0.65 0.71 0.63 0.5 0.5 rs664226 COSM1132962 1(upper_aerodigestive_tract);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.017 0.279 N 0.968 0.258 P -0.805 0.016 N -1.55 0.817 D 0.39 0.038 N 0.014 0.003 -0.923 0.452 T 0.000 0.000 T . . . 0.734 0.164 9.047 0.798 0.124 0.051 0.107 N c -0.737 -0.495 1.000 0.422 0.732 0.924 0 3.5 0.390 1.899 0.392 0.040 0.155 0.929 0.320 0.993 0.574 8.155 0.301 P-loop containing nucleoside triphosphate hydrolase|Small GTP-binding protein domain ENSG00000270775.1|ENSG00000270775.1|ENSG00000270775.1|ENSG00000270775.1|ENSG00000270775.1|ENSG00000270775.1|ENSG00000213465.3|ENSG00000270775.1|ENSG00000213465.3|ENSG00000270775.1|ENSG00000270775.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.5119 0.7012 0.3063 0.7154 0.1607 0.5695 0.6110 0.5493 0.3823 0.6083 0.7009 0.3628 0.7567 0.1850 0.5916 0.6186 0.5512 hom 722.23 23 11 64789194 . T C 722.23 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.36;MQ0=0;QD=31.40;VQSLOD=9.4226;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.19:755,57,0 11 64799998 64799998 T C exonic SNX15 synonymous SNV SNX15:NM_013306:exon3:c.T231C:p.P77P,SNX15:NM_147777:exon3:c.T231C:p.P77P 0.37 0.21 0.61 0.18 0.62 0.37 0.5346 0.2781 0.5602 0.1655 0.6226 0.6281 0.5774 0.4556 0.53 0.29 0.65 0.34 0.66 rs534236 . . . . . . . . . . . . . . . . . . . . . . . . . 0.001 0.455 P . . . . . . -7.0 0.937 D . . -0.928 0.444 T 0.000 0.000 T . . . -0.639 0.048 0.100 0.679 0.082 0.017 0.053 N c -1.139 -1.373 1.000 0.489 0.713 0.817 0 -7.72 0.011 -4.275 0.003 -1.066 0.020 0.000 0.063 0.495 0.270 0.510 0.005 . ENSG00000270775.1|ENSG00000270775.1|ENSG00000270775.1 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Muscularis 0.5461 0.2775 0.5600 0.7222 0.1635 0.6183 0.6293 0.5799 0.4630 0.5078 0.2823 0.6098 0.7285 0.1836 0.6210 0.6338 0.5642 hom 2203.93 81 11 64799998 . T C 2203.93 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.63;MQ0=1;QD=27.21;VQSLOD=7.7800;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2237,184,0 11 64882789 64882789 C T exonic TM7SF2 nonsynonymous SNV TM7SF2:NM_003273:exon8:c.C896T:p.T299I 0.37 0.33 0.58 0.27 0.45 0.28 0.4179 0.3428 0.5558 0.2833 0.4542 0.4420 0.4388 0.3233 0.4 0.33 0.44 0.26 0.42 rs1129195 COSM4165893 1(kidney) . . . . . . . . . . . 0.679 0.049 T 0.0 0.026 B 0.0 0.013 B 0.384 0.133 N 1 0.090 P -0.795 0.016 N -4.44 0.975 D 1.99 0.004 N 0.381 0.478 -0.967 0.378 T 0.000 0.000 T . . . 0.507 0.143 7.486 0.814 0.132 0.007 0.031 N c -1.192 -1.054 1.000 0.747 0.632 0.406 0 2.68 0.307 2.555 0.453 0.154 0.240 0.132 0.232 0.566 0.282 7.788 0.281 . ENSG00000270775.1 Esophagus_Muscularis 0.4264 0.3399 0.5436 0.4421 0.2812 0.4535 0.4440 0.4461 0.3308 0.4146 0.3409 0.5562 0.4172 0.3 0.4556 0.4529 0.4078 hom 6771.81 233 11 64882789 . C T 6771.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.165;DP=233;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.7827;MQ=58.68;MQ0=0;MQRankSum=0.567;QD=29.06;ReadPosRankSum=1.329;VQSLOD=4.8219;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,231:233:99:6733,489,0 11 64884052 64884052 G A exonic ZNHIT2 synonymous SNV ZNHIT2:NM_014205:exon1:c.C1074T:p.A358A 0.89 0.9 0.92 0.93 0.94 0.74 0.9171 0.9178 0.8618 0.9391 0.9617 0.9441 0.9263 0.8080 0.93 0.91 0.94 0.89 0.88 rs1546532 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9151 0.9151 0.8674 0.9607 0.9390 0.9603 0.9428 0.9301 0.8034 0.9376 0.9183 0.8864 0.9735 0.9377 0.9602 0.9460 0.9327 hom 2449.24 71 11 64884052 . G A 2449.24 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7880;MQ=59.08;MQ0=0;QD=34.50;VQSLOD=9.3598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2482,202,0 11 64898226 64898226 C T exonic SYVN1 synonymous SNV SYVN1:NM_032431:exon11:c.G1011A:p.S337S,SYVN1:NM_172230:exon11:c.G1011A:p.S337S 0.13 0.11 0.16 0.061 0.23 0.12 0.1906 0.1345 0.0987 0.0668 0.2255 0.2342 0.1899 0.1548 0.2 0.12 0.24 0.065 0.066 rs9971407 COSM330243 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1795 0.1202 0.1043 0.1555 0.0608 0.2229 0.2320 0.1838 0.1517 0.1867 0.1129 0.1193 0.1358 0.0488 0.2301 0.2389 0.1928 hom 1272.18 48 11 64898226 . C T 1272.18 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8773;MQ=57.44;MQ0=0;QD=26.50;VQSLOD=5.8302;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1305,105,0 11 64950970 64950970 C T exonic CAPN1 synonymous SNV CAPN1:NM_001198868:exon4:c.C363T:p.I121I,CAPN1:NM_001198869:exon4:c.C363T:p.I121I,CAPN1:NM_005186:exon4:c.C363T:p.I121I 0.24 0.053 0.4 0.3 0.3 0.28 0.2898 0.0871 0.4277 0.2821 0.2922 0.2996 0.3136 0.2744 0.22 0.092 0.29 0.27 . rs17583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2951 0.0830 0.4193 0.2653 0.2769 0.2968 0.2979 0.2982 0.2731 0.2453 0.0894 0.4379 0.2682 0.2676 0.2967 0.3058 0.3193 het 740.41 60 11 64950970 . C T 740.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.008;DP=60;Dels=0.00;FS=3.880;HRun=1;HaplotypeScore=1.5226;MQ=59.69;MQ0=0;MQRankSum=0.096;QD=12.34;ReadPosRankSum=-0.763;VQSLOD=5.6990;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,32:60:99:770,0,703 11 64981472 64981472 G C exonic SLC22A20 synonymous SNV SLC22A20:NM_001004326:exon1:c.G129C:p.T43T 0.35 0.23 0.29 0.39 0.46 0.38 0.4338 0.2775 0.2981 0.4094 0.4496 0.4773 0.4449 0.4361 0.38 0.22 0.45 0.16 . rs239258 COSM429594;COSM429595 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4151 0.2451 0.2860 0.4439 0.3943 0.4250 0.4726 0.4266 0.4264 0.3892 0.2417 0.3019 0.4371 0.4095 0.4266 0.4676 0.3975 het 258.62 17 11 64981472 . G C 258.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.551;DP=17;Dels=0.00;FS=2.963;HRun=1;HaplotypeScore=0.9867;MQ=60.00;MQ0=0;MQRankSum=-0.184;QD=15.21;ReadPosRankSum=-0.061;VQSLOD=6.2197;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,10:17:99:289,0,129 11 64981837 64981837 C T exonic SLC22A20 nonsynonymous SNV SLC22A20:NM_001004326:exon2:c.C422T:p.A141V 0.29 0.14 0.46 0.26 0.36 0.32 0.3377 0.1884 0.4837 0.2403 0.3366 0.3535 0.3640 0.3093 0.29 0.18 0.34 0.33 . rs12420456 COSM429600;COSM429601 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3401 0.1816 0.4726 0.3003 0.2336 0.3286 0.3528 0.3465 0.3076 0.3052 0.1902 0.4832 0.3267 0.2176 0.3306 0.3619 0.3579 het 202.03 31 11 64981837 . C T 202.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.679;DP=31;Dels=0.00;FS=8.873;HRun=0;HaplotypeScore=0.9734;MQ=60.00;MQ0=0;MQRankSum=1.493;QD=6.52;ReadPosRankSum=-1.267;VQSLOD=2.6314;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,9:31:99:232,0,560 11 64981853 64981853 G T exonic SLC22A20 nonsynonymous SNV SLC22A20:NM_001004326:exon2:c.G438T:p.M146I 0.3 0.11 0.27 0.39 0.41 0.36 0.3821 0.1539 0.2603 0.3891 0.4042 0.4293 0.3888 0.3983 0.34 0.15 0.43 0.2 . rs239259 COSM429603;COSM429602 1(breast);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3803 0.1471 0.2603 0.4179 0.3918 0.3924 0.4347 0.3902 0.4024 0.3373 0.1455 0.2709 0.4305 0.4050 0.3970 0.4283 0.3571 het 442.93 27 11 64981853 . G T 442.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.561;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=60.00;MQ0=0;MQRankSum=-0.116;QD=16.40;ReadPosRankSum=0.983;VQSLOD=5.5707;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,19:27:99:473,0,182 11 64990041 64990041 G C exonic SLC22A20 nonsynonymous SNV SLC22A20:NM_001004326:exon4:c.G737C:p.G246A 0.57 0.19 0.72 0.68 0.78 0.67 0.7124 0.2701 0.7390 0.6642 0.7236 0.7812 0.7461 0.6978 0.63 0.31 0.78 0.49 . rs514076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7191 0.2620 0.7283 0.7198 0.6628 0.7245 0.7898 0.7346 0.7046 0.6269 0.2672 0.7506 0.7550 0.6604 0.7305 0.7926 0.7188 hom 2068.51 68 11 64990041 . G C 2068.51 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;QD=30.42;VQSLOD=8.5582;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2102,159,0 11 65144075 65144075 T C exonic SLC25A45 nonsynonymous SNV SLC25A45:NM_001278250:exon5:c.A598G:p.M200V,SLC25A45:NM_001300820:exon5:c.A484G:p.M162V,SLC25A45:NM_001077241:exon6:c.A544G:p.M182V,SLC25A45:NM_182556:exon7:c.A670G:p.M224V,SLC25A45:NM_001278251:exon10:c.A544G:p.M182V 0.97 0.9 0.99 1. 1. 1. 0.9927 0.9202 0.9944 1 1 0.9995 0.9978 0.9998 0.97 0.92 1. 0.98 0.98 rs624307 COSM4146100 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.970 0.257 P -2.625 0.000 N -0.58 0.714 T 2.67 0.002 N 0.081 0.204 -0.958 0.395 T 0.000 0.000 T . . . 0.442 0.137 6.973 0.844 0.148 0.036 0.087 N c -0.903 -0.565 1.000 0.747 0.672 0.522 0 4.74 0.596 4.734 0.615 0.016 0.142 1.000 0.715 0.701 0.310 11.274 0.482 Mitochondrial carrier domain . . 0.9938 0.9180 0.9945 1 1 1 0.9995 0.9962 0.9998 0.9776 0.9228 0.9952 1 1 1 0.9992 0.9969 hom 4820.53 160 11 65144075 . T C 4820.53 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=59.57;MQ0=0;QD=30.13;VQSLOD=7.9313;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4819,415,0 11 65161129 65161129 C T exonic FRMD8 synonymous SNV FRMD8:NM_001300832:exon3:c.C171T:p.D57D,FRMD8:NM_031904:exon4:c.C339T:p.D113D 0.29 0.028 0.29 0.27 0.55 0.39 0.4642 0.1062 0.2466 0.2848 0.6210 0.5687 0.5104 0.4351 0.41 0.12 0.56 0.28 0.53 rs2073800 COSM1746471;COSM3765584 1(urinary_tract);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4507 0.0935 0.2517 0.5103 0.2764 0.6168 0.5627 0.4716 0.4271 0.4270 0.0992 0.2907 0.5233 0.2810 0.6240 0.5873 0.5173 hom 1775.47 54 11 65161129 . C T 1775.47 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8730;MQ=59.65;MQ0=0;QD=32.88;VQSLOD=9.0586;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:54:99:1808,147,0 11 65347636 65347636 G C exonic EHBP1L1 nonsynonymous SNV EHBP1L1:NM_001099409:exon5:c.G397C:p.V133L,EHBP1L1:NM_001351087:exon5:c.G397C:p.V133L 1. 1. 1. 1. 1. 1. 0.9999 0.9987 0.9999 1 1 1 1 1 1. 1. 1. 0.98 . rs1194100 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.006 0.112 B 0.003 0.363 N 0.999 0.212 P -0.43 0.028 N 0.93 0.441 T 1.23 0.016 N 0.04 0.062 -0.942 0.424 T 0.000 0.000 T . . . -0.230 0.074 0.948 0.149 0.003 0.023 0.065 N c -1.184 -1.027 1.000 0.747 0.672 0.522 0 4.39 0.520 0.301 0.188 -0.331 0.074 0.173 0.238 0.011 0.114 6.858 0.231 EEIG1/EHBP1 N-terminal domain . . 0.9999 0.9988 0.9999 1 1 1 1 1 1 0.9996 0.9986 1 1 1 1 1 1 hom 2168.83 69 11 65347636 . G C 2168.83 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=31.43;VQSLOD=8.7775;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2202,175,0 11 65349849 65349849 A T exonic EHBP1L1 nonsynonymous SNV EHBP1L1:NM_001099409:exon9:c.A1706T:p.D569V 0.94 0.8 0.98 0.99 1. 1. 0.9855 0.8403 0.9917 0.9944 0.9997 0.9992 0.9941 0.9991 0.95 0.85 1. 0.95 . rs1194099 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.344 0.139 N 1 0.090 P -2.005 0.002 N 0.55 0.547 T 3.6 0.001 N 0.04 0.020 -0.960 0.392 T 0.000 0.000 T . . . -1.490 0.017 0.003 0.100 0.001 0.010 0.037 N c -1.521 -1.464 0.992 0.326 0.672 0.522 0 -0.383 0.118 -0.026 0.122 0.152 0.238 0.000 0.063 0.008 0.104 1.383 0.021 . . . 0.9875 0.8345 0.9922 0.9999 0.9944 0.9995 0.9993 0.9923 0.9992 0.9542 0.8401 0.9928 1 0.9950 1 0.9994 0.9980 hom 1022.57 38 11 65349849 . A T 1022.57 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.84;MQ0=0;QD=26.91;VQSLOD=7.1439;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:38:90.21:1056,90,0 11 65380916 65380916 G A exonic MAP3K11 synonymous SNV MAP3K11:NM_002419:exon1:c.C312T:p.G104G 0.35 0.12 0.29 0.32 0.44 0.66 0.4263 0.1768 0.2700 0.3379 0.5565 0.4436 0.4512 0.6072 0.35 0.19 0.43 0.35 0.3 rs2004649 COSM3998538 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4237 0.1644 0.2759 0.4941 0.3303 0.5560 0.4353 0.4252 0.6039 0.3819 0.1686 0.3019 0.5099 0.3422 0.5603 0.4638 0.4856 het 1031.56 108 11 65380916 . G A 1031.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.875;DP=108;Dels=0.00;FS=0.865;HRun=0;HaplotypeScore=9.7373;MQ=59.05;MQ0=0;MQRankSum=0.726;QD=9.55;ReadPosRankSum=2.145;VQSLOD=2.8219;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,44:108:99:1062,0,1291 11 65383896 65383896 G C exonic PCNX3 synonymous SNV PCNX3:NM_032223:exon1:c.G114C:p.V38V 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 1 1 1.0000 1 0.9999 . . . 1. . rs7947140 COSM4594946 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 0.9999 1 1 1 1.0000 1 1.0000 1 1 1 1 1 1 1 1 hom 1590.44 46 11 65383896 . G C 1590.44 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8899;MQ=58.68;MQ0=0;QD=34.57;VQSLOD=8.5086;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1623,129,0 11 65384727 65384727 C T exonic PCNX3 synonymous SNV PCNX3:NM_032223:exon3:c.C348T:p.P116P 0.3 0.26 0.42 0.42 0.2 0.22 0.3045 0.2918 0.5286 0.4697 0.2448 0.2598 0.2581 0.2579 0.21 0.24 0.2 0.26 . rs12790427 COSM147270 1(stomach);1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2532 0.2473 0.4609 0.1719 0.4094 0.1896 0.1945 0.2418 0.2262 0.2300 0.2630 0.4342 0.1490 0.3675 0.1918 0.1974 0.1973 het 208.97 15 11 65384727 . C T 208.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.237;DP=15;Dels=0.00;FS=6.560;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.766;QD=13.93;ReadPosRankSum=-0.059;VQSLOD=4.9930;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,9:15:99:239,0,174 11 65385606 65385606 A G exonic PCNX3 nonsynonymous SNV PCNX3:NM_032223:exon6:c.A773G:p.Q258R 1. 0.99 1. 1. 1. 1. 0.9987 0.9856 0.9990 1 1 0.9998 1 0.9999 1. 0.99 1. 0.97 . rs1151489 . . . . . . . . . . . . . 0.711 0.040 T 0.0 0.026 B 0.0 0.013 B 0.666 0.104 N 1 0.090 P 0 0.065 N 3.34 0.061 T -0.32 0.123 N 0.008 0.001 -1.006 0.280 T 0.000 0.000 T . . . -0.427 0.060 0.332 0.667 0.079 0.044 0.099 N c -0.800 -0.584 1.000 0.437 0.707 0.730 0 3.04 0.340 2.304 0.431 -0.271 0.086 0.588 0.274 0.975 0.474 5.409 0.155 . . . 0.9989 0.9859 0.9991 1 1 1 0.9998 0.9987 0.9999 0.9957 0.9851 1 1 1 1 0.9999 0.9990 hom 367.41 12 11 65385606 . A G 367.41 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.62;VQSLOD=13.6414;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:400,33,0 11 65387378 65387378 T A exonic PCNX3 synonymous SNV PCNX3:NM_032223:exon8:c.T1983A:p.A661A 0.41 0.21 0.32 0.44 0.47 0.67 0.4616 0.2514 0.2887 0.4708 0.5691 0.4644 0.4906 0.6364 0.37 0.24 0.44 0.43 . rs61744384 COSM4146109;COSM4146110;COSM4146108 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4528 0.2257 0.2937 0.5259 0.4673 0.5656 0.4530 0.4484 0.6275 0.4204 0.2262 0.3186 0.5633 0.5155 0.5743 0.4845 0.5092 het 548.38 41 11 65387378 . T A 548.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.902;DP=41;Dels=0.00;FS=6.658;HRun=0;HaplotypeScore=0.9979;MQ=58.93;MQ0=0;MQRankSum=-0.562;QD=13.38;ReadPosRankSum=-0.170;VQSLOD=4.8947;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,22:41:99:578,0,547 11 65403651 65403651 C A exonic PCNX3 nonsynonymous SNV PCNX3:NM_032223:exon33:c.C5466A:p.H1822Q 0.014 0.0015 0.019 . 0.05 0.0041 0.0558 0.0132 0.0347 0 0.0953 0.0844 0.0639 0.0070 0.036 0.0093 0.049 0.011 . rs7114037 . . . . . . . . . . . . . 0.113 0.287 T 0.001 0.067 B 0.006 0.112 B 0.000 0.629 D 0.937 0.269 N -0.345 0.033 N 3.4 0.057 T 0.22 0.047 N 0.099 0.195 -0.961 0.391 T 0.001 0.003 T . . . 1.123 0.202 11.34 0.927 0.216 0.851 0.439 D c -0.984 -0.843 1.000 0.747 0.672 0.522 0 -3.95 0.038 0.218 0.173 -0.003 0.134 0.993 0.376 0.995 0.604 4.019 0.091 . . . 0.0318 0.0082 0.0169 0.0441 0 0.0437 0.0486 0.0356 0.0050 0.0288 0.0095 0.0191 0.0464 0 0.0453 0.0399 0.0225 het 186 14 11 65403651 . C A 186 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.840;DP=14;Dels=0.00;FS=8.436;HRun=2;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=0.068;QD=13.29;ReadPosRankSum=-1.027;VQSLOD=4.5765;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:216,0,198 11 65404018 65404018 G A exonic PCNX3 nonsynonymous SNV PCNX3:NM_032223:exon34:c.G5750A:p.R1917Q 0.047 . 0.011 0.064 0.034 0.13 0.0575 0.0103 0.0134 0.0961 0.0711 0.0497 0.0395 0.1133 0.028 0.01 0.036 0.043 . rs77200859 . . . . . . . . . . . . . 0.187 0.214 T 0.017 0.163 B 0.002 0.063 B 0.019 0.015 N 0.981 0.250 N 0.205 0.094 N 3.23 0.070 T -0.19 0.100 N 0.04 0.032 -0.982 0.346 T 0.002 0.005 T . . . 3.128 0.436 22.6 0.998 0.842 0.834 0.423 D c -0.415 -0.252 1.000 0.446 0.719 0.830 0 2.54 0.295 2.627 0.459 0.953 0.551 0.997 0.399 0.959 0.439 5.705 0.171 . . . 0.0437 0.0073 0.0135 0.0374 0.0742 0.0499 0.0376 0.0341 0.0948 0.0319 0.0083 0.0119 0.0331 0.0758 0.0513 0.0366 0.0470 het 200.13 15 11 65404018 . G A 200.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.428;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.096;QD=13.34;ReadPosRankSum=1.096;VQSLOD=11.3388;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:230,0,195 11 65408937 65408937 C T exonic SIPA1 nonsynonymous SNV SIPA1:NM_006747:exon2:c.C545T:p.S182F,SIPA1:NM_153253:exon2:c.C545T:p.S182F 0.21 0.3 0.14 0.35 0.13 0.063 0.1494 0.2713 0.1211 0.3321 0.1137 0.1331 0.1484 0.0770 0.18 0.27 0.13 0.21 0.2 rs3741378 COSM4988722 1(soft_tissue) . . . . . . . . . . . 0.003 0.721 D 0.32 0.312 B 0.192 0.348 B 0.726 0.099 U 1 0.090 P 1.95 0.526 M -1.7 0.831 D -3.03 0.629 D 0.119 0.211 -1.092 0.052 T 0.000 0.000 T . . . 1.871 0.286 15.41 0.996 0.751 0.205 0.209 N c -0.497 -0.560 1.000 0.480 0.722 0.854 0 2.65 0.305 1.844 0.387 0.017 0.142 0.003 0.159 0.127 0.198 12.281 0.539 . ENSG00000213445.4 Esophagus_Mucosa 0.1453 0.2696 0.1261 0.1308 0.3310 0.1147 0.1308 0.1404 0.0794 0.1680 0.2645 0.1277 0.1192 0.2766 0.1097 0.1216 0.0967 het 581.45 50 11 65408937 . C T 581.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.190;DP=50;Dels=0.00;FS=1.133;HRun=1;HaplotypeScore=6.1208;MQ=58.60;MQ0=0;MQRankSum=0.197;QD=11.63;ReadPosRankSum=-0.445;VQSLOD=5.1833;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:26,23:50:99:611,0,768 11 65546857 65546857 A C exonic AP5B1 synonymous SNV AP5B1:NM_138368:exon2:c.T1107G:p.L369L 0.45 0.63 0.39 0.37 0.53 0.27 0.4902 0.6284 0.3650 0.3711 0.4563 0.5436 0.4758 0.3308 0.56 0.62 0.54 0.52 . rs610037 COSM3752630;COSM3752631 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4535 0.6123 0.3420 0.4240 0.3524 0.4195 0.5346 0.4871 0.2936 0.5117 0.6253 0.3768 0.3940 0.3354 0.4115 0.5002 0.4765 het 297.87 22 11 65546857 . A C 297.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.167;DP=22;Dels=0.00;FS=1.565;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.379;QD=13.54;ReadPosRankSum=-0.460;VQSLOD=6.0423;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,11:22:99:328,0,314 11 65547333 65547333 G A exonic AP5B1 nonsynonymous SNV AP5B1:NM_138368:exon2:c.C631T:p.L211F 0.3 0.46 0.24 0.34 0.32 0.085 0.2991 0.4409 0.2172 0.3243 0.2737 0.3292 0.2855 0.1123 0.35 0.41 0.32 0.37 . rs12146493 COSM1475762;COSM1475761 1(thyroid) . . . . . . . . . . . 0.0 0.912 D 0.994 0.647 D 0.952 0.674 D . . . 0.989 0.243 P 2.455 0.715 M . . . -1.66 0.397 N 0.333 0.434 . . . . . . . . . 3.912 0.527 23.5 0.996 0.729 0.080 0.138 N n 2.224 4.199 1.000 0.747 0.493 0.174 0 4.6 0.564 0.843 0.271 1.048 0.713 0.012 0.185 0.357 0.247 13.096 0.584 . ENSG00000214659.4|ENSG00000214659.4|ENSG00000173327.3|ENSG00000255404.1|ENSG00000172818.5|ENSG00000214659.4|ENSG00000214659.4|ENSG00000255404.1|ENSG00000172818.5 Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2765 0.4344 0.2124 0.2403 0.3232 0.2632 0.3192 0.2955 0.1016 0.3384 0.4373 0.2237 0.2616 0.3158 0.2721 0.3094 0.2975 het 791.28 72 11 65547333 . G A 791.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.087;DP=72;Dels=0.00;FS=2.279;HRun=1;HaplotypeScore=0.5784;MQ=59.68;MQ0=0;MQRankSum=0.879;QD=10.99;ReadPosRankSum=0.034;VQSLOD=6.7451;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:821,0,965 11 65623519 65623519 G A exonic CFL1 synonymous SNV CFL1:NM_005507:exon2:c.C198T:p.D66D 0.43 0.2 0.41 0.33 0.67 0.6 0.5787 0.2542 0.3569 0.3261 0.7035 0.6732 0.6443 0.6348 0.53 0.26 0.67 0.41 0.69 rs4621 COSM3752634 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5760 0.2507 0.3698 0.6342 0.3186 0.7036 0.6737 0.6160 0.6343 0.5329 0.2573 0.3966 0.6722 0.3108 0.7030 0.6767 0.6151 hom 7952.84 250 11 65623519 . G A 7952.84 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=250;DS;Dels=0.00;FS=3.382;HRun=0;HaplotypeScore=4.3977;MQ=59.24;MQ0=0;MQRankSum=-0.651;QD=31.81;ReadPosRankSum=-0.762;VQSLOD=3.5029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7912,620,0 11 65629932 65629932 T C exonic MUS81 synonymous SNV MUS81:NM_001350283:exon6:c.T537C:p.A179A,MUS81:NM_025128:exon6:c.T537C:p.A179A 0.43 0.2 0.41 0.33 0.67 0.6 0.5752 0.2528 0.3515 0.3215 0.6989 0.6699 0.6411 0.6331 0.52 0.25 0.66 . 0.49 rs659857 COSM3931404;COSM3931405 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5741 0.2492 0.3670 0.6342 0.3165 0.7022 0.6716 0.6156 0.6339 0.5305 0.2557 0.4017 0.6722 0.3077 0.7027 0.6739 0.6167 hom 2134.42 78 11 65629932 . T C 2134.42 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=27.36;VQSLOD=8.0497;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2167,166,0 11 65629934 65629934 G C exonic MUS81 nonsynonymous SNV MUS81:NM_001350283:exon6:c.G539C:p.R180P,MUS81:NM_025128:exon6:c.G539C:p.R180P 0.43 0.2 0.41 0.33 0.67 0.6 0.5752 0.2530 0.3515 0.3209 0.6988 0.6699 0.6408 0.6330 0.53 0.26 0.66 . 0.51 rs545500 COSM3752638;COSM3752637 1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.087 0.348 T 0.678 0.394 P 0.098 0.289 B 0.272 0.151 N 1 0.090 P 1.79 0.469 L 2.47 0.231 T -0.87 0.236 N 0.434 0.489 -0.973 0.365 T 0.000 0.000 T . . . 1.935 0.293 15.80 0.974 0.333 0.203 0.208 N c -0.823 -0.908 1.000 0.458 0.722 0.854 0 -1.98 0.070 0.027 0.134 -0.216 0.099 0.000 0.063 0.337 0.244 10.130 0.417 . ENSG00000172803.13|ENSG00000172543.3|ENSG00000172543.3|ENSG00000175334.3|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172803.13|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172543.3|ENSG00000172803.13|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172500.8|ENSG00000172638.8|ENSG00000172803.13|ENSG00000172803.13|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172803.13|ENSG00000172500.8|ENSG00000172803.13|ENSG00000172757.8|ENSG00000172500.8|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172803.13|ENSG00000172803.13|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172500.8|ENSG00000172543.3|ENSG00000172500.8|ENSG00000172803.13|ENSG00000172500.8|ENSG00000172803.13|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172543.3|ENSG00000172500.8|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172543.3|ENSG00000172543.3|ENSG00000172803.13|ENSG00000172803.13|ENSG00000172543.3|ENSG00000175376.4|ENSG00000172543.3|ENSG00000172803.13|ENSG00000172543.3|ENSG00000172543.3|ENSG00000172803.13|ENSG00000172803.13|ENSG00000172543.3|ENSG00000213465.3|ENSG00000172803.13|ENSG00000172543.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5741 0.2491 0.3670 0.6343 0.3165 0.7022 0.6717 0.6155 0.6338 0.5303 0.2555 0.4017 0.6722 0.3077 0.7027 0.6738 0.6165 hom 2240.12 77 11 65629934 . G C 2240.12 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=29.09;VQSLOD=7.4524;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2273,177,0 11 65631167 65631167 C T exonic MUS81 synonymous SNV MUS81:NM_001350283:exon9:c.C936T:p.A312A,MUS81:NM_025128:exon9:c.C936T:p.A312A 0.43 0.2 0.41 0.33 0.67 0.6 0.5789 0.2547 0.3569 0.3263 0.7055 0.6734 0.6435 0.6346 0.53 0.26 0.67 0.41 0.68 rs648732 COSM3752639;COSM3752640 1(prostate);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5760 0.2509 0.3696 0.6344 0.3192 0.7037 0.6737 0.6161 0.6342 0.5327 0.2562 0.3998 0.6722 0.3105 0.7029 0.6772 0.6145 hom 1678.61 49 11 65631167 . C T 1678.61 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;QD=34.26;VQSLOD=10.0198;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1712,135,0 11 65631973 65631973 G A exonic MUS81 synonymous SNV MUS81:NM_001350283:exon11:c.G1068A:p.R356R,MUS81:NM_025128:exon11:c.G1065A:p.R355R 0.43 0.21 0.41 0.33 0.67 0.6 0.5793 0.2573 0.3574 0.3273 0.7039 0.6734 0.6424 0.6349 0.53 0.26 0.67 0.41 0.68 rs630303 COSM3752643;COSM1179750 1(breast);1(prostate);1(upper_aerodigestive_tract);2(large_intestine) Benign not_specified RCV000455007.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5762 0.2532 0.3700 0.6344 0.3190 0.7037 0.6736 0.6158 0.6343 0.5330 0.2591 0.4007 0.6722 0.3088 0.7029 0.6761 0.6158 hom 2981.03 99 11 65631973 . G A 2981.03 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.87;MQ0=0;QD=30.11;VQSLOD=9.0587;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3014,247,0 11 65632262 65632262 G T exonic MUS81 synonymous SNV MUS81:NM_001350283:exon12:c.G1251T:p.T417T,MUS81:NM_025128:exon12:c.G1248T:p.T416T 0.43 0.2 0.41 0.33 0.67 0.6 0.5789 0.2566 0.3559 0.3250 0.7030 0.6731 0.6427 0.6350 0.53 0.26 0.67 0.41 0.68 rs558114 . . Benign not_specified RCV000455656.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5756 0.2502 0.3693 0.6342 0.3186 0.7042 0.6736 0.6164 0.6343 0.5323 0.2571 0.4017 0.6722 0.3093 0.7030 0.6762 0.6111 hom 1809.93 59 11 65632262 . G T 1809.93 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.615;DP=59;Dels=0.00;FS=5.667;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;MQRankSum=0.793;QD=30.68;ReadPosRankSum=-1.615;VQSLOD=3.7821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,58:59:99:1843,125,0 11 65636053 65636053 T C exonic EFEMP2 nonsynonymous SNV EFEMP2:NM_016938:exon8:c.A775G:p.I259V 0.89 0.62 0.96 1. 1. 1. 0.9695 0.6773 0.9842 1 0.9997 0.9981 0.9868 0.9985 0.89 0.69 1. 0.86 0.98 rs601314 . . Benign|Benign|Benign Autosomal_recessive_cutis_laxa_type_IA|not_specified|Cutis_laxa\x2c_recessive RCV000032273.1|RCV000155538.3|RCV000378680.1 MedGen:OMIM|MedGen|MedGen CN033664:219100|CN169374|C2931134 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.018 0.276 N 1.000 0.090 P -0.375 0.030 N -1.1 0.868 T 0.68 0.022 N 0.045 0.025 -0.945 0.418 T 0.000 0.000 T . . . -0.399 0.062 0.390 0.765 0.111 0.078 0.136 N c -1.260 -1.060 1.000 0.747 0.672 0.522 0 1.9 0.247 0.137 0.157 -0.326 0.075 0.003 0.159 0.929 0.403 3.603 0.075 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain . . 0.9755 0.6712 0.9814 0.9986 0.9999 0.9996 0.9981 0.9829 0.9988 0.9060 0.6746 0.9749 0.9967 0.9994 1 0.9976 0.9878 hom 3736.01 116 11 65636053 . T C 3736.01 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6714;MQ=58.60;MQ0=0;QD=32.21;VQSLOD=8.6660;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3735,334,0 11 65638719 65638719 G A exonic EFEMP2 synonymous SNV EFEMP2:NM_016938:exon4:c.C276T:p.H92H 0.32 0.095 0.31 0.23 0.5 0.54 0.4503 0.1534 0.2736 0.2015 0.5699 0.5165 0.5154 0.5716 0.4 0.16 0.52 0.24 0.47 rs633800 COSM3752644 1(large_intestine) Benign|Benign not_specified|Cutis_laxa\x2c_recessive RCV000150612.3|RCV000375568.1 MedGen|MedGen CN169374|C2931134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4492 0.1508 0.2844 0.4895 0.1974 0.5700 0.5169 0.4767 0.5679 0.4050 0.1610 0.3007 0.5232 0.1981 0.5700 0.5298 0.4785 het 2078.73 160 11 65638719 . G A 2078.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.810;DP=160;Dels=0.00;FS=4.050;HRun=0;HaplotypeScore=8.8285;MQ=59.57;MQ0=0;MQRankSum=0.462;QD=12.99;ReadPosRankSum=0.594;VQSLOD=4.5924;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,82:160:99:2109,0,1752 11 65649774 65649774 A G exonic CTSW nonsynonymous SNV CTSW:NM_001335:exon4:c.A415G:p.S139G 0.93 0.75 0.96 1. 1. 1. 0.9798 0.7868 0.9902 0.9998 0.9997 0.9985 0.9923 0.9993 0.93 0.81 1. 0.9 0.95 rs604630 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.530 0.052 N 1 0.090 P -1.7 0.004 N 1.93 0.229 T 3.1 0.001 N 0.041 0.256 -0.930 0.441 T 0.000 0.000 T . . . -2.283 0.005 0.001 0.339 0.020 0.002 0.009 N c -1.905 -1.816 0.990 0.321 0.498 0.195 0 -1.7 0.077 -0.913 0.041 -1.412 0.012 0.000 0.063 0.000 0.016 1.071 0.015 Peptidase C1A\x2c papain C-terminal ENSG00000172543.3 Whole_Blood 0.9837 0.7801 0.9886 0.9987 0.9999 0.9996 0.9986 0.9878 0.9995 0.9357 0.7765 0.9773 0.9967 1 1 0.9987 0.9959 hom 3194.25 114 11 65649774 . A G 3194.25 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7781;MQ=59.23;MQ0=0;QD=28.02;VQSLOD=8.4606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3227,262,0 11 65649984 65649984 T C exonic CTSW synonymous SNV CTSW:NM_001335:exon5:c.T525C:p.D175D 0.7 0.49 0.78 0.59 0.81 0.9 0.7881 0.5501 0.8439 0.5810 0.8394 0.8123 0.8029 0.8879 0.72 0.57 0.81 0.77 0.84 rs687672 COSM3752645 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7942 0.5425 0.8373 0.8453 0.5743 0.8396 0.8087 0.8122 0.8903 0.7238 0.5427 0.8062 0.85 0.5630 0.8415 0.8066 0.8047 hom 3439.38 115 11 65649984 . T C 3439.38 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=29.91;VQSLOD=8.8832;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3439,280,0 11 65685225 65685225 T C exonic C11orf68 nonsynonymous SNV C11orf68:NM_001135635:exon2:c.A587G:p.Q196R,C11orf68:NM_031450:exon2:c.A584G:p.Q195R 0.9 0.66 0.95 1. 0.98 0.99 0.9611 0.6800 0.9726 1 0.9967 0.9865 0.9710 0.9916 0.89 0.69 0.98 0.8 0.93 rs7947504 . . . . . . . . . . . . . 1.0 0.020 T 0.0 0.026 B 0.001 0.040 B 0.026 0.260 N 1 0.090 P 0.255 0.098 N 1.02 0.407 T -0.37 0.166 N 0.003 0.000 -0.889 0.490 T 0.000 0.000 T . . . -1.400 0.019 0.003 0.486 0.040 0.034 0.083 N c -2.013 -1.998 1.000 0.747 0.635 0.413 0 -6.16 0.019 -0.805 0.046 -2.576 0.002 0.003 0.159 0.215 0.221 15.711 0.773 . . . 0.9671 0.6766 0.9706 0.9968 0.9999 0.9962 0.9856 0.9722 0.9910 0.9000 0.6769 0.9678 0.9901 0.9994 0.9966 0.9855 0.9796 hom 1837.79 61 11 65685225 . T C 1837.79 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.01;MQ0=0;QD=30.13;VQSLOD=8.1910;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1871,162,0 11 65713207 65713207 T C exonic TSGA10IP unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9984 0.9822 0.9990 1 1 0.9999 0.9989 1 1. 1. 1. 1. . rs9795469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9811 0.9988 1 1 1.0000 0.9999 0.9995 1.0000 0.9950 0.9827 0.9988 1 1 1 0.9998 1 hom 2103.91 67 11 65713207 . T C 2103.91 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;QD=31.40;VQSLOD=8.4115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2137,174,0 11 65733393 65733393 C T exonic SART1 synonymous SNV SART1:NM_005146:exon7:c.C774T:p.T258T 0.38 0.27 0.32 0.22 0.53 0.56 0.4671 0.3002 0.2612 0.2139 0.5825 0.5282 0.5243 0.5530 0.45 0.31 0.52 0.34 0.5 rs688862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4622 0.2956 0.2740 0.5107 0.2190 0.5796 0.5255 0.4776 0.5537 0.4546 0.3113 0.3161 0.5430 0.2314 0.5750 0.5371 0.4969 hom 4327.50 138 11 65733393 . C T 4327.50 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3630;MQ=59.73;MQ0=0;QD=31.36;VQSLOD=8.2091;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4327,334,0 11 65788072 65788072 C T exonic CATSPER1 nonsynonymous SNV CATSPER1:NM_053054:exon7:c.G1954A:p.V652I 0.94 0.86 0.98 0.89 1. 1. 0.9796 0.8845 0.9804 0.8919 1 0.9996 0.9918 0.9961 0.96 0.89 1. 0.92 0.98 rs3814747 . . Benign Male_infertility RCV000327337.1 MedGen:SNOMED_CT C0021364:2904007 . . . . . . 0.641 0.050 T 0.147 0.262 B 0.02 0.179 B 0.160 0.177 N 1.000 0.090 P 0.8 0.197 N -5.0 0.985 D 0.08 0.060 N 0.08 0.072 -0.941 0.426 T 0.000 0.000 T . . . 2.805 0.398 21.4 0.925 0.213 0.006 0.026 N c -0.691 -0.518 1.000 0.747 0.601 0.348 0 3.54 0.395 1.334 0.332 0.154 0.240 1.000 0.715 0.891 0.375 6.534 0.214 Ion transport domain . . 0.9814 0.8819 0.9792 0.9997 0.8919 1 0.9995 0.9908 0.9967 0.9608 0.8838 0.9916 1 0.8870 1 0.9997 0.9949 hom 557.37 17 11 65788072 . C T 557.37 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.79;VQSLOD=14.3813;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:590,48,0 11 65793454 65793454 C T exonic CATSPER1 nonsynonymous SNV CATSPER1:NM_053054:exon1:c.G397A:p.G133S 0.34 0.45 0.46 0.39 0.28 0.098 0.3048 0.4370 0.5104 0.4267 0.3067 0.2795 0.2777 0.1174 0.33 0.44 0.28 0.33 0.29 rs1203998 COSM5004006 1(pancreas) Likely benign Male_infertility RCV000336494.1 MedGen:SNOMED_CT C0021364:2904007 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.675 0.061 N 1 0.090 P -0.64 0.021 N -4.06 0.965 D 0.28 0.042 N 0.032 0.012 -1.043 0.165 T 0.000 0.000 T . . . 0.005 0.094 2.637 0.362 0.023 0.001 0.004 N c -1.902 -1.884 0.766 0.236 0.497 0.185 0 -3.4 0.045 -3.964 0.004 -0.799 0.032 0.000 0.063 0.000 0.016 6.871 0.232 . ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000087365.10|ENSG00000175294.5|ENSG00000087365.10|ENSG00000173327.3|ENSG00000087365.10 Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.3119 0.4426 0.5001 0.2134 0.4274 0.3176 0.2810 0.2942 0.1194 0.3452 0.4308 0.4725 0.2053 0.4284 0.3250 0.2888 0.3147 hom 3282.08 93 11 65793454 . C T 3282.08 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=35.29;VQSLOD=9.4634;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3282,256,0 11 65793797 65793797 G A exonic CATSPER1 synonymous SNV CATSPER1:NM_053054:exon1:c.C54T:p.N18N 0.17 0.011 0.39 0.23 0.24 0.073 0.2316 0.0462 0.4559 0.2275 0.2914 0.2494 0.2390 0.0974 0.18 0.054 0.24 0.11 0.24 rs1893316 COSM3998541 2(haematopoietic_and_lymphoid_tissue);1(thyroid) Likely benign Male_infertility RCV000309609.1 MedGen:SNOMED_CT C0021364:2904007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2456 0.0453 0.4457 0.1966 0.2268 0.3012 0.2494 0.2470 0.0993 0.2080 0.0498 0.4189 0.1967 0.2268 0.3104 0.2584 0.2729 hom 7507.03 245 11 65793797 . G A 7507.03 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.562;DP=245;DS;Dels=0.00;FS=3.788;HRun=0;HaplotypeScore=3.8624;MQ=59.79;MQ0=0;MQRankSum=-1.107;QD=30.64;ReadPosRankSum=-1.107;VQSLOD=4.1314;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,243:245:99:7475,558,0 11 65810749 65810749 T C exonic GAL3ST3 synonymous SNV GAL3ST3:NM_033036:exon3:c.A525G:p.V175V 0.94 0.86 0.98 0.88 1. 1. 0.9798 0.8890 0.9806 0.8860 1 0.9995 0.9943 0.9961 0.96 0.89 1. 0.74 0.89 rs7937692 COSM3749182 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9812 0.8852 0.9797 0.9996 0.8863 0.9998 0.9995 0.9911 0.9964 0.9615 0.8867 0.9904 1 0.8858 1 0.9997 0.9939 hom 1180.16 36 11 65810749 . T C 1180.16 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=32.78;VQSLOD=9.7790;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.29:1213,93,0 11 65826704 65826704 G A exonic SF3B2 synonymous SNV SF3B2:NM_006842:exon11:c.G1215A:p.K405K 0.2 0.12 0.4 0.23 0.24 0.073 0.2408 0.1332 0.4665 0.2290 0.2914 0.2507 0.24 0.0975 0.21 0.14 0.24 0.15 0.23 rs1049872 COSM5483290 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2529 0.1331 0.4547 0.1949 0.2271 0.3013 0.2505 0.2538 0.0992 0.2330 0.1322 0.4270 0.1921 0.2301 0.3091 0.2612 0.2807 hom 1283.49 40 11 65826704 . G A 1283.49 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;QD=32.09;VQSLOD=8.3414;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1316,102,0 11 66031660 66031660 C T exonic KLC2 synonymous SNV KLC2:NM_001134774:exon7:c.C855T:p.D285D,KLC2:NM_001134775:exon8:c.C1086T:p.D362D,KLC2:NM_001134776:exon8:c.C1086T:p.D362D,KLC2:NM_001318734:exon8:c.C1086T:p.D362D,KLC2:NM_022822:exon8:c.C1086T:p.D362D 0.33 0.2 0.51 0.25 0.48 0.31 0.4465 0.2712 0.5626 0.3190 0.5561 0.5112 0.4545 0.3588 0.39 0.25 0.46 0.32 0.31 rs1151539 COSM3765586 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4315 0.2298 0.5254 0.4561 0.2496 0.5144 0.4669 0.4352 0.3382 0.4084 0.2479 0.5360 0.4437 0.2463 0.5307 0.4799 0.4560 hom 689.40 21 11 66031660 . C T 689.40 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.99;MQ0=0;QD=32.83;VQSLOD=9.2349;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:63.17:722,63,0 11 66083129 66083129 T C exonic CD248 nonsynonymous SNV CD248:NM_020404:exon1:c.A1370G:p.H457R 0.29 0.17 0.55 0.21 0.44 0.2 0.3995 0.2178 0.5803 0.1896 0.5183 0.4505 0.4227 0.2423 0.38 0.23 0.45 0.27 0.42 rs3741367 COSM3752657 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.146 0.181 N 1 0.090 P -0.675 0.020 N -1.93 0.849 D 1.09 0.013 N 0.044 0.024 -0.993 0.319 T 0.000 0.000 T . . . -2.650 0.002 0.001 0.502 0.043 0.006 0.026 N c -1.558 -1.487 1.000 0.462 0.706 0.609 0 1.57 0.224 0.663 0.246 -0.324 0.076 0.603 0.275 0.606 0.290 6.626 0.219 . ENSG00000254458.1|ENSG00000254458.1|ENSG00000255517.2 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.4104 0.2175 0.5654 0.4490 0.1823 0.5138 0.4482 0.4165 0.2400 0.3818 0.2204 0.5131 0.4 0.1772 0.5253 0.4537 0.4246 het 1502.59 107 11 66083129 . T C 1502.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.485;DP=107;Dels=0.00;FS=2.629;HRun=0;HaplotypeScore=0.9832;MQ=59.57;MQ0=0;MQRankSum=-0.187;QD=14.04;ReadPosRankSum=1.317;VQSLOD=6.5391;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,59:107:99:1533,0,1193 11 66083782 66083782 G A exonic CD248 synonymous SNV CD248:NM_020404:exon1:c.C717T:p.N239N 0.26 0.038 0.53 0.23 0.45 0.19 0.3889 0.0934 0.5754 0.2032 0.5228 0.4510 0.4118 0.2248 0.33 0.1 0.45 0.2 0.4 rs3741368 COSM429643 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3980 0.0873 0.5586 0.4355 0.1941 0.5143 0.4457 0.4087 0.2223 0.3430 0.0921 0.5084 0.4040 0.1905 0.5247 0.4483 0.4129 het 867.17 57 11 66083782 . G A 867.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.074;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.60;MQ0=0;MQRankSum=0.610;QD=15.21;ReadPosRankSum=0.968;VQSLOD=6.7833;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,34:57:99:897,0,575 11 66100152 66100152 T C exonic RIN1 synonymous SNV RIN1:NM_004292:exon10:c.A1947G:p.E649E 0.97 0.89 0.99 1. 1. 1. 0.9910 0.9071 0.9968 1 1 0.9996 0.9939 0.9996 0.97 0.91 1. 0.94 0.9 rs1784030 COSM4146153;COSM4146154 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9926 0.9083 0.9961 1 1 1 0.9996 0.9938 0.9997 0.9718 0.9020 0.9928 1 1 1 0.9996 0.9949 hom 4489.75 137 11 66100152 . T C 4489.75 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.0616;MQ=59.32;MQ0=0;QD=32.77;VQSLOD=8.1767;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4489,355,0 11 66105194 66105194 G A exonic BRMS1 nonsynonymous SNV BRMS1:NM_001024957:exon10:c.C818T:p.A273V 0.27 0.034 0.22 0.33 0.27 0.55 0.3557 0.0956 0.3298 0.3732 0.2957 0.3430 0.3521 0.5503 0.22 0.081 0.3 0.26 . rs1052566 COSM3720988 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . . . . -0.21 0.103 N 0.009 0.179 -0.930 0.441 T 0.000 0.000 T . . . 0.709 0.162 8.885 0.771 0.114 0.023 0.066 N c -1.470 -1.503 1.000 0.747 0.742 0.980 0 -4.24 0.035 -1.461 0.025 -1.751 0.007 0.000 0.063 0.094 0.187 4.699 0.121 . ENSG00000254986.3|ENSG00000248746.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000254986.3|ENSG00000248746.1|ENSG00000250105.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000250105.1|ENSG00000248746.1|ENSG00000269990.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Testis|Testis|Thyroid 0.3009 0.0714 0.2521 0.2407 0.3180 0.2384 0.2990 0.3069 0.5250 0.2219 0.0717 0.2787 0.2351 0.3251 0.2259 0.2899 0.2859 het 163.89 19 11 66105194 . G A 163.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.310;DP=19;Dels=0.00;FS=2.935;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.972;QD=8.63;ReadPosRankSum=-0.803;VQSLOD=5.3704;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:194,0,381 11 66107674 66107674 A G exonic BRMS1 synonymous SNV BRMS1:NM_001024957:exon7:c.T546C:p.D182D,BRMS1:NM_015399:exon7:c.T546C:p.D182D 0.97 0.89 0.98 1. 1. 1. 0.9912 0.9052 0.9962 1 1 0.9996 0.9945 0.9998 0.97 0.91 1. 0.94 1. rs1784035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9931 0.9050 0.9957 1 0.9999 1 0.9995 0.9945 0.9998 0.9712 0.8998 0.9928 1 1 1 0.9995 0.9949 hom 2037.58 73 11 66107674 . A G 2037.58 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=27.91;VQSLOD=7.8867;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2071,159,0 11 66188761 66188761 G T exonic NPAS4 synonymous SNV NPAS4:NM_178864:exon1:c.G111T:p.L37L 0.17 0.02 0.4 0.17 0.22 0.16 0.2208 0.0464 0.4829 0.1296 0.3029 0.2173 0.2322 0.1750 0.16 0.051 0.22 0.15 0.22 rs77600363 COSM4415791 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2359 0.0433 0.4628 0.1592 0.1319 0.3015 0.2214 0.2283 0.1724 0.1957 0.0449 0.3789 0.1457 0.1208 0.3150 0.2519 0.2393 het 1083.73 92 11 66188761 . G T 1083.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.646;DP=92;Dels=0.00;FS=5.621;HRun=1;HaplotypeScore=2.9557;MQ=59.70;MQ0=0;MQRankSum=0.317;QD=11.78;ReadPosRankSum=-1.384;VQSLOD=4.3520;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,42:92:99:1114,0,1288 11 66240882 66240882 T C exonic PELI3 synonymous SNV PELI3:NM_001243136:exon4:c.T306C:p.D102D,PELI3:NM_001098510:exon5:c.T555C:p.D185D,PELI3:NM_001243135:exon5:c.T438C:p.D146D,PELI3:NM_145065:exon6:c.T627C:p.D209D 0.27 0.36 0.18 0.29 0.24 0.19 0.2444 0.3379 0.1410 0.2567 0.3943 0.2407 0.2591 0.2050 0.27 0.33 0.23 0.24 0.23 rs2277302 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2398 0.3382 0.1514 0.1654 0.2600 0.3864 0.2409 0.2152 0.1951 0.3013 0.3364 0.1531 0.1689 0.2407 0.3934 0.2777 0.2894 het 665.05 56 11 66240882 . T C 665.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.466;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.533;QD=11.88;ReadPosRankSum=0.172;VQSLOD=6.9866;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,28:56:99:695,0,756 11 66254085 66254085 G T exonic DPP3 nonsynonymous SNV DPP3:NM_001256670:exon3:c.G345T:p.Q115H,DPP3:NM_005700:exon4:c.G435T:p.Q145H,DPP3:NM_130443:exon4:c.G435T:p.Q145H 0.22 0.19 0.16 0.29 0.24 0.19 0.2268 0.1723 0.1331 0.2554 0.3836 0.2382 0.2494 0.2008 0.21 0.17 0.23 0.22 0.2 rs11550299 COSM147273 1(stomach);5(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 0.097 0.310 T 0.001 0.067 B 0.011 0.145 B 0.022 0.267 N 0.970 0.286 P 1.15 0.294 L 1.93 0.229 T -0.85 0.307 N 0.101 0.540 -1.000 0.300 T 0.000 0.000 T . . . 1.646 0.259 14.10 0.968 0.308 0.624 0.315 D c -0.326 -0.176 0.900 0.260 0.707 0.730 0 4.04 0.461 0.525 0.225 0.949 0.536 0.935 0.322 0.920 0.395 6.300 0.202 . ENSG00000254986.3|ENSG00000254986.3|ENSG00000254986.3|ENSG00000254986.3|ENSG00000269990.1|ENSG00000269990.1|ENSG00000269990.1|ENSG00000254986.3|ENSG00000255517.2|ENSG00000254986.3|ENSG00000255517.2|ENSG00000255517.2|ENSG00000254986.3|ENSG00000255517.2|ENSG00000254986.3|ENSG00000250105.1|ENSG00000248746.1|ENSG00000255517.2|ENSG00000269990.1|ENSG00000254986.3|ENSG00000255517.2|ENSG00000254986.3|ENSG00000255517.2|ENSG00000254986.3|ENSG00000255517.2|ENSG00000254986.3|ENSG00000254986.3|ENSG00000255517.2|ENSG00000250105.1|ENSG00000255517.2|ENSG00000254986.3|ENSG00000255517.2|ENSG00000174516.10|ENSG00000254986.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.2236 0.1654 0.1345 0.1618 0.2417 0.3847 0.2355 0.2053 0.1899 0.2542 0.1747 0.1408 0.1689 0.2410 0.3925 0.2765 0.2732 het 1286.38 111 11 66254085 . G T 1286.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.003;DP=111;Dels=0.00;FS=1.599;HRun=0;HaplotypeScore=5.8915;MQ=59.27;MQ0=0;MQRankSum=0.127;QD=11.59;ReadPosRankSum=-0.623;VQSLOD=5.1708;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,53:111:99:1316,0,1638 11 66272142 66272142 A G exonic DPP3 synonymous SNV DPP3:NM_001256670:exon16:c.A1848G:p.T616T,DPP3:NM_005700:exon17:c.A1938G:p.T646T,DPP3:NM_130443:exon17:c.A1938G:p.T646T 0.61 0.92 0.45 0.55 0.61 0.4 0.5705 0.8610 0.3357 0.5321 0.6545 0.6030 0.5936 0.4055 0.68 0.85 0.59 0.65 0.69 rs1671063 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5597 0.8616 0.3523 0.6130 0.5337 0.6551 0.6036 0.5647 0.4038 0.6837 0.8611 0.3864 0.6567 0.5205 0.6660 0.6229 0.6283 het 1427.52 112 11 66272142 . A G 1427.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.177;DP=112;Dels=0.00;FS=3.536;HRun=1;HaplotypeScore=1.7323;MQ=59.46;MQ0=0;MQRankSum=1.773;QD=12.75;ReadPosRankSum=-0.392;VQSLOD=5.8948;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,57:112:99:1458,0,1483 11 66272237 66272237 G A exonic DPP3 nonsynonymous SNV DPP3:NM_001256670:exon16:c.G1943A:p.R648H,DPP3:NM_005700:exon17:c.G2033A:p.R678H,DPP3:NM_130443:exon17:c.G2033A:p.R678H 0.21 0.15 0.16 0.3 0.24 0.21 0.2251 0.1342 0.1306 0.2656 0.3795 0.2358 0.2494 0.2208 0.2 0.13 0.23 0.21 0.23 rs2305535 COSM3998543 5(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.545 0.067 T 0.002 0.090 B 0.003 0.080 B 0.018 0.275 N 1.000 0.205 P 1.905 0.510 L 1.93 0.229 T -0.92 0.247 N 0.088 0.536 -1.006 0.281 T 0.000 0.000 T . . . 2.964 0.417 22.1 0.874 0.166 0.810 0.402 D c -0.376 -0.172 0.006 0.112 0.707 0.730 0 4.52 0.546 1.996 0.402 1.048 0.713 0.996 0.391 1.000 0.888 12.103 0.529 . ENSG00000254986.3|ENSG00000254986.3|ENSG00000254986.3|ENSG00000269990.1|ENSG00000174165.3|ENSG00000255517.2|ENSG00000255517.2|ENSG00000255517.2|ENSG00000254986.3|ENSG00000254986.3|ENSG00000250105.1|ENSG00000248746.1|ENSG00000255517.2|ENSG00000269990.1|ENSG00000254986.3|ENSG00000254986.3|ENSG00000255517.2|ENSG00000255517.2|ENSG00000254986.3|ENSG00000254986.3|ENSG00000255517.2|ENSG00000250105.1|ENSG00000255517.2|ENSG00000254986.3|ENSG00000255517.2|ENSG00000174516.10|ENSG00000254986.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.2247 0.1290 0.1388 0.1682 0.2664 0.3817 0.2366 0.2045 0.2062 0.2413 0.1303 0.1364 0.1722 0.2537 0.3881 0.2753 0.2782 het 1333.87 104 11 66272237 . G A 1333.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.992;DP=104;Dels=0.00;FS=3.812;HRun=0;HaplotypeScore=0.9947;MQ=59.64;MQ0=0;MQRankSum=-1.163;QD=12.83;ReadPosRankSum=-0.914;VQSLOD=6.0448;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,57:104:99:1364,0,1202 11 66282095 66282095 G A exonic BBS1 synonymous SNV BBS1:NM_024649:exon4:c.G378A:p.L126L 0.21 0.15 0.16 0.3 0.24 0.21 0.2233 0.1340 0.1307 0.2654 0.3800 0.2348 0.2445 0.2119 0.2 0.13 0.23 0.21 0.22 rs2298806 COSM147274;COSM3998544 1(stomach);4(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign|Benign not_specified|Bardet-Biedl_syndrome RCV000247494.1|RCV000262515.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0752166:209900:ORPHA110:5619004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2252 0.1293 0.1402 0.1684 0.2685 0.3801 0.2374 0.2066 0.2089 0.2419 0.1312 0.1360 0.1722 0.2516 0.3873 0.2764 0.2786 het 2230.43 198 11 66282095 . G A 2230.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.073;DP=198;Dels=0.00;FS=8.307;HRun=0;HaplotypeScore=4.8270;MQ=58.67;MQ0=0;MQRankSum=-1.327;QD=11.26;ReadPosRankSum=-0.105;VQSLOD=4.1052;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:102,94:198:99:2260,0,2919 11 66297363 66297363 C T exonic BBS1 synonymous SNV BBS1:NM_024649:exon14:c.C1413T:p.L471L 0.14 0.014 0.14 0.15 0.24 0.21 0.2089 0.0430 0.1298 0.1252 0.4004 0.2402 0.2400 0.2105 0.17 0.048 0.23 0.13 0.2 rs3816492 COSM3752662;COSM3752663 2(large_intestine) Benign|Benign not_specified|Bardet-Biedl_syndrome RCV000243070.1|RCV000369667.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0752166:209900:ORPHA110:5619004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2046 0.0366 0.1333 0.1679 0.1248 0.3857 0.2376 0.1977 0.2022 0.2081 0.0397 0.1313 0.1722 0.1120 0.3873 0.2759 0.2684 het 457.49 40 11 66297363 . C T 457.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.064;DP=40;Dels=0.00;FS=2.817;HRun=1;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=0.639;QD=11.44;ReadPosRankSum=2.596;VQSLOD=5.4480;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,18:40:99:487,0,543 11 66313203 66313203 T C exonic ZDHHC24 nonsynonymous SNV ZDHHC24:NM_001348571:exon1:c.A272G:p.Q91R,ZDHHC24:NM_207340:exon1:c.A272G:p.Q91R 0.23 0.19 0.17 0.32 0.24 0.22 0.3281 0.2902 0.2256 0.3657 0.4796 0.3421 0.3083 0.2916 0.17 0.13 0.18 0.12 0.049 rs2305534 COSM3752666 1(large_intestine) . . . . . . . . . . . 0.184 0.216 T 0.129 0.378 B 0.103 0.435 B 0.000 0.513 N 0.003 0.434 P 1.57 0.397 L 0.27 0.592 T -0.44 0.178 N 0.058 0.052 -1.023 0.228 T 0.000 0.000 T . . . 0.738 0.164 9.071 0.965 0.293 0.207 0.209 N c -0.322 -0.190 1.000 0.747 0.442 0.072 0 2.62 0.302 1.725 0.375 0.964 0.580 1.000 0.715 1.000 0.888 5.862 0.179 . ENSG00000254986.3|ENSG00000254986.3|ENSG00000174165.3|ENSG00000254986.3|ENSG00000254986.3|ENSG00000269990.1|ENSG00000174165.3|ENSG00000255517.2|ENSG00000255517.2|ENSG00000254986.3|ENSG00000254986.3|ENSG00000250105.1|ENSG00000248746.1|ENSG00000255517.2|ENSG00000269990.1|ENSG00000254986.3|ENSG00000255517.2|ENSG00000254986.3|ENSG00000255517.2|ENSG00000254986.3|ENSG00000255517.2|ENSG00000254986.3|ENSG00000254986.3|ENSG00000255517.2|ENSG00000250105.1|ENSG00000255517.2|ENSG00000254986.3|ENSG00000255517.2|ENSG00000174516.10|ENSG00000254986.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.2168 0.1733 0.1345 0.1630 0.2754 0.3561 0.2304 0.1940 0.2030 0.2607 0.1844 0.1388 0.1755 0.2872 0.3881 0.2799 0.2813 hom 314.22 10 11 66313203 . T C 314.22 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.42;VQSLOD=13.4760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:347,30,0 11 66327673 66327673 G A exonic ACTN3 unknown UNKNOWN 0.59 0.84 0.42 0.56 0.56 0.41 0.5918 0.8137 0.4120 0.5984 0.7368 0.6020 0.6081 0.4651 0.63 0.79 0.55 0.56 . rs1671064 COSN17008421 1(prostate) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.137 0.159 . . . . . . . . . 1.411 0.233 12.85 0.684 0.084 0.076 0.134 N n 1.518 1.663 0.996 0.344 0.253 0.035 0 4.76 0.600 7.517 0.805 0.241 0.266 1.000 0.715 0.974 0.471 8.714 0.334 . ENSG00000269990.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000174080.6|ENSG00000248746.1|ENSG00000174080.6|ENSG00000248746.1|ENSG00000250105.1|ENSG00000250105.1|ENSG00000250105.1|ENSG00000250105.1|ENSG00000248746.1|ENSG00000173992.4|ENSG00000255517.2|ENSG00000174080.6|ENSG00000248746.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000255517.2|ENSG00000269990.1|ENSG00000254986.3|ENSG00000174080.6|ENSG00000248746.1|ENSG00000248746.1|ENSG00000174080.6|ENSG00000250105.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000255517.2|ENSG00000173992.4|ENSG00000250105.1|ENSG00000248746.1|ENSG00000255517.2|ENSG00000174080.6|ENSG00000269990.1|ENSG00000254986.3|ENSG00000248746.1|ENSG00000255517.2|ENSG00000174080.6|ENSG00000173992.4|ENSG00000254986.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.5347 0.8017 0.3296 0.5607 0.5559 0.6831 0.5595 0.5305 0.4214 0.6502 0.8015 0.3616 0.6060 0.5474 0.6921 0.5836 0.5990 hom 695.94 23 11 66327673 . G A 695.94 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=30.26;VQSLOD=8.8779;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.18:729,57,0 11 66328055 66328055 A G exonic ACTN3 unknown UNKNOWN 0.16 0.17 0.1 0.18 0.17 0.17 0.1625 0.1493 0.0747 0.1774 0.2205 0.1665 0.1593 0.1878 0.16 0.14 0.17 0.17 . rs2229455 COSN15314307;COSN8863539 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1594 0.1479 0.0804 0.1456 0.1756 0.2113 0.1711 0.1370 0.1722 0.1740 0.1463 0.0776 0.1391 0.1782 0.2192 0.1859 0.1650 het 816.17 71 11 66328055 . A G 816.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.553;DP=71;Dels=0.00;FS=7.805;HRun=1;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=0.237;QD=11.50;ReadPosRankSum=-0.664;VQSLOD=4.7424;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,32:71:99:846,0,1108 11 66328095 66328095 T C exonic ACTN3 unknown UNKNOWN 0.6 0.89 0.43 0.56 0.57 0.41 0.5480 0.8328 0.3182 0.5510 0.6849 0.5631 0.5781 0.4203 0.64 0.82 0.55 0.64 . rs1815739 . . Benign|Pathogenic|other ACTININ\x2c_ALPHA-3_POLYMORPHISM|ACTN3_deficiency|Sprinting_performance RCV000019974.2|RCV000019975.27|RCV000019976.27 MedGen|MedGen CN071807|C2319308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5394 0.8325 0.3336 0.5593 0.5529 0.6830 0.5621 0.5338 0.4199 0.6614 0.8321 0.3708 0.6033 0.5472 0.6946 0.5877 0.6033 hom 4301.95 122 11 66328095 . T C 4301.95 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6160;MQ=59.25;MQ0=0;QD=35.26;VQSLOD=6.7766;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4301,343,0 11 66328719 66328719 T C exonic ACTN3 unknown UNKNOWN 0.6 0.9 0.42 0.55 0.56 0.41 0.6075 0.8437 0.4384 0.6005 0.7152 0.6125 0.5911 0.4905 0.64 0.82 0.55 0.58 . rs618838 COSN19612494;COSN20404155 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.404 0.463 . . . . . . . . . 0.768 0.167 9.263 0.747 0.104 0.044 0.098 N n 1.209 0.964 0.562 0.214 0.257 0.036 0 4.64 0.572 0.358 0.198 0.069 0.176 0.025 0.199 0.997 0.653 5.937 0.183 . ENSG00000269990.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000174080.6|ENSG00000248746.1|ENSG00000174080.6|ENSG00000248746.1|ENSG00000250105.1|ENSG00000250105.1|ENSG00000250105.1|ENSG00000248746.1|ENSG00000173992.4|ENSG00000174080.6|ENSG00000248746.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000255517.2|ENSG00000254986.3|ENSG00000174080.6|ENSG00000248746.1|ENSG00000248746.1|ENSG00000250105.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000173992.4|ENSG00000250105.1|ENSG00000248746.1|ENSG00000174080.6|ENSG00000269990.1|ENSG00000254986.3|ENSG00000248746.1|ENSG00000174080.6|ENSG00000173992.4|ENSG00000254986.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5232 0.8326 0.3230 0.5477 0.5393 0.6710 0.5458 0.5171 0.4082 0.6603 0.8368 0.3612 0.6060 0.5453 0.6918 0.5842 0.6012 hom 442.12 15 11 66328719 . T C 442.12 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.45;MQ0=0;QD=29.47;VQSLOD=7.7233;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.11:475,39,0 11 66328741 66328741 A C exonic ACTN3 unknown UNKNOWN 0.16 0.17 0.11 0.18 0.17 0.17 0.1826 0.1656 0.1054 0.2002 0.2416 0.1843 0.1771 0.1996 0.16 0.13 0.17 0.15 . rs2229456 . . . . . . . . . . . . . . . . 0.989 0.609 D 0.977 0.722 D . . . . . . . . . . . . . . . 0.359 0.420 . . . . . . . . . 6.076 0.837 28.1 0.997 0.791 0.974 0.746 D n 1.846 1.070 1.000 0.747 0.257 0.036 0 4.64 0.572 7.313 0.781 1.199 0.960 1.000 0.715 0.998 0.697 12.056 0.526 . ENSG00000254986.3|ENSG00000250105.1|ENSG00000248746.1|ENSG00000254986.3|ENSG00000254986.3|ENSG00000255517.2|ENSG00000255517.2|ENSG00000250105.1|ENSG00000255517.2|ENSG00000213402.2|ENSG00000254986.3|ENSG00000174516.10|ENSG00000254986.3 Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1559 0.1493 0.0782 0.1420 0.1715 0.2080 0.1675 0.1334 0.1680 0.1763 0.1541 0.0764 0.14 0.1797 0.2196 0.1858 0.1653 het 228.22 22 11 66328741 . A C 228.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.681;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.95;MQ0=0;MQRankSum=-1.615;QD=10.37;ReadPosRankSum=-0.956;VQSLOD=5.7754;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,12:22:99:258,0,258 11 66329639 66329639 G A exonic ACTN3 unknown UNKNOWN 0.081 0.015 0.082 0.023 0.16 0.15 0.1236 0.0296 0.0635 0.0294 0.1690 0.1493 0.1289 0.1491 0.12 0.034 0.16 0.065 . rs77239910 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1261 0.0288 0.0682 0.1315 0.0298 0.1688 0.1575 0.1162 0.1468 0.1196 0.0332 0.0668 0.1291 0.0335 0.1745 0.1679 0.1404 het 1524.92 87 11 66329639 . G A 1524.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.657;DP=87;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;MQRankSum=1.493;QD=17.53;ReadPosRankSum=0.757;VQSLOD=4.9065;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,52:87:99:1555,0,1022 11 66329732 66329732 A G exonic ACTN3 unknown UNKNOWN 0.58 0.83 0.42 0.56 0.56 0.41 0.5418 0.7924 0.3146 0.5513 0.6813 0.5591 0.5770 0.4198 0.63 0.79 0.55 0.62 . rs540874 COSN19701456;COSN8863540 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.172 0.208 . . . . . . . . . 0.919 0.182 10.19 0.811 0.131 0.236 0.219 N n 1.578 0.879 0.999 0.395 0.257 0.036 0 5.67 0.876 3.674 0.541 0.138 0.222 1.000 0.715 0.976 0.476 12.668 0.560 EF-hand domain|EF-hand domain pair ENSG00000269990.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000174080.6|ENSG00000248746.1|ENSG00000174080.6|ENSG00000248746.1|ENSG00000250105.1|ENSG00000250105.1|ENSG00000250105.1|ENSG00000250105.1|ENSG00000248746.1|ENSG00000173992.4|ENSG00000255517.2|ENSG00000174080.6|ENSG00000248746.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000255517.2|ENSG00000269990.1|ENSG00000254986.3|ENSG00000174080.6|ENSG00000248746.1|ENSG00000248746.1|ENSG00000174080.6|ENSG00000250105.1|ENSG00000248746.1|ENSG00000248746.1|ENSG00000255517.2|ENSG00000173992.4|ENSG00000250105.1|ENSG00000248746.1|ENSG00000255517.2|ENSG00000174080.6|ENSG00000269990.1|ENSG00000254986.3|ENSG00000248746.1|ENSG00000255517.2|ENSG00000174080.6|ENSG00000173992.4|ENSG00000254986.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.5339 0.7925 0.3279 0.5618 0.5536 0.6795 0.5576 0.5312 0.4196 0.6492 0.7974 0.3608 0.6093 0.5506 0.6921 0.5834 0.6004 hom 7356.09 250 11 66329732 . A G 7356.09 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.9177;MQ=59.08;MQ0=0;QD=29.42;VQSLOD=7.4451;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7354,611,0 11 66331458 66331458 A G exonic CTSF synonymous SNV CTSF:NM_003793:exon13:c.T1401C:p.R467R 0.59 0.88 0.42 0.55 0.55 0.39 0.5300 0.8280 0.3104 0.5443 0.6365 0.5425 0.5572 0.3967 0.63 0.81 0.53 0.6 0.51 rs572846 COSM5452656 1(large_intestine) Benign not_specified RCV000249206.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5206 0.8282 0.3253 0.5449 0.5479 0.6353 0.5426 0.5185 0.3963 0.6428 0.8262 0.3568 0.5960 0.5452 0.6472 0.5661 0.5891 hom 1297.30 45 11 66331458 . A G 1297.30 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=28.83;VQSLOD=8.6985;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1330,108,0 11 66333598 66333598 C T exonic CTSF synonymous SNV CTSF:NM_003793:exon6:c.G762A:p.R254R 0.59 0.88 0.42 0.55 0.55 0.39 0.5308 0.8279 0.3115 0.5467 0.6348 0.5430 0.5563 0.3966 0.63 0.81 0.53 0.6 0.55 rs545009 COSM4146162 1(thyroid) Benign not_specified RCV000253688.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5213 0.8277 0.3261 0.5453 0.5488 0.6352 0.5434 0.5186 0.3963 0.6431 0.8247 0.3573 0.5960 0.5464 0.6472 0.5670 0.5902 hom 5434.03 173 11 66333598 . C T 5434.03 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.5810;MQ=59.29;MQ0=0;QD=31.41;VQSLOD=9.3038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5433,427,0 11 66335548 66335548 A G exonic CTSF synonymous SNV CTSF:NM_003793:exon2:c.T219C:p.G73G 0.58 0.88 0.41 0.54 0.54 0.39 0.4308 0.7628 0.1916 0.4275 0.4665 0.4637 0.4510 0.3389 . . . 0.42 0.12 rs1127894 COSM429664 3(breast);1(haematopoietic_and_lymphoid_tissue);1(stomach);1(lung);3(thyroid);2(upper_aerodigestive_tract);1(biliary_tract) Benign not_specified RCV000253775.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4671 0.7980 0.2803 0.5229 0.4956 0.5941 0.4902 0.4773 0.3556 0.6419 0.8260 0.3568 0.6014 0.5429 0.6424 0.5653 0.5856 hom 260.65 18 11 66335548 . A G 260.65 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=54.65;MQ0=0;QD=14.48;VQSLOD=4.6564;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:18:24.07:294,24,0 11 66373305 66373305 G A exonic CCS synonymous SNV CCS:NM_005125:exon8:c.G804A:p.A268A 0.079 0.0098 0.079 0.021 0.15 0.15 0.1370 0.0306 0.0747 0.0336 0.1918 0.1627 0.1548 0.1863 0.12 0.033 0.16 0.054 0.098 rs1127145 COSM429668 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1271 0.0271 0.0731 0.1338 0.0289 0.1706 0.1585 0.1239 0.1558 0.1188 0.0312 0.0656 0.1291 0.0309 0.1749 0.1676 0.1405 het 510 31 11 66373305 . G A 510 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.583;DP=31;Dels=0.00;FS=3.038;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.460;QD=16.45;ReadPosRankSum=2.662;VQSLOD=4.3567;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,18:31:99:540,0,392 11 66392880 66392880 C T exonic RBM14 synonymous SNV RBM14:NM_006328:exon2:c.C1533T:p.T511T 0.08 0.014 0.079 0.021 0.15 0.15 0.1234 0.0297 0.0627 0.0297 0.1686 0.1493 0.1297 0.1515 0.12 0.035 0.16 0.054 0.098 rs11550057 COSM3773608 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1257 0.0288 0.0678 0.1264 0.0288 0.1683 0.1568 0.1170 0.1487 0.1192 0.0333 0.0635 0.1291 0.0308 0.1753 0.1673 0.1424 het 718.34 69 11 66392880 . C T 718.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.254;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.06;MQ0=0;MQRankSum=-0.266;QD=10.41;ReadPosRankSum=0.685;VQSLOD=6.7527;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:748,0,1038 11 66458980 66458980 G A exonic SPTBN2 synonymous SNV SPTBN2:NM_006946:exon26:c.C5340T:p.N1780N 0.063 0.003 0.053 0.13 0.056 0.087 0.0659 0.0106 0.0519 0.1086 0.1362 0.0625 0.0932 0.0721 0.036 0.011 0.05 0.076 0.074 rs623022 . . Likely benign Spinocerebellar_Ataxia\x2c_Dominant RCV000319541.1 MedGen CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0652 0.0084 0.0544 0.0253 0.1129 0.1386 0.0572 0.0635 0.0696 0.0649 0.0077 0.0585 0.0265 0.0994 0.1455 0.0754 0.0867 het 565.10 57 11 66458980 . G A 565.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.611;DP=57;Dels=0.00;FS=5.393;HRun=0;HaplotypeScore=3.8380;MQ=59.34;MQ0=0;MQRankSum=-0.561;QD=9.91;ReadPosRankSum=-0.089;VQSLOD=4.6180;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,23:57:99:595,0,939 11 66460527 66460527 C T exonic SPTBN2 synonymous SNV SPTBN2:NM_006946:exon24:c.G4899A:p.L1633L 0.078 0.056 0.056 0.13 0.057 0.087 0.0694 0.0555 0.0539 0.1082 0.1346 0.0619 0.0927 0.0721 0.05 0.051 0.05 0.098 0.074 rs639938 COSM3998547;COSM3998546 4(haematopoietic_and_lymphoid_tissue) Likely benign Spinocerebellar_Ataxia\x2c_Dominant RCV000404452.1 MedGen CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0686 0.0530 0.0572 0.0253 0.1130 0.1383 0.0573 0.0646 0.0696 0.0780 0.0537 0.0609 0.0265 0.1009 0.1454 0.0751 0.0900 het 1848.22 131 11 66460527 . C T 1848.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.447;DP=131;Dels=0.00;FS=1.496;HRun=0;HaplotypeScore=4.2980;MQ=59.54;MQ0=0;MQRankSum=1.696;QD=14.11;ReadPosRankSum=-1.020;VQSLOD=5.1405;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,64:131:99:1878,0,2014 11 66468469 66468469 A G exonic SPTBN2 nonsynonymous SNV SPTBN2:NM_006946:exon16:c.T3101C:p.V1034A 0.21 0.33 0.13 0.28 0.11 0.11 0.1335 0.2877 0.0927 0.2567 0.1569 0.1043 0.1453 0.1133 0.15 0.26 0.092 0.22 0.14 rs506028 COSM3752673;COSM3752672 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000118411.2|RCV000390858.1 MedGen|MedGen CN169374|CN239243 . . . . . . 0.795 0.032 T 0.0 0.026 B 0.0 0.013 B 0.750 0.097 N 1 0.090 P -0.895 0.014 N 0.87 0.464 T 1.28 0.010 N 0.039 0.019 -0.978 0.354 T 0.000 0.000 T . . . -1.315 0.022 0.004 0.276 0.014 0.010 0.036 N c -1.163 -1.081 1.000 0.747 0.707 0.730 0 4.51 0.544 -0.199 0.094 0.041 0.156 0.000 0.063 0.008 0.104 11.762 0.510 . ENSG00000250105.1|ENSG00000248746.1 Muscle_Skeletal|Muscle_Skeletal 0.1272 0.2810 0.0997 0.0967 0.2586 0.1606 0.0962 0.1193 0.1099 0.1697 0.2725 0.1014 0.1026 0.2519 0.1661 0.1097 0.1319 het 1055.47 85 11 66468469 . A G 1055.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.369;DP=85;Dels=0.00;FS=5.671;HRun=0;HaplotypeScore=2.4203;MQ=60.00;MQ0=0;MQRankSum=0.858;QD=12.42;ReadPosRankSum=-0.269;VQSLOD=5.3782;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1085,0,1003 11 66472274 66472274 T C exonic SPTBN2 nonsynonymous SNV SPTBN2:NM_006946:exon14:c.A2473G:p.S825G 0.99 0.96 0.99 1. 1. 1. 0.9969 0.9636 0.9985 1 1 0.9998 0.9988 0.9999 0.99 0.97 1. 0.9 0.66 rs4930388 COSM3752675;COSM3752674 5(large_intestine) Benign not_specified RCV000336627.1 MedGen CN169374 . . . . . . 0.786 0.032 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.213 P -0.205 0.041 N 0.67 0.522 T -0.22 0.105 N 0.061 0.051 -0.961 0.390 T 0.000 0.000 T . . . 0.335 0.126 6.023 0.363 0.023 0.025 0.069 N c -0.765 -0.550 1.000 0.747 0.696 0.567 0 4.97 0.653 2.181 0.419 0.040 0.155 0.943 0.325 0.014 0.122 12.604 0.557 . . . 0.9974 0.9639 0.9984 1 1 0.9999 0.9998 0.9975 0.9999 0.9884 0.9597 0.9964 1 1 1 0.9996 1 hom 1243.76 36 11 66472274 . T C 1243.76 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=34.55;VQSLOD=9.1743;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1277,102,0 11 66834252 66834252 C T exonic RHOD synonymous SNV RHOD:NM_014578:exon3:c.C264T:p.D88D 0.38 0.16 0.51 0.45 0.36 0.54 0.3901 0.1844 0.6120 0.4598 0.2764 0.3595 0.3565 0.4988 0.3 0.19 0.36 0.35 0.3 rs2282502 COSM3752677 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4005 0.1836 0.5988 0.4051 0.4569 0.2769 0.3593 0.3962 0.4984 0.3016 0.1833 0.5573 0.3907 0.4639 0.2679 0.3425 0.3381 het 3230.05 250 11 66834252 . C T 3230.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.139;DP=250;DS;Dels=0.00;FS=1.540;HRun=0;HaplotypeScore=8.4052;MQ=58.07;MQ0=0;MQRankSum=1.189;QD=12.92;ReadPosRankSum=-0.161;VQSLOD=4.2280;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,124:250:99:3261,0,3127 11 66837965 66837965 T C exonic RHOD nonsynonymous SNV RHOD:NM_001300886:exon2:c.T202C:p.C68R,RHOD:NM_014578:exon4:c.T400C:p.C134R 1. 1. 1. 1. 1. 1. 1.0000 0.9996 1 1 1 1 1 1 1. 1. 1. 1. 0.97 rs4930409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9997 1.0000 1 0.9999 1 1.0000 1 1.0000 0.9999 0.9998 0.9988 1 1 1 1 1 hom 6423.16 212 11 66837965 . T C 6423.16 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7845;MQ=59.30;MQ0=0;QD=30.30;VQSLOD=9.0206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6422,505,0 11 66995603 66995603 T C exonic KDM2A synonymous SNV KDM2A:NM_012308:exon11:c.T1053C:p.T351T 0.94 0.89 0.96 0.94 0.98 0.98 0.9730 0.9022 0.9719 0.9529 0.9555 0.9878 0.9666 0.9736 0.96 0.9 0.99 0.88 . rs3741189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9735 0.9002 0.9699 0.9961 0.9536 0.9563 0.9888 0.9746 0.9746 0.9543 0.8999 0.9809 0.9967 0.9581 0.9508 0.9829 0.9705 hom 5127.95 148 11 66995603 . T C 5127.95 Mask AC=2;AF=1.00;AN=2;DP=148;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6537;MQ=59.71;MQ0=0;QD=34.65;VQSLOD=9.1135;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:148:99:5094,391,0 11 67068859 67068859 T C exonic ANKRD13D synonymous SNV ANKRD13D:NM_207354:exon12:c.T1338C:p.V446V,ANKRD13D:NM_001347901:exon13:c.T1077C:p.V359V 0.89 0.76 0.95 0.89 0.96 0.98 0.9426 0.7898 0.9453 0.8843 0.9558 0.9648 0.9444 0.9729 0.91 0.79 0.97 0.78 0.92 rs2298815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9465 0.7856 0.9498 0.9742 0.8861 0.9575 0.9656 0.9481 0.9709 0.9100 0.7916 0.9451 0.9735 0.9023 0.9507 0.9640 0.9582 hom 1485.30 48 11 67068859 . T C 1485.30 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=30.94;VQSLOD=9.2257;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1518,129,0 11 67072382 67072382 C T exonic SSH3 synonymous SNV SSH3:NM_017857:exon3:c.C243T:p.F81F 0.066 0.086 0.27 0.03 0.004 . 0.0459 0.0706 0.3753 0.0233 0.0005 0.0037 0.0126 0.0005 0.025 0.064 0.0043 0.054 . rs61731786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0566 0.0695 0.3486 0.0086 0.0233 0.0004 0.0035 0.0459 0.0006 0.0308 0.0688 0.2828 0.0132 0.0217 0.0006 0.0037 0.0184 het 751.69 56 11 67072382 . C T 751.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.274;DP=56;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=0.511;QD=13.42;ReadPosRankSum=0.115;VQSLOD=7.0099;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,31:56:99:782,0,649 11 67079177 67079177 G A exonic SSH3 nonsynonymous SNV SSH3:NM_017857:exon14:c.G1799A:p.R600H 0.07 0.1 0.27 0.03 0.004 . 0.0468 0.0833 0.3753 0.0232 0.0005 0.0037 0.0133 0.0007 0.029 0.077 0.0043 0.076 . rs1573536 COSM5505319 1(biliary_tract) . . . . . . . . . . . 0.008 0.912 D 0.834 0.485 P 0.337 0.405 B 0.025 0.016 N 0.998 0.588 P 1.545 0.392 L 3.32 0.546 T -1.18 0.301 N 0.059 0.043 -1.086 0.063 T 0.000 0.000 T . . . 3.050 0.427 22.4 0.983 0.394 0.677 0.333 D c -0.318 -0.325 1.000 0.747 0.696 0.567 0 2.53 0.295 0.575 0.233 -0.223 0.096 0.942 0.325 0.099 0.189 7.268 0.253 Dual specificity phosphatase\x2c catalytic domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase-like . . 0.0574 0.0838 0.3488 0.0086 0.0232 0.0004 0.0036 0.0460 0.0006 0.0349 0.0838 0.2823 0.0132 0.0217 0.0006 0.0035 0.0194 het 1063.11 82 11 67079177 . G A 1063.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.356;DP=82;Dels=0.00;FS=7.934;HRun=0;HaplotypeScore=2.8906;MQ=59.44;MQ0=0;MQRankSum=0.949;QD=12.96;ReadPosRankSum=0.361;VQSLOD=4.9853;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,43:82:99:1093,0,1078 11 67120530 67120530 C G exonic POLD4 nonsynonymous SNV POLD4:NM_001256870:exon2:c.G116C:p.R39P,POLD4:NM_021173:exon2:c.G116C:p.R39P 0.036 0.0015 0.26 0.001 0.003 . 0.0547 0.0035 0.4582 0.0042 0 0.0051 0.0180 0 0.0023 0.0018 0.0026 0.022 . rs28364240 . . . . . . . . . . . . . 0.314 0.138 T 0.0 0.026 B 0.0 0.013 B 0.473 0.049 N 1 0.090 P -1.32 0.007 N 1.48 0.317 T 0.05 0.064 N 0.071 0.088 -1.002 0.294 T 0.000 0.000 T . . . 0.907 0.181 10.12 0.838 0.144 0.012 0.042 N c -1.343 -1.300 1.000 0.747 0.442 0.072 0 -1.95 0.071 -0.289 0.083 -1.261 0.014 0.003 0.159 0.003 0.074 0.871 0.011 . . . 0.0495 0.0026 0.3229 0.0016 0.0025 0.0002 0.0027 0.0425 0.0001 0.0105 0.0036 0.2745 0 0 0.0006 0.0030 0.0164 het 205.39 18 11 67120530 . C G 205.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.854;DP=18;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=57.18;MQ0=0;MQRankSum=1.943;QD=11.41;ReadPosRankSum=-1.236;VQSLOD=4.9227;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:235,0,217 11 67164791 67164791 T C exonic RAD9A synonymous SNV RAD9A:NM_001243224:exon7:c.T786C:p.G262G,RAD9A:NM_004584:exon10:c.T1014C:p.G338G 0.35 0.83 0.41 0.26 0.081 0.045 0.1420 0.6483 0.4316 0.2121 0.0873 0.0632 0.1075 0.0573 0.24 0.6 0.059 0.42 0.0082 rs872110 COSM1746506 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1626 0.6928 0.4379 0.0603 0.2206 0.0997 0.0650 0.1467 0.0607 0.2937 0.7315 0.4370 0.0586 0.2214 0.1356 0.0805 0.1300 het 277.48 17 11 67164791 . T C 277.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.415;DP=17;Dels=0.00;FS=13.554;HRun=4;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=1.415;QD=16.32;ReadPosRankSum=-0.439;VQSLOD=3.7396;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,10:17:99:307,0,186 11 67165015 67165015 T C exonic RAD9A synonymous SNV RAD9A:NM_001243224:exon8:c.T933C:p.S311S,RAD9A:NM_004584:exon11:c.T1161C:p.S387S 0.064 0.073 0.27 0.03 0.004 . 0.0472 0.0635 0.3831 0.0235 0.0005 0.0038 0.0134 0.0005 0.021 0.053 0.0043 0.054 . rs2066494 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0560 0.0570 0.3487 0.0087 0.0233 0.0004 0.0035 0.0457 0.0006 0.0271 0.0556 0.2840 0.0132 0.0216 0.0006 0.0037 0.0204 het 750.26 47 11 67165015 . T C 750.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.856;DP=47;Dels=0.00;FS=13.129;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;MQRankSum=1.130;QD=15.96;ReadPosRankSum=-1.016;VQSLOD=3.9294;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,32:47:99:780,0,402 11 67171736 67171736 C T exonic TBC1D10C synonymous SNV TBC1D10C:NM_001256508:exon2:c.C63T:p.S21S,TBC1D10C:NM_198517:exon2:c.C63T:p.S21S 0.35 0.83 0.4 0.26 0.079 0.047 0.1886 0.7240 0.4923 0.2472 0.1148 0.0805 0.1357 0.0655 0.28 0.67 0.074 0.48 0.041 rs2514256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1771 0.7233 0.4562 0.0604 0.2318 0.0954 0.0735 0.1521 0.0635 0.2805 0.7260 0.3995 0.0563 0.2171 0.1091 0.0770 0.1211 het 191.15 20 11 67171736 . C T 191.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-0.424;QD=9.56;ReadPosRankSum=0.347;VQSLOD=6.7083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,8:20:99:221,0,366 11 67186271 67186271 C A exonic CARNS1 nonsynonymous SNV CARNS1:NM_020811:exon4:c.C40A:p.P14T,CARNS1:NM_001166222:exon5:c.C409A:p.P137T 0.18 0.49 0.3 0.029 0.005 . 0.1017 0.4526 0.4446 0.0331 0.0007 0.0076 0.0366 0.0017 0.12 0.38 0.0065 0.2 . rs868167 . . . . . . . . . . . . . 0.005 0.654 D 0.835 0.476 P 0.466 0.448 P . . . 0.986 0.246 P 0.55 0.145 N 1.01 0.411 T -2.42 0.660 N 0.104 0.320 -0.914 0.464 T 0.000 0.000 T . . . 4.474 0.599 24.2 0.989 0.480 0.649 0.323 D c 0.005 0.038 1.000 0.747 0.646 0.450 0 3.03 0.339 2.284 0.429 0.023 0.146 0.997 0.399 0.937 0.410 12.112 0.530 . ENSG00000172508.6|ENSG00000167792.7 Heart_Left_Ventricle|Whole_Blood 0.0775 0.4106 0.3529 0.0088 0.0215 0.0004 0.0045 0.0610 0.0015 0.1343 0.4299 0.3022 0.0132 0.0216 0.0006 0.0055 0.0367 het 132.16 13 11 67186271 . C A 132.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DP=13;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=1.8924;MQ=58.20;MQ0=0;MQRankSum=-1.073;QD=10.17;ReadPosRankSum=0.259;VQSLOD=4.9474;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,6:13:99:162,0,117 11 67191449 67191449 T C exonic CARNS1 synonymous SNV CARNS1:NM_020811:exon9:c.T1861C:p.L621L,CARNS1:NM_001166222:exon10:c.T2230C:p.L744L 0.36 0.83 0.41 0.29 0.084 0.048 0.1874 0.7229 0.4852 0.2824 0.1294 0.0812 0.1381 0.0645 0.28 0.67 0.077 0.45 . rs1790747 COSM5432859;COSM5432860 1(breast);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1881 0.7318 0.4589 0.0623 0.2805 0.1171 0.0783 0.1599 0.0656 0.2890 0.7300 0.4031 0.0563 0.2575 0.1335 0.0813 0.1286 het 728.67 43 11 67191449 . T C 728.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.293;DP=43;Dels=0.00;FS=5.147;HRun=0;HaplotypeScore=2.6203;MQ=59.03;MQ0=0;MQRankSum=-0.395;QD=16.95;ReadPosRankSum=-0.013;VQSLOD=5.2353;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,28:43:99:759,0,409 11 67200819 67200819 C T exonic RPS6KB2 synonymous SNV RPS6KB2:NM_003952:exon10:c.C807T:p.F269F 0.36 0.33 0.54 0.33 0.42 0.23 0.3872 0.3284 0.5760 0.2863 0.3761 0.4100 0.3608 0.2562 0.38 0.31 0.42 0.43 0.47 rs4930427 COSM147279;COSM3752680 1(breast);1(stomach);2(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3942 0.3215 0.5639 0.3128 0.2853 0.3691 0.4193 0.4003 0.2580 0.3730 0.3170 0.5048 0.3146 0.2652 0.3716 0.4115 0.3701 het 3191.33 249 11 67200819 . C T 3191.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.407;DP=249;DS;Dels=0.00;FS=3.633;HRun=2;HaplotypeScore=3.7451;MQ=59.46;MQ0=0;MQRankSum=-0.495;QD=12.82;ReadPosRankSum=-0.205;VQSLOD=5.4799;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:126,123:249:99:3221,0,3254 11 67202156 67202156 C T exonic RPS6KB2 nonsynonymous SNV RPS6KB2:NM_003952:exon14:c.C1259T:p.A420V 0.49 0.81 0.57 0.33 0.42 0.23 0.4291 0.7397 0.5921 0.2970 0.3829 0.4193 0.3887 0.2691 0.53 0.73 0.43 0.61 0.35 rs13859 COSM1475816;COSM429715 1(liver);3(large_intestine) . . . . . . . . . . . 0.016 0.518 D 0.003 0.102 B 0.009 0.133 B 0.000 0.559 D 0.617 0.308 P 0.69 0.170 N -0.32 0.682 T -0.96 0.255 N 0.067 0.054 -0.963 0.387 T 0.000 0.000 T . . . 4.104 0.551 23.7 0.992 0.561 0.945 0.611 D c -0.232 -0.062 1.000 0.747 0.672 0.522 0 4.45 0.532 5.499 0.664 0.935 0.490 1.000 0.715 0.731 0.317 15.058 0.715 . ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000255949.1|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000084207.11|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000255949.1|ENSG00000175634.10|ENSG00000255949.1|ENSG00000084207.11|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000255119.1|ENSG00000167792.7|ENSG00000213402.2|ENSG00000255949.1|ENSG00000213402.2|ENSG00000213402.2|ENSG00000255949.1|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000255949.1|ENSG00000167792.7|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000231793.4|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000110711.5|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000167792.7|ENSG00000213402.2|ENSG00000255949.1|ENSG00000213402.2|ENSG00000213402.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina 0.4169 0.7427 0.5812 0.3190 0.2789 0.3599 0.4121 0.4127 0.2555 0.4981 0.7507 0.5383 0.3179 0.2646 0.3713 0.4142 0.3885 het 310.90 21 11 67202156 . C T 310.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.136;DP=21;Dels=0.00;FS=1.871;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.109;QD=14.80;ReadPosRankSum=0.833;VQSLOD=5.7028;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,13:21:99:341,0,206 11 67209515 67209515 C T exonic CORO1B synonymous SNV CORO1B:NM_020441:exon3:c.G246A:p.T82T,CORO1B:NM_001018070:exon4:c.G246A:p.T82T 0.044 0.0015 0.26 0.035 0.003 . 0.0401 0.0029 0.3769 0.0268 0.0008 0.0025 0.0114 0.0004 0.0032 0.0032 0.0033 0.022 . rs111451405 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0521 0.0029 0.3485 0.0021 0.0265 0.0005 0.0028 0.0412 0.0006 0.0124 0.0039 0.2792 0 0.0290 0.0009 0.0033 0.0163 het 661.72 57 11 67209515 . C T 661.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.208;DP=57;Dels=0.00;FS=3.671;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.380;QD=11.61;ReadPosRankSum=0.073;VQSLOD=5.6224;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,24:57:99:692,0,858 11 67257823 67257823 C A exonic AIP nonsynonymous SNV AIP:NM_001302959:exon5:c.C505A:p.Q169K,AIP:NM_001302960:exon5:c.C682A:p.Q228K,AIP:NM_003977:exon5:c.C682A:p.Q228K 0.85 0.44 0.96 1. 1. 1. 0.9550 0.5035 0.9801 1 1 0.9982 0.9819 0.9994 0.83 0.52 1. 0.47 0.98 rs641081 COSM4146206 1(thyroid) Benign|Benign not_specified|Familial_Isolated_Pituitary_Adenomas RCV000253961.2|RCV000385512.1 MedGen|MedGen CN169374|CN239192 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.027 0.257 N 1 0.090 P 0.42 0.125 N -0.72 0.730 T 0.69 0.043 N 0.051 0.189 -0.952 0.406 T 0.000 0.000 T . . . -1.180 0.026 0.007 0.659 0.077 0.188 0.202 N c -1.227 -1.098 1.000 0.480 0.707 0.730 0 1.08 0.194 1.300 0.328 -0.005 0.134 0.003 0.159 0.068 0.175 3.921 0.087 Elongated TPR repeat-containing domain|Tetratricopeptide-like helical domain;Tetratricopeptide-like helical domain ENSG00000173156.2|ENSG00000132746.10|ENSG00000172508.6|ENSG00000173156.2|ENSG00000172508.6|ENSG00000132744.3 Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Pancreas 0.9633 0.4904 0.9731 0.9998 0.9999 1 0.9979 0.9793 0.9993 0.8508 0.4803 0.9582 1 0.9994 1 0.9977 0.9755 hom 2826.11 85 11 67257823 . C A 2826.11 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5251;MQ=59.01;MQ0=0;QD=33.25;VQSLOD=9.9043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2859,226,0 11 67258391 67258391 A G exonic AIP nonsynonymous SNV AIP:NM_001302959:exon6:c.A743G:p.Q248R,AIP:NM_003977:exon6:c.A920G:p.Q307R 1. 1. 1. 1. 1. 1. 0.9999 0.9997 0.9998 1 1 1 1 0.9996 1. 1. 1. 0.99 0.9 rs4930199 COSM4146207 1(thyroid) Benign|Benign not_specified|Familial_Isolated_Pituitary_Adenomas RCV000243723.1|RCV000302136.1 MedGen|MedGen CN169374|CN239192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9998 0.9999 1 1 1 1.0000 0.9998 0.9997 0.9998 0.9995 0.9988 1 1 1 0.9999 1 hom 904.64 30 11 67258391 . A G 904.64 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.15;VQSLOD=12.8997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:75.23:938,75,0 11 67263767 67263767 A G exonic PITPNM1 synonymous SNV PITPNM1:NM_001130848:exon15:c.T2196C:p.A732A,PITPNM1:NM_004910:exon15:c.T2199C:p.A733A 0.93 0.76 0.98 0.99 1. 1. 0.9784 0.7843 0.9909 0.9799 1 0.9988 0.9865 0.9993 0.93 0.79 1. 0.89 0.98 rs618633 COSM4146208 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9831 0.7798 0.9881 0.9998 0.9816 0.9999 0.9987 0.9881 0.9993 0.9351 0.7794 0.9845 1 0.9790 1 0.9982 0.9888 hom 1255.38 43 11 67263767 . A G 1255.38 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=29.19;VQSLOD=8.0953;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1288,111,0 11 67288594 67288594 C T exonic CABP2 nonsynonymous SNV CABP2:NM_001318496:exon4:c.G299A:p.R100Q,CABP2:NM_016366:exon4:c.G281A:p.R94Q 0.43 0.03 0.38 0.66 0.56 0.64 0.5289 0.1072 0.3607 0.6933 0.5339 0.5739 0.5673 0.6395 0.42 0.13 0.57 0.34 0.44 rs2276118 COSM5618309 1(breast) . . . . . . . . . . . 0.298 0.146 T 0.422 0.420 B 0.091 0.354 B 0.000 0.559 D 0.113 0.359 P 0.14 0.088 N -0.04 0.633 T -0.63 0.202 N 0.036 0.032 -0.958 0.396 T 0.000 0.000 T . . . 2.266 0.334 17.94 0.985 0.415 0.174 0.196 N c -0.432 -0.405 0.001 0.084 0.517 0.208 0 3.61 0.403 0.114 0.152 0.852 0.362 0.004 0.165 0.887 0.373 6.202 0.197 EF-Hand 1\x2c calcium-binding site|EF-hand domain|EF-hand domain pair ENSG00000167792.7|ENSG00000213402.2|ENSG00000255949.1|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000255949.1|ENSG00000084207.11|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000231793.4|ENSG00000213402.2|ENSG00000084207.11|ENSG00000213402.2|ENSG00000255949.1|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000255949.1|ENSG00000231793.4|ENSG00000084207.11|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000084207.11|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000167799.5|ENSG00000167799.5|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000255119.1|ENSG00000167792.7|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000213402.2|ENSG00000167792.7|ENSG00000213402.2|ENSG00000255949.1|ENSG00000167792.7|ENSG00000213402.2|ENSG00000255949.1|ENSG00000231793.4|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000110711.5|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000084207.11|ENSG00000167792.7|ENSG00000213402.2|ENSG00000255949.1|ENSG00000231793.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.5291 0.0988 0.3625 0.6740 0.6962 0.5410 0.5677 0.5347 0.6351 0.4375 0.1023 0.4007 0.6689 0.7025 0.5402 0.5695 0.5625 het 1664.27 88 11 67288594 . C T 1664.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.944;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9800;MQ=59.53;MQ0=0;MQRankSum=-0.419;QD=18.91;ReadPosRankSum=-0.140;VQSLOD=5.7544;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,57:88:99:1694,0,731 11 67352689 67352689 A G exonic GSTP1 nonsynonymous SNV GSTP1:NM_000852:exon5:c.A313G:p.I105V 0.35 0.48 0.48 0.18 0.33 0.29 0.3335 0.4442 0.5351 0.1807 0.2749 0.3191 0.2962 0.2887 0.36 0.42 0.33 0.36 0.38 rs1695 COSM4986157;COSM3752683 7(soft_tissue);1(large_intestine) drug response|drug response|drug response|not provided fluorouracil_and_oxaliplatin_response_-_Efficacy|cyclophosphamide_and_epirubicin_response_-_Efficacy\x2c_Toxicity/ADR|Platinum_compounds_response_-_Toxicity/ADR|Colorectal_Neoplasms RCV000211146.1|RCV000211269.1|RCV000211325.1|RCV000437330.1 MedGen|MedGen|MedGen|MeSH:MedGen CN236475|CN236473|CN236514|D015179:CN236642 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.320 0.041 N . . . -0.095 0.047 N 3.96 0.034 T 0.29 0.043 N 0.01 0.003 -0.938 0.429 T 0.000 0.000 T . . . -2.678 0.002 0.001 0.324 0.019 0.009 0.034 N c -2.101 -2.017 1.000 0.747 0.628 0.401 0 -1.16 0.091 -1.459 0.025 -0.811 0.031 0.000 0.063 0.009 0.108 6.983 0.237 Glutathione S-transferase\x2c C-terminal-like;Glutathione S-transferase\x2c C-terminal|Glutathione S-transferase\x2c C-terminal-like ENSG00000084207.11|ENSG00000167792.7|ENSG00000213402.2|ENSG00000084207.11|ENSG00000255119.1|ENSG00000084207.11|ENSG00000213402.2|ENSG00000231793.4|ENSG00000255318.1|ENSG00000167799.5|ENSG00000084207.11|ENSG00000084207.11|ENSG00000213402.2|ENSG00000084207.11|ENSG00000231793.4|ENSG00000213402.2|ENSG00000084207.11|ENSG00000084207.11|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000231793.4|ENSG00000084207.11|ENSG00000231793.4|ENSG00000213402.2|ENSG00000255949.1|ENSG00000175634.10|ENSG00000231793.4|ENSG00000084207.11|ENSG00000213402.2|ENSG00000231793.4|ENSG00000255318.1|ENSG00000175634.10|ENSG00000213402.2|ENSG00000175634.10|ENSG00000167799.5|ENSG00000167799.5|ENSG00000167792.7|ENSG00000255949.1|ENSG00000175634.10|ENSG00000255119.1|ENSG00000167792.7|ENSG00000213402.2|ENSG00000255949.1|ENSG00000167792.7|ENSG00000231793.4|ENSG00000255949.1|ENSG00000167792.7|ENSG00000213402.2|ENSG00000231793.4|ENSG00000084207.11|ENSG00000110711.5|ENSG00000255949.1|ENSG00000175634.10|ENSG00000167792.7|ENSG00000213402.2|ENSG00000231793.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.3388 0.4484 0.5201 0.2156 0.1782 0.2695 0.3328 0.3410 0.2873 0.3537 0.4496 0.4737 0.25 0.1718 0.2695 0.3351 0.3172 het 833.63 52 11 67352689 . A G 833.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.241;DP=52;Dels=0.00;FS=2.559;HRun=0;HaplotypeScore=0.9995;MQ=58.83;MQ0=0;MQRankSum=1.260;QD=16.03;ReadPosRankSum=-1.202;VQSLOD=5.7921;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,34:52:99:864,0,393 11 67353970 67353970 T C exonic GSTP1 synonymous SNV GSTP1:NM_000852:exon7:c.T555C:p.S185S 0.36 0.52 0.49 0.17 0.34 0.25 0.3404 0.4935 0.5434 0.1775 0.2776 0.3299 0.3101 0.2616 0.38 0.45 0.34 0.34 0.39 rs4891 COSM3752684;COSM4415296 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3464 0.4950 0.5290 0.2226 0.1770 0.2799 0.3449 0.3532 0.2610 0.3727 0.4921 0.4868 0.2649 0.1737 0.2824 0.3442 0.3347 het 736.98 68 11 67353970 . T C 736.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.693;DP=68;Dels=0.00;FS=3.461;HRun=0;HaplotypeScore=0.9665;MQ=59.17;MQ0=0;MQRankSum=-0.160;QD=10.84;ReadPosRankSum=0.884;VQSLOD=5.6671;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:767,0,1030 11 67395714 67395714 C T exonic NUDT8 synonymous SNV NUDT8:NM_001243750:exon4:c.G414A:p.E138E 0.23 0.18 0.45 0.13 0.33 0.16 0.2815 0.2003 0.4801 0.1227 0.3226 0.3028 0.2940 0.1744 0.28 0.19 0.31 0.26 . rs7124513 COSM3998550 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2934 0.1913 0.4781 0.2054 0.1208 0.3246 0.3123 0.3078 0.1749 0.2753 0.1802 0.4257 0.2252 0.1215 0.3292 0.3257 0.3035 het 1000.73 72 11 67395714 . C T 1000.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.062;DP=72;Dels=0.00;FS=4.720;HRun=1;HaplotypeScore=1.7900;MQ=58.38;MQ0=0;MQRankSum=-0.220;QD=13.90;ReadPosRankSum=-0.592;VQSLOD=5.3004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,34:72:99:1031,0,994 11 67402362 67402362 T G exonic TBX10 nonsynonymous SNV TBX10:NM_005995:exon3:c.A302C:p.K101T 0.22 0.16 0.42 0.13 0.3 0.14 0.2569 0.1771 0.4596 0.1231 0.2213 0.2797 0.2534 0.1580 0.25 0.17 0.29 0.27 0.32 rs3758938 COSM1746519 2(urinary_tract);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 0.999 0.764 D 0.986 0.754 D 0.000 0.504 D 0.074 0.368 P 1.73 0.448 L -2.3 0.877 D -4.92 0.816 D 0.293 0.353 -1.097 0.045 T 0.000 0.000 T . . . 3.113 0.434 22.5 0.995 0.700 0.908 0.520 D c 0.132 0.031 1.000 0.480 0.660 0.495 0 1.7 0.232 5.896 0.694 0.134 0.217 1.000 0.715 1.000 0.888 8.572 0.326 p53-like transcription factor\x2c DNA-binding ENSG00000167792.7|ENSG00000213402.2|ENSG00000084207.11|ENSG00000255119.1|ENSG00000084207.11|ENSG00000213402.2|ENSG00000167799.5|ENSG00000084207.11|ENSG00000213402.2|ENSG00000231793.4|ENSG00000213402.2|ENSG00000213402.2|ENSG00000255318.1|ENSG00000255949.1|ENSG00000175634.10|ENSG00000231793.4|ENSG00000167799.5|ENSG00000167800.9|ENSG00000213402.2|ENSG00000255949.1|ENSG00000255949.1|ENSG00000175634.10|ENSG00000231793.4|ENSG00000084207.11|ENSG00000175634.10|ENSG00000167799.5|ENSG00000231793.4|ENSG00000255949.1|ENSG00000175634.10|ENSG00000167799.5|ENSG00000167792.7|ENSG00000255949.1|ENSG00000175634.10|ENSG00000255119.1|ENSG00000231793.4|ENSG00000167792.7|ENSG00000213402.2|ENSG00000110057.3|ENSG00000231793.4|ENSG00000231793.4|ENSG00000167792.7|ENSG00000231793.4|ENSG00000255949.1|ENSG00000255949.1|ENSG00000175634.10|ENSG00000231793.4|ENSG00000167792.7|ENSG00000213402.2|ENSG00000231793.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2678 0.1682 0.4528 0.2018 0.1216 0.2251 0.2920 0.2831 0.1591 0.2426 0.1599 0.4021 0.2185 0.1248 0.2291 0.2965 0.2684 het 1107.22 108 11 67402362 . T G 1107.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.065;DP=108;Dels=0.00;FS=0.734;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-0.043;QD=10.25;ReadPosRankSum=-0.545;VQSLOD=6.4172;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,47:108:99:1137,0,1720 11 67430762 67430762 T C exonic ALDH3B2 nonsynonymous SNV ALDH3B2:NM_000695:exon10:c.A1082G:p.H361R,ALDH3B2:NM_001031615:exon10:c.A1082G:p.H361R 0.87 0.72 0.92 0.91 0.89 0.97 0.9042 0.7483 0.9488 0.9138 0.9590 0.9012 0.9095 0.9557 0.85 0.75 0.9 0.92 0.7 rs1551886 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.405 0.006 N -1.11 0.775 T 4.73 0.000 N 0.023 0.163 -1.035 0.187 T 0.000 0.000 T . . . -2.425 0.004 0.001 0.116 0.002 0.007 0.028 N c -1.241 -1.363 0.520 0.211 0.497 0.185 0 -6.26 0.018 0.538 0.227 -0.405 0.062 0.644 0.279 0.108 0.192 2.231 0.037 . ENSG00000132746.10|ENSG00000132744.3|ENSG00000167799.5|ENSG00000167799.5 Esophagus_Mucosa|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.9079 0.7401 0.9405 0.8722 0.9119 0.9592 0.9010 0.9009 0.9541 0.8683 0.7361 0.9177 0.8767 0.9133 0.9607 0.9118 0.9312 hom 2479.01 83 11 67430762 . T C 2479.01 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=58.83;MQ0=0;QD=29.87;VQSLOD=9.0400;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:83:99:2512,231,0 11 67432804 67432804 T C exonic ALDH3B2 nonsynonymous SNV ALDH3B2:NM_000695:exon7:c.A658G:p.S220G,ALDH3B2:NM_001031615:exon7:c.A658G:p.S220G 1. 1. 1. 1. 1. 1. 0.9992 0.9990 1 0.9907 1 1.0000 0.9989 0.9998 1. 1. 1. 0.8 0.95 rs2447571 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.182 P -2.43 0.001 N -0.93 0.752 T 1.59 0.007 N 0.046 0.176 -0.942 0.423 T 0.000 0.000 T . . . -0.928 0.035 0.023 0.153 0.004 0.107 0.160 N c -1.269 -1.121 1.000 0.448 0.526 0.212 0 3.21 0.358 1.278 0.326 0.067 0.174 0.270 0.248 0.045 0.161 9.130 0.358 Aldehyde dehydrogenase domain|Aldehyde dehydrogenase\x2c C-terminal|Aldehyde/histidinol dehydrogenase . . 0.9996 0.9991 0.9999 1 0.9955 1.0000 1.0000 0.9998 0.9999 0.9995 0.9987 1 1 1 0.9997 0.9999 0.9990 hom 4349.24 140 11 67432804 . T C 4349.24 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.707;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9315;MQ=53.33;MQ0=1;MQRankSum=-0.493;QD=31.07;ReadPosRankSum=1.454;VQSLOD=3.4297;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,139:140:99:4348,364,0 11 67433869 67433869 C T exonic ALDH3B2 nonsynonymous SNV ALDH3B2:NM_000695:exon5:c.G155A:p.S52N,ALDH3B2:NM_001031615:exon5:c.G155A:p.S52N 0.87 0.72 0.92 0.91 0.89 0.97 0.9029 0.7538 0.9457 0.9098 0.9576 0.8995 0.9028 0.9542 0.85 0.75 0.9 0.94 0.46 rs1551888 COSM3720774 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -3.77 0.000 N 0.22 0.599 T 4.82 0.000 N 0.02 0.348 -0.950 0.410 T 0.000 0.000 T . . . 0.388 0.131 6.512 0.268 0.013 0.144 0.182 N c -1.100 -0.768 1.000 0.446 0.403 0.052 0 4.2 0.486 4.139 0.575 0.103 0.200 1.000 0.715 0.400 0.254 9.659 0.389 Aldehyde dehydrogenase N-terminal domain|Aldehyde dehydrogenase domain|Aldehyde/histidinol dehydrogenase ENSG00000132746.10|ENSG00000132744.3|ENSG00000167799.5|ENSG00000167799.5 Esophagus_Mucosa|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.9070 0.7367 0.9386 0.8717 0.9101 0.9590 0.8995 0.9000 0.9531 0.8674 0.7329 0.9197 0.87 0.9130 0.9605 0.9119 0.9284 hom 613.02 19 11 67433869 . C T 613.02 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.26;VQSLOD=14.2734;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:51.16:646,51,0 11 67765163 67765163 - G exonic;splicing UNC93B1;UNC93B1 NM_030930:exon7:c.887+1->C unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 0.13 . rs5792426 COSM1356479 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 1 hom 2321.72 55 11 67765163 . A AG 2321.72 Mask AC=2;AF=1.00;AN=2;DP=55;FS=0.000;HRun=1;HaplotypeScore=104.5350;MQ=60.11;MQ0=0;QD=42.21;set=variant2 GT:AD:DP:GQ:PL 1/1:0,55:55:99:2364,160,0 11 67786064 67786064 - C exonic ALDH3B1 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 0.022 . rs397777471 COSN20108432;COSN20108437;COSN20108436;COSN20108433;COSN20108434;COSN20108435 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 441.60 11 11 67786064 . A AC 441.60 Mask AC=2;AF=1.00;AN=2;DP=11;FS=0.000;HRun=1;HaplotypeScore=26.1370;MQ=62.89;MQ0=0;QD=40.15;set=variant2 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:484,33,0 11 67789293 67789293 - C exonic ALDH3B1 unknown UNKNOWN 1. 1. 1. 0.99 1. 1. 0.9992 0.9998 1 0.9899 1 1 0.9989 0.9998 1. 1. 1. 0.087 . rs58160034 COSN20108439;COSN20108441;COSN20108443;COSN20108440;COSN20108442;COSN20108438 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 1 1.0000 1 0.9901 1 1.0000 0.9996 0.9999 0.9996 1 1 1 0.9932 1 0.9999 0.9990 hom 4645.16 107 11 67789293 . G GC 4645.16 Mask AC=2;AF=1.00;AN=2;DP=107;FS=0.000;HRun=1;HaplotypeScore=228.8771;MQ=51.05;MQ0=1;QD=41.47;set=variant2 GT:AD:DP:GQ:PL 1/1:2,110:107:99:4645,316,0 11 67814979 67814979 G C exonic TCIRG1 synonymous SNV TCIRG1:NM_006053:exon6:c.G597C:p.L199L,TCIRG1:NM_001351059:exon10:c.G351C:p.L117L,TCIRG1:NM_006019:exon11:c.G1245C:p.L415L 0.97 0.89 0.99 1. 1. 1. 0.9927 0.9226 0.9964 1 1 0.9995 0.9956 1 0.97 0.93 1. 0.95 0.98 rs2471829 . . Benign|Benign not_provided|not_specified RCV000224273.1|RCV000455500.1 MedGen|MedGen CN221809|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9943 0.9230 0.9962 1 1 0.9999 0.9995 0.9956 1.0000 0.9779 0.9233 0.9964 1 0.9994 1 0.9998 0.9929 hom 2484.25 69 11 67814979 . G C 2484.25 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;QD=36.00;VQSLOD=8.8365;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2517,205,0 11 67957518 67957518 A T exonic KMT5B nonsynonymous SNV KMT5B:NM_001300909:exon2:c.T26A:p.I9N,KMT5B:NM_016028:exon2:c.T26A:p.I9N,KMT5B:NM_017635:exon2:c.T26A:p.I9N 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs2512606 COSM4591766 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 7442.59 237 11 67957518 . A T 7442.59 Mask AC=2;AF=1.00;AN=2;DP=237;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4440;MQ=58.78;MQ0=0;QD=31.40;VQSLOD=7.0028;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:7442,593,0 11 68030173 68030173 C A exonic C11orf24 nonsynonymous SNV C11orf24:NM_022338:exon4:c.G290T:p.G97V 0.38 0.13 0.51 0.48 0.31 0.62 0.3728 0.1585 0.6113 0.4964 0.2950 0.3098 0.3662 0.5621 0.26 0.16 0.31 0.28 0.23 rs3802746 COSM4999216 1(pancreas) . . . . . . . . . . . 0.026 0.469 D 0.995 0.657 D 0.919 0.637 D . . . 1 0.090 P 1.905 0.510 L 0.54 0.549 T -2.68 0.572 D 0.08 0.072 -0.923 0.451 T 0.000 0.000 T . . . 2.683 0.384 20.7 0.940 0.235 0.139 0.179 N c -0.293 -0.508 0.997 0.349 0.732 0.924 0 1.45 0.216 0.211 0.171 0.826 0.337 0.000 0.063 0.004 0.083 6.607 0.218 . ENSG00000171067.6|ENSG00000162337.7|ENSG00000171067.6|ENSG00000171067.6|ENSG00000171067.6 Artery_Tibial|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Nerve_Tibial|Testis 0.3819 0.1549 0.5913 0.3605 0.4918 0.2870 0.3059 0.3615 0.5595 0.2803 0.1523 0.5155 0.3533 0.4913 0.2899 0.3112 0.3432 het 918.45 73 11 68030173 . C A 918.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.952;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5578;MQ=59.68;MQ0=0;MQRankSum=2.051;QD=12.58;ReadPosRankSum=1.307;VQSLOD=5.6471;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,36:73:99:948,0,1115 11 68171013 68171013 T C exonic LRP5 synonymous SNV LRP5:NM_002335:exon8:c.T1647C:p.F549F 0.84 0.57 0.91 0.99 0.92 0.94 0.9001 0.6311 0.9427 0.9884 0.9651 0.9114 0.9075 0.9211 0.82 0.64 0.91 0.84 0.89 rs545382 COSM4146219 1(thyroid) Benign not_specified RCV000253993.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9070 0.6232 0.9364 0.8919 0.9891 0.9631 0.9105 0.9019 0.9222 0.8459 0.6314 0.9320 0.9073 0.9883 0.9645 0.9169 0.9153 het 1710.43 114 11 68171013 . T C 1710.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.897;DP=114;Dels=0.00;FS=4.666;HRun=0;HaplotypeScore=2.7860;MQ=60.00;MQ0=0;MQRankSum=-0.066;QD=15.00;ReadPosRankSum=-1.231;VQSLOD=5.3971;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,66:114:99:1740,0,1306 11 68174122 68174122 G A exonic LRP5 synonymous SNV LRP5:NM_001291902:exon9:c.G189A:p.E63E,LRP5:NM_002335:exon9:c.G1932A:p.E644E 0.056 0.065 0.05 0.058 0.072 0.03 0.0598 0.0701 0.0401 0.0430 0.0415 0.0714 0.0662 0.0359 0.07 0.07 0.069 0.087 0.074 rs2277268 COSM4419668 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000246217.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0581 0.0664 0.0443 0.0486 0.0402 0.0448 0.0726 0.0636 0.0376 0.0587 0.0640 0.0561 0.06 0.0358 0.0481 0.0612 0.0519 het 1399.73 92 11 68174122 . G A 1399.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.141;DP=92;Dels=0.00;FS=3.957;HRun=1;HaplotypeScore=2.7297;MQ=59.59;MQ0=0;MQRankSum=0.900;QD=15.21;ReadPosRankSum=-0.157;VQSLOD=6.0985;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,49:92:99:1430,0,1234 11 68192690 68192690 G A exonic LRP5 synonymous SNV LRP5:NM_001291902:exon15:c.G1614A:p.V538V,LRP5:NM_002335:exon15:c.G3357A:p.V1119V 0.58 0.16 0.68 0.72 0.69 0.81 0.6755 0.2312 0.7043 0.7315 0.8649 0.6856 0.7058 0.7868 0.53 0.24 0.67 0.37 0.6 rs556442 COSM3752692 1(breast);1(skin);2(large_intestine) Benign not_specified RCV000246826.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6839 0.2209 0.6877 0.6705 0.7377 0.8612 0.6776 0.6809 0.7829 0.5925 0.2359 0.6675 0.6258 0.7689 0.8595 0.7029 0.7577 het 1115.66 76 11 68192690 . G A 1115.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.770;DP=76;Dels=0.00;FS=2.294;HRun=0;HaplotypeScore=1.6553;MQ=59.30;MQ0=1;MQRankSum=2.331;QD=14.68;ReadPosRankSum=0.175;VQSLOD=5.9203;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,40:76:99:1146,0,952 11 68512543 68512543 A G exonic TESMIN nonsynonymous SNV TESMIN:NM_001039656:exon4:c.T667C:p.C223R,TESMIN:NM_004923:exon4:c.T667C:p.C223R 0.047 0.02 0.071 0.019 0.12 0.021 0.0864 0.0309 0.0887 0.0290 0.0998 0.1154 0.0872 0.0270 0.08 0.032 0.11 0.043 0.082 rs12365708 COSM3752693 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D 0.000 0.559 D 0.000 0.588 P 1.3 0.327 L 0.75 0.676 T -3.14 0.990 D 0.558 0.592 -0.923 0.452 T 0.009 0.031 T . . . 2.893 0.408 21.8 0.972 0.323 0.764 0.372 D c 0.443 0.458 0.986 0.309 0.615 0.372 0 5.35 0.762 1.561 0.357 1.061 0.807 0.825 0.298 0.910 0.387 13.567 0.611 . ENSG00000132749.6|ENSG00000069482.6 Thyroid|Whole_Blood 0.0901 0.0287 0.0929 0.1999 0.0285 0.1031 0.1083 0.1000 0.0272 0.0785 0.0245 0.1017 0.2119 0.0265 0.1083 0.1029 0.1071 het 1276.65 126 11 68512543 . A G 1276.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.535;DP=126;Dels=0.00;FS=8.282;HRun=0;HaplotypeScore=1.9988;MQ=60.00;MQ0=0;MQRankSum=0.415;QD=10.13;ReadPosRankSum=-0.282;VQSLOD=4.4912;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,53:126:99:1307,0,1889 11 68549340 68549340 A G exonic CPT1A synonymous SNV CPT1A:NM_001031847:exon11:c.T1251C:p.F417F,CPT1A:NM_001876:exon11:c.T1251C:p.F417F 0.89 0.8 0.93 0.91 0.95 0.91 0.9313 0.8421 0.9477 0.9112 0.9751 0.9518 0.9240 0.8867 0.91 0.85 0.95 0.85 0.98 rs2228502 . . Benign\x2cBenign not_specified\x2cnot_specified RCV000124600.2\x2cRCV000153103.4 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9334 0.8413 0.9463 0.9519 0.9094 0.9718 0.9493 0.9367 0.8863 0.9253 0.8515 0.9486 0.9536 0.9152 0.9734 0.9544 0.9552 hom 7089.83 214 11 68549340 . A G 7089.83 Mask AC=2;AF=1.00;AN=2;DP=214;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0287;MQ=59.03;MQ0=0;QD=33.13;VQSLOD=6.4986;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:7089,569,0 11 68560787 68560787 C T exonic CPT1A synonymous SNV CPT1A:NM_001031847:exon9:c.G963A:p.E321E,CPT1A:NM_001876:exon9:c.G963A:p.E321E 0.051 0.032 0.066 0.02 0.12 0.024 0.1036 0.0447 0.1077 0.0327 0.1226 0.1377 0.1158 0.0326 0.083 0.038 0.11 0.033 0.09 rs2229737 COSM3752694;COSM3752695 1(large_intestine) Benign not_specified RCV000079919.6 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0927 0.0372 0.0976 0.2188 0.0283 0.1141 0.1103 0.1034 0.0294 0.0832 0.0306 0.1062 0.2285 0.0253 0.1197 0.1055 0.1104 het 638.15 45 11 68560787 . C T 638.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.149;DP=45;Dels=0.00;FS=7.050;HRun=1;HaplotypeScore=4.4234;MQ=58.32;MQ0=0;MQRankSum=-0.330;QD=14.18;ReadPosRankSum=2.468;VQSLOD=3.0834;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,24:45:99:668,0,462 11 68566802 68566802 G A exonic CPT1A nonsynonymous SNV CPT1A:NM_001031847:exon6:c.C577T:p.L193F,CPT1A:NM_001876:exon6:c.C577T:p.L193F . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.002 0.721 D 0.525 0.486 P 0.443 0.496 B 0.000 0.843 D 1 0.810 D 2.255 0.644 M -2.82 0.912 D -3.33 0.662 D 0.764 0.757 0.636 0.924 D 0.771 0.922 D 0.155 0.837 D 5.866 0.804 27.3 0.999 0.968 0.992 0.923 D c 0.341 0.333 1.000 0.747 0.672 0.522 0 4.66 0.577 9.794 0.982 1.044 0.665 1.000 0.715 0.668 0.302 17.551 0.877 . . . 4.061e-06 0 0 0 0 0 8.951e-06 0 0 . . . . . . . . het 887.05 71 11 68566802 . G A 887.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.443;DP=71;Dels=0.00;FS=0.889;HRun=2;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;MQRankSum=-1.387;QD=12.49;ReadPosRankSum=0.524;VQSLOD=3.1110;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,37:71:99:917,0,871 11 68678962 68678962 T C exonic IGHMBP2 nonsynonymous SNV IGHMBP2:NM_002180:exon5:c.T602C:p.L201S 0.68 0.6 0.82 0.46 0.85 0.74 0.7719 0.6396 0.7882 0.4958 0.7730 0.8314 0.7965 0.7458 0.78 0.65 0.84 0.69 0.77 rs560096 COSM4146225 1(oesophagus);1(thyroid) Benign|Benign not_specified|Spinal_muscular_atrophy RCV000248264.1|RCV000324070.1 MedGen|MedGen:SNOMED_CT CN169374|C0026847:5262007 . . . . . . 0.258 0.167 T 0.0 0.026 B 0.001 0.040 B 0.978 0.081 N 1 0.090 P 0.195 0.092 N -1.57 0.819 D 1.85 0.005 N 0.037 0.017 -0.988 0.332 T 0.000 0.000 T . . . -0.697 0.045 0.073 0.314 0.018 0.019 0.058 N c -1.495 -1.448 0.945 0.276 0.566 0.321 0 -1.58 0.080 -0.032 0.121 0.034 0.151 0.000 0.063 0.312 0.239 5.028 0.136 Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000250508.1|ENSG00000197345.8|ENSG00000197345.8|ENSG00000197345.8|ENSG00000197345.8|ENSG00000197345.8|ENSG00000250508.1|ENSG00000250508.1|ENSG00000197345.8|ENSG00000197345.8|ENSG00000250508.1|ENSG00000197345.8|ENSG00000197345.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.7744 0.6365 0.7987 0.7966 0.4833 0.7611 0.8396 0.7945 0.7421 0.7524 0.6476 0.8222 0.8046 0.4678 0.7510 0.8376 0.7796 hom 3057.13 92 11 68678962 . T C 3057.13 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4912;MQ=59.75;MQ0=0;QD=33.23;VQSLOD=7.9199;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3090,247,0 11 68682402 68682402 A G exonic IGHMBP2 nonsynonymous SNV IGHMBP2:NM_002180:exon6:c.A823G:p.I275V 0.12 0.11 0.19 0.015 0.27 0.044 0.1819 0.1219 0.1804 0.0214 0.1383 0.2448 0.1894 0.0676 0.21 0.12 0.25 0.12 0.24 rs10896380 COSM1178425 1(prostate) Benign|Benign not_specified|Spinal_muscular_atrophy RCV000244835.1|RCV000388182.1 MedGen|MedGen:SNOMED_CT CN169374|C0026847:5262007 . . . . . . 0.736 0.037 T 0.003 0.102 B 0.014 0.158 B 0.002 0.368 N 0.110 0.810 P -0.365 0.031 N -1.45 0.809 T -0.23 0.107 N 0.063 0.048 -1.092 0.052 T 0.000 0.000 T . . . 0.602 0.152 8.171 0.742 0.103 0.733 0.356 D c -0.992 -0.873 0.652 0.222 0.732 0.924 0 0.050 0.135 1.465 0.347 0.237 0.263 0.841 0.301 0.902 0.382 3.425 0.069 AAA+ ATPase domain|Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000250508.1|ENSG00000132740.4|ENSG00000250508.1|ENSG00000197345.8|ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000250508.1|ENSG00000250508.1|ENSG00000132740.4|ENSG00000132740.4|ENSG00000197345.8|ENSG00000250508.1|ENSG00000250508.1|ENSG00000250508.1|ENSG00000132740.4|ENSG00000132740.4|ENSG00000132740.4|ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000197345.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1827 0.1245 0.1830 0.2758 0.0239 0.1335 0.2474 0.2086 0.0672 0.1759 0.1229 0.2136 0.3079 0.0216 0.1277 0.2286 0.1955 het 1631.45 159 11 68682402 . A G 1631.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.000;DP=159;Dels=0.00;FS=5.924;HRun=0;HaplotypeScore=4.4075;MQ=59.06;MQ0=0;MQRankSum=2.695;QD=10.26;ReadPosRankSum=-0.755;VQSLOD=3.9087;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,67:159:99:1661,0,2716 11 68701948 68701948 C T exonic IGHMBP2 synonymous SNV IGHMBP2:NM_002180:exon11:c.C1554T:p.V518V 0.13 0.15 0.19 0.021 0.26 0.051 0.2299 0.2094 0.2313 0.0385 0.2016 0.2866 0.2364 0.0973 0.22 0.17 0.25 0.16 0.21 rs11228413 COSM429749 1(prostate) Benign|Benign not_specified|Spinal_muscular_atrophy RCV000254390.1|RCV000276501.1 MedGen|MedGen:SNOMED_CT CN169374|C0026847:5262007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1860 0.1765 0.1837 0.2745 0.0292 0.1316 0.2448 0.2112 0.0756 0.1894 0.1707 0.2148 0.3079 0.0271 0.1279 0.2281 0.1939 het 520.67 42 11 68701948 . C T 520.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.153;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;MQRankSum=0.768;QD=12.40;ReadPosRankSum=-0.416;VQSLOD=6.5193;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,22:42:99:551,0,534 11 68704028 68704028 C T exonic IGHMBP2 nonsynonymous SNV IGHMBP2:NM_002180:exon13:c.C2080T:p.R694W 0.13 0.15 0.19 0.021 0.26 0.051 0.1896 0.1764 0.1822 0.0280 0.1390 0.2473 0.1977 0.0770 0.22 0.17 0.25 0.16 0.16 rs2236654 COSM3722147 1(upper_aerodigestive_tract);2(large_intestine) Benign|Benign not_specified|Spinal_muscular_atrophy RCV000247088.2|RCV000340149.1 MedGen|MedGen:SNOMED_CT CN169374|C0026847:5262007 . . . . . . 0.003 0.682 D 0.013 0.154 B 0.003 0.080 B 0.000 0.005 N 1 0.090 P 2.19 0.618 M -2.72 0.906 D -2.43 0.532 N 0.109 0.117 -0.964 0.385 T 0.000 0.001 T . . . 3.786 0.512 23.4 0.998 0.898 0.379 0.256 N c -0.670 -0.719 0.995 0.337 0.563 0.310 0 3.53 0.394 0.319 0.191 0.044 0.157 0.000 0.063 0.012 0.117 11.100 0.472 . ENSG00000132740.4|ENSG00000132740.4|ENSG00000250508.1|ENSG00000132740.4|ENSG00000250508.1|ENSG00000197345.8|ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000250508.1|ENSG00000250508.1|ENSG00000132740.4|ENSG00000197345.8|ENSG00000250508.1|ENSG00000250508.1|ENSG00000132740.4|ENSG00000132740.4|ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000197345.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1879 0.1786 0.1844 0.2761 0.0296 0.1334 0.2477 0.2123 0.0763 0.1897 0.1710 0.2134 0.3079 0.0272 0.1281 0.2286 0.1943 het 394.02 44 11 68704028 . C T 394.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.427;DP=44;Dels=0.00;FS=2.661;HRun=0;HaplotypeScore=0.7340;MQ=59.58;MQ0=0;MQRankSum=0.525;QD=8.95;ReadPosRankSum=0.256;VQSLOD=6.5302;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,16:44:99:424,0,740 11 68705674 68705674 C A exonic IGHMBP2 nonsynonymous SNV IGHMBP2:NM_002180:exon14:c.C2636A:p.T879K 0.2 0.017 0.44 0.22 0.27 0.17 0.2498 0.0667 0.4599 0.2492 0.2625 0.2583 0.2439 0.1789 0.21 0.078 0.28 0.16 0.28 rs17612126 COSM3752696 1(large_intestine) Benign|Benign not_specified|Spinal_muscular_atrophy RCV000174725.2|RCV000262208.1 MedGen|MedGen:SNOMED_CT CN169374|C0026847:5262007 . . . . . . 0.901 0.024 T 0.215 0.284 B 0.03 0.205 B 0.000 0.002 N 1 0.090 P 1.245 0.315 L -2.51 0.893 D -0.24 0.108 N 0.05 0.031 -0.931 0.440 T 0.000 0.000 T . . . -0.192 0.077 1.138 0.812 0.131 0.029 0.077 N c -1.270 -1.373 0.640 0.220 0.696 0.567 0 -3.62 0.042 -0.292 0.083 -1.636 0.008 0.000 0.063 0.000 0.016 0.369 0.003 . ENSG00000132740.4|ENSG00000197345.8|ENSG00000197345.8|ENSG00000132740.4|ENSG00000255741.1|ENSG00000132740.4|ENSG00000261625.1|ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000132740.4|ENSG00000197345.8|ENSG00000132740.4|ENSG00000197345.8|ENSG00000197345.8|ENSG00000132740.4|ENSG00000132740.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.2637 0.0614 0.4651 0.1352 0.2461 0.2476 0.2716 0.2552 0.1797 0.2135 0.0644 0.4282 0.1523 0.2413 0.2437 0.2795 0.2138 het 2108.97 187 11 68705674 . C A 2108.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.442;DP=187;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1658;MQ=58.92;MQ0=0;MQRankSum=1.855;QD=11.28;ReadPosRankSum=-0.187;VQSLOD=5.3543;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,86:187:99:2139,0,2311 11 68748003 68748003 T C exonic MRGPRD synonymous SNV MRGPRD:NM_198923:exon1:c.A453G:p.T151T 0.63 0.82 0.8 0.49 0.64 0.39 0.6080 0.8059 0.8088 0.4901 0.5647 0.6100 0.5898 0.4150 0.69 0.81 0.62 0.69 0.71 rs34847539 COSM3752697 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6139 0.8098 0.8084 0.5770 0.5006 0.5422 0.6180 0.6296 0.4139 0.6590 0.8103 0.8146 0.6192 0.5143 0.5381 0.6131 0.5652 het 783.43 68 11 68748003 . T C 783.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.045;DP=68;Dels=0.00;FS=2.073;HRun=0;HaplotypeScore=1.9132;MQ=57.99;MQ0=0;MQRankSum=0.972;QD=11.52;ReadPosRankSum=1.912;VQSLOD=4.6602;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,30:68:99:813,0,911 11 68773403 68773403 G A exonic MRGPRF synonymous SNV MRGPRF:NM_001098515:exon3:c.C375T:p.C125C,MRGPRF:NM_145015:exon3:c.C375T:p.C125C 0.23 0.21 0.14 0.23 0.27 0.3 0.3511 0.2669 0.2524 0.3312 0.4223 0.3731 0.3478 0.3519 0.24 0.2 0.26 0.24 0.041 rs11544722 COSM3765596 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2464 0.2078 0.1147 0.2687 0.2307 0.2805 0.2679 0.2390 0.3128 0.2557 0.2225 0.1355 0.2351 0.2395 0.2835 0.2748 0.2939 het 86.61 12 11 68773403 . G A 86.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.134;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.831;QD=7.22;ReadPosRankSum=0.831;VQSLOD=10.1738;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,5:12:99:117,0,198 11 68822739 68822739 T C exonic TPCN2 synonymous SNV TPCN2:NM_139075:exon4:c.T348C:p.A116A 1. 1. 1. 1. 1. 1. 0.9994 0.9939 0.9995 1 1 1.0000 1 1 1. 0.99 1. 0.94 1. rs1470892 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9929 0.9995 1 1 0.9999 1.0000 1 1 0.9977 0.9921 0.9988 1 1 1 0.9999 1 hom 4009.90 117 11 68822739 . T C 4009.90 Mask AC=2;AF=1.00;AN=2;DP=117;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.84;MQ0=0;QD=34.27;VQSLOD=9.1579;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:4009,322,0 11 68831364 68831364 G A exonic TPCN2 nonsynonymous SNV TPCN2:NM_139075:exon7:c.G655A:p.V219I 0.04 0.0045 0.042 0.005 0.14 0.018 0.0997 0.0197 0.0295 0.0006 0.2633 0.1390 0.1005 0.0293 0.086 0.022 0.12 0.033 0.11 rs72928978 COSM3752698 1(liver);1(large_intestine) . . . . . . . . . . . 0.017 0.512 D 0.993 0.637 D 0.769 0.549 P 0.000 0.843 D 0.000 0.588 P . . . -5.18 0.988 D -0.77 0.214 N 0.223 0.274 -0.796 0.554 T 0.061 0.254 T . . . 4.052 0.544 23.7 0.998 0.918 0.984 0.825 D c 0.297 0.260 1.000 0.747 0.696 0.567 0 4.6 0.564 6.344 0.727 0.910 0.421 1.000 0.715 0.799 0.336 17.018 0.862 Ion transport domain ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000261070.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000261070.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.0949 0.0161 0.0288 0.1253 0.0004 0.2480 0.1259 0.1051 0.0280 0.1155 0.0147 0.0407 0.1159 0.0006 0.2617 0.1534 0.1660 het 538.14 49 11 68831364 . G A 538.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.470;DP=49;Dels=0.00;FS=4.843;HRun=0;HaplotypeScore=0.9993;MQ=59.15;MQ0=0;MQRankSum=0.290;QD=10.98;ReadPosRankSum=1.470;VQSLOD=5.5194;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,24:49:99:568,0,644 11 68840397 68840397 T C exonic TPCN2 synonymous SNV TPCN2:NM_139075:exon13:c.T1158C:p.Y386Y 0.34 0.37 0.33 0.29 0.49 0.2 0.4153 0.3947 0.2964 0.3085 0.4573 0.4923 0.4404 0.2384 0.47 0.4 0.5 0.29 0.55 rs1466221 COSM1162432 1(bone);1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4135 0.3919 0.3078 0.4639 0.3101 0.4599 0.4964 0.4355 0.2436 0.4356 0.3949 0.3477 0.4932 0.2932 0.4426 0.4758 0.4506 het 992.67 124 11 68840397 . T C 992.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.816;DP=124;Dels=0.00;FS=0.723;HRun=0;HaplotypeScore=4.9024;MQ=58.47;MQ0=0;MQRankSum=-1.800;QD=8.01;ReadPosRankSum=-0.355;VQSLOD=3.4099;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,42:124:99:1023,0,2018 11 68840412 68840412 C G exonic TPCN2 synonymous SNV TPCN2:NM_139075:exon13:c.C1173G:p.L391L 0.33 0.36 0.33 0.29 0.48 0.2 0.4140 0.3823 0.2875 0.3087 0.4582 0.4934 0.4393 0.2382 0.46 0.39 0.5 0.36 0.56 rs1466220 COSM3752700 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4122 0.3789 0.2994 0.4643 0.3104 0.4615 0.4975 0.4343 0.2435 0.4326 0.3829 0.3429 0.4932 0.2938 0.4426 0.4766 0.4527 het 1066.12 125 11 68840412 . C G 1066.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.907;DP=125;Dels=0.00;FS=0.696;HRun=0;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;MQRankSum=0.358;QD=8.53;ReadPosRankSum=-0.076;VQSLOD=4.9276;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,42:125:99:1096,0,2110 11 68846399 68846399 A T exonic TPCN2 nonsynonymous SNV TPCN2:NM_139075:exon16:c.A1450T:p.M484L 0.1 0.021 0.085 0.011 0.2 0.21 0.1634 0.0369 0.0583 0.0037 0.3041 0.1938 0.1670 0.2218 0.13 0.035 0.18 0.098 0.14 rs35264875 COSM4146228 3(soft_tissue);1(thyroid) other Skin/hair/eye_pigmentation\x2c_variation_in\x2c_10 RCV000000763.2 MedGen:OMIM C2677088:612267 . . . . . . 1.0 0.010 T 0.007 0.131 B 0.007 0.121 B 0.222 0.161 N 0.434 0.322 P 1.265 0.321 L -4.35 0.973 D -1.84 0.439 N 0.136 0.396 -0.996 0.309 T 0.000 0.000 T . . . -1.220 0.024 0.006 0.690 0.086 0.730 0.354 D c -0.552 -0.621 1.000 0.462 0.706 0.609 0 -3.89 0.039 0.705 0.252 -0.559 0.047 0.982 0.353 0.986 0.517 10.134 0.417 Ion transport domain|Voltage-dependent channel\x2c four helix bundle domain ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000162341.11|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000261070.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.1593 0.0320 0.0592 0.2047 0.0037 0.2980 0.1818 0.1729 0.2202 0.1562 0.0320 0.0779 0.1887 0.0018 0.3143 0.2086 0.2122 het 2398.04 181 11 68846399 . A T 2398.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.456;DP=181;Dels=0.00;FS=7.941;HRun=1;HaplotypeScore=5.8521;MQ=58.91;MQ0=0;MQRankSum=-2.388;QD=13.25;ReadPosRankSum=-0.022;VQSLOD=2.8308;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,93:181:99:2428,0,2316 11 68851414 68851414 T C exonic TPCN2 nonsynonymous SNV TPCN2:NM_139075:exon19:c.T1691C:p.L564P 0.75 0.72 0.61 0.5 0.99 0.92 0.8797 0.7546 0.5090 0.5256 0.9770 0.9900 0.9165 0.9173 0.91 0.76 0.99 0.72 0.97 rs2376558 . . . . . . . . . . . . . 0.245 0.174 T 0.001 0.067 B 0.001 0.040 B 0.143 0.182 N 0.024 0.588 P . . . -4.93 0.984 D 0.35 0.038 N 0.041 0.021 -0.952 0.406 T 0.000 0.000 T . . . 1.001 0.190 10.67 0.834 0.142 0.698 0.341 D c -0.751 -0.656 0.983 0.304 0.651 0.465 0 2.65 0.305 3.638 0.538 -0.328 0.075 1.000 0.715 0.031 0.148 5.787 0.175 Ion transport domain ENSG00000162341.11|ENSG00000162341.11|ENSG00000162341.11 Cells_Transformed_fibroblasts|Lung|Whole_Blood 0.8677 0.7468 0.5332 0.9860 0.5234 0.9763 0.9911 0.8999 0.9167 0.8821 0.7519 0.6014 0.9768 0.5155 0.9797 0.9843 0.9409 hom 1825.73 59 11 68851414 . T C 1825.73 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7851;MQ=57.60;MQ0=0;QD=30.94;VQSLOD=7.8254;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1859,150,0 11 68851466 68851466 G T exonic TPCN2 synonymous SNV TPCN2:NM_139075:exon19:c.G1743T:p.A581A 0.33 0.36 0.33 0.29 0.48 0.2 0.4139 0.3778 0.2962 0.3075 0.4594 0.4928 0.4372 0.2380 0.46 0.38 0.5 0.37 0.56 rs896973 COSM3752701 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4133 0.3753 0.3083 0.4642 0.3110 0.4607 0.4979 0.4348 0.2435 0.4331 0.3801 0.3481 0.5066 0.2942 0.4424 0.4784 0.4572 het 490.31 67 11 68851466 . G T 490.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.692;DP=67;Dels=0.00;FS=2.282;HRun=3;HaplotypeScore=4.2680;MQ=58.68;MQ0=0;MQRankSum=0.802;QD=7.32;ReadPosRankSum=1.624;VQSLOD=4.7767;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,20:67:99:520,0,1259 11 68854012 68854012 A G exonic TPCN2 synonymous SNV TPCN2:NM_139075:exon23:c.A2025G:p.V675V 0.1 0.04 0.085 0.011 0.2 0.19 0.1661 0.0522 0.0592 0.0037 0.3130 0.1971 0.1707 0.2131 0.13 0.05 0.18 0.098 0.16 rs35337391 COSM4146229 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1615 0.0478 0.0600 0.2059 0.0037 0.3053 0.1845 0.1772 0.2127 0.1633 0.0463 0.0779 0.1921 0.0019 0.3226 0.2125 0.2141 het 1417.61 129 11 68854012 . A G 1417.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.542;DP=129;Dels=0.00;FS=2.231;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;MQRankSum=-0.666;QD=10.99;ReadPosRankSum=0.458;VQSLOD=5.7427;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,57:129:99:1448,0,1846 11 68855363 68855363 G A exonic TPCN2 nonsynonymous SNV TPCN2:NM_139075:exon25:c.G2201A:p.G734E 0.18 0.039 0.22 0.21 0.38 0.089 0.3025 0.1011 0.2054 0.2381 0.4015 0.3889 0.3427 0.1275 0.29 0.11 0.38 0.16 0.39 rs3829241 . . other Skin/hair/eye_pigmentation\x2c_variation_in\x2c_10 RCV000000764.2 MedGen:OMIM C2677088:612267 . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.040 B 0.229 0.160 N 1 0.090 P 0 0.065 N -4.07 0.968 D 0.78 0.053 N 0.101 0.106 -0.966 0.381 T 0.000 0.000 T . . . -1.841 0.010 0.002 0.698 0.088 0.085 0.143 N c -1.496 -1.481 0.997 0.352 0.651 0.465 0 -3.6 0.043 1.167 0.312 -0.754 0.034 0.638 0.278 0.099 0.189 3.602 0.075 . ENSG00000162341.11|ENSG00000259799.1|ENSG00000259799.1|ENSG00000259799.1|ENSG00000162341.11|ENSG00000259799.1|ENSG00000259799.1|ENSG00000162341.11|ENSG00000259799.1|ENSG00000172927.3|ENSG00000259799.1|ENSG00000162341.11|ENSG00000259799.1|ENSG00000162341.11|ENSG00000162341.11|ENSG00000259799.1|ENSG00000162341.11|ENSG00000162341.11|ENSG00000259799.1|ENSG00000162341.11|ENSG00000259799.1|ENSG00000162341.11|ENSG00000259799.1|ENSG00000162341.11|ENSG00000162341.11|ENSG00000259799.1|ENSG00000162341.11|ENSG00000259799.1|ENSG00000162341.11|ENSG00000259799.1|ENSG00000259799.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2893 0.0888 0.1950 0.2547 0.2308 0.3699 0.3874 0.3043 0.1238 0.2817 0.0960 0.2208 0.2649 0.2165 0.3582 0.3799 0.3303 het 184.37 19 11 68855363 . G A 184.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.940;DP=19;Dels=0.00;FS=1.820;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=0.537;QD=9.70;ReadPosRankSum=0.124;VQSLOD=6.4648;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,8:19:99:214,0,340 11 69063476 69063476 C T exonic MYEOV nonsynonymous SNV MYEOV:NM_001293294:exon2:c.C385T:p.R129W,MYEOV:NM_001293296:exon2:c.C385T:p.R129W,MYEOV:NM_001300924:exon2:c.C385T:p.R129W,MYEOV:NM_001293291:exon3:c.C559T:p.R187W,MYEOV:NM_001300923:exon3:c.C385T:p.R129W,MYEOV:NM_138768:exon3:c.C559T:p.R187W 0.033 . 0.022 0.057 0.015 0.079 0.0273 0.0052 0.0188 0.0554 0.0088 0.0189 0.0232 0.0741 0.017 0.0066 0.022 0.022 0.016 rs116926312 COSM5462078 1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 N 0 0.065 N 1.77 0.260 T -6.63 0.922 D 0.042 0.086 -1.026 0.217 T 0.003 0.011 T . . . -1.377 0.020 0.004 0.338 0.020 0.007 0.029 N c -2.447 -2.533 1.000 0.747 0.507 0.198 0 -3.43 0.045 -0.251 0.088 -2.869 0.002 0.000 0.063 0.000 0.016 1.344 0.020 . . . 0.0264 0.0048 0.0196 0.0078 0.0539 0.0096 0.0195 0.0215 0.0731 0.0175 0.0061 0.0215 0.0066 0.0451 0.0149 0.0216 0.0193 het 2584.79 211 11 69063476 . C T 2584.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.297;DP=211;DS;Dels=0.00;FS=10.810;HRun=0;HaplotypeScore=7.0139;MQ=59.24;MQ0=0;MQRankSum=1.613;QD=12.25;ReadPosRankSum=-1.077;VQSLOD=3.4743;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,98:211:99:2615,0,2800 11 69462910 69462910 G A exonic CCND1 synonymous SNV CCND1:NM_053056:exon4:c.G723A:p.P241P 0.41 0.19 0.35 0.57 0.5 0.52 0.4551 0.2187 0.3772 0.5695 0.4830 0.4702 0.4889 0.5245 0.39 0.23 0.47 0.29 0.44 rs9344 COSM4146233;COSM1179751 18(soft_tissue);1(prostate);1(thyroid) other|other|other Colorectal_cancer\x2c_susceptibility_to|VON_HIPPEL-LINDAU_SYNDROME\x2c_MODIFIER_OF|Multiple_myeloma\x2c_translocation_11\x2c14_type RCV000014762.5|RCV000087019.5|RCV000433626.1 MedGen CN186214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4538 0.2125 0.3754 0.4486 0.5669 0.4857 0.4675 0.4616 0.5234 0.3966 0.2158 0.4125 0.4801 0.5495 0.4808 0.4583 0.4713 het 1454.45 107 11 69462910 . G A 1454.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.434;DP=107;Dels=0.00;FS=7.473;HRun=0;HaplotypeScore=4.2106;MQ=59.04;MQ0=0;MQRankSum=0.614;QD=13.59;ReadPosRankSum=-0.894;VQSLOD=4.9086;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,52:107:99:1484,0,1666 11 69934085 69934085 G A exonic ANO1 synonymous SNV ANO1:NM_018043:exon2:c.G336A:p.S112S 0.2 0.29 0.29 0.027 0.27 0.12 0.2978 0.3398 0.3509 0.0403 0.3660 0.3273 0.3227 0.1931 0.25 0.24 0.25 0.011 . rs10898112 COSM5033649;COSM5033647;COSM5033648 1(kidney);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2281 0.2765 0.2654 0.2897 0.0287 0.2647 0.2542 0.2575 0.1357 0.2498 0.2745 0.2452 0.3311 0.0333 0.2463 0.2591 0.2412 het 361.32 29 11 69934085 . G A 361.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.240;DP=29;Dels=0.00;FS=1.576;HRun=0;HaplotypeScore=2.8308;MQ=58.48;MQ0=0;MQRankSum=1.898;QD=12.46;ReadPosRankSum=-1.506;VQSLOD=5.4158;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:391,0,344 11 70007311 70007311 A G exonic ANO1 synonymous SNV ANO1:NM_018043:exon17:c.A1623G:p.R541R 0.6 0.4 0.58 0.78 0.65 0.67 0.6560 0.4210 0.6248 0.7704 0.7467 0.6707 0.6752 0.6611 0.59 0.44 0.66 0.56 . rs2276066 COSM4146240;COSM4146241;COSM4146239 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6582 0.4160 0.6213 0.6967 0.7703 0.7429 0.6656 0.6471 0.6574 0.6131 0.4165 0.6241 0.7351 0.7537 0.7435 0.6747 0.6762 hom 3191.36 93 11 70007311 . A G 3191.36 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=34.32;VQSLOD=9.9805;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3224,253,0 11 70007392 70007392 A G exonic ANO1 synonymous SNV ANO1:NM_018043:exon17:c.A1704G:p.A568A 0.66 0.59 0.61 0.78 0.66 0.66 0.6743 0.5855 0.6388 0.7699 0.7469 0.6769 0.6897 0.6622 0.64 0.59 0.66 0.61 . rs2276067 COSM4418388;COSM4418387;COSM4418386 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6745 0.5815 0.6356 0.7351 0.7702 0.7430 0.6700 0.6645 0.6591 0.6617 0.5762 0.6507 0.7819 0.7553 0.7437 0.6786 0.6898 hom 6001.23 193 11 70007392 . A G 6001.23 Mask AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5859;MQ=59.26;MQ0=0;QD=31.09;VQSLOD=9.1347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:6000,505,0 11 70118489 70118489 G A exonic PPFIA1 nonsynonymous SNV PPFIA1:NM_003626:exon2:c.G211A:p.V71I,PPFIA1:NM_177423:exon2:c.G211A:p.V71I 0.19 0.15 0.25 0.11 0.22 0.27 0.2172 0.1450 0.2346 0.0927 0.2772 0.2215 0.2170 0.2743 0.19 0.14 0.22 0.17 0.15 rs546502 COSM3998560 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.082 0.332 T 0.001 0.090 B 0.002 0.149 B 0.001 0.425 U 0.000 0.530 P 1.24 0.311 L 0.97 0.425 T -0.38 0.164 N 0.27 0.328 -1.065 0.106 T 0.000 0.000 T . . . 3.154 0.439 22.6 0.996 0.762 0.993 0.940 D c 0.041 0.232 1.0 0.983 0.722 0.854 0 4.99 0.658 7.656 0.826 1.038 0.658 1.000 0.715 0.997 0.653 18.370 0.903 . ENSG00000131626.11|ENSG00000246889.2|ENSG00000131626.11|ENSG00000131626.11|ENSG00000246889.2|ENSG00000131626.11|ENSG00000246889.2|ENSG00000131626.11|ENSG00000131626.11|ENSG00000131626.11|ENSG00000246889.2|ENSG00000131626.11|ENSG00000131626.11|ENSG00000131626.11|ENSG00000131626.11|ENSG00000246889.2|ENSG00000255539.1|ENSG00000131626.11|ENSG00000246889.2|ENSG00000255539.1|ENSG00000131626.11|ENSG00000255539.1|ENSG00000131626.11|ENSG00000246889.2|ENSG00000131626.11|ENSG00000246889.2|ENSG00000255539.1|ENSG00000131626.11|ENSG00000131626.11|ENSG00000246889.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid 0.2194 0.1421 0.2278 0.2095 0.0905 0.2826 0.2208 0.2278 0.2717 0.2033 0.1530 0.2422 0.2185 0.0771 0.2774 0.2244 0.2363 hom 6507.50 217 11 70118489 . G A 6507.50 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3862;MQ=58.83;MQ0=0;QD=29.99;VQSLOD=8.2436;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6507,515,0 11 70279766 70279766 C T exonic CTTN synonymous SNV CTTN:NM_001184740:exon16:c.C1347T:p.Y449Y,CTTN:NM_138565:exon16:c.C1347T:p.Y449Y,CTTN:NM_005231:exon17:c.C1458T:p.Y486Y 0.18 0.24 0.13 0.012 0.2 0.3 0.2032 0.2278 0.1187 0.0072 0.2643 0.2104 0.2152 0.2959 0.21 0.22 0.21 0.12 0.17 rs643301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2006 0.2338 0.1225 0.2187 0.0064 0.2687 0.2087 0.2156 0.2908 0.2128 0.2289 0.1411 0.2351 0.0068 0.2657 0.2161 0.2254 hom 5212.27 167 11 70279766 . C T 5212.27 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.252;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.87;MQ0=0;MQRankSum=-0.897;QD=31.21;ReadPosRankSum=-1.461;VQSLOD=9.0872;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,166:167:99:5173,374,0 11 71146577 71146577 G A exonic DHCR7 synonymous SNV DHCR7:NM_001163817:exon9:c.C1272T:p.G424G,DHCR7:NM_001360:exon9:c.C1272T:p.G424G 0.38 0.24 0.51 0.38 0.7 0.15 0.5499 0.32 0.5246 0.3933 0.5788 0.6938 0.5514 0.2105 0.6 0.34 0.74 0.076 0.47 rs909217 COSM329305;COSM5426654 2(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Smith-Lemli-Opitz_syndrome RCV000079641.6|RCV000352975.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0175694:270400:43929004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5601 0.3089 0.5291 0.6249 0.3900 0.5850 0.7154 0.5861 0.2136 0.5578 0.3130 0.5334 0.6126 0.4073 0.5830 0.7117 0.5520 hom 1667.26 61 11 71146577 . G A 1667.26 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=27.33;VQSLOD=7.6081;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:61:99:1700,150,0 11 71146691 71146691 A G exonic DHCR7 synonymous SNV DHCR7:NM_001163817:exon9:c.T1158C:p.D386D,DHCR7:NM_001360:exon9:c.T1158C:p.D386D 0.76 0.69 0.77 0.77 0.96 0.63 0.8531 0.7140 0.7206 0.7847 0.9434 0.9418 0.8736 0.6782 0.87 0.73 0.95 0.42 0.89 rs760241 . . Benign|Benign not_specified|Smith-Lemli-Opitz_syndrome RCV000079639.6|RCV000276871.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0175694:270400:43929004 . . . . . . 0.0 0.912 D . . . . . . . . . 0.000 0.588 P . . . -5.64 0.993 D 0.43 0.033 N . . -0.882 0.496 T 0.000 0.000 T . . . -1.185 0.026 0.007 0.125 0.002 0.045 0.100 N c -1.496 -1.741 1.000 0.473 0.707 0.730 0 -10.2 0.003 -0.535 0.062 -3.654 0.001 0.167 0.237 0.000 0.016 11.943 0.520 . ENSG00000254682.1|ENSG00000172890.7|ENSG00000241233.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000172890.7|ENSG00000241233.1|ENSG00000254682.1|ENSG00000172890.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.8528 0.7016 0.7397 0.8438 0.7857 0.9455 0.9493 0.8725 0.6794 0.8649 0.7076 0.7613 0.8377 0.7811 0.9422 0.9525 0.8852 hom 2115.90 68 11 71146691 . A G 2115.90 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=31.12;VQSLOD=8.9058;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2149,186,0 11 71152461 71152461 A G exonic DHCR7 synonymous SNV DHCR7:NM_001163817:exon6:c.T438C:p.N146N,DHCR7:NM_001360:exon6:c.T438C:p.N146N 0.81 0.82 0.81 0.83 0.95 0.63 0.8747 0.8356 0.7563 0.8501 0.9435 0.9435 0.8816 0.6872 0.91 0.84 0.95 0.83 0.89 rs949177 . . Benign|Benign not_specified|Smith-Lemli-Opitz_syndrome RCV000079654.6|RCV000355894.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0175694:270400:43929004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8711 0.8304 0.7705 0.8490 0.8489 0.9454 0.9504 0.8845 0.6814 0.9048 0.8328 0.7895 0.8477 0.8379 0.9422 0.9531 0.8969 hom 1648.27 49 11 71152461 . A G 1648.27 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.64;VQSLOD=13.9070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1681,135,0 11 71155153 71155153 A G exonic DHCR7 synonymous SNV DHCR7:NM_001163817:exon4:c.T207C:p.T69T,DHCR7:NM_001360:exon4:c.T207C:p.T69T 0.81 0.82 0.81 0.83 0.96 0.63 0.8755 0.8429 0.7542 0.8511 0.9461 0.9431 0.8862 0.6874 0.91 0.85 0.95 0.8 0.91 rs1790334 COSM4146260;COSM4146259 1(thyroid) Benign|Benign not_specified|Smith-Lemli-Opitz_syndrome RCV000079649.7|RCV000368185.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0175694:270400:43929004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8720 0.8368 0.7703 0.8487 0.8499 0.9455 0.9503 0.8844 0.6811 0.9070 0.8403 0.7888 0.8477 0.8383 0.9422 0.9534 0.8980 hom 853.82 28 11 71155153 . A G 853.82 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6643;MQ=57.65;MQ0=0;QD=30.49;VQSLOD=7.1092;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:75.20:887,75,0 11 71155171 71155171 C T exonic DHCR7 synonymous SNV DHCR7:NM_001163817:exon4:c.G189A:p.Q63Q,DHCR7:NM_001360:exon4:c.G189A:p.Q63Q 0.4 0.32 0.54 0.36 0.7 0.15 0.5718 0.4149 0.5516 0.3899 0.6017 0.7015 0.5771 0.2209 0.63 0.41 0.74 0.46 0.63 rs1044482 COSM3931425;COSM3931426 1(urinary_tract) Benign|Likely benign not_specified|Smith-Lemli-Opitz_syndrome RCV000079647.6|RCV000271282.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0175694:270400:43929004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5649 0.3950 0.5390 0.6247 0.3721 0.5800 0.7155 0.5867 0.2084 0.5819 0.4021 0.5453 0.6126 0.3866 0.5828 0.7106 0.5531 hom 961.05 30 11 71155171 . C T 961.05 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.81;MQ0=0;QD=32.04;VQSLOD=8.0093;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:81.25:994,81,0 11 71169547 71169547 G C exonic NADSYN1 nonsynonymous SNV NADSYN1:NM_018161:exon3:c.G220C:p.V74L 0.4 0.35 0.47 0.38 0.7 0.15 0.5599 0.4088 0.4785 0.3915 0.5941 0.7026 0.5529 0.2101 0.64 0.43 0.74 0.5 0.66 rs2276360 COSM3998565 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1 0.090 P -2.365 0.001 N -2.22 0.871 D 2.56 0.002 N 0.072 0.641 -0.992 0.322 T 0.000 0.000 T . . . -0.588 0.051 0.133 0.367 0.024 0.023 0.066 N c -1.614 -1.508 0.998 0.370 0.719 0.830 0 -2.34 0.063 0.230 0.175 0.014 0.141 0.027 0.200 0.422 0.258 6.666 0.221 Carbon-nitrogen hydrolase ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000172890.7|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000172890.7|ENSG00000172893.11|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000172890.7|ENSG00000172893.11|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000254682.1|ENSG00000172890.7|ENSG00000254682.1|ENSG00000172890.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5662 0.4053 0.4859 0.6210 0.3912 0.5981 0.7244 0.5872 0.2131 0.5913 0.4118 0.4940 0.6033 0.4064 0.6045 0.7195 0.5656 hom 5494.48 163 11 71169547 . G C 5494.48 Mask AC=2;AF=1.00;AN=2;DP=163;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2385;MQ=59.29;MQ0=0;QD=33.71;VQSLOD=7.3500;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5494,436,0 11 71184678 71184678 A C exonic NADSYN1 nonsynonymous SNV NADSYN1:NM_018161:exon8:c.A612C:p.Q204H 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1 1 0.9999 . . . 1. 0.98 rs7950441 COSM4146261 1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.182 P -3.585 0.000 N -1.94 0.849 D 5.19 0.000 N 0.208 0.447 -0.944 0.421 T 0.000 0.000 T . . . -1.473 0.018 0.003 0.151 0.004 0.178 0.198 N c -1.509 -1.236 0.314 0.193 0.707 0.730 0 1.05 0.192 -0.186 0.096 -0.445 0.057 0.838 0.300 0.944 0.418 3.923 0.087 Carbon-nitrogen hydrolase . . 1.0000 1 1 1 1 1 1.0000 1 1.0000 1.0000 0.9999 1 1 1 1 1 1 hom 4144.47 137 11 71184678 . A C 4144.47 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59.56;MQ0=0;QD=30.25;VQSLOD=8.7534;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4144,334,0 11 71185479 71185479 T C exonic NADSYN1 synonymous SNV NADSYN1:NM_018161:exon9:c.T705C:p.C235C 0.8 0.83 0.74 0.83 0.96 0.63 0.8662 0.8388 0.6942 0.8484 0.9432 0.9425 0.8789 0.6736 0.91 0.84 0.95 0.83 0.91 rs2276354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8633 0.8344 0.7153 0.8485 0.8498 0.9451 0.9498 0.8788 0.6755 0.9046 0.8394 0.7434 0.8477 0.8375 0.9419 0.9519 0.8951 hom 4613.02 148 11 71185479 . T C 4613.02 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5767;MQ=59.25;MQ0=0;QD=31.17;VQSLOD=8.7879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4612,376,0 11 71185518 71185518 T C exonic NADSYN1 synonymous SNV NADSYN1:NM_018161:exon9:c.T744C:p.I248I 0.75 0.64 0.72 0.83 0.96 0.62 0.8511 0.6765 0.6875 0.8484 0.9432 0.9419 0.8778 0.6724 0.86 0.68 0.95 0.73 0.91 rs2186778 COSM4146262 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8516 0.6700 0.7082 0.8485 0.8498 0.9452 0.9492 0.8739 0.6747 0.8566 0.6711 0.7387 0.8477 0.8364 0.9419 0.9516 0.8865 hom 4674.46 158 11 71185518 . T C 4674.46 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3621;MQ=59.05;MQ0=0;QD=29.59;VQSLOD=8.5257;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4673,394,0 11 71259822 71259822 A G exonic KRTAP5-9 nonsynonymous SNV KRTAP5-9:NM_005553:exon1:c.A119G:p.Y40C 0.2 0.41 0.15 0.13 0.14 0.082 0.1494 0.3728 0.1251 0.1308 0.1529 0.1356 0.1443 0.0911 0.2 0.36 0.12 0.16 . rs10792769 . . . . . . . . . . . . . 0.247 0.173 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.208 P -3.445 0.000 N 4.24 0.026 T 6.82 0.000 N 0.065 0.051 -0.942 0.423 T 0.000 0.000 T . . . 1.516 0.244 13.40 0.904 0.191 0.010 0.038 N c -1.396 -1.148 1.000 0.441 0.560 0.301 0 1.57 0.224 -0.130 0.104 -0.178 0.104 0.002 0.151 0.016 0.126 4.115 0.095 . . . 0.1451 0.3732 0.1249 0.2419 0.1315 0.1512 0.1264 0.1528 0.0921 0.2026 0.3667 0.1325 0.2781 0.1194 0.1537 0.1337 0.1448 het 4169.53 250 11 71259822 . A G 4169.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.264;DP=250;DS;Dels=0.00;FS=5.343;HRun=0;HaplotypeScore=6.8275;MQ=58.73;MQ0=0;MQRankSum=1.058;QD=16.68;ReadPosRankSum=0.285;VQSLOD=3.6062;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:131,117:250:99:3482,0,3433 11 71548465 71548465 A G exonic DEFB108B nonsynonymous SNV DEFB108B:NM_001002035:exon2:c.A79G:p.I27V 0.45 0.33 0.37 0.36 0.6 0.59 0.5364 0.3586 0.3218 0.3329 0.6513 0.6007 0.5749 0.5975 0.53 0.37 0.61 0.022 0.51 rs12285436 COSM3752714 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.175 0.224 T 0.017 0.163 B 0.007 0.121 B 0.736 0.098 N 1.000 0.090 P . . . 2.71 0.121 T -0.38 0.134 N 0.062 0.047 -0.966 0.380 T 0.000 0.000 T . . . -0.539 0.053 0.176 0.947 0.248 0.005 0.025 N c -0.983 -1.071 0.000 0.012 0.516 0.203 0 -2.97 0.052 -1.766 0.019 -0.030 0.127 0.406 0.260 0.827 0.345 3.030 0.057 . ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000158483.11|ENSG00000248671.3|ENSG00000248671.3|ENSG00000158483.11|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000254978.2|ENSG00000158483.11|ENSG00000248671.3|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000158483.11|ENSG00000248671.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Whole_Blood|Whole_Blood 0.5349 0.3578 0.3370 0.6394 0.3343 0.6512 0.5980 0.5593 0.6003 0.5135 0.3544 0.3807 0.6589 0.3255 0.6607 0.5903 0.6082 hom 6346.61 207 11 71548465 . A G 6346.61 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9686;MQ=52.92;MQ0=0;QD=30.66;VQSLOD=3.0316;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6346,497,0 11 71548492 71548492 C T exonic DEFB108B nonsynonymous SNV DEFB108B:NM_001002035:exon2:c.C106T:p.R36W 0.29 0.059 0.29 0.17 0.48 0.51 0.4182 0.1213 0.2612 0.1498 0.4799 0.4973 0.4339 0.5105 0.38 0.14 0.51 0.022 0.36 rs12793731 . . . . . . . . . . . . . 0.035 0.437 D 0.996 0.670 D 0.298 0.392 B 0.909 0.086 N 1.000 0.202 P . . . 1.38 0.340 T -6.75 0.927 D 0.234 0.287 -0.900 0.480 T 0.000 0.000 T . . . 2.474 0.359 19.30 0.682 0.083 0.057 0.115 N c -0.284 -0.448 0.000 0.012 0.516 0.203 0 1.51 0.220 1.521 0.353 0.638 0.291 0.163 0.236 0.478 0.267 6.445 0.209 . ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000248671.3|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000158483.11|ENSG00000158483.11|ENSG00000158483.11|ENSG00000158483.11|ENSG00000248671.3|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000248671.3|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000248671.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood|Whole_Blood 0.4185 0.1189 0.2687 0.5601 0.1506 0.4830 0.4944 0.4254 0.5131 0.3647 0.1172 0.3026 0.5596 0.1611 0.4888 0.4932 0.4908 hom 6579.35 209 11 71548492 . C T 6579.35 Mask AC=2;AF=1.00;AN=2;DP=209;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6263;MQ=49.28;MQ0=0;QD=31.48;VQSLOD=3.3475;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,209:209:99:6578,541,0 11 71548520 71548520 A T exonic DEFB108B nonsynonymous SNV DEFB108B:NM_001002035:exon2:c.A134T:p.H45L 0.45 0.34 0.37 0.36 0.6 0.59 0.5372 0.3693 0.3220 0.3320 0.6509 0.6006 0.5760 0.5975 0.53 0.38 0.61 0.043 0.46 rs12285495 COSM3998568 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.011 0.555 D 0.001 0.067 B 0.001 0.040 B 0.628 0.107 N 1 0.090 P . . . 2.85 0.106 T -5.63 0.868 D 0.122 0.137 -0.987 0.333 T 0.000 0.000 T . . . 0.106 0.104 3.676 0.902 0.189 0.006 0.028 N c -0.931 -1.040 0.000 0.012 0.516 0.203 0 0.238 0.147 0.631 0.241 -0.070 0.120 0.005 0.169 0.236 0.225 3.446 0.070 . ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000158483.11|ENSG00000248671.3|ENSG00000248671.3|ENSG00000158483.11|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000254978.2|ENSG00000158483.11|ENSG00000248671.3|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000254978.2|ENSG00000248671.3|ENSG00000158483.11|ENSG00000158483.11|ENSG00000158483.11|ENSG00000248671.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Whole_Blood|Whole_Blood 0.5356 0.3676 0.3375 0.6399 0.3339 0.6513 0.5981 0.5602 0.6004 0.5141 0.3623 0.3792 0.6556 0.3202 0.6609 0.5875 0.6088 hom 5550.21 186 11 71548520 . A T 5550.21 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=42.19;MQ0=3;QD=29.84;VQSLOD=2.2043;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5549,457,0 11 71945332 71945332 A G exonic INPPL1 synonymous SNV INPPL1:NM_001567:exon20:c.A2220G:p.S740S 0.16 0.3 0.12 0.15 0.075 0.083 0.0992 0.2719 0.1203 0.1558 0.1057 0.0649 0.1004 0.0826 0.13 0.27 0.061 0.22 0.082 rs61736312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0964 0.2767 0.1113 0.0707 0.1556 0.1083 0.0618 0.0915 0.0834 0.1410 0.2783 0.1193 0.0927 0.1741 0.1103 0.0707 0.0859 het 1700.49 133 11 71945332 . A G 1700.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.464;DP=133;Dels=0.00;FS=3.797;HRun=0;HaplotypeScore=3.4956;MQ=59.69;MQ0=0;MQRankSum=1.790;QD=12.79;ReadPosRankSum=-0.804;VQSLOD=5.0632;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,69:133:99:1730,0,1686 11 71948536 71948536 C G exonic INPPL1 nonsynonymous SNV INPPL1:NM_001567:exon26:c.C3248G:p.A1083G 0.16 0.3 0.12 0.15 0.075 0.083 0.0998 0.2755 0.1205 0.1538 0.1071 0.0664 0.1002 0.0834 0.12 0.25 0.058 0.22 0.041 rs11548491 COSM5984085 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.598 0.057 T 0.0 0.026 B 0.0 0.013 B 0.005 0.336 N 1.000 0.090 P -0.44 0.028 N -2.95 0.966 D 0.09 0.072 N 0.031 0.052 -1.054 0.133 T 0.000 0.000 T . . . -0.204 0.076 1.075 0.609 0.064 0.098 0.153 N c -1.010 -0.854 1.000 0.747 0.722 0.854 0 2.62 0.302 0.335 0.194 0.115 0.208 0.818 0.297 0.834 0.348 9.149 0.359 . ENSG00000110203.4|ENSG00000162129.8|ENSG00000110203.4 Lung|Testis|Whole_Blood 0.0959 0.2738 0.1106 0.0769 0.1542 0.1079 0.0616 0.0904 0.0825 0.1408 0.2770 0.1184 0.0927 0.1751 0.1100 0.0709 0.0862 het 836.74 58 11 71948536 . C G 836.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.889;DP=58;Dels=0.00;FS=1.037;HRun=4;HaplotypeScore=1.5317;MQ=58.39;MQ0=0;MQRankSum=-0.016;QD=14.43;ReadPosRankSum=-0.468;VQSLOD=5.1023;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:867,0,772 11 72288599 72288599 G A exonic PDE2A synonymous SNV PDE2A:NM_001143839:exon30:c.C2634T:p.Y878Y,PDE2A:NM_001243784:exon31:c.C2592T:p.Y864Y,PDE2A:NM_002599:exon31:c.C2655T:p.Y885Y,PDE2A:NM_001146209:exon32:c.C2628T:p.Y876Y 0.29 0.25 0.24 0.28 0.31 0.35 0.2992 0.2655 0.2506 0.2612 0.3241 0.3028 0.3240 0.3482 0.29 0.27 0.3 0.24 0.35 rs1980091 COSM1179752 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3007 0.2637 0.2594 0.3717 0.2625 0.3269 0.2999 0.3122 0.3489 0.2935 0.2710 0.2828 0.3709 0.2503 0.3167 0.3050 0.2908 het 1071.13 96 11 72288599 . G A 1071.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.112;DP=96;Dels=0.00;FS=1.771;HRun=0;HaplotypeScore=0.9993;MQ=59.29;MQ0=0;MQRankSum=-0.779;QD=11.16;ReadPosRankSum=0.920;VQSLOD=6.4880;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,42:96:99:1101,0,1475 11 72289291 72289291 T C exonic PDE2A synonymous SNV PDE2A:NM_001143839:exon29:c.A2580G:p.A860A,PDE2A:NM_001243784:exon30:c.A2538G:p.A846A,PDE2A:NM_002599:exon30:c.A2601G:p.A867A,PDE2A:NM_001146209:exon31:c.A2574G:p.A858A 0.3 0.088 0.32 0.24 0.53 0.38 0.4322 0.1591 0.2433 0.2477 0.4138 0.5342 0.4736 0.4257 0.41 0.18 0.54 0.25 0.48 rs1135029 COSM3998576;COSM3998577;COSM3998575 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4261 0.1496 0.2559 0.4815 0.2514 0.4017 0.5393 0.4542 0.4310 0.3823 0.1611 0.2983 0.4833 0.2488 0.4089 0.5172 0.4581 het 2633.63 221 11 72289291 . T C 2633.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.190;DP=221;Dels=0.00;FS=11.616;HRun=0;HaplotypeScore=5.3710;MQ=59.37;MQ0=0;MQRankSum=-1.988;QD=11.92;ReadPosRankSum=1.099;VQSLOD=2.9994;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:120,101:221:99:2664,0,3111 11 72290629 72290629 G A exonic PDE2A synonymous SNV PDE2A:NM_001143839:exon25:c.C2184T:p.I728I,PDE2A:NM_001243784:exon26:c.C2142T:p.I714I,PDE2A:NM_002599:exon26:c.C2205T:p.I735I,PDE2A:NM_001146209:exon27:c.C2178T:p.I726I 0.29 0.25 0.24 0.28 0.29 0.36 0.2988 0.2707 0.2400 0.2687 0.3277 0.2979 0.3040 0.3669 0.29 0.27 0.3 0.24 0.35 rs392565 COSM5619394;COSM5619396;COSM5619395 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2938 0.2632 0.2489 0.3536 0.2644 0.3084 0.2909 0.3032 0.3539 0.2894 0.2699 0.2775 0.3377 0.2553 0.3051 0.3014 0.2762 het 323.17 27 11 72290629 . G A 323.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.421;DP=27;Dels=0.00;FS=1.527;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.461;QD=11.97;ReadPosRankSum=-0.364;VQSLOD=6.5124;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,14:27:99:353,0,267 11 72293602 72293602 A G exonic PDE2A synonymous SNV PDE2A:NM_001143839:exon20:c.T1716C:p.D572D,PDE2A:NM_001243784:exon21:c.T1674C:p.D558D,PDE2A:NM_002599:exon21:c.T1737C:p.D579D,PDE2A:NM_001146209:exon22:c.T1710C:p.D570D 0.95 0.84 0.99 1. 1. 1. 0.9870 0.8574 0.9953 0.9997 1 0.9996 0.9956 0.9999 0.95 0.86 1. 0.92 0.99 rs4944557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9897 0.8558 0.9936 0.9979 0.9997 1 0.9996 0.9945 0.9996 0.9586 0.8553 0.9905 1 1 1 0.9997 0.9918 hom 2570.63 81 11 72293602 . A G 2570.63 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1947;MQ=59.20;MQ0=0;QD=31.74;VQSLOD=9.4030;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2604,214,0 11 72295734 72295734 C T exonic PDE2A synonymous SNV PDE2A:NM_001143839:exon17:c.G1377A:p.A459A,PDE2A:NM_001243784:exon18:c.G1335A:p.A445A,PDE2A:NM_002599:exon18:c.G1398A:p.A466A,PDE2A:NM_001146209:exon19:c.G1371A:p.A457A 0.0008 . 0.0014 . 0.003 . 0.0016 0.0003 0.0003 0 0.0025 0.0026 0 0 0.002 0.0014 0.0023 . 0.0082 rs150054293 COSM4036519;COSM4036517;COSM4036518 2(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0019 0.0006 0.0004 0.0021 0 0.0025 0.0032 0.0016 0 0.0024 0.0008 0.0012 0.0033 0 0.0020 0.0037 0.0010 het 517.41 56 11 72295734 . C T 517.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.414;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6485;MQ=59.59;MQ0=0;MQRankSum=-0.766;QD=9.24;ReadPosRankSum=-0.550;VQSLOD=4.3141;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,23:56:99:547,0,862 11 72408055 72408055 G C exonic ARAP1 nonsynonymous SNV ARAP1:NM_001135190:exon19:c.C2221G:p.Q741E,ARAP1:NM_015242:exon20:c.C2404G:p.Q802E,ARAP1:NM_001040118:exon22:c.C3139G:p.Q1047E 0.25 0.22 0.21 0.24 0.26 0.31 0.2606 0.2344 0.1723 0.2330 0.3442 0.2678 0.2639 0.2890 0.24 0.21 0.25 0.21 0.13 rs56200889 COSM429808;COSM429807 2(thyroid);3(large_intestine);2(biliary_tract) . . . . . . . . . . . 0.179 0.308 T 0.026 0.210 B 0.017 0.303 B 0.005 0.330 N 1.000 0.182 P 0.665 0.163 N 2.19 0.187 T -1.33 0.332 N 0.128 0.321 -1.015 0.253 T 0.000 0.000 T . . . 0.224 0.115 4.928 0.975 0.339 0.461 0.274 N c -0.294 -0.180 1.000 0.517 0.742 0.980 0 4.43 0.528 0.622 0.239 0.953 0.551 0.006 0.172 0.993 0.574 9.477 0.379 PH domain-like;PH domain-like|Pleckstrin homology domain;Rho GTPase activation protein|Rho GTPase-activating protein domain ENSG00000214530.3 Whole_Blood 0.2497 0.2191 0.1811 0.1931 0.2306 0.3302 0.2613 0.2480 0.2825 0.2626 0.2193 0.1850 0.2185 0.2342 0.3410 0.2755 0.2975 het 893.78 58 11 72408055 . G C 893.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.653;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8664;MQ=59.60;MQ0=0;MQRankSum=0.412;QD=15.41;ReadPosRankSum=1.081;VQSLOD=6.0879;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,30:58:99:924,0,872 11 72408657 72408657 C T exonic ARAP1 synonymous SNV ARAP1:NM_001135190:exon17:c.G1857A:p.L619L,ARAP1:NM_015242:exon18:c.G2040A:p.L680L,ARAP1:NM_001040118:exon20:c.G2775A:p.L925L 0.26 0.039 0.34 0.26 0.44 0.32 0.3780 0.0904 0.3440 0.2506 0.3652 0.4519 0.3921 0.3559 0.34 0.11 0.46 0.3 0.43 rs2291289 COSM3765600;COSM3765601 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3784 0.0851 0.3327 0.4051 0.2542 0.3537 0.4582 0.3917 0.3613 0.3164 0.0955 0.3660 0.3543 0.2531 0.3539 0.4368 0.3596 het 2561.37 209 11 72408657 . C T 2561.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.939;DP=209;Dels=0.00;FS=2.373;HRun=0;HaplotypeScore=6.2342;MQ=59.52;MQ0=0;MQRankSum=-0.738;QD=12.26;ReadPosRankSum=1.224;VQSLOD=4.5447;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,102:209:99:2591,0,2830 11 72945341 72945341 C T exonic P2RY2 nonsynonymous SNV P2RY2:NM_002564:exon3:c.C137T:p.P46L,P2RY2:NM_176071:exon3:c.C137T:p.P46L,P2RY2:NM_176072:exon3:c.C137T:p.P46L 0.91 0.9 0.96 0.88 0.92 0.9 0.9222 0.9087 0.9693 0.8860 0.9156 0.9275 0.9152 0.8983 0.92 0.91 0.93 0.83 0.93 rs2511241 COSM4146312 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.016 0.282 N 0.959 0.262 P -2.71 0.000 N 1.56 0.296 T 4.73 0.000 N 0.117 0.196 -0.955 0.402 T 0.000 0.000 T . . . 0.936 0.183 10.29 0.829 0.139 0.158 0.189 N c -0.742 -0.482 1.000 0.517 0.706 0.609 0 5.28 0.740 6.236 0.721 0.119 0.209 1.000 0.715 0.266 0.231 10.450 0.435 . . . 0.9258 0.9092 0.9668 0.9546 0.8861 0.9203 0.9278 0.9284 0.8986 0.9173 0.9024 0.9714 0.9470 0.9014 0.9190 0.9238 0.9143 hom 8014.95 248 11 72945341 . C T 8014.95 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.8066;MQ=58.65;MQ0=0;QD=32.32;VQSLOD=6.8144;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8014,623,0 11 72946020 72946020 C T exonic P2RY2 synonymous SNV P2RY2:NM_002564:exon3:c.C816T:p.R272R,P2RY2:NM_176071:exon3:c.C816T:p.R272R,P2RY2:NM_176072:exon3:c.C816T:p.R272R 0.58 0.58 0.66 0.62 0.56 0.48 0.5612 0.5658 0.6587 0.6452 0.5690 0.5519 0.5419 0.4816 0.56 0.57 0.56 0.5 0.6 rs1783596 COSM3739269 1(liver);3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5658 0.5657 0.6574 0.6044 0.6505 0.5577 0.5461 0.5733 0.4814 0.5639 0.5755 0.6328 0.5993 0.6756 0.5650 0.5400 0.5694 hom 3896.05 120 11 72946020 . C T 3896.05 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.3151;MQ=58.72;MQ0=0;QD=32.47;VQSLOD=3.4998;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3895,325,0 11 72946140 72946140 G C exonic P2RY2 nonsynonymous SNV P2RY2:NM_002564:exon3:c.G936C:p.R312S,P2RY2:NM_176071:exon3:c.G936C:p.R312S,P2RY2:NM_176072:exon3:c.G936C:p.R312S 0.27 0.012 0.41 0.54 0.23 0.3 0.2747 0.0507 0.4897 0.5572 0.2656 0.2386 0.2301 0.2667 0.18 0.059 0.24 0.22 0.17 rs3741156 COSM3752719 1(skin);1(large_intestine) . . . . . . . . . . . 0.095 0.312 T 0.015 0.158 B 0.008 0.127 B 0.044 0.236 N 0.657 0.305 P 1.65 0.424 L 1.65 0.276 T -0.52 0.162 N 0.455 0.519 -0.920 0.456 T 0.000 0.000 T . . . 0.381 0.131 6.448 0.942 0.238 0.752 0.365 D c -0.799 -0.695 0.975 0.295 0.615 0.372 0 2.16 0.265 2.016 0.404 -0.213 0.100 1.000 0.715 0.396 0.254 6.080 0.190 . . . 0.2857 0.0481 0.4688 0.1738 0.5673 0.2614 0.2414 0.2560 0.2585 0.2159 0.0522 0.4153 0.1689 0.5866 0.2674 0.2459 0.2607 hom 2029.28 65 11 72946140 . G C 2029.28 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7700;MQ=58.93;MQ0=0;QD=31.22;VQSLOD=8.8282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2062,168,0 11 72946279 72946279 T C exonic P2RY2 nonsynonymous SNV P2RY2:NM_002564:exon3:c.T1075C:p.S359P,P2RY2:NM_176071:exon3:c.T1075C:p.S359P,P2RY2:NM_176072:exon3:c.T1075C:p.S359P 0.021 0.0023 0.023 0.002 0.047 0.04 0.0371 0.0099 0.0160 0.0002 0.0352 0.0474 0.0359 0.0498 0.033 0.011 0.044 0.022 0.041 rs74472890 . . . . . . . . . . . . . 0.011 0.555 D 0.567 0.366 P 0.166 0.334 B 0.330 0.041 N 1.000 0.202 N 1.845 0.488 L -0.78 0.736 T -1.04 0.273 N 0.3 0.360 -0.972 0.367 T 0.053 0.224 T . . . 2.033 0.305 16.42 0.996 0.752 0.045 0.101 N c -0.778 -0.829 0.988 0.313 0.615 0.372 0 -0.188 0.126 1.314 0.330 1.061 0.807 0.057 0.215 0.577 0.284 7.156 0.247 . . . 0.0361 0.0084 0.0172 0.0338 0.0002 0.0377 0.0495 0.0341 0.0426 0.0313 0.0109 0.0155 0.0298 0.0006 0.0346 0.0466 0.0336 het 3945.59 250 11 72946279 . T C 3945.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.639;DP=250;DS;Dels=0.00;FS=2.827;HRun=1;HaplotypeScore=4.7304;MQ=58.65;MQ0=0;MQRankSum=0.452;QD=15.78;ReadPosRankSum=-0.081;VQSLOD=4.9523;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3352,0,3189 11 73020375 73020375 - CTC exonic ARHGEF17 nonframeshift insertion ARHGEF17:NM_014786:exon1:c.692_693insCTC:p.S235_I236insS 0.3 0.75 0.17 0.047 0.21 0.14 0.2229 0.6441 0.1276 0.0378 0.2903 0.2203 0.2097 0.1438 0.34 0.61 0.2 0.054 . rs139105330 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2086 0.6424 0.1335 0.1712 0.0350 0.2900 0.2109 0.1991 0.1407 0.3449 0.6551 0.1256 0.1821 0.0235 0.2925 0.2345 0.2577 het 1157.43 52 11 73020375 . G GCTC 1157.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.187;DP=52;FS=1.194;HRun=0;HaplotypeScore=170.8702;MQ=57.03;MQ0=0;MQRankSum=0.304;QD=22.26;ReadPosRankSum=-0.863;set=variant2 GT:AD:DP:GQ:PL 0/1:30,22:52:99:1196,0,770 11 73020846 73020846 G T exonic ARHGEF17 nonsynonymous SNV ARHGEF17:NM_014786:exon1:c.G1163T:p.R388L 0.049 0.029 0.04 0.0099 0.092 0.077 0.0829 0.0348 0.0400 0.0064 0.1538 0.1042 0.0824 0.0697 0.075 0.036 0.096 0.022 0.074 rs3741151 . . . . . . . . . . . . . 0.005 0.632 D 0.001 0.067 B 0.001 0.040 B 0.106 0.196 N 1.000 0.090 P 1.905 0.510 L -0.55 0.711 T -0.79 0.219 N 0.113 0.123 -0.880 0.498 T 0.009 0.030 T . . . 3.290 0.454 22.8 0.997 0.799 0.696 0.340 D c -0.295 -0.187 1.000 0.747 0.543 0.218 0 3.1 0.346 2.973 0.487 1.048 0.713 0.839 0.300 0.928 0.402 12.005 0.524 . ENSG00000054965.6|ENSG00000110237.3|ENSG00000257038.1 Whole_Blood|Whole_Blood|Whole_Blood 0.0812 0.0334 0.0445 0.0290 0.0059 0.1498 0.1046 0.0791 0.0699 0.0872 0.0359 0.0442 0.0265 0.0049 0.1566 0.1108 0.1283 het 1264.88 97 11 73020846 . G T 1264.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.248;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5106;MQ=59.33;MQ0=0;MQRankSum=0.884;QD=13.04;ReadPosRankSum=0.700;VQSLOD=5.0886;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,50:97:99:1295,0,1138 11 73021084 73021084 C T exonic ARHGEF17 synonymous SNV ARHGEF17:NM_014786:exon1:c.C1401T:p.I467I 0.16 0.39 0.076 0.044 0.093 0.079 0.1151 0.3406 0.0751 0.0355 0.1536 0.1046 0.0971 0.0707 0.18 0.33 0.1 0.2 0.082 rs3741149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1091 0.3473 0.0805 0.0474 0.0333 0.1499 0.1051 0.0970 0.0715 0.1769 0.3440 0.0740 0.0397 0.0235 0.1567 0.1114 0.1513 het 893.89 59 11 73021084 . C T 893.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.259;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5756;MQ=59.37;MQ0=0;MQRankSum=-0.312;QD=15.15;ReadPosRankSum=-0.175;VQSLOD=6.4253;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,32:59:99:924,0,690 11 73106237 73106237 A C exonic RELT synonymous SNV RELT:NM_032871:exon10:c.A1152C:p.P384P,RELT:NM_152222:exon10:c.A1152C:p.P384P 0.047 0.036 0.048 0.013 0.095 0.047 0.0838 0.0440 0.0425 0.0065 0.1650 0.1072 0.0826 0.0521 0.081 0.044 0.1 0.065 0.09 rs11544311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0824 0.0420 0.0458 0.0331 0.0065 0.1590 0.1081 0.0827 0.0523 0.0945 0.0452 0.0477 0.0298 0.0043 0.1666 0.1179 0.1291 het 1699.70 115 11 73106237 . A C 1699.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.608;DP=115;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=7.2470;MQ=59.11;MQ0=0;MQRankSum=0.576;QD=14.78;ReadPosRankSum=0.128;VQSLOD=4.0953;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,67:115:99:1730,0,1191 11 73106294 73106294 A C exonic RELT synonymous SNV RELT:NM_032871:exon10:c.A1209C:p.T403T,RELT:NM_152222:exon10:c.A1209C:p.T403T 0.13 0.3 0.078 0.013 0.11 0.077 0.1109 0.2683 0.0546 0.0064 0.1590 0.1139 0.1027 0.0818 0.15 0.24 0.1 0.2 0.12 rs17851510 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1062 0.2717 0.0601 0.0714 0.0065 0.1575 0.1134 0.1042 0.0813 0.1630 0.2663 0.0670 0.0695 0.0043 0.1689 0.1266 0.1531 het 1127.86 72 11 73106294 . A C 1127.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.141;DP=72;Dels=0.00;FS=5.868;HRun=1;HaplotypeScore=2.4530;MQ=59.16;MQ0=0;MQRankSum=-0.186;QD=15.66;ReadPosRankSum=-1.179;VQSLOD=5.0835;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,38:72:99:1158,0,966 11 73620537 73620537 C G exonic PAAF1 nonsynonymous SNV PAAF1:NM_001267806:exon7:c.C281G:p.A94G,PAAF1:NM_025155:exon7:c.C626G:p.A209G,PAAF1:NM_001267803:exon8:c.C575G:p.A192G,PAAF1:NM_001267804:exon8:c.C575G:p.A192G,PAAF1:NM_001267805:exon8:c.C575G:p.A192G 0.12 0.12 0.078 0.17 0.098 0.13 0.1094 0.1085 0.0834 0.1849 0.1265 0.0968 0.1101 0.1324 0.099 0.1 0.098 0.065 0.09 rs3741138 . . . . . . . . . . . . . 0.069 0.359 T 0.002 0.227 B 0.005 0.198 B 0.001 0.405 N 0.049 0.377 P 2.125 0.592 M 2.21 0.812 T -1.96 0.478 N 0.051 0.221 -1.022 0.231 T 0.002 0.007 T . . . 2.403 0.350 18.84 0.972 0.322 0.884 0.481 D c 0.019 0.057 0.381 0.200 0.706 0.609 0 4.15 0.478 2.840 0.477 -0.041 0.124 1.000 0.715 0.993 0.574 14.292 0.657 WD40 repeat\x2c conserved site|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000175581.9 Pancreas 0.1094 0.1065 0.0864 0.0703 0.1882 0.1287 0.0992 0.0990 0.1292 0.1125 0.1040 0.0740 0.0828 0.2088 0.1381 0.1032 0.1232 het 1909.07 131 11 73620537 . C G 1909.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.315;DP=131;Dels=0.00;FS=3.106;HRun=1;HaplotypeScore=0.9997;MQ=59.51;MQ0=0;MQRankSum=1.273;QD=14.57;ReadPosRankSum=0.670;VQSLOD=5.7144;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,67:131:99:1939,0,1786 11 73670645 73670645 T C exonic DNAJB13 synonymous SNV DNAJB13:NM_153614:exon3:c.T279C:p.H93H 0.6 0.9 0.57 0.45 0.48 0.51 0.5102 0.8207 0.5527 0.4773 0.4876 0.4604 0.4967 0.5128 0.58 0.8 0.46 0.62 0.48 rs653263 COSM3752724 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5056 0.8278 0.5479 0.4727 0.4737 0.4874 0.4582 0.5093 0.5120 0.5712 0.8205 0.5407 0.4536 0.4696 0.4937 0.4632 0.5081 hom 4705.94 154 11 73670645 . T C 4705.94 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5948;MQ=58.96;MQ0=0;QD=30.56;VQSLOD=8.7685;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:4705,379,0 11 73681090 73681090 C T exonic DNAJB13 synonymous SNV DNAJB13:NM_153614:exon8:c.C882T:p.F294F 0.25 0.21 0.38 0.16 0.32 0.24 0.2847 0.2214 0.3746 0.1388 0.3060 0.3098 0.2859 0.2275 0.28 0.22 0.31 0.2 0.43 rs2306819 COSM4146320;COSM4146321 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2853 0.2168 0.3655 0.2914 0.1297 0.3028 0.3068 0.3139 0.2253 0.2706 0.2136 0.3962 0.28 0.1171 0.3109 0.3014 0.3061 het 2480.95 248 11 73681090 . C T 2480.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.564;DP=248;DS;Dels=0.00;FS=1.060;HRun=2;HaplotypeScore=5.7263;MQ=57.75;MQ0=0;MQRankSum=0.129;QD=10.00;ReadPosRankSum=-1.304;VQSLOD=4.4453;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:150,97:248:99:2511,0,3633 11 74049569 74049569 A G exonic PGM2L1 synonymous SNV PGM2L1:NM_173582:exon13:c.T1710C:p.S570S 0.55 0.21 0.63 0.79 0.62 0.65 0.6208 0.2741 0.6852 0.8023 0.7144 0.6284 0.6410 0.6290 0.51 0.29 0.63 0.54 0.61 rs3867270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6328 0.2633 0.6779 0.6013 0.8107 0.7164 0.6296 0.6228 0.6305 0.5546 0.2696 0.6543 0.6026 0.8420 0.7121 0.6405 0.6405 hom 2828.75 99 11 74049569 . A G 2828.75 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.77;MQ0=0;QD=28.57;VQSLOD=8.2377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2862,235,0 11 74053547 74053547 C T exonic PGM2L1 nonsynonymous SNV PGM2L1:NM_173582:exon12:c.G1591A:p.V531I 0.74 0.76 0.71 0.8 0.68 0.73 0.7157 0.7680 0.7348 0.8064 0.7540 0.6893 0.7274 0.7120 0.71 0.76 0.69 0.76 0.68 rs592644 . . . . . . . . . . . . . 0.09 0.319 T 0.001 0.067 B 0.005 0.104 B 0.150 0.180 N 1 0.090 P 0.93 0.236 L 1.56 0.296 T 0.62 0.024 N 0.015 0.002 -0.974 0.364 T 0.000 0.000 T . . . 1.436 0.235 12.97 0.875 0.167 0.020 0.060 N c -1.220 -1.269 0.956 0.282 0.757 0.989 0 -5.47 0.024 -2.635 0.009 -0.789 0.032 0.000 0.063 0.888 0.373 15.911 0.792 Alpha-D-phosphohexomutase\x2c C-terminal ENSG00000254631.1|ENSG00000255440.1|ENSG00000149380.7|ENSG00000212961.4|ENSG00000175581.9 Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.7162 0.7680 0.7260 0.6944 0.8128 0.7540 0.6888 0.7060 0.7081 0.7294 0.7604 0.7134 0.6623 0.8428 0.7512 0.6974 0.7122 hom 2641.71 86 11 74053547 . C T 2641.71 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.03;MQ0=0;QD=30.72;VQSLOD=8.5816;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2675,211,0 11 74329615 74329615 T C exonic POLD3 synonymous SNV POLD3:NM_006591:exon6:c.T426C:p.P142P 0.45 0.57 0.44 0.32 0.32 0.55 0.3710 0.5669 0.4298 0.3195 0.2606 0.3145 0.3578 0.5072 0.41 0.57 0.32 0.42 0.34 rs4944052 COSM147289;COSM3752733 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3661 0.5706 0.4257 0.3264 0.3143 0.2587 0.3153 0.3565 0.5047 0.3766 0.5660 0.4200 0.2616 0.3259 0.2702 0.3006 0.3122 het 2112.36 188 11 74329615 . T C 2112.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.315;DP=188;Dels=0.00;FS=1.151;HRun=3;HaplotypeScore=4.6933;MQ=59.58;MQ0=0;MQRankSum=0.369;QD=11.24;ReadPosRankSum=-0.894;VQSLOD=5.3238;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,82:188:99:2142,0,2855 11 74419357 74419357 C T exonic CHRDL2 synonymous SNV CHRDL2:NM_001304417:exon2:c.G321A:p.Q107Q,CHRDL2:NM_001304416:exon3:c.G168A:p.Q56Q,CHRDL2:NM_001304390:exon4:c.G456A:p.Q152Q,CHRDL2:NM_001304391:exon4:c.G456A:p.Q152Q,CHRDL2:NM_001304415:exon4:c.G456A:p.Q152Q,CHRDL2:NM_001278473:exon5:c.G516A:p.Q172Q,CHRDL2:NM_015424:exon5:c.G516A:p.Q172Q 0.76 0.72 0.84 0.8 0.75 0.74 0.7614 0.7291 0.8739 0.8214 0.7248 0.7457 0.7422 0.7488 0.74 0.73 0.75 0.73 0.43 rs1944937 COSM1163585 1(pancreas);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7563 0.7175 0.8676 0.7319 0.8150 0.7182 0.7352 0.7394 0.7420 0.7343 0.7151 0.8517 0.7167 0.8385 0.7189 0.7304 0.7531 hom 603.94 21 11 74419357 . C T 603.94 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=28.76;VQSLOD=8.7697;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:48.15:637,48,0 11 74419378 74419378 C T exonic CHRDL2 synonymous SNV CHRDL2:NM_001304417:exon2:c.G300A:p.P100P,CHRDL2:NM_001304416:exon3:c.G147A:p.P49P,CHRDL2:NM_001304390:exon4:c.G435A:p.P145P,CHRDL2:NM_001304391:exon4:c.G435A:p.P145P,CHRDL2:NM_001304415:exon4:c.G435A:p.P145P,CHRDL2:NM_001278473:exon5:c.G495A:p.P165P,CHRDL2:NM_015424:exon5:c.G495A:p.P165P 0.33 0.13 0.57 0.54 0.38 0.18 0.3971 0.1909 0.6572 0.5573 0.4554 0.3984 0.3605 0.2267 0.31 0.18 0.38 0.34 0.15 rs7948433 COSM3752734 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3820 0.1641 0.6283 0.2579 0.5378 0.4141 0.3758 0.3652 0.2072 0.3337 0.1668 0.5955 0.2152 0.5387 0.4171 0.3738 0.3824 hom 666.07 24 11 74419378 . C T 666.07 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4725;MQ=59.03;MQ0=0;QD=27.75;VQSLOD=7.7894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:57.15:699,57,0 11 74559446 74559446 G C exonic XRRA1 nonsynonymous SNV XRRA1:NM_001270380:exon12:c.C1157G:p.T386R,XRRA1:NM_001270381:exon12:c.C593G:p.T198R,XRRA1:NM_182969:exon15:c.C1418G:p.T473R 0.28 0.15 0.49 0.51 0.28 0.089 0.2914 0.1667 0.5497 0.5415 0.3366 0.2730 0.2698 0.1121 0.23 0.16 0.26 0.25 . rs4944960 COSM3752735 1(large_intestine) . . . . . . . . . . . 0.099 0.306 T 0.691 0.592 P 0.171 0.558 B 0.422 0.046 N 1 0.090 P 1.87 0.498 L 0.76 0.507 T -1.21 0.408 N 0.073 0.155 -0.932 0.439 T 0.000 0.000 T . . . 1.027 0.192 10.81 0.958 0.274 0.097 0.152 N c -0.826 -1.056 0.998 0.368 0.563 0.310 0 -4.08 0.037 -0.002 0.128 -0.304 0.080 0.000 0.063 0.000 0.016 0.249 0.002 Leucine-rich repeat domain\x2c L domain-like ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000166435.11|ENSG00000241170.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000166435.11|ENSG00000241170.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000241170.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000242999.2|ENSG00000166435.11|ENSG00000241170.2|ENSG00000166435.11|ENSG00000166435.11|ENSG00000242999.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood 0.3041 0.1626 0.5397 0.1715 0.5428 0.3312 0.2762 0.2781 0.1119 0.2711 0.1681 0.5167 0.1325 0.5560 0.3457 0.2706 0.2951 het 473.60 58 11 74559446 . G C 473.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.993;DP=58;Dels=0.00;FS=5.792;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.415;QD=8.17;ReadPosRankSum=-0.577;VQSLOD=4.3113;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,24:58:99:504,0,979 11 74559481 74559481 C T exonic XRRA1 synonymous SNV XRRA1:NM_001270380:exon12:c.G1122A:p.P374P,XRRA1:NM_001270381:exon12:c.G558A:p.P186P,XRRA1:NM_182969:exon15:c.G1383A:p.P461P 0.28 0.095 0.5 0.51 0.32 0.1 0.3214 0.1374 0.5689 0.5453 0.3720 0.3134 0.3157 0.1399 0.25 0.13 0.3 0.25 . rs4944961 COSM4146327 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3274 0.1257 0.5528 0.2244 0.5421 0.3627 0.3115 0.3113 0.1295 0.2808 0.1271 0.5300 0.1733 0.5576 0.3722 0.3043 0.3275 het 403.59 50 11 74559481 . C T 403.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.012;DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.9915;MQ=59.54;MQ0=0;MQRankSum=2.103;QD=8.07;ReadPosRankSum=1.180;VQSLOD=5.2984;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,19:50:99:434,0,751 11 74563077 74563077 G A exonic XRRA1 synonymous SNV XRRA1:NM_001270381:exon10:c.C372T:p.C124C,XRRA1:NM_182969:exon13:c.C1197T:p.C399C 0.27 0.093 0.48 0.51 0.28 0.089 0.2887 0.1251 0.5511 0.5452 0.3390 0.2734 0.2690 0.1105 0.22 0.12 0.26 0.25 . rs2304683 COSM3752736 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3021 0.1214 0.5391 0.1717 0.5430 0.3321 0.2773 0.2782 0.1122 0.2579 0.1219 0.5120 0.1309 0.5556 0.3454 0.2703 0.2945 het 1975.44 183 11 74563077 . G A 1975.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.395;DP=183;Dels=0.00;FS=5.320;HRun=0;HaplotypeScore=9.7190;MQ=58.86;MQ0=0;MQRankSum=1.484;QD=10.79;ReadPosRankSum=1.304;VQSLOD=3.8502;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,80:183:99:2005,0,2528 11 74705696 74705696 T C exonic NEU3 synonymous SNV NEU3:NM_006656:exon2:c.T237C:p.S79S 0.7 0.61 0.8 0.77 0.8 0.58 0.7676 0.6428 0.8292 0.7771 0.8102 0.8057 0.7350 0.6243 0.76 0.67 0.81 0.67 . rs544115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7730 0.6391 0.8329 0.6766 0.7810 0.8048 0.8154 0.7584 0.6268 0.7650 0.6436 0.8329 0.67 0.7732 0.8030 0.8218 0.7986 hom 5967.39 176 11 74705696 . T C 5967.39 Mask AC=2;AF=1.00;AN=2;DP=176;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=33.91;VQSLOD=9.7399;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5967,460,0 11 74904362 74904362 T C exonic SLCO2B1 nonsynonymous SNV SLCO2B1:NM_001145212:exon6:c.T743C:p.I248T,SLCO2B1:NM_001145211:exon9:c.T1109C:p.I370T,SLCO2B1:NM_007256:exon9:c.T1175C:p.I392T 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs1621378 COSM4591827 1(bone);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 hom 4601.59 146 11 74904362 . T C 4601.59 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.685;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.0794;MQ=59.08;MQ0=0;MQRankSum=1.661;QD=31.52;ReadPosRankSum=0.522;VQSLOD=6.4513;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,145:146:99:4601,370,0 11 74994352 74994352 G A exonic ARRB1 synonymous SNV ARRB1:NM_004041:exon5:c.C333T:p.H111H,ARRB1:NM_020251:exon5:c.C333T:p.H111H 0.16 0.19 0.27 0.098 0.11 0.18 0.1478 0.1822 0.2890 0.1072 0.1216 0.1161 0.1523 0.1911 0.13 0.18 0.11 0.21 0.11 rs877711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1477 0.1797 0.2830 0.0844 0.1080 0.1229 0.1137 0.1490 0.1677 0.1333 0.1761 0.2482 0.1026 0.0903 0.1269 0.1083 0.1385 het 1610.57 108 11 74994352 . G A 1610.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.555;DP=108;Dels=0.00;FS=2.585;HRun=0;HaplotypeScore=1.8055;MQ=58.48;MQ0=0;MQRankSum=-0.341;QD=14.91;ReadPosRankSum=-1.116;VQSLOD=5.5582;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,64:108:99:1641,0,1046 11 75152243 75152243 C T exonic GDPD5 nonsynonymous SNV GDPD5:NM_001351167:exon10:c.G1024A:p.A342T,GDPD5:NM_030792:exon14:c.G1438A:p.A480T,GDPD5:NM_001351168:exon15:c.G703A:p.A235T 0.67 0.46 0.72 0.92 0.71 0.6 0.6969 0.5069 0.7041 0.9225 0.6012 0.7171 0.7101 0.6482 0.66 0.51 0.73 0.66 0.7 rs571353 COSM330244 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.537 0.094 T 0.0 0.026 B 0.001 0.040 B 0.915 0.074 N 1 0.090 P -1.1 0.010 N 0.87 0.464 T 0.55 0.030 N 0.029 0.378 -1.000 0.299 T 0.000 0.000 T . . . 1.833 0.281 15.18 0.833 0.141 0.015 0.048 N c -1.363 -1.274 1.000 0.407 0.706 0.609 0 -0.093 0.129 -0.655 0.054 -0.690 0.038 0.000 0.063 0.393 0.253 10.374 0.431 Glycerophosphodiester phosphodiesterase domain|PLC-like phosphodiesterase\x2c TIM beta/alpha-barrel domain ENSG00000158555.10|ENSG00000158555.10|ENSG00000149243.11 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7014 0.4972 0.7138 0.7673 0.9233 0.5939 0.7200 0.7156 0.6519 0.6417 0.5007 0.7231 0.7649 0.9235 0.5964 0.6942 0.6796 het 642.85 56 11 75152243 . C T 642.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.492;DP=56;Dels=0.00;FS=4.568;HRun=0;HaplotypeScore=0.6651;MQ=58.92;MQ0=0;MQRankSum=1.340;QD=11.48;ReadPosRankSum=-0.261;VQSLOD=5.9448;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,30:56:99:673,0,666 11 75277628 75277628 A G exonic SERPINH1 synonymous SNV SERPINH1:NM_001235:exon2:c.A234G:p.L78L,SERPINH1:NM_001207014:exon3:c.A234G:p.L78L 0.89 0.95 0.93 0.73 0.89 0.94 0.8995 0.9520 0.9341 0.7041 0.9366 0.8976 0.9261 0.9354 0.91 0.95 0.9 0.89 0.83 rs584961 COSM3752738 2(thyroid);5(large_intestine);1(biliary_tract) Benign|Benign not_specified|Osteogenesis_Imperfecta\x2c_Recessive RCV000175691.1|RCV000293020.1 MedGen|MedGen CN169374|CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8995 0.9524 0.9357 0.9219 0.6988 0.9288 0.8953 0.9004 0.9337 0.9125 0.9547 0.9234 0.8974 0.6955 0.9330 0.9069 0.9039 hom 755.19 24 11 75277628 . A G 755.19 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=31.47;VQSLOD=9.1075;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:63.15:788,63,0 11 75277757 75277757 C G exonic SERPINH1 synonymous SNV SERPINH1:NM_001235:exon2:c.C363G:p.S121S,SERPINH1:NM_001207014:exon3:c.C363G:p.S121S 0.37 0.46 0.38 0.21 0.3 0.49 0.3640 0.4624 0.4020 0.2130 0.3940 0.3262 0.3709 0.4836 0.35 0.43 0.3 0.33 0.18 rs650241 COSM429862 1(thyroid);1(large_intestine) Benign|Benign not_specified|Osteogenesis_Imperfecta\x2c_Recessive RCV000175690.1|RCV000395933.1 MedGen|MedGen CN169374|CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3460 0.4390 0.3757 0.2994 0.1887 0.3739 0.3108 0.3476 0.4733 0.3610 0.4383 0.3577 0.2953 0.1854 0.3700 0.3347 0.3554 het 864.24 63 11 75277757 . C G 864.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.881;DP=63;Dels=0.00;FS=3.300;HRun=0;HaplotypeScore=0.9992;MQ=59.63;MQ0=0;MQRankSum=0.117;QD=13.72;ReadPosRankSum=0.117;VQSLOD=6.7704;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,34:63:99:894,0,877 11 75277992 75277992 C T exonic SERPINH1 synonymous SNV SERPINH1:NM_001235:exon2:c.C598T:p.L200L,SERPINH1:NM_001207014:exon3:c.C598T:p.L200L 0.3 0.085 0.32 0.3 0.54 0.33 0.4400 0.1635 0.2994 0.2724 0.4388 0.5521 0.4848 0.3404 0.43 0.17 0.56 0.29 0.56 rs651581 COSM3752739 1(thyroid);5(large_intestine) Benign Osteogenesis_Imperfecta\x2c_Recessive RCV000316513.1 MedGen CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4369 0.1558 0.3141 0.5131 0.2735 0.4456 0.5555 0.4582 0.3436 0.3996 0.1636 0.3425 0.5 0.2911 0.4476 0.5349 0.4550 het 1106.42 71 11 75277992 . C T 1106.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.294;DP=71;Dels=0.00;FS=1.095;HRun=1;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;MQRankSum=-1.473;QD=15.58;ReadPosRankSum=-0.988;VQSLOD=5.4318;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,39:71:99:1136,0,907 11 75279846 75279846 C T exonic SERPINH1 synonymous SNV SERPINH1:NM_001235:exon3:c.C693T:p.T231T,SERPINH1:NM_001207014:exon4:c.C693T:p.T231T 0.38 0.48 0.38 0.21 0.3 0.49 0.3476 0.4508 0.3809 0.1952 0.3740 0.3110 0.3480 0.4763 0.35 0.44 0.3 0.4 0.25 rs649257 COSM147291 1(stomach);1(thyroid) Benign Osteogenesis_Imperfecta\x2c_Recessive RCV000262588.1 MedGen CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3450 0.4487 0.3727 0.2980 0.1876 0.3741 0.3097 0.3476 0.4732 0.3638 0.4486 0.3532 0.2967 0.1861 0.3701 0.3347 0.3563 het 1497.13 144 11 75279846 . C T 1497.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.479;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1617;MQ=59.51;MQ0=0;MQRankSum=1.070;QD=10.40;ReadPosRankSum=0.112;VQSLOD=4.8620;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,61:144:99:1527,0,2267 11 75282882 75282882 G A exonic SERPINH1 synonymous SNV SERPINH1:NM_001235:exon5:c.G1011A:p.L337L,SERPINH1:NM_001207014:exon6:c.G1011A:p.L337L 0.38 0.48 0.38 0.21 0.3 0.5 0.3487 0.4502 0.3806 0.1943 0.3745 0.3119 0.3490 0.4803 0.35 0.44 0.3 0.4 0.25 rs585821 . . Benign Osteogenesis_Imperfecta\x2c_Recessive RCV000291222.1 MedGen CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3450 0.4464 0.3724 0.2987 0.1858 0.373 0.3094 0.3461 0.4774 0.3627 0.4448 0.3532 0.2980 0.1875 0.3702 0.3348 0.3511 het 909.72 95 11 75282882 . G A 909.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.505;DP=95;Dels=0.00;FS=1.739;HRun=0;HaplotypeScore=1.6644;MQ=58.90;MQ0=0;MQRankSum=0.244;QD=9.58;ReadPosRankSum=-0.289;VQSLOD=6.5601;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,41:95:99:940,0,1432 11 75298797 75298797 A G exonic MAP6 synonymous SNV MAP6:NM_033063:exon4:c.T1749C:p.D583D 0.38 0.3 0.56 0.26 0.32 0.52 0.3568 0.2950 0.6423 0.2473 0.3495 0.3048 0.3678 0.4653 0.3 0.29 0.31 0.34 0.29 rs1231128 COSM4146331 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3702 0.2952 0.6251 0.3467 0.2363 0.3434 0.3066 0.3603 0.4635 0.3130 0.2985 0.5707 0.3523 0.2259 0.3508 0.3048 0.3459 hom 7108.02 219 11 75298797 . A G 7108.02 Mask AC=2;AF=1.00;AN=2;DP=219;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9957;MQ=59.28;MQ0=0;QD=32.46;VQSLOD=8.7517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,219:219:99:7107,584,0 11 76370792 76370792 A G exonic LRRC32 synonymous SNV LRRC32:NM_001128922:exon3:c.T1845C:p.P615P,LRRC32:NM_005512:exon3:c.T1845C:p.P615P 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.95 1. rs4304809 COSM4146334 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 0.9999 1 0.9999 1 1.0000 1 1 1.0000 0.9999 1 1 1 1 1 1 hom 4814.36 157 11 76370792 . A G 4814.36 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8455;MQ=59.28;MQ0=0;QD=30.66;VQSLOD=8.3989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:157:99:4813,385,0 11 76372052 76372052 A G exonic LRRC32 synonymous SNV LRRC32:NM_001128922:exon3:c.T585C:p.G195G,LRRC32:NM_005512:exon3:c.T585C:p.G195G 0.63 0.63 0.57 0.63 0.61 0.67 0.6115 0.6401 0.5394 0.6386 0.5191 0.6143 0.6137 0.6555 0.62 0.63 0.62 0.61 0.52 rs3740779 COSM4146336 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6115 0.6427 0.5629 0.6813 0.6451 0.5217 0.6173 0.6108 0.6522 0.6040 0.6416 0.5745 0.68 0.6650 0.5224 0.5960 0.5847 het 1579.73 148 11 76372052 . A G 1579.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.146;DP=148;Dels=0.00;FS=3.123;HRun=1;HaplotypeScore=4.7838;MQ=59.72;MQ0=0;MQRankSum=-1.575;QD=10.67;ReadPosRankSum=-0.305;VQSLOD=4.4135;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,64:148:99:1610,0,1942 11 76372418 76372418 T C exonic LRRC32 synonymous SNV LRRC32:NM_001128922:exon3:c.A219G:p.T73T,LRRC32:NM_005512:exon3:c.A219G:p.T73T 0.88 0.99 0.79 0.8 0.86 0.9 0.8669 0.9729 0.7893 0.7847 0.8098 0.8679 0.8614 0.9165 0.9 0.97 0.87 0.89 0.8 rs3740778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8627 0.9744 0.7993 0.9061 0.7903 0.8046 0.8705 0.8608 0.9168 0.8753 0.9737 0.8043 0.9073 0.8179 0.7997 0.8484 0.8245 het 837.25 67 11 76372418 . T C 837.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.772;DP=67;Dels=0.00;FS=2.108;HRun=1;HaplotypeScore=0.9933;MQ=59.72;MQ0=0;MQRankSum=-0.458;QD=12.50;ReadPosRankSum=-0.997;VQSLOD=6.5960;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,33:67:99:867,0,898 11 76506691 76506691 G A exonic TSKU nonsynonymous SNV TSKU:NM_001258210:exon2:c.G31A:p.V11M,TSKU:NM_001318477:exon2:c.G73A:p.V25M,TSKU:NM_001318478:exon2:c.G31A:p.V11M,TSKU:NM_001318479:exon2:c.G31A:p.V11M,TSKU:NM_015516:exon2:c.G31A:p.V11M 0.0002 0.0008 . . . . 0.0003 0.0004 0.0004 0 0 0.0004 0 6.078e-05 0.0004 0.0002 0.0005 . . rs202220235 . . . . . . . . . . . . . 0.078 0.339 T 0.001 0.067 B 0.001 0.040 B 0.623 0.058 N 1 0.090 N 1.1 0.281 L 0.53 0.551 T -0.64 0.227 N 0.243 0.312 -1.012 0.264 T 0.076 0.306 T 0.020 0.433 T -0.087 0.086 1.828 0.941 0.236 0.211 0.211 N c -1.162 -1.167 1.000 0.747 0.707 0.730 0 -1.92 0.072 -1.600 0.022 0.066 0.173 0.000 0.063 0.243 0.226 1.585 0.025 . . . 0.0003 0.0003 0.0004 0 0 0 0.0005 0 6.498e-05 0.0001 0 0 0 0 0 0.0003 0 het 1083.01 72 11 76506691 . G A 1083.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.338;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2367;MQ=58.13;MQ0=0;MQRankSum=-0.430;QD=15.04;ReadPosRankSum=-1.108;VQSLOD=2.9239;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:32,40:72:99:1113,0,788 11 76507403 76507403 G A exonic TSKU nonsynonymous SNV TSKU:NM_001258210:exon2:c.G743A:p.S248N,TSKU:NM_001318477:exon2:c.G785A:p.S262N,TSKU:NM_001318478:exon2:c.G743A:p.S248N,TSKU:NM_001318479:exon2:c.G743A:p.S248N,TSKU:NM_015516:exon2:c.G743A:p.S248N 0.085 0.22 0.06 0.056 0.028 0.0061 0.0476 0.2058 0.0538 0.0707 0.0366 0.0306 0.0271 0.0091 0.082 0.19 0.027 0.13 0.025 rs11236938 . . . . . . . . . . . . . 0.223 0.187 T 0.002 0.090 B 0.02 0.179 B 0.916 0.085 N 1 0.090 P -0.325 0.035 N 0.46 0.563 T -0.12 0.088 N 0.006 0.000 -1.032 0.199 T 0.000 0.000 T . . . -0.422 0.060 0.342 0.932 0.223 0.066 0.124 N c -1.103 -1.094 1.000 0.747 0.707 0.730 0 2.14 0.264 1.779 0.380 0.164 0.245 0.002 0.151 0.008 0.104 4.885 0.130 Leucine-rich repeat domain\x2c L domain-like ENSG00000261578.1 Nerve_Tibial 0.0441 0.2080 0.0553 0.0058 0.0682 0.0351 0.0305 0.0343 0.0085 0.0833 0.2030 0.0537 0 0.0704 0.0246 0.0347 0.0449 het 2068.26 162 11 76507403 . G A 2068.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.800;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9324;MQ=58.40;MQ0=0;MQRankSum=0.888;QD=12.77;ReadPosRankSum=0.462;VQSLOD=5.0388;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,79:162:99:2098,0,2220 11 76637651 76637651 G A exonic ACER3 nonsynonymous SNV ACER3:NM_018367:exon2:c.G154A:p.V52I 0.63 0.64 0.51 0.59 0.72 0.65 0.6785 0.6385 0.4610 0.6317 0.7126 0.7346 0.6740 0.6396 0.7 0.64 0.74 0.62 0.72 rs4379869 COSM1579474 1(ovary) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.348 N 1 0.588 P -0.935 0.013 N 1.01 0.411 T 0.31 0.050 N 0.1 0.193 -0.997 0.308 T 0.000 0.000 T . . . 0.529 0.145 7.650 0.371 0.024 0.094 0.150 N c -0.822 -0.571 0.821 0.245 0.706 0.609 0 2.15 0.265 1.259 0.323 -0.109 0.115 1.000 0.715 0.995 0.604 5.163 0.143 . ENSG00000078124.7|ENSG00000254988.1|ENSG00000198488.6|ENSG00000198488.6 Artery_Tibial|Esophagus_Mucosa|Esophagus_Mucosa|Stomach 0.6717 0.6334 0.4699 0.7518 0.6299 0.7101 0.7379 0.6723 0.6380 0.6924 0.6311 0.5060 0.7351 0.6317 0.7122 0.7388 0.7037 hom 2656.80 93 11 76637651 . G A 2656.80 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=28.57;VQSLOD=8.2319;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2690,205,0 11 76637680 76637680 G A exonic ACER3 synonymous SNV ACER3:NM_018367:exon2:c.G183A:p.K61K 0.5 0.19 0.47 0.59 0.71 0.65 0.6425 0.2634 0.4440 0.6317 0.7126 0.7312 0.6586 0.6378 0.58 0.29 0.73 0.46 0.7 rs4479014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6421 0.2466 0.4496 0.7295 0.6296 0.7100 0.7354 0.6550 0.6358 0.5841 0.2539 0.4820 0.7053 0.6317 0.7128 0.7376 0.6879 hom 2628.55 96 11 76637680 . G A 2628.55 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.8490;MQ=59.26;MQ0=0;QD=27.38;VQSLOD=7.4075;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2662,205,0 11 76701606 76701606 G A exonic ACER3 synonymous SNV ACER3:NM_001300953:exon5:c.G315A:p.P105P,ACER3:NM_001300955:exon5:c.G141A:p.P47P,ACER3:NM_001300954:exon6:c.G141A:p.P47P,ACER3:NM_018367:exon6:c.G426A:p.P142P 0.53 0.19 0.51 0.63 0.74 0.7 0.6798 0.2606 0.4990 0.6729 0.7785 0.7615 0.7048 0.7030 0.6 0.29 0.76 0.5 0.24 rs3740767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6806 0.2468 0.5013 0.7630 0.6699 0.7718 0.7629 0.6983 0.7000 0.6123 0.2514 0.5311 0.7483 0.6821 0.7793 0.7693 0.7281 hom 6535.17 202 11 76701606 . G A 6535.17 Mask AC=2;AF=1.00;AN=2;DP=202;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9620;MQ=59.49;MQ0=0;QD=32.35;VQSLOD=9.0884;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:6534,512,0 11 76751166 76751166 G A exonic B3GNT6 unknown UNKNOWN 0.19 0.36 0.11 0.18 0.095 0.12 0.1283 0.3400 0.1082 0.1796 0.0866 0.1001 0.1041 0.1237 0.18 0.32 0.1 0.12 . rs73493606 COSM3752741 2(large_intestine) . . . . . . . . . . . . . . 0.004 0.112 B 0.012 0.149 B 0.556 0.054 N 1 0.090 P 0.48 0.132 N . . . . . . 0.006 0.012 -0.962 0.389 T 0.000 0.000 T . . . 1.837 0.282 15.20 0.964 0.292 0.071 0.130 N c -1.064 -1.026 1.000 0.458 0.616 0.391 0 1.11 0.195 -1.582 0.022 -0.389 0.064 0.000 0.063 0.409 0.256 3.199 0.062 . . . 0.1237 0.3420 0.1049 0.0669 0.1821 0.0832 0.1016 0.1073 0.1226 0.1674 0.3389 0.0923 0.0563 0.1919 0.0930 0.0932 0.1029 het 370.65 47 11 76751166 . G A 370.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.156;DP=47;Dels=0.00;FS=3.024;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=0.398;QD=7.89;ReadPosRankSum=-0.234;VQSLOD=5.1282;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,15:47:99:401,0,782 11 76814110 76814110 G A exonic OMP synonymous SNV OMP:NM_006189:exon1:c.G225A:p.P75P 0.24 0.2 0.21 0.23 0.21 0.36 0.2206 0.1941 0.1900 0.2281 0.2467 0.2044 0.1919 0.3094 0.19 0.18 0.2 0.24 . rs2233549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2183 0.1959 0.1930 0.1798 0.2325 0.2422 0.2009 0.2139 0.3080 0.2033 0.2043 0.1730 0.1325 0.2302 0.2377 0.1926 0.2398 het 907.66 46 11 76814110 . G A 907.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.648;DP=46;Dels=0.00;FS=2.695;HRun=0;HaplotypeScore=0.8941;MQ=58.99;MQ0=0;MQRankSum=0.773;QD=19.73;ReadPosRankSum=0.375;VQSLOD=5.0587;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,31:46:99:938,0,384 11 76910766 76910766 C T exonic MYO7A synonymous SNV MYO7A:NM_000260:exon35:c.C4755T:p.S1585S,MYO7A:NM_001127180:exon35:c.C4641T:p.S1547S 0.43 0.32 0.59 0.45 0.55 0.33 0.5083 0.3376 0.6523 0.4929 0.6272 0.5339 0.4793 0.3621 0.46 0.32 0.52 0.35 . rs7927472 COSM3752746 1(large_intestine) Benign|Benign|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Nonsyndromic_Hearing_Loss\x2c_Dominant|Retinitis_pigmentosa-deafness_syndrome RCV000036162.4|RCV000296516.1|RCV000351371.1|RCV000403200.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239439|CN239435|C0271097:500004:ORPHA886:57838006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5142 0.3244 0.6429 0.4066 0.4868 0.6194 0.5382 0.4912 0.3587 0.4894 0.3220 0.6265 0.4073 0.4814 0.6244 0.5479 0.5266 het 342.80 34 11 76910766 . C T 342.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.922;DP=34;Dels=0.00;FS=3.166;HRun=0;HaplotypeScore=0.8667;MQ=58.90;MQ0=0;MQRankSum=-0.367;QD=10.08;ReadPosRankSum=0.647;VQSLOD=5.8832;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,14:34:99:373,0,564 11 76912636 76912636 A T exonic MYO7A nonsynonymous SNV MYO7A:NM_000260:exon36:c.A4996T:p.S1666C,MYO7A:NM_001127180:exon36:c.A4882T:p.S1628C 0.55 0.73 0.65 0.45 0.57 0.34 0.5440 0.6841 0.6730 0.4930 0.6320 0.5443 0.4922 0.3630 0.59 0.68 0.54 0.55 . rs2276288 COSM3752747 1(breast);1(large_intestine) Benign|Benign|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Nonsyndromic_Hearing_Loss\x2c_Dominant|Retinitis_pigmentosa-deafness_syndrome RCV000036174.4|RCV000294774.1|RCV000335830.1|RCV000389186.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239439|CN239435|C0271097:500004:ORPHA886:57838006 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 0.996 0.231 P -1.62 0.004 N 1.59 0.288 T 5.53 0.000 N 0.04 0.040 -0.953 0.405 T 0.000 0.000 T . . . -0.275 0.070 0.755 0.078 0.001 0.230 0.217 N c -0.664 -0.534 0.779 0.238 0.554 0.283 0 3.46 0.386 2.515 0.449 0.089 0.194 1.000 0.715 0.875 0.366 9.008 0.351 SH3 domain ENSG00000137474.15 Colon_Transverse 0.5503 0.6878 0.6726 0.4466 0.4893 0.6251 0.5503 0.5225 0.3665 0.6006 0.6852 0.6611 0.4503 0.4820 0.6290 0.5599 0.5586 het 1800.51 128 11 76912636 . A T 1800.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.190;DP=128;Dels=0.00;FS=3.380;HRun=0;HaplotypeScore=2.2859;MQ=58.94;MQ0=0;MQRankSum=1.022;QD=14.07;ReadPosRankSum=1.017;VQSLOD=5.8351;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,64:128:99:1831,0,1768 11 76954788 76954788 - A exonic GDPD4 frameshift insertion GDPD4:NM_182833:exon12:c.1191dupT:p.I398Yfs*6 0.25 0.051 0.19 0.26 0.37 0.45 0.3110 0.0978 0.1706 0.2351 0.2841 0.3509 0.3018 0.4333 0.27 0.1 0.36 . . rs76229203 COSM5713201;COSM5713202 3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3085 0.0905 0.1801 0.3407 0.2398 0.2815 0.3557 0.3240 0.4307 0.2513 0.0934 0.1830 0.3477 0.2281 0.2636 0.3400 0.3224 het 2371.01 121 11 76954788 . T TA 2371.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.237;DP=121;FS=1.507;HRun=1;HaplotypeScore=487.0771;MQ=59.80;MQ0=0;MQRankSum=-0.356;QD=19.60;ReadPosRankSum=-0.128;set=variant2 GT:AD:DP:GQ:PL 0/1:59,62:121:99:2410,0,1652 11 76954812 76954812 T C exonic GDPD4 nonsynonymous SNV GDPD4:NM_182833:exon12:c.A1168G:p.I390V 0.25 0.051 0.19 0.26 0.37 0.45 0.3110 0.0978 0.1704 0.2351 0.2841 0.3510 0.3018 0.4334 0.27 0.1 0.36 0.18 0.24 rs11237145 . . . . . . . . . . . . . 1.0 0.022 T 0.001 0.067 B 0.001 0.040 B 0.353 0.138 N 1 0.090 P 0.595 0.155 N 2.84 0.107 T -0.02 0.073 N 0.026 0.021 -0.989 0.329 T 0.000 0.000 T . . . -2.843 0.002 0.001 0.232 0.010 0.011 0.039 N c -2.178 -2.239 1.000 0.747 0.487 0.133 0 -8.54 0.008 -2.614 0.010 -1.483 0.011 0.000 0.063 0.000 0.016 3.147 0.060 Glycerophosphodiester phosphodiesterase domain|PLC-like phosphodiesterase\x2c TIM beta/alpha-barrel domain ENSG00000178795.5|ENSG00000149269.5 Testis|Thyroid 0.3086 0.0905 0.1801 0.3405 0.2401 0.2816 0.3558 0.3241 0.4308 0.2514 0.0930 0.1850 0.3477 0.2268 0.2637 0.3406 0.3221 het 1446.95 126 11 76954812 . T C 1446.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.729;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5130;MQ=58.97;MQ0=0;MQRankSum=-1.108;QD=11.48;ReadPosRankSum=1.103;VQSLOD=5.1623;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,61:126:99:1477,0,1735 11 76954833 76954833 G A exonic GDPD4 nonsynonymous SNV GDPD4:NM_182833:exon12:c.C1147T:p.H383Y 0.24 0.026 0.19 0.26 0.36 0.44 0.2981 0.0719 0.1641 0.2347 0.2791 0.3358 0.2885 0.4235 0.25 0.082 0.34 0.11 0.22 rs11237146 . . . . . . . . . . . . . 0.041 0.443 D 0.952 0.522 P 0.536 0.469 P 0.019 0.273 N 0.867 0.282 P 1.995 0.543 M 2.82 0.109 T -2.51 0.545 D 0.079 0.077 -0.874 0.503 T 0.000 0.000 T . . . 4.498 0.602 24.3 0.997 0.791 0.542 0.293 D c 0.201 0.144 1.000 0.436 0.487 0.133 0 3.34 0.372 3.815 0.551 1.048 0.713 1.000 0.715 0.869 0.363 10.971 0.465 Glycerophosphodiester phosphodiesterase domain|PLC-like phosphodiesterase\x2c TIM beta/alpha-barrel domain ENSG00000178795.5 Testis 0.2962 0.0651 0.1725 0.3084 0.2400 0.2766 0.3414 0.3127 0.4207 0.2370 0.0700 0.1734 0.3179 0.2265 0.2586 0.3275 0.3110 het 1480.70 119 11 76954833 . G A 1480.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.896;DP=119;Dels=0.00;FS=3.447;HRun=0;HaplotypeScore=3.3906;MQ=58.97;MQ0=0;MQRankSum=-0.657;QD=12.44;ReadPosRankSum=-0.420;VQSLOD=5.7879;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,59:119:99:1511,0,1612 11 77734209 77734209 T C exonic KCTD14 synonymous SNV KCTD14:NM_023930:exon1:c.A87G:p.P29P 0.69 0.54 0.81 0.57 0.8 0.82 0.7685 0.5686 0.8021 0.5616 0.8298 0.8038 0.7829 0.7990 0.75 0.6 0.82 0.64 0.56 rs11237362 COSM429906 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7720 0.5577 0.8012 0.8457 0.5649 0.8161 0.8028 0.7890 0.7886 0.7294 0.5710 0.8098 0.8377 0.5887 0.8184 0.8064 0.7709 hom 1864.85 63 11 77734209 . T C 1864.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.677;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;MQRankSum=1.072;QD=29.60;ReadPosRankSum=-0.852;VQSLOD=7.8611;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,62:63:99:1898,159,0 11 77825320 77825320 T C exonic ALG8 nonsynonymous SNV ALG8:NM_001007027:exon6:c.A665G:p.N222S,ALG8:NM_024079:exon6:c.A665G:p.N222S 0.15 0.044 0.2 0.094 0.23 0.22 0.1991 0.0639 0.2110 0.1020 0.1812 0.2303 0.2174 0.2065 0.18 0.074 0.23 0.15 0.18 rs665278 COSM3752755;COSM5827055 1(thyroid);1(large_intestine) other|Likely benign not_specified|Congenital_disorder_of_glycosylation RCV000082158.5|RCV000312261.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . 0.85 0.063 T 0.0 0.067 B 0.004 0.093 B 0.067 0.218 N 0.774 0.294 P -0.58 0.023 N -1.72 0.833 D -0.42 0.158 N 0.06 0.163 -1.100 0.040 T 0.000 0.000 T . . . -0.221 0.074 0.993 0.334 0.020 0.845 0.433 D c -0.605 -0.442 0.954 0.281 0.732 0.924 0 1.56 0.223 0.542 0.228 0.033 0.151 1.000 0.715 0.999 0.750 5.020 0.136 . ENSG00000246174.3|ENSG00000246174.3|ENSG00000246174.3|ENSG00000246174.3 Adrenal_Gland|Colon_Transverse|Heart_Atrial_Appendage|Thyroid 0.2024 0.0596 0.2138 0.3037 0.1013 0.1803 0.2275 0.2126 0.2082 0.1724 0.0593 0.2148 0.3179 0.0988 0.1884 0.2349 0.2057 het 670.60 57 11 77825320 . T C 670.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.310;DP=57;Dels=0.00;FS=9.624;HRun=0;HaplotypeScore=2.8917;MQ=59.60;MQ0=0;MQRankSum=-1.167;QD=11.76;ReadPosRankSum=-0.455;VQSLOD=4.3231;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,24:57:99:701,0,823 11 77921527 77921527 G C exonic USP35 nonsynonymous SNV USP35:NM_020798:exon10:c.G2626C:p.A876P 0.85 1. 0.92 0.66 0.96 0.68 0.8926 0.9899 0.8874 0.6470 0.8440 0.9554 0.87 0.7334 0.97 0.99 0.96 0.88 1. rs2512526 COSM4417721;COSM4417722 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.033 T 0.0 0.131 B 0.0 0.149 B 0.073 0.213 N 1 0.090 P -0.62 0.022 N 3.13 0.080 T 1.44 0.010 N 0.04 0.029 -0.981 0.347 T 0.000 0.000 T . . . 0.840 0.174 9.707 0.676 0.082 0.016 0.051 N c -1.335 -1.235 0.703 0.227 0.660 0.495 0 1.51 0.220 -0.241 0.089 0.038 0.153 0.000 0.063 0.004 0.083 4.474 0.111 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain . . 0.8931 0.9906 0.8978 0.9575 0.6517 0.8468 0.9589 0.9141 0.7454 0.9330 0.9890 0.9033 0.9536 0.6599 0.8480 0.9529 0.9033 hom 6760.12 206 11 77921527 . G C 6760.12 Mask AC=2;AF=1.00;AN=2;DP=206;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.7825;MQ=58.29;MQ0=0;QD=32.82;VQSLOD=5.8926;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,204:206:99:6759,533,0 11 78277277 78277277 A G exonic NARS2 synonymous SNV NARS2:NM_024678:exon4:c.T414C:p.Y138Y 0.65 0.6 0.6 0.58 0.77 0.71 0.7162 0.6273 0.5564 0.5740 0.6928 0.7831 0.7137 0.6978 0.73 0.62 0.79 0.67 0.79 rs10751296 COSM5654196 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000426158.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7069 0.6202 0.5697 0.6806 0.5699 0.6913 0.7904 0.7124 0.6902 0.7095 0.6130 0.5962 0.6821 0.5794 0.6898 0.7904 0.7194 hom 2702.25 84 11 78277277 . A G 2702.25 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=32.17;VQSLOD=9.7280;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2735,214,0 11 78279790 78279790 T G exonic NARS2 nonsynonymous SNV NARS2:NM_024678:exon3:c.A260C:p.N87T 0.71 0.78 0.62 0.6 0.77 0.74 0.7382 0.7811 0.5643 0.5910 0.7014 0.7894 0.7324 0.7182 0.79 0.78 0.8 0.74 0.63 rs10501429 COSM3931450 1(urinary_tract);1(large_intestine) Benign not_specified RCV000444244.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.039 0.243 N 1.000 0.810 P -1.945 0.002 N 2.07 0.204 T 1.48 0.012 N 0.114 0.124 -0.955 0.400 T 0.000 0.000 T . . . 0.470 0.139 7.196 0.397 0.027 0.013 0.044 N c -0.970 -0.708 1.000 0.517 0.732 0.924 0 4.45 0.532 1.900 0.392 0.073 0.181 0.991 0.370 0.947 0.422 13.672 0.617 Nucleic acid-binding\x2c OB-fold|OB-fold nucleic acid binding domain\x2c AA-tRNA synthetase-type ENSG00000137513.5|ENSG00000137513.5|ENSG00000137513.5|ENSG00000137513.5|ENSG00000137513.5|ENSG00000137513.5|ENSG00000137513.5|ENSG00000254420.1|ENSG00000254420.1|ENSG00000137513.5|ENSG00000137513.5|ENSG00000137513.5|ENSG00000137513.5|ENSG00000137513.5|ENSG00000137513.5|ENSG00000254420.1|ENSG00000137513.5|ENSG00000137513.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.7275 0.7771 0.5841 0.7395 0.5857 0.6999 0.7936 0.7299 0.7128 0.7592 0.7693 0.6151 0.7633 0.5887 0.6984 0.7950 0.7363 hom 2437.75 82 11 78279790 . T G 2437.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.648;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5415;MQ=58.26;MQ0=0;MQRankSum=1.648;QD=29.73;ReadPosRankSum=1.690;VQSLOD=7.0888;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,81:82:99:2471,190,0 11 78372536 78372536 G A exonic TENM4 synonymous SNV TENM4:NM_001098816:exon33:c.C7509T:p.L2503L 0.38 0.27 0.43 0.19 0.67 0.4 0.5518 0.3056 0.3821 0.1899 0.5968 0.6755 0.5385 0.4452 0.55 0.31 0.67 0.36 . rs2277277 COSM4146355;COSM4146356 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5268 0.2773 0.3673 0.6561 0.1758 0.5830 0.6670 0.5590 0.4245 0.5084 0.2856 0.4272 0.6656 0.1817 0.5781 0.6539 0.5755 hom 1035.64 31 11 78372536 . G A 1035.64 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.41;VQSLOD=13.5453;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:90.26:1069,90,0 11 78433746 78433746 G A exonic TENM4 nonsynonymous SNV TENM4:NM_001098816:exon24:c.C3767T:p.P1256L . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.009 0.574 D 0.518 0.356 P 0.115 0.303 B 0.000 0.843 D 1 0.810 D 2.435 0.708 M -2.58 0.898 D -6.1 0.900 D 0.586 0.614 0.134 0.848 D 0.625 0.868 D 0.098 0.769 D 3.651 0.496 23.2 0.997 0.811 0.994 0.958 D c 0.475 0.595 1.000 0.747 0.554 0.283 0 5.64 0.864 9.740 0.980 1.048 0.713 1.000 0.715 0.999 0.750 19.895 0.969 Six-bladed beta-propeller\x2c TolB-like . . . . . . . . . . . . . . . . . . . het 2560.65 203 11 78433746 . G A 2560.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.691;DP=203;Dels=0.00;FS=2.585;HRun=0;HaplotypeScore=4.3999;MQ=58.40;MQ0=0;MQRankSum=0.186;QD=12.61;ReadPosRankSum=1.290;VQSLOD=3.5726;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:105,97:203:99:2591,0,2766 11 78433753 78433753 T C exonic TENM4 nonsynonymous SNV TENM4:NM_001098816:exon24:c.A3760G:p.I1254V . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.064 0.365 T 0.913 0.485 P 0.891 0.614 P 0.000 0.843 D 1.000 0.588 D 0.815 0.209 L -2.66 0.903 D -0.57 0.172 N 0.568 0.602 0.430 0.896 D 0.727 0.907 D 0.040 0.595 D 2.225 0.329 17.67 0.999 0.984 0.990 0.900 D c 0.580 0.636 1.000 0.747 0.554 0.283 0 5.64 0.864 7.810 0.845 1.061 0.807 1.000 0.715 0.998 0.697 16.024 0.802 Six-bladed beta-propeller\x2c TolB-like . . . . . . . . . . . . . . . . . . . het 2285.48 176 11 78433753 . T C 2285.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.766;DP=176;Dels=0.00;FS=2.081;HRun=2;HaplotypeScore=2.4303;MQ=58.72;MQ0=0;MQRankSum=0.960;QD=12.99;ReadPosRankSum=0.846;VQSLOD=4.6023;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,86:176:99:2315,0,2300 11 78443586 78443586 G A exonic TENM4 synonymous SNV TENM4:NM_001098816:exon21:c.C2913T:p.I971I 0.12 0.021 0.18 0.083 0.25 0.12 0.2099 0.0541 0.1655 0.0530 0.2589 0.2716 0.1918 0.1393 0.19 0.055 0.25 0.065 . rs17826919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2005 0.0495 0.1676 0.2213 0.0512 0.2534 0.2615 0.2169 0.1271 0.1871 0.0486 0.1957 0.2119 0.0462 0.2557 0.2635 0.2255 het 427.28 33 11 78443586 . G A 427.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.856;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=57.95;MQ0=0;MQRankSum=-2.349;QD=12.95;ReadPosRankSum=0.382;VQSLOD=4.6688;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,19:33:99:457,0,373 11 78449583 78449583 G A exonic TENM4 nonsynonymous SNV TENM4:NM_001098816:exon20:c.C2789T:p.T930I 0.0036 . 0.0072 . 0.012 0.001 0.0076 0.0016 0.0043 0 0.0077 0.0113 0.0068 0.0019 0.0082 0.002 0.011 . . rs76283314 COSM3687668;COSM3687669 1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 0.651 0.388 P 0.198 0.351 B 0.000 0.843 D 1 0.810 D 2.345 0.676 M 2.53 0.140 T -4.17 0.754 D 0.35 0.411 -1.063 0.109 T 0.044 0.187 T . . . 6.149 0.848 28.4 0.999 0.949 0.990 0.900 D c 0.584 0.640 1.000 0.747 0.615 0.372 0 5.08 0.682 10.003 0.997 1.048 0.713 1.000 0.715 1.000 0.888 19.033 0.929 Carboxypeptidase-like\x2c regulatory domain . . 0.0076 0.0016 0.0052 0.0105 0 0.0076 0.0117 0.0051 0.0020 0.0071 0.0018 0.0072 0.0166 0 0.0066 0.0109 0.0071 het 1019.98 93 11 78449583 . G A 1019.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.715;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;MQRankSum=1.789;QD=10.97;ReadPosRankSum=-2.510;VQSLOD=4.7779;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,40:93:99:1050,0,1359 11 82564294 82564294 T G exonic PRCP nonsynonymous SNV PRCP:NM_001319214:exon2:c.A21C:p.E7D,PRCP:NM_005040:exon3:c.A336C:p.E112D,PRCP:NM_199418:exon4:c.A399C:p.E133D 0.14 0.11 0.13 0.11 0.19 0.17 0.1581 0.1249 0.0956 0.1035 0.1462 0.1777 0.1774 0.1763 0.16 0.13 0.18 0.15 0.24 rs2229437 COSM4827983;COSM4827984 1(cervix) . . . . . . . . . . . 0.009 0.574 D 0.001 0.234 B 0.005 0.275 B 0.000 0.843 D 0.002 0.513 P 2.485 0.726 M 2.4 0.156 T -2.68 0.593 D 0.271 0.530 -1.042 0.168 T 0.000 0.000 T . . . 3.030 0.424 22.3 0.993 0.581 0.816 0.407 D c -0.203 -0.093 0.975 0.295 0.706 0.609 0 2.94 0.330 0.362 0.199 0.135 0.219 0.993 0.376 0.998 0.697 7.228 0.250 Alpha/Beta hydrolase fold ENSG00000165490.8|ENSG00000165490.8|ENSG00000137509.6 Adipose_Subcutaneous|Muscle_Skeletal|Testis 0.1554 0.1226 0.0966 0.1982 0.1079 0.1507 0.1754 0.1791 0.1751 0.1489 0.1268 0.1301 0.2152 0.1088 0.1535 0.1638 0.1643 het 755.73 78 11 82564294 . T G 755.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.912;DP=78;Dels=0.00;FS=5.961;HRun=1;HaplotypeScore=0.9973;MQ=58.54;MQ0=0;MQRankSum=0.448;QD=9.69;ReadPosRankSum=1.547;VQSLOD=4.5302;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,34:78:99:786,0,1024 11 82643760 82643760 G T exonic DDIAS nonsynonymous SNV DDIAS:NM_145018:exon6:c.G1380T:p.R460S 0.31 0.18 0.4 0.32 0.36 0.34 0.3483 0.2171 0.4080 0.3263 0.3812 0.3571 0.3466 0.3522 0.31 0.22 0.35 0.2 0.45 rs7947780 COSM3752778 1(skin);1(large_intestine) . . . . . . . . . . . 0.006 0.614 D 0.048 0.207 B 0.014 0.158 B 0.226 0.160 N 1 0.204 P 1.195 0.303 L 1.12 0.387 T -1.58 0.381 N 0.272 0.336 -0.967 0.378 T 0.000 0.000 T . . . 0.305 0.123 5.739 0.903 0.190 0.153 0.187 N c -0.742 -0.761 1.000 0.400 0.732 0.924 0 2.37 0.282 0.109 0.151 0.154 0.240 0.001 0.137 0.175 0.211 5.656 0.168 . ENSG00000137502.5|ENSG00000165490.8|ENSG00000165490.8|ENSG00000137502.5|ENSG00000165490.8 Adipose_Subcutaneous|Artery_Tibial|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial 0.3539 0.2121 0.4017 0.3868 0.3420 0.3737 0.3537 0.3643 0.3531 0.3222 0.2221 0.3759 0.33 0.3261 0.3812 0.3607 0.3592 het 1152.95 99 11 82643760 . G T 1152.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.245;DP=99;Dels=0.00;FS=2.646;HRun=2;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;MQRankSum=0.613;QD=11.65;ReadPosRankSum=-0.242;VQSLOD=6.4447;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,47:99:99:1183,0,1479 11 82644904 82644904 G A exonic DDIAS nonsynonymous SNV DDIAS:NM_145018:exon6:c.G2524A:p.V842I 0.55 0.77 0.64 0.34 0.5 0.48 0.5169 0.7355 0.6352 0.3364 0.4847 0.4998 0.4922 0.4745 0.58 0.73 0.5 0.56 0.65 rs7130899 COSM3752779 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.107 0.026 N 1 0.090 P -0.975 0.012 N 2.56 0.137 T 0.27 0.043 N 0.008 0.000 -0.977 0.356 T 0.000 0.000 T . . . -2.035 0.008 0.001 0.543 0.050 0.026 0.071 N c -1.757 -1.776 0.999 0.379 0.732 0.924 0 -8.02 0.010 -0.572 0.059 -0.746 0.035 0.000 0.063 0.006 0.095 2.778 0.050 . ENSG00000137502.5|ENSG00000165490.8|ENSG00000165490.8|ENSG00000165490.8|ENSG00000165490.8|ENSG00000165490.8|ENSG00000165490.8|ENSG00000165490.8|ENSG00000242279.1|ENSG00000165490.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.5168 0.7374 0.6289 0.5294 0.3526 0.4795 0.4951 0.5282 0.4768 0.5601 0.7332 0.6110 0.5331 0.3389 0.4891 0.5014 0.4980 het 438.50 44 11 82644904 . G A 438.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.974;DP=44;Dels=0.00;FS=3.327;HRun=0;HaplotypeScore=1.9536;MQ=58.62;MQ0=0;MQRankSum=-0.298;QD=9.97;ReadPosRankSum=-0.895;VQSLOD=5.7442;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,18:44:99:468,0,735 11 82973004 82973004 C T exonic CCDC90B synonymous SNV CCDC90B:NM_001286120:exon7:c.G369A:p.S123S,CCDC90B:NM_001286118:exon8:c.G420A:p.S140S,CCDC90B:NM_001286116:exon9:c.G687A:p.S229S,CCDC90B:NM_001286117:exon9:c.G411A:p.S137S,CCDC90B:NM_001286119:exon9:c.G420A:p.S140S,CCDC90B:NM_021825:exon9:c.G714A:p.S238S 0.47 0.63 0.33 0.35 0.41 0.53 0.4151 0.5866 0.2735 0.3228 0.3905 0.4141 0.3866 0.4703 0.47 0.59 0.41 0.53 0.41 rs8789 COSM5420057;COSM3752782 3(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.277 0.156 T . . . . . . . . . 0 0.810 P . . . 0.93 0.441 T -0.53 0.164 N . . -0.972 0.368 T 0.000 0.000 T . . . 2.125 0.316 17.02 0.855 0.154 0.003 0.014 N c -1.084 -1.242 1.000 0.446 0.732 0.924 0 -10.4 0.003 -3.185 0.006 -1.829 0.006 0.001 0.137 0.946 0.421 5.236 0.147 . ENSG00000137500.5|ENSG00000137500.5|ENSG00000137500.5|ENSG00000137494.9|ENSG00000137500.5|ENSG00000137500.5|ENSG00000137494.9|ENSG00000137500.5|ENSG00000137500.5|ENSG00000137500.5|ENSG00000137500.5|ENSG00000137500.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Sigmoid|Nerve_Tibial|Spleen 0.3960 0.5734 0.2654 0.4328 0.3107 0.3837 0.4063 0.4022 0.4536 0.4484 0.5851 0.3165 0.4073 0.3134 0.4021 0.4043 0.4182 het 1881.94 158 11 82973004 . C T 1881.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.819;DP=158;DS;Dels=0.00;FS=4.384;HRun=0;HaplotypeScore=1.9755;MQ=59.40;MQ0=0;MQRankSum=0.153;QD=11.91;ReadPosRankSum=-2.142;VQSLOD=5.1867;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,74:158:99:1912,0,2091 11 82996986 82996986 A C exonic CCDC90B nonsynonymous SNV CCDC90B:NM_021825:exon1:c.T30G:p.F10L 0.68 0.88 0.48 0.58 0.67 0.65 0.6611 0.8436 0.3949 0.5607 0.7407 0.6952 0.6679 0.6178 0.74 0.84 0.68 0.76 0.57 rs494791 COSM4146380 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.421 N 1 0.281 P -1.04 0.011 N 1.88 0.239 T 1.6 0.007 N 0.068 0.379 -1.019 0.239 T 0.000 0.000 T . . . -1.503 0.017 0.003 0.507 0.044 0.006 0.027 N c -1.692 -1.620 1.000 0.747 0.442 0.072 0 -1.9 0.072 -1.210 0.031 -0.476 0.054 0.000 0.063 0.000 0.016 9.130 0.358 . ENSG00000255234.1 Pancreas 0.6389 0.8411 0.4031 0.7008 0.5541 0.7253 0.6849 0.6552 0.5988 0.7241 0.8401 0.4749 0.6656 0.5737 0.7436 0.6859 0.6871 het 327.62 37 11 82996986 . A C 327.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.471;DP=37;Dels=0.00;FS=3.093;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=1.444;QD=8.85;ReadPosRankSum=-0.770;VQSLOD=6.0356;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,15:37:99:358,0,502 11 85420401 85420401 G A exonic SYTL2 nonsynonymous SNV SYTL2:NM_206930:exon3:c.C266T:p.A89V,SYTL2:NM_001162952:exon4:c.C179T:p.A60V,SYTL2:NM_001289610:exon5:c.C179T:p.A60V,SYTL2:NM_206929:exon6:c.C299T:p.A100V,SYTL2:NM_001162951:exon12:c.C1973T:p.A658V,SYTL2:NM_001162953:exon12:c.C1976T:p.A659V,SYTL2:NM_001289608:exon13:c.C1877T:p.A626V,SYTL2:NM_032943:exon13:c.C1901T:p.A634V 0.014 0.0008 0.037 0.004 0.024 0.013 0.0248 0.0032 0.0608 0.0014 0.0458 0.0235 0.0231 0.0220 0.017 0.0045 0.023 0.011 0.057 rs61740616 . . . . . . . . . . . . . 0.155 0.241 T 0.127 0.764 B 0.03 0.679 B 0.000 0.843 N 1.000 0.588 D 1.54 0.390 L -0.36 0.688 T -1.94 0.514 N 0.167 0.430 -0.736 0.587 T 0.105 0.384 T . . . 3.660 0.497 23.2 0.996 0.760 0.947 0.619 D c 0.000 0.145 1.000 0.747 0.615 0.372 0 5.27 0.737 3.412 0.522 0.136 0.221 1.000 0.715 0.947 0.422 15.895 0.790 C2 domain;C2 domain|Synaptotagmin . . 0.0270 0.0031 0.0580 0.0255 0.0009 0.0460 0.0226 0.0252 0.0225 0.0230 0.0047 0.0585 0.0298 0.0006 0.0456 0.0275 0.0419 het 2130.48 221 11 85420401 . G A 2130.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DP=221;Dels=0.00;FS=0.504;HRun=0;HaplotypeScore=3.9100;MQ=59.20;MQ0=0;MQRankSum=0.379;QD=9.64;ReadPosRankSum=0.388;VQSLOD=5.8872;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:130,91:221:99:2160,0,3331 11 85445734 85445734 T C exonic SYTL2 nonsynonymous SNV SYTL2:NM_001162951:exon6:c.A635G:p.Q212R,SYTL2:NM_001162953:exon6:c.A638G:p.Q213R,SYTL2:NM_001289608:exon6:c.A491G:p.Q164R,SYTL2:NM_032943:exon7:c.A635G:p.Q212R 0.014 0.0008 0.033 0.004 0.026 0.016 0.0254 0.0035 0.0611 0.0014 0.0458 0.0240 0.0254 0.0242 0.017 0.0045 0.023 0.011 0.066 rs35751209 . . . . . . . . . . . . . 0.008 0.586 D 0.799 0.429 P 0.297 0.424 B . . . 1 0.090 N 2.48 0.723 M 1.78 0.273 T -1.11 0.287 N 0.153 0.210 -1.083 0.067 T 0.030 0.128 T . . . -0.974 0.033 0.018 0.533 0.048 0.093 0.149 N c -0.387 -0.480 0.081 0.159 0.554 0.246 0 4.22 0.490 0.123 0.154 0.964 0.580 0.033 0.204 0.022 0.137 7.465 0.263 . . . 0.0276 0.0032 0.0580 0.0256 0.0008 0.0465 0.0229 0.0255 0.0256 0.0233 0.0049 0.0597 0.0298 0.0006 0.0464 0.0277 0.0418 het 925.95 92 11 85445734 . T C 925.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.763;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.021;QD=10.06;ReadPosRankSum=1.053;VQSLOD=10.7379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,41:92:99:956,0,1294 11 85447611 85447611 T C exonic SYTL2 synonymous SNV SYTL2:NM_001162951:exon5:c.A516G:p.S172S,SYTL2:NM_001162953:exon5:c.A519G:p.S173S,SYTL2:NM_001289608:exon5:c.A372G:p.S124S,SYTL2:NM_032943:exon6:c.A516G:p.S172S 0.65 0.82 0.57 0.62 0.66 0.52 0.6528 0.7903 0.5593 0.6245 0.7144 0.6718 0.6446 0.5458 0.7 0.79 0.66 0.66 0.69 rs680498 COSM5424361 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6466 0.7932 0.5707 0.6643 0.6198 0.7114 0.6673 0.6342 0.5443 0.7083 0.7904 0.5947 0.7020 0.6137 0.7167 0.6771 0.6806 hom 1404.22 51 11 85447611 . T C 1404.22 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.06;MQ0=0;QD=27.53;VQSLOD=7.0423;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1437,108,0 11 85456703 85456703 T C exonic SYTL2 synonymous SNV SYTL2:NM_001162951:exon3:c.A366G:p.E122E,SYTL2:NM_001162953:exon3:c.A366G:p.E122E,SYTL2:NM_001289608:exon3:c.A222G:p.E74E,SYTL2:NM_032943:exon4:c.A366G:p.E122E 0.55 0.48 0.5 0.61 0.63 0.51 0.6012 0.4952 0.4849 0.6231 0.6689 0.6479 0.6038 0.5216 0.59 0.51 0.63 0.46 0.65 rs647912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5990 0.4982 0.5020 0.6325 0.6188 0.6653 0.6450 0.5920 0.5199 0.6028 0.4969 0.5107 0.6689 0.6137 0.6710 0.6499 0.6219 het 2703.18 183 11 85456703 . T C 2703.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.197;DP=183;DS;Dels=0.00;FS=0.576;HRun=1;HaplotypeScore=5.5871;MQ=59.39;MQ0=0;MQRankSum=-1.171;QD=14.77;ReadPosRankSum=-1.202;VQSLOD=4.5240;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,91:183:99:2733,0,2743 11 85627108 85627108 T C exonic CCDC83 synonymous SNV CCDC83:NM_001286159:exon10:c.T912C:p.S304S,CCDC83:NM_173556:exon11:c.T1005C:p.S335S 0.13 0.14 0.16 . 0.26 0.076 0.1943 0.1464 0.1046 0.0006 0.3293 0.2563 0.2058 0.0831 0.21 0.15 0.24 0.18 0.19 rs7927222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1952 0.1412 0.1135 0.2587 0.0007 0.3289 0.2545 0.2212 0.0817 0.2136 0.1485 0.1301 0.2616 0.0012 0.3249 0.2511 0.2301 het 3904.78 246 11 85627108 . T C 3904.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.599;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1760;MQ=59.18;MQ0=0;MQRankSum=-0.066;QD=15.87;ReadPosRankSum=1.603;VQSLOD=5.4627;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:120,126:246:99:3350,0,2709 11 85692181 85692181 A C exonic PICALM synonymous SNV PICALM:NM_001008660:exon16:c.T1620G:p.A540A,PICALM:NM_001206947:exon16:c.T1467G:p.A489A,PICALM:NM_001206946:exon17:c.T1749G:p.A583A,PICALM:NM_007166:exon17:c.T1770G:p.A590A 0.62 0.61 0.58 0.66 0.59 0.67 0.5984 0.6140 0.6410 0.6710 0.4943 0.5753 0.5850 0.6564 0.6 0.62 0.6 0.63 0.52 rs694353 . . Benign not_specified RCV000454453.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5962 0.6135 0.6455 0.4949 0.6608 0.4978 0.5816 0.5941 0.6554 0.5920 0.6162 0.6205 0.4867 0.6337 0.4943 0.5985 0.5644 het 985.21 81 11 85692181 . A C 985.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.875;DP=81;Dels=0.00;FS=0.901;HRun=1;HaplotypeScore=0.9916;MQ=58.42;MQ0=0;MQRankSum=-0.043;QD=12.16;ReadPosRankSum=-0.591;VQSLOD=5.6670;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,38:81:99:1015,0,1091 11 85725937 85725937 C T exonic PICALM synonymous SNV PICALM:NM_001008660:exon5:c.G522A:p.Q174Q,PICALM:NM_001206946:exon5:c.G522A:p.Q174Q,PICALM:NM_001206947:exon5:c.G369A:p.Q123Q,PICALM:NM_007166:exon5:c.G522A:p.Q174Q 0.79 0.92 0.73 0.68 0.82 0.74 0.7861 0.8928 0.7358 0.6935 0.8164 0.7981 0.7775 0.7415 0.83 0.89 0.8 0.85 0.57 rs592297 COSM5420289;COSM5420288 1(pancreas) Benign not_specified RCV000455901.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7791 0.8892 0.7428 0.7383 0.6771 0.8182 0.7978 0.795 0.7318 0.8220 0.8920 0.7399 0.7318 0.6526 0.8134 0.8095 0.7955 hom 824.81 30 11 85725937 . C T 824.81 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9831;MQ=57.25;MQ0=0;QD=27.49;VQSLOD=5.7003;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:63.21:858,63,0 11 85968623 85968623 C T exonic EED synonymous SNV EED:NM_001308007:exon6:c.C619T:p.L207L,EED:NM_001330334:exon6:c.C619T:p.L207L,EED:NM_003797:exon6:c.C619T:p.L207L 0.29 0.12 0.26 0.31 0.42 0.41 0.3724 0.1669 0.2637 0.3719 0.4391 0.4104 0.3894 0.3965 0.32 0.18 0.4 0.27 0.27 rs974144 COSM429983 16(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3669 0.1620 0.2652 0.3091 0.3610 0.4306 0.4113 0.3679 0.3936 0.3452 0.1770 0.2590 0.3046 0.3387 0.4218 0.4264 0.4252 het 659.27 55 11 85968623 . C T 659.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.597;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;MQRankSum=1.090;QD=11.99;ReadPosRankSum=-1.192;VQSLOD=6.8497;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,25:55:99:689,0,769 11 86098680 86098680 T C exonic CCDC81 synonymous SNV CCDC81:NM_001156474:exon3:c.T264C:p.I88I,CCDC81:NM_021827:exon3:c.T264C:p.I88I 0.66 0.76 0.46 0.69 0.58 0.73 0.6021 0.7356 0.4202 0.7102 0.6436 0.5748 0.6090 0.6826 0.62 0.73 0.56 0.7 0.52 rs292109 COSM4415372;COSM4415371 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5939 0.7339 0.4288 0.6553 0.7086 0.6412 0.5661 0.5943 0.6872 0.6242 0.7300 0.4450 0.6755 0.6990 0.6256 0.5625 0.6342 het 1644.23 136 11 86098680 . T C 1644.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.822;DP=136;Dels=0.00;FS=4.967;HRun=1;HaplotypeScore=4.6976;MQ=58.78;MQ0=0;MQRankSum=1.435;QD=12.09;ReadPosRankSum=0.861;VQSLOD=4.9997;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,60:136:99:1674,0,1868 11 86123467 86123467 G A exonic CCDC81 synonymous SNV CCDC81:NM_021827:exon10:c.G987A:p.A329A,CCDC81:NM_001156474:exon11:c.G1257A:p.A419A 0.32 0.22 0.4 0.27 0.39 0.39 0.3597 0.2385 0.3771 0.2604 0.2782 0.3837 0.3733 0.4122 0.34 0.25 0.39 0.37 0.3 rs3741006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3627 0.2346 0.3770 0.3923 0.2673 0.2811 0.3915 0.3854 0.4063 0.3210 0.2285 0.3565 0.4205 0.2969 0.2780 0.3807 0.3640 het 2189.41 186 11 86123467 . G A 2189.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.144;DP=186;Dels=0.00;FS=0.539;HRun=0;HaplotypeScore=6.6499;MQ=57.72;MQ0=1;MQRankSum=-0.221;QD=11.77;ReadPosRankSum=-1.349;VQSLOD=4.0363;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:98,88:186:99:2219,0,2399 11 86161388 86161388 C G exonic ME3 nonsynonymous SNV ME3:NM_001014811:exon8:c.G972C:p.K324N,ME3:NM_001161586:exon9:c.G972C:p.K324N,ME3:NM_006680:exon9:c.G972C:p.K324N 0.3 0.22 0.35 0.27 0.33 0.36 0.3157 0.2327 0.3641 0.2592 0.2276 0.3205 0.3293 0.3776 0.3 0.23 0.34 0.36 0.26 rs1042780 COSM147300 1(stomach);2(large_intestine) . . . . . . . . . . . 0.168 0.233 T 0.008 0.135 B 0.028 0.201 B 0.020 0.272 N 0.001 0.466 P 1.14 0.291 L 0.99 0.418 T -1.93 0.448 N 0.061 0.089 -0.949 0.412 T 0.000 0.000 T . . . 2.742 0.391 21.1 0.994 0.649 0.945 0.612 D c -0.429 -0.259 0.796 0.241 0.706 0.609 0 2.51 0.293 2.093 0.411 0.059 0.165 1.000 0.715 0.998 0.697 8.001 0.293 Malic enzyme\x2c NAD-binding|NAD(P)-binding domain . . 0.3199 0.2275 0.3591 0.3548 0.2658 0.2299 0.3270 0.3363 0.3790 0.2803 0.2185 0.3305 0.38 0.2983 0.2285 0.3201 0.3047 het 1032.94 81 11 86161388 . C G 1032.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.426;DP=81;Dels=0.00;FS=6.183;HRun=0;HaplotypeScore=6.3983;MQ=59.48;MQ0=0;MQRankSum=0.475;QD=12.75;ReadPosRankSum=-0.256;VQSLOD=4.8745;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,42:81:99:1063,0,873 11 86267633 86267633 C T exonic ME3 synonymous SNV ME3:NM_001014811:exon3:c.G429A:p.L143L,ME3:NM_001161586:exon4:c.G429A:p.L143L,ME3:NM_006680:exon4:c.G429A:p.L143L 0.28 0.19 0.35 0.53 0.18 0.17 0.2231 0.1896 0.3762 0.5338 0.2549 0.1742 0.2002 0.1609 0.17 0.19 0.17 0.28 0.13 rs17211115 COSM5619306 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2284 0.1877 0.3640 0.1128 0.5437 0.2560 0.1701 0.1968 0.1584 0.2169 0.1929 0.3413 0.1391 0.5490 0.2467 0.1837 0.2016 het 1525.17 103 11 86267633 . C T 1525.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.848;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8308;MQ=58.12;MQ0=0;MQRankSum=2.055;QD=14.81;ReadPosRankSum=1.534;VQSLOD=4.6050;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1555,0,1563 11 86267714 86267714 C A exonic ME3 synonymous SNV ME3:NM_001014811:exon3:c.G348T:p.R116R,ME3:NM_001161586:exon4:c.G348T:p.R116R,ME3:NM_006680:exon4:c.G348T:p.R116R 0.28 0.19 0.35 0.53 0.18 0.17 0.2237 0.1901 0.3762 0.5377 0.2553 0.1743 0.2002 0.1619 0.17 0.19 0.17 0.28 0.14 rs12287767 COSM3998615 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2288 0.1881 0.3640 0.1128 0.5458 0.2564 0.1702 0.1976 0.1594 0.2171 0.1928 0.3413 0.1391 0.5530 0.2468 0.1840 0.2016 het 2621.02 196 11 86267714 . C A 2621.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.172;DP=196;Dels=0.00;FS=1.768;HRun=0;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;MQRankSum=-0.431;QD=13.37;ReadPosRankSum=1.707;VQSLOD=6.2072;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,105:196:99:2651,0,2454 11 86663296 86663296 G A exonic FZD4 nonsynonymous SNV FZD4:NM_012193:exon2:c.C502T:p.P168S 0.015 0.0076 0.025 . 0.011 0.037 0.0166 0.0088 0.0487 0.0002 0.0023 0.0150 0.0143 0.0200 0.015 0.0086 0.018 0.022 0.025 rs61735303 . . Likely benign|Benign Familial_exudative_vitreoretinopathy|not_specified RCV000368489.1|RCV000455735.1 MedGen:Orphanet|MedGen C0339539:ORPHA891|CN169374 . . . . . . 0.086 0.326 T 0.146 0.262 B 0.024 0.190 B 0.000 0.523 D 1 0.810 A 0.55 0.145 N -1.46 0.810 T -1.01 0.266 N 0.309 0.370 -0.771 0.568 T 0.156 0.489 T . . . 2.088 0.312 16.78 0.991 0.526 0.941 0.600 D c 0.026 0.267 1.000 0.747 0.731 0.878 0 5.82 0.927 6.518 0.735 1.048 0.713 1.000 0.715 0.991 0.552 20.100 0.979 . . . 0.0184 0.0082 0.0476 0.0141 0.0002 0.0022 0.0170 0.0135 0.0211 0.0130 0.0121 0.0322 0.0199 0 0.0026 0.0164 0.0081 het 2827.27 208 11 86663296 . G A 2827.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.781;DP=208;Dels=0.00;FS=7.907;HRun=0;HaplotypeScore=4.7404;MQ=59.00;MQ0=0;MQRankSum=-0.612;QD=13.59;ReadPosRankSum=-1.193;VQSLOD=3.7443;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,108:208:99:2857,0,2779 11 86666031 86666031 G A exonic FZD4 nonsynonymous SNV FZD4:NM_012193:exon1:c.C97T:p.P33S 0.013 0.0015 0.025 0.001 0.011 0.033 0.0153 0.0029 0.0486 0.0004 0.0024 0.0146 0.0113 0.0138 0.012 0.0025 0.016 0.011 0.016 rs61735304 . . other|Likely benign not_specified|Familial_exudative_vitreoretinopathy RCV000173423.1|RCV000387944.1 MedGen|MedGen:Orphanet CN169374|C0339539:ORPHA891 . . . . . . 0.412 0.101 T 0.0 0.026 B 0.0 0.013 B 0.207 0.164 N 0.000 0.090 A 0 0.065 N -1.29 0.795 T -0.69 0.197 N 0.067 0.054 -0.977 0.356 T 0.137 0.454 T . . . 1.635 0.258 14.04 0.945 0.244 0.265 0.228 N c -0.373 -0.211 1.000 0.747 0.437 0.062 0 3.34 0.372 2.090 0.411 0.868 0.378 0.248 0.246 0.753 0.322 7.955 0.290 . . . 0.0169 0.0031 0.0469 0.0140 0.0002 0.0023 0.0165 0.0127 0.0137 0.0112 0.0062 0.0311 0.0199 0 0.0026 0.0162 0.0082 het 368.51 31 11 86666031 . G A 368.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.306;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=1.705;QD=11.89;ReadPosRankSum=1.528;VQSLOD=5.3039;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,18:31:99:398,0,295 11 87013438 87013438 G A exonic TMEM135 nonsynonymous SNV TMEM135:NM_001168724:exon7:c.G586A:p.G196R,TMEM135:NM_022918:exon8:c.G652A:p.G218R 0.58 0.59 0.51 0.44 0.65 0.7 0.6239 0.6132 0.4575 0.4753 0.5311 0.6676 0.6674 0.6830 0.66 0.6 0.69 0.62 0.62 rs2276102 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 1.000 0.206 P -1.245 0.008 N 1.06 0.398 T 1.27 0.016 N 0.14 0.163 -0.965 0.383 T 0.000 0.000 T . . . 1.065 0.196 11.02 0.074 0.000 0.362 0.253 N c -0.674 -0.543 0.428 0.203 0.706 0.609 0 4.31 0.505 2.497 0.448 0.244 0.267 0.982 0.353 0.026 0.142 5.749 0.173 . . . 0.6188 0.6088 0.4679 0.7490 0.4699 0.5245 0.6752 0.6481 0.6892 0.6149 0.6147 0.5120 0.7517 0.4771 0.5213 0.6539 0.6255 hom 3919.24 127 11 87013438 . G A 3919.24 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.80;MQ0=0;QD=30.86;VQSLOD=9.1333;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3919,295,0 11 87908448 87908448 A G exonic RAB38 synonymous SNV RAB38:NM_022337:exon1:c.T105C:p.S35S 0.75 0.8 0.78 0.6 0.87 0.67 0.8023 0.7929 0.7807 0.5599 0.7613 0.8593 0.8278 0.7347 0.84 0.8 0.86 0.74 0.8 rs302646 COSM3752797 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8041 0.7936 0.7898 0.9298 0.5691 0.7657 0.8579 0.8440 0.7419 0.8094 0.7960 0.8014 0.9205 0.5675 0.7619 0.8514 0.8259 hom 4819.77 158 11 87908448 . A G 4819.77 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5561;MQ=59.71;MQ0=0;QD=30.50;VQSLOD=8.6570;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4819,370,0 11 87908502 87908502 G A exonic RAB38 synonymous SNV RAB38:NM_022337:exon1:c.C51T:p.D17D 0.0058 0.0008 0.011 . 0.014 0.0061 0.0100 0.0034 0.0099 0.0002 0.0038 0.0141 0.0177 0.0051 0.0097 0.0023 0.013 0.011 0.016 rs36074402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0097 0.0027 0.0092 0.0052 0.0001 0.0044 0.0151 0.0133 0.0046 0.0093 0.0018 0.0095 0.0033 0 0.0037 0.0159 0.0132 het 1935.19 180 11 87908502 . G A 1935.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.403;DP=180;Dels=0.00;FS=2.676;HRun=0;HaplotypeScore=5.3167;MQ=59.87;MQ0=0;MQRankSum=0.535;QD=10.75;ReadPosRankSum=-0.951;VQSLOD=4.4585;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:103,77:180:99:1965,0,2637 11 88045583 88045583 A G exonic CTSC nonsynonymous SNV CTSC:NM_001814:exon3:c.T458C:p.I153T 0.93 0.93 0.93 1. 0.85 0.96 0.8861 0.9139 0.9230 0.9995 0.8931 0.8460 0.8767 0.9427 0.86 0.91 0.84 0.94 0.83 rs217086 COSM3752799 1(large_intestine) Benign not_specified RCV000454700.1 MedGen CN169374 . . . . . . 0.734 0.038 T 0.0 0.026 B 0.0 0.013 B 0.020 0.015 N 1 0.090 P -2.3 0.001 N -0.42 0.695 T 2.12 0.004 N 0.333 0.394 -0.941 0.426 T 0.000 0.000 T . . . -1.512 0.017 0.003 0.381 0.025 0.005 0.024 N c -1.590 -1.688 1.000 0.747 0.722 0.854 0 -9.46 0.005 -0.731 0.050 -0.223 0.096 0.000 0.063 0.000 0.016 12.511 0.552 . ENSG00000109861.11 Testis 0.8838 0.9130 0.9175 0.7534 0.9997 0.8909 0.8473 0.8556 0.9419 0.8735 0.9088 0.8935 0.77 0.9994 0.8955 0.8360 0.8609 het 4495.90 250 11 88045583 . A G 4495.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.316;DP=250;DS;Dels=0.00;FS=0.552;HRun=0;HaplotypeScore=7.7160;MQ=59.35;MQ0=0;MQRankSum=1.400;QD=17.98;ReadPosRankSum=0.888;VQSLOD=3.7061;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,133:250:99:3839,0,3074 11 88911696 88911696 C A exonic TYR nonsynonymous SNV TYR:NM_000372:exon1:c.C575A:p.S192Y 0.12 0.012 0.24 0.001 0.37 0.063 0.2518 0.0620 0.1918 0.0008 0.1818 0.3663 0.2907 0.1085 0.27 0.076 0.38 0.098 0.29 rs1042602 COSM430000 11(soft_tissue) other|Benign|not provided|Benign|Likely benign Skin/hair/eye_pigmentation\x2c_variation_in\x2c_3|Tyrosinase-negative_oculocutaneous_albinism|not_provided|not_specified|Oculocutaneous_albinism RCV000003977.4|RCV000055807.1|RCV000085955.1|RCV000173114.2|RCV000341159.1 MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT C2677190:601800|C0268494:203100:ORPHA79431:6483008|CN221809|CN169374|C0078918:ORPHA55:63844009 Skin pigmentation 0.23 . 17999355 rs1042602 4E-10 0.031 0.450 D 0.997 0.689 D 0.974 0.715 D 0.000 0.629 D 1.000 0.211 P 1.845 0.488 L -5.1 0.987 D -2.79 0.590 D 0.455 0.507 -1.784 0.000 T 0.000 0.000 T . . . 4.938 0.664 25.0 0.993 0.595 0.862 0.452 D c 0.495 0.418 0.994 0.333 0.487 0.133 0 6.07 0.987 4.505 0.599 0.935 0.490 0.420 0.261 0.925 0.399 15.385 0.743 Tyrosinase copper-binding domain|Uncharacterised domain\x2c di-copper centre . . 0.2545 0.0585 0.2056 0.4503 0.0008 0.1819 0.3691 0.3105 0.1117 0.2157 0.0673 0.2254 0.4603 0.0012 0.1832 0.3261 0.2347 het 2340.74 220 11 88911696 . C A 2340.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.099;DP=220;DS;Dels=0.00;FS=11.594;HRun=0;HaplotypeScore=2.8598;MQ=59.04;MQ0=0;MQRankSum=0.845;QD=10.64;ReadPosRankSum=0.507;VQSLOD=4.2091;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,92:220:99:2371,0,3624 11 89060002 89060002 G A exonic NOX4 synonymous SNV NOX4:NM_001143836:exon17:c.C1539T:p.S513S,NOX4:NM_001291929:exon17:c.C1584T:p.S528S,NOX4:NM_001300995:exon17:c.C1467T:p.S489S,NOX4:NM_001291926:exon18:c.C1437T:p.S479S,NOX4:NM_001291927:exon18:c.C1722T:p.S574S,NOX4:NM_016931:exon18:c.C1659T:p.S553S,NOX4:NM_001143837:exon21:c.C1587T:p.S529S 0.13 0.24 0.042 0.14 0.051 0.12 0.0741 0.1936 0.0306 0.1293 0.0590 0.0474 0.0774 0.1140 0.087 0.18 0.04 0.13 0.033 rs28517716 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0687 0.1898 0.0291 0.0656 0.1276 0.0580 0.0460 0.0600 0.1112 0.0929 0.1921 0.0406 0.0430 0.1388 0.0547 0.0452 0.0624 het 692.05 51 11 89060002 . G A 692.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.934;DP=51;Dels=0.00;FS=1.072;HRun=0;HaplotypeScore=0.9995;MQ=56.28;MQ0=0;MQRankSum=-1.727;QD=13.57;ReadPosRankSum=-0.028;VQSLOD=2.2122;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,27:51:99:722,0,628 11 89133449 89133449 C T exonic NOX4 nonsynonymous SNV NOX4:NM_001291929:exon9:c.G870A:p.M290I,NOX4:NM_001143836:exon10:c.G945A:p.M315I,NOX4:NM_001291926:exon10:c.G723A:p.M241I,NOX4:NM_001291927:exon10:c.G1008A:p.M336I,NOX4:NM_001300995:exon10:c.G873A:p.M291I,NOX4:NM_016931:exon10:c.G945A:p.M315I,NOX4:NM_001143837:exon13:c.G873A:p.M291I 1. 1. 0.99 1. 0.99 1. 0.9925 0.9982 0.9900 1 0.9874 0.9909 0.9890 0.9956 0.99 1. 0.99 0.99 0.98 rs317139 . . . . . . . . . . . . . 1.0 0.053 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.588 P -2.65 0.000 N -2.93 0.918 D 2.3 0.003 N 0.132 0.195 -0.958 0.396 T 0.000 0.000 T . . . 0.217 0.115 4.859 0.737 0.101 0.334 0.246 N c -1.245 -1.082 0.000 0.035 0.706 0.609 0 -2.82 0.054 -0.011 0.126 -0.288 0.083 0.968 0.339 0.991 0.552 4.358 0.105 FAD-binding 8|Ferredoxin reductase-type FAD-binding domain|Riboflavin synthase-like beta-barrel . . 0.9927 0.9983 0.9940 0.9932 1 0.9865 0.9910 0.9873 0.9955 0.9929 0.9982 0.9940 0.9967 1 0.9871 0.9904 0.9908 hom 3774.97 134 11 89133449 . C T 3774.97 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7820;MQ=51.08;MQ0=5;QD=28.17;VQSLOD=3.7870;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:3774,304,0 11 89868755 89868755 G A exonic NAALAD2 synonymous SNV NAALAD2:NM_001300930:exon2:c.G111A:p.T37T,NAALAD2:NM_005467:exon2:c.G111A:p.T37T 0.51 0.68 0.54 0.42 0.36 0.51 0.4267 0.6138 0.6209 0.4260 0.3925 0.3499 0.4205 0.4974 0.44 0.6 0.35 0.56 0.39 rs10734123 COSM147303 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4297 0.6181 0.6030 0.3889 0.4252 0.3949 0.3473 0.4001 0.4927 0.4435 0.6063 0.5526 0.3808 0.4201 0.3972 0.3588 0.4208 het 926.30 89 11 89868755 . G A 926.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.939;DP=89;Dels=0.00;FS=2.879;HRun=1;HaplotypeScore=2.7829;MQ=59.11;MQ0=0;MQRankSum=0.448;QD=10.41;ReadPosRankSum=1.148;VQSLOD=6.2508;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,39:89:99:956,0,1028 11 89880604 89880604 G A exonic NAALAD2 nonsynonymous SNV NAALAD2:NM_001300930:exon3:c.G301A:p.V101I,NAALAD2:NM_005467:exon3:c.G301A:p.V101I 0.037 0.0023 0.033 0.069 0.044 0.048 0.0393 0.0065 0.0666 0.0513 0.0593 0.0366 0.0496 0.0370 0.029 0.0091 0.038 0.022 0.025 rs11018879 . . . . . . . . . . . . . 0.348 0.232 T 0.002 0.191 B 0.007 0.121 B 0.003 0.356 N 1.000 0.588 D 1.895 0.505 L 1.24 0.475 T -0.58 0.187 N 0.024 0.035 -1.056 0.128 T 0.022 0.091 T . . . 2.295 0.337 18.13 0.992 0.537 0.977 0.766 D c 0.042 0.161 0.687 0.225 0.638 0.428 0 4.12 0.473 6.006 0.702 0.948 0.535 1.000 0.715 0.980 0.490 14.076 0.643 . . . 0.0413 0.0073 0.0607 0.0239 0.0513 0.0621 0.0374 0.0433 0.0354 0.0330 0.0071 0.0513 0.0298 0.0408 0.0607 0.0383 0.0562 het 1353 97 11 89880604 . G A 1353 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.699;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=60.00;MQ0=0;MQRankSum=1.033;QD=13.95;ReadPosRankSum=1.351;VQSLOD=6.2212;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,53:97:99:1383,0,1199 11 89935586 89935586 G T exonic CHORDC1 nonsynonymous SNV CHORDC1:NM_001144073:exon10:c.C929A:p.A310D,CHORDC1:NM_012124:exon11:c.C986A:p.A329D 0.61 0.37 0.65 0.68 0.7 0.75 0.6885 0.4096 0.7520 0.7152 0.7203 0.6958 0.7070 0.7625 0.6 0.41 0.7 0.66 0.72 rs1045861 . . . . . . . . . . . . . 0.863 0.082 T 0.007 0.131 B 0.002 0.063 B 0.806 0.068 N 1.000 0.212 P -1.155 0.009 N 0.96 0.433 T 2.12 0.004 N 0.024 0.007 -0.930 0.442 T 0.000 0.000 T . . . 0.929 0.183 10.25 0.178 0.005 0.006 0.028 N c -1.005 -0.871 0.749 0.233 0.707 0.730 0 4.08 0.467 0.961 0.287 -0.508 0.051 0.001 0.137 0.001 0.043 11.064 0.470 CS domain|HSP20-like chaperone . . 0.6992 0.4094 0.7574 0.6853 0.7148 0.7225 0.6991 0.6835 0.7614 0.6200 0.4232 0.7356 0.6954 0.7021 0.7272 0.6871 0.7031 hom 2622.32 92 11 89935586 . G T 2622.32 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56.57;MQ0=0;QD=28.50;VQSLOD=6.0980;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2655,211,0 11 92086513 92086513 C T exonic FAT3 nonsynonymous SNV FAT3:NM_001008781:exon1:c.C1235T:p.S412F 0.055 0.15 0.039 0.001 0.044 0.0041 0.0467 0.1521 0.0252 0 0.0279 0.0523 0.0459 0.0082 0.081 0.14 0.056 0.076 . rs10830902 . . . . . . . . . . . . . 0.035 0.437 D 0.651 0.388 P 0.277 0.385 B . . . 1.000 0.196 P 1.76 0.459 L 0.12 0.611 T -1.83 0.429 N 0.211 0.264 -1.039 0.177 T 0.002 0.005 T . . . 3.228 0.447 22.8 0.997 0.823 0.566 0.299 D c -0.105 -0.100 0.873 0.254 0.615 0.372 0 4.7 0.586 1.158 0.311 0.024 0.147 0.046 0.210 0.972 0.466 8.609 0.328 Cadherin|Cadherin-like . . 0.0461 0.1537 0.0304 0.0867 0 0.0268 0.0539 0.0483 0.0083 0.0734 0.1515 0.0465 0.1 0 0.0263 0.0494 0.0479 het 451.06 41 11 92086513 . C T 451.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.701;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=58.36;MQ0=0;MQRankSum=0.622;QD=11.00;ReadPosRankSum=-1.045;VQSLOD=6.2530;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:481,0,610 11 92086649 92086649 G A exonic FAT3 synonymous SNV FAT3:NM_001008781:exon1:c.G1371A:p.Q457Q 0.05 0.13 0.036 0.001 0.044 0.0041 0.0459 0.1405 0.0249 0 0.0281 0.0528 0.0462 0.0081 0.077 0.12 0.056 0.065 . rs10830903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0454 0.1426 0.0299 0.0870 0 0.0268 0.0541 0.0478 0.0083 0.0701 0.1405 0.0443 0.1026 0 0.0263 0.0494 0.0459 het 328.55 38 11 92086649 . G A 328.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.031;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5849;MQ=58.78;MQ0=0;MQRankSum=-1.446;QD=8.65;ReadPosRankSum=0.492;VQSLOD=5.2504;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,13:38:99:359,0,711 11 92088177 92088177 C T exonic FAT3 synonymous SNV FAT3:NM_001008781:exon1:c.C2899T:p.L967L 0.35 0.81 0.18 0.17 0.2 0.19 0.2449 0.7066 0.1540 0.1656 0.1696 0.2223 0.2339 0.1971 0.36 0.67 0.22 0.4 . rs7479732 COSM1357726;COSM3752806;COSM1357727 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2368 0.7178 0.1673 0.3143 0.1682 0.1698 0.2200 0.2223 0.1992 0.3433 0.7015 0.2022 0.3411 0.1590 0.1631 0.2106 0.2536 hom 2107.09 64 11 92088177 . C T 2107.09 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.92;VQSLOD=13.4054;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2140,172,0 11 92531356 92531356 A G exonic FAT3 nonsynonymous SNV FAT3:NM_001008781:exon9:c.A5177G:p.Q1726R 0.77 0.65 0.85 0.76 0.86 0.8 0.8230 0.6807 0.8558 0.7470 0.8630 0.8451 0.8285 0.8184 0.8 0.69 0.85 0.77 . rs7949157 . . . . . . . . . . . . . 0.348 0.124 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0.215 0.096 N 0.75 0.502 T -1.2 0.305 N 0.023 0.032 -1.004 0.287 T 0.000 0.000 T . . . -0.294 0.069 0.685 0.932 0.223 0.164 0.192 N c -0.932 -0.843 0.003 0.097 0.615 0.372 0 0.257 0.148 2.294 0.430 0.104 0.200 0.747 0.289 0.132 0.200 10.071 0.413 Cadherin|Cadherin-like . . 0.8269 0.6795 0.8496 0.8126 0.7408 0.8722 0.8467 0.8441 0.8214 0.8011 0.6949 0.8589 0.8212 0.7438 0.8701 0.8467 0.8371 hom 3740.48 118 11 92531356 . A G 3740.48 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.0228;MQ=59.29;MQ0=0;QD=31.70;VQSLOD=7.4802;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3740,304,0 11 92532677 92532677 T C exonic FAT3 synonymous SNV FAT3:NM_001008781:exon9:c.T6498C:p.P2166P 0.8 0.77 0.86 0.76 0.85 0.79 0.8272 0.7867 0.8583 0.7477 0.8266 0.8411 0.8288 0.8143 0.83 0.8 0.84 0.83 . rs12362722 COSM3721777;COSM3721776 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8281 0.7847 0.8528 0.8065 0.7407 0.8389 0.8423 0.8415 0.8168 0.8210 0.7962 0.8652 0.8179 0.7469 0.8353 0.8374 0.8238 hom 1782.83 55 11 92532677 . T C 1782.83 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9578;MQ=59.58;MQ0=0;QD=32.42;VQSLOD=9.7333;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1816,138,0 11 92534442 92534442 A G exonic FAT3 nonsynonymous SNV FAT3:NM_001008781:exon9:c.A8263G:p.I2755V 0.86 0.73 0.87 0.95 0.87 0.9 0.8637 0.7479 0.8657 0.9416 0.9083 0.8569 0.8761 0.8994 0.82 0.75 0.85 0.88 . rs3847531 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.206 P -0.49 0.026 N 0.18 0.604 T 0.38 0.036 N 0.018 0.012 -0.957 0.398 T 0.000 0.000 T . . . -0.756 0.042 0.054 0.220 0.009 0.315 0.241 N c -0.768 -0.557 0.122 0.169 0.615 0.372 0 4.8 0.610 2.085 0.410 -0.285 0.084 0.991 0.370 0.559 0.281 9.176 0.361 Cadherin|Cadherin-like . . 0.8670 0.7472 0.8583 0.8802 0.9415 0.9158 0.8543 0.8721 0.8997 0.8408 0.7577 0.8699 0.8907 0.9543 0.9124 0.8554 0.8735 hom 1470.44 49 11 92534442 . A G 1470.44 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.01;VQSLOD=13.9682;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1503,129,0 11 92590448 92590448 A G exonic FAT3 nonsynonymous SNV FAT3:NM_001008781:exon19:c.A11434G:p.S3812G 0.83 0.92 0.8 0.67 0.81 0.91 0.8175 0.9106 0.8058 0.6797 0.7936 0.8058 0.8330 0.8983 0.84 0.91 0.81 0.89 . rs4753069 . . . . . . . . . . . . . 0.872 0.027 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.186 P -1.04 0.011 N 1.64 0.278 T -0.21 0.152 N 0.046 0.026 -1.008 0.276 T 0.000 0.000 T . . . 1.015 0.191 10.75 0.359 0.023 0.285 0.234 N c -1.022 -0.779 0.680 0.225 0.706 0.609 0 4.1 0.470 2.366 0.436 -0.729 0.036 0.996 0.391 0.893 0.376 11.560 0.498 Concanavalin A-like lectin/glucanase domain|EGF-like domain . . 0.8143 0.9117 0.8031 0.8750 0.6716 0.7916 0.8015 0.8296 0.8987 0.8266 0.9099 0.8278 0.8676 0.6755 0.7872 0.8031 0.8200 hom 3969.17 132 11 92590448 . A G 3969.17 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5291;MQ=59.45;MQ0=0;QD=30.07;VQSLOD=8.5347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:3968,328,0 11 92623877 92623877 G A exonic FAT3 synonymous SNV FAT3:NM_001008781:exon25:c.G13272A:p.P4424P 0.23 0.21 0.3 0.24 0.25 0.16 0.2439 0.2272 0.2872 0.2639 0.2609 0.2527 0.2299 0.1720 0.24 0.22 0.25 0.17 . rs12277422 COSM4418411;COSM4418410;COSM4418409 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2492 0.2261 0.2960 0.2639 0.2551 0.2607 0.2543 0.2535 0.1741 0.2541 0.2369 0.2864 0.2649 0.2491 0.2595 0.2599 0.2767 hom 1080.11 32 11 92623877 . G A 1080.11 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=33.75;VQSLOD=9.3457;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:90.27:1113,90,0 11 92895920 92895920 T C exonic SLC36A4 nonsynonymous SNV SLC36A4:NM_001286139:exon9:c.A584G:p.H195R,SLC36A4:NM_152313:exon9:c.A989G:p.H330R 0.044 0.021 0.036 0.001 0.057 0.11 0.0551 0.0329 0.0270 0.0005 0.0355 0.0595 0.0684 0.1063 0.055 0.035 0.065 0.033 0.057 rs78676517 COSM3752813 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.173 0.258 T 0.0 0.026 B 0.002 0.063 B 0.771 0.095 N 1 0.090 N 0 0.065 N 4.41 0.022 T 0.45 0.032 N 0.035 0.100 -0.933 0.437 T 0.001 0.003 T . . . 0.305 0.123 5.738 0.797 0.124 0.006 0.028 N c -1.265 -1.220 0.008 0.117 0.732 0.924 0 -3.26 0.047 0.137 0.157 -1.072 0.019 0.005 0.169 0.988 0.529 14.350 0.661 Amino acid transporter\x2c transmembrane domain . . 0.0540 0.0324 0.0277 0.0815 0.0003 0.0380 0.0595 0.0536 0.1065 0.0427 0.0374 0.0310 0.0993 0.0043 0.0346 0.0516 0.0397 het 1168.41 111 11 92895920 . T C 1168.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.814;DP=111;Dels=0.00;FS=2.448;HRun=0;HaplotypeScore=4.5041;MQ=58.73;MQ0=0;MQRankSum=0.719;QD=10.53;ReadPosRankSum=-1.524;VQSLOD=4.9485;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,51:111:99:1198,0,1437 11 93212245 93212245 C T exonic SMCO4 synonymous SNV SMCO4:NM_020179:exon3:c.G111A:p.T37T 0.078 0.011 0.076 0.04 0.16 0.12 0.1323 0.0345 0.0706 0.0413 0.1692 0.1647 0.1615 0.1379 0.12 0.036 0.16 0.076 0.049 rs3207348 COSM5051211 1(breast);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1312 0.0326 0.0739 0.1446 0.0414 0.1704 0.1651 0.1342 0.1372 0.1220 0.0371 0.0907 0.1358 0.0469 0.1705 0.1676 0.1558 het 981.34 88 11 93212245 . C T 981.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.776;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;MQRankSum=-0.274;QD=11.15;ReadPosRankSum=-0.594;VQSLOD=6.0593;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,38:88:99:1011,0,1483 11 93797619 93797619 A G exonic HEPHL1 nonsynonymous SNV HEPHL1:NM_001098672:exon4:c.A751G:p.N251D 0.91 0.67 0.98 1. 1. 1. 0.9776 0.7396 0.9920 0.9997 1 0.9994 0.9900 0.9998 0.92 0.75 1. 0.89 . rs1945783 . . . . . . . . . . . . . 0.935 0.022 T 0.0 0.026 B 0.001 0.040 B 0.013 0.291 N 1 0.090 P -0.665 0.020 N -5.0 0.985 D 2.24 0.003 N 0.005 0.000 -0.920 0.456 T 0.000 0.000 T . . . -1.234 0.024 0.006 0.176 0.005 0.004 0.021 N c -1.412 -1.325 0.001 0.084 0.487 0.133 0 2.07 0.259 0.848 0.272 -1.148 0.017 0.303 0.251 0.005 0.090 9.427 0.376 Cupredoxin ENSG00000166004.10 Nerve_Tibial 0.9814 0.7374 0.9890 0.9979 0.9997 1 0.9993 0.9884 0.9995 0.9294 0.7538 0.9821 1 1 1 0.9991 0.9868 hom 1703.29 59 11 93797619 . A G 1703.29 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;QD=28.87;VQSLOD=8.6309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1736,138,0 11 94231257 94231257 C G exonic ANKRD49 synonymous SNV ANKRD49:NM_017704:exon3:c.C279G:p.L93L 0.55 0.66 0.52 0.52 0.55 0.44 0.5411 0.6313 0.4607 0.5156 0.5407 0.5691 0.5210 0.4409 0.59 0.63 0.57 0.54 0.57 rs2509943 . . Benign not_specified RCV000454644.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5322 0.6279 0.4587 0.5603 0.5195 0.5404 0.5663 0.5387 0.4327 0.5859 0.6372 0.4820 0.5199 0.5385 0.5429 0.5800 0.5594 hom 2922.04 95 11 94231257 . C G 2922.04 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.64;MQ0=0;QD=30.76;VQSLOD=8.9732;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2955,223,0 11 94800902 94800902 - C exonic SRSF8 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 0.065 . rs5793709 COSN20108625;COSN20108622;COSN20108624;COSN20108623 4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1 1 1 1.0000 0.9999 1 1 1 1 1 1 hom 4059.60 96 11 94800902 . G GC 4059.60 Mask AC=2;AF=1.00;AN=2;DP=96;FS=0.000;HRun=1;HaplotypeScore=212.5685;MQ=60.34;MQ0=0;QD=42.29;set=variant2 GT:AD:DP:GQ:PL 1/1:5,91:96:99:4060,274,0 11 94862577 94862577 G T exonic ENDOD1 nonsynonymous SNV ENDOD1:NM_015036:exon2:c.G1337T:p.G446V 0.2 0.087 0.2 0.12 0.27 0.37 0.2557 0.1115 0.1649 0.1258 0.2780 0.2843 0.2467 0.3485 0.23 0.12 0.28 0.17 0.42 rs3740861 COSM3752822 1(large_intestine) . . . . . . . . . . . 0.084 0.329 T 0.995 0.657 D 0.834 0.580 P 0.068 0.217 N 0.889 0.279 P 2.36 0.681 M 1.24 0.367 T -1.07 0.279 N 0.27 0.328 -1.197 0.002 T 0.000 0.000 T . . . 3.142 0.437 22.6 0.987 0.442 0.941 0.600 D c 0.441 0.357 1.000 0.747 0.707 0.730 0 5.97 0.969 6.211 0.719 1.048 0.713 0.989 0.365 0.003 0.074 20.430 0.991 . ENSG00000149218.4|ENSG00000270689.1|ENSG00000149218.4|ENSG00000270689.1|ENSG00000149218.4 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Thyroid 0.2536 0.1110 0.1709 0.2538 0.1238 0.2840 0.2881 0.2438 0.3422 0.2190 0.1121 0.1758 0.2450 0.1270 0.2899 0.2756 0.2332 het 3110.97 229 11 94862577 . G T 3110.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.208;DP=229;Dels=0.00;FS=2.237;HRun=0;HaplotypeScore=6.5951;MQ=59.20;MQ0=0;MQRankSum=1.540;QD=13.59;ReadPosRankSum=-0.741;VQSLOD=4.7265;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,118:229:99:3141,0,2815 11 95512060 95512060 A G exonic FAM76B synonymous SNV FAM76B:NM_001330357:exon8:c.T751C:p.L251L,FAM76B:NM_144664:exon8:c.T754C:p.L252L 0.58 0.93 0.49 0.34 0.51 0.47 0.5212 0.8556 0.4804 0.3674 0.4654 0.5189 0.5201 0.4627 0.62 0.84 0.51 0.65 0.51 rs1150360 COSM3752823 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5129 0.8631 0.4757 0.6902 0.3642 0.4689 0.5035 0.5475 0.4661 0.5867 0.8519 0.4880 0.6921 0.3508 0.4667 0.4939 0.5021 het 413.95 21 11 95512060 . A G 413.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.285;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.45;MQ0=0;MQRankSum=-0.272;QD=19.71;ReadPosRankSum=0.195;VQSLOD=6.5225;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,15:21:99:444,0,166 11 95713077 95713077 C T exonic MAML2 nonsynonymous SNV MAML2:NM_032427:exon5:c.G2506A:p.V836I 0.0062 . 0.0014 0.001 0.023 0.0061 0.0192 0.0039 0.0065 0.0001 0.0370 0.0278 0.0247 0.0047 0.019 0.0061 0.025 . . rs34520053 . . . . . . . . . . . . . 0.763 0.034 T 0.176 0.272 B 0.07 0.264 B 0.000 0.629 D 0.812 0.346 D 1.04 0.263 L 0.93 0.441 T -0.31 0.121 N 0.016 0.013 -1.025 0.221 T 0.031 0.133 T . . . 1.422 0.234 12.90 0.846 0.149 0.859 0.448 D c -0.210 -0.052 0.986 0.309 0.615 0.372 0 5.33 0.756 3.772 0.548 0.935 0.490 1.000 0.715 0.976 0.476 10.589 0.443 . . . 0.0194 0.0044 0.0090 0.0099 5.801e-05 0.0398 0.0282 0.0199 0.0051 0.0198 0.0057 0.0107 0 0 0.0295 0.0287 0.0214 het 734.27 49 11 95713077 . C T 734.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.445;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=-0.010;QD=14.99;ReadPosRankSum=0.556;VQSLOD=6.5299;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,28:49:99:764,0,612 11 95825797 95825797 A G exonic MAML2 synonymous SNV MAML2:NM_032427:exon2:c.T1398C:p.S466S 0.51 0.72 0.46 0.2 0.57 0.48 0.5190 0.7007 0.3947 0.1942 0.4425 0.5722 0.5578 0.4810 0.62 0.71 0.58 0.28 . rs7931870 COSM3773616 1(kidney);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5103 0.7035 0.3963 0.7464 0.1926 0.4469 0.5661 0.5585 0.4775 0.5653 0.7121 0.4642 0.7616 0.1768 0.4324 0.5584 0.5061 het 1185.16 104 11 95825797 . A G 1185.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.131;DP=104;Dels=0.00;FS=0.739;HRun=1;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;MQRankSum=2.657;QD=11.40;ReadPosRankSum=0.426;VQSLOD=5.1060;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,45:104:99:1215,0,1659 11 96116444 96116444 T C exonic CCDC82 nonsynonymous SNV CCDC82:NM_001318737:exon5:c.A980G:p.Q327R,CCDC82:NM_024725:exon5:c.A980G:p.Q327R,CCDC82:NM_001318736:exon6:c.A980G:p.Q327R 0.23 0.2 0.23 0.31 0.22 0.17 0.2166 0.2378 0.1851 0.3178 0.2193 0.2136 0.2124 0.1819 0.21 0.22 0.2 0.2 0.14 rs10831519 COSM3752830 2(large_intestine) . . . . . . . . . . . 0.274 0.158 T 0.099 0.241 B 0.039 0.223 B 0.660 0.104 N 0.982 0.250 P 0.69 0.170 N 0.95 0.433 T -1.28 0.322 N 0.087 0.083 -0.956 0.400 T 0.000 0.000 T . . . 3.372 0.464 22.9 0.912 0.199 0.633 0.318 D c -0.365 -0.191 0.968 0.289 0.707 0.730 0 2.99 0.335 0.551 0.229 1.001 0.622 0.998 0.411 1.000 0.888 8.462 0.319 Domain of unknown function DUF4211 ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7|ENSG00000149231.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Vagina 0.2058 0.2247 0.1877 0.2090 0.3089 0.2132 0.1992 0.2063 0.1752 0.2096 0.2201 0.2110 0.2119 0.3304 0.2107 0.1907 0.2002 het 452.25 35 11 96116444 . T C 452.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.214;DP=35;Dels=0.00;FS=1.320;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=-1.526;QD=12.92;ReadPosRankSum=-0.035;VQSLOD=5.9999;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,19:35:99:482,0,341 11 99690286 99690286 T G exonic CNTN5 nonsynonymous SNV CNTN5:NM_001243270:exon3:c.T67G:p.S23A,CNTN5:NM_001243271:exon4:c.T67G:p.S23A,CNTN5:NM_014361:exon4:c.T67G:p.S23A . . . . . . 0.4965 0.5070 0.4582 0.4244 0.5070 0.5096 0.5057 0.4982 . . . 0.21 . rs10790978 COSM1476010;COSM430127 2(haematopoietic_and_lymphoid_tissue);23(upper_aerodigestive_tract);1(large_intestine);6(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.384 N 1.000 0.588 P -2.135 0.001 N 0.65 0.527 T -0.12 0.088 N 0.327 0.388 -1.005 0.284 T 0.044 0.190 T . . . -0.042 0.090 2.203 0.214 0.008 0.016 0.051 N c -0.830 -0.617 0.001 0.078 0.487 0.133 0 4.28 0.500 4.172 0.578 0.136 0.221 1.000 0.715 0.008 0.104 10.378 0.431 . . . 0.4947 0.5066 0.4544 0.5176 0.4244 0.5126 0.5091 0.5024 0.4974 0.5040 0.5051 0.4684 0.5067 0.4374 0.5113 0.5106 0.5041 het 1171.91 102 11 99690286 . T G 1171.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.309;DP=102;Dels=0.00;FS=3.264;HRun=0;HaplotypeScore=8.5785;MQ=58.20;MQ0=0;MQRankSum=-1.362;QD=11.49;ReadPosRankSum=0.091;VQSLOD=2.9178;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:56,46:102:99:1202,0,1407 11 99690376 99690376 C T exonic CNTN5 stopgain CNTN5:NM_001243270:exon3:c.C157T:p.R53X,CNTN5:NM_001243271:exon4:c.C157T:p.R53X,CNTN5:NM_014361:exon4:c.C157T:p.R53X . . . . . . 0.2630 0.2419 0.2851 0.2359 0.2586 0.2688 0.2744 0.2518 0.24 0.22 0.24 0.011 . rs12292659 COSM3931468;COSM3931467 2(haematopoietic_and_lymphoid_tissue);2(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.002 0.373 N 4.497e-28 0.810 P . . . . . . . . . . . . . . . . . . . . 11.668 0.977 38 0.998 0.914 0.734 0.356 D c 0.529 0.337 0.000 0.056 0.487 0.133 0 2.96 0.332 0.992 0.291 0.935 0.490 0.611 0.276 0.648 0.298 11.008 0.467 . . . 0.2133 0.1950 0.2327 0.2354 0.1986 0.2218 0.2122 0.2138 0.2004 0.2358 0.2253 0.2380 0.2801 0.2343 0.2348 0.2414 0.2331 het 1956.56 153 11 99690376 . C T 1956.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.493;DP=153;Dels=0.00;FS=2.142;HRun=0;HaplotypeScore=0.8941;MQ=58.75;MQ0=0;MQRankSum=-0.161;QD=12.79;ReadPosRankSum=-1.743;VQSLOD=5.0981;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,82:153:99:1987,0,1650 11 100061865 100061865 A G exonic CNTN5 nonsynonymous SNV CNTN5:NM_175566:exon11:c.A1366G:p.I456V,CNTN5:NM_001243270:exon13:c.A1588G:p.I530V,CNTN5:NM_001243271:exon14:c.A1588G:p.I530V,CNTN5:NM_014361:exon14:c.A1588G:p.I530V 0.071 0.088 0.068 0.065 0.1 0.027 0.0713 0.1125 0.0331 0.0446 0.0800 0.0840 0.0586 0.0328 0.094 0.11 0.085 0.098 . rs11223168 . . . . . . . . . . . . . 0.462 0.092 T 0.001 0.067 B 0.007 0.121 B 0.000 0.486 D 0.696 0.334 D 0.515 0.136 N -0.11 0.645 T -0.61 0.202 N 0.351 0.412 -1.073 0.089 T 0.003 0.008 T . . . 1.002 0.190 10.68 0.948 0.249 0.760 0.369 D c -0.299 -0.071 0.000 0.038 0.487 0.133 0 4.39 0.520 1.269 0.325 0.244 0.267 1.000 0.715 0.999 0.750 7.331 0.256 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.0690 0.1080 0.0409 0.0669 0.0461 0.0750 0.0822 0.0751 0.0320 0.0917 0.1115 0.0556 0.0629 0.0339 0.0770 0.0938 0.0682 het 324.39 32 11 100061865 . A G 324.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.663;DP=32;Dels=0.00;FS=1.475;HRun=0;HaplotypeScore=0.9469;MQ=55.82;MQ0=0;MQRankSum=0.529;QD=10.14;ReadPosRankSum=-1.435;VQSLOD=2.9519;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,15:32:99:354,0,480 11 100863096 100863096 A G exonic TMEM133 synonymous SNV TMEM133:NM_032021:exon1:c.A57G:p.E19E 0.39 0.12 0.4 0.76 0.2 0.55 0.3165 0.1341 0.5124 0.7444 0.3054 0.2092 0.3126 0.5089 0.18 0.13 0.21 0.32 0.28 rs515552 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3257 0.1300 0.4983 0.1803 0.7380 0.3054 0.2070 0.2768 0.5033 0.2405 0.1301 0.4438 0.1722 0.7429 0.3103 0.2218 0.2781 hom 3606.35 108 11 100863096 . A G 3606.35 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9818;MQ=58.27;MQ0=0;QD=33.39;VQSLOD=8.1111;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3606,286,0 11 100863354 100863354 C A exonic TMEM133 synonymous SNV TMEM133:NM_032021:exon1:c.C315A:p.V105V 0.39 0.12 0.39 0.76 0.2 0.54 0.3108 0.1315 0.5114 0.7431 0.3015 0.2020 0.3060 0.5017 0.18 0.13 0.21 0.29 0.29 rs471933 COSM5432723 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3208 0.1274 0.4972 0.1788 0.7367 0.3010 0.2007 0.2717 0.4947 0.2361 0.1280 0.4439 0.1722 0.7398 0.3056 0.2160 0.2745 hom 5590.31 175 11 100863354 . C A 5590.31 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6553;MQ=58.99;MQ0=0;QD=31.94;VQSLOD=9.5957;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5590,445,0 11 101771248 101771248 G A exonic ANGPTL5 nonsynonymous SNV ANGPTL5:NM_178127:exon7:c.C574T:p.R192W 1. 1. 1. 1. 0.99 1. 0.9928 0.9987 0.9955 1 0.9974 0.9888 0.9934 0.9979 1. 1. 0.99 0.98 0.99 rs3858418 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.998 0.222 P -4.4 0.000 N 0.01 0.918 T 13.45 0.000 N 0.1 0.181 -0.874 0.502 T 0.000 0.000 T . . . 3.003 0.421 22.2 0.188 0.006 0.083 0.140 N c -1.047 -0.631 0.175 0.178 0.487 0.133 0 4.88 0.630 5.972 0.699 0.168 0.246 1.000 0.715 0.990 0.544 10.855 0.458 Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain|Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular\x2c subdomain 1 . . 0.9932 0.9989 0.9957 0.9716 1 0.9978 0.9905 0.9912 0.9977 0.9958 0.9989 0.9976 0.9735 1 0.9980 0.9937 0.9908 hom 3565.73 119 11 101771248 . G A 3565.73 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7803;MQ=58.23;MQ0=0;QD=29.96;VQSLOD=8.5511;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3565,280,0 11 101832478 101832478 G T exonic CEP126 nonsynonymous SNV CEP126:NM_020802:exon6:c.G712T:p.G238C 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.85 rs7926728 COSM4591099 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 0.9999 1 1 1 1.0000 1 1 0.9999 1 1 1 1 0.9994 1 1 hom 1415.82 44 11 101832478 . G T 1415.82 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.18;VQSLOD=14.4544;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1449,111,0 11 101833644 101833644 C T exonic CEP126 synonymous SNV CEP126:NM_020802:exon6:c.C1878T:p.T626T 0.99 1. 0.98 1. 0.96 0.99 0.9815 0.9956 0.9865 0.9999 0.9935 0.9718 0.9834 0.9942 0.98 0.99 0.97 0.97 0.7 rs7109233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9814 0.9959 0.9862 0.9472 0.9999 0.9922 0.9727 0.9789 0.9939 0.9850 0.9961 0.9833 0.9371 1 0.9917 0.9769 0.9775 hom 1114.16 39 11 101833644 . C T 1114.16 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.57;VQSLOD=13.6186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:87.28:1147,87,0 11 101857758 101857758 G A exonic CEP126 nonsynonymous SNV CEP126:NM_020802:exon9:c.G3230A:p.S1077N 0.99 1. 0.98 1. 0.96 0.99 0.9815 0.9954 0.9864 0.9995 0.9935 0.9718 0.9835 0.9942 0.98 0.99 0.97 0.97 0.96 rs6590942 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.368 N 1.000 0.090 P -2.105 0.002 N 4.04 0.032 T 4.22 0.000 N 0.025 0.007 -0.986 0.336 T 0.000 0.000 T . . . 0.932 0.183 10.26 0.272 0.013 0.015 0.048 N c -0.856 -0.573 0.000 0.058 0.615 0.372 0 4.24 0.493 3.596 0.535 -0.124 0.112 1.000 0.715 0.496 0.270 9.406 0.374 . . . 0.9814 0.9958 0.9863 0.9472 0.9996 0.9922 0.9727 0.9794 0.9939 0.9851 0.9961 0.9833 0.9371 1 0.9920 0.9769 0.9776 hom 2635.55 91 11 101857758 . G A 2635.55 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9941;MQ=58.50;MQ0=0;QD=28.96;VQSLOD=7.4636;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2669,208,0 11 102477377 102477377 G T exonic MMP20 nonsynonymous SNV MMP20:NM_004771:exon6:c.C842A:p.T281N 0.42 0.26 0.44 0.43 0.44 0.59 0.4517 0.3039 0.4645 0.4395 0.3495 0.4519 0.4559 0.5821 0.41 0.31 0.46 0.4 0.48 rs1784424 COSM4998025 1(pancreas);1(oesophagus) Benign|Benign not_specified|Amelogenesis_Imperfecta\x2c_Recessive RCV000252691.1|RCV000351100.1 MedGen|MedGen CN169374|CN239209 . . . . . . 0.408 0.102 T 0.0 0.026 B 0.001 0.040 B 0.063 0.220 N 1.000 0.186 P 1.375 0.344 L 2.5 0.144 T -0.72 0.204 N 0.026 0.008 -0.920 0.456 T 0.000 0.000 T . . . -1.526 0.016 0.002 0.619 0.066 0.259 0.226 N c -1.060 -1.003 0.956 0.282 0.428 0.059 0 2.3 0.276 0.623 0.240 0.076 0.183 0.506 0.268 0.011 0.114 8.178 0.303 . . . 0.4534 0.3020 0.4644 0.4603 0.4491 0.3522 0.4561 0.4466 0.5814 0.3910 0.3069 0.4581 0.4603 0.4752 0.3549 0.4337 0.3969 hom 2596.39 83 11 102477377 . G T 2596.39 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=59.44;MQ0=0;QD=31.28;VQSLOD=9.6958;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2629,211,0 11 102477395 102477395 A G exonic MMP20 nonsynonymous SNV MMP20:NM_004771:exon6:c.T824C:p.V275A 0.42 0.26 0.44 0.43 0.44 0.59 0.4519 0.3043 0.4649 0.4403 0.3494 0.4520 0.4559 0.5824 0.41 0.31 0.46 0.4 0.48 rs1784423 COSM4997968 1(pancreas);1(oesophagus) Benign|Benign not_specified|Amelogenesis_Imperfecta\x2c_Recessive RCV000246718.1|RCV000395047.1 MedGen|MedGen CN169374|CN239209 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.622 0.058 N 1 0.090 P -1.28 0.007 N 2.69 0.123 T 0.36 0.037 N 0.02 0.004 -0.930 0.442 T 0.000 0.000 T . . . -0.888 0.036 0.027 0.562 0.054 0.002 0.010 N c -1.224 -1.109 0.996 0.345 0.428 0.059 0 4.53 0.548 0.748 0.258 -0.285 0.084 0.001 0.137 0.019 0.132 7.915 0.288 . . . 0.4534 0.3024 0.4646 0.4602 0.4492 0.3522 0.4561 0.4466 0.5814 0.3914 0.3073 0.4581 0.4603 0.4764 0.3551 0.4341 0.3961 hom 2667.37 88 11 102477395 . A G 2667.37 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=58.83;MQ0=0;QD=30.31;VQSLOD=9.5698;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2700,205,0 11 102495998 102495998 T G exonic MMP20 nonsynonymous SNV MMP20:NM_004771:exon1:c.A53C:p.K18T 0.68 0.6 0.68 0.8 0.63 0.69 0.6623 0.6226 0.6659 0.8301 0.6517 0.6385 0.6465 0.6983 0.64 0.62 0.64 0.69 0.7 rs2245803 . . Benign|Benign not_specified|Amelogenesis_Imperfecta\x2c_Recessive RCV000249690.1|RCV000279367.1 MedGen|MedGen CN169374|CN239209 . . . . . . 0.432 0.095 T 0.0 0.026 B 0.0 0.013 B 0.842 0.070 N 0.859 0.284 P 0 0.065 N 2.65 0.127 T 0.46 0.031 N 0.226 0.277 -1.012 0.264 T 0.000 0.000 T . . . 1.238 0.214 11.95 0.862 0.158 0.769 0.374 D c -0.572 -0.387 0.407 0.202 0.549 0.223 0 4.12 0.473 1.992 0.401 1.061 0.807 0.997 0.399 0.065 0.173 11.56 0.498 . . . 0.6647 0.6233 0.6713 0.6057 0.8326 0.6473 0.6427 0.6538 0.6977 0.6391 0.6187 0.6567 0.5662 0.8344 0.6453 0.6289 0.6373 hom 4125.02 130 11 102495998 . T G 4125.02 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6541;MQ=58.82;MQ0=0;QD=31.73;VQSLOD=8.7228;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:130:99:4088,337,0 11 102563739 102563739 C T exonic MMP27 synonymous SNV MMP27:NM_022122:exon9:c.G1227A:p.G409G 0.45 0.22 0.51 0.63 0.45 0.54 0.4685 0.2700 0.5776 0.5901 0.5197 0.4460 0.4703 0.5234 0.39 0.27 0.45 0.35 0.43 rs1276289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4784 0.2642 0.5683 0.4446 0.5988 0.5124 0.4460 0.4513 0.5282 0.4201 0.2641 0.5442 0.4801 0.6272 0.5140 0.4563 0.4530 het 1928.65 203 11 102563739 . C T 1928.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.661;DP=203;DS;Dels=0.00;FS=0.611;HRun=0;HaplotypeScore=4.7465;MQ=58.58;MQ0=0;MQRankSum=-0.508;QD=9.50;ReadPosRankSum=0.885;VQSLOD=5.2106;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:123,80:203:99:1959,0,3495 11 102567207 102567207 T A exonic MMP27 nonsynonymous SNV MMP27:NM_022122:exon6:c.A797T:p.E266V 0.44 0.17 0.5 0.63 0.44 0.54 0.4658 0.2317 0.5790 0.5911 0.5207 0.4469 0.4681 0.5239 0.38 0.24 0.45 0.34 0.45 rs1276286 COSM428288 1(skin);2(large_intestine) . . . . . . . . . . . 0.503 0.077 T 0.0 0.026 B 0.0 0.013 B 0.002 0.008 N 1 0.090 P -1.21 0.008 N 2.52 0.142 T -0.77 0.214 N 0.046 0.031 -0.933 0.438 T 0.000 0.000 T . . . -0.712 0.044 0.068 0.340 0.020 0.059 0.117 N c -1.603 -1.552 0.000 0.012 0.487 0.133 0 -1.3 0.087 -0.520 0.063 -0.798 0.032 0.000 0.063 0.000 0.016 5.235 0.147 . ENSG00000137675.4|ENSG00000137675.4|ENSG00000137675.4 Adipose_Subcutaneous|Breast_Mammary_Tissue|Muscle_Skeletal 0.4769 0.2269 0.5691 0.4449 0.5996 0.5131 0.4470 0.4512 0.5291 0.4096 0.2262 0.5460 0.4767 0.6300 0.5149 0.4565 0.4488 het 841.18 66 11 102567207 . T A 841.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.136;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.59;MQ0=0;MQRankSum=0.341;QD=12.75;ReadPosRankSum=1.075;VQSLOD=6.4878;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,36:66:99:871,0,823 11 102575379 102575379 T C exonic MMP27 nonsynonymous SNV MMP27:NM_022122:exon2:c.A230G:p.K77R 0.0064 0.0008 0.0058 . 0.026 0.001 0.0156 0.0039 0.0074 0 0.0244 0.0231 0.0121 0.0030 0.017 0.0057 0.022 0.022 0.041 rs61754772 . . . . . . . . . . . . . 0.126 0.272 T 0.0 0.026 B 0.003 0.080 B 0.050 0.231 N 1 0.090 N 1.27 0.322 L 1.23 0.369 T -1.4 0.346 N 0.02 0.004 -1.057 0.125 T 0.031 0.133 T . . . 0.651 0.156 8.502 0.988 0.468 0.143 0.181 N c -0.765 -0.754 0.643 0.221 0.487 0.133 0 0.479 0.159 0.200 0.169 0.080 0.190 0.000 0.063 0.983 0.502 6.782 0.227 Metallopeptidase\x2c catalytic domain|Peptidoglycan binding-like . . 0.0157 0.0037 0.0088 0.0116 0 0.0237 0.0242 0.0181 0.0026 0.0176 0.0039 0.0167 0.0099 0 0.0230 0.0263 0.0194 het 1431.16 115 11 102575379 . T C 1431.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.003;DP=115;Dels=0.00;FS=0.740;HRun=0;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;MQRankSum=-1.880;QD=12.44;ReadPosRankSum=-0.036;VQSLOD=5.0128;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,54:115:99:1461,0,1652 11 102576358 102576358 T C exonic MMP27 nonsynonymous SNV MMP27:NM_022122:exon1:c.A88G:p.M30V 0.82 0.92 0.72 0.88 0.68 0.81 0.7258 0.8729 0.7297 0.9071 0.6675 0.6724 0.7203 0.7748 0.73 0.87 0.66 0.9 0.57 rs2846707 . . . . . . . . . . . . . 0.59 0.058 T 0.002 0.090 B 0.012 0.149 B 0.022 0.016 N 1 0.090 P 0.66 0.163 N 2.2 0.186 T -1.16 0.297 N 0.026 0.008 -0.988 0.331 T 0.000 0.000 T . . . -1.994 0.008 0.001 0.361 0.023 0.051 0.108 N c -1.677 -1.641 0.472 0.207 0.487 0.133 0 0.184 0.143 -0.289 0.083 -2.341 0.003 0.000 0.063 0.006 0.095 7.201 0.249 Metallopeptidase\x2c catalytic domain|Peptidoglycan binding-like ENSG00000137675.4|ENSG00000137675.4|ENSG00000137675.4|ENSG00000255798.1|ENSG00000137675.4|ENSG00000137675.4|ENSG00000137675.4 Adipose_Subcutaneous|Breast_Mammary_Tissue|Esophagus_Muscularis|Liver|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.7126 0.8710 0.7189 0.6805 0.9019 0.6656 0.6643 0.7160 0.7609 0.7354 0.8742 0.7146 0.6556 0.9062 0.6625 0.6565 0.7281 hom 3385.65 114 11 102576358 . T C 3385.65 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=58.97;MQ0=0;QD=29.70;VQSLOD=9.1533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3385,256,0 11 102576375 102576375 G A exonic MMP27 nonsynonymous SNV MMP27:NM_022122:exon1:c.C71T:p.T24M 0.78 0.7 0.82 0.81 0.83 0.76 0.8199 0.7311 0.8078 0.7878 0.8698 0.8446 0.8304 0.7808 0.8 0.74 0.83 0.74 0.7 rs1939015 COSM1579495 1(ovary) . . . . . . . . . . . 0.391 0.108 T 0.002 0.090 B 0.003 0.080 B 0.036 0.245 N 1 0.090 P -0.625 0.021 N 1.28 0.360 T -0.91 0.245 N 0.033 0.013 -1.037 0.182 T 0.000 0.000 T . . . -0.724 0.044 0.063 0.062 0.000 0.004 0.021 N c -1.332 -1.354 0.645 0.221 0.487 0.133 0 -1.96 0.071 -1.277 0.029 -0.240 0.092 0.000 0.063 0.008 0.104 0.913 0.012 Metallopeptidase\x2c catalytic domain|Peptidoglycan binding-like . . 0.8182 0.7253 0.8007 0.7928 0.7839 0.8749 0.8421 0.8206 0.7730 0.8173 0.7377 0.8014 0.7848 0.7757 0.8734 0.8540 0.8551 hom 3765.35 134 11 102576375 . G A 3765.35 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4481;MQ=58.03;MQ0=0;QD=28.10;VQSLOD=7.2969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:3765,286,0 11 102576382 102576382 G A exonic MMP27 nonsynonymous SNV MMP27:NM_022122:exon1:c.C64T:p.R22W 0.17 0.17 0.15 0.3 0.067 0.15 0.1100 0.1702 0.1719 0.2554 0.0694 0.0661 0.0914 0.1473 0.099 0.17 0.064 0.17 0.082 rs12099177 COSM147312 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . 0.019 0.501 D 0.058 0.215 B 0.029 0.203 B 0.505 0.051 U 1 0.090 P 1.095 0.275 L 1.25 0.365 T -1.96 0.454 N 0.123 0.141 -0.986 0.335 T 0.000 0.000 T . . . 4.202 0.563 23.9 0.997 0.796 0.083 0.141 N c -0.849 -0.889 0.484 0.208 0.487 0.133 0 0.533 0.162 1.122 0.307 -0.305 0.080 0.002 0.151 0.000 0.016 3.919 0.087 Metallopeptidase\x2c catalytic domain|Peptidoglycan binding-like . . 0.1031 0.1582 0.1527 0.0534 0.2441 0.0698 0.0641 0.0859 0.1374 0.1153 0.1688 0.1483 0.0728 0.2658 0.0679 0.0792 0.0949 het 1423.60 137 11 102576382 . G A 1423.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.442;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6821;MQ=58.08;MQ0=0;MQRankSum=-0.288;QD=10.39;ReadPosRankSum=-0.704;VQSLOD=5.3720;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,61:137:99:1454,0,1832 11 102587062 102587062 G A exonic MMP8 synonymous SNV MMP8:NM_002424:exon6:c.C873T:p.L291L,MMP8:NM_001304441:exon7:c.C804T:p.L268L,MMP8:NM_001304442:exon7:c.C804T:p.L268L 0.12 0.0038 0.13 0.28 0.063 0.15 0.0943 0.0139 0.1613 0.2315 0.0716 0.0662 0.0850 0.1492 0.049 0.019 0.064 0.11 0.11 rs3740938 COSM147313 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0970 0.0113 0.1541 0.0915 0.2306 0.0712 0.0633 0.0872 0.1483 0.0685 0.0130 0.1377 0.1141 0.2356 0.0706 0.0766 0.0839 het 1599.78 141 11 102587062 . G A 1599.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.893;DP=141;Dels=0.00;FS=0.626;HRun=1;HaplotypeScore=4.8268;MQ=56.39;MQ0=0;MQRankSum=0.369;QD=11.35;ReadPosRankSum=0.077;VQSLOD=3.7459;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,68:141:99:1630,0,1712 11 102593248 102593248 T C exonic MMP8 nonsynonymous SNV MMP8:NM_002424:exon2:c.A259G:p.K87E,MMP8:NM_001304441:exon3:c.A190G:p.K64E,MMP8:NM_001304442:exon3:c.A190G:p.K64E 0.6 0.71 0.52 0.57 0.55 0.6 0.5423 0.6469 0.5100 0.6383 0.5477 0.5155 0.5275 0.5562 0.55 0.65 0.51 0.67 0.52 rs1940475 . . Benign not_specified RCV000455192.1 MedGen CN169374 . . . . . . 0.168 0.230 T 0.001 0.144 B 0.017 0.170 B 0.326 0.041 N 1.000 0.186 P 1.37 0.343 L 1.52 0.307 T -1.36 0.338 N 0.027 0.354 -0.955 0.401 T 0.000 0.000 T . . . 0.297 0.123 5.667 0.921 0.208 0.099 0.154 N c -1.171 -1.232 0.785 0.239 0.487 0.133 0 -6.06 0.020 -0.167 0.098 -0.518 0.050 0.001 0.137 0.040 0.157 12.095 0.529 Metallopeptidase\x2c catalytic domain|Peptidoglycan binding-like ENSG00000137675.4|ENSG00000137675.4 Adipose_Subcutaneous|Muscle_Skeletal 0.5405 0.6531 0.5180 0.5485 0.6316 0.5462 0.5125 0.5420 0.5526 0.5537 0.6468 0.5048 0.5033 0.6147 0.5467 0.4983 0.5542 het 895.31 83 11 102593248 . T C 895.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.006;DP=83;Dels=0.00;FS=10.681;HRun=1;HaplotypeScore=3.9831;MQ=58.91;MQ0=0;MQRankSum=-0.705;QD=10.79;ReadPosRankSum=0.835;VQSLOD=4.2032;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,35:83:99:925,0,1448 11 102595492 102595492 G A exonic MMP8 nonsynonymous SNV MMP8:NM_002424:exon1:c.C95T:p.T32I 0.65 0.81 0.56 0.58 0.59 0.65 0.5972 0.7540 0.5442 0.6420 0.5988 0.5711 0.5905 0.6169 0.62 0.75 0.56 0.73 0.48 rs3765620 . . Benign not_specified RCV000455827.1 MedGen CN169374 . . . . . . 0.271 0.160 T 0.0 0.026 B 0.001 0.040 B 0.174 0.031 N 1 0.090 P -1.065 0.010 N 1.29 0.358 T 2.26 0.003 N 0.018 0.299 -0.944 0.421 T 0.000 0.000 T . . . -0.931 0.035 0.022 0.950 0.254 0.000 0.002 N c -1.276 -1.240 0.000 0.048 0.487 0.133 0 0.964 0.187 0.684 0.249 -0.109 0.115 0.002 0.151 0.009 0.108 8.360 0.313 Metallopeptidase\x2c catalytic domain|Peptidoglycan binding-like ENSG00000137675.4|ENSG00000137675.4|ENSG00000137675.4 Adipose_Subcutaneous|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg 0.5918 0.7611 0.5490 0.6137 0.6362 0.5978 0.5651 0.6062 0.6115 0.6184 0.7576 0.5444 0.5728 0.6222 0.5983 0.5469 0.6171 het 2098.68 195 11 102595492 . G A 2098.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.334;DP=195;Dels=0.00;FS=1.846;HRun=1;HaplotypeScore=3.2768;MQ=59.08;MQ0=0;MQRankSum=2.230;QD=10.76;ReadPosRankSum=0.018;VQSLOD=5.8455;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,83:195:99:2129,0,2900 11 102666316 102666316 T C exonic MMP1 synonymous SNV MMP1:NM_001145938:exon5:c.A450G:p.A150A,MMP1:NM_002421:exon5:c.A648G:p.A216A 0.93 0.99 0.89 0.89 0.95 0.9 0.9304 0.9872 0.8352 0.8917 0.9231 0.9513 0.9073 0.9003 0.96 0.99 0.94 0.94 0.93 rs470558 . . Benign not_specified RCV000456077.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9240 0.9888 0.8439 0.9292 0.8843 0.9225 0.9517 0.9355 0.8976 0.9494 0.9871 0.8508 0.9272 0.8989 0.9221 0.9470 0.9235 hom 1796.33 62 11 102666316 . T C 1796.33 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.51;MQ0=0;QD=28.97;VQSLOD=8.2174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1829,156,0 11 102709425 102709425 A G exonic MMP3 synonymous SNV MMP3:NM_002422:exon8:c.T1086C:p.A362A 0.62 0.56 0.66 0.67 0.53 0.72 0.5669 0.5459 0.7005 0.6699 0.6051 0.5015 0.6015 0.6795 0.51 0.54 0.5 0.56 0.57 rs520540 COSM3752100 1(pancreas);1(large_intestine) Benign not_specified RCV000455579.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5741 0.5502 0.6992 0.6060 0.6708 0.6012 0.4901 0.5520 0.6743 0.5410 0.5467 0.6811 0.6391 0.6812 0.6035 0.4972 0.5570 het 840.08 62 11 102709425 . A G 840.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.035;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7236;MQ=59.63;MQ0=0;MQRankSum=0.810;QD=13.55;ReadPosRankSum=-0.373;VQSLOD=5.7635;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:870,0,768 11 102713465 102713465 A G exonic MMP3 synonymous SNV MMP3:NM_002422:exon2:c.T288C:p.D96D 0.62 0.55 0.66 0.67 0.53 0.72 0.5652 0.5415 0.7020 0.6690 0.5910 0.5008 0.5982 0.6783 0.51 0.54 0.5 0.55 0.52 rs602128 COSM428295 1(large_intestine) Benign not_specified RCV000455590.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5728 0.5461 0.7006 0.6062 0.6687 0.5884 0.4906 0.5507 0.6731 0.5382 0.5416 0.6779 0.6391 0.6766 0.5944 0.4973 0.5553 het 714.47 78 11 102713465 . A G 714.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.893;DP=78;Dels=0.00;FS=3.172;HRun=0;HaplotypeScore=1.9926;MQ=59.17;MQ0=0;MQRankSum=0.569;QD=9.16;ReadPosRankSum=0.590;VQSLOD=5.5957;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,30:78:99:744,0,1268 11 102713620 102713620 T C exonic MMP3 nonsynonymous SNV MMP3:NM_002422:exon2:c.A133G:p.K45E 0.65 0.67 0.68 0.67 0.53 0.72 0.5891 0.6534 0.7124 0.6765 0.5959 0.5190 0.6088 0.6852 0.55 0.64 0.5 0.64 0.48 rs679620 COSM428296 1(thyroid);1(large_intestine) Benign not_specified RCV000454524.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.064 0.022 N 1 0.090 P -0.09 0.047 N 1.34 0.348 T 0.02 0.068 N 0.017 0.009 -0.961 0.390 T 0.000 0.000 T . . . -2.442 0.004 0.001 0.276 0.014 0.035 0.086 N c -1.856 -1.779 0.060 0.152 0.497 0.185 0 -0.221 0.124 -0.176 0.097 -2.271 0.003 0.000 0.063 0.008 0.104 6.987 0.238 Metallopeptidase\x2c catalytic domain|Peptidoglycan binding-like ENSG00000255282.2|ENSG00000196611.4|ENSG00000255282.2 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Testis 0.5801 0.6521 0.7042 0.6058 0.6679 0.5883 0.4897 0.5545 0.6735 0.5682 0.6479 0.6835 0.6376 0.6766 0.5934 0.4975 0.5553 het 313.02 29 11 102713620 . T C 313.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.596;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;MQRankSum=-0.253;QD=10.79;ReadPosRankSum=-1.264;VQSLOD=6.1126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:343,0,343 11 102738793 102738793 - T exonic MMP12 unknown UNKNOWN . . . . . . 1.0000 1 1 1 1 1 1 0.9999 . . . . . rs5794199 COSM1350419 1(NS);1(large_intestine);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 0.9998 1 1 1 1 1 1 1 1 hom 1333.76 32 11 102738793 . G GT 1333.76 Mask AC=2;AF=1.00;AN=2;DP=32;FS=0.000;HRun=1;HaplotypeScore=175.1878;MQ=58.55;MQ0=0;QD=41.68;set=variant2 GT:AD:DP:GQ:PL 1/1:0,32:32:96.32:1376,96,0 11 102738795 102738795 G T exonic MMP12 unknown UNKNOWN . . . . . . 1 1 1 1 1 1 1 1 . . . . . rs5003690 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 951.02 32 11 102738795 . G T 951.02 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=29.72;VQSLOD=7.9566;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:75.24:984,75,0 11 102980324 102980324 C T exonic DYNC2H1 synonymous SNV DYNC2H1:NM_001080463:exon1:c.C21T:p.D7D,DYNC2H1:NM_001377:exon1:c.C21T:p.D7D 0.041 0.003 0.048 0.001 0.08 0.09 0.0761 0.0178 0.0429 0.0002 0.0462 0.0986 0.0751 0.0944 0.072 0.019 0.096 0.043 . rs17301028 . . Likely benign|other|Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_dystrophy|not_specified RCV000319173.1|RCV000373826.1|RCV000425517.2 MedGen|MedGen:SNOMED_CT|MedGen C0036996|C0265275:75049004|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0739 0.0147 0.0489 0.1298 0.0003 0.0447 0.0964 0.0794 0.0925 0.0604 0.0214 0.0371 0.1291 0.0006 0.0444 0.0921 0.0774 het 825.31 76 11 102980324 . C T 825.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.331;DP=76;Dels=0.00;FS=4.654;HRun=0;HaplotypeScore=1.7825;MQ=59.01;MQ0=0;MQRankSum=0.573;QD=10.86;ReadPosRankSum=-0.700;VQSLOD=5.9902;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,32:76:99:855,0,1154 11 103052558 103052558 T C exonic DYNC2H1 synonymous SNV DYNC2H1:NM_001080463:exon40:c.T6420C:p.N2140N,DYNC2H1:NM_001377:exon40:c.T6420C:p.N2140N 0.13 0.073 0.092 0.23 0.11 0.17 0.1961 0.1255 0.1485 0.3218 0.2061 0.1913 0.2049 0.2025 0.097 0.075 0.11 0.13 . rs11225584 COSN23012287 1(large_intestine) Benign|Benign|Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_dystrophy|not_specified RCV000342578.1|RCV000405251.1|RCV000425509.2 MedGen|MedGen:SNOMED_CT|MedGen C0036996|C0265275:75049004|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1154 0.0784 0.0543 0.1059 0.2167 0.1311 0.1094 0.1109 0.1587 0.1136 0.0789 0.0704 0.1060 0.2207 0.1253 0.1219 0.1189 het 174.15 13 11 103052558 . T C 174.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.991;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.07;MQ0=0;MQRankSum=-0.696;QD=13.40;ReadPosRankSum=0.437;VQSLOD=6.8564;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,8:13:99:204,0,111 11 103057048 103057048 A G exonic DYNC2H1 synonymous SNV DYNC2H1:NM_001080463:exon42:c.A6711G:p.R2237R,DYNC2H1:NM_001377:exon42:c.A6711G:p.R2237R 0.57 0.5 0.67 0.55 0.62 0.57 0.6204 0.5209 0.7726 0.5424 0.6291 0.6334 0.6141 0.5591 0.6 0.53 0.63 0.55 . rs658804 . . Benign|Benign|Benign Jeune_thoracic_dystrophy|Short_Rib_Polydactyly_Syndrome|not_specified RCV000273552.1|RCV000368121.1|RCV000432224.1 MedGen:SNOMED_CT|MedGen|MedGen C0265275:75049004|C0036996|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6263 0.5190 0.7611 0.6666 0.5407 0.6320 0.6278 0.6284 0.5580 0.5917 0.5266 0.7045 0.6921 0.5586 0.6241 0.6159 0.6094 het 421.05 31 11 103057048 . A G 421.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.738;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.73;MQ0=0;MQRankSum=-1.867;QD=13.58;ReadPosRankSum=0.249;VQSLOD=5.0779;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,16:31:99:451,0,403 11 103058126 103058126 C T exonic DYNC2H1 synonymous SNV DYNC2H1:NM_001080463:exon43:c.C6951T:p.H2317H,DYNC2H1:NM_001377:exon43:c.C6951T:p.H2317H 0.62 0.66 0.69 0.55 0.62 0.57 0.6330 0.6628 0.7757 0.5429 0.6334 0.6339 0.6180 0.5592 0.64 0.67 0.63 0.61 . rs586592 COSN19656759;COSN6606592 1(liver);1(oesophagus) Benign|Benign|Benign not_specified|Jeune_thoracic_dystrophy|Short_Rib_Polydactyly_Syndrome RCV000079444.5|RCV000290279.1|RCV000384618.1 MedGen|MedGen:SNOMED_CT|MedGen CN169374|C0265275:75049004|C0036996 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6368 0.6603 0.7663 0.6677 0.5404 0.6367 0.6286 0.6329 0.5583 0.6332 0.6667 0.7148 0.69 0.5598 0.6305 0.6174 0.6173 het 1296.52 99 11 103058126 . C T 1296.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.070;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4694;MQ=58.83;MQ0=0;MQRankSum=0.711;QD=13.10;ReadPosRankSum=-1.146;VQSLOD=5.9989;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,52:99:99:1327,0,1426 11 103158278 103158278 C T exonic DYNC2H1 nonsynonymous SNV DYNC2H1:NM_001377:exon75:c.C11039T:p.A3680V,DYNC2H1:NM_001080463:exon76:c.C11060T:p.A3687V 0.29 0.17 0.25 0.3 0.34 0.4 0.3329 0.1970 0.2145 0.2963 0.3512 0.3561 0.3476 0.4107 0.31 0.2 0.35 0.27 . rs10895391 . . Benign|Benign|Benign Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_dystrophy|not_specified RCV000294784.1|RCV000333401.1|RCV000426488.2 MedGen|MedGen:SNOMED_CT|MedGen C0036996|C0265275:75049004|CN169374 . . . . . . 0.107 0.296 T 0.596 0.465 P 0.201 0.385 B 0.000 0.843 D 0.000 0.810 P 2.27 0.647 M 2.93 0.098 T -2.95 0.615 D 0.722 0.722 -0.848 0.521 T 0.000 0.000 T . . . 4.915 0.660 25.0 0.998 0.890 0.965 0.694 D c 0.479 0.567 1.000 0.473 0.638 0.428 0 5.79 0.917 6.030 0.703 0.935 0.490 1.000 0.715 0.984 0.507 19.626 0.957 Dynein heavy chain domain . . 0.3190 0.1881 0.2219 0.2851 0.2789 0.3330 0.3518 0.3223 0.3940 0.3061 0.1989 0.2356 0.2848 0.2783 0.3500 0.3629 0.3490 hom 1136.31 44 11 103158278 . C T 1136.31 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.654;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=58.29;MQ0=0;MQRankSum=1.339;QD=25.83;ReadPosRankSum=0.945;VQSLOD=6.4916;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,43:44:93.28:1169,93,0 11 103908735 103908735 G A exonic DDI1 synonymous SNV DDI1:NM_001001711:exon1:c.G1185A:p.E395E 0.37 0.11 0.58 0.4 0.48 0.43 0.4606 0.1728 0.6987 0.4026 0.5106 0.4671 0.4851 0.4423 0.37 0.18 0.47 0.28 0.37 rs1052313 COSM4419792;COSM4419791 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4652 0.1584 0.6803 0.4162 0.4037 0.5062 0.4604 0.4427 0.4248 0.3943 0.1711 0.6379 0.4338 0.3894 0.4951 0.4813 0.4785 het 358.13 36 11 103908735 . G A 358.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.301;DP=36;Dels=0.00;FS=3.353;HRun=1;HaplotypeScore=2.8253;MQ=60.00;MQ0=0;MQRankSum=0.513;QD=9.95;ReadPosRankSum=-0.613;VQSLOD=5.8122;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,16:36:99:388,0,531 11 104819327 104819327 T C exonic CASP4 synonymous SNV CASP4:NM_001225:exon6:c.A858G:p.L286L,CASP4:NM_033306:exon6:c.A690G:p.L230L 0.95 0.82 0.98 1. 1. 1. 0.9858 0.8479 0.9915 1 1 0.9994 0.9945 1 0.95 0.85 1. 0.92 1. rs9507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9890 0.8503 0.9917 0.9994 1 1 0.9994 0.9910 0.9998 0.9585 0.8559 0.9856 1 1 1 0.9995 0.9908 hom 2895.99 89 11 104819327 . T C 2895.99 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9066;MQ=58.21;MQ0=0;QD=32.54;VQSLOD=9.1639;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2929,229,0 11 104878040 104878040 - T exonic CASP5 frameshift insertion CASP5:NM_001136109:exon2:c.28dupA:p.T10Nfs*2,CASP5:NM_001136112:exon3:c.241dupA:p.T81Nfs*2,CASP5:NM_004347:exon3:c.202dupA:p.T68Nfs*2 . . . . . . 0.1226 0.1474 0.1139 0.1500 0.0726 0.1067 0.1051 0.1894 0.083 0.09 0.079 . . rs112680102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0447 0.0710 0.0522 0.0616 0.0396 0.0602 0.0346 0.0432 0.0499 0.0107 0.0255 0.0097 0.0037 0.0006 0.0129 0.0027 0.0107 het 562.83 74 11 104878040 . G GT 562.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.982;DP=74;FS=1.047;HRun=10;HaplotypeScore=194.2523;MQ=59.81;MQ0=1;MQRankSum=0.383;QD=7.50;ReadPosRankSum=0.543;set=variant2 GT:AD:DP:GQ:PL 0/1:46,27:74:99:602,0,528 11 107299631 107299631 G A exonic CWF19L2 nonsynonymous SNV CWF19L2:NM_152434:exon8:c.C1327T:p.H443Y 0.11 0.16 0.14 0.002 0.22 0.042 0.1643 0.1720 0.1060 0.0012 0.1464 0.2208 0.1567 0.0649 0.2 0.18 0.22 0.16 . rs659040 COSM4165632;COSM4165631 1(kidney) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.008 N 1 0.090 P -0.22 0.040 N 2.01 0.213 T -0.37 0.132 N 0.052 0.054 -0.986 0.336 T 0.000 0.000 T . . . -2.031 0.008 0.001 0.210 0.008 0.006 0.027 N c -1.529 -1.572 0.016 0.128 0.707 0.730 0 -3.67 0.042 -1.717 0.020 -1.389 0.012 0.000 0.063 0.000 0.016 2.301 0.039 . ENSG00000152404.11|ENSG00000261098.1|ENSG00000261098.1|ENSG00000152404.11|ENSG00000261098.1|ENSG00000152404.11|ENSG00000261098.1|ENSG00000152404.11|ENSG00000261098.1|ENSG00000152404.11|ENSG00000152404.11|ENSG00000261098.1|ENSG00000152404.11|ENSG00000261098.1|ENSG00000152404.11|ENSG00000261098.1|ENSG00000152404.11|ENSG00000261098.1|ENSG00000152404.11|ENSG00000261098.1|ENSG00000152404.11|ENSG00000152404.11|ENSG00000261098.1|ENSG00000255353.1|ENSG00000152404.11|ENSG00000152404.11|ENSG00000261098.1|ENSG00000152404.11|ENSG00000261098.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.1614 0.1740 0.1142 0.2213 0.0006 0.1449 0.2213 0.2015 0.0648 0.1746 0.1639 0.1184 0.2020 0.0019 0.1369 0.2105 0.1814 het 1588.45 132 11 107299631 . G A 1588.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.987;DP=132;Dels=0.00;FS=3.115;HRun=0;HaplotypeScore=4.9087;MQ=57.63;MQ0=0;MQRankSum=2.881;QD=12.03;ReadPosRankSum=0.460;VQSLOD=3.8179;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,67:132:99:1618,0,1792 11 107917087 107917087 A G exonic CUL5 synonymous SNV CUL5:NM_003478:exon3:c.A225G:p.Q75Q 0.66 0.37 0.74 0.9 0.66 0.76 0.6693 0.4007 0.7581 0.9027 0.6410 0.6576 0.6751 0.7114 0.57 0.4 0.66 0.59 0.63 rs7117111 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6758 0.3941 0.7517 0.6586 0.8992 0.6380 0.6566 0.6669 0.7137 0.5970 0.3995 0.7375 0.6788 0.8981 0.6410 0.6547 0.6714 hom 1597.80 46 11 107917087 . A G 1597.80 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.73;VQSLOD=13.5963;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1631,126,0 11 108032707 108032707 G T exonic NPAT nonsynonymous SNV NPAT:NM_001321307:exon17:c.C3127A:p.L1043I,NPAT:NM_002519:exon17:c.C3106A:p.L1036I 0.015 0.0023 0.037 . 0.043 0.002 0.0221 0.0067 0.0242 0 0.0059 0.0323 0.0215 0.0057 0.028 0.0062 0.037 0.022 0.033 rs35303872 . . . . . . . . . . . . . 0.055 0.384 T 0.867 0.457 P 0.544 0.472 P 0.028 0.257 N 0.996 0.232 N 2.585 0.758 M 3.66 0.043 T -0.84 0.229 N 0.037 0.129 -1.009 0.273 T 0.003 0.009 T . . . 0.078 0.101 3.374 0.988 0.459 0.320 0.243 N c -0.176 -0.233 1.000 0.416 0.707 0.730 0 4.93 0.643 0.496 0.220 0.135 0.219 0.001 0.137 0.457 0.264 7.592 0.270 Protein NPAT\x2c C-terminal domain . . 0.0220 0.0061 0.0265 0.0154 0 0.0050 0.0345 0.0266 0.0054 0.0185 0.0066 0.0442 0.0132 0 0.0037 0.0299 0.0133 het 1182.76 103 11 108032707 . G T 1182.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.915;DP=103;Dels=0.00;FS=4.491;HRun=0;HaplotypeScore=0.9469;MQ=59.37;MQ0=0;MQRankSum=-1.815;QD=11.48;ReadPosRankSum=-0.969;VQSLOD=4.4184;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,48:103:99:1213,0,1472 11 108043988 108043988 C T exonic NPAT nonsynonymous SNV NPAT:NM_001321307:exon13:c.G1723A:p.V575I,NPAT:NM_002519:exon13:c.G1723A:p.V575I 0.62 0.65 0.67 0.46 0.63 0.68 0.5950 0.6409 0.6618 0.4456 0.6334 0.5798 0.5884 0.6454 0.59 0.63 0.58 0.54 0.64 rs2070661 COSM3752119 1(breast);2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.010 0.300 N 1 0.090 P -1.905 0.002 N 2.12 0.197 T 0.11 0.057 N 0.022 0.017 -0.944 0.419 T 0.000 0.000 T . . . -0.328 0.066 0.572 0.082 0.001 0.092 0.148 N c -0.875 -0.618 0.032 0.141 0.707 0.730 0 4.93 0.643 1.308 0.329 0.154 0.240 0.980 0.350 0.159 0.207 4.437 0.109 . ENSG00000149311.13|ENSG00000075239.9|ENSG00000149311.13|ENSG00000075239.9|ENSG00000075239.9|ENSG00000149311.13|ENSG00000255467.1|ENSG00000149311.13|ENSG00000149311.13 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Thyroid|Whole_Blood 0.6025 0.6377 0.6713 0.6481 0.4484 0.6312 0.5783 0.6255 0.6443 0.5951 0.6383 0.6885 0.6424 0.4241 0.6297 0.5717 0.6293 het 1878.83 140 11 108043988 . C T 1878.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.775;DP=140;Dels=0.00;FS=7.097;HRun=2;HaplotypeScore=1.9954;MQ=59.26;MQ0=0;MQRankSum=0.150;QD=13.42;ReadPosRankSum=0.331;VQSLOD=5.2717;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,68:140:99:1909,0,1973 11 108175544 108175544 - G exonic ATM frameshift insertion ATM:NM_000051:exon37:c.5640dupG:p.S1881Efs*22 . . . . . . . . . . . . . . . . . . . rs374376614 COSM1724461;COSM1724460 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 183.77 76 11 108175544 . C CG 183.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.548;DP=76;FS=98.848;HRun=1;HaplotypeScore=418.9612;MQ=60.52;MQ0=0;MQRankSum=3.225;QD=2.42;ReadPosRankSum=-4.933;set=variant2 GT:AD:DP:GQ:PL 0/1:45,31:76:99:223,0,1153 11 108183167 108183167 A G exonic ATM nonsynonymous SNV ATM:NM_000051:exon40:c.A5948G:p.N1983S 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs659243 COSM4590263;COSM4590264 23(upper_aerodigestive_tract) Benign\x2cBenign Hereditary_cancer-predisposing_syndrome\x2cnot_specified RCV000128947.1\x2cRCV000120149.2 MedGen:SNOMED_CT\x2cMedGen C0027672:699346009\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 4323.47 155 11 108183167 . A G 4323.47 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;QD=27.89;VQSLOD=8.0955;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4323,319,0 11 108380335 108380335 T C exonic EXPH5 nonsynonymous SNV EXPH5:NM_001144765:exon3:c.A5335G:p.N1779D,EXPH5:NM_001144764:exon4:c.A5431G:p.N1811D,EXPH5:NM_001144763:exon6:c.A5671G:p.N1891D,EXPH5:NM_015065:exon6:c.A5899G:p.N1967D,EXPH5:NM_001308019:exon7:c.A5878G:p.N1960D 1. 1. 1. 1. 1. 1. 0.9999 0.9988 0.9996 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs1943382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9984 0.9998 1 1 1 1.0000 1 1 0.9995 0.9984 1 1 1 1 1 1 hom 6728.44 228 11 108380335 . T C 6728.44 Mask AC=2;AF=1.00;AN=2;DP=228;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7229;MQ=59.18;MQ0=0;QD=29.51;VQSLOD=8.9200;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,228:228:99:6728,503,0 11 108381247 108381247 C T exonic EXPH5 nonsynonymous SNV EXPH5:NM_001144765:exon3:c.G4423A:p.G1475R,EXPH5:NM_001144764:exon4:c.G4519A:p.G1507R,EXPH5:NM_001144763:exon6:c.G4759A:p.G1587R,EXPH5:NM_015065:exon6:c.G4987A:p.G1663R,EXPH5:NM_001308019:exon7:c.G4966A:p.G1656R 0.29 0.028 0.37 0.64 0.25 0.25 0.2921 0.0573 0.5043 0.6674 0.3149 0.2461 0.3117 0.2709 0.18 0.063 0.24 0.27 0.2 rs2640779 COSM147321 1(stomach);4(prostate);1(large_intestine) . . . . . . . . . . . 0.296 0.147 T 0.049 0.208 B 0.017 0.170 B 0.193 0.168 N 1 0.090 P 1.7 0.440 L 4.38 0.026 T -1.37 0.522 N 0.055 0.394 -1.110 0.031 T 0.000 0.000 T . . . 3.285 0.454 22.8 0.779 0.117 0.085 0.142 N c -0.743 -0.773 0.991 0.323 0.615 0.372 0 3.44 0.383 1.811 0.383 0.789 0.320 0.010 0.182 0.001 0.043 11.093 0.472 . ENSG00000075239.9|ENSG00000149311.13 Cells_Transformed_fibroblasts|Thyroid 0.3040 0.0534 0.4769 0.3049 0.6636 0.3177 0.2381 0.2833 0.2710 0.2307 0.0579 0.4327 0.3377 0.6840 0.3257 0.2432 0.2832 het 3083.04 223 11 108381247 . C T 3083.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.707;DP=223;Dels=0.00;FS=4.726;HRun=0;HaplotypeScore=6.5618;MQ=59.07;MQ0=0;MQRankSum=-0.586;QD=13.83;ReadPosRankSum=0.348;VQSLOD=4.7518;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,111:223:99:3113,0,2964 11 108381644 108381644 T C exonic EXPH5 synonymous SNV EXPH5:NM_001144765:exon3:c.A4026G:p.L1342L,EXPH5:NM_001144764:exon4:c.A4122G:p.L1374L,EXPH5:NM_001144763:exon6:c.A4362G:p.L1454L,EXPH5:NM_015065:exon6:c.A4590G:p.L1530L,EXPH5:NM_001308019:exon7:c.A4569G:p.L1523L 0.019 0.0015 0.01 0.001 0.034 0.053 0.0296 0.0068 0.0092 0.0003 0.0367 0.0331 0.0497 0.0554 0.027 0.0089 0.036 0.043 0.016 rs79942405 COSM3752122 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0299 0.0058 0.0094 0.0604 0.0002 0.0371 0.0325 0.0297 0.0569 0.0248 0.0049 0.0167 0.0629 0 0.0352 0.0353 0.0387 het 746.33 51 11 108381644 . T C 746.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.950;DP=51;Dels=0.00;FS=12.540;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.405;QD=14.63;ReadPosRankSum=1.046;VQSLOD=3.3475;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,25:51:99:776,0,710 11 108384207 108384207 C T exonic EXPH5 nonsynonymous SNV EXPH5:NM_001144765:exon3:c.G1463A:p.S488N,EXPH5:NM_001144764:exon4:c.G1559A:p.S520N,EXPH5:NM_001144763:exon6:c.G1799A:p.S600N,EXPH5:NM_015065:exon6:c.G2027A:p.S676N,EXPH5:NM_001308019:exon7:c.G2006A:p.S669N 0.64 0.7 0.55 0.85 0.44 0.62 0.5286 0.6657 0.6805 0.8756 0.4761 0.4271 0.5253 0.5854 0.5 0.66 0.42 0.61 0.41 rs2846412 COSM3752123 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.213 0.163 N 1 0.090 P -0.805 0.016 N 4.38 0.038 T 1.12 0.012 N 0.002 0.013 -1.021 0.234 T 0.000 0.000 T . . . -1.902 0.009 0.002 0.163 0.004 0.001 0.005 N c -1.689 -1.564 0.690 0.226 0.447 0.083 0 1.14 0.197 0.744 0.257 -0.673 0.039 0.004 0.165 0.000 0.016 9.569 0.384 . ENSG00000178202.8 Esophagus_Muscularis 0.5311 0.6720 0.6581 0.5337 0.8676 0.4767 0.4196 0.4905 0.5841 0.5352 0.6570 0.6265 0.5563 0.8646 0.4920 0.4351 0.5092 het 1251.45 88 11 108384207 . C T 1251.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.177;DP=88;Dels=0.00;FS=0.796;HRun=1;HaplotypeScore=0.9933;MQ=59.74;MQ0=0;MQRankSum=-0.383;QD=14.22;ReadPosRankSum=-1.942;VQSLOD=6.0017;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,50:88:99:1281,0,1018 11 108409784 108409784 T A exonic EXPH5 nonsynonymous SNV EXPH5:NM_001144763:exon3:c.A182T:p.E61V,EXPH5:NM_015065:exon3:c.A410T:p.E137V,EXPH5:NM_001308019:exon4:c.A389T:p.E130V 0.25 0.039 0.35 0.58 0.17 0.22 0.2322 0.0593 0.4916 0.6011 0.2177 0.1733 0.2390 0.2102 0.13 0.064 0.17 0.24 0.17 rs2640785 COSM3752124 1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 0.989 0.609 D 0.836 0.581 P 0.036 0.246 N 0.070 0.369 P 1.04 0.263 L 3.92 0.407 T -3.82 0.929 D 0.553 0.588 -0.888 0.492 T 0.000 0.000 T . . . 6.262 0.865 29.0 0.992 0.564 0.906 0.517 D c 0.559 0.520 1.000 0.747 0.554 0.246 0 4.99 0.658 1.561 0.357 1.061 0.807 0.954 0.330 0.981 0.494 11.385 0.488 . ENSG00000075239.9|ENSG00000149311.13 Cells_Transformed_fibroblasts|Thyroid 0.2442 0.056 0.4604 0.2404 0.5990 0.2194 0.1664 0.2266 0.2110 0.1795 0.0589 0.4019 0.2367 0.6273 0.2264 0.1748 0.2149 het 2509.97 206 11 108409784 . T A 2509.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.584;DP=206;Dels=0.00;FS=4.828;HRun=0;HaplotypeScore=6.9394;MQ=58.54;MQ0=0;MQRankSum=1.988;QD=12.18;ReadPosRankSum=-0.809;VQSLOD=4.3236;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,103:206:99:2540,0,2557 11 108464209 108464209 T C exonic EXPH5 nonsynonymous SNV EXPH5:NM_015065:exon1:c.A55G:p.R19G,EXPH5:NM_001308019:exon2:c.A34G:p.R12G 0.39 0.2 0.56 0.38 0.49 0.41 0.4514 0.2453 0.5758 0.3756 0.5608 0.4690 0.4626 0.4185 0.4 0.25 0.48 0.27 0.37 rs2640738 COSM147323 1(stomach);1(pancreas);1(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.998 0.715 D 0.948 0.668 D 0.004 0.339 N 0.676 0.303 P -0.695 0.019 N 4.26 0.026 T -3.93 0.732 D 0.217 0.469 -0.929 0.443 T 0.000 0.000 T . . . 4.701 0.630 24.6 0.998 0.911 0.235 0.219 N c 0.266 0.222 1.000 0.747 0.564 0.319 0 2.85 0.322 0.503 0.222 1.061 0.807 1.000 0.715 1.000 0.888 5.986 0.185 Rab-binding domain|Zinc finger\x2c RING/FYVE/PHD-type ENSG00000254702.1 Nerve_Tibial 0.4627 0.2464 0.5718 0.3889 0.3728 0.5496 0.4736 0.4568 0.4234 0.4305 0.2542 0.5517 0.4106 0.3401 0.5680 0.4989 0.5173 hom 4460.69 147 11 108464209 . T C 4460.69 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=59.33;MQ0=0;QD=30.34;VQSLOD=9.1100;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4460,361,0 11 110451885 110451885 A G exonic ARHGAP20 synonymous SNV ARHGAP20:NM_001258415:exon15:c.T1716C:p.D572D,ARHGAP20:NM_001258417:exon15:c.T1677C:p.D559D,ARHGAP20:NM_001258418:exon15:c.T1677C:p.D559D,ARHGAP20:NM_001258416:exon16:c.T1707C:p.D569D,ARHGAP20:NM_020809:exon16:c.T1785C:p.D595D 0.052 0.045 0.056 0.04 0.071 0.051 0.0647 0.0477 0.0300 0.0332 0.0615 0.0778 0.0541 0.0648 0.065 0.05 0.072 0.022 0.11 rs10488765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0615 0.0468 0.0292 0.0685 0.0342 0.0564 0.0767 0.0651 0.0654 0.0653 0.0483 0.0370 0.0861 0.0395 0.0576 0.0808 0.0682 het 1924.91 142 11 110451885 . A G 1924.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.662;DP=142;Dels=0.00;FS=2.404;HRun=0;HaplotypeScore=4.4497;MQ=59.68;MQ0=0;MQRankSum=-0.604;QD=13.56;ReadPosRankSum=0.798;VQSLOD=5.4923;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,71:142:99:1955,0,1866 11 111368047 111368047 G T exonic BTG4 synonymous SNV BTG4:NM_017589:exon4:c.C399A:p.A133A 0.98 0.92 0.99 1. 1. 1. 0.9943 0.9377 0.9971 1 1 0.9999 0.9967 1 0.98 0.94 1. 1. 1. rs489078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9957 0.9409 0.9968 1 0.9999 1 0.9999 0.9982 1 0.9830 0.9408 0.9964 1 1 1 0.9999 0.9959 hom 4330.35 134 11 111368047 . G T 4330.35 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.83;MQ0=0;QD=32.32;VQSLOD=9.6256;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:134:99:4330,340,0 11 111420364 111420364 A G exonic LAYN synonymous SNV LAYN:NM_178834:exon3:c.A405G:p.P135P,LAYN:NM_001258390:exon4:c.A429G:p.P143P 0.96 0.87 0.98 1. 1. 1. 0.9894 0.8837 0.9952 1 1 0.9998 0.9956 0.9996 0.96 0.89 1. 0.97 0.99 rs634679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9923 0.8875 0.9944 1 1 1 0.9998 0.9964 0.9997 0.9674 0.8861 0.9928 1 1 1 0.9998 0.9929 hom 4668.09 150 11 111420364 . A G 4668.09 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.88;MQ0=0;QD=31.12;VQSLOD=9.3208;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4667,394,0 11 111637064 111637064 C G exonic PPP2R1B nonsynonymous SNV PPP2R1B:NM_001177562:exon1:c.G22C:p.G8R,PPP2R1B:NM_001177563:exon1:c.G22C:p.G8R,PPP2R1B:NM_002716:exon1:c.G22C:p.G8R,PPP2R1B:NM_181699:exon1:c.G22C:p.G8R,PPP2R1B:NM_181700:exon1:c.G22C:p.G8R 0.0008 0.0023 0.0014 . . . 0.0002 0.0015 8.694e-05 0 0 9.137e-05 0 0 0.0005 0.0014 . . 0.0082 rs142771326 . . . . . . . . . . . . . 0.013 0.912 D 0.358 0.764 B 0.16 0.818 B 0.650 0.105 N 0.615 0.326 D 0.695 0.181 N . . . -0.74 0.383 N 0.203 0.311 -0.509 0.684 T 0.280 0.652 T 0.239 0.887 D 1.891 0.288 15.54 0.998 0.885 0.161 0.190 N c -0.433 -0.504 1.000 0.747 0.442 0.072 0 4.31 0.505 1.422 0.342 0.925 0.434 0.023 0.197 0.007 0.100 12.022 0.525 . . . 0.0002 0.0013 0.0002 0 0 0 0.0002 0.0002 0 0.0003 0.0007 0 0 0 0 0.0002 0 het 634.33 61 11 111637064 . C G 634.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.619;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=55.70;MQ0=0;MQRankSum=0.667;QD=10.40;ReadPosRankSum=0.857;VQSLOD=4.2263;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:664,0,793 11 111707001 111707001 T C exonic ALG9 nonsynonymous SNV ALG9:NM_001077691:exon13:c.A976G:p.I326V,ALG9:NM_001077692:exon13:c.A955G:p.I319V,ALG9:NM_001077690:exon14:c.A1468G:p.I490V,ALG9:NM_024740:exon14:c.A1489G:p.I497V 0.0002 . . . 0.001 . 0.0001 0 0 0 0 0.0002 0 0 0.0002 0.0003 0.0001 . 0.0082 rs138584071 COSM1193263;COSM1193262;COSM1193264 1(lung) . . . . . . . . . . . 0.29 0.150 T 0.274 0.353 B 0.069 0.318 B 0.000 0.843 D 1 0.810 D 1.635 0.420 L -0.99 0.759 T -0.58 0.174 N 0.44 0.499 -0.726 0.592 T 0.236 0.603 T 0.016 0.365 T 4.273 0.572 24.0 0.989 0.481 0.984 0.819 D c 0.032 0.203 1.000 0.747 0.706 0.609 0 5.2 0.716 7.951 0.872 0.964 0.580 1.000 0.715 1.000 0.888 15.354 0.740 . . . 0.0002 6.542e-05 0.0002 0 0 8.969e-05 0.0003 0.0005 0 6.456e-05 0 0 0 0 0 0.0001 0 het 1102.66 95 11 111707001 . T C 1102.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.826;DP=95;Dels=0.00;FS=4.004;HRun=0;HaplotypeScore=2.7348;MQ=58.27;MQ0=0;MQRankSum=-0.019;QD=11.61;ReadPosRankSum=-0.361;VQSLOD=3.7031;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,46:95:99:1133,0,1250 11 111749349 111749349 A T exonic FDXACB1 nonsynonymous SNV FDXACB1:NM_138378:exon2:c.T260A:p.I87N 0.92 0.94 0.9 0.97 0.83 0.96 0.8895 0.9268 0.9357 0.9827 0.9005 0.8466 0.9058 0.9557 0.86 0.92 0.83 0.89 . rs611010 COSM5021734;COSM5021735;COSM5021733;COSM5021732 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.996 0.810 P -4.03 0.000 N 2.03 0.210 T 8.83 0.000 N 0.15 0.178 -0.942 0.424 T 0.000 0.000 T . . . 1.858 0.284 15.33 0.929 0.218 0.068 0.127 N c -0.889 -0.464 1.000 0.747 0.442 0.072 0 6.17 0.997 5.879 0.692 0.152 0.238 1.000 0.715 0.985 0.512 13.065 0.583 Domain of unknown function DUF2431 ENSG00000137713.11|ENSG00000137713.11|ENSG00000137713.11|ENSG00000137713.11|ENSG00000137713.11|ENSG00000137713.11|ENSG00000137713.11|ENSG00000137713.11|ENSG00000137713.11|ENSG00000137713.11 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Hippocampus|Colon_Sigmoid|Esophagus_Muscularis|Lung|Nerve_Tibial|Thyroid 0.8831 0.9284 0.9228 0.8382 0.9783 0.8980 0.8323 0.8660 0.9542 0.8805 0.9300 0.9010 0.7947 0.9753 0.8989 0.8376 0.8819 het 388.24 38 11 111749349 . A T 388.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.939;DP=38;Dels=0.00;FS=1.290;HRun=1;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=-0.998;QD=10.22;ReadPosRankSum=0.646;VQSLOD=6.2055;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,17:38:99:418,0,522 11 111853106 111853106 - C exonic DIXDC1 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 0.022 . rs376922505 COSM5713210 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9999 1 1.0000 1 1 1.0000 1 1 1 0.9994 1 1 1 hom 2175.71 53 11 111853106 . G GC 2175.71 Mask AC=2;AF=1.00;AN=2;DP=53;FS=0.000;HRun=2;HaplotypeScore=112.7211;MQ=60.03;MQ0=0;QD=41.05;set=variant2 GT:AD:DP:GQ:PL 1/1:1,51:53:99:2218,157,0 11 112064323 112064323 T C exonic BCO2 synonymous SNV BCO2:NM_001256400:exon2:c.T105C:p.I35I,BCO2:NM_001037290:exon3:c.T318C:p.I106I,BCO2:NM_001256397:exon3:c.T318C:p.I106I,BCO2:NM_001256398:exon3:c.T420C:p.I140I,BCO2:NM_031938:exon3:c.T420C:p.I140I 0.0006 . 0.0014 . 0.002 . 0.0012 9.636e-05 0.0008 0 0.0002 0.0019 0.0033 0 0.0024 0.0005 0.0034 . . rs145002872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0002 0.0010 0.0025 0 0.0003 0.0020 0.0009 3.249e-05 0.0011 0.0002 0.0012 0 0 0.0009 0.0018 0.0010 het 667.54 73 11 112064323 . T C 667.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.070;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.82;MQ0=0;MQRankSum=-0.221;QD=9.14;ReadPosRankSum=0.085;VQSLOD=5.1433;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,28:73:99:698,0,1352 11 112065434 112065434 T C exonic BCO2 nonsynonymous SNV BCO2:NM_001256400:exon4:c.T377C:p.L126P,BCO2:NM_001037290:exon5:c.T590C:p.L197P,BCO2:NM_001256397:exon5:c.T590C:p.L197P,BCO2:NM_031938:exon5:c.T692C:p.L231P 0.97 0.95 0.99 1. 0.98 0.95 0.9763 0.9508 0.9895 0.9995 0.9811 0.9812 0.9813 0.9489 0.97 0.95 0.98 0.92 0.96 rs10891338 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.436 0.810 P -2.585 0.000 N -3.49 0.946 D 4.75 0.000 N 0.024 0.241 -0.923 0.452 T 0.000 0.000 T . . . 0.927 0.183 10.24 0.885 0.175 0.045 0.100 N c -1.208 -0.918 0.980 0.300 0.554 0.246 0 4.2 0.486 2.708 0.466 0.069 0.176 0.047 0.211 0.986 0.517 10.406 0.432 . . . 0.9773 0.9495 0.9894 0.9374 0.9997 0.9834 0.9841 0.9773 0.9490 0.9742 0.9511 0.9797 0.9371 0.9994 0.9811 0.9838 0.9735 hom 4076.37 147 11 112065434 . T C 4076.37 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;QD=27.73;VQSLOD=8.3481;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4076,316,0 11 112088499 112088499 A C exonic BCO2 nonsynonymous SNV BCO2:NM_001256398:exon10:c.A1423C:p.I475L,BCO2:NM_001256400:exon11:c.A1327C:p.I443L,BCO2:NM_001037290:exon12:c.A1540C:p.I514L,BCO2:NM_001256397:exon12:c.A1522C:p.I508L,BCO2:NM_031938:exon12:c.A1642C:p.I548L 0.99 0.95 0.99 1. 1. 1. 0.9953 0.9525 0.9953 1 1 0.9996 0.9978 1 0.98 0.95 1. 0.96 0.92 rs2217401 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -2.525 0.001 N -2.58 0.898 D 1.43 0.008 N 0.099 0.381 -0.931 0.440 T 0.000 0.000 T . . . 0.540 0.146 7.726 0.741 0.102 0.104 0.157 N c -1.000 -0.677 0.997 0.353 0.554 0.246 0 5.04 0.672 4.692 0.612 0.067 0.174 1.000 0.715 0.920 0.395 7.527 0.267 . . . 0.9962 0.9524 0.9957 0.9993 1 1 0.9996 0.9969 0.9999 0.9863 0.9525 0.9952 1 1 1 0.9999 0.9959 hom 2233.89 74 11 112088499 . A C 2233.89 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=30.19;VQSLOD=8.7195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2267,172,0 11 113078035 113078035 C T exonic NCAM1 synonymous SNV NCAM1:NM_000615:exon7:c.C681T:p.L227L,NCAM1:NM_001076682:exon7:c.C681T:p.L227L,NCAM1:NM_001242607:exon7:c.C681T:p.L227L,NCAM1:NM_001242608:exon7:c.C681T:p.L227L,NCAM1:NM_181351:exon7:c.C681T:p.L227L 0.0058 0.0008 0.0086 . 0.021 0.001 0.0127 0.005 0.0105 0.0002 0.0039 0.0185 0.0189 0.0050 0.015 0.0049 0.02 . . rs17115154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0124 0.0051 0.0083 0.0287 5.798e-05 0.0035 0.0186 0.0161 0.0053 0.0100 0.0046 0.0036 0.0199 0 0.0023 0.0161 0.0122 het 1488.37 114 11 113078035 . C T 1488.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.571;DP=114;Dels=0.00;FS=2.368;HRun=1;HaplotypeScore=1.9783;MQ=59.27;MQ0=0;MQRankSum=2.007;QD=13.06;ReadPosRankSum=-1.412;VQSLOD=5.5911;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,59:114:99:1518,0,1252 11 113103996 113103996 T G exonic NCAM1 synonymous SNV NCAM1:NM_000615:exon13:c.T1620G:p.V540V,NCAM1:NM_001076682:exon13:c.T1620G:p.V540V,NCAM1:NM_001242608:exon13:c.T1620G:p.V540V,NCAM1:NM_181351:exon14:c.T1650G:p.V550V,NCAM1:NM_001242607:exon15:c.T1728G:p.V576V 0.67 0.91 0.5 0.73 0.51 0.56 0.5610 0.8586 0.4964 0.7323 0.4733 0.5203 0.5170 0.5390 0.64 0.85 0.53 0.7 . rs584427 COSM3752142;COSM3752143;COSM3752144 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5482 0.8618 0.4905 0.4927 0.7365 0.4637 0.5216 0.5235 0.5294 0.6084 0.8579 0.4833 0.5 0.7296 0.4396 0.5068 0.4888 hom 1774.29 53 11 113103996 . T G 1774.29 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;QD=33.48;VQSLOD=10.1972;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1807,144,0 11 113194168 113194168 A C exonic TTC12 nonsynonymous SNV TTC12:NM_001318533:exon3:c.A217C:p.M73L,TTC12:NM_017868:exon3:c.A217C:p.M73L 0.36 0.12 0.4 0.4 0.48 0.49 0.4658 0.1720 0.5120 0.4327 0.4483 0.4990 0.4275 0.5139 0.4 0.19 0.51 0.34 0.44 rs723077 COSM147324 1(stomach);1(prostate) . . . . . . . . . . . 0.961 0.070 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.345 0.112 N 2.64 0.400 T -0.27 0.117 N 0.034 0.281 -0.971 0.370 T 0.000 0.000 T . . . -2.592 0.003 0.001 0.383 0.026 0.039 0.091 N c -1.830 -1.942 1.000 0.427 0.638 0.428 0 -8.61 0.008 -1.104 0.034 -1.096 0.019 0.000 0.063 0.001 0.043 5.394 0.154 . ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000170209.4|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.4686 0.1704 0.5187 0.5203 0.4292 0.4367 0.4999 0.4511 0.4980 0.4013 0.1770 0.4857 0.5331 0.4377 0.4558 0.5025 0.4837 het 851.98 86 11 113194168 . A C 851.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.431;DP=86;Dels=0.00;FS=10.030;HRun=0;HaplotypeScore=0.9995;MQ=59.46;MQ0=0;MQRankSum=0.110;QD=9.91;ReadPosRankSum=-0.384;VQSLOD=4.5915;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,34:86:99:882,0,1334 11 113222885 113222885 A T exonic TTC12 nonsynonymous SNV TTC12:NM_001318533:exon16:c.A1420T:p.M474L,TTC12:NM_017868:exon16:c.A1402T:p.M468L 0.0034 . 0.0043 . 0.0099 0.0041 0.0104 0.0032 0.0076 0 0.0057 0.0155 0.0022 0.0042 0.013 0.0045 0.018 . 0.033 rs35852218 . . . . . . . . . . . . . 0.671 0.058 T 0.0 0.026 B 0.001 0.040 B 0.008 0.309 N 0.819 0.289 N 1.425 0.359 L 1.17 0.379 T -0.18 0.100 N 0.115 0.342 -1.026 0.219 T 0.028 0.121 T . . . -0.886 0.036 0.028 0.337 0.020 0.705 0.343 D c -0.764 -0.701 0.068 0.154 0.706 0.609 0 1.24 0.203 0.628 0.240 1.199 0.960 1.000 0.715 0.013 0.120 11.145 0.475 Armadillo-like helical|Armadillo-type fold;Armadillo-type fold ENSG00000149292.12 Nerve_Tibial 0.0108 0.0031 0.0076 0.0040 0 0.0051 0.0181 0.0117 0.0037 0.0097 0.0031 0.0107 0.0033 0 0.0049 0.0158 0.0092 het 1710.14 165 11 113222885 . A T 1710.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.206;DP=165;Dels=0.00;FS=5.792;HRun=1;HaplotypeScore=0.8941;MQ=59.37;MQ0=0;MQRankSum=-1.268;QD=10.36;ReadPosRankSum=-0.165;VQSLOD=4.4075;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,70:165:99:1740,0,2384 11 113264272 113264272 T C exonic ANKK1 synonymous SNV ANKK1:NM_178510:exon2:c.T255C:p.S85S 0.53 0.35 0.57 0.55 0.68 0.55 0.6098 0.4119 0.4482 0.5621 0.6768 0.6734 0.6433 0.5794 0.6 0.45 0.67 0.47 . rs17115439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6077 0.4098 0.4660 0.6743 0.5648 0.6797 0.6704 0.6239 0.5812 0.5885 0.4126 0.5406 0.6867 0.5755 0.6755 0.6680 0.6585 het 1802.66 102 11 113264272 . T C 1802.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.794;DP=102;Dels=0.00;FS=0.796;HRun=1;HaplotypeScore=2.7834;MQ=58.71;MQ0=0;MQRankSum=2.019;QD=17.67;ReadPosRankSum=-0.449;VQSLOD=5.1663;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,62:102:99:1833,0,1053 11 113264470 113264470 A C exonic ANKK1 synonymous SNV ANKK1:NM_178510:exon2:c.A453C:p.I151I 0.66 0.81 0.61 0.55 0.68 0.59 0.6478 0.7801 0.4657 0.5625 0.6759 0.6758 0.6648 0.6147 0.72 0.79 0.68 0.7 . rs4938013 COSM5437832 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6384 0.7810 0.4857 0.6788 0.5650 0.6815 0.6729 0.6460 0.6078 0.6942 0.7769 0.5649 0.6887 0.5801 0.6755 0.6707 0.6828 het 1065.31 113 11 113264470 . A C 1065.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.256;DP=113;Dels=0.00;FS=9.642;HRun=1;HaplotypeScore=5.7242;MQ=59.34;MQ0=0;MQRankSum=0.634;QD=9.43;ReadPosRankSum=2.509;VQSLOD=3.3888;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,42:113:99:1095,0,1698 11 113268059 113268059 G A exonic ANKK1 nonsynonymous SNV ANKK1:NM_178510:exon6:c.G952A:p.G318R 0.23 0.039 0.3 0.062 0.5 0.31 0.3992 0.1068 0.2214 0.0591 0.4614 0.5166 0.4456 0.3649 0.37 0.12 0.5 0.2 . rs11604671 COSM3720792 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.55 0.066 T 0.0 0.026 B 0.0 0.013 B 0.084 0.024 N 1 0.090 P 0.345 0.112 N -0.79 0.737 T 0.26 0.044 N 0.026 0.008 -0.994 0.315 T 0.000 0.000 T . . . -0.150 0.080 1.388 0.674 0.081 0.039 0.091 N c -1.532 -1.512 0.294 0.191 0.487 0.133 0 0.519 0.162 -1.811 0.018 -2.651 0.002 0.000 0.063 0.000 0.016 2.527 0.044 . ENSG00000170209.4|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12|ENSG00000149292.12|ENSG00000170209.4|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000170209.4|ENSG00000270179.1|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3878 0.0976 0.2293 0.4936 0.0586 0.4539 0.5101 0.4271 0.3623 0.3565 0.1114 0.2673 0.5430 0.0563 0.4546 0.5025 0.4744 het 398.48 36 11 113268059 . G A 398.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.716;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6553;MQ=60.00;MQ0=0;MQRankSum=0.207;QD=11.07;ReadPosRankSum=-1.226;VQSLOD=5.8708;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,16:36:99:428,0,605 11 113270015 113270015 G C exonic ANKK1 nonsynonymous SNV ANKK1:NM_178510:exon8:c.G1324C:p.G442R 0.55 0.43 0.61 0.47 0.68 0.62 0.6625 0.4827 0.6984 0.5025 0.6696 0.7002 0.6541 0.6559 0.62 0.48 0.7 0.54 . rs4938016 COSM428436 1(thyroid) . . . . . . . . . . . 0.514 0.074 T 0.0 0.026 B 0.0 0.013 B 0.003 0.364 N 1 0.090 P 0.16 0.090 N 2.4 0.156 T 3.08 0.001 N 0.07 0.058 -1.003 0.291 T 0.000 0.000 T . . . -0.939 0.034 0.021 0.401 0.028 0.004 0.019 N c -1.345 -1.300 0.378 0.199 0.554 0.283 0 1.82 0.241 -0.236 0.089 -1.155 0.017 0.000 0.063 0.001 0.043 2.025 0.033 Ankyrin repeat-containing domain ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12 Adipose_Subcutaneous|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.6420 0.4397 0.6760 0.6275 0.4562 0.6368 0.6876 0.6474 0.6459 0.6029 0.4503 0.6451 0.6987 0.4448 0.6437 0.6894 0.6853 het 312.57 25 11 113270015 . G C 312.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.354;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.789;QD=12.50;ReadPosRankSum=0.027;VQSLOD=11.4043;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,13:25:99:343,0,307 11 113270160 113270160 A G exonic ANKK1 nonsynonymous SNV ANKK1:NM_178510:exon8:c.A1469G:p.H490R 0.24 0.1 0.31 0.062 0.5 0.31 0.4502 0.1963 0.2785 0.0842 0.4977 0.5451 0.4798 0.3928 0.39 0.16 0.5 0.24 . rs2734849 COSM1741834 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 0.774 0.033 T 0.0 0.026 B 0.003 0.080 B 0.721 0.063 N 1 0.090 P -1.785 0.003 N 2.47 0.148 T 1.41 0.008 N 0.026 0.008 -0.903 0.477 T 0.000 0.000 T . . . -3.445 0.000 0.001 0.183 0.006 0.075 0.134 N c -2.008 -2.024 1.000 0.467 0.516 0.203 0 -9.31 0.005 -0.500 0.064 -0.653 0.041 0.000 0.063 0.003 0.074 17.949 0.889 Ankyrin repeat-containing domain ENSG00000170209.4|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000170209.4|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000170209.4|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000270179.1|ENSG00000149292.12|ENSG00000149292.12|ENSG00000149292.12|ENSG00000170209.4|ENSG00000270179.1|ENSG00000149292.12|ENSG00000170209.4|ENSG00000149292.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3881 0.1493 0.2303 0.4923 0.0565 0.4527 0.5046 0.4288 0.3628 0.3712 0.1635 0.2626 0.5464 0.0568 0.4544 0.5029 0.4755 het 212.34 17 11 113270160 . A G 212.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.780;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;MQRankSum=1.203;QD=12.49;ReadPosRankSum=-1.203;VQSLOD=6.4574;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:242,0,191 11 113270374 113270374 C T exonic ANKK1 synonymous SNV ANKK1:NM_178510:exon8:c.C1683T:p.Y561Y 0.77 0.52 0.85 0.95 0.82 0.81 0.8205 0.6157 0.8904 0.9598 0.8665 0.8135 0.8244 0.8211 0.76 0.63 0.82 0.66 . rs2734848 COSM4145314 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8223 0.5819 0.8861 0.7696 0.9614 0.8558 0.8113 0.8115 0.8193 0.7700 0.5866 0.8923 0.8079 0.9666 0.8588 0.8223 0.8439 het 446.08 27 11 113270374 . C T 446.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.726;DP=27;Dels=0.00;FS=17.374;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.222;QD=16.52;ReadPosRankSum=1.357;VQSLOD=3.2650;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,16:27:99:476,0,248 11 113283459 113283459 G A exonic DRD2 synonymous SNV DRD2:NM_016574:exon6:c.C870T:p.P290P,DRD2:NM_000795:exon7:c.C957T:p.P319P 0.24 0.055 0.33 0.062 0.54 0.32 0.4158 0.1188 0.2413 0.0565 0.4572 0.5448 0.4570 0.3733 0.41 0.14 0.55 0.23 0.4 rs6277 COSM5034229;COSM5034230 1(skin) Benign not_specified RCV000179786.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4131 0.1123 0.2551 0.5389 0.0578 0.4593 0.5444 0.4538 0.3782 0.3762 0.1257 0.2912 0.5861 0.0568 0.4579 0.5307 0.4908 het 907.92 93 11 113283459 . G A 907.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.885;DP=93;Dels=0.00;FS=1.972;HRun=0;HaplotypeScore=2.6927;MQ=58.62;MQ0=0;MQRankSum=0.376;QD=9.76;ReadPosRankSum=-0.505;VQSLOD=5.4083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,38:93:99:938,0,1551 11 113283477 113283477 A G exonic DRD2 synonymous SNV DRD2:NM_016574:exon6:c.T852C:p.H284H,DRD2:NM_000795:exon7:c.T939C:p.H313H 0.53 0.34 0.61 0.47 0.69 0.6 0.6411 0.3737 0.6858 0.4619 0.6704 0.6977 0.6355 0.6318 0.6 0.39 0.7 0.54 0.59 rs6275 . . Benign not_specified RCV000242384.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6453 0.3629 0.6823 0.6459 0.4599 0.6605 0.7006 0.6558 0.6361 0.5926 0.3806 0.6459 0.7053 0.4447 0.6661 0.7025 0.6984 het 905.58 84 11 113283477 . A G 905.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.620;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0208;MQ=58.47;MQ0=0;MQRankSum=-1.346;QD=10.78;ReadPosRankSum=-0.832;VQSLOD=4.6134;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,36:84:99:936,0,1309 11 113561054 113561054 A G exonic TMPRSS5 nonsynonymous SNV TMPRSS5:NM_001288749:exon8:c.T766C:p.F256L,TMPRSS5:NM_001288752:exon9:c.T898C:p.F300L,TMPRSS5:NM_001288750:exon10:c.T973C:p.F325L,TMPRSS5:NM_001288751:exon11:c.T1078C:p.F360L,TMPRSS5:NM_030770:exon11:c.T1105C:p.F369L 0.77 0.96 0.76 0.75 0.64 0.68 0.6959 0.9156 0.7647 0.7253 0.6457 0.6539 0.7210 0.6990 0.74 0.91 0.65 0.84 . rs7110736 COSM4145316;COSM4145315 2(thyroid) . . . . . . . . . . . 0.346 0.146 T 0.0 0.026 B 0.0 0.040 B 0.002 0.374 N 0.998 0.225 P -0.53 0.025 N -2.21 0.870 D 2.33 0.003 N 0.048 0.048 -0.964 0.385 T 0.000 0.000 T . . . 1.406 0.232 12.82 0.843 0.147 0.136 0.177 N c -0.890 -0.677 1.000 0.500 0.554 0.246 0 3.21 0.358 2.593 0.456 0.100 0.199 1.000 0.715 0.994 0.587 6.890 0.233 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000149295.9|ENSG00000149295.9|ENSG00000257101.1 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.6872 0.9229 0.7688 0.7037 0.7159 0.6348 0.6375 0.6865 0.6852 0.7224 0.9185 0.7567 0.6733 0.7024 0.6167 0.6376 0.6653 het 272.11 37 11 113561054 . A G 272.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.383;DP=37;Dels=0.00;FS=3.954;HRun=0;HaplotypeScore=3.1999;MQ=59.38;MQ0=0;MQRankSum=-0.165;QD=7.35;ReadPosRankSum=0.560;VQSLOD=4.8331;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,13:37:99:302,0,685 11 113561057 113561057 A G exonic TMPRSS5 synonymous SNV TMPRSS5:NM_001288749:exon8:c.T763C:p.L255L,TMPRSS5:NM_001288752:exon9:c.T895C:p.L299L,TMPRSS5:NM_001288750:exon10:c.T970C:p.L324L,TMPRSS5:NM_001288751:exon11:c.T1075C:p.L359L,TMPRSS5:NM_030770:exon11:c.T1102C:p.L368L 0.77 0.96 0.76 0.75 0.64 0.68 0.6961 0.9159 0.7656 0.7256 0.6480 0.6536 0.7207 0.6997 0.73 0.91 0.65 0.84 . rs7110738 COSM4145318;COSM4145317 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6876 0.9230 0.7694 0.7042 0.7166 0.6351 0.6379 0.6867 0.6857 0.7225 0.9183 0.7567 0.6733 0.7037 0.6167 0.6379 0.6656 het 338.89 36 11 113561057 . A G 338.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.412;DP=36;Dels=0.00;FS=5.740;HRun=3;HaplotypeScore=2.2013;MQ=59.36;MQ0=0;MQRankSum=-0.763;QD=9.41;ReadPosRankSum=0.795;VQSLOD=4.7198;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,14:36:99:369,0,673 11 113570405 113570405 T C exonic TMPRSS5 synonymous SNV TMPRSS5:NM_001288751:exon3:c.A90G:p.A30A,TMPRSS5:NM_001288752:exon3:c.A117G:p.A39A,TMPRSS5:NM_030770:exon3:c.A117G:p.A39A 0.77 0.97 0.76 0.75 0.64 0.68 0.7316 0.9264 0.8085 0.7717 0.6921 0.6980 0.7535 0.7070 0.74 0.92 0.65 0.87 . rs4936280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6979 0.9291 0.7713 0.7076 0.7220 0.6428 0.6520 0.6930 0.6936 0.7265 0.9228 0.7596 0.6755 0.7066 0.6177 0.6424 0.6697 het 128.43 12 11 113570405 . T C 128.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.76;MQ0=0;MQRankSum=0.000;QD=10.70;ReadPosRankSum=-2.072;VQSLOD=5.4854;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,8:12:96.29:158,0,96 11 113570852 113570852 C T exonic TMPRSS5 synonymous SNV TMPRSS5:NM_001288752:exon2:c.G42A:p.Q14Q,TMPRSS5:NM_030770:exon2:c.G42A:p.Q14Q 0.21 0.11 0.19 0.26 0.25 0.28 0.3431 0.1974 0.3132 0.3762 0.3841 0.3580 0.3760 0.3464 0.2 0.14 0.23 0.25 . rs3802854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2271 0.1311 0.1591 0.2953 0.2466 0.2971 0.2275 0.2441 0.2599 0.2147 0.1418 0.1734 0.2980 0.2301 0.2930 0.2348 0.2613 het 207.69 17 11 113570852 . C T 207.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.048;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;MQRankSum=0.625;QD=12.22;ReadPosRankSum=0.914;VQSLOD=7.0000;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:238,0,204 11 113670052 113670052 T A exonic USP28 synonymous SNV USP28:NM_001346268:exon21:c.A2145T:p.T715T,USP28:NM_001301029:exon22:c.A2673T:p.T891T,USP28:NM_001346259:exon23:c.A2970T:p.T990T,USP28:NM_001346260:exon23:c.A2772T:p.T924T,USP28:NM_001346261:exon23:c.A2769T:p.T923T,USP28:NM_001346262:exon23:c.A2673T:p.T891T,USP28:NM_001346267:exon23:c.A2145T:p.T715T,USP28:NM_001346272:exon23:c.A1992T:p.T664T,USP28:NM_001346257:exon24:c.A3066T:p.T1022T,USP28:NM_001346258:exon24:c.A3048T:p.T1016T,USP28:NM_001346264:exon24:c.A2331T:p.T777T,USP28:NM_001346269:exon24:c.A2088T:p.T696T,USP28:NM_001346253:exon25:c.A3252T:p.T1084T,USP28:NM_001346254:exon25:c.A3147T:p.T1049T,USP28:NM_001346263:exon25:c.A2469T:p.T823T,USP28:NM_020886:exon25:c.A3144T:p.T1048T,USP28:NM_001346252:exon26:c.A3330T:p.T1110T,USP28:NM_001346255:exon26:c.A3135T:p.T1045T,USP28:NM_001346271:exon26:c.A2088T:p.T696T,USP28:NM_001346265:exon27:c.A2274T:p.T758T,USP28:NM_001346270:exon27:c.A2088T:p.T696T 0.97 0.89 0.99 1. 1. 1. 0.9903 0.8953 0.9954 1 1 0.9997 0.9934 0.9997 0.97 0.9 1. 0.96 0.98 rs2459971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9922 0.8901 0.9947 1 1 1 0.9997 0.9967 0.9997 0.9675 0.8868 0.9928 1 1 1 0.9998 0.9878 hom 2959.96 93 11 113670052 . T A 2959.96 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.00;MQ0=0;QD=31.83;VQSLOD=9.7116;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2993,238,0 11 113679119 113679119 C T exonic USP28 synonymous SNV USP28:NM_001346268:exon14:c.G1206A:p.S402S,USP28:NM_001301029:exon16:c.G1830A:p.S610S,USP28:NM_001346260:exon16:c.G1833A:p.S611S,USP28:NM_001346261:exon16:c.G1830A:p.S610S,USP28:NM_001346264:exon16:c.G1206A:p.S402S,USP28:NM_001346267:exon16:c.G1206A:p.S402S,USP28:NM_001346253:exon17:c.G2127A:p.S709S,USP28:NM_001346257:exon17:c.G2127A:p.S709S,USP28:NM_001346259:exon17:c.G2127A:p.S709S,USP28:NM_001346262:exon17:c.G1830A:p.S610S,USP28:NM_001346263:exon17:c.G1344A:p.S448S,USP28:NM_001346269:exon17:c.G1149A:p.S383S,USP28:NM_001346272:exon17:c.G1149A:p.S383S,USP28:NM_001346252:exon18:c.G2205A:p.S735S,USP28:NM_001346254:exon18:c.G2208A:p.S736S,USP28:NM_001346258:exon18:c.G2205A:p.S735S,USP28:NM_020886:exon18:c.G2205A:p.S735S,USP28:NM_001346255:exon19:c.G2196A:p.S732S,USP28:NM_001346265:exon19:c.G1149A:p.S383S,USP28:NM_001346271:exon19:c.G1149A:p.S383S,USP28:NM_001346270:exon20:c.G1149A:p.S383S 0.79 0.63 0.85 0.87 0.84 0.82 0.8182 0.6544 0.9046 0.8935 0.8285 0.8181 0.7974 0.8184 0.76 0.66 0.82 0.73 0.77 rs2465647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8231 0.6462 0.8972 0.7464 0.8947 0.8326 0.8198 0.8197 0.8202 0.7841 0.6489 0.8747 0.7947 0.9110 0.8411 0.8284 0.8147 hom 6856.08 210 11 113679119 . C T 6856.08 Mask AC=2;AF=1.00;AN=2;DP=210;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9258;MQ=59.78;MQ0=0;QD=32.65;VQSLOD=9.0213;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,210:210:99:6855,545,0 11 113698002 113698002 C T exonic USP28 synonymous SNV USP28:NM_001346268:exon7:c.G141A:p.E47E,USP28:NM_001301029:exon9:c.G765A:p.E255E,USP28:NM_001346260:exon9:c.G768A:p.E256E,USP28:NM_001346261:exon9:c.G765A:p.E255E,USP28:NM_001346264:exon9:c.G141A:p.E47E,USP28:NM_001346267:exon9:c.G141A:p.E47E,USP28:NM_001346253:exon10:c.G1062A:p.E354E,USP28:NM_001346257:exon10:c.G1062A:p.E354E,USP28:NM_001346259:exon10:c.G1062A:p.E354E,USP28:NM_001346262:exon10:c.G765A:p.E255E,USP28:NM_001346263:exon10:c.G279A:p.E93E,USP28:NM_001346269:exon10:c.G84A:p.E28E,USP28:NM_001346272:exon10:c.G84A:p.E28E,USP28:NM_001346252:exon11:c.G1140A:p.E380E,USP28:NM_001346254:exon11:c.G1143A:p.E381E,USP28:NM_001346258:exon11:c.G1140A:p.E380E,USP28:NM_001346273:exon11:c.G1140A:p.E380E,USP28:NM_020886:exon11:c.G1140A:p.E380E,USP28:NM_001346255:exon12:c.G1131A:p.E377E,USP28:NM_001346265:exon12:c.G84A:p.E28E,USP28:NM_001346271:exon12:c.G84A:p.E28E,USP28:NM_001346270:exon13:c.G84A:p.E28E 0.096 0.067 0.055 0.14 0.12 0.092 0.1079 0.0767 0.0489 0.1342 0.1295 0.1207 0.1449 0.0925 0.1 0.077 0.12 0.065 0.098 rs17802314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1065 0.0764 0.0571 0.1176 0.1327 0.1328 0.1193 0.1115 0.0907 0.1051 0.0791 0.0718 0.1133 0.1418 0.1303 0.1131 0.0890 het 679.06 54 11 113698002 . C T 679.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.145;DP=54;Dels=0.00;FS=1.050;HRun=4;HaplotypeScore=1.9692;MQ=59.54;MQ0=0;MQRankSum=0.052;QD=12.58;ReadPosRankSum=-0.399;VQSLOD=6.8572;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,25:54:99:709,0,797 11 113803028 113803028 A C exonic HTR3B nonsynonymous SNV HTR3B:NM_006028:exon5:c.A386C:p.Y129S 0.35 0.46 0.41 0.18 0.31 0.4 0.3372 0.4364 0.3581 0.1706 0.2970 0.3231 0.3252 0.4215 0.36 0.43 0.32 0.42 0.3 rs1176744 COSM5826896;COSM3752147 8(soft_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.466 N 0.999 0.214 P -3.235 0.000 N -1.05 0.767 T 4.29 0.000 N 0.324 0.385 -0.942 0.424 T 0.000 0.000 T . . . -0.318 0.067 0.604 0.262 0.012 0.064 0.122 N c -1.058 -0.813 0.960 0.284 0.447 0.083 0 4.64 0.572 5.016 0.636 0.067 0.174 1.000 0.715 0.723 0.315 8.903 0.345 Neurotransmitter-gated ion-channel ligand-binding domain . . 0.3335 0.4361 0.3553 0.3369 0.1617 0.3060 0.3214 0.3375 0.4172 0.3425 0.4331 0.3437 0.3826 0.1502 0.2848 0.3251 0.3143 het 4287.61 250 11 113803028 . A C 4287.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.364;DP=250;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.8024;MQ=59.01;MQ0=0;MQRankSum=0.535;QD=17.15;ReadPosRankSum=0.992;VQSLOD=4.7162;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,140:250:99:3703,0,2599 11 114393652 114393652 C T exonic NXPE1 nonsynonymous SNV NXPE1:NM_152315:exon5:c.G631A:p.G211R 0.37 0.25 0.31 0.67 0.34 0.31 0.3598 0.2621 0.3584 0.6728 0.3853 0.3424 0.3709 0.3176 0.32 0.27 0.34 0.35 0.36 rs10891692 COSM5002013;COSM1179754 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(prostate) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.629 D 0.002 0.441 P 3.165 0.888 M -0.73 0.731 T -8.0 0.965 D 0.344 0.593 -0.857 0.515 T 0.000 0.000 T . . . 7.118 0.942 34 0.999 0.994 0.964 0.686 D c 0.859 0.755 0.998 0.358 0.487 0.133 0 4.46 0.534 6.011 0.702 0.852 0.362 1.000 0.715 1.000 0.888 15.419 0.746 . ENSG00000095110.3|ENSG00000095110.3 Colon_Transverse|Testis 0.3614 0.2579 0.3552 0.3423 0.6763 0.3890 0.3384 0.3480 0.3155 0.3515 0.2548 0.3233 0.3278 0.6819 0.4126 0.3574 0.3938 hom 2027.34 64 11 114393652 . C T 2027.34 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.25;MQ0=0;QD=31.68;VQSLOD=9.2667;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2060,160,0 11 114441943 114441943 G A exonic NXPE4 nonsynonymous SNV NXPE4:NM_001077639:exon6:c.C1352T:p.A451V,NXPE4:NM_017678:exon6:c.C500T:p.A167V 0.36 0.21 0.3 0.67 0.33 0.31 0.3567 0.2337 0.3558 0.6784 0.3867 0.3409 0.3611 0.3140 0.31 0.24 0.34 0.34 0.37 rs10891705 COSM3998238 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.371 0.146 T 0.175 0.272 B 0.246 0.371 B 0.230 0.159 N 0.977 0.253 P 1.2 0.304 L 2.06 0.205 T -1.35 0.387 N 0.024 0.007 -0.996 0.309 T 0.000 0.000 T . . . 1.673 0.262 14.25 0.858 0.156 0.068 0.127 N c -0.914 -0.867 0.000 0.012 0.497 0.185 0 -0.856 0.101 0.150 0.160 -1.080 0.019 0.000 0.063 0.964 0.448 6.391 0.207 Immunoglobulin E-set ENSG00000095110.3|ENSG00000095110.3 Colon_Transverse|Testis 0.3581 0.2311 0.3516 0.3302 0.6817 0.3893 0.3373 0.3437 0.3115 0.3444 0.2307 0.3194 0.3146 0.6895 0.4126 0.3567 0.3908 hom 4954.77 165 11 114441943 . G A 4954.77 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6208;MQ=59.44;MQ0=0;QD=30.03;VQSLOD=8.9924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:165:99:4954,409,0 11 114442103 114442103 A G exonic NXPE4 nonsynonymous SNV NXPE4:NM_001077639:exon6:c.T1192C:p.Y398H,NXPE4:NM_017678:exon6:c.T340C:p.Y114H 0.65 0.91 0.56 0.67 0.47 0.55 0.5404 0.8432 0.5929 0.6831 0.4868 0.4733 0.5644 0.5408 0.6 0.84 0.49 0.79 0.5 rs550897 COSM3998239 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -2.705 0.000 N 2.82 0.109 T 5.25 0.000 N 0.093 0.092 -0.977 0.356 T 0.000 0.000 T . . . 0.427 0.135 6.848 0.160 0.004 0.010 0.037 N c -1.132 -0.805 0.000 0.052 0.549 0.223 0 4.54 0.551 3.433 0.523 0.138 0.222 0.997 0.399 0.740 0.319 11.299 0.483 Immunoglobulin E-set . . 0.5388 0.8496 0.5803 0.5381 0.6854 0.4906 0.4695 0.5246 0.5409 0.6031 0.8370 0.5468 0.5762 0.6885 0.5175 0.4850 0.5483 hom 8895.54 248 11 114442103 . A G 8895.54 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1153;MQ=59.20;MQ0=0;QD=35.87;VQSLOD=7.2259;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8895,698,0 11 116633825 116633825 C T exonic BUD13 synonymous SNV BUD13:NM_001159736:exon4:c.G480A:p.P160P,BUD13:NM_032725:exon4:c.G480A:p.P160P 0.55 0.68 0.6 0.38 0.48 0.56 0.5179 0.6311 0.5916 0.4375 0.5534 0.4871 0.5453 0.5459 0.53 0.62 0.48 0.47 0.48 rs918144 COSM3752152 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5210 0.6358 0.5984 0.4923 0.4286 0.5568 0.4866 0.5220 0.5383 0.5492 0.6419 0.5815 0.54 0.4309 0.5693 0.4998 0.5629 het 2764.35 229 11 116633825 . C T 2764.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.767;DP=229;Dels=0.00;FS=2.274;HRun=0;HaplotypeScore=14.1485;MQ=58.37;MQ0=1;MQRankSum=-0.625;QD=12.02;ReadPosRankSum=-0.584;VQSLOD=2.2199;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,102:229:99:2794,0,3323 11 116633947 116633947 G A exonic BUD13 nonsynonymous SNV BUD13:NM_001159736:exon4:c.C358T:p.R120C,BUD13:NM_032725:exon4:c.C358T:p.R120C 0.049 0.0015 0.11 0.068 0.06 0.044 0.0641 0.0120 0.1348 0.0739 0.0596 0.0616 0.0564 0.0442 0.04 0.011 0.054 0.022 0.041 rs10488698 COSM3998242 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.136 0.346 T 0.011 0.147 B 0.002 0.063 B 0.352 0.042 N 1.000 0.182 P 1.475 0.372 L 2.03 0.210 T -3.72 0.707 D 0.027 0.009 -1.044 0.162 T 0.001 0.004 T . . . 1.620 0.256 13.96 0.824 0.137 0.044 0.099 N c -0.727 -0.712 0.986 0.309 0.707 0.730 0 3.9 0.441 1.007 0.293 0.953 0.551 0.001 0.137 0.016 0.126 9.983 0.408 . . . 0.0640 0.0110 0.1241 0.0393 0.0729 0.0600 0.0613 0.0688 0.0419 0.0469 0.0125 0.1280 0.0563 0.0655 0.0575 0.0567 0.0602 het 1668.72 189 11 116633947 . G A 1668.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.665;DP=189;DS;Dels=0.00;FS=3.037;HRun=4;HaplotypeScore=4.9455;MQ=59.43;MQ0=0;MQRankSum=-0.492;QD=8.83;ReadPosRankSum=-0.423;VQSLOD=4.8142;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:123,66:189:99:1699,0,3419 11 116692334 116692334 C T exonic APOA4 nonsynonymous SNV APOA4:NM_000482:exon3:c.G440A:p.S147N 0.76 0.89 0.76 0.64 0.83 0.64 0.8089 0.8861 0.7603 0.6759 0.7667 0.8623 0.7829 0.6665 0.87 0.88 0.87 0.74 0.88 rs5104 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.992 0.080 N 1 0.090 P . . . -0.63 0.720 T 0.87 0.017 N 0.004 0.000 -1.020 0.235 T 0.000 0.000 T . . . -2.589 0.003 0.001 0.214 0.008 0.005 0.023 N c -1.411 -1.602 1.000 0.489 0.554 0.283 0 -7.01 0.014 -1.231 0.030 -0.909 0.026 0.000 0.063 0.004 0.083 9.137 0.359 . ENSG00000254851.1|ENSG00000254851.1|ENSG00000254851.1|ENSG00000160613.8|ENSG00000254851.1|ENSG00000254851.1|ENSG00000160613.8|ENSG00000254851.1|ENSG00000168092.9|ENSG00000254851.1|ENSG00000254851.1|ENSG00000160613.8|ENSG00000254851.1|ENSG00000254851.1|ENSG00000254851.1|ENSG00000160613.8|ENSG00000254851.1|ENSG00000254851.1|ENSG00000149577.11|ENSG00000254851.1|ENSG00000254851.1|ENSG00000254851.1|ENSG00000254851.1|ENSG00000254851.1|ENSG00000254851.1|ENSG00000254851.1|ENSG00000236267.1|ENSG00000254851.1|ENSG00000254851.1|ENSG00000149577.11|ENSG00000254851.1|ENSG00000149591.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood 0.8035 0.8862 0.7580 0.8032 0.6727 0.7682 0.8688 0.8176 0.675 0.8375 0.8835 0.7811 0.7483 0.6796 0.7590 0.8528 0.8108 hom 2917.93 83 11 116692334 . C T 2917.93 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.16;VQSLOD=13.7897;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2951,241,0 11 116693464 116693464 C T exonic APOA4 synonymous SNV APOA4:NM_000482:exon2:c.G87A:p.T29T 0.72 0.86 0.72 0.58 0.8 0.59 0.7738 0.8512 0.7455 0.6233 0.7328 0.8281 0.7335 0.6228 0.84 0.85 0.83 0.75 0.86 rs5092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7702 0.8525 0.7423 0.7759 0.6242 0.7316 0.8343 0.7862 0.6327 0.8029 0.8525 0.7685 0.7384 0.6343 0.7282 0.8145 0.7781 hom 6660.25 190 11 116693464 . C T 6660.25 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3980;MQ=59.42;MQ0=0;QD=35.05;VQSLOD=6.4322;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:6660,530,0 11 116701535 116701535 T C exonic APOC3 synonymous SNV APOC3:NM_000040:exon3:c.T102C:p.G34G 0.6 0.72 0.57 0.4 0.7 0.55 0.6542 0.7322 0.5024 0.3968 0.6325 0.7275 0.6354 0.5602 0.74 0.74 0.74 0.67 0.75 rs4520 COSM4145339 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6471 0.7338 0.5087 0.7050 0.3991 0.6321 0.7356 0.6639 0.5632 0.6899 0.7303 0.5601 0.6589 0.4356 0.6282 0.7191 0.6451 hom 1566.57 55 11 116701535 . T C 1566.57 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.58;MQ0=0;QD=28.48;VQSLOD=7.8627;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1600,123,0 11 117074109 117074109 G A exonic TAGLN synonymous SNV TAGLN:NM_001001522:exon3:c.G267A:p.K89K,TAGLN:NM_003186:exon3:c.G267A:p.K89K 0.074 0.051 0.06 0.082 0.071 0.11 0.0704 0.0469 0.0478 0.1046 0.0782 0.0659 0.0694 0.0979 0.053 0.041 0.059 0.043 0.082 rs12970 COSM3998245 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0686 0.0420 0.0434 0.0930 0.1016 0.0770 0.0632 0.0787 0.0944 0.0600 0.0403 0.0467 0.0762 0.0895 0.0805 0.0626 0.0796 het 1872.26 149 11 117074109 . G A 1872.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.684;DP=149;Dels=0.00;FS=0.614;HRun=2;HaplotypeScore=1.5592;MQ=59.09;MQ0=0;MQRankSum=1.469;QD=12.57;ReadPosRankSum=1.340;VQSLOD=5.9877;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,71:149:99:1902,0,2269 11 117096652 117096652 G A exonic PCSK7 synonymous SNV PCSK7:NM_004716:exon6:c.C855T:p.S285S 0.25 0.34 0.27 0.15 0.19 0.28 0.2517 0.3109 0.3321 0.1806 0.2914 0.2261 0.2720 0.2816 0.24 0.3 0.21 0.18 0.23 rs2277287 COSM3998247 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2502 0.3123 0.3202 0.2810 0.1731 0.2815 0.2156 0.2510 0.2790 0.2502 0.3054 0.3082 0.2748 0.1473 0.2978 0.2130 0.2746 het 1876.96 126 11 117096652 . G A 1876.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.778;DP=126;Dels=0.00;FS=2.722;HRun=1;HaplotypeScore=3.8853;MQ=59.15;MQ0=0;MQRankSum=0.032;QD=14.90;ReadPosRankSum=-0.331;VQSLOD=5.9771;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,70:126:99:1907,0,1534 11 117160347 117160347 A G exonic BACE1 nonsynonymous SNV BACE1:NM_001207048:exon8:c.T1141C:p.C381R,BACE1:NM_001207049:exon8:c.T1066C:p.C356R,BACE1:NM_012104:exon9:c.T1441C:p.C481R,BACE1:NM_138971:exon9:c.T1309C:p.C437R,BACE1:NM_138972:exon9:c.T1366C:p.C456R,BACE1:NM_138973:exon9:c.T1234C:p.C412R 1. 1. 1. 1. 1. 1. 0.9997 1 1 1 1 0.9994 1 0.9999 1. 1. 1. 1. 1. rs539765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 1 0.9998 0.9915 1 1 0.9999 0.9996 0.9999 0.9998 1 1 0.9868 1 1 0.9999 1 hom 4593.73 156 11 117160347 . A G 4593.73 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7234;MQ=59.56;MQ0=0;QD=29.45;VQSLOD=6.7613;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4592,403,0 11 117163824 117163824 C G exonic BACE1 synonymous SNV BACE1:NM_001207048:exon4:c.G486C:p.V162V,BACE1:NM_001207049:exon4:c.G411C:p.V137V,BACE1:NM_012104:exon5:c.G786C:p.V262V,BACE1:NM_138971:exon5:c.G654C:p.V218V,BACE1:NM_138972:exon5:c.G711C:p.V237V,BACE1:NM_138973:exon5:c.G579C:p.V193V 0.55 0.54 0.55 0.65 0.41 0.63 0.4821 0.5252 0.6472 0.6597 0.4412 0.3994 0.4736 0.5972 0.44 0.52 0.4 0.53 0.44 rs638405 COSM3752154 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4868 0.5288 0.6301 0.4493 0.6608 0.4413 0.3932 0.4763 0.5987 0.4557 0.5215 0.5825 0.4437 0.6700 0.4390 0.3914 0.4571 het 3091.45 217 11 117163824 . C G 3091.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.993;DP=217;DS;Dels=0.00;FS=2.790;HRun=0;HaplotypeScore=5.4419;MQ=58.98;MQ0=0;MQRankSum=0.495;QD=14.25;ReadPosRankSum=-0.974;VQSLOD=4.3923;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,107:217:99:3121,0,3022 11 117267884 117267884 A G exonic CEP164 nonsynonymous SNV CEP164:NM_001271933:exon26:c.A3365G:p.Q1122R,CEP164:NM_014956:exon27:c.A3356G:p.Q1119R 0.46 0.53 0.34 0.38 0.54 0.47 0.4852 0.5290 0.2276 0.3328 0.5311 0.5415 0.4845 0.4720 0.53 0.51 0.54 0.49 0.49 rs573455 COSM4145356 1(thyroid) Benign not_specified RCV000243054.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.340 0.140 N 1 0.090 P -0.45 0.028 N 2.24 0.179 T 1.23 0.010 N 0.018 0.044 -0.949 0.412 T 0.000 0.000 T . . . -2.260 0.005 0.001 0.094 0.001 0.002 0.011 N c -1.897 -1.852 0.137 0.172 0.707 0.730 0 -1.69 0.077 -0.631 0.056 -1.619 0.009 0.001 0.137 0.057 0.169 10.301 0.426 . . . 0.4729 0.5290 0.2415 0.4920 0.3345 0.5318 0.5435 0.4611 0.4729 0.5261 0.5296 0.3138 0.5397 0.3042 0.5243 0.5611 0.5071 het 1310.19 130 11 117267884 . A G 1310.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.340;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8309;MQ=59.14;MQ0=0;MQRankSum=0.834;QD=10.08;ReadPosRankSum=-0.377;VQSLOD=6.2297;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,55:130:99:1340,0,1987 11 117282800 117282800 G T exonic CEP164 synonymous SNV CEP164:NM_001271933:exon32:c.G4284T:p.S1428S,CEP164:NM_014956:exon33:c.G4299T:p.S1433S 0.91 0.96 0.93 0.83 0.97 0.85 0.9383 0.9642 0.8811 0.8438 0.9802 0.9682 0.9626 0.8726 0.96 0.96 0.97 0.92 0.94 rs522885 . . Benign not_specified RCV000251466.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9361 0.9614 0.8886 0.9290 0.8404 0.9795 0.9702 0.9455 0.8740 0.9601 0.9600 0.8935 0.9238 0.8278 0.9802 0.9745 0.9552 hom 5070.18 158 11 117282800 . G T 5070.18 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5200;MQ=59.01;MQ0=0;QD=32.09;VQSLOD=8.7639;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5070,388,0 11 117335722 117335722 T C exonic DSCAML1 synonymous SNV DSCAML1:NM_020693:exon17:c.A3381G:p.Q1127Q 0.74 0.86 0.68 0.9 0.5 0.69 0.6144 0.7971 0.7567 0.9015 0.5548 0.5172 0.5971 0.6665 0.62 0.79 0.52 0.8 0.59 rs538847 COSM4145359 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6158 0.8064 0.7416 0.5008 0.9012 0.5528 0.5185 0.5804 0.6650 0.6330 0.8077 0.7249 0.5199 0.8817 0.5481 0.5258 0.5656 het 1763.02 132 11 117335722 . T C 1763.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DP=132;Dels=0.00;FS=10.560;HRun=1;HaplotypeScore=1.9895;MQ=58.90;MQ0=0;MQRankSum=-0.848;QD=13.36;ReadPosRankSum=0.447;VQSLOD=4.5497;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,64:132:99:1793,0,1874 11 117781435 117781435 A G exonic TMPRSS13 synonymous SNV TMPRSS13:NM_001206789:exon6:c.T828C:p.S276S,TMPRSS13:NM_001077263:exon7:c.T933C:p.S311S,TMPRSS13:NM_001206790:exon7:c.T933C:p.S311S,TMPRSS13:NM_001244995:exon7:c.T933C:p.S311S 0.92 0.93 0.95 0.88 0.97 0.87 0.9435 0.9394 0.9364 0.8812 0.9479 0.9688 0.9380 0.8801 0.96 0.94 0.97 0.92 0.99 rs2155194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9430 0.9387 0.9382 0.9790 0.8796 0.9475 0.9682 0.9604 0.8770 0.9532 0.9414 0.9499 0.9702 0.8850 0.9519 0.9680 0.9479 hom 1068.23 34 11 117781435 . A G 1068.23 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=31.42;VQSLOD=9.6941;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:84.27:1101,84,0 11 117864047 117864047 A G exonic IL10RA synonymous SNV IL10RA:NM_001558:exon4:c.A459G:p.A153A 0.52 0.46 0.57 0.55 0.51 0.54 0.5273 0.4599 0.6176 0.6144 0.4443 0.5197 0.5110 0.5262 0.5 0.47 0.52 0.47 0.51 rs2256111 COSM3752159 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Inflammatory_bowel_disease|not_specified RCV000297163.1|RCV000454846.1 MedGen:SNOMED_CT|MedGen C0021390:24526004|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5325 0.4552 0.6187 0.5692 0.6158 0.4465 0.5187 0.5385 0.5294 0.5016 0.4515 0.6277 0.5728 0.6340 0.4330 0.5224 0.5235 het 1901 153 11 117864047 . A G 1901 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.131;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7284;MQ=58.99;MQ0=0;MQRankSum=0.820;QD=12.42;ReadPosRankSum=0.588;VQSLOD=5.9028;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,75:153:99:1931,0,2106 11 117869670 117869670 A G exonic IL10RA nonsynonymous SNV IL10RA:NM_001558:exon7:c.A1051G:p.R351G 0.81 0.82 0.81 0.99 0.68 0.74 0.7381 0.8047 0.8710 0.9956 0.6271 0.6823 0.7206 0.7391 0.73 0.81 0.69 0.8 0.7 rs2229113 COSM3752160 1(large_intestine) Benign|Benign Inflammatory_bowel_disease|not_specified RCV000283667.1|RCV000455516.1 MedGen:SNOMED_CT|MedGen C0021390:24526004|CN169374 . . . . . . 0.676 0.045 T 0.0 0.026 B 0.0 0.013 B 0.077 0.023 N 1 0.090 P -1.74 0.003 N 1.77 0.258 T 0.57 0.026 N 0.007 0.195 -1.002 0.292 T 0.000 0.000 T . . . -0.231 0.074 0.945 0.618 0.066 0.008 0.031 N c -1.438 -1.339 1.000 0.517 0.731 0.878 0 1.13 0.197 0.051 0.139 -0.708 0.037 0.000 0.063 0.000 0.016 5.621 0.166 . ENSG00000110324.5 Artery_Tibial 0.7416 0.8049 0.8656 0.7326 0.9967 0.6240 0.6818 0.7367 0.7370 0.7348 0.7935 0.8529 0.7318 0.9969 0.6215 0.6941 0.7027 het 1057.50 85 11 117869670 . A G 1057.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.010;DP=85;Dels=0.00;FS=4.763;HRun=3;HaplotypeScore=0.9987;MQ=59.46;MQ0=0;MQRankSum=1.051;QD=12.44;ReadPosRankSum=-1.693;VQSLOD=5.4196;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,41:85:99:1087,0,1205 11 117869878 117869878 C T exonic IL10RA nonsynonymous SNV IL10RA:NM_001558:exon7:c.C1259T:p.S420L 0.017 0.0015 0.053 . 0.043 0.002 0.0319 0.0084 0.0267 0 0.0135 0.0488 0.0344 0.0060 0.036 0.011 0.049 0.022 0.016 rs2229114 . . Likely benign Inflammatory_bowel_disease RCV000379319.1 MedGen:SNOMED_CT C0021390:24526004 . . . . . . 0.072 0.349 T 0.588 0.371 P 0.103 0.294 B 0.752 0.065 N 1 0.090 N 1.61 0.413 L 1.4 0.336 T -1.64 0.393 N 0.03 0.068 -1.025 0.221 T 0.011 0.040 T . . . 1.475 0.240 13.18 0.989 0.472 0.133 0.176 N c -0.545 -0.635 1.000 0.420 0.646 0.442 0 1.82 0.241 0.738 0.256 0.065 0.171 0.000 0.063 0.011 0.114 2.383 0.041 . . . 0.0321 0.0067 0.0300 0.0472 0 0.0164 0.0495 0.0403 0.0067 0.0304 0.0111 0.0239 0.0430 0 0.0209 0.0473 0.0305 het 748.39 46 11 117869878 . C T 748.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.727;DP=46;Dels=0.00;FS=2.695;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=1.103;QD=16.27;ReadPosRankSum=0.860;VQSLOD=5.8231;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,25:46:99:778,0,530 11 117982495 117982495 T G exonic TMPRSS4 nonsynonymous SNV TMPRSS4:NM_001173552:exon7:c.T503G:p.V168G,TMPRSS4:NM_001083947:exon8:c.T608G:p.V203G,TMPRSS4:NM_001173551:exon8:c.T617G:p.V206G,TMPRSS4:NM_001290094:exon8:c.T548G:p.V183G,TMPRSS4:NM_001290096:exon8:c.T182G:p.V61G,TMPRSS4:NM_019894:exon8:c.T623G:p.V208G 0.98 0.99 0.97 0.99 0.97 0.97 0.9647 0.9852 0.9787 0.9917 0.9576 0.9566 0.9592 0.9640 0.97 0.99 0.96 0.98 0.98 rs1941635 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.411 0.324 P -3.15 0.000 N 1.73 0.264 T 7.79 0.000 N 0.06 0.480 -0.968 0.376 T 0.000 0.000 T . . . -0.824 0.039 0.038 0.124 0.002 0.014 0.047 N c -1.321 -1.050 0.902 0.261 0.487 0.094 0 3.94 0.446 5.967 0.699 0.123 0.211 1.000 0.715 0.040 0.157 7.201 0.249 Peptidase S1\x2c PA clan;Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain;SRCR-like domain . . 0.9644 0.9862 0.9760 0.9672 0.9908 0.9533 0.9566 0.9619 0.9633 0.9675 0.9850 0.9809 0.9636 0.9877 0.9564 0.9577 0.9592 het 1577.87 99 11 117982495 . T G 1577.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.558;DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4512;MQ=59.77;MQ0=0;MQRankSum=-0.494;QD=15.94;ReadPosRankSum=1.002;VQSLOD=5.2861;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,56:99:99:1608,0,1144 11 117988082 117988082 T C exonic TMPRSS4 synonymous SNV TMPRSS4:NM_001173552:exon11:c.T1095C:p.S365S,TMPRSS4:NM_001083947:exon12:c.T1200C:p.S400S,TMPRSS4:NM_001173551:exon12:c.T1209C:p.S403S,TMPRSS4:NM_001290094:exon12:c.T1140C:p.S380S,TMPRSS4:NM_001290096:exon12:c.T774C:p.S258S,TMPRSS4:NM_019894:exon12:c.T1215C:p.S405S 0.78 0.9 0.92 0.57 0.91 0.62 0.8491 0.8915 0.8862 0.5749 0.9244 0.9123 0.8612 0.6533 0.91 0.9 0.91 0.8 0.94 rs642215 COSM3998252 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8540 0.8913 0.8965 0.8846 0.5775 0.9215 0.9152 0.8798 0.6587 0.8935 0.8866 0.9260 0.9106 0.6025 0.9236 0.9201 0.8857 het 4383.56 247 11 117988082 . T C 4383.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.923;DP=247;Dels=0.00;FS=8.045;HRun=0;HaplotypeScore=6.4061;MQ=59.38;MQ0=0;MQRankSum=0.933;QD=17.75;ReadPosRankSum=-2.095;VQSLOD=2.5315;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,133:247:99:3757,0,2874 11 118074337 118074337 A G exonic JAML nonsynonymous SNV JAML:NM_001286570:exon5:c.T461C:p.V154A,JAML:NM_001286571:exon5:c.T461C:p.V154A,JAML:NM_153206:exon5:c.T548C:p.V183A,JAML:NM_001098526:exon6:c.T578C:p.V193A 0.8 0.93 0.8 0.67 0.74 0.84 0.7723 0.9034 0.7801 0.6789 0.7491 0.7518 0.7368 0.8273 0.81 0.9 0.76 0.88 0.71 rs1793174 COSM147331;COSM3927693 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(pancreas);3(prostate);1(thyroid) . . . . . . . . . . . 0.77 0.034 T 0.0 0.176 B 0.003 0.193 B 0.108 0.026 N 1 0.090 P 1.61 0.413 L -0.07 0.638 T -0.48 0.183 N 0.025 0.010 -0.902 0.478 T 0.000 0.000 T . . . -3.546 0.000 0.001 0.244 0.011 0.007 0.028 N c -2.504 -2.657 1.000 0.747 0.554 0.283 0 -8.32 0.009 -1.037 0.036 -2.331 0.003 0.000 0.063 0.000 0.016 1.487 0.023 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000160593.13|ENSG00000160593.13|ENSG00000160588.5|ENSG00000160593.13|ENSG00000160588.5|ENSG00000149573.4|ENSG00000160588.5 Adrenal_Gland|Artery_Tibial|Lung|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7683 0.9079 0.7705 0.7931 0.6766 0.7427 0.7497 0.7532 0.8285 0.7806 0.9047 0.7649 0.7848 0.6873 0.7315 0.7344 0.7223 het 2500.79 158 11 118074337 . A G 2500.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.274;DP=158;DS;Dels=0.00;FS=0.673;HRun=0;HaplotypeScore=3.5282;MQ=59.35;MQ0=0;MQRankSum=-1.662;QD=15.83;ReadPosRankSum=0.564;VQSLOD=5.3190;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,89:158:99:2531,0,1857 11 118081345 118081345 A T exonic JAML nonsynonymous SNV JAML:NM_001286570:exon3:c.T164A:p.I55N,JAML:NM_001286571:exon3:c.T164A:p.I55N,JAML:NM_153206:exon3:c.T251A:p.I84N,JAML:NM_001098526:exon4:c.T281A:p.I94N 0.47 0.13 0.49 0.54 0.53 0.77 0.5370 0.1955 0.4536 0.5314 0.5348 0.5599 0.5165 0.7227 0.45 0.2 0.57 0.37 0.54 rs17121881 COSM3927694;COSM147332 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 0.06 0.373 T 0.237 0.637 B 0.1 0.541 B 0.405 0.131 N 1 0.090 P 2.915 0.845 M -0.11 0.645 T -3.53 0.825 D 0.262 0.319 -0.894 0.486 T 0.000 0.000 T . . . 3.875 0.523 23.5 0.700 0.089 0.094 0.150 N c -0.274 -0.413 1.000 0.500 0.554 0.283 0 3.98 0.452 1.859 0.388 0.237 0.263 0.003 0.159 0.004 0.083 7.889 0.287 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000160593.13|ENSG00000160593.13|ENSG00000160588.5|ENSG00000160588.5|ENSG00000160593.13|ENSG00000160588.5|ENSG00000149573.4|ENSG00000160588.5|ENSG00000160588.5|ENSG00000160588.5|ENSG00000149573.4 Adrenal_Gland|Artery_Tibial|Esophagus_Mucosa|Lung|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood|Whole_Blood 0.5369 0.1884 0.4492 0.5263 0.5352 0.5233 0.5650 0.5192 0.7213 0.4431 0.1958 0.4472 0.5464 0.5328 0.5261 0.5525 0.4929 het 4283.35 237 11 118081345 . A T 4283.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.234;DP=237;Dels=0.00;FS=3.788;HRun=1;HaplotypeScore=3.4020;MQ=59.56;MQ0=0;MQRankSum=1.029;QD=18.07;ReadPosRankSum=1.006;VQSLOD=4.9219;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,140:237:99:3696,0,2385 11 118107805 118107805 A G exonic MPZL3 synonymous SNV MPZL3:NM_001286152:exon3:c.T375C:p.H125H,MPZL3:NM_198275:exon3:c.T411C:p.H137H 0.8 0.94 0.78 0.69 0.73 0.84 0.7579 0.9024 0.7429 0.6895 0.7334 0.7315 0.7280 0.8314 0.79 0.9 0.74 0.87 0.72 rs1793140 COSM147333 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7542 0.9077 0.7338 0.8065 0.6919 0.7291 0.7287 0.7379 0.8318 0.7687 0.9006 0.7273 0.8 0.6960 0.7183 0.7171 0.7086 het 2220.19 176 11 118107805 . A G 2220.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.624;DP=176;Dels=0.00;FS=5.894;HRun=1;HaplotypeScore=5.6962;MQ=59.60;MQ0=0;MQRankSum=0.819;QD=12.61;ReadPosRankSum=1.816;VQSLOD=4.4507;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,88:176:99:2250,0,2306 11 118110977 118110977 T C exonic MPZL3 synonymous SNV MPZL3:NM_001286152:exon2:c.A153G:p.K51K,MPZL3:NM_198275:exon2:c.A189G:p.K63K 0.79 0.92 0.77 0.68 0.71 0.83 0.7470 0.8922 0.7382 0.6794 0.7166 0.7216 0.7192 0.8130 0.79 0.89 0.73 0.86 0.72 rs2853006 COSM147334 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7428 0.8973 0.7313 0.7825 0.6828 0.7122 0.7189 0.7270 0.8136 0.7574 0.8906 0.7255 0.7748 0.6832 0.7022 0.7061 0.6969 het 2006.83 151 11 118110977 . T C 2006.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.741;DP=151;Dels=0.00;FS=0.609;HRun=0;HaplotypeScore=2.3204;MQ=58.91;MQ0=0;MQRankSum=-0.095;QD=13.29;ReadPosRankSum=-0.404;VQSLOD=6.5732;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,76:151:99:2037,0,1843 11 118221349 118221349 T C exonic CD3G synonymous SNV CD3G:NM_000073:exon4:c.T390C:p.A130A 0.3 0.16 0.11 0.51 0.18 0.51 0.2189 0.1597 0.0925 0.4878 0.1833 0.1606 0.2390 0.4533 0.0025 0.0027 0.0024 . 0.18 rs3753059 COSM3998253 1(haematopoietic_and_lymphoid_tissue) Likely benign|Benign Immunodeficiency_due_to_defect_in_CD3-gamma|not_specified RCV000288417.1|RCV000454974.1 MedGen|MedGen C1861297|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2156 0.1592 0.0906 0.2316 0.4998 0.1869 0.1559 0.2050 0.4545 0.1728 0.1548 0.1074 0.2252 0.4723 0.1791 0.1518 0.1835 het 2237.73 181 11 118221349 . T C 2237.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.805;DP=181;Dels=0.00;FS=0.555;HRun=1;HaplotypeScore=2.8224;MQ=59.64;MQ0=0;MQRankSum=1.205;QD=12.36;ReadPosRankSum=-0.635;VQSLOD=6.0977;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:100,81:181:99:2268,0,2902 11 118221350 118221350 G T exonic CD3G nonsynonymous SNV CD3G:NM_000073:exon4:c.G391T:p.V131F 0.3 0.16 0.11 0.51 0.18 0.51 0.2189 0.1597 0.0925 0.4874 0.1833 0.1606 0.2390 0.4536 0.0044 0.0043 0.0044 . 0.18 rs3753058 COSM3931231 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) Likely benign|Benign Immunodeficiency_due_to_defect_in_CD3-gamma|not_specified RCV000352643.1|RCV000455537.1 MedGen|MedGen C1861297|CN169374 . . . . . . 0.004 0.654 D 0.986 0.596 D 0.669 0.512 P 0.008 0.313 N 0.468 0.588 P 2.595 0.761 M -0.03 0.631 T -2.89 0.606 D 0.71 0.712 -0.961 0.391 T 0.000 0.000 T . . . 5.368 0.727 25.9 0.995 0.699 0.573 0.301 D c 0.245 0.194 1.000 0.462 0.487 0.094 0 1.63 0.228 0.224 0.174 0.034 0.151 0.998 0.411 0.998 0.697 9.204 0.362 . . . 0.2155 0.1592 0.0906 0.2316 0.4997 0.1869 0.1559 0.2050 0.4545 0.1723 0.1543 0.1074 0.2252 0.4717 0.1792 0.1511 0.1817 het 2298.90 181 11 118221350 . G T 2298.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.341;DP=181;Dels=0.00;FS=0.548;HRun=2;HaplotypeScore=2.8224;MQ=59.64;MQ0=0;MQRankSum=-0.896;QD=12.70;ReadPosRankSum=-0.939;VQSLOD=5.8382;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,82:181:99:2329,0,2890 11 118509668 118509668 A G exonic PHLDB1 synonymous SNV PHLDB1:NM_001144758:exon11:c.A2595G:p.E865E,PHLDB1:NM_001144759:exon11:c.A2595G:p.E865E,PHLDB1:NM_015157:exon12:c.A2595G:p.E865E 0.57 0.48 0.71 0.66 0.54 0.56 0.5861 0.4757 0.7805 0.7131 0.5684 0.5629 0.5734 0.5520 0.53 0.47 0.55 0.58 0.51 rs483598 COSM4145369 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5903 0.4641 0.7688 0.5768 0.7107 0.5631 0.5554 0.5689 0.5439 0.5565 0.4735 0.7279 0.5298 0.7123 0.5628 0.5754 0.5867 hom 1031.70 31 11 118509668 . A G 1031.70 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.28;VQSLOD=14.4111;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:84.25:1065,84,0 11 118514625 118514625 C T exonic PHLDB1 synonymous SNV PHLDB1:NM_001144759:exon13:c.C2844T:p.S948S,PHLDB1:NM_001144758:exon14:c.C2985T:p.S995S,PHLDB1:NM_015157:exon15:c.C2985T:p.S995S 0.22 0.11 0.21 0.23 0.22 0.37 0.2342 0.1238 0.2128 0.2418 0.2274 0.2248 0.2447 0.3655 0.18 0.12 0.22 0.21 0.11 rs11216938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2318 0.1200 0.2091 0.2014 0.2490 0.2215 0.2255 0.2254 0.3447 0.1994 0.1196 0.2050 0.1722 0.2528 0.2288 0.2320 0.2253 het 754.74 42 11 118514625 . C T 754.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.630;DP=42;Dels=0.00;FS=2.807;HRun=0;HaplotypeScore=1.7882;MQ=59.45;MQ0=0;MQRankSum=0.014;QD=17.97;ReadPosRankSum=0.686;VQSLOD=5.8224;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,28:42:99:785,0,313 11 118529017 118529017 T G exonic TREH unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 0.9998 1 1.0000 1 0.9999 . . . 0.96 . rs6589669 COSM4590113;COSM4590114 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 1 1 0.9997 1 0.9999 0.9998 1.0000 1.0000 1 1 1 0.9994 1 1 1 hom 462.53 14 11 118529017 . T G 462.53 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=33.04;VQSLOD=8.5927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:496,39,0 11 118529044 118529044 - G exonic TREH unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9998 0.9997 1 0.9995 1 0.9999 1 0.9998 . . . 0.96 . rs11448549 COSM5713212;COSM5713211 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9998 0.9999 0.9999 0.9993 1 0.9999 1 0.9999 0.9998 0.9997 1 1 0.9994 1 0.9999 1 hom 821.38 19 11 118529044 . C CG 821.38 Mask AC=2;AF=1.00;AN=2;DP=19;FS=0.000;HRun=0;HaplotypeScore=163.5739;MQ=58.78;MQ0=0;QD=43.23;set=variant2 GT:AD:DP:GQ:PL 1/1:1,18:19:54.18:863,54,0 11 118529069 118529069 G C exonic TREH unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 0.9999 1 1 1 1 . . . 1. . rs6589670 COSM4590679;COSM4590678 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 643.19 22 11 118529069 . G C 643.19 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=29.24;VQSLOD=7.8989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:54.16:676,54,0 11 118529078 118529078 G C exonic TREH unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 0.9999 0.9999 0.9999 1 1.0000 1 1 . . . 0.99 . rs6589671 COSM4590676;COSM4590675 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 686.87 21 11 118529078 . G C 686.87 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=32.71;VQSLOD=8.1375;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.18:720,57,0 11 118529127 118529127 G A exonic TREH unknown UNKNOWN 0.22 0.11 0.21 0.23 0.21 0.37 0.2431 0.1349 0.2236 0.2495 0.2531 0.2311 0.2603 0.3580 0.18 0.12 0.22 0.21 . rs7928371 COSM5505076;COSM5505075 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2306 0.1195 0.2093 0.1994 0.2485 0.2203 0.2242 0.2205 0.3406 0.1999 0.1191 0.2057 0.1722 0.2534 0.2288 0.2329 0.2270 het 245.49 27 11 118529127 . G A 245.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.147;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.14;MQ0=0;MQRankSum=0.567;QD=9.09;ReadPosRankSum=-0.025;VQSLOD=5.9932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:275,0,391 11 118534082 118534082 C T exonic TREH unknown UNKNOWN 0.2 0.032 0.2 0.23 0.21 0.37 0.3077 0.0841 0.3430 0.3420 0.2990 0.3064 0.288 0.3806 0.16 0.058 0.21 0.17 . rs10790256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2213 0.0486 0.2012 0.1969 0.2448 0.2170 0.2181 0.2136 0.3393 0.1814 0.0544 0.2029 0.1722 0.2525 0.2290 0.2327 0.2255 het 140.17 14 11 118534082 . C T 140.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.817;QD=10.01;ReadPosRankSum=1.670;VQSLOD=6.1804;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,9:14:99:170,0,104 11 118765108 118765108 G A exonic CXCR5 synonymous SNV CXCR5:NM_032966:exon1:c.G720A:p.A240A,CXCR5:NM_001716:exon2:c.G855A:p.A285A 0.001 . 0.0014 . 0.004 . 0.0042 0.0008 0.0020 0 0.0095 0.0062 0.0077 6.058e-05 0.003 0.0007 0.0042 . . rs113967672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0007 0.0015 0.0001 0 0.0079 0.0053 0.0038 6.498e-05 0.0033 0.0003 0 0 0 0.0066 0.0049 0.0020 het 2283.91 168 11 118765108 . G A 2283.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.096;DP=168;Dels=0.00;FS=1.302;HRun=1;HaplotypeScore=6.2338;MQ=58.78;MQ0=0;MQRankSum=1.301;QD=13.59;ReadPosRankSum=1.727;VQSLOD=3.9357;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,85:168:99:2314,0,2031 11 118828942 118828942 A G exonic UPK2 synonymous SNV UPK2:NM_006760:exon5:c.A554G:p.X185X 0.24 0.38 0.14 0.095 0.17 0.35 0.1946 0.3754 0.1124 0.0966 0.2389 0.1585 0.2007 0.3182 0.23 0.38 0.16 0.35 0.14 rs623500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1828 0.3708 0.1098 0.0623 0.0980 0.2337 0.1607 0.1533 0.3037 0.2155 0.3594 0.1223 0.0497 0.0910 0.2335 0.1511 0.1916 het 550.25 37 11 118828942 . A G 550.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.204;DP=37;Dels=0.00;FS=3.350;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.229;QD=14.87;ReadPosRankSum=1.021;VQSLOD=5.9911;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,20:37:99:580,0,466 11 118919206 118919206 T C exonic HYOU1 synonymous SNV HYOU1:NM_001130991:exon19:c.A2235G:p.A745A,HYOU1:NM_006389:exon19:c.A2235G:p.A745A 0.8 0.67 0.62 0.95 0.84 0.93 0.8172 0.6664 0.5289 0.9531 0.8226 0.8447 0.8480 0.9279 0.79 0.68 0.85 0.74 0.8 rs568922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8086 0.6603 0.5486 0.8695 0.9549 0.8178 0.8450 0.8097 0.9250 0.7903 0.6775 0.5897 0.8833 0.9530 0.8149 0.8390 0.8327 het 2410.34 202 11 118919206 . T C 2410.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.890;DP=202;Dels=0.00;FS=3.185;HRun=0;HaplotypeScore=10.2498;MQ=59.00;MQ0=0;MQRankSum=1.067;QD=11.93;ReadPosRankSum=1.353;VQSLOD=4.1235;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,96:202:99:2440,0,2735 11 118922200 118922200 G A exonic HYOU1 synonymous SNV HYOU1:NM_001130991:exon13:c.C1476T:p.N492N,HYOU1:NM_006389:exon13:c.C1476T:p.N492N 0.16 0.079 0.056 0.3 0.11 0.26 0.1356 0.0620 0.0651 0.3341 0.1244 0.1105 0.1630 0.2321 0.086 0.061 0.099 0.11 0.16 rs1804690 COSM4417600;COSM4417599 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1300 0.0604 0.0664 0.0761 0.3306 0.1213 0.1068 0.1235 0.2306 0.0989 0.0569 0.0656 0.09 0.3236 0.1237 0.0929 0.1365 het 1893.72 141 11 118922200 . G A 1893.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.984;DP=141;Dels=0.00;FS=3.018;HRun=2;HaplotypeScore=5.3197;MQ=59.21;MQ0=0;MQRankSum=-0.435;QD=13.43;ReadPosRankSum=-2.444;VQSLOD=4.2076;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,72:141:99:1924,0,1904 11 118925341 118925341 G A exonic HYOU1 synonymous SNV HYOU1:NM_001130991:exon7:c.C543T:p.N181N,HYOU1:NM_006389:exon7:c.C543T:p.N181N 0.43 0.19 0.3 0.72 0.48 0.51 0.4452 0.2279 0.2583 0.7609 0.5290 0.4493 0.5011 0.4944 0.37 0.23 0.44 0.29 0.43 rs538478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4440 0.2208 0.2737 0.4262 0.7582 0.5409 0.4465 0.4332 0.4941 0.4014 0.2199 0.2943 0.4669 0.7516 0.5404 0.4387 0.4470 het 935.75 95 11 118925341 . G A 935.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.493;DP=95;Dels=0.00;FS=1.711;HRun=0;HaplotypeScore=0.9894;MQ=59.61;MQ0=0;MQRankSum=-1.419;QD=9.85;ReadPosRankSum=0.501;VQSLOD=6.0525;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,40:95:99:966,0,1551 11 118939939 118939939 - C exonic VPS11 unknown UNKNOWN . . . . . . 0.9955 1 0.9775 0.9819 0.9911 0.9994 0.9955 0.9990 1. 1. 1. . . rs5795166 COSM5713219 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9999 0.9769 1 0.9823 0.9912 0.9996 0.9963 0.9987 0.9967 0.9997 0.9714 1 0.9852 0.9905 0.9991 0.9959 hom 9629.55 237 11 118939939 . T TC 9629.55 Mask AC=2;AF=1.00;AN=2;DP=237;DS;FS=0.000;HRun=2;HaplotypeScore=492.0123;MQ=60.63;MQ0=0;QD=40.63;set=variant2 GT:AD:DP:GQ:PL 1/1:10,227:237:99:9630,677,0 11 118947634 118947634 C T exonic VPS11 unknown UNKNOWN 0.43 0.2 0.3 0.72 0.48 0.49 0.4448 0.2462 0.2595 0.7591 0.5287 0.4466 0.5102 0.4805 0.37 0.24 0.43 0.32 . rs540261 COSM4145383 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4409 0.2384 0.2727 0.4245 0.7579 0.5397 0.4423 0.4305 0.4779 0.4029 0.2329 0.3002 0.4636 0.7506 0.5384 0.4348 0.4398 het 636.19 59 11 118947634 . C T 636.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.743;DP=59;Dels=0.00;FS=2.286;HRun=0;HaplotypeScore=1.9889;MQ=59.61;MQ0=0;MQRankSum=0.790;QD=10.78;ReadPosRankSum=-0.915;VQSLOD=6.5595;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,26:59:99:666,0,907 11 118967758 118967758 T C exonic DPAGT1 nonsynonymous SNV DPAGT1:NM_001382:exon9:c.A1177G:p.I393V 0.43 0.28 0.3 0.63 0.46 0.5 0.4215 0.2912 0.2454 0.6466 0.3795 0.4323 0.4284 0.4815 0.39 0.3 0.43 0.36 0.51 rs643788 . . Benign|Benign|Benign not_specified|Acute_intermittent_porphyria|Congenital_disorder_of_glycosylation RCV000079665.7|RCV000277995.1|RCV000354528.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0162565:176000:ORPHA79276:234422006|C0282577:ORPHA137:238049009 . . . . . . 0.554 0.065 T 0.0 0.026 B 0.002 0.063 B 0.880 0.088 N 1 0.090 P -0.17 0.043 N -2.78 0.910 D -0.36 0.131 N 0.023 0.018 -0.977 0.358 T 0.000 0.000 T . . . -3.223 0.001 0.001 0.381 0.025 0.026 0.071 N c -1.987 -1.970 1.000 0.480 0.707 0.730 0 -4.23 0.035 -0.573 0.059 -0.936 0.025 0.000 0.063 0.470 0.266 2.110 0.034 . ENSG00000248712.3|ENSG00000172273.8|ENSG00000172273.8|ENSG00000172273.8|ENSG00000172273.8|ENSG00000172273.8|ENSG00000172273.8|ENSG00000172273.8|ENSG00000172273.8|ENSG00000172273.8|ENSG00000172273.8|ENSG00000256269.2|ENSG00000172273.8|ENSG00000172375.8|ENSG00000172273.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4181 0.2948 0.2550 0.5748 0.6392 0.3859 0.4244 0.4235 0.4826 0.3851 0.2929 0.2799 0.5132 0.6623 0.3931 0.4078 0.4235 het 1044.84 115 11 118967758 . T C 1044.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.130;DP=115;Dels=0.00;FS=3.836;HRun=0;HaplotypeScore=3.9199;MQ=60.00;MQ0=0;MQRankSum=-0.552;QD=9.09;ReadPosRankSum=-0.943;VQSLOD=4.6711;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,41:115:99:1075,0,2014 11 119005088 119005088 C T exonic HINFP synonymous SNV HINFP:NM_198971:exon10:c.C1434T:p.I478I,HINFP:NM_015517:exon11:c.C1434T:p.I478I 0.99 1. 0.99 1. 0.96 0.99 0.9735 0.9938 0.9900 1 0.9667 0.9613 0.9725 0.9875 0.97 0.99 0.96 0.99 0.95 rs512703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9730 0.9950 0.9874 0.9622 0.9999 0.9654 0.9599 0.9732 0.9871 0.9755 0.9940 0.9893 0.9636 1 0.9648 0.9640 0.9745 hom 2693.94 90 11 119005088 . C T 2693.94 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8634;MQ=58.91;MQ0=0;QD=29.93;VQSLOD=8.4564;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:90:99:2727,211,0 11 119005132 119005132 C T exonic HINFP nonsynonymous SNV HINFP:NM_198971:exon10:c.C1478T:p.A493V,HINFP:NM_015517:exon11:c.C1478T:p.A493V 0.4 0.17 0.28 0.72 0.44 0.43 0.4159 0.1928 0.2622 0.7525 0.4747 0.4237 0.4768 0.4280 0.34 0.19 0.42 0.3 0.48 rs100803 . . . . . . . . . . . . . 0.868 0.026 T 0.0 0.026 B 0.001 0.040 B 0.548 0.053 N 1 0.090 P 0.425 0.126 N 2.91 0.100 T -0.21 0.103 N 0.083 0.104 -1.018 0.244 T 0.000 0.000 T . . . 0.563 0.148 7.899 0.612 0.065 0.040 0.093 N c -1.206 -1.212 0.997 0.354 0.713 0.817 0 -0.697 0.107 0.036 0.136 -0.965 0.023 0.006 0.172 0.001 0.043 2.468 0.042 . ENSG00000248712.3|ENSG00000172273.8|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000160703.11|ENSG00000256269.2|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000172273.8|ENSG00000172273.8|ENSG00000256269.2|ENSG00000172375.8|ENSG00000172273.8|ENSG00000256269.2|ENSG00000172273.8|ENSG00000172367.11|ENSG00000172375.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4140 0.1914 0.2666 0.4963 0.7481 0.4771 0.4138 0.4150 0.4270 0.3661 0.1898 0.2816 0.4768 0.7423 0.4742 0.4015 0.4255 het 935.73 66 11 119005132 . C T 935.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.106;DP=66;Dels=0.00;FS=1.185;HRun=0;HaplotypeScore=0.9967;MQ=58.73;MQ0=0;MQRankSum=-0.759;QD=14.18;ReadPosRankSum=-2.523;VQSLOD=4.1743;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,38:66:99:966,0,861 11 119043656 119043656 C T exonic NLRX1 nonsynonymous SNV NLRX1:NM_001282143:exon4:c.C187T:p.P63S,NLRX1:NM_001282144:exon4:c.C187T:p.P63S,NLRX1:NM_001282358:exon4:c.C187T:p.P63S,NLRX1:NM_024618:exon4:c.C187T:p.P63S 0.68 0.69 0.4 0.88 0.55 0.8 0.5742 0.6715 0.3377 0.8851 0.5242 0.5197 0.5940 0.7553 0.57 0.65 0.52 0.66 0.58 rs643423 COSM4999056;COSM4999057 1(pancreas) . . . . . . . . . . . 0.873 0.030 T 0.005 0.119 B 0.002 0.063 B 0.777 0.066 N 1 0.090 P -0.425 0.029 N 1.67 0.697 T 1.39 0.021 N 0.044 0.327 -0.992 0.322 T 0.000 0.000 T . . . -2.235 0.005 0.001 0.491 0.041 0.015 0.050 N c -1.845 -1.846 1.000 0.747 0.651 0.465 0 -4.75 0.030 -2.220 0.013 -0.934 0.025 0.000 0.063 0.000 0.016 11.945 0.520 . ENSG00000248712.3|ENSG00000172273.8|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000110395.4|ENSG00000248712.3|ENSG00000245385.2|ENSG00000173456.4|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000256269.2|ENSG00000172273.8|ENSG00000172367.11|ENSG00000172375.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5635 0.6744 0.3469 0.6417 0.8811 0.5318 0.5122 0.5373 0.7552 0.5658 0.6600 0.3840 0.6457 0.8890 0.5327 0.4938 0.5433 het 1597.67 123 11 119043656 . C T 1597.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.694;DP=123;Dels=0.00;FS=4.427;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;MQRankSum=-0.752;QD=12.99;ReadPosRankSum=1.188;VQSLOD=4.8695;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,65:123:99:1628,0,1539 11 119052826 119052826 C A exonic NLRX1 nonsynonymous SNV NLRX1:NM_001282143:exon9:c.C2378A:p.A793E,NLRX1:NM_001282144:exon9:c.C2378A:p.A793E,NLRX1:NM_001282358:exon9:c.C2378A:p.A793E,NLRX1:NM_024618:exon9:c.C2378A:p.A793E 0.69 0.71 0.42 0.88 0.55 0.8 0.5754 0.6914 0.3369 0.8854 0.5209 0.5190 0.5978 0.7548 0.57 0.68 0.52 0.72 0.57 rs4245191 COSM4145389;COSM4145388 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.014 0.156 B 0.02 0.179 B 0.001 0.405 N 1.000 0.182 P -0.125 0.045 N 0.7 0.515 T 1.93 0.006 N 0.086 0.184 -0.956 0.400 T 0.000 0.000 T . . . 1.856 0.284 15.32 0.525 0.047 0.357 0.251 N c -0.926 -0.812 0.984 0.306 0.635 0.413 0 2.91 0.328 2.571 0.454 0.054 0.162 0.980 0.350 0.010 0.111 6.556 0.215 Leucine-rich repeat domain\x2c L domain-like ENSG00000248712.3|ENSG00000172273.8|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000110395.4|ENSG00000245385.2|ENSG00000173456.4|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000172367.11|ENSG00000172273.8|ENSG00000248712.3|ENSG00000256269.2|ENSG00000172367.11|ENSG00000172375.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5637 0.6901 0.3463 0.6418 0.8802 0.5282 0.5108 0.5385 0.7543 0.5696 0.6801 0.3831 0.6457 0.8863 0.5304 0.4906 0.5502 het 2751.58 231 11 119052826 . C A 2751.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.598;DP=231;DS;Dels=0.00;FS=2.498;HRun=0;HaplotypeScore=4.2995;MQ=59.12;MQ0=0;MQRankSum=-1.476;QD=11.91;ReadPosRankSum=0.540;VQSLOD=5.1133;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:132,99:231:99:2782,0,3542 11 119059404 119059404 G A exonic PDZD3 nonsynonymous SNV PDZD3:NM_001168468:exon9:c.G1115A:p.R372Q,PDZD3:NM_024791:exon9:c.G1073A:p.R358Q 0.66 0.6 0.43 0.88 0.57 0.8 0.5810 0.6035 0.3378 0.8810 0.5252 0.5408 0.5993 0.7640 0.56 0.59 0.54 0.66 0.61 rs1815811 COSM4145391;COSM4145390 1(pancreas);1(thyroid) . . . . . . . . . . . 0.884 0.025 T 0.0 0.090 B 0.0 0.013 B 0.536 0.053 N 1 0.090 P -2.505 0.001 N 1.61 0.729 T 0.86 0.022 N 0.021 0.019 -1.006 0.280 T 0.000 0.000 T . . . -0.417 0.060 0.351 0.525 0.047 0.001 0.005 N c -1.533 -1.492 0.000 0.069 0.497 0.185 0 -1.83 0.074 -0.370 0.075 0.117 0.209 0.000 0.063 0.001 0.043 6.357 0.205 PDZ domain ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000110395.4|ENSG00000245385.2|ENSG00000173456.4|ENSG00000248712.3|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172273.8|ENSG00000172273.8|ENSG00000248712.3|ENSG00000172367.11|ENSG00000172375.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.5711 0.5986 0.3485 0.6547 0.8774 0.5322 0.5354 0.5474 0.7641 0.5631 0.5951 0.3828 0.6533 0.8813 0.5350 0.5248 0.5626 het 1700.25 130 11 119059404 . G A 1700.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.633;DP=130;Dels=0.00;FS=1.484;HRun=0;HaplotypeScore=2.6203;MQ=58.73;MQ0=0;MQRankSum=1.370;QD=13.08;ReadPosRankSum=0.626;VQSLOD=6.2888;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,69:130:99:1730,0,1372 11 119063908 119063908 C T exonic CCDC153 nonsynonymous SNV CCDC153:NM_001145018:exon5:c.G302A:p.R101H 0.24 0.26 0.21 0.35 0.25 0.14 0.2323 0.2668 0.1497 0.3868 0.2283 0.2413 0.2456 0.1520 0.25 0.26 0.25 0.33 0.28 rs2301574 COSM147337;COSM3752172 1(stomach);2(large_intestine) . . . . . . . . . . . 0.369 0.116 T 0.025 0.179 B 0.006 0.112 B 0.158 0.177 N 1 0.090 P 1.07 0.272 L 1.58 0.291 T -1.37 0.340 N 0.039 0.021 -0.903 0.477 T 0.000 0.000 T . . . 0.778 0.168 9.330 0.571 0.056 0.016 0.050 N c -1.213 -1.229 0.737 0.231 0.615 0.372 0 -0.122 0.128 -0.855 0.044 -2.528 0.003 0.000 0.063 0.000 0.016 7.593 0.270 . ENSG00000248712.3|ENSG00000160695.10|ENSG00000076706.10|ENSG00000110395.4|ENSG00000256269.2|ENSG00000173456.4|ENSG00000256269.2|ENSG00000172367.11 Adipose_Subcutaneous|Adrenal_Gland|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Thyroid|Whole_Blood 0.2320 0.2649 0.1576 0.3158 0.3805 0.2297 0.2412 0.2344 0.1544 0.2501 0.2577 0.1814 0.3079 0.3733 0.2308 0.2409 0.2311 het 1755.17 138 11 119063908 . C T 1755.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.625;DP=138;Dels=0.00;FS=6.345;HRun=0;HaplotypeScore=3.8247;MQ=59.32;MQ0=0;MQRankSum=0.211;QD=12.72;ReadPosRankSum=-0.632;VQSLOD=5.1237;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,70:138:99:1785,0,1743 11 119181170 119181170 T C exonic MCAM synonymous SNV MCAM:NM_006500:exon15:c.A1800G:p.L600L 0.75 0.77 0.77 0.66 0.71 0.84 0.7404 0.7439 0.8577 0.6442 0.7077 0.7147 0.7203 0.8247 0.73 0.75 0.71 0.78 0.69 rs2249466 COSM1162429 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7418 0.7469 0.8491 0.6293 0.6427 0.7094 0.7181 0.7225 0.8262 0.7160 0.7421 0.8282 0.6424 0.6151 0.7088 0.7069 0.7403 hom 5674.46 179 11 119181170 . T C 5674.46 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0250;MQ=59.03;MQ0=0;QD=31.70;VQSLOD=5.8406;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5674,436,0 11 119206375 119206375 G A exonic RNF26 synonymous SNV RNF26:NM_032015:exon1:c.G543A:p.T181T 0.73 0.74 0.73 0.66 0.66 0.83 0.7202 0.7181 0.8532 0.6430 0.7111 0.6878 0.7020 0.8041 0.69 0.71 0.68 0.78 0.66 rs2511841 COSM3752177 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7201 0.7137 0.8374 0.5957 0.6412 0.7083 0.6887 0.7076 0.8038 0.7011 0.7044 0.7998 0.6060 0.6186 0.7210 0.6969 0.7459 hom 4175.52 124 11 119206375 . G A 4175.52 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4771;MQ=59.27;MQ0=0;QD=33.67;VQSLOD=9.3574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:4175,328,0 11 119216231 119216231 A G exonic MFRP synonymous SNV MFRP:NM_031433:exon5:c.T540C:p.H180H 0.9 0.84 0.87 0.88 0.95 0.98 0.9364 0.8780 0.8580 0.8715 0.9389 0.9588 0.9369 0.9704 0.93 0.87 0.96 0.88 0.91 rs2510143 COSM4145393 1(thyroid) Benign|Likely benign|Benign not_specified|Retinal_degeneration|Microphthalmia\x2c_isolated_6 RCV000153496.3|RCV000276256.1|RCV000311491.1 MedGen:OMIM C3150757:613517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9321 0.8727 0.8584 0.9184 0.8697 0.9379 0.9622 0.9294 0.9712 0.9254 0.8733 0.8556 0.9404 0.8580 0.9418 0.9613 0.9481 hom 2913.71 94 11 119216231 . A G 2913.71 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.60;MQ0=0;QD=31.00;VQSLOD=8.9276;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2947,241,0 11 119216504 119216504 C T exonic MFRP nonsynonymous SNV MFRP:NM_031433:exon4:c.G406A:p.V136M 0.18 0.039 0.17 0.2 0.34 0.21 0.2664 0.0899 0.1551 0.1926 0.3155 0.3285 0.2859 0.2201 0.25 0.098 0.32 0.13 0.33 rs3814762 . . Benign|Likely benign|Likely benign not_specified|Microphthalmia\x2c_isolated_6|Retinal_degeneration RCV000153499.5|RCV000279501.1|RCV000374001.1 . . . . . . . . 1.0 0.010 T 0.079 0.230 B 0.009 0.133 B 0.132 0.186 N 1 0.090 P -1.09 0.010 N -0.34 0.685 T 0.76 0.070 N 0.027 0.047 -0.994 0.315 T 0.000 0.000 T . . . -0.485 0.056 0.239 0.856 0.155 0.002 0.014 N c -1.641 -1.647 0.009 0.118 0.497 0.185 0 -3.06 0.050 -2.455 0.011 -0.665 0.040 0.000 0.063 0.901 0.381 6.357 0.205 . . . 0.2656 0.0837 0.1636 0.3038 0.1981 0.3117 0.3315 0.2881 0.2238 0.2461 0.0879 0.1933 0.3477 0.1888 0.3135 0.3280 0.2735 het 2022.74 170 11 119216504 . C T 2022.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.525;DP=170;Dels=0.00;FS=2.746;HRun=0;HaplotypeScore=3.8587;MQ=58.44;MQ0=0;MQRankSum=0.605;QD=11.90;ReadPosRankSum=-1.483;VQSLOD=5.3257;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,78:170:99:2053,0,2229 11 119229964 119229964 G A exonic USP2 synonymous SNV USP2:NM_001243759:exon4:c.C309T:p.Y103Y,USP2:NM_171997:exon4:c.C411T:p.Y137Y,USP2:NM_004205:exon5:c.C1038T:p.Y346Y 0.71 0.56 0.64 0.86 0.72 0.78 0.7144 0.5591 0.6361 0.8375 0.7666 0.7203 0.7268 0.7569 0.66 0.57 0.71 0.63 0.73 rs2241646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7117 0.5593 0.6202 0.6663 0.8434 0.7580 0.7214 0.7133 0.7592 0.6770 0.5529 0.6074 0.6854 0.8449 0.7709 0.7103 0.7147 het 776.48 56 11 119229964 . G A 776.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.126;DP=56;Dels=0.00;FS=2.350;HRun=0;HaplotypeScore=0.0000;MQ=57.78;MQ0=0;MQRankSum=1.549;QD=13.87;ReadPosRankSum=-0.577;VQSLOD=4.7622;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,31:56:99:806,0,630 11 119244095 119244095 C T exonic USP2 synonymous SNV USP2:NM_004205:exon2:c.G96A:p.P32P 0.65 0.52 0.61 0.84 0.63 0.7 0.6270 0.5353 0.6665 0.8051 0.5818 0.6046 0.6334 0.6715 0.58 0.54 0.6 0.65 0.53 rs587985 COSM3752178 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6286 0.5309 0.6574 0.5678 0.8094 0.5742 0.6083 0.6379 0.6694 0.5905 0.5256 0.6671 0.5762 0.8189 0.5771 0.6028 0.5845 het 490.57 47 11 119244095 . C T 490.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.560;DP=47;Dels=0.00;FS=2.954;HRun=0;HaplotypeScore=2.7312;MQ=59.51;MQ0=0;MQRankSum=-0.226;QD=10.44;ReadPosRankSum=-2.679;VQSLOD=4.7326;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,20:47:99:521,0,687 11 119510644 119510644 A C exonic NECTIN1 nonsynonymous SNV NECTIN1:NM_203285:exon6:c.T1082G:p.V361G 0.87 0.67 0.94 0.93 0.93 0.99 0.9164 0.7171 0.9645 0.9487 0.9123 0.9195 0.9382 0.9793 0.86 0.73 0.93 0.79 0.88 rs7940667 . . . . . . . . . . . . . 0.055 0.384 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . -0.93 0.752 T 0.09 0.059 N 0.03 0.011 -0.973 0.365 T 0.000 0.000 T . . . -0.182 0.077 1.197 0.643 0.073 0.000 0.002 N c -1.632 -1.539 0.142 0.173 0.515 0.199 0 1.69 0.232 0.354 0.197 -0.368 0.067 0.000 0.063 0.001 0.043 6.724 0.224 . . . 0.9219 0.7104 0.9578 0.9315 0.9500 0.9077 0.9218 0.9263 0.9788 0.8702 0.7234 0.9523 0.9437 0.9457 0.9095 0.9300 0.9039 hom 1263.31 43 11 119510644 . A C 1263.31 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=29.38;VQSLOD=8.5658;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1296,99,0 11 119999191 119999191 A G exonic TRIM29 synonymous SNV TRIM29:NM_001330382:exon2:c.T34C:p.L12L,TRIM29:NM_012101:exon2:c.T817C:p.L273L 0.93 0.99 0.88 0.96 0.86 0.91 0.9099 0.9794 0.9178 0.9676 0.9060 0.8877 0.8706 0.9236 0.92 0.98 0.89 0.95 0.88 rs569044 COSM4145401 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9071 0.9809 0.9111 0.8463 0.9675 0.9054 0.8885 0.8903 0.9227 0.9240 0.9771 0.8959 0.8709 0.9704 0.9053 0.8980 0.8811 hom 1732.08 57 11 119999191 . A G 1732.08 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.39;VQSLOD=14.1509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1765,135,0 11 120099658 120099658 A G exonic OAF nonsynonymous SNV OAF:NM_178507:exon4:c.A629G:p.H210R 0.56 0.51 0.76 0.15 0.89 0.55 0.7423 0.5534 0.6659 0.1397 0.8627 0.8795 0.7759 0.6311 0.78 0.57 0.88 0.5 0.74 rs2508489 COSM3931241 1(urinary_tract);1(thyroid) . . . . . . . . . . . 0.422 0.099 T 0.0 0.026 B 0.0 0.013 B 0.428 0.128 N 1 0.090 P -1.79 0.003 N 1.66 0.275 T 1.1 0.012 N 0.022 0.009 -1.049 0.148 T 0.000 0.000 T . . . -1.663 0.013 0.002 0.485 0.040 0.023 0.066 N c -1.424 -1.341 0.963 0.286 0.744 0.983 0 0.675 0.170 1.151 0.311 0.133 0.217 0.022 0.197 0.000 0.016 4.687 0.121 . ENSG00000137709.5 Adipose_Subcutaneous 0.7438 0.5452 0.6765 0.8253 0.1418 0.8623 0.8831 0.8087 0.6345 0.7314 0.5499 0.6962 0.7947 0.1391 0.8610 0.8678 0.7879 hom 1427.35 50 11 120099658 . A G 1427.35 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8533;MQ=59.54;MQ0=0;QD=28.55;VQSLOD=7.6632;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1460,123,0 11 120099679 120099679 G A exonic OAF nonsynonymous SNV OAF:NM_178507:exon4:c.G650A:p.R217H 0.49 0.49 0.6 0.14 0.79 0.47 0.6619 0.5244 0.5052 0.1339 0.7844 0.7958 0.6791 0.5476 0.71 0.54 0.79 0.48 0.65 rs2508490 COSM4145403 1(thyroid) . . . . . . . . . . . 0.452 0.144 T 0.006 0.126 B 0.001 0.040 B 0.100 0.199 N 0.999 0.219 P -0.41 0.029 N 1.51 0.309 T -0.1 0.119 N 0.057 0.041 -1.036 0.184 T 0.000 0.000 T . . . 1.044 0.194 10.91 0.877 0.168 0.597 0.307 D c -1.055 -0.944 0.978 0.298 0.744 0.983 0 -2.51 0.060 0.853 0.272 -0.644 0.041 1.000 0.715 0.517 0.274 7.389 0.259 . . . 0.6589 0.5181 0.5161 0.7311 0.1355 0.7827 0.7992 0.7238 0.5502 0.6729 0.5208 0.5540 0.7119 0.1351 0.7914 0.7954 0.7080 hom 1893.80 63 11 120099679 . G A 1893.80 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.84;MQ0=0;QD=30.06;VQSLOD=8.6792;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1927,159,0 11 120175749 120175749 A G exonic POU2F3 nonsynonymous SNV POU2F3:NM_001244682:exon7:c.A461G:p.H154R,POU2F3:NM_014352:exon7:c.A455G:p.H152R 0.83 0.97 0.71 0.94 0.56 0.9 0.6878 0.9095 0.8043 0.9423 0.5184 0.5699 0.6766 0.8773 0.68 0.89 0.58 0.9 0.54 rs7110845 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.205 P -2.07 0.002 N . . . . . . 0.044 0.024 -0.936 0.433 T 0.000 0.000 T . . . 0.517 0.143 7.557 0.424 0.031 0.047 0.102 N c -0.549 -0.216 1.000 0.747 0.615 0.372 0 6.17 0.997 7.711 0.835 0.092 0.196 1.000 0.715 0.995 0.604 15.859 0.787 . ENSG00000137709.5|ENSG00000137709.5 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.6867 0.9117 0.7897 0.6112 0.9391 0.5342 0.5718 0.6446 0.8774 0.6973 0.8994 0.7675 0.6490 0.9461 0.5375 0.5914 0.6201 het 1753.23 146 11 120175749 . A G 1753.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.424;DP=146;Dels=0.00;FS=4.435;HRun=0;HaplotypeScore=4.3050;MQ=58.46;MQ0=0;MQRankSum=0.736;QD=12.01;ReadPosRankSum=-0.451;VQSLOD=5.2587;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,80:146:99:1783,0,1704 11 120745874 120745874 C T exonic GRIK4 synonymous SNV GRIK4:NM_001282470:exon10:c.C1086T:p.H362H,GRIK4:NM_001282473:exon11:c.C1086T:p.H362H,GRIK4:NM_014619:exon11:c.C1086T:p.H362H 0.23 0.15 0.15 0.46 0.13 0.27 0.1804 0.1651 0.1672 0.4788 0.1440 0.1365 0.1630 0.2358 0.15 0.17 0.14 0.24 0.12 rs2230297 COSM3752180 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1814 0.1671 0.1658 0.1724 0.4781 0.1470 0.1356 0.1627 0.2369 0.1643 0.1666 0.1758 0.1556 0.4611 0.1408 0.1360 0.1629 het 1286.44 120 11 120745874 . C T 1286.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.372;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9862;MQ=58.82;MQ0=0;MQRankSum=0.818;QD=10.72;ReadPosRankSum=-0.005;VQSLOD=5.8761;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,51:120:99:1316,0,1835 11 120776001 120776001 G A exonic GRIK4 synonymous SNV GRIK4:NM_001282470:exon12:c.G1275A:p.E425E,GRIK4:NM_001282473:exon13:c.G1275A:p.E425E,GRIK4:NM_014619:exon13:c.G1275A:p.E425E 0.88 0.95 0.81 0.92 0.86 0.8 0.8555 0.9446 0.7600 0.9084 0.8821 0.8619 0.8709 0.8012 0.88 0.94 0.85 0.9 0.61 rs2156634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8512 0.9443 0.7647 0.8840 0.9125 0.8779 0.8594 0.8580 0.8044 0.8858 0.9478 0.7655 0.8974 0.9112 0.8786 0.8562 0.8684 het 3081.46 250 11 120776001 . G A 3081.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.268;DP=250;DS;Dels=0.00;FS=14.309;HRun=2;HaplotypeScore=3.7398;MQ=59.04;MQ0=0;MQRankSum=1.708;QD=12.33;ReadPosRankSum=-0.752;VQSLOD=3.7146;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:132,118:250:99:3111,0,3658 11 120827609 120827609 A G exonic GRIK4 synonymous SNV GRIK4:NM_001282470:exon15:c.A1821G:p.Q607Q,GRIK4:NM_001282473:exon16:c.A1821G:p.Q607Q,GRIK4:NM_014619:exon16:c.A1821G:p.Q607Q 0.71 0.42 0.77 0.99 0.68 0.83 0.7304 0.4323 0.8546 0.9973 0.7502 0.6961 0.7044 0.8223 0.61 0.44 0.69 0.62 0.7 rs644057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7391 0.4261 0.8376 0.6585 0.9976 0.7543 0.6950 0.7142 0.8189 0.6392 0.4261 0.8141 0.6954 0.9963 0.7352 0.6873 0.7002 het 1023.32 93 11 120827609 . A G 1023.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=93;Dels=0.00;FS=9.813;HRun=2;HaplotypeScore=2.5929;MQ=59.35;MQ0=0;MQRankSum=-0.500;QD=11.00;ReadPosRankSum=-1.493;VQSLOD=3.5499;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,41:93:99:1053,0,1618 11 120989335 120989335 A G exonic TECTA nonsynonymous SNV TECTA:NM_005422:exon6:c.A1111G:p.R371G 0.44 0.74 0.38 0.25 0.43 0.3 0.4030 0.6792 0.3279 0.2534 0.4561 0.4090 0.3921 0.3150 0.5 0.66 0.41 0.58 0.44 rs612969 COSM3752181 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038479.3|RCV000280252.1|RCV000351631.1 MedGen|MedGen|MedGen CN169374|CN239435|CN239439 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.198 P -2.505 0.001 N 0.36 0.579 T 6.13 0.000 N 0.037 0.017 -0.909 0.470 T 0.000 0.000 T . . . 0.256 0.119 5.253 0.330 0.019 0.058 0.116 N c -1.015 -0.761 0.806 0.242 0.516 0.203 0 3.86 0.435 4.963 0.632 0.138 0.222 1.000 0.715 0.687 0.306 11.718 0.507 von Willebrand factor\x2c type D domain . . 0.3975 0.6868 0.3321 0.3629 0.2514 0.4627 0.4130 0.3850 0.3168 0.4906 0.6807 0.3289 0.3775 0.2255 0.4734 0.4288 0.4173 hom 5781.70 182 11 120989335 . A G 5781.70 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3893;MQ=59.00;MQ0=0;QD=31.77;VQSLOD=9.6880;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5781,466,0 11 120996292 120996292 A G exonic TECTA synonymous SNV TECTA:NM_005422:exon7:c.A1485G:p.A495A 0.77 0.97 0.64 0.68 0.73 0.74 0.7117 0.9343 0.6105 0.6779 0.7263 0.6946 0.7148 0.7228 0.77 0.92 0.69 0.85 0.68 rs536069 COSM4145408 1(thyroid) Benign|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000038480.3|RCV000321553.1|RCV000373917.1 MedGen|MedGen|MedGen CN169374|CN239439|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7032 0.9362 0.6175 0.6274 0.6741 0.7288 0.697 0.7069 0.7250 0.7632 0.9253 0.6516 0.6093 0.6704 0.7301 0.6982 0.7265 hom 5624.51 168 11 120996292 . A G 5624.51 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.068;DP=168;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4781;MQ=59.45;MQ0=0;MQRankSum=-0.301;QD=33.48;ReadPosRankSum=-0.923;VQSLOD=8.9834;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,167:168:99:5585,449,0 11 121000774 121000774 T C exonic TECTA nonsynonymous SNV TECTA:NM_005422:exon9:c.T2795C:p.V932A 0.22 0.2 0.22 0.24 0.23 0.19 0.2141 0.1722 0.2335 0.2490 0.2385 0.2138 0.2108 0.2002 0.2 0.17 0.21 0.24 0.23 rs520805 COSM3998268 1(breast);1(bone);1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000038487.4|RCV000337237.1|RCV000400241.1 MedGen|MedGen|MedGen CN169374|CN239439|CN239435 . . . . . . 0.535 0.069 T 0.003 0.102 B 0.003 0.080 B 0.000 0.452 N 0.223 0.342 P 0.92 0.235 L -0.99 0.759 T 0.3 0.041 N 0.148 0.175 -1.075 0.083 T 0.000 0.000 T . . . 0.881 0.178 9.957 0.630 0.069 0.651 0.324 D c -0.253 -0.061 0.989 0.318 0.554 0.246 0 4.65 0.575 3.039 0.492 1.060 0.767 1.000 0.715 1.000 0.888 11.707 0.507 Uncharacterised domain\x2c cysteine-rich . . 0.2169 0.1719 0.2319 0.2121 0.2469 0.2453 0.2133 0.2165 0.2002 0.2145 0.1756 0.2303 0.2185 0.2193 0.2463 0.2275 0.2251 hom 3878.17 119 11 121000774 . T C 3878.17 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3639;MQ=58.62;MQ0=0;QD=32.59;VQSLOD=9.2750;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3878,301,0 11 121000784 121000784 T C exonic TECTA synonymous SNV TECTA:NM_005422:exon9:c.T2805C:p.Y935Y 0.75 0.89 0.64 0.68 0.73 0.74 0.7041 0.8675 0.6060 0.6799 0.7258 0.6918 0.7126 0.7229 0.75 0.86 0.69 0.83 0.69 rs586473 COSM4145410 1(thyroid) Benign|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000038488.4|RCV000297945.1|RCV000355202.1 MedGen|MedGen|MedGen CN169374|CN239439|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6966 0.8686 0.6115 0.6261 0.6758 0.7276 0.6938 0.7011 0.7250 0.7446 0.8655 0.6480 0.6093 0.6706 0.7292 0.6949 0.7245 hom 3538.01 116 11 121000784 . T C 3538.01 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0627;MQ=59.08;MQ0=0;QD=30.50;VQSLOD=8.0779;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3538,280,0 11 121032978 121032978 G A exonic TECTA nonsynonymous SNV TECTA:NM_005422:exon15:c.G5171A:p.S1724N 1. 1. 1. 1. 0.99 1. 0.9927 0.9979 0.9953 1 0.9920 0.9891 0.9923 0.9984 0.99 1. 0.99 0.99 0.99 rs526433 . . Benign|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000038501.4|RCV000285623.1|RCV000317317.1 MedGen|MedGen|MedGen CN169374|CN239439|CN239435 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.216 P -0.52 0.025 N -1.06 0.768 T 0.92 0.016 N 0.04 0.029 -0.948 0.414 T 0.000 0.000 T . . . 1.052 0.195 10.95 0.267 0.013 0.445 0.271 N c -0.548 -0.269 0.950 0.278 0.581 0.326 0 5.54 0.828 5.889 0.693 0.244 0.267 1.000 0.715 0.994 0.587 11.584 0.500 Uncharacterised domain\x2c cysteine-rich . . 0.9928 0.9985 0.9959 0.9971 1 0.9924 0.9884 0.9909 0.9983 0.9915 0.9976 0.9976 0.9967 1 0.9914 0.9868 0.9898 hom 2979.32 95 11 121032978 . G A 2979.32 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3913;MQ=59.12;MQ0=0;QD=31.36;VQSLOD=8.8560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3012,247,0 11 121403229 121403229 T C exonic SORL1 synonymous SNV SORL1:NM_003105:exon12:c.T1653C:p.A551A 0.99 0.95 1. 1. 1. 1. 0.9953 0.9479 0.9983 1 1 1 0.9989 0.9999 0.98 0.95 1. 0.96 1. rs636588 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9482 0.9980 1 1 1 1.0000 0.9978 0.9999 0.9868 0.9532 1 1 1 1 1 0.9990 hom 2312.38 77 11 121403229 . T C 2312.38 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=30.03;VQSLOD=9.1074;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2345,178,0 11 121437819 121437819 C G exonic SORL1 nonsynonymous SNV SORL1:NM_003105:exon22:c.C3220G:p.Q1074E 0.98 0.94 1. 1. 1. 1. 0.9949 0.9432 0.9980 1 1 1.0000 0.9989 0.9999 0.98 0.94 1. 0.94 1. rs1699107 . . . . . . . . . . . . . 0.168 0.230 T 0.0 0.026 B 0.0 0.013 B 0.145 0.181 N 1.000 0.195 P -0.6 0.022 N -2.72 0.906 D -0.15 0.093 N 0.08 0.072 -0.939 0.428 T 0.000 0.000 T . . . 0.648 0.156 8.481 0.632 0.070 0.191 0.203 N c -0.896 -0.678 1.000 0.747 0.731 0.878 0 4.38 0.519 3.187 0.504 0.026 0.148 1.000 0.715 0.970 0.461 13.339 0.598 . . . 0.9961 0.9440 0.9978 1 1 1 1.0000 0.9978 0.9999 0.9852 0.9476 1 1 1 1 1 0.9980 hom 3406.10 107 11 121437819 . C G 3406.10 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.43;MQ0=0;QD=31.83;VQSLOD=9.5126;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3406,265,0 11 121456962 121456962 C T exonic SORL1 synonymous SNV SORL1:NM_003105:exon27:c.C3738T:p.N1246N 0.41 0.48 0.41 0.14 0.67 0.31 0.5310 0.4912 0.3062 0.1134 0.6326 0.6582 0.5474 0.3770 0.61 0.49 0.67 0.48 0.61 rs1699102 COSM4145412 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5284 0.4909 0.3293 0.7136 0.1074 0.6355 0.6603 0.5678 0.3779 0.5661 0.4906 0.3600 0.69 0.0946 0.6345 0.6516 0.6033 hom 8063.22 250 11 121456962 . C T 8063.22 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1960;MQ=59.10;MQ0=0;QD=32.25;VQSLOD=8.8112;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8062,644,0 11 121491782 121491782 G A exonic SORL1 nonsynonymous SNV SORL1:NM_003105:exon44:c.G5899A:p.V1967I 0.98 0.93 0.99 1. 1. 1. 0.9953 0.9486 0.9978 1 1 0.9999 0.9978 0.9999 0.98 0.95 1. 0.98 0.98 rs1792120 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.003 0.080 B 0.002 0.379 N 1 0.090 P 0.42 0.125 N 0.17 0.605 T 0.27 0.059 N 0.089 0.107 -0.903 0.477 T 0.000 0.000 T . . . 0.040 0.097 2.980 0.265 0.013 0.153 0.186 N c -1.034 -0.922 0.783 0.238 0.707 0.730 0 0.391 0.154 1.688 0.371 0.244 0.267 0.940 0.324 0.909 0.387 11.215 0.479 Fibronectin type III|Immunoglobulin-like fold . . 0.9962 0.9471 0.9971 1 1 1 0.9998 0.9987 0.9999 0.9852 0.9477 0.9988 1 1 1 1 0.9980 hom 1920.50 66 11 121491782 . G A 1920.50 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.10;VQSLOD=13.5113;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1953,147,0 11 122646967 122646967 G A exonic UBASH3B nonsynonymous SNV UBASH3B:NM_032873:exon2:c.G202A:p.A68T 0.2 0.033 0.31 0.17 0.31 0.24 0.2727 0.0738 0.2776 0.1952 0.2367 0.3171 0.3084 0.2679 0.24 0.085 0.32 0.15 0.32 rs12790613 COSM147340 1(stomach);3(large_intestine) . . . . . . . . . . . 0.302 0.144 T 0.875 0.461 P 0.665 0.511 P 0.000 0.629 D 0.000 0.588 P 2.275 0.649 M 1.94 0.227 T -0.28 0.116 N 0.195 0.256 -0.929 0.444 T 0.000 0.000 T . . . 4.863 0.653 24.9 0.997 0.838 0.978 0.774 D c 0.241 0.265 1.000 0.424 0.693 0.558 0 4.23 0.492 6.202 0.719 0.135 0.219 1.000 0.715 0.999 0.750 13.640 0.616 UBA-like|Ubiquitin-associated domain . . 0.2711 0.0656 0.2665 0.3681 0.1891 0.2415 0.3133 0.2876 0.2589 0.2327 0.0743 0.3130 0.4305 0.2147 0.2491 0.3120 0.2729 het 1229.22 108 11 122646967 . G A 1229.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.019;DP=108;Dels=0.00;FS=4.846;HRun=0;HaplotypeScore=0.9987;MQ=59.03;MQ0=0;MQRankSum=0.862;QD=11.38;ReadPosRankSum=0.191;VQSLOD=6.0868;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,57:108:99:1259,0,1312 11 122742050 122742050 T C exonic CRTAM synonymous SNV CRTAM:NM_001304782:exon5:c.T528C:p.N176N,CRTAM:NM_019604:exon10:c.T1125C:p.N375N 0.14 0.18 0.069 0.17 0.1 0.13 0.1109 0.1664 0.0675 0.1627 0.0537 0.1001 0.1211 0.1455 0.12 0.16 0.1 0.25 0.074 rs34242434 COSM4415028;COSM4415027 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1072 0.1686 0.0666 0.1475 0.1622 0.0531 0.0992 0.1103 0.1450 0.1100 0.1498 0.0863 0.1589 0.1681 0.0510 0.0964 0.0859 het 1730.06 126 11 122742050 . T C 1730.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.549;DP=126;DS;Dels=0.00;FS=1.554;HRun=0;HaplotypeScore=1.6545;MQ=59.63;MQ0=0;MQRankSum=-0.622;QD=13.73;ReadPosRankSum=-0.314;VQSLOD=6.3768;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,69:126:99:1760,0,1508 11 122795688 122795688 T C exonic C11orf63 synonymous SNV C11orf63:NM_024806:exon4:c.T948C:p.D316D 0.18 0.076 0.21 0.2 0.29 0.16 0.2437 0.1062 0.1367 0.2000 0.3029 0.3002 0.2753 0.1744 0.24 0.11 0.31 0.16 0.27 rs11218891 COSM3998273 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2446 0.1019 0.1431 0.3610 0.2085 0.2988 0.2976 0.2737 0.1730 0.2294 0.1071 0.1647 0.3212 0.2186 0.2773 0.2903 0.2628 het 2230.22 162 11 122795688 . T C 2230.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.230;DP=162;DS;Dels=0.00;FS=0.690;HRun=0;HaplotypeScore=1.9443;MQ=59.39;MQ0=1;MQRankSum=-0.904;QD=13.77;ReadPosRankSum=2.084;VQSLOD=5.8068;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,81:162:99:2260,0,2147 11 123598941 123598941 T C exonic ZNF202 synonymous SNV ZNF202:NM_001301819:exon4:c.A60G:p.V20V,ZNF202:NM_001301780:exon5:c.A732G:p.V244V,ZNF202:NM_001301779:exon6:c.A732G:p.V244V,ZNF202:NM_003455:exon7:c.A732G:p.V244V 0.23 0.016 0.3 0.36 0.27 0.3 0.2613 0.0518 0.3078 0.3610 0.2934 0.2690 0.2467 0.2655 0.21 0.06 0.28 0.23 0.22 rs2282644 COSM4414929 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2703 0.0476 0.3035 0.3087 0.3610 0.2880 0.2716 0.2733 0.2635 0.2215 0.0500 0.3110 0.3079 0.3629 0.2887 0.2794 0.2872 het 1540.52 151 11 123598941 . T C 1540.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.363;DP=151;Dels=0.00;FS=0.611;HRun=0;HaplotypeScore=5.7140;MQ=58.23;MQ0=0;MQRankSum=0.560;QD=10.20;ReadPosRankSum=-0.066;VQSLOD=5.1220;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,64:151:99:1571,0,2206 11 123600475 123600475 A G exonic ZNF202 nonsynonymous SNV ZNF202:NM_001301780:exon3:c.T461C:p.V154A,ZNF202:NM_001301779:exon4:c.T461C:p.V154A,ZNF202:NM_003455:exon5:c.T461C:p.V154A 0.67 0.77 0.67 0.48 0.7 0.67 0.6885 0.7676 0.6690 0.4727 0.6789 0.7047 0.7080 0.7022 0.72 0.76 0.69 0.64 0.75 rs1144507 COSM4145428 1(thyroid) . . . . . . . . . . . 0.837 0.028 T 0.0 0.026 B 0.0 0.013 B 0.803 0.093 N 1 0.090 P -2.07 0.002 N 3.48 0.052 T 0.96 0.015 N 0.004 0.007 -1.034 0.192 T 0.000 0.000 T . . . -0.552 0.053 0.164 0.378 0.025 0.002 0.013 N c -1.247 -1.125 0.973 0.293 0.672 0.522 0 2.24 0.271 0.470 0.216 -0.285 0.084 0.000 0.063 0.014 0.122 3.444 0.070 SCAN domain ENSG00000166261.6|ENSG00000166261.6|ENSG00000204300.2|ENSG00000166261.6|ENSG00000166261.6 Esophagus_Mucosa|Nerve_Tibial|Testis|Testis|Thyroid 0.6822 0.7677 0.6709 0.6848 0.4693 0.6855 0.6994 0.6944 0.7034 0.6970 0.7666 0.6623 0.6854 0.4507 0.6776 0.6916 0.6680 het 871.05 107 11 123600475 . A G 871.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.361;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.43;MQ0=0;MQRankSum=0.824;QD=8.14;ReadPosRankSum=-1.895;VQSLOD=5.8168;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,41:107:99:901,0,1634 11 123624658 123624658 G T exonic OR6X1 nonsynonymous SNV OR6X1:NM_001005188:exon1:c.C569A:p.T190N 0.077 0.022 0.094 0.024 0.18 0.091 0.1219 0.0342 0.0672 0.0243 0.1488 0.1599 0.1388 0.1018 0.12 0.043 0.16 0.065 0.14 rs12364099 . . . . . . . . . . . . . 0.001 0.784 D 0.029 0.185 B 0.041 0.226 B . . . 0.893 0.278 P 3.075 0.874 M 8.42 0.003 T -4.32 0.766 D 0.029 0.013 -1.020 0.238 T 0.000 0.000 T . . . 1.691 0.264 14.36 0.989 0.473 0.309 0.240 N c -0.551 -0.590 0.899 0.260 0.497 0.185 0 3.46 0.386 2.735 0.468 0.136 0.221 0.993 0.376 0.548 0.279 11.570 0.499 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1233 0.0318 0.0748 0.2303 0.0244 0.1432 0.1565 0.1564 0.1020 0.1092 0.0382 0.0801 0.2517 0.0191 0.1453 0.1492 0.1283 het 1749.54 154 11 123624658 . G T 1749.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.914;DP=154;Dels=0.00;FS=9.966;HRun=1;HaplotypeScore=4.5407;MQ=58.72;MQ0=0;MQRankSum=-0.935;QD=11.36;ReadPosRankSum=-1.516;VQSLOD=3.8346;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:87,66:154:99:1780,0,2432 11 123676413 123676413 G A exonic OR6M1 synonymous SNV OR6M1:NM_001005325:exon1:c.C645T:p.Y215Y 0.22 0.32 0.27 0.19 0.19 0.14 0.1923 0.2850 0.2909 0.2072 0.1854 0.1703 0.2064 0.1483 0.2 0.27 0.16 0.29 0.19 rs7952150 COSM4145429 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1979 0.2873 0.2908 0.2691 0.2132 0.1817 0.1646 0.2087 0.1510 0.2020 0.2787 0.2876 0.2649 0.1999 0.1809 0.1581 0.1786 het 1144.62 87 11 123676413 . G A 1144.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.739;DP=87;Dels=0.00;FS=2.855;HRun=0;HaplotypeScore=1.7333;MQ=58.23;MQ0=0;MQRankSum=1.079;QD=13.16;ReadPosRankSum=0.013;VQSLOD=5.6813;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,40:87:99:1175,0,1197 11 123753937 123753937 A G exonic TMEM225 nonsynonymous SNV TMEM225:NM_001013743:exon4:c.T586C:p.C196R 0.92 1. 0.92 0.84 0.88 0.92 0.8951 0.9808 0.9510 0.8318 0.8794 0.8806 0.8863 0.9007 0.91 0.98 0.88 0.97 0.87 rs1939927 COSM5765636 1(large_intestine) . . . . . . . . . . . 0.895 0.029 T 0.0 0.026 B 0.0 0.013 B 0.013 0.013 N 1 0.090 P -0.805 0.016 N 1.73 0.267 T 3.72 0.001 N 0.027 0.396 -0.986 0.335 T 0.000 0.000 T . . . -2.014 0.008 0.001 0.208 0.008 0.000 0.003 N c -1.983 -2.002 0.000 0.056 0.487 0.133 0 -5.05 0.027 -2.321 0.012 -2.460 0.003 0.000 0.063 0.000 0.016 0.249 0.002 . . . 0.8950 0.9823 0.9491 0.8862 0.8320 0.8826 0.8779 0.8988 0.9008 0.9027 0.9781 0.9463 0.8974 0.8048 0.8844 0.8719 0.8921 hom 4112.53 129 11 123753937 . A G 4112.53 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2604;MQ=59.46;MQ0=0;QD=31.88;VQSLOD=8.4564;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4112,340,0 11 123753958 123753958 C T exonic TMEM225 nonsynonymous SNV TMEM225:NM_001013743:exon4:c.G565A:p.E189K 0.041 0.015 0.043 0.022 0.096 0.036 0.0618 0.0203 0.0260 0.0231 0.0812 0.0830 0.0673 0.0389 0.058 0.024 0.075 0.043 0.098 rs35551906 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.570 0.055 N 1 0.090 N 0.205 0.094 N 1.54 0.307 T 0.74 0.020 N 0.032 0.317 -1.024 0.225 T 0.001 0.004 T . . . -1.681 0.013 0.002 0.281 0.014 0.002 0.010 N c -2.114 -2.178 0.031 0.140 0.487 0.133 0 -6.87 0.015 -0.215 0.092 -2.007 0.005 0.005 0.169 0.000 0.016 8.777 0.337 . ENSG00000204300.2 Testis 0.0620 0.0200 0.0306 0.0876 0.0234 0.0833 0.0824 0.0771 0.0383 0.0596 0.0220 0.0347 0.1026 0.0188 0.0796 0.0813 0.0653 het 1447.18 112 11 123753958 . C T 1447.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.485;DP=112;Dels=0.00;FS=4.894;HRun=2;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=0.670;QD=12.92;ReadPosRankSum=-1.515;VQSLOD=5.5540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,53:112:99:1477,0,1569 11 123754844 123754844 T C exonic TMEM225 nonsynonymous SNV TMEM225:NM_001013743:exon3:c.A401G:p.N134S 1. 1. 1. 1. 1. 1. 0.9996 0.9998 0.9997 1 1 0.9994 1 1 1. 1. 1. 1. 0.99 rs10893099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9997 0.9998 1 1 1.0000 0.9993 0.9993 1 0.9995 0.9998 0.9988 1 1 1 0.9993 1 hom 3654.55 125 11 123754844 . T C 3654.55 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9961;MQ=57.14;MQ0=0;QD=29.24;VQSLOD=5.4953;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:125:99:3609,271,0 11 123777302 123777302 T G exonic OR8D4 nonsynonymous SNV OR8D4:NM_001005197:exon1:c.T164G:p.L55R 0.19 0.28 0.15 0.093 0.18 0.18 0.1772 0.2530 0.0931 0.0751 0.1472 0.1953 0.1630 0.1814 0.21 0.25 0.19 0.2 0.16 rs17127947 COSM147343 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.992 0.790 D 0.001 0.426 D 0.000 0.497 P 4.755 0.996 H 2.48 0.147 T -5.15 0.833 D 0.336 0.453 -1.019 0.242 T 0.000 0.000 T . . . 4.930 0.663 25.0 0.997 0.806 0.996 0.982 D c 0.872 0.715 0.999 0.377 0.487 0.133 0 5.67 0.876 7.906 0.867 1.017 0.643 1.000 0.715 0.951 0.427 14.889 0.701 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1716 0.2552 0.0958 0.2042 0.0689 0.1502 0.1965 0.1915 0.1819 0.1935 0.2448 0.0943 0.2119 0.0603 0.1574 0.1926 0.1772 het 2745.05 225 11 123777302 . T G 2745.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.834;DP=225;Dels=0.00;FS=3.902;HRun=0;HaplotypeScore=2.8202;MQ=59.40;MQ0=0;MQRankSum=0.292;QD=12.20;ReadPosRankSum=-1.598;VQSLOD=5.8089;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:116,108:225:99:2775,0,3213 11 123777412 123777412 A G exonic OR8D4 nonsynonymous SNV OR8D4:NM_001005197:exon1:c.A274G:p.I92V 0.19 0.28 0.15 0.093 0.18 0.18 0.1772 0.2529 0.0931 0.0750 0.1472 0.1953 0.1630 0.1813 0.21 0.25 0.19 0.2 0.16 rs17127950 COSM4416939 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.031 0.450 D 0.019 0.167 B 0.033 0.210 B 0.006 0.327 N 0.921 0.273 P 2.61 0.766 M 3.42 0.055 T -0.94 0.251 N 0.037 0.017 -1.014 0.257 T 0.000 0.000 T . . . 0.911 0.181 10.14 0.899 0.186 0.857 0.446 D c -0.465 -0.441 0.000 0.029 0.487 0.133 0 3.53 0.394 2.225 0.424 0.202 0.252 0.922 0.318 0.327 0.242 7.826 0.283 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1716 0.2551 0.0957 0.2042 0.0689 0.1501 0.1965 0.1913 0.1819 0.1934 0.2445 0.0933 0.2067 0.0589 0.1575 0.1927 0.1776 het 3210.53 250 11 123777412 . A G 3210.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.074;DP=250;DS;Dels=0.00;FS=0.467;HRun=0;HaplotypeScore=2.6141;MQ=59.42;MQ0=0;MQRankSum=0.869;QD=12.84;ReadPosRankSum=-0.257;VQSLOD=6.7129;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3241,0,3426 11 123777497 123777497 G A exonic OR8D4 nonsynonymous SNV OR8D4:NM_001005197:exon1:c.G359A:p.C120Y 0.81 0.9 0.87 0.77 0.8 0.68 0.8015 0.8741 0.8931 0.7986 0.8284 0.7984 0.7941 0.6949 0.82 0.88 0.79 0.63 0.78 rs10750250 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.014 0.286 N 1.000 0.202 P -3.305 0.000 N 8.13 0.003 T 8.01 0.000 N 0.045 0.025 -1.013 0.259 T 0.000 0.000 T . . . -0.860 0.038 0.031 0.239 0.010 0.067 0.126 N c -1.252 -0.939 0.000 0.038 0.487 0.133 0 4.66 0.577 0.942 0.284 0.207 0.253 0.269 0.248 0.765 0.326 9.841 0.400 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8051 0.8780 0.8894 0.8432 0.7847 0.8308 0.7927 0.8262 0.6985 0.8217 0.8756 0.8864 0.8333 0.7767 0.8396 0.7865 0.8326 hom 7462.77 229 11 123777497 . G A 7462.77 Mask AC=2;AF=1.00;AN=2;DP=229;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5205;MQ=59.49;MQ0=0;QD=32.59;VQSLOD=6.9953;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,228:229:99:7462,635,0 11 123777502 123777502 C T exonic OR8D4 nonsynonymous SNV OR8D4:NM_001005197:exon1:c.C364T:p.R122C 0.048 0.047 0.045 0.0089 0.11 0.032 0.0716 0.0539 0.0268 0.0091 0.1104 0.0910 0.0749 0.0524 0.074 0.053 0.085 0.098 0.13 rs61907183 COSM5525368 1(NS);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.012 0.546 D 0.258 0.297 B 0.032 0.208 B 0.005 0.336 N 0.020 0.396 P 2.41 0.699 M -1.09 0.772 T -7.18 0.942 D 0.243 0.321 -0.731 0.590 T 0.013 0.051 T . . . 5.625 0.766 26.6 0.992 0.553 0.923 0.550 D c -0.101 -0.061 0.000 0.064 0.554 0.246 0 3.81 0.429 0.126 0.155 0.015 0.141 0.005 0.169 0.765 0.326 9.601 0.386 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0701 0.0550 0.0302 0.1039 0.0072 0.1092 0.0879 0.0773 0.0519 0.0751 0.0568 0.0298 0.0861 0.0062 0.1092 0.0861 0.0984 het 3226.07 224 11 123777502 . C T 3226.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.728;DP=224;DS;Dels=0.00;FS=1.712;HRun=1;HaplotypeScore=8.6236;MQ=59.59;MQ0=0;MQRankSum=0.401;QD=14.40;ReadPosRankSum=-0.370;VQSLOD=3.8020;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,110:224:99:3256,0,3002 11 123777536 123777536 G A exonic OR8D4 nonsynonymous SNV OR8D4:NM_001005197:exon1:c.G398A:p.R133K 0.69 0.65 0.79 0.73 0.68 0.63 0.6986 0.6490 0.8523 0.7437 0.7105 0.6900 0.6993 0.6285 0.68 0.65 0.69 0.67 0.61 rs7926767 . . . . . . . . . . . . . 0.146 0.250 T 0.0 0.026 B 0.0 0.013 B 0.798 0.067 N 1 0.090 P -0.25 0.038 N 2.17 0.190 T 0.03 0.066 N 0.017 0.005 -1.022 0.232 T 0.000 0.000 T . . . -0.837 0.039 0.035 0.791 0.122 0.009 0.035 N c -1.451 -1.422 0.000 0.012 0.554 0.246 0 -0.916 0.099 -1.958 0.016 -0.729 0.036 0.000 0.063 0.029 0.146 1.765 0.028 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7074 0.6483 0.8425 0.7089 0.7351 0.7131 0.6891 0.7209 0.6335 0.6853 0.6436 0.8365 0.7053 0.7440 0.7226 0.6837 0.7157 het 3029.10 204 11 123777536 . G A 3029.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.839;DP=204;Dels=0.00;FS=7.983;HRun=1;HaplotypeScore=3.4443;MQ=59.55;MQ0=0;MQRankSum=-0.684;QD=14.85;ReadPosRankSum=0.672;VQSLOD=4.6181;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:102,102:204:99:3059,0,2998 11 123777861 123777861 T C exonic OR8D4 synonymous SNV OR8D4:NM_001005197:exon1:c.T723C:p.C241C 0.16 0.2 0.14 0.093 0.18 0.18 0.1718 0.1945 0.0896 0.0750 0.1472 0.1952 0.1575 0.1815 0.19 0.19 0.19 0.15 0.16 rs61748875 COSM147344 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1671 0.1964 0.0920 0.2031 0.0688 0.1502 0.1961 0.1894 0.1818 0.1768 0.1875 0.0847 0.2086 0.0605 0.1574 0.1924 0.1714 het 2363.96 179 11 123777861 . T C 2363.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.268;DP=179;Dels=0.00;FS=3.466;HRun=0;HaplotypeScore=1.9681;MQ=59.77;MQ0=0;MQRankSum=1.610;QD=13.21;ReadPosRankSum=0.857;VQSLOD=5.7601;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,88:179:99:2394,0,2268 11 123777986 123777986 T C exonic OR8D4 nonsynonymous SNV OR8D4:NM_001005197:exon1:c.T848C:p.L283P 0.81 0.9 0.87 0.77 0.8 0.68 0.8015 0.8725 0.8932 0.7983 0.8280 0.7986 0.7941 0.6954 0.82 0.87 0.79 0.9 0.78 rs7942047 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.473 N 0.031 0.387 P 0 0.065 N 1.52 0.307 T 9.39 0.000 N 0.034 0.016 -0.967 0.378 T 0.000 0.000 T . . . 1.102 0.200 11.23 0.285 0.015 0.028 0.075 N c -0.519 -0.253 0.035 0.142 0.487 0.133 0 5.67 0.876 3.303 0.513 0.043 0.157 0.705 0.284 0.992 0.562 13.818 0.626 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8050 0.8759 0.8895 0.8432 0.7847 0.8308 0.7927 0.8260 0.6984 0.8217 0.8742 0.8866 0.8344 0.7774 0.8399 0.7871 0.8306 hom 3489.48 112 11 123777986 . T C 3489.48 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8284;MQ=58.39;MQ0=0;QD=31.16;VQSLOD=8.2365;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3489,262,0 11 123778031 123778031 G A exonic OR8D4 nonsynonymous SNV OR8D4:NM_001005197:exon1:c.G893A:p.R298K 0.69 0.65 0.79 0.73 0.68 0.64 0.7011 0.6498 0.8523 0.7425 0.7104 0.6907 0.7079 0.6400 0.68 0.65 0.69 0.67 0.57 rs7927385 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.340 N 1 0.090 P -0.58 0.023 N 0.56 0.546 T 2.13 0.004 N 0.034 0.015 -0.940 0.427 T 0.000 0.000 T . . . -0.222 0.074 0.986 0.155 0.004 0.034 0.084 N c -1.194 -0.957 0.000 0.058 0.487 0.133 0 5.27 0.737 1.681 0.370 0.207 0.253 0.152 0.235 0.826 0.345 7.807 0.282 . . . 0.7015 0.6474 0.8319 0.7026 0.7302 0.7119 0.6860 0.7154 0.6272 0.6855 0.6430 0.8365 0.7053 0.7463 0.7225 0.6842 0.7172 het 692.08 66 11 123778031 . G A 692.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.017;DP=66;Dels=0.00;FS=1.064;HRun=3;HaplotypeScore=0.9469;MQ=58.99;MQ0=0;MQRankSum=-0.952;QD=10.49;ReadPosRankSum=0.587;VQSLOD=6.2322;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,27:66:99:722,0,1086 11 123810492 123810492 A C exonic OR4D5 nonsynonymous SNV OR4D5:NM_001001965:exon1:c.A169C:p.T57P 0.007 0.003 0.013 . 0.022 . 0.0141 0.0037 0.0054 0 0.0165 0.0221 0.0089 0.0007 0.015 0.0032 0.021 . 0.0082 rs77776318 . . . . . . . . . . . . . 0.01 0.564 D 0.997 0.689 D 0.964 0.693 D 0.000 0.497 D 0.948 0.266 N 3.285 0.905 M 7.73 0.004 T -3.32 0.660 D 0.311 0.391 -1.068 0.098 T 0.002 0.006 T . . . 4.261 0.571 23.9 0.995 0.666 0.198 0.206 N c 0.468 0.333 0.000 0.029 0.487 0.133 0 4.08 0.467 -0.145 0.102 1.162 0.901 0.000 0.063 0.987 0.523 10.773 0.453 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0139 0.0033 0.0054 0.0021 0 0.0194 0.0238 0.0134 0.0006 0.0193 0.0041 0.0072 0.0033 0 0.0272 0.0291 0.0214 het 1911.38 143 11 123810492 . A C 1911.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.393;DP=143;Dels=0.00;FS=3.075;HRun=1;HaplotypeScore=9.4297;MQ=59.07;MQ0=0;MQRankSum=-0.398;QD=13.27;ReadPosRankSum=0.539;VQSLOD=4.0903;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,70:143:99:1941,0,1962 11 123848121 123848121 T C exonic OR10S1 nonsynonymous SNV OR10S1:NM_001004474:exon1:c.A278G:p.K93R 0.18 0.16 0.22 0.12 0.29 0.14 0.2336 0.1677 0.1867 0.1198 0.2887 0.2738 0.2821 0.1811 0.23 0.17 0.26 0.17 0.28 rs17686210 COSM4145433 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.174 0.225 T 0.988 0.604 D 0.676 0.515 P 0.036 0.246 U 0.997 0.227 P 1.63 0.419 L 3.26 0.067 T -2.11 0.480 N 0.099 0.101 -0.879 0.498 T 0.000 0.000 T . . . 1.121 0.202 11.33 0.990 0.499 0.332 0.246 N c -0.112 -0.121 0.975 0.296 0.487 0.133 0 3.69 0.413 0.900 0.279 0.096 0.197 0.004 0.165 0.998 0.697 11.659 0.504 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000166261.6 Testis 0.2325 0.1658 0.1926 0.2986 0.1152 0.2883 0.2667 0.2625 0.1843 0.2249 0.1646 0.2184 0.2848 0.1224 0.2927 0.2528 0.2469 het 1024.24 78 11 123848121 . T C 1024.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.005;DP=78;Dels=0.00;FS=0.858;HRun=2;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;MQRankSum=-0.495;QD=13.13;ReadPosRankSum=-0.785;VQSLOD=6.4130;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:1054,0,1076 11 123848212 123848212 C T exonic OR10S1 nonsynonymous SNV OR10S1:NM_001004474:exon1:c.G187A:p.G63S 0.17 0.13 0.21 0.12 0.29 0.14 0.2320 0.1476 0.1855 0.1198 0.2893 0.2741 0.2794 0.1811 0.22 0.15 0.26 0.15 0.29 rs17759513 COSM4419234 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.431 0.095 T 0.01 0.144 B 0.003 0.080 B 0.528 0.052 U 1.000 0.192 P -0.5 0.026 N 5.37 0.011 T 0.41 0.034 N 0.089 0.086 -0.950 0.411 T 0.000 0.000 T . . . 1.780 0.275 14.87 0.936 0.229 0.046 0.102 N c -0.751 -0.608 0.905 0.262 0.487 0.133 0 1.9 0.247 -1.107 0.034 0.893 0.410 0.000 0.063 1.000 0.888 4.521 0.113 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000166261.6 Testis 0.2312 0.1460 0.1918 0.2984 0.1152 0.2887 0.2666 0.2633 0.1843 0.2197 0.1463 0.2184 0.2848 0.1228 0.2928 0.2526 0.2490 het 1306.08 67 11 123848212 . C T 1306.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.167;DP=67;Dels=0.00;FS=3.533;HRun=0;HaplotypeScore=9.4562;MQ=59.31;MQ0=0;MQRankSum=-1.380;QD=19.49;ReadPosRankSum=0.926;VQSLOD=2.6224;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:24,42:67:99:1336,0,646 11 124015994 124015994 C T exonic VWA5A synonymous SNV VWA5A:NM_014622:exon17:c.C2205T:p.H735H,VWA5A:NM_001130142:exon18:c.C2205T:p.H735H 0.6 0.78 0.54 0.71 0.52 0.39 0.5467 0.7256 0.5203 0.7510 0.5630 0.5192 0.5407 0.4501 0.59 0.71 0.52 0.66 0.53 rs1056615 COSM3752193 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5454 0.7266 0.5215 0.6182 0.7549 0.5624 0.5122 0.5502 0.4481 0.5916 0.7306 0.5300 0.6192 0.7787 0.5657 0.5035 0.5276 het 1395.03 118 11 124015994 . C T 1395.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.628;DP=118;Dels=0.00;FS=2.473;HRun=0;HaplotypeScore=1.5762;MQ=59.68;MQ0=0;MQRankSum=0.116;QD=11.82;ReadPosRankSum=-1.512;VQSLOD=6.0943;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,56:118:99:1425,0,1833 11 124095414 124095414 C G exonic OR8G2P nonsynonymous SNV OR8G2P:NM_001291438:exon1:c.C17G:p.S6C 0.45 0.61 0.34 0.32 0.34 0.56 0.3828 0.5692 0.3713 0.3221 0.2931 0.3389 0.3952 0.5537 0.39 0.54 0.33 0.43 . rs10893172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3689 0.5665 0.3625 0.2959 0.3133 0.2906 0.3352 0.3510 0.5183 0.3903 0.5516 0.3705 0.3067 0.2902 0.2989 0.3343 0.3490 het 653.70 36 11 124095414 . C G 653.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.276;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;MQRankSum=2.061;QD=18.16;ReadPosRankSum=-0.243;VQSLOD=6.0328;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,22:36:99:684,0,377 11 124095525 124095525 T C exonic OR8G2P nonsynonymous SNV OR8G2P:NM_001291438:exon1:c.T128C:p.L43P 0.43 0.54 0.34 0.32 0.34 0.56 0.3712 0.5027 0.3642 0.3134 0.2912 0.3311 0.3933 0.5208 0.37 0.47 0.32 0.41 . rs11219508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3675 0.5023 0.3620 0.3009 0.3131 0.2930 0.3375 0.3503 0.5238 0.3714 0.4861 0.3612 0.3113 0.2882 0.2996 0.3341 0.3442 het 3103.07 250 11 124095525 . T C 3103.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.875;DP=250;DS;Dels=0.00;FS=4.274;HRun=2;HaplotypeScore=5.3175;MQ=59.31;MQ0=0;MQRankSum=-0.790;QD=12.41;ReadPosRankSum=0.627;VQSLOD=4.0786;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3133,0,3915 11 124095647 124095647 A C exonic OR8G2P nonsynonymous SNV OR8G2P:NM_001291438:exon1:c.A250C:p.I84L 0.63 0.84 0.56 0.48 0.48 0.68 0.5369 0.7964 0.5937 0.4669 0.4371 0.4839 0.5244 0.6335 0.59 0.79 0.49 0.62 . rs2466615 COSN19369139 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5320 0.7982 0.5823 0.4453 0.4573 0.4334 0.4924 0.5064 0.6342 0.5659 0.7784 0.5801 0.4470 0.4254 0.4324 0.4947 0.5 het 4546.23 250 11 124095647 . A C 4546.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.819;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3373;MQ=59.28;MQ0=0;MQRankSum=2.147;QD=18.18;ReadPosRankSum=-0.057;VQSLOD=2.4236;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,130:250:99:3859,0,3267 11 124120821 124120821 T C exonic OR8G1 unknown UNKNOWN 0.29 0.2 0.28 0.26 0.32 0.41 0.3088 0.2120 0.3400 0.2620 0.2734 0.3049 0.3356 0.3978 0.26 0.2 0.3 0.24 . rs12099154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3112 0.2083 0.3370 0.2653 0.2649 0.2726 0.3118 0.3072 0.4017 0.2750 0.2105 0.3225 0.28 0.2443 0.2752 0.3112 0.3012 het 2433.81 188 11 124120821 . T C 2433.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.118;DP=188;DS;Dels=0.00;FS=1.221;HRun=0;HaplotypeScore=1.9150;MQ=53.18;MQ0=0;MQRankSum=1.383;QD=12.95;ReadPosRankSum=0.223;VQSLOD=2.2982;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:95,93:188:99:2464,0,2536 11 124121199 124121199 G C exonic OR8G1 unknown UNKNOWN 0.44 0.32 0.56 0.58 0.55 0.28 0.4996 0.3578 0.5575 0.5858 0.5776 0.5405 0.4933 0.3026 0.48 0.35 0.55 0.43 . rs4268525 COSN8407244 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5058 0.3555 0.5562 0.5096 0.5846 0.5780 0.5404 0.5230 0.2999 0.5018 0.3637 0.5609 0.5033 0.6032 0.5741 0.5488 0.5368 het 1691.24 135 11 124121199 . G C 1691.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.574;DP=135;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4788;MQ=58.05;MQ0=0;MQRankSum=-1.138;QD=12.53;ReadPosRankSum=0.834;VQSLOD=4.5206;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,65:135:99:1721,0,1876 11 124134743 124134743 G A exonic OR8G5 synonymous SNV OR8G5:NM_001005198:exon1:c.G21A:p.G7G 0.44 0.29 0.56 0.58 0.55 0.28 0.5407 0.3762 0.6022 0.6063 0.6011 0.5782 0.5328 0.3682 0.48 0.34 0.55 0.45 . rs2466637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4997 0.3296 0.5517 0.5069 0.5796 0.5757 0.5350 0.5178 0.2967 0.4967 0.3433 0.5598 0.5033 0.6035 0.5748 0.5498 0.5368 het 321.43 26 11 124134743 . G A 321.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.877;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.38;MQ0=0;MQRankSum=-0.129;QD=12.36;ReadPosRankSum=-0.746;VQSLOD=6.9757;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,14:26:99:351,0,328 11 124135438 124135438 G A exonic OR8G5 nonsynonymous SNV OR8G5:NM_001005198:exon1:c.G716A:p.G239E 0.44 0.29 0.56 0.58 0.55 0.28 0.4975 0.3368 0.5564 0.5845 0.5776 0.5401 0.4922 0.3024 0.48 0.33 0.55 0.45 . rs2512167 . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.355 0.913 M . . . . . . 0.085 0.080 . . . . . . . . . 0.433 0.136 6.897 0.702 0.089 0.042 0.095 N n -0.199 -0.160 0.000 0.012 0.054 0.004 0 -3.2 0.048 -2.321 0.012 -3.905 0.001 0.000 0.063 0.000 0.016 1.954 0.031 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000110002.11|ENSG00000255298.2|ENSG00000197849.4|ENSG00000255298.2|ENSG00000255425.3 Artery_Aorta|Esophagus_Muscularis|Lung|Testis|Testis 0.5042 0.3336 0.5547 0.5098 0.5846 0.5781 0.5402 0.5212 0.2997 0.4964 0.3428 0.5598 0.5033 0.6022 0.5741 0.5499 0.5356 het 2711.20 199 11 124135438 . G A 2711.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.586;DP=199;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5830;MQ=59.28;MQ0=0;MQRankSum=1.075;QD=13.62;ReadPosRankSum=0.671;VQSLOD=6.5166;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,99:199:99:2741,0,2968 11 124135481 124135481 C T exonic OR8G5 synonymous SNV OR8G5:NM_001005198:exon1:c.C759T:p.Y253Y 0.44 0.29 0.56 0.58 0.55 0.28 0.4975 0.3368 0.5564 0.5845 0.5777 0.5401 0.4922 0.3025 0.48 0.34 0.55 0.45 . rs2466701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5042 0.3336 0.5548 0.5098 0.5845 0.5780 0.5403 0.5213 0.2998 0.4967 0.3429 0.5585 0.5033 0.6006 0.5741 0.5506 0.5356 het 2783.44 245 11 124135481 . C T 2783.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.163;DP=245;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4316;MQ=58.75;MQ0=0;MQRankSum=1.532;QD=11.36;ReadPosRankSum=0.521;VQSLOD=5.3436;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,110:245:99:2813,0,3779 11 124179835 124179835 C T exonic OR8D1 synonymous SNV OR8D1:NM_001002917:exon1:c.G828A:p.V276V 0.29 0.16 0.34 0.42 0.41 0.16 0.3554 0.2003 0.3336 0.4338 0.4317 0.3889 0.3838 0.1918 0.33 0.21 0.39 0.29 0.33 rs4936918 COSM3998297 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3524 0.1989 0.3375 0.3532 0.4381 0.4335 0.3843 0.3672 0.1817 0.3486 0.2123 0.3589 0.3675 0.4660 0.4412 0.3901 0.3890 het 1611.72 123 11 124179835 . C T 1611.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.823;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.32;MQ0=0;MQRankSum=0.888;QD=13.10;ReadPosRankSum=0.605;VQSLOD=7.0986;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,60:123:99:1642,0,1876 11 124180082 124180082 A G exonic OR8D1 nonsynonymous SNV OR8D1:NM_001002917:exon1:c.T581C:p.L194P 0.29 0.15 0.35 0.42 0.41 0.16 0.3452 0.1934 0.3338 0.4347 0.4318 0.3887 0.3624 0.1910 0.33 0.2 0.39 0.29 0.33 rs4936919 COSM3998298 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.004 0.654 D 0.961 0.535 D 0.866 0.598 P 0.097 0.200 U 1.000 0.182 P 1.865 0.494 L 8.4 0.003 T -3.91 0.730 D 0.25 0.305 -0.986 0.336 T 0.000 0.000 T . . . 3.060 0.428 22.4 0.988 0.466 0.038 0.090 N c -0.469 -0.679 0.000 0.053 0.487 0.133 0 1.92 0.248 -0.024 0.123 0.998 0.613 0.000 0.063 0.013 0.120 2.616 0.046 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000110002.11|ENSG00000255298.2|ENSG00000255425.3 Artery_Aorta|Testis|Testis 0.3507 0.1895 0.3413 0.3654 0.4417 0.4383 0.3862 0.3705 0.1905 0.3457 0.2027 0.3561 0.3675 0.4633 0.4416 0.3904 0.3878 het 1294.90 78 11 124180082 . A G 1294.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.047;DP=78;Dels=0.00;FS=12.123;HRun=2;HaplotypeScore=1.9248;MQ=60.00;MQ0=0;MQRankSum=0.172;QD=16.60;ReadPosRankSum=0.630;VQSLOD=4.1104;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,50:78:99:1325,0,708 11 124180282 124180282 A C exonic OR8D1 nonsynonymous SNV OR8D1:NM_001002917:exon1:c.T381G:p.C127W 0.27 0.089 0.34 0.42 0.41 0.16 0.3387 0.1327 0.3317 0.4332 0.4303 0.3876 0.3619 0.1913 0.31 0.14 0.39 0.27 0.33 rs7107539 COSM3998299 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.001 0.401 U 0.621 0.308 P 3.63 0.941 H 3.2 0.073 T -10.78 0.992 D 0.281 0.340 -0.998 0.305 T 0.000 0.000 T . . . 3.100 0.432 22.5 0.983 0.400 0.052 0.109 N c -0.253 -0.631 0.002 0.090 0.487 0.133 0 -3.22 0.048 -1.147 0.033 0.105 0.201 0.000 0.063 0.358 0.247 14.372 0.663 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000110002.11|ENSG00000255298.2|ENSG00000255425.3 Artery_Aorta|Testis|Testis 0.3459 0.1296 0.3388 0.3656 0.4406 0.4377 0.3853 0.3695 0.1902 0.3276 0.1419 0.3508 0.3675 0.4634 0.4416 0.3891 0.3822 het 690.54 61 11 124180282 . A C 690.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.404;DP=61;Dels=0.00;FS=9.224;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.122;QD=11.32;ReadPosRankSum=-0.066;VQSLOD=4.3757;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,25:61:99:721,0,975 11 124266912 124266912 A G exonic OR8B3 synonymous SNV OR8B3:NM_001005467:exon1:c.T336C:p.C112C 0.87 0.9 0.83 0.86 0.84 0.91 0.8222 0.8103 0.8147 0.8589 0.8401 0.8157 0.8394 0.8339 . . . 0.74 0.8 rs28398895 COSM4145442 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8260 0.8403 0.8150 0.8288 0.8693 0.8362 0.8136 0.8285 0.8425 0.8514 0.8779 0.8422 0.8690 0.8795 0.8676 0.8295 0.8525 hom 2684.78 87 11 124266912 . A G 2684.78 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.291;DP=87;Dels=0.00;FS=2.473;HRun=0;HaplotypeScore=2.9800;MQ=51.39;MQ0=0;MQRankSum=2.873;QD=30.86;ReadPosRankSum=1.849;VQSLOD=3.0368;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:3,84:87:99:2718,143,0 11 124310622 124310622 A G exonic OR8B8 synonymous SNV OR8B8:NM_012378:exon1:c.T360C:p.Y120Y 0.25 0.03 0.33 0.53 0.26 0.18 0.2875 0.0636 0.4072 0.5370 0.3084 0.2938 0.2854 0.1809 0.22 0.068 0.29 0.18 0.32 rs4296049 COSM3752195 1(haematopoietic_and_lymphoid_tissue);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2992 0.0582 0.4094 0.3080 0.5368 0.3147 0.2912 0.2896 0.1829 0.2503 0.0665 0.4055 0.3179 0.5287 0.3197 0.2994 0.2831 het 2045.97 150 11 124310622 . A G 2045.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.002;DP=150;Dels=0.00;FS=2.893;HRun=0;HaplotypeScore=5.2214;MQ=59.04;MQ0=0;MQRankSum=0.483;QD=13.64;ReadPosRankSum=-0.671;VQSLOD=5.0468;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,76:150:99:2076,0,2029 11 124744005 124744005 C T exonic ROBO3 synonymous SNV ROBO3:NM_022370:exon12:c.C1824T:p.G608G 0.061 0.031 0.035 0.02 0.071 0.15 0.0680 0.0352 0.0230 0.0182 0.1113 0.0665 0.0568 0.1343 0.053 0.034 0.062 0.065 . rs77513537 COSM1317361;COSM1317362 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Likely benign Gaze_palsy\x2c_familial_horizontal\x2c_with_progressive_scoliosis RCV000319624.1 MedGen:OMIM:Orphanet C1846496:607313:ORPHA2744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0658 0.0331 0.0225 0.0327 0.0191 0.1127 0.0666 0.0579 0.1305 0.0604 0.0348 0.0371 0.0497 0.0136 0.1116 0.0687 0.0786 het 2388.22 214 11 124744005 . C T 2388.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.797;DP=214;DS;Dels=0.00;FS=2.579;HRun=0;HaplotypeScore=5.4077;MQ=59.37;MQ0=0;MQRankSum=2.172;QD=11.16;ReadPosRankSum=0.407;VQSLOD=4.3819;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:123,90:214:99:2418,0,3145 11 124747837 124747837 G A exonic ROBO3 synonymous SNV ROBO3:NM_022370:exon21:c.G2991A:p.A997A 0.63 0.86 0.5 0.43 0.69 0.57 0.6785 0.8523 0.5116 0.5047 0.6999 0.7147 0.6497 0.6058 0.73 0.83 0.68 0.79 . rs7933204 . . Benign Gaze_palsy\x2c_familial_horizontal\x2c_with_progressive_scoliosis RCV000317716.1 MedGen:OMIM:Orphanet C1846496:607313:ORPHA2744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6198 0.8398 0.4235 0.6424 0.4162 0.6717 0.6864 0.6354 0.5781 0.7078 0.8333 0.4844 0.6821 0.4201 0.6783 0.6876 0.6759 hom 347.01 11 11 124747837 . G A 347.01 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.55;VQSLOD=13.3350;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:380,30,0 11 124756406 124756406 G A exonic ROBO4 synonymous SNV ROBO4:NM_001301088:exon16:c.C2313T:p.S771S,ROBO4:NM_019055:exon16:c.C2748T:p.S916S 0.23 0.48 0.12 0.088 0.16 0.2 0.1734 0.4254 0.0912 0.0846 0.2327 0.1490 0.1523 0.1949 0.23 0.4 0.14 0.33 0.057 rs7104934 COSM4145450 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1649 0.4243 0.0950 0.1378 0.0862 0.2300 0.1448 0.1577 0.1926 0.2248 0.4132 0.1136 0.1623 0.0771 0.2324 0.1403 0.1752 het 1037.24 91 11 124756406 . G A 1037.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.155;DP=91;Dels=0.00;FS=2.813;HRun=3;HaplotypeScore=1.8136;MQ=58.80;MQ0=0;MQRankSum=0.842;QD=11.40;ReadPosRankSum=-0.738;VQSLOD=6.3747;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,41:91:99:1067,0,1299 11 124766128 124766128 A G exonic ROBO4 synonymous SNV ROBO4:NM_001301088:exon4:c.T210C:p.H70H,ROBO4:NM_019055:exon4:c.T645C:p.H215H 0.5 0.82 0.29 0.45 0.33 0.42 0.3849 0.7475 0.2606 0.4243 0.4066 0.3320 0.3998 0.4266 0.45 0.72 0.31 0.62 0.24 rs4078313 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3723 0.7555 0.2645 0.3395 0.4178 0.4035 0.3269 0.3630 0.4283 0.4547 0.7355 0.2859 0.3967 0.4161 0.4077 0.3231 0.3615 het 2009.43 127 11 124766128 . A G 2009.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.738;DP=127;Dels=0.00;FS=0.678;HRun=0;HaplotypeScore=4.3256;MQ=59.82;MQ0=0;MQRankSum=-0.421;QD=15.82;ReadPosRankSum=0.650;VQSLOD=5.5083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,71:127:99:2039,0,1414 11 124789755 124789755 T C exonic HEPN1 nonsynonymous SNV HEPN1:NM_001037558:exon1:c.T109C:p.W37R 0.8 0.88 0.65 0.92 0.73 0.75 0.7371 0.8715 0.6022 0.9122 0.7749 0.7109 0.7327 0.7515 0.75 0.87 0.7 0.77 0.7 rs3802904 COSM4145452 1(thyroid) Benign Megalencephalic_leukoencephalopathy_with_subcortical_cysts RCV000404367.1 MedGen CN176898 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 0.43 0.568 T 1.42 0.008 N 0.076 0.067 -1.026 0.216 T 0.000 0.000 T . . . -1.314 0.022 0.004 0.440 0.033 0.001 0.009 N c -1.481 -1.509 0.001 0.077 0.598 0.340 0 0.858 0.181 -0.357 0.076 -3.502 0.001 0.000 0.063 0.000 0.016 9.300 0.368 . ENSG00000154134.10|ENSG00000154134.10|ENSG00000154134.10 Cells_Transformed_fibroblasts|Colon_Transverse|Nerve_Tibial 0.7310 0.8672 0.6162 0.6321 0.9114 0.7788 0.7126 0.7166 0.7522 0.7731 0.8607 0.6444 0.6225 0.8931 0.7710 0.7211 0.7546 het 1788.02 132 11 124789755 . T C 1788.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.560;DP=132;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;MQRankSum=2.416;QD=13.55;ReadPosRankSum=-0.822;VQSLOD=5.1960;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,69:132:99:1818,0,1619 11 124793682 124793682 T C exonic HEPACAM nonsynonymous SNV HEPACAM:NM_152722:exon3:c.A652G:p.M218V 0.79 0.89 0.64 0.91 0.72 0.74 0.7286 0.8832 0.5890 0.8923 0.7648 0.6993 0.7225 0.7473 0.75 0.88 0.69 0.76 0.7 rs10790715 . . Benign|Benign not_specified|Megalencephalic_leukoencephalopathy_with_subcortical_cysts RCV000247602.1|RCV000348422.1 MedGen|MedGen CN169374|CN176898 . . . . . . 0.831 0.029 T 0.0 0.026 B 0.001 0.040 B 0.117 0.192 N 1.000 0.090 P -0.47 0.027 N 2.73 0.119 T -0.24 0.108 N 0.011 0.001 -0.977 0.358 T 0.000 0.000 T . . . -0.454 0.058 0.286 0.824 0.137 0.375 0.256 N c -0.853 -0.637 0.000 0.058 0.497 0.185 0 2.24 0.271 0.220 0.173 -0.376 0.066 0.720 0.286 0.871 0.364 3.587 0.075 Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000154134.10|ENSG00000154134.10 Cells_Transformed_fibroblasts|Nerve_Tibial 0.7217 0.8792 0.6066 0.6393 0.8911 0.7691 0.7002 0.7035 0.7469 0.7658 0.8740 0.6337 0.6258 0.8758 0.7590 0.7041 0.7454 het 1165.77 118 11 124793682 . T C 1165.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.150;DP=118;Dels=0.00;FS=2.392;HRun=0;HaplotypeScore=3.4308;MQ=59.59;MQ0=0;MQRankSum=0.022;QD=9.88;ReadPosRankSum=-0.652;VQSLOD=6.0565;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,51:118:99:1196,0,1782 11 124793716 124793716 G A exonic HEPACAM synonymous SNV HEPACAM:NM_152722:exon3:c.C618T:p.R206R 0.14 0.11 0.15 0.071 0.26 0.1 0.2041 0.1261 0.1113 0.0893 0.2324 0.2658 0.2091 0.1180 0.22 0.14 0.27 0.13 0.25 rs10790716 COSM3752205 1(large_intestine) Benign|Benign not_specified|Megalencephalic_leukoencephalopathy_with_subcortical_cysts RCV000244240.1|RCV000405459.1 MedGen|MedGen CN169374|CN176898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1987 0.1220 0.1175 0.1459 0.0880 0.2330 0.2699 0.2050 0.1199 0.2174 0.1293 0.1388 0.1755 0.0742 0.2353 0.2828 0.2531 het 1302.14 104 11 124793716 . G A 1302.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.294;DP=104;Dels=0.00;FS=3.776;HRun=0;HaplotypeScore=1.4450;MQ=59.78;MQ0=0;MQRankSum=-1.752;QD=12.52;ReadPosRankSum=-0.142;VQSLOD=5.6819;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,50:104:99:1332,0,1417 11 124955032 124955032 T C exonic SLC37A2 synonymous SNV SLC37A2:NM_001145290:exon14:c.T1245C:p.D415D,SLC37A2:NM_198277:exon14:c.T1245C:p.D415D 0.67 0.95 0.51 0.46 0.62 0.64 0.6113 0.9027 0.4433 0.4607 0.5833 0.6095 0.5870 0.6439 0.71 0.89 0.62 0.76 0.52 rs948268 COSM4145457;COSM4145456 1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5997 0.9050 0.4580 0.6390 0.4630 0.5791 0.6096 0.6168 0.6426 0.6652 0.8955 0.4618 0.65 0.4876 0.5790 0.5853 0.6148 hom 4463.74 136 11 124955032 . T C 4463.74 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6170;MQ=58.80;MQ0=0;QD=32.82;VQSLOD=9.1765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4463,349,0 11 125351472 125351472 A T exonic FEZ1 nonsynonymous SNV FEZ1:NM_005103:exon3:c.T369A:p.D123E 0.14 0.23 0.12 0.064 0.19 0.072 0.1565 0.2152 0.1081 0.0627 0.2247 0.1823 0.1564 0.0710 0.2 0.22 0.19 0.24 0.18 rs597570 COSM3752217 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.4 0.105 T 0.425 0.336 B 0.192 0.348 B 0.040 0.240 N 0.005 0.424 P 1.61 0.413 L 1.56 0.296 T 0.17 0.051 N 0.083 0.118 -1.006 0.280 T 0.000 0.000 T . . . 0.668 0.158 8.616 0.982 0.389 0.816 0.407 D c -0.306 -0.173 0.920 0.266 0.742 0.980 0 3.0 0.336 2.299 0.430 0.080 0.190 1.000 0.715 0.999 0.750 9.188 0.362 . ENSG00000149557.8 Brain_Cerebellum 0.1544 0.2142 0.1086 0.1593 0.0642 0.2291 0.1811 0.1614 0.0715 0.1893 0.2273 0.1301 0.1689 0.0618 0.2295 0.1756 0.1830 het 2748.39 227 11 125351472 . A T 2748.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.097;DP=227;Dels=0.00;FS=0.487;HRun=1;HaplotypeScore=8.1621;MQ=59.33;MQ0=0;MQRankSum=1.676;QD=12.11;ReadPosRankSum=-1.319;VQSLOD=3.4346;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,109:227:99:2778,0,2728 11 125452300 125452300 - C exonic EI24 frameshift insertion EI24:NM_001330419:exon10:c.733dupC:p.W246Lfs*18 1. 1. 1. 1. 1. 1. 0.9999 1 0.9999 1 0.9998 0.9999 1 0.9997 1. 1. 1. . . rs55912941 COSM4603370;COSM4603371 22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9999 0.9999 1 1 1 0.9999 0.9998 0.9998 1 1 1 1 1 1 1 1 hom 1207.30 31 11 125452300 . A AC 1207.30 Mask AC=2;AF=1.00;AN=2;DP=31;FS=0.000;HRun=3;HaplotypeScore=160.7434;MQ=58.02;MQ0=0;QD=38.95;set=variant2 GT:AD:DP:GQ:PL 1/1:1,30:31:90.30:1249,90,0 11 125452313 125452313 A G exonic EI24 nonsynonymous SNV EI24:NM_001330419:exon11:c.A745G:p.I249V 0.34 0.38 0.26 0.3 0.37 0.36 0.4124 0.4447 0.3054 0.3802 0.4414 0.4301 0.3997 0.3896 0.36 0.37 0.35 0.3 . rs4627097 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.588 P . . . . . . . . . 0.021 0.464 -0.949 0.412 T 0.000 0.000 T . . . 0.866 0.177 9.866 0.680 0.083 0.026 0.070 N c -1.042 -1.222 0.871 0.254 0.563 0.310 0 -7.71 0.011 -1.507 0.024 -0.814 0.031 0.000 0.063 0.987 0.523 6.621 0.219 . ENSG00000149557.8|ENSG00000149547.10|ENSG00000149557.8 Artery_Aorta|Esophagus_Muscularis|Testis 0.3334 0.3779 0.2068 0.3517 0.2941 0.3826 0.3585 0.3424 0.3378 0.3510 0.3689 0.2263 0.2947 0.3213 0.3753 0.3463 0.3513 hom 840.30 32 11 125452313 . A G 840.30 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.34;MQ0=0;QD=26.26;VQSLOD=6.7514;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:66.20:873,66,0 11 125465862 125465862 T C exonic STT3A synonymous SNV STT3A:NM_152713:exon2:c.T52C:p.L18L,STT3A:NM_001278503:exon3:c.T52C:p.L18L 0.1 0.24 0.062 0.031 0.075 0.053 0.0745 0.2256 0.0458 0.0195 0.0463 0.0721 0.0672 0.0496 0.12 0.21 0.068 0.16 0.09 rs10082632 . . Benign not_specified RCV000425807.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0683 0.2232 0.0425 0.0793 0.0239 0.0450 0.0700 0.0857 0.0486 0.1024 0.2198 0.0406 0.0795 0.0216 0.0490 0.0614 0.0682 het 1697.45 155 11 125465862 . T C 1697.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.626;DP=155;Dels=0.00;FS=0.614;HRun=0;HaplotypeScore=6.2251;MQ=59.31;MQ0=0;MQRankSum=-1.278;QD=10.95;ReadPosRankSum=1.645;VQSLOD=4.0570;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,70:155:99:1727,0,2208 11 125476252 125476252 C G exonic STT3A synonymous SNV STT3A:NM_001278504:exon7:c.C396G:p.L132L,STT3A:NM_152713:exon8:c.C672G:p.L224L,STT3A:NM_001278503:exon9:c.C672G:p.L224L 0.1 0.24 0.06 0.031 0.072 0.053 0.0740 0.2242 0.0459 0.0194 0.0461 0.0714 0.0661 0.0498 0.12 0.21 0.067 0.15 0.082 rs34964592 . . Benign not_specified RCV000443997.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0680 0.2219 0.0426 0.0789 0.0238 0.0449 0.0693 0.0859 0.0492 0.1006 0.2187 0.0382 0.0795 0.0216 0.0487 0.0591 0.0643 het 3165.57 223 11 125476252 . C G 3165.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.435;DP=223;Dels=0.00;FS=6.441;HRun=1;HaplotypeScore=3.6127;MQ=59.04;MQ0=0;MQRankSum=-0.416;QD=14.20;ReadPosRankSum=-0.094;VQSLOD=4.2817;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,111:223:99:3196,0,2748 11 125479363 125479363 G A exonic STT3A synonymous SNV STT3A:NM_001278504:exon9:c.G720A:p.S240S,STT3A:NM_152713:exon10:c.G996A:p.S332S,STT3A:NM_001278503:exon11:c.G996A:p.S332S 0.42 0.52 0.28 0.43 0.38 0.41 0.3694 0.5091 0.2281 0.4319 0.3323 0.3649 0.3775 0.3804 0.41 0.5 0.37 0.4 0.43 rs2241502 . . Benign not_specified RCV000426935.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3592 0.5071 0.2264 0.3823 0.4398 0.3301 0.3638 0.3701 0.3792 0.3903 0.4916 0.2350 0.3046 0.4428 0.3245 0.3537 0.3571 hom 6411.59 216 11 125479363 . G A 6411.59 Mask AC=2;AF=1.00;AN=2;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3560;MQ=59.17;MQ0=0;QD=29.68;VQSLOD=8.3852;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6411,509,0 11 125488404 125488404 C T exonic STT3A synonymous SNV STT3A:NM_001278504:exon15:c.C1635T:p.C545C,STT3A:NM_152713:exon16:c.C1911T:p.C637C,STT3A:NM_001278503:exon17:c.C1911T:p.C637C 0.11 0.27 0.062 0.031 0.074 0.053 0.0763 0.2479 0.0470 0.0195 0.0460 0.0717 0.0694 0.0496 0.12 0.23 0.067 0.15 0.09 rs17140116 COSM3998312 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000419405.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0699 0.2463 0.0438 0.0794 0.0241 0.0450 0.0695 0.0879 0.0490 0.1072 0.2404 0.0408 0.0795 0.0216 0.0490 0.0596 0.0663 het 1776.02 183 11 125488404 . C T 1776.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.310;DP=183;Dels=0.00;FS=1.874;HRun=0;HaplotypeScore=0.9967;MQ=57.43;MQ0=0;MQRankSum=-0.865;QD=9.71;ReadPosRankSum=0.580;VQSLOD=4.3737;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,78:183:99:1806,0,2875 11 125525195 125525195 A G exonic CHEK1 nonsynonymous SNV CHEK1:NM_001244846:exon12:c.A1309G:p.I437V,CHEK1:NM_001330427:exon12:c.A1459G:p.I487V,CHEK1:NM_001330428:exon12:c.A1129G:p.I377V,CHEK1:NM_001114121:exon13:c.A1411G:p.I471V,CHEK1:NM_001114122:exon13:c.A1411G:p.I471V,CHEK1:NM_001274:exon13:c.A1411G:p.I471V 0.99 1. 0.97 1. 0.97 0.98 0.9726 0.9951 0.9849 0.9997 0.9646 0.9623 0.9559 0.9812 0.97 0.99 0.96 0.98 0.91 rs506504 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.425 N 1.000 0.090 P -1.155 0.009 N -0.5 0.707 T 0.38 0.036 N 0.037 0.039 -0.951 0.408 T 0.000 0.000 T . . . -0.257 0.072 0.830 0.526 0.047 0.128 0.173 N c -0.900 -0.642 0.015 0.127 0.707 0.730 0 1.8 0.240 1.211 0.318 -0.223 0.096 1.000 0.715 0.993 0.574 2.296 0.039 . . . 0.9729 0.9952 0.9843 0.9650 0.9996 0.9660 0.9627 0.9680 0.9798 0.9774 0.9928 0.9761 0.9603 1 0.9694 0.9683 0.9776 hom 1895.78 69 11 125525195 . A G 1895.78 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6320;MQ=58.76;MQ0=0;QD=27.48;VQSLOD=7.5981;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:1929,150,0 11 125547869 125547869 C T exonic ACRV1 nonsynonymous SNV ACRV1:NM_001612:exon2:c.G376A:p.G126R,ACRV1:NM_020069:exon2:c.G376A:p.G126R,ACRV1:NM_020107:exon3:c.G211A:p.G71R,ACRV1:NM_020108:exon3:c.G166A:p.G56R 0.062 0.13 0.048 0.002 0.071 0.037 0.0615 0.1213 0.0385 0.0005 0.0460 0.0709 0.0562 0.0403 0.083 0.11 0.067 0.12 0.082 rs34788353 . . . . . . . . . . . . . 0.061 0.469 T 0.02 0.657 B 0.016 0.663 B 0.182 0.171 N 1.000 0.213 P 1.935 0.520 L 2.01 0.213 T -4.09 0.748 D 0.073 0.171 -1.050 0.145 T 0.002 0.006 T . . . 1.968 0.297 16.01 0.694 0.087 0.107 0.159 N c -1.077 -1.175 0.000 0.044 0.372 0.050 0 -0.493 0.114 -0.582 0.059 -1.036 0.021 0.000 0.063 0.001 0.043 8.327 0.311 . ENSG00000134910.8|ENSG00000149554.8|ENSG00000149554.8 Adipose_Subcutaneous|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic 0.0576 0.1199 0.0368 0.0779 0.0007 0.0450 0.0687 0.0789 0.0395 0.0722 0.1214 0.0334 0.08 0.0025 0.0489 0.0594 0.0612 het 4539.40 245 11 125547869 . C T 4539.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.042;DP=245;DS;Dels=0.00;FS=4.427;HRun=0;HaplotypeScore=5.2661;MQ=59.22;MQ0=0;MQRankSum=-0.964;QD=18.53;ReadPosRankSum=-0.429;VQSLOD=3.6110;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,131:245:99:3876,0,2937 11 125617610 125617610 A G exonic PATE1 nonsynonymous SNV PATE1:NM_138294:exon4:c.A140G:p.Q47R 0.34 0.38 0.22 0.44 0.29 0.31 0.2967 0.3797 0.1805 0.4273 0.2794 0.2846 0.3128 0.3126 0.32 0.38 0.29 0.25 0.34 rs2114084 . . . . . . . . . . . . . 0.05 0.395 D 0.992 0.715 D 0.876 0.646 P 0.060 0.223 N 0.957 0.263 P 1.04 0.263 L 1.37 0.342 T -1.7 0.404 N 0.294 0.354 -0.934 0.435 T 0.000 0.000 T . . . 2.332 0.342 18.38 0.985 0.418 0.318 0.242 N c 0.077 -0.029 0.002 0.093 0.487 0.133 0 4.19 0.485 1.873 0.390 1.088 0.866 0.499 0.267 0.797 0.335 9.922 0.404 . . . 0.2908 0.3807 0.1812 0.3078 0.4338 0.2746 0.2849 0.2827 0.3141 0.3116 0.3764 0.1926 0.2351 0.4338 0.2692 0.2806 0.2867 het 2161.62 178 11 125617610 . A G 2161.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.876;DP=178;Dels=0.00;FS=3.438;HRun=1;HaplotypeScore=4.1575;MQ=58.34;MQ0=0;MQRankSum=1.148;QD=12.14;ReadPosRankSum=0.281;VQSLOD=5.3707;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,86:178:99:2192,0,2418 11 125647286 125647286 C T exonic PATE2 synonymous SNV PATE2:NM_212555:exon4:c.G333A:p.E111E 0.06 0.099 0.029 0.002 0.064 0.084 0.0568 0.0911 0.0248 0.0007 0.0427 0.0591 0.0507 0.0837 0.07 0.092 0.059 0.087 0.082 rs76476146 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0533 0.0901 0.0251 0.0377 0.0016 0.0416 0.0599 0.0622 0.0830 0.0584 0.0898 0.0227 0.0265 0.0019 0.0450 0.0521 0.0560 het 1297.27 124 11 125647286 . C T 1297.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.455;DP=124;Dels=0.00;FS=8.312;HRun=1;HaplotypeScore=6.5866;MQ=58.83;MQ0=0;MQRankSum=0.404;QD=10.46;ReadPosRankSum=-0.318;VQSLOD=4.1225;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,53:124:99:1327,0,1947 11 125766044 125766044 C A exonic PUS3 nonsynonymous SNV PUS3:NM_031307:exon2:c.G136T:p.A46S 0.64 0.61 0.6 0.7 0.67 0.61 0.6684 0.6202 0.5922 0.7320 0.7100 0.6779 0.6795 0.6634 0.66 0.63 0.68 0.66 0.63 rs549990 COSM1127862 1(prostate) . . . . . . . . . . . 1.0 0.021 T 0.0 0.026 B 0.0 0.013 B 0.257 0.154 N 1 0.090 P -2.135 0.001 N 1.49 0.551 T 0.71 0.021 N 0.056 0.065 -0.939 0.429 T 0.000 0.000 T . . . -1.172 0.026 0.007 0.650 0.074 0.020 0.060 N c -1.159 -0.988 0.998 0.361 0.732 0.924 0 3.91 0.442 0.496 0.220 0.194 0.250 0.000 0.063 0.012 0.117 2.141 0.035 . ENSG00000263906.1|ENSG00000109832.8|ENSG00000254967.2 Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.6663 0.6220 0.5931 0.6886 0.7238 0.7085 0.6747 0.6624 0.6688 0.6749 0.6299 0.5789 0.6854 0.7299 0.7136 0.6913 0.6731 het 4056.78 248 11 125766044 . C A 4056.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.546;DP=248;DS;Dels=0.00;FS=0.466;HRun=0;HaplotypeScore=7.4786;MQ=59.30;MQ0=0;MQRankSum=-0.461;QD=16.36;ReadPosRankSum=0.395;VQSLOD=4.3410;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,137:248:99:3490,0,2752 11 125766173 125766173 A C exonic PUS3 nonsynonymous SNV PUS3:NM_031307:exon2:c.T7G:p.Y3D 0.8 0.63 0.89 0.85 0.86 0.86 0.8580 0.6677 0.9237 0.8925 0.8523 0.8708 0.8451 0.8646 0.8 0.68 0.87 0.75 0.88 rs622756 . . . . . . . . . . . . . 0.618 0.100 T 0.0 0.026 B 0.0 0.013 B 0.026 0.260 N 1.000 0.588 P 0 0.065 N 1.58 0.542 T 0.86 0.031 N 0.016 0.130 -0.985 0.339 T 0.000 0.000 T . . . -0.816 0.039 0.039 0.623 0.067 0.042 0.096 N c -0.666 -0.456 1.000 0.517 0.732 0.924 0 5.02 0.666 1.095 0.304 0.067 0.174 0.969 0.340 0.980 0.490 4.119 0.095 . ENSG00000110060.4|ENSG00000110060.4|ENSG00000109832.8 Adipose_Subcutaneous|Artery_Tibial|Ovary 0.8630 0.6655 0.9258 0.8705 0.8840 0.8493 0.8704 0.8437 0.8653 0.8173 0.6768 0.9200 0.8609 0.8881 0.8472 0.8755 0.8493 het 1185.40 96 11 125766173 . A C 1185.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.622;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=59.32;MQ0=0;MQRankSum=-0.556;QD=12.35;ReadPosRankSum=0.052;VQSLOD=6.6661;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,41:96:99:1215,0,1533 11 125830970 125830970 A T exonic CDON nonsynonymous SNV CDON:NM_001243597:exon20:c.T3731A:p.I1244N,CDON:NM_016952:exon20:c.T3662A:p.I1221N . . . . . . 0.7310 0.8423 0.7918 0.9191 0.6929 0.6856 0.7313 0.7180 0.73 0.83 0.68 0.81 0.55 rs684535 . . Benign|Benign not_specified|Holoprosencephaly RCV000254270.1|RCV000287810.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.175 0.172 N 1.000 0.090 P -2.05 0.002 N -0.03 0.659 T 2.46 0.003 N 0.052 0.150 -0.950 0.410 T 0.000 0.000 T . . . -0.119 0.083 1.592 0.481 0.039 0.015 0.050 N c -1.218 -0.999 0.229 0.184 0.732 0.924 0 4.34 0.511 0.447 0.213 0.088 0.194 0.754 0.289 0.018 0.130 3.138 0.060 . ENSG00000064309.10|ENSG00000254967.2 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic 0.7310 0.8435 0.7844 0.7281 0.9244 0.6812 0.6826 0.7254 0.7220 0.7411 0.8439 0.7792 0.7318 0.9321 0.6754 0.6769 0.6939 het 1379.11 106 11 125830970 . A T 1379.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.507;DP=106;Dels=0.00;FS=4.003;HRun=1;HaplotypeScore=2.4602;MQ=59.35;MQ0=0;MQRankSum=1.340;QD=13.01;ReadPosRankSum=-0.840;VQSLOD=5.7323;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,53:106:99:1409,0,1417 11 125851055 125851055 A G exonic CDON synonymous SNV CDON:NM_001243597:exon17:c.T3165C:p.N1055N,CDON:NM_016952:exon17:c.T3165C:p.N1055N 0.27 0.5 0.22 0.067 0.26 0.21 0.2582 0.4620 0.1928 0.0852 0.2930 0.2662 0.2434 0.2203 0.33 0.46 0.27 0.36 0.25 rs564214 COSM3998315 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Holoprosencephaly RCV000243699.1|RCV000368917.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2564 0.4666 0.2029 0.3337 0.0805 0.3027 0.2655 0.2455 0.2192 0.3157 0.4586 0.2014 0.3444 0.0755 0.3005 0.2703 0.2806 het 1440.92 122 11 125851055 . A G 1440.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.374;DP=122;Dels=0.00;FS=1.456;HRun=0;HaplotypeScore=6.2285;MQ=59.12;MQ0=0;MQRankSum=0.516;QD=11.81;ReadPosRankSum=-1.782;VQSLOD=4.6643;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,59:122:99:1471,0,1662 11 125851181 125851181 G A exonic CDON synonymous SNV CDON:NM_001243597:exon17:c.C3039T:p.N1013N,CDON:NM_016952:exon17:c.C3039T:p.N1013N 0.27 0.5 0.22 0.066 0.26 0.21 0.2582 0.4621 0.1937 0.0854 0.2928 0.2663 0.2434 0.2201 0.33 0.46 0.27 0.36 0.26 rs684805 COSM3998316 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Holoprosencephaly RCV000251705.1|RCV000365454.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2564 0.4663 0.2035 0.3337 0.0805 0.3024 0.2656 0.2457 0.2190 0.3161 0.4593 0.2010 0.3467 0.0755 0.3007 0.2709 0.2791 het 1416.34 119 11 125851181 . G A 1416.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.592;DP=119;Dels=0.00;FS=2.359;HRun=0;HaplotypeScore=0.8321;MQ=59.49;MQ0=0;MQRankSum=1.300;QD=11.90;ReadPosRankSum=0.019;VQSLOD=6.7077;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1446,0,1616 11 125871715 125871715 G A exonic CDON nonsynonymous SNV CDON:NM_001243597:exon11:c.C2057T:p.A686V,CDON:NM_016952:exon11:c.C2057T:p.A686V 0.11 0.063 0.15 0.055 0.19 0.13 0.1631 0.0892 0.1497 0.0765 0.2118 0.1894 0.1564 0.1393 0.16 0.1 0.19 0.065 0.2 rs12274923 . . Benign|Likely benign not_specified|Holoprosencephaly RCV000247746.1|RCV000373562.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . 0.082 0.416 T 0.947 0.548 P 0.654 0.577 P 0.002 0.376 N 0.126 0.356 P 2.32 0.666 M -0.48 0.704 T -0.22 0.140 N 0.046 0.172 -1.093 0.051 T 0.000 0.001 T . . . 1.297 0.220 12.25 0.998 0.853 0.834 0.422 D c -0.236 -0.284 0.036 0.142 0.651 0.465 0 2.78 0.316 1.533 0.354 0.076 0.183 0.954 0.330 0.513 0.273 10.766 0.453 . ENSG00000264299.1 Lung 0.1671 0.0888 0.1567 0.2146 0.0715 0.2199 0.1891 0.1657 0.1379 0.1571 0.0855 0.1516 0.1722 0.0675 0.2210 0.1926 0.1731 het 699.10 81 11 125871715 . G A 699.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.052;DP=81;Dels=0.00;FS=1.935;HRun=0;HaplotypeScore=0.8321;MQ=59.54;MQ0=0;MQRankSum=1.328;QD=8.63;ReadPosRankSum=-0.014;VQSLOD=6.0425;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,32:81:99:729,0,1399 11 125871735 125871735 C T exonic CDON synonymous SNV CDON:NM_001243597:exon11:c.G2037A:p.A679A,CDON:NM_016952:exon11:c.G2037A:p.A679A 0.3 0.4 0.34 0.16 0.34 0.25 0.3127 0.3742 0.3274 0.1924 0.3436 0.3254 0.2903 0.2641 0.35 0.39 0.32 0.3 0.3 rs516664 COSM147374 1(stomach);1(adrenal_gland) Benign|Benign not_specified|Holoprosencephaly RCV000243165.1|RCV000352649.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3181 0.3806 0.3437 0.3745 0.1886 0.3534 0.3248 0.3119 0.2646 0.3286 0.3686 0.3469 0.3675 0.1795 0.3486 0.3148 0.3292 het 767.87 77 11 125871735 . C T 767.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.971;DP=77;Dels=0.00;FS=1.909;HRun=0;HaplotypeScore=0.9933;MQ=59.27;MQ0=0;MQRankSum=-0.242;QD=9.97;ReadPosRankSum=-2.651;VQSLOD=5.1152;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,33:77:99:798,0,1103 11 125891269 125891269 C T exonic CDON nonsynonymous SNV CDON:NM_001243597:exon3:c.G223A:p.V75I,CDON:NM_016952:exon3:c.G223A:p.V75I 0.57 0.86 0.52 0.35 0.53 0.5 0.5573 0.8218 0.5006 0.3124 0.6333 0.5585 0.5540 0.5236 0.65 0.8 0.56 0.7 0.58 rs3740912 COSM147377 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Holoprosencephaly RCV000081795.5|RCV000403980.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0001360:CN001246 . . . . . . 0.792 0.077 T 0.0 0.067 B 0.003 0.149 B 0.321 0.143 N 1 0.090 P 0.645 0.161 N 1.08 0.394 T -0.28 0.136 N 0.077 0.126 -0.960 0.391 T 0.000 0.000 T . . . -0.550 0.053 0.165 0.196 0.007 0.117 0.166 N c -1.362 -1.252 0.000 0.057 0.638 0.428 0 1.84 0.242 1.222 0.319 -0.227 0.095 0.755 0.289 0.002 0.062 4.752 0.124 Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.5555 0.8219 0.5054 0.6121 0.3183 0.6367 0.5568 0.5555 0.5289 0.6357 0.8210 0.5538 0.6093 0.3190 0.6323 0.5715 0.5784 het 1222.25 109 11 125891269 . C T 1222.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.948;DP=109;Dels=0.00;FS=1.572;HRun=0;HaplotypeScore=3.4571;MQ=58.27;MQ0=0;MQRankSum=1.069;QD=11.21;ReadPosRankSum=1.020;VQSLOD=5.6370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,49:109:99:1252,0,1617 11 126162862 126162862 C T exonic TIRAP synonymous SNV TIRAP:NM_001318776:exon4:c.C558T:p.A186A,TIRAP:NM_001318777:exon4:c.C558T:p.A186A,TIRAP:NM_001039661:exon5:c.C558T:p.A186A,TIRAP:NM_148910:exon5:c.C558T:p.A186A 0.13 0.12 0.14 0.04 0.22 0.15 0.1835 0.1368 0.0921 0.0306 0.1943 0.2330 0.1734 0.1522 0.2 0.13 0.24 0.13 0.18 rs7932766 COSM3752226;COSM3752225 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1787 0.1285 0.0947 0.1819 0.0288 0.1863 0.2389 0.1888 0.1526 0.1910 0.1319 0.1181 0.1556 0.0271 0.2026 0.2443 0.2045 hom 1664.10 49 11 126162862 . C T 1664.10 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.96;VQSLOD=14.4335;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1697,129,0 11 126176578 126176578 G A exonic DCPS synonymous SNV DCPS:NM_001350236:exon2:c.G336A:p.Q112Q,DCPS:NM_014026:exon2:c.G315A:p.Q105Q 0.93 0.99 0.9 1. 0.8 0.94 0.8591 0.9702 0.9173 0.9998 0.8015 0.8049 0.8179 0.9187 0.86 0.97 0.81 0.91 0.85 rs637462 COSM4145485 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8604 0.9736 0.9144 0.8451 0.9997 0.7989 0.8060 0.8345 0.9183 0.8686 0.9707 0.9067 0.8411 1 0.8025 0.8120 0.8184 hom 2442.59 76 11 126176578 . G A 2442.59 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.14;MQ0=0;QD=32.14;VQSLOD=9.1442;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2476,196,0 11 126201403 126201403 T C exonic DCPS synonymous SNV DCPS:NM_001350236:exon3:c.T501C:p.N167N,DCPS:NM_014026:exon3:c.T480C:p.N160N 0.23 0.22 0.27 0.21 0.25 0.23 0.2418 0.2200 0.2907 0.1778 0.2343 0.2531 0.2208 0.2128 0.24 0.22 0.25 0.16 0.25 rs616360 COSM3998318 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2423 0.2179 0.2820 0.2545 0.1754 0.2311 0.2536 0.2408 0.2122 0.2422 0.2183 0.2590 0.22 0.1716 0.2428 0.2629 0.2444 hom 5256.14 160 11 126201403 . T C 5256.14 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6221;MQ=59.11;MQ0=0;QD=32.85;VQSLOD=9.1041;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5256,409,0 11 128781339 128781339 T C exonic KCNJ5 synonymous SNV KCNJ5:NM_000890:exon2:c.T171C:p.S57S 0.87 0.89 0.8 0.88 0.85 0.9 0.8436 0.8982 0.8065 0.8790 0.7900 0.8296 0.8256 0.8953 0.85 0.89 0.82 0.85 0.84 rs6590357 . . Benign|Benign|Benign not_specified|Romano-Ward_syndrome|Familial_hyperaldosteronism RCV000126421.4|RCV000307277.1|RCV000366690.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet CN169374|CN119492:20852007|CN229602:ORPHA235936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8400 0.9041 0.8139 0.8466 0.8801 0.7931 0.8274 0.8384 0.8920 0.8476 0.9048 0.8162 0.8179 0.8915 0.7991 0.8249 0.8218 hom 5873.93 179 11 128781339 . T C 5873.93 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2146;MQ=59.25;MQ0=0;QD=32.82;VQSLOD=6.0476;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,178:179:99:5873,481,0 11 128781978 128781978 T G exonic KCNJ5 synonymous SNV KCNJ5:NM_000890:exon2:c.T810G:p.L270L 0.87 0.88 0.8 0.88 0.85 0.9 0.8414 0.8897 0.8056 0.8791 0.7893 0.8277 0.8234 0.8940 0.84 0.88 0.82 0.85 0.85 rs7118824 . . Benign|Benign|Benign not_specified|Familial_hyperaldosteronism|Romano-Ward_syndrome RCV000126422.4|RCV000330341.1|RCV000389577.1 MedGen|MedGen:Orphanet|MedGen:SNOMED_CT CN169374|CN229602:ORPHA235936|CN119492:20852007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8381 0.8941 0.8135 0.8465 0.8800 0.7928 0.8250 0.8357 0.8909 0.8424 0.8930 0.8150 0.8167 0.8912 0.7990 0.8212 0.8203 hom 6968.72 202 11 128781978 . T G 6968.72 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=34.50;VQSLOD=9.1099;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:6968,545,0 11 128782002 128782002 T C exonic KCNJ5 synonymous SNV KCNJ5:NM_000890:exon2:c.T834C:p.H278H 0.87 0.88 0.8 0.88 0.85 0.9 0.8416 0.8925 0.8054 0.8790 0.7895 0.8276 0.8227 0.8941 0.84 0.89 0.82 0.85 0.85 rs7118833 . . Benign|Benign|Benign not_specified|Familial_hyperaldosteronism|Romano-Ward_syndrome RCV000126423.4|RCV000295128.1|RCV000345335.1 MedGen|MedGen:Orphanet|MedGen:SNOMED_CT CN169374|CN229602:ORPHA235936|CN119492:20852007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8383 0.8973 0.8135 0.8464 0.8799 0.7930 0.8248 0.8361 0.8911 0.8435 0.8970 0.8182 0.8167 0.8912 0.7991 0.8211 0.8193 hom 6364.49 205 11 128782002 . T C 6364.49 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9072;MQ=58.63;MQ0=0;QD=31.05;VQSLOD=6.2965;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,204:205:99:6363,529,0 11 128782012 128782012 C G exonic KCNJ5 nonsynonymous SNV KCNJ5:NM_000890:exon2:c.C844G:p.Q282E 0.99 1. 0.99 1. 0.98 1. 0.9865 0.9976 0.9975 1 0.9761 0.9791 0.9912 0.9986 0.99 1. 0.98 1. 0.97 rs7102584 COSM3812417 1(prostate) Benign|Benign|Benign not_specified|Romano-Ward_syndrome|Familial_hyperaldosteronism RCV000126424.4|RCV000291702.1|RCV000381382.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet CN169374|CN119492:20852007|CN229602:ORPHA235936 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.997 0.229 P -1.455 0.005 N -2.58 0.898 D 1.15 0.012 N 0.02 0.005 -0.907 0.473 T 0.000 0.000 T . . . 0.157 0.109 4.219 0.396 0.027 0.294 0.236 N c -0.705 -0.377 1.000 0.747 0.497 0.185 0 5.46 0.799 5.895 0.693 0.136 0.221 1.000 0.715 0.990 0.544 16.452 0.838 Immunoglobulin E-set|Potassium channel\x2c inwardly rectifying\x2c Kir\x2c cytoplasmic . . 0.9877 0.9976 0.9972 0.9978 0.9999 0.9792 0.9792 0.9880 0.9983 0.9849 0.9984 0.9940 1 1 0.9728 0.9776 0.9805 hom 6944.98 225 11 128782012 . C G 6944.98 Mask AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3351;MQ=58.87;MQ0=0;QD=30.87;VQSLOD=6.7722;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:6943,590,0 11 128842873 128842873 T C exonic ARHGAP32 synonymous SNV ARHGAP32:NM_014715:exon12:c.A2439G:p.E813E,ARHGAP32:NM_001142685:exon21:c.A3486G:p.E1162E 0.2 0.26 0.22 0.17 0.13 0.19 0.1784 0.2785 0.2581 0.1652 0.1541 0.1487 0.1380 0.1984 0.19 0.26 0.15 0.22 0.13 rs581258 COSM3998333;COSM3998332 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1755 0.2843 0.2480 0.1119 0.1607 0.1478 0.1470 0.1548 0.1981 0.1841 0.2837 0.2333 0.1 0.1580 0.1348 0.1420 0.1442 het 3986.73 242 11 128842873 . T C 3986.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.152;DP=242;Dels=0.00;FS=1.599;HRun=0;HaplotypeScore=6.0275;MQ=59.33;MQ0=0;MQRankSum=1.252;QD=16.47;ReadPosRankSum=0.515;VQSLOD=4.6772;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,120:242:99:3369,0,3302 11 129727255 129727255 G A exonic TMEM45B synonymous SNV TMEM45B:NM_138788:exon5:c.G618A:p.Q206Q,TMEM45B:NM_001331210:exon6:c.G618A:p.Q206Q,TMEM45B:NM_001331211:exon6:c.G618A:p.Q206Q,TMEM45B:NM_001331212:exon6:c.G618A:p.Q206Q 0.052 0.0015 0.029 0.0079 0.059 0.17 0.0539 0.0095 0.0351 0.0083 0.0206 0.0512 0.0672 0.1424 0.036 0.0086 0.05 0.033 0.066 rs78733006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0537 0.0087 0.0347 0.1101 0.0074 0.0214 0.0499 0.0600 0.1407 0.0275 0.0091 0.0358 0.0762 0.0056 0.0215 0.0402 0.0337 het 4044.67 231 11 129727255 . G A 4044.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.604;DP=231;DS;Dels=0.00;FS=8.134;HRun=2;HaplotypeScore=3.6646;MQ=59.42;MQ0=0;MQRankSum=0.214;QD=17.51;ReadPosRankSum=0.017;VQSLOD=3.6224;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,118:231:99:3415,0,3285 11 129746707 129746707 G T exonic NFRKB synonymous SNV NFRKB:NM_006165:exon15:c.C1731A:p.G577G,NFRKB:NM_001143835:exon17:c.C1656A:p.G552G 0.27 0.22 0.23 0.39 0.2 0.34 0.2206 0.2033 0.2767 0.3704 0.1894 0.1740 0.2417 0.3134 0.18 0.2 0.16 0.2 0.23 rs2229650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2223 0.1979 0.2765 0.2172 0.3711 0.1837 0.1710 0.2127 0.3090 0.1886 0.1977 0.2758 0.1987 0.3767 0.1901 0.1584 0.1773 het 1448.84 135 11 129746707 . G T 1448.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.462;DP=135;Dels=0.00;FS=3.185;HRun=0;HaplotypeScore=4.9164;MQ=58.28;MQ0=0;MQRankSum=-0.306;QD=10.73;ReadPosRankSum=-0.576;VQSLOD=4.9573;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,57:135:99:1479,0,2113 11 129754644 129754644 A G exonic NFRKB synonymous SNV NFRKB:NM_006165:exon5:c.T813C:p.T271T,NFRKB:NM_001143835:exon7:c.T738C:p.T246T 0.76 0.98 0.69 0.66 0.71 0.69 0.7313 0.9457 0.7146 0.6459 0.7136 0.7164 0.7203 0.7207 0.79 0.93 0.71 0.81 0.65 rs1131972 COSM5426517 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7251 0.9487 0.7150 0.8042 0.6468 0.7098 0.7079 0.7204 0.7176 0.7694 0.9380 0.7208 0.7914 0.6654 0.7103 0.7023 0.7098 hom 4342.31 145 11 129754644 . A G 4342.31 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=59.54;MQ0=0;QD=29.95;VQSLOD=8.2681;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4342,340,0 11 129754668 129754668 T C exonic NFRKB synonymous SNV NFRKB:NM_006165:exon5:c.A789G:p.T263T,NFRKB:NM_001143835:exon7:c.A714G:p.T238T 0.17 0.17 0.11 0.057 0.19 0.3 0.1705 0.1762 0.1179 0.0634 0.1171 0.1693 0.1938 0.2849 0.16 0.17 0.16 0.13 0.2 rs2303662 COSM5505333 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1653 0.1718 0.1210 0.2305 0.0656 0.1098 0.1665 0.1716 0.2800 0.1485 0.1682 0.1220 0.1921 0.0580 0.1217 0.1537 0.1469 het 1873.93 132 11 129754668 . T C 1873.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.242;DP=132;Dels=0.00;FS=0.679;HRun=0;HaplotypeScore=2.7292;MQ=59.12;MQ0=0;MQRankSum=2.218;QD=14.20;ReadPosRankSum=-0.555;VQSLOD=5.5792;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,76:132:99:1904,0,1385 11 129785594 129785594 G A exonic PRDM10 synonymous SNV PRDM10:NM_199439:exon12:c.C2229T:p.P743P,PRDM10:NM_199438:exon13:c.C2241T:p.P747P,PRDM10:NM_199437:exon16:c.C2487T:p.P829P,PRDM10:NM_020228:exon17:c.C2499T:p.P833P 0.23 0.12 0.29 0.16 0.32 0.31 0.2889 0.1536 0.2666 0.1439 0.3195 0.3250 0.3146 0.3067 0.27 0.16 0.32 0.22 0.29 rs3734073 COSM1352564 1(bone);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2909 0.1548 0.2642 0.3937 0.1413 0.3232 0.3224 0.3041 0.2988 0.2659 0.1521 0.2613 0.3907 0.1519 0.3239 0.3268 0.2955 hom 5313.73 163 11 129785594 . G A 5313.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.711;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4526;MQ=58.25;MQ0=0;MQRankSum=-0.107;QD=32.60;ReadPosRankSum=0.813;VQSLOD=7.4048;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,162:163:99:5313,418,0 11 129794950 129794950 T C exonic PRDM10 nonsynonymous SNV PRDM10:NM_199439:exon8:c.A1447G:p.T483A,PRDM10:NM_199438:exon9:c.A1459G:p.T487A,PRDM10:NM_199437:exon12:c.A1705G:p.T569A,PRDM10:NM_020228:exon13:c.A1717G:p.T573A 0.42 0.48 0.4 0.4 0.39 0.43 0.4158 0.4532 0.3936 0.3862 0.4157 0.4103 0.4361 0.4442 0.41 0.45 0.39 0.41 0.35 rs2241571 COSM5437798 1(oesophagus) . . . . . . . . . . . 0.48 0.116 T 0.0 0.090 B 0.001 0.121 B 0.029 0.255 N 1 0.090 P 0.155 0.089 N 3.22 0.070 T 0.09 0.070 N 0.007 0.011 -0.930 0.441 T 0.000 0.000 T . . . -0.024 0.091 2.362 0.759 0.109 0.049 0.105 N c -1.200 -1.119 0.002 0.088 0.706 0.609 0 0.816 0.178 -0.577 0.059 -0.320 0.077 0.003 0.159 0.684 0.306 6.264 0.200 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000151715.3 Pancreas 0.4158 0.4522 0.4046 0.4745 0.3722 0.4258 0.4062 0.4237 0.4417 0.4226 0.4461 0.4149 0.4669 0.3591 0.4326 0.4126 0.4314 hom 7962.91 246 11 129794950 . T C 7962.91 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.068;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4075;MQ=59.30;MQ0=0;MQRankSum=-0.870;QD=32.37;ReadPosRankSum=-0.106;VQSLOD=6.9884;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,244:246:99:7929,626,0 11 129801043 129801043 C T exonic PRDM10 synonymous SNV PRDM10:NM_199438:exon7:c.G1140A:p.Q380Q,PRDM10:NM_199439:exon7:c.G1140A:p.Q380Q,PRDM10:NM_020228:exon11:c.G1398A:p.Q466Q,PRDM10:NM_199437:exon11:c.G1398A:p.Q466Q 0.64 0.87 0.51 0.78 0.43 0.51 0.5190 0.8319 0.5252 0.7511 0.4579 0.4446 0.5177 0.5207 0.56 0.81 0.43 0.69 0.43 rs2277033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5142 0.8401 0.5288 0.5205 0.7441 0.4652 0.4392 0.4971 0.5160 0.5735 0.8252 0.5334 0.5167 0.7519 0.4682 0.4408 0.4949 hom 3656.36 108 11 129801043 . C T 3656.36 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6456;MQ=59.01;MQ0=0;QD=33.86;VQSLOD=9.8294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3656,283,0 11 130066335 130066335 C T exonic ST14 synonymous SNV ST14:NM_021978:exon10:c.C1215T:p.N405N 0.64 0.37 0.78 0.71 0.69 0.79 0.6905 0.4478 0.8350 0.7105 0.7809 0.6775 0.6815 0.7424 0.57 0.42 0.64 0.18 0.46 rs476106 COSM3752239 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6888 0.4102 0.8164 0.7173 0.6989 0.7682 0.6539 0.6921 0.7333 0.6177 0.4150 0.8007 0.7119 0.6973 0.7772 0.6706 0.7269 het 415.54 21 11 130066335 . C T 415.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.362;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-1.280;QD=19.79;ReadPosRankSum=0.041;VQSLOD=7.4287;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,16:21:87.71:446,0,88 11 130281488 130281488 G A exonic ADAMTS8 nonsynonymous SNV ADAMTS8:NM_007037:exon6:c.C1574T:p.A525V 0.74 0.7 0.8 0.83 0.77 0.64 0.7415 0.7075 0.8271 0.8013 0.7466 0.7511 0.73 0.6300 0.74 0.71 0.75 0.75 0.75 rs2131535 COSM3752245;COSM3752244;COSM3752243 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.206 P 0 0.065 N 0.33 0.583 T 2.93 0.002 N 0.044 0.024 -0.944 0.419 T 0.000 0.000 T . . . 1.654 0.260 14.15 0.207 0.008 0.028 0.074 N c -0.614 -0.354 1.000 0.747 0.635 0.413 0 5.87 0.942 5.808 0.686 0.202 0.252 1.000 0.715 0.272 0.232 8.254 0.307 . . . 0.7441 0.7064 0.8175 0.8375 0.8103 0.7447 0.7406 0.7537 0.6265 0.7390 0.7089 0.8270 0.8377 0.8152 0.7460 0.7410 0.7184 hom 2325.93 78 11 130281488 . G A 2325.93 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=29.82;VQSLOD=9.2141;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2359,199,0 11 130339312 130339312 T C exonic ADAMTS15 synonymous SNV ADAMTS15:NM_139055:exon5:c.T1698C:p.N566N 0.57 0.8 0.42 0.36 0.63 0.5 0.5798 0.7689 0.3167 0.3790 0.6016 0.6261 0.6024 0.5249 0.67 0.77 0.62 0.65 0.29 rs731446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5781 0.7681 0.2876 0.5551 0.3649 0.5920 0.6237 0.5865 0.5106 0.6416 0.7744 0.3911 0.5762 0.3590 0.6035 0.6210 0.6100 hom 1040.82 32 11 130339312 . T C 1040.82 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=32.53;VQSLOD=9.2027;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:84.25:1074,84,0 11 130750642 130750642 A C exonic SNX19 nonsynonymous SNV SNX19:NM_001347924:exon7:c.T653G:p.L218R,SNX19:NM_001347927:exon7:c.T353G:p.L118R,SNX19:NM_001347918:exon8:c.T2513G:p.L838R,SNX19:NM_001301089:exon9:c.T773G:p.L258R,SNX19:NM_001347923:exon9:c.T908G:p.L303R,SNX19:NM_014758:exon9:c.T2633G:p.L878R,SNX19:NM_001347922:exon10:c.T962G:p.L321R,SNX19:NM_001347925:exon10:c.T599G:p.L200R 0.81 0.94 0.78 0.7 0.74 0.86 0.7802 0.9188 0.7602 0.7041 0.8119 0.7542 0.7539 0.8406 0.81 0.92 0.75 0.84 0.81 rs2298566 COSM4145541 1(pancreas);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.021 0.268 N 1 0.090 P -1.67 0.004 N 1.63 0.280 T 2.76 0.002 N 0.12 0.159 -0.999 0.301 T 0.000 0.000 T . . . 0.335 0.126 6.024 0.382 0.025 0.002 0.012 N c -1.462 -1.293 0.987 0.312 0.707 0.730 0 0.075 0.136 -0.206 0.093 -0.305 0.080 0.001 0.137 0.752 0.322 7.438 0.262 Sorting nexin\x2c C-terminal ENSG00000255455.2|ENSG00000120451.6|ENSG00000120451.6|ENSG00000120451.6|ENSG00000255455.2|ENSG00000120451.6|ENSG00000255455.2|ENSG00000120451.6|ENSG00000255455.2|ENSG00000120451.6 Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal 0.7740 0.9192 0.7624 0.7176 0.7010 0.8101 0.7497 0.7596 0.8374 0.8035 0.9157 0.7315 0.6854 0.6821 0.8086 0.7567 0.7980 hom 4501.19 148 11 130750642 . A C 4501.19 Mask AC=2;AF=1.00;AN=2;DP=148;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3063;MQ=57.79;MQ0=0;QD=30.41;VQSLOD=6.7558;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4500,367,0 11 130776613 130776613 A G exonic SNX19 synonymous SNV SNX19:NM_001347924:exon4:c.T189C:p.S63S,SNX19:NM_001347918:exon5:c.T2049C:p.S683S,SNX19:NM_001301089:exon6:c.T309C:p.S103S,SNX19:NM_001347919:exon6:c.T2169C:p.S723S,SNX19:NM_001347920:exon6:c.T2169C:p.S723S,SNX19:NM_001347921:exon6:c.T2169C:p.S723S,SNX19:NM_001347923:exon6:c.T444C:p.S148S,SNX19:NM_001347926:exon6:c.T309C:p.S103S,SNX19:NM_014758:exon6:c.T2169C:p.S723S,SNX19:NM_001347922:exon7:c.T498C:p.S166S,SNX19:NM_001347925:exon7:c.T135C:p.S45S 0.66 0.55 0.69 0.65 0.64 0.83 0.6795 0.5627 0.7075 0.6470 0.6873 0.6649 0.6531 0.8076 0.63 0.57 0.66 0.7 0.68 rs4373936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6801 0.5603 0.7094 0.6307 0.6460 0.6885 0.6627 0.6656 0.8018 0.6385 0.5618 0.6687 0.5927 0.6289 0.6853 0.6690 0.6933 het 896.90 83 11 130776613 . A G 896.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DP=83;Dels=0.00;FS=2.110;HRun=1;HaplotypeScore=0.0000;MQ=58.02;MQ0=0;MQRankSum=1.116;QD=10.81;ReadPosRankSum=-0.933;VQSLOD=4.7772;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,36:83:99:927,0,1188 11 130780015 130780015 C T exonic SNX19 synonymous SNV SNX19:NM_001301089:exon4:c.G72A:p.P24P,SNX19:NM_001347919:exon4:c.G1932A:p.P644P,SNX19:NM_001347920:exon4:c.G1932A:p.P644P,SNX19:NM_001347921:exon4:c.G1932A:p.P644P,SNX19:NM_001347923:exon4:c.G207A:p.P69P,SNX19:NM_001347926:exon4:c.G72A:p.P24P,SNX19:NM_014758:exon4:c.G1932A:p.P644P,SNX19:NM_001347922:exon5:c.G261A:p.P87P 0.58 0.24 0.67 0.64 0.63 0.83 0.6553 0.3046 0.6952 0.6464 0.6883 0.6636 0.6377 0.8068 0.55 0.32 0.66 0.56 0.68 rs1781 COSM3998338 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6609 0.2968 0.6951 0.6288 0.6456 0.6899 0.6615 0.6532 0.8014 0.5637 0.2998 0.6563 0.59 0.6295 0.6866 0.6681 0.6752 het 2296.08 176 11 130780015 . C T 2296.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.642;DP=176;Dels=0.00;FS=1.210;HRun=0;HaplotypeScore=6.7225;MQ=59.53;MQ0=0;MQRankSum=-0.432;QD=13.05;ReadPosRankSum=-0.224;VQSLOD=4.4730;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,82:176:99:2326,0,2392 11 130780225 130780225 C A exonic SNX19 nonsynonymous SNV SNX19:NM_001347918:exon3:c.G1854T:p.L618F,SNX19:NM_001347919:exon3:c.G1854T:p.L618F,SNX19:NM_001347920:exon3:c.G1854T:p.L618F,SNX19:NM_001347921:exon3:c.G1854T:p.L618F,SNX19:NM_001347923:exon3:c.G129T:p.L43F,SNX19:NM_014758:exon3:c.G1854T:p.L618F,SNX19:NM_001347922:exon4:c.G183T:p.L61F . . . . . . 1 1 1 1 1 1 1 1 . . . 1. 0.95 rs681982 COSM4591206 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.810 P -1.91 0.002 N 1.6 0.286 T 2.46 0.003 N 0.102 0.313 -0.970 0.371 T 0.000 0.000 T . . . 1.426 0.234 12.92 0.386 0.026 0.290 0.235 N c -0.839 -0.548 1.000 0.480 0.507 0.198 0 3.63 0.406 1.928 0.395 -0.116 0.114 1.000 0.715 0.997 0.653 6.829 0.229 Phox homologous domain . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1992.18 64 11 130780225 . C A 1992.18 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.57;MQ0=0;QD=31.13;VQSLOD=8.1081;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2025,159,0 11 130784754 130784754 C G exonic SNX19 nonsynonymous SNV SNX19:NM_001347918:exon1:c.G1081C:p.V361L,SNX19:NM_001347919:exon1:c.G1081C:p.V361L,SNX19:NM_001347920:exon1:c.G1081C:p.V361L,SNX19:NM_001347921:exon1:c.G1081C:p.V361L,SNX19:NM_014758:exon1:c.G1081C:p.V361L 0.73 0.68 0.74 0.68 0.72 0.85 0.7443 0.6822 0.7400 0.6917 0.8054 0.7333 0.7214 0.8348 0.71 0.68 0.73 0.74 0.75 rs3751037 COSM3998341 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.486 0.081 T 0.0 0.026 B 0.0 0.013 B 0.692 0.061 N 1 0.090 P 0 0.065 N 2.4 0.156 T -0.22 0.107 N 0.013 0.011 -0.996 0.311 T 0.000 0.000 T . . . -1.077 0.029 0.011 0.597 0.061 0.082 0.140 N c -1.480 -1.445 1.000 0.415 0.722 0.854 0 -0.511 0.113 -0.259 0.087 -0.220 0.097 0.000 0.063 0.883 0.370 1.135 0.016 . ENSG00000120451.6|ENSG00000120451.6|ENSG00000255455.2|ENSG00000120451.6|ENSG00000255455.2|ENSG00000120451.6 Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal 0.7421 0.6834 0.7408 0.6625 0.6891 0.8034 0.7295 0.7317 0.8308 0.7230 0.6764 0.7074 0.6233 0.6685 0.7978 0.7379 0.7761 hom 2284.25 67 11 130784754 . C G 2284.25 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=34.09;VQSLOD=9.4982;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2317,181,0 11 130784971 130784971 C G exonic SNX19 synonymous SNV SNX19:NM_001347918:exon1:c.G864C:p.P288P,SNX19:NM_001347919:exon1:c.G864C:p.P288P,SNX19:NM_001347920:exon1:c.G864C:p.P288P,SNX19:NM_001347921:exon1:c.G864C:p.P288P,SNX19:NM_014758:exon1:c.G864C:p.P288P 0.8 0.91 0.77 0.68 0.72 0.85 0.7677 0.8881 0.7543 0.6945 0.8052 0.7403 0.7373 0.8371 0.78 0.88 0.73 0.83 0.81 rs3751036 COSM3998342 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7622 0.8906 0.7565 0.7147 0.6895 0.8038 0.7342 0.7520 0.8334 0.7854 0.8852 0.7339 0.6854 0.6714 0.7990 0.7407 0.7947 hom 6135.67 178 11 130784971 . C G 6135.67 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.8292;MQ=59.24;MQ0=0;QD=34.47;VQSLOD=4.0293;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:6135,481,0 11 132177633 132177633 A C exonic NTM synonymous SNV NTM:NM_001144058:exon4:c.A577C:p.R193R,NTM:NM_001144059:exon4:c.A577C:p.R193R,NTM:NM_016522:exon4:c.A577C:p.R193R,NTM:NM_001048209:exon5:c.A577C:p.R193R 0.88 0.91 0.9 0.93 0.82 0.84 0.8463 0.9020 0.9352 0.9255 0.8351 0.8249 0.8348 0.7992 0.85 0.91 0.83 0.94 0.91 rs2305271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8494 0.9041 0.9274 0.7748 0.9240 0.8376 0.8302 0.8382 0.7995 0.8599 0.9074 0.9057 0.81 0.9088 0.8392 0.8316 0.8388 het 1252.75 119 11 132177633 . A C 1252.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.889;DP=119;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.1465;MQ=59.81;MQ0=0;MQRankSum=0.333;QD=10.53;ReadPosRankSum=-0.921;VQSLOD=4.5300;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,52:119:99:1283,0,1831 11 133714522 133714522 G A exonic SPATA19 nonsynonymous SNV SPATA19:NM_001291992:exon3:c.C149T:p.A50V,SPATA19:NM_174927:exon3:c.C149T:p.A50V 0.34 0.1 0.32 0.6 0.39 0.35 0.3825 0.1520 0.3295 0.6005 0.4717 0.3933 0.3883 0.3689 0.3 0.17 0.37 0.27 0.38 rs2282602 COSM5006744 1(breast);1(large_intestine) . . . . . . . . . . . 0.075 0.344 T 0.999 0.764 D 0.994 0.807 D 0.000 0.559 D 0.025 0.392 P 1.495 0.376 L 0.45 0.565 T -3.55 0.687 D 0.363 0.424 -0.879 0.498 T 0.000 0.000 T . . . 6.278 0.867 29.0 0.999 0.955 0.774 0.377 D c 0.527 0.523 0.101 0.164 0.487 0.133 0 5.02 0.666 3.271 0.511 1.048 0.713 1.000 0.715 0.945 0.419 14.193 0.650 . . . 0.3791 0.1451 0.3220 0.3928 0.6055 0.4727 0.3821 0.3961 0.3444 0.3411 0.1473 0.3289 0.3278 0.6117 0.4489 0.3971 0.3937 het 1393.37 128 11 133714522 . G A 1393.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.389;DP=128;Dels=0.00;FS=2.355;HRun=2;HaplotypeScore=1.9985;MQ=58.90;MQ0=0;MQRankSum=0.932;QD=10.89;ReadPosRankSum=-0.002;VQSLOD=6.5960;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,58:128:99:1423,0,1870 11 133805585 133805585 C T exonic IGSF9B synonymous SNV IGSF9B:NM_001277285:exon7:c.G894A:p.S298S 0.3 0.14 0.33 0.33 0.43 0.32 0.3992 0.2022 0.3122 0.3289 0.5696 0.4474 0.4245 0.3454 0.34 0.2 0.41 0.29 . rs329637 COSM428723 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3844 0.1780 0.3082 0.3526 0.3190 0.5487 0.4326 0.3980 0.3247 0.3676 0.1758 0.3158 0.3212 0.3134 0.5407 0.4437 0.4439 het 257.48 22 11 133805585 . C T 257.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.538;DP=22;Dels=0.00;FS=3.821;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.534;QD=11.70;ReadPosRankSum=0.935;VQSLOD=6.2812;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,9:22:99:287,0,316 11 133814191 133814191 A G exonic IGSF9B synonymous SNV IGSF9B:NM_001277285:exon3:c.T333C:p.Y111Y 0.49 0.26 0.54 0.4 0.71 0.62 0.6232 0.3156 0.4841 0.3778 0.7027 0.7173 0.6528 0.6162 0.6 0.36 0.72 0.52 . rs595986 COSM4145547 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6230 0.3080 0.5005 0.6723 0.3812 0.7091 0.7208 0.6514 0.6112 0.5698 0.3150 0.5406 0.6689 0.3770 0.7066 0.7015 0.6502 het 739.52 58 11 133814191 . A G 739.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.419;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=-0.608;QD=12.75;ReadPosRankSum=-0.546;VQSLOD=6.4199;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:770,0,727 11 133815981 133815981 C G exonic IGSF9B synonymous SNV IGSF9B:NM_001277285:exon2:c.G237C:p.P79P 0.35 0.3 0.44 0.52 0.3 0.25 0.3897 0.3442 0.5380 0.5821 0.3352 0.3551 0.3687 0.3538 0.29 0.27 0.3 0.28 . rs10894768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3308 0.2893 0.4739 0.3780 0.5358 0.2359 0.2914 0.3296 0.2672 0.3115 0.3017 0.4557 0.3967 0.5453 0.2464 0.2994 0.2812 het 437.84 31 11 133815981 . C G 437.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.052;DP=31;Dels=0.00;FS=1.415;HRun=3;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=-1.528;QD=14.12;ReadPosRankSum=-1.846;VQSLOD=4.5442;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,17:31:99:468,0,376 11 134128923 134128923 C G exonic ACAD8 nonsynonymous SNV ACAD8:NM_014384:exon5:c.C512G:p.S171C 0.0068 0.0023 0.014 . 0.02 0.001 0.0143 0.0055 0.0077 0 0.0148 0.0219 0.0143 0.0015 0.018 0.0086 0.022 0.011 0.033 rs113488591 . . Uncertain significance not_specified RCV000081621.4 MedGen CN169374 . . . . . . 0.001 0.784 D 0.999 0.899 D 0.964 0.736 D 0.000 0.843 D 1 0.810 D 2.73 0.801 M -5.46 0.991 D -3.54 0.703 D 0.445 0.628 0.685 0.930 D 0.959 0.987 D . . . 4.149 0.556 23.8 0.986 0.436 0.992 0.925 D c 0.698 0.633 1.000 0.747 0.707 0.730 0 4.82 0.615 5.806 0.686 0.935 0.490 1.000 0.715 0.837 0.349 14.765 0.691 Acyl-CoA dehydrogenase\x2c conserved site|Acyl-CoA dehydrogenase/oxidase\x2c N-terminal and middle domain|Acyl-CoA oxidase/dehydrogenase\x2c central domain;Acyl-CoA dehydrogenase/oxidase\x2c N-terminal|Acyl-CoA dehydrogenase/oxidase\x2c N-terminal and middle domain . . 0.0142 0.0042 0.0103 0.0051 0 0.0158 0.0227 0.0193 0.0013 0.0128 0.0041 0.0143 0 0 0.0129 0.0193 0.0143 het 1496.42 126 11 134128923 . C G 1496.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.794;DP=126;Dels=0.00;FS=13.121;HRun=0;HaplotypeScore=5.1605;MQ=59.10;MQ0=0;MQRankSum=-0.598;QD=11.88;ReadPosRankSum=0.069;VQSLOD=3.1296;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,57:126:99:1526,0,1815 11 134151975 134151975 G C exonic GLB1L3 nonsynonymous SNV GLB1L3:NM_001080407:exon5:c.G488C:p.R163P 0.91 0.98 0.86 0.81 0.99 0.87 0.9353 0.9771 0.7575 0.8038 0.9854 0.9846 0.9446 0.8793 . . . 0.92 . rs472287 COSM3931273;COSM3931274 1(urinary_tract);20(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.998 0.224 P -4.51 0.000 N -4.07 0.966 D 8.54 0.000 N 0.233 0.311 -0.845 0.523 T 0.000 0.000 T . . . 2.344 0.343 18.45 0.627 0.069 0.042 0.096 N c -1.090 -0.680 1.000 0.500 0.615 0.372 0 4.3 0.504 5.473 0.663 0.038 0.153 1.000 0.715 0.955 0.433 11.893 0.517 Glycoside hydrolase 35\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.9301 0.9772 0.7636 0.9730 0.8021 0.9861 0.9860 0.9388 0.8916 0.9665 0.9738 0.7876 0.9868 0.8224 0.9854 0.9832 0.9633 hom 644.31 28 11 134151975 . G C 644.31 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=43.43;MQ0=4;QD=23.01;VQSLOD=3.6399;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:51.16:677,51,0 11 134182375 134182375 G A exonic GLB1L3 nonsynonymous SNV GLB1L3:NM_001080407:exon14:c.G1420A:p.V474M 1. 1. 1. 1. 1. 1. 0.9982 1 0.9999 0.9962 0.9917 0.9983 0.9989 0.9993 1. 1. 1. 1. . rs2509062 COSM4145556;COSM4145555 1(thyroid) . . . . . . . . . . . 0.11 0.291 T 0.002 0.090 B 0.001 0.040 B 0.439 0.047 N 1 0.090 P -0.205 0.041 N -3.12 0.928 D 1.44 0.008 N 0.398 0.457 -0.943 0.421 T 0.000 0.000 T . . . -0.019 0.092 2.406 0.909 0.196 0.002 0.012 N c -1.743 -1.831 1.000 0.448 0.635 0.413 0 -8.0 0.010 -1.867 0.017 -0.193 0.103 0.000 0.063 0.001 0.043 4.747 0.123 . . . 0.9982 1 1.0000 0.9973 0.9952 0.9923 0.9990 0.9971 0.9991 0.9974 1 1 1 0.9975 0.9920 0.9973 0.9929 hom 2191.55 66 11 134182375 . G A 2191.55 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.65;MQ0=0;QD=33.21;VQSLOD=9.5825;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2225,181,0 11 134188542 134188542 T C exonic GLB1L3 synonymous SNV GLB1L3:NM_001080407:exon19:c.T1797C:p.F599F 0.39 0.43 0.37 0.29 0.53 0.32 0.5047 0.4674 0.3231 0.3319 0.5536 0.5794 0.5188 0.3904 0.53 0.46 0.56 0.33 . rs481252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4710 0.4426 0.2919 0.5976 0.3038 0.5434 0.5590 0.4823 0.3596 0.5042 0.4476 0.3369 0.6126 0.2862 0.5378 0.5590 0.5194 het 333.23 24 11 134188542 . T C 333.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.790;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=0.615;QD=13.88;ReadPosRankSum=-0.556;VQSLOD=6.9724;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,14:24:99:363,0,268 12 284058 284058 T C exonic IQSEC3 synonymous SNV IQSEC3:NM_001170738:exon14:c.T3408C:p.G1136G 0.92 0.95 0.95 0.85 0.95 0.92 0.9435 0.9462 0.9723 0.8582 0.9391 0.9582 0.9190 0.9149 0.95 0.96 0.95 0.55 . rs216230 COSM4146982 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9443 0.9465 0.9675 0.9302 0.8651 0.9438 0.9599 0.9307 0.9162 0.9512 0.9529 0.9558 0.9371 0.8796 0.9426 0.9604 0.9454 hom 320.53 11 12 284058 . T C 320.53 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;QD=29.14;VQSLOD=8.0704;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:354,27,0 12 311949 311949 A G exonic SLC6A12 synonymous SNV SLC6A12:NM_001206931:exon4:c.T447C:p.T149T,SLC6A12:NM_001122847:exon5:c.T447C:p.T149T,SLC6A12:NM_001122848:exon5:c.T447C:p.T149T,SLC6A12:NM_003044:exon6:c.T447C:p.T149T 0.62 0.77 0.59 0.63 0.46 0.57 0.5061 0.7164 0.5824 0.6427 0.4422 0.4402 0.4945 0.5412 0.53 0.7 0.44 0.53 0.49 rs216250 COSM4146989 1(breast);1(pancreas);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5047 0.7246 0.583 0.3778 0.6435 0.4429 0.4455 0.4770 0.5378 0.5422 0.7169 0.5764 0.4073 0.6332 0.4347 0.4609 0.4776 hom 4591.33 133 12 311949 . A G 4591.33 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.83;MQ0=0;QD=34.52;VQSLOD=9.7396;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4591,355,0 12 406292 406292 G A exonic KDM5A synonymous SNV KDM5A:NM_001042603:exon25:c.C4149T:p.S1383S 0.35 0.33 0.32 0.51 0.23 0.37 0.3104 0.3243 0.3701 0.5035 0.3442 0.2603 0.3069 0.3495 0.27 0.32 0.25 0.37 0.23 rs2229351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3114 0.3212 0.3570 0.2421 0.5007 0.3456 0.2578 0.2952 0.3454 0.3029 0.3108 0.3413 0.2715 0.5175 0.3369 0.2666 0.2918 het 758.17 68 12 406292 . G A 758.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.558;DP=68;Dels=0.00;FS=4.861;HRun=0;HaplotypeScore=1.6229;MQ=59.66;MQ0=0;MQRankSum=-0.592;QD=11.15;ReadPosRankSum=0.056;VQSLOD=5.9852;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,28:68:99:788,0,979 12 427575 427575 A G exonic KDM5A nonsynonymous SNV KDM5A:NM_001042603:exon19:c.T2594C:p.M865T 0.35 0.33 0.32 0.51 0.23 0.37 0.3102 0.3237 0.3687 0.5038 0.3441 0.2601 0.3056 0.3493 0.27 0.32 0.25 0.38 0.25 rs11062385 . . . . . . . . . . . . . 0.496 0.094 T 0.0 0.067 B 0.001 0.093 B 0.002 0.380 N 0.520 0.316 P 0.695 0.181 N 1.05 0.400 T 0.72 0.021 N 0.057 0.290 -0.915 0.462 T 0.000 0.000 T . . . 1.007 0.190 10.70 0.782 0.118 0.892 0.493 D c -0.457 -0.217 0.038 0.144 0.707 0.730 0 3.99 0.454 2.705 0.465 1.028 0.649 1.000 0.715 1.000 0.888 6.180 0.196 Lysine-specific demethylase-like domain ENSG00000120647.5|ENSG00000120647.5|ENSG00000120647.5|ENSG00000120647.5|ENSG00000073614.7|ENSG00000120647.5|ENSG00000120647.5|ENSG00000120647.5|ENSG00000120647.5|ENSG00000120647.5|ENSG00000120647.5|ENSG00000120647.5|ENSG00000073614.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.3122 0.3214 0.3569 0.2448 0.5008 0.3459 0.2581 0.2952 0.3456 0.3030 0.3112 0.3413 0.2748 0.5167 0.3379 0.2661 0.2930 het 1881.16 160 12 427575 . A G 1881.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.120;DP=160;Dels=0.00;FS=3.839;HRun=0;HaplotypeScore=4.9044;MQ=59.15;MQ0=0;MQRankSum=1.077;QD=11.76;ReadPosRankSum=1.511;VQSLOD=5.0128;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,75:160:99:1911,0,2149 12 657404 657404 G A exonic B4GALNT3 nonsynonymous SNV B4GALNT3:NM_173593:exon9:c.G794A:p.R265Q 0.18 0.15 0.13 0.17 0.25 0.2 0.2118 0.1683 0.1067 0.1833 0.2068 0.2405 0.2104 0.2135 0.21 0.17 0.23 0.16 0.32 rs11063529 COSM3753448 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.638 0.050 T 0.716 0.403 P 0.06 0.253 B 0.008 0.309 N 0.952 0.264 P 0.69 0.170 N 1.88 0.239 T -0.18 0.098 N 0.066 0.245 -0.954 0.404 T 0.000 0.000 T . . . 1.810 0.278 15.04 0.984 0.407 0.873 0.466 D c -0.458 -0.398 1.000 0.500 0.745 0.986 0 1.81 0.240 3.035 0.492 0.980 0.597 0.998 0.411 0.873 0.365 4.382 0.107 PA14 domain ENSG00000139044.6|ENSG00000139044.6|ENSG00000139044.6|ENSG00000139044.6|ENSG00000139044.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Spleen|Whole_Blood 0.2061 0.1674 0.1124 0.2115 0.1859 0.2034 0.2403 0.2058 0.2154 0.2070 0.1676 0.1325 0.23 0.1915 0.1910 0.2384 0.2173 het 1525.60 144 12 657404 . G A 1525.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.291;DP=144;Dels=0.00;FS=1.346;HRun=0;HaplotypeScore=0.9958;MQ=59.16;MQ0=0;MQRankSum=1.142;QD=10.59;ReadPosRankSum=0.105;VQSLOD=6.7237;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,64:144:99:1556,0,2003 12 661656 661656 A G exonic B4GALNT3 nonsynonymous SNV B4GALNT3:NM_173593:exon13:c.A1232G:p.K411R 0.27 0.3 0.23 0.17 0.33 0.3 0.2875 0.3267 0.1553 0.1852 0.2564 0.3165 0.3080 0.3036 0.31 0.33 0.31 0.26 0.36 rs7298766 COSM1741246 1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.069 0.355 T 0.911 0.484 P 0.382 0.421 B 0.014 0.288 N 0.301 0.334 P 2.42 0.702 M 2.95 0.460 T -2.07 0.526 N 0.185 0.226 -1.003 0.291 T 0.000 0.000 T . . . 2.572 0.370 19.93 0.997 0.830 0.842 0.430 D c 0.306 0.338 1.000 0.517 0.696 0.567 0 4.3 0.504 4.488 0.598 0.192 0.249 1.000 0.715 0.997 0.653 9.559 0.383 . ENSG00000139044.6|ENSG00000139044.6|ENSG00000139044.6|ENSG00000139044.6|ENSG00000139044.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Spleen|Whole_Blood 0.2771 0.3331 0.1609 0.3039 0.1874 0.2511 0.3128 0.2893 0.3047 0.2989 0.3329 0.2064 0.3233 0.1942 0.2428 0.3087 0.2904 het 1613.73 127 12 661656 . A G 1613.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.249;DP=127;Dels=0.00;FS=2.271;HRun=1;HaplotypeScore=3.2145;MQ=58.53;MQ0=1;MQRankSum=0.385;QD=12.71;ReadPosRankSum=-1.083;VQSLOD=5.8511;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,63:127:99:1644,0,1741 12 662448 662448 T C exonic B4GALNT3 synonymous SNV B4GALNT3:NM_173593:exon14:c.T1359C:p.L453L 0.85 0.94 0.8 0.9 0.66 0.9 0.7299 0.9044 0.8229 0.9069 0.6043 0.6462 0.7201 0.8501 0.73 0.91 0.65 0.8 0.73 rs758790 COSM3753450 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7268 0.9067 0.8132 0.6934 0.9008 0.6107 0.6428 0.7135 0.8471 0.7261 0.8988 0.8270 0.7550 0.8890 0.6037 0.6331 0.6776 het 2177.64 217 12 662448 . T C 2177.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.771;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4328;MQ=59.29;MQ0=2;MQRankSum=-2.477;QD=10.04;ReadPosRankSum=0.205;VQSLOD=4.7767;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:119,98:217:99:2208,0,3152 12 662838 662838 T C exonic B4GALNT3 synonymous SNV B4GALNT3:NM_173593:exon14:c.T1749C:p.P583P 0.28 0.38 0.19 0.2 0.29 0.3 0.2689 0.3823 0.1389 0.1944 0.2363 0.2800 0.2617 0.2980 0.3 0.37 0.26 0.26 0.3 rs1056008 COSM4147395 1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2573 0.3854 0.1444 0.2508 0.1967 0.2335 0.2769 0.2546 0.3 0.2907 0.3797 0.1751 0.2767 0.2032 0.2236 0.2726 0.2608 het 1093.64 87 12 662838 . T C 1093.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.849;DP=87;Dels=0.00;FS=0.824;HRun=4;HaplotypeScore=1.9132;MQ=60.00;MQ0=0;MQRankSum=-0.100;QD=12.57;ReadPosRankSum=1.190;VQSLOD=6.3456;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,40:87:99:1124,0,1391 12 862989 862989 T C exonic WNK1 synonymous SNV WNK1:NM_001184985:exon1:c.T258C:p.C86C,WNK1:NM_014823:exon1:c.T258C:p.C86C,WNK1:NM_018979:exon1:c.T258C:p.C86C,WNK1:NM_213655:exon1:c.T258C:p.C86C 0.98 0.91 0.99 1. 1. 1. 0.9924 0.9125 0.9973 0.9999 1 0.9999 0.9989 0.9999 0.97 0.92 1. 0.87 0.84 rs3168640 . . Benign|Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_type_2|Hereditary_sensory_and_autonomic_neuropathy_type_II RCV000246196.2|RCV000304597.1|RCV000391424.1 MedGen|Gene:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|7830:C1449844:145260:ORPHA757:15689008|C0020072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9942 0.9144 0.9974 1 0.9999 1 1.0000 0.9985 0.9999 0.9784 0.9240 0.9976 1 1 1 1 0.9949 hom 2520.22 83 12 862989 . T C 2520.22 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;QD=30.36;VQSLOD=8.4633;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2553,220,0 12 939302 939302 A G exonic WNK1 synonymous SNV WNK1:NM_001184985:exon4:c.A1287G:p.A429A,WNK1:NM_014823:exon4:c.A1287G:p.A429A,WNK1:NM_018979:exon4:c.A1287G:p.A429A,WNK1:NM_213655:exon4:c.A1287G:p.A429A 0.69 0.51 0.76 0.87 0.74 0.67 0.7451 0.5494 0.7726 0.8653 0.7984 0.7601 0.7434 0.7040 0.69 0.56 0.75 0.69 0.73 rs10774466 COSM5827326;COSM3753538 1(large_intestine) Benign|Benign|Benign not_specified|Hereditary_sensory_and_autonomic_neuropathy_type_II|Pseudohypoaldosteronism\x2c_type_2 RCV000243912.1|RCV000338242.1|RCV000374093.1 MedGen|MedGen|Gene:MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0020072|7830:C1449844:145260:ORPHA757:15689008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7496 0.5494 0.7692 0.6876 0.8670 0.8026 0.7594 0.7328 0.7107 0.7201 0.5713 0.7757 0.6689 0.8843 0.8041 0.7632 0.7796 hom 3210.01 105 12 939302 . A G 3210.01 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.47;MQ0=0;QD=30.57;VQSLOD=9.1182;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3243,253,0 12 968489 968489 T C exonic WNK1 synonymous SNV WNK1:NM_001184985:exon6:c.T1479C:p.D493D,WNK1:NM_014823:exon6:c.T1479C:p.D493D,WNK1:NM_018979:exon6:c.T1479C:p.D493D,WNK1:NM_213655:exon6:c.T1479C:p.D493D 0.093 0.038 0.069 0.068 0.17 0.13 0.1488 0.0466 0.0705 0.0672 0.2635 0.1694 0.2007 0.1767 0.12 0.047 0.15 0.043 0.13 rs2286006 COSM3753547;COSM5827330;COSM3753546 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_type_2|Hereditary_sensory_and_autonomic_neuropathy_type_II RCV000126337.2|RCV000312056.1|RCV000369034.1 MedGen|Gene:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|7830:C1449844:145260:ORPHA757:15689008|C0020072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1478 0.0476 0.0690 0.1563 0.0661 0.2711 0.1624 0.1616 0.1818 0.1335 0.0470 0.0658 0.1623 0.0713 0.2604 0.1618 0.1742 het 966.37 93 12 968489 . T C 966.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DP=93;Dels=0.00;FS=3.883;HRun=0;HaplotypeScore=6.9843;MQ=58.42;MQ0=0;MQRankSum=1.183;QD=10.39;ReadPosRankSum=1.432;VQSLOD=4.4359;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,40:93:99:996,0,1379 12 987482 987482 G A exonic WNK1 synonymous SNV WNK1:NM_014823:exon10:c.G2325A:p.Q775Q,WNK1:NM_018979:exon10:c.G2328A:p.Q776Q,WNK1:NM_001184985:exon11:c.G3567A:p.Q1189Q,WNK1:NM_213655:exon12:c.G3822A:p.Q1274Q 0.68 0.51 0.75 0.83 0.73 0.65 0.7340 0.5561 0.7671 0.8004 0.7982 0.7535 0.7357 0.6833 0.68 0.56 0.74 0.65 0.75 rs1012729 COSM3753549;COSM3753548;COSM5827335 1(large_intestine) Benign|Benign|Benign not_specified|Hereditary_sensory_and_autonomic_neuropathy_type_II|Pseudohypoaldosteronism\x2c_type_2 RCV000249177.1|RCV000265691.1|RCV000358053.1 MedGen|MedGen|Gene:MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0020072|7830:C1449844:145260:ORPHA757:15689008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7385 0.5568 0.7646 0.6834 0.8003 0.8031 0.7522 0.7237 0.6897 0.7141 0.5771 0.7715 0.6433 0.8181 0.8038 0.7559 0.7740 hom 2456.88 80 12 987482 . G A 2456.88 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2601;MQ=59.56;MQ0=0;QD=30.71;VQSLOD=8.2644;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:80:99:2490,208,0 12 988894 988894 G A exonic WNK1 synonymous SNV WNK1:NM_018979:exon11:c.G2529A:p.Q843Q 0.15 0.12 0.2 0.11 0.14 0.19 0.1542 0.1302 0.2079 0.0814 0.1087 0.1532 0.1366 0.1931 0.15 0.13 0.16 0.18 0.11 rs9804992 COSM5827337;COSM147388 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_type_2|Hereditary_sensory_and_autonomic_neuropathy_type_II RCV000254165.1|RCV000281228.1|RCV000405097.1 MedGen|Gene:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|7830:C1449844:145260:ORPHA757:15689008|C0020072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1572 0.1321 0.2106 0.1432 0.0829 0.1055 0.1570 0.1582 0.1956 0.1407 0.1256 0.2117 0.1333 0.0776 0.1065 0.1579 0.1811 het 2113.47 215 12 988894 . G A 2113.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.468;DP=215;Dels=0.00;FS=1.733;HRun=1;HaplotypeScore=2.4875;MQ=60.00;MQ0=0;MQRankSum=0.780;QD=9.83;ReadPosRankSum=0.615;VQSLOD=6.1564;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:133,82:215:99:2143,0,3661 12 990912 990912 A C exonic WNK1 nonsynonymous SNV WNK1:NM_014823:exon11:c.A2425C:p.T809P,WNK1:NM_001184985:exon13:c.A3946C:p.T1316P,WNK1:NM_018979:exon13:c.A3166C:p.T1056P,WNK1:NM_213655:exon13:c.A3922C:p.T1308P 0.85 0.86 0.87 0.82 0.84 0.88 0.8314 0.8624 0.8603 0.7978 0.7458 0.8348 0.7764 0.8328 0.85 0.86 0.85 0.9 0.84 rs956868 . . Benign|Benign|Benign not_specified|Hereditary_sensory_and_autonomic_neuropathy_type_II|Pseudohypoaldosteronism\x2c_type_2 RCV000251124.1|RCV000332623.1|RCV000368653.1 MedGen|MedGen|Gene:MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0020072|7830:C1449844:145260:ORPHA757:15689008 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.041 0.240 N 1.000 0.201 P -1.445 0.006 N 2.86 0.315 T 2.69 0.003 N 0.022 0.312 -1.004 0.286 T 0.000 0.000 T . . . -0.728 0.044 0.062 0.116 0.002 0.318 0.242 N c -1.056 -0.862 0.039 0.144 0.707 0.730 0 0.635 0.168 -0.069 0.114 -1.051 0.020 0.979 0.349 0.064 0.173 1.853 0.030 . . . 0.8317 0.8606 0.8651 0.8411 0.8087 0.7386 0.8407 0.8201 0.8281 0.8317 0.8503 0.8783 0.8212 0.8021 0.7460 0.8424 0.8194 het 1916.07 201 12 990912 . A C 1916.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.344;DP=201;Dels=0.00;FS=1.800;HRun=3;HaplotypeScore=3.6372;MQ=58.98;MQ0=0;MQRankSum=-1.342;QD=9.53;ReadPosRankSum=0.139;VQSLOD=4.6315;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:118,83:201:99:1946,0,2913 12 994487 994487 G C exonic WNK1 nonsynonymous SNV WNK1:NM_014823:exon17:c.G3776C:p.C1259S,WNK1:NM_001184985:exon19:c.G5297C:p.C1766S,WNK1:NM_018979:exon19:c.G4517C:p.C1506S,WNK1:NM_213655:exon19:c.G5273C:p.C1758S 0.99 0.95 1. 1. 1. 1. 0.9963 0.9613 0.9978 1 1 0.9999 0.9989 0.9998 0.99 0.96 1. 0.99 0.99 rs7955371 . . Benign|Benign|Benign not_specified|Hereditary_sensory_and_autonomic_neuropathy_type_II|Pseudohypoaldosteronism\x2c_type_2 RCV000246878.1|RCV000263201.1|RCV000318455.1 MedGen|MedGen|Gene:MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0020072|7830:C1449844:145260:ORPHA757:15689008 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.008 0.311 N 1 0.090 P -1.79 0.003 N -0.2 0.661 T 2.94 0.004 N 0.021 0.022 -0.954 0.404 T 0.000 0.000 T . . . -1.695 0.013 0.002 0.293 0.015 0.009 0.036 N c -1.178 -0.994 0.840 0.248 0.707 0.730 0 5.3 0.746 0.753 0.259 0.067 0.174 0.000 0.063 0.235 0.225 9.383 0.373 . . . 0.9969 0.9596 0.9971 0.9999 1 1 0.9998 0.9982 0.9999 0.9877 0.9570 0.9964 1 1 1 0.9998 0.9990 hom 8868.75 250 12 994487 . G C 8868.75 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5264;MQ=59.82;MQ0=0;QD=35.48;VQSLOD=8.9492;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8868,719,0 12 998365 998365 G T exonic WNK1 nonsynonymous SNV WNK1:NM_014823:exon19:c.G4683T:p.M1561I,WNK1:NM_001184985:exon21:c.G6204T:p.M2068I,WNK1:NM_018979:exon21:c.G5424T:p.M1808I,WNK1:NM_213655:exon21:c.G6180T:p.M2060I 0.42 0.55 0.32 0.28 0.39 0.48 0.3766 0.5160 0.2815 0.2799 0.2929 0.3724 0.3689 0.4569 0.43 0.51 0.39 0.48 0.32 rs12828016 COSM3753555;COSM5827339 1(thyroid);1(large_intestine) Benign|Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_type_2|Hereditary_sensory_and_autonomic_neuropathy_type_II RCV000250212.1|RCV000355246.1|RCV000394062.1 MedGen|Gene:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|7830:C1449844:145260:ORPHA757:15689008|C0020072 . . . . . . 0.207 0.198 T 0.0 0.026 B 0.0 0.013 B 0.005 0.332 N 1 0.090 P -0.69 0.019 N 1.71 0.267 T 0.19 0.050 N 0.009 0.015 -0.925 0.449 T 0.000 0.000 T . . . 1.329 0.224 12.42 0.886 0.176 0.080 0.138 N c -0.968 -0.844 0.061 0.152 0.732 0.924 0 2.16 0.265 -0.446 0.069 0.152 0.238 0.301 0.251 0.311 0.239 2.550 0.044 . ENSG00000002016.12 Thyroid 0.3703 0.5152 0.2890 0.4045 0.2806 0.2857 0.3794 0.3788 0.4526 0.3909 0.4944 0.2978 0.3967 0.2581 0.2836 0.3768 0.3643 het 1926.37 182 12 998365 . G T 1926.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.946;DP=182;Dels=0.00;FS=2.638;HRun=1;HaplotypeScore=2.2243;MQ=59.36;MQ0=0;MQRankSum=-0.718;QD=10.58;ReadPosRankSum=-0.927;VQSLOD=6.2375;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,87:182:99:1956,0,2491 12 1017197 1017197 C T exonic WNK1 synonymous SNV WNK1:NM_014823:exon25:c.C6084T:p.Y2028Y,WNK1:NM_001184985:exon27:c.C7608T:p.Y2536Y,WNK1:NM_018979:exon27:c.C6828T:p.Y2276Y,WNK1:NM_213655:exon27:c.C7584T:p.Y2528Y 0.99 0.95 1. 1. 1. 1. 0.9964 0.9615 0.9979 1 1 0.9999 0.9989 0.9998 0.99 0.96 1. 0.99 0.99 rs4766334 COSM4146469;COSM4146468 1(thyroid) Benign|Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_type_2|Hereditary_sensory_and_autonomic_neuropathy_type_II RCV000242168.1|RCV000267038.1|RCV000326897.1 MedGen|Gene:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|7830:C1449844:145260:ORPHA757:15689008|C0020072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9970 0.9607 0.9970 0.9999 1 1 0.9998 0.9980 0.9999 0.9884 0.9597 0.9952 1 1 1 0.9998 0.9990 hom 2396.68 73 12 1017197 . C T 2396.68 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=59.43;MQ0=0;QD=32.83;VQSLOD=9.7266;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2430,193,0 12 1137217 1137217 A G exonic ERC1 nonsynonymous SNV ERC1:NM_001301248:exon1:c.A148G:p.S50G,ERC1:NM_178039:exon2:c.A148G:p.S50G,ERC1:NM_178040:exon2:c.A148G:p.S50G 0.016 0.0015 0.03 . 0.044 0.013 0.0268 0.0067 0.0237 0 0.0076 0.0386 0.0352 0.0155 0.031 0.0084 0.043 0.033 0.057 rs35037408 . . . . . . . . . . . . . 0.325 0.153 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 0.936 0.371 D 0 0.065 N -2.35 0.881 D -0.37 0.132 N 0.039 0.083 -0.930 0.441 T 0.104 0.382 T . . . -0.082 0.086 1.870 0.926 0.215 0.771 0.376 D c -0.744 -0.541 0.112 0.167 0.719 0.830 0 -0.433 0.116 1.955 0.398 -0.583 0.045 0.998 0.411 0.981 0.494 9.979 0.408 . . . 0.0273 0.0063 0.0240 0.0648 5.798e-05 0.0077 0.0385 0.0396 0.0162 0.0200 0.0056 0.0203 0.0861 0 0.0089 0.0316 0.0235 het 1335.01 107 12 1137217 . A G 1335.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.758;DP=107;Dels=0.00;FS=11.051;HRun=1;HaplotypeScore=3.7152;MQ=59.22;MQ0=0;MQRankSum=0.147;QD=12.48;ReadPosRankSum=-0.328;VQSLOD=4.3809;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,50:107:99:1365,0,1739 12 1902905 1902905 G A exonic CACNA2D4 synonymous SNV CACNA2D4:NM_172364:exon38:c.C3330T:p.G1110G 0.12 0.12 0.25 0.077 0.1 0.099 0.1115 0.1326 0.2453 0.0526 0.1127 0.0881 0.0948 0.1291 0.097 0.12 0.086 0.043 . rs33912216 COSM3998728;COSM3998729 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Cone_dystrophy_3 RCV000177961.2|RCV000387209.1 MedGen|MedGen:OMIM CN169374|C1865869:602093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1143 0.1263 0.2327 0.0756 0.0534 0.1111 0.0858 0.1132 0.1294 0.1007 0.1108 0.2380 0.0833 0.0580 0.1116 0.0878 0.1276 het 335.05 48 12 1902905 . G A 335.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.225;DP=48;Dels=0.00;FS=1.376;HRun=0;HaplotypeScore=2.8464;MQ=59.52;MQ0=0;MQRankSum=-0.415;QD=6.98;ReadPosRankSum=-1.033;VQSLOD=5.0705;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,18:48:99:365,0,802 12 1910786 1910786 C T exonic CACNA2D4 nonsynonymous SNV CACNA2D4:NM_172364:exon30:c.G2746A:p.D916N 0.011 0.0015 0.019 . 0.031 0.0072 0.0395 0.0086 0.0402 0 0.0335 0.0567 0.0134 0.0214 0.019 0.0052 0.026 0.022 . rs62621429 . . Benign|Likely benign not_specified|Cone_dystrophy_3 RCV000245141.1|RCV000371354.1 MedGen|MedGen:OMIM CN169374|C1865869:602093 . . . . . . 0.487 0.682 T 0.973 0.556 D 0.848 0.588 P 0.000 0.513 N 0.999 0.463 D 2.43 0.707 M -1.64 0.825 D -2.27 0.506 N 0.132 0.152 -0.269 0.759 T 0.333 0.700 T . . . 3.012 0.422 22.3 0.998 0.880 0.966 0.698 D c 0.438 0.462 1.000 0.747 0.516 0.203 0 4.69 0.584 5.300 0.653 0.852 0.362 1.000 0.715 0.999 0.750 11.504 0.495 . . . 0.0226 0.0051 0.0165 0.0554 0 0.0187 0.0300 0.0269 0.0148 0.0200 0.0063 0.0191 0.0530 0 0.0195 0.0300 0.0163 het 306.72 28 12 1910786 . C T 306.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.553;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4535;MQ=57.81;MQ0=0;MQRankSum=0.737;QD=10.95;ReadPosRankSum=-0.276;VQSLOD=4.5386;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:337,0,393 12 1995403 1995403 T C exonic CACNA2D4 nonsynonymous SNV CACNA2D4:NM_172364:exon8:c.A979G:p.I327V 0.94 0.99 0.88 1. 0.85 0.92 0.9064 0.9808 0.8884 0.9994 0.8905 0.8869 0.8842 0.9126 0.92 0.98 0.89 0.95 . rs10735005 COSM4146942;COSM4146941 1(thyroid) Benign|Benign not_specified|Cone_dystrophy_3 RCV000244285.1|RCV000365597.1 MedGen|MedGen:OMIM CN169374|C1865869:602093 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.810 P -1.96 0.002 N 3.23 0.070 T 0.44 0.033 N 0.067 0.054 -0.957 0.398 T 0.000 0.000 T . . . 0.966 0.186 10.46 0.492 0.041 0.230 0.217 N c -0.816 -0.497 1.000 0.747 0.554 0.246 0 5.17 0.707 3.202 0.505 0.069 0.176 1.000 0.715 0.995 0.604 13.933 0.634 VWA N-terminal;von Willebrand factor\x2c type A . . 0.9031 0.9820 0.8898 0.8440 0.9989 0.8900 0.8881 0.8799 0.9120 0.9193 0.9785 0.8759 0.8377 0.9988 0.8858 0.8898 0.8945 het 1124.71 96 12 1995403 . T C 1124.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.081;DP=96;Dels=0.00;FS=2.720;HRun=0;HaplotypeScore=1.9552;MQ=59.37;MQ0=0;MQRankSum=-0.586;QD=11.72;ReadPosRankSum=-0.469;VQSLOD=6.2366;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,47:96:99:1155,0,1336 12 2062323 2062323 - TGC exonic DCP1B nonframeshift insertion DCP1B:NM_152640:exon7:c.782_783insGCA:p.Q261_E262insQ . . . . . . 0.4028 0.4374 0.3615 0.6177 0.3965 0.4054 0.3725 0.3041 . . . . . rs749249960 COSM249162;COSM5435235 1(kidney);2(liver);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4093 0.4561 0.3723 0.4106 0.5734 0.4208 0.4151 0.4068 0.3099 0.5433 0.6187 0.4123 0.5034 0.7675 0.4770 0.5012 0.4957 het 535.48 62 12 2062323 . T TTGC 535.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.427;DP=62;FS=1.342;HRun=0;HaplotypeScore=222.0241;MQ=59.88;MQ0=0;MQRankSum=1.332;QD=8.50;ReadPosRankSum=-0.817;set=variant2 GT:AD:DP:GQ:PL 0/1:51,12:62:99:575,0,1013 12 2558186 2558186 G A exonic CACNA1C synonymous SNV CACNA1C:NM_000719:exon4:c.G522A:p.A174A,CACNA1C:NM_001129827:exon4:c.G522A:p.A174A,CACNA1C:NM_001129829:exon4:c.G522A:p.A174A,CACNA1C:NM_001129830:exon4:c.G522A:p.A174A,CACNA1C:NM_001129831:exon4:c.G522A:p.A174A,CACNA1C:NM_001129832:exon4:c.G522A:p.A174A,CACNA1C:NM_001129833:exon4:c.G522A:p.A174A,CACNA1C:NM_001129834:exon4:c.G522A:p.A174A,CACNA1C:NM_001129835:exon4:c.G522A:p.A174A,CACNA1C:NM_001129836:exon4:c.G522A:p.A174A,CACNA1C:NM_001129837:exon4:c.G522A:p.A174A,CACNA1C:NM_001129838:exon4:c.G522A:p.A174A,CACNA1C:NM_001129839:exon4:c.G522A:p.A174A,CACNA1C:NM_001129840:exon4:c.G522A:p.A174A,CACNA1C:NM_001129841:exon4:c.G522A:p.A174A,CACNA1C:NM_001129842:exon4:c.G522A:p.A174A,CACNA1C:NM_001129843:exon4:c.G522A:p.A174A,CACNA1C:NM_001129844:exon4:c.G522A:p.A174A,CACNA1C:NM_001129846:exon4:c.G522A:p.A174A,CACNA1C:NM_001167623:exon4:c.G522A:p.A174A,CACNA1C:NM_001167624:exon4:c.G522A:p.A174A,CACNA1C:NM_001167625:exon4:c.G522A:p.A174A,CACNA1C:NM_199460:exon4:c.G522A:p.A174A 0.12 0.076 0.15 0.066 0.19 0.14 0.2074 0.1088 0.2049 0.0810 0.1936 0.2489 0.2493 0.1691 0.18 0.089 0.21 0.076 . rs1544514 COSM3753108;COSM3753107;COSM3753110;COSM3753106;COSM3753109 1(large_intestine) Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Brugada_syndrome|Timothy_syndrome RCV000079297.7|RCV000248885.1|RCV000319660.1|RCV000374583.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet CN169374|CN230736|C1142166:ORPHA130:418818005|C1832916:601005:ORPHA65283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1762 0.0942 0.1568 0.2881 0.0639 0.1653 0.2094 0.2084 0.1476 0.1668 0.1002 0.1854 0.3245 0.0531 0.1691 0.2123 0.1792 het 302.22 39 12 2558186 . G A 302.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.420;DP=39;Dels=0.00;FS=3.106;HRun=0;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;MQRankSum=-0.893;QD=7.75;ReadPosRankSum=-0.220;VQSLOD=5.4320;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,14:39:99:332,0,610 12 2788810 2788810 C T exonic CACNA1C synonymous SNV CACNA1C:NM_001129837:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129838:exon41:c.C5316T:p.N1772N,CACNA1C:NM_001129839:exon41:c.C5310T:p.N1770N,CACNA1C:NM_001129846:exon41:c.C5259T:p.N1753N,CACNA1C:NM_001167625:exon41:c.C5259T:p.N1753N,CACNA1C:NM_000719:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129829:exon42:c.C5415T:p.N1805N,CACNA1C:NM_001129830:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129833:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129834:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129835:exon42:c.C5349T:p.N1783N,CACNA1C:NM_001129836:exon42:c.C5343T:p.N1781N,CACNA1C:NM_001129840:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129841:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129842:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129843:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129844:exon42:c.C5283T:p.N1761N,CACNA1C:NM_001167623:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001167624:exon42:c.C5292T:p.N1764N,CACNA1C:NM_001129831:exon43:c.C5376T:p.N1792N,CACNA1C:NM_001129832:exon43:c.C5352T:p.N1784N,CACNA1C:NM_001129827:exon44:c.C5436T:p.N1812N,CACNA1C:NM_199460:exon44:c.C5436T:p.N1812N 0.019 0.0023 0.042 . 0.058 0.0072 0.0454 0.0102 0.0229 0.0005 0.0507 0.0675 0.0441 0.0134 0.044 0.011 0.061 . . rs72552065 COSM3753142;COSM3753146;COSM3753144;COSM3753147;COSM3753145;COSM3753143 1(large_intestine) Benign|Benign|Likely benign|Likely benign|Benign not_specified|Cardiovascular_phenotype|Timothy_syndrome|Brugada_syndrome|Long_QT_syndrome RCV000152906.6|RCV000243277.1|RCV000349489.1|RCV000393331.1|RCV000470155.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN230736|C1832916:601005:ORPHA65283|C1142166:ORPHA130:418818005|C0023976:9651007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0448 0.0087 0.0279 0.0944 0.0003 0.0500 0.0646 0.0572 0.0132 0.0443 0.0100 0.0215 0.0662 0 0.0470 0.0690 0.0490 het 278.73 32 12 2788810 . C T 278.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.458;DP=32;Dels=0.00;FS=5.401;HRun=0;HaplotypeScore=0.8941;MQ=58.83;MQ0=0;MQRankSum=0.537;QD=8.71;ReadPosRankSum=-0.307;VQSLOD=5.0409;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,13:32:99:309,0,501 12 2788879 2788879 G A exonic CACNA1C synonymous SNV CACNA1C:NM_001129837:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129838:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129839:exon41:c.G5379A:p.T1793T,CACNA1C:NM_001129846:exon41:c.G5328A:p.T1776T,CACNA1C:NM_001167625:exon41:c.G5328A:p.T1776T,CACNA1C:NM_000719:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129829:exon42:c.G5484A:p.T1828T,CACNA1C:NM_001129830:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129833:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129834:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129835:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129836:exon42:c.G5412A:p.T1804T,CACNA1C:NM_001129840:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129841:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129842:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129843:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129844:exon42:c.G5352A:p.T1784T,CACNA1C:NM_001167623:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001167624:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129831:exon43:c.G5445A:p.T1815T,CACNA1C:NM_001129832:exon43:c.G5421A:p.T1807T,CACNA1C:NM_001129827:exon44:c.G5505A:p.T1835T,CACNA1C:NM_199460:exon44:c.G5505A:p.T1835T 0.53 0.17 0.65 0.61 0.7 0.65 0.6953 0.2792 0.7421 0.6592 0.7857 0.7349 0.7116 0.6798 0.58 0.28 0.73 0.43 . rs1051375 COSM3753148;COSM3753153;COSM3753150;COSM3753152;COSM3753149;COSM3753151 2(large_intestine) Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Timothy_syndrome|Brugada_syndrome RCV000079298.7|RCV000251547.1|RCV000260681.1|RCV000297394.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet:SNOMED_CT CN169374|CN230736|C1832916:601005:ORPHA65283|C1142166:ORPHA130:418818005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6777 0.2338 0.7052 0.6642 0.6223 0.7618 0.7229 0.6807 0.6643 0.5917 0.2333 0.6897 0.6589 0.6258 0.7738 0.7396 0.7072 hom 631.83 18 12 2788879 . G A 631.83 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.64;MQ0=0;QD=35.10;VQSLOD=8.5356;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:54.16:665,54,0 12 2791130 2791130 C T exonic CACNA1C nonsynonymous SNV CACNA1C:NM_001129830:exon43:c.C5459T:p.P1820L,CACNA1C:NM_001167624:exon43:c.C5459T:p.P1820L,CACNA1C:NM_199460:exon45:c.C5603T:p.P1868L 0.67 0.46 0.72 0.57 0.82 0.85 0.7722 0.4883 0.7756 0.5925 0.8493 0.8109 0.8133 0.8421 0.72 0.5 0.82 . . rs10848683 COSM1582947;COSM1582946 1(haematopoietic_and_lymphoid_tissue);1(meninges) Benign not_specified RCV000124099.3 MedGen CN169374 . . . . . . 0.243 0.191 T 0.002 0.090 B 0.0 0.013 B . . . 1 0.090 P 1.32 0.331 L -3.54 0.951 D -1.64 0.393 N 0.032 0.022 -0.945 0.418 T 0.000 0.000 T . . . 0.086 0.102 3.459 0.538 0.049 0.000 0.002 N c -1.121 -1.211 0.991 0.323 0.581 0.326 0 1.64 0.228 -1.473 0.024 -0.566 0.046 0.000 0.063 0.000 0.016 2.422 0.041 Voltage-gated calcium channel subunit alpha\x2c C-terminal . . 0.7779 0.4837 0.7678 0.8152 0.5892 0.8501 0.8133 0.7938 0.8453 0.7168 0.4877 0.7464 0.8245 0.5950 0.8614 0.8199 0.8004 hom 4506.19 147 12 2791130 . C T 4506.19 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5756;MQ=58.70;MQ0=0;QD=30.65;VQSLOD=9.1743;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4506,343,0 12 2791132 2791132 A G exonic CACNA1C nonsynonymous SNV CACNA1C:NM_001129830:exon43:c.A5461G:p.M1821V,CACNA1C:NM_001167624:exon43:c.A5461G:p.M1821V,CACNA1C:NM_199460:exon45:c.A5605G:p.M1869V 0.77 0.78 0.77 0.61 0.83 0.86 0.8068 0.7855 0.7945 0.6216 0.8511 0.8198 0.84 0.8530 0.82 0.79 0.83 0.15 . rs10774053 COSM3998753;COSM3998754 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000124100.3 MedGen CN169374 . . . . . . 0.564 0.063 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.755 0.192 N -3.57 0.953 D 0.16 0.052 N 0.009 0.001 -0.971 0.371 T 0.000 0.000 T . . . 0.106 0.104 3.674 0.403 0.028 0.000 0.002 N c -1.642 -1.618 0.989 0.316 0.581 0.326 0 0.908 0.184 -0.521 0.063 -0.616 0.043 0.000 0.063 0.000 0.016 5.480 0.159 Voltage-gated calcium channel subunit alpha\x2c C-terminal . . 0.8080 0.7822 0.7880 0.8367 0.6207 0.8519 0.8219 0.8158 0.8552 0.8032 0.7696 0.7835 0.8411 0.6238 0.8623 0.8270 0.8275 hom 4409.76 146 12 2791132 . A G 4409.76 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4078;MQ=58.85;MQ0=0;QD=30.20;VQSLOD=8.3366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4409,337,0 12 2791205 2791205 A G exonic CACNA1C nonsynonymous SNV CACNA1C:NM_001129830:exon43:c.A5534G:p.K1845R,CACNA1C:NM_001167624:exon43:c.A5534G:p.K1845R,CACNA1C:NM_199460:exon45:c.A5678G:p.K1893R 1. 1. 1. 1. 1. 1. 0.9999 0.9988 1 1 1 1 1 1 1. 1. 1. 1. . rs10774054 . . Benign not_specified RCV000124101.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9988 1 1 1 1 1 1 1 0.9995 0.9984 1 1 1 1 1 1 hom 3719.85 119 12 2791205 . A G 3719.85 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.39;MQ0=0;QD=31.26;VQSLOD=8.1761;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3719,292,0 12 2968090 2968090 G C exonic FOXM1 nonsynonymous SNV FOXM1:NM_001243088:exon8:c.C1961G:p.P654R,FOXM1:NM_001243089:exon8:c.C1958G:p.P653R,FOXM1:NM_202003:exon8:c.C1961G:p.P654R,FOXM1:NM_021953:exon9:c.C2006G:p.P669R,FOXM1:NM_202002:exon10:c.C2120G:p.P707R 0.017 0.059 0.0058 . . 0.0041 0.0049 0.0484 0.0017 0.0001 0 0.0005 0.0011 0.0035 0.016 0.048 0.0002 0.033 . rs28919869 . . . . . . . . . . . . . 0.011 0.574 D 0.736 0.441 P 0.352 0.475 B 0.001 0.428 D 0.910 0.275 N 0.69 0.170 N -3.03 0.926 D -0.81 0.223 N 0.038 0.189 -0.493 0.689 T 0.178 0.523 T . . . 1.684 0.264 14.32 0.991 0.531 0.912 0.527 D c -0.238 -0.202 1.000 0.489 0.672 0.522 0 3.58 0.400 4.736 0.615 -0.584 0.045 1.000 0.715 0.045 0.161 8.895 0.344 . . . 0.0042 0.0480 0.0025 0.0045 0.0003 4.54e-05 0.0003 0.0026 0.0038 0.0132 0.0458 0.0012 0.0033 0 0.0003 0.0003 0.0010 het 832.30 76 12 2968090 . G C 832.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.488;DP=76;Dels=0.00;FS=4.491;HRun=0;HaplotypeScore=2.4675;MQ=59.39;MQ0=0;MQRankSum=-0.647;QD=10.95;ReadPosRankSum=-0.363;VQSLOD=5.0830;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,32:76:99:862,0,1260 12 2968169 2968169 A G exonic FOXM1 nonsynonymous SNV FOXM1:NM_001243088:exon8:c.T1882C:p.S628P,FOXM1:NM_001243089:exon8:c.T1879C:p.S627P,FOXM1:NM_202003:exon8:c.T1882C:p.S628P,FOXM1:NM_021953:exon9:c.T1927C:p.S643P,FOXM1:NM_202002:exon10:c.T2041C:p.S681P 0.31 0.58 0.27 0.23 0.16 0.19 0.2085 0.5238 0.2490 0.2589 0.1596 0.1571 0.2011 0.1921 0.25 0.46 0.14 0.4 0.12 rs3742076 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.997 0.228 P -1.935 0.002 N -2.71 0.910 D 2.14 0.003 N 0.031 0.012 -0.946 0.417 T 0.000 0.000 T . . . -0.077 0.087 1.910 0.655 0.076 0.183 0.200 N c -1.212 -1.016 0.999 0.391 0.672 0.522 0 3.4 0.379 3.213 0.506 0.138 0.222 1.000 0.715 0.088 0.184 9.710 0.392 . ENSG00000171792.6|ENSG00000171792.6|ENSG00000171792.6|ENSG00000078246.11 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.2058 0.5256 0.2470 0.2254 0.2551 0.1579 0.1553 0.1976 0.1900 0.2672 0.5145 0.2602 0.2053 0.2699 0.1667 0.1545 0.1748 het 923.15 84 12 2968169 . A G 923.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.433;DP=84;Dels=0.00;FS=2.929;HRun=3;HaplotypeScore=3.6518;MQ=59.28;MQ0=0;MQRankSum=1.315;QD=10.99;ReadPosRankSum=0.746;VQSLOD=5.9456;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,36:84:99:953,0,1328 12 2968458 2968458 T C exonic FOXM1 synonymous SNV FOXM1:NM_001243088:exon8:c.A1593G:p.R531R,FOXM1:NM_001243089:exon8:c.A1590G:p.R530R,FOXM1:NM_202003:exon8:c.A1593G:p.R531R,FOXM1:NM_021953:exon9:c.A1638G:p.R546R,FOXM1:NM_202002:exon10:c.A1752G:p.R584R 1. 1. 0.99 1. 0.99 1. 0.9899 0.9970 0.9952 1 0.9965 0.9848 0.9945 0.9941 0.99 1. 0.98 1. 0.99 rs2215292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9898 0.9974 0.9928 0.9965 1 0.9964 0.9832 0.9901 0.9940 0.9914 0.9961 0.9916 1 1 0.9971 0.9863 0.9898 hom 3551.81 110 12 2968458 . T C 3551.81 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8396;MQ=59.20;MQ0=0;QD=32.29;VQSLOD=8.1905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3551,283,0 12 2997397 2997397 G A exonic RHNO1 synonymous SNV RHNO1:NM_001252499:exon3:c.G489A:p.S163S,RHNO1:NM_001252500:exon3:c.G447A:p.S149S,RHNO1:NM_001257097:exon3:c.G489A:p.S163S,RHNO1:NM_001257098:exon3:c.G489A:p.S163S 0.53 0.6 0.57 0.65 0.35 0.46 0.4322 0.5636 0.5981 0.6318 0.3584 0.3606 0.4051 0.4490 0.41 0.55 0.34 0.51 0.38 rs2907608 COSM3753165 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4327 0.5614 0.5750 0.4152 0.6310 0.3616 0.3554 0.3986 0.4461 0.4335 0.5547 0.5778 0.375 0.6413 0.3754 0.3501 0.3906 het 1780.80 178 12 2997397 . G A 1780.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.401;DP=178;Dels=0.00;FS=4.470;HRun=0;HaplotypeScore=2.8974;MQ=59.66;MQ0=0;MQRankSum=-1.624;QD=10.00;ReadPosRankSum=1.731;VQSLOD=4.4408;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,72:178:99:1811,0,2881 12 3387697 3387697 T C exonic TSPAN9 synonymous SNV TSPAN9:NM_001168320:exon3:c.T174C:p.I58I,TSPAN9:NM_006675:exon4:c.T174C:p.I58I 0.17 0.28 0.16 0.1 0.18 0.11 0.1640 0.2885 0.0869 0.0876 0.1794 0.1809 0.1656 0.1054 0.21 0.28 0.18 0.29 0.16 rs16930370 COSM3753197 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1606 0.2890 0.0973 0.1921 0.0882 0.1832 0.1799 0.1745 0.1070 0.1951 0.2825 0.1038 0.1987 0.0781 0.1775 0.1688 0.1531 hom 6229.71 192 12 3387697 . T C 6229.71 Mask AC=2;AF=1.00;AN=2;DP=192;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.66;MQ0=0;QD=32.45;VQSLOD=9.5698;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:6228,535,0 12 3389601 3389601 C T exonic TSPAN9 synonymous SNV TSPAN9:NM_001168320:exon5:c.C384T:p.T128T,TSPAN9:NM_006675:exon6:c.C384T:p.T128T 0.042 0.0045 0.056 . 0.11 0.058 0.0768 0.0203 0.0422 0.0001 0.1363 0.1000 0.1038 0.0583 0.072 0.024 0.097 0.065 0.082 rs66501720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0778 0.0192 0.0447 0.1042 5.8e-05 0.1402 0.0977 0.0954 0.0596 0.0700 0.0201 0.0406 0.1159 0.0006 0.1349 0.0910 0.0859 het 1168.08 91 12 3389601 . C T 1168.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.475;DP=91;Dels=0.00;FS=0.851;HRun=0;HaplotypeScore=3.5880;MQ=59.08;MQ0=0;MQRankSum=0.870;QD=12.84;ReadPosRankSum=-1.664;VQSLOD=5.6369;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,47:91:99:1198,0,1159 12 3782647 3782647 A T exonic CRACR2A nonsynonymous SNV CRACR2A:NM_001144958:exon7:c.T636A:p.H212Q,CRACR2A:NM_032680:exon7:c.T636A:p.H212Q 0.17 0.12 0.24 0.13 0.15 0.27 0.1719 0.1223 0.3296 0.1260 0.1230 0.1391 0.1674 0.2688 0.14 0.12 0.14 0.18 0.074 rs36030417 COSM3753200;COSM3753199;COSM3753201 1(large_intestine) . . . . . . . . . . . 0.234 0.180 T 0.366 0.559 B 0.085 0.490 B 0.001 0.408 D 0.995 0.234 P 1.84 0.484 L 2.05 0.207 T -1.46 0.358 N 0.101 0.182 -1.097 0.044 T 0.000 0.000 T . . . -0.832 0.039 0.036 0.863 0.159 0.063 0.121 N c -1.489 -1.700 0.975 0.295 0.732 0.924 0 -8.51 0.008 -3.529 0.005 -1.344 0.013 0.000 0.063 0.579 0.285 9.652 0.389 . . . 0.1773 0.1227 0.3169 0.1194 0.1153 0.1289 0.1426 0.1574 0.2701 0.1362 0.1175 0.2876 0.1192 0.1142 0.1321 0.1410 0.1558 het 1567.17 130 12 3782647 . A T 1567.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.806;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9132;MQ=59.31;MQ0=0;MQRankSum=-1.211;QD=12.06;ReadPosRankSum=0.973;VQSLOD=4.8451;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,59:130:99:1597,0,1934 12 3782701 3782701 C T exonic CRACR2A synonymous SNV CRACR2A:NM_001144958:exon7:c.G582A:p.L194L,CRACR2A:NM_032680:exon7:c.G582A:p.L194L 0.17 0.12 0.24 0.13 0.15 0.27 0.1719 0.1241 0.3295 0.1258 0.1228 0.1391 0.1674 0.2684 0.14 0.13 0.14 0.2 0.074 rs17697920 COSM3753202;COSM3753204;COSM3753203 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1772 0.1241 0.3166 0.1194 0.1149 0.1289 0.1426 0.1571 0.2697 0.1364 0.1187 0.2864 0.1192 0.1141 0.1321 0.1409 0.1551 het 1192.41 99 12 3782701 . C T 1192.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.648;DP=99;Dels=0.00;FS=0.757;HRun=0;HaplotypeScore=1.5983;MQ=60.00;MQ0=0;MQRankSum=-0.686;QD=12.04;ReadPosRankSum=-1.027;VQSLOD=5.9150;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,49:99:99:1222,0,1384 12 3788145 3788145 C T exonic CRACR2A nonsynonymous SNV CRACR2A:NM_001144958:exon6:c.G460A:p.E154K,CRACR2A:NM_032680:exon6:c.G460A:p.E154K 0.22 0.17 0.33 0.13 0.26 0.27 0.2696 0.1896 0.3879 0.1417 0.2329 0.2782 0.2654 0.2842 0.25 0.19 0.28 0.28 0.26 rs242018 COSM3753205;COSM3753207;COSM3753206 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.372 0.192 T 0.039 0.197 B 0.003 0.080 B 0.172 0.173 N 1 0.090 P 2.215 0.627 M -0.01 0.628 T -1.47 0.420 N 0.052 0.064 -1.046 0.155 T 0.000 0.000 T . . . 2.726 0.389 21.0 0.978 0.356 0.105 0.158 N c -0.795 -0.871 0.075 0.157 0.707 0.730 0 1.51 0.220 1.012 0.293 -0.031 0.126 0.024 0.198 0.001 0.043 4.976 0.134 EF-hand domain pair . . 0.2740 0.1858 0.3739 0.2542 0.1348 0.2421 0.2825 0.2662 0.2876 0.2507 0.1862 0.3473 0.2351 0.1358 0.2469 0.2936 0.2945 hom 6198.22 194 12 3788145 . C T 6198.22 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.893;DP=194;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7649;MQ=59.57;MQ0=0;MQRankSum=-1.677;QD=31.95;ReadPosRankSum=1.019;VQSLOD=8.3059;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,192:194:99:6130,423,0 12 3788188 3788188 C T exonic CRACR2A synonymous SNV CRACR2A:NM_001144958:exon6:c.G417A:p.K139K,CRACR2A:NM_032680:exon6:c.G417A:p.K139K 0.15 0.13 0.23 0.13 0.11 0.21 0.1505 0.1371 0.3206 0.1409 0.1064 0.1149 0.1388 0.2068 0.12 0.13 0.11 0.18 0.025 rs3803135 COSM4147013;COSM4147015;COSM4147014 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1537 0.1348 0.3036 0.0774 0.1333 0.1080 0.1170 0.1309 0.2075 0.1265 0.1299 0.2806 0.0795 0.1327 0.1180 0.1172 0.1405 hom 4793.76 141 12 3788188 . C T 4793.76 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=59.34;MQ0=0;QD=34.00;VQSLOD=9.2666;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4793,373,0 12 3788222 3788222 G A exonic CRACR2A nonsynonymous SNV CRACR2A:NM_001144958:exon6:c.C383T:p.A128V,CRACR2A:NM_032680:exon6:c.C383T:p.A128V 0.23 0.18 0.34 0.13 0.26 0.27 0.2762 0.1956 0.3901 0.1415 0.2382 0.2872 0.2764 0.2883 0.25 0.19 0.28 0.28 0.26 rs242017 COSM3753208;COSM3753209;COSM3753210 1(large_intestine) . . . . . . . . . . . 0.316 0.259 T 0.514 0.355 P 0.036 0.335 B 0.605 0.109 N 1 0.090 P 2.005 0.547 M -0.01 0.628 T -0.97 0.277 N 0.088 0.084 -1.029 0.207 T 0.000 0.000 T . . . 1.405 0.232 12.82 0.975 0.339 0.103 0.157 N c -0.638 -0.734 0.059 0.152 0.707 0.730 0 0.878 0.182 0.192 0.168 0.072 0.180 0.000 0.063 0.005 0.090 6.884 0.232 EF-hand domain pair . . 0.2793 0.1925 0.3743 0.2545 0.1343 0.2465 0.2916 0.2735 0.2895 0.2567 0.1912 0.3517 0.2417 0.1354 0.2534 0.3007 0.3037 hom 3935.90 130 12 3788222 . G A 3935.90 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0445;MQ=59.32;MQ0=0;MQRankSum=1.466;QD=30.28;ReadPosRankSum=-0.693;VQSLOD=7.8811;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,129:130:99:3897,287,0 12 3789452 3789452 C T exonic CRACR2A nonsynonymous SNV CRACR2A:NM_001144958:exon5:c.G292A:p.A98T,CRACR2A:NM_032680:exon5:c.G292A:p.A98T 0.16 0.13 0.23 0.13 0.11 0.21 0.1509 0.1376 0.3208 0.1410 0.1065 0.1155 0.1388 0.2068 0.12 0.13 0.11 0.18 0.025 rs17836273 . . . . . . . . . . . . . 0.55 0.066 T 0.243 0.293 B 0.078 0.271 B 0.001 0.409 N 0.006 0.420 P 1.415 0.357 L -0.96 0.756 T -0.94 0.270 N 0.074 0.064 -1.092 0.053 T 0.000 0.000 T . . . 2.582 0.372 19.99 0.974 0.332 0.699 0.341 D c -0.356 -0.200 0.655 0.222 0.732 0.924 0 3.79 0.426 0.265 0.181 0.935 0.490 0.988 0.363 1.000 0.888 10.897 0.460 EF-Hand 1\x2c calcium-binding site|EF-hand domain|EF-hand domain pair . . 0.1561 0.1368 0.3068 0.0785 0.1369 0.1090 0.1187 0.1332 0.2106 0.1268 0.1305 0.2804 0.08 0.1332 0.1179 0.1174 0.1398 hom 3661.90 123 12 3789452 . C T 3661.90 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9782;MQ=58.86;MQ0=0;QD=29.77;VQSLOD=9.0417;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:123:99:3638,292,0 12 3806147 3806147 T C exonic CRACR2A nonsynonymous SNV CRACR2A:NM_001144958:exon4:c.A19G:p.R7G,CRACR2A:NM_032680:exon4:c.A19G:p.R7G 0.16 0.12 0.23 0.18 0.11 0.21 0.1730 0.1474 0.3672 0.2346 0.1125 0.1244 0.1751 0.2235 0.099 0.11 0.093 0.15 0.016 rs9788233 COSM1178334;COSM3931621;COSM1178335 1(urinary_tract);1(prostate) . . . . . . . . . . . 0.007 0.654 D 0.035 0.192 B 0.018 0.225 B 0.116 0.192 N 1 0.090 P 2.175 0.612 M -0.0 0.626 T -0.89 0.340 N 0.069 0.213 -1.083 0.067 T 0.000 0.000 T . . . 1.426 0.234 12.92 0.949 0.252 0.126 0.172 N c -0.705 -0.761 1.000 0.489 0.638 0.428 0 1.85 0.243 1.187 0.315 1.051 0.754 0.002 0.151 0.005 0.090 4.089 0.094 . . . 0.1574 0.1329 0.3187 0.0781 0.2026 0.0922 0.1105 0.1321 0.2137 0.1227 0.1271 0.2995 0.08 0.1816 0.0963 0.1099 0.1391 hom 761.61 23 12 3806147 . T C 761.61 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=58.68;MQ0=1;QD=33.11;VQSLOD=9.2455;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:63.19:795,63,0 12 4388084 4388084 C G exonic CCND2 synonymous SNV CCND2:NM_001759:exon3:c.C570G:p.T190T 0.22 0.17 0.28 0.083 0.38 0.23 0.3226 0.1880 0.2908 0.0840 0.3555 0.3923 0.2980 0.2615 0.33 0.2 0.39 0.24 0.43 rs3217805 COSM5019156 14(soft_tissue) Benign not_specified RCV000422040.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3240 0.1871 0.2993 0.4172 0.0790 0.3620 0.3910 0.3488 0.2585 0.3148 0.1994 0.3019 0.4669 0.0619 0.3546 0.3950 0.3551 het 707.87 69 12 4388084 . C G 707.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.795;DP=69;Dels=0.00;FS=2.456;HRun=2;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;MQRankSum=0.451;QD=10.26;ReadPosRankSum=-0.765;VQSLOD=6.5250;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,27:69:99:738,0,1045 12 4461485 4461485 G A exonic TIGAR synonymous SNV TIGAR:NM_020375:exon6:c.G441A:p.A147A 0.18 0.083 0.28 0.16 0.27 0.18 0.2357 0.0985 0.2491 0.1380 0.3291 0.2698 0.2439 0.1868 0.21 0.11 0.27 0.098 0.31 rs7133330 COSM3753224 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2406 0.0967 0.2546 0.2726 0.1451 0.3345 0.2632 0.2516 0.1880 0.2175 0.1020 0.2613 0.2848 0.1464 0.3347 0.2597 0.2434 het 681.33 57 12 4461485 . G A 681.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.009;DP=57;Dels=0.00;FS=1.010;HRun=0;HaplotypeScore=4.8994;MQ=58.30;MQ0=0;MQRankSum=-1.221;QD=11.95;ReadPosRankSum=0.726;VQSLOD=4.4168;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:29,28:57:99:711,0,752 12 4553332 4553332 A G exonic FGF6 synonymous SNV FGF6:NM_020996:exon2:c.T417C:p.V139V 0.47 0.57 0.35 0.42 0.39 0.57 0.4245 0.5655 0.3557 0.4197 0.4121 0.3936 0.3949 0.5181 0.45 0.56 0.4 0.47 0.33 rs2241280 COSM5428527 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4153 0.5621 0.3444 0.3568 0.4255 0.4085 0.3944 0.4101 0.5146 0.4362 0.5645 0.3489 0.2967 0.4356 0.4028 0.3793 0.4012 hom 1536.45 56 12 4553332 . A G 1536.45 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.59;MQ0=0;QD=27.44;VQSLOD=7.3429;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1569,132,0 12 4553383 4553383 A G exonic FGF6 synonymous SNV FGF6:NM_020996:exon2:c.T366C:p.T122T 0.48 0.6 0.35 0.42 0.39 0.57 0.4265 0.5898 0.3563 0.4183 0.4127 0.3937 0.3949 0.5176 0.46 0.58 0.4 0.48 0.33 rs2241279 COSM3753229 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4164 0.5853 0.3442 0.3567 0.4236 0.4086 0.3941 0.4108 0.5138 0.4430 0.5890 0.3505 0.3013 0.4338 0.4028 0.3790 0.4031 hom 1886.26 62 12 4553383 . A G 1886.26 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;QD=30.42;VQSLOD=9.0818;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1919,150,0 12 4554413 4554413 C T exonic FGF6 synonymous SNV FGF6:NM_020996:exon1:c.G324A:p.G108G 0.16 0.3 0.12 0.013 0.15 0.14 0.1897 0.3342 0.1684 0.0108 0.2529 0.1936 0.1843 0.1563 0.2 0.27 0.16 0.16 0.09 rs11611403 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1529 0.2912 0.1284 0.1729 0.0066 0.1929 0.1581 0.1638 0.1399 0.1852 0.2877 0.1348 0.1589 0.0074 0.1838 0.1506 0.1531 hom 1409.44 40 12 4554413 . C T 1409.44 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=35.24;VQSLOD=10.1677;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1442,117,0 12 4554548 4554548 G C exonic FGF6 synonymous SNV FGF6:NM_020996:exon1:c.C189G:p.A63A 0.9 0.65 0.97 1. 1. 1. 0.9721 0.7026 0.9837 0.9999 1 0.9988 0.9912 0.9992 0.91 0.73 1. 0.85 0.98 rs7358740 COSM4147046 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9779 0.6958 0.9832 0.9982 0.9999 0.9999 0.9989 0.9894 0.9993 0.9177 0.7134 0.9821 0.9967 1 1 0.9993 0.9764 hom 6464.16 224 12 4554548 . G C 6464.16 Mask AC=2;AF=1.00;AN=2;DP=224;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.1868;MQ=59.14;MQ0=1;QD=28.86;VQSLOD=7.2361;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:6462,523,0 12 4554630 4554630 A G exonic FGF6 nonsynonymous SNV FGF6:NM_020996:exon1:c.T107C:p.V36A 0.093 0.09 0.099 0.014 0.15 0.12 0.1397 0.1050 0.1270 0.0076 0.1912 0.1620 0.1448 0.1288 0.14 0.11 0.16 0.065 0.11 rs11613495 COSM3998807 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.627 0.052 T 0.0 0.026 B 0.0 0.013 B 0.003 0.359 N 0.978 0.252 P 0.97 0.241 L 1.84 0.247 T 0.8 0.019 N 0.076 0.067 -1.002 0.293 T 0.000 0.000 T . . . 0.103 0.104 3.645 0.785 0.119 0.593 0.306 D c -0.593 -0.425 0.975 0.296 0.497 0.185 0 3.3 0.368 1.292 0.327 1.199 0.960 0.995 0.385 0.966 0.452 5.788 0.175 . . . 0.1402 0.1065 0.1219 0.1656 0.0068 0.1947 0.1599 0.1605 0.1302 0.1384 0.1182 0.1265 0.1556 0.0074 0.1860 0.1533 0.1408 hom 4107.28 134 12 4554630 . A G 4107.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.065;DP=134;Dels=0.00;FS=4.048;HRun=0;HaplotypeScore=3.5755;MQ=59.20;MQ0=0;MQRankSum=1.029;QD=30.65;ReadPosRankSum=-1.081;VQSLOD=4.1688;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,133:134:99:4072,306,0 12 4702211 4702211 A T exonic DYRK4 nonsynonymous SNV DYRK4:NM_003845:exon4:c.A162T:p.Q54H 0.0068 0.0038 0.011 . 0.02 0.001 0.0142 0.0036 0.0067 0 0.0194 0.0213 0.0209 0.0028 0.017 0.0048 0.023 0.011 0.016 rs55825154 . . . . . . . . . . . . . 0.638 0.050 T 0.135 0.257 B 0.033 0.243 B 0.000 0.473 D 0.800 0.291 N 1.12 0.289 L -0.06 0.636 T -1.06 0.277 N 0.091 0.199 -1.070 0.094 T 0.064 0.265 T . . . 0.442 0.137 6.973 0.699 0.088 0.798 0.394 D c -0.474 -0.328 0.000 0.061 0.554 0.246 0 3.78 0.425 2.066 0.408 1.176 0.903 1.000 0.715 1.000 0.888 6.355 0.205 . . . 0.0144 0.0034 0.0072 0.0184 5.798e-05 0.0176 0.0223 0.0151 0.0031 0.0138 0.0042 0.0084 0.0099 0 0.0163 0.0209 0.0092 het 1513.58 149 12 4702211 . A T 1513.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.906;DP=149;Dels=0.00;FS=6.279;HRun=0;HaplotypeScore=3.5868;MQ=59.44;MQ0=0;MQRankSum=-0.025;QD=10.16;ReadPosRankSum=-0.850;VQSLOD=4.0737;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,66:149:99:1544,0,2075 12 4705317 4705317 C T exonic DYRK4 synonymous SNV DYRK4:NM_003845:exon5:c.C285T:p.V95V 0.24 0.1 0.29 0.31 0.3 0.23 0.2787 0.1174 0.2994 0.3354 0.2960 0.2949 0.3051 0.2625 0.23 0.12 0.28 0.22 0.31 rs3741925 COSM3753234 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2791 0.1148 0.2952 0.2477 0.3309 0.2917 0.2938 0.2804 0.2618 0.2413 0.1174 0.2847 0.1689 0.3360 0.2833 0.2912 0.2638 hom 7283.23 238 12 4705317 . C T 7283.23 Mask AC=2;AF=1.00;AN=2;DP=238;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8899;MQ=59.48;MQ0=0;QD=30.60;VQSLOD=9.1809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,238:238:99:7282,572,0 12 4735737 4735737 A G exonic AKAP3 synonymous SNV AKAP3:NM_001278309:exon5:c.T2331C:p.L777L,AKAP3:NM_006422:exon5:c.T2331C:p.L777L 0.26 0.15 0.33 0.36 0.3 0.24 0.3005 0.1565 0.3616 0.3994 0.3182 0.3061 0.3315 0.2652 0.25 0.16 0.29 0.25 0.31 rs2072358 COSM3753236;COSM3753235 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3016 0.1581 0.3504 0.2656 0.3908 0.3127 0.3035 0.3039 0.2654 0.2648 0.1555 0.3237 0.1921 0.3911 0.3036 0.3022 0.2902 hom 6517.67 200 12 4735737 . A G 6517.67 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.126;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9921;MQ=59.63;MQ0=0;MQRankSum=-1.611;QD=32.59;ReadPosRankSum=-0.797;VQSLOD=7.5806;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,199:200:99:6481,469,0 12 4736495 4736495 C T exonic AKAP3 nonsynonymous SNV AKAP3:NM_001278309:exon5:c.G1573A:p.E525K,AKAP3:NM_006422:exon5:c.G1573A:p.E525K 0.98 0.94 0.99 1. 1. 1. 0.9942 0.9371 0.9967 1 1 0.9999 0.9989 0.9997 0.98 0.93 1. 0.99 0.98 rs1990312 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -3.055 0.000 N 3.59 0.046 T 1.31 0.009 N 0.062 0.179 -0.985 0.338 T 0.000 0.000 T . . . 1.625 0.257 13.99 0.764 0.111 0.005 0.024 N c -0.908 -0.558 0.134 0.172 0.516 0.203 0 5.65 0.868 2.714 0.466 0.154 0.240 1.000 0.715 1.000 0.888 9.821 0.399 A-kinase anchor 110kDa\x2c C-terminal . . 0.9955 0.9366 0.9967 1 1 1 0.9999 0.9982 0.9998 0.9822 0.9383 0.9916 1 1 1 0.9998 0.9959 hom 1801.62 58 12 4736495 . C T 1801.62 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.60;MQ0=0;QD=31.06;VQSLOD=9.5006;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:58:99:1835,144,0 12 4736631 4736631 A G exonic AKAP3 synonymous SNV AKAP3:NM_001278309:exon5:c.T1437C:p.F479F,AKAP3:NM_006422:exon5:c.T1437C:p.F479F 0.98 0.94 0.99 1. 1. 1. 0.9942 0.9367 0.9967 1 1 0.9999 0.9989 0.9998 0.98 0.93 1. 0.98 0.93 rs11063265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9357 0.9964 1 0.9999 1 0.9999 0.9982 0.9999 0.9819 0.9374 0.9916 1 1 1 0.9997 0.9959 hom 1477.44 47 12 4736631 . A G 1477.44 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=31.43;VQSLOD=9.6264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1510,132,0 12 4736677 4736677 G C exonic AKAP3 nonsynonymous SNV AKAP3:NM_001278309:exon5:c.C1391G:p.T464S,AKAP3:NM_006422:exon5:c.C1391G:p.T464S 0.91 0.85 0.98 0.91 1. 0.86 0.9626 0.8599 0.9860 0.9319 0.9994 0.9955 0.9714 0.8789 0.95 0.86 1. 0.91 0.98 rs11063266 . . . . . . . . . . . . . 0.589 0.058 T 0.001 0.067 B 0.002 0.063 B 0.768 0.066 N 1 0.090 P -1.1 0.010 N 3.4 0.057 T 0.27 0.043 N 0.007 0.010 -0.971 0.370 T 0.000 0.000 T . . . -3.032 0.001 0.001 0.542 0.050 0.005 0.024 N c -2.319 -2.340 1.000 0.500 0.516 0.203 0 -11.0 0.001 -4.194 0.003 -2.216 0.004 0.000 0.063 0.004 0.083 11.026 0.468 A-kinase anchor 110kDa\x2c C-terminal . . 0.9669 0.8571 0.9883 0.9882 0.9316 0.9984 0.9963 0.9781 0.8798 0.9541 0.8581 0.9797 0.9967 0.9462 0.9980 0.9969 0.9745 hom 2224.58 66 12 4736677 . G C 2224.58 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6553;MQ=58.95;MQ0=0;QD=33.71;VQSLOD=9.5234;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2258,181,0 12 4736690 4736690 A G exonic AKAP3 synonymous SNV AKAP3:NM_001278309:exon5:c.T1378C:p.L460L,AKAP3:NM_006422:exon5:c.T1378C:p.L460L 0.97 0.91 0.99 1. 1. 1. 0.9897 0.9093 0.9903 1 1 0.9972 0.9912 0.9996 0.97 0.91 1. 0.97 1. rs10774251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9910 0.9068 0.9894 0.9831 1 1 0.9983 0.9894 0.9998 0.9731 0.9103 0.9845 0.9669 1 1 0.9988 0.9908 hom 2723.76 83 12 4736690 . A G 2723.76 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=59.16;MQ0=0;QD=32.82;VQSLOD=9.9219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2757,214,0 12 4737318 4737318 A G exonic AKAP3 synonymous SNV AKAP3:NM_001278309:exon5:c.T750C:p.N250N,AKAP3:NM_006422:exon5:c.T750C:p.N250N 0.82 0.68 0.94 0.74 0.98 0.84 0.9097 0.7104 0.9652 0.7211 0.9546 0.9647 0.9328 0.8539 0.88 0.71 0.97 0.81 0.98 rs7960207 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9162 0.7084 0.9631 0.9422 0.7202 0.9583 0.9673 0.9389 0.8502 0.8791 0.7144 0.9522 0.9238 0.7128 0.9548 0.9660 0.9389 hom 4491.04 158 12 4737318 . A G 4491.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.767;DP=158;Dels=0.00;FS=4.022;HRun=0;HaplotypeScore=3.5978;MQ=59.71;MQ0=0;MQRankSum=-1.074;QD=28.42;ReadPosRankSum=0.811;VQSLOD=4.0027;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,157:158:99:4454,337,0 12 4737404 4737404 C T exonic AKAP3 nonsynonymous SNV AKAP3:NM_001278309:exon5:c.G664A:p.E222K,AKAP3:NM_006422:exon5:c.G664A:p.E222K 0.0006 . . . 0.003 . 0.0039 0.0008 0.0010 0 0.0104 0.0057 0.0055 0 0.0049 0.0014 0.0067 . 0.016 rs71579261 . . . . . . . . . . . . . 0.043 0.413 D 0.611 0.378 P 0.272 0.382 B 0.002 0.383 N 0.754 0.296 N 2.675 0.786 M 3.12 0.081 T -1.08 0.281 N 0.48 0.529 -1.103 0.037 T 0.021 0.088 T . . . 4.489 0.601 24.3 0.999 0.951 0.090 0.146 N c -0.038 -0.070 0.177 0.178 0.516 0.203 0 5.26 0.734 2.342 0.434 0.069 0.176 0.984 0.356 0.169 0.210 10.301 0.426 A-kinase anchor 110kDa\x2c C-terminal . . 0.0039 0.0009 0.0009 0.0007 0 0.0094 0.0062 0.0033 0 0.0038 0.0013 0.0012 0 0 0.0089 0.0049 0.0020 het 1674.19 157 12 4737404 . C T 1674.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.582;DP=157;Dels=0.00;FS=8.798;HRun=1;HaplotypeScore=3.9114;MQ=59.85;MQ0=0;MQRankSum=0.051;QD=10.66;ReadPosRankSum=-1.982;VQSLOD=3.2011;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,67:157:99:1704,0,2472 12 4737459 4737459 C T exonic AKAP3 synonymous SNV AKAP3:NM_001278309:exon5:c.G609A:p.S203S,AKAP3:NM_006422:exon5:c.G609A:p.S203S 0.71 0.59 0.83 0.66 0.83 0.7 0.7756 0.6089 0.8361 0.6599 0.8446 0.8176 0.7930 0.7006 0.74 0.6 0.81 0.69 0.86 rs2072356 COSM4147058;COSM4147057 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7827 0.6066 0.8334 0.8060 0.6577 0.8474 0.8186 0.8001 0.6971 0.7519 0.6045 0.8230 0.7767 0.6571 0.8397 0.8189 0.8082 hom 3544.55 102 12 4737459 . C T 3544.55 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=34.75;VQSLOD=9.5662;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3544,280,0 12 4737715 4737715 C T exonic AKAP3 nonsynonymous SNV AKAP3:NM_001278309:exon5:c.G353A:p.G118E,AKAP3:NM_006422:exon5:c.G353A:p.G118E 0.71 0.59 0.83 0.65 0.83 0.7 0.7750 0.6088 0.8360 0.6507 0.8448 0.8176 0.7930 0.7007 0.74 0.6 0.81 0.69 0.86 rs2072355 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.400 0.131 N 1 0.090 P 1.61 0.413 L 3.42 0.320 T 0.99 0.014 N 0.023 0.391 -0.932 0.439 T 0.000 0.000 T . . . -1.741 0.012 0.002 0.741 0.102 0.012 0.041 N c -1.402 -1.461 0.919 0.266 0.516 0.203 0 -3.33 0.046 0.155 0.161 -0.337 0.073 0.000 0.063 0.001 0.043 6.038 0.188 . ENSG00000010219.9|ENSG00000111254.3|ENSG00000111254.3|ENSG00000111254.3|ENSG00000111254.3|ENSG00000256799.1 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis 0.7820 0.6066 0.8333 0.8058 0.6498 0.8473 0.8185 0.8002 0.6973 0.7516 0.6048 0.8234 0.7748 0.6549 0.8397 0.8186 0.8078 hom 4209.96 129 12 4737715 . C T 4209.96 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8364;MQ=59.52;MQ0=0;QD=32.64;VQSLOD=8.1917;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4210,337,0 12 4830000 4830000 T G exonic GALNT8 nonsynonymous SNV GALNT8:NM_017417:exon1:c.T157G:p.Y53D 0.38 0.5 0.41 0.36 0.38 0.23 0.3594 0.4736 0.4300 0.3693 0.3580 0.3633 0.3491 0.2181 0.41 0.47 0.38 0.37 0.34 rs10849133 COSM1128586 4(prostate);1(large_intestine) . . . . . . . . . . . 0.912 0.024 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P -1.39 0.006 N 0.69 0.517 T 1.29 0.010 N 0.019 0.004 -0.938 0.429 T 0.000 0.000 T . . . -1.002 0.032 0.016 0.517 0.045 0.000 0.004 N c -1.732 -1.687 0.997 0.355 0.598 0.340 0 0.482 0.160 0.380 0.202 -0.998 0.022 0.001 0.137 0.000 0.016 0.275 0.002 . . . 0.3636 0.4746 0.4380 0.3493 0.3653 0.3576 0.3688 0.3694 0.2155 0.3896 0.4505 0.4376 0.3775 0.3724 0.3537 0.3662 0.3255 het 1382.80 117 12 4830000 . T G 1382.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.738;DP=117;Dels=0.00;FS=3.453;HRun=0;HaplotypeScore=10.8157;MQ=57.62;MQ0=0;MQRankSum=0.323;QD=11.82;ReadPosRankSum=-0.323;VQSLOD=3.2828;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:56,61:117:99:1413,0,1456 12 4835882 4835882 T G exonic GALNT8 synonymous SNV GALNT8:NM_017417:exon2:c.T396G:p.L132L 0.31 0.18 0.42 0.36 0.43 0.25 0.3710 0.2294 0.4351 0.3725 0.3929 0.4090 0.3664 0.2531 0.36 0.24 0.42 0.27 0.4 rs2286578 COSM3753249 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3774 0.2266 0.4421 0.3659 0.3655 0.3889 0.4133 0.3940 0.2510 0.3517 0.2262 0.4460 0.3841 0.3713 0.3825 0.4097 0.3460 het 1102.77 79 12 4835882 . T G 1102.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.846;DP=79;Dels=0.00;FS=2.094;HRun=0;HaplotypeScore=2.2657;MQ=60.00;MQ0=0;MQRankSum=0.948;QD=13.96;ReadPosRankSum=-1.508;VQSLOD=5.9821;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:1133,0,1233 12 4853806 4853806 A G exonic GALNT8 nonsynonymous SNV GALNT8:NM_017417:exon4:c.A800G:p.E267G 0.02 0.0008 0.037 . 0.063 0.0082 0.0500 0.0111 0.0247 0.0002 0.0685 0.0746 0.0520 0.0128 0.054 0.014 0.074 0.022 0.049 rs34776842 COSM4147075 1(thyroid) . . . . . . . . . . . 0.102 0.302 T 0.034 0.191 B 0.037 0.218 B 0.123 0.189 N 0.986 0.246 N 1.53 0.389 L -0.02 0.629 T -3.85 0.723 D 0.197 0.241 -1.147 0.011 T 0.001 0.004 T . . . 2.791 0.396 21.3 0.992 0.559 0.136 0.177 N c -0.579 -0.529 0.001 0.082 0.554 0.246 0 2.0 0.254 0.470 0.216 1.140 0.893 0.001 0.137 0.940 0.414 9.513 0.381 Glycosyltransferase 2-like|Nucleotide-diphospho-sugar transferases ENSG00000010219.9 Whole_Blood 0.0509 0.0102 0.0319 0.0574 0.0002 0.0728 0.0746 0.0663 0.0140 0.0515 0.0129 0.0310 0.0430 0 0.0702 0.0763 0.0560 het 685.27 61 12 4853806 . A G 685.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.592;DP=61;Dels=0.00;FS=5.473;HRun=3;HaplotypeScore=2.4923;MQ=60.00;MQ0=0;MQRankSum=-0.156;QD=11.23;ReadPosRankSum=-0.966;VQSLOD=4.9003;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,28:61:99:715,0,829 12 4873163 4873163 G T exonic GALNT8 nonsynonymous SNV GALNT8:NM_017417:exon9:c.G1543T:p.V515F 0.33 0.25 0.43 0.36 0.42 0.25 0.3794 0.2865 0.4429 0.3723 0.3943 0.4139 0.3756 0.2521 0.38 0.3 0.42 0.34 0.4 rs1468556 COSM1179986 1(pancreas);1(prostate);1(large_intestine) . . . . . . . . . . . 0.049 0.398 D 0.321 0.313 B 0.106 0.296 B 0.142 0.029 N 1 0.090 P 0.995 0.252 L 1.7 0.269 T -2.61 0.561 D 0.275 0.333 -1.032 0.198 T 0.000 0.000 T . . . -0.063 0.088 2.021 0.648 0.074 0.186 0.201 N c -1.412 -1.575 1.000 0.747 0.696 0.573 0 -7.55 0.012 -0.154 0.100 -0.387 0.064 0.000 0.063 0.000 0.016 8.971 0.349 Ricin B\x2c lectin domain ENSG00000130035.2 Pituitary 0.3856 0.2835 0.4496 0.3845 0.3686 0.3908 0.4183 0.4039 0.2509 0.3708 0.2835 0.4569 0.3907 0.3710 0.3835 0.4147 0.3523 het 1381.49 131 12 4873163 . G T 1381.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.697;DP=131;Dels=0.00;FS=5.444;HRun=2;HaplotypeScore=4.4178;MQ=59.36;MQ0=0;MQRankSum=0.385;QD=10.55;ReadPosRankSum=-0.175;VQSLOD=4.7574;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,55:131:99:1411,0,1902 12 4919267 4919267 A G exonic KCNA6 synonymous SNV KCNA6:NM_002235:exon1:c.A60G:p.G20G 0.45 0.46 0.41 0.44 0.44 0.47 0.4368 0.4603 0.4398 0.4247 0.3380 0.4362 0.4190 0.4901 0.41 0.42 0.41 0.39 0.19 rs758534 COSM5426659 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4293 0.4453 0.4380 0.4692 0.4188 0.3232 0.4289 0.4355 0.4711 0.4179 0.4376 0.4450 0.5430 0.4114 0.3483 0.4175 0.4492 het 449.25 39 12 4919267 . A G 449.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DP=39;Dels=0.00;FS=1.399;HRun=3;HaplotypeScore=1.8650;MQ=58.57;MQ0=0;MQRankSum=0.183;QD=11.52;ReadPosRankSum=-0.829;VQSLOD=5.9447;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,20:39:99:479,0,492 12 5021228 5021228 T C exonic KCNA1 synonymous SNV KCNA1:NM_000217:exon2:c.T684C:p.C228C 0.49 0.42 0.51 0.63 0.5 0.42 0.4886 0.3996 0.5343 0.6115 0.4815 0.4955 0.4834 0.4236 0.47 0.41 0.5 0.56 0.42 rs1048500 COSM1362235 1(breast) Benign|Likely benign|Benign|Benign Episodic_ataxia_type_1|not_specified|Episodic_ataxia|Myokymia RCV000020220.1|RCV000117315.2|RCV000288623.1|RCV000390363.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|Human_Phenotype_Ontology:MedGen C1719788:160120:ORPHA37612:421182009|CN169374|HP:0002131:C1720189:ORPHA211062|HP:0002411:C0684219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4921 0.3993 0.5295 0.5364 0.6062 0.4865 0.4918 0.4995 0.4232 0.4753 0.3999 0.5430 0.5233 0.6005 0.5 0.4944 0.4847 het 3005.08 184 12 5021228 . T C 3005.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.855;DP=184;Dels=0.00;FS=2.617;HRun=0;HaplotypeScore=8.4046;MQ=59.42;MQ0=0;MQRankSum=1.534;QD=16.33;ReadPosRankSum=-0.396;VQSLOD=4.1204;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,105:184:99:3035,0,2013 12 5021348 5021348 G C exonic KCNA1 synonymous SNV KCNA1:NM_000217:exon2:c.G804C:p.T268T 0.53 0.48 0.58 0.66 0.52 0.46 0.5256 0.4588 0.6346 0.6599 0.4945 0.5159 0.5121 0.4734 0.5 0.47 0.52 0.63 0.47 rs2227910 COSM4880441 1(haematopoietic_and_lymphoid_tissue);1(prostate) Benign|Likely benign|Benign|Benign Episodic_ataxia_type_1|not_specified|Episodic_ataxia|Myokymia RCV000020222.1|RCV000117316.2|RCV000343851.1|RCV000391589.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|Human_Phenotype_Ontology:MedGen C1719788:160120:ORPHA37612:421182009|CN169374|HP:0002131:C1720189:ORPHA211062|HP:0002411:C0684219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5315 0.4558 0.6324 0.5905 0.6558 0.4894 0.5114 0.5330 0.4736 0.5055 0.4554 0.6220 0.5629 0.6543 0.5037 0.5105 0.5165 het 3230.05 180 12 5021348 . G C 3230.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.946;DP=180;Dels=0.00;FS=2.038;HRun=1;HaplotypeScore=4.8259;MQ=58.07;MQ0=0;MQRankSum=0.318;QD=17.94;ReadPosRankSum=0.065;VQSLOD=4.3125;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,111:180:99:3259,0,1718 12 5021984 5021984 T A exonic KCNA1 synonymous SNV KCNA1:NM_000217:exon2:c.T1440A:p.T480T 0.82 0.89 0.75 0.96 0.69 0.76 0.7385 0.8566 0.7567 0.9627 0.7579 0.6883 0.7357 0.7293 0.74 0.86 0.68 0.94 0.65 rs4766309 . . other|Benign|Benign not_specified|Myokymia|Episodic_ataxia RCV000117314.4|RCV000297286.1|RCV000361409.1 MedGen|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen:Orphanet CN169374|HP:0002411:C0684219|HP:0002131:C1720189:ORPHA211062 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7375 0.8601 0.7567 0.6896 0.9646 0.7611 0.6822 0.7271 0.7286 0.7610 0.8546 0.7578 0.6556 0.9648 0.7712 0.6858 0.7418 het 2572.71 225 12 5021984 . T A 2572.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.490;DP=225;DS;Dels=0.00;FS=1.832;HRun=0;HaplotypeScore=5.0715;MQ=59.71;MQ0=0;MQRankSum=-2.073;QD=11.43;ReadPosRankSum=-0.286;VQSLOD=3.3116;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:128,97:225:99:2603,0,3672 12 5154462 5154462 T C exonic KCNA5 synonymous SNV KCNA5:NM_002234:exon1:c.T1149C:p.G383G 0.98 0.94 0.99 1. 1. 1. 0.9954 0.9530 0.9984 0.9946 1 0.9999 0.9956 0.9999 0.98 0.96 1. 0.97 0.98 rs2359641 . . Benign|Likely benign not_specified|Familial_atrial_fibrillation RCV000251000.1|RCV000395109.1 MedGen|MedGen:Orphanet CN169374|CN204347:ORPHA334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9962 0.9518 0.9979 1 0.9949 1 0.9999 0.9980 0.9999 0.9853 0.9496 0.9916 1 0.9969 1 0.9999 0.9969 hom 4530.55 144 12 5154462 . T C 4530.55 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.933;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3781;MQ=53.75;MQ0=0;MQRankSum=-1.078;QD=31.46;ReadPosRankSum=-1.441;VQSLOD=2.3087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,143:144:99:4492,356,0 12 5603632 5603632 G A exonic NTF3 synonymous SNV NTF3:NM_002527:exon1:c.G252A:p.P84P,NTF3:NM_001102654:exon2:c.G291A:p.P97P 0.49 0.53 0.44 0.46 0.5 0.48 0.4907 0.5292 0.3807 0.4678 0.4331 0.5129 0.4778 0.4893 0.52 0.53 0.51 0.33 0.45 rs6332 COSM3753389 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4851 0.5225 0.3870 0.5711 0.4707 0.4358 0.5114 0.4914 0.4930 0.4970 0.5219 0.4093 0.5695 0.4789 0.4280 0.5070 0.4516 hom 3079.60 93 12 5603632 . G A 3079.60 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4440;MQ=60.65;MQ0=0;QD=33.11;VQSLOD=7.7476;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3113,241,0 12 5603935 5603935 C T exonic NTF3 synonymous SNV NTF3:NM_002527:exon1:c.C555T:p.P185P,NTF3:NM_001102654:exon2:c.C594T:p.P198P 0.11 0.026 0.094 0.023 0.2 0.21 0.1542 0.0508 0.0681 0.0205 0.1853 0.1839 0.1819 0.2160 0.14 0.059 0.19 0.076 0.16 rs10849277 COSM5618963 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1551 0.0486 0.0750 0.1899 0.0172 0.1946 0.1865 0.1596 0.2181 0.1321 0.0495 0.0955 0.1821 0.0198 0.2012 0.1757 0.1575 het 1954.49 127 12 5603935 . C T 1954.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.127;DP=127;Dels=0.00;FS=8.607;HRun=0;HaplotypeScore=3.6771;MQ=59.82;MQ0=0;MQRankSum=0.485;QD=15.39;ReadPosRankSum=-0.627;VQSLOD=4.2772;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,69:127:99:1984,0,1443 12 5674754 5674754 G A exonic ANO2 synonymous SNV ANO2:NM_001278596:exon25:c.C2712T:p.S904S,ANO2:NM_001278597:exon25:c.C2700T:p.S900S 0.34 0.21 0.36 0.33 0.46 0.4 0.4734 0.2980 0.4248 0.4035 0.4751 0.5159 0.4543 0.4563 0.4 0.24 0.47 0.3 . rs2277398 COSM4808602;COSM4808603;COSM4808604 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.404 0.2356 0.3187 0.4999 0.3301 0.3950 0.4547 0.4130 0.4126 0.3767 0.2449 0.3592 0.4801 0.3358 0.4124 0.4450 0.4276 het 549.65 34 12 5674754 . G A 549.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.833;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=57.20;MQ0=0;MQRankSum=1.077;QD=16.17;ReadPosRankSum=1.191;VQSLOD=6.1405;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,24:34:99:580,0,195 12 6078424 6078424 A T exonic VWF nonsynonymous SNV VWF:NM_000552:exon45:c.T7682A:p.F2561Y 0.02 0.015 0.035 0.001 0.052 0.001 0.0388 0.0209 0.0228 0.0001 0.0731 0.0547 0.0394 0.0037 0.038 0.023 0.046 0.033 0.025 rs35335161 . . Benign|Likely benign not_specified|von_Willebrand_disorder RCV000252234.1|RCV000368572.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0042974:ORPHA903:128105004 . . . . . . 0.532 0.070 T 0.107 0.245 B 0.021 0.181 B 0.000 0.466 D 0.987 0.246 N 1.875 0.501 L 1.19 0.376 T -0.26 0.112 N 0.222 0.272 -1.097 0.044 T 0.016 0.066 T . . . 2.962 0.416 22.1 0.974 0.334 0.587 0.305 D c -0.183 -0.086 1.000 0.473 0.672 0.522 0 4.87 0.627 2.100 0.412 1.199 0.960 1.000 0.715 0.838 0.350 7.917 0.288 . . . 0.0375 0.0196 0.0246 0.0279 5.8e-05 0.0762 0.0516 0.0498 0.0035 0.0437 0.0237 0.0310 0.0232 0 0.0773 0.0525 0.0561 het 650.99 40 12 6078424 . A T 650.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.942;DP=40;Dels=0.00;FS=1.639;HRun=0;HaplotypeScore=1.9953;MQ=60.00;MQ0=0;MQRankSum=0.161;QD=16.27;ReadPosRankSum=0.571;VQSLOD=6.0220;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,25:40:99:681,0,356 12 6091000 6091000 A G exonic VWF synonymous SNV VWF:NM_000552:exon42:c.T7239C:p.T2413T 0.83 0.71 0.9 0.9 0.88 0.79 0.8687 0.7367 0.9397 0.9324 0.8948 0.8839 0.8579 0.7975 0.84 0.75 0.89 0.85 0.88 rs216867 . . Benign|Likely benign not_specified|von_Willebrand_disorder RCV000242710.1|RCV000362780.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0042974:ORPHA903:128105004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8749 0.7340 0.9353 0.9004 0.9280 0.8950 0.8825 0.8766 0.7986 0.8533 0.7392 0.9141 0.9172 0.9233 0.9024 0.8938 0.8827 hom 5776.13 189 12 6091000 . A G 5776.13 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.0949;MQ=59.68;MQ0=0;QD=30.56;VQSLOD=7.0960;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:5775,478,0 12 6105387 6105387 G A exonic VWF synonymous SNV VWF:NM_000552:exon35:c.C5844T:p.C1948C 0.46 0.28 0.42 0.73 0.36 0.54 0.4577 0.3313 0.5688 0.7460 0.4402 0.3977 0.4394 0.5415 0.36 0.31 0.38 0.46 0.29 rs216902 COSM3753430 1(large_intestine) Benign|Likely benign not_specified|von_Willebrand_disorder RCV000248699.1|RCV000265769.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0042974:ORPHA903:128105004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4380 0.3086 0.5289 0.3380 0.7458 0.3985 0.3740 0.3998 0.5264 0.3906 0.3195 0.5143 0.37 0.7383 0.3863 0.3861 0.4333 het 499.93 46 12 6105387 . G A 499.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.127;DP=46;Dels=0.00;FS=1.373;HRun=0;HaplotypeScore=1.6316;MQ=58.91;MQ0=0;MQRankSum=-0.739;QD=10.87;ReadPosRankSum=0.125;VQSLOD=6.4083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,21:46:99:530,0,721 12 6143984 6143984 T C exonic VWF nonsynonymous SNV VWF:NM_000552:exon20:c.A2555G:p.Q852R 0.9 0.96 0.93 0.79 0.91 0.89 0.8992 0.9497 0.9157 0.7982 0.8903 0.9079 0.9141 0.8759 0.92 0.95 0.91 0.94 0.91 rs216321 COSM4147372 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.182 0.171 N 1 0.090 P -0.425 0.029 N -0.09 0.641 T 1.28 0.010 N 0.005 0.023 -0.939 0.428 T 0.000 0.000 T . . . 0.369 0.130 6.344 0.539 0.049 0.059 0.117 N c -1.098 -0.945 0.316 0.193 0.672 0.522 0 0.423 0.156 -0.552 0.061 -0.371 0.067 0.003 0.159 0.990 0.544 10.041 0.411 VWFC domain . . 0.8998 0.9520 0.9164 0.9450 0.7948 0.8924 0.9077 0.9143 0.8744 0.9060 0.9519 0.9189 0.9139 0.7988 0.8949 0.8951 0.8666 hom 3479.73 116 12 6143984 . T C 3479.73 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4404;MQ=59.80;MQ0=0;QD=30.00;VQSLOD=8.4663;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3479,295,0 12 6172202 6172202 T C exonic VWF nonsynonymous SNV VWF:NM_000552:exon13:c.A1451G:p.H484R 0.52 0.14 0.51 0.67 0.65 0.74 0.6212 0.2116 0.5224 0.7081 0.6678 0.6610 0.6848 0.7140 0.51 0.22 0.66 0.46 0.69 rs1800378 COSM431631 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) Benign|Likely benign not_specified|von_Willebrand_disorder RCV000249735.1|RCV000390452.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0042974:ORPHA903:128105004 . . . . . . 1.0 0.010 T 0.017 0.163 B 0.025 0.193 B 0.221 0.161 N 0.976 0.254 P -0.41 0.029 N 0.4 0.573 T 1.74 0.006 N 0.063 0.048 -0.939 0.428 T 0.000 0.000 T . . . -1.480 0.017 0.003 0.545 0.050 0.243 0.221 N c -1.289 -1.158 1.000 0.747 0.752 0.988 0 1.25 0.204 0.268 0.182 -0.250 0.090 0.137 0.232 0.644 0.297 1.281 0.019 von Willebrand factor\x2c type D domain . . 0.6223 0.1978 0.5235 0.7335 0.7058 0.6687 0.654 0.6461 0.7071 0.5247 0.2122 0.5299 0.6987 0.7258 0.6709 0.6403 0.6255 hom 2001.37 68 12 6172202 . T C 2001.37 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.43;VQSLOD=13.5909;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2034,165,0 12 6457062 6457062 T C exonic SCNN1A nonsynonymous SNV SCNN1A:NM_001159576:exon12:c.A2164G:p.T722A,SCNN1A:NM_001038:exon13:c.A1987G:p.T663A,SCNN1A:NM_001159575:exon13:c.A2056G:p.T686A 0.74 0.95 0.74 0.5 0.69 0.76 0.7133 0.9079 0.7678 0.5443 0.7320 0.6882 0.7212 0.7485 0.76 0.9 0.69 0.76 0.42 rs2228576 COSM1747194 2(urinary_tract);1(thyroid) Benign|Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_Type_I\x2c_Recessive|Cystic_Fibrosis-Like_Syndrome RCV000151811.3|RCV000295920.1|RCV000325126.1 MedGen|MedGen|MedGen CN169374|CN239471|CN239358 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.520 0.052 N 1 0.090 P -1.59 0.004 N -0.29 0.677 T 0.28 0.045 N 0.011 0.006 -0.939 0.428 T 0.000 0.000 T . . . -1.568 0.015 0.002 0.456 0.035 0.001 0.004 N c -1.606 -1.493 1.000 0.420 0.635 0.413 0 1.89 0.246 -0.388 0.074 0.069 0.176 0.000 0.063 0.003 0.074 3.471 0.071 . . . 0.6952 0.9090 0.7598 0.7543 0.4999 0.6978 0.6591 0.7057 0.7410 0.7453 0.9040 0.7458 0.8046 0.4901 0.7194 0.6883 0.6980 het 233.16 16 12 6457062 . T C 233.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.106;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.318;QD=14.57;ReadPosRankSum=1.482;VQSLOD=11.6189;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,9:16:99:263,0,171 12 6494240 6494240 A G exonic LTBR synonymous SNV LTBR:NM_001270987:exon3:c.A189G:p.T63T,LTBR:NM_002342:exon3:c.A246G:p.T82T 0.0044 . 0.01 . 0.012 0.0031 0.0082 0.0015 0.0021 0.0001 0.0169 0.0115 0.0088 0.0044 0.0078 0.0011 0.011 0.011 0.0082 rs41480749 COSM3753442 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0083 0.0011 0.0018 0.0083 0.0001 0.0186 0.0118 0.0069 0.0040 0.0080 0.0023 0.0036 0.0099 0 0.0166 0.0103 0.0082 het 2940.88 238 12 6494240 . A G 2940.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.436;DP=238;Dels=0.00;FS=0.478;HRun=0;HaplotypeScore=6.7416;MQ=59.55;MQ0=0;MQRankSum=0.367;QD=12.36;ReadPosRankSum=-3.073;VQSLOD=2.6130;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:119,119:238:99:2971,0,3235 12 6495275 6495275 C A exonic LTBR synonymous SNV LTBR:NM_001270987:exon5:c.C459A:p.A153A,LTBR:NM_002342:exon5:c.C516A:p.A172A 0.85 0.97 0.8 0.87 0.73 0.81 0.7774 0.9393 0.7773 0.8654 0.7507 0.7353 0.7313 0.8123 0.8 0.93 0.74 0.8 0.7 rs2364480 COSM3765664 1(liver);3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7732 0.9451 0.7722 0.6324 0.8652 0.7504 0.7431 0.7419 0.8129 0.8190 0.9374 0.7566 0.6225 0.8536 0.7584 0.7699 0.7854 het 2900.72 217 12 6495275 . C A 2900.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.485;DP=217;DS;Dels=0.00;FS=0.504;HRun=0;HaplotypeScore=7.2233;MQ=58.29;MQ0=0;MQRankSum=-0.148;QD=13.37;ReadPosRankSum=-0.893;VQSLOD=4.7173;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,112:217:99:2931,0,2428 12 6560473 6560473 A G exonic CD27 nonsynonymous SNV CD27:NM_001242:exon6:c.A698G:p.H233R 1. 1. 1. 1. 0.99 1. 0.9926 0.9982 0.9976 1 0.9982 0.9888 0.9922 0.9951 0.99 1. 0.99 0.99 0.92 rs2532502 COSM4147392 1(thyroid) Benign not_specified RCV000455910.1 MedGen CN169374 . . . . . . 0.167 0.231 T 0.0 0.026 B 0.0 0.013 B 0.693 0.062 N 1 0.090 P 0 0.065 N -3.33 0.939 D 0.15 0.053 N 0.005 0.026 -0.964 0.385 T 0.000 0.000 T . . . 1.440 0.236 13.00 0.733 0.100 0.040 0.093 N c -1.598 -1.519 1.000 0.747 0.442 0.072 0 1.88 0.245 0.374 0.201 -1.350 0.013 0.000 0.063 0.948 0.423 6.474 0.211 . . . 0.9928 0.9984 0.9969 0.9859 1 0.9988 0.9888 0.9934 0.9942 0.9950 0.9984 0.9988 0.9967 1 0.9983 0.9914 0.9959 hom 2656.71 89 12 6560473 . A G 2656.71 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5929;MQ=58.90;MQ0=0;QD=29.85;VQSLOD=9.1126;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:89:99:2690,214,0 12 6562753 6562753 A G exonic TAPBPL nonsynonymous SNV TAPBPL:NM_018009:exon3:c.A436G:p.M146V,TAPBPL:NM_001351355:exon4:c.A46G:p.M16V 0.69 0.62 0.56 0.79 0.68 0.78 0.6832 0.5974 0.5724 0.7675 0.6970 0.6854 0.6504 0.7581 0.66 0.59 0.69 0.63 0.72 rs2532501 COSM3753445 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.180 0.171 N 1 0.090 P -0.92 0.013 N 1.11 0.389 T 1.01 0.038 N 0.009 0.001 -1.003 0.290 T 0.000 0.000 T . . . -2.860 0.002 0.001 0.592 0.060 0.023 0.065 N c -1.772 -1.699 1.000 0.747 0.628 0.401 0 -4.16 0.036 -0.272 0.085 -0.958 0.024 0.001 0.137 0.874 0.366 3.208 0.062 . ENSG00000139192.7|ENSG00000010292.8|ENSG00000215039.2|ENSG00000111639.3|ENSG00000139192.7|ENSG00000139190.12|ENSG00000111639.3|ENSG00000010292.8|ENSG00000139192.7|ENSG00000010292.8|ENSG00000215039.2|ENSG00000139190.12|ENSG00000139190.12|ENSG00000111639.3|ENSG00000139190.12|ENSG00000139192.7|ENSG00000010292.8|ENSG00000139190.12|ENSG00000215039.2|ENSG00000111639.3|ENSG00000139190.12|ENSG00000139192.7|ENSG00000139190.12|ENSG00000139190.12|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000010292.8|ENSG00000111639.3|ENSG00000010292.8|ENSG00000215039.2|ENSG00000010292.8|ENSG00000215039.2|ENSG00000111639.3|ENSG00000111639.3|ENSG00000139190.12|ENSG00000139190.12|ENSG00000139190.12|ENSG00000215039.2|ENSG00000139192.7|ENSG00000139190.12|ENSG00000010292.8|ENSG00000139200.9|ENSG00000139192.7|ENSG00000139190.12|ENSG00000139192.7|ENSG00000010292.8|ENSG00000139190.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6823 0.5968 0.5863 0.5730 0.7713 0.7052 0.6937 0.6564 0.7616 0.6768 0.6003 0.6100 0.5695 0.7699 0.7097 0.7085 0.6935 het 737.93 63 12 6562753 . A G 737.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.752;DP=63;Dels=0.00;FS=6.906;HRun=0;HaplotypeScore=0.0000;MQ=58.74;MQ0=0;MQRankSum=2.213;QD=11.71;ReadPosRankSum=0.379;VQSLOD=4.5853;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,29:63:99:768,0,1020 12 6562810 6562810 A G exonic TAPBPL nonsynonymous SNV TAPBPL:NM_018009:exon3:c.A493G:p.T165A,TAPBPL:NM_001351355:exon4:c.A103G:p.T35A 0.69 0.62 0.56 0.79 0.68 0.77 0.6830 0.5982 0.5724 0.7674 0.6974 0.6848 0.6489 0.7578 0.66 0.59 0.69 0.63 0.7 rs2532500 COSM3753446 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.866 0.026 T 0.0 0.026 B 0.0 0.013 B 0.440 0.126 N 1 0.090 P -1.39 0.006 N 1.0 0.414 T 0.97 0.026 N 0.01 0.001 -0.962 0.388 T 0.000 0.000 T . . . -2.453 0.004 0.001 0.248 0.011 0.007 0.029 N c -1.613 -1.518 1.000 0.747 0.628 0.401 0 1.68 0.231 0.618 0.239 -0.326 0.075 0.000 0.063 0.000 0.016 7.420 0.261 . ENSG00000139192.7|ENSG00000010292.8|ENSG00000215039.2|ENSG00000111639.3|ENSG00000139192.7|ENSG00000139190.12|ENSG00000111639.3|ENSG00000010292.8|ENSG00000139192.7|ENSG00000010292.8|ENSG00000215039.2|ENSG00000139190.12|ENSG00000139190.12|ENSG00000111639.3|ENSG00000139190.12|ENSG00000139192.7|ENSG00000010292.8|ENSG00000139190.12|ENSG00000215039.2|ENSG00000111639.3|ENSG00000139190.12|ENSG00000139192.7|ENSG00000139190.12|ENSG00000139190.12|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000010292.8|ENSG00000111639.3|ENSG00000010292.8|ENSG00000215039.2|ENSG00000010292.8|ENSG00000215039.2|ENSG00000111639.3|ENSG00000111639.3|ENSG00000139190.12|ENSG00000139190.12|ENSG00000139190.12|ENSG00000215039.2|ENSG00000139192.7|ENSG00000139190.12|ENSG00000010292.8|ENSG00000139200.9|ENSG00000139192.7|ENSG00000139190.12|ENSG00000139192.7|ENSG00000010292.8|ENSG00000139190.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6819 0.5967 0.5857 0.5731 0.7712 0.7050 0.6931 0.6557 0.7614 0.6767 0.6000 0.6086 0.5695 0.7695 0.7099 0.7083 0.6947 het 513.42 61 12 6562810 . A G 513.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.831;DP=61;Dels=0.00;FS=3.794;HRun=0;HaplotypeScore=4.8780;MQ=58.98;MQ0=0;MQRankSum=1.500;QD=8.42;ReadPosRankSum=-1.204;VQSLOD=3.7134;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,23:61:99:543,0,978 12 6575044 6575044 G T exonic VAMP1 synonymous SNV VAMP1:NM_001297438:exon3:c.C252A:p.A84A,VAMP1:NM_014231:exon3:c.C252A:p.A84A,VAMP1:NM_016830:exon3:c.C252A:p.A84A,VAMP1:NM_199245:exon3:c.C252A:p.A84A 0.27 0.21 0.19 0.33 0.32 0.31 0.2936 0.2010 0.1334 0.3430 0.3347 0.3137 0.3263 0.3391 0.28 0.2 0.32 0.24 0.33 rs2072375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2925 0.1967 0.1533 0.3073 0.3446 0.3342 0.3166 0.2856 0.3416 0.2720 0.2042 0.1878 0.3146 0.3201 0.3376 0.2945 0.2760 het 1222.03 90 12 6575044 . G T 1222.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.724;DP=90;Dels=0.00;FS=1.725;HRun=2;HaplotypeScore=4.9857;MQ=58.31;MQ0=0;MQRankSum=-0.339;QD=13.58;ReadPosRankSum=-0.372;VQSLOD=5.1690;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:43,47:90:99:1252,0,1166 12 6619284 6619284 C G exonic NCAPD2 nonsynonymous SNV NCAPD2:NM_014865:exon4:c.C247G:p.Q83E 0.8 0.98 0.83 0.67 0.73 0.72 0.7536 0.9483 0.8821 0.6551 0.7640 0.7261 0.7163 0.7013 0.79 0.94 0.72 0.83 0.68 rs714774 COSM3753449 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.810 P -2.19 0.001 N 1.15 0.382 T 0.96 0.015 N 0.062 0.047 -0.942 0.423 T 0.000 0.000 T . . . 0.629 0.154 8.356 0.768 0.112 0.131 0.175 N c -0.766 -0.439 0.999 0.398 0.707 0.730 0 5.32 0.753 4.833 0.622 0.136 0.221 1.000 0.715 0.999 0.750 14.549 0.675 Condensin complex subunit 1\x2c N-terminal ENSG00000139192.7|ENSG00000010292.8|ENSG00000111639.3|ENSG00000139192.7|ENSG00000215039.2|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139190.12|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139190.12|ENSG00000215039.2|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000215039.2|ENSG00000111639.3|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000139192.7|ENSG00000010292.8|ENSG00000126746.13|ENSG00000139192.7|ENSG00000126746.13|ENSG00000139192.7|ENSG00000010292.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.7521 0.9533 0.8672 0.7104 0.6526 0.7628 0.7217 0.7491 0.6984 0.8004 0.9423 0.8445 0.7167 0.6784 0.7570 0.7424 0.7684 het 1033.82 87 12 6619284 . C G 1033.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.450;DP=87;Dels=0.00;FS=0.802;HRun=1;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;MQRankSum=0.200;QD=11.88;ReadPosRankSum=1.433;VQSLOD=5.5273;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,41:87:99:1064,0,1365 12 6630988 6630988 A G exonic NCAPD2 nonsynonymous SNV NCAPD2:NM_014865:exon15:c.A1739G:p.K580R 0.0012 0.0008 0.0029 . 0.002 0.001 0.0053 0.0011 0.0027 0 0.0006 0.0082 0.0022 0.0027 0.0059 0.0014 0.0083 . 0.025 rs17725914 . . . . . . . . . . . . . 0.503 0.158 T 0.039 0.197 B 0.015 0.162 B 0.908 0.074 N 1 0.090 N 0 0.065 N 2.48 0.317 T -0.69 0.204 N 0.144 0.248 -1.054 0.134 T 0.032 0.139 T 0.005 0.126 T 0.374 0.130 6.389 0.803 0.127 0.662 0.327 D c -0.795 -0.712 0.994 0.336 0.707 0.730 0 4.93 0.643 2.099 0.412 0.889 0.393 0.190 0.240 0.269 0.231 12.828 0.569 . . . 0.0051 0.0009 0.0027 0.0054 0 0.0013 0.0085 0.0042 0.0031 0.0048 0.0018 0.0036 0.0033 0 0.0009 0.0081 0.0041 het 802.61 80 12 6630988 . A G 802.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.166;DP=80;Dels=0.00;FS=6.130;HRun=1;HaplotypeScore=1.5518;MQ=59.42;MQ0=0;MQRankSum=0.658;QD=10.03;ReadPosRankSum=0.356;VQSLOD=5.1681;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,31:80:99:833,0,1316 12 6631169 6631169 C A exonic NCAPD2 synonymous SNV NCAPD2:NM_014865:exon15:c.C1920A:p.I640I 0.53 0.6 0.62 0.57 0.47 0.4 0.4855 0.5856 0.6247 0.5653 0.4619 0.4624 0.4857 0.3859 0.5 0.58 0.46 0.52 0.34 rs917634 COSM3753451 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4870 0.5877 0.6108 0.4972 0.5665 0.4513 0.4584 0.4938 0.3830 0.5019 0.5825 0.5943 0.5067 0.5760 0.4427 0.4566 0.4867 het 1865.24 160 12 6631169 . C A 1865.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.991;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8913;MQ=59.65;MQ0=0;MQRankSum=0.205;QD=11.66;ReadPosRankSum=0.702;VQSLOD=6.1168;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,75:160:99:1895,0,2314 12 6637845 6637845 T C exonic NCAPD2 synonymous SNV NCAPD2:NM_014865:exon26:c.T3300C:p.R1100R 0.8 0.98 0.83 0.69 0.71 0.72 0.7456 0.9448 0.8796 0.6701 0.7531 0.7132 0.7195 0.6942 0.79 0.94 0.71 0.83 0.53 rs2072374 COSM1747202 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7440 0.9505 0.8634 0.7008 0.6668 0.7499 0.7095 0.7385 0.6896 0.7934 0.9407 0.8377 0.7119 0.6836 0.7428 0.7326 0.7602 het 1906.89 146 12 6637845 . T C 1906.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.393;DP=146;Dels=0.00;FS=1.374;HRun=1;HaplotypeScore=1.7262;MQ=59.74;MQ0=0;MQRankSum=-0.101;QD=13.06;ReadPosRankSum=0.219;VQSLOD=6.8265;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,72:146:99:1937,0,1932 12 6639088 6639088 A G exonic NCAPD2 synonymous SNV NCAPD2:NM_014865:exon29:c.A3801G:p.V1267V 0.78 0.91 0.82 0.71 0.71 0.72 0.7433 0.8978 0.8772 0.6949 0.7575 0.7133 0.7126 0.6945 0.77 0.89 0.71 0.8 0.66 rs1043262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7430 0.9011 0.8608 0.7008 0.6940 0.7535 0.7096 0.7381 0.6911 0.7826 0.8971 0.8353 0.7119 0.7077 0.7458 0.7330 0.7556 het 1240.16 118 12 6639088 . A G 1240.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.710;DP=118;Dels=0.00;FS=0.756;HRun=2;HaplotypeScore=9.8055;MQ=59.05;MQ0=0;MQRankSum=-0.885;QD=10.51;ReadPosRankSum=0.377;VQSLOD=3.9158;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,49:118:99:1270,0,1872 12 6646320 6646320 T C exonic GAPDH synonymous SNV GAPDH:NM_001256799:exon5:c.T255C:p.D85D,GAPDH:NM_001289746:exon5:c.T381C:p.D127D,GAPDH:NM_001289745:exon6:c.T381C:p.D127D,GAPDH:NM_002046:exon6:c.T381C:p.D127D 0.41 0.57 0.31 0.52 0.22 0.33 0.2774 0.4923 0.3139 0.4967 0.2769 0.2089 0.2345 0.2819 0.29 0.47 0.2 0.41 0.2 rs1065691 COSM3998914 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2726 0.4991 0.3109 0.1647 0.4989 0.2754 0.2074 0.2391 0.2733 0.3181 0.4857 0.2949 0.1854 0.4787 0.2735 0.2209 0.2714 het 1305.46 100 12 6646320 . T C 1305.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.662;DP=100;Dels=0.00;FS=1.657;HRun=0;HaplotypeScore=4.3967;MQ=59.16;MQ0=0;MQRankSum=-2.324;QD=13.05;ReadPosRankSum=0.979;VQSLOD=3.4798;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,51:100:99:1335,0,1277 12 6647109 6647109 T C exonic GAPDH synonymous SNV GAPDH:NM_001256799:exon7:c.T759C:p.F253F,GAPDH:NM_001289746:exon7:c.T885C:p.F295F,GAPDH:NM_001289745:exon8:c.T885C:p.F295F,GAPDH:NM_002046:exon8:c.T885C:p.F295F 0.41 0.57 0.32 0.55 0.22 0.34 0.2801 0.4950 0.3165 0.5285 0.2776 0.2094 0.2345 0.2850 0.29 0.47 0.2 0.45 0.2 rs1803621 COSM3998915 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2773 0.4999 0.3143 0.1649 0.5323 0.2754 0.2081 0.2422 0.2823 0.3224 0.4869 0.3117 0.1854 0.5330 0.2743 0.2223 0.2751 het 1287.79 92 12 6647109 . T C 1287.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.176;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=59.32;MQ0=0;MQRankSum=-0.935;QD=14.00;ReadPosRankSum=0.055;VQSLOD=5.8417;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,51:92:99:1318,0,1058 12 6675769 6675771 CTC - exonic NOP2 nonframeshift deletion NOP2:NM_001033714:exon4:c.162_164del:p.R55del,NOP2:NM_001258308:exon4:c.162_164del:p.R55del,NOP2:NM_001258309:exon4:c.162_164del:p.R55del,NOP2:NM_001258310:exon4:c.162_164del:p.R55del,NOP2:NM_006170:exon4:c.162_164del:p.R55del 0.005 0.0015 0.016 . 0.011 0.001 0.0108 0.0036 0.0136 0 0.0018 0.0156 0.0100 0.0033 0.014 0.0039 0.019 . . rs201706903 COSM5713224;COSM5713223 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0106 0.0029 0.0101 0.0198 0 0.0026 0.0159 0.0162 0.0036 0.0093 0.0034 0.0179 0.0099 0 0.0034 0.0144 0.0122 het 1213.17 67 12 6675768 . TCTC T 1213.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.170;DP=67;FS=3.585;HRun=0;HaplotypeScore=261.5351;MQ=58.35;MQ0=0;MQRankSum=-1.577;QD=18.11;ReadPosRankSum=-0.416;set=variant2 GT:AD:DP:GQ:PL 0/1:38,29:67:99:1252,0,2218 12 6887020 6887020 T C exonic LAG3 nonsynonymous SNV LAG3:NM_002286:exon7:c.T1364C:p.I455T 0.67 0.58 0.68 0.82 0.61 0.69 0.6392 0.5509 0.7252 0.8450 0.6166 0.6128 0.5969 0.6448 0.6 0.56 0.62 0.6 0.73 rs870849 . . . . . . . . . . . . . 0.101 0.303 T 0.01 0.144 B 0.003 0.080 B 0.169 0.174 N 0.916 0.274 P 1.355 0.339 L 2.54 0.139 T -0.37 0.132 N 0.064 0.049 -1.058 0.121 T 0.000 0.000 T . . . -0.191 0.077 1.145 0.357 0.022 0.255 0.225 N c -0.849 -0.877 1.000 0.417 0.615 0.372 0 -1.58 0.080 0.037 0.136 -0.671 0.040 0.781 0.292 0.008 0.104 6.013 0.187 . . . 0.6406 0.5447 0.7049 0.5897 0.8438 0.6150 0.6126 0.6266 0.6437 0.6051 0.5466 0.6790 0.6324 0.8488 0.6002 0.6067 0.6429 het 2107.75 149 12 6887020 . T C 2107.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.614;DP=149;Dels=0.00;FS=0.619;HRun=2;HaplotypeScore=2.4983;MQ=59.57;MQ0=0;MQRankSum=1.821;QD=14.15;ReadPosRankSum=-0.126;VQSLOD=6.2075;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,77:149:99:2138,0,1767 12 6926363 6926363 T C exonic CD4 synonymous SNV CD4:NM_001195014:exon5:c.T486C:p.S162S,CD4:NM_001195015:exon5:c.T204C:p.S68S,CD4:NM_001195016:exon5:c.T204C:p.S68S,CD4:NM_001195017:exon5:c.T204C:p.S68S,CD4:NM_000616:exon7:c.T1023C:p.S341S 0.75 0.79 0.67 0.91 0.57 0.75 0.6439 0.7486 0.7129 0.9254 0.6611 0.5597 0.5763 0.7169 0.61 0.74 0.54 0.8 0.52 rs1055141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6435 0.7564 0.6939 0.5814 0.9279 0.6698 0.5529 0.5916 0.7108 0.6512 0.7469 0.6499 0.5993 0.9351 0.6607 0.5666 0.6035 het 1379.65 93 12 6926363 . T C 1379.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.452;DP=93;Dels=0.00;FS=8.449;HRun=0;HaplotypeScore=4.4656;MQ=58.60;MQ0=0;MQRankSum=-1.911;QD=14.83;ReadPosRankSum=0.053;VQSLOD=3.5911;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,55:93:99:1410,0,886 12 6928075 6928075 T C exonic CD4 synonymous SNV CD4:NM_001195014:exon7:c.T804C:p.C268C,CD4:NM_001195015:exon7:c.T522C:p.C174C,CD4:NM_001195016:exon7:c.T522C:p.C174C,CD4:NM_001195017:exon7:c.T522C:p.C174C,CD4:NM_000616:exon9:c.T1341C:p.C447C 0.76 0.82 0.68 0.91 0.57 0.75 0.6465 0.7825 0.7109 0.9253 0.6613 0.5589 0.5822 0.7183 0.62 0.77 0.54 0.8 0.52 rs12821756 COSM3765665 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6465 0.7871 0.6950 0.5898 0.9274 0.6697 0.5524 0.5940 0.7135 0.6587 0.7736 0.6586 0.6074 0.9352 0.6612 0.5651 0.6071 het 1137.38 91 12 6928075 . T C 1137.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.569;DP=91;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=58.82;MQ0=0;MQRankSum=0.467;QD=12.50;ReadPosRankSum=1.591;VQSLOD=6.1184;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,41:91:99:1167,0,1285 12 6933787 6933787 A G exonic GPR162 synonymous SNV GPR162:NM_019858:exon2:c.A723G:p.V241V 0.49 0.57 0.51 0.57 0.46 0.31 0.4721 0.5538 0.5268 0.5512 0.5762 0.4611 0.4142 0.3409 0.49 0.55 0.46 0.52 0.41 rs1051409 COSM3721963 1(breast);2(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4745 0.5535 0.5184 0.4262 0.5509 0.5897 0.4616 0.4446 0.3285 0.5106 0.5429 0.4772 0.4533 0.5268 0.5842 0.4774 0.4867 het 888.15 65 12 6933787 . A G 888.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.617;DP=65;Dels=0.00;FS=7.987;HRun=0;HaplotypeScore=0.6651;MQ=59.43;MQ0=0;MQRankSum=0.814;QD=13.66;ReadPosRankSum=-1.688;VQSLOD=3.7995;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,34:65:99:918,0,749 12 6939850 6939850 A G exonic P3H3 unknown UNKNOWN 0.64 0.82 0.66 0.71 0.48 0.49 0.5375 0.7616 0.7180 0.6964 0.4700 0.4698 0.5216 0.4958 0.56 0.75 0.47 0.63 . rs10744716 . . . . . . . . . . . . . . . . 0.07 0.224 B 0.024 0.190 B 0.293 0.147 N 1 0.090 P . . . . . . . . . 0.217 0.311 -1.041 0.171 T 0.000 0.000 T . . . 1.495 0.242 13.29 0.900 0.187 0.076 0.135 N c -0.748 -0.791 1.000 0.489 0.707 0.730 0 2.35 0.280 0.417 0.208 1.140 0.893 0.000 0.063 0.305 0.238 4.585 0.116 . ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000110811.15|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000110811.15|ENSG00000111664.6|ENSG00000111664.6|ENSG00000110811.15|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000111664.6|ENSG00000110811.15|ENSG00000111664.6|ENSG00000110811.15 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.5385 0.7635 0.6993 0.4446 0.6950 0.4662 0.4708 0.5208 0.4950 0.5641 0.7483 0.6866 0.4564 0.7224 0.4745 0.4607 0.4908 hom 1072.40 32 12 6939850 . A G 1072.40 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=58.55;MQ0=0;QD=33.51;VQSLOD=9.5924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:87.26:1105,87,0 12 6941021 6941021 G A exonic P3H3 unknown UNKNOWN 0.3 0.3 0.29 0.35 0.28 0.31 0.3277 0.3207 0.3524 0.3684 0.3318 0.3107 0.3612 0.3575 0.26 0.25 0.26 0.32 . rs1047771 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2880 0.2753 0.3022 0.3355 0.3383 0.2631 0.2674 0.2912 0.3276 0.2761 0.2760 0.3094 0.3278 0.3550 0.2762 0.2656 0.2628 hom 793.83 27 12 6941021 . G A 793.83 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.40;VQSLOD=14.1376;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:63.20:827,63,0 12 6946247 6946247 G T exonic P3H3 unknown UNKNOWN 0.39 0.47 0.38 0.35 0.35 0.37 0.3528 0.4515 0.3553 0.3405 0.2890 0.3361 0.3638 0.3914 0.36 0.42 0.34 0.39 . rs1129646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3542 0.4446 0.3581 0.3995 0.3440 0.2768 0.3366 0.3528 0.3959 0.3584 0.4399 0.3885 0.3841 0.3584 0.2887 0.3277 0.3186 hom 1246.52 40 12 6946247 . G T 1246.52 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.16;VQSLOD=13.8802;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1280,105,0 12 7047143 7047143 C A exonic ATN1 synonymous SNV ATN1:NM_001007026:exon6:c.C2430A:p.R810R,ATN1:NM_001940:exon6:c.C2430A:p.R810R 0.16 0.11 0.2 0.011 0.38 0.14 0.3090 0.1779 0.28 0.0169 0.4725 0.4410 0.3256 0.2096 0.26 0.13 0.33 0.14 0.016 rs7969685 COSM3753464 1(liver);2(large_intestine) Likely benign not_specified RCV000116431.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2593 0.1225 0.1606 0.3634 0.0021 0.3298 0.3656 0.2904 0.1917 0.2700 0.1395 0.1802 0.4139 0.0037 0.3159 0.3662 0.2694 hom 282.68 10 12 7047143 . C A 282.68 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.27;VQSLOD=13.0819;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:316,27,0 12 7065635 7065635 T C exonic PTPN6 synonymous SNV PTPN6:NM_002831:exon9:c.T978C:p.G326G,PTPN6:NM_080548:exon9:c.T984C:p.G328G,PTPN6:NM_080549:exon9:c.T978C:p.G326G 0.95 0.88 0.95 1. 0.94 1. 0.9499 0.8747 0.9704 0.9998 0.9255 0.9438 0.9421 0.9887 0.92 0.88 0.94 0.9 0.89 rs2110072 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9508 0.8721 0.9686 0.9566 0.9997 0.9255 0.9432 0.9473 0.9882 0.9221 0.8686 0.9606 0.9768 1 0.9306 0.9383 0.9409 hom 5208.73 162 12 7065635 . T C 5208.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.711;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7314;MQ=59.38;MQ0=0;MQRankSum=1.625;QD=32.15;ReadPosRankSum=1.431;VQSLOD=8.4495;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,160:162:99:5176,397,0 12 7080210 7080210 - G exonic EMG1 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. . . rs60117710 COSN15648524;COSN20124163;COSN15658661;COSN15648509;COSN15648517;COSN15648505;COSN15648504;COSN15648523;COSN15648515;COSN15648514;COSN15648513;COSN15648518;COSN15648522;COSN15648516;COSN15648503;COSN15648508;COSN15648512;COSN15648521;COSN15648520;COSN15648510;COSN15648519;COSN15648507;COSN15648511;COSN15648506 1(bone);22(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9999 1.0000 1.0000 1 1 1 1 1 1 1 1 1 1 hom 754.17 19 12 7080210 . A AG 754.17 Mask AC=2;AF=1.00;AN=2;DP=19;FS=0.000;HRun=1;HaplotypeScore=104.1168;MQ=61.13;MQ0=0;QD=39.69;set=variant2 GT:AD:DP:GQ:PL 1/1:0,19:19:57.18:796,57,0 12 7551022 7551022 A T exonic CD163L1 nonsynonymous SNV CD163L1:NM_001297650:exon7:c.T1597A:p.L533M,CD163L1:NM_174941:exon7:c.T1567A:p.L523M 0.99 0.98 1. 1. 1. 1. 0.9977 0.9747 0.9990 1 1 1.0000 0.9989 1 0.99 0.97 1. 1. 0.98 rs6488268 . . . . . . . . . . . . . 0.214 0.193 T 0.724 0.405 P 0.484 0.486 P 0.136 0.028 N 1 0.090 P 1.625 0.417 L 1.45 0.325 T -0.34 0.127 N 0.163 0.198 -0.902 0.478 T 0.000 0.000 T . . . -0.526 0.054 0.189 0.981 0.381 0.004 0.021 N c -1.062 -1.291 0.000 0.035 0.706 0.609 0 -0.69 0.107 -5.357 0.002 -1.194 0.016 0.000 0.063 0.000 0.016 3.136 0.060 SRCR domain|SRCR-like domain . . 0.9982 0.9733 0.9992 1 1 1 1.0000 0.9998 1.0000 0.9940 0.9786 1 1 1 1 1 1 hom 6475.83 204 12 7551022 . A T 6475.83 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5765;MQ=59.43;MQ0=0;QD=31.74;VQSLOD=9.0210;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:6475,527,0 12 7551050 7551050 A C exonic CD163L1 synonymous SNV CD163L1:NM_001297650:exon7:c.T1569G:p.V523V,CD163L1:NM_174941:exon7:c.T1539G:p.V513V 0.99 0.98 1. 1. 1. 1. 0.9976 0.9740 0.9989 1 1 1.0000 0.9989 1 0.99 0.97 1. 1. 0.98 rs6488269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9982 0.9726 0.9992 1 1 1 1.0000 0.9998 1.0000 0.9938 0.9781 1 1 1 1 1 1 hom 5639.99 175 12 7551050 . A C 5639.99 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8824;MQ=59.34;MQ0=0;QD=32.23;VQSLOD=8.8253;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,174:175:99:5640,430,0 12 7585971 7585971 A G exonic CD163L1 synonymous SNV CD163L1:NM_001297650:exon3:c.T444C:p.Y148Y,CD163L1:NM_174941:exon3:c.T444C:p.Y148Y 0.29 0.024 0.35 0.34 0.55 0.28 0.4321 0.0964 0.2540 0.3590 0.5177 0.5346 0.4468 0.3208 0.4 0.11 0.55 0.29 0.48 rs10845159 COSM3753493 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4242 0.0937 0.2661 0.5242 0.3565 0.5113 0.5373 0.4661 0.3131 0.3967 0.1115 0.2912 0.5364 0.3745 0.4937 0.5406 0.4734 het 1419.45 142 12 7585971 . A G 1419.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.910;DP=142;Dels=0.00;FS=0.715;HRun=0;HaplotypeScore=2.9923;MQ=59.18;MQ0=0;MQRankSum=-0.771;QD=10.00;ReadPosRankSum=-1.871;VQSLOD=5.5928;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,61:142:99:1449,0,2229 12 7637769 7637769 G A exonic CD163 nonsynonymous SNV CD163:NM_004244:exon11:c.C2702T:p.T901M,CD163:NM_203416:exon11:c.C2702T:p.T901M 0.11 0.028 0.28 0.015 0.13 0.19 0.1392 0.0505 0.3062 0.0216 0.1552 0.1208 0.1479 0.2073 0.091 0.051 0.11 0.11 0.11 rs61729512 COSM3998944;COSM1364265 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.037 0.433 D 0.403 0.452 B 0.075 0.373 B 0.213 0.163 N 1 0.090 P 2.6 0.763 M 1.21 0.372 T -2.13 0.505 N 0.052 0.112 -1.062 0.112 T 0.000 0.000 T . . . 1.839 0.282 15.22 0.939 0.233 0.115 0.165 N c -0.658 -0.757 0.003 0.098 0.487 0.133 0 2.77 0.315 0.794 0.264 -0.221 0.097 0.000 0.063 0.006 0.095 9.513 0.381 SRCR domain|SRCR-like domain . . 0.1473 0.0464 0.3011 0.1202 0.0222 0.1559 0.1191 0.1359 0.2063 0.0997 0.0471 0.2734 0.1060 0.0247 0.1512 0.1142 0.1375 het 2532.95 162 12 7637769 . G A 2532.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.276;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=60.00;MQ0=0;MQRankSum=0.399;QD=15.64;ReadPosRankSum=1.357;VQSLOD=5.7206;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,90:162:99:2563,0,1889 12 7640589 7640589 C T exonic CD163 synonymous SNV CD163:NM_004244:exon7:c.G1515A:p.S505S,CD163:NM_203416:exon7:c.G1515A:p.S505S 0.058 0.0015 0.06 0.0069 0.1 0.14 0.0880 0.0161 0.0401 0.0114 0.1346 0.1014 0.1128 0.1326 0.067 0.018 0.091 0.076 0.098 rs7980201 COSM3998945;COSM3998946 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0876 0.0141 0.0452 0.1101 0.0124 0.1339 0.0984 0.0876 0.1326 0.0716 0.0151 0.0680 0.1026 0.0136 0.1347 0.0935 0.1049 het 1480.61 112 12 7640589 . C T 1480.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.534;DP=112;Dels=0.00;FS=3.677;HRun=0;HaplotypeScore=0.9992;MQ=58.78;MQ0=0;MQRankSum=-1.321;QD=13.22;ReadPosRankSum=-0.576;VQSLOD=5.1821;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,57:112:99:1511,0,1316 12 7649484 7649484 T C exonic CD163 nonsynonymous SNV CD163:NM_004244:exon5:c.A1024G:p.I342V,CD163:NM_203416:exon5:c.A1024G:p.I342V 0.76 0.56 0.85 0.69 0.97 0.84 0.8870 0.61 0.8005 0.6962 0.9734 0.9689 0.9328 0.8536 0.85 0.63 0.97 0.7 0.97 rs4883263 . . . . . . . . . . . . . 0.2 0.219 T 0.0 0.112 B 0.002 0.121 B 0.033 0.249 N 1 0.090 P 1.16 0.298 L 1.31 0.354 T -0.52 0.174 N 0.035 0.015 -1.020 0.237 T 0.000 0.000 T . . . -0.763 0.042 0.052 0.507 0.044 0.065 0.123 N c -1.324 -1.355 0.998 0.364 0.487 0.133 0 -1.5 0.082 -1.068 0.035 -2.450 0.003 0.000 0.063 0.033 0.150 11.112 0.473 SRCR domain|SRCR-like domain . . 0.8899 0.6024 0.8039 0.9732 0.6914 0.9744 0.9691 0.9219 0.8573 0.8512 0.6187 0.8186 0.9636 0.6836 0.9711 0.9699 0.9398 hom 4719.12 146 12 7649484 . T C 4719.12 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5335;MQ=59.29;MQ0=0;QD=32.32;VQSLOD=8.9692;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4719,361,0 12 7649653 7649653 T C exonic CD163 synonymous SNV CD163:NM_004244:exon5:c.A855G:p.G285G,CD163:NM_203416:exon5:c.A855G:p.G285G 0.48 0.12 0.72 0.38 0.77 0.6 0.6705 0.2085 0.7103 0.3816 0.8203 0.7648 0.7170 0.6411 0.58 0.22 0.76 0.43 0.74 rs4883264 COSM5653040;COSM5653041 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6824 0.2010 0.7072 0.7356 0.3727 0.8081 0.7675 0.7312 0.6435 0.5954 0.2215 0.7055 0.7682 0.3683 0.7902 0.7728 0.7327 hom 7228.92 222 12 7649653 . T C 7228.92 Mask AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.5053;MQ=58.94;MQ0=0;QD=32.56;VQSLOD=6.4827;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:7228,560,0 12 7803646 7803646 G A exonic APOBEC1 synonymous SNV APOBEC1:NM_005889:exon3:c.C399T:p.Y133Y,APOBEC1:NM_001644:exon4:c.C534T:p.Y178Y,APOBEC1:NM_001304566:exon5:c.C534T:p.Y178Y 0.24 0.15 0.19 0.23 0.26 0.4 0.2381 0.1477 0.1670 0.2077 0.2008 0.2345 0.2599 0.3892 0.21 0.14 0.24 0.18 0.2 rs10431309 COSM147408 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2377 0.1429 0.1668 0.2930 0.2132 0.2077 0.2351 0.2330 0.3906 0.2018 0.1460 0.1790 0.28 0.2042 0.2066 0.2301 0.2403 het 2638.41 188 12 7803646 . G A 2638.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.706;DP=188;DS;Dels=0.00;FS=3.627;HRun=0;HaplotypeScore=5.5571;MQ=59.39;MQ0=0;MQRankSum=-0.169;QD=14.03;ReadPosRankSum=0.091;VQSLOD=4.7763;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:91,97:188:99:2668,0,2417 12 7805236 7805236 C G exonic APOBEC1 nonsynonymous SNV APOBEC1:NM_005889:exon2:c.G105C:p.M35I,APOBEC1:NM_001644:exon3:c.G240C:p.M80I,APOBEC1:NM_001304566:exon4:c.G240C:p.M80I 0.66 0.5 0.62 0.56 0.89 0.77 0.7853 0.5447 0.5365 0.5671 0.8507 0.8857 0.8695 0.7881 0.78 0.56 0.89 0.62 0.82 rs2302515 COSM3736078 1(skin) . . . . . . . . . . . 0.569 0.062 T 0.0 0.026 B 0.0 0.013 B 0.804 0.068 N 1 0.090 P -1.95 0.002 N -0.03 0.631 T -0.35 0.129 N 0.051 0.032 -0.972 0.369 T 0.000 0.000 T . . . -0.248 0.072 0.868 0.572 0.056 0.001 0.007 N c -1.290 -1.189 0.000 0.012 0.487 0.133 0 2.61 0.301 -0.182 0.096 -0.371 0.067 0.000 0.063 0.025 0.141 4.417 0.108 APOBEC-like\x2c N-terminal|APOBEC/CMP deaminase\x2c zinc-binding|Cytidine and deoxycytidylate deaminases\x2c zinc-binding|Cytidine deaminase-like . . 0.7826 0.5386 0.5565 0.9439 0.5618 0.8517 0.8850 0.8316 0.7921 0.7550 0.5515 0.6017 0.9603 0.5667 0.8439 0.8723 0.8269 het 489.30 53 12 7805236 . C G 489.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.137;DP=53;Dels=0.00;FS=4.550;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=0.664;QD=9.23;ReadPosRankSum=-1.628;VQSLOD=4.8072;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,21:53:99:519,0,957 12 7842932 7842932 C T exonic GDF3 nonsynonymous SNV GDF3:NM_020634:exon2:c.G637A:p.G213R 0.23 0.18 0.17 0.15 0.33 0.31 0.2642 0.1797 0.1166 0.1505 0.2930 0.2993 0.2830 0.3258 0.27 0.18 0.31 0.27 0.26 rs12819884 COSM147409 1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.324 0.134 T 0.001 0.067 B 0.007 0.121 B 0.867 0.071 N 1 0.090 P 1.14 0.291 L -0.12 0.646 T -1.04 0.273 N 0.028 0.009 -1.004 0.287 T 0.000 0.000 T . . . 0.685 0.159 8.732 0.826 0.138 0.064 0.122 N c -1.140 -1.110 0.000 0.029 0.706 0.609 0 1.64 0.228 0.441 0.212 -0.582 0.045 0.000 0.063 0.033 0.150 5.392 0.154 Transforming growth factor-beta\x2c N-terminal . . 0.2614 0.1756 0.1261 0.26 0.1506 0.2932 0.3063 0.2681 0.3271 0.2539 0.1790 0.1734 0.2450 0.1592 0.2987 0.3012 0.2633 het 1446.14 97 12 7842932 . C T 1446.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.194;DP=97;Dels=0.00;FS=2.664;HRun=1;HaplotypeScore=0.5784;MQ=59.76;MQ0=0;MQRankSum=-0.496;QD=14.91;ReadPosRankSum=-1.834;VQSLOD=6.0050;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,52:97:99:1476,0,1293 12 7894056 7894056 G A exonic CLEC4C nonsynonymous SNV CLEC4C:NM_203503:exon3:c.C103T:p.P35S,CLEC4C:NM_130441:exon4:c.C196T:p.P66S 0.19 0.045 0.33 0.2 0.3 0.15 0.2434 0.0846 0.3514 0.2085 0.1910 0.2808 0.2621 0.1545 0.22 0.09 0.29 0.22 0.29 rs73056605 COSM147410 1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.039 T 0.0 0.195 B 0.004 0.139 B . . . 1 0.090 P -0.895 0.014 N 4.49 0.022 T 0.98 0.016 N 0.038 0.018 -0.975 0.362 T 0.000 0.000 T . . . -2.258 0.005 0.001 0.110 0.002 0.000 0.003 N c -1.767 -1.736 0.000 0.012 0.554 0.246 0 -1.29 0.088 -0.057 0.116 -0.617 0.043 0.000 0.063 0.001 0.043 4.844 0.128 . ENSG00000198178.6|ENSG00000198178.6 Lung|Whole_Blood 0.2535 0.0776 0.3464 0.3729 0.2119 0.1936 0.2824 0.2962 0.1553 0.1961 0.0807 0.3177 0.3642 0.1910 0.1821 0.2553 0.2200 het 2281.61 195 12 7894056 . G A 2281.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.004;DP=195;Dels=0.00;FS=0.530;HRun=1;HaplotypeScore=2.3046;MQ=59.69;MQ0=0;MQRankSum=1.103;QD=11.70;ReadPosRankSum=0.786;VQSLOD=6.1856;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,93:195:99:2312,0,2527 12 7945559 7945559 T C exonic NANOG synonymous SNV NANOG:NM_001297698:exon2:c.T165C:p.P55P,NANOG:NM_024865:exon2:c.T165C:p.P55P 0.38 0.33 0.53 0.054 0.59 0.46 0.5126 0.3546 0.5219 0.0292 0.5798 0.5883 0.5419 0.5236 0.51 0.36 0.58 0.41 0.57 rs4294629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5132 0.3457 0.5174 0.6439 0.0268 0.5674 0.5846 0.5655 0.5191 0.4869 0.3560 0.5371 0.6424 0.0222 0.5685 0.5839 0.5530 hom 5007.32 164 12 7945559 . T C 5007.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.386;DP=164;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4424;MQ=41.78;MQ0=4;MQRankSum=-0.758;QD=30.53;ReadPosRankSum=1.451;VQSLOD=3.0790;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:2,162:164:99:4967,355,0 12 8278181 8278181 A T exonic CLEC4A nonsynonymous SNV CLEC4A:NM_016184:exon2:c.A107T:p.H36L,CLEC4A:NM_194450:exon2:c.A107T:p.H36L 0.51 0.35 0.52 0.52 0.68 0.53 0.5970 0.3894 0.4449 0.5373 0.6309 0.6783 0.6465 0.5211 0.58 0.4 0.67 0.45 0.55 rs2024301 COSM5003864 1(pancreas) . . . . . . . . . . . 0.067 0.359 T 0.97 0.550 D 0.714 0.528 P . . . 1 0.090 P 1.665 0.427 L 5.47 0.494 T -3.59 0.977 D 0.365 0.426 -0.932 0.438 T 0.000 0.000 T . . . -0.392 0.062 0.404 0.480 0.039 0.013 0.044 N c -0.561 -0.791 1.000 0.423 0.554 0.246 0 -1.34 0.086 0.170 0.164 1.197 0.919 0.032 0.204 0.118 0.195 3.868 0.085 . ENSG00000089818.12|ENSG00000089818.12|ENSG00000089818.12|ENSG00000089818.12|ENSG00000171860.4|ENSG00000235602.4|ENSG00000235602.4|ENSG00000065970.4|ENSG00000171860.4|ENSG00000089818.12 Artery_Aorta|Artery_Tibial|Colon_Sigmoid|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Whole_Blood|Whole_Blood|Whole_Blood 0.5923 0.3844 0.4547 0.6468 0.5318 0.6322 0.6776 0.6355 0.5156 0.5744 0.3968 0.4725 0.6589 0.5068 0.6222 0.6741 0.6304 hom 2283.46 70 12 8278181 . A T 2283.46 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7256;MQ=58.80;MQ0=0;QD=32.62;VQSLOD=9.5264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2316,181,0 12 8278195 8278195 G A exonic CLEC4A nonsynonymous SNV CLEC4A:NM_016184:exon2:c.G121A:p.G41R,CLEC4A:NM_194450:exon2:c.G121A:p.G41R 0.0046 . 0.0086 . 0.017 . 0.0071 0.0020 0.0029 0 0.0065 0.0114 0.0022 0.0001 0.0095 0.0025 0.013 0.011 0.0082 rs117213717 . . . . . . . . . . . . . 0.12 0.654 T 0.933 0.501 P 0.245 0.371 B . . . 1 0.090 N 2.19 0.618 M 5.44 0.556 T -2.7 0.823 D 0.392 0.452 -1.029 0.208 T 0.056 0.234 T . . . 1.872 0.286 15.42 0.423 0.031 0.012 0.042 N c -0.680 -0.854 1.000 0.415 0.554 0.246 0 0.236 0.147 -0.153 0.100 0.134 0.217 0.000 0.063 0.001 0.043 7.220 0.250 . . . 0.0070 0.0016 0.0032 0.0004 0 0.0060 0.0126 0.0077 0.0001 0.0069 0.0030 0.0048 0 0 0.0063 0.0103 0.0081 het 1158.48 82 12 8278195 . G A 1158.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.547;DP=82;Dels=0.00;FS=0.872;HRun=0;HaplotypeScore=4.7687;MQ=58.44;MQ0=0;MQRankSum=-0.466;QD=14.13;ReadPosRankSum=-0.643;VQSLOD=4.9174;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:37,45:82:99:1188,0,885 12 8374770 8374770 G A exonic FAM90A1 nonsynonymous SNV FAM90A1:NM_001319982:exon6:c.C1043T:p.T348I,FAM90A1:NM_018088:exon7:c.C1043T:p.T348I 0.99 0.95 1. 1. 1. 1. 0.9964 0.9610 0.9987 1 1 0.9997 0.9989 0.9999 0.99 0.96 1. 0.75 0.98 rs9668474 . . . . . . . . . . . . . 0.183 0.217 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.355 0.339 L 2.78 0.113 T 0.58 0.026 N 0.038 0.018 -1.061 0.114 T 0.000 0.000 T . . . -0.165 0.079 1.296 0.521 0.046 0.000 0.001 N c -1.580 -1.625 0.000 0.012 0.554 0.246 0 1.02 0.190 -1.289 0.029 -0.283 0.084 0.000 0.063 0.000 0.016 3.144 0.060 . . . 0.9972 0.9614 0.9990 1 1 1 0.9996 0.9978 0.9998 0.9903 0.9663 1 1 0.9994 1 0.9998 0.9980 hom 1796 59 12 8374770 . G A 1796 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.83;MQ0=0;QD=30.44;VQSLOD=6.6267;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1829,159,0 12 8374781 8374781 - ACG exonic FAM90A1 nonframeshift insertion FAM90A1:NM_001319982:exon6:c.1031_1032insCGT:p.T344_S345insV,FAM90A1:NM_018088:exon7:c.1031_1032insCGT:p.T344_S345insV 0.43 0.08 0.51 0.58 0.7 0.43 0.5769 0.1599 0.3942 0.5080 0.6462 0.7047 0.6061 0.4603 0.52 0.18 0.7 0.21 0.65 rs71265055 COSM943980 5(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5413 0.1773 0.4639 0.6267 0.5299 0.6560 0.7221 0.6571 hom 3846.83 55 12 8374781 . C CACG 3846.83 Mask AC=2;AF=1.00;AN=2;DP=55;FS=0.000;HRun=0;HaplotypeScore=346.8293;MQ=48.53;MQ0=0;QD=69.94;set=variant2 GT:AD:DP:GQ:PL 1/1:3,48:55:99:3847,163,0 12 8376110 8376110 T C exonic FAM90A1 nonsynonymous SNV FAM90A1:NM_001319982:exon5:c.A367G:p.R123G,FAM90A1:NM_018088:exon6:c.A367G:p.R123G 0.68 0.28 0.68 0.98 0.88 0.72 0.7813 0.3403 0.5687 0.9856 0.8468 0.8605 0.8156 0.7415 0.68 0.35 0.86 0.087 0.8 rs9738115 . . . . . . . . . . . . . 0.208 0.198 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 2.82 0.109 T -0.06 0.079 N 0.018 0.003 -1.021 0.232 T 0.000 0.000 T . . . -1.794 0.011 0.002 0.448 0.034 0.000 0.002 N c -2.071 -2.162 0.000 0.053 0.554 0.246 0 -2.12 0.067 -1.170 0.032 -0.728 0.036 0.000 0.063 0.000 0.016 2.628 0.046 . ENSG00000226711.2 Artery_Aorta 0.7849 0.3335 0.5913 0.8821 0.9840 0.8500 0.8620 0.8156 0.7438 0.7139 0.3460 0.6331 0.8775 0.9858 0.8503 0.8601 0.8292 hom 1659.35 67 12 8376110 . T C 1659.35 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.102;DP=67;Dels=0.00;FS=3.505;HRun=2;HaplotypeScore=0.8941;MQ=47.44;MQ0=0;MQRankSum=-0.262;QD=24.77;ReadPosRankSum=0.367;VQSLOD=2.4475;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,65:67:99:1692,102,0 12 8757481 8757481 G A exonic AICDA synonymous SNV AICDA:NM_001330343:exon4:c.C435T:p.H145H,AICDA:NM_020661:exon4:c.C465T:p.H155H 0.48 0.28 0.65 0.48 0.62 0.51 0.5904 0.3273 0.6619 0.5021 0.6084 0.6375 0.6083 0.5432 0.55 0.34 0.64 0.47 0.42 rs2028373 . . Benign|Benign not_specified|Immunodeficiency_with_Hyper-IgM RCV000242942.2|RCV000317701.1 MedGen|MedGen CN169374|CN239447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5966 0.3122 0.6652 0.6011 0.5023 0.6117 0.6408 0.5979 0.5424 0.5350 0.3175 0.6547 0.6342 0.5057 0.6154 0.6414 0.5569 hom 2737.21 92 12 8757481 . G A 2737.21 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0024;MQ=58.17;MQ0=0;QD=29.75;VQSLOD=6.7640;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2770,220,0 12 8926011 8926011 T C exonic RIMKLB synonymous SNV RIMKLB:NM_001297776:exon6:c.T792C:p.D264D,RIMKLB:NM_020734:exon6:c.T792C:p.D264D 1. 0.99 1. 1. 1. 1. 0.9996 0.9945 1 1 1 1 1 1 1. 1. 1. 1. 1. rs2969089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9948 1 1 1 1 1 1 1 0.9985 0.9945 1 1 1 1 1 1 hom 7197.55 212 12 8926011 . T C 7197.55 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6195;MQ=59.64;MQ0=0;QD=33.95;VQSLOD=9.2045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:7197,566,0 12 9004512 9004512 G A exonic A2ML1 synonymous SNV A2ML1:NM_001282424:exon8:c.G894A:p.P298P,A2ML1:NM_144670:exon19:c.G2367A:p.P789P 0.87 0.7 0.9 1. 0.84 0.97 0.8700 0.7268 0.9351 0.9999 0.8215 0.8444 0.89 0.9637 0.81 0.74 0.84 0.9 0.83 rs1860927 . . Benign not_specified RCV000435200.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8743 0.7224 0.9312 0.9460 0.9999 0.8257 0.8366 0.8796 0.9657 0.8070 0.7251 0.9151 0.9404 0.9988 0.8377 0.8164 0.8310 hom 6092.98 194 12 9004512 . G A 6092.98 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.461;DP=194;Dels=0.00;FS=4.118;HRun=0;HaplotypeScore=8.5602;MQ=59.16;MQ0=0;MQRankSum=1.624;QD=31.41;ReadPosRankSum=0.956;VQSLOD=3.5412;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,192:194:99:6059,457,0 12 9013755 9013755 C T exonic A2ML1 nonsynonymous SNV A2ML1:NM_001282424:exon17:c.C1891T:p.R631W,A2ML1:NM_144670:exon28:c.C3364T:p.R1122W 0.43 0.11 0.52 0.79 0.39 0.49 0.4321 0.1486 0.6573 0.7849 0.4291 0.3758 0.4278 0.4874 0.3 0.15 0.37 0.41 0.34 rs1860967 COSM4997875 2(pancreas) Benign not_specified RCV000424570.1 MedGen CN169374 . . . . . . 0.206 0.230 T 0.919 0.489 P 0.601 0.490 P 0.787 0.067 N 1 0.090 P 1.24 0.311 L 1.17 0.379 T 0.78 0.019 N 0.199 0.244 -0.976 0.360 T 0.000 0.000 T . . . 4.738 0.635 24.7 0.969 0.310 0.094 0.150 N c -0.379 -0.566 0.005 0.107 0.635 0.413 0 0.387 0.154 -0.131 0.104 -0.056 0.122 0.000 0.063 0.012 0.117 2.615 0.046 Alpha-macroglobulin complement component|Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid . . 0.4425 0.1466 0.6377 0.3240 0.7814 0.4212 0.3753 0.4193 0.4881 0.3449 0.1574 0.5873 0.3046 0.7685 0.4250 0.3719 0.4153 het 2654.44 193 12 9013755 . C T 2654.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.311;DP=193;Dels=0.00;FS=0.540;HRun=0;HaplotypeScore=10.0677;MQ=59.66;MQ0=0;MQRankSum=0.903;QD=13.75;ReadPosRankSum=-0.200;VQSLOD=4.2205;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,96:193:99:2684,0,2544 12 9016573 9016573 A G exonic A2ML1 nonsynonymous SNV A2ML1:NM_001282424:exon18:c.A2213G:p.H738R,A2ML1:NM_144670:exon29:c.A3686G:p.H1229R 0.97 0.88 0.99 1. 1. 1. 0.9911 0.8981 0.9955 1 1 0.9997 0.9967 0.9998 0.97 0.9 1. 0.9 0.98 rs10219561 COSM5021742 1(bone) Benign not_specified RCV000226756.2 MedGen CN169374 . . . . . . 0.235 0.279 T 0.0 0.026 B 0.0 0.013 B 0.277 0.150 N 1 0.090 P -2.71 0.000 N 1.47 0.320 T 1.59 0.007 N 0.04 0.080 -0.939 0.429 T 0.000 0.000 T . . . 0.389 0.131 6.517 0.853 0.153 0.292 0.235 N c -1.191 -1.003 0.000 0.048 0.706 0.609 0 -1.05 0.095 1.460 0.346 0.041 0.156 0.894 0.310 0.987 0.523 10.519 0.439 Alpha-2-macroglobulin;Alpha-macroglobulin complement component|Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid . . 0.9927 0.8960 0.9955 0.9999 1 1.0000 0.9998 0.9978 0.9999 0.9696 0.8940 0.9928 1 0.9994 1 0.9997 0.9949 hom 2299.41 64 12 9016573 . A G 2299.41 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.64;MQ0=0;QD=35.93;VQSLOD=9.6522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2332,187,0 12 9020489 9020489 A G exonic A2ML1 nonsynonymous SNV A2ML1:NM_001282424:exon19:c.A2296G:p.M766V,A2ML1:NM_144670:exon30:c.A3769G:p.M1257V 0.85 0.63 0.9 1. 0.84 0.97 0.8591 0.6365 0.9292 0.9998 0.8275 0.8383 0.8956 0.9636 0.78 0.65 0.84 0.87 0.82 rs7308811 . . Benign not_specified RCV000435267.1 MedGen CN169374 . . . . . . 0.315 0.138 T 0.0 0.026 B 0.0 0.013 B 0.058 0.021 N 1 0.090 P -1.5 0.005 N 1.63 0.280 T -0.11 0.087 N 0.033 0.013 -0.931 0.440 T 0.000 0.000 T . . . -1.586 0.015 0.002 0.363 0.023 0.023 0.065 N c -1.423 -1.401 0.002 0.095 0.706 0.609 0 -0.406 0.117 0.197 0.169 -0.303 0.080 0.000 0.063 0.004 0.083 7.339 0.256 Alpha-2-macroglobulin . . 0.8658 0.6337 0.9246 0.9380 0.9999 0.8312 0.8318 0.8763 0.9651 0.7851 0.6449 0.9105 0.9371 0.9981 0.8437 0.8165 0.8337 hom 4868.16 170 12 9020489 . A G 4868.16 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.00;MQ0=0;QD=28.64;VQSLOD=8.6792;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:170:99:4867,394,0 12 9020912 9020912 A G exonic A2ML1 synonymous SNV A2ML1:NM_001282424:exon20:c.A2547G:p.Q849Q,A2ML1:NM_144670:exon31:c.A4020G:p.Q1340Q 0.68 0.63 0.68 0.54 0.77 0.78 0.7352 0.6317 0.6147 0.4974 0.6751 0.7910 0.7684 0.8020 0.75 0.65 0.79 0.76 0.74 rs1476910 COSM1364799 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) Benign not_specified RCV000418011.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7312 0.6286 0.6282 0.8550 0.4936 0.6857 0.7903 0.7641 0.8006 0.7066 0.6378 0.6563 0.86 0.4765 0.6905 0.7743 0.7168 het 3228.29 240 12 9020912 . A G 3228.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.274;DP=240;DS;Dels=0.00;FS=5.311;HRun=0;HaplotypeScore=2.7024;MQ=58.68;MQ0=0;MQRankSum=0.635;QD=13.45;ReadPosRankSum=-1.309;VQSLOD=5.1982;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,118:240:99:3259,0,3365 12 9070366 9070366 T A exonic PHC1 synonymous SNV PHC1:NM_004426:exon2:c.T93A:p.L31L 0.69 0.55 0.59 0.75 0.72 0.85 0.7188 0.5921 0.6279 0.7566 0.6909 0.7217 0.7392 0.8384 0.68 0.6 0.73 0.71 0.66 rs4883198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7093 0.5749 0.6175 0.7998 0.7424 0.6855 0.7120 0.7220 0.8269 0.6669 0.5810 0.6563 0.7914 0.7568 0.6881 0.7005 0.6612 hom 1350.90 48 12 9070366 . T A 1350.90 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.35;MQ0=0;QD=28.14;VQSLOD=7.2001;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1384,111,0 12 9086898 9086898 A G exonic PHC1 nonsynonymous SNV PHC1:NM_004426:exon10:c.A2077G:p.T693A 0.35 0.16 0.38 0.41 0.43 0.47 0.4013 0.1824 0.4254 0.4002 0.4254 0.4259 0.4152 0.4139 0.36 0.2 0.44 0.39 0.45 rs1049925 . . . . . . . . . . . . . 0.314 0.176 T 0.0 0.026 B 0.0 0.013 B 0.021 0.268 N 1.000 0.090 P -0.435 0.028 N 1.99 0.217 T 0.11 0.057 N 0.026 0.184 -0.908 0.471 T 0.000 0.000 T . . . -0.795 0.040 0.044 0.880 0.171 0.067 0.126 N c -0.957 -0.889 0.570 0.215 0.672 0.522 0 0.937 0.185 -0.505 0.064 0.157 0.243 0.000 0.063 0.993 0.574 3.352 0.067 . ENSG00000139187.5|ENSG00000139187.5|ENSG00000139187.5|ENSG00000139187.5|ENSG00000139187.5|ENSG00000139187.5|ENSG00000139187.5|ENSG00000111752.6|ENSG00000139187.5|ENSG00000139187.5|ENSG00000256720.1|ENSG00000257027.1|ENSG00000139187.5|ENSG00000256427.1|ENSG00000237248.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Whole_Blood|Whole_Blood 0.4061 0.1784 0.4263 0.4445 0.3919 0.4286 0.4231 0.4347 0.4107 0.3721 0.1920 0.4507 0.4901 0.4059 0.4799 0.4392 0.4051 hom 4714.34 156 12 9086898 . A G 4714.34 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=49.79;MQ0=0;QD=30.22;VQSLOD=3.1233;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4713,385,0 12 9142297 9142297 T C exonic KLRG1 synonymous SNV KLRG1:NM_001329099:exon1:c.T66C:p.Y22Y,KLRG1:NM_005810:exon1:c.T66C:p.Y22Y 0.35 0.14 0.38 0.4 0.43 0.46 0.4233 0.1699 0.4621 0.4026 0.4728 0.4503 0.4360 0.4360 0.35 0.17 0.45 0.38 0.45 rs1805723 COSM3998982;COSM3998983 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4251 0.1655 0.4517 0.4738 0.3846 0.4710 0.4434 0.4539 0.4289 0.3606 0.1711 0.4474 0.4934 0.3784 0.4742 0.4323 0.4041 hom 4437.60 151 12 9142297 . T C 4437.60 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5777;MQ=59.14;MQ0=0;QD=29.39;VQSLOD=8.9827;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:4437,355,0 12 9161648 9161648 T C exonic KLRG1 synonymous SNV KLRG1:NM_001329099:exon4:c.T435C:p.D145D,KLRG1:NM_001329101:exon4:c.T198C:p.D66D,KLRG1:NM_001329103:exon4:c.T198C:p.D66D,KLRG1:NM_005810:exon4:c.T435C:p.D145D,KLRG1:NM_001329102:exon5:c.T198C:p.D66D 0.25 0.054 0.3 0.38 0.26 0.35 0.2909 0.0747 0.3955 0.3716 0.2643 0.2924 0.2991 0.3167 0.22 0.076 0.3 0.29 0.28 rs3026251 COSM5654223;COSM5654222 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2967 0.0713 0.3897 0.3301 0.3610 0.2635 0.2887 0.3252 0.3091 0.2268 0.0779 0.3699 0.3510 0.3537 0.2711 0.2761 0.2706 hom 1368.96 49 12 9161648 . T C 1368.96 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.05;MQ0=0;QD=27.94;VQSLOD=7.9297;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1402,120,0 12 9248233 9248233 T C exonic A2M nonsynonymous SNV A2M:NM_001347425:exon15:c.A1465G:p.N489D,A2M:NM_000014:exon16:c.A1915G:p.N639D,A2M:NM_001347424:exon16:c.A1615G:p.N539D,A2M:NM_001347423:exon17:c.A1915G:p.N639D 1. 0.99 1. 1. 1. 1. 0.9995 0.9939 1 1 1 1 1 1 1. 0.99 1. 0.99 . rs226405 . . . . . . . . . . . . . 0.758 0.035 T 0.0 0.026 B 0.0 0.013 B 0.084 0.024 N 1 0.090 P -1.15 0.009 N 1.67 0.273 T -0.26 0.112 N 0.007 0.022 -1.018 0.244 T 0.000 0.000 T . . . -2.166 0.006 0.001 0.397 0.027 0.003 0.014 N c -1.985 -1.992 1.000 0.415 0.554 0.283 0 -6.26 0.018 -1.814 0.018 -2.375 0.003 0.000 0.063 0.000 0.016 2.435 0.042 . . . 0.9996 0.9945 0.9999 1 1 1 1 0.9996 1 0.9983 0.9940 1 1 1 1 1 1 hom 4218.82 136 12 9248233 . T C 4218.82 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=55.66;MQ0=0;QD=31.02;VQSLOD=4.2150;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4218,343,0 12 9305473 9305473 T C exonic PZP synonymous SNV PZP:NM_002864:exon31:c.A4068G:p.Q1356Q 0.66 0.53 0.59 0.89 0.63 0.65 0.6360 0.5457 0.6029 0.8890 0.6007 0.6191 0.6355 0.6664 0.6 0.55 0.63 0.63 0.67 rs10771357 COSM4147515;COSM4147514 1(breast);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6375 0.5424 0.6021 0.6786 0.8945 0.6100 0.6161 0.6376 0.6634 0.5968 0.5441 0.6169 0.6667 0.8872 0.6084 0.5924 0.5704 hom 4702.14 141 12 9305473 . T C 4702.14 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9957;MQ=59.18;MQ0=0;QD=33.35;VQSLOD=9.6401;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4702,370,0 12 9307373 9307373 T G exonic PZP nonsynonymous SNV PZP:NM_002864:exon29:c.A3613C:p.T1205P 0.98 0.94 1. 1. 1. 1. 0.9943 0.9375 0.9967 1 1 0.9999 0.9978 0.9999 0.98 0.93 1. 0.97 1. rs2377741 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.577 0.055 N 1 0.090 P -2.59 0.000 N 1.28 0.360 T 5.7 0.000 N 0.038 0.018 -0.905 0.475 T 0.000 0.000 T . . . -0.505 0.055 0.214 0.682 0.083 0.001 0.009 N c -1.599 -1.430 0.000 0.050 0.516 0.203 0 0.627 0.168 0.389 0.203 -0.570 0.046 0.725 0.286 0.160 0.208 1.617 0.025 Alpha-macroglobulin complement component|Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid . . 0.9955 0.9356 0.9969 1 1 1 0.9999 0.9985 0.9998 0.9819 0.9368 0.9928 1 1 1 0.9999 0.9980 hom 2687.80 86 12 9307373 . T G 2687.80 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.78;MQ0=0;QD=31.25;VQSLOD=9.2006;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2721,214,0 12 9315209 9315209 A G exonic PZP synonymous SNV PZP:NM_002864:exon22:c.T2772C:p.S924S 0.41 0.39 0.37 0.42 0.4 0.45 0.4120 0.4172 0.3823 0.4119 0.3951 0.4230 0.3653 0.3942 0.43 0.42 0.43 0.33 0.44 rs10771381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4092 0.4181 0.3722 0.4686 0.4108 0.3977 0.4229 0.4081 0.3831 0.4071 0.4239 0.3897 0.4470 0.3994 0.4035 0.4002 0.3921 het 2076.95 185 12 9315209 . A G 2076.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.703;DP=185;Dels=0.00;FS=2.564;HRun=1;HaplotypeScore=1.1567;MQ=59.37;MQ0=0;MQRankSum=-0.943;QD=11.23;ReadPosRankSum=-1.026;VQSLOD=6.2847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,83:185:99:2107,0,2692 12 9316773 9316773 T C exonic PZP nonsynonymous SNV PZP:NM_002864:exon20:c.A2570G:p.N857S 0.4 0.39 0.36 0.42 0.4 0.45 0.4108 0.4105 0.3822 0.4082 0.3952 0.4227 0.3656 0.3930 0.43 0.42 0.43 0.33 0.43 rs3213831 COSM5654224 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.044 0.410 D 0.949 0.518 P 0.607 0.492 P 0.007 0.314 N 1 0.300 P 2.39 0.691 M 1.41 0.334 T -4.05 0.745 D 0.083 0.077 -0.939 0.428 T 0.000 0.000 T . . . 2.361 0.345 18.56 0.981 0.378 0.715 0.347 D c -0.096 -0.259 0.962 0.286 0.497 0.185 0 1.37 0.211 2.604 0.457 0.747 0.309 0.568 0.273 0.922 0.397 6.336 0.204 Immunoglobulin E-set ENSG00000111788.9|ENSG00000126838.5 Lung|Testis 0.4091 0.4108 0.3745 0.4688 0.4081 0.3973 0.4234 0.4075 0.3848 0.4047 0.4159 0.3909 0.4470 0.3969 0.4033 0.4 0.3939 het 2260.06 176 12 9316773 . T C 2260.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.753;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;MQRankSum=1.598;QD=12.84;ReadPosRankSum=-0.694;VQSLOD=6.6699;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,87:176:99:2290,0,2316 12 9345273 9345273 A G exonic PZP synonymous SNV PZP:NM_002864:exon12:c.T1317C:p.G439G 0.87 0.69 0.94 0.98 0.93 0.92 0.9103 0.7169 0.9612 0.9754 0.9527 0.9146 0.9328 0.9272 0.85 0.72 0.92 0.85 0.81 rs10771407 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9177 0.7130 0.9600 0.9015 0.9766 0.9534 0.9159 0.9247 0.9251 0.8673 0.7100 0.9427 0.88 0.9784 0.9493 0.9194 0.9232 hom 2636.82 90 12 9345273 . A G 2636.82 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;QD=29.30;VQSLOD=8.6990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2670,214,0 12 9750669 9750669 A G exonic KLRB1 nonsynonymous SNV KLRB1:NM_002258:exon5:c.T503C:p.I168T 0.4 0.15 0.5 0.53 0.42 0.53 0.4460 0.1858 0.5428 0.5479 0.4973 0.4310 0.4558 0.5225 0.34 0.17 0.43 0.29 0.2 rs1135816 . . . . . . . . . . . . . 0.001 0.784 D 0.953 0.523 P 0.802 0.564 P 0.005 0.334 N 0.948 0.266 P 2.19 0.618 M 1.76 0.260 T -3.97 0.736 D 0.09 0.092 -0.921 0.454 T 0.000 0.000 T . . . 4.756 0.638 24.7 0.996 0.747 0.559 0.297 D c 0.141 0.050 0.000 0.012 0.487 0.133 0 1.91 0.247 2.542 0.452 0.980 0.597 1.000 0.715 0.984 0.507 4.821 0.127 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000214776.5|ENSG00000214776.5|ENSG00000214826.4|ENSG00000111788.9|ENSG00000214776.5|ENSG00000214776.5|ENSG00000214776.5|ENSG00000214776.5|ENSG00000214776.5|ENSG00000214776.5|ENSG00000214776.5|ENSG00000111788.9|ENSG00000260423.1|ENSG00000214776.5|ENSG00000111788.9|ENSG00000260423.1|ENSG00000214776.5|ENSG00000214776.5|ENSG00000255753.1|ENSG00000214776.5|ENSG00000214776.5|ENSG00000256673.1|ENSG00000214776.5|ENSG00000256975.1|ENSG00000214826.4|ENSG00000111788.9|ENSG00000214776.5 Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid 0.4420 0.1691 0.5314 0.4800 0.5417 0.4875 0.4107 0.4482 0.5148 0.3698 0.1849 0.4964 0.5331 0.5403 0.4977 0.4155 0.4223 het 243.18 19 12 9750669 . A G 243.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.980;DP=19;Dels=0.00;FS=5.180;HRun=0;HaplotypeScore=1.8136;MQ=60.00;MQ0=0;MQRankSum=-0.939;QD=12.80;ReadPosRankSum=-1.511;VQSLOD=5.1542;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:273,0,220 12 9833524 9833524 C G exonic CLEC2D nonsynonymous SNV CLEC2D:NM_001004419:exon2:c.C67G:p.L23V,CLEC2D:NM_001197318:exon2:c.C67G:p.L23V,CLEC2D:NM_013269:exon2:c.C67G:p.L23V 0.29 0.1 0.28 0.36 0.34 0.44 0.3187 0.1400 0.2592 0.3744 0.3530 0.3191 0.3581 0.4252 0.26 0.15 0.32 0.24 0.25 rs3764022 . . . . . . . . . . . . . 0.056 0.381 T 0.017 0.240 B 0.004 0.133 B . . . 1 0.090 P 0 0.065 N 4.42 0.119 T -0.86 0.338 N 0.018 0.040 -0.896 0.484 T 0.000 0.000 T . . . -0.750 0.042 0.055 0.881 0.172 0.007 0.031 N c -1.142 -1.226 0.016 0.128 0.732 0.924 0 0.395 0.155 -0.325 0.080 0.551 0.283 0.000 0.063 0.005 0.090 3.572 0.074 . ENSG00000184293.3|ENSG00000213443.2|ENSG00000184293.3|ENSG00000184293.3|ENSG00000184293.3|ENSG00000184293.3|ENSG00000184293.3|ENSG00000213443.2|ENSG00000213443.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Lung|Nerve_Tibial|Nerve_Tibial|Testis 0.3252 0.1380 0.2743 0.3775 0.3829 0.3491 0.3193 0.3258 0.4300 0.2712 0.1497 0.2715 0.3591 0.3993 0.3632 0.3030 0.3014 het 613.24 55 12 9833524 . C G 613.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.152;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=-1.288;QD=11.15;ReadPosRankSum=0.350;VQSLOD=5.3256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,23:55:99:643,0,877 12 9833628 9833628 C T exonic CLEC2D synonymous SNV CLEC2D:NM_001004419:exon2:c.C171T:p.S57S,CLEC2D:NM_001197318:exon2:c.C171T:p.S57S,CLEC2D:NM_013269:exon2:c.C171T:p.S57S 0.46 0.56 0.41 0.37 0.47 0.46 0.4628 0.5552 0.3498 0.3822 0.5586 0.4657 0.4923 0.4733 0.5 0.55 0.47 0.53 0.39 rs3764021 COSM1365022;COSM1365021 2(large_intestine) . . . . . Type 1 diabetes 0.64 . 17554300 rs3764021 5E-8 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4630 0.5586 0.3702 0.5050 0.3903 0.5427 0.4656 0.4687 0.4773 0.4911 0.5525 0.3964 0.4834 0.4060 0.5409 0.4605 0.4578 het 652.69 49 12 9833628 . C T 652.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.290;DP=49;Dels=0.00;FS=4.936;HRun=0;HaplotypeScore=0.9996;MQ=60.00;MQ0=0;MQRankSum=-0.410;QD=13.32;ReadPosRankSum=0.610;VQSLOD=6.0350;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,25:49:99:683,0,557 12 9885707 9885707 - TAAGT exonic CLECL1 frameshift insertion CLECL1:NM_001253750:exon1:c.153_154insACTTA:p.S52Tfs*25,CLECL1:NM_001267701:exon1:c.153_154insACTTA:p.S52Tfs*24,CLECL1:NM_172004:exon1:c.153_154insACTTA:p.S52Tfs*25 0.55 0.76 0.46 0.38 0.5 0.56 0.5068 0.7101 0.3736 0.3875 0.5680 0.4978 0.5242 0.5456 0.57 0.7 0.5 . . rs71045297 COSM291460 1(pancreas);2(large_intestine);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5054 0.7192 0.3954 0.5902 0.3964 0.5556 0.4964 0.5064 0.5488 0.5495 0.7111 0.4068 0.5772 0.3959 0.5474 0.4841 0.4928 het 2141.46 70 12 9885707 . A ATAAGT 2141.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.257;DP=70;FS=0.000;HRun=0;HaplotypeScore=285.1199;MQ=50.64;MQ0=0;MQRankSum=-5.757;QD=30.59;ReadPosRankSum=0.521;set=variant2 GT:AD:DP:GQ:PL 0/1:43,26:70:99:2180,0,1969 12 9994446 9994448 TGT - exonic KLRF1 nonframeshift deletion KLRF1:NM_001291822:exon3:c.223_225del:p.C76del,KLRF1:NM_016523:exon4:c.373_375del:p.C126del 0.99 0.98 1. 1. 1. 1. 0.9973 0.9814 0.9989 1 1 0.9981 0.9989 1 . . . . . rs60498737 COSM5021226 1(bone);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9973 0.9821 0.9986 0.9721 1 1 0.9995 0.9969 1.0000 0.9947 0.9836 0.9964 0.9702 1 1 0.9995 0.9980 hom 2880.23 68 12 9994445 . GTGT G 2880.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=68;FS=4.840;HRun=0;HaplotypeScore=292.6808;MQ=52.71;MQ0=0;MQRankSum=0.704;QD=42.36;ReadPosRankSum=1.570;set=variant2 GT:AD:DP:GQ:PL 1/1:4,64:68:99:2922,177,0 12 10137557 10137557 A C exonic CLEC12A nonsynonymous SNV CLEC12A:NM_201623:exon5:c.A631C:p.K211Q,CLEC12A:NM_138337:exon6:c.A730C:p.K244Q,CLEC12A:NM_001207010:exon7:c.A760C:p.K254Q 0.74 0.67 0.67 0.9 0.6 0.85 0.7233 0.6838 0.7221 0.9031 0.6317 0.6733 0.7173 0.8138 0.64 0.64 0.63 0.69 0.11 rs479499 . . . . . . . . . . . . . 0.549 0.068 T 0.112 0.247 B 0.032 0.208 B . . . 1 0.090 P 1.08 0.273 L 2.24 0.179 T -0.73 0.206 N 0.041 0.022 -1.072 0.090 T 0.000 0.000 T . . . -2.613 0.003 0.001 0.475 0.038 0.010 0.038 N c -2.028 -2.143 1.000 0.415 0.487 0.133 0 -8.09 0.010 -0.304 0.082 -1.431 0.011 0.000 0.063 0.000 0.016 8.057 0.296 C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000256660.1|ENSG00000165682.10|ENSG00000256803.1|ENSG00000172322.9|ENSG00000172322.9|ENSG00000225231.1|ENSG00000172322.9|ENSG00000172322.9|ENSG00000256803.1|ENSG00000172322.9|ENSG00000172322.9|ENSG00000172322.9|ENSG00000172322.9|ENSG00000256660.1|ENSG00000165682.10|ENSG00000256803.1|ENSG00000172322.9|ENSG00000172322.9|ENSG00000172322.9|ENSG00000165682.10|ENSG00000172322.9|ENSG00000256660.1|ENSG00000256803.1|ENSG00000172322.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6815 0.6573 0.6704 0.6452 0.8958 0.5672 0.6386 0.6546 0.8123 0.6401 0.6427 0.6635 0.6788 0.8989 0.5539 0.6260 0.6816 hom 827.84 29 12 10137557 . A C 827.84 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.299;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.060;QD=28.55;ReadPosRankSum=-0.538;VQSLOD=8.0876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,28:29:36.64:861,37,0 12 10149851 10149851 C T exonic CLEC1B nonsynonymous SNV CLEC1B:NM_001099431:exon2:c.G92A:p.G31D,CLEC1B:NM_016509:exon3:c.G191A:p.G64D 0.98 0.94 1. 1. 1. 1. 0.9959 0.9534 0.9974 1 1 0.9999 0.9956 0.9998 0.99 0.95 1. 0.94 0.96 rs583903 . . . . . . . . . . . . . 0.318 0.138 T 0.0 0.026 B 0.0 0.040 B 0.367 0.043 N 1 0.090 P -1.1 0.010 N 4.94 0.014 T 0.16 0.052 N 0.019 0.004 -1.064 0.108 T 0.000 0.000 T . . . -1.096 0.028 0.010 0.718 0.094 0.004 0.021 N c -1.701 -1.726 0.000 0.038 0.497 0.185 0 -2.33 0.063 -0.822 0.045 -1.491 0.010 0.000 0.063 0.005 0.090 0.249 0.002 . . . 0.9967 0.9536 0.9978 1 1 1 0.9999 0.9980 0.9997 0.9850 0.9477 0.9976 1 1 1 0.9999 0.9959 hom 1580.86 52 12 10149851 . C T 1580.86 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.666;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3134;MQ=57.92;MQ0=0;MQRankSum=0.666;QD=30.40;ReadPosRankSum=1.266;VQSLOD=8.0539;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,51:52:99:1614,132,0 12 10150961 10150961 G A exonic CLEC1B nonsynonymous SNV CLEC1B:NM_016509:exon2:c.C83T:p.S28F 0.09 0.052 0.05 0.17 0.086 0.089 0.0838 0.0524 0.0413 0.1593 0.0540 0.0861 0.0944 0.0948 0.071 0.05 0.081 0.087 0.082 rs2273987 COSM147432 1(stomach);2(large_intestine) . . . . . . . . . . . 0.028 0.461 D 0.989 0.609 D 0.817 0.571 P 0.092 0.203 N 1 0.506 P 2.835 0.828 M 4.81 0.016 T -3.02 0.626 D 0.13 0.149 -0.891 0.488 T 0.000 0.000 T . . . 4.718 0.633 24.6 0.997 0.781 0.231 0.218 N c 0.186 0.042 0.243 0.186 0.598 0.340 0 4.37 0.517 4.178 0.578 0.733 0.306 0.131 0.231 0.095 0.187 12.395 0.545 . ENSG00000172322.9 Muscle_Skeletal 0.0804 0.0512 0.0395 0.0587 0.1568 0.0564 0.0877 0.0794 0.0949 0.0750 0.0474 0.0358 0.0530 0.1725 0.0573 0.0875 0.0713 het 2375.13 192 12 10150961 . G A 2375.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.831;DP=192;DS;Dels=0.00;FS=5.722;HRun=1;HaplotypeScore=3.7026;MQ=57.16;MQ0=2;MQRankSum=1.644;QD=12.37;ReadPosRankSum=0.245;VQSLOD=4.1039;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,95:192:99:2405,0,2667 12 10150974 10150974 A G exonic CLEC1B nonsynonymous SNV CLEC1B:NM_016509:exon2:c.T70C:p.S24P 0.4 0.47 0.43 0.34 0.49 0.27 0.4171 0.4446 0.4024 0.2837 0.4911 0.4538 0.4343 0.3018 0.43 0.42 0.44 0.43 0.49 rs2273986 COSM3998637 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.359 N 1 0.090 P -1.25 0.008 N 4.92 0.014 T 2.22 0.003 N 0.011 0.001 -1.014 0.255 T 0.000 0.000 T . . . -1.442 0.018 0.003 0.268 0.013 0.000 0.003 N c -1.702 -1.607 0.000 0.069 0.598 0.340 0 1.28 0.206 -0.597 0.058 -1.525 0.010 0.000 0.063 0.000 0.016 4.014 0.091 . ENSG00000256660.1|ENSG00000165682.10|ENSG00000256803.1|ENSG00000172322.9|ENSG00000172322.9|ENSG00000172322.9|ENSG00000172322.9|ENSG00000172322.9|ENSG00000172322.9|ENSG00000172322.9|ENSG00000256660.1|ENSG00000172322.9|ENSG00000256660.1|ENSG00000172322.9|ENSG00000172322.9|ENSG00000172322.9|ENSG00000256660.1|ENSG00000165682.10|ENSG00000256803.1|ENSG00000172322.9|ENSG00000172322.9|ENSG00000172322.9|ENSG00000165682.10|ENSG00000172322.9|ENSG00000256660.1|ENSG00000165682.10|ENSG00000256803.1|ENSG00000172322.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.4155 0.4410 0.4016 0.4156 0.2769 0.4999 0.4513 0.4377 0.3008 0.4475 0.4411 0.4024 0.3624 0.2914 0.5163 0.4591 0.4020 het 2093.59 167 12 10150974 . A G 2093.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DP=167;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8962;MQ=57.37;MQ0=1;MQRankSum=0.037;QD=12.54;ReadPosRankSum=0.722;VQSLOD=4.3984;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,83:167:99:2124,0,2232 12 10151642 10151642 T C exonic CLEC1B nonsynonymous SNV CLEC1B:NM_001099431:exon1:c.A58G:p.I20V,CLEC1B:NM_016509:exon1:c.A58G:p.I20V 0.99 0.95 1. 1. 1. 1. 0.9964 0.9595 0.9977 1 1 0.9999 0.9978 0.9996 0.99 0.96 1. 0.94 0.98 rs612593 . . . . . . . . . . . . . 0.89 0.141 T 0.0 0.026 B 0.002 0.063 B 0.685 0.102 N 1 0.090 P 0.695 0.181 N 4.89 0.015 T 0.08 0.060 N 0.007 0.000 -1.038 0.181 T 0.000 0.000 T . . . -1.862 0.010 0.002 0.381 0.025 0.022 0.064 N c -1.565 -1.618 0.000 0.067 0.497 0.185 0 -5.22 0.026 -0.353 0.077 -1.452 0.011 0.001 0.137 0.002 0.062 0.455 0.005 . . . 0.9970 0.9589 0.9978 1 1 1.0000 0.9999 0.9983 0.9996 0.9871 0.9548 0.9976 1 1 1 0.9999 0.9959 hom 6285.88 204 12 10151642 . T C 6285.88 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9792;MQ=59.03;MQ0=0;QD=30.81;VQSLOD=7.1575;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:6285,485,0 12 10165469 10165469 A G exonic CLEC12B synonymous SNV CLEC12B:NM_001129998:exon2:c.A177G:p.T59T,CLEC12B:NM_205852:exon2:c.A177G:p.T59T 0.94 0.92 0.96 0.98 0.92 0.93 0.9208 0.9048 0.9685 0.9730 0.9013 0.9083 0.9163 0.9290 0.91 0.89 0.92 0.89 0.89 rs476474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9234 0.9074 0.9644 0.9283 0.9737 0.9111 0.9059 0.9214 0.9301 0.9162 0.8970 0.9665 0.9371 0.9778 0.9124 0.9182 0.9204 het 1387.08 123 12 10165469 . A G 1387.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.114;DP=123;Dels=0.00;FS=5.130;HRun=0;HaplotypeScore=3.6347;MQ=58.94;MQ0=0;MQRankSum=-0.114;QD=11.28;ReadPosRankSum=-0.149;VQSLOD=5.0577;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,59:123:99:1417,0,1781 12 10167277 10167277 G C exonic CLEC12B nonsynonymous SNV CLEC12B:NM_001129998:exon3:c.G346C:p.V116L,CLEC12B:NM_001319241:exon3:c.G37C:p.V13L,CLEC12B:NM_001319242:exon3:c.G37C:p.V13L,CLEC12B:NM_205852:exon3:c.G346C:p.V116L 0.94 0.92 0.96 0.98 0.92 0.93 0.9205 0.9051 0.9681 0.9728 0.9002 0.9079 0.9163 0.9290 0.91 0.89 0.91 0.86 0.89 rs637790 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.017 0.278 N 1 0.090 P -2.62 0.000 N 1.5 0.312 T 1.86 0.005 N 0.033 0.013 -0.973 0.365 T 0.000 0.000 T . . . -0.332 0.066 0.561 0.675 0.081 0.000 0.003 N c -1.400 -1.217 0.002 0.094 0.497 0.185 0 3.14 0.350 1.126 0.307 -0.036 0.125 0.071 0.219 0.243 0.226 9.916 0.404 C-type lectin fold|Ly49-like\x2c N-terminal . . 0.9231 0.9078 0.9642 0.9279 0.9737 0.9100 0.9053 0.9209 0.9301 0.9157 0.8968 0.9665 0.9371 0.9776 0.9124 0.9173 0.9206 het 1108.18 91 12 10167277 . G C 1108.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.091;DP=91;Dels=0.00;FS=1.719;HRun=0;HaplotypeScore=0.9973;MQ=59.08;MQ0=0;MQRankSum=-0.330;QD=12.18;ReadPosRankSum=-0.465;VQSLOD=6.6834;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,43:91:99:1138,0,1321 12 10206925 10206925 A G exonic CLEC9A synonymous SNV CLEC9A:NM_207345:exon5:c.A147G:p.T49T 0.37 0.22 0.52 0.21 0.68 0.33 0.5561 0.2790 0.4971 0.2216 0.6355 0.6801 0.6126 0.4112 0.55 0.29 0.69 0.29 0.53 rs7315231 COSM3752843 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5594 0.2723 0.5022 0.6545 0.2286 0.6376 0.6790 0.6252 0.4157 0.5311 0.2884 0.5263 0.6954 0.2244 0.6388 0.6743 0.5767 het 1427.54 120 12 10206925 . A G 1427.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.149;DP=120;Dels=0.00;FS=1.546;HRun=1;HaplotypeScore=0.0000;MQ=58.25;MQ0=0;MQRankSum=0.384;QD=11.90;ReadPosRankSum=0.221;VQSLOD=5.6487;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,57:120:99:1458,0,1557 12 10251445 10251445 C G exonic CLEC1A nonsynonymous SNV CLEC1A:NM_001297748:exon1:c.G77C:p.G26A,CLEC1A:NM_001297749:exon1:c.G77C:p.G26A,CLEC1A:NM_016511:exon1:c.G77C:p.G26A 0.67 0.89 0.6 0.35 0.87 0.54 0.7679 0.8948 0.4367 0.3488 0.8687 0.8828 0.8138 0.6254 0.89 0.9 0.88 0.77 0.82 rs2306894 COSM147434 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.035 0.247 N 1 0.090 P -2.01 0.002 N 5.12 0.389 T 0.95 0.015 N 0.008 0.191 -0.981 0.348 T 0.000 0.000 T . . . -0.942 0.034 0.021 0.684 0.084 0.004 0.019 N c -1.214 -1.058 1.000 0.747 0.495 0.175 0 4.66 0.577 1.000 0.292 -0.249 0.090 0.331 0.254 0.172 0.211 7.889 0.287 . . . 0.7536 0.8964 0.4658 0.8757 0.3527 0.8696 0.8826 0.7929 0.6233 0.8471 0.8994 0.5323 0.8742 0.3491 0.8646 0.8841 0.8286 hom 944.72 32 12 10251445 . C G 944.72 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=29.52;VQSLOD=8.1924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:75.23:978,75,0 12 10251498 10251498 C T exonic CLEC1A synonymous SNV CLEC1A:NM_001297748:exon1:c.G24A:p.T8T,CLEC1A:NM_001297749:exon1:c.G24A:p.T8T,CLEC1A:NM_016511:exon1:c.G24A:p.T8T 0.0082 0.0015 0.0014 . 0.027 0.011 0.0279 0.0059 0.0098 0 0.0962 0.0335 0.0364 0.0191 0.023 0.0061 0.031 . 0.016 rs148373579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0262 0.0047 0.0105 0.0433 5.813e-05 0.0883 0.0266 0.0233 0.0176 0.0275 0.0055 0.0095 0.0464 0 0.0891 0.0293 0.0305 het 436.71 38 12 10251498 . C T 436.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.670;DP=38;Dels=0.00;FS=1.372;HRun=1;HaplotypeScore=0.9995;MQ=58.23;MQ0=0;MQRankSum=1.286;QD=11.49;ReadPosRankSum=-0.192;VQSLOD=4.0229;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,16:38:99:467,0,560 12 10462052 10462052 T G exonic KLRD1 nonsynonymous SNV KLRD1:NM_001351063:exon2:c.T73G:p.S25A,KLRD1:NM_002262:exon2:c.T73G:p.S25A,KLRD1:NM_001114396:exon3:c.T73G:p.S25A,KLRD1:NM_001351062:exon3:c.T73G:p.S25A,KLRD1:NM_001351060:exon4:c.T73G:p.S25A 0.94 0.77 0.98 1. 1. 1. 0.9789 0.7708 0.9890 1 1 0.9995 0.9890 0.9996 0.92 0.77 1. 0.95 0.99 rs10772256 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.998 0.079 N 1 0.090 P -1.7 0.004 N 1.03 0.405 T 2.3 0.005 N 0.024 0.009 -0.994 0.315 T 0.000 0.000 T . . . -2.490 0.003 0.001 0.182 0.006 0.000 0.003 N c -1.905 -1.858 0.000 0.055 0.554 0.283 0 -3.77 0.040 -0.110 0.107 -1.054 0.020 0.000 0.063 0.001 0.043 5.173 0.143 C-type lectin fold . . 0.9835 0.7660 0.9893 0.9998 1 1 0.9994 0.9914 0.9997 0.9363 0.7761 0.9916 1 1 1 0.9997 0.9929 hom 2434.81 80 12 10462052 . T G 2434.81 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=30.44;VQSLOD=9.4544;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2468,184,0 12 10525740 10525740 C T exonic KLRC4-KLRK1;KLRK1 synonymous SNV KLRK1:NM_007360:exon8:c.G624A:p.T208T,KLRC4-KLRK1:NM_001199805:exon13:c.G624A:p.T208T 0.71 0.47 0.77 0.87 0.7 0.86 0.7303 0.4997 0.8575 0.8686 0.7175 0.7058 0.6872 0.8204 0.63 0.5 0.7 0.65 0.73 rs1049172 COSM3752857 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7368 0.4971 0.8468 0.6180 0.8700 0.7170 0.7089 0.7157 0.8194 0.6612 0.4926 0.8266 0.6821 0.8742 0.7180 0.7090 0.7261 het 2395.44 196 12 10525740 . C T 2395.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.852;DP=196;Dels=0.00;FS=1.122;HRun=0;HaplotypeScore=3.2299;MQ=59.47;MQ0=0;MQRankSum=-0.915;QD=12.22;ReadPosRankSum=1.212;VQSLOD=6.0269;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,95:196:99:2425,0,2455 12 10532326 10532326 T C exonic KLRC4-KLRK1;KLRK1 nonsynonymous SNV KLRK1:NM_007360:exon4:c.A214G:p.T72A,KLRC4-KLRK1:NM_001199805:exon9:c.A214G:p.T72A 0.76 0.55 0.84 0.79 0.82 0.91 0.8036 0.5827 0.8928 0.7576 0.8075 0.8075 0.7998 0.8863 0.72 0.58 0.8 0.69 0.84 rs2255336 COSM430206 1(oesophagus);1(prostate) . . . . . . . . . . . 0.963 0.021 T 0.003 0.102 B 0.003 0.080 B 0.226 0.035 N 1 0.090 P . . . 4.91 0.015 T -0.6 0.178 N 0.014 0.003 -1.097 0.044 T 0.000 0.000 T . . . -0.015 0.092 2.443 0.913 0.199 0.007 0.029 N c -1.206 -1.255 0.001 0.072 0.706 0.609 0 -1.42 0.084 -1.600 0.022 -0.340 0.072 0.000 0.063 0.000 0.016 2.760 0.049 . ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000245648.1|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000245648.1|ENSG00000245648.1|ENSG00000205809.5|ENSG00000205809.5|ENSG00000245648.1|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205810.4 Adipose_Subcutaneous|Brain_Anterior_cingulate_cortex_BA24|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.8092 0.5776 0.8889 0.7899 0.7589 0.8102 0.8062 0.7952 0.8861 0.7473 0.5778 0.8654 0.8146 0.7602 0.8133 0.8168 0.8115 het 1125.71 102 12 10532326 . T C 1125.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.357;DP=102;Dels=0.00;FS=0.742;HRun=0;HaplotypeScore=0.9947;MQ=59.27;MQ0=0;MQRankSum=0.780;QD=11.04;ReadPosRankSum=-0.947;VQSLOD=6.6643;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,50:102:99:1156,0,1268 12 10560957 10560957 T C exonic KLRC4 nonsynonymous SNV KLRC4:NM_013431:exon3:c.A311G:p.N104S 0.56 0.43 0.67 0.55 0.66 0.54 0.6306 0.4732 0.6441 0.5375 0.6515 0.6806 0.6051 0.5602 0.61 0.48 0.68 0.6 0.55 rs2617170 COSM1358386 2(thyroid);1(large_intestine) . . . . . Behcet's disease 0.78 . 23291587 rs2617170 1E-9 0.091 0.318 T 0.149 0.263 B 0.063 0.256 B 0.159 0.177 N 1 0.090 P 1.26 0.320 L 2.92 0.099 T -2.82 0.595 D 0.008 0.003 -1.026 0.219 T 0.000 0.000 T . . . -0.150 0.080 1.385 0.928 0.217 0.067 0.126 N c -0.727 -0.813 0.000 0.060 0.554 0.283 0 2.89 0.326 1.057 0.299 0.895 0.411 0.001 0.137 0.001 0.043 7.575 0.269 C-type lectin fold ENSG00000245648.1|ENSG00000205809.5|ENSG00000245648.1|ENSG00000205809.5|ENSG00000245648.1|ENSG00000205809.5|ENSG00000245648.1|ENSG00000205809.5|ENSG00000245648.1|ENSG00000134545.9|ENSG00000205810.4 Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Skin_Not_Sun_Exposed_Suprapubic|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6281 0.4557 0.6367 0.5999 0.5266 0.6522 0.6805 0.6549 0.5508 0.6096 0.4650 0.6799 0.6667 0.5566 0.6523 0.6819 0.6455 het 495.61 55 12 10560957 . T C 495.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.033;DP=55;Dels=0.00;FS=1.105;HRun=0;HaplotypeScore=1.9931;MQ=56.81;MQ0=1;MQRankSum=-1.734;QD=9.01;ReadPosRankSum=-0.273;VQSLOD=2.6995;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,22:55:99:526,0,852 12 10562025 10562025 C T exonic KLRC4 synonymous SNV KLRC4:NM_013431:exon1:c.G150A:p.S50S 0.49 0.21 0.63 0.56 0.66 0.54 0.6107 0.2751 0.6339 0.5462 0.6510 0.6782 0.6013 0.5513 0.55 0.29 0.68 0.49 0.74 rs1841957 COSM3752861 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6177 0.2695 0.6351 0.6029 0.5432 0.6526 0.6825 0.6435 0.5533 0.5556 0.2753 0.6699 0.6689 0.5650 0.6518 0.6811 0.6375 het 2280.87 147 12 10562025 . C T 2280.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.985;DP=147;Dels=0.00;FS=4.007;HRun=0;HaplotypeScore=3.6009;MQ=59.15;MQ0=0;MQRankSum=0.840;QD=15.52;ReadPosRankSum=-1.321;VQSLOD=5.3772;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,84:147:99:2311,0,1596 12 10562089 10562089 A C exonic KLRC4 nonsynonymous SNV KLRC4:NM_013431:exon1:c.T86G:p.I29S 0.74 0.66 0.8 0.74 0.68 0.85 0.7188 0.6551 0.8601 0.7199 0.6858 0.6849 0.6707 0.8121 0.67 0.65 0.68 0.75 0.77 rs1841958 COSM3752862 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.598 0.110 N 1 0.090 P -2.56 0.000 N 3.62 0.044 T 5.47 0.000 N 0.01 0.317 -0.964 0.383 T 0.000 0.000 T . . . -2.637 0.003 0.001 0.459 0.036 0.001 0.008 N c -2.296 -2.171 0.032 0.140 0.554 0.283 0 -1.6 0.079 -0.592 0.058 -0.554 0.047 0.000 0.063 0.001 0.043 0.157 0.001 . ENSG00000245648.1|ENSG00000205809.5|ENSG00000245648.1|ENSG00000205809.5|ENSG00000245648.1|ENSG00000245648.1|ENSG00000205809.5|ENSG00000245648.1|ENSG00000205809.5|ENSG00000134545.9|ENSG00000205810.4 Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood 0.7228 0.6524 0.8486 0.6173 0.7193 0.6883 0.6878 0.7070 0.8108 0.6838 0.6508 0.8293 0.6755 0.7289 0.6905 0.6875 0.7010 het 2741.42 183 12 10562089 . A C 2741.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.143;DP=183;Dels=0.00;FS=6.409;HRun=0;HaplotypeScore=4.0987;MQ=58.82;MQ0=0;MQRankSum=1.228;QD=14.98;ReadPosRankSum=-1.228;VQSLOD=4.3025;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,103:183:99:2771,0,1964 12 10570965 10570965 C G exonic KLRC3 nonsynonymous SNV KLRC3:NM_002261:exon4:c.G464C:p.C155S,KLRC3:NM_007333:exon4:c.G464C:p.C155S 0.99 0.95 0.99 1. 1. 1. 0.9956 0.9509 0.9978 1 1 1.0000 0.9978 1 0.99 0.96 1. 1. 1. rs2682495 . . . . . . . . . . . . . 0.573 0.065 T 0.0 0.026 B 0.002 0.063 B 0.907 0.074 N 1 0.090 P -2.445 0.001 N 2.7 0.122 T 0.95 0.015 N 0.009 0.017 -1.013 0.259 T 0.000 0.000 T . . . -1.609 0.014 0.002 0.183 0.006 0.003 0.015 N c -1.896 -1.840 0.000 0.070 0.554 0.283 0 -0.134 0.128 -0.313 0.081 -0.723 0.036 0.000 0.063 0.002 0.062 3.157 0.061 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.9964 0.9482 0.9980 1 1 1 0.9999 0.9982 1.0000 0.9866 0.9532 0.9976 1 1 1 0.9999 0.9969 hom 6038.55 197 12 10570965 . C G 6038.55 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=52.06;MQ0=0;QD=30.65;VQSLOD=3.4610;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:6038,451,0 12 10572982 10572982 A G exonic KLRC3 synonymous SNV KLRC3:NM_002261:exon1:c.T168C:p.D56D,KLRC3:NM_007333:exon1:c.T168C:p.D56D 0.99 0.95 0.99 1. 1. 1. 0.9955 0.9509 0.9978 1 1 0.9999 0.9978 0.9999 0.98 0.96 1. 0.71 1. rs2741881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9482 0.9980 1 0.9999 0.9999 0.9999 0.9980 0.9999 0.9866 0.9531 0.9976 1 1 1 0.9999 0.9969 hom 4067.91 149 12 10572982 . A G 4067.91 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=52.37;MQ0=9;QD=27.30;VQSLOD=6.0641;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4067,307,0 12 10587111 10587111 A G exonic KLRC2 nonsynonymous SNV KLRC2:NM_002260:exon3:c.T305C:p.F102S . . . . . . 0.8180 0.6393 0.7661 0.8112 0.8520 0.8726 0.8179 0.7354 . . . 0.51 0.89 rs1141715 COSM4591779 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.952 0.083 N 1 0.090 P . . . 3.66 0.056 T 3.62 0.002 N 0.044 0.024 -0.985 0.340 T 0.000 0.000 T . . . -2.328 0.005 0.001 0.119 0.002 0.000 0.002 N c -2.029 -2.122 0.005 0.110 0.487 0.133 0 -3.67 0.042 -0.252 0.088 0.093 0.196 0.000 0.063 0.001 0.043 3.405 0.069 C-type lectin fold ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000205809.5|ENSG00000134545.9|ENSG00000134545.9|ENSG00000134545.9|ENSG00000134545.9|ENSG00000134545.9 Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Thyroid|Whole_Blood 0.8215 0.6405 0.7728 0.8249 0.8078 0.8535 0.8773 0.8457 0.7388 0.7979 0.6424 0.8146 0.8642 0.8228 0.8503 0.8670 0.8415 hom 3452.39 125 12 10587111 . A G 3452.39 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=48.07;MQ0=2;QD=27.62;VQSLOD=3.2646;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3452,262,0 12 10603670 10603670 T C exonic KLRC1 nonsynonymous SNV KLRC1:NM_002259:exon2:c.A86G:p.N29S,KLRC1:NM_007328:exon2:c.A86G:p.N29S,KLRC1:NM_001304448:exon3:c.A86G:p.N29S,KLRC1:NM_213657:exon3:c.A86G:p.N29S,KLRC1:NM_213658:exon3:c.A86G:p.N29S 0.99 0.95 0.99 1. 1. 1. 0.9957 0.9523 0.9981 1 1 1.0000 0.9978 1 0.99 0.96 1. 1. 1. rs2253849 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.356 0.137 N 1 0.090 P -1.895 0.002 N 3.66 0.043 T 2.62 0.002 N 0.008 0.022 -1.021 0.235 T 0.000 0.000 T . . . -2.337 0.004 0.001 0.135 0.003 0.000 0.002 N c -1.462 -1.368 0.000 0.012 0.487 0.133 0 3.06 0.342 -0.161 0.099 -1.061 0.020 0.000 0.063 0.000 0.016 7.126 0.245 . . . 0.9965 0.9497 0.9980 1 1 1 0.9999 0.9985 1.0000 0.9869 0.9542 0.9988 1 1 1 0.9999 0.9980 hom 2804.17 88 12 10603670 . T C 2804.17 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=31.87;VQSLOD=9.7553;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2837,226,0 12 10763236 10763236 G C exonic MAGOHB synonymous SNV MAGOHB:NM_018048:exon2:c.C138G:p.V46V 0.74 0.41 0.82 0.99 0.77 0.84 0.7897 0.4831 0.8980 0.9913 0.8199 0.7847 0.7567 0.8084 0.7 0.5 0.8 0.67 0.52 rs10845182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7867 0.4517 0.8799 0.7477 0.9893 0.8241 0.7793 0.7809 0.7942 0.7248 0.4906 0.8757 0.73 0.9926 0.8240 0.7959 0.8133 hom 874.15 28 12 10763236 . G C 874.15 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.88;MQ0=0;QD=31.22;VQSLOD=7.3911;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:72.22:907,72,0 12 10783729 10783729 A G exonic STYK1 synonymous SNV STYK1:NM_018423:exon5:c.T366C:p.S122S 0.25 0.11 0.24 0.21 0.38 0.38 0.3478 0.1532 0.2089 0.1939 0.3663 0.4145 0.3546 0.3707 0.34 0.16 0.43 0.22 0.34 rs2290717 COSM3752871 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3468 0.1466 0.2269 0.3936 0.1981 0.3643 0.4188 0.3674 0.3675 0.3263 0.1608 0.2792 0.3477 0.1875 0.3707 0.4255 0.3900 hom 2395.88 81 12 10783729 . A G 2395.88 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5106;MQ=59.25;MQ0=0;QD=29.58;VQSLOD=8.4817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:81:99:2429,208,0 12 10958658 10958658 T C exonic TAS2R8 nonsynonymous SNV TAS2R8:NM_023918:exon1:c.A922G:p.M308V 0.87 0.56 0.95 1. 1. 0.98 0.9617 0.6208 0.9799 1 1 0.9950 0.9707 0.9752 0.87 0.64 0.99 0.77 0.86 rs2537817 . . . . . . . . . . . . . 0.885 0.025 T 0.0 0.026 B 0.0 0.013 B 0.367 0.043 N 1 0.090 P 0 0.065 N 5.85 0.007 T -0.63 0.185 N 0.026 0.008 -0.922 0.453 T 0.000 0.000 T . . . -3.521 0.000 0.001 0.402 0.028 0.059 0.117 N c -2.127 -2.212 0.977 0.297 0.487 0.133 0 -9.75 0.004 -2.310 0.012 -1.829 0.006 0.000 0.063 0.000 0.016 3.455 0.070 . . . 0.9658 0.6055 0.9785 0.9798 1 0.9999 0.9958 0.9801 0.9751 0.8888 0.6164 0.9796 0.9834 1 0.9991 0.9970 0.9755 hom 1297.14 43 12 10958658 . T C 1297.14 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=30.17;VQSLOD=8.6842;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1330,102,0 12 10959031 10959031 C T exonic TAS2R8 synonymous SNV TAS2R8:NM_023918:exon1:c.G549A:p.L183L 0.5 0.16 0.57 0.64 0.68 0.59 0.5834 0.2254 0.5675 0.6638 0.6894 0.6171 0.6388 0.5958 0.48 0.23 0.6 0.47 0.5 rs1548803 COSM5765853 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5907 0.2186 0.5718 0.6744 0.6631 0.6859 0.6066 0.6165 0.5978 0.5045 0.2320 0.6007 0.6589 0.6641 0.6758 0.5913 0.6076 het 1506.65 99 12 10959031 . C T 1506.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.968;DP=99;Dels=0.00;FS=1.636;HRun=1;HaplotypeScore=1.7987;MQ=59.03;MQ0=0;MQRankSum=-0.251;QD=15.22;ReadPosRankSum=-0.442;VQSLOD=6.4888;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,57:99:99:1537,0,1207 12 10962115 10962115 A G exonic TAS2R9 nonsynonymous SNV TAS2R9:NM_023917:exon1:c.T560C:p.V187A 0.53 0.2 0.57 0.72 0.68 0.6 0.5964 0.2555 0.5736 0.7220 0.6916 0.6254 0.6578 0.6015 0.49 0.26 0.61 0.5 0.52 rs3741845 COSM4770142 1(pancreas);1(biliary_tract) . . . . . . . . . . . 0.909 0.024 T 0.0 0.026 B 0.0 0.013 B 0.950 0.083 N 1 0.090 P -0.475 0.027 N 1.16 0.381 T 1.23 0.010 N 0.047 0.028 -0.968 0.376 T 0.000 0.000 T . . . -2.132 0.006 0.001 0.450 0.035 0.002 0.012 N c -2.193 -2.157 0.000 0.052 0.487 0.133 0 -3.44 0.045 -2.438 0.011 -1.275 0.014 0.000 0.063 0.000 0.016 7.554 0.268 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000256682.1|ENSG00000255837.1|ENSG00000256981.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256682.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000111215.7|ENSG00000247157.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000134551.8|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256682.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000111215.7|ENSG00000247157.2|ENSG00000111215.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pancreas|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.6031 0.2485 0.5777 0.6772 0.7236 0.6879 0.6159 0.6321 0.6034 0.5210 0.2596 0.6094 0.6589 0.7266 0.6778 0.6004 0.6242 het 1400.94 128 12 10962115 . A G 1400.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.051;DP=128;Dels=0.00;FS=3.324;HRun=0;HaplotypeScore=1.5774;MQ=58.52;MQ0=0;MQRankSum=-0.012;QD=10.94;ReadPosRankSum=0.189;VQSLOD=5.9844;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,58:128:99:1431,0,1738 12 10978402 10978402 G A exonic TAS2R10 nonsynonymous SNV TAS2R10:NM_023921:exon1:c.C467T:p.T156M 0.94 0.81 0.98 1. 1. 0.98 0.9786 0.8336 0.9895 1 1 0.9955 0.9834 0.9734 0.94 0.83 1. 0.84 0.8 rs597468 . . . . . . . . . . . . . 0.397 0.106 T 0.0 0.026 B 0.001 0.040 B 0.000 0.003 N 1 0.090 P 0.55 0.145 N 1.18 0.377 T 1.83 0.005 N 0.02 0.006 -0.929 0.443 T 0.000 0.000 T . . . -0.477 0.057 0.250 0.552 0.052 0.003 0.015 N c -2.040 -2.066 0.722 0.229 0.487 0.133 0 -8.28 0.009 -1.984 0.016 -0.398 0.063 0.000 0.063 0.001 0.043 3.904 0.086 . . . 0.9821 0.8306 0.9901 0.9816 0.9999 0.9999 0.9964 0.9886 0.9733 0.9522 0.8374 0.9928 0.9834 1 0.9991 0.9977 0.9878 hom 1209.02 39 12 10978402 . G A 1209.02 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.64;MQ0=0;QD=31.00;VQSLOD=8.6880;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1242,99,0 12 10999708 10999708 T C exonic PRR4 nonsynonymous SNV PRR4:NM_001098538:exon3:c.A127G:p.R43G,PRR4:NM_007244:exon3:c.A359G:p.Q120R 0.74 0.37 0.85 0.92 0.84 0.86 0.8221 0.4313 0.8915 0.9358 0.8942 0.8357 0.8527 0.8615 0.71 0.47 0.83 0.72 0.78 rs1047699 COSM3752889 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.731 0.038 T 0.689 0.397 P 0.065 0.259 B 0.196 0.033 N 1 0.090 P . . . 2.37 0.160 T -1.98 0.457 N 0.054 0.036 -1.043 0.163 T 0.000 0.000 T . . . -1.776 0.011 0.002 0.210 0.008 0.004 0.018 N c -1.233 -1.478 0.117 0.168 0.693 0.558 0 -1.49 0.082 -2.614 0.010 -1.943 0.005 0.000 0.063 0.000 0.016 . . . ENSG00000212125.2|ENSG00000212125.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000212125.2|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212125.2|ENSG00000212125.2|ENSG00000256537.1|ENSG00000256274.1|ENSG00000256436.1|ENSG00000212125.2|ENSG00000111215.7 Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid 0.8299 0.4254 0.8840 0.8438 0.9332 0.8891 0.8324 0.8431 0.8571 0.7344 0.4283 0.8768 0.8543 0.9271 0.8861 0.8373 0.8620 hom 6836.71 221 12 10999708 . T C 6836.71 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.716;DP=221;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=0.651;QD=30.94;ReadPosRankSum=0.760;VQSLOD=9.6361;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,220:221:99:6836,545,0 12 10999780 10999780 C T exonic PRR4 nonsynonymous SNV PRR4:NM_007244:exon3:c.G287A:p.R96Q 0.52 0.14 0.62 0.71 0.63 0.67 0.5897 0.2024 0.6560 0.7197 0.6329 0.5913 0.6333 0.6796 0.46 0.21 0.58 0.47 0.52 rs1063193 COSM3752890 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.835 0.028 T 0.006 0.126 B 0.001 0.040 B 0.789 0.094 N 1 0.090 P -0.75 0.017 N 3.61 0.045 T 1.38 0.009 N 0.017 0.003 -0.985 0.337 T 0.000 0.000 T . . . -0.225 0.074 0.970 0.845 0.148 0.001 0.005 N c -2.098 -2.180 1.000 0.411 0.638 0.428 0 -3.51 0.044 -3.339 0.006 -2.475 0.003 0.000 0.063 0.000 0.016 5.630 0.167 . ENSG00000256682.1|ENSG00000255837.1|ENSG00000256981.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256682.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256682.1|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000247157.2|ENSG00000256682.1|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256682.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000111215.7|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000255837.1|ENSG00000134551.8|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256682.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000111215.7|ENSG00000111215.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood 0.5969 0.1996 0.6479 0.6671 0.7158 0.6234 0.5823 0.6236 0.6785 0.4814 0.2135 0.6790 0.6722 0.7007 0.6165 0.5593 0.5953 het 4252.89 250 12 10999780 . C T 4252.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.004;DP=250;Dels=0.00;FS=5.117;HRun=1;HaplotypeScore=8.9582;MQ=59.35;MQ0=0;MQRankSum=1.400;QD=17.01;ReadPosRankSum=-0.210;VQSLOD=3.9221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,129:250:99:3590,0,3149 12 11061122 11061122 T C exonic TAS2R13 nonsynonymous SNV TAS2R13:NM_023920:exon1:c.A776G:p.N259S 0.52 0.15 0.59 0.72 0.62 0.65 0.5853 0.2104 0.6327 0.7299 0.6498 0.5913 0.6364 0.6588 0.46 0.22 0.58 0.49 0.52 rs1015443 . . . . . . . . . . . . . 0.372 0.115 T 0.04 0.198 B 0.129 0.312 B 0.788 0.094 N 1 0.090 P 0.215 0.096 N 5.73 0.008 T -1.56 0.377 N 0.055 0.037 -1.154 0.009 T 0.000 0.000 T . . . -1.480 0.017 0.003 0.732 0.099 0.009 0.035 N c -1.161 -1.226 0.243 0.186 0.554 0.246 0 0.219 0.145 -1.567 0.022 -0.023 0.128 0.000 0.063 0.001 0.043 4.853 0.128 . ENSG00000256682.1|ENSG00000255837.1|ENSG00000256981.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000121335.10|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256682.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212127.5|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256651.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256682.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000256682.1|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000247157.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256682.1|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256682.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000270863.1|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000247157.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000134551.8|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256682.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212126.3|ENSG00000256537.1|ENSG00000212127.5|ENSG00000111215.7|ENSG00000111215.7|ENSG00000247157.2|ENSG00000111215.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.5941 0.2085 0.6266 0.6353 0.7283 0.6482 0.5831 0.6129 0.6588 0.4850 0.2216 0.6459 0.6267 0.7072 0.6388 0.5599 0.5883 het 676.16 45 12 11061122 . T C 676.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.352;DP=45;Dels=0.00;FS=7.817;HRun=0;HaplotypeScore=0.9933;MQ=58.55;MQ0=0;MQRankSum=-0.443;QD=15.03;ReadPosRankSum=0.715;VQSLOD=4.7514;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:706,0,646 12 11091432 11091432 C T exonic TAS2R14 synonymous SNV TAS2R14:NM_023922:exon1:c.G375A:p.R125R 0.78 0.5 0.84 0.92 0.86 0.86 0.8430 0.5345 0.898 0.9405 0.9193 0.8526 0.8863 0.8735 0.74 0.55 0.84 0.81 0.76 rs3741843 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8504 0.5315 0.8910 0.8432 0.9379 0.9234 0.8483 0.8490 0.8732 0.7743 0.5339 0.8864 0.8444 0.9295 0.9210 0.8497 0.8612 het 419.59 39 12 11091432 . C T 419.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DP=39;Dels=0.00;FS=3.010;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;MQRankSum=-0.382;QD=10.76;ReadPosRankSum=0.184;VQSLOD=6.5241;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,17:39:99:450,0,606 12 11138683 11138683 C T exonic TAS2R50 synonymous SNV TAS2R50:NM_176890:exon1:c.G777A:p.P259P 0.55 0.18 0.6 0.76 0.66 0.68 0.6096 0.2383 0.6467 0.7524 0.6548 0.6182 0.6476 0.6874 0.49 0.24 0.61 0.49 0.55 rs10772397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6175 0.2386 0.6419 0.6668 0.7522 0.6546 0.6099 0.6328 0.6862 0.5111 0.2513 0.6480 0.6623 0.7320 0.6442 0.5903 0.6061 het 1333.19 109 12 11138683 . C T 1333.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.619;DP=109;Dels=0.00;FS=6.064;HRun=0;HaplotypeScore=0.7887;MQ=58.98;MQ0=0;MQRankSum=1.554;QD=12.23;ReadPosRankSum=-0.848;VQSLOD=5.2266;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,50:109:99:1363,0,1571 12 11138852 11138852 C T exonic TAS2R50 nonsynonymous SNV TAS2R50:NM_176890:exon1:c.G608A:p.C203Y 0.41 0.056 0.38 0.76 0.36 0.61 0.3968 0.0931 0.4485 0.7524 0.3315 0.3452 0.4172 0.5993 0.25 0.095 0.33 0.37 0.31 rs1376251 COSM3752904 1(large_intestine) . . . . . . . . . . . 0.413 0.100 T 0.037 0.195 B 0.081 0.275 B 0.216 0.162 U 1.000 0.090 P 3.04 0.868 M 1.25 0.365 T -2.77 0.587 D 0.201 0.246 -1.009 0.273 T 0.000 0.000 T . . . -0.602 0.050 0.124 0.896 0.183 0.100 0.154 N c -0.665 -0.775 0.000 0.052 0.487 0.133 0 1.22 0.202 1.590 0.360 0.660 0.293 0.043 0.209 0.848 0.354 7.505 0.265 . ENSG00000256682.1|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212124.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000111215.7|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212124.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212125.2|ENSG00000212124.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000121335.10|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256981.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255374.1|ENSG00000256436.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000111215.7|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000255374.1|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255374.1|ENSG00000255837.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212128.2|ENSG00000256274.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000212125.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255374.1|ENSG00000255837.1|ENSG00000255374.1|ENSG00000111215.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Uterus|Vagina|Whole_Blood 0.4019 0.0919 0.4428 0.4864 0.7516 0.3261 0.3317 0.3993 0.5978 0.2806 0.1017 0.4296 0.48 0.7311 0.3215 0.3100 0.3462 het 1832.54 161 12 11138852 . C T 1832.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.164;DP=161;Dels=0.00;FS=2.003;HRun=0;HaplotypeScore=2.5637;MQ=58.97;MQ0=0;MQRankSum=-1.403;QD=11.38;ReadPosRankSum=0.390;VQSLOD=5.5334;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,70:161:99:1863,0,2533 12 11138935 11138935 T C exonic TAS2R50 synonymous SNV TAS2R50:NM_176890:exon1:c.A525G:p.S175S 0.098 0.13 0.091 0.002 0.13 0.13 0.1182 0.1462 0.0823 0.0008 0.0785 0.1393 0.0859 0.1193 0.15 0.14 0.15 0.13 0.15 rs66679979 COSM3752905 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1164 0.1401 0.0884 0.1557 0.0006 0.0751 0.1428 0.1217 0.1207 0.1253 0.1450 0.0885 0.1556 0 0.0773 0.1411 0.1086 het 2152.68 165 12 11138935 . T C 2152.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.911;DP=165;Dels=0.00;FS=1.294;HRun=0;HaplotypeScore=3.6935;MQ=58.93;MQ0=0;MQRankSum=1.276;QD=13.05;ReadPosRankSum=0.184;VQSLOD=5.9330;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,80:165:99:2183,0,2403 12 11149711 11149711 C A exonic TAS2R20 nonsynonymous SNV TAS2R20:NM_176889:exon1:c.G764T:p.R255L 0.42 0.065 0.38 0.76 0.38 0.63 0.4111 0.0998 0.4569 0.7512 0.3338 0.3612 0.4314 0.6290 0.27 0.1 0.35 0.38 0.34 rs10845279 COSM3752906 5(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.479 0.050 N 1 0.090 P -2.155 0.001 N 5.74 0.008 T 2.03 0.004 N 0.063 0.048 -0.918 0.459 T 0.000 0.000 T . . . -1.043 0.030 0.013 0.411 0.029 0.001 0.005 N c -2.081 -2.047 0.005 0.107 0.554 0.246 0 -5.32 0.025 -0.885 0.042 -4.366 0.000 0.000 0.063 0.000 0.016 4.833 0.127 . ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212124.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212124.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212125.2|ENSG00000212124.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000121335.10|ENSG00000255374.1|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256981.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000139112.6|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255374.1|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212127.5|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255374.1|ENSG00000255837.1|ENSG00000111215.7|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212128.2|ENSG00000256274.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255837.1|ENSG00000255374.1|ENSG00000111215.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Vagina|Whole_Blood 0.4160 0.0981 0.4531 0.5191 0.7512 0.3290 0.3467 0.4138 0.6277 0.2885 0.1094 0.4402 0.5067 0.7269 0.3245 0.3213 0.3525 het 1459.83 108 12 11149711 . C A 1459.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.249;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7915;MQ=59.59;MQ0=0;MQRankSum=0.166;QD=13.52;ReadPosRankSum=-0.799;VQSLOD=6.1409;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,53:108:99:1490,0,1497 12 11149720 11149720 A G exonic TAS2R20 nonsynonymous SNV TAS2R20:NM_176889:exon1:c.T755C:p.F252S 0.42 0.065 0.38 0.76 0.38 0.63 0.4112 0.0998 0.4569 0.7514 0.3338 0.3612 0.4305 0.6293 0.27 0.1 0.35 0.38 0.34 rs10845280 COSM3752907 1(large_intestine) . . . . . . . . . . . 0.402 0.104 T 0.0 0.026 B 0.002 0.063 B 0.805 0.068 N 1 0.090 P 0.455 0.128 N 1.31 0.354 T -0.09 0.084 N 0.03 0.011 -0.974 0.363 T 0.000 0.000 T . . . -1.167 0.026 0.007 0.325 0.019 0.001 0.005 N c -2.154 -2.180 0.001 0.077 0.554 0.246 0 -2.3 0.064 -3.225 0.006 -1.889 0.006 0.000 0.063 0.000 0.016 5.660 0.168 . ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212124.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212124.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212125.2|ENSG00000212124.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000121335.10|ENSG00000255374.1|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256981.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000139112.6|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255374.1|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212127.5|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255374.1|ENSG00000255837.1|ENSG00000111215.7|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212128.2|ENSG00000256274.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255837.1|ENSG00000255374.1|ENSG00000111215.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Vagina|Whole_Blood 0.4161 0.0979 0.4532 0.5190 0.7512 0.3291 0.3468 0.4139 0.6277 0.2885 0.1095 0.4402 0.5067 0.7260 0.3239 0.3212 0.3525 het 1525.50 112 12 11149720 . A G 1525.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.587;DP=112;Dels=0.00;FS=3.754;HRun=0;HaplotypeScore=1.9305;MQ=59.56;MQ0=0;MQRankSum=-0.959;QD=13.62;ReadPosRankSum=-0.399;VQSLOD=5.4166;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,53:112:99:1555,0,1679 12 11149769 11149769 T C exonic TAS2R20 nonsynonymous SNV TAS2R20:NM_176889:exon1:c.A706G:p.I236V 0.42 0.065 0.38 0.76 0.38 0.63 0.4115 0.0999 0.4581 0.7521 0.3336 0.3615 0.4306 0.6291 0.27 0.1 0.35 0.38 0.34 rs10845281 COSM3752908 1(large_intestine) . . . . . . . . . . . 0.057 0.379 T 0.0 0.026 B 0.004 0.093 B 0.425 0.047 U 1 0.090 P 0.59 0.155 N 5.6 0.009 T -0.89 0.240 N 0.054 0.036 -1.073 0.086 T 0.000 0.000 T . . . -0.795 0.040 0.044 0.345 0.021 0.007 0.030 N c -1.612 -1.686 0.000 0.069 0.554 0.246 0 -1.57 0.080 -0.596 0.058 -1.780 0.007 0.000 0.063 0.000 0.016 0.422 0.004 . ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212124.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212124.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212125.2|ENSG00000212124.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000121335.10|ENSG00000255374.1|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256981.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000139112.6|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255374.1|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212127.5|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255374.1|ENSG00000255837.1|ENSG00000111215.7|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212128.2|ENSG00000256274.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255837.1|ENSG00000255374.1|ENSG00000111215.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Vagina|Whole_Blood 0.4162 0.0981 0.4533 0.5192 0.7514 0.3292 0.3470 0.4128 0.6278 0.2899 0.1094 0.4415 0.5099 0.7292 0.3245 0.3233 0.3531 het 2113.05 187 12 11149769 . T C 2113.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.559;DP=187;Dels=0.00;FS=2.932;HRun=0;HaplotypeScore=2.7994;MQ=59.16;MQ0=0;MQRankSum=-0.438;QD=11.30;ReadPosRankSum=-1.400;VQSLOD=5.1915;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,80:187:99:2143,0,2763 12 11150033 11150033 G T exonic TAS2R20 nonsynonymous SNV TAS2R20:NM_176889:exon1:c.C442A:p.H148N 0.43 0.085 0.38 0.76 0.38 0.63 0.4130 0.1184 0.4583 0.7511 0.3337 0.3615 0.4316 0.6290 0.27 0.12 0.35 0.38 0.34 rs12226919 COSM5000749 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.156 0.030 N 1 0.090 P -2.61 0.000 N 1.29 0.358 T 2.95 0.001 N 0.012 0.001 -0.892 0.488 T 0.000 0.000 T . . . -1.631 0.014 0.002 0.336 0.020 0.000 0.002 N c -1.718 -1.632 0.000 0.064 0.554 0.246 0 0.515 0.161 -0.172 0.098 -0.075 0.119 0.000 0.063 0.001 0.043 0.450 0.005 . ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212124.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212124.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212125.2|ENSG00000212124.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000121335.10|ENSG00000255374.1|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256981.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255374.1|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255374.1|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255374.1|ENSG00000255837.1|ENSG00000111215.7|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255837.1|ENSG00000255374.1|ENSG00000247157.2|ENSG00000111215.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood 0.4174 0.1158 0.4537 0.5192 0.7510 0.3287 0.3469 0.4140 0.6278 0.2945 0.1251 0.4414 0.5099 0.7291 0.3245 0.3231 0.3551 het 1881.51 157 12 11150033 . G T 1881.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.784;DP=157;DS;Dels=0.00;FS=0.625;HRun=3;HaplotypeScore=6.9823;MQ=59.17;MQ0=0;MQRankSum=1.094;QD=11.98;ReadPosRankSum=0.196;VQSLOD=4.9530;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,72:157:99:1912,0,2413 12 11150046 11150046 G T exonic TAS2R20 nonsynonymous SNV TAS2R20:NM_176889:exon1:c.C429A:p.H143Q 0.42 0.065 0.38 0.76 0.38 0.63 0.4113 0.1 0.4578 0.7508 0.3336 0.3613 0.4316 0.6290 0.27 0.1 0.35 0.38 0.34 rs12226920 COSM3752909 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.26 0.165 T 0.011 0.147 B 0.042 0.227 B 0.604 0.057 N 1 0.090 P 0.935 0.237 L 1.25 0.365 T -3.23 0.650 D 0.023 0.006 -0.967 0.379 T 0.000 0.000 T . . . -1.289 0.022 0.005 0.524 0.046 0.005 0.024 N c -1.490 -1.597 0.008 0.117 0.554 0.246 0 -4.77 0.030 -1.302 0.028 -0.040 0.125 0.000 0.063 0.000 0.016 0.879 0.011 . ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212124.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212124.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000226761.3|ENSG00000212125.2|ENSG00000212124.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255374.1|ENSG00000256274.1|ENSG00000255837.1|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000212127.5|ENSG00000121335.10|ENSG00000255374.1|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256981.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000139112.6|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256274.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000212124.2|ENSG00000256436.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255374.1|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000212127.5|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256274.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255374.1|ENSG00000255837.1|ENSG00000111215.7|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256274.1|ENSG00000247157.2|ENSG00000256274.1|ENSG00000255374.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212124.2|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000212128.2|ENSG00000256274.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255837.1|ENSG00000255374.1|ENSG00000111215.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Vagina|Whole_Blood 0.4161 0.0979 0.4533 0.5191 0.7510 0.3288 0.3467 0.4129 0.6278 0.2894 0.1088 0.4412 0.5099 0.7284 0.3245 0.3225 0.3544 het 1684.67 139 12 11150046 . G T 1684.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.838;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0685;MQ=58.73;MQ0=0;MQRankSum=0.041;QD=12.12;ReadPosRankSum=-0.373;VQSLOD=4.6420;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,64:139:99:1715,0,2101 12 11150214 11150214 G A exonic TAS2R20 synonymous SNV TAS2R20:NM_176889:exon1:c.C261T:p.A87A 0.42 0.065 0.38 0.76 0.38 0.63 0.4132 0.1009 0.4578 0.7510 0.3341 0.3617 0.4313 0.6290 0.26 0.098 0.35 0.38 0.25 rs11054142 COSM3752910 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4162 0.0980 0.4534 0.5190 0.7510 0.3290 0.3466 0.4134 0.6279 0.2897 0.1092 0.4402 0.5099 0.7281 0.3241 0.3232 0.3545 het 1321.42 100 12 11150214 . G A 1321.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.162;DP=100;Dels=0.00;FS=2.783;HRun=1;HaplotypeScore=1.4105;MQ=58.89;MQ0=0;MQRankSum=0.913;QD=13.21;ReadPosRankSum=-0.107;VQSLOD=5.7835;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,50:100:99:1351,0,1343 12 11150319 11150319 T C exonic TAS2R20 synonymous SNV TAS2R20:NM_176889:exon1:c.A156G:p.A52A 0.42 0.065 0.38 0.76 0.38 0.63 0.4139 0.1021 0.4588 0.7510 0.3344 0.3625 0.4344 0.6294 0.26 0.098 0.35 0.38 0.29 rs11054143 COSM3752911 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4163 0.0981 0.4536 0.5191 0.7510 0.3291 0.3469 0.4137 0.6280 0.2895 0.1094 0.4412 0.5099 0.7289 0.3241 0.3228 0.3541 het 1114.12 88 12 11150319 . T C 1114.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.759;DP=88;Dels=0.00;FS=1.771;HRun=1;HaplotypeScore=2.9736;MQ=59.13;MQ0=1;MQRankSum=1.231;QD=12.66;ReadPosRankSum=-0.405;VQSLOD=5.7446;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,47:88:99:1144,0,1004 12 11174753 11174753 G A exonic TAS2R19 synonymous SNV TAS2R19:NM_176888:exon1:c.C418T:p.L140L 0.7 0.41 0.8 0.86 0.81 0.75 0.7805 0.4489 0.8619 0.8867 0.8458 0.8044 0.8062 0.7521 0.68 0.46 0.8 0.69 0.75 rs1868769 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7892 0.4463 0.8519 0.7482 0.8814 0.8495 0.8050 0.7906 0.7510 0.7154 0.4480 0.8498 0.7351 0.8859 0.8593 0.8045 0.8090 het 1719.38 134 12 11174753 . G A 1719.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.353;DP=134;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.4715;MQ=59.47;MQ0=0;MQRankSum=0.429;QD=12.83;ReadPosRankSum=0.255;VQSLOD=6.7399;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,61:134:99:1749,0,2035 12 11338613 11338613 C G exonic TAS2R42 nonsynonymous SNV TAS2R42:NM_181429:exon1:c.G931C:p.A311P 0.76 0.41 0.85 0.95 0.87 0.87 0.8372 0.4551 0.8924 0.9652 0.9191 0.8513 0.8772 0.8799 0.66 0.39 0.8 . 0.8 rs1650017 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8483 0.4526 0.8888 0.8440 0.9647 0.9247 0.8500 0.8507 0.8782 0.7525 0.4526 0.8726 0.8344 0.9577 0.9209 0.8496 0.8711 het 600.56 51 12 11338613 . C G 600.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.255;DP=51;Dels=0.00;FS=1.332;HRun=1;HaplotypeScore=1.7206;MQ=58.63;MQ0=0;MQRankSum=1.330;QD=11.78;ReadPosRankSum=-0.670;VQSLOD=5.5149;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,24:51:99:631,0,755 12 11338614 11338614 A G exonic TAS2R42 synonymous SNV TAS2R42:NM_181429:exon1:c.T930C:p.N310N 0.76 0.41 0.85 0.95 0.87 0.87 0.8371 0.4552 0.8924 0.9652 0.9191 0.8513 0.8772 0.8791 0.66 0.39 0.8 . 0.79 rs1669411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8483 0.4530 0.8889 0.8442 0.9647 0.9247 0.8499 0.8510 0.8780 0.7527 0.4535 0.8726 0.8344 0.9577 0.9207 0.8495 0.8683 het 608.66 52 12 11338614 . A G 608.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.179;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7206;MQ=58.66;MQ0=0;MQRankSum=1.355;QD=11.71;ReadPosRankSum=-0.696;VQSLOD=5.4269;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,25:52:99:639,0,717 12 11338781 11338781 C A exonic TAS2R42 nonsynonymous SNV TAS2R42:NM_181429:exon1:c.G763T:p.G255W 0.76 0.41 0.85 0.95 0.87 0.87 0.8380 0.4572 0.8937 0.9661 0.9199 0.8529 0.8767 0.8763 0.71 0.47 0.84 0.74 0.76 rs1669413 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8470 0.4539 0.8867 0.8400 0.9640 0.9238 0.8484 0.8476 0.8748 0.7544 0.4558 0.8735 0.8377 0.9571 0.9215 0.8509 0.8706 het 1129.80 74 12 11338781 . C A 1129.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.692;DP=74;Dels=0.00;FS=6.131;HRun=1;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;MQRankSum=-1.093;QD=15.27;ReadPosRankSum=2.219;VQSLOD=4.5445;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,39:74:99:1160,0,1046 12 11338957 11338957 A G exonic TAS2R42 nonsynonymous SNV TAS2R42:NM_181429:exon1:c.T587C:p.F196S 0.54 0.16 0.62 0.76 0.65 0.66 0.6022 0.2160 0.6389 0.7533 0.6714 0.6104 0.6405 0.6638 0.47 0.22 0.6 0.49 0.45 rs5020531 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.077 0.211 N 1 0.090 P -1.88 0.002 N 1.23 0.369 T 5.46 0.000 N 0.063 0.048 -0.957 0.397 T 0.000 0.000 T . . . -1.478 0.017 0.003 0.114 0.002 0.000 0.003 N c -2.065 -1.949 0.001 0.077 0.554 0.246 0 1.59 0.225 0.292 0.186 -1.075 0.019 0.001 0.137 0.000 0.016 7.404 0.260 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000256682.1|ENSG00000255837.1|ENSG00000256981.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000121335.10|ENSG00000247157.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256682.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000270863.1|ENSG00000256651.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000270863.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000121335.10|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256682.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000256682.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000212125.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000247157.2|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256682.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000256981.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000270863.1|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000247157.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000134551.8|ENSG00000256682.1|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256682.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000212125.2|ENSG00000111215.7|ENSG00000212126.3|ENSG00000256537.1|ENSG00000212127.5|ENSG00000111215.7|ENSG00000212127.5|ENSG00000111215.7|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.6096 0.2144 0.6345 0.6467 0.7521 0.6715 0.6033 0.6253 0.6616 0.5030 0.2258 0.6376 0.6424 0.7306 0.6596 0.5859 0.6122 het 919.73 73 12 11338957 . A G 919.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.146;DP=73;Dels=0.00;FS=1.972;HRun=2;HaplotypeScore=2.9918;MQ=59.05;MQ0=0;MQRankSum=-0.248;QD=12.60;ReadPosRankSum=1.983;VQSLOD=5.5573;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,35:73:99:950,0,983 12 11338983 11338983 T C exonic TAS2R42 synonymous SNV TAS2R42:NM_181429:exon1:c.A561G:p.L187L 0.76 0.41 0.85 0.95 0.87 0.87 0.8395 0.4555 0.8936 0.9660 0.9200 0.8529 0.8764 0.8763 0.71 0.47 0.84 0.75 0.77 rs1650019 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8470 0.4532 0.8866 0.8401 0.9641 0.9239 0.8485 0.8479 0.8748 0.7544 0.4564 0.8744 0.8377 0.9576 0.9212 0.8510 0.8704 het 891.48 70 12 11338983 . T C 891.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.588;DP=70;Dels=0.00;FS=2.039;HRun=0;HaplotypeScore=0.8941;MQ=59.34;MQ0=0;MQRankSum=0.777;QD=12.74;ReadPosRankSum=-0.635;VQSLOD=6.8137;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:921,0,936 12 11339020 11339020 T A exonic TAS2R42 nonsynonymous SNV TAS2R42:NM_181429:exon1:c.A524T:p.Y175F 0.54 0.16 0.62 0.76 0.65 0.66 0.6024 0.2170 0.6386 0.7531 0.6714 0.6103 0.6416 0.6643 0.47 0.21 0.59 0.49 0.41 rs35969491 . . . . . . . . . . . . . 0.099 0.306 T 0.997 0.689 D 0.978 0.725 D 0.568 0.113 U 1 0.090 P 1.7 0.440 L 1.2 0.374 T -2.51 0.545 D 0.07 0.058 -0.976 0.359 T 0.000 0.000 T . . . 0.067 0.100 3.255 0.927 0.216 0.078 0.137 N c -0.501 -0.712 0.001 0.079 0.487 0.133 0 1.48 0.218 0.083 0.146 0.891 0.395 0.000 0.063 0.004 0.083 4.451 0.110 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000256682.1|ENSG00000255837.1|ENSG00000256981.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000121335.10|ENSG00000247157.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256682.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000270863.1|ENSG00000256651.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000270863.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000121335.10|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256274.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000256274.1|ENSG00000255837.1|ENSG00000247157.2|ENSG00000255374.1|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000247157.2|ENSG00000256682.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000256682.1|ENSG00000256436.1|ENSG00000255837.1|ENSG00000256712.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000212125.2|ENSG00000111215.7|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000111215.7|ENSG00000247157.2|ENSG00000212127.5|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256537.1|ENSG00000212127.5|ENSG00000255837.1|ENSG00000256682.1|ENSG00000212124.2|ENSG00000255837.1|ENSG00000256981.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000270863.1|ENSG00000256537.1|ENSG00000212127.5|ENSG00000212128.2|ENSG00000247157.2|ENSG00000111215.7|ENSG00000247157.2|ENSG00000111215.7|ENSG00000255837.1|ENSG00000247157.2|ENSG00000256682.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000255837.1|ENSG00000134551.8|ENSG00000256682.1|ENSG00000255837.1|ENSG00000111215.7|ENSG00000212127.5|ENSG00000256682.1|ENSG00000255837.1|ENSG00000121318.2|ENSG00000247157.2|ENSG00000212125.2|ENSG00000111215.7|ENSG00000212126.3|ENSG00000256537.1|ENSG00000212127.5|ENSG00000111215.7|ENSG00000212127.5|ENSG00000111215.7|ENSG00000247157.2|ENSG00000111215.7|ENSG00000212127.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.6094 0.2151 0.6344 0.6473 0.7522 0.6713 0.6032 0.6249 0.6614 0.5032 0.2250 0.6388 0.6424 0.7335 0.6603 0.5862 0.6130 het 535.25 51 12 11339020 . T A 535.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.811;DP=51;Dels=0.00;FS=1.086;HRun=1;HaplotypeScore=0.8667;MQ=59.55;MQ0=0;MQRankSum=1.145;QD=10.50;ReadPosRankSum=0.331;VQSLOD=6.3594;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,23:51:99:565,0,692 12 12240199 12240199 C T exonic BCL2L14 synonymous SNV BCL2L14:NM_030766:exon3:c.C486T:p.Y162Y,BCL2L14:NM_138722:exon3:c.C486T:p.Y162Y,BCL2L14:NM_138723:exon3:c.C486T:p.Y162Y 0.46 0.4 0.46 0.47 0.58 0.43 0.5336 0.4102 0.4394 0.4587 0.5930 0.5874 0.5839 0.4729 0.52 0.41 0.58 0.43 0.57 rs879732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5345 0.4058 0.4459 0.6401 0.4558 0.5950 0.5837 0.5737 0.4763 0.5196 0.3978 0.4507 0.6457 0.4919 0.5896 0.5768 0.5400 hom 6936.76 219 12 12240199 . C T 6936.76 Mask AC=2;AF=1.00;AN=2;DP=219;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6500;MQ=58.97;MQ0=0;QD=31.67;VQSLOD=9.2946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,219:219:99:6936,545,0 12 12301898 12301898 C T exonic LRP6 nonsynonymous SNV LRP6:NM_002336:exon14:c.G3184A:p.V1062I 0.89 0.87 0.91 0.92 0.83 0.91 0.8474 0.8700 0.9344 0.9296 0.8124 0.8114 0.8480 0.8885 0.84 0.87 0.82 0.85 0.77 rs2302685 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 0.998 0.224 P -2.195 0.001 N -2.67 0.903 D 0.96 0.015 N 0.14 0.163 -0.936 0.433 T 0.000 0.000 T . . . 2.258 0.332 17.89 0.856 0.155 0.168 0.194 N c -0.682 -0.367 0.998 0.361 0.707 0.730 0 5.45 0.796 5.965 0.699 0.154 0.240 1.000 0.715 1.000 0.888 11.444 0.492 Six-bladed beta-propeller\x2c TolB-like ENSG00000070018.4 Cells_Transformed_fibroblasts 0.8506 0.8719 0.9258 0.8676 0.9335 0.8195 0.8077 0.8347 0.8875 0.8348 0.8707 0.9113 0.85 0.9376 0.8148 0.8037 0.8227 hom 7958.62 248 12 12301898 . C T 7958.62 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8314;MQ=58.32;MQ0=0;QD=32.09;VQSLOD=6.6393;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:248:99:7958,644,0 12 12483275 12483275 G A exonic MANSC1 synonymous SNV MANSC1:NM_018050:exon4:c.C982T:p.L328L 0.6 0.55 0.66 0.38 0.73 0.71 0.6867 0.5700 0.6319 0.3732 0.7179 0.7381 0.7115 0.7410 0.7 0.58 0.75 0.6 0.79 rs1861676 COSM147444 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6869 0.5701 0.6349 0.6675 0.3754 0.7124 0.7475 0.7013 0.7418 0.6723 0.5703 0.6516 0.6457 0.3340 0.7183 0.7562 0.7127 het 3062.82 241 12 12483275 . G A 3062.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.531;DP=241;DS;Dels=0.00;FS=2.178;HRun=1;HaplotypeScore=2.2931;MQ=59.50;MQ0=0;MQRankSum=0.812;QD=12.71;ReadPosRankSum=0.363;VQSLOD=6.7673;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:120,121:241:99:3093,0,3130 12 12483713 12483713 A G exonic MANSC1 synonymous SNV MANSC1:NM_018050:exon4:c.T544C:p.L182L 0.58 0.49 0.66 0.38 0.73 0.71 0.6833 0.5190 0.6296 0.3708 0.7241 0.7403 0.7126 0.7398 0.68 0.53 0.76 0.56 0.73 rs4763282 COSM147446 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6841 0.5160 0.6321 0.6675 0.3729 0.7164 0.7493 0.7018 0.7408 0.6589 0.5189 0.6514 0.6424 0.3317 0.7239 0.7577 0.7127 het 1117.95 91 12 12483713 . A G 1117.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.086;DP=91;Dels=0.00;FS=0.790;HRun=1;HaplotypeScore=2.7113;MQ=59.18;MQ0=0;MQRankSum=1.583;QD=12.29;ReadPosRankSum=1.448;VQSLOD=6.1537;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,41:91:99:1148,0,1385 12 12496086 12496086 C T exonic MANSC1 nonsynonymous SNV MANSC1:NM_018050:exon2:c.G163A:p.V55I 0.08 0.077 0.088 0.076 0.12 0.045 0.0971 0.0877 0.0572 0.0907 0.1066 0.1156 0.1013 0.0554 0.11 0.094 0.12 0.087 0.066 rs3741798 COSM3753026 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.474 0.049 N 1 0.090 P -1.245 0.008 N 1.99 0.361 T 0.24 0.045 N 0.013 0.100 -0.990 0.326 T 0.000 0.002 T . . . -1.095 0.029 0.010 0.600 0.062 0.002 0.012 N c -1.725 -1.623 0.803 0.242 0.707 0.730 0 -2.16 0.066 -0.505 0.064 -0.697 0.038 0.001 0.137 0.138 0.202 10.669 0.448 MANSC domain|Seven cysteines\x2c N-terminal . . 0.0952 0.0915 0.0574 0.0906 0.0874 0.1055 0.1174 0.1023 0.0548 0.1037 0.0933 0.0549 0.0894 0.0878 0.1033 0.1138 0.1141 het 2322.25 182 12 12496086 . C T 2322.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.656;DP=182;Dels=0.00;FS=0.550;HRun=0;HaplotypeScore=3.6629;MQ=58.77;MQ0=0;MQRankSum=-0.053;QD=12.76;ReadPosRankSum=-1.053;VQSLOD=6.0234;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,93:182:99:2352,0,2240 12 12814818 12814818 C T exonic GPR19 nonsynonymous SNV GPR19:NM_006143:exon4:c.G565A:p.V189I 0.89 0.71 0.92 1. 0.93 0.95 0.9279 0.7491 0.9441 0.9901 0.9841 0.9393 0.9097 0.9293 0.87 0.75 0.93 0.86 0.93 rs4763862 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.012 0.293 N 1.000 0.189 P 0.02 0.080 N 1.24 0.367 T 0.01 0.069 N 0.063 0.048 -0.910 0.469 T 0.000 0.000 T . . . -1.635 0.014 0.002 0.267 0.013 0.104 0.157 N c -1.361 -1.287 0.995 0.341 0.722 0.854 0 -1.28 0.088 -0.365 0.076 0.090 0.195 0.472 0.265 0.089 0.185 6.981 0.237 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9322 0.7459 0.9412 0.9315 0.9913 0.9808 0.9374 0.9220 0.9303 0.8922 0.7446 0.9175 0.9272 0.9932 0.9811 0.9415 0.9327 hom 3736.78 115 12 12814818 . C T 3736.78 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7312;MQ=59.68;MQ0=0;QD=32.49;VQSLOD=9.3822;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3736,304,0 12 13061294 13061294 C T exonic GPRC5A synonymous SNV GPRC5A:NM_003979:exon2:c.C111T:p.A37A 0.36 0.04 0.45 0.72 0.33 0.4 0.3479 0.0698 0.4983 0.7495 0.4049 0.2947 0.3974 0.3973 0.21 0.073 0.28 0.24 0.25 rs2075288 COSM3753047 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3635 0.0665 0.5024 0.3694 0.7481 0.4082 0.2853 0.3535 0.3957 0.2870 0.0752 0.4689 0.4094 0.7361 0.4107 0.3138 0.3885 hom 4599.16 133 12 13061294 . C T 4599.16 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8273;MQ=60.00;MQ0=0;QD=34.58;VQSLOD=9.1821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4599,361,0 12 13103266 13103266 G T exonic GPRC5D nonsynonymous SNV GPRC5D:NM_018654:exon1:c.C53A:p.A18D 0.066 0.017 0.068 0.14 0.059 0.059 0.0651 0.0189 0.0577 0.1305 0.0519 0.0681 0.0590 0.0578 0.054 0.021 0.071 0.065 0.049 rs3741822 COSM3998703 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.62 0.064 T 0.0 0.026 B 0.0 0.013 B 0.825 0.069 N 1 0.090 P 0 0.065 N 1.94 0.911 T -1.59 0.397 N 0.465 0.516 -0.952 0.407 T 0.013 0.050 T . . . -1.700 0.013 0.002 0.579 0.057 0.119 0.168 N c -1.223 -1.194 0.018 0.131 0.554 0.246 0 0.18 0.143 0.349 0.197 -0.965 0.023 0.050 0.212 0.001 0.043 7.046 0.241 . ENSG00000255621.1|ENSG00000183935.3|ENSG00000183935.3|ENSG00000183935.3 Brain_Cerebellum|Cells_Transformed_fibroblasts|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.0644 0.0179 0.0583 0.0396 0.1271 0.0550 0.0693 0.0605 0.0562 0.0519 0.0195 0.0453 0.0629 0.1151 0.0570 0.0620 0.0643 het 2141.47 197 12 13103266 . G T 2141.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.989;DP=197;Dels=0.00;FS=5.141;HRun=0;HaplotypeScore=5.5971;MQ=58.80;MQ0=0;MQRankSum=1.432;QD=10.87;ReadPosRankSum=-0.951;VQSLOD=4.6740;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,88:197:99:2171,0,2980 12 13214537 13214537 A G exonic FAM234B synonymous SNV FAM234B:NM_020853:exon4:c.A561G:p.V187V 0.63 0.47 0.71 0.5 0.83 0.72 0.7503 0.5137 0.5942 0.4800 0.7787 0.8513 0.7881 0.7272 0.74 0.53 0.86 0.66 0.81 rs3741818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7470 0.5075 0.6190 0.7655 0.4728 0.7863 0.8559 0.7772 0.7263 0.7257 0.5234 0.6615 0.7583 0.4410 0.7841 0.8582 0.7923 hom 2387.48 72 12 13214537 . A G 2387.48 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.77;MQ0=0;QD=33.16;VQSLOD=9.7468;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2420,187,0 12 13221606 13221606 T C exonic FAM234B synonymous SNV FAM234B:NM_020853:exon9:c.T1329C:p.D443D 0.98 0.95 0.99 1. 1. 1. 0.9948 0.9455 0.9969 1 1 0.9996 0.9978 0.9999 0.98 0.95 1. 1. 1. rs1386005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9957 0.9429 0.9967 0.9998 1 1.0000 0.9996 0.9951 0.9999 0.9833 0.9427 0.9952 1 1 0.9997 0.9993 0.9980 hom 6882.58 231 12 13221606 . T C 6882.58 Mask AC=2;AF=1.00;AN=2;DP=231;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6277;MQ=58.71;MQ0=0;QD=29.79;VQSLOD=8.4235;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,231:231:99:6882,518,0 12 13716638 13716638 G A exonic GRIN2B synonymous SNV GRIN2B:NM_000834:exon13:c.C3534T:p.H1178H 0.25 0.16 0.45 0.014 0.5 0.22 0.3915 0.1987 0.4446 0.0142 0.4073 0.4995 0.3590 0.2318 0.4 0.21 0.5 0.26 0.46 rs1806191 COSM4146926 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Likely benign|Likely benign not_specified|Intellectual_Disability\x2c_Dominant RCV000117197.2|RCV000313654.1 MedGen|MedGen CN169374|CN239282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3999 0.1941 0.4595 0.4467 0.0139 0.4128 0.5079 0.4318 0.2351 0.3744 0.2001 0.4593 0.4570 0.0117 0.4238 0.4953 0.4018 het 2000.97 163 12 13716638 . G A 2000.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.318;DP=163;Dels=0.00;FS=5.046;HRun=0;HaplotypeScore=7.4858;MQ=59.14;MQ0=0;MQRankSum=-0.787;QD=12.28;ReadPosRankSum=1.332;VQSLOD=4.2617;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,77:163:99:2031,0,2254 12 13717508 13717508 G A exonic GRIN2B synonymous SNV GRIN2B:NM_000834:exon13:c.C2664T:p.T888T 0.3 0.07 0.32 0.52 0.28 0.41 0.3102 0.1013 0.3495 0.5179 0.3687 0.2769 0.3524 0.4114 0.22 0.11 0.27 0.26 0.28 rs1806201 COSM430806 2(large_intestine) not provided|Likely benign|Likely benign not_provided|not_specified|Intellectual_Disability\x2c_Dominant RCV000084728.1|RCV000117194.2|RCV000377659.1 MedGen|MedGen|MedGen CN221809|CN169374|CN239282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3166 0.0987 0.3296 0.3338 0.5202 0.3717 0.2710 0.3061 0.4181 0.2536 0.1020 0.2983 0.3411 0.5068 0.3610 0.2809 0.3194 het 4445.14 246 12 13717508 . G A 4445.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.732;DP=246;DS;Dels=0.00;FS=6.023;HRun=0;HaplotypeScore=8.9129;MQ=59.41;MQ0=0;MQRankSum=0.673;QD=18.07;ReadPosRankSum=1.331;VQSLOD=3.5571;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,124:246:99:3758,0,3331 12 13764774 13764774 G A exonic GRIN2B synonymous SNV GRIN2B:NM_000834:exon8:c.C1665T:p.S555S 0.19 0.15 0.37 0.0089 0.33 0.15 0.2647 0.1671 0.3845 0.0128 0.1812 0.3229 0.2356 0.1737 0.28 0.17 0.33 0.2 0.31 rs1805482 . . Likely benign|Likely benign not_specified|Intellectual_Disability\x2c_Dominant RCV000117191.2|RCV000315216.1 MedGen|MedGen CN169374|CN239282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2715 0.1598 0.3907 0.3035 0.0122 0.1839 0.3309 0.3052 0.1743 0.2367 0.1702 0.3971 0.3113 0.0099 0.1816 0.3008 0.2617 het 3199.48 232 12 13764774 . G A 3199.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.708;DP=232;DS;Dels=0.00;FS=2.317;HRun=0;HaplotypeScore=1.6553;MQ=58.49;MQ0=0;MQRankSum=-1.809;QD=13.79;ReadPosRankSum=1.785;VQSLOD=4.4441;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,128:232:99:3229,0,2699 12 14018777 14018777 G C exonic GRIN2B synonymous SNV GRIN2B:NM_000834:exon2:c.C366G:p.P122P 0.44 0.5 0.31 0.49 0.36 0.49 0.4172 0.5044 0.2878 0.4824 0.4046 0.3970 0.4361 0.5042 0.43 0.49 0.4 0.43 0.33 rs7301328 . . other|Likely benign not_specified|Intellectual_Disability\x2c_Dominant RCV000117198.3|RCV000259325.1 MedGen|MedGen CN169374|CN239282 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4077 0.4991 0.2937 0.3769 0.4899 0.4024 0.3959 0.3949 0.4990 0.4270 0.4854 0.3134 0.43 0.4764 0.4021 0.4014 0.4031 hom 4222.68 137 12 14018777 . G C 4222.68 Mask AC=2;AF=1.00;AN=2;DP=137;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9981;MQ=59.42;MQ0=0;QD=30.82;VQSLOD=8.2293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:137:99:4186,361,0 12 14587301 14587301 A G exonic ATF7IP nonsynonymous SNV ATF7IP:NM_001286514:exon3:c.A1586G:p.K529R,ATF7IP:NM_001286515:exon3:c.A1586G:p.K529R,ATF7IP:NM_018179:exon3:c.A1589G:p.K530R,ATF7IP:NM_181352:exon3:c.A1613G:p.K538R 0.44 0.29 0.37 0.62 0.5 0.46 0.4714 0.2816 0.3968 0.6034 0.5985 0.4892 0.4989 0.4484 0.42 0.3 0.49 0.46 0.43 rs3213764 COSM4777968;COSM1128636 6(prostate) . . . . . Prostate-specific antigen levels . .05 23359319 rs3213764 2E-9 0.02 0.538 D 0.988 0.604 D 0.794 0.578 P 0.044 0.237 N 0.027 0.390 P 1.87 0.498 L 1.95 0.225 T -0.62 0.260 N 0.083 0.211 -0.964 0.385 T 0.000 0.000 T . . . 5.053 0.680 25.2 0.999 0.952 0.817 0.408 D c 0.387 0.361 0.968 0.290 0.732 0.924 0 4.43 0.528 2.113 0.413 1.140 0.893 0.993 0.376 0.997 0.653 10.634 0.446 . . . 0.4660 0.2664 0.3798 0.5244 0.5863 0.5977 0.4765 0.4726 0.4345 0.4591 0.2876 0.3930 0.4967 0.5875 0.6134 0.5092 0.5061 het 1476.92 138 12 14587301 . A G 1476.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.664;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.10;MQ0=0;MQRankSum=1.265;QD=10.70;ReadPosRankSum=0.283;VQSLOD=6.6539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,61:138:99:1507,0,1849 12 14664595 14664595 A G exonic PLBD1 synonymous SNV PLBD1:NM_024829:exon7:c.T895C:p.L299L 0.28 0.19 0.39 0.19 0.26 0.46 0.3167 0.1988 0.4152 0.1999 0.1968 0.3088 0.3161 0.4627 0.27 0.2 0.3 0.32 0.33 rs10846013 COSM3998718 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3169 0.1940 0.4063 0.3074 0.1980 0.2041 0.3094 0.3146 0.4595 0.2552 0.1875 0.3926 0.2852 0.1905 0.2091 0.3016 0.2924 het 1301.77 95 12 14664595 . A G 1301.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.155;DP=95;Dels=0.00;FS=0.830;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=1.247;QD=13.70;ReadPosRankSum=-0.622;VQSLOD=6.3968;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,48:95:99:1332,0,1305 12 14688644 14688644 C T exonic PLBD1 nonsynonymous SNV PLBD1:NM_024829:exon6:c.G793A:p.V265I 0.89 0.63 0.96 0.99 0.98 0.97 0.9546 0.6825 0.9772 0.9880 0.9876 0.9812 0.9615 0.9711 0.88 0.7 0.98 0.91 0.97 rs7957558 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.000 0.473 N 1.000 0.090 P -1.96 0.002 N 2.39 0.157 T 0.53 0.028 N 0.034 0.014 -0.973 0.367 T 0.000 0.000 T . . . 0.788 0.169 9.392 0.669 0.080 0.106 0.159 N c -1.002 -0.760 0.000 0.068 0.693 0.558 0 3.14 0.350 1.788 0.381 0.119 0.209 1.000 0.715 0.870 0.364 6.491 0.212 . . . 0.9602 0.6740 0.9741 0.9724 0.9879 0.9877 0.9813 0.9653 0.9704 0.8993 0.6844 0.9678 0.9669 0.9858 0.9897 0.9837 0.9755 hom 5200.84 163 12 14688644 . C T 5200.84 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=58.94;MQ0=0;QD=31.91;VQSLOD=9.5790;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:163:99:5200,412,0 12 14794062 14794062 G A exonic GUCY2C synonymous SNV GUCY2C:NM_004963:exon18:c.C2022T:p.I674I 0.82 0.39 0.95 0.99 0.99 0.97 0.9411 0.4768 0.9747 0.9899 0.9881 0.9867 0.9604 0.9801 0.82 0.49 0.99 0.73 0.97 rs10772800 . . Benign not_specified RCV000456044.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9512 0.4655 0.9734 0.9695 0.9898 0.9880 0.9877 0.9655 0.9796 0.8437 0.4766 0.9582 0.9669 0.9870 0.9897 0.9895 0.9734 hom 2846.21 84 12 14794062 . G A 2846.21 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=33.88;VQSLOD=9.0538;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2879,235,0 12 14829893 14829893 A C exonic GUCY2C nonsynonymous SNV GUCY2C:NM_004963:exon7:c.T843G:p.F281L 0.99 0.95 1. 1. 1. 1. 0.9962 0.9602 0.9971 1 1 0.9999 1 0.9998 0.99 0.96 1. 0.92 0.97 rs1420635 . . . . . . . . . . . . . 0.296 0.147 T 0.011 0.147 B 0.015 0.162 B 0.000 0.843 D 0.999 0.218 P 1.39 0.351 L -0.69 0.727 T -2.37 0.522 N 0.435 0.490 -1.005 0.285 T 0.000 0.000 T . . . -0.256 0.072 0.831 0.715 0.093 0.053 0.110 N c -1.205 -1.238 0.000 0.012 0.615 0.372 0 -1.85 0.073 0.103 0.150 -0.587 0.045 0.048 0.211 0.034 0.151 10.192 0.420 Periplasmic binding protein-like I . . 0.9969 0.9585 0.9975 0.9999 1 1 0.9998 0.9986 0.9998 0.9876 0.9565 0.9976 1 1 1 0.9999 0.9980 hom 2794.72 91 12 14829893 . A C 2794.72 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.0635;MQ=59.18;MQ0=0;QD=30.71;VQSLOD=8.6614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2828,211,0 12 14976497 14976497 T C exonic C12orf60 synonymous SNV C12orf60:NM_175874:exon2:c.T628C:p.L210L 0.054 0.0061 0.053 0.03 0.12 0.082 0.0824 0.0191 0.0400 0.0278 0.0826 0.1047 0.0852 0.0901 0.077 0.024 0.1 0.022 0.074 rs61920259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0823 0.0175 0.0451 0.0919 0.0299 0.0868 0.1058 0.0868 0.0921 0.0729 0.0198 0.0442 0.0828 0.0241 0.0810 0.1069 0.0988 het 776.77 43 12 14976497 . T C 776.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.464;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;MQRankSum=0.454;QD=18.06;ReadPosRankSum=0.946;VQSLOD=6.6866;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,29:43:99:807,0,309 12 15095558 15095558 C G exonic ARHGDIB synonymous SNV ARHGDIB:NM_001175:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321421:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321422:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321423:exon6:c.G504C:p.A168A,ARHGDIB:NM_001321420:exon7:c.G504C:p.A168A 0.48 0.41 0.54 0.57 0.56 0.37 0.5273 0.4310 0.6010 0.5724 0.6541 0.5452 0.5584 0.3876 0.49 0.42 0.53 0.45 0.61 rs4703 COSM3764399 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5351 0.4288 0.6039 0.4273 0.5764 0.6566 0.5484 0.5297 0.3894 0.5345 0.4262 0.5933 0.4371 0.6015 0.6529 0.5601 0.5509 het 2468.31 199 12 15095558 . C G 2468.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.110;DP=199;DS;Dels=0.00;FS=1.813;HRun=1;HaplotypeScore=3.5088;MQ=59.32;MQ0=0;MQRankSum=-0.102;QD=12.40;ReadPosRankSum=-0.699;VQSLOD=6.0233;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:105,94:199:99:2498,0,2531 12 15103605 15103605 A G exonic ARHGDIB synonymous SNV ARHGDIB:NM_001175:exon2:c.T42C:p.D14D,ARHGDIB:NM_001321421:exon2:c.T42C:p.D14D,ARHGDIB:NM_001321422:exon2:c.T42C:p.D14D,ARHGDIB:NM_001321423:exon2:c.T42C:p.D14D,ARHGDIB:NM_001321420:exon3:c.T42C:p.D14D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 0.99 1. rs2430711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 2710.22 85 12 15103605 . A G 2710.22 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=31.88;VQSLOD=8.8213;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2743,217,0 12 15776164 15776164 A C exonic EPS8 nonsynonymous SNV EPS8:NM_004447:exon20:c.T2283G:p.D761E 0.0044 . 0.013 0.001 0.008 0.0041 0.0074 0.0019 0.0047 0 0.0029 0.0098 0.0143 0.0082 0.0082 0.0014 0.012 . 0.016 rs7137185 . . . . . . . . . . . . . 0.986 0.020 T 0.0 0.026 B 0.002 0.063 B 0.000 0.629 D 0.977 0.394 D 0.325 0.104 N 2.36 0.161 T 0.15 0.096 N 0.114 0.293 -0.977 0.356 T 0.012 0.046 T . . . 1.337 0.225 12.46 0.849 0.150 0.688 0.337 D c -0.646 -0.444 1.000 0.420 0.706 0.609 0 1.88 0.245 0.221 0.173 -0.116 0.114 0.973 0.343 0.997 0.653 6.504 0.212 Sterile alpha motif/pointed domain . . 0.0073 0.0012 0.0052 0.0257 0 0.0025 0.0089 0.0093 0.0077 0.0051 0.0007 0.0036 0.0265 0 0.0020 0.0083 0.0092 het 774.39 89 12 15776164 . A C 774.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.856;DP=89;Dels=0.00;FS=1.847;HRun=1;HaplotypeScore=4.7184;MQ=59.28;MQ0=0;MQRankSum=-0.013;QD=8.70;ReadPosRankSum=0.724;VQSLOD=5.3505;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,33:89:99:804,0,1450 12 18435399 18435401 CCC - exonic PIK3C2G nonframeshift deletion PIK3C2G:NM_001288772:exon2:c.384_386del:p.P129del,PIK3C2G:NM_004570:exon2:c.384_386del:p.P129del 0.31 0.2 0.39 0.3 0.39 0.31 0.3732 0.2150 0.3766 0.2704 0.4503 0.4097 0.3683 0.3397 0.34 0.22 0.4 . . rs796435817 COSM5713232;COSM5713231;COSM5713230 1(breast);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3763 0.2128 0.3874 0.3686 0.2682 0.4387 0.4102 0.3854 0.3398 0.3505 0.2142 0.3759 0.3758 0.2612 0.4338 0.4158 0.3887 het 770.89 31 12 18435398 . GCCC G 770.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.604;DP=31;FS=1.607;HRun=4;HaplotypeScore=138.0927;MQ=56.17;MQ0=0;MQRankSum=0.084;QD=24.87;ReadPosRankSum=1.841;set=variant2 GT:AD:DP:GQ:PL 0/1:14,17:31:99:810,0,808 12 18435452 18435452 C T exonic PIK3C2G nonsynonymous SNV PIK3C2G:NM_001288772:exon2:c.C437T:p.P146L,PIK3C2G:NM_004570:exon2:c.C437T:p.P146L 0.35 0.36 0.41 0.3 0.39 0.31 0.3865 0.3596 0.3843 0.2717 0.4505 0.4110 0.3700 0.3402 0.39 0.36 0.4 0.34 . rs11044004 COSM3998726;COSM5505524;COSM3998727 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . 0.047 0.403 D 0.003 0.102 B 0.009 0.133 B 0.000 0.005 N 1 0.090 P 1.5 0.380 L 1.22 0.639 T -2.82 0.595 D 0.06 0.071 -1.054 0.133 T 0.000 0.000 T . . . 0.582 0.150 8.028 0.758 0.109 0.083 0.141 N c -0.812 -0.781 0.377 0.199 0.487 0.133 0 3.9 0.441 0.673 0.247 0.935 0.490 0.001 0.137 0.050 0.164 9.175 0.361 . . . 0.3867 0.3565 0.3945 0.3682 0.2687 0.4392 0.4108 0.3909 0.3401 0.3920 0.3533 0.3858 0.3841 0.2627 0.4343 0.4186 0.3992 het 425.19 24 12 18435452 . C T 425.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.954;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=59.03;MQ0=0;MQRankSum=0.298;QD=17.72;ReadPosRankSum=-0.179;VQSLOD=6.5354;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,15:24:99:455,0,266 12 18446881 18446881 C T exonic PIK3C2G synonymous SNV PIK3C2G:NM_001288772:exon5:c.C966T:p.C322C,PIK3C2G:NM_001288774:exon5:c.C300T:p.C100C,PIK3C2G:NM_004570:exon5:c.C966T:p.C322C 0.027 0.0038 0.072 . 0.068 0.012 0.0639 0.0143 0.0361 0.0002 0.0592 0.0951 0.0631 0.0213 0.065 0.015 0.087 0.022 . rs7301521 COSM5827157;COSM3753081;COSM3753080 1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0610 0.0129 0.0369 0.0940 0.0001 0.0630 0.0921 0.0696 0.0197 0.0622 0.0166 0.0430 0.0927 0 0.0531 0.0974 0.0748 het 412.15 48 12 18446881 . C T 412.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.383;DP=48;Dels=0.00;FS=4.057;HRun=0;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;MQRankSum=0.956;QD=8.59;ReadPosRankSum=0.977;VQSLOD=4.1702;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,21:48:99:442,0,601 12 18649057 18649057 C T exonic PIK3C2G nonsynonymous SNV PIK3C2G:NM_004570:exon20:c.C2732T:p.P911L,PIK3C2G:NM_001288772:exon21:c.C2855T:p.P952L,PIK3C2G:NM_001288774:exon21:c.C2189T:p.P730L 0.37 0.5 0.37 0.3 0.24 0.42 0.3560 0.5087 0.4472 0.4204 0.2132 0.2978 0.2866 0.3954 0.29 0.44 0.23 0.35 . rs12312266 COSM3753084;COSM5001076;COSM3753085 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.017 0.784 D 1.0 0.899 D 0.985 0.749 D 0.000 0.559 D 0.000 0.588 P 3.08 0.875 M -1.55 0.817 D -8.18 0.968 D 0.185 0.685 -1.157 0.008 T 0.000 0.000 T . . . 7.430 0.951 34 0.999 0.969 0.985 0.829 D c 0.748 0.689 1.000 0.448 0.487 0.133 0 4.37 0.517 5.752 0.682 0.935 0.490 1.000 0.715 1.000 0.888 16.723 0.852 Protein kinase-like domain . . 0.2700 0.4532 0.2919 0.2491 0.2809 0.1871 0.2275 0.2575 0.3691 0.2980 0.4763 0.3210 0.2384 0.2875 0.1881 0.2235 0.2561 hom 312.36 11 12 18649057 . C T 312.36 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.66;MQ0=0;QD=28.40;VQSLOD=7.9618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:345,27,0 12 20766559 20766559 C T exonic PDE3A synonymous SNV PDE3A:NM_001244683:exon2:c.C228T:p.V76V,PDE3A:NM_000921:exon3:c.C1194T:p.V398V 0.91 0.79 0.94 1. 0.94 0.93 0.9298 0.8032 0.9500 0.9972 0.9651 0.9362 0.9328 0.9202 0.89 0.81 0.93 0.88 0.89 rs10743380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9330 0.8052 0.9517 0.9316 0.9972 0.9606 0.9338 0.9301 0.9187 0.9068 0.8066 0.9439 0.9172 0.9926 0.9591 0.9394 0.9369 het 1284.84 104 12 20766559 . C T 1284.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.741;DP=104;Dels=0.00;FS=2.869;HRun=1;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=0.926;QD=12.35;ReadPosRankSum=0.393;VQSLOD=6.5210;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,52:104:99:1315,0,1560 12 20852546 20852546 C T exonic SLCO1C1 synonymous SNV SLCO1C1:NM_017435:exon2:c.C36T:p.F12F,SLCO1C1:NM_001145945:exon3:c.C36T:p.F12F,SLCO1C1:NM_001145946:exon3:c.C36T:p.F12F 0.032 0.0061 0.12 . 0.059 0.011 0.0630 0.0152 0.1679 0.0013 0.0687 0.0715 0.0597 0.0168 0.055 0.018 0.074 0.011 0.057 rs34243130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0683 0.0142 0.1635 0.0142 0.0011 0.0734 0.0761 0.0560 0.0171 0.0576 0.0155 0.1348 0.0067 0 0.0722 0.0803 0.0777 het 434.44 38 12 20852546 . C T 434.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.979;DP=38;Dels=0.00;FS=2.984;HRun=2;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;MQRankSum=-0.570;QD=11.43;ReadPosRankSum=0.395;VQSLOD=5.3588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,18:38:99:464,0,551 12 20903757 20903757 T C exonic SLCO1C1 synonymous SNV SLCO1C1:NM_001145944:exon12:c.T1593C:p.H531H,SLCO1C1:NM_001145946:exon15:c.T1947C:p.H649H 0.48 0.2 0.57 0.59 0.5 0.65 0.5397 0.2292 0.6509 0.6135 0.4788 0.5411 0.5088 0.6389 0.45 0.24 0.55 0.55 0.53 rs10841611 COSM1135345 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5460 0.2217 0.6397 0.5199 0.6144 0.4789 0.5437 0.5347 0.6343 0.4416 0.2271 0.5835 0.4967 0.5996 0.4705 0.5297 0.5031 het 832.68 76 12 20903757 . T C 832.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.105;DP=76;Dels=0.00;FS=1.948;HRun=0;HaplotypeScore=3.5913;MQ=58.45;MQ0=0;MQRankSum=1.382;QD=10.96;ReadPosRankSum=1.278;VQSLOD=4.8125;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,37:76:99:863,0,1033 12 20905250 20905250 C T exonic SLCO1C1 nonsynonymous SNV SLCO1C1:NM_001145944:exon13:c.C1676T:p.S559F,SLCO1C1:NM_001145946:exon16:c.C2030T:p.S677F 0.47 0.2 0.57 0.59 0.49 0.61 0.5359 0.2360 0.6467 0.6129 0.4807 0.5385 0.5045 0.6193 0.44 0.25 0.54 0.53 0.43 rs6487138 COSM3998737;COSM3998736 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.002 0.721 D 0.946 0.514 P 0.789 0.558 P 0.004 0.010 N 0.381 0.810 P . . . 1.05 0.400 T -1.49 0.364 N 0.082 0.266 -0.920 0.455 T 0.000 0.000 T . . . 5.113 0.689 25.3 0.995 0.700 0.905 0.514 D c 0.519 0.553 0.952 0.279 0.487 0.133 0 5.37 0.769 3.249 0.509 0.935 0.490 1.000 0.715 0.999 0.750 16.148 0.813 Major facilitator superfamily domain . . 0.5359 0.2253 0.6332 0.5245 0.6137 0.4818 0.5364 0.5223 0.5940 0.4422 0.2351 0.5754 0.49 0.6009 0.4754 0.5261 0.4990 het 580.34 50 12 20905250 . C T 580.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.522;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;MQRankSum=0.388;QD=11.61;ReadPosRankSum=-0.058;VQSLOD=6.3521;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:25,25:50:99:610,0,679 12 21011480 21011480 T G exonic SLCO1B3 nonsynonymous SNV SLCO1B3:NM_001349920:exon3:c.T250G:p.S84A,SLCO1B3:NM_019844:exon5:c.T334G:p.S112A 0.7 0.36 0.84 0.7 0.86 0.91 0.8045 0.4383 0.7924 0.7248 0.7557 0.8532 0.8128 0.9076 0.72 0.45 0.86 0.7 0.89 rs4149117 COSM3998738 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Rotor_syndrome RCV000245173.1|RCV000356421.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0220991:237450:ORPHA3111:32891000 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.202 P -1.73 0.003 N 0.68 0.797 T 2.78 0.002 N 0.047 0.369 -0.938 0.430 T 0.000 0.000 T . . . 0.800 0.170 9.463 0.270 0.013 0.096 0.152 N c -0.836 -0.591 0.166 0.177 0.487 0.133 0 3.99 0.454 4.503 0.599 -0.018 0.130 0.994 0.380 0.885 0.372 13.290 0.595 Major facilitator superfamily domain ENSG00000111700.8 Nerve_Tibial 0.8094 0.4218 0.8017 0.8917 0.7246 0.7559 0.8542 0.8260 0.9052 0.7021 0.4330 0.8007 0.8841 0.7351 0.7477 0.8294 0.7924 hom 3654.63 124 12 21011480 . T G 3654.63 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.74;MQ0=0;QD=29.47;VQSLOD=8.8974;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3654,277,0 12 21015760 21015760 G A exonic SLCO1B3 nonsynonymous SNV SLCO1B3:NM_001349920:exon6:c.G615A:p.M205I,SLCO1B3:NM_019844:exon8:c.G699A:p.M233I 0.7 0.36 0.84 0.7 0.86 0.91 0.8044 0.4381 0.7921 0.7249 0.7555 0.8532 0.8128 0.9074 0.72 0.45 0.86 0.71 0.89 rs7311358 COSM3998740 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Rotor_syndrome RCV000253120.1|RCV000351083.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0220991:237450:ORPHA3111:32891000 . . . . . . 0.447 0.147 T 0.092 0.237 B 0.03 0.205 B 0.008 0.310 N 0.999 0.588 P 0.33 0.104 N 1.31 0.354 T -1.69 0.402 N 0.116 0.331 -1.046 0.156 T 0.000 0.000 T . . . 0.775 0.168 9.308 0.896 0.183 0.113 0.163 N c -1.130 -1.124 0.000 0.029 0.487 0.133 0 -2.0 0.070 -1.262 0.029 -0.436 0.058 0.003 0.159 0.910 0.387 4.723 0.122 Major facilitator superfamily domain ENSG00000111700.8 Nerve_Tibial 0.8095 0.4217 0.8019 0.8919 0.7244 0.7560 0.8544 0.8266 0.9054 0.7024 0.4328 0.8002 0.8833 0.7379 0.7470 0.8296 0.7933 hom 5153.65 182 12 21015760 . G A 5153.65 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.16;MQ0=0;QD=28.32;VQSLOD=7.7048;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5153,400,0 12 21028208 21028208 G C exonic SLCO1B3 nonsynonymous SNV SLCO1B3:NM_001349920:exon7:c.G683C:p.G228A,SLCO1B3:NM_019844:exon9:c.G767C:p.G256A 0.066 0.0076 0.11 0.003 0.17 0.073 0.1132 0.0255 0.0634 0.0001 0.0989 0.1621 0.1233 0.0698 0.11 0.033 0.16 0.098 0.16 rs60140950 COSM5019337 6(soft_tissue) Likely benign Rotor_syndrome RCV000368578.1 MedGen:OMIM:Orphanet:SNOMED_CT C0220991:237450:ORPHA3111:32891000 . . . . . . 0.0 0.912 D 0.997 0.715 D 0.989 0.774 D 0.000 0.843 D 0.000 0.810 P 3.875 0.960 H -1.43 0.807 T -5.56 0.887 D 0.495 0.541 -0.893 0.487 T 0.008 0.028 T . . . 4.186 0.561 23.8 0.998 0.844 0.962 0.679 D c 0.698 0.545 0.784 0.239 0.487 0.133 0 3.92 0.444 7.828 0.848 0.810 0.333 1.000 0.715 0.915 0.391 13.854 0.629 Major facilitator superfamily domain . . 0.1125 0.0237 0.0736 0.1927 0.0005 0.1014 0.1589 0.1461 0.0695 0.0959 0.0305 0.0909 0.2086 0.0012 0.1014 0.1398 0.1135 het 2400.51 172 12 21028208 . G C 2400.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.718;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9905;MQ=58.80;MQ0=0;MQRankSum=-0.251;QD=13.96;ReadPosRankSum=-0.683;VQSLOD=5.4197;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,89:172:99:2431,0,2110 12 21036411 21036411 A G exonic SLCO1B3 synonymous SNV SLCO1B3:NM_001349920:exon11:c.A1473G:p.A491A,SLCO1B3:NM_019844:exon13:c.A1557G:p.A519A 0.7 0.36 0.84 0.7 0.86 0.91 0.8047 0.4389 0.7920 0.7258 0.7559 0.8530 0.8128 0.9087 0.72 0.45 0.86 0.67 0.85 rs2053098 COSM3998741 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Rotor_syndrome RCV000253382.1|RCV000328449.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0220991:237450:ORPHA3111:32891000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8123 0.4260 0.8054 0.8935 0.7298 0.7560 0.8551 0.8312 0.9080 0.7023 0.4326 0.8002 0.8841 0.7348 0.7468 0.8298 0.7904 hom 2479.75 83 12 21036411 . A G 2479.75 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.82;MQ0=0;QD=29.88;VQSLOD=7.9779;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2513,202,0 12 21054369 21054369 G A exonic SLCO1B3 synonymous SNV SLCO1B3:NM_001349920:exon13:c.G1749A:p.G583G,SLCO1B3:NM_019844:exon15:c.G1833A:p.G611G 0.68 0.24 0.79 0.73 0.88 0.94 0.8182 0.3344 0.7746 0.7524 0.7732 0.8839 0.8260 0.9403 0.71 0.36 0.89 0.65 0.85 rs3764006 COSM3753092 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8187 0.3173 0.7622 0.8914 0.7426 0.7764 0.8856 0.8344 0.9351 0.7044 0.3483 0.7769 0.9172 0.7531 0.7802 0.8721 0.8173 hom 4386.68 142 12 21054369 . G A 4386.68 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=58.75;MQ0=0;QD=30.89;VQSLOD=9.2608;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4386,337,0 12 21176135 21176135 T C exonic SLCO1B7 nonsynonymous SNV SLCO1B7:NM_001009562:exon5:c.T500C:p.V167A 0.96 0.96 0.91 1. 0.94 0.97 0.9496 0.9612 0.9076 0.9966 0.9550 0.9427 0.9477 0.9725 0.95 0.96 0.94 1. . rs1546308 COSM3753093 1(large_intestine) . . . . . . . . . . . 0.507 0.089 T 0.0 0.026 B 0.001 0.040 B 0.007 0.319 N 1.000 0.198 P -1.955 0.002 N -1.39 0.804 T 2.21 0.003 N 0.012 0.009 -0.970 0.372 T 0.000 0.000 T . . . -0.492 0.056 0.230 0.668 0.079 0.000 0.002 N c -1.501 -1.424 0.000 0.029 0.487 0.133 0 2.54 0.295 1.817 0.384 -0.118 0.114 0.002 0.151 0.017 0.128 7.439 0.262 Major facilitator superfamily domain . . 0.9471 0.9615 0.9057 0.9487 0.9975 0.9539 0.9416 0.9394 0.9720 0.9483 0.9621 0.9173 0.9669 0.9975 0.9502 0.9369 0.9347 hom 1038.75 35 12 21176135 . T C 1038.75 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=29.68;VQSLOD=8.4754;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:81.26:1072,81,0 12 21329738 21329738 A G exonic SLCO1B1 nonsynonymous SNV SLCO1B1:NM_006446:exon5:c.A388G:p.N130D 0.62 0.82 0.47 0.76 0.4 0.55 0.4795 0.7680 0.4303 0.7499 0.4494 0.4107 0.5022 0.4795 0.53 0.77 0.4 0.64 0.32 rs2306283 COSM4146945 1(pancreas);2(thyroid) Benign|Benign not_specified|Rotor_syndrome RCV000251891.1|RCV000405902.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0220991:237450:ORPHA3111:32891000 . . . . . . 0.45 0.090 T 0.0 0.026 B 0.003 0.080 B 0.189 0.032 N 1 0.090 P 0.6 0.156 N 1.12 0.387 T -1.78 0.420 N 0.005 0.000 -0.983 0.343 T 0.000 0.000 T . . . -1.733 0.012 0.002 0.462 0.036 0.012 0.042 N c -1.768 -1.805 0.000 0.012 0.487 0.133 0 -2.63 0.057 -0.275 0.085 -1.165 0.017 0.000 0.063 0.000 0.016 9.285 0.367 Major facilitator superfamily domain . . 0.4720 0.7768 0.4333 0.4493 0.7490 0.4492 0.4043 0.4652 0.4764 0.5307 0.7688 0.4412 0.4262 0.7571 0.4593 0.3971 0.4414 het 1190.71 104 12 21329738 . A G 1190.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.685;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=0.325;QD=11.45;ReadPosRankSum=0.605;VQSLOD=6.5834;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,51:104:99:1221,0,1366 12 21331549 21331549 T C exonic SLCO1B1 nonsynonymous SNV SLCO1B1:NM_006446:exon6:c.T521C:p.V174A 0.088 0.014 0.13 0.12 0.16 0.043 0.1294 0.0284 0.1065 0.1263 0.2136 0.1603 0.1667 0.0503 0.11 0.036 0.16 0.054 0.11 rs4149056 COSM4987492 1(haematopoietic_and_lymphoid_tissue);5(soft_tissue) drug response|drug response|drug response|drug response|drug response|Benign|other|drug response rosuvastatin_response_-_Other|pravastatin_response_-_Metabolism/PK|simvastatin_response_-_Toxicity/ADR|hmg_coa_reductase_inhibitors_response_-_Toxicity/ADR|cerivastatin_response_-_Toxicity/ADR|Rotor_syndrome|not_provided|hmg_coa_reductase_inhibitors_response_-_Toxicity/ADR\x2c_Metabolism/PK RCV000211187.1|RCV000211193.1|RCV000211245.1|RCV000211308.1|RCV000211366.1|RCV000311457.1|RCV000325818.1|RCV000417143.1 MedGen|MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen CN236613|CN236605|CN236621|CN236512|CN236499|C0220991:237450:ORPHA3111:32891000|CN221809|CN240596 Response to statin therapy 4.50 . 18650507 rs4149056 2E-9 0.001 0.784 D 1.0 0.899 D 0.996 0.832 D 0.001 0.395 N 1.000 0.182 P 3.31 0.908 M 0.95 0.433 T -3.87 0.726 D 0.192 0.235 -0.941 0.425 T 0.001 0.005 T . . . 3.340 0.460 22.9 0.983 0.397 0.981 0.794 D c 0.420 0.192 0.343 0.196 0.487 0.133 0 3.62 0.405 7.580 0.817 0.915 0.428 1.000 0.715 0.046 0.161 12.676 0.561 Major facilitator superfamily domain . . 0.1326 0.0272 0.1118 0.1795 0.1250 0.2109 0.1557 0.1672 0.0507 0.1354 0.0327 0.1100 0.1556 0.1196 0.2187 0.1770 0.1619 het 1513.44 112 12 21331549 . T C 1513.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.757;DP=112;Dels=0.00;FS=1.676;HRun=0;HaplotypeScore=1.8561;MQ=58.29;MQ0=0;MQRankSum=1.706;QD=13.51;ReadPosRankSum=-1.047;VQSLOD=5.4500;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,60:112:99:1543,0,1256 12 21331599 21331599 T C exonic SLCO1B1 synonymous SNV SLCO1B1:NM_006446:exon6:c.T571C:p.L191L 0.37 0.14 0.5 0.24 0.61 0.45 0.5260 0.1991 0.5165 0.2497 0.5130 0.6168 0.4923 0.5240 0.49 0.22 0.62 0.38 0.67 rs4149057 COSM3753095 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Rotor_syndrome RCV000243891.1|RCV000369698.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0220991:237450:ORPHA3111:32891000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5316 0.1896 0.5249 0.6277 0.2510 0.5200 0.6201 0.5380 0.5225 0.4538 0.2051 0.5287 0.6424 0.2478 0.5014 0.5976 0.5194 het 1644.06 132 12 21331599 . T C 1644.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.101;DP=132;Dels=0.00;FS=1.387;HRun=0;HaplotypeScore=5.2975;MQ=58.84;MQ0=0;MQRankSum=-0.668;QD=12.46;ReadPosRankSum=-1.044;VQSLOD=5.0944;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,59:132:99:1674,0,1836 12 21331625 21331625 C T exonic SLCO1B1 synonymous SNV SLCO1B1:NM_006446:exon6:c.C597T:p.F199F 0.42 0.56 0.33 0.51 0.4 0.2 0.3851 0.5504 0.2493 0.5109 0.4585 0.4052 0.4251 0.1976 0.45 0.54 0.4 0.45 0.42 rs2291075 COSM3749210 1(large_intestine) Benign|Benign not_specified|Rotor_syndrome RCV000248856.1|RCV000260910.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0220991:237450:ORPHA3111:32891000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3807 0.5529 0.2640 0.4561 0.5158 0.4578 0.3982 0.4076 0.1982 0.4524 0.5550 0.2843 0.42 0.5262 0.4630 0.3967 0.3865 het 1763.53 131 12 21331625 . C T 1763.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.854;DP=131;Dels=0.00;FS=2.283;HRun=3;HaplotypeScore=1.7791;MQ=59.18;MQ0=0;MQRankSum=-0.610;QD=13.46;ReadPosRankSum=-0.781;VQSLOD=6.4870;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,68:131:99:1794,0,1548 12 21624546 21624546 C G exonic RECQL nonsynonymous SNV RECQL:NM_002907:exon13:c.G1483C:p.D495H,RECQL:NM_032941:exon14:c.G1483C:p.D495H 0.0018 . 0.0043 . 0.006 . 0.0039 0.0016 0.0065 0.0001 0.0036 0.0052 0.0044 0 0.0036 0.0011 0.0049 . 0.0082 rs6499 . . . . . . . . . . . . . 0.1 0.305 T 0.056 0.214 B 0.05 0.239 B 0.001 0.425 D 1.000 0.548 D 2.645 0.776 M 0.96 0.429 T -2.55 0.551 D 0.549 0.585 -0.919 0.456 T 0.121 0.421 T 0.013 0.315 T 5.671 0.773 26.7 0.990 0.489 0.964 0.685 D c 0.255 0.395 0.995 0.339 0.719 0.830 0 5.52 0.821 5.313 0.654 0.919 0.430 1.000 0.715 0.993 0.574 19.636 0.957 P-loop containing nucleoside triphosphate hydrolase|Winged helix-turn-helix DNA-binding domain . . 0.0039 0.0014 0.0043 0.0128 0 0.0032 0.0050 0.0064 3.256e-05 0.0030 0.0019 0.0012 0.0099 0 0.0011 0.0043 0.0020 het 933.21 68 12 21624546 . C G 933.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.772;DP=68;Dels=0.00;FS=1.004;HRun=0;HaplotypeScore=3.4279;MQ=56.52;MQ0=0;MQRankSum=0.987;QD=13.72;ReadPosRankSum=-1.637;VQSLOD=2.7062;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,34:68:99:963,0,877 12 21713402 21713402 T C exonic GYS2 nonsynonymous SNV GYS2:NM_021957:exon8:c.A1087G:p.M363V 0.74 0.64 0.76 0.76 0.77 0.81 0.7686 0.6696 0.7909 0.7505 0.8073 0.7734 0.7291 0.7919 0.74 0.68 0.78 0.73 0.77 rs2306180 COSM5001139 1(haematopoietic_and_lymphoid_tissue);2(pancreas) Benign|Benign not_specified|Hypoglycemia_with_deficiency_of_glycogen_synthetase_in_the_liver RCV000242605.1|RCV000297841.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1855861:240600:ORPHA2089 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.194 P -3.21 0.000 N 0.55 0.547 T 2.65 0.002 N 0.053 0.035 -0.928 0.444 T 0.000 0.000 T . . . 0.037 0.097 2.948 0.804 0.127 0.144 0.182 N c -1.053 -0.701 1.000 0.747 0.487 0.133 0 3.98 0.452 2.797 0.473 0.058 0.164 0.997 0.399 0.853 0.356 10.364 0.430 . ENSG00000134548.5|ENSG00000111713.2|ENSG00000134548.5|ENSG00000111713.2|ENSG00000134548.5 Cells_Transformed_fibroblasts|Pancreas|Pancreas|Thyroid|Thyroid 0.7703 0.6675 0.7888 0.6895 0.7509 0.8076 0.7775 0.7248 0.7926 0.7539 0.6754 0.7488 0.7450 0.7463 0.8033 0.7871 0.7888 hom 5180.36 162 12 21713402 . T C 5180.36 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2263;MQ=59.25;MQ0=0;QD=31.98;VQSLOD=8.6468;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5180,394,0 12 21797029 21797029 A G exonic LDHB synonymous SNV LDHB:NM_001174097:exon4:c.T261C:p.T87T,LDHB:NM_002300:exon4:c.T261C:p.T87T 0.95 0.83 0.99 1. 1. 0.99 0.9854 0.8725 0.9936 0.9995 0.9994 0.9966 0.9912 0.9922 0.95 0.87 1. 0.97 0.99 rs1650294 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9877 0.8709 0.9928 0.9744 0.9997 0.9994 0.9979 0.9912 0.9916 0.9641 0.8772 0.9940 0.9768 1 0.9994 0.9985 0.9949 hom 1341.03 43 12 21797029 . A G 1341.03 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=31.19;VQSLOD=8.6869;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1374,111,0 12 22063115 22063115 A G exonic ABCC9 synonymous SNV ABCC9:NM_005691:exon8:c.T1296C:p.P432P,ABCC9:NM_020297:exon8:c.T1296C:p.P432P 1. 0.99 1. 1. 1. 1. 0.9990 0.9899 0.9985 1 1 1.0000 0.9989 1 1. 0.99 1. 1. 1. rs10770865 . . Likely benign|Likely benign\x2cBenign|Benign|Likely benign|Likely benign|Likely benign not_specified|Dilated_cardiomyopathy_1O\x2cnot_specified|Cardiovascular_phenotype|Familial_atrial_fibrillation|Dilated_Cardiomyopathy\x2c_Dominant|Hypertrichotic_osteochondrodysplasia RCV000154427.1|RCV000474158.1\x2cRCV000038583.4|RCV000246990.1|RCV000291045.1|RCV000346009.1|RCV000386317.1 MedGen|MedGen:OMIM\x2cMedGen|MedGen|MedGen:Orphanet|MedGen|MedGen:OMIM:Orphanet CN169374|C1837839:608569\x2cCN169374|CN230736|CN204347:ORPHA334|CN239310|C0795905:239850:ORPHA1517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 0.9903 0.9993 1 1 1 1 0.9989 0.9999 0.9973 0.9905 1 1 1 1 1 1 hom 1982.84 64 12 22063115 . A G 1982.84 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8723;MQ=59.28;MQ0=0;QD=30.98;VQSLOD=8.5101;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2016,153,0 12 22354921 22354921 A G exonic ST8SIA1 synonymous SNV ST8SIA1:NM_001304450:exon4:c.T207C:p.I69I,ST8SIA1:NM_003034:exon5:c.T636C:p.I212I 0.81 0.69 0.87 0.85 0.77 0.94 0.8067 0.7321 0.8615 0.8400 0.7115 0.7828 0.8168 0.9321 0.76 0.73 0.78 0.77 0.71 rs704219 COSM5021746 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8087 0.7247 0.8587 0.8778 0.8435 0.7161 0.7771 0.8148 0.9323 0.7585 0.7333 0.8297 0.8841 0.8421 0.7007 0.7693 0.7873 het 1636.66 132 12 22354921 . A G 1636.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.444;DP=132;Dels=0.00;FS=0.675;HRun=0;HaplotypeScore=4.3380;MQ=59.40;MQ0=0;MQRankSum=0.876;QD=12.40;ReadPosRankSum=-1.200;VQSLOD=5.8365;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,68:132:99:1667,0,1575 12 22602796 22602796 A G exonic C2CD5 synonymous SNV C2CD5:NM_014802:exon25:c.T2901C:p.D967D,C2CD5:NM_001286174:exon26:c.T3054C:p.D1018D,C2CD5:NM_001286176:exon27:c.T3054C:p.D1018D,C2CD5:NM_001286177:exon27:c.T3027C:p.D1009D,C2CD5:NM_001286173:exon28:c.T3060C:p.D1020D,C2CD5:NM_001286175:exon28:c.T3063C:p.D1021D 0.67 0.81 0.74 0.14 0.89 0.73 0.7938 0.8328 0.6583 0.1366 0.8107 0.8992 0.7764 0.7759 0.88 0.83 0.9 0.72 0.93 rs2063573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7877 0.8292 0.6701 0.9085 0.1406 0.8199 0.9033 0.8037 0.7742 0.8236 0.8381 0.7649 0.9073 0.1540 0.8177 0.8912 0.8096 hom 2568.94 86 12 22602796 . A G 2568.94 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5463;MQ=57.39;MQ0=0;QD=29.87;VQSLOD=3.7167;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,85:86:99:2602,211,0 12 25148755 25148755 C G exonic C12orf77 nonsynonymous SNV C12orf77:NM_001101339:exon3:c.G393C:p.L131F 0.95 0.86 0.97 1. 0.96 0.99 0.9636 0.8723 0.9735 1 0.9637 0.9640 0.9641 0.9892 0.96 0.88 1. 0.94 . rs864161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9644 0.8686 0.9730 0.9491 1 0.9629 0.9642 0.9611 0.9892 0.9434 0.8781 0.9653 0.9536 1 0.9625 0.9674 0.9745 hom 1097.17 61 12 25148755 . C G 1097.17 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=17.99;VQSLOD=6.9522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:61:90.27:1130,90,0 12 25261735 25261735 G T exonic CASC1 nonsynonymous SNV CASC1:NM_001204101:exon13:c.C1721A:p.A574E,CASC1:NM_001082973:exon15:c.C1898A:p.A633E,CASC1:NM_001319978:exon15:c.C1778A:p.A593E,CASC1:NM_018272:exon16:c.C1916A:p.A639E,CASC1:NM_001204102:exon17:c.C1778A:p.A593E 1. 0.99 1. 1. 1. 1. 0.9995 0.9946 0.9997 1 1 1 1 1 1. 1. 1. 1. 0.92 rs859146 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.065 0.219 N 1 0.090 P -2.105 0.002 N 1.68 0.390 T 2.46 0.002 N 0.314 0.375 -0.982 0.345 T 0.000 0.000 T . . . -1.052 0.030 0.012 0.537 0.049 0.003 0.016 N c -0.989 -0.940 0.991 0.322 0.487 0.133 0 4.31 0.505 1.046 0.298 0.132 0.216 0.046 0.210 0.045 0.161 7.870 0.286 . . . 0.9996 0.9940 0.9996 1 1 1 1 0.9996 1 0.9982 0.9939 1 1 1 1 1 1 hom 627.81 21 12 25261735 . G T 627.81 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;QD=29.90;VQSLOD=8.3778;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.15:661,57,0 12 25311489 25311489 G T exonic CASC1 nonsynonymous SNV CASC1:NM_001082973:exon3:c.C97A:p.R33S,CASC1:NM_001082972:exon4:c.C289A:p.R97S,CASC1:NM_018272:exon4:c.C115A:p.R39S 0.25 0.13 0.35 0.19 0.38 0.29 0.3321 0.1571 0.3961 0.2220 0.4024 0.3592 0.2950 0.3199 0.29 0.15 0.36 0.22 0.19 rs10842496 COSM3753103;COSM3753104 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 0.000 0.810 P 2.05 0.567 M 1.99 0.449 T -3.67 0.701 D 0.302 0.362 -1.027 0.215 T 0.000 0.000 T . . . 5.228 0.706 25.6 0.994 0.648 0.881 0.476 D c 0.706 0.681 0.675 0.224 0.497 0.185 0 5.42 0.786 2.997 0.489 0.866 0.377 0.998 0.411 0.984 0.507 14.726 0.688 Cancer susceptibility candidate 1\x2c N-terminal ENSG00000205707.6|ENSG00000118307.14|ENSG00000205707.6|ENSG00000205707.6 Esophagus_Mucosa|Nerve_Tibial|Testis|Thyroid 0.3316 0.1493 0.3826 0.2308 0.2136 0.4006 0.3598 0.3349 0.3133 0.2986 0.1511 0.3840 0.2583 0.2327 0.3940 0.3622 0.3449 hom 1724.22 58 12 25311489 . G T 1724.22 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=59.60;MQ0=0;QD=29.73;VQSLOD=9.0393;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1757,135,0 12 25368462 25368462 C T exonic KRAS synonymous SNV KRAS:NM_033360:exon5:c.G483A:p.R161R 1. 0.99 1. 1. 1. 1. 0.9995 0.9949 0.9997 1 1 1 1 1 1. 1. 1. 0.99 0.95 rs4362222 . . Benign\x2cBenign|Benign not_specified\x2cnot_specified|Rasopathy RCV000150886.1\x2cRCV000039808.3|RCV000149847.3 MedGen\x2cMedGen|MedGen:Orphanet CN169374\x2cCN169374|CN166718:ORPHA98733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9945 0.9999 1 1 1 1 0.9996 1 0.9985 0.9948 1 1 1 1 1 1 hom 3291.87 102 12 25368462 . C T 3291.87 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.27;VQSLOD=13.1115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3291,259,0 12 25656706 25656706 T C exonic LMNTD1 synonymous SNV LMNTD1:NM_001145727:exon7:c.A966G:p.S322S,LMNTD1:NM_001145729:exon8:c.A1098G:p.S366S,LMNTD1:NM_152590:exon8:c.A1155G:p.S385S,LMNTD1:NM_001145728:exon9:c.A1218G:p.S406S,LMNTD1:NM_001256266:exon9:c.A864G:p.S288S 0.032 0.0023 0.048 0.002 0.079 0.043 0.0476 0.0105 0.0309 0.0015 0.0756 0.0607 0.0682 0.0425 0.045 0.012 0.062 0.011 0.0082 rs78120781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0469 0.0098 0.0298 0.0641 0.0014 0.0730 0.0582 0.0555 0.0398 0.0451 0.0111 0.0322 0.0728 0.0006 0.0777 0.0609 0.0653 het 661.88 57 12 25656706 . T C 661.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.211;DP=57;Dels=0.00;FS=1.220;HRun=0;HaplotypeScore=0.8667;MQ=57.40;MQ0=0;MQRankSum=-0.216;QD=11.61;ReadPosRankSum=0.072;VQSLOD=4.1470;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,27:57:99:692,0,796 12 25671759 25671759 T A exonic LMNTD1 nonsynonymous SNV LMNTD1:NM_001145727:exon6:c.A907T:p.T303S,LMNTD1:NM_001145729:exon7:c.A1039T:p.T347S,LMNTD1:NM_152590:exon7:c.A1096T:p.T366S,LMNTD1:NM_001145728:exon8:c.A1159T:p.T387S,LMNTD1:NM_001256266:exon8:c.A805T:p.T269S 0.71 0.53 0.72 0.88 0.79 0.71 0.7855 0.5706 0.7602 0.8631 0.6819 0.8271 0.7808 0.7717 0.74 0.58 0.83 0.75 0.89 rs1479500 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.245 0.008 N 3.08 0.176 T 0.95 0.015 N 0.027 0.089 -0.986 0.335 T 0.000 0.000 T . . . -1.310 0.022 0.004 0.846 0.149 0.012 0.042 N c -1.649 -1.628 1.000 0.747 0.487 0.133 0 -4.07 0.037 -0.287 0.084 -0.537 0.048 0.000 0.063 0.005 0.090 2.716 0.048 . . . 0.7854 0.5617 0.7606 0.8611 0.8598 0.6828 0.8294 0.7861 0.7724 0.7233 0.5614 0.7644 0.8709 0.8549 0.6883 0.8039 0.7520 hom 5935.16 215 12 25671759 . T A 5935.16 Mask AC=2;AF=1.00;AN=2;DP=215;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6217;MQ=58.60;MQ0=0;QD=27.61;VQSLOD=4.6143;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,213:215:99:5934,481,0 12 26377232 26377232 T C exonic SSPN synonymous SNV SSPN:NM_005086:exon2:c.T286C:p.L96L 0.071 0.091 0.098 0.036 0.069 0.065 0.0718 0.1023 0.0886 0.0290 0.0626 0.0712 0.0628 0.0698 0.083 0.1 0.073 0.11 0.074 rs34624361 COSM147456 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0705 0.1004 0.0842 0.0323 0.0275 0.0624 0.0740 0.0698 0.0705 0.0808 0.1005 0.0823 0.0364 0.0204 0.0659 0.0811 0.0662 het 4130.54 249 12 26377232 . T C 4130.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.875;DP=249;DS;Dels=0.00;FS=1.008;HRun=1;HaplotypeScore=5.4348;MQ=58.95;MQ0=0;MQRankSum=0.910;QD=16.59;ReadPosRankSum=0.995;VQSLOD=4.6589;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,123:249:99:3468,0,3671 12 26784850 26784850 G A exonic ITPR2 synonymous SNV ITPR2:NM_002223:exon22:c.C2883T:p.H961H 0.49 0.54 0.33 0.38 0.5 0.65 0.4856 0.5380 0.2745 0.3566 0.5280 0.4937 0.5333 0.6167 0.52 0.57 0.5 0.55 0.53 rs2230372 COSM4146967 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4771 0.5385 0.2816 0.5895 0.3581 0.5198 0.4877 0.4883 0.6188 0.4858 0.5437 0.3150 0.6133 0.3561 0.5152 0.4657 0.4959 het 3992.89 250 12 26784850 . G A 3992.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.411;DP=250;DS;Dels=0.00;FS=3.692;HRun=0;HaplotypeScore=4.6912;MQ=59.27;MQ0=0;MQRankSum=0.970;QD=15.97;ReadPosRankSum=1.047;VQSLOD=5.0722;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:116,131:250:99:3387,0,2892 12 27064232 27064232 C T exonic INTS13 synonymous SNV INTS13:NM_018164:exon15:c.G1824A:p.E608E 0.58 0.55 0.44 0.76 0.49 0.62 0.5184 0.5275 0.4177 0.7885 0.5149 0.4787 0.5474 0.6017 0.49 0.51 0.47 0.5 0.5 rs3210635 COSM4146968 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5137 0.5346 0.4263 0.4828 0.7878 0.5144 0.4735 0.5101 0.6012 0.5060 0.5291 0.4077 0.5101 0.8080 0.5230 0.4628 0.4816 het 684.73 46 12 27064232 . C T 684.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.002;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.22;MQ0=0;MQRankSum=-0.853;QD=14.89;ReadPosRankSum=-1.540;VQSLOD=6.2406;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,26:46:99:715,0,531 12 27470866 27470866 G A exonic STK38L synonymous SNV STK38L:NM_015000:exon11:c.G993A:p.T331T 0.98 0.98 0.99 1. 0.97 0.99 0.9764 0.9857 0.9830 1 0.9720 0.9703 0.9724 0.9804 0.98 0.99 0.97 0.99 0.86 rs6487601 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9770 0.9861 0.9834 0.9863 1 0.9702 0.9700 0.9759 0.9804 0.9760 0.9859 0.9761 0.9834 1 0.9699 0.9691 0.9715 het 782.95 75 12 27470866 . G A 782.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.470;DP=75;Dels=0.00;FS=10.028;HRun=0;HaplotypeScore=1.8801;MQ=59.44;MQ0=0;MQRankSum=0.038;QD=10.44;ReadPosRankSum=-0.222;VQSLOD=4.3835;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,30:75:99:813,0,1194 12 27800746 27800746 G T exonic PPFIBP1 nonsynonymous SNV PPFIBP1:NM_001198916:exon6:c.G442T:p.V148L,PPFIBP1:NM_003622:exon6:c.G442T:p.V148L,PPFIBP1:NM_177444:exon6:c.G442T:p.V148L 0.99 0.98 1. 1. 1. 1. 0.9972 0.9860 0.9975 0.9993 1 0.9980 0.9967 0.9982 0.99 0.98 1. 0.97 0.97 rs2194816 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.018 0.276 N 1.000 0.588 P -2.625 0.000 N 1.52 0.307 T 2.25 0.003 N 0.214 0.349 -0.651 0.627 T 0.000 0.000 T . . . -0.644 0.048 0.098 0.467 0.037 0.361 0.252 N c -1.916 -1.768 1.000 0.747 0.737 0.974 0 -9.06 0.006 0.145 0.159 -1.317 0.013 0.921 0.317 0.983 0.502 21.851 1.000 . . . 0.9971 0.9853 0.9970 0.9889 0.9993 1 0.9984 0.9956 0.9983 0.9948 0.9859 0.9940 0.9768 0.9994 1 0.9984 1 hom 6170.57 193 12 27800746 . G T 6170.57 Mask AC=2;AF=1.00;AN=2;DP=193;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3123;MQ=58.44;MQ0=0;QD=31.97;VQSLOD=8.7378;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:6170,490,0 12 27849796 27849796 A G exonic REP15 nonsynonymous SNV REP15:NM_001029874:exon1:c.A301G:p.N101D 0.97 0.91 0.99 1. 1. 1. 0.9917 0.9171 0.9911 1 1 0.9996 0.9912 0.9998 0.97 0.92 1. 0.26 0.93 rs929949 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.028 0.256 N 1 0.090 P -2.255 0.001 N 1.79 0.255 T 2.73 0.002 N 0.037 0.017 -0.973 0.366 T 0.000 0.000 T . . . 1.623 0.257 13.98 0.769 0.113 0.016 0.052 N c -1.164 -0.950 1.000 0.446 0.554 0.283 0 3.0 0.336 2.016 0.404 0.125 0.212 0.665 0.281 0.963 0.446 9.710 0.392 . . . 0.9935 0.9158 0.9937 1 0.9999 1 0.9995 0.9912 0.9998 0.9787 0.9265 0.9868 1 1 1 0.9997 0.9949 hom 3724.33 121 12 27849796 . A G 3724.33 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7406;MQ=59.00;MQ0=0;QD=30.78;VQSLOD=8.4375;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3724,313,0 12 27850113 27850113 A T exonic REP15 nonsynonymous SNV REP15:NM_001029874:exon1:c.A618T:p.E206D 0.09 0.0068 0.099 0.051 0.17 0.15 0.1391 0.0299 0.0811 0.0287 0.1715 0.1773 0.1322 0.1392 0.13 0.038 0.18 0.054 0.19 rs12819160 COSM3753140 1(large_intestine) . . . . . . . . . . . 0.528 0.071 T 0.0 0.026 B 0.003 0.080 B 0.211 0.163 N 1 0.090 P 1.48 0.373 L 1.44 0.327 T -0.4 0.138 N 0.026 0.008 -1.007 0.278 T 0.000 0.000 T . . . 0.172 0.110 4.380 0.938 0.232 0.093 0.149 N c -0.962 -0.950 1.000 0.747 0.563 0.310 0 1.3 0.207 -0.191 0.095 0.166 0.246 0.001 0.137 0.329 0.242 1.172 0.017 . ENSG00000205693.3 Testis 0.1396 0.0274 0.0843 0.1694 0.0270 0.1779 0.1798 0.1345 0.1370 0.1268 0.0321 0.1029 0.2152 0.0160 0.1789 0.1804 0.1437 het 1712.84 120 12 27850113 . A T 1712.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.281;DP=120;Dels=0.00;FS=0.700;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;MQRankSum=1.402;QD=14.27;ReadPosRankSum=-0.440;VQSLOD=6.0269;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,68:120:99:1743,0,1276 12 27867727 27867727 G A exonic MRPS35 nonsynonymous SNV MRPS35:NM_001190864:exon2:c.G127A:p.G43R,MRPS35:NM_021821:exon2:c.G127A:p.G43R 0.12 0.0068 0.1 0.19 0.17 0.15 0.1385 0.0277 0.0808 0.1723 0.1444 0.1594 0.1305 0.1442 0.12 0.034 0.16 0.054 0.16 rs1127787 COSM3753141 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.619 0.061 T 0.0 0.026 B 0.0 0.013 B 0.052 0.229 N 1 0.090 P -2.045 0.002 N 1.0 0.418 T 1.5 0.007 N 0.27 0.328 -1.010 0.270 T 0.000 0.000 T . . . -0.136 0.081 1.479 0.749 0.105 0.001 0.004 N c -1.474 -1.359 0.822 0.245 0.732 0.924 0 1.99 0.253 1.173 0.313 0.208 0.253 0.008 0.178 0.001 0.043 4.407 0.108 . ENSG00000230519.2|ENSG00000205693.3 Colon_Transverse|Testis 0.1376 0.0253 0.0830 0.1507 0.1689 0.1491 0.1611 0.1323 0.1394 0.1224 0.0307 0.0983 0.1788 0.1863 0.1516 0.1616 0.1339 het 980.73 160 12 27867727 . G A 980.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.500;DP=160;Dels=0.00;FS=4.136;HRun=0;HaplotypeScore=0.0000;MQ=59.73;MQ0=0;MQRankSum=-1.174;QD=6.13;ReadPosRankSum=-0.650;VQSLOD=4.0199;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:114,46:160:99:1011,0,2772 12 28412372 28412372 G A exonic CCDC91 nonsynonymous SNV CCDC91:NM_001330367:exon3:c.G106A:p.A36T,CCDC91:NM_018318:exon3:c.G106A:p.A36T 0.12 0.018 0.12 0.043 0.3 0.18 0.2240 0.0544 0.1125 0.0386 0.2962 0.2949 0.2412 0.1894 0.22 0.055 0.31 0.11 0.23 rs11049488 COSM3753162 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.003 0.080 B 0.004 0.341 N 0.995 0.233 P -0.11 0.046 N 1.56 0.301 T 1.78 0.032 N 0.024 0.259 -0.966 0.379 T 0.000 0.000 T . . . 1.076 0.197 11.08 0.417 0.030 0.047 0.103 N c -1.021 -0.861 0.073 0.156 0.706 0.609 0 -0.515 0.113 -0.277 0.085 -0.538 0.048 0.052 0.213 0.712 0.312 1.351 0.020 . ENSG00000247934.3|ENSG00000247934.3|ENSG00000123106.6|ENSG00000247934.3|ENSG00000123106.6|ENSG00000123106.6 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.2243 0.0511 0.1184 0.2260 0.0390 0.3055 0.2994 0.2446 0.1928 0.2072 0.0553 0.1227 0.2053 0.04 0.3181 0.2925 0.2384 het 489 45 12 28412372 . G A 489 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.312;DP=45;Dels=0.00;FS=1.192;HRun=0;HaplotypeScore=0.8321;MQ=58.97;MQ0=0;MQRankSum=2.446;QD=10.87;ReadPosRankSum=-1.354;VQSLOD=5.5169;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:519,0,708 12 29423460 29423460 G A exonic FAR2 synonymous SNV FAR2:NM_001271783:exon2:c.G78A:p.L26L,FAR2:NM_018099:exon2:c.G78A:p.L26L 0.43 0.64 0.28 0.41 0.35 0.35 0.3643 0.5991 0.2374 0.3762 0.3512 0.3635 0.3557 0.3075 0.45 0.6 0.38 0.53 0.4 rs2216854 COSM147460 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3544 0.6051 0.2436 0.3290 0.3633 0.3491 0.3705 0.3336 0.3025 0.4328 0.5784 0.2768 0.3576 0.3560 0.3493 0.3895 0.3809 het 1313.52 77 12 29423460 . G A 1313.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DP=77;Dels=0.00;FS=3.227;HRun=1;HaplotypeScore=1.7262;MQ=59.40;MQ0=0;MQRankSum=0.123;QD=17.06;ReadPosRankSum=-0.998;VQSLOD=5.8233;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,50:77:99:1344,0,754 12 29630081 29630081 G A exonic OVCH1 nonsynonymous SNV OVCH1:NM_183378:exon12:c.C1331T:p.T444I 0.82 0.64 0.9 0.91 0.86 0.86 0.8528 0.6490 0.9312 0.9222 0.8159 0.8570 0.8670 0.8800 0.79 0.65 0.86 0.72 . rs7975356 . . . . . . . . . . . . . 0.42 0.098 T . . . . . . . . . 1 0.090 P . . . 0.19 0.603 T 0.08 0.060 N 0.007 0.000 -1.003 0.291 T 0.000 0.000 T . . . -0.991 0.032 0.017 0.368 0.024 0.001 0.006 N c -1.064 -1.237 0.003 0.096 0.554 0.246 0 0.208 0.144 -0.604 0.057 0.093 0.196 0.000 0.063 0.000 0.016 2.836 0.051 CUB domain ENSG00000257176.1|ENSG00000257176.1|ENSG00000257176.1|ENSG00000257176.1 Adipose_Subcutaneous|Lung|Muscle_Skeletal|Thyroid 0.8552 0.6346 0.9231 0.8424 0.9243 0.8101 0.8572 0.8606 0.8808 0.7972 0.65 0.9019 0.8079 0.9207 0.8049 0.8585 0.8395 hom 1465.32 49 12 29630081 . G A 1465.32 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.53;MQ0=0;QD=29.90;VQSLOD=8.8708;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1498,120,0 12 29736480 29736480 A G exonic TMTC1 synonymous SNV TMTC1:NM_001193451:exon8:c.T1278C:p.H426H,TMTC1:NM_175861:exon8:c.T954C:p.H318H 0.37 0.52 0.31 0.46 0.24 0.25 0.2887 0.4792 0.2698 0.4605 0.2810 0.2536 0.2634 0.2376 0.31 0.46 0.24 0.41 0.2 rs2113879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2780 0.4802 0.2698 0.2196 0.4461 0.2760 0.2453 0.2579 0.2348 0.3316 0.4768 0.2864 0.2219 0.4267 0.2828 0.2566 0.2781 het 515.94 45 12 29736480 . A G 515.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.331;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.674;QD=11.47;ReadPosRankSum=0.194;VQSLOD=11.9338;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,20:45:99:546,0,719 12 31135478 31135478 T C exonic TSPAN11 synonymous SNV TSPAN11:NM_001080509:exon6:c.T468C:p.C156C 0.95 0.94 0.95 0.97 0.95 0.95 0.9573 0.9445 0.9730 0.9595 0.9927 0.9570 0.9457 0.9407 0.95 0.94 0.96 0.94 0.9 rs35089 COSM431013 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9580 0.9459 0.9699 0.9393 0.9580 0.9923 0.9566 0.9466 0.9391 0.9591 0.9450 0.9582 0.9570 0.9519 0.9937 0.9597 0.9643 hom 3162.65 113 12 31135478 . T C 3162.65 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.43;MQ0=0;QD=27.99;VQSLOD=8.4352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3196,253,0 12 31135579 31135579 T C exonic TSPAN11 nonsynonymous SNV TSPAN11:NM_001080509:exon6:c.T569C:p.V190A 0.71 0.64 0.75 0.72 0.7 0.76 0.7180 0.6677 0.8126 0.7096 0.7232 0.6971 0.7310 0.7624 0.66 0.63 0.68 0.74 0.44 rs2075333 COSM431014 1(thyroid) . . . . . . . . . . . 0.908 0.028 T 0.0 0.026 B 0.002 0.063 B 0.581 0.111 N 1 0.090 P -0.905 0.013 N -1.04 0.766 T 1.28 0.010 N 0.039 0.129 -0.965 0.381 T 0.000 0.000 T . . . -2.010 0.008 0.001 0.237 0.010 0.004 0.021 N c -1.799 -1.778 0.787 0.239 0.646 0.450 0 -1.76 0.075 -0.664 0.054 -1.541 0.010 0.000 0.063 0.233 0.224 3.949 0.088 Tetraspanin\x2c EC2 domain . . 0.7041 0.6463 0.7902 0.6235 0.6928 0.7076 0.6814 0.6781 0.7509 0.6899 0.6487 0.7476 0.6467 0.6958 0.7123 0.7034 0.7239 het 310.96 28 12 31135579 . T C 310.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.284;DP=28;Dels=0.00;FS=4.630;HRun=0;HaplotypeScore=0.9734;MQ=60.00;MQ0=0;MQRankSum=-0.599;QD=11.11;ReadPosRankSum=-1.290;VQSLOD=5.3751;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,15:28:99:341,0,378 12 31604928 31604928 G C exonic DENND5B synonymous SNV DENND5B:NM_144973:exon5:c.C1575G:p.A525A,DENND5B:NM_001308339:exon7:c.C1680G:p.A560A 0.18 0.22 0.11 0.25 0.12 0.14 0.1383 0.2075 0.1070 0.2571 0.1927 0.1111 0.1459 0.1446 0.14 0.2 0.11 0.22 . rs3205175 COSM4415163;COSM4415164;COSM4415162 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1369 0.2074 0.1035 0.0967 0.2526 0.1946 0.1100 0.1271 0.1443 0.1616 0.2112 0.1146 0.0993 0.2674 0.1940 0.1180 0.1589 het 955.89 82 12 31604928 . G C 955.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.306;DP=82;Dels=0.00;FS=5.022;HRun=0;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;MQRankSum=1.172;QD=11.66;ReadPosRankSum=0.384;VQSLOD=5.6838;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,35:82:99:986,0,1377 12 31605044 31605044 G T exonic DENND5B nonsynonymous SNV DENND5B:NM_144973:exon5:c.C1459A:p.H487N,DENND5B:NM_001308339:exon7:c.C1564A:p.H522N 0.18 0.23 0.11 0.25 0.12 0.14 0.1386 0.2106 0.1072 0.2571 0.1934 0.1111 0.1459 0.1445 0.13 0.2 0.1 0.22 . rs1056320 COSM3753173;COSM3753172;COSM3753171 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.406 0.109 T 0.001 0.126 B 0.001 0.195 B 0.022 0.266 N 0.999 0.223 P 0 0.065 N 1.05 0.400 T 0.98 0.031 N 0.012 0.083 -1.030 0.203 T 0.000 0.000 T . . . 1.282 0.219 12.17 0.932 0.223 0.973 0.738 D c -0.174 0.030 1.000 0.431 0.707 0.730 0 4.67 0.579 6.274 0.724 1.048 0.713 1.000 0.715 0.998 0.697 13.191 0.590 dDENN domain . . 0.1373 0.2112 0.1041 0.0967 0.2532 0.1947 0.1101 0.1278 0.1441 0.1629 0.2151 0.1158 0.0993 0.2699 0.1939 0.1180 0.1585 het 2619.12 214 12 31605044 . G T 2619.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.566;DP=214;Dels=0.00;FS=1.760;HRun=1;HaplotypeScore=5.6107;MQ=59.21;MQ0=0;MQRankSum=-0.416;QD=12.24;ReadPosRankSum=-0.873;VQSLOD=5.1159;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,96:214:99:2649,0,3446 12 32134240 32134240 C T exonic KIAA1551 synonymous SNV KIAA1551:NM_018169:exon4:c.C351T:p.N117N 0.73 0.71 0.76 0.78 0.69 0.7 0.7174 0.7043 0.7375 0.8002 0.7654 0.7025 0.7406 0.7077 0.7 0.71 0.69 0.72 0.67 rs2388982 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7137 0.6990 0.7334 0.6520 0.7966 0.7534 0.6969 0.7038 0.7063 0.7052 0.6983 0.7392 0.6060 0.7775 0.7484 0.6914 0.7057 het 910.29 66 12 32134240 . C T 910.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.265;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=0.738;QD=13.79;ReadPosRankSum=-0.455;VQSLOD=7.0516;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,34:66:99:940,0,831 12 32134638 32134638 T C exonic KIAA1551 nonsynonymous SNV KIAA1551:NM_018169:exon4:c.T749C:p.L250P 0.84 0.91 0.82 0.82 0.79 0.84 0.8123 0.8817 0.7838 0.8320 0.8220 0.7951 0.8260 0.8434 0.82 0.88 0.78 0.89 0.79 rs2166807 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.386 0.133 N 1 0.090 P -1.545 0.005 N 4.06 0.056 T 6.93 0.000 N 0.043 0.480 -1.022 0.230 T 0.000 0.000 T . . . -0.507 0.055 0.211 0.049 0.000 0.009 0.034 N c -1.063 -0.938 0.973 0.294 0.672 0.522 0 4.69 0.584 1.004 0.292 0.069 0.176 0.011 0.184 0.008 0.104 8.221 0.305 . . . 0.8055 0.8812 0.7791 0.7989 0.8274 0.8138 0.7885 0.7977 0.8433 0.8122 0.8791 0.7943 0.7417 0.8127 0.8044 0.7787 0.7933 het 1582.12 109 12 32134638 . T C 1582.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.852;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6658;MQ=58.14;MQ0=0;MQRankSum=0.306;QD=14.51;ReadPosRankSum=0.887;VQSLOD=5.4320;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,60:109:99:1612,0,1290 12 32135441 32135441 T C exonic KIAA1551 nonsynonymous SNV KIAA1551:NM_018169:exon4:c.T1552C:p.S518P 0.95 1. 0.96 0.88 0.94 0.93 0.9442 0.9910 0.9747 0.8921 0.9582 0.9402 0.9437 0.9309 0.96 0.99 0.94 0.96 0.91 rs3759301 . . . . . . . . . . . . . 0.49 0.080 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 3.99 0.060 T 0.21 0.078 N 0.017 0.451 -1.037 0.183 T 0.000 0.000 T . . . 0.266 0.120 5.360 0.881 0.172 0.004 0.019 N c -1.194 -1.164 0.866 0.253 0.707 0.730 0 2.88 0.325 -0.503 0.064 -0.484 0.053 0.000 0.063 0.000 0.016 4.431 0.109 . . . 0.9443 0.9910 0.9717 0.9215 0.8900 0.9577 0.9413 0.9429 0.9304 0.9539 0.9871 0.9642 0.8709 0.8875 0.9562 0.9429 0.9450 hom 1665.44 51 12 32135441 . T C 1665.44 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.56;MQ0=0;QD=32.66;VQSLOD=8.8908;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1698,132,0 12 38715000 38715000 A G exonic ALG10B synonymous SNV ALG10B:NM_001013620:exon3:c.A1407G:p.Q469Q 0.25 0.14 0.29 0.14 0.45 0.29 0.3629 0.1703 0.1971 0.1513 0.3959 0.4598 0.3869 0.3023 0.35 0.16 0.45 0.22 0.44 rs35518352 COSM1361301 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3579 0.1642 0.2136 0.4505 0.1564 0.3946 0.4587 0.3872 0.2991 0.3505 0.1694 0.2816 0.4767 0.1683 0.3898 0.4639 0.4133 het 2749.85 203 12 38715000 . A G 2749.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.164;DP=203;DS;Dels=0.00;FS=6.418;HRun=0;HaplotypeScore=3.8172;MQ=58.35;MQ0=0;MQRankSum=-1.373;QD=13.55;ReadPosRankSum=0.673;VQSLOD=3.5255;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:102,101:203:99:2780,0,2747 12 39087609 39087609 G A exonic CPNE8 synonymous SNV CPNE8:NM_153634:exon15:c.C993T:p.Y331Y 0.26 0.048 0.3 0.23 0.45 0.36 0.3697 0.0955 0.2048 0.2262 0.3991 0.4556 0.3918 0.3733 0.33 0.1 0.45 0.21 0.43 rs3759139 COSM147470 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3671 0.0921 0.2231 0.4397 0.2281 0.4011 0.4542 0.3907 0.3691 0.3332 0.1024 0.2746 0.4603 0.2188 0.3944 0.4609 0.4175 het 1038.44 68 12 39087609 . G A 1038.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.605;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.98;MQ0=0;MQRankSum=-0.148;QD=15.27;ReadPosRankSum=-1.601;VQSLOD=6.3850;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,37:68:99:1068,0,864 12 39695445 39695445 G A exonic KIF21A synonymous SNV KIF21A:NM_001173463:exon33:c.C4657T:p.L1553L,KIF21A:NM_001173465:exon33:c.C4609T:p.L1537L,KIF21A:NM_017641:exon36:c.C4729T:p.L1577L,KIF21A:NM_001173464:exon37:c.C4768T:p.L1590L 0.081 0.022 0.12 0.13 0.07 0.096 0.0649 0.0242 0.0960 0.1235 0.0355 0.0563 0.0683 0.0844 0.043 0.027 0.051 0.087 0.033 rs2271477 COSM3998772;COSM3998771 2(haematopoietic_and_lymphoid_tissue) Benign Congenital_fibrosis_of_the_extraocular_muscles RCV000383091.1 MedGen CN043677 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0677 0.0225 0.0919 0.1381 0.1293 0.0351 0.0517 0.0808 0.0857 0.0477 0.0281 0.0990 0.1192 0.1199 0.0355 0.0488 0.0633 het 2339.03 173 12 39695445 . G A 2339.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.830;DP=173;DS;Dels=0.00;FS=6.377;HRun=1;HaplotypeScore=2.8240;MQ=58.75;MQ0=0;MQRankSum=0.996;QD=13.52;ReadPosRankSum=0.114;VQSLOD=4.9128;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,81:173:99:2369,0,2551 12 39713776 39713776 C A exonic KIF21A nonsynonymous SNV KIF21A:NM_001173463:exon26:c.G3651T:p.E1217D,KIF21A:NM_001173465:exon26:c.G3603T:p.E1201D,KIF21A:NM_017641:exon27:c.G3672T:p.E1224D,KIF21A:NM_001173464:exon28:c.G3711T:p.E1237D 0.055 0.0053 0.029 0.12 0.06 0.074 0.0653 0.0101 0.0241 0.1437 0.0318 0.0745 0.0623 0.0667 0.045 0.0095 0.063 0.054 0.033 rs75223821 . . Benign Congenital_fibrosis_of_the_extraocular_muscles RCV000351593.1 MedGen CN043677 . . . . . . 0.3 0.145 T 0.99 0.670 D 0.98 0.759 D 0.000 0.537 D 0.266 0.337 P 0.895 0.225 L -0.44 0.701 T -0.48 0.154 N 0.241 0.523 -1.042 0.165 T 0.004 0.012 T . . . 2.499 0.362 19.46 0.983 0.391 0.891 0.491 D c -0.061 -0.012 0.004 0.104 0.706 0.609 0 1.43 0.215 0.571 0.232 0.935 0.490 1.000 0.715 0.997 0.653 8.279 0.309 . . . 0.0537 0.0096 0.0253 0.0357 0.1294 0.0280 0.0617 0.0475 0.0604 0.0434 0.0113 0.0179 0.0430 0.1309 0.0281 0.0571 0.0519 het 576.78 39 12 39713776 . C A 576.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.738;DP=39;Dels=0.00;FS=1.342;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.592;QD=14.79;ReadPosRankSum=0.736;VQSLOD=6.0745;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,24:39:99:607,0,386 12 39726179 39726179 T C exonic KIF21A nonsynonymous SNV KIF21A:NM_001173465:exon19:c.A2780G:p.K927R,KIF21A:NM_001173463:exon20:c.A2849G:p.K950R,KIF21A:NM_017641:exon20:c.A2849G:p.K950R,KIF21A:NM_001173464:exon21:c.A2888G:p.K963R . . . . . . 3.297e-05 0 0 0 0 5.999e-05 0 0 0.0002 . 0.0002 . . rs370441394 . . . . . . . . . . . . . 0.099 0.306 T 0.003 0.604 B 0.006 0.529 B 0.001 0.400 N 0.931 0.392 D 1.955 0.530 M -0.5 0.705 T -1.04 0.295 N 0.334 0.395 -0.723 0.593 T 0.221 0.584 T 0.014 0.335 T 1.350 0.226 12.53 0.995 0.691 0.921 0.546 D c 0.211 0.278 0.019 0.132 0.707 0.730 0 4.53 0.548 3.919 0.559 1.061 0.807 1.000 0.715 1.000 0.888 11.332 0.485 . . . 3.261e-05 0 0 0 0 0 7.22e-05 0 0 9.691e-05 0 0 0 0 0 0.0002 0 het 3906.40 249 12 39726179 . T C 3906.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.042;DP=249;DS;Dels=0.00;FS=7.305;HRun=0;HaplotypeScore=4.0815;MQ=58.83;MQ0=0;MQRankSum=0.219;QD=15.69;ReadPosRankSum=-0.536;VQSLOD=3.0418;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:126,123:249:99:3316,0,3181 12 40085906 40085906 A T exonic C12orf40 nonsynonymous SNV C12orf40:NM_001031748:exon11:c.A1403T:p.K468M,C12orf40:NM_001319247:exon11:c.A1403T:p.K468M 0.13 0.066 0.098 0.18 0.16 0.16 0.1665 0.0906 0.0944 0.2100 0.0732 0.1952 0.1567 0.1720 0.14 0.078 0.16 0.098 0.09 rs73270414 COSM1579797 1(central_nervous_system) . . . . . . . . . . . 0.084 0.348 T 0.018 0.165 B 0.031 0.206 B 0.846 0.090 N 1.000 0.090 P 1.545 0.392 L 0.63 0.531 T -2.36 0.556 N 0.121 0.135 -1.054 0.134 T 0.000 0.001 T . . . 2.084 0.311 16.75 0.960 0.277 0.148 0.184 N c -0.899 -0.918 0.000 0.012 0.487 0.133 0 1.66 0.230 0.298 0.187 0.977 0.596 0.043 0.209 0.565 0.282 5.995 0.186 . . . 0.1322 0.0741 0.0820 0.1886 0.1738 0.0608 0.1554 0.1314 0.1437 0.1177 0.0798 0.1100 0.2053 0.1787 0.0709 0.1427 0.1191 het 239.43 24 12 40085906 . A T 239.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.876;DP=24;Dels=0.00;FS=4.310;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.664;QD=9.98;ReadPosRankSum=-0.144;VQSLOD=5.7780;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:269,0,348 12 40619082 40619082 G A exonic LRRK2 nonsynonymous SNV LRRK2:NM_198578:exon1:c.G149A:p.R50H 0.97 0.89 0.99 1. 1. 1. 0.9911 0.8999 0.9978 1 1 0.9999 0.9967 0.9998 0.97 0.9 1. 0.91 0.98 rs2256408 . . Uncertain significance Parkinson_disease_8\x2c_autosomal_dominant RCV000032408.1 MedGen:OMIM C1846862:607060 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.491 0.121 N 1 0.090 P -0.255 0.038 N 0.7 0.515 T 0.63 0.024 N 0.182 0.230 -0.974 0.364 T 0.000 0.000 T . . . 1.601 0.254 13.86 0.821 0.135 0.004 0.018 N c -1.288 -1.186 1.000 0.747 0.437 0.062 0 -1.31 0.087 0.216 0.172 -0.587 0.045 0.060 0.216 0.559 0.281 6.763 0.226 Armadillo-type fold . . 0.9931 0.8977 0.9969 1 1 1 0.9998 0.9971 0.9999 0.9708 0.8981 0.9916 1 1 1 0.9999 0.9939 hom 1099.22 34 12 40619082 . G A 1099.22 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.33;VQSLOD=14.1674;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:93.28:1132,93,0 12 40688695 40688695 T C exonic LRRK2 synonymous SNV LRRK2:NM_198578:exon22:c.T2857C:p.L953L 0.09 0.016 0.13 0.15 0.13 0.065 0.1060 0.0233 0.0843 0.1871 0.0826 0.1249 0.1040 0.0625 0.095 0.024 0.13 0.065 0.16 rs7966550 COSM147474;COSM147475 1(stomach) other Parkinson_disease_8\x2c_autosomal_dominant RCV000032430.2 MedGen:OMIM C1846862:607060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1042 0.0213 0.0829 0.1135 0.1830 0.0817 0.1241 0.1203 0.0622 0.0907 0.0277 0.1002 0.0795 0.1694 0.0900 0.1186 0.0951 hom 1540.61 57 12 40688695 . T C 1540.61 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4942;MQ=58.68;MQ0=0;QD=27.03;VQSLOD=7.5361;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1574,117,0 12 41337435 41337435 C T exonic CNTN1 synonymous SNV CNTN1:NM_175038:exon11:c.C1383T:p.N461N,CNTN1:NM_001256063:exon13:c.C1416T:p.N472N,CNTN1:NM_001256064:exon13:c.C1416T:p.N472N,CNTN1:NM_001843:exon13:c.C1416T:p.N472N 0.57 0.59 0.66 0.44 0.66 0.54 0.6193 0.5887 0.6890 0.4613 0.6925 0.6446 0.6128 0.5408 0.62 0.59 0.64 0.61 0.66 rs1056019 COSM3753220;COSM431076 1(large_intestine) Benign not_specified RCV000116765.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6217 0.5866 0.6912 0.6634 0.4611 0.6831 0.6369 0.6461 0.5366 0.6292 0.5880 0.6734 0.7020 0.4931 0.6765 0.6501 0.6711 het 1020.26 96 12 41337435 . C T 1020.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.244;DP=96;Dels=0.00;FS=1.703;HRun=0;HaplotypeScore=2.5721;MQ=58.33;MQ0=0;MQRankSum=-1.985;QD=10.63;ReadPosRankSum=0.422;VQSLOD=4.4931;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,41:96:99:1050,0,1450 12 41946539 41946539 G A exonic PDZRN4 nonsynonymous SNV PDZRN4:NM_013377:exon4:c.G511A:p.G171S,PDZRN4:NM_001164595:exon6:c.G1285A:p.G429S 0.17 0.26 0.12 0.11 0.16 0.15 0.1650 0.2426 0.0765 0.0928 0.1847 0.1723 0.1865 0.1769 0.19 0.24 0.16 0.17 0.14 rs285584 COSM5654231;COSM5654232;COSM5654233 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.103 0.586 T 0.999 0.764 D 0.955 0.679 D 0.000 0.843 D 0.000 0.588 P 1.6 0.409 L 0.44 0.566 T -4.32 0.772 D 0.285 0.696 -1.192 0.002 T 0.000 0.000 T . . . 7.472 0.952 34 0.999 0.975 0.913 0.530 D c 0.724 0.707 1.000 0.747 0.487 0.133 0 5.04 0.672 6.717 0.743 0.953 0.551 1.000 0.715 0.996 0.625 19.268 0.940 PDZ domain . . 0.1584 0.2447 0.0769 0.1770 0.0936 0.1848 0.1686 0.1665 0.1771 0.1788 0.2296 0.0955 0.1887 0.0884 0.1808 0.1638 0.1663 het 1246.75 98 12 41946539 . G A 1246.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.821;DP=98;Dels=0.00;FS=8.232;HRun=0;HaplotypeScore=0.9995;MQ=58.33;MQ0=0;MQRankSum=-0.014;QD=12.72;ReadPosRankSum=0.372;VQSLOD=5.0092;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,43:98:99:1277,0,1379 12 41966699 41966699 A G exonic PDZRN4 synonymous SNV PDZRN4:NM_013377:exon8:c.A1344G:p.G448G,PDZRN4:NM_001164595:exon10:c.A2118G:p.G706G 0.028 0.038 0.0086 0.059 0.014 0.011 0.0159 0.0441 0.0064 0.0471 0.0024 0.0120 0.0088 0.0098 0.024 0.043 0.014 0.043 0.0082 rs78683283 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0153 0.0454 0.0067 0.0234 0.0505 0.0018 0.0117 0.0139 0.0107 0.0217 0.0469 0.0084 0.0265 0.05 0.0017 0.0103 0.0071 het 2621.91 181 12 41966699 . A G 2621.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.017;DP=181;Dels=0.00;FS=3.492;HRun=2;HaplotypeScore=8.4421;MQ=58.77;MQ0=0;MQRankSum=1.974;QD=14.49;ReadPosRankSum=-0.287;VQSLOD=3.4690;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,96:181:99:2652,0,2150 12 42854205 42854205 A G exonic PRICKLE1 synonymous SNV PRICKLE1:NM_001144881:exon8:c.T1902C:p.S634S,PRICKLE1:NM_001144882:exon8:c.T1902C:p.S634S,PRICKLE1:NM_001144883:exon8:c.T1902C:p.S634S,PRICKLE1:NM_153026:exon8:c.T1902C:p.S634S 0.43 0.47 0.48 0.41 0.43 0.35 0.4385 0.4651 0.5028 0.4177 0.4205 0.4549 0.4108 0.3297 0.44 0.46 0.42 0.48 0.39 rs3747562 COSM4418952 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Progressive_myoclonus_epilepsy_with_ataxia RCV000082658.7|RCV000274867.1 MedGen|MedGen:OMIM CN169374|C2676254:612437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4390 0.4686 0.4933 0.4457 0.4207 0.4212 0.4528 0.4539 0.3336 0.4552 0.4609 0.4689 0.4073 0.4338 0.4291 0.4633 0.4110 hom 3863.36 129 12 42854205 . A G 3863.36 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.007;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=59.10;MQ0=0;MQRankSum=-0.577;QD=29.95;ReadPosRankSum=-1.625;VQSLOD=8.8625;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,128:129:99:3825,293,0 12 42854208 42854208 A G exonic PRICKLE1 synonymous SNV PRICKLE1:NM_001144881:exon8:c.T1899C:p.F633F,PRICKLE1:NM_001144882:exon8:c.T1899C:p.F633F,PRICKLE1:NM_001144883:exon8:c.T1899C:p.F633F,PRICKLE1:NM_153026:exon8:c.T1899C:p.F633F 0.27 0.16 0.38 0.26 0.37 0.25 0.3459 0.1963 0.4169 0.2718 0.3834 0.3860 0.3260 0.2533 0.3 0.2 0.35 0.23 0.3 rs3747563 COSM4418199 1(breast);1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Progressive_myoclonus_epilepsy_with_ataxia RCV000118050.3|RCV000318118.1 MedGen|MedGen:OMIM CN169374|C2676254:612437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3503 0.1983 0.4058 0.3801 0.2703 0.3862 0.3817 0.3713 0.2568 0.3308 0.2048 0.3720 0.3113 0.2640 0.3948 0.3932 0.3533 hom 4219.49 129 12 42854208 . A G 4219.49 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.980;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.10;MQ0=0;MQRankSum=1.571;QD=32.71;ReadPosRankSum=-1.302;VQSLOD=8.4681;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,128:129:99:4184,296,0 12 43860526 43860526 A G exonic ADAMTS20 synonymous SNV ADAMTS20:NM_025003:exon9:c.T1296C:p.P432P 0.43 0.24 0.32 0.76 0.35 0.52 0.3771 0.2556 0.3356 0.7561 0.3133 0.3345 0.3797 0.4813 0.31 0.26 0.34 0.28 . rs11182088 COSM5654235;COSM5654234;COSM5654236 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3758 0.2590 0.3329 0.3744 0.7623 0.3050 0.3292 0.3788 0.4845 0.3147 0.2520 0.3377 0.3940 0.7447 0.3080 0.3025 0.3289 het 876.59 69 12 43860526 . A G 876.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.476;DP=69;Dels=0.00;FS=0.899;HRun=4;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=-0.068;QD=12.70;ReadPosRankSum=2.267;VQSLOD=5.7703;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,36:69:99:907,0,766 12 46321514 46321514 A T exonic SCAF11 nonsynonymous SNV SCAF11:NM_004719:exon11:c.T1970A:p.F657Y 0.39 0.11 0.37 0.54 0.5 0.51 0.4578 0.1559 0.4121 0.5492 0.5144 0.4791 0.4625 0.5172 0.39 0.17 0.5 0.39 0.46 rs7315731 COSM3753232 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.055 0.410 T 0.531 0.393 P 0.145 0.402 B 0.843 0.090 N 1 0.090 P 1.7 0.440 L 2.09 0.346 T -0.39 0.174 N 0.048 0.127 -0.915 0.463 T 0.000 0.000 T . . . -0.242 0.073 0.892 0.953 0.260 0.121 0.169 N c -0.589 -0.684 0.108 0.166 0.707 0.730 0 1.74 0.235 0.006 0.129 0.237 0.263 0.000 0.063 0.032 0.149 7.440 0.262 . . . 0.4634 0.1447 0.4127 0.5174 0.5474 0.5118 0.4809 0.4658 0.5152 0.3976 0.1585 0.4065 0.4470 0.5774 0.5112 0.4873 0.4286 hom 2080.21 70 12 46321514 . A T 2080.21 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=29.72;VQSLOD=8.4900;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,69:70:99:2113,172,0 12 47168898 47168898 G A exonic SLC38A4 synonymous SNV SLC38A4:NM_001143824:exon13:c.C1233T:p.P411P,SLC38A4:NM_018018:exon14:c.C1233T:p.P411P 1. 0.99 1. 1. 1. 1. 0.9992 0.9919 0.9991 1 1 1.0000 1 1 1. 0.99 1. 1. 1. rs180414 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 0.9922 0.9993 1 1 1 1.0000 0.9996 1 0.9977 0.9918 1 1 1 1 1 1 hom 4064.46 128 12 47168898 . G A 4064.46 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.26;MQ0=1;QD=31.75;VQSLOD=8.8990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4064,316,0 12 47471439 47471439 G A exonic AMIGO2 synonymous SNV AMIGO2:NM_181847:exon2:c.C1347T:p.P449P,AMIGO2:NM_001143668:exon3:c.C1347T:p.P449P 0.22 0.13 0.29 0.12 0.32 0.29 0.2770 0.1628 0.2246 0.0847 0.2980 0.3197 0.3095 0.3036 0.27 0.17 0.32 0.22 0.34 rs2269828 COSM3753243 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2771 0.1581 0.2250 0.2754 0.0816 0.3134 0.3238 0.3062 0.3022 0.2634 0.1653 0.2488 0.2567 0.0783 0.3231 0.3236 0.3245 het 1360.09 131 12 47471439 . G A 1360.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.178;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=59.43;MQ0=0;MQRankSum=1.632;QD=10.38;ReadPosRankSum=-0.911;VQSLOD=6.2632;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,58:131:99:1390,0,1757 12 48137441 48137441 C T exonic RAPGEF3 nonsynonymous SNV RAPGEF3:NM_001098532:exon17:c.G1571A:p.R524Q,RAPGEF3:NM_001098531:exon18:c.G1697A:p.R566Q,RAPGEF3:NM_006105:exon18:c.G1571A:p.R524Q . . . . . . 0.0002 9.722e-05 8.705e-05 0 0 0.0003 0 0 0.0002 . 0.0003 . . rs202109036 . . . . . . . . . . . . . 0.432 0.117 T 0.766 0.418 P 0.238 0.368 B 0.000 0.537 D 1 0.810 D 2.255 0.644 M -0.28 0.676 T -0.97 0.258 N 0.27 0.358 -0.897 0.484 T 0.177 0.522 T 0.049 0.636 D 4.144 0.556 23.8 0.974 0.334 0.889 0.488 D c -0.345 -0.283 1.000 0.747 0.615 0.372 0 3.42 0.381 2.717 0.467 0.072 0.180 0.976 0.346 0.862 0.360 15.097 0.718 Ras guanine nucleotide exchange factor domain;Ubiquitin-related domain . . 0.0001 0.0002 5.967e-05 0 0 0 0.0003 0 0 0.0002 0.0001 0 0 0 0 0.0003 0 het 831.36 63 12 48137441 . C T 831.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.317;DP=63;Dels=0.00;FS=3.665;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.430;QD=13.20;ReadPosRankSum=1.148;VQSLOD=4.5670;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,32:63:99:861,0,747 12 48142636 48142636 C T exonic RAPGEF3 nonsynonymous SNV RAPGEF3:NM_001098532:exon10:c.G994A:p.G332S,RAPGEF3:NM_001098531:exon11:c.G1120A:p.G374S,RAPGEF3:NM_006105:exon11:c.G994A:p.G332S 0.09 0.1 0.14 0.03 0.15 0.051 0.1172 0.1086 0.0742 0.0350 0.1349 0.1485 0.1446 0.0609 0.13 0.11 0.15 0.12 0.12 rs12422983 COSM3998813;COSM3998812;COSM3998814 1(haematopoietic_and_lymphoid_tissue);7(soft_tissue);1(thyroid) . . . . . . . . . . . 0.076 0.410 T 0.627 0.637 P 0.034 0.526 B 0.698 0.062 N 1.000 0.186 P 1.245 0.315 L -0.26 0.697 T -1.42 0.350 N 0.07 0.234 -1.061 0.115 T 0.002 0.006 T . . . 1.775 0.274 14.84 0.973 0.326 0.018 0.055 N c -0.481 -0.578 1.000 0.405 0.706 0.609 0 3.3 0.368 0.711 0.253 0.935 0.490 0.001 0.137 0.058 0.169 5.771 0.174 Cyclic nucleotide-binding domain|Cyclic nucleotide-binding-like|RmlC-like jelly roll fold;Ras guanine nucleotide exchange factor domain ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11|ENSG00000079337.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Stomach|Thyroid 0.1193 0.1061 0.0806 0.2176 0.0359 0.1424 0.1463 0.1515 0.0633 0.1292 0.1124 0.1038 0.2053 0.0346 0.1276 0.1500 0.1222 het 2008.41 164 12 48142636 . C T 2008.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.692;DP=164;Dels=0.00;FS=1.262;HRun=0;HaplotypeScore=8.4084;MQ=58.86;MQ0=0;MQRankSum=0.575;QD=12.25;ReadPosRankSum=-0.012;VQSLOD=4.5343;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,80:164:99:2038,0,1999 12 48151822 48151822 C G exonic RAPGEF3 nonsynonymous SNV RAPGEF3:NM_001098531:exon2:c.G46C:p.A16P 0.3 0.3 0.27 0.2 0.34 0.37 0.4054 0.3469 0.3623 0.3173 0.5273 0.4274 0.4139 0.4067 0.29 0.27 0.3 0.35 0.16 rs11168230 COSM4147068;COSM4147069 1(thyroid) . . . . . . . . . . . 0.217 0.191 T 0.0 0.090 B 0.0 0.093 B . . . 0.996 0.524 P 0.895 0.225 L 0.02 0.623 T -0.72 0.204 N 0.095 0.449 -1.010 0.268 T 0.000 0.000 T . . . 3.775 0.511 23.4 0.992 0.538 0.192 0.204 N c -0.616 -0.506 1.000 0.473 0.206 0.033 2 1.99 0.253 0.375 0.201 0.892 0.403 0.001 0.137 0.921 0.396 4.294 0.103 . ENSG00000079337.11|ENSG00000079337.11 Esophagus_Mucosa|Whole_Blood 0.3022 0.2732 0.1922 0.3975 0.2016 0.3853 0.3099 0.3410 0.3729 0.3030 0.2902 0.2218 0.3775 0.1791 0.3757 0.3092 0.3129 het 98.87 12 12 48151822 . C G 98.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.380;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.05;MQ0=0;MQRankSum=1.635;QD=8.24;ReadPosRankSum=1.635;VQSLOD=4.7597;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,5:12:99:129,0,229 12 48272895 48272895 A G exonic VDR startloss VDR:NM_000376:exon3:c.T2C:p.E2_M4del,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001017535:exon4:c.T2C:p.E2_M4del 0.67 0.81 0.52 0.58 0.62 0.74 0.6376 0.7880 0.5203 0.5448 0.6403 0.6138 0.6512 0.7671 0.67 0.79 0.61 0.73 0.66 rs2228570 COSM3753248 1(large_intestine) Benign Vitamin_D-Dependent_Rickets RCV000280730.1 MedGen C0221468 . . . . . . 0.0 0.912 D 0.289 0.637 B 0.275 0.588 B 0.000 0.559 D 0.990 0.810 P . . . -3.24 0.939 D 0.36 0.095 N 0.179 0.367 -0.925 0.449 T 0.000 0.000 T . . . 3.384 0.465 23.0 0.990 0.504 0.919 0.542 D c 0.246 0.278 0.999 0.389 0.706 0.609 0 2.89 0.326 4.354 0.590 1.199 0.960 1.000 0.715 1.000 0.888 9.950 0.406 Zinc finger\x2c NHR/GATA-type|Zinc finger\x2c nuclear hormone receptor-type . . 0.6295 0.7875 0.5251 0.5657 0.5432 0.6347 0.6190 0.6324 0.7675 0.6483 0.7832 0.5442 0.58 0.5377 0.6472 0.5920 0.6055 hom 2400.15 79 12 48272895 . A G 2400.15 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.53;MQ0=0;QD=30.38;VQSLOD=8.7987;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2433,190,0 12 48358203 48358203 A G exonic TMEM106C nonsynonymous SNV TMEM106C:NM_001143841:exon2:c.A184G:p.T62A,TMEM106C:NM_001143842:exon2:c.A184G:p.T62A,TMEM106C:NM_001143843:exon2:c.A184G:p.T62A,TMEM106C:NM_024056:exon2:c.A184G:p.T62A 0.015 0.0015 0.022 . 0.044 0.012 0.0224 0.0039 0.0134 0.0001 0.0438 0.0281 0.0175 0.0209 0.018 0.0034 0.026 . 0.016 rs35299693 . . . . . . . . . . . . . 0.152 0.246 T 0.001 0.067 B 0.002 0.063 B 0.001 0.398 N 0.931 0.280 N 1.245 0.315 L 2.03 0.210 T -0.58 0.314 N 0.036 0.153 -1.037 0.183 T 0.006 0.022 T . . . 1.531 0.246 13.48 0.973 0.325 0.534 0.291 D c -0.596 -0.484 1.000 0.747 0.726 0.872 0 1.93 0.249 2.130 0.414 1.006 0.624 0.962 0.335 0.978 0.483 7.662 0.274 . . . 0.0218 0.0036 0.0141 0.0223 5.8e-05 0.0373 0.0274 0.0227 0.0194 0.0231 0.0053 0.0179 0.0033 0.0006 0.0364 0.0325 0.0389 het 746.30 53 12 48358203 . A G 746.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.688;DP=53;Dels=0.00;FS=2.897;HRun=0;HaplotypeScore=3.7353;MQ=60.00;MQ0=0;MQRankSum=-0.906;QD=14.08;ReadPosRankSum=0.727;VQSLOD=5.1165;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,30:53:99:776,0,616 12 48375568 48375568 A G exonic COL2A1 synonymous SNV COL2A1:NM_033150:exon35:c.T2193C:p.N731N,COL2A1:NM_001844:exon36:c.T2400C:p.N800N 0.48 0.49 0.37 0.55 0.46 0.51 0.4896 0.4751 0.4083 0.5703 0.5642 0.4798 0.4864 0.5035 0.45 0.45 0.46 0.54 0.082 rs1635553 COSM1606168;COSM1606169 2(liver);1(thyroid) Benign|Likely benign|Likely benign not_specified|Stickler_Syndrome\x2c_Dominant|Type_II_Collagenopathies RCV000079724.7|RCV000316658.1|RCV000371359.1 MedGen|MedGen|MedGen CN169374|CN239460|CN043672 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4408 0.4613 0.2780 0.4010 0.5923 0.4122 0.4703 0.4542 0.4908 0.4612 0.4612 0.3230 0.4338 0.6179 0.3937 0.4698 0.4395 het 108.37 12 12 48375568 . A G 108.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.143;DP=12;Dels=0.00;FS=2.632;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=1.031;QD=9.03;ReadPosRankSum=0.825;VQSLOD=4.9873;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,7:12:99:138,0,128 12 48376291 48376291 G A exonic COL2A1 synonymous SNV COL2A1:NM_033150:exon33:c.C2088T:p.G696G,COL2A1:NM_001844:exon34:c.C2295T:p.G765G 0.43 0.36 0.35 0.56 0.39 0.49 0.3958 0.3450 0.2368 0.5968 0.3504 0.3889 0.4230 0.4778 0.39 0.35 0.41 0.45 0.16 rs2276454 . . Benign|Likely benign|Likely benign not_specified|Type_II_Collagenopathies|Stickler_Syndrome\x2c_Dominant RCV000249196.2|RCV000292068.1|RCV000385327.1 MedGen|MedGen|MedGen CN169374|CN043672|CN239460 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3894 0.3450 0.2447 0.3877 0.5962 0.3385 0.3945 0.3982 0.4707 0.3773 0.3455 0.3007 0.4272 0.6190 0.3174 0.3877 0.3668 het 1495.19 92 12 48376291 . G A 1495.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.494;DP=92;Dels=0.00;FS=3.077;HRun=0;HaplotypeScore=6.4621;MQ=58.17;MQ0=0;MQRankSum=0.190;QD=16.25;ReadPosRankSum=-0.164;VQSLOD=4.4776;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:29,61:92:99:1525,0,708 12 48526659 48526659 G A exonic PFKM synonymous SNV PFKM:NM_001166688:exon4:c.G246A:p.T82T,PFKM:NM_000289:exon5:c.G246A:p.T82T,PFKM:NM_001166687:exon5:c.G246A:p.T82T,PFKM:NM_001166686:exon7:c.G459A:p.T153T 0.027 0.014 0.035 . 0.084 0.01 0.0769 0.0277 0.0390 0.0002 0.1116 0.1106 0.0716 0.0208 0.065 0.026 0.084 0.043 0.066 rs2228501 . . Benign|Likely benign not_specified|Glycogen_storage_disease\x2c_type_VII RCV000253516.2|RCV000283573.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0017926:232800:ORPHA371:89597008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0574 0.0195 0.0286 0.0148 0.0004 0.0823 0.0905 0.0608 0.0157 0.0692 0.0271 0.0346 0.0265 0.0006 0.0859 0.1001 0.0692 het 537.79 41 12 48526659 . G A 537.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.273;DP=41;Dels=0.00;FS=1.618;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=1.239;QD=13.12;ReadPosRankSum=-0.196;VQSLOD=5.8526;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:568,0,518 12 48538908 48538908 G A exonic PFKM nonsynonymous SNV PFKM:NM_001166688:exon20:c.G2087A:p.R696H,PFKM:NM_000289:exon21:c.G2087A:p.R696H,PFKM:NM_001166687:exon21:c.G2087A:p.R696H,PFKM:NM_001166686:exon23:c.G2300A:p.R767H 0.0038 0.0008 0.0014 . 0.015 0.002 0.0097 0.0023 0.0058 0.0016 0.0089 0.0145 0.0066 0.0023 0.012 0.0039 0.016 0.011 . rs41291971 . . Likely benign not_specified RCV000251357.2 MedGen CN169374 . . . . . . 0.061 0.384 T 0.995 0.657 D 0.944 0.663 D 0.000 0.843 D 1 0.810 D 2.55 0.747 M -1.45 0.811 T -2.18 0.491 N 0.769 0.762 -0.053 0.812 T 0.454 0.787 T . . . 6.389 0.882 29.6 0.999 0.999 0.993 0.945 D c 0.614 0.644 1.000 0.747 0.707 0.730 0 5.05 0.674 9.940 0.989 1.048 0.713 1.000 0.715 0.998 0.697 18.590 0.911 Phosphofructokinase domain;Phosphofructokinase domain|Phosphofructokinase\x2c conserved site . . 0.0097 0.0026 0.0060 0.0050 0.0016 0.0073 0.0161 0.0089 0.0022 0.0118 0.0026 0.0107 0.0099 0.0037 0.0080 0.0193 0.0071 het 1453.91 116 12 48538908 . G A 1453.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.521;DP=116;Dels=0.00;FS=1.510;HRun=0;HaplotypeScore=3.5996;MQ=59.60;MQ0=0;MQRankSum=-2.217;QD=12.53;ReadPosRankSum=-0.216;VQSLOD=4.5959;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,52:116:99:1484,0,1667 12 48539482 48539482 T G exonic PFKM synonymous SNV PFKM:NM_001166688:exon22:c.T2334G:p.A778A,PFKM:NM_000289:exon23:c.T2334G:p.A778A,PFKM:NM_001166687:exon23:c.T2334G:p.A778A,PFKM:NM_001166686:exon25:c.T2547G:p.A849A 0.2 0.11 0.21 0.014 0.39 0.34 0.3204 0.1220 0.2223 0.0097 0.3544 0.3925 0.3179 0.3725 0.29 0.13 0.38 0.15 0.42 rs8716 COSM3753261;COSM3753260 1(large_intestine) Benign|Benign not_specified|Glycogen_storage_disease\x2c_type_VII RCV000248761.2|RCV000266125.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0017926:232800:ORPHA371:89597008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3178 0.1206 0.2382 0.3454 0.0112 0.3493 0.3913 0.3258 0.3747 0.2826 0.1234 0.2662 0.3444 0.0093 0.3618 0.3809 0.3630 het 820.19 85 12 48539482 . T G 820.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.354;DP=85;Dels=0.00;FS=0.869;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.894;QD=9.65;ReadPosRankSum=-0.040;VQSLOD=6.2019;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,36:85:99:850,0,1331 12 48543584 48543584 G C exonic ASB8 synonymous SNV ASB8:NM_001319297:exon4:c.C432G:p.V144V,ASB8:NM_024095:exon4:c.C432G:p.V144V,ASB8:NM_001319296:exon5:c.C432G:p.V144V,ASB8:NM_001319298:exon5:c.C249G:p.V83V,ASB8:NM_001319299:exon5:c.C249G:p.V83V 0.027 0.014 0.035 . 0.084 0.0092 0.0579 0.0218 0.0238 0.0001 0.0806 0.0848 0.0540 0.0168 0.065 0.026 0.084 0.043 0.066 rs3936179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0577 0.0201 0.0284 0.0152 0.0002 0.0825 0.0908 0.0602 0.0157 0.0693 0.0272 0.0346 0.0265 0.0006 0.0859 0.1002 0.0692 het 834.24 93 12 48543584 . G C 834.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.420;DP=93;Dels=0.00;FS=4.203;HRun=0;HaplotypeScore=1.7552;MQ=59.35;MQ0=0;MQRankSum=0.352;QD=8.97;ReadPosRankSum=-0.101;VQSLOD=5.3521;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,34:93:99:864,0,1631 12 48596254 48596254 A C exonic OR10AD1 synonymous SNV OR10AD1:NM_001004134:exon1:c.T822G:p.P274P 0.042 0.059 0.036 0.006 0.092 0.01 0.0670 0.0587 0.0256 0.0023 0.1068 0.0911 0.0740 0.0217 0.08 0.062 0.089 0.065 0.074 rs11830378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0668 0.0573 0.0304 0.0488 0.0026 0.1091 0.0946 0.0728 0.0206 0.0839 0.0582 0.0430 0.0563 0.0025 0.1110 0.1044 0.0820 het 1470.58 101 12 48596254 . A C 1470.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.769;DP=101;Dels=0.00;FS=5.868;HRun=0;HaplotypeScore=2.6801;MQ=58.94;MQ0=0;MQRankSum=-0.402;QD=14.56;ReadPosRankSum=-0.237;VQSLOD=5.2512;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,58:101:99:1501,0,1294 12 48596484 48596484 A T exonic OR10AD1 nonsynonymous SNV OR10AD1:NM_001004134:exon1:c.T592A:p.W198R 0.043 0.059 0.036 0.006 0.092 0.011 0.0670 0.0588 0.0257 0.0023 0.1069 0.0910 0.0740 0.0218 0.08 0.062 0.089 0.065 0.074 rs75413005 . . . . . . . . . . . . . 0.142 0.254 T 0.0 0.026 B 0.0 0.013 B 0.491 0.050 N 1 0.090 N -0.135 0.045 N 8.79 0.001 T 0.44 0.033 N 0.027 0.009 -1.047 0.153 T 0.000 0.000 T . . . -0.686 0.046 0.078 0.555 0.052 0.012 0.043 N c -1.262 -1.203 0.030 0.139 0.497 0.185 0 2.31 0.277 0.012 0.131 0.113 0.207 0.000 0.063 0.001 0.043 2.601 0.045 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000152556.11|ENSG00000167528.8|ENSG00000167528.8|ENSG00000269514.1|ENSG00000167528.8|ENSG00000167528.8 Brain_Cerebellum|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.0668 0.0574 0.0304 0.0488 0.0026 0.1090 0.0946 0.0728 0.0207 0.0838 0.0579 0.0430 0.0563 0.0025 0.1106 0.1043 0.0835 het 724.66 52 12 48596484 . A T 724.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.716;DP=52;Dels=0.00;FS=1.192;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=-0.229;QD=13.94;ReadPosRankSum=1.716;VQSLOD=5.3820;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,28:52:99:755,0,690 12 48596546 48596546 C T exonic OR10AD1 nonsynonymous SNV OR10AD1:NM_001004134:exon1:c.G530A:p.S177N 0.043 0.059 0.036 0.006 0.092 0.011 0.0667 0.0588 0.0254 0.0024 0.1067 0.0904 0.0737 0.0218 0.08 0.062 0.089 0.065 0.074 rs75531856 . . . . . . . . . . . . . 0.192 0.210 T 0.0 0.026 B 0.0 0.013 B 0.001 0.425 N 1.000 0.191 N -0.125 0.045 N 8.68 0.001 T 2.44 0.003 N 0.016 0.003 -0.994 0.315 T 0.000 0.000 T . . . 1.213 0.211 11.82 0.966 0.298 0.121 0.169 N c -0.745 -0.573 0.386 0.200 0.516 0.203 0 3.69 0.413 2.579 0.455 0.141 0.225 0.989 0.365 0.995 0.604 7.865 0.285 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000152556.11|ENSG00000167528.8|ENSG00000167528.8|ENSG00000269514.1|ENSG00000167528.8|ENSG00000167528.8 Brain_Cerebellum|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.0665 0.0571 0.0303 0.0485 0.0026 0.1090 0.0941 0.0726 0.0206 0.0838 0.0574 0.0430 0.0563 0.0025 0.1108 0.1044 0.0835 het 407.89 44 12 48596546 . C T 407.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.449;DP=44;Dels=0.00;FS=4.581;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.062;QD=9.27;ReadPosRankSum=-0.131;VQSLOD=5.4559;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,18:44:99:438,0,714 12 48596579 48596579 C T exonic OR10AD1 nonsynonymous SNV OR10AD1:NM_001004134:exon1:c.G497A:p.R166Q 0.025 0.0076 0.032 . 0.082 0.0092 0.0564 0.0163 0.0221 0.0004 0.0808 0.0833 0.0552 0.0164 0.062 0.02 0.083 0.043 0.057 rs17224674 . . . . . . . . . . . . . 0.243 0.175 T 0.068 0.222 B 0.009 0.133 B 0.342 0.139 N 1 0.090 N 0.09 0.084 N 8.67 0.001 T -1.02 0.268 N 0.032 0.014 -1.139 0.014 T 0.000 0.000 T . . . 0.020 0.095 2.779 0.943 0.241 0.057 0.115 N c -1.194 -1.186 0.018 0.130 0.497 0.185 0 0.729 0.173 -4.164 0.003 0.920 0.431 0.000 0.063 0.001 0.043 3.359 0.067 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000152556.11|ENSG00000167528.8|ENSG00000167528.8|ENSG00000167528.8|ENSG00000269514.1|ENSG00000167528.8|ENSG00000167528.8 Brain_Cerebellum|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.0562 0.0148 0.0264 0.0153 0.0011 0.0822 0.0889 0.0592 0.0154 0.0655 0.0183 0.0310 0.0265 0.0012 0.0839 0.0981 0.0684 het 731.99 53 12 48596579 . C T 731.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.628;DP=53;Dels=0.00;FS=2.461;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.276;QD=13.81;ReadPosRankSum=0.383;VQSLOD=6.5845;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,28:53:99:762,0,628 12 48596641 48596641 A G exonic OR10AD1 synonymous SNV OR10AD1:NM_001004134:exon1:c.T435C:p.L145L 0.025 0.0076 0.032 . 0.082 0.0092 0.0565 0.0163 0.0224 0.0001 0.0808 0.0835 0.0544 0.0164 0.062 0.02 0.083 0.043 0.066 rs75539159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0562 0.0149 0.0264 0.0154 0.0002 0.0824 0.0890 0.0593 0.0154 0.0655 0.0183 0.0310 0.0265 0.0006 0.0841 0.0981 0.0684 het 1113.84 76 12 48596641 . A G 1113.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.470;DP=76;Dels=0.00;FS=2.003;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.728;QD=14.66;ReadPosRankSum=-0.696;VQSLOD=5.9995;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,46:76:99:1144,0,779 12 48596890 48596890 G A exonic OR10AD1 synonymous SNV OR10AD1:NM_001004134:exon1:c.C186T:p.F62F 0.043 0.059 0.036 0.006 0.092 0.011 0.0669 0.0590 0.0260 0.0023 0.1064 0.0907 0.0748 0.0218 0.08 0.062 0.089 0.065 0.074 rs17823193 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0667 0.0573 0.0304 0.0488 0.0026 0.1090 0.0943 0.0727 0.0207 0.0841 0.0582 0.0430 0.0563 0.0025 0.1111 0.1046 0.0835 het 670.32 61 12 48596890 . G A 670.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.642;DP=61;Dels=0.00;FS=12.247;HRun=2;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=0.155;QD=10.99;ReadPosRankSum=0.229;VQSLOD=4.5144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,24:61:99:700,0,1119 12 48597064 48597064 A G exonic OR10AD1 synonymous SNV OR10AD1:NM_001004134:exon1:c.T12C:p.N4N 0.042 0.059 0.036 0.006 0.091 0.011 0.0690 0.0620 0.0257 0.0023 0.1066 0.0932 0.0765 0.0238 0.079 0.061 0.088 0.065 0.074 rs17224828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0665 0.0576 0.0304 0.0491 0.0026 0.1085 0.0946 0.0729 0.0206 0.0841 0.0579 0.0430 0.0563 0.0025 0.1108 0.1048 0.0835 het 574.49 56 12 48597064 . A G 574.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.266;DP=56;Dels=0.00;FS=2.824;HRun=0;HaplotypeScore=2.9928;MQ=58.58;MQ0=0;MQRankSum=1.282;QD=10.26;ReadPosRankSum=-0.283;VQSLOD=5.9015;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,23:56:99:604,0,885 12 48736985 48736985 T G exonic ZNF641 nonsynonymous SNV ZNF641:NM_001172682:exon5:c.A1019C:p.Q340P,ZNF641:NM_001172681:exon6:c.A1046C:p.Q349P,ZNF641:NM_152320:exon7:c.A1088C:p.Q363P 0.17 0.019 0.19 0.011 0.33 0.36 0.2812 0.0553 0.2099 0.0074 0.2895 0.3390 0.2731 0.3806 0.24 0.062 0.34 0.11 0.34 rs2732481 COSM3753264;COSM3753263 1(large_intestine) . . . . . . . . . . . 0.027 0.546 D 0.396 0.329 B 0.133 0.315 B 0.005 0.335 N 1.000 0.090 P 2.335 0.672 M 3.3 0.074 T -1.91 0.539 N 0.219 0.304 -0.919 0.457 T 0.000 0.000 T . . . 2.850 0.403 21.6 0.988 0.456 0.454 0.273 N c -0.078 -0.050 0.963 0.286 0.615 0.372 0 3.04 0.340 0.628 0.240 1.061 0.807 0.277 0.249 0.510 0.273 3.695 0.078 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000187166.1|ENSG00000187166.1|ENSG00000187166.1|ENSG00000187166.1|ENSG00000177627.5|ENSG00000187166.1|ENSG00000187166.1|ENSG00000167528.8|ENSG00000187166.1|ENSG00000240399.1|ENSG00000187166.1|ENSG00000167528.8|ENSG00000240399.1|ENSG00000187166.1|ENSG00000187166.1|ENSG00000187166.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2803 0.0509 0.2176 0.3303 0.0091 0.2845 0.3394 0.2878 0.3802 0.2382 0.0568 0.2416 0.3212 0.0056 0.3086 0.3457 0.3173 het 1688.93 148 12 48736985 . T G 1688.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.415;DP=148;Dels=0.00;FS=6.202;HRun=1;HaplotypeScore=2.8552;MQ=59.38;MQ0=0;MQRankSum=-0.431;QD=11.41;ReadPosRankSum=0.677;VQSLOD=5.1509;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,66:148:99:1719,0,2322 12 48737245 48737245 A C exonic ZNF641 synonymous SNV ZNF641:NM_001172682:exon5:c.T759G:p.G253G,ZNF641:NM_001172681:exon6:c.T786G:p.G262G,ZNF641:NM_152320:exon7:c.T828G:p.G276G 0.17 0.019 0.19 0.011 0.33 0.36 0.2813 0.0554 0.2099 0.0074 0.2896 0.3392 0.2731 0.3806 0.24 0.062 0.34 0.11 0.34 rs2732484 COSM3753265;COSM3753266 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2804 0.0510 0.2177 0.3301 0.0091 0.2844 0.3396 0.2878 0.3802 0.2383 0.0565 0.2398 0.3212 0.0055 0.3090 0.3465 0.3173 het 1685.90 135 12 48737245 . A C 1685.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.411;DP=135;Dels=0.00;FS=3.731;HRun=4;HaplotypeScore=3.6680;MQ=58.71;MQ0=0;MQRankSum=0.664;QD=12.49;ReadPosRankSum=-0.681;VQSLOD=5.6852;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,63:135:99:1716,0,1835 12 48888594 48888594 C T exonic C12orf54 nonsynonymous SNV C12orf54:NM_152319:exon8:c.C256T:p.P86S 0.23 0.037 0.26 0.15 0.44 0.32 0.3718 0.0871 0.2640 0.1449 0.4466 0.4608 0.3921 0.3548 0.34 0.1 0.46 0.24 0.47 rs11458 COSM3753267 1(large_intestine) . . . . . . . . . . . 0.468 0.085 T 0.06 0.217 B 0.028 0.201 B 0.246 0.156 N 1 0.090 P 0.695 0.181 N 0.09 0.615 T -1.56 0.377 N 0.024 0.141 -0.913 0.465 T 0.000 0.000 T . . . 2.144 0.319 17.14 0.949 0.251 0.139 0.179 N c -0.897 -0.849 0.000 0.055 0.615 0.372 0 1.73 0.235 0.028 0.134 0.838 0.341 0.716 0.285 0.037 0.154 6.309 0.202 . ENSG00000177627.5 Esophagus_Mucosa 0.3710 0.0798 0.2685 0.4176 0.1434 0.4338 0.4633 0.3939 0.3554 0.3323 0.0994 0.2823 0.4172 0.1183 0.4413 0.4599 0.4366 het 2473.06 176 12 48888594 . C T 2473.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.487;DP=176;Dels=0.00;FS=2.038;HRun=1;HaplotypeScore=2.7280;MQ=59.17;MQ0=0;MQRankSum=1.375;QD=14.05;ReadPosRankSum=-0.522;VQSLOD=6.4045;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,93:176:99:2503,0,2285 12 48888689 48888689 C G exonic C12orf54 synonymous SNV C12orf54:NM_152319:exon8:c.C351G:p.L117L 0.32 0.12 0.37 0.18 0.64 0.35 0.5012 0.1936 0.3458 0.1647 0.5504 0.6422 0.5154 0.3901 0.51 0.22 0.66 0.34 0.7 rs9268 COSM3753268 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5005 0.1852 0.3593 0.5727 0.1615 0.5413 0.6519 0.5425 0.3922 0.4722 0.1974 0.3971 0.5530 0.1344 0.5484 0.6475 0.5591 hom 7411.47 232 12 48888689 . C G 7411.47 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.866;DP=232;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6828;MQ=59.40;MQ0=0;MQRankSum=-1.060;QD=31.95;ReadPosRankSum=-1.000;VQSLOD=8.7757;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,231:232:99:7372,532,0 12 48919556 48919556 A G exonic OR8S1 nonsynonymous SNV OR8S1:NM_001005203:exon1:c.A142G:p.M48V 0.92 0.91 0.93 0.97 0.88 0.93 0.9101 0.8943 0.9459 0.9668 0.8904 0.8967 0.8998 0.9274 0.9 0.89 0.9 0.89 0.92 rs2731073 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.370 N 1 0.090 P -2.73 0.000 N 4.13 0.029 T 2.13 0.004 N 0.046 0.026 -0.984 0.341 T 0.000 0.000 T . . . -1.741 0.012 0.002 0.347 0.021 0.010 0.038 N c -1.386 -1.214 0.000 0.053 0.497 0.185 0 1.7 0.232 -1.305 0.028 -0.276 0.085 0.000 0.063 0.051 0.165 1.462 0.022 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000240399.1 Artery_Tibial 0.9109 0.8948 0.9417 0.9009 0.9660 0.8903 0.8956 0.9021 0.9298 0.9011 0.8914 0.9308 0.8974 0.9686 0.8925 0.8995 0.9080 hom 5562.33 191 12 48919556 . A G 5562.33 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5131;MQ=59.46;MQ0=0;QD=29.12;VQSLOD=7.6952;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5561,445,0 12 48919659 48919659 T C exonic OR8S1 nonsynonymous SNV OR8S1:NM_001005203:exon1:c.T245C:p.L82P 0.58 0.48 0.66 0.69 0.51 0.6 0.5744 0.4928 0.7450 0.7257 0.6225 0.5309 0.5617 0.5844 0.52 0.5 0.53 0.33 0.52 rs4075258 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.992 0.790 D 0.006 0.323 N 0.000 0.548 P 3.775 0.953 H 7.41 0.004 T -6.77 0.928 D 0.485 0.533 -1.097 0.044 T 0.000 0.000 T . . . 5.619 0.765 26.6 0.999 0.952 0.832 0.420 D c 0.653 0.482 0.993 0.331 0.556 0.300 0 5.03 0.669 5.887 0.693 1.061 0.807 0.993 0.376 0.608 0.290 12.762 0.566 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000177627.5|ENSG00000177627.5 Esophagus_Mucosa|Testis 0.5799 0.4884 0.7241 0.4668 0.7262 0.6141 0.5302 0.5502 0.5830 0.5497 0.5005 0.6435 0.4868 0.7229 0.6200 0.5357 0.6047 het 1875.67 142 12 48919659 . T C 1875.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.949;DP=142;Dels=0.00;FS=5.056;HRun=1;HaplotypeScore=1.8737;MQ=60.00;MQ0=0;MQRankSum=0.467;QD=13.21;ReadPosRankSum=-0.913;VQSLOD=5.7598;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,65:142:99:1906,0,2169 12 48919660 48919660 G A exonic OR8S1 synonymous SNV OR8S1:NM_001005203:exon1:c.G246A:p.L82L 0.23 0.037 0.26 0.15 0.44 0.32 0.3710 0.0867 0.2635 0.1448 0.4459 0.4600 0.3910 0.3535 0.34 0.1 0.46 . 0.48 rs35367885 COSM3753269 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3703 0.0788 0.2682 0.4165 0.1435 0.4340 0.4627 0.3925 0.3541 0.3284 0.0952 0.2812 0.4172 0.1160 0.4401 0.4559 0.4333 het 1891.12 140 12 48919660 . G A 1891.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.520;DP=140;Dels=0.00;FS=5.079;HRun=0;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=-0.744;QD=13.51;ReadPosRankSum=-1.356;VQSLOD=4.8040;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,66:140:99:1921,0,2077 12 48919796 48919796 C T exonic OR8S1 nonsynonymous SNV OR8S1:NM_001005203:exon1:c.C382T:p.R128C 0.58 0.49 0.66 0.69 0.51 0.6 0.5746 0.4928 0.7452 0.7244 0.6232 0.5313 0.5617 0.5845 0.52 0.5 0.53 0.56 0.52 rs12425460 . . . . . . . . . . . . . 0.016 0.518 D 0.003 0.102 B 0.003 0.080 B 0.013 0.290 N 0.603 0.309 P 1.39 0.351 L 4.99 0.014 T -2.4 0.527 N 0.117 0.129 -1.059 0.120 T 0.000 0.000 T . . . 3.646 0.495 23.2 0.985 0.423 0.153 0.187 N c -0.633 -0.535 0.000 0.065 0.581 0.326 0 3.07 0.343 -1.368 0.027 -0.343 0.071 0.000 0.063 0.064 0.173 8.056 0.296 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000177627.5|ENSG00000177627.5 Esophagus_Mucosa|Testis 0.5801 0.4886 0.7241 0.4669 0.7248 0.6144 0.5308 0.5507 0.5831 0.5517 0.5002 0.6444 0.4868 0.7239 0.6206 0.5393 0.6094 het 2595.62 189 12 48919796 . C T 2595.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.530;DP=189;Dels=0.00;FS=0.540;HRun=0;HaplotypeScore=2.6494;MQ=59.25;MQ0=0;MQRankSum=0.216;QD=13.73;ReadPosRankSum=-1.067;VQSLOD=6.5190;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,98:189:99:2626,0,2440 12 48920073 48920073 G A exonic OR8S1 nonsynonymous SNV OR8S1:NM_001005203:exon1:c.G659A:p.R220H 0.069 0.011 0.11 0.029 0.2 0.028 0.1232 0.0333 0.0790 0.0198 0.1033 0.1820 0.1244 0.0352 0.14 0.042 0.2 0.076 0.19 rs61941963 COSM4998038 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.507 0.076 T 0.052 0.210 B 0.052 0.241 B 0.725 0.099 N 1 0.090 P 0.395 0.123 N 8.72 0.001 T -1.84 0.431 N 0.077 0.068 -1.047 0.153 T 0.000 0.000 T . . . 0.246 0.118 5.156 0.303 0.016 0.014 0.048 N c -0.999 -1.050 0.000 0.029 0.487 0.133 0 -0.583 0.111 -2.047 0.015 -0.236 0.093 0.000 0.063 0.000 0.016 0.179 0.001 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1251 0.0340 0.0881 0.1644 0.0181 0.1069 0.1887 0.1491 0.0367 0.1222 0.0370 0.1160 0.1490 0.0142 0.1062 0.1875 0.1173 het 1935.30 126 12 48920073 . G A 1935.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.525;DP=126;Dels=0.00;FS=0.671;HRun=0;HaplotypeScore=0.9159;MQ=59.63;MQ0=0;MQRankSum=0.733;QD=15.36;ReadPosRankSum=-0.205;VQSLOD=6.2847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,67:126:99:1965,0,1522 12 49065727 49065727 T C exonic KANSL2 synonymous SNV KANSL2:NM_017822:exon5:c.A564G:p.T188T 0.18 0.27 0.14 0.004 0.31 0.16 0.2717 0.2919 0.1324 0.0012 0.2495 0.3450 0.2937 0.2093 0.33 0.29 0.35 0.17 . rs7303113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2652 0.2942 0.1394 0.3235 0.0020 0.2461 0.3492 0.2783 0.2125 0.2973 0.2848 0.1814 0.3 0.0031 0.2527 0.3558 0.2582 het 1006.15 88 12 49065727 . T C 1006.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.621;DP=88;Dels=0.00;FS=1.390;HRun=1;HaplotypeScore=1.8110;MQ=59.48;MQ0=0;MQRankSum=-0.017;QD=11.43;ReadPosRankSum=-1.732;VQSLOD=6.3386;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,41:88:99:1036,0,1359 12 49086963 49086963 G A exonic CCNT1 synonymous SNV CCNT1:NM_001240:exon9:c.C2034T:p.P678P 0.59 0.45 0.57 0.78 0.57 0.64 0.6152 0.4608 0.6790 0.7581 0.5788 0.6011 0.6211 0.6645 0.55 0.46 0.59 0.49 0.66 rs3741632 COSM4147078 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6161 0.4586 0.6658 0.5753 0.7632 0.5683 0.6010 0.5904 0.6650 0.5729 0.4641 0.6372 0.5894 0.7745 0.5706 0.6094 0.5982 het 1595.22 129 12 49086963 . G A 1595.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.241;DP=129;Dels=0.00;FS=0.661;HRun=0;HaplotypeScore=0.9979;MQ=59.21;MQ0=0;MQRankSum=-0.641;QD=12.37;ReadPosRankSum=0.384;VQSLOD=6.6161;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,66:129:99:1625,0,1678 12 49087656 49087656 G C exonic CCNT1 synonymous SNV CCNT1:NM_001240:exon9:c.C1341G:p.P447P 0.12 0.079 0.12 0.004 0.27 0.15 0.2355 0.0985 0.1125 0.0009 0.2243 0.3173 0.2660 0.2002 0.25 0.1 0.32 0.11 0.38 rs3013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2303 0.0977 0.1142 0.2944 0.0016 0.2228 0.3218 0.2471 0.2018 0.2288 0.1022 0.1551 0.2781 0.0031 0.2306 0.3295 0.2281 het 774.16 55 12 49087656 . G C 774.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.634;DP=55;Dels=0.00;FS=3.721;HRun=1;HaplotypeScore=2.8857;MQ=58.55;MQ0=0;MQRankSum=0.617;QD=14.08;ReadPosRankSum=-0.718;VQSLOD=4.9082;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,30:55:99:804,0,706 12 49176872 49176872 G T exonic ADCY6 synonymous SNV ADCY6:NM_015270:exon2:c.C346A:p.R116R 0.15 0.26 0.11 0.001 0.15 0.2 0.1447 0.2437 0.0708 0.0013 0.1196 0.1499 0.1565 0.1995 0.18 0.23 0.15 0.23 0.082 rs3730308 COSM3753275 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1379 0.2347 0.0796 0.1371 0.0016 0.1104 0.1525 0.1403 0.1965 0.1672 0.2260 0.1110 0.1258 0.0006 0.1104 0.1687 0.1605 het 808.37 86 12 49176872 . G T 808.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=86;Dels=0.00;FS=4.346;HRun=0;HaplotypeScore=3.8518;MQ=59.22;MQ0=0;MQRankSum=0.967;QD=9.40;ReadPosRankSum=0.633;VQSLOD=5.0288;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,35:86:99:838,0,1367 12 49255798 49255798 G C exonic RND1 synonymous SNV RND1:NM_014470:exon3:c.C312G:p.L104L 0.41 0.28 0.54 0.39 0.47 0.45 0.4590 0.3325 0.6200 0.4049 0.4007 0.4697 0.4292 0.4348 0.42 0.33 0.47 0.43 0.53 rs1565933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4662 0.3289 0.6104 0.5133 0.4091 0.4007 0.4678 0.4797 0.4340 0.4079 0.3440 0.5658 0.4834 0.4033 0.3955 0.4361 0.4395 het 1414.10 104 12 49255798 . G C 1414.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.078;DP=104;Dels=0.00;FS=3.240;HRun=0;HaplotypeScore=4.5854;MQ=59.19;MQ0=0;MQRankSum=0.059;QD=13.60;ReadPosRankSum=-0.546;VQSLOD=5.5831;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,51:104:99:1444,0,1499 12 49308284 49308284 A G exonic CCDC65 nonsynonymous SNV CCDC65:NM_033124:exon3:c.A398G:p.H133R 0.31 0.11 0.5 0.44 0.41 0.21 0.3699 0.1536 0.5622 0.4749 0.3833 0.3935 0.3565 0.2162 0.31 0.16 0.38 0.3 0.43 rs10747556 COSM3753280;COSM3753279 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign not_specified RCV000454859.1 MedGen CN169374 . . . . . . 0.575 0.061 T 0.0 0.026 B 0.0 0.013 B 0.430 0.127 N 1.000 0.204 P -1.87 0.003 N 1.63 0.280 T 0.56 0.027 N 0.031 0.012 -0.903 0.477 T 0.000 0.000 T . . . -2.222 0.005 0.001 0.458 0.036 0.009 0.035 N c -1.681 -1.520 0.020 0.133 0.554 0.283 0 0.867 0.181 3.335 0.516 -0.829 0.030 0.999 0.424 0.222 0.222 11.274 0.482 . ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000239617.1|ENSG00000272822.1|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000169884.9|ENSG00000139537.6|ENSG00000134285.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000272822.1|ENSG00000169884.9|ENSG00000139537.6|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000134285.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000139537.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000239617.1|ENSG00000272822.1|ENSG00000239617.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3819 0.1516 0.5545 0.4339 0.4710 0.3811 0.3875 0.3918 0.2202 0.3173 0.1675 0.4893 0.4371 0.4522 0.3708 0.3613 0.3824 het 1728.41 154 12 49308284 . A G 1728.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.263;DP=154;Dels=0.00;FS=8.578;HRun=0;HaplotypeScore=5.5168;MQ=59.09;MQ0=0;MQRankSum=-0.762;QD=11.22;ReadPosRankSum=0.123;VQSLOD=3.6567;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,68:154:99:1758,0,2231 12 49312593 49312593 A G exonic CCDC65 synonymous SNV CCDC65:NM_001286957:exon6:c.A504G:p.R168R,CCDC65:NM_033124:exon6:c.A933G:p.R311R 0.31 0.1 0.49 0.44 0.41 0.21 0.3693 0.1501 0.5621 0.4696 0.3833 0.3939 0.3559 0.2161 0.31 0.16 0.38 0.3 0.45 rs10875893 COSM3753286;COSM3753285 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000455413.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3817 0.1482 0.5548 0.4365 0.4662 0.3812 0.3878 0.3926 0.2202 0.3162 0.1638 0.4893 0.4371 0.4465 0.3701 0.3620 0.3798 het 1349.58 97 12 49312593 . A G 1349.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.019;DP=97;Dels=0.00;FS=6.863;HRun=1;HaplotypeScore=3.9685;MQ=59.62;MQ0=0;MQRankSum=-1.521;QD=13.91;ReadPosRankSum=-1.087;VQSLOD=4.1044;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,51:97:99:1380,0,1176 12 49314862 49314862 C A exonic CCDC65 synonymous SNV CCDC65:NM_001286957:exon7:c.C747A:p.T249T,CCDC65:NM_033124:exon7:c.C1176A:p.T392T 0.31 0.1 0.49 0.45 0.41 0.21 0.3697 0.1512 0.5615 0.4706 0.3832 0.3933 0.3556 0.2172 0.31 0.16 0.38 0.3 0.44 rs10875894 COSM3753288;COSM3753287 1(thyroid);1(large_intestine) Benign not_specified RCV000455011.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3814 0.1482 0.5544 0.4343 0.4676 0.3814 0.3875 0.3914 0.2199 0.3159 0.1635 0.4880 0.4371 0.4458 0.3702 0.3620 0.3809 het 731.96 48 12 49314862 . C A 731.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.930;DP=48;Dels=0.00;FS=1.076;HRun=2;HaplotypeScore=1.3123;MQ=60.00;MQ0=0;MQRankSum=-1.060;QD=15.25;ReadPosRankSum=-1.226;VQSLOD=5.9318;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,27:48:99:762,0,498 12 49314994 49314994 A G exonic CCDC65 nonsynonymous SNV CCDC65:NM_001286957:exon8:c.A794G:p.Y265C,CCDC65:NM_033124:exon8:c.A1223G:p.Y408C 0.31 0.1 0.49 0.44 0.41 0.21 0.3692 0.1502 0.5616 0.4716 0.3836 0.3936 0.3543 0.2163 0.31 0.16 0.38 0.3 0.45 rs4760600 COSM3753289;COSM3753290 1(large_intestine) Benign not_specified RCV000455692.1 MedGen CN169374 . . . . . . 0.002 0.784 D 1.0 0.899 D 0.996 0.832 D 0.000 0.452 D 0.000 0.810 P 3.195 0.893 M 4.31 0.024 T -7.88 0.961 D 0.565 0.598 -0.932 0.439 T 0.000 0.000 T . . . 5.522 0.750 26.3 0.998 0.869 0.882 0.477 D c 0.605 0.550 1.000 0.480 0.660 0.495 0 4.47 0.536 3.969 0.563 1.135 0.883 1.000 0.715 1.000 0.888 11.262 0.481 . ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000239617.1|ENSG00000272822.1|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000169884.9|ENSG00000139537.6|ENSG00000134285.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000272822.1|ENSG00000169884.9|ENSG00000139537.6|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000134285.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000139537.6|ENSG00000239617.1|ENSG00000139537.6|ENSG00000272822.1|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000134285.6|ENSG00000139537.6|ENSG00000272822.1|ENSG00000239617.1|ENSG00000272822.1|ENSG00000239617.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3814 0.1481 0.5545 0.4342 0.4676 0.3807 0.3874 0.3921 0.2203 0.3158 0.1639 0.4893 0.4371 0.4447 0.3701 0.3615 0.3814 het 852.71 70 12 49314994 . A G 852.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.353;DP=70;Dels=0.00;FS=6.908;HRun=0;HaplotypeScore=0.9996;MQ=60.00;MQ0=0;MQRankSum=-0.282;QD=12.18;ReadPosRankSum=-1.024;VQSLOD=4.9792;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:883,0,983 12 49333799 49333799 G A exonic ARF3 synonymous SNV ARF3:NM_001659:exon3:c.C240T:p.H80H 0.062 0.0098 0.029 0.004 0.07 0.21 0.0740 0.0118 0.0410 0.0079 0.0502 0.0715 0.0672 0.1909 0.051 0.012 0.071 0.043 0.049 rs2228417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0727 0.0116 0.0398 0.0791 0.0072 0.0507 0.0711 0.0758 0.1949 0.0454 0.0129 0.0442 0.0795 0.0086 0.0489 0.0652 0.0713 het 1088.29 98 12 49333799 . G A 1088.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.944;DP=98;Dels=0.00;FS=0.804;HRun=1;HaplotypeScore=8.4968;MQ=58.78;MQ0=0;MQRankSum=-1.333;QD=11.11;ReadPosRankSum=-0.592;VQSLOD=3.9734;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,45:98:99:1118,0,1414 12 49334762 49334762 G C exonic ARF3 synonymous SNV ARF3:NM_001659:exon2:c.C117G:p.L39L 0.92 0.76 0.96 1. 0.98 0.98 0.9590 0.7809 0.9712 0.9999 0.9943 0.9740 0.9614 0.9666 0.91 0.78 0.97 0.9 0.97 rs12122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9624 0.7729 0.9719 0.9644 0.9999 0.9942 0.9720 0.9635 0.9665 0.9245 0.7869 0.9522 0.9735 0.9981 0.9951 0.9737 0.9807 hom 8433.38 250 12 49334762 . G C 8433.38 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.3365;MQ=59.31;MQ0=0;QD=33.73;VQSLOD=9.0621;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8433,650,0 12 49359989 49359989 G A exonic WNT10B synonymous SNV WNT10B:NM_003394:exon5:c.C1059T:p.H353H 0.31 0.1 0.5 0.45 0.42 0.21 0.3705 0.1508 0.5633 0.4707 0.3869 0.3950 0.3551 0.2164 0.31 0.16 0.38 0.3 0.44 rs1051886 COSM3753291 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3817 0.1477 0.5544 0.4356 0.4666 0.3832 0.3877 0.3925 0.2196 0.3154 0.1626 0.4892 0.4338 0.4457 0.3715 0.3609 0.3801 het 608.95 59 12 49359989 . G A 608.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.771;DP=59;Dels=0.00;FS=3.754;HRun=0;HaplotypeScore=2.8786;MQ=59.61;MQ0=0;MQRankSum=0.176;QD=10.32;ReadPosRankSum=-2.283;VQSLOD=5.1492;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,26:59:99:639,0,973 12 49427919 49427919 T C exonic KMT2D synonymous SNV KMT2D:NM_003482:exon38:c.A10671G:p.P3557P 0.022 0.003 0.045 . 0.065 0.012 0.0450 0.0105 0.0336 0.0003 0.0429 0.0650 0.0501 0.0167 0.05 0.013 0.067 0.011 . rs61942218 COSM5019732;COSM5019733 3(soft_tissue) Benign|Likely benign not_specified|Kabuki_syndrome RCV000080101.7|RCV000391105.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0796004:ORPHA2322:313426007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0462 0.0101 0.0374 0.0806 5.798e-05 0.0448 0.0656 0.0590 0.0166 0.0391 0.0115 0.0358 0.0497 0 0.0455 0.0572 0.0510 het 1998.66 144 12 49427919 . T C 1998.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.611;DP=144;Dels=0.00;FS=6.735;HRun=1;HaplotypeScore=0.9983;MQ=59.84;MQ0=0;MQRankSum=0.402;QD=13.88;ReadPosRankSum=-0.657;VQSLOD=5.0308;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,72:144:99:2029,0,2168 12 49430947 49430947 T C exonic KMT2D nonsynonymous SNV KMT2D:NM_003482:exon34:c.A10192G:p.M3398V 0.0038 0.0015 0.0043 . 0.014 . 0.0100 0.0014 0.0021 0.0005 0.0141 0.0149 0.0074 0.0031 0.0084 0.0012 0.012 . . rs75937132 COSM5019244;COSM5019243 1(soft_tissue) Benign|Likely benign\x2cUncertain significance not_specified|Kabuki_syndrome\x2cnot_provided RCV000080098.7|RCV000390546.1\x2cRCV000436939.1 MedGen|MedGen:Orphanet:SNOMED_CT\x2cMedGen CN169374|C0796004:ORPHA2322:313426007\x2cCN221809 . . . . . . 0.002 0.721 D 0.0 0.026 B 0.0 0.013 B 0.011 0.297 N 0.954 0.264 N 0.55 0.145 N -1.37 0.802 T -2.84 0.598 D 0.167 0.202 -0.593 0.651 T 0.294 0.666 T . . . 0.172 0.110 4.385 0.876 0.168 0.919 0.542 D c -0.162 -0.022 0.917 0.265 0.672 0.522 0 4.32 0.507 1.353 0.334 1.058 0.762 0.710 0.285 0.976 0.476 9.556 0.383 . . . 0.0088 0.0014 0.0023 0.0053 0.0008 0.0146 0.0139 0.0083 0.0024 0.0085 0.0018 0.0096 0 0.0012 0.0152 0.0115 0.0112 het 1131.83 117 12 49430947 . T C 1131.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.084;DP=117;Dels=0.00;FS=0.698;HRun=0;HaplotypeScore=3.4442;MQ=59.31;MQ0=0;MQRankSum=-1.183;QD=9.67;ReadPosRankSum=-0.097;VQSLOD=5.0249;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,48:117:99:1162,0,1847 12 50348078 50348078 T C exonic AQP2 synonymous SNV AQP2:NM_000486:exon2:c.T501C:p.S167S 0.67 0.43 0.84 0.68 0.81 0.7 0.7593 0.4830 0.8804 0.6330 0.8510 0.8015 0.7661 0.7022 0.69 0.48 0.8 0.64 0.63 rs426496 COSM1747030 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7669 0.4628 0.8766 0.7307 0.6266 0.8408 0.8056 0.7730 0.6996 0.7135 0.4838 0.8425 0.7351 0.6322 0.8469 0.8103 0.8133 hom 898.38 31 12 50348078 . T C 898.38 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.98;VQSLOD=13.1912;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:78.23:931,78,0 12 50452708 50452708 C G exonic ASIC1 synonymous SNV ASIC1:NM_001095:exon2:c.C159G:p.S53S,ASIC1:NM_020039:exon2:c.C159G:p.S53S 0.93 0.93 0.88 0.85 0.98 0.98 0.9551 0.9232 0.8461 0.8648 0.9952 0.9828 0.9604 0.9704 0.96 0.93 0.98 0.9 0.99 rs653576 COSM4147136 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9521 0.9223 0.8593 0.9635 0.8618 0.9955 0.9835 0.9533 0.9695 0.9560 0.9249 0.9010 0.9404 0.8583 0.9948 0.9777 0.9745 hom 5322.41 167 12 50452708 . C G 5322.41 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7815;MQ=59.53;MQ0=0;QD=31.87;VQSLOD=8.1933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5321,442,0 12 50503269 50503269 C T exonic GPD1 synonymous SNV GPD1:NM_001257199:exon8:c.C948T:p.I316I,GPD1:NM_005276:exon8:c.C1017T:p.I339I 0.21 0.098 0.3 0.096 0.4 0.2 0.3060 0.1332 0.2762 0.0844 0.3861 0.3756 0.3579 0.2352 0.3 0.14 0.38 0.26 0.34 rs836180 COSM3753299 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3136 0.1291 0.2902 0.4771 0.0812 0.3808 0.3743 0.3322 0.2370 0.2830 0.1381 0.3182 0.4669 0.0836 0.3851 0.3567 0.3255 hom 3554.58 118 12 50503269 . C T 3554.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.22;MQ0=0;MQRankSum=1.321;QD=30.12;ReadPosRankSum=-1.468;VQSLOD=8.6760;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,117:118:99:3514,246,0 12 51135275 51135275 T C exonic DIP2B synonymous SNV DIP2B:NM_173602:exon37:c.T4431C:p.I1477I 0.96 0.86 0.98 1. 1. 1. 0.9884 0.8750 0.9931 1 1 0.9996 0.9945 0.9998 0.96 0.88 1. 0.97 0.98 rs1866422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9908 0.8730 0.9929 1 1 1 0.9996 0.9923 0.9998 0.9640 0.8748 0.9881 1 1 1 0.9996 0.9939 hom 4377.65 144 12 51135275 . T C 4377.65 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3958;MQ=59.61;MQ0=0;QD=30.40;VQSLOD=7.9432;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4377,364,0 12 51208122 51208122 C G exonic ATF1 nonsynonymous SNV ATF1:NM_005171:exon6:c.C571G:p.P191A 0.0092 . 0.019 . 0.026 0.0072 0.0250 0.0051 0.0113 0 0.0184 0.0373 0.0264 0.0130 0.022 0.0064 0.031 0.011 0.0082 rs2230674 COSM5618439 1(breast) . . . . . . . . . . . 0.054 0.386 T 0.999 0.764 D 0.994 0.807 D 0.000 0.843 D 1 0.810 D 1.705 0.444 L 0.07 0.622 T -5.27 0.856 D 0.122 0.278 -0.359 0.733 T 0.214 0.576 T . . . 3.538 0.483 23.1 0.977 0.350 0.979 0.775 D c 0.676 0.630 1.000 0.500 0.719 0.830 0 4.79 0.608 4.561 0.603 0.931 0.441 0.993 0.376 0.997 0.653 18.211 0.898 . . . 0.0242 0.0049 0.0124 0.0362 0 0.0166 0.0373 0.0237 0.0146 0.0206 0.0064 0.0179 0.0298 0 0.0160 0.0319 0.0244 het 1555.38 134 12 51208122 . C G 1555.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.785;DP=134;Dels=0.00;FS=3.199;HRun=1;HaplotypeScore=3.8259;MQ=59.27;MQ0=0;MQRankSum=-0.610;QD=11.61;ReadPosRankSum=1.754;VQSLOD=5.3381;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,58:134:99:1585,0,2120 12 51236802 51236802 T C exonic TMPRSS12 nonsynonymous SNV TMPRSS12:NM_182559:exon1:c.T55C:p.Y19H 0.3 0.33 0.27 0.4 0.22 0.25 0.3357 0.4058 0.3848 0.4904 0.3880 0.3045 0.3311 0.2833 0.25 0.32 0.22 0.25 . rs10876100 COSM3753307 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.145 0.251 T 0.0 0.026 B 0.0 0.013 B 0.406 0.046 N 1 0.090 P 0.345 0.112 N -2.62 0.900 D -0.59 0.227 N 0.024 0.007 -1.097 0.044 T 0.000 0.000 T . . . -1.551 0.016 0.002 0.227 0.009 0.045 0.100 N c -1.629 -1.612 1.000 0.747 0.526 0.212 0 1.08 0.194 -0.085 0.111 -0.556 0.047 0.000 0.063 0.000 0.016 6.967 0.237 . . . 0.2612 0.3466 0.2636 0.1928 0.4327 0.3040 0.2288 0.2452 0.2329 0.2898 0.3451 0.2399 0.2252 0.4512 0.3193 0.2394 0.2602 het 179.23 19 12 51236802 . T C 179.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.493;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.127;QD=9.43;ReadPosRankSum=-0.972;VQSLOD=11.2097;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:209,0,298 12 51237816 51237816 G A exonic TMPRSS12 nonsynonymous SNV TMPRSS12:NM_182559:exon2:c.G379A:p.A127T 0.17 0.13 0.2 0.022 0.35 0.16 0.3395 0.2094 0.2400 0.0378 0.3594 0.4103 0.3660 0.2579 0.28 0.17 0.34 0.16 . rs861204 COSM4147154 1(thyroid) . . . . . . . . . . . 0.639 0.095 T 0.108 0.245 B 0.041 0.226 B 0.019 0.015 N 1 0.090 P 0.28 0.100 N 0.22 0.599 T -0.15 0.093 N 0.06 0.044 -1.097 0.044 T 0.000 0.000 T . . . -0.984 0.033 0.017 0.808 0.129 0.001 0.005 N c -1.963 -2.070 1.000 0.747 0.487 0.133 0 -10.7 0.002 -3.226 0.006 -1.530 0.010 0.000 0.063 0.682 0.305 2.811 0.051 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000123268.4|ENSG00000185432.10|ENSG00000123268.4|ENSG00000123268.4|ENSG00000139624.8|ENSG00000123268.4 Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Whole_Blood 0.2676 0.1664 0.1787 0.4166 0.0256 0.3121 0.3490 0.2890 0.1721 0.2686 0.1729 0.2267 0.3675 0.0370 0.3057 0.3386 0.3070 het 250.47 24 12 51237816 . G A 250.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.695;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=58.43;MQ0=0;MQRankSum=0.406;QD=10.44;ReadPosRankSum=1.275;VQSLOD=6.2637;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,11:24:99:280,0,320 12 51636259 51636259 C T exonic DAZAP2 synonymous SNV DAZAP2:NM_001136266:exon4:c.C447T:p.L149L 0.81 0.79 0.86 0.9 0.76 0.78 0.7791 0.7886 0.8576 0.8910 0.7413 0.7586 0.7786 0.7573 0.78 0.8 0.77 0.75 0.68 rs1049467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7819 0.7886 0.8547 0.7731 0.8882 0.7363 0.7592 0.7874 0.7565 0.7758 0.7888 0.8401 0.7517 0.8907 0.7286 0.7629 0.7879 hom 5586.11 167 12 51636259 . C T 5586.11 Mask AC=2;AF=1.00;AN=2;DP=167;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3087;MQ=50.21;MQ0=3;QD=33.45;VQSLOD=3.4927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5585,460,0 12 51681903 51681903 T C exonic BIN2 nonsynonymous SNV BIN2:NM_001290008:exon10:c.A1585G:p.N529D,BIN2:NM_001290009:exon10:c.A1213G:p.N405D,BIN2:NM_001290007:exon11:c.A1507G:p.N503D,BIN2:NM_016293:exon11:c.A1681G:p.N561D 0.83 0.6 0.9 0.93 0.9 0.94 0.8845 0.6140 0.9172 0.9370 0.9303 0.8947 0.9062 0.9438 0.8 0.63 0.9 0.78 0.89 rs7954976 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.786 0.094 N 1 0.090 P -1.795 0.003 N 0.5 0.561 T 0.48 0.033 N 0.003 0.002 -0.974 0.363 T 0.000 0.000 T . . . -1.204 0.025 0.006 0.140 0.003 0.000 0.002 N c -1.463 -1.420 0.165 0.176 0.707 0.730 0 1.8 0.240 0.266 0.182 -0.099 0.117 0.100 0.226 0.006 0.095 4.953 0.133 . . . 0.8910 0.6089 0.9094 0.9087 0.9367 0.9309 0.8926 0.9019 0.9429 0.8246 0.6136 0.9079 0.9272 0.9414 0.9327 0.8972 0.9083 het 1197 119 12 51681903 . T C 1197 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.665;DP=119;Dels=0.00;FS=2.601;HRun=0;HaplotypeScore=3.5782;MQ=59.41;MQ0=0;MQRankSum=-1.396;QD=10.06;ReadPosRankSum=-0.617;VQSLOD=5.3242;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,54:119:99:1227,0,1739 12 51685831 51685831 T C exonic BIN2 synonymous SNV BIN2:NM_001290008:exon9:c.A1059G:p.E353E,BIN2:NM_001290009:exon9:c.A687G:p.E229E,BIN2:NM_001290007:exon10:c.A981G:p.E327E,BIN2:NM_016293:exon10:c.A1155G:p.E385E 0.78 0.56 0.86 0.84 0.86 0.87 0.8428 0.5818 0.9011 0.8423 0.8849 0.8599 0.8639 0.8795 0.77 0.59 0.86 0.75 0.75 rs3210837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8502 0.5780 0.8937 0.8391 0.8470 0.8809 0.8603 0.8651 0.8815 0.7868 0.5823 0.8807 0.8311 0.8537 0.8919 0.8633 0.8569 het 834.81 56 12 51685831 . T C 834.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DP=56;Dels=0.00;FS=5.695;HRun=0;HaplotypeScore=1.8899;MQ=59.67;MQ0=0;MQRankSum=1.319;QD=14.91;ReadPosRankSum=-0.926;VQSLOD=5.3645;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,28:56:99:865,0,790 12 51696500 51696500 G A exonic BIN2 synonymous SNV BIN2:NM_001290007:exon4:c.C204T:p.D68D,BIN2:NM_001290008:exon4:c.C378T:p.D126D,BIN2:NM_016293:exon4:c.C378T:p.D126D 0.14 0.2 0.1 0.23 0.098 0.047 0.1102 0.1733 0.0803 0.2306 0.0739 0.1082 0.1046 0.0515 0.13 0.17 0.11 0.14 0.09 rs7975715 COSM4419279 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1080 0.1715 0.0868 0.1143 0.2263 0.0724 0.1095 0.1032 0.0521 0.1255 0.1730 0.0835 0.0927 0.2163 0.0713 0.1056 0.0959 het 2618.18 245 12 51696500 . G A 2618.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.716;DP=245;DS;Dels=0.00;FS=0.473;HRun=0;HaplotypeScore=8.3490;MQ=60.70;MQ0=0;MQRankSum=0.379;QD=10.69;ReadPosRankSum=0.212;VQSLOD=2.6940;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:145,100:245:99:2648,0,3651 12 51707626 51707626 C T exonic BIN2 nonsynonymous SNV BIN2:NM_001290007:exon2:c.G65A:p.S22N,BIN2:NM_001290008:exon2:c.G239A:p.S80N,BIN2:NM_016293:exon2:c.G239A:p.S80N 0.15 0.22 0.1 0.25 0.098 0.047 0.1130 0.1895 0.0808 0.2486 0.0739 0.1082 0.1046 0.0515 0.13 0.18 0.11 0.15 0.09 rs7312857 COSM4415491 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(skin) . . . . . . . . . . . 0.769 0.034 T 0.0 0.026 B 0.0 0.040 B 0.566 0.113 N 1.000 0.090 P -0.69 0.019 N 0.34 0.582 T -0.12 0.088 N 0.015 0.041 -1.008 0.275 T 0.000 0.000 T . . . 1.219 0.212 11.85 0.821 0.135 0.052 0.108 N c -1.295 -1.169 0.975 0.296 0.707 0.730 0 -4.57 0.032 -0.051 0.117 -0.689 0.038 0.430 0.262 0.980 0.490 13.890 0.631 Arfaptin homology (AH) domain/BAR domain|BAR domain . . 0.1104 0.1870 0.0874 0.1144 0.2458 0.0725 0.1095 0.1038 0.0520 0.1306 0.1858 0.0847 0.0927 0.2422 0.0719 0.1056 0.0965 het 1831.90 143 12 51707626 . C T 1831.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.995;DP=143;Dels=0.00;FS=3.983;HRun=1;HaplotypeScore=0.9578;MQ=59.12;MQ0=0;MQRankSum=-0.621;QD=12.81;ReadPosRankSum=0.740;VQSLOD=6.2001;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,76:143:99:1862,0,1704 12 51723499 51723499 T C exonic CELA1 nonsynonymous SNV CELA1:NM_001971:exon7:c.A728G:p.Q243R 0.093 0.13 0.081 0.099 0.1 0.04 0.0913 0.1113 0.0708 0.0949 0.0753 0.1055 0.0819 0.0405 0.11 0.11 0.1 0.087 0.074 rs17860364 COSM3753311 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.186 P -2.605 0.000 N -2.74 0.907 D 3.52 0.001 N 0.094 0.094 -0.854 0.517 T 0.003 0.011 T . . . 1.280 0.218 12.17 0.337 0.020 0.043 0.097 N c -0.817 -0.501 1.000 0.747 0.616 0.391 0 5.41 0.782 3.381 0.519 0.040 0.155 0.995 0.385 0.982 0.498 13.700 0.619 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000184271.11 Skin_Sun_Exposed_Lower_leg 0.0901 0.1107 0.0774 0.0916 0.0965 0.0738 0.1069 0.0895 0.0406 0.1023 0.1171 0.0730 0.0728 0.1156 0.0730 0.1025 0.0828 het 1463.60 98 12 51723499 . T C 1463.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.140;DP=98;Dels=0.00;FS=6.773;HRun=2;HaplotypeScore=2.9285;MQ=58.16;MQ0=0;MQRankSum=0.810;QD=14.93;ReadPosRankSum=-1.447;VQSLOD=4.1437;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,57:98:99:1494,0,1021 12 51733734 51733734 G A exonic CELA1 synonymous SNV CELA1:NM_001971:exon6:c.C519T:p.Y173Y 0.23 0.21 0.32 0.4 0.12 0.15 0.1766 0.1926 0.4277 0.4048 0.1460 0.1129 0.1331 0.1430 0.13 0.19 0.11 0.16 0.066 rs17860317 COSM3753312 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1841 0.1897 0.4127 0.0942 0.4095 0.1323 0.1120 0.1542 0.1392 0.1595 0.1934 0.3194 0.0705 0.4370 0.1295 0.1113 0.1347 het 464.54 43 12 51733734 . G A 464.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DP=43;Dels=0.00;FS=2.953;HRun=0;HaplotypeScore=1.8499;MQ=57.26;MQ0=0;MQRankSum=0.956;QD=10.80;ReadPosRankSum=0.932;VQSLOD=4.6956;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,17:43:99:495,0,725 12 51737607 51737607 G A exonic CELA1 nonsynonymous SNV CELA1:NM_001971:exon3:c.C130T:p.R44W 0.23 0.21 0.32 0.4 0.12 0.15 0.1982 0.2125 0.4444 0.4219 0.1674 0.1309 0.1416 0.1544 0.14 0.19 0.11 0.16 0.082 rs17860299 COSM147514 1(stomach);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.009 0.308 N 1.000 0.209 P 0.515 0.136 N -2.49 0.892 D 8.79 0.000 N 0.131 0.150 -1.083 0.068 T 0.000 0.000 T . . . 3.046 0.426 22.4 0.209 0.008 0.042 0.096 N c -0.557 -0.328 0.999 0.385 0.428 0.059 0 4.89 0.632 7.020 0.760 0.236 0.261 1.000 0.715 0.511 0.273 10.138 0.417 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000184271.11 Skin_Sun_Exposed_Lower_leg 0.1849 0.1899 0.4130 0.0945 0.4103 0.1329 0.1124 0.1541 0.1399 0.1593 0.1930 0.3198 0.0762 0.4385 0.1295 0.1110 0.1327 het 769.83 51 12 51737607 . G A 769.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.373;DP=51;Dels=0.00;FS=6.646;HRun=0;HaplotypeScore=0.7887;MQ=58.90;MQ0=0;MQRankSum=0.660;QD=15.09;ReadPosRankSum=-0.392;VQSLOD=5.1920;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,30:51:99:800,0,556 12 52080965 52080965 C T exonic SCN8A synonymous SNV SCN8A:NM_001177984:exon5:c.C576T:p.D192D,SCN8A:NM_001330260:exon5:c.C576T:p.D192D,SCN8A:NM_014191:exon5:c.C576T:p.D192D 0.78 0.62 0.89 0.99 0.86 0.64 0.8367 0.6476 0.9245 0.9934 0.9083 0.8626 0.8408 0.6720 0.8 0.67 0.86 0.77 . rs4761829 . . other|Benign not_specified|Early_Infantile_Epileptic_Encephalopathy\x2c_Autosomal_Dominant RCV000118289.4|RCV000286822.1 MedGen|MedGen CN169374|CN239232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8471 0.6532 0.9183 0.8074 0.9914 0.9147 0.8663 0.8485 0.6783 0.8293 0.6567 0.9091 0.8311 0.9914 0.9193 0.8826 0.8857 hom 2165.87 68 12 52080965 . C T 2165.87 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7866;MQ=58.90;MQ0=0;QD=31.85;VQSLOD=9.6936;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2199,181,0 12 52184271 52184271 T C exonic SCN8A synonymous SNV SCN8A:NM_001177984:exon24:c.T4386C:p.P1462P,SCN8A:NM_001330260:exon25:c.T4509C:p.P1503P,SCN8A:NM_014191:exon25:c.T4509C:p.P1503P 0.5 0.3 0.75 0.57 0.73 0.3 0.6500 0.3477 0.7515 0.5779 0.7195 0.7495 0.6826 0.3575 0.63 0.37 0.75 0.5 . rs303815 COSM4147172;COSM4147173 1(thyroid) other|Benign not_specified|Early_Infantile_Epileptic_Encephalopathy\x2c_Autosomal_Dominant RCV000118283.3|RCV000348150.1 MedGen|MedGen CN169374|CN239232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6591 0.3398 0.7532 0.6787 0.5751 0.7274 0.7524 0.6883 0.3593 0.6318 0.3570 0.7375 0.6689 0.5896 0.7216 0.7634 0.7071 hom 1941.07 66 12 52184271 . T C 1941.07 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=29.41;VQSLOD=8.3372;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1974,147,0 12 52200742 52200742 C A exonic SCN8A synonymous SNV SCN8A:NM_001177984:exon26:c.C5349A:p.P1783P,SCN8A:NM_001330260:exon27:c.C5472A:p.P1824P,SCN8A:NM_014191:exon27:c.C5472A:p.P1824P 0.49 0.25 0.75 0.57 0.73 0.3 0.6416 0.2964 0.7467 0.5735 0.7153 0.7470 0.6774 0.3516 0.61 0.33 0.75 0.47 . rs60637 COSM5618849;COSM5618850 1(breast) other|Benign\x2cLikely benign not_specified|Early_Infantile_Epileptic_Encephalopathy\x2c_Autosomal_Dominant\x2cnot_specified RCV000118287.4|RCV000268450.1\x2cRCV000440782.1 MedGen|MedGen\x2cMedGen CN169374|CN239232\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6543 0.2945 0.7461 0.6790 0.5745 0.7229 0.7513 0.6863 0.3627 0.6153 0.3090 0.7309 0.6689 0.5818 0.7185 0.7598 0.7026 hom 6396.28 184 12 52200742 . C A 6396.28 Mask AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=34.76;VQSLOD=9.8318;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,184:184:99:6396,509,0 12 52282060 52282060 C T exonic ANKRD33 synonymous SNV ANKRD33:NM_182608:exon1:c.C90T:p.R30R 0.33 0.15 0.45 0.41 0.3 0.45 0.3460 0.1519 0.5370 0.4098 0.3653 0.3112 0.3521 0.4332 0.26 0.15 0.31 0.3 0.25 rs697634 COSM3753323 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3567 0.1534 0.5187 0.3141 0.4021 0.3674 0.3115 0.3436 0.4265 0.2917 0.1571 0.4414 0.29 0.3841 0.3668 0.3309 0.3450 het 2252.47 175 12 52282060 . C T 2252.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.544;DP=175;Dels=0.00;FS=5.536;HRun=0;HaplotypeScore=0.9789;MQ=59.76;MQ0=0;MQRankSum=-0.407;QD=12.87;ReadPosRankSum=-0.524;VQSLOD=5.5686;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,86:175:99:2282,0,2281 12 52282873 52282873 A T exonic ANKRD33 nonsynonymous SNV ANKRD33:NM_001130015:exon3:c.A14T:p.Y5F,ANKRD33:NM_001304459:exon3:c.A14T:p.Y5F,ANKRD33:NM_182608:exon3:c.A419T:p.Y140F 0.32 0.12 0.41 0.42 0.31 0.45 0.3442 0.1417 0.4514 0.4275 0.3716 0.3223 0.3681 0.4292 0.26 0.14 0.33 0.25 0.26 rs697636 COSM3753324;COSM3753325 1(large_intestine) . . . . . . . . . . . 0.148 0.342 T 0.134 0.615 B 0.038 0.577 B 0.287 0.148 N 1 0.090 P 0.415 0.125 N -0.07 0.638 T -3.06 0.643 D 0.192 0.235 -0.973 0.366 T 0.000 0.000 T . . . 2.620 0.376 20.3 0.915 0.202 0.095 0.151 N c -0.624 -0.686 0.761 0.235 0.581 0.330 0 1.46 0.217 -0.284 0.084 1.199 0.960 0.002 0.151 0.966 0.452 6.750 0.225 Ankyrin repeat-containing domain . . 0.3526 0.1440 0.4438 0.3237 0.4161 0.3722 0.3234 0.3456 0.4233 0.2921 0.1439 0.3804 0.2947 0.3949 0.3724 0.3400 0.3469 het 1342.31 105 12 52282873 . A T 1342.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.305;DP=105;Dels=0.00;FS=5.223;HRun=1;HaplotypeScore=5.4959;MQ=59.12;MQ0=0;MQRankSum=-0.089;QD=12.78;ReadPosRankSum=1.850;VQSLOD=4.2654;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,53:105:99:1372,0,1330 12 52284483 52284483 A G exonic ANKRD33 synonymous SNV ANKRD33:NM_001304460:exon4:c.A171G:p.Q57Q,ANKRD33:NM_001130015:exon5:c.A378G:p.Q126Q,ANKRD33:NM_182608:exon5:c.A753G:p.Q251Q,ANKRD33:NM_001304459:exon6:c.A441G:p.Q147Q 0.1 0.091 0.12 0.0069 0.22 0.1 0.1651 0.1036 0.1003 0.0030 0.2641 0.2126 0.1776 0.1026 0.17 0.095 0.21 0.11 0.15 rs7303030 COSM3753329;COSM3753330 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1625 0.1005 0.1015 0.1526 0.0030 0.2684 0.2149 0.1951 0.1048 0.1821 0.1021 0.1337 0.1325 0.0012 0.2660 0.2314 0.2 het 566.55 52 12 52284483 . A G 566.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.369;DP=52;Dels=0.00;FS=1.113;HRun=1;HaplotypeScore=0.9916;MQ=58.43;MQ0=0;MQRankSum=1.656;QD=10.90;ReadPosRankSum=1.202;VQSLOD=5.6543;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,23:52:99:597,0,809 12 52284500 52284500 A G exonic ANKRD33 nonsynonymous SNV ANKRD33:NM_001304460:exon4:c.A188G:p.Q63R,ANKRD33:NM_001130015:exon5:c.A395G:p.Q132R,ANKRD33:NM_182608:exon5:c.A770G:p.Q257R,ANKRD33:NM_001304459:exon6:c.A458G:p.Q153R 0.15 0.032 0.13 0.21 0.19 0.21 0.1952 0.0571 0.1533 0.2043 0.2199 0.2124 0.2230 0.2220 0.16 0.063 0.2 0.12 0.16 rs34494292 COSM3753331;COSM3753332 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(pancreas);1(liver);1(large_intestine) . . . . . . . . . . . 0.365 0.244 T 0.146 0.382 B 0.024 0.283 B 0.685 0.102 N 1 0.090 P 0.235 0.097 N 2.09 0.201 T -1.98 0.457 N 0.056 0.049 -0.977 0.358 T 0.000 0.000 T . . . 0.756 0.166 9.190 0.962 0.286 0.150 0.185 N c -0.795 -0.831 0.987 0.312 0.554 0.283 0 -0.552 0.112 0.754 0.259 0.083 0.191 0.000 0.063 0.960 0.441 3.266 0.064 . . . 0.1908 0.0530 0.1555 0.2341 0.1956 0.2113 0.2056 0.1912 0.2167 0.1596 0.0577 0.1571 0.2384 0.1883 0.2172 0.1974 0.2133 het 683.03 51 12 52284500 . A G 683.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.297;DP=51;Dels=0.00;FS=2.488;HRun=1;HaplotypeScore=0.8667;MQ=58.77;MQ0=0;MQRankSum=-0.028;QD=13.39;ReadPosRankSum=-0.426;VQSLOD=5.6072;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,28:51:99:713,0,643 12 52284668 52284668 C A exonic ANKRD33 nonsynonymous SNV ANKRD33:NM_001304460:exon4:c.C356A:p.T119N,ANKRD33:NM_001130015:exon5:c.C563A:p.T188N,ANKRD33:NM_182608:exon5:c.C938A:p.T313N,ANKRD33:NM_001304459:exon6:c.C626A:p.T209N 0.17 0.088 0.12 0.17 0.23 0.23 0.2012 0.1011 0.1104 0.1773 0.2591 0.2246 0.2180 0.2194 0.18 0.097 0.23 0.14 0.082 rs12368048 COSM3753333;COSM3753334 1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 0.976 0.715 D 0.631 0.674 P 0.000 0.843 D 0.000 0.493 P 2.71 0.795 M 0.64 0.529 T -4.83 0.816 D 0.078 0.362 -1.147 0.011 T 0.000 0.000 T . . . 6.360 0.878 29.4 0.994 0.647 0.989 0.885 D c 0.671 0.631 1.000 0.747 0.554 0.283 0 4.7 0.586 5.273 0.652 0.852 0.362 1.000 0.715 0.974 0.471 15.02 0.712 . . . 0.1999 0.0993 0.1094 0.1774 0.1780 0.2613 0.2282 0.2147 0.2190 0.1981 0.1004 0.1376 0.16 0.1766 0.2626 0.2453 0.2156 het 695.55 44 12 52284668 . C A 695.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.325;DP=44;Dels=0.00;FS=4.336;HRun=2;HaplotypeScore=1.8288;MQ=60.00;MQ0=0;MQRankSum=-0.442;QD=15.81;ReadPosRankSum=-0.370;VQSLOD=5.9648;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,26:44:99:726,0,496 12 52285086 52285086 G A exonic ANKRD33 nonsynonymous SNV ANKRD33:NM_001304460:exon5:c.G574A:p.V192I,ANKRD33:NM_001130015:exon6:c.G781A:p.V261I 0.15 0.032 0.13 0.2 0.19 0.21 0.2043 0.0612 0.1654 0.2083 0.2397 0.2207 0.2218 0.2323 0.16 0.064 0.2 0.12 0.16 rs3180417 COSM6023431;COSM6023432 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.089 0.321 T 0.012 0.151 B 0.007 0.121 B . . . 1 0.090 P . . . 2.32 0.166 T -0.44 0.146 N . . -0.965 0.383 T 0.000 0.000 T . . . 1.290 0.220 12.22 0.912 0.199 0.062 0.120 N c -1.116 -1.230 0.997 0.351 0.554 0.283 0 -6.62 0.016 -2.275 0.012 -0.755 0.034 0.000 0.063 0.267 0.231 7.079 0.242 . . . 0.1897 0.0525 0.1549 0.2347 0.1872 0.2124 0.2040 0.1899 0.2142 0.1591 0.0580 0.1599 0.2384 0.1799 0.2168 0.1972 0.2138 het 651.47 44 12 52285086 . G A 651.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.426;DP=44;Dels=0.00;FS=1.451;HRun=2;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=0.271;QD=14.81;ReadPosRankSum=2.251;VQSLOD=5.2309;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,24:44:99:681,0,491 12 52435691 52435691 G A exonic NR4A1 synonymous SNV NR4A1:NM_001202233:exon2:c.G15A:p.K5K,NR4A1:NM_001202234:exon2:c.G138A:p.K46K 0.039 0.0045 0.084 . 0.12 0.01 0.1578 0.0328 0.0889 0.0002 0.1912 0.2188 0.1475 0.0278 0.1 0.026 0.13 0.065 . rs7316491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0903 0.0190 0.0553 0.1048 0.0002 0.1289 0.1392 0.0977 0.0125 0.0874 0.0244 0.0837 0.1060 0 0.1312 0.1231 0.0855 het 63.26 13 12 52435691 . G A 63.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.774;DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=55.03;MQ0=0;MQRankSum=-0.077;QD=4.87;ReadPosRankSum=-0.540;VQSLOD=5.0002;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,4:13:93.26:93,0,245 12 52448157 52448157 G A exonic NR4A1 synonymous SNV NR4A1:NM_173157:exon2:c.G45A:p.P15P,NR4A1:NM_001202233:exon3:c.G84A:p.P28P,NR4A1:NM_001202234:exon3:c.G207A:p.P69P,NR4A1:NM_002135:exon3:c.G45A:p.P15P 0.15 0.32 0.05 0.11 0.079 0.089 0.1021 0.2946 0.0481 0.0842 0.0902 0.0828 0.0993 0.1116 0.15 0.28 0.082 0.21 0.09 rs2701124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0945 0.2895 0.0475 0.1056 0.0872 0.0888 0.0793 0.0907 0.1087 0.1429 0.2826 0.0621 0.1026 0.0769 0.0815 0.0910 0.1019 het 846.78 63 12 52448157 . G A 846.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.986;DP=63;Dels=0.00;FS=0.968;HRun=0;HaplotypeScore=1.8583;MQ=58.06;MQ0=0;MQRankSum=1.427;QD=13.44;ReadPosRankSum=0.421;VQSLOD=5.4348;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,34:63:99:877,0,714 12 52452716 52452716 G A exonic NR4A1 synonymous SNV NR4A1:NM_173157:exon7:c.G1785A:p.T595T,NR4A1:NM_001202233:exon8:c.G1824A:p.T608T,NR4A1:NM_001202234:exon8:c.G1947A:p.T649T,NR4A1:NM_002135:exon8:c.G1785A:p.T595T . . . . . . 0.0001 0 0.0007 0 0.0002 6.079e-05 0 0 . . . . . rs746171681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9.778e-05 0 0.0004 0 0 4.522e-05 7.187e-05 0.0002 0 . . . . . . . . het 590.82 62 12 52452716 . G A 590.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=62;Dels=0.00;FS=3.803;HRun=0;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;MQRankSum=-0.131;QD=9.53;ReadPosRankSum=-0.248;VQSLOD=4.3847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,23:62:99:621,0,962 12 52565322 52565322 G T exonic KRT80 synonymous SNV KRT80:NM_001081492:exon9:c.C1254A:p.P418P 0.76 0.66 0.81 0.89 0.83 0.66 0.8007 0.6937 0.8124 0.8952 0.8213 0.8281 0.8119 0.6903 0.79 0.71 0.83 0.75 0.75 rs3741737 COSM4147191 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8057 0.6917 0.8217 0.7985 0.8960 0.8217 0.8310 0.8088 0.6937 0.7986 0.7014 0.8353 0.7715 0.8783 0.8270 0.8384 0.7967 hom 1085.38 32 12 52565322 . G T 1085.38 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.92;VQSLOD=12.8908;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:93.25:1118,93,0 12 52566047 52566047 G A exonic KRT80 synonymous SNV KRT80:NM_001081492:exon7:c.C1113T:p.N371N,KRT80:NM_182507:exon7:c.C1113T:p.N371N 0.33 0.29 0.3 0.29 0.45 0.34 0.3601 0.2976 0.2505 0.2520 0.4817 0.3973 0.3488 0.3345 0.36 0.3 0.39 0.3 0.39 rs3741736 COSM3765654;COSM3765656;COSM3765655 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3587 0.3003 0.2633 0.4198 0.2428 0.4734 0.3928 0.3643 0.3297 0.3684 0.2880 0.3014 0.3874 0.2358 0.4888 0.4032 0.3949 het 3068.61 238 12 52566047 . G A 3068.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.519;DP=238;DS;Dels=0.00;FS=1.004;HRun=0;HaplotypeScore=5.2695;MQ=58.86;MQ0=0;MQRankSum=-0.529;QD=12.89;ReadPosRankSum=-1.048;VQSLOD=4.4384;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,116:238:99:3099,0,3107 12 52579259 52579259 C T exonic KRT80 nonsynonymous SNV KRT80:NM_001081492:exon2:c.G413A:p.R138Q,KRT80:NM_182507:exon2:c.G413A:p.R138Q . . . . . . 4.951e-05 0 0.0003 0 0 3.003e-05 0 0 0.0001 . 0.0001 . . rs140425330 . . . . . . . . . . . . . 0.048 0.400 D 0.545 0.482 P 0.071 0.350 B 0.046 0.234 N 0.801 0.345 D 0.505 0.135 N -2.34 0.880 D -0.33 0.125 N 0.146 0.172 -0.194 0.778 T 0.305 0.676 T 0.017 0.384 T 4.185 0.561 23.8 0.998 0.851 0.446 0.271 N c -0.269 -0.123 1.000 0.747 0.507 0.198 0 3.95 0.448 -0.043 0.119 0.013 0.140 0.001 0.137 0.961 0.442 11.971 0.522 . . . 6.908e-05 0 0.0004 0 0 0 1.791e-05 0.0004 3.249e-05 6.463e-05 0 0.0012 0 0 0 6.674e-05 0 het 1494.74 112 12 52579259 . C T 1494.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.009;DP=112;Dels=0.00;FS=3.842;HRun=0;HaplotypeScore=2.4029;MQ=60.00;MQ0=0;MQRankSum=-0.322;QD=13.35;ReadPosRankSum=-0.103;VQSLOD=4.3991;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,53:112:99:1525,0,1480 12 52579294 52579294 G A exonic KRT80 synonymous SNV KRT80:NM_001081492:exon2:c.C378T:p.F126F,KRT80:NM_182507:exon2:c.C378T:p.F126F 0.05 0.067 0.065 . 0.11 0.0061 0.0722 0.0773 0.0423 0 0.0620 0.1014 0.0453 0.0159 0.093 0.08 0.1 0.065 0.09 rs17704675 COSM3753336;COSM3753337;COSM3753335 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0707 0.0752 0.0470 0.0834 0.0002 0.0639 0.1030 0.0839 0.0149 0.0785 0.0784 0.0692 0.1060 0 0.0681 0.0895 0.0767 het 811.98 78 12 52579294 . G A 811.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.093;DP=78;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;MQRankSum=0.255;QD=10.41;ReadPosRankSum=-0.143;VQSLOD=6.8086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,31:78:99:842,0,1278 12 52627215 52627215 A G exonic KRT7 synonymous SNV KRT7:NM_005556:exon1:c.A135G:p.S45S 0.89 0.98 0.85 0.9 0.82 0.85 0.8260 0.9524 0.9088 0.8967 0.8478 0.7812 0.8141 0.8351 0.86 0.95 0.82 0.27 0.21 rs7308888 COSM3749213;COSM3749212 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8216 0.9451 0.8921 0.8287 0.8861 0.8450 0.7771 0.7904 0.8224 0.8622 0.9510 0.8696 0.8411 0.8941 0.8576 0.8102 0.8299 hom 777.05 29 12 52627215 . A G 777.05 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.476;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=57.57;MQ0=0;MQRankSum=0.706;QD=26.79;ReadPosRankSum=-0.706;VQSLOD=6.1175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,27:29:44.22:810,44,0 12 52631313 52631313 A G exonic KRT7 nonsynonymous SNV KRT7:NM_005556:exon3:c.A557G:p.H186R 0.87 0.92 0.84 0.9 0.82 0.85 0.8322 0.9059 0.9109 0.8968 0.8546 0.7953 0.8304 0.8368 0.84 0.9 0.8 0.92 0.81 rs6580870 . . . . . . . . . . . . . 0.275 0.157 T 0.0 0.026 B 0.001 0.040 B 0.177 0.032 N 1 0.090 P -1.11 0.010 N -1.29 0.795 T 2.86 0.002 N 0.017 0.282 -0.910 0.469 T 0.000 0.000 T . . . -1.053 0.030 0.012 0.390 0.027 0.053 0.110 N c -1.845 -1.758 1.000 0.747 0.707 0.730 0 -2.67 0.057 0.311 0.190 -0.244 0.091 0.017 0.192 0.144 0.203 14.85 0.698 . . . 0.8367 0.9054 0.9051 0.8432 0.8966 0.8495 0.7960 0.8114 0.8360 0.8484 0.9057 0.8693 0.8367 0.8826 0.8576 0.8097 0.8259 hom 4079.13 135 12 52631313 . A G 4079.13 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;QD=30.22;VQSLOD=8.8417;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4078,328,0 12 52635360 52635360 G A exonic KRT7 synonymous SNV KRT7:NM_005556:exon5:c.G798A:p.A266A 0.42 0.37 0.44 0.31 0.54 0.48 0.4941 0.4141 0.4251 0.3086 0.5289 0.5424 0.4856 0.4810 0.51 0.42 0.55 0.41 0.53 rs999665 COSM147517 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4936 0.4127 0.4312 0.5762 0.3090 0.5264 0.5426 0.4881 0.4785 0.5006 0.4210 0.4545 0.5331 0.2862 0.5278 0.5643 0.5224 het 4199.97 245 12 52635360 . G A 4199.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.351;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0875;MQ=59.05;MQ0=0;MQRankSum=-1.022;QD=17.14;ReadPosRankSum=-1.101;VQSLOD=3.0498;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,141:245:99:3600,0,2596 12 52639302 52639302 G C exonic KRT7 nonsynonymous SNV KRT7:NM_005556:exon7:c.G1091C:p.G364A 0.89 0.98 0.85 0.91 0.82 0.87 0.8372 0.9512 0.9128 0.8946 0.8497 0.7934 0.8245 0.8547 0.85 0.94 0.8 0.92 0.82 rs2608009 COSM5618482 1(breast) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.165 0.175 N 1.000 0.200 P -3.85 0.000 N -1.01 0.762 T 3.6 0.001 N 0.043 0.023 -0.915 0.463 T 0.000 0.000 T . . . 0.337 0.127 6.050 0.638 0.071 0.165 0.192 N c -1.155 -0.856 1.000 0.747 0.758 0.990 0 3.43 0.382 4.077 0.571 0.067 0.174 1.000 0.715 0.418 0.257 15.086 0.717 . ENSG00000258279.2 Skin_Not_Sun_Exposed_Suprapubic 0.8406 0.9515 0.9076 0.8408 0.8950 0.8420 0.7942 0.8132 0.8537 0.8595 0.9501 0.8723 0.8344 0.8770 0.8515 0.8085 0.8289 hom 6397.82 203 12 52639302 . G C 6397.82 Mask AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.0538;MQ=58.95;MQ0=0;QD=31.52;VQSLOD=5.8409;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,201:203:99:6397,517,0 12 52681925 52681925 A C exonic KRT81 nonsynonymous SNV KRT81:NM_002281:exon5:c.T743G:p.L248R 0.94 0.99 0.92 1. 0.85 0.9 0.8753 0.9708 0.9350 0.9972 0.8644 0.8302 0.8822 0.8954 0.88 0.97 0.83 0.97 0.87 rs6580873 COSM5907609 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.366 N 0.003 0.436 P -1.905 0.002 N -1.05 0.767 T 2.82 0.002 N 0.054 0.036 -0.926 0.448 T 0.000 0.000 T . . . -0.721 0.044 0.065 0.694 0.087 0.015 0.049 N c -1.092 -1.069 1.000 0.747 0.616 0.391 0 2.73 0.311 -0.097 0.109 -0.031 0.126 0.000 0.063 0.257 0.229 3.376 0.068 . . . 0.8773 0.9745 0.9329 0.8388 0.9971 0.8642 0.8312 0.8658 0.8929 0.8948 0.9714 0.9161 0.8411 0.9988 0.8641 0.8466 0.8855 hom 5427.28 199 12 52681925 . A C 5427.28 Mask AC=2;AF=1.00;AN=2;DP=199;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7439;MQ=43.57;MQ0=5;QD=27.27;VQSLOD=2.7060;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,196:199:99:5388,502,0 12 52708565 52708565 A G exonic KRT83 synonymous SNV KRT83:NM_002282:exon9:c.T1332C:p.D444D 0.71 0.87 0.58 0.68 0.64 0.69 0.6855 0.8577 0.6034 0.6752 0.6928 0.6758 0.6898 0.6759 0.73 0.86 0.66 0.66 0.61 rs2857670 COSM3931660 1(urinary_tract);1(thyroid) Benign Beaded_hair RCV000404121.1 MedGen:OMIM:Orphanet:SNOMED_CT C0546966:158000:ORPHA573:69488000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6537 0.8565 0.5663 0.6180 0.6559 0.6610 0.6536 0.6484 0.6630 0.7048 0.8489 0.6304 0.6623 0.6741 0.6565 0.6449 0.6398 hom 341.67 13 12 52708565 . A G 341.67 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=26.28;VQSLOD=6.3540;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:30.09:375,30,0 12 52709880 52709880 A G exonic KRT83 synonymous SNV KRT83:NM_002282:exon7:c.T1059C:p.A353A 0.38 0.5 0.32 0.19 0.41 0.41 0.3783 0.4808 0.2450 0.2003 0.3345 0.4046 0.3867 0.4160 0.43 0.48 0.4 0.4 0.46 rs2852468 COSM147520 1(stomach);1(thyroid) Benign Beaded_hair RCV000297929.1 MedGen:OMIM:Orphanet:SNOMED_CT C0546966:158000:ORPHA573:69488000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3720 0.4831 0.2533 0.3445 0.2018 0.3509 0.4119 0.3796 0.4225 0.4052 0.4833 0.3305 0.3767 0.2063 0.3463 0.4017 0.3801 hom 2304.35 75 12 52709880 . A G 2304.35 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=50.40;MQ0=2;QD=30.72;VQSLOD=3.9491;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2337,192,0 12 52709883 52709883 T C exonic KRT83 synonymous SNV KRT83:NM_002282:exon7:c.A1056G:p.E352E 0.38 0.5 0.32 0.19 0.41 0.41 0.3784 0.4814 0.2450 0.2004 0.3350 0.4046 0.3875 0.4161 0.42 0.47 0.39 0.4 0.48 rs2248473 COSM147521 1(stomach);1(thyroid) Benign Beaded_hair RCV000357062.1 MedGen:OMIM:Orphanet:SNOMED_CT C0546966:158000:ORPHA573:69488000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3720 0.4827 0.2535 0.3444 0.2016 0.3511 0.4119 0.3799 0.4226 0.4054 0.4833 0.3305 0.3767 0.2063 0.3464 0.4021 0.3801 hom 2295.29 72 12 52709883 . T C 2295.29 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=51.10;MQ0=2;QD=31.88;VQSLOD=5.0469;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2328,189,0 12 52710309 52710309 G A exonic KRT83 synonymous SNV KRT83:NM_002282:exon6:c.C984T:p.N328N 0.38 0.5 0.32 0.19 0.41 0.41 0.3828 0.4888 0.2472 0.2023 0.3371 0.4092 0.3907 0.4168 0.44 0.49 0.41 0.39 0.51 rs2257286 COSM147523 1(stomach);1(biliary_tract) Benign Beaded_hair RCV000269553.1 MedGen:OMIM:Orphanet:SNOMED_CT C0546966:158000:ORPHA573:69488000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3755 0.4895 0.2550 0.3449 0.2027 0.3533 0.4164 0.3815 0.4233 0.4090 0.4881 0.3309 0.3808 0.2066 0.3468 0.4058 0.3843 hom 4810.50 160 12 52710309 . G A 4810.50 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8055;MQ=53.38;MQ0=6;QD=30.07;VQSLOD=3.2771;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:6,154:160:99:4810,385,0 12 52710715 52710715 G A exonic KRT83 synonymous SNV KRT83:NM_002282:exon5:c.C843T:p.A281A 0.38 0.5 0.32 0.19 0.41 0.41 0.3828 0.4892 0.2466 0.2025 0.3375 0.4092 0.3899 0.4167 0.44 0.49 0.41 0.4 0.51 rs2857669 COSM147524 1(stomach);1(thyroid) Benign Beaded_hair RCV000379595.1 MedGen:OMIM:Orphanet:SNOMED_CT C0546966:158000:ORPHA573:69488000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3754 0.4895 0.2547 0.3450 0.2028 0.3533 0.4163 0.3813 0.4234 0.4071 0.4861 0.3325 0.3818 0.2051 0.3454 0.4036 0.3845 hom 7909.05 236 12 52710715 . G A 7909.05 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.629;DP=236;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6389;MQ=58.46;MQ0=0;MQRankSum=1.481;QD=33.51;ReadPosRankSum=1.437;VQSLOD=7.3491;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,235:236:99:7879,590,0 12 52710721 52710721 G C exonic KRT83 nonsynonymous SNV KRT83:NM_002282:exon5:c.C837G:p.I279M 0.36 0.47 0.3 0.19 0.39 0.4 0.3624 0.4576 0.2363 0.2031 0.3220 0.3821 0.3667 0.4098 0.41 0.46 0.38 0.39 0.46 rs2852464 COSM147525 1(stomach);1(prostate);1(thyroid) Benign Beaded_hair RCV000285091.1 MedGen:OMIM:Orphanet:SNOMED_CT C0546966:158000:ORPHA573:69488000 . . . . . . 0.008 0.586 D 0.765 0.418 P 0.841 0.584 P 0.446 0.126 U 0.996 0.232 P 2.89 0.840 M -2.68 0.904 D -2.38 0.524 N 0.227 0.278 -1.097 0.045 T 0.000 0.000 T . . . 3.767 0.510 23.4 0.994 0.605 0.827 0.416 D c -0.034 -0.249 0.998 0.365 0.516 0.203 0 -0.295 0.121 0.342 0.195 -0.756 0.034 0.946 0.326 0.003 0.074 8.922 0.346 . ENSG00000170523.3|ENSG00000170523.3|ENSG00000205426.6|ENSG00000170523.3|ENSG00000170442.7|ENSG00000170442.7|ENSG00000170442.7|ENSG00000170442.7|ENSG00000170523.3 Brain_Anterior_cingulate_cortex_BA24|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Lung|Muscle_Skeletal|Testis|Thyroid|Thyroid 0.3551 0.4595 0.2430 0.3077 0.2028 0.3372 0.3890 0.3559 0.4158 0.3847 0.4552 0.3182 0.3567 0.2066 0.3311 0.3814 0.3612 hom 8327.02 242 12 52710721 . G C 8327.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.703;DP=242;DS;Dels=0.00;FS=3.101;HRun=1;HaplotypeScore=4.6347;MQ=58.57;MQ0=0;MQRankSum=1.488;QD=34.41;ReadPosRankSum=0.841;VQSLOD=3.9865;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,240:242:99:8299,619,0 12 52711549 52711549 G A exonic KRT83 synonymous SNV KRT83:NM_002282:exon4:c.C666T:p.C222C 0.38 0.5 0.32 0.19 0.41 0.41 0.3833 0.4891 0.2471 0.2026 0.3375 0.4094 0.3907 0.4185 0.44 0.49 0.42 0.4 0.43 rs2857667 COSM147526 1(stomach);1(thyroid) Benign\x2cLikely benign|Likely benign Beaded_hair\x2cBeaded_hair|not_provided RCV000394404.1\x2cRCV000307853.1|RCV000425816.1 MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0546966:158000:ORPHA573:69488000\x2cC0546966:158000:ORPHA573:69488000|CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3758 0.4895 0.2549 0.3450 0.2030 0.3535 0.4166 0.3817 0.4249 0.4090 0.4881 0.3333 0.3859 0.2077 0.3467 0.4056 0.3830 hom 5546.82 168 12 52711549 . G A 5546.82 Mask AC=2;AF=1.00;AN=2;DP=168;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8464;MQ=58.82;MQ0=0;QD=33.02;VQSLOD=5.7929;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,168:168:99:5546,469,0 12 52713088 52713088 G A exonic KRT83 nonsynonymous SNV KRT83:NM_002282:exon2:c.C445T:p.R149C 0.13 0.16 0.058 0.08 0.1 0.21 0.1190 0.1431 0.0570 0.0803 0.1033 0.1135 0.1060 0.1965 0.12 0.15 0.11 0.13 0.11 rs2857663 COSM4986197 2(soft_tissue);1(pancreas) Benign Beaded_hair RCV000348373.1 MedGen:OMIM:Orphanet:SNOMED_CT C0546966:158000:ORPHA573:69488000 . . . . . . 0.03 0.453 D 0.067 0.222 B 0.077 0.270 B 0.048 0.232 U 1.000 0.494 D 2.025 0.556 M -2.54 0.895 D -4.72 0.800 D 0.306 0.366 -0.757 0.576 T 0.010 0.037 T . . . 5.490 0.746 26.2 0.998 0.918 0.981 0.793 D c 0.344 0.413 1.000 0.747 0.598 0.340 0 4.39 0.520 7.879 0.856 0.953 0.551 1.000 0.715 0.996 0.625 12.453 0.548 . ENSG00000170523.3|ENSG00000170442.7|ENSG00000170523.3 Brain_Cortex|Thyroid|Thyroid 0.1141 0.1404 0.0569 0.0495 0.0758 0.1095 0.1172 0.1047 0.1993 0.1184 0.1378 0.0871 0.04 0.0766 0.1105 0.1162 0.1283 het 2220.27 171 12 52713088 . G A 2220.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.561;DP=171;DS;Dels=0.00;FS=3.865;HRun=0;HaplotypeScore=4.8458;MQ=59.62;MQ0=0;MQRankSum=2.481;QD=12.98;ReadPosRankSum=0.091;VQSLOD=4.3822;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,79:171:99:2250,0,2435 12 52774235 52774235 A G exonic KRT84 nonsynonymous SNV KRT84:NM_033045:exon7:c.T1336C:p.C446R 0.83 0.95 0.85 0.75 0.73 0.82 0.7876 0.9309 0.8682 0.7664 0.7471 0.7529 0.7676 0.8094 0.81 0.93 0.76 0.67 0.8 rs951773 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.057 0.225 N 0.026 0.390 P -2.765 0.000 N -0.78 0.736 T 6.29 0.000 N 0.042 0.022 -0.956 0.400 T 0.000 0.000 T . . . 0.924 0.182 10.22 0.851 0.152 0.114 0.165 N c -1.035 -0.723 1.000 0.467 0.520 0.210 0 4.04 0.461 2.387 0.438 0.104 0.200 0.991 0.370 0.751 0.322 7.821 0.283 . ENSG00000257829.1|ENSG00000170442.7 Thyroid|Thyroid 0.7860 0.9343 0.8601 0.7162 0.7540 0.7540 0.7556 0.7701 0.8078 0.8066 0.9263 0.8393 0.7881 0.7729 0.7427 0.7574 0.7546 hom 5765.89 193 12 52774235 . A G 5765.89 Mask AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5640;MQ=59.81;MQ0=0;QD=29.88;VQSLOD=8.1397;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,193:193:99:5765,463,0 12 52788928 52788928 G A exonic KRT82 nonsynonymous SNV KRT82:NM_033033:exon9:c.C1373T:p.T458M 0.34 0.34 0.37 0.065 0.47 0.46 0.4221 0.3581 0.2800 0.0760 0.4733 0.4835 0.4144 0.4749 0.44 0.36 0.48 0.3 0.57 rs2658658 COSM3753339 1(large_intestine) . . . . . . . . . . . 0.15 0.246 T 0.999 0.764 D 0.854 0.591 P 0.022 0.268 N 1.000 0.090 P 2.42 0.702 M -1.64 0.825 D -1.01 0.266 N 0.113 0.123 -0.973 0.367 T 0.000 0.000 T . . . 3.784 0.512 23.4 0.996 0.764 0.131 0.175 N c -0.298 -0.372 0.128 0.170 0.497 0.185 0 3.84 0.433 1.882 0.390 0.137 0.221 0.230 0.244 0.003 0.074 7.932 0.289 . ENSG00000170523.3 Thyroid 0.4167 0.3539 0.2820 0.4526 0.0814 0.4857 0.4852 0.4337 0.4716 0.4174 0.3578 0.3517 0.4570 0.0860 0.4759 0.4765 0.4294 hom 2751.95 91 12 52788928 . G A 2751.95 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.24;MQ0=0;QD=30.24;VQSLOD=9.0209;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2785,223,0 12 52866060 52866060 C T exonic KRT6C nonsynonymous SNV KRT6C:NM_173086:exon2:c.G545A:p.R182Q 0.4 0.2 0.33 0.51 0.47 0.55 0.5144 0.2416 0.3699 0.6160 0.5162 0.5631 0.4924 0.5723 0.41 0.25 0.49 0.27 0.49 rs11608915 COSM5021759 1(bone) . . . . . . . . . . . 0.028 0.461 D 0.998 0.715 D 0.899 0.620 P 0.000 0.559 D 0.002 0.445 P 3.16 0.888 M -2.97 0.920 D -3.36 0.665 D 0.273 0.331 -1.273 0.000 T 0.000 0.000 T . . . 6.209 0.857 28.7 0.999 0.999 0.974 0.744 D c 0.422 0.258 0.112 0.167 0.487 0.133 0 2.12 0.262 7.617 0.821 0.919 0.430 1.000 0.715 0.906 0.385 11.195 0.477 . . . 0.5071 0.2390 0.3615 0.4899 0.6124 0.5214 0.5611 0.4957 0.5720 0.4523 0.2483 0.3935 0.5085 0.6210 0.5190 0.5581 0.5371 hom 5132.26 172 12 52866060 . C T 5132.26 Mask AC=2;AF=1.00;AN=2;DP=172;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9164;MQ=48.09;MQ0=10;QD=29.84;VQSLOD=3.8821;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:4,167:172:99:5131,418,0 12 52965173 52965173 T G exonic KRT74 nonsynonymous SNV KRT74:NM_175053:exon4:c.A813C:p.E271D 0.81 0.99 0.68 0.72 0.73 0.82 0.7449 0.9583 0.5596 0.7180 0.7530 0.7380 0.7450 0.7793 0.82 0.95 0.75 0.78 0.74 rs670741 COSM4147222 1(bone);1(thyroid) . . . . . . . . . . . 0.212 0.205 T 0.0 0.026 B 0.007 0.121 B 0.002 0.372 N 1.000 0.090 P 1.68 0.433 L -3.0 0.922 D -1.17 0.299 N 0.06 0.067 -0.953 0.406 T 0.000 0.000 T . . . 2.221 0.328 17.64 0.991 0.533 0.057 0.115 N c -0.718 -0.721 0.002 0.091 0.497 0.185 0 0.186 0.143 -0.902 0.042 -0.247 0.091 0.007 0.175 0.996 0.625 1.683 0.026 . . . 0.7327 0.9621 0.5748 0.6740 0.7172 0.7440 0.7438 0.7099 0.7738 0.7978 0.9522 0.6295 0.5894 0.7203 0.7385 0.7477 0.7362 het 1796.01 138 12 52965173 . T G 1796.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.531;DP=138;Dels=0.00;FS=9.122;HRun=0;HaplotypeScore=6.9615;MQ=59.67;MQ0=0;MQRankSum=-0.931;QD=13.01;ReadPosRankSum=-0.547;VQSLOD=4.0817;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,70:138:99:1826,0,1756 12 52965761 52965761 C T exonic KRT74 synonymous SNV KRT74:NM_175053:exon3:c.G714A:p.T238T 0.89 0.99 0.87 0.99 0.73 0.83 0.8006 0.9611 0.8844 0.9964 0.7702 0.7420 0.7797 0.7883 0.82 0.96 0.75 0.88 0.74 rs673449 COSM4147223 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7979 0.9649 0.8716 0.6808 0.9959 0.7605 0.7461 0.7567 0.7834 0.8216 0.9562 0.8353 0.6 0.9969 0.7566 0.7471 0.7587 het 3112.06 250 12 52965761 . C T 3112.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.098;DP=250;DS;Dels=0.00;FS=0.983;HRun=1;HaplotypeScore=3.6521;MQ=59.11;MQ0=0;MQRankSum=0.221;QD=12.45;ReadPosRankSum=-0.474;VQSLOD=6.1094;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3142,0,3052 12 52965782 52965782 T C exonic KRT74 synonymous SNV KRT74:NM_175053:exon3:c.A693G:p.E231E 0.81 0.99 0.68 0.72 0.73 0.82 0.7447 0.9574 0.5592 0.7177 0.7529 0.7379 0.7456 0.7790 0.82 0.95 0.75 0.77 0.74 rs673476 COSM4147224 2(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7325 0.9616 0.5747 0.6739 0.7168 0.7438 0.7438 0.7096 0.7737 0.7965 0.9515 0.6319 0.5894 0.7210 0.7381 0.7455 0.7332 het 2615.08 217 12 52965782 . T C 2615.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.740;DP=217;DS;Dels=0.00;FS=1.101;HRun=1;HaplotypeScore=7.3559;MQ=58.97;MQ0=0;MQRankSum=0.008;QD=12.05;ReadPosRankSum=0.270;VQSLOD=4.9584;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,101:217:99:2645,0,2930 12 52981442 52981442 C A exonic KRT72 nonsynonymous SNV KRT72:NM_001146226:exon6:c.G1157T:p.R386L,KRT72:NM_001146225:exon7:c.G1283T:p.R428L,KRT72:NM_080747:exon7:c.G1283T:p.R428L 0.18 0.097 0.15 0.066 0.24 0.36 0.2345 0.1331 0.1368 0.0914 0.2991 0.2546 0.2511 0.3339 0.22 0.14 0.26 0.13 0.28 rs11170183 COSM3927706 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 0.004 0.654 D 0.029 0.185 B 0.076 0.269 B 0.000 0.443 D 0.088 0.364 P 4.515 0.990 H -3.51 0.947 D -6.65 0.922 D 0.687 0.693 -0.903 0.477 T 0.001 0.004 T . . . 7.705 0.955 35 0.997 0.831 0.913 0.530 D c 0.343 0.349 1.000 0.418 0.649 0.455 0 4.03 0.459 1.907 0.393 0.848 0.348 0.976 0.346 0.986 0.517 14.110 0.645 Intermediate filament protein\x2c conserved site ENSG00000170486.6|ENSG00000170484.5|ENSG00000170486.6|ENSG00000170486.6|ENSG00000170486.6|ENSG00000170486.6 Adipose_Subcutaneous|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Testis|Whole_Blood 0.2334 0.1294 0.1349 0.2414 0.0943 0.3 0.2568 0.2327 0.3350 0.2196 0.1330 0.1444 0.1821 0.0981 0.3014 0.2671 0.25 het 3062.32 250 12 52981442 . C A 3062.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.611;DP=250;DS;Dels=0.00;FS=4.622;HRun=0;HaplotypeScore=7.9048;MQ=59.39;MQ0=0;MQRankSum=0.711;QD=12.25;ReadPosRankSum=-0.848;VQSLOD=3.8686;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3092,0,3789 12 52984620 52984620 C T exonic KRT72 synonymous SNV KRT72:NM_001146225:exon6:c.G1089A:p.Q363Q,KRT72:NM_080747:exon6:c.G1089A:p.Q363Q 0.18 0.097 0.15 0.066 0.24 0.36 0.2371 0.1336 0.1371 0.0917 0.2990 0.2558 0.2568 0.3599 0.22 0.14 0.26 0.13 0.28 rs12818575 COSM4419055 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2314 0.1293 0.1335 0.2375 0.0925 0.2991 0.2552 0.2306 0.3313 0.2195 0.1335 0.1459 0.18 0.0969 0.3011 0.2669 0.2485 het 1426.76 140 12 52984620 . C T 1426.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.494;DP=140;Dels=0.00;FS=5.189;HRun=1;HaplotypeScore=5.5694;MQ=58.90;MQ0=0;MQRankSum=1.935;QD=10.19;ReadPosRankSum=-0.979;VQSLOD=4.3369;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,58:140:99:1457,0,2275 12 52985293 52985293 A G exonic KRT72 synonymous SNV KRT72:NM_001146225:exon5:c.T918C:p.I306I,KRT72:NM_001146226:exon5:c.T918C:p.I306I,KRT72:NM_080747:exon5:c.T918C:p.I306I 0.37 0.19 0.24 0.57 0.36 0.52 0.3870 0.2455 0.2212 0.6036 0.3858 0.3825 0.3921 0.4978 0.34 0.26 0.38 0.25 0.43 rs12824366 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3830 0.2433 0.2170 0.4132 0.6096 0.3846 0.3829 0.3726 0.4978 0.3573 0.2490 0.2338 0.3725 0.6011 0.3792 0.3946 0.3719 het 1680.88 137 12 52985293 . A G 1680.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.510;DP=137;Dels=0.00;FS=5.217;HRun=0;HaplotypeScore=5.5295;MQ=57.60;MQ0=0;MQRankSum=0.738;QD=12.27;ReadPosRankSum=-2.148;VQSLOD=3.7193;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,73:137:99:1711,0,1817 12 52986187 52986187 T C exonic KRT72 nonsynonymous SNV KRT72:NM_001146225:exon4:c.A791G:p.Y264C,KRT72:NM_001146226:exon4:c.A791G:p.Y264C,KRT72:NM_080747:exon4:c.A791G:p.Y264C 0.37 0.19 0.24 0.57 0.36 0.52 0.3870 0.2454 0.2211 0.6037 0.3854 0.3824 0.3929 0.4978 0.34 0.26 0.38 0.25 0.43 rs12833456 COSM5618264 1(breast) . . . . . . . . . . . 0.01 0.599 D 0.013 0.154 B 0.098 0.289 B 0.120 0.191 N 0.909 0.275 P 3.475 0.927 M -2.64 0.902 D -7.31 0.945 D 0.435 0.490 -1.035 0.189 T 0.000 0.000 T . . . 5.447 0.739 26.1 0.988 0.467 0.395 0.260 N c -0.173 -0.186 0.127 0.170 0.497 0.185 0 3.67 0.411 0.372 0.201 0.052 0.162 0.003 0.159 0.989 0.536 11.078 0.471 . ENSG00000170486.6|ENSG00000170486.6|ENSG00000170486.6 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Testis 0.3830 0.2433 0.2166 0.4135 0.6098 0.3844 0.3831 0.3725 0.4977 0.3580 0.2501 0.2333 0.3742 0.6019 0.3789 0.3953 0.3707 het 1364.67 102 12 52986187 . T C 1364.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.779;DP=102;Dels=0.00;FS=4.044;HRun=0;HaplotypeScore=5.1919;MQ=60.00;MQ0=0;MQRankSum=-0.803;QD=13.38;ReadPosRankSum=-0.201;VQSLOD=4.5978;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,51:102:99:1395,0,1312 12 52992812 52992812 T C exonic KRT72 nonsynonymous SNV KRT72:NM_001146225:exon2:c.A511G:p.N171D,KRT72:NM_001146226:exon2:c.A511G:p.N171D,KRT72:NM_080747:exon2:c.A511G:p.N171D 0.37 0.19 0.24 0.57 0.36 0.52 0.3869 0.2454 0.2210 0.6043 0.3855 0.3823 0.3929 0.4976 0.34 0.26 0.38 0.25 0.43 rs11170187 COSM3998847 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.027 0.477 D 0.012 0.151 B 0.042 0.227 B 0.076 0.212 N 0.999 0.588 P 2.135 0.597 M -0.59 0.716 T -3.87 0.727 D 0.025 0.106 -0.965 0.382 T 0.000 0.000 T . . . 3.352 0.461 22.9 0.995 0.661 0.943 0.603 D c -0.053 0.023 0.113 0.167 0.497 0.185 0 4.08 0.467 4.030 0.567 1.058 0.762 0.862 0.304 0.673 0.303 8.680 0.332 . ENSG00000170486.6|ENSG00000170486.6|ENSG00000170486.6 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Testis 0.3831 0.2433 0.2169 0.4135 0.6095 0.3844 0.3832 0.3724 0.4978 0.3577 0.2496 0.2314 0.3742 0.6033 0.3794 0.3948 0.3706 het 3031.36 221 12 52992812 . T C 3031.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.501;DP=221;DS;Dels=0.00;FS=7.257;HRun=1;HaplotypeScore=9.3993;MQ=59.06;MQ0=0;MQRankSum=0.710;QD=13.72;ReadPosRankSum=-2.278;VQSLOD=3.3334;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,109:221:99:3061,0,2843 12 53045777 53045777 G A exonic KRT2 synonymous SNV KRT2:NM_000423:exon1:c.C150T:p.G50G 0.28 0.12 0.45 0.044 0.44 0.44 0.3951 0.1586 0.3696 0.0341 0.4879 0.4671 0.4082 0.4194 0.36 0.17 0.46 0.21 0.49 rs11835758 COSM3753359 1(thyroid);1(large_intestine) Benign Ichthyosis_bullosa_of_Siemens RCV000343399.1 MedGen:OMIM:Orphanet:SNOMED_CT C0432306:146800:ORPHA455:254169002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3958 0.1527 0.3808 0.4328 0.0324 0.4906 0.4645 0.4069 0.4158 0.3547 0.1673 0.3998 0.4338 0.0316 0.4802 0.4585 0.4600 het 815.15 79 12 53045777 . G A 815.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.650;DP=79;Dels=0.00;FS=3.171;HRun=0;HaplotypeScore=1.6988;MQ=57.11;MQ0=0;MQRankSum=1.683;QD=10.32;ReadPosRankSum=0.056;VQSLOD=3.6623;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,36:79:99:845,0,1012 12 53069014 53069014 T C exonic KRT1 nonsynonymous SNV KRT1:NM_006121:exon9:c.A1898G:p.K633R 0.28 0.022 0.25 0.58 0.33 0.27 0.3051 0.0580 0.2926 0.5945 0.3409 0.3114 0.3096 0.2755 0.22 0.068 0.3 0.29 0.27 rs14024 COSM3753360 1(thyroid);1(large_intestine) Benign|Benign Bullous_ichthyosiform_erythroderma|Palmoplantar_keratoderma\x2c_nonepidermolytic RCV000317034.1|RCV000373990.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM C0079153:113800:ORPHA312:254167000|C1833030:600962 . . . . . . 0.0 0.912 D 0.331 0.315 B 0.078 0.271 B . . . 0.984 0.248 P 1.32 0.331 L -1.78 0.837 D -0.59 0.176 N 0.094 0.094 -0.944 0.420 T 0.000 0.000 T . . . 0.156 0.109 4.209 0.907 0.193 0.669 0.330 D c -0.728 -0.618 0.001 0.074 0.497 0.185 0 2.33 0.279 0.673 0.247 1.011 0.635 0.097 0.225 0.800 0.336 4.743 0.123 Keratin type II cytoskeletal 1\x2c tail ENSG00000257700.1|ENSG00000167768.4 Testis|Whole_Blood 0.3091 0.0583 0.2847 0.3144 0.5924 0.3450 0.3085 0.3266 0.2721 0.2661 0.0658 0.3038 0.3113 0.5736 0.3558 0.3224 0.3166 het 2223.06 174 12 53069014 . T C 2223.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.739;DP=174;DS;Dels=0.00;FS=1.358;HRun=1;HaplotypeScore=2.8798;MQ=58.76;MQ0=0;MQRankSum=1.341;QD=12.78;ReadPosRankSum=1.087;VQSLOD=6.1748;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,83:174:99:2253,0,2370 12 53070121 53070121 T G exonic KRT1 synonymous SNV KRT1:NM_006121:exon7:c.A1413C:p.T471T 0.8 0.79 0.72 0.83 0.82 0.82 0.8073 0.7920 0.6898 0.8378 0.8541 0.8243 0.7996 0.7958 0.81 0.79 0.82 0.87 0.85 rs698170 . . not provided not_provided RCV000057058.1 MedGen CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8030 0.7984 0.6913 0.8212 0.8392 0.8546 0.8230 0.7963 0.7924 0.8209 0.7909 0.7578 0.8278 0.8377 0.8646 0.8295 0.8255 hom 4391.48 140 12 53070121 . T G 4391.48 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4942;MQ=58.86;MQ0=0;QD=31.37;VQSLOD=8.3998;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4391,337,0 12 53070145 53070145 G A exonic KRT1 synonymous SNV KRT1:NM_006121:exon7:c.C1389T:p.R463R 0.43 0.49 0.44 0.24 0.45 0.48 0.4434 0.4669 0.3681 0.2363 0.4747 0.4750 0.4383 0.4500 0.47 0.46 0.47 0.4 0.52 rs936958 . . not provided|Benign|Benign not_provided|Bullous_ichthyosiform_erythroderma|Palmoplantar_keratoderma\x2c_nonepidermolytic RCV000057057.1|RCV000297416.1|RCV000361470.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM CN221809|C0079153:113800:ORPHA312:254167000|C1833030:600962 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4394 0.4656 0.3761 0.4722 0.2389 0.4680 0.4752 0.4236 0.4493 0.4549 0.4644 0.4081 0.4603 0.2549 0.4676 0.4693 0.4734 het 1911.06 136 12 53070145 . G A 1911.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.836;DP=136;Dels=0.00;FS=1.371;HRun=0;HaplotypeScore=3.6552;MQ=59.07;MQ0=0;MQRankSum=1.083;QD=14.05;ReadPosRankSum=0.124;VQSLOD=5.5415;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,72:136:99:1941,0,1634 12 53086645 53086645 G A exonic KRT77 nonsynonymous SNV KRT77:NM_175078:exon6:c.C1100T:p.T367M 0.38 0.46 0.37 0.24 0.35 0.45 0.3699 0.4264 0.3247 0.2353 0.4231 0.3719 0.3573 0.4086 0.39 0.42 0.37 0.37 0.4 rs3782489 COSM3736063 1(skin) . . . . . . . . . . . 0.009 0.574 D 0.999 0.764 D 0.964 0.693 D . . . 1 0.090 P 3.12 0.881 M -2.48 0.891 D -4.09 0.748 D 0.04 0.043 -1.245 0.000 T 0.000 0.000 T . . . 3.033 0.425 22.3 0.997 0.822 0.189 0.202 N c -0.030 -0.332 0.005 0.108 0.497 0.185 0 1.41 0.214 2.186 0.420 0.133 0.217 0.092 0.224 0.004 0.083 8.836 0.341 . ENSG00000257700.1|ENSG00000167768.4 Testis|Whole_Blood 0.3678 0.4226 0.3316 0.3931 0.2377 0.4136 0.3717 0.3437 0.4022 0.3862 0.4210 0.3518 0.3673 0.2543 0.4081 0.3763 0.4027 het 2074.14 148 12 53086645 . G A 2074.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.944;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2593;MQ=59.12;MQ0=0;MQRankSum=2.971;QD=14.01;ReadPosRankSum=0.580;VQSLOD=3.9368;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,83:148:99:2104,0,1652 12 53088484 53088484 C T exonic KRT77 nonsynonymous SNV KRT77:NM_175078:exon5:c.G1006A:p.D336N 0.32 0.14 0.28 0.58 0.36 0.28 0.3395 0.1896 0.3136 0.5948 0.3721 0.3428 0.3400 0.2921 0.29 0.2 0.34 0.33 0.28 rs10783528 COSM3753364 1(large_intestine) . . . . . . . . . . . 0.051 0.393 T 0.382 0.326 B 0.039 0.223 B . . . 1 0.090 P 0.865 0.215 L -1.21 0.787 T -0.95 0.253 N 0.008 0.000 -0.918 0.459 T 0.000 0.000 T . . . 2.687 0.384 20.7 0.991 0.524 0.116 0.166 N c -0.825 -0.873 0.019 0.131 0.497 0.185 0 0.542 0.163 0.309 0.190 0.852 0.362 0.000 0.063 0.845 0.352 8.249 0.307 . ENSG00000257700.1|ENSG00000167768.4 Testis|Whole_Blood 0.3425 0.1921 0.3065 0.3558 0.5927 0.3740 0.3418 0.3590 0.2888 0.3260 0.1944 0.3341 0.34 0.5768 0.3822 0.3613 0.3340 het 1711.19 104 12 53088484 . C T 1711.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.739;DP=104;Dels=0.00;FS=0.823;HRun=1;HaplotypeScore=2.6488;MQ=59.78;MQ0=0;MQRankSum=-1.679;QD=16.45;ReadPosRankSum=-1.163;VQSLOD=5.2462;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,62:104:99:1741,0,1150 12 53090190 53090190 C T exonic KRT77 synonymous SNV KRT77:NM_175078:exon3:c.G783A:p.R261R 0.41 0.48 0.41 0.25 0.4 0.47 0.4078 0.4548 0.3444 0.2483 0.4489 0.4238 0.3951 0.4256 0.43 0.45 0.42 0.37 0.46 rs7138818 COSM147528 1(breast);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4049 0.4520 0.3537 0.4259 0.2506 0.4426 0.4245 0.3814 0.4228 0.4264 0.4530 0.3854 0.4040 0.2651 0.4401 0.4269 0.4397 het 1879.51 147 12 53090190 . C T 1879.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.951;DP=147;Dels=0.00;FS=3.110;HRun=1;HaplotypeScore=4.9161;MQ=58.99;MQ0=0;MQRankSum=0.198;QD=12.79;ReadPosRankSum=2.327;VQSLOD=4.7259;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,72:147:99:1910,0,1896 12 53091566 53091566 C A exonic KRT77 nonsynonymous SNV KRT77:NM_175078:exon2:c.G658T:p.G220C 0.41 0.48 0.41 0.25 0.4 0.47 0.4080 0.4548 0.3447 0.2464 0.4498 0.4236 0.3954 0.4279 0.43 0.45 0.42 0.36 0.46 rs1567759 COSM1362578 2(pancreas);1(skin);1(thyroid) . . . . . . . . . . . 0.033 0.443 D 0.999 0.764 D 0.976 0.719 D . . . 1 0.258 P 1.435 0.361 L -2.43 0.887 D -1.96 0.454 N 0.123 0.138 -1.048 0.149 T 0.000 0.000 T . . . 2.499 0.362 19.46 0.989 0.477 0.059 0.118 N c -0.806 -1.051 0.003 0.100 0.526 0.212 0 -2.05 0.069 -1.858 0.017 -0.761 0.034 0.000 0.063 0.000 0.016 7.074 0.242 . ENSG00000257700.1|ENSG00000167768.4 Testis|Whole_Blood 0.4050 0.4515 0.3536 0.4257 0.2477 0.4428 0.4247 0.3815 0.4247 0.4254 0.4498 0.3819 0.4040 0.2624 0.4407 0.4272 0.4386 het 4105.03 250 12 53091566 . C A 4105.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.215;DP=250;DS;Dels=0.00;FS=0.493;HRun=0;HaplotypeScore=9.6540;MQ=59.30;MQ0=0;MQRankSum=0.727;QD=16.42;ReadPosRankSum=-0.953;VQSLOD=3.8576;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,113:250:99:3364,0,3737 12 53096913 53096913 G A exonic KRT77 synonymous SNV KRT77:NM_175078:exon1:c.C306T:p.T102T 0.97 0.9 0.99 1. 1. 1. 0.9907 0.9044 0.9927 1 1 0.9994 0.9956 0.9998 0.97 0.9 1. 0.97 0.66 rs1625862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9927 0.9023 0.9944 0.9985 1 1 0.9995 0.9943 0.9999 0.9742 0.9088 0.9940 1 1 1 0.9997 0.9980 hom 982.67 28 12 53096913 . G A 982.67 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9148;MQ=56.62;MQ0=0;QD=35.10;VQSLOD=4.4268;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:84.24:1016,84,0 12 53164848 53164848 G A exonic KRT76 synonymous SNV KRT76:NM_015848:exon7:c.C1419T:p.N473N 0.42 0.36 0.4 0.39 0.59 0.37 0.4955 0.3665 0.3781 0.3972 0.6052 0.5674 0.5011 0.3755 0.49 0.37 0.56 0.47 0.55 rs7313832 COSM1179680 1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4964 0.3686 0.3844 0.4652 0.3896 0.6148 0.5742 0.5186 0.3797 0.5166 0.3826 0.4281 0.5033 0.3767 0.6202 0.5898 0.5328 het 2439.02 195 12 53164848 . G A 2439.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.899;DP=195;DS;Dels=0.00;FS=1.204;HRun=0;HaplotypeScore=6.9903;MQ=58.18;MQ0=0;MQRankSum=0.240;QD=12.51;ReadPosRankSum=0.750;VQSLOD=4.1302;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,87:195:99:2469,0,2778 12 53165940 53165940 C T exonic KRT76 nonsynonymous SNV KRT76:NM_015848:exon5:c.G1075A:p.A359T 0.6 0.46 0.68 0.55 0.85 0.53 0.7306 0.4691 0.6517 0.5317 0.8170 0.8355 0.7660 0.5922 0.71 0.47 0.83 0.67 0.87 rs6580904 COSM1179681 1(liver);1(prostate);1(thyroid) . . . . . . . . . . . 0.114 0.286 T 0.986 0.596 D 0.771 0.551 P 0.000 0.439 D 0.012 0.407 P 2.525 0.740 M -2.25 0.873 D -3.38 0.667 D 0.193 0.236 -0.925 0.448 T 0.000 0.000 T . . . 4.632 0.621 24.5 0.999 0.948 0.313 0.241 N c 0.131 0.004 0.014 0.125 0.497 0.185 0 4.42 0.526 0.677 0.248 0.848 0.348 0.040 0.208 0.501 0.271 14.703 0.686 . ENSG00000063046.13 Muscle_Skeletal 0.7347 0.4678 0.6631 0.7982 0.5204 0.8277 0.8387 0.7843 0.5938 0.7139 0.4852 0.6878 0.8212 0.5019 0.8213 0.8391 0.7889 het 1824.88 150 12 53165940 . C T 1824.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.002;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2383;MQ=59.72;MQ0=0;MQRankSum=1.103;QD=12.17;ReadPosRankSum=0.318;VQSLOD=4.0229;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,74:150:99:1855,0,1962 12 53165949 53165949 C T exonic KRT76 nonsynonymous SNV KRT76:NM_015848:exon5:c.G1066A:p.E356K 0.14 0.082 0.097 0.097 0.1 0.32 0.1355 0.1032 0.0881 0.1050 0.1157 0.1197 0.1419 0.2791 0.12 0.11 0.12 0.054 0.11 rs12296548 . . . . . . . . . . . . . 0.011 0.555 D 1.0 0.899 D 0.995 0.818 D 0.000 0.447 D 0.000 0.588 P 3.695 0.947 H -2.99 0.921 D -3.8 0.717 D 0.349 0.410 -0.589 0.653 T 0.119 0.418 T . . . 6.627 0.910 32 0.999 0.992 0.977 0.763 D c 0.671 0.544 1.000 0.747 0.497 0.185 0 4.42 0.526 6.120 0.711 0.848 0.348 1.000 0.715 0.348 0.245 17.898 0.888 . . . 0.1304 0.1033 0.0867 0.1357 0.1071 0.1093 0.1166 0.1177 0.2711 0.1079 0.0981 0.1002 0.1325 0.1042 0.1155 0.1109 0.1263 het 2074.85 153 12 53165949 . C T 2074.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.349;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8661;MQ=59.73;MQ0=0;MQRankSum=0.876;QD=13.56;ReadPosRankSum=-1.308;VQSLOD=5.5328;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,80:153:99:2105,0,1802 12 53171001 53171001 G A exonic KRT76 synonymous SNV KRT76:NM_015848:exon1:c.C75T:p.S25S 0.047 0.012 0.056 0.002 0.11 0.067 0.0973 0.0217 0.0389 0.0002 0.1553 0.1313 0.1004 0.0762 0.093 0.025 0.13 0.054 0.09 rs11170272 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0978 0.0192 0.0412 0.0969 0.0003 0.1623 0.1332 0.1017 0.0778 0.1015 0.0266 0.0453 0.0861 0 0.1669 0.1427 0.1245 het 1995.83 114 12 53171001 . G A 1995.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.309;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6754;MQ=59.23;MQ0=0;MQRankSum=-0.571;QD=17.51;ReadPosRankSum=2.640;VQSLOD=3.7096;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,70:114:99:2026,0,1087 12 53186088 53186088 G C exonic KRT3 nonsynonymous SNV KRT3:NM_057088:exon5:c.C1123G:p.R375G 0.38 0.38 0.45 0.14 0.67 0.27 0.5234 0.4176 0.3372 0.1199 0.6182 0.6602 0.5508 0.3384 0.58 0.43 0.66 0.3 . rs3887954 COSM5959775 1(thyroid) . . . . . . . . . . . 0.001 0.784 D 0.996 0.670 D 0.944 0.663 D 0.175 0.173 N 1 0.090 P 3.975 0.967 H -3.21 0.933 D -5.13 0.832 D 0.169 0.204 -0.941 0.426 T 0.000 0.000 T . . . 4.216 0.565 23.9 0.996 0.744 0.156 0.188 N c 0.049 -0.210 0.011 0.122 0.487 0.094 0 0.697 0.172 0.334 0.194 -0.039 0.125 0.001 0.137 0.001 0.043 14.767 0.691 . . . 0.5230 0.4093 0.3602 0.6683 0.1170 0.6172 0.6664 0.5732 0.3409 0.5555 0.4263 0.4399 0.6954 0.1123 0.6314 0.6638 0.5616 het 851.99 72 12 53186088 . G C 851.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.289;DP=72;Dels=0.00;FS=0.892;HRun=1;HaplotypeScore=0.9159;MQ=58.10;MQ0=0;MQRankSum=0.935;QD=11.83;ReadPosRankSum=-0.130;VQSLOD=5.2950;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,32:72:99:882,0,970 12 53186122 53186122 G A exonic KRT3 synonymous SNV KRT3:NM_057088:exon5:c.C1089T:p.R363R 0.79 0.8 0.79 0.91 0.82 0.61 0.7935 0.8103 0.7581 0.9203 0.8185 0.8136 0.7826 0.6502 0.81 0.81 0.81 0.72 . rs4432093 COSM5959779 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7939 0.8069 0.7570 0.8308 0.9237 0.8157 0.8151 0.7932 0.6504 0.8159 0.8209 0.7733 0.8543 0.9271 0.8259 0.8013 0.8006 hom 2589.56 85 12 53186122 . G A 2589.56 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9947;MQ=58.40;MQ0=0;QD=30.47;VQSLOD=8.0296;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2623,211,0 12 53189696 53189696 C G exonic KRT3 nonsynonymous SNV KRT3:NM_057088:exon1:c.G131C:p.G44A 0.14 0.29 0.12 0.002 0.16 0.058 0.1478 0.2871 0.0811 0.0003 0.1628 0.1728 0.1419 0.0794 0.21 0.27 0.18 0.15 . rs28721426 COSM3753365 1(kidney);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.188 0.213 T 0.998 0.715 D 0.89 0.614 P 0.000 0.477 D 0.282 0.336 P 1.625 0.417 L -3.28 0.937 D -1.81 0.425 N 0.193 0.236 -1.319 0.000 T 0.000 0.000 T . . . 0.684 0.159 8.723 0.786 0.119 0.966 0.698 D c 0.176 0.104 1.000 0.747 0.497 0.185 0 4.94 0.645 3.495 0.528 0.931 0.441 0.173 0.238 0.005 0.090 16.049 0.805 Keratin type II head ENSG00000186442.6|ENSG00000172867.3 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.1440 0.2815 0.0857 0.1773 0.0005 0.1699 0.1740 0.1542 0.0806 0.1931 0.2745 0.1050 0.1667 0.0006 0.1677 0.1807 0.1520 het 1266.18 94 12 53189696 . C G 1266.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.900;DP=94;Dels=0.00;FS=1.902;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=2.132;QD=13.47;ReadPosRankSum=-0.572;VQSLOD=5.2385;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,46:94:99:1296,0,1311 12 53200999 53200999 T A exonic KRT4 nonsynonymous SNV KRT4:NM_002272:exon9:c.A1417T:p.S473C . . . . . . 8.282e-06 0 0 0 0 1.499e-05 0 0 0.0001 . 0.0001 . . rs367751022 . . . . . . . . . . . . . 0.044 0.410 D 0.947 0.515 P 0.319 0.399 B 0.086 0.206 N 1 0.090 N 1.415 0.357 L -3.09 0.926 D -1.39 0.344 N 0.242 0.296 -0.341 0.738 T 0.499 0.811 T 0.060 0.678 D -0.423 0.060 0.340 0.701 0.089 0.066 0.125 N c -0.889 -1.013 0.000 0.070 0.497 0.185 0 0.656 0.169 -0.829 0.045 -0.916 0.026 0.000 0.063 0.001 0.043 7.876 0.286 . . . 1.625e-05 0 0 0 0 0 3.583e-05 0 0 6.46e-05 0.0001 0 0 0 0 6.668e-05 0 het 1321.43 98 12 53200999 . T A 1321.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.176;DP=98;Dels=0.00;FS=0.789;HRun=0;HaplotypeScore=1.9367;MQ=59.53;MQ0=0;MQRankSum=0.110;QD=13.48;ReadPosRankSum=-0.508;VQSLOD=5.0908;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,48:98:99:1351,0,1464 12 53217701 53217701 C A exonic KRT79 synonymous SNV KRT79:NM_175834:exon6:c.G1116T:p.L372L 0.48 0.26 0.56 0.51 0.51 0.67 0.5092 0.2951 0.5652 0.5206 0.4695 0.5046 0.4678 0.6356 0.44 0.31 0.51 0.5 0.48 rs10876354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5145 0.2932 0.5570 0.4611 0.5198 0.4750 0.5104 0.5058 0.6376 0.4480 0.3022 0.5443 0.4533 0.5143 0.4671 0.5130 0.4857 het 664.26 81 12 53217701 . C A 664.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.655;DP=81;Dels=0.00;FS=0.948;HRun=1;HaplotypeScore=1.7333;MQ=59.25;MQ0=0;MQRankSum=1.125;QD=8.20;ReadPosRankSum=1.397;VQSLOD=6.0827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,28:81:99:694,0,1473 12 53227803 53227803 A G exonic KRT79 nonsynonymous SNV KRT79:NM_175834:exon1:c.T242C:p.L81S 0.74 0.84 0.61 0.8 0.6 0.78 0.6311 0.8013 0.6484 0.7884 0.5129 0.5692 0.5850 0.7304 0.65 0.8 0.58 0.75 0.39 rs2638497 COSM4147230 3(thyroid) . . . . . . . . . . . 0.419 0.098 T 0.0 0.026 B 0.0 0.013 B 0.967 0.082 N 1 0.090 P -2.545 0.001 N 2.21 0.184 T 2.03 0.004 N 0.058 0.041 -1.024 0.224 T 0.000 0.000 T . . . -0.507 0.055 0.211 0.462 0.036 0.002 0.014 N c -1.234 -1.164 0.002 0.094 0.497 0.185 0 3.39 0.378 0.836 0.270 -0.285 0.084 0.000 0.063 0.000 0.016 8.572 0.326 . . . 0.6261 0.8094 0.6375 0.5513 0.7845 0.5147 0.5742 0.6023 0.7304 0.6454 0.8018 0.6394 0.5497 0.7776 0.5103 0.5776 0.5868 het 415.77 47 12 53227803 . A G 415.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.002;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9084;MQ=57.97;MQ0=0;MQRankSum=0.444;QD=8.85;ReadPosRankSum=-0.163;VQSLOD=4.6096;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,19:47:99:446,0,834 12 53242440 53242440 A G exonic KRT78 nonsynonymous SNV KRT78:NM_173352:exon1:c.T275C:p.L92P 0.52 0.3 0.55 0.52 0.58 0.72 0.5469 0.3368 0.5786 0.5249 0.4341 0.5534 0.5344 0.6890 0.48 0.34 0.55 0.49 0.5 rs2013335 COSM3736064 1(skin);1(thyroid) . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.998 0.875 D . . . 0.000 0.588 P 4.085 0.973 H -1.2 0.785 T -6.27 0.906 D 0.42 0.477 -0.972 0.368 T 0.000 0.000 T . . . 5.902 0.809 27.5 0.999 0.966 0.974 0.742 D c 0.865 0.779 0.930 0.270 0.487 0.133 0 5.18 0.710 7.568 0.814 1.140 0.893 1.000 0.715 0.849 0.354 14.153 0.648 Keratin type II head . . 0.5479 0.3348 0.5707 0.5382 0.5190 0.4411 0.5581 0.5375 0.6911 0.4801 0.3532 0.5740 0.5397 0.5168 0.4346 0.5533 0.4918 het 1453.11 122 12 53242440 . A G 1453.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.448;DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8645;MQ=59.34;MQ0=0;MQRankSum=0.318;QD=11.91;ReadPosRankSum=0.611;VQSLOD=6.3223;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,57:122:99:1483,0,1834 12 53294381 53294381 T C exonic KRT8 synonymous SNV KRT8:NM_002273:exon4:c.A681G:p.L227L,KRT8:NM_001256282:exon5:c.A765G:p.L255L,KRT8:NM_001256293:exon5:c.A681G:p.L227L 0.57 0.4 0.62 0.6 0.53 0.76 0.5530 0.4368 0.7226 0.6311 0.4170 0.5088 0.5066 0.7020 0.49 0.44 0.51 0.45 0.41 rs8608 COSM3753369 1(thyroid);1(large_intestine) not provided not_provided RCV000056941.1 MedGen CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5555 0.4414 0.6975 0.4856 0.6262 0.4212 0.5113 0.5363 0.7009 0.4828 0.4500 0.6384 0.5201 0.6266 0.4234 0.4919 0.4641 het 1366.07 113 12 53294381 . T C 1366.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.331;DP=113;Dels=0.00;FS=1.667;HRun=0;HaplotypeScore=1.8332;MQ=57.59;MQ0=0;MQRankSum=0.815;QD=12.09;ReadPosRankSum=1.576;VQSLOD=4.8093;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,52:113:99:1396,0,1629 12 53433089 53433089 C A exonic EIF4B synonymous SNV EIF4B:NM_001330654:exon12:c.C1527A:p.G509G,EIF4B:NM_001300821:exon13:c.C1659A:p.G553G,EIF4B:NM_001417:exon13:c.C1644A:p.G548G 0.98 0.94 0.99 1. 1. 1. 0.9955 0.9518 0.9959 1 1 0.9996 0.9977 1 0.99 0.96 1. 0.98 1. rs1548204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9523 0.9971 1 0.9999 1 0.9996 0.9969 1.0000 0.9882 0.9589 0.9964 1 1 1 0.9998 1 hom 1054.81 38 12 53433089 . C A 1054.81 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7820;MQ=56.56;MQ0=0;QD=27.76;VQSLOD=4.2877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:38:84.26:1088,84,0 12 53433486 53433486 C T exonic EIF4B synonymous SNV EIF4B:NM_001330654:exon13:c.C1638T:p.S546S,EIF4B:NM_001300821:exon14:c.C1770T:p.S590S,EIF4B:NM_001417:exon14:c.C1755T:p.S585S 0.75 0.45 0.91 0.79 0.91 0.84 0.8694 0.5193 0.9453 0.8370 0.8238 0.9190 0.8552 0.8532 0.81 0.53 0.93 0.71 0.89 rs8916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8751 0.5057 0.9411 0.9365 0.8337 0.8274 0.9222 0.8865 0.8526 0.7933 0.5311 0.9318 0.9470 0.8414 0.8270 0.9169 0.8633 hom 820.25 30 12 53433486 . C T 820.25 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=27.34;VQSLOD=8.1905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:63.21:853,63,0 12 53442956 53442956 G C exonic TNS2 nonsynonymous SNV TNS2:NM_015319:exon1:c.G29C:p.R10T 0.37 0.19 0.45 0.13 0.72 0.46 0.5647 0.2397 0.3738 0.1217 0.7026 0.7014 0.6417 0.5244 0.55 0.25 0.7 0.36 0.52 rs12369033 COSM1747082 1(urinary_tract);1(large_intestine) . . . . . . . . . . . 0.021 0.491 D 0.13 0.255 B 0.052 0.241 B 0.472 0.049 N 0.977 0.588 P . . . -3.4 0.943 D -0.23 0.107 N 0.043 0.025 -0.941 0.425 T 0.000 0.000 T . . . 0.062 0.100 3.204 0.916 0.203 0.364 0.253 N c -0.335 -0.299 1.000 0.747 0.495 0.175 0 2.75 0.313 1.275 0.325 1.045 0.669 0.993 0.376 0.944 0.418 6.914 0.234 . ENSG00000257337.2|ENSG00000111077.13|ENSG00000257337.2|ENSG00000111077.13|ENSG00000111077.13|ENSG00000111077.13|ENSG00000111077.13|ENSG00000111077.13|ENSG00000111077.13|ENSG00000111077.13|ENSG00000111077.13|ENSG00000257337.2|ENSG00000111077.13|ENSG00000257337.2|ENSG00000257337.2|ENSG00000111077.13|ENSG00000111077.13|ENSG00000111077.13|ENSG00000111077.13 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.5717 0.2330 0.3840 0.6528 0.1133 0.7060 0.7052 0.6190 0.5274 0.5411 0.2590 0.4652 0.6556 0.1079 0.6998 0.7118 0.6291 het 614.42 40 12 53442956 . G C 614.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.812;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.03;MQ0=0;MQRankSum=-1.040;QD=15.36;ReadPosRankSum=0.982;VQSLOD=6.0576;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,27:40:99:644,0,326 12 53445677 53445677 T C exonic TNS2 synonymous SNV TNS2:NM_015319:exon2:c.T144C:p.V48V,TNS2:NM_170754:exon2:c.T114C:p.V38V 0.0036 0.0008 0.0072 . 0.006 0.0061 0.0037 0.0009 0.0025 0 0.0027 0.0039 0.0033 0.0082 0.0038 0.0014 0.005 . 0.016 rs147085802 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0037 0.0011 0.0021 0.0003 0 0.0029 0.0045 0.0018 0.0083 0.0038 0.0024 0.0024 0 0 0.0037 0.0051 0.0041 het 2389.77 195 12 53445677 . T C 2389.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.255;DP=195;Dels=0.00;FS=1.126;HRun=0;HaplotypeScore=6.1380;MQ=59.66;MQ0=0;MQRankSum=1.054;QD=12.26;ReadPosRankSum=0.225;VQSLOD=3.2006;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,92:195:99:2420,0,2574 12 53457585 53457585 C T exonic TNS2 synonymous SNV TNS2:NM_015319:exon29:c.C4179T:p.L1393L,TNS2:NM_170754:exon29:c.C4149T:p.L1383L,TNS2:NM_198316:exon29:c.C3777T:p.L1259L 0.0032 . 0.0072 . 0.0089 0.002 0.0059 0.0015 0.0010 0 0.0246 0.0073 0.0110 0.0013 0.0059 0.0018 0.008 . 0.041 rs117928258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0069 0.0014 0.0013 0.0004 0 0.0272 0.0086 0.0053 0.0012 0.0086 0.0014 0.0036 0 0 0.0269 0.0098 0.0102 het 3087.17 217 12 53457585 . C T 3087.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.820;DP=217;DS;Dels=0.00;FS=1.130;HRun=3;HaplotypeScore=8.6983;MQ=59.38;MQ0=0;MQRankSum=0.929;QD=14.23;ReadPosRankSum=-1.617;VQSLOD=3.4116;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,109:217:99:3117,0,2952 12 53509933 53509933 C T exonic SOAT2 nonsynonymous SNV SOAT2:NM_003578:exon7:c.C761T:p.T254I 0.26 0.42 0.21 0.32 0.17 0.13 0.1921 0.3686 0.1392 0.3011 0.2267 0.1731 0.1751 0.1251 0.22 0.35 0.15 0.28 0.22 rs2272296 COSM3753370 1(large_intestine) . . . . . . . . . . . 0.419 0.098 T 0.002 0.090 B 0.007 0.121 B 0.034 0.248 N 0.985 0.248 P 0.015 0.080 N -0.79 0.737 T 2.23 0.003 N 0.017 0.083 -0.978 0.354 T 0.000 0.000 T . . . 1.330 0.224 12.43 0.597 0.061 0.012 0.042 N c -1.096 -1.009 0.995 0.336 0.428 0.059 0 -2.65 0.057 0.340 0.195 -0.308 0.079 0.001 0.137 0.579 0.285 11.847 0.515 . ENSG00000167780.7|ENSG00000167780.7|ENSG00000167780.7|ENSG00000167780.7|ENSG00000167780.7|ENSG00000167780.7|ENSG00000167780.7|ENSG00000139631.14|ENSG00000167780.7|ENSG00000167780.7|ENSG00000167780.7|ENSG00000139651.9|ENSG00000167780.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.1883 0.3735 0.1572 0.2036 0.2983 0.2223 0.1654 0.1751 0.1249 0.2431 0.3571 0.1754 0.2285 0.3072 0.2084 0.1838 0.2173 het 2068.68 157 12 53509933 . C T 2068.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.539;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1163;MQ=59.35;MQ0=0;MQRankSum=1.216;QD=13.18;ReadPosRankSum=0.378;VQSLOD=5.5696;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,80:157:99:2099,0,1964 12 53586536 53586536 C T exonic ITGB7 nonsynonymous SNV ITGB7:NM_000889:exon13:c.G1885A:p.G629S 0.0088 0.0015 0.025 . 0.0089 0.016 0.0082 0.0013 0.0266 0 0.0189 0.0026 0.0055 0.0224 0.0022 0.0007 0.0029 0.011 0.016 rs61754162 . . . . . . . . . . . . . 0.126 0.272 T 1.0 0.899 D 0.98 0.732 D 0.001 0.434 D 1.000 0.810 D 3.02 0.865 M -3.52 0.947 D -3.1 0.635 D 0.61 0.633 0.317 0.878 D 0.679 0.889 D . . . 4.859 0.652 24.9 0.998 0.885 0.883 0.478 D c 0.421 0.330 1.000 0.747 0.672 0.522 0 5.13 0.696 2.442 0.443 0.931 0.441 0.992 0.373 0.207 0.219 17.828 0.885 EGF-like domain\x2c extracellular . . 0.0095 0.0011 0.0245 0.0002 0 0.0181 0.0025 0.0069 0.0252 0.0050 0.0015 0.0215 0 0 0.0180 0.0035 0.0071 het 1549.62 139 12 53586536 . C T 1549.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.618;DP=139;Dels=0.00;FS=3.090;HRun=0;HaplotypeScore=2.8926;MQ=59.67;MQ0=0;MQRankSum=-0.274;QD=11.15;ReadPosRankSum=-0.699;VQSLOD=5.4099;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,61:139:99:1580,0,2107 12 53647373 53647373 T C exonic MFSD5 synonymous SNV MFSD5:NM_001170790:exon2:c.T1075C:p.L359L,MFSD5:NM_032889:exon2:c.T754C:p.L252L 0.46 0.26 0.41 0.6 0.46 0.63 0.4810 0.2929 0.5249 0.5998 0.4205 0.4662 0.4879 0.5902 0.41 0.3 0.47 0.41 0.49 rs10876422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4831 0.2903 0.4968 0.4942 0.6015 0.4315 0.4678 0.4892 0.5855 0.4252 0.3037 0.5084 0.4801 0.5958 0.4281 0.4695 0.4508 het 1335.65 135 12 53647373 . T C 1335.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.587;DP=135;Dels=0.00;FS=9.649;HRun=0;HaplotypeScore=3.2921;MQ=59.27;MQ0=0;MQRankSum=2.113;QD=9.89;ReadPosRankSum=-1.423;VQSLOD=3.7317;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,51:135:99:1366,0,2218 12 53662624 53662624 C A exonic ESPL1 nonsynonymous SNV ESPL1:NM_012291:exon2:c.C74A:p.A25D 0.89 0.98 0.8 1. 0.67 0.93 0.7766 0.9485 0.8783 0.9988 0.6902 0.6826 0.7756 0.8913 0.77 0.94 0.68 0.86 0.66 rs6580942 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.363 N 1 0.090 P -2.48 0.001 N 2.85 0.106 T 5.77 0.005 N 0.034 0.430 -0.969 0.374 T 0.000 0.000 T . . . 0.803 0.171 9.484 0.733 0.100 0.021 0.061 N c -1.112 -0.853 1.000 0.747 0.726 0.872 0 4.79 0.608 3.463 0.526 0.242 0.267 0.996 0.391 0.865 0.361 11.304 0.484 . ENSG00000135476.7|ENSG00000135476.7|ENSG00000135476.7|ENSG00000135476.7|ENSG00000123349.9|ENSG00000135476.7|ENSG00000135476.7|ENSG00000135476.7|ENSG00000170374.4 Brain_Caudate_basal_ganglia|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis 0.7711 0.9533 0.8565 0.7261 0.9992 0.6848 0.6743 0.7431 0.8885 0.7790 0.9456 0.8278 0.7267 0.9981 0.6771 0.6843 0.7173 het 588.05 39 12 53662624 . C A 588.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.699;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.775;QD=15.08;ReadPosRankSum=1.400;VQSLOD=11.0990;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,24:39:99:618,0,394 12 53670545 53670545 C A exonic ESPL1 nonsynonymous SNV ESPL1:NM_012291:exon8:c.C1842A:p.S614R 0.63 0.4 0.6 0.82 0.64 0.77 0.6561 0.4313 0.6736 0.8059 0.6617 0.6451 0.6804 0.7430 0.57 0.43 0.64 0.58 0.58 rs1318648 COSM4147242 1(thyroid) . . . . . . . . . . . 0.198 0.205 T 0.998 0.715 D 0.896 0.618 P 0.000 0.629 D 0.946 0.266 P 1.79 0.469 L 2.53 0.140 T -2.0 0.461 N 0.207 0.448 -1.062 0.112 T 0.000 0.000 T . . . 5.777 0.790 27.0 0.997 0.801 0.800 0.395 D c 0.199 0.098 0.999 0.375 0.707 0.730 0 1.25 0.204 -0.104 0.108 0.934 0.450 0.012 0.185 0.999 0.750 8.705 0.333 . ENSG00000135476.7|ENSG00000135476.7|ENSG00000135476.7|ENSG00000123349.9|ENSG00000135476.7|ENSG00000135476.7|ENSG00000170374.4 Brain_Caudate_basal_ganglia|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Testis 0.6575 0.4260 0.6507 0.7008 0.8046 0.6656 0.6400 0.6604 0.7390 0.6010 0.4448 0.6671 0.69 0.7964 0.6577 0.6480 0.6640 het 1630.12 116 12 53670545 . C A 1630.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.391;DP=116;Dels=0.00;FS=4.400;HRun=0;HaplotypeScore=1.9994;MQ=59.04;MQ0=0;MQRankSum=0.085;QD=14.05;ReadPosRankSum=0.659;VQSLOD=6.1030;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,62:116:99:1660,0,1473 12 53681883 53681883 A T exonic ESPL1 nonsynonymous SNV ESPL1:NM_012291:exon19:c.A4304T:p.K1435M 0.88 0.56 0.97 1. 1. 1. 0.9633 0.6050 0.9816 0.9999 1 0.9980 0.9878 0.9995 0.87 0.61 1. 0.81 0.92 rs1110719 . . . . . . . . . . . . . 0.013 0.538 D 0.761 0.416 P 0.275 0.383 B 0.286 0.148 N 0.032 0.386 P 2.19 0.618 M 2.52 0.142 T -1.53 0.372 N 0.216 0.538 -0.993 0.320 T 0.000 0.000 T . . . 4.429 0.593 24.2 0.993 0.570 0.618 0.313 D c 0.039 0.028 1.000 0.517 0.672 0.522 0 3.65 0.408 2.591 0.456 1.199 0.960 0.996 0.391 0.488 0.269 6.541 0.214 . ENSG00000094914.8|ENSG00000094914.8|ENSG00000094914.8|ENSG00000094914.8|ENSG00000094914.8 Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Muscularis|Nerve_Tibial|Thyroid 0.9706 0.5983 0.9780 0.9981 1 1 0.9979 0.9821 0.9994 0.8908 0.6177 0.9797 0.9901 1 1 0.9985 0.9898 hom 2102.53 64 12 53681883 . A T 2102.53 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.85;VQSLOD=13.5095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2136,175,0 12 53682326 53682326 G A exonic ESPL1 synonymous SNV ESPL1:NM_012291:exon20:c.G4551A:p.G1517G 0.65 0.43 0.63 0.82 0.64 0.77 0.6606 0.4475 0.7299 0.8044 0.6592 0.6424 0.6762 0.7405 0.57 0.44 0.64 0.58 0.34 rs1110720 COSM1756781 2(urinary_tract);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6629 0.4410 0.7028 0.6796 0.8062 0.6636 0.6380 0.6659 0.7330 0.6052 0.4569 0.7136 0.6567 0.7981 0.6564 0.6474 0.6691 het 388.96 42 12 53682326 . G A 388.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.477;DP=42;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5326;MQ=57.88;MQ0=0;MQRankSum=1.094;QD=9.26;ReadPosRankSum=1.149;VQSLOD=5.0548;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,17:42:99:419,0,693 12 53682457 53682457 G A exonic ESPL1 nonsynonymous SNV ESPL1:NM_012291:exon20:c.G4682A:p.R1561Q 0.24 0.26 0.34 0.13 0.34 0.13 0.2897 0.2738 0.2465 0.1546 0.3427 0.3389 0.2933 0.1816 0.32 0.29 0.34 0.26 0.33 rs56358776 COSM3998854 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.688 0.043 T 0.0 0.026 B 0.0 0.013 B 0.232 0.035 N 1 0.090 P 0.225 0.096 N 2.76 0.115 T -0.26 0.112 N 0.028 0.017 -0.942 0.424 T 0.000 0.000 T . . . -1.104 0.028 0.010 0.531 0.048 0.016 0.052 N c -1.770 -1.886 1.000 0.517 0.719 0.830 0 -7.11 0.014 -2.389 0.011 -1.588 0.009 0.000 0.063 0.000 0.016 9.716 0.392 . ENSG00000135476.7|ENSG00000135476.7|ENSG00000135476.7|ENSG00000123349.9|ENSG00000135476.7|ENSG00000189182.5|ENSG00000135476.7|ENSG00000135476.7|ENSG00000170374.4 Brain_Caudate_basal_ganglia|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis 0.2901 0.2693 0.2684 0.3138 0.1521 0.3377 0.3385 0.2978 0.1834 0.3040 0.2693 0.2590 0.3311 0.1481 0.3463 0.3329 0.3094 het 2015.67 145 12 53682457 . G A 2015.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.052;DP=145;Dels=0.00;FS=0.617;HRun=0;HaplotypeScore=5.9633;MQ=57.47;MQ0=0;MQRankSum=1.348;QD=13.90;ReadPosRankSum=-0.109;VQSLOD=3.7661;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,79:145:99:2046,0,1436 12 53682986 53682986 C T exonic ESPL1 synonymous SNV ESPL1:NM_012291:exon21:c.C4821T:p.C1607C 0.45 0.34 0.58 0.39 0.61 0.42 0.5362 0.3707 0.4411 0.3849 0.6154 0.6086 0.5617 0.4604 0.53 0.38 0.61 0.38 0.57 rs3214023 COSM4415816 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5387 0.3646 0.4689 0.5738 0.3849 0.6110 0.6094 0.5529 0.4651 0.5215 0.3704 0.4821 0.5728 0.3826 0.6120 0.6002 0.5878 het 2713.14 250 12 53682986 . C T 2713.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.469;DP=250;DS;Dels=0.00;FS=1.037;HRun=0;HaplotypeScore=5.7305;MQ=59.35;MQ0=0;MQRankSum=1.793;QD=10.85;ReadPosRankSum=-1.670;VQSLOD=4.4239;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:2743,0,4021 12 53686703 53686703 G A exonic ESPL1 nonsynonymous SNV ESPL1:NM_012291:exon30:c.G6110A:p.R2037H 0.97 0.89 0.99 1. 1. 1. 0.9899 0.8907 0.9953 0.9999 1 0.9996 0.9989 0.9997 0.96 0.9 1. 0.92 1. rs1056685 . . . . . . . . . . . . . 0.532 0.070 T 0.004 0.112 B 0.005 0.104 B 0.000 0.481 N 0.871 0.282 P -0.71 0.018 N 2.75 0.116 T 0.79 0.019 N 0.042 0.074 -0.997 0.309 T 0.000 0.000 T . . . 2.234 0.330 17.73 0.809 0.129 0.396 0.260 N c -1.062 -0.846 1.000 0.462 0.707 0.730 0 2.61 0.301 2.318 0.432 -0.121 0.113 0.754 0.289 0.720 0.314 7.827 0.283 SEPARIN core domain ENSG00000094914.8|ENSG00000094914.8 Artery_Tibial|Nerve_Tibial 0.9919 0.8859 0.9950 0.9999 1 1 0.9996 0.9958 0.9997 0.9689 0.8907 0.9976 1 1 1 0.9997 0.9959 hom 2589.80 83 12 53686703 . G A 2589.80 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=31.20;VQSLOD=9.6262;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2623,211,0 12 53693532 53693532 A G exonic C12orf10 nonsynonymous SNV C12orf10:NM_021640:exon1:c.A11G:p.Q4R 0.95 0.81 0.99 1. 1. 1. 0.9845 0.8229 0.9930 0.9994 1 0.9996 0.9966 0.9996 0.94 0.82 1. . 0.86 rs1534284 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.111 0.194 N 1 0.090 P -0.895 0.014 N 1.03 0.405 T 0.38 0.036 N 0.008 0.000 -0.954 0.403 T 0.000 0.000 T . . . -1.844 0.010 0.002 0.327 0.019 0.001 0.004 N c -1.547 -1.528 1.000 0.747 0.442 0.072 0 -0.122 0.128 -0.650 0.054 -0.272 0.086 0.000 0.063 0.000 0.016 3.389 0.068 . ENSG00000094914.8|ENSG00000094914.8|ENSG00000094914.8 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial 0.9875 0.8166 0.9928 0.9999 0.9997 1 0.9995 0.9940 0.9997 0.9495 0.8217 0.9928 1 1 1 0.9998 0.9959 hom 1687.82 56 12 53693532 . A G 1687.82 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=30.14;VQSLOD=9.0440;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1721,156,0 12 53693533 53693533 A C exonic C12orf10 nonsynonymous SNV C12orf10:NM_021640:exon1:c.A12C:p.Q4H 0.95 0.81 0.99 1. 1. 1. 0.9845 0.8239 0.9930 0.9994 1 0.9996 0.9966 0.9996 0.94 0.82 1. . 0.87 rs1534283 . . . . . . . . . . . . . 0.11 0.291 T 0.0 0.026 B 0.0 0.013 B 0.111 0.194 N 1 0.090 P 0 0.065 N 0.95 0.433 T 0.38 0.036 N 0.007 0.001 -1.037 0.182 T 0.000 0.000 T . . . -0.851 0.038 0.033 0.778 0.116 0.001 0.004 N c -1.614 -1.678 1.000 0.747 0.442 0.072 0 -4.55 0.032 -2.155 0.014 -0.891 0.027 0.000 0.063 0.000 0.016 3.142 0.060 . ENSG00000094914.8|ENSG00000094914.8|ENSG00000094914.8 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial 0.9876 0.8173 0.9928 0.9999 0.9997 1 0.9995 0.9941 0.9997 0.9494 0.8214 0.9928 1 1 1 0.9998 0.9959 hom 1994.40 57 12 53693533 . A C 1994.40 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=34.99;VQSLOD=9.7975;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:2027,159,0 12 53700848 53700848 C T exonic C12orf10 nonsynonymous SNV C12orf10:NM_021640:exon7:c.C1046T:p.T349I 0.97 0.89 0.99 1. 1. 1. 0.9899 0.8917 0.9956 0.9999 1 0.9994 0.9989 0.9997 0.96 0.9 1. 0.92 1. rs1534282 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.208 P -2.755 0.000 N 1.48 0.317 T 3.83 0.001 N 0.427 0.625 -0.948 0.413 T 0.000 0.000 T . . . 1.716 0.267 14.50 0.899 0.186 0.042 0.096 N c -0.713 -0.425 1.000 0.462 0.707 0.730 0 5.03 0.669 4.016 0.566 0.090 0.195 1.000 0.715 0.995 0.604 9.323 0.370 . ENSG00000094914.8|ENSG00000094914.8 Artery_Tibial|Nerve_Tibial 0.9918 0.8855 0.9953 0.9999 1 1 0.9994 0.9954 0.9998 0.9678 0.8868 0.9976 1 1 1 0.9998 0.9959 hom 5734.38 181 12 53700848 . C T 5734.38 Mask AC=2;AF=1.00;AN=2;DP=181;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7621;MQ=59.34;MQ0=0;QD=31.68;VQSLOD=8.0441;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5734,454,0 12 53700860 53700860 A G exonic C12orf10 nonsynonymous SNV C12orf10:NM_021640:exon7:c.A1058G:p.H353R 0.95 0.81 0.99 1. 1. 1. 0.9840 0.8244 0.9934 0.9999 1 0.9996 0.9967 0.9996 0.94 0.82 1. 0.9 0.98 rs711316 COSM3721008 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.568 0.090 T 0.0 0.026 B 0.0 0.013 B 0.143 0.182 N 1.000 0.182 P -1.18 0.009 N 1.08 0.394 T 1.67 0.008 N 0.016 0.405 -0.946 0.417 T 0.000 0.000 T . . . -0.166 0.079 1.291 0.830 0.140 0.091 0.147 N c -1.458 -1.320 0.829 0.246 0.707 0.730 0 -2.92 0.052 -0.442 0.069 -0.958 0.024 0.003 0.159 0.954 0.431 13.828 0.627 . ENSG00000094914.8|ENSG00000094914.8|ENSG00000094914.8 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial 0.9874 0.8188 0.9929 0.9999 1 1 0.9995 0.9942 0.9997 0.9496 0.8225 0.9928 1 1 1 0.9999 0.9959 hom 5298.95 171 12 53700860 . A G 5298.95 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6828;MQ=59.32;MQ0=0;QD=30.99;VQSLOD=8.7844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:171:99:5298,430,0 12 53702253 53702256 CAGA - exonic AAAS frameshift deletion AAAS:NM_001173466:exon11:c.1045_1048del:p.S349Rfs*31,AAAS:NM_015665:exon12:c.1144_1147del:p.S382Rfs*31 . . . . . . 1.647e-05 0 0 0 0 1.498e-05 0 6.056e-05 0.0002 . 0.0004 . . rs770214071 . . Pathogenic not_provided RCV000255826.1 MedGen CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.249e-05 0 2.978e-05 0 0 0 5.371e-05 0 3.249e-05 3.233e-05 0.0001 0 0 0 0 0 0 het 5469.34 245 12 53702252 . TCAGA T 5469.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=11.918;DP=245;DS;FS=2.232;HRun=0;HaplotypeScore=1143.7843;MQ=57.97;MQ0=0;MQRankSum=-1.857;QD=22.32;ReadPosRankSum=1.289;set=variant2 GT:AD:DP:GQ:PL 0/1:134,111:245:99:5469,0,9080 12 53703021 53703021 G A exonic AAAS synonymous SNV AAAS:NM_001173466:exon8:c.C756T:p.F252F,AAAS:NM_015665:exon9:c.C855T:p.F285F 0.92 0.69 0.98 1. 0.99 1. 0.9745 0.7275 0.9868 0.9999 1 0.9987 0.9901 0.9995 0.91 0.73 1. 0.88 1. rs1546808 . . Likely benign|Benign not_specified|Achalasia-Addisonianism-Alacrima_(Triple-A)_Syndrome RCV000116212.2|RCV000378616.1 MedGen|MedGen CN169374|CN239157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9798 0.7208 0.9863 0.9981 1 1 0.9988 0.9892 0.9995 0.9227 0.7283 0.9905 0.9901 1 1 0.9995 0.9919 hom 6390.58 185 12 53703021 . G A 6390.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.283;DP=185;DS;Dels=0.00;FS=8.427;HRun=2;HaplotypeScore=8.4459;MQ=59.17;MQ0=0;MQRankSum=1.638;QD=34.54;ReadPosRankSum=1.339;VQSLOD=3.6424;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,184:185:99:6356,487,0 12 53722098 53722098 A G exonic SP7 synonymous SNV SP7:NM_152860:exon2:c.T1128C:p.H376H,SP7:NM_001173467:exon3:c.T1128C:p.H376H,SP7:NM_001300837:exon3:c.T1074C:p.H358H 0.96 0.86 0.99 1. 1. 1. 0.9866 0.8489 0.9937 0.9995 1 0.9994 0.9978 0.9998 0.95 0.86 1. 0.92 . rs7138938 COSM4147243 1(thyroid) Benign|Benign Osteogenesis_Imperfecta\x2c_Recessive|not_specified RCV000341939.1|RCV000373817.1 MedGen|MedGen CN239451|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9887 0.8437 0.9925 0.9999 0.9998 1 0.9993 0.9943 0.9998 0.9590 0.8570 0.9905 1 0.9994 1 0.9994 0.9949 hom 1645.84 53 12 53722098 . A G 1645.84 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.05;VQSLOD=14.0117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1679,150,0 12 53722128 53722128 G A exonic SP7 synonymous SNV SP7:NM_152860:exon2:c.C1098T:p.S366S,SP7:NM_001173467:exon3:c.C1098T:p.S366S,SP7:NM_001300837:exon3:c.C1044T:p.S348S 0.9 0.7 0.98 0.95 0.99 0.95 0.9582 0.7158 0.9840 0.9629 0.9991 0.9865 0.9709 0.9502 0.9 0.73 0.98 0.85 . rs7139272 COSM4147244 1(thyroid) Benign|Benign not_specified|Osteogenesis_Imperfecta\x2c_Recessive RCV000317268.1|RCV000405203.1 MedGen|MedGen CN169374|CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9632 0.7099 0.9813 0.9905 0.9625 0.9986 0.9857 0.9760 0.9521 0.9135 0.7257 0.9714 0.9967 0.9538 0.9997 0.9884 0.9868 hom 2352.57 75 12 53722128 . G A 2352.57 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.686;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3046;MQ=59.38;MQ0=0;MQRankSum=0.346;QD=31.37;ReadPosRankSum=0.531;VQSLOD=9.7150;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,74:75:99:2386,196,0 12 54109659 54109659 C T exonic CALCOCO1 nonsynonymous SNV CALCOCO1:NM_001143682:exon8:c.G923A:p.R308K,CALCOCO1:NM_020898:exon9:c.G1178A:p.R393K 0.17 0.12 0.14 0.27 0.17 0.18 0.1731 0.1298 0.1347 0.3078 0.2385 0.1514 0.2379 0.2144 0.14 0.13 0.14 0.2 0.25 rs3741659 . . . . . . . . . . . . . 0.385 0.110 T 0.219 0.285 B 0.054 0.244 B 0.000 0.445 D 0.919 0.292 P 0.695 0.181 N 3.04 0.088 T 0.01 0.090 N 0.141 0.165 -0.889 0.491 T 0.000 0.000 T . . . 2.360 0.345 18.56 0.983 0.392 0.674 0.331 D c -0.147 0.060 0.064 0.153 0.706 0.609 0 4.91 0.638 3.150 0.501 0.935 0.490 1.000 0.715 0.695 0.308 7.543 0.268 Calcium binding and coiled-coil domain-like . . 0.1732 0.1289 0.1336 0.1820 0.3007 0.2370 0.1460 0.1816 0.2155 0.1709 0.1324 0.1527 0.1656 0.3014 0.2364 0.1622 0.2138 het 1791.01 106 12 54109659 . C T 1791.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.759;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8401;MQ=58.68;MQ0=0;MQRankSum=1.757;QD=16.90;ReadPosRankSum=3.104;VQSLOD=3.8032;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,64:106:99:1821,0,1149 12 54109733 54109733 A G exonic CALCOCO1 synonymous SNV CALCOCO1:NM_001143682:exon8:c.T849C:p.S283S,CALCOCO1:NM_020898:exon9:c.T1104C:p.S368S 0.42 0.42 0.37 0.53 0.3 0.46 0.3460 0.4066 0.3810 0.5636 0.3400 0.2767 0.3971 0.4492 0.31 0.41 0.26 0.41 0.35 rs3741658 COSM5442598;COSM5442599 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3468 0.4146 0.3784 0.3227 0.5646 0.3337 0.2713 0.3310 0.4501 0.3456 0.4077 0.3600 0.3179 0.5692 0.3365 0.2883 0.3276 het 912.62 66 12 54109733 . A G 912.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.161;DP=66;Dels=0.00;FS=0.979;HRun=0;HaplotypeScore=5.2993;MQ=59.37;MQ0=0;MQRankSum=0.899;QD=13.83;ReadPosRankSum=-1.148;VQSLOD=5.2770;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:32,33:66:99:943,0,804 12 54367061 54367061 T G exonic HOXC11 synonymous SNV HOXC11:NM_014212:exon1:c.T36G:p.S12S 1. 1. 1. 1. 1. 1. 0.9998 0.9982 0.9997 1 1 1 1 1 1. 1. 1. 1. 0.98 rs4759315 COSM4147251 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9982 0.9999 1 1 1 1 1 1 0.9996 0.9986 1 1 1 1 1 1 hom 2982.61 95 12 54367061 . T G 2982.61 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8932;MQ=59.54;MQ0=0;QD=31.40;VQSLOD=8.6238;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3016,256,0 12 54394497 54394497 C T exonic HOXC9 synonymous SNV HOXC9:NM_006897:exon1:c.C525T:p.A175A 0.58 0.47 0.53 0.76 0.6 0.55 0.6682 0.6082 0.6213 0.7994 0.6663 0.6662 0.6717 0.6542 0.61 0.57 0.62 0.61 0.3 rs2241820 COSM3749220 1(liver);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5916 0.5227 0.5337 0.5787 0.7790 0.5474 0.5988 0.5944 0.5893 0.5507 0.4975 0.5406 0.5430 0.7960 0.5376 0.5598 0.5380 hom 598.24 19 12 54394497 . C T 598.24 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;QD=31.49;VQSLOD=8.9920;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:48.16:631,48,0 12 54422504 54422504 C T exonic HOXC6 nonsynonymous SNV HOXC6:NM_004503:exon1:c.C199T:p.R67W 0.0034 . 0.0014 . 0.011 0.0051 0.0117 0.0028 0.0035 0 0.0201 0.0163 0.0187 0.0070 0.012 0.0041 0.015 . 0.041 rs144307645 . . . . . . . . . . . . . 0.015 0.524 D 0.997 0.689 D 0.885 0.610 P 0.000 0.843 D 1 0.810 D 2.785 0.815 M -3.11 0.927 D -3.35 0.664 D 0.342 0.516 0.545 0.912 D 0.779 0.925 D . . . 7.162 0.944 34 0.999 0.962 0.945 0.613 D c 0.833 0.801 1.000 0.747 0.677 0.550 0 5.54 0.828 5.912 0.695 0.935 0.490 1.000 0.715 1.000 0.888 18.419 0.905 . . . 0.0111 0.0022 0.0040 0.0094 0 0.0187 0.0158 0.0133 0.0073 0.0149 0.0032 0.0107 0.0232 0 0.0200 0.0224 0.0112 het 1809.33 126 12 54422504 . C T 1809.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.369;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3898;MQ=59.78;MQ0=0;MQRankSum=-0.163;QD=14.36;ReadPosRankSum=0.466;VQSLOD=3.3893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,64:126:99:1839,0,1758 12 54799450 54799450 A G exonic ITGA5 synonymous SNV ITGA5:NM_002205:exon11:c.T1014C:p.D338D 1. 0.98 1. 1. 1. 1. 0.9987 0.9866 0.9993 0.9999 1 1.0000 0.9978 0.9998 0.99 0.99 1. 1. 1. rs1249378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9857 0.9993 1 0.9999 1 1.0000 0.9993 0.9997 0.9960 0.9860 0.9988 1 1 1 0.9999 1 hom 4509.76 161 12 54799450 . A G 4509.76 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3145;MQ=59.00;MQ0=0;QD=28.01;VQSLOD=8.3032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:4509,361,0 12 54905815 54905815 C G exonic NCKAP1L synonymous SNV NCKAP1L:NM_001184976:exon9:c.C717G:p.L239L,NCKAP1L:NM_005337:exon9:c.C867G:p.L289L 0.82 0.73 0.79 0.95 0.81 0.84 0.8169 0.7240 0.8196 0.9658 0.8586 0.8061 0.8117 0.8227 0.78 0.73 0.8 0.76 0.71 rs2458409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8185 0.7233 0.8143 0.7518 0.9686 0.8667 0.8057 0.7997 0.8225 0.8001 0.7257 0.8050 0.7367 0.9691 0.8658 0.8100 0.8122 hom 3743.94 121 12 54905815 . C G 3743.94 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.6173;MQ=59.38;MQ0=0;QD=30.94;VQSLOD=2.1877;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,120:121:99:3720,280,0 12 54911426 54911426 C T exonic NCKAP1L nonsynonymous SNV NCKAP1L:NM_001184976:exon12:c.C1055T:p.S352L,NCKAP1L:NM_005337:exon12:c.C1205T:p.S402L 0.076 0.088 0.12 0.068 0.063 0.051 0.0625 0.0989 0.0856 0.0500 0.0434 0.0599 0.0540 0.0488 0.077 0.11 0.062 0.12 0.057 rs2270581 COSM147539 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.078 0.349 T 0.003 0.102 B 0.002 0.063 B 0.962 0.082 N 0.041 0.381 P -0.345 0.033 N 1.48 0.317 T -2.0 0.461 N 0.038 0.078 -1.034 0.193 T 0.001 0.003 T . . . 3.012 0.422 22.3 0.993 0.600 0.767 0.373 D c -0.403 -0.209 0.453 0.206 0.672 0.522 0 3.82 0.430 1.393 0.339 0.935 0.490 0.990 0.367 1.000 0.888 7.995 0.292 . . . 0.0631 0.1008 0.0919 0.0335 0.0488 0.0438 0.0619 0.0594 0.0493 0.0683 0.0994 0.0837 0.0265 0.0458 0.0418 0.0598 0.0509 het 1623.60 135 12 54911426 . C T 1623.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.226;DP=135;Dels=0.00;FS=0.736;HRun=1;HaplotypeScore=1.6439;MQ=59.66;MQ0=0;MQRankSum=-0.275;QD=12.03;ReadPosRankSum=-1.201;VQSLOD=6.5196;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,60:135:99:1654,0,1828 12 54975837 54975837 T C exonic PPP1R1A nonsynonymous SNV PPP1R1A:NM_006741:exon5:c.A326G:p.E109G 0.97 0.89 0.99 1. 1. 1. 0.9922 0.9103 0.9962 1 1 0.9997 0.9978 0.9999 0.97 0.91 1. 0.95 . rs1249958 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9936 0.9081 0.9963 1 1 1 0.9997 0.9967 1 0.9744 0.9104 0.9928 1 1 1 0.9998 0.9959 hom 2096.43 67 12 54975837 . T C 2096.43 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=31.29;VQSLOD=9.0268;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2129,172,0 12 55356258 55356258 C T exonic TESPA1 nonsynonymous SNV TESPA1:NM_001351150:exon6:c.G797A:p.R266Q,TESPA1:NM_001351148:exon7:c.G1010A:p.R337Q,TESPA1:NM_001351151:exon7:c.G665A:p.R222Q,TESPA1:NM_001351152:exon7:c.G665A:p.R222Q,TESPA1:NM_001351153:exon7:c.G665A:p.R222Q,TESPA1:NM_001351154:exon7:c.G665A:p.R222Q,TESPA1:NM_001351155:exon7:c.G665A:p.R222Q,TESPA1:NM_014796:exon7:c.G1010A:p.R337Q,TESPA1:NM_001261844:exon8:c.G1010A:p.R337Q,TESPA1:NM_001098815:exon9:c.G1424A:p.R475Q,TESPA1:NM_001136030:exon9:c.G1424A:p.R475Q,TESPA1:NM_001351149:exon10:c.G1424A:p.R475Q 0.013 0.0015 0.014 0.001 0.045 0.0072 0.0256 0.0062 0.0193 0.0002 0.0156 0.0384 0.0167 0.0075 0.031 0.0077 0.041 . . rs61733025 COSM1362835;COSM1362836 1(large_intestine) . . . . . . . . . . . 0.389 0.174 T 0.005 0.119 B 0.002 0.063 B 0.742 0.064 N 1 0.090 N 0.345 0.112 N 0.88 0.460 T 0.14 0.368 N 0.042 0.083 -1.045 0.158 T 0.015 0.058 T . . . -0.165 0.079 1.292 0.444 0.034 0.002 0.014 N c -1.488 -1.538 0.351 0.197 0.707 0.730 0 -3.31 0.046 -3.619 0.005 -0.404 0.062 0.000 0.063 0.002 0.062 6.658 0.220 . . . 0.0268 0.0061 0.0235 0.0801 0.0002 0.0147 0.0380 0.0313 0.0063 0.0241 0.0087 0.0120 0.0762 0.0006 0.0140 0.0373 0.0297 het 2499.13 240 12 55356258 . C T 2499.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.822;DP=240;DS;Dels=0.00;FS=4.572;HRun=0;HaplotypeScore=6.1697;MQ=59.54;MQ0=0;MQRankSum=-0.211;QD=10.41;ReadPosRankSum=0.141;VQSLOD=4.3613;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:145,95:240:99:2529,0,3657 12 55368245 55368245 G A exonic TESPA1 synonymous SNV TESPA1:NM_001098815:exon2:c.C102T:p.A34A,TESPA1:NM_001136030:exon2:c.C102T:p.A34A,TESPA1:NM_001351149:exon3:c.C102T:p.A34A 0.41 0.25 0.23 0.7 0.23 0.65 0.3698 0.3034 0.3183 0.7378 0.2803 0.2722 0.3542 0.5833 0.21 0.24 0.2 0.4 . rs4758993 COSM3753375 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3015 0.2460 0.2564 0.3845 0.7184 0.1955 0.2026 0.2921 0.5479 0.2389 0.2427 0.2045 0.3742 0.7030 0.1860 0.1962 0.2679 het 175.27 26 12 55368245 . G A 175.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.417;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.306;QD=6.74;ReadPosRankSum=-0.472;VQSLOD=9.5423;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,8:26:99:205,0,440 12 55688267 55688267 G A exonic OR6C6 synonymous SNV OR6C6:NM_001005493:exon1:c.C750T:p.Y250Y 0.81 0.94 0.83 0.92 0.66 0.67 0.7315 0.9010 0.8512 0.9211 0.6066 0.6872 0.6678 0.6773 0.75 0.89 0.68 0.85 0.68 rs7308594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7292 0.9038 0.8405 0.7939 0.9275 0.6024 0.6763 0.7145 0.6753 0.7493 0.8969 0.8034 0.8046 0.9473 0.6196 0.6721 0.6888 hom 4613.78 144 12 55688267 . G A 4613.78 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=32.04;VQSLOD=9.6614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4613,364,0 12 55688894 55688894 T G exonic OR6C6 nonsynonymous SNV OR6C6:NM_001005493:exon1:c.A123C:p.L41F 0.0054 0.0015 0.0043 . 0.02 0.002 0.0130 0.0033 0.0043 0 0.0342 0.0180 0.0121 0.0034 0.013 0.0039 0.018 . 0.0082 rs117851256 COSM3753384 1(large_intestine) . . . . . . . . . . . 0.039 0.424 D 0.005 0.119 B 0.014 0.158 B 0.003 0.360 N 1 0.090 N 2.14 0.601 M 7.42 0.004 T -2.94 0.614 D 0.044 0.024 -0.863 0.511 T 0.001 0.002 T . . . 0.073 0.101 3.321 0.917 0.204 0.009 0.034 N c -1.233 -1.351 0.000 0.012 0.487 0.133 0 -2.14 0.067 -4.778 0.002 -0.293 0.083 0.000 0.063 0.001 0.043 1.249 0.018 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0132 0.0029 0.0050 0.0124 5.811e-05 0.0342 0.0177 0.0124 0.0034 0.0180 0.0038 0.0095 0.0033 0 0.0326 0.0254 0.0204 het 1627.24 98 12 55688894 . T G 1627.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.389;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.38;MQ0=0;MQRankSum=-1.466;QD=16.60;ReadPosRankSum=-1.408;VQSLOD=5.0716;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,59:98:99:1657,0,931 12 55714772 55714772 G A exonic OR6C1 nonsynonymous SNV OR6C1:NM_001005182:exon1:c.G389A:p.C130Y 0.78 0.83 0.77 0.86 0.77 0.66 0.7683 0.8157 0.7299 0.8592 0.7034 0.7870 0.7578 0.6692 0.8 0.82 0.78 0.78 0.68 rs7132431 COSM5618438 1(breast) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.999 0.212 P -3.54 0.000 N 7.44 0.004 T 8.56 0.000 N 0.031 0.015 -0.999 0.301 T 0.000 0.000 T . . . -0.999 0.032 0.016 0.220 0.009 0.022 0.063 N c -1.299 -0.981 0.000 0.050 0.487 0.133 0 3.41 0.380 6.006 0.702 -0.290 0.083 1.000 0.715 0.002 0.062 6.561 0.215 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7643 0.8157 0.7411 0.8499 0.8631 0.7090 0.7796 0.7706 0.6651 0.7806 0.8157 0.7530 0.8113 0.8798 0.7201 0.7658 0.7617 hom 1076.77 33 12 55714772 . G A 1076.77 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=32.63;VQSLOD=9.1042;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:93.28:1110,93,0 12 55714876 55714876 C G exonic OR6C1 nonsynonymous SNV OR6C1:NM_001005182:exon1:c.C493G:p.H165D 0.78 0.83 0.77 0.86 0.78 0.64 0.7666 0.8220 0.7304 0.8586 0.7031 0.7868 0.7572 0.6533 0.8 0.83 0.78 0.79 0.7 rs7132347 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -0.765 0.017 N 8.75 0.001 T 5.53 0.000 N 0.053 0.041 -0.967 0.379 T 0.000 0.000 T . . . -0.462 0.058 0.273 0.603 0.063 0.005 0.025 N c -1.312 -1.147 0.000 0.012 0.487 0.133 0 3.73 0.418 -2.453 0.011 0.060 0.166 0.000 0.063 0.868 0.363 5.223 0.146 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7629 0.8229 0.7416 0.8497 0.8631 0.7090 0.7797 0.7702 0.6493 0.7826 0.8225 0.7548 0.8113 0.8817 0.7206 0.7657 0.7602 hom 1370.15 44 12 55714876 . C G 1370.15 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=31.14;VQSLOD=9.3131;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1403,108,0 12 55715119 55715119 G A exonic OR6C1 nonsynonymous SNV OR6C1:NM_001005182:exon1:c.G736A:p.V246I 0.78 0.84 0.77 0.85 0.78 0.64 0.7670 0.8238 0.7314 0.8550 0.7033 0.7872 0.7555 0.6541 0.8 0.83 0.78 0.79 0.73 rs7132916 . . . . . . . . . . . . . 0.685 0.044 T 0.0 0.026 B 0.006 0.112 B 0.004 0.342 N 1 0.090 P 2.125 0.592 M 8.04 0.003 T -0.25 0.110 N 0.033 0.020 -0.910 0.468 T 0.000 0.000 T . . . 0.941 0.184 10.32 0.582 0.058 0.015 0.050 N c -0.845 -0.818 0.000 0.012 0.487 0.133 0 -0.5 0.114 -1.161 0.032 0.151 0.238 0.000 0.063 0.990 0.544 1.375 0.021 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7631 0.8251 0.7426 0.8500 0.8589 0.7089 0.7800 0.7691 0.6499 0.7828 0.8241 0.7542 0.8113 0.8769 0.7205 0.7655 0.7633 hom 4379.34 144 12 55715119 . G A 4379.34 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8049;MQ=58.34;MQ0=0;QD=30.41;VQSLOD=8.9386;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4378,349,0 12 55794976 55794976 A G exonic OR6C65 nonsynonymous SNV OR6C65:NM_001005518:exon1:c.A664G:p.T222A 0.78 0.49 0.87 0.93 0.84 0.9 0.8343 0.5372 0.9027 0.9091 0.8910 0.8367 0.8403 0.9016 0.74 0.54 0.83 0.64 0.8 rs7971073 COSM4147259 1(thyroid) . . . . . . . . . . . 0.03 0.453 D 0.623 0.381 P 0.595 0.488 P 0.125 0.188 N 1 0.090 P 1 0.253 L 8.91 0.000 T -4.44 0.776 D 0.022 0.006 -0.971 0.371 T 0.000 0.000 T . . . 2.395 0.349 18.79 0.995 0.653 0.034 0.084 N c -0.234 -0.326 0.000 0.029 0.487 0.133 0 3.71 0.416 0.360 0.198 0.846 0.345 0.000 0.063 0.029 0.146 4.443 0.109 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8435 0.5264 0.8949 0.8481 0.9083 0.8974 0.8340 0.8408 0.9028 0.7717 0.5565 0.8696 0.8477 0.9019 0.8940 0.8426 0.8429 hom 5014.46 150 12 55794976 . A G 5014.46 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5750;MQ=58.95;MQ0=0;QD=33.43;VQSLOD=9.8262;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:5014,388,0 12 55820121 55820121 C T exonic OR6C76 synonymous SNV OR6C76:NM_001005183:exon1:c.C84T:p.F28F 0.71 0.74 0.67 0.89 0.59 0.64 0.6360 0.7252 0.6390 0.9074 0.5664 0.5980 0.6123 0.6176 0.64 0.72 0.59 0.65 0.56 rs6581046 COSM4147260 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6319 0.7237 0.6437 0.6610 0.9085 0.5806 0.5869 0.6155 0.6119 0.6444 0.7298 0.6340 0.6167 0.9309 0.5865 0.5809 0.6096 hom 1792.09 60 12 55820121 . C T 1792.09 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8519;MQ=58.84;MQ0=0;QD=29.87;VQSLOD=9.0415;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1825,144,0 12 55863224 55863224 C G exonic OR6C70 nonsynonymous SNV OR6C70:NM_001005499:exon1:c.G699C:p.K233N 0.26 0.21 0.19 0.49 0.19 0.22 0.2230 0.2068 0.1895 0.5143 0.1610 0.2097 0.1958 0.1844 0.21 0.22 0.21 0.25 0.15 rs60683621 COSM4147261 2(thyroid) . . . . . . . . . . . 0.01 0.564 D 0.045 0.204 B 0.071 0.265 B 0.010 0.302 N 1.000 0.090 P 2.505 0.732 M 8.68 0.001 T -3.35 0.664 D 0.042 0.022 -0.833 0.531 T 0.000 0.000 T . . . 0.573 0.149 7.965 0.824 0.137 0.011 0.040 N c -1.330 -1.502 0.003 0.100 0.487 0.133 0 -5.23 0.026 -2.213 0.013 -1.418 0.012 0.000 0.063 0.000 0.016 6.995 0.238 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2218 0.2027 0.1980 0.2616 0.5139 0.1635 0.2054 0.2217 0.1825 0.2177 0.2117 0.2081 0.2583 0.5298 0.1639 0.2006 0.2076 hom 6484.30 199 12 55863224 . C G 6484.30 Mask AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8097;MQ=58.52;MQ0=0;QD=32.58;VQSLOD=8.0149;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,199:199:99:6484,497,0 12 55863381 55863381 A G exonic OR6C70 nonsynonymous SNV OR6C70:NM_001005499:exon1:c.T542C:p.L181P 0.83 0.97 0.77 0.89 0.75 0.69 0.7713 0.9373 0.7264 0.9077 0.6764 0.7667 0.7489 0.6846 0.82 0.93 0.76 0.85 0.7 rs10747756 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.513 N 1 0.090 P -2.92 0.000 N 8.99 0.000 T 9.74 0.000 N 0.044 0.024 -0.991 0.324 T 0.000 0.000 T . . . -1.071 0.029 0.011 0.714 0.093 0.003 0.015 N c -1.537 -1.363 0.000 0.061 0.487 0.133 0 3.16 0.353 1.428 0.343 -0.055 0.122 0.012 0.185 0.001 0.043 7.131 0.245 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7637 0.9412 0.7365 0.8392 0.9089 0.6846 0.7578 0.7627 0.6785 0.8024 0.9332 0.7458 0.8079 0.9302 0.6920 0.7446 0.7515 hom 6310.95 198 12 55863381 . A G 6310.95 Mask AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5357;MQ=59.01;MQ0=0;QD=31.87;VQSLOD=8.0851;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,198:198:99:6310,485,0 12 55886294 55886294 G A exonic OR6C68 nonsynonymous SNV OR6C68:NM_001005519:exon1:c.G133A:p.A45T 0.62 0.52 0.66 0.81 0.59 0.57 0.6086 0.5310 0.6333 0.8160 0.5676 0.6042 0.5958 0.5663 0.58 0.54 0.6 0.59 0.52 rs7133698 . . . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.001 0.040 B 0.576 0.112 N 1 0.090 P -0.44 0.028 N 5.36 0.011 T 2.31 0.003 N 0.037 0.017 -0.973 0.365 T 0.000 0.000 T . . . -1.535 0.016 0.002 0.390 0.027 0.005 0.023 N c -1.989 -2.020 0.002 0.089 0.487 0.133 0 -6.2 0.019 -2.418 0.011 -1.515 0.010 0.000 0.063 0.000 0.016 1.872 0.030 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6094 0.5280 0.6357 0.6745 0.8177 0.5822 0.5930 0.6081 0.5629 0.5903 0.5480 0.6208 0.6291 0.8275 0.5865 0.5868 0.6055 hom 3546.10 126 12 55886294 . G A 3546.10 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.211;DP=126;Dels=0.00;FS=3.125;HRun=0;HaplotypeScore=2.7594;MQ=59.51;MQ0=0;MQRankSum=1.084;QD=28.14;ReadPosRankSum=-0.380;VQSLOD=4.1339;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,122:126:99:3511,260,0 12 55886489 55886489 T A exonic OR6C68 nonsynonymous SNV OR6C68:NM_001005519:exon1:c.T328A:p.F110I 0.26 0.22 0.19 0.49 0.19 0.22 0.2231 0.2082 0.1901 0.5146 0.1609 0.2097 0.1927 0.1836 0.21 0.22 0.21 0.25 0.15 rs7304753 COSM3753386;COSM5827228 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.964 0.693 D 0.000 0.513 D 0.965 0.259 P 1.28 0.323 L 5.65 0.008 T -5.25 0.840 D 0.15 0.178 -0.823 0.537 T 0.000 0.000 T . . . 5.093 0.686 25.3 0.990 0.502 0.205 0.208 N c 0.083 -0.019 0.001 0.075 0.487 0.133 0 4.77 0.603 0.406 0.206 0.954 0.563 0.000 0.063 0.016 0.126 14.446 0.668 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2219 0.2044 0.1984 0.2615 0.5144 0.1635 0.2054 0.2216 0.1818 0.2188 0.2139 0.2112 0.2583 0.5316 0.1636 0.2009 0.2102 hom 4041.29 133 12 55886489 . T A 4041.29 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.706;DP=133;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.6651;MQ=59.09;MQ0=0;MQRankSum=-0.052;QD=30.39;ReadPosRankSum=0.394;VQSLOD=8.8005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,131:133:99:4041,319,0 12 55886507 55886507 A G exonic OR6C68 nonsynonymous SNV OR6C68:NM_001005519:exon1:c.A346G:p.M116V . . . . . . 4.118e-05 0.0004 0 0 0 1.498e-05 0 0 0.0002 0.0005 0.0001 . . rs141646704 . . . . . . . . . . . . . 0.001 0.784 D 0.968 0.546 D 0.619 0.495 P 0.000 0.629 D 0.991 0.414 D 3.825 0.957 H 5.46 0.010 T -3.84 0.722 D 0.627 0.646 -1.113 0.028 T 0.016 0.064 T 0.004 0.084 T 3.890 0.524 23.5 0.983 0.394 0.990 0.894 D c 0.673 0.546 0.999 0.383 0.487 0.133 0 4.77 0.603 6.405 0.730 1.075 0.850 1.000 0.715 0.086 0.183 14.446 0.668 GPCR\x2c rhodopsin-like\x2c 7TM . . 2.844e-05 0.0003 0 0 0 0 1.793e-05 0 0 3.23e-05 0.0001 0 0 0 0 0 0 het 1369.07 129 12 55886507 . A G 1369.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.839;DP=129;Dels=0.00;FS=0.657;HRun=0;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;MQRankSum=0.112;QD=10.61;ReadPosRankSum=-0.682;VQSLOD=4.6653;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,56:129:99:1399,0,1952 12 55887087 55887087 G T exonic OR6C68 nonsynonymous SNV OR6C68:NM_001005519:exon1:c.G926T:p.R309L 0.37 0.52 0.23 0.57 0.19 0.22 0.2667 0.4964 0.2077 0.6059 0.1648 0.2189 0.2257 0.2167 0.28 0.45 0.2 0.38 0.09 rs12579181 COSM5827229;COSM3753387 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.257 0.154 N 1 0.090 P 0 0.065 N 1.12 0.387 T 2.98 0.001 N 0.041 0.021 -0.928 0.445 T 0.000 0.000 T . . . 0.884 0.178 9.973 0.771 0.113 0.001 0.006 N c -1.270 -1.214 0.000 0.012 0.487 0.133 0 1.78 0.238 -0.061 0.116 0.074 0.181 0.000 0.063 0.002 0.062 1.314 0.020 . . . 0.2531 0.4849 0.2130 0.2671 0.5980 0.1668 0.2069 0.2369 0.1883 0.3055 0.4974 0.2309 0.2583 0.6293 0.1646 0.2022 0.2239 hom 1304.12 44 12 55887087 . G T 1304.12 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=29.64;VQSLOD=7.9998;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1337,105,0 12 55945119 55945119 A G exonic OR6C4 nonsynonymous SNV OR6C4:NM_001005494:exon1:c.A109G:p.I37V 1. 1. 1. 1. 0.98 1. 0.9924 0.9976 0.9971 1 0.9915 0.9882 0.9945 0.9993 0.99 1. 0.99 1. 1. rs7313899 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.015 0.283 N 1 0.090 P -0.115 0.046 N 6.76 0.005 T 0.11 0.057 N 0.017 0.003 -0.982 0.346 T 0.000 0.000 T . . . -1.146 0.027 0.008 0.791 0.122 0.012 0.042 N c -1.338 -1.225 0.000 0.012 0.487 0.133 0 1.82 0.241 -2.203 0.013 -1.491 0.010 0.000 0.063 0.001 0.043 0.493 0.005 . . . 0.9924 0.9977 0.9964 0.9996 1 0.9930 0.9866 0.9927 0.9993 0.9918 0.9967 1 1 1 0.9940 0.9871 0.9908 hom 5506.81 178 12 55945119 . A G 5506.81 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8051;MQ=58.72;MQ0=0;QD=30.94;VQSLOD=9.0760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5506,421,0 12 56031611 56031611 A G exonic OR10P1 synonymous SNV OR10P1:NM_206899:exon1:c.A936G:p.S312S 0.23 0.22 0.11 0.54 0.11 0.14 0.1891 0.2357 0.1571 0.5546 0.1724 0.1458 0.1701 0.1569 0.15 0.21 0.13 0.2 0.098 rs11171631 COSM3753388 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1665 0.2076 0.1417 0.1564 0.5349 0.1496 0.1253 0.1502 0.1242 0.1685 0.2003 0.1408 0.1733 0.5304 0.1479 0.1182 0.1554 het 902.86 48 12 56031611 . A G 902.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.598;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=0.587;QD=18.81;ReadPosRankSum=-0.498;VQSLOD=6.5299;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,30:48:99:933,0,414 12 56089357 56089357 C T exonic ITGA7 nonsynonymous SNV ITGA7:NM_001144996:exon14:c.G1964A:p.R655H,ITGA7:NM_001144997:exon14:c.G1673A:p.R558H,ITGA7:NM_002206:exon14:c.G1952A:p.R651H 0.6 0.31 0.62 0.93 0.49 0.74 0.5854 0.3344 0.7328 0.9394 0.6510 0.5172 0.5958 0.7032 0.45 0.34 0.51 0.52 0.5 rs1800974 COSM4147273;COSM4147274;COSM4147272;COSM4147275 2(thyroid) Benign|Benign not_specified|Congenital_Muscular_Dystrophy\x2c_ITGA7-related RCV000079979.7|RCV000392154.1 MedGen|MedGen CN169374|CN239268 . . . . . . 0.281 0.179 T 0.0 0.067 B 0.001 0.063 B 0.573 0.112 N 1 0.090 P 0.345 0.112 N 0.84 0.475 T 1.38 0.011 N 0.051 0.301 -1.002 0.292 T 0.000 0.000 T . . . 2.355 0.344 18.52 0.939 0.233 0.003 0.018 N c -0.975 -0.941 0.963 0.286 0.732 0.924 0 -0.706 0.106 0.092 0.148 -0.918 0.026 0.001 0.137 0.124 0.197 9.220 0.363 Integrin alpha-2|Integrin domain ENSG00000135424.11|ENSG00000135424.11|ENSG00000135424.11|ENSG00000135424.11|ENSG00000135424.11|ENSG00000135424.11|ENSG00000135437.5|ENSG00000135424.11|ENSG00000135424.11|ENSG00000135424.11|ENSG00000170439.5 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5926 0.3254 0.7154 0.4533 0.9386 0.6505 0.5128 0.5530 0.6966 0.5134 0.3328 0.6423 0.45 0.9455 0.6320 0.5344 0.5661 het 1210.34 138 12 56089357 . C T 1210.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.436;DP=138;Dels=0.00;FS=7.060;HRun=0;HaplotypeScore=5.1445;MQ=59.33;MQ0=0;MQRankSum=-0.879;QD=8.77;ReadPosRankSum=1.491;VQSLOD=3.4296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,50:138:99:1240,0,2219 12 56092682 56092682 C T exonic ITGA7 synonymous SNV ITGA7:NM_001144996:exon6:c.G822A:p.G274G,ITGA7:NM_001144997:exon6:c.G531A:p.G177G,ITGA7:NM_002206:exon6:c.G810A:p.G270G 0.035 0.0023 0.065 . 0.099 0.028 0.0718 0.0153 0.0512 0.0001 0.0765 0.0993 0.0900 0.0442 0.059 0.014 0.083 0.065 0.098 rs3847675 . . other|Likely benign not_specified|Congenital_Muscular_Dystrophy\x2c_ITGA7-related RCV000079990.9|RCV000278071.1 MedGen|MedGen CN169374|CN239268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0600 0.0104 0.0460 0.0978 0.0002 0.0569 0.0820 0.0787 0.0417 0.0580 0.0137 0.0609 0.1126 0.0012 0.0622 0.0861 0.0837 het 253.54 19 12 56092682 . C T 253.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.867;DP=19;Dels=0.00;FS=2.197;HRun=3;HaplotypeScore=1.7900;MQ=60.00;MQ0=0;MQRankSum=-0.867;QD=13.34;ReadPosRankSum=0.289;VQSLOD=6.0636;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,11:19:99:284,0,207 12 56236531 56236531 A G exonic MMP19 synonymous SNV MMP19:NM_001272101:exon1:c.T84C:p.P28P,MMP19:NM_002429:exon1:c.T84C:p.P28P 0.99 0.97 1. 1. 1. 1. 0.9975 0.9722 0.9985 1 1 0.9999 1 1 0.99 0.97 1. 1. 0.61 rs7294345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9981 0.9730 0.9984 1 1 1 0.9999 0.9990 0.9999 0.9936 0.9776 0.9976 1 1 1 1 1 hom 449.14 16 12 56236531 . A G 449.14 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=57.05;MQ0=0;QD=28.07;VQSLOD=5.8508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:42.11:482,42,0 12 56295734 56295734 A G exonic PYM1 synonymous SNV PYM1:NM_001143853:exon3:c.T534C:p.P178P,PYM1:NM_032345:exon3:c.T537C:p.P179P 0.96 0.86 0.99 1. 1. 1. 0.9893 0.8748 0.9957 1 1 0.9998 0.9978 0.9998 0.96 0.88 1. 0.91 0.98 rs7302270 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9912 0.8738 0.9946 0.9999 1 1 0.9997 0.9951 0.9998 0.9674 0.8859 0.9893 1 1 1 0.9998 0.9969 hom 8447.75 250 12 56295734 . A G 8447.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.257;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=11.0962;MQ=59.57;MQ0=0;MQRankSum=0.104;QD=33.79;ReadPosRankSum=-1.398;VQSLOD=2.3137;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8408,617,0 12 56335107 56335107 A G exonic DGKA synonymous SNV DGKA:NM_001351038:exon13:c.A111G:p.Q37Q,DGKA:NM_001351039:exon13:c.A111G:p.Q37Q,DGKA:NM_001351040:exon13:c.A111G:p.Q37Q,DGKA:NM_001345:exon14:c.A1173G:p.Q391Q,DGKA:NM_001351033:exon14:c.A1173G:p.Q391Q,DGKA:NM_001351035:exon14:c.A1287G:p.Q429Q,DGKA:NM_001351036:exon14:c.A750G:p.Q250Q,DGKA:NM_001351037:exon14:c.A750G:p.Q250Q,DGKA:NM_201444:exon14:c.A1173G:p.Q391Q,DGKA:NM_201554:exon14:c.A1173G:p.Q391Q,DGKA:NM_001351034:exon15:c.A1173G:p.Q391Q,DGKA:NM_201445:exon15:c.A1173G:p.Q391Q 0.85 0.96 0.8 0.78 0.8 0.85 0.8145 0.9377 0.7231 0.7829 0.7648 0.8099 0.8212 0.8555 0.85 0.93 0.81 0.92 0.7 rs1136082 COSM3998884 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8081 0.9371 0.7233 0.8863 0.7800 0.7696 0.8085 0.8106 0.8532 0.8391 0.9287 0.7464 0.9167 0.7854 0.7638 0.8170 0.7930 hom 3796.59 105 12 56335107 . A G 3796.59 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.643;DP=105;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=58.71;MQ0=0;MQRankSum=-0.346;QD=36.16;ReadPosRankSum=-1.105;VQSLOD=9.1047;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,104:105:99:3758,274,0 12 56348028 56348028 G A exonic PMEL synonymous SNV PMEL:NM_001200053:exon9:c.C1698T:p.N566N,PMEL:NM_001200054:exon11:c.C1977T:p.N659N,PMEL:NM_001320121:exon12:c.C1851T:p.N617N,PMEL:NM_001320122:exon12:c.C1830T:p.N610N,PMEL:NM_006928:exon12:c.C1956T:p.N652N 0.72 0.51 0.75 0.77 0.79 0.85 0.7770 0.5464 0.7046 0.7767 0.7645 0.8075 0.8068 0.8534 0.72 0.55 0.81 0.73 0.74 rs1052206 COSM3998885 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7784 0.5442 0.7042 0.8784 0.7750 0.7688 0.8056 0.7925 0.8510 0.7286 0.5478 0.7148 0.9007 0.7788 0.7623 0.8143 0.7796 hom 3445.20 120 12 56348028 . G A 3445.20 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0625;MQ=59.06;MQ0=0;QD=28.71;VQSLOD=7.8112;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3444,277,0 12 56351346 56351346 G A exonic PMEL synonymous SNV PMEL:NM_001200053:exon4:c.C483T:p.P161P,PMEL:NM_001200054:exon6:c.C741T:p.P247P,PMEL:NM_001320121:exon6:c.C741T:p.P247P,PMEL:NM_001320122:exon6:c.C741T:p.P247P,PMEL:NM_006928:exon7:c.C741T:p.P247P 0.21 0.02 0.17 0.24 0.27 0.42 0.2585 0.0517 0.1601 0.2638 0.2339 0.2770 0.2467 0.3907 0.21 0.061 0.28 0.23 0.25 rs1052165 COSM5618690;COSM5618689 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2597 0.0482 0.1625 0.3075 0.2699 0.2356 0.2805 0.2623 0.3911 0.2018 0.0567 0.1623 0.3079 0.2593 0.2292 0.2704 0.2562 het 3995.51 248 12 56351346 . G A 3995.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.494;DP=248;DS;Dels=0.00;FS=6.912;HRun=0;HaplotypeScore=3.4106;MQ=59.65;MQ0=0;MQRankSum=0.046;QD=16.11;ReadPosRankSum=1.031;VQSLOD=4.3240;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:129,119:248:99:3342,0,3774 12 56398454 56398454 G C exonic SUOX synonymous SNV SUOX:NM_001032387:exon4:c.G1281C:p.S427S,SUOX:NM_001032386:exon5:c.G1281C:p.S427S,SUOX:NM_000456:exon6:c.G1281C:p.S427S 0.75 0.26 0.9 0.94 0.92 0.95 0.8730 0.3531 0.9387 0.9303 0.8975 0.9146 0.9117 0.9442 0.74 0.38 0.92 0.7 0.86 rs773115 . . other|Benign\x2cLikely benign not_specified|Sulfite_oxidase_deficiency\x2cSulfite_oxidase_deficiency RCV000118423.3|RCV000363638.1\x2cRCV000268966.1 MedGen|MedGen:OMIM:SNOMED_CT\x2cMedGen:OMIM:SNOMED_CT CN169374|C0268624:272300:367368009\x2cC0268624:272300:367368009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8853 0.3467 0.9327 0.9084 0.9325 0.8993 0.9160 0.8976 0.9432 0.7617 0.3649 0.9248 0.9172 0.9280 0.8993 0.9203 0.9031 hom 2265.38 72 12 56398454 . G C 2265.38 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.72;MQ0=0;QD=31.46;VQSLOD=8.5946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2298,202,0 12 56647911 56647911 G C exonic ANKRD52 synonymous SNV ANKRD52:NM_173595:exon8:c.C846G:p.S282S 0.8 0.42 0.88 0.96 0.93 0.98 0.9050 0.4729 0.9203 0.9724 0.9451 0.9355 0.9365 0.9750 0.8 0.51 0.93 0.73 . rs808919 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9120 0.4655 0.9186 0.9561 0.9729 0.9436 0.9333 0.9307 0.9749 0.8030 0.4803 0.9031 0.9570 0.9727 0.9415 0.9235 0.9163 hom 7032.97 209 12 56647911 . G C 7032.97 Mask AC=2;AF=1.00;AN=2;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4143;MQ=58.86;MQ0=0;QD=33.65;VQSLOD=6.0998;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,209:209:99:7032,581,0 12 56649601 56649601 A G exonic ANKRD52 synonymous SNV ANKRD52:NM_173595:exon5:c.T429C:p.A143A 0.81 0.42 0.89 0.96 0.93 0.98 0.9105 0.5231 0.9159 0.9664 0.9403 0.9339 0.9375 0.9741 0.79 0.51 0.93 0.72 . rs1274490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9118 0.4581 0.9166 0.9568 0.9714 0.9424 0.9306 0.9333 0.9745 0.8046 0.4837 0.9033 0.9603 0.9728 0.9436 0.9244 0.9165 hom 472.53 15 12 56649601 . A G 472.53 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.03;MQ0=0;QD=31.50;VQSLOD=7.9756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:506,39,0 12 56669799 56669799 G A exonic CS synonymous SNV CS:NM_004077:exon7:c.C769T:p.L257L 0.0056 0.0008 0.01 . 0.019 0.001 0.0075 0.0023 0.0080 0 0.0080 0.0108 0.0055 0.0007 0.01 0.0025 0.014 . 0.0082 rs61738833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0079 0.0029 0.0076 0.0003 0 0.0083 0.0125 0.0066 0.0010 0.0070 0.0032 0.0048 0 0 0.0074 0.0101 0.0081 hom 2761.89 89 12 56669799 . G A 2761.89 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2296;MQ=59.53;MQ0=0;QD=31.03;VQSLOD=8.2630;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:89:99:2795,217,0 12 56722060 56722060 T G exonic PAN2 nonsynonymous SNV PAN2:NM_001127460:exon4:c.A535C:p.I179L,PAN2:NM_001166279:exon4:c.A535C:p.I179L,PAN2:NM_014871:exon4:c.A535C:p.I179L 0.84 0.41 0.94 1. 1. 1. 0.9502 0.4761 0.9744 0.9999 0.9998 0.9968 0.9812 0.9990 0.83 0.49 1. 0.75 0.96 rs1918496 COSM4147298 1(thyroid) . . . . . . . . . . . 0.284 0.155 T 0.001 0.067 B 0.005 0.104 B 0.083 0.208 N 1 0.090 P 1.02 0.256 L 0.02 0.623 T -0.68 0.273 N 0.269 0.327 -0.975 0.362 T 0.000 0.000 T . . . -0.316 0.067 0.612 0.689 0.085 0.018 0.056 N c -1.959 -2.068 1.000 0.747 0.707 0.730 0 -8.8 0.007 -2.587 0.010 -1.929 0.005 0.000 0.063 0.919 0.394 5.435 0.157 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000196465.6 Lung 0.9602 0.4669 0.9724 0.9807 1 1.0000 0.9980 0.9756 0.9990 0.8528 0.4855 0.9618 0.9768 1 1 0.9985 0.9807 hom 6168.28 181 12 56722060 . T G 6168.28 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=59.87;MQ0=0;QD=34.08;VQSLOD=9.8703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:6168,482,0 12 56814653 56814653 G A exonic TIMELESS nonsynonymous SNV TIMELESS:NM_001330295:exon25:c.C3050T:p.P1017L,TIMELESS:NM_003920:exon25:c.C3053T:p.P1018L 0.39 0.31 0.37 0.28 0.56 0.46 0.4924 0.3462 0.3512 0.2930 0.6189 0.5506 0.4857 0.5021 0.49 0.35 0.56 0.42 0.52 rs2291739 COSM3753397 1(large_intestine) . . . . . . . . . . . 0.021 0.491 D 1.0 0.899 D 0.977 0.722 D 0.000 0.843 D 0.000 0.588 P 2.93 0.848 M 2.69 0.123 T -2.82 0.595 D 0.236 0.797 -0.871 0.505 T 0.000 0.000 T . . . 5.331 0.722 25.8 0.998 0.901 0.996 0.976 D c 0.678 0.617 1.000 0.747 0.707 0.730 0 5.4 0.779 9.256 0.947 0.135 0.219 1.000 0.715 0.045 0.161 18.318 0.901 Timeless C-terminal . . 0.4928 0.3455 0.3668 0.4823 0.2895 0.6230 0.5556 0.4932 0.4989 0.4875 0.3623 0.4234 0.48 0.2633 0.6181 0.5559 0.5133 hom 2570.67 80 12 56814653 . G A 2570.67 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.01;MQ0=0;QD=32.13;VQSLOD=9.0467;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2604,202,0 12 56827694 56827694 C G exonic TIMELESS synonymous SNV TIMELESS:NM_001330295:exon3:c.G114C:p.L38L,TIMELESS:NM_003920:exon3:c.G114C:p.L38L 0.47 0.65 0.31 0.26 0.55 0.47 0.4985 0.6405 0.2549 0.2603 0.5799 0.5400 0.4658 0.5057 0.58 0.64 0.55 0.49 0.48 rs2279665 COSM147549 1(stomach);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4890 0.6452 0.2814 0.4763 0.2576 0.5853 0.5447 0.4754 0.5030 0.5542 0.6426 0.3660 0.4801 0.2426 0.5861 0.5440 0.5082 hom 5818.61 189 12 56827694 . C G 5818.61 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=58.82;MQ0=0;QD=30.79;VQSLOD=9.4436;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:5818,451,0 12 56862886 56862886 T C exonic SPRYD4 nonsynonymous SNV SPRYD4:NM_207344:exon2:c.T149C:p.M50T 0.99 0.96 1. 1. 1. 1. 0.9977 0.9758 0.9989 0.9999 1 0.9997 0.9989 1 0.99 0.98 1. 0.97 1. rs2657881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9981 0.9746 0.9986 1 0.9999 1 0.9998 0.9982 1.0000 0.9932 0.9768 0.9976 1 1 1 0.9997 1 hom 3046.90 95 12 56862886 . T C 3046.90 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9046;MQ=57.73;MQ0=0;QD=32.07;VQSLOD=7.5205;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3080,253,0 12 56956213 56956213 T C exonic RBMS2 synonymous SNV RBMS2:NM_002898:exon2:c.T79C:p.L27L 0.69 0.35 0.76 0.84 0.81 0.81 0.7914 0.4220 0.7803 0.8294 0.8416 0.8352 0.8002 0.8145 0.69 0.43 0.82 0.55 0.84 rs3759091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7975 0.4182 0.7921 0.8514 0.8250 0.8457 0.8276 0.8066 0.8142 0.7239 0.4372 0.8067 0.8609 0.8304 0.8422 0.8360 0.8401 hom 4584.62 147 12 56956213 . T C 4584.62 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=49.68;MQ0=5;QD=31.19;VQSLOD=5.5120;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,144:147:99:4584,358,0 12 57106660 57106660 A T exonic NACA synonymous SNV NACA:NM_001113201:exon7:c.T543A:p.I181I,NACA:NM_001113202:exon7:c.T543A:p.I181I,NACA:NM_001320193:exon7:c.T543A:p.I181I,NACA:NM_001320194:exon7:c.T543A:p.I181I,NACA:NM_005594:exon7:c.T543A:p.I181I,NACA:NM_001113203:exon10:c.T2673A:p.I891I 0.8 0.86 0.76 0.74 0.73 0.85 0.7733 0.8578 0.8246 0.7478 0.8202 0.7353 0.7698 0.8323 0.76 0.84 0.72 0.85 0.73 rs4788 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7720 0.8572 0.8126 0.7025 0.7487 0.8194 0.7322 0.7718 0.8307 0.7855 0.8419 0.7883 0.6887 0.7671 0.8191 0.7480 0.7957 het 2764.83 232 12 57106660 . A T 2764.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.099;DP=232;DS;Dels=0.00;FS=2.995;HRun=0;HaplotypeScore=3.6948;MQ=59.74;MQ0=0;MQRankSum=-1.371;QD=11.92;ReadPosRankSum=0.029;VQSLOD=4.6061;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,111:232:99:2795,0,3368 12 57108203 57108203 A G exonic NACA synonymous SNV NACA:NM_001113201:exon4:c.T177C:p.I59I,NACA:NM_001113202:exon4:c.T177C:p.I59I,NACA:NM_001320193:exon4:c.T177C:p.I59I,NACA:NM_001320194:exon4:c.T177C:p.I59I,NACA:NM_005594:exon4:c.T177C:p.I59I,NACA:NM_001113203:exon7:c.T2307C:p.I769I 0.61 0.33 0.67 0.74 0.63 0.78 0.6537 0.4065 0.7515 0.7434 0.7221 0.6355 0.6460 0.7406 0.55 0.41 0.62 0.65 0.56 rs4902 COSM5618735;COSM1128524;COSM1128525 1(breast);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6612 0.3952 0.7412 0.5825 0.7447 0.7241 0.6345 0.6534 0.7374 0.5974 0.4014 0.7053 0.5927 0.7611 0.7216 0.6531 0.6871 het 1297.82 104 12 57108203 . A G 1297.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.873;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.4523;MQ=58.00;MQ0=0;MQRankSum=0.928;QD=12.48;ReadPosRankSum=-1.674;VQSLOD=2.5372;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,55:104:99:1328,0,1164 12 57109792 57109792 A G exonic NACA nonsynonymous SNV NACA:NM_001113203:exon5:c.T2063C:p.L688P 0.81 0.91 0.76 0.75 0.73 0.85 0.7774 0.9038 0.8272 0.7480 0.8202 0.7367 0.7804 0.8339 0.77 0.9 0.72 0.89 . rs2958149 COSM4147301;COSM4147300 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.019 0.588 P -1.01 0.011 N 1.11 0.398 T 2.34 0.003 N 0.062 0.092 -1.001 0.295 T 0.000 0.000 T . . . 1.812 0.279 15.06 0.828 0.139 0.283 0.233 N c -0.690 -0.455 1.000 0.747 0.730 0.875 0 4.08 0.467 4.966 0.632 -0.022 0.129 1.000 0.715 0.998 0.697 10.999 0.466 . ENSG00000076108.7 Testis 0.7736 0.9063 0.8127 0.6947 0.7489 0.8174 0.7298 0.7710 0.8276 0.8003 0.8957 0.7888 0.6887 0.7658 0.8186 0.7477 0.7912 het 933.38 52 12 57109792 . A G 933.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.729;DP=52;Dels=0.00;FS=5.177;HRun=1;HaplotypeScore=2.6605;MQ=59.19;MQ0=0;MQRankSum=-0.342;QD=17.95;ReadPosRankSum=-1.368;VQSLOD=4.7643;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,33:52:99:963,0,529 12 57109931 57109931 A T exonic NACA nonsynonymous SNV NACA:NM_001113203:exon5:c.T1924A:p.S642T 0.65 0.48 0.67 0.74 0.63 0.78 0.6650 0.5263 0.7558 0.7399 0.7201 0.6354 0.6528 0.7405 0.59 0.52 0.62 0.73 . rs2926747 COSM4147302;COSM4147303 2(thyroid) . . . . . . . . . . . 0.96 0.053 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N 1.0 0.414 T -0.21 0.103 N 0.018 0.003 -1.006 0.281 T 0.000 0.000 T . . . -1.110 0.028 0.010 0.084 0.001 0.063 0.122 N c -1.277 -1.252 1.000 0.747 0.730 0.875 0 2.55 0.296 -0.842 0.044 -0.478 0.053 0.000 0.063 0.040 0.157 4.162 0.097 . ENSG00000076108.7 Testis 0.6696 0.5178 0.7464 0.5786 0.7433 0.7241 0.6344 0.6622 0.7374 0.6313 0.5217 0.7148 0.5795 0.7581 0.7207 0.6533 0.6871 het 234.23 31 12 57109931 . A T 234.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.642;DP=31;Dels=0.00;FS=3.831;HRun=0;HaplotypeScore=1.7262;MQ=60.00;MQ0=0;MQRankSum=1.262;QD=7.56;ReadPosRankSum=0.642;VQSLOD=4.9853;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,12:31:99:264,0,466 12 57114100 57114100 A G exonic NACA nonsynonymous SNV NACA:NM_001113203:exon3:c.T1214C:p.F405S 0.81 0.91 0.76 0.74 0.73 0.85 0.7754 0.9039 0.8271 0.7469 0.7976 0.7348 0.7722 0.8326 0.78 0.9 0.72 0.88 . rs2926743 COSM5453071;COSM5453072 1(large_intestine) . . . . . . . . . . . 0.141 0.255 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.55 0.024 N 0.91 0.449 T 0.39 0.035 N 0.025 0.030 -1.055 0.131 T 0.000 0.000 T . . . -1.298 0.022 0.005 0.781 0.117 0.004 0.021 N c -1.298 -1.306 0.999 0.395 0.490 0.173 0 0.525 0.162 0.115 0.153 -0.264 0.087 0.007 0.175 0.187 0.214 4.111 0.095 . ENSG00000076108.7 Testis 0.7732 0.9063 0.8149 0.7029 0.7486 0.7965 0.7320 0.7700 0.8310 0.7965 0.8956 0.7888 0.6887 0.7652 0.7942 0.7461 0.7843 het 1719.32 89 12 57114100 . A G 1719.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.735;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=-1.150;QD=19.32;ReadPosRankSum=0.633;VQSLOD=6.7624;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,58:89:99:1749,0,846 12 57114307 57114307 A T exonic NACA nonsynonymous SNV NACA:NM_001113203:exon3:c.T1007A:p.V336E 0.61 0.33 0.67 0.74 0.63 0.78 0.6536 0.4064 0.7526 0.7436 0.6998 0.6349 0.6443 0.7408 0.56 0.41 0.62 0.65 . rs2958127 . . . . . . . . . . . . . 0.003 0.784 D 0.053 0.211 B 0.011 0.145 B . . . 1 0.090 P 0.695 0.181 N 0.71 0.512 T -0.25 0.110 N 0.046 0.065 -0.955 0.401 T 0.000 0.000 T . . . 1.339 0.225 12.47 0.815 0.132 0.072 0.131 N c -1.242 -1.305 1.000 0.500 0.405 0.054 1 -4.83 0.029 -0.016 0.124 1.028 0.649 0.000 0.063 0.005 0.090 1.796 0.029 . ENSG00000076108.7 Testis 0.6587 0.3956 0.7414 0.5784 0.7446 0.7011 0.6337 0.6489 0.7375 0.5934 0.4023 0.7045 0.5795 0.7600 0.6963 0.6512 0.6765 het 498.82 25 12 57114307 . A T 498.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.104;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;MQRankSum=-1.557;QD=19.95;ReadPosRankSum=0.198;VQSLOD=5.6649;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,16:25:99:529,0,223 12 57133140 57133140 T G exonic PRIM1 synonymous SNV PRIM1:NM_000946:exon10:c.A990C:p.I330I 0.61 0.33 0.67 0.74 0.63 0.78 0.6816 0.4512 0.7739 0.7560 0.7170 0.6666 0.6766 0.7515 0.56 0.43 0.62 0.65 . rs1131514 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6563 0.3891 0.7383 0.5785 0.7428 0.7005 0.6301 0.6482 0.7338 0.5932 0.4013 0.7053 0.5833 0.7611 0.6961 0.6511 0.6776 het 125.31 17 12 57133140 . T G 125.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.960;DP=17;Dels=0.00;FS=2.218;HRun=0;HaplotypeScore=1.5226;MQ=58.63;MQ0=0;MQRankSum=0.754;QD=7.37;ReadPosRankSum=-0.553;VQSLOD=5.6865;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,6:17:99:155,0,296 12 57560777 57560777 G A exonic LRP1 synonymous SNV LRP1:NM_002332:exon18:c.G2862A:p.T954T . . . . . . 6.593e-05 0 0 0 0 8.998e-05 0 0.0001 . . . . . rs763600882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.064e-05 0 0 0 0 0 7.171e-05 0 6.497e-05 6.464e-05 0 0 0 0 0 0.0001 0 het 1828.43 124 12 57560777 . G A 1828.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.749;DP=124;Dels=0.00;FS=4.517;HRun=0;HaplotypeScore=1.9894;MQ=59.63;MQ0=0;MQRankSum=-0.671;QD=14.75;ReadPosRankSum=-0.269;VQSLOD=4.3069;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,70:124:99:1858,0,1281 12 57567762 57567762 C T exonic LRP1 synonymous SNV LRP1:NM_002332:exon22:c.C3546T:p.C1182C 0.39 0.52 0.44 0.43 0.31 0.21 0.3546 0.4867 0.5382 0.3899 0.4078 0.3280 0.3716 0.2112 0.37 0.47 0.31 0.41 0.25 rs1800194 COSM3753403 1(breast);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3543 0.4899 0.5136 0.3070 0.3873 0.4058 0.3175 0.3348 0.2108 0.3739 0.4847 0.4642 0.2781 0.3985 0.3941 0.3 0.3557 het 818.14 59 12 57567762 . C T 818.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.632;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9940;MQ=59.05;MQ0=0;MQRankSum=1.342;QD=13.87;ReadPosRankSum=-0.144;VQSLOD=6.0417;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,30:59:99:848,0,723 12 57569339 57569339 G A exonic LRP1 nonsynonymous SNV LRP1:NM_002332:exon23:c.G3644A:p.G1215E 0.0018 0.0008 0.0029 . 0.005 0.001 0.0035 0.0007 0.0008 0.0003 0.0006 0.0052 0.0033 0.0033 0.0035 0.0016 0.0045 . . rs35890409 COSM3739798 1(liver) . . . . . . . . . . . 0.169 0.229 T 1.0 0.899 D 0.998 0.875 D 0.000 0.843 D 0.999 0.461 D 0.675 0.164 N -3.96 0.962 D -2.25 0.503 N 0.587 0.615 0.658 0.926 D 0.877 0.959 D 0.081 0.736 D 4.743 0.636 24.7 0.997 0.808 0.886 0.484 D c 0.381 0.386 1.000 0.747 0.632 0.406 0 3.94 0.446 3.464 0.526 1.048 0.713 1.000 0.715 0.989 0.536 15.302 0.735 EGF-like domain|Growth factor receptor cysteine-rich domain . . 0.0036 0.0006 0.0010 0.0131 0.0003 0.0006 0.0053 0.0029 0.0032 0.0031 0.0013 0 0.0199 0 0.0009 0.0048 0.0041 het 1514.45 127 12 57569339 . G A 1514.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.598;DP=127;Dels=0.00;FS=5.446;HRun=0;HaplotypeScore=2.5494;MQ=59.04;MQ0=0;MQRankSum=-0.217;QD=11.92;ReadPosRankSum=-1.078;VQSLOD=4.6216;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,55:127:99:1544,0,1952 12 57585144 57585144 C T exonic LRP1 synonymous SNV LRP1:NM_002332:exon44:c.C7278T:p.A2426A 0.54 0.27 0.54 0.49 0.68 0.79 0.6256 0.3236 0.4524 0.5515 0.6111 0.6728 0.63 0.7893 0.57 0.34 0.68 0.51 0.7 rs1800139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6244 0.3106 0.4724 0.6782 0.5506 0.5951 0.6799 0.6526 0.7860 0.5679 0.3277 0.5191 0.7086 0.5348 0.6059 0.6976 0.6339 het 1116.73 72 12 57585144 . C T 1116.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.009;DP=72;Dels=0.00;FS=2.050;HRun=0;HaplotypeScore=0.7887;MQ=57.68;MQ0=0;MQRankSum=2.057;QD=15.51;ReadPosRankSum=-0.017;VQSLOD=4.2613;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,40:72:99:1147,0,778 12 57589659 57589659 C T exonic LRP1 synonymous SNV LRP1:NM_002332:exon54:c.C8574T:p.C2858C 0.39 0.52 0.45 0.44 0.31 0.21 0.3533 0.4937 0.5379 0.3945 0.3935 0.3257 0.3681 0.2099 0.37 0.49 0.31 0.41 0.27 rs1800154 COSM3753404 1(breast);1(liver);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3564 0.5021 0.5172 0.3069 0.3946 0.4049 0.3182 0.3357 0.2110 0.3794 0.5009 0.4642 0.2781 0.4126 0.3939 0.3005 0.3585 het 805.18 69 12 57589659 . C T 805.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.680;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8737;MQ=60.00;MQ0=0;MQRankSum=0.102;QD=11.67;ReadPosRankSum=-1.221;VQSLOD=5.8691;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,32:69:99:835,0,998 12 57589784 57589784 A C exonic LRP1 nonsynonymous SNV LRP1:NM_002332:exon54:c.A8699C:p.Q2900P 0.99 0.96 1. 1. 1. 1. 0.9970 0.9663 0.9988 1 1 0.9999 0.9989 1 0.99 0.97 1. 1. 1. rs7397167 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.379 N 1.000 0.197 P -0.695 0.019 N -2.59 0.898 D 1.92 0.004 N 0.026 0.008 -0.942 0.423 T 0.000 0.000 T . . . 2.015 0.303 16.31 0.920 0.208 0.133 0.176 N c -0.607 -0.354 1.000 0.411 0.672 0.522 0 4.54 0.551 3.866 0.555 0.014 0.141 0.969 0.340 0.990 0.544 13.090 0.584 . . . 0.9976 0.9665 0.9980 1 1 1 0.9999 0.9989 1 0.9913 0.9700 0.9988 1 1 1 0.9997 0.9980 hom 3324.21 100 12 57589784 . A C 3324.21 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.4407;MQ=59.77;MQ0=0;QD=33.24;VQSLOD=7.1073;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3324,256,0 12 57590797 57590797 C T exonic LRP1 synonymous SNV LRP1:NM_002332:exon56:c.C8925T:p.D2975D 0.39 0.52 0.44 0.44 0.31 0.21 0.3576 0.4957 0.5402 0.3976 0.4154 0.3302 0.3683 0.2133 0.37 0.49 0.31 0.4 0.25 rs1800156 COSM3753405 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3560 0.5011 0.5158 0.3069 0.3944 0.4035 0.3181 0.3366 0.2114 0.3794 0.5005 0.4642 0.2781 0.4133 0.3938 0.3007 0.3586 het 709.41 49 12 57590797 . C T 709.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.095;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9981;MQ=60.00;MQ0=0;MQRankSum=0.975;QD=14.48;ReadPosRankSum=-0.553;VQSLOD=5.8389;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,27:49:99:739,0,638 12 57590869 57590869 T C exonic LRP1 synonymous SNV LRP1:NM_002332:exon56:c.T8997C:p.T2999T 0.98 0.94 1. 1. 1. 1. 0.9954 0.9497 0.9980 0.9999 1 0.9999 0.9967 1 0.98 0.95 1. 0.97 1. rs7308698 COSM4147319 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9512 0.9975 0.9999 0.9999 1 0.9999 0.9978 0.9999 0.9865 0.9535 0.9964 1 1 1 0.9996 0.9959 hom 3560.09 115 12 57590869 . T C 3560.09 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.40;MQ0=0;QD=30.96;VQSLOD=8.5810;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,114:115:99:3560,274,0 12 57593101 57593101 G A exonic LRP1 synonymous SNV LRP1:NM_002332:exon61:c.G9783A:p.T3261T 0.53 0.26 0.54 0.5 0.68 0.79 0.6219 0.3122 0.4496 0.5536 0.6045 0.6698 0.6211 0.7868 0.56 0.33 0.68 0.51 0.7 rs1140648 COSM3998893 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6220 0.3014 0.4689 0.6778 0.5501 0.5959 0.6768 0.6478 0.7858 0.5635 0.3187 0.5119 0.7053 0.5361 0.6056 0.6946 0.6293 het 4624.74 250 12 57593101 . G A 4624.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.385;DP=250;DS;Dels=0.00;FS=6.975;HRun=0;HaplotypeScore=3.4424;MQ=59.57;MQ0=0;MQRankSum=1.933;QD=18.50;ReadPosRankSum=-1.113;VQSLOD=3.4444;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:114,136:250:99:3944,0,3246 12 57619209 57619209 C G exonic NXPH4 synonymous SNV NXPH4:NM_007224:exon2:c.C606G:p.P202P 0.97 0.88 0.99 1. 1. 1. 0.9925 0.9082 0.9954 1 1 0.9988 0.9975 0.9998 0.98 0.94 1. 0.27 0.25 rs7979061 COSM3749225 1(thyroid);10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9927 0.9043 0.9944 0.9865 1 1 0.9995 0.9955 0.9999 0.9748 0.9123 0.9893 0.9868 1 1 0.9999 0.9990 hom 929.26 27 12 57619209 . C G 929.26 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.42;VQSLOD=12.6757;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:78.23:962,78,0 12 57619362 57619362 G A exonic NXPH4 synonymous SNV NXPH4:NM_007224:exon2:c.G759A:p.P253P 0.35 0.31 0.43 0.48 0.33 0.23 0.3547 0.3196 0.5407 0.4551 0.3539 0.3463 0.3673 0.2271 0.32 0.32 0.33 0.36 0.32 rs10783816 COSM147553 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3593 0.3127 0.5225 0.3421 0.4603 0.3651 0.3380 0.3454 0.2277 0.3370 0.3159 0.4737 0.2980 0.4869 0.3610 0.3193 0.3554 het 797.87 76 12 57619362 . G A 797.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.171;DP=76;Dels=0.00;FS=5.246;HRun=0;HaplotypeScore=4.3065;MQ=59.09;MQ0=0;MQRankSum=1.656;QD=10.50;ReadPosRankSum=-1.060;VQSLOD=4.3785;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,34:76:99:828,0,1022 12 57649840 57649840 C T exonic R3HDM2 synonymous SNV R3HDM2:NM_001351217:exon21:c.G2469A:p.K823K,R3HDM2:NM_001351213:exon22:c.G2571A:p.K857K,R3HDM2:NM_001351214:exon22:c.G2571A:p.K857K,R3HDM2:NM_001351215:exon22:c.G2571A:p.K857K,R3HDM2:NM_001351216:exon22:c.G2559A:p.K853K,R3HDM2:NM_001351218:exon22:c.G2469A:p.K823K,R3HDM2:NM_001330122:exon23:c.G2625A:p.K875K,R3HDM2:NM_001330123:exon23:c.G2493A:p.K831K,R3HDM2:NM_001351208:exon23:c.G2667A:p.K889K,R3HDM2:NM_001351209:exon23:c.G2619A:p.K873K,R3HDM2:NM_001351212:exon23:c.G2571A:p.K857K,R3HDM2:NM_014925:exon23:c.G2523A:p.K841K,R3HDM2:NM_001330121:exon24:c.G2625A:p.K875K,R3HDM2:NM_001351205:exon24:c.G2721A:p.K907K,R3HDM2:NM_001351206:exon24:c.G2721A:p.K907K,R3HDM2:NM_001351211:exon24:c.G2589A:p.K863K,R3HDM2:NM_001351204:exon25:c.G2721A:p.K907K,R3HDM2:NM_001351207:exon26:c.G2691A:p.K897K 0.42 0.23 0.55 0.44 0.42 0.55 0.4875 0.2700 0.6596 0.4839 0.5774 0.4723 0.4426 0.5338 0.4 0.28 0.46 0.29 0.4 rs4075325 COSM3753413;COSM3753412;COSM3753414 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4930 0.2698 0.6274 0.3695 0.4867 0.5735 0.4710 0.4507 0.5295 0.4405 0.2713 0.5766 0.3510 0.4751 0.5745 0.4940 0.5010 het 2687.92 194 12 57649840 . C T 2687.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.250;DP=194;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.5826;MQ=59.55;MQ0=0;MQRankSum=1.240;QD=13.86;ReadPosRankSum=0.610;VQSLOD=4.7056;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,101:194:99:2718,0,2597 12 57843711 57843711 G A exonic INHBC nonsynonymous SNV INHBC:NM_005538:exon2:c.G965A:p.R322Q 0.13 0.078 0.31 0.068 0.19 0.081 0.2182 0.0933 0.4665 0.0717 0.2314 0.2338 0.1817 0.1004 0.18 0.096 0.23 0.11 0.2 rs2229357 COSM3753415 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.065 0.363 T 0.275 0.302 B 0.066 0.260 B 0.000 0.447 N 1.000 0.198 P 2.24 0.636 M -1.75 0.835 D -1.82 0.427 N 0.065 0.051 -1.112 0.029 T 0.000 0.000 T . . . 4.564 0.611 24.4 0.999 0.959 0.523 0.289 D c -0.373 -0.352 1.000 0.747 0.534 0.214 0 2.42 0.286 1.420 0.342 0.953 0.551 0.357 0.256 0.977 0.480 10.175 0.419 Cystine-knot cytokine|Transforming growth factor-beta\x2c C-terminal ENSG00000179912.15 Cells_Transformed_fibroblasts 0.2172 0.0916 0.4308 0.1567 0.0705 0.2268 0.2319 0.2059 0.0896 0.1877 0.0967 0.3792 0.1233 0.0760 0.2398 0.2301 0.2049 het 1752.77 134 12 57843711 . G A 1752.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.881;DP=134;Dels=0.00;FS=1.394;HRun=0;HaplotypeScore=4.8564;MQ=59.38;MQ0=0;MQRankSum=-0.332;QD=13.08;ReadPosRankSum=-0.574;VQSLOD=5.3171;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,65:134:99:1783,0,1694 12 57859431 57859431 G A exonic GLI1 synonymous SNV GLI1:NM_001160045:exon4:c.G192A:p.E64E,GLI1:NM_001167609:exon5:c.G453A:p.E151E,GLI1:NM_005269:exon6:c.G576A:p.E192E 0.36 0.16 0.39 0.3 0.62 0.41 0.4999 0.2261 0.2919 0.3040 0.5233 0.6185 0.5507 0.4285 0.5 0.24 0.63 0.46 0.66 rs2228225 COSM3998894 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4972 0.2206 0.3182 0.5801 0.2941 0.5100 0.6260 0.5564 0.4301 0.4690 0.2446 0.4041 0.5695 0.2787 0.5198 0.6065 0.5235 hom 3141.04 96 12 57859431 . G A 3141.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.402;DP=96;Dels=0.00;FS=5.914;HRun=1;HaplotypeScore=1.9153;MQ=59.52;MQ0=0;MQRankSum=-0.739;QD=32.72;ReadPosRankSum=-0.946;VQSLOD=4.3827;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:3,93:96:99:3174,189,0 12 57865321 57865321 G A exonic GLI1 nonsynonymous SNV GLI1:NM_001160045:exon10:c.G2414A:p.G805D,GLI1:NM_001167609:exon11:c.G2675A:p.G892D,GLI1:NM_005269:exon12:c.G2798A:p.G933D 0.36 0.16 0.39 0.3 0.63 0.41 0.5027 0.2333 0.2927 0.3053 0.5224 0.6205 0.5502 0.4313 0.5 0.24 0.63 0.42 0.66 rs2228224 COSM3998895 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.028 0.461 D 0.1 0.241 B 0.054 0.244 B 0.011 0.296 N 0.999 0.216 P 0.55 0.145 N 2.65 0.138 T -0.53 0.164 N 0.365 0.426 -1.002 0.292 T 0.000 0.000 T . . . -0.011 0.093 2.485 0.970 0.314 0.408 0.263 N c -0.441 -0.355 0.999 0.373 0.635 0.413 0 0.557 0.164 0.925 0.282 0.953 0.551 0.992 0.373 1.000 0.888 1.941 0.031 . ENSG00000111087.5|ENSG00000123329.13 Cells_Transformed_fibroblasts|Testis 0.4985 0.2236 0.3188 0.6031 0.2942 0.5107 0.6263 0.5586 0.4301 0.4704 0.2492 0.4043 0.5973 0.2786 0.5201 0.6059 0.5224 hom 3383.37 110 12 57865321 . G A 3383.37 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.09;MQ0=0;QD=30.76;VQSLOD=8.8868;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3383,277,0 12 57865821 57865821 G C exonic GLI1 nonsynonymous SNV GLI1:NM_001160045:exon10:c.G2914C:p.E972Q,GLI1:NM_001167609:exon11:c.G3175C:p.E1059Q,GLI1:NM_005269:exon12:c.G3298C:p.E1100Q 0.59 0.79 0.48 0.4 0.67 0.5 0.6061 0.7759 0.3432 0.3717 0.5745 0.6751 0.6241 0.5097 0.71 0.77 0.68 0.73 0.66 rs2228226 COSM3998896 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.436 N 1.000 0.090 P -1.245 0.008 N 2.99 0.105 T 0.28 0.042 N 0.095 0.159 -1.052 0.138 T 0.000 0.000 T . . . 0.353 0.128 6.190 0.839 0.145 0.389 0.259 N c -0.602 -0.338 1.000 0.747 0.635 0.413 0 4.69 0.584 1.391 0.339 0.067 0.174 0.996 0.391 1.000 0.888 10.007 0.409 . ENSG00000123329.13|ENSG00000135502.12|ENSG00000166896.3|ENSG00000123329.13 Brain_Cerebellum|Lung|Muscle_Skeletal|Testis 0.6015 0.7737 0.3767 0.6882 0.3647 0.5648 0.6768 0.6458 0.5075 0.6558 0.7710 0.4737 0.6788 0.3429 0.5720 0.6562 0.5871 hom 4107.98 122 12 57865821 . G C 4107.98 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.81;MQ0=0;QD=33.67;VQSLOD=9.3834;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4108,313,0 12 57869582 57869582 T C exonic ARHGAP9 nonsynonymous SNV ARHGAP9:NM_001319851:exon7:c.A355G:p.T119A,ARHGAP9:NM_001319852:exon8:c.A793G:p.T265A,ARHGAP9:NM_001319850:exon13:c.A1558G:p.T520A 0.59 0.8 0.48 0.4 0.67 0.51 0.6279 0.7916 0.4029 0.4248 0.5980 0.6862 0.6367 0.5414 0.71 0.77 0.68 0.53 . rs2277315 COSM4147329 1(thyroid) . . . . . . . . . . . 0.725 0.039 T 0.0 0.026 B 0.0 0.013 B 0.733 0.098 N 1 0.090 P 0 0.065 N 3.1 0.083 T -0.4 0.138 N 0.145 0.171 -1.069 0.097 T 0.000 0.000 T . . . 0.427 0.135 6.844 0.515 0.045 0.004 0.019 N c -1.305 -1.415 1.000 0.500 0.543 0.218 0 -1.56 0.080 -1.421 0.025 -0.026 0.128 0.000 0.063 0.001 0.043 5.005 0.135 . ENSG00000123329.13|ENSG00000135502.12|ENSG00000166896.3|ENSG00000123329.13 Brain_Cerebellum|Lung|Muscle_Skeletal|Testis 0.5872 0.7798 0.3777 0.6896 0.3659 0.5594 0.6761 0.6321 0.5175 0.6588 0.7809 0.4726 0.68 0.3493 0.5698 0.6566 0.5892 hom 382.45 13 12 57869582 . T C 382.45 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.42;VQSLOD=13.5448;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:33.10:415,33,0 12 57870155 57870155 A C exonic ARHGAP9 nonsynonymous SNV ARHGAP9:NM_001319851:exon5:c.T118G:p.S40A,ARHGAP9:NM_001080156:exon6:c.T556G:p.S186A,ARHGAP9:NM_001319852:exon6:c.T556G:p.S186A,ARHGAP9:NM_001080157:exon7:c.T1108G:p.S370A,ARHGAP9:NM_032496:exon8:c.T1108G:p.S370A,ARHGAP9:NM_001319850:exon11:c.T1321G:p.S441A 0.37 0.13 0.39 0.33 0.62 0.47 0.5086 0.1880 0.2938 0.3323 0.5213 0.6241 0.5629 0.4760 0.49 0.2 0.64 0.41 0.63 rs11544238 COSM3931703 1(urinary_tract) Uncertain significance Coronary_artery_spasm_3\x2c_susceptibility_to RCV000001248.5 MedGen CN068477 . . . . . . 0.253 0.284 T 0.0 0.026 B 0.0 0.063 B 0.248 0.156 N 1 0.090 P 1.01 0.254 L 3.09 0.471 T -0.63 0.238 N 0.042 0.511 -0.948 0.413 T 0.000 0.000 T . . . 0.065 0.100 3.233 0.620 0.067 0.152 0.186 N c -1.003 -1.033 1.000 0.747 0.443 0.080 1 -3.35 0.046 -0.111 0.107 0.160 0.244 0.008 0.178 0.002 0.062 2.205 0.037 PH domain-like|Pleckstrin homology domain ENSG00000111087.5|ENSG00000123329.13 Cells_Transformed_fibroblasts|Testis 0.5056 0.1808 0.3189 0.6053 0.3210 0.5049 0.6317 0.5619 0.4768 0.4618 0.2055 0.4017 0.5993 0.3022 0.5155 0.6120 0.5266 hom 1713.35 53 12 57870155 . A C 1713.35 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=32.33;VQSLOD=9.4018;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1746,135,0 12 57994743 57994743 T G exonic PIP4K2C synonymous SNV PIP4K2C:NM_001146260:exon7:c.T819G:p.L273L,PIP4K2C:NM_001146258:exon8:c.T963G:p.L321L,PIP4K2C:NM_001146259:exon8:c.T909G:p.L303L,PIP4K2C:NM_024779:exon8:c.T963G:p.L321L 0.98 0.93 0.99 1. 1. 1. 0.9947 0.9451 0.9959 1 1 0.9996 1 1 0.98 0.95 1. 0.99 0.95 rs775235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9957 0.9449 0.9954 0.9987 1 1.0000 0.9996 0.9978 1 0.9851 0.9489 0.9928 1 1 1 0.9995 0.9969 hom 5417.96 150 12 57994743 . T G 5417.96 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1253;MQ=59.35;MQ0=0;QD=36.12;VQSLOD=8.9190;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:5417,433,0 12 57995089 57995089 T C exonic PIP4K2C synonymous SNV PIP4K2C:NM_001146260:exon8:c.T999C:p.A333A,PIP4K2C:NM_001146258:exon9:c.T1143C:p.A381A,PIP4K2C:NM_001146259:exon9:c.T1089C:p.A363A,PIP4K2C:NM_024779:exon9:c.T1143C:p.A381A 0.91 0.68 0.97 1. 1. 1. 0.9731 0.7148 0.9838 0.9999 1 0.9986 0.9912 0.9995 0.91 0.73 1. 0.88 0.95 rs812873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9786 0.7112 0.9837 0.9948 1 1.0000 0.9984 0.9872 0.9995 0.9218 0.7267 0.9821 1 1 1 0.9988 0.9898 hom 4689.77 155 12 57995089 . T C 4689.77 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6978;MQ=59.61;MQ0=0;QD=30.26;VQSLOD=8.7997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:155:99:4654,352,0 12 58009372 58009372 G A exonic ARHGEF25 synonymous SNV ARHGEF25:NM_001347933:exon11:c.G1026A:p.L342L,ARHGEF25:NM_182947:exon12:c.G1116A:p.L372L,ARHGEF25:NM_001111270:exon13:c.G1233A:p.L411L 0.17 0.078 0.28 0.15 0.22 0.18 0.2110 0.0958 0.3406 0.1443 0.2344 0.2282 0.1806 0.1506 0.19 0.098 0.23 0.087 0.16 rs2277323 COSM147555 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2159 0.0942 0.3292 0.1309 0.1492 0.2272 0.2326 0.2169 0.1482 0.1883 0.1048 0.3007 0.1291 0.1533 0.2275 0.2241 0.2224 het 957.17 90 12 58009372 . G A 957.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.118;DP=90;Dels=0.00;FS=5.375;HRun=0;HaplotypeScore=1.6208;MQ=59.74;MQ0=0;MQRankSum=2.797;QD=10.64;ReadPosRankSum=-0.483;VQSLOD=4.4639;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,40:90:99:987,0,1476 12 58010163 58010163 A G exonic ARHGEF25 nonsynonymous SNV ARHGEF25:NM_001347933:exon13:c.A1427G:p.Q476R,ARHGEF25:NM_182947:exon14:c.A1517G:p.Q506R,ARHGEF25:NM_001111270:exon15:c.A1634G:p.Q545R 0.63 0.52 0.67 0.72 0.55 0.74 0.6254 0.5376 0.7447 0.7731 0.6413 0.5750 0.5806 0.7192 0.55 0.53 0.56 0.58 0.48 rs1564374 COSM4147336;COSM4147335 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.081 0.209 N 1 0.090 P -0.97 0.012 N 1.23 0.374 T 0.32 0.040 N 0.018 0.103 -0.959 0.394 T 0.000 0.000 T . . . -1.368 0.020 0.004 0.679 0.083 0.005 0.025 N c -1.245 -1.096 0.995 0.340 0.610 0.352 0 3.66 0.409 0.364 0.199 0.076 0.183 0.969 0.340 0.784 0.331 7.646 0.273 PH domain-like|Pleckstrin homology domain ENSG00000123427.11|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000123427.11|ENSG00000166896.3|ENSG00000135506.11|ENSG00000257342.1|ENSG00000166896.3|ENSG00000123427.11|ENSG00000166896.3|ENSG00000123427.11|ENSG00000166896.3|ENSG00000111012.5|ENSG00000123427.11|ENSG00000166896.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Thyroid|Whole_Blood|Whole_Blood 0.6267 0.5428 0.7285 0.4440 0.7697 0.6474 0.5745 0.5817 0.7175 0.5844 0.5537 0.6763 0.4801 0.7692 0.6228 0.5688 0.6076 het 646.62 48 12 58010163 . A G 646.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.557;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8606;MQ=60.00;MQ0=0;MQRankSum=-0.773;QD=13.47;ReadPosRankSum=0.835;VQSLOD=6.1285;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,24:48:99:677,0,682 12 58015494 58015494 G A exonic SLC26A10 nonsynonymous SNV SLC26A10:NM_133489:exon4:c.G577A:p.A193T 0.27 0.14 0.32 0.28 0.44 0.2 0.4373 0.2620 0.3569 0.3168 0.4610 0.5132 0.4878 0.3074 0.35 0.19 0.43 0.27 0.32 rs923828 COSM3753419;COSM3753420 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.391 0.108 T 0.734 0.408 P 0.501 0.459 P . . . 0.737 0.298 P 2.065 0.569 M -2.99 0.921 D -0.53 0.164 N 0.112 0.239 -1.169 0.006 T 0.000 0.000 T . . . 4.051 0.544 23.7 0.998 0.909 0.835 0.423 D c 0.132 0.151 1.000 0.747 0.652 0.477 0 3.89 0.439 1.843 0.387 1.045 0.669 0.729 0.287 0.332 0.243 11.585 0.500 SLC26A/SulP transporter domain ENSG00000123427.11|ENSG00000166896.3|ENSG00000166896.3|ENSG00000257342.1|ENSG00000166896.3|ENSG00000123427.11|ENSG00000166896.3|ENSG00000135506.11|ENSG00000257342.1|ENSG00000123427.11|ENSG00000166896.3|ENSG00000123427.11|ENSG00000257342.1|ENSG00000135506.11|ENSG00000135502.12|ENSG00000135502.12|ENSG00000166896.3|ENSG00000123427.11|ENSG00000135502.12|ENSG00000166896.3|ENSG00000166896.3|ENSG00000111012.5|ENSG00000166896.3|ENSG00000135454.9|ENSG00000123427.11|ENSG00000166896.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3456 0.1657 0.2579 0.5374 0.2286 0.3261 0.4305 0.4043 0.2460 0.3290 0.1709 0.3055 0.5033 0.2280 0.3476 0.4223 0.3732 het 178.67 11 12 58015494 . G A 178.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.715;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.382;QD=16.24;ReadPosRankSum=0.382;VQSLOD=12.2948;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:3,8:11:79.03:209,0,79 12 58019472 58019472 T G exonic SLC26A10 nonsynonymous SNV SLC26A10:NM_133489:exon14:c.T1636G:p.L546V 0.96 0.85 0.99 1. 1. 1. 0.9878 0.8788 0.9928 1 1 0.9992 0.9952 0.9999 0.96 0.88 1. 0.94 0.93 rs774895 COSM4147339 1(thyroid) . . . . . . . . . . . 0.769 0.034 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P -1.01 0.011 N -3.13 0.928 D -0.07 0.080 N 0.034 0.014 -0.988 0.331 T 0.000 0.000 T . . . 0.249 0.118 5.190 0.790 0.121 0.064 0.123 N c -0.952 -0.795 0.811 0.243 0.677 0.550 0 1.54 0.222 0.285 0.185 -0.259 0.088 1.000 0.715 0.915 0.391 7.331 0.256 . . . 0.9893 0.8759 0.9912 0.9988 1 1.0000 0.9992 0.9937 0.9999 0.9661 0.8824 0.9869 1 1 1 0.9993 0.9980 hom 3047.16 96 12 58019472 . T G 3047.16 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=31.74;VQSLOD=9.1523;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3080,238,0 12 58023981 58023981 C A exonic B4GALNT1 synonymous SNV B4GALNT1:NM_001276468:exon5:c.G501T:p.L167L,B4GALNT1:NM_001276469:exon6:c.G666T:p.L222L,B4GALNT1:NM_001478:exon6:c.G666T:p.L222L 0.21 0.28 0.28 0.13 0.21 0.17 0.2108 0.2674 0.3445 0.1444 0.2161 0.2044 0.1733 0.1421 0.23 0.26 0.21 0.14 0.14 rs715930 COSM147556 1(stomach);1(large_intestine) Benign not_specified RCV000420464.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2127 0.2727 0.3308 0.1231 0.1460 0.2076 0.2082 0.2088 0.1408 0.2243 0.2818 0.3007 0.1258 0.1588 0.2092 0.1999 0.2122 het 941.28 112 12 58023981 . C A 941.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.124;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3283;MQ=59.25;MQ0=0;MQRankSum=1.649;QD=8.40;ReadPosRankSum=-0.471;VQSLOD=3.9246;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,40:112:99:971,0,2057 12 58112189 58112189 A G exonic OS9 synonymous SNV OS9:NM_001261421:exon10:c.A1299G:p.E433E,OS9:NM_001261422:exon10:c.A1239G:p.E413E,OS9:NM_001017956:exon11:c.A1395G:p.E465E,OS9:NM_001261420:exon11:c.A1398G:p.E466E,OS9:NM_006812:exon11:c.A1395G:p.E465E 0.35 0.36 0.35 0.27 0.45 0.3 0.3813 0.3898 0.2722 0.2219 0.3522 0.4368 0.4257 0.3198 0.42 0.39 0.44 0.4 0.43 rs799265 COSM5505350 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3771 0.3828 0.2850 0.5508 0.2242 0.3492 0.4350 0.4280 0.3122 0.3929 0.3810 0.3210 0.5166 0.2226 0.3600 0.4276 0.3914 het 1049.74 94 12 58112189 . A G 1049.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.006;DP=94;Dels=0.00;FS=2.947;HRun=0;HaplotypeScore=2.5165;MQ=59.34;MQ0=0;MQRankSum=1.181;QD=11.17;ReadPosRankSum=-0.050;VQSLOD=6.4847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,40:94:99:1080,0,1470 12 58204283 58204283 T C exonic AVIL nonsynonymous SNV AVIL:NM_006576:exon6:c.A610G:p.K204E 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 . . . 1. 1. rs2172521 COSM4590415 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.477 0.083 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.182 P -0.865 0.015 N 0.73 0.507 T 1.05 0.013 N 0.079 0.083 -0.959 0.394 T 0.000 0.000 T . . . 1.290 0.220 12.22 0.987 0.449 0.030 0.078 N c -0.815 -0.651 1.000 0.437 0.554 0.283 0 5.19 0.713 0.621 0.239 0.069 0.176 0.103 0.226 0.919 0.394 9.319 0.369 ADF-H/Gelsolin-like domain|Gelsolin-like domain . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 4789.62 156 12 58204283 . T C 4789.62 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7471;MQ=58.92;MQ0=0;QD=30.70;VQSLOD=7.1430;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4789,364,0 12 58335626 58335626 A T exonic ATP23 nonsynonymous SNV ATP23:NM_033276:exon1:c.A142T:p.S48C 0.33 0.079 0.38 0.64 0.31 0.34 0.3589 0.1206 0.5119 0.6731 0.3438 0.3280 0.3329 0.3524 0.25 0.11 0.32 0.21 0.3 rs3751325 COSM431609 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.126 0.272 T 0.369 0.323 B 0.112 0.300 B 0.172 0.173 N 1 0.090 P 0.55 0.145 N 0.89 0.456 T -1.24 0.314 N 0.048 0.394 -0.965 0.383 T 0.000 0.000 T . . . -0.754 0.042 0.054 0.602 0.063 0.067 0.126 N c -1.191 -1.234 1.000 0.747 0.442 0.072 0 -0.82 0.102 0.906 0.279 -0.830 0.030 0.409 0.260 0.006 0.095 7.806 0.282 . ENSG00000123427.11|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000257698.1|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000257159.1|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000123427.11|ENSG00000166896.3|ENSG00000123427.11|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000245651.2|ENSG00000166896.3|ENSG00000123427.11|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000123427.11|ENSG00000245651.2|ENSG00000166896.3|ENSG00000257698.1|ENSG00000135452.5|ENSG00000166896.3|ENSG00000166896.3|ENSG00000257698.1|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000111012.5|ENSG00000166896.3|ENSG00000037897.12|ENSG00000166896.3|ENSG00000166896.3|ENSG00000166896.3|ENSG00000257698.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.3582 0.1082 0.4916 0.2909 0.6752 0.3393 0.3196 0.3356 0.3400 0.2865 0.1268 0.4474 0.2848 0.6882 0.3351 0.3128 0.3374 het 457.54 40 12 58335626 . A T 457.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.423;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2931;MQ=60.00;MQ0=0;MQRankSum=-0.109;QD=11.44;ReadPosRankSum=0.465;VQSLOD=5.5451;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,17:40:99:488,0,632 12 58350631 58350631 C T exonic ATP23 synonymous SNV ATP23:NM_001320409:exon5:c.C345T:p.H115H,ATP23:NM_001320408:exon6:c.C543T:p.H181H,ATP23:NM_033276:exon6:c.C699T:p.H233H,ATP23:NM_001320410:exon7:c.C345T:p.H115H 0.55 0.56 0.54 0.73 0.37 0.56 0.4689 0.5444 0.6911 0.7533 0.3711 0.3727 0.4131 0.5507 0.43 0.54 0.38 0.54 0.35 rs10122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4722 0.5486 0.6625 0.3631 0.7533 0.3754 0.3719 0.4347 0.5453 0.4442 0.5506 0.5921 0.3245 0.7658 0.3675 0.3612 0.4199 het 806.95 66 12 58350631 . C T 806.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.343;DP=66;Dels=0.00;FS=0.947;HRun=0;HaplotypeScore=1.6828;MQ=58.86;MQ0=0;MQRankSum=1.161;QD=12.23;ReadPosRankSum=-0.148;VQSLOD=6.6187;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,34:66:99:837,0,863 12 59282702 59282702 T C exonic LRIG3 synonymous SNV LRIG3:NM_001136051:exon6:c.A522G:p.T174T,LRIG3:NM_153377:exon6:c.A702G:p.T234T 0.061 0.013 0.046 0.04 0.12 0.1 0.0972 0.0275 0.0396 0.0318 0.1135 0.1209 0.1024 0.1134 0.088 0.034 0.12 0.033 0.11 rs17533647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0959 0.0264 0.0457 0.1364 0.0323 0.1163 0.1178 0.1073 0.1120 0.0842 0.0297 0.0562 0.1258 0.0378 0.1069 0.1145 0.1110 het 2454.01 203 12 59282702 . T C 2454.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.869;DP=203;Dels=0.00;FS=1.731;HRun=0;HaplotypeScore=0.8667;MQ=59.00;MQ0=0;MQRankSum=-0.188;QD=12.09;ReadPosRankSum=-1.905;VQSLOD=6.0328;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,106:203:99:2484,0,2549 12 62696599 62696599 C T exonic USP15 synonymous SNV USP15:NM_001252078:exon3:c.C246T:p.H82H,USP15:NM_001252079:exon3:c.C246T:p.H82H,USP15:NM_001351161:exon3:c.C246T:p.H82H,USP15:NM_006313:exon3:c.C246T:p.H82H 0.32 0.48 0.24 0.15 0.31 0.33 0.2863 0.4639 0.1740 0.1647 0.2412 0.2935 0.2808 0.3053 0.36 0.46 0.31 0.38 0.41 rs11174420 COSM3753434;COSM4419734 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2788 0.4662 0.1931 0.2398 0.1564 0.2467 0.3014 0.2768 0.3022 0.3211 0.4507 0.2189 0.2384 0.1405 0.2473 0.2916 0.2943 het 1981.34 183 12 62696599 . C T 1981.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.399;DP=183;Dels=0.00;FS=1.172;HRun=0;HaplotypeScore=0.8667;MQ=59.21;MQ0=0;MQRankSum=1.009;QD=10.83;ReadPosRankSum=0.523;VQSLOD=6.7301;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,82:183:99:2011,0,2760 12 62778065 62778065 A G exonic USP15 synonymous SNV USP15:NM_001351160:exon9:c.A708G:p.P236P,USP15:NM_006313:exon10:c.A1368G:p.P456P,USP15:NM_001252078:exon11:c.A1455G:p.P485P,USP15:NM_001351163:exon11:c.A456G:p.P152P,USP15:NM_001351164:exon11:c.A456G:p.P152P,USP15:NM_001351159:exon12:c.A1092G:p.P364P,USP15:NM_001351166:exon12:c.A456G:p.P152P,USP15:NM_001351165:exon13:c.A456G:p.P152P 0.56 0.52 0.56 0.58 0.63 0.51 0.6018 0.5374 0.5997 0.6042 0.7103 0.6202 0.6092 0.5251 0.59 0.53 0.62 0.56 0.68 rs2044846 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6040 0.5352 0.5959 0.5581 0.6074 0.7128 0.6198 0.6064 0.5237 0.6032 0.5273 0.5724 0.5333 0.5958 0.7228 0.6266 0.6410 hom 414.65 14 12 62778065 . A G 414.65 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.01;MQ0=0;QD=29.62;VQSLOD=7.0683;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.08:448,39,0 12 62926398 62926398 G A exonic MON2 synonymous SNV MON2:NM_001278469:exon12:c.G1581A:p.S527S,MON2:NM_001278470:exon12:c.G1581A:p.S527S,MON2:NM_001278471:exon12:c.G1581A:p.S527S,MON2:NM_015026:exon12:c.G1581A:p.S527S,MON2:NM_001278472:exon13:c.G1365A:p.S455S 0.35 0.38 0.31 0.34 0.35 0.36 0.3464 0.3985 0.2859 0.3572 0.3240 0.3459 0.3414 0.3617 0.37 0.39 0.36 0.46 0.39 rs7957417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3460 0.4017 0.2932 0.4350 0.3550 0.3241 0.3450 0.3532 0.3604 0.3567 0.4025 0.2907 0.4205 0.3465 0.3312 0.3417 0.3224 het 1877.31 144 12 62926398 . G A 1877.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.391;DP=144;Dels=0.00;FS=1.456;HRun=1;HaplotypeScore=2.7599;MQ=59.07;MQ0=0;MQRankSum=-0.490;QD=13.04;ReadPosRankSum=-0.849;VQSLOD=6.3749;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,71:144:99:1907,0,1900 12 62928633 62928633 G A exonic MON2 nonsynonymous SNV MON2:NM_001278469:exon13:c.G1642A:p.A548T,MON2:NM_001278470:exon13:c.G1642A:p.A548T,MON2:NM_001278471:exon13:c.G1642A:p.A548T,MON2:NM_015026:exon13:c.G1642A:p.A548T,MON2:NM_001278472:exon14:c.G1426A:p.A476T 0.35 0.37 0.3 0.34 0.35 0.36 0.3442 0.3750 0.2846 0.3567 0.3239 0.3457 0.3414 0.3620 0.37 0.37 0.36 0.39 0.39 rs10219555 COSM4147378;COSM4147377 1(thyroid) . . . . . . . . . . . 0.048 0.443 D 0.015 0.279 B 0.009 0.268 B 0.005 0.332 N 0.025 0.391 P 0.895 0.225 L 0.5 0.558 T -1.14 0.293 N 0.146 0.369 -0.982 0.345 T 0.000 0.000 T . . . 2.758 0.392 21.1 0.996 0.749 0.933 0.575 D c -0.053 0.098 1.000 0.410 0.706 0.609 0 4.93 0.643 3.071 0.495 0.953 0.551 1.000 0.715 0.988 0.529 11.944 0.520 . . . 0.3442 0.3787 0.2917 0.4350 0.3549 0.3239 0.3448 0.3522 0.3606 0.3497 0.3755 0.2889 0.4205 0.3514 0.3325 0.3419 0.3240 het 1171.13 120 12 62928633 . G A 1171.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.784;DP=120;Dels=0.00;FS=0.766;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;MQRankSum=0.564;QD=9.76;ReadPosRankSum=1.525;VQSLOD=6.1763;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,49:120:99:1201,0,1956 12 62979216 62979216 G A exonic MON2 synonymous SNV MON2:NM_001278470:exon32:c.G4824A:p.R1608R,MON2:NM_001278471:exon32:c.G4755A:p.R1585R,MON2:NM_001278469:exon33:c.G4842A:p.R1614R,MON2:NM_015026:exon33:c.G4842A:p.R1614R,MON2:NM_001278472:exon34:c.G4626A:p.R1542R 0.078 0.013 0.11 0.017 0.19 0.095 0.1320 0.0330 0.0810 0.0233 0.1055 0.1818 0.1567 0.0954 0.13 0.038 0.18 0.076 0.16 rs11174557 COSM3753437;COSM3753436 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1316 0.0295 0.0969 0.1787 0.0234 0.1021 0.1830 0.1620 0.0951 0.1173 0.0346 0.1014 0.1954 0.0260 0.1048 0.1757 0.1429 het 561.81 42 12 62979216 . G A 561.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.175;DP=42;Dels=0.00;FS=6.661;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=0.088;QD=13.38;ReadPosRankSum=-1.045;VQSLOD=5.0196;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,20:42:99:592,0,608 12 63544209 63544209 A G exonic AVPR1A synonymous SNV AVPR1A:NM_000706:exon1:c.T408C:p.F136F 0.65 0.85 0.64 0.46 0.54 0.7 0.6108 0.8373 0.6073 0.4559 0.5870 0.5786 0.5932 0.6932 0.66 0.83 0.58 0.74 0.52 rs1042615 COSM1562502 2(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(prostate);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6047 0.8353 0.6063 0.6926 0.4505 0.5771 0.5706 0.6090 0.6886 0.6393 0.8302 0.5943 0.7053 0.4115 0.5869 0.5676 0.6170 het 637.07 39 12 63544209 . A G 637.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.498;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.499;QD=16.34;ReadPosRankSum=-0.071;VQSLOD=11.9853;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,23:39:99:667,0,489 12 64472803 64472803 A T exonic SRGAP1 synonymous SNV SRGAP1:NM_001346201:exon9:c.A1230T:p.S410S,SRGAP1:NM_020762:exon9:c.A1230T:p.S410S 0.98 0.93 0.99 1. 1. 1. 0.9947 0.9415 0.9978 1 1 1.0000 0.9989 0.9999 0.98 0.94 1. 0.96 1. rs789710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9959 0.9406 0.9974 0.9999 1 1 0.9999 0.9987 0.9999 0.9838 0.9435 0.9964 1 1 1 0.9997 0.9969 hom 5043.71 153 12 64472803 . A T 5043.71 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8270;MQ=56.40;MQ0=0;QD=32.97;VQSLOD=3.7078;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5043,400,0 12 64519806 64519806 T C exonic SRGAP1 synonymous SNV SRGAP1:NM_001346201:exon19:c.T2205C:p.S735S,SRGAP1:NM_020762:exon19:c.T2274C:p.S758S 0.59 0.69 0.47 0.63 0.54 0.54 0.5465 0.6930 0.4336 0.6398 0.5596 0.5335 0.5542 0.5310 0.57 0.69 0.51 0.62 0.42 rs789722 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5379 0.6977 0.4503 0.5625 0.6413 0.5577 0.5218 0.5257 0.5346 0.5822 0.6948 0.4773 0.5397 0.6627 0.5504 0.5240 0.5530 het 718.42 73 12 64519806 . T C 718.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.257;DP=73;Dels=0.00;FS=2.032;HRun=1;HaplotypeScore=1.6630;MQ=58.63;MQ0=0;MQRankSum=1.617;QD=9.84;ReadPosRankSum=1.210;VQSLOD=5.8802;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,27:73:99:748,0,1281 12 64587633 64587633 C A exonic C12orf66 nonsynonymous SNV C12orf66:NM_001300940:exon3:c.G1327T:p.A443S,C12orf66:NM_001300941:exon3:c.G1168T:p.A390S,C12orf66:NM_152440:exon3:c.G1327T:p.A443S 1. 0.99 1. 1. 1. 1. 0.9982 0.9794 0.9992 1 1 1.0000 1 0.9999 0.99 0.98 1. 1. 0.98 rs699638 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.214 P -1.905 0.002 N 1.99 0.217 T 1.2 0.011 N 0.12 0.168 -0.951 0.409 T 0.000 0.000 T . . . -0.057 0.088 2.070 0.176 0.005 0.322 0.243 N c -0.654 -0.375 1.000 0.747 0.638 0.428 0 6.07 0.987 6.205 0.719 0.242 0.267 1.000 0.715 0.499 0.271 13.740 0.622 . . . 0.9985 0.9772 0.9993 0.9999 1 1 1.0000 0.9998 1.0000 0.9938 0.9784 0.9976 1 1 1 0.9999 1 hom 1814.79 57 12 64587633 . C A 1814.79 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=31.84;VQSLOD=8.7759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1848,150,0 12 64609562 64609562 C T exonic C12orf66 nonsynonymous SNV C12orf66:NM_001300940:exon2:c.G417A:p.M139I,C12orf66:NM_001300941:exon2:c.G258A:p.M86I,C12orf66:NM_152440:exon2:c.G417A:p.M139I 0.99 0.95 1. 1. 1. 1. 0.9960 0.9532 0.9984 1 1 0.9999 0.9989 0.9999 0.99 0.96 1. 0.97 0.98 rs2335390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9491 0.9981 0.9999 1 1 0.9999 0.9993 1.0000 0.9863 0.9521 0.9976 1 1 1 0.9998 1 hom 2022.89 66 12 64609562 . C T 2022.89 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8455;MQ=59.65;MQ0=0;QD=30.65;VQSLOD=9.1082;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2056,165,0 12 64875787 64875787 T A exonic TBK1 synonymous SNV TBK1:NM_013254:exon8:c.T978A:p.I326I 0.35 0.16 0.48 0.3 0.54 0.38 0.4814 0.2100 0.4087 0.3413 0.6114 0.5556 0.5103 0.4180 0.44 0.21 0.56 0.39 0.44 rs7486100 COSM3753441;COSM3753440 1(large_intestine) Benign not_specified RCV000455777.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4787 0.2013 0.4068 0.4176 0.3301 0.6100 0.5545 0.4973 0.3931 0.4451 0.2045 0.4332 0.3960 0.3015 0.6034 0.5605 0.5184 het 331.19 35 12 64875787 . T A 331.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.083;DP=35;Dels=0.00;FS=3.463;HRun=0;HaplotypeScore=0.9933;MQ=60.00;MQ0=0;MQRankSum=-1.550;QD=9.46;ReadPosRankSum=1.683;VQSLOD=4.3177;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,15:35:99:361,0,557 12 65146532 65146532 C T exonic GNS synonymous SNV GNS:NM_002076:exon2:c.G198A:p.P66P . . . . . . 0.6550 0.9069 0.5686 0.8753 0.6406 0.6006 0.6047 0.6738 0.69 0.9 0.59 0.81 0.43 rs1147096 . . Benign|Benign not_specified|Sanfilippo_syndrome RCV000079972.5|RCV000337177.1 MedGen|MedGen:SNOMED_CT CN169374|C0026706:88393000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6399 0.9130 0.5638 0.5087 0.8782 0.6352 0.5961 0.6022 0.6696 0.7087 0.9006 0.6134 0.5232 0.8918 0.6365 0.6057 0.6684 hom 1684.93 58 12 65146532 . C T 1684.93 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.30;MQ0=0;QD=29.05;VQSLOD=7.2551;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1718,132,0 12 65514266 65514266 T C exonic WIF1 synonymous SNV WIF1:NM_007191:exon2:c.A219G:p.A73A 0.82 0.76 0.71 1. 0.75 0.89 0.7765 0.7629 0.7055 0.9995 0.7637 0.7463 0.7693 0.8461 0.75 0.76 0.74 0.78 0.8 rs7301320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7751 0.7677 0.7121 0.7845 0.9994 0.7603 0.7430 0.7722 0.8463 0.7638 0.7632 0.7005 0.7881 0.9981 0.7507 0.7451 0.7612 hom 4178.04 152 12 65514266 . T C 4178.04 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4203;MQ=58.73;MQ0=0;QD=27.49;VQSLOD=7.4762;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:152:99:4177,331,0 12 66605228 66605228 A G exonic IRAK3 nonsynonymous SNV IRAK3:NM_001142523:exon4:c.A256G:p.I86V,IRAK3:NM_007199:exon5:c.A439G:p.I147V 0.71 0.42 0.9 0.58 0.92 0.88 0.8630 0.4752 0.9492 0.5895 0.9145 0.9299 0.8918 0.8930 0.78 0.49 0.93 0.66 0.81 rs1152888 COSM3736073 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.607 0.141 T 0.01 0.144 B 0.007 0.121 B 0.217 0.162 N 1 0.090 P 1.995 0.543 M -0.6 0.722 T -0.18 0.098 N 0.019 0.015 -1.024 0.225 T 0.000 0.000 T . . . -1.292 0.022 0.005 0.232 0.010 0.045 0.100 N c -0.879 -0.879 0.998 0.360 0.554 0.283 0 0.744 0.174 -0.420 0.071 0.243 0.267 0.001 0.137 0.501 0.271 4.870 0.129 Death domain|Death-like domain ENSG00000239335.4|ENSG00000239335.4|ENSG00000239335.4|ENSG00000256072.1|ENSG00000090376.4 Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Whole_Blood|Whole_Blood 0.8735 0.4706 0.9452 0.9357 0.5953 0.9113 0.9312 0.8999 0.8899 0.7826 0.4805 0.9284 0.9669 0.6157 0.9075 0.9281 0.8849 hom 2003.46 69 12 66605228 . A G 2003.46 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;QD=29.04;VQSLOD=8.7447;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2036,150,0 12 66696410 66696410 C T exonic HELB synonymous SNV HELB:NM_033647:exon1:c.C27T:p.R9R 0.3 0.14 0.33 0.18 0.53 0.39 0.4319 0.1997 0.2959 0.1939 0.3963 0.5263 0.4768 0.4282 0.43 0.22 0.54 0.25 0.54 rs3741604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4310 0.1909 0.3158 0.5941 0.1954 0.3946 0.5270 0.4654 0.4282 0.3909 0.2026 0.3684 0.6026 0.1817 0.3940 0.5163 0.4417 hom 5580.78 187 12 66696410 . C T 5580.78 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.695;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1784;MQ=59.61;MQ0=0;MQRankSum=0.833;QD=29.84;ReadPosRankSum=1.077;VQSLOD=6.2064;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,186:187:99:5580,454,0 12 66698895 66698895 T C exonic HELB nonsynonymous SNV HELB:NM_033647:exon2:c.T572C:p.L191P 0.5 0.68 0.38 0.33 0.54 0.47 0.5009 0.6476 0.3557 0.3261 0.4015 0.5326 0.5169 0.5153 0.58 0.63 0.55 0.56 0.61 rs4430553 . . . . . . . . . . . . . 0.555 0.065 T 0.0 0.026 B 0.0 0.013 B 0.535 0.116 N 1 0.090 P -2.35 0.001 N 2.63 0.129 T 1.17 0.011 N 0.073 0.074 -1.004 0.289 T 0.000 0.000 T . . . 0.304 0.123 5.728 0.886 0.176 0.000 0.002 N c -1.319 -1.236 1.000 0.423 0.609 0.349 0 1.97 0.252 0.223 0.174 -0.082 0.119 0.001 0.137 0.004 0.083 3.630 0.076 . ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5|ENSG00000127311.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.4942 0.6505 0.3850 0.6295 0.3308 0.4010 0.5324 0.5063 0.4945 0.5296 0.6510 0.4211 0.6391 0.3156 0.3996 0.5201 0.4724 hom 4721.86 156 12 66698895 . T C 4721.86 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8930;MQ=59.07;MQ0=0;QD=30.27;VQSLOD=9.2802;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4721,355,0 12 66786091 66786091 G C exonic GRIP1 nonsynonymous SNV GRIP1:NM_001178074:exon18:c.C2305G:p.Q769E,GRIP1:NM_021150:exon18:c.C2305G:p.Q769E 0.84 0.55 0.85 0.93 1. 0.99 0.9494 0.6285 0.8525 0.9441 1 0.9979 0.9744 0.9928 0.89 0.67 1. 0.8 0.99 rs13277 . . Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000247437.1|RCV000328734.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . 0.334 0.129 T 0.486 0.433 P 0.356 0.415 B 0.008 0.312 N 0.000 0.588 P 2.725 0.800 M -1.18 0.783 T -1.14 0.322 N 0.082 0.322 -1.025 0.220 T 0.000 0.000 T . . . 0.304 0.123 5.736 0.699 0.088 0.996 0.981 D c 0.245 0.255 1.000 0.747 0.706 0.609 0 4.47 0.536 7.635 0.823 1.048 0.713 1.000 0.715 0.209 0.219 17.700 0.881 . . . 0.9513 0.6230 0.8607 0.9953 0.9490 1 0.9981 0.9653 0.9932 0.8907 0.6373 0.8747 0.9967 0.9531 1 0.9984 0.9786 hom 2476.79 72 12 66786091 . G C 2476.79 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4446;MQ=59.03;MQ0=0;QD=34.40;VQSLOD=8.5387;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2510,202,0 12 68052178 68052178 G T exonic DYRK2 synonymous SNV DYRK2:NM_003583:exon2:c.G1272T:p.G424G,DYRK2:NM_006482:exon3:c.G1491T:p.G497G 0.51 0.32 0.6 0.61 0.57 0.54 0.5974 0.3539 0.7199 0.6512 0.7164 0.5955 0.5934 0.5962 0.51 0.35 0.58 0.52 0.59 rs3741644 COSM4147416 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6063 0.3481 0.7022 0.6220 0.6439 0.7176 0.5898 0.6161 0.5842 0.5573 0.3578 0.6430 0.5728 0.6328 0.7351 0.6138 0.6351 hom 2356.47 72 12 68052178 . G T 2356.47 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.68;MQ0=0;QD=32.73;VQSLOD=9.5984;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2389,205,0 12 68707287 68707287 G A exonic MDM1 nonsynonymous SNV MDM1:NM_001205028:exon11:c.C1550T:p.P517L,MDM1:NM_017440:exon11:c.C1655T:p.P552L 0.21 0.073 0.22 0.17 0.31 0.34 0.2748 0.1160 0.1841 0.1598 0.1901 0.3152 0.3029 0.3676 0.25 0.13 0.31 0.22 0.34 rs2306392 COSM3753454 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.472 0.089 T 0.001 0.102 B 0.002 0.093 B 0.017 0.278 N 1 0.090 P 0.99 0.251 L 2.25 0.178 T -2.5 0.543 D 0.029 0.031 -0.911 0.468 T 0.000 0.000 T . . . 1.596 0.253 13.83 0.228 0.009 0.769 0.375 D c -0.579 -0.473 0.235 0.185 0.651 0.465 0 2.23 0.271 3.096 0.497 0.154 0.240 0.951 0.329 0.013 0.120 9.831 0.399 . ENSG00000111554.10|ENSG00000111554.10|ENSG00000111554.10|ENSG00000111554.10|ENSG00000251301.2|ENSG00000111554.10|ENSG00000111554.10|ENSG00000111554.10|ENSG00000111554.10|ENSG00000111554.10|ENSG00000111554.10 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2720 0.1109 0.1965 0.3886 0.1580 0.1928 0.3128 0.2947 0.3666 0.2171 0.1175 0.2184 0.3775 0.1599 0.1821 0.2849 0.2378 het 1128.12 97 12 68707287 . G A 1128.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.848;DP=97;Dels=0.00;FS=5.128;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=1.426;QD=11.63;ReadPosRankSum=0.437;VQSLOD=5.0809;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,47:97:99:1158,0,1189 12 68708761 68708761 C T exonic MDM1 nonsynonymous SNV MDM1:NM_001205028:exon9:c.G1361A:p.R454H,MDM1:NM_017440:exon9:c.G1466A:p.R489H 0.69 0.86 0.74 0.45 0.72 0.63 0.6986 0.8464 0.6640 0.4202 0.7251 0.7164 0.7203 0.6918 0.76 0.84 0.71 0.67 0.77 rs2306393 COSM3753455 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.177 0.231 T 0.0 0.026 B 0.0 0.013 B 0.182 0.032 N 1 0.090 P -0.69 0.019 N 2.0 0.215 T 0.38 0.036 N 0.036 0.022 -0.998 0.306 T 0.000 0.000 T . . . 1.601 0.254 13.86 0.962 0.285 0.000 0.002 N c -1.336 -1.301 0.056 0.151 0.706 0.609 0 1.94 0.249 -0.337 0.078 -0.568 0.046 0.000 0.063 0.003 0.074 4.464 0.110 . ENSG00000256273.1|ENSG00000111554.10 Testis|Whole_Blood 0.6972 0.8496 0.6763 0.7580 0.4125 0.7309 0.7150 0.7141 0.6921 0.7268 0.8458 0.6990 0.7450 0.4075 0.7242 0.6954 0.7020 het 4029.37 249 12 68708761 . C T 4029.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.381;DP=249;DS;Dels=0.00;FS=2.299;HRun=0;HaplotypeScore=4.8223;MQ=57.83;MQ0=0;MQRankSum=0.114;QD=16.18;ReadPosRankSum=-0.458;VQSLOD=4.5099;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,123:249:99:3384,0,3360 12 68720627 68720627 G A exonic MDM1 nonsynonymous SNV MDM1:NM_001205028:exon3:c.C308T:p.T103I,MDM1:NM_017440:exon3:c.C308T:p.T103I,MDM1:NM_020128:exon3:c.C308T:p.T103I 0.68 0.81 0.74 0.45 0.72 0.64 0.6947 0.7921 0.6634 0.4223 0.7253 0.7161 0.7225 0.6975 0.74 0.79 0.71 0.64 0.78 rs962976 COSM4147417;COSM4147418 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.027 0.465 D 0.874 0.544 P 0.387 0.489 B 0.208 0.164 N 1 0.090 P 1.04 0.263 L 1.89 0.237 T -1.62 0.543 N 0.012 0.171 -1.035 0.187 T 0.000 0.000 T . . . 0.740 0.165 9.090 0.996 0.741 0.035 0.085 N c -0.501 -0.599 1.000 0.473 0.615 0.372 0 0.256 0.148 -0.086 0.111 -0.362 0.068 0.004 0.165 0.001 0.043 6.446 0.209 . ENSG00000256273.1|ENSG00000111554.10 Testis|Whole_Blood 0.6941 0.7963 0.6739 0.7580 0.4136 0.7309 0.7147 0.7143 0.6976 0.7129 0.7969 0.6945 0.7450 0.4088 0.7242 0.6953 0.7 het 735.26 78 12 68720627 . G A 735.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.719;DP=78;Dels=0.00;FS=3.415;HRun=1;HaplotypeScore=0.8321;MQ=58.03;MQ0=0;MQRankSum=0.775;QD=9.43;ReadPosRankSum=-0.486;VQSLOD=5.1528;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,29:78:99:765,0,1366 12 68724951 68724951 G T exonic MDM1 synonymous SNV MDM1:NM_001205028:exon2:c.C69A:p.S23S,MDM1:NM_001205029:exon2:c.C69A:p.S23S,MDM1:NM_017440:exon2:c.C69A:p.S23S,MDM1:NM_020128:exon2:c.C69A:p.S23S 0.67 0.81 0.74 0.45 0.72 0.64 0.6943 0.7935 0.6623 0.4218 0.7252 0.7159 0.7225 0.6954 0.74 0.79 0.71 0.64 0.77 rs3741808 COSM3998924;COSM3998926;COSM3998925 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6939 0.7977 0.6736 0.7580 0.4132 0.7310 0.7146 0.7138 0.6956 0.7133 0.7982 0.6945 0.7450 0.4090 0.7241 0.6954 0.7027 het 2575.09 213 12 68724951 . G T 2575.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.645;DP=213;Dels=0.00;FS=2.362;HRun=0;HaplotypeScore=3.9740;MQ=59.21;MQ0=0;MQRankSum=0.771;QD=12.09;ReadPosRankSum=-0.442;VQSLOD=6.1417;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,101:213:99:2605,0,2679 12 69082805 69082805 G A exonic NUP107 synonymous SNV NUP107:NM_020401:exon2:c.G72A:p.R24R 0.22 0.058 0.3 0.31 0.29 0.22 0.2536 0.0838 0.2846 0.3152 0.2707 0.2702 0.2390 0.2336 0.21 0.092 0.27 0.14 0.27 rs2259588 COSM5618820 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2575 0.0824 0.2827 0.2537 0.3120 0.2692 0.2700 0.2634 0.2330 0.2219 0.0884 0.2888 0.2550 0.3245 0.2668 0.2707 0.2684 het 1179.10 81 12 69082805 . G A 1179.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.254;DP=81;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.8254;MQ=59.14;MQ0=0;MQRankSum=0.044;QD=14.56;ReadPosRankSum=0.506;VQSLOD=5.4363;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,49:81:99:1209,0,844 12 69094607 69094607 A G exonic NUP107 synonymous SNV NUP107:NM_001330192:exon7:c.A567G:p.T189T,NUP107:NM_020401:exon7:c.A654G:p.T218T 0.0074 . 0.0043 . 0.018 0.016 0.0118 0.0020 0.0069 0.0002 0.0077 0.0132 0.0144 0.0235 0.011 0.0025 0.015 . 0.033 rs35589976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0118 0.0022 0.0077 0.0210 0.0001 0.0065 0.0136 0.0128 0.0222 0.0078 0.0016 0.0107 0.0265 0 0.0057 0.0116 0.0173 het 1253.42 102 12 69094607 . A G 1253.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.290;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1748;MQ=58.81;MQ0=0;MQRankSum=-0.010;QD=12.29;ReadPosRankSum=-1.396;VQSLOD=4.5189;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,52:102:99:1283,0,1223 12 69115698 69115698 G A exonic NUP107 synonymous SNV NUP107:NM_001330192:exon16:c.G1302A:p.Q434Q,NUP107:NM_020401:exon16:c.G1389A:p.Q463Q 0.22 0.059 0.3 0.3 0.29 0.23 0.2546 0.0844 0.2852 0.3071 0.2707 0.2726 0.2373 0.2350 0.21 0.092 0.27 0.14 0.28 rs17851475 COSM5425574 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2590 0.0834 0.2851 0.2540 0.3046 0.2688 0.2730 0.2641 0.2353 0.2218 0.0890 0.2859 0.2550 0.3071 0.2668 0.2724 0.2668 het 1167.34 81 12 69115698 . G A 1167.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.326;DP=81;Dels=0.00;FS=0.851;HRun=1;HaplotypeScore=2.5986;MQ=59.72;MQ0=0;MQRankSum=-0.052;QD=14.41;ReadPosRankSum=-0.942;VQSLOD=5.6660;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,43:81:99:1197,0,960 12 69127245 69127245 C T exonic NUP107 synonymous SNV NUP107:NM_001330192:exon24:c.C2028T:p.H676H,NUP107:NM_020401:exon24:c.C2115T:p.H705H 0.0074 . 0.0043 . 0.018 0.016 0.0120 0.0021 0.0069 0.0002 0.0077 0.0133 0.0144 0.0245 0.011 0.0025 0.015 . 0.033 rs34342902 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0117 0.0021 0.0075 0.0210 0.0002 0.0065 0.0135 0.0126 0.0215 0.0078 0.0016 0.0107 0.0265 0 0.0057 0.0116 0.0174 het 525.50 44 12 69127245 . C T 525.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.728;DP=44;Dels=0.00;FS=1.189;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=0.822;QD=11.94;ReadPosRankSum=-0.822;VQSLOD=5.7217;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,21:44:99:555,0,574 12 69260779 69260779 C T exonic CPM synonymous SNV CPM:NM_001005502:exon7:c.G837A:p.T279T,CPM:NM_001874:exon7:c.G837A:p.T279T,CPM:NM_198320:exon7:c.G837A:p.T279T 0.067 0.013 0.081 0.016 0.13 0.11 0.1033 0.0284 0.0589 0.0081 0.1279 0.1328 0.1046 0.1020 0.1 0.033 0.14 0.065 0.16 rs33925480 COSM3753459 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1032 0.0286 0.0633 0.1386 0.0092 0.1300 0.1314 0.1197 0.1004 0.0988 0.0338 0.0823 0.11 0.0093 0.1314 0.1382 0.1171 hom 2756.59 95 12 69260779 . C T 2756.59 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.27;MQ0=0;QD=29.02;VQSLOD=8.1262;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2790,214,0 12 69646914 69646914 G A exonic CPSF6 synonymous SNV CPSF6:NM_001300947:exon3:c.G354A:p.R118R,CPSF6:NM_007007:exon3:c.G354A:p.R118R 0.43 0.46 0.42 0.44 0.43 0.38 0.4304 0.4627 0.4509 0.4345 0.3902 0.4413 0.4124 0.3671 0.44 0.45 0.44 0.47 0.35 rs2305641 COSM5450708;COSM5450709;COSM5450707 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4258 0.4570 0.4401 0.3910 0.4313 0.3943 0.4435 0.4121 0.3582 0.4460 0.4549 0.4378 0.4007 0.4594 0.3829 0.4577 0.4110 het 534.75 45 12 69646914 . G A 534.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.192;DP=45;Dels=0.00;FS=1.126;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.987;QD=11.88;ReadPosRankSum=0.148;VQSLOD=5.8009;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:565,0,518 12 69744014 69744014 C A exonic LYZ nonsynonymous SNV LYZ:NM_000239:exon2:c.C263A:p.T88N 0.015 0.0008 0.029 . 0.044 0.0082 0.0427 0.0087 0.0201 0 0.0432 0.0657 0.0441 0.0096 0.05 0.013 0.07 . 0.098 rs1800973 COSM3753461 1(large_intestine) Benign Familial_visceral_amyloidosis\x2c_Ostertag_type RCV000277779.1 MedGen:OMIM:Orphanet:SNOMED_CT C0268389:105200:ORPHA85450:66451004 . . . . . . 0.004 0.682 D 0.977 0.566 D 0.982 0.739 D 0.000 0.843 D 1.000 0.588 D 3.87 0.960 H -0.49 0.704 T -4.25 0.764 D 0.18 0.251 -0.537 0.673 T 0.103 0.379 T . . . 5.041 0.679 25.2 0.989 0.481 0.914 0.533 D c 0.584 0.523 1.000 0.747 0.487 0.133 0 5.94 0.962 2.849 0.477 0.935 0.490 0.993 0.376 0.760 0.324 17.867 0.887 Lysozyme-like domain . . 0.0424 0.0093 0.0233 0.0732 0 0.0400 0.0660 0.0436 0.0096 0.0441 0.0110 0.0274 0.0728 0 0.0436 0.0685 0.0448 het 1565.59 152 12 69744014 . C A 1565.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.533;DP=152;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.8440;MQ=58.85;MQ0=0;MQRankSum=0.156;QD=10.30;ReadPosRankSum=-0.430;VQSLOD=5.7155;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,66:152:99:1596,0,2277 12 69986788 69986788 A G exonic CCT2 synonymous SNV CCT2:NM_001198842:exon9:c.A642G:p.T214T,CCT2:NM_006431:exon9:c.A783G:p.T261T 0.22 0.084 0.19 0.3 0.26 0.29 0.2243 0.0986 0.1606 0.2859 0.2079 0.2347 0.2467 0.2792 0.19 0.1 0.23 0.18 0.19 rs1043434 COSM4147425 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2239 0.1002 0.1709 0.2529 0.2869 0.2050 0.2317 0.2430 0.2804 0.1891 0.1098 0.1862 0.2119 0.2924 0.2167 0.2152 0.2214 het 756.56 77 12 69986788 . A G 756.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.298;DP=77;Dels=0.00;FS=1.951;HRun=1;HaplotypeScore=1.9949;MQ=58.98;MQ0=0;MQRankSum=-0.369;QD=9.70;ReadPosRankSum=0.338;VQSLOD=6.4389;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,31:77:99:787,0,1125 12 70091432 70091432 T C exonic BEST3 synonymous SNV BEST3:NM_001282614:exon2:c.A147G:p.V49V,BEST3:NM_032735:exon2:c.A147G:p.V49V 0.97 0.9 0.99 1. 1. 1. 0.9933 0.9241 0.9962 1 1 0.9998 0.9978 0.9999 0.98 0.92 1. 0.92 0.96 rs775429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9229 0.9963 0.9989 1 1 0.9998 0.9963 1.0000 0.9774 0.9207 0.9976 1 1 1 0.9997 0.9980 hom 2798.66 86 12 70091432 . T C 2798.66 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9328;MQ=59.14;MQ0=0;QD=32.54;VQSLOD=9.7578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2832,223,0 12 70928616 70928616 G A exonic PTPRB synonymous SNV PTPRB:NM_001206971:exon27:c.C5277T:p.C1759C,PTPRB:NM_001206972:exon27:c.C5277T:p.C1759C,PTPRB:NM_002837:exon28:c.C5547T:p.C1849C,PTPRB:NM_001330204:exon29:c.C5937T:p.C1979C,PTPRB:NM_001109754:exon30:c.C6201T:p.C2067C 0.39 0.45 0.34 0.53 0.31 0.29 0.3482 0.4449 0.3701 0.5231 0.2864 0.3199 0.3493 0.3235 0.35 0.42 0.31 0.38 . rs3752703 COSM1364005;COSM1364003;COSM1364004 2(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3438 0.4446 0.3631 0.3382 0.5220 0.2804 0.3150 0.3316 0.3265 0.3534 0.4382 0.3289 0.3146 0.5174 0.2702 0.3102 0.3194 het 569.67 72 12 70928616 . G A 569.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.126;DP=72;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=0.8941;MQ=59.74;MQ0=0;MQRankSum=-1.485;QD=7.91;ReadPosRankSum=1.099;VQSLOD=5.0094;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,23:72:99:600,0,1206 12 70928724 70928724 A G exonic PTPRB synonymous SNV PTPRB:NM_001206971:exon27:c.T5169C:p.D1723D,PTPRB:NM_001206972:exon27:c.T5169C:p.D1723D,PTPRB:NM_002837:exon28:c.T5439C:p.D1813D,PTPRB:NM_001330204:exon29:c.T5829C:p.D1943D,PTPRB:NM_001109754:exon30:c.T6093C:p.D2031D 0.98 1. 0.96 1. 0.94 0.99 0.9668 0.9912 0.9768 0.9999 0.9790 0.9510 0.9667 0.9873 0.96 0.99 0.95 0.96 . rs582954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9661 0.9918 0.9738 0.9408 0.9998 0.9786 0.9499 0.9567 0.9859 0.9698 0.9936 0.9809 0.9536 0.9994 0.9757 0.9506 0.9755 hom 2934.13 96 12 70928724 . A G 2934.13 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=30.56;VQSLOD=9.1346;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2967,229,0 12 70953277 70953277 T C exonic PTPRB synonymous SNV PTPRB:NM_001206971:exon15:c.A3636G:p.A1212A,PTPRB:NM_001206972:exon15:c.A3636G:p.A1212A,PTPRB:NM_002837:exon16:c.A3906G:p.A1302A,PTPRB:NM_001330204:exon17:c.A4296G:p.A1432A,PTPRB:NM_001109754:exon18:c.A4560G:p.A1520A 0.2 0.19 0.15 0.14 0.21 0.31 0.2162 0.1866 0.1672 0.1532 0.2209 0.2122 0.2311 0.3146 0.21 0.18 0.22 0.21 . rs2303963 COSM3753470;COSM3753468;COSM3753469 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2138 0.1814 0.1640 0.2492 0.1484 0.2184 0.2115 0.2091 0.3157 0.1986 0.1889 0.1850 0.2450 0.1582 0.2100 0.2063 0.1894 het 2643.27 238 12 70953277 . T C 2643.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.216;DP=238;DS;Dels=0.00;FS=1.655;HRun=0;HaplotypeScore=2.7960;MQ=58.90;MQ0=0;MQRankSum=-0.423;QD=11.11;ReadPosRankSum=-0.792;VQSLOD=6.2710;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:133,104:238:99:2673,0,3646 12 71139664 71139664 T C exonic PTPRR nonsynonymous SNV PTPRR:NM_130846:exon2:c.A206G:p.K69R,PTPRR:NM_001207016:exon3:c.A323G:p.K108R,PTPRR:NM_001207015:exon5:c.A605G:p.K202R,PTPRR:NM_002849:exon6:c.A941G:p.K314R 0.68 0.28 0.8 0.94 0.78 0.76 0.7623 0.3641 0.8460 0.9214 0.8078 0.7879 0.7775 0.7495 0.65 0.38 0.79 0.63 0.7 rs3803036 COSM4147440 1(pancreas);1(thyroid) . . . . . . . . . . . 0.608 0.074 T 0.002 0.090 B 0.002 0.063 B 0.069 0.216 N 1.000 0.197 P 0.77 0.194 N 1.46 0.322 T -0.37 0.181 N 0.055 0.367 -1.021 0.233 T 0.000 0.000 T . . . 0.763 0.167 9.234 0.966 0.299 0.760 0.370 D c -0.759 -0.602 0.941 0.274 0.487 0.133 0 0.593 0.166 0.831 0.269 -0.210 0.100 1.000 0.715 0.694 0.308 9.085 0.356 . . . 0.7734 0.3617 0.8394 0.7872 0.9223 0.8115 0.7857 0.7703 0.7466 0.6827 0.3886 0.8162 0.7881 0.9287 0.8050 0.7845 0.7510 hom 2736.84 83 12 71139664 . T C 2736.84 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7030;MQ=58.82;MQ0=0;QD=32.97;VQSLOD=8.4503;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2770,217,0 12 71523134 71523134 A C exonic TSPAN8 nonsynonymous SNV TSPAN8:NM_004616:exon8:c.T637G:p.S213A 0.25 0.12 0.23 0.29 0.4 0.25 0.3449 0.1771 0.1635 0.3095 0.3533 0.4177 0.3442 0.2941 0.34 0.19 0.41 0.29 0.26 rs1051334 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -2.76 0.000 N -1.04 0.766 T 1.68 0.006 N 0.058 0.043 -0.957 0.397 T 0.000 0.000 T . . . 1.041 0.194 10.89 0.356 0.022 0.016 0.052 N c -0.976 -0.607 0.000 0.068 0.554 0.246 0 4.88 0.630 1.596 0.361 0.067 0.174 0.994 0.380 0.985 0.512 12.030 0.525 . ENSG00000258053.1|ENSG00000258053.1 Colon_Transverse|Muscle_Skeletal 0.3363 0.1573 0.1696 0.4262 0.2975 0.3543 0.4123 0.3389 0.2869 0.3119 0.1740 0.2235 0.4735 0.3112 0.3330 0.3899 0.3374 het 442.92 39 12 71523134 . A C 442.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.510;DP=39;Dels=0.00;FS=2.814;HRun=0;HaplotypeScore=0.0000;MQ=57.65;MQ0=0;MQRankSum=-0.267;QD=11.36;ReadPosRankSum=0.183;VQSLOD=4.9720;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,19:39:99:473,0,405 12 71533534 71533534 C G exonic TSPAN8 nonsynonymous SNV TSPAN8:NM_004616:exon4:c.G218C:p.G73A 0.23 0.038 0.22 0.28 0.4 0.25 0.3332 0.0886 0.1569 0.3076 0.3477 0.4139 0.3359 0.2921 0.31 0.11 0.41 0.26 0.35 rs3763978 COSM1364054 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(pancreas);3(prostate) . . . . . . . . . . . 0.033 0.443 D 0.999 0.764 D 0.989 0.769 D 0.000 0.843 D 0.000 0.588 P 3.625 0.941 H -3.52 0.947 D -5.91 0.889 D 0.381 0.441 -1.673 0.000 T 0.000 0.000 T . . . 4.147 0.556 23.8 0.998 0.909 0.961 0.675 D c 0.807 0.693 1.000 0.462 0.516 0.203 0 5.09 0.685 4.681 0.611 0.935 0.490 1.000 0.715 0.977 0.480 16.363 0.831 Tetraspanin\x2c conserved site ENSG00000258053.1|ENSG00000127324.4|ENSG00000258053.1|ENSG00000258053.1 Colon_Transverse|Liver|Muscle_Skeletal|Nerve_Tibial 0.3300 0.0824 0.1733 0.4106 0.3030 0.3511 0.4147 0.3369 0.2904 0.2915 0.0960 0.2261 0.45 0.3099 0.3377 0.3896 0.3480 het 2520.44 223 12 71533534 . C G 2520.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.633;DP=223;DS;Dels=0.00;FS=6.531;HRun=0;HaplotypeScore=4.5019;MQ=59.06;MQ0=0;MQRankSum=0.357;QD=11.30;ReadPosRankSum=-2.270;VQSLOD=3.4637;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,95:223:99:2550,0,3513 12 71950456 71950456 C T exonic LGR5 synonymous SNV LGR5:NM_001277227:exon5:c.C486T:p.H162H,LGR5:NM_001277226:exon6:c.C702T:p.H234H,LGR5:NM_003667:exon6:c.C702T:p.H234H 0.0004 . . . 0.002 . 0.0011 0.0004 0.0005 0 0 0.0018 0 0 0.0016 0.0005 0.0022 . . rs140637499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0012 0.0003 0.0013 0.0010 0 4.486e-05 0.0020 0.0015 0 0.0009 0.0002 0 0.0033 0 0.0009 0.0014 0 het 1366.45 132 12 71950456 . C T 1366.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.124;DP=132;Dels=0.00;FS=0.722;HRun=0;HaplotypeScore=4.6103;MQ=59.37;MQ0=0;MQRankSum=-0.901;QD=10.35;ReadPosRankSum=0.948;VQSLOD=3.6422;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,58:132:99:1396,0,2124 12 71960208 71960208 G A exonic LGR5 synonymous SNV LGR5:NM_001277226:exon8:c.G810A:p.Q270Q,LGR5:NM_001277227:exon8:c.G666A:p.Q222Q,LGR5:NM_003667:exon9:c.G882A:p.Q294Q 0.87 0.59 0.96 0.99 0.98 0.95 0.9504 0.6236 0.9787 0.9958 0.9753 0.9850 0.9624 0.9616 0.87 0.63 0.98 0.79 0.88 rs1797372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9575 0.6141 0.9756 0.9891 0.9970 0.9775 0.9845 0.9665 0.9618 0.8823 0.6244 0.9714 0.9901 0.9975 0.9751 0.9853 0.9652 hom 2096.90 69 12 71960208 . G A 2096.90 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=58.10;MQ0=0;QD=30.39;VQSLOD=7.4296;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2130,166,0 12 72164395 72164395 C T exonic RAB21 synonymous SNV RAB21:NM_014999:exon3:c.C243T:p.F81F 0.16 0.045 0.22 0.31 0.11 0.17 0.1356 0.0531 0.2584 0.3170 0.1426 0.0915 0.1481 0.1810 0.078 0.054 0.09 0.13 0.09 rs3741688 COSM4147445 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1401 0.0523 0.2421 0.0949 0.3148 0.1359 0.0892 0.1256 0.1796 0.1035 0.0535 0.1933 0.1093 0.3397 0.1280 0.0945 0.1303 het 388.48 36 12 72164395 . C T 388.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.055;DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=57.64;MQ0=0;MQRankSum=-0.343;QD=10.79;ReadPosRankSum=-0.994;VQSLOD=6.5667;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:36:99:418,0,560 12 72307616 72307616 A G exonic TBC1D15 synonymous SNV TBC1D15:NM_001146213:exon12:c.A1311G:p.Q437Q,TBC1D15:NM_001146214:exon13:c.A1335G:p.Q445Q,TBC1D15:NM_022771:exon13:c.A1362G:p.Q454Q 0.67 0.93 0.56 0.88 0.27 0.56 0.4531 0.8732 0.6932 0.9018 0.3192 0.2807 0.4060 0.5374 0.47 0.85 0.28 0.69 0.27 rs3759171 COSM3753485;COSM3753484 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4333 0.8793 0.6585 0.2667 0.9019 0.3206 0.2784 0.3749 0.5319 0.5013 0.8615 0.5793 0.27 0.9092 0.3121 0.2991 0.3888 het 651.94 60 12 72307616 . A G 651.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.321;DP=60;Dels=0.00;FS=5.443;HRun=2;HaplotypeScore=0.5784;MQ=57.47;MQ0=0;MQRankSum=0.882;QD=10.87;ReadPosRankSum=0.821;VQSLOD=3.9799;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,22:60:99:682,0,929 12 72312268 72312268 G A exonic TBC1D15 synonymous SNV TBC1D15:NM_001146213:exon14:c.G1539A:p.R513R,TBC1D15:NM_001146214:exon15:c.G1563A:p.R521R,TBC1D15:NM_022771:exon15:c.G1590A:p.R530R 0.17 0.39 0.076 0.038 0.075 0.15 0.1197 0.3885 0.0532 0.0474 0.0836 0.0945 0.1145 0.1517 0.19 0.38 0.099 0.22 0.11 rs11178985 COSM3753487;COSM3753486 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1087 0.3878 0.0542 0.1002 0.0427 0.0855 0.0948 0.0945 0.1413 0.1783 0.3844 0.0776 0.1133 0.0478 0.0819 0.1051 0.1314 het 1190.91 112 12 72312268 . G A 1190.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.475;DP=112;Dels=0.00;FS=1.531;HRun=0;HaplotypeScore=2.9871;MQ=58.48;MQ0=0;MQRankSum=2.173;QD=10.63;ReadPosRankSum=-0.925;VQSLOD=5.4737;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,52:112:99:1221,0,1496 12 72416235 72416235 A T exonic TPH2 synonymous SNV TPH2:NM_173353:exon9:c.A1125T:p.A375A 0.49 0.39 0.49 0.47 0.62 0.51 0.5732 0.4108 0.5203 0.4860 0.5216 0.6374 0.5716 0.5191 0.57 0.42 0.64 0.54 0.63 rs4290270 COSM3753489 1(thyroid);1(large_intestine) Likely benign Tryptophan_5-monooxygenase_deficiency RCV000405228.1 MedGen CN120491 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5715 0.4048 0.5209 0.6166 0.4820 0.5273 0.6403 0.6018 0.5228 0.5431 0.4101 0.5395 0.5960 0.4650 0.5186 0.6315 0.5770 het 1650.21 130 12 72416235 . A T 1650.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.142;DP=130;Dels=0.00;FS=2.258;HRun=1;HaplotypeScore=3.4415;MQ=58.87;MQ0=0;MQRankSum=1.615;QD=12.69;ReadPosRankSum=1.354;VQSLOD=5.4671;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,68:130:99:1680,0,1502 12 76449900 76449900 T C exonic NAP1L1 synonymous SNV NAP1L1:NM_001330232:exon5:c.A282G:p.K94K,NAP1L1:NM_001307924:exon7:c.A471G:p.K157K,NAP1L1:NM_001330231:exon7:c.A471G:p.K157K,NAP1L1:NM_004537:exon7:c.A471G:p.K157K,NAP1L1:NM_139207:exon7:c.A471G:p.K157K 0.92 0.96 0.86 1. 0.81 0.94 0.8650 0.9436 0.9181 0.9995 0.8251 0.8124 0.8625 0.9362 0.86 0.94 0.81 0.88 0.56 rs1059143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8640 0.9444 0.9042 0.8459 0.9994 0.8227 0.8111 0.8424 0.9352 0.8611 0.9439 0.8771 0.8477 0.9969 0.8171 0.8093 0.8374 hom 1449.64 45 12 76449900 . T C 1449.64 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.00;MQ0=0;QD=32.21;VQSLOD=9.0100;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1483,117,0 12 76453966 76453966 G A exonic NAP1L1 synonymous SNV NAP1L1:NM_001330232:exon3:c.C111T:p.H37H,NAP1L1:NM_001307924:exon5:c.C300T:p.H100H,NAP1L1:NM_001330231:exon5:c.C300T:p.H100H,NAP1L1:NM_004537:exon5:c.C300T:p.H100H,NAP1L1:NM_139207:exon5:c.C300T:p.H100H 0.59 0.25 0.62 0.96 0.59 0.64 0.6214 0.3026 0.7530 0.9583 0.6660 0.6035 0.6035 0.6089 0.51 0.32 0.6 0.5 0.57 rs4663 COSM4965461 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6332 0.3001 0.7338 0.5874 0.9534 0.6702 0.6049 0.5966 0.6065 0.5575 0.3128 0.6782 0.5906 0.9616 0.6681 0.6192 0.6191 hom 2601.72 83 12 76453966 . G A 2601.72 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=31.35;VQSLOD=8.8213;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2635,214,0 12 77438436 77438436 T C exonic E2F7 synonymous SNV E2F7:NM_203394:exon6:c.A969G:p.P323P 0.19 0.1 0.25 0.16 0.26 0.22 0.2486 0.1271 0.2226 0.1530 0.2658 0.2852 0.2753 0.2375 0.23 0.13 0.28 0.2 0.26 rs2242384 COSM3753496;COSM147566 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2481 0.1208 0.2232 0.2979 0.1522 0.2704 0.2810 0.2591 0.2386 0.2275 0.1321 0.2823 0.2914 0.1418 0.2652 0.2760 0.2749 hom 4121.64 145 12 77438436 . T C 4121.64 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7076;MQ=59.32;MQ0=0;QD=28.43;VQSLOD=8.3377;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,144:145:99:4121,322,0 12 77440011 77440011 C G exonic E2F7 synonymous SNV E2F7:NM_203394:exon5:c.G636C:p.R212R 0.018 . 0.019 . 0.017 0.059 0.0195 0.0035 0.0092 0 0.0032 0.0225 0.0220 0.0414 0.017 0.0041 0.024 . 0.033 rs61754234 COSM3753497;COSM3753498 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0201 0.0029 0.0102 0.0763 5.798e-05 0.0041 0.0207 0.0266 0.0406 0.0121 0.0031 0.0263 0.0795 0 0.0052 0.0179 0.0163 het 2110.61 161 12 77440011 . C G 2110.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.587;DP=161;Dels=0.00;FS=11.289;HRun=1;HaplotypeScore=5.1832;MQ=59.05;MQ0=0;MQRankSum=-1.433;QD=13.11;ReadPosRankSum=0.198;VQSLOD=2.9843;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,82:161:99:2141,0,2195 12 77449790 77449790 A G exonic E2F7 nonsynonymous SNV E2F7:NM_203394:exon3:c.T214C:p.F72L 0.86 0.66 0.89 1. 0.9 0.91 0.8926 0.7121 0.9341 0.9995 0.9370 0.8927 0.8811 0.9039 0.84 0.72 0.9 0.86 0.88 rs310791 COSM5000694;COSM5000693 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.007 0.319 N 1.000 0.090 P -1.67 0.004 N -1.83 0.841 D 1.27 0.010 N 0.003 0.287 -0.931 0.440 T 0.000 0.000 T . . . 0.049 0.098 3.073 0.224 0.009 0.026 0.071 N c -0.889 -0.624 0.999 0.382 0.732 0.924 0 5.7 0.886 2.052 0.407 0.138 0.222 0.991 0.370 0.117 0.195 6.263 0.200 . . . 0.8992 0.7078 0.9276 0.8583 0.9997 0.9336 0.8969 0.8845 0.9061 0.8609 0.7193 0.8909 0.9007 0.9994 0.9393 0.9051 0.8951 het 1608.66 144 12 77449790 . A G 1608.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.740;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5718;MQ=58.14;MQ0=0;MQRankSum=0.567;QD=11.17;ReadPosRankSum=-0.940;VQSLOD=5.5225;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,66:144:99:1639,0,1849 12 78225374 78225374 A G exonic NAV3 nonsynonymous SNV NAV3:NM_001024383:exon1:c.A133G:p.T45A,NAV3:NM_014903:exon1:c.A133G:p.T45A 0.98 0.91 0.99 1. 1. 1. 0.9928 0.9177 0.9966 1 1 0.9998 0.9978 1 0.97 0.92 1. 0.95 1. rs10735309 . . . . . . . . . . . . . 0.65 0.048 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -0.345 0.033 N 0.32 0.585 T 0.39 0.045 N 0.004 0.135 -0.940 0.427 T 0.000 0.000 T . . . -0.007 0.093 2.519 0.746 0.104 0.557 0.297 D c -0.765 -0.497 1.000 0.424 0.616 0.392 0 4.51 0.544 0.994 0.291 -0.231 0.094 0.995 0.385 0.994 0.587 4.018 0.091 Calponin homology domain . . 0.9942 0.9177 0.9965 1 1 1 0.9998 0.9967 0.9999 0.9773 0.9210 0.9964 1 1 1 0.9997 0.9959 hom 4045.33 122 12 78225374 . A G 4045.33 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.986;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2001;MQ=59.43;MQ0=0;MQRankSum=1.119;QD=33.16;ReadPosRankSum=-1.522;VQSLOD=8.4972;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,120:122:99:4000,271,0 12 78542699 78542699 T C exonic NAV3 synonymous SNV NAV3:NM_001024383:exon22:c.T4785C:p.N1595N,NAV3:NM_014903:exon22:c.T4785C:p.N1595N 0.37 0.31 0.47 0.5 0.34 0.26 0.3615 0.3169 0.6258 0.4958 0.4178 0.3257 0.3415 0.2529 0.31 0.3 0.31 0.37 0.25 rs366527 COSM3998956;COSM3998957 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3625 0.3007 0.5918 0.2526 0.4865 0.4093 0.3159 0.3493 0.2469 0.3328 0.3000 0.5132 0.2416 0.4893 0.3942 0.3117 0.3469 het 373.29 26 12 78542699 . T C 373.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.978;DP=26;Dels=0.00;FS=1.909;HRun=0;HaplotypeScore=0.6651;MQ=58.20;MQ0=0;MQRankSum=0.026;QD=14.36;ReadPosRankSum=-0.079;VQSLOD=5.4886;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,16:26:99:403,0,272 12 79611374 79611374 C T exonic SYT1 synonymous SNV SYT1:NM_001135806:exon3:c.C75T:p.N25N,SYT1:NM_001291901:exon3:c.C75T:p.N25N,SYT1:NM_005639:exon4:c.C75T:p.N25N,SYT1:NM_001135805:exon5:c.C75T:p.N25N 0.63 0.78 0.72 0.46 0.69 0.45 0.6681 0.7742 0.7615 0.4182 0.7394 0.6986 0.6490 0.516 0.72 0.78 0.69 0.67 0.63 rs2037743 COSM4147474 1(haematopoietic_and_lymphoid_tissue);21(soft_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6671 0.7779 0.7581 0.6303 0.4127 0.7314 0.6970 0.6669 0.5129 0.7031 0.7737 0.7662 0.6258 0.4032 0.7378 0.6837 0.7112 het 1169.08 101 12 79611374 . C T 1169.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.245;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.21;MQ0=0;MQRankSum=0.121;QD=11.58;ReadPosRankSum=-0.066;VQSLOD=6.4767;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,48:101:99:1199,0,1445 12 80014907 80014907 A T exonic PAWR synonymous SNV PAWR:NM_002583:exon3:c.T597A:p.I199I 0.52 0.15 0.74 0.51 0.82 0.55 0.6951 0.2438 0.7213 0.4750 0.8225 0.8031 0.6883 0.5892 0.77 0.34 0.99 0.41 0.8 rs2307223 COSM3753503 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7068 0.2361 0.7352 0.6829 0.4762 0.8211 0.8091 0.7287 0.5904 0.6412 0.2570 0.7488 0.7020 0.5218 0.8137 0.8214 0.7724 hom 7356.13 250 12 80014907 . A T 7356.13 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5333;MQ=59.00;MQ0=0;QD=29.42;VQSLOD=6.6185;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7355,590,0 12 80735771 80735771 T C exonic OTOGL synonymous SNV OTOGL:NM_173591:exon43:c.T5067C:p.N1689N 0.49 0.18 0.49 0.69 0.65 0.56 0.6151 0.2846 0.4438 0.7178 0.6989 0.6593 0.6329 0.6303 0.53 0.29 0.64 0.51 . rs10778727 COSM5425454;COSM5425453 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000218445.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5846 0.2441 0.4038 0.6249 0.7080 0.6884 0.6371 0.5908 0.6059 0.5329 0.2594 0.3988 0.6490 0.7254 0.6812 0.6376 0.6018 het 179.07 25 12 80735771 . T C 179.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.414;DP=25;Dels=0.00;FS=1.706;HRun=0;HaplotypeScore=0.9983;MQ=58.06;MQ0=0;MQRankSum=0.915;QD=7.16;ReadPosRankSum=0.194;VQSLOD=4.8098;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,10:25:99:209,0,425 12 80747242 80747242 A G exonic OTOGL nonsynonymous SNV OTOGL:NM_173591:exon45:c.A5518G:p.I1840V 0.83 0.81 0.83 0.81 0.85 0.88 0.8531 0.8104 0.8004 0.8267 0.8233 0.8659 0.8475 0.8889 0.85 0.81 0.86 0.89 . rs7297767 COSM5425995;COSM5425994 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000216586.1 MedGen CN169374 . . . . . . 0.206 0.199 T . . . . . . . . . 0.999 0.217 P -0.16 0.043 N -1.11 0.775 T -0.57 0.172 N 0.05 0.094 -0.982 0.345 T 0.000 0.000 T . . . 0.566 0.148 7.921 0.843 0.147 0.149 0.184 N c -0.438 -0.450 1.000 0.500 0.554 0.246 0 0.8 0.177 0.979 0.289 1.199 0.960 0.227 0.244 0.995 0.604 10.395 0.432 Trypsin Inhibitor-like\x2c cysteine rich domain ENSG00000139304.8|ENSG00000165899.6|ENSG00000139304.8 Artery_Tibial|Esophagus_Mucosa|Heart_Atrial_Appendage 0.8420 0.8051 0.7920 0.8445 0.8197 0.8214 0.8591 0.8291 0.8861 0.8361 0.8147 0.8174 0.8278 0.8387 0.8230 0.8535 0.8204 het 305.61 22 12 80747242 . A G 305.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.077;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-0.099;QD=13.89;ReadPosRankSum=0.495;VQSLOD=6.9486;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,12:22:99:336,0,256 12 80752660 80752660 A G exonic OTOGL nonsynonymous SNV OTOGL:NM_173591:exon51:c.A6220G:p.I2074V 0.96 0.98 0.96 1. 0.93 0.95 0.9400 0.9595 0.9547 1 0.9762 0.9166 0.9621 0.9504 0.94 0.96 0.92 0.99 . rs2034528 . . Uncertain significance|Benign not_specified|not_specified RCV000217831.1|RCV000219383.1 MedGen|MedGen CN169374|CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.353 0.138 N 1 0.090 P -1.265 0.007 N 2.46 0.411 T 0.5 0.030 N 0.101 0.104 -0.957 0.398 T 0.000 0.000 T . . . -0.369 0.064 0.460 0.287 0.015 0.043 0.097 N c -1.237 -1.094 0.000 0.012 0.615 0.372 0 0.351 0.152 0.553 0.229 0.104 0.200 0.232 0.244 0.990 0.544 10.109 0.415 . ENSG00000139304.8|ENSG00000139304.8 Artery_Aorta|Artery_Tibial 0.9409 0.9622 0.9570 0.8950 0.9997 0.9708 0.9210 0.9237 0.9493 0.9461 0.9569 0.9474 0.8709 0.9988 0.9728 0.9297 0.9408 hom 345.63 11 12 80752660 . A G 345.63 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.42;VQSLOD=13.4331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:379,30,0 12 80765800 80765800 A G exonic OTOGL nonsynonymous SNV OTOGL:NM_173591:exon56:c.A6710G:p.N2237S 0.48 0.11 0.48 0.7 0.65 0.61 0.5893 0.1905 0.3955 0.7085 0.6862 0.6449 0.6168 0.6392 0.5 0.22 0.64 0.49 . rs1551122 COSM3931748;COSM3931750;COSM3931749 2(haematopoietic_and_lymphoid_tissue);1(urinary_tract) Benign not_specified RCV000219238.1 MedGen CN169374 . . . . . . 0.05 0.395 D 0.995 0.657 D 0.91 0.629 D 0.000 0.504 D 0.560 0.490 P 2.4 0.697 M 2.38 0.158 T -2.38 0.524 N 0.049 0.064 -0.987 0.334 T 0.000 0.000 T . . . 4.223 0.566 23.9 0.998 0.895 0.971 0.728 D c 0.640 0.649 0.028 0.138 0.615 0.372 0 5.98 0.971 4.497 0.598 1.140 0.893 1.000 0.715 0.998 0.697 16.143 0.813 . . . 0.5826 0.1690 0.3809 0.6345 0.6968 0.6874 0.6357 0.5872 0.6296 0.5153 0.1931 0.4017 0.6589 0.7326 0.6820 0.6389 0.6002 het 789.69 68 12 80765800 . A G 789.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.945;DP=68;Dels=0.00;FS=2.217;HRun=0;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;MQRankSum=-0.749;QD=11.61;ReadPosRankSum=0.724;VQSLOD=6.4778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,35:68:99:820,0,904 12 80771813 80771813 G A exonic OTOGL synonymous SNV OTOGL:NM_173591:exon58:c.G7020A:p.T2340T 0.68 0.4 0.7 0.76 0.83 0.81 0.7874 0.5046 0.6420 0.7737 0.8037 0.8446 0.7841 0.8273 0.72 0.5 0.84 0.63 . rs2717477 COSM5425458;COSM5425457 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000223106.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7691 0.4534 0.6181 0.8375 0.7646 0.7944 0.8372 0.7750 0.8270 0.7204 0.4793 0.6483 0.8278 0.7816 0.7944 0.8350 0.7786 het 142.40 11 12 80771813 . G A 142.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DP=11;Dels=0.00;FS=3.090;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-1.398;QD=12.95;ReadPosRankSum=-1.769;VQSLOD=5.4986;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,7:11:99:172,0,121 12 81627238 81627238 C T exonic ACSS3 synonymous SNV ACSS3:NM_001330242:exon13:c.C1704T:p.G568G,ACSS3:NM_024560:exon13:c.C1707T:p.G569G,ACSS3:NM_001330243:exon14:c.C753T:p.G251G 0.18 0.1 0.18 0.23 0.22 0.17 0.1899 0.1088 0.1444 0.2180 0.1661 0.2151 0.1641 0.1672 0.18 0.12 0.21 0.15 0.16 rs1921038 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1882 0.1048 0.1550 0.1756 0.2196 0.1725 0.2153 0.1913 0.1650 0.1778 0.1100 0.1695 0.1533 0.2298 0.1761 0.2124 0.1906 het 804.27 85 12 81627238 . C T 804.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.374;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4480;MQ=58.12;MQ0=0;MQRankSum=1.530;QD=9.46;ReadPosRankSum=0.791;VQSLOD=5.1102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,32:85:99:834,0,1230 12 82752543 82752543 T G exonic METTL25 nonsynonymous SNV METTL25:NM_032230:exon1:c.T199G:p.S67A 0.042 0.018 0.059 0.002 0.081 0.065 0.0668 0.0285 0.0291 0.0003 0.0364 0.0895 0.0752 0.0725 0.073 0.032 0.094 0.022 0.074 rs112592060 . . . . . . . . . . . . . 0.734 0.044 T 0.0 0.026 B 0.0 0.013 B 0.504 0.051 N 1.000 0.198 N -0.755 0.017 N 1.56 0.296 T -0.46 0.172 N 0.017 0.003 -1.031 0.200 T 0.001 0.004 T . . . -1.496 0.017 0.003 0.745 0.104 0.000 0.000 N c -1.381 -1.340 1.000 0.747 0.468 0.091 2 0.59 0.166 0.722 0.254 0.121 0.210 0.027 0.200 0.040 0.157 6.107 0.192 . . . 0.0644 0.0246 0.0337 0.0647 0.0005 0.0352 0.0918 0.0686 0.0755 0.0547 0.0297 0.0347 0.0464 0 0.0330 0.0810 0.0626 het 1434.77 91 12 82752543 . T G 1434.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.431;DP=91;Dels=0.00;FS=5.269;HRun=1;HaplotypeScore=0.7340;MQ=58.93;MQ0=0;MQRankSum=-0.983;QD=15.77;ReadPosRankSum=0.311;VQSLOD=4.9217;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,48:91:99:1465,0,1089 12 82752559 82752559 T G exonic METTL25 nonsynonymous SNV METTL25:NM_032230:exon1:c.T215G:p.L72R 0.042 0.018 0.059 0.002 0.081 0.065 0.0669 0.0285 0.0292 0.0003 0.0366 0.0896 0.0753 0.0726 0.073 0.032 0.094 0.033 0.082 rs113882703 COSM4147495 1(soft_tissue);1(thyroid) . . . . . . . . . . . 0.574 0.088 T 0.0 0.026 B 0.0 0.013 B 0.125 0.028 N 0.987 0.246 N -1.79 0.003 N 1.49 0.315 T -0.45 0.170 N 0.081 0.074 -1.053 0.136 T 0.001 0.003 T . . . -0.802 0.040 0.042 0.666 0.079 0.000 0.000 N c -1.720 -1.699 1.0 0.983 0.468 0.091 2 -5.17 0.026 -0.510 0.064 -0.376 0.066 0.000 0.063 0.000 0.016 1.300 0.019 . . . 0.0643 0.0245 0.0337 0.0647 0.0005 0.0352 0.0917 0.0685 0.0755 0.0545 0.0297 0.0346 0.0464 0 0.0330 0.0809 0.0598 het 1085.75 74 12 82752559 . T G 1085.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.353;DP=74;Dels=0.00;FS=8.344;HRun=1;HaplotypeScore=3.1064;MQ=59.00;MQ0=0;MQRankSum=-0.050;QD=14.67;ReadPosRankSum=1.275;VQSLOD=4.3930;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,38:74:99:1116,0,994 12 82783668 82783668 C T exonic METTL25 synonymous SNV METTL25:NM_001319675:exon3:c.C237T:p.I79I,METTL25:NM_032230:exon3:c.C498T:p.I166I,METTL25:NM_001347934:exon4:c.C342T:p.I114I 0.93 0.78 0.96 1. 0.96 1. 0.9559 0.8078 0.9695 1 0.9737 0.9605 0.9615 0.9903 0.91 0.82 0.96 0.8 0.95 rs10778908 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9580 0.8021 0.9659 0.9141 1 0.9717 0.9629 0.9561 0.9896 0.9250 0.8149 0.9640 0.9139 1 0.9720 0.9655 0.9643 hom 3152.21 112 12 82783668 . C T 3152.21 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.03;MQ0=0;QD=28.14;VQSLOD=8.1653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3185,244,0 12 82792666 82792666 C T exonic METTL25 synonymous SNV METTL25:NM_001319675:exon4:c.C363T:p.T121T,METTL25:NM_032230:exon4:c.C624T:p.T208T,METTL25:NM_001347934:exon5:c.C468T:p.T156T 0.042 0.019 0.059 0.002 0.081 0.064 0.0667 0.0291 0.0287 0.0004 0.0361 0.0891 0.0767 0.0726 0.074 0.033 0.095 0.043 0.074 rs10506872 COSM4147496 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0645 0.0257 0.0337 0.0653 0.0005 0.0353 0.0917 0.0687 0.0744 0.0552 0.0305 0.0346 0.0464 0 0.0328 0.0815 0.0622 het 701.43 42 12 82792666 . C T 701.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.019;DP=42;Dels=0.00;FS=1.289;HRun=0;HaplotypeScore=2.1877;MQ=59.45;MQ0=0;MQRankSum=-0.367;QD=16.70;ReadPosRankSum=0.367;VQSLOD=6.0769;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,27:42:99:731,0,470 12 82792787 82792787 C A exonic METTL25 nonsynonymous SNV METTL25:NM_001319675:exon4:c.C484A:p.Q162K,METTL25:NM_032230:exon4:c.C745A:p.Q249K,METTL25:NM_001347934:exon5:c.C589A:p.Q197K 0.93 0.78 0.96 1. 0.96 1. 0.9559 0.8073 0.9695 0.9999 0.9736 0.9605 0.9621 0.9903 0.91 0.82 0.96 0.81 0.76 rs4296098 . . . . . . . . . . . . . 0.659 0.047 T 0.009 0.139 B 0.007 0.121 B 0.934 0.084 N 1 0.090 P 2.3 0.659 M 1.57 0.293 T -0.49 0.156 N 0.055 0.037 -0.903 0.477 T 0.000 0.000 T . . . 0.353 0.128 6.190 0.606 0.063 0.142 0.181 N c -0.857 -0.844 0.001 0.085 0.638 0.428 0 3.5 0.390 1.186 0.315 0.888 0.391 0.005 0.169 0.188 0.214 10.675 0.448 Methyltransferase domain ENSG00000257431.1|ENSG00000257431.1|ENSG00000257431.1|ENSG00000257431.1|ENSG00000257431.1|ENSG00000257431.1|ENSG00000257431.1|ENSG00000257431.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.9579 0.8030 0.9660 0.9143 0.9999 0.9715 0.9630 0.9556 0.9897 0.9252 0.8154 0.9642 0.9139 1 0.9718 0.9658 0.9641 hom 930.66 31 12 82792787 . C A 930.66 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.02;VQSLOD=14.2739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:75.24:964,75,0 12 82792942 82792942 A G exonic METTL25 synonymous SNV METTL25:NM_001319675:exon4:c.A639G:p.P213P,METTL25:NM_032230:exon4:c.A900G:p.P300P,METTL25:NM_001347934:exon5:c.A744G:p.P248P 0.042 0.019 0.059 0.002 0.081 0.064 0.0665 0.0290 0.0289 0.0003 0.0362 0.0889 0.0762 0.0723 0.074 0.033 0.095 0.043 0.082 rs10506873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0648 0.0258 0.0339 0.0661 0.0005 0.0351 0.0920 0.0696 0.0756 0.0550 0.0307 0.0346 0.0464 0 0.0327 0.0812 0.0612 het 637.12 80 12 82792942 . A G 637.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.600;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9920;MQ=58.51;MQ0=0;MQRankSum=1.333;QD=7.96;ReadPosRankSum=1.017;VQSLOD=5.5817;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,27:80:99:667,0,1378 12 85277561 85277561 T A exonic SLC6A15 nonsynonymous SNV SLC6A15:NM_018057:exon5:c.A833T:p.D278V 0.075 0.0053 0.16 . 0.23 0.029 0.1405 0.0335 0.1303 0 0.1109 0.2004 0.1637 0.0563 0.15 0.043 0.21 0.076 0.16 rs17183577 COSM3753513 1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . -0.33 0.683 T -2.15 0.486 N 0.054 0.036 -1.065 0.105 T 0.000 0.000 T . . . 0.136 0.107 3.996 0.381 0.025 0.121 0.169 N c -1.287 -1.339 0.001 0.076 0.615 0.372 0 -0.422 0.117 0.471 0.217 -0.210 0.100 0.000 0.063 0.003 0.074 1.264 0.019 . . . 0.1430 0.0293 0.1334 0.2960 0.0001 0.1178 0.1985 0.1795 0.0557 0.1233 0.0376 0.1480 0.2748 0.0006 0.1098 0.1851 0.1245 het 1249.21 123 12 85277561 . T A 1249.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.616;DP=123;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.7887;MQ=59.20;MQ0=0;MQRankSum=0.854;QD=10.16;ReadPosRankSum=0.778;VQSLOD=6.2038;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,58:123:99:1279,0,1536 12 85277608 85277608 C T exonic SLC6A15 synonymous SNV SLC6A15:NM_018057:exon5:c.G786A:p.L262L 0.11 0.0076 0.22 0.002 0.3 0.082 0.2069 0.0472 0.1821 0.0020 0.1732 0.2874 0.2267 0.1181 0.22 0.062 0.3 0.12 0.28 rs17183612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2106 0.0414 0.1874 0.3815 0.0021 0.1816 0.2879 0.2570 0.1172 0.1829 0.0524 0.2010 0.3742 0.0031 0.1780 0.2739 0.1945 het 889.37 83 12 85277608 . C T 889.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.220;DP=83;Dels=0.00;FS=0.900;HRun=0;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;MQRankSum=0.745;QD=10.72;ReadPosRankSum=-0.178;VQSLOD=6.1818;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,38:83:99:919,0,1251 12 85449465 85449465 T A exonic LRRIQ1 synonymous SNV LRRIQ1:NM_001079910:exon8:c.T894A:p.V298V 0.6 0.93 0.55 0.45 0.52 0.39 0.5094 0.8713 0.4984 0.4399 0.3570 0.5058 0.5067 0.4141 0.63 0.85 0.51 0.63 0.44 rs7974418 COSM3998974;COSM3998975 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5005 0.8757 0.5100 0.5831 0.4388 0.3556 0.5020 0.5076 0.4126 0.5735 0.8601 0.5289 0.5993 0.4395 0.3390 0.4853 0.4371 het 489.04 55 12 85449465 . T A 489.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.173;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6644;MQ=56.23;MQ0=0;MQRankSum=1.194;QD=8.89;ReadPosRankSum=0.816;VQSLOD=2.9759;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,22:55:99:519,0,854 12 88440676 88440676 G C exonic C12orf29 nonsynonymous SNV C12orf29:NM_001009894:exon6:c.G712C:p.V238L 0.51 0.15 0.56 0.74 0.61 0.62 0.5827 0.2241 0.6059 0.7551 0.5896 0.6068 0.5881 0.6020 0.47 0.24 0.59 0.39 0.63 rs9262 COSM3753520 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.561 0.063 T 0.0 0.026 B 0.001 0.040 B 0.140 0.183 N 1 0.090 P -1.445 0.006 N 1.64 0.278 T 0.97 0.015 N 0.033 0.013 -1.000 0.300 T 0.000 0.000 T . . . 0.575 0.149 7.980 0.729 0.098 0.036 0.088 N c -1.349 -1.259 0.077 0.158 0.707 0.730 0 -4.2 0.035 -1.164 0.032 -0.257 0.089 0.000 0.063 0.975 0.474 9.202 0.362 . . . 0.5891 0.2188 0.6009 0.6502 0.7572 0.5923 0.6006 0.5980 0.6017 0.5044 0.2397 0.5778 0.6490 0.7834 0.5932 0.5957 0.5900 het 1309.77 134 12 88440676 . G C 1309.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.685;DP=134;Dels=0.00;FS=0.673;HRun=1;HaplotypeScore=4.6355;MQ=56.59;MQ0=0;MQRankSum=1.523;QD=9.77;ReadPosRankSum=0.660;VQSLOD=3.0128;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,50:134:99:1340,0,2103 12 88505078 88505078 T C exonic CEP290 synonymous SNV CEP290:NM_025114:exon22:c.A2268G:p.S756S 0.76 0.32 0.88 0.97 0.92 0.91 0.8888 0.4686 0.9288 0.9758 0.9635 0.9289 0.9057 0.8881 0.77 0.43 0.92 0.64 . rs2468255 . . Benign|Benign|Benign|Benign\x2cLikely benign not_specified|Joubert_syndrome|Meckel-Gruber_syndrome|Nephronophthisis\x2cnot_specified RCV000124245.1|RCV000231629.2|RCV000231629.2|RCV000231629.2\x2cRCV000114186.2 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT\x2cMedGen CN169374|C0431399:ORPHA475:253175003:716997004|C0265215:ORPHA564:29076005|C0687120:204958008\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8937 0.3850 0.9213 0.9056 0.9749 0.9612 0.9269 0.9008 0.8873 0.7923 0.4264 0.9199 0.8907 0.9746 0.9595 0.9282 0.9194 hom 413.70 16 12 88505078 . T C 413.70 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.86;VQSLOD=13.3944;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:33.11:447,33,0 12 88547277 88547277 T C exonic TMTC3 synonymous SNV TMTC3:NM_181783:exon3:c.T399C:p.H133H 1. 1. 1. 1. 1. 1. 1.0000 0.9995 1 1 1 1 1 1 1. 1. 1. 1. 0.95 rs2468230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9996 1.0000 1 1 1 1 1 1 0.9999 0.9997 1 1 1 1 0.9999 1 hom 2446.15 82 12 88547277 . T C 2446.15 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=29.83;VQSLOD=8.8780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2479,187,0 12 89743223 89743223 G A exonic DUSP6 synonymous SNV DUSP6:NM_022652:exon2:c.C516T:p.D172D,DUSP6:NM_001946:exon3:c.C954T:p.D318D 0.98 0.95 0.99 1. 1. 1. 0.9965 0.9618 0.9980 1 1 0.9999 0.9989 0.9999 0.99 0.96 1. 0.97 0.98 rs704075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9600 0.9983 1 1 1 0.9999 0.9985 1.0000 0.9884 0.9594 0.9976 1 1 1 0.9999 0.9969 hom 6969.61 213 12 89743223 . G A 6969.61 Mask AC=2;AF=1.00;AN=2;DP=213;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7714;MQ=59.58;MQ0=0;QD=32.72;VQSLOD=8.7462;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:213:99:6945,563,0 12 89745477 89745477 C A exonic DUSP6 nonsynonymous SNV DUSP6:NM_001946:exon1:c.G340T:p.V114L,DUSP6:NM_022652:exon1:c.G340T:p.V114L 0.47 0.28 0.48 0.6 0.56 0.49 0.5378 0.3259 0.5235 0.6104 0.6447 0.5558 0.5586 0.5018 0.43 0.28 0.51 0.37 0.32 rs2279574 COSM3753523 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.014 0.531 D 0.086 0.423 B 0.075 0.436 B 0.000 0.843 D 0.000 0.588 P 1.525 0.387 L 2.06 0.374 T -1.78 0.420 N 0.345 0.506 -0.909 0.470 T 0.000 0.000 T . . . 3.920 0.528 23.5 0.995 0.700 0.977 0.761 D c 0.276 0.363 1.000 0.747 0.598 0.340 0 5.09 0.685 6.051 0.705 0.852 0.362 1.000 0.715 0.966 0.452 17.664 0.880 Rhodanese-like domain . . 0.5233 0.2780 0.5157 0.4895 0.6094 0.6262 0.5365 0.5403 0.4821 0.4826 0.2928 0.4988 0.5433 0.6555 0.6344 0.5332 0.5348 hom 743.85 24 12 89745477 . C A 743.85 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=30.99;VQSLOD=9.2625;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:63.19:777,63,0 12 89916811 89916811 C T exonic GALNT4;POC1B-GALNT4 nonsynonymous SNV GALNT4:NM_003774:exon1:c.G1516A:p.V506I,POC1B-GALNT4:NM_001199781:exon3:c.G1507A:p.V503I,POC1B-GALNT4:NM_001199782:exon3:c.G1000A:p.V334I 0.21 0.15 0.24 0.14 0.35 0.17 0.2766 0.1777 0.1975 0.1450 0.3408 0.3404 0.2673 0.1769 0.29 0.18 0.34 0.2 . rs2230283 COSM3753525;COSM1128449 3(prostate);1(large_intestine) . . . . . . . . . . . 0.007 0.599 D 0.855 0.464 P 0.753 0.561 P . . . 1e-37 0.810 P 2.24 0.636 M 1.41 0.334 T -0.7 0.199 N 0.179 0.221 -1.066 0.103 T 0.000 0.000 T . . . 4.105 0.551 23.7 0.997 0.817 0.988 0.868 D c 0.595 0.589 1.000 0.747 0.660 0.490 0 5.93 0.959 7.510 0.804 0.892 0.403 1.000 0.715 0.989 0.536 19.338 0.943 Ricin B\x2c lectin domain ENSG00000258302.1 Brain_Cerebellum 0.2777 0.1746 0.2158 0.3081 0.1363 0.3428 0.3437 0.2901 0.1779 0.2822 0.1851 0.2308 0.3 0.1377 0.3407 0.3407 0.3208 het 304.72 38 12 89916811 . C T 304.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.616;DP=38;Dels=0.00;FS=3.633;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=0.469;QD=8.02;ReadPosRankSum=0.136;VQSLOD=5.8460;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,14:38:99:335,0,781 12 89916968 89916968 G A exonic GALNT4;POC1B-GALNT4 synonymous SNV GALNT4:NM_003774:exon1:c.C1359T:p.I453I,POC1B-GALNT4:NM_001199781:exon3:c.C1350T:p.I450I,POC1B-GALNT4:NM_001199782:exon3:c.C843T:p.I281I 0.002 . 0.0058 . 0.006 . 0.0023 0.0005 0.0022 0 0.0005 0.0036 0.0022 0 0.0029 0.0005 0.004 . . rs187767855 COSM6025350;COSM6025351 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0026 0.0007 0.0035 0.0004 0 0.0006 0.0043 0.0027 0 0.0024 0.0006 0.0024 0 0 0.0011 0.0040 0.0031 het 964.91 116 12 89916968 . G A 964.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.949;DP=116;Dels=0.00;FS=1.524;HRun=1;HaplotypeScore=3.9573;MQ=58.91;MQ0=0;MQRankSum=-0.480;QD=8.32;ReadPosRankSum=2.138;VQSLOD=3.1371;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,43:116:99:995,0,1903 12 89917037 89917037 G A exonic GALNT4;POC1B-GALNT4 synonymous SNV GALNT4:NM_003774:exon1:c.C1290T:p.N430N,POC1B-GALNT4:NM_001199781:exon3:c.C1281T:p.N427N,POC1B-GALNT4:NM_001199782:exon3:c.C774T:p.N258N 0.071 0.041 0.082 0.023 0.13 0.097 0.1027 0.0446 0.0612 0.0158 0.1267 0.1245 0.0944 0.1146 0.092 0.046 0.11 0.022 . rs2230282 COSM4147508;COSM4147507 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1012 0.0437 0.0563 0.1437 0.0155 0.1276 0.1216 0.1152 0.1176 0.0945 0.0399 0.0525 0.1424 0.0117 0.1242 0.1281 0.1191 het 1255.26 100 12 89917037 . G A 1255.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.605;DP=100;Dels=0.00;FS=1.635;HRun=0;HaplotypeScore=0.9867;MQ=58.74;MQ0=0;MQRankSum=0.824;QD=12.55;ReadPosRankSum=2.018;VQSLOD=5.8417;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,48:100:99:1285,0,1325 12 89917518 89917518 A G exonic GALNT4;POC1B-GALNT4 nonsynonymous SNV GALNT4:NM_003774:exon1:c.T809C:p.I270T,POC1B-GALNT4:NM_001199781:exon3:c.T800C:p.I267T 0.73 0.74 0.65 0.74 0.72 0.79 0.7133 0.7449 0.5858 0.7599 0.6924 0.7155 0.715 0.7908 0.73 0.76 0.72 0.7 . rs2230281 . . . . . . . . . . . . . 0.831 0.037 T 0.0 0.026 B 0.0 0.013 B . . . 0.000 0.588 P -0.9 0.013 N 0.14 0.609 T 1.71 0.006 N 0.029 0.078 -0.985 0.338 T 0.000 0.000 T . . . 0.936 0.183 10.29 0.862 0.159 0.191 0.203 N c -0.547 -0.254 1.000 0.747 0.543 0.218 0 4.59 0.561 5.709 0.678 0.138 0.222 1.000 0.715 0.961 0.442 11.511 0.496 Glycosyltransferase 2-like|Nucleotide-diphospho-sugar transferases ENSG00000139323.9 Nerve_Tibial 0.7099 0.7441 0.5916 0.7940 0.7536 0.6902 0.7134 0.7039 0.7827 0.7204 0.7425 0.6169 0.7914 0.7531 0.6854 0.7165 0.7203 hom 1543.14 46 12 89917518 . A G 1543.14 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.99;MQ0=0;QD=33.55;VQSLOD=9.9891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1576,123,0 12 90028901 90028901 T C exonic ATP2B1 synonymous SNV ATP2B1:NM_001001323:exon3:c.A534G:p.E178E,ATP2B1:NM_001682:exon3:c.A534G:p.E178E 0.12 0.15 0.15 0.032 0.19 0.081 0.1607 0.1569 0.0778 0.0245 0.1822 0.2005 0.1222 0.1250 0.18 0.16 0.19 0.098 0.24 rs1050395 COSM5619015;COSM5619016 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1577 0.1547 0.0891 0.1639 0.0248 0.1871 0.2009 0.1632 0.1275 0.1736 0.1517 0.1100 0.1325 0.0241 0.1928 0.2018 0.1834 het 1498.39 129 12 90028901 . T C 1498.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.845;DP=129;Dels=0.00;FS=0.659;HRun=0;HaplotypeScore=3.4518;MQ=59.21;MQ0=0;MQRankSum=2.151;QD=11.62;ReadPosRankSum=0.087;VQSLOD=5.9384;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,60:129:99:1528,0,1858 12 91449990 91449990 C T exonic KERA synonymous SNV KERA:NM_007035:exon2:c.G69A:p.V23V 0.62 0.24 0.7 0.8 0.8 0.7 0.7249 0.3198 0.6401 0.7859 0.8269 0.7808 0.75 0.7379 0.63 0.35 0.78 0.55 0.73 rs2735333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7324 0.3158 0.6569 0.7466 0.7849 0.8283 0.7825 0.7380 0.7376 0.6576 0.3388 0.6719 0.7417 0.7992 0.8303 0.7780 0.7710 hom 755.23 25 12 91449990 . C T 755.23 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.21;MQ0=0;QD=30.21;VQSLOD=8.4998;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:63.19:788,63,0 12 93139348 93139348 A G exonic PLEKHG7 nonsynonymous SNV PLEKHG7:NM_001004330:exon5:c.A296G:p.D99G 0.018 0.0023 0.027 . 0.045 0.022 0.0327 0.0096 0.0201 0.0001 0.0209 0.0471 0.0352 0.0196 0.043 0.012 0.059 0.043 0.025 rs17790310 . . . . . . . . . . . . . 0.016 0.518 D 1.0 0.899 D 0.993 0.797 D 0.000 0.504 D 1.000 0.588 D 2.765 0.810 M -0.08 0.639 T -5.1 0.830 D 0.174 0.334 -0.752 0.579 T 0.078 0.310 T . . . 6.622 0.909 32 0.999 0.947 0.985 0.835 D c 0.686 0.656 1.000 0.747 0.638 0.428 0 5.21 0.719 8.339 0.899 1.006 0.624 1.000 0.715 0.996 0.625 15.038 0.713 Dbl homology (DH) domain . . 0.0337 0.0078 0.0228 0.0384 5.803e-05 0.0231 0.0513 0.0386 0.0189 0.0329 0.0100 0.0358 0.0331 0 0.0275 0.0510 0.0326 het 1963.11 137 12 93139348 . A G 1963.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.938;DP=137;Dels=0.00;FS=0.716;HRun=1;HaplotypeScore=4.9658;MQ=59.66;MQ0=0;MQRankSum=-0.331;QD=14.33;ReadPosRankSum=0.841;VQSLOD=5.0649;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,75:137:99:1993,0,1533 12 93147907 93147907 A T exonic PLEKHG7 synonymous SNV PLEKHG7:NM_001004330:exon6:c.A357T:p.P119P 0.65 0.58 0.7 0.89 0.49 0.64 0.5704 0.5627 0.7792 0.9051 0.4538 0.4874 0.5705 0.6361 0.51 0.56 0.49 0.69 0.5 rs9669519 COSM3753531 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5800 0.5599 0.7667 0.5710 0.9030 0.4537 0.4873 0.5581 0.6385 0.5226 0.5632 0.7124 0.5497 0.8998 0.4553 0.4654 0.4806 het 2248.58 139 12 93147907 . A T 2248.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.381;DP=139;Dels=0.00;FS=0.642;HRun=0;HaplotypeScore=3.8885;MQ=58.47;MQ0=0;MQRankSum=-0.084;QD=16.18;ReadPosRankSum=-0.006;VQSLOD=5.1404;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,82:139:99:2279,0,1502 12 93150102 93150102 T C exonic PLEKHG7 nonsynonymous SNV PLEKHG7:NM_001004330:exon8:c.T635C:p.M212T 0.65 0.56 0.7 0.89 0.49 0.64 0.5706 0.5463 0.7802 0.9044 0.4537 0.4884 0.5716 0.6434 0.51 0.54 0.49 0.67 0.39 rs924326 COSM3753532 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.023 0.266 N 1 0.090 P -1.15 0.009 N 1.56 0.296 T 0.55 0.027 N 0.041 0.021 -0.946 0.417 T 0.000 0.000 T . . . -1.867 0.010 0.002 0.258 0.012 0.031 0.080 N c -1.395 -1.275 0.005 0.109 0.638 0.428 0 1.11 0.195 -0.783 0.047 -1.047 0.020 0.000 0.063 0.117 0.195 1.025 0.014 PH domain-like . . 0.5801 0.5444 0.7668 0.5800 0.9026 0.4535 0.4875 0.5577 0.6450 0.5188 0.5502 0.7117 0.5530 0.8988 0.4559 0.4652 0.4806 het 1150.71 98 12 93150102 . T C 1150.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.153;DP=98;Dels=0.00;FS=2.611;HRun=0;HaplotypeScore=3.4917;MQ=58.69;MQ0=0;MQRankSum=-0.725;QD=11.74;ReadPosRankSum=-1.400;VQSLOD=5.3622;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,49:98:99:1181,0,1257 12 93155535 93155535 G A exonic PLEKHG7 synonymous SNV PLEKHG7:NM_001004330:exon9:c.G708A:p.T236T 0.85 0.82 0.87 0.95 0.85 0.79 0.8394 0.8033 0.9025 0.9463 0.8674 0.8312 0.8275 0.7835 0.82 0.8 0.83 0.85 0.56 rs1504907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8522 0.8057 0.9153 0.7488 0.9511 0.8804 0.8479 0.8354 0.7878 0.8437 0.8093 0.8813 0.7616 0.9411 0.8765 0.8453 0.8436 het 300.79 29 12 93155535 . G A 300.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.393;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.652;QD=10.37;ReadPosRankSum=0.697;VQSLOD=11.2728;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,11:29:99:331,0,456 12 93196422 93196422 T G exonic EEA1 nonsynonymous SNV EEA1:NM_003566:exon19:c.A2428C:p.K810Q 0.71 0.49 0.78 0.94 0.63 0.79 0.6842 0.5248 0.8468 0.9392 0.5753 0.6298 0.6826 0.7931 0.59 0.53 0.63 0.64 0.39 rs10745623 COSM3753533 1(large_intestine) . . . . . . . . . . . 0.625 0.052 T 0.012 0.151 B 0.006 0.112 B 0.460 0.049 N 1 0.090 P 0.345 0.112 N -1.08 0.771 T -0.1 0.085 N 0.076 0.067 -1.012 0.261 T 0.000 0.000 T . . . -2.891 0.001 0.001 0.232 0.010 0.069 0.128 N c -1.806 -1.852 0.911 0.263 0.732 0.924 0 -7.99 0.010 -0.133 0.103 -1.529 0.010 0.000 0.063 0.001 0.043 9.037 0.353 . ENSG00000102189.12 Cells_Transformed_fibroblasts 0.6879 0.5125 0.8367 0.6752 0.9368 0.5738 0.6273 0.6709 0.7942 0.5929 0.5196 0.7931 0.6424 0.9338 0.5732 0.5905 0.6006 hom 1370.39 42 12 93196422 . T G 1370.39 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5226;MQ=59.45;MQ0=0;QD=32.63;VQSLOD=9.7195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1403,108,0 12 94243853 94243853 C T exonic CRADD synonymous SNV CRADD:NM_001320099:exon3:c.C406T:p.L136L,CRADD:NM_003805:exon3:c.C406T:p.L136L 0.23 0.11 0.17 0.49 0.16 0.24 0.1867 0.1197 0.1793 0.4464 0.1425 0.1607 0.1700 0.2217 0.15 0.12 0.16 0.17 0.098 rs56944668 COSM298256 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1866 0.1132 0.1813 0.1869 0.4415 0.1397 0.1606 0.1673 0.2177 0.1620 0.1211 0.1933 0.1589 0.4621 0.1481 0.1556 0.1547 het 1163.39 100 12 94243853 . C T 1163.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.656;DP=100;Dels=0.00;FS=0.824;HRun=1;HaplotypeScore=5.3358;MQ=59.63;MQ0=0;MQRankSum=-0.635;QD=11.63;ReadPosRankSum=0.316;VQSLOD=4.8443;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:56,44:100:99:1193,0,1639 12 94543506 94543506 C T exonic PLXNC1 synonymous SNV PLXNC1:NM_005761:exon1:c.C759T:p.Y253Y 0.45 0.52 0.47 0.48 0.34 0.43 0.3892 0.4776 0.4625 0.4146 0.3313 0.3549 0.3835 0.4286 0.39 0.43 0.36 0.37 0.22 rs2230754 COSM1562414 1(urinary_tract);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3930 0.4820 0.4728 0.3872 0.4255 0.3378 0.3546 0.3769 0.4205 0.4004 0.4844 0.4556 0.3510 0.4266 0.3317 0.3627 0.3988 het 97.05 33 12 94543506 . C T 97.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.180;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=0.154;QD=2.94;ReadPosRankSum=-0.066;VQSLOD=5.1578;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,7:33:99:127,0,794 12 94645255 94645255 A G exonic PLXNC1 synonymous SNV PLXNC1:NM_005761:exon15:c.A2832G:p.T944T 0.61 0.54 0.7 0.74 0.57 0.54 0.5977 0.5731 0.7809 0.7636 0.5997 0.5580 0.5881 0.5580 0.56 0.58 0.55 0.5 0.48 rs2230757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6037 0.5758 0.7642 0.5208 0.7568 0.6013 0.5562 0.5953 0.5588 0.5804 0.5688 0.7160 0.5265 0.7667 0.5990 0.5546 0.6031 het 1543.62 123 12 94645255 . A G 1543.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.327;DP=123;Dels=0.00;FS=1.459;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;MQRankSum=-1.845;QD=12.55;ReadPosRankSum=1.471;VQSLOD=4.6903;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,64:123:99:1574,0,1462 12 94673277 94673277 G A exonic PLXNC1 synonymous SNV PLXNC1:NM_005761:exon22:c.G3627A:p.P1209P 0.11 0.062 0.14 0.17 0.13 0.049 0.1223 0.0639 0.2244 0.1603 0.1225 0.1221 0.1454 0.0667 0.1 0.061 0.12 0.076 0.082 rs2230760 COSM147575 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1279 0.0648 0.2168 0.1406 0.1609 0.1178 0.1213 0.1440 0.0683 0.1025 0.0631 0.1914 0.1325 0.1531 0.1216 0.1098 0.1053 het 1232.33 88 12 94673277 . G A 1232.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.521;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8300;MQ=58.38;MQ0=0;MQRankSum=2.318;QD=14.00;ReadPosRankSum=0.530;VQSLOD=4.9351;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,46:88:99:1262,0,986 12 94761701 94761701 T C exonic CEP83 synonymous SNV CEP83:NM_001042399:exon10:c.A1212G:p.R404R,CEP83:NM_001346457:exon10:c.A1212G:p.R404R,CEP83:NM_001346459:exon10:c.A900G:p.R300R,CEP83:NM_001346458:exon11:c.A900G:p.R300R,CEP83:NM_016122:exon11:c.A1212G:p.R404R 0.079 0.049 0.13 0.059 0.12 0.062 0.1092 0.0499 0.2061 0.0610 0.1211 0.1152 0.1314 0.0718 0.093 0.049 0.11 0.098 0.074 rs12426243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1150 0.0518 0.2010 0.1364 0.0598 0.1171 0.1153 0.1304 0.0712 0.0914 0.0518 0.1659 0.1358 0.0577 0.1189 0.1058 0.1029 het 1193.31 93 12 94761701 . T C 1193.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.206;DP=93;Dels=0.00;FS=20.606;HRun=1;HaplotypeScore=0.5784;MQ=59.73;MQ0=0;MQRankSum=0.150;QD=12.83;ReadPosRankSum=1.034;VQSLOD=2.7138;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,46:93:99:1223,0,1252 12 94769758 94769758 A G exonic CEP83 synonymous SNV CEP83:NM_001042399:exon7:c.T837C:p.R279R,CEP83:NM_001346457:exon7:c.T837C:p.R279R,CEP83:NM_001346459:exon7:c.T525C:p.R175R,CEP83:NM_001346461:exon7:c.T837C:p.R279R,CEP83:NM_001346462:exon7:c.T525C:p.R175R,CEP83:NM_001346458:exon8:c.T525C:p.R175R,CEP83:NM_001346460:exon8:c.T837C:p.R279R,CEP83:NM_016122:exon8:c.T837C:p.R279R 0.83 0.99 0.78 0.96 0.67 0.71 0.7261 0.9418 0.8478 0.9763 0.7260 0.6451 0.7106 0.6979 0.73 0.93 0.65 0.85 0.39 rs4761611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7165 0.9462 0.8278 0.5859 0.9720 0.7205 0.6384 0.6991 0.6796 0.7602 0.9380 0.7943 0.5662 0.9765 0.7195 0.6469 0.7270 hom 1159.06 43 12 94769758 . A G 1159.06 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.02;MQ0=0;QD=26.95;VQSLOD=8.2888;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:87.28:1192,87,0 12 94972290 94972290 C T exonic TMCC3 synonymous SNV TMCC3:NM_001301036:exon3:c.G918A:p.E306E,TMCC3:NM_020698:exon3:c.G1011A:p.E337E 0.52 0.52 0.56 0.47 0.54 0.52 0.5446 0.5230 0.6489 0.4541 0.5665 0.5468 0.5329 0.5154 0.53 0.52 0.54 0.49 0.39 rs2270893 COSM432006 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5402 0.5160 0.6312 0.5278 0.4331 0.5684 0.5362 0.5318 0.5129 0.5216 0.5047 0.5945 0.5099 0.4176 0.5570 0.5315 0.5061 het 626.95 48 12 94972290 . C T 626.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.859;DP=48;Dels=0.00;FS=7.475;HRun=1;HaplotypeScore=0.8667;MQ=59.52;MQ0=0;MQRankSum=0.259;QD=13.06;ReadPosRankSum=-1.728;VQSLOD=4.7180;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,22:48:99:657,0,772 12 94975799 94975799 G A exonic TMCC3 synonymous SNV TMCC3:NM_001301036:exon2:c.C501T:p.F167F,TMCC3:NM_020698:exon2:c.C594T:p.F198F 0.69 0.9 0.6 0.6 0.57 0.67 0.6114 0.8537 0.6706 0.5872 0.6027 0.5593 0.5903 0.6451 0.65 0.84 0.56 0.65 0.52 rs3747553 COSM3753541 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6081 0.8569 0.6617 0.5528 0.5826 0.6124 0.5556 0.5813 0.6497 0.6439 0.8468 0.6420 0.5367 0.5855 0.6002 0.5500 0.5584 het 2103.86 200 12 94975799 . G A 2103.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.248;DP=200;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5945;MQ=59.51;MQ0=0;MQRankSum=1.301;QD=10.52;ReadPosRankSum=-0.368;VQSLOD=6.1400;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:112,88:200:99:2134,0,2874 12 94976084 94976084 T C exonic TMCC3 synonymous SNV TMCC3:NM_001301036:exon2:c.A216G:p.A72A,TMCC3:NM_020698:exon2:c.A309G:p.A103A 0.7 0.93 0.61 0.6 0.58 0.68 0.6166 0.8755 0.6755 0.5894 0.6033 0.5625 0.5982 0.6512 0.67 0.86 0.56 0.67 0.52 rs3747552 COSM3753542 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6129 0.8790 0.6683 0.5574 0.5846 0.6127 0.5585 0.5884 0.6555 0.6516 0.8666 0.6492 0.5367 0.5862 0.6001 0.5538 0.5612 het 2575.77 185 12 94976084 . T C 2575.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.036;DP=185;Dels=0.00;FS=8.782;HRun=1;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;MQRankSum=1.107;QD=13.92;ReadPosRankSum=-1.838;VQSLOD=3.8750;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,97:185:99:2606,0,2525 12 94976159 94976159 T C exonic TMCC3 synonymous SNV TMCC3:NM_001301036:exon2:c.A141G:p.V47V,TMCC3:NM_020698:exon2:c.A234G:p.V78V 0.33 0.24 0.41 0.35 0.32 0.36 0.3458 0.2578 0.5268 0.3286 0.2787 0.3347 0.3267 0.3555 0.31 0.26 0.34 0.27 0.3 rs3747551 COSM3998987 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3533 0.2540 0.5090 0.3744 0.3256 0.2819 0.3345 0.3636 0.3593 0.3066 0.2555 0.4833 0.3567 0.3174 0.2732 0.3310 0.3214 het 2986.01 246 12 94976159 . T C 2986.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.717;DP=246;DS;Dels=0.00;FS=0.468;HRun=0;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;MQRankSum=-1.346;QD=12.14;ReadPosRankSum=-0.644;VQSLOD=6.0096;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:129,117:246:99:3016,0,3345 12 95603098 95603098 G A exonic FGD6 synonymous SNV FGD6:NM_018351:exon2:c.C1962T:p.L654L 0.05 0.063 0.037 0.011 0.047 0.083 0.0474 0.0653 0.0289 0.0091 0.0086 0.0440 0.0661 0.0978 0.051 0.062 0.046 0.043 0.041 rs17023760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0472 0.0663 0.0287 0.1451 0.0094 0.0100 0.0403 0.0585 0.0973 0.0417 0.0640 0.0239 0.1589 0.0136 0.0140 0.0371 0.0367 het 1486.74 133 12 95603098 . G A 1486.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.472;DP=133;DS;Dels=0.00;FS=1.543;HRun=1;HaplotypeScore=6.4184;MQ=59.69;MQ0=0;MQRankSum=0.728;QD=11.18;ReadPosRankSum=-0.179;VQSLOD=4.7918;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,58:133:99:1517,0,2013 12 95604547 95604547 C T exonic FGD6 synonymous SNV FGD6:NM_018351:exon2:c.G513A:p.G171G 0.049 0.061 0.036 0.011 0.047 0.083 0.0469 0.0614 0.0275 0.0091 0.0086 0.0440 0.0662 0.0972 0.049 0.057 0.046 0.043 0.025 rs4762288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0466 0.0623 0.0274 0.1443 0.0094 0.0099 0.0403 0.0589 0.0967 0.0408 0.0608 0.0227 0.1589 0.0136 0.0140 0.0372 0.0367 het 748.89 64 12 95604547 . C T 748.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.531;DP=64;Dels=0.00;FS=0.958;HRun=0;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=2.203;QD=11.70;ReadPosRankSum=1.142;VQSLOD=5.5252;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,31:64:99:779,0,922 12 95604664 95604664 A G exonic FGD6 synonymous SNV FGD6:NM_018351:exon2:c.T396C:p.V132V 0.048 0.056 0.036 0.011 0.047 0.083 0.0466 0.0581 0.0274 0.0091 0.0086 0.0440 0.0661 0.0973 0.048 0.054 0.046 0.043 0.033 rs4762289 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0464 0.0587 0.0276 0.1448 0.0094 0.0100 0.0403 0.0585 0.0972 0.0398 0.0573 0.0215 0.1589 0.0136 0.0140 0.0373 0.0367 het 1746.97 131 12 95604664 . A G 1746.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.671;DP=131;Dels=0.00;FS=1.524;HRun=0;HaplotypeScore=1.6229;MQ=59.07;MQ0=0;MQRankSum=0.668;QD=13.34;ReadPosRankSum=-0.286;VQSLOD=6.8097;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,64:131:99:1777,0,1797 12 95660182 95660182 A G exonic VEZT nonsynonymous SNV VEZT:NM_017599:exon5:c.A484G:p.T162A 0.072 0.084 0.089 0.001 0.11 0.082 0.0857 0.0787 0.0487 0.0001 0.0839 0.1056 0.0746 0.0812 0.095 0.074 0.1 0.087 . rs17855933 . . . . . . . . . . . . . 0.278 0.337 T 0.002 0.090 B 0.003 0.093 B 0.002 0.368 N 0.817 0.304 P 1.32 0.331 L 0.99 0.456 T -0.6 0.379 N 0.216 0.265 -1.090 0.055 T 0.001 0.004 T . . . -0.038 0.090 2.236 0.493 0.041 0.601 0.308 D c -0.539 -0.396 0.190 0.180 0.732 0.924 0 2.88 0.325 0.778 0.262 1.088 0.866 0.488 0.266 0.565 0.282 4.088 0.094 Myosin-binding domain . . 0.0816 0.0758 0.0476 0.1193 0.0005 0.0801 0.1024 0.0933 0.0782 0.0843 0.0742 0.0489 0.1026 0.0006 0.0794 0.1030 0.0692 het 2966.95 223 12 95660182 . A G 2966.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.072;DP=223;DS;Dels=0.00;FS=1.643;HRun=0;HaplotypeScore=1.5810;MQ=59.18;MQ0=0;MQRankSum=-0.798;QD=13.30;ReadPosRankSum=0.713;VQSLOD=6.5123;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:110,113:223:99:2997,0,2964 12 95694111 95694111 T G exonic VEZT nonsynonymous SNV VEZT:NM_017599:exon12:c.T2002G:p.S668A 0.073 0.088 0.091 0.001 0.11 0.081 0.1070 0.0990 0.0702 0.0003 0.0986 0.1294 0.0930 0.0988 0.096 0.077 0.1 0.087 . rs17855934 COSM4997860;COSM4997858;COSM4997859 2(pancreas) . . . . . . . . . . . 0.209 0.197 T 0.001 0.067 B 0.0 0.013 B 0.004 0.346 N 1.000 0.090 P 0.345 0.112 N 2.54 0.139 T -0.48 0.160 N 0.033 0.023 -1.004 0.287 T 0.000 0.002 T . . . -1.459 0.018 0.003 0.847 0.149 0.200 0.207 N c -0.897 -0.801 0.041 0.145 0.707 0.730 0 4.15 0.478 1.335 0.332 0.053 0.162 0.012 0.185 0.178 0.212 6.624 0.219 . . . 0.0813 0.0776 0.0477 0.1192 0.0005 0.0799 0.1019 0.0934 0.0777 0.0844 0.0747 0.0478 0.1033 0.0006 0.0797 0.1028 0.0684 het 312.94 31 12 95694111 . T G 312.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.424;DP=31;Dels=0.00;FS=6.245;HRun=0;HaplotypeScore=0.0000;MQ=57.82;MQ0=0;MQRankSum=0.260;QD=10.09;ReadPosRankSum=-0.220;VQSLOD=4.8678;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,13:31:99:343,0,419 12 95694394 95694394 G A exonic VEZT nonsynonymous SNV VEZT:NM_017599:exon12:c.G2285A:p.G762D 0.76 0.95 0.69 0.66 0.68 0.71 0.7234 0.9269 0.6654 0.6798 0.6555 0.7149 0.7042 0.7289 0.78 0.92 0.71 0.81 . rs14121 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.992 0.239 P -2.175 0.001 N 3.67 0.044 T 4.31 0.000 N 0.113 0.315 -0.990 0.325 T 0.000 0.000 T . . . 0.792 0.169 9.413 0.241 0.010 0.044 0.098 N c -0.789 -0.453 0.971 0.292 0.707 0.730 0 5.65 0.868 5.527 0.666 0.168 0.246 1.000 0.715 0.975 0.474 11.761 0.510 . ENSG00000184752.8 Whole_Blood 0.7107 0.9276 0.6598 0.6976 0.6736 0.6444 0.7124 0.7071 0.7250 0.7555 0.9219 0.6451 0.6867 0.6842 0.6581 0.7014 0.6813 hom 3168.02 101 12 95694394 . G A 3168.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.698;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6385;MQ=58.78;MQ0=0;MQRankSum=1.561;QD=31.37;ReadPosRankSum=0.532;VQSLOD=9.1634;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,100:101:99:3201,262,0 12 95879734 95879734 C T exonic METAP2 synonymous SNV METAP2:NM_001317183:exon3:c.C336T:p.C112C,METAP2:NM_001317182:exon4:c.C336T:p.C112C,METAP2:NM_001330246:exon4:c.C402T:p.C134C,METAP2:NM_006838:exon4:c.C405T:p.C135C 0.037 0.0038 0.032 0.024 0.072 0.062 0.0519 0.0159 0.0269 0.0125 0.0328 0.0651 0.0508 0.0671 0.05 0.015 0.068 0.022 0.074 rs2305293 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0496 0.0135 0.0239 0.0341 0.0115 0.0354 0.0671 0.0482 0.0647 0.0422 0.0143 0.0430 0.0298 0.0129 0.0344 0.0623 0.0612 het 2244.59 167 12 95879734 . C T 2244.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.174;DP=167;DS;Dels=0.00;FS=2.186;HRun=0;HaplotypeScore=7.1523;MQ=58.36;MQ0=0;MQRankSum=2.126;QD=13.44;ReadPosRankSum=-1.208;VQSLOD=3.8441;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,85:167:99:2275,0,1926 12 95927762 95927762 T C exonic USP44 nonsynonymous SNV USP44:NM_001042403:exon2:c.A271G:p.T91A,USP44:NM_001278393:exon2:c.A271G:p.T91A,USP44:NM_001347937:exon2:c.A271G:p.T91A,USP44:NM_032147:exon2:c.A271G:p.T91A,USP44:NM_001347936:exon3:c.A271G:p.T91A 0.72 0.86 0.71 0.72 0.56 0.67 0.6120 0.8167 0.7862 0.7135 0.5451 0.5302 0.6170 0.6642 0.63 0.8 0.54 0.74 0.61 rs3812813 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 0.999 0.211 P -1.04 0.011 N 1.61 0.284 T 1.4 0.009 N 0.046 0.214 -0.965 0.383 T 0.000 0.000 T . . . -0.167 0.079 1.280 0.423 0.031 0.223 0.215 N c -0.855 -0.576 1.000 0.517 0.722 0.854 0 4.22 0.490 1.229 0.320 -0.404 0.062 0.865 0.305 0.199 0.217 9.607 0.386 Zinc finger\x2c RING/FYVE/PHD-type . . 0.6153 0.8202 0.7662 0.5419 0.7251 0.5415 0.5326 0.6059 0.6656 0.6275 0.8103 0.7518 0.5467 0.7392 0.5292 0.5291 0.5893 het 1695.61 125 12 95927762 . T C 1695.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.074;DP=125;Dels=0.00;FS=1.437;HRun=0;HaplotypeScore=1.6517;MQ=59.52;MQ0=0;MQRankSum=0.067;QD=13.56;ReadPosRankSum=1.099;VQSLOD=6.7254;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,64:125:99:1726,0,1612 12 96077312 96077312 C T exonic NTN4 synonymous SNV NTN4:NM_001329700:exon6:c.G1356A:p.A452A,NTN4:NM_001329701:exon6:c.G1245A:p.A415A,NTN4:NM_001329702:exon6:c.G1245A:p.A415A,NTN4:NM_021229:exon6:c.G1356A:p.A452A 0.12 0.02 0.21 . 0.3 0.12 0.2196 0.0527 0.1906 0.0007 0.3606 0.2817 0.2528 0.1504 0.2 0.055 0.27 0.14 0.3 rs17851048 COSM3753544 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2228 0.0481 0.1889 0.2608 0.0005 0.3579 0.2785 0.2569 0.1537 0.2089 0.0499 0.1993 0.3033 0.0006 0.3670 0.2813 0.2776 het 1994.55 186 12 96077312 . C T 1994.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.866;DP=186;Dels=0.00;FS=2.002;HRun=0;HaplotypeScore=2.6421;MQ=59.27;MQ0=0;MQRankSum=-0.141;QD=10.72;ReadPosRankSum=-1.427;VQSLOD=6.2404;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,77:186:99:2025,0,2840 12 96284650 96284650 A G exonic CCDC38 synonymous SNV CCDC38:NM_182496:exon9:c.T831C:p.A277A 0.75 0.91 0.54 0.74 0.71 0.75 0.7179 0.8834 0.4999 0.7387 0.7743 0.7153 0.7461 0.7413 0.76 0.88 0.7 0.76 0.66 rs6538681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7031 0.8890 0.5039 0.6293 0.7366 0.7774 0.7131 0.6974 0.7386 0.7678 0.8774 0.5576 0.6267 0.7460 0.7904 0.7169 0.7510 het 1039.09 96 12 96284650 . A G 1039.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.625;DP=96;Dels=0.00;FS=1.709;HRun=1;HaplotypeScore=0.9665;MQ=58.98;MQ0=0;MQRankSum=1.002;QD=10.82;ReadPosRankSum=0.604;VQSLOD=6.3121;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,43:96:99:1069,0,1473 12 96288860 96288860 T C exonic CCDC38 nonsynonymous SNV CCDC38:NM_182496:exon8:c.A679G:p.M227V 0.25 0.27 0.13 0.42 0.2 0.15 0.2022 0.2658 0.0910 0.4152 0.2793 0.1923 0.2141 0.1367 0.21 0.27 0.17 0.24 0.17 rs10859974 COSM4147529 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.132 0.265 T 0.0 0.026 B 0.0 0.013 B 0.001 0.402 N 1.000 0.588 P -1.24 0.008 N 3.02 0.090 T -0.72 0.204 N 0.047 0.028 -0.915 0.463 T 0.000 0.000 T . . . -0.442 0.059 0.305 0.730 0.098 0.202 0.208 N c -1.121 -0.965 0.000 0.012 0.487 0.133 0 -1.62 0.079 -0.048 0.118 0.190 0.249 0.816 0.297 0.984 0.507 0.360 0.003 Domain of unknown function DUF4200 . . 0.1985 0.2719 0.0985 0.2139 0.4194 0.2776 0.1845 0.2027 0.1341 0.2303 0.2641 0.1148 0.2119 0.4282 0.2831 0.1837 0.2296 het 2032.93 153 12 96288860 . T C 2032.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.892;DP=153;Dels=0.00;FS=4.041;HRun=0;HaplotypeScore=3.7797;MQ=59.28;MQ0=0;MQRankSum=1.035;QD=13.29;ReadPosRankSum=-1.210;VQSLOD=5.4953;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,77:153:99:2063,0,2104 12 96371731 96371731 C T exonic HAL nonsynonymous SNV HAL:NM_001258333:exon17:c.G1021A:p.V341M,HAL:NM_001258334:exon18:c.G1645A:p.V549M,HAL:NM_002108:exon18:c.G1645A:p.V549M 0.001 . 0.0014 . 0.004 . 0.0018 0.0007 0.0006 0 0.0002 0.0030 0.0011 0 0.0037 0.0011 0.005 . . rs61937878 . . . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 0.998 0.875 D 0.000 0.629 D 1.000 0.588 D 3.345 0.912 M -1.17 0.782 T -2.92 0.611 D 0.283 0.703 0.304 0.876 D 0.584 0.851 D 0.119 0.800 D 4.871 0.654 24.9 0.997 0.825 0.944 0.609 D c 0.312 0.195 1.000 0.747 0.516 0.203 0 3.93 0.445 4.766 0.617 0.022 0.145 1.000 0.715 0.900 0.381 12.309 0.541 L-Aspartase-like . . 0.0021 0.0005 0.0012 0 0 0.0004 0.0041 0.0018 0 0.0025 0.0009 0 0 0 0.0006 0.0043 0.0020 het 1510.86 140 12 96371731 . C T 1510.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.621;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4962;MQ=59.21;MQ0=0;MQRankSum=-1.302;QD=10.79;ReadPosRankSum=0.526;VQSLOD=5.2536;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,57:140:99:1541,0,2247 12 96374614 96374614 C T exonic HAL nonsynonymous SNV HAL:NM_001258333:exon15:c.G691A:p.V231I,HAL:NM_001258334:exon16:c.G1315A:p.V439I,HAL:NM_002108:exon16:c.G1315A:p.V439I 0.91 0.99 0.88 0.95 0.8 0.9 0.8468 0.9618 0.9081 0.9412 0.8538 0.7968 0.8469 0.8812 0.84 0.96 0.79 0.91 0.84 rs7297245 . . Benign Histidinemia RCV000385709.1 MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT C0220992:235800:ORPHA2157:124628005:410058007 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.182 P -1.1 0.010 N -0.94 0.753 T 0.48 0.030 N 0.055 0.077 -0.928 0.444 T 0.000 0.000 T . . . 0.329 0.126 5.976 0.082 0.001 0.150 0.185 N c -0.954 -0.685 0.988 0.313 0.549 0.223 0 4.8 0.610 2.144 0.416 0.154 0.240 0.995 0.385 0.749 0.321 10.689 0.449 Fumarase/histidase\x2c N-terminal|L-Aspartase-like;L-Aspartase-like ENSG00000111144.5|ENSG00000084110.6|ENSG00000111144.5|ENSG00000084110.6|ENSG00000084110.6 Adrenal_Gland|Esophagus_Mucosa|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.8465 0.9644 0.9005 0.8472 0.9425 0.8495 0.7890 0.8378 0.8831 0.8560 0.9539 0.8854 0.8377 0.9253 0.8545 0.7905 0.8589 hom 3961.86 126 12 96374614 . C T 3961.86 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5432;MQ=59.15;MQ0=0;QD=31.44;VQSLOD=9.3650;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:126:99:3961,313,0 12 97098549 97098549 T C exonic CFAP54 nonsynonymous SNV CFAP54:NM_001306084:exon47:c.T6503C:p.L2168P 0.82 0.97 0.84 0.91 0.73 0.61 0.7561 0.9348 0.8674 0.9174 0.8203 0.7096 0.7277 0.6422 0.77 0.92 0.69 0.78 0.42 rs11108643 COSM5001971 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.063 0.221 N 0.324 0.332 P -1.7 0.004 N . . . 4.08 0.001 N 0.196 0.240 -0.950 0.410 T 0.000 0.000 T . . . 1.018 0.192 10.77 0.108 0.001 0.005 0.024 N c -0.595 -0.444 0.001 0.081 0.651 0.465 0 4.88 0.630 1.551 0.356 -0.328 0.075 1.000 0.715 0.423 0.258 9.265 0.366 . ENSG00000139350.7 Testis 0.7397 0.9324 0.8526 0.7559 0.9048 0.8079 0.6860 0.7194 0.6194 0.7920 0.9261 0.8309 0.7533 0.8995 0.8085 0.6991 0.7651 het 741.85 62 12 97098549 . T C 741.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.431;DP=62;Dels=0.00;FS=3.558;HRun=1;HaplotypeScore=1.6553;MQ=57.30;MQ0=0;MQRankSum=1.902;QD=11.97;ReadPosRankSum=-1.125;VQSLOD=3.4883;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,34:62:99:772,0,596 12 97102578 97102578 G A exonic CFAP54 nonsynonymous SNV CFAP54:NM_001306084:exon48:c.G6721A:p.E2241K 0.92 0.97 0.9 0.95 0.82 0.93 0.8649 0.9561 0.9222 0.9529 0.9047 0.8136 0.8451 0.9142 0.86 0.95 0.81 0.91 0.58 rs7968231 COSM4147532 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.47 0.001 N . . . 1.17 0.011 N 0.169 0.204 -0.929 0.443 T 0.000 0.000 T . . . 1.239 0.214 11.95 0.201 0.007 0.002 0.011 N c -0.682 -0.550 0.001 0.078 0.651 0.465 0 5.07 0.680 3.058 0.494 0.244 0.267 0.988 0.363 0.661 0.301 8.022 0.294 . ENSG00000139350.7|ENSG00000139350.7 Testis|Whole_Blood 0.8659 0.9546 0.9159 0.8326 0.9535 0.9002 0.8113 0.8422 0.9150 0.8711 0.9487 0.8819 0.8146 0.9418 0.9002 0.8123 0.8676 het 832.78 63 12 97102578 . G A 832.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.209;DP=63;Dels=0.00;FS=2.178;HRun=2;HaplotypeScore=2.9800;MQ=56.23;MQ0=0;MQRankSum=0.392;QD=13.22;ReadPosRankSum=0.833;VQSLOD=3.5225;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,33:63:99:863,0,785 12 97136239 97136239 G A exonic CFAP54 nonsynonymous SNV CFAP54:NM_001306084:exon52:c.G7094A:p.S2365N 0.91 0.98 0.87 0.95 0.81 0.92 0.8537 0.9624 0.9112 0.9533 0.8984 0.7968 0.8296 0.9050 0.85 0.96 0.79 0.91 0.71 rs1990828 . . . . . . . . . . . . . 0.699 0.042 T 0.0 0.026 B 0.0 0.013 B 0.949 0.076 N 1 0.090 P -0.725 0.018 N . . . 0.87 0.017 N 0.014 0.002 -0.983 0.342 T 0.000 0.000 T . . . 0.193 0.112 4.606 0.660 0.077 0.002 0.013 N c -1.468 -1.405 0.000 0.035 0.651 0.465 0 -1.83 0.074 -0.551 0.061 -0.653 0.041 0.000 0.063 0.162 0.208 1.040 0.014 . ENSG00000139350.7|ENSG00000139350.7 Testis|Whole_Blood 0.8555 0.9632 0.9027 0.8012 0.9550 0.8949 0.7953 0.8265 0.9060 0.8652 0.9568 0.8628 0.7815 0.9432 0.8958 0.7986 0.8574 het 529.24 51 12 97136239 . G A 529.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.761;DP=51;Dels=0.00;FS=1.064;HRun=1;HaplotypeScore=0.6651;MQ=59.51;MQ0=0;MQRankSum=-1.330;QD=10.38;ReadPosRankSum=-0.450;VQSLOD=6.1513;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,21:51:99:559,0,827 12 98927830 98927830 C G exonic TMPO nonsynonymous SNV TMPO:NM_003276:exon4:c.C1795G:p.Q599E 0.059 0.003 0.04 0.001 0.11 0.16 0.0875 0.0162 0.0403 0.0005 0.1034 0.0989 0.0958 0.1595 0.071 0.022 0.097 0.022 0.057 rs17459334 . . Benign|Benign|Likely benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant RCV000037747.4|RCV000243987.1|RCV000291455.1 MedGen|MedGen|MedGen CN169374|CN230736|CN239310 . . . . . . 0.1 0.305 T 0.919 0.489 P 0.45 0.443 P 0.054 0.228 N 0.511 0.810 P 1.04 0.263 L 0.24 0.596 T -0.13 0.090 N 0.218 0.267 -1.063 0.110 T 0.004 0.013 T . . . 1.914 0.291 15.67 0.983 0.397 0.819 0.410 D c 0.364 0.470 1.000 0.747 0.672 0.522 0 5.96 0.967 2.191 0.420 0.935 0.490 1.000 0.715 1.000 0.888 15.922 0.793 . ENSG00000227825.3|ENSG00000227825.3|ENSG00000120802.9 Heart_Atrial_Appendage|Heart_Left_Ventricle|Pancreas 0.0862 0.0149 0.0403 0.1079 0.0008 0.1001 0.0986 0.0841 0.1584 0.0686 0.0190 0.0489 0.0767 0.0006 0.1085 0.0957 0.0804 het 1070.10 109 12 98927830 . C G 1070.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.262;DP=109;Dels=0.00;FS=2.508;HRun=0;HaplotypeScore=3.4504;MQ=59.31;MQ0=0;MQRankSum=0.608;QD=9.82;ReadPosRankSum=0.262;VQSLOD=5.4683;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,44:109:99:1100,0,1769 12 99007623 99007623 C T exonic IKBIP nonsynonymous SNV IKBIP:NM_201612:exon3:c.G793A:p.G265S 0.39 0.53 0.33 0.35 0.3 0.38 0.3415 0.5038 0.3471 0.3491 0.3000 0.3115 0.3304 0.3702 0.38 0.5 0.31 0.4 0.28 rs1048906 COSM3753552 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.588 P -0.6 0.022 N 1.16 0.381 T -0.15 0.093 N 0.015 0.002 -0.909 0.471 T 0.000 0.000 T . . . 0.222 0.115 4.909 0.466 0.037 0.156 0.188 N c -1.063 -0.828 0.776 0.237 0.732 0.924 0 1.86 0.244 1.916 0.394 -0.440 0.057 1.000 0.715 0.993 0.574 9.883 0.402 . ENSG00000166130.10|ENSG00000166130.10|ENSG00000166130.10|ENSG00000166130.10|ENSG00000166130.10|ENSG00000120868.9|ENSG00000166130.10|ENSG00000166130.10|ENSG00000166130.10|ENSG00000166130.10|ENSG00000166130.10|ENSG00000166130.10|ENSG00000166130.10|ENSG00000166130.10|ENSG00000120868.9|ENSG00000166130.10|ENSG00000120868.9|ENSG00000166130.10|ENSG00000166130.10|ENSG00000120868.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Stomach|Thyroid|Thyroid 0.3339 0.5060 0.3284 0.2755 0.3508 0.3052 0.3119 0.3132 0.3678 0.3627 0.4960 0.3401 0.2848 0.3408 0.3016 0.3081 0.3082 het 1740.84 181 12 99007623 . C T 1740.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.257;DP=181;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.8323;MQ=59.46;MQ0=0;MQRankSum=1.239;QD=9.62;ReadPosRankSum=0.355;VQSLOD=5.4786;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,72:181:99:1771,0,2864 12 99640428 99640428 T C exonic ANKS1B synonymous SNV ANKS1B:NM_152788:exon13:c.A1971G:p.S657S 0.55 0.39 0.54 0.79 0.4 0.67 0.4807 0.3874 0.5464 0.7926 0.3982 0.4069 0.4676 0.6588 0.4 0.38 0.4 0.5 . rs3751323 COSM3931776;COSM3931777 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4811 0.3839 0.5336 0.4433 0.7947 0.4079 0.4002 0.4356 0.6632 0.4312 0.3796 0.5346 0.4636 0.8043 0.4124 0.4182 0.4426 het 484.14 27 12 99640428 . T C 484.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.344;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=0.765;QD=17.93;ReadPosRankSum=-0.814;VQSLOD=7.1864;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,16:27:99:514,0,317 12 99640557 99640557 T C exonic ANKS1B synonymous SNV ANKS1B:NM_152788:exon13:c.A1842G:p.P614P 0.63 0.3 0.65 0.91 0.61 0.81 0.6622 0.3508 0.6495 0.8979 0.5581 0.6532 0.6526 0.8080 0.56 0.36 0.66 0.55 . rs1552759 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6653 0.3422 0.6505 0.7429 0.9027 0.5647 0.6510 0.6523 0.8097 0.5657 0.3406 0.6830 0.7682 0.9017 0.5742 0.6439 0.6235 het 2706.84 221 12 99640557 . T C 2706.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.291;DP=221;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.3232;MQ=58.20;MQ0=1;MQRankSum=-0.891;QD=12.25;ReadPosRankSum=-0.106;VQSLOD=4.3231;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,114:221:99:2737,0,2837 12 100042040 100042040 C G exonic FAM71C nonsynonymous SNV FAM71C:NM_153364:exon1:c.C88G:p.R30G 0.22 0.31 0.18 0.099 0.29 0.17 0.2631 0.2998 0.1289 0.1050 0.3423 0.3117 0.2698 0.1882 0.3 0.3 0.3 0.29 0.28 rs11109968 COSM5617785 1(breast) . . . . . . . . . . . 0.004 0.654 D 0.971 0.552 D 0.755 0.544 P 0.681 0.103 N 0.991 0.240 P 2.11 0.588 M 2.64 0.128 T -6.37 0.910 D 0.124 0.140 -0.920 0.456 T 0.000 0.000 T . . . 3.990 0.537 23.6 0.981 0.381 0.198 0.206 N c -0.462 -0.629 0.000 0.012 0.487 0.133 0 2.13 0.263 0.752 0.258 0.061 0.167 0.598 0.275 0.001 0.043 6.523 0.213 . . . 0.2552 0.2958 0.1415 0.2571 0.1000 0.3417 0.3095 0.2628 0.1842 0.2935 0.3034 0.1734 0.2483 0.0907 0.3348 0.3077 0.2939 het 1795.06 133 12 100042040 . C G 1795.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.278;DP=133;Dels=0.00;FS=1.568;HRun=2;HaplotypeScore=4.6834;MQ=59.55;MQ0=0;MQRankSum=0.497;QD=13.50;ReadPosRankSum=-1.010;VQSLOD=5.3163;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,66:133:99:1825,0,1783 12 100042163 100042163 A G exonic FAM71C nonsynonymous SNV FAM71C:NM_153364:exon1:c.A211G:p.M71V 0.22 0.3 0.18 0.099 0.29 0.18 0.2623 0.2862 0.1294 0.1052 0.3423 0.3118 0.2698 0.1900 0.29 0.29 0.3 0.24 0.28 rs11109969 COSM5021770 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.011 0.298 N 0.999 0.211 P -0.68 0.020 N 3.17 0.076 T 2.7 0.002 N 0.071 0.059 -0.903 0.477 T 0.000 0.000 T . . . -2.284 0.005 0.001 0.428 0.032 0.000 0.004 N c -1.413 -1.358 0.000 0.012 0.487 0.133 0 1.97 0.252 -0.081 0.112 -0.245 0.091 0.016 0.191 0.010 0.111 6.277 0.201 . . . 0.2548 0.2836 0.1416 0.2561 0.1003 0.3417 0.3098 0.2634 0.1862 0.2893 0.2910 0.1703 0.2483 0.0911 0.3346 0.3066 0.2904 het 2549.31 204 12 100042163 . A G 2549.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.089;DP=204;Dels=0.00;FS=2.468;HRun=0;HaplotypeScore=2.8271;MQ=59.70;MQ0=0;MQRankSum=-0.457;QD=12.50;ReadPosRankSum=-0.269;VQSLOD=6.0906;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,93:204:99:2579,0,3194 12 100708367 100708367 C T exonic SCYL2 nonsynonymous SNV SCYL2:NM_001317784:exon8:c.C1070T:p.P357L,SCYL2:NM_001330253:exon8:c.C1070T:p.P357L,SCYL2:NM_001330254:exon8:c.C1070T:p.P357L,SCYL2:NM_017988:exon8:c.C1070T:p.P357L,SCYL2:NM_001330256:exon9:c.C551T:p.P184L 0.035 0.0061 0.046 . 0.11 0.027 0.0838 0.0181 0.0406 0 0.1008 0.1216 0.1053 0.0380 0.086 0.02 0.12 0.065 0.082 rs33968174 . . . . . . . . . . . . . 0.015 0.682 D 0.996 0.670 D 0.919 0.637 D 0.000 0.843 D 1 0.810 D 2.045 0.562 M 1.52 0.307 T -7.57 0.952 D 0.252 0.671 -1.129 0.018 T 0.003 0.009 T . . . 6.950 0.934 33 0.999 0.956 0.993 0.940 D c 0.603 0.634 1.000 0.747 0.732 0.924 0 5.43 0.789 7.634 0.823 0.935 0.490 1.000 0.715 0.999 0.750 19.617 0.956 Armadillo-like helical|Armadillo-type fold . . 0.0832 0.0163 0.0453 0.0788 6.21e-05 0.0965 0.1237 0.0849 0.0388 0.0882 0.0230 0.0609 0.0828 0.0006 0.0970 0.1337 0.1100 het 605.56 65 12 100708367 . C T 605.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.167;DP=65;Dels=0.00;FS=0.984;HRun=0;HaplotypeScore=2.8637;MQ=57.89;MQ0=0;MQRankSum=0.704;QD=9.32;ReadPosRankSum=0.267;VQSLOD=4.9644;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,26:65:99:636,0,1077 12 100709420 100709420 C T exonic SCYL2 synonymous SNV SCYL2:NM_001317784:exon9:c.C1180T:p.L394L,SCYL2:NM_001330253:exon9:c.C1180T:p.L394L,SCYL2:NM_001330254:exon9:c.C1180T:p.L394L,SCYL2:NM_017988:exon9:c.C1180T:p.L394L,SCYL2:NM_001330256:exon10:c.C661T:p.L221L 0.11 0.13 0.12 0.003 0.2 0.098 0.1373 0.1204 0.1015 0.0054 0.1134 0.1730 0.1333 0.1082 0.16 0.12 0.18 0.13 0.17 rs10860577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1360 0.1181 0.1018 0.1901 0.0055 0.1168 0.1753 0.1567 0.1058 0.1353 0.1204 0.1205 0.1933 0.0025 0.1213 0.1620 0.1237 het 1336.50 119 12 100709420 . C T 1336.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.866;DP=119;Dels=0.00;FS=0.696;HRun=2;HaplotypeScore=3.8468;MQ=58.90;MQ0=0;MQRankSum=0.149;QD=11.23;ReadPosRankSum=0.964;VQSLOD=5.8467;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,55:119:99:1366,0,1692 12 100732327 100732327 C T exonic SCYL2 synonymous SNV SCYL2:NM_001317784:exon18:c.C2167T:p.L723L,SCYL2:NM_017988:exon18:c.C2167T:p.L723L,SCYL2:NM_001330253:exon19:c.C2173T:p.L725L,SCYL2:NM_001330254:exon19:c.C2173T:p.L725L,SCYL2:NM_001330256:exon20:c.C1654T:p.L552L 0.24 0.39 0.19 0.059 0.27 0.21 0.2272 0.3671 0.1427 0.0616 0.1648 0.2474 0.2220 0.2298 0.29 0.35 0.26 0.28 0.25 rs10860580 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2174 0.3689 0.1481 0.2315 0.0600 0.1644 0.2523 0.2294 0.2112 0.2599 0.3703 0.1663 0.2119 0.0630 0.1740 0.2480 0.1888 het 1208.31 105 12 100732327 . C T 1208.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.859;DP=105;Dels=0.00;FS=2.637;HRun=1;HaplotypeScore=1.8561;MQ=58.86;MQ0=0;MQRankSum=0.395;QD=11.51;ReadPosRankSum=-0.369;VQSLOD=5.8002;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,50:105:99:1238,0,1311 12 101017445 101017445 T C exonic GAS2L3 synonymous SNV GAS2L3:NM_001303130:exon9:c.T862C:p.L288L,GAS2L3:NM_001303131:exon10:c.T550C:p.L184L,GAS2L3:NM_174942:exon10:c.T862C:p.L288L 0.8 0.68 0.86 0.96 0.78 0.76 0.7829 0.6938 0.9037 0.9559 0.8387 0.7564 0.7852 0.7486 0.74 0.7 0.75 0.76 0.77 rs1469385 COSM3752837 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7910 0.6914 0.8929 0.7612 0.9593 0.8456 0.7511 0.7927 0.7494 0.7528 0.6828 0.8633 0.7417 0.9560 0.8305 0.7448 0.7935 hom 1836.77 58 12 101017445 . T C 1836.77 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6723;MQ=57.33;MQ0=0;QD=31.67;VQSLOD=6.5903;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1870,147,0 12 101018014 101018014 T C exonic GAS2L3 synonymous SNV GAS2L3:NM_001303130:exon9:c.T1431C:p.N477N,GAS2L3:NM_001303131:exon10:c.T1119C:p.N373N,GAS2L3:NM_174942:exon10:c.T1431C:p.N477N 0.34 0.27 0.38 0.27 0.53 0.26 0.4353 0.2935 0.3617 0.2740 0.5138 0.5155 0.4581 0.3016 0.45 0.29 0.53 0.37 0.56 rs1045602 COSM147585 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4389 0.2915 0.3697 0.4596 0.2798 0.5120 0.5230 0.4833 0.3051 0.4327 0.2863 0.3801 0.4404 0.2953 0.5046 0.5156 0.4786 het 886.62 68 12 101018014 . T C 886.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.608;DP=68;Dels=0.00;FS=2.156;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.356;QD=13.04;ReadPosRankSum=0.442;VQSLOD=6.6197;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:917,0,951 12 101552075 101552075 G A exonic SLC5A8 synonymous SNV SLC5A8:NM_145913:exon14:c.C1662T:p.Y554Y 0.75 0.9 0.6 0.81 0.64 0.72 0.6817 0.8700 0.5760 0.8209 0.6565 0.6454 0.6589 0.7229 0.72 0.87 0.64 0.73 0.6 rs2671444 COSM3752838 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6700 0.8727 0.5756 0.6923 0.8171 0.6489 0.6387 0.6662 0.7112 0.7152 0.8754 0.6012 0.6457 0.8228 0.6540 0.6346 0.6663 hom 4535.16 151 12 101552075 . G A 4535.16 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.363;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7900;MQ=58.72;MQ0=0;MQRankSum=1.617;QD=30.03;ReadPosRankSum=1.455;VQSLOD=7.3664;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,149:151:99:4502,332,0 12 101560328 101560328 C A exonic SLC5A8 nonsynonymous SNV SLC5A8:NM_145913:exon12:c.G1470T:p.M490I 0.26 0.15 0.13 0.54 0.25 0.23 0.2345 0.1422 0.1139 0.5571 0.3139 0.2245 0.2489 0.2157 0.19 0.14 0.22 0.23 0.17 rs164365 COSM4146467 1(thyroid) . . . . . . . . . . . 0.434 0.094 T 0.002 0.090 B 0.002 0.063 B 0.681 0.103 N 1 0.090 P 1.7 0.440 L 0.02 0.623 T -0.26 0.112 N 0.056 0.071 -0.897 0.483 T 0.000 0.000 T . . . 0.675 0.158 8.661 0.442 0.033 0.026 0.071 N c -0.639 -0.569 0.002 0.090 0.487 0.133 0 2.95 0.331 0.241 0.177 0.935 0.490 0.012 0.185 0.532 0.276 3.719 0.079 . . . 0.2330 0.1393 0.1223 0.2677 0.5511 0.3124 0.2162 0.2315 0.2146 0.2214 0.1410 0.1337 0.2233 0.5374 0.3022 0.2184 0.2510 het 1145.82 97 12 101560328 . C A 1145.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.702;DP=97;Dels=0.00;FS=2.651;HRun=1;HaplotypeScore=4.9802;MQ=57.91;MQ0=0;MQRankSum=0.607;QD=11.81;ReadPosRankSum=-1.643;VQSLOD=4.6080;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,52:97:99:1176,0,1048 12 101561940 101561940 A T exonic SLC5A8 synonymous SNV SLC5A8:NM_145913:exon11:c.T1254A:p.G418G 0.19 0.07 0.081 0.54 0.14 0.14 0.1942 0.0845 0.0822 0.5783 0.2712 0.1714 0.1869 0.1460 0.11 0.07 0.13 0.16 0.098 rs9634221 COSM4432145 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1561 0.0681 0.0691 0.1582 0.5481 0.2337 0.1265 0.1469 0.1228 0.1446 0.0718 0.0752 0.1457 0.5384 0.2281 0.1285 0.1527 het 290.99 27 12 101561940 . A T 290.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.732;DP=27;Dels=0.00;FS=3.473;HRun=1;HaplotypeScore=1.9985;MQ=57.73;MQ0=0;MQRankSum=0.512;QD=10.78;ReadPosRankSum=-1.049;VQSLOD=4.1657;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:321,0,335 12 101587518 101587518 C T exonic SLC5A8 nonsynonymous SNV SLC5A8:NM_145913:exon5:c.G577A:p.V193I 0.28 0.22 0.13 0.54 0.25 0.22 0.2393 0.1973 0.1168 0.5573 0.3145 0.2242 0.2522 0.2151 0.21 0.19 0.22 0.27 0.18 rs1709189 COSM3998638 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.244 0.174 T 0.0 0.026 B 0.008 0.127 B 0.000 0.559 D 0.018 0.399 P 0.33 0.104 N -2.3 0.877 D -0.15 0.093 N 0.02 0.047 -0.956 0.399 T 0.000 0.000 T . . . 2.488 0.360 19.39 0.992 0.547 0.727 0.353 D c -0.247 -0.062 0.000 0.059 0.487 0.133 0 3.6 0.402 2.459 0.444 0.852 0.362 1.000 0.715 1.000 0.888 12.077 0.528 . . . 0.2374 0.1962 0.1265 0.2715 0.5504 0.3132 0.2163 0.2340 0.2149 0.2357 0.1904 0.1352 0.2318 0.5385 0.3028 0.2185 0.2515 het 1919.34 150 12 101587518 . C T 1919.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.535;DP=150;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.3302;MQ=58.22;MQ0=0;MQRankSum=-2.885;QD=12.80;ReadPosRankSum=0.122;VQSLOD=3.4750;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,76:150:99:1949,0,2046 12 101683929 101683929 C T exonic UTP20 synonymous SNV UTP20:NM_014503:exon7:c.C612T:p.N204N 0.67 0.85 0.58 0.6 0.61 0.61 0.6079 0.8182 0.5490 0.5820 0.6782 0.5897 0.5691 0.5754 0.68 0.82 0.6 0.77 0.38 rs703715 COSM5426223 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6104 0.8290 0.5746 0.5403 0.6028 0.6820 0.5939 0.5789 0.5740 0.6685 0.8275 0.5766 0.5563 0.6154 0.6682 0.5923 0.6186 het 554.32 73 12 101683929 . C T 554.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.652;DP=73;Dels=0.00;FS=5.468;HRun=0;HaplotypeScore=0.9993;MQ=59.49;MQ0=0;MQRankSum=0.570;QD=7.59;ReadPosRankSum=-2.237;VQSLOD=4.3403;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,24:73:99:584,0,1248 12 101685852 101685852 G A exonic UTP20 synonymous SNV UTP20:NM_014503:exon10:c.G1143A:p.P381P 0.088 0.022 0.11 0.028 0.17 0.14 0.1386 0.0408 0.0756 0.0288 0.1488 0.1675 0.1564 0.1800 0.12 0.042 0.17 0.098 0.11 rs11110737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1384 0.0393 0.0762 0.2026 0.0271 0.1503 0.1676 0.1556 0.1800 0.1229 0.0372 0.0983 0.1788 0.0290 0.1608 0.1722 0.1541 het 1854.39 137 12 101685852 . G A 1854.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.912;DP=137;DS;Dels=0.01;FS=0.864;HRun=0;HaplotypeScore=6.2589;MQ=59.01;MQ0=0;MQRankSum=0.450;QD=13.44;ReadPosRankSum=0.683;VQSLOD=5.1859;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,65:137:99:1884,0,2025 12 101693534 101693534 C G exonic UTP20 nonsynonymous SNV UTP20:NM_014503:exon13:c.C1505G:p.S502C 0.11 0.044 0.13 0.029 0.18 0.17 0.1578 0.0562 0.0968 0.0297 0.1658 0.1892 0.1762 0.2006 0.14 0.057 0.19 0.12 0.2 rs4764643 COSM3752839 2(large_intestine) . . . . . . . . . . . 0.016 0.518 D 0.976 0.564 D 0.602 0.490 P 0.000 0.843 D 0.971 0.256 P 1.955 0.530 M -0.28 0.676 T -2.73 0.580 D 0.164 0.198 -1.153 0.009 T 0.001 0.002 T . . . 4.045 0.543 23.7 0.984 0.401 0.883 0.479 D c 0.107 0.048 1.000 0.747 0.732 0.924 0 5.75 0.904 3.118 0.499 0.935 0.490 0.839 0.300 0.340 0.244 18.121 0.895 Armadillo-type fold ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9 Brain_Cerebellar_Hemisphere|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.1551 0.0559 0.0907 0.2047 0.0276 0.1662 0.1894 0.1790 0.1956 0.1463 0.0558 0.1160 0.1921 0.0302 0.1781 0.2037 0.1653 het 1303.27 95 12 101693534 . C G 1303.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.239;DP=95;Dels=0.00;FS=1.726;HRun=0;HaplotypeScore=1.9905;MQ=58.81;MQ0=0;MQRankSum=0.527;QD=13.72;ReadPosRankSum=-0.701;VQSLOD=6.1786;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,51:95:99:1333,0,1125 12 101750814 101750814 T A exonic UTP20 nonsynonymous SNV UTP20:NM_014503:exon43:c.T5645A:p.L1882Q 1. 1. 1. 1. 0.99 1. 0.9917 0.9988 0.9959 0.9998 0.9867 0.9879 0.9912 0.9975 0.99 1. 0.99 1. 1. rs10082778 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.463 N 0.998 0.222 P -1.43 0.006 N 1.03 0.405 T 3.31 0.001 N 0.056 0.039 -0.961 0.389 T 0.000 0.000 T . . . 1.139 0.204 11.42 0.840 0.145 0.462 0.275 N c -0.870 -0.641 0.999 0.398 0.745 0.986 0 4.66 0.577 4.435 0.594 0.242 0.267 1.000 0.715 0.435 0.260 6.479 0.211 Armadillo-like helical|Armadillo-type fold . . 0.9922 0.9989 0.9958 0.9966 0.9999 0.9891 0.9878 0.9916 0.9973 0.9920 0.9979 0.9940 1 0.9994 0.9905 0.9881 0.9878 hom 3681.14 115 12 101750814 . T A 3681.14 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.80;MQ0=0;QD=32.01;VQSLOD=9.2560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3681,289,0 12 101761753 101761753 A G exonic UTP20 nonsynonymous SNV UTP20:NM_014503:exon48:c.A6383G:p.K2128R 0.003 . 0.0043 . 0.0099 0.002 0.0095 0.0014 0.0016 0 0.0169 0.0146 0.0055 0.0021 0.0078 0.0007 0.011 0.011 0.0082 rs117476305 . . . . . . . . . . . . . 0.034 0.440 D 0.717 0.403 P 0.194 0.349 B 0.000 0.843 D 1.000 0.588 D 1.95 0.526 M -0.15 0.652 T -1.99 0.459 N 0.081 0.074 -0.964 0.384 T 0.124 0.428 T . . . 3.196 0.443 22.7 0.997 0.809 0.981 0.794 D c 0.055 0.100 0.633 0.220 0.707 0.730 0 4.44 0.530 5.750 0.681 1.199 0.960 1.000 0.715 0.901 0.381 11.504 0.495 Armadillo-like helical|Armadillo-type fold . . 0.0090 0.0014 0.0020 0.0086 0 0.0164 0.0140 0.0095 0.0020 0.0133 0.0010 0.0072 0.0066 0 0.0215 0.0204 0.0153 het 2827.69 231 12 101761753 . A G 2827.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.758;DP=231;DS;Dels=0.00;FS=3.097;HRun=2;HaplotypeScore=1.5616;MQ=59.60;MQ0=0;MQRankSum=-2.194;QD=12.24;ReadPosRankSum=0.412;VQSLOD=4.6186;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,105:231:99:2858,0,3578 12 101776996 101776996 G C exonic UTP20 nonsynonymous SNV UTP20:NM_014503:exon59:c.G7834C:p.E2612Q 0.087 0.018 0.12 0.028 0.17 0.14 0.1377 0.0356 0.0754 0.0286 0.1507 0.1688 0.1578 0.1699 0.12 0.038 0.17 0.098 0.19 rs1061436 COSM3752840 1(prostate);1(large_intestine) . . . . . . . . . . . 0.464 0.086 T 0.514 0.355 P 0.059 0.252 B 0.139 0.184 N 1 0.090 P 1.95 0.526 M 3.52 0.049 T -0.55 0.168 N 0.032 0.012 -0.937 0.431 T 0.000 0.000 T . . . 0.283 0.121 5.530 0.959 0.276 0.708 0.345 D c -0.527 -0.576 0.000 0.063 0.707 0.730 0 2.43 0.287 3.227 0.507 0.873 0.381 0.702 0.284 0.002 0.062 10.166 0.419 . ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9|ENSG00000120805.9 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.1380 0.0343 0.0779 0.2072 0.0272 0.1527 0.1686 0.1566 0.1705 0.1236 0.0342 0.0945 0.1887 0.0309 0.1637 0.1745 0.1578 het 908.77 67 12 101776996 . G C 908.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.207;DP=67;Dels=0.00;FS=8.488;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;MQRankSum=-2.232;QD=13.56;ReadPosRankSum=-1.289;VQSLOD=2.7410;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,36:67:99:939,0,858 12 102036305 102036305 C T exonic MYBPC1 synonymous SNV MYBPC1:NM_001254722:exon7:c.C621T:p.D207D,MYBPC1:NM_001254720:exon8:c.C663T:p.D221D,MYBPC1:NM_001254721:exon8:c.C642T:p.D214D,MYBPC1:NM_001254723:exon8:c.C660T:p.D220D,MYBPC1:NM_001254718:exon9:c.C699T:p.D233D,MYBPC1:NM_001254719:exon9:c.C699T:p.D233D,MYBPC1:NM_206820:exon9:c.C699T:p.D233D,MYBPC1:NM_206821:exon9:c.C699T:p.D233D,MYBPC1:NM_002465:exon11:c.C774T:p.D258D,MYBPC1:NM_206819:exon11:c.C774T:p.D258D 0.29 0.29 0.25 0.39 0.28 0.25 0.3003 0.3007 0.2465 0.4014 0.3536 0.3079 0.2700 0.2316 0.29 0.29 0.29 0.3 0.24 rs2293468 COSM3752842;COSM3752841 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) Benign|Benign not_specified|Distal_arthrogryposis RCV000117659.2|RCV000301296.1 MedGen|MedGen:Orphanet CN169374|C0265213:ORPHA97120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2884 0.2901 0.2373 0.2652 0.3943 0.3342 0.2987 0.3013 0.2194 0.2987 0.2787 0.2811 0.2715 0.4139 0.3333 0.2898 0.3221 het 227.99 33 12 102036305 . C T 227.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.351;DP=33;Dels=0.00;FS=1.901;HRun=0;HaplotypeScore=2.8246;MQ=58.86;MQ0=0;MQRankSum=0.059;QD=6.91;ReadPosRankSum=1.195;VQSLOD=5.0705;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,10:33:99:258,0,657 12 102064118 102064118 T C exonic MYBPC1 synonymous SNV MYBPC1:NM_001254722:exon20:c.T2391C:p.I797I,MYBPC1:NM_001254720:exon21:c.T2433C:p.I811I,MYBPC1:NM_001254721:exon21:c.T2412C:p.I804I,MYBPC1:NM_001254723:exon21:c.T2430C:p.I810I,MYBPC1:NM_001254719:exon22:c.T2469C:p.I823I,MYBPC1:NM_206821:exon22:c.T2469C:p.I823I,MYBPC1:NM_001254718:exon23:c.T2523C:p.I841I,MYBPC1:NM_206820:exon23:c.T2523C:p.I841I,MYBPC1:NM_002465:exon24:c.T2544C:p.I848I,MYBPC1:NM_206819:exon24:c.T2544C:p.I848I 0.96 0.94 0.97 1. 0.95 0.97 0.9542 0.9445 0.9727 0.9998 0.9598 0.9466 0.9548 0.9520 0.95 0.94 0.95 0.97 0.98 rs7139095 . . Benign|Benign not_specified|Distal_arthrogryposis RCV000117656.2|RCV000316999.1 MedGen|MedGen:Orphanet CN169374|C0265213:ORPHA97120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9576 0.9451 0.9765 0.9735 0.9998 0.9573 0.9472 0.9538 0.9533 0.9538 0.9466 0.9690 0.9868 1 0.9542 0.9515 0.9510 hom 7527.76 246 12 102064118 . T C 7527.76 Mask AC=2;AF=1.00;AN=2;DP=246;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4685;MQ=58.99;MQ0=0;QD=30.60;VQSLOD=8.2954;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7527,575,0 12 102069077 102069077 A G exonic MYBPC1 synonymous SNV MYBPC1:NM_001254722:exon22:c.A2664G:p.P888P,MYBPC1:NM_001254720:exon23:c.A2706G:p.P902P,MYBPC1:NM_001254721:exon23:c.A2685G:p.P895P,MYBPC1:NM_001254723:exon23:c.A2703G:p.P901P,MYBPC1:NM_001254719:exon24:c.A2742G:p.P914P,MYBPC1:NM_206821:exon24:c.A2742G:p.P914P,MYBPC1:NM_001254718:exon25:c.A2796G:p.P932P,MYBPC1:NM_206820:exon25:c.A2796G:p.P932P,MYBPC1:NM_002465:exon26:c.A2817G:p.P939P,MYBPC1:NM_206819:exon26:c.A2817G:p.P939P 0.14 0.042 0.13 0.11 0.25 0.21 0.2217 0.0709 0.1236 0.0846 0.2612 0.2741 0.2400 0.2274 0.21 0.082 0.28 0.16 0.31 rs764291 COSM4146473;COSM4146472 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Distal_arthrogryposis RCV000117657.2|RCV000332149.1 MedGen|MedGen:Orphanet CN169374|C0265213:ORPHA97120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2237 0.0684 0.1364 0.3022 0.0861 0.2643 0.2757 0.2438 0.2271 0.2055 0.0780 0.1459 0.3033 0.0981 0.2696 0.2760 0.2337 het 717.98 69 12 102069077 . A G 717.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.814;DP=69;Dels=0.00;FS=1.024;HRun=2;HaplotypeScore=0.9967;MQ=59.46;MQ0=0;MQRankSum=-0.514;QD=10.41;ReadPosRankSum=1.785;VQSLOD=6.1627;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:748,0,1106 12 102117589 102117589 C T exonic CHPT1 synonymous SNV CHPT1:NM_020244:exon7:c.C1029T:p.N343N 0.7 0.81 0.55 0.89 0.52 0.64 0.5980 0.7746 0.5732 0.8979 0.5910 0.5302 0.5791 0.6240 0.61 0.77 0.52 0.69 0.38 rs11082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5931 0.7754 0.5798 0.5552 0.8995 0.5883 0.5253 0.5759 0.6184 0.6213 0.7634 0.5998 0.5795 0.9043 0.5878 0.5205 0.5809 hom 2258.66 80 12 102117589 . C T 2258.66 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.6426;MQ=60.00;MQ0=0;QD=28.23;VQSLOD=6.9017;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2292,175,0 12 102158763 102158763 T C exonic GNPTAB synonymous SNV GNPTAB:NM_024312:exon13:c.A1932G:p.T644T 0.65 0.62 0.53 0.9 0.53 0.64 0.5885 0.6407 0.5642 0.9014 0.6275 0.5316 0.5773 0.6234 0.56 0.64 0.52 0.56 0.51 rs10778148 COSM1127589 1(prostate);1(thyroid) Benign|Benign|Benign not_specified|Mucolipidosis\x2c_Type_II|Mucolipidosis\x2c_Type_III_Alpha/Beta RCV000082189.5|RCV000268458.1|RCV000301696.1 MedGen|MedGen|MedGen CN169374|CN239398|CN239170 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5901 0.6404 0.5750 0.5471 0.9041 0.6242 0.5277 0.5781 0.6234 0.5896 0.6339 0.5778 0.5662 0.9103 0.6251 0.5218 0.5926 hom 4847.35 153 12 102158763 . T C 4847.35 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9053;MQ=58.99;MQ0=0;QD=31.68;VQSLOD=9.6058;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4847,385,0 12 102455729 102455729 G A exonic WASHC3 synonymous SNV WASHC3:NM_001301107:exon1:c.C12T:p.D4D,WASHC3:NM_016053:exon1:c.C12T:p.D4D 0.28 0.3 0.25 0.43 0.22 0.19 0.3173 0.3589 0.3695 0.4944 0.4327 0.2913 0.2907 0.2207 0.25 0.31 0.22 0.25 . rs3751129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2464 0.3115 0.2654 0.1913 0.4361 0.3143 0.2082 0.2415 0.1916 0.2701 0.3045 0.2530 0.1689 0.4214 0.3084 0.2275 0.2721 het 122.74 15 12 102455729 . G A 122.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.059;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.47;MQ0=0;MQRankSum=0.884;QD=8.18;ReadPosRankSum=-1.237;VQSLOD=5.2539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,6:15:99:153,0,227 12 103237468 103237468 G C exonic PAH synonymous SNV PAH:NM_000277:exon11:c.C1155G:p.L385L 0.84 0.79 0.88 0.84 0.84 0.87 0.8582 0.7994 0.9203 0.8414 0.9056 0.8473 0.8535 0.8865 0.83 0.8 0.84 0.88 0.82 rs772897 . . not provided\x2cBenign not_provided\x2cnot_specified RCV000088769.1\x2cRCV000153631.2 MedGen\x2cMedGen CN221809\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8617 0.7983 0.9127 0.8223 0.8398 0.9064 0.8464 0.8540 0.8866 0.8505 0.8088 0.9153 0.7881 0.8379 0.9132 0.8574 0.8765 hom 2732.03 79 12 103237468 . G C 2732.03 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=34.58;VQSLOD=9.7266;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2765,217,0 12 103248924 103248924 C T exonic PAH synonymous SNV PAH:NM_000277:exon6:c.G696A:p.Q232Q 0.55 0.8 0.69 0.079 0.58 0.55 0.5785 0.7752 0.6963 0.0919 0.5942 0.5909 0.5551 0.5712 0.65 0.77 0.59 0.62 0.58 rs1126758 . . not provided\x2cBenign not_provided\x2cnot_specified RCV000089040.1\x2cRCV000153637.2 MedGen\x2cMedGen CN221809\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5811 0.7807 0.7043 0.5492 0.0909 0.6005 0.5959 0.5755 0.5654 0.6309 0.7747 0.7033 0.5 0.0944 0.6076 0.6130 0.5724 hom 3118.73 110 12 103248924 . C T 3118.73 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=28.35;VQSLOD=8.4627;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:110:99:3152,244,0 12 103872172 103872172 T G exonic C12orf42 nonsynonymous SNV C12orf42:NM_001099336:exon2:c.A33C:p.E11D,C12orf42:NM_198521:exon2:c.A33C:p.E11D . . . . . . 0.6458 0.3720 0.7989 0.5310 0.6903 0.6952 0.6120 0.5390 0.58 0.35 0.68 0.48 . rs10778257 COSM5001573;COSM5001574 1(pancreas) . . . . . . . . . . . 0.0 0.912 D 0.215 0.284 B 0.072 0.266 B . . . 1 0.090 P 0.345 0.112 N 1.27 0.365 T -1.06 0.297 N 0.04 0.234 -0.985 0.339 T 0.000 0.000 T . . . 2.539 0.366 19.72 0.990 0.487 0.019 0.057 N c -1.040 -1.118 0.000 0.041 0.554 0.283 0 -0.6 0.110 0.050 0.139 0.789 0.320 0.004 0.165 0.014 0.122 2.691 0.048 . . . 0.6286 0.3356 0.7765 0.6372 0.4915 0.6715 0.6742 0.6257 0.4948 0.5742 0.3567 0.7363 0.6556 0.4888 0.6670 0.6719 0.6674 hom 669.44 26 12 103872172 . T G 669.44 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.46;MQ0=0;QD=25.75;VQSLOD=7.2037;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,25:26:54.17:702,54,0 12 104067812 104067812 C T exonic STAB2 synonymous SNV STAB2:NM_017564:exon23:c.C2499T:p.Y833Y 0.42 0.32 0.39 0.53 0.38 0.52 0.3969 0.3078 0.3773 0.5140 0.4537 0.3766 0.4075 0.4643 0.35 0.3 0.37 0.38 0.29 rs11614418 COSM4146483 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3983 0.3056 0.3807 0.4064 0.5135 0.4360 0.3725 0.3978 0.4634 0.3632 0.3009 0.3962 0.3940 0.4957 0.4261 0.3646 0.4143 het 2269.74 198 12 104067812 . C T 2269.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.375;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4169;MQ=59.27;MQ0=0;MQRankSum=0.293;QD=11.46;ReadPosRankSum=-1.385;VQSLOD=4.5360;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:109,89:198:99:2300,0,2858 12 104086631 104086631 C T exonic STAB2 synonymous SNV STAB2:NM_017564:exon31:c.C3339T:p.N1113N 0.47 0.45 0.41 0.56 0.46 0.45 0.4474 0.4473 0.4108 0.5323 0.4737 0.4434 0.4414 0.4339 0.44 0.44 0.44 0.51 0.34 rs703651 COSM147590 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4465 0.4464 0.4143 0.4802 0.5319 0.4618 0.4407 0.4432 0.4331 0.4499 0.4467 0.4282 0.5 0.5254 0.4642 0.4409 0.4417 het 775.09 103 12 104086631 . C T 775.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.189;DP=103;Dels=0.00;FS=0.786;HRun=0;HaplotypeScore=4.3116;MQ=59.78;MQ0=0;MQRankSum=0.067;QD=7.53;ReadPosRankSum=0.422;VQSLOD=4.7950;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,34:103:99:805,0,1523 12 104092996 104092996 T C exonic STAB2 synonymous SNV STAB2:NM_017564:exon34:c.T3705C:p.H1235H 0.35 0.42 0.38 0.37 0.31 0.28 0.3122 0.3957 0.3479 0.4037 0.2849 0.2866 0.3013 0.3013 0.33 0.39 0.3 0.33 0.34 rs697210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3128 0.3943 0.3492 0.3023 0.4024 0.2892 0.2858 0.3035 0.3023 0.3241 0.3903 0.3687 0.3433 0.4180 0.2993 0.2804 0.2951 het 736.84 67 12 104092996 . T C 736.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.470;DP=67;Dels=0.00;FS=11.201;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.120;QD=11.00;ReadPosRankSum=1.721;VQSLOD=3.9148;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,30:67:99:767,0,959 12 104100617 104100617 C T exonic STAB2 synonymous SNV STAB2:NM_017564:exon38:c.C4044T:p.C1348C 0.43 0.12 0.33 0.75 0.5 0.52 0.4835 0.1870 0.3002 0.7217 0.6572 0.4986 0.5022 0.5423 0.39 0.2 0.49 0.33 0.46 rs697212 COSM3752848 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4862 0.1822 0.3056 0.5399 0.7297 0.6702 0.4880 0.4794 0.5419 0.4392 0.1916 0.3234 0.52 0.7170 0.6681 0.4975 0.5551 hom 3710.06 124 12 104100617 . C T 3710.06 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6103;MQ=58.97;MQ0=0;QD=29.92;VQSLOD=8.8665;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:124:99:3709,304,0 12 104136316 104136316 C T exonic STAB2 synonymous SNV STAB2:NM_017564:exon56:c.C6015T:p.F2005F 0.13 0.045 0.18 0.25 0.096 0.14 0.1287 0.0467 0.2578 0.2144 0.1288 0.1095 0.1189 0.1232 0.083 0.05 0.1 0.087 0.11 rs2292688 COSM3752850 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1320 0.0424 0.2436 0.0833 0.2141 0.1389 0.1044 0.1070 0.1242 0.1047 0.0475 0.2017 0.0993 0.1917 0.1435 0.1127 0.1273 het 2846.40 224 12 104136316 . C T 2846.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.607;DP=224;DS;Dels=0.00;FS=3.079;HRun=2;HaplotypeScore=10.0017;MQ=59.37;MQ0=0;MQRankSum=-0.292;QD=12.71;ReadPosRankSum=0.574;VQSLOD=4.2980;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,108:224:99:2876,0,2883 12 104139034 104139034 C A exonic STAB2 nonsynonymous SNV STAB2:NM_017564:exon57:c.C6115A:p.P2039T 0.078 0.19 0.059 . 0.071 0.034 0.0683 0.1935 0.0497 0.0001 0.0802 0.0669 0.0615 0.0393 0.11 0.19 0.065 0.033 0.082 rs7306642 COSM3752851 1(large_intestine) . . . . . vWF and FVIII levels . .30 21810271 rs7306642 3E-6 0.279 0.155 T 0.016 0.161 B 0.012 0.149 B 0.954 0.077 U 0.998 0.226 P 1.29 0.325 L 1.3 0.356 T -2.33 0.516 N 0.051 0.032 -1.026 0.216 T 0.000 0.000 T . . . 1.140 0.204 11.43 0.573 0.056 0.731 0.355 D c -0.572 -0.463 0.001 0.080 0.554 0.283 0 3.39 0.378 2.369 0.436 0.935 0.490 0.597 0.275 0.174 0.211 11.591 0.500 EGF-like domain|EGF-like\x2c conserved site . . 0.0656 0.1907 0.0539 0.1122 5.807e-05 0.0762 0.0641 0.0659 0.0357 0.1020 0.1862 0.0632 0.1225 0 0.0747 0.0747 0.0642 het 485.81 47 12 104139034 . C A 485.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.536;DP=47;Dels=0.00;FS=1.225;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=0.225;QD=10.34;ReadPosRankSum=-0.353;VQSLOD=6.2673;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,21:47:99:516,0,746 12 104171742 104171742 C T exonic NT5DC3 synonymous SNV NT5DC3:NM_001031701:exon14:c.G1512A:p.L504L 0.22 0.087 0.21 0.44 0.18 0.24 0.2211 0.0922 0.2926 0.4592 0.2810 0.1854 0.2236 0.2478 0.14 0.095 0.17 0.18 0.11 rs17034524 COSM3752852;COSM147592 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2261 0.0878 0.2816 0.2356 0.4627 0.2767 0.1772 0.1962 0.2455 0.1943 0.0945 0.2506 0.2318 0.4591 0.2817 0.1970 0.2336 het 1621.27 112 12 104171742 . C T 1621.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.994;DP=112;Dels=0.00;FS=0.715;HRun=1;HaplotypeScore=4.9737;MQ=59.79;MQ0=0;MQRankSum=-0.103;QD=14.48;ReadPosRankSum=-0.121;VQSLOD=5.4076;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,59:112:99:1651,0,1422 12 104373728 104373728 - A exonic TDG frameshift insertion TDG:NM_003211:exon3:c.287dupA:p.I98Nfs*5 0.47 0.49 0.46 0.48 0.43 0.48 0.4489 0.4911 0.4836 0.4838 0.4412 0.4265 0.4464 0.4725 0.45 0.49 0.42 . . rs151041931 COSM112087 1(ovary);6(skin);20(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4401 0.4916 0.4785 0.4537 0.4788 0.4330 0.4073 0.4330 0.4642 0.4495 0.4909 0.4854 0.4409 0.4795 0.4457 0.4199 0.4259 het 719.22 61 12 104373728 . G GA 719.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.530;DP=61;FS=2.434;HRun=6;HaplotypeScore=116.3083;MQ=56.39;MQ0=0;MQRankSum=1.410;QD=11.79;ReadPosRankSum=0.130;set=variant2 GT:AD:DP:GQ:PL 0/1:34,27:61:99:758,0,616 12 104645363 104645363 G A exonic TXNRD1 unknown UNKNOWN 0.78 0.72 0.75 0.85 0.84 0.75 0.8071 0.7087 0.7041 0.8677 0.8280 0.8395 0.7976 0.7676 0.81 0.75 0.84 0.85 . rs7960443 COSM4146484 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8051 0.7067 0.7072 0.8455 0.8696 0.8245 0.8398 0.8257 0.7683 0.7979 0.7107 0.7649 0.8311 0.8696 0.8145 0.8379 0.8010 hom 1660.05 48 12 104645363 . G A 1660.05 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2312;MQ=58.55;MQ0=0;QD=34.58;VQSLOD=9.1477;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1693,135,0 12 104645384 104645384 C G exonic TXNRD1 unknown UNKNOWN 0.012 0.0023 0.0086 . 0.047 0.0041 0.0335 0.0053 0.0072 0 0.1593 0.0400 0.0543 0.0084 0.025 0.005 0.035 0.011 . rs73180108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0359 0.0056 0.0102 0.0152 0 0.1577 0.0381 0.0409 0.0085 0.0472 0.0063 0.0107 0.0232 0 0.1658 0.0496 0.0682 het 682 57 12 104645384 . C G 682 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.036;DP=57;Dels=0.00;FS=4.100;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;MQRankSum=-0.104;QD=11.96;ReadPosRankSum=2.684;VQSLOD=3.4243;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,26:57:99:712,0,878 12 104645405 104645405 T C exonic TXNRD1 unknown UNKNOWN 0.85 0.86 0.78 0.87 0.84 0.85 0.8335 0.8505 0.7135 0.8884 0.8281 0.8427 0.8186 0.8445 0.85 0.86 0.84 0.91 . rs7975161 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8293 0.8536 0.7182 0.8640 0.8909 0.8248 0.8424 0.8397 0.8466 0.8412 0.8540 0.7745 0.8377 0.8861 0.8154 0.8407 0.8112 hom 2396.94 83 12 104645405 . T C 2396.94 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=28.88;VQSLOD=8.7697;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2430,190,0 12 104698582 104698582 A G exonic EID3 synonymous SNV EID3:NM_001008394:exon1:c.A870G:p.Q290Q 0.49 0.36 0.52 0.61 0.53 0.5 0.5260 0.3806 0.5237 0.6216 0.4422 0.5497 0.5089 0.5028 0.51 0.41 0.55 0.58 . rs11111987 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5249 0.383 0.5189 0.5504 0.6240 0.4358 0.5513 0.5451 0.5032 0.4940 0.3973 0.5644 0.5265 0.6292 0.4200 0.5459 0.5297 het 1844.42 147 12 104698582 . A G 1844.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.890;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.92;MQ0=0;MQRankSum=1.025;QD=12.55;ReadPosRankSum=-0.506;VQSLOD=6.7568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,76:147:99:1874,0,1666 12 104709559 104709559 C T exonic TXNRD1 unknown UNKNOWN 0.31 0.43 0.24 0.2 0.34 0.28 0.3095 0.4088 0.1885 0.2167 0.4039 0.3179 0.3182 0.3102 0.34 0.39 0.31 0.24 . rs4964287 COSM4418000;COSM4418003;COSM4418002;COSM4418001 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3034 0.4018 0.1977 0.3013 0.2145 0.4087 0.3149 0.2992 0.3026 0.3428 0.3949 0.2153 0.3146 0.2130 0.4147 0.3204 0.2984 het 777.45 61 12 104709559 . C T 777.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.353;DP=61;Dels=0.00;FS=2.971;HRun=1;HaplotypeScore=1.5226;MQ=59.24;MQ0=0;MQRankSum=0.267;QD=12.75;ReadPosRankSum=0.224;VQSLOD=6.7940;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,31:61:99:807,0,837 12 105433523 105433523 T A exonic ALDH1L2 synonymous SNV ALDH1L2:NM_001034173:exon17:c.A2013T:p.G671G 0.31 0.16 0.26 0.26 0.37 0.53 0.3681 0.1872 0.3305 0.2621 0.3574 0.3779 0.3976 0.5274 0.32 0.19 0.38 0.25 0.37 rs4964317 COSM3998643 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3671 0.1808 0.3356 0.3070 0.2647 0.3511 0.3819 0.3634 0.5295 0.3152 0.1887 0.3481 0.35 0.2728 0.3405 0.3839 0.3361 het 1659.14 144 12 105433523 . T A 1659.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.231;DP=144;Dels=0.00;FS=3.054;HRun=1;HaplotypeScore=6.2592;MQ=58.14;MQ0=0;MQRankSum=0.873;QD=11.52;ReadPosRankSum=-0.004;VQSLOD=4.6217;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,67:144:99:1689,0,1933 12 105434467 105434467 C T exonic ALDH1L2 synonymous SNV ALDH1L2:NM_001034173:exon16:c.G1869A:p.T623T 0.3 0.14 0.26 0.26 0.37 0.53 0.3665 0.1687 0.3295 0.2626 0.3571 0.3779 0.3976 0.5274 0.31 0.17 0.38 0.25 0.34 rs11112330 COSM147598 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3661 0.1634 0.3351 0.3071 0.2648 0.3510 0.3821 0.3634 0.5295 0.3104 0.1703 0.3473 0.3477 0.2721 0.3403 0.3845 0.3357 het 3153.63 208 12 105434467 . C T 3153.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.426;DP=208;DS;Dels=0.00;FS=1.484;HRun=0;HaplotypeScore=4.4861;MQ=59.29;MQ0=0;MQRankSum=0.563;QD=15.16;ReadPosRankSum=-0.844;VQSLOD=5.4442;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:99,109:208:99:3184,0,2471 12 105546172 105546172 G A exonic WASHC4 nonsynonymous SNV WASHC4:NM_001293640:exon26:c.G2704A:p.V902I,WASHC4:NM_015275:exon26:c.G2701A:p.V901I 0.98 1. 0.97 1. 0.92 0.99 0.9464 0.9873 0.9668 1 0.9457 0.9213 0.9567 0.9815 0.94 0.98 0.92 0.96 0.88 rs1663564 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P 0.04 0.081 N 0.86 0.468 T 0.32 0.040 N 0.037 0.017 -0.979 0.353 T 0.000 0.000 T . . . 1.708 0.266 14.45 0.264 0.013 0.446 0.271 N c -0.583 -0.390 0.887 0.257 0.707 0.730 0 4.05 0.462 2.795 0.473 0.194 0.250 1.000 0.715 0.998 0.697 5.606 0.165 WASH complex subunit 7\x2c central domain ENSG00000136051.9 Muscle_Skeletal 0.9467 0.9864 0.9676 0.9761 0.9999 0.9442 0.9156 0.9428 0.9802 0.9480 0.9833 0.9654 0.9570 1 0.9491 0.9214 0.9315 hom 1958.57 67 12 105546172 . G A 1958.57 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.23;VQSLOD=13.8621;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1992,150,0 12 105568122 105568122 G A exonic APPL2 synonymous SNV APPL2:NM_001251904:exon21:c.C1983T:p.N661N,APPL2:NM_001251905:exon21:c.C1836T:p.N612N,APPL2:NM_018171:exon21:c.C1965T:p.N655N 0.93 0.93 0.92 1. 0.85 0.97 0.8815 0.9325 0.9262 0.9994 0.8878 0.8331 0.8921 0.9489 0.86 0.93 0.83 0.96 0.81 rs935241 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8833 0.9333 0.9255 0.9052 0.9997 0.8876 0.8263 0.8670 0.9470 0.8729 0.9309 0.9153 0.8841 0.9994 0.8951 0.8195 0.8452 hom 2166.94 67 12 105568122 . G A 2166.94 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=32.34;VQSLOD=10.0223;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2200,178,0 12 105568176 105568176 G A exonic APPL2 synonymous SNV APPL2:NM_001251904:exon21:c.C1929T:p.D643D,APPL2:NM_001251905:exon21:c.C1782T:p.D594D,APPL2:NM_018171:exon21:c.C1911T:p.D637D 0.93 0.93 0.92 1. 0.85 0.97 0.8815 0.9325 0.9262 0.9994 0.8878 0.8330 0.8921 0.9489 0.86 0.93 0.83 0.96 0.83 rs935240 COSM3812419 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8833 0.9335 0.9256 0.9050 0.9994 0.8876 0.8263 0.8667 0.9470 0.8730 0.9310 0.9151 0.8841 0.9988 0.8949 0.8197 0.8452 hom 3008.32 96 12 105568176 . G A 3008.32 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.76;MQ0=0;QD=31.34;VQSLOD=9.4365;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3041,238,0 12 105583877 105583877 G A exonic APPL2 nonsynonymous SNV APPL2:NM_001251904:exon15:c.C1316T:p.A439V,APPL2:NM_001251905:exon15:c.C1169T:p.A390V,APPL2:NM_018171:exon15:c.C1298T:p.A433V 0.19 0.1 0.25 0.26 0.19 0.18 0.2028 0.1109 0.2704 0.2534 0.2299 0.2033 0.2059 0.1738 . . . 0.23 0.15 rs2272495 COSM3752860 1(breast);8(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.13 0.369 T 0.043 0.202 B 0.054 0.244 B 0.065 0.219 N 1 0.090 P 2.28 0.651 M 2.71 0.233 T -1.28 0.338 N 0.206 0.253 -1.005 0.283 T 0.000 0.000 T . . . 1.145 0.204 11.46 0.990 0.491 0.423 0.266 N c -0.635 -0.590 1.000 0.404 0.672 0.522 0 4.51 0.544 1.478 0.348 1.044 0.665 0.024 0.198 0.069 0.175 8.502 0.321 . ENSG00000136044.7|ENSG00000257642.1|ENSG00000136044.7 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Whole_Blood 0.2069 0.1105 0.2642 0.1828 0.2535 0.2355 0.2012 0.2045 0.1740 0.1747 0.1127 0.2590 0.1854 0.2537 0.2278 0.1838 0.1922 het 1990.35 157 12 105583877 . G A 1990.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.321;DP=157;Dels=0.00;FS=4.223;HRun=0;HaplotypeScore=6.9810;MQ=59.23;MQ0=0;MQRankSum=-0.328;QD=12.68;ReadPosRankSum=-0.403;VQSLOD=4.8065;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,81:157:99:2020,0,1959 12 105600935 105600935 G A exonic APPL2 synonymous SNV APPL2:NM_001251904:exon8:c.C543T:p.H181H,APPL2:NM_001251905:exon8:c.C396T:p.H132H,APPL2:NM_018171:exon8:c.C525T:p.H175H 0.18 0.079 0.24 0.26 0.19 0.2 0.2027 0.0866 0.2692 0.2534 0.2301 0.2040 0.2080 0.1858 0.16 0.087 0.2 0.22 0.15 rs2293643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2067 0.0859 0.2624 0.1823 0.2533 0.2351 0.2015 0.2042 0.1860 0.1685 0.0899 0.2554 0.1867 0.2522 0.2282 0.1846 0.1925 het 1272.55 100 12 105600935 . G A 1272.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.748;DP=100;Dels=0.00;FS=0.862;HRun=0;HaplotypeScore=4.4102;MQ=59.63;MQ0=0;MQRankSum=1.844;QD=12.73;ReadPosRankSum=0.162;VQSLOD=5.5176;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,50:100:99:1303,0,1316 12 106838340 106838340 T C exonic POLR3B synonymous SNV POLR3B:NM_001160708:exon19:c.T1881C:p.Y627Y,POLR3B:NM_018082:exon19:c.T2055C:p.Y685Y 0.32 0.014 0.36 0.7 0.27 0.35 0.3143 0.0525 0.3993 0.7055 0.3823 0.2741 0.3337 0.3500 0.19 0.06 0.26 0.24 0.25 rs10861607 COSM1358426 1(breast);2(haematopoietic_and_lymphoid_tissue);2(large_intestine) Likely benign|Benign not_specified|Pol_III-related_leukodystrophy RCV000118025.2|RCV000294165.1 MedGen|MedGen CN169374|CN168056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3211 0.0483 0.3819 0.3371 0.7026 0.3691 0.2616 0.3144 0.3541 0.2426 0.0515 0.3616 0.3133 0.7345 0.3463 0.2646 0.3047 het 1663.85 112 12 106838340 . T C 1663.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.068;DP=112;Dels=0.00;FS=4.366;HRun=1;HaplotypeScore=6.3243;MQ=59.35;MQ0=0;MQRankSum=-0.044;QD=14.86;ReadPosRankSum=0.275;VQSLOD=4.8623;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,61:112:99:1694,0,1250 12 106903321 106903321 T C exonic POLR3B synonymous SNV POLR3B:NM_001160708:exon28:c.T3222C:p.N1074N,POLR3B:NM_018082:exon28:c.T3396C:p.N1132N 0.32 0.041 0.37 0.69 0.27 0.36 0.3241 0.0776 0.4029 0.6749 0.3890 0.2889 0.3444 0.3559 0.21 0.089 0.27 0.2 0.25 rs13561 COSM3752870 1(breast);1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid);1(large_intestine) Likely benign|Benign not_specified|Pol_III-related_leukodystrophy RCV000118027.2|RCV000329648.1 MedGen|MedGen CN169374|CN168056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3306 0.0740 0.3882 0.3544 0.6697 0.3792 0.2769 0.3259 0.3583 0.2565 0.0775 0.3648 0.3245 0.6866 0.3600 0.2783 0.3238 het 1337.74 97 12 106903321 . T C 1337.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.250;DP=97;Dels=0.00;FS=0.915;HRun=0;HaplotypeScore=2.7178;MQ=58.34;MQ0=0;MQRankSum=1.045;QD=13.79;ReadPosRankSum=0.218;VQSLOD=5.9272;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,54:97:99:1368,0,1132 12 107395106 107395106 A G exonic CRY1 synonymous SNV CRY1:NM_004075:exon5:c.T636C:p.G212G 0.79 0.86 0.76 0.96 0.63 0.72 0.6890 0.8251 0.8171 0.9742 0.5733 0.6132 0.6993 0.7161 0.69 0.82 0.62 0.75 0.68 rs8192440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6891 0.8289 0.8095 0.5556 0.9750 0.5721 0.6188 0.6617 0.7150 0.6923 0.8284 0.7828 0.5629 0.9747 0.5756 0.6117 0.6245 het 858.71 94 12 107395106 . A G 858.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.296;DP=94;Dels=0.00;FS=1.706;HRun=0;HaplotypeScore=5.2009;MQ=57.82;MQ0=0;MQRankSum=0.738;QD=9.14;ReadPosRankSum=1.396;VQSLOD=4.4987;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,40:94:99:889,0,1237 12 108035903 108035903 T C exonic BTBD11 synonymous SNV BTBD11:NM_001017523:exon12:c.T1488C:p.D496D,BTBD11:NM_001347943:exon12:c.T2520C:p.D840D,BTBD11:NM_001347944:exon12:c.T1422C:p.D474D,BTBD11:NM_001018072:exon14:c.T2877C:p.D959D 0.2 0.38 0.14 0.003 0.19 0.18 0.1753 0.3331 0.0950 0.0007 0.1498 0.1827 0.1894 0.2028 0.24 0.33 0.19 0.34 0.21 rs9919712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1689 0.3365 0.0992 0.1802 0.0009 0.1497 0.1856 0.1771 0.2038 0.2043 0.3307 0.1348 0.1788 0.0019 0.1503 0.1728 0.1568 het 2232.73 202 12 108035903 . T C 2232.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.333;DP=202;Dels=0.00;FS=1.095;HRun=0;HaplotypeScore=7.3685;MQ=59.22;MQ0=0;MQRankSum=-0.538;QD=11.05;ReadPosRankSum=-0.845;VQSLOD=4.5301;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,92:202:99:2263,0,2852 12 108051406 108051406 G A exonic BTBD11 nonsynonymous SNV BTBD11:NM_001017523:exon15:c.G1837A:p.G613S,BTBD11:NM_001347943:exon15:c.G2869A:p.G957S,BTBD11:NM_001347944:exon15:c.G1771A:p.G591S,BTBD11:NM_001018072:exon17:c.G3226A:p.G1076S 0.1 0.2 0.069 0.001 0.096 0.12 0.0892 0.1614 0.0460 0.0003 0.0370 0.0931 0.1038 0.1251 0.12 0.16 0.094 0.13 0.16 rs12303478 . . . . . . . . . . . . . 0.198 0.289 T 0.123 0.252 B 0.008 0.127 B 0.000 0.843 D 0.000 0.516 P 0.955 0.240 L 1.28 0.390 T -1.24 0.524 N 0.154 0.184 -1.113 0.029 T 0.001 0.002 T . . . 3.782 0.511 23.4 0.992 0.559 0.964 0.686 D c 0.001 0.168 0.998 0.362 0.706 0.609 0 5.6 0.849 6.153 0.714 0.953 0.551 1.000 0.715 0.977 0.480 19.630 0.957 Ankyrin repeat-containing domain;BTB/POZ domain|SKP1/BTB/POZ domain;Histone-fold . . 0.0847 0.1659 0.0470 0.1108 0.0005 0.0359 0.0939 0.0919 0.1253 0.0962 0.1607 0.0670 0.1225 0.0019 0.0332 0.0861 0.0735 het 1893.87 122 12 108051406 . G A 1893.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.076;DP=122;Dels=0.00;FS=2.409;HRun=0;HaplotypeScore=7.4142;MQ=59.85;MQ0=0;MQRankSum=-0.217;QD=15.52;ReadPosRankSum=-1.007;VQSLOD=4.2649;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,69:122:99:1924,0,1406 12 108686008 108686008 C G exonic CMKLR1 synonymous SNV CMKLR1:NM_001142344:exon3:c.G732C:p.V244V,CMKLR1:NM_001142345:exon3:c.G732C:p.V244V,CMKLR1:NM_004072:exon3:c.G726C:p.V242V,CMKLR1:NM_001142343:exon4:c.G732C:p.V244V 0.37 0.65 0.32 0.012 0.45 0.32 0.3865 0.6070 0.2393 0.0059 0.3510 0.4502 0.4022 0.3136 0.51 0.6 0.47 0.45 0.52 rs1057401 COSM3752875 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3789 0.6120 0.2538 0.4641 0.0055 0.3501 0.4567 0.4206 0.3136 0.4481 0.6150 0.3258 0.4603 0.0080 0.3599 0.4314 0.3622 het 811.02 80 12 108686008 . C G 811.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.912;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9985;MQ=59.42;MQ0=0;MQRankSum=-0.859;QD=10.14;ReadPosRankSum=-0.437;VQSLOD=6.3099;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,32:80:99:841,0,1330 12 108918146 108918146 C T exonic SART3 synonymous SNV SART3:NM_014706:exon18:c.G2661A:p.P887P 0.81 0.65 0.83 0.94 0.83 0.85 0.8312 0.6575 0.8435 0.9266 0.8127 0.8389 0.8282 0.8585 0.78 0.67 0.83 0.81 0.8 rs2303633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8337 0.6576 0.8406 0.8609 0.9237 0.8079 0.8382 0.8347 0.8565 0.7894 0.6653 0.8508 0.8907 0.9191 0.8171 0.8345 0.8086 hom 6628.33 191 12 108918146 . C T 6628.33 Mask AC=2;AF=1.00;AN=2;DP=191;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6227;MQ=59.71;MQ0=0;QD=34.70;VQSLOD=9.4948;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:6628,521,0 12 108923950 108923950 A G exonic SART3 synonymous SNV SART3:NM_014706:exon15:c.T1884C:p.D628D 0.81 0.65 0.83 0.94 0.83 0.85 0.8311 0.6569 0.8432 0.9264 0.8129 0.8389 0.8282 0.8586 0.78 0.67 0.83 0.8 0.8 rs1549096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8337 0.6570 0.8406 0.8610 0.9237 0.8079 0.8383 0.8346 0.8564 0.7896 0.6648 0.8520 0.8907 0.9188 0.8171 0.8352 0.8078 hom 6403.33 225 12 108923950 . A G 6403.33 Mask AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6104;MQ=59.12;MQ0=0;QD=28.46;VQSLOD=7.2365;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:6402,514,0 12 108941679 108941679 G A exonic SART3 synonymous SNV SART3:NM_014706:exon3:c.C528T:p.A176A 0.1 0.024 0.063 0.14 0.096 0.2 0.1070 0.0403 0.0602 0.1074 0.0710 0.0980 0.1086 0.2321 0.083 0.045 0.1 0.098 0.098 rs12579216 COSM147603 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1055 0.0415 0.0641 0.1255 0.1051 0.0722 0.0982 0.0947 0.2284 0.0757 0.0404 0.0430 0.1291 0.1162 0.0730 0.0932 0.0774 het 684.66 53 12 108941679 . G A 684.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.507;DP=53;Dels=0.00;FS=1.209;HRun=0;HaplotypeScore=0.9916;MQ=59.21;MQ0=0;MQRankSum=-1.628;QD=12.92;ReadPosRankSum=0.471;VQSLOD=5.9824;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,27:53:99:715,0,627 12 108954823 108954823 C T exonic SART3 synonymous SNV SART3:NM_014706:exon1:c.G108A:p.R36R 0.75 0.44 0.81 0.94 0.83 0.85 0.8152 0.4860 0.8333 0.9259 0.8129 0.8385 0.8223 0.8582 0.72 0.51 0.83 0.71 0.78 rs1063936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8213 0.4864 0.8299 0.8611 0.9237 0.8077 0.8380 0.8283 0.8565 0.7422 0.4994 0.8409 0.8907 0.9190 0.8171 0.8343 0.8002 hom 2228.73 77 12 108954823 . C T 2228.73 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5507;MQ=59.05;MQ0=0;QD=28.94;VQSLOD=8.1783;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:77:99:2262,178,0 12 108954862 108954862 G C exonic SART3 nonsynonymous SNV SART3:NM_014706:exon1:c.C69G:p.D23E 0.25 0.14 0.39 0.38 0.16 0.25 0.2234 0.1730 0.4590 0.3260 0.1109 0.1728 0.1907 0.2883 0.18 0.18 0.18 0.25 0.17 rs2072579 COSM3752878;COSM3752877 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.090 B 0.0 0.133 B 0.003 0.353 N 1.000 0.197 P -1.1 0.010 N 2.69 0.515 T -0.11 0.279 N 0.01 0.020 -0.950 0.410 T 0.000 0.000 T . . . 0.542 0.146 7.743 0.754 0.107 0.016 0.052 N c -1.016 -0.791 1.000 0.747 0.442 0.072 0 3.15 0.351 0.002 0.129 -0.431 0.058 0.279 0.249 0.011 0.114 6.761 0.226 . . . 0.2314 0.1747 0.4450 0.2096 0.3229 0.1120 0.1730 0.2068 0.2848 0.1770 0.1718 0.3780 0.2033 0.3478 0.1131 0.1663 0.1520 hom 2229.22 72 12 108954862 . G C 2229.22 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8625;MQ=57.74;MQ0=0;QD=30.96;VQSLOD=7.1008;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2262,175,0 12 108985479 108985479 C T exonic TMEM119 synonymous SNV TMEM119:NM_181724:exon2:c.G681A:p.E227E 0.066 0.16 0.022 0.004 0.028 0.074 0.0371 0.1482 0.0165 0.0029 0.0395 0.0176 0.0234 0.0793 0.06 0.14 0.019 0.054 0.025 rs112991728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0337 0.1501 0.0176 0.0122 0.0026 0.0415 0.0168 0.0257 0.0745 0.0567 0.1483 0.0155 0.0033 0.0031 0.0412 0.0183 0.0236 het 1395.07 95 12 108985479 . C T 1395.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DP=95;Dels=0.00;FS=5.519;HRun=1;HaplotypeScore=4.7396;MQ=58.92;MQ0=0;MQRankSum=-1.296;QD=14.68;ReadPosRankSum=-0.079;VQSLOD=3.7155;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,54:95:99:1425,0,1070 12 108985945 108985945 A G exonic TMEM119 nonsynonymous SNV TMEM119:NM_181724:exon2:c.T215C:p.I72T 0.66 0.75 0.45 0.85 0.44 0.68 0.5270 0.7333 0.4111 0.8471 0.4382 0.4480 0.4901 0.6673 0.54 0.72 0.45 0.59 0.52 rs7975237 COSM3765611 1(liver);2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.201 P -1.625 0.004 N 1.1 0.394 T 3.85 0.001 N 0.204 0.250 -0.962 0.389 T 0.000 0.000 T . . . -0.617 0.049 0.114 0.202 0.007 0.019 0.057 N c -1.151 -0.893 1.000 0.747 0.554 0.283 0 4.59 0.561 0.864 0.274 0.125 0.212 0.921 0.317 0.254 0.228 10.659 0.447 . . . 0.5167 0.7387 0.4074 0.4377 0.8509 0.4364 0.4510 0.4745 0.6626 0.5515 0.7314 0.4101 0.45 0.8550 0.4495 0.4530 0.4595 het 1218.44 96 12 108985945 . A G 1218.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.945;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7200;MQ=59.52;MQ0=0;MQRankSum=0.568;QD=12.69;ReadPosRankSum=-0.356;VQSLOD=6.3374;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,46:96:99:1248,0,1376 12 109017264 109017264 T C exonic SELPLG nonsynonymous SNV SELPLG:NM_001206609:exon2:c.A868G:p.M290V,SELPLG:NM_003006:exon2:c.A820G:p.M274V 0.11 0.32 0.037 0.002 0.028 0.082 0.0497 0.2812 0.0220 0.0006 0.0393 0.0174 0.0310 0.0850 0.11 0.28 0.018 0.033 0.033 rs7300972 COSM4985143;COSM4985144 1(soft_tissue) . . . . . . . . . . . 0.017 0.586 D 0.243 0.293 B 0.151 0.326 B 0.040 0.241 N 1 0.090 P 0.14 0.088 N 2.64 0.128 T 0.23 0.046 N 0.04 0.039 -0.930 0.442 T 0.000 0.000 T . . . -0.301 0.068 0.660 0.722 0.096 0.090 0.147 N c -0.658 -0.680 1.000 0.517 0.707 0.730 0 3.49 0.389 0.515 0.223 1.061 0.807 0.237 0.245 0.031 0.148 5.521 0.161 . ENSG00000183160.8 Whole_Blood 0.0440 0.2877 0.0233 0.0084 0.0006 0.0417 0.0171 0.0304 0.0826 0.0935 0.2782 0.0215 0.0033 0.0006 0.0412 0.0185 0.0336 het 1429.95 123 12 109017264 . T C 1429.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.075;DP=123;Dels=0.00;FS=6.103;HRun=0;HaplotypeScore=2.8944;MQ=58.46;MQ0=0;MQRankSum=-0.709;QD=11.63;ReadPosRankSum=0.384;VQSLOD=4.9214;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,55:123:99:1460,0,1953 12 109017266 109017266 G A exonic SELPLG nonsynonymous SNV SELPLG:NM_001206609:exon2:c.C866T:p.S289F,SELPLG:NM_003006:exon2:c.C818T:p.S273F 0.089 0.25 0.027 0.002 0.028 0.073 0.0425 0.2158 0.0182 0.0007 0.0393 0.0173 0.0299 0.0761 0.087 0.22 0.018 . 0.033 rs61729674 . . . . . . . . . . . . . 0.004 0.682 D 0.999 0.764 D 0.967 0.699 D 0.032 0.251 N 1 0.090 P 1.75 0.456 L 1.5 0.312 T -2.21 0.648 N 0.031 0.025 -1.098 0.044 T 0.000 0.000 T . . . 3.487 0.477 23.1 0.995 0.703 0.416 0.265 N c -0.004 -0.217 1.000 0.458 0.707 0.730 0 2.59 0.300 2.847 0.477 1.048 0.713 0.366 0.257 0.037 0.154 6.676 0.221 . ENSG00000183160.8 Whole_Blood 0.0381 0.2192 0.0197 0.0084 0.0007 0.0417 0.0170 0.0270 0.0744 0.0755 0.2149 0.0167 0.0033 0 0.0412 0.0185 0.0285 het 1391.99 123 12 109017266 . G A 1391.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.278;DP=123;Dels=0.00;FS=9.314;HRun=1;HaplotypeScore=1.8997;MQ=58.46;MQ0=0;MQRankSum=1.254;QD=11.32;ReadPosRankSum=0.180;VQSLOD=4.4839;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,54:123:99:1422,0,2006 12 109511256 109511256 T C exonic USP30 synonymous SNV USP30:NM_032663:exon7:c.T639C:p.P213P,USP30:NM_001301175:exon10:c.T546C:p.P182P 0.86 0.76 0.85 0.98 0.83 0.9 0.8377 0.7704 0.9043 0.9761 0.8025 0.8071 0.8469 0.8979 0.79 0.77 0.8 0.84 0.75 rs7967322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8399 0.7671 0.9015 0.8325 0.9781 0.8055 0.8033 0.8176 0.8951 0.8101 0.7682 0.8699 0.8179 0.9840 0.8108 0.8099 0.8401 hom 1541.68 50 12 109511256 . T C 1541.68 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57.41;MQ0=0;QD=30.83;VQSLOD=8.1939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1575,120,0 12 109577735 109577735 C T exonic ACACB synonymous SNV ACACB:NM_001093:exon1:c.C525T:p.S175S 0.4 0.26 0.4 0.26 0.69 0.43 0.5578 0.3010 0.3588 0.2506 0.6657 0.6730 0.6300 0.5066 0.55 0.3 0.67 0.35 0.62 rs2878960 COSM4146527 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5549 0.2951 0.3748 0.6394 0.2566 0.6665 0.6713 0.6096 0.5097 0.5347 0.2944 0.4222 0.6126 0.2581 0.6587 0.6744 0.6217 het 3028.25 199 12 109577735 . C T 3028.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.867;DP=199;DS;Dels=0.00;FS=2.614;HRun=0;HaplotypeScore=2.6105;MQ=59.70;MQ0=0;MQRankSum=0.579;QD=15.22;ReadPosRankSum=0.179;VQSLOD=6.4734;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,107:199:99:3058,0,2257 12 109605730 109605730 C T exonic ACACB synonymous SNV ACACB:NM_001093:exon3:c.C816T:p.A272A 0.23 0.042 0.21 0.51 0.18 0.27 0.2280 0.0710 0.2620 0.5487 0.2261 0.1978 0.2263 0.2579 0.16 0.075 0.2 0.18 0.16 rs4766516 COSM5010214 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2323 0.0685 0.2601 0.2325 0.5465 0.2190 0.1954 0.2079 0.2553 0.1855 0.0723 0.2506 0.2550 0.5685 0.2227 0.1947 0.2197 het 1499.29 150 12 109605730 . C T 1499.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.489;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0806;MQ=59.85;MQ0=0;MQRankSum=0.732;QD=10.00;ReadPosRankSum=-0.402;VQSLOD=5.0806;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,56:150:99:1529,0,2486 12 109617865 109617865 T C exonic ACACB synonymous SNV ACACB:NM_001093:exon10:c.T1791C:p.D597D 0.68 0.52 0.61 0.72 0.85 0.72 0.7715 0.5598 0.6007 0.7259 0.8388 0.8372 0.8227 0.7530 0.74 0.57 0.83 0.62 0.83 rs11065772 COSM4146529 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7705 0.5577 0.6154 0.9029 0.7248 0.8292 0.8323 0.8036 0.7564 0.7444 0.5579 0.6587 0.9067 0.7333 0.8340 0.8309 0.7996 het 1634.38 142 12 109617865 . T C 1634.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.477;DP=142;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=0.9958;MQ=60.00;MQ0=0;MQRankSum=0.316;QD=11.51;ReadPosRankSum=-0.547;VQSLOD=6.5311;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,67:142:99:1664,0,2073 12 109623516 109623516 G A exonic ACACB nonsynonymous SNV ACACB:NM_001093:exon11:c.G1951A:p.A651T 0.16 0.016 0.16 0.26 0.16 0.25 0.1889 0.0388 0.1661 0.2778 0.1727 0.1952 0.1821 0.2344 0.15 0.045 0.2 0.13 0.17 rs2300455 COSM1358579 1(thyroid);2(large_intestine) . . . . . . . . . . . 0.052 0.390 T 1.0 0.899 D 0.999 0.916 D 0.000 0.629 N 0.000 0.588 P 2.06 0.569 M -1.67 0.828 D -2.65 0.567 D 0.206 0.253 -1.256 0.000 T 0.000 0.000 T . . . 4.805 0.645 24.8 0.999 0.930 0.986 0.848 D c 0.453 0.416 1.000 0.480 0.615 0.352 0 4.44 0.530 8.131 0.894 0.138 0.222 1.000 0.715 0.968 0.456 14.252 0.654 ATP-grasp fold\x2c subdomain 2|Biotin carboxylase\x2c C-terminal|Biotin carboxylation domain|Rudiment single hybrid motif ENSG00000076555.11|ENSG00000076555.11|ENSG00000076555.11|ENSG00000076555.11 Cells_Transformed_fibroblasts|Pancreas|Thyroid|Whole_Blood 0.1890 0.0358 0.1660 0.2120 0.2749 0.1674 0.1949 0.1784 0.2306 0.1528 0.0404 0.1706 0.2384 0.2976 0.1759 0.1927 0.1837 het 814.13 66 12 109623516 . G A 814.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.828;DP=66;Dels=0.00;FS=1.028;HRun=0;HaplotypeScore=2.5949;MQ=60.00;MQ0=0;MQRankSum=-1.148;QD=12.34;ReadPosRankSum=1.341;VQSLOD=5.7444;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,34:66:99:844,0,910 12 109675029 109675029 T C exonic ACACB synonymous SNV ACACB:NM_001093:exon33:c.T4506C:p.L1502L 0.78 0.73 0.88 0.72 0.85 0.77 0.8239 0.7288 0.9157 0.7399 0.8420 0.8425 0.8469 0.7797 0.8 0.73 0.84 0.76 0.84 rs2241220 COSM5009849;COSM5009848 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8297 0.7258 0.9072 0.8683 0.7440 0.8424 0.8405 0.8451 0.7815 0.8114 0.7388 0.8914 0.8642 0.7469 0.8231 0.8507 0.8340 hom 7387.54 227 12 109675029 . T C 7387.54 Mask AC=2;AF=1.00;AN=2;DP=227;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.1904;MQ=59.28;MQ0=0;QD=32.54;VQSLOD=9.7201;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:7387,587,0 12 110034320 110034320 G A exonic MVK nonsynonymous SNV MVK:NM_001301182:exon10:c.G973A:p.V325I,MVK:NM_000431:exon11:c.G1129A:p.V377I,MVK:NM_001114185:exon11:c.G1129A:p.V377I . . . . . . 0.0014 0.0003 0.0009 0.0002 0.0012 0.0020 0.0011 0.0010 0.0017 0.0007 0.0022 . 0.016 rs28934897 COSM1239505 1(soft_tissue);1(oesophagus) Pathogenic|Pathogenic|Pathogenic|Pathogenic Hyperimmunoglobulin_D_with_periodic_fever|Hyperimmunoglobulin_D_with_periodic_fever|Mevalonic_aciduria|not_provided RCV000012705.19|RCV000191108.1|RCV000191108.1|RCV000221789.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen C0398691:260920:ORPHA343:234538002|C0398691:260920:ORPHA343:234538002|C1959626:610377:ORPHA29|CN221809 . . . . . . 0.1 0.334 T 0.45 0.342 B 0.132 0.325 B 0.000 0.629 N 1.000 0.530 A 2.035 0.558 M -3.42 0.944 D -0.86 0.234 N 0.753 0.752 0.071 0.836 D 0.580 0.849 D 0.086 0.748 D 2.617 0.376 20.3 0.981 0.376 0.932 0.573 D c -0.413 -0.367 1.000 0.431 0.635 0.413 0 3.17 0.354 5.077 0.640 0.135 0.219 1.000 0.715 0.006 0.095 7.539 0.267 GHMP kinase\x2c C-terminal domain . . 0.0016 0.0004 0.0013 0.0008 0.0001 0.0014 0.0024 0.0013 0.0009 0.0015 0.0005 0.0024 0 0 0.0011 0.0024 0 het 1128.64 86 12 110034320 . G A 1128.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.901;DP=86;Dels=0.00;FS=9.762;HRun=0;HaplotypeScore=3.9855;MQ=59.73;MQ0=0;MQRankSum=1.228;QD=13.12;ReadPosRankSum=1.343;VQSLOD=3.6239;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,49:86:99:1159,0,816 12 110927882 110927882 A G exonic FAM216A synonymous SNV FAM216A:NM_013300:exon7:c.A762G:p.L254L 0.01 0.0038 0.02 . 0.025 0.0082 0.0207 0.0041 0.0187 0 0.0475 0.0261 0.0286 0.0105 0.017 0.0041 0.023 0.054 0.033 rs17851852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0224 0.0035 0.0202 0.0467 5.798e-05 0.0480 0.0249 0.0316 0.0097 0.0169 0.0043 0.0215 0.0497 0 0.0404 0.0197 0.0173 hom 4401.51 125 12 110927882 . A G 4401.51 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=60.00;MQ0=0;MQRankSum=-1.344;QD=35.21;ReadPosRankSum=-0.125;VQSLOD=9.4610;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,124:125:99:4401,337,0 12 111342558 111342558 G T exonic CCDC63 synonymous SNV CCDC63:NM_001286244:exon9:c.G1272T:p.V424V,CCDC63:NM_001286243:exon10:c.G1389T:p.V463V,CCDC63:NM_152591:exon11:c.G1509T:p.V503V 0.15 0.13 0.35 0.002 0.26 0.089 0.2052 0.1547 0.3388 0.0029 0.2731 0.2288 0.2256 0.1250 0.21 0.15 0.25 0.11 0.16 rs34300256 COSM3752902 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2113 0.1536 0.3272 0.1379 0.0030 0.2656 0.2355 0.2318 0.1239 0.2087 0.1588 0.3067 0.1556 0.0037 0.2711 0.2381 0.2526 het 2109.75 168 12 111342558 . G T 2109.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.294;DP=168;Dels=0.00;FS=3.562;HRun=1;HaplotypeScore=12.1177;MQ=59.59;MQ0=0;MQRankSum=1.995;QD=12.56;ReadPosRankSum=-1.126;VQSLOD=2.4606;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,85:168:99:2140,0,2287 12 111353547 111353547 G T exonic MYL2 nonsynonymous SNV MYL2:NM_000432:exon3:c.C141A:p.N47K . . . . . . 0.0002 0.0002 0 0 0 0.0003 0 0 0.0004 . 0.0006 . . rs199474808 . . Likely benign\x2cnot provided|Uncertain significance|Uncertain significance|Uncertain significance|Pathogenic|Uncertain significance not_specified\x2cnot_provided|not_specified|Primary_familial_hypertrophic_cardiomyopathy|Ventricular_extrasystoles|Death_in_infancy|Cardiovascular_phenotype RCV000036382.2\x2cRCV000024457.1|RCV000036381.2|RCV000148715.1|RCV000157368.1|RCV000234981.1|RCV000254541.1 MedGen\x2cMedGen|MedGen|MedGen:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374\x2cCN221809|CN169374|C0949658:ORPHA155:83978005|HP:0006682:C0151636|HP:0001522:C1844947|CN230736 . . . . . . 0.017 0.512 D 0.308 0.310 B 0.392 0.424 B 0.001 0.400 N 1.000 0.810 D 0.215 0.096 N -0.0 0.626 T -0.73 0.206 N 0.139 0.254 -1.045 0.159 T 0.126 0.432 T 0.029 0.514 D 2.709 0.387 20.9 0.988 0.464 0.107 0.159 N c -0.705 -0.733 0.984 0.306 0.581 0.330 0 -5.06 0.027 -0.580 0.059 -0.010 0.132 0.084 0.222 0.950 0.426 6.905 0.233 EF-Hand 1\x2c calcium-binding site|EF-hand domain|EF-hand domain pair . . 0.0002 0.0001 0 0 0 0.0002 0.0003 0 0 0.0004 0.0001 0 0 0 0 0.0007 0 het 2640.71 239 12 111353547 . G T 2640.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.903;DP=239;DS;Dels=0.00;FS=2.903;HRun=2;HaplotypeScore=7.1121;MQ=59.07;MQ0=0;MQRankSum=-1.215;QD=11.05;ReadPosRankSum=-0.790;VQSLOD=2.4905;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,108:239:99:2671,0,3311 12 111786082 111786082 G C exonic CUX2 nonsynonymous SNV CUX2:NM_015267:exon22:c.G4414C:p.V1472L 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.9 rs6490073 COSM4591381 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.1 0.010 N 2.23 0.181 T 2.2 0.003 N 0.232 0.284 -0.967 0.379 T 0.000 0.000 T . . . 0.855 0.176 9.798 0.264 0.013 0.195 0.205 N c -0.871 -0.543 0.043 0.146 0.563 0.310 0 4.25 0.495 2.277 0.428 0.067 0.174 1.000 0.715 0.961 0.442 11.741 0.509 . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 7236.95 222 12 111786082 . G C 7236.95 Mask AC=2;AF=1.00;AN=2;DP=222;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6109;MQ=58.98;MQ0=0;QD=32.60;VQSLOD=7.5621;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:7236,575,0 12 111884608 111884608 T C exonic SH2B3 nonsynonymous SNV SH2B3:NM_001291424:exon2:c.T178C:p.W60R,SH2B3:NM_005475:exon3:c.T784C:p.W262R 0.85 0.98 0.75 1. 0.54 0.93 0.6625 0.9271 0.8031 0.9991 0.6183 0.5145 0.6584 0.9069 0.63 0.91 0.49 0.83 0.49 rs3184504 COSM4985153 15(soft_tissue);1(pancreas) . . . . . Eosinophil counts . -7.6 19198610 rs3184504 7E-19 1.0 0.051 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -2.25 0.001 N -0.83 0.742 T 4.17 0.001 N 0.018 0.024 -0.956 0.399 T 0.000 0.000 T . . . -1.068 0.029 0.012 0.245 0.011 0.077 0.135 N c -1.460 -1.301 1.000 0.747 0.722 0.854 0 2.97 0.333 0.878 0.276 0.069 0.176 0.000 0.063 0.074 0.178 8.173 0.303 PH domain-like;PH domain-like|Pleckstrin homology domain ENSG00000111275.8 Skin_Sun_Exposed_Lower_leg 0.6668 0.9332 0.7894 0.3425 0.9992 0.6032 0.5117 0.6068 0.8983 0.6759 0.9168 0.7566 0.3433 0.9994 0.5937 0.5244 0.6339 het 375.45 38 12 111884608 . T C 375.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.077;DP=38;Dels=0.00;FS=1.301;HRun=0;HaplotypeScore=4.1101;MQ=59.51;MQ0=0;MQRankSum=0.414;QD=9.88;ReadPosRankSum=0.812;VQSLOD=5.9357;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,16:38:99:405,0,550 12 112666502 112666502 C T exonic HECTD4 synonymous SNV HECTD4:NM_001109662:exon42:c.G6231A:p.A2077A . . . . . . 5.799e-05 0 0 0.0001 0 7.495e-05 0 6.059e-05 . . . . . rs771195183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.664e-05 0 0 0 5.807e-05 0 7.176e-05 0 0 3.229e-05 0.0001 0 0 0 0 0 0 het 2303.99 147 12 112666502 . C T 2303.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.815;DP=147;Dels=0.00;FS=2.521;HRun=0;HaplotypeScore=4.6112;MQ=59.56;MQ0=0;MQRankSum=1.083;QD=15.67;ReadPosRankSum=-0.819;VQSLOD=3.6014;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,81:147:99:2334,0,1711 12 113319600 113319600 C T exonic RPH3A synonymous SNV RPH3A:NM_001347955:exon14:c.C1074T:p.N358N,RPH3A:NM_014954:exon14:c.C1263T:p.N421N,RPH3A:NM_001143854:exon15:c.C1275T:p.N425N,RPH3A:NM_001347952:exon15:c.C1275T:p.N425N,RPH3A:NM_001347953:exon15:c.C1275T:p.N425N,RPH3A:NM_001347954:exon15:c.C1275T:p.N425N 0.57 0.71 0.61 0.62 0.43 0.44 0.4489 0.6718 0.5634 0.5898 0.3389 0.3966 0.4502 0.4098 0.5 0.66 0.41 0.63 0.39 rs2240194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4509 0.6717 0.5685 0.4569 0.5844 0.3377 0.3992 0.4399 0.4096 0.4778 0.6571 0.5501 0.4603 0.5793 0.3470 0.3923 0.4316 het 2540.26 242 12 113319600 . C T 2540.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.271;DP=242;DS;Dels=0.00;FS=6.210;HRun=0;HaplotypeScore=3.6444;MQ=59.56;MQ0=0;MQRankSum=1.812;QD=10.50;ReadPosRankSum=1.176;VQSLOD=4.4280;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:142,100:242:99:2570,0,3485 12 113325629 113325629 T C exonic RPH3A synonymous SNV RPH3A:NM_001347955:exon16:c.T1263C:p.F421F,RPH3A:NM_014954:exon16:c.T1452C:p.F484F,RPH3A:NM_001143854:exon17:c.T1464C:p.F488F,RPH3A:NM_001347952:exon17:c.T1464C:p.F488F,RPH3A:NM_001347953:exon17:c.T1464C:p.F488F,RPH3A:NM_001347954:exon17:c.T1464C:p.F488F 0.52 0.54 0.57 0.62 0.42 0.46 0.4269 0.5104 0.5518 0.6017 0.3140 0.3829 0.4306 0.4182 0.43 0.5 0.39 0.58 0.38 rs4141253 COSM3752923 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4329 0.5076 0.5582 0.4541 0.5960 0.3091 0.3859 0.4246 0.4223 0.4233 0.5016 0.5359 0.4536 0.5896 0.3166 0.3787 0.4114 het 2617.68 246 12 113325629 . T C 2617.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.285;DP=246;DS;Dels=0.00;FS=7.504;HRun=0;HaplotypeScore=5.5933;MQ=59.45;MQ0=0;MQRankSum=-0.347;QD=10.64;ReadPosRankSum=-0.858;VQSLOD=4.4684;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:142,104:246:99:2648,0,3900 12 113348870 113348870 G A exonic OAS1 nonsynonymous SNV OAS1:NM_001032409:exon3:c.G484A:p.G162S,OAS1:NM_001320151:exon3:c.G484A:p.G162S,OAS1:NM_002534:exon3:c.G484A:p.G162S,OAS1:NM_016816:exon3:c.G484A:p.G162S 0.47 0.15 0.63 0.59 0.57 0.58 0.5628 0.2286 0.7033 0.6141 0.6280 0.5752 0.5562 0.5720 0.46 0.25 0.57 0.4 0.51 rs1131454 COSM4146651;COSM4146650;COSM4146652 1(pancreas);1(thyroid) other Diabetes_mellitus\x2c_type_1\x2c_susceptibility_to RCV000015022.2 . . . . . . . . 0.343 0.129 T 0.002 0.126 B 0.003 0.139 B 0.000 0.005 N 1 0.090 P 1.125 0.290 L 3.11 0.082 T -1.1 0.285 N 0.036 0.016 -0.949 0.411 T 0.000 0.000 T . . . 0.291 0.122 5.609 0.692 0.086 0.033 0.083 N c -1.449 -1.566 1.000 0.747 0.706 0.609 0 -5.92 0.021 0.022 0.133 -1.023 0.021 0.000 0.063 0.000 0.016 4.839 0.128 . ENSG00000111331.8 Cells_Transformed_fibroblasts 0.5707 0.2175 0.6997 0.3813 0.6200 0.6289 0.5796 0.5437 0.5706 0.5040 0.2305 0.6516 0.4437 0.6348 0.6269 0.6062 0.6093 hom 3467.13 111 12 113348870 . G A 3467.13 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8519;MQ=59.19;MQ0=0;QD=31.24;VQSLOD=9.3669;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3467,265,0 12 113357209 113357209 G A exonic OAS1 nonsynonymous SNV OAS1:NM_016816:exon6:c.G1054A:p.A352T 0.79 0.97 0.8 0.74 0.66 0.71 0.7177 0.9346 0.8318 0.7843 0.7340 0.6591 0.6821 0.6980 0.74 0.92 0.65 0.85 0.6 rs1131476 COSM4146653 1(thyroid) . . . . . . . . . . . 0.508 0.075 T 0.002 0.090 B 0.004 0.093 B . . . 1 0.090 P 0 0.065 N 3.51 0.050 T -0.26 0.112 N 0.029 0.011 -1.047 0.153 T 0.000 0.000 T . . . 0.122 0.105 3.844 0.894 0.182 0.010 0.039 N c -1.331 -1.386 0.705 0.227 0.672 0.522 0 -1.38 0.085 -0.117 0.106 0.902 0.416 0.000 0.063 0.002 0.062 0.543 0.006 . ENSG00000089127.8|ENSG00000111331.8|ENSG00000111335.8|ENSG00000089127.8|ENSG00000089127.8 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.7144 0.9380 0.8275 0.5077 0.7888 0.7372 0.6594 0.6746 0.6923 0.7637 0.9292 0.7895 0.5629 0.7952 0.7341 0.6768 0.7127 hom 6038.46 196 12 113357209 . G A 6038.46 Mask AC=2;AF=1.00;AN=2;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.53;MQ0=0;QD=30.81;VQSLOD=9.5347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,196:196:99:6038,493,0 12 113357237 113357237 G C exonic OAS1 nonsynonymous SNV OAS1:NM_016816:exon6:c.G1082C:p.R361T 0.79 0.97 0.8 0.74 0.65 0.71 0.7156 0.9346 0.8318 0.7841 0.7215 0.6578 0.6806 0.6933 0.74 0.92 0.65 0.84 0.62 rs1051042 COSM4146654 1(thyroid) . . . . . . . . . . . 0.28 0.155 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 3.45 0.053 T -0.16 0.095 N 0.043 0.025 -1.053 0.136 T 0.000 0.000 T . . . -0.538 0.053 0.177 0.492 0.041 0.002 0.011 N c -1.825 -1.901 0.978 0.299 0.672 0.522 0 -4.47 0.033 -2.368 0.011 -2.125 0.004 0.000 0.063 0.000 0.016 1.130 0.016 . ENSG00000089127.8|ENSG00000111331.8|ENSG00000111335.8|ENSG00000089127.8|ENSG00000089127.8 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.7126 0.9380 0.8275 0.5070 0.7887 0.7218 0.6591 0.6731 0.6919 0.7616 0.9291 0.7900 0.5629 0.7939 0.7201 0.6760 0.7094 hom 6214.57 198 12 113357237 . G C 6214.57 Mask AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8118;MQ=59.34;MQ0=0;QD=31.39;VQSLOD=7.8089;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,198:198:99:6213,508,0 12 113376388 113376388 G A exonic OAS3 nonsynonymous SNV OAS3:NM_006187:exon1:c.G53A:p.R18K 0.66 0.55 0.72 0.75 0.63 0.71 0.6862 0.5882 0.8043 0.7882 0.7420 0.6551 0.6679 0.6996 0.62 0.59 0.64 0.67 . rs1859330 COSM3752925 1(thyroid);7(large_intestine) . . . . . . . . . . . 0.062 0.369 T 0.015 0.307 B 0.005 0.263 B . . . 1 0.090 P 1.01 0.254 L 3.12 0.081 T -0.1 0.168 N 0.035 0.055 -1.077 0.080 T 0.000 0.000 T . . . -0.081 0.086 1.873 0.880 0.171 0.274 0.230 N c -1.119 -1.233 1.000 0.747 0.443 0.080 1 -1.2 0.090 -0.564 0.060 -0.611 0.043 0.000 0.063 0.000 0.016 3.296 0.065 2-5-oligoadenylate synthetase\x2c N-terminal ENSG00000111331.8|ENSG00000111335.8|ENSG00000089127.8|ENSG00000089127.8 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Whole_Blood 0.6827 0.5730 0.7947 0.5029 0.7899 0.7371 0.6490 0.6468 0.6938 0.6547 0.5716 0.7470 0.5596 0.7947 0.7345 0.6637 0.6912 hom 956.63 36 12 113376388 . G A 956.63 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;QD=26.57;VQSLOD=6.4680;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:36:72.24:990,72,0 12 113376452 113376452 C T exonic OAS3 synonymous SNV OAS3:NM_006187:exon1:c.C117T:p.A39A 0.79 0.99 0.77 0.75 0.64 0.72 0.7253 0.9409 0.8301 0.7902 0.7506 0.6702 0.7057 0.7070 0.74 0.93 0.65 0.8 . rs1859329 COSM3752926 6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7083 0.9442 0.8164 0.5042 0.7892 0.7367 0.6487 0.6662 0.6937 0.7600 0.9339 0.7811 0.5533 0.7940 0.7352 0.6671 0.7106 hom 396.72 14 12 113376452 . C T 396.72 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8252;MQ=54.85;MQ0=0;QD=28.34;VQSLOD=3.1420;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:14:36.11:430,36,0 12 113386950 113386950 T C exonic OAS3 synonymous SNV OAS3:NM_006187:exon6:c.T1314C:p.I438I 0.84 0.99 0.8 0.91 0.67 0.78 0.7580 0.9481 0.8408 0.9174 0.7992 0.6923 0.7333 0.7539 0.77 0.94 0.68 0.88 . rs2285932 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7561 0.9507 0.8346 0.5583 0.9203 0.8020 0.6910 0.7060 0.7522 0.7977 0.9434 0.8019 0.6126 0.9182 0.7946 0.7072 0.75 hom 4345.72 144 12 113386950 . T C 4345.72 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5869;MQ=59.42;MQ0=0;QD=30.18;VQSLOD=8.3840;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4345,364,0 12 113398919 113398919 G A exonic OAS3 synonymous SNV OAS3:NM_006187:exon8:c.G1701A:p.S567S 0.32 0.086 0.28 0.66 0.23 0.38 0.3068 0.1155 0.4105 0.6658 0.3769 0.2438 0.2954 0.3809 0.19 0.11 0.23 0.21 . rs2072136 COSM3752927 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3064 0.1070 0.3882 0.1544 0.6688 0.3742 0.2371 0.2645 0.3714 0.2641 0.1092 0.3270 0.1656 0.6669 0.3808 0.2759 0.3528 hom 1724.02 56 12 113398919 . G A 1724.02 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=30.79;VQSLOD=8.8053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1757,135,0 12 113403675 113403675 C T exonic OAS3 stopgain OAS3:NM_006187:exon12:c.C2530T:p.R844X 0.0052 0.0015 0.0058 . 0.011 0.0092 0.0113 0.0030 0.0034 0 0.0180 0.0161 0.0138 0.0049 0.013 0.0045 0.017 0.011 . rs61942233 COSM1561826 1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.492 0.120 U 1 0.810 A . . . . . . . . . . . . . . . . . . . . 11.982 0.979 38 0.997 0.823 0.109 0.161 N c 0.251 -0.008 0.998 0.356 0.707 0.730 0 3.16 0.353 -0.272 0.085 0.852 0.362 0.000 0.063 0.648 0.298 9.736 0.394 2-5-oligoadenylate synthetase\x2c N-terminal|Polymerase\x2c nucleotidyl transferase domain ENSG00000111331.8 Esophagus_Mucosa 0.0111 0.0026 0.0044 0.0171 5.815e-05 0.0167 0.0159 0.0101 0.0053 0.0113 0.0023 0.0048 0.0232 0 0.0163 0.0165 0.0143 het 630.36 38 12 113403675 . C T 630.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.548;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=-1.334;QD=16.59;ReadPosRankSum=-0.261;VQSLOD=5.1914;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:660,0,384 12 113425154 113425154 C G exonic OAS2 nonsynonymous SNV OAS2:NM_001032731:exon2:c.C489G:p.S163R 0.85 0.99 0.8 0.91 0.68 0.83 0.7738 0.9487 0.8493 0.9202 0.8060 0.7044 0.7410 0.8054 0.77 0.94 0.68 0.87 0.43 rs1293767 . . . . . . . . . . . . . 0.434 0.094 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 2.8 0.111 T -0.68 0.195 N 0.065 0.051 -1.055 0.130 T 0.000 0.000 T . . . -0.076 0.087 1.914 0.441 0.033 0.001 0.004 N c -1.242 -1.330 0.991 0.321 0.722 0.854 0 0.025 0.134 0.193 0.168 0.035 0.151 0.007 0.175 0.001 0.043 3.352 0.067 -5'-oligoadenylate synthetase 1\x2c domain 2/C-terminal;-oligoadenylate synthetase 1\x2c domain 2/C-terminal|2'2&apos ENSG00000111331.8 Cells_Transformed_fibroblasts 0.7638 0.9513 0.8366 0.5841 0.9221 0.8030 0.6924 0.7095 0.7952 0.7997 0.9438 0.8103 0.6490 0.9201 0.7961 0.7093 0.7510 hom 1019.38 31 12 113425154 . C G 1019.38 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.88;VQSLOD=13.5282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:81.26:1052,81,0 12 113435450 113435450 A T exonic OAS2 synonymous SNV OAS2:NM_002535:exon4:c.A753T:p.V251V,OAS2:NM_016817:exon4:c.A753T:p.V251V 0.88 0.99 0.8 1. 0.68 0.86 0.7789 0.9487 0.8480 0.9993 0.7988 0.6982 0.7583 0.8271 0.77 0.94 0.69 0.87 0.63 rs1293755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7758 0.9520 0.8425 0.6047 0.9994 0.8003 0.6957 0.7229 0.8263 0.8103 0.9417 0.8103 0.6556 1 0.7916 0.7238 0.7648 hom 2381.61 85 12 113435450 . A T 2381.61 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.080;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9952;MQ=59.73;MQ0=0;MQRankSum=1.080;QD=28.02;ReadPosRankSum=0.509;VQSLOD=7.3745;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,84:85:99:2415,166,0 12 113448288 113448288 A G exonic OAS2 stoploss OAS2:NM_016817:exon11:c.A2159G:p.X720W 0.86 0.99 0.78 1. 0.64 0.85 0.7536 0.9424 0.8371 0.9970 0.7843 0.6621 0.7357 0.8072 0.75 0.93 0.66 0.85 0.52 rs15895 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . 0.319 0.125 5.872 0.719 0.095 0.093 0.149 N c 0.113 -0.292 0.020 0.133 0.295 0.044 0 0.85 0.180 0.032 0.135 -0.243 0.092 0.010 0.182 0.052 0.166 3.300 0.065 . ENSG00000111331.8 Cells_Transformed_fibroblasts 0.7502 0.9464 0.8298 0.5557 0.9973 0.7850 0.6585 0.7019 0.8059 0.7850 0.9338 0.7919 0.5927 0.9981 0.7745 0.6853 0.7238 hom 4797.15 137 12 113448288 . A G 4797.15 Mask AC=2;AF=1.00;AN=2;DP=137;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.66;MQ0=0;QD=35.02;VQSLOD=9.5925;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4797,379,0 12 113532617 113532617 A G exonic DTX1 synonymous SNV DTX1:NM_004416:exon6:c.A1251G:p.R417R 0.065 0.04 0.088 . 0.15 0.058 0.1144 0.0610 0.0757 0.0004 0.1429 0.1512 0.1270 0.0755 0.12 0.061 0.15 0.065 0.082 rs12427377 COSM430387 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1150 0.0550 0.0787 0.1665 0.0003 0.1376 0.1528 0.1437 0.0753 0.1090 0.0544 0.0811 0.1623 0.0012 0.1426 0.1440 0.1278 het 1059.61 85 12 113532617 . A G 1059.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.352;DP=85;Dels=0.00;FS=0.859;HRun=1;HaplotypeScore=1.6553;MQ=58.63;MQ0=0;MQRankSum=1.590;QD=12.47;ReadPosRankSum=-0.570;VQSLOD=6.1673;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,44:85:99:1090,0,986 12 113532885 113532885 C T exonic DTX1 synonymous SNV DTX1:NM_004416:exon7:c.C1425T:p.Y475Y 0.057 0.011 0.085 0.001 0.15 0.058 0.1106 0.0310 0.0745 0.0003 0.1383 0.1494 0.1239 0.0755 0.11 0.036 0.15 0.022 0.057 rs12426056 COSM3752931 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1132 0.0270 0.0778 0.1657 0.0003 0.1378 0.1526 0.1427 0.0754 0.1013 0.0271 0.0801 0.1623 0.0012 0.1424 0.1437 0.1286 het 997.62 75 12 113532885 . C T 997.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.599;DP=75;Dels=0.00;FS=0.974;HRun=0;HaplotypeScore=1.8934;MQ=60.00;MQ0=0;MQRankSum=-1.288;QD=13.30;ReadPosRankSum=1.087;VQSLOD=5.9326;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,36:75:99:1028,0,1206 12 113537773 113537773 C T exonic RASAL1 synonymous SNV RASAL1:NM_001193521:exon21:c.G2292A:p.Q764Q,RASAL1:NM_001301202:exon21:c.G2379A:p.Q793Q,RASAL1:NM_001193520:exon22:c.G2382A:p.Q794Q,RASAL1:NM_004658:exon22:c.G2376A:p.Q792Q 0.062 0.031 0.086 . 0.15 0.058 0.1130 0.0489 0.0751 0.0003 0.1417 0.1506 0.1208 0.0754 0.12 0.053 0.15 0.065 0.074 rs12422659 COSM3752932 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1143 0.0433 0.0781 0.1662 0.0003 0.1374 0.1529 0.1429 0.0753 0.1060 0.0437 0.0800 0.1623 0.0012 0.1420 0.1442 0.1283 het 532.45 45 12 113537773 . C T 532.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.081;DP=45;Dels=0.00;FS=4.534;HRun=1;HaplotypeScore=0.0000;MQ=58.18;MQ0=0;MQRankSum=-0.262;QD=11.83;ReadPosRankSum=-0.307;VQSLOD=5.2021;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:562,0,638 12 113553481 113553481 C T exonic RASAL1 nonsynonymous SNV RASAL1:NM_001193521:exon10:c.G962A:p.R321H,RASAL1:NM_001301202:exon10:c.G962A:p.R321H,RASAL1:NM_001193520:exon11:c.G962A:p.R321H,RASAL1:NM_004658:exon11:c.G962A:p.R321H 0.78 0.75 0.86 0.79 0.77 0.76 0.7747 0.7598 0.8438 0.7854 0.7654 0.7701 0.7867 0.7517 0.77 0.75 0.77 0.76 0.76 rs1284879 . . . . . . . . . . . . . 0.068 0.524 T 0.75 0.444 P 0.179 0.404 B 0.000 0.537 D 0.988 0.244 P 0 0.065 N 2.3 0.170 T 0.13 0.055 N 0.077 0.199 -1.140 0.014 T 0.000 0.000 T . . . 3.904 0.526 23.5 0.988 0.455 0.799 0.394 D c -0.715 -0.606 0.543 0.213 0.615 0.372 0 2.6 0.300 3.751 0.546 -0.352 0.070 1.000 0.715 0.776 0.329 11.284 0.483 Ras GTPase-activating protein|Rho GTPase activation protein ENSG00000111344.7 Skin_Sun_Exposed_Lower_leg 0.7756 0.7619 0.8446 0.6721 0.7832 0.7647 0.7736 0.7538 0.7548 0.7711 0.7640 0.8389 0.6755 0.7905 0.7585 0.7739 0.7776 het 496.45 44 12 113553481 . C T 496.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.758;DP=44;Dels=0.00;FS=19.099;HRun=0;HaplotypeScore=3.5968;MQ=60.00;MQ0=0;MQRankSum=2.204;QD=11.28;ReadPosRankSum=-0.071;VQSLOD=2.3956;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,19:44:99:526,0,672 12 113554946 113554946 G A exonic RASAL1 synonymous SNV RASAL1:NM_001193521:exon8:c.C663T:p.T221T,RASAL1:NM_001301202:exon8:c.C663T:p.T221T,RASAL1:NM_001193520:exon9:c.C663T:p.T221T,RASAL1:NM_004658:exon9:c.C663T:p.T221T 0.055 0.0083 0.085 . 0.15 0.056 0.1112 0.0287 0.0744 0.0003 0.1399 0.1504 0.1213 0.0768 0.11 0.034 0.15 0.054 0.049 rs34456143 COSM3752933 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1128 0.0247 0.0762 0.1631 0.0003 0.1378 0.1522 0.1436 0.0742 0.1016 0.0258 0.0800 0.1623 0.0012 0.1424 0.1455 0.1268 het 311.24 42 12 113554946 . G A 311.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.472;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=2.126;QD=7.41;ReadPosRankSum=-1.339;VQSLOD=5.2772;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,15:42:99:341,0,748 12 113825679 113825679 C T exonic PLBD2 nonsynonymous SNV PLBD2:NM_001159727:exon10:c.C1474T:p.R492C,PLBD2:NM_173542:exon11:c.C1570T:p.R524C 0.069 0.047 0.084 0.001 0.13 0.091 0.1095 0.0627 0.0638 0.0002 0.1311 0.1388 0.1090 0.1011 0.12 0.074 0.15 0.11 0.13 rs12425042 COSM3752938 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.172 0.234 T 0.995 0.657 D 0.711 0.588 P 0.294 0.147 N 0.957 0.311 P 1.355 0.339 L 2.12 0.197 T -3.2 0.647 D 0.063 0.141 -1.092 0.052 T 0.001 0.002 T . . . 3.130 0.436 22.6 0.997 0.824 0.297 0.237 N c -0.218 -0.369 0.000 0.065 0.706 0.609 0 2.01 0.254 0.016 0.132 -0.914 0.026 0.003 0.159 0.044 0.160 8.280 0.309 . ENSG00000151176.3|ENSG00000151176.3|ENSG00000151176.3|ENSG00000151176.3|ENSG00000151176.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.1098 0.0597 0.0675 0.1477 0.0003 0.1338 0.1392 0.1227 0.1036 0.1040 0.0629 0.0776 0.1325 0.0006 0.1314 0.1341 0.0967 het 4045.55 229 12 113825679 . C T 4045.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.063;DP=229;DS;Dels=0.00;FS=1.228;HRun=0;HaplotypeScore=6.5659;MQ=59.42;MQ0=0;MQRankSum=0.673;QD=17.67;ReadPosRankSum=-1.486;VQSLOD=3.9404;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,117:229:99:3397,0,2917 12 114282496 114282496 C T exonic RBM19 nonsynonymous SNV RBM19:NM_001146698:exon23:c.G2762A:p.R921Q,RBM19:NM_001146699:exon23:c.G2762A:p.R921Q,RBM19:NM_016196:exon23:c.G2762A:p.R921Q 0.22 0.18 0.2 0.13 0.3 0.29 0.2493 0.1759 0.1731 0.1320 0.3331 0.2714 0.2663 0.2902 0.24 0.18 0.27 0.21 0.17 rs2075387 COSM4146665 10(soft_tissue);1(thyroid) . . . . . . . . . . . 0.011 0.555 D 0.997 0.689 D 0.86 0.594 P 0.000 0.843 D 0.000 0.588 P 2.045 0.562 M 3.47 0.052 T -2.05 0.470 N 0.294 0.703 -0.939 0.428 T 0.000 0.000 T . . . 5.337 0.722 25.8 0.999 0.990 0.965 0.693 D c 0.507 0.454 1.000 0.747 0.719 0.830 0 5.11 0.691 4.725 0.614 0.935 0.490 1.000 0.715 0.993 0.574 18.155 0.896 . ENSG00000122965.6|ENSG00000122965.6|ENSG00000122965.6|ENSG00000122965.6|ENSG00000122965.6|ENSG00000122965.6|ENSG00000257359.1 Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Stomach|Thyroid|Thyroid 0.2458 0.1703 0.1757 0.2909 0.1272 0.3217 0.2653 0.2709 0.2854 0.2537 0.1767 0.2160 0.2947 0.1352 0.3371 0.2923 0.2668 hom 928.13 28 12 114282496 . C T 928.13 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.15;VQSLOD=14.0845;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:75.24:961,75,0 12 114377885 114377885 G C exonic RBM19 synonymous SNV RBM19:NM_001146698:exon15:c.C1818G:p.T606T,RBM19:NM_001146699:exon15:c.C1818G:p.T606T,RBM19:NM_016196:exon15:c.C1818G:p.T606T 0.22 0.069 0.26 0.18 0.32 0.34 0.2861 0.1013 0.2616 0.1658 0.2031 0.3273 0.3095 0.3476 0.25 0.11 0.33 0.18 0.29 rs2290790 COSM3752942 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2846 0.0969 0.2648 0.3665 0.1739 0.1927 0.3261 0.3050 0.3486 0.2285 0.0985 0.2608 0.3841 0.1457 0.1866 0.3166 0.2505 hom 5885.95 187 12 114377885 . G C 5885.95 Mask AC=2;AF=1.00;AN=2;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8328;MQ=59.45;MQ0=0;QD=31.48;VQSLOD=6.6055;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:187:99:5885,487,0 12 114377899 114377899 G C exonic RBM19 nonsynonymous SNV RBM19:NM_001146698:exon15:c.C1804G:p.Q602E,RBM19:NM_001146699:exon15:c.C1804G:p.Q602E,RBM19:NM_016196:exon15:c.C1804G:p.Q602E 1. 0.98 1. 1. 1. 1. 0.9984 0.9824 0.9995 1 1 0.9999 0.9989 1 0.99 0.98 1. 0.97 0.95 rs7299217 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.186 P -1.85 0.003 N 3.17 0.076 T 2.24 0.003 N 0.05 0.147 -0.939 0.427 T 0.000 0.000 T . . . -0.620 0.049 0.111 0.585 0.059 0.160 0.190 N c -0.960 -0.766 0.994 0.334 0.707 0.730 0 3.36 0.374 5.507 0.665 0.014 0.141 1.000 0.715 0.045 0.161 14.153 0.648 Nucleotide-binding alpha-beta plait domain|RNA recognition motif domain . . 0.9987 0.9814 0.9992 1 1 1 0.9999 0.9989 1 0.9943 0.9806 0.9976 1 1 1 0.9999 0.9980 hom 6441.37 211 12 114377899 . G C 6441.37 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3264;MQ=59.34;MQ0=0;QD=30.53;VQSLOD=5.5070;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6440,530,0 12 116457069 116457069 C T exonic MED13L nonsynonymous SNV MED13L:NM_015335:exon7:c.G969A:p.M323I 0.0002 . . . 0.001 . 7.434e-05 9.619e-05 0 0 0 0.0001 0 0 0.0002 0.0005 . . . rs141207031 . . . . . . . . . . . . . 0.07 0.353 T 0.004 0.112 B 0.008 0.127 B 0.000 0.629 D 0.999 0.468 D 1.355 0.339 L -0.97 0.757 T -0.05 0.078 N 0.335 0.396 -0.732 0.589 T 0.258 0.629 T 0.015 0.351 T 3.151 0.438 22.6 0.987 0.442 0.947 0.617 D c -0.159 0.012 1.000 0.747 0.706 0.609 0 4.28 0.500 2.823 0.475 0.892 0.403 1.000 0.715 1.000 0.888 13.663 0.617 Mediator complex\x2c subunit Med13\x2c N-terminal\x2c metazoa/fungi . . 0.0001 0 0 0 0 0 0.0003 0 0 0.0003 0 0 0 0 0 0.0006 0 het 1594.72 126 12 116457069 . C T 1594.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.893;DP=126;Dels=0.00;FS=2.676;HRun=0;HaplotypeScore=6.8552;MQ=59.14;MQ0=0;MQRankSum=1.108;QD=12.66;ReadPosRankSum=0.238;VQSLOD=3.2592;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:60,64:126:99:1625,0,1603 12 117217141 117217141 T C exonic RNFT2 synonymous SNV RNFT2:NM_001109903:exon7:c.T870C:p.A290A,RNFT2:NM_032814:exon7:c.T870C:p.A290A 0.87 0.79 0.92 0.95 0.88 0.85 0.8834 0.7992 0.9455 0.9475 0.9123 0.8857 0.8918 0.8379 0.86 0.8 0.89 0.86 . rs4767452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8879 0.7965 0.9413 0.8859 0.9482 0.9150 0.8847 0.8864 0.8340 0.8707 0.7969 0.9077 0.8775 0.9493 0.9242 0.8890 0.8921 hom 3627.27 122 12 117217141 . T C 3627.27 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.73;VQSLOD=13.2751;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3626,322,0 12 117383320 117383320 G A exonic FBXW8 nonsynonymous SNV FBXW8:NM_012174:exon3:c.G377A:p.R126Q,FBXW8:NM_153348:exon3:c.G575A:p.R192Q 0.64 0.23 0.84 0.73 0.82 0.78 0.7886 0.3064 0.8810 0.7432 0.8554 0.8466 0.8330 0.7880 0.67 0.31 0.85 0.5 0.86 rs4076700 COSM4415423 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.069 0.355 T 0.971 0.899 D 0.457 0.722 P 0.000 0.523 D 0.009 0.424 P . . . 1.82 0.250 T -1.28 0.322 N 0.58 0.610 -1.116 0.026 T 0.000 0.000 T . . . 3.926 0.529 23.5 0.999 0.999 0.966 0.696 D c 0.543 0.560 0.108 0.166 0.707 0.730 0 5.19 0.713 4.689 0.612 1.048 0.713 1.000 0.715 0.996 0.625 13.006 0.579 F-box domain ENSG00000257279.1|ENSG00000174989.8|ENSG00000174989.8|ENSG00000174989.8|ENSG00000174989.8|ENSG00000174989.8|ENSG00000174989.8 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.7999 0.2951 0.8772 0.7890 0.7420 0.8538 0.8477 0.8145 0.7880 0.6904 0.3036 0.8258 0.79 0.7509 0.8626 0.8499 0.8337 hom 2967.83 92 12 117383320 . G A 2967.83 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8216;MQ=59.04;MQ0=0;QD=32.26;VQSLOD=9.6437;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3001,235,0 12 117465857 117465857 T C exonic FBXW8 synonymous SNV FBXW8:NM_012174:exon11:c.T1479C:p.Y493Y,FBXW8:NM_153348:exon11:c.T1677C:p.Y559Y 0.95 0.99 0.91 1. 0.85 0.95 0.8880 0.9741 0.9459 0.9957 0.8177 0.8430 0.8722 0.9475 0.89 0.97 0.84 0.97 0.84 rs4529958 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8867 0.9765 0.936 0.8889 0.9950 0.8164 0.8406 0.8763 0.9461 0.8888 0.9728 0.9236 0.8709 0.9938 0.8114 0.8467 0.8633 hom 2377.43 80 12 117465857 . T C 2377.43 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5439;MQ=57.93;MQ0=0;QD=29.72;VQSLOD=8.1835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2410,193,0 12 117669914 117669914 G A exonic NOS1 synonymous SNV NOS1:NM_001204213:exon21:c.C2250T:p.D750D,NOS1:NM_001204214:exon21:c.C2250T:p.D750D,NOS1:NM_000620:exon22:c.C3258T:p.D1086D,NOS1:NM_001204218:exon23:c.C3360T:p.D1120D 0.26 0.28 0.21 0.33 0.21 0.23 0.2211 0.2604 0.1623 0.3216 0.1689 0.2108 0.2133 0.2480 0.22 0.24 0.2 0.3 0.19 rs3741475 COSM1359113 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2198 0.2629 0.1742 0.2746 0.3295 0.1637 0.2079 0.2357 0.2496 0.2209 0.2581 0.1942 0.2649 0.3308 0.1572 0.2042 0.2031 het 806.40 65 12 117669914 . G A 806.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.110;DP=65;Dels=0.00;FS=0.979;HRun=0;HaplotypeScore=1.9965;MQ=60.00;MQ0=0;MQRankSum=0.059;QD=12.41;ReadPosRankSum=2.121;VQSLOD=5.8391;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,34:65:99:836,0,809 12 117685270 117685270 G A exonic NOS1 synonymous SNV NOS1:NM_001204213:exon17:c.C1698T:p.H566H,NOS1:NM_001204214:exon17:c.C1698T:p.H566H,NOS1:NM_000620:exon18:c.C2706T:p.H902H,NOS1:NM_001204218:exon19:c.C2808T:p.H936H 0.35 0.2 0.52 0.5 0.32 0.29 0.3365 0.1917 0.6075 0.4794 0.2487 0.3070 0.3167 0.3134 0.26 0.18 0.3 0.34 0.24 rs1047735 COSM3752946 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3488 0.1928 0.6024 0.3319 0.4934 0.2474 0.3049 0.3483 0.3126 0.2837 0.1911 0.5358 0.3188 0.4907 0.2348 0.3094 0.3214 het 1326.58 108 12 117685270 . G A 1326.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.506;DP=108;Dels=0.00;FS=13.985;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.627;QD=12.28;ReadPosRankSum=-0.320;VQSLOD=4.2561;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,53:108:99:1357,0,1588 12 117693817 117693817 G A exonic NOS1 nonsynonymous SNV NOS1:NM_001204218:exon17:c.C2557T:p.P853S 0.35 0.2 0.52 0.5 0.32 0.29 0.3457 0.2027 0.6106 0.4800 0.2486 0.3095 0.3189 0.3388 0.28 0.19 0.31 0.34 . rs11068428 COSN15322835 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.526 0.071 T . . . . . . . . . 0.815 0.810 P . . . 5.08 0.013 T -0.79 0.219 N 0.165 0.199 -1.087 0.061 T 0.000 0.000 T . . . 3.411 0.468 23.0 0.990 0.492 0.800 0.395 D c 0.073 0.216 0.162 0.176 0.487 0.133 0 5.05 0.674 3.021 0.491 1.048 0.713 1.000 0.715 1.000 0.888 11.083 0.471 Flavodoxin/nitric oxide synthase|Flavoprotein-like domain . . 0.3260 0.1982 0.6118 0.3297 0.4774 0.2463 0.3057 0.3317 0.3137 0.2858 0.1981 0.5359 0.3212 0.4875 0.2348 0.3100 0.3238 het 1015.45 114 12 117693817 . G A 1015.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.007;DP=114;Dels=0.00;FS=1.639;HRun=3;HaplotypeScore=2.6878;MQ=58.77;MQ0=0;MQRankSum=1.084;QD=8.91;ReadPosRankSum=-0.449;VQSLOD=6.1989;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,42:114:99:1045,0,1783 12 117701714 117701714 A G exonic NOS1 synonymous SNV NOS1:NM_001204213:exon12:c.T1194C:p.I398I,NOS1:NM_001204214:exon12:c.T1194C:p.I398I,NOS1:NM_000620:exon13:c.T2202C:p.I734I,NOS1:NM_001204218:exon13:c.T2202C:p.I734I 0.75 0.9 0.53 0.76 0.69 0.74 0.7060 0.8851 0.4113 0.7729 0.7071 0.7159 0.7156 0.7298 0.77 0.89 0.71 0.55 0.77 rs2293054 COSM4146690 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6891 0.8882 0.4170 0.7696 0.7638 0.6991 0.7117 0.7007 0.7282 0.7610 0.8862 0.4881 0.7583 0.7744 0.7123 0.7163 0.7169 hom 5776.86 205 12 117701714 . A G 5776.86 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9772;MQ=59.06;MQ0=0;QD=28.18;VQSLOD=8.3871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,203:205:99:5738,469,0 12 117993064 117993064 C T exonic KSR2 synonymous SNV KSR2:NM_173598:exon9:c.G1341A:p.P447P 0.25 0.28 0.2 0.16 0.27 0.33 0.2544 0.2914 0.1618 0.1414 0.2530 0.2657 0.2230 0.3120 0.26 0.26 0.26 0.25 . rs7955803 COSM3752948;COSM4419081;COSM3752947 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2457 0.2915 0.1625 0.1711 0.1398 0.2542 0.2698 0.2236 0.3069 0.2637 0.2915 0.1695 0.1689 0.1551 0.2534 0.2713 0.2265 het 892.37 62 12 117993064 . C T 892.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.186;DP=62;Dels=0.00;FS=5.141;HRun=0;HaplotypeScore=3.0954;MQ=58.88;MQ0=0;MQRankSum=1.335;QD=14.39;ReadPosRankSum=-0.681;VQSLOD=5.2801;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,35:62:99:922,0,634 12 118020115 118020115 G A exonic KSR2 synonymous SNV KSR2:NM_173598:exon6:c.C1134T:p.L378L 0.4 0.12 0.46 0.55 0.47 0.51 0.4656 0.1602 0.4935 0.5341 0.4995 0.4804 0.4789 0.5177 0.37 0.16 0.48 0.35 . rs11068551 COSM4783712;COSM3752949 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4679 0.1498 0.4867 0.3879 0.5351 0.4962 0.4842 0.4541 0.5165 0.3974 0.1663 0.4785 0.3940 0.5389 0.4862 0.4850 0.4980 het 1939.88 162 12 118020115 . G A 1939.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.975;DP=162;Dels=0.00;FS=6.076;HRun=1;HaplotypeScore=2.8934;MQ=59.72;MQ0=0;MQRankSum=0.035;QD=11.97;ReadPosRankSum=0.545;VQSLOD=5.2643;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,78:162:99:1970,0,2154 12 118199286 118199286 C G exonic KSR2 synonymous SNV KSR2:NM_173598:exon4:c.G429C:p.T143T 0.94 0.99 0.93 0.95 0.88 0.94 0.8985 0.9787 0.9417 0.9476 0.8269 0.8706 0.8971 0.9359 0.9 0.97 0.87 0.96 . rs617641 COSM4146691 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8980 0.9786 0.9370 0.9461 0.9484 0.8345 0.8652 0.8939 0.9360 0.9048 0.9756 0.9296 0.9533 0.9549 0.8274 0.8761 0.8719 hom 7641.41 241 12 118199286 . C G 7641.41 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=241;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2574;MQ=58.29;MQ0=0;MQRankSum=-1.198;QD=31.71;ReadPosRankSum=0.274;VQSLOD=6.8507;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,240:241:99:7641,584,0 12 118506186 118506186 A T exonic VSIG10 synonymous SNV VSIG10:NM_019086:exon8:c.T1563A:p.L521L 0.42 0.45 0.46 0.37 0.4 0.42 0.4160 0.4435 0.5384 0.3913 0.3710 0.4007 0.4076 0.4072 0.4 0.43 0.38 0.43 . rs67405503 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4173 0.4433 0.5228 0.3903 0.3865 0.3798 0.4001 0.4051 0.4075 0.4123 0.4388 0.4903 0.37 0.3733 0.3829 0.4063 0.3823 hom 6015.73 206 12 118506186 . A T 6015.73 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5985;MQ=58.94;MQ0=0;QD=29.20;VQSLOD=7.4082;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6015,484,0 12 118509191 118509191 G A exonic VSIG10 nonsynonymous SNV VSIG10:NM_019086:exon6:c.C1303T:p.H435Y 0.54 0.73 0.51 0.78 0.28 0.33 0.3774 0.6994 0.5187 0.7668 0.2797 0.2879 0.3263 0.2873 0.4 0.65 0.29 0.56 . rs7307331 COSM3752951 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.381 N 1.000 0.208 P -2.42 0.001 N 0.84 0.475 T 1.1 0.012 N 0.06 0.044 -0.956 0.400 T 0.000 0.000 T . . . 0.306 0.123 5.747 0.323 0.019 0.014 0.047 N c -0.994 -0.700 0.959 0.283 0.732 0.924 0 5.15 0.702 3.949 0.561 0.166 0.246 1.000 0.715 0.366 0.249 11.262 0.481 . . . 0.3764 0.7036 0.5053 0.2258 0.7709 0.2853 0.2903 0.3291 0.2860 0.4318 0.6936 0.4592 0.2318 0.7899 0.2880 0.2851 0.3160 het 2219.47 181 12 118509191 . G A 2219.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.958;DP=181;Dels=0.00;FS=1.996;HRun=0;HaplotypeScore=3.4597;MQ=57.48;MQ0=0;MQRankSum=3.197;QD=12.26;ReadPosRankSum=0.348;VQSLOD=3.6208;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,92:181:99:2249,0,2429 12 118682751 118682751 C T exonic TAOK3 nonsynonymous SNV TAOK3:NM_001346487:exon4:c.G140A:p.S47N,TAOK3:NM_001346489:exon4:c.G140A:p.S47N,TAOK3:NM_016281:exon4:c.G140A:p.S47N,TAOK3:NM_001346488:exon5:c.G140A:p.S47N 0.73 0.75 0.76 0.71 0.68 0.76 0.7142 0.7485 0.7703 0.7238 0.7043 0.6922 0.7031 0.7415 0.71 0.75 0.69 0.75 0.71 rs428073 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.995 0.233 P -0.29 0.037 N 1.93 0.402 T 1.97 0.010 N 0.058 0.138 -0.961 0.389 T 0.000 0.000 T . . . 1.250 0.215 12.01 0.709 0.091 0.098 0.153 N c -0.688 -0.452 0.077 0.158 0.706 0.609 0 5.14 0.699 2.884 0.480 0.117 0.209 1.000 0.715 0.992 0.562 11.074 0.470 Protein kinase domain|Protein kinase\x2c ATP binding site|Protein kinase-like domain;Protein kinase domain|Protein kinase\x2c ATP binding site|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain . . 0.7158 0.7496 0.7697 0.7036 0.7262 0.7022 0.6903 0.7052 0.7427 0.7249 0.7529 0.7601 0.7384 0.7617 0.6962 0.7086 0.7316 hom 6083.16 201 12 118682751 . C T 6083.16 Mask AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0210;MQ=59.04;MQ0=0;QD=30.26;VQSLOD=8.2797;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,201:201:99:6082,472,0 12 119588962 119588962 G A exonic SRRM4 nonsynonymous SNV SRRM4:NM_194286:exon10:c.G1217A:p.R406Q 0.25 0.16 0.38 0.15 0.4 0.2 0.3311 0.1904 0.3061 0.1307 0.4233 0.3992 0.3725 0.2222 0.32 0.18 0.39 0.27 . rs2723880 COSM3752955;COSM3752956;COSM3752957 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.222 0.188 T 0.098 0.240 B 0.008 0.127 B 0.137 0.184 N 1.000 0.202 P 0.805 0.203 L 1.81 0.252 T -0.64 0.187 N 0.094 0.094 -0.914 0.464 T 0.000 0.000 T . . . 3.657 0.497 23.2 0.999 0.993 0.226 0.216 N c -0.342 -0.234 0.901 0.261 0.461 0.090 0 2.63 0.303 0.744 0.257 0.126 0.213 0.386 0.258 0.561 0.281 3.804 0.082 . . . 0.3336 0.1815 0.3160 0.4530 0.1314 0.4231 0.3907 0.3602 0.2263 0.3272 0.1932 0.2876 0.4205 0.1281 0.4194 0.4029 0.3689 het 1861.40 138 12 119588962 . G A 1861.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.930;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=0.684;QD=13.49;ReadPosRankSum=1.288;VQSLOD=6.4695;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,73:138:99:1891,0,1552 12 119866533 119866533 A G exonic CCDC60 nonsynonymous SNV CCDC60:NM_178499:exon2:c.A136G:p.I46V 0.25 0.22 0.24 0.28 0.33 0.2 0.3381 0.2477 0.2502 0.2829 0.3084 0.3882 0.3257 0.2866 0.29 0.22 0.33 0.26 0.35 rs1064319 COSM1162341 1(pancreas) . . . . . . . . . . . 0.0 0.912 D 0.006 0.126 B 0.011 0.145 B 0.139 0.183 N 1 0.090 P 1.5 0.380 L 0.51 0.586 T -0.98 0.260 N 0.078 0.084 -1.001 0.296 T 0.000 0.000 T . . . -0.069 0.087 1.972 0.974 0.334 0.150 0.185 N c -0.801 -0.770 0.000 0.029 0.487 0.133 0 0.905 0.184 1.007 0.293 0.234 0.260 0.797 0.294 0.996 0.625 6.524 0.213 . . . 0.2795 0.2163 0.1941 0.3073 0.2400 0.2555 0.3295 0.3031 0.2498 0.2720 0.2170 0.2105 0.2980 0.2385 0.2658 0.3111 0.2843 hom 871.27 29 12 119866533 . A G 871.27 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.88;MQ0=0;QD=30.04;VQSLOD=9.3739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:69.22:904,69,0 12 119916900 119916900 A G exonic CCDC60 nonsynonymous SNV CCDC60:NM_178499:exon4:c.A343G:p.T115A 0.054 0.016 0.097 . 0.16 0.016 0.1113 0.0288 0.0522 0.0003 0.2461 0.1546 0.1344 0.0321 0.12 0.03 0.16 0.043 0.11 rs2519540 . . . . . . . . . . . . . 0.119 0.280 T 0.01 0.144 B 0.009 0.133 B 0.059 0.223 N 1 0.090 P 2.015 0.552 M 1.93 0.229 T -2.56 0.553 D 0.016 0.003 -1.064 0.108 T 0.000 0.001 T . . . -1.520 0.016 0.002 0.773 0.114 0.034 0.084 N c -0.831 -0.940 0.997 0.351 0.554 0.283 0 -0.979 0.097 -0.283 0.084 1.199 0.960 0.000 0.063 0.230 0.224 3.953 0.088 . . . 0.1130 0.0282 0.0562 0.0791 0.0002 0.2418 0.1588 0.1175 0.0333 0.1245 0.0289 0.0694 0.0894 0 0.2280 0.1724 0.1375 het 1363.69 134 12 119916900 . A G 1363.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.539;DP=134;Dels=0.00;FS=0.717;HRun=0;HaplotypeScore=0.5784;MQ=59.83;MQ0=0;MQRankSum=1.314;QD=10.18;ReadPosRankSum=-0.898;VQSLOD=6.2037;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,61:134:99:1394,0,2054 12 120146026 120146026 A T exonic CIT synonymous SNV CIT:NM_007174:exon39:c.T5043A:p.I1681I,CIT:NM_001206999:exon40:c.T5169A:p.I1723I 0.0058 0.0015 0.0043 . 0.022 0.002 0.0152 0.0056 0.0091 0 0.0144 0.0224 0.0122 0.0048 0.022 0.0073 0.029 . . rs56167781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0154 0.0047 0.0073 0.0004 6.164e-05 0.0156 0.0256 0.0137 0.0050 0.0175 0.0044 0.0024 0.0033 0 0.0146 0.0293 0.0112 het 1901.07 130 12 120146026 . A T 1901.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.536;DP=130;Dels=0.00;FS=13.490;HRun=0;HaplotypeScore=1.7803;MQ=59.54;MQ0=0;MQRankSum=-0.493;QD=14.62;ReadPosRankSum=-0.516;VQSLOD=3.9553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,70:130:99:1931,0,1704 12 120156141 120156141 G A exonic CIT synonymous SNV CIT:NM_007174:exon31:c.C3951T:p.S1317S,CIT:NM_001206999:exon32:c.C4077T:p.S1359S 0.18 0.24 0.19 0.011 0.28 0.17 0.2277 0.2406 0.1490 0.0097 0.2284 0.2750 0.2212 0.1978 0.27 0.24 0.29 0.16 0.25 rs278102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2243 0.2368 0.1590 0.2547 0.0110 0.2264 0.2779 0.2464 0.1997 0.2446 0.2358 0.1802 0.2682 0.0068 0.2189 0.2851 0.2392 het 937.74 64 12 120156141 . G A 937.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.200;DP=64;Dels=0.00;FS=3.649;HRun=0;HaplotypeScore=3.3074;MQ=58.98;MQ0=0;MQRankSum=0.078;QD=14.65;ReadPosRankSum=0.955;VQSLOD=5.8322;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,34:64:99:968,0,746 12 120171995 120171995 T C exonic CIT synonymous SNV CIT:NM_007174:exon25:c.A3198G:p.R1066R,CIT:NM_001206999:exon26:c.A3324G:p.R1108R 0.79 0.94 0.88 0.55 0.81 0.75 0.8062 0.9278 0.8370 0.5358 0.8217 0.8245 0.8179 0.7682 0.86 0.93 0.82 0.87 0.87 rs278109 COSM4146702;COSM4146703;COSM4146704 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8065 0.9280 0.8368 0.8682 0.5267 0.8280 0.8220 0.8377 0.7724 0.8387 0.9265 0.8353 0.8874 0.5177 0.8276 0.8244 0.8288 hom 5398.37 173 12 120171995 . T C 5398.37 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.712;DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.5820;MQ=58.72;MQ0=0;MQRankSum=1.511;QD=31.20;ReadPosRankSum=0.101;VQSLOD=2.8455;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,172:173:99:5398,424,0 12 120189879 120189879 A G exonic CIT synonymous SNV CIT:NM_007174:exon22:c.T2754C:p.A918A,CIT:NM_001206999:exon23:c.T2880C:p.A960A 0.6 0.65 0.67 0.57 0.53 0.58 0.5723 0.6456 0.6562 0.5466 0.5940 0.5474 0.5938 0.5714 0.57 0.64 0.53 0.67 0.62 rs904655 COSM4146705;COSM4146706;COSM4146707 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5753 0.6478 0.6463 0.6170 0.5378 0.6024 0.5412 0.5866 0.5710 0.5788 0.6414 0.6247 0.6175 0.5305 0.6120 0.5364 0.5760 het 712.41 83 12 120189879 . A G 712.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.216;DP=83;Dels=0.00;FS=8.250;HRun=1;HaplotypeScore=0.9832;MQ=58.71;MQ0=0;MQRankSum=0.435;QD=8.58;ReadPosRankSum=-1.586;VQSLOD=4.1699;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,32:83:99:742,0,1497 12 120189888 120189888 T C exonic CIT synonymous SNV CIT:NM_007174:exon22:c.A2745G:p.T915T,CIT:NM_001206999:exon23:c.A2871G:p.T957T 0.54 0.47 0.63 0.57 0.5 0.58 0.5310 0.4595 0.6319 0.5464 0.5688 0.5102 0.5632 0.5646 0.49 0.46 0.5 0.6 0.6 rs904654 COSM4146710;COSM4146709;COSM4146708 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5381 0.4618 0.6207 0.5736 0.5377 0.5773 0.5048 0.5529 0.5649 0.5031 0.4491 0.5983 0.5912 0.5325 0.5880 0.5026 0.5329 het 710.97 79 12 120189888 . T C 710.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.231;DP=79;Dels=0.00;FS=10.435;HRun=1;HaplotypeScore=1.8499;MQ=58.64;MQ0=0;MQRankSum=1.522;QD=9.00;ReadPosRankSum=-0.497;VQSLOD=4.1850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,28:79:99:741,0,1462 12 120313953 120313953 C T exonic CIT nonsynonymous SNV CIT:NM_001206999:exon2:c.G20A:p.G7E,CIT:NM_007174:exon2:c.G20A:p.G7E 0.011 0.0015 0.016 . 0.037 0.0061 0.0230 0.0081 0.0141 0 0.0225 0.0334 0.0232 0.0087 0.032 0.01 0.043 . . rs36054900 . . . . . . . . . . . . . 0.011 0.555 D 0.019 0.200 B 0.025 0.212 B 0.027 0.258 N 1.000 0.503 D 1.87 0.498 L -0.12 0.646 T -0.8 0.221 N 0.218 0.267 -0.983 0.342 T 0.053 0.225 T . . . 3.754 0.508 23.3 0.993 0.581 0.948 0.620 D c 0.008 0.209 1.000 0.747 0.644 0.439 0 5.68 0.880 3.551 0.532 0.923 0.433 0.995 0.385 0.914 0.390 17.974 0.890 . . . 0.0231 0.0070 0.0118 0.0108 5.813e-05 0.0220 0.0375 0.0221 0.0088 0.0276 0.0073 0.0155 0.0166 0 0.0223 0.0446 0.0265 het 1174.21 112 12 120313953 . C T 1174.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.343;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4750;MQ=59.67;MQ0=0;MQRankSum=1.279;QD=10.48;ReadPosRankSum=-0.259;VQSLOD=6.0585;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,47:112:99:1204,0,1782 12 120575549 120575549 A C exonic GCN1 nonsynonymous SNV GCN1:NM_006836:exon49:c.T6463G:p.Y2155D 1. 1. 1. 1. 1. 1. 0.9987 0.9992 0.9990 1 0.9997 0.9981 1 0.9996 1. 1. 1. 0.99 0.98 rs3864938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9994 0.9993 1 1 0.9996 0.9979 0.9989 0.9997 0.9987 0.9993 1 1 1 0.9991 0.9980 0.9990 hom 1665.28 51 12 120575549 . A C 1665.28 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=58.26;MQ0=0;QD=32.65;VQSLOD=9.4628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1698,138,0 12 120589160 120589160 A G exonic GCN1 synonymous SNV GCN1:NM_006836:exon34:c.T4098C:p.L1366L 0.91 0.99 0.82 0.99 0.76 0.95 0.8346 0.9658 0.8720 0.9845 0.7243 0.7790 0.8203 0.9213 0.84 0.96 0.78 0.92 0.8 rs2286046 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8323 0.9658 0.8659 0.8465 0.9840 0.7229 0.7772 0.8161 0.9204 0.8338 0.9616 0.8600 0.85 0.9864 0.7331 0.7674 0.7918 hom 1673.52 56 12 120589160 . A G 1673.52 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=58.41;MQ0=0;QD=29.88;VQSLOD=8.1596;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1707,141,0 12 120637199 120637199 G A exonic RPLP0 synonymous SNV RPLP0:NM_001002:exon3:c.C144T:p.R48R,RPLP0:NM_053275:exon3:c.C144T:p.R48R 0.058 0.0045 0.19 . 0.11 0.042 0.0912 0.0187 0.2735 0.0005 0.1300 0.0907 0.0947 0.0426 0.077 0.024 0.1 0.054 0.13 rs1045110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1006 0.0174 0.2595 0.0290 0.0002 0.1248 0.0981 0.0884 0.0413 0.0804 0.0214 0.2196 0.0430 0 0.1231 0.1076 0.0624 hom 5634.43 188 12 120637199 . G A 5634.43 Mask AC=2;AF=1.00;AN=2;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6553;MQ=59.22;MQ0=1;QD=29.97;VQSLOD=8.9604;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,187:188:99:5634,457,0 12 120741382 120741382 G A exonic SIRT4 synonymous SNV SIRT4:NM_012240:exon2:c.G18A:p.A6A 0.084 0.027 0.19 0.12 0.054 0.083 0.0738 0.0333 0.2646 0.1007 0.0598 0.0469 0.0633 0.0652 0.042 0.035 0.045 0.098 0.033 rs61748115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0809 0.0329 0.2506 0.0242 0.1011 0.0598 0.0490 0.0689 0.0609 0.0514 0.0304 0.2138 0.0369 0.1031 0.0564 0.0477 0.0581 het 1385.13 131 12 120741382 . G A 1385.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.365;DP=131;Dels=0.00;FS=6.686;HRun=0;HaplotypeScore=0.9987;MQ=57.90;MQ0=1;MQRankSum=0.061;QD=10.57;ReadPosRankSum=-1.586;VQSLOD=4.1693;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,62:131:99:1415,0,1758 12 120750517 120750517 A G exonic SIRT4 synonymous SNV SIRT4:NM_012240:exon3:c.A756G:p.E252E 0.084 0.028 0.19 0.12 0.054 0.083 0.0732 0.0328 0.2636 0.1025 0.0597 0.0466 0.0631 0.0636 0.042 0.035 0.045 0.098 0.041 rs16950058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0812 0.0328 0.2507 0.0240 0.1034 0.0599 0.0491 0.0685 0.0611 0.0516 0.0307 0.2124 0.0364 0.1053 0.0567 0.0477 0.0601 het 782.06 77 12 120750517 . A G 782.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.479;DP=77;Dels=0.00;FS=3.229;HRun=1;HaplotypeScore=1.9981;MQ=59.70;MQ0=0;MQRankSum=-0.571;QD=10.16;ReadPosRankSum=0.324;VQSLOD=6.2923;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,33:77:99:812,0,1301 12 120762837 120762837 A G exonic PLA2G1B synonymous SNV PLA2G1B:NM_000928:exon3:c.T222C:p.Y74Y 0.091 0.052 0.19 0.12 0.054 0.084 0.0755 0.0598 0.2658 0.1005 0.0597 0.0465 0.0618 0.0632 0.051 0.061 0.046 0.098 0.041 rs5634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0831 0.0605 0.2523 0.0241 0.1014 0.0600 0.0492 0.0691 0.0610 0.0601 0.0614 0.2141 0.0364 0.1027 0.0564 0.0475 0.0613 het 1645.04 118 12 120762837 . A G 1645.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.022;DP=118;Dels=0.00;FS=3.617;HRun=0;HaplotypeScore=2.7285;MQ=59.53;MQ0=0;MQRankSum=-1.034;QD=13.94;ReadPosRankSum=0.646;VQSLOD=5.9136;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,61:118:99:1675,0,1565 12 120884328 120884328 C T exonic GATC synonymous SNV GATC:NM_176818:exon1:c.C45T:p.G15G 0.26 0.079 0.26 0.49 0.28 0.25 0.2990 0.1059 0.2935 0.5007 0.3381 0.3008 0.3352 0.2915 0.24 0.11 0.32 0.22 0.27 rs2235217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2999 0.1013 0.2959 0.2258 0.4915 0.3218 0.3064 0.2811 0.2853 0.2694 0.1094 0.2806 0.2417 0.5025 0.3448 0.3190 0.2832 het 939.08 74 12 120884328 . C T 939.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.069;DP=74;Dels=0.00;FS=4.026;HRun=0;HaplotypeScore=3.3388;MQ=59.16;MQ0=0;MQRankSum=0.866;QD=12.69;ReadPosRankSum=0.028;VQSLOD=6.0039;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,37:74:99:969,0,974 12 120907271 120907271 G T exonic SRSF9 synonymous SNV SRSF9:NM_003769:exon1:c.C142A:p.R48R 0.074 0.027 0.088 0.079 0.11 0.087 0.0988 0.0337 0.0979 0.0661 0.1286 0.1159 0.0862 0.0772 0.081 0.031 0.11 . 0.14 rs11548262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0969 0.0287 0.0956 0.0670 0.0638 0.1260 0.1132 0.0887 0.0770 0.0925 0.0272 0.1112 0.0629 0.0539 0.1282 0.1240 0.1232 het 900.55 56 12 120907271 . G T 900.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.842;DP=56;Dels=0.00;FS=5.695;HRun=0;HaplotypeScore=1.7219;MQ=59.67;MQ0=0;MQRankSum=-0.643;QD=16.08;ReadPosRankSum=-1.642;VQSLOD=4.6857;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,35:56:99:931,0,461 12 120954490 120954490 C T exonic COQ5 nonsynonymous SNV COQ5:NM_032314:exon3:c.G454A:p.A152T 0.14 0.29 0.1 0.079 0.11 0.087 0.1184 0.2576 0.1063 0.0651 0.1262 0.1154 0.0980 0.0773 0.16 0.25 0.11 0.23 0.12 rs3742049 COSM1162585 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(prostate);1(large_intestine) . . . . . . . . . . . 0.248 0.324 T 0.051 0.210 B 0.03 0.205 B 0.001 0.405 N 0.089 0.588 P 2.105 0.586 M -0.07 0.638 T -0.53 0.189 N 0.071 0.293 -1.071 0.093 T 0.000 0.000 T . . . 3.522 0.481 23.1 0.998 0.880 0.805 0.398 D c -0.044 0.107 0.001 0.076 0.732 0.924 0 4.48 0.538 0.328 0.193 0.058 0.164 0.990 0.367 1.000 0.888 7.399 0.260 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000167272.6|ENSG00000167272.6|ENSG00000167272.6|ENSG00000110871.10|ENSG00000110871.10 Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa 0.1137 0.2577 0.1083 0.0683 0.0659 0.1266 0.1149 0.0988 0.0782 0.1549 0.2414 0.1289 0.0629 0.0543 0.1288 0.1259 0.1385 het 2073.64 177 12 120954490 . C T 2073.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.284;DP=177;DS;Dels=0.00;FS=2.003;HRun=0;HaplotypeScore=5.8085;MQ=59.39;MQ0=0;MQRankSum=0.788;QD=11.72;ReadPosRankSum=1.495;VQSLOD=4.9036;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,75:177:99:2104,0,3101 12 120966921 120966921 A G exonic COQ5 synonymous SNV COQ5:NM_032314:exon1:c.T24C:p.A8A 0.26 0.081 0.26 0.49 0.28 0.27 0.3070 0.1131 0.3018 0.5079 0.3444 0.3069 0.3383 0.2999 0.24 0.11 0.31 0.23 0.25 rs3742052 COSM3752963 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3056 0.1028 0.3013 0.2363 0.4992 0.3289 0.3085 0.2865 0.2995 0.2708 0.1113 0.2770 0.2450 0.5068 0.3441 0.3203 0.2838 het 727.57 49 12 120966921 . A G 727.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.224;DP=49;Dels=0.00;FS=1.639;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-1.141;QD=14.85;ReadPosRankSum=0.139;VQSLOD=6.2627;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,26:49:99:758,0,575 12 121017171 121017171 A G exonic POP5 synonymous SNV POP5:NM_198202:exon4:c.T292C:p.L98L,POP5:NM_015918:exon5:c.T442C:p.L148L 0.79 0.71 0.83 0.84 0.8 0.8 0.8147 0.7053 0.8829 0.8413 0.8662 0.8147 0.8095 0.8016 0.78 0.71 0.82 0.79 0.74 rs7174 COSM4146719 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8186 0.7051 0.8812 0.6279 0.8398 0.8607 0.8254 0.7988 0.8046 0.7978 0.6993 0.8389 0.6258 0.8331 0.8575 0.8375 0.8116 hom 7871.96 250 12 121017171 . A G 7871.96 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9330;MQ=59.44;MQ0=0;QD=31.49;VQSLOD=9.6568;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7871,602,0 12 121174899 121174899 T C exonic ACADS synonymous SNV ACADS:NM_000017:exon3:c.T321C:p.R107R,ACADS:NM_001302554:exon3:c.T321C:p.R107R 0.59 0.66 0.59 0.57 0.47 0.64 0.5706 0.6495 0.6720 0.5701 0.5448 0.5119 0.5879 0.6653 0.51 0.62 0.45 0.67 0.37 rs3914 COSM3765623 1(liver) Benign|Benign not_specified|Deficiency_of_butyryl-CoA_dehydrogenase RCV000123476.3|RCV000263245.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0342783:201470:ORPHA26792:124166007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5208 0.6350 0.6224 0.4791 0.5316 0.4609 0.4489 0.5307 0.6482 0.5099 0.6391 0.5716 0.4868 0.5433 0.4429 0.4466 0.4664 het 245.34 23 12 121174899 . T C 245.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.215;DP=23;Dels=0.00;FS=10.488;HRun=0;HaplotypeScore=0.9578;MQ=59.19;MQ0=0;MQRankSum=-0.092;QD=10.67;ReadPosRankSum=-0.031;VQSLOD=4.7497;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,11:23:99:275,0,379 12 121176679 121176679 C T exonic ACADS synonymous SNV ACADS:NM_000017:exon8:c.C990T:p.R330R,ACADS:NM_001302554:exon8:c.C978T:p.R326R 0.67 0.97 0.62 0.57 0.46 0.64 0.5453 0.8940 0.6463 0.5283 0.4608 0.4582 0.5408 0.6475 0.59 0.88 0.45 0.8 0.57 rs3915 COSM4146720 1(thyroid) Benign|Benign not_specified|Deficiency_of_butyryl-CoA_dehydrogenase RCV000123477.4|RCV000334430.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0342783:201470:ORPHA26792:124166007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5389 0.9003 0.6371 0.4830 0.5342 0.4579 0.4516 0.5330 0.6488 0.5800 0.8911 0.5871 0.4868 0.5417 0.4369 0.4443 0.4745 het 1336.37 108 12 121176679 . C T 1336.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.470;DP=108;Dels=0.00;FS=0.737;HRun=0;HaplotypeScore=0.9867;MQ=58.86;MQ0=0;MQRankSum=0.338;QD=12.37;ReadPosRankSum=0.381;VQSLOD=6.3092;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,53:108:99:1366,0,1383 12 121416622 121416622 C G exonic HNF1A synonymous SNV HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L 0.43 0.32 0.44 0.38 0.47 0.58 0.4722 0.3467 0.4430 0.3969 0.4887 0.4772 0.5226 0.5739 0.42 0.34 0.46 0.29 0.31 rs1169289 COSM430521 15(liver);1(large_intestine) other|Benign not_specified|Maturity-onset_diabetes_of_the_young RCV000117231.4|RCV000340336.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0004904:CN004347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4702 0.3341 0.4414 0.5831 0.3927 0.4887 0.4657 0.4869 0.5745 0.4253 0.3333 0.4713 0.5533 0.3823 0.4897 0.4598 0.4776 hom 1486.99 49 12 121416622 . C G 1486.99 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.308;DP=49;Dels=0.00;FS=3.680;HRun=1;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=0.247;QD=30.35;ReadPosRankSum=0.884;VQSLOD=3.5742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,48:49:89.95:1520,90,0 12 121416650 121416650 A C exonic HNF1A nonsynonymous SNV HNF1A:NM_000545:exon1:c.A79C:p.I27L,HNF1A:NM_001306179:exon1:c.A79C:p.I27L 0.3 0.083 0.33 0.39 0.34 0.43 0.3533 0.1240 0.3657 0.4181 0.4013 0.3526 0.4043 0.4245 0.26 0.12 0.34 0.25 0.22 rs1169288 COSM430522 1(urinary_tract);10(soft_tissue);9(liver);4(prostate);1(large_intestine) other|other|other|Benign Insulin_resistance\x2c_susceptibility_to|SERUM_HDL_CHOLESTEROL_LEVEL\x2c_MODIFIER_OF|not_specified|Maturity-onset_diabetes_of_the_young RCV000016074.3|RCV000016075.27|RCV000117233.6|RCV000401319.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0004904:CN004347 LDL cholesterol . 1.42 20686565 rs1169288 1E-15 0.082 0.332 T 0.02 0.179 B 0.013 0.234 B 0.001 0.431 D 0.004 0.588 P 2.125 0.592 M -4.99 0.985 D -0.92 0.264 N 0.328 0.538 -1.199 0.002 T 0.000 0.000 T . . . 5.234 0.707 25.6 0.976 0.344 0.910 0.524 D c -0.166 -0.019 1.000 0.747 0.517 0.208 0 4.45 0.532 3.208 0.506 1.024 0.645 1.000 0.715 0.999 0.750 12.900 0.573 Hepatocyte nuclear factor 1\x2c N-terminal|Hepatocyte nuclear factor 1\x2c dimerisation domain ENSG00000157837.11|ENSG00000110917.3 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.3558 0.1183 0.3658 0.4668 0.4177 0.3978 0.3370 0.3646 0.4263 0.2924 0.1228 0.3648 0.43 0.4117 0.3955 0.3427 0.3671 hom 1191.53 42 12 121416650 . A C 1191.53 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.825;DP=42;Dels=0.00;FS=5.119;HRun=0;HaplotypeScore=0.9332;MQ=59.45;MQ0=0;MQRankSum=0.330;QD=28.37;ReadPosRankSum=0.660;VQSLOD=3.7382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,41:42:71.85:1225,72,0 12 121432117 121432117 G C exonic HNF1A synonymous SNV HNF1A:NM_000545:exon4:c.G864C:p.G288G,HNF1A:NM_001306179:exon4:c.G864C:p.G288G 0.18 0.18 0.41 0.005 0.3 0.076 0.2788 0.2155 0.4862 0.0010 0.3177 0.3303 0.2558 0.1095 0.24 0.18 0.26 0.15 0.14 rs56348580 COSM5019699;COSM5019700 10(soft_tissue);1(liver) Benign|Benign not_specified|Maturity-onset_diabetes_of_the_young RCV000117234.4|RCV000331151.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0004904:CN004347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2655 0.1991 0.4451 0.3174 0.0015 0.2707 0.3022 0.2825 0.0974 0.2484 0.2079 0.4201 0.3167 0.0006 0.2733 0.2807 0.2691 het 422.74 36 12 121432117 . G C 422.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.914;DP=36;Dels=0.00;FS=0.000;HRun=8;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;MQRankSum=0.742;QD=11.74;ReadPosRankSum=-1.259;VQSLOD=6.2303;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,19:36:99:453,0,411 12 121437114 121437114 G A exonic HNF1A synonymous SNV HNF1A:NM_000545:exon8:c.G1545A:p.T515T,HNF1A:NM_001306179:exon8:c.G1545A:p.T515T 0.063 0.012 0.11 0.001 0.2 0.022 0.1404 0.0314 0.0832 0.0002 0.2201 0.2028 0.1604 0.0378 0.14 0.04 0.19 0.022 0.16 rs55834942 COSM1559373 8(soft_tissue);1(thyroid);1(large_intestine);3(central_nervous_system) other|Likely benign not_specified|Maturity-onset_diabetes_of_the_young RCV000117229.4|RCV000342799.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0004904:CN004347 . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 1.871 0.286 15.41 0.876 0.168 0.060 0.119 N n 1.086 1.589 1.000 0.747 0.428 0.059 0 -7.74 0.011 -1.465 0.024 -0.322 0.076 0.001 0.137 0.981 0.494 5.290 0.149 . ENSG00000135124.10|ENSG00000135124.10|ENSG00000135124.10 Artery_Aorta|Nerve_Tibial|Whole_Blood 0.1403 0.0274 0.0888 0.2209 0.0003 0.2240 0.1952 0.1739 0.0395 0.1373 0.0304 0.1127 0.2285 0.0006 0.2203 0.1918 0.1830 het 1811.24 128 12 121437114 . G A 1811.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.732;DP=128;Dels=0.00;FS=1.423;HRun=0;HaplotypeScore=8.3369;MQ=59.38;MQ0=0;MQRankSum=-0.346;QD=14.15;ReadPosRankSum=0.021;VQSLOD=4.2900;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,66:128:99:1841,0,1606 12 121437382 121437382 A G exonic HNF1A nonsynonymous SNV HNF1A:NM_000545:exon9:c.A1720G:p.S574G,HNF1A:NM_001306179:exon9:c.A1741G:p.S581G 0.99 0.95 1. 1. 1. 1. 0.9958 0.9534 0.9975 0.9998 1 0.9999 1 0.9999 0.99 0.96 1. 0.96 0.82 rs1169305 COSM4445211 1(large_intestine) Pathogenic|Benign\x2cnot provided|Benign Maturity-onset_diabetes_of_the_young\x2c_type_3|not_specified\x2cMaturity-onset_diabetes_of_the_young\x2c_type_3|not_specified RCV000016077.25|RCV000438436.1\x2cRCV000030490.2|RCV000121200.1 MedGen:OMIM|MedGen\x2cMedGen:OMIM|MedGen C1838100:600496|CN169374\x2cC1838100:600496|CN169374 . . . . . . 0.779 0.033 T 0.0 0.026 B 0.0 0.013 B 0.043 0.238 N 1 0.090 P . . . -2.86 0.914 D -0.08 0.082 N 0.266 0.323 -0.950 0.410 T 0.000 0.000 T . . . 0.272 0.120 5.414 0.716 0.094 0.010 0.038 N c -0.944 -0.899 1.000 0.517 0.428 0.059 0 2.58 0.299 0.738 0.256 -0.200 0.102 0.478 0.266 0.047 0.162 8.164 0.302 Hepatocyte nuclear factor 1\x2c alpha isoform C-terminal . . 0.9966 0.9518 0.9976 1 0.9998 1 0.9998 0.9989 1 0.9870 0.9548 0.9940 1 1 1 0.9999 0.9980 hom 867.18 32 12 121437382 . A G 867.18 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=56.94;MQ0=0;QD=27.10;VQSLOD=6.0262;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:72.20:900,72,0 12 121454257 121454257 T A exonic C12orf43 synonymous SNV C12orf43:NM_001286191:exon1:c.A21T:p.T7T,C12orf43:NM_001286192:exon1:c.A21T:p.T7T,C12orf43:NM_001286195:exon1:c.A21T:p.T7T,C12orf43:NM_001286196:exon1:c.A21T:p.T7T,C12orf43:NM_001286197:exon1:c.A21T:p.T7T,C12orf43:NM_022895:exon1:c.A21T:p.T7T 0.78 0.57 0.92 0.86 0.83 0.86 0.8157 0.5926 0.9310 0.8755 0.7987 0.8191 0.8128 0.8375 0.75 0.61 0.82 0.73 0.75 rs2258227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8242 0.5862 0.9228 0.8793 0.8761 0.8004 0.8159 0.8403 0.8329 0.7444 0.5955 0.9069 0.8808 0.8685 0.8184 0.7835 0.8211 het 2364.74 212 12 121454257 . T A 2364.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.588;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5157;MQ=59.40;MQ0=0;MQRankSum=0.615;QD=11.15;ReadPosRankSum=1.207;VQSLOD=5.4519;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:123,89:212:99:2395,0,3401 12 121458400 121458400 C T exonic OASL synonymous SNV OASL:NM_001261825:exon4:c.G1119A:p.S373S,OASL:NM_003733:exon6:c.G1509A:p.S503S 0.1 0.022 0.049 0.14 0.17 0.14 0.1516 0.0456 0.0546 0.1213 0.2012 0.1804 0.1744 0.1650 0.14 0.05 0.18 0.087 0.2 rs12819210 COSM3752965 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1491 0.0445 0.0595 0.1194 0.1206 0.1992 0.1829 0.1452 0.1661 0.1535 0.0488 0.0694 0.1192 0.1270 0.1809 0.2158 0.1605 het 1114.90 110 12 121458400 . C T 1114.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.007;DP=110;Dels=0.00;FS=4.861;HRun=2;HaplotypeScore=2.9903;MQ=59.45;MQ0=0;MQRankSum=-0.153;QD=10.14;ReadPosRankSum=0.109;VQSLOD=5.6175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,42:110:99:1145,0,1704 12 121600253 121600253 T C exonic P2RX7 nonsynonymous SNV P2RX7:NM_002562:exon5:c.T463C:p.Y155H 0.53 0.69 0.39 0.41 0.56 0.5 0.5243 0.6923 0.2908 0.3960 0.6047 0.5534 0.5409 0.4981 0.6 0.69 0.55 0.41 0.58 rs208294 COSM3752966 1(large_intestine) . . . . . . . . . . . . . . 0.988 0.689 D 0.808 0.670 P 0.000 0.629 D 1.000 0.810 P 2.945 0.851 M . . . . . . 0.129 0.627 -1.111 0.030 T 0.000 0.000 T . . . 3.311 0.457 22.9 0.997 0.809 0.964 0.686 D c 0.512 0.413 1.000 0.417 0.554 0.283 0 5.58 0.843 6.547 0.736 0.964 0.580 1.000 0.715 0.012 0.117 13.689 0.618 P2X purinoreceptor extracellular domain ENSG00000135097.2|ENSG00000157837.11 Artery_Tibial|Stomach 0.5123 0.6982 0.3027 0.5263 0.3970 0.6077 0.5525 0.5217 0.4923 0.5912 0.7043 0.3592 0.5795 0.3897 0.5917 0.5608 0.5815 het 471.52 43 12 121600253 . T C 471.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.285;DP=43;Dels=0.00;FS=1.172;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;MQRankSum=0.783;QD=10.97;ReadPosRankSum=-0.455;VQSLOD=6.3097;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,20:43:99:502,0,511 12 121615103 121615103 G A exonic P2RX7 nonsynonymous SNV P2RX7:NM_002562:exon11:c.G1042A:p.A348T 0.32 0.46 0.2 0.14 0.38 0.35 0.3582 0.4559 0.1603 0.1117 0.4532 0.3908 0.3811 0.3935 0.42 0.46 0.4 0.38 0.46 rs1718119 . . . . . . . . . . . . . . . . 0.0 0.067 B 0.0 0.013 B 0.044 0.236 N 1.000 0.195 P -2.1 0.002 N . . . . . . 0.168 0.458 -0.964 0.384 T 0.000 0.000 T . . . 2.250 0.332 17.84 0.417 0.030 0.034 0.084 N c -0.947 -0.610 0.999 0.393 0.601 0.348 0 5.62 0.857 1.262 0.324 0.202 0.252 0.975 0.345 0.805 0.338 7.451 0.262 . . . 0.3495 0.4577 0.1661 0.3528 0.1093 0.4520 0.3934 0.3524 0.3954 0.4017 0.4457 0.2086 0.3543 0.1052 0.4436 0.4110 0.3867 het 1467.43 120 12 121615103 . G A 1467.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.492;DP=120;Dels=0.00;FS=1.476;HRun=0;HaplotypeScore=1.7334;MQ=59.81;MQ0=0;MQRankSum=-0.258;QD=12.23;ReadPosRankSum=-0.646;VQSLOD=6.6710;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,58:120:99:1497,0,1732 12 121622304 121622304 A C exonic P2RX7 nonsynonymous SNV P2RX7:NM_002562:exon13:c.A1487C:p.E496A 0.21 0.085 0.19 0.27 0.21 0.32 0.1903 0.0891 0.1915 0.2601 0.1116 0.1817 0.1570 0.2839 0.15 0.09 0.18 0.21 0.14 rs3751143 COSM4146723 3(soft_tissue);1(thyroid) . . . . . Chronic obstructive pulmonary disease-related biomarkers . . 23144326 rs3751143 4E-6 . . . 0.986 0.715 D 0.84 0.818 P 0.000 0.457 D 0.061 0.372 P 2.725 0.800 M . . . . . . 0.628 0.704 -1.050 0.144 T 0.000 0.000 T . . . 5.983 0.822 27.8 0.996 0.760 0.944 0.607 D c 0.721 0.687 1.000 0.747 0.554 0.283 0 5.21 0.719 6.510 0.735 1.135 0.883 1.000 0.715 0.952 0.428 12.446 0.548 . . . 0.1890 0.0884 0.1808 0.1974 0.2567 0.1054 0.1838 0.2010 0.2842 0.1473 0.0909 0.1957 0.1457 0.2537 0.1174 0.1717 0.1677 het 469.56 49 12 121622304 . A C 469.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.586;DP=49;Dels=0.00;FS=1.134;HRun=0;HaplotypeScore=1.5775;MQ=58.72;MQ0=0;MQRankSum=-0.172;QD=9.58;ReadPosRankSum=1.162;VQSLOD=6.1301;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,21:49:99:500,0,779 12 121622520 121622520 A T exonic P2RX7 nonsynonymous SNV P2RX7:NM_002562:exon13:c.A1703T:p.N568I 0.99 1. 0.99 1. 0.98 1. 0.9851 0.9960 0.9986 1 0.9556 0.9756 0.9855 0.9963 0.98 1. 0.98 0.99 0.64 rs1653624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9852 0.9961 0.9954 0.9937 1 0.9719 0.9749 0.9905 0.9965 0.9834 0.9960 0.9881 1 1 0.9739 0.9761 0.9816 hom 450.93 15 12 121622520 . A T 450.93 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.06;VQSLOD=13.3271;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:484,39,0 12 122186268 122186268 C T exonic TMEM120B synonymous SNV TMEM120B:NM_001080825:exon3:c.C225T:p.L75L 0.43 0.21 0.45 0.52 0.55 0.48 0.4959 0.2511 0.4239 0.5236 0.5118 0.5451 0.5102 0.4724 0.45 0.26 0.55 0.36 0.61 rs28651018 COSM4146730;COSM4146729 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4990 0.2485 0.4264 0.5641 0.5225 0.5186 0.5480 0.5343 0.4720 0.4429 0.2614 0.4147 0.5497 0.5310 0.4931 0.5211 0.5205 hom 3566.44 116 12 122186268 . C T 3566.44 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.583;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.8112;MQ=58.83;MQ0=0;MQRankSum=1.583;QD=30.75;ReadPosRankSum=1.613;VQSLOD=5.0219;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,115:116:99:3536,246,0 12 122186317 122186317 G A exonic TMEM120B nonsynonymous SNV TMEM120B:NM_001080825:exon3:c.G274A:p.D92N 0.43 0.21 0.45 0.52 0.55 0.48 0.4962 0.2507 0.4259 0.5234 0.5120 0.5450 0.5090 0.4735 0.45 0.26 0.55 0.36 0.61 rs28655666 COSM1599921;COSM1599922 1(bone);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(central_nervous_system) . . . . . . . . . . . 0.09 0.337 T 0.007 0.131 B 0.022 0.184 B 0.000 0.629 D 0.000 0.504 P 1.595 0.408 L 1.26 0.363 T -2.32 0.558 N 0.072 0.061 -0.934 0.436 T 0.000 0.000 T . . . 3.494 0.478 23.1 0.993 0.575 0.840 0.428 D c -0.190 -0.039 1.000 0.747 0.731 0.878 0 3.45 0.384 3.881 0.556 0.080 0.190 1.000 0.715 0.995 0.604 11.992 0.523 . ENSG00000188735.8 Artery_Aorta 0.4991 0.2476 0.4281 0.5642 0.5227 0.5185 0.5479 0.5335 0.4721 0.4427 0.2617 0.4187 0.5530 0.5293 0.4923 0.5208 0.5205 hom 3016.38 96 12 122186317 . G A 3016.38 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8332;MQ=59.22;MQ0=0;QD=31.42;VQSLOD=9.3920;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3049,244,0 12 122295335 122295335 T C exonic HPD nonsynonymous SNV HPD:NM_002150:exon4:c.A97G:p.T33A 0.88 0.97 0.75 0.87 0.87 0.85 0.8502 0.9622 0.7197 0.8520 0.7750 0.8635 0.8524 0.8465 0.9 0.96 0.87 0.88 0.92 rs1154510 COSM3736057 1(skin) Pathogenic 4-Alpha-hydroxyphenylpyruvate_hydroxylase_deficiency RCV000001643.2 MedGen:OMIM:Orphanet C2931042:140350:ORPHA2118 . . . . . . 1.0 0.010 T . . . . . . 0.000 0.843 N 0.997 0.810 P . . . -0.38 0.690 T 3.78 0.001 N 0.05 0.407 -0.945 0.418 T 0.000 0.000 T . . . -0.218 0.075 1.004 0.750 0.105 0.065 0.124 N c -0.224 -0.169 1.000 0.747 0.428 0.059 0 5.48 0.806 4.228 0.582 0.069 0.176 0.999 0.424 0.003 0.074 12.867 0.572 Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase|Glyoxalase/fosfomycin resistance/dioxygenase domain ENSG00000158023.5|ENSG00000158023.5|ENSG00000158023.5|ENSG00000158023.5|ENSG00000158023.5 Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Testis 0.8436 0.9635 0.7256 0.8920 0.8614 0.7777 0.8672 0.8550 0.8475 0.8704 0.9568 0.7363 0.8411 0.8651 0.7803 0.8523 0.8299 hom 2286.25 79 12 122295335 . T C 2286.25 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59.23;MQ0=0;QD=28.94;VQSLOD=8.3340;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2319,196,0 12 122326812 122326812 T C exonic PSMD9 nonsynonymous SNV PSMD9:NM_001261400:exon1:c.T50C:p.V17A,PSMD9:NM_002813:exon1:c.T50C:p.V17A 0.83 0.81 0.73 0.88 0.87 0.85 0.8557 0.8465 0.7528 0.8665 0.8189 0.8751 0.86 0.8449 0.86 0.84 0.87 0.79 0.48 rs2230681 COSM3752982 1(large_intestine) . . . . . . . . . . . 1.0 0.075 T 0.0 0.026 B 0.0 0.013 B 0.215 0.163 N 1 0.090 P -1.69 0.004 N 2.4 0.156 T 0.52 0.029 N 0.011 0.241 -1.034 0.192 T 0.000 0.000 T . . . -1.867 0.010 0.002 0.583 0.058 0.011 0.040 N c -1.687 -1.624 1.000 0.747 0.442 0.072 0 -0.448 0.116 -0.148 0.101 -0.340 0.072 0.000 0.063 0.005 0.090 9.141 0.359 . ENSG00000158023.5|ENSG00000158023.5|ENSG00000158023.5|ENSG00000158023.5 Artery_Tibial|Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg|Testis 0.8362 0.8329 0.7211 0.9057 0.8702 0.7813 0.8690 0.8547 0.8415 0.8343 0.8308 0.7237 0.8576 0.8681 0.7819 0.8515 0.8218 hom 444.30 15 12 122326812 . T C 444.30 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=29.62;VQSLOD=9.0357;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:36.12:477,36,0 12 122353796 122353796 A G exonic PSMD9 nonsynonymous SNV PSMD9:NM_001261400:exon3:c.A275G:p.E92G,PSMD9:NM_002813:exon5:c.A590G:p.E197G 0.29 0.045 0.36 0.48 0.31 0.33 0.3214 0.0755 0.4335 0.4987 0.3684 0.3091 0.3193 0.3312 0.21 0.074 0.28 0.29 0.34 rs14259 COSM3931552 1(haematopoietic_and_lymphoid_tissue);3(urinary_tract) . . . . . . . . . . . 0.137 0.296 T 0.601 0.375 P 0.312 0.397 B 0.000 0.473 D 0.056 0.374 P 2.23 0.633 M -0.76 0.734 T -3.59 0.692 D 0.138 0.245 -0.904 0.476 T 0.000 0.000 T . . . 2.631 0.377 20.4 0.999 0.947 0.854 0.442 D c 0.086 0.141 1.000 0.747 0.706 0.609 0 5.31 0.750 2.055 0.407 0.231 0.259 1.000 0.715 0.111 0.193 12.676 0.561 PDZ domain ENSG00000158023.5|ENSG00000158023.5|ENSG00000158023.5|ENSG00000256811.1|ENSG00000158104.7|ENSG00000110801.9 Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Thyroid 0.3236 0.0697 0.4078 0.2986 0.5031 0.3677 0.2984 0.3273 0.3248 0.2612 0.0741 0.3717 0.2815 0.5218 0.3505 0.3088 0.3517 hom 968.67 34 12 122353796 . A G 968.67 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.9894;MQ=58.20;MQ0=0;QD=28.49;VQSLOD=8.0994;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:78.24:1002,78,0 12 122369762 122369762 C T exonic WDR66 synonymous SNV WDR66:NM_001178003:exon4:c.C858T:p.N286N,WDR66:NM_144668:exon4:c.C858T:p.N286N 0.28 0.02 0.36 0.48 0.31 0.33 0.3215 0.0547 0.4293 0.5012 0.3673 0.3090 0.3281 0.3431 0.22 0.057 0.3 0.29 0.34 rs7313748 COSM3752985 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3261 0.0532 0.4189 0.3027 0.5100 0.3691 0.3024 0.3301 0.3286 0.2565 0.0582 0.3711 0.2815 0.5242 0.3496 0.3083 0.3534 hom 4884.82 163 12 122369762 . C T 4884.82 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9125;MQ=59.49;MQ0=0;QD=29.97;VQSLOD=8.9796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:4884,373,0 12 122396395 122396395 C T exonic WDR66 nonsynonymous SNV WDR66:NM_001178003:exon12:c.C1948T:p.L650F,WDR66:NM_144668:exon12:c.C1948T:p.L650F 0.28 0.016 0.36 0.48 0.31 0.33 0.3184 0.0507 0.4293 0.5012 0.3671 0.3083 0.3233 0.3249 0.22 0.056 0.3 0.29 0.31 rs17852561 COSM3752986 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.506 0.108 T 0.027 0.182 B 0.009 0.133 B 0.386 0.133 N 1 0.090 P 1.43 0.360 L 3.45 0.628 T -1.38 0.342 N 0.02 0.008 -0.951 0.408 T 0.000 0.000 T . . . 1.079 0.198 11.10 0.991 0.512 0.733 0.356 D c -0.300 -0.202 0.905 0.262 0.554 0.283 0 2.94 0.330 0.421 0.208 0.935 0.490 0.929 0.320 1.000 0.888 4.233 0.100 Quinoprotein alcohol dehydrogenase-like superfamily|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000158023.5|ENSG00000158023.5|ENSG00000158023.5|ENSG00000256811.1|ENSG00000158104.7|ENSG00000110801.9 Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Thyroid 0.3246 0.0491 0.4101 0.3004 0.5050 0.3691 0.3012 0.3282 0.3265 0.2558 0.0545 0.3711 0.2815 0.5237 0.3503 0.3093 0.3520 hom 7396.52 243 12 122396395 . C T 7396.52 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2150;MQ=59.24;MQ0=1;QD=30.44;VQSLOD=6.2427;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,242:243:99:7395,593,0 12 122405912 122405912 G T exonic WDR66 nonsynonymous SNV WDR66:NM_001178003:exon17:c.G2608T:p.V870L,WDR66:NM_144668:exon17:c.G2608T:p.V870L 0.29 0.088 0.36 0.47 0.31 0.33 0.3246 0.1147 0.4311 0.4870 0.3709 0.3097 0.3251 0.3313 0.24 0.11 0.3 0.29 0.35 rs1169081 COSM3752987 1(large_intestine) . . . . . . . . . . . 0.197 0.223 T 0.518 0.356 P 0.241 0.369 B 0.000 0.473 D 0.000 0.501 P 2.215 0.627 M 0.57 0.544 T -1.88 0.439 N 0.292 0.352 -0.911 0.467 T 0.000 0.000 T . . . 2.470 0.358 19.27 0.996 0.767 0.859 0.448 D c 0.226 0.286 1.000 0.451 0.554 0.283 0 5.19 0.713 6.424 0.731 1.048 0.713 1.000 0.715 0.964 0.448 18.708 0.916 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000158023.5|ENSG00000158023.5|ENSG00000158023.5|ENSG00000256811.1|ENSG00000158104.7|ENSG00000110801.9 Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Thyroid 0.3280 0.1156 0.4132 0.3018 0.4910 0.3718 0.3015 0.3299 0.3230 0.2731 0.1180 0.3753 0.2815 0.5074 0.3532 0.3085 0.3538 hom 4238.15 142 12 122405912 . G T 4238.15 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8907;MQ=59.68;MQ0=0;QD=29.85;VQSLOD=8.7849;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4238,340,0 12 122497001 122497001 T C exonic BCL7A synonymous SNV BCL7A:NM_001024808:exon6:c.T565C:p.L189L,BCL7A:NM_020993:exon6:c.T628C:p.L210L 0.51 0.35 0.62 0.49 0.58 0.57 0.5588 0.3680 0.6926 0.5365 0.6467 0.5590 0.5661 0.5607 0.5 0.38 0.56 0.49 0.43 rs28629903 COSM3752988 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5683 0.3648 0.6791 0.4899 0.5326 0.6428 0.5635 0.5513 0.5602 0.5264 0.3577 0.6444 0.4470 0.5422 0.6496 0.5838 0.6063 het 1221.07 100 12 122497001 . T C 1221.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.896;DP=100;Dels=0.00;FS=1.616;HRun=0;HaplotypeScore=2.7458;MQ=58.96;MQ0=0;MQRankSum=0.634;QD=12.21;ReadPosRankSum=1.696;VQSLOD=5.8934;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,51:100:99:1251,0,1380 12 122617989 122617989 A G exonic MLXIP nonsynonymous SNV MLXIP:NM_014938:exon9:c.A1187G:p.E396G 0.46 0.51 0.39 0.36 0.47 0.51 0.4265 0.5083 0.3870 0.3855 0.4954 0.4089 0.4389 0.4698 0.42 0.49 0.39 0.47 . rs7978353 COSM3752989;COSM430564 1(liver);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.506 0.146 T 0.0 0.026 B 0.001 0.040 B 0.013 0.013 N 1 0.090 P . . . 2.51 0.309 T 0.52 0.069 N 0.021 0.015 -0.926 0.447 T 0.000 0.000 T . . . -0.537 0.053 0.178 0.900 0.187 0.020 0.059 N c -1.268 -1.293 1.000 0.401 0.778 0.996 0 -0.212 0.125 0.483 0.218 0.041 0.156 0.003 0.159 0.015 0.124 6.064 0.190 . ENSG00000158113.8|ENSG00000256546.1|ENSG00000175727.9|ENSG00000158113.8 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Colon_Transverse|Skin_Sun_Exposed_Lower_leg 0.4214 0.5103 0.3847 0.3268 0.3850 0.4912 0.4098 0.3981 0.4637 0.4538 0.4966 0.4017 0.3067 0.3830 0.5011 0.4317 0.4486 het 681.41 60 12 122617989 . A G 681.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.585;DP=60;Dels=0.00;FS=3.245;HRun=1;HaplotypeScore=1.8410;MQ=59.69;MQ0=0;MQRankSum=-1.110;QD=11.36;ReadPosRankSum=0.270;VQSLOD=6.1874;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,25:60:99:711,0,1067 12 122618131 122618131 A G exonic MLXIP synonymous SNV MLXIP:NM_014938:exon9:c.A1329G:p.P443P 0.23 0.2 0.2 0.27 0.23 0.22 0.2245 0.2130 0.2454 0.3148 0.3078 0.1998 0.23 0.2361 0.18 0.18 0.18 0.16 . rs36045144 COSM5428075;COSM5428074 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2233 0.1992 0.2506 0.0946 0.3224 0.2924 0.1994 0.1948 0.2337 0.2695 0.2256 0.2920 0.0775 0.3269 0.3617 0.2672 0.3203 het 122.22 18 12 122618131 . A G 122.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.251;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-0.352;QD=6.79;ReadPosRankSum=-0.553;VQSLOD=5.9391;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,6:18:99:152,0,279 12 122622795 122622795 A G exonic MLXIP nonsynonymous SNV MLXIP:NM_014938:exon13:c.A2209G:p.M737V 0.009 . 0.0086 . 0.035 0.0041 0.0286 0.0078 0.0081 0 0.0225 0.0445 0.0227 0.0053 0.03 0.0085 0.042 0.022 . rs74580294 . . . . . . . . . . . . . 1.0 0.141 T 0.013 0.154 B 0.03 0.205 B 0.000 0.629 D 0.998 0.449 D . . . -4.54 0.977 D -0.15 0.134 N 0.099 0.241 0.152 0.851 D 0.497 0.809 T . . . 1.865 0.285 15.38 0.953 0.260 0.954 0.645 D c -0.160 0.017 1.000 0.747 0.742 0.980 0 5.15 0.702 3.940 0.561 1.088 0.866 1.000 0.715 0.997 0.653 13.546 0.610 Myc-type\x2c basic helix-loop-helix (bHLH) domain . . 0.0240 0.0068 0.0097 0.0054 0.0001 0.0181 0.0428 0.0209 0.0044 0.0272 0.0080 0.0215 0 0 0.0166 0.0446 0.0295 het 887.52 72 12 122622795 . A G 887.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.321;DP=72;Dels=0.00;FS=4.783;HRun=1;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;MQRankSum=1.842;QD=12.33;ReadPosRankSum=0.765;VQSLOD=4.8058;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,32:72:99:918,0,1009 12 122623000 122623000 T C exonic MLXIP synonymous SNV MLXIP:NM_014938:exon14:c.T2286C:p.T762T 0.55 0.55 0.61 0.49 0.56 0.54 0.5328 0.5378 0.6513 0.5132 0.6003 0.5119 0.5446 0.5136 0.52 0.54 0.51 0.59 . rs4758686 COSM3752990 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5373 0.5405 0.6400 0.3715 0.5140 0.5967 0.5201 0.5068 0.5150 0.5491 0.5345 0.6265 0.3576 0.5124 0.6061 0.5475 0.5552 het 1212.62 86 12 122623000 . T C 1212.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.874;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5233;MQ=58.70;MQ0=0;MQRankSum=-0.787;QD=14.10;ReadPosRankSum=-1.604;VQSLOD=4.7211;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,48:86:99:1243,0,964 12 122674758 122674758 G A exonic LRRC43 synonymous SNV LRRC43:NM_001098519:exon5:c.G744A:p.R248R,LRRC43:NM_152759:exon5:c.G189A:p.R63R 0.65 0.34 0.64 0.9 0.73 0.73 0.7073 0.3962 0.6543 0.9131 0.8180 0.7225 0.7178 0.7159 0.62 0.41 0.72 0.58 0.74 rs4758651 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7122 0.3927 0.6579 0.7053 0.9131 0.8125 0.7216 0.7151 0.7123 0.6585 0.4004 0.6364 0.6788 0.9142 0.8162 0.7387 0.7531 het 3173.18 228 12 122674758 . G A 3173.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.203;DP=228;Dels=0.00;FS=13.683;HRun=0;HaplotypeScore=9.9568;MQ=59.53;MQ0=0;MQRankSum=0.032;QD=13.92;ReadPosRankSum=-0.673;VQSLOD=2.5171;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,122:228:99:3203,0,2918 12 122674780 122674780 C A exonic LRRC43 nonsynonymous SNV LRRC43:NM_001098519:exon5:c.C766A:p.Q256K,LRRC43:NM_152759:exon5:c.C211A:p.Q71K 0.13 0.095 0.27 0.036 0.2 0.12 0.1789 0.1006 0.2489 0.0299 0.1439 0.2081 0.1789 0.1507 0.17 0.1 0.21 0.15 0.14 rs11060094 COSM4146751;COSM4146750 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(skin);1(thyroid) . . . . . . . . . . . 0.092 0.408 T 0.982 0.581 D 0.968 0.701 D 0.000 0.629 D 0.030 0.388 P 2.985 0.859 M 1.91 0.233 T -3.08 0.636 D 0.21 0.358 -1.139 0.014 T 0.000 0.000 T . . . 6.284 0.868 29.1 0.996 0.723 0.970 0.720 D c 0.631 0.605 0.967 0.289 0.554 0.283 0 4.95 0.648 3.746 0.546 0.921 0.432 1.000 0.715 0.858 0.358 17.807 0.885 Leucine-rich repeat domain\x2c L domain-like ENSG00000139719.5 Brain_Cerebellar_Hemisphere 0.1807 0.0976 0.2454 0.1797 0.0293 0.1490 0.2103 0.1834 0.1520 0.1571 0.1025 0.2458 0.1821 0.0259 0.1489 0.1995 0.1568 het 2923.44 223 12 122674780 . C A 2923.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.601;DP=223;Dels=0.00;FS=10.088;HRun=1;HaplotypeScore=8.7601;MQ=59.73;MQ0=0;MQRankSum=-0.883;QD=13.11;ReadPosRankSum=-0.378;VQSLOD=3.6230;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,112:223:99:2953,0,3249 12 122691738 122691738 C A exonic B3GNT4 synonymous SNV B3GNT4:NM_001330492:exon2:c.C865A:p.R289R,B3GNT4:NM_030765:exon3:c.C940A:p.R314R 0.99 0.98 1. 1. 1. 1. 0.9979 0.9771 0.9991 0.9999 1 0.9999 1 1 0.99 0.98 1. 0.98 1. rs4758675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9759 0.9990 0.9998 1 1 0.9999 0.9998 1 0.9941 0.9797 0.9988 1 1 1 0.9998 0.9990 hom 3685.25 114 12 122691738 . C A 3685.25 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=58.82;MQ0=0;QD=32.33;VQSLOD=8.7081;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3685,289,0 12 123200247 123200247 G C exonic HCAR3 nonsynonymous SNV HCAR3:NM_006018:exon1:c.C1038G:p.I346M 0.9 0.99 0.95 0.84 0.93 0.75 0.9125 0.9850 0.9358 0.8450 0.9489 0.9369 0.9284 0.7720 0.94 0.98 0.93 0.94 . rs1696351 COSM4146764;COSM147628;COSM4146765 1(stomach);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.845 0.003 N 0.03 0.622 T 0.58 0.026 N 0.027 0.009 -0.992 0.321 T 0.000 0.000 T . . . 0.229 0.116 4.983 0.654 0.075 0.001 0.005 N c -1.409 -1.482 0.002 0.090 0.554 0.283 0 -0.682 0.107 -0.118 0.106 -0.171 0.105 0.000 0.063 0.007 0.100 8.700 0.333 . . . 0.9155 0.9859 0.9412 0.9537 0.8478 0.9504 0.9368 0.9313 0.7730 0.9504 0.9827 0.9594 0.9603 0.8421 0.9506 0.9432 0.9399 hom 3559.59 112 12 123200247 . G C 3559.59 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.564;DP=112;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9940;MQ=44.32;MQ0=9;MQRankSum=-0.420;QD=31.78;ReadPosRankSum=-1.732;VQSLOD=2.3651;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,111:112:99:3528,263,0 12 123200768 123200768 T G exonic HCAR3 nonsynonymous SNV HCAR3:NM_006018:exon1:c.A517C:p.T173P 0.46 0.5 0.44 0.49 0.57 0.29 0.5063 0.5087 0.3783 0.5356 0.5017 0.5713 0.5077 0.3186 0.55 0.51 0.57 0.51 . rs1798192 COSM147629 1(stomach) . . . . . . . . . . . 0.261 0.165 T 0.001 0.067 B 0.005 0.104 B . . . 1 0.090 P 0.895 0.225 L 1.22 0.370 T -1.51 0.368 N 0.017 0.003 -0.922 0.452 T 0.000 0.000 T . . . -1.031 0.031 0.014 0.542 0.050 0.073 0.132 N c -1.226 -1.376 0.345 0.196 0.609 0.349 0 -4.69 0.030 -1.026 0.037 -1.016 0.021 0.000 0.063 0.000 0.016 5.731 0.172 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000196917.4 Thyroid 0.5022 0.5056 0.3896 0.5740 0.5354 0.5059 0.5725 0.5221 0.3208 0.5397 0.5021 0.4222 0.5530 0.5447 0.5092 0.5772 0.4969 het 1985.70 129 12 123200768 . T G 1985.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.220;DP=129;Dels=0.00;FS=0.666;HRun=1;HaplotypeScore=4.3028;MQ=55.22;MQ0=0;MQRankSum=2.113;QD=15.39;ReadPosRankSum=1.573;VQSLOD=2.3399;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,69:129:99:2016,0,1600 12 123333065 123333065 C T exonic HIP1R synonymous SNV HIP1R:NM_001303097:exon3:c.C210T:p.Y70Y,HIP1R:NM_001303099:exon3:c.C174T:p.Y58Y,HIP1R:NM_003959:exon3:c.C210T:p.Y70Y 0.78 0.73 0.92 0.75 0.86 0.69 0.8376 0.7629 0.9146 0.7394 0.8148 0.8806 0.8370 0.7176 0.85 0.77 0.89 0.84 0.86 rs2135014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8428 0.7592 0.9196 0.8788 0.7374 0.8142 0.8836 0.8636 0.7175 0.8333 0.7646 0.9081 0.8576 0.7228 0.8147 0.8833 0.8551 hom 4201.23 137 12 123333065 . C T 4201.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.552;DP=137;Dels=0.00;FS=5.295;HRun=0;HaplotypeScore=1.8633;MQ=59.70;MQ0=0;MQRankSum=-1.706;QD=30.67;ReadPosRankSum=0.475;VQSLOD=4.1652;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,135:137:99:4170,309,0 12 123345736 123345736 C G exonic HIP1R synonymous SNV HIP1R:NM_003959:exon30:c.C2949G:p.T983T 0.89 0.76 0.96 0.99 0.94 0.85 0.9225 0.7850 0.9709 0.9895 0.9503 0.9439 0.9404 0.8408 0.9 0.8 0.95 0.86 0.93 rs10847910 COSM4146773 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9286 0.7818 0.9710 0.9364 0.9884 0.9514 0.9453 0.9385 0.8404 0.9056 0.7834 0.9541 0.9467 0.9851 0.9518 0.9507 0.9479 hom 4378.89 139 12 123345736 . C G 4378.89 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9846;MQ=58.45;MQ0=0;QD=31.50;VQSLOD=7.9065;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,138:139:99:4378,352,0 12 123645803 123645803 G A exonic MPHOSPH9 synonymous SNV MPHOSPH9:NM_022782:exon22:c.C3261T:p.Y1087Y 0.63 0.14 0.73 0.98 0.77 0.74 0.7332 0.2377 0.7226 0.9752 0.8096 0.7744 0.7566 0.7275 0.61 0.26 0.79 0.55 0.7 rs1051431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7423 0.2314 0.7250 0.6892 0.9738 0.8069 0.7771 0.7516 0.7273 0.6485 0.2497 0.7160 0.6589 0.9760 0.8144 0.7939 0.7745 hom 4022.20 129 12 123645803 . G A 4022.20 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9755;MQ=58.60;MQ0=0;QD=31.18;VQSLOD=8.9307;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4022,313,0 12 123664514 123664514 G A exonic MPHOSPH9 synonymous SNV MPHOSPH9:NM_022782:exon15:c.C2313T:p.N771N 0.39 0.023 0.42 0.69 0.4 0.57 0.4201 0.0775 0.4221 0.6825 0.4150 0.4006 0.4129 0.5511 0.28 0.08 0.38 0.39 0.22 rs1727301 COSM3753013;COSM3753014 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3831 0.0625 0.3826 0.3989 0.6630 0.3960 0.3619 0.3758 0.5204 0.3088 0.0713 0.4163 0.3808 0.6795 0.3950 0.3732 0.4080 het 685.07 60 12 123664514 . G A 685.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.149;DP=60;Dels=0.00;FS=3.586;HRun=0;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;MQRankSum=-0.541;QD=11.42;ReadPosRankSum=0.793;VQSLOD=6.1167;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,28:60:99:715,0,805 12 123799974 123799974 A G exonic SBNO1 synonymous SNV SBNO1:NM_001167856:exon23:c.T3066C:p.G1022G,SBNO1:NM_018183:exon23:c.T3063C:p.G1021G 0.69 0.45 0.69 0.95 0.72 0.68 0.7088 0.4848 0.6589 0.9631 0.6903 0.7313 0.7274 0.6673 0.66 0.49 0.75 0.63 0.74 rs6488868 COSM4146784 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7094 0.4791 0.6667 0.6921 0.9628 0.6837 0.7329 0.7235 0.6647 0.6736 0.4945 0.6615 0.6722 0.9660 0.6916 0.7386 0.7337 hom 3180.13 113 12 123799974 . A G 3180.13 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.169;DP=113;Dels=0.00;FS=3.378;HRun=0;HaplotypeScore=0.9867;MQ=59.78;MQ0=0;MQRankSum=-1.456;QD=28.14;ReadPosRankSum=-0.720;VQSLOD=3.9470;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,112:113:99:3213,218,0 12 123810873 123810873 G A exonic SBNO1 synonymous SNV SBNO1:NM_001167856:exon14:c.C1701T:p.I567I,SBNO1:NM_018183:exon14:c.C1698T:p.I566I 0.49 0.057 0.58 0.7 0.66 0.63 0.6166 0.1374 0.5712 0.7092 0.6598 0.6816 0.6476 0.6204 0.51 0.16 0.69 0.48 0.52 rs61388686 COSM4417704 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6235 0.1335 0.5809 0.6324 0.7097 0.6559 0.6840 0.6469 0.6139 0.5312 0.1471 0.5707 0.6126 0.7026 0.6637 0.6924 0.6663 hom 6149.95 194 12 123810873 . G A 6149.95 Mask AC=2;AF=1.00;AN=2;DP=194;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7258;MQ=59.88;MQ0=0;QD=31.70;VQSLOD=8.4565;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:6149,478,0 12 124008073 124008073 A G exonic RILPL1 synonymous SNV RILPL1:NM_001319243:exon2:c.T429C:p.N143N,RILPL1:NM_178314:exon2:c.T429C:p.N143N 0.82 0.67 0.88 0.91 0.86 0.84 0.8481 0.6686 0.9236 0.9069 0.9114 0.8479 0.8697 0.8456 0.79 0.68 0.84 0.73 . rs2292500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8531 0.6609 0.9159 0.8299 0.9098 0.9095 0.8449 0.8533 0.8450 0.7998 0.6583 0.9045 0.8212 0.9099 0.9016 0.8362 0.8599 het 2296.19 188 12 124008073 . A G 2296.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.559;DP=188;Dels=0.00;FS=1.138;HRun=0;HaplotypeScore=1.7333;MQ=58.96;MQ0=0;MQRankSum=-1.293;QD=12.21;ReadPosRankSum=-1.239;VQSLOD=5.5150;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,91:188:99:2326,0,2446 12 124069213 124069213 T C exonic TMED2 synonymous SNV TMED2:NM_001321445:exon1:c.T30C:p.L10L,TMED2:NM_006815:exon1:c.T30C:p.L10L 0.99 0.96 0.99 1. 1. 1. 0.9967 0.9637 0.9977 1 1 1.0000 1 1 0.99 0.96 1. 0.95 1. rs786446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9975 0.9650 0.9981 1 1 1 1.0000 0.9991 1.0000 0.9882 0.9596 0.9928 1 1 1 0.9999 0.9939 hom 1841.46 58 12 124069213 . T C 1841.46 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3168;MQ=58.44;MQ0=0;QD=31.75;VQSLOD=8.6265;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1874,147,0 12 124097766 124097766 A G exonic DDX55 nonsynonymous SNV DDX55:NM_020936:exon8:c.A791G:p.N264S 0.15 0.36 0.098 0.03 0.12 0.068 0.1187 0.3432 0.0647 0.0261 0.0803 0.1198 0.0815 0.0767 0.2 0.33 0.13 0.13 0.082 rs11057306 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.523 N 0.952 0.264 P -0.295 0.036 N 3.6 0.921 T 0.63 0.025 N 0.063 0.048 -1.073 0.088 T 0.000 0.000 T . . . 0.090 0.102 3.506 0.860 0.157 0.962 0.679 D c -0.626 -0.393 0.988 0.313 0.719 0.830 0 3.52 0.393 3.720 0.544 0.237 0.263 0.999 0.424 0.934 0.407 9.534 0.382 Helicase\x2c C-terminal|P-loop containing nucleoside triphosphate hydrolase;P-loop containing nucleoside triphosphate hydrolase ENSG00000111364.11|ENSG00000168778.7|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000247373.2|ENSG00000247373.2|ENSG00000247373.2|ENSG00000247373.2|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000168778.7|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000168778.7|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2|ENSG00000111364.11|ENSG00000168778.7|ENSG00000247373.2|ENSG00000247373.2|ENSG00000247373.2|ENSG00000111364.11|ENSG00000247373.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.1140 0.3470 0.0726 0.0912 0.0258 0.0811 0.1265 0.1138 0.0789 0.1822 0.3416 0.0919 0.0927 0.0284 0.0894 0.1392 0.1143 het 1188.70 107 12 124097766 . A G 1188.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.629;DP=107;Dels=0.00;FS=2.522;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.518;QD=11.11;ReadPosRankSum=1.720;VQSLOD=6.1179;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,51:107:99:1219,0,1343 12 124144395 124144395 A G exonic GTF2H3 synonymous SNV GTF2H3:NM_001271866:exon9:c.A609G:p.P203P,GTF2H3:NM_001271867:exon10:c.A615G:p.P205P,GTF2H3:NM_001271868:exon10:c.A300G:p.P100P,GTF2H3:NM_001516:exon11:c.A738G:p.P246P 0.35 0.61 0.3 0.061 0.38 0.3 0.3648 0.5951 0.2328 0.0632 0.3101 0.3963 0.3469 0.3658 0.47 0.59 0.4 0.3 0.37 rs1051793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3551 0.6000 0.2468 0.3425 0.0632 0.3142 0.4040 0.3688 0.3685 0.4285 0.6014 0.2993 0.3377 0.0692 0.3079 0.409 0.3520 het 1781.90 143 12 124144395 . A G 1781.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.622;DP=143;Dels=0.00;FS=3.123;HRun=1;HaplotypeScore=6.7755;MQ=59.57;MQ0=0;MQRankSum=2.203;QD=12.46;ReadPosRankSum=-1.117;VQSLOD=3.7223;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,75:143:99:1812,0,1707 12 124179417 124179417 T C exonic TCTN2 synonymous SNV TCTN2:NM_001143850:exon10:c.T1125C:p.P375P,TCTN2:NM_024809:exon10:c.T1128C:p.P376P 0.48 0.87 0.37 0.15 0.42 0.44 0.4387 0.8323 0.2587 0.1561 0.3491 0.4441 0.3899 0.4846 0.57 0.82 0.45 0.46 0.48 rs7966867 . . other|Benign|Benign not_specified|Joubert_syndrome|Meckel-Gruber_syndrome RCV000114225.4|RCV000349609.1|RCV000402397.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0431399:ORPHA475:253175003:716997004|C0265215:ORPHA564:29076005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4233 0.8365 0.2752 0.3987 0.1538 0.3590 0.4501 0.4283 0.4873 0.5294 0.8303 0.3210 0.3974 0.1599 0.3472 0.4581 0.4206 het 1182.30 85 12 124179417 . T C 1182.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.355;DP=85;Dels=0.00;FS=2.866;HRun=4;HaplotypeScore=1.9931;MQ=59.56;MQ0=0;MQRankSum=-0.128;QD=13.91;ReadPosRankSum=-0.277;VQSLOD=6.6903;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1212,0,928 12 124209332 124209332 T C exonic ATP6V0A2 synonymous SNV ATP6V0A2:NM_012463:exon4:c.T426C:p.N142N 0.75 0.7 0.77 0.95 0.63 0.72 0.6792 0.6889 0.8091 0.9453 0.6816 0.6230 0.6795 0.6688 0.65 0.68 0.63 0.77 0.59 rs1139789 COSM3753015 1(large_intestine) Benign|Benign not_specified|Cutis_laxa\x2c_recessive RCV000081551.7|RCV000394212.1 MedGen|MedGen CN169374|C2931134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6857 0.6892 0.8033 0.6556 0.9469 0.6735 0.6214 0.6642 0.6649 0.6611 0.6735 0.7698 0.66 0.9433 0.6757 0.6129 0.6763 het 1851.22 163 12 124209332 . T C 1851.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.899;DP=163;DS;Dels=0.00;FS=8.673;HRun=0;HaplotypeScore=2.7811;MQ=59.33;MQ0=1;MQRankSum=0.047;QD=11.36;ReadPosRankSum=-0.003;VQSLOD=4.6299;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,75:163:99:1881,0,2309 12 124210782 124210782 T C exonic ATP6V0A2 synonymous SNV ATP6V0A2:NM_012463:exon5:c.T471C:p.S157S 0.75 0.7 0.77 0.95 0.62 0.72 0.6756 0.6879 0.8078 0.9453 0.6791 0.6172 0.6729 0.6687 0.64 0.68 0.62 0.78 0.63 rs1399961 COSM3753016 2(skin);1(large_intestine) Benign|Benign not_specified|Cutis_laxa\x2c_recessive RCV000081553.6|RCV000369580.1 MedGen|MedGen CN169374|C2931134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6822 0.6884 0.8019 0.6560 0.9469 0.6713 0.6149 0.6614 0.6648 0.6604 0.6766 0.7673 0.66 0.9443 0.6725 0.6106 0.6741 het 1151.43 103 12 124210782 . T C 1151.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.214;DP=103;Dels=0.00;FS=1.693;HRun=0;HaplotypeScore=0.8667;MQ=59.41;MQ0=0;MQRankSum=-0.610;QD=11.18;ReadPosRankSum=-0.069;VQSLOD=6.7175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1181,0,1216 12 124229429 124229429 T C exonic ATP6V0A2 synonymous SNV ATP6V0A2:NM_012463:exon13:c.T1515C:p.N505N 0.8 0.88 0.79 0.95 0.63 0.72 0.6934 0.8343 0.8156 0.9485 0.6814 0.6244 0.6806 0.6697 0.7 0.82 0.63 0.85 0.62 rs7135542 COSM1127520 5(prostate);1(large_intestine) Benign|Benign not_specified|Cutis_laxa\x2c_recessive RCV000081547.6|RCV000374481.1 MedGen|MedGen CN169374|C2931134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6970 0.8377 0.8099 0.6634 0.9494 0.6736 0.6224 0.6701 0.6659 0.7082 0.8311 0.7816 0.6755 0.9445 0.6751 0.6165 0.6884 het 1969.42 172 12 124229429 . T C 1969.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.165;DP=172;Dels=0.00;FS=0.582;HRun=0;HaplotypeScore=0.8941;MQ=59.46;MQ0=0;MQRankSum=-0.319;QD=11.45;ReadPosRankSum=0.771;VQSLOD=6.6810;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:99,73:172:99:1999,0,2395 12 124267703 124267703 T C exonic DNAH10 synonymous SNV DNAH10:NM_207437:exon7:c.T708C:p.S236S 0.8 0.83 0.73 1. 0.65 0.77 0.6702 0.7873 0.7315 0.9992 0.6147 0.5986 0.6674 0.6930 0.67 0.79 0.6 0.85 0.66 rs11057355 . . Benign not_specified RCV000455998.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6715 0.7880 0.7314 0.6964 0.9988 0.6056 0.5929 0.6388 0.6958 0.6738 0.7816 0.7041 0.7133 0.9969 0.6027 0.5932 0.6263 het 1450.78 132 12 124267703 . T C 1450.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.953;DP=132;Dels=0.00;FS=3.318;HRun=1;HaplotypeScore=0.9332;MQ=59.15;MQ0=0;MQRankSum=-1.571;QD=10.99;ReadPosRankSum=-1.656;VQSLOD=5.2460;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,60:132:99:1481,0,2049 12 124274474 124274474 A G exonic DNAH10 nonsynonymous SNV DNAH10:NM_207437:exon11:c.A1438G:p.I480V 0.84 0.88 0.77 1. 0.71 0.79 0.7294 0.8489 0.7632 0.9994 0.6863 0.6746 0.7230 0.7275 0.73 0.85 0.67 0.91 0.7 rs10846559 . . Benign not_specified RCV000454996.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.097 0.200 N 1.000 0.200 P -1.91 0.002 N 0.54 0.549 T 0.67 0.023 N 0.007 0.002 -0.960 0.392 T 0.000 0.000 T . . . -0.659 0.047 0.090 0.316 0.018 0.102 0.156 N c -0.670 -0.402 0.001 0.081 0.428 0.059 0 5.2 0.716 3.433 0.523 0.125 0.212 1.000 0.715 0.424 0.258 12.349 0.543 Dynein heavy chain\x2c domain-1 ENSG00000168778.7|ENSG00000185344.9|ENSG00000168778.7|ENSG00000185344.9|ENSG00000168778.7|ENSG00000168778.7|ENSG00000168778.7|ENSG00000168778.7|ENSG00000185344.9|ENSG00000168778.7|ENSG00000168778.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7272 0.8492 0.7665 0.7330 0.9990 0.6753 0.6672 0.7072 0.7266 0.7420 0.8517 0.7506 0.7517 0.9963 0.6857 0.6645 0.7173 het 869.50 61 12 124274474 . A G 869.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.744;DP=61;Dels=0.00;FS=2.856;HRun=1;HaplotypeScore=1.4450;MQ=59.31;MQ0=0;MQRankSum=0.327;QD=14.25;ReadPosRankSum=1.367;VQSLOD=6.4822;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,34:61:99:899,0,716 12 124325977 124325977 T G exonic DNAH10 nonsynonymous SNV DNAH10:NM_207437:exon29:c.T4891G:p.L1631V 0.79 0.97 0.84 0.53 0.89 0.65 0.8344 0.9562 0.8332 0.5026 0.8895 0.8844 0.8497 0.7111 0.92 0.96 0.9 0.84 . rs4930729 . . Benign not_specified RCV000455437.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.023 0.264 N 1 0.090 P -2.375 0.001 N 0.55 0.547 T 2.52 0.002 N 0.032 0.032 -0.864 0.510 T 0.000 0.000 T . . . -2.549 0.003 0.001 0.113 0.002 0.007 0.030 N c -2.025 -1.957 0.081 0.159 0.497 0.185 0 -5.3 0.025 -0.283 0.084 -0.622 0.043 0.000 0.063 0.482 0.268 15.931 0.794 Dynein heavy chain\x2c domain-2 . . 0.8337 0.9581 0.8324 0.9134 0.4969 0.8793 0.8841 0.8624 0.7154 0.8781 0.9502 0.8449 0.9073 0.4932 0.8884 0.8789 0.8425 hom 7538.60 233 12 124325977 . T G 7538.60 Mask AC=2;AF=1.00;AN=2;DP=233;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9650;MQ=59.25;MQ0=0;QD=32.35;VQSLOD=7.7572;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,233:233:99:7538,599,0 12 124387574 124387574 G A exonic DNAH10 synonymous SNV DNAH10:NM_207437:exon56:c.G9375A:p.E3125E 0.34 0.53 0.29 0.28 0.25 0.25 0.3055 0.5113 0.3481 0.3283 0.2922 0.2721 0.2915 0.2783 0.3 0.46 0.22 0.47 . rs58411567 COSM3998693;COSM3998692 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000455542.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2461 0.4824 0.2538 0.2067 0.2542 0.2244 0.2221 0.2474 0.2369 0.3015 0.4797 0.2650 0.2219 0.2419 0.2450 0.2253 0.2444 het 510.68 27 12 124387574 . G A 510.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.558;DP=27;Dels=0.00;FS=1.657;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.611;QD=18.91;ReadPosRankSum=0.876;VQSLOD=4.8080;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,19:27:99:541,0,201 12 124387586 124387586 A G exonic DNAH10 synonymous SNV DNAH10:NM_207437:exon56:c.A9387G:p.A3129A 0.36 0.61 0.3 0.28 0.25 0.25 0.3009 0.5724 0.3256 0.3104 0.2917 0.2611 0.2821 0.2724 0.32 0.52 0.22 0.47 . rs61587964 COSM3998694;COSM3998695 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000454450.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2519 0.5544 0.2567 0.2163 0.2539 0.2316 0.2222 0.2509 0.2354 0.3219 0.5459 0.2722 0.2318 0.2428 0.2519 0.2263 0.2515 het 487.43 31 12 124387586 . A G 487.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.529;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.162;QD=15.72;ReadPosRankSum=0.148;VQSLOD=12.2655;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,21:31:99:517,0,273 12 124417889 124417889 C T exonic DNAH10 synonymous SNV DNAH10:NM_207437:exon76:c.C12954T:p.S4318S 0.26 0.31 0.32 0.12 0.35 0.2 0.3741 0.3974 0.3447 0.1993 0.3695 0.4041 0.3759 0.3174 0.31 0.31 0.31 0.34 . rs4930721 . . Benign not_specified RCV000454494.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2765 0.3148 0.2371 0.3504 0.1148 0.2700 0.3203 0.2975 0.2079 0.2974 0.3226 0.2590 0.36 0.1139 0.2981 0.3032 0.2965 het 305.21 26 12 124417889 . C T 305.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.122;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=60.00;MQ0=0;MQRankSum=-0.794;QD=11.74;ReadPosRankSum=1.177;VQSLOD=5.9994;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,14:26:99:335,0,240 12 124427306 124427306 T A exonic CCDC92 nonsynonymous SNV CCDC92:NM_001304961:exon3:c.A157T:p.S53C,CCDC92:NM_001304957:exon4:c.A208T:p.S70C,CCDC92:NM_001304959:exon4:c.A208T:p.S70C,CCDC92:NM_025140:exon4:c.A208T:p.S70C,CCDC92:NM_001304958:exon5:c.A208T:p.S70C,CCDC92:NM_001304960:exon6:c.A208T:p.S70C 0.25 0.31 0.32 0.079 0.35 0.2 0.2797 0.3196 0.2359 0.0810 0.2811 0.3252 0.2815 0.2050 0.31 0.32 0.31 0.32 0.39 rs11057401 COSM1359878 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.005 0.682 D 1.0 0.899 D 0.971 0.708 D 0.001 0.424 D 0.000 0.588 P 2.77 0.812 M 0.86 0.468 T -2.44 0.550 N 0.178 0.327 -1.056 0.128 T 0.000 0.000 T . . . 5.625 0.766 26.6 0.992 0.548 0.980 0.788 D c 0.452 0.368 1.000 0.747 0.507 0.198 0 3.44 0.383 3.005 0.490 1.058 0.762 1.000 0.715 0.993 0.574 9.493 0.379 . ENSG00000270005.1|ENSG00000119242.4|ENSG00000119242.4|ENSG00000119242.4|ENSG00000270028.1|ENSG00000119242.4|ENSG00000179195.11|ENSG00000119242.4|ENSG00000270028.1|ENSG00000119242.4|ENSG00000197653.10|ENSG00000179195.11|ENSG00000119242.4|ENSG00000270028.1|ENSG00000179195.11|ENSG00000119242.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Thyroid|Thyroid 0.2748 0.3247 0.2389 0.3482 0.0796 0.2722 0.3216 0.2961 0.2035 0.2953 0.3238 0.2590 0.3609 0.0748 0.2981 0.3031 0.2888 het 2703.85 176 12 124427306 . T A 2703.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.377;DP=176;Dels=0.00;FS=4.642;HRun=0;HaplotypeScore=3.5507;MQ=59.44;MQ0=0;MQRankSum=-0.751;QD=15.36;ReadPosRankSum=-1.248;VQSLOD=5.0344;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,111:176:99:2734,0,1643 12 124826598 124826598 T C exonic NCOR2 synonymous SNV NCOR2:NM_001077261:exon35:c.A4929G:p.R1643R,NCOR2:NM_001206654:exon35:c.A4929G:p.R1643R,NCOR2:NM_006312:exon36:c.A4959G:p.R1653R 0.19 0.32 0.081 0.38 0.041 0.037 0.1100 0.2906 0.0921 0.3967 0.1494 0.0638 0.0938 0.0366 0.13 0.27 0.062 0.24 0.041 rs2230942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1068 0.2910 0.0856 0.0425 0.3910 0.1410 0.0633 0.0860 0.0353 0.1582 0.2704 0.0871 0.0298 0.4159 0.1414 0.0783 0.1194 het 559.24 36 12 124826598 . T C 559.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.613;DP=36;Dels=0.00;FS=3.703;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.684;QD=15.53;ReadPosRankSum=2.626;VQSLOD=4.4373;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,20:36:99:589,0,438 12 124856618 124856618 A G exonic NCOR2 synonymous SNV NCOR2:NM_001077261:exon21:c.T2703C:p.A901A,NCOR2:NM_001206654:exon21:c.T2703C:p.A901A,NCOR2:NM_006312:exon22:c.T2757C:p.A919A 0.32 0.47 0.27 0.084 0.34 0.35 0.3161 0.4393 0.2312 0.0544 0.3754 0.3375 0.3056 0.3328 0.36 0.42 0.33 0.34 0.38 rs7961196 COSM430660;COSM430659 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3039 0.4423 0.2277 0.2864 0.0562 0.3743 0.3328 0.3105 0.3223 0.3629 0.4393 0.2751 0.2715 0.0501 0.3727 0.3554 0.3809 het 1360.21 105 12 124856618 . A G 1360.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.224;DP=105;Dels=0.00;FS=2.589;HRun=1;HaplotypeScore=9.1438;MQ=59.60;MQ0=0;MQRankSum=1.369;QD=12.95;ReadPosRankSum=-0.100;VQSLOD=4.4242;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,47:105:99:1390,0,1435 12 124856660 124856660 T A exonic NCOR2 synonymous SNV NCOR2:NM_001077261:exon21:c.A2661T:p.T887T,NCOR2:NM_001206654:exon21:c.A2661T:p.T887T,NCOR2:NM_006312:exon22:c.A2715T:p.T905T 0.39 0.25 0.59 0.17 0.58 0.44 0.5358 0.3298 0.6308 0.1977 0.5423 0.6012 0.5483 0.4968 0.53 0.36 0.61 0.39 0.52 rs3741513 COSM4146803;COSM4146802 1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5404 0.3177 0.6289 0.6356 0.1906 0.5397 0.6037 0.5516 0.4973 0.4841 0.3250 0.5931 0.6433 0.1803 0.5487 0.5825 0.5224 het 1440.55 101 12 124856660 . T A 1440.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.234;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3100;MQ=58.73;MQ0=0;MQRankSum=0.752;QD=14.26;ReadPosRankSum=-0.193;VQSLOD=5.1401;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,57:101:99:1471,0,1239 12 124856830 124856830 C T exonic NCOR2 nonsynonymous SNV NCOR2:NM_001077261:exon21:c.G2491A:p.E831K,NCOR2:NM_001206654:exon21:c.G2491A:p.E831K,NCOR2:NM_006312:exon22:c.G2545A:p.E849K 0.0042 . 0.01 . 0.013 0.001 0.0183 0.0039 0.0111 0 0.0298 0.0254 0.0235 0.0031 0.02 0.0038 0.027 . 0.041 rs142292731 . . . . . . . . . . . . . 0.145 0.252 T 0.0 0.026 B 0.001 0.063 B 0.238 0.158 N 1.000 0.197 N 0.69 0.170 N 1.48 0.317 T -1.48 0.391 N 0.031 0.374 -1.036 0.187 T 0.014 0.056 T . . . 1.234 0.214 11.93 0.792 0.122 0.582 0.303 D c -1.045 -1.032 1.000 0.747 0.672 0.522 0 0.655 0.169 1.996 0.402 -0.531 0.049 0.030 0.202 0.000 0.016 4.056 0.092 . . . 0.0166 0.0043 0.0095 0.0086 0 0.0273 0.0257 0.0220 0.0027 0.0229 0.0038 0.0143 0.0066 0 0.0284 0.0350 0.0378 het 788.91 70 12 124856830 . C T 788.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.543;DP=70;Dels=0.00;FS=0.977;HRun=1;HaplotypeScore=1.9318;MQ=57.71;MQ0=0;MQRankSum=0.124;QD=11.27;ReadPosRankSum=-1.515;VQSLOD=3.1148;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,32:70:99:819,0,979 12 124857033 124857033 C T exonic NCOR2 nonsynonymous SNV NCOR2:NM_001077261:exon21:c.G2288A:p.G763E,NCOR2:NM_001206654:exon21:c.G2288A:p.G763E,NCOR2:NM_006312:exon22:c.G2342A:p.G781E 0.081 0.083 0.15 . 0.12 0.067 0.1326 0.0992 0.1429 0 0.1645 0.1546 0.1282 0.1104 0.12 0.073 0.14 0.054 0.098 rs7978237 COSM3753023;COSM3753022 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.93 0.506 T 0.0 0.026 B 0.0 0.013 B 0.548 0.115 N 1 0.090 P -1.1 0.010 N 2.39 0.389 T 1.35 0.009 N 0.024 0.271 -1.030 0.203 T 0.000 0.001 T . . . -0.546 0.053 0.169 0.446 0.034 0.006 0.026 N c -1.479 -1.477 0.993 0.330 0.672 0.522 0 -0.616 0.110 0.679 0.248 0.040 0.155 0.004 0.165 0.004 0.083 2.161 0.036 . . . 0.1181 0.0879 0.1334 0.1413 0 0.1502 0.1410 0.1310 0.0834 0.1204 0.0788 0.1199 0.14 0 0.1481 0.1490 0.1599 het 413.17 40 12 124857033 . C T 413.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.823;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6643;MQ=58.48;MQ0=0;MQRankSum=1.313;QD=10.33;ReadPosRankSum=1.285;VQSLOD=5.0401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,15:40:99:443,0,738 12 125284748 125284748 A G exonic SCARB1 synonymous SNV SCARB1:NM_001082959:exon8:c.T1050C:p.A350A,SCARB1:NM_005505:exon8:c.T1050C:p.A350A 0.68 0.83 0.67 0.76 0.54 0.53 0.5852 0.8123 0.6936 0.7465 0.6037 0.5217 0.5962 0.5309 0.62 0.82 0.52 0.75 0.56 rs5888 COSM3753029;COSM3753027;COSM4146804;COSM3753028 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5866 0.8168 0.6857 0.4284 0.7517 0.5988 0.5274 0.5611 0.5324 0.6374 0.8119 0.6914 0.4503 0.7410 0.6050 0.5377 0.5603 hom 2088.13 71 12 125284748 . A G 2088.13 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9895;MQ=58.94;MQ0=0;QD=29.41;VQSLOD=8.7160;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:71:99:2121,171,0 12 125398039 125398039 G C exonic UBC synonymous SNV UBC:NM_021009:exon2:c.C279G:p.V93V 0.46 0.18 0.55 0.22 0.78 0.72 0.6587 0.2545 0.5404 0.2166 0.6439 0.7794 0.7148 0.7426 0.61 0.27 0.79 0.35 0.75 rs1071862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6606 0.2478 0.5456 0.7434 0.2218 0.6478 0.7903 0.6864 0.7426 0.5921 0.2792 0.5707 0.7483 0.2336 0.6485 0.7824 0.6912 hom 8208.91 243 12 125398039 . G C 8208.91 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.689;DP=243;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1662;MQ=53.39;MQ0=0;MQRankSum=1.473;QD=33.78;ReadPosRankSum=1.574;VQSLOD=3.3588;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,241:243:99:8208,662,0 12 125453115 125453115 C T exonic DHX37 nonsynonymous SNV DHX37:NM_032656:exon10:c.G1373A:p.R458Q 0.054 0.0076 0.099 . 0.16 0.032 0.1094 0.0235 0.0675 0.0001 0.1672 0.1538 0.1441 0.0454 0.11 0.027 0.16 0.065 0.074 rs11057939 . . . . . . . . . . . . . 0.052 0.430 T 0.794 0.428 P 0.154 0.327 B 0.000 0.537 D 0.000 0.524 P 2.465 0.718 M 2.58 0.134 T -2.53 0.548 D 0.129 0.445 -1.007 0.278 T 0.000 0.000 T . . . 4.680 0.627 24.6 0.999 0.977 0.809 0.401 D c 0.277 0.332 0.881 0.256 0.707 0.730 0 4.6 0.564 4.368 0.590 0.852 0.362 1.000 0.715 1.000 0.888 17.377 0.872 P-loop containing nucleoside triphosphate hydrolase ENSG00000150990.3 Cells_Transformed_fibroblasts 0.1101 0.0228 0.0740 0.1259 0.0003 0.1672 0.1541 0.1256 0.0464 0.1082 0.0255 0.0883 0.0762 0.0006 0.1764 0.1506 0.1564 het 4266.62 249 12 125453115 . C T 4266.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.894;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0405;MQ=58.92;MQ0=0;MQRankSum=0.569;QD=17.14;ReadPosRankSum=-0.395;VQSLOD=5.1708;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,131:249:99:3637,0,2999 12 125834095 125834095 C A exonic TMEM132B synonymous SNV TMEM132B:NM_052907:exon2:c.C150A:p.S50S 0.27 0.18 0.35 0.27 0.3 0.32 0.2979 0.2129 0.4178 0.2493 0.2156 0.3019 0.2767 0.3075 0.27 0.2 0.29 0.21 0.28 rs1491893 COSM3753032 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3019 0.2097 0.4102 0.2891 0.2548 0.2144 0.3045 0.3076 0.3130 0.2565 0.2095 0.3914 0.2550 0.2494 0.2015 0.2893 0.2669 het 2021.60 208 12 125834095 . C A 2021.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.706;DP=208;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8654;MQ=59.42;MQ0=0;MQRankSum=-0.653;QD=9.72;ReadPosRankSum=0.575;VQSLOD=4.7142;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:124,84:208:99:2052,0,3326 12 125834395 125834395 T C exonic TMEM132B synonymous SNV TMEM132B:NM_052907:exon2:c.T450C:p.S150S 0.66 0.32 0.81 0.81 0.74 0.79 0.7481 0.3994 0.8702 0.8199 0.8079 0.7508 0.7956 0.7943 0.65 0.44 0.75 0.62 0.75 rs3803155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7584 0.3966 0.8578 0.7728 0.8166 0.8083 0.7464 0.7631 0.7987 0.6651 0.4067 0.8067 0.7616 0.7953 0.8040 0.7536 0.7434 hom 5516.95 190 12 125834395 . T C 5516.95 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2452;MQ=59.46;MQ0=0;QD=29.04;VQSLOD=8.1081;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5516,448,0 12 126068417 126068417 T C exonic TMEM132B synonymous SNV TMEM132B:NM_052907:exon5:c.T1299C:p.T433T 0.92 0.94 0.96 0.96 0.93 0.82 0.9258 0.9307 0.9529 0.9575 0.9276 0.9375 0.91 0.8403 0.94 0.93 0.94 0.9 0.93 rs6489006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9286 0.9296 0.9532 0.9692 0.9590 0.9265 0.9368 0.9370 0.8418 0.9376 0.9362 0.9606 0.9570 0.9604 0.9307 0.9359 0.9379 hom 7972.98 249 12 126068417 . T C 7972.98 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.5093;MQ=58.33;MQ0=0;QD=32.02;VQSLOD=5.0263;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:249:99:7972,662,0 12 129278864 129278864 A G exonic SLC15A4 synonymous SNV SLC15A4:NM_145648:exon8:c.T1611C:p.F537F 0.47 0.48 0.54 0.43 0.42 0.48 0.4342 0.4635 0.6241 0.4406 0.4392 0.3904 0.4130 0.4552 0.41 0.48 0.38 0.46 0.31 rs1059312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4398 0.4670 0.6164 0.3300 0.4363 0.4273 0.3928 0.4306 0.4531 0.4256 0.4707 0.6062 0.3179 0.4251 0.4379 0.3886 0.4255 het 1445.85 119 12 129278864 . A G 1445.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.151;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4346;MQ=58.91;MQ0=0;MQRankSum=1.666;QD=12.15;ReadPosRankSum=1.453;VQSLOD=4.6717;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,62:119:99:1476,0,1461 12 129293346 129293346 C T exonic SLC15A4 synonymous SNV SLC15A4:NM_145648:exon5:c.G1245A:p.S415S 0.47 0.44 0.36 0.59 0.44 0.48 0.4586 0.4324 0.3167 0.5801 0.3892 0.4708 0.4656 0.4881 0.45 0.42 0.47 0.52 0.49 rs11059924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4503 0.4307 0.3209 0.5211 0.5832 0.3875 0.4673 0.4528 0.4875 0.4497 0.4352 0.3229 0.5267 0.5912 0.3712 0.4668 0.4468 het 845.68 51 12 129293346 . C T 845.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.656;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.426;QD=16.58;ReadPosRankSum=-0.331;VQSLOD=12.5590;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,28:51:99:876,0,647 12 129360498 129360498 G A exonic GLT1D1 synonymous SNV GLT1D1:NM_144669:exon2:c.G108A:p.K36K 0.34 0.48 0.3 0.24 0.23 0.4 0.2623 0.4469 0.3697 0.2358 0.2312 0.1983 0.2621 0.3558 0.28 0.44 0.2 0.4 0.19 rs482401 COSM3753042;COSM3753043 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2613 0.4501 0.3601 0.2961 0.2319 0.2234 0.1893 0.2536 0.3554 0.2713 0.4315 0.3389 0.3311 0.2211 0.2352 0.1877 0.2612 het 3922.98 243 12 129360498 . G A 3922.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.681;DP=243;Dels=0.00;FS=0.471;HRun=2;HaplotypeScore=5.9599;MQ=59.22;MQ0=0;MQRankSum=-0.339;QD=16.14;ReadPosRankSum=-0.223;VQSLOD=4.8548;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,121:243:99:3311,0,3412 12 129559557 129559557 C T exonic TMEM132D synonymous SNV TMEM132D:NM_133448:exon9:c.G2163A:p.T721T 0.64 0.63 0.69 0.56 0.68 0.68 0.6687 0.6479 0.6464 0.5795 0.7064 0.6788 0.6773 0.6879 0.68 0.65 0.69 0.65 0.74 rs10773594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6713 0.6429 0.6513 0.7212 0.5749 0.6997 0.6820 0.6750 0.6861 0.6680 0.6481 0.6563 0.7483 0.5532 0.6986 0.6827 0.6855 hom 4806.69 161 12 129559557 . C T 4806.69 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.710;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7459;MQ=59.21;MQ0=0;MQRankSum=1.471;QD=29.86;ReadPosRankSum=-1.166;VQSLOD=8.5272;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,158:161:99:4806,382,0 12 129566406 129566406 C T exonic TMEM132D synonymous SNV TMEM132D:NM_133448:exon7:c.G1821A:p.T607T 0.1 0.033 0.079 0.18 0.11 0.11 0.0968 0.0443 0.0574 0.1660 0.0890 0.0996 0.1060 0.1123 0.078 0.044 0.095 0.054 0.074 rs79031518 COSM5008472;COSM5008471 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0966 0.0458 0.0658 0.1005 0.1639 0.0840 0.1001 0.1058 0.1113 0.0822 0.0497 0.0837 0.1159 0.1409 0.0785 0.0942 0.0911 het 1224.57 121 12 129566406 . C T 1224.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.694;DP=121;Dels=0.00;FS=0.697;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-0.070;QD=10.12;ReadPosRankSum=0.054;VQSLOD=5.8161;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,48:121:99:1255,0,1956 12 130912757 130912757 C T exonic RIMBP2 synonymous SNV RIMBP2:NM_015347:exon13:c.G2328A:p.R776R,RIMBP2:NM_001351227:exon14:c.G2379A:p.R793R,RIMBP2:NM_001351226:exon15:c.G2379A:p.R793R,RIMBP2:NM_001351228:exon15:c.G2379A:p.R793R,RIMBP2:NM_001351229:exon15:c.G2379A:p.R793R,RIMBP2:NM_001351230:exon15:c.G2379A:p.R793R,RIMBP2:NM_001351231:exon15:c.G2379A:p.R793R 0.29 0.21 0.34 0.41 0.17 0.35 0.2179 0.2203 0.4235 0.4268 0.1656 0.1386 0.2024 0.3057 0.16 0.21 0.13 0.3 0.098 rs2277356 COSM430736 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2239 0.2162 0.4149 0.1831 0.4335 0.1568 0.1338 0.2043 0.2975 0.1840 0.2167 0.3911 0.1589 0.4565 0.1549 0.1316 0.1813 het 1398.47 100 12 130912757 . C T 1398.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.689;DP=100;Dels=0.00;FS=1.862;HRun=0;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;MQRankSum=1.659;QD=13.98;ReadPosRankSum=0.700;VQSLOD=6.1061;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,52:100:99:1428,0,1320 12 131276448 131276448 G T exonic STX2 nonsynonymous SNV STX2:NM_001351049:exon10:c.C800A:p.P267H 0.98 0.91 1. 1. 1. 1. 0.9933 0.9286 0.9962 1 1 0.9997 0.9978 0.9999 0.97 0.93 1. 0.99 0.98 rs4759786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9276 0.9962 1 1 1 0.9997 0.9965 0.9998 0.9792 0.9275 0.9976 1 1 1 0.9997 0.9959 hom 5491.95 186 12 131276448 . G T 5491.95 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.61;MQ0=0;QD=29.53;VQSLOD=8.8041;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5491,421,0 12 131306314 131306314 C G exonic STX2 nonsynonymous SNV STX2:NM_001351049:exon3:c.G125C:p.S42T,STX2:NM_001351050:exon3:c.G125C:p.S42T,STX2:NM_001980:exon3:c.G125C:p.S42T,STX2:NM_194356:exon3:c.G125C:p.S42T 0.6 0.21 0.65 0.87 0.66 0.77 0.6484 0.2660 0.6791 0.8844 0.6977 0.6468 0.6619 0.7297 0.53 0.28 0.66 0.56 0.68 rs17564 . . . . . . . . . . . . . 0.442 0.092 T 0.332 0.328 B 0.076 0.366 B 0.164 0.176 N 1 0.090 P 1.7 0.440 L 2.28 0.173 T -0.69 0.208 N 0.243 0.297 -1.035 0.188 T 0.000 0.000 T . . . -0.820 0.039 0.039 0.386 0.026 0.043 0.097 N c -1.437 -1.478 1.000 0.473 0.732 0.924 0 -0.508 0.113 -0.056 0.116 -1.135 0.017 0.000 0.063 0.002 0.062 5.415 0.156 Syntaxin\x2c N-terminal domain|t-SNARE ENSG00000111450.9|ENSG00000256299.1|ENSG00000111450.9|ENSG00000256299.1|ENSG00000256299.1|ENSG00000256299.1|ENSG00000111450.9|ENSG00000256299.1|ENSG00000111450.9|ENSG00000256299.1|ENSG00000256299.1|ENSG00000256299.1|ENSG00000256299.1|ENSG00000256299.1|ENSG00000111450.9|ENSG00000256299.1|ENSG00000111450.9|ENSG00000111450.9|ENSG00000111450.9|ENSG00000111450.9|ENSG00000256299.1|ENSG00000111450.9|ENSG00000256299.1|ENSG00000256299.1|ENSG00000111450.9|ENSG00000111450.9|ENSG00000111450.9|ENSG00000256299.1|ENSG00000111450.9|ENSG00000111450.9|ENSG00000256299.1|ENSG00000111450.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Whole_Blood 0.6567 0.2646 0.6657 0.5908 0.8788 0.7016 0.6513 0.6440 0.7276 0.5613 0.2670 0.6325 0.5662 0.8798 0.6983 0.6557 0.6591 hom 2516.47 79 12 131306314 . C G 2516.47 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=31.85;VQSLOD=9.1232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2549,199,0 12 131311749 131311749 A C exonic STX2 nonsynonymous SNV STX2:NM_001351049:exon2:c.T94G:p.F32V,STX2:NM_001351050:exon2:c.T94G:p.F32V,STX2:NM_001980:exon2:c.T94G:p.F32V,STX2:NM_194356:exon2:c.T94G:p.F32V 0.005 0.0015 0.0043 . 0.017 0.0031 0.0145 0.0037 0.0048 0 0.0070 0.0232 0.0155 0.0039 0.019 0.0057 0.025 0.022 . rs137928907 . . . . . . . . . . . . . 0.0 0.912 D 0.993 0.637 D 0.941 0.659 D 0.000 0.843 D 1 0.810 D 3.43 0.922 M 1.63 0.280 T -4.81 0.826 D 0.538 0.576 -0.788 0.559 T 0.087 0.336 T . . . 4.761 0.639 24.7 0.988 0.461 0.961 0.671 D c 0.526 0.396 1.000 0.747 0.706 0.609 0 4.65 0.575 5.818 0.687 1.076 0.850 1.000 0.715 0.957 0.436 12.074 0.527 Syntaxin\x2c N-terminal domain|t-SNARE . . 0.0139 0.0038 0.0044 0.0006 0 0.0072 0.0257 0.0120 0.0041 0.0134 0.0055 0.0095 0 0 0.0066 0.0217 0.0112 het 1383.28 144 12 131311749 . A C 1383.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.098;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7760;MQ=57.55;MQ0=0;MQRankSum=1.977;QD=9.61;ReadPosRankSum=-0.886;VQSLOD=2.5871;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,63:144:99:1413,0,1897 12 131466562 131466562 T C exonic ADGRD1 synonymous SNV ADGRD1:NM_198827:exon5:c.T444C:p.Y148Y,ADGRD1:NM_001330497:exon6:c.T540C:p.Y180Y 0.93 0.76 0.99 0.99 0.99 0.99 0.9746 0.7756 0.9875 0.9970 0.9971 0.9939 0.9835 0.9922 0.92 0.78 1. 0.92 0.99 rs4759534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9796 0.7720 0.9872 0.9982 0.9971 0.9968 0.9943 0.9863 0.9918 0.9348 0.7820 0.9868 0.9967 0.9963 0.9971 0.9948 0.9868 hom 5479.68 166 12 131466562 . T C 5479.68 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8715;MQ=59.01;MQ0=0;QD=33.01;VQSLOD=9.4119;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5479,427,0 12 131620588 131620588 A G exonic ADGRD1 synonymous SNV ADGRD1:NM_198827:exon22:c.A2274G:p.T758T,ADGRD1:NM_001330497:exon23:c.A2370G:p.T790T 0.67 0.7 0.65 0.43 0.89 0.66 0.7763 0.7326 0.4936 0.4423 0.7561 0.8955 0.8415 0.6969 0.85 0.75 0.9 0.72 0.93 rs868158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7644 0.7325 0.5143 0.9196 0.4378 0.7586 0.8974 0.8156 0.6992 0.7999 0.7376 0.5899 0.9238 0.4459 0.7554 0.8928 0.8160 hom 2030.37 69 12 131620588 . A G 2030.37 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=29.43;VQSLOD=8.2805;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2063,168,0 12 131622735 131622735 T C exonic ADGRD1 synonymous SNV ADGRD1:NM_198827:exon24:c.T2490C:p.S830S,ADGRD1:NM_001330497:exon25:c.T2586C:p.S862S 0.66 0.35 0.74 0.93 0.65 0.78 0.6714 0.4050 0.8163 0.9228 0.7101 0.6334 0.6446 0.7450 0.56 0.42 0.63 0.42 0.56 rs7302341 COSM4146827 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6817 0.4004 0.8039 0.5711 0.9245 0.7084 0.6357 0.6421 0.7422 0.5973 0.4120 0.7524 0.6093 0.9258 0.7010 0.6327 0.6554 het 1545.79 136 12 131622735 . T C 1545.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.743;DP=136;Dels=0.00;FS=5.483;HRun=1;HaplotypeScore=2.9638;MQ=59.49;MQ0=0;MQRankSum=0.430;QD=11.37;ReadPosRankSum=-0.479;VQSLOD=5.5213;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,67:136:99:1576,0,1877 12 132237750 132237750 C T exonic SFSWAP synonymous SNV SFSWAP:NM_001261411:exon8:c.C1164T:p.D388D,SFSWAP:NM_004592:exon8:c.C1164T:p.D388D 0.1 0.0091 0.21 0.001 0.26 0.097 0.1960 0.0432 0.1455 0.0010 0.2132 0.2669 0.2037 0.1358 0.2 0.048 0.28 0.087 0.26 rs1051219 COSM4146832 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1978 0.0415 0.1500 0.2658 0.0009 0.2122 0.2697 0.2251 0.1397 0.1751 0.0490 0.1527 0.2318 0.0006 0.2046 0.2590 0.1977 het 2764.14 248 12 132237750 . C T 2764.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.872;DP=248;DS;Dels=0.00;FS=0.976;HRun=0;HaplotypeScore=3.4082;MQ=59.33;MQ0=0;MQRankSum=0.543;QD=11.15;ReadPosRankSum=1.013;VQSLOD=6.4008;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:137,111:248:99:2794,0,3607 12 132237848 132237848 T C exonic SFSWAP nonsynonymous SNV SFSWAP:NM_001261411:exon8:c.T1262C:p.L421P,SFSWAP:NM_004592:exon8:c.T1262C:p.L421P 0.93 0.78 0.98 0.99 0.98 0.98 0.9640 0.8176 0.9742 0.9935 0.9958 0.9766 0.9658 0.9704 0.93 0.83 0.98 0.89 0.86 rs1982528 . . . . . . . . . . . . . 1.0 0.055 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 0.007 0.418 P -2.045 0.002 N 2.88 0.103 T 2.22 0.003 N 0.171 0.295 -0.962 0.388 T 0.000 0.000 T . . . 1.209 0.211 11.79 0.463 0.036 0.066 0.125 N c -0.620 -0.508 1.000 0.747 0.707 0.730 0 5.41 0.782 2.236 0.425 0.016 0.142 0.920 0.317 0.002 0.062 13.022 0.580 . . . 0.9670 0.8127 0.9744 0.9356 0.9934 0.9960 0.9782 0.9650 0.9696 0.9350 0.8139 0.9678 0.9338 0.9926 0.9969 0.9801 0.9776 hom 3721.97 117 12 132237848 . T C 3721.97 Mask AC=2;AF=1.00;AN=2;DP=117;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6595;MQ=59.41;MQ0=0;QD=31.81;VQSLOD=6.6783;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3721,310,0 12 132250712 132250712 G C exonic SFSWAP synonymous SNV SFSWAP:NM_001261411:exon13:c.G2001C:p.L667L,SFSWAP:NM_004592:exon13:c.G2001C:p.L667L 0.1 0.0091 0.23 . 0.24 0.1 0.1899 0.0419 0.1708 0.0010 0.2160 0.2508 0.1958 0.1379 0.18 0.047 0.26 0.11 0.18 rs1051233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1924 0.0390 0.1767 0.2482 0.0009 0.2169 0.2504 0.2223 0.1417 0.1668 0.0457 0.1599 0.2152 0.0006 0.2037 0.2442 0.1986 het 2777.57 250 12 132250712 . G C 2777.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.861;DP=250;DS;Dels=0.00;FS=3.110;HRun=0;HaplotypeScore=0.9979;MQ=59.47;MQ0=0;MQRankSum=0.317;QD=11.11;ReadPosRankSum=-0.857;VQSLOD=6.3291;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:2808,0,4025 12 132271113 132271113 T C exonic SFSWAP synonymous SNV SFSWAP:NM_004592:exon15:c.T2514C:p.S838S,SFSWAP:NM_001261411:exon16:c.T2670C:p.S890S 0.99 0.98 1. 1. 1. 1. 0.9981 0.9844 0.9986 1 1 0.9994 0.9982 1 1. 0.99 1. 0.97 0.72 rs7136643 COSM3753053 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9845 0.9984 0.9978 1 0.9999 0.9996 0.9994 1 0.9951 0.9833 0.9976 1 1 1 0.9998 0.9980 hom 507.33 14 12 132271113 . T C 507.33 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=36.24;VQSLOD=13.0649;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:540,42,0 12 132335592 132335592 G A exonic MMP17 nonsynonymous SNV MMP17:NM_016155:exon10:c.G1585A:p.D529N 0.14 0.18 0.21 . 0.22 0.11 0.1981 0.1914 0.1722 0.0015 0.2703 0.2328 0.224 0.1571 0.2 0.18 0.22 0.14 0.19 rs11835665 . . . . . . . . . . . . . 0.045 0.408 D 0.04 0.198 B 0.004 0.093 B 0.574 0.055 U 1 0.090 P 0.975 0.246 L 2.21 0.184 T -1.38 0.387 N 0.085 0.080 -0.949 0.411 T 0.000 0.000 T . . . 1.247 0.215 12.00 0.989 0.480 0.655 0.325 D c -0.772 -0.731 1.000 0.473 0.696 0.567 0 1.51 0.220 3.648 0.539 0.980 0.597 0.981 0.351 0.002 0.062 7.369 0.258 Hemopexin-like domain ENSG00000198598.2 Esophagus_Mucosa 0.1834 0.1789 0.1648 0.1978 0.0010 0.2419 0.2167 0.1942 0.1416 0.1954 0.1854 0.1579 0.1967 0.0012 0.2296 0.2160 0.2016 hom 921.29 27 12 132335592 . G A 921.29 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;QD=34.12;VQSLOD=9.2762;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:75.24:954,75,0 12 132396603 132396603 C T exonic ULK1 synonymous SNV ULK1:NM_003565:exon13:c.C1065T:p.D355D 0.55 0.3 0.74 0.33 0.83 0.7 0.7127 0.3711 0.6716 0.3634 0.7041 0.8198 0.7143 0.7047 0.67 0.37 0.82 0.39 0.74 rs11616018 COSM430751 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7132 0.3544 0.6808 0.7717 0.3555 0.6946 0.8268 0.7490 0.7042 0.6451 0.3639 0.6730 0.7881 0.3801 0.6913 0.8154 0.7505 hom 1298.68 41 12 132396603 . C T 1298.68 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.51;MQ0=0;QD=31.68;VQSLOD=9.7137;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1332,108,0 12 132403161 132403161 A G exonic ULK1 nonsynonymous SNV ULK1:NM_003565:exon23:c.A2446G:p.T816A 0.99 0.97 1. 1. 1. 1. 0.9975 0.9725 0.9982 1 1 1.0000 0.9976 1 0.99 0.97 1. 0.72 0.92 rs11609348 COSM4146839 1(thyroid) . . . . . . . . . . . 0.985 0.020 T 0.0 0.026 B 0.001 0.040 B 0.002 0.365 N 1 0.383 P 0.015 0.080 N 0.89 0.456 T 0.59 0.026 N 0.016 0.126 -0.944 0.421 T 0.000 0.000 T . . . -1.936 0.009 0.001 0.687 0.085 0.025 0.070 N c -1.603 -1.645 0.427 0.203 0.660 0.495 0 -5.91 0.021 -0.233 0.090 -0.330 0.074 0.000 0.063 0.066 0.174 7.950 0.290 . . . 0.9982 0.9735 0.9988 1 1 1 0.9999 0.9992 0.9999 0.9940 0.9791 1 1 1 1 1 0.9969 hom 965.34 31 12 132403161 . A G 965.34 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.96;MQ0=0;QD=31.14;VQSLOD=7.7050;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:81.24:998,81,0 12 132626668 132626668 T C exonic DDX51 nonsynonymous SNV DDX51:NM_175066:exon5:c.A884G:p.Q295R 0.54 0.2 0.68 0.75 0.7 0.54 0.6338 0.2586 0.6688 0.7868 0.6156 0.6778 0.6405 0.5461 0.56 0.31 0.69 0.53 0.53 rs1133690 COSM4146861 1(thyroid) . . . . . . . . . . . 0.122 0.276 T 0.907 0.481 P 0.788 0.558 P 0.000 0.843 D 0.000 0.588 P 1.15 0.294 L 2.44 0.152 T -1.9 0.443 N 0.233 0.285 -1.172 0.005 T 0.000 0.000 T . . . 5.220 0.705 25.6 0.998 0.861 0.966 0.699 D c 0.384 0.414 1.000 0.747 0.707 0.730 0 4.71 0.589 7.079 0.763 1.011 0.635 1.000 0.715 0.989 0.536 12.153 0.532 DEAD/DEAH box helicase domain|Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000256804.1|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000256576.1|ENSG00000185163.5|ENSG00000256804.1|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185163.5|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185163.5|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8|ENSG00000185684.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.6367 0.2523 0.6785 0.7575 0.7849 0.6184 0.6752 0.6593 0.5476 0.5544 0.2650 0.6480 0.7333 0.7815 0.6128 0.6719 0.6161 het 873.32 92 12 132626668 . T C 873.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.121;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5544;MQ=59.59;MQ0=0;MQRankSum=-0.214;QD=9.49;ReadPosRankSum=-0.715;VQSLOD=6.3108;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,38:92:99:903,0,1406 12 132631855 132631855 C T exonic NOC4L synonymous SNV NOC4L:NM_024078:exon4:c.C375T:p.F125F 0.043 0.0061 0.072 . 0.11 0.054 0.1692 0.0349 0.1788 0.0022 0.3099 0.2325 0.1240 0.1121 0.082 0.022 0.11 0.022 0.082 rs11543305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0822 0.0192 0.0477 0.1426 0.0005 0.0747 0.1118 0.0811 0.0824 0.0708 0.0192 0.0502 0.1490 0.0006 0.0651 0.1088 0.0794 het 192.30 22 12 132631855 . C T 192.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.036;DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=58.95;MQ0=0;MQRankSum=-0.604;QD=8.74;ReadPosRankSum=-0.746;VQSLOD=5.7836;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,9:22:99:222,0,338 12 132682481 132682481 T G exonic GALNT9 synonymous SNV GALNT9:NM_021808:exon6:c.A423C:p.G141G,GALNT9:NM_001122636:exon10:c.A1521C:p.G507G 0.77 0.85 0.77 0.68 0.74 0.77 0.7566 0.8481 0.7564 0.6530 0.7881 0.7459 0.7569 0.7887 0.79 0.85 0.76 0.51 0.64 rs12308155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7506 0.8467 0.7448 0.7342 0.6556 0.7737 0.7437 0.7330 0.7798 0.7720 0.8355 0.7313 0.7517 0.6619 0.7658 0.7529 0.7433 het 268.07 22 12 132682481 . T G 268.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.407;DP=22;Dels=0.00;FS=1.603;HRun=1;HaplotypeScore=0.0000;MQ=57.20;MQ0=0;MQRankSum=-0.231;QD=12.18;ReadPosRankSum=-0.297;VQSLOD=4.4127;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:10,12:22:99:298,0,296 12 132682484 132682484 A G exonic GALNT9 synonymous SNV GALNT9:NM_021808:exon6:c.T420C:p.D140D,GALNT9:NM_001122636:exon10:c.T1518C:p.D506D 0.77 0.85 0.77 0.68 0.74 0.77 0.7563 0.8476 0.7561 0.6526 0.7884 0.7455 0.7588 0.7887 0.79 0.85 0.76 0.51 0.61 rs12306514 COSM3721891;COSM3721889;COSM3721890 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7504 0.8466 0.7446 0.7338 0.6552 0.7743 0.7433 0.7334 0.7799 0.7719 0.8356 0.7313 0.7567 0.6621 0.7662 0.7525 0.7433 het 266.40 23 12 132682484 . A G 266.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.031;DP=23;Dels=0.00;FS=1.744;HRun=0;HaplotypeScore=0.0000;MQ=57.32;MQ0=0;MQRankSum=-0.713;QD=11.58;ReadPosRankSum=-0.155;VQSLOD=4.3136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,13:23:99:296,0,283 12 132688137 132688137 A G exonic GALNT9 synonymous SNV GALNT9:NM_021808:exon3:c.T78C:p.Y26Y,GALNT9:NM_001122636:exon7:c.T1176C:p.Y392Y 0.57 0.67 0.52 0.49 0.57 0.55 0.5748 0.6435 0.4896 0.4584 0.6176 0.5930 0.5266 0.5659 0.62 0.65 0.61 0.54 0.57 rs7486927 COSM4146864;COSM4146865;COSM4146863 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5717 0.6468 0.4954 0.5347 0.4586 0.6144 0.5986 0.5433 0.5694 0.6066 0.6428 0.5072 0.5497 0.4524 0.6215 0.6061 0.5971 het 970.57 93 12 132688137 . A G 970.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.471;DP=93;Dels=0.00;FS=0.817;HRun=0;HaplotypeScore=1.6229;MQ=59.60;MQ0=0;MQRankSum=0.365;QD=10.44;ReadPosRankSum=0.304;VQSLOD=6.7981;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,45:93:99:1001,0,1390 12 133208979 133208979 T C exonic POLE synonymous SNV POLE:NM_006231:exon45:c.A6252G:p.S2084S 0.7 0.78 0.75 0.78 0.57 0.61 0.6381 0.7609 0.7981 0.8133 0.5884 0.5819 0.6026 0.6063 0.64 0.76 0.58 0.7 0.52 rs5745022 . . Benign not_specified RCV000427516.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6422 0.7664 0.7947 0.5301 0.8127 0.5772 0.5843 0.6315 0.6135 0.6546 0.7676 0.7685 0.5099 0.8075 0.5790 0.5901 0.5992 hom 3829.90 120 12 133208979 . T C 3829.90 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4476;MQ=59.07;MQ0=0;QD=31.92;VQSLOD=8.6986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:120:99:3784,301,0 12 133219831 133219831 T C exonic POLE synonymous SNV POLE:NM_006231:exon35:c.A4530G:p.A1510A 0.61 0.76 0.53 0.67 0.43 0.56 0.5032 0.7149 0.5824 0.7080 0.4409 0.4267 0.4810 0.5440 0.52 0.7 0.43 0.56 0.39 rs5744944 COSM4146901;COSM4146902 1(thyroid) Benign not_specified RCV000424670.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5027 0.7173 0.5788 0.3867 0.7042 0.4296 0.4309 0.4724 0.5486 0.5291 0.7113 0.5897 0.3733 0.7043 0.4335 0.4301 0.4684 hom 2683.45 87 12 133219831 . T C 2683.45 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=30.84;VQSLOD=9.3704;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:87:99:2716,217,0 12 133236000 133236000 C T exonic POLE synonymous SNV POLE:NM_006231:exon26:c.G3156A:p.T1052T 0.61 0.76 0.53 0.67 0.43 0.56 0.5029 0.7134 0.5822 0.7078 0.4401 0.4262 0.4779 0.5435 0.52 0.7 0.43 0.56 0.39 rs5744857 . . Benign not_specified RCV000421896.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5019 0.7171 0.5786 0.3873 0.7046 0.4298 0.4313 0.4726 0.5483 0.5300 0.7123 0.5935 0.3885 0.7048 0.4338 0.4309 0.4682 hom 3480.66 114 12 133236000 . C T 3480.66 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=30.53;VQSLOD=8.3506;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3480,277,0 12 133257837 133257837 C A exonic POLE nonsynonymous SNV POLE:NM_006231:exon2:c.G91T:p.A31S 0.0088 . 0.033 . 0.013 0.0082 0.0122 0.0034 0.0076 0.0001 0.0082 0.0171 0.0132 0.0092 0.016 0.0043 0.022 0.011 0.025 rs34047482 . . Benign|Benign Colorectal_cancer\x2c_susceptibility_to\x2c_12|not_specified RCV000205587.3|RCV000433484.1 MedGen:OMIM|MedGen C3554460:615083|CN169374 . . . . . . 0.439 0.093 T 0.035 0.192 B 0.047 0.234 B 0.000 0.491 D 1.000 0.588 D 1.385 0.346 L 4.22 0.031 T -0.16 0.095 N 0.16 0.456 -0.911 0.468 T 0.004 0.013 T . . . 1.148 0.205 11.47 0.894 0.182 0.991 0.912 D c -0.298 -0.233 1.000 0.747 0.737 0.974 0 4.83 0.617 7.412 0.791 0.890 0.394 1.000 0.715 0.102 0.190 17.888 0.887 . . . 0.0123 0.0030 0.0062 0.0013 5.798e-05 0.0077 0.0199 0.0131 0.0096 0.0124 0.0045 0.0060 0 0 0.0072 0.0201 0.0153 het 2250.62 221 12 133257837 . C A 2250.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.287;DP=221;DS;Dels=0.00;FS=2.405;HRun=0;HaplotypeScore=5.6830;MQ=59.17;MQ0=0;MQRankSum=-0.212;QD=10.18;ReadPosRankSum=0.288;VQSLOD=4.2830;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,90:221:99:2281,0,3332 12 133357412 133357412 T C exonic GOLGA3 nonsynonymous SNV GOLGA3:NM_005895:exon18:c.A3554G:p.K1185R 0.31 0.33 0.25 0.29 0.22 0.42 0.2687 0.3269 0.2331 0.2787 0.1855 0.2367 0.2731 0.4140 0.27 0.33 0.24 0.3 0.26 rs2291260 COSM3927705;COSM1128641 2(haematopoietic_and_lymphoid_tissue);3(prostate);2(large_intestine) . . . . . . . . . . . 0.221 0.196 T 0.998 0.899 D 0.994 0.916 D 0.000 0.843 D 0.001 0.810 P 2.045 0.562 M 1.47 0.320 T -1.12 0.297 N 0.083 0.123 -0.985 0.339 T 0.000 0.000 T . . . 1.409 0.232 12.84 0.994 0.636 0.977 0.765 D c 0.295 0.200 1.000 0.747 0.707 0.730 0 5.61 0.853 3.078 0.495 1.051 0.754 1.000 0.715 0.026 0.142 15.449 0.749 . ENSG00000196458.6|ENSG00000176915.10|ENSG00000072609.13|ENSG00000176915.10 Artery_Tibial|Cells_Transformed_fibroblasts|Testis|Whole_Blood 0.2642 0.3280 0.2299 0.2640 0.2753 0.1752 0.2388 0.2754 0.4137 0.2542 0.3246 0.2243 0.2384 0.2815 0.1815 0.2294 0.2531 het 3211.57 203 12 133357412 . T C 3211.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.356;DP=203;DS;Dels=0.00;FS=5.532;HRun=2;HaplotypeScore=2.8589;MQ=59.70;MQ0=0;MQRankSum=-0.441;QD=15.82;ReadPosRankSum=0.573;VQSLOD=5.2821;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,112:203:99:3242,0,2492 12 133363006 133363006 G A exonic GOLGA3 synonymous SNV GOLGA3:NM_001172557:exon15:c.C3042T:p.L1014L,GOLGA3:NM_005895:exon15:c.C3042T:p.L1014L 0.29 0.3 0.28 0.19 0.29 0.41 0.3053 0.3129 0.2597 0.1900 0.2090 0.3073 0.3251 0.4186 0.31 0.31 0.32 0.022 0.3 rs12823938 COSM1476360;COSM430787;COSM1628466 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2954 0.3063 0.2553 0.3406 0.1864 0.1883 0.3050 0.3146 0.4192 0.2798 0.3080 0.2578 0.3444 0.2004 0.1883 0.2934 0.2782 het 379.14 45 12 133363006 . G A 379.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.668;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=-0.036;QD=8.43;ReadPosRankSum=0.865;VQSLOD=5.6063;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,16:45:99:409,0,832 12 133384864 133384864 G A exonic GOLGA3 nonsynonymous SNV GOLGA3:NM_001172557:exon5:c.C791T:p.P264L,GOLGA3:NM_005895:exon5:c.C791T:p.P264L 0.14 0.011 0.16 0.17 0.28 0.13 0.2284 0.0456 0.1103 0.1811 0.2501 0.3045 0.2093 0.1360 0.21 0.051 0.3 0.16 0.23 rs3741486 COSM4418635;COSM4418633;COSM4418634 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.125 0.301 T 0.011 0.147 B 0.002 0.063 B 0.718 0.063 N 1 0.090 P 0.11 0.085 N 1.63 0.280 T -1.6 0.385 N 0.025 0.026 -0.977 0.357 T 0.000 0.000 T . . . 0.150 0.108 4.150 0.716 0.094 0.097 0.152 N c -0.850 -0.888 0.703 0.227 0.707 0.730 0 0.791 0.177 0.309 0.190 0.902 0.416 0.000 0.063 0.001 0.043 9.749 0.394 . ENSG00000176915.10|ENSG00000196458.6|ENSG00000196458.6|ENSG00000196458.6|ENSG00000176915.10|ENSG00000196458.6|ENSG00000176915.10|ENSG00000196458.6|ENSG00000196458.6|ENSG00000176915.10|ENSG00000176915.10|ENSG00000196458.6|ENSG00000176915.10|ENSG00000196458.6|ENSG00000176915.10|ENSG00000196458.6|ENSG00000176915.10|ENSG00000196458.6|ENSG00000196458.6|ENSG00000176915.10|ENSG00000196458.6|ENSG00000196458.6|ENSG00000196458.6|ENSG00000176915.10|ENSG00000176915.10|ENSG00000090615.8|ENSG00000196458.6|ENSG00000176915.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2249 0.0429 0.1180 0.2625 0.1874 0.2484 0.3039 0.2352 0.1358 0.2137 0.0518 0.1352 0.2533 0.1855 0.2504 0.3048 0.2332 het 2725.47 182 12 133384864 . G A 2725.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.625;DP=182;Dels=0.00;FS=5.848;HRun=0;HaplotypeScore=7.3981;MQ=58.87;MQ0=0;MQRankSum=1.161;QD=14.98;ReadPosRankSum=1.181;VQSLOD=4.0881;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,103:182:99:2755,0,2024 12 133389998 133389998 T C exonic GOLGA3 synonymous SNV GOLGA3:NM_001172557:exon4:c.A414G:p.T138T,GOLGA3:NM_005895:exon4:c.A414G:p.T138T 0.072 0.011 0.073 0.045 0.17 0.083 0.1314 0.0274 0.0551 0.0468 0.1673 0.1791 0.1337 0.0846 0.12 0.029 0.17 0.076 0.09 rs7134809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1262 0.0252 0.0601 0.1243 0.0521 0.1704 0.1746 0.1304 0.0797 0.1273 0.0269 0.0692 0.0960 0.0469 0.1738 0.1860 0.1469 het 937.54 70 12 133389998 . T C 937.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.177;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9465;MQ=59.67;MQ0=0;MQRankSum=0.365;QD=13.39;ReadPosRankSum=0.577;VQSLOD=6.6526;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:968,0,920 12 133423695 133423695 A G exonic CHFR synonymous SNV CHFR:NM_001161347:exon13:c.T1429C:p.L477L,CHFR:NM_001161344:exon15:c.T1705C:p.L569L,CHFR:NM_001161345:exon15:c.T1702C:p.L568L,CHFR:NM_001161346:exon15:c.T1669C:p.L557L,CHFR:NM_018223:exon15:c.T1582C:p.L528L 0.14 0.011 0.16 0.17 0.28 0.14 0.2299 0.0462 0.1072 0.1830 0.2539 0.3063 0.2111 0.1376 0.21 0.051 0.3 0.16 0.21 rs2306537 COSM4416888;COSM4416889 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2259 0.0429 0.1152 0.2664 0.1887 0.2515 0.3051 0.2364 0.1376 0.2144 0.0519 0.1384 0.2517 0.1856 0.2532 0.3056 0.2332 het 2358.01 191 12 133423695 . A G 2358.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.872;DP=191;DS;Dels=0.00;FS=1.490;HRun=0;HaplotypeScore=2.6163;MQ=59.88;MQ0=0;MQRankSum=0.102;QD=12.35;ReadPosRankSum=1.279;VQSLOD=6.3116;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,88:191:99:2388,0,2833 12 133428242 133428242 G A exonic CHFR nonsynonymous SNV CHFR:NM_001161347:exon10:c.C1214T:p.A405V,CHFR:NM_001161344:exon12:c.C1490T:p.A497V,CHFR:NM_001161345:exon12:c.C1487T:p.A496V,CHFR:NM_001161346:exon12:c.C1454T:p.A485V,CHFR:NM_018223:exon12:c.C1367T:p.A456V 0.25 0.2 0.28 0.19 0.28 0.36 0.2803 0.2179 0.2480 0.1901 0.1751 0.2956 0.3054 0.3667 0.28 0.22 0.31 0.25 0.28 rs2306541 COSM1180449;COSM1180448 3(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 0.19 0.310 T 0.699 0.585 P 0.138 0.540 B 0.000 0.843 D 0.000 0.588 P 2.52 0.738 M 2.19 0.338 T -1.37 0.437 N 0.727 0.726 -1.093 0.051 T 0.000 0.000 T . . . 5.219 0.705 25.6 0.999 0.966 0.990 0.902 D c 0.573 0.593 1.000 0.747 0.707 0.730 0 6.08 0.990 8.634 0.907 1.044 0.665 1.000 0.715 0.545 0.279 20.663 0.997 . ENSG00000196458.6|ENSG00000176915.10|ENSG00000250790.3|ENSG00000196458.6|ENSG00000196458.6|ENSG00000196458.6|ENSG00000176915.10|ENSG00000072609.13|ENSG00000196458.6|ENSG00000176915.10 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Nerve_Tibial|Spleen|Testis|Thyroid|Whole_Blood 0.2750 0.2129 0.2447 0.3217 0.1866 0.1647 0.2968 0.2982 0.3694 0.2443 0.2138 0.2446 0.3278 0.1939 0.1647 0.2832 0.2612 het 2093.42 177 12 133428242 . G A 2093.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.784;DP=177;DS;Dels=0.00;FS=7.910;HRun=0;HaplotypeScore=8.7204;MQ=59.63;MQ0=0;MQRankSum=-0.092;QD=11.83;ReadPosRankSum=0.230;VQSLOD=4.2032;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:91,84:177:99:2123,0,2489 12 133433173 133433173 T C exonic CHFR synonymous SNV CHFR:NM_001161347:exon8:c.A870G:p.R290R,CHFR:NM_001161344:exon10:c.A1146G:p.R382R,CHFR:NM_001161345:exon10:c.A1146G:p.R382R,CHFR:NM_001161346:exon10:c.A1110G:p.R370R,CHFR:NM_018223:exon10:c.A1023G:p.R341R 0.97 0.89 1. 1. 1. 1. 0.9907 0.8993 0.9959 1 1 0.9996 0.9934 0.9999 0.97 0.9 1. 0.99 0.98 rs2062163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9927 0.9013 0.9940 1 1 1 0.9996 0.9945 0.9999 0.9733 0.9081 0.9881 1 1 1 0.9997 0.9919 hom 8506.77 250 12 133433173 . T C 8506.77 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7984;MQ=59.31;MQ0=0;QD=34.03;VQSLOD=8.5785;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8506,671,0 12 133435716 133435716 T G exonic CHFR synonymous SNV CHFR:NM_001161347:exon6:c.A609C:p.P203P,CHFR:NM_001161344:exon8:c.A885C:p.P295P,CHFR:NM_001161345:exon8:c.A885C:p.P295P,CHFR:NM_001161346:exon8:c.A849C:p.P283P,CHFR:NM_018223:exon8:c.A762C:p.P254P 0.14 0.011 0.16 0.17 0.28 0.14 0.2293 0.0457 0.1071 0.1833 0.2539 0.3056 0.2093 0.1374 0.21 0.051 0.3 0.16 0.24 rs35011845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2254 0.0429 0.1144 0.2665 0.1882 0.2516 0.3046 0.2339 0.1371 0.2148 0.0519 0.1388 0.2517 0.1852 0.2532 0.3063 0.2331 het 1092.36 108 12 133435716 . T G 1092.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.597;DP=108;Dels=0.00;FS=3.513;HRun=2;HaplotypeScore=4.2077;MQ=59.83;MQ0=0;MQRankSum=-0.626;QD=10.11;ReadPosRankSum=-0.519;VQSLOD=4.7425;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,46:108:99:1122,0,1763 12 133682655 133682655 A G exonic ZNF140 synonymous SNV ZNF140:NM_001300776:exon4:c.A483G:p.Q161Q,ZNF140:NM_001300777:exon5:c.A408G:p.Q136Q,ZNF140:NM_003440:exon5:c.A792G:p.Q264Q,ZNF140:NM_001300778:exon6:c.A483G:p.Q161Q 0.55 0.83 0.44 0.24 0.58 0.53 0.5593 0.7990 0.3602 0.2177 0.5784 0.6066 0.5542 0.5272 0.66 0.79 0.6 0.58 0.48 rs710945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5447 0.8052 0.3748 0.5484 0.2246 0.5769 0.6066 0.5573 0.5294 0.6363 0.8030 0.4281 0.5331 0.2160 0.5854 0.6143 0.5724 het 516.69 50 12 133682655 . A G 516.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.830;DP=50;Dels=0.00;FS=2.463;HRun=0;HaplotypeScore=0.9933;MQ=50.83;MQ0=0;MQRankSum=0.826;QD=10.33;ReadPosRankSum=-0.373;VQSLOD=2.3918;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,21:50:99:547,0,838 12 133732624 133732624 C T exonic ZNF10 synonymous SNV ZNF10:NM_015394:exon5:c.C792T:p.P264P 0.29 0.44 0.26 0.11 0.34 0.26 0.3121 0.4183 0.2534 0.0745 0.3066 0.3438 0.2920 0.2857 0.36 0.41 0.33 0.38 0.25 rs3763151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3045 0.4184 0.2540 0.3236 0.0748 0.3006 0.3436 0.3129 0.2857 0.3441 0.4243 0.2780 0.3212 0.0749 0.3069 0.3434 0.2811 het 590.61 61 12 133732624 . C T 590.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.600;DP=61;Dels=0.00;FS=1.039;HRun=1;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=-0.141;QD=9.68;ReadPosRankSum=0.156;VQSLOD=6.0994;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,23:61:99:621,0,1070 12 133778796 133778796 C T exonic ZNF268 nonsynonymous SNV ZNF268:NM_001165884:exon3:c.C100T:p.R34W,ZNF268:NM_001165883:exon4:c.C301T:p.R101W,ZNF268:NM_001165886:exon4:c.C196T:p.R66W,ZNF268:NM_001165885:exon5:c.C397T:p.R133W,ZNF268:NM_001165881:exon6:c.C524T:p.T175M,ZNF268:NM_001165882:exon6:c.C275T:p.T92M,ZNF268:NM_003415:exon6:c.C524T:p.T175M 0.3 0.45 0.26 0.11 0.35 0.26 0.3188 0.4245 0.2586 0.0761 0.3277 0.3508 0.3072 0.2934 0.35 0.41 0.33 0.35 . rs7975069 . . . . . . . . . . . . . 0.181 0.219 T 0.001 0.090 B 0.0 0.040 B . . . 1 0.090 P 0.505 0.135 N 3.05 0.087 T 0.74 0.020 N 0.077 0.068 -0.938 0.430 T 0.000 0.000 T . . . -0.458 0.058 0.279 0.313 0.018 0.004 0.019 N c -1.673 -1.686 0.000 0.062 0.707 0.730 0 -0.175 0.126 -0.828 0.045 -1.897 0.006 0.000 0.063 0.000 0.016 5.107 0.140 . ENSG00000255748.1|ENSG00000176915.10|ENSG00000196458.6|ENSG00000214029.3|ENSG00000196458.6|ENSG00000196458.6 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis|Thyroid|Whole_Blood 0.3084 0.4138 0.2541 0.3319 0.0749 0.3202 0.3465 0.3166 0.2905 0.3466 0.4160 0.2855 0.3212 0.0752 0.3197 0.3489 0.2936 het 551.53 40 12 133778796 . C T 551.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.083;DP=40;Dels=0.00;FS=1.189;HRun=0;HaplotypeScore=1.9933;MQ=59.53;MQ0=0;MQRankSum=1.679;QD=13.79;ReadPosRankSum=0.623;VQSLOD=6.0848;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,21:40:99:582,0,513 13 20000630 20000630 T C exonic TPTE2 nonsynonymous SNV TPTE2:NM_001271850:exon5:c.A343G:p.I115V,TPTE2:NM_130785:exon16:c.A1099G:p.I367V,TPTE2:NM_001141968:exon17:c.A997G:p.I333V,TPTE2:NM_199254:exon19:c.A1330G:p.I444V 0.93 0.75 0.97 1. 1. 1. 0.9802 0.7861 0.9888 0.9998 1 0.9988 0.9923 0.9996 0.93 0.8 1. 0.7 0.99 rs2497218 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.045 0.236 N 1 0.090 P -0.995 0.012 N -1.91 0.847 D 0.47 0.032 N 0.025 0.032 -0.989 0.329 T 0.000 0.000 T . . . -2.402 0.004 0.001 0.111 0.002 0.000 0.002 N c -1.441 -1.427 0.000 0.012 0.638 0.428 0 2.06 0.258 0.498 0.221 -0.797 0.032 0.002 0.151 0.001 0.043 4.852 0.128 C2 domain|Tensin phosphatase\x2c C2 domain;Dual specificity phosphatase\x2c catalytic domain|Protein-tyrosine phosphatase-like|Tensin phosphatase\x2c lipid phosphatase domain;Protein-tyrosine phosphatase-like|Tensin phosphatase\x2c lipid phosphatase domain . . 0.9845 0.7923 0.9872 0.9993 1 1 0.9989 0.9889 0.9997 0.9414 0.7962 0.9868 1 1 1 0.9989 0.9877 hom 5123.03 169 13 20000630 . T C 5123.03 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4105;MQ=58.57;MQ0=1;QD=30.31;VQSLOD=8.6716;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,167:169:99:5123,385,0 13 20398669 20398669 T C exonic ZMYM5 nonsynonymous SNV ZMYM5:NM_001142684:exon8:c.A1958G:p.H653R 0.8 0.54 0.84 0.96 0.86 0.89 0.8650 0.6070 0.8628 0.9663 0.9495 0.8784 0.8495 0.8774 0.79 0.6 0.87 0.72 . rs9508907 COSM4147622 1(thyroid) . . . . . . . . . . . 0.712 0.040 T 0.139 0.259 B 0.026 0.195 B 0.079 0.023 N 1 0.090 P 1.04 0.263 L 2.32 0.166 T 0.85 0.029 N 0.023 0.021 -0.998 0.304 T 0.000 0.000 T . . . -2.793 0.002 0.001 0.160 0.004 0.012 0.043 N c -1.478 -1.507 0.003 0.099 0.651 0.465 0 1.38 0.212 -0.048 0.118 -2.561 0.002 0.001 0.137 0.145 0.203 6.692 0.222 Zinc finger\x2c TTF-type ENSG00000132950.14|ENSG00000121390.13|ENSG00000121390.13|ENSG00000121390.13 Lung|Lung|Nerve_Tibial|Thyroid 0.8569 0.5841 0.8343 0.7875 0.9638 0.9439 0.8709 0.8419 0.8679 0.8139 0.5939 0.8473 0.7947 0.9623 0.9468 0.8882 0.8929 het 249.45 28 13 20398669 . T C 249.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.540;DP=28;Dels=0.00;FS=7.181;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=-0.141;QD=8.91;ReadPosRankSum=-0.894;VQSLOD=4.5262;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,11:28:99:279,0,393 13 20797025 20797025 A T exonic GJB6 nonsynonymous SNV GJB6:NM_001110221:exon3:c.T595A:p.S199T,GJB6:NM_006783:exon3:c.T595A:p.S199T,GJB6:NM_001110220:exon4:c.T595A:p.S199T,GJB6:NM_001110219:exon5:c.T595A:p.S199T 0.0018 . 0.0014 . 0.008 . 0.0047 0.0011 0.0012 0 0.0050 0.0076 0.0022 6.056e-05 0.0043 0.0002 0.0064 . 0.0082 rs111033338 . . other not_specified RCV000038709.5 MedGen CN169374 . . . . . . 0.02 0.496 D 1.0 0.899 D 0.998 0.875 D 0.000 0.629 D 1.000 0.537 D 2.645 0.776 M -3.92 0.961 D -1.99 0.459 N 0.774 0.766 0.869 0.953 D 0.886 0.962 D 0.476 0.948 D 3.419 0.469 23.0 0.992 0.564 0.981 0.793 D c 0.586 0.499 1.000 0.747 0.487 0.133 0 5.61 0.853 6.096 0.709 1.199 0.960 1.000 0.715 0.947 0.422 15.792 0.780 Connexin\x2c N-terminal|Gap junction protein\x2c cysteine-rich domain . . 0.0046 0.0007 0.0014 0.0013 0 0.0054 0.0082 0.0051 0 0.0048 0.0017 0.0012 0 0 0.0060 0.0073 0.0031 het 1381.60 100 13 20797025 . A T 1381.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.582;DP=100;Dels=0.00;FS=0.761;HRun=0;HaplotypeScore=0.0000;MQ=59.77;MQ0=0;MQRankSum=1.074;QD=13.82;ReadPosRankSum=1.386;VQSLOD=5.8476;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,55:100:99:1412,0,1142 13 21189941 21189941 G A exonic IFT88 nonsynonymous SNV IFT88:NM_001318491:exon13:c.G1065A:p.M355I,IFT88:NM_006531:exon14:c.G1122A:p.M374I,IFT88:NM_001318493:exon15:c.G1149A:p.M383I,IFT88:NM_175605:exon16:c.G1149A:p.M383I 0.13 0.28 0.13 . 0.14 0.053 0.1321 0.2567 0.0857 0.0001 0.1138 0.1542 0.1413 0.0728 0.18 0.25 0.15 0.16 0.12 rs2442455 COSM3753611 1(large_intestine) Benign not_specified RCV000455077.1 MedGen CN169374 . . . . . . 0.181 0.219 T 0.001 0.176 B 0.001 0.112 B 0.001 0.429 D 0.097 0.362 P 0.55 0.145 N 1.59 0.288 T -0.99 0.262 N 0.103 0.239 -1.015 0.253 T 0.000 0.000 T . . . 2.867 0.405 21.7 0.991 0.520 0.914 0.531 D c -0.090 0.124 1.000 0.423 0.539 0.216 0 4.74 0.596 4.193 0.579 0.953 0.551 1.000 0.715 1.000 0.888 9.753 0.395 . ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000222726.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000238286.1|ENSG00000269591.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000222726.1|ENSG00000238286.1|ENSG00000222726.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000222726.1|ENSG00000238286.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Thyroid|Thyroid|Uterus 0.1254 0.2523 0.0849 0.1647 6.076e-05 0.1124 0.1502 0.1371 0.0735 0.1625 0.2544 0.0981 0.16 0.0006 0.1157 0.1430 0.1357 het 940.66 91 13 21189941 . G A 940.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.937;DP=91;Dels=0.00;FS=2.805;HRun=0;HaplotypeScore=5.9284;MQ=56.87;MQ0=0;MQRankSum=-0.442;QD=10.34;ReadPosRankSum=-0.912;VQSLOD=3.4236;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,42:91:99:971,0,1212 13 21205192 21205192 G A exonic IFT88 nonsynonymous SNV IFT88:NM_001318491:exon15:c.G1280A:p.S427N,IFT88:NM_006531:exon16:c.G1337A:p.S446N,IFT88:NM_001318493:exon17:c.G1364A:p.S455N,IFT88:NM_175605:exon18:c.G1364A:p.S455N 0.76 0.52 0.78 0.99 0.72 0.9 0.7600 0.5268 0.8562 0.9970 0.7410 0.7217 0.7373 0.8792 0.66 0.54 0.72 0.72 0.69 rs9509307 . . Benign not_specified RCV000454792.1 MedGen CN169374 . . . . . . 0.021 0.491 D 0.475 0.361 P 0.259 0.377 B 0.000 0.843 D 0.000 0.588 P 2.85 0.831 M 0.57 0.544 T -1.28 0.322 N 0.104 0.357 -1.041 0.171 T 0.000 0.000 T . . . 3.847 0.519 23.4 0.991 0.518 0.992 0.927 D c 0.272 0.341 0.997 0.356 0.638 0.428 0 4.56 0.555 6.190 0.718 1.048 0.713 1.000 0.715 1.000 0.888 16.098 0.809 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000222726.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000032742.13|ENSG00000032742.13|ENSG00000238286.1|ENSG00000032742.13|ENSG00000222726.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000032742.13|ENSG00000222726.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000222726.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000238286.1|ENSG00000032742.13|ENSG00000238286.1|ENSG00000032742.13|ENSG00000032742.13|ENSG00000238286.1|ENSG00000222726.1|ENSG00000032742.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Testis|Thyroid|Thyroid|Whole_Blood 0.7703 0.5276 0.8545 0.6955 0.9967 0.7484 0.7260 0.7404 0.8777 0.6890 0.5337 0.8230 0.6358 0.9963 0.7440 0.7234 0.7413 het 1490.99 143 13 21205192 . G A 1490.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.108;DP=143;Dels=0.00;FS=0.628;HRun=1;HaplotypeScore=0.7887;MQ=57.96;MQ0=0;MQRankSum=0.504;QD=10.43;ReadPosRankSum=1.484;VQSLOD=5.0545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,61:143:99:1521,0,2088 13 21562832 21562832 C T exonic LATS2 nonsynonymous SNV LATS2:NM_014572:exon4:c.G1087A:p.G363S 0.85 0.69 0.91 1. 0.88 0.85 0.8729 0.7123 0.9489 0.9995 0.8236 0.8785 0.8737 0.8388 0.83 0.73 0.88 0.64 0.33 rs2770928 COSM432207 1(thyroid);14(large_intestine) . . . . . . . . . . . 0.472 0.084 T 0.002 0.090 B 0.003 0.080 B 0.807 0.068 N 1 0.090 P 0.38 0.122 N 0.4 0.573 T -0.74 0.208 N 0.02 0.086 -0.913 0.465 T 0.000 0.000 T . . . -0.186 0.077 1.173 0.711 0.092 0.241 0.221 N c -1.395 -1.367 0.957 0.282 0.707 0.730 0 -1.07 0.094 0.868 0.274 -2.018 0.005 0.863 0.304 0.002 0.062 11.420 0.490 . . . 0.8796 0.7096 0.9423 0.9331 0.9996 0.8222 0.8791 0.8863 0.8318 0.8239 0.7116 0.9270 0.9503 0.9981 0.8210 0.8614 0.8381 hom 1053.79 37 13 21562832 . C T 1053.79 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.48;VQSLOD=13.4196;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:84.24:1087,84,0 13 21562948 21562948 G A exonic LATS2 nonsynonymous SNV LATS2:NM_014572:exon4:c.C971T:p.A324V 0.63 0.51 0.69 0.54 0.8 0.67 0.7345 0.5682 0.6495 0.5342 0.7165 0.8128 0.7733 0.6862 0.73 0.58 0.82 0.48 0.11 rs558614 COSM1477132;COSM432208 1(thyroid);16(large_intestine) . . . . . . . . . . . 0.194 0.208 T 0.216 0.285 B 0.028 0.201 B 0.912 0.085 N 1 0.090 P 0.345 0.112 N 0.29 0.589 T -0.46 0.150 N 0.028 0.094 -0.968 0.376 T 0.000 0.000 T . . . 1.454 0.237 13.07 0.936 0.229 0.968 0.711 D c -0.662 -0.583 1.000 0.517 0.707 0.730 0 2.72 0.310 6.331 0.727 0.822 0.336 1.000 0.715 0.215 0.221 12.146 0.531 . . . 0.7266 0.5499 0.6481 0.8659 0.5276 0.7052 0.8131 0.7687 0.6743 0.6984 0.5518 0.6842 0.8733 0.5211 0.7110 0.7940 0.7418 hom 472.82 15 13 21562948 . G A 472.82 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.52;VQSLOD=12.5031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:506,42,0 13 21620085 21620085 T C exonic LATS2 synonymous SNV LATS2:NM_014572:exon2:c.A81G:p.K27K 0.81 0.63 0.85 0.88 0.83 0.92 0.8496 0.6598 0.9190 0.8897 0.8948 0.8441 0.8535 0.9032 0.78 0.66 0.84 0.76 0.82 rs7317471 COSM3753614;COSM3753615 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8533 0.6531 0.9096 0.7186 0.8858 0.8944 0.8495 0.8469 0.9019 0.8142 0.6717 0.8969 0.7185 0.9047 0.8845 0.8646 0.8661 hom 3298.10 106 13 21620085 . T C 3298.10 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.12;MQ0=0;QD=31.11;VQSLOD=9.7741;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3298,253,0 13 21720956 21720956 C T exonic SAP18 synonymous SNV SAP18:NM_005870:exon3:c.C252T:p.T84T 0.46 0.22 0.6 0.72 0.45 0.42 0.4745 0.2535 0.6971 0.6879 0.5167 0.4515 0.4578 0.4230 0.38 0.26 0.44 0.43 0.34 rs4620 COSM3753616 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4836 0.2525 0.6763 0.3739 0.6806 0.5217 0.4526 0.4902 0.4145 0.4339 0.2590 0.6367 0.4007 0.6869 0.5244 0.4733 0.4795 het 561.15 34 13 21720956 . C T 561.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.500;DP=34;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;MQRankSum=-0.466;QD=16.50;ReadPosRankSum=0.707;VQSLOD=6.2398;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,18:34:99:591,0,502 13 21732094 21732094 C T exonic SKA3 synonymous SNV SKA3:NM_001166017:exon7:c.G1086A:p.P362P,SKA3:NM_145061:exon7:c.G1086A:p.P362P 0.92 0.79 0.94 1. 0.95 0.99 0.9502 0.8217 0.9607 0.9995 0.9865 0.9506 0.9493 0.9814 0.91 0.83 0.94 0.92 0.92 rs4770121 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9529 0.8203 0.9581 0.9579 0.9998 0.9851 0.9476 0.9508 0.9817 0.9198 0.8172 0.9479 0.9735 1 0.9826 0.9520 0.9451 hom 3031.54 99 13 21732094 . C T 3031.54 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7480;MQ=58.28;MQ0=0;QD=30.62;VQSLOD=9.0061;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3065,229,0 13 21735998 21735998 T C exonic SKA3 nonsynonymous SNV SKA3:NM_001166017:exon5:c.A760G:p.T254A,SKA3:NM_145061:exon5:c.A760G:p.T254A 0.098 0.067 0.073 0.097 0.14 0.12 0.1288 0.0802 0.0676 0.1121 0.1569 0.1470 0.1306 0.1266 0.12 0.078 0.14 0.087 0.22 rs17345690 COSM147641;COSM4778210 1(stomach);1(pancreas);1(prostate) . . . . . . . . . . . 0.329 0.132 T 0.017 0.206 B 0.02 0.179 B 0.514 0.118 N 1 0.090 P 1.795 0.474 L 1.93 0.229 T -1.8 0.424 N 0.01 0.001 -0.994 0.316 T 0.000 0.001 T . . . -0.981 0.033 0.017 0.846 0.149 0.023 0.066 N c -0.993 -1.022 0.069 0.155 0.732 0.924 0 1.32 0.208 -0.025 0.123 0.079 0.188 0.000 0.063 0.002 0.062 1.491 0.023 . . . 0.1228 0.0761 0.0667 0.1739 0.1107 0.1551 0.1368 0.1281 0.1221 0.1161 0.0744 0.0885 0.2086 0.1049 0.1666 0.1291 0.1232 het 562.50 43 13 21735998 . T C 562.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.517;DP=43;Dels=0.00;FS=1.279;HRun=0;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;MQRankSum=0.597;QD=13.08;ReadPosRankSum=-0.377;VQSLOD=6.4464;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,23:43:99:592,0,480 13 22275394 22275394 A G exonic FGF9 synonymous SNV FGF9:NM_002010:exon3:c.A447G:p.S149S 0.83 0.63 0.88 0.96 0.84 0.92 0.8398 0.6645 0.9271 0.9645 0.8160 0.8227 0.8623 0.9008 0.77 0.66 0.83 0.78 0.77 rs9509841 . . Benign Symphalangism-brachydactyly_syndrome RCV000361942.1 MedGen:OMIM:SNOMED_CT C0342282:186500:129580008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8474 0.6612 0.9244 0.8468 0.9608 0.8104 0.8252 0.8411 0.9012 0.7863 0.6565 0.9067 0.8278 0.9561 0.7947 0.8312 0.8259 hom 2577.30 89 13 22275394 . A G 2577.30 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.01;MQ0=0;QD=28.96;VQSLOD=8.9255;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:89:99:2610,214,0 13 23898509 23898509 T C exonic SGCG synonymous SNV SGCG:NM_000231:exon8:c.T705C:p.L235L 0.63 0.33 0.75 0.75 0.69 0.77 0.6744 0.3989 0.8182 0.7690 0.6722 0.6700 0.6689 0.7165 0.58 0.4 0.67 0.62 0.68 rs1800353 . . Benign|Benign|Likely benign|Benign not_specified|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive|Spastic_ataxia_Charlevoix-Saguenay_type|Severe_autosomal_recessive_muscular_dystrophy_of_childhood_-_North_African_type RCV000078407.8|RCV000278365.1|RCV000293880.1|RCV000373060.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239352|C1849140:270550:ORPHA98|C0410173:253700:ORPHA353:240056002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6866 0.3911 0.8115 0.7842 0.7645 0.6700 0.6624 0.7023 0.7185 0.5976 0.4042 0.7971 0.7517 0.7728 0.6678 0.6567 0.6548 hom 2745.81 91 13 23898509 . T C 2745.81 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.61;MQ0=0;QD=30.17;VQSLOD=8.7524;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2779,220,0 13 23898664 23898664 A G exonic SGCG nonsynonymous SNV SGCG:NM_000231:exon8:c.A860G:p.N287S 0.88 0.7 0.93 1. 0.89 0.93 0.8817 0.7394 0.9380 0.9992 0.8815 0.8710 0.8709 0.9142 0.82 0.73 0.87 0.86 0.89 rs1800354 COSM4147635 1(thyroid) Benign\x2cBenign|Benign not_specified\x2cnot_specified|Spastic_ataxia_Charlevoix-Saguenay_type RCV000245291.1\x2cRCV000153942.4|RCV000348757.1 MedGen\x2cMedGen|MedGen:OMIM:Orphanet CN169374\x2cCN169374|C1849140:270550:ORPHA98 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.428 N 1.000 0.090 P -2.215 0.001 N -1.82 0.841 D 0.86 0.017 N 0.014 0.061 -0.928 0.445 T 0.000 0.000 T . . . 0.212 0.114 4.804 0.573 0.056 0.079 0.137 N c -1.015 -0.767 1.000 0.747 0.601 0.348 0 5.41 0.782 4.112 0.573 0.076 0.183 1.000 0.715 0.414 0.256 14.422 0.666 . . . 0.8865 0.7392 0.9349 0.9173 0.9994 0.8836 0.8653 0.8855 0.9124 0.8436 0.7431 0.9165 0.8676 0.9994 0.8880 0.8675 0.8837 hom 2715.13 89 13 23898664 . A G 2715.13 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.693;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4443;MQ=59.58;MQ0=0;MQRankSum=-1.142;QD=30.51;ReadPosRankSum=-0.276;VQSLOD=8.2817;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,88:89:99:2748,211,0 13 23907677 23907677 C T exonic SACS synonymous SNV SACS:NM_001278055:exon8:c.G9897A:p.Q3299Q,SACS:NM_014363:exon10:c.G10338A:p.Q3446Q 0.99 0.94 1. 1. 1. 1. 0.9957 0.9525 0.9983 1 1 0.9999 0.9989 0.9999 0.98 0.95 1. 1. 0.98 rs2737701 . . other|Benign not_specified|Spastic_ataxia_Charlevoix-Saguenay_type RCV000118229.3|RCV000270430.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1849140:270550:ORPHA98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9966 0.9539 0.9976 1 0.9999 1 0.9998 0.9973 0.9998 0.9875 0.9562 0.9988 1 1 1 0.9998 0.9990 hom 2457.85 79 13 23907677 . C T 2457.85 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9962;MQ=58.94;MQ0=0;QD=31.11;VQSLOD=9.4708;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2491,196,0 13 23908034 23908034 A G exonic SACS synonymous SNV SACS:NM_001278055:exon8:c.T9540C:p.A3180A,SACS:NM_014363:exon10:c.T9981C:p.A3327A 0.34 0.12 0.4 0.41 0.44 0.41 0.4061 0.1697 0.4234 0.3995 0.4537 0.4383 0.3896 0.3948 0.35 0.17 0.44 0.37 0.34 rs2737700 COSM3999043 5(haematopoietic_and_lymphoid_tissue) other|Likely benign not_specified|Spastic_ataxia_Charlevoix-Saguenay_type RCV000118235.3|RCV000331174.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1849140:270550:ORPHA98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4116 0.1654 0.4278 0.3778 0.3971 0.4505 0.4422 0.4229 0.3950 0.3660 0.1775 0.4496 0.3609 0.3775 0.4542 0.4470 0.4041 hom 1342.42 50 13 23908034 . A G 1342.42 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.36;MQ0=0;QD=26.85;VQSLOD=8.3905;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1375,108,0 13 24234517 24234517 A G exonic TNFRSF19 synonymous SNV TNFRSF19:NM_001204459:exon5:c.A228G:p.S76S,TNFRSF19:NM_001204458:exon7:c.A624G:p.S208S,TNFRSF19:NM_018647:exon7:c.A624G:p.S208S,TNFRSF19:NM_148957:exon7:c.A624G:p.S208S 0.66 0.6 0.71 0.59 0.8 0.63 0.7359 0.6321 0.6625 0.5965 0.7638 0.7938 0.75 0.6797 0.74 0.64 0.79 0.67 0.81 rs3751364 COSM5425587 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7385 0.6316 0.6783 0.8313 0.5931 0.7566 0.7959 0.7491 0.6852 0.7400 0.6441 0.6909 0.8344 0.5999 0.7733 0.8016 0.7740 hom 6458.01 211 13 24234517 . A G 6458.01 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.633;DP=211;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1942;MQ=59.49;MQ0=0;MQRankSum=-0.412;QD=30.61;ReadPosRankSum=0.957;VQSLOD=7.4116;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,210:211:99:6435,502,0 13 24243200 24243200 T C exonic TNFRSF19 synonymous SNV TNFRSF19:NM_001204459:exon7:c.T813C:p.G271G,TNFRSF19:NM_001204458:exon9:c.T1209C:p.G403G,TNFRSF19:NM_018647:exon9:c.T1209C:p.G403G,TNFRSF19:NM_148957:exon9:c.T1209C:p.G403G 0.8 0.72 0.91 0.82 0.86 0.76 0.8562 0.7627 0.9325 0.8280 0.8427 0.8755 0.8634 0.8033 0.84 0.77 0.88 0.73 0.86 rs3751363 COSM4147640 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8627 0.7647 0.9284 0.8849 0.8301 0.8390 0.8796 0.8643 0.8062 0.8467 0.7604 0.9067 0.9073 0.8474 0.8407 0.8922 0.8697 hom 2950.83 106 13 24243200 . T C 2950.83 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3399;MQ=58.85;MQ0=0;QD=27.84;VQSLOD=6.7548;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:2984,256,0 13 24411772 24411772 T C exonic MIPEP nonsynonymous SNV MIPEP:NM_005932:exon13:c.A1462G:p.S488G 0.98 0.94 1. 1. 1. 0.99 0.9936 0.9569 0.9963 1 1 0.9978 0.9923 0.9920 0.99 0.96 1. 0.99 0.98 rs7333040 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.006 0.112 B 0.000 0.843 N 0.992 0.240 P -0.18 0.042 N 3.1 0.083 T 0.95 0.015 N 0.148 0.175 -0.918 0.459 T 0.000 0.000 T . . . 1.767 0.273 14.79 0.306 0.017 0.271 0.230 N c -0.522 -0.249 1.000 0.747 0.706 0.609 0 5.82 0.927 6.077 0.707 0.069 0.176 1.000 0.715 0.899 0.380 15.207 0.728 Metallopeptidase\x2c catalytic domain . . 0.9943 0.9556 0.9959 0.9916 1 1 0.9982 0.9931 0.9914 0.9878 0.9596 0.9964 0.9934 1 1 0.9991 0.9949 hom 8424.48 249 13 24411772 . T C 8424.48 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6067;MQ=59.67;MQ0=0;QD=33.83;VQSLOD=7.1922;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8424,650,0 13 24436475 24436475 C T exonic MIPEP nonsynonymous SNV MIPEP:NM_005932:exon9:c.G1019A:p.R340Q 0.066 0.058 0.072 0.001 0.13 0.07 0.1307 0.0683 0.0785 0.0005 0.1160 0.1782 0.1167 0.1027 0.11 0.062 0.13 0.098 0.025 rs11551114 . . . . . . . . . . . . . 0.707 0.041 T 0.034 0.191 B 0.009 0.133 B 0.015 0.284 N 1 0.090 P 1.105 0.287 L 3.22 0.070 T -0.68 0.195 N 0.053 0.035 -0.968 0.376 T 0.000 0.001 T . . . 1.261 0.217 12.07 0.911 0.198 0.034 0.084 N c -0.949 -0.927 1.000 0.416 0.706 0.609 0 1.51 0.220 0.276 0.183 -0.319 0.077 0.010 0.182 0.903 0.383 4.529 0.113 Neurolysin/Thimet oligopeptidase\x2c domain 2 ENSG00000205863.5|ENSG00000205861.7|ENSG00000205861.7|ENSG00000205863.5|ENSG00000205863.5|ENSG00000205861.7|ENSG00000205863.5|ENSG00000205861.7|ENSG00000027001.7|ENSG00000027001.7|ENSG00000027001.7|ENSG00000027001.7|ENSG00000027001.7|ENSG00000205861.7|ENSG00000027001.7|ENSG00000205863.5|ENSG00000205863.5|ENSG00000205861.7|ENSG00000205863.5|ENSG00000205861.7|ENSG00000205861.7|ENSG00000205863.5|ENSG00000205863.5|ENSG00000205861.7|ENSG00000205861.7|ENSG00000205861.7|ENSG00000205863.5|ENSG00000205861.7|ENSG00000205863.5|ENSG00000205861.7|ENSG00000027001.7|ENSG00000205863.5|ENSG00000205861.7|ENSG00000027001.7|ENSG00000205861.7|ENSG00000205863.5|ENSG00000027001.7|ENSG00000205861.7|ENSG00000027001.7|ENSG00000205863.5|ENSG00000027001.7|ENSG00000205863.5|ENSG00000205861.7|ENSG00000205861.7|ENSG00000205863.5|ENSG00000027001.7|ENSG00000205863.5|ENSG00000205861.7|ENSG00000027001.7|ENSG00000205863.5|ENSG00000205861.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid 0.0866 0.0504 0.0446 0.0822 0.0003 0.0769 0.1252 0.0787 0.0787 0.1013 0.0607 0.0632 0.0762 0 0.0916 0.1415 0.0890 het 259.09 34 13 24436475 . C T 259.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.071;DP=34;Dels=0.00;FS=3.176;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.106;QD=7.62;ReadPosRankSum=-0.106;VQSLOD=5.7258;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,13:34:99:289,0,539 13 25000617 25000617 C G exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon33:c.G4966C:p.A1656P 0.42 0.62 0.36 0.37 0.41 0.25 0.3766 0.5807 0.3037 0.3520 0.4220 0.3779 0.3744 0.2885 0.44 0.57 0.37 0.51 0.39 rs7571 COSM147645 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);2(large_intestine) . . . . . . . . . . . 0.416 0.099 T 0.002 0.090 B 0.002 0.063 B 0.174 0.173 N 1 0.090 P -0.35 0.031 N -2.39 0.884 D 0.03 0.066 N 0.072 0.086 -0.956 0.400 T 0.000 0.000 T . . . 0.228 0.116 4.968 0.623 0.068 0.007 0.029 N c -1.390 -1.476 0.002 0.087 0.732 0.924 0 -4.32 0.034 -1.643 0.021 -3.698 0.001 0.000 0.063 0.002 0.062 3.820 0.083 . ENSG00000102699.5|ENSG00000240868.1 Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.3730 0.5771 0.3211 0.3720 0.3630 0.4237 0.3758 0.3739 0.2862 0.4321 0.5750 0.3783 0.3567 0.3533 0.4257 0.3663 0.3876 het 1058.10 85 13 25000617 . C G 1058.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.183;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=58.68;MQ0=0;MQRankSum=-0.286;QD=12.45;ReadPosRankSum=-0.752;VQSLOD=5.6709;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,41:85:99:1088,0,1176 13 25008588 25008588 A G exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon31:c.T4691C:p.I1564T 0.95 0.89 0.97 0.99 0.95 0.96 0.9560 0.8909 0.9769 0.9983 0.9661 0.9544 0.9674 0.9622 0.93 0.89 0.96 0.94 0.97 rs1372085 COSM5021783 1(bone) . . . . . . . . . . . 0.489 0.080 T 0.0 0.026 B 0.0 0.013 B 0.270 0.038 N 1 0.090 P -0.55 0.024 N 4.73 0.017 T 1.01 0.014 N 0.022 0.005 -1.041 0.169 T 0.000 0.000 T . . . -1.339 0.021 0.004 0.519 0.046 0.007 0.029 N c -1.959 -1.964 0.001 0.077 0.732 0.924 0 -3.16 0.049 -1.522 0.023 -0.727 0.036 0.000 0.063 0.001 0.043 1.328 0.020 . . . 0.9580 0.8881 0.9755 0.9321 0.9991 0.9667 0.9557 0.9575 0.9611 0.9378 0.8900 0.9678 0.9139 0.9994 0.9639 0.9510 0.9481 hom 4173 125 13 25008588 . A G 4173 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9650;MQ=58.91;MQ0=0;QD=33.38;VQSLOD=9.3752;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:4173,325,0 13 25008630 25008630 A G exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon31:c.T4649C:p.L1550P 0.94 0.87 0.97 0.99 0.95 0.96 0.9551 0.8838 0.9765 0.9983 0.9661 0.9543 0.9648 0.9611 0.93 0.88 0.96 0.95 0.97 rs1822135 . . . . . . . . . . . . . 0.307 0.141 T 0.0 0.026 B 0.0 0.013 B 0.333 0.041 U 1 0.090 P 0 0.065 N 4.62 0.019 T 0.16 0.052 N 0.014 0.002 -1.066 0.102 T 0.000 0.000 T . . . -0.313 0.067 0.621 0.538 0.049 0.000 0.002 N c -1.628 -1.605 0.000 0.050 0.732 0.924 0 -0.141 0.127 -0.829 0.045 -2.600 0.002 0.000 0.063 0.000 0.016 5.110 0.140 . . . 0.9574 0.8819 0.9751 0.9313 0.9991 0.9669 0.9555 0.9580 0.9607 0.9363 0.8848 0.9678 0.9139 0.9994 0.9639 0.9508 0.9481 hom 4350.18 144 13 25008630 . A G 4350.18 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;QD=30.21;VQSLOD=8.6989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4349,355,0 13 25008903 25008903 G T exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon31:c.C4376A:p.S1459Y 0.94 0.87 0.97 0.99 0.95 0.96 0.9552 0.8834 0.9765 0.9982 0.9661 0.9541 0.9642 0.9612 . . . 0.95 0.93 rs9318536 COSM4590876 1(bone);21(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.052 0.210 B 0.037 0.218 B 0.004 0.010 U 1 0.090 P 0.55 0.145 N 4.55 0.020 T -0.4 0.138 N 0.246 0.301 -0.943 0.421 T 0.000 0.000 T . . . -1.083 0.029 0.011 0.515 0.045 0.041 0.095 N c -1.334 -1.408 0.000 0.050 0.707 0.730 0 -0.063 0.130 0.284 0.185 -0.516 0.050 0.001 0.137 0.000 0.016 5.283 0.149 . . . 0.9574 0.8817 0.9749 0.9310 0.9989 0.9669 0.9554 0.9578 0.9608 0.9363 0.8849 0.9676 0.9139 0.9994 0.9639 0.9509 0.9490 hom 770.77 25 13 25008903 . G T 770.77 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.95;MQ0=0;QD=30.83;VQSLOD=7.3151;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:69.16:804,69,0 13 25009099 25009099 A C exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon31:c.T4180G:p.S1394A 0.95 0.89 0.97 0.99 0.95 0.96 0.9559 0.8913 0.9768 0.9983 0.9661 0.9543 0.9647 0.9614 0.93 0.89 0.96 0.95 0.92 rs9511259 COSM5021784 1(bone) . . . . . . . . . . . 0.963 0.021 T 0.0 0.026 B 0.0 0.013 B 0.037 0.018 N 1 0.090 P -0.345 0.033 N 4.68 0.017 T -0.02 0.073 N 0.055 0.037 -0.957 0.397 T 0.000 0.000 T . . . -1.654 0.014 0.002 0.319 0.018 0.001 0.008 N c -1.933 -1.996 0.008 0.117 0.707 0.730 0 -4.03 0.037 -4.639 0.002 -2.603 0.002 0.000 0.063 0.000 0.016 0.088 0.000 . . . 0.9580 0.8893 0.9753 0.9312 0.9991 0.9669 0.9556 0.9579 0.9609 0.9382 0.8911 0.9678 0.9139 0.9994 0.9639 0.9512 0.9480 hom 2365.03 70 13 25009099 . A C 2365.03 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.48;MQ0=0;QD=33.79;VQSLOD=8.8988;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2398,184,0 13 25009297 25009297 G T exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon31:c.C3982A:p.P1328T 0.39 0.48 0.35 0.36 0.41 0.28 0.3687 0.4703 0.3003 0.3421 0.4225 0.3782 0.3733 0.3064 0.41 0.47 0.37 0.47 0.4 rs1050112 COSM3765682 1(liver);1(thyroid);3(large_intestine) . . . . . . . . . . . 0.881 0.025 T 0.007 0.131 B 0.007 0.121 B 0.000 0.005 U 1 0.090 P 0.55 0.145 N 4.68 0.017 T -0.51 0.160 N 0.07 0.058 -0.938 0.429 T 0.000 0.000 T . . . -2.160 0.006 0.001 0.608 0.064 0.028 0.075 N c -1.889 -1.975 0.004 0.105 0.707 0.730 0 -4.69 0.030 -1.872 0.017 -1.104 0.018 0.000 0.063 0.000 0.016 8.791 0.338 . ENSG00000102699.5|ENSG00000240868.1 Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.3669 0.4629 0.3166 0.3708 0.3531 0.4241 0.3762 0.3707 0.3046 0.4003 0.4688 0.3675 0.35 0.3405 0.4244 0.3656 0.3763 het 2325.40 165 13 25009297 . G T 2325.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.525;DP=165;Dels=0.00;FS=11.758;HRun=0;HaplotypeScore=6.3130;MQ=59.35;MQ0=0;MQRankSum=-0.466;QD=14.09;ReadPosRankSum=0.125;VQSLOD=4.0750;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,91:165:99:2355,0,1956 13 25009441 25009441 C G exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon31:c.G3838C:p.G1280R 0.39 0.48 0.35 0.36 0.41 0.28 0.3686 0.4705 0.3003 0.3411 0.4223 0.3781 0.3742 0.3064 0.41 0.47 0.37 0.47 0.4 rs13428 COSM147646 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);1(prostate);6(large_intestine) . . . . . . . . . . . 0.421 0.098 T 0.207 0.282 B 0.037 0.218 B 0.378 0.044 U 1 0.090 P 0.695 0.181 N 4.7 0.017 T -0.71 0.202 N 0.043 0.023 -0.988 0.330 T 0.000 0.000 T . . . -0.737 0.043 0.059 0.531 0.048 0.016 0.052 N c -1.405 -1.510 0.000 0.054 0.707 0.730 0 -1.34 0.086 -1.157 0.032 -1.045 0.020 0.000 0.063 0.000 0.016 5.028 0.136 . ENSG00000102699.5|ENSG00000240868.1 Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.3668 0.4631 0.3165 0.3705 0.3531 0.4240 0.3762 0.3704 0.3045 0.4007 0.4695 0.3693 0.3543 0.3389 0.4250 0.3659 0.3760 het 1681.92 166 13 25009441 . C G 1681.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.750;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1871;MQ=59.61;MQ0=0;MQRankSum=0.321;QD=10.13;ReadPosRankSum=-2.720;VQSLOD=4.2964;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,69:166:99:1712,0,2503 13 25009485 25009485 C G exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon31:c.G3794C:p.G1265A 0.39 0.49 0.35 0.36 0.42 0.28 0.3696 0.4755 0.3017 0.3412 0.4224 0.3790 0.3753 0.3064 0.41 0.48 0.37 0.47 0.37 rs1050110 COSM3765683 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.011 N 1 0.090 P 0.805 0.203 L 4.75 0.016 T 0.36 0.037 N 0.027 0.009 -0.935 0.434 T 0.000 0.000 T . . . -2.298 0.005 0.001 0.577 0.057 0.010 0.037 N c -1.940 -2.012 0.001 0.072 0.707 0.730 0 -2.08 0.068 -2.898 0.008 -2.138 0.004 0.000 0.063 0.000 0.016 4.05 0.092 . ENSG00000102699.5|ENSG00000240868.1 Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.3676 0.4678 0.3181 0.3706 0.3530 0.4241 0.3767 0.3731 0.3043 0.4030 0.4746 0.3723 0.3543 0.3403 0.4249 0.3671 0.3811 het 1801.91 163 13 25009485 . C G 1801.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.421;DP=163;Dels=0.00;FS=1.279;HRun=1;HaplotypeScore=4.1500;MQ=59.60;MQ0=0;MQRankSum=1.537;QD=11.05;ReadPosRankSum=1.897;VQSLOD=4.4557;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,73:163:99:1832,0,2317 13 25020863 25020863 G A exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon27:c.C3322T:p.R1108C 0.88 0.67 0.94 0.97 0.94 0.96 0.9295 0.7001 0.9620 0.9811 0.9627 0.9446 0.9449 0.9484 0.86 0.71 0.94 0.83 0.97 rs9318554 COSM5021785 1(bone) . . . . . . . . . . . 0.273 0.159 T 0.0 0.026 B 0.0 0.013 B 0.361 0.043 N 1 0.090 P -1.4 0.006 N -0.08 0.639 T 0.87 0.017 N 0.047 0.078 -0.963 0.387 T 0.000 0.000 T . . . 1.741 0.270 14.64 0.848 0.150 0.010 0.039 N c -1.585 -1.491 0.000 0.052 0.732 0.924 0 -0.387 0.118 -0.260 0.087 -0.218 0.098 0.049 0.212 0.941 0.415 1.916 0.031 . . . 0.9349 0.6915 0.9603 0.9079 0.9807 0.9637 0.9464 0.9400 0.9478 0.8790 0.7033 0.9486 0.8940 0.9821 0.9594 0.9437 0.9296 hom 1733.22 59 13 25020863 . G A 1733.22 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=29.38;VQSLOD=8.8889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1766,132,0 13 25027744 25027744 A G exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon23:c.T2807C:p.M936T 0.94 0.83 0.98 0.99 0.97 0.97 0.9619 0.8653 0.9832 0.9983 0.9740 0.9659 0.9702 0.9674 0.93 0.87 0.97 0.81 0.98 rs4770684 COSM5021786 1(bone) . . . . . . . . . . . 0.465 0.086 T 0.001 0.067 B 0.003 0.080 B 0.064 0.022 N 1 0.090 P 1.175 0.300 L 3.21 0.071 T -0.97 0.258 N 0.038 0.023 -1.000 0.300 T 0.000 0.000 T . . . -1.921 0.009 0.001 0.330 0.019 0.006 0.028 N c -2.118 -2.225 0.998 0.370 0.732 0.924 0 -8.59 0.008 -1.824 0.018 -2.767 0.002 0.000 0.063 0.000 0.016 5.619 0.166 von Willebrand factor\x2c type A . . 0.9648 0.8617 0.9823 0.9441 0.9991 0.9731 0.9677 0.9662 0.9679 0.9383 0.8623 0.9749 0.9305 0.9994 0.9713 0.9650 0.9571 hom 5050.99 179 13 25027744 . A G 5050.99 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6188;MQ=59.30;MQ0=0;QD=28.22;VQSLOD=7.0328;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,178:179:99:5050,406,0 13 25029218 25029218 C T exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon22:c.G2695A:p.A899T 0.65 0.45 0.81 0.65 0.78 0.7 0.7420 0.4902 0.8732 0.6840 0.7789 0.7695 0.7599 0.7120 0.68 0.5 0.77 0.63 0.8 rs2275660 COSM4147649 1(thyroid) . . . . . . . . . . . 0.065 0.363 T 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 0.000 0.537 P 2.615 0.767 M 3.11 0.082 T -3.26 0.654 D 0.229 0.281 -1.128 0.019 T 0.000 0.000 T . . . 6.080 0.837 28.2 0.999 0.965 0.957 0.655 D c 0.432 0.307 1.000 0.446 0.732 0.924 0 4.72 0.591 6.014 0.702 0.867 0.377 1.000 0.715 0.026 0.142 15.285 0.734 von Willebrand factor\x2c type A . . 0.7537 0.4876 0.8713 0.7875 0.6863 0.7750 0.7698 0.7572 0.7098 0.6855 0.4895 0.8305 0.7715 0.6820 0.7693 0.7665 0.7444 het 3108.84 250 13 25029218 . C T 3108.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.001;DP=250;DS;Dels=0.00;FS=1.002;HRun=0;HaplotypeScore=8.0612;MQ=58.85;MQ0=0;MQRankSum=0.961;QD=12.44;ReadPosRankSum=-0.115;VQSLOD=4.8745;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:3139,0,3599 13 25029295 25029295 C T exonic PARP4 nonsynonymous SNV PARP4:NM_006437:exon22:c.G2618A:p.S873N 0.22 0.21 0.15 0.32 0.18 0.25 0.1965 0.2104 0.0962 0.2938 0.1935 0.1890 0.1954 0.2393 0.19 0.21 0.19 0.18 0.17 rs7140044 COSM4417695 3(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 0.527 0.071 T 0.0 0.026 B 0.0 0.013 B 0.084 0.024 N 1 0.090 P -1.1 0.010 N 4.56 0.020 T -0.01 0.072 N 0.031 0.012 -0.902 0.478 T 0.000 0.000 T . . . -1.207 0.025 0.006 0.571 0.056 0.006 0.027 N c -1.781 -1.837 0.522 0.211 0.732 0.924 0 -6.65 0.016 -0.385 0.074 -1.311 0.013 0.000 0.063 0.000 0.016 4.287 0.102 . ENSG00000102699.5 Esophagus_Mucosa 0.1908 0.2083 0.0960 0.1461 0.2916 0.1970 0.1901 0.1903 0.2415 0.1998 0.2083 0.1220 0.1523 0.2904 0.1986 0.1913 0.1926 het 3035.76 214 13 25029295 . C T 3035.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.053;DP=214;DS;Dels=0.00;FS=1.335;HRun=1;HaplotypeScore=3.9665;MQ=59.15;MQ0=0;MQRankSum=0.340;QD=14.19;ReadPosRankSum=-1.640;VQSLOD=5.7580;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,111:214:99:3066,0,3043 13 25052261 25052261 C T exonic PARP4 synonymous SNV PARP4:NM_006437:exon13:c.G1602A:p.S534S 0.54 0.43 0.57 0.6 0.5 0.67 0.5504 0.4355 0.6111 0.6258 0.5173 0.5310 0.5498 0.6327 0.5 0.43 0.53 0.47 0.49 rs4770696 COSM5008473 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5503 0.4345 0.5924 0.5049 0.6183 0.5161 0.5320 0.5424 0.6338 0.5118 0.4333 0.5586 0.5199 0.6196 0.5209 0.5401 0.5256 het 1234.31 111 13 25052261 . C T 1234.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.885;DP=111;Dels=0.00;FS=1.596;HRun=0;HaplotypeScore=2.2931;MQ=58.96;MQ0=0;MQRankSum=1.023;QD=11.12;ReadPosRankSum=0.311;VQSLOD=6.3512;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,53:111:99:1264,0,1503 13 25075859 25075859 C T exonic PARP4 synonymous SNV PARP4:NM_006437:exon3:c.G246A:p.R82R 0.61 0.62 0.6 0.61 0.51 0.68 0.5724 0.5941 0.6261 0.6305 0.5207 0.5389 0.5673 0.6472 0.55 0.58 0.54 0.64 0.51 rs1539096 COSM3753627 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5693 0.5938 0.6072 0.5102 0.6218 0.5192 0.5404 0.5602 0.6481 0.5612 0.5867 0.5752 0.53 0.6284 0.5250 0.5483 0.5460 het 1350.89 111 13 25075859 . C T 1350.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.630;DP=111;Dels=0.00;FS=5.908;HRun=0;HaplotypeScore=1.8625;MQ=58.78;MQ0=0;MQRankSum=-0.458;QD=12.17;ReadPosRankSum=-0.599;VQSLOD=5.2815;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,53:111:99:1381,0,1726 13 25272870 25272870 C T exonic ATP12A synonymous SNV ATP12A:NM_001185085:exon12:c.C1605T:p.I535I,ATP12A:NM_001676:exon12:c.C1587T:p.I529I 0.25 0.46 0.16 0.16 0.17 0.2 0.1777 0.4303 0.0942 0.1901 0.1322 0.1562 0.1796 0.1761 0.24 0.41 0.15 0.27 0.082 rs2289901 COSM3753629;COSM4417102 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1681 0.4419 0.0993 0.1771 0.1941 0.1256 0.1529 0.1690 0.1750 0.2283 0.4354 0.1181 0.1854 0.1935 0.1275 0.1450 0.1864 het 2475.03 190 13 25272870 . C T 2475.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.243;DP=190;Dels=0.00;FS=0.576;HRun=1;HaplotypeScore=2.7855;MQ=59.68;MQ0=0;MQRankSum=-0.148;QD=13.03;ReadPosRankSum=-0.754;VQSLOD=6.4838;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,94:190:99:2505,0,2492 13 25356053 25356053 T C exonic RNF17 synonymous SNV RNF17:NM_001184993:exon6:c.T582C:p.F194F,RNF17:NM_031277:exon6:c.T582C:p.F194F 0.44 0.49 0.47 0.43 0.37 0.42 0.4328 0.4713 0.5273 0.4738 0.4474 0.4061 0.4338 0.4231 0.43 0.47 0.41 0.5 0.34 rs9707144 COSM4147655;COSM4147657;COSM4147656 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4335 0.4705 0.5253 0.4598 0.4667 0.4289 0.3982 0.4185 0.4219 0.4282 0.4723 0.5254 0.4669 0.4833 0.4196 0.3931 0.4155 hom 1552.62 56 13 25356053 . T C 1552.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.114;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=1.609;QD=27.73;ReadPosRankSum=-0.186;VQSLOD=7.7148;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,55:56:99:1586,105,0 13 25367282 25367282 A C exonic RNF17 nonsynonymous SNV RNF17:NM_001184993:exon10:c.A1038C:p.K346N,RNF17:NM_031277:exon10:c.A1038C:p.K346N 0.16 0.34 0.12 0.001 0.16 0.089 0.1499 0.3263 0.1064 0.0002 0.1283 0.1643 0.1564 0.0973 0.22 0.33 0.16 0.21 0.16 rs1451568 COSM3736083;COSM3736085;COSM3736084 1(skin);1(thyroid) . . . . . . . . . . . 0.082 0.381 T 0.001 0.302 B 0.002 0.261 B 0.059 0.223 N 1 0.090 P 1.495 0.376 L 3.43 0.196 T -0.2 0.221 N 0.018 0.005 -0.919 0.457 T 0.000 0.000 T . . . -0.977 0.033 0.018 0.746 0.104 0.193 0.204 N c -1.169 -1.159 0.000 0.029 0.487 0.133 0 -0.125 0.128 0.335 0.194 -0.123 0.113 0.414 0.261 0.247 0.227 0.835 0.011 . . . 0.1436 0.3275 0.1128 0.1672 0.0002 0.1239 0.1638 0.1530 0.0979 0.1901 0.3284 0.1313 0.1722 0 0.1191 0.1527 0.1548 het 3200.67 208 13 25367282 . A C 3200.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.336;DP=208;Dels=0.00;FS=0.533;HRun=0;HaplotypeScore=3.7675;MQ=58.51;MQ0=1;MQRankSum=1.114;QD=15.39;ReadPosRankSum=1.131;VQSLOD=5.5109;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,122:208:99:3231,0,2151 13 25367301 25367301 C T exonic RNF17 synonymous SNV RNF17:NM_001184993:exon10:c.C1057T:p.L353L,RNF17:NM_031277:exon10:c.C1057T:p.L353L 0.25 0.11 0.32 0.35 0.21 0.33 0.2683 0.1084 0.3894 0.3839 0.3140 0.2394 0.2665 0.3228 0.2 0.11 0.24 0.25 0.19 rs1158061 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2761 0.1075 0.3829 0.2913 0.3786 0.3008 0.2334 0.2570 0.3210 0.2228 0.1102 0.3699 0.2947 0.4 0.2987 0.2394 0.2628 het 2370.54 215 13 25367301 . C T 2370.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.280;DP=215;Dels=0.00;FS=5.869;HRun=1;HaplotypeScore=0.0000;MQ=58.63;MQ0=1;MQRankSum=1.737;QD=11.03;ReadPosRankSum=-0.954;VQSLOD=4.8641;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,92:215:99:2401,0,3390 13 25419176 25419176 A G exonic RNF17 synonymous SNV RNF17:NM_001184993:exon22:c.A3060G:p.T1020T,RNF17:NM_031277:exon22:c.A3060G:p.T1020T 0.86 0.85 0.83 0.84 0.87 0.93 0.8671 0.8517 0.8300 0.8508 0.8353 0.8689 0.8631 0.9174 0.86 0.86 0.86 0.88 0.84 rs6490984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8651 0.8527 0.8347 0.9546 0.8484 0.8285 0.8627 0.8706 0.9195 0.8564 0.8520 0.8389 0.9669 0.8486 0.8285 0.8634 0.8809 hom 2637.10 92 13 25419176 . A G 2637.10 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.866;DP=92;Dels=0.00;FS=4.724;HRun=0;HaplotypeScore=2.9950;MQ=59.59;MQ0=0;MQRankSum=1.694;QD=28.66;ReadPosRankSum=1.280;VQSLOD=3.9965;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,91:92:99:2670,174,0 13 25466955 25466955 T C exonic CENPJ synonymous SNV CENPJ:NM_018451:exon10:c.A3042G:p.E1014E 0.48 0.24 0.58 0.7 0.51 0.49 0.5395 0.2882 0.6548 0.7101 0.6355 0.5368 0.5738 0.4977 0.45 0.29 0.54 0.42 0.48 rs3742165 COSM4147658 1(thyroid) Benign|Benign|Benign not_specified|Primary_Microcephaly\x2c_Recessive|Seckel_syndrome RCV000145573.3|RCV000298966.1|RCV000402333.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN169374|CN239428|C0265202:ORPHA808:57917004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5494 0.2832 0.6499 0.5041 0.7124 0.6258 0.5345 0.5410 0.4957 0.4843 0.2916 0.6429 0.5 0.7215 0.6160 0.5295 0.5355 hom 4614.38 155 13 25466955 . T C 4614.38 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4134;MQ=59.84;MQ0=0;QD=29.77;VQSLOD=7.8720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4614,355,0 13 25480142 25480142 G A exonic CENPJ synonymous SNV CENPJ:NM_018451:exon7:c.C2034T:p.V678V . . . . . . 5.776e-05 9.614e-05 0 0 0 9.003e-05 0 0 . . . . . rs753265048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.658e-05 6.537e-05 0 0 0 4.487e-05 6.274e-05 0 0 . . . . . . . . het 928.64 68 13 25480142 . G A 928.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.410;DP=68;Dels=0.00;FS=6.892;HRun=1;HaplotypeScore=1.5762;MQ=59.04;MQ0=0;MQRankSum=-0.583;QD=13.66;ReadPosRankSum=-0.251;VQSLOD=3.4163;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,34:68:99:959,0,1017 13 25825889 25825889 T C exonic MTMR6 synonymous SNV MTMR6:NM_004685:exon13:c.A1503G:p.Q501Q 0.6 0.29 0.59 0.7 0.84 0.67 0.7476 0.3569 0.5364 0.7045 0.8498 0.8505 0.7716 0.7010 0.68 0.35 0.85 0.62 0.59 rs4312169 COSM147649 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7481 0.3484 0.5564 0.8478 0.7039 0.8542 0.8466 0.7732 0.6997 0.6969 0.3606 0.6193 0.8444 0.7095 0.8511 0.8491 0.8045 hom 1448.21 41 13 25825889 . T C 1448.21 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9768;MQ=60.00;MQ0=0;QD=35.32;VQSLOD=9.4956;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:41:99:1481,117,0 13 25831888 25831888 T C exonic MTMR6 nonsynonymous SNV MTMR6:NM_004685:exon8:c.A955G:p.I319V 0.49 0.14 0.51 0.57 0.84 0.52 0.6992 0.2331 0.4529 0.5899 0.8369 0.8422 0.7489 0.5843 0.64 0.24 0.84 0.49 0.78 rs7995033 COSM147651 1(stomach);1(large_intestine) . . . . . . . . . . . 0.612 0.054 T 0.0 0.026 B 0.001 0.040 B 0.000 0.504 D 0.073 0.368 P -0.27 0.037 N -2.58 0.898 D -0.11 0.087 N 0.06 0.044 -0.951 0.408 T 0.000 0.000 T . . . 0.442 0.136 6.969 0.893 0.181 0.847 0.435 D c -0.606 -0.374 0.898 0.260 0.707 0.730 0 3.03 0.339 1.422 0.342 1.061 0.807 0.993 0.376 1.000 0.888 8.482 0.320 Myotubularin-like phosphatase domain|Protein-tyrosine phosphatase-like ENSG00000139505.10|ENSG00000139505.10|ENSG00000139505.10|ENSG00000139505.10|ENSG00000139505.10|ENSG00000139505.10|ENSG00000139505.10|ENSG00000139505.10|ENSG00000139505.10|ENSG00000139505.10|ENSG00000139505.10|ENSG00000139505.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.6995 0.2230 0.4689 0.8370 0.5873 0.8430 0.8396 0.7446 0.5856 0.6478 0.2324 0.5478 0.8344 0.6064 0.8430 0.8422 0.7724 hom 1278.67 43 13 25831888 . T C 1278.67 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.42;MQ0=0;QD=29.74;VQSLOD=9.1480;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1312,102,0 13 25876011 25876011 G A exonic NUP58 nonsynonymous SNV NUP58:NM_001008564:exon1:c.G100A:p.A34T,NUP58:NM_014089:exon1:c.G100A:p.A34T 0.37 0.069 0.36 0.56 0.51 0.43 0.4940 0.1445 0.3961 0.6072 0.5485 0.5424 0.5024 0.4911 0.4 0.14 0.53 0.35 0.44 rs11556093 COSM3753633 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.21 0.224 T 0.0 0.067 B 0.001 0.040 B 0.045 0.236 N 0.153 0.351 P -0.46 0.027 N 1.43 0.354 T -0.21 0.103 N 0.045 0.298 -0.926 0.447 T 0.000 0.000 T . . . 0.481 0.140 7.283 0.879 0.170 0.035 0.085 N c -1.214 -1.210 1.000 0.747 0.442 0.072 0 -0.146 0.127 -0.214 0.092 0.029 0.149 0.001 0.137 0.009 0.108 3.944 0.088 . . . 0.4808 0.1284 0.3784 0.5615 0.5957 0.5224 0.5282 0.4907 0.4751 0.4141 0.1349 0.4151 0.5364 0.6098 0.5299 0.5239 0.4459 het 159.18 17 13 25876011 . G A 159.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.489;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.439;QD=9.36;ReadPosRankSum=0.146;VQSLOD=11.5671;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,7:17:99:189,0,329 13 26148966 26148966 C T exonic ATP8A2 synonymous SNV ATP8A2:NM_001313741:exon19:c.C1563T:p.F521F,ATP8A2:NM_016529:exon19:c.C1683T:p.F561F 0.54 0.68 0.61 0.14 0.71 0.51 0.6287 0.6880 0.5431 0.1018 0.6899 0.7165 0.6470 0.5475 0.71 0.7 0.71 0.56 0.64 rs6491066 COSM4419807 1(haematopoietic_and_lymphoid_tissue) Likely benign not_specified RCV000116458.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6221 0.6896 0.5449 0.7049 0.0997 0.6841 0.7162 0.6554 0.5448 0.6729 0.6978 0.5805 0.72 0.1 0.6735 0.7251 0.6640 het 1342.71 127 13 26148966 . C T 1342.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.703;DP=127;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.16;MQ0=0;MQRankSum=0.846;QD=10.57;ReadPosRankSum=0.977;VQSLOD=6.6545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,57:127:99:1373,0,1644 13 26273385 26273385 G C exonic ATP8A2 synonymous SNV ATP8A2:NM_001313741:exon25:c.G2166C:p.L722L,ATP8A2:NM_016529:exon25:c.G2286C:p.L762L 0.99 0.95 1. 1. 1. 1. 0.9973 0.9685 0.9988 1 1 0.9999 0.9989 1 0.99 0.97 1. 0.98 1. rs6491088 . . Likely benign not_specified RCV000116459.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9976 0.9671 0.9982 1 1 1 0.9999 0.9991 1 0.9919 0.9715 0.9988 1 1 1 1 0.9990 hom 3704.31 118 13 26273385 . G C 3704.31 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6777;MQ=58.43;MQ0=0;QD=31.39;VQSLOD=8.2256;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3704,283,0 13 26788114 26788114 A G exonic RNF6 synonymous SNV RNF6:NM_005977:exon5:c.T1905C:p.C635C,RNF6:NM_183043:exon5:c.T1905C:p.C635C,RNF6:NM_183044:exon5:c.T1905C:p.C635C 0.19 0.3 0.095 0.11 0.16 0.21 0.1831 0.2866 0.0835 0.1152 0.1548 0.1844 0.1916 0.2287 0.21 0.28 0.18 0.22 0.25 rs301047 COSM3753634 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1766 0.2890 0.0906 0.2640 0.1120 0.1549 0.1795 0.1824 0.2275 0.1980 0.2846 0.1348 0.2781 0.1106 0.1490 0.1728 0.1602 het 2178.54 179 13 26788114 . A G 2178.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.244;DP=179;Dels=0.00;FS=3.469;HRun=0;HaplotypeScore=1.9305;MQ=58.54;MQ0=0;MQRankSum=0.870;QD=12.17;ReadPosRankSum=0.650;VQSLOD=5.9853;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,82:179:99:2209,0,2570 13 28009031 28009031 G C exonic GTF3A nonsynonymous SNV GTF3A:NM_002097:exon7:c.G733C:p.V245L 0.17 0.21 0.24 0.091 0.25 0.09 0.2233 0.1989 0.2569 0.0834 0.2644 0.2609 0.2256 0.1198 0.25 0.21 0.27 0.15 . rs7323 COSM1366159 3(prostate);1(large_intestine) . . . . . . . . . . . 0.01 0.564 D 0.854 0.451 P 0.22 0.361 B 0.007 0.315 N . . . 1.255 0.319 L 3.01 0.091 T -2.24 0.501 N 0.121 0.160 -0.875 0.502 T 0.000 0.000 T . . . 1.165 0.206 11.56 0.991 0.520 0.955 0.649 D c -0.282 -0.314 0.997 0.349 0.707 0.730 0 2.92 0.329 3.669 0.541 1.048 0.713 1.000 0.715 0.433 0.260 10.520 0.439 . ENSG00000122033.10|ENSG00000203602.1|ENSG00000122033.10 Adipose_Subcutaneous|Brain_Cerebellum|Muscle_Skeletal 0.2266 0.1971 0.2524 0.2256 0.0834 0.2669 0.2659 0.2272 0.1219 0.2360 0.1979 0.2518 0.2550 0.0933 0.2629 0.2666 0.2281 het 958.21 82 13 28009031 . G C 958.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.416;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=0.238;QD=11.69;ReadPosRankSum=-0.491;VQSLOD=6.7817;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,36:82:99:988,0,1315 13 28009920 28009920 G C exonic MTIF3 nonsynonymous SNV MTIF3:NM_001166261:exon5:c.C729G:p.F243L,MTIF3:NM_001166262:exon5:c.C729G:p.F243L,MTIF3:NM_152912:exon5:c.C729G:p.F243L,MTIF3:NM_001166263:exon6:c.C729G:p.F243L 0.82 0.89 0.68 0.58 0.95 0.92 0.8806 0.9043 0.6133 0.5348 0.9406 0.9535 0.8645 0.9158 0.94 0.91 0.96 0.8 0.96 rs1218825 COSM4415909 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.293 N 1 0.090 P -2.11 0.002 N 1.77 0.258 T 1.8 0.005 N 0.032 0.012 -0.961 0.389 T 0.000 0.000 T . . . -1.198 0.025 0.007 0.568 0.055 0.030 0.079 N c -1.867 -1.642 0.884 0.257 0.707 0.730 0 3.0 0.336 0.489 0.219 -0.898 0.027 0.989 0.365 0.056 0.168 10.075 0.413 Translation initiation factor 3\x2c C-terminal . . 0.8687 0.9049 0.6258 0.9572 0.5358 0.9325 0.9540 0.8928 0.9143 0.9085 0.9098 0.6814 0.9636 0.5131 0.9356 0.9543 0.9246 hom 6036.01 172 13 28009920 . G C 6036.01 Mask AC=2;AF=1.00;AN=2;DP=172;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2920;MQ=59.08;MQ0=0;QD=35.09;VQSLOD=8.7578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:172:99:5991,463,0 13 28143229 28143229 A G exonic LNX2 nonsynonymous SNV LNX2:NM_153371:exon3:c.T592C:p.S198P 0.53 0.68 0.38 0.46 0.57 0.46 0.5212 0.6680 0.3584 0.4664 0.5419 0.5449 0.5485 0.4653 0.59 0.67 0.55 0.53 0.6 rs8002697 COSM4152735 1(kidney);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 1.000 0.191 P -1.415 0.006 N 3.36 0.059 T 0.33 0.039 N 0.01 0.001 -1.065 0.105 T 0.000 0.000 T . . . -0.865 0.037 0.031 0.137 0.003 0.038 0.091 N c -1.454 -1.264 0.998 0.357 0.706 0.609 0 3.03 0.339 1.967 0.399 -0.802 0.032 1.000 0.715 0.074 0.178 10.560 0.441 . ENSG00000186184.11|ENSG00000186184.11|ENSG00000186184.11|ENSG00000186184.11 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5145 0.6671 0.3717 0.5921 0.4620 0.5388 0.5441 0.5328 0.4713 0.5792 0.6724 0.3729 0.6258 0.4719 0.5312 0.5605 0.5441 hom 8158.04 250 13 28143229 . A G 8158.04 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8638;MQ=59.57;MQ0=0;QD=32.63;VQSLOD=8.8549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8157,644,0 13 28537317 28537317 G A exonic CDX2 nonsynonymous SNV CDX2:NM_001265:exon3:c.C877T:p.P293S 0.73 0.46 0.73 0.82 0.82 0.9 0.8022 0.5077 0.7971 0.8157 0.8528 0.8197 0.8274 0.8917 0.71 0.5 0.81 0.62 0.8 rs1805107 COSM3765687 1(liver) . . . . . . . . . . . 0.134 0.263 T 0.437 0.340 B 0.08 0.274 B 0.061 0.222 N 0.992 0.240 P 0.55 0.145 N -2.69 0.905 D -1.53 0.372 N 0.012 0.263 -0.929 0.443 T 0.000 0.000 T . . . 1.998 0.301 16.20 0.980 0.371 0.501 0.283 D c -0.603 -0.535 0.994 0.333 0.598 0.340 0 2.32 0.278 0.617 0.239 -0.258 0.088 0.000 0.063 0.978 0.483 2.277 0.038 . ENSG00000183463.5 Adipose_Subcutaneous 0.8068 0.5097 0.7905 0.8221 0.8098 0.8520 0.8183 0.8061 0.8910 0.7308 0.5070 0.7757 0.7881 0.8078 0.8514 0.8148 0.8241 het 1176.83 91 13 28537317 . G A 1176.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.546;DP=91;Dels=0.00;FS=2.771;HRun=0;HaplotypeScore=2.5326;MQ=58.34;MQ0=0;MQRankSum=2.564;QD=12.93;ReadPosRankSum=-1.308;VQSLOD=4.7127;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,48:91:99:1207,0,1070 13 28608459 28608459 T C exonic FLT3 synonymous SNV FLT3:NM_004119:exon13:c.A1683G:p.L561L 0.14 0.24 0.04 0.13 0.031 0.2 0.0823 0.2191 0.0304 0.1305 0.0327 0.0430 0.0639 0.1866 0.096 0.21 0.038 0.2 0.049 rs34374211 COSM19740 7(haematopoietic_and_lymphoid_tissue);1(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0763 0.2256 0.0309 0.0762 0.1247 0.0373 0.0404 0.0606 0.1855 0.1007 0.2274 0.0489 0.0728 0.1068 0.0372 0.0466 0.0706 het 1416.50 111 13 28608459 . T C 1416.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.881;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7473;MQ=58.75;MQ0=0;MQRankSum=0.310;QD=12.76;ReadPosRankSum=-1.336;VQSLOD=5.2037;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,55:111:99:1446,0,1447 13 28624294 28624294 G A exonic FLT3 nonsynonymous SNV FLT3:NM_004119:exon6:c.C680T:p.T227M 0.56 0.28 0.61 0.77 0.58 0.66 0.5988 0.3338 0.6219 0.7669 0.5893 0.6048 0.6090 0.6402 0.52 0.34 0.61 0.51 0.56 rs1933437 COSM5019176 18(soft_tissue);1(large_intestine) not provided not_specified RCV000121129.1 MedGen CN169374 . . . . . . 0.042 0.416 D 0.999 0.764 D 0.879 0.606 P 0.001 0.426 D 0.509 0.316 P 0.895 0.225 L -1.23 0.789 T -1.36 0.338 N 0.333 0.395 -0.903 0.477 T 0.000 0.000 T . . . 4.144 0.556 23.8 0.995 0.703 0.926 0.558 D c -0.068 -0.112 1.000 0.747 0.539 0.216 0 3.85 0.434 3.785 0.549 0.108 0.203 1.000 0.715 0.613 0.291 11.157 0.475 . ENSG00000122025.10|ENSG00000122025.10|ENSG00000122025.10|ENSG00000122025.10 Brain_Cerebellum|Brain_Cortex|Pancreas|Skin_Sun_Exposed_Lower_leg 0.6052 0.3361 0.6139 0.5767 0.7653 0.6023 0.6074 0.5865 0.6464 0.5435 0.3404 0.6154 0.5861 0.7751 0.6133 0.6125 0.5908 het 1389.06 108 13 28624294 . G A 1389.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.228;DP=108;Dels=0.00;FS=5.134;HRun=0;HaplotypeScore=0.8667;MQ=59.36;MQ0=0;MQRankSum=-0.271;QD=12.86;ReadPosRankSum=0.209;VQSLOD=6.1355;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,51:108:99:1419,0,1480 13 28636084 28636084 G A exonic FLT3 synonymous SNV FLT3:NM_004119:exon3:c.C288T:p.D96D 0.96 0.87 0.97 1. 0.99 0.99 0.9827 0.8969 0.9907 0.9986 0.9961 0.9880 0.9967 0.9956 0.96 0.9 0.99 0.92 0.98 rs7338903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9851 0.8960 0.9904 0.9946 0.9988 0.9960 0.9873 0.9889 0.9958 0.9662 0.9027 0.9869 0.9967 0.9994 0.9957 0.9893 0.9898 hom 4405.54 132 13 28636084 . G A 4405.54 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.65;MQ0=0;QD=33.38;VQSLOD=9.3045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4405,358,0 13 28883061 28883061 G A exonic FLT1 synonymous SNV FLT1:NM_002019:exon28:c.C3639T:p.Y1213Y 0.73 0.28 0.83 1. 0.8 0.93 0.7921 0.3460 0.8780 0.9985 0.7913 0.7958 0.8046 0.8888 0.65 0.37 0.79 0.63 0.66 rs7993418 COSM5021791;COSM5021792 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8045 0.3437 0.8750 0.8506 0.9987 0.7838 0.7941 0.7977 0.8872 0.6798 0.3548 0.8433 0.8477 0.9969 0.7871 0.7888 0.7990 hom 2467.36 80 13 28883061 . G A 2467.36 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=30.84;VQSLOD=9.1991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2500,196,0 13 29898768 29898768 A C exonic MTUS2 nonsynonymous SNV MTUS2:NM_001033602:exon5:c.A2855C:p.Q952P 0.77 0.47 0.86 0.91 0.85 0.88 0.8564 0.5840 0.8818 0.9092 0.8554 0.8779 0.8442 0.8889 0.77 0.54 0.88 0.58 . rs928661 COSM3931812 1(urinary_tract) . . . . . . . . . . . 0.003 0.682 D 0.019 0.167 B 0.018 0.173 B 0.001 0.397 N 1.000 0.203 P 2.135 0.597 M 2.43 0.153 T -2.75 0.584 D 0.153 0.182 -1.052 0.138 T 0.000 0.000 T . . . 4.136 0.555 23.8 0.994 0.645 0.198 0.206 N c -0.555 -0.522 0.000 0.050 0.554 0.283 0 3.53 0.394 2.277 0.428 1.113 0.880 0.871 0.306 0.866 0.362 8.252 0.307 . ENSG00000179141.5 Thyroid 0.8521 0.5168 0.8798 0.8634 0.9071 0.8468 0.8726 0.8463 0.8815 0.7745 0.5275 0.8628 0.8667 0.9043 0.8517 0.874 0.8510 hom 408.98 13 13 29898768 . A C 408.98 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=31.46;VQSLOD=8.4385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:36.10:442,36,0 13 30091714 30091714 G A exonic SLC7A1 synonymous SNV SLC7A1:NM_003045:exon10:c.C1506T:p.L502L 0.91 0.79 0.95 0.96 0.99 0.92 0.9598 0.8093 0.9503 0.9466 0.9985 0.9874 0.9692 0.9408 0.93 0.82 0.98 0.89 0.93 rs2482089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9640 0.8059 0.9571 0.9996 0.9503 0.9982 0.9856 0.9710 0.9417 0.9363 0.8121 0.9666 0.9967 0.9513 0.9983 0.9865 0.9796 hom 5233.37 173 13 30091714 . G A 5233.37 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;QD=30.25;VQSLOD=9.4968;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5233,409,0 13 30091819 30091819 G C exonic SLC7A1 synonymous SNV SLC7A1:NM_003045:exon10:c.C1401G:p.G467G 0.94 0.89 0.95 0.96 0.99 0.92 0.9677 0.8967 0.9536 0.9467 0.9985 0.9874 0.9703 0.9409 0.96 0.9 0.98 0.96 0.95 rs2482090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9701 0.8943 0.9607 0.9995 0.9503 0.9982 0.9858 0.9741 0.9417 0.9607 0.8980 0.9726 0.9967 0.9512 0.9983 0.9865 0.9827 hom 4287.47 129 13 30091819 . G C 4287.47 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.5985;MQ=59.82;MQ0=0;QD=33.24;VQSLOD=8.5024;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4287,337,0 13 31036681 31036681 A G exonic HMGB1 synonymous SNV HMGB1:NM_001313892:exon4:c.T465C:p.Y155Y,HMGB1:NM_001313893:exon4:c.T465C:p.Y155Y,HMGB1:NM_002128:exon4:c.T465C:p.Y155Y 0.97 0.9 0.99 1. 1. 1. 0.9913 0.9052 0.9950 1 1 0.9999 0.9989 0.9999 0.97 0.91 1. 0.96 1. rs1929606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9930 0.9027 0.9944 1 1 1 0.9998 0.9976 0.9998 0.9729 0.9060 0.9905 1 1 1 0.9996 0.9949 hom 4368.93 146 13 31036681 . A G 4368.93 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.67;MQ0=0;QD=29.92;VQSLOD=8.0318;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4368,352,0 13 31480720 31480720 G A exonic MEDAG nonsynonymous SNV MEDAG:NM_032849:exon1:c.G68A:p.R23H 0.048 0.03 0.066 0.002 0.13 0.027 0.1137 0.0454 0.0573 0.0001 0.2211 0.1606 0.1409 0.0369 0.094 0.035 0.12 . 0.098 rs71436423 COSM432293 1(thyroid);7(large_intestine) . . . . . . . . . . . 0.048 0.400 D 0.999 0.764 D 0.991 0.782 D 0.021 0.268 N 0.100 0.361 P 0.805 0.203 L 0.75 0.502 T -1.85 0.433 N 0.166 0.200 -1.025 0.222 T 0.004 0.012 T . . . 6.150 0.848 28.5 0.999 0.996 0.603 0.309 D c 0.496 0.511 1.000 0.747 0.733 0.969 0 4.9 0.635 3.340 0.516 0.974 0.594 1.000 0.715 1.000 0.888 14.971 0.708 . ENSG00000102802.5|ENSG00000224743.2|ENSG00000102802.5|ENSG00000102802.5|ENSG00000102802.5|ENSG00000102802.5|ENSG00000102802.5 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Thyroid 0.1004 0.0405 0.0606 0.1816 0.0003 0.1888 0.1365 0.1267 0.0347 0.1139 0.0356 0.0659 0.1788 0 0.1873 0.1534 0.1551 het 743.86 47 13 31480720 . G A 743.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.962;DP=47;Dels=0.00;FS=11.792;HRun=0;HaplotypeScore=0.9997;MQ=58.71;MQ0=0;MQRankSum=0.531;QD=15.83;ReadPosRankSum=0.748;VQSLOD=4.0605;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,28:47:99:774,0,495 13 31480827 31480827 A G exonic MEDAG nonsynonymous SNV MEDAG:NM_032849:exon1:c.A175G:p.R59G 0.98 0.91 1. 1. 1. 1. 0.9943 0.9212 0.9967 1 1 0.9998 0.9967 0.9999 0.98 0.94 1. 0.23 . rs9531945 COSM4147683 3(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.008 0.313 N 1 0.090 P -0.695 0.019 N 1.04 0.402 T 3.29 0.001 N 0.125 0.141 -0.944 0.420 T 0.000 0.000 T . . . -0.878 0.037 0.029 0.319 0.018 0.003 0.015 N c -1.416 -1.301 1.000 0.747 0.447 0.083 0 3.15 0.351 1.531 0.354 0.089 0.194 0.075 0.220 0.420 0.257 6.533 0.214 . . . 0.9957 0.9193 0.9961 1 1 1 0.9998 0.9972 0.9998 0.9770 0.9199 0.9940 1 1 1 0.9997 0.9949 hom 422.93 14 13 31480827 . A G 422.93 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=53.24;MQ0=0;QD=30.21;VQSLOD=5.4201;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.11:456,39,0 13 31725260 31725260 A G exonic HSPH1 synonymous SNV HSPH1:NM_001286505:exon5:c.T504C:p.F168F,HSPH1:NM_001286503:exon7:c.T732C:p.F244F,HSPH1:NM_001286504:exon7:c.T738C:p.F246F,HSPH1:NM_001349704:exon7:c.T732C:p.F244F,HSPH1:NM_006644:exon7:c.T732C:p.F244F 0.23 0.25 0.27 0.011 0.46 0.14 0.3529 0.2836 0.2071 0.0109 0.4002 0.4678 0.3595 0.1938 0.41 0.29 0.47 0.24 0.38 rs11556147 COSM3753639;COSM5827366 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3483 0.2754 0.2310 0.3728 0.0103 0.4098 0.4732 0.3675 0.1939 0.3700 0.2717 0.2661 0.3709 0.0130 0.4158 0.4591 0.3937 het 862.51 70 13 31725260 . A G 862.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.639;DP=70;Dels=0.00;FS=1.950;HRun=0;HaplotypeScore=0.9469;MQ=58.46;MQ0=0;MQRankSum=1.439;QD=12.32;ReadPosRankSum=-0.476;VQSLOD=5.9389;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:893,0,910 13 31729729 31729729 A G exonic HSPH1 synonymous SNV HSPH1:NM_001286503:exon3:c.T228C:p.N76N,HSPH1:NM_001286504:exon3:c.T234C:p.N78N,HSPH1:NM_001286505:exon3:c.T234C:p.N78N,HSPH1:NM_001349704:exon3:c.T228C:p.N76N,HSPH1:NM_006644:exon3:c.T228C:p.N76N 0.23 0.25 0.27 0.011 0.46 0.14 0.3527 0.2840 0.2060 0.0109 0.4001 0.4676 0.3598 0.1938 0.41 0.29 0.47 0.24 0.4 rs1047086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3477 0.2745 0.2277 0.3723 0.0103 0.4096 0.4728 0.3666 0.1924 0.3703 0.2721 0.2662 0.3709 0.0130 0.4160 0.4596 0.3939 het 1181.66 140 13 31729729 . A G 1181.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.661;DP=140;Dels=0.00;FS=7.760;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=0.453;QD=8.44;ReadPosRankSum=-0.338;VQSLOD=4.5576;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,56:140:99:1212,0,2141 13 31821992 31821992 T C exonic B3GLCT synonymous SNV B3GLCT:NM_194318:exon6:c.T348C:p.H116H 0.98 0.92 1. 1. 0.99 1. 0.9828 0.9289 0.9909 1 0.9921 0.9836 0.9854 0.9944 0.96 0.93 0.98 0.96 0.62 rs4943266 . . Benign not_specified RCV000082788.5 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9843 0.9273 0.9901 0.9961 1 0.9929 0.9822 0.9858 0.9946 0.9696 0.9272 0.9869 0.9934 1 0.9920 0.9831 0.9878 hom 1496.16 41 13 31821992 . T C 1496.16 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;QD=36.49;VQSLOD=8.7682;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1529,117,0 13 31891746 31891746 G A exonic B3GLCT nonsynonymous SNV B3GLCT:NM_194318:exon13:c.G1108A:p.E370K 0.67 0.39 0.76 0.78 0.76 0.77 0.7425 0.4076 0.7987 0.7885 0.7064 0.7786 0.7335 0.7587 0.66 0.42 0.78 0.54 0.75 rs1041073 . . Benign not_specified RCV000082784.5 MedGen CN169374 . . . . . . 0.126 0.272 T 0.964 0.539 D 0.472 0.450 P 0.000 0.537 N 0.001 0.466 P 1.885 0.502 L -1.92 0.848 D -1.77 0.418 N 0.098 0.211 -0.913 0.465 T 0.000 0.000 T . . . 3.052 0.427 22.4 0.999 0.959 0.958 0.659 D c -0.035 -0.080 0.013 0.125 0.706 0.609 0 3.21 0.358 6.168 0.716 1.048 0.713 1.000 0.715 0.057 0.169 7.087 0.243 Nucleotide-diphospho-sugar transferases ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7|ENSG00000187676.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.7495 0.4035 0.7907 0.8377 0.7854 0.7140 0.7746 0.7641 0.7601 0.6659 0.4191 0.8014 0.85 0.7880 0.7130 0.7689 0.7393 hom 6207.91 199 13 31891746 . G A 6207.91 Mask AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2145;MQ=59.62;MQ0=0;QD=31.20;VQSLOD=8.7444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,198:199:99:6207,484,0 13 32676114 32676114 A G exonic FRY synonymous SNV FRY:NM_023037:exon3:c.A285G:p.T95T 0.58 0.61 0.54 0.42 0.66 0.67 0.6047 0.5901 0.5088 0.3820 0.6871 0.6313 0.6481 0.6533 0.62 0.59 0.64 0.53 0.66 rs364995 COSM3753642;COSM3753641 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6037 0.5847 0.5140 0.6416 0.3852 0.6797 0.6341 0.6173 0.6538 0.6131 0.5786 0.5394 0.5927 0.3839 0.6638 0.6488 0.6395 het 1547.89 147 13 32676114 . A G 1547.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.460;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.58;MQ0=0;MQRankSum=-2.092;QD=10.53;ReadPosRankSum=-0.413;VQSLOD=5.2438;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,70:147:99:1578,0,1985 13 32776603 32776603 T C exonic FRY synonymous SNV FRY:NM_023037:exon31:c.T3957C:p.L1319L 0.35 0.42 0.44 0.17 0.44 0.27 0.3848 0.4216 0.4598 0.1631 0.4949 0.4110 0.3844 0.2762 0.41 0.41 0.41 0.4 0.45 rs2428249 COSM3765691 1(liver);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3895 0.4279 0.4533 0.3474 0.1686 0.4992 0.4128 0.3836 0.2751 0.4209 0.4208 0.4366 0.3245 0.1768 0.4751 0.4341 0.4477 het 1686.87 139 13 32776603 . T C 1686.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.213;DP=139;Dels=0.00;FS=2.150;HRun=0;HaplotypeScore=0.8667;MQ=59.57;MQ0=0;MQRankSum=2.277;QD=12.14;ReadPosRankSum=-0.423;VQSLOD=6.0277;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,69:139:99:1717,0,1898 13 32785086 32785086 G A exonic FRY synonymous SNV FRY:NM_023037:exon34:c.G4506A:p.E1502E 0.35 0.42 0.44 0.17 0.44 0.27 0.3848 0.4215 0.4604 0.1633 0.4952 0.4108 0.3844 0.2762 0.41 0.41 0.41 0.39 0.46 rs798981 COSM4415587 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3894 0.4278 0.4536 0.3475 0.1686 0.4992 0.4126 0.3835 0.2751 0.4212 0.4208 0.4388 0.3245 0.1774 0.4756 0.4345 0.4450 het 1641.74 114 13 32785086 . G A 1641.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.122;DP=114;Dels=0.00;FS=0.719;HRun=1;HaplotypeScore=8.6536;MQ=58.43;MQ0=0;MQRankSum=-1.238;QD=14.40;ReadPosRankSum=1.284;VQSLOD=3.7859;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,67:114:99:1672,0,1179 13 32811607 32811607 G A exonic FRY nonsynonymous SNV FRY:NM_023037:exon44:c.G5902A:p.G1968S 0.22 0.35 0.24 0.004 0.31 0.14 0.2811 0.3297 0.2705 0.0013 0.4153 0.3271 0.2779 0.1664 0.32 0.32 0.31 0.23 0.28 rs2806639 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B 0.001 0.404 N 0.108 0.360 P 0.695 0.181 N . . . . . . 0.093 0.184 -0.917 0.460 T 0.000 0.000 T . . . 1.811 0.279 15.05 0.347 0.021 0.916 0.535 D c -0.180 -0.006 1.000 0.747 0.707 0.730 0 6.17 0.997 2.251 0.426 1.045 0.669 0.995 0.385 0.490 0.269 15.946 0.795 . . . 0.2821 0.3335 0.2706 0.2967 0.0012 0.4099 0.3255 0.2851 0.1713 0.3323 0.3491 0.2811 0.3212 0.0031 0.4200 0.3406 0.3354 het 1894.79 144 13 32811607 . G A 1894.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.322;DP=144;Dels=0.00;FS=3.065;HRun=0;HaplotypeScore=2.9423;MQ=58.61;MQ0=0;MQRankSum=-0.172;QD=13.16;ReadPosRankSum=0.539;VQSLOD=5.9105;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,70:144:99:1925,0,1845 13 32906729 32906729 A C exonic BRCA2 nonsynonymous SNV BRCA2:NM_000059:exon10:c.A1114C:p.N372H 0.25 0.084 0.3 0.28 0.3 0.35 0.2779 0.1249 0.3049 0.2728 0.2331 0.2818 0.2677 0.3558 0.23 0.13 0.29 0.24 0.2 rs144848 COSM147663;COSM3753646 1(stomach);1(haematopoietic_and_lymphoid_tissue);16(soft_tissue);1(prostate);1(thyroid);4(large_intestine) not provided\x2cBenign|Benign|Benign|Benign|Uncertain significance|Benign|Benign|Benign Breast-ovarian_cancer\x2c_familial_2\x2cBreast-ovarian_cancer\x2c_familial_2|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Ductal_breast_carcinoma|Fanconi_anemia|Hereditary_breast_and_ovarian_cancer_syndrome|Familial_cancer_of_breast RCV000112880.1\x2cRCV000009916.7|RCV000034427.1|RCV000120303.6|RCV000130720.3|RCV000207052.1|RCV000260146.1|RCV000320173.2|RCV000468776.1 MedGen:OMIM\x2cMedGen:OMIM|MedGen|MedGen|MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT C2675520:612555\x2cC2675520:612555|CN221809|CN169374|C0027672:699346009|C1527349|C0015625:ORPHA84:30575002|C0677776:ORPHA145|C0346153:114480:ORPHA227535:254843006 . . . . . . 0.139 0.257 T . . . . . . 0.539 0.053 N 1 0.090 P . . . 5.79 0.007 T -0.6 0.178 N 0.13 0.236 -0.951 0.409 T 0.000 0.000 T . . . -1.126 0.027 0.009 0.932 0.223 0.087 0.144 N c -0.648 -0.769 0.987 0.312 0.651 0.465 0 0.396 0.155 0.320 0.191 -0.189 0.103 0.000 0.063 0.202 0.218 5.256 0.148 . . . 0.2795 0.1247 0.3038 0.3571 0.2683 0.2298 0.2784 0.2810 0.3513 0.2218 0.1201 0.2637 0.3510 0.2679 0.2272 0.2670 0.2668 het 4021.11 250 13 32906729 . A C 4021.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.758;DP=250;DS;Dels=0.00;FS=0.463;HRun=0;HaplotypeScore=6.3352;MQ=58.57;MQ0=0;MQRankSum=0.917;QD=16.08;ReadPosRankSum=0.082;VQSLOD=4.7842;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3403,0,3297 13 32911888 32911888 A G exonic BRCA2 synonymous SNV BRCA2:NM_000059:exon11:c.A3396G:p.K1132K 0.27 0.21 0.24 0.37 0.28 0.25 0.2945 0.2292 0.2087 0.3848 0.3090 0.3064 0.3149 0.2924 0.28 0.23 0.31 0.25 0.31 rs1801406 COSM4415775;COSM4415776 1(bone);1(haematopoietic_and_lymphoid_tissue) Benign\x2cBenign|Benign|Benign|Benign|Benign|Benign Breast-ovarian_cancer\x2c_familial_2\x2cBreast-ovarian_cancer\x2c_familial_2|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified|Fanconi_anemia|Hereditary_breast_and_ovarian_cancer_syndrome RCV000113169.1\x2cRCV000113170.4|RCV000114982.3|RCV000130987.2|RCV000152873.5|RCV000337515.1|RCV000375777.2 MedGen:OMIM\x2cMedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:Orphanet C2675520:612555\x2cC2675520:612555|C0346153:114480:ORPHA227535:254843006|C0027672:699346009|CN169374|C0015625:ORPHA84:30575002|C0677776:ORPHA145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2947 0.2277 0.2127 0.2996 0.3820 0.3175 0.3087 0.2976 0.2994 0.2984 0.2348 0.2100 0.3212 0.3863 0.3113 0.3267 0.3108 het 927.39 73 13 32911888 . A G 927.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.927;DP=73;Dels=0.00;FS=5.006;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;MQRankSum=-1.037;QD=12.70;ReadPosRankSum=-0.470;VQSLOD=5.8649;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,33:73:99:957,0,1023 13 32913055 32913055 A G exonic BRCA2 synonymous SNV BRCA2:NM_000059:exon11:c.A4563G:p.L1521L 0.97 0.9 1. 1. 1. 1. 0.9931 0.9264 0.9967 0.9999 1 0.9995 0.9989 0.9999 0.98 0.93 1. 0.97 0.97 rs206075 . . Benign\x2cBenign|Likely benign|Likely benign|Likely benign\x2cBenign|Benign|Benign|Benign|Benign|Benign Breast-ovarian_cancer\x2c_familial_2\x2cnot_specified|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer\x2c_familial_2\x2cBreast-ovarian_cancer\x2c_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia|Familial_cancer_of_breast RCV000113321.1\x2cRCV000160224.1|RCV000164515.2|RCV000198429.2|RCV000412372.1\x2cRCV000119245.2|RCV000132170.2|RCV000152875.8|RCV000257902.3|RCV000340564.1|RCV000461053.1 MedGen:OMIM\x2cMedGen|MedGen:SNOMED_CT|MedGen:Orphanet|MedGen:OMIM\x2cMedGen:OMIM|MedGen:SNOMED_CT|MedGen|MedGen:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT C2675520:612555\x2cCN169374|C0027672:699346009|C0677776:ORPHA145|C2675520:612555\x2cC2675520:612555|C0027672:699346009|CN169374|C0677776:ORPHA145|C0015625:ORPHA84:30575002|C0346153:114480:ORPHA227535:254843006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9945 0.9252 0.9956 1 0.9999 1 0.9996 0.9965 0.9999 0.9799 0.9301 0.9976 1 0.9994 1 0.9997 0.9959 hom 2631.79 79 13 32913055 . A G 2631.79 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=33.31;VQSLOD=9.7106;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2665,208,0 13 32915005 32915005 G C exonic BRCA2 synonymous SNV BRCA2:NM_000059:exon11:c.G6513C:p.V2171V 0.97 0.9 1. 1. 1. 1. 0.9930 0.9253 0.9967 0.9999 1 0.9995 0.9989 0.9998 0.98 0.93 1. 0.97 0.92 rs206076 COSM4147690;COSM4147689 1(thyroid) not provided\x2cBenign|Benign|Benign|Benign|Benign|Benign\x2cLikely benign|other|other Breast-ovarian_cancer\x2c_familial_2\x2cBreast-ovarian_cancer\x2c_familial_2|not_specified|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia|Familial_cancer_of_breast\x2cHereditary_cancer-predisposing_syndrome|not_specified|Hereditary_breast_and_ovarian_cancer_syndrome RCV000113602.1\x2cRCV000119246.2|RCV000152878.8|RCV000162377.1|RCV000257903.3|RCV000261979.1|RCV000464673.1\x2cRCV000163332.1|RCV000168590.4|RCV000195987.3 MedGen:OMIM\x2cMedGen:OMIM|MedGen|MedGen:SNOMED_CT|MedGen:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen:SNOMED_CT|MedGen|MedGen:Orphanet C2675520:612555\x2cC2675520:612555|CN169374|C0027672:699346009|C0677776:ORPHA145|C0015625:ORPHA84:30575002|C0346153:114480:ORPHA227535:254843006\x2cC0027672:699346009|CN169374|C0677776:ORPHA145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9943 0.9251 0.9955 1 0.9999 1 0.9995 0.9963 0.9999 0.9798 0.9299 0.9976 1 0.9994 1 0.9997 0.9959 hom 1608.96 52 13 32915005 . G C 1608.96 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;QD=30.94;VQSLOD=8.4288;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1642,126,0 13 32929232 32929232 A G exonic BRCA2 synonymous SNV BRCA2:NM_000059:exon14:c.A7242G:p.S2414S 0.23 0.21 0.2 0.37 0.21 0.17 0.2244 0.2116 0.1796 0.3847 0.2362 0.2143 0.2280 0.2161 0.21 0.21 0.21 0.21 0.27 rs1799955 COSM4415348;COSM4415347 1(haematopoietic_and_lymphoid_tissue);11(soft_tissue) Benign|Benign|Benign|Benign|Benign|Benign Breast-ovarian_cancer\x2c_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia|Familial_cancer_of_breast RCV000113739.4|RCV000130994.2|RCV000152882.5|RCV000336026.2|RCV000394273.1|RCV000474663.1 MedGen:OMIM|MedGen:SNOMED_CT|MedGen|MedGen:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT C2675520:612555|C0027672:699346009|CN169374|C0677776:ORPHA145|C0015625:ORPHA84:30575002|C0346153:114480:ORPHA227535:254843006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2250 0.2156 0.1799 0.2056 0.3818 0.2375 0.2163 0.2232 0.2202 0.2299 0.2206 0.1627 0.2219 0.3837 0.2261 0.2239 0.2255 het 531.50 55 13 32929232 . A G 531.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DP=55;Dels=0.00;FS=3.949;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;MQRankSum=-0.507;QD=9.66;ReadPosRankSum=0.369;VQSLOD=5.8590;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,22:55:99:561,0,897 13 32929387 32929387 T C exonic BRCA2 nonsynonymous SNV BRCA2:NM_000059:exon14:c.T7397C:p.V2466A 0.98 0.91 1. 1. 1. 1. 0.9937 0.9330 0.9970 0.9999 1 0.9996 0.9989 0.9998 0.98 0.94 1. 0.95 0.95 rs169547 . . Benign|Benign|Benign|Benign\x2cBenign|Uncertain significance Breast-ovarian_cancer\x2c_familial_2|not_specified|Hereditary_breast_and_ovarian_cancer_syndrome|Familial_cancer_of_breast\x2cnot_specified|Ductal_breast_carcinoma RCV000113751.2|RCV000168597.1|RCV000203672.2|RCV000476057.1\x2cRCV000120357.6|RCV000207137.1 MedGen:OMIM|MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen|MedGen C2675520:612555|CN169374|C0677776:ORPHA145|C0346153:114480:ORPHA227535:254843006\x2cCN169374|C1527349 . . . . . . 1.0 0.010 T . . . . . . 0.194 0.168 N 1 0.090 P . . . 5.95 0.007 T 0.62 0.024 N 0.128 0.146 -0.930 0.442 T 0.000 0.000 T . . . -0.407 0.061 0.372 0.169 0.005 0.000 0.004 N c -0.614 -0.667 1.000 0.436 0.651 0.465 0 5.07 0.680 2.491 0.447 -0.023 0.128 0.028 0.201 0.005 0.090 12.092 0.528 . . . 0.9950 0.9322 0.9958 1 0.9999 1 0.9997 0.9974 0.9999 0.9819 0.9369 0.9976 1 0.9994 1 0.9997 0.9980 hom 1951.14 65 13 32929387 . T C 1951.14 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=30.02;VQSLOD=9.0924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1984,150,0 13 33232435 33232435 A G exonic PDS5B synonymous SNV PDS5B:NM_015032:exon4:c.A372G:p.Q124Q 0.27 0.23 0.36 0.14 0.47 0.19 0.3724 0.2843 0.3478 0.1535 0.4524 0.4425 0.4201 0.2378 0.38 0.27 0.43 0.3 0.37 rs2301393 COSM3753650 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3658 0.2754 0.3398 0.4011 0.1535 0.4505 0.4349 0.3773 0.2281 0.3782 0.2715 0.3789 0.37 0.1648 0.4355 0.4491 0.3961 het 586.44 53 13 33232435 . A G 586.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.509;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.94;MQ0=0;MQRankSum=1.538;QD=11.06;ReadPosRankSum=-0.018;VQSLOD=6.6919;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,25:53:99:616,0,657 13 33590851 33590851 T C exonic KL synonymous SNV KL:NM_004795:exon1:c.T273C:p.D91D 0.94 0.8 0.98 1. 1. 1. 0.9865 0.8258 0.9904 1 1 0.9997 0.9925 0.9994 0.95 0.84 1. 0.43 0.8 rs2772364 COSM3753651 2(thyroid);1(large_intestine) Benign Tumoral_calcinosis\x2c_familial\x2c_hyperphosphatemic RCV000391867.1 MedGen:OMIM:OMIM:Orphanet C1876187:211900:610233:ORPHA306661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9881 0.8240 0.9905 0.9989 1 1 0.9995 0.9939 0.9995 0.9500 0.8254 0.9892 1 1 1 0.9993 0.9927 hom 1137.76 38 13 33590851 . T C 1137.76 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.94;VQSLOD=13.0747;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:93.28:1171,93,0 13 33634983 33634983 C T exonic KL synonymous SNV KL:NM_004795:exon4:c.C1767T:p.H589H 0.25 0.04 0.51 0.16 0.36 0.32 0.3623 0.0826 0.5387 0.1601 0.3902 0.4043 0.3789 0.3388 0.3 0.099 0.41 0.26 0.43 rs564481 . . Benign Tumoral_calcinosis\x2c_familial\x2c_hyperphosphatemic RCV000295187.1 MedGen:OMIM:OMIM:Orphanet C1876187:211900:610233:ORPHA306661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3768 0.0796 0.5420 0.4302 0.1556 0.3789 0.4048 0.4039 0.3433 0.2960 0.0839 0.5024 0.3709 0.1636 0.3746 0.3980 0.3694 het 2614.36 198 13 33634983 . C T 2614.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.370;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4847;MQ=58.63;MQ0=0;MQRankSum=0.018;QD=13.20;ReadPosRankSum=0.111;VQSLOD=4.6359;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,97:198:99:2644,0,2485 13 33635463 33635463 T C exonic KL synonymous SNV KL:NM_004795:exon4:c.T2247C:p.A749A 0.71 0.54 0.83 0.61 0.88 0.79 0.8036 0.5722 0.7757 0.5998 0.8845 0.8599 0.8117 0.8140 0.77 0.58 0.87 0.65 0.74 rs648202 . . Benign Tumoral_calcinosis\x2c_familial\x2c_hyperphosphatemic RCV000294071.1 MedGen:OMIM:OMIM:Orphanet C1876187:211900:610233:ORPHA306661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8101 0.5729 0.7896 0.9065 0.6024 0.8780 0.8568 0.8321 0.8132 0.7635 0.5728 0.7955 0.9205 0.6103 0.8794 0.8528 0.8514 het 1284.16 107 13 33635463 . T C 1284.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.131;DP=107;Dels=0.00;FS=0.733;HRun=1;HaplotypeScore=0.6651;MQ=59.24;MQ0=0;MQRankSum=0.458;QD=12.00;ReadPosRankSum=0.092;VQSLOD=6.8309;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1314,0,1427 13 33635835 33635835 T C exonic KL synonymous SNV KL:NM_004795:exon4:c.T2619C:p.N873N 0.98 0.91 0.99 1. 1. 1. 0.9919 0.9115 0.9964 0.9998 1 0.9998 0.9934 0.9998 0.97 0.91 1. 0.96 1. rs649964 . . Benign Tumoral_calcinosis\x2c_familial\x2c_hyperphosphatemic RCV000341459.1 MedGen:OMIM:OMIM:Orphanet C1876187:211900:610233:ORPHA306661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9939 0.9149 0.9957 1 0.9999 1 0.9997 0.9973 0.9998 0.9760 0.9164 0.9893 1 0.9994 1 0.9997 1 hom 6915.60 229 13 33635835 . T C 6915.60 Mask AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4916;MQ=59.29;MQ0=0;QD=30.20;VQSLOD=8.7161;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:6914,575,0 13 33703656 33703656 T C exonic STARD13 synonymous SNV STARD13:NM_001243466:exon5:c.A1134G:p.E378E,STARD13:NM_001243474:exon5:c.A804G:p.E268E,STARD13:NM_052851:exon5:c.A804G:p.E268E,STARD13:NM_178006:exon5:c.A1158G:p.E386E,STARD13:NM_178007:exon5:c.A1134G:p.E378E,STARD13:NM_001243476:exon9:c.A1053G:p.E351E 0.52 0.33 0.62 0.54 0.61 0.57 0.5858 0.3775 0.5827 0.5623 0.6208 0.6251 0.5881 0.5583 0.54 0.38 0.63 0.52 0.75 rs495680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5904 0.3763 0.5862 0.5741 0.5574 0.6189 0.6291 0.6108 0.5609 0.5425 0.3748 0.5847 0.5331 0.5582 0.6140 0.6165 0.5876 hom 4626.71 140 13 33703656 . T C 4626.71 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4194;MQ=58.97;MQ0=0;QD=33.05;VQSLOD=8.4060;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4626,367,0 13 36202269 36202269 A G exonic NBEA nonsynonymous SNV NBEA:NM_001204197:exon9:c.A880G:p.I294V,NBEA:NM_015678:exon49:c.A7501G:p.I2501V 0.03 0.0038 0.03 0.001 0.11 0.015 0.0748 0.0192 0.0299 0 0.1332 0.1083 0.0863 0.0171 0.077 0.019 0.1 0.033 . rs11538677 COSM5654268;COSM5654267;COSM5654266 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.039 0.486 D 0.181 0.481 B 0.525 0.534 P 0.000 0.843 N 1 0.810 D 1.915 0.514 L -1.44 0.808 T -0.82 0.247 N 0.133 0.231 -0.966 0.380 T 0.020 0.083 T . . . 5.326 0.721 25.8 0.999 0.956 0.959 0.663 D c 0.191 0.215 0.944 0.275 0.706 0.609 0 3.18 0.355 6.200 0.719 1.199 0.960 1.000 0.715 1.000 0.888 9.882 0.402 BEACH domain . . 0.0697 0.0191 0.0298 0.0387 0 0.1259 0.1055 0.0773 0.0152 0.0745 0.0210 0.0418 0.03 0 0.1246 0.1039 0.0878 het 608.45 52 13 36202269 . A G 608.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.782;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.743;QD=11.70;ReadPosRankSum=-2.395;VQSLOD=5.2122;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,24:52:99:638,0,704 13 36229873 36229873 C T exonic NBEA synonymous SNV NBEA:NM_001204197:exon14:c.C1665T:p.D555D,NBEA:NM_015678:exon54:c.C8286T:p.D2762D 0.12 0.049 0.062 0.12 0.13 0.23 0.1304 0.0670 0.0471 0.1227 0.1495 0.1410 0.1295 0.1794 0.11 0.059 0.14 0.087 . rs2274550 COSM147664;COSM3999072;COSM3999073 1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1274 0.0669 0.0512 0.1335 0.1228 0.1494 0.1396 0.1272 0.1807 0.1160 0.0684 0.0659 0.1159 0.1162 0.1466 0.1377 0.1391 het 1354.49 71 13 36229873 . C T 1354.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.292;DP=71;Dels=0.00;FS=4.586;HRun=0;HaplotypeScore=0.6651;MQ=59.68;MQ0=0;MQRankSum=1.583;QD=19.08;ReadPosRankSum=-0.668;VQSLOD=5.1277;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,46:71:99:1384,0,684 13 37580139 37580139 G A exonic EXOSC8 synonymous SNV EXOSC8:NM_181503:exon6:c.G321A:p.Q107Q 0.41 0.082 0.42 0.72 0.38 0.57 0.4134 0.1287 0.3973 0.7112 0.4067 0.3880 0.3943 0.5542 0.31 0.14 0.4 0.33 0.42 rs1127446 COSM4147701 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4182 0.1246 0.4008 0.3888 0.7052 0.4075 0.3883 0.4086 0.5505 0.3367 0.1280 0.3546 0.4073 0.6852 0.4093 0.3975 0.3921 het 659.06 63 13 37580139 . G A 659.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.021;DP=63;Dels=0.00;FS=1.095;HRun=1;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;MQRankSum=1.340;QD=10.46;ReadPosRankSum=-1.243;VQSLOD=4.5971;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,27:63:99:689,0,1012 13 37583831 37583831 G A exonic SUPT20H nonsynonymous SNV SUPT20H:NM_001014286:exon26:c.C2318T:p.T773M 0.41 0.081 0.42 0.72 0.38 0.57 0.4128 0.1277 0.3931 0.7116 0.4070 0.3880 0.3932 0.5536 0.31 0.14 0.4 0.33 0.41 rs9469 COSM3753673 1(large_intestine) . . . . . . . . . . . 0.076 0.342 T 0.006 0.126 B 0.004 0.093 B 0.001 0.399 N 0.974 0.588 P 0.74 0.190 N 1.4 0.336 T -0.97 0.258 N 0.057 0.236 -1.003 0.290 T 0.000 0.000 T . . . 1.518 0.245 13.41 0.925 0.213 0.928 0.563 D c -0.450 -0.258 1.000 0.747 0.672 0.522 0 4.18 0.483 2.402 0.439 -0.248 0.090 0.995 0.385 0.982 0.498 10.349 0.429 . ENSG00000120697.4|ENSG00000180138.6 Cells_Transformed_fibroblasts|Testis 0.4178 0.1236 0.3981 0.3888 0.7047 0.4077 0.3884 0.4088 0.5499 0.3364 0.1277 0.3450 0.4073 0.6855 0.4095 0.3978 0.3906 het 2126.54 172 13 37583831 . G A 2126.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.000;DP=172;Dels=0.00;FS=1.217;HRun=0;HaplotypeScore=4.9195;MQ=58.79;MQ0=0;MQRankSum=3.510;QD=12.36;ReadPosRankSum=-0.707;VQSLOD=3.8157;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,85:172:99:2157,0,2058 13 38924263 38924263 T C exonic UFM1 synonymous SNV UFM1:NM_001286704:exon2:c.T12C:p.A4A 0.86 0.56 0.96 0.99 0.98 0.96 0.9408 0.6037 0.9678 0.9884 0.9846 0.9714 0.9514 0.9615 0.86 0.61 0.97 0.86 . rs2231332 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9471 0.6000 0.9668 0.9342 0.9872 0.9837 0.9725 0.9519 0.9600 0.8706 0.6064 0.9545 0.9503 0.9889 0.9843 0.9727 0.9582 hom 2038.73 59 13 38924263 . T C 2038.73 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=34.55;VQSLOD=9.1878;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:2072,165,0 13 39262057 39262057 G A exonic FREM2 synonymous SNV FREM2:NM_207361:exon1:c.G576A:p.E192E 1. 1. 1. 1. 1. 1. 1.0000 0.9996 1 1 1 1 1 1 1. 1. 1. 0.96 0.67 rs1868464 COSM4147704 1(thyroid) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000250281.1|RCV000347448.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9996 1.0000 1 1 1 1 1 1 0.9999 0.9997 1 1 1 1 1 1 hom 849.06 27 13 39262057 . G A 849.06 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=57.90;MQ0=0;QD=31.45;VQSLOD=7.8206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:882,69,0 13 39263023 39263023 C T exonic FREM2 synonymous SNV FREM2:NM_207361:exon1:c.C1542T:p.A514A 0.084 0.0061 0.12 0.004 0.26 0.06 0.1903 0.0411 0.0916 0.0012 0.2817 0.2704 0.1863 0.0940 0.19 0.043 0.26 0.076 0.12 rs12874397 COSM3753676 1(liver);1(large_intestine) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000173609.1|RCV000388006.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1875 0.0399 0.1033 0.1801 0.0017 0.2771 0.2704 0.1981 0.0961 0.1862 0.0407 0.1074 0.1623 0.0012 0.2806 0.2706 0.2377 het 498.83 49 13 39263023 . C T 498.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.461;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8302;MQ=59.24;MQ0=0;MQRankSum=1.800;QD=10.18;ReadPosRankSum=0.394;VQSLOD=5.5898;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,18:49:99:529,0,854 13 39263714 39263714 T C exonic FREM2 nonsynonymous SNV FREM2:NM_207361:exon1:c.T2233C:p.S745P 1. 1. 1. 1. 1. 1. 1.0000 0.9997 1 1 1 1 1 0.9999 1. 1. 1. 1. 0.98 rs2496423 . . Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000173610.2|RCV000357309.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9997 1.0000 1 1 1 1.0000 1 1.0000 0.9999 0.9997 1 1 1 1 1 1 hom 3989.57 130 13 39263714 . T C 3989.57 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=3.8709;MQ=59.14;MQ0=0;QD=30.69;VQSLOD=8.5674;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3989,316,0 13 39264690 39264690 T C exonic FREM2 nonsynonymous SNV FREM2:NM_207361:exon1:c.T3209C:p.F1070S 0.48 0.84 0.45 0.42 0.26 0.31 0.3473 0.7606 0.4399 0.4028 0.3162 0.2748 0.3117 0.3002 0.44 0.75 0.27 0.55 0.29 rs2496425 COSM1366801 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000173599.1|RCV000380412.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . 0.671 0.045 T 0.0 0.026 B 0.0 0.013 B 0.001 0.408 N 1 0.090 P -1.2 0.008 N 1.09 0.392 T 0.6 0.025 N 0.036 0.016 -1.006 0.281 T 0.000 0.000 T . . . 0.385 0.131 6.483 0.579 0.057 0.037 0.089 N c -0.665 -0.488 1.000 0.458 0.651 0.465 0 6.07 0.987 0.679 0.248 0.066 0.173 0.005 0.169 0.555 0.280 10.140 0.417 . . . 0.3406 0.7660 0.4343 0.3145 0.3961 0.3157 0.2671 0.3253 0.2918 0.4251 0.7540 0.4045 0.3179 0.4323 0.3177 0.2677 0.3330 het 2598.44 194 13 39264690 . T C 2598.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.035;DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3579;MQ=59.64;MQ0=0;MQRankSum=-0.719;QD=13.39;ReadPosRankSum=1.383;VQSLOD=3.9489;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,90:194:99:2628,0,2758 13 39430314 39430314 C T exonic FREM2 nonsynonymous SNV FREM2:NM_207361:exon12:c.C6977T:p.T2326I 0.77 0.73 0.79 0.97 0.69 0.7 0.7398 0.7502 0.8476 0.9726 0.7409 0.6953 0.7494 0.7147 0.72 0.76 0.7 0.7 0.7 rs9548509 . . Benign|Benign not_specified|Cryptophthalmos_syndrome RCV000241670.1|RCV000369162.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265233:219000:204102004 . . . . . . 0.255 0.168 T 0.0 0.026 B 0.0 0.013 B 0.001 0.408 N 1 0.090 P -1.18 0.009 N 1.78 0.257 T 2.32 0.003 N 0.044 0.024 -0.965 0.383 T 0.000 0.000 T . . . 1.722 0.268 14.53 0.965 0.294 0.017 0.053 N c -0.841 -0.636 1.000 0.454 0.706 0.609 0 5.66 0.872 6.117 0.711 0.090 0.195 0.967 0.338 0.183 0.213 11.738 0.509 Na-Ca exchanger/integrin-beta4 . . 0.7477 0.7497 0.8356 0.7274 0.9712 0.7459 0.6971 0.7391 0.7181 0.7432 0.7513 0.8173 0.74 0.9691 0.7422 0.7096 0.7526 het 1671.86 107 13 39430314 . C T 1671.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.837;DP=107;Dels=0.00;FS=2.675;HRun=0;HaplotypeScore=1.8273;MQ=58.68;MQ0=0;MQRankSum=0.355;QD=15.62;ReadPosRankSum=-0.968;VQSLOD=5.9289;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,66:107:99:1702,0,963 13 39454771 39454771 G C exonic FREM2 synonymous SNV FREM2:NM_207361:exon24:c.G9357C:p.T3119T 0.018 0.0015 0.017 . 0.059 0.016 0.0438 0.0113 0.0135 0 0.0432 0.0668 0.0397 0.0160 0.05 0.011 0.069 0.033 0.11 rs41306664 . . Likely benign Cryptophthalmos_syndrome RCV000401544.1 MedGen:OMIM:SNOMED_CT C0265233:219000:204102004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0435 0.0115 0.0176 0.0423 0.0001 0.0465 0.0692 0.0434 0.0174 0.0491 0.0123 0.0168 0.0298 0 0.0538 0.0774 0.0418 het 1172.81 80 13 39454771 . G C 1172.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.757;DP=80;Dels=0.00;FS=1.896;HRun=1;HaplotypeScore=1.7876;MQ=59.53;MQ0=0;MQRankSum=1.523;QD=14.66;ReadPosRankSum=-0.394;VQSLOD=6.1537;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,46:80:99:1203,0,839 13 39586343 39586343 G C exonic PROSER1 synonymous SNV PROSER1:NM_025138:exon12:c.C2589G:p.G863G 0.22 0.25 0.16 0.22 0.16 0.3 0.1761 0.2522 0.1352 0.2303 0.1503 0.1476 0.1847 0.2538 0.18 0.25 0.14 0.22 0.2 rs9576697 COSM3753682 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1695 0.2470 0.1289 0.1333 0.2263 0.1519 0.1454 0.1643 0.2563 0.1804 0.2494 0.1232 0.1556 0.2398 0.1579 0.1435 0.1701 het 2467.32 204 13 39586343 . G C 2467.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.458;DP=204;DS;Dels=0.00;FS=1.138;HRun=2;HaplotypeScore=4.4665;MQ=58.87;MQ0=0;MQRankSum=0.343;QD=12.09;ReadPosRankSum=0.759;VQSLOD=5.2000;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,101:204:99:2497,0,2725 13 39587166 39587166 A G exonic PROSER1 synonymous SNV PROSER1:NM_025138:exon11:c.T2223C:p.P741P 0.25 0.33 0.16 0.22 0.16 0.3 0.1845 0.3437 0.1395 0.2305 0.1503 0.1476 0.1861 0.2540 0.21 0.33 0.14 0.23 0.21 rs11147745 COSM3753683 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1761 0.3412 0.1326 0.1335 0.2263 0.1520 0.1457 0.1678 0.2564 0.2046 0.3348 0.1301 0.1556 0.2395 0.1580 0.1436 0.1694 het 2709.68 213 13 39587166 . A G 2709.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.056;DP=213;Dels=0.00;FS=1.073;HRun=2;HaplotypeScore=11.3590;MQ=58.85;MQ0=0;MQRankSum=-0.222;QD=12.72;ReadPosRankSum=0.741;VQSLOD=3.8932;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,100:213:99:2740,0,3026 13 39587677 39587677 A G exonic PROSER1 nonsynonymous SNV PROSER1:NM_025138:exon11:c.T1712C:p.V571A 0.28 0.45 0.18 0.22 0.17 0.31 0.2002 0.4435 0.1469 0.2306 0.1552 0.1572 0.2119 0.2596 0.24 0.43 0.15 0.3 0.19 rs3751379 COSM3753684 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.327 0.132 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0.49 0.133 N 1.45 0.325 T 0.05 0.064 N 0.053 0.035 -0.897 0.483 T 0.000 0.000 T . . . -1.705 0.013 0.002 0.393 0.027 0.145 0.182 N c -1.470 -1.480 0.799 0.241 0.707 0.730 0 -1.6 0.079 0.084 0.146 -0.214 0.099 0.000 0.063 0.433 0.260 6.674 0.221 . . . 0.1895 0.4379 0.1411 0.1669 0.2264 0.1558 0.1534 0.1825 0.2618 0.2389 0.4353 0.1420 0.1954 0.2379 0.1607 0.1531 0.1843 het 2630.02 212 13 39587677 . A G 2630.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.153;DP=212;Dels=0.00;FS=3.271;HRun=0;HaplotypeScore=5.4777;MQ=59.67;MQ0=0;MQRankSum=1.028;QD=12.41;ReadPosRankSum=0.451;VQSLOD=5.0126;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,105:212:99:2660,0,2833 13 39587865 39587865 A C exonic PROSER1 synonymous SNV PROSER1:NM_025138:exon11:c.T1524G:p.S508S 0.22 0.25 0.16 0.22 0.16 0.3 0.1757 0.2470 0.1355 0.2312 0.1503 0.1475 0.1828 0.2539 0.18 0.24 0.14 0.2 0.2 rs3751378 COSM4419120 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1692 0.2419 0.1291 0.1337 0.2264 0.1519 0.1453 0.1639 0.2563 0.1780 0.2425 0.1229 0.1556 0.2392 0.1576 0.1429 0.1694 het 1439.26 136 13 39587865 . A C 1439.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.146;DP=136;Dels=0.00;FS=4.255;HRun=1;HaplotypeScore=1.3670;MQ=58.96;MQ0=0;MQRankSum=-1.727;QD=10.58;ReadPosRankSum=0.290;VQSLOD=5.1297;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,56:136:99:1469,0,2235 13 39587889 39587889 T C exonic PROSER1 synonymous SNV PROSER1:NM_025138:exon11:c.A1500G:p.L500L 0.22 0.25 0.16 0.22 0.16 0.3 0.1756 0.2473 0.1355 0.2310 0.1503 0.1473 0.1828 0.2539 0.18 0.24 0.14 0.21 0.2 rs3751377 COSM3753685 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1691 0.2423 0.1291 0.1334 0.2265 0.1518 0.1451 0.1637 0.2563 0.1778 0.2421 0.1229 0.1556 0.2385 0.1577 0.1429 0.1691 het 1854.65 153 13 39587889 . T C 1854.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.548;DP=153;Dels=0.00;FS=7.283;HRun=0;HaplotypeScore=2.9359;MQ=58.96;MQ0=0;MQRankSum=1.764;QD=12.12;ReadPosRankSum=-1.797;VQSLOD=4.2672;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,68:153:99:1885,0,2217 13 41382711 41382711 A T exonic SLC25A15 nonsynonymous SNV SLC25A15:NM_014252:exon6:c.A760T:p.I254L 0.32 0.17 0.41 0.38 0.45 0.27 0.3725 0.1957 0.3438 0.3651 0.4531 0.4208 0.4116 0.2749 0.34 0.2 0.41 0.29 0.27 rs17849654 COSM3753692 1(large_intestine) Benign|Benign not_specified|Hyperornithinemia-hyperammonemia-homocitrullinuria_syndrome RCV000128071.2|RCV000273122.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268540:238970:ORPHA415:30287008 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.003 0.080 B 0.116 0.192 N 1 0.090 P -0.765 0.017 N -1.17 0.782 T 0.32 0.040 N 0.076 0.067 -0.955 0.402 T 0.000 0.000 T . . . -1.038 0.031 0.013 0.662 0.078 0.108 0.160 N c -1.082 -1.062 0.695 0.226 0.732 0.924 0 0.251 0.147 1.376 0.337 0.099 0.198 0.057 0.215 0.110 0.193 5.975 0.185 Mitochondrial carrier domain ENSG00000102743.10|ENSG00000102743.10|ENSG00000102743.10|ENSG00000102743.10|ENSG00000176268.5|ENSG00000102743.10|ENSG00000102743.10|ENSG00000102743.10|ENSG00000120688.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal 0.3764 0.1889 0.3606 0.4344 0.3661 0.4542 0.4170 0.3993 0.2780 0.3395 0.1940 0.3565 0.3775 0.3568 0.4310 0.3965 0.3842 hom 2096.44 63 13 41382711 . A T 2096.44 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.37;MQ0=0;QD=33.28;VQSLOD=8.6854;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2129,169,0 13 41515286 41515286 T A exonic ELF1 nonsynonymous SNV ELF1:NM_001145353:exon7:c.A955T:p.T319S,ELF1:NM_172373:exon8:c.A1027T:p.T343S 0.41 0.15 0.67 0.15 0.71 0.55 0.5957 0.2046 0.6838 0.1679 0.7158 0.6877 0.6123 0.5839 0.52 0.22 0.68 0.38 0.61 rs1056820 COSM4778217;COSM1366878 1(liver);3(prostate);1(large_intestine) . . . . . . . . . . . 0.994 0.019 T 0.004 0.135 B 0.011 0.166 B 0.187 0.169 N 0.161 0.350 P 1.59 0.404 L 0.61 0.535 T -0.45 0.148 N 0.02 0.005 -0.951 0.408 T 0.000 0.000 T . . . 1.436 0.235 12.98 0.952 0.257 0.877 0.470 D c -0.401 -0.211 0.993 0.332 0.707 0.730 0 4.3 0.504 0.570 0.232 1.061 0.807 1.000 0.715 1.000 0.888 5.668 0.169 Winged helix-turn-helix DNA-binding domain ENSG00000176268.5|ENSG00000176268.5|ENSG00000168852.8|ENSG00000176268.5|ENSG00000176268.5|ENSG00000176268.5|ENSG00000176268.5|ENSG00000176268.5|ENSG00000229473.2|ENSG00000176268.5|ENSG00000239827.4 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.6059 0.2018 0.6863 0.6384 0.1658 0.7132 0.6856 0.6300 0.5840 0.5122 0.2065 0.6802 0.5662 0.1486 0.7174 0.6633 0.6268 hom 4623.94 143 13 41515286 . T A 4623.94 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7825;MQ=59.24;MQ0=0;QD=32.34;VQSLOD=9.0195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4623,367,0 13 41517985 41517985 A G exonic ELF1 synonymous SNV ELF1:NM_001145353:exon5:c.T534C:p.D178D,ELF1:NM_172373:exon6:c.T606C:p.D202D 0.41 0.15 0.67 0.15 0.71 0.55 0.5972 0.2068 0.6846 0.1688 0.7173 0.6887 0.6131 0.5875 0.52 0.22 0.68 0.38 0.57 rs3764056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6058 0.2023 0.6868 0.6415 0.1659 0.7132 0.6852 0.6299 0.5843 0.5124 0.2065 0.6814 0.5695 0.1522 0.7171 0.6634 0.6270 hom 1052.56 42 13 41517985 . A G 1052.56 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;QD=25.06;VQSLOD=7.9068;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:84.25:1086,84,0 13 41533052 41533052 T C exonic ELF1 nonsynonymous SNV ELF1:NM_001145353:exon2:c.A173G:p.N58S,ELF1:NM_172373:exon3:c.A173G:p.N58S 0.43 0.19 0.67 0.17 0.71 0.56 0.6077 0.2458 0.6903 0.1873 0.7119 0.6976 0.6156 0.5922 0.54 0.26 0.69 0.39 0.63 rs7799 COSM1366882;COSM4778058 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 0.165 0.232 T 0.012 0.158 B 0.019 0.195 B 0.003 0.358 N 0.794 0.292 P 1.08 0.273 L 0.87 0.464 T -2.03 0.466 N 0.005 0.000 -0.996 0.310 T 0.000 0.000 T . . . 1.119 0.202 11.32 0.980 0.370 0.531 0.290 D c -0.465 -0.321 1.000 0.747 0.707 0.730 0 0.352 0.152 0.045 0.138 0.964 0.580 0.992 0.373 1.000 0.888 9.591 0.385 Transcription factor Elf\x2c N-terminal ENSG00000176268.5|ENSG00000168852.8|ENSG00000176268.5|ENSG00000176268.5|ENSG00000176268.5|ENSG00000176268.5|ENSG00000176268.5|ENSG00000229473.2|ENSG00000239827.4 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6174 0.2449 0.6956 0.6459 0.1856 0.7087 0.6965 0.6378 0.5938 0.5299 0.2481 0.6854 0.5795 0.1737 0.7152 0.6726 0.6329 hom 6574.28 207 13 41533052 . T C 6574.28 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7192;MQ=59.61;MQ0=0;QD=31.76;VQSLOD=8.0253;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6574,503,0 13 41705495 41705495 A G exonic KBTBD6 synonymous SNV KBTBD6:NM_152903:exon1:c.T1153C:p.L385L 0.96 0.89 0.99 0.98 1. 0.98 0.9850 0.8905 0.9951 0.9808 1 0.9984 0.9857 0.9795 0.96 0.89 1. 0.95 1. rs584594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9873 0.8893 0.9946 0.9844 0.9806 1.0000 0.9992 0.9934 0.9793 0.9687 0.8959 0.9916 0.9603 0.9852 1 0.9995 0.9888 hom 8122.62 250 13 41705495 . A G 8122.62 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6550;MQ=57.80;MQ0=0;QD=32.49;VQSLOD=8.1750;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8122,632,0 13 41814531 41814531 C T exonic MTRF1 nonsynonymous SNV MTRF1:NM_004294:exon6:c.G736A:p.G246S 0.0014 0.0008 0.0014 . 0.005 . 0.0033 0.0014 0.0016 0 0.0006 0.0052 0 0.0011 0.0047 0.0023 0.0059 . 0.0082 rs150939191 . . . . . . . . . . . . . 0.644 0.049 T 0.006 0.126 B 0.002 0.063 B 0.217 0.162 N 1 0.090 N 0.915 0.234 L 0.88 0.460 T -0.55 0.168 N 0.116 0.127 -1.050 0.145 T 0.045 0.195 T 0.003 0.062 T -0.023 0.091 2.369 0.566 0.055 0.017 0.054 N c -1.182 -1.201 0.047 0.147 0.706 0.609 0 -1.55 0.081 -0.024 0.123 0.091 0.195 0.000 0.063 0.890 0.374 6.676 0.221 Peptide chain release factor . . 0.0033 0.0017 0.0017 0.0002 0 0.0013 0.0059 0.0029 0.0012 0.0035 0.0010 0.0024 0 0 0.0011 0.0057 0.0082 het 1378.16 100 13 41814531 . C T 1378.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.984;DP=100;Dels=0.00;FS=1.725;HRun=0;HaplotypeScore=1.9736;MQ=59.63;MQ0=0;MQRankSum=0.859;QD=13.78;ReadPosRankSum=-0.107;VQSLOD=5.0603;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,52:100:99:1408,0,1241 13 41834744 41834744 C T exonic MTRF1 synonymous SNV MTRF1:NM_004294:exon2:c.G300A:p.E100E 0.67 0.71 0.73 0.55 0.71 0.67 0.7004 0.7343 0.7126 0.5722 0.7855 0.7082 0.7059 0.6718 0.72 0.73 0.71 0.71 0.73 rs2297555 COSM5426227 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7020 0.7384 0.7134 0.6632 0.5684 0.7865 0.7089 0.6935 0.6741 0.7298 0.7421 0.7208 0.6225 0.5478 0.7876 0.7307 0.7423 hom 8317.26 250 13 41834744 . C T 8317.26 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;MQRankSum=-1.012;QD=33.27;ReadPosRankSum=1.400;VQSLOD=9.1544;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8294,618,0 13 41835039 41835039 T C exonic MTRF1 nonsynonymous SNV MTRF1:NM_004294:exon2:c.A5G:p.N2S 0.071 0.17 0.042 0.003 0.066 0.032 0.0678 0.1672 0.0384 0.0003 0.0882 0.0723 0.0657 0.0336 0.097 0.16 0.067 0.087 0.057 rs9532758 . . . . . . . . . . . . . 0.572 0.061 T 0.01 0.144 B 0.005 0.104 B 0.378 0.134 N 0.996 0.231 P 1.59 0.404 L 3.05 0.208 T -0.04 0.140 N 0.069 0.056 -0.938 0.429 T 0.000 0.000 T . . . 0.419 0.134 6.781 0.930 0.220 0.702 0.342 D c -0.822 -0.655 0.999 0.393 0.732 0.924 0 -0.275 0.122 0.608 0.237 -0.321 0.076 0.968 0.339 0.995 0.604 9.832 0.399 . . . 0.0659 0.1686 0.0436 0.0796 0.0002 0.0888 0.0705 0.0781 0.0349 0.0941 0.1688 0.0513 0.07 0 0.0969 0.0641 0.0798 het 676.10 60 13 41835039 . T C 676.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.682;DP=60;Dels=0.00;FS=4.424;HRun=0;HaplotypeScore=0.8667;MQ=59.54;MQ0=0;MQRankSum=-1.426;QD=11.27;ReadPosRankSum=-1.547;VQSLOD=5.3095;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,24:60:99:706,0,946 13 41902939 41902939 T C exonic NAA16 synonymous SNV NAA16:NM_001110798:exon7:c.T771C:p.N257N,NAA16:NM_018527:exon7:c.T771C:p.N257N,NAA16:NM_024561:exon7:c.T771C:p.N257N 0.96 0.98 0.97 0.97 0.91 0.99 0.9473 0.9779 0.9651 0.9800 0.9610 0.9247 0.9338 0.9851 0.94 0.98 0.92 0.99 0.74 rs3812896 COSM3765700;COSM3765699;COSM3765698 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9459 0.9794 0.9599 0.8710 0.9793 0.9603 0.9252 0.9379 0.9850 0.9546 0.9812 0.9664 0.8676 0.9864 0.9636 0.9353 0.9449 hom 1677.24 56 13 41902939 . T C 1677.24 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=29.95;VQSLOD=8.7618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1710,129,0 13 42032572 42032572 T C exonic RGCC synonymous SNV RGCC:NM_014059:exon2:c.T201C:p.S67S 0.56 0.78 0.54 0.68 0.39 0.3 0.5009 0.7399 0.6717 0.7143 0.4952 0.4461 0.4655 0.3458 0.46 0.65 0.37 0.52 0.26 rs7136 COSM3753693 1(breast);6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4622 0.7235 0.6264 0.3790 0.6869 0.4132 0.3980 0.4451 0.3131 0.5073 0.7287 0.5909 0.3874 0.7074 0.4141 0.3842 0.3898 het 273.68 25 13 42032572 . T C 273.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.006;DP=25;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.897;QD=10.95;ReadPosRankSum=0.136;VQSLOD=6.4292;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:304,0,323 13 42404710 42404710 C T exonic VWA8 nonsynonymous SNV VWA8:NM_001009814:exon14:c.G1655A:p.R552H,VWA8:NM_015058:exon14:c.G1655A:p.R552H 0.045 0.087 0.039 . 0.042 0.044 0.0454 0.0889 0.0233 0.0005 0.0194 0.0499 0.0419 0.0491 0.064 0.09 0.051 0.087 0.057 rs41288297 . . . . . . . . . . . . . 0.137 0.259 T 0.002 0.090 B 0.009 0.133 B 0.182 0.171 N 1 0.090 N 1.355 0.339 L 2.92 0.120 T -1.04 0.275 N 0.048 0.036 -0.968 0.377 T 0.001 0.003 T . . . 2.682 0.383 20.7 0.981 0.374 0.065 0.123 N c -0.890 -0.786 1.000 0.420 0.706 0.609 0 2.3 0.276 0.861 0.273 0.069 0.176 0.001 0.137 0.864 0.361 4.299 0.103 AAA+ ATPase domain|ATPase\x2c dynein-related\x2c AAA domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0428 0.0880 0.0255 0.0582 0.0003 0.0189 0.0496 0.0478 0.0497 0.0507 0.0838 0.0227 0.0762 0.0006 0.0206 0.0458 0.0367 het 1167.72 106 13 42404710 . C T 1167.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.394;DP=106;Dels=0.00;FS=1.567;HRun=0;HaplotypeScore=0.0000;MQ=58.92;MQ0=1;MQRankSum=-0.676;QD=11.02;ReadPosRankSum=-1.843;VQSLOD=5.3340;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,52:106:99:1198,0,1269 13 42729441 42729441 C T exonic DGKH synonymous SNV DGKH:NM_152910:exon4:c.C399T:p.F133F,DGKH:NM_178009:exon4:c.C399T:p.F133F,DGKH:NM_001204504:exon5:c.C399T:p.F133F 0.051 0.016 0.048 0.018 0.099 0.088 0.0951 0.0280 0.0516 0.0318 0.1095 0.1139 0.1104 0.1187 0.08 0.025 0.11 0.033 0.098 rs3208827 COSM3999090 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0927 0.0251 0.0480 0.1285 0.0291 0.1045 0.1109 0.1157 0.1179 0.0825 0.0288 0.0513 0.1523 0.0371 0.1097 0.1118 0.0957 het 3883.75 250 13 42729441 . C T 3883.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.769;DP=250;DS;Dels=0.00;FS=5.406;HRun=2;HaplotypeScore=4.1756;MQ=59.59;MQ0=0;MQRankSum=-0.680;QD=15.54;ReadPosRankSum=-0.647;VQSLOD=4.4445;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3278,0,3391 13 42764564 42764564 C G exonic DGKH synonymous SNV DGKH:NM_001297429:exon12:c.C1203G:p.P401P,DGKH:NM_001204505:exon14:c.C1530G:p.P510P,DGKH:NM_001204506:exon14:c.C1530G:p.P510P,DGKH:NM_152910:exon16:c.C1938G:p.P646P,DGKH:NM_178009:exon16:c.C1938G:p.P646P,DGKH:NM_001204504:exon17:c.C1938G:p.P646P 0.17 0.064 0.27 0.094 0.26 0.25 0.2643 0.0961 0.3842 0.1086 0.3097 0.2810 0.2445 0.2829 0.21 0.1 0.27 0.14 0.43 rs7324235 COSM1366930;COSM3753694 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2675 0.0891 0.3733 0.2505 0.1028 0.2985 0.2774 0.2818 0.2802 0.2253 0.0922 0.3341 0.2815 0.1111 0.2997 0.2894 0.2434 het 1851.31 185 13 42764564 . C G 1851.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.790;DP=185;Dels=0.00;FS=1.836;HRun=0;HaplotypeScore=6.9627;MQ=58.89;MQ0=0;MQRankSum=-0.699;QD=10.01;ReadPosRankSum=0.042;VQSLOD=4.2046;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,77:185:99:1881,0,2790 13 42875089 42875089 C T exonic AKAP11 nonsynonymous SNV AKAP11:NM_016248:exon8:c.C2207T:p.S736L 0.0056 0.011 0.011 . 0.006 . 0.0069 0.0144 0.0097 0 0.0053 0.0075 0.0044 0.0019 0.01 0.016 0.0073 0.022 . rs79681827 . . . . . . . . . . . . . 0.99 0.020 T 0.066 0.221 B 0.011 0.145 B 0.396 0.045 N 1 0.090 N 0.55 0.145 N 2.45 0.150 T -1.32 0.330 N 0.028 0.009 -0.988 0.331 T 0.015 0.058 T . . . 0.018 0.095 2.759 0.150 0.004 0.222 0.214 N c -0.849 -0.811 0.999 0.377 0.707 0.730 0 2.3 0.276 0.652 0.244 0.036 0.152 0.000 0.063 0.118 0.195 8.245 0.307 . . . 0.0066 0.0142 0.0094 0.0024 0 0.0056 0.0075 0.0082 0.0017 0.0083 0.0142 0.0107 0.0033 0 0.0049 0.0063 0.0133 het 1478.76 121 13 42875089 . C T 1478.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.214;DP=121;Dels=0.00;FS=7.084;HRun=1;HaplotypeScore=2.5677;MQ=58.63;MQ0=0;MQRankSum=-0.047;QD=12.22;ReadPosRankSum=-0.316;VQSLOD=4.8183;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,55:121:99:1509,0,1677 13 43148565 43148565 T C exonic TNFSF11 synonymous SNV TNFSF11:NM_003701:exon1:c.T126C:p.P42P 0.47 0.56 0.42 0.44 0.47 0.39 0.5236 0.5954 0.4856 0.5327 0.6124 0.5351 0.5417 0.4407 0.39 0.43 0.36 0.34 0.15 rs2296533 COSM3723911 1(breast);1(upper_aerodigestive_tract);4(large_intestine) Benign|Benign not_specified|Osteopetrosis RCV000173308.2|RCV000394042.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011002:C0029454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4425 0.5189 0.3908 0.3189 0.4610 0.5279 0.4578 0.4258 0.3957 0.4898 0.5183 0.4138 0.3267 0.5037 0.5328 0.4686 0.4980 het 238.86 18 13 43148565 . T C 238.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.265;DP=18;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=-1.854;QD=13.27;ReadPosRankSum=0.353;VQSLOD=4.9592;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:269,0,269 13 43469157 43469157 G A exonic EPSTI1 synonymous SNV EPSTI1:NM_001331228:exon9:c.C522T:p.S174S,EPSTI1:NM_033255:exon10:c.C903T:p.S301S,EPSTI1:NM_001002264:exon11:c.C936T:p.S312S,EPSTI1:NM_001330543:exon11:c.C936T:p.S312S 0.46 0.4 0.44 0.62 0.32 0.54 0.3802 0.3867 0.3991 0.6118 0.3035 0.3225 0.3647 0.5065 0.35 0.38 0.33 0.38 0.19 rs1128105 COSM4415349 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3767 0.3799 0.3929 0.3577 0.6078 0.2965 0.3220 0.3476 0.4989 0.3595 0.3897 0.3900 0.2781 0.5942 0.2925 0.3316 0.3694 hom 1056.41 33 13 43469157 . G A 1056.41 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.01;VQSLOD=13.9100;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:87.27:1089,87,0 13 43469211 43469211 G A exonic EPSTI1 synonymous SNV EPSTI1:NM_001331228:exon9:c.C468T:p.G156G,EPSTI1:NM_033255:exon10:c.C849T:p.G283G,EPSTI1:NM_001002264:exon11:c.C882T:p.G294G,EPSTI1:NM_001330543:exon11:c.C882T:p.G294G 0.47 0.41 0.46 0.62 0.34 0.55 0.3905 0.3962 0.4067 0.6127 0.3210 0.3350 0.3789 0.5121 0.36 0.39 0.35 0.38 0.24 rs1359184 COSM4415362 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3893 0.3907 0.4034 0.3615 0.6091 0.3153 0.3376 0.3593 0.5069 0.3744 0.3980 0.3974 0.2848 0.5943 0.3123 0.3512 0.3880 hom 1182.70 45 13 43469211 . G A 1182.70 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=26.28;VQSLOD=7.9361;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:93.29:1216,93,0 13 43597865 43597865 A G exonic DNAJC15 nonsynonymous SNV DNAJC15:NM_013238:exon1:c.A103G:p.R35G 0.24 0.43 0.22 0.1 0.25 0.11 0.2704 0.4584 0.2093 0.1516 0.3139 0.2912 0.2206 0.1584 0.3 0.41 0.24 0.32 0.12 rs12015 . . . . . . . . . . . . . 0.537 0.069 T 0.0 0.026 B 0.0 0.013 B 0.608 0.109 N 1 0.090 P -0.37 0.031 N 0.91 0.449 T 0.18 0.050 N 0.027 0.009 -0.918 0.458 T 0.000 0.000 T . . . 0.141 0.107 4.051 0.618 0.066 0.001 0.007 N c -1.434 -1.390 1.000 0.747 0.442 0.072 0 0.561 0.164 -0.621 0.056 -0.507 0.051 0.000 0.063 0.004 0.083 4.356 0.105 . ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4|ENSG00000120675.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Vagina|Whole_Blood 0.2166 0.4095 0.1661 0.2171 0.1125 0.2430 0.2410 0.2136 0.1387 0.2801 0.3980 0.1974 0.2318 0.1046 0.2344 0.2519 0.2016 hom 906.36 30 13 43597865 . A G 906.36 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.21;VQSLOD=14.3701;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:72.23:939,72,0 13 43788158 43788158 G A exonic ENOX1 synonymous SNV ENOX1:NM_001347963:exon16:c.C2005T:p.L669L,ENOX1:NM_001347965:exon16:c.C1900T:p.L634L,ENOX1:NM_001347967:exon16:c.C1900T:p.L634L,ENOX1:NM_001347970:exon16:c.C1783T:p.L595L,ENOX1:NM_001347971:exon16:c.C1783T:p.L595L,ENOX1:NM_001127615:exon17:c.C1900T:p.L634L,ENOX1:NM_001242863:exon17:c.C1900T:p.L634L,ENOX1:NM_001347969:exon17:c.C1900T:p.L634L,ENOX1:NM_017993:exon17:c.C1900T:p.L634L,ENOX1:NM_001347964:exon18:c.C1900T:p.L634L,ENOX1:NM_001347966:exon18:c.C1900T:p.L634L,ENOX1:NM_001347968:exon18:c.C1900T:p.L634L 0.73 0.69 0.68 0.72 0.88 0.69 0.7972 0.7161 0.5911 0.7003 0.8546 0.8726 0.8139 0.7146 0.82 0.71 0.87 0.67 0.81 rs703207 COSM3765703;COSM3765704 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7954 0.7142 0.6091 0.9272 0.7060 0.8616 0.8720 0.8299 0.7140 0.8093 0.7222 0.6384 0.9205 0.7041 0.8540 0.8665 0.8337 hom 4348.19 143 13 43788158 . G A 4348.19 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9277;MQ=59.42;MQ0=0;QD=30.41;VQSLOD=8.8865;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:143:99:4347,355,0 13 44411432 44411432 A G exonic CCDC122 nonsynonymous SNV CCDC122:NM_001350617:exon5:c.T443C:p.I148T,CCDC122:NM_001350618:exon5:c.T443C:p.I148T,CCDC122:NM_144974:exon7:c.T806C:p.I269T 0.062 0.0023 0.045 0.11 0.058 0.11 0.0524 0.0063 0.0431 0.0965 0.0475 0.0474 0.0501 0.0859 0.035 0.0067 0.048 0.011 0.025 rs9567280 . . . . . . . . . . . . . 0.008 0.586 D 0.835 0.443 P 0.466 0.448 P . . . 1.000 0.090 P 2.34 0.674 M 0.9 0.453 T -0.86 0.234 N 0.246 0.301 -1.005 0.285 T 0.004 0.012 T . . . 4.693 0.629 24.6 0.990 0.491 0.864 0.454 D c 0.207 0.177 1.000 0.432 0.638 0.428 0 5.35 0.762 4.707 0.613 0.201 0.252 0.835 0.300 0.023 0.138 13.008 0.579 . . . 0.0545 0.0071 0.0465 0.0850 0.0996 0.0505 0.0467 0.0463 0.0844 0.0462 0.0079 0.0430 0.1126 0.0962 0.0458 0.0611 0.0601 het 864.92 88 13 44411432 . A G 864.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.244;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9943;MQ=59.31;MQ0=0;MQRankSum=-0.878;QD=9.83;ReadPosRankSum=0.347;VQSLOD=5.8156;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,34:88:99:895,0,1359 13 44457925 44457925 A G exonic LACC1 nonsynonymous SNV LACC1:NM_001128303:exon4:c.A760G:p.I254V,LACC1:NM_001350639:exon4:c.A760G:p.I254V,LACC1:NM_001350640:exon4:c.A760G:p.I254V,LACC1:NM_001350642:exon4:c.A760G:p.I254V,LACC1:NM_001350643:exon4:c.A760G:p.I254V,LACC1:NM_153218:exon4:c.A760G:p.I254V,LACC1:NM_001350638:exon5:c.A760G:p.I254V,LACC1:NM_001350641:exon5:c.A760G:p.I254V 0.31 0.3 0.36 0.35 0.23 0.3 0.2702 0.3092 0.4092 0.3116 0.2080 0.2355 0.2539 0.2931 0.25 0.29 0.23 0.34 0.19 rs3764147 COSM3999093 4(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . Crohn's disease 1.25 . 18587394 rs3764147 2E-13 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.001 0.424 N 0.971 0.256 P -1.545 0.005 N 1.42 0.332 T 0.43 0.033 N 0.024 0.007 -0.914 0.464 T 0.000 0.000 T . . . -0.280 0.070 0.735 0.841 0.146 0.112 0.163 N c -0.934 -0.694 1.000 0.517 0.638 0.428 0 1.94 0.249 2.740 0.468 -0.226 0.095 1.000 0.715 0.753 0.322 8.856 0.342 Cytotoxic necrotizing factor-like\x2c catalytic ENSG00000179630.6|ENSG00000179630.6|ENSG00000179630.6|ENSG00000179630.6|ENSG00000179630.6|ENSG00000179630.6|ENSG00000151773.8|ENSG00000151773.8 Adipose_Subcutaneous|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal 0.2767 0.3108 0.3948 0.4001 0.3097 0.2091 0.2310 0.2682 0.2898 0.2599 0.3090 0.3386 0.3841 0.3050 0.1982 0.2356 0.2367 het 607.27 63 13 44457925 . A G 607.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.104;DP=63;Dels=0.00;FS=5.399;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=0.007;QD=9.64;ReadPosRankSum=-0.563;VQSLOD=5.0627;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,27:63:99:637,0,913 13 44457984 44457984 A G exonic LACC1 synonymous SNV LACC1:NM_001128303:exon4:c.A819G:p.R273R,LACC1:NM_001350639:exon4:c.A819G:p.R273R,LACC1:NM_001350640:exon4:c.A819G:p.R273R,LACC1:NM_001350642:exon4:c.A819G:p.R273R,LACC1:NM_001350643:exon4:c.A819G:p.R273R,LACC1:NM_001350644:exon4:c.A51G:p.R17R,LACC1:NM_001350646:exon4:c.A51G:p.R17R,LACC1:NM_001350647:exon4:c.A51G:p.R17R,LACC1:NM_001350648:exon4:c.A51G:p.R17R,LACC1:NM_153218:exon4:c.A819G:p.R273R,LACC1:NM_001350638:exon5:c.A819G:p.R273R,LACC1:NM_001350641:exon5:c.A819G:p.R273R,LACC1:NM_001350645:exon5:c.A51G:p.R17R 0.065 0.1 0.079 . 0.1 0.032 0.0753 0.1092 0.0646 0.0016 0.0298 0.0961 0.0716 0.0346 0.1 0.11 0.1 0.076 0.082 rs9533673 COSM3765705 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0726 0.1062 0.0677 0.0712 5.807e-05 0.0275 0.0993 0.0894 0.0349 0.0848 0.1037 0.0813 0.0795 0.0006 0.0321 0.0970 0.0621 het 1086.39 89 13 44457984 . A G 1086.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.254;DP=89;Dels=0.00;FS=0.786;HRun=2;HaplotypeScore=2.9622;MQ=57.94;MQ0=0;MQRankSum=1.085;QD=12.21;ReadPosRankSum=-0.334;VQSLOD=5.4444;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,44:89:99:1116,0,1092 13 45563464 45563464 G C exonic NUFIP1 nonsynonymous SNV NUFIP1:NM_012345:exon1:c.C108G:p.S36R 0.51 0.13 0.64 0.56 0.77 0.62 0.6807 0.2083 0.6715 0.5598 0.7052 0.7714 0.7028 0.6469 0.58 0.23 0.77 0.4 0.61 rs1140993 COSM3765707 2(liver) . . . . . . . . . . . 0.064 0.365 T 0.148 0.263 B 0.038 0.220 B 0.858 0.089 N 1 0.090 P 0.69 0.170 N 0.95 0.433 T -0.39 0.136 N 0.056 0.039 -1.001 0.296 T 0.000 0.000 T . . . 1.544 0.248 13.55 0.908 0.195 0.062 0.120 N c -0.946 -0.986 1.000 0.747 0.442 0.072 0 1.29 0.206 0.265 0.181 0.953 0.551 0.002 0.151 0.033 0.150 5.711 0.171 . . . 0.6856 0.1944 0.6802 0.7742 0.5501 0.7021 0.7744 0.7165 0.6401 0.5859 0.2041 0.6909 0.7914 0.5484 0.7100 0.7661 0.6834 hom 665.97 24 13 45563464 . G C 665.97 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.82;MQ0=1;QD=27.75;VQSLOD=7.4647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,23:24:54.17:699,54,0 13 45841502 45841502 G A exonic GTF2F2 synonymous SNV GTF2F2:NM_004128:exon7:c.G621A:p.K207K 0.32 0.75 0.22 0.057 0.23 0.16 0.2507 0.6961 0.1457 0.0593 0.2047 0.2436 0.2405 0.1891 0.39 0.68 0.25 0.39 0.2 rs7331090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2369 0.7025 0.1562 0.2290 0.0632 0.2009 0.2448 0.2450 0.1855 0.3500 0.6828 0.1942 0.2119 0.0675 0.2106 0.2383 0.2372 het 2643.52 235 13 45841502 . G A 2643.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.011;DP=235;DS;Dels=0.00;FS=4.499;HRun=3;HaplotypeScore=4.7833;MQ=59.42;MQ0=0;MQRankSum=-0.289;QD=11.25;ReadPosRankSum=2.432;VQSLOD=3.4545;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:132,103:235:99:2674,0,3587 13 46067593 46067593 G A exonic COG3 synonymous SNV COG3:NM_031431:exon12:c.G1299A:p.E433E 0.36 0.16 0.38 0.49 0.42 0.43 0.4091 0.2127 0.4311 0.5029 0.3199 0.4239 0.4437 0.4423 0.37 0.23 0.44 0.34 0.46 rs2985959 COSM147683 1(stomach);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4159 0.2092 0.4379 0.5493 0.5010 0.3118 0.4241 0.4352 0.4467 0.3414 0.2154 0.4368 0.5530 0.5025 0.3029 0.3954 0.3637 het 1078.47 88 13 46067593 . G A 1078.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.581;DP=88;Dels=0.00;FS=0.874;HRun=1;HaplotypeScore=0.6651;MQ=59.26;MQ0=0;MQRankSum=0.488;QD=12.26;ReadPosRankSum=1.294;VQSLOD=6.2594;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,36:88:99:1108,0,1440 13 46077381 46077381 G A exonic COG3 synonymous SNV COG3:NM_031431:exon14:c.G1491A:p.Q497Q 0.9 0.94 0.92 0.89 0.86 0.9 0.8893 0.9358 0.9539 0.8743 0.8362 0.8716 0.8888 0.9150 0.9 0.94 0.89 0.89 0.93 rs3014960 COSM3753705 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8931 0.9379 0.9492 0.9066 0.8753 0.8375 0.8764 0.8916 0.9167 0.8860 0.9402 0.9511 0.9205 0.8540 0.8291 0.8688 0.8564 het 988.97 63 13 46077381 . G A 988.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.266;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;MQRankSum=1.651;QD=15.70;ReadPosRankSum=-1.201;VQSLOD=6.2243;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,38:63:99:1019,0,644 13 46103935 46103935 A G exonic COG3 nonsynonymous SNV COG3:NM_031431:exon21:c.A2240G:p.N747S 0.68 0.44 0.82 0.78 0.74 0.76 0.7449 0.4854 0.8848 0.7581 0.705 0.7495 0.7594 0.7994 0.67 0.49 0.76 0.54 0.75 rs2274285 COSM3753706 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.376 N 0.993 0.237 P 0.635 0.160 N 0.94 0.437 T -0.22 0.105 N 0.009 0.001 -0.942 0.424 T 0.000 0.000 T . . . -1.556 0.016 0.002 0.671 0.080 0.517 0.287 D c -1.061 -1.002 1.000 0.462 0.706 0.609 0 -1.32 0.087 2.444 0.443 -1.762 0.007 1.000 0.715 0.879 0.368 6.300 0.202 . ENSG00000136152.10 Artery_Tibial 0.7542 0.4858 0.8712 0.7921 0.7602 0.6960 0.7501 0.7644 0.8005 0.6668 0.4970 0.8484 0.8377 0.7611 0.6797 0.7359 0.7065 het 706.18 51 13 46103935 . A G 706.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.101;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;MQRankSum=-0.386;QD=13.85;ReadPosRankSum=-0.349;VQSLOD=6.7291;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,26:51:99:736,0,728 13 46108853 46108853 T C exonic COG3 nonsynonymous SNV COG3:NM_031431:exon23:c.T2474C:p.L825S 1. 0.99 1. 1. 1. 1. 0.9991 0.9925 0.9997 1 1 1.0000 1 0.9999 1. 0.99 1. 0.21 0.41 rs3014902 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.463 N 1 0.090 P -2.71 0.000 N 1.36 0.344 T 3.67 0.001 N 0.024 0.098 -0.965 0.382 T 0.000 0.000 T . . . 0.234 0.116 5.029 0.668 0.079 0.007 0.029 N c -1.499 -1.294 0.221 0.183 0.732 0.924 0 3.34 0.372 1.258 0.323 -0.339 0.072 0.811 0.296 0.940 0.414 9.063 0.354 . . . 0.9994 0.9921 0.9996 1 1 1 1.0000 0.9993 1.0000 0.9982 0.9937 0.9988 1 1 1 1 0.9990 hom 517.72 17 13 46108853 . T C 517.72 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=30.45;VQSLOD=8.8735;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:45.12:551,45,0 13 46108854 46108854 G A exonic COG3 synonymous SNV COG3:NM_031431:exon23:c.G2475A:p.L825L 0.81 0.7 0.87 0.88 0.81 0.85 0.8390 0.7369 0.9286 0.8798 0.8173 0.8335 0.8744 0.8725 0.79 0.72 0.82 . 0.38 rs2985989 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8406 0.7222 0.9124 0.8947 0.8670 0.7957 0.8215 0.8487 0.8745 0.7864 0.7136 0.9236 0.9139 0.8473 0.7862 0.8113 0.7949 het 194.02 18 13 46108854 . G A 194.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.910;DP=18;Dels=0.00;FS=4.598;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-0.311;QD=10.78;ReadPosRankSum=1.910;VQSLOD=4.7099;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:224,0,248 13 46287373 46287373 C A exonic SPERT stopgain SPERT:NM_001286341:exon2:c.C132A:p.C44X,SPERT:NM_001286342:exon3:c.C105A:p.C35X,SPERT:NM_152719:exon3:c.C213A:p.C71X 0.068 0.16 0.046 0.001 0.049 0.052 0.0511 0.1349 0.0255 0.0005 0.0493 0.0505 0.0738 0.0478 0.075 0.13 0.048 0.098 0.074 rs80072371 . . . . . . . . . . . . . . . . . . . . . . 0.000 0.523 D 1 0.810 D . . . . . . . . . . . . . . . . . . . . 5.112 0.689 25.3 0.983 0.391 0.200 0.207 N c -0.247 -0.595 0.055 0.150 0.554 0.283 0 -0.559 0.112 -0.138 0.103 -0.330 0.074 0.008 0.178 0.001 0.043 4.989 0.135 . . . 0.0484 0.1290 0.0259 0.0588 0.0006 0.0546 0.0493 0.0536 0.0486 0.0700 0.1232 0.0346 0.0497 0 0.0501 0.0549 0.0509 het 873.58 59 13 46287373 . C A 873.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.229;DP=59;Dels=0.00;FS=1.629;HRun=0;HaplotypeScore=2.3569;MQ=60.00;MQ0=0;MQRankSum=0.405;QD=14.81;ReadPosRankSum=-0.740;VQSLOD=6.0313;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,33:59:99:904,0,751 13 46288145 46288145 A G exonic SPERT nonsynonymous SNV SPERT:NM_001286341:exon2:c.A904G:p.K302E,SPERT:NM_001286342:exon3:c.A877G:p.K293E,SPERT:NM_152719:exon3:c.A985G:p.K329E 0.49 0.3 0.49 0.5 0.69 0.56 0.6691 0.4953 0.5965 0.5816 0.7446 0.7276 0.6780 0.6503 0.61 0.41 0.71 0.43 0.19 rs7317245 COSM3749251 10(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.057 0.225 N 1.000 0.090 P -2.42 0.001 N 1.1 0.390 T 1.11 0.012 N 0.019 0.004 -0.935 0.434 T 0.000 0.000 T . . . -1.137 0.027 0.008 0.156 0.004 0.013 0.044 N c -1.029 -0.830 0.160 0.176 0.403 0.052 0 3.16 0.353 0.904 0.279 -0.289 0.083 0.840 0.300 0.094 0.187 5.027 0.136 . . . 0.6073 0.3525 0.5137 0.6822 0.4790 0.6595 0.6921 0.6068 0.6019 0.5823 0.3671 0.5349 0.7185 0.4696 0.6645 0.6958 0.6564 het 112.34 10 13 46288145 . A G 112.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.103;QD=11.23;ReadPosRankSum=0.470;VQSLOD=11.9109;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:142,0,101 13 46541673 46541673 T A exonic ZC3H13 nonsynonymous SNV ZC3H13:NM_001076788:exon15:c.A4287T:p.E1429D,ZC3H13:NM_001330564:exon15:c.A4287T:p.E1429D,ZC3H13:NM_001330565:exon15:c.A4287T:p.E1429D,ZC3H13:NM_001330567:exon15:c.A4287T:p.E1429D,ZC3H13:NM_015070:exon15:c.A4287T:p.E1429D,ZC3H13:NM_001330566:exon16:c.A4287T:p.E1429D 0.78 0.9 0.77 0.8 0.68 0.71 0.7341 0.8595 0.8056 0.8160 0.7893 0.6889 0.7201 0.7173 0.74 0.85 0.69 0.81 0.72 rs9534264 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.289 N 1 0.090 P -0.895 0.014 N 2.69 0.264 T 0.34 0.038 N 0.012 0.001 -0.965 0.382 T 0.000 0.000 T . . . -1.103 0.028 0.010 0.208 0.008 0.036 0.088 N c -1.789 -1.614 0.139 0.172 0.707 0.730 0 3.0 0.336 1.003 0.292 -0.270 0.086 0.378 0.258 0.714 0.313 7.901 0.287 . . . 0.7311 0.8616 0.7890 0.6469 0.8098 0.7828 0.6871 0.7222 0.6976 0.7647 0.8514 0.7804 0.6093 0.7739 0.7822 0.7138 0.7291 het 1003.39 97 13 46541673 . T A 1003.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.063;DP=97;Dels=0.00;FS=1.685;HRun=0;HaplotypeScore=0.9469;MQ=58.53;MQ0=0;MQRankSum=0.752;QD=10.34;ReadPosRankSum=0.410;VQSLOD=5.8945;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,43:97:99:1033,0,1345 13 46543092 46543092 C T exonic ZC3H13 nonsynonymous SNV ZC3H13:NM_001076788:exon14:c.G3587A:p.R1196Q,ZC3H13:NM_001330564:exon14:c.G3587A:p.R1196Q,ZC3H13:NM_001330565:exon14:c.G3587A:p.R1196Q,ZC3H13:NM_001330567:exon14:c.G3587A:p.R1196Q,ZC3H13:NM_015070:exon14:c.G3587A:p.R1196Q,ZC3H13:NM_001330566:exon15:c.G3587A:p.R1196Q 0.0022 . 0.0014 . 0.005 0.0051 0.0048 0.0009 0.0010 0 0.0148 0.0062 0.0022 0.0025 0.0049 0.0011 0.0069 0.022 . rs143879310 . . . . . . . . . . . . . 0.076 0.912 T 0.145 0.288 B 0.024 0.243 B 0.000 0.559 D 0.998 0.489 D 1.555 0.395 L 2.56 0.293 T 0.15 0.057 N 0.192 0.245 -1.079 0.075 T 0.030 0.131 T . . . 3.062 0.428 22.4 0.999 0.959 0.891 0.490 D c 0.010 0.225 1.000 0.420 0.707 0.730 0 5.49 0.809 4.130 0.575 0.935 0.490 1.000 0.715 0.998 0.697 13.015 0.580 . . . 0.0047 0.0004 0.0008 0 0 0.0155 0.0060 0.0042 0.0023 0.0061 0.0010 0.0012 0 0 0.0195 0.0070 0.0071 het 3161.83 225 13 46543092 . C T 3161.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.193;DP=225;DS;Dels=0.00;FS=7.424;HRun=0;HaplotypeScore=3.4090;MQ=58.92;MQ0=0;MQRankSum=1.539;QD=14.05;ReadPosRankSum=0.628;VQSLOD=3.0805;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,114:225:99:3192,0,2833 13 46562935 46562935 A G exonic ZC3H13 synonymous SNV ZC3H13:NM_001076788:exon9:c.T1242C:p.H414H,ZC3H13:NM_001330564:exon9:c.T1242C:p.H414H,ZC3H13:NM_001330565:exon9:c.T1242C:p.H414H,ZC3H13:NM_001330567:exon9:c.T1242C:p.H414H,ZC3H13:NM_015070:exon9:c.T1242C:p.H414H,ZC3H13:NM_001330566:exon10:c.T1242C:p.H414H 0.78 0.9 0.77 0.8 0.68 0.71 0.7318 0.8591 0.8057 0.8164 0.7889 0.6895 0.7141 0.7040 0.74 0.85 0.69 0.81 0.75 rs1134071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7302 0.8616 0.7916 0.6614 0.8094 0.7830 0.6874 0.7154 0.6947 0.7659 0.8517 0.7799 0.6291 0.7741 0.7836 0.7151 0.7327 het 1542.76 159 13 46562935 . A G 1542.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.003;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5393;MQ=59.05;MQ0=1;MQRankSum=-0.563;QD=9.70;ReadPosRankSum=0.793;VQSLOD=5.5505;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,71:159:99:1573,0,2399 13 46629944 46629944 A G exonic CPB2 nonsynonymous SNV CPB2:NM_001278541:exon9:c.T929C:p.I310T,CPB2:NM_001872:exon10:c.T1040C:p.I347T 0.78 0.9 0.77 0.81 0.69 0.7 0.7416 0.8659 0.8100 0.8175 0.8129 0.7047 0.7274 0.6971 0.76 0.86 0.7 0.81 0.71 rs1926447 COSM5959995 1(thyroid) . . . . . . . . . . . 0.695 0.042 T 0.0 0.026 B 0.001 0.040 B 0.615 0.057 N 1 0.090 P -0.705 0.018 N 2.85 0.106 T -0.16 0.123 N 0.006 0.031 -1.016 0.249 T 0.000 0.000 T . . . -1.555 0.016 0.002 0.347 0.021 0.003 0.017 N c -1.899 -1.908 1.000 0.747 0.554 0.283 0 -7.55 0.012 -0.873 0.043 -0.629 0.042 0.000 0.063 0.001 0.043 11.286 0.483 Peptidase M14\x2c carboxypeptidase A . . 0.7403 0.8689 0.7949 0.6583 0.8107 0.8079 0.7039 0.7264 0.6918 0.7824 0.8624 0.7890 0.6192 0.7735 0.8067 0.7364 0.7480 het 1809.65 133 13 46629944 . A G 1809.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.786;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.65;MQ0=0;MQRankSum=1.200;QD=13.61;ReadPosRankSum=-0.306;VQSLOD=6.2331;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,75:133:99:1840,0,1398 13 46641466 46641466 A G exonic CPB2 synonymous SNV CPB2:NM_001872:exon7:c.T678C:p.D226D 0.31 0.42 0.31 0.26 0.34 0.17 0.3111 0.3916 0.2857 0.2634 0.3962 0.3252 0.3389 0.2106 0.35 0.39 0.32 0.45 0.3 rs9316179 COSM4418494 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3131 0.3888 0.2936 0.3571 0.2604 0.3981 0.3234 0.3162 0.2122 0.3518 0.3859 0.3106 0.3311 0.2512 0.3872 0.3384 0.3361 het 834.82 89 13 46641466 . A G 834.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.232;DP=89;Dels=0.00;FS=6.044;HRun=0;HaplotypeScore=0.6651;MQ=57.92;MQ0=0;MQRankSum=0.725;QD=9.38;ReadPosRankSum=-0.279;VQSLOD=4.8077;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,38:89:99:865,0,1272 13 46641481 46641481 T C exonic CPB2 synonymous SNV CPB2:NM_001872:exon7:c.A663G:p.P221P 0.81 0.91 0.79 0.82 0.74 0.72 0.7649 0.8824 0.8236 0.8338 0.8202 0.7351 0.7539 0.7123 0.78 0.88 0.74 0.84 0.69 rs7337140 COSM3999100 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7654 0.8827 0.8135 0.7021 0.8300 0.8144 0.7366 0.7545 0.7092 0.8058 0.8773 0.8007 0.6854 0.7999 0.8099 0.7695 0.7628 het 856.01 97 13 46641481 . T C 856.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.843;DP=97;Dels=0.00;FS=2.840;HRun=1;HaplotypeScore=6.5795;MQ=57.94;MQ0=0;MQRankSum=2.797;QD=8.82;ReadPosRankSum=0.522;VQSLOD=3.4832;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,39:97:99:886,0,1382 13 46648094 46648094 C T exonic CPB2 nonsynonymous SNV CPB2:NM_001278541:exon6:c.G505A:p.A169T,CPB2:NM_001872:exon6:c.G505A:p.A169T 0.31 0.43 0.3 0.26 0.34 0.17 0.3116 0.3934 0.2805 0.2608 0.3954 0.3264 0.3377 0.2130 0.35 0.39 0.32 0.43 0.34 rs3742264 COSM4416829 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.606 0.055 T 0.0 0.026 B 0.0 0.013 B 0.619 0.108 N 1 0.090 P -1.03 0.011 N 1.57 0.293 T 0.61 0.025 N 0.016 0.003 -0.901 0.479 T 0.000 0.000 T . . . 1.460 0.238 13.10 0.781 0.117 0.001 0.006 N c -1.157 -1.052 0.891 0.258 0.487 0.133 0 2.66 0.305 0.748 0.258 0.154 0.240 0.000 0.063 0.886 0.372 4.689 0.121 Peptidase M14\x2c carboxypeptidase A ENSG00000235903.3|ENSG00000235903.3|ENSG00000235903.3|ENSG00000235903.3|ENSG00000123200.12|ENSG00000235903.3 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3120 0.3892 0.2873 0.3565 0.2575 0.3975 0.3233 0.3160 0.2134 0.3517 0.3866 0.3101 0.3311 0.2478 0.3875 0.3379 0.3378 het 1332.55 93 13 46648094 . C T 1332.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.140;DP=93;Dels=0.00;FS=6.579;HRun=2;HaplotypeScore=2.7737;MQ=59.75;MQ0=0;MQRankSum=0.493;QD=14.33;ReadPosRankSum=-1.657;VQSLOD=4.6711;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,53:93:99:1363,0,1099 13 46656669 46656669 A G exonic CPB2 synonymous SNV CPB2:NM_001278541:exon4:c.T291C:p.D97D,CPB2:NM_001872:exon4:c.T291C:p.D97D 0.8 0.89 0.79 0.82 0.74 0.72 0.7631 0.8656 0.8213 0.8281 0.8196 0.7356 0.75 0.7128 0.78 0.86 0.74 0.83 0.72 rs2296642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7637 0.8647 0.8116 0.7022 0.8247 0.8136 0.7372 0.7541 0.7087 0.8007 0.8596 0.7983 0.6887 0.7915 0.8084 0.7705 0.7638 het 1488.91 101 13 46656669 . A G 1488.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.917;DP=101;Dels=0.00;FS=0.851;HRun=0;HaplotypeScore=2.3110;MQ=58.80;MQ0=0;MQRankSum=-0.457;QD=14.74;ReadPosRankSum=0.115;VQSLOD=6.2688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,62:101:99:1519,0,882 13 46705068 46705068 C A exonic LCP1 synonymous SNV LCP1:NM_002298:exon15:c.G1632T:p.P544P 0.064 0.0098 0.095 0.027 0.17 0.04 0.1492 0.0334 0.0658 0.0244 0.2648 0.2088 0.1397 0.0572 0.15 0.044 0.2 0.043 0.15 rs11558762 COSM5021794 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1513 0.0316 0.0701 0.1879 0.0251 0.2678 0.2067 0.1555 0.0561 0.1554 0.0356 0.0885 0.1623 0.0191 0.2717 0.2139 0.1959 het 1516.15 156 13 46705068 . C A 1516.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.509;DP=156;Dels=0.00;FS=2.213;HRun=0;HaplotypeScore=0.9995;MQ=58.93;MQ0=0;MQRankSum=1.427;QD=9.72;ReadPosRankSum=0.385;VQSLOD=6.3647;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,61:156:99:1546,0,2429 13 46708291 46708291 T C exonic LCP1 nonsynonymous SNV LCP1:NM_002298:exon14:c.A1597G:p.K533E 0.88 0.74 0.92 0.91 0.9 0.98 0.9058 0.7792 0.9587 0.9006 0.9339 0.8993 0.9086 0.9656 0.87 0.8 0.9 0.84 0.84 rs4941543 COSM3999101 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.104 0.299 T 0.0 0.026 B 0.004 0.093 B 0.061 0.222 N 1 0.090 P -0.35 0.031 N -3.46 0.945 D 0.17 0.051 N 0.009 0.009 -0.864 0.510 T 0.000 0.000 T . . . -0.128 0.082 1.531 0.775 0.115 0.004 0.019 N c -1.417 -1.312 1.000 0.410 0.672 0.522 0 4.19 0.485 2.672 0.463 -0.977 0.023 0.016 0.191 0.360 0.248 13.234 0.592 Calponin homology domain . . 0.9110 0.7832 0.9543 0.8953 0.8997 0.9339 0.8985 0.9177 0.9663 0.8744 0.7880 0.9487 0.9205 0.9001 0.9327 0.9013 0.9033 hom 3227.04 106 13 46708291 . T C 3227.04 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.82;MQ0=0;QD=30.44;VQSLOD=8.5478;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3260,247,0 13 47127813 47127813 C T exonic LRCH1 synonymous SNV LRCH1:NM_001164211:exon1:c.C282T:p.H94H,LRCH1:NM_001164213:exon1:c.C282T:p.H94H,LRCH1:NM_015116:exon1:c.C282T:p.H94H 0.15 0.21 0.13 0.19 0.11 0.091 0.1443 0.2365 0.2184 0.1947 0.1109 0.1232 0.1077 0.1064 0.12 0.17 0.1 0.11 0.066 rs45540131 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1199 0.1887 0.1796 0.1300 0.1674 0.0692 0.1027 0.1169 0.0881 0.1311 0.1895 0.1766 0.1490 0.1728 0.0733 0.1038 0.1217 het 447.11 34 13 47127813 . C T 447.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.520;DP=34;Dels=0.00;FS=3.093;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;MQRankSum=0.902;QD=13.15;ReadPosRankSum=-0.867;VQSLOD=6.1956;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,19:34:99:477,0,375 13 47308109 47308109 A G exonic LRCH1 synonymous SNV LRCH1:NM_001164213:exon18:c.A1956G:p.A652A,LRCH1:NM_015116:exon18:c.A1956G:p.A652A,LRCH1:NM_001164211:exon19:c.A2061G:p.A687A 0.91 0.82 0.98 0.88 1. 0.93 0.9674 0.8466 0.9837 0.8951 0.9997 0.9965 0.9680 0.9393 0.95 0.85 1. 0.95 0.9 rs2298086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9704 0.8380 0.9843 0.9881 0.8929 1.0000 0.9971 0.9781 0.9382 0.9471 0.8399 0.9821 0.9834 0.9 1 0.9975 0.9796 hom 1851.63 64 13 47308109 . A G 1851.63 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.93;VQSLOD=12.7411;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1885,147,0 13 47469940 47469940 G A exonic HTR2A synonymous SNV HTR2A:NM_000621:exon2:c.C102T:p.S34S 0.44 0.39 0.35 0.59 0.44 0.42 0.4071 0.3714 0.3264 0.5827 0.3268 0.4095 0.4075 0.4170 0.4 0.38 0.41 0.45 0.41 rs6313 COSM3753711 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4070 0.3749 0.3295 0.5002 0.5918 0.3281 0.4110 0.4183 0.4145 0.3919 0.3854 0.3349 0.5199 0.6020 0.3304 0.3899 0.3612 het 1396.57 92 13 47469940 . G A 1396.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.786;DP=92;Dels=0.00;FS=3.991;HRun=0;HaplotypeScore=0.7887;MQ=59.48;MQ0=0;MQRankSum=0.000;QD=15.18;ReadPosRankSum=-0.978;VQSLOD=6.3070;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,49:92:99:1427,0,1153 13 48547467 48547467 A T exonic SUCLA2 nonsynonymous SNV SUCLA2:NM_003850:exon5:c.T595A:p.S199T 0.68 0.55 0.66 0.8 0.82 0.62 0.7515 0.5817 0.6240 0.7925 0.8008 0.8190 0.7037 0.6369 0.74 0.59 0.82 0.72 0.79 rs7320366 . . Benign|Benign not_specified|Mitochondrial_DNA_depletion_syndrome RCV000128327.3|RCV000300356.1 MedGen|MedGen CN169374|CN239350 . . . . . . 0.489 0.080 T 0.0 0.026 B 0.001 0.040 B 0.000 0.559 N 1.000 0.196 P -1.05 0.011 N -0.03 0.631 T -0.03 0.078 N 0.05 0.271 -0.928 0.445 T 0.000 0.000 T . . . 1.740 0.270 14.64 0.155 0.004 0.229 0.217 N c -0.801 -0.501 0.019 0.131 0.732 0.924 0 4.56 0.555 4.737 0.615 0.088 0.194 1.000 0.715 0.720 0.314 10.528 0.440 ATP-grasp fold\x2c subdomain 2|ATP-grasp fold\x2c succinyl-CoA synthetase-type;ATP-grasp fold|ATP-grasp fold\x2c subdomain 2|ATP-grasp fold\x2c succinyl-CoA synthetase-type ENSG00000136146.10|ENSG00000229111.1|ENSG00000136146.10|ENSG00000136146.10|ENSG00000136143.9|ENSG00000136143.9|ENSG00000136143.9|ENSG00000136146.10|ENSG00000229111.1|ENSG00000136143.9|ENSG00000136146.10|ENSG00000136143.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cortex|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7482 0.5805 0.6345 0.7777 0.7910 0.7939 0.8184 0.7579 0.6331 0.7450 0.5859 0.6372 0.8046 0.8207 0.8041 0.8185 0.7710 hom 2022.97 69 13 48547467 . A T 2022.97 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=58.39;MQ0=0;QD=29.32;VQSLOD=7.6719;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2056,168,0 13 49794650 49794650 C A exonic MLNR synonymous SNV MLNR:NM_001507:exon1:c.C177A:p.T59T 0.38 0.32 0.3 0.47 0.29 0.53 0.4240 0.3614 0.4253 0.5282 0.4120 0.3890 0.4529 0.5267 0.3 0.28 0.31 0.22 0.21 rs9568169 COSM3753714;COSM432466 2(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3441 0.2888 0.3218 0.3371 0.4632 0.2984 0.3067 0.3234 0.4924 0.3112 0.2884 0.3070 0.3311 0.4665 0.2944 0.3092 0.3461 het 610.52 44 13 49794650 . C A 610.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.339;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=60.00;MQ0=0;MQRankSum=0.705;QD=13.88;ReadPosRankSum=1.222;VQSLOD=6.4171;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,23:44:99:641,0,554 13 50050620 50050620 A G exonic SETDB2;SETDB2-PHF11 nonsynonymous SNV SETDB2:NM_001160308:exon6:c.A314G:p.E105G,SETDB2:NM_001320699:exon6:c.A314G:p.E105G,SETDB2-PHF11:NM_001320727:exon6:c.A314G:p.E105G,SETDB2:NM_031915:exon7:c.A350G:p.E117G 0.73 0.79 0.75 0.8 0.67 0.61 0.7096 0.7678 0.7697 0.8000 0.7268 0.6978 0.7169 0.6188 0.72 0.78 0.69 0.71 0.37 rs7998427 COSM5438230 1(oesophagus) . . . . . . . . . . . 0.291 0.149 T 0.0 0.154 B 0.002 0.176 B 0.553 0.054 N 1.000 0.182 P 0.63 0.160 N 1.14 0.384 T -1.03 0.270 N 0.073 0.065 -0.931 0.441 T 0.000 0.000 T . . . -0.147 0.080 1.406 0.865 0.161 0.855 0.443 D c -0.556 -0.460 0.001 0.076 0.638 0.428 0 3.52 0.393 3.319 0.514 0.237 0.263 0.933 0.321 0.721 0.314 8.591 0.327 . ENSG00000136169.12|ENSG00000136169.12|ENSG00000102547.14|ENSG00000136169.12|ENSG00000136147.12|ENSG00000136144.7|ENSG00000136169.12|ENSG00000136169.12 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas 0.7091 0.7614 0.7665 0.7118 0.7998 0.7390 0.6932 0.7129 0.5987 0.7218 0.7581 0.7315 0.7285 0.7907 0.7275 0.6925 0.7014 het 737.04 85 13 50050620 . A G 737.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.638;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3976;MQ=59.73;MQ0=0;MQRankSum=2.489;QD=8.67;ReadPosRankSum=0.125;VQSLOD=4.9961;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,29:85:99:767,0,1572 13 50057097 50057097 G A exonic SETDB2;SETDB2-PHF11 nonsynonymous SNV SETDB2:NM_001160308:exon9:c.G1381A:p.V461M,SETDB2:NM_001320699:exon9:c.G1381A:p.V461M,SETDB2-PHF11:NM_001320727:exon9:c.G1381A:p.V461M,SETDB2:NM_031915:exon10:c.G1417A:p.V473M 0.82 0.97 0.78 0.87 0.69 0.73 0.7572 0.9349 0.8143 0.8610 0.7622 0.7143 0.7539 0.7218 0.78 0.93 0.7 0.81 0.64 rs2057413 . . . . . . . . . . . . . 0.311 0.139 T 0.001 0.067 B 0.002 0.093 B 0.812 0.068 N 1 0.090 P -0.84 0.015 N 1.13 0.386 T -0.26 0.112 N 0.033 0.013 -0.957 0.397 T 0.000 0.000 T . . . 0.154 0.109 4.184 0.056 0.000 0.000 0.003 N c -1.200 -1.224 0.093 0.162 0.732 0.924 0 -0.814 0.102 -1.111 0.034 -0.109 0.115 0.000 0.063 0.002 0.062 5.811 0.176 SET domain ENSG00000136169.12|ENSG00000136169.12|ENSG00000102547.14|ENSG00000136144.7|ENSG00000136169.12|ENSG00000136147.12|ENSG00000136144.7|ENSG00000136169.12|ENSG00000136169.12|ENSG00000136169.12|ENSG00000136169.12|ENSG00000102547.14 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Thyroid|Whole_Blood 0.7548 0.9345 0.8050 0.7079 0.8581 0.7708 0.7091 0.7446 0.7212 0.7895 0.9293 0.7733 0.7219 0.8498 0.7639 0.7123 0.7505 het 645.67 39 13 50057097 . G A 645.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.670;DP=39;Dels=0.00;FS=1.639;HRun=0;HaplotypeScore=0.0000;MQ=57.78;MQ0=0;MQRankSum=-0.102;QD=16.56;ReadPosRankSum=-3.294;VQSLOD=2.7318;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,25:39:99:676,0,399 13 50057633 50057633 A G exonic SETDB2;SETDB2-PHF11 synonymous SNV SETDB2:NM_001160308:exon10:c.A1416G:p.Q472Q,SETDB2:NM_001320699:exon10:c.A1416G:p.Q472Q,SETDB2-PHF11:NM_001320727:exon10:c.A1416G:p.Q472Q,SETDB2:NM_031915:exon11:c.A1452G:p.Q484Q 0.47 0.5 0.5 0.48 0.52 0.35 0.5293 0.5292 0.4813 0.5119 0.5578 0.5768 0.5577 0.3754 0.54 0.52 0.54 0.45 0.25 rs11619265 COSM4147726 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5051 0.4858 0.4543 0.5102 0.4795 0.5462 0.5472 0.5177 0.3497 0.5307 0.4975 0.4806 0.51 0.4969 0.5464 0.5535 0.5301 het 667.67 38 13 50057633 . A G 667.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.674;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.87;MQ0=0;MQRankSum=0.805;QD=17.57;ReadPosRankSum=-0.740;VQSLOD=7.1395;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,27:38:99:698,0,207 13 50080847 50080847 A G exonic PHF11;SETDB2-PHF11 synonymous SNV PHF11:NM_001040443:exon2:c.A171G:p.L57L,PHF11:NM_001040444:exon2:c.A54G:p.L18L,SETDB2-PHF11:NM_001320727:exon12:c.A1653G:p.L551L 0.78 0.91 0.74 0.87 0.64 0.68 0.7052 0.8823 0.7886 0.8630 0.6715 0.6591 0.6947 0.6528 0.72 0.88 0.64 0.78 0.69 rs2031532 COSM5021799 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7029 0.8849 0.7769 0.6076 0.8603 0.6873 0.6573 0.6904 0.6531 0.7359 0.8761 0.7452 0.6033 0.8512 0.6781 0.6607 0.6824 het 1473.22 115 13 50080847 . A G 1473.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.826;DP=115;Dels=0.00;FS=0.718;HRun=0;HaplotypeScore=0.9332;MQ=58.89;MQ0=0;MQRankSum=-0.176;QD=12.81;ReadPosRankSum=-0.635;VQSLOD=6.4823;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,57:115:99:1503,0,1467 13 50118998 50118998 C T exonic RCBTB1 synonymous SNV RCBTB1:NM_018191:exon10:c.G1047A:p.E349E 0.0038 0.0076 . . 0.0089 . 0.0081 0.0017 0.0030 0 0.0103 0.0128 0.0055 0.0001 0.0095 0.0025 0.013 . 0.025 rs41284792 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0073 0.0015 0.0031 0.0002 0 0.0094 0.0127 0.0068 6.535e-05 0.0079 0.0016 0.0036 0 0 0.0115 0.0122 0.0061 het 649.35 49 13 50118998 . C T 649.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.263;DP=49;Dels=0.00;FS=4.181;HRun=1;HaplotypeScore=0.8667;MQ=58.85;MQ0=0;MQRankSum=0.273;QD=13.25;ReadPosRankSum=1.687;VQSLOD=5.4244;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,28:49:99:679,0,526 13 50123622 50123622 G C exonic RCBTB1 synonymous SNV RCBTB1:NM_018191:exon9:c.C1017G:p.P339P 0.48 0.26 0.64 0.51 0.64 0.43 0.5852 0.3168 0.6241 0.5328 0.5632 0.6587 0.5942 0.4640 0.55 0.32 0.68 0.4 0.62 rs3751384 COSM3753717 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5968 0.3134 0.6327 0.6565 0.5359 0.5775 0.6689 0.6190 0.4630 0.5482 0.3258 0.6256 0.6490 0.5322 0.5809 0.6635 0.5736 hom 1892.65 58 13 50123622 . G C 1892.65 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8658;MQ=58.92;MQ0=0;QD=32.63;VQSLOD=8.7837;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1926,156,0 13 50126382 50126382 G A exonic RCBTB1 synonymous SNV RCBTB1:NM_018191:exon7:c.C643T:p.L215L 0.86 0.89 0.87 0.89 0.82 0.81 0.8542 0.8967 0.9214 0.8936 0.8116 0.8424 0.8315 0.8232 0.86 0.9 0.83 0.87 0.7 rs2274278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8468 0.8930 0.9042 0.8145 0.8914 0.8091 0.8351 0.8290 0.8169 0.8520 0.8852 0.8890 0.8079 0.8970 0.8072 0.8387 0.8255 hom 991.05 33 13 50126382 . G A 991.05 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.03;VQSLOD=13.6328;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:78.25:1024,78,0 13 50141345 50141345 G A exonic RCBTB1 nonsynonymous SNV RCBTB1:NM_018191:exon3:c.C71T:p.A24V 0.53 0.32 0.73 0.61 0.66 0.44 0.6165 0.3730 0.7275 0.6354 0.5713 0.6719 0.6131 0.4749 0.58 0.38 0.68 0.45 0.7 rs4942848 . . . . . . . . . . . . . 0.369 0.116 T 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 0.000 0.588 P 1.24 0.311 L 1.34 0.348 T -1.34 0.334 N 0.311 0.430 -0.927 0.446 T 0.000 0.000 T . . . 3.258 0.451 22.8 0.999 0.988 0.992 0.923 D c 0.599 0.653 1.000 0.747 0.732 0.924 0 5.84 0.934 9.484 0.969 0.993 0.603 1.000 0.715 1.000 0.888 20.147 0.981 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II ENSG00000123179.9|ENSG00000136144.7|ENSG00000136147.12|ENSG00000136144.7|ENSG00000136144.7|ENSG00000136147.12 Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.6300 0.3697 0.7300 0.6604 0.6362 0.5866 0.6814 0.6445 0.4787 0.5795 0.3774 0.7139 0.6589 0.6445 0.5916 0.6771 0.5918 hom 2592.38 83 13 50141345 . G A 2592.38 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6439;MQ=59.32;MQ0=0;QD=31.23;VQSLOD=8.8502;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2625,214,0 13 50205025 50205025 T C exonic ARL11 nonsynonymous SNV ARL11:NM_138450:exon2:c.T442C:p.C148R 0.25 0.067 0.4 0.19 0.5 0.22 0.3907 0.1338 0.3398 0.1820 0.3962 0.4963 0.4078 0.2530 0.39 0.15 0.51 0.23 0.39 rs3803185 COSM5038192 1(skin) . . . . . . . . . . . 0.326 0.133 T 0.001 0.067 B 0.003 0.080 B 0.498 0.120 N 1.000 0.090 P -0.345 0.033 N -1.48 0.812 T 0.35 0.038 N 0.023 0.006 -1.040 0.171 T 0.000 0.000 T . . . -2.636 0.003 0.001 0.288 0.015 0.015 0.049 N c -1.910 -1.998 1.000 0.747 0.563 0.310 0 -10.8 0.002 -2.050 0.015 -0.347 0.071 0.000 0.063 0.024 0.140 5.602 0.165 P-loop containing nucleoside triphosphate hydrolase ENSG00000136144.7|ENSG00000136147.12|ENSG00000136144.7|ENSG00000136144.7 Cells_Transformed_fibroblasts|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.3921 0.1288 0.3514 0.4279 0.1814 0.4066 0.5072 0.4236 0.2467 0.3684 0.1411 0.3541 0.4404 0.1829 0.4089 0.5090 0.4014 het 518.61 50 13 50205025 . T C 518.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.231;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-0.381;QD=10.37;ReadPosRankSum=0.713;VQSLOD=6.3397;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,22:50:99:549,0,805 13 50296115 50296115 C T exonic KPNA3 synonymous SNV KPNA3:NM_002267:exon9:c.G702A:p.P234P 0.88 0.75 0.88 1. 0.86 0.93 0.8780 0.7784 0.9305 0.9980 0.8414 0.8622 0.8687 0.9209 0.84 0.77 0.87 0.9 0.93 rs1127021 COSM4147730 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8807 0.7746 0.9207 0.8144 0.9980 0.8492 0.8678 0.8706 0.9194 0.8452 0.7825 0.8950 0.7947 0.9988 0.8373 0.8644 0.8554 het 1329.11 138 13 50296115 . C T 1329.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.223;DP=138;Dels=0.00;FS=6.883;HRun=0;HaplotypeScore=2.6374;MQ=59.03;MQ0=0;MQRankSum=0.613;QD=9.63;ReadPosRankSum=-1.314;VQSLOD=4.3800;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,57:138:99:1359,0,2076 13 52440130 52440130 A G exonic CCDC70 nonsynonymous SNV CCDC70:NM_031290:exon2:c.A616G:p.I206V,CCDC70:NM_001346075:exon3:c.A616G:p.I206V 0.36 0.28 0.46 0.41 0.34 0.33 0.3694 0.2856 0.5349 0.4488 0.3433 0.3469 0.3560 0.3659 0.32 0.29 0.34 0.36 0.24 rs1054515 COSM5425352 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.696 0.042 T 0.0 0.026 B 0.001 0.040 B 0.097 0.025 N 1 0.090 P -0.035 0.050 N 2.86 0.105 T -0.12 0.088 N 0.016 0.003 -0.939 0.428 T 0.000 0.000 T . . . -3.288 0.001 0.001 0.482 0.040 0.026 0.072 N c -1.862 -1.951 1.000 0.747 0.520 0.210 0 -10.1 0.003 -0.934 0.040 -0.797 0.032 0.000 0.063 0.000 0.016 5.529 0.161 . ENSG00000136100.8 Cells_Transformed_fibroblasts 0.3737 0.2864 0.5224 0.3499 0.4436 0.3479 0.3412 0.3680 0.3612 0.3311 0.2799 0.4869 0.3245 0.4306 0.3422 0.3384 0.3405 het 1221.38 87 13 52440130 . A G 1221.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.715;DP=87;Dels=0.00;FS=0.853;HRun=0;HaplotypeScore=1.8519;MQ=59.57;MQ0=0;MQRankSum=0.752;QD=14.04;ReadPosRankSum=-1.065;VQSLOD=6.5835;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,48:87:99:1251,0,884 13 52515354 52515354 A G exonic ATP7B nonsynonymous SNV ATP7B:NM_001005918:exon12:c.T2798C:p.V933A,ATP7B:NM_001330579:exon14:c.T3167C:p.V1056A,ATP7B:NM_001330578:exon15:c.T3185C:p.V1062A,ATP7B:NM_000053:exon16:c.T3419C:p.V1140A,ATP7B:NM_001243182:exon17:c.T3086C:p.V1029A 0.54 0.57 0.59 0.4 0.6 0.54 0.5653 0.5489 0.6418 0.3938 0.6129 0.5811 0.5944 0.5260 0.58 0.55 0.59 0.49 0.66 rs1801249 COSM3765712 2(pancreas);1(liver) Benign|other Wilson_disease|not_specified RCV000029369.2|RCV000078051.9 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0019202:277900:ORPHA905:88518009|CN169374 . . . . . . 0.914 0.026 T 0.0 0.067 B 0.0 0.220 B 0.057 0.225 N 1 0.090 P 0.155 0.089 N -3.86 0.971 D 0.92 0.017 N 0.008 0.005 -0.954 0.402 T 0.000 0.000 T . . . -0.774 0.041 0.049 0.239 0.010 0.005 0.022 N c -1.285 -1.230 0.096 0.163 0.657 0.484 0 0.087 0.137 0.031 0.135 -0.304 0.080 0.000 0.063 0.314 0.240 1.657 0.026 HAD-like domain;P-type ATPase\x2c A domain ENSG00000253710.1|ENSG00000136098.12|ENSG00000136108.10|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000253710.1|ENSG00000136100.8|ENSG00000253710.1|ENSG00000253710.1|ENSG00000253710.1|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000253710.1|ENSG00000253710.1|ENSG00000197168.7|ENSG00000136098.12|ENSG00000253710.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid 0.5692 0.5487 0.6374 0.5741 0.3973 0.6096 0.5822 0.5863 0.5203 0.5733 0.5601 0.6340 0.5795 0.3925 0.6140 0.5859 0.5965 het 1780.49 139 13 52515354 . A G 1780.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.843;DP=139;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=5.8319;MQ=59.24;MQ0=0;MQRankSum=-1.359;QD=12.81;ReadPosRankSum=-0.609;VQSLOD=4.5845;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,68:139:99:1810,0,1858 13 52523808 52523808 C T exonic ATP7B nonsynonymous SNV ATP7B:NM_001330579:exon10:c.G2603A:p.R868K,ATP7B:NM_001330578:exon11:c.G2621A:p.R874K,ATP7B:NM_000053:exon12:c.G2855A:p.R952K,ATP7B:NM_001243182:exon13:c.G2522A:p.R841K 0.53 0.54 0.58 0.4 0.6 0.54 0.5627 0.5191 0.6405 0.3935 0.6110 0.5812 0.5904 0.5267 0.57 0.52 0.59 0.46 0.64 rs732774 COSM147691 1(stomach);1(liver);1(prostate);1(large_intestine) Benign|other Wilson_disease|not_specified RCV000029357.2|RCV000078044.9 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0019202:277900:ORPHA905:88518009|CN169374 . . . . . . 1.0 0.010 T 0.0 0.198 B 0.0 0.205 B 0.000 0.843 N 1.000 0.810 P -0.405 0.030 N -3.79 0.969 D 1.18 0.011 N 0.214 0.263 -0.965 0.383 T 0.000 0.000 T . . . 2.122 0.316 17.00 0.775 0.115 0.318 0.242 N c -0.710 -0.397 1.000 0.747 0.638 0.428 0 6.06 0.983 2.245 0.425 0.154 0.240 0.923 0.318 0.970 0.461 12.356 0.543 HAD-like domain;P-type ATPase\x2c A domain ENSG00000253710.1|ENSG00000136098.12|ENSG00000136108.10|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000253710.1|ENSG00000136100.8|ENSG00000253710.1|ENSG00000253710.1|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000253710.1|ENSG00000253710.1|ENSG00000197168.7|ENSG00000136098.12|ENSG00000253710.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid 0.5668 0.5193 0.6358 0.5741 0.3966 0.6080 0.5820 0.5840 0.5209 0.5645 0.5304 0.6313 0.5828 0.3902 0.6128 0.5855 0.5980 het 1288.07 110 13 52523808 . C T 1288.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.499;DP=110;Dels=0.00;FS=3.637;HRun=1;HaplotypeScore=5.8139;MQ=59.43;MQ0=0;MQRankSum=-0.441;QD=11.71;ReadPosRankSum=-0.199;VQSLOD=4.9053;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,47:110:99:1318,0,1796 13 52524488 52524488 T C exonic ATP7B nonsynonymous SNV ATP7B:NM_001005918:exon7:c.A2009G:p.K670R,ATP7B:NM_001330579:exon8:c.A2243G:p.K748R,ATP7B:NM_001330578:exon9:c.A2261G:p.K754R,ATP7B:NM_000053:exon10:c.A2495G:p.K832R,ATP7B:NM_001243182:exon11:c.A2162G:p.K721R 0.5 0.5 0.48 0.4 0.6 0.54 0.5384 0.4827 0.4838 0.3936 0.6086 0.5733 0.5746 0.5144 0.55 0.48 0.59 0.42 0.66 rs1061472 COSM3753723 1(pancreas);1(liver);2(large_intestine) Benign|Benign Wilson_disease|not_specified RCV000029356.2|RCV000078043.8 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0019202:277900:ORPHA905:88518009|CN169374 . . . . . . 0.087 0.363 T 0.111 0.524 B 0.024 0.558 B 0.000 0.843 D 1.949e-05 0.810 P 0.41 0.124 N -2.64 0.902 D -1.97 0.456 N 0.414 0.586 -0.931 0.440 T 0.000 0.000 T . . . 2.981 0.419 22.2 0.998 0.868 0.957 0.656 D c 0.162 0.325 1.000 0.747 0.549 0.223 0 5.54 0.828 6.189 0.718 1.061 0.807 1.000 0.715 1.000 0.888 15.657 0.768 P-type ATPase\x2c A domain ENSG00000253710.1|ENSG00000136098.12|ENSG00000136108.10|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000253710.1|ENSG00000136100.8|ENSG00000253710.1|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000253710.1|ENSG00000253710.1|ENSG00000197168.7|ENSG00000136098.12|ENSG00000253710.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid 0.5390 0.4847 0.491 0.5691 0.3964 0.6063 0.5738 0.5634 0.5092 0.5472 0.4975 0.4988 0.5795 0.3883 0.6105 0.5787 0.5757 het 1314.62 115 13 52524488 . T C 1314.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.859;DP=115;Dels=0.00;FS=8.894;HRun=2;HaplotypeScore=4.9270;MQ=58.98;MQ0=0;MQRankSum=0.757;QD=11.43;ReadPosRankSum=-0.168;VQSLOD=4.7752;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,51:115:99:1345,0,1785 13 52542680 52542680 A G exonic ATP7B nonsynonymous SNV ATP7B:NM_000053:exon4:c.T1607C:p.V536A,ATP7B:NM_001005918:exon4:c.T1607C:p.V536A,ATP7B:NM_001330578:exon4:c.T1607C:p.V536A,ATP7B:NM_001330579:exon4:c.T1607C:p.V536A,ATP7B:NM_001243182:exon5:c.T1274C:p.V425A 0.0016 . . . 0.008 . 0.0030 0.0009 0.0011 0 0.0129 0.0037 0.0022 0.0004 0.0022 0.0005 0.0031 . . rs138427376 . . Uncertain significance|Benign Wilson_disease|not_specified RCV000029352.4|RCV000374856.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0019202:277900:ORPHA905:88518009|CN169374 . . . . . . 0.118 0.377 T 0.0 0.272 B 0.001 0.295 B 0.767 0.066 N 0.989 0.312 N 0.9 0.233 L -1.96 0.851 D -1.57 0.471 N 0.319 0.666 -0.436 0.709 T 0.341 0.707 T . . . 0.760 0.166 9.214 0.853 0.153 0.348 0.249 N c -0.569 -0.515 0.992 0.328 0.615 0.352 0 1.67 0.230 1.252 0.323 1.199 0.960 0.414 0.261 0.039 0.156 6.637 0.219 Heavy metal-associated domain\x2c HMA;Heavy metal-associated domain\x2c HMA|Heavy metal-associated domain\x2c copper ion-binding . . 0.0033 0.0007 0.0008 0.0001 0 0.0113 0.0043 0.0046 0.0002 0.0045 0.0007 0.0024 0 0 0.0126 0.0053 0.0061 het 1352.40 109 13 52542680 . A G 1352.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.159;DP=109;Dels=0.00;FS=1.559;HRun=1;HaplotypeScore=6.4142;MQ=59.58;MQ0=0;MQRankSum=0.364;QD=12.41;ReadPosRankSum=0.006;VQSLOD=3.2632;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:60,49:109:99:1382,0,1519 13 52544805 52544805 C G exonic ATP7B nonsynonymous SNV ATP7B:NM_000053:exon3:c.G1366C:p.V456L,ATP7B:NM_001005918:exon3:c.G1366C:p.V456L,ATP7B:NM_001330578:exon3:c.G1366C:p.V456L,ATP7B:NM_001330579:exon3:c.G1366C:p.V456L,ATP7B:NM_001243182:exon4:c.G1033C:p.V345L 0.38 0.19 0.39 0.48 0.53 0.36 0.4346 0.2272 0.3833 0.4835 0.5375 0.4786 0.4811 0.3467 0.41 0.22 0.49 0.34 0.52 rs1801244 COSM3753724 1(liver);1(large_intestine) other|Benign Wilson_disease|not_specified RCV000029351.2|RCV000078039.8 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0019202:277900:ORPHA905:88518009|CN169374 . . . . . . 0.599 0.085 T 0.009 0.201 B 0.02 0.223 B 0.761 0.096 N 1 0.090 P 0.695 0.181 N -3.8 0.961 D -0.18 0.138 N 0.059 0.086 -1.006 0.283 T 0.000 0.000 T . . . 0.761 0.167 9.223 0.868 0.162 0.039 0.091 N c -1.015 -0.998 1.000 0.473 0.638 0.428 0 -0.181 0.126 -0.911 0.041 0.935 0.490 0.000 0.063 0.954 0.431 2.164 0.036 . ENSG00000253710.1|ENSG00000136098.12|ENSG00000136108.10|ENSG00000136098.12|ENSG00000136098.12|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136098.12|ENSG00000136108.10|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000123191.9|ENSG00000136100.8|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136098.12|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136108.10|ENSG00000136098.12|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000253710.1|ENSG00000197168.7|ENSG00000136098.12|ENSG00000123191.9|ENSG00000253710.1|ENSG00000136108.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid 0.4395 0.2259 0.3867 0.4356 0.4813 0.5372 0.4831 0.4717 0.3466 0.4190 0.2383 0.3986 0.4470 0.4716 0.5332 0.4891 0.4704 het 1442.40 136 13 52544805 . C G 1442.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.847;DP=136;DS;Dels=0.00;FS=1.741;HRun=0;HaplotypeScore=1.5592;MQ=59.56;MQ0=0;MQRankSum=-1.423;QD=10.61;ReadPosRankSum=-1.263;VQSLOD=5.8572;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,53:136:99:1472,0,2419 13 52548140 52548140 A C exonic ATP7B nonsynonymous SNV ATP7B:NM_000053:exon2:c.T1216G:p.S406A,ATP7B:NM_001005918:exon2:c.T1216G:p.S406A,ATP7B:NM_001330578:exon2:c.T1216G:p.S406A,ATP7B:NM_001330579:exon2:c.T1216G:p.S406A,ATP7B:NM_001243182:exon3:c.T883G:p.S295A 0.38 0.14 0.39 0.54 0.52 0.37 0.4388 0.1854 0.3822 0.5337 0.5446 0.4841 0.4911 0.3514 0.4 0.19 0.5 0.29 0.51 rs1801243 COSM3753725 1(large_intestine) other|Benign Wilson_disease|not_specified RCV000029350.2|RCV000078038.8 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0019202:277900:ORPHA905:88518009|CN169374 . . . . . . 0.753 0.114 T 0.003 0.248 B 0.017 0.271 B 0.666 0.104 N 1 0.090 P 0.695 0.181 N -2.09 0.861 D -0.2 0.191 N 0.047 0.036 -0.999 0.302 T 0.000 0.000 T . . . -0.551 0.053 0.164 0.984 0.410 0.077 0.135 N c -1.023 -1.003 1.000 0.405 0.638 0.428 0 -0.027 0.132 -1.552 0.023 1.199 0.960 0.000 0.063 0.946 0.421 4.421 0.108 Heavy metal-associated domain\x2c HMA|Heavy metal-associated domain\x2c copper ion-binding ENSG00000253710.1|ENSG00000136098.12|ENSG00000136108.10|ENSG00000136098.12|ENSG00000136098.12|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136098.12|ENSG00000136108.10|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136100.8|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136108.10|ENSG00000136098.12|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000197168.7|ENSG00000136098.12|ENSG00000123191.9|ENSG00000253710.1|ENSG00000136108.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid 0.4443 0.1838 0.3857 0.4397 0.5310 0.5448 0.4890 0.4690 0.3514 0.4155 0.1954 0.4069 0.4901 0.5285 0.5421 0.4971 0.4744 het 2223.39 154 13 52548140 . A C 2223.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.745;DP=154;DS;Dels=0.00;FS=7.183;HRun=0;HaplotypeScore=3.4832;MQ=59.34;MQ0=0;MQRankSum=-1.386;QD=14.44;ReadPosRankSum=1.516;VQSLOD=4.0861;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,81:154:99:2253,0,2124 13 52603194 52603194 G T exonic UTP14C nonsynonymous SNV UTP14C:NM_021645:exon2:c.G254T:p.G85V 0.58 0.46 0.66 0.6 0.72 0.53 0.6478 0.4827 0.6716 0.5918 0.7084 0.6962 0.6773 0.5432 0.63 0.49 0.71 0.53 0.72 rs3742289 COSM3753726 1(large_intestine) Benign Congenital_disorder_of_glycosylation RCV000389852.1 MedGen:Orphanet:SNOMED_CT C0282577:ORPHA137:238049009 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.321 0.143 N 0.000 0.588 P -2.11 0.002 N 2.32 0.166 T 1.25 0.010 N 0.071 0.124 -1.048 0.148 T 0.000 0.000 T . . . 0.571 0.149 7.953 0.794 0.123 0.027 0.073 N c -1.195 -1.059 0.112 0.167 0.707 0.730 0 0.050 0.135 -0.012 0.125 -0.191 0.103 0.105 0.227 0.990 0.544 3.868 0.085 . ENSG00000253710.1|ENSG00000136098.12|ENSG00000136108.10|ENSG00000136098.12|ENSG00000253710.1|ENSG00000253710.1|ENSG00000136098.12|ENSG00000123191.9|ENSG00000136108.10|ENSG00000253710.1|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000253710.1|ENSG00000253710.1|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000253710.1|ENSG00000253710.1|ENSG00000136098.12|ENSG00000253710.1|ENSG00000136108.10|ENSG00000253710.1|ENSG00000253710.1|ENSG00000123191.9|ENSG00000253710.1|ENSG00000253710.1|ENSG00000123191.9|ENSG00000253710.1|ENSG00000197168.7|ENSG00000136098.12|ENSG00000136108.10|ENSG00000253710.1|ENSG00000123191.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid 0.6528 0.4784 0.6731 0.6330 0.5893 0.7043 0.7008 0.6792 0.5428 0.6346 0.4880 0.7014 0.6788 0.5944 0.7070 0.6998 0.6800 hom 6858.10 222 13 52603194 . G T 6858.10 Mask AC=2;AF=1.00;AN=2;DP=222;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4875;MQ=59.75;MQ0=0;QD=30.89;VQSLOD=8.7837;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,221:222:99:6857,563,0 13 52603241 52603241 A G exonic UTP14C nonsynonymous SNV UTP14C:NM_021645:exon2:c.A301G:p.T101A 0.08 0.043 0.12 0.055 0.12 0.084 0.1120 0.0657 0.1154 0.0679 0.1161 0.1298 0.1189 0.0878 0.1 0.063 0.12 0.054 0.11 rs3742290 COSM147692 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) Likely benign Congenital_disorder_of_glycosylation RCV000295578.1 MedGen:Orphanet:SNOMED_CT C0282577:ORPHA137:238049009 . . . . . . 0.789 0.032 T 0.004 0.112 B 0.015 0.162 B 0.910 0.086 N 1 0.090 P -0.02 0.051 N 2.38 0.158 T -0.5 0.158 N 0.01 0.016 -0.942 0.424 T 0.000 0.000 T . . . -0.749 0.043 0.056 0.818 0.134 0.059 0.117 N c -1.242 -1.218 0.111 0.167 0.707 0.730 0 0.149 0.141 -0.590 0.058 0.788 0.318 0.000 0.063 0.524 0.275 5.636 0.167 . ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.1116 0.0633 0.1178 0.1169 0.0699 0.1127 0.1281 0.1240 0.0874 0.1023 0.0578 0.1265 0.1325 0.0722 0.1256 0.1228 0.1217 het 2049.64 168 13 52603241 . A G 2049.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.260;DP=168;DS;Dels=0.00;FS=3.669;HRun=0;HaplotypeScore=5.3561;MQ=59.78;MQ0=0;MQRankSum=2.479;QD=12.20;ReadPosRankSum=1.369;VQSLOD=3.8660;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,76:168:99:2080,0,2388 13 52603775 52603775 C T exonic UTP14C synonymous SNV UTP14C:NM_021645:exon2:c.C835T:p.L279L 0.51 0.2 0.64 0.6 0.72 0.53 0.6288 0.2773 0.6618 0.5911 0.7082 0.6954 0.6663 0.5431 0.56 0.29 0.71 0.45 0.68 rs3742291 COSM3753727 1(large_intestine) Benign Congenital_disorder_of_glycosylation RCV000282584.1 MedGen:Orphanet:SNOMED_CT C0282577:ORPHA137:238049009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6377 0.2719 0.6623 0.6310 0.5894 0.7044 0.7000 0.6688 0.5423 0.5779 0.2897 0.6878 0.68 0.5932 0.7072 0.6991 0.6724 hom 5546.85 176 13 52603775 . C T 5546.85 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4947;MQ=59.38;MQ0=0;QD=31.52;VQSLOD=6.0047;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,175:176:99:5546,442,0 13 52676275 52676275 T G exonic NEK5 nonsynonymous SNV NEK5:NM_199289:exon10:c.A763C:p.K255Q 0.072 0.02 0.12 0.055 0.12 0.083 0.1068 0.0401 0.1114 0.0675 0.1146 0.1249 0.1101 0.0896 0.089 0.04 0.11 0.011 0.11 rs34756139 COSM147693;COSM3753728 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.048 0.400 D 0.995 0.657 D 0.92 0.638 D 0.000 0.559 D 0.235 0.341 P -0.37 0.031 N -0.19 0.659 T -2.18 0.491 N 0.257 0.313 -1.010 0.270 T 0.004 0.011 T . . . 3.736 0.506 23.3 0.977 0.347 0.988 0.868 D c -0.002 0.010 0.658 0.222 0.487 0.133 0 4.81 0.613 2.308 0.431 1.061 0.807 1.000 0.715 1.000 0.888 11.992 0.523 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000232872.2|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000136108.10|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9|ENSG00000123191.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.1070 0.0385 0.1137 0.1108 0.0694 0.1111 0.1234 0.1171 0.0890 0.0930 0.0348 0.1193 0.1159 0.0723 0.1242 0.1183 0.1173 het 2703.35 198 13 52676275 . T G 2703.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.006;DP=198;Dels=0.00;FS=1.969;HRun=0;HaplotypeScore=8.5143;MQ=59.27;MQ0=0;MQRankSum=0.412;QD=13.65;ReadPosRankSum=1.496;VQSLOD=4.1720;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,97:198:99:2733,0,2636 13 52971893 52971893 G A exonic THSD1 synonymous SNV THSD1:NM_018676:exon3:c.C495T:p.I165I,THSD1:NM_199263:exon3:c.C495T:p.I165I 0.59 0.48 0.64 0.65 0.69 0.54 0.6380 0.4658 0.6703 0.6654 0.7195 0.6673 0.6817 0.5561 0.6 0.47 0.67 0.59 0.75 rs3803264 COSM1747483 2(urinary_tract);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6442 0.4663 0.6633 0.7120 0.6630 0.7183 0.6617 0.6760 0.5563 0.6105 0.4696 0.6695 0.6954 0.6420 0.7101 0.6569 0.6701 hom 5556.98 166 13 52971893 . G A 5556.98 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=59.36;MQ0=0;QD=33.48;VQSLOD=9.6112;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5556,442,0 13 53035783 53035783 T C exonic CKAP2 synonymous SNV CKAP2:NM_001098525:exon4:c.T825C:p.T275T,CKAP2:NM_001286686:exon4:c.T678C:p.T226T,CKAP2:NM_001286687:exon4:c.T822C:p.T274T,CKAP2:NM_018204:exon4:c.T822C:p.T274T 1. 0.99 1. 1. 1. 1. 0.9992 0.9909 0.9996 1 1 1.0000 1 1 1. 0.99 1. 1. 1. rs7337054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 0.9909 0.9997 1 1 1 1.0000 0.9993 1 0.9973 0.9906 0.9988 1 1 1 1 1 hom 3008.53 96 13 53035783 . T C 3008.53 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;QD=31.34;VQSLOD=8.9732;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3042,232,0 13 53035925 53035925 A G exonic CKAP2 nonsynonymous SNV CKAP2:NM_001098525:exon4:c.A967G:p.I323V,CKAP2:NM_001286686:exon4:c.A820G:p.I274V,CKAP2:NM_001286687:exon4:c.A964G:p.I322V,CKAP2:NM_018204:exon4:c.A964G:p.I322V 1. 1. 1. 1. 1. 1. 0.9998 0.9975 0.9999 1 1 1 1 1 1. 1. 1. 1. 1. rs7335867 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.751 0.065 N 1 0.090 P -2.015 0.002 N 2.15 0.193 T 0.53 0.030 N 0.001 0.000 -1.002 0.294 T 0.000 0.000 T . . . -2.677 0.002 0.001 0.208 0.008 0.005 0.025 N c -1.674 -1.585 1.000 0.422 0.722 0.854 0 -1.67 0.078 -0.133 0.103 -0.326 0.075 0.000 0.063 0.002 0.062 7.368 0.258 . . . 0.9998 0.9974 0.9999 1 1 1 1.0000 1 1 0.9994 0.9978 1 1 1 1 1 1 hom 4437.55 147 13 53035925 . A G 4437.55 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6766;MQ=58.22;MQ0=0;QD=30.19;VQSLOD=8.2653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4437,334,0 13 60240961 60240961 C T exonic DIAPH3 synonymous SNV DIAPH3:NM_001258367:exon26:c.G3201A:p.L1067L,DIAPH3:NM_001258368:exon26:c.G3129A:p.L1043L,DIAPH3:NM_001258366:exon27:c.G3306A:p.L1102L,DIAPH3:NM_001042517:exon28:c.G3339A:p.L1113L 0.15 0.024 0.21 0.11 0.26 0.19 0.2041 0.0528 0.1515 0.0813 0.1791 0.2594 0.1933 0.1822 0.2 0.064 0.27 0.12 0.38 rs9538494 COSM3765714 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2031 0.0499 0.1619 0.2199 0.0877 0.1771 0.2627 0.2171 0.1839 0.1753 0.0549 0.1926 0.1887 0.0748 0.1797 0.2515 0.2149 het 1208.26 105 13 60240961 . C T 1208.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.370;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7052;MQ=59.19;MQ0=0;MQRankSum=-0.448;QD=11.51;ReadPosRankSum=-1.640;VQSLOD=4.5155;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,47:105:99:1238,0,1770 13 61102576 61102578 ATA - exonic TDRD3 nonframeshift deletion TDRD3:NM_001146070:exon11:c.1217_1219del:p.N408del,TDRD3:NM_001146071:exon11:c.938_940del:p.N315del,TDRD3:NM_030794:exon11:c.938_940del:p.N315del 0.12 0.033 0.12 0.013 0.19 0.28 0.1837 0.0504 0.1339 0.0139 0.2325 0.2041 0.1887 0.2892 0.14 0.052 0.19 0.011 . rs75684327 COSM5713242;COSM5713241 1(large_intestine);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1795 0.0502 0.1386 0.1640 0.0145 0.2294 0.1983 0.1592 0.2856 0.1545 0.0522 0.1447 0.18 0.0185 0.2235 0.2090 0.2137 het 4046.26 177 13 61102575 . GATA G 4046.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.722;DP=177;FS=1.251;HRun=0;HaplotypeScore=698.3568;MQ=57.76;MQ0=0;MQRankSum=2.413;QD=22.86;ReadPosRankSum=0.582;set=variant2 GT:AD:DP:GQ:PL 0/1:81,96:177:99:4046,0,3787 13 61986918 61986918 C A exonic PCDH20 synonymous SNV PCDH20:NM_022843:exon2:c.G1314T:p.V438V 0.8 0.74 0.83 0.92 0.69 0.86 0.7490 0.7277 0.8105 0.9280 0.7390 0.7012 0.7533 0.8228 0.72 0.74 0.71 0.78 0.7 rs3812872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7513 0.7252 0.7986 0.7031 0.9276 0.7362 0.7027 0.7244 0.8209 0.7285 0.7309 0.7883 0.7517 0.9239 0.7344 0.7019 0.7117 hom 4600.29 142 13 61986918 . C A 4600.29 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=59.37;MQ0=0;QD=32.40;VQSLOD=8.7799;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4600,361,0 13 61989175 61989175 G T exonic PCDH20 nonsynonymous SNV PCDH20:NM_022843:exon1:c.C117A:p.S39R 0.12 0.052 0.14 0.19 0.039 0.24 0.1241 0.0763 0.1765 0.2320 0.0449 0.0705 0.1548 0.2875 0.049 0.05 0.048 0.087 0.041 rs3812874 . . . . . . . . . . . . . 0.008 0.586 D 0.01 0.144 B 0.021 0.181 B 0.061 0.222 N 0.891 0.279 P 1.5 0.380 L 0.49 0.558 T 0.01 0.069 N 0.29 0.349 -1.080 0.073 T 0.000 0.001 T . . . 2.128 0.317 17.04 0.995 0.658 0.501 0.283 D c -0.278 -0.102 1.000 0.489 0.447 0.083 0 4.02 0.458 1.269 0.325 1.038 0.658 0.973 0.343 0.942 0.416 5.991 0.186 . . . 0.0855 0.0561 0.1321 0.0416 0.2025 0.0251 0.0490 0.0778 0.1931 0.0530 0.0541 0.1193 0.0298 0.1743 0.0212 0.0427 0.0631 het 443.68 33 13 61989175 . G T 443.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.269;DP=33;Dels=0.00;FS=6.037;HRun=0;HaplotypeScore=2.7523;MQ=58.73;MQ0=0;MQRankSum=-0.345;QD=13.44;ReadPosRankSum=-0.422;VQSLOD=5.1888;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,20:33:99:474,0,276 13 67800419 67800419 C G exonic PCDH9 synonymous SNV PCDH9:NM_001318372:exon2:c.G2154C:p.V718V,PCDH9:NM_001318373:exon2:c.G2154C:p.V718V,PCDH9:NM_001318374:exon2:c.G2154C:p.V718V,PCDH9:NM_020403:exon2:c.G2154C:p.V718V,PCDH9:NM_203487:exon2:c.G2154C:p.V718V 0.023 0.0023 0.092 . 0.042 0.0072 0.0430 0.0084 0.1634 0 0.0305 0.0429 0.0275 0.0094 0.028 0.0082 0.039 0.022 0.049 rs41283952 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0465 0.0087 0.1584 0.0049 0 0.0324 0.0423 0.0401 0.0088 0.0331 0.0096 0.1456 0 0 0.0332 0.0443 0.0387 het 2359.56 182 13 67800419 . C G 2359.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.182;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1472;MQ=59.08;MQ0=0;MQRankSum=-0.396;QD=12.96;ReadPosRankSum=1.223;VQSLOD=4.1425;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,94:182:99:2390,0,2361 13 67801532 67801532 A G exonic PCDH9 synonymous SNV PCDH9:NM_001318372:exon2:c.T1041C:p.N347N,PCDH9:NM_001318373:exon2:c.T1041C:p.N347N,PCDH9:NM_001318374:exon2:c.T1041C:p.N347N,PCDH9:NM_020403:exon2:c.T1041C:p.N347N,PCDH9:NM_203487:exon2:c.T1041C:p.N347N 0.0096 0.0015 0.011 . 0.032 0.0061 0.0187 0.0048 0.0069 0 0.0195 0.0279 0.0154 0.0084 0.019 0.0039 0.027 0.011 0.025 rs45527937 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0175 0.0052 0.0073 0.0034 0 0.0194 0.0287 0.0146 0.0078 0.0192 0.0057 0.0060 0 0 0.0203 0.0300 0.0204 het 3163.72 232 13 67801532 . A G 3163.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.499;DP=232;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5446;MQ=59.56;MQ0=0;MQRankSum=-0.764;QD=13.64;ReadPosRankSum=-0.872;VQSLOD=5.1541;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,120:232:99:3194,0,3061 13 67802339 67802339 A T exonic PCDH9 synonymous SNV PCDH9:NM_001318372:exon2:c.T234A:p.V78V,PCDH9:NM_001318373:exon2:c.T234A:p.V78V,PCDH9:NM_001318374:exon2:c.T234A:p.V78V,PCDH9:NM_020403:exon2:c.T234A:p.V78V,PCDH9:NM_203487:exon2:c.T234A:p.V78V 0.7 0.56 0.75 0.68 0.79 0.77 0.7546 0.5685 0.7085 0.7060 0.6932 0.7984 0.7677 0.7773 0.72 0.56 0.8 0.64 0.8 rs8000556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7573 0.5650 0.7219 0.8845 0.7102 0.6928 0.7961 0.7780 0.7806 0.7094 0.5755 0.7279 0.8907 0.7358 0.6922 0.7811 0.75 het 941.94 58 13 67802339 . A T 941.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.229;DP=58;Dels=0.00;FS=1.098;HRun=0;HaplotypeScore=1.9849;MQ=59.20;MQ0=0;MQRankSum=0.371;QD=16.24;ReadPosRankSum=1.208;VQSLOD=5.5507;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,34:58:99:972,0,645 13 73343039 73343039 C T exonic DIS3 synonymous SNV DIS3:NM_001322348:exon13:c.G1398A:p.T466T,DIS3:NM_001128226:exon14:c.G1677A:p.T559T,DIS3:NM_014953:exon14:c.G1767A:p.T589T,DIS3:NM_001322349:exon15:c.G1281A:p.T427T 0.77 0.82 0.76 0.75 0.69 0.82 0.7373 0.8141 0.8069 0.7538 0.6785 0.7013 0.7627 0.7990 0.75 0.82 0.71 0.84 0.7 rs2196979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7378 0.8177 0.8131 0.7283 0.7420 0.6759 0.7006 0.7302 0.8006 0.7393 0.8187 0.8098 0.7384 0.7503 0.6790 0.7044 0.7026 hom 2518.92 87 13 73343039 . C T 2518.92 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.50;MQ0=0;QD=28.95;VQSLOD=8.3440;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2552,196,0 13 73350079 73350079 T C exonic DIS3 nonsynonymous SNV DIS3:NM_001322348:exon4:c.A437G:p.N146S,DIS3:NM_001128226:exon5:c.A716G:p.N239S,DIS3:NM_014953:exon5:c.A806G:p.N269S,DIS3:NM_001322349:exon6:c.A320G:p.N107S 0.33 0.083 0.47 0.45 0.26 0.49 0.3363 0.1064 0.5863 0.4868 0.3034 0.2862 0.3144 0.4412 0.23 0.11 0.3 0.29 0.2 rs4883918 COSM5003869 8(soft_tissue);1(pancreas) . . . . . . . . . . . 0.464 0.091 T 0.0 0.026 B 0.0 0.013 B 0.180 0.032 N 1 0.090 P -0.59 0.022 N 2.09 0.201 T 0.16 0.052 N 0.002 0.003 -0.938 0.429 T 0.000 0.000 T . . . -1.853 0.010 0.002 0.468 0.037 0.074 0.132 N c -1.774 -1.798 1.000 0.747 0.732 0.924 0 -8.07 0.010 0.614 0.238 -2.787 0.002 0.000 0.063 0.645 0.297 14.091 0.644 Nucleic acid-binding\x2c OB-fold ENSG00000083535.11|ENSG00000083535.11|ENSG00000083535.11|ENSG00000083535.11 Artery_Tibial|Brain_Cortex|Brain_Frontal_Cortex_BA9|Skin_Sun_Exposed_Lower_leg 0.3419 0.1002 0.5616 0.2276 0.4776 0.3018 0.2886 0.3355 0.4318 0.2589 0.1060 0.5084 0.2152 0.4807 0.3083 0.2964 0.3108 hom 1971.01 65 13 73350079 . T C 1971.01 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;QD=30.32;VQSLOD=8.6000;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2004,153,0 13 74339104 74339104 G T exonic KLF12 synonymous SNV KLF12:NM_007249:exon6:c.C840A:p.G280G 0.41 0.39 0.39 0.18 0.52 0.56 0.4870 0.3971 0.3471 0.1843 0.4481 0.5453 0.5088 0.5789 0.51 0.4 0.57 0.4 0.47 rs3764134 COSM3999121 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4837 0.3924 0.3537 0.6149 0.1826 0.4499 0.5516 0.5032 0.5794 0.4591 0.3965 0.3612 0.6159 0.1821 0.4424 0.5301 0.4754 het 1318.42 107 13 74339104 . G T 1318.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.718;DP=107;Dels=0.00;FS=2.585;HRun=2;HaplotypeScore=0.9958;MQ=58.73;MQ0=0;MQRankSum=0.266;QD=12.32;ReadPosRankSum=0.466;VQSLOD=6.4222;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,58:107:99:1348,0,1203 13 75876389 75876389 G A exonic TBC1D4 synonymous SNV TBC1D4:NM_001286659:exon14:c.C2712T:p.L904L,TBC1D4:NM_001286658:exon15:c.C2877T:p.L959L,TBC1D4:NM_014832:exon16:c.C2901T:p.L967L 0.37 0.29 0.5 0.15 0.55 0.42 0.4911 0.3208 0.5015 0.1656 0.5708 0.5661 0.4933 0.4191 0.48 0.34 0.55 0.48 0.48 rs2297208 COSM4147754 4(haematopoietic_and_lymphoid_tissue);1(thyroid) Likely benign not_specified RCV000118590.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4957 0.3233 0.4974 0.6053 0.1657 0.5831 0.5621 0.5152 0.4218 0.4701 0.3215 0.5289 0.6093 0.1623 0.5699 0.5563 0.5337 hom 3858.57 127 13 75876389 . G A 3858.57 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=30.38;VQSLOD=9.1920;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3858,292,0 13 75884216 75884216 C T exonic TBC1D4 nonsynonymous SNV TBC1D4:NM_001286659:exon12:c.G2266A:p.V756I,TBC1D4:NM_001286658:exon13:c.G2431A:p.V811I,TBC1D4:NM_014832:exon14:c.G2455A:p.V819I 0.71 0.4 0.66 0.8 0.86 0.93 0.8256 0.4798 0.6864 0.8117 0.8251 0.8757 0.8311 0.9328 0.77 0.5 0.88 0.78 0.72 rs1062087 COSM3999123 1(haematopoietic_and_lymphoid_tissue) Likely benign not_specified RCV000118589.2 MedGen CN169374 . . . . . . 0.545 0.135 T 0.0 0.026 B 0.0 0.040 B 0.002 0.376 N 1 0.090 P -1.04 0.011 N 4.09 0.210 T -0.01 0.072 N 0.011 0.101 -1.027 0.213 T 0.000 0.000 T . . . 0.963 0.186 10.45 0.764 0.111 0.032 0.081 N c -1.158 -1.003 1.000 0.422 0.706 0.609 0 1.89 0.246 0.032 0.135 0.154 0.240 0.000 0.063 0.822 0.344 0.181 0.001 . ENSG00000136111.8|ENSG00000136111.8|ENSG00000136111.8 Colon_Transverse|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8248 0.4756 0.6853 0.8716 0.8123 0.8253 0.8820 0.8311 0.9338 0.7554 0.4899 0.6902 0.8808 0.8251 0.8222 0.8828 0.8265 hom 1612.71 55 13 75884216 . C T 1612.71 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=29.32;VQSLOD=8.5328;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1646,135,0 13 75936519 75936519 C G exonic TBC1D4 synonymous SNV TBC1D4:NM_001286658:exon2:c.G723C:p.G241G,TBC1D4:NM_001286659:exon2:c.G723C:p.G241G,TBC1D4:NM_014832:exon2:c.G723C:p.G241G 1. 0.98 1. 1. 1. 1. 0.9992 0.9907 0.9994 0.9999 1 1 1 1 1. 0.99 1. 0.99 0.98 rs7983969 . . Likely benign not_specified RCV000118596.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 0.9903 0.9992 1 1 1 1.0000 0.9993 1 0.9975 0.9916 0.9976 1 1 1 1 0.9980 hom 4090.82 133 13 75936519 . C G 4090.82 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3479;MQ=59.65;MQ0=0;QD=30.76;VQSLOD=8.2961;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4090,373,0 13 75936636 75936636 G A exonic TBC1D4 synonymous SNV TBC1D4:NM_001286658:exon2:c.C606T:p.F202F,TBC1D4:NM_001286659:exon2:c.C606T:p.F202F,TBC1D4:NM_014832:exon2:c.C606T:p.F202F 0.048 0.0076 0.084 . 0.14 0.035 0.0976 0.0255 0.0594 0.0002 0.1042 0.1393 0.0967 0.0474 0.1 0.027 0.14 0.011 0.17 rs17254379 . . Likely benign not_specified RCV000118595.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0963 0.0220 0.0650 0.1065 0.0003 0.1030 0.1406 0.1113 0.0494 0.0882 0.0244 0.0859 0.0993 0 0.1175 0.1281 0.0866 het 2724.43 250 13 75936636 . G A 2724.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.897;DP=250;DS;Dels=0.00;FS=2.183;HRun=2;HaplotypeScore=4.2135;MQ=59.17;MQ0=0;MQRankSum=-0.217;QD=10.90;ReadPosRankSum=-1.631;VQSLOD=5.4375;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:142,107:250:99:2754,0,3897 13 76055820 76055820 G C exonic TBC1D4 synonymous SNV TBC1D4:NM_001286658:exon1:c.C84G:p.P28P,TBC1D4:NM_001286659:exon1:c.C84G:p.P28P,TBC1D4:NM_014832:exon1:c.C84G:p.P28P 0.36 0.55 0.36 0.22 0.4 0.2 0.3842 0.5738 0.2693 0.2043 0.3945 0.4302 0.4466 0.2699 0.43 0.52 0.39 0.27 0.16 rs7327548 COSM4147755 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) Likely benign not_specified RCV000118597.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3573 0.5564 0.2655 0.3738 0.1918 0.3561 0.4173 0.3830 0.2466 0.4217 0.5521 0.3209 0.4040 0.1693 0.3407 0.4055 0.3129 het 311.57 27 13 76055820 . G C 311.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.301;DP=27;Dels=0.00;FS=3.682;HRun=3;HaplotypeScore=1.9924;MQ=57.73;MQ0=0;MQRankSum=0.739;QD=11.54;ReadPosRankSum=0.027;VQSLOD=4.3834;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,14:27:99:342,0,286 13 76378459 76378459 T C exonic LMO7 synonymous SNV LMO7:NM_001306080:exon8:c.T696C:p.F232F,LMO7:NM_005358:exon9:c.T852C:p.F284F 0.94 0.89 0.93 1. 0.92 0.99 0.9362 0.8830 0.9604 0.9998 0.9522 0.9197 0.9383 0.9795 0.9 0.88 0.92 0.91 0.96 rs625033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9366 0.8805 0.9551 0.9209 0.9999 0.9498 0.9175 0.9140 0.9775 0.9214 0.8897 0.9474 0.9238 1 0.9459 0.9231 0.9367 hom 3361.86 104 13 76378459 . T C 3361.86 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.24;MQ0=0;QD=32.33;VQSLOD=9.7153;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3362,259,0 13 76382100 76382100 C T exonic LMO7 nonsynonymous SNV LMO7:NM_015842:exon7:c.C982T:p.L328F,LMO7:NM_001330583:exon8:c.C982T:p.L328F,LMO7:NM_001306080:exon10:c.C1681T:p.L561F 0.13 0.0083 0.24 0.23 0.13 0.11 0.1334 0.0217 0.3097 0.2142 0.1560 0.1129 0.1489 0.1062 0.08 0.025 0.1 0.15 . rs2241913 COSM3765716;COSM3765717 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.326 0.564 T 0.246 0.294 B 0.066 0.260 B 0.000 0.559 D 0.257 0.810 P . . . 0.59 0.555 T -0.91 0.245 N 0.059 0.274 -1.059 0.119 T 0.000 0.000 T . . . 4.061 0.545 23.7 0.999 0.969 0.979 0.778 D c 0.248 0.306 1.000 0.747 0.554 0.283 0 4.83 0.617 2.200 0.421 0.935 0.490 0.968 0.339 0.997 0.653 9.982 0.408 . ENSG00000261105.1|ENSG00000261105.1 Cells_Transformed_fibroblasts|Testis 0.1428 0.0195 0.2992 0.1234 0.2093 0.1542 0.1118 0.1435 0.1056 0.1024 0.0213 0.2840 0.1589 0.2029 0.1472 0.1155 0.1283 het 876.58 82 13 76382100 . C T 876.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.741;DP=82;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7273;MQ=59.09;MQ0=0;MQRankSum=0.769;QD=10.69;ReadPosRankSum=-1.725;VQSLOD=5.8259;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,35:82:99:907,0,1276 13 76423248 76423248 T C exonic LMO7 nonsynonymous SNV LMO7:NM_015842:exon24:c.T3485C:p.M1162T,LMO7:NM_001330583:exon25:c.T3485C:p.M1162T,LMO7:NM_005358:exon26:c.T3338C:p.M1113T,LMO7:NM_001306080:exon27:c.T4184C:p.M1395T 0.69 0.64 0.77 0.54 0.76 0.77 0.7203 0.6587 0.7440 0.5319 0.6628 0.7414 0.72 0.7774 0.72 0.67 0.75 0.71 0.79 rs7986131 COSM1367702;COSM1367703;COSM1367704 2(prostate);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.550 0.114 N 1 0.090 P -2.075 0.002 N 1.65 0.396 T 2.1 0.004 N 0.062 0.051 -0.943 0.422 T 0.000 0.000 T . . . -1.997 0.008 0.001 0.130 0.002 0.001 0.007 N c -1.590 -1.429 0.840 0.248 0.707 0.730 0 2.35 0.280 -0.941 0.040 0.069 0.176 0.000 0.063 0.006 0.095 8.707 0.333 PDZ domain ENSG00000261105.1|ENSG00000261105.1|ENSG00000261105.1|ENSG00000178734.4|ENSG00000261105.1 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis 0.7219 0.6596 0.7478 0.8257 0.5223 0.6641 0.7393 0.7551 0.7760 0.6952 0.6637 0.7416 0.8792 0.5223 0.6727 0.7303 0.7067 het 724.05 73 13 76423248 . T C 724.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.671;DP=73;Dels=0.00;FS=1.142;HRun=0;HaplotypeScore=2.5929;MQ=60.00;MQ0=0;MQRankSum=-1.009;QD=9.92;ReadPosRankSum=-1.133;VQSLOD=5.6292;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,29:73:99:754,0,1214 13 77574983 77574983 A G exonic CLN5 nonsynonymous SNV CLN5:NM_006493:exon4:c.A1103G:p.K368R 0.24 0.47 0.2 0.28 0.097 0.084 0.1417 0.4145 0.2547 0.2590 0.0924 0.0838 0.1350 0.0846 0.19 0.4 0.079 0.3 0.041 rs1800209 COSM3753745 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Neuronal_Ceroid-Lipofuscinosis\x2c_Dominant/Recessive RCV000116751.4|RCV000372934.1 MedGen|MedGen CN169374|CN239251 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.191 P -1.04 0.011 N -2.34 0.880 D 0.54 0.028 N 0.054 0.036 -0.988 0.332 T 0.000 0.000 T . . . 0.217 0.115 4.857 0.776 0.115 0.599 0.308 D c -0.791 -0.504 1.000 0.747 0.722 0.854 0 5.0 0.661 3.821 0.552 0.138 0.222 1.000 0.715 0.993 0.574 7.212 0.250 . ENSG00000005812.6|ENSG00000102805.9|ENSG00000102805.9 Artery_Tibial|Artery_Tibial|Pancreas 0.1403 0.4156 0.2448 0.0973 0.2632 0.0938 0.0798 0.1223 0.0897 0.1930 0.4223 0.2279 0.0993 0.2550 0.1008 0.0799 0.1110 het 245.87 26 13 77574983 . A G 245.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.766;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.501;QD=9.46;ReadPosRankSum=0.975;VQSLOD=11.5871;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,10:26:99:276,0,412 13 77751892 77751892 C T exonic MYCBP2 synonymous SNV MYCBP2:NM_015057:exon35:c.G5331A:p.L1777L 0.56 0.31 0.77 0.57 0.74 0.54 0.6894 0.3647 0.8619 0.6073 0.7600 0.7430 0.7279 0.5697 0.62 0.37 0.75 0.47 0.74 rs4885445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7056 0.3616 0.8507 0.7487 0.6087 0.7661 0.7448 0.7346 0.5680 0.6415 0.3690 0.8022 0.7333 0.6252 0.7731 0.7545 0.7280 het 634.95 62 13 77751892 . C T 634.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.007;DP=62;Dels=0.00;FS=3.633;HRun=0;HaplotypeScore=1.8628;MQ=60.00;MQ0=0;MQRankSum=1.876;QD=10.24;ReadPosRankSum=-0.506;VQSLOD=5.5734;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,26:62:99:665,0,910 13 77834627 77834627 A C exonic MYCBP2 synonymous SNV MYCBP2:NM_015057:exon13:c.T1953G:p.S651S 0.019 0.0038 0.01 0.038 0.04 0.0061 0.0294 0.0044 0.0356 0.0621 0.0511 0.0298 0.0343 0.0129 0.017 0.0054 0.023 0.022 . rs61749893 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0293 0.0046 0.0307 0.0383 0.0664 0.0504 0.0256 0.0309 0.0135 0.0278 0.0050 0.0323 0.0464 0.0712 0.0522 0.0296 0.0336 het 830.08 64 13 77834627 . A C 830.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.430;DP=64;Dels=0.00;FS=0.991;HRun=1;HaplotypeScore=1.7608;MQ=58.03;MQ0=0;MQRankSum=0.430;QD=12.97;ReadPosRankSum=-0.081;VQSLOD=5.2773;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,31:64:99:860,0,865 13 78146301 78146301 C T exonic SCEL synonymous SNV SCEL:NM_003843:exon9:c.C522T:p.S174S,SCEL:NM_144777:exon9:c.C522T:p.S174S 0.99 0.97 0.99 1. 1. 1. 0.9970 0.9695 0.9980 1 1 0.9996 0.9967 0.9998 0.99 0.97 1. 0.96 1. rs678047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9976 0.9684 0.9981 1 1 1 0.9997 0.9974 0.9999 0.9910 0.9692 0.9964 1 1 1 0.9997 0.9990 hom 3193.24 103 13 78146301 . C T 3193.24 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9152;MQ=59.41;MQ0=0;QD=31.00;VQSLOD=9.2660;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3226,247,0 13 78216873 78216873 A G exonic SCEL synonymous SNV SCEL:NM_001160706:exon30:c.A1854G:p.L618L,SCEL:NM_003843:exon31:c.A1920G:p.L640L,SCEL:NM_144777:exon32:c.A1980G:p.L660L 0.41 0.29 0.56 0.18 0.64 0.48 0.5294 0.3273 0.5151 0.1655 0.5994 0.6146 0.5896 0.4814 0.52 0.33 0.61 0.45 0.54 rs1053985 COSM147703 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5315 0.3208 0.5214 0.6524 0.1540 0.6029 0.6095 0.5798 0.4765 0.4948 0.3220 0.5275 0.6722 0.1506 0.5788 0.6027 0.5735 hom 1232.35 44 13 78216873 . A G 1232.35 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.18;MQ0=0;QD=28.01;VQSLOD=8.2343;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:93.30:1265,93,0 13 78475313 78475313 T C exonic EDNRB synonymous SNV EDNRB:NM_001122659:exon4:c.A831G:p.L277L,EDNRB:NM_003991:exon4:c.A831G:p.L277L,EDNRB:NM_000115:exon5:c.A831G:p.L277L,EDNRB:NM_001201397:exon5:c.A1101G:p.L367L 0.54 0.58 0.58 0.35 0.64 0.57 0.5799 0.5501 0.5794 0.3439 0.6001 0.6189 0.5785 0.5566 0.6 0.57 0.61 0.6 0.52 rs5351 COSM3753749;COSM3753748;COSM3753750 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign not_specified|Waardenburg_syndrome|Hirschsprung_Disease\x2c_Recessive RCV000219248.2|RCV000263642.1|RCV000321151.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen CN169374|C3266898:ORPHA3440:47434006|CN239285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5758 0.5459 0.5839 0.5098 0.3311 0.5986 0.6216 0.5927 0.5551 0.5804 0.5318 0.6079 0.5563 0.3243 0.5932 0.6300 0.5988 het 685.02 40 13 78475313 . T C 685.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.269;DP=40;Dels=0.00;FS=1.516;HRun=0;HaplotypeScore=0.0000;MQ=56.96;MQ0=0;MQRankSum=0.307;QD=17.13;ReadPosRankSum=0.587;VQSLOD=3.7646;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,25:40:99:715,0,379 13 78477674 78477674 A G exonic EDNRB synonymous SNV EDNRB:NM_001122659:exon2:c.T552C:p.S184S,EDNRB:NM_003991:exon2:c.T552C:p.S184S,EDNRB:NM_000115:exon3:c.T552C:p.S184S,EDNRB:NM_001201397:exon3:c.T822C:p.S274S 0.98 0.95 0.99 1. 1. 0.99 0.9949 0.9528 0.9979 0.9999 1 0.9998 0.9945 0.9949 0.98 0.96 1. 0.96 0.98 rs5348 . . Benign not_specified RCV000220746.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9959 0.9522 0.9974 1 0.9998 1 0.9998 0.9967 0.9950 0.9852 0.9487 0.9964 1 1 1 0.9995 0.9990 hom 2179.93 83 13 78477674 . A G 2179.93 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.438;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9966;MQ=57.36;MQ0=0;MQRankSum=1.482;QD=26.26;ReadPosRankSum=1.523;VQSLOD=4.7912;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,82:83:99:2213,147,0 13 86369120 86369120 C T exonic SLITRK6 synonymous SNV SLITRK6:NM_032229:exon2:c.G1524A:p.L508L 0.75 0.88 0.65 0.7 0.76 0.69 0.7210 0.8600 0.5785 0.6961 0.8307 0.7269 0.7167 0.6829 0.77 0.86 0.72 0.83 0.7 rs3825413 COSM1367972 22(soft_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7152 0.8666 0.5905 0.5701 0.6998 0.8343 0.7325 0.7037 0.6837 0.7835 0.8615 0.6271 0.5563 0.6983 0.8345 0.7490 0.7761 hom 1534.44 53 13 86369120 . C T 1534.44 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.60;MQ0=0;QD=28.95;VQSLOD=8.4135;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1567,126,0 13 92345579 92345579 C T exonic GPC5 nonsynonymous SNV GPC5:NM_004466:exon3:c.C464T:p.A155V 0.2 0.19 0.15 0.29 0.15 0.19 0.1402 0.1852 0.1112 0.2914 0.0836 0.1133 0.1553 0.1833 0.14 0.19 0.11 0.25 0.12 rs553717 COSM3753756 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.032 0.446 D 0.013 0.154 B 0.014 0.158 B 0.006 0.323 N 0.064 0.371 P 2.33 0.670 M 0.59 0.540 T -2.78 0.589 D 0.039 0.019 -1.066 0.104 T 0.000 0.000 T . . . 4.066 0.546 23.7 0.997 0.794 0.872 0.463 D c -0.315 -0.220 1.000 0.747 0.554 0.246 0 4.19 0.485 2.787 0.472 0.892 0.403 0.865 0.305 0.812 0.340 11.209 0.478 . . . 0.1375 0.1860 0.1169 0.1349 0.2929 0.0841 0.1121 0.1361 0.1804 0.1286 0.1846 0.1181 0.1490 0.2985 0.0833 0.0901 0.1041 het 1609.16 121 13 92345579 . C T 1609.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.649;DP=121;Dels=0.00;FS=0.728;HRun=0;HaplotypeScore=1.5317;MQ=59.10;MQ0=0;MQRankSum=-0.008;QD=13.30;ReadPosRankSum=0.542;VQSLOD=6.7511;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,66:121:99:1639,0,1369 13 95264604 95264604 C T exonic GPR180 synonymous SNV GPR180:NM_180989:exon3:c.C465T:p.A155A 0.28 0.17 0.25 0.32 0.35 0.34 0.3315 0.1821 0.2300 0.3098 0.3550 0.3694 0.3623 0.3438 0.32 0.2 0.38 0.3 0.24 rs9524559 COSM3753757 3(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3300 0.1754 0.2377 0.3175 0.3090 0.3550 0.3747 0.3351 0.3421 0.3056 0.1776 0.2554 0.3033 0.3187 0.3494 0.3690 0.3408 het 1434.87 126 13 95264604 . C T 1434.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.178;DP=126;Dels=0.00;FS=0.747;HRun=0;HaplotypeScore=6.5336;MQ=59.47;MQ0=0;MQRankSum=-0.518;QD=11.39;ReadPosRankSum=-0.518;VQSLOD=4.3974;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,57:126:99:1465,0,1646 13 95364046 95364046 C G exonic SOX21 synonymous SNV SOX21:NM_007084:exon1:c.G258C:p.L86L 0.38 0.27 0.43 0.47 0.47 0.32 0.4185 0.2897 0.4531 0.4941 0.5602 0.4293 0.4570 0.3331 0.38 0.3 0.42 0.14 0.38 rs1060474 COSM3723676 1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4245 0.2908 0.4458 0.4297 0.4889 0.5571 0.4241 0.4321 0.3339 0.4122 0.2958 0.4504 0.4367 0.4733 0.5526 0.4368 0.4381 hom 3963.38 117 13 95364046 . C G 3963.38 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2859;MQ=59.55;MQ0=0;QD=33.88;VQSLOD=8.5309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3963,313,0 13 95726541 95726541 A G exonic ABCC4 synonymous SNV ABCC4:NM_001301829:exon22:c.T2703C:p.F901F,ABCC4:NM_005845:exon23:c.T2844C:p.F948F 0.9 0.91 0.96 0.8 0.94 0.94 0.9335 0.9125 0.9313 0.7903 0.9175 0.9517 0.9332 0.9559 0.95 0.92 0.96 0.91 0.96 rs1189466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9339 0.9169 0.9316 0.9599 0.7939 0.9140 0.9543 0.9332 0.9555 0.9271 0.9141 0.9296 0.9735 0.8066 0.9161 0.9501 0.9131 hom 1983.45 73 13 95726541 . A G 1983.45 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=27.17;VQSLOD=7.6690;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2016,159,0 13 95727780 95727780 T C exonic ABCC4 synonymous SNV ABCC4:NM_001301829:exon21:c.A2571G:p.L857L,ABCC4:NM_005845:exon22:c.A2712G:p.L904L 0.89 0.85 0.95 0.79 0.94 0.94 0.9283 0.8542 0.9290 0.7924 0.9182 0.9516 0.9306 0.9554 0.93 0.86 0.96 0.9 0.93 rs1678339 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9294 0.8545 0.9290 0.9575 0.7942 0.9138 0.9542 0.9298 0.9552 0.9112 0.8600 0.9258 0.9702 0.8065 0.9156 0.9495 0.9080 hom 4007.53 122 13 95727780 . T C 4007.53 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.66;MQ0=0;QD=32.85;VQSLOD=9.7171;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4007,304,0 13 95858978 95858978 T C exonic ABCC4 synonymous SNV ABCC4:NM_001301830:exon7:c.A744G:p.S248S,ABCC4:NM_001105515:exon8:c.A969G:p.S323S,ABCC4:NM_001301829:exon8:c.A969G:p.S323S,ABCC4:NM_005845:exon8:c.A969G:p.S323S 0.63 0.72 0.54 0.53 0.63 0.65 0.6362 0.6921 0.5650 0.5333 0.6293 0.6519 0.6391 0.6434 0.66 0.69 0.65 0.56 0.54 rs2274405 COSM147705;COSM3753759 1(stomach);19(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6304 0.6971 0.5733 0.5352 0.5275 0.6335 0.6600 0.6255 0.6391 0.6538 0.6962 0.5597 0.57 0.5396 0.6318 0.6544 0.6391 het 2879.07 248 13 95858978 . T C 2879.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.713;DP=248;DS;Dels=0.00;FS=2.152;HRun=0;HaplotypeScore=4.6127;MQ=59.55;MQ0=0;MQRankSum=-1.342;QD=11.61;ReadPosRankSum=1.610;VQSLOD=4.7082;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:131,117:248:99:2909,0,3667 13 95858996 95858996 T C exonic ABCC4 synonymous SNV ABCC4:NM_001301830:exon7:c.A726G:p.R242R,ABCC4:NM_001105515:exon8:c.A951G:p.R317R,ABCC4:NM_001301829:exon8:c.A951G:p.R317R,ABCC4:NM_005845:exon8:c.A951G:p.R317R 0.52 0.35 0.5 0.53 0.62 0.64 0.6043 0.3774 0.5461 0.5306 0.6291 0.6481 0.6145 0.6387 0.56 0.39 0.65 0.48 0.52 rs2274406 COSM147706;COSM3753760 1(stomach);18(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6038 0.3711 0.5521 0.5260 0.5246 0.6334 0.6562 0.6014 0.6343 0.5588 0.3703 0.5274 0.5604 0.5373 0.6310 0.6510 0.6296 het 4020.83 243 13 95858996 . T C 4020.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.706;DP=243;DS;Dels=0.00;FS=1.588;HRun=3;HaplotypeScore=5.3204;MQ=59.34;MQ0=0;MQRankSum=-1.006;QD=16.55;ReadPosRankSum=-0.889;VQSLOD=4.2996;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,122:243:99:3379,0,3361 13 95861804 95861804 A G exonic ABCC4 synonymous SNV ABCC4:NM_001301830:exon5:c.T444C:p.I148I,ABCC4:NM_001105515:exon6:c.T669C:p.I223I,ABCC4:NM_001301829:exon6:c.T669C:p.I223I,ABCC4:NM_005845:exon6:c.T669C:p.I223I 0.81 0.8 0.85 0.81 0.84 0.75 0.8289 0.7968 0.8841 0.7827 0.8486 0.8489 0.8064 0.7467 0.83 0.79 0.85 0.75 0.79 rs899494 COSM4147784;COSM4147785 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8326 0.7980 0.8837 0.7367 0.7873 0.8523 0.8589 0.8252 0.7418 0.8333 0.8021 0.8699 0.7333 0.7741 0.8475 0.8551 0.8248 hom 3823.13 122 13 95861804 . A G 3823.13 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9053;MQ=59.69;MQ0=0;QD=31.34;VQSLOD=9.2043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3823,304,0 13 96638636 96638636 A C exonic UGGT2 nonsynonymous SNV UGGT2:NM_020121:exon9:c.T982G:p.S328A 0.84 0.78 0.78 0.93 0.87 0.85 0.8599 0.7986 0.7506 0.9269 0.8805 0.8775 0.8852 0.8590 0.85 0.81 0.88 0.9 0.82 rs816142 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.000 0.477 N 1.000 0.810 P -2.27 0.001 N 2.7 0.122 T 1.69 0.006 N 0.033 0.020 -0.966 0.380 T 0.000 0.000 T . . . 0.918 0.182 10.18 0.403 0.028 0.094 0.150 N c -0.787 -0.452 0.952 0.279 0.706 0.609 0 5.54 0.828 2.465 0.445 0.067 0.174 1.000 0.715 0.999 0.750 14.873 0.700 . ENSG00000102595.14|ENSG00000102595.14|ENSG00000134874.13|ENSG00000102595.14|ENSG00000102595.14|ENSG00000134874.13|ENSG00000102595.14|ENSG00000102595.14|ENSG00000102595.14|ENSG00000102595.14|ENSG00000102595.14|ENSG00000102595.14|ENSG00000102595.14|ENSG00000102595.14|ENSG00000102595.14 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach 0.8556 0.7984 0.7514 0.8549 0.9263 0.8869 0.8759 0.8566 0.8595 0.8563 0.7994 0.7914 0.82 0.9499 0.8861 0.8763 0.8648 hom 1092.53 38 13 96638636 . A C 1092.53 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.641;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.39;MQ0=0;MQRankSum=1.641;QD=28.75;ReadPosRankSum=-1.277;VQSLOD=7.4840;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,37:38:84.27:1126,84,0 13 97639414 97639414 C T exonic OXGR1 synonymous SNV OXGR1:NM_001346194:exon4:c.G600A:p.L200L,OXGR1:NM_001346195:exon4:c.G600A:p.L200L,OXGR1:NM_001346196:exon4:c.G600A:p.L200L,OXGR1:NM_001346197:exon4:c.G600A:p.L200L,OXGR1:NM_080818:exon4:c.G600A:p.L200L 0.52 0.59 0.35 0.45 0.54 0.62 0.5219 0.5618 0.2357 0.4371 0.5646 0.5436 0.5716 0.6344 0.55 0.57 0.53 0.51 0.54 rs9284174 COSM3753765 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5103 0.5584 0.2563 0.5161 0.4393 0.5674 0.5442 0.5106 0.6368 0.5567 0.5637 0.2995 0.5467 0.4589 0.5894 0.5696 0.5653 het 2417.81 218 13 97639414 . C T 2417.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.948;DP=218;DS;Dels=0.00;FS=1.739;HRun=1;HaplotypeScore=3.0271;MQ=59.34;MQ0=0;MQRankSum=-1.591;QD=11.09;ReadPosRankSum=-1.584;VQSLOD=5.2495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,90:218:99:2448,0,3681 13 98829176 98829176 T C exonic RNF113B synonymous SNV RNF113B:NM_178861:exon1:c.A315G:p.P105P 0.75 0.32 0.84 0.93 0.93 0.9 0.8858 0.4048 0.8579 0.9400 0.9576 0.9415 0.9060 0.9242 0.77 0.43 0.94 0.63 0.93 rs628778 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8915 0.3944 0.8497 0.9410 0.9445 0.9578 0.9402 0.9060 0.9246 0.7933 0.4091 0.8611 0.9536 0.9523 0.9630 0.9433 0.9235 hom 2969.59 100 13 98829176 . T C 2969.59 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;QD=29.70;VQSLOD=8.4829;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3003,256,0 13 99064244 99064244 T C exonic FARP1 synonymous SNV FARP1:NM_001286839:exon16:c.T1782C:p.F594F,FARP1:NM_005766:exon16:c.T1782C:p.F594F 0.029 0.0038 0.026 0.001 0.079 0.043 0.0614 0.0159 0.0258 0.0001 0.0721 0.0836 0.0562 0.0534 0.058 0.02 0.077 . 0.15 rs11556829 COSM3753769;COSM3753768 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0595 0.0157 0.0265 0.0393 0.0001 0.0717 0.0854 0.0591 0.0539 0.0626 0.0181 0.0322 0.0331 0.0019 0.0675 0.0946 0.0866 het 2522.74 192 13 99064244 . T C 2522.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.555;DP=192;Dels=0.00;FS=3.326;HRun=1;HaplotypeScore=6.5595;MQ=59.25;MQ0=0;MQRankSum=-1.012;QD=13.14;ReadPosRankSum=1.562;VQSLOD=3.9511;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,96:192:99:2553,0,2673 13 99100547 99100547 T C exonic FARP1 synonymous SNV FARP1:NM_005766:exon27:c.T3114C:p.S1038S,FARP1:NM_001286839:exon28:c.T3207C:p.S1069S 0.5 0.46 0.44 0.56 0.59 0.45 0.5414 0.4860 0.3920 0.5730 0.6267 0.5841 0.5848 0.4549 0.55 0.49 0.58 0.51 0.49 rs12261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5381 0.4867 0.4010 0.5600 0.5603 0.6284 0.5835 0.5629 0.4592 0.5468 0.4922 0.4045 0.5033 0.5558 0.6166 0.5694 0.5591 hom 4074.27 146 13 99100547 . T C 4074.27 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.29;MQ0=1;QD=27.91;VQSLOD=7.7215;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4074,304,0 13 99112680 99112680 C T exonic STK24 synonymous SNV STK24:NM_001286649:exon8:c.G1011A:p.P337P,STK24:NM_001032296:exon9:c.G1068A:p.P356P,STK24:NM_003576:exon9:c.G1104A:p.P368P 1. 0.99 1. 1. 1. 1. 0.9995 0.9949 0.9990 1 1 1 1 1 1. 1. 1. 1. 0.95 rs4771305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9951 0.9994 1 1 1 1 0.9995 1 0.9985 0.9947 0.9988 1 1 1 1 1 hom 1128.65 41 13 99112680 . C T 1128.65 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.42;MQ0=0;QD=27.53;VQSLOD=7.4788;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:87.28:1162,87,0 13 99356612 99356612 A G exonic SLC15A1 synonymous SNV SLC15A1:NM_005073:exon17:c.T1347C:p.A449A 0.63 0.86 0.73 0.34 0.63 0.56 0.6420 0.8200 0.6668 0.3232 0.6609 0.6687 0.6236 0.5640 0.71 0.82 0.66 0.6 0.6 rs1339067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6380 0.8228 0.6672 0.6302 0.3354 0.6575 0.6668 0.6645 0.5631 0.6965 0.8234 0.6766 0.63 0.3610 0.6708 0.6674 0.6943 het 2098.11 161 13 99356612 . A G 2098.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.626;DP=161;Dels=0.00;FS=1.996;HRun=1;HaplotypeScore=3.6617;MQ=58.53;MQ0=0;MQRankSum=1.128;QD=13.03;ReadPosRankSum=-2.216;VQSLOD=4.7235;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,80:161:99:2128,0,2328 13 99479139 99479139 T C exonic DOCK9 unknown UNKNOWN 0.043 0.0068 0.055 0.001 0.12 0.045 0.0999 0.0253 0.0491 0.0008 0.1329 0.1346 0.0977 0.0709 0.083 0.026 0.11 0.033 . rs17709314 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0799 0.0207 0.0415 0.0754 0.0004 0.1124 0.1116 0.0839 0.0581 0.0819 0.0237 0.0573 0.0795 0.0006 0.1188 0.1154 0.1135 het 301.74 26 13 99479139 . T C 301.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.177;DP=26;Dels=0.00;FS=1.619;HRun=1;HaplotypeScore=0.9159;MQ=59.28;MQ0=0;MQRankSum=0.301;QD=11.61;ReadPosRankSum=-1.287;VQSLOD=6.6166;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,14:26:99:332,0,294 13 99948097 99948097 A G exonic GPR183 synonymous SNV GPR183:NM_004951:exon2:c.T303C:p.D101D 0.072 0.088 0.046 0.12 0.053 0.038 0.0598 0.0884 0.0410 0.1241 0.0187 0.0556 0.0619 0.0537 0.075 0.087 0.068 0.098 0.057 rs2230343 COSM3753773 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0585 0.0904 0.0439 0.0273 0.1282 0.0173 0.0605 0.0597 0.0498 0.0649 0.0937 0.0492 0.0364 0.1177 0.0209 0.0558 0.0418 het 1111.72 108 13 99948097 . A G 1111.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.060;DP=108;Dels=0.00;FS=11.591;HRun=0;HaplotypeScore=0.8941;MQ=58.79;MQ0=0;MQRankSum=0.728;QD=10.29;ReadPosRankSum=-0.091;VQSLOD=4.6051;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,44:108:99:1142,0,1829 13 99948178 99948178 C A exonic GPR183 synonymous SNV GPR183:NM_004951:exon2:c.G222T:p.V74V 0.26 0.21 0.24 0.19 0.37 0.28 0.3080 0.2294 0.1814 0.1827 0.2269 0.3645 0.3355 0.3144 0.33 0.25 0.37 0.25 0.35 rs2230342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3038 0.2237 0.1919 0.4076 0.1896 0.2367 0.3654 0.3450 0.3142 0.2845 0.2253 0.2530 0.4404 0.1811 0.2308 0.3411 0.2857 het 1214.66 101 13 99948178 . C A 1214.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.474;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;MQRankSum=0.344;QD=12.03;ReadPosRankSum=0.624;VQSLOD=6.8726;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,46:101:99:1245,0,1474 13 100518580 100518580 A G exonic CLYBL nonsynonymous SNV CLYBL:NM_206808:exon6:c.A721G:p.I241V 0.83 0.9 0.75 0.88 0.74 0.81 0.7473 0.8760 0.7402 0.8739 0.6843 0.7069 0.7225 0.7948 0.76 0.87 0.71 0.85 0.73 rs3783185 COSM1179725 1(prostate) . . . . . . . . . . . 0.106 0.403 T 0.102 0.243 B 0.437 0.438 B 0.000 0.843 N 0.000 0.588 P 1.565 0.397 L 1.37 0.560 T -0.89 0.249 N 0.054 0.137 -1.045 0.157 T 0.000 0.000 T . . . 2.706 0.386 20.8 0.994 0.614 0.937 0.587 D c -0.005 0.090 1.000 0.500 0.706 0.609 0 3.17 0.354 4.813 0.621 1.140 0.893 1.000 0.715 0.987 0.523 10.038 0.411 HpcH/HpaI aldolase/citrate lyase domain|Pyruvate/Phosphoenolpyruvate kinase-like domain . . 0.7449 0.8772 0.7410 0.8070 0.8716 0.6929 0.7018 0.7547 0.7849 0.7430 0.8756 0.7363 0.8344 0.8796 0.6771 0.6673 0.7051 het 1575.48 144 13 100518580 . A G 1575.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.561;DP=144;Dels=0.00;FS=2.979;HRun=0;HaplotypeScore=8.5408;MQ=59.32;MQ0=0;MQRankSum=-0.682;QD=10.94;ReadPosRankSum=-0.601;VQSLOD=4.2584;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,67:144:99:1605,0,1854 13 101287340 101287340 C T exonic TMTC4 nonsynonymous SNV TMTC4:NM_001286453:exon8:c.G922A:p.V308I,TMTC4:NM_001079669:exon10:c.G1255A:p.V419I,TMTC4:NM_001350577:exon10:c.G1249A:p.V417I,TMTC4:NM_001350572:exon11:c.G1255A:p.V419I,TMTC4:NM_001350574:exon11:c.G1429A:p.V477I,TMTC4:NM_001350576:exon11:c.G1306A:p.V436I,TMTC4:NM_032813:exon11:c.G1312A:p.V438I,TMTC4:NM_001350571:exon12:c.G1486A:p.V496I 0.39 0.38 0.24 0.61 0.3 0.37 0.3469 0.3587 0.2970 0.5771 0.4328 0.3068 0.3719 0.3806 0.32 0.36 0.3 0.36 0.36 rs946837 COSM1365194 1(skin);1(large_intestine) . . . . . . . . . . . 0.369 0.116 T 0.002 0.119 B 0.005 0.127 B 0.008 0.312 N 1 0.090 P 0.33 0.104 N 0.72 0.510 T -0.45 0.158 N 0.025 0.047 -0.928 0.444 T 0.000 0.000 T . . . -0.057 0.088 2.075 0.600 0.062 0.107 0.159 N c -1.118 -1.069 0.949 0.278 0.719 0.830 0 2.4 0.284 2.373 0.437 -0.321 0.076 0.955 0.331 0.002 0.062 8.902 0.345 Domain of unknown function DUF1736 ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11|ENSG00000125247.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Thyroid|Whole_Blood 0.3451 0.3605 0.2885 0.3203 0.5799 0.4282 0.3014 0.3155 0.3790 0.3555 0.3639 0.2787 0.3322 0.5884 0.4318 0.3130 0.3483 het 1558.28 112 13 101287340 . C T 1558.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.169;DP=112;Dels=0.00;FS=0.764;HRun=0;HaplotypeScore=5.8135;MQ=59.59;MQ0=0;MQRankSum=-2.063;QD=13.91;ReadPosRankSum=-0.763;VQSLOD=3.7971;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,59:112:99:1588,0,1328 13 101287365 101287365 T C exonic TMTC4 synonymous SNV TMTC4:NM_001286453:exon8:c.A897G:p.A299A,TMTC4:NM_001079669:exon10:c.A1230G:p.A410A,TMTC4:NM_001350577:exon10:c.A1224G:p.A408A,TMTC4:NM_001350572:exon11:c.A1230G:p.A410A,TMTC4:NM_001350574:exon11:c.A1404G:p.A468A,TMTC4:NM_001350576:exon11:c.A1281G:p.A427A,TMTC4:NM_032813:exon11:c.A1287G:p.A429A,TMTC4:NM_001350571:exon12:c.A1461G:p.A487A 0.84 0.64 0.89 0.99 0.87 0.87 0.8647 0.6762 0.9323 0.9903 0.9111 0.8621 0.8778 0.8611 0.81 0.69 0.87 0.76 0.89 rs946838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8728 0.6800 0.9276 0.9011 0.9917 0.9085 0.8579 0.8729 0.8614 0.8177 0.6818 0.9153 0.9040 0.9945 0.9143 0.8447 0.8653 het 1127.37 89 13 101287365 . T C 1127.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.922;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6669;MQ=60.00;MQ0=0;MQRankSum=-0.283;QD=12.67;ReadPosRankSum=-0.250;VQSLOD=6.2281;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,46:89:99:1157,0,1114 13 101720300 101720300 T G exonic NALCN synonymous SNV NALCN:NM_001350750:exon38:c.A4329C:p.I1443I,NALCN:NM_001350751:exon38:c.A4329C:p.I1443I,NALCN:NM_001350749:exon39:c.A4416C:p.I1472I,NALCN:NM_052867:exon39:c.A4416C:p.I1472I,NALCN:NM_001350748:exon40:c.A4503C:p.I1501I 0.4 0.75 0.28 0.12 0.36 0.36 0.3529 0.7215 0.1741 0.1236 0.3491 0.3611 0.3040 0.3367 0.48 0.72 0.36 0.39 0.36 rs1289556 COSM4147544 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) Benign not_specified RCV000251616.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3407 0.7220 0.1838 0.4261 0.1254 0.3534 0.3602 0.3334 0.3357 0.4464 0.7140 0.2446 0.4272 0.1326 0.3573 0.3624 0.3691 het 1217.01 103 13 101720300 . T G 1217.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.055;DP=103;Dels=0.00;FS=0.733;HRun=0;HaplotypeScore=1.8288;MQ=59.05;MQ0=0;MQRankSum=0.996;QD=11.82;ReadPosRankSum=0.321;VQSLOD=6.7657;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,47:103:99:1247,0,1313 13 101735211 101735211 G A exonic NALCN synonymous SNV NALCN:NM_001350750:exon32:c.C3627T:p.T1209T,NALCN:NM_001350751:exon32:c.C3627T:p.T1209T,NALCN:NM_001350749:exon33:c.C3714T:p.T1238T,NALCN:NM_052867:exon33:c.C3714T:p.T1238T,NALCN:NM_001350748:exon34:c.C3801T:p.T1267T 0.33 0.12 0.25 0.51 0.37 0.43 0.3513 0.1275 0.2362 0.4729 0.4364 0.3621 0.4248 0.4276 0.28 0.13 0.35 0.29 0.26 rs17677552 COSM3753558 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign not_specified RCV000242875.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3514 0.1261 0.2374 0.3739 0.4760 0.4305 0.3585 0.3559 0.4271 0.3076 0.1309 0.2458 0.3411 0.4629 0.4281 0.3645 0.3663 het 2274.80 182 13 101735211 . G A 2274.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.017;DP=182;Dels=0.00;FS=1.195;HRun=0;HaplotypeScore=6.8137;MQ=59.46;MQ0=0;MQRankSum=0.297;QD=12.50;ReadPosRankSum=1.249;VQSLOD=4.7526;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,88:182:99:2305,0,2336 13 101736075 101736075 A G exonic NALCN synonymous SNV NALCN:NM_001350750:exon30:c.T3483C:p.L1161L,NALCN:NM_001350751:exon30:c.T3483C:p.L1161L,NALCN:NM_001350749:exon31:c.T3570C:p.L1190L,NALCN:NM_052867:exon31:c.T3570C:p.L1190L,NALCN:NM_001350748:exon32:c.T3657C:p.L1219L 0.72 0.88 0.54 0.62 0.71 0.76 0.6992 0.8494 0.4139 0.5981 0.7272 0.7276 0.7135 0.7303 0.76 0.84 0.72 0.73 0.65 rs686141 COSM3753559 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign not_specified RCV000251083.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6870 0.8518 0.4281 0.7937 0.6058 0.7242 0.7265 0.6892 0.7289 0.7478 0.8418 0.5 0.7682 0.6006 0.7252 0.7296 0.7209 hom 1685.92 58 13 101736075 . A G 1685.92 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6665;MQ=60.00;MQ0=0;QD=29.07;VQSLOD=7.0670;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1719,132,0 13 101881777 101881777 G A exonic NALCN synonymous SNV NALCN:NM_001350750:exon12:c.C1506T:p.V502V,NALCN:NM_001350751:exon12:c.C1506T:p.V502V,NALCN:NM_001350748:exon13:c.C1593T:p.V531V,NALCN:NM_001350749:exon13:c.C1593T:p.V531V,NALCN:NM_052867:exon13:c.C1593T:p.V531V 0.19 0.1 0.19 0.042 0.35 0.31 0.2858 0.1347 0.1364 0.0385 0.3814 0.3518 0.2770 0.3109 0.28 0.13 0.36 0.23 0.44 rs3916906 COSM147711;COSM3753560 1(stomach);1(large_intestine) Benign not_specified RCV000243380.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2852 0.1344 0.1436 0.2969 0.0369 0.3671 0.3588 0.2948 0.3097 0.2724 0.1311 0.1945 0.2815 0.0309 0.3593 0.3613 0.3238 hom 4126.67 138 13 101881777 . G A 4126.67 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8934;MQ=58.20;MQ0=0;QD=29.90;VQSLOD=8.4477;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4126,313,0 13 103504517 103504517 T C exonic BIVM-ERCC5;ERCC5 synonymous SNV ERCC5:NM_000123:exon2:c.T138C:p.H46H,BIVM-ERCC5:NM_001204425:exon10:c.T1500C:p.H500H 0.49 0.68 0.4 0.25 0.58 0.47 0.5291 0.6545 0.2777 0.2660 0.6142 0.5861 0.5540 0.4982 0.61 0.66 0.59 0.41 0.52 rs1047768 COSM5827344;COSM3753565 1(thyroid);2(large_intestine) other|Benign not_specified|Xeroderma_pigmentosum RCV000116990.3|RCV000272532.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0043346:ORPHA910:44600005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5200 0.6617 0.2921 0.5763 0.2650 0.6179 0.5896 0.5317 0.4976 0.5913 0.6566 0.3732 0.5795 0.2574 0.6019 0.6009 0.5682 het 1119.63 103 13 103504517 . T C 1119.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.216;DP=103;Dels=0.00;FS=2.696;HRun=0;HaplotypeScore=2.9515;MQ=58.08;MQ0=0;MQRankSum=3.141;QD=10.87;ReadPosRankSum=1.927;VQSLOD=3.6438;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,46:103:99:1150,0,1439 13 103527849 103527849 G C exonic BIVM-ERCC5;ERCC5 nonsynonymous SNV ERCC5:NM_000123:exon15:c.G3157C:p.G1053R,BIVM-ERCC5:NM_001204425:exon23:c.G4519C:p.G1507R 1. 0.99 1. 1. 1. 1. 0.9994 0.9941 0.9995 1 1 1.0000 1 1 1. 0.99 1. 0.97 0.97 rs9514066 . . not provided not_specified RCV000120845.1 MedGen CN169374 . . . . . . 0.039 0.424 D 0.926 0.495 P 0.454 0.444 P 0.059 0.223 N 1 0.090 P 2.14 0.601 M 3.59 0.065 T -1.16 0.297 N 0.027 0.336 -0.856 0.516 T 0.000 0.000 T . . . 3.453 0.473 23.0 0.996 0.749 0.860 0.449 D c 0.084 0.055 1.000 0.747 0.707 0.730 0 4.28 0.500 3.466 0.526 0.100 0.199 0.950 0.328 0.996 0.625 5.688 0.170 . . . 0.9995 0.9939 0.9995 1 0.9999 1 1.0000 0.9993 1 0.9981 0.9934 1 1 1 1 1 1 hom 5754.46 200 13 103527849 . G C 5754.46 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7523;MQ=59.26;MQ0=0;QD=28.77;VQSLOD=6.9426;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:5753,457,0 13 103527930 103527930 G C exonic BIVM-ERCC5;ERCC5 nonsynonymous SNV ERCC5:NM_000123:exon15:c.G3238C:p.G1080R,BIVM-ERCC5:NM_001204425:exon23:c.G4600C:p.G1534R 1. 0.99 1. 1. 1. 0.99 0.9993 0.9940 0.9995 1 1 1.0000 1 0.9992 1. 0.99 1. 0.98 0.87 rs9514067 . . not provided\x2cLikely pathogenic not_specified\x2cXeroderma_pigmentosum\x2c_group_G RCV000120846.1\x2cRCV000190581.1 MedGen\x2cMedGen:OMIM:SNOMED_CT CN169374\x2cC0268141:278780:36454001 . . . . . . 0.588 0.058 T 0.0 0.026 B 0.0 0.013 B 0.020 0.015 N 1 0.090 P -0.205 0.041 N 3.65 0.062 T 0.35 0.038 N 0.009 0.039 -1.004 0.288 T 0.000 0.000 T . . . -0.838 0.039 0.035 0.627 0.069 0.023 0.065 N c -1.280 -1.285 1.000 0.454 0.707 0.730 0 0.141 0.140 -0.260 0.087 -0.073 0.120 0.000 0.063 0.016 0.126 7.996 0.293 . . . 0.9994 0.9938 0.9995 1 0.9999 1 0.9999 0.9995 0.9992 0.9981 0.9934 1 1 1 1 0.9999 1 hom 3126.91 109 13 103527930 . G C 3126.91 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.461;DP=109;Dels=0.00;FS=4.897;HRun=0;HaplotypeScore=3.9574;MQ=59.66;MQ0=0;MQRankSum=1.700;QD=28.69;ReadPosRankSum=1.700;VQSLOD=3.0642;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,108:109:99:3160,244,0 13 106142235 106142235 C T exonic DAOA synonymous SNV DAOA:NM_001161812:exon4:c.C183T:p.T61T 0.22 0.24 0.25 0.11 0.28 0.21 0.2635 0.2131 0.3445 0.1331 0.2939 0.2853 0.2506 0.2056 0.26 0.22 0.29 0.18 0.3 rs778294 COSN8864182 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2656 0.2138 0.3288 0.2602 0.1330 0.2920 0.2875 0.2614 0.2030 0.2626 0.2215 0.3079 0.25 0.1406 0.2932 0.2882 0.2908 het 1300.77 115 13 106142235 . C T 1300.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.696;DP=115;Dels=0.00;FS=4.635;HRun=0;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;MQRankSum=-0.615;QD=11.31;ReadPosRankSum=0.564;VQSLOD=6.1110;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,52:115:99:1331,0,1598 13 107145463 107145463 G C exonic EFNB2 synonymous SNV EFNB2:NM_004093:exon5:c.C927G:p.G309G 1. 1. 1. 1. 1. 1. 0.9999 0.9989 0.9999 1 1 1 1 1 1. 1. 1. 1. 1. rs7995379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9987 0.9999 1 1 1 1 1 1 0.9994 0.9978 1 1 1 1 1 1 hom 3663.72 108 13 107145463 . G C 3663.72 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=33.92;VQSLOD=9.2232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3663,286,0 13 107145610 107145610 C T exonic EFNB2 synonymous SNV EFNB2:NM_004093:exon5:c.G780A:p.S260S 0.0082 0.0015 0.014 . 0.026 0.0031 0.0169 0.0045 0.0083 0 0.0191 0.0254 0.0121 0.0050 0.019 0.0027 0.027 0.033 0.033 rs41275060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0171 0.0051 0.0096 0.0235 0 0.0183 0.0261 0.0197 0.0049 0.0175 0.0045 0.0060 0.0232 0 0.0175 0.0271 0.0235 het 1669.59 162 13 107145610 . C T 1669.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.225;DP=162;Dels=0.00;FS=2.055;HRun=0;HaplotypeScore=8.1854;MQ=59.11;MQ0=0;MQRankSum=-1.589;QD=10.31;ReadPosRankSum=0.648;VQSLOD=3.3575;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,66:162:99:1700,0,2503 13 109707827 109707827 T C exonic MYO16 synonymous SNV MYO16:NM_001198950:exon27:c.T3219C:p.D1073D,MYO16:NM_015011:exon27:c.T3153C:p.D1051D 0.092 0.0023 0.11 0.099 0.14 0.14 0.1243 0.0262 0.1481 0.1075 0.1604 0.1328 0.1060 0.1305 0.096 0.029 0.13 0.043 0.074 rs9521141 COSM147714;COSM3999014 1(bone);1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1262 0.0237 0.1441 0.0532 0.1128 0.1643 0.1344 0.1188 0.1322 0.1117 0.0270 0.1151 0.0430 0.1194 0.1618 0.1479 0.1418 het 531.30 50 13 109707827 . T C 531.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.693;DP=50;Dels=0.00;FS=7.911;HRun=0;HaplotypeScore=1.7883;MQ=60.00;MQ0=0;MQRankSum=-1.059;QD=10.63;ReadPosRankSum=0.505;VQSLOD=4.2309;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,20:50:99:561,0,780 13 109777503 109777503 A G exonic MYO16 nonsynonymous SNV MYO16:NM_001198950:exon30:c.A3579G:p.I1193M,MYO16:NM_015011:exon30:c.A3513G:p.I1171M 0.13 0.093 0.19 0.11 0.14 0.15 0.1438 0.0998 0.1971 0.1374 0.1604 0.1418 0.1258 0.1399 0.13 0.11 0.14 0.13 0.11 rs157024 COSM3999016;COSM3999015 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.037 0.244 N 1.000 0.182 P -2.015 0.002 N -3.73 0.955 D 1.12 0.012 N 0.036 0.039 -0.896 0.484 T 0.005 0.017 T . . . -0.987 0.032 0.017 0.264 0.013 0.036 0.088 N c -0.824 -0.619 0.302 0.192 0.487 0.133 0 3.68 0.412 2.593 0.456 -0.231 0.094 1.000 0.715 0.916 0.392 9.773 0.396 IQ motif\x2c EF-hand binding site|P-loop containing nucleoside triphosphate hydrolase . . 0.1486 0.0981 0.1994 0.1747 0.1370 0.1615 0.1381 0.1603 0.1435 0.1378 0.0945 0.1782 0.1821 0.1498 0.1551 0.1528 0.1650 het 657.09 64 13 109777503 . A G 657.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.698;DP=64;Dels=0.00;FS=2.090;HRun=0;HaplotypeScore=0.8321;MQ=59.64;MQ0=0;MQRankSum=-1.032;QD=10.27;ReadPosRankSum=-0.021;VQSLOD=6.3933;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,26:64:99:687,0,1035 13 109793246 109793246 G C exonic MYO16 synonymous SNV MYO16:NM_001198950:exon32:c.G4686C:p.P1562P,MYO16:NM_015011:exon32:c.G4620C:p.P1540P 0.046 0.027 0.065 . 0.11 0.042 0.0864 0.0388 0.0530 0.0008 0.0970 0.1185 0.0806 0.0549 0.072 0.029 0.093 . 0.066 rs80260507 COSM432099 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0685 0.0252 0.0464 0.0691 0.0007 0.0675 0.0972 0.0707 0.0454 0.0715 0.0278 0.0477 0.0833 0.0006 0.0662 0.1071 0.0692 het 64.08 17 13 109793246 . G C 64.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.076;DP=17;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.623;QD=3.77;ReadPosRankSum=-0.057;VQSLOD=9.2814;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,4:17:94.08:94,0,396 13 109793474 109793474 T C exonic MYO16 synonymous SNV MYO16:NM_001198950:exon32:c.T4914C:p.V1638V,MYO16:NM_015011:exon32:c.T4848C:p.V1616V 0.97 0.88 0.99 1. 1. 1. 0.9917 0.9073 0.9953 1 1 0.9995 0.9961 0.9999 0.97 0.91 1. 0.72 0.79 rs28705148 COSM4147569 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9934 0.9045 0.9947 0.9934 1 1 0.9998 0.9947 0.9997 0.9727 0.9042 0.9952 0.9934 1 1 0.9999 0.9959 hom 708.59 26 13 109793474 . T C 708.59 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.25;VQSLOD=12.9940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:60.18:742,60,0 13 109793720 109793720 A C exonic MYO16 synonymous SNV MYO16:NM_001198950:exon32:c.A5160C:p.A1720A,MYO16:NM_015011:exon32:c.A5094C:p.A1698A 0.95 0.82 0.99 1. 1. 1. 0.9838 0.8267 0.9909 1 1 0.9995 0.9939 0.9995 0.94 0.83 1. 0.97 0.75 rs7986595 COSM4147570 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9867 0.8162 0.9911 0.9944 1 1 0.9996 0.9910 0.9989 0.9504 0.8265 0.9916 0.9934 1 1 0.9997 0.9908 hom 377.65 14 13 109793720 . A C 377.65 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.98;VQSLOD=12.6587;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:36.08:411,36,0 13 110839550 110839550 T G exonic COL4A1 nonsynonymous SNV COL4A1:NM_001845:exon25:c.A1663C:p.T555P 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs536174 COSM4590149 23(upper_aerodigestive_tract) Benign|Benign|Benign|Benign not_specified|Angiopathy\x2c_hereditary\x2c_with_nephropathy\x2c_aneurysms\x2c_and_muscle_cramps|Porencephaly|Brain_small_vessel_disease_with_hemorrhage RCV000245629.2|RCV000299532.1|RCV000359055.1|RCV000391710.1 MedGen:OMIM C1843512:607595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 4186.88 121 13 110839550 . T G 4186.88 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7898;MQ=59.81;MQ0=0;QD=34.60;VQSLOD=9.0099;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:4186,328,0 13 110850842 110850842 A G exonic COL4A1 synonymous SNV COL4A1:NM_001303110:exon21:c.T1257C:p.P419P,COL4A1:NM_001845:exon21:c.T1257C:p.P419P 0.21 0.21 0.37 0.055 0.27 0.18 0.2589 0.2263 0.3374 0.0434 0.3344 0.2792 0.2494 0.2257 0.25 0.22 0.27 0.21 0.33 rs995224 COSM4827913;COSM4827912 1(cervix) Benign|Benign|Benign|Benign not_specified|Angiopathy\x2c_hereditary\x2c_with_nephropathy\x2c_aneurysms\x2c_and_muscle_cramps|Brain_small_vessel_disease_with_hemorrhage|Porencephaly RCV000253414.1|RCV000295386.1|RCV000336377.1|RCV000397017.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2608 0.2212 0.3331 0.2408 0.0451 0.3287 0.2760 0.2673 0.2234 0.2637 0.2214 0.3397 0.22 0.0450 0.3242 0.2928 0.2900 het 1189.98 65 13 110850842 . A G 1189.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.480;DP=65;Dels=0.00;FS=1.000;HRun=4;HaplotypeScore=1.6208;MQ=59.65;MQ0=0;MQRankSum=-1.732;QD=18.31;ReadPosRankSum=0.821;VQSLOD=4.4745;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,44:65:99:1220,0,540 13 110864225 110864225 A T exonic COL4A1 synonymous SNV COL4A1:NM_001303110:exon7:c.T432A:p.A144A,COL4A1:NM_001845:exon7:c.T432A:p.A144A 0.47 0.36 0.38 0.54 0.45 0.64 0.4672 0.3676 0.3934 0.5009 0.4082 0.4667 0.4912 0.5885 0.44 0.38 0.47 0.42 0.5 rs532625 COSM3753575;COSM3753576 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign|Benign not_specified|Angiopathy\x2c_hereditary\x2c_with_nephropathy\x2c_aneurysms\x2c_and_muscle_cramps|Porencephaly|Brain_small_vessel_disease_with_hemorrhage RCV000248410.1|RCV000294435.1|RCV000333020.1|RCV000389866.1 MedGen:OMIM C1843512:607595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4669 0.3692 0.4046 0.5277 0.4967 0.4137 0.4657 0.4621 0.5909 0.4223 0.3662 0.3918 0.5563 0.4894 0.4179 0.4454 0.4570 het 2937.20 247 13 110864225 . A T 2937.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.349;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1311;MQ=59.05;MQ0=0;MQRankSum=-1.641;QD=11.89;ReadPosRankSum=-0.555;VQSLOD=5.1778;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:125,122:247:99:2967,0,3264 13 111077197 111077197 G A exonic COL4A2 synonymous SNV COL4A2:NM_001846:exon5:c.G297A:p.T99T 0.94 0.84 0.97 1. 0.96 0.98 0.9614 0.8557 0.9840 0.9999 0.9844 0.9632 0.9744 0.9707 0.93 0.87 0.96 0.89 0.91 rs4238272 . . Benign Porencephaly RCV000325831.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9643 0.8538 0.9808 0.9812 0.9999 0.9852 0.9610 0.9728 0.9716 0.9382 0.8584 0.9737 0.9735 0.9988 0.9880 0.9616 0.9725 hom 2435.74 76 13 111077197 . G A 2435.74 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4303;MQ=59.70;MQ0=0;QD=32.05;VQSLOD=8.8157;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:76:99:2469,193,0 13 111082772 111082772 G T exonic COL4A2 nonsynonymous SNV COL4A2:NM_001846:exon9:c.G574T:p.V192F 0.009 0.0015 0.035 0.001 0.004 0.014 0.0095 0.0024 0.0364 0.0002 0.0009 0.0061 0.0044 0.0170 0.0057 0.0011 0.0077 . 0.025 rs62621885 . . Likely benign Porencephaly RCV000397389.1 . . . . . . . . 0.395 0.106 T 0.846 0.448 P 0.351 0.411 B 0.095 0.202 N 1 0.090 N 1.415 0.357 L -3.25 0.935 D -1.25 0.316 N 0.434 0.489 -0.383 0.726 T 0.310 0.680 T . . . 2.795 0.397 21.3 0.978 0.353 0.102 0.156 N c -0.288 -0.381 1.000 0.462 0.732 0.924 0 3.1 0.346 0.363 0.199 0.953 0.551 0.004 0.165 0.937 0.410 6.417 0.208 . . . 0.0103 0.0022 0.0331 0.0007 0.0002 0.0006 0.0072 0.0088 0.0163 0.0049 0.0022 0.0203 0 0.0006 0.0011 0.0071 0.0041 het 402.50 57 13 111082772 . G T 402.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.697;DP=57;Dels=0.00;FS=1.052;HRun=1;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=0.538;QD=7.06;ReadPosRankSum=1.216;VQSLOD=4.7264;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,21:57:99:432,0,975 13 111154058 111154058 T A exonic COL4A2 synonymous SNV COL4A2:NM_001846:exon41:c.T3804A:p.P1268P 0.94 0.78 0.99 1. 1. 1. 0.9839 0.8223 0.9923 0.9999 0.9997 0.9986 0.9933 0.9996 0.95 0.84 1. 0.98 0.98 rs439831 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9863 0.8192 0.9914 0.9834 1 1.0000 0.9993 0.9921 0.9996 0.9470 0.8150 0.9845 0.9901 1 1 0.9994 0.9898 hom 2517.05 76 13 111154058 . T A 2517.05 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.37;MQ0=0;QD=33.12;VQSLOD=9.1422;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2550,199,0 13 111154061 111154061 T C exonic COL4A2 synonymous SNV COL4A2:NM_001846:exon41:c.T3807C:p.G1269G 0.94 0.78 0.99 1. 1. 1. 0.9839 0.8223 0.9923 0.9999 0.9997 0.9986 0.9933 0.9996 0.95 0.84 1. 0.98 0.98 rs409858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9863 0.8191 0.9914 0.9834 1 1.0000 0.9993 0.9921 0.9996 0.9469 0.8149 0.9845 0.9901 1 1 0.9994 0.9898 hom 2551.93 74 13 111154061 . T C 2551.93 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.35;MQ0=0;QD=34.49;VQSLOD=9.9332;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2585,202,0 13 111156499 111156499 C T exonic COL4A2 synonymous SNV COL4A2:NM_001846:exon45:c.C4290T:p.F1430F 0.94 0.77 0.98 1. 1. 1. 0.9833 0.8146 0.9921 0.9999 0.9997 0.9986 0.9933 0.9994 0.95 0.83 1. 0.94 0.93 rs4771683 COSM4147578 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9858 0.8128 0.9908 0.9834 1 1.0000 0.9993 0.9920 0.9992 0.9454 0.8102 0.9857 0.9901 1 1 0.9993 0.9898 hom 3113.70 100 13 111156499 . C T 3113.70 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6200;MQ=60.00;MQ0=0;QD=31.14;VQSLOD=8.5310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3147,250,0 13 111158874 111158874 A G exonic COL4A2 synonymous SNV COL4A2:NM_001846:exon46:c.A4515G:p.P1505P 0.75 0.76 0.82 0.56 0.89 0.74 0.8329 0.7818 0.7612 0.5860 0.8240 0.8971 0.8616 0.7820 0.87 0.8 0.91 0.81 0.84 rs445348 . . Benign Porencephaly RCV000387441.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8289 0.7831 0.7691 0.8879 0.5760 0.8147 0.9011 0.8590 0.7835 0.8339 0.7793 0.7859 0.8477 0.5767 0.8103 0.9002 0.8483 het 291.53 34 13 111158874 . A G 291.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.117;DP=34;Dels=0.00;FS=3.051;HRun=1;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;MQRankSum=-0.542;QD=8.57;ReadPosRankSum=-0.542;VQSLOD=6.0669;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,14:34:99:322,0,570 13 111176393 111176393 A G exonic RAB20 synonymous SNV RAB20:NM_017817:exon2:c.T324C:p.F108F 0.85 0.72 0.87 0.96 0.85 0.91 0.8548 0.7468 0.9246 0.9509 0.8547 0.8334 0.8543 0.9096 0.81 0.76 0.84 0.75 0.83 rs419244 COSM3765675;COSM3765676 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8596 0.7404 0.9144 0.8487 0.9508 0.8560 0.8338 0.8540 0.9083 0.8193 0.7344 0.9125 0.8576 0.9464 0.8591 0.8376 0.8510 hom 4628.80 155 13 111176393 . A G 4628.80 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.13;MQ0=0;QD=29.86;VQSLOD=9.2870;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4628,379,0 13 111298392 111298392 A G exonic CARS2 synonymous SNV CARS2:NM_024537:exon12:c.T1239C:p.D413D 0.47 0.62 0.53 0.42 0.31 0.45 0.3964 0.5935 0.6313 0.4062 0.3225 0.3224 0.4073 0.4304 0.41 0.58 0.32 0.45 0.28 rs436462 COSM3753581 1(large_intestine) Benign not_specified RCV000420207.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4018 0.5974 0.6198 0.4261 0.4095 0.3255 0.3157 0.3839 0.4259 0.4065 0.5967 0.5853 0.4338 0.4151 0.3282 0.3060 0.3548 het 1677.55 140 13 111298392 . A G 1677.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.496;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4304;MQ=60.00;MQ0=0;MQRankSum=0.344;QD=11.98;ReadPosRankSum=0.552;VQSLOD=5.9843;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,68:140:99:1708,0,1885 13 111319754 111319754 T C exonic CARS2 synonymous SNV CARS2:NM_024537:exon8:c.A852G:p.E284E 0.76 0.63 0.68 0.83 0.86 0.82 0.8022 0.6590 0.5538 0.8461 0.8724 0.8480 0.8238 0.8291 0.77 0.66 0.83 0.75 0.8 rs4628819 . . Benign not_specified RCV000441388.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7955 0.6513 0.5731 0.8001 0.8469 0.8702 0.8479 0.8087 0.8321 0.7892 0.6535 0.6038 0.8179 0.8391 0.8595 0.8520 0.8523 het 1791.72 132 13 111319754 . T C 1791.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.722;DP=132;Dels=0.00;FS=0.642;HRun=0;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;MQRankSum=1.625;QD=13.57;ReadPosRankSum=-0.642;VQSLOD=5.9317;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,65:132:99:1822,0,1805 13 111340342 111340342 G A exonic CARS2 synonymous SNV CARS2:NM_024537:exon4:c.C417T:p.L139L 0.15 0.015 0.22 0.12 0.33 0.12 0.2530 0.0601 0.1541 0.1146 0.3154 0.3352 0.2715 0.1542 0.24 0.068 0.33 0.12 0.32 rs2304767 . . Benign not_specified RCV000428508.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2484 0.0562 0.1605 0.2207 0.1105 0.3136 0.3370 0.2644 0.1558 0.2349 0.0632 0.1659 0.2318 0.1204 0.3154 0.3281 0.3047 het 791.78 46 13 111340342 . G A 791.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.819;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=0.000;QD=17.21;ReadPosRankSum=0.660;VQSLOD=7.3334;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,29:46:99:822,0,423 13 111368316 111368316 C T exonic ING1 synonymous SNV ING1:NM_005537:exon1:c.C526T:p.L176L 0.58 0.23 0.68 0.73 0.69 0.72 0.6955 0.3043 0.7562 0.7407 0.6592 0.7250 0.6873 0.7261 0.63 0.39 0.75 0.48 0.63 rs9555726 COSM3749238 2(thyroid);15(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6892 0.2877 0.7332 0.6468 0.7304 0.6582 0.7302 0.6978 0.7182 0.5971 0.2957 0.7122 0.65 0.7370 0.6587 0.7312 0.6629 het 178.57 23 13 111368316 . C T 178.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.346;DP=23;Dels=0.00;FS=1.674;HRun=1;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;MQRankSum=0.220;QD=7.76;ReadPosRankSum=-0.220;VQSLOD=5.8175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,9:23:99:209,0,447 13 113052388 113052388 A G exonic SPACA7 synonymous SNV SPACA7:NM_145248:exon3:c.A177G:p.L59L 0.67 0.82 0.62 0.62 0.57 0.68 0.6307 0.7893 0.6692 0.6285 0.6140 0.5844 0.5936 0.7010 0.66 0.79 0.59 0.74 0.5 rs2296895 COSM1179756 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6259 0.7929 0.6643 0.5546 0.6271 0.6120 0.5824 0.5908 0.6975 0.6609 0.7875 0.6361 0.5563 0.6383 0.6186 0.6045 0.6380 hom 8038.64 250 13 113052388 . A G 8038.64 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1706;MQ=57.39;MQ0=1;QD=32.15;VQSLOD=6.4315;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8038,614,0 13 113053470 113053470 T A exonic SPACA7 nonsynonymous SNV SPACA7:NM_145248:exon4:c.T332A:p.V111D 0.67 0.79 0.61 0.62 0.57 0.68 0.6411 0.7781 0.6714 0.6258 0.6241 0.6029 0.6018 0.7048 0.66 0.78 0.6 0.73 0.47 rs10816 COSM1179757 1(prostate) . . . . . . . . . . . 0.733 0.069 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.695 0.019 N 1.06 0.398 T 4.56 0.000 N 0.062 0.454 -0.975 0.361 T 0.000 0.000 T . . . -0.385 0.063 0.421 0.278 0.014 0.000 0.002 N c -1.443 -1.448 0.000 0.050 0.487 0.133 0 0.446 0.157 -0.213 0.092 -0.194 0.103 0.000 0.063 0.000 0.016 0.529 0.006 . ENSG00000153498.7 Testis 0.6366 0.7823 0.6689 0.5698 0.6263 0.6222 0.6008 0.5988 0.7027 0.6699 0.7832 0.6475 0.5733 0.6383 0.6274 0.6221 0.6477 hom 1402.73 53 13 113053470 . T A 1402.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.880;DP=53;Dels=0.00;FS=10.263;HRun=0;HaplotypeScore=3.8816;MQ=59.56;MQ0=0;MQRankSum=0.833;QD=26.47;ReadPosRankSum=1.071;VQSLOD=2.1962;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,50:53:66.44:1436,66,0 13 113479820 113479820 A G exonic ATP11A nonsynonymous SNV ATP11A:NM_015205:exon11:c.A949G:p.M317V,ATP11A:NM_032189:exon11:c.A949G:p.M317V 0.84 0.99 0.85 0.87 0.74 0.72 0.7648 0.9561 0.8082 0.8455 0.7027 0.7355 0.7522 0.7157 0.8 0.94 0.72 0.9 0.69 rs368865 COSM3999026;COSM147717 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.411 N 1.000 0.186 P -2.415 0.001 N -2.43 0.887 D 1.13 0.012 N 0.299 0.359 -0.945 0.419 T 0.000 0.000 T . . . 0.156 0.109 4.215 0.398 0.027 0.236 0.219 N c -0.835 -0.525 1.000 0.500 0.732 0.924 0 5.14 0.699 3.161 0.502 0.076 0.183 0.993 0.376 0.949 0.424 10.121 0.416 P-type ATPase\x2c A domain . . 0.7621 0.9590 0.8093 0.8018 0.8411 0.7025 0.7307 0.7635 0.7123 0.7959 0.9554 0.8282 0.8179 0.8496 0.6947 0.7218 0.7444 hom 4365.48 136 13 113479820 . A G 4365.48 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.56;MQ0=0;QD=32.10;VQSLOD=9.9425;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4365,349,0 13 113508839 113508839 G C exonic ATP11A synonymous SNV ATP11A:NM_015205:exon19:c.G2238C:p.L746L,ATP11A:NM_032189:exon19:c.G2238C:p.L746L 0.7 0.96 0.73 0.66 0.6 0.45 0.6343 0.9237 0.6894 0.6711 0.6310 0.6194 0.6036 0.4610 0.72 0.92 0.62 0.75 0.52 rs9549573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6327 0.9297 0.6961 0.6215 0.6691 0.6268 0.6189 0.6317 0.4545 0.7136 0.9213 0.7153 0.6175 0.7066 0.6190 0.6217 0.6405 het 1094.19 81 13 113508839 . G C 1094.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8833;MQ=58.76;MQ0=0;MQRankSum=0.120;QD=13.51;ReadPosRankSum=1.400;VQSLOD=5.1331;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,41:81:99:1124,0,1016 13 113527967 113527967 G A exonic ATP11A synonymous SNV ATP11A:NM_015205:exon27:c.G3138A:p.S1046S,ATP11A:NM_032189:exon27:c.G3138A:p.S1046S 0.37 0.3 0.38 0.47 0.37 0.38 0.3836 0.3119 0.3966 0.4578 0.3319 0.3894 0.3899 0.3779 0.36 0.31 0.39 0.3 0.35 rs1320525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3843 0.3094 0.4021 0.4136 0.4536 0.3233 0.3899 0.3920 0.3769 0.3538 0.3092 0.4105 0.4702 0.4413 0.3243 0.3723 0.3432 hom 2207.16 81 13 113527967 . G A 2207.16 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.689;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.72;MQ0=0;MQRankSum=-1.604;QD=27.25;ReadPosRankSum=1.304;VQSLOD=6.9932;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,80:81:99:2240,177,0 13 113536132 113536132 T C exonic ATP11A synonymous SNV ATP11A:NM_032189:exon29:c.T3330C:p.N1110N 0.56 0.58 0.51 0.64 0.5 0.58 0.5311 0.5781 0.5180 0.5852 0.4563 0.5184 0.5277 0.5641 0.54 0.57 0.52 0.48 0.45 rs1290177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5265 0.5736 0.5178 0.4835 0.5870 0.4500 0.5233 0.5106 0.5619 0.5316 0.5732 0.5359 0.5464 0.5800 0.4564 0.5224 0.4847 hom 3048.38 99 13 113536132 . T C 3048.38 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=59.77;MQ0=0;QD=30.79;VQSLOD=9.2522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3081,250,0 13 113733009 113733009 C T exonic MCF2L synonymous SNV MCF2L:NM_001112732:exon15:c.C1764T:p.R588R,MCF2L:NM_001320815:exon15:c.C1758T:p.R586R,MCF2L:NM_001320816:exon15:c.C1776T:p.R592R,MCF2L:NM_001320817:exon15:c.C1758T:p.R586R,MCF2L:NM_024979:exon15:c.C1758T:p.R586R 0.064 0.065 0.072 0.005 0.1 0.08 0.0997 0.0952 0.0754 0.0016 0.1215 0.1201 0.1086 0.0814 0.095 0.074 0.11 0.054 0.041 rs35155188 COSM3753592;COSM3753589;COSM3753588;COSM3753590;COSM3753591 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0849 0.0825 0.0675 0.1320 0.0017 0.0862 0.1017 0.0955 0.0735 0.0904 0.0910 0.0811 0.1424 0 0.0930 0.0995 0.0776 het 320.18 29 13 113733009 . C T 320.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.364;DP=29;Dels=0.00;FS=1.569;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=0.024;QD=11.04;ReadPosRankSum=-1.626;VQSLOD=5.3856;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,14:29:99:350,0,285 13 113741590 113741590 G A exonic MCF2L synonymous SNV MCF2L:NM_001112732:exon22:c.G2415A:p.S805S,MCF2L:NM_001320815:exon22:c.G2409A:p.S803S,MCF2L:NM_001320816:exon22:c.G2427A:p.S809S,MCF2L:NM_001320817:exon22:c.G2409A:p.S803S,MCF2L:NM_024979:exon22:c.G2409A:p.S803S 0.16 0.25 0.13 0.005 0.16 0.24 0.1567 0.2201 0.0850 0.0044 0.0770 0.1661 0.1477 0.2415 0.18 0.22 0.17 0.17 0.25 rs9604022 COSM5618853;COSM5618852;COSM5618855;COSM5618854;COSM5618851 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1506 0.2125 0.0928 0.2187 0.0045 0.0787 0.1647 0.1605 0.2423 0.1476 0.2129 0.1289 0.2285 0.0037 0.0759 0.1425 0.1306 het 1597.08 104 13 113741590 . G A 1597.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.271;DP=104;Dels=0.00;FS=0.755;HRun=0;HaplotypeScore=0.8321;MQ=59.42;MQ0=0;MQRankSum=0.231;QD=15.36;ReadPosRankSum=0.157;VQSLOD=6.6721;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,64:104:99:1627,0,924 13 113801737 113801737 C T exonic F10 synonymous SNV F10:NM_001312674:exon6:c.C660T:p.T220T,F10:NM_000504:exon7:c.C792T:p.T264T,F10:NM_001312675:exon7:c.C792T:p.T264T 0.62 0.45 0.67 0.52 0.86 0.68 0.7597 0.4944 0.6213 0.5002 0.8209 0.8658 0.8167 0.7029 0.74 0.5 0.86 0.53 0.84 rs5960 COSM147720 1(stomach) Benign|Benign not_specified|Factor_X_deficiency RCV000251014.1|RCV000374626.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0015519:227600:76642003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7597 0.4868 0.6330 0.8879 0.4932 0.8241 0.8642 0.7976 0.7089 0.7184 0.4995 0.6806 0.8874 0.4758 0.8137 0.8446 0.7694 hom 2443.22 78 13 113801737 . C T 2443.22 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=58.07;MQ0=0;QD=31.32;VQSLOD=8.6446;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2476,196,0 13 113818900 113818900 A G exonic PROZ synonymous SNV PROZ:NM_003891:exon5:c.A447G:p.T149T,PROZ:NM_001256134:exon6:c.A513G:p.T171T 0.95 0.82 0.97 1. 1. 1. 0.9845 0.8357 0.9917 1 1 0.9991 0.9912 0.9995 0.95 0.84 1. 0.91 0.98 rs564081 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9873 0.8283 0.9914 0.9957 0.9999 1 0.9991 0.9929 0.9995 0.9527 0.8359 0.9892 0.9901 1 1 0.9994 0.9918 hom 3763.87 124 13 113818900 . A G 3763.87 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8653;MQ=60.55;MQ0=0;QD=30.35;VQSLOD=6.9527;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3763,307,0 13 113965176 113965176 C A exonic LAMP1 synonymous SNV LAMP1:NM_005561:exon4:c.C556A:p.R186R 0.98 0.93 0.99 1. 1. 1. 0.9916 0.9148 0.9940 1 1 0.9988 0.9967 0.9997 0.98 0.95 1. 0.89 0.98 rs9577503 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9928 0.9107 0.9933 0.9971 1 1 0.9990 0.9951 0.9997 0.9753 0.9157 0.9905 1 1 1 0.9989 0.9928 hom 3459.64 110 13 113965176 . C A 3459.64 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=31.45;VQSLOD=9.8729;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3459,265,0 13 114112389 114112389 T C exonic DCUN1D2 synonymous SNV DCUN1D2:NM_001014283:exon7:c.A735G:p.E245E 0.037 0.0015 0.01 0.12 0.029 0.024 0.0346 0.0048 0.0080 0.1337 0.0513 0.0317 0.0352 0.0249 0.017 0.0054 0.023 0.054 0.016 rs41286638 COSM147723 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0330 0.0046 0.0079 0.0084 0.1325 0.0560 0.0291 0.0289 0.0246 0.0326 0.0047 0.0131 0.0033 0.1262 0.0584 0.0341 0.0387 het 3190.44 249 13 114112389 . T C 3190.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.370;DP=249;DS;Dels=0.00;FS=1.668;HRun=0;HaplotypeScore=6.7702;MQ=58.68;MQ0=0;MQRankSum=1.184;QD=12.81;ReadPosRankSum=-2.495;VQSLOD=3.6683;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:132,117:249:99:3220,0,3720 13 114156093 114156093 C T exonic TMCO3 synonymous SNV TMCO3:NM_001349742:exon4:c.C651T:p.S217S,TMCO3:NM_001349743:exon4:c.C651T:p.S217S,TMCO3:NM_001349745:exon4:c.C651T:p.S217S,TMCO3:NM_001349741:exon5:c.C843T:p.S281S,TMCO3:NM_001349744:exon5:c.C843T:p.S281S,TMCO3:NM_001349746:exon5:c.C843T:p.S281S,TMCO3:NM_017905:exon5:c.C843T:p.S281S 0.24 0.41 0.15 0.27 0.16 0.13 0.1700 0.3521 0.0944 0.2939 0.1376 0.1512 0.1744 0.1318 0.22 0.35 0.15 0.28 0.15 rs2260080 COSM147724 1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1637 0.3584 0.1029 0.2171 0.2950 0.1395 0.1430 0.1819 0.1319 0.2098 0.3559 0.1110 0.2351 0.2966 0.1397 0.1401 0.1609 het 4132.24 244 13 114156093 . C T 4132.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.328;DP=244;DS;Dels=0.00;FS=0.500;HRun=2;HaplotypeScore=4.4644;MQ=59.75;MQ0=0;MQRankSum=-0.106;QD=16.94;ReadPosRankSum=0.121;VQSLOD=5.4312;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,120:244:99:3482,0,3532 13 114157846 114157846 G A exonic TMCO3 synonymous SNV TMCO3:NM_001349742:exon5:c.G789A:p.G263G,TMCO3:NM_001349743:exon5:c.G789A:p.G263G,TMCO3:NM_001349745:exon5:c.G789A:p.G263G,TMCO3:NM_001349741:exon6:c.G981A:p.G327G,TMCO3:NM_001349744:exon6:c.G981A:p.G327G,TMCO3:NM_001349746:exon6:c.G981A:p.G327G,TMCO3:NM_017905:exon6:c.G981A:p.G327G 0.075 0.08 0.071 0.001 0.15 0.075 0.0950 0.0726 0.0518 0.0043 0.1196 0.1188 0.1167 0.0797 0.1 0.068 0.12 0.033 0.049 rs9805588 COSM3753598 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0934 0.0731 0.0519 0.0965 0.0036 0.1157 0.1224 0.0989 0.0762 0.0997 0.0723 0.0730 0.1026 0.0031 0.1228 0.1211 0.1130 het 1340.37 116 13 114157846 . G A 1340.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.679;DP=116;Dels=0.00;FS=3.425;HRun=0;HaplotypeScore=3.9475;MQ=59.02;MQ0=0;MQRankSum=-1.585;QD=11.55;ReadPosRankSum=0.469;VQSLOD=4.6044;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,52:116:99:1370,0,1678 13 114175004 114175004 C T exonic TMCO3 synonymous SNV TMCO3:NM_001349742:exon7:c.C1107T:p.A369A,TMCO3:NM_001349745:exon7:c.C1107T:p.A369A,TMCO3:NM_001349741:exon8:c.C1299T:p.A433A,TMCO3:NM_001349744:exon8:c.C1299T:p.A433A,TMCO3:NM_017905:exon8:c.C1299T:p.A433A 0.24 0.42 0.15 0.27 0.16 0.13 0.1704 0.3598 0.0945 0.2981 0.1374 0.1501 0.1740 0.1325 0.22 0.35 0.15 0.28 0.17 rs2260334 COSM3999033 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1637 0.3656 0.1026 0.2024 0.2987 0.1397 0.1426 0.1813 0.1328 0.2110 0.3606 0.1110 0.22 0.2995 0.1397 0.1400 0.1578 het 1539.03 119 13 114175004 . C T 1539.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.455;DP=119;Dels=0.00;FS=5.945;HRun=0;HaplotypeScore=4.6103;MQ=58.53;MQ0=0;MQRankSum=0.871;QD=12.93;ReadPosRankSum=0.093;VQSLOD=5.0853;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,55:119:99:1569,0,1519 13 114309226 114309226 G A exonic ATP4B synonymous SNV ATP4B:NM_000705:exon2:c.C144T:p.Y48Y 0.47 0.32 0.44 0.6 0.46 0.58 0.4760 0.3015 0.5418 0.6406 0.5951 0.4348 0.5088 0.5708 0.39 0.3 0.44 0.43 0.4 rs11164142 COSM4147615 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4812 0.3016 0.5328 0.3239 0.6422 0.5987 0.4342 0.4495 0.5653 0.4324 0.2923 0.5264 0.31 0.6470 0.5828 0.4477 0.5133 het 1210.93 103 13 114309226 . G A 1210.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.966;DP=103;Dels=0.00;FS=1.580;HRun=0;HaplotypeScore=0.9967;MQ=58.92;MQ0=0;MQRankSum=-0.841;QD=11.76;ReadPosRankSum=-0.953;VQSLOD=6.1868;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,51:103:99:1241,0,1376 13 114312354 114312354 T G exonic ATP4B synonymous SNV ATP4B:NM_000705:exon1:c.A106C:p.R36R 1. 1. 1. 1. 1. 1. 0.9998 0.9998 0.9998 1 1 0.9999 1 0.9995 1. 1. 1. 0.96 0.61 rs9285616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9999 0.9998 1 1 1 0.9999 0.9998 0.9995 1.0000 0.9999 1 1 1 1 1 1 hom 632.69 21 13 114312354 . T G 632.69 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=30.13;VQSLOD=7.6616;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.16:666,57,0 13 114322289 114322289 A G exonic GRK1 synonymous SNV GRK1:NM_002929:exon1:c.A588G:p.L196L 0.72 0.86 0.66 0.66 0.68 0.69 0.6908 0.8373 0.6850 0.6747 0.7735 0.6651 0.7125 0.6870 0.71 0.82 0.65 0.85 . rs9796035 COSM3753601 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6753 0.8347 0.6693 0.6230 0.6631 0.7573 0.6467 0.6671 0.6737 0.7150 0.8268 0.6842 0.5960 0.6716 0.7427 0.6524 0.7133 het 202.51 28 13 114322289 . A G 202.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DP=28;Dels=0.00;FS=7.156;HRun=3;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=0.984;QD=7.23;ReadPosRankSum=-0.935;VQSLOD=3.0153;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,9:28:99:233,0,560 13 114780764 114780764 A G exonic RASA3 synonymous SNV RASA3:NM_001320822:exon14:c.T1230C:p.T410T,RASA3:NM_007368:exon14:c.T1326C:p.T442T,RASA3:NM_001320821:exon16:c.T177C:p.T59T 0.73 0.92 0.66 0.66 0.65 0.67 0.6624 0.8765 0.5872 0.6714 0.6357 0.6435 0.6889 0.6614 0.71 0.86 0.63 0.8 0.56 rs2274717 COSM4147619 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6549 0.8786 0.5929 0.7043 0.6672 0.6356 0.6384 0.6630 0.6610 0.6967 0.8710 0.6130 0.7053 0.6524 0.6268 0.6258 0.6184 het 2116.39 213 13 114780764 . A G 2116.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.707;DP=213;Dels=0.00;FS=1.700;HRun=1;HaplotypeScore=4.4873;MQ=59.71;MQ0=0;MQRankSum=0.969;QD=9.94;ReadPosRankSum=-1.212;VQSLOD=5.2764;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,88:213:99:2146,0,3513 13 114782779 114782779 G A exonic RASA3 synonymous SNV RASA3:NM_001320822:exon12:c.C1044T:p.I348I,RASA3:NM_007368:exon12:c.C1140T:p.I380I 0.065 0.02 0.066 0.001 0.16 0.097 0.1068 0.0263 0.0500 0.0002 0.1616 0.1367 0.1222 0.1096 0.1 0.026 0.14 0.033 0.09 rs61749934 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1102 0.0275 0.0612 0.2039 0.0003 0.1704 0.1319 0.1229 0.1112 0.1022 0.0298 0.0895 0.1987 0 0.1637 0.1378 0.1334 het 4032.45 234 13 114782779 . G A 4032.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.119;DP=234;DS;Dels=0.00;FS=1.687;HRun=1;HaplotypeScore=7.9474;MQ=58.32;MQ0=0;MQRankSum=1.177;QD=17.23;ReadPosRankSum=-0.991;VQSLOD=3.0657;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,121:234:99:3405,0,2993 13 115002305 115002305 G A exonic CDC16 synonymous SNV CDC16:NM_001078645:exon3:c.G135A:p.Q45Q,CDC16:NM_001318517:exon3:c.G132A:p.Q44Q,CDC16:NM_001318518:exon3:c.G132A:p.Q44Q,CDC16:NM_001330101:exon3:c.G132A:p.Q44Q,CDC16:NM_003903:exon3:c.G135A:p.Q45Q 0.34 0.58 0.28 0.16 0.26 0.34 0.2685 0.5204 0.3002 0.1534 0.2298 0.2319 0.2467 0.3127 0.33 0.52 0.23 0.43 0.25 rs8002514 COSM3753604 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2643 0.5229 0.2994 0.2367 0.1506 0.2370 0.2307 0.2631 0.3131 0.3140 0.5183 0.3122 0.2267 0.1504 0.2398 0.2350 0.2638 het 1832.29 163 13 115002305 . G A 1832.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.225;DP=163;Dels=0.00;FS=0.593;HRun=1;HaplotypeScore=6.0899;MQ=59.22;MQ0=0;MQRankSum=-0.568;QD=11.24;ReadPosRankSum=1.310;VQSLOD=4.4288;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,75:163:99:1862,0,2214 13 115004914 115004914 C T exonic CDC16 synonymous SNV CDC16:NM_001330104:exon4:c.C48T:p.D16D,CDC16:NM_001330105:exon4:c.C48T:p.D16D,CDC16:NM_001078645:exon5:c.C330T:p.D110D,CDC16:NM_001318517:exon5:c.C327T:p.D109D,CDC16:NM_001318518:exon5:c.C327T:p.D109D,CDC16:NM_001330101:exon5:c.C327T:p.D109D,CDC16:NM_003903:exon5:c.C330T:p.D110D 0.44 0.85 0.35 0.2 0.32 0.34 0.3299 0.7615 0.3451 0.1881 0.2508 0.2880 0.2991 0.3248 0.44 0.75 0.28 0.62 0.25 rs2296971 COSM3999035 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3213 0.7683 0.3491 0.3092 0.1845 0.2549 0.2858 0.3302 0.3248 0.4088 0.7534 0.3723 0.2881 0.1960 0.2603 0.2773 0.3075 het 726.16 56 13 115004914 . C T 726.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.378;DP=56;Dels=0.00;FS=2.207;HRun=0;HaplotypeScore=0.9665;MQ=59.00;MQ0=0;MQRankSum=1.804;QD=12.97;ReadPosRankSum=0.115;VQSLOD=6.3232;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,27:56:99:756,0,751 13 115004935 115004935 T C exonic CDC16 synonymous SNV CDC16:NM_001330104:exon4:c.T69C:p.P23P,CDC16:NM_001330105:exon4:c.T69C:p.P23P,CDC16:NM_001078645:exon5:c.T351C:p.P117P,CDC16:NM_001318517:exon5:c.T348C:p.P116P,CDC16:NM_001318518:exon5:c.T348C:p.P116P,CDC16:NM_001330101:exon5:c.T348C:p.P116P,CDC16:NM_003903:exon5:c.T351C:p.P117P 0.44 0.84 0.35 0.2 0.32 0.34 0.3295 0.7546 0.3448 0.1879 0.2511 0.2879 0.2982 0.3255 0.44 0.74 0.28 0.62 0.24 rs2296970 COSM3999036 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3207 0.7610 0.3485 0.3087 0.1842 0.2548 0.2857 0.3297 0.3246 0.4064 0.7460 0.3720 0.2881 0.1955 0.2602 0.2768 0.3075 het 742.95 62 13 115004935 . T C 742.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DP=62;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;MQRankSum=1.453;QD=11.98;ReadPosRankSum=0.790;VQSLOD=6.9056;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,29:62:99:773,0,901 13 115030714 115030714 T C exonic CDC16 synonymous SNV CDC16:NM_001318518:exon16:c.T1446C:p.I482I,CDC16:NM_001330104:exon16:c.T1320C:p.I440I,CDC16:NM_001330105:exon16:c.T1320C:p.I440I,CDC16:NM_001078645:exon17:c.T1602C:p.I534I,CDC16:NM_001318517:exon17:c.T1599C:p.I533I,CDC16:NM_001330101:exon17:c.T1599C:p.I533I,CDC16:NM_003903:exon17:c.T1602C:p.I534I 0.37 0.69 0.29 0.16 0.26 0.34 0.2748 0.6091 0.3027 0.1534 0.2294 0.2299 0.25 0.3092 0.35 0.6 0.23 0.47 0.27 rs8809 COSM3753605 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2691 0.6100 0.3038 0.2355 0.1506 0.2367 0.2284 0.2656 0.3107 0.3358 0.6005 0.3138 0.2219 0.1512 0.2410 0.2323 0.2689 het 2658.32 200 13 115030714 . T C 2658.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.599;DP=200;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.10;MQ0=0;MQRankSum=0.730;QD=13.29;ReadPosRankSum=-0.551;VQSLOD=6.5067;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:93,107:200:99:2688,0,2538 14 20216298 20216298 T C exonic OR4Q3 nonsynonymous SNV OR4Q3:NM_172194:exon1:c.T712C:p.F238L 0.71 0.55 0.67 0.78 0.75 0.84 0.7286 0.5670 0.6512 0.7671 0.7724 0.7379 0.7412 0.8089 0.67 0.57 0.73 0.69 0.74 rs12896533 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.250 0.155 N 1.000 0.191 P -0.21 0.040 N 8.37 0.003 T 2.86 0.002 N 0.06 0.044 -0.956 0.400 T 0.000 0.000 T . . . -1.304 0.022 0.004 0.535 0.049 0.005 0.022 N c -1.199 -1.106 0.000 0.048 0.487 0.133 0 2.21 0.269 -0.949 0.040 0.059 0.165 0.000 0.063 0.044 0.160 6.617 0.218 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7297 0.5680 0.6576 0.7028 0.7696 0.7767 0.7399 0.7127 0.8073 0.6982 0.5659 0.6494 0.6533 0.7794 0.7865 0.7470 0.7326 het 1412.32 114 14 20216298 . T C 1412.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.101;DP=114;Dels=0.00;FS=1.530;HRun=1;HaplotypeScore=3.5686;MQ=59.31;MQ0=0;MQRankSum=1.118;QD=12.39;ReadPosRankSum=-1.835;VQSLOD=5.0204;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,52:114:99:1442,0,1738 14 20295834 20295834 T C exonic OR4N2 nonsynonymous SNV OR4N2:NM_001004723:exon2:c.T227C:p.I76T . . . . . . 0.4756 0.5729 0.4830 0.3988 0.4156 0.4519 0.4537 0.5708 0.48 0.56 0.44 0.27 0.5 rs2801164 COSM5958203 1(thyroid) . . . . . . . . . . . 0.153 0.243 T 0.006 0.126 B 0.018 0.173 B 0.000 0.491 D 0.993 0.238 P -0.38 0.030 N 6.89 0.005 T -1.7 0.600 N 0.21 0.397 -1.207 0.001 T 0.000 0.000 T . . . 0.973 0.187 10.51 0.967 0.301 0.176 0.197 N c -0.724 -0.524 0.080 0.158 0.487 0.133 0 4.3 0.504 0.058 0.141 0.110 0.204 0.000 0.063 0.999 0.750 11.704 0.507 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4708 0.5733 0.4733 0.5072 0.3964 0.4038 0.4489 0.4726 0.5724 0.4627 0.5632 0.4744 0.5102 0.3940 0.3990 0.4264 0.4316 hom 6935.41 238 14 20295834 . T C 6935.41 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.024;DP=238;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8039;MQ=48.91;MQ0=12;MQRankSum=1.578;QD=29.14;ReadPosRankSum=1.424;VQSLOD=2.9353;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:10,228:238:99:6913,532,0 14 20345346 20345346 A T exonic OR4K2 nonsynonymous SNV OR4K2:NM_001005501:exon1:c.A920T:p.N307I 0.28 0.22 0.28 0.12 0.47 0.31 0.3795 0.2754 0.2044 0.1018 0.4664 0.4632 0.3870 0.3319 0.33 0.22 0.38 0.27 0.43 rs12883767 COSM3753844 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.076 0.342 T 0.217 0.285 B 0.14 0.319 B 0.012 0.291 N 0.813 0.290 P 0.06 0.082 N 3.28 0.065 T -3.26 0.654 D 0.108 0.123 -0.961 0.391 T 0.000 0.000 T . . . 0.038 0.097 2.958 0.972 0.323 0.342 0.248 N c -0.659 -0.588 0.773 0.237 0.487 0.133 0 2.87 0.324 0.177 0.165 1.138 0.885 0.000 0.063 0.045 0.161 6.746 0.225 . . . 0.3663 0.2643 0.2177 0.4329 0.0964 0.4667 0.4649 0.3903 0.3111 0.3940 0.2811 0.2609 0.4069 0.1 0.4674 0.4806 0.4356 het 572.05 35 14 20345346 . A T 572.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.317;DP=35;Dels=0.00;FS=3.463;HRun=4;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.250;QD=16.34;ReadPosRankSum=1.517;VQSLOD=4.9056;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,20:35:99:602,0,360 14 20404091 20404091 G A exonic OR4K1 nonsynonymous SNV OR4K1:NM_001004063:exon1:c.G266A:p.R89H 0.32 0.33 0.26 0.27 0.34 0.39 0.3251 0.3465 0.2343 0.2650 0.3158 0.3409 0.3051 0.3472 0.34 0.34 0.34 0.36 0.39 rs12885778 COSM5479923 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.444 0.126 N 1 0.090 P 0.14 0.088 N 4.75 0.016 T 2.44 0.003 N 0.07 0.058 -0.962 0.388 T 0.000 0.000 T . . . -1.920 0.009 0.001 0.144 0.003 0.013 0.044 N c -1.557 -1.511 0.113 0.167 0.487 0.133 0 -0.184 0.126 -1.091 0.035 -0.123 0.113 0.000 0.063 0.724 0.315 8.714 0.334 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3174 0.3432 0.2402 0.3628 0.2624 0.3119 0.3384 0.3182 0.3345 0.3266 0.3424 0.2567 0.3889 0.2635 0.3152 0.3306 0.3084 het 1505.58 135 14 20404091 . G A 1505.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.603;DP=135;Dels=0.00;FS=4.189;HRun=0;HaplotypeScore=2.8793;MQ=59.31;MQ0=0;MQRankSum=0.338;QD=11.15;ReadPosRankSum=0.528;VQSLOD=5.7708;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,62:135:99:1536,0,2015 14 20404614 20404614 C A exonic OR4K1 nonsynonymous SNV OR4K1:NM_001004063:exon1:c.C789A:p.S263R 0.18 0.041 0.16 0.13 0.3 0.29 0.2384 0.0817 0.1160 0.1207 0.2931 0.2856 0.2357 0.2724 0.2 0.08 0.26 0.18 0.27 rs34608158 COSM5446822 1(large_intestine) . . . . . . . . . . . 0.029 0.457 D 0.095 0.239 B 0.111 0.300 B 0.001 0.394 N 1 0.090 P 2.745 0.805 M 8.36 0.003 T -3.11 0.636 D 0.287 0.346 -1.014 0.258 T 0.000 0.000 T . . . 3.609 0.491 23.2 0.990 0.488 0.072 0.131 N c -0.370 -0.344 0.231 0.185 0.487 0.133 0 2.23 0.271 -0.371 0.075 0.935 0.490 0.000 0.063 0.989 0.536 7.372 0.258 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2227 0.0691 0.1181 0.2860 0.1106 0.2824 0.2719 0.2393 0.2446 0.2115 0.0807 0.1451 0.3204 0.1354 0.2968 0.2765 0.25 het 829.52 79 14 20404614 . C A 829.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.673;DP=79;Dels=0.00;FS=1.880;HRun=1;HaplotypeScore=0.9989;MQ=58.51;MQ0=0;MQRankSum=0.418;QD=10.50;ReadPosRankSum=-0.247;VQSLOD=5.4372;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,34:79:99:860,0,1181 14 20404735 20404735 C T exonic OR4K1 nonsynonymous SNV OR4K1:NM_001004063:exon1:c.C910T:p.R304C 0.23 0.12 0.24 0.2 0.32 0.34 0.2827 0.1454 0.2157 0.1792 0.3068 0.3213 0.2729 0.3048 0.26 0.14 0.31 0.27 0.37 rs34394400 COSM5427682 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.01 0.564 D 0.986 0.596 D 0.359 0.413 B 0.250 0.155 N 1 0.090 P 2.045 0.562 M 1.33 0.350 T -3.75 0.711 D 0.099 0.101 -0.950 0.409 T 0.000 0.000 T . . . 3.379 0.464 22.9 0.988 0.458 0.069 0.127 N c -0.616 -0.770 0.355 0.197 0.487 0.133 0 0.607 0.167 0.344 0.196 -0.398 0.063 0.000 0.063 0.000 0.016 7.838 0.284 . . . 0.2725 0.1386 0.2177 0.3232 0.1741 0.2950 0.3129 0.2767 0.2818 0.2552 0.1427 0.2303 0.3741 0.1892 0.3069 0.3141 0.2786 het 720.42 61 14 20404735 . C T 720.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.719;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8393;MQ=58.07;MQ0=0;MQRankSum=2.590;QD=11.81;ReadPosRankSum=-0.830;VQSLOD=3.9803;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,30:61:99:750,0,800 14 20444193 20444193 A C exonic OR4K15 synonymous SNV OR4K15:NM_001005486:exon1:c.A516C:p.S172S 0.38 0.75 0.2 0.15 0.24 0.37 0.2958 0.6979 0.1664 0.1455 0.2287 0.2704 0.2511 0.3433 0.42 0.69 0.28 0.48 0.27 rs2318556 COSM3753847 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2809 0.7059 0.1750 0.2097 0.1455 0.2261 0.2754 0.2621 0.3467 0.3757 0.6895 0.2022 0.2252 0.1441 0.2282 0.2719 0.2705 het 2414.76 174 14 20444193 . A C 2414.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.948;DP=174;Dels=0.00;FS=3.538;HRun=1;HaplotypeScore=2.5645;MQ=56.83;MQ0=1;MQRankSum=0.876;QD=13.88;ReadPosRankSum=-0.305;VQSLOD=3.4025;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,90:174:99:2445,0,2185 14 20444441 20444441 C A exonic OR4K15 nonsynonymous SNV OR4K15:NM_001005486:exon1:c.C764A:p.A255E 0.22 0.2 0.17 0.12 0.22 0.35 0.2356 0.2137 0.1406 0.1238 0.1964 0.2536 0.2059 0.3185 0.25 0.23 0.27 0.17 0.26 rs10135246 . . . . . . . . . . . . . 0.174 0.225 T 0.199 0.279 B 0.093 0.286 B 0.004 0.348 N 1 0.090 P -0.605 0.022 N 8.9 0.000 T -1.22 0.309 N 0.127 0.144 -1.288 0.000 T 0.000 0.000 T . . . -0.109 0.084 1.661 0.602 0.063 0.006 0.026 N c -1.037 -1.024 0.003 0.101 0.487 0.133 0 2.06 0.258 0.549 0.229 0.735 0.307 0.000 0.063 0.162 0.208 7.336 0.256 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.2297 0.2160 0.1453 0.2012 0.1220 0.1938 0.2580 0.2247 0.3226 0.2244 0.2108 0.1639 0.2185 0.1233 0.1986 0.2516 0.2388 het 1388.09 101 14 20444441 . C A 1388.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.916;DP=101;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=55.16;MQ0=0;MQRankSum=-1.885;QD=13.74;ReadPosRankSum=1.240;VQSLOD=4.2160;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,50:101:99:1418,0,1503 14 20444490 20444490 C T exonic OR4K15 synonymous SNV OR4K15:NM_001005486:exon1:c.C813T:p.V271V 0.57 0.16 0.76 0.83 0.69 0.58 0.6478 0.2219 0.8031 0.8376 0.7274 0.6682 0.6921 0.5922 0.51 0.23 0.66 0.47 0.65 rs11158071 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6651 0.2154 0.7924 0.7123 0.8367 0.7308 0.6651 0.6791 0.5886 0.5651 0.2292 0.7722 0.7033 0.8458 0.7287 0.6715 0.6694 het 1428.80 102 14 20444490 . C T 1428.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.801;DP=102;Dels=0.00;FS=0.749;HRun=1;HaplotypeScore=2.8215;MQ=57.34;MQ0=0;MQRankSum=1.349;QD=14.01;ReadPosRankSum=3.089;VQSLOD=2.5956;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,50:102:99:1459,0,1356 14 20482471 20482471 C T exonic OR4K14 synonymous SNV OR4K14:NM_001004712:exon1:c.G882A:p.E294E 0.75 0.4 0.87 0.99 0.85 0.8 0.8188 0.4736 0.8842 0.9828 0.8880 0.8416 0.8488 0.7821 0.72 0.48 0.84 0.58 0.76 rs12590785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8278 0.4615 0.8741 0.8787 0.9854 0.8796 0.8385 0.8442 0.7761 0.7521 0.4713 0.8585 0.8676 0.9833 0.8811 0.8479 0.8106 hom 5166 176 14 20482471 . C T 5166 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6747;MQ=58.82;MQ0=0;QD=29.35;VQSLOD=7.5442;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5165,391,0 14 20502120 20502120 C T exonic OR4K13 synonymous SNV OR4K13:NM_001004714:exon1:c.G798A:p.S266S 0.27 0.088 0.34 0.26 0.51 0.21 0.4053 0.1632 0.3352 0.2491 0.5713 0.5019 0.4157 0.2281 0.39 0.18 0.5 0.25 0.45 rs17277032 COSM3999191 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4101 0.1536 0.3459 0.5078 0.2544 0.5613 0.4992 0.4242 0.2305 0.4064 0.1675 0.3652 0.5629 0.2478 0.5653 0.5219 0.4448 hom 1316.20 42 14 20502120 . C T 1316.20 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=31.34;VQSLOD=9.0041;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1349,105,0 14 20528359 20528359 G T exonic OR4L1 nonsynonymous SNV OR4L1:NM_001004717:exon1:c.G156T:p.R52S 0.97 0.89 1. 1. 1. 1. 0.9918 0.9185 0.9945 1 0.9998 0.9990 0.9868 0.9997 0.97 0.92 1. 0.96 0.99 rs1959630 . . . . . . . . . . . . . 0.068 0.357 T 0.0 0.026 B 0.0 0.013 B 0.713 0.100 N 1 0.090 P -1.655 0.004 N 5.39 0.011 T 1.77 0.005 N 0.067 0.054 -0.989 0.328 T 0.000 0.000 T . . . -1.021 0.031 0.014 0.713 0.093 0.004 0.020 N c -1.965 -1.935 0.000 0.029 0.487 0.133 0 -4.33 0.034 -1.320 0.028 -0.534 0.049 0.000 0.063 0.004 0.083 5.877 0.180 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9932 0.9170 0.9936 0.9976 1 1.0000 0.9992 0.9917 0.9998 0.9761 0.9177 0.9928 1 1 1 0.9993 0.9949 hom 6413.31 208 14 20528359 . G T 6413.31 Mask AC=2;AF=1.00;AN=2;DP=208;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=58.68;MQ0=0;QD=30.83;VQSLOD=8.9232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,208:208:99:6412,518,0 14 20586042 20586042 G C exonic OR4K17 nonsynonymous SNV OR4K17:NM_001004715:exon1:c.G477C:p.K159N 0.43 0.33 0.41 0.54 0.43 0.45 0.4258 0.3560 0.4154 0.5671 0.3958 0.4145 0.4295 0.4608 0.4 0.36 0.42 0.3 0.34 rs8005245 COSM3753851 1(breast);3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.997 0.689 D 0.928 0.645 D 0.466 0.123 U 0.974 0.255 P 0.8 0.197 N 7.58 0.004 T -4.42 0.774 D 0.065 0.051 -1.065 0.104 T 0.000 0.000 T . . . 4.314 0.578 24.0 0.998 0.907 0.011 0.041 N c -0.256 -0.410 0.035 0.142 0.487 0.133 0 1.95 0.250 -3.982 0.004 0.586 0.286 0.000 0.063 0.987 0.523 5.030 0.137 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4275 0.3511 0.4205 0.4058 0.5738 0.3987 0.4137 0.4269 0.4688 0.3998 0.3469 0.4272 0.4007 0.5922 0.3994 0.4068 0.4227 hom 3186.31 93 14 20586042 . G C 3186.31 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.7004;MQ=58.75;MQ0=0;QD=34.26;VQSLOD=7.3490;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3219,256,0 14 20586432 20586432 C T exonic OR4K17 synonymous SNV OR4K17:NM_001004715:exon1:c.C867T:p.Y289Y 0.47 0.39 0.44 0.58 0.44 0.53 0.4540 0.4135 0.4315 0.5997 0.4001 0.4343 0.4614 0.5193 0.43 0.42 0.44 0.36 0.34 rs9323534 COSM3753852 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4533 0.4054 0.4345 0.4353 0.6028 0.4018 0.4344 0.4538 0.5251 0.4272 0.4036 0.4412 0.4205 0.6210 0.4029 0.4239 0.4447 hom 1620.92 51 14 20586432 . C T 1620.92 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=31.78;VQSLOD=9.7742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1654,138,0 14 20665790 20665790 T A exonic OR11G2 nonsynonymous SNV OR11G2:NM_001005503:exon1:c.T296A:p.I99N 0.44 0.28 0.46 0.51 0.54 0.48 0.4943 0.3068 0.4740 0.4924 0.5846 0.5189 0.5363 0.4899 0.45 0.33 0.52 0.46 0.55 rs4981822 COSM3999203 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.007 0.599 D 0.913 0.485 P 0.56 0.477 P 0.084 0.207 U 0.468 0.320 P 1.61 0.413 L 7.24 0.005 T -5.54 0.861 D 0.179 0.225 -1.112 0.029 T 0.000 0.000 T . . . 5.455 0.740 26.1 0.994 0.605 0.950 0.627 D c 0.395 0.416 1.000 0.747 0.487 0.133 0 4.67 0.579 3.380 0.519 1.045 0.669 0.307 0.252 0.998 0.697 13.230 0.592 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4988 0.3040 0.4696 0.4973 0.4900 0.5839 0.5207 0.5197 0.4880 0.4571 0.3077 0.4617 0.4669 0.4677 0.5875 0.5098 0.4898 hom 6175.90 203 14 20665790 . T A 6175.90 Mask AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.47;MQ0=0;QD=30.42;VQSLOD=9.2532;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:203:99:6175,502,0 14 20665840 20665840 G A exonic OR11G2 nonsynonymous SNV OR11G2:NM_001005503:exon1:c.G346A:p.V116I 0.45 0.28 0.46 0.54 0.54 0.48 0.4968 0.3066 0.4741 0.5214 0.5831 0.5188 0.5363 0.4938 0.45 0.33 0.52 0.47 0.54 rs4981088 COSM3999204 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.095 0.312 T 0.185 0.276 B 0.164 0.333 B 0.001 0.391 U 0.999 0.212 P 1.02 0.256 L 4.98 0.014 T -0.85 0.232 N 0.087 0.092 -0.959 0.394 T 0.000 0.000 T . . . 1.491 0.242 13.27 0.992 0.559 0.260 0.227 N c -0.235 -0.155 0.494 0.209 0.487 0.133 0 4.67 0.579 -0.284 0.084 1.036 0.656 0.000 0.063 0.996 0.625 16.503 0.840 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5004 0.3043 0.4697 0.4637 0.5182 0.5831 0.5222 0.5184 0.4911 0.4596 0.3075 0.4642 0.4470 0.4919 0.5865 0.5129 0.4898 hom 3961.28 125 14 20665840 . G A 3961.28 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6546;MQ=59.26;MQ0=0;QD=31.69;VQSLOD=8.7936;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3961,322,0 14 20665887 20665887 G C exonic OR11G2 synonymous SNV OR11G2:NM_001005503:exon1:c.G393C:p.S131S 0.91 1. 0.89 0.72 0.98 0.91 0.9381 0.9917 0.8100 0.7033 0.9679 0.9804 0.9482 0.9328 0.98 0.99 0.98 0.92 0.97 rs4981823 COSM3999205 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9330 0.9926 0.8248 0.9844 0.7034 0.9647 0.9814 0.9444 0.9328 0.9618 0.9921 0.8389 0.9834 0.6918 0.9671 0.9791 0.9510 hom 2633.34 72 14 20665887 . G C 2633.34 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9983;MQ=60.00;MQ0=0;QD=36.57;VQSLOD=8.5026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2666,211,0 14 20666175 20666175 - A exonic OR11G2 frameshift insertion OR11G2:NM_001005503:exon1:c.682dupA:p.G230Rfs*73 . . . . . . 0.6774 0.6418 0.5900 0.5072 0.7269 0.7062 0.6663 0.7145 0.69 0.67 0.71 0.033 . rs77164062 COSM112052 1(ovary);15(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6787 0.6470 0.6017 0.6367 0.5050 0.7180 0.7122 0.6741 hom 4546.78 133 14 20666175 . C CA 4546.78 Mask AC=2;AF=1.00;AN=2;DP=133;FS=0.000;HRun=6;HaplotypeScore=273.0452;MQ=60.55;MQ0=0;QD=34.19;set=variant2 GT:AD:DP:GQ:PL 1/1:10,121:133:99:4547,370,0 14 20764585 20764585 A C exonic TTC5 synonymous SNV TTC5:NM_138376:exon6:c.T660G:p.A220A 0.4 0.23 0.53 0.48 0.48 0.38 0.4585 0.2600 0.4849 0.4829 0.4126 0.4981 0.4515 0.4108 0.42 0.26 0.5 0.36 0.43 rs1953552 COSM1128303 1(breast);1(oesophagus);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4626 0.2563 0.4901 0.5103 0.4843 0.4125 0.4994 0.4690 0.4092 0.4141 0.2565 0.4928 0.5430 0.4975 0.4086 0.4886 0.4509 het 3940.65 233 14 20764585 . A C 3940.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.444;DP=233;DS;Dels=0.00;FS=6.143;HRun=0;HaplotypeScore=5.5981;MQ=59.42;MQ0=0;MQRankSum=-0.350;QD=16.91;ReadPosRankSum=0.362;VQSLOD=4.4129;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:101,132:233:99:3329,0,2956 14 20770036 20770036 T C exonic TTC5 nonsynonymous SNV TTC5:NM_138376:exon2:c.A140G:p.Q47R 0.75 0.76 0.86 0.8 0.74 0.6 0.7368 0.7420 0.8309 0.8004 0.7152 0.7354 0.7214 0.6492 0.74 0.75 0.73 0.67 0.8 rs3742945 COSM1179594 1(prostate) . . . . . . . . . . . 0.842 0.028 T 0.0 0.026 B 0.0 0.013 B 0.072 0.214 N 1 0.090 P -0.29 0.037 N 1.6 0.286 T 0.1 0.058 N 0.275 0.333 -1.008 0.276 T 0.000 0.000 T . . . -0.424 0.060 0.338 0.751 0.106 0.043 0.097 N c -1.353 -1.217 0.999 0.394 0.732 0.924 0 0.384 0.154 -0.324 0.080 -2.370 0.003 0.000 0.063 0.098 0.188 8.813 0.340 . ENSG00000222489.1|ENSG00000222489.1|ENSG00000136319.7|ENSG00000129484.9|ENSG00000129484.9|ENSG00000222489.1|ENSG00000129484.9|ENSG00000100814.13|ENSG00000129484.9|ENSG00000136319.7|ENSG00000222489.1|ENSG00000129484.9 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Thyroid 0.7431 0.7410 0.8323 0.7810 0.7989 0.7183 0.7343 0.7481 0.6521 0.7322 0.7378 0.8086 0.7649 0.8 0.7064 0.7229 0.7301 het 1821 132 14 20770036 . T C 1821 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.437;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2245;MQ=59.01;MQ0=0;MQRankSum=1.112;QD=13.80;ReadPosRankSum=0.437;VQSLOD=6.0321;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,69:132:99:1851,0,1604 14 20824181 20824181 T C exonic PARP2 synonymous SNV PARP2:NM_001042618:exon11:c.T1092C:p.Y364Y,PARP2:NM_005484:exon11:c.T1131C:p.Y377Y 0.51 0.29 0.62 0.6 0.68 0.47 0.6122 0.3312 0.5468 0.6339 0.6796 0.6782 0.6122 0.5198 0.57 0.35 0.67 0.46 0.62 rs3093930 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6151 0.3231 0.5582 0.6876 0.6292 0.6769 0.6780 0.6252 0.5156 0.5719 0.3305 0.5923 0.6523 0.6390 0.6626 0.6760 0.6493 hom 4996.08 176 14 20824181 . T C 4996.08 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.81;MQ0=0;QD=28.39;VQSLOD=7.8314;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:4995,394,0 14 20854734 20854734 A G exonic TEP1 synonymous SNV TEP1:NM_001319035:exon17:c.T2409C:p.H803H,TEP1:NM_007110:exon19:c.T2733C:p.H911H 1. 1. 0.99 1. 0.99 1. 0.9918 0.9980 0.9953 0.9998 0.9915 0.9885 0.9945 0.9942 0.99 1. 0.99 0.96 0.94 rs945011 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9921 0.9986 0.9951 0.9991 0.9999 0.9922 0.9879 0.9925 0.9940 0.9912 0.9979 0.9928 1 1 0.9914 0.9862 0.9898 hom 1658.73 56 14 20854734 . A G 1658.73 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.62;VQSLOD=13.8816;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1692,132,0 14 20872881 20872881 G T exonic TEP1 nonsynonymous SNV TEP1:NM_007110:exon5:c.C921A:p.N307K 0.36 0.49 0.28 0.42 0.22 0.35 0.2872 0.4713 0.3672 0.4372 0.2257 0.2187 0.2439 0.3405 0.3 0.45 0.22 0.36 0.24 rs1760898 COSM3999211 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid) . . . . . . . . . . . 0.303 0.143 T 0.0 0.026 B 0.0 0.013 B 0.979 0.078 N 1 0.090 P -2.3 0.001 N 2.54 0.139 T 0.74 0.020 N 0.019 0.089 -0.926 0.448 T 0.000 0.000 T . . . 0.811 0.171 9.531 0.937 0.230 0.017 0.053 N c -1.346 -1.234 0.076 0.157 0.707 0.730 0 -0.961 0.098 -0.001 0.128 -0.217 0.098 0.006 0.172 0.242 0.226 2.53 0.044 TROVE domain . . 0.2847 0.4734 0.3522 0.2700 0.4404 0.2265 0.2156 0.2467 0.3343 0.3009 0.4672 0.3353 0.2682 0.4467 0.2293 0.2086 0.2321 het 1085.98 118 14 20872881 . G T 1085.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.623;DP=118;Dels=0.00;FS=4.720;HRun=2;HaplotypeScore=5.2177;MQ=59.24;MQ0=0;MQRankSum=0.487;QD=9.20;ReadPosRankSum=0.515;VQSLOD=4.7705;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,44:118:99:1116,0,2120 14 20876253 20876253 A G exonic TEP1 nonsynonymous SNV TEP1:NM_001319035:exon2:c.T346C:p.S116P,TEP1:NM_007110:exon2:c.T346C:p.S116P 0.36 0.54 0.3 0.18 0.32 0.37 0.3337 0.5137 0.3906 0.1769 0.2966 0.3102 0.3359 0.3722 0.38 0.51 0.32 0.4 0.32 rs1760897 COSM3999212 1(haematopoietic_and_lymphoid_tissue);9(soft_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.450 0.125 N 1 0.090 P -1.18 0.009 N 1.75 0.262 T 1.09 0.013 N 0.017 0.019 -0.940 0.426 T 0.000 0.000 T . . . -1.429 0.019 0.003 0.086 0.001 0.002 0.012 N c -1.611 -1.523 0.799 0.241 0.615 0.372 0 -0.634 0.109 -0.652 0.054 -0.232 0.094 0.000 0.063 0.136 0.201 3.387 0.068 . . . 0.3307 0.5150 0.3754 0.4100 0.1746 0.2881 0.3070 0.3299 0.3691 0.3534 0.4972 0.3711 0.4172 0.1755 0.2832 0.3064 0.3014 het 2613.42 193 14 20876253 . A G 2613.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.765;DP=193;Dels=0.00;FS=9.932;HRun=1;HaplotypeScore=5.4107;MQ=59.63;MQ0=0;MQRankSum=-0.872;QD=13.54;ReadPosRankSum=-0.043;VQSLOD=4.3196;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,90:193:99:2643,0,2861 14 20916958 20916958 T C exonic OSGEP synonymous SNV OSGEP:NM_017807:exon6:c.A570G:p.L190L 0.5 0.56 0.41 0.43 0.58 0.45 0.5355 0.5436 0.3647 0.4261 0.6575 0.5765 0.5683 0.4911 0.56 0.54 0.56 0.45 0.67 rs938883 COSM147732 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(oesophagus);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5293 0.5435 0.3751 0.6084 0.4117 0.6592 0.5678 0.5581 0.4919 0.5455 0.5360 0.4187 0.6291 0.3874 0.6406 0.5487 0.5867 het 1123.06 105 14 20916958 . T C 1123.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.522;DP=105;Dels=0.00;FS=3.939;HRun=1;HaplotypeScore=0.0000;MQ=59.78;MQ0=0;MQRankSum=0.890;QD=10.70;ReadPosRankSum=-2.000;VQSLOD=5.6183;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,41:105:99:1153,0,1599 14 20920250 20920250 T C exonic OSGEP synonymous SNV OSGEP:NM_017807:exon3:c.A294G:p.Q98Q 0.55 0.63 0.45 0.45 0.63 0.55 0.5802 0.6107 0.4160 0.4460 0.6833 0.6104 0.6133 0.5806 0.6 0.61 0.6 0.51 0.7 rs2275007 COSM5427911 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5726 0.6107 0.4246 0.6540 0.4283 0.6858 0.6015 0.6014 0.5781 0.5896 0.6022 0.4689 0.6867 0.3973 0.6661 0.5878 0.6207 het 818.92 53 14 20920250 . T C 818.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.180;DP=53;Dels=0.00;FS=2.443;HRun=0;HaplotypeScore=2.4875;MQ=59.13;MQ0=0;MQRankSum=0.811;QD=15.45;ReadPosRankSum=0.045;VQSLOD=6.4667;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,28:53:99:849,0,656 14 20925154 20925154 T G exonic APEX1 nonsynonymous SNV APEX1:NM_001244249:exon5:c.T444G:p.D148E,APEX1:NM_001641:exon5:c.T444G:p.D148E,APEX1:NM_080648:exon5:c.T444G:p.D148E,APEX1:NM_080649:exon5:c.T444G:p.D148E 0.38 0.32 0.44 0.41 0.51 0.24 0.4280 0.3651 0.3868 0.4123 0.5283 0.4818 0.4307 0.2460 0.44 0.37 0.47 0.26 0.43 rs1130409 COSM3753865 1(large_intestine) . . . . . . . . . . . 1.0 0.026 T 0.0 0.026 B 0.0 0.013 B 0.000 0.443 N 1.000 0.810 P 0.625 0.159 N -1.31 0.797 T -0.2 0.131 N 0.131 0.150 -1.027 0.215 T 0.000 0.000 T . . . -1.666 0.013 0.002 0.661 0.077 0.180 0.199 N c -1.180 -1.074 1.000 0.747 0.722 0.854 0 -2.6 0.058 0.117 0.153 -0.224 0.096 0.978 0.348 0.267 0.231 6.442 0.209 Endonuclease/exonuclease/phosphatase . . 0.4209 0.3632 0.3833 0.3620 0.3980 0.5204 0.4800 0.4253 0.2373 0.4400 0.3563 0.4141 0.3675 0.3941 0.5232 0.4764 0.4508 hom 1341.57 41 14 20925154 . T G 1341.57 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=32.72;VQSLOD=9.6424;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1375,105,0 14 20928359 20928359 C A exonic TMEM55B synonymous SNV TMEM55B:NM_001100814:exon3:c.G453T:p.R151R,TMEM55B:NM_144568:exon3:c.G432T:p.R144R 0.14 0.042 0.097 0.42 0.055 0.084 0.0842 0.0524 0.0696 0.4281 0.0650 0.0529 0.0782 0.0690 0.057 0.057 0.058 0.054 0.025 rs35567022 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0839 0.0531 0.0654 0.0527 0.4317 0.0616 0.0528 0.0620 0.0677 0.0771 0.0527 0.0609 0.0364 0.4306 0.0730 0.0577 0.0509 het 640.09 69 14 20928359 . C A 640.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.113;DP=69;Dels=0.00;FS=5.085;HRun=0;HaplotypeScore=3.7097;MQ=59.46;MQ0=0;MQRankSum=-0.891;QD=9.28;ReadPosRankSum=-0.621;VQSLOD=4.3602;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,27:69:99:670,0,1131 14 21024619 21024619 A G exonic RNASE9 nonsynonymous SNV RNASE9:NM_001001673:exon2:c.T610C:p.S204P,RNASE9:NM_001110356:exon3:c.T610C:p.S204P,RNASE9:NM_001110357:exon3:c.T610C:p.S204P,RNASE9:NM_001110358:exon4:c.T625C:p.S209P,RNASE9:NM_001110360:exon4:c.T625C:p.S209P,RNASE9:NM_001289110:exon4:c.T610C:p.S204P,RNASE9:NM_001110359:exon5:c.T625C:p.S209P,RNASE9:NM_001110361:exon5:c.T625C:p.S209P 0.75 0.8 0.69 0.66 0.79 0.79 0.7735 0.7955 0.6395 0.6551 0.8064 0.7983 0.7833 0.8020 0.79 0.8 0.79 0.75 0.82 rs1243647 COSM4147965 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.805 0.016 N 2.45 0.153 T 0.43 0.033 N 0.03 0.019 -0.995 0.314 T 0.000 0.000 T . . . -0.023 0.091 2.371 0.072 0.000 0.000 0.003 N c -1.635 -1.615 0.992 0.325 0.487 0.133 0 -1.08 0.094 -0.228 0.090 -0.003 0.134 0.000 0.063 0.000 0.016 3.661 0.077 . . . 0.7664 0.7965 0.6488 0.8035 0.6583 0.8046 0.7944 0.7798 0.7975 0.7915 0.8004 0.6897 0.8444 0.6764 0.8057 0.8013 0.7724 hom 3197.60 102 14 21024619 . A G 3197.60 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.35;VQSLOD=14.2592;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3231,247,0 14 21024786 21024786 A G exonic RNASE9 nonsynonymous SNV RNASE9:NM_001001673:exon2:c.T443C:p.F148S,RNASE9:NM_001110356:exon3:c.T443C:p.F148S,RNASE9:NM_001110357:exon3:c.T443C:p.F148S,RNASE9:NM_001110358:exon4:c.T458C:p.F153S,RNASE9:NM_001110360:exon4:c.T458C:p.F153S,RNASE9:NM_001289110:exon4:c.T443C:p.F148S,RNASE9:NM_001110359:exon5:c.T458C:p.F153S,RNASE9:NM_001110361:exon5:c.T458C:p.F153S 0.58 0.19 0.65 0.66 0.78 0.75 0.7109 0.2592 0.6139 0.6563 0.7937 0.7830 0.7528 0.7657 0.61 0.28 0.78 0.52 0.75 rs12590446 COSM5002905 1(pancreas) . . . . . . . . . . . 0.42 0.099 T 0.004 0.112 B 0.004 0.093 B . . . 1 0.090 P 0 0.065 N -0.46 0.700 T 3.69 0.001 N 0.024 0.034 -1.017 0.247 T 0.000 0.000 T . . . -3.152 0.001 0.001 0.324 0.019 0.002 0.009 N c -2.372 -2.443 1.000 0.747 0.487 0.133 0 -7.47 0.012 -1.880 0.017 -2.504 0.003 0.000 0.063 0.000 0.016 5.971 0.185 Ribonuclease A-domain . . 0.7156 0.2528 0.6213 0.7751 0.6592 0.7917 0.7810 0.7423 0.7649 0.6338 0.2750 0.6492 0.7914 0.6770 0.7944 0.7892 0.7403 hom 1780.09 56 14 21024786 . A G 1780.09 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.15;MQ0=0;QD=31.79;VQSLOD=8.6523;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1813,141,0 14 21109170 21109170 T A exonic OR6S1 synonymous SNV OR6S1:NM_001001968:exon1:c.A681T:p.A227A 0.98 0.94 1. 1. 1. 1. 0.9954 0.9486 0.9992 0.9999 1 0.9998 0.9967 0.9999 0.98 0.95 1. 1. 0.98 rs11628297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9966 0.9496 0.9987 0.9995 0.9999 1 0.9999 0.9978 1.0000 0.9840 0.9442 0.9952 1 1 1 0.9999 0.9959 hom 7625.47 234 14 21109170 . T A 7625.47 Mask AC=2;AF=1.00;AN=2;DP=234;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8490;MQ=59.35;MQ0=0;QD=32.59;VQSLOD=8.3276;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7625,593,0 14 21109278 21109278 A T exonic OR6S1 synonymous SNV OR6S1:NM_001001968:exon1:c.T573A:p.A191A 0.45 0.49 0.55 0.25 0.53 0.46 0.5079 0.4956 0.4911 0.2495 0.5086 0.5552 0.5066 0.4715 0.54 0.51 0.56 0.5 0.48 rs11627438 COSM432810 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5096 0.4974 0.5038 0.5280 0.2442 0.5209 0.5607 0.5252 0.4686 0.5198 0.4915 0.5084 0.5 0.2186 0.5186 0.5700 0.5194 hom 4020.76 116 14 21109278 . A T 4020.76 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4548;MQ=59.24;MQ0=0;QD=34.66;VQSLOD=8.3117;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,115:116:99:4020,322,0 14 21109385 21109385 C T exonic OR6S1 nonsynonymous SNV OR6S1:NM_001001968:exon1:c.G466A:p.V156I 0.45 0.49 0.54 0.25 0.52 0.46 0.4998 0.4930 0.482 0.2488 0.5018 0.5434 0.5011 0.4711 0.53 0.51 0.54 0.49 0.42 rs11622969 COSM4416725 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.038 0.427 D 0.092 0.237 B 0.028 0.201 B 0.198 0.167 N 1 0.090 P 0.03 0.081 N 1.19 0.376 T 0.54 0.028 N 0.009 0.001 -0.956 0.400 T 0.000 0.000 T . . . 0.770 0.167 9.275 0.896 0.184 0.029 0.076 N c -1.268 -1.216 0.024 0.135 0.421 0.056 0 -0.768 0.104 -0.966 0.039 -2.819 0.002 0.000 0.063 0.008 0.104 2.650 0.047 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.5011 0.4948 0.4931 0.5277 0.2436 0.5137 0.5477 0.5141 0.4685 0.5120 0.4889 0.4964 0.5 0.2187 0.5132 0.5576 0.5153 hom 2176.86 72 14 21109385 . C T 2176.86 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5584;MQ=59.16;MQ0=0;QD=30.23;VQSLOD=9.0449;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:72:99:2210,175,0 14 21109671 21109671 A G exonic OR6S1 synonymous SNV OR6S1:NM_001001968:exon1:c.T180C:p.P60P 0.46 0.49 0.55 0.29 0.54 0.46 0.5124 0.4959 0.4905 0.2804 0.5215 0.5574 0.5121 0.4739 0.54 0.51 0.56 0.5 0.5 rs11627574 COSM3753866 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5143 0.4981 0.5040 0.5300 0.2740 0.5332 0.5628 0.5279 0.4711 0.5236 0.4915 0.5060 0.5 0.2373 0.5301 0.5733 0.5235 hom 4104.73 130 14 21109671 . A G 4104.73 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.5584;MQ=59.25;MQ0=0;QD=31.57;VQSLOD=9.3353;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4104,313,0 14 21109726 21109726 G A exonic OR6S1 nonsynonymous SNV OR6S1:NM_001001968:exon1:c.C125T:p.T42I 0.46 0.49 0.55 0.29 0.53 0.46 0.5104 0.4960 0.4903 0.2801 0.5089 0.5554 0.5099 0.4731 0.54 0.51 0.56 0.5 0.47 rs11622794 COSM3999213 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.412 0.101 T 0.021 0.172 B 0.016 0.166 B 0.044 0.237 N 1 0.090 P 1.005 0.253 L 7.47 0.004 T -0.01 0.072 N 0.087 0.083 -1.117 0.025 T 0.000 0.000 T . . . 0.692 0.160 8.776 0.787 0.120 0.015 0.048 N c -0.855 -0.765 0.023 0.135 0.554 0.283 0 1.53 0.221 0.761 0.260 -0.239 0.092 0.000 0.063 0.910 0.387 8.403 0.316 . . . 0.5121 0.4980 0.5039 0.5302 0.2737 0.5207 0.5609 0.5257 0.4704 0.5212 0.4918 0.5072 0.5033 0.2382 0.5195 0.5703 0.5194 hom 5284.32 161 14 21109726 . G A 5284.32 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.82;VQSLOD=9.4351;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:5284,433,0 14 21215997 21215997 C T exonic EDDM3A synonymous SNV EDDM3A:NM_006683:exon2:c.C258T:p.S86S 0.28 0.11 0.32 0.46 0.23 0.36 0.2586 0.1265 0.2742 0.4423 0.1977 0.2369 0.2848 0.3460 0.2 0.13 0.23 0.34 0.22 rs11847654 COSM3999214 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2623 0.125 0.2741 0.2804 0.4415 0.2013 0.2368 0.2643 0.3475 0.2182 0.1315 0.2649 0.25 0.4374 0.2034 0.2432 0.2464 hom 2394.91 77 14 21215997 . C T 2394.91 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8561;MQ=59.70;MQ0=0;QD=30.70;VQSLOD=8.5837;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2428,199,0 14 21238318 21238318 G A exonic EDDM3B synonymous SNV EDDM3B:NM_022360:exon2:c.G9A:p.S3S 0.55 0.19 0.55 0.73 0.69 0.72 0.6426 0.2638 0.4715 0.7294 0.7864 0.6835 0.6748 0.7303 0.53 0.29 0.66 0.48 0.61 rs3827905 COSM5021808 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6442 0.2551 0.4821 0.6886 0.7319 0.7820 0.6794 0.6408 0.7265 0.5875 0.2722 0.5048 0.7152 0.7392 0.7735 0.7070 0.6796 hom 2262.81 73 14 21238318 . G A 2262.81 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=31.00;VQSLOD=8.9701;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2296,181,0 14 21250124 21250124 G A exonic RNASE6 nonsynonymous SNV RNASE6:NM_005615:exon2:c.G266A:p.R89Q 0.3 0.11 0.3 0.43 0.25 0.51 0.2805 0.1252 0.2841 0.4147 0.2297 0.2473 0.2896 0.4602 0.21 0.13 0.25 0.26 0.24 rs1045922 COSM5438405 1(oesophagus) . . . . . . . . . . . 0.556 0.064 T 0.012 0.151 B 0.003 0.080 B 0.108 0.026 N 1 0.090 P -0.34 0.035 N -0.66 0.724 T 0.1 0.058 N 0.006 0.000 -1.030 0.204 T 0.000 0.000 T . . . -1.527 0.016 0.002 0.629 0.069 0.010 0.037 N c -2.346 -2.455 1.000 0.747 0.616 0.391 0 -9.94 0.004 -2.444 0.011 -2.914 0.002 0.000 0.063 0.000 0.016 14.249 0.654 Ribonuclease A-domain ENSG00000100888.8|ENSG00000258810.1|ENSG00000258810.1|ENSG00000258810.1|ENSG00000258810.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Nerve_Tibial|Whole_Blood 0.2826 0.1247 0.2842 0.3114 0.4145 0.2385 0.2425 0.2733 0.4554 0.2362 0.1290 0.2661 0.2781 0.4209 0.2477 0.2707 0.2771 hom 7029.25 214 14 21250124 . G A 7029.25 Mask AC=2;AF=1.00;AN=2;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8477;MQ=58.59;MQ0=0;QD=32.85;VQSLOD=9.2334;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,213:214:99:7029,548,0 14 21250212 21250212 T C exonic RNASE6 synonymous SNV RNASE6:NM_005615:exon2:c.T354C:p.A118A 0.024 0.0068 0.043 . 0.075 0.0031 0.0472 0.0144 0.0322 0.0001 0.0384 0.0724 0.0407 0.0053 0.054 0.017 0.073 0.033 0.033 rs34972223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0467 0.0141 0.0384 0.0344 0.0001 0.0411 0.0738 0.0547 0.0063 0.0529 0.0163 0.0334 0.0265 0 0.0464 0.0825 0.0601 het 3139.80 239 14 21250212 . T C 3139.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.073;DP=239;Dels=0.00;FS=1.004;HRun=1;HaplotypeScore=4.6547;MQ=59.59;MQ0=0;MQRankSum=0.454;QD=13.14;ReadPosRankSum=0.207;VQSLOD=5.1076;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,124:239:99:3170,0,3185 14 21360216 21360216 C G exonic RNASE3 nonsynonymous SNV RNASE3:NM_002935:exon2:c.C371G:p.T124R 0.64 0.37 0.82 0.74 0.72 0.7 0.7148 0.4208 0.8746 0.7170 0.8074 0.7294 0.7346 0.6872 0.62 0.44 0.72 0.58 0.68 rs2073342 COSM4415921 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.190 0.032 N 1 0.090 P -1.855 0.003 N -0.52 0.707 T 3.94 0.001 N 0.054 0.036 -0.948 0.414 T 0.000 0.000 T . . . -2.350 0.004 0.001 0.111 0.002 0.000 0.003 N c -2.694 -2.625 0.997 0.352 0.487 0.133 0 -3.36 0.046 -3.139 0.006 -5.224 0.000 0.000 0.063 0.000 0.016 1.307 0.019 Ribonuclease A-domain ENSG00000259130.1|ENSG00000136315.3 Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7264 0.4102 0.8570 0.7129 0.7211 0.8043 0.7266 0.7416 0.6870 0.6676 0.4180 0.8473 0.6954 0.7064 0.8116 0.7523 0.7551 het 1405.26 149 14 21360216 . C G 1405.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.555;DP=149;Dels=0.00;FS=3.117;HRun=1;HaplotypeScore=8.8066;MQ=58.86;MQ0=0;MQRankSum=-0.014;QD=9.43;ReadPosRankSum=-1.615;VQSLOD=3.4527;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,54:149:99:1435,0,2469 14 21467913 21467913 T G exonic SLC39A2 nonsynonymous SNV SLC39A2:NM_001256588:exon2:c.T128G:p.L43R,SLC39A2:NM_014579:exon2:c.T128G:p.L43R 0.76 0.94 0.73 0.72 0.69 0.66 0.7016 0.8957 0.6909 0.7295 0.7198 0.6822 0.7104 0.6433 0.76 0.91 0.68 0.79 0.77 rs2234632 COSM5425313 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.073 0.214 N 1 0.090 P -1.245 0.008 N 0.75 0.502 T 3.05 0.004 N 0.044 0.052 -0.956 0.400 T 0.000 0.000 T . . . -1.470 0.018 0.003 0.541 0.050 0.002 0.010 N c -1.512 -1.397 0.999 0.380 0.428 0.059 0 2.8 0.317 0.419 0.208 -0.247 0.091 0.001 0.137 0.002 0.062 1.950 0.031 . ENSG00000165794.5|ENSG00000165794.5 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.7006 0.8997 0.6960 0.7513 0.7233 0.7176 0.6790 0.7022 0.6432 0.7396 0.8918 0.7291 0.7351 0.7177 0.7158 0.6627 0.6936 het 1397.02 151 14 21467913 . T G 1397.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.474;DP=151;Dels=0.00;FS=1.311;HRun=0;HaplotypeScore=5.2833;MQ=58.72;MQ0=0;MQRankSum=0.368;QD=9.25;ReadPosRankSum=-0.960;VQSLOD=5.1175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,63:151:99:1427,0,2376 14 21469151 21469151 T C exonic SLC39A2 nonsynonymous SNV SLC39A2:NM_014579:exon4:c.T343C:p.F115L 0.32 0.15 0.49 0.37 0.33 0.36 0.3610 0.1780 0.5111 0.3885 0.3748 0.3580 0.3725 0.3617 0.29 0.18 0.35 0.34 0.5 rs2234636 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.803 0.068 N 1.000 0.216 P -0.975 0.012 N 0.97 0.425 T 1.41 0.008 N 0.074 0.064 -0.968 0.376 T 0.000 0.000 T . . . -2.486 0.003 0.001 0.509 0.044 0.009 0.035 N c -1.936 -1.956 1.000 0.747 0.554 0.283 0 -10.9 0.002 -1.134 0.033 -0.728 0.036 0.000 0.063 0.693 0.308 15.491 0.752 . ENSG00000165794.5|ENSG00000165794.5 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.3676 0.1736 0.5108 0.4154 0.3854 0.3854 0.3558 0.3760 0.3526 0.3092 0.1683 0.4857 0.3255 0.3617 0.3696 0.3580 0.3592 het 4329.62 233 14 21469151 . T C 4329.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.691;DP=233;DS;Dels=0.00;FS=5.873;HRun=0;HaplotypeScore=7.2076;MQ=59.80;MQ0=0;MQRankSum=-0.285;QD=18.58;ReadPosRankSum=-0.411;VQSLOD=3.7237;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,122:233:99:3673,0,3226 14 21511458 21511458 G C exonic RNASE7 nonsynonymous SNV RNASE7:NM_032572:exon2:c.G307C:p.A103P 0.83 0.77 0.92 0.86 0.89 0.73 0.8680 0.7966 0.9348 0.8711 0.9386 0.8915 0.8866 0.7399 0.86 0.8 0.88 0.84 0.93 rs1263872 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.301 0.146 N 1 0.090 P -2.06 0.002 N -0.63 0.720 T 4.81 0.000 N 0.035 0.037 -0.984 0.342 T 0.000 0.000 T . . . -1.803 0.011 0.002 0.544 0.050 0.001 0.006 N c -1.840 -1.765 1.000 0.423 0.487 0.133 0 -1.48 0.082 -0.127 0.104 0.067 0.174 0.000 0.063 0.003 0.074 5.277 0.149 Ribonuclease A-domain . . 0.8745 0.7951 0.9300 0.9426 0.8657 0.9372 0.8880 0.8904 0.7391 0.8686 0.8008 0.9153 0.9404 0.8609 0.9413 0.8871 0.8788 hom 8283.94 250 14 21511458 . G C 8283.94 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.648;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6006;MQ=59.48;MQ0=0;MQRankSum=1.718;QD=33.14;ReadPosRankSum=1.704;VQSLOD=8.2859;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,248:250:99:8259,626,0 14 21511497 21511497 C T exonic RNASE7 nonsynonymous SNV RNASE7:NM_032572:exon2:c.C346T:p.H116Y 0.82 0.75 0.92 0.86 0.89 0.73 0.8663 0.7838 0.9337 0.8697 0.9383 0.8912 0.8863 0.7385 0.85 0.79 0.88 0.86 0.93 rs1243469 COSM1180657 1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.658 0.104 U 1.000 0.196 P -3.18 0.000 N -0.51 0.706 T 4.54 0.000 N 0.081 0.348 -0.958 0.395 T 0.000 0.000 T . . . -0.018 0.092 2.418 0.893 0.181 0.001 0.005 N c -1.517 -1.305 1.000 0.434 0.487 0.133 0 2.67 0.306 0.168 0.163 -0.215 0.099 0.055 0.214 0.177 0.212 6.970 0.237 Ribonuclease A-domain . . 0.8730 0.7829 0.9286 0.9425 0.8641 0.9370 0.8877 0.8876 0.7378 0.8658 0.7916 0.9105 0.9371 0.8594 0.9410 0.8872 0.8788 hom 7543.92 250 14 21511497 . C T 7543.92 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8273;MQ=59.55;MQ0=0;QD=30.18;VQSLOD=9.0362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7542,626,0 14 21526079 21526079 C T exonic RNASE8 nonsynonymous SNV RNASE8:NM_138331:exon1:c.C28T:p.P10S 0.55 0.4 0.59 0.62 0.64 0.54 0.5769 0.4160 0.5633 0.6030 0.5765 0.6147 0.5706 0.5221 0.55 0.42 0.61 0.42 0.66 rs12437266 . . . . . . . . . . . . . 0.139 0.257 T 0.018 0.165 B 0.017 0.170 B 0.862 0.071 N 1 0.090 P 1.355 0.339 L -1.14 0.779 T -3.95 0.734 D 0.013 0.002 -0.944 0.421 T 0.000 0.000 T . . . 0.438 0.136 6.939 0.763 0.110 0.030 0.078 N c -1.438 -1.568 1.000 0.747 0.497 0.185 0 -4.89 0.029 -1.682 0.020 -0.842 0.029 0.000 0.063 0.003 0.074 7.253 0.252 . . . 0.5806 0.4156 0.5663 0.6842 0.6008 0.5746 0.6116 0.5913 0.5244 0.5469 0.4212 0.5409 0.6921 0.5936 0.5974 0.5986 0.5786 het 1492.69 88 14 21526079 . C T 1492.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.144;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2332;MQ=59.21;MQ0=0;MQRankSum=0.707;QD=16.96;ReadPosRankSum=0.801;VQSLOD=5.1996;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,54:88:99:1523,0,900 14 21551058 21551058 G A exonic ARHGEF40 synonymous SNV ARHGEF40:NM_001278529:exon16:c.G1413A:p.A471A,ARHGEF40:NM_001278530:exon16:c.G1413A:p.A471A,ARHGEF40:NM_018071:exon16:c.G3555A:p.A1185A 0.54 0.54 0.49 0.51 0.62 0.54 0.5756 0.5453 0.4641 0.4877 0.5581 0.6162 0.5872 0.5611 0.59 0.54 0.61 0.54 0.54 rs1958395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5707 0.5456 0.4725 0.5873 0.4860 0.5565 0.6200 0.5976 0.5590 0.5836 0.5518 0.5215 0.5861 0.4994 0.5688 0.6191 0.5684 hom 3787.69 138 14 21551058 . G A 3787.69 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9155;MQ=59.09;MQ0=0;QD=27.45;VQSLOD=6.8876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:138:99:3787,298,0 14 21551069 21551069 T C exonic ARHGEF40 nonsynonymous SNV ARHGEF40:NM_001278529:exon16:c.T1424C:p.L475S,ARHGEF40:NM_001278530:exon16:c.T1424C:p.L475S,ARHGEF40:NM_018071:exon16:c.T3566C:p.L1189S 0.86 0.98 0.95 0.62 0.88 0.86 0.8720 0.9659 0.9339 0.5902 0.7336 0.9003 0.8551 0.8585 0.92 0.96 0.91 0.86 0.93 rs1958396 . . . . . . . . . . . . . 0.474 0.084 T 0.0 0.026 B 0.002 0.093 B 0.030 0.253 N 1.000 0.186 P -1.24 0.008 N 0.17 0.605 T 0.71 0.021 N 0.029 0.011 -0.955 0.401 T 0.000 0.000 T . . . 1.469 0.239 13.15 0.941 0.237 0.008 0.031 N c -0.927 -0.742 1.000 0.517 0.672 0.522 0 4.93 0.643 0.747 0.258 0.016 0.142 0.251 0.246 0.505 0.272 9.486 0.379 Dbl homology (DH) domain . . 0.8691 0.9671 0.9360 0.9227 0.5867 0.7298 0.9044 0.8857 0.8581 0.8804 0.9645 0.9356 0.9139 0.6089 0.7355 0.8940 0.8327 hom 3636.04 114 14 21551069 . T C 3636.04 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.06;MQ0=0;QD=31.90;VQSLOD=9.9048;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3636,280,0 14 21623290 21623290 T C exonic OR5AU1 nonsynonymous SNV OR5AU1:NM_001004731:exon1:c.A895G:p.I299V 0.72 0.85 0.7 0.5 0.79 0.73 0.7429 0.8258 0.6322 0.4545 0.7814 0.7862 0.7726 0.7263 0.8 0.82 0.79 0.76 0.71 rs7145814 COSM3753869 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.88 0.002 N 9.46 0.000 T 0.75 0.020 N 0.056 0.040 -0.953 0.406 T 0.000 0.000 T . . . -1.718 0.012 0.002 0.166 0.004 0.018 0.055 N c -1.495 -1.306 0.040 0.144 0.487 0.133 0 2.63 0.303 1.495 0.350 -0.649 0.041 0.739 0.288 0.779 0.330 9.110 0.357 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7352 0.8294 0.6442 0.7446 0.4514 0.7746 0.7855 0.7757 0.7258 0.7717 0.8315 0.6516 0.7351 0.4325 0.7725 0.7815 0.7612 hom 2407.61 77 14 21623290 . T C 2407.61 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.27;VQSLOD=13.3377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2441,205,0 14 21623303 21623303 G T exonic OR5AU1 synonymous SNV OR5AU1:NM_001004731:exon1:c.C882A:p.S294S 0.065 0.088 0.072 0.045 0.07 0.046 0.0618 0.0854 0.0455 0.0334 0.1104 0.0626 0.0828 0.0496 0.064 0.081 0.056 0.065 0.016 rs45603634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0611 0.0863 0.0477 0.0312 0.0334 0.1087 0.0622 0.0608 0.0496 0.0711 0.0858 0.0453 0.0464 0.0327 0.1087 0.0604 0.0644 het 1002.59 86 14 21623303 . G T 1002.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.634;DP=86;Dels=0.00;FS=7.235;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.787;QD=11.66;ReadPosRankSum=0.934;VQSLOD=4.4443;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,41:86:99:1033,0,1355 14 21623489 21623489 C T exonic OR5AU1 synonymous SNV OR5AU1:NM_001004731:exon1:c.G696A:p.G232G 0.51 0.73 0.39 0.66 0.21 0.45 0.3160 0.6675 0.4454 0.6857 0.1903 0.1797 0.2694 0.4162 0.35 0.66 0.19 0.5 0.25 rs45462402 COSM3753870 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3130 0.6749 0.4300 0.2234 0.6789 0.1892 0.1784 0.2597 0.4155 0.3488 0.6631 0.4089 0.2351 0.6696 0.1837 0.1766 0.2464 het 1398.74 85 14 21623489 . C T 1398.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.689;DP=85;Dels=0.00;FS=4.366;HRun=0;HaplotypeScore=0.9665;MQ=59.73;MQ0=0;MQRankSum=0.760;QD=16.46;ReadPosRankSum=1.279;VQSLOD=5.1575;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,53:85:99:1429,0,788 14 21623648 21623648 G A exonic OR5AU1 synonymous SNV OR5AU1:NM_001004731:exon1:c.C537T:p.N179N 0.35 0.32 0.35 0.14 0.58 0.37 0.4791 0.3557 0.2837 0.1256 0.5783 0.5902 0.5188 0.3876 0.51 0.36 0.58 0.39 0.45 rs7161544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4729 0.3580 0.3001 0.5329 0.1308 0.5751 0.5888 0.5300 0.3890 0.4909 0.3661 0.3349 0.5232 0.1419 0.5848 0.5843 0.5377 het 719.12 98 14 21623648 . G A 719.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.955;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=0.793;QD=7.34;ReadPosRankSum=0.499;VQSLOD=6.2089;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,31:98:99:749,0,1780 14 21623836 21623836 G A exonic OR5AU1 nonsynonymous SNV OR5AU1:NM_001004731:exon1:c.C349T:p.L117F 0.66 0.67 0.69 0.49 0.76 0.72 0.7147 0.6642 0.6124 0.4487 0.7184 0.7694 0.75 0.7321 0.74 0.67 0.78 0.64 0.69 rs4982419 COSM4419436 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.013 0.538 D 1.0 0.899 D 1.0 0.971 D . . . 0.000 0.508 P 2.01 0.549 M 6.89 0.005 T -3.51 0.683 D 0.282 0.360 -1.212 0.001 T 0.000 0.000 T . . . 4.188 0.561 23.8 0.999 0.957 0.890 0.489 D c 0.300 0.228 0.999 0.394 0.487 0.133 0 4.34 0.511 2.069 0.409 0.896 0.411 1.000 0.715 0.907 0.385 14.412 0.665 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7110 0.6636 0.6255 0.7629 0.4451 0.7115 0.7718 0.7475 0.7330 0.7063 0.6721 0.6160 0.7815 0.4338 0.7115 0.7573 0.7133 hom 3809.44 107 14 21623836 . G A 3809.44 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9053;MQ=59.78;MQ0=0;QD=35.60;VQSLOD=9.2174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3809,298,0 14 21770730 21770730 A G exonic RPGRIP1 nonsynonymous SNV RPGRIP1:NM_020366:exon4:c.A574G:p.K192E 0.48 0.47 0.51 0.32 0.5 0.6 0.5480 0.4923 0.5927 0.3910 0.5823 0.5445 0.5765 0.6206 0.48 0.45 0.5 0.32 . rs6571751 COSM3999220;COSM3999219 1(haematopoietic_and_lymphoid_tissue) not provided|Benign|Benign|Benign not_provided|not_specified|Cone-Rod_Dystrophy\x2c_Recessive|Leber_congenital_amaurosis RCV000086258.1|RCV000254473.1|RCV000268509.1|RCV000323616.1 MedGen|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN221809|CN169374|CN239309|C0339527:ORPHA65:193413001 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.098 0.025 N 1 0.090 P -0.285 0.037 N 1.51 0.309 T 1.37 0.009 N 0.12 0.134 -0.934 0.436 T 0.000 0.000 T . . . -0.937 0.034 0.022 0.565 0.054 0.003 0.015 N c -1.377 -1.275 1.000 0.517 0.554 0.283 0 3.11 0.347 1.432 0.343 0.074 0.181 0.028 0.201 0.005 0.090 6.557 0.215 . ENSG00000092200.8|ENSG00000092200.8 Heart_Left_Ventricle|Liver 0.5036 0.4559 0.5126 0.4244 0.3270 0.5412 0.5064 0.4906 0.6058 0.4982 0.4629 0.4964 0.4371 0.3271 0.5370 0.5280 0.5195 hom 771 26 14 21770730 . A G 771 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.000;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.333;QD=29.65;ReadPosRankSum=0.667;VQSLOD=13.6825;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,25:26:31.42:804,31,0 14 21790040 21790040 G T exonic RPGRIP1 nonsynonymous SNV RPGRIP1:NM_020366:exon13:c.G1639T:p.A547S 0.17 0.23 0.14 0.004 0.24 0.2 0.2105 0.2091 0.0944 0.0061 0.2780 0.2427 0.2477 0.2345 0.23 0.2 0.25 0.16 . rs10151259 COSM3753875;COSM3753873;COSM5828079;COSM3753874 1(large_intestine) Pathogenic|not provided|Benign|Likely benign|Likely benign Cone-rod_dystrophy_13|not_provided|not_specified|Leber_congenital_amaurosis|Cone-Rod_Dystrophy\x2c_Recessive RCV000005275.4|RCV000086240.1|RCV000174586.3|RCV000272533.1|RCV000327555.1 MedGen:OMIM|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen C2750720:608194|CN221809|CN169374|C0339527:ORPHA65:193413001|CN239309 . . . . . . 0.317 0.302 T 1.0 0.899 D 0.999 0.916 D 0.004 0.340 N 0.984 0.259 P 1.965 0.534 M -0.1 0.794 T -1.71 0.457 N 0.098 0.130 -1.048 0.148 T 0.000 0.001 T . . . 1.217 0.212 11.84 0.995 0.676 0.793 0.390 D c 0.009 -0.052 0.997 0.349 0.554 0.283 0 3.04 0.340 1.167 0.312 0.106 0.201 0.987 0.361 0.279 0.233 5.699 0.170 . . . 0.2013 0.2086 0.1011 0.2067 0.0056 0.2724 0.2393 0.2024 0.2254 0.2266 0.2140 0.1313 0.1788 0.0074 0.2705 0.2535 0.2311 het 525.85 39 14 21790040 . G T 525.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.085;DP=39;Dels=0.00;FS=1.293;HRun=0;HaplotypeScore=0.6651;MQ=59.04;MQ0=0;MQRankSum=-2.208;QD=13.48;ReadPosRankSum=0.188;VQSLOD=5.2260;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,24:39:99:556,0,399 14 21792811 21792811 G A exonic RPGRIP1 synonymous SNV RPGRIP1:NM_020366:exon14:c.G1797A:p.P599P 0.18 0.24 0.14 0.019 0.23 0.26 0.2126 0.2226 0.0939 0.0187 0.2635 0.2353 0.2444 0.2773 0.23 0.21 0.24 0.18 . rs9322965 . . not provided|Benign|Likely benign|Likely benign not_provided|not_specified|Leber_congenital_amaurosis|Cone-Rod_Dystrophy\x2c_Recessive RCV000086242.1|RCV000242289.2|RCV000273765.1|RCV000386842.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen CN221809|CN169374|C0339527:ORPHA65:193413001|CN239309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2074 0.2256 0.1044 0.1863 0.0157 0.2596 0.2383 0.2107 0.2746 0.2282 0.2320 0.1360 0.1556 0.0167 0.2639 0.2470 0.2310 het 2423.79 192 14 21792811 . G A 2423.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.927;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7253;MQ=59.01;MQ0=1;MQRankSum=0.541;QD=12.62;ReadPosRankSum=0.065;VQSLOD=4.9507;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,94:192:99:2454,0,2256 14 21829129 21829129 C G exonic SUPT16H synonymous SNV SUPT16H:NM_007192:exon17:c.G1932C:p.G644G 0.87 0.81 0.82 0.89 0.93 0.92 0.8979 0.8084 0.7454 0.8790 0.8933 0.9357 0.9031 0.9201 0.9 0.82 0.94 0.87 0.87 rs3762158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8936 0.8063 0.7604 0.9617 0.8732 0.8900 0.9357 0.9075 0.9189 0.8814 0.8186 0.7816 0.9470 0.8529 0.8937 0.9205 0.9082 hom 3992.61 128 14 21829129 . C G 3992.61 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9279;MQ=59.23;MQ0=0;QD=31.19;VQSLOD=9.5615;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:3992,301,0 14 21831052 21831052 T C exonic SUPT16H synonymous SNV SUPT16H:NM_007192:exon14:c.A1566G:p.P522P 0.8 0.57 0.78 0.89 0.91 0.92 0.8613 0.6174 0.7349 0.8792 0.8653 0.9068 0.8811 0.9080 0.81 0.63 0.91 0.8 0.81 rs10138699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8613 0.6160 0.7460 0.9366 0.8730 0.8614 0.9073 0.8846 0.9070 0.8077 0.6247 0.7518 0.9040 0.8527 0.8647 0.8929 0.8707 hom 3416.54 112 14 21831052 . T C 3416.54 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8650;MQ=58.88;MQ0=0;QD=30.50;VQSLOD=8.5746;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3416,289,0 14 21859687 21859687 G A exonic CHD8 nonsynonymous SNV CHD8:NM_001170629:exon35:c.C7000T:p.R2334W,CHD8:NM_020920:exon36:c.C6163T:p.R2055W 0.0002 . . . 0.001 . 1.677e-05 0 0 0 0 3.021e-05 0 0 . . . . . rs75084078 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.965 0.695 D 0.001 0.393 N 1.000 0.537 D 2.05 0.567 M 0.8 0.488 T -4.77 0.812 D 0.805 0.794 -0.668 0.620 T 0.241 0.609 T 0.027 0.499 D 7.180 0.945 34 0.999 0.990 0.960 0.669 D c 0.644 0.653 1.000 0.411 0.707 0.730 0 5.42 0.786 2.478 0.446 1.048 0.713 0.990 0.367 1.000 0.888 18.153 0.896 BRK domain . . 1.627e-05 0 2.982e-05 0 0 0 1.793e-05 0 3.253e-05 . . . . . . . . het 1166.43 76 14 21859687 . G A 1166.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.834;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.70;MQ0=0;MQRankSum=1.341;QD=15.35;ReadPosRankSum=-1.708;VQSLOD=5.7518;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,43:76:99:1196,0,837 14 21871653 21871653 C T exonic CHD8 synonymous SNV CHD8:NM_001170629:exon16:c.G3477A:p.V1159V,CHD8:NM_020920:exon17:c.G2640A:p.V880V 0.91 0.95 0.81 0.89 0.93 0.92 0.9093 0.9411 0.7504 0.8784 0.8929 0.9349 0.9101 0.9194 0.94 0.95 0.94 0.92 . rs8022395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9026 0.9418 0.7662 0.9626 0.8735 0.8897 0.9350 0.9146 0.9184 0.9174 0.9449 0.7943 0.9536 0.8552 0.8938 0.9202 0.9121 hom 1340.73 48 14 21871653 . C T 1340.73 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=57.40;MQ0=0;QD=27.93;VQSLOD=7.3744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1374,111,0 14 21967916 21967916 A G exonic METTL3 synonymous SNV METTL3:NM_019852:exon7:c.T1335C:p.N445N 0.51 0.57 0.63 0.35 0.5 0.52 0.5179 0.5395 0.7225 0.3617 0.4695 0.5068 0.5297 0.5065 0.51 0.53 0.5 0.45 0.57 rs1139130 COSM3999223 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5249 0.5394 0.7068 0.6707 0.3639 0.4811 0.4938 0.5411 0.5049 0.5101 0.5466 0.6862 0.6523 0.3907 0.4725 0.4985 0.5010 hom 3732.03 133 14 21967916 . A G 3732.03 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5518;MQ=58.24;MQ0=0;QD=28.06;VQSLOD=7.8941;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3732,280,0 14 21972019 21972019 G A exonic METTL3 nonsynonymous SNV METTL3:NM_019852:exon2:c.C106T:p.R36W 0.0012 0.0008 . . 0.005 . 0.0027 0.0010 0.0026 0 0.0011 0.0041 0.0056 0 0.0035 0.0009 0.0048 . . rs139460746 . . . . . . . . . . . . . 0.016 0.518 D 0.01 0.486 B 0.003 0.465 B 0.001 0.390 N 0.996 0.429 D 0.69 0.170 N 1.39 0.338 T -1.26 0.318 N 0.343 0.408 -1.125 0.020 T 0.040 0.174 T 0.009 0.249 T 4.373 0.585 24.1 0.999 0.973 0.937 0.586 D c -0.263 -0.112 0.997 0.355 0.707 0.730 0 3.29 0.366 1.952 0.397 0.079 0.188 1.000 0.715 0.967 0.454 12.470 0.549 . . . 0.0025 0.0009 0.0018 0.0038 0 0.0008 0.0041 0.0031 3.25e-05 0.0019 0.0003 0.0012 0.0066 0 0.0009 0.0031 0.0041 het 1391.18 95 14 21972019 . G A 1391.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.657;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8564;MQ=59.76;MQ0=0;MQRankSum=-0.352;QD=14.64;ReadPosRankSum=0.299;VQSLOD=4.5774;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,48:95:99:1421,0,1327 14 21993498 21993498 G A exonic SALL2 nonsynonymous SNV SALL2:NM_001291446:exon2:c.C364T:p.P122S,SALL2:NM_001291447:exon2:c.C358T:p.P120S,SALL2:NM_005407:exon2:c.C364T:p.P122S 0.8 0.68 0.86 0.82 0.86 0.83 0.8467 0.7124 0.8451 0.7949 0.9075 0.8675 0.8436 0.8513 0.81 0.71 0.86 0.67 0.73 rs1263811 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8469 0.7027 0.8391 0.8208 0.7959 0.9061 0.8666 0.8415 0.8508 0.8204 0.7058 0.8305 0.8344 0.8105 0.9067 0.8647 0.8561 hom 2964.98 99 14 21993498 . G A 2964.98 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4245;MQ=58.96;MQ0=0;QD=29.95;VQSLOD=9.0183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:99:99:2998,241,0 14 21993638 21993638 G C exonic SALL2 nonsynonymous SNV SALL2:NM_001291446:exon2:c.C224G:p.S75C,SALL2:NM_001291447:exon2:c.C218G:p.S73C,SALL2:NM_005407:exon2:c.C224G:p.S75C 0.073 0.12 0.058 0.0069 0.12 0.05 0.0921 0.1104 0.0517 0.0096 0.1450 0.1097 0.0826 0.0597 0.11 0.11 0.11 0.054 0.098 rs2242527 COSM3753879 1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 0.999 0.899 D 0.908 0.818 P 0.002 0.384 N 0.900 0.372 P 1.905 0.510 L 3.36 0.441 T -2.4 0.823 N 0.256 0.312 -0.988 0.330 T 0.004 0.012 T . . . 4.105 0.551 23.7 0.988 0.454 0.694 0.339 D c 0.412 0.339 1.000 0.747 0.628 0.401 0 4.36 0.515 9.602 0.976 1.048 0.713 1.000 0.715 0.735 0.318 8.149 0.301 . . . 0.0903 0.1131 0.0548 0.1008 0.0094 0.1365 0.1083 0.0857 0.0620 0.1014 0.1059 0.0489 0.1126 0.0093 0.1426 0.1021 0.0988 het 1632.68 103 14 21993638 . G C 1632.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.083;DP=103;Dels=0.00;FS=1.678;HRun=0;HaplotypeScore=2.6002;MQ=59.78;MQ0=0;MQRankSum=0.415;QD=15.85;ReadPosRankSum=-1.204;VQSLOD=5.8627;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,57:103:99:1663,0,1266 14 22038210 22038210 G T exonic OR10G3 synonymous SNV OR10G3:NM_001005465:exon1:c.C666A:p.I222I 0.096 0.16 0.072 0.005 0.15 0.058 0.1121 0.1568 0.0768 0.0038 0.0520 0.1423 0.1068 0.0676 0.15 0.15 0.15 0.13 0.14 rs17792766 COSM4147996 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1109 0.1594 0.0814 0.1857 0.0032 0.0522 0.1462 0.1178 0.0684 0.1213 0.1531 0.0907 0.1589 0.0037 0.0464 0.1357 0.0939 het 2312.80 179 14 22038210 . G T 2312.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.356;DP=179;Dels=0.00;FS=4.140;HRun=1;HaplotypeScore=4.4857;MQ=59.21;MQ0=0;MQRankSum=0.994;QD=12.92;ReadPosRankSum=-0.149;VQSLOD=5.4549;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,82:179:99:2343,0,2884 14 22038562 22038562 T C exonic OR10G3 nonsynonymous SNV OR10G3:NM_001005465:exon1:c.A314G:p.Y105C 0.016 0.0038 0.019 0.001 0.052 0.01 0.0373 0.0097 0.0224 0.0003 0.0174 0.0552 0.0298 0.0202 0.042 0.013 0.057 0.011 0.049 rs45612332 . . . . . . . . . . . . . 0.001 0.784 D 0.996 0.670 D 0.827 0.576 P 0.000 0.452 D 0.586 0.324 D 1.75 0.456 L 4.95 0.014 T -5.39 0.850 D 0.327 0.388 -0.908 0.471 T 0.001 0.004 T . . . 4.410 0.590 24.1 0.997 0.813 0.810 0.402 D c 0.385 0.380 0.000 0.070 0.487 0.133 0 4.57 0.557 0.715 0.253 0.917 0.428 0.996 0.391 1.000 0.888 10.616 0.444 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0378 0.0100 0.0257 0.0823 0.0002 0.0178 0.0559 0.0414 0.0198 0.0314 0.0111 0.0286 0.0530 0.0006 0.0137 0.0503 0.0327 het 1244.75 81 14 22038562 . T C 1244.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.778;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=58.55;MQ0=0;MQRankSum=0.923;QD=15.37;ReadPosRankSum=-0.175;VQSLOD=6.2564;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,43:81:99:1275,0,886 14 22038659 22038659 T C exonic OR10G3 nonsynonymous SNV OR10G3:NM_001005465:exon1:c.A217G:p.S73G 0.71 0.7 0.8 0.73 0.67 0.68 0.6942 0.7084 0.8355 0.7159 0.6103 0.6719 0.7007 0.6986 0.68 0.7 0.67 0.74 0.65 rs17792778 COSM1369062 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.798 0.031 T 0.0 0.026 B 0.0 0.013 B 0.003 0.362 N 1.000 0.090 P -0.165 0.043 N 7.56 0.004 T 0.19 0.050 N 0.045 0.025 -1.026 0.218 T 0.000 0.000 T . . . -0.421 0.060 0.345 0.462 0.036 0.037 0.089 N c -0.906 -0.765 0.000 0.035 0.487 0.133 0 2.63 0.303 -0.931 0.040 -0.012 0.132 0.000 0.063 0.970 0.461 6.886 0.232 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6957 0.7003 0.8214 0.7746 0.7111 0.6094 0.6650 0.7057 0.6947 0.6777 0.7056 0.8086 0.7980 0.7035 0.6034 0.6661 0.6811 het 795.85 66 14 22038659 . T C 795.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.264;DP=66;Dels=0.00;FS=3.325;HRun=1;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;MQRankSum=1.031;QD=12.06;ReadPosRankSum=-0.837;VQSLOD=5.2192;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,28:66:99:826,0,1018 14 22133416 22133416 A G exonic OR4E2 synonymous SNV OR4E2:NM_001001912:exon1:c.A120G:p.S40S 0.47 0.63 0.53 0.36 0.49 0.31 0.4747 0.6027 0.4894 0.3788 0.5039 0.5039 0.4889 0.3080 0.53 0.61 0.5 0.54 0.52 rs12717305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4768 0.6053 0.4926 0.6003 0.3727 0.5028 0.4983 0.5064 0.3124 0.5178 0.6050 0.5143 0.5638 0.3605 0.5029 0.4883 0.4949 het 2691.33 250 14 22133416 . A G 2691.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.654;DP=250;DS;Dels=0.00;FS=0.522;HRun=3;HaplotypeScore=4.5519;MQ=59.42;MQ0=0;MQRankSum=-0.065;QD=10.77;ReadPosRankSum=0.418;VQSLOD=5.5656;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:2721,0,4075 14 22133648 22133648 G A exonic OR4E2 nonsynonymous SNV OR4E2:NM_001001912:exon1:c.G352A:p.V118M 0.72 0.95 0.7 0.5 0.81 0.56 0.7571 0.9144 0.6511 0.5321 0.8512 0.8169 0.7922 0.5731 0.85 0.91 0.82 0.79 0.86 rs2874103 COSM5617787 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7542 0.9166 0.6603 0.8116 0.5278 0.8455 0.8183 0.7847 0.5805 0.8346 0.9206 0.6882 0.8046 0.5237 0.8462 0.8263 0.7959 hom 8406.44 250 14 22133648 . G A 8406.44 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4893;MQ=59.48;MQ0=0;QD=33.63;VQSLOD=8.6587;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8405,701,0 14 22133997 22133997 A G exonic OR4E2 nonsynonymous SNV OR4E2:NM_001001912:exon1:c.A701G:p.Q234R 0.72 0.95 0.7 0.5 0.82 0.56 0.7578 0.9197 0.6506 0.5326 0.8511 0.8172 0.7924 0.5745 0.85 0.92 0.82 0.79 0.86 rs970382 COSM5445681 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7546 0.9221 0.6602 0.8119 0.5281 0.8451 0.8185 0.7841 0.5806 0.8361 0.9269 0.6863 0.8046 0.5230 0.8461 0.8263 0.7935 hom 3124.77 99 14 22133997 . A G 3124.77 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;QD=31.56;VQSLOD=9.4183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3158,259,0 14 22134018 22134018 C T exonic OR4E2 nonsynonymous SNV OR4E2:NM_001001912:exon1:c.C722T:p.S241L 0.14 0.25 0.16 0.005 0.2 0.043 0.1647 0.2458 0.1039 0.0045 0.1278 0.2124 0.1567 0.0630 0.22 0.23 0.21 0.17 0.24 rs61732411 COSM5905015 1(skin) . . . . . . . . . . . 0.023 0.481 D 0.497 0.352 P 0.16 0.331 B 0.119 0.191 U 0.971 0.256 P 1 0.253 L 1.29 0.358 T -2.79 0.590 D 0.198 0.243 -1.063 0.111 T 0.000 0.000 T . . . 3.824 0.516 23.4 0.997 0.826 0.200 0.207 N c -0.158 -0.140 0.001 0.081 0.487 0.133 0 4.79 0.608 0.296 0.187 0.935 0.490 0.000 0.063 0.955 0.433 13.030 0.581 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.1602 0.2507 0.1128 0.2717 0.0040 0.1248 0.2095 0.1824 0.0629 0.1878 0.2487 0.1360 0.2550 0.0056 0.1203 0.1903 0.1745 het 1384.83 91 14 22134018 . C T 1384.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.650;DP=91;Dels=0.00;FS=1.725;HRun=1;HaplotypeScore=4.1638;MQ=59.34;MQ0=0;MQRankSum=0.460;QD=15.22;ReadPosRankSum=0.764;VQSLOD=5.2032;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,51:91:99:1415,0,997 14 23236524 23236524 C T exonic OXA1L nonsynonymous SNV OXA1L:NM_005015:exon2:c.C311T:p.A104V 0.77 0.55 0.91 0.87 0.85 0.79 0.8280 0.6044 0.9310 0.8783 0.7483 0.8496 0.8315 0.8141 0.77 0.62 0.85 0.79 0.78 rs8572 . . . . . . . . . . . . . 0.047 0.403 D 0.001 0.067 B 0.001 0.040 B 0.342 0.139 N 1 0.090 P . . . 1.42 0.332 T -0.66 0.229 N 0.034 0.020 -1.081 0.072 T 0.000 0.000 T . . . 0.754 0.166 9.174 0.976 0.342 0.026 0.071 N c -1.256 -1.281 1.000 0.747 0.442 0.072 0 1.35 0.210 -0.030 0.122 -0.862 0.028 0.000 0.063 0.000 0.016 5.408 0.155 . . . 0.8335 0.6047 0.9209 0.8355 0.8821 0.7453 0.8526 0.8549 0.8148 0.7672 0.6055 0.9021 0.8411 0.8922 0.7290 0.8444 0.8136 hom 1860.69 57 14 23236524 . C T 1860.69 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.60;MQ0=0;QD=32.64;VQSLOD=9.2971;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1894,165,0 14 23240328 23240328 T A exonic OXA1L synonymous SNV OXA1L:NM_005015:exon8:c.T1221A:p.R407R 0.2 0.07 0.21 0.15 0.26 0.37 0.2449 0.0942 0.2101 0.1196 0.2227 0.2633 0.2687 0.3634 0.22 0.1 0.28 0.13 0.22 rs8786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2458 0.0942 0.2071 0.2285 0.1225 0.2245 0.2714 0.2531 0.3591 0.2112 0.1025 0.2053 0.2533 0.1335 0.2127 0.2794 0.2505 hom 3864.75 117 14 23240328 . T A 3864.75 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;QD=33.03;VQSLOD=9.5189;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:117:99:3864,307,0 14 23240713 23240713 - AGC exonic OXA1L nonframeshift insertion OXA1L:NM_005015:exon10:c.1434_1435insAGC:p.S482_K483insS 0.21 0.16 0.21 0.15 0.24 0.32 0.2581 0.1959 0.2266 0.1201 0.2245 0.2671 0.2930 0.3671 0.25 0.2 0.28 . . rs57267429 COSM4603260 4(upper_aerodigestive_tract);4(central_nervous_system) Benign not_specified RCV000454564.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2568 0.2012 0.2196 0.2377 0.1234 0.2249 0.2746 0.2715 0.3621 0.2426 0.2056 0.2267 0.2550 0.1309 0.2147 0.2819 0.2628 hom 10916.66 246 14 23240713 . T TAGC 10916.66 Mask AC=2;AF=1.00;AN=2;DP=246;DS;FS=0.000;HRun=0;HaplotypeScore=744.9536;MQ=56.33;MQ0=1;QD=43.67;set=variant2 GT:AD:DP:GQ:PL 1/1:76,163:246:99:10917,548,0 14 23242828 23242828 T C exonic SLC7A7 synonymous SNV SLC7A7:NM_001126105:exon11:c.A1527G:p.K509K,SLC7A7:NM_001126106:exon11:c.A1527G:p.K509K 0.79 0.45 0.9 0.93 0.9 0.89 0.8651 0.5077 0.9409 0.9324 0.8613 0.8923 0.8819 0.8924 0.77 0.51 0.9 0.66 0.9 rs1061040 . . Benign|Benign not_specified|Lysinuric_protein_intolerance RCV000128147.2|RCV000398235.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268647:222700:ORPHA470:303852004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8770 0.5073 0.9389 0.9172 0.9340 0.8626 0.8938 0.8848 0.8965 0.7875 0.5119 0.9248 0.9371 0.9448 0.8698 0.8968 0.8497 hom 1761.99 51 14 23242828 . T C 1761.99 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.55;VQSLOD=14.3197;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1795,141,0 14 23248112 23248112 A G exonic SLC7A7 synonymous SNV SLC7A7:NM_001126105:exon5:c.T660C:p.G220G,SLC7A7:NM_001126106:exon5:c.T660C:p.G220G 0.24 0.29 0.27 0.34 0.14 0.15 0.1813 0.2610 0.3784 0.3524 0.1535 0.1319 0.1585 0.1166 0.17 0.26 0.13 0.18 0.057 rs1805061 COSM5618821 1(breast) Benign|Benign not_specified|Lysinuric_protein_intolerance RCV000128146.2|RCV000386522.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268647:222700:ORPHA470:303852004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1842 0.2579 0.3606 0.0931 0.3507 0.1426 0.1313 0.1734 0.1157 0.1863 0.2578 0.3441 0.1026 0.3468 0.1469 0.1318 0.1538 het 693.48 60 14 23248112 . A G 693.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.562;DP=60;Dels=0.00;FS=14.684;HRun=0;HaplotypeScore=3.9035;MQ=59.30;MQ0=0;MQRankSum=-1.070;QD=11.56;ReadPosRankSum=-1.753;VQSLOD=3.0760;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:723,0,920 14 23282110 23282110 A G exonic SLC7A7 synonymous SNV SLC7A7:NM_001126105:exon3:c.T498C:p.I166I,SLC7A7:NM_001126106:exon3:c.T498C:p.I166I 0.58 0.49 0.68 0.78 0.52 0.49 0.5603 0.4901 0.7214 0.7935 0.5546 0.5373 0.5348 0.4620 0.51 0.47 0.53 0.53 0.48 rs8018462 COSM5450824 1(large_intestine) Benign|Benign not_specified|Lysinuric_protein_intolerance RCV000128149.2|RCV000333159.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268647:222700:ORPHA470:303852004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5666 0.4801 0.7084 0.5474 0.7899 0.5545 0.5344 0.5410 0.4609 0.5351 0.4713 0.7158 0.5331 0.8014 0.5487 0.5311 0.5186 het 1269.42 95 14 23282110 . A G 1269.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.892;DP=95;Dels=0.00;FS=2.305;HRun=0;HaplotypeScore=1.5317;MQ=60.00;MQ0=0;MQRankSum=-0.101;QD=13.36;ReadPosRankSum=-0.310;VQSLOD=5.8698;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,44:95:99:1299,0,1411 14 23299286 23299286 T C exonic MRPL52 nonsynonymous SNV MRPL52:NM_001318870:exon2:c.T53C:p.V18A,MRPL52:NM_178336:exon2:c.T56C:p.V19A,MRPL52:NM_180982:exon2:c.T53C:p.V18A,MRPL52:NM_181307:exon2:c.T56C:p.V19A 0.87 0.83 0.87 1. 0.84 0.81 0.8520 0.8356 0.8873 0.9985 0.8761 0.8459 0.8415 0.7764 0.84 0.83 0.84 0.67 0.6 rs4982685 . . . . . . . . . . . . . 1.0 0.059 T 0.0 0.026 B 0.0 0.013 B 0.933 0.084 N 1 0.196 P -1.26 0.008 N 1.71 0.267 T 0.34 0.038 N 0.043 0.507 -1.003 0.291 T 0.000 0.000 T . . . -1.656 0.014 0.002 0.539 0.049 0.001 0.008 N c -1.457 -1.401 1.000 0.747 0.442 0.072 0 -0.46 0.115 -0.337 0.078 -0.680 0.039 0.001 0.137 0.158 0.207 4.686 0.121 . ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8539 0.8334 0.8848 0.8299 0.9983 0.8789 0.8455 0.8457 0.7704 0.8537 0.8308 0.8962 0.8233 0.9969 0.8826 0.8438 0.8432 hom 1060.60 33 14 23299286 . T C 1060.60 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.14;VQSLOD=14.1382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:84.27:1094,84,0 14 23306048 23306048 C T exonic MMP14 nonsynonymous SNV MMP14:NM_004995:exon1:c.C22T:p.P8S 0.87 0.83 0.87 1. 0.84 0.81 0.8573 0.8393 0.8891 0.9986 0.8789 0.8497 0.8470 0.7937 0.83 0.83 0.84 0.89 0.64 rs1042703 COSM432856 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.927 0.084 N 1 0.090 P 0 0.065 N 2.55 0.138 T 0.68 0.022 N 0.027 0.277 -0.993 0.319 T 0.000 0.000 T . . . 1.449 0.237 13.05 0.972 0.323 0.029 0.075 N c -0.971 -0.824 1.000 0.747 0.442 0.072 0 2.51 0.293 -0.424 0.070 -0.366 0.067 0.018 0.193 0.954 0.431 1.727 0.027 . ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14|ENSG00000172590.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8555 0.8324 0.8860 0.8325 0.9983 0.8801 0.8471 0.8480 0.7742 0.8528 0.8284 0.8959 0.8212 0.9969 0.8833 0.8431 0.8447 hom 1505.24 49 14 23306048 . C T 1505.24 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7131;MQ=59.15;MQ0=0;QD=30.72;VQSLOD=8.1984;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,48:49:99:1538,117,0 14 23312923 23312923 T C exonic MMP14 synonymous SNV MMP14:NM_004995:exon6:c.T855C:p.G285G 0.27 0.33 0.17 0.36 0.2 0.25 0.2250 0.3085 0.1120 0.3823 0.1627 0.2138 0.2225 0.2401 0.24 0.3 0.21 0.25 0.21 rs2236307 COSM5425314 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2159 0.3131 0.1257 0.1919 0.3759 0.1629 0.2109 0.2091 0.2273 0.2323 0.3070 0.1286 0.1788 0.3799 0.1641 0.1970 0.2124 hom 3918.98 134 14 23312923 . T C 3918.98 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6801;MQ=58.77;MQ0=0;QD=29.25;VQSLOD=8.4384;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:3918,319,0 14 23371255 23371255 - GGC exonic RBM23 nonframeshift insertion RBM23:NM_001077352:exon10:c.1077_1078insGCC:p.A359_Q360insA,RBM23:NM_001308044:exon10:c.669_670insGCC:p.A223_Q224insA,RBM23:NM_018107:exon11:c.1131_1132insGCC:p.A377_Q378insA,RBM23:NM_001077351:exon12:c.1179_1180insGCC:p.A393_Q394insA 0.52 0.029 0.64 0.84 0.64 0.66 0.5538 0.1150 0.6159 0.7518 0.6693 0.5685 0.6166 0.5662 0.46 0.15 0.61 0.011 . rs61680322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5462 0.1080 0.5860 0.5241 0.7299 0.6445 0.5528 0.5427 0.5468 0.4844 0.1250 0.6184 0.5728 0.8164 0.6797 0.5981 0.5936 hom 5639.54 132 14 23371255 . G GGGC 5639.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.427;DP=132;DS;FS=6.799;HRun=0;HaplotypeScore=374.8232;MQ=62.88;MQ0=0;MQRankSum=-0.327;QD=42.72;ReadPosRankSum=0.056;set=variant2 GT:AD:DP:GQ:PL 1/1:26,105:132:99:5640,302,0 14 23374435 23374435 G A exonic RBM23 synonymous SNV RBM23:NM_001077352:exon6:c.C492T:p.I164I,RBM23:NM_001308044:exon6:c.C84T:p.I28I,RBM23:NM_018107:exon7:c.C546T:p.I182I,RBM23:NM_001077351:exon8:c.C594T:p.I198I 0.52 0.036 0.61 0.8 0.58 0.74 0.5803 0.1182 0.6693 0.7878 0.5716 0.5734 0.6004 0.7136 0.42 0.13 0.56 0.41 0.59 rs2295680 COSM4147999 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5883 0.1118 0.6508 0.5502 0.7892 0.5740 0.5764 0.5806 0.7114 0.4612 0.1235 0.6280 0.5199 0.7828 0.5756 0.5796 0.5662 hom 4927.74 149 14 23374435 . G A 4927.74 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.31;MQ0=0;QD=33.07;VQSLOD=10.1369;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4927,391,0 14 23374862 23374862 C T exonic RBM23 synonymous SNV RBM23:NM_018107:exon5:c.G360A:p.R120R,RBM23:NM_001077351:exon6:c.G408A:p.R136R 0.52 0.034 0.61 0.8 0.58 0.74 0.5805 0.1179 0.6692 0.7882 0.5718 0.5737 0.6024 0.7137 0.43 0.14 0.56 0.41 0.54 rs2295682 COSM4148000 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5883 0.1114 0.6509 0.5502 0.7893 0.5737 0.5765 0.5810 0.7114 0.4614 0.1237 0.6280 0.5199 0.7787 0.5759 0.5798 0.5679 hom 2040.65 67 14 23374862 . C T 2040.65 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=30.46;VQSLOD=9.5712;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2074,166,0 14 23375564 23375564 G A exonic RBM23 nonsynonymous SNV RBM23:NM_001077352:exon4:c.C193T:p.R65W,RBM23:NM_018107:exon4:c.C193T:p.R65W,RBM23:NM_001077351:exon5:c.C241T:p.R81W 0.014 0.003 0.026 . 0.044 0.0061 0.0281 0.0094 0.0225 0 0.0204 0.0407 0.0434 0.0090 0.029 0.011 0.038 0.011 0.049 rs72681969 COSM5618314 1(breast) . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.861 0.595 P 0.010 0.301 N 0.921 0.810 D 2.485 0.726 M -1.32 0.798 T -4.87 0.964 D 0.24 0.402 -0.287 0.754 T 0.204 0.562 T . . . 7.333 0.949 34 0.999 0.964 0.937 0.586 D c 0.366 0.368 1.000 0.747 0.707 0.730 0 4.83 0.617 2.335 0.433 0.884 0.388 0.990 0.367 0.992 0.562 15.184 0.726 . . . 0.0290 0.0082 0.0263 0.0399 5.8e-05 0.0210 0.0430 0.0372 0.0083 0.0249 0.0088 0.0334 0.0430 0 0.0212 0.0366 0.0306 het 2187.73 153 14 23375564 . G A 2187.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.850;DP=153;Dels=0.00;FS=3.901;HRun=1;HaplotypeScore=2.6871;MQ=59.48;MQ0=0;MQRankSum=1.002;QD=14.30;ReadPosRankSum=-0.217;VQSLOD=5.4353;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,79:153:99:2218,0,1851 14 23518918 23518918 T C exonic CDH24 synonymous SNV CDH24:NM_144985:exon10:c.A1515G:p.R505R,CDH24:NM_022478:exon11:c.A1629G:p.R543R 0.12 0.02 0.14 0.004 0.26 0.2 0.1917 0.0496 0.0957 0.0063 0.2429 0.2413 0.2179 0.2268 0.18 0.057 0.24 0.13 0.16 rs11623976 COSM3753888;COSM3753887 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1859 0.0465 0.0999 0.2095 0.0069 0.2444 0.2366 0.1885 0.2172 0.1689 0.0496 0.1241 0.2517 0.0055 0.2364 0.2398 0.1908 het 891.66 70 14 23518918 . T C 891.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.984;DP=70;Dels=0.00;FS=15.328;HRun=1;HaplotypeScore=4.5948;MQ=58.13;MQ0=0;MQRankSum=-0.271;QD=12.74;ReadPosRankSum=0.706;VQSLOD=2.6090;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,31:70:99:922,0,959 14 23548787 23548787 - GTGAAT exonic ACIN1 nonframeshift insertion ACIN1:NM_001164815:exon5:c.1810_1811insATTCAC:p.S603_R604insHS,ACIN1:NM_001164814:exon6:c.1930_1931insATTCAC:p.S643_R644insHS,ACIN1:NM_014977:exon6:c.1930_1931insATTCAC:p.S643_R644insHS . . . . . . 0.1433 0.0898 0.0749 0.0020 0.1686 0.1593 0.1498 0.2237 . . . . . rs55838227 COSM128739 1(bone);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1411 0.0881 0.0805 0.1452 0.0021 0.1669 0.1595 0.1301 0.2265 0.1304 0.0906 0.0990 0.1233 0.0019 0.1609 0.1611 0.1477 hom 21931.26 249 14 23548787 . C CGTGAAT 21931.26 Mask AC=2;AF=1.00;AN=2;DP=249;DS;FS=0.000;HRun=0;HaplotypeScore=1000.2114;MQ=42.58;MQ0=0;QD=87.73;set=variant2 GT:AD:DP:GQ:PL 1/1:22,202:249:99:21931,722,0 14 23549319 23549319 A G exonic ACIN1 nonsynonymous SNV ACIN1:NM_001164815:exon5:c.T1279C:p.S427P,ACIN1:NM_001164814:exon6:c.T1399C:p.S467P,ACIN1:NM_014977:exon6:c.T1399C:p.S467P 0.43 0.48 0.36 0.39 0.38 0.5 0.4226 0.5004 0.3458 0.3538 0.3457 0.4161 0.4106 0.5211 0.45 0.51 0.41 0.42 0.24 rs1885097 COSM3753892 1(large_intestine) . . . . . . . . . . . 0.019 0.506 D 0.001 0.090 B 0.004 0.093 B 0.156 0.178 N 1.000 0.182 P 0.205 0.094 N 1.9 0.235 T -1.01 0.266 N 0.429 0.485 -0.926 0.447 T 0.000 0.000 T . . . 0.337 0.126 6.042 0.851 0.152 0.043 0.098 N c -0.842 -0.835 1.000 0.405 0.707 0.730 0 -0.281 0.122 -0.223 0.091 1.199 0.960 0.012 0.185 0.202 0.218 7.160 0.247 . ENSG00000179933.4 Cells_Transformed_fibroblasts 0.4145 0.5011 0.3475 0.4260 0.3500 0.3465 0.4161 0.4013 0.5231 0.4213 0.5112 0.3747 0.4067 0.3335 0.3378 0.4016 0.4090 hom 5603.51 170 14 23549319 . A G 5603.51 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5897;MQ=59.16;MQ0=0;QD=32.96;VQSLOD=7.2115;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,169:170:99:5603,445,0 14 23549379 23549379 C G exonic ACIN1 nonsynonymous SNV ACIN1:NM_001164815:exon5:c.G1219C:p.A407P,ACIN1:NM_001164814:exon6:c.G1339C:p.A447P,ACIN1:NM_014977:exon6:c.G1339C:p.A447P 1. 1. 1. 1. 1. 1. 0.9972 0.9990 0.9990 0.9999 0.9977 0.9957 0.9989 0.9992 1. 1. 1. 0.91 0.97 rs941719 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.392 N 1.000 0.215 P -0.805 0.016 N 2.71 0.121 T 0.57 0.026 N 0.158 0.269 -0.939 0.427 T 0.000 0.000 T . . . 1.541 0.247 13.53 0.439 0.033 0.027 0.072 N c -0.647 -0.352 1.000 0.747 0.722 0.854 0 5.42 0.786 2.834 0.476 0.136 0.221 1.000 0.715 0.998 0.697 12.280 0.539 . . . 0.9975 0.9995 0.9991 0.9997 0.9998 0.9977 0.9956 0.9973 0.9992 0.9973 0.9994 0.9988 1 0.9994 0.9986 0.9953 0.9990 hom 4505.99 135 14 23549379 . C G 4505.99 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=59.00;MQ0=0;QD=33.38;VQSLOD=9.4079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4505,355,0 14 23549380 23549380 G A exonic ACIN1 synonymous SNV ACIN1:NM_001164815:exon5:c.C1218T:p.P406P,ACIN1:NM_001164814:exon6:c.C1338T:p.P446P,ACIN1:NM_014977:exon6:c.C1338T:p.P446P 0.11 0.088 0.12 0.004 0.16 0.17 0.1448 0.1126 0.0760 0.0022 0.1689 0.1596 0.1509 0.2180 0.0028 0.0011 0.0036 . 0.11 rs1885098 COSM3753893 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1423 0.1109 0.0823 0.1453 0.0023 0.1670 0.1599 0.1320 0.2209 0.1364 0.1090 0.1014 0.1291 0.0012 0.1623 0.1620 0.15 hom 4446.21 135 14 23549380 . G A 4446.21 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.00;MQ0=0;QD=32.93;VQSLOD=9.0966;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4446,358,0 14 23549785 23549785 T C exonic ACIN1 nonsynonymous SNV ACIN1:NM_001164815:exon5:c.A813G:p.I271M,ACIN1:NM_001164814:exon6:c.A933G:p.I311M,ACIN1:NM_014977:exon6:c.A933G:p.I311M 0.5 0.69 0.37 0.46 0.38 0.51 0.4434 0.6545 0.3526 0.4302 0.3508 0.4167 0.4196 0.5274 0.49 0.65 0.41 0.54 0.25 rs3811182 COSM3753894 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.635 0.106 N 1 0.090 P -0.345 0.033 N 2.34 0.164 T 0.27 0.045 N 0.041 0.021 -1.013 0.259 T 0.000 0.000 T . . . -2.506 0.003 0.001 0.057 0.000 0.002 0.010 N c -1.782 -1.737 1.000 0.409 0.722 0.854 0 0.113 0.139 -3.205 0.006 -1.038 0.021 0.000 0.063 0.120 0.196 3.209 0.062 . ENSG00000179933.4 Cells_Transformed_fibroblasts 0.4323 0.6601 0.3541 0.4261 0.4271 0.3503 0.4166 0.4112 0.5290 0.4693 0.6640 0.3828 0.4033 0.4141 0.3401 0.4019 0.4160 hom 5585.34 176 14 23549785 . T C 5585.34 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6208;MQ=59.13;MQ0=0;QD=31.73;VQSLOD=9.4472;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5585,424,0 14 23598952 23598952 A G exonic SLC7A8 synonymous SNV SLC7A8:NM_001267037:exon6:c.T498C:p.Y166Y,SLC7A8:NM_001267036:exon7:c.T855C:p.Y285Y,SLC7A8:NM_182728:exon7:c.T561C:p.Y187Y,SLC7A8:NM_012244:exon9:c.T1170C:p.Y390Y 0.67 0.72 0.69 0.81 0.54 0.58 0.6096 0.6957 0.7487 0.8031 0.5641 0.5473 0.6013 0.6267 0.59 0.69 0.54 0.69 0.56 rs7157021 . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . . . . . . -1.017 0.246 T 0.000 0.000 T . . . -0.663 0.047 0.088 0.619 0.066 0.038 0.091 N c -0.944 -1.021 1.000 0.489 0.672 0.522 0 -3.17 0.049 -1.091 0.035 -2.738 0.002 0.005 0.169 0.821 0.343 14.873 0.700 . . . 0.6096 0.6968 0.7312 0.5191 0.8021 0.5605 0.5463 0.5790 0.6255 0.5970 0.6833 0.7010 0.5232 0.7901 0.5525 0.5361 0.5357 het 2540.94 249 14 23598952 . A G 2540.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.540;DP=249;DS;Dels=0.00;FS=10.541;HRun=0;HaplotypeScore=2.6475;MQ=59.39;MQ0=0;MQRankSum=-0.218;QD=10.20;ReadPosRankSum=-0.184;VQSLOD=4.5374;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:147,101:249:99:2571,0,4106 14 23745533 23745533 C T exonic HOMEZ nonsynonymous SNV HOMEZ:NM_020834:exon2:c.G904A:p.A302T . . . . . . 0.3890 0.3970 0.2439 0.3189 0.4258 0.4264 0.4239 0.3541 0.41 0.38 0.43 0.41 . rs10131813 COSM147743 1(stomach) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.395 N 1.000 0.207 P -2.175 0.001 N 2.05 0.207 T 0.87 0.017 N 0.007 0.003 -0.971 0.371 T 0.000 0.000 T . . . -1.416 0.019 0.003 0.532 0.048 0.288 0.234 N c -1.382 -1.207 0.890 0.258 0.660 0.495 0 -2.58 0.058 -0.136 0.103 0.139 0.223 0.933 0.321 0.999 0.750 6.365 0.205 . . . 0.3822 0.4013 0.2511 0.4313 0.3160 0.4110 0.4260 0.3812 0.3579 0.4078 0.3907 0.2590 0.4570 0.3091 0.4037 0.4351 0.4334 het 804.56 63 14 23745533 . C T 804.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.296;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4314;MQ=57.46;MQ0=0;MQRankSum=-0.049;QD=12.77;ReadPosRankSum=0.082;VQSLOD=4.5910;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:30,29:63:99:835,0,658 14 23777374 23777374 A G exonic BCL2L2;BCL2L2-PABPN1 nonsynonymous SNV BCL2L2:NM_001199839:exon3:c.A398G:p.Q133R,BCL2L2-PABPN1:NM_001199864:exon3:c.A398G:p.Q133R,BCL2L2:NM_004050:exon3:c.A398G:p.Q133R 1. 1. 1. 1. 1. 1. 0.9979 0.9994 0.9993 1 0.9995 0.9965 1 0.9993 1. 1. 1. 1. 0.77 rs910332 COSM4148013 1(thyroid) . . . . . . . . . . . 0.187 0.228 T 0.0 0.026 B 0.0 0.040 B 0.625 0.107 N 1 0.090 P 0.11 0.085 N 1.1 0.390 T -0.17 0.158 N 0.053 0.293 -1.011 0.267 T 0.000 0.000 T . . . -0.797 0.040 0.043 0.603 0.063 0.442 0.270 N c -1.007 -0.848 1.000 0.416 0.644 0.439 0 1.43 0.215 2.469 0.445 0.138 0.222 0.967 0.338 0.992 0.562 8.147 0.301 . . . 0.9979 0.9993 0.9993 0.9998 0.9999 0.9995 0.9960 0.9980 0.9992 0.9983 0.9993 0.9988 1 1 1 0.9970 0.9990 hom 1411.69 43 14 23777374 . A G 1411.69 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=58.03;MQ0=0;QD=32.83;VQSLOD=8.6211;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1445,114,0 14 23829490 23829490 C T exonic EFS nonsynonymous SNV EFS:NM_001277174:exon2:c.G19A:p.V7M,EFS:NM_032459:exon2:c.G19A:p.V7M,EFS:NM_005864:exon3:c.G298A:p.V100M 0.0036 0.0015 0.0058 . 0.011 0.001 0.0125 0.0023 0.0024 0 0.0137 0.0196 0.0059 0.0021 0.014 0.0018 0.02 0.022 0.0082 rs2231801 COSM4987127 1(soft_tissue) . . . . . . . . . . . 0.004 0.784 D 0.664 0.421 P 0.246 0.435 B 0.001 0.405 N 0.550 0.321 D 2.255 0.644 M 0.2 0.606 T -1.56 0.395 N 0.15 0.280 -0.573 0.659 T 0.123 0.425 T . . . 5.044 0.679 25.2 0.998 0.897 0.831 0.420 D c 0.109 0.125 0.998 0.362 0.706 0.609 0 4.42 0.526 1.726 0.375 0.932 0.445 0.993 0.376 0.276 0.233 12.681 0.561 SH3 domain . . 0.0115 0.0022 0.0026 0.0080 0 0.0136 0.0200 0.0108 0.0017 0.0136 0.0034 0.0048 0.0066 0 0.0132 0.0216 0.0143 het 599.01 55 14 23829490 . C T 599.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.953;DP=55;Dels=0.00;FS=5.642;HRun=0;HaplotypeScore=1.6988;MQ=60.00;MQ0=0;MQRankSum=0.262;QD=10.89;ReadPosRankSum=0.910;VQSLOD=5.1519;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,23:55:99:629,0,902 14 23848311 23848311 C T exonic CMTM5 synonymous SNV CMTM5:NM_001288744:exon2:c.C198T:p.D66D,CMTM5:NM_138460:exon3:c.C351T:p.D117D,CMTM5:NM_001288746:exon4:c.C552T:p.D184D 0.51 0.85 0.37 0.26 0.47 0.45 0.4590 0.7919 0.2574 0.2550 0.4417 0.4662 0.4393 0.4765 0.57 0.78 0.47 0.55 0.3 rs723840 COSM147744;COSM3753906 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4439 0.7935 0.2688 0.5372 0.2534 0.4382 0.4610 0.4554 0.4777 0.5216 0.7775 0.3329 0.5331 0.2435 0.4424 0.4361 0.4498 het 1355.16 120 14 23848311 . C T 1355.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.183;DP=120;Dels=0.00;FS=3.428;HRun=0;HaplotypeScore=2.9079;MQ=59.81;MQ0=0;MQRankSum=-0.169;QD=11.29;ReadPosRankSum=0.032;VQSLOD=6.1370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,53:120:99:1385,0,1651 14 23854155 23854155 G A exonic MYH6 synonymous SNV MYH6:NM_002471:exon35:c.C5259T:p.A1753A 0.036 0.02 0.039 0.001 0.1 0.026 0.0749 0.0320 0.0321 0 0.0871 0.1066 0.0859 0.0372 0.087 0.032 0.12 0.043 0.11 rs8004990 . . Benign|Benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Atrial_septal_defect|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant RCV000037528.3|RCV000248547.1|RCV000270637.1|RCV000327928.1|RCV000362866.1 MedGen|MedGen|MedGen:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen CN169374|CN230736|C0018817:ORPHA1478|HP:0001639:C0007194:ORPHA217569|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0757 0.0298 0.0352 0.1305 0.0002 0.0854 0.1089 0.0813 0.0389 0.0781 0.0301 0.0430 0.1722 0 0.0899 0.1111 0.0878 het 2313.47 148 14 23854155 . G A 2313.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.223;DP=148;Dels=0.00;FS=6.089;HRun=0;HaplotypeScore=1.8110;MQ=59.69;MQ0=0;MQRankSum=-1.101;QD=15.63;ReadPosRankSum=-0.216;VQSLOD=4.7997;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,79:148:99:2343,0,1707 14 23855320 23855320 G A exonic MYH6 synonymous SNV MYH6:NM_002471:exon34:c.C4980T:p.D1660D 0.036 0.021 0.039 0.001 0.1 0.026 0.0750 0.0324 0.0327 0 0.0876 0.1067 0.0859 0.0373 0.088 0.033 0.12 0.033 0.11 rs382872 . . Benign|Benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy|Atrial_septal_defect|Dilated_Cardiomyopathy\x2c_Dominant RCV000037524.3|RCV000253927.1|RCV000281529.1|RCV000338861.1|RCV000373702.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:Orphanet|MedGen CN169374|CN230736|HP:0001639:C0007194:ORPHA217569|C0018817:ORPHA1478|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0758 0.0302 0.0356 0.1304 0.0002 0.0855 0.1090 0.0815 0.0389 0.0782 0.0306 0.0442 0.1722 0 0.0897 0.1111 0.0878 het 1319.47 95 14 23855320 . G A 1319.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.858;DP=95;Dels=0.00;FS=4.236;HRun=0;HaplotypeScore=2.6631;MQ=58.96;MQ0=0;MQRankSum=-0.957;QD=13.89;ReadPosRankSum=1.600;VQSLOD=4.4608;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,49:95:99:1349,0,1136 14 23858232 23858232 C T exonic MYH6 synonymous SNV MYH6:NM_002471:exon29:c.G4011A:p.S1337S 0.035 0.0083 0.043 . 0.11 0.027 0.0766 0.0234 0.0382 0.0001 0.0816 0.1103 0.0865 0.0382 0.086 0.025 0.12 0.022 0.082 rs451794 . . Benign|Benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy\x2c_Dominant|Atrial_septal_defect|Hypertrophic_cardiomyopathy RCV000037494.3|RCV000244300.1|RCV000292955.1|RCV000347687.1|RCV000387161.1 MedGen|MedGen|MedGen|MedGen:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet CN169374|CN230736|CN239310|C0018817:ORPHA1478|HP:0001639:C0007194:ORPHA217569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0772 0.0221 0.0400 0.1447 0.0003 0.0815 0.1116 0.0830 0.0394 0.0783 0.0235 0.0492 0.1887 0 0.0840 0.1166 0.0854 het 1310.51 86 14 23858232 . C T 1310.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.520;DP=86;Dels=0.00;FS=0.919;HRun=0;HaplotypeScore=2.8622;MQ=57.00;MQ0=2;MQRankSum=0.526;QD=15.24;ReadPosRankSum=0.163;VQSLOD=3.5441;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,51:86:99:1341,0,907 14 23866440 23866440 G A exonic MYH6 synonymous SNV MYH6:NM_002471:exon17:c.C1989T:p.N663N 0.001 . 0.0014 . 0.004 . 0.0052 0.0009 0.0011 0 0.0017 0.0086 0.0022 0.0014 0.0057 0.0014 0.0079 0.011 . rs28730774 . . other|Benign|Likely benign not_specified|Familial_hypertrophic_cardiomyopathy_14|Cardiovascular_phenotype RCV000037451.4|RCV000231283.2|RCV000248032.1 MedGen|MedGen:OMIM|MedGen CN169374|C2750467:613251|CN230736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0047 0.0008 0.0016 0.0027 0 0.0026 0.0085 0.0042 0.0011 0.0042 0.0015 0.0036 0 0 0.0023 0.0071 0.0010 het 2191.47 189 14 23866440 . G A 2191.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.996;DP=189;DS;Dels=0.00;FS=2.841;HRun=0;HaplotypeScore=5.9695;MQ=58.31;MQ0=0;MQRankSum=-1.163;QD=11.60;ReadPosRankSum=-1.957;VQSLOD=3.0970;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:105,84:189:99:2221,0,2975 14 23874523 23874523 C T exonic MYH6 synonymous SNV MYH6:NM_002471:exon5:c.G411A:p.E137E 0.15 0.14 0.15 0.068 0.25 0.17 0.2103 0.1607 0.1136 0.0563 0.2141 0.2607 0.2015 0.1855 0.23 0.17 0.26 0.2 0.19 rs2277474 COSM5618738 1(breast) Benign|Benign|Likely benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Atrial_septal_defect|Dilated_Cardiomyopathy\x2c_Dominant|Hypertrophic_cardiomyopathy RCV000037497.7|RCV000248886.1|RCV000291672.1|RCV000346540.1|RCV000407358.1 MedGen|MedGen|MedGen:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet CN169374|CN230736|C0018817:ORPHA1478|CN239310|HP:0001639:C0007194:ORPHA217569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2079 0.1631 0.1243 0.2999 0.0554 0.2118 0.2581 0.2333 0.1876 0.2169 0.1728 0.1492 0.3667 0.0526 0.2167 0.2614 0.2137 het 2747.77 200 14 23874523 . C T 2747.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.516;DP=200;DS;Dels=0.00;FS=1.755;HRun=1;HaplotypeScore=10.4931;MQ=58.38;MQ0=0;MQRankSum=1.886;QD=13.74;ReadPosRankSum=-0.293;VQSLOD=3.8077;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,98:200:99:2778,0,2900 14 23892888 23892888 A G exonic MYH7 synonymous SNV MYH7:NM_000257:exon24:c.T2967C:p.I989I 0.38 0.75 0.23 0.17 0.31 0.26 0.3212 0.7184 0.1874 0.1584 0.2499 0.3270 0.2996 0.2562 0.45 0.7 0.33 0.5 0.25 rs7157716 COSM147748 1(breast);1(stomach);2(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Myosin_storage_myopathy|Laing_distal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant|Scapuloperoneal_myopathy RCV000035835.5|RCV000246682.1|RCV000266522.1|RCV000296884.1|RCV000324042.1|RCV000354060.1|RCV000355361.1|RCV000392400.1 Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen HP:0011664:C4021133|HP:0001639:C0007194:ORPHA217569|CN239310|HP:0009054:C2931268 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3070 0.7180 0.2013 0.3954 0.1554 0.2467 0.3225 0.3241 0.2587 0.4165 0.7157 0.2428 0.44 0.1389 0.2602 0.3257 0.3098 het 3908.09 247 14 23892888 . A G 3908.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.098;DP=247;DS;Dels=0.00;FS=7.009;HRun=0;HaplotypeScore=4.4069;MQ=59.40;MQ0=0;MQRankSum=0.859;QD=15.82;ReadPosRankSum=1.529;VQSLOD=3.6751;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,125:247:99:3272,0,3240 14 23899027 23899027 C T exonic MYH7 synonymous SNV MYH7:NM_000257:exon12:c.G1095A:p.K365K 0.08 0.14 0.071 0.001 0.14 0.029 0.1159 0.1416 0.0547 0.0003 0.1049 0.1567 0.1145 0.0423 0.15 0.14 0.15 0.15 0.11 rs735711 COSM3753909 1(large_intestine) Benign|Benign|Benign|Benign|Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Laing_distal_myopathy|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Scapuloperoneal_myopathy|Myosin_storage_myopathy|Dilated_Cardiomyopathy\x2c_Dominant RCV000035697.5|RCV000246769.1|RCV000278655.1|RCV000282302.1|RCV000317372.1|RCV000340529.1|RCV000374437.1|RCV000395746.1 Human_Phenotype_Ontology:MedGen:Orphanet|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM:SNOMED_CT|MedGen HP:0001639:C0007194:ORPHA217569|HP:0011664:C4021133|HP:0009054:C2931268|C1842160:608358:699267007|CN239310 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1116 0.1414 0.0581 0.1735 0.0003 0.1036 0.1551 0.1187 0.0441 0.1396 0.1423 0.0692 0.2119 0 0.1080 0.1635 0.1319 het 1828.65 134 14 23899027 . C T 1828.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.251;DP=134;Dels=0.00;FS=6.445;HRun=2;HaplotypeScore=0.7887;MQ=58.44;MQ0=0;MQRankSum=0.963;QD=13.65;ReadPosRankSum=-1.444;VQSLOD=4.4888;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,71:134:99:1859,0,1712 14 23944505 23944505 G A exonic NGDN synonymous SNV NGDN:NM_001042635:exon4:c.G270A:p.V90V,NGDN:NM_015514:exon4:c.G270A:p.V90V 0.6 0.33 0.65 0.64 0.79 0.7 0.7086 0.3950 0.6418 0.6496 0.7837 0.7677 0.7588 0.7127 0.64 0.41 0.76 0.54 0.69 rs2236260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7126 0.3881 0.6503 0.6834 0.6468 0.7930 0.7722 0.7251 0.7117 0.6566 0.3967 0.6514 0.7020 0.6123 0.7815 0.7761 0.7598 hom 3115.76 89 14 23944505 . G A 3115.76 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=35.01;VQSLOD=9.7482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:3149,247,0 14 23944514 23944514 C A exonic NGDN synonymous SNV NGDN:NM_001042635:exon4:c.C279A:p.R93R,NGDN:NM_015514:exon4:c.C279A:p.R93R 0.68 0.54 0.69 0.64 0.85 0.73 0.7646 0.5768 0.6715 0.6504 0.8215 0.8231 0.8102 0.7461 0.74 0.57 0.83 0.67 0.73 rs2236261 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7637 0.5754 0.6822 0.7090 0.6468 0.8292 0.8281 0.7807 0.7443 0.7428 0.5781 0.6863 0.7185 0.6137 0.8195 0.8327 0.8258 hom 2421.89 72 14 23944514 . C A 2421.89 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.36;MQ0=0;QD=33.64;VQSLOD=8.9508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2455,196,0 14 24030824 24030824 - T exonic AP1G2 frameshift insertion AP1G2:NM_001282474:exon16:c.610dupA:p.M204Nfs*11,AP1G2:NM_001282475:exon16:c.1537dupA:p.M513Nfs*11,AP1G2:NM_003917:exon18:c.1753dupA:p.M585Nfs*11 . . . . . . 0.0008 0.0008 0.0020 0 0 0.0010 0.0034 0 0.0013 0.0007 0.0016 . . rs774307981 COSM5093331;COSM1369246 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0008 0.0007 0.0014 0 0 0 0.0010 0.0026 0 0.0005 0.0001 0 0 0 0 0.0008 0.0010 het 1101.69 93 14 24030824 . A AT 1101.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.137;DP=93;FS=5.748;HRun=6;HaplotypeScore=231.5748;MQ=59.24;MQ0=0;MQRankSum=0.332;QD=11.85;ReadPosRankSum=1.068;set=variant2 GT:AD:DP:GQ:PL 0/1:56,37:93:99:1141,0,1195 14 24529890 24529890 A G exonic CARMIL3 synonymous SNV CARMIL3:NM_138360:exon25:c.A2115G:p.L705L 0.96 0.99 0.98 1. 0.9 0.95 0.9141 0.9795 0.9755 0.9987 0.8828 0.8823 0.9204 0.9262 0.91 0.97 0.88 0.96 0.93 rs1951635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9154 0.9802 0.9723 0.8972 0.9981 0.8831 0.8820 0.9243 0.9233 0.9130 0.9777 0.9594 0.8940 0.9988 0.8864 0.8710 0.8980 hom 3134 97 14 24529890 . A G 3134 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7762;MQ=59.31;MQ0=0;QD=32.31;VQSLOD=8.4956;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3167,247,0 14 24533539 24533539 C A exonic CARMIL3 nonsynonymous SNV CARMIL3:NM_138360:exon32:c.C3064A:p.L1022M 0.35 0.5 0.46 0.044 0.46 0.27 0.4383 0.5078 0.4949 0.0545 0.4753 0.4895 0.4003 0.3182 0.46 0.49 0.45 0.37 0.42 rs10146906 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.523 N 1.000 0.090 P -0.55 0.024 N 0.94 0.437 T -0.26 0.112 N 0.083 0.115 -0.925 0.449 T 0.000 0.000 T . . . 3.130 0.436 22.6 0.937 0.230 0.053 0.110 N c -0.594 -0.350 0.999 0.389 0.706 0.609 0 5.28 0.740 3.209 0.506 0.242 0.267 1.000 0.715 1.000 0.888 9.854 0.401 CARMIL\x2c C-terminal domain . . 0.4052 0.4832 0.4632 0.3724 0.0459 0.4410 0.4594 0.4145 0.2959 0.4535 0.4876 0.4487 0.4106 0.0439 0.4474 0.4811 0.4455 het 257.57 23 14 24533539 . C A 257.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.616;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.769;QD=11.20;ReadPosRankSum=-2.062;VQSLOD=10.6520;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,11:23:99:288,0,340 14 24545366 24545366 T C exonic CPNE6 synonymous SNV CPNE6:NM_006032:exon11:c.T933C:p.I311I,CPNE6:NM_001280558:exon12:c.T1098C:p.I366I 0.5 0.6 0.43 0.49 0.36 0.56 0.4186 0.5744 0.5631 0.4743 0.3879 0.3393 0.4192 0.5230 0.42 0.56 0.35 0.47 0.24 rs2070342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4194 0.5752 0.5454 0.3058 0.4737 0.3834 0.3440 0.3892 0.5148 0.4231 0.5646 0.4654 0.3046 0.4744 0.3968 0.3441 0.3791 het 1208.85 85 14 24545366 . T C 1208.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.599;DP=85;Dels=0.00;FS=4.198;HRun=0;HaplotypeScore=5.0706;MQ=58.51;MQ0=0;MQRankSum=0.544;QD=14.22;ReadPosRankSum=-2.656;VQSLOD=3.6430;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,47:85:99:1239,0,1101 14 24545375 24545375 C T exonic CPNE6 synonymous SNV CPNE6:NM_006032:exon11:c.C942T:p.T314T,CPNE6:NM_001280558:exon12:c.C1107T:p.T369T 0.39 0.079 0.46 0.53 0.62 0.39 0.5290 0.1432 0.3908 0.5391 0.6148 0.6250 0.5486 0.4406 0.47 0.17 0.62 0.36 0.67 rs2070341 COSM3952934 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5337 0.1381 0.4087 0.6184 0.5424 0.6216 0.6229 0.5637 0.4436 0.4779 0.1449 0.4797 0.6159 0.5317 0.6037 0.6279 0.5782 het 1074.67 81 14 24545375 . C T 1074.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.779;DP=81;Dels=0.00;FS=1.830;HRun=0;HaplotypeScore=0.9979;MQ=58.44;MQ0=0;MQRankSum=0.154;QD=13.27;ReadPosRankSum=1.631;VQSLOD=5.3232;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,37:81:99:1105,0,1187 14 24567498 24567498 A C exonic PCK2 nonsynonymous SNV PCK2:NM_001018073:exon3:c.A362C:p.Q121P,PCK2:NM_004563:exon3:c.A362C:p.Q121P 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.95 rs3021119 COSM4590325;COSM4590326 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1694.21 55 14 24567498 . A C 1694.21 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4620;MQ=60.00;MQ0=0;QD=30.80;VQSLOD=7.5106;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1727,135,0 14 24587639 24587639 G A exonic DCAF11 nonsynonymous SNV DCAF11:NM_001163484:exon7:c.G620A:p.R207H,DCAF11:NM_025230:exon7:c.G620A:p.R207H,DCAF11:NM_181357:exon7:c.G542A:p.R181H 0.4 0.34 0.46 0.44 0.3 0.49 0.3473 0.3227 0.5250 0.4427 0.3127 0.2804 0.3789 0.4708 0.29 0.32 0.27 0.38 0.23 rs3825584 COSM4148029 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.301 0.144 T 0.001 0.067 B 0.001 0.080 B 0.070 0.216 N 0.998 0.229 P 1.19 0.302 L 1.01 0.411 T -0.7 0.199 N 0.07 0.363 -0.902 0.478 T 0.000 0.000 T . . . 1.695 0.265 14.38 0.923 0.211 0.174 0.196 N c -1.103 -0.998 0.999 0.399 0.707 0.730 0 -5.29 0.025 0.069 0.143 -0.604 0.044 0.831 0.299 0.947 0.422 13.226 0.592 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000157379.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9|ENSG00000100908.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid 0.3501 0.3272 0.5039 0.2549 0.4400 0.3133 0.2772 0.3316 0.4686 0.3150 0.3261 0.4378 0.2616 0.4326 0.3128 0.2888 0.3425 het 1760.61 172 14 24587639 . G A 1760.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.630;DP=172;Dels=0.00;FS=0.579;HRun=0;HaplotypeScore=3.4300;MQ=59.52;MQ0=0;MQRankSum=-0.524;QD=10.18;ReadPosRankSum=0.061;VQSLOD=6.2017;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:99,72:172:99:1791,0,2488 14 24587667 24587667 C T exonic DCAF11 synonymous SNV DCAF11:NM_001163484:exon7:c.C648T:p.D216D,DCAF11:NM_025230:exon7:c.C648T:p.D216D,DCAF11:NM_181357:exon7:c.C570T:p.D190D 0.33 0.31 0.41 0.39 0.22 0.37 0.2609 0.2872 0.4907 0.3857 0.2067 0.1869 0.2709 0.3384 0.21 0.28 0.18 0.35 0.13 rs17101367 COSM4148030 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2657 0.2887 0.4709 0.1430 0.3824 0.2072 0.1862 0.2551 0.3373 0.2320 0.2858 0.3998 0.1457 0.3657 0.2002 0.1862 0.2312 het 1521.33 140 14 24587667 . C T 1521.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.841;DP=140;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=4.6364;MQ=59.70;MQ0=0;MQRankSum=-0.971;QD=10.87;ReadPosRankSum=-1.110;VQSLOD=5.0649;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,58:140:99:1551,0,2086 14 24614361 24614361 T G exonic PSME2 nonsynonymous SNV PSME2:NM_002818:exon6:c.A266C:p.H89P 1. 1. 0.99 1. 0.99 1. 0.9929 0.9988 0.9952 1 0.9980 0.9890 0.9945 0.9972 0.99 1. 0.99 1. 1. rs7146672 . . . . . . . . . . . . . 0.678 0.096 T 0.0 0.026 B 0.0 0.013 B . . . 0.999 0.215 P -3.005 0.000 N 2.07 0.379 T 3.16 0.001 N 0.095 0.103 -0.989 0.328 T 0.000 0.000 T . . . 0.918 0.182 10.18 0.834 0.142 0.031 0.080 N c -0.846 -0.495 1.000 0.747 0.722 0.854 0 4.39 0.520 4.345 0.589 0.133 0.217 1.000 0.715 0.997 0.653 6.047 0.189 . . . 0.9927 0.9984 0.9943 0.9883 1 0.9979 0.9887 0.9911 0.9968 0.9939 0.9964 0.9916 0.9901 1 0.9989 0.9911 0.9888 hom 6705.63 195 14 24614361 . T G 6705.63 Mask AC=2;AF=1.00;AN=2;DP=195;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7747;MQ=58.34;MQ0=1;QD=34.39;VQSLOD=9.1720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6705,521,0 14 24646406 24646406 - GAA exonic REC8 nonframeshift insertion REC8:NM_001048205:exon8:c.681_682insGAA:p.E229_A230insE,REC8:NM_005132:exon9:c.681_682insGAA:p.E229_A230insE . . . . . . 0.9863 0.9958 0.9940 0.9971 0.9962 0.9803 0.9822 0.9904 0.98 0.99 0.98 . . rs34582034 COSM4602948 22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9871 0.9954 0.9935 0.9767 0.9968 0.9968 0.9807 0.9867 0.9901 0.9901 0.9943 0.9893 0.9801 1 0.9980 0.9852 0.9867 hom 4553.41 82 14 24646406 . G GGAA 4553.41 Mask AC=2;AF=1.00;AN=2;DP=82;FS=0.000;HRun=0;HaplotypeScore=242.7673;MQ=56.54;MQ0=1;QD=54.21;set=variant2 GT:AD:DP:GQ:PL 1/1:13,71:82:99:4553,214,0 14 24656695 24656696 TC - exonic IPO4 frameshift deletion IPO4:NM_024658:exon6:c.498_499del:p.E166Dfs*3 . . . . . . 1.656e-05 0 0 0 0 2.997e-05 0 0 0.0003 . 0.0004 . . rs770286929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.624e-05 0 0 0 0 0 3.581e-05 0 0 . . . . . . . . het 1573.23 109 14 24656694 . GTC G 1573.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.692;DP=109;FS=0.741;HRun=0;HaplotypeScore=341.1591;MQ=59.87;MQ0=0;MQRankSum=-0.664;QD=14.43;ReadPosRankSum=0.068;set=variant2 GT:AD:DP:GQ:PL 0/1:64,45:109:99:1612,0,2989 14 24679877 24679877 C T exonic CHMP4A nonsynonymous SNV CHMP4A:NM_014169:exon4:c.G586A:p.G196R 0.35 0.25 0.62 0.24 0.5 0.26 0.4591 0.2708 0.6527 0.2355 0.5051 0.5203 0.4281 0.2955 0.44 0.28 0.52 0.39 0.51 rs2295322 COSM3999234 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.007 0.599 D 0.872 0.548 P 0.675 0.670 P 0.011 0.297 N 0.435 0.322 P 3.725 0.949 H -0.68 0.726 T -0.04 0.867 N 0.368 0.429 -0.911 0.467 T 0.000 0.000 T . . . 6.753 0.921 32 0.999 0.982 0.988 0.873 D c 0.733 0.648 1.000 0.747 0.707 0.730 0 4.3 0.504 4.984 0.633 0.935 0.490 1.000 0.715 1.000 0.888 10.695 0.449 . . . 0.4729 0.2669 0.6584 0.5258 0.2315 0.5012 0.5185 0.5144 0.2978 0.4259 0.2769 0.6400 0.5099 0.2150 0.5106 0.4989 0.4724 hom 3844.84 122 14 24679877 . C T 3844.84 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=58.78;MQ0=0;QD=31.52;VQSLOD=9.5757;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3844,289,0 14 24769849 24769849 - GAGGAG exonic NOP9 nonframeshift insertion NOP9:NM_001286367:exon2:c.483_484insGAGGAG:p.E169_D170insEE,NOP9:NM_174913:exon2:c.483_484insGAGGAG:p.E169_D170insEE . . . . . . . . . . . . . . . . . . . rs71119069 COSM1477508 5(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3469 0.2800 0.2834 0.3322 0.1303 0.3949 0.4022 0.3634 hom 9584.31 213 14 24769849 . A AGAGGAG 9584.31 Mask AC=2;AF=1.00;AN=2;DP=213;DS;FS=0.000;HRun=0;HaplotypeScore=1077.9907;MQ=48.58;MQ0=0;QD=44.79;set=variant2 GT:AD:DP:GQ:PL 1/1:117,79:213:99:9584,366,0 14 24771256 24771256 T C exonic NOP9 synonymous SNV NOP9:NM_001286367:exon4:c.T894C:p.H298H,NOP9:NM_174913:exon4:c.T894C:p.H298H 0.91 0.86 0.93 0.86 0.97 0.95 0.9454 0.8895 0.9258 0.8565 0.9766 0.9639 0.9361 0.9540 0.94 0.9 0.96 0.86 0.95 rs4247001 COSM4148039 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9449 0.8913 0.9223 0.9578 0.8521 0.9748 0.9639 0.9542 0.9518 0.9355 0.8891 0.9284 0.9636 0.8440 0.9748 0.9609 0.9664 hom 5691.61 164 14 24771256 . T C 5691.61 Mask AC=2;AF=1.00;AN=2;DP=164;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.3840;MQ=59.86;MQ0=0;QD=34.70;VQSLOD=3.0076;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,163:164:99:5664,445,0 14 24839083 24839083 G C exonic NFATC4 nonsynonymous SNV NFATC4:NM_001198965:exon2:c.G479C:p.G160A,NFATC4:NM_001198966:exon2:c.G269C:p.G90A,NFATC4:NM_001288802:exon2:c.G443C:p.G148A,NFATC4:NM_004554:exon2:c.G479C:p.G160A,NFATC4:NM_001136022:exon3:c.G668C:p.G223A,NFATC4:NM_001198967:exon3:c.G668C:p.G223A,NFATC4:NM_001320043:exon3:c.G668C:p.G223A 0.28 0.084 0.38 0.14 0.57 0.32 0.4953 0.1835 0.4026 0.1608 0.5999 0.6072 0.5187 0.3770 0.45 0.17 0.59 0.3 0.37 rs2229309 COSM4148053;COSM4148052;COSM4148054 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.548 B 0.001 0.486 B 0.684 0.102 N 0.963 0.260 P 0 0.065 N 2.49 0.145 T 0.19 0.100 N 0.101 0.289 -1.054 0.133 T 0.000 0.000 T . . . 0.709 0.162 8.886 0.917 0.203 0.832 0.420 D c -0.619 -0.487 1.000 0.500 0.732 0.924 0 1.81 0.240 0.484 0.219 0.993 0.603 0.985 0.357 0.981 0.494 11.077 0.471 . ENSG00000129467.9|ENSG00000157379.9|ENSG00000092295.7|ENSG00000129467.9|ENSG00000129465.11|ENSG00000129467.9 Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4691 0.1459 0.3846 0.6023 0.1436 0.5683 0.5893 0.5098 0.3653 0.4319 0.1571 0.4200 0.55 0.1309 0.5888 0.5815 0.5082 hom 890.60 28 14 24839083 . G C 890.60 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.81;VQSLOD=13.0854;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:75.22:924,75,0 14 24843620 24843620 T C exonic NFATC4 synonymous SNV NFATC4:NM_001198965:exon6:c.T1821C:p.T607T,NFATC4:NM_001198966:exon6:c.T1611C:p.T537T,NFATC4:NM_001288802:exon6:c.T1785C:p.T595T,NFATC4:NM_004554:exon6:c.T1821C:p.T607T,NFATC4:NM_001136022:exon7:c.T2010C:p.T670T,NFATC4:NM_001198967:exon7:c.T2010C:p.T670T,NFATC4:NM_001320043:exon7:c.T2010C:p.T670T 0.28 0.074 0.39 0.15 0.59 0.32 0.4788 0.1418 0.3826 0.1441 0.5772 0.6097 0.5022 0.3636 0.45 0.16 0.6 0.34 0.47 rs2295298 COSM4148058;COSM4148060;COSM4148059 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4834 0.1379 0.3974 0.6234 0.1489 0.5739 0.6075 0.5256 0.3686 0.4396 0.1515 0.4308 0.5762 0.1360 0.5932 0.5967 0.5194 hom 3080.21 101 14 24843620 . T C 3080.21 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6807;MQ=58.10;MQ0=0;QD=30.50;VQSLOD=8.4418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3113,250,0 14 24845841 24845841 T C exonic NFATC4 nonsynonymous SNV NFATC4:NM_001198966:exon9:c.T2188C:p.S730P,NFATC4:NM_001288802:exon9:c.T2362C:p.S788P,NFATC4:NM_004554:exon9:c.T2398C:p.S800P,NFATC4:NM_001136022:exon10:c.T2587C:p.S863P,NFATC4:NM_001320043:exon10:c.T2587C:p.S863P 0.36 0.22 0.45 0.15 0.66 0.38 0.5384 0.2794 0.4170 0.1447 0.6128 0.6733 0.5540 0.4133 0.54 0.29 0.67 0.4 0.65 rs7149586 . . . . . . . . . . . . . 1.0 0.125 T 0.0 0.026 B 0.0 0.013 B 0.031 0.252 N 1.000 0.810 P 0 0.065 N 3.11 0.494 T 0.57 0.050 N 0.044 0.178 -0.933 0.437 T 0.000 0.000 T . . . 1.627 0.257 14.00 0.982 0.391 0.071 0.129 N c -0.965 -0.814 1.000 0.747 0.563 0.310 0 2.27 0.274 -1.071 0.035 -0.507 0.051 0.000 0.063 0.978 0.483 5.340 0.152 . ENSG00000157379.9 Esophagus_Mucosa 0.5416 0.2773 0.4374 0.7423 0.1494 0.6143 0.6693 0.5889 0.4190 0.5110 0.2733 0.4808 0.7483 0.1359 0.6255 0.6554 0.5830 hom 5419.57 157 14 24845841 . T C 5419.57 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=59.20;MQ0=0;QD=34.52;VQSLOD=8.8299;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5419,427,0 14 24883887 24883887 G A exonic NYNRIN nonsynonymous SNV NYNRIN:NM_025081:exon9:c.G2932A:p.A978T 0.24 0.12 0.26 0.05 0.48 0.36 0.3758 0.1626 0.1986 0.0445 0.3924 0.4774 0.3995 0.3801 0.36 0.16 0.46 0.27 . rs8017377 COSM4148061 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . LDL cholesterol . .03 24097068 rs8017377 3E-15 0.338 0.128 T 0.002 0.090 B 0.001 0.040 B . . . 1 0.090 P 0.625 0.159 N 2.8 0.111 T -0.52 0.162 N 0.029 0.010 -0.910 0.469 T 0.000 0.000 T . . . -0.961 0.033 0.019 0.661 0.077 0.030 0.079 N c -1.834 -1.937 1.000 0.747 0.707 0.730 0 -9.08 0.006 -0.329 0.079 -0.889 0.027 0.000 0.063 0.001 0.043 0.388 0.004 . ENSG00000205978.5|ENSG00000205978.5 Liver|Skin_Sun_Exposed_Lower_leg 0.3671 0.1578 0.2073 0.4749 0.0485 0.3808 0.4777 0.3892 0.3765 0.3407 0.1655 0.2632 0.4570 0.0556 0.3936 0.4615 0.3722 het 590.78 46 14 24883887 . G A 590.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.845;DP=46;Dels=0.00;FS=11.205;HRun=0;HaplotypeScore=0.6651;MQ=59.05;MQ0=0;MQRankSum=0.483;QD=12.84;ReadPosRankSum=0.154;VQSLOD=4.8735;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,23:46:99:621,0,604 14 24901249 24901249 A C exonic KHNYN nonsynonymous SNV KHNYN:NM_001290256:exon3:c.A905C:p.K302T,KHNYN:NM_001290257:exon3:c.A782C:p.K261T,KHNYN:NM_015299:exon3:c.A782C:p.K261T 0.41 0.055 0.58 0.52 0.56 0.47 0.5036 0.1117 0.6563 0.5122 0.5518 0.5359 0.5403 0.4867 0.4 0.13 0.54 0.41 0.43 rs3742520 . . . . . . . . . . . . . 0.002 0.721 D 0.028 0.184 B 0.007 0.121 B 0.324 0.142 U 1 0.090 P 1.545 0.392 L 1.8 0.253 T -0.23 0.107 N 0.293 0.353 -0.961 0.390 T 0.000 0.000 T . . . -0.317 0.067 0.609 0.976 0.343 0.466 0.276 N c -0.663 -0.632 1.000 0.747 0.742 0.980 0 2.28 0.275 0.131 0.156 1.088 0.866 0.000 0.063 0.724 0.315 3.854 0.084 . ENSG00000139899.6|ENSG00000100441.5|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000100441.5|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000100441.5|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6|ENSG00000139899.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.5139 0.1068 0.6363 0.5188 0.5168 0.5473 0.5340 0.5252 0.4855 0.4197 0.1217 0.6271 0.4967 0.5124 0.5573 0.5340 0.4795 het 824.83 82 14 24901249 . A C 824.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.725;DP=82;Dels=0.00;FS=1.938;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;MQRankSum=-1.061;QD=10.06;ReadPosRankSum=-0.851;VQSLOD=6.0633;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,31:82:99:855,0,1419 14 24901276 24901276 G T exonic KHNYN nonsynonymous SNV KHNYN:NM_001290256:exon3:c.G932T:p.W311L,KHNYN:NM_001290257:exon3:c.G809T:p.W270L,KHNYN:NM_015299:exon3:c.G809T:p.W270L 0.96 0.94 0.98 0.97 0.97 0.95 0.9657 0.9417 0.9895 0.9689 0.9507 0.9683 0.9584 0.9563 0.96 0.94 0.97 0.95 0.86 rs7151995 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P -1.7 0.004 N 2.1 0.200 T 0.49 0.030 N 0.114 0.124 -0.986 0.335 T 0.000 0.000 T . . . -0.513 0.055 0.204 0.696 0.088 0.009 0.035 N c -1.478 -1.387 1.000 0.747 0.742 0.980 0 -0.232 0.124 -0.298 0.082 -0.300 0.081 0.000 0.063 0.821 0.343 6.650 0.220 . ENSG00000100441.5 Whole_Blood 0.9664 0.9418 0.9880 0.9792 0.9696 0.9480 0.9682 0.9675 0.9572 0.9615 0.9450 0.9916 0.9735 0.9740 0.9542 0.9693 0.9652 hom 2418.57 71 14 24901276 . G T 2418.57 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=34.06;VQSLOD=9.4116;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2452,193,0 14 24909362 24909362 T C exonic SDR39U1 nonsynonymous SNV SDR39U1:NM_001290292:exon5:c.A563G:p.Q188R,SDR39U1:NM_001290293:exon5:c.A485G:p.Q162R,SDR39U1:NM_001308075:exon5:c.A563G:p.Q188R,SDR39U1:NM_020195:exon6:c.A809G:p.Q270R 0.77 0.47 0.85 0.84 0.9 0.89 0.8634 0.5221 0.8907 0.8232 0.9338 0.9028 0.8904 0.8765 0.8 0.55 0.91 0.72 . rs1043831 COSM4148068;COSM4148067;COSM4148066 1(thyroid) . . . . . . . . . . . 0.497 0.174 T 0.0 0.026 B 0.003 0.080 B 0.000 0.452 N 0.000 0.588 P -0.94 0.013 N 0.89 0.456 T 0.4 0.035 N 0.088 0.271 -0.996 0.310 T 0.000 0.000 T . . . 1.454 0.237 13.07 0.947 0.247 0.448 0.272 N c -0.567 -0.342 1.000 0.747 0.672 0.522 0 5.27 0.737 3.572 0.533 0.069 0.176 0.994 0.380 0.756 0.323 8.619 0.328 Domain of unknown function DUF1731;NAD(P)-binding domain ENSG00000100445.12|ENSG00000100445.12|ENSG00000258744.1|ENSG00000100445.12|ENSG00000100445.12|ENSG00000100445.12|ENSG00000100445.12 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.8703 0.5132 0.8834 0.9275 0.8302 0.9335 0.9019 0.8890 0.8754 0.7989 0.5225 0.8771 0.9172 0.8251 0.9325 0.9126 0.8931 hom 1030.78 35 14 24909362 . T C 1030.78 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=59.34;MQ0=0;QD=29.45;VQSLOD=8.7312;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:93.21:1064,93,0 14 24909475 24909475 C G exonic SDR39U1 nonsynonymous SNV SDR39U1:NM_001290292:exon5:c.G450C:p.L150F,SDR39U1:NM_001290293:exon5:c.G372C:p.L124F,SDR39U1:NM_001308075:exon5:c.G450C:p.L150F,SDR39U1:NM_020195:exon6:c.G696C:p.L232F 0.77 0.47 0.85 0.84 0.9 0.89 0.8623 0.5189 0.8906 0.8208 0.9338 0.9023 0.8898 0.8761 0.8 0.56 0.91 0.72 . rs3211056 COSM4148070;COSM4148069;COSM4148071 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.123 T 0.007 0.344 B 0.028 0.347 B 0.000 0.629 D 0.000 0.810 P 1.86 0.494 L 1.61 0.573 T 1.86 0.102 N 0.427 0.509 -1.042 0.166 T 0.000 0.000 T . . . 0.833 0.173 9.664 0.859 0.156 0.835 0.423 D c 0.032 0.066 1.000 0.747 0.672 0.522 0 3.83 0.431 0.721 0.254 0.852 0.362 0.999 0.424 0.957 0.436 7.111 0.244 NAD(P)-binding domain ENSG00000100445.12|ENSG00000100445.12|ENSG00000258744.1|ENSG00000100445.12|ENSG00000100445.12|ENSG00000100445.12|ENSG00000100445.12 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.8697 0.5139 0.8834 0.9273 0.8269 0.9332 0.9015 0.8887 0.8752 0.7982 0.5216 0.8771 0.9172 0.8154 0.9318 0.9126 0.8931 hom 1442.70 54 14 24909475 . C G 1442.70 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=26.72;VQSLOD=7.4806;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1476,123,0 14 24910973 24910973 T G exonic SDR39U1 nonsynonymous SNV SDR39U1:NM_020195:exon4:c.A235C:p.I79L 0.77 0.47 0.85 0.84 0.9 0.89 0.8596 0.5211 0.8831 0.8152 0.9327 0.8989 0.8870 0.8756 0.79 0.53 0.9 . . rs11625819 COSM4148073;COSM4148072 1(thyroid) . . . . . . . . . . . 0.996 0.019 T 0.0 0.026 B 0.0 0.013 B 0.002 0.372 N 1.000 0.588 P -1.155 0.009 N -3.32 0.939 D 0.29 0.042 N 0.045 0.025 -0.936 0.433 T 0.000 0.000 T . . . 1.321 0.223 12.38 0.745 0.104 0.184 0.200 N c -0.978 -0.767 1.000 0.458 0.628 0.401 0 3.57 0.399 0.677 0.248 0.136 0.221 0.542 0.270 0.636 0.296 8.809 0.339 NAD(P)-binding domain ENSG00000100445.12|ENSG00000100445.12|ENSG00000258744.1|ENSG00000100445.12|ENSG00000100445.12|ENSG00000100445.12|ENSG00000100445.12 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.8663 0.5088 0.8754 0.9260 0.8211 0.9325 0.8992 0.8868 0.8706 0.7963 0.5172 0.8768 0.9167 0.8113 0.9327 0.9111 0.8916 hom 1038.64 32 14 24910973 . T G 1038.64 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=32.46;VQSLOD=9.6348;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:84.26:1072,84,0 14 24910974 24910974 T A exonic SDR39U1 synonymous SNV SDR39U1:NM_020195:exon4:c.A234T:p.V78V 0.77 0.47 0.85 0.84 0.9 0.89 0.8594 0.5207 0.8830 0.8151 0.9327 0.8989 0.8872 0.8755 0.78 0.52 0.9 . . rs11625820 COSM4148074;COSM4148075 1(lung);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8663 0.5085 0.8754 0.9260 0.8211 0.9325 0.8992 0.8872 0.8707 0.7964 0.5174 0.8768 0.9167 0.8103 0.9324 0.9111 0.8916 hom 1010.91 32 14 24910974 . T A 1010.91 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=31.59;VQSLOD=8.7252;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:84.25:1044,84,0 14 24975435 24975435 G T exonic CMA1 synonymous SNV CMA1:NM_001308083:exon3:c.C66A:p.S22S,CMA1:NM_001836:exon4:c.C399A:p.S133S 0.93 0.74 0.97 1. 1. 1. 0.9801 0.7834 0.9903 1 1 0.9994 0.9945 0.9999 0.93 0.8 1. 0.92 1. rs5249 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9842 0.7805 0.9891 1 1 1 0.9992 0.9896 0.9998 0.9402 0.7909 0.9857 1 1 1 0.9996 0.9867 hom 2653.57 83 14 24975435 . G T 2653.57 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.97;VQSLOD=13.3891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2687,220,0 14 25075920 25075920 G A exonic GZMH synonymous SNV GZMH:NM_001270781:exon4:c.C372T:p.D124D,GZMH:NM_001270780:exon5:c.C438T:p.D146D,GZMH:NM_033423:exon5:c.C630T:p.D210D 0.0044 0.0015 0.0058 . 0.014 0.002 0.0090 0.0023 0.0044 0.0005 0.0050 0.0137 0.0111 0.0034 0.011 0.0039 0.014 . . rs72681016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0093 0.0026 0.0038 0.0108 0.0008 0.0064 0.0151 0.0093 0.0042 0.0087 0.0042 0.0048 0.0033 0.0019 0.0083 0.0125 0.0092 het 1179.54 112 14 25075920 . G A 1179.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.160;DP=112;Dels=0.00;FS=6.188;HRun=0;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;MQRankSum=-0.609;QD=10.53;ReadPosRankSum=1.391;VQSLOD=4.8109;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,48:112:99:1210,0,1638 14 25102160 25102160 C T exonic GZMB nonsynonymous SNV GZMB:NM_001346011:exon2:c.G128A:p.R43Q,GZMB:NM_004131:exon2:c.G164A:p.R55Q 0.68 0.56 0.78 0.71 0.75 0.66 0.7476 0.5821 0.8489 0.7373 0.8032 0.7666 0.7555 0.6864 0.71 0.6 0.76 0.69 0.74 rs8192917 COSM3753926;COSM3753925;COSM3753927 1(thyroid);1(large_intestine) . . . . . Vitiligo 1.28 . 20410501 rs8192917 3E-8 0.415 0.168 T 0.344 0.318 B 0.027 0.198 B 0.588 0.111 N 1 0.090 P 0.915 0.234 L 0.29 0.928 T -1.74 0.524 N 0.071 0.159 -0.938 0.430 T 0.000 0.000 T . . . 0.865 0.176 9.856 0.993 0.567 0.013 0.045 N c -1.199 -1.227 0.000 0.066 0.554 0.246 0 -1.15 0.092 -1.312 0.028 -0.352 0.070 0.000 0.063 0.001 0.043 8.534 0.323 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.7556 0.5784 0.8469 0.7526 0.7285 0.8057 0.7666 0.7597 0.6830 0.7270 0.5898 0.8520 0.7450 0.7119 0.8073 0.7802 0.7587 hom 5258.21 160 14 25102160 . C T 5258.21 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=32.86;VQSLOD=9.7316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5258,412,0 14 30066929 30066929 A G exonic PRKD1 synonymous SNV PRKD1:NM_002742:exon16:c.T2202C:p.I734I,PRKD1:NM_001330069:exon17:c.T2226C:p.I742I,PRKD1:NM_001348390:exon17:c.T1938C:p.I646I 0.51 0.85 0.46 0.21 0.38 0.53 0.4350 0.7789 0.4901 0.2199 0.3921 0.3772 0.4272 0.5425 0.51 0.76 0.38 0.62 0.31 rs2230505 COSM3753928;COSM3753929 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4267 0.7820 0.4741 0.3450 0.2074 0.4008 0.3777 0.4123 0.5445 0.4944 0.7796 0.4590 0.3311 0.2010 0.4068 0.3912 0.4162 hom 3433.54 106 14 30066929 . A G 3433.54 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.21;MQ0=0;QD=32.39;VQSLOD=9.6285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3433,271,0 14 31099738 31099738 A G exonic SCFD1 nonsynonymous SNV SCFD1:NM_016106:exon3:c.A188G:p.K63R 0.58 0.79 0.5 0.71 0.36 0.43 0.4326 0.7190 0.5918 0.6801 0.3497 0.3437 0.3965 0.4049 0.47 0.71 0.34 0.6 0.41 rs229150 COSM432987 1(haematopoietic_and_lymphoid_tissue);1(skin);2(prostate) . . . . . . . . . . . 0.091 0.318 T 0.023 0.176 B 0.155 0.328 B 0.000 0.843 D 0.000 0.810 P 1.78 0.463 L 1.55 0.299 T -1.52 0.433 N 0.199 0.480 -1.012 0.261 T 0.000 0.000 T . . . 3.125 0.435 22.6 0.996 0.758 0.946 0.614 D c 0.198 0.368 1.000 0.747 0.732 0.924 0 5.6 0.849 8.812 0.915 1.199 0.960 1.000 0.715 1.000 0.888 15.786 0.780 . ENSG00000092108.16|ENSG00000092108.16|ENSG00000092108.16|ENSG00000092108.16|ENSG00000092108.16|ENSG00000092108.16|ENSG00000092108.16|ENSG00000092140.10|ENSG00000092108.16|ENSG00000092140.10|ENSG00000092108.16|ENSG00000092108.16 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.4325 0.7240 0.5759 0.4035 0.6827 0.3477 0.3394 0.3981 0.4055 0.4689 0.7230 0.5407 0.4338 0.6617 0.3455 0.3319 0.3776 hom 3900.87 133 14 31099738 . A G 3900.87 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.9916;MQ=58.93;MQ0=0;QD=29.33;VQSLOD=8.4999;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3901,292,0 14 31355096 31355096 C G exonic COCH nonsynonymous SNV COCH:NM_001135058:exon10:c.C1055G:p.T352S,COCH:NM_001347720:exon10:c.C1250G:p.T417S,COCH:NM_004086:exon11:c.C1055G:p.T352S 0.41 0.21 0.63 0.36 0.63 0.34 0.5491 0.2708 0.6536 0.3642 0.6514 0.6350 0.5782 0.3577 0.51 0.28 0.63 0.34 0.65 rs1045644 COSM3736100;COSM3736101 2(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid) Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000221727.2|RCV000290341.1 MedGen|MedGen CN169374|CN239435 . . . . . . 0.934 0.023 T 0.003 0.102 B 0.002 0.063 B 0.001 0.400 N 1 0.090 P -1.04 0.011 N -1.14 0.779 T 0.72 0.023 N 0.011 0.176 -0.932 0.438 T 0.000 0.000 T . . . 1.323 0.223 12.39 0.824 0.137 0.379 0.256 N c -0.926 -0.706 1.000 0.747 0.635 0.413 0 4.18 0.483 1.969 0.399 0.038 0.153 0.072 0.219 0.872 0.365 16.910 0.859 von Willebrand factor\x2c type A . . 0.5589 0.2599 0.6492 0.5972 0.3589 0.6513 0.6357 0.5927 0.3581 0.5126 0.2658 0.6136 0.5861 0.3362 0.6493 0.6312 0.5891 het 1630.85 138 14 31355096 . C G 1630.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.779;DP=138;Dels=0.00;FS=4.248;HRun=0;HaplotypeScore=3.9890;MQ=59.02;MQ0=0;MQRankSum=-0.279;QD=11.82;ReadPosRankSum=0.322;VQSLOD=5.5144;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,62:138:99:1661,0,2136 14 31381351 31381351 T C exonic STRN3 nonsynonymous SNV STRN3:NM_014574:exon9:c.A1160G:p.N387S,STRN3:NM_001083893:exon11:c.A1412G:p.N471S 0.39 0.31 0.46 0.47 0.46 0.28 0.4376 0.3508 0.4717 0.4831 0.5026 0.4647 0.4659 0.3069 0.42 0.34 0.46 0.42 0.41 rs2273171 COSM147761;COSM3753930 1(stomach);1(haematopoietic_and_lymphoid_tissue);5(prostate);3(large_intestine) . . . . . . . . . . . 0.05 0.416 D 0.029 0.330 B 0.037 0.318 B 0.000 0.843 D 0.000 0.588 P 0.68 0.165 N 0.24 0.596 T -4.24 0.766 D 0.015 0.003 -0.930 0.442 T 0.000 0.000 T . . . 3.484 0.477 23.1 0.999 0.966 0.981 0.794 D c 0.126 0.308 1.000 0.747 0.707 0.730 0 5.63 0.861 6.149 0.714 1.061 0.807 1.000 0.715 1.000 0.888 15.787 0.780 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.4424 0.3470 0.4751 0.3935 0.4807 0.5016 0.4680 0.4523 0.3075 0.4338 0.3513 0.4510 0.3543 0.4591 0.4931 0.4644 0.4540 het 3019.28 219 14 31381351 . T C 3019.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.529;DP=219;Dels=0.00;FS=9.846;HRun=0;HaplotypeScore=5.5616;MQ=58.78;MQ0=0;MQRankSum=2.033;QD=13.79;ReadPosRankSum=0.679;VQSLOD=4.0457;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:105,114:219:99:3049,0,2611 14 31425437 31425437 T C exonic STRN3 synonymous SNV STRN3:NM_001083893:exon2:c.A294G:p.A98A,STRN3:NM_014574:exon2:c.A294G:p.A98A 0.17 0.25 0.17 0.003 0.27 0.14 0.2125 0.2464 0.1042 0.0014 0.2642 0.2636 0.2241 0.1498 0.26 0.25 0.26 0.18 0.28 rs12886419 COSM3753932;COSM3753931 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2061 0.2453 0.1108 0.2353 0.0016 0.2636 0.2604 0.2288 0.1537 0.2447 0.2444 0.1519 0.2715 0.0031 0.2666 0.2699 0.2556 het 1541.53 114 14 31425437 . T C 1541.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.921;DP=114;Dels=0.00;FS=3.733;HRun=0;HaplotypeScore=3.3847;MQ=58.66;MQ0=0;MQRankSum=-1.225;QD=13.52;ReadPosRankSum=1.162;VQSLOD=4.9370;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,64:114:99:1572,0,1355 14 31582380 31582380 A G exonic HECTD1 nonsynonymous SNV HECTD1:NM_015382:exon34:c.T6080C:p.L2027P 1. 1. 1. 1. 1. 1. 1.0000 1 1 0.9998 1 1 1 1 . . . 0.98 0.57 rs1315794 COSM4591840 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9999 1 1.0000 0.9998 1.0000 1 1 1 1 1 1 1 1 hom 700.43 23 14 31582380 . A G 700.43 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.36;MQ0=0;QD=30.45;VQSLOD=9.2193;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.16:733,57,0 14 31647241 31647241 G A exonic HECTD1 synonymous SNV HECTD1:NM_015382:exon3:c.C360T:p.A120A 0.56 0.75 0.61 0.44 0.42 0.53 0.4726 0.6833 0.6764 0.4345 0.4204 0.4111 0.4167 0.4970 0.48 0.66 0.39 0.61 0.4 rs2274201 COSM3753935 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4723 0.6868 0.6498 0.3734 0.4305 0.4189 0.4090 0.4594 0.4979 0.5059 0.6843 0.6196 0.4305 0.4370 0.4338 0.4252 0.4476 het 1313.13 124 14 31647241 . G A 1313.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.083;DP=124;Dels=0.00;FS=14.645;HRun=0;HaplotypeScore=1.8279;MQ=59.70;MQ0=0;MQRankSum=0.565;QD=10.59;ReadPosRankSum=-0.289;VQSLOD=4.0885;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,47:124:99:1343,0,1787 14 31790886 31790886 T G exonic HEATR5A nonsynonymous SNV HEATR5A:NM_015473:exon25:c.A3788C:p.N1263T 0.091 0.12 0.085 0.15 0.047 0.043 0.1035 0.1590 0.1026 0.2325 0.0623 0.0908 0.0941 0.0686 0.084 0.12 0.067 0.076 . rs28396248 COSM147762;COSM3753936 1(stomach);1(large_intestine) . . . . . . . . . . . 0.434 0.094 T 0.037 0.195 B 0.087 0.281 B 0.035 0.247 N 0.315 0.333 P 0.625 0.159 N 0.85 0.471 T -1.91 0.444 N 0.102 0.168 -1.049 0.148 T 0.001 0.003 T . . . -0.071 0.087 1.955 0.801 0.126 0.949 0.624 D c -0.643 -0.521 0.177 0.178 0.706 0.609 0 2.8 0.317 0.450 0.213 0.034 0.151 0.999 0.424 0.932 0.405 6.685 0.222 . ENSG00000100478.10|ENSG00000129493.10 Esophagus_Muscularis|Testis 0.0750 0.1232 0.0723 0.1050 0.1724 0.0441 0.0630 0.0651 0.0560 0.0788 0.1132 0.0823 0.0828 0.1477 0.0381 0.0622 0.0552 het 329.80 20 14 31790886 . T G 329.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.433;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;MQRankSum=-2.103;QD=16.49;ReadPosRankSum=-0.866;VQSLOD=4.4191;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,14:20:99:360,0,146 14 31819047 31819047 C T exonic HEATR5A nonsynonymous SNV HEATR5A:NM_015473:exon18:c.G2656A:p.V886M 0.81 0.66 0.75 0.79 0.95 0.9 0.8821 0.6897 0.7189 0.7765 0.9570 0.9373 0.9161 0.9078 0.86 0.7 0.93 0.76 . rs3736918 COSM5003836;COSM5003837;COSM5003835 1(bone);1(pancreas) . . . . . . . . . . . 0.013 0.538 D 1.0 0.899 D 0.999 0.916 D 0.000 0.629 D 0.000 0.588 P 2.75 0.806 M 3.21 0.071 T -2.23 0.500 N 0.537 0.682 -1.076 0.081 T 0.000 0.000 T . . . 6.757 0.921 32 0.999 0.975 0.984 0.818 D c 0.878 0.843 1.000 0.747 0.651 0.465 0 5.48 0.806 7.468 0.798 0.935 0.490 1.000 0.715 0.986 0.517 19.359 0.944 Armadillo-like helical|Armadillo-type fold ENSG00000129493.10 Testis 0.8767 0.6822 0.7257 0.8828 0.7801 0.9572 0.9374 0.8960 0.9072 0.8539 0.6823 0.7416 0.9073 0.7954 0.9614 0.9356 0.9216 het 602.50 50 14 31819047 . C T 602.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.234;DP=50;Dels=0.00;FS=1.137;HRun=2;HaplotypeScore=0.7340;MQ=58.40;MQ0=0;MQRankSum=0.531;QD=12.05;ReadPosRankSum=0.431;VQSLOD=6.0296;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:632,0,593 14 31819913 31819913 A G exonic HEATR5A synonymous SNV HEATR5A:NM_015473:exon17:c.T2422C:p.L808L 0.81 0.66 0.75 0.79 0.95 0.9 0.8826 0.6983 0.7287 0.7729 0.9557 0.9340 0.9094 0.9059 0.86 0.69 0.93 0.83 . rs7158257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8734 0.6796 0.7236 0.8813 0.7753 0.9568 0.9350 0.8920 0.9048 0.8539 0.6828 0.7410 0.9073 0.7944 0.9613 0.9356 0.9216 het 56.47 15 14 31819913 . A G 56.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.285;DP=15;Dels=0.00;FS=2.515;HRun=0;HaplotypeScore=0.9958;MQ=58.75;MQ0=0;MQRankSum=-0.588;QD=3.76;ReadPosRankSum=0.457;VQSLOD=3.4815;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,4:15:86.46:86,0,305 14 33015014 33015014 G A exonic AKAP6 synonymous SNV AKAP6:NM_004274:exon4:c.G1155A:p.T385T 0.73 0.98 0.78 0.62 0.66 0.54 0.6819 0.9329 0.7645 0.6144 0.6877 0.6629 0.6843 0.5755 0.75 0.92 0.66 0.8 0.57 rs7150894 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6784 0.9353 0.7589 0.6198 0.6170 0.6931 0.6607 0.6588 0.5730 0.7451 0.9299 0.7464 0.6258 0.6073 0.6887 0.6702 0.7047 hom 2718.77 83 14 33015014 . G A 2718.77 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=59.16;MQ0=0;QD=32.76;VQSLOD=8.9612;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:83:99:2752,226,0 14 33046388 33046388 A G exonic AKAP6 synonymous SNV AKAP6:NM_004274:exon5:c.A2409G:p.E803E 0.87 0.81 0.86 1. 0.79 0.88 0.8353 0.8075 0.9172 0.9995 0.7870 0.8049 0.8491 0.8509 0.81 0.81 0.81 0.86 0.87 rs1950703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8396 0.8054 0.9133 0.9071 0.9995 0.7800 0.8010 0.8317 0.8502 0.8114 0.8030 0.8947 0.9040 0.9994 0.7810 0.7979 0.7914 het 1361.05 93 14 33046388 . A G 1361.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.231;DP=93;Dels=0.00;FS=1.757;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=2.106;QD=14.63;ReadPosRankSum=-0.144;VQSLOD=5.8509;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,54:93:99:1391,0,1101 14 34269167 34269167 G C exonic NPAS3 nonsynonymous SNV NPAS3:NM_001165893:exon11:c.G1564C:p.A522P,NPAS3:NM_022123:exon11:c.G1558C:p.A520P,NPAS3:NM_001164749:exon12:c.G1654C:p.A552P,NPAS3:NM_173159:exon12:c.G1615C:p.A539P 0.12 0.19 0.21 0.0099 0.15 0.058 0.1421 0.1949 0.2015 0.0105 0.0820 0.1624 0.1393 0.0784 0.17 0.2 0.16 0.14 0.17 rs12434716 COSM3753941;COSM3753940;COSM3753939 3(soft_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.099 0.199 N 1.000 0.090 P -0.345 0.033 N -0.7 0.728 T 1.03 0.014 N 0.03 0.036 -1.074 0.086 T 0.000 0.000 T . . . 1.750 0.271 14.69 0.758 0.108 0.028 0.074 N c -1.116 -0.969 0.959 0.283 0.765 0.991 0 2.01 0.254 1.375 0.337 0.067 0.174 0.962 0.335 0.896 0.378 5.187 0.144 . . . 0.1376 0.1941 0.1960 0.1017 0.0105 0.0756 0.1644 0.1465 0.0744 0.1580 0.1991 0.1734 0.0993 0.0049 0.0701 0.1735 0.1281 het 546.07 39 14 34269167 . G C 546.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.908;DP=39;Dels=0.00;FS=1.239;HRun=1;HaplotypeScore=1.9966;MQ=59.41;MQ0=0;MQRankSum=0.675;QD=14.00;ReadPosRankSum=0.117;VQSLOD=6.5357;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,21:39:99:576,0,451 14 35062312 35062312 C T exonic SNX6 synonymous SNV SNX6:NM_021249:exon7:c.G309A:p.E103E,SNX6:NM_152233:exon8:c.G693A:p.E231E 0.77 0.66 0.85 0.81 0.8 0.8 0.8071 0.7019 0.8796 0.8265 0.8069 0.8073 0.8002 0.8122 0.77 0.7 0.81 0.72 0.7 rs12432539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8097 0.7018 0.8650 0.7534 0.8290 0.8050 0.8134 0.7965 0.8053 0.7837 0.6953 0.8549 0.7152 0.8239 0.8124 0.8211 0.7892 het 1791.27 146 14 35062312 . C T 1791.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.968;DP=146;Dels=0.00;FS=2.087;HRun=1;HaplotypeScore=0.9867;MQ=59.49;MQ0=0;MQRankSum=0.055;QD=12.27;ReadPosRankSum=-0.067;VQSLOD=6.9377;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,79:146:99:1821,0,1539 14 35230980 35230980 C T exonic BAZ1A nonsynonymous SNV BAZ1A:NM_182648:exon23:c.G4130A:p.R1377K,BAZ1A:NM_013448:exon24:c.G4226A:p.R1409K 0.038 0.0023 0.049 . 0.081 0.077 0.0768 0.0178 0.0566 0.0005 0.0461 0.0985 0.0774 0.0930 0.068 0.02 0.092 0.022 0.049 rs45620534 . . . . . . . . . . . . . 0.129 0.275 T 0.018 0.165 B 0.016 0.166 B 0.005 0.335 N 0.827 0.348 D 1.845 0.488 L 0.18 0.604 T -0.11 0.087 N 0.072 0.089 -1.067 0.101 T 0.006 0.019 T . . . 1.999 0.301 16.21 0.978 0.356 0.879 0.474 D c -0.217 0.005 0.905 0.262 0.732 0.924 0 5.06 0.677 3.207 0.506 0.931 0.441 1.000 0.715 0.990 0.544 11.078 0.471 . ENSG00000151327.8|ENSG00000151327.8 Muscle_Skeletal|Thyroid 0.0740 0.0162 0.0526 0.0693 0.0006 0.0438 0.1004 0.0881 0.0924 0.0569 0.0157 0.0573 0.0497 0.0006 0.0502 0.0883 0.0603 het 1773.76 127 14 35230980 . C T 1773.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.707;DP=127;Dels=0.00;FS=6.708;HRun=5;HaplotypeScore=5.7915;MQ=59.01;MQ0=0;MQRankSum=0.524;QD=13.97;ReadPosRankSum=0.857;VQSLOD=4.5367;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,60:127:99:1804,0,1720 14 35231108 35231108 A T exonic BAZ1A nonsynonymous SNV BAZ1A:NM_182648:exon23:c.T4002A:p.N1334K,BAZ1A:NM_013448:exon24:c.T4098A:p.N1366K 0.038 0.0023 0.049 . 0.081 0.077 0.0765 0.0176 0.0568 0.0005 0.0461 0.0982 0.0771 0.0913 0.071 0.021 0.097 0.022 0.049 rs1044140 COSM5002357 1(pancreas) . . . . . . . . . . . 0.097 0.321 T 0.006 0.126 B 0.004 0.093 B 0.022 0.268 N 0.630 0.328 D 1.525 0.387 L 0.72 0.510 T -1.2 0.305 N 0.009 0.001 -1.059 0.119 T 0.003 0.008 T . . . 1.276 0.218 12.14 0.995 0.708 0.364 0.253 N c -0.687 -0.601 0.041 0.145 0.732 0.924 0 0.952 0.186 0.648 0.243 1.193 0.911 0.246 0.246 0.976 0.476 6.176 0.195 . ENSG00000151327.8|ENSG00000151327.8 Muscle_Skeletal|Thyroid 0.0743 0.0162 0.0528 0.0698 0.0006 0.0439 0.1006 0.0890 0.0931 0.0569 0.0157 0.0573 0.0497 0.0006 0.0501 0.0884 0.0612 het 2382.88 195 14 35231108 . A T 2382.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.678;DP=195;Dels=0.00;FS=1.785;HRun=2;HaplotypeScore=9.1637;MQ=59.01;MQ0=0;MQRankSum=-0.999;QD=12.22;ReadPosRankSum=-0.781;VQSLOD=3.3474;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,90:195:99:2413,0,2717 14 35242828 35242828 G A exonic BAZ1A synonymous SNV BAZ1A:NM_182648:exon19:c.C3006T:p.D1002D,BAZ1A:NM_013448:exon20:c.C3102T:p.D1034D 0.52 0.44 0.55 0.49 0.53 0.61 0.5180 0.4613 0.5552 0.4837 0.5836 0.5028 0.5388 0.5796 0.49 0.47 0.51 0.4 0.5 rs2275145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5245 0.4618 0.5619 0.4758 0.4831 0.5855 0.5068 0.5040 0.5777 0.5217 0.4800 0.5744 0.5 0.4715 0.5963 0.5292 0.5609 het 1292.67 99 14 35242828 . G A 1292.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.592;DP=99;Dels=0.00;FS=0.760;HRun=0;HaplotypeScore=2.6660;MQ=58.83;MQ0=0;MQRankSum=1.006;QD=13.06;ReadPosRankSum=-0.046;VQSLOD=6.5409;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,52:99:99:1323,0,1187 14 35331288 35331288 G A exonic BAZ1A synonymous SNV BAZ1A:NM_013448:exon3:c.C354T:p.V118V,BAZ1A:NM_182648:exon3:c.C354T:p.V118V 0.036 0.0023 0.042 . 0.077 0.074 0.0749 0.0174 0.0496 0.0005 0.0458 0.0969 0.0760 0.0905 0.07 0.021 0.095 0.022 0.057 rs17592803 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0727 0.0159 0.0479 0.0699 0.0006 0.0438 0.0991 0.0848 0.0924 0.0563 0.0157 0.0537 0.0497 0.0006 0.0501 0.0874 0.0591 het 2004.03 169 14 35331288 . G A 2004.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.065;DP=169;Dels=0.00;FS=0.593;HRun=1;HaplotypeScore=2.2772;MQ=59.37;MQ0=0;MQRankSum=0.474;QD=11.86;ReadPosRankSum=-0.414;VQSLOD=6.8262;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,74:169:99:2034,0,2354 14 35546373 35546373 T C exonic FAM177A1 synonymous SNV FAM177A1:NM_173607:exon3:c.T357C:p.G119G,FAM177A1:NM_001289022:exon4:c.T288C:p.G96G,FAM177A1:NM_001079519:exon5:c.T288C:p.G96G 0.14 0.23 0.11 0.033 0.13 0.17 0.1450 0.2158 0.0798 0.0378 0.0921 0.1557 0.1333 0.1807 0.17 0.22 0.15 0.13 0.14 rs3211139 COSM4416732;COSM4416733 1(haematopoietic_and_lymphoid_tissue);1(cervix) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1380 0.2219 0.0817 0.1182 0.0387 0.0889 0.1577 0.1447 0.1825 0.1575 0.2171 0.1041 0.1192 0.0470 0.0935 0.1546 0.1398 het 2751.26 231 14 35546373 . T C 2751.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.051;DP=231;Dels=0.00;FS=1.021;HRun=3;HaplotypeScore=5.8287;MQ=59.08;MQ0=0;MQRankSum=-1.642;QD=11.91;ReadPosRankSum=0.743;VQSLOD=4.3512;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,104:231:99:2781,0,3237 14 35735967 35735967 A G exonic KIAA0391 nonsynonymous SNV KIAA0391:NM_001256681:exon4:c.A194G:p.N65S,KIAA0391:NM_001256678:exon5:c.A1262G:p.N421S,KIAA0391:NM_001256680:exon5:c.A194G:p.N65S,KIAA0391:NM_001256679:exon6:c.A1025G:p.N342S,KIAA0391:NM_014672:exon6:c.A1310G:p.N437S 0.097 0.032 0.13 0.059 0.19 0.11 0.1354 0.0588 0.1125 0.0626 0.1030 0.1710 0.1377 0.1066 0.13 0.061 0.17 0.076 0.13 rs11156878 COSM3753949 4(soft_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.262 0.164 T 0.134 0.257 B 0.108 0.297 B 0.000 0.537 D 0.514 0.338 P 2.155 0.604 M 0.9 0.464 T -1.26 0.348 N 0.071 0.095 -1.071 0.091 T 0.000 0.002 T . . . 4.331 0.580 24.0 0.992 0.535 0.878 0.471 D c 0.056 0.225 0.993 0.330 0.706 0.609 0 5.62 0.857 5.627 0.672 1.199 0.960 1.000 0.715 0.987 0.523 14.815 0.695 Protein-only RNase P\x2c C-terminal . . 0.1356 0.0578 0.1231 0.2413 0.0636 0.0969 0.1665 0.1556 0.1066 0.1225 0.0579 0.1420 0.2351 0.0728 0.1030 0.1662 0.1314 het 3013.14 250 14 35735967 . A G 3013.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.840;DP=250;DS;Dels=0.00;FS=3.703;HRun=0;HaplotypeScore=7.2361;MQ=58.63;MQ0=0;MQRankSum=2.806;QD=12.05;ReadPosRankSum=-0.524;VQSLOD=3.8355;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:3043,0,3482 14 35872926 35872926 G A exonic NFKBIA synonymous SNV NFKBIA:NM_020529:exon2:c.C306T:p.A102A 0.1 0.02 0.14 0.019 0.22 0.15 0.1734 0.0585 0.0998 0.0162 0.1819 0.2211 0.1840 0.1793 0.17 0.059 0.23 0.098 0.13 rs1050851 COSM5019114 1(haematopoietic_and_lymphoid_tissue);7(soft_tissue) Benign|Benign Ectodermal_dysplasia\x2c_anhidrotic\x2c_with_T-cell_immunodeficiency\x2c_autosomal_dominant|not_specified RCV000348186.1|RCV000454473.1 MedGen:OMIM|MedGen C2677481:612132|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1666 0.0525 0.0993 0.1863 0.0152 0.1648 0.2222 0.1775 0.1741 0.1440 0.0537 0.1077 0.1921 0.0105 0.1700 0.2057 0.1516 het 642.53 43 14 35872926 . G A 642.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DP=43;Dels=0.00;FS=1.177;HRun=2;HaplotypeScore=0.0000;MQ=58.88;MQ0=0;MQRankSum=1.254;QD=14.94;ReadPosRankSum=-1.084;VQSLOD=5.5878;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,23:43:99:673,0,492 14 36789729 36789729 T G exonic MBIP nonsynonymous SNV MBIP:NM_001144891:exon1:c.A66C:p.R22S,MBIP:NM_001308110:exon1:c.A66C:p.R22S,MBIP:NM_016586:exon1:c.A66C:p.R22S 0.93 0.88 0.94 0.96 0.94 0.94 0.9470 0.8636 0.9683 0.9496 0.9805 0.9531 0.9615 0.9446 0.92 0.87 0.95 0.91 0.84 rs3168891 COSM1600069 1(urinary_tract);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.355 N 0.996 0.230 P -1.935 0.002 N 1.72 0.272 T 0.99 0.014 N 0.068 0.392 -0.990 0.326 T 0.000 0.000 T . . . 0.964 0.186 10.45 0.700 0.089 0.020 0.061 N c -0.404 -0.270 1.000 0.747 0.442 0.072 0 5.05 0.674 1.216 0.318 0.101 0.200 1.000 0.715 0.224 0.222 12.515 0.552 . ENSG00000151332.14 Esophagus_Mucosa 0.9488 0.8598 0.9634 0.9577 0.9487 0.9777 0.9516 0.9435 0.9442 0.9295 0.8632 0.9523 0.9305 0.9505 0.9794 0.9510 0.9571 hom 4706.72 143 14 36789729 . T G 4706.72 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.0265;MQ=56.13;MQ0=0;QD=32.91;VQSLOD=3.6193;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4706,373,0 14 36789775 36789775 A T exonic MBIP nonsynonymous SNV MBIP:NM_001144891:exon1:c.T20A:p.L7H,MBIP:NM_001308110:exon1:c.T20A:p.L7H,MBIP:NM_016586:exon1:c.T20A:p.L7H 0.79 0.39 0.89 0.96 0.94 0.91 0.9084 0.4800 0.9456 0.9494 0.9805 0.9505 0.9426 0.9303 0.79 0.5 0.95 0.71 0.7 rs2899849 . . . . . . . . . . . . . 0.263 0.184 T 0.003 0.102 B 0.004 0.093 B 0.726 0.099 N 1 0.090 P 1.61 0.413 L 0.29 0.589 T -0.54 0.166 N 0.081 0.488 -1.003 0.291 T 0.000 0.000 T . . . -0.317 0.067 0.607 0.747 0.105 0.028 0.074 N c -1.083 -1.043 1.0 0.983 0.442 0.072 0 1.35 0.210 0.238 0.176 1.140 0.893 0.000 0.063 0.378 0.251 2.885 0.053 . ENSG00000151332.14|ENSG00000151332.14|ENSG00000151332.14|ENSG00000151332.14|ENSG00000151332.14 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis 0.9179 0.4725 0.9405 0.9473 0.9488 0.9776 0.9495 0.9252 0.9293 0.8179 0.4745 0.9245 0.9139 0.95 0.9794 0.9497 0.9273 hom 3342.44 112 14 36789775 . A T 3342.44 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=56.25;MQ0=0;QD=29.84;VQSLOD=5.2057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:112:99:3342,280,0 14 37135752 37135752 C T exonic PAX9 synonymous SNV PAX9:NM_006194:exon4:c.C717T:p.H239H 0.16 0.013 0.12 0.32 0.22 0.17 0.2163 0.0589 0.1235 0.3330 0.2492 0.2437 0.2010 0.1832 0.15 0.048 0.21 0.11 0.098 rs12881240 COSM1162586 1(pancreas) Likely benign Selective_tooth_agenesis RCV000405936.1 Human_Phenotype_Ontology:MedGen HP:0001592:C1970308 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1816 0.0421 0.0968 0.1646 0.2991 0.1739 0.2148 0.1907 0.1724 0.1653 0.0460 0.1241 0.1523 0.3080 0.1738 0.2195 0.1718 het 89.75 10 14 37135752 . C T 89.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.072;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.036;QD=8.98;ReadPosRankSum=0.365;VQSLOD=10.3390;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:99:120,0,149 14 37736325 37736325 A G exonic MIPOL1 nonsynonymous SNV MIPOL1:NM_138731:exon5:c.A202G:p.S68G,MIPOL1:NM_001195296:exon6:c.A202G:p.S68G,MIPOL1:NM_001195297:exon6:c.A202G:p.S68G . . . . . . 1.68e-05 0 0 0 0 1.53e-05 0 6.131e-05 . . . . . rs143309588 . . . . . . . . . . . . . 0.605 0.171 T 0.001 0.067 B 0.002 0.063 B 0.982 0.078 N 1 0.090 N 0.785 0.196 N 0.84 0.478 T -1.68 0.401 N 0.218 0.267 -1.000 0.299 T 0.084 0.329 T 0.007 0.189 T -1.497 0.017 0.003 0.830 0.140 0.007 0.029 N c -1.293 -1.409 0.131 0.171 0.706 0.609 0 -5.46 0.024 -0.603 0.057 -0.305 0.080 0.000 0.063 0.039 0.156 3.947 0.088 . . . 1.64e-05 0 0 0 0 0 2.729e-05 0 3.255e-05 . . . . . . . . het 1315.94 90 14 37736325 . A G 1315.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.399;DP=90;Dels=0.00;FS=1.760;HRun=1;HaplotypeScore=3.8225;MQ=59.69;MQ0=0;MQRankSum=-0.149;QD=14.62;ReadPosRankSum=-0.927;VQSLOD=4.2096;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,55:90:99:1346,0,930 14 38061742 38061742 C T exonic FOXA1 nonsynonymous SNV FOXA1:NM_004496:exon2:c.G247A:p.A83T 0.58 0.37 0.66 0.84 0.58 0.55 0.6084 0.4258 0.7239 0.8638 0.6351 0.5915 0.6080 0.5588 0.54 0.44 0.59 0.46 0.62 rs7144658 COSM3753953 1(liver);1(large_intestine) . . . . . . . . . . . 0.014 0.531 D 0.009 0.139 B 0.013 0.154 B 0.068 0.217 N 0.021 0.395 P 0.635 0.160 N 2.36 0.161 T -0.23 0.107 N 0.011 0.001 -1.032 0.198 T 0.000 0.000 T . . . 2.761 0.393 21.2 0.996 0.767 0.840 0.428 D c -0.499 -0.378 1.000 0.747 0.598 0.340 0 2.96 0.332 1.561 0.357 0.925 0.434 1.000 0.715 0.667 0.302 5.555 0.163 Fork-head N-terminal ENSG00000151338.14|ENSG00000151338.14|ENSG00000183032.6|ENSG00000259087.1 Cells_Transformed_fibroblasts|Pancreas|Pancreas|Stomach 0.6161 0.4212 0.7140 0.5482 0.8646 0.6299 0.5940 0.6022 0.5581 0.5746 0.4337 0.7024 0.5464 0.8659 0.6300 0.6035 0.6047 hom 1763.62 57 14 38061742 . C T 1763.62 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.94;VQSLOD=13.7070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1797,150,0 14 38266074 38266074 C T exonic TTC6 synonymous SNV TTC6:NM_001310135:exon22:c.C3999T:p.D1333D 0.25 0.015 0.28 0.3 0.43 0.3 0.3713 0.0786 0.2338 0.2835 0.4090 0.4612 0.3894 0.3173 0.33 0.095 0.45 0.11 0.43 rs9805910 COSM147766 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3681 0.0740 0.2427 0.4382 0.2741 0.4107 0.4616 0.3916 0.3124 0.3268 0.0812 0.2733 0.4139 0.2744 0.3924 0.4585 0.3763 het 1040.07 83 14 38266074 . C T 1040.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.970;DP=83;Dels=0.00;FS=0.833;HRun=0;HaplotypeScore=0.9578;MQ=59.72;MQ0=0;MQRankSum=0.397;QD=12.53;ReadPosRankSum=0.333;VQSLOD=6.0670;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,39:83:99:1070,0,1085 14 38277999 38277999 C T exonic TTC6 nonsynonymous SNV TTC6:NM_001310135:exon26:c.C4565T:p.T1522I 0.29 0.14 0.51 0.087 0.39 0.46 0.3598 0.1702 0.5020 0.1012 0.3934 0.3715 0.3951 0.4538 0.31 0.17 0.38 0.3 0.43 rs4901284 COSM3999259;COSM3999258;COSM3999260 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.463 0.086 T 0.0 0.026 B 0.002 0.063 B 0.622 0.108 N . . . 0.06 0.082 N 0.32 0.585 T 1.61 0.006 N 0.02 0.017 -0.931 0.441 T 0.000 0.000 T . . . 2.083 0.311 16.75 0.085 0.001 0.011 0.040 N c -0.598 -0.478 0.609 0.218 0.554 0.246 0 4.48 0.538 1.223 0.319 -0.760 0.034 0.878 0.307 0.151 0.205 7.704 0.276 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain . . 0.3656 0.1673 0.4823 0.4102 0.1 0.3895 0.3670 0.3824 0.4501 0.3068 0.1642 0.4783 0.4272 0.1027 0.4142 0.3703 0.3778 het 2224.48 249 14 38277999 . C T 2224.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.620;DP=249;Dels=0.00;FS=0.471;HRun=0;HaplotypeScore=0.8941;MQ=58.98;MQ0=0;MQRankSum=0.381;QD=8.93;ReadPosRankSum=-0.721;VQSLOD=6.3604;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:148,101:249:99:2254,0,3824 14 39517925 39517925 T C exonic SEC23A synonymous SNV SEC23A:NM_006364:exon15:c.A1668G:p.K556K 0.25 0.067 0.28 0.31 0.35 0.3 0.3097 0.1130 0.2688 0.3215 0.3945 0.3460 0.3018 0.2710 0.27 0.11 0.34 0.32 0.29 rs11556216 COSM3753955;COSM3753956 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3034 0.1060 0.2626 0.1728 0.3079 0.3972 0.3478 0.2830 0.2624 0.2934 0.1057 0.2637 0.1887 0.2980 0.3837 0.3811 0.3566 het 711.63 54 14 39517925 . T C 711.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.608;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6634;MQ=59.31;MQ0=0;MQRankSum=-0.173;QD=13.18;ReadPosRankSum=0.711;VQSLOD=6.6749;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,29:54:99:742,0,634 14 39556185 39556185 G C exonic SEC23A nonsynonymous SNV SEC23A:NM_006364:exon6:c.C631G:p.L211V 0.78 0.86 0.76 0.65 0.83 0.76 0.8042 0.8614 0.7304 0.6526 0.8597 0.8316 0.8095 0.7659 0.84 0.86 0.83 0.88 0.86 rs8018720 COSM4148091;COSM4148092 1(thyroid) . . . . . . . . . . . 1.0 0.044 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.186 P -0.28 0.037 N -2.15 0.865 D 0.72 0.023 N 0.046 0.026 -0.966 0.381 T 0.000 0.000 T . . . 1.668 0.262 14.23 0.807 0.129 0.032 0.081 N c -0.478 -0.282 1.000 0.401 0.732 0.924 0 4.77 0.603 2.534 0.451 0.067 0.174 0.978 0.348 0.931 0.405 12.047 0.526 Sec23/Sec24\x2c trunk domain|von Willebrand factor\x2c type A ENSG00000182400.10 Adipose_Subcutaneous 0.8026 0.8603 0.7404 0.8193 0.6522 0.8657 0.8329 0.8010 0.7653 0.8321 0.8568 0.7494 0.8245 0.6424 0.8560 0.8367 0.8408 hom 3051.69 105 14 39556185 . G C 3051.69 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.93;MQ0=0;QD=29.06;VQSLOD=8.0720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3085,226,0 14 39644498 39644498 G A exonic PNN synonymous SNV PNN:NM_002687:exon1:c.G15A:p.V5V 0.19 0.0091 0.2 0.23 0.28 0.28 0.2511 0.0494 0.2005 0.2405 0.2601 0.2800 0.2991 0.2914 0.19 0.052 0.26 0.18 0.16 rs1061583 COSM3753957 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2452 0.0396 0.1899 0.4235 0.2373 0.2467 0.2611 0.2774 0.2881 0.1947 0.0438 0.2165 0.4106 0.2229 0.2391 0.2590 0.2648 het 361.60 49 14 39644498 . G A 361.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.815;DP=49;Dels=0.00;FS=8.950;HRun=1;HaplotypeScore=3.8066;MQ=59.53;MQ0=0;MQRankSum=-0.238;QD=7.38;ReadPosRankSum=2.167;VQSLOD=3.0360;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,18:49:99:392,0,841 14 39650234 39650234 A T exonic PNN nonsynonymous SNV PNN:NM_002687:exon9:c.A1321T:p.T441S 0.9 0.93 0.82 0.94 0.94 0.85 0.9155 0.9393 0.8454 0.9538 0.9207 0.9372 0.9218 0.8400 0.94 0.94 0.94 0.95 0.96 rs2180792 . . . . . . . . . . . . . 0.642 0.050 T . . . . . . 0.021 0.269 N 1 0.090 P . . . 0.95 0.433 T 0.35 0.038 N 0.005 0.004 -0.938 0.429 T 0.000 0.000 T . . . -1.118 0.028 0.009 0.855 0.154 0.295 0.236 N c -0.455 -0.420 1.000 0.747 0.722 0.854 0 3.5 0.390 -0.322 0.080 0.152 0.238 0.000 0.063 0.998 0.697 1.101 0.016 . . . 0.9131 0.9367 0.8484 0.9217 0.9549 0.9267 0.9392 0.9125 0.8410 0.9305 0.9297 0.8473 0.9238 0.95 0.9210 0.9360 0.9277 hom 3124.91 97 14 39650234 . A T 3124.91 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7323;MQ=59.76;MQ0=0;QD=32.22;VQSLOD=9.0125;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3158,259,0 14 39703324 39703324 A G exonic MIA2 synonymous SNV MIA2:NM_001329214:exon1:c.A6G:p.A2A,MIA2:NM_054024:exon1:c.A6G:p.A2A 0.6 0.86 0.5 0.65 0.47 0.39 0.5268 0.8262 0.5596 0.6805 0.4397 0.4947 0.5267 0.3973 0.6 0.82 0.49 0.61 0.46 rs7141840 COSM3753958 1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5187 0.8285 0.5623 0.6534 0.6773 0.4348 0.4803 0.5279 0.3917 0.5751 0.8236 0.5467 0.6424 0.6929 0.4513 0.4512 0.5092 het 603.14 46 14 39703324 . A G 603.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.903;DP=46;Dels=0.00;FS=2.843;HRun=0;HaplotypeScore=2.9976;MQ=60.00;MQ0=0;MQRankSum=0.693;QD=13.11;ReadPosRankSum=-1.198;VQSLOD=5.8708;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,24:46:99:633,0,530 14 39736680 39736680 T C exonic MIA2 nonsynonymous SNV MIA2:NM_001247989:exon1:c.T17C:p.V6A,MIA2:NM_005930:exon1:c.T17C:p.V6A,MIA2:NM_203355:exon1:c.T17C:p.V6A 0.91 0.95 0.83 0.94 0.94 0.86 0.9223 0.9591 0.8409 0.9590 0.9172 0.9403 0.9372 0.8659 0.95 0.96 0.94 0.99 0.87 rs7140561 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.197 P -2.25 0.001 N 3.46 0.055 T 1.55 0.007 N 0.007 0.001 -1.049 0.146 T 0.000 0.000 T . . . -1.980 0.008 0.001 0.536 0.049 0.005 0.023 N c -1.487 -1.386 1.000 0.747 0.442 0.072 0 2.55 0.296 0.954 0.286 -1.008 0.022 0.131 0.231 0.002 0.062 4.750 0.123 . . . 0.9198 0.9607 0.8451 0.9453 0.9590 0.9239 0.9420 0.9150 0.8676 0.9403 0.9574 0.8477 0.9603 0.9561 0.9210 0.9385 0.9294 hom 1719.45 59 14 39736680 . T C 1719.45 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.14;VQSLOD=13.5419;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1752,132,0 14 39777676 39777676 G C exonic MIA2 nonsynonymous SNV MIA2:NM_001247988:exon13:c.G991C:p.E331Q,MIA2:NM_001247989:exon13:c.G1093C:p.E365Q,MIA2:NM_001247990:exon13:c.G853C:p.E285Q,MIA2:NM_005930:exon13:c.G1078C:p.E360Q,MIA2:NM_203354:exon13:c.G1042C:p.E348Q,MIA2:NM_203355:exon13:c.G1078C:p.E360Q,MIA2:NM_203356:exon13:c.G991C:p.E331Q,MIA2:NM_001329214:exon18:c.G2902C:p.E968Q 0.54 0.44 0.56 0.42 0.65 0.65 0.6187 0.4700 0.5369 0.4514 0.6760 0.6572 0.6433 0.6705 0.6 0.47 0.66 0.61 0.43 rs1950952 . . . . . . . . . . . . . 0.466 0.129 T 0.128 0.265 B 0.098 0.319 B . . . 0.998 0.223 P 1.305 0.328 L 2.27 0.789 T -0.82 0.301 N 0.042 0.064 -0.900 0.480 T 0.000 0.000 T . . . 2.024 0.304 16.36 0.992 0.539 0.738 0.358 D c -0.107 0.015 0.113 0.167 0.615 0.372 0 4.5 0.542 2.626 0.459 0.120 0.210 1.000 0.715 0.753 0.322 8.212 0.305 . ENSG00000258940.2|ENSG00000271424.1|ENSG00000259100.1|ENSG00000258940.2|ENSG00000258940.2 Artery_Tibial|Brain_Cerebellum|Esophagus_Muscularis|Nerve_Tibial|Whole_Blood 0.6159 0.4568 0.5313 0.5913 0.4437 0.6807 0.6573 0.6011 0.6683 0.5884 0.4581 0.5494 0.6033 0.4603 0.6706 0.6579 0.6327 hom 1686.78 52 14 39777676 . G C 1686.78 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.31;MQ0=0;QD=32.44;VQSLOD=8.4564;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1720,135,0 14 39818028 39818028 A G exonic MIA2 nonsynonymous SNV MIA2:NM_001247988:exon22:c.A1879G:p.I627V,MIA2:NM_203355:exon22:c.A1966G:p.I656V,MIA2:NM_001247989:exon23:c.A2110G:p.I704V,MIA2:NM_001247990:exon23:c.A1870G:p.I624V,MIA2:NM_005930:exon23:c.A2095G:p.I699V,MIA2:NM_203354:exon23:c.A2059G:p.I687V,MIA2:NM_203356:exon23:c.A2008G:p.I670V,MIA2:NM_001329214:exon28:c.A3919G:p.I1307V 0.38 0.25 0.34 0.59 0.41 0.35 0.3871 0.2582 0.3590 0.5897 0.3270 0.4065 0.4141 0.3259 0.35 0.27 0.39 0.4 0.37 rs1140952 COSM3999267;COSM1562643 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.033 T 0.0 0.067 B 0.002 0.093 B 0.723 0.063 N 1 0.090 P 0.345 0.112 N 3.49 0.065 T -0.05 0.082 N 0.017 0.018 -0.991 0.322 T 0.000 0.000 T . . . -2.231 0.005 0.001 0.201 0.007 0.004 0.020 N c -1.348 -1.363 0.116 0.168 0.732 0.924 0 -2.01 0.070 -1.385 0.026 -0.150 0.108 0.000 0.063 0.033 0.150 8.109 0.299 . ENSG00000258940.2 Artery_Aorta 0.3860 0.2574 0.3551 0.5268 0.5854 0.3238 0.3961 0.4248 0.3284 0.3497 0.2491 0.3969 0.4834 0.5750 0.3210 0.3833 0.3781 het 4111.99 250 14 39818028 . A G 4111.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.519;DP=250;DS;Dels=0.00;FS=3.644;HRun=0;HaplotypeScore=1.9662;MQ=58.69;MQ0=0;MQRankSum=-1.159;QD=16.45;ReadPosRankSum=-0.618;VQSLOD=4.3387;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:132,117:250:99:3452,0,3533 14 39818145 39818145 G A exonic MIA2 nonsynonymous SNV MIA2:NM_001247988:exon22:c.G1996A:p.G666R,MIA2:NM_203355:exon22:c.G2083A:p.G695R,MIA2:NM_001247989:exon23:c.G2227A:p.G743R,MIA2:NM_001247990:exon23:c.G1987A:p.G663R,MIA2:NM_005930:exon23:c.G2212A:p.G738R,MIA2:NM_203354:exon23:c.G2176A:p.G726R,MIA2:NM_203356:exon23:c.G2125A:p.G709R,MIA2:NM_001329214:exon28:c.G4036A:p.G1346R 0.31 0.3 0.28 0.16 0.38 0.43 0.3511 0.3284 0.2554 0.1903 0.3955 0.3696 0.3503 0.4237 0.35 0.32 0.37 0.39 0.34 rs1060878 COSM3753959;COSM3753960;COSM5828107 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.003 0.363 N 1.000 0.192 P -1.965 0.002 N 1.91 0.233 T 3.57 0.002 N 0.061 0.185 -0.949 0.412 T 0.000 0.000 T . . . 0.799 0.170 9.459 0.080 0.001 0.025 0.069 N c -0.917 -0.630 0.285 0.190 0.651 0.465 0 3.81 0.429 1.546 0.356 0.244 0.267 1.000 0.715 1.000 0.888 4.512 0.112 . . . 0.3459 0.3229 0.2531 0.2741 0.1918 0.4 0.3760 0.3322 0.4218 0.3649 0.3324 0.2799 0.3146 0.1891 0.3834 0.4044 0.3637 het 2279.62 161 14 39818145 . G A 2279.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.301;DP=161;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8178;MQ=58.22;MQ0=1;MQRankSum=-1.264;QD=14.16;ReadPosRankSum=0.999;VQSLOD=3.7471;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,90:161:99:2310,0,1863 14 42360633 42360633 T C exonic LRFN5 synonymous SNV LRFN5:NM_001346173:exon3:c.T1566C:p.S522S,LRFN5:NM_152447:exon4:c.T1566C:p.S522S 0.71 0.66 0.64 0.74 0.71 0.76 0.6975 0.6830 0.5987 0.7476 0.6031 0.7018 0.7291 0.7687 0.7 0.69 0.71 0.7 0.71 rs6572117 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6939 0.6792 0.6083 0.8419 0.7531 0.5964 0.6977 0.7102 0.7675 0.6748 0.6870 0.6376 0.8311 0.7580 0.6011 0.6741 0.6847 hom 8446.70 248 14 42360633 . T C 8446.70 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6207;MQ=59.65;MQ0=0;QD=34.06;VQSLOD=8.9757;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8446,650,0 14 44974966 44974966 G A exonic FSCB nonsynonymous SNV FSCB:NM_032135:exon1:c.C1225T:p.P409S 0.27 0.29 0.31 0.4 0.12 0.25 0.1867 0.2847 0.3517 0.3937 0.0996 0.1095 0.1763 0.2496 0.16 0.26 0.11 0.24 0.049 rs1959379 COSM3753962 1(haematopoietic_and_lymphoid_tissue);7(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.206 0.199 T 0.002 0.090 B 0.003 0.080 B . . . 1 0.090 P 1.32 0.331 L 2.12 0.197 T -2.91 0.609 D 0.031 0.012 -0.931 0.440 T 0.000 0.000 T . . . -1.513 0.017 0.003 0.522 0.046 0.042 0.095 N c -1.626 -1.768 0.967 0.289 0.556 0.300 0 -8.33 0.009 -1.421 0.025 -1.156 0.017 0.000 0.063 0.000 0.016 3.309 0.065 . ENSG00000258747.1 Testis 0.1913 0.2798 0.3429 0.1707 0.3980 0.1003 0.1074 0.1599 0.2474 0.1757 0.2909 0.3126 0.1867 0.3716 0.0997 0.0996 0.1448 het 1258.50 91 14 44974966 . G A 1258.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.395;DP=91;Dels=0.00;FS=15.157;HRun=0;HaplotypeScore=0.9867;MQ=59.18;MQ0=0;MQRankSum=2.042;QD=13.83;ReadPosRankSum=-0.888;VQSLOD=3.2373;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,49:91:99:1288,0,1262 14 44975052 44975052 A G exonic FSCB nonsynonymous SNV FSCB:NM_032135:exon1:c.T1139C:p.L380P 0.27 0.29 0.31 0.4 0.12 0.25 0.1862 0.2830 0.3512 0.3946 0.0996 0.1090 0.1759 0.2497 0.16 0.27 0.11 0.28 0.049 rs3825630 COSM147770 1(stomach);7(soft_tissue);1(oesophagus);3(prostate);2(large_intestine) . . . . . . . . . . . 0.261 0.165 T 0.004 0.112 B 0.003 0.080 B . . . 1 0.090 P -0.895 0.014 N 2.27 0.174 T -1.78 0.420 N 0.022 0.005 -0.903 0.477 T 0.000 0.000 T . . . -0.243 0.073 0.890 0.601 0.062 0.007 0.031 N c -1.320 -1.352 0.001 0.081 0.556 0.300 0 -0.16 0.127 -1.168 0.032 -0.419 0.060 0.000 0.063 0.000 0.016 6.212 0.197 . ENSG00000258747.1 Testis 0.1912 0.2792 0.3429 0.1705 0.3996 0.1003 0.1073 0.1602 0.2475 0.1755 0.2910 0.3096 0.1887 0.3720 0.0995 0.0994 0.1455 het 3022.61 234 14 44975052 . A G 3022.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.956;DP=234;Dels=0.00;FS=1.013;HRun=1;HaplotypeScore=4.5904;MQ=59.65;MQ0=0;MQRankSum=0.385;QD=12.92;ReadPosRankSum=-0.324;VQSLOD=5.8436;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,118:234:99:3053,0,3101 14 44975511 44975511 G A exonic FSCB nonsynonymous SNV FSCB:NM_032135:exon1:c.C680T:p.P227L 0.11 0.0053 0.1 0.083 0.23 0.15 0.1829 0.0342 0.0748 0.0910 0.3612 0.2285 0.2070 0.1430 0.15 0.038 0.21 0.022 0.17 rs45478391 COSM5020398 7(soft_tissue) . . . . . . . . . . . 0.989 0.020 T 0.093 0.238 B 0.016 0.166 B . . . 1 0.090 P 0.975 0.246 L 1.89 0.237 T -1.91 0.444 N 0.032 0.012 -0.963 0.386 T 0.000 0.000 T . . . -1.548 0.016 0.002 0.508 0.044 0.020 0.060 N c -1.330 -1.461 0.000 0.057 0.487 0.133 0 -5.98 0.020 -0.274 0.085 -1.671 0.008 0.000 0.063 0.000 0.016 2.104 0.034 . . . 0.1816 0.0320 0.0819 0.1053 0.0887 0.3700 0.2263 0.1804 0.1429 0.1858 0.0320 0.0835 0.0993 0.0939 0.3611 0.2480 0.2444 het 1436.32 108 14 44975511 . G A 1436.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.371;DP=108;Dels=0.00;FS=6.184;HRun=0;HaplotypeScore=2.5550;MQ=59.31;MQ0=0;MQRankSum=0.022;QD=13.30;ReadPosRankSum=0.864;VQSLOD=5.0518;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,51:108:99:1466,0,1470 14 44975606 44975606 G T exonic FSCB nonsynonymous SNV FSCB:NM_032135:exon1:c.C585A:p.H195Q 0.27 0.29 0.31 0.4 0.12 0.26 0.1860 0.2798 0.3513 0.3939 0.0996 0.1087 0.1751 0.2499 0.16 0.27 0.11 0.28 0.049 rs3809429 COSM147771 1(stomach);7(soft_tissue);2(large_intestine) . . . . . . . . . . . 0.12 0.279 T 0.6 0.374 P 0.275 0.383 B . . . 1.000 0.090 P 1.445 0.365 L 1.86 0.243 T -2.38 0.524 N 0.079 0.071 -0.937 0.431 T 0.000 0.000 T . . . 1.165 0.206 11.56 0.933 0.225 0.026 0.071 N c -1.272 -1.380 0.000 0.012 0.487 0.133 0 -2.28 0.064 -0.115 0.106 -1.010 0.022 0.269 0.248 0.808 0.339 4.829 0.127 . ENSG00000258747.1 Testis 0.1912 0.2793 0.3430 0.1707 0.3984 0.1003 0.1073 0.1601 0.2478 0.1753 0.2901 0.3110 0.1887 0.3708 0.0996 0.0993 0.1456 het 2046.76 164 14 44975606 . G T 2046.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.649;DP=164;Dels=0.00;FS=7.156;HRun=1;HaplotypeScore=5.0432;MQ=59.77;MQ0=0;MQRankSum=1.430;QD=12.48;ReadPosRankSum=0.623;VQSLOD=4.5889;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,78:164:99:2077,0,2304 14 45636328 45636328 A G exonic FANCM nonsynonymous SNV FANCM:NM_001308133:exon10:c.A1886G:p.N629S,FANCM:NM_001308134:exon11:c.A1964G:p.N655S,FANCM:NM_020937:exon11:c.A1964G:p.N655S 0.0066 0.0008 0.0058 . 0.027 0.001 0.0106 0.0030 0.0037 0 0.0070 0.0160 0.0166 0.0045 0.013 0.0034 0.018 . 0.0082 rs61753893 COSM5020152 2(soft_tissue) other|Benign Fanconi_anemia|not_specified RCV000227373.3|RCV000246701.1 MedGen:Orphanet:SNOMED_CT|MedGen C0015625:ORPHA84:30575002|CN169374 . . . . . . 0.694 0.094 T 0.001 0.112 B 0.001 0.063 B 0.996 0.079 N 1.000 0.189 N 0.345 0.112 N 2.82 0.164 T -0.41 0.178 N 0.016 0.003 -0.973 0.366 T 0.007 0.026 T . . . 0.391 0.132 6.538 0.868 0.162 0.019 0.059 N c -0.979 -0.903 0.002 0.089 0.651 0.465 0 -1.0 0.096 -0.410 0.072 0.234 0.260 0.013 0.187 0.401 0.254 5.765 0.174 . . . 0.0107 0.0032 0.0049 0.0064 0 0.0078 0.0176 0.0115 0.0048 0.0115 0.0034 0.0048 0.0066 0 0.0083 0.0186 0.0122 het 1499.31 87 14 45636328 . A G 1499.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.191;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7791;MQ=59.23;MQ0=0;MQRankSum=0.145;QD=17.23;ReadPosRankSum=-1.281;VQSLOD=5.5878;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,55:87:99:1529,0,832 14 45644589 45644589 G T exonic FANCM nonsynonymous SNV FANCM:NM_001308133:exon13:c.G2554T:p.V852L,FANCM:NM_020937:exon14:c.G2632T:p.V878L 0.23 0.45 0.17 0.13 0.13 0.2 0.1568 0.3619 0.1799 0.1421 0.1161 0.1197 0.1411 0.1925 0.19 0.33 0.12 0.22 0.049 rs1367580 COSM3753964 1(thyroid);1(large_intestine) Benign|Benign not_specified|Fanconi_anemia RCV000247806.1|RCV000341390.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0015625:ORPHA84:30575002 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.815 0.068 N 1 0.090 P -2.015 0.002 N 2.94 0.162 T 0.96 0.016 N 0.003 0.005 -0.903 0.477 T 0.000 0.000 T . . . -1.480 0.017 0.003 0.098 0.001 0.004 0.021 N c -1.339 -1.159 0.308 0.193 0.615 0.372 0 4.08 0.467 0.306 0.189 0.117 0.209 0.024 0.198 0.028 0.145 6.780 0.227 . ENSG00000129534.9|ENSG00000129534.9|ENSG00000129534.9|ENSG00000258998.1|ENSG00000187790.6|ENSG00000129534.9|ENSG00000258998.1|ENSG00000258949.1 Adipose_Subcutaneous|Breast_Mammary_Tissue|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis 0.1490 0.3582 0.1632 0.1403 0.1368 0.1155 0.1173 0.1376 0.1835 0.1891 0.3546 0.1599 0.1325 0.1253 0.1158 0.1211 0.1636 het 691.67 78 14 45644589 . G T 691.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.895;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6246;MQ=57.89;MQ0=0;MQRankSum=0.031;QD=8.87;ReadPosRankSum=0.134;VQSLOD=5.0278;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,29:78:99:722,0,1314 14 45650900 45650900 A G exonic FANCM nonsynonymous SNV FANCM:NM_001308133:exon15:c.A4300G:p.I1434V,FANCM:NM_020937:exon16:c.A4378G:p.I1460V 0.1 0.0068 0.11 0.12 0.12 0.19 0.1200 0.0236 0.1246 0.1286 0.1181 0.1128 0.1315 0.1940 0.076 0.023 0.1 0.065 0.082 rs78211950 COSM3753965 1(large_intestine) Benign|Likely benign not_specified|Fanconi_anemia RCV000248939.1|RCV000287351.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0015625:ORPHA84:30575002 . . . . . . 0.98 0.021 T 0.039 0.197 B 0.011 0.145 B 0.467 0.123 N 1 0.090 P 0 0.065 N 3.07 0.148 T -0.15 0.105 N 0.024 0.044 -1.016 0.249 T 0.000 0.002 T . . . -0.170 0.078 1.267 0.263 0.013 0.024 0.068 N c -0.859 -0.900 1.000 0.500 0.615 0.372 0 -1.19 0.090 -0.165 0.099 -2.052 0.005 0.000 0.063 0.556 0.280 0.810 0.010 . ENSG00000129534.9 Adipose_Subcutaneous 0.1135 0.0186 0.1121 0.1359 0.1233 0.1149 0.1034 0.1092 0.1849 0.0856 0.0231 0.1026 0.1291 0.1108 0.1145 0.1076 0.1334 het 212.94 29 14 45650900 . A G 212.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.941;DP=29;Dels=0.00;FS=1.744;HRun=0;HaplotypeScore=0.0000;MQ=57.82;MQ0=0;MQRankSum=0.161;QD=7.34;ReadPosRankSum=1.491;VQSLOD=3.5984;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,10:29:99:243,0,476 14 45665468 45665468 C G exonic FANCM nonsynonymous SNV FANCM:NM_001308133:exon20:c.C5356G:p.P1786A,FANCM:NM_020937:exon21:c.C5434G:p.P1812A 0.11 0.0068 0.11 0.12 0.11 0.22 0.1158 0.0211 0.1190 0.1258 0.1175 0.1068 0.1289 0.2026 0.078 0.023 0.11 0.076 0.098 rs3736772 COSM3753966 1(large_intestine) Benign|Likely benign not_specified|Fanconi_anemia RCV000248758.1|RCV000260628.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0015625:ORPHA84:30575002 . . . . . . 0.178 0.221 T 0.003 0.102 B 0.005 0.104 B 0.104 0.197 N 1 0.090 P 2.015 0.552 M 2.56 0.221 T -2.67 0.660 D 0.05 0.265 -1.051 0.141 T 0.002 0.006 T . . . 0.405 0.133 6.657 0.705 0.090 0.039 0.092 N c -0.393 -0.455 0.653 0.222 0.615 0.372 0 3.29 0.366 1.373 0.337 0.935 0.490 0.028 0.201 0.357 0.247 14.452 0.668 . ENSG00000129534.9 Adipose_Subcutaneous 0.1171 0.0186 0.1128 0.1394 0.1244 0.1190 0.1056 0.1136 0.2009 0.0870 0.0234 0.1029 0.1325 0.1106 0.1193 0.1088 0.1375 het 3228.29 203 14 45665468 . C G 3228.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.028;DP=203;DS;Dels=0.00;FS=5.102;HRun=0;HaplotypeScore=1.5778;MQ=59.17;MQ0=0;MQRankSum=-0.247;QD=15.90;ReadPosRankSum=-1.329;VQSLOD=5.1347;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,113:203:99:3258,0,2448 14 45711594 45711594 T C exonic MIS18BP1 synonymous SNV MIS18BP1:NM_018353:exon4:c.A786G:p.K262K 0.29 0.65 0.19 0.14 0.12 0.19 0.1669 0.5450 0.1878 0.1569 0.1087 0.1107 0.1460 0.1705 0.25 0.53 0.11 0.28 0.16 rs1266209 COSM3753968 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1585 0.5508 0.1813 0.1147 0.1534 0.1095 0.1105 0.1459 0.1677 0.2384 0.5431 0.1718 0.1026 0.1389 0.1117 0.1129 0.1656 het 1851.08 147 14 45711594 . T C 1851.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.446;DP=147;Dels=0.00;FS=2.063;HRun=0;HaplotypeScore=3.6581;MQ=58.83;MQ0=0;MQRankSum=-0.149;QD=12.51;ReadPosRankSum=0.215;VQSLOD=6.1516;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,75:147:99:1881,0,1863 14 45711988 45711988 C A exonic MIS18BP1 nonsynonymous SNV MIS18BP1:NM_018353:exon3:c.G634T:p.A212S 0.0012 . 0.0014 . 0.005 . 0.0037 0.0012 0.0025 0 0.0015 0.0059 0.0022 0.0002 0.0047 0.0011 0.0065 . . rs138267500 . . . . . . . . . . . . . 0.517 0.073 T 0.001 0.067 B 0.002 0.063 B 0.221 0.034 N 1 0.090 N 1.265 0.321 L 2.23 0.181 T -0.42 0.142 N 0.098 0.100 -1.012 0.261 T 0.015 0.058 T 0.002 0.039 T -0.290 0.069 0.699 0.772 0.114 0.014 0.046 N c -1.349 -1.430 1.000 0.747 0.732 0.924 0 -7.89 0.010 -1.070 0.035 0.807 0.329 0.000 0.063 0.355 0.247 5.236 0.147 . . . 0.0037 0.0012 0.0041 0.0035 0 0.0018 0.0059 0.0035 0.0002 0.0034 0.0010 0.0048 0.0033 0 0.0023 0.0051 0.0061 het 1579.07 140 14 45711988 . C A 1579.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.690;DP=140;Dels=0.00;FS=2.269;HRun=0;HaplotypeScore=4.5980;MQ=59.24;MQ0=0;MQRankSum=0.804;QD=11.28;ReadPosRankSum=0.204;VQSLOD=4.1176;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,69:140:99:1609,0,1806 14 50074122 50074122 T A exonic LRR1 nonsynonymous SNV LRR1:NM_152329:exon3:c.T287A:p.I96N 0.19 0.32 0.32 0.027 0.23 0.039 0.2094 0.3195 0.3281 0.0281 0.1926 0.2187 0.1881 0.0792 0.25 0.3 0.22 0.23 0.17 rs17121605 COSM3736103 1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.588 P -1.87 0.003 N 1.2 0.374 T 4.38 0.000 N 0.023 0.074 -0.970 0.371 T 0.000 0.000 T . . . 0.961 0.186 10.43 0.484 0.040 0.119 0.167 N c -0.799 -0.496 0.820 0.245 0.732 0.924 0 4.43 0.528 3.281 0.511 0.242 0.267 1.000 0.715 0.912 0.389 7.886 0.286 . . . 0.2048 0.3151 0.3344 0.1525 0.0249 0.2032 0.2217 0.2013 0.0627 0.2310 0.3065 0.3413 0.1291 0.0197 0.1949 0.2171 0.1864 het 1355.21 134 14 50074122 . T A 1355.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.975;DP=134;Dels=0.00;FS=2.242;HRun=1;HaplotypeScore=3.7853;MQ=59.36;MQ0=0;MQRankSum=-1.066;QD=10.11;ReadPosRankSum=0.352;VQSLOD=5.6310;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,58:134:99:1385,0,1912 14 50074520 50074520 C T exonic LRR1 nonsynonymous SNV LRR1:NM_152329:exon3:c.C685T:p.R229W 0.17 0.26 0.32 0.027 0.23 0.04 0.1927 0.2605 0.3230 0.0281 0.1927 0.2137 0.1689 0.0616 0.23 0.26 0.22 0.23 0.16 rs7148147 COSM3736104 1(oesophagus);1(skin);1(large_intestine) . . . . . . . . . . . 0.064 0.365 T 0.99 0.615 D 0.53 0.540 P 0.042 0.238 N 0.783 0.810 P 1.865 0.494 L 2.05 0.207 T -2.99 0.621 D 0.168 0.203 -1.025 0.222 T 0.000 0.000 T . . . 6.725 0.919 32 0.998 0.919 0.967 0.701 D c 0.473 0.468 1.000 0.747 0.707 0.730 0 5.1 0.688 4.710 0.613 0.069 0.176 1.000 0.715 0.973 0.468 11.575 0.499 Leucine-rich repeat domain\x2c L domain-like . . 0.1999 0.2593 0.3325 0.1473 0.0242 0.2015 0.2207 0.2006 0.0643 0.2166 0.2547 0.3385 0.1291 0.0198 0.1949 0.2177 0.1855 het 1180.45 90 14 50074520 . C T 1180.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.612;DP=90;Dels=0.00;FS=6.878;HRun=2;HaplotypeScore=1.7719;MQ=59.06;MQ0=0;MQRankSum=1.227;QD=13.12;ReadPosRankSum=-0.964;VQSLOD=5.0415;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,44:90:99:1210,0,1180 14 50100386 50100386 T C exonic DNAAF2 synonymous SNV DNAAF2:NM_001083908:exon1:c.A1482G:p.T494T,DNAAF2:NM_018139:exon1:c.A1482G:p.T494T 0.49 0.42 0.64 0.17 0.76 0.52 0.6486 0.4750 0.5823 0.1544 0.7849 0.7617 0.6811 0.5482 0.67 0.49 0.76 0.4 . rs2985687 COSM4148100;COSM4148101 2(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000081940.6|RCV000259730.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6507 0.4732 0.6006 0.7174 0.1504 0.7809 0.7624 0.6923 0.5482 0.6406 0.4759 0.6376 0.6921 0.1340 0.7841 0.7514 0.7188 het 296.87 48 14 50100386 . T C 296.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.973;DP=48;Dels=0.00;FS=1.245;HRun=0;HaplotypeScore=1.8410;MQ=59.13;MQ0=0;MQRankSum=0.383;QD=6.18;ReadPosRankSum=1.279;VQSLOD=5.0727;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,16:48:99:327,0,906 14 50101370 50101370 G A exonic DNAAF2 synonymous SNV DNAAF2:NM_001083908:exon1:c.C498T:p.A166A,DNAAF2:NM_018139:exon1:c.C498T:p.A166A 0.49 0.44 0.64 0.17 0.76 0.52 0.6525 0.4962 0.5864 0.1562 0.7849 0.7633 0.6862 0.5466 0.69 0.53 0.76 0.14 . rs2985685 COSM1477582;COSM1477583 4(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000081942.6|RCV000403761.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6475 0.4904 0.6016 0.7179 0.1505 0.7784 0.7618 0.6942 0.5485 0.6444 0.4902 0.6376 0.6921 0.1333 0.7843 0.7515 0.7188 het 748.94 71 14 50101370 . G A 748.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.778;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8576;MQ=57.32;MQ0=0;MQRankSum=0.083;QD=10.55;ReadPosRankSum=0.095;VQSLOD=3.7675;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,29:71:99:779,0,1175 14 50131846 50131846 G T exonic POLE2 synonymous SNV POLE2:NM_001197330:exon7:c.C534A:p.V178V,POLE2:NM_001197331:exon8:c.C612A:p.V204V,POLE2:NM_001348384:exon8:c.C612A:p.V204V,POLE2:NM_001348385:exon8:c.C381A:p.V127V,POLE2:NM_002692:exon8:c.C612A:p.V204V 0.21 0.49 0.17 0.027 0.21 0.031 0.1887 0.4625 0.1155 0.0278 0.1672 0.2167 0.1699 0.0560 0.28 0.44 0.2 0.21 0.025 rs3218791 COSM3753971 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1656 0.4383 0.1210 0.1492 0.0219 0.1663 0.1962 0.1678 0.0509 0.2484 0.4417 0.1527 0.1192 0.0197 0.1639 0.1940 0.1650 het 433.68 40 14 50131846 . G T 433.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.044;DP=40;Dels=0.00;FS=4.527;HRun=0;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;MQRankSum=0.879;QD=10.84;ReadPosRankSum=-1.177;VQSLOD=5.8111;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,20:40:99:464,0,514 14 50195679 50195679 A G exonic KLHDC1 synonymous SNV KLHDC1:NM_172193:exon7:c.A603G:p.T201T 0.91 0.66 0.97 1. 1. 1. 0.9747 0.7290 0.9853 0.9995 1 0.9993 0.9791 0.9995 0.91 0.73 1. 0.88 0.99 rs4301946 . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.495 P . . . . . . . . . . . . . . . . . . . . -0.094 0.085 1.778 0.377 0.025 0.003 0.017 N n -0.069 -0.185 0.940 0.274 0.554 0.246 0 -8.57 0.008 -4.846 0.002 -2.272 0.003 0.000 0.063 0.274 0.232 9.921 0.404 . . . 0.9796 0.7224 0.9828 0.9999 0.9997 1.0000 0.9992 0.9863 0.9994 0.9205 0.7232 0.9773 1 1 1 0.9990 0.9857 hom 4341.05 158 14 50195679 . A G 4341.05 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8401;MQ=59.02;MQ0=0;QD=27.48;VQSLOD=8.0997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4340,334,0 14 50251369 50251369 A G exonic NEMF synonymous SNV NEMF:NM_001301732:exon32:c.T3153C:p.N1051N,NEMF:NM_004713:exon33:c.T3216C:p.N1072N 0.96 0.85 0.99 1. 1. 1. 0.9897 0.8886 0.9937 1 1 0.9998 0.9934 0.9998 0.96 0.89 1. 0.96 0.84 rs10143621 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9917 0.8877 0.9929 0.9999 1 1 0.9997 0.9950 0.9997 0.9669 0.8845 0.9893 1 1 1 0.9997 0.9959 hom 1853.04 66 14 50251369 . A G 1853.04 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;QD=28.08;VQSLOD=7.5597;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1886,153,0 14 50298962 50298962 T A exonic NEMF nonsynonymous SNV NEMF:NM_001301732:exon9:c.A769T:p.S257C,NEMF:NM_004713:exon9:c.A769T:p.S257C 0.93 0.75 0.98 0.99 1. 1. 0.9782 0.7833 0.9867 0.9837 1 0.9989 0.9879 0.9993 0.93 0.79 1. 0.92 0.96 rs3100906 . . . . . . . . . . . . . 0.075 0.348 T 0.998 0.764 D 0.96 0.719 D 0.000 0.843 D 0.000 0.588 P 3.06 0.872 M 0.94 0.437 T -2.01 0.468 N 0.063 0.775 -1.076 0.082 T 0.000 0.000 T . . . 5.714 0.780 26.8 0.991 0.523 0.984 0.822 D c 0.693 0.648 1.000 0.436 0.707 0.730 0 5.33 0.756 4.447 0.595 1.061 0.807 1.000 0.715 0.992 0.562 14.460 0.669 . . . 0.9825 0.7798 0.9855 0.9996 0.9871 1.0000 0.9988 0.9880 0.9991 0.9363 0.7808 0.9821 0.9967 0.9883 1 0.9987 0.9929 hom 3849.69 138 14 50298962 . T A 3849.69 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.23;MQ0=0;QD=27.90;VQSLOD=7.8515;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:3849,292,0 14 50583083 50583083 G T exonic VCPKMT nonsynonymous SNV VCPKMT:NM_001040662:exon1:c.C188A:p.A63D,VCPKMT:NM_024558:exon1:c.C188A:p.A63D 0.25 0.22 0.24 0.46 0.15 0.18 0.2166 0.2339 0.2679 0.4940 0.2103 0.1773 0.1985 0.1819 0.17 0.2 0.16 0.21 0.14 rs11157729 COSM3753974 1(thyroid);2(large_intestine) . . . . . . . . . . . 0.57 0.072 T 0.055 0.213 B 0.023 0.214 B 0.502 0.119 N 1 0.090 P 1.345 0.336 L 3.24 0.069 T -1.1 0.285 N 0.038 0.034 -0.944 0.420 T 0.000 0.000 T . . . 2.008 0.302 16.27 0.967 0.302 0.020 0.059 N c -0.584 -0.484 1.000 0.747 0.442 0.072 0 4.2 0.486 0.638 0.242 1.048 0.713 0.015 0.189 0.988 0.529 6.615 0.218 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000125375.10|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000100483.9|ENSG00000258929.2|ENSG00000100483.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid 0.2037 0.2148 0.2493 0.1067 0.4799 0.1989 0.1640 0.1767 0.1764 0.2048 0.2139 0.2428 0.1225 0.4888 0.1952 0.1719 0.1865 het 275.35 34 14 50583083 . G T 275.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.676;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.63;MQ0=0;MQRankSum=-0.617;QD=8.10;ReadPosRankSum=1.179;VQSLOD=5.2573;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,12:34:99:305,0,582 14 50585248 50585248 C T exonic SOS2 synonymous SNV SOS2:NM_006939:exon23:c.G3813A:p.P1271P 0.24 0.22 0.24 0.43 0.15 0.18 0.1980 0.2037 0.2524 0.4443 0.1976 0.1624 0.1883 0.1723 0.17 0.2 0.16 0.21 0.15 rs2227276 COSM3753976;COSM3753975 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign not_specified RCV000419183.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2008 0.2139 0.2496 0.1066 0.4444 0.1993 0.1639 0.1761 0.1737 0.2030 0.2141 0.2434 0.1225 0.4511 0.1942 0.1721 0.1878 het 1058.27 91 14 50585248 . C T 1058.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.927;DP=91;Dels=0.00;FS=10.266;HRun=0;HaplotypeScore=1.8664;MQ=59.32;MQ0=0;MQRankSum=-1.031;QD=11.63;ReadPosRankSum=0.139;VQSLOD=4.4739;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,42:91:99:1088,0,1276 14 50616878 50616878 G A exonic SOS2 synonymous SNV SOS2:NM_006939:exon14:c.C2232T:p.N744N 0.52 0.4 0.65 0.43 0.67 0.52 0.6215 0.4491 0.6669 0.4314 0.6001 0.6867 0.6344 0.5420 0.61 0.46 0.68 0.52 0.63 rs2229869 . . Benign not_specified RCV000420155.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6234 0.4433 0.6662 0.7173 0.4293 0.5955 0.6835 0.6544 0.5419 0.5881 0.4507 0.6555 0.7318 0.4173 0.5965 0.6749 0.6306 het 2735.15 247 14 50616878 . G A 2735.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.632;DP=247;DS;Dels=0.00;FS=2.171;HRun=0;HaplotypeScore=9.0782;MQ=59.51;MQ0=0;MQRankSum=-1.002;QD=11.07;ReadPosRankSum=-0.474;VQSLOD=3.9932;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:138,109:247:99:2765,0,3520 14 50769717 50769717 G A exonic L2HGDH synonymous SNV L2HGDH:NM_024884:exon2:c.C159T:p.I53I 0.6 0.64 0.53 0.65 0.55 0.58 0.5701 0.6178 0.4705 0.6581 0.5778 0.5669 0.5804 0.5730 0.57 0.61 0.56 0.6 0.56 rs2297995 COSM4150799;COSM4150800 1(kidney) Likely benign not_specified RCV000146249.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5649 0.6244 0.4798 0.5143 0.6572 0.5825 0.5680 0.5460 0.5718 0.5955 0.6132 0.4952 0.5199 0.6638 0.5923 0.5867 0.5816 hom 3423.77 106 14 50769717 . G A 3423.77 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6488;MQ=59.21;MQ0=0;QD=32.30;VQSLOD=8.6945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3423,265,0 14 50778816 50778816 A C exonic L2HGDH nonsynonymous SNV L2HGDH:NM_024884:exon1:c.T53G:p.L18R 0.57 0.57 0.59 0.62 0.56 0.53 0.5999 0.5989 0.5625 0.6375 0.6375 0.6078 0.6076 0.5650 0.56 0.56 0.56 0.49 0.39 rs2275591 COSM433105;COSM3753977 1(pancreas);1(thyroid);3(large_intestine) Likely benign not_specified RCV000146250.1 MedGen CN169374 . . . . . . 0.692 0.048 T 0.0 0.174 B 0.0 0.139 B 0.458 0.049 N 1 0.090 P 0 0.065 N -2.95 0.927 D -0.21 0.154 N 0.062 0.144 -1.030 0.204 T 0.000 0.000 T . . . -1.041 0.030 0.013 0.291 0.015 0.013 0.046 N c -1.675 -1.701 1.000 0.747 0.442 0.072 0 -2.22 0.065 -4.897 0.002 -0.366 0.067 0.000 0.063 0.000 0.016 3.870 0.085 . ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000087299.7|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000087299.7|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000087299.7|ENSG00000125375.10|ENSG00000100490.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.5660 0.5631 0.5310 0.5111 0.6112 0.5930 0.5779 0.5537 0.5426 0.5831 0.5544 0.5288 0.5099 0.6190 0.6029 0.5955 0.5871 hom 721.60 27 14 50778816 . A C 721.60 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3123;MQ=58.80;MQ0=0;QD=26.73;VQSLOD=7.5837;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:63.17:755,63,0 14 50788213 50788213 C T exonic ATP5S nonsynonymous SNV ATP5S:NM_001003803:exon2:c.C53T:p.P18L,ATP5S:NM_001003805:exon2:c.C53T:p.P18L,ATP5S:NM_015684:exon2:c.C53T:p.P18L 0.57 0.56 0.58 0.62 0.56 0.54 0.5700 0.5546 0.5213 0.6176 0.5900 0.5794 0.5892 0.5421 0.56 0.55 0.56 0.51 0.55 rs2275592 COSM147776 1(breast);1(stomach);2(haematopoietic_and_lymphoid_tissue);1(pancreas);2(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.995 0.588 P -2.81 0.000 N 1.17 0.382 T 1.38 0.009 N 0.034 0.014 -0.927 0.445 T 0.000 0.000 T . . . 2.448 0.355 19.13 0.909 0.195 0.007 0.028 N c -0.864 -0.520 1.0 0.983 0.731 0.878 0 5.56 0.836 3.097 0.497 0.119 0.209 1.000 0.715 0.997 0.653 10.313 0.427 . ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000087299.7|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000087299.7|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000087299.7|ENSG00000125375.10|ENSG00000100490.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.5686 0.5573 0.5325 0.5124 0.6152 0.5965 0.5803 0.5598 0.5439 0.5791 0.5428 0.5288 0.5099 0.6217 0.6025 0.5939 0.5845 hom 2113.28 67 14 50788213 . C T 2113.28 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.10;MQ0=0;QD=31.54;VQSLOD=9.7776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2146,165,0 14 50799126 50799126 G C exonic CDKL1 nonsynonymous SNV CDKL1:NM_004196:exon8:c.C823G:p.Q275E 0.58 0.6 0.59 0.62 0.56 0.54 0.5754 0.5892 0.5242 0.6189 0.5902 0.5812 0.5947 0.5489 0.57 0.58 0.57 0.53 0.56 rs7161563 COSM3736105;COSM147777 1(breast);1(stomach);1(skin);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 0.000 0.588 P 0.06 0.082 N -0.09 0.641 T 1.05 0.013 N 0.021 0.159 -0.931 0.440 T 0.000 0.000 T . . . -0.514 0.055 0.203 0.669 0.079 0.048 0.104 N c -0.238 -0.179 1.000 0.747 0.563 0.310 0 4.21 0.488 1.774 0.380 0.067 0.174 0.885 0.308 0.670 0.303 8.393 0.315 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000087299.7|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000125375.10|ENSG00000087299.7|ENSG00000125375.10|ENSG00000259071.1|ENSG00000125375.10|ENSG00000125375.10|ENSG00000125375.10|ENSG00000087299.7|ENSG00000125375.10|ENSG00000100490.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.5723 0.5917 0.5358 0.5175 0.6157 0.5968 0.5816 0.5616 0.5458 0.5897 0.5789 0.5312 0.5132 0.6211 0.6028 0.5947 0.5847 hom 3618.83 114 14 50799126 . G C 3618.83 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6511;MQ=58.75;MQ0=0;QD=31.74;VQSLOD=9.1173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3619,274,0 14 51054598 51054598 A G exonic ATL1 synonymous SNV ATL1:NM_015915:exon2:c.A84G:p.P28P,ATL1:NM_181598:exon2:c.A84G:p.P28P,ATL1:NM_001127713:exon3:c.A84G:p.P28P 0.16 0.36 0.12 0.066 0.13 0.064 0.1359 0.3238 0.0866 0.0767 0.1329 0.1377 0.1454 0.0764 0.2 0.31 0.14 0.26 0.074 rs35014209 COSM3753981 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|other|Benign Spastic_paraplegia_3|not_specified|Spastic_Paraplegia\x2c_Dominant RCV000020724.1|RCV000116421.3|RCV000335510.1 MedGen:OMIM:Orphanet|MedGen|MedGen C2931355:182600:ORPHA100984|CN169374|CN239430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1308 0.3193 0.0888 0.1833 0.0762 0.1352 0.1347 0.1524 0.0756 0.1802 0.3181 0.0969 0.1623 0.0753 0.1440 0.1283 0.1283 het 2629.51 186 14 51054598 . A G 2629.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.541;DP=186;Dels=0.00;FS=4.786;HRun=1;HaplotypeScore=5.8044;MQ=59.38;MQ0=0;MQRankSum=-1.165;QD=14.14;ReadPosRankSum=-0.004;VQSLOD=4.1961;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,100:186:99:2660,0,2362 14 51057727 51057727 G A exonic ATL1 synonymous SNV ATL1:NM_015915:exon3:c.G351A:p.E117E,ATL1:NM_181598:exon3:c.G351A:p.E117E,ATL1:NM_001127713:exon4:c.G351A:p.E117E 0.82 0.96 0.81 0.79 0.7 0.8 0.7633 0.9317 0.8330 0.8206 0.7492 0.7237 0.7494 0.7446 0.8 0.93 0.73 0.84 0.71 rs1060197 . . Benign|Likely benign|Benign Spastic_paraplegia_3|not_specified|Spastic_Paraplegia\x2c_Dominant RCV000020720.1|RCV000116420.2|RCV000392328.1 MedGen:OMIM:Orphanet|MedGen|MedGen C2931355:182600:ORPHA100984|CN169374|CN239430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7638 0.9334 0.8280 0.7664 0.8287 0.7589 0.7187 0.7429 0.7431 0.8022 0.9307 0.8373 0.7086 0.8487 0.7662 0.7339 0.7551 het 1145.74 94 14 51057727 . G A 1145.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.087;DP=94;Dels=0.00;FS=0.771;HRun=1;HaplotypeScore=2.7843;MQ=59.36;MQ0=0;MQRankSum=0.896;QD=12.19;ReadPosRankSum=0.927;VQSLOD=6.5920;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,46:94:99:1176,0,1300 14 51204996 51204996 C T exonic NIN synonymous SNV NIN:NM_016350:exon26:c.G3498A:p.Q1166Q,NIN:NM_020921:exon27:c.G5637A:p.Q1879Q,NIN:NM_182944:exon27:c.G5637A:p.Q1879Q,NIN:NM_182946:exon27:c.G5637A:p.Q1879Q 0.51 0.74 0.41 0.32 0.49 0.49 0.5044 0.7011 0.3944 0.3323 0.5508 0.5134 0.5176 0.4922 0.58 0.7 0.52 0.55 0.55 rs11376 . . Likely benign not_specified RCV000117813.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4984 0.7009 0.3907 0.5740 0.3386 0.5568 0.5098 0.5079 0.4939 0.5656 0.6990 0.4125 0.5533 0.3525 0.5467 0.5282 0.5092 het 1130.96 97 14 51204996 . C T 1130.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.509;DP=97;Dels=0.00;FS=10.403;HRun=1;HaplotypeScore=3.9925;MQ=58.80;MQ0=0;MQRankSum=0.933;QD=11.66;ReadPosRankSum=0.156;VQSLOD=4.6611;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,43:97:99:1161,0,1683 14 51223789 51223789 C T exonic NIN nonsynonymous SNV NIN:NM_020921:exon18:c.G3959A:p.G1320E,NIN:NM_182944:exon18:c.G3959A:p.G1320E,NIN:NM_182946:exon18:c.G3959A:p.G1320E 0.76 0.88 0.85 0.68 0.75 0.65 0.7454 0.8567 0.8350 0.6682 0.6757 0.7526 0.7412 0.6515 0.79 0.85 0.76 0.8 0.62 rs2073347 COSM5428255;COSM5428258;COSM5428257;COSM5428256 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000175357.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.028 0.256 N 1.000 0.588 P -2.085 0.002 N 3.8 0.049 T 2.66 0.002 N 0.019 0.508 -0.997 0.309 T 0.000 0.000 T . . . 1.353 0.226 12.54 0.505 0.043 0.071 0.129 N c -0.745 -0.396 1.000 0.747 0.707 0.730 0 6.06 0.983 3.347 0.517 0.154 0.240 0.951 0.329 0.945 0.419 11.633 0.503 . . . 0.7477 0.8544 0.8396 0.8342 0.6638 0.6733 0.7516 0.7592 0.6513 0.7599 0.8613 0.8353 0.8245 0.6617 0.6770 0.7277 0.7229 hom 2531.21 81 14 51223789 . C T 2531.21 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=31.25;VQSLOD=9.2610;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2564,199,0 14 51224374 51224374 T G exonic NIN nonsynonymous SNV NIN:NM_020921:exon18:c.A3374C:p.Q1125P,NIN:NM_182944:exon18:c.A3374C:p.Q1125P,NIN:NM_182946:exon18:c.A3374C:p.Q1125P 0.78 0.92 0.85 0.7 0.76 0.67 0.7533 0.8990 0.8374 0.6809 0.6761 0.7549 0.7434 0.6650 0.81 0.89 0.76 0.84 0.65 rs12882191 . . Benign not_specified RCV000315910.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.119 0.191 N 1 0.090 P -2.125 0.001 N 3.58 0.063 T 1.43 0.014 N 0.015 0.444 -1.024 0.225 T 0.000 0.000 T . . . -2.411 0.004 0.001 0.086 0.001 0.001 0.007 N c -1.575 -1.389 1.000 0.458 0.732 0.924 0 4.07 0.466 0.580 0.233 -0.807 0.031 0.005 0.169 0.000 0.016 3.893 0.086 . . . 0.7546 0.8983 0.8427 0.8341 0.6769 0.6736 0.7540 0.7651 0.6640 0.7732 0.9003 0.8421 0.8245 0.6792 0.6768 0.7299 0.7281 hom 5848.98 197 14 51224374 . T G 5848.98 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.679;DP=197;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7046;MQ=59.22;MQ0=0;MQRankSum=-1.591;QD=29.69;ReadPosRankSum=-0.167;VQSLOD=8.2289;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,196:197:99:5848,472,0 14 51224658 51224658 T A exonic NIN synonymous SNV NIN:NM_020921:exon18:c.A3090T:p.S1030S,NIN:NM_182944:exon18:c.A3090T:p.S1030S,NIN:NM_182946:exon18:c.A3090T:p.S1030S 0.32 0.17 0.43 0.5 0.31 0.26 0.3248 0.1936 0.5121 0.5080 0.2984 0.3120 0.2991 0.2444 0.28 0.19 0.32 0.33 0.28 rs2073348 COSM3999282;COSM3999283;COSM3999281;COSM3999284 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) Likely benign not_specified RCV000117802.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3360 0.1903 0.5004 0.3605 0.5084 0.3086 0.3089 0.3208 0.2459 0.2960 0.1963 0.4511 0.3245 0.5180 0.3312 0.3106 0.3255 het 3107.99 210 14 51224658 . T A 3107.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.300;DP=210;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9305;MQ=59.42;MQ0=0;MQRankSum=-0.145;QD=14.80;ReadPosRankSum=0.170;VQSLOD=6.5812;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,109:210:99:3138,0,2977 14 51225132 51225132 G T exonic NIN synonymous SNV NIN:NM_020921:exon18:c.C2616A:p.A872A,NIN:NM_182944:exon18:c.C2616A:p.A872A,NIN:NM_182946:exon18:c.C2616A:p.A872A 0.39 0.3 0.47 0.51 0.36 0.34 0.3775 0.2940 0.5383 0.5120 0.3394 0.3635 0.3480 0.3203 0.34 0.29 0.37 0.32 0.29 rs2073349 COSM3999288;COSM3999285;COSM3999287;COSM3999286 1(haematopoietic_and_lymphoid_tissue) Likely benign not_specified RCV000117798.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3862 0.2935 0.5288 0.4142 0.5149 0.3468 0.3602 0.3708 0.3212 0.3583 0.2917 0.4964 0.3974 0.5248 0.3697 0.3667 0.3786 het 1008.66 72 14 51225132 . G T 1008.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.989;DP=72;Dels=0.00;FS=0.973;HRun=0;HaplotypeScore=1.7880;MQ=59.68;MQ0=0;MQRankSum=-0.396;QD=14.01;ReadPosRankSum=-0.136;VQSLOD=6.7191;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,39:72:99:1039,0,1016 14 51237701 51237701 A G exonic NIN synonymous SNV NIN:NM_016350:exon11:c.T1128C:p.V376V,NIN:NM_020921:exon11:c.T1128C:p.V376V,NIN:NM_182944:exon11:c.T1128C:p.V376V,NIN:NM_182946:exon11:c.T1128C:p.V376V 0.58 0.26 0.62 0.84 0.61 0.67 0.6207 0.2912 0.6989 0.8503 0.6663 0.6104 0.6095 0.6769 0.5 0.3 0.61 0.51 0.59 rs17793018 COSM3753994;COSM3753997;COSM3753995;COSM3753996 1(large_intestine) Likely benign not_specified RCV000117795.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6294 0.2873 0.6860 0.5247 0.8570 0.6756 0.6130 0.6024 0.6746 0.5651 0.2872 0.6611 0.5232 0.8744 0.6938 0.6522 0.6663 het 888.46 91 14 51237701 . A G 888.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.163;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9467;MQ=58.80;MQ0=0;MQRankSum=0.672;QD=9.76;ReadPosRankSum=-1.420;VQSLOD=5.7398;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,38:91:99:918,0,1327 14 51239067 51239067 C G exonic NIN synonymous SNV NIN:NM_016350:exon9:c.G933C:p.L311L,NIN:NM_020921:exon9:c.G933C:p.L311L,NIN:NM_182944:exon9:c.G933C:p.L311L,NIN:NM_182946:exon9:c.G933C:p.L311L 0.99 0.97 1. 1. 1. 1. 0.9973 0.9719 0.9990 1 1 0.9997 1 0.9999 0.99 0.97 1. 0.97 0.97 rs8020503 . . Likely benign not_specified RCV000117819.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9709 0.9986 0.9995 1 1 0.9998 0.9985 0.9999 0.9924 0.9735 1 1 1 1 0.9999 0.9980 hom 2814.23 106 14 51239067 . C G 2814.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.241;DP=106;Dels=0.00;FS=4.685;HRun=0;HaplotypeScore=6.4906;MQ=59.19;MQ0=0;MQRankSum=0.476;QD=26.55;ReadPosRankSum=1.126;VQSLOD=2.7097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,104:106:99:2847,237,0 14 51716188 51716188 T G exonic TMX1 synonymous SNV TMX1:NM_030755:exon6:c.T492G:p.T164T 0.68 0.65 0.73 0.63 0.75 0.66 0.7322 0.6488 0.7338 0.6763 0.7531 0.7742 0.7078 0.6331 0.74 0.66 0.77 0.79 0.74 rs7161242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7351 0.6468 0.7374 0.8049 0.6681 0.7484 0.7710 0.7370 0.6400 0.7206 0.6452 0.7181 0.7517 0.6884 0.7501 0.7580 0.7603 het 2650.94 189 14 51716188 . T G 2650.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.187;DP=189;Dels=0.00;FS=0.630;HRun=0;HaplotypeScore=5.8639;MQ=58.65;MQ0=0;MQRankSum=0.340;QD=14.03;ReadPosRankSum=-0.114;VQSLOD=5.2843;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,111:189:99:2681,0,2021 14 51716467 51716467 G A exonic TMX1 synonymous SNV TMX1:NM_030755:exon7:c.G648A:p.P216P 0.71 0.76 0.74 0.63 0.75 0.67 0.7430 0.7401 0.7373 0.6773 0.7560 0.7761 0.7122 0.6457 0.76 0.74 0.77 0.81 0.68 rs7160810 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7411 0.7367 0.7382 0.8038 0.6649 0.7503 0.7722 0.7376 0.65 0.7477 0.7322 0.7243 0.7550 0.6890 0.7529 0.7617 0.7668 het 1190.24 99 14 51716467 . G A 1190.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.018;DP=99;Dels=0.00;FS=4.091;HRun=0;HaplotypeScore=3.3879;MQ=58.77;MQ0=0;MQRankSum=-0.813;QD=12.02;ReadPosRankSum=1.205;VQSLOD=4.8906;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,53:99:99:1220,0,1145 14 52182081 52182081 T A exonic FRMD6 synonymous SNV FRMD6:NM_001267046:exon10:c.T888A:p.S296S,FRMD6:NM_152330:exon10:c.T864A:p.S288S,FRMD6:NM_001042481:exon11:c.T864A:p.S288S 0.67 0.69 0.69 0.63 0.72 0.62 0.6817 0.6862 0.6322 0.6418 0.7202 0.7058 0.6711 0.6218 0.7 0.69 0.71 0.64 0.73 rs731715 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6825 0.6888 0.6411 0.7254 0.6332 0.7274 0.7043 0.6875 0.6172 0.7089 0.6886 0.6435 0.6854 0.6675 0.7264 0.7247 0.7173 het 1203.38 90 14 52182081 . T A 1203.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.966;DP=90;Dels=0.00;FS=1.826;HRun=0;HaplotypeScore=1.8932;MQ=59.19;MQ0=0;MQRankSum=-0.621;QD=13.37;ReadPosRankSum=0.793;VQSLOD=6.2386;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,47:90:99:1233,0,1134 14 52478315 52478315 A G exonic NID2 synonymous SNV NID2:NM_007361:exon17:c.T3507C:p.A1169A 0.69 0.79 0.74 0.77 0.54 0.59 0.5942 0.7670 0.7658 0.7595 0.4946 0.5315 0.5672 0.5731 0.61 0.75 0.54 0.78 0.57 rs1051069 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6003 0.7679 0.7656 0.6253 0.7659 0.4921 0.5291 0.5921 0.5743 0.6028 0.7673 0.7518 0.6258 0.7497 0.4836 0.5164 0.5061 hom 7369.55 232 14 52478315 . A G 7369.55 Mask AC=2;AF=1.00;AN=2;DP=232;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7554;MQ=59.73;MQ0=0;QD=31.77;VQSLOD=8.2896;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,232:232:99:7368,608,0 14 52481917 52481917 C T exonic NID2 synonymous SNV NID2:NM_007361:exon15:c.G3105A:p.R1035R 0.46 0.5 0.52 0.71 0.24 0.32 0.3486 0.4844 0.5621 0.6972 0.1922 0.2661 0.3002 0.3272 0.34 0.47 0.27 0.52 0.25 rs946615 COSM433121 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3531 0.4792 0.5586 0.3193 0.6992 0.1982 0.2626 0.3210 0.3284 0.3400 0.4745 0.4928 0.34 0.6915 0.2086 0.2512 0.2653 het 944.19 84 14 52481917 . C T 944.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.528;DP=84;Dels=0.00;FS=2.880;HRun=0;HaplotypeScore=6.4362;MQ=58.62;MQ0=0;MQRankSum=1.236;QD=11.24;ReadPosRankSum=-0.068;VQSLOD=4.9647;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,39:84:99:974,0,1236 14 52496387 52496387 C A exonic NID2 nonsynonymous SNV NID2:NM_007361:exon10:c.G2279T:p.G760V 0.92 0.75 0.98 0.97 0.99 0.98 0.9742 0.7953 0.9858 0.9779 0.9994 0.9946 0.9868 0.9838 0.93 0.81 0.99 0.84 0.89 rs2273430 . . . . . . . . . . . . . 0.948 0.022 T 0.0 0.026 B 0.0 0.013 B 0.003 0.350 N 0.139 0.354 P -3.41 0.000 N -1.76 0.836 D 3.47 0.001 N 0.413 0.471 -0.903 0.477 T 0.000 0.000 T . . . 1.121 0.202 11.33 0.597 0.061 0.299 0.237 N c -0.966 -0.657 1.000 0.500 0.693 0.558 0 4.53 0.548 1.660 0.368 0.238 0.266 0.950 0.328 0.656 0.300 8.661 0.331 EGF-like domain . . 0.9774 0.7901 0.9841 0.9742 0.9761 0.9987 0.9957 0.9788 0.9833 0.9384 0.7958 0.9761 0.9735 0.9772 0.9977 0.9972 0.9868 hom 3233.06 107 14 52496387 . C A 3233.06 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9950;MQ=59.22;MQ0=0;QD=30.22;VQSLOD=9.1999;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3265,271,0 14 52496407 52496407 C T exonic NID2 synonymous SNV NID2:NM_007361:exon10:c.G2259A:p.E753E 0.87 0.7 0.93 0.97 0.91 0.93 0.9104 0.7488 0.9431 0.9776 0.9202 0.9144 0.9108 0.9339 0.86 0.76 0.91 0.8 0.73 rs2273431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9111 0.7411 0.9369 0.8143 0.9758 0.9211 0.9180 0.8953 0.9325 0.8775 0.7480 0.9141 0.8311 0.9772 0.9242 0.9267 0.9257 hom 2927 91 14 52496407 . C T 2927 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.75;MQ0=0;QD=32.16;VQSLOD=9.4147;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2960,232,0 14 52507429 52507429 A G exonic NID2 nonsynonymous SNV NID2:NM_007361:exon8:c.T1966C:p.S656P 0.86 0.92 0.79 0.85 0.79 0.9 0.8104 0.8919 0.8210 0.8404 0.8402 0.7689 0.8216 0.8910 0.81 0.89 0.77 0.88 0.74 rs3742536 COSM5001177 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.843 N 0.984 0.248 P -3.29 0.000 N 2.24 0.179 T 6.87 0.000 N 0.048 0.114 -0.969 0.375 T 0.000 0.000 T . . . 1.744 0.271 14.66 0.349 0.021 0.117 0.166 N c -0.848 -0.523 1.000 0.747 0.693 0.558 0 5.06 0.677 6.055 0.705 0.135 0.219 1.000 0.715 0.924 0.398 12.582 0.556 G2 nidogen/fibulin G2F|Green fluorescent protein|Green fluorescent protein-like . . 0.8070 0.8924 0.8061 0.7562 0.8402 0.8331 0.7669 0.8124 0.8886 0.8179 0.8889 0.8031 0.75 0.8578 0.8178 0.7752 0.8065 hom 6074.54 199 14 52507429 . A G 6074.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.454;DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.7622;MQ=58.76;MQ0=0;MQRankSum=1.715;QD=30.53;ReadPosRankSum=1.332;VQSLOD=6.4142;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,198:199:99:6046,436,0 14 52509501 52509501 T C exonic NID2 synonymous SNV NID2:NM_007361:exon6:c.A1578G:p.E526E 0.39 0.39 0.42 0.55 0.25 0.33 0.3088 0.3720 0.4781 0.5174 0.2688 0.2435 0.2991 0.3220 0.28 0.36 0.25 0.4 0.31 rs3818186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3173 0.3733 0.4713 0.3375 0.5180 0.2656 0.2395 0.3218 0.3209 0.2935 0.3658 0.4523 0.3311 0.5235 0.2659 0.2265 0.2469 het 1181.79 99 14 52509501 . T C 1181.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.130;DP=99;Dels=0.00;FS=5.268;HRun=2;HaplotypeScore=3.1610;MQ=58.59;MQ0=0;MQRankSum=0.564;QD=11.94;ReadPosRankSum=-0.011;VQSLOD=5.4235;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,48:99:99:1212,0,1514 14 52520368 52520368 C T exonic NID2 nonsynonymous SNV NID2:NM_007361:exon5:c.G1358A:p.G453D 0.57 0.45 0.56 0.44 0.75 0.69 0.6807 0.4808 0.5098 0.4797 0.7475 0.7576 0.6949 0.6933 0.67 0.5 0.75 0.5 0.69 rs2101919 COSM3754005 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.633 0.051 T 0.006 0.126 B 0.009 0.133 B 0.485 0.050 N 1 0.090 P 0.55 0.145 N -1.71 0.832 D -0.4 0.138 N 0.085 0.129 -1.012 0.263 T 0.000 0.000 T . . . -0.642 0.048 0.099 0.190 0.006 0.017 0.054 N c -1.485 -1.511 1.000 0.747 0.615 0.372 0 -5.03 0.027 -0.109 0.107 -0.420 0.060 0.000 0.063 0.001 0.043 10.746 0.452 . ENSG00000087303.12 Thyroid 0.6750 0.4793 0.5184 0.6563 0.4799 0.7497 0.7611 0.6712 0.6924 0.6678 0.4868 0.5324 0.6623 0.4759 0.7489 0.7776 0.7423 het 2293.67 168 14 52520368 . C T 2293.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.124;DP=168;DS;Dels=0.00;FS=3.052;HRun=0;HaplotypeScore=2.7077;MQ=59.48;MQ0=0;MQRankSum=-1.369;QD=13.65;ReadPosRankSum=-1.266;VQSLOD=5.5763;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,86:168:99:2324,0,2231 14 52520853 52520853 A G exonic NID2 synonymous SNV NID2:NM_007361:exon4:c.T954C:p.Y318Y 0.98 0.93 0.99 1. 1. 1. 0.9935 0.9293 0.9972 1 1 0.9998 0.9967 0.9999 0.98 0.93 1. 0.99 1. rs904059 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9950 0.9300 0.9968 1 1 1 0.9998 0.9965 0.9999 0.9786 0.9249 0.9964 1 1 1 0.9999 0.9969 hom 2245.29 67 14 52520853 . A G 2245.29 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=33.51;VQSLOD=9.6033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2278,187,0 14 52535648 52535648 G T exonic NID2 nonsynonymous SNV NID2:NM_007361:exon1:c.C65A:p.P22Q 0.8 0.46 0.87 1. 0.87 0.95 0.8594 0.5018 0.9139 0.9993 0.8699 0.8667 0.8571 0.9378 0.74 0.51 0.87 0.65 0.82 rs3920038 COSM4148128 1(thyroid) . . . . . . . . . . . 0.327 0.132 T 0.002 0.090 B 0.001 0.040 B 0.348 0.138 N 1 0.201 P -1.1 0.010 N 2.07 0.204 T 0.29 0.042 N 0.086 0.081 -1.036 0.186 T 0.000 0.000 T . . . 0.785 0.169 9.372 0.866 0.161 0.142 0.181 N c -1.122 -1.000 1.000 0.747 0.726 0.872 0 1.49 0.219 1.084 0.302 0.134 0.217 0.814 0.297 0.749 0.321 3.069 0.058 . . . 0.8642 0.4925 0.9048 0.7745 0.9996 0.8709 0.8693 0.8510 0.9366 0.7770 0.4941 0.8687 0.8013 1 0.8696 0.8824 0.8804 hom 2204.53 67 14 52535648 . G T 2204.53 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.39;MQ0=0;QD=32.90;VQSLOD=9.3363;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2238,178,0 14 52794007 52794007 A G exonic PTGER2 synonymous SNV PTGER2:NM_000956:exon2:c.A912G:p.L304L 0.018 0.0015 0.023 0.001 0.045 0.028 0.0324 0.0074 0.0188 0 0.0301 0.0410 0.0431 0.0399 0.032 0.0077 0.045 0.022 0.049 rs2229187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0329 0.0060 0.0188 0.1064 0.0001 0.0290 0.0375 0.0409 0.0415 0.0300 0.0066 0.0144 0.1133 0 0.0347 0.0454 0.0235 het 679.49 50 14 52794007 . A G 679.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.715;DP=50;Dels=0.00;FS=1.178;HRun=0;HaplotypeScore=0.9159;MQ=58.87;MQ0=0;MQRankSum=1.901;QD=13.59;ReadPosRankSum=0.466;VQSLOD=5.7818;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,25:50:99:709,0,629 14 52906081 52906081 T G exonic TXNDC16 synonymous SNV TXNDC16:NM_001160047:exon20:c.A2020C:p.R674R,TXNDC16:NM_020784:exon20:c.A2035C:p.R679R 0.59 0.7 0.44 0.71 0.4 0.61 0.4893 0.6869 0.5104 0.7065 0.4611 0.4178 0.4787 0.5344 0.5 0.68 0.41 0.67 0.46 rs2249922 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4816 0.6830 0.5018 0.3785 0.7049 0.4606 0.4143 0.4562 0.5300 0.5073 0.6713 0.5251 0.4033 0.6897 0.4353 0.4130 0.4632 het 489.22 43 14 52906081 . T G 489.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.483;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5275;MQ=58.54;MQ0=0;MQRankSum=1.004;QD=11.38;ReadPosRankSum=-0.561;VQSLOD=4.8544;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:21,20:43:99:519,0,548 14 52907353 52907353 C T exonic TXNDC16 synonymous SNV TXNDC16:NM_001160047:exon19:c.G1917A:p.Q639Q,TXNDC16:NM_020784:exon19:c.G1932A:p.Q644Q 0.54 0.51 0.43 0.71 0.4 0.61 0.4715 0.5186 0.5011 0.7039 0.4596 0.4151 0.4699 0.5310 0.45 0.52 0.41 0.62 0.43 rs1952254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4656 0.5125 0.4841 0.3771 0.7025 0.4601 0.4120 0.4458 0.5235 0.4621 0.5148 0.5132 0.4033 0.6880 0.4359 0.4118 0.4580 het 459.38 53 14 52907353 . C T 459.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.688;DP=53;Dels=0.00;FS=4.099;HRun=1;HaplotypeScore=1.7262;MQ=60.00;MQ0=0;MQRankSum=1.606;QD=8.67;ReadPosRankSum=-0.798;VQSLOD=4.9818;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,20:53:99:489,0,918 14 53098902 53098902 G A exonic GPR137C nonsynonymous SNV GPR137C:NM_001099652:exon4:c.G742A:p.V248I 0.41 0.25 0.53 0.42 0.56 0.4 0.4967 0.2805 0.5133 0.4392 0.5575 0.5351 0.4944 0.4642 0.45 0.29 0.53 0.33 . rs762063 COSM3754006 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.312 0.139 T 0.007 0.163 B 0.003 0.080 B 0.001 0.400 N 1 0.090 P 0.895 0.225 L 0.95 0.433 T -0.51 0.160 N 0.146 0.172 -0.931 0.440 T 0.000 0.000 T . . . 1.435 0.235 12.97 0.958 0.274 0.854 0.442 D c -0.284 -0.139 0.013 0.124 0.638 0.428 0 3.32 0.370 3.671 0.541 -0.248 0.090 0.998 0.411 0.614 0.291 7.554 0.268 . . . 0.5000 0.2778 0.5057 0.5859 0.4338 0.5477 0.5302 0.5256 0.4652 0.4606 0.2876 0.4686 0.5927 0.4347 0.5587 0.5343 0.5195 het 485.60 35 14 53098902 . G A 485.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.581;DP=35;Dels=0.00;FS=1.608;HRun=0;HaplotypeScore=0.5784;MQ=58.00;MQ0=0;MQRankSum=-1.898;QD=13.87;ReadPosRankSum=-0.908;VQSLOD=4.0158;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,17:35:99:516,0,428 14 53345378 53345378 G A exonic FERMT2 synonymous SNV FERMT2:NM_001134999:exon7:c.C885T:p.Y295Y,FERMT2:NM_001135000:exon7:c.C885T:p.Y295Y,FERMT2:NM_006832:exon7:c.C885T:p.Y295Y 0.72 0.42 0.82 0.73 0.9 0.85 0.8414 0.4795 0.8186 0.7448 0.8882 0.9031 0.8722 0.8662 0.76 0.49 0.91 0.66 0.88 rs2357947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8468 0.4735 0.8205 0.9454 0.7372 0.8842 0.8992 0.8832 0.8653 0.7668 0.4913 0.8067 0.9570 0.7519 0.8940 0.8879 0.8405 hom 3116.88 102 14 53345378 . G A 3116.88 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=58.91;MQ0=0;QD=30.56;VQSLOD=9.5205;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3150,247,0 14 53529669 53529669 A T exonic DDHD1 synonymous SNV DDHD1:NM_001160148:exon7:c.T1758A:p.T586T,DDHD1:NM_030637:exon7:c.T1758A:p.T586T,DDHD1:NM_001160147:exon8:c.T1779A:p.T593T 0.82 0.6 0.89 0.98 0.84 0.87 0.8471 0.6289 0.8972 0.9770 0.8975 0.8431 0.8554 0.8768 0.77 0.63 0.84 0.9 0.81 rs4898778 . . Benign not_specified RCV000434061.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8515 0.6234 0.8916 0.7879 0.9757 0.8965 0.8424 0.8366 0.8749 0.8024 0.6175 0.8732 0.7980 0.9734 0.8970 0.8599 0.8863 hom 2868.39 86 14 53529669 . A T 2868.39 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.35;VQSLOD=14.5465;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2901,229,0 14 53619463 53619463 G A exonic DDHD1 synonymous SNV DDHD1:NM_001160147:exon1:c.C354T:p.H118H,DDHD1:NM_001160148:exon1:c.C354T:p.H118H,DDHD1:NM_030637:exon1:c.C354T:p.H118H 0.75 0.38 0.85 0.97 0.83 0.88 0.8455 0.4682 0.8972 0.9754 0.8920 0.8479 0.8485 0.8830 . . . 0.17 0.28 rs2358188 COSM3754008;COSM3754007 2(thyroid);1(upper_aerodigestive_tract);1(large_intestine) Benign not_specified RCV000421659.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8439 0.4456 0.8813 0.7908 0.9727 0.8893 0.8439 0.8263 0.8806 0.7490 0.4338 0.8599 0.7967 0.9696 0.8923 0.8585 0.8714 hom 525.23 19 14 53619463 . G A 525.23 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.86;MQ0=0;QD=27.64;VQSLOD=7.2450;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:48.14:558,48,0 14 53619480 53619480 - GCCGCC exonic DDHD1 nonframeshift insertion DDHD1:NM_001160147:exon1:c.336_337insGGCGGC:p.G112_S113insGG,DDHD1:NM_001160148:exon1:c.336_337insGGCGGC:p.G112_S113insGG,DDHD1:NM_030637:exon1:c.336_337insGGCGGC:p.G112_S113insGG 0.79 0.5 0.87 0.97 0.83 0.88 0.8421 0.5331 0.8994 0.9659 0.8328 0.8403 0.8300 0.8812 . . . 0.043 . rs55671452 COSM956281;COSM1370127 1(haematopoietic_and_lymphoid_tissue);2(large_intestine);1(central_nervous_system);2(endometrium) Benign Spastic_paraplegia_28\x2c_autosomal_recessive RCV000206319.3 MedGen:OMIM:Orphanet C1836295:609340:ORPHA101008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8340 0.5045 0.8780 0.7783 0.9610 0.8189 0.8363 0.8160 0.8733 0.7601 0.5222 0.8570 0.7973 0.9589 0.8240 0.8496 0.8593 hom 537.21 12 14 53619480 . T TGCCGCC 537.21 Mask AC=2;AF=1.00;AN=2;DP=12;FS=0.000;HRun=0;HaplotypeScore=95.3546;MQ=48.71;MQ0=0;QD=44.77;set=variant2 GT:AD:DP:GQ:PL 1/1:4,7:12:24.13:579,24,0 14 53619500 53619500 C G exonic DDHD1 nonsynonymous SNV DDHD1:NM_001160147:exon1:c.G317C:p.G106A,DDHD1:NM_001160148:exon1:c.G317C:p.G106A,DDHD1:NM_030637:exon1:c.G317C:p.G106A 0.072 0.031 0.14 0.12 0.032 0.069 0.0649 0.0351 0.1987 0.1255 0.0576 0.0351 0.0580 0.0707 0.027 0.021 0.031 . 0.025 rs117525276 . . Benign not_specified RCV000444106.1 MedGen CN169374 . . . . . . 0.025 0.473 D 1.0 0.899 D 0.996 0.832 D 0.432 0.127 N 0.694 0.301 P 1.39 0.351 L . . . -0.34 0.127 N 0.065 0.051 -1.080 0.074 T 0.002 0.007 T . . . 0.774 0.168 9.301 0.991 0.526 0.728 0.354 D c 0.182 0.199 1.000 0.747 0.437 0.062 0 3.77 0.423 1.085 0.302 0.763 0.310 0.966 0.337 0.989 0.536 10.758 0.453 . . . 0.0662 0.0288 0.1817 0.0437 0.1147 0.0536 0.0304 0.0573 0.0698 0.0428 0.0276 0.1451 0.0331 0.1026 0.0579 0.0350 0.0593 het 84.35 12 14 53619500 . C G 84.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.599;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.82;MQ0=0;MQRankSum=1.835;QD=7.03;ReadPosRankSum=-0.289;VQSLOD=4.5229;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,4:12:99:114,0,237 14 53619544 53619544 G A exonic DDHD1 synonymous SNV DDHD1:NM_001160147:exon1:c.C273T:p.F91F,DDHD1:NM_001160148:exon1:c.C273T:p.F91F,DDHD1:NM_030637:exon1:c.C273T:p.F91F 0.75 0.37 0.85 0.97 0.83 0.88 0.8326 0.4451 0.8901 0.9739 0.8880 0.8429 0.8403 0.8811 0.7 0.44 0.84 0.5 0.72 rs2358189 COSM4148135;COSM4148134 2(thyroid) Benign not_specified RCV000431596.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8369 0.4263 0.8810 0.7879 0.9725 0.8874 0.8413 0.8230 0.8796 0.7469 0.4285 0.8606 0.7980 0.9702 0.8920 0.8578 0.8685 hom 616.48 20 14 53619544 . G A 616.48 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.02;MQ0=0;QD=30.82;VQSLOD=8.6587;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:54.16:649,54,0 14 54417522 54417522 A G exonic BMP4 nonsynonymous SNV BMP4:NM_001347914:exon3:c.T455C:p.V152A,BMP4:NM_001347915:exon3:c.T266C:p.V89A,BMP4:NM_001202:exon4:c.T455C:p.V152A,BMP4:NM_001347912:exon4:c.T596C:p.V199A,BMP4:NM_001347913:exon4:c.T266C:p.V89A,BMP4:NM_001347916:exon4:c.T455C:p.V152A,BMP4:NM_001347917:exon4:c.T266C:p.V89A,BMP4:NM_130850:exon4:c.T455C:p.V152A,BMP4:NM_130851:exon4:c.T455C:p.V152A 0.33 0.18 0.36 0.29 0.55 0.3 0.4570 0.2531 0.2743 0.2717 0.6213 0.5569 0.4678 0.3375 0.45 0.26 0.55 0.32 0.57 rs17563 COSM3754009 1(large_intestine) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|BMP4-Related_Syndromic_Microphthalmia|Syndromic_Microphthalmia\x2c_Dominant|Cleft_Lip_+/-_Cleft_Palate\x2c_Autosomal_Dominant|Orofacial_cleft RCV000178157.2|RCV000274304.1|RCV000309331.1|RCV000366338.1|RCV000405370.1 MedGen|MedGen|MedGen|MedGen|MedGen CN169374|CN239242|CN239443|CN239161|C3266076 Primary tooth development (time to first tooth eruption) . .24 23704328 rs17563 9E-17 0.4 0.290 T 0.002 0.090 B 0.007 0.121 B 0.000 0.559 N 0.001 0.453 P 1.2 0.304 L -0.08 0.639 T -0.71 0.247 N 0.034 0.214 -0.920 0.455 T 0.000 0.000 T . . . 0.779 0.168 9.335 0.901 0.188 0.937 0.587 D c -0.138 0.020 1.000 0.747 0.677 0.550 0 4.05 0.462 5.226 0.649 1.088 0.866 1.000 0.715 1.000 0.888 9.132 0.358 Transforming growth factor-beta\x2c N-terminal ENSG00000125378.11|ENSG00000125378.11 Brain_Cerebellar_Hemisphere|Brain_Cerebellum 0.4541 0.2453 0.2854 0.4799 0.2680 0.6164 0.5601 0.4699 0.3388 0.4653 0.2495 0.3126 0.4768 0.2435 0.6188 0.5830 0.5307 het 1381.81 95 14 54417522 . A G 1381.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.167;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5692;MQ=59.34;MQ0=0;MQRankSum=-1.251;QD=14.55;ReadPosRankSum=-0.237;VQSLOD=5.3001;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,54:95:99:1412,0,1047 14 55448409 55448409 G C exonic WDHD1 nonsynonymous SNV WDHD1:NM_001008396:exon15:c.C1543G:p.P515A,WDHD1:NM_007086:exon16:c.C1912G:p.P638A 0.029 0.0023 0.036 . 0.11 0.0041 0.0670 0.0139 0.0240 0 0.1543 0.0958 0.0738 0.0141 0.071 0.018 0.097 0.022 0.066 rs61741224 COSM3754010 1(large_intestine) . . . . . . . . . . . 0.025 0.546 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 0.000 0.588 P 3.05 0.870 M -0.34 0.732 T -6.88 0.932 D 0.397 0.772 -0.671 0.618 T 0.041 0.177 T . . . 5.444 0.739 26.1 0.997 0.775 0.970 0.721 D c 0.877 0.831 1.000 0.747 0.744 0.983 0 5.71 0.890 7.811 0.845 0.902 0.416 1.000 0.715 0.981 0.494 19.928 0.971 Minichromosome loss protein Mcl1\x2c middle region . . 0.0694 0.0134 0.0304 0.0427 5.83e-05 0.1522 0.1000 0.0720 0.0141 0.0903 0.0169 0.0526 0.0430 0 0.1567 0.1304 0.0906 het 691.78 76 14 55448409 . G C 691.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.395;DP=76;Dels=0.00;FS=2.062;HRun=0;HaplotypeScore=2.8829;MQ=59.51;MQ0=0;MQRankSum=1.249;QD=9.10;ReadPosRankSum=0.169;VQSLOD=5.9048;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,32:76:99:722,0,1067 14 55605036 55605036 A C exonic LGALS3 nonsynonymous SNV LGALS3:NM_001177388:exon3:c.A292C:p.T98P,LGALS3:NM_002306:exon3:c.A292C:p.T98P 0.57 0.95 0.39 0.41 0.44 0.48 0.4558 0.8672 0.2922 0.3979 0.5295 0.4252 0.4667 0.4689 0.59 0.86 0.47 0.63 0.34 rs4652 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.428 N 1.000 0.189 P -1.88 0.002 N 3.88 0.070 T 4.12 0.001 N 0.05 0.037 -0.980 0.350 T 0.000 0.000 T . . . -0.182 0.077 1.197 0.692 0.086 0.004 0.021 N c -1.171 -1.034 1.000 0.747 0.719 0.830 0 3.29 0.366 1.139 0.309 0.014 0.141 0.052 0.213 0.019 0.132 8.468 0.320 . ENSG00000131981.11|ENSG00000131981.11|ENSG00000126775.8|ENSG00000258413.1|ENSG00000258413.1|ENSG00000131981.11|ENSG00000126775.8|ENSG00000258413.1|ENSG00000126775.8|ENSG00000258413.1|ENSG00000126775.8|ENSG00000131981.11|ENSG00000126775.8|ENSG00000258413.1|ENSG00000126775.8|ENSG00000178974.5|ENSG00000258413.1 Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid 0.4465 0.8779 0.3057 0.3704 0.3889 0.5259 0.4272 0.4263 0.4700 0.5684 0.8716 0.3592 0.3567 0.3772 0.5232 0.4453 0.4693 het 256.70 17 14 55605036 . A C 256.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.010;DP=17;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7843;MQ=60.00;MQ0=0;MQRankSum=-0.048;QD=15.10;ReadPosRankSum=0.914;VQSLOD=5.7050;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:287,0,241 14 55618524 55618524 C G exonic DLGAP5 nonsynonymous SNV DLGAP5:NM_001146015:exon17:c.G2257C:p.E753Q,DLGAP5:NM_014750:exon17:c.G2257C:p.E753Q 0.013 0.026 0.0086 . 0.0089 0.016 0.0101 0.0214 0.0040 0 0.0015 0.0093 0.0121 0.0192 0.013 0.02 0.01 . 0.016 rs35954941 . . . . . . . . . . . . . 0.023 0.481 D 0.996 0.670 D 0.852 0.590 P 0.002 0.008 N 0.999 0.215 N 2.42 0.702 M 1.47 0.320 T -0.98 0.260 N 0.031 0.012 -0.997 0.306 T 0.047 0.203 T . . . 3.952 0.532 23.6 0.994 0.621 0.837 0.425 D c -0.006 -0.100 1.000 0.416 0.732 0.924 0 2.58 0.299 1.150 0.310 -0.022 0.129 0.996 0.391 0.080 0.181 10.505 0.438 . . . 0.0099 0.0218 0.0050 0.0423 0 0.0009 0.0078 0.0111 0.0189 0.0101 0.0227 0.0048 0.0265 0 0.0006 0.0066 0.0031 het 1618.37 115 14 55618524 . C G 1618.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.761;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6482;MQ=58.46;MQ0=0;MQRankSum=-0.739;QD=14.07;ReadPosRankSum=0.009;VQSLOD=4.4800;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,65:115:99:1648,0,1311 14 55818275 55818275 A G exonic FBXO34 synonymous SNV FBXO34:NM_017943:exon2:c.A1167G:p.L389L,FBXO34:NM_152231:exon2:c.A1167G:p.L389L 0.013 0.025 0.0086 . 0.008 0.016 0.0101 0.0186 0.0046 0 0.0015 0.0094 0.0143 0.0202 0.013 0.018 0.01 . 0.016 rs35342573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0099 0.0185 0.0052 0.0424 0 0.0009 0.0079 0.0122 0.0195 0.0092 0.0192 0.0048 0.0265 0 0.0006 0.0066 0.0031 het 2832.12 190 14 55818275 . A G 2832.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.331;DP=190;Dels=0.00;FS=1.802;HRun=1;HaplotypeScore=4.8138;MQ=59.56;MQ0=0;MQRankSum=-0.137;QD=14.91;ReadPosRankSum=-0.327;VQSLOD=5.2358;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:91,99:190:99:2862,0,2365 14 55818517 55818517 T A exonic FBXO34 nonsynonymous SNV FBXO34:NM_017943:exon2:c.T1409A:p.I470N,FBXO34:NM_152231:exon2:c.T1409A:p.I470N 0.33 0.23 0.31 0.32 0.42 0.4 0.3836 0.2592 0.2562 0.3231 0.5295 0.4104 0.4163 0.4146 0.37 0.26 0.42 0.36 0.43 rs1045002 COSM147784 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 0.542 0.067 T 0.001 0.067 B 0.008 0.127 B 0.413 0.046 N 1 0.090 P 0 0.065 N 2.34 0.164 T 0.72 0.021 N 0.054 0.036 -0.906 0.473 T 0.000 0.000 T . . . -1.651 0.014 0.002 0.343 0.021 0.031 0.079 N c -1.618 -1.585 0.770 0.236 0.707 0.730 0 -0.84 0.102 -0.336 0.078 -1.558 0.009 0.000 0.063 0.000 0.016 4.902 0.130 . ENSG00000131981.11|ENSG00000131981.11|ENSG00000126775.8|ENSG00000258413.1|ENSG00000258413.1|ENSG00000258413.1|ENSG00000258413.1|ENSG00000126775.8|ENSG00000258413.1|ENSG00000126775.8|ENSG00000258413.1|ENSG00000126775.8|ENSG00000131981.11|ENSG00000126775.8|ENSG00000126775.8|ENSG00000258413.1|ENSG00000126775.8|ENSG00000178974.5 Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid 0.3845 0.2605 0.2661 0.3048 0.3178 0.5248 0.4178 0.3825 0.4165 0.3889 0.2702 0.3138 0.2848 0.2981 0.5238 0.4401 0.4306 het 1234.98 120 14 55818517 . T A 1234.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.202;DP=120;Dels=0.00;FS=0.720;HRun=1;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;MQRankSum=-0.573;QD=10.29;ReadPosRankSum=0.902;VQSLOD=6.0133;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,50:120:99:1265,0,1751 14 55818706 55818706 T C exonic FBXO34 nonsynonymous SNV FBXO34:NM_017943:exon2:c.T1598C:p.L533P,FBXO34:NM_152231:exon2:c.T1598C:p.L533P 0.4 0.47 0.33 0.32 0.42 0.4 0.4020 0.4580 0.2664 0.3234 0.5296 0.4108 0.4251 0.4148 0.43 0.45 0.42 0.41 0.4 rs3742569 COSM147785 1(stomach);3(prostate) . . . . . . . . . . . 0.129 0.268 T 0.0 0.026 B 0.0 0.013 B 0.444 0.126 N 1 0.090 P -0.37 0.031 N 2.1 0.200 T 0.22 0.047 N 0.05 0.031 -0.926 0.448 T 0.000 0.000 T . . . -1.298 0.022 0.005 0.604 0.063 0.024 0.067 N c -1.519 -1.473 0.708 0.228 0.732 0.924 0 -1.35 0.086 -0.687 0.052 -0.326 0.075 0.000 0.063 0.000 0.016 11.688 0.506 . ENSG00000131981.11|ENSG00000126775.8|ENSG00000258413.1|ENSG00000258413.1|ENSG00000258413.1|ENSG00000126775.8|ENSG00000258413.1|ENSG00000126775.8|ENSG00000258413.1|ENSG00000126775.8|ENSG00000131981.11|ENSG00000126775.8|ENSG00000126775.8|ENSG00000258413.1|ENSG00000126775.8|ENSG00000178974.5 Artery_Aorta|Artery_Tibial|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid 0.3989 0.4605 0.2762 0.3078 0.3179 0.5249 0.4182 0.3911 0.4168 0.4446 0.4658 0.3305 0.2881 0.2966 0.5235 0.4397 0.4386 het 3103.35 239 14 55818706 . T C 3103.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.944;DP=239;Dels=0.00;FS=8.189;HRun=1;HaplotypeScore=5.5662;MQ=59.06;MQ0=0;MQRankSum=-0.328;QD=12.98;ReadPosRankSum=-0.605;VQSLOD=4.6651;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,128:239:99:3133,0,2705 14 55907172 55907172 C G exonic TBPL2 nonsynonymous SNV TBPL2:NM_199047:exon1:c.G92C:p.R31P 0.68 0.81 0.73 0.63 0.6 0.63 0.6334 0.7921 0.7855 0.6585 0.5607 0.5884 0.6068 0.6269 0.65 0.78 0.58 0.71 0.54 rs8019270 COSM433153 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.164 0.233 T 0.0 0.026 B 0.0 0.013 B 0.683 0.061 N 1 0.090 P -1.59 0.004 N 0.9 0.453 T 0.41 0.034 N 0.009 0.001 -0.987 0.335 T 0.000 0.000 T . . . 0.011 0.095 2.695 0.465 0.037 0.001 0.004 N c -1.751 -1.813 0.999 0.393 0.526 0.212 0 -3.98 0.038 -0.225 0.091 -2.864 0.002 0.000 0.063 0.000 0.016 6.045 0.189 . . . 0.6312 0.7893 0.7634 0.6350 0.6542 0.5618 0.5814 0.6217 0.6263 0.6458 0.7824 0.7344 0.6291 0.6947 0.5768 0.5765 0.5823 hom 2429.47 76 14 55907172 . C G 2429.47 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4721;MQ=59.01;MQ0=0;QD=31.97;VQSLOD=9.1274;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2462,205,0 14 56096731 56096731 A G exonic KTN1 synonymous SNV KTN1:NM_001079521:exon7:c.A1137G:p.R379R,KTN1:NM_004986:exon7:c.A1137G:p.R379R,KTN1:NM_001079522:exon8:c.A1137G:p.R379R,KTN1:NM_001271014:exon8:c.A1137G:p.R379R 0.061 0.048 0.072 0.016 0.063 0.11 0.0773 0.0567 0.0479 0.0107 0.0448 0.0912 0.0826 0.1025 0.085 0.06 0.098 0.033 0.025 rs2274075 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0755 0.0586 0.0538 0.0640 0.0102 0.0463 0.0940 0.0721 0.1030 0.0665 0.0614 0.0501 0.0629 0.0142 0.0450 0.0806 0.0733 het 1580.62 148 14 56096731 . A G 1580.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.890;DP=148;Dels=0.00;FS=2.074;HRun=1;HaplotypeScore=7.7475;MQ=58.04;MQ0=0;MQRankSum=-0.172;QD=10.68;ReadPosRankSum=-0.254;VQSLOD=4.1259;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:84,64:148:99:1611,0,2150 14 56146357 56146357 G A exonic KTN1 synonymous SNV KTN1:NM_004986:exon41:c.G3852A:p.A1284A,KTN1:NM_001079522:exon42:c.G3870A:p.A1290A,KTN1:NM_001079521:exon43:c.G4023A:p.A1341A,KTN1:NM_001271014:exon43:c.G3939A:p.A1313A 0.062 0.053 0.075 0.016 0.063 0.11 0.0775 0.0594 0.0482 0.0107 0.0448 0.0911 0.0826 0.1024 0.086 0.063 0.098 0.033 0.033 rs11546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0758 0.0619 0.0540 0.0643 0.0104 0.0463 0.0941 0.0715 0.1030 0.0674 0.0645 0.0501 0.0629 0.0142 0.0450 0.0808 0.0726 het 2468.03 207 14 56146357 . G A 2468.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.997;DP=207;Dels=0.00;FS=3.326;HRun=0;HaplotypeScore=4.8349;MQ=58.69;MQ0=0;MQRankSum=1.492;QD=11.92;ReadPosRankSum=-1.690;VQSLOD=4.4452;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:115,91:207:99:2498,0,2874 14 57072338 57072338 C T exonic TMEM260 synonymous SNV TMEM260:NM_017799:exon5:c.C573T:p.H191H 0.13 0.25 0.059 0.18 0.04 0.053 0.0761 0.2381 0.0687 0.1497 0.0505 0.0496 0.0628 0.0589 0.11 0.23 0.049 0.2 0.049 rs3737170 COSM4417654 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0682 0.2245 0.0606 0.0991 0.1354 0.0494 0.0448 0.0607 0.0542 0.1093 0.2492 0.0860 0.12 0.1509 0.0444 0.0426 0.0605 het 1083.03 124 14 57072338 . C T 1083.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.931;DP=124;Dels=0.00;FS=3.294;HRun=0;HaplotypeScore=1.9979;MQ=58.22;MQ0=0;MQRankSum=-0.193;QD=8.73;ReadPosRankSum=0.757;VQSLOD=5.1080;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,51:124:99:1113,0,1730 14 57075920 57075920 G T exonic TMEM260 nonsynonymous SNV TMEM260:NM_017799:exon6:c.G733T:p.A245S 0.11 0.13 0.098 0.004 0.15 0.15 0.1181 0.1275 0.0689 0.0021 0.1888 0.1269 0.1256 0.1437 0.13 0.12 0.13 0.12 0.22 rs17776256 . . . . . . . . . . . . . 0.01 0.564 D 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 0.000 0.810 P 2.56 0.750 M 1.47 0.449 T -1.51 0.368 N 0.296 0.451 -1.210 0.001 T 0.002 0.007 T . . . 5.704 0.778 26.8 0.997 0.793 0.996 0.981 D c 0.843 0.825 1.0 0.983 0.706 0.609 0 6.06 0.983 9.889 0.986 1.048 0.713 1.000 0.715 0.651 0.299 20.640 0.995 . . . 0.1178 0.1280 0.0678 0.1533 0.0019 0.1897 0.1247 0.1322 0.1410 0.1302 0.1290 0.0847 0.1467 0.0025 0.1906 0.1318 0.1466 het 2228.72 205 14 57075920 . G T 2228.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.977;DP=205;DS;Dels=0.00;FS=2.106;HRun=0;HaplotypeScore=7.4706;MQ=59.46;MQ0=0;MQRankSum=-0.397;QD=10.87;ReadPosRankSum=1.022;VQSLOD=4.4470;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,86:205:99:2259,0,3301 14 57099859 57099859 G A exonic TMEM260 nonsynonymous SNV TMEM260:NM_017799:exon13:c.G1694A:p.S565N 0.7 0.77 0.63 0.66 0.71 0.71 0.7174 0.7633 0.6238 0.6410 0.7035 0.7425 0.7159 0.6986 0.75 0.77 0.73 0.7 0.61 rs1041316 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.354 N 1 0.090 P -2.005 0.002 N 1.57 0.293 T 1.38 0.009 N 0.009 0.013 -0.975 0.362 T 0.000 0.000 T . . . -1.091 0.029 0.010 0.547 0.051 0.009 0.034 N c -1.489 -1.341 0.004 0.105 0.651 0.465 0 1.69 0.232 1.227 0.320 -0.296 0.082 0.130 0.231 0.548 0.279 4.075 0.093 . ENSG00000070269.9 Thyroid 0.7118 0.7597 0.6364 0.7409 0.6440 0.7045 0.7406 0.7054 0.7009 0.7354 0.7669 0.6531 0.7715 0.6557 0.7023 0.7389 0.7082 het 1085.50 101 14 57099859 . G A 1085.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.723;DP=101;Dels=0.00;FS=3.784;HRun=5;HaplotypeScore=0.9332;MQ=58.59;MQ0=0;MQRankSum=-0.304;QD=10.75;ReadPosRankSum=0.482;VQSLOD=5.8107;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1115,0,1457 14 57676330 57676330 G T exonic EXOC5 synonymous SNV EXOC5:NM_006544:exon17:c.C1893A:p.A631A 0.28 0.84 0.099 0.088 0.058 0.065 0.1180 0.7217 0.0657 0.0929 0.0241 0.0581 0.0872 0.0859 0.25 0.67 0.058 0.41 . rs1804820 COSM3754012 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1054 0.7237 0.0659 0.0870 0.0976 0.0272 0.0578 0.0864 0.0840 0.2374 0.7091 0.0766 0.1159 0.1019 0.0279 0.0501 0.0592 het 935.93 72 14 57676330 . G T 935.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.344;DP=72;Dels=0.00;FS=1.951;HRun=1;HaplotypeScore=0.9159;MQ=58.39;MQ0=0;MQRankSum=0.479;QD=13.00;ReadPosRankSum=-0.118;VQSLOD=5.6992;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,38:72:99:966,0,840 14 57741550 57741550 A G exonic AP5M1 synonymous SNV AP5M1:NM_018229:exon2:c.A663G:p.Q221Q 0.27 0.83 0.088 0.066 0.057 0.082 0.1134 0.7109 0.0619 0.0550 0.0234 0.0555 0.0843 0.0948 0.26 0.65 0.057 0.41 0.11 rs1189899 COSM4148140 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1023 0.7121 0.0646 0.0842 0.0599 0.0271 0.0562 0.0857 0.0950 0.2308 0.6968 0.0788 0.1060 0.0558 0.0278 0.0483 0.0611 het 2031.94 153 14 57741550 . A G 2031.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.570;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8203;MQ=59.13;MQ0=0;MQRankSum=0.177;QD=13.28;ReadPosRankSum=0.020;VQSLOD=6.3307;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,76:153:99:2062,0,1948 14 57938124 57938124 C T exonic C14orf105 synonymous SNV C14orf105:NM_001283057:exon6:c.G837A:p.R279R,C14orf105:NM_001283058:exon6:c.G573A:p.R191R,C14orf105:NM_001283059:exon6:c.G573A:p.R191R,C14orf105:NM_018168:exon6:c.G840A:p.R280R,C14orf105:NM_001283056:exon7:c.G960A:p.R320R 0.67 0.17 0.76 0.96 0.74 0.89 0.7298 0.2531 0.7667 0.9547 0.7110 0.7389 0.7698 0.8549 0.58 0.26 0.74 0.54 0.74 rs1152531 COSM3754014 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7389 0.2503 0.7621 0.7659 0.9557 0.7106 0.7368 0.7431 0.8533 0.6069 0.2666 0.7572 0.7682 0.9523 0.7063 0.7259 0.7092 hom 2516.73 82 14 57938124 . C T 2516.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.690;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5774;MQ=57.64;MQ0=0;MQRankSum=0.718;QD=30.69;ReadPosRankSum=0.760;VQSLOD=8.0341;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,81:82:99:2550,199,0 14 57938260 57938260 T C exonic C14orf105 nonsynonymous SNV C14orf105:NM_001283057:exon6:c.A701G:p.Y234C,C14orf105:NM_001283058:exon6:c.A437G:p.Y146C,C14orf105:NM_001283059:exon6:c.A437G:p.Y146C,C14orf105:NM_018168:exon6:c.A704G:p.Y235C,C14orf105:NM_001283056:exon7:c.A824G:p.Y275C 0.89 0.61 0.97 1. 1. 1. 0.9696 0.6677 0.9860 0.9999 1 0.9992 0.9900 0.9997 0.89 0.67 1. 0.64 0.85 rs1152530 . . . . . . . . . . . . . 0.206 0.205 T 0.001 0.202 B 0.003 0.203 B 0.977 0.078 N 1 0.090 P 1.12 0.289 L 0.67 0.522 T -4.05 0.745 D 0.225 0.276 -1.007 0.279 T 0.000 0.000 T . . . -0.077 0.087 1.910 0.233 0.010 0.051 0.108 N c -0.939 -0.942 0.000 0.058 0.554 0.246 0 2.12 0.262 -0.089 0.111 0.105 0.201 0.000 0.063 0.041 0.157 3.858 0.084 . . . 0.9764 0.6692 0.9838 0.9969 1 1 0.9993 0.9872 0.9994 0.9084 0.6797 0.9796 1 1 1 0.9990 0.9847 hom 902.30 27 14 57938260 . T C 902.30 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.39;MQ0=0;QD=33.42;VQSLOD=8.2743;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:72.23:935,72,0 14 58598357 58598357 C T exonic C14orf37 synonymous SNV C14orf37:NM_001001872:exon4:c.G1704A:p.V568V,C14orf37:NM_001320173:exon4:c.G1704A:p.V568V 0.011 0.003 0.01 . 0.041 0.0041 0.0233 0.0059 0.0141 0.0001 0.0366 0.0332 0.0198 0.0073 0.022 0.0073 0.029 0.011 0.025 rs45465593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0227 0.0056 0.0109 0.0054 5.798e-05 0.0374 0.0348 0.0268 0.0073 0.0228 0.0058 0.0120 0.0033 0 0.0358 0.0326 0.0286 het 1018.65 89 14 58598357 . C T 1018.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.796;DP=89;Dels=0.00;FS=0.938;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=0.911;QD=11.45;ReadPosRankSum=0.680;VQSLOD=5.6654;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,40:89:99:1049,0,1507 14 58605790 58605790 G A exonic C14orf37 nonsynonymous SNV C14orf37:NM_001001872:exon2:c.C287T:p.T96I,C14orf37:NM_001320173:exon2:c.C287T:p.T96I 0.34 0.22 0.34 0.29 0.51 0.38 0.4413 0.2565 0.2996 0.2770 0.4432 0.5349 0.4835 0.3615 0.45 0.27 0.54 0.41 0.51 rs3829765 COSM3754018 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 0.944 0.512 P 0.714 0.528 P 0.219 0.162 N 1 0.090 P 1.845 0.488 L 1.97 0.221 T -3.22 0.649 D 0.087 0.120 -0.917 0.460 T 0.000 0.000 T . . . 3.577 0.487 23.2 0.995 0.708 0.101 0.155 N c -0.141 -0.261 1.000 0.747 0.706 0.609 0 4.91 0.638 0.669 0.246 0.077 0.185 0.003 0.159 0.016 0.126 8.077 0.297 . ENSG00000259969.1|ENSG00000139971.11|ENSG00000139971.11|ENSG00000259969.1|ENSG00000139971.11|ENSG00000139971.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.4412 0.2562 0.3125 0.5776 0.2739 0.4421 0.5387 0.4767 0.3631 0.4096 0.2538 0.3473 0.5695 0.2766 0.4353 0.5056 0.4599 hom 4827.02 153 14 58605790 . G A 4827.02 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9243;MQ=59.85;MQ0=0;QD=31.55;VQSLOD=8.9566;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4826,400,0 14 58838668 58838668 A G exonic ARID4A synonymous SNV ARID4A:NM_023001:exon23:c.A3528G:p.S1176S,ARID4A:NM_002892:exon24:c.A3735G:p.S1245S,ARID4A:NM_023000:exon24:c.A3573G:p.S1191S 0.54 0.38 0.69 0.48 0.59 0.66 0.5777 0.4012 0.6605 0.4783 0.5482 0.5909 0.5859 0.6413 0.53 0.41 0.59 0.56 0.49 rs1051860 COSM5424521;COSM5424522 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5833 0.3950 0.6594 0.5796 0.4844 0.5460 0.5935 0.6032 0.6369 0.5370 0.4099 0.6571 0.5767 0.5118 0.5490 0.6001 0.5849 hom 1832.73 65 14 58838668 . A G 1832.73 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=59.71;MQ0=0;QD=28.20;VQSLOD=7.4676;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1866,144,0 14 58838701 58838701 C T exonic ARID4A synonymous SNV ARID4A:NM_023001:exon23:c.C3561T:p.C1187C,ARID4A:NM_002892:exon24:c.C3768T:p.C1256C,ARID4A:NM_023000:exon24:c.C3606T:p.C1202C 0.53 0.36 0.68 0.48 0.59 0.66 0.5737 0.3804 0.6542 0.4746 0.5448 0.5891 0.5833 0.6419 0.52 0.39 0.59 0.54 0.44 rs1051861 COSM5424520;COSM5424519 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5795 0.3713 0.6559 0.5778 0.4832 0.5446 0.5908 0.6008 0.6360 0.5304 0.3867 0.6567 0.5767 0.5137 0.5490 0.5999 0.5850 hom 1348.28 44 14 58838701 . C T 1348.28 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=30.64;VQSLOD=9.4949;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1381,111,0 14 58917454 58917454 G A exonic KIAA0586 synonymous SNV KIAA0586:NM_001244193:exon5:c.G699A:p.S233S,KIAA0586:NM_001244191:exon8:c.G864A:p.S288S,KIAA0586:NM_001329943:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329944:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329945:exon8:c.G864A:p.S288S,KIAA0586:NM_001329946:exon8:c.G1119A:p.S373S,KIAA0586:NM_001329947:exon8:c.G1119A:p.S373S,KIAA0586:NM_014749:exon8:c.G1119A:p.S373S,KIAA0586:NM_001244190:exon9:c.G1074A:p.S358S,KIAA0586:NM_001244192:exon9:c.G987A:p.S329S,KIAA0586:NM_001244189:exon10:c.G1278A:p.S426S 1. 0.99 1. 1. 1. 1. 0.9991 0.9894 0.9995 1 1 1.0000 1 1 1. 0.99 1. 1. . rs1748971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 0.9899 0.9997 1 1 1 1.0000 0.9994 1 0.9966 0.9880 0.9988 1 1 1 1 1 hom 447.02 13 14 58917454 . G A 447.02 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.39;VQSLOD=13.4919;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:480,39,0 14 58937416 58937416 T C exonic KIAA0586 nonsynonymous SNV KIAA0586:NM_001244193:exon14:c.T2108C:p.L703P,KIAA0586:NM_014749:exon16:c.T2300C:p.L767P,KIAA0586:NM_001244191:exon17:c.T2273C:p.L758P,KIAA0586:NM_001329943:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329944:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329945:exon17:c.T2273C:p.L758P,KIAA0586:NM_001329946:exon17:c.T2528C:p.L843P,KIAA0586:NM_001329947:exon17:c.T2528C:p.L843P,KIAA0586:NM_001244190:exon18:c.T2483C:p.L828P,KIAA0586:NM_001244192:exon18:c.T2396C:p.L799P,KIAA0586:NM_001244189:exon19:c.T2687C:p.L896P 0.97 0.9 0.99 0.98 1. 1. 0.9916 0.9171 0.9960 0.9892 1 0.9994 0.9978 0.9985 0.98 0.93 1. 0.99 . rs1748986 . . . . . . . . . . . . . 0.363 0.146 T 0.0 0.067 B 0.001 0.063 B 0.506 0.051 N 1.000 0.186 P 0.205 0.094 N 0.85 0.471 T -1.19 0.303 N 0.028 0.049 -0.952 0.406 T 0.000 0.000 T . . . 0.214 0.114 4.826 0.755 0.107 0.003 0.018 N c -0.990 -0.953 0.651 0.222 0.706 0.609 0 2.02 0.255 0.283 0.185 0.107 0.202 0.001 0.137 0.824 0.344 7.892 0.287 . . . 0.9933 0.9216 0.9958 0.9987 0.9894 1.0000 0.9996 0.9963 0.9985 0.9771 0.9215 0.9940 1 0.9926 1 0.9997 0.9969 hom 1780.25 58 14 58937416 . T C 1780.25 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=30.69;VQSLOD=8.1040;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1813,138,0 14 58953746 58953746 C G exonic KIAA0586 nonsynonymous SNV KIAA0586:NM_001244193:exon19:c.C2746G:p.P916A,KIAA0586:NM_014749:exon21:c.C2938G:p.P980A,KIAA0586:NM_001244191:exon22:c.C2911G:p.P971A,KIAA0586:NM_001329943:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329944:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329945:exon22:c.C2911G:p.P971A,KIAA0586:NM_001329946:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001329947:exon22:c.C3166G:p.P1056A,KIAA0586:NM_001244190:exon23:c.C3121G:p.P1041A,KIAA0586:NM_001244192:exon23:c.C3034G:p.P1012A,KIAA0586:NM_001244189:exon24:c.C3325G:p.P1109A 0.97 0.91 1. 1. 1. 1. 0.9929 0.9202 0.9968 0.9998 1 0.9995 1 0.9997 0.98 0.93 1. 0.99 . rs1617510 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.063 B 0.007 0.318 N 1.000 0.192 P -1.05 0.011 N 1.11 0.389 T -0.72 0.210 N 0.05 0.059 -0.944 0.419 T 0.000 0.000 T . . . -0.494 0.056 0.228 0.076 0.000 0.062 0.120 N c -1.094 -0.922 0.717 0.229 0.732 0.924 0 2.23 0.271 0.443 0.212 -0.224 0.096 0.663 0.280 0.177 0.212 11.225 0.479 . . . 0.9944 0.9230 0.9966 0.9987 0.9999 1 0.9996 0.9976 0.9996 0.9779 0.9225 0.9964 1 1 1 0.9997 0.9980 hom 4600.01 154 14 58953746 . C G 4600.01 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1404;MQ=58.69;MQ0=0;QD=29.87;VQSLOD=8.2129;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:4599,346,0 14 59105188 59105188 C T exonic DACT1 synonymous SNV DACT1:NM_001079520:exon1:c.C268T:p.L90L,DACT1:NM_016651:exon1:c.C268T:p.L90L 0.56 0.7 0.56 0.42 0.54 0.54 0.5670 0.6949 0.5643 0.4022 0.5121 0.5692 0.5710 0.6124 0.58 0.67 0.54 0.38 0.35 rs2003021 COSM3749277 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5300 0.6727 0.5332 0.5153 0.3642 0.4618 0.5422 0.5265 0.5750 0.5534 0.6659 0.5564 0.5199 0.3870 0.4664 0.5306 0.4979 het 255.51 20 14 59105188 . C T 255.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.230;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.189;QD=12.78;ReadPosRankSum=-1.550;VQSLOD=10.3464;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:286,0,290 14 59112732 59112732 C T exonic DACT1 nonsynonymous SNV DACT1:NM_001079520:exon4:c.C1280T:p.A427V,DACT1:NM_016651:exon4:c.C1391T:p.A464V 0.27 0.24 0.19 0.27 0.32 0.31 0.2870 0.2629 0.1274 0.2427 0.2279 0.3130 0.2772 0.3564 0.3 0.26 0.32 0.3 0.25 rs17832998 COSM5425518 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.045 0.408 D 0.007 0.190 B 0.006 0.179 B 0.228 0.160 N 1 0.090 P 2.48 0.723 M 0.79 0.491 T -1.8 0.424 N 0.013 0.045 -0.969 0.374 T 0.000 0.000 T . . . 0.685 0.159 8.732 0.974 0.334 0.190 0.203 N c -0.879 -0.857 1.000 0.747 0.701 0.575 0 2.42 0.286 0.079 0.145 0.935 0.490 0.000 0.063 0.001 0.043 8.585 0.326 . . . 0.2786 0.2599 0.1437 0.2774 0.2479 0.2310 0.3146 0.2764 0.3571 0.2723 0.2642 0.1699 0.2417 0.2451 0.2450 0.2947 0.2403 het 1260.87 111 14 59112732 . C T 1260.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.873;DP=111;Dels=0.00;FS=7.570;HRun=1;HaplotypeScore=3.6236;MQ=58.94;MQ0=0;MQRankSum=0.898;QD=11.36;ReadPosRankSum=0.199;VQSLOD=5.0282;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,50:111:99:1291,0,1706 14 59797235 59797235 A G exonic DAAM1 synonymous SNV DAAM1:NM_014992:exon12:c.A1389G:p.Q463Q,DAAM1:NM_001270520:exon13:c.A1389G:p.Q463Q 0.66 0.52 0.64 0.84 0.66 0.66 0.6569 0.5367 0.6515 0.8112 0.6322 0.6615 0.6830 0.6456 0.61 0.54 0.65 0.58 0.49 rs941884 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6504 0.5283 0.6432 0.6129 0.8106 0.6312 0.6581 0.6605 0.6253 0.6166 0.5336 0.6265 0.5861 0.7859 0.6317 0.6428 0.6217 het 1335.43 104 14 59797235 . A G 1335.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.571;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4513;MQ=59.06;MQ0=0;MQRankSum=-0.689;QD=12.84;ReadPosRankSum=1.489;VQSLOD=5.3159;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,53:104:99:1365,0,1303 14 59939727 59939727 T C exonic L3HYPDH nonsynonymous SNV L3HYPDH:NM_001331158:exon5:c.A508G:p.I170V,L3HYPDH:NM_001331159:exon5:c.A508G:p.I170V,L3HYPDH:NM_144581:exon5:c.A1021G:p.I341V 0.52 0.83 0.55 0.21 0.47 0.45 0.4687 0.7615 0.4804 0.2026 0.3290 0.4627 0.4393 0.4972 0.56 0.76 0.46 0.52 0.55 rs8660 COSM3754022 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.020 0.270 N 1 0.090 P -0.35 0.031 N 2.2 0.186 T 0.05 0.064 N 0.01 0.001 -0.968 0.376 T 0.000 0.000 T . . . -2.344 0.004 0.001 0.120 0.002 0.008 0.033 N c -1.383 -1.319 1.000 0.467 0.732 0.924 0 1.76 0.237 0.398 0.205 0.015 0.141 0.002 0.151 0.251 0.228 5.517 0.161 . ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000181619.11|ENSG00000100592.11|ENSG00000139970.12|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000050130.13|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000050130.13|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7|ENSG00000126790.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Vagina|Whole_Blood 0.4588 0.7657 0.4806 0.6365 0.2045 0.3311 0.4509 0.4739 0.4914 0.5023 0.7634 0.4796 0.6291 0.1972 0.3406 0.4255 0.4148 hom 3479.53 110 14 59939727 . T C 3479.53 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6825;MQ=59.45;MQ0=0;QD=31.63;VQSLOD=9.2967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3479,265,0 14 59950676 59950676 A C exonic L3HYPDH nonsynonymous SNV L3HYPDH:NM_001331164:exon1:c.T359G:p.L120R,L3HYPDH:NM_144581:exon1:c.T359G:p.L120R 0.024 0.0015 0.052 . 0.074 0.0061 0.0787 0.0240 0.0681 0 0.1008 0.1269 0.0345 0.0171 0.045 0.014 0.061 0.011 0.057 rs34741399 COSM3754024 1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.883 0.466 P 0.601 0.490 P 0.000 0.843 D 1.000 0.588 D 1.775 0.461 L 2.07 0.204 T -4.47 0.778 D 0.183 0.223 -1.199 0.002 T 0.006 0.020 T . . . 4.597 0.616 24.4 0.993 0.591 0.913 0.529 D c 0.347 0.354 1.0 0.983 0.267 0.040 1 5.1 0.688 8.436 0.901 1.088 0.866 1.000 0.715 0.078 0.180 11.785 0.511 . ENSG00000139970.12|ENSG00000126790.7 Artery_Tibial|Cells_EBV-transformed_lymphocytes 0.0464 0.0115 0.0371 0.0682 0 0.0421 0.0708 0.0568 0.0150 0.0473 0.0135 0.0347 0.0497 0 0.0473 0.0726 0.0489 het 169.04 12 14 59950676 . A C 169.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DP=12;Dels=0.00;FS=10.561;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.278;QD=14.09;ReadPosRankSum=0.278;VQSLOD=3.7541;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,7:12:95.57:199,0,96 14 59950690 59950690 A C exonic L3HYPDH synonymous SNV L3HYPDH:NM_001331164:exon1:c.T345G:p.A115A,L3HYPDH:NM_144581:exon1:c.T345G:p.A115A 0.27 0.19 0.38 0.18 0.24 0.4 0.3774 0.3015 0.4877 0.3017 0.2533 0.3486 0.3355 0.4475 0.22 0.2 0.22 0.16 0.17 rs2296842 COSM433185 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2714 0.2102 0.3490 0.2662 0.1836 0.1221 0.2410 0.2552 0.4054 0.2064 0.2002 0.3301 0.2733 0.1728 0.1303 0.2229 0.2092 het 354.08 20 14 59950690 . A C 354.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.047;DP=20;Dels=0.00;FS=2.128;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-0.786;QD=17.70;ReadPosRankSum=-0.349;VQSLOD=5.3640;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:5,15:20:99:384,0,134 14 60063472 60063472 A G exonic RTN1 synonymous SNV RTN1:NM_206852:exon7:c.T618C:p.H206H,RTN1:NM_021136:exon9:c.T2322C:p.H774H 0.98 0.92 1. 1. 1. 1. 0.9937 0.9322 0.9976 1 1 0.9996 0.9945 0.9999 0.98 0.93 1. 0.94 0.97 rs6573275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9950 0.9313 0.9968 0.9987 1 1 0.9997 0.9965 0.9999 0.9810 0.9342 0.9940 1 1 1 0.9995 0.9969 hom 6363.99 217 14 60063472 . A G 6363.99 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5227;MQ=59.38;MQ0=0;QD=29.33;VQSLOD=8.1940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6363,497,0 14 60574539 60574539 A G exonic PCNX4 synonymous SNV PCNX4:NM_001330177:exon2:c.A183G:p.L61L 0.82 0.75 0.9 0.89 0.9 0.71 0.8744 0.7834 0.9303 0.9131 0.9250 0.8975 0.875 0.7527 0.87 0.78 0.91 0.88 . rs12465 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8786 0.7803 0.9232 0.9096 0.9112 0.9234 0.8957 0.8797 0.7555 0.8712 0.7836 0.9105 0.9073 0.8957 0.9210 0.9035 0.8941 het 771.07 60 14 60574539 . A G 771.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.556;DP=60;Dels=0.00;FS=0.988;HRun=0;HaplotypeScore=2.2829;MQ=58.13;MQ0=0;MQRankSum=0.311;QD=12.85;ReadPosRankSum=-0.044;VQSLOD=5.7511;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,29:60:99:801,0,877 14 60581863 60581863 G A exonic PCNX4 synonymous SNV PCNX4:NM_022495:exon3:c.G339A:p.P113P,PCNX4:NM_001330177:exon4:c.G1041A:p.P347P 0.69 0.42 0.88 0.72 0.9 0.68 0.8323 0.4970 0.9161 0.7682 0.9220 0.8924 0.8433 0.7264 0.78 0.51 0.9 0.76 . rs219314 COSM3931952;COSM3931951 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8419 0.4943 0.9080 0.8957 0.7681 0.9199 0.8906 0.8583 0.7309 0.7806 0.5015 0.8938 0.8907 0.7664 0.9181 0.8970 0.8735 het 1659.92 136 14 60581863 . G A 1659.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.972;DP=136;Dels=0.00;FS=0.659;HRun=0;HaplotypeScore=0.9958;MQ=58.53;MQ0=0;MQRankSum=1.877;QD=12.21;ReadPosRankSum=-0.521;VQSLOD=5.8137;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,64:136:99:1690,0,1930 14 60581935 60581935 C T exonic PCNX4 synonymous SNV PCNX4:NM_022495:exon3:c.C411T:p.S137S,PCNX4:NM_001330177:exon4:c.C1113T:p.S371S 0.81 0.71 0.89 0.89 0.9 0.71 0.8706 0.7492 0.9280 0.9125 0.9243 0.8970 0.8756 0.7517 0.86 0.75 0.9 0.86 . rs150687 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8757 0.7466 0.9214 0.9074 0.9108 0.9228 0.8950 0.8796 0.7551 0.8617 0.7516 0.9093 0.9040 0.8958 0.9209 0.9027 0.8921 het 2796.94 249 14 60581935 . C T 2796.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.738;DP=249;Dels=0.00;FS=0.978;HRun=2;HaplotypeScore=6.2842;MQ=58.82;MQ0=0;MQRankSum=-0.368;QD=11.23;ReadPosRankSum=1.238;VQSLOD=4.8295;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,117:249:99:2827,0,3566 14 60582053 60582053 G A exonic PCNX4 nonsynonymous SNV PCNX4:NM_022495:exon3:c.G529A:p.V177I,PCNX4:NM_001330177:exon4:c.G1231A:p.V411I 0.65 0.39 0.86 0.65 0.88 0.61 0.7938 0.4562 0.8938 0.6911 0.8946 0.8622 0.7978 0.6595 0.74 0.46 0.87 0.74 . rs150688 . . . . . . . . . . . . . 0.273 0.171 T 0.01 0.144 B 0.002 0.063 B . . . 1.000 0.205 P 0.665 0.163 N 1.59 0.293 T -0.58 0.174 N 0.049 0.030 -1.057 0.125 T 0.000 0.000 T . . . 0.319 0.125 5.879 0.848 0.150 0.885 0.481 D c -0.858 -0.751 0.821 0.245 0.706 0.609 0 0.159 0.142 2.342 0.434 -0.225 0.096 1.000 0.715 0.690 0.307 7.342 0.257 . ENSG00000126773.8|ENSG00000126773.8|ENSG00000126773.8|ENSG00000100612.9|ENSG00000126773.8|ENSG00000100612.9|ENSG00000100612.9|ENSG00000100612.9|ENSG00000100612.9|ENSG00000100612.9|ENSG00000126773.8|ENSG00000100612.9|ENSG00000126773.8|ENSG00000126773.8|ENSG00000126773.8|ENSG00000100612.9|ENSG00000258553.1|ENSG00000126773.8|ENSG00000100612.9|ENSG00000100612.9 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Colon_Transverse|Esophagus_Mucosa|Liver|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.8036 0.4520 0.8858 0.8218 0.6932 0.8909 0.8631 0.8245 0.6607 0.7472 0.4591 0.8795 0.81 0.7084 0.8932 0.8705 0.8323 het 2531.74 225 14 60582053 . G A 2531.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.008;DP=225;Dels=0.00;FS=3.752;HRun=0;HaplotypeScore=8.3457;MQ=58.90;MQ0=0;MQRankSum=0.159;QD=11.25;ReadPosRankSum=0.132;VQSLOD=4.6660;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,100:225:99:2562,0,3184 14 60585131 60585131 A G exonic PCNX4 nonsynonymous SNV PCNX4:NM_022495:exon6:c.A961G:p.K321E,PCNX4:NM_001330177:exon7:c.A1663G:p.K555E 0.34 0.58 0.14 0.35 0.12 0.39 0.2135 0.5205 0.1117 0.3189 0.1113 0.1450 0.2073 0.3491 0.25 0.49 0.13 0.26 . rs308998 COSM3754027;COSM3754026 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.158 0.247 T 0.015 0.158 B 0.011 0.145 B . . . 0.000 0.520 P 2.545 0.745 M 1.74 0.278 T -2.69 0.595 D 0.241 0.306 -0.956 0.400 T 0.000 0.000 T . . . 2.195 0.325 17.48 0.995 0.652 0.983 0.810 D c -0.138 0.021 1.000 0.747 0.707 0.730 0 4.93 0.643 5.714 0.679 0.220 0.255 1.000 0.715 0.996 0.625 12.334 0.542 . ENSG00000126773.8|ENSG00000126773.8|ENSG00000126773.8|ENSG00000100612.9|ENSG00000126773.8|ENSG00000100612.9|ENSG00000100612.9|ENSG00000100612.9|ENSG00000100612.9|ENSG00000100612.9|ENSG00000126773.8|ENSG00000100612.9|ENSG00000126773.8|ENSG00000126773.8|ENSG00000126773.8|ENSG00000100612.9|ENSG00000258553.1|ENSG00000126773.8|ENSG00000100612.9|ENSG00000100612.9 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Colon_Transverse|Esophagus_Mucosa|Liver|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.1935 0.5140 0.1123 0.1775 0.3061 0.1090 0.1365 0.175 0.3363 0.2435 0.5084 0.1146 0.1954 0.2914 0.1071 0.1296 0.1653 het 352.59 40 14 60585131 . A G 352.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8273;MQ=60.00;MQ0=0;MQRankSum=-0.969;QD=8.81;ReadPosRankSum=-2.378;VQSLOD=4.7178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,18:40:99:383,0,544 14 60591829 60591829 T C exonic PCNX4 synonymous SNV PCNX4:NM_022495:exon8:c.T2238C:p.F746F,PCNX4:NM_001330177:exon9:c.T2940C:p.F980F 0.33 0.58 0.14 0.29 0.12 0.37 0.2040 0.5141 0.0997 0.2623 0.1036 0.1418 0.1900 0.3306 0.25 0.5 0.13 0.25 . rs308990 COSM3754030;COSM3754028;COSM3754029 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1865 0.5130 0.1037 0.1765 0.2543 0.1054 0.1360 0.1699 0.3232 0.2400 0.5084 0.1098 0.1954 0.25 0.1036 0.1282 0.1561 het 339.42 28 14 60591829 . T C 339.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.147;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=0.023;QD=12.12;ReadPosRankSum=-1.907;VQSLOD=6.0051;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,14:28:99:369,0,396 14 60591887 60591887 G A exonic PCNX4 nonsynonymous SNV PCNX4:NM_022495:exon8:c.G2296A:p.G766S,PCNX4:NM_001330177:exon9:c.G2998A:p.G1000S 0.35 0.61 0.14 0.35 0.12 0.38 0.2246 0.5479 0.1223 0.3263 0.1125 0.1501 0.2062 0.3549 0.27 0.54 0.13 0.26 . rs167437 COSM3754033;COSM3754032;COSM3754031 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.004 0.112 B 0.002 0.063 B 0.021 0.269 N 1.000 0.090 P -1.935 0.002 N 1.12 0.387 T 1.02 0.018 N 0.014 0.019 -0.930 0.442 T 0.000 0.000 T . . . 1.564 0.250 13.66 0.122 0.002 0.507 0.285 D c -0.815 -0.537 1.000 0.417 0.707 0.730 0 5.18 0.710 4.436 0.595 0.202 0.252 0.997 0.399 0.997 0.653 6.555 0.215 . ENSG00000126773.8|ENSG00000126773.8|ENSG00000126773.8|ENSG00000100612.9|ENSG00000126773.8|ENSG00000100612.9|ENSG00000100612.9|ENSG00000100612.9|ENSG00000100612.9|ENSG00000100612.9|ENSG00000126773.8|ENSG00000100612.9|ENSG00000126773.8|ENSG00000126773.8|ENSG00000126773.8|ENSG00000100612.9|ENSG00000258553.1|ENSG00000126773.8|ENSG00000100612.9|ENSG00000100612.9 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Colon_Transverse|Esophagus_Mucosa|Liver|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.1955 0.5453 0.1140 0.1765 0.3059 0.1090 0.1360 0.1761 0.3359 0.2535 0.5424 0.1205 0.1954 0.2915 0.1069 0.1298 0.1680 het 296.02 22 14 60591887 . G A 296.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.626;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.363;QD=13.46;ReadPosRankSum=-2.143;VQSLOD=10.7210;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,12:22:99:326,0,213 14 60923783 60923783 C T exonic C14orf39 nonsynonymous SNV C14orf39:NM_174978:exon15:c.G1210A:p.V404I 0.9 0.97 0.97 0.88 0.98 0.73 0.9426 0.9683 0.9616 0.8710 0.9959 0.9790 0.9593 0.7815 0.98 0.97 0.98 0.92 0.81 rs11625921 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.787 0.094 N 1 0.090 P -1.03 0.011 N 1.92 0.231 T 0.12 0.056 N 0.063 0.048 -1.000 0.299 T 0.000 0.000 T . . . -0.538 0.053 0.177 0.190 0.006 0.002 0.011 N c -1.623 -1.469 0.000 0.029 0.487 0.133 0 1.81 0.240 -0.244 0.088 -0.679 0.039 0.000 0.063 0.618 0.292 7.241 0.251 . . . 0.9465 0.9685 0.9667 0.9668 0.8702 0.9965 0.9794 0.9623 0.7806 0.9746 0.9656 0.9725 0.9636 0.8872 0.9966 0.9842 0.9776 hom 1538.65 50 14 60923783 . C T 1538.65 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.38;MQ0=0;QD=30.77;VQSLOD=8.6222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1572,123,0 14 60976537 60976537 C A exonic SIX6 nonsynonymous SNV SIX6:NM_007374:exon1:c.C421A:p.H141N 0.34 0.032 0.66 0.21 0.6 0.4 0.5153 0.1105 0.6915 0.2285 0.7299 0.5843 0.5717 0.4264 0.44 0.12 0.6 0.3 0.43 rs33912345 COSM1745015 1(soft_tissue) Benign|Benign not_specified|Anophthalmia/Microphthalmia RCV000253819.1|RCV000270432.1 MedGen|MedGen CN169374|CN239484 . . . . . . 0.554 0.065 T 0.0 0.026 B 0.002 0.063 B 0.000 0.843 D 0.000 0.588 P -1.515 0.005 N -3.86 0.959 D 1.01 0.014 N 0.091 0.089 -0.959 0.394 T 0.000 0.000 T . . . 1.367 0.228 12.61 0.938 0.232 0.948 0.622 D c -0.274 0.016 1.000 0.747 0.598 0.340 0 5.38 0.772 3.206 0.506 0.932 0.445 1.000 0.715 0.961 0.442 14.842 0.697 Homeobox domain|Homeodomain-like ENSG00000184302.6|ENSG00000258692.2|ENSG00000179008.4 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal 0.5333 0.1040 0.6845 0.5052 0.2187 0.7232 0.5891 0.5331 0.4284 0.4724 0.1112 0.6838 0.4533 0.2323 0.7299 0.6269 0.6286 het 914.30 70 14 60976537 . C A 914.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.483;DP=70;Dels=0.00;FS=8.288;HRun=1;HaplotypeScore=3.5067;MQ=60.00;MQ0=0;MQRankSum=0.241;QD=13.06;ReadPosRankSum=-1.193;VQSLOD=4.1999;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,36:70:99:944,0,903 14 61180657 61180657 T G exonic SIX4 nonsynonymous SNV SIX4:NM_017420:exon3:c.A1814C:p.H605P 0.65 0.56 0.73 0.66 0.72 0.62 0.6868 0.5641 0.7867 0.6420 0.7113 0.7017 0.6861 0.6477 0.66 0.56 0.7 0.7 0.77 rs3742636 COSM5001993 1(pancreas) . . . . . . . . . . . 0.003 0.682 D 0.838 0.444 P 0.367 0.416 B 0.119 0.191 N 0.000 0.530 P 0.55 0.145 N -2.82 0.912 D -1.62 0.389 N 0.279 0.457 -0.903 0.477 T 0.000 0.000 T . . . 3.965 0.534 23.6 0.968 0.307 0.960 0.668 D c 0.177 0.262 1.000 0.410 0.635 0.413 0 5.44 0.793 3.678 0.541 1.061 0.807 1.000 0.715 0.988 0.529 15.514 0.754 . ENSG00000139970.12 Artery_Tibial 0.6928 0.5602 0.7821 0.6051 0.6471 0.7215 0.7058 0.7098 0.6443 0.6731 0.5574 0.7912 0.6093 0.6665 0.7175 0.7221 0.7194 hom 1706.18 50 14 61180657 . T G 1706.18 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6553;MQ=60.00;MQ0=0;QD=34.12;VQSLOD=9.2623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1739,138,0 14 61445967 61445967 A G exonic TRMT5 nonsynonymous SNV TRMT5:NM_001350253:exon2:c.T733C:p.S245P,TRMT5:NM_001350254:exon2:c.T730C:p.S244P,TRMT5:NM_020810:exon2:c.T649C:p.S217P 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 1 . . . 1. 1. rs7142228 COSM4591907 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 1 hom 2994.36 101 14 61445967 . A G 2994.36 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.77;MQ0=0;QD=29.65;VQSLOD=8.3733;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3027,226,0 14 61449328 61449328 T A exonic SLC38A6 nonsynonymous SNV SLC38A6:NM_001172702:exon2:c.T208A:p.L70M,SLC38A6:NM_153811:exon2:c.T208A:p.L70M 0.84 0.88 0.86 0.77 0.98 0.73 0.9185 0.8799 0.8210 0.7798 0.9906 0.9849 0.9438 0.7854 0.95 0.87 0.98 0.86 0.94 rs976272 COSM5425371;COSM5425372 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.003 0.151 B 0.009 0.149 B 0.000 0.843 N 1.000 0.197 P -1.985 0.002 N 4.35 0.024 T 2.66 0.002 N 0.176 0.396 -1.020 0.238 T 0.000 0.000 T . . . -0.032 0.091 2.285 0.836 0.143 0.172 0.195 N c -0.846 -0.533 1.000 0.747 0.660 0.490 0 4.48 0.538 6.839 0.750 0.242 0.267 1.000 0.715 0.993 0.574 8.082 0.297 Amino acid transporter\x2c transmembrane domain . . 0.9175 0.8811 0.8310 0.9491 0.7822 0.9910 0.9861 0.9429 0.7881 0.9440 0.8838 0.8437 0.9338 0.7951 0.9906 0.9887 0.9644 hom 5059.26 179 14 61449328 . T A 5059.26 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6885;MQ=58.61;MQ0=0;QD=28.26;VQSLOD=8.2132;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5059,385,0 14 61509924 61509924 T C exonic SLC38A6 synonymous SNV SLC38A6:NM_001172702:exon9:c.T684C:p.G228G,SLC38A6:NM_153811:exon9:c.T684C:p.G228G 0.84 0.87 0.86 0.77 0.98 0.73 0.9187 0.8770 0.8212 0.7849 0.9906 0.9849 0.9459 0.7848 0.95 0.87 0.98 0.86 0.8 rs2296921 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9212 0.8771 0.8229 0.9469 0.7825 0.9910 0.9860 0.9413 0.7805 0.9435 0.8810 0.8425 0.9338 0.8016 0.9905 0.9886 0.9641 hom 1093.67 40 14 61509924 . T C 1093.67 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8790;MQ=58.84;MQ0=0;QD=27.34;VQSLOD=7.7294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:40:84.26:1127,84,0 14 61857969 61857969 A G exonic PRKCH synonymous SNV PRKCH:NM_006255:exon2:c.A390G:p.V130V 0.28 0.5 0.19 0.25 0.16 0.2 0.1987 0.4189 0.2171 0.2224 0.2142 0.1619 0.2007 0.1781 0.24 0.41 0.16 0.3 0.18 rs2230499 COSM5828123;COSM3754034 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1919 0.4173 0.2109 0.1667 0.2174 0.2118 0.1557 0.1784 0.1733 0.2444 0.4143 0.2206 0.1689 0.2077 0.2171 0.1625 0.1930 het 657.84 48 14 61857969 . A G 657.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.811;DP=48;Dels=0.00;FS=1.166;HRun=0;HaplotypeScore=1.5592;MQ=58.60;MQ0=0;MQRankSum=-0.486;QD=13.70;ReadPosRankSum=-1.790;VQSLOD=5.5558;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,26:48:99:688,0,514 14 61997226 61997226 C T exonic PRKCH synonymous SNV PRKCH:NM_006255:exon12:c.C1674T:p.N558N 0.67 0.31 0.86 0.67 0.87 0.82 0.7984 0.3829 0.8825 0.6652 0.8134 0.8602 0.8172 0.8137 0.71 0.4 0.86 0.52 0.74 rs1088680 COSM5438357 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8101 0.3778 0.8807 0.9158 0.6607 0.8190 0.8575 0.8410 0.8157 0.7139 0.3958 0.8768 0.9238 0.6704 0.8239 0.8554 0.8408 hom 7703.59 245 14 61997226 . C T 7703.59 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3596;MQ=59.85;MQ0=0;QD=31.44;VQSLOD=8.9318;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:7703,614,0 14 62462766 62462766 T C exonic SYT16 nonsynonymous SNV SYT16:NM_031914:exon1:c.T29C:p.V10A 0.79 0.95 0.77 0.8 0.74 0.64 0.7482 0.9280 0.7547 0.7720 0.7236 0.7359 0.7285 0.6781 0.8 0.92 0.74 0.76 . rs8019076 COSM4418034;COSM4418033 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.623 0.107 N 1 0.090 P -0.665 0.020 N . . . . . . 0.029 0.010 -0.973 0.366 T 0.000 0.000 T . . . -1.078 0.029 0.011 0.502 0.043 0.013 0.044 N c -1.191 -1.073 0.000 0.042 0.554 0.246 0 -0.606 0.110 -0.567 0.060 -1.453 0.011 0.068 0.218 0.841 0.351 5.365 0.153 . . . 0.7447 0.9299 0.7619 0.8294 0.7706 0.7217 0.7300 0.7464 0.6585 0.7921 0.93 0.7530 0.8245 0.7580 0.7140 0.7393 0.7295 hom 1278.98 39 14 62462766 . T C 1278.98 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;QD=32.79;VQSLOD=9.0032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1312,99,0 14 62463214 62463214 C T exonic SYT16 synonymous SNV SYT16:NM_031914:exon1:c.C477T:p.D159D 0.56 0.62 0.59 0.75 0.4 0.43 0.4684 0.5815 0.6260 0.7383 0.3807 0.4070 0.4609 0.4339 0.46 0.56 0.41 0.58 . rs1889806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4704 0.5826 0.6094 0.5079 0.7379 0.3895 0.3968 0.4629 0.4261 0.4686 0.5881 0.5573 0.5199 0.7275 0.3748 0.3919 0.4051 hom 4184.24 137 14 62463214 . C T 4184.24 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5885;MQ=58.50;MQ0=0;QD=30.54;VQSLOD=8.5686;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4184,334,0 14 63174616 63174616 T C exonic KCNH5 synonymous SNV KCNH5:NM_139318:exon11:c.A2577G:p.R859R 0.92 0.76 0.96 1. 0.99 0.98 0.9720 0.7908 0.9812 0.9998 0.9974 0.9905 0.9725 0.9801 0.93 0.8 0.99 0.85 0.96 rs7161127 COSM5543047 1(NS) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9759 0.7909 0.9806 0.9730 0.9999 0.9965 0.9912 0.9752 0.9798 0.9382 0.7975 0.9797 0.9768 1 0.9971 0.9935 0.9817 hom 4405.03 139 14 63174616 . T C 4405.03 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9497;MQ=59.33;MQ0=0;QD=31.69;VQSLOD=9.5598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4405,337,0 14 63174960 63174960 C T exonic KCNH5 nonsynonymous SNV KCNH5:NM_139318:exon11:c.G2233A:p.A745T 0.22 0.19 0.3 0.15 0.35 0.15 0.2941 0.2063 0.3077 0.1378 0.3702 0.3448 0.2952 0.1866 0.3 0.21 0.35 0.28 0.32 rs4902176 COSM3754035 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.634 0.051 T 0.017 0.163 B 0.003 0.080 B 0.000 0.843 D 0.000 0.810 P -1.1 0.010 N -5.22 0.989 D -0.21 0.103 N 0.064 0.049 -0.909 0.470 T 0.000 0.000 T . . . 1.150 0.205 11.49 0.813 0.132 0.865 0.455 D c -0.137 0.043 0.908 0.262 0.500 0.196 0 5.52 0.821 4.912 0.628 0.935 0.490 1.000 0.715 0.991 0.552 19.456 0.949 . ENSG00000140015.15 Testis 0.2986 0.2064 0.3244 0.2605 0.1375 0.3669 0.3477 0.3231 0.1867 0.3005 0.2061 0.3389 0.2185 0.1588 0.3796 0.3497 0.3357 het 1768.27 115 14 63174960 . C T 1768.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.927;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.60;MQ0=0;MQRankSum=0.374;QD=15.38;ReadPosRankSum=-2.007;VQSLOD=5.9960;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,64:115:99:1798,0,1366 14 63784407 63784407 - G exonic;splicing GPHB5;GPHB5 NM_145171:exon2:c.156+1->C unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. . . rs397688157 COSM5022178;COSM5022177 1(bone);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 hom 2394.57 58 14 63784407 . A AG 2394.57 Mask AC=2;AF=1.00;AN=2;DP=58;FS=0.000;HRun=1;HaplotypeScore=135.8437;MQ=60.93;MQ0=0;QD=41.29;set=variant2 GT:AD:DP:GQ:PL 1/1:3,55:58:99:2437,166,0 14 64408852 64408852 G C exonic SYNE2 synonymous SNV SYNE2:NM_015180:exon6:c.G399C:p.L133L,SYNE2:NM_182914:exon6:c.G399C:p.L133L 0.11 0.25 0.11 0.047 0.047 0.038 0.0840 0.2226 0.1667 0.0471 0.0398 0.0695 0.0537 0.0410 0.11 0.2 0.072 0.16 0.074 rs33976862 COSM147791 1(haematopoietic_and_lymphoid_tissue);1(stomach) Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118536.1|RCV000296672.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0841 0.2218 0.1651 0.0509 0.0421 0.0435 0.0713 0.0702 0.0389 0.1087 0.2129 0.1539 0.0530 0.0420 0.0343 0.0742 0.0631 het 892.58 72 14 64408852 . G C 892.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.237;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8230;MQ=59.22;MQ0=0;MQRankSum=0.237;QD=12.40;ReadPosRankSum=0.225;VQSLOD=6.6923;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:923,0,966 14 64469828 64469828 C T exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon30:c.C4177T:p.R1393W,SYNE2:NM_182914:exon30:c.C4177T:p.R1393W 0.026 0.0038 0.084 . 0.048 0.017 0.0564 0.0134 0.1326 0.0003 0.0386 0.0672 0.0412 0.0217 0.053 0.013 0.071 0.043 0.074 rs17751301 COSM3754037 1(large_intestine) Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118537.1|RCV000278257.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . 0.062 0.373 T 0.001 0.090 B 0.0 0.040 B 0.007 0.011 N 1 0.090 N 1.5 0.380 L 0.79 0.570 T -1.45 0.412 N 0.056 0.181 -1.056 0.128 T 0.008 0.027 T . . . 0.896 0.179 10.05 0.186 0.006 0.014 0.048 N c -1.343 -1.399 0.039 0.144 0.651 0.465 0 -3.22 0.048 -1.033 0.037 -2.737 0.002 0.000 0.063 0.000 0.016 2.748 0.049 . . . 0.0598 0.0121 0.1308 0.0506 0.0002 0.0425 0.0695 0.0562 0.0202 0.0471 0.0104 0.1134 0.0497 0 0.0335 0.0728 0.0489 het 680.81 78 14 64469828 . C T 680.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.419;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=57.95;MQ0=0;MQRankSum=-0.817;QD=8.73;ReadPosRankSum=0.643;VQSLOD=5.8223;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,31:78:99:711,0,1196 14 64491695 64491695 T C exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon40:c.T5906C:p.M1969T,SYNE2:NM_182914:exon40:c.T5906C:p.M1969T 0.68 0.33 0.78 0.78 0.88 0.77 0.8118 0.4132 0.8016 0.7883 0.8763 0.8695 0.8073 0.8087 0.74 0.44 0.87 0.6 0.79 rs4902264 . . Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118541.1|RCV000350785.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . 1.0 0.010 T 0.002 0.102 B 0.0 0.040 B 0.197 0.167 N 1 0.090 P 0.695 0.181 N 0.86 0.558 T 1.08 0.014 N 0.039 0.146 -0.993 0.319 T 0.000 0.000 T . . . -0.528 0.054 0.187 0.603 0.063 0.041 0.094 N c -0.990 -0.972 0.012 0.123 0.651 0.465 0 -1.29 0.088 -0.037 0.120 1.061 0.807 0.030 0.202 0.981 0.494 3.203 0.062 . . . 0.8163 0.4066 0.8032 0.7749 0.7851 0.8723 0.8757 0.8103 0.8101 0.7366 0.4183 0.8138 0.7781 0.8113 0.8666 0.8722 0.8303 hom 3101.06 107 14 64491695 . T C 3101.06 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.22;MQ0=0;QD=28.98;VQSLOD=8.3020;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3134,253,0 14 64494278 64494278 C T exonic SYNE2 synonymous SNV SYNE2:NM_015180:exon43:c.C6481T:p.L2161L,SYNE2:NM_182914:exon43:c.C6481T:p.L2161L 0.75 0.48 0.88 0.83 0.91 0.78 0.8692 0.5470 0.9370 0.8353 0.9271 0.9136 0.86 0.8283 0.81 0.56 0.92 0.71 0.78 rs10151127 . . Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118543.2|RCV000339334.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8766 0.5460 0.9306 0.8383 0.8316 0.9242 0.9192 0.8715 0.8309 0.8190 0.5666 0.9177 0.8510 0.8577 0.9316 0.9247 0.8890 hom 3130.09 108 14 64494278 . C T 3130.09 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8317;MQ=59.79;MQ0=0;QD=28.98;VQSLOD=8.2788;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3163,241,0 14 64496749 64496749 C T exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon44:c.C6851T:p.A2284V,SYNE2:NM_182914:exon44:c.C6851T:p.A2284V 0.67 0.32 0.8 0.78 0.88 0.74 0.8122 0.4075 0.8285 0.7810 0.8758 0.8730 0.8085 0.7860 0.74 0.44 0.88 0.61 0.76 rs4027402 . . Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118544.1|RCV000364940.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . 0.177 0.290 T 0.033 0.213 B 0.009 0.179 B 0.325 0.142 N 1 0.090 P 1.175 0.300 L 1.29 0.358 T -2.05 0.483 N 0.027 0.028 -0.997 0.308 T 0.000 0.000 T . . . 1.145 0.204 11.46 0.720 0.095 0.097 0.153 N c -1.124 -1.113 0.211 0.182 0.707 0.730 0 1.21 0.201 0.370 0.200 -0.309 0.079 0.000 0.063 0.175 0.211 4.485 0.111 . . . 0.8178 0.4001 0.8274 0.7806 0.7780 0.8715 0.8788 0.8170 0.7892 0.7377 0.4153 0.8270 0.7781 0.8103 0.8658 0.8750 0.8327 hom 1664.70 59 14 64496749 . C T 1664.70 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=59.37;MQ0=0;QD=28.22;VQSLOD=8.0249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1698,129,0 14 64497930 64497930 G A exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon45:c.G7076A:p.S2359N,SYNE2:NM_182914:exon45:c.G7076A:p.S2359N 0.7 0.42 0.81 0.78 0.88 0.75 0.8209 0.5005 0.8328 0.7824 0.8757 0.8733 0.8122 0.7895 0.77 0.53 0.88 0.63 0.77 rs4027404 . . Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118548.1|RCV000281736.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . 0.317 0.137 T 0.002 0.112 B 0.005 0.149 B 0.051 0.230 N 1.000 0.588 P 1.61 0.413 L 0.71 0.577 T -0.53 0.164 N 0.002 0.004 -0.995 0.313 T 0.000 0.000 T . . . 0.282 0.121 5.521 0.469 0.037 0.441 0.270 N c -0.545 -0.437 0.288 0.191 0.707 0.730 0 3.1 0.346 0.999 0.292 1.048 0.713 0.993 0.376 0.955 0.433 5.694 0.170 . . . 0.8252 0.4973 0.8324 0.7815 0.7785 0.8715 0.8790 0.8208 0.7925 0.7644 0.5099 0.8282 0.7815 0.8098 0.8658 0.8750 0.8354 hom 5132.93 166 14 64497930 . G A 5132.93 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5191;MQ=59.49;MQ0=0;QD=30.92;VQSLOD=8.3500;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5132,415,0 14 64498037 64498037 G A exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon45:c.G7183A:p.A2395T,SYNE2:NM_182914:exon45:c.G7183A:p.A2395T 0.84 0.76 0.9 0.85 0.91 0.81 0.8924 0.7782 0.9470 0.8479 0.9274 0.9137 0.8747 0.8451 0.88 0.78 0.92 0.85 0.87 rs4027405 . . Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118551.1|RCV000393202.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . 0.23 0.183 T 0.005 0.139 B 0.005 0.139 B 0.056 0.226 N 1 0.090 P 1.12 0.289 L 0.7 0.570 T -0.52 0.162 N 0.012 0.018 -0.995 0.314 T 0.000 0.000 T . . . 3.315 0.457 22.9 0.766 0.112 0.064 0.122 N c -0.780 -0.679 0.235 0.185 0.707 0.730 0 3.21 0.358 1.847 0.387 1.048 0.713 0.007 0.175 0.035 0.152 7.078 0.242 . . . 0.8951 0.7725 0.9428 0.8300 0.8418 0.9242 0.9196 0.8820 0.8467 0.8806 0.7801 0.9344 0.8444 0.8599 0.9309 0.9257 0.9039 hom 2536.87 89 14 64498037 . G A 2536.87 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8808;MQ=59.22;MQ0=0;QD=28.50;VQSLOD=8.5344;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2570,208,0 14 64519035 64519035 A G exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon48:c.A8404G:p.S2802G,SYNE2:NM_182914:exon48:c.A8404G:p.S2802G 0.86 0.86 0.92 0.85 0.91 0.79 0.9068 0.8666 0.9554 0.8491 0.9424 0.9299 0.8922 0.8195 0.91 0.87 0.93 0.91 0.87 rs1890908 . . Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118553.1|RCV000280345.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . 0.387 0.152 T 0.035 0.215 B 0.018 0.225 B 0.035 0.018 N 1 0.090 P 1.04 0.263 L 1.32 0.352 T -1.71 0.422 N 0.006 0.026 -1.027 0.214 T 0.000 0.000 T . . . -1.115 0.028 0.009 0.597 0.061 0.012 0.043 N c -1.863 -1.898 0.999 0.382 0.706 0.609 0 -6.91 0.015 -1.591 0.022 -3.582 0.001 0.000 0.063 0.000 0.016 8.692 0.333 . . . 0.9085 0.8675 0.9514 0.8213 0.8433 0.9425 0.9365 0.9008 0.8217 0.9162 0.8733 0.9510 0.8278 0.8620 0.9410 0.9407 0.9206 hom 2428.69 78 14 64519035 . A G 2428.69 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=59.76;MQ0=0;QD=31.14;VQSLOD=9.5904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:78:99:2462,199,0 14 64519455 64519455 A G exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon48:c.A8824G:p.I2942V,SYNE2:NM_182914:exon48:c.A8824G:p.I2942V 0.67 0.3 0.79 0.78 0.86 0.75 0.8031 0.3874 0.8198 0.7874 0.8663 0.8602 0.7987 0.7882 0.72 0.41 0.86 0.61 0.75 rs3829767 . . Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118556.1|RCV000377044.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . 0.072 0.349 T 0.001 0.090 B 0.002 0.104 B 0.617 0.108 N 1 0.213 P 1.39 0.351 L 0.39 0.626 T -0.59 0.187 N 0.024 0.023 -0.956 0.399 T 0.000 0.000 T . . . -1.332 0.021 0.004 0.412 0.029 0.041 0.095 N c -1.324 -1.419 0.999 0.381 0.732 0.924 0 -7.86 0.010 -0.838 0.044 0.195 0.250 0.007 0.175 0.309 0.239 0.480 0.005 . . . 0.8082 0.3787 0.8198 0.7440 0.7845 0.8631 0.8669 0.8057 0.7903 0.7231 0.3903 0.8210 0.7433 0.8127 0.8574 0.8632 0.8204 hom 1534.18 52 14 64519455 . A G 1534.18 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;QD=29.50;VQSLOD=8.5776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1567,123,0 14 64522674 64522674 G C exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon49:c.G9757C:p.D3253H,SYNE2:NM_182914:exon49:c.G9757C:p.D3253H 0.68 0.36 0.8 0.78 0.86 0.75 0.8076 0.4440 0.8225 0.7868 0.8663 0.8600 0.8007 0.7881 0.74 0.47 0.86 0.63 0.78 rs8010911 COSM5424759 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118560.1|RCV000384721.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . 0.089 0.321 T 0.232 0.317 B 0.259 0.441 B 0.267 0.152 N 0.994 0.588 P 2.075 0.572 M 1.22 0.370 T -1.92 0.493 N 0.076 0.171 -1.079 0.076 T 0.000 0.000 T . . . 4.615 0.618 24.4 0.942 0.238 0.920 0.544 D c -0.480 -0.407 0.699 0.227 0.732 0.924 0 2.85 0.322 2.894 0.481 0.093 0.196 1.000 0.715 0.994 0.587 9.566 0.384 . . . 0.8117 0.4370 0.8218 0.7438 0.7840 0.8632 0.8664 0.8080 0.7897 0.7395 0.4482 0.8254 0.7417 0.8116 0.8574 0.8631 0.8238 hom 1833.42 58 14 64522674 . G C 1833.42 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=58.88;MQ0=0;QD=31.61;VQSLOD=8.4286;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1866,147,0 14 64522843 64522843 A G exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon49:c.A9926G:p.H3309R,SYNE2:NM_182914:exon49:c.A9926G:p.H3309R 0.68 0.36 0.8 0.78 0.86 0.75 0.8074 0.4444 0.8225 0.7873 0.8658 0.8599 0.7989 0.7877 0.74 0.48 0.86 0.63 0.78 rs8010699 . . Benign|Benign\x2cUncertain significance not_specified|Emery-Dreifuss_muscular_dystrophy\x2cnot_specified RCV000118561.1|RCV000344125.1\x2cRCV000393944.1 MedGen|MedGen:Orphanet:SNOMED_CT\x2cMedGen CN169374|C0410189:ORPHA261:111508004\x2cCN169374 . . . . . . 0.013 0.538 D 0.023 0.197 B 0.019 0.229 B 0.043 0.238 N 1 0.237 P 0 0.065 N 1.4 0.336 T -1.54 0.373 N 0.023 0.034 -1.049 0.148 T 0.000 0.000 T . . . -0.330 0.066 0.567 0.535 0.049 0.131 0.175 N c -0.929 -0.865 0.860 0.252 0.707 0.730 0 3.4 0.379 1.125 0.307 0.161 0.245 0.022 0.197 0.002 0.062 7.513 0.266 . . . 0.8122 0.4401 0.8221 0.7437 0.7843 0.8632 0.8666 0.8083 0.7900 0.7401 0.4497 0.8246 0.7417 0.8120 0.8578 0.8631 0.8238 hom 3153.39 102 14 64522843 . A G 3153.39 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.92;VQSLOD=14.1013;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3186,259,0 14 64548193 64548193 T C exonic SYNE2 synonymous SNV SYNE2:NM_015180:exon57:c.T11379C:p.L3793L,SYNE2:NM_182914:exon57:c.T11379C:p.L3793L 0.002 . . . 0.0089 0.001 0.0037 0.0009 0.0047 0 0.0070 0.0047 0.0044 0.0013 0.0029 0.0014 0.0037 0.011 0.016 rs149391344 . . Benign|Likely benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000319082.1|RCV000327486.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0007 0.0029 0.0080 0 0.0073 0.0040 0.0066 0.0014 0.0042 0.0008 0.0024 0.0099 0 0.0072 0.0061 0.0020 het 1657.27 120 14 64548193 . T C 1657.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.732;DP=120;Dels=0.00;FS=3.380;HRun=1;HaplotypeScore=0.8941;MQ=59.81;MQ0=0;MQRankSum=0.887;QD=13.81;ReadPosRankSum=-1.549;VQSLOD=4.4439;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,59:120:99:1687,0,1707 14 64612845 64612845 C T exonic SYNE2 synonymous SNV SYNE2:NM_015180:exon84:c.C15543T:p.I5181I,SYNE2:NM_182914:exon84:c.C15543T:p.I5181I 0.44 0.57 0.4 0.5 0.35 0.33 0.3709 0.5463 0.4028 0.5121 0.3525 0.3324 0.3493 0.3280 0.41 0.54 0.34 0.49 0.34 rs11629287 COSM1128227 1(prostate) Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118519.1|RCV000273835.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3660 0.5397 0.3853 0.3892 0.5133 0.3488 0.3278 0.3449 0.3243 0.4080 0.5322 0.3842 0.4106 0.5155 0.3522 0.3422 0.3520 het 609.40 56 14 64612845 . C T 609.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.719;DP=56;Dels=0.00;FS=1.035;HRun=2;HaplotypeScore=1.8893;MQ=59.25;MQ0=0;MQRankSum=0.330;QD=10.88;ReadPosRankSum=-1.813;VQSLOD=6.2828;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,25:56:99:639,0,891 14 64612858 64612858 C A exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon84:c.C15556A:p.L5186M,SYNE2:NM_182914:exon84:c.C15556A:p.L5186M 0.63 0.92 0.51 0.64 0.46 0.5 0.5031 0.8630 0.4955 0.6524 0.4269 0.4356 0.4878 0.5065 0.58 0.85 0.44 0.67 0.55 rs10151658 COSM1128226 1(prostate) Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118520.1|RCV000331267.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . 0.711 0.070 T 0.002 0.182 B 0.01 0.170 B 0.326 0.142 N 0.000 0.588 P 0.32 0.103 N 0.71 0.512 T 0.09 0.059 N 0.087 0.121 -1.009 0.273 T 0.000 0.000 T . . . -0.170 0.078 1.263 0.518 0.046 0.070 0.129 N c -1.396 -1.308 0.565 0.214 0.732 0.924 0 -2.1 0.068 -0.568 0.060 -0.727 0.036 0.064 0.217 0.929 0.403 12.081 0.528 . ENSG00000258824.2|ENSG00000100714.11|ENSG00000140009.14|ENSG00000272909.1|ENSG00000100714.11|ENSG00000140009.14 Artery_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.4956 0.8674 0.4819 0.5925 0.6556 0.4241 0.4280 0.4797 0.5048 0.5669 0.8514 0.4952 0.5762 0.6646 0.4248 0.4338 0.4735 het 639.50 61 14 64612858 . C A 639.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.674;DP=61;Dels=0.00;FS=2.210;HRun=0;HaplotypeScore=1.8237;MQ=59.33;MQ0=0;MQRankSum=1.411;QD=10.31;ReadPosRankSum=0.068;VQSLOD=6.5840;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,24:61:99:669,0,1024 14 64637147 64637147 C A exonic SYNE2 synonymous SNV SYNE2:NM_015180:exon94:c.C17202A:p.L5734L,SYNE2:NM_182914:exon94:c.C17202A:p.L5734L 0.37 0.35 0.31 0.55 0.34 0.27 0.3510 0.3813 0.2824 0.5817 0.3578 0.3389 0.3193 0.3018 0.34 0.37 0.33 0.4 0.28 rs7161192 . . Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118525.1|RCV000390655.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3283 0.3563 0.2601 0.3755 0.5716 0.3285 0.3155 0.3150 0.2858 0.3496 0.3571 0.2661 0.3867 0.5821 0.3315 0.3288 0.3418 het 798.91 59 14 64637147 . C A 798.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.298;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9973;MQ=58.89;MQ0=0;MQRankSum=-0.008;QD=13.54;ReadPosRankSum=-1.229;VQSLOD=5.9679;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,33:59:99:829,0,694 14 64656855 64656855 T C exonic SYNE2 synonymous SNV SYNE2:NM_015180:exon99:c.T17938C:p.L5980L,SYNE2:NM_182914:exon99:c.T17938C:p.L5980L 0.49 0.8 0.4 0.36 0.37 0.38 0.3943 0.7543 0.3568 0.3801 0.2866 0.3590 0.3711 0.3884 0.49 0.75 0.36 0.56 0.41 rs2256191 COSM3999321;COSM3999320 3(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118528.1|RCV000272822.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3861 0.7553 0.3566 0.4953 0.3842 0.2846 0.3546 0.3678 0.3917 0.4513 0.7463 0.3792 0.4768 0.3829 0.2639 0.3408 0.3493 het 1502.87 110 14 64656855 . T C 1502.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.773;DP=110;Dels=0.00;FS=4.828;HRun=0;HaplotypeScore=5.3679;MQ=58.56;MQ0=0;MQRankSum=-1.805;QD=13.66;ReadPosRankSum=0.130;VQSLOD=4.0094;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,58:110:99:1533,0,1275 14 64686125 64686125 G T exonic SYNE2 synonymous SNV SYNE2:NM_182910:exon3:c.G381T:p.L127L,SYNE2:NM_182913:exon5:c.G759T:p.L253L,SYNE2:NM_015180:exon109:c.G19788T:p.L6596L,SYNE2:NM_182914:exon110:c.G19857T:p.L6619L 0.21 0.21 0.2 0.11 0.27 0.26 0.2409 0.2156 0.1237 0.0957 0.2346 0.2817 0.2434 0.2525 0.26 0.22 0.28 0.21 0.22 rs35648226 COSM4419657;COSM4419655;COSM4419656 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Emery-Dreifuss_muscular_dystrophy RCV000118530.1|RCV000289541.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0410189:ORPHA261:111508004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2365 0.2068 0.1356 0.3335 0.0971 0.2294 0.2805 0.2459 0.2529 0.2337 0.2149 0.1711 0.3444 0.1025 0.2156 0.2638 0.2428 het 1159.35 87 14 64686125 . G T 1159.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.523;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6992;MQ=59.79;MQ0=0;MQRankSum=0.940;QD=13.33;ReadPosRankSum=0.599;VQSLOD=6.0307;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,46:87:99:1189,0,1203 14 64687258 64687258 A T exonic SYNE2 nonsynonymous SNV SYNE2:NM_182910:exon4:c.A488T:p.Q163L,SYNE2:NM_182913:exon6:c.A866T:p.Q289L,SYNE2:NM_015180:exon110:c.A19895T:p.Q6632L,SYNE2:NM_182914:exon111:c.A19964T:p.Q6655L 0.0014 . 0.0029 . 0.004 0.001 0.0022 0.0006 0.0030 0 0.0005 0.0030 0.0022 0.0013 0.002 0.0007 0.0027 0.011 0.0082 rs149978500 . . Likely benign|Uncertain significance Emery-Dreifuss_muscular_dystrophy|not_specified RCV000309660.1|RCV000341991.1 MedGen:Orphanet:SNOMED_CT|MedGen C0410189:ORPHA261:111508004|CN169374 . . . . . . 0.043 0.421 D 0.078 0.311 B 0.063 0.390 B 0.819 0.092 N 1.000 0.548 D 2.5 0.730 M 0.55 0.547 T -5.95 0.905 D 0.187 0.349 -0.893 0.487 T 0.176 0.520 T 0.052 0.651 D 3.547 0.484 23.1 0.613 0.065 0.263 0.227 N c -0.571 -0.609 1.000 0.747 0.722 0.854 0 2.37 0.282 0.720 0.254 1.199 0.960 0.059 0.215 0.078 0.180 4.714 0.122 . . . 0.0022 0.0006 0.0027 0.0058 0 0.0002 0.0030 0.0024 0.0012 0.0016 0.0005 0.0048 0.0132 0 0 0.0026 0 het 1046.82 87 14 64687258 . A T 1046.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.621;DP=87;Dels=0.00;FS=1.819;HRun=0;HaplotypeScore=3.8814;MQ=59.23;MQ0=0;MQRankSum=-0.166;QD=12.03;ReadPosRankSum=-2.568;VQSLOD=3.3177;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,43:87:99:1077,0,1188 14 64882380 64882380 A G exonic MTHFD1 nonsynonymous SNV MTHFD1:NM_005956:exon6:c.A401G:p.K134R 0.82 0.86 0.91 0.64 0.8 0.92 0.8331 0.8422 0.9127 0.6744 0.7806 0.8212 0.8502 0.9225 0.83 0.85 0.82 0.89 0.75 rs1950902 COSM1180585 1(upper_aerodigestive_tract) Benign not_specified RCV000455974.1 MedGen CN169374 . . . . . . 0.564 0.063 T 0.003 0.139 B 0.009 0.170 B 0.000 0.843 D 3.898e-06 0.588 P . . . 0.48 0.560 T 0.0 0.070 N 0.22 0.450 -1.004 0.286 T 0.000 0.000 T . . . 3.343 0.460 22.9 0.988 0.458 0.991 0.917 D c -0.112 0.054 1.000 0.747 0.707 0.730 0 5.06 0.677 8.824 0.916 1.199 0.960 1.000 0.715 0.994 0.587 15.128 0.721 NAD(P)-binding domain|Tetrahydrofolate dehydrogenase/cyclohydrolase\x2c NAD(P)-binding domain . . 0.8349 0.8482 0.9093 0.8399 0.6676 0.7842 0.8213 0.8375 0.9236 0.8122 0.8470 0.9222 0.8377 0.6340 0.7799 0.8123 0.8075 hom 2679.47 88 14 64882380 . A G 2679.47 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7046;MQ=59.43;MQ0=0;QD=30.45;VQSLOD=8.7470;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2712,211,0 14 64908845 64908845 G A exonic MTHFD1 nonsynonymous SNV MTHFD1:NM_005956:exon20:c.G1958A:p.R653Q 0.34 0.16 0.54 0.2 0.43 0.5 0.4354 0.2117 0.5850 0.2233 0.4502 0.4492 0.4196 0.5212 0.38 0.21 0.46 0.41 0.47 rs2236225 COSM3999329;COSM3999330 2(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign Neural_tube_defects\x2c_folate-sensitive\x2c_susceptibility_to|not_specified RCV000014603.2|RCV000455528.1 MedGen CN169374 . . . . . . 0.174 0.225 T 0.33 0.315 B 0.026 0.195 B 0.000 0.843 D 0.029 0.388 P 0.725 0.188 N 1.98 0.219 T -1.01 0.266 N 0.398 0.457 -0.909 0.470 T 0.000 0.000 T . . . 3.547 0.484 23.1 0.997 0.831 0.926 0.559 D c 0.003 0.153 1.000 0.747 0.707 0.730 0 4.97 0.653 5.263 0.651 0.135 0.219 1.000 0.715 0.995 0.604 5.933 0.183 P-loop containing nucleoside triphosphate hydrolase ENSG00000259116.1|ENSG00000126804.9|ENSG00000126804.9|ENSG00000126804.9|ENSG00000259116.1|ENSG00000259116.1|ENSG00000126804.9|ENSG00000089775.7|ENSG00000126804.9|ENSG00000259116.1|ENSG00000126804.9|ENSG00000259116.1|ENSG00000126804.9 Adipose_Subcutaneous|Artery_Aorta|Colon_Transverse|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.4453 0.2090 0.5838 0.4391 0.2275 0.4503 0.4488 0.4373 0.5207 0.3815 0.2086 0.5624 0.4338 0.2271 0.4731 0.4612 0.4593 het 1853.81 142 14 64908845 . G A 1853.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.656;DP=142;Dels=0.00;FS=1.357;HRun=0;HaplotypeScore=5.6518;MQ=58.88;MQ0=0;MQRankSum=1.161;QD=13.06;ReadPosRankSum=-1.313;VQSLOD=5.0535;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,70:142:99:1884,0,1821 14 64935411 64935411 C T exonic AKAP5 nonsynonymous SNV AKAP5:NM_004857:exon2:c.C299T:p.P100L 0.072 0.003 0.082 . 0.14 0.16 0.1189 0.0290 0.0710 0.0008 0.1122 0.1502 0.1341 0.1444 0.11 0.033 0.15 0.087 0.15 rs2230491 . . . . . . . . . . . . . 0.342 0.126 T 0.001 0.067 B 0.002 0.063 B 0.748 0.065 N 1 0.090 P 0.425 0.126 N 0.65 0.527 T -7.18 0.942 D 0.043 0.032 -1.060 0.117 T 0.000 0.002 T . . . -0.608 0.050 0.119 0.480 0.039 0.039 0.092 N c -1.405 -1.430 1.000 0.480 0.615 0.372 0 -2.52 0.059 -0.732 0.050 -1.550 0.010 0.000 0.063 0.000 0.016 1.597 0.025 Protein kinase A anchoring\x2c WSK motif ENSG00000259116.1|ENSG00000165807.3|ENSG00000126803.8|ENSG00000259116.1|ENSG00000259116.1|ENSG00000259116.1|ENSG00000259116.1|ENSG00000259116.1 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.1176 0.0237 0.0720 0.1693 0.0009 0.1092 0.1507 0.1313 0.1459 0.0964 0.0290 0.1100 0.1722 0 0.0994 0.1415 0.1191 het 2534.05 151 14 64935411 . C T 2534.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.952;DP=151;Dels=0.00;FS=1.352;HRun=0;HaplotypeScore=2.7404;MQ=59.45;MQ0=0;MQRankSum=-0.704;QD=16.78;ReadPosRankSum=0.190;VQSLOD=6.1477;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,90:151:99:2564,0,1581 14 64935720 64935720 C T exonic AKAP5 nonsynonymous SNV AKAP5:NM_004857:exon2:c.C608T:p.T203I 0.98 1. 1. 0.94 1. 0.98 0.9942 1 0.9999 0.9464 1 0.9998 0.9967 0.9864 1. 1. 1. 0.97 0.98 rs1256149 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.185 0.032 N 1 0.090 P -1.085 0.010 N 1.99 0.217 T 2.72 0.002 N 0.006 0.007 -0.992 0.321 T 0.000 0.000 T . . . -1.043 0.030 0.013 0.843 0.147 0.001 0.007 N c -1.770 -1.770 1.000 0.747 0.615 0.372 0 -7.35 0.013 -0.294 0.083 -0.691 0.038 0.000 0.063 0.005 0.090 10.623 0.445 . . . 0.9943 0.9999 0.9999 0.9993 0.9471 1 0.9998 0.9971 0.9857 0.9969 0.9998 1 1 0.9481 1 0.9997 0.9959 hom 6454.44 206 14 64935720 . C T 6454.44 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7157;MQ=59.48;MQ0=0;QD=31.33;VQSLOD=8.2448;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6454,518,0 14 64954410 64954410 G A exonic ZBTB25 nonsynonymous SNV ZBTB25:NM_006977:exon3:c.C539T:p.T180I,ZBTB25:NM_001304507:exon6:c.C539T:p.T180I 0.0004 . . . . 0.002 0.0008 9.628e-05 0 0 0.0002 0.0011 0 0.0013 0.0008 0.0002 0.0012 . . rs151164177 . . . . . . . . . . . . . 0.205 0.200 T 0.09 0.236 B 0.029 0.203 B 0.569 0.112 N 1 0.229 N 1.39 0.351 L 1.85 0.245 T -0.7 0.199 N 0.167 0.202 -1.029 0.207 T 0.046 0.196 T 0.005 0.126 T 1.089 0.199 11.16 0.994 0.603 0.690 0.337 D c -0.445 -0.288 0.995 0.341 0.707 0.730 0 4.17 0.481 2.652 0.461 0.079 0.188 0.161 0.236 0.995 0.604 17.636 0.880 . . . 0.0008 6.541e-05 0.0001 0.0004 0 0.0002 0.0013 0.0002 0.0012 0.0006 0 0 0 0 0.0003 0.0011 0.0010 het 4626.75 250 14 64954410 . G A 4626.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.195;DP=250;DS;Dels=0.00;FS=2.866;HRun=1;HaplotypeScore=4.6490;MQ=59.63;MQ0=0;MQRankSum=0.942;QD=18.51;ReadPosRankSum=0.578;VQSLOD=3.0731;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,137:250:99:3949,0,3204 14 64988279 64988279 A G exonic ZBTB1 synonymous SNV ZBTB1:NM_001123329:exon2:c.A57G:p.E19E,ZBTB1:NM_014950:exon2:c.A57G:p.E19E 0.16 0.04 0.13 0.21 0.23 0.23 0.1938 0.0775 0.1070 0.1972 0.2279 0.2210 0.2196 0.2013 0.17 0.079 0.22 0.12 0.17 rs28626711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1926 0.0765 0.1121 0.2053 0.1938 0.2214 0.2233 0.2062 0.1993 0.1741 0.0823 0.1567 0.2152 0.1949 0.2207 0.2131 0.1965 het 2005.18 168 14 64988279 . A G 2005.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.419;DP=168;Dels=0.00;FS=4.542;HRun=0;HaplotypeScore=10.1179;MQ=59.33;MQ0=0;MQRankSum=0.182;QD=11.94;ReadPosRankSum=-1.261;VQSLOD=3.7043;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,82:168:99:2035,0,2219 14 64988924 64988924 T C exonic ZBTB1 synonymous SNV ZBTB1:NM_001123329:exon2:c.T702C:p.H234H,ZBTB1:NM_014950:exon2:c.T702C:p.H234H 0.16 0.04 0.13 0.21 0.23 0.23 0.1937 0.0777 0.1071 0.1972 0.2280 0.2209 0.2196 0.1998 0.17 0.079 0.22 0.12 0.18 rs10133411 COSM1717713;COSM1717712 1(haematopoietic_and_lymphoid_tissue);1(adrenal_gland) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1926 0.0763 0.1121 0.2053 0.1938 0.2215 0.2232 0.2059 0.1993 0.1740 0.0822 0.1579 0.2152 0.1965 0.2209 0.2127 0.1959 het 565.58 80 14 64988924 . T C 565.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.121;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8466;MQ=58.42;MQ0=0;MQRankSum=-0.119;QD=7.07;ReadPosRankSum=-0.810;VQSLOD=5.1043;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,31:80:99:596,0,1435 14 65008251 65008251 C T exonic HSPA2 synonymous SNV HSPA2:NM_021979:exon1:c.C684T:p.D228D 0.65 0.4 0.7 0.86 0.68 0.72 0.6924 0.4460 0.7575 0.8526 0.8285 0.6838 0.7206 0.6961 0.6 0.44 0.68 0.62 0.66 rs1063391 COSM5619398 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7027 0.4360 0.7534 0.6570 0.8559 0.8311 0.6806 0.6897 0.6983 0.6448 0.4335 0.7560 0.6457 0.8541 0.8351 0.6888 0.7265 hom 3997.56 129 14 65008251 . C T 3997.56 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=59.17;MQ0=0;QD=30.99;VQSLOD=9.4260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3997,340,0 14 65031534 65031534 C T exonic PPP1R36 nonsynonymous SNV PPP1R36:NM_172365:exon4:c.C248T:p.T83I 0.62 0.72 0.61 0.66 0.49 0.57 0.5697 0.6984 0.6590 0.6667 0.6306 0.5147 0.5496 0.5741 0.57 0.69 0.51 0.64 0.52 rs6573560 . . . . . . . . . . . . . 0.381 0.111 T 0.0 0.026 B 0.0 0.013 B 0.881 0.087 N 1 0.090 P -0.485 0.027 N 1.28 0.360 T 0.37 0.036 N 0.021 0.005 -0.956 0.400 T 0.000 0.000 T . . . -0.627 0.048 0.107 0.466 0.037 0.001 0.005 N c -1.575 -1.536 0.202 0.181 0.554 0.283 0 -4.04 0.037 -1.552 0.023 -0.687 0.038 0.007 0.175 0.006 0.095 1.768 0.028 . ENSG00000259116.1|ENSG00000126804.9|ENSG00000259116.1|ENSG00000126804.9|ENSG00000089775.7|ENSG00000259116.1|ENSG00000126804.9|ENSG00000165807.3|ENSG00000126804.9 Adipose_Subcutaneous|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.5688 0.6975 0.6546 0.4821 0.6670 0.6379 0.5072 0.5354 0.5700 0.5976 0.6902 0.6313 0.4470 0.6685 0.6511 0.5264 0.5726 het 3152.40 250 14 65031534 . C T 3152.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.361;DP=250;DS;Dels=0.00;FS=11.653;HRun=1;HaplotypeScore=11.4130;MQ=59.32;MQ0=0;MQRankSum=-0.944;QD=12.61;ReadPosRankSum=1.034;VQSLOD=2.2280;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,117:250:99:3182,0,3877 14 65241228 65241228 A G exonic SPTB synonymous SNV SPTB:NM_000347:exon23:c.T4860C:p.I1620I,SPTB:NM_001024858:exon23:c.T4860C:p.I1620I 0.48 0.85 0.32 0.46 0.27 0.33 0.3722 0.7722 0.4211 0.4674 0.4444 0.2929 0.3039 0.2994 0.4 0.73 0.23 0.62 0.057 rs229592 . . Benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Dominant|Elliptocytosis RCV000249707.1|RCV000259957.1|RCV000317563.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN169374|CN239455|HP:0004445:C0427480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3222 0.7680 0.3255 0.2857 0.4683 0.3424 0.2442 0.3205 0.2984 0.4163 0.7545 0.3385 0.2914 0.4584 0.3279 0.2488 0.3122 het 154.56 14 14 65241228 . A G 154.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.276;DP=14;Dels=0.00;FS=1.987;HRun=0;HaplotypeScore=0.7340;MQ=58.20;MQ0=0;MQRankSum=0.068;QD=11.04;ReadPosRankSum=-1.027;VQSLOD=5.4807;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:185,0,164 14 65242044 65242044 C T exonic SPTB synonymous SNV SPTB:NM_000347:exon22:c.G4641A:p.A1547A,SPTB:NM_001024858:exon22:c.G4641A:p.A1547A 0.41 0.77 0.25 0.37 0.19 0.31 0.2680 0.6982 0.2726 0.3829 0.2602 0.1849 0.2517 0.2687 0.35 0.68 0.18 0.52 0.14 rs184528 COSM3754043;COSM3754042 1(liver);1(large_intestine) Benign|Likely benign|Likely benign not_specified|Elliptocytosis|Spherocytosis\x2c_Dominant RCV000253980.1|RCV000297147.1|RCV000405536.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|HP:0004445:C0427480|CN239455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2559 0.6989 0.2570 0.2409 0.3758 0.2528 0.1754 0.2533 0.2643 0.3377 0.6859 0.2823 0.2550 0.3739 0.2437 0.1647 0.2332 het 748.13 44 14 65242044 . C T 748.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.542;DP=44;Dels=0.00;FS=4.454;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=0.275;QD=17.00;ReadPosRankSum=-0.394;VQSLOD=5.6906;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,26:44:99:778,0,444 14 65245956 65245956 C T exonic SPTB synonymous SNV SPTB:NM_000347:exon21:c.G4482A:p.V1494V,SPTB:NM_001024858:exon21:c.G4482A:p.V1494V 0.41 0.7 0.17 0.35 0.24 0.43 0.2809 0.6134 0.1286 0.3199 0.2299 0.2329 0.2529 0.3751 0.36 0.61 0.24 0.4 0.2 rs1741488 COSM3754045;COSM3754044 1(urinary_tract);1(thyroid);1(large_intestine) Benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Dominant|Elliptocytosis RCV000247080.1|RCV000295488.1|RCV000387410.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN169374|CN239455|HP:0004445:C0427480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2663 0.6209 0.1357 0.2631 0.3278 0.2225 0.2285 0.2593 0.3728 0.3333 0.6107 0.1535 0.25 0.3319 0.2344 0.2150 0.2219 het 651.21 57 14 65245956 . C T 651.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.661;DP=57;Dels=0.00;FS=3.850;HRun=0;HaplotypeScore=3.5884;MQ=58.19;MQ0=0;MQRankSum=-0.104;QD=11.42;ReadPosRankSum=0.967;VQSLOD=5.1297;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,27:57:99:681,0,690 14 65245962 65245962 A G exonic SPTB synonymous SNV SPTB:NM_000347:exon21:c.T4476C:p.L1492L,SPTB:NM_001024858:exon21:c.T4476C:p.L1492L 0.41 0.7 0.17 0.35 0.24 0.43 0.2814 0.6125 0.1288 0.3217 0.2312 0.2334 0.2558 0.3750 0.36 0.6 0.24 0.4 0.2 rs1741487 COSM1748933;COSM1748932 1(urinary_tract);1(thyroid);1(large_intestine);1(biliary_tract) Benign|Likely benign|Likely benign not_specified|Elliptocytosis|Spherocytosis\x2c_Dominant RCV000243924.1|RCV000352735.1|RCV000406879.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|HP:0004445:C0427480|CN239455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2658 0.6198 0.1355 0.2631 0.3276 0.2227 0.2279 0.2585 0.3725 0.3332 0.6107 0.1531 0.25 0.3315 0.2345 0.2149 0.2219 het 607.31 57 14 65245962 . A G 607.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.585;DP=57;Dels=0.00;FS=2.332;HRun=0;HaplotypeScore=2.7217;MQ=58.19;MQ0=0;MQRankSum=0.441;QD=10.65;ReadPosRankSum=1.498;VQSLOD=5.3741;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,26:57:99:637,0,770 14 65246623 65246623 T C exonic SPTB synonymous SNV SPTB:NM_000347:exon20:c.A4293G:p.R1431R,SPTB:NM_001024858:exon20:c.A4293G:p.R1431R 0.45 0.71 0.22 0.38 0.33 0.45 0.3494 0.6378 0.1803 0.3648 0.3072 0.3221 0.3108 0.4083 0.42 0.62 0.32 0.45 0.2 rs1626923 . . Benign|Likely benign|Likely benign not_specified|Elliptocytosis|Spherocytosis\x2c_Dominant RCV000251719.1|RCV000309698.1|RCV000390547.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|HP:0004445:C0427480|CN239455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3356 0.6396 0.1891 0.3289 0.3622 0.2990 0.3222 0.3281 0.4084 0.4009 0.6280 0.2100 0.3146 0.3548 0.3037 0.3156 0.2959 het 2582.77 218 14 65246623 . T C 2582.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.262;DP=218;DS;Dels=0.00;FS=3.557;HRun=1;HaplotypeScore=12.2049;MQ=58.99;MQ0=0;MQRankSum=-0.827;QD=11.85;ReadPosRankSum=0.397;VQSLOD=3.3055;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,98:218:99:2613,0,3156 14 65253232 65253232 T C exonic SPTB nonsynonymous SNV SPTB:NM_000347:exon15:c.A3451G:p.N1151D,SPTB:NM_001024858:exon15:c.A3451G:p.N1151D 0.47 0.7 0.29 0.4 0.37 0.46 0.3381 0.6287 0.1667 0.3498 0.3088 0.3077 0.3054 0.4035 0.4 0.61 0.3 0.4 0.26 rs77806 . . Benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Dominant|Elliptocytosis RCV000251016.1|RCV000276049.1|RCV000370587.1 MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN169374|CN239455|HP:0004445:C0427480 . . . . . . 0.457 0.088 T 0.0 0.026 B 0.001 0.080 B 0.020 0.271 N 1.000 0.202 P -0.805 0.016 N 1.44 0.327 T -0.12 0.117 N 0.024 0.015 -0.975 0.361 T 0.000 0.000 T . . . 0.301 0.123 5.701 0.685 0.084 0.027 0.073 N c -0.910 -0.755 1.000 0.517 0.615 0.372 0 4.89 0.632 0.678 0.248 0.063 0.168 0.748 0.289 0.536 0.277 7.317 0.255 . . . 0.3218 0.6284 0.1722 0.3123 0.3460 0.2874 0.3065 0.3149 0.4028 0.3816 0.6079 0.1866 0.2980 0.3453 0.2858 0.2956 0.2791 het 1042.45 76 14 65253232 . T C 1042.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.194;DP=76;Dels=0.00;FS=11.299;HRun=2;HaplotypeScore=3.7192;MQ=58.59;MQ0=0;MQRankSum=0.048;QD=13.72;ReadPosRankSum=-2.344;VQSLOD=2.8229;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,44:76:99:1072,0,676 14 67671482 67671482 - T exonic FAM71D frameshift insertion FAM71D:NM_173526:exon5:c.588_589insT:p.T197Yfs*29 0.014 0.0015 0.04 . 0.035 0.0031 0.0183 0.0040 0.0111 0.0001 0.0073 0.0284 0.0220 0.0050 0.019 0.0047 0.027 . . rs151256654 COSM4603422 1(pancreas);1(upper_aerodigestive_tract);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0189 0.0035 0.0135 0.0810 0.0001 0.0066 0.0261 0.0215 0.0055 0.0160 0.0052 0.0227 0.1391 0 0.0080 0.0231 0.0143 het 3233.06 191 14 67671482 . C CT 3233.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=11.872;DP=191;FS=0.569;HRun=0;HaplotypeScore=1047.8152;MQ=57.62;MQ0=0;MQRankSum=-1.140;QD=16.84;ReadPosRankSum=1.081;set=variant2 GT:AD:DP:GQ:PL 0/1:98,94:191:99:3272,0,3351 14 67671483 67671483 A C exonic FAM71D nonsynonymous SNV FAM71D:NM_173526:exon5:c.A589C:p.T197P 0.014 0.0015 0.04 . 0.035 0.0031 0.0183 0.0040 0.0111 0.0001 0.0073 0.0284 0.0220 0.0050 . . . . . rs56352800 COSM4601478 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . 0.999 0.764 D 0.996 0.832 D . . . . . . 2.05 0.567 M . . . . . . 0.524 0.566 . . . . . . . . . 3.689 0.500 23.3 0.994 0.622 0.957 0.654 D n 1.154 0.038 0.015 0.127 0.487 0.133 0 3.66 0.409 3.817 0.551 1.140 0.893 0.995 0.385 0.764 0.325 8.951 0.348 . . . 0.0189 0.0035 0.0135 0.0810 0.0001 0.0066 0.0261 0.0215 0.0055 0.0160 0.0052 0.0227 0.1391 0 0.0080 0.0231 0.0143 het 2397.65 192 14 67671483 . A C 2397.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.687;DP=192;Dels=0.00;FS=0.575;HRun=1;HaplotypeScore=3.9308;MQ=57.62;MQ0=0;MQRankSum=-0.331;QD=12.49;ReadPosRankSum=0.822;VQSLOD=4.0917;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,95:192:99:2428,0,2630 14 67671485 67671485 A T exonic FAM71D synonymous SNV FAM71D:NM_173526:exon5:c.A591T:p.T197T 0.014 0.0015 0.04 . 0.035 0.0031 0.0183 0.0040 0.0111 0.0001 0.0073 0.0284 0.0220 0.0050 . . . . . rs55981040 COSM3773707 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0189 0.0035 0.0135 0.0810 0.0001 0.0066 0.0261 0.0215 0.0055 0.0160 0.0052 0.0227 0.1391 0 0.0080 0.0231 0.0143 het 2526.18 197 14 67671485 . A T 2526.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.520;DP=197;Dels=0.00;FS=1.172;HRun=0;HaplotypeScore=3.9308;MQ=57.69;MQ0=0;MQRankSum=-1.761;QD=12.82;ReadPosRankSum=0.456;VQSLOD=3.6775;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,98:197:99:2556,0,2719 14 68029313 68029313 G A exonic PLEKHH1 nonsynonymous SNV PLEKHH1:NM_020715:exon7:c.G965A:p.R322Q 0.17 0.014 0.18 0.29 0.22 0.22 0.2131 0.0414 0.1744 0.2698 0.2517 0.2269 0.2141 0.2367 0.16 0.039 0.21 0.18 . rs2236235 COSM3754051;COSM3754050 1(large_intestine) . . . . . . . . . . . 0.182 0.218 T 0.016 0.161 B 0.004 0.093 B 0.002 0.384 N 0.095 0.362 P 0.895 0.225 L 1.97 0.221 T -0.52 0.162 N 0.032 0.012 -0.948 0.414 T 0.000 0.000 T . . . 1.621 0.256 13.97 0.975 0.338 0.859 0.448 D c -0.597 -0.590 0.034 0.141 0.707 0.730 0 2.26 0.273 2.826 0.476 0.106 0.201 0.999 0.424 0.032 0.149 8.094 0.298 . . . 0.2097 0.0364 0.1685 0.2212 0.2689 0.2455 0.2218 0.2035 0.2343 0.1693 0.0380 0.1543 0.2053 0.2571 0.2404 0.2178 0.2014 het 422.40 20 14 68029313 . G A 422.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.278;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=58.84;MQ0=0;MQRankSum=1.526;QD=21.12;ReadPosRankSum=0.619;VQSLOD=5.9555;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,14:20:99:452,0,159 14 68042574 68042574 A G exonic PLEKHH1 nonsynonymous SNV PLEKHH1:NM_020715:exon16:c.A2204G:p.H735R 0.48 0.39 0.56 0.46 0.5 0.54 0.5193 0.3980 0.5724 0.4492 0.6163 0.5193 0.5337 0.5504 0.46 0.37 0.5 0.46 . rs11158685 COSM3999347;COSM3999348 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.318 0.143 N 1 0.090 P -1.195 0.008 N 2.02 0.211 T 2.41 0.003 N 0.009 0.001 -0.921 0.454 T 0.000 0.000 T . . . -2.247 0.005 0.001 0.587 0.059 0.039 0.092 N c -1.763 -1.676 0.985 0.307 0.719 0.830 0 -2.53 0.059 -0.222 0.091 -1.283 0.014 0.000 0.063 0.035 0.152 15.213 0.728 PH domain-like|Pleckstrin homology domain ENSG00000100564.4 Testis 0.5225 0.3919 0.5729 0.5325 0.4556 0.6190 0.5096 0.5214 0.5438 0.4860 0.3863 0.5286 0.4967 0.4665 0.6203 0.5095 0.5256 hom 1872.09 70 14 68042574 . A G 1872.09 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.126;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7319;MQ=59.34;MQ0=0;MQRankSum=-0.126;QD=26.74;ReadPosRankSum=-0.879;VQSLOD=7.3617;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,68:70:99:1905,136,0 14 68045935 68045935 G A exonic PLEKHH1 synonymous SNV PLEKHH1:NM_020715:exon21:c.G2934A:p.S978S 0.65 0.59 0.76 0.5 0.8 0.64 0.7531 0.6296 0.7701 0.5265 0.8547 0.8062 0.7779 0.6714 0.75 0.65 0.79 0.69 . rs6573781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7461 0.6142 0.7509 0.6737 0.5116 0.8557 0.8051 0.7782 0.6601 0.7470 0.6239 0.7279 0.6358 0.5111 0.8610 0.8175 0.7949 hom 1064.09 36 14 68045935 . G A 1064.09 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.35;MQ0=0;QD=29.56;VQSLOD=8.0934;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:90.25:1097,90,0 14 68234539 68234539 T C exonic ZFYVE26 nonsynonymous SNV ZFYVE26:NM_015346:exon31:c.A5672G:p.N1891S 0.9 0.83 0.89 0.86 0.99 0.98 0.9546 0.8483 0.8880 0.8599 0.9924 0.9858 0.9670 0.9760 0.94 0.86 0.99 0.88 0.98 rs3742883 . . other|Benign not_specified|Spastic_Paraplegia\x2c_Recessive RCV000118901.3|RCV000318199.1 MedGen|MedGen CN169374|CN239433 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.333 0.041 N 1 0.090 P . . . 1.94 0.253 T -0.12 0.088 N 0.005 0.000 -1.001 0.297 T 0.000 0.000 T . . . -1.901 0.009 0.002 0.115 0.002 0.024 0.067 N c -1.506 -1.543 0.974 0.294 0.707 0.730 0 -2.67 0.057 -0.377 0.075 -1.580 0.009 0.001 0.137 0.020 0.134 7.608 0.271 . . . 0.9551 0.8461 0.8932 0.9963 0.8582 0.9932 0.9863 0.9690 0.9745 0.9386 0.8448 0.8914 1 0.8585 0.9920 0.9879 0.9796 hom 3770.27 120 14 68234539 . T C 3770.27 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5862;MQ=57.90;MQ0=0;QD=31.42;VQSLOD=7.8512;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3770,289,0 14 68257352 68257352 T A exonic ZFYVE26 nonsynonymous SNV ZFYVE26:NM_015346:exon15:c.A2692T:p.T898S 0.043 0.0061 0.065 . 0.12 0.047 0.0903 0.0230 0.0466 0.0007 0.1575 0.1211 0.1024 0.0582 0.089 0.028 0.12 0.033 0.057 rs17192170 COSM5880954 1(soft_tissue) Likely benign|Benign|Benign Spastic_Paraplegia\x2c_Recessive|not_specified|Spastic_paraplegia RCV000392341.1|RCV000434229.1|RCV000461035.1 MedGen|MedGen|MedGen CN239433|CN169374|C0037772 . . . . . . 0.382 0.111 T 0.041 0.230 B 0.027 0.198 B 0.113 0.193 N 0.705 0.300 P 0.795 0.197 N 1.73 0.288 T -0.1 0.085 N 0.036 0.157 -1.034 0.193 T 0.001 0.003 T . . . 1.457 0.238 13.08 0.925 0.214 0.950 0.629 D c -0.540 -0.400 0.962 0.285 0.722 0.854 0 2.38 0.283 1.259 0.323 0.123 0.211 1.000 0.715 0.844 0.352 2.477 0.043 . . . 0.0923 0.0212 0.0514 0.0821 0.0006 0.1619 0.1252 0.0930 0.0566 0.0938 0.0229 0.0621 0.0993 0 0.1615 0.1299 0.1133 het 2355.04 182 14 68257352 . T A 2355.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.457;DP=182;Dels=0.00;FS=0.601;HRun=0;HaplotypeScore=2.9041;MQ=59.28;MQ0=0;MQRankSum=0.259;QD=12.94;ReadPosRankSum=-2.380;VQSLOD=4.9346;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,85:182:99:2385,0,2512 14 68264867 68264867 A G exonic ZFYVE26 synonymous SNV ZFYVE26:NM_015346:exon11:c.T2112C:p.P704P 0.77 0.72 0.77 0.97 0.62 0.79 0.7112 0.6850 0.8080 0.9777 0.7184 0.6466 0.6971 0.7788 0.66 0.68 0.64 0.77 0.61 rs12891164 . . Benign Spastic_paraplegia RCV000206048.3 MedGen C0037772 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7156 0.6868 0.8033 0.5727 0.9777 0.7166 0.6487 0.6821 0.7809 0.6900 0.6865 0.7823 0.63 0.9840 0.7191 0.6490 0.6965 hom 2311.16 67 14 68264867 . A G 2311.16 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=34.49;VQSLOD=9.3005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2344,184,0 14 69259662 69259662 C A exonic ZFP36L1 synonymous SNV ZFP36L1:NM_001244701:exon2:c.G201T:p.T67T 0.2 0.39 0.15 0.0089 0.21 0.18 0.2037 0.3636 0.1062 0.0079 0.1862 0.2224 0.1938 0.2056 0.27 0.36 0.22 0.23 0.19 rs1051533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1962 0.3651 0.1099 0.2397 0.0056 0.1803 0.2246 0.2076 0.2054 0.2397 0.3499 0.1495 0.2417 0.0049 0.1742 0.2229 0.2150 het 2404.94 173 14 69259662 . C A 2404.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.067;DP=173;Dels=0.00;FS=1.269;HRun=0;HaplotypeScore=8.1777;MQ=59.51;MQ0=0;MQRankSum=1.845;QD=13.90;ReadPosRankSum=-0.401;VQSLOD=4.2814;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,90:173:99:2435,0,1832 14 69352230 69352230 G A exonic ACTN1 synonymous SNV ACTN1:NM_001102:exon12:c.C1297T:p.L433L,ACTN1:NM_001130004:exon12:c.C1297T:p.L433L,ACTN1:NM_001130005:exon12:c.C1297T:p.L433L 0.23 0.15 0.4 0.18 0.19 0.32 0.2384 0.1467 0.4638 0.1711 0.2080 0.2097 0.2018 0.3038 0.18 0.14 0.2 0.26 0.14 rs15993 COSM4416499;COSM3754061 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2475 0.1486 0.4500 0.2351 0.1715 0.2030 0.2067 0.2455 0.3030 0.1969 0.1570 0.3876 0.2185 0.1582 0.2049 0.2094 0.2260 het 1021.23 101 14 69352230 . G A 1021.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.673;DP=101;Dels=0.00;FS=5.016;HRun=1;HaplotypeScore=2.9623;MQ=58.80;MQ0=0;MQRankSum=-0.778;QD=10.11;ReadPosRankSum=0.464;VQSLOD=5.0964;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,39:101:99:1051,0,1716 14 69521345 69521345 G A exonic DCAF5 synonymous SNV DCAF5:NM_001284206:exon9:c.C2055T:p.T685T,DCAF5:NM_001284207:exon9:c.C1812T:p.T604T,DCAF5:NM_003861:exon9:c.C2058T:p.T686T 0.13 0.018 0.17 0.001 0.38 0.12 0.2534 0.0642 0.1331 0.0008 0.3713 0.3526 0.2632 0.1371 0.26 0.067 0.35 0.11 0.32 rs61741172 COSM3765764 1(liver);1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2569 0.0603 0.1489 0.3927 0.0009 0.3609 0.3526 0.2985 0.1425 0.2289 0.0606 0.1814 0.3412 0 0.3542 0.3186 0.2953 het 2316.03 138 14 69521345 . G A 2316.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.754;DP=138;Dels=0.00;FS=2.347;HRun=0;HaplotypeScore=4.3816;MQ=59.53;MQ0=0;MQRankSum=-0.081;QD=16.78;ReadPosRankSum=0.914;VQSLOD=5.1049;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,76:138:99:2346,0,1722 14 69703158 69703158 A G exonic EXD2 synonymous SNV EXD2:NM_018199:exon6:c.A816G:p.L272L,EXD2:NM_001193361:exon7:c.A1191G:p.L397L,EXD2:NM_001193363:exon7:c.A1191G:p.L397L,EXD2:NM_001193360:exon8:c.A1191G:p.L397L,EXD2:NM_001193362:exon8:c.A1191G:p.L397L 0.43 0.06 0.57 0.91 0.29 0.5 0.3864 0.0942 0.6428 0.9164 0.2755 0.3001 0.4053 0.5057 0.24 0.11 0.31 0.36 0.32 rs3211166 COSM5618741;COSM5618742 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3995 0.0909 0.6200 0.3175 0.9141 0.2894 0.3001 0.3520 0.4997 0.2913 0.1010 0.5718 0.3742 0.9278 0.2914 0.3127 0.3388 het 1452.83 91 14 69703158 . A G 1452.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.839;DP=91;Dels=0.00;FS=1.743;HRun=0;HaplotypeScore=2.3437;MQ=58.98;MQ0=0;MQRankSum=0.370;QD=15.97;ReadPosRankSum=0.203;VQSLOD=6.4183;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,49:91:99:1483,0,1167 14 69704553 69704553 G T exonic EXD2 nonsynonymous SNV EXD2:NM_018199:exon7:c.G1179T:p.Q393H,EXD2:NM_001193361:exon8:c.G1554T:p.Q518H,EXD2:NM_001193363:exon8:c.G1554T:p.Q518H,EXD2:NM_001193360:exon9:c.G1554T:p.Q518H,EXD2:NM_001193362:exon9:c.G1554T:p.Q518H 0.8 0.85 0.78 0.93 0.59 0.84 0.7023 0.8357 0.8066 0.9315 0.6082 0.6140 0.7075 0.8178 0.69 0.83 0.61 0.85 0.61 rs8007859 . . . . . . . . . . . . . 0.661 0.051 T 0.0 0.026 B 0.001 0.040 B 0.875 0.088 N 1 0.090 P -0.065 0.048 N 0.35 0.636 T -0.34 0.127 N 0.03 0.028 -0.985 0.339 T 0.000 0.000 T . . . 0.132 0.106 3.951 0.839 0.145 0.031 0.080 N c -1.432 -1.393 0.989 0.316 0.737 0.974 0 -2.07 0.068 0.035 0.136 -0.903 0.026 0.003 0.159 0.881 0.369 10.938 0.463 . . . 0.6996 0.8359 0.7945 0.5568 0.9323 0.6204 0.6148 0.6605 0.8117 0.7224 0.8364 0.7697 0.6026 0.9414 0.6319 0.6564 0.6735 het 311.02 38 14 69704553 . G T 311.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.785;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.338;QD=8.18;ReadPosRankSum=1.292;VQSLOD=10.7544;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,13:38:99:341,0,706 14 69799806 69799806 C T exonic GALNT16 synonymous SNV GALNT16:NM_001168368:exon8:c.C783T:p.F261F,GALNT16:NM_020692:exon8:c.C783T:p.F261F 0.087 0.014 0.042 0.2 0.061 0.13 0.0718 0.0210 0.0309 0.1986 0.0976 0.0560 0.0817 0.1189 0.046 0.024 0.058 0.076 0.066 rs2274440 COSM147802;COSM3754064 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0721 0.0208 0.0314 0.0775 0.2053 0.0974 0.0532 0.0688 0.1166 0.0570 0.0180 0.0419 0.0795 0.2057 0.0930 0.0549 0.0700 het 1927.35 135 14 69799806 . C T 1927.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.753;DP=135;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.4647;MQ=59.41;MQ0=0;MQRankSum=-2.282;QD=14.28;ReadPosRankSum=1.290;VQSLOD=4.6056;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,72:135:99:1957,0,1472 14 70634087 70634087 A G exonic SLC8A3 synonymous SNV SLC8A3:NM_033262:exon2:c.T1053C:p.R351R,SLC8A3:NM_058240:exon2:c.T1053C:p.R351R,SLC8A3:NM_182932:exon2:c.T1053C:p.R351R,SLC8A3:NM_183002:exon2:c.T1053C:p.R351R 0.99 0.97 1. 1. 1. 1. 0.9977 0.9764 0.9995 1 1 0.9996 0.9989 0.9998 0.99 0.98 1. 0.99 1. rs2114024 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9982 0.9773 0.9995 0.9986 1 1 0.9997 0.9989 0.9996 0.9946 0.9810 1 0.9967 1 1 0.9999 1 hom 5023.65 158 14 70634087 . A G 5023.65 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2624;MQ=58.07;MQ0=0;QD=31.80;VQSLOD=8.2507;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:158:99:5022,424,0 14 70924462 70924462 A G exonic ADAM21 synonymous SNV ADAM21:NM_003813:exon2:c.A246G:p.L82L . . . . . . 0.8390 0.6553 0.8576 0.5398 0.9278 0.8890 0.8503 0.8535 0.81 0.65 0.89 0.69 0.86 rs3751523 COSM3999356;COSM3999355 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8441 0.6461 0.8605 0.8286 0.5013 0.9257 0.8941 0.8501 0.8561 0.8040 0.6451 0.8462 0.7867 0.4542 0.9217 0.8962 0.8811 hom 5919.10 206 14 70924462 . A G 5919.10 Mask AC=2;AF=1.00;AN=2;DP=206;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=44.23;MQ0=14;QD=28.73;VQSLOD=2.5329;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:5918,484,0 14 71109153 71109153 C G exonic TTC9 nonsynonymous SNV TTC9:NM_015351:exon1:c.C307G:p.P103A 0.84 0.9 0.9 0.84 0.8 0.75 0.8611 0.9067 0.9292 0.8730 0.8438 0.8615 0.8648 0.8117 0.87 0.9 0.86 0.15 . rs4902834 COSM433314 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.446 0.091 T 0.001 0.067 B 0.0 0.013 B 0.104 0.197 N 1 0.090 P -0.225 0.039 N 2.2 0.186 T 0.22 0.047 N 0.048 0.029 -1.007 0.280 T 0.000 0.000 T . . . -2.649 0.002 0.001 0.592 0.060 0.035 0.086 N c -2.036 -2.065 1.000 0.747 0.442 0.072 0 -7.15 0.014 -0.894 0.042 -2.983 0.001 0.000 0.063 0.000 0.016 0.715 0.009 Tetratricopeptide-like helical domain ENSG00000133985.2|ENSG00000133985.2|ENSG00000133985.2|ENSG00000133985.2 Adrenal_Gland|Colon_Transverse|Esophagus_Muscularis|Lung 0.8376 0.9006 0.8965 0.8140 0.8394 0.8033 0.8345 0.8341 0.7919 0.8408 0.8850 0.9010 0.79 0.8323 0.7987 0.8251 0.8162 het 183 12 14 71109153 . C G 183 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DP=12;Dels=0.00;FS=2.398;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.244;QD=15.25;ReadPosRankSum=-0.380;VQSLOD=5.6790;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,7:12:99:213,0,123 14 71374702 71374702 G A exonic PCNX1 synonymous SNV PCNX1:NM_001308160:exon1:c.G135A:p.L45L,PCNX1:NM_014982:exon1:c.G135A:p.L45L 0.58 0.57 0.57 0.39 0.64 0.75 0.6352 0.5920 0.5039 0.3940 0.6936 0.6623 0.6408 0.7409 0.63 0.59 0.65 0.32 0.43 rs2526882 COSM433318 1(liver);3(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6175 0.5700 0.4900 0.5725 0.3586 0.6803 0.6557 0.6095 0.7339 0.6200 0.5818 0.5502 0.5533 0.3807 0.6725 0.6604 0.6320 hom 855.73 31 14 71374702 . G A 855.73 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;QD=27.60;VQSLOD=7.2484;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:75.20:889,75,0 14 72054708 72054708 G A exonic SIPA1L1 nonsynonymous SNV SIPA1L1:NM_001284247:exon1:c.G119A:p.R40Q,SIPA1L1:NM_001284245:exon2:c.G119A:p.R40Q,SIPA1L1:NM_001284246:exon2:c.G119A:p.R40Q,SIPA1L1:NM_015556:exon2:c.G119A:p.R40Q 0.0042 0.0008 0.0029 . 0.013 0.0051 0.0083 0.0020 0.0029 0 0.0113 0.0120 0.0044 0.0041 0.0077 0.0016 0.011 . 0.033 rs78621209 . . . . . . . . . . . . . 0.279 0.183 T 0.997 0.689 D 0.968 0.701 D 0.000 0.843 D 1 0.810 D 1.61 0.413 L -1.1 0.773 T -0.8 0.221 N 0.424 0.713 -0.252 0.763 T 0.390 0.744 T . . . 3.315 0.457 22.9 0.999 0.973 0.963 0.682 D c 0.668 0.702 1.0 0.983 0.732 0.924 0 5.48 0.806 8.020 0.890 1.048 0.713 1.000 0.715 0.998 0.697 19.711 0.961 . . . 0.0076 0.0016 0.0029 0.0045 0 0.0112 0.0117 0.0075 0.0039 0.0089 0.0009 0.0012 0.0033 0 0.0103 0.0146 0.0122 het 2455.15 223 14 72054708 . G A 2455.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.051;DP=223;DS;Dels=0.00;FS=1.666;HRun=0;HaplotypeScore=9.4106;MQ=58.99;MQ0=0;MQRankSum=2.676;QD=11.01;ReadPosRankSum=0.058;VQSLOD=3.3561;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,96:223:99:2485,0,3336 14 72055468 72055468 A C exonic SIPA1L1 synonymous SNV SIPA1L1:NM_001284247:exon1:c.A879C:p.S293S,SIPA1L1:NM_001284245:exon2:c.A879C:p.S293S,SIPA1L1:NM_001284246:exon2:c.A879C:p.S293S,SIPA1L1:NM_015556:exon2:c.A879C:p.S293S 0.88 0.96 0.85 0.94 0.76 0.87 0.8164 0.9339 0.8837 0.9370 0.8374 0.7571 0.7874 0.8660 0.81 0.92 0.75 0.91 0.83 rs1859643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8172 0.9360 0.8782 0.7234 0.9401 0.8325 0.7564 0.7834 0.8671 0.8393 0.9283 0.8532 0.7616 0.9374 0.8236 0.7816 0.8371 hom 2657.40 83 14 72055468 . A C 2657.40 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.78;MQ0=0;QD=32.02;VQSLOD=9.4219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2690,202,0 14 72055745 72055745 A G exonic SIPA1L1 nonsynonymous SNV SIPA1L1:NM_001284247:exon1:c.A1156G:p.M386V,SIPA1L1:NM_001284245:exon2:c.A1156G:p.M386V,SIPA1L1:NM_001284246:exon2:c.A1156G:p.M386V,SIPA1L1:NM_015556:exon2:c.A1156G:p.M386V 0.0014 0.003 . 0.001 . 0.002 0.0006 0.0020 0.0007 0 0.0002 0.0003 0.0011 0.0015 0.0005 0.0011 0.0002 . . rs147454458 . . . . . . . . . . . . . 0.462 0.087 T 0.011 0.163 B 0.014 0.218 B 0.000 0.629 D 0.920 0.366 D -0.145 0.044 N -0.89 0.748 T -0.66 0.193 N 0.495 0.541 -0.802 0.550 T 0.189 0.540 T 0.019 0.410 T 0.787 0.169 9.382 0.963 0.288 0.865 0.455 D c -0.130 0.104 1.000 0.747 0.706 0.609 0 6.07 0.987 3.208 0.506 1.199 0.960 0.996 0.391 0.975 0.474 16.641 0.849 . . . 0.0005 0.0020 0.0006 0 0.0001 8.974e-05 0.0002 0.0007 0.0011 0.0009 0.0024 0.0012 0 0.0006 0 0.0003 0 het 1451.54 90 14 72055745 . A G 1451.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.293;DP=90;Dels=0.00;FS=0.791;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=-0.475;QD=16.13;ReadPosRankSum=0.556;VQSLOD=4.5142;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,50:90:99:1482,0,1103 14 72117156 72117156 T C exonic SIPA1L1 synonymous SNV SIPA1L1:NM_001284247:exon4:c.T1923C:p.F641F,SIPA1L1:NM_001284245:exon5:c.T1923C:p.F641F,SIPA1L1:NM_001284246:exon5:c.T1923C:p.F641F,SIPA1L1:NM_015556:exon5:c.T1923C:p.F641F 0.96 0.99 0.92 1. 0.88 0.97 0.9119 0.9799 0.9367 1 0.9450 0.8704 0.9031 0.9609 0.91 0.97 0.87 0.95 0.88 rs8017465 COSM5619115 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9123 0.9803 0.9323 0.8404 0.9998 0.9478 0.8709 0.8860 0.9599 0.9278 0.9777 0.9248 0.8377 0.9994 0.9428 0.8898 0.9236 hom 6715.26 189 14 72117156 . T C 6715.26 Mask AC=2;AF=1.00;AN=2;DP=189;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.34;MQ0=0;QD=35.53;VQSLOD=10.1590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:6715,530,0 14 73422350 73422350 T G exonic DCAF4 synonymous SNV DCAF4:NM_181341:exon10:c.T945G:p.S315S,DCAF4:NM_181340:exon11:c.T825G:p.S275S,DCAF4:NM_001163508:exon12:c.T1107G:p.S369S,DCAF4:NM_001163509:exon12:c.T1062G:p.S354S,DCAF4:NM_015604:exon12:c.T1125G:p.S375S 0.21 0.19 0.15 0.15 0.31 0.22 0.2641 0.2133 0.1119 0.1392 0.4057 0.3182 0.2445 0.1939 0.27 0.22 0.3 0.16 0.3 rs2806034 COSM3754081 2(haematopoietic_and_lymphoid_tissue);1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2607 0.2105 0.1228 0.2521 0.1374 0.4155 0.3168 0.2520 0.1941 0.2921 0.2167 0.1163 0.2733 0.1344 0.4171 0.3335 0.3016 het 3214.25 250 14 73422350 . T G 3214.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.541;DP=250;DS;Dels=0.00;FS=4.559;HRun=1;HaplotypeScore=4.6306;MQ=58.85;MQ0=0;MQRankSum=1.274;QD=12.86;ReadPosRankSum=1.324;VQSLOD=4.9974;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:129,121:250:99:3244,0,3788 14 73717720 73717720 G A exonic PAPLN nonsynonymous SNV PAPLN:NM_173462:exon7:c.G571A:p.A191T 0.044 0.017 0.053 0.0079 0.12 0.033 0.0941 0.0350 0.0724 0.0088 0.1172 0.1269 0.0876 0.0474 0.1 0.033 0.14 0.033 0.09 rs741842 COSM3765768;COSM3765767 1(liver) . . . . . . . . . . . 0.274 0.309 T 0.733 0.421 P 0.216 0.400 B . . . 1.000 0.182 N 1.145 0.292 L -0.03 0.631 T -1.0 0.264 N 0.126 0.339 -1.184 0.003 T 0.001 0.003 T . . . 3.982 0.535 23.6 0.996 0.770 0.872 0.463 D c -0.139 0.004 1.000 0.517 0.696 0.567 0 4.33 0.509 3.649 0.539 0.842 0.343 0.867 0.305 0.899 0.380 14.051 0.641 ADAM-TS Spacer 1 ENSG00000258376.1|ENSG00000258376.1|ENSG00000258376.1|ENSG00000080815.14|ENSG00000080815.14|ENSG00000080815.14 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Thyroid|Whole_Blood 0.0915 0.0326 0.0716 0.0580 0.0119 0.1108 0.1298 0.1022 0.0439 0.0925 0.0336 0.0800 0.03 0.0086 0.0997 0.1347 0.1135 het 1455.72 161 14 73717720 . G A 1455.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.198;DP=161;Dels=0.00;FS=5.013;HRun=0;HaplotypeScore=4.6002;MQ=59.67;MQ0=1;MQRankSum=0.643;QD=9.04;ReadPosRankSum=-0.067;VQSLOD=4.6729;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:100,61:161:99:1486,0,2710 14 73727509 73727509 T G exonic PAPLN nonsynonymous SNV PAPLN:NM_173462:exon16:c.T1997G:p.M666R 0.66 0.75 0.68 0.71 0.48 0.64 0.5768 0.7350 0.7784 0.7252 0.4942 0.4907 0.5345 0.6672 0.62 0.81 0.52 0.54 0.45 rs177389 COSM3931979;COSM3931980 1(urinary_tract);2(large_intestine) . . . . . . . . . . . 0.349 0.123 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.8 0.000 N 0.05 0.619 T 2.36 0.004 N 0.065 0.311 -0.975 0.361 T 0.000 0.000 T . . . 0.344 0.127 6.110 0.229 0.009 0.015 0.049 N c -1.261 -1.100 1.000 0.747 0.660 0.495 0 3.65 0.408 2.074 0.409 0.090 0.195 0.580 0.274 0.018 0.130 9.762 0.395 . ENSG00000258376.1|ENSG00000258944.1|ENSG00000258376.1|ENSG00000259015.1|ENSG00000100767.11|ENSG00000258376.1|ENSG00000119599.12|ENSG00000258376.1|ENSG00000258376.1|ENSG00000259015.1|ENSG00000100767.11 Adipose_Subcutaneous|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.5715 0.7390 0.7519 0.4954 0.7289 0.4852 0.4886 0.5562 0.6619 0.5798 0.7296 0.7112 0.4503 0.7152 0.4808 0.4987 0.5429 het 292.78 35 14 73727509 . T G 292.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.792;DP=35;Dels=0.00;FS=3.290;HRun=1;HaplotypeScore=0.9967;MQ=58.80;MQ0=0;MQRankSum=-0.905;QD=8.37;ReadPosRankSum=-1.314;VQSLOD=4.8260;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,13:35:99:323,0,540 14 73957981 73957981 - C exonic RIOX1 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 1 1 1 1 0.9999 0.99 0.99 0.99 0.16 . rs386381768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1.0000 1 1 1 1 1 1 1 1 hom 587.69 14 14 73957981 . G GC 587.69 Mask AC=2;AF=1.00;AN=2;DP=14;FS=0.000;HRun=1;HaplotypeScore=27.6846;MQ=58.66;MQ0=0;QD=41.98;set=variant2 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:630,42,0 14 73963383 73963383 T C exonic HEATR4 synonymous SNV HEATR4:NM_203309:exon14:c.A2547G:p.K849K,HEATR4:NM_001220484:exon15:c.A2547G:p.K849K 0.81 0.92 0.81 0.84 0.71 0.73 0.7444 0.9006 0.8360 0.8569 0.7283 0.6867 0.7417 0.7625 0.76 0.89 0.7 0.81 0.68 rs8014577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7492 0.9024 0.8321 0.7234 0.8622 0.7292 0.6878 0.7355 0.7673 0.7624 0.8955 0.8170 0.7219 0.8660 0.7262 0.6818 0.7336 het 1420.68 83 14 73963383 . T C 1420.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.179;DP=83;Dels=0.00;FS=2.051;HRun=1;HaplotypeScore=1.9852;MQ=58.13;MQ0=0;MQRankSum=0.473;QD=17.12;ReadPosRankSum=0.702;VQSLOD=4.9455;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,54:83:99:1451,0,671 14 74060511 74060511 - TCAA exonic ACOT4 frameshift insertion ACOT4:NM_152331:exon2:c.563_564insTCAA:p.A189Qfs*3 0.0012 . . . 0.006 . 0.1270 0.0466 0.0713 0.0009 0.2271 0.1744 0.1278 0.0514 . . . . . rs373880503 COSM4603143 1(breast);4(upper_aerodigestive_tract);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0463 0.0109 0.0126 0.0290 0 0.1240 0.0690 0.0398 0.0150 0.1523 0.0561 0.1169 0.0845 0.0031 0.2489 0.2027 0.1959 het 2271.39 127 14 74060511 . T TTCAA 2271.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.162;DP=127;FS=1.724;HRun=0;HaplotypeScore=854.0808;MQ=53.53;MQ0=0;MQRankSum=-8.270;QD=17.88;ReadPosRankSum=2.186;set=variant2 GT:AD:DP:GQ:PL 0/1:96,31:127:99:2310,0,5560 14 74060514 74060517 CTTA - exonic ACOT4 frameshift deletion ACOT4:NM_152331:exon2:c.566_569del:p.A189Vfs*31 . . . . . . 0.1311 0.0494 0.0727 0.0009 0.2316 0.1818 0.1327 0.0531 0.077 0.024 0.11 . . rs375801976 COSM296207 1(breast);2(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0555 0.0129 0.0184 0.0343 0.0001 0.1431 0.0841 0.0519 0.0187 0.1532 0.0560 0.1160 0.0952 0.0031 0.2489 0.2046 0.1971 het 1514.10 128 14 74060513 . GCTTA G 1514.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.187;DP=128;FS=1.736;HRun=0;HaplotypeScore=931.0379;MQ=53.58;MQ0=0;MQRankSum=-8.171;QD=11.83;ReadPosRankSum=2.152;set=variant2 GT:AD:DP:GQ:PL 0/1:97,31:128:99:1553,0,7676 14 74061968 74061968 T C exonic ACOT4 synonymous SNV ACOT4:NM_152331:exon3:c.T876C:p.I292I 0.86 0.99 0.85 0.93 0.73 0.77 0.7736 0.9539 0.8784 0.9475 0.7071 0.7092 0.7632 0.7827 0.8 0.95 0.72 0.87 0.83 rs2010070 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7758 0.9552 0.8743 0.7143 0.9476 0.7086 0.7122 0.7656 0.7837 0.7902 0.9482 0.8532 0.6954 0.9438 0.7105 0.7017 0.7434 het 1937.56 150 14 74061968 . T C 1937.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.453;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.32;MQ0=0;MQRankSum=0.568;QD=12.92;ReadPosRankSum=-0.297;VQSLOD=6.7557;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,79:150:99:1968,0,1901 14 74206481 74206481 T C exonic ELMSAN1 synonymous SNV ELMSAN1:NM_001043318:exon2:c.A231G:p.V77V,ELMSAN1:NM_194278:exon2:c.A231G:p.V77V 0.86 0.97 0.82 0.93 0.77 0.77 0.7980 0.9439 0.8088 0.9467 0.6945 0.7668 0.7701 0.7905 0.82 0.94 0.77 0.87 0.84 rs758774 COSM4148235 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7927 0.9450 0.8066 0.7581 0.9468 0.6891 0.7685 0.7894 0.7903 0.8105 0.9471 0.7983 0.7748 0.9419 0.6982 0.7471 0.7664 het 1279.87 99 14 74206481 . T C 1279.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.518;DP=99;Dels=0.00;FS=11.850;HRun=0;HaplotypeScore=0.9332;MQ=59.15;MQ0=0;MQRankSum=-0.572;QD=12.93;ReadPosRankSum=-0.375;VQSLOD=4.5968;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,46:99:99:1310,0,1350 14 74441684 74441684 G A exonic ENTPD5 synonymous SNV ENTPD5:NM_001249:exon11:c.C727T:p.L243L,ENTPD5:NM_001321988:exon11:c.C727T:p.L243L,ENTPD5:NM_001321984:exon12:c.C727T:p.L243L,ENTPD5:NM_001321985:exon12:c.C727T:p.L243L,ENTPD5:NM_001321986:exon12:c.C727T:p.L243L,ENTPD5:NM_001330189:exon12:c.C727T:p.L243L,ENTPD5:NM_001321987:exon13:c.C727T:p.L243L 0.49 0.37 0.68 0.26 0.61 0.61 0.5902 0.3908 0.7269 0.2466 0.6896 0.6244 0.5938 0.6221 0.55 0.39 0.62 0.54 0.6 rs2074932 COSM3754105 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6021 0.3921 0.7173 0.6225 0.2445 0.6908 0.6261 0.6142 0.6211 0.5521 0.3916 0.6897 0.6291 0.2320 0.6852 0.6343 0.6342 het 1511.73 118 14 74441684 . G A 1511.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.207;DP=118;Dels=0.00;FS=4.197;HRun=1;HaplotypeScore=0.9578;MQ=59.61;MQ0=0;MQRankSum=-0.829;QD=12.81;ReadPosRankSum=1.186;VQSLOD=6.0870;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,54:118:99:1542,0,1835 14 74489735 74489735 G A exonic BBOF1 nonsynonymous SNV BBOF1:NM_025057:exon2:c.G173A:p.R58Q 0.2 0.065 0.097 0.56 0.15 0.15 0.1980 0.0861 0.1555 0.6034 0.1636 0.1773 0.1740 0.1485 0.12 0.08 0.14 0.16 . rs3784039 COSM147815 1(stomach);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.3 0.145 T 0.105 0.244 B 0.009 0.133 B 0.033 0.250 N 0.965 0.259 P 1.665 0.427 L 2.22 0.182 T -0.78 0.216 N 0.046 0.026 -0.953 0.404 T 0.000 0.000 T . . . 3.144 0.437 22.6 0.996 0.735 0.601 0.308 D c -0.395 -0.316 0.998 0.369 0.554 0.246 0 0.654 0.169 2.016 0.404 0.883 0.387 0.964 0.336 0.997 0.653 4.535 0.113 . ENSG00000259065.1|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000259065.1|ENSG00000205659.6|ENSG00000259065.1|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.1650 0.0767 0.1104 0.1537 0.5890 0.1435 0.1441 0.1500 0.1266 0.1470 0.0804 0.1415 0.1733 0.6241 0.1429 0.1351 0.1489 het 344.96 26 14 74489735 . G A 344.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=26;Dels=0.00;FS=3.682;HRun=0;HaplotypeScore=0.9993;MQ=59.11;MQ0=0;MQRankSum=-0.462;QD=13.27;ReadPosRankSum=0.051;VQSLOD=6.4090;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,13:26:99:375,0,394 14 74514674 74514674 A T exonic BBOF1 nonsynonymous SNV BBOF1:NM_025057:exon7:c.A689T:p.D230V 0.63 0.55 0.53 0.88 0.48 0.72 0.5655 0.5653 0.6194 0.9008 0.4468 0.4889 0.5414 0.6995 0.5 0.56 0.48 0.65 . rs3784038 COSM3754106 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.036 0.246 N 0.967 0.588 P -2.3 0.001 N 1.47 0.320 T 3.88 0.001 N 0.066 0.118 -0.977 0.358 T 0.000 0.000 T . . . 1.682 0.263 14.31 0.872 0.165 0.103 0.157 N c -0.733 -0.403 0.999 0.388 0.615 0.372 0 5.78 0.914 2.847 0.477 0.082 0.190 1.000 0.715 0.998 0.697 12.164 0.532 Domain of unknown function DUF4515 ENSG00000205659.6|ENSG00000205659.6|ENSG00000140043.7|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000140043.7|ENSG00000205659.6|ENSG00000140043.7|ENSG00000205659.6|ENSG00000119723.11|ENSG00000140043.7|ENSG00000258586.1|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000119723.11|ENSG00000140043.7|ENSG00000205659.6 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid 0.5485 0.5572 0.5848 0.4629 0.9050 0.4417 0.4729 0.5072 0.6932 0.5190 0.5685 0.5597 0.48 0.9074 0.4496 0.4642 0.4990 hom 854.99 29 14 74514674 . A T 854.99 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=29.48;VQSLOD=8.3383;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:72.22:888,72,0 14 74523869 74523869 A G exonic BBOF1 nonsynonymous SNV BBOF1:NM_025057:exon11:c.A1486G:p.K496E 0.24 0.16 0.17 0.24 0.18 0.47 0.2120 0.1688 0.1390 0.2429 0.1453 0.1784 0.2080 0.4373 0.18 0.17 0.18 0.22 0.13 rs3742809 COSM3754108;COSM3754107 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.226 0.185 T 0.0 0.026 B 0.001 0.040 B 0.422 0.129 N 1.000 0.353 P 0 0.065 N 2.29 0.171 T -0.08 0.082 N 0.067 0.141 -1.021 0.232 T 0.000 0.000 T . . . 0.772 0.168 9.287 0.941 0.236 0.318 0.242 N c -0.883 -0.734 0.036 0.143 0.615 0.372 0 2.71 0.310 0.994 0.291 -0.343 0.071 0.906 0.313 0.945 0.419 8.909 0.345 . ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000205659.6|ENSG00000119636.11|ENSG00000259114.1|ENSG00000205659.6|ENSG00000119636.11|ENSG00000259114.1|ENSG00000119636.11 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2087 0.1707 0.1473 0.1683 0.2435 0.1475 0.1810 0.1923 0.4353 0.1770 0.1760 0.1360 0.1490 0.2112 0.1556 0.1806 0.1955 het 1178.96 89 14 74523869 . A G 1178.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.754;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.58;MQ0=0;MQRankSum=-0.053;QD=13.25;ReadPosRankSum=-0.899;VQSLOD=6.8098;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,44:89:99:1209,0,1232 14 74523949 74523949 G A exonic BBOF1 synonymous SNV BBOF1:NM_025057:exon11:c.G1566A:p.Q522Q 0.3 0.36 0.18 0.24 0.19 0.49 0.2355 0.3487 0.1517 0.2431 0.1458 0.1843 0.2295 0.4616 0.24 0.34 0.19 0.33 0.15 rs3742808 COSM3754110;COSM3754109 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2286 0.3524 0.1611 0.1861 0.2439 0.1480 0.1859 0.2099 0.4620 0.2325 0.3611 0.1499 0.1755 0.2125 0.1564 0.1848 0.2112 het 1197.91 93 14 74523949 . G A 1197.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.172;DP=93;Dels=0.00;FS=0.817;HRun=1;HaplotypeScore=3.5514;MQ=59.30;MQ0=0;MQRankSum=-0.803;QD=12.88;ReadPosRankSum=-2.010;VQSLOD=5.4430;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,45:93:99:1228,0,1401 14 74759006 74759006 C T exonic ABCD4 nonsynonymous SNV ABCD4:NM_005050:exon11:c.G1102A:p.E368K 0.27 0.15 0.27 0.25 0.39 0.34 0.3276 0.1889 0.2011 0.2400 0.3128 0.3723 0.3838 0.3712 0.31 0.2 0.36 0.26 0.25 rs3742801 . . Benign not_specified RCV000254106.2 MedGen CN169374 . . . . . . 0.232 0.182 T 0.011 0.147 B 0.006 0.112 B 0.116 0.192 N 1.000 0.205 P 1.01 0.254 L -3.41 0.943 D -0.66 0.191 N 0.068 0.480 -1.079 0.076 T 0.000 0.000 T . . . 3.118 0.434 22.6 0.989 0.487 0.066 0.124 N c -0.885 -0.766 0.998 0.361 0.707 0.730 0 1.48 0.218 0.078 0.145 0.935 0.490 0.007 0.175 0.160 0.208 5.287 0.149 . ENSG00000258559.2|ENSG00000119723.11|ENSG00000258559.2|ENSG00000258559.2|ENSG00000119688.16|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000119688.16 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Prostate|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid 0.3271 0.1852 0.2234 0.4374 0.2417 0.3099 0.3715 0.3669 0.3677 0.3017 0.1925 0.2554 0.4338 0.2444 0.3132 0.3662 0.3398 hom 7478.78 241 14 74759006 . C T 7478.78 Mask AC=2;AF=1.00;AN=2;DP=241;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.57;MQ0=0;QD=31.03;VQSLOD=9.2430;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:7478,575,0 14 74759301 74759301 G T exonic ABCD4 synonymous SNV ABCD4:NM_005050:exon10:c.C981A:p.L327L 0.26 0.12 0.27 0.25 0.39 0.34 0.3243 0.1636 0.1995 0.2387 0.3119 0.3709 0.3856 0.3714 0.3 0.17 0.36 0.26 0.3 rs4148078 . . Benign not_specified RCV000253809.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3246 0.1591 0.2219 0.4370 0.2410 0.3094 0.3703 0.3659 0.3679 0.2954 0.1702 0.2554 0.4338 0.2463 0.3128 0.3660 0.3412 hom 3348.97 106 14 74759301 . G T 3348.97 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.1992;MQ=59.21;MQ0=0;QD=31.59;VQSLOD=9.6595;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3349,262,0 14 74759477 74759477 C T exonic ABCD4 nonsynonymous SNV ABCD4:NM_005050:exon9:c.G910A:p.A304T 0.27 0.15 0.27 0.25 0.39 0.34 0.3285 0.1903 0.2023 0.2407 0.3127 0.3729 0.3895 0.3725 0.31 0.2 0.36 0.26 0.31 rs4148077 COSM3736115;COSM3736116 1(skin) Benign not_specified RCV000249059.2 MedGen CN169374 . . . . . . 0.865 0.026 T 0.003 0.102 B 0.003 0.080 B 0.001 0.424 N 0.453 0.337 P 0.895 0.225 L -3.47 0.945 D -0.3 0.119 N 0.012 0.390 -1.059 0.120 T 0.000 0.000 T . . . 2.237 0.330 17.75 0.883 0.173 0.325 0.244 N c -0.826 -0.665 0.999 0.389 0.707 0.730 0 2.14 0.264 0.657 0.245 -0.003 0.134 0.383 0.258 0.995 0.604 4.363 0.106 ABC transporter type 1\x2c transmembrane domain ENSG00000258559.2|ENSG00000119723.11|ENSG00000258559.2|ENSG00000258559.2|ENSG00000119688.16|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000258559.2|ENSG00000119688.16 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Prostate|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid 0.3273 0.1859 0.2234 0.4372 0.2415 0.3106 0.3715 0.3674 0.3683 0.3018 0.1925 0.2554 0.4338 0.2444 0.3130 0.3665 0.3391 hom 1886.69 61 14 74759477 . C T 1886.69 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.164;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=59.62;MQ0=0;MQRankSum=-0.312;QD=30.93;ReadPosRankSum=1.051;VQSLOD=8.9816;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,60:61:99:1920,131,0 14 74766352 74766352 A G exonic ABCD4 synonymous SNV ABCD4:NM_005050:exon3:c.T184C:p.L62L 0.26 0.12 0.27 0.25 0.39 0.34 0.3385 0.1691 0.2258 0.2549 0.3263 0.3828 0.3986 0.3823 0.3 0.17 0.36 0.26 0.28 rs2301345 . . Benign not_specified RCV000245945.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3252 0.1597 0.2225 0.4374 0.2414 0.3105 0.3711 0.3656 0.3678 0.2953 0.1703 0.2554 0.4338 0.2469 0.3131 0.3657 0.3388 hom 1469.96 41 14 74766352 . A G 1469.96 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.85;VQSLOD=13.7801;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1503,117,0 14 74876355 74876355 G C exonic SYNDIG1L nonsynonymous SNV SYNDIG1L:NM_001105579:exon2:c.C93G:p.S31R 0.1 0.098 0.19 0.081 0.12 0.054 0.1179 0.1036 0.2357 0.0937 0.1001 0.1112 0.1143 0.0659 0.11 0.1 0.11 0.087 0.033 rs61734850 COSM3754111 1(breast);1(large_intestine) . . . . . . . . . . . 0.016 0.518 D 0.232 0.290 B 0.147 0.324 B 0.009 0.306 N 0.732 0.298 P 2.095 0.583 M -3.69 0.953 D -0.75 0.589 N 0.072 0.061 -0.726 0.592 T 0.007 0.022 T . . . 1.432 0.235 12.95 0.987 0.452 0.936 0.583 D c -0.237 -0.139 1.000 0.441 0.534 0.214 0 3.46 0.386 0.616 0.239 0.898 0.412 0.103 0.226 0.975 0.474 9.878 0.402 . ENSG00000270000.1|ENSG00000259005.1|ENSG00000270000.1 Adipose_Subcutaneous|Lung|Thyroid 0.1172 0.1047 0.2279 0.0948 0.0937 0.0940 0.1127 0.1238 0.0685 0.1143 0.1015 0.2088 0.1225 0.0994 0.0942 0.1228 0.1112 het 782.61 65 14 74876355 . G C 782.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.562;DP=65;Dels=0.00;FS=11.563;HRun=1;HaplotypeScore=2.7822;MQ=59.71;MQ0=0;MQRankSum=-0.927;QD=12.04;ReadPosRankSum=-0.034;VQSLOD=3.9870;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,29:65:99:813,0,1027 14 74970666 74970666 G A exonic LTBP2 synonymous SNV LTBP2:NM_000428:exon31:c.C4545T:p.P1515P 0.0006 0.0008 . . 0.001 0.001 0.0013 0.0002 0.0002 0.0001 0.0003 0.0020 0 0.0011 0.0006 . 0.0009 . . rs144521879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0001 0.0001 0 5.798e-05 0.0005 0.0018 0.0005 0.0011 0.0009 0.0003 0 0 0 0.0009 0.0014 0 het 863.10 60 14 74970666 . G A 863.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.050;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.30;MQ0=0;MQRankSum=-1.395;QD=14.39;ReadPosRankSum=-0.276;VQSLOD=4.5718;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,34:60:99:893,0,649 14 74991855 74991855 A G exonic LTBP2 synonymous SNV LTBP2:NM_000428:exon15:c.T2502C:p.T834T 0.73 0.83 0.67 0.74 0.65 0.7 0.6737 0.8134 0.6373 0.7364 0.6793 0.6458 0.6907 0.6953 0.71 0.81 0.66 0.71 0.63 rs862031 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6716 0.8174 0.6354 0.6186 0.7353 0.6769 0.6456 0.6905 0.6962 0.7087 0.8126 0.6468 0.6589 0.7265 0.6783 0.6595 0.6816 het 1613.51 150 14 74991855 . A G 1613.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.657;DP=150;Dels=0.00;FS=6.085;HRun=1;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;MQRankSum=0.257;QD=10.76;ReadPosRankSum=1.478;VQSLOD=5.3651;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,67:150:99:1644,0,2243 14 74992800 74992800 A G exonic LTBP2 synonymous SNV LTBP2:NM_000428:exon14:c.T2406C:p.T802T 0.38 0.54 0.41 0.33 0.28 0.28 0.3545 0.5169 0.4468 0.3871 0.3299 0.3211 0.3535 0.2957 0.35 0.49 0.28 0.38 0.23 rs699374 COSM1178433 1(haematopoietic_and_lymphoid_tissue);1(prostate) Benign|Likely benign|Likely benign not_specified|Weill-Marchesani_syndrome|Primary_congenital_glaucoma RCV000254357.2|RCV000293181.1|RCV000391683.1 MedGen|MedGen:Orphanet|Human_Phenotype_Ontology:MedGen CN169374|C0265313:ORPHA3449|HP:0008007:C1533041 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3043 0.4967 0.4102 0.2552 0.3385 0.2695 0.2630 0.3051 0.2627 0.3513 0.4987 0.4053 0.3046 0.3586 0.2851 0.2809 0.3129 het 232.27 18 14 74992800 . A G 232.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.706;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=12.90;ReadPosRankSum=-1.766;VQSLOD=11.5166;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:262,0,228 14 75230953 75230953 C T exonic YLPM1 nonsynonymous SNV YLPM1:NM_019589:exon1:c.C761T:p.P254L 0.027 0.0015 0.029 0.001 0.074 0.038 0.0544 0.0124 0.0251 0.0002 0.0514 0.0720 0.0547 0.0581 0.056 0.016 0.074 0.054 . rs45599947 COSM3773711;COSM3773710 1(kidney) . . . . . . . . . . . 0.061 0.371 T 0.004 0.112 B 0.01 0.139 B 0.089 0.204 N 0.962 0.383 D 0.345 0.112 N 2.04 0.208 T -1.27 0.320 N 0.032 0.080 -1.027 0.213 T 0.002 0.005 T . . . 1.525 0.245 13.45 0.571 0.056 0.596 0.307 D c -0.522 -0.359 1.000 0.747 0.628 0.401 0 4.31 0.505 3.874 0.556 0.935 0.490 0.992 0.373 0.802 0.337 12.174 0.533 . ENSG00000259065.1 Heart_Left_Ventricle 0.0540 0.0120 0.0297 0.0525 0.0003 0.0496 0.0744 0.0659 0.0587 0.0490 0.0133 0.0384 0.0563 0.0006 0.0547 0.0731 0.0652 het 1091.50 84 14 75230953 . C T 1091.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.897;DP=84;Dels=0.00;FS=3.033;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=-1.198;QD=12.99;ReadPosRankSum=-0.050;VQSLOD=5.7757;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,42:84:99:1121,0,1200 14 75279395 75279395 T A exonic YLPM1 synonymous SNV YLPM1:NM_019589:exon11:c.T5412A:p.P1804P 0.73 0.69 0.76 0.8 0.7 0.71 0.7058 0.7036 0.8273 0.7604 0.6208 0.6830 0.6522 0.7231 0.7 0.71 0.7 0.75 . rs2302834 COSM4148248;COSM4148247 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7077 0.7083 0.8147 0.6292 0.7652 0.6268 0.6878 0.6877 0.7181 0.6918 0.7024 0.7924 0.6026 0.7853 0.6389 0.6861 0.6609 het 357.75 38 14 75279395 . T A 357.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.022;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=60.00;MQ0=0;MQRankSum=-0.610;QD=9.41;ReadPosRankSum=-0.770;VQSLOD=5.6371;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:38:99:388,0,602 14 75359670 75359670 G A exonic DLST synonymous SNV DLST:NM_001933:exon8:c.G576A:p.Q192Q 0.67 0.98 0.57 0.42 0.53 0.7 0.5882 0.9090 0.4808 0.4727 0.6618 0.5441 0.6292 0.6673 0.65 0.9 0.53 0.69 0.55 rs2230237 COSM1371111 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5749 0.9170 0.4853 0.5423 0.4682 0.6532 0.5351 0.5486 0.6623 0.6477 0.9059 0.5107 0.5563 0.4440 0.6492 0.5318 0.5929 het 919.68 87 14 75359670 . G A 919.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.407;DP=87;Dels=0.00;FS=0.856;HRun=1;HaplotypeScore=0.9332;MQ=59.74;MQ0=0;MQRankSum=-0.516;QD=10.57;ReadPosRankSum=-1.131;VQSLOD=6.0545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,39:87:99:950,0,1290 14 75367807 75367807 C T exonic DLST synonymous SNV DLST:NM_001933:exon14:c.C1098T:p.G366G 0.28 0.34 0.23 0.22 0.3 0.3 0.3036 0.3300 0.1748 0.2526 0.3902 0.3227 0.3667 0.2885 0.32 0.34 0.31 0.25 0.34 rs20578 COSM5425255 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2975 0.3209 0.1856 0.3838 0.2461 0.3785 0.3141 0.3167 0.2868 0.3208 0.3293 0.2112 0.4233 0.2277 0.3676 0.3176 0.3429 het 1431.43 144 14 75367807 . C T 1431.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.725;DP=144;Dels=0.00;FS=3.181;HRun=0;HaplotypeScore=2.5326;MQ=58.68;MQ0=0;MQRankSum=0.187;QD=9.94;ReadPosRankSum=0.123;VQSLOD=5.2993;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,57:144:99:1461,0,2147 14 75483812 75483812 T C exonic MLH3 synonymous SNV MLH3:NM_014381:exon12:c.A4263G:p.Q1421Q,MLH3:NM_001040108:exon13:c.A4335G:p.Q1445Q 0.58 0.41 0.67 0.84 0.54 0.52 0.5634 0.4453 0.7662 0.8291 0.5325 0.5321 0.5253 0.4976 0.5 0.45 0.53 0.51 0.48 rs13712 . . Benign|Likely benign not_specified|Lynch_syndrome RCV000244868.1|RCV000408030.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C1333990:ORPHA144:315058005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5745 0.4441 0.7501 0.5162 0.8338 0.5428 0.5326 0.5607 0.4982 0.5295 0.4433 0.7076 0.4570 0.8401 0.5384 0.5341 0.5491 het 3001.66 222 14 75483812 . T C 3001.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.988;DP=222;Dels=0.00;FS=3.913;HRun=0;HaplotypeScore=9.7542;MQ=59.16;MQ0=0;MQRankSum=-0.396;QD=13.52;ReadPosRankSum=2.239;VQSLOD=3.6221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,110:222:99:3032,0,2790 14 75513828 75513828 G A exonic MLH3 nonsynonymous SNV MLH3:NM_001040108:exon2:c.C2531T:p.P844L,MLH3:NM_014381:exon2:c.C2531T:p.P844L 0.36 0.43 0.32 0.15 0.46 0.44 0.4126 0.4022 0.2238 0.1593 0.4652 0.4611 0.4615 0.4644 0.44 0.4 0.46 0.39 0.51 rs175080 COSM3754114;COSM3754113 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign not_specified|Lynch_syndrome RCV000253289.1|RCV000385582.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C1333990:ORPHA144:315058005 . . . . . . 0.286 0.157 T 0.01 0.144 B 0.009 0.133 B 0.116 0.192 N 1 0.200 P 1.15 0.294 L -1.43 0.812 T -2.95 0.615 D 0.101 0.104 -0.979 0.351 T 0.000 0.000 T . . . 0.239 0.117 5.081 0.601 0.062 0.100 0.155 N c -0.631 -0.582 1.000 0.747 0.651 0.465 0 4.12 0.473 1.889 0.391 1.044 0.665 0.128 0.231 0.920 0.395 7.412 0.260 . ENSG00000259138.1|ENSG00000258646.1|ENSG00000119718.6|ENSG00000258646.1|ENSG00000119718.6|ENSG00000198208.7|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119718.6|ENSG00000258646.1|ENSG00000119718.6|ENSG00000198208.7|ENSG00000119684.11|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119718.6|ENSG00000119718.6|ENSG00000259138.1|ENSG00000119638.8|ENSG00000258646.1|ENSG00000119718.6|ENSG00000258646.1|ENSG00000119718.6|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119640.4|ENSG00000258646.1|ENSG00000119718.6|ENSG00000198208.7|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119689.10|ENSG00000119718.6|ENSG00000198208.7|ENSG00000259138.1|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119703.12|ENSG00000119718.6|ENSG00000198208.7|ENSG00000119718.6|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119703.12|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119718.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Testis|Testis|Testis|Whole_Blood 0.4045 0.3982 0.2393 0.4818 0.1542 0.4558 0.4597 0.4230 0.4633 0.4205 0.3988 0.2788 0.5397 0.1481 0.4607 0.4575 0.4376 het 1980.06 144 14 75513828 . G A 1980.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.874;DP=144;Dels=0.00;FS=1.341;HRun=1;HaplotypeScore=4.8664;MQ=59.26;MQ0=0;MQRankSum=1.069;QD=13.75;ReadPosRankSum=-0.091;VQSLOD=5.4363;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,68:144:99:2010,0,2093 14 75513883 75513883 T C exonic MLH3 nonsynonymous SNV MLH3:NM_001040108:exon2:c.A2476G:p.N826D,MLH3:NM_014381:exon2:c.A2476G:p.N826D 0.99 0.97 0.99 1. 1. 1. 0.9968 0.9652 0.9984 1 1 0.9999 0.9989 0.9999 0.99 0.97 1. 0.99 1. rs175081 . . Benign|Likely benign not_specified|Lynch_syndrome RCV000249947.1|RCV000293688.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C1333990:ORPHA144:315058005 . . . . . . 0.848 0.028 T 0.001 0.067 B 0.0 0.013 B 0.345 0.139 N 1 0.182 P 0 0.065 N -1.3 0.800 T -0.26 0.112 N 0.01 0.001 -0.969 0.374 T 0.000 0.000 T . . . -0.981 0.033 0.017 0.686 0.084 0.050 0.106 N c -1.500 -1.443 1.000 0.462 0.651 0.465 0 1.33 0.209 0.319 0.191 -0.152 0.108 0.000 0.063 0.019 0.132 3.716 0.079 . . . 0.9974 0.9630 0.9985 1 1 1 0.9999 0.9984 0.9998 0.9902 0.9660 0.9988 1 0.9994 1 0.9999 0.9969 hom 4974.08 160 14 75513883 . T C 4974.08 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=58.89;MQ0=0;QD=31.09;VQSLOD=9.5406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,159:160:99:4974,382,0 14 75537381 75537381 C T exonic ZC2HC1C synonymous SNV ZC2HC1C:NM_001042430:exon2:c.C105T:p.Y35Y,ZC2HC1C:NM_001330191:exon2:c.C105T:p.Y35Y,ZC2HC1C:NM_024643:exon2:c.C105T:p.Y35Y 0.35 0.026 0.42 0.65 0.45 0.32 0.4020 0.0866 0.4876 0.6415 0.3941 0.4228 0.3933 0.3239 0.31 0.096 0.42 0.25 0.38 rs11546525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4120 0.0810 0.4821 0.4225 0.6426 0.4109 0.4230 0.4137 0.3279 0.3409 0.0873 0.4653 0.3874 0.6582 0.3993 0.4290 0.4059 het 1332.15 122 14 75537381 . C T 1332.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.251;DP=122;Dels=0.00;FS=0.689;HRun=0;HaplotypeScore=3.9733;MQ=59.35;MQ0=0;MQRankSum=-0.579;QD=10.92;ReadPosRankSum=-0.940;VQSLOD=5.5683;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,51:122:99:1362,0,1749 14 75538217 75538217 G T exonic ZC2HC1C nonsynonymous SNV ZC2HC1C:NM_001330191:exon2:c.G941T:p.G314V,ZC2HC1C:NM_024643:exon2:c.G941T:p.G314V 0.52 0.29 0.62 0.84 0.5 0.47 0.5128 0.3131 0.7419 0.8273 0.4643 0.4834 0.4778 0.4468 0.43 0.31 0.48 0.45 0.43 rs3742778 . . . . . . . . . . . . . 0.023 0.481 D 0.001 0.067 B 0.003 0.080 B 0.021 0.269 N 1.000 0.302 P 0.55 0.145 N 0.91 0.449 T -1.17 0.399 N 0.049 0.031 -1.013 0.259 T 0.000 0.000 T . . . 0.590 0.150 8.084 0.801 0.126 0.154 0.187 N c -0.655 -0.583 1.000 0.517 0.554 0.283 0 3.66 0.409 3.047 0.493 1.048 0.713 0.236 0.245 0.681 0.305 8.453 0.319 . ENSG00000259138.1|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119718.6|ENSG00000198208.7|ENSG00000258646.1|ENSG00000119718.6|ENSG00000198208.7|ENSG00000198208.7|ENSG00000119718.6|ENSG00000119703.12|ENSG00000258646.1|ENSG00000119718.6|ENSG00000198208.7|ENSG00000119638.8|ENSG00000119684.11|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119718.6|ENSG00000119718.6|ENSG00000119718.6|ENSG00000259138.1|ENSG00000119638.8|ENSG00000258646.1|ENSG00000119718.6|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119638.8|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119640.4|ENSG00000119638.8|ENSG00000119718.6|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119689.10|ENSG00000119718.6|ENSG00000198208.7|ENSG00000259138.1|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119703.12|ENSG00000119718.6|ENSG00000198208.7|ENSG00000119718.6|ENSG00000119703.12|ENSG00000258646.1|ENSG00000119718.6|ENSG00000198208.7|ENSG00000119718.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Whole_Blood 0.5261 0.3122 0.7278 0.4726 0.8328 0.4787 0.4839 0.5099 0.4476 0.4579 0.3109 0.6734 0.4272 0.8397 0.4762 0.4845 0.4888 het 706.17 53 14 75538217 . G T 706.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.394;DP=53;Dels=0.00;FS=1.095;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.579;QD=13.32;ReadPosRankSum=-1.167;VQSLOD=6.2061;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,28:53:99:736,0,597 14 75574087 75574087 C T exonic NEK9 nonsynonymous SNV NEK9:NM_001329237:exon11:c.G1286A:p.R429H,NEK9:NM_001329238:exon11:c.G932A:p.R311H,NEK9:NM_033116:exon11:c.G1286A:p.R429H 0.52 0.29 0.62 0.84 0.5 0.47 0.5113 0.3184 0.7421 0.8279 0.4646 0.4827 0.4747 0.4417 0.43 0.32 0.49 0.45 0.45 rs10146482 COSM5002537 1(pancreas) . . . . . . . . . . . 0.257 0.167 T 0.002 0.090 B 0.002 0.063 B 0.011 0.297 N 1.000 0.090 P 0.7 0.186 N -1.92 0.848 D -1.23 0.312 N 0.026 0.008 -0.928 0.444 T 0.000 0.000 T . . . 2.381 0.347 18.70 0.680 0.083 0.085 0.143 N c -1.032 -1.010 0.010 0.120 0.707 0.730 0 -1.48 0.082 0.468 0.216 -0.687 0.038 0.061 0.216 0.736 0.318 12.492 0.551 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II ENSG00000259138.1|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119718.6|ENSG00000198208.7|ENSG00000258646.1|ENSG00000119718.6|ENSG00000198208.7|ENSG00000198208.7|ENSG00000119718.6|ENSG00000119703.12|ENSG00000258646.1|ENSG00000119718.6|ENSG00000198208.7|ENSG00000119638.8|ENSG00000119684.11|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119718.6|ENSG00000119718.6|ENSG00000119718.6|ENSG00000259138.1|ENSG00000119638.8|ENSG00000258646.1|ENSG00000119718.6|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119638.8|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119640.4|ENSG00000119638.8|ENSG00000258646.1|ENSG00000119718.6|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119689.10|ENSG00000170348.4|ENSG00000119718.6|ENSG00000198208.7|ENSG00000259138.1|ENSG00000258646.1|ENSG00000119718.6|ENSG00000119703.12|ENSG00000119718.6|ENSG00000198208.7|ENSG00000119718.6|ENSG00000119703.12|ENSG00000258646.1|ENSG00000119718.6|ENSG00000198208.7|ENSG00000119718.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Whole_Blood 0.5254 0.3168 0.7278 0.4720 0.8332 0.4788 0.4833 0.5089 0.4426 0.4588 0.3143 0.6747 0.4238 0.8387 0.4765 0.4845 0.4888 het 1127.98 119 14 75574087 . C T 1127.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.762;DP=119;Dels=0.00;FS=3.423;HRun=0;HaplotypeScore=2.3046;MQ=59.81;MQ0=0;MQRankSum=0.660;QD=9.48;ReadPosRankSum=-0.068;VQSLOD=6.1527;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,45:119:99:1158,0,1940 14 75590822 75590822 G A exonic NEK9 synonymous SNV NEK9:NM_001329237:exon2:c.C324T:p.H108H,NEK9:NM_033116:exon2:c.C324T:p.H108H 0.5 0.2 0.61 0.84 0.5 0.47 0.5042 0.2353 0.7383 0.8281 0.4643 0.4825 0.4768 0.4451 0.4 0.24 0.49 0.39 0.44 rs8017642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5201 0.2343 0.7239 0.4650 0.8328 0.4788 0.4837 0.5067 0.4463 0.4363 0.2352 0.6742 0.4305 0.8379 0.4765 0.4845 0.4836 het 1973.27 143 14 75590822 . G A 1973.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.471;DP=143;Dels=0.00;FS=3.044;HRun=0;HaplotypeScore=3.5773;MQ=60.00;MQ0=0;MQRankSum=-0.775;QD=13.80;ReadPosRankSum=-1.046;VQSLOD=5.0900;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,76:143:99:2003,0,1595 14 75590846 75590846 A T exonic NEK9 synonymous SNV NEK9:NM_001329237:exon2:c.T300A:p.I100I,NEK9:NM_033116:exon2:c.T300A:p.I100I 0.43 0.58 0.36 0.15 0.49 0.48 0.4664 0.5618 0.2474 0.1603 0.5333 0.5096 0.5100 0.5162 0.52 0.56 0.51 0.48 0.53 rs175449 COSM3754116 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4544 0.5597 0.2609 0.5193 0.1553 0.5196 0.5083 0.4721 0.5141 0.5001 0.5583 0.3150 0.5530 0.1512 0.5232 0.5081 0.4949 het 1746.24 130 14 75590846 . A T 1746.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.909;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2787;MQ=60.00;MQ0=0;MQRankSum=-0.648;QD=13.43;ReadPosRankSum=-1.242;VQSLOD=4.8489;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,67:130:99:1776,0,1723 14 75746690 75746690 C T exonic FOS synonymous SNV FOS:NM_005252:exon2:c.C252T:p.S84S 0.7 0.92 0.65 0.57 0.72 0.57 0.7054 0.8887 0.6543 0.5617 0.7721 0.7224 0.6965 0.6055 0.78 0.88 0.73 0.73 0.7 rs1046117 COSM4148254 2(thyroid) . . . . . . . . . . . 0.122 0.912 T . . . . . . . . . 0.000 0.810 P . . . -1.36 0.801 T 0.93 0.132 N . . -1.008 0.277 T 0.000 0.000 T . . . 1.964 0.297 15.98 0.963 0.287 0.187 0.202 N c -0.710 -0.744 1.000 0.747 0.493 0.174 0 -1.11 0.093 -2.037 0.015 -0.332 0.074 0.000 0.063 0.997 0.653 4.167 0.097 . . . 0.7034 0.8933 0.6641 0.6887 0.5574 0.7710 0.7250 0.7102 0.6099 0.7797 0.8887 0.6778 0.6656 0.5546 0.7815 0.7496 0.7556 het 1697.56 104 14 75746690 . C T 1697.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.936;DP=104;Dels=0.00;FS=2.124;HRun=0;HaplotypeScore=1.5762;MQ=59.60;MQ0=0;MQRankSum=-0.553;QD=16.32;ReadPosRankSum=-0.341;VQSLOD=5.6949;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,57:104:99:1728,0,1257 14 75904660 75904660 A G exonic JDP2 nonsynonymous SNV JDP2:NM_001135047:exon2:c.A37G:p.T13A,JDP2:NM_001135048:exon2:c.A37G:p.T13A,JDP2:NM_001135049:exon2:c.A70G:p.T24A,JDP2:NM_130469:exon2:c.A37G:p.T13A 0.61 0.79 0.44 0.66 0.52 0.51 0.5298 0.7508 0.3993 0.6455 0.5285 0.5153 0.5012 0.4813 0.6 0.74 0.53 0.64 0.27 rs3625 COSM4148256;COSM4148255 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.191 P -2.395 0.001 N 0.7 0.614 T 0.96 0.018 N 0.225 0.276 -0.949 0.412 T 0.000 0.000 T . . . -0.141 0.081 1.446 0.214 0.008 0.189 0.202 N c -0.824 -0.593 1.000 0.747 0.722 0.854 0 4.72 0.591 7.255 0.776 0.076 0.183 1.000 0.715 0.339 0.244 10.718 0.450 . ENSG00000259319.1 Brain_Cerebellar_Hemisphere 0.5157 0.7509 0.4033 0.4640 0.6423 0.5220 0.5151 0.5114 0.4692 0.5953 0.7617 0.4294 0.5367 0.6695 0.5324 0.5190 0.5429 hom 766.89 26 14 75904660 . A G 766.89 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.50;VQSLOD=14.0092;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:66.19:800,66,0 14 76156609 76156609 C T exonic TTLL5 nonsynonymous SNV TTLL5:NM_015072:exon6:c.C446T:p.A149V 0.39 0.024 0.58 0.36 0.66 0.53 0.5742 0.1185 0.6338 0.3560 0.7489 0.6564 0.5980 0.5306 0.48 0.14 0.65 0.25 0.69 rs2303345 COSM3754118 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.629 0.140 T 0.613 0.391 P 0.219 0.402 B 0.004 0.340 N 0.568 0.312 P 0.765 0.194 N 3.93 0.073 T -0.97 0.283 N 0.175 0.357 -1.099 0.043 T 0.000 0.000 T . . . 2.775 0.394 21.2 0.992 0.536 0.900 0.505 D c 0.204 0.334 1.000 0.747 0.757 0.989 0 5.26 0.734 5.198 0.648 0.852 0.362 1.000 0.715 0.992 0.562 9.179 0.361 . ENSG00000119685.15|ENSG00000119685.15|ENSG00000119685.15|ENSG00000119685.15|ENSG00000119685.15|ENSG00000224721.1|ENSG00000119685.15|ENSG00000119686.5|ENSG00000119685.15|ENSG00000119685.15|ENSG00000119685.15|ENSG00000119685.15|ENSG00000119685.15 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Whole_Blood 0.5814 0.1057 0.6334 0.5168 0.3477 0.7411 0.6566 0.5901 0.5239 0.5046 0.1201 0.6444 0.5397 0.3424 0.7463 0.6717 0.6401 het 1346.54 126 14 76156609 . C T 1346.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.470;DP=126;Dels=0.00;FS=3.281;HRun=4;HaplotypeScore=0.9665;MQ=58.45;MQ0=0;MQRankSum=1.549;QD=10.69;ReadPosRankSum=-0.936;VQSLOD=5.5598;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,57:126:99:1377,0,1776 14 76957887 76957887 T C exonic ESRRB synonymous SNV ESRRB:NM_004452:exon8:c.T885C:p.Y295Y 0.99 0.97 1. 1. 1. 1. 0.9986 0.9864 0.9992 0.9998 1 0.9999 1 1 1. 0.99 1. 0.95 0.85 rs2361293 COSM4148262;COSM4148261 1(thyroid) Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038141.3|RCV000351899.1 MedGen|MedGen CN169374|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9847 0.9994 1 0.9999 1 0.9999 0.9994 1 0.9957 0.9852 0.9976 1 1 1 0.9999 1 hom 632.23 23 14 76957887 . T C 632.23 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.49;VQSLOD=13.5362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:60.13:665,60,0 14 77236380 77236380 C T exonic VASH1 synonymous SNV VASH1:NM_014909:exon2:c.C384T:p.Y128Y 0.54 0.45 0.52 0.46 0.61 0.67 0.5777 0.4905 0.4406 0.4746 0.6059 0.6071 0.6038 0.6510 0.57 0.49 0.62 0.45 0.59 rs3815550 COSM3765771;COSM3765772 1(breast);1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5759 0.4904 0.4456 0.6026 0.4769 0.6110 0.6111 0.5953 0.6506 0.5591 0.4813 0.4773 0.6324 0.4505 0.6195 0.6028 0.5929 het 1938.18 153 14 77236380 . C T 1938.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.630;DP=153;DS;Dels=0.00;FS=1.373;HRun=0;HaplotypeScore=0.9993;MQ=58.91;MQ0=0;MQRankSum=-0.086;QD=12.67;ReadPosRankSum=-0.042;VQSLOD=6.6543;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,72:153:99:1968,0,2291 14 77332367 77332367 C T exonic LRRC74A synonymous SNV LRRC74A:NM_194287:exon12:c.C1308T:p.P436P 0.92 0.85 0.89 0.89 0.99 0.97 0.9657 0.8650 0.8822 0.9124 0.9870 0.9979 0.9771 0.9695 0.96 0.88 1. 0.89 . rs1882844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9633 0.8573 0.8875 0.9972 0.9097 0.9893 0.9986 0.9714 0.9691 0.9530 0.8670 0.9021 0.9934 0.9179 0.9908 0.9986 0.9745 hom 1216.81 44 14 77332367 . C T 1216.81 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=27.65;VQSLOD=8.0817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:96.30:1250,96,0 14 77332408 77332408 T C exonic LRRC74A nonsynonymous SNV LRRC74A:NM_194287:exon12:c.T1349C:p.V450A 0.23 0.22 0.33 0.085 0.33 0.21 0.3332 0.2630 0.3560 0.1221 0.3667 0.3816 0.3513 0.2494 0.3 0.22 0.34 0.16 . rs7160583 COSM4148265 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.304 0.145 N 1 0.090 P -0.55 0.024 N 3.25 0.068 T 1.79 0.005 N 0.009 0.001 -0.920 0.456 T 0.000 0.000 T . . . -1.972 0.008 0.001 0.220 0.009 0.001 0.006 N c -1.551 -1.439 0.989 0.317 0.497 0.185 0 0.535 0.162 0.322 0.192 -0.346 0.071 0.172 0.237 0.016 0.126 7.827 0.283 . . . 0.2854 0.2199 0.2758 0.3116 0.0908 0.3333 0.3335 0.3064 0.2181 0.2902 0.2164 0.3198 0.3567 0.0910 0.3407 0.3368 0.3367 het 318.57 34 14 77332408 . T C 318.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.123;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=-0.121;QD=9.37;ReadPosRankSum=-1.363;VQSLOD=6.5293;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,16:34:99:349,0,507 14 77492891 77492891 G A exonic IRF2BPL synonymous SNV IRF2BPL:NM_024496:exon1:c.C1245T:p.Y415Y 0.38 0.095 0.38 0.52 0.55 0.45 0.4780 0.1757 0.3368 0.5560 0.5738 0.5325 0.5156 0.4661 0.42 0.19 0.54 0.29 0.48 rs879027 COSM3754121 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4813 0.1730 0.3451 0.4510 0.5509 0.5790 0.5408 0.4949 0.4653 0.4449 0.1847 0.3828 0.4139 0.5478 0.5755 0.5525 0.5420 het 1120.49 92 14 77492891 . G A 1120.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.013;DP=92;Dels=0.00;FS=6.690;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=-0.425;QD=12.18;ReadPosRankSum=-0.893;VQSLOD=5.2688;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,47:92:99:1150,0,1124 14 77703057 77703057 A G exonic TMEM63C synonymous SNV TMEM63C:NM_020431:exon9:c.A633G:p.A211A 0.8 0.88 0.68 0.93 0.7 0.76 0.7447 0.8705 0.6793 0.9286 0.7114 0.7128 0.7125 0.7634 0.77 0.87 0.72 0.74 . rs403291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7401 0.8731 0.6905 0.6512 0.9298 0.7111 0.7168 0.7001 0.7628 0.7730 0.8698 0.7217 0.6457 0.9281 0.7052 0.7230 0.7479 hom 5829.26 182 14 77703057 . A G 5829.26 Mask AC=2;AF=1.00;AN=2;DP=182;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7668;MQ=59.56;MQ0=0;QD=32.03;VQSLOD=8.2870;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5828,454,0 14 77745193 77745193 A C exonic POMT2 synonymous SNV POMT2:NM_013382:exon19:c.T1911G:p.L637L 0.85 0.85 0.76 0.95 0.85 0.79 0.8176 0.8368 0.7247 0.9650 0.8430 0.8197 0.8133 0.7749 0.82 0.84 0.81 0.69 0.64 rs3209079 COSM4148271 1(thyroid);1(central_nervous_system) Benign\x2cBenign not_specified\x2cnot_specified RCV000118038.2\x2cRCV000153051.3 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8140 0.8426 0.7370 0.8176 0.9640 0.8463 0.8140 0.8100 0.7758 0.8324 0.8324 0.75 0.8046 0.9505 0.8420 0.8224 0.8347 het 1341.42 82 14 77745193 . A C 1341.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.350;DP=82;Dels=0.00;FS=3.940;HRun=0;HaplotypeScore=0.9789;MQ=59.44;MQ0=0;MQRankSum=1.201;QD=16.36;ReadPosRankSum=-0.238;VQSLOD=5.8431;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,46:82:99:1371,0,1010 14 77751925 77751925 C T exonic POMT2 synonymous SNV POMT2:NM_013382:exon13:c.G1383A:p.R461R 0.86 0.88 0.76 0.95 0.85 0.81 0.8208 0.8690 0.7178 0.9651 0.8396 0.8161 0.8139 0.7988 0.83 0.87 0.81 0.89 0.78 rs2270419 COSM4148272 1(thyroid) Benign\x2cBenign not_specified\x2cnot_specified RCV000127577.2\x2cRCV000153056.3 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8173 0.8757 0.7338 0.8461 0.9636 0.8437 0.8093 0.8106 0.7998 0.8391 0.8624 0.7434 0.8444 0.9505 0.8400 0.8185 0.8395 het 3088 250 14 77751925 . C T 3088 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.051;DP=250;DS;Dels=0.00;FS=5.961;HRun=3;HaplotypeScore=6.2405;MQ=58.44;MQ0=0;MQRankSum=1.846;QD=12.35;ReadPosRankSum=1.039;VQSLOD=4.4019;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3118,0,3956 14 77793207 77793207 G A exonic GSTZ1 nonsynonymous SNV GSTZ1:NM_145870:exon3:c.G94A:p.E32K,GSTZ1:NM_145871:exon3:c.G94A:p.E32K 0.31 0.3 0.21 0.47 0.32 0.22 0.3748 0.3498 0.2721 0.5053 0.4813 0.3964 0.3338 0.2563 0.32 0.29 0.33 0.37 0.24 rs7975 . . . . . . . . . . . . . 0.027 0.506 D 0.996 0.670 D 0.905 0.625 P 0.000 0.537 D 0.000 0.810 P . . . 1.7 0.269 T -3.29 0.660 D 0.139 0.310 -0.898 0.482 T 0.000 0.000 T . . . 4.770 0.640 24.7 0.999 0.976 0.924 0.553 D c 0.654 0.636 1.000 0.747 0.635 0.413 0 5.57 0.840 5.230 0.649 0.953 0.551 1.000 0.715 0.798 0.336 16.458 0.838 Glutathione S-transferase\x2c N-terminal|Thioredoxin-like fold ENSG00000100577.14|ENSG00000100577.14|ENSG00000100577.14|ENSG00000100577.14|ENSG00000100577.14|ENSG00000100580.7|ENSG00000100577.14|ENSG00000100577.14|ENSG00000100577.14|ENSG00000100577.14|ENSG00000100577.14|ENSG00000100577.14|ENSG00000100580.7|ENSG00000100577.14|ENSG00000100577.14|ENSG00000100580.7|ENSG00000100577.14|ENSG00000165555.5|ENSG00000100577.14|ENSG00000100577.14|ENSG00000165555.5|ENSG00000100583.4|ENSG00000009830.7|ENSG00000100577.14|ENSG00000100580.7 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.3057 0.2983 0.2032 0.3251 0.4519 0.3878 0.3218 0.3167 0.2138 0.3403 0.2976 0.2314 0.3377 0.4499 0.3891 0.3460 0.3717 het 197.16 25 14 77793207 . G A 197.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.023;DP=25;Dels=0.00;FS=6.545;HRun=1;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=0.305;QD=7.89;ReadPosRankSum=-0.582;VQSLOD=4.5296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,10:25:99:227,0,365 14 77794283 77794283 T C exonic GSTZ1 nonsynonymous SNV GSTZ1:NM_145870:exon5:c.T245C:p.M82T,GSTZ1:NM_001312660:exon6:c.T80C:p.M27T 0.85 0.92 0.74 0.96 0.81 0.78 0.8162 0.9035 0.7069 0.9653 0.8462 0.8086 0.8002 0.7794 0.84 0.9 0.8 0.87 0.77 rs1046428 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.810 P -1.81 0.003 N 1.84 0.247 T 4.24 0.001 N 0.094 0.153 -0.966 0.380 T 0.000 0.000 T . . . 0.979 0.188 10.54 0.558 0.053 0.108 0.161 N c -0.798 -0.491 1.000 0.747 0.706 0.609 0 4.8 0.610 2.443 0.443 0.069 0.176 0.976 0.346 0.968 0.456 10.820 0.456 Glutathione S-transferase\x2c N-terminal|Thioredoxin-like fold ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7 Adipose_Subcutaneous|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach 0.8120 0.9083 0.7217 0.8199 0.9630 0.8552 0.8020 0.7995 0.7824 0.8458 0.8983 0.7356 0.8311 0.9523 0.8510 0.8095 0.8364 het 1219.89 105 14 77794283 . T C 1219.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.327;DP=105;Dels=0.00;FS=3.605;HRun=0;HaplotypeScore=2.8244;MQ=59.32;MQ0=0;MQRankSum=1.626;QD=11.62;ReadPosRankSum=-1.813;VQSLOD=5.4428;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,50:105:99:1250,0,1563 14 77843814 77843814 T C exonic SAMD15 nonsynonymous SNV SAMD15:NM_001010860:exon1:c.T53C:p.L18P 0.51 0.89 0.48 0.089 0.5 0.48 0.4829 0.8301 0.4676 0.0790 0.4754 0.4764 0.5099 0.5139 0.59 0.82 0.47 0.65 0.43 rs11844594 COSM147819 1(stomach);4(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.274 0.158 T 0.0 0.026 B 0.0 0.013 B 0.959 0.082 N 1 0.090 P 0.385 0.122 N 1.21 0.372 T -0.48 0.154 N 0.066 0.059 -1.024 0.222 T 0.000 0.000 T . . . -0.282 0.070 0.729 0.513 0.045 0.006 0.025 N c -1.343 -1.378 1.000 0.747 0.564 0.319 0 -1.74 0.076 -0.861 0.043 -0.873 0.028 0.000 0.063 0.000 0.016 5.426 0.156 . ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000100580.7|ENSG00000165555.5|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000151445.11|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000151445.11|ENSG00000165555.5|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000151445.11|ENSG00000100580.7|ENSG00000151445.11|ENSG00000165555.5|ENSG00000100583.4|ENSG00000151445.11|ENSG00000151445.11|ENSG00000100577.14|ENSG00000165555.5|ENSG00000100580.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4721 0.8373 0.4717 0.4925 0.0772 0.4667 0.4706 0.4889 0.5121 0.5509 0.8261 0.4749 0.4371 0.0834 0.4713 0.4721 0.4620 het 1230.06 107 14 77843814 . T C 1230.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.405;DP=107;Dels=0.00;FS=1.640;HRun=1;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;MQRankSum=0.034;QD=11.50;ReadPosRankSum=-1.654;VQSLOD=6.2394;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,49:107:99:1260,0,1658 14 77843971 77843971 C T exonic SAMD15 synonymous SNV SAMD15:NM_001010860:exon1:c.C210T:p.D70D 0.14 0.059 0.27 0.016 0.2 0.23 0.1899 0.0840 0.3042 0.0105 0.1723 0.1947 0.2149 0.2559 0.16 0.093 0.2 0.14 0.16 rs45540040 COSM3754128 1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1937 0.0802 0.2929 0.1528 0.0102 0.1647 0.1995 0.2188 0.2530 0.1492 0.0828 0.3007 0.1291 0.0198 0.1617 0.1894 0.1694 het 1939.07 145 14 77843971 . C T 1939.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.377;DP=145;Dels=0.00;FS=11.677;HRun=0;HaplotypeScore=5.1109;MQ=60.00;MQ0=0;MQRankSum=1.382;QD=13.37;ReadPosRankSum=-1.259;VQSLOD=3.5754;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,73:145:99:1969,0,2082 14 77844265 77844265 G A exonic SAMD15 nonsynonymous SNV SAMD15:NM_001010860:exon1:c.G504A:p.M168I 0.14 0.059 0.27 0.016 0.2 0.23 0.1905 0.0849 0.3043 0.0106 0.1722 0.1953 0.2151 0.2562 0.16 0.092 0.2 0.14 0.19 rs45527334 COSM3773712 1(kidney) . . . . . . . . . . . 0.191 0.210 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.1 0.281 L 2.2 0.186 T -0.39 0.136 N 0.018 0.005 -0.931 0.440 T 0.000 0.000 T . . . 0.438 0.136 6.936 0.866 0.161 0.029 0.075 N c -1.016 -1.053 1.000 0.416 0.583 0.331 0 -1.46 0.083 -0.205 0.093 0.831 0.339 0.000 0.063 0.006 0.095 4.697 0.121 . ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000165555.5|ENSG00000165555.5|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100580.7|ENSG00000100583.4|ENSG00000165555.5|ENSG00000100580.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Whole_Blood 0.1936 0.0795 0.2929 0.1526 0.0102 0.1648 0.1994 0.2187 0.2529 0.1492 0.0825 0.2998 0.1291 0.0198 0.1613 0.1899 0.1690 het 2357.80 202 14 77844265 . G A 2357.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.936;DP=202;DS;Dels=0.00;FS=6.478;HRun=0;HaplotypeScore=8.8658;MQ=58.96;MQ0=0;MQRankSum=0.940;QD=11.67;ReadPosRankSum=0.057;VQSLOD=4.0511;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,94:202:99:2388,0,2899 14 77844869 77844869 A G exonic SAMD15 nonsynonymous SNV SAMD15:NM_001010860:exon1:c.A1108G:p.K370E 0.52 0.93 0.48 0.089 0.5 0.48 0.4845 0.8584 0.4695 0.0781 0.4752 0.4762 0.5134 0.5133 0.6 0.85 0.47 0.65 0.46 rs4903576 COSM147820 1(stomach);4(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.459 0.049 N 1 0.090 P 0 0.065 N 1.52 0.307 T 1.77 0.005 N 0.048 0.051 -0.987 0.334 T 0.000 0.000 T . . . -1.339 0.021 0.004 0.687 0.085 0.000 0.002 N c -1.399 -1.313 1.000 0.429 0.487 0.133 0 2.43 0.287 -0.246 0.088 -1.039 0.021 0.000 0.063 0.003 0.074 4.454 0.110 . ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000100580.7|ENSG00000165555.5|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000151445.11|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000151445.11|ENSG00000165555.5|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000151445.11|ENSG00000100580.7|ENSG00000151445.11|ENSG00000165555.5|ENSG00000100583.4|ENSG00000151445.11|ENSG00000151445.11|ENSG00000100577.14|ENSG00000165555.5|ENSG00000100580.7|ENSG00000100583.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4741 0.8653 0.4742 0.4940 0.0767 0.4667 0.4707 0.4897 0.5119 0.5588 0.8536 0.4749 0.4371 0.0835 0.4701 0.4726 0.4631 het 1858.44 151 14 77844869 . A G 1858.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.073;DP=151;Dels=0.00;FS=2.062;HRun=1;HaplotypeScore=1.8824;MQ=59.22;MQ0=0;MQRankSum=3.997;QD=12.31;ReadPosRankSum=1.357;VQSLOD=3.7261;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,73:151:99:1888,0,1800 14 77845121 77845121 A G exonic SAMD15 nonsynonymous SNV SAMD15:NM_001010860:exon1:c.A1360G:p.K454E 0.51 0.89 0.48 0.088 0.5 0.48 0.4823 0.8300 0.4680 0.0781 0.4752 0.4757 0.5110 0.5130 0.59 0.82 0.47 0.65 0.5 rs2193595 COSM147821 1(stomach);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.496 0.078 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 1.37 0.342 T -0.24 0.108 N 0.004 0.000 -0.979 0.353 T 0.000 0.000 T . . . -1.605 0.015 0.002 0.459 0.036 0.007 0.029 N c -1.647 -1.690 1.000 0.451 0.516 0.203 0 -2.42 0.061 -0.861 0.043 -1.301 0.014 0.000 0.063 0.004 0.083 3.790 0.082 . ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000100580.7|ENSG00000165555.5|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000151445.11|ENSG00000100580.7|ENSG00000165555.5|ENSG00000100580.7|ENSG00000151445.11|ENSG00000165555.5|ENSG00000165555.5|ENSG00000100580.7|ENSG00000165555.5|ENSG00000151445.11|ENSG00000100580.7|ENSG00000151445.11|ENSG00000165555.5|ENSG00000100583.4|ENSG00000151445.11|ENSG00000151445.11|ENSG00000100577.14|ENSG00000165555.5|ENSG00000100580.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4726 0.8372 0.4740 0.4942 0.0768 0.4665 0.4704 0.4910 0.5132 0.5507 0.8265 0.4749 0.4333 0.0826 0.4705 0.4716 0.4592 het 1022.99 73 14 77845121 . A G 1022.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.511;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9833;MQ=60.00;MQ0=0;MQRankSum=-2.029;QD=14.01;ReadPosRankSum=2.361;VQSLOD=4.4316;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,39:73:99:1053,0,945 14 77880305 77880305 C T exonic NOXRED1 synonymous SNV NOXRED1:NM_001113475:exon2:c.G321A:p.R107R 0.15 0.1 0.27 0.016 0.19 0.23 0.1888 0.1232 0.2992 0.0099 0.1733 0.1864 0.2190 0.2659 0.17 0.13 0.18 0.14 0.16 rs10130481 COSM3754130;COSM3754131 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1881 0.1189 0.2870 0.1534 0.0090 0.1623 0.1875 0.2134 0.2480 0.1548 0.1225 0.2971 0.1325 0.0185 0.1597 0.1787 0.1680 het 618.64 50 14 77880305 . C T 618.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.63;MQ0=0;MQRankSum=-0.834;QD=12.37;ReadPosRankSum=1.145;VQSLOD=6.5200;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,25:50:99:649,0,690 14 77926011 77926011 C T exonic AHSA1 synonymous SNV AHSA1:NM_012111:exon2:c.C133T:p.L45L 0.47 0.069 0.51 0.92 0.49 0.52 0.5092 0.1388 0.5296 0.9332 0.5206 0.5145 0.4692 0.4821 0.4 0.15 0.52 0.35 0.49 rs1061629 COSM3754132 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5196 0.1310 0.5232 0.4804 0.9345 0.5285 0.5203 0.5002 0.4832 0.4363 0.1417 0.5263 0.5166 0.9314 0.5272 0.5201 0.5387 het 2806.34 211 14 77926011 . C T 2806.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.319;DP=211;Dels=0.00;FS=4.046;HRun=1;HaplotypeScore=6.4030;MQ=59.71;MQ0=0;MQRankSum=0.150;QD=13.30;ReadPosRankSum=-2.987;VQSLOD=3.4378;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:110,101:211:99:2836,0,3091 14 77928525 77928525 A G exonic AHSA1 synonymous SNV AHSA1:NM_012111:exon3:c.A294G:p.Q98Q 0.62 0.38 0.62 0.92 0.67 0.61 0.6569 0.4274 0.5948 0.9315 0.6918 0.6805 0.6305 0.5932 0.6 0.43 0.68 0.55 0.73 rs1061638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6609 0.4232 0.5994 0.6576 0.9314 0.6996 0.6823 0.6456 0.5927 0.6267 0.4239 0.6089 0.6788 0.9325 0.7039 0.6895 0.6864 het 843.12 66 14 77928525 . A G 843.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.843;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;MQRankSum=-1.123;QD=12.77;ReadPosRankSum=0.725;VQSLOD=6.3659;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,32:66:99:873,0,818 14 77935520 77935520 G A exonic AHSA1 synonymous SNV AHSA1:NM_001321441:exon9:c.G540A:p.T180T,AHSA1:NM_012111:exon9:c.G945A:p.T315T 0.48 0.095 0.51 0.92 0.49 0.52 0.5113 0.1614 0.5304 0.9287 0.5207 0.5145 0.4714 0.4851 0.4 0.17 0.52 0.36 0.49 rs7250 COSM3754133 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5208 0.1524 0.5232 0.4805 0.9293 0.5289 0.5200 0.5002 0.4860 0.4409 0.1602 0.5263 0.5166 0.9277 0.5281 0.5191 0.5348 het 2789.45 242 14 77935520 . G A 2789.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.950;DP=242;DS;Dels=0.00;FS=2.214;HRun=0;HaplotypeScore=3.7240;MQ=59.64;MQ0=0;MQRankSum=2.196;QD=11.53;ReadPosRankSum=0.477;VQSLOD=5.4496;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:128,114:242:99:2819,0,3332 14 77951124 77951124 C T exonic ISM2 nonsynonymous SNV ISM2:NM_182509:exon2:c.G280A:p.A94T,ISM2:NM_199296:exon2:c.G280A:p.A94T 0.59 0.15 0.65 0.95 0.65 0.72 0.6567 0.2345 0.6211 0.9318 0.7280 0.6742 0.6648 0.7035 0.52 0.24 0.67 0.47 0.61 rs3742728 . . . . . . . . . . . . . 0.278 0.251 T 0.213 0.420 B 0.016 0.368 B . . . 1 0.090 P 1.385 0.346 L 1.79 0.360 T -0.57 0.444 N 0.048 0.054 -0.861 0.512 T 0.000 0.000 T . . . 2.739 0.390 21.0 0.952 0.259 0.015 0.050 N c -0.988 -1.106 0.998 0.369 0.554 0.246 0 0.674 0.170 0.613 0.238 0.781 0.315 0.001 0.137 0.014 0.122 4.820 0.127 . ENSG00000151445.11|ENSG00000100593.13|ENSG00000151445.11|ENSG00000100583.4|ENSG00000151445.11|ENSG00000100593.13 Artery_Tibial|Brain_Caudate_basal_ganglia|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid 0.6625 0.2244 0.6136 0.6112 0.9353 0.7238 0.6757 0.6780 0.7025 0.5649 0.2370 0.6437 0.6510 0.9345 0.7214 0.6643 0.6923 hom 2570.75 77 14 77951124 . C T 2570.75 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6553;MQ=59.76;MQ0=0;QD=33.39;VQSLOD=10.0177;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2604,217,0 14 78028803 78028803 A G exonic SPTLC2 synonymous SNV SPTLC2:NM_004863:exon6:c.T786C:p.N262N 0.84 0.56 0.82 0.99 0.94 0.97 0.9029 0.6300 0.7867 0.9945 0.9459 0.9340 0.9350 0.9638 0.83 0.64 0.93 0.74 0.82 rs2364602 . . Benign Hereditary_sensory_and_autonomic_neuropathy_type_IC RCV000294134.1 MedGen:OMIM C3150896:613640 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9051 0.6194 0.7961 0.9608 0.9947 0.9455 0.9328 0.9207 0.9651 0.8472 0.6232 0.8055 0.9570 0.9963 0.9401 0.9345 0.9235 hom 4822.86 159 14 78028803 . A G 4822.86 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4771;MQ=58.43;MQ0=0;QD=30.33;VQSLOD=8.5866;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4822,373,0 14 78140329 78140329 G A exonic ALKBH1 synonymous SNV ALKBH1:NM_006020:exon6:c.C996T:p.S332S 0.09 0.058 0.099 0.017 0.2 0.094 0.1370 0.0697 0.0811 0.0328 0.1655 0.1784 0.1773 0.0920 0.14 0.081 0.16 0.15 0.18 rs6493 COSM3754135 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1363 0.0697 0.0886 0.2317 0.0320 0.1707 0.1728 0.1546 0.0892 0.1384 0.0719 0.0919 0.2053 0.0333 0.1609 0.1829 0.1622 het 941.12 77 14 78140329 . G A 941.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.035;DP=77;Dels=0.00;FS=0.904;HRun=1;HaplotypeScore=6.3910;MQ=58.61;MQ0=0;MQRankSum=-0.525;QD=12.22;ReadPosRankSum=-0.328;VQSLOD=4.9545;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:41,36:77:99:971,0,1131 14 78140355 78140355 T A exonic ALKBH1 nonsynonymous SNV ALKBH1:NM_006020:exon6:c.A970T:p.M324L 0.12 0.061 0.12 0.046 0.24 0.15 0.1760 0.0790 0.0957 0.0485 0.2140 0.2262 0.2152 0.1399 0.17 0.091 0.22 0.17 0.19 rs6494 COSM3754136 1(large_intestine) . . . . . . . . . . . 0.643 0.049 T 0.0 0.026 B 0.0 0.013 B 0.907 0.086 N 1 0.090 P 0.14 0.088 N 1.64 0.278 T -0.69 0.197 N 0.013 0.002 -0.952 0.407 T 0.000 0.000 T . . . 0.586 0.150 8.060 0.657 0.076 0.235 0.219 N c -1.165 -1.014 0.050 0.148 0.707 0.730 0 -0.831 0.102 0.077 0.145 -0.349 0.070 0.000 0.063 0.792 0.334 1.363 0.020 Alpha-ketoglutarate-dependent dioxygenase AlkB-like|Oxoglutarate/iron-dependent dioxygenase ENSG00000197734.4|ENSG00000197734.4|ENSG00000197734.4|ENSG00000197734.4|ENSG00000100596.2|ENSG00000197734.4|ENSG00000197734.4 Artery_Tibial|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid 0.1756 0.0773 0.1036 0.2744 0.0471 0.2198 0.2224 0.1923 0.1381 0.1764 0.0810 0.1181 0.2533 0.0507 0.2155 0.2363 0.2051 het 854.63 71 14 78140355 . T A 854.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.235;DP=71;Dels=0.00;FS=3.246;HRun=1;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;MQRankSum=1.439;QD=12.04;ReadPosRankSum=0.445;VQSLOD=5.4801;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,32:71:99:885,0,1057 14 78174473 78174473 A C exonic SLIRP synonymous SNV SLIRP:NM_001267863:exon1:c.A19C:p.R7R,SLIRP:NM_001267864:exon1:c.A19C:p.R7R,SLIRP:NM_031210:exon1:c.A19C:p.R7R 0.87 0.83 0.94 0.84 0.96 0.82 0.9226 0.8411 0.9130 0.8221 0.9422 0.9633 0.9273 0.8607 0.92 0.85 0.96 0.86 0.91 rs11159286 COSM4415403 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9249 0.8460 0.9171 0.9400 0.8152 0.9496 0.9648 0.9289 0.8661 0.9224 0.8505 0.9320 0.9404 0.8046 0.9490 0.9686 0.9409 hom 2686.51 92 14 78174473 . A C 2686.51 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.55;MQ0=0;QD=29.20;VQSLOD=8.9767;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2720,217,0 14 78184566 78184566 C A exonic SNW1 nonsynonymous SNV SNW1:NM_001318844:exon13:c.G1556T:p.C519F 0.84 0.92 0.83 0.73 0.83 0.88 0.8385 0.8891 0.8592 0.7469 0.8635 0.8325 0.8532 0.8534 0.85 0.89 0.83 0.89 0.78 rs176960 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.000 0.810 P . . . . . . 4.7 0.000 N . . -1.008 0.276 T 0.000 0.000 T . . . 1.385 0.230 12.71 0.846 0.148 0.556 0.296 D c -0.617 -0.489 0.773 0.237 0.672 0.522 0 1.83 0.242 -0.092 0.110 -0.251 0.090 0.484 0.266 0.996 0.625 10.421 0.433 . . . 0.8380 0.8917 0.8566 0.8402 0.7369 0.8652 0.8309 0.8401 0.8527 0.8429 0.8854 0.8717 0.8411 0.7392 0.8702 0.8223 0.8279 hom 7631.32 243 14 78184566 . C A 7631.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.905;DP=243;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4051;MQ=58.78;MQ0=0;MQRankSum=1.433;QD=31.40;ReadPosRankSum=-0.777;VQSLOD=7.1664;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,242:243:99:7595,573,0 14 78197365 78197365 C T exonic SNW1 synonymous SNV SNW1:NM_001318844:exon10:c.G999A:p.E333E,SNW1:NM_012245:exon10:c.G999A:p.E333E 0.62 0.61 0.65 0.68 0.49 0.71 0.5712 0.5632 0.7082 0.6977 0.5251 0.5086 0.5639 0.6853 0.53 0.56 0.52 0.56 0.5 rs114763 COSM5445656 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5756 0.5615 0.6985 0.5162 0.6892 0.5160 0.5107 0.5618 0.6850 0.5293 0.5532 0.6909 0.5464 0.6912 0.5244 0.4894 0.5337 het 1915.79 158 14 78197365 . C T 1915.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.069;DP=158;Dels=0.00;FS=1.259;HRun=1;HaplotypeScore=2.9414;MQ=58.99;MQ0=0;MQRankSum=0.033;QD=12.13;ReadPosRankSum=0.520;VQSLOD=5.8245;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,80:158:99:1946,0,1990 14 78374172 78374172 C T exonic ADCK1 synonymous SNV ADCK1:NM_001142545:exon6:c.C564T:p.S188S,ADCK1:NM_020421:exon7:c.C768T:p.S256S 0.076 0.1 0.099 0.001 0.13 0.047 0.0979 0.1135 0.0516 0.0001 0.1162 0.1245 0.1169 0.0557 0.12 0.12 0.12 0.054 0.082 rs34272020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0957 0.1141 0.0590 0.1515 0.0003 0.1135 0.1210 0.1094 0.0553 0.1053 0.1122 0.0740 0.1267 0.0006 0.1137 0.1123 0.1010 het 1125.22 76 14 78374172 . C T 1125.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.343;DP=76;Dels=0.00;FS=2.420;HRun=0;HaplotypeScore=2.6496;MQ=59.20;MQ0=0;MQRankSum=-1.226;QD=14.81;ReadPosRankSum=-1.486;VQSLOD=5.2455;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,39:76:99:1155,0,928 14 78399644 78399644 C A exonic ADCK1 nonsynonymous SNV ADCK1:NM_001142545:exon10:c.C1278A:p.N426K,ADCK1:NM_020421:exon11:c.C1482A:p.N494K . . . . . . 2.471e-05 0 0 0 0 4.495e-05 0 0 . . . . . rs760460969 . . . . . . . . . . . . . 0.107 0.301 T 0.008 0.167 B 0.017 0.218 B 0.247 0.156 N 1.000 0.488 D 1.905 0.510 L -0.15 0.652 T -1.88 0.439 N 0.285 0.344 -0.909 0.470 T 0.191 0.543 T 0.040 0.593 D 1.475 0.240 13.18 0.725 0.097 0.765 0.372 D c -0.743 -0.679 1.000 0.425 0.706 0.609 0 4.7 0.586 2.095 0.411 0.070 0.177 0.944 0.326 0.340 0.244 12.743 0.565 . . . 1.218e-05 0 0 0 0 0 2.685e-05 0 0 3.229e-05 0 0 0 0 0 6.661e-05 0 het 1943.10 152 14 78399644 . C A 1943.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.452;DP=152;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.5410;MQ=58.70;MQ0=0;MQRankSum=-0.114;QD=12.78;ReadPosRankSum=-0.809;VQSLOD=3.2699;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,71:152:99:1973,0,2161 14 78710044 78710044 G A exonic NRXN3 nonsynonymous SNV NRXN3:NM_001330195:exon2:c.G608A:p.G203D 0.2 0.094 0.16 0.23 0.29 0.25 0.2461 0.1135 0.1102 0.2532 0.3553 0.2765 0.3005 0.2422 0.22 0.11 0.27 0.14 . rs11626446 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2372 0.1073 0.1175 0.2928 0.2500 0.3559 0.2697 0.2553 0.2387 0.2318 0.1087 0.1301 0.3079 0.2323 0.3445 0.2792 0.2633 het 1701.64 117 14 78710044 . G A 1701.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.422;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5444;MQ=59.40;MQ0=0;MQRankSum=1.594;QD=14.54;ReadPosRankSum=-1.244;VQSLOD=5.7304;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,63:117:99:1732,0,1618 14 80669580 80669580 T C exonic DIO2 unknown UNKNOWN 0.46 0.46 0.51 0.44 0.34 0.55 0.4360 0.4708 0.6107 0.4577 0.2947 0.3932 0.3788 0.5079 0.39 0.43 0.37 0.43 . rs225014 COSM4415298;COSM4415297 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.777 0.033 T 0.0 0.026 B 0.0 0.013 B 0.982 0.078 N 1 0.090 P -0.69 0.019 N 1.54 0.301 T 0.11 0.057 N 0.008 0.047 -0.927 0.445 T 0.000 0.000 T . . . -2.825 0.002 0.001 0.565 0.054 0.010 0.039 N c -1.726 -1.665 1.000 0.747 0.534 0.214 0 -1.4 0.085 -0.411 0.071 -1.909 0.006 0.001 0.137 0.021 0.135 2.741 0.049 Thioredoxin-like fold ENSG00000211448.7 Thyroid 0.4096 0.4479 0.5688 0.4320 0.4356 0.2662 0.3573 0.3983 0.4868 0.3686 0.4443 0.5393 0.4396 0.4292 0.2621 0.3341 0.3295 het 487.40 34 14 80669580 . T C 487.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.503;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.224;QD=14.34;ReadPosRankSum=0.707;VQSLOD=11.9634;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,18:34:99:517,0,340 14 81251255 81251255 T C exonic CEP128 nonsynonymous SNV CEP128:NM_152446:exon14:c.A2195G:p.H732R 0.33 0.24 0.36 0.18 0.38 0.54 0.3854 0.2618 0.4435 0.2206 0.2507 0.3958 0.3630 0.5342 0.36 0.27 0.4 0.37 0.38 rs327463 COSM147825 1(stomach);2(large_intestine) . . . . . . . . . . . 0.435 0.094 T 0.996 0.670 D 0.89 0.614 P 0.001 0.424 D 0.456 0.321 P 2.045 0.562 M 1.55 0.299 T -1.36 0.338 N 0.167 0.345 -0.913 0.465 T 0.000 0.000 T . . . 2.334 0.342 18.39 0.983 0.400 0.750 0.364 D c 0.420 0.449 1.000 0.441 0.615 0.372 0 4.88 0.630 2.123 0.414 1.001 0.622 1.000 0.715 0.989 0.536 12.780 0.567 . ENSG00000100629.12 Testis 0.3813 0.2556 0.4263 0.4234 0.2264 0.2510 0.3968 0.3892 0.5079 0.3190 0.2611 0.4081 0.4305 0.2346 0.2540 0.3694 0.3248 het 1474.55 120 14 81251255 . T C 1474.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.468;DP=120;Dels=0.00;FS=5.971;HRun=0;HaplotypeScore=5.9815;MQ=57.78;MQ0=0;MQRankSum=-0.389;QD=12.29;ReadPosRankSum=0.331;VQSLOD=4.2683;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,57:120:99:1505,0,1580 14 81562998 81562998 T C exonic TSHR synonymous SNV TSHR:NM_000369:exon7:c.T561C:p.N187N,TSHR:NM_001018036:exon7:c.T561C:p.N187N,TSHR:NM_001142626:exon7:c.T561C:p.N187N 0.3 0.6 0.14 0.3 0.13 0.19 0.1913 0.5423 0.1202 0.3361 0.1738 0.1386 0.1656 0.1651 0.27 0.53 0.14 0.36 0.25 rs2075179 COSM147826;COSM3754139 1(stomach);3(soft_tissue);1(thyroid);1(large_intestine) Benign|Likely benign|Likely benign not_specified|Hyperthyroidism\x2c_nonautoimmune|Congenital_hypothyroidism RCV000248392.1|RCV000312123.1|RCV000371329.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet:SNOMED_CT CN169374|C1836706:609152:ORPHA424|C0010308:ORPHA442:190268003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1813 0.5509 0.1230 0.1448 0.3369 0.1747 0.1349 0.1576 0.1627 0.2662 0.5338 0.1050 0.1225 0.3342 0.1769 0.1428 0.1592 het 1040.12 95 14 81562998 . T C 1040.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.394;DP=95;Dels=0.00;FS=1.712;HRun=0;HaplotypeScore=1.6120;MQ=57.77;MQ0=0;MQRankSum=0.161;QD=10.95;ReadPosRankSum=0.602;VQSLOD=5.2090;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,43:95:99:1070,0,1215 14 81574959 81574959 A G exonic TSHR synonymous SNV TSHR:NM_001018036:exon9:c.A696G:p.L232L,TSHR:NM_001142626:exon9:c.A759G:p.L253L 0.61 0.64 0.63 0.39 0.67 0.73 0.6468 0.6303 0.6679 0.3397 0.6720 0.6584 0.6729 0.7449 0.64 0.62 0.66 0.59 0.57 rs3783942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6463 0.6237 0.6547 0.7450 0.3352 0.6758 0.6536 0.6636 0.7403 0.6259 0.6285 0.6635 0.7583 0.3247 0.6673 0.6404 0.6612 het 2356.77 199 14 81574959 . A G 2356.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.103;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2747;MQ=58.54;MQ0=0;MQRankSum=-0.718;QD=11.84;ReadPosRankSum=1.129;VQSLOD=4.5344;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,97:199:99:2387,0,2599 14 81575005 81575005 C A exonic TSHR nonsynonymous SNV TSHR:NM_001018036:exon9:c.C742A:p.R248S,TSHR:NM_001142626:exon9:c.C805A:p.R269S 0.61 0.64 0.62 0.39 0.67 0.73 0.6465 0.6265 0.6673 0.3403 0.6720 0.6584 0.6718 0.7452 0.64 0.61 0.66 0.58 0.54 rs3783941 . . not provided not_specified RCV000122257.1 MedGen CN169374 . . . . . . 1.0 0.071 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . -1.17 0.785 T 0.79 0.038 N 0.02 0.007 -1.021 0.235 T 0.000 0.000 T . . . 0.085 0.102 3.453 0.654 0.075 0.002 0.009 N c -1.897 -1.961 0.998 0.359 0.487 0.133 0 -8.59 0.008 -0.643 0.055 -1.108 0.018 0.000 0.063 0.000 0.016 1.354 0.020 Leucine-rich repeat domain\x2c L domain-like . . 0.6460 0.6200 0.6542 0.7448 0.3352 0.6759 0.6535 0.6631 0.7406 0.6233 0.6213 0.6623 0.7583 0.3224 0.6665 0.6397 0.6608 het 1707.40 137 14 81575005 . C A 1707.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.273;DP=137;Dels=0.00;FS=10.786;HRun=1;HaplotypeScore=4.9411;MQ=58.77;MQ0=0;MQRankSum=1.438;QD=12.46;ReadPosRankSum=-2.026;VQSLOD=3.6435;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,65:137:99:1737,0,1778 14 81610583 81610583 G C exonic TSHR nonsynonymous SNV TSHR:NM_000369:exon10:c.G2181C:p.E727D 0.9 0.94 0.86 0.85 0.9 0.91 0.9004 0.9409 0.8768 0.8252 0.8539 0.9090 0.9240 0.9131 0.92 0.94 0.91 0.91 0.83 rs1991517 . . Benign|Likely benign|Likely benign not_specified|Congenital_hypothyroidism|Hyperthyroidism\x2c_nonautoimmune RCV000122254.2|RCV000302729.1|RCV000392451.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet CN169374|C0010308:ORPHA442:190268003|C1836706:609152:ORPHA424 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.025 0.261 N 1 0.090 P . . . -0.92 0.751 T -0.02 0.073 N 0.02 0.004 -0.975 0.361 T 0.000 0.000 T . . . -1.490 0.017 0.003 0.452 0.035 0.009 0.036 N c -1.048 -1.052 0.852 0.250 0.554 0.246 0 2.08 0.260 -0.107 0.108 0.067 0.174 0.619 0.277 0.751 0.322 2.877 0.052 . . . 0.8958 0.9376 0.8699 0.9077 0.8200 0.8484 0.9131 0.8965 0.9133 0.8977 0.9392 0.8675 0.9106 0.8100 0.8495 0.8968 0.8798 hom 5234.07 158 14 81610583 . G C 5234.07 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0174;MQ=59.02;MQ0=0;QD=33.13;VQSLOD=7.4302;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5234,406,0 14 81737076 81737076 A C exonic STON2 nonsynonymous SNV STON2:NM_033104:exon6:c.T2551G:p.S851A,STON2:NM_001256430:exon7:c.T2551G:p.S851A 0.43 0.22 0.49 0.38 0.59 0.57 0.5224 0.2789 0.4666 0.3825 0.5154 0.5765 0.5782 0.5694 0.49 0.29 0.59 0.4 0.43 rs2241621 COSM4148284 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.044 0.410 D 0.997 0.689 D 0.992 0.790 D 0.000 0.491 D 0.001 0.457 P 1.59 0.404 L 2.06 0.205 T -1.19 0.344 N 0.296 0.549 -0.942 0.424 T 0.000 0.000 T . . . 3.452 0.473 23.0 0.996 0.728 0.884 0.480 D c 0.370 0.316 1.000 0.747 0.615 0.372 0 4.41 0.524 4.343 0.589 1.088 0.866 1.000 0.715 0.329 0.242 11.853 0.515 Mu homology domain . . 0.5245 0.2733 0.4692 0.5826 0.3829 0.5050 0.5829 0.5503 0.5681 0.4675 0.2860 0.4797 0.6033 0.3744 0.5043 0.5665 0.5377 het 3995.39 245 14 81737076 . A C 3995.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.019;DP=245;DS;Dels=0.00;FS=2.820;HRun=0;HaplotypeScore=6.4290;MQ=59.09;MQ0=0;MQRankSum=-1.432;QD=16.31;ReadPosRankSum=0.041;VQSLOD=4.0588;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,127:245:99:3347,0,3341 14 81743718 81743718 C T exonic STON2 nonsynonymous SNV STON2:NM_033104:exon5:c.G1937A:p.R646H,STON2:NM_001256430:exon6:c.G1937A:p.R646H 0.069 0.12 0.048 0.006 0.094 0.057 0.0913 0.1176 0.0358 0.0113 0.1263 0.1087 0.0664 0.0728 0.11 0.12 0.1 0.087 0.13 rs34323725 . . . . . . . . . . . . . 0.333 0.130 T 0.121 0.251 B 0.025 0.193 B 0.003 0.349 N 0.999 0.217 P 0.27 0.100 N 2.16 0.192 T 1.62 0.006 N 0.052 0.140 -0.959 0.393 T 0.000 0.000 T . . . 0.520 0.144 7.582 0.683 0.083 0.069 0.128 N c -0.935 -0.891 1.000 0.409 0.732 0.924 0 0.185 0.143 -0.815 0.046 0.935 0.490 0.000 0.063 0.970 0.461 7.126 0.245 Mu homology domain . . 0.0875 0.1208 0.0411 0.0520 0.0124 0.1261 0.1074 0.0824 0.0758 0.1118 0.1209 0.0609 0.0530 0.0080 0.1262 0.1182 0.1141 het 1509.19 116 14 81743718 . C T 1509.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.248;DP=116;Dels=0.00;FS=4.925;HRun=0;HaplotypeScore=1.9867;MQ=59.80;MQ0=0;MQRankSum=0.905;QD=13.01;ReadPosRankSum=-0.208;VQSLOD=5.6785;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,54:116:99:1539,0,1667 14 81744736 81744736 A G exonic STON2 nonsynonymous SNV STON2:NM_033104:exon5:c.T919C:p.S307P,STON2:NM_001256430:exon6:c.T919C:p.S307P 0.74 0.84 0.79 0.54 0.82 0.71 0.8101 0.8445 0.8496 0.5598 0.7903 0.8486 0.8095 0.7441 0.85 0.84 0.85 0.84 0.84 rs3813535 COSM3999387 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.385 N 0.999 0.211 P -2.095 0.002 N 1.63 0.280 T 1.29 0.010 N 0.072 0.239 -0.960 0.393 T 0.000 0.000 T . . . 0.420 0.134 6.782 0.135 0.003 0.035 0.086 N c -0.723 -0.385 1.000 0.747 0.563 0.310 0 6.17 0.997 3.278 0.511 0.138 0.222 1.000 0.715 0.691 0.307 15.859 0.787 Stonin-2\x2c N-terminal . . 0.8102 0.8459 0.8383 0.8915 0.5579 0.7842 0.8506 0.8226 0.7469 0.8298 0.8472 0.8660 0.8775 0.5586 0.7881 0.8557 0.8310 hom 6605.52 206 14 81744736 . A G 6605.52 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5704;MQ=59.82;MQ0=0;QD=32.07;VQSLOD=9.2038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6605,515,0 14 86088056 86088056 T C exonic FLRT2 synonymous SNV FLRT2:NM_001346143:exon2:c.T198C:p.T66T,FLRT2:NM_001346144:exon2:c.T198C:p.T66T,FLRT2:NM_001346145:exon2:c.T198C:p.T66T,FLRT2:NM_001346146:exon2:c.T198C:p.T66T,FLRT2:NM_013231:exon2:c.T198C:p.T66T 0.99 1. 1. 0.97 1. 1. 0.9979 0.9998 0.9997 0.9720 1 1 0.9989 0.9993 . . . 0.99 1. rs10141266 COSM4595212 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9998 0.9998 1 0.9698 1 1 0.9989 0.9995 0.9982 0.9999 1 1 0.9691 1 0.9999 0.9980 hom 7059.46 225 14 86088056 . T C 7059.46 Mask AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9916;MQ=59.63;MQ0=0;QD=31.38;VQSLOD=8.6662;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,224:225:99:7058,581,0 14 88401213 88401213 T C exonic GALC nonsynonymous SNV GALC:NM_001201401:exon16:c.A1852G:p.T618A,GALC:NM_000153:exon17:c.A1921G:p.T641A,GALC:NM_001201402:exon17:c.A1843G:p.T615A 0.94 0.84 0.98 0.93 1. 0.99 0.9828 0.8607 0.9918 0.9375 1 0.9996 0.9922 0.9975 0.96 0.87 1. 0.91 1. rs421262 . . Benign|Benign not_specified|Galactosylceramide_beta-galactosidase_deficiency RCV000078197.6|RCV000290698.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0023521:245200:ORPHA487:192782005 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.384 N 1 0.239 P . . . -2.78 0.910 D 1.45 0.008 N 0.021 0.018 -0.952 0.407 T 0.000 0.000 T . . . -2.298 0.005 0.001 0.147 0.003 0.010 0.038 N c -1.558 -1.593 0.148 0.174 0.706 0.609 0 -3.09 0.050 0.659 0.245 -2.789 0.002 0.107 0.227 0.000 0.016 10.781 0.454 . . . 0.9848 0.8585 0.9920 0.9984 0.9391 1 0.9995 0.9902 0.9970 0.9575 0.8652 0.9952 1 0.9315 1 0.9992 0.9857 hom 1498.68 53 14 88401213 . T C 1498.68 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;QD=28.28;VQSLOD=7.8882;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1532,123,0 14 88407875 88407875 T A exonic GALC synonymous SNV GALC:NM_001201401:exon14:c.A1629T:p.V543V,GALC:NM_000153:exon15:c.A1698T:p.V566V,GALC:NM_001201402:exon15:c.A1620T:p.V540V 0.94 0.84 0.98 0.93 1. 0.99 0.9828 0.8604 0.9920 0.9374 1 0.9996 0.9922 0.9975 0.96 0.87 1. 0.91 0.98 rs421466 . . Benign|Benign not_specified|Galactosylceramide_beta-galactosidase_deficiency RCV000078195.6|RCV000360908.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0023521:245200:ORPHA487:192782005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9849 0.8584 0.9921 0.9984 0.9390 1 0.9995 0.9901 0.9970 0.9575 0.8651 0.9952 1 0.9311 1 0.9992 0.9867 hom 3671.20 119 14 88407875 . T A 3671.20 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6882;MQ=57.91;MQ0=0;QD=30.85;VQSLOD=7.2640;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3671,289,0 14 88407888 88407888 A G exonic GALC nonsynonymous SNV GALC:NM_001201401:exon14:c.T1616C:p.I539T,GALC:NM_000153:exon15:c.T1685C:p.I562T,GALC:NM_001201402:exon15:c.T1607C:p.I536T 0.45 0.65 0.38 0.23 0.49 0.41 0.4406 0.6089 0.3034 0.1827 0.4723 0.4745 0.4233 0.4216 0.52 0.61 0.48 0.48 0.5 rs398607 COSM4785197;COSM3754140 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) Benign|Benign not_specified|Galactosylceramide_beta-galactosidase_deficiency RCV000078194.6|RCV000399633.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0023521:245200:ORPHA487:192782005 . . . . . . 0.017 0.555 D 0.515 0.389 P 0.156 0.408 B 0.002 0.388 N 0.992 0.239 P 2.035 0.558 M -3.33 0.939 D -2.99 0.630 D 0.309 0.531 -1.005 0.286 T 0.000 0.000 T . . . 3.305 0.456 22.9 0.994 0.614 0.981 0.792 D c 0.193 0.200 1.000 0.747 0.706 0.609 0 5.73 0.897 9.290 0.951 1.140 0.893 0.978 0.348 0.839 0.350 16.026 0.803 . ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000140030.4|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Testis 0.4344 0.6115 0.3180 0.4874 0.1753 0.4774 0.4757 0.4449 0.4196 0.4859 0.5974 0.3266 0.4901 0.1367 0.4808 0.4688 0.4663 het 1365.42 107 14 88407888 . A G 1365.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.837;DP=107;Dels=0.00;FS=3.915;HRun=0;HaplotypeScore=1.7234;MQ=57.67;MQ0=0;MQRankSum=-1.374;QD=12.76;ReadPosRankSum=0.626;VQSLOD=4.3010;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,55:107:99:1395,0,1388 14 88411947 88411947 T C exonic GALC synonymous SNV GALC:NM_001201401:exon13:c.A1551G:p.T517T,GALC:NM_000153:exon14:c.A1620G:p.T540T,GALC:NM_001201402:exon14:c.A1542G:p.T514T 0.94 0.85 0.98 0.93 1. 0.99 0.9832 0.8652 0.9920 0.9376 0.9997 0.9996 0.9922 0.9975 0.96 0.88 1. 0.94 1. rs367327 . . Benign not_specified RCV000153295.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9853 0.8631 0.9924 0.9984 0.9391 0.9999 0.9995 0.9906 0.9970 0.9591 0.8706 0.9952 1 0.9316 1 0.9992 0.9868 hom 3368.12 118 14 88411947 . T C 3368.12 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7309;MQ=59.61;MQ0=0;QD=28.54;VQSLOD=7.9050;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3367,277,0 14 88414211 88414211 G A exonic GALC synonymous SNV GALC:NM_001201401:exon12:c.C1281T:p.S427S,GALC:NM_000153:exon13:c.C1350T:p.S450S,GALC:NM_001201402:exon13:c.C1272T:p.S424S 0.37 0.44 0.33 0.23 0.41 0.39 0.3734 0.4290 0.2664 0.1820 0.4029 0.4015 0.3647 0.3886 0.41 0.43 0.4 0.36 0.45 rs398076 COSM5958469;COSM3999388 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Galactosylceramide_beta-galactosidase_deficiency RCV000078191.6|RCV000277817.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0023521:245200:ORPHA487:192782005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3688 0.4345 0.2762 0.4170 0.1737 0.4040 0.4011 0.3831 0.3862 0.3908 0.4246 0.2776 0.4338 0.1361 0.4137 0.3970 0.4049 het 570.64 63 14 88414211 . G A 570.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.361;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=58.49;MQ0=0;MQRankSum=0.495;QD=9.06;ReadPosRankSum=-0.204;VQSLOD=6.0085;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,23:63:99:601,0,993 14 88442712 88442712 C T exonic GALC nonsynonymous SNV GALC:NM_001201401:exon6:c.G673A:p.D225N,GALC:NM_000153:exon7:c.G742A:p.D248N,GALC:NM_001201402:exon7:c.G664A:p.D222N 0.08 0.017 0.17 0.005 0.16 0.097 0.1244 0.0372 0.1428 0.0043 0.1678 0.1521 0.13 0.0961 0.12 0.044 0.15 0.054 0.13 rs34362748 COSM3765774 1(liver) Benign|Likely benign not_specified|Galactosylceramide_beta-galactosidase_deficiency RCV000078206.5|RCV000340530.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0023521:245200:ORPHA487:192782005 . . . . . . 0.039 0.427 D 0.707 0.441 P 0.102 0.468 B 0.000 0.629 D 0.000 0.588 P 3.06 0.872 M -6.7 0.998 D -3.36 0.665 D 0.145 0.171 -1.382 0.000 T 0.144 0.467 T . . . 6.001 0.825 27.8 0.998 0.877 0.959 0.664 D c 0.417 0.435 0.889 0.258 0.693 0.558 0 5.32 0.753 5.682 0.676 0.807 0.329 1.000 0.715 0.912 0.389 11.966 0.521 Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000054983.12|ENSG00000140030.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.1267 0.0371 0.1441 0.1146 0.0020 0.1606 0.1546 0.1326 0.0991 0.1195 0.0442 0.1471 0.0894 0.0012 0.1495 0.1663 0.1477 het 996.73 148 14 88442712 . C T 996.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.713;DP=148;Dels=0.00;FS=1.416;HRun=1;HaplotypeScore=6.0621;MQ=58.77;MQ0=0;MQRankSum=1.718;QD=6.73;ReadPosRankSum=-0.334;VQSLOD=3.5663;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,47:148:99:1027,0,2732 14 88477413 88477413 C T exonic GPR65 synonymous SNV GPR65:NM_003608:exon2:c.C222T:p.T74T 0.82 0.78 0.81 0.98 0.68 0.86 0.7460 0.7675 0.8845 0.9795 0.6417 0.6736 0.7203 0.8489 0.7 0.77 0.67 0.86 0.62 rs6574978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7477 0.7696 0.8686 0.6433 0.9833 0.6402 0.6757 0.7176 0.8503 0.7195 0.7685 0.8541 0.6467 0.9900 0.6420 0.6747 0.7086 het 1965.35 168 14 88477413 . C T 1965.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.177;DP=168;Dels=0.00;FS=2.983;HRun=1;HaplotypeScore=1.6609;MQ=59.15;MQ0=0;MQRankSum=0.116;QD=11.70;ReadPosRankSum=0.543;VQSLOD=6.6815;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,71:168:99:1995,0,2688 14 88651962 88651962 C T exonic KCNK10 nonsynonymous SNV KCNK10:NM_021161:exon7:c.G1534A:p.A512T,KCNK10:NM_138317:exon7:c.G1549A:p.A517T,KCNK10:NM_138318:exon7:c.G1549A:p.A517T 0.1 0.015 0.14 0.0089 0.29 0.091 0.2068 0.0539 0.1020 0.0196 0.3134 0.2882 0.2373 0.1011 0.21 0.065 0.28 0.13 0.27 rs17762463 COSM4415930;COSM4415931;COSM4415929 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.013 0.546 D 0.043 0.202 B 0.01 0.139 B 0.150 0.030 N 1 0.090 P -0.205 0.041 N -2.76 0.909 D -0.11 0.087 N 0.078 0.189 -1.042 0.167 T 0.000 0.000 T . . . 0.953 0.185 10.39 0.974 0.331 0.114 0.164 N c -0.675 -0.647 0.998 0.362 0.615 0.372 0 3.49 0.389 1.950 0.397 0.935 0.490 0.105 0.227 0.174 0.211 12.417 0.547 . . . 0.2061 0.0511 0.1133 0.2729 0.0168 0.3144 0.2844 0.2284 0.1023 0.2142 0.0582 0.1277 0.3179 0.0223 0.3067 0.3019 0.2930 het 2031.79 153 14 88651962 . C T 2031.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.046;DP=153;Dels=0.00;FS=4.739;HRun=0;HaplotypeScore=0.9665;MQ=59.76;MQ0=0;MQRankSum=0.524;QD=13.28;ReadPosRankSum=0.334;VQSLOD=6.3358;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,76:153:99:2062,0,1935 14 88652389 88652389 C T exonic KCNK10 synonymous SNV KCNK10:NM_021161:exon7:c.G1107A:p.A369A,KCNK10:NM_138317:exon7:c.G1122A:p.A374A,KCNK10:NM_138318:exon7:c.G1122A:p.A374A 0.22 0.028 0.16 0.37 0.27 0.3 0.2563 0.0659 0.1166 0.3875 0.2547 0.2804 0.2597 0.3019 0.21 0.067 0.28 0.18 0.17 rs3742692 COSM1477811;COSM433445;COSM433444 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2533 0.0599 0.1208 0.2715 0.3910 0.2611 0.2813 0.2507 0.3037 0.2219 0.0699 0.1615 0.2649 0.3984 0.2656 0.2825 0.2378 het 874.48 62 14 88652389 . C T 874.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.976;DP=62;Dels=0.00;FS=11.817;HRun=0;HaplotypeScore=4.7641;MQ=59.02;MQ0=0;MQRankSum=1.010;QD=14.10;ReadPosRankSum=1.010;VQSLOD=4.2465;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,34:62:99:904,0,637 14 88693725 88693725 G C exonic KCNK10 synonymous SNV KCNK10:NM_021161:exon4:c.C660G:p.V220V,KCNK10:NM_138317:exon4:c.C675G:p.V225V,KCNK10:NM_138318:exon4:c.C675G:p.V225V 0.34 0.45 0.2 0.44 0.22 0.32 0.2773 0.4135 0.1620 0.4665 0.2239 0.2432 0.2466 0.3392 0.29 0.4 0.24 0.39 0.16 rs2277524 COSM4417796;COSM4417797;COSM4417798 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2660 0.4133 0.1612 0.2445 0.4698 0.2305 0.2428 0.2494 0.3112 0.2997 0.4078 0.1933 0.2 0.4627 0.2315 0.2488 0.2128 het 1427.46 111 14 88693725 . G C 1427.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.118;DP=111;Dels=0.00;FS=1.653;HRun=0;HaplotypeScore=2.3913;MQ=58.21;MQ0=0;MQRankSum=0.799;QD=12.86;ReadPosRankSum=1.094;VQSLOD=4.9103;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,54:111:99:1457,0,1500 14 88862529 88862529 G A exonic SPATA7 nonsynonymous SNV SPATA7:NM_001040428:exon3:c.G124A:p.V42M,SPATA7:NM_018418:exon4:c.G220A:p.V74M 0.41 0.57 0.28 0.36 0.3 0.43 0.3473 0.5443 0.2284 0.3128 0.2696 0.3369 0.3448 0.3974 0.41 0.54 0.34 0.53 0.37 rs3179969 . . Likely benign|Likely benign|Benign Retinitis_Pigmentosa\x2c_Recessive|Leber_congenital_amaurosis|not_specified RCV000307706.1|RCV000343821.1|RCV000389871.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen CN239466|C0339527:ORPHA65:193413001|CN169374 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.355 0.137 N 1.000 0.090 P -1.08 0.010 N 2.34 0.369 T 1.11 0.012 N 0.028 0.323 -0.917 0.460 T 0.000 0.000 T . . . 0.067 0.100 3.255 0.871 0.164 0.046 0.101 N c -1.084 -0.876 0.001 0.073 0.638 0.428 0 2.45 0.288 1.074 0.301 -0.506 0.051 1.000 0.715 0.511 0.273 3.822 0.083 . ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000222990.1|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000042317.12|ENSG00000258983.1|ENSG00000258983.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000258983.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000070778.8|ENSG00000222990.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid 0.3362 0.5505 0.2340 0.3369 0.3168 0.2795 0.3366 0.3097 0.3960 0.3876 0.5328 0.2422 0.3467 0.3350 0.2897 0.3444 0.3276 hom 1656.87 58 14 88862529 . G A 1656.87 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.16;MQ0=0;QD=28.57;VQSLOD=7.1573;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1690,129,0 14 88935925 88935925 A G exonic PTPN21 synonymous SNV PTPN21:NM_007039:exon17:c.T3153C:p.T1051T 0.4 0.52 0.28 0.38 0.3 0.42 0.3431 0.5054 0.2228 0.3287 0.2692 0.3349 0.3422 0.3950 0.4 0.51 0.34 0.51 0.4 rs2297129 COSM3999394 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3333 0.5097 0.2294 0.3353 0.3300 0.2793 0.3358 0.3045 0.3949 0.3740 0.4887 0.2440 0.3444 0.3404 0.2895 0.3420 0.3214 hom 3159.22 106 14 88935925 . A G 3159.22 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4245;MQ=59.65;MQ0=0;QD=29.80;VQSLOD=8.3503;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3192,262,0 14 88938652 88938652 A G exonic PTPN21 nonsynonymous SNV PTPN21:NM_007039:exon15:c.T2807C:p.V936A 0.4 0.52 0.28 0.38 0.3 0.43 0.3431 0.5052 0.2230 0.3288 0.2691 0.3351 0.3411 0.3946 0.4 0.51 0.34 0.51 0.4 rs2274736 . . . . . . . . . . . . . 0.37 0.115 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.192 P -0.99 0.012 N 2.65 0.127 T 1.15 0.012 N 0.032 0.065 -0.940 0.426 T 0.000 0.000 T . . . 0.680 0.159 8.697 0.820 0.135 0.383 0.257 N c -0.724 -0.519 1.000 0.458 0.707 0.730 0 5.86 0.939 4.048 0.569 0.138 0.222 1.000 0.715 0.136 0.201 15.262 0.732 PTP type protein phosphatase|Protein-tyrosine phosphatase-like ENSG00000042317.12|ENSG00000222990.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000222990.1|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000042317.12|ENSG00000258983.1|ENSG00000258983.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000258983.1|ENSG00000042317.12|ENSG00000258983.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000070778.8|ENSG00000258983.1|ENSG00000222990.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Thyroid 0.3332 0.5097 0.2293 0.3353 0.3297 0.2792 0.3360 0.3043 0.3943 0.3738 0.4886 0.2440 0.3433 0.3387 0.2891 0.3419 0.3214 hom 3795.04 126 14 88938652 . A G 3795.04 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;QD=30.12;VQSLOD=8.7688;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3794,298,0 14 88945591 88945591 A G exonic PTPN21 synonymous SNV PTPN21:NM_007039:exon13:c.T2184C:p.P728P 0.4 0.52 0.28 0.38 0.3 0.42 0.3545 0.5181 0.2277 0.3367 0.2831 0.3467 0.3537 0.4107 0.39 0.5 0.34 0.27 0.33 rs879932 COSM3754143 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3344 0.5140 0.2302 0.3375 0.3313 0.2809 0.3371 0.3041 0.3951 0.3738 0.4890 0.2428 0.3444 0.3396 0.2898 0.3417 0.3207 hom 1186.62 39 14 88945591 . A G 1186.62 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=30.43;VQSLOD=8.3367;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:96.29:1220,96,0 14 88946622 88946622 G A exonic PTPN21 nonsynonymous SNV PTPN21:NM_007039:exon13:c.C1153T:p.L385F 0.36 0.38 0.27 0.38 0.3 0.42 0.3313 0.3763 0.2177 0.3288 0.2688 0.3349 0.3381 0.3939 0.35 0.37 0.34 0.42 0.39 rs2401751 COSM3999395 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.258 0.167 T 0.236 0.291 B 0.03 0.205 B 0.002 0.386 N 1.000 0.205 P 1.01 0.254 L -0.77 0.735 T 0.52 0.029 N 0.017 0.009 -0.988 0.331 T 0.000 0.000 T . . . -0.474 0.057 0.254 0.967 0.300 0.730 0.354 D c -0.827 -0.757 0.976 0.297 0.707 0.730 0 0.973 0.187 4.653 0.609 -0.346 0.071 1.000 0.715 0.360 0.248 3.566 0.074 . ENSG00000222990.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000258983.1|ENSG00000258983.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000258983.1|ENSG00000042317.12|ENSG00000258983.1|ENSG00000222990.1|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000042317.12|ENSG00000070778.8|ENSG00000258983.1|ENSG00000222990.1 Adipose_Subcutaneous|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Thyroid 0.3236 0.3770 0.2231 0.3352 0.3295 0.2792 0.3354 0.2981 0.3935 0.3369 0.3598 0.2327 0.3444 0.3393 0.2891 0.3414 0.3180 hom 3017.18 101 14 88946622 . G A 3017.18 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7199;MQ=59.54;MQ0=0;QD=29.87;VQSLOD=8.6678;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3050,235,0 14 89151392 89151392 C A exonic EML5 synonymous SNV EML5:NM_183387:exon20:c.G2949T:p.V983V 0.027 0.003 0.026 . 0.075 0.037 0.0556 0.0125 0.0192 0.0002 0.0668 0.0778 0.0713 0.0408 0.061 0.017 0.081 0.022 . rs17204164 COSM3754145;COSM3754144 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0542 0.0116 0.0208 0.0641 5.876e-05 0.0708 0.0778 0.0545 0.0402 0.0527 0.0134 0.0266 0.0993 0 0.0773 0.0757 0.0574 het 1869.54 158 14 89151392 . C A 1869.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.952;DP=158;Dels=0.00;FS=0.590;HRun=1;HaplotypeScore=2.7613;MQ=59.76;MQ0=0;MQRankSum=0.000;QD=11.83;ReadPosRankSum=1.180;VQSLOD=6.3491;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,75:158:99:1900,0,2155 14 90756760 90756760 A T exonic NRDE2 synonymous SNV NRDE2:NM_017970:exon10:c.T2034A:p.T678T 0.12 0.027 0.19 0.077 0.17 0.18 0.1887 0.0519 0.2382 0.0777 0.2218 0.2042 0.2106 0.2214 0.15 0.053 0.2 0.065 0.16 rs3742671 COSM3754150 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1905 0.0479 0.2298 0.1664 0.0764 0.2238 0.2027 0.1893 0.2223 0.1643 0.0515 0.1969 0.1788 0.0648 0.2365 0.2175 0.2296 het 1031.87 60 14 90756760 . A T 1031.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.497;DP=60;Dels=0.00;FS=1.025;HRun=0;HaplotypeScore=0.9734;MQ=60.00;MQ0=0;MQRankSum=0.091;QD=17.20;ReadPosRankSum=0.152;VQSLOD=5.9325;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,37:60:99:1062,0,640 14 90767607 90767607 C T exonic NRDE2 synonymous SNV NRDE2:NM_017970:exon7:c.G1521A:p.V507V 0.68 0.57 0.65 0.8 0.67 0.72 0.6969 0.6028 0.6912 0.8114 0.6846 0.6940 0.6715 0.7187 0.66 0.6 0.7 0.7 0.7 rs3825661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6958 0.6023 0.6881 0.6615 0.8101 0.6808 0.6948 0.6714 0.7168 0.6788 0.6001 0.6782 0.6523 0.8034 0.6865 0.7071 0.7218 het 1047.49 111 14 90767607 . C T 1047.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.562;DP=111;Dels=0.00;FS=2.520;HRun=3;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;MQRankSum=1.096;QD=9.44;ReadPosRankSum=-1.222;VQSLOD=5.7340;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,45:111:99:1077,0,1705 14 91084338 91084338 C T exonic TTC7B synonymous SNV TTC7B:NM_001010854:exon16:c.G1803A:p.E601E,TTC7B:NM_001320421:exon16:c.G1497A:p.E499E 0.47 0.72 0.39 0.42 0.27 0.44 0.3369 0.6552 0.3590 0.4593 0.2130 0.2618 0.3271 0.4106 0.4 0.64 0.27 0.49 0.33 rs754247 COSM3999404;COSM3999405 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3300 0.6649 0.3603 0.2126 0.4543 0.2136 0.2686 0.3110 0.4094 0.3817 0.6557 0.3568 0.2053 0.4482 0.2109 0.2657 0.2963 het 2078.01 137 14 91084338 . C T 2078.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.516;DP=137;Dels=0.00;FS=7.874;HRun=1;HaplotypeScore=3.4866;MQ=59.49;MQ0=0;MQRankSum=0.970;QD=15.17;ReadPosRankSum=1.181;VQSLOD=4.6104;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,78:137:99:2108,0,1689 14 91123575 91123575 T C exonic TTC7B synonymous SNV TTC7B:NM_001010854:exon11:c.A1284G:p.P428P,TTC7B:NM_001320421:exon11:c.A978G:p.P326P 0.89 0.84 0.85 0.98 0.86 0.93 0.8873 0.8458 0.9041 0.9856 0.8974 0.8667 0.8885 0.9295 0.86 0.85 0.87 0.85 0.87 rs3742660 COSM4148296;COSM4148295 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8900 0.8510 0.8988 0.9114 0.9852 0.8997 0.8642 0.8773 0.9284 0.8776 0.8493 0.8699 0.9040 0.9858 0.8970 0.8775 0.8809 hom 2634.53 96 14 91123575 . T C 2634.53 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5493;MQ=60.00;MQ0=0;QD=27.44;VQSLOD=6.9868;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2668,214,0 14 91161862 91161862 C T exonic TTC7B synonymous SNV TTC7B:NM_001010854:exon6:c.G759A:p.T253T,TTC7B:NM_001320421:exon6:c.G453A:p.T151T 0.62 0.49 0.66 0.69 0.63 0.68 0.6510 0.5131 0.7411 0.6833 0.6722 0.6433 0.6313 0.6817 0.61 0.53 0.65 0.51 0.54 rs10146731 COSM3754152;COSM3754151 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6545 0.5136 0.7310 0.6859 0.6777 0.6614 0.6413 0.6309 0.6735 0.6134 0.5116 0.6875 0.6490 0.6917 0.6616 0.6466 0.6373 hom 1673.76 59 14 91161862 . C T 1673.76 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=58.97;MQ0=0;QD=28.37;VQSLOD=8.1815;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1707,129,0 14 91642395 91642395 G A exonic C14orf159 nonsynonymous SNV C14orf159:NM_001102368:exon7:c.G725A:p.S242N,C14orf159:NM_001286471:exon7:c.G710A:p.S237N,C14orf159:NM_024952:exon7:c.G710A:p.S237N,C14orf159:NM_001102367:exon8:c.G710A:p.S237N,C14orf159:NM_001102366:exon9:c.G710A:p.S237N,C14orf159:NM_001102369:exon9:c.G674A:p.S225N,C14orf159:NM_001286472:exon9:c.G725A:p.S242N,C14orf159:NM_001286470:exon10:c.G725A:p.S242N 0.025 0.0015 0.046 . 0.056 0.036 0.0439 0.0094 0.0298 0.0005 0.0455 0.0523 0.0568 0.0624 0.041 0.01 0.056 0.033 0.025 rs34302825 COSM5880820 1(soft_tissue) . . . . . . . . . . . 0.115 0.292 T 0.094 0.247 B 0.062 0.290 B 0.000 0.481 D 0.679 0.303 N 0.71 0.187 N 0.94 0.437 T -1.45 0.362 N 0.068 0.055 -1.074 0.085 T 0.010 0.037 T . . . 0.774 0.168 9.303 0.959 0.276 0.744 0.361 D c -0.533 -0.472 0.566 0.214 0.706 0.609 0 2.01 0.254 1.219 0.319 0.962 0.568 0.997 0.399 0.741 0.319 7.676 0.275 . . . 0.0433 0.0075 0.0290 0.0433 0.0004 0.0460 0.0535 0.0480 0.0606 0.0385 0.0086 0.0346 0.0265 0.0006 0.0484 0.0572 0.0531 het 284.18 51 14 91642395 . G A 284.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.600;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.18;MQ0=0;MQRankSum=0.176;QD=5.57;ReadPosRankSum=1.664;VQSLOD=5.3333;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,15:51:99:314,0,1140 14 91739081 91739081 A G exonic CCDC88C nonsynonymous SNV CCDC88C:NM_001080414:exon30:c.T5975C:p.L1992P 0.81 0.99 0.8 0.58 0.89 0.71 0.8524 0.9805 0.7884 0.5883 0.9480 0.8966 0.8513 0.7529 0.92 0.98 0.9 0.78 . rs941920 . . Benign not_specified RCV000145447.1 MedGen CN169374 . . . . . . 0.419 0.098 T 0.0 0.026 B 0.0 0.013 B 0.608 0.057 N 1 0.090 P -1.32 0.007 N 2.44 0.152 T 1.92 0.004 N 0.071 0.059 -1.016 0.250 T 0.000 0.000 T . . . -0.615 0.049 0.115 0.202 0.007 0.042 0.096 N c -1.661 -1.662 0.993 0.328 0.672 0.522 0 -2.61 0.058 -0.254 0.087 -0.344 0.071 0.000 0.063 0.000 0.016 2.872 0.052 . . . 0.8474 0.9812 0.7930 0.8603 0.5747 0.9461 0.8963 0.8674 0.7509 0.9103 0.9797 0.8115 0.8775 0.5806 0.9481 0.9025 0.9143 hom 1073.69 32 14 91739081 . A G 1073.69 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.55;VQSLOD=14.1792;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:87.28:1107,87,0 14 91760522 91760522 C T exonic CCDC88C synonymous SNV CCDC88C:NM_001080414:exon23:c.G4107A:p.Q1369Q 0.2 0.49 0.14 0.084 0.12 0.072 0.1393 0.4469 0.1576 0.0921 0.1217 0.1155 0.1225 0.0723 0.21 0.41 0.11 0.26 . rs12891713 COSM3754158;COSM3754157 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000145441.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1377 0.4527 0.1602 0.1529 0.0913 0.1197 0.1151 0.1428 0.0715 0.2129 0.4445 0.1348 0.1376 0.1 0.1289 0.1210 0.1388 het 2833.03 249 14 91760522 . C T 2833.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.805;DP=249;DS;Dels=0.00;FS=3.603;HRun=1;HaplotypeScore=4.4858;MQ=59.21;MQ0=0;MQRankSum=-0.728;QD=11.38;ReadPosRankSum=-0.469;VQSLOD=4.9313;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:136,112:249:99:2863,0,3835 14 91773494 91773494 G A exonic CCDC88C nonsynonymous SNV CCDC88C:NM_001080414:exon18:c.C3083T:p.A1028V 0.17 0.12 0.17 0.24 0.11 0.21 0.1596 0.1212 0.1856 0.2298 0.1640 0.1343 0.1764 0.2265 0.12 0.11 0.13 0.098 . rs1970911 COSM3754160;COSM3754159 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign not_specified RCV000145428.1 MedGen CN169374 . . . . . . 0.335 0.129 T 0.004 0.112 B 0.001 0.040 B . . . 1 0.090 P -0.705 0.018 N 2.52 0.142 T -1.14 0.293 N 0.039 0.019 -0.903 0.477 T 0.000 0.000 T . . . 0.421 0.134 6.796 0.775 0.115 0.064 0.123 N c -1.519 -1.549 0.974 0.294 0.646 0.442 0 -4.86 0.029 -0.348 0.077 -0.428 0.059 0.000 0.063 0.000 0.016 2.875 0.052 . . . 0.1596 0.1173 0.1817 0.1476 0.2281 0.1670 0.1297 0.1417 0.2282 0.1401 0.1161 0.1695 0.1656 0.2323 0.1714 0.1338 0.1520 het 435.02 51 14 91773494 . G A 435.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.097;DP=51;Dels=0.00;FS=2.692;HRun=0;HaplotypeScore=4.2748;MQ=58.63;MQ0=0;MQRankSum=0.118;QD=8.53;ReadPosRankSum=-0.785;VQSLOD=5.1638;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,20:51:99:465,0,759 14 91773568 91773568 T C exonic CCDC88C synonymous SNV CCDC88C:NM_001080414:exon18:c.A3009G:p.L1003L 0.48 0.55 0.49 0.36 0.6 0.38 0.5336 0.5532 0.5138 0.3713 0.6261 0.5820 0.4955 0.3903 0.58 0.57 0.58 0.55 . rs1970912 COSM3754162;COSM3754161 1(thyroid);1(large_intestine) Benign not_specified RCV000145427.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5329 0.5451 0.5188 0.5062 0.3676 0.6262 0.5844 0.5494 0.3880 0.5752 0.5510 0.5407 0.5 0.3599 0.6354 0.5999 0.6090 het 729.48 67 14 91773568 . T C 729.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.737;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9847;MQ=58.96;MQ0=0;MQRankSum=-0.218;QD=10.89;ReadPosRankSum=-0.861;VQSLOD=6.3182;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,31:67:99:759,0,882 14 91948043 91948043 T C exonic PPP4R3A synonymous SNV PPP4R3A:NM_001284280:exon4:c.A792G:p.T264T 0.046 0.02 0.06 0.003 0.12 0.045 0.0755 0.0394 0.0503 0.0062 0.0609 0.1011 0.0883 0.0541 0.081 0.037 0.1 0.076 0.15 rs17127374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0758 0.0372 0.0551 0.1187 0.0060 0.0645 0.1017 0.0926 0.0543 0.0673 0.0387 0.0692 0.1225 0.0068 0.0587 0.0909 0.0723 het 1387.04 89 14 91948043 . T C 1387.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.887;DP=89;Dels=0.00;FS=5.517;HRun=0;HaplotypeScore=1.9945;MQ=58.56;MQ0=0;MQRankSum=-0.845;QD=15.58;ReadPosRankSum=0.462;VQSLOD=4.8406;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,52:89:99:1417,0,904 14 92084004 92084004 C G exonic CATSPERB synonymous SNV CATSPERB:NM_024764:exon20:c.G2337C:p.V779V 0.8 0.63 0.82 0.98 0.77 0.87 0.7916 0.6491 0.8870 0.9749 0.8205 0.7524 0.7862 0.8636 0.71 0.65 0.75 0.73 0.65 rs1620238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7921 0.6332 0.8735 0.7361 0.9752 0.8227 0.7473 0.7780 0.8550 0.7503 0.6390 0.8377 0.7417 0.9723 0.8251 0.7660 0.7949 hom 2685.90 85 14 92084004 . C G 2685.90 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=31.60;VQSLOD=8.9760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2719,208,0 14 92088016 92088016 G A exonic CATSPERB synonymous SNV CATSPERB:NM_024764:exon19:c.C2196T:p.I732I 0.8 0.63 0.82 0.98 0.77 0.87 0.7897 0.6383 0.8855 0.9743 0.8197 0.7514 0.7870 0.8641 0.71 0.64 0.75 0.73 0.73 rs1296082 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7968 0.6361 0.8766 0.7364 0.9756 0.8233 0.7499 0.7846 0.8621 0.7486 0.6336 0.8377 0.74 0.9723 0.8243 0.7657 0.7959 hom 4587.13 145 14 92088016 . G A 4587.13 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=31.64;VQSLOD=9.3010;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4587,358,0 14 92268615 92268615 T G exonic TC2N nonsynonymous SNV TC2N:NM_001128595:exon4:c.A452C:p.K151T,TC2N:NM_001128596:exon4:c.A452C:p.K151T,TC2N:NM_001289134:exon4:c.A452C:p.K151T,TC2N:NM_152332:exon4:c.A452C:p.K151T 0.97 0.91 0.98 1. 0.97 0.99 0.9773 0.9259 0.9884 0.9999 0.9849 0.9754 0.9758 0.9946 0.98 0.94 1. 0.96 0.97 rs2402073 . . . . . . . . . . . . . 0.606 0.057 T 0.0 0.026 B 0.0 0.013 B 0.014 0.014 N 1 0.090 P -0.205 0.041 N 3.4 0.142 T -0.2 0.102 N 0.013 0.095 -0.991 0.322 T 0.000 0.000 T . . . -1.011 0.032 0.015 0.796 0.124 0.013 0.045 N c -1.488 -1.450 0.003 0.100 0.693 0.558 0 -0.357 0.119 0.053 0.140 -1.536 0.010 0.000 0.063 0.000 0.016 0.713 0.009 . . . 0.9783 0.9238 0.9857 0.9758 0.9999 0.9841 0.9754 0.9778 0.9946 0.9646 0.9277 0.9773 0.9669 1 0.9825 0.9768 0.9725 hom 3311.34 121 14 92268615 . T G 3311.34 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8625;MQ=58.80;MQ0=0;QD=27.37;VQSLOD=6.9331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3311,268,0 14 92347680 92347680 A G exonic FBLN5 synonymous SNV FBLN5:NM_006329:exon9:c.T945C:p.I315I 0.78 0.77 0.84 0.83 0.75 0.75 0.7609 0.7858 0.8834 0.8419 0.7480 0.7323 0.7467 0.7382 0.76 0.79 0.74 0.71 0.78 rs2430347 COSM5428504 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Macular_degeneration|Cutis_Laxa\x2c_Dominant/Recessive RCV000150685.4|RCV000336959.1|RCV000403489.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|HP:0000608:C0024437|CN239277 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7635 0.7806 0.8771 0.6370 0.8361 0.7505 0.7366 0.7494 0.7399 0.7706 0.7872 0.8445 0.6722 0.8428 0.7457 0.7570 0.7688 hom 2506.34 82 14 92347680 . A G 2506.34 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9120;MQ=58.95;MQ0=0;QD=30.57;VQSLOD=9.3780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2539,220,0 14 92441066 92441066 C T exonic TRIP11 nonsynonymous SNV TRIP11:NM_001321851:exon19:c.G5476A:p.G1826S,TRIP11:NM_004239:exon19:c.G5479A:p.G1827S 0.27 0.21 0.16 0.31 0.31 0.35 0.3155 0.2228 0.1821 0.3390 0.3379 0.3394 0.3217 0.3490 0.29 0.22 0.33 0.29 0.25 rs1051340 COSM3754163 1(large_intestine) Benign|Benign not_specified|Achondrogenesis RCV000175447.3|RCV000303439.1 . . . . . . . . 0.045 0.408 D 0.973 0.556 D 0.322 0.411 B 0.000 0.843 D 0.001 0.472 P 1.805 0.477 L 3.52 0.049 T -2.62 0.563 D 0.075 0.359 -0.973 0.366 T 0.000 0.000 T . . . 3.315 0.457 22.9 0.996 0.762 0.954 0.642 D c -0.213 -0.161 0.996 0.346 0.732 0.924 0 3.9 0.441 2.310 0.431 -0.320 0.077 0.969 0.340 0.123 0.197 12.367 0.544 . ENSG00000259634.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000183648.5|ENSG00000261372.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1|ENSG00000259634.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000259634.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000100815.8|ENSG00000261372.1|ENSG00000259634.1|ENSG00000100815.8|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1|ENSG00000261372.1|ENSG00000100815.8|ENSG00000066427.17|ENSG00000100815.8|ENSG00000066427.17|ENSG00000261372.1|ENSG00000259634.1|ENSG00000100815.8|ENSG00000066427.17|ENSG00000261372.1|ENSG00000183648.5|ENSG00000261372.1|ENSG00000261372.1|ENSG00000066427.17|ENSG00000259634.1|ENSG00000261372.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.3071 0.2232 0.1808 0.3919 0.3316 0.3314 0.3297 0.3066 0.3465 0.2923 0.2330 0.2012 0.3940 0.3263 0.3179 0.3196 0.3033 het 536.39 41 14 92441066 . C T 536.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.847;DP=41;Dels=0.00;FS=1.786;HRun=0;HaplotypeScore=1.8924;MQ=58.96;MQ0=0;MQRankSum=-0.352;QD=13.08;ReadPosRankSum=-1.526;VQSLOD=5.8646;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:566,0,510 14 92548785 92548785 C T exonic ATXN3 nonsynonymous SNV ATXN3:NM_001164779:exon4:c.G271A:p.V91M,ATXN3:NM_001164780:exon5:c.G97A:p.V33M,ATXN3:NM_001127697:exon6:c.G481A:p.V161M,ATXN3:NM_001164781:exon6:c.G424A:p.V142M,ATXN3:NM_001127696:exon7:c.G589A:p.V197M,ATXN3:NM_030660:exon7:c.G469A:p.V157M,ATXN3:NM_004993:exon8:c.G634A:p.V212M 0.33 0.38 0.15 0.44 0.22 0.37 0.2714 0.3384 0.1562 0.4413 0.2275 0.2448 0.2721 0.3462 0.27 0.33 0.24 0.3 0.27 rs1048755 COSM3754168;COSM3754169;COSM3754167 2(pancreas);1(large_intestine) Likely benign not_specified RCV000116481.2 MedGen CN169374 . . . . . . 0.225 0.230 T 0.028 0.253 B 0.043 0.281 B 0.088 0.205 N 0.999 0.240 P 1.04 0.263 L 2.16 0.338 T -0.73 0.303 N 0.04 0.474 -0.913 0.465 T 0.000 0.000 T . . . 2.762 0.393 21.2 0.987 0.446 0.916 0.536 D c -0.229 -0.071 0.000 0.070 0.707 0.730 0 3.26 0.363 2.236 0.425 0.892 0.403 0.979 0.349 0.987 0.523 11.607 0.501 . ENSG00000259634.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1|ENSG00000100815.8|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1|ENSG00000261372.1|ENSG00000259634.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000259634.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1|ENSG00000066427.17|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1|ENSG00000259634.1|ENSG00000100815.8|ENSG00000066427.17|ENSG00000261372.1|ENSG00000261372.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000259634.1|ENSG00000100815.8|ENSG00000066427.17|ENSG00000259634.1|ENSG00000100815.8|ENSG00000066427.17|ENSG00000261372.1|ENSG00000259634.1|ENSG00000100815.8|ENSG00000066427.17|ENSG00000261372.1|ENSG00000066427.17|ENSG00000261372.1|ENSG00000259634.1|ENSG00000261372.1|ENSG00000261372.1|ENSG00000261372.1|ENSG00000066427.17|ENSG00000259634.1|ENSG00000261372.1|ENSG00000100815.8|ENSG00000066427.17|ENSG00000261372.1|ENSG00000066427.17|ENSG00000261372.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood 0.2665 0.3450 0.1540 0.3210 0.4419 0.2283 0.2433 0.2526 0.3487 0.2734 0.3525 0.1627 0.3477 0.4349 0.2117 0.2318 0.2327 het 1557.40 138 14 92548785 . C T 1557.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.798;DP=138;Dels=0.00;FS=4.111;HRun=1;HaplotypeScore=2.8264;MQ=58.24;MQ0=0;MQRankSum=1.201;QD=11.29;ReadPosRankSum=-0.306;VQSLOD=5.3503;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,62:138:99:1587,0,1966 14 92549586 92549586 G A exonic ATXN3 synonymous SNV ATXN3:NM_001164779:exon3:c.C129T:p.V43V,ATXN3:NM_001127697:exon5:c.C339T:p.V113V,ATXN3:NM_001164781:exon5:c.C282T:p.V94V,ATXN3:NM_001127696:exon6:c.C447T:p.V149V,ATXN3:NM_030660:exon6:c.C327T:p.V109V,ATXN3:NM_004993:exon7:c.C492T:p.V164V 0.57 0.74 0.39 0.56 0.45 0.59 0.5028 0.6778 0.3659 0.5392 0.4338 0.4850 0.5288 0.5671 0.54 0.67 0.48 0.62 0.4 rs16999141 COSM147835 1(stomach) Likely benign not_specified RCV000116480.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4937 0.6864 0.3729 0.5405 0.5348 0.4337 0.4841 0.4952 0.5704 0.5337 0.6887 0.4108 0.5933 0.5193 0.4246 0.4799 0.4665 hom 2419.06 73 14 92549586 . G A 2419.06 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=59.68;MQ0=0;QD=33.14;VQSLOD=9.1191;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2452,193,0 14 92792255 92792255 G A exonic SLC24A4 synonymous SNV SLC24A4:NM_153646:exon2:c.G174A:p.T58T,SLC24A4:NM_153647:exon3:c.G174A:p.T58T 0.94 0.77 0.98 1. 1. 1. 0.9828 0.8095 0.9914 1 1 0.9993 0.9842 0.9996 0.93 0.81 1. 0.88 0.98 rs941646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9860 0.8034 0.9897 0.9984 1 1 0.9992 0.9910 0.9996 0.9445 0.8078 0.9821 1 1 1 0.9989 0.9878 hom 2158.76 72 14 92792255 . G A 2158.76 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=29.98;VQSLOD=8.9182;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2192,169,0 14 92909073 92909073 T C exonic SLC24A4 synonymous SNV SLC24A4:NM_153646:exon6:c.T495C:p.H165H,SLC24A4:NM_153648:exon6:c.T303C:p.H101H,SLC24A4:NM_153647:exon7:c.T495C:p.H165H 0.86 0.87 0.82 0.99 0.74 0.85 0.7895 0.8608 0.8185 0.9821 0.7452 0.7386 0.8128 0.8459 0.78 0.86 0.73 0.84 0.8 rs941650 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7903 0.8605 0.8148 0.7895 0.9834 0.7505 0.7358 0.7916 0.8469 0.7819 0.8632 0.8010 0.8079 0.9852 0.7523 0.7201 0.7469 hom 2865.84 93 14 92909073 . T C 2865.84 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.74;MQ0=0;QD=30.82;VQSLOD=8.9770;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2899,232,0 14 92920371 92920371 C T exonic SLC24A4 synonymous SNV SLC24A4:NM_153646:exon11:c.C1008T:p.P336P,SLC24A4:NM_153648:exon11:c.C816T:p.P272P,SLC24A4:NM_153647:exon12:c.C951T:p.P317P 0.56 0.71 0.41 0.6 0.5 0.49 0.5039 0.6857 0.3427 0.5448 0.4811 0.5025 0.4835 0.4959 0.56 0.67 0.51 0.65 0.39 rs7144273 COSM1371609;COSM5828181 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4928 0.6795 0.3527 0.4305 0.5430 0.4831 0.5082 0.4748 0.4976 0.5528 0.6848 0.3735 0.4033 0.5262 0.5040 0.5044 0.5348 het 894.76 75 14 92920371 . C T 894.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.038;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3715;MQ=60.00;MQ0=0;MQRankSum=-0.043;QD=11.93;ReadPosRankSum=-0.509;VQSLOD=5.9985;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,35:75:99:925,0,1240 14 93118038 93118038 A G exonic RIN3 nonsynonymous SNV RIN3:NM_001319987:exon5:c.A419G:p.H140R,RIN3:NM_024832:exon6:c.A644G:p.H215R 0.44 0.46 0.45 0.27 0.58 0.45 0.4877 0.4418 0.3423 0.2729 0.4723 0.5560 0.5077 0.4598 0.53 0.46 0.57 0.33 0.59 rs3829947 COSM3999415 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 0.222 0.188 T 0.0 0.026 B 0.001 0.040 B 0.120 0.027 N 1 0.090 P 0.77 0.194 N 1.98 0.219 T -0.75 0.210 N 0.016 0.003 -0.936 0.432 T 0.000 0.000 T . . . 0.136 0.107 3.995 0.762 0.110 0.084 0.141 N c -1.320 -1.310 1.000 0.747 0.732 0.924 0 -5.52 0.023 -0.308 0.081 -0.297 0.082 0.000 0.063 0.003 0.074 2.511 0.043 . . . 0.4833 0.4403 0.3536 0.5587 0.2741 0.4629 0.5615 0.5199 0.4638 0.4961 0.4434 0.4175 0.5464 0.2739 0.4590 0.5635 0.4856 hom 2550.39 80 14 93118038 . A G 2550.39 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.71;MQ0=0;QD=31.88;VQSLOD=8.8686;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2583,226,0 14 93154538 93154540 GGC - exonic RIN3 nonframeshift deletion RIN3:NM_001319987:exon9:c.2674_2676del:p.G897del,RIN3:NM_024832:exon10:c.2899_2901del:p.G972del . . . . . . 0.6674 0.7774 0.5441 0.7923 0.7095 0.6570 0.6356 0.6612 0.71 0.78 0.67 . . rs71698059 COSM958885 1(stomach);1(thyroid);1(upper_aerodigestive_tract);19(large_intestine);2(central_nervous_system);2(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6512 0.7715 0.5430 0.6095 0.7905 0.6898 0.6465 0.6309 0.6485 0.6922 0.7674 0.5751 0.5986 0.7912 0.6898 0.6475 0.6805 het 440.87 39 14 93154537 . TGGC T 440.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.392;DP=39;FS=3.771;HRun=0;HaplotypeScore=150.5158;MQ=58.37;MQ0=0;MQRankSum=1.820;QD=11.30;ReadPosRankSum=2.354;set=variant2 GT:AD:DP:GQ:PL 0/1:26,13:39:99:480,0,703 14 93170993 93170993 C T exonic LGMN synonymous SNV LGMN:NM_005606:exon13:c.G1251A:p.P417P,LGMN:NM_001008530:exon14:c.G1251A:p.P417P 0.28 0.27 0.55 0.075 0.42 0.18 0.3563 0.2860 0.5892 0.0650 0.3908 0.4037 0.3485 0.1846 0.37 0.29 0.41 0.22 0.37 rs9791 COSM3754173 1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3665 0.2856 0.5711 0.4274 0.0633 0.3913 0.4024 0.3846 0.1827 0.3578 0.2827 0.5120 0.4503 0.0660 0.3869 0.4141 0.3834 het 2840.66 250 14 93170993 . C T 2840.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.782;DP=250;DS;Dels=0.00;FS=1.561;HRun=0;HaplotypeScore=2.9325;MQ=59.27;MQ0=0;MQRankSum=1.188;QD=11.36;ReadPosRankSum=0.074;VQSLOD=6.5863;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,107:250:99:2871,0,3923 14 93178191 93178191 A G exonic LGMN synonymous SNV LGMN:NM_005606:exon9:c.T720C:p.D240D,LGMN:NM_001008530:exon10:c.T720C:p.D240D 1. 0.99 1. 1. 1. 1. 0.9991 0.9898 0.9996 1 0.9998 1.0000 1 1 1. 0.99 1. 0.99 1. rs1951708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 0.9895 0.9997 1 1 1 1.0000 0.9998 1 0.9972 0.9903 0.9988 1 1 1 1 0.9980 hom 2694.33 79 14 93178191 . A G 2694.33 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5767;MQ=60.00;MQ0=0;QD=34.11;VQSLOD=9.4846;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2727,217,0 14 93276654 93276654 T C exonic GOLGA5 nonsynonymous SNV GOLGA5:NM_005113:exon5:c.T1048C:p.F350L 0.86 0.97 0.86 0.83 0.75 0.85 0.7999 0.9380 0.9015 0.8494 0.8339 0.7351 0.7958 0.8638 0.8 0.93 0.73 0.84 0.75 rs1040835 COSM3754177 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.436 N 1.000 0.090 P -1.975 0.002 N 2.73 0.119 T 2.51 0.002 N 0.029 0.055 -0.989 0.329 T 0.000 0.000 T . . . 1.303 0.221 12.28 0.704 0.090 0.327 0.244 N c -0.960 -0.650 0.943 0.275 0.707 0.730 0 4.75 0.598 1.685 0.370 0.040 0.155 0.864 0.304 0.990 0.544 7.426 0.261 . . . 0.8018 0.9413 0.8898 0.7552 0.8513 0.8330 0.7307 0.7975 0.8630 0.8175 0.9357 0.8484 0.7252 0.8802 0.8143 0.7439 0.7974 het 850.45 69 14 93276654 . T C 850.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.721;DP=69;Dels=0.00;FS=0.945;HRun=0;HaplotypeScore=2.9782;MQ=58.78;MQ0=0;MQRankSum=0.082;QD=12.33;ReadPosRankSum=0.069;VQSLOD=5.7214;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,30:69:99:880,0,1016 14 93399101 93399101 C T exonic CHGA nonsynonymous SNV CHGA:NM_001301690:exon6:c.C742T:p.R248W,CHGA:NM_001275:exon7:c.C1195T:p.R399W 0.12 0.012 0.21 0.2 0.16 0.099 0.1883 0.0413 0.3386 0.2403 0.2127 0.1864 0.1882 0.1304 0.1 0.034 0.14 0.087 0.09 rs729940 COSM4985721 6(soft_tissue) . . . . . . . . . . . 0.027 0.465 D 1.0 0.899 D 0.971 0.708 D 0.674 0.103 N 1 0.090 P 2.57 0.754 M 4.62 0.019 T -5.21 0.837 D 0.064 0.049 -0.926 0.447 T 0.000 0.000 T . . . 5.518 0.750 26.3 0.998 0.878 0.188 0.202 N c -0.110 -0.335 0.990 0.321 0.635 0.413 0 1.2 0.201 0.883 0.276 -0.037 0.125 0.007 0.175 0.620 0.292 6.236 0.198 . . . 0.1547 0.0309 0.2712 0.0835 0.2057 0.1423 0.1489 0.1458 0.1052 0.1191 0.0371 0.2476 0.0795 0.2007 0.1499 0.1422 0.1534 het 197.36 15 14 93399101 . C T 197.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.202;DP=15;Dels=0.00;FS=2.522;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.406;QD=13.16;ReadPosRankSum=0.201;VQSLOD=5.9767;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:227,0,123 14 93943998 93943998 G A exonic UNC79 synonymous SNV UNC79:NM_001346218:exon4:c.G543A:p.T181T,UNC79:NM_020818:exon4:c.G12A:p.T4T 0.37 0.27 0.24 0.7 0.29 0.36 0.3386 0.2764 0.2817 0.6467 0.3601 0.3131 0.3337 0.3515 0.3 0.28 0.31 0.33 0.35 rs61992606 COSM3999419;COSM3999420 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3371 0.2732 0.2808 0.3278 0.6512 0.3565 0.3097 0.3151 0.3465 0.3229 0.2632 0.2852 0.2914 0.6435 0.3566 0.3162 0.3525 het 2667.17 250 14 93943998 . G A 2667.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.106;DP=250;DS;Dels=0.00;FS=2.995;HRun=0;HaplotypeScore=1.8519;MQ=58.43;MQ0=0;MQRankSum=2.538;QD=10.67;ReadPosRankSum=0.780;VQSLOD=4.7742;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:2697,0,3393 14 94088266 94088266 G A exonic UNC79 nonsynonymous SNV UNC79:NM_020818:exon30:c.G4156A:p.E1386K,UNC79:NM_001346218:exon31:c.G4837A:p.E1613K 0.0014 . 0.0014 . 0.005 0.001 0.0036 0.0009 0.0013 0 0.0015 0.0044 0.0099 0.0058 0.0026 0.0009 0.0035 . 0.0082 rs78490074 COSM5154589 1(large_intestine) . . . . . . . . . . . 0.359 0.135 T 0.001 0.067 B 0.002 0.063 B 0.000 0.559 N 0.512 0.316 N 0.805 0.203 L 2.17 0.190 T -0.51 0.160 N 0.276 0.334 -1.038 0.178 T 0.024 0.104 T 0.007 0.190 T 0.776 0.168 9.315 0.978 0.355 0.976 0.756 D c -0.564 -0.400 0.964 0.287 0.554 0.283 0 4.16 0.480 2.878 0.480 -0.248 0.090 0.999 0.424 0.052 0.166 12.273 0.539 . . . 0.0035 0.0004 0.0020 0 0 0.0015 0.0046 0.0038 0.0068 0.0031 0.0007 0.0024 0 0 0.0011 0.0053 0.0051 het 2176.24 157 14 94088266 . G A 2176.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.554;DP=157;Dels=0.00;FS=5.878;HRun=1;HaplotypeScore=6.9601;MQ=59.32;MQ0=0;MQRankSum=0.151;QD=13.86;ReadPosRankSum=0.874;VQSLOD=3.9750;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,78:157:99:2206,0,2040 14 94088734 94088734 G A exonic UNC79 nonsynonymous SNV UNC79:NM_020818:exon30:c.G4624A:p.D1542N,UNC79:NM_001346218:exon31:c.G5305A:p.D1769N . . . . . . 8.273e-06 0 0 0 0 1.507e-05 0 0 . . . . . rs755931879 . . . . . . . . . . . . . 0.138 0.276 T 0.003 0.102 B 0.003 0.080 B 0.014 0.287 N 0.885 0.280 N 0.805 0.203 L 2.18 0.190 T -1.14 0.303 N 0.058 0.041 -1.056 0.129 T 0.027 0.116 T 0.004 0.099 T 0.410 0.133 6.700 0.896 0.184 0.947 0.618 D c -0.391 -0.218 0.364 0.198 0.516 0.203 0 5.06 0.677 4.675 0.611 0.905 0.419 1.000 0.715 0.137 0.201 9.266 0.366 . . . 1.221e-05 0 2.979e-05 0 0 0 1.797e-05 0 0 3.228e-05 0.0001 0 0 0 0 0 0 het 1712.63 177 14 94088734 . G A 1712.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.935;DP=177;Dels=0.00;FS=1.213;HRun=2;HaplotypeScore=9.8165;MQ=59.18;MQ0=0;MQRankSum=0.167;QD=9.68;ReadPosRankSum=0.566;VQSLOD=2.2986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,70:177:99:1743,0,2858 14 94187832 94187832 C T exonic PRIMA1 synonymous SNV PRIMA1:NM_178013:exon5:c.G420A:p.S140S 0.5 0.38 0.7 0.34 0.63 0.54 0.6032 0.4165 0.6678 0.3326 0.6397 0.6646 0.6225 0.5529 0.58 0.43 0.66 0.48 0.61 rs1887197 COSM3754189 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6075 0.4183 0.6661 0.7255 0.3284 0.6301 0.6579 0.6412 0.5517 0.5703 0.4361 0.6746 0.7119 0.3271 0.6309 0.6490 0.6112 het 1221.47 118 14 94187832 . C T 1221.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.782;DP=118;Dels=0.00;FS=5.781;HRun=0;HaplotypeScore=1.8410;MQ=58.26;MQ0=0;MQRankSum=1.070;QD=10.26;ReadPosRankSum=-0.505;VQSLOD=5.0405;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,51:118:99:1251,0,1655 14 94245649 94245649 A G exonic PRIMA1 synonymous SNV PRIMA1:NM_178013:exon3:c.T102C:p.H34H 0.59 0.63 0.62 0.32 0.79 0.57 0.6920 0.6409 0.6278 0.3055 0.7893 0.7680 0.7438 0.6240 0.73 0.64 0.77 0.64 0.78 rs4905087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6891 0.6225 0.6052 0.7672 0.2645 0.7884 0.7636 0.7194 0.6052 0.7024 0.6440 0.6639 0.7333 0.3130 0.7912 0.7564 0.7454 hom 1577.98 62 14 94245649 . A G 1577.98 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.118;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.25;MQ0=0;MQRankSum=1.341;QD=25.45;ReadPosRankSum=-1.732;VQSLOD=6.0053;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,61:62:97.60:1611,98,0 14 94245652 94245652 C T exonic PRIMA1 synonymous SNV PRIMA1:NM_178013:exon3:c.G99A:p.T33T 0.36 0.39 0.36 0.23 0.47 0.35 0.4102 0.4035 0.2856 0.2230 0.4780 0.4612 0.4582 0.3662 0.45 0.4 0.48 0.37 0.46 rs4900195 COSM1563038;COSM3754190 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3948 0.3830 0.2539 0.3904 0.1857 0.4821 0.4542 0.4147 0.3358 0.4342 0.4063 0.3675 0.3833 0.2174 0.4883 0.4648 0.4526 hom 1704.31 64 14 94245652 . C T 1704.31 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.28;MQ0=0;QD=26.63;VQSLOD=7.0863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:64:99:1737,135,0 14 94391699 94391699 G A exonic FAM181A nonsynonymous SNV FAM181A:NM_138344:exon2:c.G82A:p.A28T 0.5 0.43 0.4 0.64 0.54 0.48 0.5038 0.4604 0.3696 0.6197 0.5369 0.5235 0.5166 0.4709 0.51 0.46 0.53 0.42 0.51 rs10141024 COSM1685477 1(pancreas);1(skin);1(thyroid) . . . . . . . . . . . 0.224 0.187 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.55 0.145 N 1.34 0.348 T -0.36 0.131 N 0.032 0.012 -0.980 0.349 T 0.000 0.000 T . . . 0.327 0.126 5.955 0.957 0.270 0.024 0.067 N c -1.196 -1.259 0.001 0.077 0.497 0.185 0 -0.574 0.111 0.419 0.208 -0.106 0.116 0.001 0.137 0.007 0.100 4.632 0.118 . ENSG00000258584.1|ENSG00000140067.6|ENSG00000258584.1 Testis|Thyroid|Thyroid 0.5031 0.4525 0.3758 0.5543 0.6187 0.5353 0.5277 0.5312 0.4694 0.5077 0.4567 0.4320 0.5364 0.6116 0.5352 0.5235 0.5061 hom 1850.05 61 14 94391699 . G A 1850.05 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=30.33;VQSLOD=8.9630;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1883,153,0 14 94405871 94405871 G C exonic ASB2 synonymous SNV ASB2:NM_016150:exon6:c.C1056G:p.A352A,ASB2:NM_001202429:exon8:c.C1200G:p.A400A 0.8 0.8 0.64 0.9 0.84 0.8 0.8052 0.8069 0.6070 0.9048 0.7645 0.8345 0.8373 0.7927 0.85 0.83 0.86 . 0.6 rs10873442 COSM3749286 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7973 0.7978 0.6161 0.9170 0.9082 0.7738 0.8341 0.8133 0.7865 0.8192 0.7972 0.6938 0.9272 0.9191 0.7747 0.8377 0.7986 hom 617.19 24 14 94405871 . G C 617.19 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=25.72;VQSLOD=6.6870;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:60.14:650,60,0 14 94417421 94417421 G A exonic ASB2 synonymous SNV ASB2:NM_016150:exon4:c.C660T:p.N220N,ASB2:NM_001202429:exon6:c.C804T:p.N268N 0.56 0.32 0.48 0.78 0.65 0.59 0.6053 0.3759 0.5127 0.7946 0.5859 0.6389 0.6313 0.5863 0.56 0.39 0.65 0.56 0.57 rs7147919 COSM3999421 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6075 0.3682 0.5073 0.6525 0.7915 0.5971 0.6457 0.6083 0.5870 0.5651 0.3685 0.5538 0.7020 0.7769 0.5959 0.6442 0.6115 hom 8026.59 230 14 94417421 . G A 8026.59 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9121;MQ=59.64;MQ0=0;QD=34.90;VQSLOD=8.9823;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:8026,665,0 14 94417541 94417541 A G exonic ASB2 synonymous SNV ASB2:NM_016150:exon4:c.T540C:p.N180N,ASB2:NM_001202429:exon6:c.T684C:p.N228N 0.81 0.79 0.65 0.9 0.85 0.83 0.8193 0.8015 0.6233 0.9076 0.7755 0.8482 0.8337 0.8212 0.84 0.8 0.86 0.85 0.82 rs4277287 COSM3999422 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8119 0.7948 0.6262 0.9333 0.9086 0.7815 0.8483 0.8235 0.8173 0.8267 0.7952 0.7041 0.9338 0.9191 0.7837 0.8504 0.8167 hom 3822.63 123 14 94417541 . A G 3822.63 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=31.08;VQSLOD=9.1406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3822,319,0 14 94417586 94417586 G A exonic ASB2 synonymous SNV ASB2:NM_016150:exon4:c.C495T:p.C165C,ASB2:NM_001202429:exon6:c.C639T:p.C213C 0.58 0.41 0.49 0.78 0.65 0.59 0.6156 0.4596 0.5165 0.7951 0.5872 0.6409 0.6419 0.5956 0.59 0.46 0.65 0.6 0.55 rs4483793 COSM3754191 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6135 0.4480 0.5116 0.6617 0.7915 0.5936 0.6456 0.6143 0.5874 0.5887 0.4512 0.5613 0.7086 0.7756 0.5960 0.6442 0.6166 hom 3140.26 103 14 94417586 . G A 3140.26 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.82;MQ0=0;QD=30.49;VQSLOD=8.5218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3173,262,0 14 94582130 94582130 - GGCCATGGC exonic;splicing IFI27;IFI27 NM_001288956:exon4:c.122-1->GGCCATGGC;NM_001288952:exon5:c.122-1->GGCCATGGC;NM_001288959:exon3:UTR5;NM_001130080:exon4:c.122-1->GGCCATGGC nonframeshift insertion IFI27:NM_001288957:exon4:c.125_126insGGCCATGGC:p.A43_V44insMAA,IFI27:NM_001288958:exon4:c.125_126insGGCCATGGC:p.A43_V44insMAA,IFI27:NM_001288995:exon4:c.125_126insGGCCATGGC:p.A43_V44insMAA,IFI27:NM_005532:exon4:c.125_126insGGCCATGGC:p.A43_V44insMAA,IFI27:NM_001288954:exon5:c.125_126insGGCCATGGC:p.A43_V44insMAA 0.66 0.83 0.56 0.55 0.63 0.64 0.6009 0.7702 0.5263 0.5668 0.5018 0.5914 0.6218 0.6460 0.65 0.75 0.6 . . rs3833507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6014 0.7828 0.5505 0.7014 0.5847 0.4894 0.5941 0.6224 0.6492 0.6512 0.7840 0.5855 0.7367 0.5896 0.5232 0.6150 0.6127 hom 3278.12 30 14 94582130 . T TGGCCATGGC 3278.12 Mask AC=2;AF=1.00;AN=2;DP=30;FS=0.000;HRun=0;HaplotypeScore=186.3291;MQ=40.47;MQ0=0;QD=109.27;set=variant2 GT:AD:DP:GQ:PL 1/1:10,16:30:75.26:3278,75,0 14 94642417 94642417 A G exonic PPP4R4 synonymous SNV PPP4R4:NM_001348145:exon2:c.A144G:p.T48T,PPP4R4:NM_020958:exon2:c.A144G:p.T48T,PPP4R4:NM_058237:exon2:c.A144G:p.T48T 0.027 0.0083 0.039 . 0.089 0.0061 0.0549 0.0150 0.0315 0.0001 0.0596 0.0807 0.0595 0.0189 0.063 0.018 0.087 0.022 0.049 rs34520961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0555 0.0116 0.0335 0.0864 5.798e-05 0.0570 0.0829 0.0631 0.0205 0.0576 0.0143 0.0467 0.0298 0 0.0584 0.0887 0.0774 het 1734.46 165 14 94642417 . A G 1734.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.712;DP=165;Dels=0.00;FS=0.577;HRun=1;HaplotypeScore=1.9966;MQ=58.67;MQ0=0;MQRankSum=-0.696;QD=10.51;ReadPosRankSum=-0.257;VQSLOD=5.8150;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,74:165:99:1764,0,2316 14 94756794 94756794 T C exonic SERPINA10 nonsynonymous SNV SERPINA10:NM_001100607:exon2:c.A137G:p.K46R,SERPINA10:NM_016186:exon2:c.A137G:p.K46R 0.63 0.9 0.49 0.66 0.36 0.61 0.4931 0.8243 0.4700 0.6521 0.4472 0.3977 0.5258 0.6162 0.53 0.81 0.39 0.65 0.36 rs941590 COSM4148318 1(pancreas);1(thyroid) . . . . . . . . . . . 0.82 0.039 T 0.0 0.026 B 0.0 0.013 B 0.054 0.021 N 1 0.090 P -0.695 0.019 N -1.94 0.853 D 0.0 0.070 N 0.018 0.003 -0.948 0.414 T 0.000 0.000 T . . . -1.142 0.027 0.008 0.739 0.101 0.031 0.079 N c -1.565 -1.575 1.000 0.411 0.487 0.133 0 -0.49 0.114 -4.480 0.003 -2.156 0.004 0.000 0.063 0.010 0.111 1.476 0.023 . ENSG00000119698.7|ENSG00000119698.7|ENSG00000119698.7 Lung|Nerve_Tibial|Thyroid 0.4885 0.8321 0.4674 0.5526 0.6508 0.4343 0.3919 0.4822 0.6137 0.5391 0.8315 0.4737 0.5629 0.6665 0.4310 0.3894 0.4490 het 598.49 55 14 94756794 . T C 598.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.984;DP=55;Dels=0.00;FS=6.032;HRun=2;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.576;QD=10.88;ReadPosRankSum=1.263;VQSLOD=5.2832;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,22:55:99:628,0,953 14 94772504 94772504 G A exonic SERPINA6 synonymous SNV SERPINA6:NM_001756:exon4:c.C936T:p.L312L 0.16 0.17 0.14 0.059 0.3 0.14 0.2231 0.1831 0.1309 0.0622 0.2725 0.2787 0.2115 0.1532 0.24 0.18 0.27 0.14 0.26 rs1042394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2187 0.1824 0.1431 0.1993 0.0603 0.2848 0.2778 0.2277 0.1504 0.2363 0.1850 0.1539 0.1987 0.0544 0.2824 0.2800 0.2433 hom 3678.55 113 14 94772504 . G A 3678.55 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;QD=32.55;VQSLOD=9.5068;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3678,286,0 14 94776219 94776219 C T exonic SERPINA6 synonymous SNV SERPINA6:NM_001756:exon3:c.G738A:p.S246S 0.18 0.23 0.15 0.059 0.3 0.14 0.2279 0.2343 0.1327 0.0618 0.2729 0.2789 0.2130 0.1546 0.26 0.23 0.27 0.17 0.26 rs2228542 COSM1179760;COSM3754192 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2226 0.2351 0.1455 0.1990 0.0600 0.2851 0.2781 0.2304 0.1517 0.2494 0.2303 0.1575 0.1987 0.0543 0.2825 0.2803 0.2459 hom 5690.24 169 14 94776219 . C T 5690.24 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.92;MQ0=0;QD=33.67;VQSLOD=8.6019;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5690,445,0 14 94780608 94780608 G A exonic SERPINA6 synonymous SNV SERPINA6:NM_001756:exon2:c.C378T:p.T126T 0.14 0.1 0.13 0.08 0.24 0.18 0.1818 0.1257 0.1039 0.0880 0.1963 0.2197 0.1575 0.1631 0.18 0.13 0.21 0.087 0.22 rs3748320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1780 0.1265 0.1139 0.1632 0.0856 0.2002 0.2199 0.1790 0.1621 0.1839 0.1279 0.1289 0.1689 0.0808 0.1996 0.2267 0.1945 hom 2985.46 94 14 94780608 . G A 2985.46 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=31.76;VQSLOD=9.3701;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3018,235,0 14 94929541 94929541 G A exonic SERPINA9 synonymous SNV SERPINA9:NM_001284275:exon5:c.C1089T:p.G363G,SERPINA9:NM_175739:exon5:c.C1197T:p.G399G,SERPINA9:NM_001042518:exon6:c.C897T:p.G299G,SERPINA9:NM_001284276:exon6:c.C750T:p.G250G 0.68 0.38 0.75 0.65 0.85 0.88 0.7771 0.4359 0.6804 0.6219 0.8630 0.8353 0.78 0.8589 0.72 0.48 0.83 0.62 0.81 rs2224418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7768 0.4314 0.6928 0.7585 0.6251 0.8531 0.8358 0.7925 0.8586 0.7036 0.4510 0.6866 0.7417 0.6139 0.8583 0.8180 0.7953 het 2613.14 185 14 94929541 . G A 2613.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.768;DP=185;Dels=0.00;FS=9.939;HRun=0;HaplotypeScore=3.5961;MQ=59.55;MQ0=0;MQRankSum=-1.362;QD=14.13;ReadPosRankSum=-1.062;VQSLOD=4.0256;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,100:185:99:2643,0,2175 14 94931105 94931105 A G exonic SERPINA9 nonsynonymous SNV SERPINA9:NM_001284275:exon4:c.T935C:p.V312A,SERPINA9:NM_175739:exon4:c.T1043C:p.V348A,SERPINA9:NM_001042518:exon5:c.T743C:p.V248A,SERPINA9:NM_001284276:exon5:c.T596C:p.V199A 0.68 0.38 0.75 0.65 0.85 0.88 0.7773 0.4376 0.6807 0.6217 0.8626 0.8354 0.7817 0.8588 0.72 0.46 0.83 0.62 0.82 rs11628722 . . . . . . . . . . . . . 1.0 0.047 T 0.0 0.067 B 0.001 0.145 B 0.009 0.307 N 1 0.090 P -0.73 0.018 N -1.74 0.834 D -0.29 0.187 N 0.025 0.009 -0.961 0.390 T 0.000 0.000 T . . . -1.968 0.008 0.001 0.482 0.039 0.005 0.024 N c -1.754 -1.692 0.416 0.202 0.487 0.133 0 2.06 0.258 0.900 0.279 -0.258 0.088 0.001 0.137 0.036 0.153 5.200 0.145 Serpin domain ENSG00000186910.3 Colon_Transverse 0.7771 0.4338 0.6932 0.7586 0.6251 0.8530 0.8359 0.7931 0.8588 0.7040 0.4525 0.6890 0.7417 0.6109 0.8583 0.8181 0.7955 het 1245.03 96 14 94931105 . A G 1245.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.342;DP=96;Dels=0.00;FS=8.366;HRun=1;HaplotypeScore=0.6651;MQ=59.61;MQ0=0;MQRankSum=1.127;QD=12.97;ReadPosRankSum=2.579;VQSLOD=3.8573;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,53:96:99:1275,0,1110 14 94933709 94933709 C T exonic SERPINA9 synonymous SNV SERPINA9:NM_001284275:exon3:c.G585A:p.E195E,SERPINA9:NM_175739:exon3:c.G693A:p.E231E,SERPINA9:NM_001042518:exon4:c.G393A:p.E131E,SERPINA9:NM_001284276:exon4:c.G246A:p.E82E 0.35 0.21 0.36 0.18 0.54 0.49 0.4620 0.2523 0.3244 0.1817 0.5362 0.5336 0.4662 0.5120 0.44 0.26 0.52 0.36 0.51 rs6575433 COSM4148324;COSM4148326;COSM4148325 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4552 0.2509 0.3320 0.4575 0.1830 0.5343 0.5345 0.4788 0.4966 0.4243 0.2562 0.3604 0.4470 0.1801 0.5183 0.5248 0.4980 het 1206.16 105 14 94933709 . C T 1206.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.017;DP=105;Dels=0.00;FS=3.966;HRun=2;HaplotypeScore=1.9075;MQ=59.64;MQ0=0;MQRankSum=1.341;QD=11.49;ReadPosRankSum=-0.510;VQSLOD=6.1845;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,44:105:99:1236,0,1631 14 94935901 94935901 G C exonic SERPINA9 nonsynonymous SNV SERPINA9:NM_001284275:exon2:c.C223G:p.Q75E,SERPINA9:NM_175739:exon2:c.C331G:p.Q111E 0.18 0.011 0.18 0.35 0.24 0.17 0.2073 0.0361 0.2237 0.3287 0.2077 0.2225 0.1833 0.1739 0.15 0.043 0.2 0.16 0.2 rs12879019 . . . . . . . . . . . . . 0.831 0.082 T 0.907 0.481 P 0.664 0.534 P 0.001 0.392 U 0.146 0.810 P 1.87 0.498 L -2.37 0.882 D -1.1 0.441 N 0.235 0.418 -0.866 0.509 T 0.000 0.000 T . . . 1.929 0.293 15.77 0.927 0.215 0.953 0.641 D c 0.171 0.188 1.000 0.747 0.516 0.203 0 4.12 0.473 3.908 0.558 1.030 0.653 1.000 0.715 0.996 0.625 13.386 0.601 Serpin domain . . 0.2081 0.0384 0.2216 0.2020 0.3229 0.2074 0.2207 0.1993 0.1718 0.1801 0.0417 0.2136 0.2318 0.3381 0.2066 0.2315 0.2290 het 1343.38 114 14 94935901 . G C 1343.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.930;DP=114;Dels=0.00;FS=4.795;HRun=0;HaplotypeScore=2.4866;MQ=59.39;MQ0=0;MQRankSum=0.361;QD=11.78;ReadPosRankSum=-0.219;VQSLOD=5.7316;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,52:114:99:1373,0,1781 14 94936110 94936110 G A exonic SERPINA9 nonsynonymous SNV SERPINA9:NM_001042518:exon2:c.C122T:p.P41L,SERPINA9:NM_175739:exon2:c.C122T:p.P41L 0.059 0.022 0.086 0.019 0.097 0.089 0.0947 0.0361 0.0766 0.0296 0.0520 0.1165 0.0972 0.1172 0.092 0.036 0.12 0.054 0.12 rs45438398 COSM3754199;COSM3754198 1(large_intestine) . . . . . . . . . . . 1.0 0.305 T 0.024 0.197 B 0.003 0.139 B 0.025 0.016 U 1 0.090 P 0 0.065 N -2.33 0.879 D -1.85 0.635 N 0.03 0.021 -0.936 0.432 T 0.008 0.028 T . . . 2.404 0.350 18.85 0.871 0.164 0.024 0.066 N c -1.193 -1.219 0.921 0.266 0.487 0.133 0 -1.2 0.090 0.677 0.248 0.100 0.199 0.000 0.063 0.000 0.016 0.626 0.007 Serpin domain ENSG00000186910.3 Skin_Not_Sun_Exposed_Suprapubic 0.0961 0.0324 0.0821 0.1182 0.0292 0.0571 0.1221 0.1222 0.1229 0.0783 0.0356 0.0897 0.0927 0.0272 0.0498 0.1132 0.0969 het 2047.02 144 14 94936110 . G A 2047.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.301;DP=144;Dels=0.00;FS=5.063;HRun=0;HaplotypeScore=3.8985;MQ=59.18;MQ0=0;MQRankSum=-1.874;QD=14.22;ReadPosRankSum=-0.405;VQSLOD=3.9733;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,80:144:99:2077,0,1609 14 95029852 95029852 G T exonic SERPINA4 synonymous SNV SERPINA4:NM_001289032:exon2:c.G144T:p.L48L,SERPINA4:NM_001289033:exon2:c.G33T:p.L11L,SERPINA4:NM_006215:exon2:c.G33T:p.L11L 0.23 0.3 0.23 0.14 0.22 0.24 0.2259 0.3010 0.2225 0.1368 0.2147 0.2252 0.21 0.2362 0.26 0.3 0.23 0.21 0.19 rs5508 COSM4415638 2(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2230 0.3057 0.2227 0.1268 0.1384 0.2096 0.2337 0.2081 0.2340 0.2514 0.3056 0.2291 0.1722 0.1401 0.2073 0.2455 0.2454 het 2467.25 183 14 95029852 . G T 2467.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.884;DP=183;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9987;MQ=59.29;MQ0=0;MQRankSum=0.557;QD=13.48;ReadPosRankSum=0.696;VQSLOD=6.7876;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:93,90:183:99:2497,0,2539 14 95053890 95053890 G A exonic SERPINA5 nonsynonymous SNV SERPINA5:NM_000624:exon3:c.G191A:p.S64N 0.62 0.95 0.45 0.43 0.64 0.48 0.6152 0.9032 0.3474 0.4345 0.6500 0.6567 0.5980 0.5354 0.74 0.89 0.66 0.38 0.6 rs6115 COSM4148328 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -3.775 0.000 N -0.6 0.717 T 4.77 0.000 N 0.114 0.244 -0.943 0.422 T 0.000 0.000 T . . . -0.572 0.051 0.146 0.608 0.064 0.082 0.140 N c -1.219 -0.959 1.000 0.401 0.497 0.185 0 4.11 0.472 6.932 0.755 0.244 0.267 1.000 0.715 0.080 0.181 9.079 0.355 Serpin domain . . 0.6016 0.9066 0.3685 0.5919 0.4363 0.6492 0.6626 0.6165 0.5432 0.7033 0.8985 0.4532 0.5267 0.4268 0.6395 0.6584 0.6043 het 883.21 51 14 95053890 . G A 883.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.642;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7653;MQ=59.18;MQ0=0;MQRankSum=2.191;QD=17.32;ReadPosRankSum=0.553;VQSLOD=5.0422;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,33:51:99:913,0,470 14 95054176 95054176 T C exonic SERPINA5 synonymous SNV SERPINA5:NM_000624:exon3:c.T477C:p.P159P 0.62 0.95 0.45 0.41 0.64 0.48 0.6157 0.9049 0.3506 0.4243 0.6492 0.6577 0.5982 0.5366 0.74 0.9 0.66 0.7 0.61 rs6112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6015 0.9080 0.3695 0.5938 0.4224 0.6497 0.6631 0.6166 0.5441 0.7034 0.9002 0.4511 0.5302 0.4120 0.6397 0.6592 0.6039 het 1906.24 127 14 95054176 . T C 1906.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.611;DP=127;Dels=0.00;FS=4.493;HRun=3;HaplotypeScore=7.5412;MQ=59.49;MQ0=0;MQRankSum=1.172;QD=15.01;ReadPosRankSum=0.311;VQSLOD=4.5944;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,68:127:99:1936,0,1586 14 95081081 95081081 A G exonic SERPINA3 synonymous SNV SERPINA3:NM_001085:exon2:c.A303G:p.K101K 0.045 0.0068 0.065 0.004 0.11 0.06 0.0819 0.0218 0.0546 0.0027 0.0445 0.1104 0.0738 0.0807 0.082 0.025 0.11 0.011 0.11 rs17826465 COSM3754202;COSM3754203 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign not_specified RCV000454628.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0809 0.0199 0.0582 0.1010 0.0027 0.0439 0.1134 0.0988 0.0788 0.0651 0.0203 0.0719 0.0960 0.0068 0.0509 0.0993 0.0733 het 1118.23 96 14 95081081 . A G 1118.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.401;DP=96;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4274;MQ=59.04;MQ0=0;MQRankSum=0.673;QD=11.65;ReadPosRankSum=-0.427;VQSLOD=6.6921;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,40:96:99:1148,0,1616 14 95912388 95912388 G A exonic SYNE3 nonsynonymous SNV SYNE3:NM_152592:exon8:c.C1490T:p.T497M 0.059 0.042 0.06 0.002 0.089 0.11 0.0790 0.0541 0.0368 0.0005 0.1083 0.0891 0.1046 0.1111 0.076 0.057 0.085 0.076 0.09 rs61749972 COSM3754209;COSM3754207;COSM3754208 1(large_intestine) . . . . . . . . . . . 0.269 0.204 T 0.669 0.392 P 0.08 0.274 B 0.333 0.141 N 1 0.090 N 1.905 0.510 L 3.52 0.142 T -2.3 0.531 N 0.044 0.150 -0.986 0.335 T 0.001 0.004 T . . . 1.615 0.256 13.93 0.997 0.827 0.082 0.140 N c -0.299 -0.304 0.999 0.397 0.672 0.522 0 3.12 0.348 1.210 0.318 0.949 0.536 0.322 0.253 0.012 0.117 4.667 0.120 . . . 0.0805 0.0527 0.0397 0.1564 0.0005 0.1056 0.0869 0.0899 0.1162 0.0744 0.0505 0.0443 0.1556 0.0006 0.1011 0.0884 0.1 het 3097.09 227 14 95912388 . G A 3097.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.025;DP=227;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2321;MQ=58.97;MQ0=0;MQRankSum=1.148;QD=13.64;ReadPosRankSum=0.222;VQSLOD=5.2675;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,114:227:99:3127,0,2810 14 95921741 95921741 C T exonic SYNE3 synonymous SNV SYNE3:NM_152592:exon5:c.G1110A:p.E370E 0.46 0.21 0.65 0.55 0.5 0.49 0.5222 0.2610 0.7542 0.5779 0.5289 0.5135 0.5274 0.5208 0.43 0.27 0.51 0.45 0.38 rs4905324 COSM1477888;COSM1477887;COSM433558 1(liver);3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5248 0.2497 0.7283 0.5002 0.5881 0.5282 0.5074 0.5341 0.5014 0.4541 0.2524 0.6770 0.5199 0.6207 0.5169 0.5204 0.5257 het 708.68 52 14 95921741 . C T 708.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.974;DP=52;Dels=0.00;FS=1.181;HRun=1;HaplotypeScore=2.4527;MQ=58.83;MQ0=0;MQRankSum=-0.714;QD=13.63;ReadPosRankSum=-2.326;VQSLOD=5.2781;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:739,0,693 14 95923670 95923670 A C exonic SYNE3 synonymous SNV SYNE3:NM_152592:exon4:c.T633G:p.R211R 0.62 0.78 0.69 0.58 0.51 0.53 0.5720 0.7403 0.7812 0.6011 0.5266 0.5180 0.5629 0.5403 0.59 0.74 0.51 0.64 0.46 rs2024863 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5773 0.7439 0.7657 0.5429 0.6112 0.5337 0.5145 0.5700 0.5404 0.5977 0.7406 0.7148 0.5567 0.6439 0.5175 0.5250 0.5584 het 2891.18 229 14 95923670 . A C 2891.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.704;DP=229;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.7129;MQ=58.04;MQ0=0;MQRankSum=-0.707;QD=12.63;ReadPosRankSum=-1.922;VQSLOD=2.3447;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,107:229:99:2921,0,3133 14 96010424 96010424 G A exonic GLRX5 nonsynonymous SNV GLRX5:NM_016417:exon2:c.G436A:p.A146T 0.083 0.043 0.12 0.022 0.14 0.12 0.1198 0.0561 0.1192 0.0223 0.1082 0.1364 0.1585 0.1455 0.12 0.058 0.15 0.098 0.16 rs11628901 COSM3754210 1(large_intestine) Benign not_specified RCV000426977.1 MedGen CN169374 . . . . . . 0.026 0.469 D 0.866 0.456 P 0.082 0.276 B 0.000 0.559 D 0.000 0.588 P 2.035 0.558 M 1.27 0.361 T -2.88 0.605 D 0.173 0.210 -1.060 0.117 T 0.000 0.001 T . . . 5.107 0.688 25.3 0.998 0.857 0.975 0.749 D c 0.190 0.264 1.000 0.747 0.706 0.609 0 4.11 0.472 7.311 0.781 0.902 0.416 1.000 0.715 0.675 0.304 12.827 0.569 . ENSG00000182512.4|ENSG00000182512.4 Esophagus_Mucosa|Lung 0.1232 0.0530 0.1275 0.1549 0.0213 0.1100 0.1413 0.1271 0.1434 0.1054 0.0551 0.1110 0.1689 0.0167 0.1092 0.1411 0.1161 het 777.17 47 14 96010424 . G A 777.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.277;DP=47;Dels=0.00;FS=5.282;HRun=0;HaplotypeScore=3.5640;MQ=59.11;MQ0=0;MQRankSum=-0.077;QD=16.54;ReadPosRankSum=0.520;VQSLOD=4.3164;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,30:47:99:807,0,383 14 96157187 96157187 G A exonic TCL1B nonsynonymous SNV TCL1B:NM_004918:exon2:c.G277A:p.G93R 0.26 0.24 0.34 0.087 0.41 0.26 0.3571 0.2779 0.3080 0.0827 0.2972 0.4335 0.3700 0.2997 0.39 0.29 0.45 0.33 0.5 rs1064017 COSM1371885 2(haematopoietic_and_lymphoid_tissue);1(pancreas);2(skin) . . . . . . . . . . . 0.886 0.025 T 0.946 0.514 P 0.347 0.409 B . . . 1 0.090 P 1.645 0.421 L 1.67 0.273 T -1.67 0.399 N 0.089 0.086 -0.965 0.383 T 0.000 0.000 T . . . 4.004 0.538 23.6 0.993 0.567 0.017 0.053 N c -0.745 -0.918 0.462 0.206 0.615 0.372 0 0.758 0.175 0.351 0.197 0.154 0.240 0.000 0.063 0.000 0.016 2.351 0.040 . . . 0.3564 0.2752 0.3123 0.3731 0.0815 0.3104 0.4442 0.3819 0.3039 0.3541 0.2762 0.3282 0.4603 0.0662 0.3266 0.4359 0.3599 hom 4922.15 142 14 96157187 . G A 4922.15 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8490;MQ=59.18;MQ0=0;QD=34.66;VQSLOD=9.6951;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4922,382,0 14 96707457 96707457 A G exonic BDKRB2 synonymous SNV BDKRB2:NM_000623:exon3:c.A792G:p.T264T 0.86 0.99 0.91 0.82 0.83 0.71 0.8332 0.9762 0.9314 0.8110 0.7683 0.8321 0.7936 0.7182 0.88 0.97 0.84 0.87 0.81 rs5224 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8338 0.9769 0.9262 0.8417 0.8107 0.7735 0.8343 0.8293 0.7136 0.8596 0.9743 0.9010 0.8113 0.7936 0.7728 0.8228 0.7975 hom 4325.07 140 14 96707457 . A G 4325.07 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6766;MQ=59.43;MQ0=0;QD=30.89;VQSLOD=9.1600;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4324,352,0 14 96730142 96730142 A G exonic BDKRB1 synonymous SNV BDKRB1:NM_000710:exon3:c.A123G:p.P41P 0.83 0.93 0.83 0.78 0.84 0.76 0.8300 0.9184 0.8035 0.7812 0.7782 0.8457 0.8282 0.7756 0.87 0.91 0.85 0.84 0.85 rs2071084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8263 0.9162 0.8069 0.8664 0.7822 0.7817 0.8467 0.8256 0.7731 0.8476 0.9125 0.8162 0.8344 0.7773 0.7816 0.8377 0.8041 hom 3230.05 106 14 96730142 . A G 3230.05 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5449;MQ=60.00;MQ0=0;QD=30.47;VQSLOD=8.5878;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3262,274,0 14 96771959 96771959 A G exonic ATG2B nonsynonymous SNV ATG2B:NM_018036:exon31:c.T4700C:p.I1567T 0.89 0.95 0.93 0.76 0.99 0.83 0.9445 0.9512 0.9071 0.7633 0.9917 0.9897 0.9570 0.8592 0.98 0.95 0.99 0.88 0.98 rs2289622 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.287 0.148 N 1 0.090 P -0.55 0.024 N 3.16 0.077 T 2.47 0.002 N 0.038 0.018 -1.002 0.294 T 0.000 0.000 T . . . 1.180 0.208 11.64 0.479 0.039 0.017 0.052 N c -0.911 -0.608 0.977 0.297 0.732 0.924 0 4.51 0.544 1.432 0.343 0.104 0.200 0.162 0.236 0.982 0.498 9.272 0.366 . . . 0.9441 0.9483 0.9141 0.9936 0.7580 0.9913 0.9895 0.9608 0.8613 0.9636 0.9496 0.9451 0.9934 0.7425 0.9914 0.9898 0.9582 hom 1497.33 47 14 96771959 . A G 1497.33 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;QD=31.86;VQSLOD=8.8997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1530,114,0 14 96777468 96777468 G C exonic ATG2B nonsynonymous SNV ATG2B:NM_018036:exon28:c.C4147G:p.Q1383E 0.25 0.11 0.46 0.18 0.41 0.2 0.3552 0.1550 0.4389 0.1992 0.3491 0.4204 0.3437 0.2412 0.34 0.17 0.42 0.23 0.39 rs3759601 COSM3754211 1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.004 0.093 B 0.306 0.145 N 1 0.090 P 0.695 0.181 N 0.93 0.441 T 0.25 0.045 N 0.045 0.025 -0.944 0.420 T 0.000 0.000 T . . . -0.678 0.046 0.081 0.204 0.007 0.291 0.235 N c -0.849 -0.797 1.000 0.439 0.707 0.730 0 2.55 0.296 1.132 0.308 1.048 0.713 0.006 0.172 0.137 0.201 8.827 0.340 . ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10|ENSG00000100744.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Spleen|Thyroid 0.3586 0.1522 0.4353 0.3355 0.2020 0.3541 0.4256 0.3433 0.2368 0.3248 0.1604 0.4386 0.3212 0.2056 0.3601 0.4168 0.3605 het 3092.11 242 14 96777468 . G C 3092.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.618;DP=242;Dels=0.00;FS=0.494;HRun=0;HaplotypeScore=5.9395;MQ=58.88;MQ0=0;MQRankSum=0.810;QD=12.78;ReadPosRankSum=0.565;VQSLOD=5.0212;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,114:242:99:3122,0,3525 14 96781912 96781912 T C exonic ATG2B nonsynonymous SNV ATG2B:NM_018036:exon22:c.A3370G:p.N1124D 0.91 1. 0.93 0.76 0.99 0.83 0.9485 0.9962 0.9092 0.7625 0.9920 0.9899 0.9602 0.8600 0.99 1. 0.99 0.92 0.98 rs9323945 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.201 P -1.455 0.005 N 3.03 0.089 T 1.57 0.007 N 0.003 0.000 -0.958 0.396 T 0.000 0.000 T . . . 0.696 0.160 8.802 0.461 0.036 0.024 0.066 N c -0.841 -0.524 0.997 0.353 0.651 0.465 0 5.19 0.713 3.895 0.557 0.038 0.153 1.000 0.715 0.977 0.480 13.962 0.635 . . . 0.9475 0.9962 0.9164 0.9946 0.7576 0.9914 0.9897 0.9621 0.8618 0.9767 0.9960 0.9487 0.9934 0.7394 0.9914 0.9899 0.9593 hom 1058.76 37 14 96781912 . T C 1058.76 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9831;MQ=55.71;MQ0=0;QD=28.62;VQSLOD=3.5711;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:81.26:1092,81,0 14 96797724 96797724 G A exonic ATG2B synonymous SNV ATG2B:NM_018036:exon11:c.C1719T:p.H573H 0.84 0.95 0.88 0.55 0.98 0.82 0.9206 0.9513 0.8505 0.5581 0.9735 0.9857 0.9365 0.8556 0.98 0.96 0.99 0.85 1. rs1822372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9195 0.9488 0.8632 0.9881 0.5603 0.9737 0.9870 0.9437 0.8574 0.9467 0.9493 0.9093 0.9868 0.5438 0.9737 0.9843 0.9386 hom 2202.38 73 14 96797724 . G A 2202.38 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9203;MQ=59.11;MQ0=0;QD=30.17;VQSLOD=8.4984;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2235,178,0 14 96829290 96829290 G A exonic ATG2B synonymous SNV ATG2B:NM_018036:exon1:c.C24T:p.S8S 0.48 0.26 0.69 0.43 0.68 0.47 0.6202 0.3349 0.6872 0.4261 0.6370 0.6978 0.6298 0.5238 0.6 0.38 0.71 0.41 0.63 rs12434329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6288 0.3333 0.6860 0.6667 0.4326 0.6363 0.7055 0.6240 0.5286 0.5716 0.3365 0.6957 0.6358 0.4325 0.6351 0.6983 0.6074 hom 4004.57 131 14 96829290 . G A 4004.57 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.600;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5914;MQ=59.16;MQ0=0;MQRankSum=-0.833;QD=30.57;ReadPosRankSum=1.415;VQSLOD=8.0473;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,130:131:99:4004,319,0 14 96922752 96922752 C G exonic AK7 nonsynonymous SNV AK7:NM_001350891:exon10:c.C1089G:p.N363K,AK7:NM_001350888:exon11:c.C1167G:p.N389K,AK7:NM_001350890:exon11:c.C1167G:p.N389K,AK7:NM_001350892:exon11:c.C1167G:p.N389K,AK7:NM_152327:exon11:c.C1167G:p.N389K 0.88 0.97 0.81 0.95 0.81 0.83 0.8384 0.9541 0.7593 0.9618 0.7651 0.8340 0.8326 0.8037 0.87 0.95 0.83 0.86 0.89 rs2369679 COSM5618440 1(breast) Benign not_specified RCV000455601.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.513 N 1 0.090 P -2.25 0.001 N 1.45 0.325 T 2.49 0.002 N 0.061 0.045 -1.002 0.292 T 0.000 0.000 T . . . -0.828 0.039 0.037 0.538 0.049 0.006 0.026 N c -1.645 -1.564 0.020 0.133 0.706 0.609 0 -0.452 0.115 -0.001 0.128 0.136 0.221 0.004 0.165 0.339 0.244 6.175 0.195 P-loop containing nucleoside triphosphate hydrolase . . 0.8330 0.9544 0.7740 0.9032 0.9620 0.7579 0.8301 0.8503 0.8041 0.8602 0.9493 0.8067 0.9007 0.9580 0.7699 0.8251 0.7984 het 1361.72 127 14 96922752 . C G 1361.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.954;DP=127;Dels=0.00;FS=6.948;HRun=0;HaplotypeScore=3.9960;MQ=58.90;MQ0=0;MQRankSum=1.049;QD=10.72;ReadPosRankSum=-0.755;VQSLOD=4.5402;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,52:127:99:1392,0,1998 14 96944878 96944878 G A exonic AK7 synonymous SNV AK7:NM_001350892:exon13:c.G1434A:p.A478A,AK7:NM_001350888:exon14:c.G1563A:p.A521A,AK7:NM_001350890:exon14:c.G1563A:p.A521A,AK7:NM_001350891:exon14:c.G1554A:p.A518A,AK7:NM_152327:exon15:c.G1632A:p.A544A 0.046 0.0045 0.073 0.056 0.058 0.061 0.0523 0.0137 0.0777 0.0512 0.0547 0.0513 0.0463 0.0624 0.039 0.014 0.051 0.033 0.025 rs76293597 COSM3999436 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0534 0.0123 0.0738 0.0253 0.0533 0.0513 0.0536 0.0462 0.0629 0.0435 0.0154 0.0526 0.0364 0.0549 0.0470 0.0571 0.0499 het 1950.22 149 14 96944878 . G A 1950.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.058;DP=149;Dels=0.00;FS=2.075;HRun=0;HaplotypeScore=4.1265;MQ=59.44;MQ0=0;MQRankSum=1.715;QD=13.09;ReadPosRankSum=1.894;VQSLOD=4.8845;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,72:149:99:1980,0,1955 14 97299853 97299853 A G exonic VRK1 synonymous SNV VRK1:NM_003384:exon2:c.A45G:p.A15A 0.29 0.21 0.34 0.12 0.39 0.43 0.3565 0.2173 0.3766 0.1173 0.3889 0.3853 0.3731 0.4244 0.33 0.21 0.39 0.3 0.41 rs2145635 COSM3754214 1(large_intestine) other|Benign not_specified|Pontoneocerebellar_hypoplasia RCV000118847.3|RCV000404780.1 MedGen|MedGen:SNOMED_CT CN169374|C1261175:373666002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3573 0.2136 0.3627 0.3161 0.1121 0.3945 0.3903 0.3676 0.4252 0.3264 0.2168 0.3520 0.2933 0.1040 0.3974 0.3943 0.3681 het 714.84 65 14 97299853 . A G 714.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.349;DP=65;Dels=0.00;FS=2.112;HRun=0;HaplotypeScore=2.9874;MQ=58.65;MQ0=0;MQRankSum=0.336;QD=11.00;ReadPosRankSum=-1.651;VQSLOD=5.7627;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,30:65:99:745,0,901 14 97321689 97321689 C T exonic VRK1 synonymous SNV VRK1:NM_003384:exon8:c.C705T:p.G235G 0.42 0.16 0.49 0.84 0.37 0.31 0.3892 0.1729 0.5043 0.8518 0.3941 0.3599 0.3722 0.3201 0.29 0.17 0.35 0.35 0.27 rs2230532 COSM5425460 2(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Pontoneocerebellar_hypoplasia RCV000118848.3|RCV000262267.1 MedGen|MedGen:SNOMED_CT CN169374|C1261175:373666002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3999 0.1688 0.5031 0.4071 0.8551 0.3926 0.3539 0.3925 0.3187 0.3425 0.1756 0.4701 0.4371 0.8554 0.3877 0.3620 0.3827 het 1612.22 143 14 97321689 . C T 1612.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.244;DP=143;Dels=0.00;FS=6.535;HRun=0;HaplotypeScore=2.8624;MQ=58.34;MQ0=0;MQRankSum=1.583;QD=11.27;ReadPosRankSum=-1.421;VQSLOD=4.5261;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,65:143:99:1642,0,1982 14 99182626 99182626 T C exonic C14orf177 nonsynonymous SNV C14orf177:NM_001346978:exon2:c.T98C:p.V33A,C14orf177:NM_182560:exon3:c.T98C:p.V33A,C14orf177:NM_001346979:exon4:c.T98C:p.V33A 0.021 0.0023 0.04 0.001 0.064 0.0092 0.0374 0.0074 0.0231 0 0.0568 0.0529 0.0543 0.0144 0.038 0.0075 0.054 0.022 0.057 rs4905757 . . . . . . . . . . . . . 0.0 0.912 D 0.504 0.353 P 0.373 0.419 B . . . 1 0.090 N 0 0.065 N 1.12 0.402 T -4.0 0.740 D 0.078 0.069 -1.044 0.161 T 0.006 0.020 T . . . -0.761 0.042 0.052 0.470 0.038 0.024 0.067 N c -0.902 -1.046 0.002 0.095 0.487 0.133 0 -0.466 0.115 -0.066 0.115 0.060 0.166 0.000 0.063 0.001 0.043 6.405 0.207 . . . 0.0390 0.0074 0.0247 0.0903 0 0.0558 0.0521 0.0485 0.0145 0.0392 0.0103 0.0406 0.0762 0 0.0604 0.0541 0.0448 het 1198.72 96 14 99182626 . T C 1198.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.561;DP=96;Dels=0.00;FS=5.233;HRun=0;HaplotypeScore=3.2426;MQ=59.06;MQ0=0;MQRankSum=0.392;QD=12.49;ReadPosRankSum=-0.202;VQSLOD=5.6061;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,48:96:99:1229,0,1245 14 100331876 100331876 T C exonic EML1 synonymous SNV EML1:NM_001008707:exon3:c.T276C:p.P92P,EML1:NM_004434:exon3:c.T276C:p.P92P 0.18 0.14 0.2 0.14 0.31 0.15 0.2696 0.1825 0.1649 0.1502 0.3879 0.3278 0.2461 0.1791 0.27 0.2 0.31 0.25 0.28 rs11160553 COSM3999147 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2688 0.1831 0.1744 0.2880 0.1509 0.3891 0.3255 0.2850 0.1793 0.2781 0.1859 0.2041 0.2781 0.1630 0.3943 0.3181 0.3286 het 1907 146 14 100331876 . T C 1907 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.422;DP=146;Dels=0.00;FS=3.932;HRun=2;HaplotypeScore=0.8321;MQ=59.19;MQ0=0;MQRankSum=1.059;QD=13.06;ReadPosRankSum=0.315;VQSLOD=6.4414;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,81:146:99:1937,0,1603 14 100380948 100380948 T C exonic EML1 nonsynonymous SNV EML1:NM_004434:exon15:c.T1666C:p.S556P,EML1:NM_001008707:exon16:c.T1723C:p.S575P 0.66 0.93 0.62 0.59 0.58 0.5 0.6313 0.8811 0.6512 0.5560 0.6478 0.6179 0.5980 0.5486 0.7 0.87 0.62 0.78 0.57 rs2250718 COSM3999148 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . 0.979 0.020 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.191 P -0.33 0.035 N 1.0 0.414 T -0.24 0.108 N 0.356 0.417 -0.994 0.316 T 0.000 0.000 T . . . 2.113 0.315 16.94 0.618 0.066 0.198 0.206 N c -0.581 -0.353 0.766 0.236 0.707 0.730 0 3.02 0.338 2.579 0.455 0.069 0.176 1.000 0.715 0.995 0.604 8.790 0.338 Quinoprotein alcohol dehydrogenase-like superfamily|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.6280 0.8870 0.6481 0.6501 0.5577 0.6407 0.6147 0.6203 0.5482 0.7026 0.8828 0.6706 0.6324 0.5453 0.6467 0.6337 0.6564 het 993.31 76 14 100380948 . T C 993.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.389;DP=76;Dels=0.00;FS=4.608;HRun=1;HaplotypeScore=1.8910;MQ=60.00;MQ0=0;MQRankSum=1.124;QD=13.07;ReadPosRankSum=-0.173;VQSLOD=5.9167;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,37:76:99:1023,0,970 14 100613197 100613197 G A exonic DEGS2 synonymous SNV DEGS2:NM_206918:exon3:c.C873T:p.H291H 0.0028 0.0008 0.0058 . 0.004 0.0051 0.0023 0.0009 0.0012 0 0.0024 0.0033 0.0022 0.0010 0.0017 0.0009 0.0021 0.011 . rs140696950 . . . . . . . . . . . . . 0.18 0.219 T . . . . . . . . . 1 0.810 D . . . 0.35 0.580 T -0.47 0.152 N . . -1.020 0.236 T 0.099 0.371 T 0.016 0.366 T 0.392 0.132 6.547 0.991 0.532 0.824 0.413 D c 0.164 0.212 1.000 0.747 0.421 0.056 0 3.75 0.421 0.832 0.270 0.949 0.536 1.000 0.715 0.998 0.697 8.174 0.303 . . . 0.0022 0.0005 0.0016 0.0021 0 0.0025 0.0031 0.0036 0.0009 0.0019 0.0005 0.0060 0 0 0.0029 0.0023 0.0041 het 2173.52 160 14 100613197 . G A 2173.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.426;DP=160;Dels=0.00;FS=7.223;HRun=1;HaplotypeScore=2.8089;MQ=59.59;MQ0=0;MQRankSum=0.736;QD=13.58;ReadPosRankSum=-0.343;VQSLOD=3.3222;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,83:160:99:2204,0,2074 14 100615665 100615665 T C exonic DEGS2 synonymous SNV DEGS2:NM_206918:exon2:c.A465G:p.T155T 0.9 0.85 0.92 1. 0.89 0.85 0.8929 0.8618 0.9418 0.9981 0.9698 0.8845 0.8839 0.8246 0.87 0.86 0.88 0.89 0.75 rs4905936 COSM3721448 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8962 0.8606 0.9411 0.8344 0.9985 0.9686 0.8823 0.8911 0.8256 0.9031 0.8541 0.9163 0.8477 0.9975 0.9740 0.9035 0.9297 hom 1942.37 64 14 100615665 . T C 1942.37 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.76;MQ0=0;QD=30.35;VQSLOD=8.8793;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1975,174,0 14 100759046 100759046 C A exonic SLC25A29 synonymous SNV SLC25A29:NM_152333:exon3:c.G288T:p.T96T,SLC25A29:NM_001039355:exon4:c.G486T:p.T162T,SLC25A29:NM_001291813:exon5:c.G288T:p.T96T,SLC25A29:NM_001291814:exon5:c.G288T:p.T96T 0.53 0.39 0.61 0.71 0.57 0.45 0.6059 0.4923 0.7122 0.7464 0.6908 0.6056 0.5582 0.5060 0.52 0.44 0.57 0.41 0.5 rs3825555 COSM432664 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5747 0.4309 0.6661 0.5266 0.7061 0.6332 0.5657 0.5710 0.4712 0.5503 0.4252 0.6328 0.5364 0.6922 0.6498 0.5757 0.6178 het 226.03 13 14 100759046 . C A 226.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.437;DP=13;Dels=0.00;FS=2.276;HRun=0;HaplotypeScore=0.9578;MQ=57.07;MQ0=0;MQRankSum=0.978;QD=17.39;ReadPosRankSum=-0.533;VQSLOD=3.7212;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,8:13:99:256,0,119 14 100759277 100759277 C T exonic SLC25A29 synonymous SNV SLC25A29:NM_152333:exon3:c.G57A:p.R19R,SLC25A29:NM_001039355:exon4:c.G255A:p.R85R,SLC25A29:NM_001291813:exon5:c.G57A:p.R19R,SLC25A29:NM_001291814:exon5:c.G57A:p.R19R 0.28 0.19 0.26 0.53 0.31 0.13 0.3350 0.2591 0.3024 0.5666 0.3939 0.3521 0.2753 0.1819 0.26 0.19 0.3 0.24 0.18 rs3742379 COSM432665 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.840 0.810 P . . . . . . -2.5 0.543 D . . -0.924 0.451 T 0.000 0.000 T . . . 0.611 0.152 8.229 0.894 0.182 0.775 0.378 D c -0.293 -0.314 0.989 0.317 0.672 0.522 0 1.99 0.253 -0.001 0.128 0.046 0.159 0.809 0.296 0.811 0.340 3.268 0.064 Mitochondrial carrier domain ENSG00000197119.8|ENSG00000259052.1|ENSG00000197119.8 Skin_Sun_Exposed_Lower_leg|Whole_Blood|Whole_Blood 0.2881 0.2024 0.2593 0.3249 0.5232 0.3006 0.3047 0.2882 0.1532 0.2881 0.1900 0.2727 0.3212 0.5155 0.3020 0.3152 0.3234 het 294.43 15 14 100759277 . C T 294.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.212;DP=15;Dels=0.00;FS=6.008;HRun=0;HaplotypeScore=0.8321;MQ=58.75;MQ0=0;MQRankSum=0.778;QD=19.63;ReadPosRankSum=-0.778;VQSLOD=3.7702;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,10:15:99:324,0,105 14 100795139 100795139 G T exonic SLC25A47 nonsynonymous SNV SLC25A47:NM_207117:exon5:c.G404T:p.R135L 0.33 0.042 0.31 0.23 0.49 0.66 0.4446 0.1072 0.2786 0.2260 0.4171 0.4962 0.4837 0.6687 0.35 0.1 0.48 0.2 0.35 rs35007880 COSM432666 1(pancreas) . . . . . . . . . . . 0.638 0.050 T 0.936 0.504 P 0.541 0.470 P 0.042 0.019 N 0.919 0.548 P 0.93 0.236 L -1.52 0.815 D -0.2 0.102 N 0.249 0.304 -0.944 0.420 T 0.000 0.000 T . . . 3.400 0.467 23.0 0.974 0.333 0.917 0.538 D c 0.040 0.065 1.000 0.747 0.403 0.052 0 3.93 0.445 1.684 0.370 0.953 0.551 0.941 0.324 0.863 0.360 3.200 0.062 Mitochondrial carrier domain ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9|ENSG00000176473.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.4391 0.0966 0.2794 0.4953 0.2332 0.4122 0.5017 0.4542 0.6697 0.3543 0.1014 0.3349 0.4967 0.2571 0.4190 0.4901 0.4347 hom 3144.30 94 14 100795139 . G T 3144.30 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9800;MQ=59.51;MQ0=0;QD=33.45;VQSLOD=9.3738;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3177,256,0 14 100808845 100808845 G A exonic WARS synonymous SNV WARS:NM_213645:exon8:c.C880T:p.L294L,WARS:NM_213646:exon8:c.C880T:p.L294L,WARS:NM_004184:exon9:c.C1003T:p.L335L,WARS:NM_173701:exon9:c.C1003T:p.L335L 0.69 0.44 0.84 0.76 0.76 0.8 0.7464 0.4990 0.8699 0.7862 0.7709 0.7412 0.7841 0.8040 0.66 0.49 0.74 0.49 0.65 rs9453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7574 0.4936 0.8571 0.8092 0.7865 0.7760 0.7372 0.7706 0.8040 0.6779 0.4861 0.8442 0.8046 0.7969 0.7820 0.7349 0.7654 hom 2092.14 68 14 100808845 . G A 2092.14 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=59.45;MQ0=0;QD=30.77;VQSLOD=8.8588;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2125,175,0 14 100847523 100847523 T C exonic WDR25 nonsynonymous SNV WDR25:NM_001161476:exon2:c.T262C:p.W88R,WDR25:NM_001350947:exon2:c.T262C:p.W88R,WDR25:NM_001350948:exon2:c.T262C:p.W88R,WDR25:NM_024515:exon2:c.T262C:p.W88R 1. 0.99 1. 1. 1. 1. 0.9996 0.9963 0.9997 1 1 0.9999 1 1 1. 0.99 1. 0.99 0.97 rs2181170 . . . . . . . . . . . . . 0.883 0.025 T 0.0 0.026 B 0.0 0.013 B 0.493 0.050 N 1 0.090 P -0.69 0.019 N -0.15 0.652 T 1.66 0.006 N 0.013 0.026 -0.994 0.315 T 0.000 0.000 T . . . -1.263 0.023 0.005 0.743 0.103 0.003 0.016 N c -1.296 -1.235 1.000 0.409 0.615 0.372 0 0.938 0.185 -0.329 0.079 0.069 0.176 0.000 0.063 0.090 0.185 4.216 0.099 . . . 0.9997 0.9959 0.9997 1 1 1.0000 0.9999 0.9998 1 0.9984 0.9943 1 1 1 1 1 1 hom 2438.07 80 14 100847523 . T C 2438.07 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6420;MQ=57.77;MQ0=0;QD=30.48;VQSLOD=8.0451;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2471,208,0 14 100847707 100847707 A G exonic WDR25 nonsynonymous SNV WDR25:NM_001161476:exon2:c.A446G:p.H149R,WDR25:NM_001350947:exon2:c.A446G:p.H149R,WDR25:NM_001350948:exon2:c.A446G:p.H149R,WDR25:NM_024515:exon2:c.A446G:p.H149R 0.65 0.66 0.46 0.47 0.73 0.86 0.6968 0.6549 0.3980 0.4409 0.6862 0.7486 0.6949 0.8614 0.72 0.67 0.75 0.67 0.7 rs2273800 COSM3999149 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.399 0.112 T 0.0 0.026 B 0.0 0.013 B 0.017 0.014 N 1 0.090 P 0.205 0.094 N 0.31 0.586 T -0.15 0.152 N 0.015 0.012 -0.967 0.379 T 0.000 0.000 T . . . -1.728 0.012 0.002 0.375 0.025 0.000 0.004 N c -1.588 -1.562 1.000 0.418 0.653 0.482 0 -1.17 0.091 0.408 0.206 -1.752 0.007 0.000 0.063 0.000 0.016 5.849 0.178 . ENSG00000176473.9|ENSG00000176473.9|ENSG00000140105.13|ENSG00000197119.8|ENSG00000176473.9 Cells_Transformed_fibroblasts|Lung|Whole_Blood|Whole_Blood|Whole_Blood 0.6822 0.6508 0.4100 0.6766 0.4464 0.6759 0.7567 0.6771 0.8637 0.6895 0.6585 0.4761 0.6833 0.4635 0.6705 0.7494 0.6745 hom 4068.49 132 14 100847707 . A G 4068.49 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=58.48;MQ0=0;QD=30.82;VQSLOD=9.3115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4068,334,0 14 100847930 100847930 A G exonic WDR25 synonymous SNV WDR25:NM_001161476:exon2:c.A669G:p.P223P,WDR25:NM_001350947:exon2:c.A669G:p.P223P,WDR25:NM_001350948:exon2:c.A669G:p.P223P,WDR25:NM_024515:exon2:c.A669G:p.P223P 0.65 0.65 0.46 0.47 0.73 0.87 0.6973 0.6446 0.3983 0.4419 0.6860 0.7489 0.6947 0.8694 0.72 0.66 0.75 0.67 0.66 rs3742387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6827 0.6402 0.4100 0.6777 0.4469 0.6760 0.7569 0.6771 0.8718 0.6874 0.6497 0.4773 0.6821 0.4627 0.6709 0.75 0.6759 hom 1814.07 59 14 100847930 . A G 1814.07 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7237;MQ=57.92;MQ0=0;QD=30.75;VQSLOD=7.9321;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:59:99:1847,153,0 14 100996312 100996312 T C exonic WDR25 synonymous SNV WDR25:NM_001350950:exon6:c.T795C:p.Y265Y,WDR25:NM_001161476:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350947:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350948:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350949:exon7:c.T819C:p.Y273Y,WDR25:NM_024515:exon7:c.T1569C:p.Y523Y 0.64 0.97 0.61 0.7 0.42 0.39 0.4878 0.8912 0.7110 0.6812 0.4304 0.3933 0.4313 0.3814 0.56 0.88 0.39 0.67 0.37 rs13065 COSM3753777;COSM432668 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4872 0.9001 0.6947 0.3764 0.6756 0.4241 0.3905 0.4596 0.3851 0.5609 0.8916 0.6480 0.4205 0.6591 0.4226 0.3958 0.4353 het 1153.06 108 14 100996312 . T C 1153.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.998;DP=108;Dels=0.00;FS=1.581;HRun=1;HaplotypeScore=6.1249;MQ=59.03;MQ0=0;MQRankSum=-0.034;QD=10.68;ReadPosRankSum=-1.110;VQSLOD=4.8733;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,49:108:99:1183,0,1547 14 101005215 101005215 T C exonic BEGAIN synonymous SNV BEGAIN:NM_001159531:exon6:c.A873G:p.A291A,BEGAIN:NM_020836:exon7:c.A873G:p.A291A 0.65 0.97 0.63 0.71 0.43 0.41 0.5048 0.8889 0.7163 0.6780 0.4679 0.4172 0.4333 0.4054 0.57 0.88 0.41 0.56 0.3 rs12893951 COSM3753778 1(urinary_tract);2(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4958 0.8971 0.7011 0.3790 0.6737 0.4302 0.4011 0.4659 0.3937 0.5760 0.8906 0.6538 0.4233 0.6596 0.4383 0.4225 0.4580 het 158.08 21 14 101005215 . T C 158.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.126;DP=21;Dels=0.00;FS=1.833;HRun=2;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=-0.783;QD=7.53;ReadPosRankSum=1.156;VQSLOD=5.1135;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,7:21:99:188,0,378 14 101005236 101005236 A G exonic BEGAIN synonymous SNV BEGAIN:NM_001159531:exon6:c.T852C:p.H284H,BEGAIN:NM_020836:exon7:c.T852C:p.H284H 0.64 0.97 0.62 0.71 0.41 0.4 0.4885 0.8866 0.7141 0.6772 0.4429 0.3951 0.4282 0.3912 0.56 0.88 0.39 0.61 0.27 rs12892571 COSM1748690 1(urinary_tract);2(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4845 0.8956 0.6963 0.3836 0.6736 0.4157 0.3831 0.4537 0.3835 0.5604 0.8886 0.6478 0.42 0.6586 0.4257 0.3963 0.4386 het 215.88 23 14 101005236 . A G 215.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.031;DP=23;Dels=0.00;FS=1.768;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=1.165;QD=9.39;ReadPosRankSum=0.976;VQSLOD=5.3292;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,9:23:99:246,0,342 14 101198417 101198417 A G exonic DLK1 nonsynonymous SNV DLK1:NM_001317172:exon4:c.A301G:p.R101G,DLK1:NM_003836:exon4:c.A301G:p.R101G 1. 0.99 1. 1. 1. 1. 0.9991 0.9901 0.9996 1 1 1.0000 1 1 1. 0.99 1. 1. 1. rs6575799 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.039 0.242 N 1 0.090 P -3.55 0.000 N -1.59 0.821 D 4.54 0.000 N 0.012 0.153 -0.936 0.432 T 0.000 0.000 T . . . -1.320 0.021 0.004 0.103 0.001 0.021 0.061 N c -1.714 -1.540 0.555 0.214 0.646 0.450 0 1.36 0.210 0.597 0.236 0.138 0.222 0.054 0.214 0.099 0.189 4.896 0.130 EGF-like domain . . 0.9992 0.9893 0.9992 1 1 1 1.0000 0.9995 1 0.9973 0.9904 1 1 1 1 0.9999 1 hom 2821.58 96 14 101198417 . A G 2821.58 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=59.76;MQ0=0;QD=29.39;VQSLOD=8.0411;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2855,244,0 14 101200645 101200645 T C exonic DLK1 synonymous SNV DLK1:NM_001317172:exon5:c.T564C:p.I188I,DLK1:NM_003836:exon5:c.T564C:p.I188I 0.74 0.77 0.68 0.99 0.54 0.69 0.6280 0.7457 0.7848 0.9981 0.6866 0.5239 0.6203 0.6447 0.58 0.75 0.5 0.73 0.58 rs1802710 COSM432669 1(breast);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6283 0.7459 0.7663 0.5486 0.9981 0.6810 0.5069 0.6003 0.6430 0.6445 0.7336 0.6885 0.5695 0.9981 0.6975 0.5404 0.6527 het 1804.42 145 14 101200645 . T C 1804.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.966;DP=145;Dels=0.00;FS=3.181;HRun=0;HaplotypeScore=3.0631;MQ=59.58;MQ0=0;MQRankSum=0.960;QD=12.44;ReadPosRankSum=0.204;VQSLOD=6.3016;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,75:145:99:1834,0,1755 14 102446161 102446161 G A exonic DYNC1H1 synonymous SNV DYNC1H1:NM_001376:exon4:c.G624A:p.P208P 0.21 0.024 0.34 0.44 0.2 0.14 0.2122 0.0450 0.3749 0.4551 0.2011 0.1979 0.2115 0.1383 0.14 0.05 0.19 0.16 0.22 rs3818188 COSM5425374 2(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign|Likely benign not_specified|Intellectual_Disability\x2c_Dominant|Charcot-Marie-Tooth\x2c_Type_2|Spinocerebellar_Ataxia\x2c_Dominant RCV000116919.4|RCV000276537.1|RCV000315011.1|RCV000354888.1 MedGen|MedGen|MedGen|MedGen CN169374|CN239282|CN239171|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2209 0.0403 0.3624 0.2897 0.4570 0.1976 0.1880 0.2278 0.1367 0.1685 0.0398 0.3282 0.2947 0.4611 0.2105 0.1905 0.1701 het 1563.23 146 14 102446161 . G A 1563.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.385;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7200;MQ=59.04;MQ0=0;MQRankSum=-1.936;QD=10.71;ReadPosRankSum=1.706;VQSLOD=4.1480;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,61:146:99:1593,0,2178 14 102550803 102550803 G A exonic HSP90AA1 synonymous SNV HSP90AA1:NM_005348:exon6:c.C1080T:p.N360N,HSP90AA1:NM_001017963:exon7:c.C1446T:p.N482N 0.68 0.28 0.84 0.8 0.84 0.83 0.7869 0.3405 0.8498 0.7833 0.7921 0.8302 0.8106 0.8478 0.68 0.36 0.84 0.61 0.69 rs4947 COSM3753782;COSM3753783 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7977 0.3359 0.8386 0.8300 0.7857 0.7998 0.8336 0.8031 0.8464 0.6844 0.3414 0.8198 0.7980 0.7854 0.7934 0.8314 0.7776 hom 2669.04 90 14 102550803 . G A 2669.04 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.14;MQ0=0;QD=29.66;VQSLOD=7.2081;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2702,217,0 14 102568296 102568296 G A exonic HSP90AA1 synonymous SNV HSP90AA1:NM_001017963:exon2:c.C282T:p.T94T 0.66 0.28 0.85 0.77 0.88 0.72 0.7961 0.3478 0.8579 0.7544 0.8685 0.8609 0.8183 0.7653 0.7 0.37 0.87 0.61 0.75 rs10873531 COSM3753784 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8065 0.3443 0.8463 0.8003 0.7534 0.8751 0.8645 0.8155 0.7627 0.7164 0.3556 0.8246 0.7881 0.7522 0.8698 0.8730 0.8122 hom 5555.79 173 14 102568296 . G A 5555.79 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=32.11;VQSLOD=9.9184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,172:173:99:5555,430,0 14 102568367 102568367 T A exonic HSP90AA1 nonsynonymous SNV HSP90AA1:NM_001017963:exon2:c.A211T:p.M71L 0.8 0.59 0.92 0.82 0.9 0.88 0.8652 0.6557 0.9304 0.8059 0.8742 0.8890 0.8711 0.8822 0.82 0.67 0.89 0.8 0.81 rs8005905 COSM5438547 1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 3.06 0.087 T 0.0 0.070 N 0.018 0.003 -0.963 0.386 T 0.000 0.000 T . . . -1.672 0.013 0.002 0.218 0.008 0.003 0.016 N c -2.229 -2.318 0.862 0.252 0.615 0.372 0 -2.93 0.052 -1.286 0.029 -2.573 0.002 0.000 0.063 0.002 0.062 0.912 0.012 Histidine kinase-like ATPase\x2c C-terminal domain ENSG00000022976.11 Thyroid 0.8699 0.6534 0.9193 0.8580 0.8019 0.8809 0.8909 0.8678 0.8813 0.8229 0.6627 0.8998 0.8477 0.8077 0.8757 0.8980 0.8622 hom 5963.85 209 14 102568367 . T A 5963.85 Mask AC=2;AF=1.00;AN=2;DP=209;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8006;MQ=58.71;MQ0=0;QD=28.54;VQSLOD=8.1609;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,208:209:99:5938,469,0 14 102808330 102808330 C T exonic ZNF839 synonymous SNV ZNF839:NM_001267827:exon8:c.C2250T:p.V750V,ZNF839:NM_001267828:exon8:c.C2250T:p.V750V,ZNF839:NM_018335:exon8:c.C2598T:p.V866V 0.27 0.073 0.26 0.5 0.34 0.23 0.3027 0.1130 0.2035 0.4957 0.4111 0.3276 0.3056 0.2408 0.25 0.11 0.32 0.32 . rs12590618 COSM4147831 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3064 0.1128 0.2251 0.3145 0.4963 0.4139 0.3237 0.3043 0.2422 0.2878 0.1137 0.2380 0.3444 0.4876 0.4223 0.3357 0.3238 hom 1581.91 52 14 102808330 . C T 1581.91 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=30.42;VQSLOD=9.3779;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:52:99:1615,129,0 14 102814945 102814945 G A exonic CINP synonymous SNV CINP:NM_032630:exon5:c.C588T:p.S196S 0.26 0.067 0.25 0.49 0.33 0.24 0.3037 0.1150 0.2119 0.4969 0.4151 0.3253 0.3065 0.2454 0.24 0.11 0.31 0.27 0.31 rs7012 COSM5619176 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2969 0.1052 0.2238 0.2952 0.4939 0.3933 0.3130 0.2904 0.2356 0.2749 0.1058 0.2297 0.3113 0.4876 0.4035 0.3200 0.3098 hom 1418.09 51 14 102814945 . G A 1418.09 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;QD=27.81;VQSLOD=8.6997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1451,117,0 14 103566904 103566904 G A exonic EXOC3L4 synonymous SNV EXOC3L4:NM_001077594:exon1:c.G348A:p.Q116Q 0.2 0.079 0.31 0.34 0.15 0.21 0.2116 0.1004 0.4532 0.3986 0.1734 0.1654 0.1964 0.2071 0.13 0.083 0.15 0.23 0.11 rs1057640 COSM4147835 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2077 0.0867 0.4132 0.1380 0.3843 0.1489 0.1566 0.1769 0.1971 0.1498 0.0838 0.3210 0.1258 0.3752 0.1460 0.1549 0.1622 het 285.56 33 14 103566904 . G A 285.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.463;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8313;MQ=60.00;MQ0=0;MQRankSum=-1.318;QD=8.65;ReadPosRankSum=0.095;VQSLOD=5.4805;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,11:33:99:316,0,565 14 103576395 103576395 G A exonic EXOC3L4 synonymous SNV EXOC3L4:NM_001077594:exon11:c.G2004A:p.A668A 0.31 0.35 0.42 0.42 0.13 0.26 0.3019 0.3644 0.6172 0.5009 0.2896 0.1873 0.2422 0.2648 0.18 0.29 0.12 0.22 0.057 rs729185 COSM1748707 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2374 0.3229 0.5094 0.0798 0.4539 0.1783 0.1262 0.1905 0.2237 0.2132 0.3236 0.3959 0.0927 0.4438 0.1602 0.1306 0.1843 het 363.08 19 14 103576395 . G A 363.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.184;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;MQRankSum=0.570;QD=19.11;ReadPosRankSum=1.096;VQSLOD=6.5859;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,13:19:78.72:393,0,79 14 103576415 103576415 A G exonic EXOC3L4 nonsynonymous SNV EXOC3L4:NM_001077594:exon11:c.A2024G:p.Q675R 0.77 0.63 0.74 0.73 0.92 0.87 0.8567 0.6866 0.6405 0.7174 0.9377 0.9197 0.9036 0.8969 0.85 0.7 0.92 0.45 0.78 rs729184 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.331 N 1 0.090 P -2.135 0.001 N 3.31 0.063 T 1.29 0.010 N 0.183 0.223 -1.009 0.271 T 0.000 0.000 T . . . -0.680 0.046 0.080 0.651 0.075 0.000 0.002 N c -1.391 -1.230 1.0 0.983 0.616 0.391 0 4.05 0.462 1.309 0.329 0.138 0.222 0.003 0.159 0.055 0.167 8.074 0.297 . . . 0.8475 0.6683 0.6492 0.9513 0.7119 0.9393 0.9178 0.8820 0.8939 0.8377 0.6776 0.7249 0.9437 0.7224 0.9349 0.9201 0.9033 hom 632.09 21 14 103576415 . A G 632.09 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=30.10;VQSLOD=8.2501;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:54.13:665,54,0 14 103934488 103934488 T C exonic MARK3 nonsynonymous SNV MARK3:NM_001128921:exon11:c.T992C:p.F331S,MARK3:NM_001128918:exon12:c.T1229C:p.F410S,MARK3:NM_001128919:exon12:c.T1229C:p.F410S,MARK3:NM_001128920:exon12:c.T1181C:p.F394S,MARK3:NM_002376:exon12:c.T1229C:p.F410S 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs10137161 COSM4591893;COSM4591894;COSM4591892 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 hom 5074.96 166 14 103934488 . T C 5074.96 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2312;MQ=58.59;MQ0=0;QD=30.57;VQSLOD=6.6067;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,165:166:99:5074,403,0 14 103986255 103986255 C T exonic CKB synonymous SNV CKB:NM_001823:exon8:c.G1092A:p.E364E 0.64 0.43 0.73 0.82 0.64 0.66 0.6598 0.4878 0.8143 0.8465 0.7085 0.6330 0.6573 0.6489 0.58 0.49 0.63 0.65 0.48 rs1803283 COSM5618743 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6668 0.4822 0.7934 0.5569 0.8440 0.7090 0.6349 0.6590 0.6457 0.6113 0.4639 0.7620 0.5331 0.8441 0.7093 0.6380 0.6762 het 514.41 48 14 103986255 . C T 514.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.348;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=60.00;MQ0=0;MQRankSum=-0.811;QD=10.72;ReadPosRankSum=0.790;VQSLOD=6.0855;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,21:48:99:544,0,724 14 103996396 103996396 G A exonic TRMT61A synonymous SNV TRMT61A:NM_152307:exon2:c.G81A:p.A27A 0.99 0.95 1. 1. 1. 1. 0.9956 0.9512 0.9972 0.9999 1 0.9999 0.9966 1 0.98 0.95 1. 0.98 0.98 rs2765037 COSM4147842 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9962 0.9470 0.9973 1 0.9999 1 0.9998 0.9980 1 0.9867 0.9536 0.9976 1 1 1 0.9998 0.9980 hom 2521.52 78 14 103996396 . G A 2521.52 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=32.33;VQSLOD=9.5932;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2555,202,0 14 104165753 104165753 G A exonic XRCC3 nonsynonymous SNV XRCC3:NM_001100118:exon7:c.C722T:p.T241M,XRCC3:NM_001100119:exon8:c.C722T:p.T241M,XRCC3:NM_005432:exon8:c.C722T:p.T241M 0.22 0.19 0.23 0.073 0.39 0.21 0.3075 0.2232 0.1645 0.0586 0.3179 0.3903 0.3349 0.2474 0.32 0.22 0.38 0.22 0.34 rs861539 COSM1128325 1(prostate);1(thyroid);1(large_intestine) other Cutaneous_malignant_melanoma_6 RCV000009500.3 MedGen:OMIM C3151417:613972 . . . . . . 0.137 0.313 T 0.541 0.360 P 0.19 0.347 B 0.122 0.190 N 1.000 0.090 P 1.175 0.300 L 1.05 0.400 T -1.05 0.305 N 0.112 0.123 -0.912 0.466 T 0.000 0.000 T . . . 0.979 0.188 10.54 0.996 0.711 0.414 0.264 N c -0.678 -0.756 1.000 0.489 0.672 0.522 0 1.35 0.210 0.797 0.265 0.075 0.182 0.000 0.063 0.001 0.043 12.316 0.541 DNA recombination and repair protein Rad51\x2c C-terminal|DNA recombination and repair protein RecA-like\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000126214.16|ENSG00000100711.9|ENSG00000126214.16|ENSG00000126214.16|ENSG00000126214.16|ENSG00000126214.16|ENSG00000126214.16|ENSG00000100711.9|ENSG00000126214.16|ENSG00000256053.3|ENSG00000075413.13|ENSG00000075413.13|ENSG00000075413.13|ENSG00000166165.8|ENSG00000126214.16|ENSG00000075413.13|ENSG00000075413.13 Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2904 0.2044 0.1728 0.4015 0.0542 0.2961 0.3762 0.3098 0.2435 0.2910 0.2072 0.2309 0.4205 0.0514 0.2910 0.3653 0.3113 het 313.64 30 14 104165753 . G A 313.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.789;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;MQRankSum=-0.656;QD=10.45;ReadPosRankSum=-1.164;VQSLOD=5.8846;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,12:30:99:344,0,485 14 104194196 104194196 C G exonic ZFYVE21 synonymous SNV ZFYVE21:NM_001198953:exon3:c.C303G:p.L101L,ZFYVE21:NM_024071:exon3:c.C303G:p.L101L 0.89 0.85 0.8 0.96 0.93 0.9 0.9080 0.8638 0.7204 0.9616 0.9523 0.9354 0.9122 0.9111 0.91 0.86 0.94 0.89 0.87 rs1535100 COSM5828063;COSM3753797 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9007 0.8644 0.7218 0.8878 0.9642 0.9521 0.9376 0.8966 0.9123 0.9153 0.8621 0.7638 0.8742 0.9735 0.9524 0.9392 0.9358 hom 2614.90 82 14 104194196 . C G 2614.90 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8639;MQ=58.75;MQ0=0;QD=31.89;VQSLOD=8.4793;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2648,205,0 14 104452640 104452640 G A exonic TDRD9 synonymous SNV TDRD9:NM_153046:exon8:c.G1098A:p.L366L 0.32 0.27 0.35 0.33 0.36 0.32 0.3549 0.3005 0.3716 0.3561 0.4381 0.3611 0.3685 0.3174 0.33 0.3 0.35 0.26 . rs10143389 COSM147851;COSM147850 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3517 0.2943 0.3556 0.3602 0.3488 0.4355 0.3510 0.3688 0.3132 0.3440 0.2854 0.3517 0.3490 0.3315 0.4327 0.3558 0.3822 hom 1219.66 42 14 104452640 . G A 1219.66 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.495;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;MQRankSum=0.660;QD=29.04;ReadPosRankSum=0.165;VQSLOD=8.7978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,41:42:61.53:1253,62,0 14 104465037 104465037 T C exonic TDRD9 synonymous SNV TDRD9:NM_153046:exon13:c.T1455C:p.A485A 0.94 0.79 0.98 1. 1. 1. 0.9822 0.8085 0.9905 0.9999 1 0.9993 0.9912 0.9996 0.94 0.81 1. 0.87 . rs10133836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9857 0.8035 0.9891 0.9999 1 1 0.9993 0.9914 0.9994 0.9431 0.8010 0.9881 1 1 1 0.9993 0.9898 hom 5918.40 204 14 104465037 . T C 5918.40 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5220;MQ=58.89;MQ0=0;QD=29.01;VQSLOD=8.2262;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:5918,442,0 14 104481083 104481083 T C exonic TDRD9 synonymous SNV TDRD9:NM_153046:exon21:c.T2128C:p.L710L 0.32 0.28 0.34 0.34 0.35 0.31 0.3428 0.2949 0.3612 0.3639 0.4247 0.3447 0.3598 0.3072 0.32 0.3 0.34 0.25 . rs11160779 COSM147852;COSM147853 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3436 0.2940 0.3523 0.3355 0.3608 0.4202 0.3395 0.3606 0.3103 0.3362 0.2842 0.3409 0.3179 0.3360 0.4189 0.3448 0.3737 hom 4194.05 134 14 104481083 . T C 4194.05 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6689;MQ=58.72;MQ0=0;QD=31.30;VQSLOD=6.7809;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4193,325,0 14 104618742 104618742 C G exonic KIF26A nonsynonymous SNV KIF26A:NM_015656:exon3:c.C679G:p.L227V 0.0088 0.0008 0.0072 0.001 0.02 0.017 0.0272 0.0037 0.0130 0 0.0737 0.0318 0.0371 0.0298 0.0095 0.003 0.013 . . rs45472297 . . . . . . . . . . . . . 0.021 0.491 D 0.999 0.764 D 0.987 0.759 D . . . 0.634 0.328 D 2.52 0.738 M -1.79 0.838 D -1.71 0.406 N 0.119 0.132 -0.033 0.816 T 0.414 0.762 T . . . 5.117 0.690 25.4 0.997 0.829 0.897 0.500 D c 0.188 0.086 0.873 0.254 0.722 0.854 0 -0.024 0.132 1.478 0.348 0.022 0.145 1.000 0.715 0.999 0.750 9.373 0.372 . . . 0.0155 0.0023 0.0070 0.0162 6.417e-05 0.0324 0.0169 0.0168 0.0223 0.0125 0.0037 0.0060 0.0166 0 0.0292 0.0148 0.0215 het 44.05 10 14 104618742 . C G 44.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.580;DP=10;Dels=0.00;FS=3.010;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.546;QD=4.41;ReadPosRankSum=1.214;VQSLOD=3.0980;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,3:10:74.04:74,0,211 14 104641792 104641792 C T exonic KIF26A synonymous SNV KIF26A:NM_015656:exon12:c.C2667T:p.A889A 0.45 0.67 0.32 0.39 0.34 0.4 0.4016 0.6544 0.3746 0.3818 0.3842 0.3749 0.4159 0.4056 0.42 0.59 0.34 0.56 . rs2487305 COSM432716 1(haematopoietic_and_lymphoid_tissue);1(liver);2(thyroid);7(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3729 0.6371 0.3443 0.5130 0.3721 0.3329 0.3365 0.3778 0.3832 0.4097 0.6293 0.3377 0.5397 0.3544 0.3115 0.3164 0.3432 het 191.44 15 14 104641792 . C T 191.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.872;DP=15;Dels=0.00;FS=2.081;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.652;QD=12.76;ReadPosRankSum=-0.772;VQSLOD=5.5967;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:221,0,202 14 104643421 104643421 T C exonic KIF26A synonymous SNV KIF26A:NM_015656:exon12:c.T4296C:p.L1432L 0.46 0.59 0.36 0.4 0.38 0.52 0.4325 0.5882 0.3799 0.3927 0.4051 0.4067 0.4446 0.5157 0.43 0.53 0.38 0.54 . rs2487302 COSM3749263 4(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4187 0.5737 0.3712 0.5323 0.3972 0.3844 0.3848 0.4205 0.5031 0.4264 0.5629 0.3747 0.5497 0.3817 0.3765 0.3666 0.3845 het 56.06 23 14 104643421 . T C 56.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.933;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=58.99;MQ0=0;MQRankSum=0.122;QD=2.44;ReadPosRankSum=-1.095;VQSLOD=2.8869;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,4:23:86.06:86,0,471 14 105070791 105070791 G T exonic TMEM179 synonymous SNV TMEM179:NM_001286389:exon1:c.C288A:p.L96L,TMEM179:NM_001286390:exon1:c.C288A:p.L96L 0.61 0.69 0.53 0.37 0.77 0.65 0.7232 0.7179 0.5521 0.4671 0.8005 0.7837 0.7592 0.6756 0.76 0.7 0.78 0.66 0.34 rs3803313 COSM1562728;COSM4147852 1(urinary_tract);1(thyroid);9(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6569 0.6776 0.4268 0.7916 0.3663 0.7577 0.7585 0.6986 0.6361 0.7154 0.6684 0.5097 0.8079 0.3713 0.7657 0.7791 0.6977 het 147.01 18 14 105070791 . G T 147.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.359;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-1.177;QD=8.17;ReadPosRankSum=0.815;VQSLOD=5.7633;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,7:18:99:177,0,270 14 105167807 105167807 C T exonic INF2 synonymous SNV INF2:NM_001031714:exon2:c.C105T:p.P35P,INF2:NM_022489:exon2:c.C105T:p.P35P,INF2:NM_032714:exon2:c.C105T:p.P35P 0.99 1. 0.97 1. 0.97 0.99 0.9783 0.9957 0.9824 1 0.9609 0.9718 0.9677 0.9854 0.98 1. 0.98 0.89 0.79 rs4983530 . . Benign|Benign not_specified|Focal_segmental_glomerulosclerosis RCV000251400.3|RCV000316653.1 MedGen|MedGen CN169374|CN043606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9778 0.9959 0.9820 0.9563 0.9999 0.9619 0.9736 0.9681 0.9873 0.9820 0.9947 0.9749 0.9470 1 0.9645 0.9784 0.9735 hom 654.05 21 14 105167807 . C T 654.05 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.15;VQSLOD=14.2017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:54.17:687,54,0 14 105179194 105179194 T C exonic INF2 synonymous SNV INF2:NM_001031714:exon18:c.T2640C:p.D880D,INF2:NM_022489:exon18:c.T2640C:p.D880D 0.91 0.99 0.91 0.95 0.85 0.82 0.8608 0.9744 0.9054 0.9439 0.7960 0.8414 0.8482 0.8234 0.88 0.97 0.84 0.94 . rs10133301 COSM3753812;COSM3753813;COSM3753811 1(thyroid);1(large_intestine) Benign|Benign not_specified|Focal_segmental_glomerulosclerosis RCV000248935.2|RCV000271283.1 MedGen|MedGen CN169374|CN043606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8606 0.9755 0.9009 0.9049 0.9483 0.7870 0.8407 0.8676 0.8199 0.8727 0.9738 0.8962 0.9067 0.9487 0.7907 0.8246 0.8439 hom 2169.68 63 14 105179194 . T C 2169.68 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3696;MQ=59.27;MQ0=0;QD=34.44;VQSLOD=8.1543;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2203,181,0 14 105344293 105344293 C T exonic CEP170B synonymous SNV CEP170B:NM_015005:exon3:c.C57T:p.F19F,CEP170B:NM_001112726:exon4:c.C267T:p.F89F 0.35 0.13 0.52 0.2 0.57 0.47 0.5391 0.2538 0.5240 0.2162 0.5997 0.6066 0.5662 0.5350 0.45 0.21 0.57 0.18 . rs61995995 COSM4147859;COSM4147860 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5004 0.2029 0.4745 0.6558 0.1731 0.5600 0.5714 0.5402 0.4983 0.4356 0.2077 0.4725 0.6779 0.1752 0.5664 0.5558 0.4979 het 253.38 33 14 105344293 . C T 253.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.940;DP=33;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9931;MQ=58.15;MQ0=0;MQRankSum=0.018;QD=7.68;ReadPosRankSum=-1.713;VQSLOD=4.2962;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,13:33:99:283,0,495 14 105349388 105349388 A C exonic CEP170B synonymous SNV CEP170B:NM_015005:exon7:c.A384C:p.P128P,CEP170B:NM_001112726:exon8:c.A594C:p.P198P 0.52 0.52 0.59 0.23 0.67 0.61 0.6474 0.5682 0.5757 0.3008 0.6392 0.6768 0.6762 0.6815 0.62 0.53 0.66 0.52 . rs2028414 COSM3753824;COSM3753825 1(liver);2(large_intestine) . . . . . IgG glycosylation . .14 23382691 rs2028414 8E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5777 0.4966 0.5278 0.7005 0.2010 0.6601 0.6399 0.6061 0.6212 0.5815 0.5062 0.5397 0.73 0.2070 0.6646 0.6431 0.6206 het 35.44 10 14 105349388 . A C 35.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.072;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7825;MQ=60.00;MQ0=0;MQRankSum=-1.447;QD=3.54;ReadPosRankSum=1.036;VQSLOD=2.6276;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:65.43:65,0,201 14 105350799 105350799 C T exonic CEP170B synonymous SNV CEP170B:NM_015005:exon8:c.C1473T:p.D491D,CEP170B:NM_001112726:exon9:c.C1683T:p.D561D 0.49 0.27 0.64 0.22 0.77 0.65 0.6962 0.4277 0.6093 0.2853 0.7049 0.7627 0.7069 0.7024 0.66 0.41 0.78 . . rs9788593 COSM4147864;COSM4147863 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6535 0.3129 0.5735 0.8200 0.1804 0.7204 0.7643 0.7126 0.6916 0.5995 0.3384 0.5874 0.8818 0.1898 0.7318 0.7509 0.6677 hom 279.67 12 14 105350799 . C T 279.67 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.72;MQ0=0;QD=23.31;VQSLOD=7.8739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:24.08:313,24,0 14 105350868 105350868 C T exonic CEP170B synonymous SNV CEP170B:NM_015005:exon8:c.C1542T:p.A514A,CEP170B:NM_001112726:exon9:c.C1752T:p.A584A 0.49 0.27 0.64 0.23 0.77 0.65 0.6745 0.3860 0.5767 0.2533 0.6916 0.7501 0.7083 0.7036 0.65 0.4 0.78 . . rs9788594 COSM4147866;COSM4147865 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6492 0.3066 0.5719 0.8194 0.1826 0.7149 0.7603 0.7074 0.6932 0.5972 0.3374 0.5842 0.8801 0.1936 0.7251 0.7495 0.6656 hom 285.20 12 14 105350868 . C T 285.20 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.77;VQSLOD=12.3273;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:27.05:318,27,0 14 105354293 105354293 A G exonic CEP170B synonymous SNV CEP170B:NM_015005:exon11:c.A3507G:p.S1169S,CEP170B:NM_001112726:exon12:c.A3717G:p.S1239S 0.56 0.55 0.65 0.23 0.78 0.65 0.7221 0.5920 0.6186 0.2978 0.7617 0.7858 0.7290 0.7313 0.73 0.6 0.79 0.54 . rs2582548 COSM1128319;COSM1128321 1(prostate);1(thyroid);8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6646 0.5346 0.5871 0.8276 0.2015 0.7152 0.7722 0.7253 0.6957 0.6589 0.5455 0.6002 0.89 0.2070 0.7287 0.7538 0.6848 hom 365.85 13 14 105354293 . A G 365.85 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.14;VQSLOD=13.7049;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:33.08:399,33,0 14 105405599 105405599 G C exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.C15889G:p.P5297A,AHNAK2:NM_138420:exon7:c.C16189G:p.P5397A 0.56 0.64 0.51 0.41 0.53 0.64 0.5452 0.6543 0.4789 0.4327 0.4018 0.5501 0.5479 0.6227 0.58 0.67 0.54 0.59 . rs3742935 COSM1128317;COSM147857 1(stomach);1(skin);5(prostate) . . . . . . . . . . . 0.413 0.353 T 0.975 0.561 D 0.672 0.513 P 0.272 0.151 U 0.987 0.245 P 0.895 0.225 L 4.11 0.029 T -4.03 0.743 D 0.216 0.265 -1.219 0.001 T 0.000 0.000 T . . . 4.640 0.622 24.5 0.968 0.304 0.838 0.426 D c 0.086 0.104 1.000 0.747 0.635 0.413 0 4.36 0.515 1.807 0.383 0.998 0.613 0.978 0.348 0.979 0.486 11.002 0.466 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex|Skin_Sun_Exposed_Lower_leg 0.5382 0.6538 0.4835 0.6581 0.4322 0.4057 0.5471 0.5595 0.6215 0.5371 0.6485 0.5180 0.7020 0.4418 0.4111 0.5152 0.4542 hom 2296.61 75 14 105405599 . G C 2296.61 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.62;VQSLOD=13.3871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2330,184,0 14 105405942 105405942 G A exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.C15546T:p.L5182L,AHNAK2:NM_138420:exon7:c.C15846T:p.L5282L 0.55 0.64 0.51 0.41 0.53 0.64 0.5455 0.6543 0.4795 0.4336 0.4021 0.5505 0.5480 0.6228 0.59 0.67 0.54 0.56 . rs28454709 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5384 0.6540 0.4838 0.6580 0.4326 0.4059 0.5474 0.5597 0.6215 0.5364 0.6483 0.5179 0.7 0.4398 0.4109 0.5140 0.4550 hom 3014.91 91 14 105405942 . G A 3014.91 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3295;MQ=57.94;MQ0=0;QD=33.13;VQSLOD=7.2273;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3048,244,0 14 105406238 105406238 A C exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.T15250G:p.Y5084D,AHNAK2:NM_138420:exon7:c.T15550G:p.Y5184D 0.59 0.76 0.52 0.41 0.55 0.64 0.5535 0.7388 0.4837 0.4340 0.4020 0.5515 0.5546 0.6233 0.61 0.75 0.54 0.63 . rs2819419 COSM147858;COSM3927713 1(stomach);1(oesophagus);1(skin);6(prostate);1(thyroid);1(central_nervous_system) . . . . . . . . . . . 0.654 0.048 T 0.0 0.026 B 0.0 0.013 B 0.416 0.129 N 1 0.090 P -0.345 0.033 N 4.25 0.026 T 3.03 0.005 N 0.066 0.052 -1.097 0.045 T 0.000 0.000 T . . . -1.076 0.029 0.011 0.433 0.032 0.000 0.002 N c -1.447 -1.376 0.974 0.294 0.707 0.730 0 2.0 0.254 -0.484 0.066 -0.334 0.073 0.000 0.063 0.001 0.043 3.689 0.078 PDZ domain ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex 0.5453 0.7402 0.4887 0.6583 0.4327 0.4057 0.5483 0.5659 0.6219 0.5610 0.7331 0.5215 0.7020 0.4405 0.4113 0.5152 0.4530 hom 8312.54 245 14 105406238 . A C 8312.54 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.31;MQ0=0;QD=33.93;VQSLOD=9.7636;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:8312,662,0 14 105406372 105406372 C T exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.G15116A:p.G5039E,AHNAK2:NM_138420:exon7:c.G15416A:p.G5139E 0.29 0.24 0.32 0.084 0.48 0.37 0.4138 0.2805 0.2428 0.0828 0.3704 0.5053 0.4597 0.4305 0.43 0.29 0.49 0.33 . rs61421370 COSM5905007;COSM5905008 1(skin) . . . . . . . . . . . 1.0 0.139 T 0.244 0.293 B 0.063 0.256 B 0.708 0.062 U 1 0.090 P 0.55 0.145 N 4.17 0.028 T -1.32 0.346 N 0.181 0.221 -0.906 0.474 T 0.000 0.000 T . . . 0.380 0.131 6.436 0.472 0.038 0.022 0.064 N c -1.130 -1.262 0.993 0.331 0.707 0.730 0 -1.83 0.074 -2.037 0.015 -0.487 0.053 0.000 0.063 0.000 0.016 0.421 0.004 PDZ domain ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000185567.6|ENSG00000140104.9|ENSG00000258701.1 Adrenal_Gland|Brain_Cerebellum|Brain_Cortex|Esophagus_Muscularis|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4075 0.2741 0.2526 0.6103 0.0846 0.3744 0.5010 0.4592 0.4345 0.3810 0.2771 0.3146 0.6533 0.0931 0.3849 0.4714 0.3605 hom 5665.26 159 14 105406372 . C T 5665.26 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6875;MQ=59.86;MQ0=0;QD=35.63;VQSLOD=5.8088;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,158:159:99:5665,463,0 14 105407031 105407031 A G exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.T14457C:p.S4819S,AHNAK2:NM_138420:exon7:c.T14757C:p.S4919S 0.55 0.64 0.51 0.41 0.53 0.64 0.5460 0.6543 0.4796 0.4339 0.4027 0.5512 0.5481 0.6231 0.58 0.67 0.54 0.59 . rs11623422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5384 0.6538 0.4838 0.6580 0.4328 0.4057 0.5474 0.5588 0.6218 0.5370 0.6480 0.5191 0.7020 0.4411 0.4115 0.5150 0.4529 hom 994.37 32 14 105407031 . A G 994.37 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.07;VQSLOD=14.2049;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:78.25:1027,78,0 14 105407208 105407208 T C exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.A14280G:p.V4760V,AHNAK2:NM_138420:exon7:c.A14580G:p.V4860V 0.55 0.64 0.51 0.41 0.53 0.64 0.5483 0.6569 0.4825 0.4377 0.4045 0.5529 0.5598 0.6241 0.58 0.67 0.54 0.59 . rs11851053 COSM5427799 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5387 0.6546 0.4842 0.6572 0.4331 0.4062 0.5476 0.5597 0.6217 0.5370 0.6484 0.5192 0.7020 0.4412 0.4113 0.5151 0.4530 hom 408.66 15 14 105407208 . T C 408.66 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.24;VQSLOD=13.9835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:33.11:442,33,0 14 105407798 105407798 T C exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.A13690G:p.T4564A,AHNAK2:NM_138420:exon7:c.A13990G:p.T4664A 0.56 0.64 0.51 0.41 0.53 0.64 0.5458 0.6541 0.4802 0.4338 0.4020 0.5510 0.5470 0.6229 0.58 0.67 0.54 0.59 . rs4465542 COSM5445630 1(oesophagus) . . . . . . . . . . . 0.297 0.146 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 6.13 0.006 T -0.05 0.078 N 0.01 0.001 -1.026 0.217 T 0.000 0.000 T . . . -1.623 0.014 0.002 0.247 0.011 0.001 0.004 N c -1.929 -1.996 0.995 0.340 0.672 0.522 0 -3.43 0.045 0.520 0.224 -1.345 0.013 0.000 0.063 0.002 0.062 2.145 0.035 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex|Skin_Sun_Exposed_Lower_leg 0.5384 0.6536 0.4838 0.6581 0.4327 0.4059 0.5474 0.5596 0.6216 0.5366 0.6479 0.5191 0.7020 0.4418 0.4109 0.5145 0.4532 hom 2333.88 76 14 105407798 . T C 2333.88 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=30.71;VQSLOD=9.3483;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2367,190,0 14 105408030 105408030 A G exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.T13458C:p.D4486D,AHNAK2:NM_138420:exon7:c.T13758C:p.D4586D 0.56 0.64 0.51 0.41 0.53 0.64 0.5458 0.6545 0.4806 0.4346 0.4020 0.5506 0.5480 0.6230 0.58 0.67 0.54 0.59 . rs9671643 COSM4147872 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5386 0.6540 0.4849 0.6579 0.4329 0.4059 0.5474 0.5603 0.6216 0.5384 0.6501 0.5204 0.7020 0.4441 0.4114 0.5163 0.4530 hom 7814.75 245 14 105408030 . A G 7814.75 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7331;MQ=59.51;MQ0=0;QD=31.90;VQSLOD=8.2557;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:7813,674,0 14 105408315 105408315 T C exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.A13173G:p.P4391P,AHNAK2:NM_138420:exon7:c.A13473G:p.P4491P 0.56 0.65 0.51 0.41 0.53 0.64 0.5458 0.6552 0.4802 0.4350 0.4020 0.5505 0.5479 0.6227 0.59 0.68 0.54 0.59 . rs28600075 COSM3931880 1(urinary_tract);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5385 0.6545 0.4842 0.6568 0.4329 0.4059 0.5474 0.5602 0.6215 0.5382 0.6505 0.5191 0.7020 0.4419 0.4118 0.5163 0.4528 hom 8216.04 249 14 105408315 . T C 8216.04 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2158;MQ=59.47;MQ0=1;QD=33.00;VQSLOD=4.5303;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8214,698,0 14 105408955 105408955 A G exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.T12533C:p.V4178A,AHNAK2:NM_138420:exon7:c.T12833C:p.V4278A 0.58 0.74 0.52 0.41 0.53 0.63 0.5518 0.7221 0.4842 0.4357 0.4020 0.5508 0.5523 0.6221 0.6 0.73 0.54 0.59 . rs2819422 COSM3765732 1(liver);1(lung) . . . . . . . . . . . 0.386 0.110 T 0.0 0.026 B 0.006 0.112 B . . . 1 0.090 P 0.075 0.083 N 5.22 0.012 T 0.32 0.040 N 0.108 0.115 -0.949 0.411 T 0.000 0.000 T . . . -2.427 0.004 0.001 0.192 0.006 0.001 0.007 N c -2.135 -2.205 0.993 0.331 0.707 0.730 0 -0.353 0.119 -3.253 0.006 -2.899 0.002 0.000 0.063 0.000 0.016 . . . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex|Skin_Sun_Exposed_Lower_leg 0.5438 0.7236 0.4887 0.6594 0.4333 0.4059 0.5477 0.5652 0.6214 0.5569 0.7137 0.5277 0.6967 0.4431 0.4111 0.5174 0.4532 hom 7714.38 245 14 105408955 . A G 7714.38 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8457;MQ=52.70;MQ0=0;QD=31.49;VQSLOD=2.9726;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:7713,656,0 14 105409907 105409907 T C exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.A11581G:p.M3861V,AHNAK2:NM_138420:exon7:c.A11881G:p.M3961V 0.25 0.064 0.3 0.086 0.49 0.37 0.3986 0.1191 0.2340 0.0854 0.3703 0.5032 0.4432 0.4300 0.37 0.13 0.49 0.2 . rs10141053 COSM4147873 1(thyroid) . . . . . . . . . . . 0.821 0.029 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P -1.81 0.003 N 5.91 0.007 T 0.82 0.018 N 0.029 0.010 -1.031 0.201 T 0.000 0.000 T . . . -2.862 0.002 0.001 0.314 0.018 0.001 0.009 N c -2.060 -1.979 0.000 0.053 0.707 0.730 0 -1.33 0.086 -2.756 0.009 -2.887 0.002 0.000 0.063 0.000 0.016 5.609 0.166 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000185567.6|ENSG00000140104.9 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg 0.3953 0.1144 0.2420 0.6070 0.0878 0.3738 0.4996 0.4507 0.4341 0.3460 0.1229 0.3098 0.6433 0.1001 0.3858 0.4825 0.3708 hom 7481.55 250 14 105409907 . T C 7481.55 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3755;MQ=51.03;MQ0=2;QD=29.93;VQSLOD=3.1872;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7445,671,0 14 105409959 105409959 G T exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.C11529A:p.A3843A,AHNAK2:NM_138420:exon7:c.C11829A:p.A3943A 0.55 0.64 0.51 0.41 0.54 0.64 0.5443 0.6456 0.4787 0.4291 0.4018 0.5502 0.5489 0.6227 0.59 0.67 0.54 0.52 . rs10152073 COSM3765733 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5380 0.6451 0.4853 0.6594 0.4320 0.4055 0.5473 0.5599 0.6215 0.5360 0.6401 0.5204 0.6980 0.4431 0.4109 0.5176 0.4550 hom 8681.64 250 14 105409959 . G T 8681.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.1912;MQ=54.16;MQ0=0;MQRankSum=-0.293;QD=34.73;ReadPosRankSum=-0.112;VQSLOD=2.8159;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8680,713,0 14 105410183 105410183 T C exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.A11305G:p.M3769V,AHNAK2:NM_138420:exon7:c.A11605G:p.M3869V 0.56 0.64 0.51 0.41 0.53 0.64 0.5462 0.6550 0.4816 0.4359 0.4019 0.5507 0.5491 0.6235 0.59 0.68 0.54 0.56 . rs10438246 COSM4147874 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.5 0.005 N 5.58 0.009 T 1.36 0.009 N 0.03 0.011 -1.126 0.020 T 0.000 0.000 T . . . -3.030 0.001 0.001 0.315 0.018 0.002 0.012 N c -2.169 -2.131 0.000 0.056 0.707 0.730 0 -2.03 0.069 -4.210 0.003 -4.188 0.000 0.000 0.063 0.000 0.016 6.355 0.205 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex|Skin_Sun_Exposed_Lower_leg 0.5392 0.6554 0.4858 0.6594 0.4337 0.4057 0.5477 0.5603 0.6225 0.5395 0.6526 0.5240 0.7020 0.4433 0.4116 0.5173 0.4526 hom 8248.80 249 14 105410183 . T C 8248.80 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7270;MQ=58.72;MQ0=0;QD=33.13;VQSLOD=8.5125;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:8247,707,0 14 105410411 105410411 C T exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.G11077A:p.D3693N,AHNAK2:NM_138420:exon7:c.G11377A:p.D3793N 0.55 0.63 0.51 0.41 0.53 0.63 0.5304 0.6011 0.4732 0.3883 0.3996 0.5461 0.5359 0.5921 0.58 0.66 0.54 0.59 . rs11160825 . . . . . . . . . . . . . 0.015 0.524 D 0.792 0.427 P 0.125 0.310 B 0.645 0.106 N 1 0.090 P 2.135 0.597 M 4.62 0.019 T -2.71 0.577 D 0.014 0.002 -1.072 0.090 T 0.000 0.000 T . . . 2.725 0.389 21.0 0.746 0.104 0.055 0.113 N c -0.940 -1.097 0.000 0.054 0.707 0.730 0 1.37 0.211 1.157 0.311 -0.123 0.113 0.023 0.197 0.005 0.090 6.660 0.221 . ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex 0.5351 0.6343 0.4835 0.6586 0.4224 0.4053 0.5464 0.5574 0.6155 0.5103 0.5922 0.5060 0.6905 0.3935 0.4059 0.5021 0.4428 hom 8828.36 250 14 105410411 . C T 8828.36 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9386;MQ=59.35;MQ0=0;QD=35.31;VQSLOD=5.7868;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8827,710,0 14 105410827 105410827 C T exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.G10661A:p.G3554E,AHNAK2:NM_138420:exon7:c.G10961A:p.G3654E 0.55 0.63 0.51 0.41 0.53 0.64 0.5448 0.6417 0.4815 0.4352 0.4019 0.5506 0.5457 0.6227 0.59 0.67 0.54 0.59 . rs28380382 . . . . . . . . . . . . . 0.071 0.351 T 0.395 0.329 B 0.158 0.330 B . . . 1 0.090 P 2.34 0.674 M 4.26 0.026 T -2.65 0.567 D 0.09 0.088 -0.882 0.496 T 0.000 0.000 T . . . 3.578 0.487 23.2 0.974 0.331 0.048 0.103 N c -0.988 -1.127 0.000 0.052 0.707 0.730 0 0.827 0.179 -0.031 0.121 -0.042 0.124 0.000 0.063 0.001 0.043 1.727 0.027 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex|Skin_Sun_Exposed_Lower_leg 0.5380 0.6424 0.4848 0.6594 0.4334 0.4057 0.5476 0.5596 0.6213 0.5338 0.6373 0.5215 0.7 0.4421 0.4112 0.5150 0.4548 hom 8520.75 250 14 105410827 . C T 8520.75 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0688;MQ=57.84;MQ0=0;QD=34.08;VQSLOD=5.9657;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8520,686,0 14 105411153 105411153 G A exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.C10335T:p.P3445P,AHNAK2:NM_138420:exon7:c.C10635T:p.P3545P 0.24 0.079 0.3 0.087 0.46 0.36 0.3869 0.1394 0.2252 0.0843 0.3344 0.4868 0.4161 0.4203 0.37 0.15 0.48 0.24 . rs34499888 COSM1368611 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3822 0.1355 0.2317 0.5777 0.0860 0.3422 0.4837 0.4359 0.4248 0.3291 0.1348 0.2907 0.6167 0.0968 0.3574 0.4562 0.3480 hom 8495.59 249 14 105411153 . G A 8495.59 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6442;MQ=57.43;MQ0=0;QD=34.12;VQSLOD=5.1554;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8494,683,0 14 105411700 105411700 A G exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.T9788C:p.V3263A,AHNAK2:NM_138420:exon7:c.T10088C:p.V3363A 0.56 0.68 0.51 0.41 0.53 0.63 0.5493 0.6846 0.4849 0.4384 0.4019 0.5515 0.5537 0.6217 0.6 0.71 0.54 0.54 . rs4264326 COSM1128312 1(prostate);1(thyroid);1(thymus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.003 N 1 0.090 P -0.275 0.037 N 5.25 0.012 T 0.19 0.050 N 0.069 0.056 -1.036 0.187 T 0.000 0.000 T . . . -1.157 0.026 0.008 0.222 0.009 0.004 0.021 N c -1.361 -1.292 0.000 0.065 0.707 0.730 0 3.13 0.349 0.972 0.288 0.038 0.153 0.002 0.151 0.000 0.016 5.281 0.149 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex|Skin_Sun_Exposed_Lower_leg 0.5419 0.6882 0.4884 0.6591 0.4365 0.4058 0.5482 0.5649 0.6208 0.5521 0.6891 0.5288 0.7020 0.45 0.4111 0.5211 0.4548 hom 8032 250 14 105411700 . A G 8032 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.679;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4227;MQ=57.89;MQ0=0;MQRankSum=0.457;QD=32.13;ReadPosRankSum=0.263;VQSLOD=3.8486;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7992,654,0 14 105411781 105411781 G A exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.C9707T:p.P3236L,AHNAK2:NM_138420:exon7:c.C10007T:p.P3336L 0.54 0.59 0.51 0.41 0.53 0.63 0.5416 0.6145 0.4741 0.4388 0.4019 0.5501 0.5459 0.6203 0.58 0.65 0.54 0.45 . rs10438247 COSM432734 1(thyroid) . . . . . . . . . . . 0.014 0.531 D 0.999 0.764 D 0.909 0.628 D . . . 1 0.588 P 2.495 0.729 M 4.05 0.031 T -4.13 0.751 D 0.197 0.241 -1.016 0.250 T 0.000 0.000 T . . . 4.759 0.638 24.7 0.997 0.802 0.276 0.231 N c 0.085 -0.199 0.308 0.193 0.707 0.730 0 2.91 0.328 4.127 0.575 0.799 0.323 1.000 0.715 0.001 0.043 12.566 0.555 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex|Skin_Sun_Exposed_Lower_leg 0.5352 0.6194 0.4777 0.6584 0.4361 0.4058 0.5470 0.5588 0.6192 0.5242 0.6171 0.5145 0.6980 0.4386 0.4107 0.5087 0.4466 hom 7702.94 249 14 105411781 . G A 7702.94 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.239;DP=249;DS;Dels=0.00;FS=3.880;HRun=0;HaplotypeScore=6.6118;MQ=53.12;MQ0=0;MQRankSum=0.253;QD=30.94;ReadPosRankSum=-1.352;VQSLOD=2.2917;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,246:249:99:7664,575,0 14 105413204 105413204 G T exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.C8284A:p.R2762S,AHNAK2:NM_138420:exon7:c.C8584A:p.R2862S 0.57 0.71 0.52 0.39 0.53 0.63 0.5477 0.6988 0.4809 0.4140 0.4013 0.5508 0.5523 0.6201 0.59 0.71 0.54 0.6 . rs2582514 COSM1368617 1(liver) . . . . . . . . . . . 0.602 0.056 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.91 0.002 N 5.81 0.007 T 2.22 0.003 N 0.018 0.003 -1.102 0.038 T 0.000 0.000 T . . . -0.147 0.080 1.404 0.420 0.030 0.000 0.003 N c -1.790 -1.708 0.000 0.052 0.707 0.730 0 0.525 0.162 -0.181 0.097 -0.026 0.128 0.000 0.063 0.000 0.016 5.562 0.163 . ENSG00000140104.9|ENSG00000140104.9 Brain_Cortex|Skin_Sun_Exposed_Lower_leg 0.5410 0.7024 0.4875 0.6584 0.4123 0.4057 0.5484 0.5667 0.6205 0.5494 0.6992 0.5265 0.6946 0.4187 0.4098 0.5151 0.4497 hom 8344.06 250 14 105413204 . G T 8344.06 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8935;MQ=52.49;MQ0=3;QD=33.38;VQSLOD=3.2760;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8319,677,0 14 105413223 105413223 A G exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.T8265C:p.D2755D,AHNAK2:NM_138420:exon7:c.T8565C:p.D2855D 0.53 0.53 0.51 0.43 0.53 0.64 0.5379 0.5618 0.4742 0.4513 0.4010 0.5497 0.5401 0.6203 0.55 0.58 0.54 0.53 . rs55797226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5155 0.5684 0.5194 0.6867 0.4640 0.4095 0.5159 0.4576 hom 8488.86 250 14 105413223 . A G 8488.86 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1577;MQ=53.27;MQ0=2;QD=33.96;VQSLOD=3.3482;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8451,698,0 14 105414238 105414238 C A exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.G7250T:p.G2417V,AHNAK2:NM_138420:exon7:c.G7550T:p.G2517V 0.48 0.58 0.38 0.32 0.51 0.55 0.5029 0.5976 0.3180 0.3557 0.3940 0.5378 0.5089 0.5557 0.55 0.61 0.53 0.52 . rs60754080 . . . . . . . . . . . . . 0.701 0.042 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.495 0.001 N 4.45 0.022 T 3.71 0.001 N 0.07 0.058 -1.055 0.131 T 0.000 0.000 T . . . -0.474 0.057 0.254 0.063 0.000 0.000 0.004 N c -1.746 -1.664 0.000 0.055 0.732 0.924 0 0.322 0.151 -0.192 0.095 -0.383 0.065 0.000 0.063 0.000 0.016 4.520 0.113 . ENSG00000140104.9 Brain_Cortex 0.4925 0.6038 0.3289 0.6040 0.3585 0.3988 0.5372 0.5189 0.5562 0.5087 0.6014 0.3949 0.66 0.3492 0.4045 0.5051 0.4331 hom 7666.96 250 14 105414238 . C A 7666.96 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9606;MQ=39.73;MQ0=5;QD=30.67;VQSLOD=2.1903;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7664,686,0 14 105414280 105414280 T G exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.A7208C:p.E2403A,AHNAK2:NM_138420:exon7:c.A7508C:p.E2503A 0.84 0.98 0.87 0.63 0.84 0.86 0.8428 0.9560 0.8407 0.6377 0.7824 0.8567 0.8441 0.8521 0.9 0.96 0.87 0.72 . rs2819429 . . . . . . . . . . . . . 0.058 0.377 T 0.4 0.330 B 0.168 0.335 B . . . 1 0.090 P 2.24 0.636 M 5.62 0.008 T -2.2 0.495 N 0.083 0.077 -0.977 0.356 T 0.000 0.000 T . . . -0.080 0.086 1.882 0.956 0.268 0.059 0.117 N c -0.802 -0.979 0.000 0.052 0.732 0.924 0 -1.15 0.092 -0.228 0.090 0.810 0.333 0.000 0.063 0.002 0.062 2.055 0.033 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000183484.7 Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.8413 0.9585 0.8440 0.8873 0.6423 0.7829 0.8592 0.8531 0.8526 0.8665 0.9575 0.8474 0.88 0.6585 0.7870 0.8589 0.8218 hom 7616.46 250 14 105414280 . T G 7616.46 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.710;DP=250;DS;Dels=0.00;FS=3.123;HRun=0;HaplotypeScore=6.6198;MQ=51.72;MQ0=1;MQRankSum=0.043;QD=30.47;ReadPosRankSum=-0.866;VQSLOD=2.1953;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,248:250:99:7538,640,0 14 105414629 105414629 G A exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.C6859T:p.P2287S,AHNAK2:NM_138420:exon7:c.C7159T:p.P2387S 0.53 0.57 0.51 0.4 0.53 0.63 0.5415 0.5941 0.4820 0.4329 0.4020 0.5532 0.5436 0.6176 0.56 0.61 0.54 0.53 . rs72702027 COSM3765738 1(liver);1(thyroid) . . . . . . . . . . . 0.029 0.457 D 0.833 0.442 P 0.708 0.526 P . . . 1 0.186 P 2.395 0.694 M 4.0 0.033 T -3.19 0.646 D 0.092 0.091 -1.006 0.282 T 0.000 0.000 T . . . 2.982 0.419 22.2 0.997 0.779 0.106 0.159 N c -0.288 -0.559 0.000 0.058 0.707 0.730 0 0.756 0.175 1.199 0.316 0.799 0.323 0.008 0.178 0.002 0.062 16.357 0.830 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex|Skin_Sun_Exposed_Lower_leg 0.5310 0.5875 0.4791 0.6521 0.4259 0.4055 0.5476 0.5524 0.6069 0.5160 0.5833 0.5168 0.6939 0.4351 0.4117 0.5114 0.4487 hom 8316.96 250 14 105414629 . G A 8316.96 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5445;MQ=59.06;MQ0=0;QD=33.27;VQSLOD=6.8035;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8316,671,0 14 105414790 105414790 A G exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.T6698C:p.L2233P,AHNAK2:NM_138420:exon7:c.T6998C:p.L2333P 0.56 0.65 0.54 0.43 0.53 0.63 0.5512 0.6624 0.5161 0.4510 0.4023 0.5520 0.5457 0.6188 0.58 0.67 0.55 0.55 . rs2582513 . . . . . . . . . . . . . 0.469 0.085 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.88 0.000 N 6.88 0.005 T 6.08 0.000 N 0.054 0.036 -0.971 0.370 T 0.000 0.000 T . . . -1.049 0.030 0.013 0.074 0.000 0.002 0.009 N c -1.654 -1.507 0.000 0.056 0.707 0.730 0 1.84 0.242 -0.288 0.083 -0.551 0.047 0.000 0.063 0.014 0.122 4.436 0.109 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex|Skin_Sun_Exposed_Lower_leg 0.5453 0.6669 0.5183 0.6301 0.4510 0.4060 0.5506 0.5678 0.6179 0.5458 0.6630 0.5578 0.6733 0.4639 0.4127 0.5213 0.4565 hom 8934.69 250 14 105414790 . A G 8934.69 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.316;DP=250;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.3063;MQ=58.24;MQ0=0;MQRankSum=1.649;QD=35.74;ReadPosRankSum=1.690;VQSLOD=6.4895;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8900,686,0 14 105414810 105414810 C G exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.G6678C:p.L2226L,AHNAK2:NM_138420:exon7:c.G6978C:p.L2326L 0.53 0.54 0.53 0.43 0.53 0.63 0.5435 0.5832 0.5126 0.4497 0.4022 0.5506 0.5391 0.6180 0.56 0.6 0.54 0.53 . rs10145032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5381 0.5831 0.5137 0.6231 0.4472 0.4060 0.5494 0.5604 0.6169 0.5173 0.5772 0.5493 0.6735 0.4479 0.4117 0.5149 0.4528 hom 8580.40 250 14 105414810 . C G 8580.40 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3773;MQ=58.37;MQ0=0;QD=34.32;VQSLOD=5.2632;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8579,704,0 14 105415200 105415200 G C exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.C6288G:p.L2096L,AHNAK2:NM_138420:exon7:c.C6588G:p.L2196L 0.29 0.15 0.32 0.14 0.49 0.41 0.4018 0.1381 0.2377 0.0784 0.3708 0.5035 0.4473 0.4407 0.37 0.14 0.48 0.043 . rs10145566 COSM4147883 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3978 0.1267 0.2455 0.5876 0.0784 0.3765 0.5014 0.4538 0.4439 0.3692 0.1862 0.3298 0.6383 0.1275 0.3912 0.4686 0.3658 hom 5517.93 196 14 105415200 . G C 5517.93 Mask AC=2;AF=1.00;AN=2;DP=196;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7431;MQ=44.90;MQ0=13;QD=28.15;VQSLOD=2.3367;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,196:196:99:5517,439,0 14 105415745 105415745 C G exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.G5743C:p.A1915P,AHNAK2:NM_138420:exon7:c.G6043C:p.A2015P 0.28 0.073 0.36 0.081 0.55 0.42 0.4482 0.1326 0.2757 0.0706 0.4326 0.5631 0.4989 0.4938 0.42 0.15 0.55 0.076 . rs117379881 COSM4147890 1(thyroid) . . . . . . . . . . . 0.302 0.144 T 0.999 0.764 D 0.953 0.676 D . . . 1 0.090 P 1.39 0.351 L 5.55 0.009 T -1.63 0.391 N 0.069 0.056 -1.038 0.178 T 0.000 0.000 T . . . 1.488 0.241 13.25 0.765 0.111 0.006 0.025 N c -0.640 -0.979 0.006 0.112 0.707 0.730 0 -5.67 0.022 -2.177 0.013 -0.666 0.040 0.000 0.063 0.000 0.016 7.274 0.253 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000185567.6|ENSG00000140104.9|ENSG00000258701.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4474 0.1284 0.2900 0.6515 0.0728 0.4397 0.5627 0.5073 0.4995 0.3537 0.1172 0.3316 0.6763 0.0801 0.4393 0.5076 0.3860 hom 7654.55 250 14 105415745 . C G 7654.55 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6203;MQ=48.92;MQ0=5;QD=30.62;VQSLOD=3.1722;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,248:250:99:7653,626,0 14 105415748 105415748 G A exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.C5740T:p.P1914S,AHNAK2:NM_138420:exon7:c.C6040T:p.P2014S 0.3 0.14 0.36 0.09 0.54 0.44 0.4598 0.1992 0.2908 0.0814 0.4332 0.5649 0.5090 0.5137 0.44 0.21 0.55 0.11 . rs118171013 COSM3773688 1(kidney);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.0 0.013 B . . . 1 0.186 P -2.505 0.001 N 3.73 0.040 T 1.78 0.005 N 0.029 0.010 -0.890 0.490 T 0.000 0.000 T . . . -2.596 0.003 0.001 0.309 0.017 0.002 0.011 N c -2.472 -2.421 0.505 0.210 0.707 0.730 0 -7.44 0.012 -4.848 0.002 -0.526 0.049 0.000 0.063 0.000 0.016 1.455 0.022 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000185567.6|ENSG00000140104.9|ENSG00000140104.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.4614 0.1963 0.3098 0.6545 0.0843 0.4405 0.5665 0.5239 0.5235 0.3851 0.1924 0.3479 0.6812 0.0909 0.4415 0.5177 0.4106 hom 7573.11 250 14 105415748 . G A 7573.11 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.45;MQ0=4;QD=30.29;VQSLOD=4.2765;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7572,647,0 14 105416010 105416010 T C exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.A5478G:p.T1826T,AHNAK2:NM_138420:exon7:c.A5778G:p.T1926T 0.58 0.71 0.48 0.4 0.6 0.67 0.5890 0.7076 0.4027 0.4218 0.4725 0.6159 0.5995 0.6705 0.64 0.72 0.61 0.47 . rs2582511 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5776 0.7136 0.4063 0.7139 0.4211 0.4767 0.6137 0.6160 0.6718 0.6048 0.7187 0.4858 0.7621 0.4326 0.4858 0.5957 0.5112 hom 8082.68 250 14 105416010 . T C 8082.68 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4055;MQ=59.25;MQ0=0;QD=32.33;VQSLOD=8.3232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8081,677,0 14 105416220 105416220 T A exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.A5268T:p.E1756D,AHNAK2:NM_138420:exon7:c.A5568T:p.E1856D 0.72 0.73 0.66 0.61 0.79 0.8 0.7621 0.7521 0.5739 0.6048 0.7155 0.8099 0.7721 0.8040 0.86 0.95 0.82 0.65 . rs2819435 COSM3765739 1(pancreas);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B . . . 1 0.090 P -0.9 0.013 N 6.69 0.005 T 1.45 0.008 N 0.032 0.012 -0.837 0.529 T 0.000 0.000 T . . . -3.501 0.000 0.001 0.096 0.001 0.002 0.010 N c -3.102 -3.177 1.0 0.983 0.672 0.522 0 -8.02 0.010 -20.000 0.000 -7.697 0.000 0.000 0.063 0.000 0.016 0.662 0.008 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000183484.7 Artery_Aorta|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg 0.7576 0.7523 0.5896 0.8248 0.6150 0.7184 0.8158 0.7871 0.8072 0.7681 0.7387 0.6555 0.8511 0.6443 0.7238 0.8162 0.7478 hom 7728.31 249 14 105416220 . T A 7728.31 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0988;MQ=51.25;MQ0=5;QD=31.04;VQSLOD=2.6052;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,227:249:99:7619,644,0 14 105416649 105416649 G A exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.C4839T:p.A1613A,AHNAK2:NM_138420:exon7:c.C5139T:p.A1713A 0.28 0.053 0.37 0.085 0.54 0.44 0.4494 0.1155 0.2886 0.0752 0.4418 0.5608 0.4977 0.5002 0.41 0.13 0.54 0.18 . rs28593209 COSM1368631 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4478 0.1120 0.2963 0.6300 0.0764 0.4486 0.5581 0.5045 0.5073 0.3836 0.1171 0.3599 0.6815 0.0944 0.4591 0.5382 0.4224 hom 8272.96 248 14 105416649 . G A 8272.96 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5668;MQ=50.68;MQ0=3;QD=33.36;VQSLOD=3.0488;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8272,674,0 14 105416685 105416685 C G exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.G4803C:p.L1601L,AHNAK2:NM_138420:exon7:c.G5103C:p.L1701L 0.0022 0.0038 . 0.001 . 0.0051 0.6347 0.7289 0.4276 0.4168 0.5664 0.6763 0.6583 0.6912 0.69 0.73 0.67 0.59 . rs2582506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6264 0.7396 0.4405 0.7747 0.4168 0.5684 0.6738 0.6683 0.6942 0.6551 0.7400 0.5362 0.7842 0.4072 0.5670 0.6630 0.6009 hom 8349.32 250 14 105416685 . C G 8349.32 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0191;MQ=50.26;MQ0=3;QD=33.40;VQSLOD=2.3555;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8348,674,0 14 105417102 105417102 T C exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.A4386G:p.P1462P,AHNAK2:NM_138420:exon7:c.A4686G:p.P1562P 0.56 0.62 0.49 0.37 0.6 0.67 0.5793 0.6368 0.3989 0.3816 0.4725 0.6135 0.5975 0.6753 0.61 0.63 0.6 0.23 . rs2248966 COSM4147893 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5695 0.6391 0.4044 0.6963 0.3786 0.4793 0.6132 0.6088 0.6764 0.5734 0.6362 0.4811 0.7465 0.3760 0.4870 0.5844 0.5101 hom 6812.59 250 14 105417102 . T C 6812.59 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1797;MQ=48.09;MQ0=4;QD=27.25;VQSLOD=2.3689;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:6810,559,0 14 105417103 105417103 G A exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.C4385T:p.P1462L,AHNAK2:NM_138420:exon7:c.C4685T:p.P1562L 0.28 0.072 0.37 0.088 0.54 0.43 0.4499 0.1297 0.2858 0.0783 0.4378 0.5625 0.5045 0.4960 0.42 0.15 0.54 . . rs61996045 COSM4147894 2(thyroid) . . . . . . . . . . . 0.007 0.599 D 0.94 0.508 P 0.66 0.510 P . . . 1 0.200 P 2.86 0.833 M 4.12 0.029 T -4.07 0.746 D 0.171 0.207 -1.036 0.186 T 0.000 0.000 T . . . -0.093 0.085 1.781 0.983 0.394 0.141 0.180 N c -0.482 -0.688 0.000 0.070 0.672 0.522 0 2.86 0.323 5.517 0.666 0.815 0.334 0.990 0.367 0.004 0.083 3.467 0.071 . ENSG00000140104.9|ENSG00000185567.6 Brain_Cortex|Esophagus_Muscularis 0.4482 0.1263 0.2943 0.6493 0.0796 0.4438 0.5609 0.5093 0.5011 0.3742 0.1256 0.3618 0.6937 0.0938 0.4565 0.5290 0.4067 hom 6796.51 250 14 105417103 . G A 6796.51 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1797;MQ=47.82;MQ0=4;QD=27.19;VQSLOD=2.3937;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:6794,562,0 14 105418391 105418391 C T exonic AHNAK2 nonsynonymous SNV AHNAK2:NM_001350929:exon7:c.G3097A:p.V1033I,AHNAK2:NM_138420:exon7:c.G3397A:p.V1133I . . . . . . 0.4752 0.3447 0.3050 0.3247 0.3907 0.5317 0.4944 0.5540 0.49 0.39 0.53 0.32 . rs11625007 COSM1368639 1(lung);1(thyroid);2(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.017 0.163 B 0.006 0.112 B . . . 1 0.090 P 0.24 0.097 N 5.67 0.008 T 0.13 0.055 N 0.031 0.012 -0.983 0.343 T 0.000 0.000 T . . . -2.001 0.008 0.001 0.567 0.055 0.002 0.012 N c -2.225 -2.291 0.130 0.171 0.707 0.730 0 -7.74 0.011 -5.245 0.002 -5.016 0.000 0.000 0.063 0.000 0.016 4.085 0.093 . ENSG00000140104.9|ENSG00000140104.9|ENSG00000140104.9|ENSG00000166428.8|ENSG00000140104.9 Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.4786 0.3529 0.3152 0.6091 0.3353 0.4022 0.5398 0.5202 0.5832 0.4449 0.3688 0.3798 0.6554 0.3487 0.4091 0.5079 0.4224 hom 8266.85 250 14 105418391 . C T 8266.85 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5521;MQ=53.61;MQ0=1;QD=33.07;VQSLOD=3.6970;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8265,683,0 14 105420927 105420927 A G exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.T561C:p.P187P,AHNAK2:NM_138420:exon7:c.T861C:p.P287P 0.31 0.34 0.3 0.075 0.47 0.39 0.4083 0.3623 0.2426 0.0749 0.3690 0.4789 0.4388 0.4534 0.43 0.35 0.46 0.3 . rs879210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3938 0.3569 0.2424 0.5034 0.0743 0.3585 0.4751 0.4348 0.4478 0.3862 0.3491 0.3026 0.5430 0.0884 0.3687 0.4482 0.3454 hom 865.45 27 14 105420927 . A G 865.45 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.05;VQSLOD=9.4918;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:898,69,0 14 105421050 105421050 T G exonic AHNAK2 synonymous SNV AHNAK2:NM_001350929:exon7:c.A438C:p.P146P,AHNAK2:NM_138420:exon7:c.A738C:p.P246P 0.31 0.32 0.3 0.075 0.46 0.39 0.4050 0.3365 0.2393 0.0743 0.3641 0.4779 0.4343 0.4549 0.42 0.33 0.46 0.3 . rs879209 COSM4147920 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3914 0.3276 0.2409 0.5017 0.0742 0.3584 0.4744 0.4337 0.4478 0.3772 0.3199 0.2971 0.5430 0.0873 0.3689 0.4473 0.3422 hom 609.56 17 14 105421050 . T G 609.56 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=35.86;VQSLOD=9.5633;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:51.16:643,51,0 14 105461067 105461067 C T exonic C14orf79 synonymous SNV C14orf79:NM_174891:exon5:c.C949T:p.L317L 0.74 0.83 0.78 0.57 0.82 0.71 0.7831 0.8265 0.7468 0.5415 0.7992 0.8197 0.7918 0.7535 0.81 0.82 0.81 0.8 0.85 rs894039 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7819 0.8255 0.7570 0.8382 0.5450 0.8039 0.8177 0.7887 0.7536 0.7874 0.8213 0.7416 0.8510 0.5489 0.8054 0.7919 0.7654 hom 4352.87 156 14 105461067 . C T 4352.87 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;QD=27.90;VQSLOD=8.1562;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4352,328,0 14 105478102 105478102 G A exonic CDCA4 synonymous SNV CDCA4:NM_017955:exon2:c.C165T:p.N55N,CDCA4:NM_145701:exon2:c.C165T:p.N55N 0.42 0.21 0.53 0.31 0.65 0.51 0.5848 0.2800 0.5491 0.2821 0.6140 0.6725 0.6233 0.5901 0.54 0.29 0.67 0.38 0.72 rs3803294 COSM4147921 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5874 0.2698 0.5408 0.6981 0.2920 0.6150 0.6721 0.6130 0.5952 0.5148 0.2755 0.5358 0.7053 0.3053 0.6269 0.6434 0.5509 hom 4684.43 150 14 105478102 . G A 4684.43 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3470;MQ=59.12;MQ0=0;QD=31.23;VQSLOD=8.2953;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4684,382,0 14 105609335 105609335 A G exonic JAG2 synonymous SNV JAG2:NM_145159:exon25:c.T3300C:p.I1100I,JAG2:NM_002226:exon26:c.T3414C:p.I1138I 0.69 0.89 0.66 0.53 0.66 0.63 0.6666 0.8558 0.5924 0.5632 0.6619 0.6660 0.6623 0.6741 0.73 0.85 0.68 0.65 0.54 rs10149229 COSM3753839 2(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6575 0.8563 0.6059 0.6384 0.5529 0.6528 0.6634 0.6529 0.6713 0.7073 0.8554 0.6575 0.6060 0.5561 0.6552 0.6584 0.6456 het 498.80 50 14 105609335 . A G 498.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.590;DP=50;Dels=0.00;FS=3.997;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=-0.811;QD=9.98;ReadPosRankSum=-1.730;VQSLOD=5.2287;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,22:50:99:529,0,671 14 105611282 105611282 A G exonic JAG2 synonymous SNV JAG2:NM_145159:exon23:c.T2955C:p.A985A,JAG2:NM_002226:exon24:c.T3069C:p.A1023A 0.68 0.89 0.65 0.5 0.66 0.61 0.6664 0.8532 0.6031 0.5543 0.6780 0.6649 0.6749 0.6577 0.72 0.84 0.66 0.77 0.43 rs2272591 COSM3753840 2(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6466 0.8541 0.6013 0.6254 0.5314 0.6440 0.6540 0.6403 0.6494 0.7012 0.8517 0.6492 0.5927 0.5397 0.6528 0.6512 0.6434 het 263.44 22 14 105611282 . A G 263.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.182;DP=22;Dels=0.00;FS=1.565;HRun=1;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;MQRankSum=1.116;QD=11.97;ReadPosRankSum=0.131;VQSLOD=4.3886;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,11:22:99:293,0,332 14 105916420 105916420 C T exonic MTA1 synonymous SNV MTA1:NM_001203258:exon5:c.C267T:p.N89N,MTA1:NM_004689:exon5:c.C267T:p.N89N 0.98 0.92 1. 1. 1. 1. 0.9924 0.9207 0.9951 1 1 0.9995 0.9956 1 0.97 0.92 1. 0.95 0.89 rs4983409 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9938 0.9180 0.9943 1 1 1 0.9995 0.9962 0.9999 0.9764 0.9179 0.9952 1 1 1 0.9995 0.9959 hom 3090.17 105 14 105916420 . C T 3090.17 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5657;MQ=58.76;MQ0=0;QD=29.43;VQSLOD=8.8018;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3123,253,0 14 105930406 105930406 G A exonic MTA1 nonsynonymous SNV MTA1:NM_001203258:exon13:c.G1114A:p.V372I,MTA1:NM_004689:exon13:c.G1114A:p.V372I 0.28 0.012 0.33 0.62 0.24 0.32 0.2756 0.0518 0.4517 0.6562 0.2448 0.2337 0.2472 0.2733 0.17 0.053 0.23 0.12 0.21 rs4983413 COSM147860 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(skin);1(large_intestine) . . . . . . . . . . . 0.205 0.200 T 0.164 0.311 B 0.036 0.261 B 0.021 0.269 N 0.146 0.588 P 0 0.065 N 1.52 0.309 T -0.38 0.144 N 0.019 0.373 -0.976 0.360 T 0.000 0.000 T . . . 1.926 0.292 15.75 0.987 0.449 0.815 0.406 D c -0.409 -0.319 0.993 0.330 0.672 0.522 0 1.66 0.230 1.899 0.392 0.953 0.551 0.959 0.333 0.769 0.327 7.062 0.242 . ENSG00000184887.9 Thyroid 0.2825 0.0476 0.4341 0.1580 0.6541 0.2488 0.2353 0.2541 0.2652 0.2104 0.0486 0.3890 0.1788 0.6743 0.2438 0.2348 0.25 hom 4019.44 129 14 105930406 . G A 4019.44 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5757;MQ=58.83;MQ0=0;QD=31.16;VQSLOD=9.4155;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4019,319,0 14 105935824 105935824 G A exonic MTA1 nonsynonymous SNV MTA1:NM_004689:exon19:c.G1834A:p.A612T 0.85 0.47 0.97 1. 1. 1. 0.9589 0.5530 0.9799 0.9999 1 0.9987 0.9732 0.9996 0.85 0.56 1. 0.79 0.9 rs13707 COSM4147936;COSM4147937 1(thyroid) . . . . . . . . . . . 1.0 0.042 T 0.0 0.026 B 0.0 0.013 B 0.016 0.282 N 1.000 0.229 P 0 0.065 N 0.94 0.437 T 1.22 0.023 N 0.26 0.317 -1.028 0.210 T 0.000 0.000 T . . . 1.014 0.191 10.74 0.898 0.185 0.098 0.153 N c -0.827 -0.741 1.000 0.432 0.646 0.442 0 0.854 0.181 0.914 0.280 -0.129 0.111 1.000 0.715 0.996 0.625 1.905 0.030 . ENSG00000257270.1 Thyroid 0.9672 0.5455 0.9760 0.9982 1 0.9998 0.9985 0.9801 0.9993 0.8749 0.5616 0.9702 1 1 1 0.9985 0.9857 hom 1988.80 69 14 105935824 . G A 1988.80 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.82;VQSLOD=13.7756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2022,162,0 15 22846932 22846932 G A exonic TUBGCP5 synonymous SNV TUBGCP5:NM_001102610:exon8:c.G807A:p.Q269Q,TUBGCP5:NM_052903:exon8:c.G807A:p.Q269Q . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.001 -0.009 0.002 0.093 0.563 0.310 0 -1.58 0.080 0.411 0.207 0.052 0.162 0.997 0.399 0.996 0.625 5.827 0.177 . . . . . . . . . . . . . . . . . . . . het 1409.05 124 15 22846932 . G A 1409.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.291;DP=124;Dels=0.00;FS=0.785;HRun=1;HaplotypeScore=2.7502;MQ=59.70;MQ0=0;MQRankSum=-0.902;QD=11.36;ReadPosRankSum=0.496;VQSLOD=5.9453;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,57:124:99:1439,0,1804 15 22853786 22853786 C T exonic TUBGCP5 nonsynonymous SNV TUBGCP5:NM_001102610:exon12:c.C1424T:p.T475M,TUBGCP5:NM_052903:exon12:c.C1424T:p.T475M . . . . . . 0.0003 0.0002 0 0 0.0002 0.0006 0 0 0.0003 0.0002 0.0003 . . rs139868545 COSM5764374 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0003 0.0002 2.979e-05 0 0 8.972e-05 0.0006 0.0002 0 0.0002 0 0 0 0 0 0.0003 0.0020 het 162.76 40 15 22853786 . C T 162.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.130;DP=40;Dels=0.00;FS=3.223;HRun=0;HaplotypeScore=0.6651;MQ=59.42;MQ0=0;MQRankSum=0.939;QD=4.07;ReadPosRankSum=-0.648;VQSLOD=2.4292;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,9:40:99:193,0,882 15 22853808 22853808 C T exonic TUBGCP5 synonymous SNV TUBGCP5:NM_001102610:exon12:c.C1446T:p.H482H,TUBGCP5:NM_052903:exon12:c.C1446T:p.H482H 0.009 0.0008 0.01 . 0.013 0.025 0.0184 0.0039 0.0091 0.0002 0.0108 0.0207 0.0218 0.0379 0.015 0.003 0.021 . 0.0082 rs142094970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0171 0.0036 0.0079 0.0214 0.0001 0.0098 0.0204 0.0223 0.0346 0.0130 0.0046 0.0060 0.02 0 0.0132 0.0193 0.0153 het 819.86 45 15 22853808 . C T 819.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.550;DP=45;Dels=0.00;FS=7.397;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=0.360;QD=18.22;ReadPosRankSum=1.852;VQSLOD=3.7207;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,32:45:99:850,0,324 15 22864369 22864369 G A exonic TUBGCP5 nonsynonymous SNV TUBGCP5:NM_001102610:exon16:c.G2327A:p.R776H,TUBGCP5:NM_052903:exon16:c.G2327A:p.R776H . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c 0.429 0.370 0.909 0.263 0.707 0.730 0 3.11 0.347 3.973 0.563 0.892 0.403 1.000 0.715 0.601 0.289 9.999 0.409 . . . . . . . . . . . . . . . . . . . . het 799.78 89 15 22864369 . G A 799.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.695;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;MQRankSum=1.134;QD=8.99;ReadPosRankSum=-0.505;VQSLOD=4.9096;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,33:89:99:830,0,1519 15 22925851 22925851 C T exonic CYFIP1 synonymous SNV CYFIP1:NM_001324119:exon2:c.C171T:p.P57P,CYFIP1:NM_001324120:exon2:c.C69T:p.P23P,CYFIP1:NM_001324123:exon2:c.C69T:p.P23P,CYFIP1:NM_001324124:exon2:c.C69T:p.P23P,CYFIP1:NM_001324126:exon2:c.C69T:p.P23P,CYFIP1:NM_014608:exon2:c.C69T:p.P23P,CYFIP1:NM_001287810:exon3:c.C69T:p.P23P 0.18 0.34 0.14 0.003 0.22 0.11 0.1920 0.3274 0.0858 0.0006 0.2459 0.2230 0.1914 0.1353 0.25 0.33 0.21 0.3 0.19 rs4134802 COSM3754243 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1839 0.3327 0.0975 0.2015 0.0007 0.2308 0.2194 0.1944 0.1375 0.2369 0.3428 0.1181 0.2152 0 0.2273 0.2112 0.2235 het 989.13 75 15 22925851 . C T 989.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.602;DP=75;Dels=0.00;FS=8.838;HRun=0;HaplotypeScore=1.9545;MQ=59.69;MQ0=0;MQRankSum=-0.388;QD=13.19;ReadPosRankSum=0.080;VQSLOD=4.0515;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,34:75:99:1019,0,1152 15 22939192 22939192 G A exonic CYFIP1 synonymous SNV CYFIP1:NM_001324125:exon7:c.G552A:p.P184P,CYFIP1:NM_001324124:exon9:c.G828A:p.P276P,CYFIP1:NM_001324126:exon9:c.G816A:p.P272P,CYFIP1:NM_001324119:exon10:c.G1020A:p.P340P,CYFIP1:NM_001324120:exon10:c.G918A:p.P306P,CYFIP1:NM_001324123:exon10:c.G918A:p.P306P,CYFIP1:NM_014608:exon10:c.G918A:p.P306P,CYFIP1:NM_001287810:exon11:c.G918A:p.P306P 0.33 0.35 0.47 0.11 0.51 0.25 0.4371 0.3455 0.5189 0.1120 0.4985 0.5111 0.4615 0.2826 0.45 0.35 0.5 0.36 0.33 rs11633474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4406 0.3429 0.5144 0.4245 0.1151 0.5006 0.5138 0.4679 0.2820 0.4351 0.3561 0.5012 0.4205 0.1258 0.5006 0.4934 0.4754 hom 7611.19 250 15 22939192 . G A 7611.19 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5796;MQ=59.32;MQ0=0;QD=30.44;VQSLOD=7.3888;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7610,605,0 15 23052632 23052632 T C exonic NIPA1 synonymous SNV NIPA1:NM_001142275:exon4:c.A216G:p.T72T,NIPA1:NM_144599:exon4:c.A441G:p.T147T 0.7 0.45 0.81 0.8 0.72 0.86 0.7359 0.4952 0.8774 0.8141 0.6329 0.7221 0.7335 0.8447 0.65 0.49 0.74 0.64 0.77 rs11263683 COSM3999473 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) other|Benign not_specified|Spastic_Paraplegia\x2c_Dominant RCV000117820.3|RCV000298408.1 MedGen|MedGen CN169374|CN239430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7449 0.4870 0.8662 0.7943 0.8185 0.6405 0.7212 0.7469 0.8449 0.6458 0.4874 0.8449 0.8179 0.8313 0.6503 0.6993 0.6910 hom 6966.31 221 15 23052632 . T C 6966.31 Mask AC=2;AF=1.00;AN=2;DP=221;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2646;MQ=58.83;MQ0=0;QD=31.52;VQSLOD=8.8612;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:6965,590,0 15 24921649 24921649 T C exonic NPAP1 nonsynonymous SNV NPAP1:NM_018958:exon1:c.T635C:p.V212A 0.11 0.07 0.15 0.15 0.075 0.11 0.0996 0.0740 0.1790 0.1467 0.0895 0.0853 0.0933 0.0968 0.075 0.067 0.079 0.065 0.074 rs3784246 COSM1372086 1(large_intestine) . . . . . . . . . . . 0.017 0.512 D 0.979 0.571 D 0.725 0.532 P . . . 1 0.090 P 1.15 0.294 L 2.72 0.120 T -2.0 0.461 N 0.082 0.075 -1.025 0.222 T 0.000 0.002 T . . . -0.800 0.040 0.043 0.931 0.221 0.032 0.082 N c -0.579 -0.834 0.006 0.111 0.487 0.133 0 0.509 0.161 -0.482 0.066 -0.669 0.040 0.000 0.063 0.004 0.083 4.53 0.113 . . . 0.1006 0.0726 0.1728 0.1048 0.1460 0.0889 0.0782 0.0955 0.0996 0.0801 0.0718 0.1325 0.0927 0.1442 0.0960 0.0698 0.0988 het 680.96 49 15 24921649 . T C 680.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.186;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;MQRankSum=1.763;QD=13.90;ReadPosRankSum=-0.093;VQSLOD=6.6760;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,25:49:99:711,0,631 15 24922230 24922230 C G exonic NPAP1 nonsynonymous SNV NPAP1:NM_018958:exon1:c.C1216G:p.Q406E 0.53 0.89 0.35 0.47 0.36 0.39 0.3993 0.7979 0.3554 0.4947 0.4113 0.3337 0.4150 0.3886 0.49 0.79 0.33 0.53 0.3 rs3742950 COSM3754247 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.035 0.018 N 1 0.090 P -0.55 0.024 N 3.51 0.050 T 0.11 0.057 N 0.019 0.004 -1.014 0.255 T 0.000 0.000 T . . . -1.209 0.025 0.006 0.106 0.001 0.000 0.001 N c -1.665 -1.674 0.007 0.113 0.554 0.283 0 -0.437 0.116 -0.695 0.052 -1.210 0.016 0.000 0.063 0.000 0.016 9.397 0.374 . . . 0.3910 0.8069 0.3604 0.3334 0.4921 0.4018 0.3330 0.3678 0.3857 0.4741 0.7914 0.3218 0.2967 0.4931 0.4135 0.3194 0.3893 hom 4824.90 149 15 24922230 . C G 4824.90 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5661;MQ=59.69;MQ0=0;QD=32.38;VQSLOD=8.6467;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4824,373,0 15 24923390 24923390 C T exonic NPAP1 synonymous SNV NPAP1:NM_018958:exon1:c.C2376T:p.F792F 0.43 0.54 0.34 0.47 0.35 0.39 0.3736 0.5230 0.3411 0.4969 0.4114 0.3327 0.3943 0.3871 0.39 0.51 0.33 0.36 0.26 rs60574723 COSM3999481 1(NS);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3701 0.5203 0.3453 0.3296 0.4921 0.4017 0.3322 0.3536 0.3846 0.3922 0.5033 0.3046 0.2914 0.4963 0.4135 0.3191 0.3801 hom 6908.41 214 15 24923390 . C T 6908.41 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.716;DP=214;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.0287;MQ=58.98;MQ0=0;MQRankSum=-1.344;QD=32.28;ReadPosRankSum=1.489;VQSLOD=8.2482;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,213:214:99:6908,554,0 15 25924539 25924539 T C exonic ATP10A synonymous SNV ATP10A:NM_024490:exon21:c.A4449G:p.Q1483Q 0.27 0.42 0.34 0.27 0.14 0.14 0.1977 0.3838 0.3625 0.2891 0.1245 0.1453 0.2162 0.1538 0.23 0.37 0.16 0.26 0.11 rs1047700 COSM5765223 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2014 0.3850 0.3553 0.2072 0.2893 0.1214 0.1456 0.2058 0.1496 0.2249 0.3814 0.3313 0.1954 0.2979 0.1339 0.1463 0.1599 het 2084.94 191 15 25924539 . T C 2084.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.152;DP=191;Dels=0.00;FS=1.239;HRun=3;HaplotypeScore=1.8660;MQ=58.85;MQ0=0;MQRankSum=1.226;QD=10.92;ReadPosRankSum=-0.449;VQSLOD=6.5480;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,87:191:99:2115,0,2606 15 25926179 25926179 C T exonic ATP10A nonsynonymous SNV ATP10A:NM_024490:exon18:c.G3535A:p.A1179T 0.28 0.47 0.35 0.26 0.14 0.14 0.2016 0.4253 0.3679 0.2668 0.1466 0.1489 0.2192 0.1446 0.25 0.42 0.16 0.4 0.13 rs2076744 COSM1372118 9(soft_tissue);2(large_intestine) . . . . . . . . . . . 0.067 0.359 T 0.644 0.386 P 0.095 0.287 B 0.055 0.226 N 1.000 0.189 P 1.445 0.365 L 0.94 0.437 T -0.19 0.100 N 0.08 0.101 -0.912 0.466 T 0.000 0.000 T . . . 1.172 0.207 11.60 0.947 0.247 0.094 0.150 N c -1.102 -1.129 0.921 0.266 0.615 0.372 0 0.298 0.149 0.695 0.250 -1.082 0.019 0.160 0.236 0.046 0.161 1.590 0.025 P-type ATPase\x2c C-terminal ENSG00000206190.7 Testis 0.2069 0.4325 0.3607 0.2018 0.2688 0.1437 0.1493 0.2111 0.1480 0.2405 0.4247 0.3425 0.1921 0.2745 0.1561 0.1495 0.1701 het 1303.41 113 15 25926179 . C T 1303.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.926;DP=113;Dels=0.00;FS=0.727;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=-0.565;QD=11.53;ReadPosRankSum=1.385;VQSLOD=6.1164;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,55:113:99:1333,0,1394 15 25926186 25926186 G A exonic ATP10A synonymous SNV ATP10A:NM_024490:exon18:c.C3528T:p.A1176A 0.68 0.81 0.71 0.61 0.61 0.61 0.6345 0.7999 0.7076 0.6423 0.6467 0.6011 0.6509 0.6042 0.68 0.8 0.62 0.76 0.63 rs2076743 COSM3754248 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6339 0.8033 0.6984 0.5179 0.6378 0.6382 0.6085 0.6278 0.6042 0.6699 0.8075 0.6909 0.5397 0.6503 0.6380 0.6031 0.6367 het 1426.42 106 15 25926186 . G A 1426.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.836;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=-0.535;QD=13.46;ReadPosRankSum=0.144;VQSLOD=6.1155;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,54:106:99:1456,0,1337 15 25961964 25961964 A G exonic ATP10A synonymous SNV ATP10A:NM_024490:exon9:c.T1689C:p.P563P 0.99 0.97 1. 1. 1. 1. 0.9979 0.9793 0.9981 1 1 0.9998 0.9978 0.9999 0.99 0.98 1. 0.98 1. rs10873607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9791 0.9980 1 1 1 0.9998 0.9983 0.9999 0.9947 0.9816 0.9976 1 1 1 0.9999 0.9990 hom 6130.66 186 15 25961964 . A G 6130.66 Mask AC=2;AF=1.00;AN=2;DP=186;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.3248;MQ=59.51;MQ0=0;QD=32.96;VQSLOD=8.5045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:6130,493,0 15 27193125 27193125 A G exonic GABRA5 synonymous SNV GABRA5:NM_000810:exon11:c.A1134G:p.T378T,GABRA5:NM_001165037:exon11:c.A1134G:p.T378T 0.012 . 0.017 . 0.046 0.0031 0.0493 0.0102 0.0496 0.0012 0.0731 0.0774 0.0385 0.0033 0.022 0.0064 0.029 0.022 . rs2229942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0244 0.0043 0.0163 0.0485 0.0003 0.0417 0.0336 0.0272 0.0025 0.0258 0.0055 0.0155 0.0695 0 0.0378 0.0369 0.0305 het 74.03 18 15 27193125 . A G 74.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.774;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.71;MQ0=0;MQRankSum=0.394;QD=4.11;ReadPosRankSum=0.000;VQSLOD=4.7969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:104,0,301 15 27772676 27772676 C T exonic GABRG3 synonymous SNV GABRG3:NM_033223:exon8:c.C963T:p.T321T 0.52 0.3 0.68 0.66 0.55 0.51 0.5373 0.3192 0.7090 0.6703 0.4955 0.5256 0.5222 0.5424 0.46 0.31 0.54 0.47 . rs140679 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5500 0.3163 0.7020 0.5975 0.6650 0.5044 0.5263 0.5398 0.5417 0.4748 0.3247 0.6730 0.6093 0.6675 0.4989 0.5190 0.5194 het 1089.57 102 15 27772676 . C T 1089.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.942;DP=102;Dels=0.00;FS=5.359;HRun=0;HaplotypeScore=1.7128;MQ=59.59;MQ0=0;MQRankSum=-0.875;QD=10.68;ReadPosRankSum=0.470;VQSLOD=5.5490;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,44:102:99:1120,0,1519 15 28096538 28096538 A G exonic OCA2 synonymous SNV OCA2:NM_001300984:exon21:c.T2256C:p.A752A,OCA2:NM_000275:exon22:c.T2328C:p.A776A 0.5 0.63 0.37 0.44 0.44 0.56 0.4493 0.6302 0.3575 0.4416 0.3662 0.4221 0.4642 0.5412 0.5 0.63 0.43 0.52 0.34 rs1800419 COSM1749086 1(large_intestine);1(biliary_tract);1(thyroid);2(urinary_tract) Benign|Benign not_specified|Oculocutaneous_albinism RCV000176255.2|RCV000305128.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0078918:ORPHA55:63844009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4341 0.6248 0.3647 0.4819 0.4383 0.3343 0.4158 0.4490 0.5317 0.4573 0.6261 0.3699 0.4868 0.4495 0.3297 0.3983 0.3914 het 471.18 25 15 28096538 . A G 471.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.362;DP=25;Dels=0.00;FS=1.721;HRun=1;HaplotypeScore=0.0000;MQ=56.95;MQ0=0;MQRankSum=0.454;QD=18.85;ReadPosRankSum=-1.422;VQSLOD=2.3123;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,18:25:99:501,0,148 15 28197024 28197024 G A exonic OCA2 synonymous SNV OCA2:NM_001300984:exon17:c.C1785T:p.D595D,OCA2:NM_000275:exon18:c.C1857T:p.D619D 0.0004 0.0008 . . 0.001 . 0.0006 0.0010 0 0.0001 0 0.0008 0 0.0003 0.0008 0.0014 0.0006 . . rs7164127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0011 8.933e-05 0 5.798e-05 8.969e-05 0.0008 0 0.0002 0.0010 0.0018 0 0 0.0012 0 0.0008 0 het 920.86 59 15 28197024 . G A 920.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.892;DP=59;Dels=0.00;FS=1.192;HRun=0;HaplotypeScore=0.9989;MQ=59.29;MQ0=0;MQRankSum=-0.095;QD=15.61;ReadPosRankSum=-1.176;VQSLOD=6.3782;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,36:59:99:951,0,598 15 28211921 28211921 G A exonic OCA2 synonymous SNV OCA2:NM_001300984:exon14:c.C1479T:p.C493C,OCA2:NM_000275:exon15:c.C1551T:p.C517C 0.36 0.24 0.47 0.16 0.68 0.35 0.5638 0.2824 0.3794 0.1422 0.7543 0.7201 0.6175 0.3754 0.57 0.3 0.71 0.35 0.74 rs1800411 COSM4417339;COSM4417338 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Oculocutaneous_albinism RCV000248067.2|RCV000333850.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0078918:ORPHA55:63844009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5568 0.2722 0.3802 0.5969 0.1452 0.7434 0.7186 0.6085 0.3779 0.5602 0.2766 0.4101 0.5960 0.1627 0.7469 0.7254 0.6619 het 446.67 44 15 28211921 . G A 446.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.284;DP=44;Dels=0.00;FS=1.407;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=-1.066;QD=10.15;ReadPosRankSum=0.237;VQSLOD=6.1028;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,19:44:99:477,0,782 15 28235773 28235773 C T exonic OCA2 synonymous SNV OCA2:NM_000275:exon10:c.G1065A:p.A355A 0.41 0.13 0.58 0.39 0.79 0.31 0.6367 0.2086 0.5248 0.3865 0.8397 0.7984 0.7113 0.3757 0.6 0.23 0.79 0.35 0.77 rs1800404 . . Benign|Benign not_specified|Oculocutaneous_albinism RCV000243007.2|RCV000402284.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0078918:ORPHA55:63844009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6403 0.2006 0.5353 0.7056 0.3820 0.8281 0.7984 0.7027 0.3781 0.6048 0.2083 0.5588 0.7119 0.3939 0.8363 0.7966 0.7264 hom 8204.07 241 15 28235773 . C T 8204.07 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4499;MQ=59.55;MQ0=0;QD=34.04;VQSLOD=5.6918;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,240:241:99:8203,650,0 15 28386626 28386626 C T exonic HERC2 synonymous SNV HERC2:NM_004667:exon78:c.G11967A:p.Q3989Q 0.086 0.015 0.091 . 0.32 0.022 0.2542 0.0664 0.0579 0.0002 0.4979 0.3832 0.2269 0.0263 0.28 0.078 0.38 0.11 0.3 rs11636232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2507 0.0618 0.0692 0.1735 0.0002 0.4996 0.3893 0.2421 0.0262 0.2934 0.0661 0.0995 0.1821 0 0.5049 0.4157 0.3832 hom 3712.01 110 15 28386626 . C T 3712.01 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8332;MQ=58.90;MQ0=0;QD=33.75;VQSLOD=8.9165;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3712,301,0 15 28414665 28414665 T C exonic HERC2 synonymous SNV HERC2:NM_004667:exon66:c.A10194G:p.S3398S 0.88 0.71 0.97 0.98 0.98 0.83 0.9524 0.7746 0.9809 0.9861 0.9991 0.9895 0.9593 0.8577 0.92 0.78 0.99 0.84 1. rs7494786 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9582 0.7747 0.9791 0.9687 0.9871 0.9991 0.9910 0.9614 0.8574 0.9316 0.7761 0.9725 0.9636 0.9895 0.9994 0.9941 0.9755 hom 2014.17 67 15 28414665 . T C 2014.17 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.47;MQ0=2;QD=30.06;VQSLOD=6.9379;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2047,165,0 15 28502279 28502279 A G exonic HERC2 synonymous SNV HERC2:NM_004667:exon17:c.T2445C:p.G815G 0.44 0.21 0.62 0.3 0.79 0.42 0.6876 0.2960 0.5811 0.2674 0.9705 0.8583 0.6998 0.4263 0.67 0.31 0.85 0.4 0.8 rs11631797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6942 0.2936 0.5862 0.7728 0.2711 0.9699 0.8579 0.7193 0.4301 0.6865 0.2970 0.6127 0.7781 0.2889 0.9628 0.8841 0.8218 hom 3468.57 117 15 28502279 . A G 3468.57 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.39;MQ0=3;QD=29.65;VQSLOD=6.4186;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3468,286,0 15 29346242 29346242 G A exonic APBA2 nonsynonymous SNV APBA2:NM_001130414:exon3:c.G155A:p.R52Q,APBA2:NM_005503:exon3:c.G155A:p.R52Q 0.005 0.0008 0.0029 . 0.018 0.0041 0.0144 0.0043 0.0066 0.0001 0.0179 0.0203 0.0134 0.0087 0.013 0.0034 0.018 0.011 . rs117098828 . . . . . . . . . . . . . 0.042 0.416 D 0.007 0.131 B 0.004 0.093 B 0.035 0.247 N 1 0.090 N 2.175 0.612 M 0.86 0.468 T -0.19 0.617 N 0.072 0.156 -0.977 0.356 T 0.056 0.237 T . . . 1.384 0.230 12.71 0.991 0.526 0.503 0.284 D c -0.626 -0.614 0.252 0.187 0.706 0.609 0 2.21 0.269 1.237 0.321 0.108 0.203 0.028 0.201 0.005 0.090 2.239 0.037 . . . 0.0137 0.0043 0.0075 0.0087 5.799e-05 0.0172 0.0201 0.0139 0.0084 0.0119 0.0036 0.0072 0.0066 0 0.0172 0.0174 0.0071 het 1077.42 107 15 29346242 . G A 1077.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.858;DP=107;Dels=0.00;FS=2.850;HRun=0;HaplotypeScore=4.5596;MQ=59.08;MQ0=0;MQRankSum=-0.747;QD=10.07;ReadPosRankSum=1.706;VQSLOD=4.0803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,43:107:99:1107,0,1705 15 30008856 30008856 C A exonic TJP1 synonymous SNV TJP1:NM_175610:exon22:c.G3921T:p.A1307A,TJP1:NM_001301026:exon23:c.G3933T:p.A1311A,TJP1:NM_001330239:exon23:c.G4161T:p.A1387A,TJP1:NM_003257:exon23:c.G4161T:p.A1387A,TJP1:NM_001301025:exon24:c.G4362T:p.A1454A 1. 0.99 1. 1. 1. 1. 0.9997 0.9962 1 1 1 1 1 1 1. 1. 1. 0.99 0.9 rs7166878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9966 0.9999 1 1 1 1 1 1 0.9985 0.9945 1 1 1 1 1 1 hom 2068.89 69 15 30008856 . C A 2068.89 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.94;MQ0=0;QD=29.98;VQSLOD=7.9455;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2102,169,0 15 30008889 30008889 G A exonic TJP1 synonymous SNV TJP1:NM_175610:exon22:c.C3888T:p.A1296A,TJP1:NM_001301026:exon23:c.C3900T:p.A1300A,TJP1:NM_001330239:exon23:c.C4128T:p.A1376A,TJP1:NM_003257:exon23:c.C4128T:p.A1376A,TJP1:NM_001301025:exon24:c.C4329T:p.A1443A 0.79 0.64 0.82 0.86 0.82 0.84 0.8285 0.6846 0.8488 0.8577 0.8558 0.8400 0.8167 0.8273 0.79 0.7 0.84 0.77 0.76 rs2229518 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8306 0.6806 0.8539 0.8128 0.8561 0.8547 0.8388 0.8240 0.8250 0.7994 0.6848 0.8505 0.7947 0.8694 0.8643 0.8368 0.8564 hom 2377.13 79 15 30008889 . G A 2377.13 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3108;MQ=57.90;MQ0=0;QD=30.09;VQSLOD=7.8511;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2410,196,0 15 30025358 30025358 G C exonic TJP1 nonsynonymous SNV TJP1:NM_001330239:exon13:c.C1676G:p.A559G,TJP1:NM_003257:exon13:c.C1676G:p.A559G,TJP1:NM_175610:exon13:c.C1676G:p.A559G,TJP1:NM_001301025:exon14:c.C1877G:p.A626G,TJP1:NM_001301026:exon14:c.C1688G:p.A563G 0.0002 . . . 0.001 . 0.0001 0.0001 8.639e-05 0 0 0.0002 0 0 0.0003 0.0005 0.0002 0.011 . rs201315605 . . . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 1 0.810 D 3.18 0.890 M 3.83 0.037 T -3.47 0.678 D 0.811 0.815 -1.081 0.072 T 0.067 0.274 T 0.026 0.495 D 5.953 0.818 27.7 0.998 0.907 0.994 0.958 D c 0.992 0.944 1.0 0.983 0.707 0.730 0 5.54 0.828 10.003 0.997 1.048 0.713 1.000 0.715 0.980 0.490 19.834 0.966 SH3 domain|Variant SH3 domain . . 0.0002 0 0.0002 0 0 0 0.0004 0.0002 0 0.0003 0.0003 0 0 0 0 0.0004 0 het 656.54 82 15 30025358 . G C 656.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.464;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;MQRankSum=-0.326;QD=8.01;ReadPosRankSum=-0.661;VQSLOD=5.1244;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,27:82:99:687,0,1422 15 30665281 30665282 CA - exonic CHRFAM7A frameshift deletion CHRFAM7A:NM_139320:exon6:c.227_228del:p.L76Qfs*40 0.39 0.082 0.44 0.66 0.38 0.48 0.4024 0.1407 0.5396 0.6789 0.3618 0.3703 0.4224 0.4737 0.35 0.19 0.42 . 0.21 rs201490160 COSM5445838 1(thyroid);1(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4018 0.1258 0.5245 0.3511 0.6732 0.3629 0.3570 0.4105 0.4585 0.3120 0.1310 0.4889 0.3821 0.6587 0.3743 0.3546 0.3852 het 797.68 34 15 30665280 . TCA T 797.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.287;DP=34;DS;FS=1.317;HRun=0;HaplotypeScore=115.1815;MQ=9.49;MQ0=192;MQRankSum=0.052;QD=3.19;ReadPosRankSum=-0.542;set=variant2 GT:AD:DP:GQ:PL 0/1:128,122:34:99:837,0,750 15 31197564 31197564 G A exonic FAN1 nonsynonymous SNV FAN1:NM_001146094:exon2:c.G698A:p.G233E,FAN1:NM_001146095:exon2:c.G698A:p.G233E,FAN1:NM_001146096:exon2:c.G698A:p.G233E,FAN1:NM_014967:exon2:c.G698A:p.G233E 0.42 0.04 0.45 0.77 0.44 0.55 0.4594 0.1079 0.5869 0.8049 0.4655 0.4316 0.4945 0.5173 0.32 0.11 0.43 0.52 0.4 rs4779794 COSM3734136;COSM3734135 2(pancreas);1(thyroid) Benign not_specified RCV000247214.1 MedGen CN169374 . . . . . . 0.791 0.032 T 0.146 0.335 B 0.026 0.307 B 0.789 0.067 N 1 0.090 P 2.045 0.562 M 1.01 0.411 T -0.07 0.110 N 0.011 0.058 -0.903 0.477 T 0.000 0.000 T . . . -1.462 0.018 0.003 0.393 0.027 0.019 0.057 N c -1.162 -1.253 1.000 0.410 0.660 0.490 0 -2.16 0.066 -0.298 0.082 -0.285 0.084 0.000 0.063 0.002 0.062 6.106 0.192 . ENSG00000260382.1|ENSG00000261628.1|ENSG00000270015.1|ENSG00000270015.1|ENSG00000261628.1|ENSG00000270015.1|ENSG00000270015.1|ENSG00000270015.1|ENSG00000260382.1|ENSG00000259845.1|ENSG00000261628.1|ENSG00000187951.6|ENSG00000270015.1|ENSG00000260382.1|ENSG00000166912.12|ENSG00000270015.1|ENSG00000259845.1|ENSG00000261628.1|ENSG00000260382.1|ENSG00000261628.1|ENSG00000178115.10|ENSG00000270015.1|ENSG00000178115.10|ENSG00000260382.1|ENSG00000198690.5|ENSG00000259845.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4696 0.0986 0.5723 0.4705 0.8039 0.4660 0.4276 0.4650 0.5108 0.3667 0.1055 0.5456 0.54 0.8103 0.4811 0.4257 0.4481 hom 1838.86 61 15 31197564 . G A 1838.86 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.4942;MQ=58.93;MQ0=0;QD=30.15;VQSLOD=9.2299;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1872,150,0 15 31229420 31229420 T C exonic FAN1 synonymous SNV FAN1:NM_014967:exon14:c.T3015C:p.H1005H 0.46 0.11 0.47 0.83 0.45 0.55 0.4755 0.1692 0.5928 0.8515 0.4696 0.4436 0.5099 0.5187 0.35 0.17 0.44 0.56 0.42 rs2955795 . . Benign not_specified RCV000241636.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4855 0.1634 0.5803 0.4866 0.8500 0.4717 0.4401 0.4819 0.5128 0.3958 0.1658 0.5585 0.5563 0.8583 0.4911 0.4408 0.4611 hom 4207.88 142 15 31229420 . T C 4207.88 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.49;MQ0=0;QD=29.63;VQSLOD=8.8559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4207,346,0 15 31330280 31330280 A G exonic TRPM1 synonymous SNV TRPM1:NM_001252020:exon18:c.T2457C:p.N819N,TRPM1:NM_002420:exon18:c.T2340C:p.N780N,TRPM1:NM_001252024:exon19:c.T2406C:p.N802N 0.76 0.57 0.87 0.95 0.85 0.64 0.8104 0.6252 0.8905 0.9696 0.8501 0.8367 0.8233 0.6580 0.77 0.64 0.83 0.78 0.81 rs2288242 COSM4148623 1(thyroid) Benign Congenital_Stationary_Night_Blindness\x2c_Recessive RCV000262060.1 MedGen CN239273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8184 0.6287 0.8826 0.8323 0.9721 0.8495 0.8367 0.8168 0.6634 0.7914 0.6349 0.8553 0.8133 0.9735 0.8494 0.8442 0.8055 hom 2462.88 84 15 31330280 . A G 2462.88 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.78;MQ0=0;QD=29.32;VQSLOD=8.6221;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2496,199,0 15 31342744 31342744 C T exonic TRPM1 synonymous SNV TRPM1:NM_001252020:exon11:c.G1356A:p.T452T,TRPM1:NM_002420:exon11:c.G1239A:p.T413T,TRPM1:NM_001252024:exon12:c.G1305A:p.T435T 0.52 0.16 0.62 0.94 0.52 0.5 0.5419 0.2309 0.6091 0.9606 0.5496 0.5396 0.5569 0.4663 0.44 0.23 0.54 0.47 0.53 rs1035705 . . Benign|Benign not_specified|Congenital_Stationary_Night_Blindness\x2c_Recessive RCV000174066.1|RCV000311948.1 MedGen|MedGen CN169374|CN239273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5528 0.2274 0.5999 0.5576 0.9625 0.5419 0.5444 0.5554 0.4693 0.4895 0.2318 0.5728 0.5795 0.9679 0.5395 0.5657 0.5462 hom 2143.73 66 15 31342744 . C T 2143.73 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.65;MQ0=0;QD=32.48;VQSLOD=9.5791;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2177,172,0 15 31362352 31362352 C T exonic TRPM1 nonsynonymous SNV TRPM1:NM_001252020:exon3:c.G212A:p.S71N,TRPM1:NM_001252030:exon3:c.G95A:p.S32N,TRPM1:NM_002420:exon3:c.G95A:p.S32N,TRPM1:NM_001252024:exon4:c.G161A:p.S54N 0.79 0.74 0.89 0.93 0.81 0.63 0.7991 0.7493 0.9183 0.9471 0.7812 0.8071 0.7867 0.6429 0.79 0.75 0.81 0.8 0.69 rs2241493 . . Benign|Benign not_specified|Congenital_Stationary_Night_Blindness\x2c_Recessive RCV000177154.1|RCV000337949.1 MedGen|MedGen CN169374|CN239273 . . . . . . 0.506 0.147 T 0.0 0.026 B 0.001 0.040 B 0.685 0.061 N 1 0.090 P -0.97 0.012 N 0.12 0.611 T 0.4 0.108 N 0.002 0.000 -0.996 0.311 T 0.000 0.000 T . . . -0.537 0.053 0.178 0.743 0.103 0.025 0.070 N c -1.562 -1.457 0.571 0.215 0.554 0.283 0 -1.73 0.076 -0.642 0.055 -1.458 0.011 0.000 0.063 0.001 0.043 9.958 0.407 . . . 0.8054 0.7536 0.9115 0.8073 0.9481 0.7846 0.8076 0.7947 0.6435 0.8005 0.7473 0.8890 0.7748 0.9494 0.7773 0.8176 0.7790 het 3019.36 249 15 31362352 . C T 3019.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.845;DP=249;DS;Dels=0.00;FS=6.076;HRun=3;HaplotypeScore=9.0314;MQ=59.32;MQ0=1;MQRankSum=-1.079;QD=12.13;ReadPosRankSum=0.394;VQSLOD=3.9092;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,111:249:99:3049,0,4035 15 31369123 31369123 A G exonic TRPM1 startloss TRPM1:NM_001252020:exon2:c.T119C:p.M40T,TRPM1:NM_001252030:exon2:c.T2C:p.K2_M71del,TRPM1:NM_002420:exon2:c.T2C:p.K2_M71del,TRPM1:NM_001252024:exon3:c.T68C:p.M23T 0.89 0.91 0.89 0.98 0.8 0.88 0.8446 0.8979 0.9221 0.9815 0.8116 0.8044 0.8378 0.8634 0.83 0.89 0.8 0.85 0.85 rs4779816 . . Benign Congenital_Stationary_Night_Blindness\x2c_Recessive RCV000350290.1 MedGen CN239273 . . . . . . 0.068 0.682 T 0.0 0.026 B 0.0 0.013 B 0.038 0.244 N 0 0.810 P . . . 0.82 0.546 T 1.35 0.085 N 0.031 0.012 -0.935 0.434 T 0.000 0.000 T . . . -0.795 0.040 0.044 0.872 0.165 0.014 0.047 N c -1.018 -0.976 0.863 0.252 0.560 0.301 0 2.41 0.285 -0.046 0.118 0.076 0.183 0.022 0.197 0.776 0.329 1.530 0.024 . . . 0.8474 0.9019 0.9122 0.8519 0.9836 0.8114 0.8021 0.8451 0.8629 0.8538 0.9048 0.8854 0.8775 0.9871 0.8057 0.8194 0.8422 hom 3567.99 124 15 31369123 . A G 3567.99 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;QD=28.77;VQSLOD=8.8495;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3567,283,0 15 33091079 33091079 A G exonic FMN1 synonymous SNV FMN1:NM_001103184:exon15:c.T3387C:p.F1129F,FMN1:NM_001277313:exon19:c.T4056C:p.F1352F 0.16 0.2 0.13 0.1 0.17 0.19 0.1466 0.2055 0.1004 0.1149 0.1365 0.1425 0.1574 0.1808 0.16 0.19 0.14 0.13 . rs7162695 COSM3999501;COSM3999500 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1399 0.1959 0.1009 0.1674 0.1111 0.1313 0.1393 0.1426 0.1702 0.1502 0.2001 0.1403 0.1589 0.1270 0.1332 0.1295 0.1291 het 736.05 57 15 33091079 . A G 736.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.280;DP=57;Dels=0.00;FS=3.657;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;MQRankSum=-0.615;QD=12.91;ReadPosRankSum=0.822;VQSLOD=6.2892;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,29:57:99:766,0,750 15 33357262 33357262 A G exonic FMN1 nonsynonymous SNV FMN1:NM_001103184:exon2:c.T1388C:p.L463P,FMN1:NM_001277313:exon6:c.T2057C:p.L686P 0.45 0.43 0.56 0.21 0.56 0.52 0.5306 0.4507 0.5301 0.2230 0.5416 0.5771 0.5402 0.5461 0.54 0.46 0.57 0.43 . rs2306277 COSM3999502;COSM147870 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N . . . -2.74 0.000 N 1.49 0.374 T 5.96 0.000 N 0.091 0.174 -0.950 0.410 T 0.000 0.000 T . . . 0.974 0.187 10.51 0.759 0.109 0.068 0.127 N c -0.675 -0.391 1.000 0.747 0.516 0.203 0 5.13 0.696 6.673 0.741 0.138 0.222 1.000 0.715 0.961 0.442 13.146 0.587 . ENSG00000248905.4|ENSG00000248905.4 Esophagus_Mucosa|Thyroid 0.5281 0.4494 0.5321 0.6698 0.2164 0.5401 0.5661 0.5505 0.5400 0.5028 0.4543 0.5382 0.6126 0.2141 0.5430 0.5474 0.5195 het 1841.58 129 15 33357262 . A G 1841.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.986;DP=129;DS;Dels=0.00;FS=2.153;HRun=2;HaplotypeScore=4.4829;MQ=59.30;MQ0=0;MQRankSum=0.804;QD=14.28;ReadPosRankSum=-0.441;VQSLOD=5.8403;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,62:129:99:1872,0,2010 15 33359370 33359370 C T exonic FMN1 nonsynonymous SNV FMN1:NM_001103184:exon1:c.G716A:p.G239E 0.26 0.19 0.43 0.15 0.36 0.25 0.3280 0.2068 0.4296 0.1570 0.3752 0.3584 0.3307 0.2759 0.3 0.19 0.35 0.33 . rs11072170 COSM147871 1(stomach);1(large_intestine) . . . . . . . . . . . 0.086 0.326 T 0.009 0.139 B 0.005 0.104 B . . . . . . . . . 1.35 0.394 T -0.2 0.102 N 0.043 0.041 -0.907 0.472 T 0.000 0.000 T . . . -0.234 0.073 0.930 0.304 0.017 0.117 0.166 N c -1.070 -1.123 1.000 0.407 0.560 0.301 0 0.42 0.156 -0.322 0.080 0.070 0.177 0.000 0.063 0.010 0.111 6.681 0.222 . ENSG00000248905.4|ENSG00000248905.4|ENSG00000248905.4|ENSG00000248905.4 Esophagus_Mucosa|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3332 0.2010 0.4240 0.4018 0.1509 0.3704 0.3528 0.3470 0.2792 0.2993 0.1948 0.3990 0.3411 0.1561 0.3698 0.3498 0.3411 het 2002.87 169 15 33359370 . C T 2002.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.459;DP=169;Dels=0.00;FS=2.743;HRun=0;HaplotypeScore=3.9300;MQ=59.07;MQ0=0;MQRankSum=1.456;QD=11.78;ReadPosRankSum=-0.272;VQSLOD=5.9002;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,80:169:99:2033,0,2170 15 33359574 33359574 C A exonic FMN1 nonsynonymous SNV FMN1:NM_001103184:exon1:c.G512T:p.G171V 0.72 0.59 0.78 0.83 0.65 0.84 0.6954 0.5977 0.8231 0.8379 0.6587 0.6469 0.6860 0.8011 0.63 0.6 0.65 0.65 . rs11858145 . . . . . . . . . . . . . 1.0 0.027 T 0.0 0.026 B 0.0 0.013 B . . . . . . . . . 1.31 0.396 T 1.35 0.009 N 0.047 0.028 -0.964 0.385 T 0.000 0.000 T . . . -0.357 0.064 0.491 0.638 0.071 0.017 0.053 N c -1.244 -1.254 1.000 0.747 0.560 0.301 0 1.03 0.191 -0.736 0.049 0.186 0.247 0.000 0.063 0.003 0.074 5.755 0.173 . ENSG00000248905.4 Thyroid 0.7006 0.5977 0.8199 0.7368 0.8335 0.6579 0.6377 0.6872 0.7966 0.6417 0.5945 0.7859 0.7086 0.8342 0.6705 0.6308 0.6650 het 797.72 78 15 33359574 . C A 797.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.266;DP=78;Dels=0.00;FS=6.504;HRun=1;HaplotypeScore=2.7122;MQ=59.22;MQ0=0;MQRankSum=0.716;QD=10.23;ReadPosRankSum=0.990;VQSLOD=5.0339;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,32:78:99:828,0,1285 15 33872177 33872177 C T exonic RYR3 synonymous SNV RYR3:NM_001036:exon13:c.C1269T:p.S423S,RYR3:NM_001243996:exon13:c.C1269T:p.S423S 0.6 0.4 0.76 0.54 0.77 0.66 0.7143 0.4714 0.8014 0.5276 0.6926 0.7583 0.7191 0.7254 0.68 0.49 0.78 0.51 . rs674155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7210 0.4677 0.8012 0.7852 0.5257 0.6839 0.7618 0.7504 0.7274 0.6585 0.4828 0.8082 0.7682 0.5262 0.6848 0.7535 0.7300 het 1250.87 121 15 33872177 . C T 1250.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.276;DP=121;Dels=0.00;FS=2.620;HRun=0;HaplotypeScore=1.8910;MQ=58.77;MQ0=0;MQRankSum=-2.041;QD=10.34;ReadPosRankSum=1.358;VQSLOD=4.6760;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,54:121:99:1281,0,1723 15 33916053 33916053 G C exonic RYR3 synonymous SNV RYR3:NM_001036:exon20:c.G2403C:p.L801L,RYR3:NM_001243996:exon20:c.G2403C:p.L801L 0.083 0.031 0.18 0.037 0.13 0.082 0.1168 0.0451 0.1772 0.0414 0.0854 0.1337 0.13 0.1001 0.1 0.044 0.13 0.065 . rs2229117 COSM3754263 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1187 0.0429 0.1783 0.0961 0.0407 0.0901 0.1364 0.1254 0.0974 0.0962 0.0473 0.1651 0.1225 0.0543 0.0890 0.1261 0.1043 het 1772.43 148 15 33916053 . G C 1772.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.376;DP=148;Dels=0.00;FS=0.640;HRun=2;HaplotypeScore=1.8899;MQ=58.72;MQ0=0;MQRankSum=0.602;QD=11.98;ReadPosRankSum=-0.006;VQSLOD=6.2729;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,68:148:99:1802,0,2168 15 33954652 33954652 C T exonic RYR3 nonsynonymous SNV RYR3:NM_001036:exon35:c.C4921T:p.R1641C,RYR3:NM_001243996:exon35:c.C4921T:p.R1641C 0.84 0.56 0.92 0.92 0.96 0.94 0.9339 0.6297 0.9590 0.9282 0.9834 0.9662 0.9543 0.9473 0.87 0.67 0.96 0.83 . rs4780144 . . . . . . . . . . . . . 0.05 0.395 D 0.656 0.615 P 0.049 0.484 B 0.229 0.160 N 0.004 0.428 P 1.61 0.413 L -0.74 0.732 T -1.3 0.326 N 0.058 0.041 -1.004 0.288 T 0.000 0.000 T . . . 1.518 0.245 13.41 0.995 0.689 0.603 0.309 D c -0.528 -0.572 0.002 0.093 0.487 0.133 0 0.853 0.181 -0.228 0.090 -0.349 0.070 0.002 0.151 0.889 0.374 5.527 0.161 . . . 0.9390 0.6250 0.9572 0.9320 0.9296 0.9827 0.9682 0.9292 0.9466 0.8767 0.6459 0.9296 0.9205 0.9118 0.9811 0.9737 0.9531 hom 3353.06 95 15 33954652 . C T 3353.06 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;QD=35.30;VQSLOD=9.7481;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3353,262,0 15 34016274 34016274 G A exonic RYR3 nonsynonymous SNV RYR3:NM_001036:exon45:c.G6809A:p.G2270E,RYR3:NM_001243996:exon45:c.G6809A:p.G2270E 0.88 0.83 0.93 0.99 0.84 0.86 0.8625 0.8492 0.9306 0.9814 0.8187 0.8467 0.8536 0.8417 0.85 0.86 0.85 0.79 . rs6495228 . . . . . . . . . . . . . 0.436 0.094 T 0.0 0.026 B 0.0 0.013 B 0.654 0.105 N 1 0.090 P 1.155 0.297 L -3.97 0.962 D 1.13 0.012 N 0.032 0.012 -0.943 0.421 T 0.000 0.000 T . . . 0.929 0.183 10.25 0.686 0.084 0.027 0.073 N c -0.956 -0.814 1.000 0.517 0.487 0.133 0 5.39 0.775 3.613 0.536 0.244 0.267 1.000 0.715 0.004 0.083 11.182 0.477 . . . 0.8647 0.8535 0.9240 0.8473 0.9815 0.8149 0.8496 0.8490 0.8391 0.8586 0.8498 0.9248 0.82 0.9741 0.8173 0.8573 0.8686 hom 2152.25 72 15 34016274 . G A 2152.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.683;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;MQRankSum=1.391;QD=29.89;ReadPosRankSum=-1.391;VQSLOD=8.4722;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,71:72:99:2185,175,0 15 34113010 34113010 C T exonic RYR3 synonymous SNV RYR3:NM_001243996:exon77:c.C10797T:p.F3599F,RYR3:NM_001036:exon78:c.C10812T:p.F3604F 0.37 0.3 0.37 0.3 0.52 0.4 0.5171 0.3774 0.5281 0.3817 0.4767 0.5723 0.4875 0.4436 0.45 0.31 0.52 0.39 . rs2288613 COSM433726 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4670 0.3338 0.4461 0.5565 0.3175 0.4276 0.5276 0.4580 0.4175 0.4443 0.3358 0.4718 0.5833 0.3211 0.4209 0.5189 0.4509 hom 684.34 21 15 34113010 . C T 684.34 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.59;VQSLOD=13.8548;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.15:717,57,0 15 34528948 34528948 G A exonic SLC12A6 synonymous SNV SLC12A6:NM_001042497:exon21:c.C2958T:p.L986L,SLC12A6:NM_005135:exon22:c.C2850T:p.L950L,SLC12A6:NM_133647:exon22:c.C3003T:p.L1001L,SLC12A6:NM_001042494:exon23:c.C2826T:p.L942L,SLC12A6:NM_001042495:exon23:c.C2826T:p.L942L,SLC12A6:NM_001042496:exon23:c.C2976T:p.L992L 0.57 0.38 0.66 0.67 0.66 0.58 0.6510 0.4346 0.6957 0.6805 0.7132 0.6778 0.6553 0.6071 0.6 0.43 0.68 0.69 0.67 rs4577050 COSM3754265;COSM3754264;COSM3754266 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign not_specified|Andermann_syndrome RCV000147486.2|RCV000265452.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0795950:218000:ORPHA1496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6592 0.4283 0.7042 0.6260 0.6751 0.7152 0.6811 0.6446 0.6089 0.6130 0.4389 0.7100 0.5993 0.6495 0.7132 0.6785 0.6639 hom 5384.12 179 15 34528948 . G A 5384.12 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;QD=30.08;VQSLOD=8.5742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5383,421,0 15 34551082 34551082 G A exonic SLC12A6 synonymous SNV SLC12A6:NM_001042497:exon3:c.C430T:p.L144L,SLC12A6:NM_005135:exon4:c.C322T:p.L108L,SLC12A6:NM_133647:exon4:c.C475T:p.L159L,SLC12A6:NM_001042494:exon5:c.C298T:p.L100L,SLC12A6:NM_001042495:exon5:c.C298T:p.L100L,SLC12A6:NM_001042496:exon5:c.C448T:p.L150L 0.28 0.2 0.22 0.35 0.24 0.38 0.2511 0.2101 0.1853 0.3385 0.1834 0.2423 0.2412 0.3406 0.23 0.22 0.24 0.17 0.23 rs7164902 COSM3754272;COSM3754271;COSM3754270 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Andermann_syndrome RCV000147488.2|RCV000271997.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0795950:218000:ORPHA1496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2469 0.2165 0.1816 0.2488 0.3400 0.1822 0.2432 0.2497 0.3403 0.2282 0.2127 0.1778 0.2583 0.3634 0.1752 0.2387 0.2057 het 2228.84 172 15 34551082 . G A 2228.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.279;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9126;MQ=59.46;MQ0=0;MQRankSum=0.267;QD=12.96;ReadPosRankSum=-0.273;VQSLOD=6.2861;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,81:172:99:2259,0,2455 15 34638198 34638198 A G exonic NUTM1 nonsynonymous SNV NUTM1:NM_001284292:exon2:c.A62G:p.Q21R 0.2 0.13 0.18 0.34 0.14 0.21 0.1500 0.1407 0.1440 0.3236 0.0957 0.1246 0.1222 0.1953 0.13 0.14 0.12 0.13 0.098 rs12595504 COSN19664404;COSN8865247;COSN164891;COSN8865246;COSN14437726 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(large_intestine);1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.182 P . . . 3.28 0.065 T -0.32 0.123 N 0.018 0.003 -0.913 0.465 T 0.000 0.000 T . . . 0.381 0.131 6.446 0.627 0.069 0.004 0.019 N c -1.817 -1.947 1.000 0.747 0.428 0.059 0 -9.83 0.004 -2.990 0.007 -1.735 0.007 0.000 0.063 0.360 0.248 5.532 0.162 Nuclear Testis protein\x2c N-terminal ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000128463.8|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000182117.4|ENSG00000140199.7|ENSG00000182117.4|ENSG00000140199.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid 0.1473 0.1431 0.1450 0.0897 0.3212 0.0987 0.1244 0.1385 0.1928 0.1280 0.1349 0.1388 0.0596 0.3403 0.0888 0.1117 0.1178 het 2524.21 189 15 34638198 . A G 2524.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.737;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8186;MQ=58.67;MQ0=0;MQRankSum=0.974;QD=13.36;ReadPosRankSum=-0.671;VQSLOD=5.2412;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,106:189:99:2554,0,2073 15 34640218 34640218 C T exonic NUTM1 nonsynonymous SNV NUTM1:NM_001284293:exon2:c.C119T:p.P40L,NUTM1:NM_001284292:exon3:c.C149T:p.P50L,NUTM1:NM_175741:exon3:c.C65T:p.P22L 0.88 0.56 0.96 1. 1. 1. 0.9635 0.6126 0.9804 0.9999 1 0.9979 0.9703 0.9995 0.87 0.62 1. 0.87 0.99 rs374230 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.917 0.074 N 1 0.090 P -1.32 0.007 N 2.95 0.097 T 1.9 0.005 N 0.024 0.088 -0.975 0.362 T 0.000 0.000 T . . . -1.578 0.015 0.002 0.568 0.055 0.001 0.004 N c -1.948 -1.901 1.000 0.489 0.615 0.372 0 -5.94 0.020 -0.115 0.106 -0.512 0.051 0.000 0.063 0.000 0.016 0.879 0.011 Nuclear Testis protein\x2c N-terminal . . 0.9712 0.6073 0.9808 0.9873 0.9999 1 0.9985 0.9792 0.9993 0.8911 0.6211 0.9666 0.9901 1 1 0.9989 0.9755 hom 6246.81 192 15 34640218 . C T 6246.81 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2346;MQ=58.77;MQ0=0;QD=32.54;VQSLOD=7.9862;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:192:99:6246,485,0 15 34640378 34640378 T C exonic NUTM1 synonymous SNV NUTM1:NM_001284293:exon2:c.T279C:p.D93D,NUTM1:NM_001284292:exon3:c.T309C:p.D103D,NUTM1:NM_175741:exon3:c.T225C:p.D75D 0.94 0.78 0.98 1. 1. 1. 0.9844 0.8322 0.9927 0.9999 1 0.9992 0.9901 0.9998 0.94 0.84 1. 0.97 0.98 rs430083 COSM4148664 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9879 0.8321 0.9925 0.9971 0.9999 1 0.9993 0.9916 0.9999 0.9537 0.8396 0.9857 1 1 1 0.9993 0.9878 hom 6805.67 228 15 34640378 . T C 6805.67 Mask AC=2;AF=1.00;AN=2;DP=228;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1464;MQ=58.86;MQ0=0;QD=29.85;VQSLOD=7.1475;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,228:228:99:6804,575,0 15 34649336 34649336 G A exonic NUTM1 nonsynonymous SNV NUTM1:NM_001284293:exon7:c.G3097A:p.E1033K,NUTM1:NM_001284292:exon8:c.G3127A:p.E1043K,NUTM1:NM_175741:exon8:c.G3043A:p.E1015K 0.0016 . 0.0029 . 0.006 . 0.0023 0.0010 0.0009 0 0.0003 0.0039 0.0011 6.061e-05 0.0027 0.0009 0.0036 . . rs149177074 COSM1235970 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.06 0.377 T 0.232 0.290 B 0.059 0.269 B 0.209 0.164 N 0.587 0.324 D 2.055 0.568 M 2.62 0.132 T -0.9 0.242 N 0.194 0.364 -1.064 0.108 T 0.028 0.118 T 0.004 0.102 T 4.126 0.554 23.8 0.996 0.768 0.844 0.432 D c -0.016 0.084 0.983 0.304 0.557 0.301 1 4.28 0.500 1.972 0.399 0.098 0.198 0.969 0.340 0.670 0.303 9.617 0.387 Nuclear Testis protein\x2c N-terminal . . 0.0021 0.0006 0.0009 0 0 0.0005 0.0041 0.0013 9.747e-05 0.0020 0.0009 0 0 0 0.0003 0.0032 0.0041 het 1083.90 82 15 34649336 . G A 1083.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.817;DP=82;Dels=0.00;FS=1.923;HRun=1;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;MQRankSum=-1.118;QD=13.22;ReadPosRankSum=1.517;VQSLOD=3.3659;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,42:82:99:1114,0,1120 15 35044757 35044757 C T exonic GJD2 synonymous SNV GJD2:NM_020660:exon2:c.G888A:p.E296E 0.038 0.0038 0.06 . 0.11 0.033 0.0836 0.0212 0.0348 0.0001 0.1393 0.1194 0.0881 0.0338 0.086 0.027 0.12 . 0.15 rs34964522 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0831 0.0203 0.0406 0.1104 0.0001 0.1350 0.1180 0.0905 0.0327 0.0876 0.0235 0.0382 0.0960 0 0.1475 0.1225 0.0961 het 1947.31 122 15 35044757 . C T 1947.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.326;DP=122;Dels=0.00;FS=2.986;HRun=1;HaplotypeScore=2.4947;MQ=59.09;MQ0=0;MQRankSum=2.525;QD=15.96;ReadPosRankSum=-0.722;VQSLOD=4.9012;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,66:122:99:1977,0,1562 15 35045057 35045057 G A exonic GJD2 synonymous SNV GJD2:NM_020660:exon2:c.C588T:p.S196S 0.31 0.29 0.32 0.26 0.29 0.4 0.3207 0.2924 0.3675 0.2518 0.2830 0.3040 0.3271 0.4243 0.31 0.31 0.31 0.34 0.32 rs3743123 COSM5427264 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3226 0.2982 0.3646 0.3419 0.2488 0.2801 0.3039 0.3283 0.4219 0.2994 0.2986 0.3469 0.3079 0.2413 0.2845 0.3069 0.2965 het 2261.14 161 15 35045057 . G A 2261.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.442;DP=161;Dels=0.00;FS=8.363;HRun=0;HaplotypeScore=5.6177;MQ=59.51;MQ0=0;MQRankSum=-0.584;QD=14.04;ReadPosRankSum=-0.225;VQSLOD=4.5744;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,84:161:99:2291,0,2204 15 35045312 35045312 T A exonic GJD2 synonymous SNV GJD2:NM_020660:exon2:c.A333T:p.T111T 0.57 0.57 0.56 0.41 0.67 0.63 0.6506 0.5820 0.5317 0.4248 0.7333 0.6982 0.6623 0.6690 0.66 0.59 0.69 0.55 0.69 rs651724 COSM5618856 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6458 0.5829 0.5394 0.6578 0.4208 0.7338 0.6968 0.6581 0.6645 0.6491 0.5872 0.5501 0.6556 0.4152 0.7275 0.6968 0.6585 hom 6142.31 185 15 35045312 . T A 6142.31 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.713;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6494;MQ=59.88;MQ0=0;MQRankSum=-1.582;QD=33.20;ReadPosRankSum=0.552;VQSLOD=7.8616;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,184:185:99:6142,481,0 15 35149008 35149008 C T exonic AQR synonymous SNV AQR:NM_014691:exon35:c.G4443A:p.P1481P 0.98 0.92 0.99 1. 1. 1. 0.9925 0.9163 0.9980 1 1 0.9999 0.9975 0.9998 0.97 0.92 1. 0.96 1. rs8035240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9936 0.9166 0.9972 1 1 1 0.9999 0.9989 0.9998 0.9753 0.9138 0.9952 1 1 1 0.9997 0.9949 hom 3617.05 118 15 35149008 . C T 3617.05 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3215;MQ=59.29;MQ0=0;QD=30.65;VQSLOD=8.3320;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3617,271,0 15 35273620 35273620 C T exonic ZNF770 synonymous SNV ZNF770:NM_014106:exon3:c.G2016A:p.Q672Q 0.47 0.88 0.46 0.38 0.27 0.22 0.3465 0.8123 0.4860 0.3439 0.2513 0.2907 0.3186 0.2213 0.46 0.79 0.28 0.58 0.32 rs4923849 COSM3754277 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3416 0.8242 0.4793 0.3079 0.3450 0.2498 0.2872 0.3342 0.2245 0.4323 0.8030 0.4605 0.3146 0.3298 0.2430 0.2804 0.3126 hom 3119.38 99 15 35273620 . C T 3119.38 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6281;MQ=59.15;MQ0=0;QD=31.51;VQSLOD=8.9833;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3152,265,0 15 36946303 36946303 C G exonic C15orf41 nonsynonymous SNV C15orf41:NM_001321758:exon2:c.C106G:p.L36V,C15orf41:NM_001130010:exon4:c.C217G:p.L73V,C15orf41:NM_001290233:exon4:c.C217G:p.L73V,C15orf41:NM_001321759:exon4:c.C217G:p.L73V,C15orf41:NM_001321760:exon4:c.C217G:p.L73V,C15orf41:NM_001321761:exon4:c.C217G:p.L73V 0.5 0.38 0.38 0.68 0.44 0.61 0.5352 0.4380 0.4901 0.6709 0.5128 0.5149 0.5383 0.6001 0.44 0.4 0.46 0.6 . rs3784678 COSM4148685 1(thyroid) Benign not_specified RCV000247174.1 MedGen CN169374 . . . . . . 0.079 0.564 T 0.879 0.464 P 0.503 0.459 P . . . 0.251 0.810 P 2.175 0.612 M 0.85 0.517 T -1.2 0.312 N 0.229 0.391 -0.913 0.465 T 0.000 0.000 T . . . 3.402 0.467 23.0 0.996 0.759 0.979 0.776 D c 0.466 0.531 1.000 0.747 0.752 0.988 0 5.5 0.813 3.699 0.543 0.935 0.490 1.000 0.715 1.000 0.888 12.854 0.571 . . . 0.4610 0.3794 0.3451 0.4384 0.6501 0.4226 0.4545 0.4316 0.5864 0.4493 0.3982 0.3663 0.4106 0.6360 0.4224 0.4685 0.4795 het 81.68 16 15 36946303 . C G 81.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.758;DP=16;Dels=0.00;FS=6.317;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.273;QD=5.10;ReadPosRankSum=0.061;VQSLOD=3.2422;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,4:16:99:112,0,299 15 38614525 38614525 G A exonic SPRED1 synonymous SNV SPRED1:NM_152594:exon3:c.G291A:p.K97K 0.8 0.65 0.84 0.8 0.9 0.87 0.8637 0.6615 0.8207 0.7906 0.9314 0.8987 0.8899 0.8897 0.83 0.69 0.9 0.85 0.72 rs7182445 COSM4148687 2(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign Legius_syndrome|not_specified RCV000034273.3|RCV000041241.8 MedGen:OMIM:Orphanet|MedGen C1969623:611431:ORPHA137605|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8664 0.6532 0.8264 0.9068 0.7893 0.9339 0.8955 0.8727 0.8911 0.8318 0.6692 0.8517 0.8709 0.7922 0.9345 0.9005 0.8939 hom 4450.33 140 15 38614525 . G A 4450.33 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.292;DP=140;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9075;MQ=59.84;MQ0=0;MQRankSum=-0.946;QD=31.79;ReadPosRankSum=-0.893;VQSLOD=9.2875;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,138:140:99:4405,304,0 15 38643574 38643574 T C exonic SPRED1 synonymous SNV SPRED1:NM_152594:exon7:c.T1044C:p.V348V 0.8 0.65 0.84 0.8 0.9 0.87 0.8637 0.6599 0.8211 0.7909 0.9314 0.8987 0.8888 0.8897 0.83 0.69 0.9 0.87 0.86 rs3751526 COSM3999508 3(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign Legius_syndrome|not_specified RCV000034272.3|RCV000041236.9 MedGen:OMIM:Orphanet|MedGen C1969623:611431:ORPHA137605|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8662 0.6513 0.8264 0.9068 0.7885 0.9340 0.8954 0.8723 0.8911 0.8315 0.6681 0.8508 0.8709 0.7924 0.9345 0.9005 0.8941 hom 4551.55 148 15 38643574 . T C 4551.55 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5657;MQ=59.69;MQ0=0;QD=30.75;VQSLOD=7.5952;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4551,352,0 15 38794566 38794566 A G exonic RASGRP1 synonymous SNV RASGRP1:NM_001128602:exon11:c.T1380C:p.F460F,RASGRP1:NM_001306086:exon11:c.T1380C:p.F460F,RASGRP1:NM_005739:exon12:c.T1485C:p.F495F 0.17 0.19 0.18 0.006 0.26 0.23 0.2234 0.2080 0.1345 0.0034 0.2257 0.2635 0.2331 0.2455 0.24 0.2 0.26 0.15 . rs12324402 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2136 0.1997 0.1381 0.2548 0.0026 0.2210 0.2581 0.2356 0.2371 0.2184 0.2026 0.1599 0.2550 0.0018 0.2195 0.2538 0.2108 het 554.07 40 15 38794566 . A G 554.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.557;DP=40;Dels=0.00;FS=1.252;HRun=0;HaplotypeScore=1.8273;MQ=59.06;MQ0=0;MQRankSum=2.298;QD=13.85;ReadPosRankSum=0.793;VQSLOD=5.5939;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,23:40:99:584,0,400 15 38988815 38988815 C G exonic C15orf53 nonsynonymous SNV C15orf53:NM_207444:exon1:c.C7G:p.L3V 0.19 0.18 0.25 0.099 0.26 0.2 0.2637 0.1975 0.2538 0.0878 0.2599 0.3070 0.2854 0.2293 0.27 0.21 0.3 0.24 0.34 rs7165988 COSM147873 1(stomach);2(prostate);1(large_intestine) . . . . . . . . . . . . . . 0.969 0.548 D 0.685 0.518 P . . . 1 0.090 P 0 0.065 N 1.09 0.392 T -2.0 0.461 N 0.046 0.026 -0.999 0.303 T 0.000 0.000 T . . . 0.299 0.123 5.686 0.871 0.164 0.035 0.085 N c -0.836 -1.015 1.000 0.517 0.497 0.185 0 -0.565 0.111 -0.656 0.054 0.118 0.209 0.000 0.063 0.000 0.016 5.899 0.181 . . . 0.2646 0.1904 0.2623 0.3167 0.0934 0.2616 0.3091 0.2853 0.2208 0.2504 0.1950 0.2590 0.28 0.0919 0.2630 0.2939 0.2796 het 1116.50 80 15 38988815 . C G 1116.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.125;DP=80;Dels=0.00;FS=0.839;HRun=1;HaplotypeScore=0.8667;MQ=59.42;MQ0=0;MQRankSum=0.555;QD=13.96;ReadPosRankSum=1.265;VQSLOD=5.8003;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,41:80:99:1146,0,1017 15 40018945 40018945 C A exonic FSIP1 nonsynonymous SNV FSIP1:NM_001324338:exon9:c.G895T:p.D299Y,FSIP1:NM_152597:exon9:c.G895T:p.D299Y . . . . . . 3.336e-05 0 0 0 0 6.055e-05 0 0 . . . . . rs765118693 . . . . . . . . . . . . . 0.006 0.614 D 0.994 0.647 D 0.808 0.567 P 0.000 0.629 D 1.000 0.090 N 2.615 0.767 M 1.65 0.276 T -3.57 0.690 D 0.597 0.623 -1.032 0.199 T 0.120 0.420 T 0.018 0.402 T 2.681 0.383 20.7 0.984 0.409 0.082 0.140 N c -0.245 -0.431 0.000 0.056 0.554 0.246 0 2.7 0.309 1.190 0.315 0.070 0.177 0.055 0.214 0.809 0.339 6.509 0.213 . . . 2.034e-05 0 0 0 0 0 4.483e-05 0 0 . . . . . . . . het 280.03 43 15 40018945 . C A 280.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.098;DP=43;Dels=0.00;FS=1.406;HRun=1;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=-0.257;QD=6.51;ReadPosRankSum=0.501;VQSLOD=3.6071;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,12:43:99:310,0,825 15 40226495 40226495 T C exonic EIF2AK4 synonymous SNV EIF2AK4:NM_001013703:exon1:c.T99C:p.I33I 0.96 0.99 0.92 1. 0.87 0.99 0.9112 0.9758 0.9378 1 0.9282 0.8653 0.9350 0.9837 0.9 0.97 0.86 0.92 0.79 rs566792 COSM3754282;COSM5828233 6(large_intestine) Benign not_specified RCV000443551.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9097 0.9770 0.9261 0.9175 1 0.9255 0.8571 0.9064 0.9821 0.9103 0.9746 0.9099 0.8907 1 0.9322 0.8596 0.8936 het 319.08 29 15 40226495 . T C 319.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.680;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=58.70;MQ0=0;MQRankSum=-1.688;QD=11.00;ReadPosRankSum=-0.767;VQSLOD=5.6296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,13:29:99:349,0,423 15 40265799 40265799 A G exonic EIF2AK4 nonsynonymous SNV EIF2AK4:NM_001013703:exon11:c.A1667G:p.E556G 0.84 0.9 0.7 0.78 0.95 0.84 0.8883 0.8961 0.6082 0.7785 0.8949 0.9545 0.9131 0.8660 0.94 0.9 0.96 0.83 0.95 rs2307105 . . Benign not_specified RCV000425189.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.350 N 0.998 0.222 P -1.79 0.003 N -0.89 0.748 T -0.05 0.253 N 0.025 0.304 -0.963 0.386 T 0.000 0.000 T . . . 2.868 0.405 21.7 0.989 0.472 0.383 0.257 N c -0.715 -0.399 1.000 0.462 0.707 0.730 0 4.97 0.653 2.533 0.451 0.100 0.199 1.000 0.715 0.986 0.517 9.406 0.374 . . . 0.8806 0.8992 0.6345 0.9729 0.7844 0.8951 0.9585 0.9084 0.8646 0.9170 0.9028 0.6758 0.9636 0.7886 0.8880 0.9586 0.9143 hom 5519.93 183 15 40265799 . A G 5519.93 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6732;MQ=58.90;MQ0=0;QD=30.16;VQSLOD=9.1085;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:5519,418,0 15 40308859 40308859 G T exonic EIF2AK4 nonsynonymous SNV EIF2AK4:NM_001013703:exon28:c.G3916T:p.G1306C 0.07 0.023 0.097 0.006 0.18 0.07 0.1306 0.0485 0.0714 0.0031 0.1542 0.1797 0.12 0.0803 0.14 0.05 0.18 0.043 0.14 rs35602605 COSM3754283 1(large_intestine) Benign not_specified RCV000427604.1 MedGen CN169374 . . . . . . 0.002 0.721 D 1.0 0.899 D 0.995 0.818 D 0.000 0.843 D 0.000 0.588 P 2.65 0.778 M 1.18 0.377 T -5.76 0.878 D 0.383 0.443 -1.223 0.000 T 0.001 0.003 T . . . 7.514 0.952 34 0.996 0.734 0.990 0.901 D c 0.859 0.841 1.000 0.747 0.732 0.924 0 5.52 0.821 7.903 0.860 0.943 0.531 1.000 0.715 0.998 0.697 19.818 0.966 . ENSG00000128829.7|ENSG00000248508.2|ENSG00000128829.7|ENSG00000128829.7|ENSG00000128829.7|ENSG00000128829.7|ENSG00000128829.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Pancreas|Skin_Sun_Exposed_Lower_leg 0.1295 0.0450 0.0790 0.1702 0.0028 0.1606 0.1794 0.1355 0.0803 0.1231 0.0479 0.0919 0.1689 0.0025 0.1543 0.1708 0.1626 het 1139.57 98 15 40308859 . G T 1139.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.277;DP=98;Dels=0.00;FS=2.660;HRun=0;HaplotypeScore=0.9789;MQ=58.74;MQ0=0;MQRankSum=1.747;QD=11.63;ReadPosRankSum=0.523;VQSLOD=5.7637;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,43:98:99:1170,0,1449 15 40313141 40313141 C T exonic EIF2AK4 synonymous SNV EIF2AK4:NM_001013703:exon31:c.C4215T:p.G1405G 0.31 0.29 0.29 0.25 0.36 0.34 0.3459 0.3402 0.2755 0.2525 0.3350 0.3646 0.37 0.3752 0.36 0.34 0.37 0.28 0.41 rs3207297 COSM3754284 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000420221.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3416 0.3388 0.2819 0.3669 0.2432 0.3306 0.3650 0.3639 0.3734 0.3523 0.3485 0.3026 0.3642 0.2460 0.3339 0.3738 0.3395 het 2368.45 167 15 40313141 . C T 2368.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.318;DP=167;Dels=0.00;FS=1.231;HRun=0;HaplotypeScore=3.3882;MQ=59.55;MQ0=0;MQRankSum=-1.246;QD=14.18;ReadPosRankSum=-0.425;VQSLOD=5.8721;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,89:167:99:2398,0,2091 15 40328665 40328665 G A exonic SRP14 synonymous SNV SRP14:NM_003134:exon5:c.C280T:p.L94L,SRP14:NM_001309434:exon6:c.C136T:p.L46L 0.46 0.3 0.47 0.27 0.71 0.6 0.6117 0.3525 0.4390 0.2622 0.6777 0.7157 0.6501 0.6221 0.61 0.38 0.72 0.43 0.79 rs8208 . . Benign not_specified RCV000455428.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6071 0.3492 0.4481 0.7020 0.2542 0.6836 0.7148 0.6391 0.6250 0.5827 0.3585 0.4833 0.7285 0.2630 0.6764 0.7240 0.6459 het 2684.62 249 15 40328665 . G A 2684.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.794;DP=249;DS;Dels=0.00;FS=11.057;HRun=1;HaplotypeScore=3.0313;MQ=58.84;MQ0=0;MQRankSum=-0.733;QD=10.78;ReadPosRankSum=-0.941;VQSLOD=3.4172;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:144,105:249:99:2715,0,4131 15 40330518 40330518 T G exonic SRP14 synonymous SNV SRP14:NM_003134:exon3:c.A175C:p.R59R 0.098 0.095 0.1 0.025 0.17 0.093 0.1377 0.1183 0.0791 0.0160 0.1241 0.1765 0.1378 0.1022 0.16 0.11 0.18 0.11 0.11 rs1059395 COSM5654288 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1357 0.1159 0.0924 0.1355 0.0164 0.1255 0.1810 0.1462 0.1010 0.1374 0.1175 0.1026 0.1258 0.0216 0.1246 0.1658 0.15 het 1587.94 159 15 40330518 . T G 1587.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.881;DP=159;Dels=0.00;FS=3.911;HRun=0;HaplotypeScore=2.9281;MQ=58.73;MQ0=0;MQRankSum=0.330;QD=9.99;ReadPosRankSum=-1.396;VQSLOD=4.6847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,72:159:99:1618,0,2471 15 40330564 40330564 C T exonic SRP14 synonymous SNV SRP14:NM_003134:exon3:c.G129A:p.K43K 0.89 0.92 0.92 0.76 0.93 0.9 0.9103 0.9329 0.9509 0.7369 0.9037 0.9255 0.9078 0.9001 0.93 0.94 0.93 0.88 0.91 rs7321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9091 0.9325 0.9494 0.8821 0.7326 0.9096 0.9258 0.9140 0.8997 0.9172 0.9373 0.9463 0.9040 0.7345 0.9084 0.9267 0.9053 hom 4790.80 156 15 40330564 . C T 4790.80 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.1321;MQ=59.22;MQ0=0;QD=30.71;VQSLOD=7.2670;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4790,364,0 15 40477831 40477831 G A exonic BUB1B nonsynonymous SNV BUB1B:NM_001211:exon8:c.G1046A:p.R349Q 0.63 0.86 0.61 0.35 0.69 0.56 0.6566 0.8151 0.6023 0.3177 0.7344 0.7047 0.6531 0.5469 0.74 0.81 0.7 0.7 0.71 rs1801376 COSM5003168;COSM5003167 1(pancreas) Benign\x2cBenign Mosaic_variegated_aneuploidy_syndrome\x2cnot_specified RCV000210495.3\x2cRCV000120431.1 MedGen:OMIM:Orphanet\x2cMedGen C1850343:257300:ORPHA1052\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 1.000 0.090 P -2.255 0.001 N 2.74 0.119 T 2.22 0.003 N 0.109 0.117 -0.980 0.351 T 0.000 0.000 T . . . 2.297 0.337 18.15 0.302 0.016 0.054 0.111 N c -0.930 -0.593 1.000 0.409 0.707 0.730 0 4.72 0.591 3.420 0.522 0.168 0.246 0.998 0.411 0.977 0.480 8.975 0.349 . ENSG00000156970.8 Testis 0.6510 0.8247 0.6109 0.5955 0.3204 0.7381 0.7077 0.6417 0.5442 0.7235 0.8293 0.6325 0.6159 0.3188 0.7284 0.7128 0.7035 het 1648.12 147 15 40477831 . G A 1648.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DP=147;Dels=0.01;FS=1.439;HRun=1;HaplotypeScore=2.6053;MQ=58.82;MQ0=1;MQRankSum=-0.371;QD=11.14;ReadPosRankSum=-0.671;VQSLOD=6.3239;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,67:147:99:1678,0,2027 15 40558064 40558064 A G exonic BUB1B-PAK6;PAK6 nonsynonymous SNV PAK6:NM_001276717:exon3:c.A226G:p.M76V,BUB1B-PAK6:NM_001128629:exon4:c.A226G:p.M76V,BUB1B-PAK6:NM_001128628:exon5:c.A226G:p.M76V,PAK6:NM_001276718:exon5:c.A226G:p.M76V,PAK6:NM_020168:exon5:c.A226G:p.M76V 0.19 0.34 0.076 0.15 0.086 0.2 0.1109 0.2842 0.0502 0.1240 0.1082 0.0830 0.1053 0.1891 0.14 0.26 0.076 0.26 0.066 rs2412504 . . . . . . . . . . . . . 1.0 0.118 T 0.0 0.026 B 0.0 0.013 B 0.008 0.308 N 1 0.090 P -0.805 0.016 N -0.63 0.724 T 0.26 0.044 N 0.033 0.295 -1.011 0.265 T 0.000 0.000 T . . . -2.120 0.007 0.001 0.469 0.037 0.031 0.079 N c -1.436 -1.307 0.992 0.325 0.646 0.450 0 1.85 0.243 0.688 0.249 -0.233 0.094 0.157 0.235 0.031 0.148 7.315 0.255 . . . 0.1052 0.2796 0.0500 0.0824 0.1189 0.1098 0.0773 0.0954 0.1762 0.1491 0.2827 0.0537 0.0497 0.1116 0.1081 0.0947 0.1135 hom 1899.58 63 15 40558064 . A G 1899.58 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=30.15;VQSLOD=9.1454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1933,150,0 15 40558482 40558482 A G exonic BUB1B-PAK6;PAK6 nonsynonymous SNV PAK6:NM_001276717:exon3:c.A644G:p.H215R,BUB1B-PAK6:NM_001128629:exon4:c.A644G:p.H215R,BUB1B-PAK6:NM_001128628:exon5:c.A644G:p.H215R,PAK6:NM_001276718:exon5:c.A644G:p.H215R,PAK6:NM_020168:exon5:c.A644G:p.H215R 0.19 0.36 0.076 0.15 0.086 0.2 0.1156 0.3034 0.0508 0.1252 0.1081 0.0827 0.1039 0.1759 0.14 0.28 0.076 0.27 0.057 rs3743135 . . . . . . . . . . . . . 0.879 0.025 T 0.0 0.026 B 0.0 0.013 B 0.862 0.071 N 1 0.090 P -0.55 0.024 N -0.67 0.728 T 0.26 0.054 N 0.25 0.305 -1.053 0.137 T 0.000 0.000 T . . . -2.114 0.007 0.001 0.550 0.051 0.002 0.009 N c -1.449 -1.400 0.987 0.312 0.646 0.450 0 0.154 0.141 0.309 0.190 -0.741 0.035 0.000 0.063 0.014 0.122 6.832 0.229 . . . 0.1056 0.2974 0.0496 0.0842 0.1197 0.1093 0.0770 0.0954 0.1737 0.1536 0.2989 0.0537 0.0497 0.1111 0.1083 0.0946 0.1141 hom 831.12 27 15 40558482 . A G 831.12 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=30.78;VQSLOD=8.8546;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:72.21:864,72,0 15 40590134 40590134 G A exonic PLCB2 synonymous SNV PLCB2:NM_001284297:exon12:c.C1182T:p.S394S,PLCB2:NM_001284298:exon12:c.C1182T:p.S394S,PLCB2:NM_004573:exon12:c.C1182T:p.S394S 0.69 0.83 0.67 0.79 0.47 0.64 0.5818 0.7820 0.7436 0.8281 0.5253 0.4847 0.5322 0.6384 0.59 0.78 0.49 0.76 0.49 rs2229690 COSM1158649 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5821 0.7840 0.7254 0.4112 0.8221 0.5317 0.4867 0.5415 0.6351 0.6044 0.7766 0.6794 0.3960 0.8265 0.5195 0.5050 0.5256 het 1051.09 79 15 40590134 . G A 1051.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.774;DP=79;Dels=0.00;FS=6.463;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=-0.721;QD=13.30;ReadPosRankSum=-0.800;VQSLOD=5.1717;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,46:79:99:1081,0,903 15 40627845 40627845 G A exonic C15orf52 synonymous SNV C15orf52:NM_207380:exon11:c.C1119T:p.S373S 0.15 0.086 0.17 0.028 0.28 0.2 0.2915 0.1149 0.2245 0.0560 0.4387 0.3443 0.2266 0.3784 0.21 0.1 0.26 0.16 0.025 rs55641696 COSM4148702;COSM4148703 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2126 0.1015 0.1287 0.3329 0.0383 0.2883 0.2673 0.2297 0.2243 0.2070 0.1079 0.1447 0.3367 0.0451 0.2865 0.2626 0.2418 het 197 10 15 40627845 . G A 197 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.898;DP=10;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=0.898;QD=19.70;ReadPosRankSum=0.898;VQSLOD=3.0993;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:2,8:10:38.82:227,0,39 15 40655845 40655845 C G exonic DISP2 nonsynonymous SNV DISP2:NM_033510:exon2:c.C139G:p.P47A 0.73 0.67 0.74 0.83 0.63 0.78 0.7131 0.6861 0.7319 0.8616 0.8186 0.6716 0.7333 0.7855 0.66 0.67 0.66 0.75 0.5 rs1898883 COSM3754290 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.176 0.172 N 1.000 0.090 P -1.735 0.003 N 2.98 0.094 T 0.74 0.020 N 0.035 0.016 -1.003 0.289 T 0.000 0.000 T . . . 0.328 0.126 5.958 0.335 0.020 0.029 0.076 N c -0.823 -0.540 1.000 0.747 0.581 0.326 0 4.26 0.497 1.324 0.331 -0.224 0.096 0.899 0.312 0.897 0.379 8.223 0.305 . ENSG00000140323.4|ENSG00000140323.4|ENSG00000140323.4|ENSG00000140323.4|ENSG00000140323.4|ENSG00000259368.1|ENSG00000140323.4|ENSG00000259368.1|ENSG00000140323.4|ENSG00000259368.1|ENSG00000140323.4|ENSG00000259368.1|ENSG00000140323.4|ENSG00000259368.1|ENSG00000140323.4|ENSG00000128928.4|ENSG00000140323.4|ENSG00000128891.11|ENSG00000140323.4|ENSG00000128928.4|ENSG00000140323.4|ENSG00000128891.11|ENSG00000259368.1|ENSG00000140323.4|ENSG00000140323.4|ENSG00000259368.1|ENSG00000140323.4|ENSG00000261374.1|ENSG00000140320.7|ENSG00000140323.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Vagina 0.7205 0.6882 0.7250 0.6980 0.8603 0.8185 0.6667 0.7022 0.7823 0.7086 0.6894 0.7278 0.6424 0.8517 0.8173 0.6778 0.7310 het 3001.34 237 15 40655845 . C G 3001.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.414;DP=237;DS;Dels=0.00;FS=0.481;HRun=1;HaplotypeScore=6.0282;MQ=59.67;MQ0=0;MQRankSum=0.838;QD=12.66;ReadPosRankSum=-0.935;VQSLOD=4.5243;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,116:237:99:3031,0,3302 15 40660566 40660566 G A exonic DISP2 synonymous SNV DISP2:NM_033510:exon8:c.G2253A:p.A751A 0.11 0.087 0.14 0.019 0.2 0.12 0.1764 0.1077 0.0795 0.0241 0.2581 0.2278 0.2075 0.1275 0.17 0.096 0.21 0.043 0.15 rs72733420 COSM433777 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1690 0.1004 0.0917 0.2331 0.0210 0.2609 0.2154 0.1821 0.1286 0.1749 0.1018 0.1146 0.2483 0.0167 0.2639 0.2134 0.2117 het 876.41 59 15 40660566 . G A 876.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.470;DP=59;Dels=0.00;FS=2.325;HRun=0;HaplotypeScore=2.4940;MQ=59.61;MQ0=0;MQRankSum=1.404;QD=14.85;ReadPosRankSum=0.478;VQSLOD=6.0184;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,31:59:99:906,0,697 15 40685406 40685406 A T exonic KNSTRN nonsynonymous SNV KNSTRN:NM_001142761:exon9:c.A835T:p.N279Y 0.12 0.19 0.092 0.013 0.14 0.1 0.1319 0.1800 0.0546 0.0148 0.2129 0.1506 0.1556 0.1096 0.16 0.17 0.15 0.12 . rs8036457 . . . . . . . . . . . . . 0.0 0.912 D 0.965 0.541 D 0.663 0.511 P . . . 1 0.090 P . . . 1.83 0.248 T -1.5 0.366 N 0.06 0.044 -1.060 0.117 T 0.000 0.000 T . . . 0.079 0.101 3.385 0.979 0.361 0.111 0.162 N c -0.423 -0.656 1.000 0.467 0.372 0.050 0 0.015 0.134 0.745 0.257 1.028 0.649 0.000 0.063 0.017 0.128 5.666 0.169 . ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128928.4|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Uterus 0.1283 0.1835 0.0622 0.1411 0.0121 0.2152 0.1446 0.1338 0.1115 0.1569 0.1850 0.0813 0.1457 0.0117 0.2195 0.1459 0.1582 het 1556.72 130 15 40685406 . A T 1556.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.548;DP=130;Dels=0.00;FS=1.392;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.276;QD=11.97;ReadPosRankSum=0.270;VQSLOD=5.3824;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,65:130:99:1587,0,1506 15 40705225 40705225 C T exonic IVD synonymous SNV IVD:NM_001159508:exon6:c.C642T:p.D214D,IVD:NM_002225:exon7:c.C732T:p.D244D 0.079 0.07 0.082 0.013 0.14 0.093 0.1164 0.0842 0.0516 0.0147 0.2034 0.1414 0.1457 0.0980 0.12 0.083 0.14 0.087 0.12 rs2229312 . . Benign|Likely benign not_specified|Isovaleryl-CoA_dehydrogenase_deficiency RCV000080001.5|RCV000315524.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268575:243500:ORPHA33:87827003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1155 0.0835 0.0592 0.1414 0.0120 0.2065 0.1358 0.1278 0.1007 0.1233 0.0864 0.0847 0.1623 0.0111 0.2090 0.1365 0.1531 het 1281.54 100 15 40705225 . C T 1281.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.062;DP=100;Dels=0.00;FS=0.753;HRun=0;HaplotypeScore=2.9913;MQ=59.44;MQ0=0;MQRankSum=0.125;QD=12.82;ReadPosRankSum=0.457;VQSLOD=6.3497;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,55:100:99:1312,0,1040 15 40750740 40750740 A G exonic BAHD1 nonsynonymous SNV BAHD1:NM_001301132:exon2:c.A77G:p.E26G,BAHD1:NM_014952:exon2:c.A77G:p.E26G 0.057 0.0008 0.06 0.14 0.024 0.078 0.0425 0.0072 0.1119 0.1313 0.0026 0.0201 0.0510 0.0758 0.016 0.0073 0.021 0.033 0.033 rs3743143 COSM3999517 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.001 0.784 D 0.001 0.067 B 0.004 0.093 B 0.055 0.227 N 0.175 0.348 P 0.55 0.145 N 2.0 0.215 T -1.36 0.344 N 0.331 0.392 -1.097 0.044 T 0.001 0.002 T . . . 3.309 0.456 22.9 0.999 0.940 0.764 0.372 D c -0.190 0.030 1.000 0.517 0.722 0.854 0 5.14 0.699 2.712 0.466 1.193 0.911 1.000 0.715 0.999 0.750 8.418 0.317 . . . 0.0458 0.0066 0.1058 0.0482 0.1346 0.0024 0.0196 0.0435 0.0757 0.0222 0.0073 0.0883 0.0397 0.1475 0.0017 0.0181 0.0204 het 2862.44 223 15 40750740 . A G 2862.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.248;DP=223;DS;Dels=0.00;FS=3.291;HRun=2;HaplotypeScore=8.0888;MQ=60.00;MQ0=0;MQRankSum=0.220;QD=12.84;ReadPosRankSum=-0.659;VQSLOD=4.4469;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,103:223:99:2892,0,3238 15 40751555 40751555 C A exonic BAHD1 nonsynonymous SNV BAHD1:NM_001301132:exon2:c.C892A:p.Q298K,BAHD1:NM_014952:exon2:c.C892A:p.Q298K 0.68 0.83 0.62 0.79 0.47 0.6 0.5914 0.7699 0.6632 0.8195 0.5767 0.5131 0.5926 0.6297 0.59 0.75 0.5 0.74 0.42 rs3803357 COSM433784 1(large_intestine) . . . . . . . . . . . 0.028 0.654 D 0.11 0.246 B 0.033 0.210 B 0.002 0.375 N 0.964 0.260 P 0.345 0.112 N 0.39 0.574 T -0.19 0.102 N 0.321 0.382 -0.988 0.331 T 0.000 0.000 T . . . 2.915 0.411 21.9 0.971 0.316 0.560 0.298 D c -0.248 -0.015 1.000 0.747 0.707 0.730 0 4.65 0.575 1.620 0.364 0.935 0.490 0.937 0.323 0.989 0.536 10.566 0.442 . ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000140320.7|ENSG00000128891.11|ENSG00000259536.1|ENSG00000140320.7|ENSG00000128928.4|ENSG00000259211.1|ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000140320.7|ENSG00000128891.11|ENSG00000140320.7|ENSG00000128891.11|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000140320.7|ENSG00000259211.1|ENSG00000128891.11|ENSG00000128891.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Stomach|Testis|Thyroid|Thyroid|Vagina|Whole_Blood 0.5875 0.7710 0.6482 0.5998 0.8167 0.5735 0.4987 0.5452 0.6315 0.6143 0.7646 0.6256 0.5367 0.8039 0.5684 0.5195 0.5856 het 1515.32 128 15 40751555 . C A 1515.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.964;DP=128;Dels=0.00;FS=0.652;HRun=1;HaplotypeScore=2.9142;MQ=59.82;MQ0=0;MQRankSum=0.895;QD=11.84;ReadPosRankSum=0.533;VQSLOD=6.3765;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,62:128:99:1545,0,1752 15 40898643 40898643 G C exonic KNL1 nonsynonymous SNV KNL1:NM_144508:exon4:c.G128C:p.R43T,KNL1:NM_170589:exon4:c.G128C:p.R43T 0.65 0.73 0.61 0.35 0.86 0.68 0.7456 0.7634 0.4648 0.3222 0.8366 0.8357 0.7973 0.7499 0.82 0.77 0.84 0.61 0.88 rs7177192 COSM4382881;COSM147880 1(stomach);20(soft_tissue);2(prostate);1(large_intestine) Benign|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000116558.1|RCV000371367.1 MedGen|MedGen CN169374|CN239428 . . . . . . 0.53 0.081 T 0.0 0.026 B 0.0 0.013 B 0.066 0.022 N 1 0.090 P -1.61 0.004 N 1.93 0.229 T 1.37 0.009 N 0.032 0.012 -0.968 0.376 T 0.000 0.000 T . . . -1.469 0.018 0.003 0.299 0.016 0.002 0.009 N c -1.925 -1.903 0.571 0.215 0.651 0.465 0 -4.84 0.029 -0.751 0.049 0.038 0.153 0.014 0.188 0.891 0.375 2.286 0.038 . ENSG00000137824.11|ENSG00000137824.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1 Heart_Left_Ventricle|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Thyroid|Thyroid 0.7382 0.7649 0.4870 0.8116 0.3218 0.8416 0.8403 0.7790 0.7556 0.7939 0.7709 0.5634 0.8046 0.2983 0.8426 0.8618 0.7974 hom 1076.43 40 15 40898643 . G C 1076.43 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;QD=26.91;VQSLOD=7.3796;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:40:81.27:1109,81,0 15 40913840 40913840 G T exonic KNL1 nonsynonymous SNV KNL1:NM_144508:exon10:c.G1378T:p.A460S,KNL1:NM_170589:exon11:c.G1456T:p.A486S 0.65 0.73 0.61 0.35 0.86 0.68 0.7455 0.7636 0.4646 0.3223 0.8367 0.8356 0.7966 0.7501 0.82 0.77 0.84 0.61 0.87 rs2412541 . . Benign|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000116560.1|RCV000280144.1 MedGen|MedGen CN169374|CN239428 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.019 0.274 N 1 0.090 P -0.46 0.027 N 3.69 0.041 T 0.68 0.022 N 0.02 0.004 -1.032 0.197 T 0.000 0.000 T . . . -1.118 0.028 0.009 0.190 0.006 0.005 0.022 N c -1.350 -1.117 0.008 0.116 0.651 0.465 0 1.67 0.230 -0.131 0.104 0.152 0.238 0.000 0.063 0.975 0.474 2.379 0.041 . ENSG00000137824.11|ENSG00000137824.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1 Heart_Left_Ventricle|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Thyroid|Thyroid 0.7376 0.7648 0.4860 0.8103 0.3212 0.8417 0.8400 0.7781 0.7557 0.7942 0.7706 0.5621 0.8046 0.3 0.8417 0.8617 0.8008 hom 1497.14 48 15 40913840 . G T 1497.14 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.19;VQSLOD=14.1050;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1530,123,0 15 40914177 40914177 T C exonic KNL1 nonsynonymous SNV KNL1:NM_144508:exon10:c.T1715C:p.M572T,KNL1:NM_170589:exon11:c.T1793C:p.M598T 0.35 0.35 0.33 0.25 0.4 0.42 0.3924 0.3645 0.2457 0.2416 0.4606 0.4129 0.4263 0.4786 0.39 0.37 0.4 0.37 0.41 rs11858113 COSM3754294;COSM3754293 1(bone);1(pancreas);1(large_intestine) Benign|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000116561.1|RCV000300029.1 MedGen|MedGen CN169374|CN239428 . . . . . . 0.196 0.229 T 0.001 0.466 B 0.004 0.485 B 0.085 0.207 N 0.970 0.588 P 1.795 0.474 L 2.16 0.192 T -2.94 0.614 D 0.096 0.097 -0.938 0.429 T 0.000 0.000 T . . . -0.133 0.082 1.498 0.883 0.173 0.921 0.547 D c -0.450 -0.474 0.025 0.136 0.745 0.986 0 0.769 0.176 1.523 0.353 -0.810 0.031 1.000 0.715 0.987 0.523 6.548 0.215 . ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000259536.1|ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000166140.13|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000140320.7|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000128891.11|ENSG00000166140.13|ENSG00000140320.7|ENSG00000245849.2|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Vagina|Vagina|Whole_Blood|Whole_Blood 0.3871 0.3693 0.2578 0.4169 0.2380 0.4612 0.4073 0.3871 0.4841 0.4074 0.3778 0.2883 0.3841 0.2184 0.4624 0.4371 0.4397 hom 2100.61 69 15 40914177 . T C 2100.61 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=30.44;VQSLOD=9.2411;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2134,172,0 15 40914772 40914772 C T exonic KNL1 synonymous SNV KNL1:NM_144508:exon10:c.C2310T:p.V770V,KNL1:NM_170589:exon11:c.C2388T:p.V796V 0.35 0.35 0.33 0.25 0.4 0.42 0.3928 0.3601 0.2453 0.2417 0.4609 0.4132 0.4283 0.4858 0.39 0.36 0.4 0.38 0.42 rs11855334 COSM3754295;COSM147881 1(stomach);15(soft_tissue);1(large_intestine) Benign|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000116562.1|RCV000369685.1 MedGen|MedGen CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3872 0.3643 0.2588 0.4191 0.2381 0.4619 0.4075 0.3869 0.4845 0.4067 0.3741 0.2883 0.3867 0.2191 0.4631 0.4378 0.4395 hom 1810.51 58 15 40914772 . C T 1810.51 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=31.22;VQSLOD=9.4614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1844,144,0 15 40915045 40915045 T G exonic KNL1 synonymous SNV KNL1:NM_144508:exon10:c.T2583G:p.T861T,KNL1:NM_170589:exon11:c.T2661G:p.T887T 0.35 0.35 0.33 0.25 0.4 0.42 0.3923 0.3620 0.2458 0.2417 0.4609 0.4131 0.4254 0.4787 0.39 0.37 0.4 0.38 0.4 rs8041534 COSM3754297;COSM3754296 1(large_intestine) Benign|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000116565.1|RCV000364844.1 MedGen|MedGen CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3868 0.3665 0.2574 0.4168 0.2379 0.4610 0.4072 0.3866 0.4844 0.4067 0.3755 0.2859 0.38 0.2184 0.4628 0.4373 0.4389 hom 1693.35 60 15 40915045 . T G 1693.35 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3275;MQ=56.74;MQ0=0;QD=28.22;VQSLOD=4.4099;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1726,141,0 15 40915190 40915190 A G exonic KNL1 nonsynonymous SNV KNL1:NM_144508:exon10:c.A2728G:p.R910G,KNL1:NM_170589:exon11:c.A2806G:p.R936G 0.71 0.92 0.62 0.35 0.86 0.68 0.7589 0.9143 0.4701 0.3228 0.8367 0.8362 0.8044 0.7507 0.87 0.92 0.84 0.73 0.9 rs8040502 COSM4381491;COSM147882 1(stomach);21(soft_tissue);1(prostate);1(large_intestine) Benign Primary_Microcephaly\x2c_Recessive RCV000320581.1 MedGen CN239428 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.170 0.174 N 1 0.090 P -1.59 0.004 N 2.57 0.136 T 3.75 0.001 N 0.021 0.005 -1.015 0.255 T 0.000 0.000 T . . . 0.453 0.138 7.062 0.931 0.222 0.003 0.014 N c -1.313 -1.098 0.958 0.283 0.732 0.924 0 3.03 0.339 2.686 0.464 0.138 0.222 0.998 0.411 0.884 0.371 7.485 0.264 . ENSG00000104129.5|ENSG00000137824.11|ENSG00000137824.11|ENSG00000128891.11|ENSG00000259536.1 Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal|Thyroid|Thyroid 0.7486 0.9130 0.4932 0.8121 0.3220 0.8418 0.8407 0.7842 0.7566 0.8352 0.9146 0.5680 0.8046 0.3004 0.8418 0.8623 0.8041 hom 2514.25 77 15 40915190 . A G 2514.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.687;DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8401;MQ=58.71;MQ0=0;MQRankSum=-1.507;QD=32.65;ReadPosRankSum=1.282;VQSLOD=8.7354;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,76:77:99:2547,199,0 15 40915894 40915894 T C exonic KNL1 synonymous SNV KNL1:NM_144508:exon10:c.T3432C:p.N1144N,KNL1:NM_170589:exon11:c.T3510C:p.N1170N 0.35 0.35 0.33 0.25 0.4 0.42 0.3935 0.3655 0.2469 0.2418 0.4594 0.4144 0.4265 0.4792 0.39 0.37 0.4 0.39 0.42 rs11070285 COSM3754298;COSM3754299 1(large_intestine) Benign|Benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000116568.1|RCV000317334.1 MedGen|MedGen CN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3877 0.3680 0.2588 0.4262 0.2379 0.4604 0.4077 0.3887 0.4847 0.4079 0.3764 0.2871 0.3974 0.2208 0.4624 0.4385 0.4398 hom 2488 83 15 40915894 . T C 2488 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=3.9593;MQ=56.42;MQ0=0;QD=29.62;VQSLOD=4.0151;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2521,205,0 15 40916801 40916801 A G exonic KNL1 nonsynonymous SNV KNL1:NM_144508:exon10:c.A4339G:p.T1447A,KNL1:NM_170589:exon11:c.A4417G:p.T1473A 0.031 0.0023 0.049 . 0.093 0.025 0.0685 0.0150 0.0365 0.0001 0.1293 0.0923 0.0859 0.0368 0.067 0.019 0.088 0.043 0.082 rs16970911 . . Likely benign|Likely benign not_specified|Primary_Microcephaly\x2c_Recessive RCV000116572.2|RCV000288975.1 MedGen|MedGen CN169374|CN239428 . . . . . . 0.371 0.115 T 0.04 0.316 B 0.028 0.230 B 0.348 0.139 N 1 0.090 N 0.345 0.112 N 3.57 0.047 T -1.36 0.338 N 0.014 0.137 -0.902 0.478 T 0.000 0.001 T . . . -0.733 0.043 0.061 0.840 0.145 0.054 0.111 N c -1.020 -1.035 0.007 0.114 0.651 0.465 0 1.48 0.218 0.415 0.208 0.191 0.249 0.000 0.063 0.010 0.111 8.284 0.309 . ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000128891.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Uterus|Uterus 0.0704 0.0145 0.0453 0.1064 0.0004 0.1304 0.0897 0.0873 0.0367 0.0660 0.0189 0.0644 0.1325 0.0006 0.1251 0.0841 0.0888 het 1230.49 86 15 40916801 . A G 1230.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.657;DP=86;Dels=0.00;FS=3.260;HRun=0;HaplotypeScore=0.9469;MQ=59.78;MQ0=0;MQRankSum=-0.257;QD=14.31;ReadPosRankSum=-0.057;VQSLOD=6.6601;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,48:86:99:1260,0,969 15 41105926 41105926 T G exonic ZFYVE19 nonsynonymous SNV ZFYVE19:NM_001258420:exon8:c.T922G:p.S308A,ZFYVE19:NM_001077268:exon9:c.T1126G:p.S376A,ZFYVE19:NM_001258421:exon9:c.T601G:p.S201A,ZFYVE19:NM_032850:exon10:c.T1096G:p.S366A 0.81 0.77 0.84 0.9 0.76 0.8 0.7843 0.7747 0.8893 0.8955 0.7969 0.7458 0.7892 0.8089 0.75 0.77 0.75 0.77 0.63 rs690347 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -3.025 0.000 N 1.61 0.284 T 1.2 0.020 N 0.049 0.367 -0.958 0.395 T 0.000 0.000 T . . . 1.672 0.262 14.25 0.895 0.183 0.063 0.121 N c -0.779 -0.433 1.000 0.747 0.706 0.609 0 5.27 0.737 6.146 0.713 0.136 0.221 1.000 0.715 1.000 0.888 14.498 0.671 . ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000128891.11|ENSG00000128891.11|ENSG00000166140.13|ENSG00000128891.11|ENSG00000166140.13|ENSG00000259536.1|ENSG00000166140.13|ENSG00000166140.13|ENSG00000128891.11|ENSG00000166140.13|ENSG00000166140.13|ENSG00000128891.11|ENSG00000166140.13|ENSG00000128891.11|ENSG00000166140.13|ENSG00000128891.11|ENSG00000128891.11|ENSG00000166140.13|ENSG00000166140.13|ENSG00000128891.11|ENSG00000128891.11|ENSG00000259536.1|ENSG00000166140.13|ENSG00000128891.11|ENSG00000166140.13|ENSG00000128891.11|ENSG00000166140.13|ENSG00000128891.11|ENSG00000166140.13|ENSG00000166140.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.7897 0.7738 0.8823 0.7697 0.8924 0.7945 0.7430 0.7772 0.8127 0.7715 0.7778 0.8580 0.7483 0.8796 0.7951 0.7450 0.7895 hom 984.13 34 15 41105926 . T G 984.13 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.95;VQSLOD=13.8506;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:75.24:1017,75,0 15 41145919 41145919 C T exonic SPINT1 synonymous SNV SPINT1:NM_001032367:exon4:c.C753T:p.L251L,SPINT1:NM_003710:exon5:c.C753T:p.L251L,SPINT1:NM_181642:exon5:c.C753T:p.L251L 0.022 0.0038 0.045 . 0.067 0.0072 0.0418 0.0127 0.0384 0 0.0296 0.0603 0.0485 0.0141 0.046 0.012 0.063 . 0.057 rs17658212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0417 0.0114 0.0376 0.0626 5.798e-05 0.0281 0.0615 0.0522 0.0144 0.0347 0.0127 0.0406 0.0596 0 0.0272 0.0523 0.0327 het 1723.71 182 15 41145919 . C T 1723.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.461;DP=182;Dels=0.00;FS=3.707;HRun=1;HaplotypeScore=1.9279;MQ=59.18;MQ0=0;MQRankSum=0.362;QD=9.47;ReadPosRankSum=1.419;VQSLOD=6.0039;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,71:182:99:1754,0,2883 15 41148199 41148199 C T exonic SPINT1 synonymous SNV SPINT1:NM_001032367:exon8:c.C1227T:p.Y409Y,SPINT1:NM_003710:exon9:c.C1227T:p.Y409Y,SPINT1:NM_181642:exon9:c.C1275T:p.Y425Y 0.85 0.75 0.89 0.99 0.83 0.86 0.8520 0.7581 0.9196 0.9903 0.8536 0.8313 0.8370 0.8755 0.8 0.77 0.82 0.9 0.82 rs659232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8547 0.7571 0.9104 0.8493 0.9886 0.8466 0.8257 0.8445 0.8815 0.8167 0.7646 0.8890 0.8311 0.9920 0.8491 0.8162 0.8187 hom 7661.18 244 15 41148199 . C T 7661.18 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.16;MQ0=0;QD=31.40;VQSLOD=9.6537;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,244:244:99:7660,605,0 15 41149161 41149161 G C exonic SPINT1 synonymous SNV SPINT1:NM_001032367:exon10:c.G1530C:p.T510T,SPINT1:NM_003710:exon11:c.G1530C:p.T510T,SPINT1:NM_181642:exon11:c.G1578C:p.T526T 0.85 0.74 0.89 0.99 0.83 0.86 0.8513 0.7443 0.9200 0.9903 0.8539 0.8319 0.8377 0.8756 0.8 0.75 0.82 0.91 0.77 rs690458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8542 0.7439 0.9102 0.8494 0.9887 0.8473 0.8263 0.8453 0.8814 0.8130 0.7483 0.8890 0.8311 0.9920 0.8518 0.8169 0.8231 hom 6329.44 186 15 41149161 . G C 6329.44 Mask AC=2;AF=1.00;AN=2;DP=186;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6993;MQ=59.53;MQ0=0;QD=34.03;VQSLOD=6.4284;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:6329,494,0 15 41193149 41193149 C T exonic VPS18 synonymous SNV VPS18:NM_020857:exon4:c.C2133T:p.R711R 0.0026 0.0008 . . 0.0099 0.002 0.0063 0.0016 0.0048 0 0.0039 0.0094 0.0067 0.0021 0.0065 0.0014 0.0092 . 0.0082 rs12914973 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0058 0.0014 0.0029 0.0050 0 0.0035 0.0097 0.0073 0.0019 0.0058 0.0018 0.0012 0.0099 0 0.0054 0.0093 0.0020 het 1019.34 82 15 41193149 . C T 1019.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.119;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1054;MQ=58.81;MQ0=0;MQRankSum=-0.638;QD=12.43;ReadPosRankSum=0.742;VQSLOD=3.8179;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,40:82:99:1049,0,1118 15 41247859 41247859 A T exonic CHAC1 nonsynonymous SNV CHAC1:NM_024111:exon3:c.A682T:p.M228L,CHAC1:NM_001142776:exon4:c.A547T:p.M183L 0.007 0.0015 0.014 . 0.022 0.001 0.0165 0.0044 0.0081 0 0.0333 0.0239 0.0156 0.0024 0.019 0.005 0.026 . 0.041 rs112036939 . . . . . . . . . . . . . 0.531 0.228 T 0.01 0.302 B 0.009 0.312 B 0.000 0.843 N 1.000 0.588 D 0.855 0.214 L 1.54 0.301 T -1.97 0.488 N 0.361 0.422 -1.069 0.097 T 0.014 0.057 T . . . 0.779 0.168 9.335 0.714 0.093 0.941 0.598 D c -0.302 -0.150 1.000 0.747 0.646 0.442 0 3.33 0.371 7.508 0.804 0.191 0.249 1.000 0.715 0.976 0.476 8.028 0.294 Butirosin biosynthesis\x2c BtrG-like . . 0.0172 0.0039 0.0099 0.0093 5.802e-05 0.0340 0.0256 0.0165 0.0024 0.0174 0.0044 0.0095 0.0132 0 0.0389 0.0222 0.0193 het 1289 114 15 41247859 . A T 1289 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.970;DP=114;Dels=0.00;FS=0.768;HRun=1;HaplotypeScore=2.6665;MQ=58.98;MQ0=0;MQRankSum=-0.737;QD=11.31;ReadPosRankSum=-1.278;VQSLOD=5.2993;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,47:114:99:1319,0,1872 15 41339697 41339697 T C exonic INO80 nonsynonymous SNV INO80:NM_017553:exon23:c.A2644G:p.I882V 0.0066 0.0008 0.016 . 0.02 0.001 0.0136 0.0035 0.0066 0 0.0321 0.0190 0.0134 0.0024 0.014 0.0034 0.02 . 0.041 rs34153025 . . . . . . . . . . . . . 0.821 0.029 T 0.0 0.026 B 0.0 0.013 B 0.010 0.301 N 0.982 0.250 N 0.895 0.225 L -2.67 0.903 D -0.03 0.075 N 0.013 0.006 -0.812 0.545 T 0.204 0.562 T . . . 0.964 0.186 10.46 0.616 0.066 0.559 0.297 D c -0.657 -0.463 0.852 0.250 0.707 0.730 0 1.97 0.252 0.716 0.253 0.107 0.202 1.000 0.715 0.987 0.523 3.878 0.085 . . . 0.0143 0.0030 0.0087 0.0080 5.889e-05 0.0337 0.0198 0.0136 0.0024 0.0149 0.0033 0.0072 0.0099 0 0.0392 0.0179 0.0173 het 375.58 34 15 41339697 . T C 375.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.261;DP=34;Dels=0.00;FS=1.317;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=-0.742;QD=11.05;ReadPosRankSum=3.157;VQSLOD=4.4396;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,16:34:99:406,0,459 15 41476209 41476209 T C exonic EXD1 nonsynonymous SNV EXD1:NM_152596:exon10:c.A1465G:p.T489A,EXD1:NM_001286441:exon12:c.A1639G:p.T547A 0.82 0.78 0.83 0.99 0.73 0.78 0.7814 0.7656 0.8809 0.9904 0.7359 0.7414 0.7632 0.7924 0.74 0.76 0.73 0.85 0.71 rs522063 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.729 0.099 N 1 0.090 P 0 0.065 N 1.35 0.346 T 0.22 0.047 N 0.016 0.006 -0.981 0.348 T 0.000 0.000 T . . . -3.146 0.001 0.001 0.140 0.003 0.004 0.022 N c -2.167 -2.171 1.000 0.747 0.487 0.133 0 -8.2 0.009 -1.620 0.021 -1.584 0.009 0.000 0.063 0.000 0.016 5.333 0.151 . ENSG00000247556.2|ENSG00000247556.2|ENSG00000247556.2|ENSG00000137804.8|ENSG00000137806.4|ENSG00000137806.4|ENSG00000137804.8|ENSG00000137804.8|ENSG00000137806.4|ENSG00000137806.4|ENSG00000247556.2|ENSG00000187446.7|ENSG00000247556.2|ENSG00000247556.2|ENSG00000137806.4|ENSG00000247556.2|ENSG00000137806.4|ENSG00000247556.2|ENSG00000103932.7|ENSG00000137806.4|ENSG00000137806.4|ENSG00000137806.4|ENSG00000247556.2|ENSG00000137806.4|ENSG00000137806.4|ENSG00000137804.8|ENSG00000104147.4|ENSG00000247556.2|ENSG00000137806.4|ENSG00000247556.2|ENSG00000247556.2|ENSG00000137806.4|ENSG00000104147.4|ENSG00000137815.10|ENSG00000247556.2 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid 0.7825 0.7671 0.8685 0.7414 0.9901 0.7368 0.7377 0.7702 0.7909 0.7520 0.7576 0.8353 0.7517 0.9907 0.7391 0.7224 0.7363 hom 3660.78 115 15 41476209 . T C 3660.78 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=59.80;MQ0=0;QD=31.83;VQSLOD=9.5789;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3660,283,0 15 41679685 41679685 G C exonic NDUFAF1 nonsynonymous SNV NDUFAF1:NM_016013:exon5:c.C941G:p.A314G 0.072 0.012 0.11 . 0.18 0.084 0.1382 0.0344 0.0815 0.0002 0.1790 0.1845 0.1424 0.1114 0.14 0.037 0.19 0.065 0.19 rs12900702 . . Likely benign|Likely benign not_specified|Mitochondrial_complex_I_deficiency RCV000117704.2|RCV000348185.1 MedGen|MedGen:OMIM CN169374|C1838979:252010 . . . . . . 0.007 0.599 D 0.952 0.522 P 0.683 0.517 P 0.000 0.843 D 0.000 0.588 P 3.055 0.871 M -0.14 0.650 T -3.69 0.704 D 0.174 0.211 -1.176 0.004 T 0.001 0.003 T . . . 6.450 0.890 29.8 0.998 0.860 0.989 0.886 D c 0.769 0.787 1.000 0.747 0.732 0.924 0 5.58 0.843 9.052 0.933 1.040 0.660 1.000 0.715 1.000 0.888 19.592 0.955 . ENSG00000137806.4|ENSG00000137806.4|ENSG00000137815.10 Cells_Transformed_fibroblasts|Muscle_Skeletal|Thyroid 0.1375 0.0300 0.0842 0.1768 0.0005 0.1709 0.1867 0.1456 0.1088 0.1256 0.0366 0.0931 0.1887 0.0006 0.1764 0.1779 0.1551 het 1438.93 105 15 41679685 . G C 1438.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.792;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8561;MQ=58.45;MQ0=0;MQRankSum=-1.144;QD=13.70;ReadPosRankSum=-0.266;VQSLOD=5.1219;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,54:105:99:1469,0,1239 15 41813279 41813279 C T exonic RPAP1 synonymous SNV RPAP1:NM_015540:exon22:c.G3105A:p.R1035R 0.3 0.13 0.33 0.28 0.43 0.4 0.3836 0.1720 0.3521 0.3030 0.4210 0.4254 0.3977 0.4084 0.34 0.18 0.43 0.28 0.34 rs3743031 COSM433825 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3797 0.1654 0.3526 0.4007 0.2916 0.4210 0.4243 0.4004 0.3973 0.3319 0.1688 0.3577 0.4470 0.2778 0.4147 0.4050 0.4047 het 1074.42 105 15 41813279 . C T 1074.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.325;DP=105;Dels=0.00;FS=0.751;HRun=0;HaplotypeScore=2.7708;MQ=59.47;MQ0=0;MQRankSum=1.495;QD=10.23;ReadPosRankSum=-1.050;VQSLOD=6.1799;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,42:105:99:1104,0,1820 15 41815516 41815516 G C exonic RPAP1 nonsynonymous SNV RPAP1:NM_015540:exon18:c.C2473G:p.Q825E 0.98 0.91 0.99 1. 1. 1. 0.9925 0.9213 0.9984 1 1 0.9991 0.9978 0.9999 0.97 0.92 1. 0.92 1. rs8027526 COSM4148740 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -2.77 0.000 N -0.14 0.650 T 1.5 0.007 N 0.101 0.115 -0.934 0.436 T 0.000 0.000 T . . . -0.133 0.082 1.496 0.211 0.008 0.007 0.029 N c -0.870 -0.556 1.000 0.747 0.672 0.522 0 5.7 0.886 3.718 0.544 0.060 0.166 1.000 0.715 0.429 0.259 14.379 0.663 . . . 0.9940 0.9209 0.9978 0.9852 1 1 0.9998 0.9982 0.9999 0.9777 0.9223 0.9964 0.9934 1 1 0.9999 0.9939 hom 1528.54 48 15 41815516 . G C 1528.54 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;QD=31.84;VQSLOD=8.9475;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1562,120,0 15 41819716 41819716 C T exonic RPAP1 nonsynonymous SNV RPAP1:NM_015540:exon12:c.G1516A:p.E506K 0.51 0.64 0.57 0.35 0.52 0.44 0.5073 0.6409 0.5660 0.3256 0.5091 0.5166 0.4846 0.4398 0.55 0.63 0.5 0.47 0.54 rs1200345 COSM147884 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(prostate);2(large_intestine) . . . . . . . . . . . 0.107 0.295 T 0.995 0.657 D 0.454 0.444 P 0.000 0.843 D 0.000 0.588 P 2.625 0.771 M -0.2 0.661 T -1.02 0.279 N 0.317 0.383 -0.875 0.502 T 0.000 0.000 T . . . 6.127 0.845 28.4 0.999 0.985 0.990 0.898 D c 0.629 0.623 1.000 0.747 0.707 0.730 0 5.37 0.769 6.039 0.704 0.925 0.434 1.000 0.715 0.963 0.446 18.251 0.899 . ENSG00000137877.8|ENSG00000103932.7|ENSG00000137877.8|ENSG00000103932.7|ENSG00000103932.7|ENSG00000137877.8|ENSG00000103932.7|ENSG00000103932.7|ENSG00000137877.8|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000137877.8|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000137806.4|ENSG00000103932.7|ENSG00000137877.8|ENSG00000092445.7|ENSG00000103932.7|ENSG00000062524.11|ENSG00000137825.6|ENSG00000137877.8|ENSG00000137806.4|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000137877.8|ENSG00000092445.7|ENSG00000103932.7|ENSG00000103932.7|ENSG00000103932.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood 0.5073 0.6420 0.5694 0.5269 0.3315 0.5092 0.5128 0.5071 0.4432 0.5466 0.6439 0.5597 0.4669 0.3362 0.5026 0.5275 0.4898 het 1306.26 85 15 41819716 . C T 1306.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.151;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9788;MQ=59.01;MQ0=0;MQRankSum=1.144;QD=15.37;ReadPosRankSum=0.050;VQSLOD=6.3612;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,50:85:99:1336,0,802 15 41821752 41821752 T C exonic RPAP1 synonymous SNV RPAP1:NM_015540:exon9:c.A1074G:p.R358R 0.51 0.65 0.57 0.35 0.52 0.44 0.5222 0.6508 0.5800 0.3409 0.5288 0.5313 0.5049 0.4565 0.55 0.63 0.5 0.47 0.5 rs1200349 COSM4148745 1(pancreas);1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5077 0.6429 0.5697 0.5278 0.3388 0.5089 0.5125 0.5065 0.4432 0.5487 0.6450 0.5586 0.4669 0.3389 0.5026 0.5307 0.4939 het 408.54 36 15 41821752 . T C 408.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.091;DP=36;Dels=0.00;FS=2.880;HRun=1;HaplotypeScore=3.5926;MQ=60.00;MQ0=0;MQRankSum=-0.493;QD=11.35;ReadPosRankSum=-0.653;VQSLOD=5.5824;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,20:36:99:439,0,361 15 41829230 41829230 A G exonic RPAP1 synonymous SNV RPAP1:NM_015540:exon2:c.T94C:p.L32L 0.39 0.15 0.39 0.45 0.52 0.53 0.4753 0.2106 0.3996 0.4840 0.4770 0.5134 0.4824 0.5357 0.42 0.23 0.52 0.41 0.46 rs721772 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4766 0.2079 0.4025 0.4892 0.4715 0.4720 0.5202 0.4861 0.5330 0.4177 0.2152 0.4258 0.5298 0.4632 0.4696 0.5097 0.5102 het 1816.29 135 15 41829230 . A G 1816.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.830;DP=135;DS;Dels=0.00;FS=18.063;HRun=0;HaplotypeScore=6.8895;MQ=59.52;MQ0=0;MQRankSum=-0.785;QD=13.45;ReadPosRankSum=0.459;VQSLOD=2.3669;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,61:135:99:1846,0,1918 15 41991315 41991315 A T exonic MGA nonsynonymous SNV MGA:NM_001080541:exon5:c.A2146T:p.T716S,MGA:NM_001164273:exon5:c.A2146T:p.T716S 0.76 0.51 0.83 0.89 0.83 0.84 0.8197 0.5596 0.8553 0.8892 0.8723 0.8336 0.8379 0.8323 0.75 0.56 0.83 0.74 . rs2178004 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.006 N 1.000 0.090 P 0.41 0.124 N 1.08 0.394 T 0.46 0.031 N 0.01 0.023 -0.944 0.421 T 0.000 0.000 T . . . -0.476 0.057 0.252 0.735 0.100 0.229 0.217 N c -0.838 -0.732 1.000 0.458 0.651 0.465 0 -0.188 0.126 0.780 0.262 -0.365 0.067 0.996 0.391 0.949 0.424 1.668 0.026 . ENSG00000272003.1 Artery_Tibial 0.8227 0.5481 0.8508 0.8842 0.8888 0.8662 0.8243 0.8432 0.8307 0.7600 0.5541 0.8461 0.8676 0.8725 0.8649 0.8325 0.8160 hom 569.76 22 15 41991315 . A T 569.76 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.90;VQSLOD=12.9407;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:48.14:603,48,0 15 42026764 42026764 C T exonic MGA synonymous SNV MGA:NM_001080541:exon12:c.C3888T:p.D1296D,MGA:NM_001164273:exon12:c.C3888T:p.D1296D 0.75 0.54 0.82 0.89 0.82 0.76 0.8016 0.5796 0.8491 0.8874 0.8443 0.8215 0.8100 0.7525 0.74 0.57 0.81 0.65 . rs1918314 COSM5420113 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7995 0.5581 0.8404 0.8701 0.8872 0.8354 0.8092 0.8165 0.7367 0.7484 0.5674 0.8365 0.8609 0.8690 0.8321 0.8112 0.7878 hom 861.82 35 15 42026764 . C T 861.82 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.15;MQ0=0;QD=24.62;VQSLOD=7.5191;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:66.21:895,66,0 15 42032383 42032383 C G exonic MGA nonsynonymous SNV MGA:NM_001080541:exon14:c.C4567G:p.P1523A,MGA:NM_001164273:exon14:c.C4567G:p.P1523A 0.3 0.21 0.46 0.19 0.38 0.34 0.3371 0.2333 0.4036 0.1847 0.4076 0.3610 0.3367 0.3069 0.31 0.23 0.35 0.22 . rs17677991 COSM4419270 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.023 0.481 D 0.657 0.510 P 0.138 0.481 B 0.006 0.323 N 0.586 0.333 P 0.805 0.203 L -2.08 0.948 D -3.02 0.626 D 0.251 0.406 -1.140 0.014 T 0.000 0.000 T . . . 2.279 0.335 18.03 0.918 0.205 0.952 0.635 D c -0.160 -0.030 0.985 0.307 0.672 0.522 0 4.22 0.490 1.713 0.373 0.042 0.156 1.000 0.715 0.986 0.517 8.768 0.337 . ENSG00000137877.8|ENSG00000137877.8|ENSG00000243708.4|ENSG00000137802.9|ENSG00000103966.5|ENSG00000103932.7|ENSG00000103966.5|ENSG00000137802.9|ENSG00000137802.9|ENSG00000092445.7|ENSG00000260814.2|ENSG00000103932.7|ENSG00000137877.8|ENSG00000103932.7|ENSG00000103932.7|ENSG00000137877.8|ENSG00000260814.2|ENSG00000137877.8|ENSG00000137802.9|ENSG00000243708.4|ENSG00000243789.6|ENSG00000103932.7|ENSG00000243708.4|ENSG00000137877.8|ENSG00000243708.4 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.3408 0.2353 0.4077 0.3589 0.1856 0.3995 0.3557 0.3634 0.3013 0.3256 0.2360 0.3902 0.3146 0.1905 0.3958 0.3716 0.3411 het 874.47 82 15 42032383 . C G 874.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.367;DP=82;Dels=0.00;FS=4.817;HRun=0;HaplotypeScore=3.5634;MQ=58.90;MQ0=0;MQRankSum=0.955;QD=10.66;ReadPosRankSum=0.513;VQSLOD=4.6811;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,34:82:99:904,0,1354 15 42041712 42041712 G A exonic MGA synonymous SNV MGA:NM_001080541:exon16:c.G5280A:p.K1760K,MGA:NM_001164273:exon17:c.G5907A:p.K1969K 0.7 0.37 0.81 0.89 0.82 0.76 0.7840 0.4302 0.8415 0.8868 0.8409 0.8166 0.7998 0.7415 0.7 0.45 0.81 0.63 . rs2695163 COSM5021830 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7919 0.4232 0.8399 0.8711 0.8873 0.8352 0.8100 0.8168 0.7416 0.7105 0.4348 0.8317 0.8609 0.8696 0.8323 0.8104 0.7816 hom 2459.14 76 15 42041712 . G A 2459.14 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=32.36;VQSLOD=9.5527;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2492,193,0 15 42109223 42109223 T C exonic MAPKBP1 synonymous SNV MAPKBP1:NM_001265611:exon14:c.T1701C:p.V567V,MAPKBP1:NM_014994:exon14:c.T1701C:p.V567V,MAPKBP1:NM_001128608:exon15:c.T1719C:p.V573V 0.77 0.95 0.81 0.32 0.87 0.86 0.8055 0.9291 0.7061 0.3224 0.8503 0.8527 0.8247 0.8432 0.88 0.93 0.85 0.8 0.72 rs1197689 COSM1129211;COSM4148751 1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7993 0.9316 0.7265 0.8491 0.3225 0.8491 0.8515 0.8230 0.8388 0.8376 0.9316 0.7601 0.8609 0.3443 0.8326 0.8420 0.8235 hom 4564.83 135 15 42109223 . T C 4564.83 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4027;MQ=59.04;MQ0=0;QD=33.81;VQSLOD=8.4154;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4564,358,0 15 42115747 42115747 G C exonic MAPKBP1 nonsynonymous SNV MAPKBP1:NM_014994:exon29:c.G3701C:p.R1234P,MAPKBP1:NM_001128608:exon30:c.G3719C:p.R1240P 0.23 0.037 0.41 0.18 0.35 0.31 0.3065 0.0878 0.3882 0.1766 0.3748 0.3437 0.3119 0.2770 0.25 0.095 0.33 0.18 0.34 rs3959569 COSM4148757;COSM4148756 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.193 0.214 T 0.0 0.345 B 0.001 0.386 B 0.639 0.059 N 1 0.090 P 1.5 0.380 L 1.18 0.377 T -0.44 0.146 N 0.036 0.023 -0.963 0.387 T 0.000 0.000 T . . . -0.332 0.066 0.560 0.585 0.059 0.114 0.164 N c -1.616 -1.616 0.145 0.173 0.744 0.983 0 -0.625 0.109 -0.221 0.091 -0.890 0.027 0.000 0.063 0.000 0.016 7.306 0.255 . ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137802.9|ENSG00000103932.7|ENSG00000137802.9|ENSG00000137802.9|ENSG00000137802.9|ENSG00000260814.2|ENSG00000137877.8|ENSG00000260814.2|ENSG00000103932.7|ENSG00000260814.2|ENSG00000137877.8|ENSG00000260814.2|ENSG00000103932.7|ENSG00000137877.8|ENSG00000103932.7|ENSG00000137877.8|ENSG00000062524.11|ENSG00000137877.8|ENSG00000103932.7|ENSG00000137802.9|ENSG00000243708.4|ENSG00000243789.6|ENSG00000260814.2|ENSG00000103932.7|ENSG00000243708.4|ENSG00000137877.8|ENSG00000243708.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.3133 0.0860 0.3905 0.3232 0.1761 0.3653 0.3409 0.3409 0.2733 0.2693 0.0934 0.3723 0.2815 0.1778 0.3577 0.3524 0.3113 het 1792.01 118 15 42115747 . G C 1792.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.664;DP=118;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6205;MQ=59.41;MQ0=0;MQRankSum=-1.519;QD=15.19;ReadPosRankSum=-1.142;VQSLOD=4.4577;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,64:118:99:1822,0,1285 15 42135988 42135988 C T exonic JMJD7-PLA2G4B;PLA2G4B synonymous SNV PLA2G4B:NM_001114633:exon11:c.C858T:p.D286D,JMJD7-PLA2G4B:NM_001198588:exon16:c.C1551T:p.D517D,JMJD7-PLA2G4B:NM_005090:exon16:c.C1551T:p.D517D 0.76 0.58 0.82 0.88 0.82 0.76 0.7971 0.6163 0.8488 0.8717 0.8404 0.8163 0.8049 0.7401 0.75 0.62 0.81 0.69 0.65 rs1672466 COSM3765811 1(kidney);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8036 0.6130 0.8480 0.8764 0.8733 0.8351 0.8096 0.8228 0.7396 0.7625 0.6216 0.8401 0.8609 0.8506 0.8330 0.8101 0.7929 hom 2790.80 90 15 42135988 . C T 2790.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.655;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0736;MQ=58.71;MQ0=0;MQRankSum=-1.617;QD=31.01;ReadPosRankSum=0.847;VQSLOD=5.7969;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,89:90:99:2824,228,0 15 42138456 42138456 G A exonic JMJD7-PLA2G4B;PLA2G4B synonymous SNV PLA2G4B:NM_001114633:exon17:c.G1656A:p.R552R,JMJD7-PLA2G4B:NM_001198588:exon22:c.G2349A:p.R783R,JMJD7-PLA2G4B:NM_005090:exon22:c.G2349A:p.R783R 0.24 0.33 0.21 0.018 0.33 0.26 0.2752 0.3188 0.1595 0.0189 0.3029 0.3207 0.3002 0.2672 0.32 0.32 0.32 0.24 0.25 rs1197669 COSM4417574 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2714 0.3133 0.1742 0.4013 0.0211 0.3057 0.3157 0.2925 0.2699 0.2873 0.3208 0.2165 0.4404 0.0240 0.2954 0.2947 0.2974 het 2963.93 239 15 42138456 . G A 2963.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.751;DP=239;DS;Dels=0.00;FS=1.581;HRun=1;HaplotypeScore=5.0834;MQ=59.52;MQ0=0;MQRankSum=1.124;QD=12.40;ReadPosRankSum=-0.544;VQSLOD=5.4498;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,121:239:99:2994,0,3111 15 42145936 42145936 G C exonic SPTBN5 nonsynonymous SNV SPTBN5:NM_016642:exon58:c.C9824G:p.A3275G 0.29 0.45 0.23 0.034 0.35 0.34 0.3848 0.4964 0.2570 0.0577 0.3959 0.4129 0.3778 0.3807 0.36 0.42 0.34 0.29 . rs1197660 COSM4148758 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.21 0.196 T 0.58 0.369 P 0.279 0.385 B 0.021 0.269 N 1.000 0.202 P 2.515 0.735 M 1.36 0.344 T -3.41 0.671 D 0.293 0.353 -0.921 0.454 T 0.000 0.000 T . . . 2.256 0.332 17.88 0.981 0.376 0.406 0.262 N c -0.304 -0.378 0.998 0.357 0.461 0.090 0 2.86 0.323 2.952 0.485 0.104 0.200 0.998 0.411 0.015 0.124 9.168 0.360 . ENSG00000137877.8|ENSG00000103932.7|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000272003.1|ENSG00000137877.8|ENSG00000103932.7|ENSG00000137877.8|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000243708.4|ENSG00000272003.1|ENSG00000137877.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3039 0.4471 0.1929 0.4023 0.0326 0.3395 0.3340 0.3252 0.3547 0.3422 0.4475 0.2303 0.4470 0.0309 0.3351 0.3217 0.3217 het 172.98 18 15 42145936 . G C 172.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.177;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=-0.177;QD=9.61;ReadPosRankSum=-1.236;VQSLOD=4.8357;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:203,0,233 15 42149596 42149596 C G exonic SPTBN5 nonsynonymous SNV SPTBN5:NM_016642:exon51:c.G8461C:p.G2821R 0.25 0.38 0.21 0.038 0.33 0.25 0.3473 0.4227 0.2454 0.0619 0.3902 0.3893 0.3401 0.2815 0.32 0.34 0.3 0.27 . rs1197675 COSM4998602 2(pancreas) . . . . . . . . . . . 0.694 0.042 T 0.29 0.306 B 0.139 0.319 B 0.655 0.105 N 1 0.090 P 1.5 0.380 L 0.69 0.517 T -2.1 0.478 N 0.057 0.040 -0.955 0.401 T 0.000 0.000 T . . . -0.169 0.078 1.269 0.289 0.015 0.051 0.107 N c -1.043 -1.078 0.958 0.283 0.563 0.310 0 2.42 0.286 0.568 0.232 -0.465 0.055 0.001 0.137 0.004 0.083 3.84 0.084 . ENSG00000137877.8|ENSG00000103932.7|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000243708.4|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2639 0.3526 0.1709 0.4102 0.0327 0.3036 0.3010 0.2874 0.2506 0.3025 0.3735 0.2297 0.4603 0.0321 0.3018 0.2921 0.2929 het 231.27 17 15 42149596 . C G 231.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.098;DP=17;Dels=0.00;FS=1.913;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.830;QD=13.60;ReadPosRankSum=1.708;VQSLOD=5.6205;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,10:17:99:261,0,218 15 42150888 42150888 G A exonic SPTBN5 nonsynonymous SNV SPTBN5:NM_016642:exon49:c.C8138T:p.T2713I 0.23 0.29 0.21 0.036 0.33 0.24 0.2903 0.3315 0.1715 0.0359 0.3363 0.3370 0.3075 0.2662 0.31 0.31 0.31 0.21 . rs890503 COSM86376 1(ovary);2(prostate);1(lung) . . . . . . . . . . . 0.016 0.518 D 0.523 0.357 P 0.212 0.357 B 0.000 0.477 D 0.986 0.246 P 0.895 0.225 L 0.89 0.456 T -2.22 0.498 N 0.095 0.095 -0.959 0.393 T 0.000 0.000 T . . . 2.211 0.327 17.58 0.716 0.094 0.911 0.526 D c -0.421 -0.378 0.999 0.383 0.563 0.310 0 4.03 0.459 5.533 0.667 0.900 0.413 1.000 0.715 0.031 0.148 10.490 0.437 . ENSG00000137877.8|ENSG00000103932.7|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000137877.8|ENSG00000250379.1|ENSG00000137802.9|ENSG00000174171.4|ENSG00000103966.5|ENSG00000137877.8|ENSG00000103932.7|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000243708.4|ENSG00000272003.1|ENSG00000137877.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2684 0.3087 0.1731 0.4077 0.0305 0.3131 0.3119 0.2877 0.2514 0.2828 0.3137 0.2189 0.4338 0.0345 0.3010 0.2873 0.2943 het 267.18 27 15 42150888 . G A 267.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.171;DP=27;Dels=0.00;FS=1.507;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=-0.854;QD=9.90;ReadPosRankSum=0.561;VQSLOD=6.2035;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:297,0,406 15 42166500 42166500 C T exonic SPTBN5 nonsynonymous SNV SPTBN5:NM_016642:exon24:c.G4679A:p.R1560H 0.4 0.044 0.51 0.7 0.45 0.42 0.4465 0.1054 0.5717 0.7239 0.4616 0.4415 0.4476 0.4285 0.33 0.11 0.44 0.27 . rs12593397 . . . . . . . . . . . . . 0.439 0.093 T 0.0 0.026 B 0.001 0.040 B 0.462 0.049 N 1 0.090 P -0.11 0.046 N 0.69 0.517 T -0.4 0.138 N 0.052 0.034 -0.963 0.387 T 0.000 0.000 T . . . -0.322 0.067 0.592 0.551 0.052 0.004 0.019 N c -1.513 -1.558 0.543 0.213 0.563 0.310 0 -5.21 0.026 0.337 0.194 -1.511 0.010 0.094 0.225 0.003 0.074 4.544 0.114 . ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000243708.4|ENSG00000103932.7|ENSG00000243708.4|ENSG00000272003.1|ENSG00000137877.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4525 0.0998 0.5677 0.3892 0.7248 0.4540 0.4418 0.4654 0.4076 0.3756 0.1134 0.5359 0.3609 0.7246 0.4636 0.4581 0.4324 het 928.45 94 15 42166500 . C T 928.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.407;DP=94;Dels=0.00;FS=2.780;HRun=0;HaplotypeScore=4.8561;MQ=59.16;MQ0=0;MQRankSum=-1.381;QD=9.88;ReadPosRankSum=0.760;VQSLOD=4.6030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,39:94:99:958,0,1498 15 42168400 42168400 C T exonic SPTBN5 nonsynonymous SNV SPTBN5:NM_016642:exon21:c.G4034A:p.R1345H 0.16 0.046 0.19 0.048 0.31 0.24 0.2487 0.0860 0.1481 0.0484 0.2806 0.3127 0.2820 0.2455 0.24 0.088 0.31 0.16 . rs2290559 COSM4416635 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.116 0.284 T 0.948 0.516 P 0.493 0.456 P 0.428 0.128 N 1 0.090 P 0 0.065 N 0.77 0.496 T -0.74 0.208 N 0.101 0.104 -0.986 0.335 T 0.000 0.000 T . . . 2.824 0.400 21.5 0.996 0.758 0.684 0.335 D c -0.339 -0.381 0.995 0.340 0.563 0.310 0 3.0 0.336 4.160 0.577 -0.915 0.026 0.989 0.365 0.000 0.016 14.227 0.653 . ENSG00000137877.8|ENSG00000103932.7|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103966.5|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8|ENSG00000103932.7|ENSG00000243708.4|ENSG00000272003.1|ENSG00000137877.8|ENSG00000137877.8|ENSG00000137877.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Pancreas|Prostate|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood 0.2463 0.0804 0.1618 0.4001 0.0485 0.2864 0.3039 0.2723 0.2472 0.2111 0.0838 0.2005 0.4238 0.05 0.2739 0.2813 0.2587 het 964.07 52 15 42168400 . C T 964.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.282;DP=52;Dels=0.00;FS=7.012;HRun=0;HaplotypeScore=2.6342;MQ=59.47;MQ0=0;MQRankSum=0.162;QD=18.54;ReadPosRankSum=1.757;VQSLOD=3.9422;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,37:52:99:994,0,359 15 42171537 42171537 A G exonic SPTBN5 nonsynonymous SNV SPTBN5:NM_016642:exon16:c.T3103C:p.C1035R 0.88 0.86 0.89 0.97 0.87 0.81 0.8744 0.8523 0.9276 0.9843 0.8957 0.8678 0.8724 0.8111 0.86 0.85 0.86 0.87 . rs1197683 COSM4148762 1(thyroid) . . . . . . . . . . . 0.82 0.030 T . . . . . . 0.853 0.089 N 1 0.090 P . . . -0.5 0.705 T 1.87 0.005 N 0.031 0.012 -0.956 0.400 T 0.000 0.000 T . . . -1.057 0.030 0.012 0.379 0.025 0.002 0.011 N c -0.874 -0.966 0.891 0.258 0.563 0.310 0 2.82 0.319 1.083 0.302 0.104 0.200 0.002 0.151 0.001 0.043 4.971 0.134 . . . 0.8782 0.8538 0.9273 0.9189 0.9853 0.8976 0.8593 0.8943 0.8159 0.8758 0.8516 0.9129 0.9073 0.9846 0.8966 0.8715 0.8596 hom 3046.06 108 15 42171537 . A G 3046.06 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.82;MQ0=0;QD=28.20;VQSLOD=7.7115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3079,247,0 15 42178155 42178155 T C exonic SPTBN5 nonsynonymous SNV SPTBN5:NM_016642:exon7:c.A1298G:p.H433R 0.87 0.87 0.89 0.98 0.85 0.79 0.8543 0.8616 0.9123 0.9825 0.8443 0.8477 0.8406 0.7897 0.85 0.86 0.84 0.83 . rs1210795 COSM3754307 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.929 0.023 T . . . . . . 0.611 0.057 N 1 0.090 P . . . 0.99 0.418 T 2.57 0.002 N 0.012 0.001 -0.983 0.344 T 0.000 0.000 T . . . -3.395 0.000 0.001 0.100 0.001 0.003 0.014 N c -1.127 -1.222 0.992 0.325 0.581 0.326 0 1.62 0.227 0.042 0.137 -1.075 0.019 0.001 0.137 0.930 0.404 8.953 0.348 . . . 0.8498 0.8590 0.9071 0.9056 0.9851 0.8323 0.8258 0.8595 0.7819 0.8528 0.8648 0.8926 0.8974 0.9877 0.8270 0.8359 0.8255 hom 244.68 10 15 42178155 . T C 244.68 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=24.47;VQSLOD=12.6818;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:278,21,0 15 42211486 42211486 A G exonic EHD4 synonymous SNV EHD4:NM_139265:exon4:c.T846C:p.F282F 0.45 0.69 0.38 0.11 0.5 0.49 0.4561 0.6464 0.3065 0.0928 0.5038 0.4842 0.4758 0.4976 0.54 0.64 0.49 0.52 0.39 rs1704396 COSM4417843 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4465 0.6464 0.3189 0.5006 0.0897 0.5094 0.4815 0.4491 0.4959 0.5019 0.6372 0.3842 0.5232 0.0901 0.5006 0.4751 0.4898 het 1471.49 106 15 42211486 . A G 1471.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.676;DP=106;Dels=0.00;FS=7.488;HRun=0;HaplotypeScore=1.9969;MQ=59.78;MQ0=0;MQRankSum=0.850;QD=13.88;ReadPosRankSum=1.166;VQSLOD=4.4634;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,54:106:99:1501,0,1445 15 42278168 42278168 C T exonic PLA2G4E nonsynonymous SNV PLA2G4E:NM_001206670:exon18:c.G2071A:p.E691K 0.0012 0.0008 0.0058 . 0.001 . 0.0018 0.0011 0.0045 0 0 0.0022 0.0061 0.0006 0.0018 0.0005 0.0025 0.011 . rs118171374 COSM5537150 1(NS) . . . . . . . . . . . 0.244 0.174 T 0.327 0.314 B 0.048 0.236 B 0.861 0.089 N 1 0.090 N 1.79 0.469 L 2.69 0.123 T -1.32 0.330 N 0.111 0.186 -0.973 0.365 T 0.015 0.058 T 0.014 0.339 T 1.919 0.292 15.71 0.988 0.456 0.037 0.089 N c -0.922 -0.954 0.504 0.210 0.554 0.283 0 -0.763 0.104 -1.130 0.033 -0.031 0.126 0.000 0.063 0.024 0.140 9.987 0.408 Acyl transferase/acyl hydrolase/lysophospholipase|Lysophospholipase\x2c catalytic domain . . 0.0013 0.0008 0.0018 0.0003 0 0 0.0019 0.0025 0.0004 0.0008 0.0007 0.0024 0 0 0 0.0012 0 het 349.70 25 15 42278168 . C T 349.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.300;DP=25;Dels=0.00;FS=6.402;HRun=1;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.361;QD=13.99;ReadPosRankSum=-0.804;VQSLOD=4.6280;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,15:25:99:380,0,246 15 42281719 42281719 G A exonic PLA2G4E synonymous SNV PLA2G4E:NM_001206670:exon15:c.C1617T:p.G539G 0.42 0.69 0.23 0.29 0.28 0.49 0.3314 0.6045 0.1995 0.3039 0.3741 0.2746 0.3224 0.4832 0.37 0.58 0.26 0.5 . rs1668579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3175 0.5999 0.1917 0.2264 0.3013 0.3800 0.2709 0.2976 0.4801 0.3738 0.5894 0.1957 0.2219 0.3096 0.3645 0.2715 0.3582 het 430.45 35 15 42281719 . G A 430.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.779;DP=35;Dels=0.00;FS=1.431;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.182;QD=12.30;ReadPosRankSum=-0.149;VQSLOD=6.6663;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,18:35:99:460,0,488 15 42287578 42287578 G A exonic PLA2G4E synonymous SNV PLA2G4E:NM_001206670:exon12:c.C1227T:p.T409T 0.66 0.51 0.68 0.57 0.85 0.74 0.7695 0.5544 0.6395 0.5577 0.7884 0.8591 0.7884 0.7275 0.78 0.59 0.87 0.61 . rs1668586 COSM3999525 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7680 0.5507 0.6540 0.8367 0.5595 0.7803 0.8658 0.7935 0.7271 0.7389 0.5544 0.6790 0.8278 0.5378 0.7900 0.8558 0.7668 hom 1939.63 57 15 42287578 . G A 1939.63 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=34.03;VQSLOD=9.0314;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1973,153,0 15 42434254 42434254 G A exonic PLA2G4F synonymous SNV PLA2G4F:NM_213600:exon20:c.C2478T:p.N826N 0.4 0.4 0.41 0.35 0.55 0.29 0.4677 0.4139 0.3334 0.3308 0.5959 0.5348 0.5 0.3432 0.49 0.41 0.53 0.43 0.56 rs655427 COSM3754310 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4688 0.4166 0.3474 0.5448 0.3314 0.5989 0.5334 0.4960 0.3460 0.4972 0.4143 0.3894 0.5530 0.3302 0.5986 0.5453 0.4898 het 1128.90 99 15 42434254 . G A 1128.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.320;DP=99;Dels=0.00;FS=5.510;HRun=0;HaplotypeScore=2.5315;MQ=59.30;MQ0=0;MQRankSum=0.216;QD=11.40;ReadPosRankSum=-1.762;VQSLOD=5.1351;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,41:99:99:1159,0,1559 15 42434837 42434837 T C exonic PLA2G4F nonsynonymous SNV PLA2G4F:NM_213600:exon19:c.A2218G:p.M740V 0.81 0.89 0.76 0.87 0.66 0.85 0.7457 0.8508 0.8196 0.8811 0.7919 0.6724 0.7102 0.8359 0.73 0.84 0.67 0.85 0.61 rs1356410 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.740 0.064 N 1 0.090 P -0.69 0.019 N . . . . . . 0.035 0.015 -1.019 0.241 T 0.000 0.000 T . . . -1.157 0.026 0.008 0.548 0.051 0.016 0.051 N c -1.588 -1.646 1.000 0.747 0.487 0.133 0 -9.38 0.005 -1.356 0.027 0.158 0.243 0.000 0.063 0.592 0.287 1.826 0.029 Acyl transferase/acyl hydrolase/lysophospholipase|Lysophospholipase\x2c catalytic domain . . 0.7447 0.8543 0.8063 0.5992 0.8798 0.7900 0.6724 0.7138 0.8284 0.7555 0.8464 0.7715 0.6026 0.8809 0.7826 0.6865 0.7280 het 1255.65 103 15 42434837 . T C 1255.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.379;DP=103;Dels=0.00;FS=4.941;HRun=0;HaplotypeScore=3.5751;MQ=59.23;MQ0=0;MQRankSum=0.010;QD=12.19;ReadPosRankSum=1.052;VQSLOD=5.4340;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1286,0,1392 15 42459034 42459034 T C exonic VPS39 synonymous SNV VPS39:NM_015289:exon14:c.A1455G:p.L485L,VPS39:NM_001301138:exon15:c.A1488G:p.L496L 0.4 0.74 0.49 0.18 0.13 0.37 0.2447 0.6452 0.5175 0.1786 0.1306 0.1344 0.1861 0.3305 0.3 0.63 0.14 0.45 0.11 rs1619030 COSM3754312;COSM3754313 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2461 0.6561 0.4889 0.1837 0.1810 0.1279 0.1339 0.2210 0.3309 0.2874 0.6429 0.4415 0.2020 0.1782 0.1383 0.1276 0.1806 het 2517.22 161 15 42459034 . T C 2517.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.364;DP=161;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=5.4251;MQ=59.29;MQ0=0;MQRankSum=0.171;QD=15.63;ReadPosRankSum=-0.076;VQSLOD=5.3263;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,85:161:99:2547,0,2112 15 42568547 42568547 C G exonic GANC nonsynonymous SNV GANC:NM_001301410:exon2:c.C31G:p.L11V,GANC:NM_198141:exon2:c.C31G:p.L11V,GANC:NM_001301409:exon3:c.C31G:p.L11V 0.95 0.93 0.99 0.94 1. 0.93 0.9837 0.9384 0.9952 0.9474 0.9988 0.9984 0.9933 0.9565 0.98 0.94 1. 0.95 0.57 rs8043515 COSM5461510 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.042 0.239 N 1 0.090 P -0.345 0.033 N 2.14 0.194 T 0.5 0.090 N 0.19 0.285 -0.986 0.336 T 0.000 0.000 T . . . -0.533 0.054 0.182 0.647 0.074 0.034 0.085 N c -1.038 -0.833 1.000 0.410 0.660 0.490 0 1.0 0.189 2.091 0.411 0.101 0.200 1.000 0.715 0.998 0.697 6.557 0.215 . . . 0.9857 0.9375 0.9958 0.9978 0.9479 0.9987 0.9988 0.9906 0.9570 0.9784 0.9368 0.9952 0.9967 0.9536 0.9989 0.9986 0.9888 hom 1194.05 44 15 42568547 . C G 1194.05 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=27.14;VQSLOD=6.6915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:90.29:1227,90,0 15 42570718 42570718 A G exonic GANC nonsynonymous SNV GANC:NM_001301410:exon3:c.A131G:p.Q44R,GANC:NM_198141:exon3:c.A131G:p.Q44R,GANC:NM_001301409:exon4:c.A131G:p.Q44R 0.64 0.34 0.63 0.84 0.87 0.64 0.7816 0.4294 0.6723 0.8411 0.8694 0.8665 0.8216 0.6681 0.72 0.44 0.86 0.61 0.89 rs8024732 COSM3754314 1(large_intestine) . . . . . . . . . . . 1.0 0.030 T 0.0 0.026 B 0.001 0.040 B 0.024 0.262 N 0.911 0.295 P -0.375 0.030 N 2.32 0.166 T 2.46 0.021 N 0.112 0.176 -0.981 0.349 T 0.000 0.000 T . . . -2.231 0.005 0.001 0.470 0.038 0.109 0.161 N c -1.375 -1.268 0.829 0.246 0.706 0.609 0 -2.85 0.054 -0.192 0.095 -0.177 0.105 0.957 0.332 0.268 0.231 10.972 0.465 . ENSG00000180979.5|ENSG00000180979.5|ENSG00000166887.11|ENSG00000214013.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000258461.1|ENSG00000092529.18 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Nerve_Tibial|Pancreas|Spleen|Thyroid|Whole_Blood|Whole_Blood 0.7846 0.4195 0.6864 0.8169 0.8399 0.8722 0.8667 0.8000 0.6650 0.7395 0.4338 0.6983 0.7967 0.8420 0.8615 0.8725 0.8310 het 1359.35 138 15 42570718 . A G 1359.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.981;DP=138;Dels=0.00;FS=2.198;HRun=2;HaplotypeScore=1.4972;MQ=59.73;MQ0=0;MQRankSum=0.681;QD=9.85;ReadPosRankSum=0.486;VQSLOD=6.6148;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,63:138:99:1389,0,1890 15 42579948 42579948 T C exonic GANC synonymous SNV GANC:NM_198141:exon4:c.T261C:p.N87N,GANC:NM_001301409:exon5:c.T261C:p.N87N 0.87 0.63 0.98 0.94 1. 0.93 0.9625 0.7063 0.9873 0.9469 0.9988 0.9978 0.9835 0.9565 0.9 0.72 1. 0.85 0.98 rs8037627 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9691 0.7002 0.9872 0.9950 0.9479 0.9987 0.9982 0.9826 0.9569 0.9118 0.7041 0.9833 0.9934 0.9524 0.9989 0.9979 0.9786 hom 1746.98 53 15 42579948 . T C 1746.98 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=58.09;MQ0=0;QD=32.35;VQSLOD=9.0004;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1780,144,0 15 42631928 42631928 T C exonic GANC synonymous SNV GANC:NM_198141:exon17:c.T1905C:p.A635A 0.094 0.14 0.062 0.002 0.085 0.16 0.0932 0.1357 0.0476 0.0019 0.1034 0.0795 0.1046 0.1967 0.1 0.14 0.081 0.076 0.025 rs36023127 COSM54399 1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0917 0.1363 0.0448 0.1279 0.0016 0.0989 0.0793 0.0938 0.1985 0.0898 0.1303 0.0501 0.1523 0.0018 0.1037 0.0736 0.0888 het 1873.33 151 15 42631928 . T C 1873.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.209;DP=151;DS;Dels=0.00;FS=6.997;HRun=1;HaplotypeScore=6.4792;MQ=58.77;MQ0=0;MQRankSum=2.710;QD=12.41;ReadPosRankSum=-1.000;VQSLOD=3.3195;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,75:151:99:1903,0,2184 15 42631976 42631976 G A exonic GANC synonymous SNV GANC:NM_198141:exon17:c.G1953A:p.K651K 0.094 0.14 0.062 0.002 0.085 0.16 0.0932 0.1358 0.0476 0.0019 0.1034 0.0794 0.1049 0.1967 0.1 0.14 0.081 0.076 0.025 rs35039186 COSM54400 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0916 0.1362 0.0448 0.1280 0.0016 0.0989 0.0792 0.0938 0.1985 0.0896 0.1303 0.0480 0.1523 0.0019 0.1029 0.0733 0.0890 het 1194.15 109 15 42631976 . G A 1194.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.265;DP=109;Dels=0.00;FS=2.857;HRun=2;HaplotypeScore=6.4319;MQ=58.24;MQ0=0;MQRankSum=0.929;QD=10.96;ReadPosRankSum=1.605;VQSLOD=3.8254;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,49:109:99:1224,0,1762 15 42643529 42643529 T C exonic GANC nonsynonymous SNV GANC:NM_198141:exon23:c.T2534C:p.F845S 0.38 0.74 0.38 0.16 0.13 0.36 0.2251 0.6423 0.3304 0.1588 0.1307 0.1338 0.1788 0.3322 0.3 0.63 0.14 0.41 0.11 rs7181742 COSM3754315 1(large_intestine) . . . . . . . . . . . 0.639 0.050 T 0.0 0.026 B 0.0 0.013 B 0.027 0.259 N 0.000 0.588 P -1.59 0.004 N -2.03 0.856 D 2.69 0.002 N 0.023 0.507 -0.925 0.449 T 0.000 0.000 T . . . 1.729 0.269 14.57 0.903 0.190 0.520 0.288 D c -0.929 -0.653 0.884 0.257 0.651 0.465 0 3.48 0.388 2.122 0.414 -0.526 0.049 1.000 0.715 0.731 0.317 4.157 0.097 . ENSG00000180979.5|ENSG00000180979.5|ENSG00000092529.18|ENSG00000180979.5|ENSG00000166887.11|ENSG00000214013.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000258461.1|ENSG00000092529.18 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Nerve_Tibial|Pancreas|Spleen|Thyroid|Whole_Blood|Whole_Blood 0.2211 0.6533 0.3143 0.1821 0.1601 0.1276 0.1334 0.2026 0.3333 0.2804 0.6369 0.3046 0.2020 0.1557 0.1385 0.1273 0.1714 het 1408.11 96 15 42643529 . T C 1408.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.984;DP=96;Dels=0.00;FS=3.059;HRun=0;HaplotypeScore=1.9933;MQ=58.98;MQ0=0;MQRankSum=-0.891;QD=14.67;ReadPosRankSum=0.150;VQSLOD=6.0823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,50:96:99:1438,0,1313 15 42652099 42652099 T C exonic CAPN3 synonymous SNV CAPN3:NM_000070:exon1:c.T96C:p.T32T,CAPN3:NM_024344:exon1:c.T96C:p.T32T,CAPN3:NM_173087:exon1:c.T96C:p.T32T 0.094 0.14 0.062 0.002 0.085 0.16 0.0932 0.1373 0.0477 0.0018 0.1034 0.0795 0.1046 0.1960 0.1 0.14 0.081 0.076 0.0082 rs1801496 . . Benign|Likely benign|Likely benign not_specified|Limb-girdle_muscular_dystrophy\x2c_type_2A|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000078104.7|RCV000265929.1|RCV000365906.1 MedGen|MedGen:OMIM:Orphanet|MedGen CN169374|C1869123:253600:ORPHA267|CN239352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0914 0.1357 0.0448 0.1277 0.0016 0.0989 0.0790 0.0937 0.1979 0.0898 0.1304 0.0501 0.1523 0.0019 0.1040 0.0734 0.0896 het 2341.10 180 15 42652099 . T C 2341.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.970;DP=180;Dels=0.00;FS=8.886;HRun=1;HaplotypeScore=4.3857;MQ=58.60;MQ0=0;MQRankSum=0.953;QD=13.01;ReadPosRankSum=1.594;VQSLOD=4.1436;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,89:180:99:2371,0,2469 15 42681199 42681199 G A exonic CAPN3 nonsynonymous SNV CAPN3:NM_000070:exon5:c.G706A:p.A236T,CAPN3:NM_024344:exon5:c.G706A:p.A236T,CAPN3:NM_173087:exon5:c.G706A:p.A236T 0.27 0.75 0.092 0.11 0.048 0.15 0.1238 0.6354 0.0808 0.1231 0.0989 0.0507 0.0804 0.1396 0.24 0.62 0.05 0.27 0.049 rs1801449 COSM5425257;COSM5425256;COSM5425259;COSM5425258 2(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign|Benign|Benign not_specified|Limb-girdle_muscular_dystrophy\x2c_type_2A|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000078102.9|RCV000346923.1|RCV000399161.1 MedGen|MedGen:OMIM:Orphanet|MedGen CN169374|C1869123:253600:ORPHA267|CN239352 . . . . . . 0.874 0.026 T 0.0 0.067 B 0.0 0.104 B 0.000 0.843 N 0.964 0.260 P -1.12 0.009 N -2.35 0.881 D 1.18 0.011 N 0.113 0.250 -0.964 0.385 T 0.000 0.000 T . . . 1.785 0.275 14.90 0.877 0.169 0.256 0.225 N c -0.550 -0.283 1.000 0.747 0.554 0.283 0 5.41 0.782 5.238 0.650 0.240 0.266 1.000 0.715 1.000 0.888 11.489 0.494 Peptidase C2\x2c calpain\x2c catalytic domain ENSG00000214013.5|ENSG00000180979.5|ENSG00000180979.5 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Thyroid 0.1122 0.6448 0.0758 0.1045 0.1274 0.0950 0.0453 0.0906 0.1399 0.2248 0.6290 0.0694 0.1126 0.1279 0.0994 0.0498 0.0998 het 2015.19 159 15 42681199 . G A 2015.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.812;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4610;MQ=59.71;MQ0=0;MQRankSum=1.542;QD=12.67;ReadPosRankSum=-1.390;VQSLOD=5.1957;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,79:159:99:2045,0,2318 15 42734320 42734320 C T exonic ZNF106 synonymous SNV ZNF106:NM_001284306:exon6:c.G1200A:p.V400V,ZNF106:NM_022473:exon7:c.G3645A:p.V1215V,ZNF106:NM_001284307:exon8:c.G1329A:p.V443V 0.049 0.0045 0.053 0.001 0.072 0.13 0.0719 0.0133 0.0368 0.0010 0.1025 0.0694 0.0848 0.1681 0.052 0.017 0.07 0.011 0.033 rs61753567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0728 0.0122 0.0344 0.0782 0.0012 0.0984 0.0714 0.0752 0.1694 0.0522 0.0127 0.0430 0.0960 0.0012 0.1030 0.0664 0.0825 het 2266.63 247 15 42734320 . C T 2266.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.139;DP=247;DS;Dels=0.00;FS=1.621;HRun=0;HaplotypeScore=9.1059;MQ=59.09;MQ0=0;MQRankSum=2.356;QD=9.18;ReadPosRankSum=-1.042;VQSLOD=3.0420;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:148,99:247:99:2297,0,3805 15 42742435 42742435 T C exonic ZNF106 nonsynonymous SNV ZNF106:NM_022473:exon2:c.A1966G:p.M656V 0.058 0.036 0.053 0.002 0.075 0.13 0.0763 0.0414 0.0388 0.0018 0.1031 0.0733 0.0870 0.1643 0.063 0.04 0.075 0.011 0.033 rs34792942 . . . . . . . . . . . . . 0.365 0.117 T 0.002 0.090 B 0.004 0.093 B 0.355 0.137 N 1.000 0.221 N 0.835 0.211 L 1.54 0.301 T -0.34 0.160 N 0.025 0.067 -1.010 0.270 T 0.003 0.011 T . . . -2.153 0.006 0.001 0.500 0.042 0.287 0.234 N c -1.012 -0.984 1.000 0.401 0.707 0.730 0 -1.54 0.081 0.440 0.212 0.144 0.231 0.205 0.241 0.676 0.304 9.503 0.380 . ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000258461.1|ENSG00000092529.18|ENSG00000092529.18|ENSG00000180979.5|ENSG00000166887.11|ENSG00000214013.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000180979.5|ENSG00000092529.18|ENSG00000180979.5|ENSG00000180979.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Pancreas|Pituitary|Small_Intestine_Terminal_Ileum|Thyroid 0.0769 0.0418 0.0366 0.0881 0.0017 0.0987 0.0754 0.0772 0.1666 0.0612 0.0361 0.0489 0.1093 0.0012 0.1036 0.0705 0.0845 het 3871.22 230 15 42742435 . T C 3871.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.769;DP=230;Dels=0.00;FS=0.484;HRun=0;HaplotypeScore=3.8813;MQ=59.37;MQ0=0;MQRankSum=1.135;QD=16.83;ReadPosRankSum=0.534;VQSLOD=5.4579;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:112,118:230:99:3302,0,2794 15 42820589 42820589 G A exonic SNAP23 synonymous SNV SNAP23:NM_003825:exon6:c.G396A:p.T132T 0.28 0.66 0.21 0.0079 0.22 0.17 0.2377 0.5894 0.1517 0.0036 0.1968 0.2360 0.2269 0.2229 0.36 0.58 0.24 0.33 0.2 rs1060291 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2291 0.5945 0.1570 0.3075 0.0031 0.1913 0.2363 0.2509 0.2247 0.3120 0.5957 0.1906 0.33 0.0037 0.1992 0.2184 0.2346 het 2237.53 130 15 42820589 . G A 2237.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.409;DP=130;Dels=0.00;FS=4.344;HRun=0;HaplotypeScore=4.4723;MQ=60.00;MQ0=0;MQRankSum=-0.477;QD=17.21;ReadPosRankSum=-0.024;VQSLOD=4.5839;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,79:130:99:2268,0,1189 15 43317071 43317071 T C exonic UBR1 nonsynonymous SNV UBR1:NM_174916:exon25:c.A2695G:p.I899V 0.013 0.0015 0.0086 . 0.021 0.037 0.0194 0.0061 0.0075 0.0001 0.0153 0.0253 0.0143 0.0247 0.022 0.0048 0.03 0.022 0.025 rs35069201 . . Benign not_specified RCV000253719.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.174 0.173 N 1 0.810 D -1.83 0.003 N 0.82 0.481 T 0.15 0.053 N 0.104 0.109 -0.995 0.312 T 0.009 0.031 T . . . -1.033 0.031 0.014 0.411 0.029 0.279 0.232 N c -1.227 -1.023 0.762 0.235 0.722 0.854 0 -2.07 0.068 0.154 0.160 -0.700 0.038 0.941 0.324 0.947 0.422 2.343 0.040 . . . 0.0201 0.0069 0.0077 0.0119 0.0001 0.0142 0.0294 0.0193 0.0244 0.0164 0.0073 0.0072 0.0066 0 0.0077 0.0258 0.0224 het 3001.59 240 15 43317071 . T C 3001.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.347;DP=240;Dels=0.00;FS=2.194;HRun=0;HaplotypeScore=6.9753;MQ=59.09;MQ0=0;MQRankSum=-1.492;QD=12.51;ReadPosRankSum=-0.347;VQSLOD=3.4781;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,114:240:99:3032,0,3384 15 43712823 43712823 C T exonic TP53BP1 nonsynonymous SNV TP53BP1:NM_001141979:exon21:c.G4361A:p.R1454Q,TP53BP1:NM_001141980:exon21:c.G4361A:p.R1454Q,TP53BP1:NM_005657:exon21:c.G4346A:p.R1449Q 0.0004 . . . 0.002 . 0.0009 0.0005 0.0003 0 0 0.0015 0 0.0001 0.0013 . 0.002 . . rs28903077 . . . . . . . . . . . . . 0.015 0.531 D 0.999 0.764 D 0.978 0.725 D 0.018 0.276 N 1 0.090 N 1.87 0.498 L 3.68 0.042 T -1.16 0.303 N 0.333 0.394 -0.986 0.335 T 0.027 0.117 T 0.007 0.184 T 4.441 0.595 24.2 0.999 0.996 0.914 0.533 D c 0.401 0.407 1.000 0.403 0.707 0.730 0 5.45 0.796 4.496 0.598 0.892 0.403 0.973 0.343 0.816 0.342 14.178 0.649 . . . 0.0009 0.0004 0.0005 0.0001 0 0 0.0018 0.0009 0.0002 0.0005 0.0002 0 0 0 0 0.0009 0.0010 het 1425.04 120 15 43712823 . C T 1425.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.253;DP=120;Dels=0.00;FS=1.478;HRun=2;HaplotypeScore=6.6496;MQ=59.18;MQ0=0;MQRankSum=0.575;QD=11.88;ReadPosRankSum=1.911;VQSLOD=4.5800;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,53:120:99:1455,0,1653 15 44120559 44120559 T G exonic WDR76 nonsynonymous SNV WDR76:NM_001167941:exon2:c.T265G:p.S89A,WDR76:NM_024908:exon2:c.T457G:p.S153A 0.83 0.71 0.9 1. 0.81 0.79 0.8332 0.7359 0.9050 0.9985 0.8870 0.8241 0.8538 0.7691 0.79 0.74 0.82 0.84 0.81 rs678084 COSM3754339 1(large_intestine) . . . . . . . . . . . 0.061 0.524 T 0.0 0.026 B 0.0 0.013 B 0.062 0.221 N 1 0.090 P 0.69 0.170 N -1.58 0.822 D -0.47 0.158 N 0.082 0.075 -1.011 0.267 T 0.000 0.000 T . . . 1.561 0.249 13.64 0.977 0.352 0.024 0.068 N c -0.761 -0.637 1.000 0.747 0.706 0.609 0 2.54 0.295 1.406 0.340 0.071 0.179 0.980 0.350 0.934 0.407 3.283 0.065 . ENSG00000242866.5|ENSG00000166763.7|ENSG00000242866.5|ENSG00000242866.5|ENSG00000140265.8|ENSG00000104055.10|ENSG00000166763.7|ENSG00000140265.8|ENSG00000242866.5|ENSG00000168806.6|ENSG00000159495.7|ENSG00000242866.5|ENSG00000140265.8|ENSG00000242866.5|ENSG00000242866.5|ENSG00000242866.5|ENSG00000166763.7|ENSG00000242866.5|ENSG00000242866.5|ENSG00000166763.7|ENSG00000242866.5|ENSG00000140265.8|ENSG00000166763.7|ENSG00000242866.5|ENSG00000242866.5|ENSG00000140265.8|ENSG00000166763.7|ENSG00000221792.1|ENSG00000140264.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.8391 0.7364 0.8979 0.8076 0.9982 0.8853 0.8220 0.8316 0.7725 0.8240 0.7435 0.8831 0.8278 0.9988 0.8829 0.8340 0.8354 het 1546.87 115 15 44120559 . T G 1546.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.703;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0031;MQ=59.04;MQ0=0;MQRankSum=-0.076;QD=13.45;ReadPosRankSum=-1.463;VQSLOD=4.2982;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,58:115:99:1577,0,1483 15 44855454 44855454 C T exonic SPG11 synonymous SNV SPG11:NM_001160227:exon38:c.G6858A:p.K2286K,SPG11:NM_025137:exon40:c.G7197A:p.K2399K 0.0022 0.0015 . . 0.0089 . 0.0064 0.0030 0.0010 0 0.0029 0.0104 0.0011 0.0013 0.0089 0.0016 0.013 0.011 0.0082 rs61732733 . . Benign|Benign Spastic_paraplegia_11\x2c_autosomal_recessive|not_specified RCV000205885.3|RCV000434779.1 MedGen:OMIM:Orphanet|MedGen C1858479:604360:ORPHA2822|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0068 0.0032 0.0011 0.0009 0 0.0020 0.0131 0.0053 0.0014 0.0071 0.0030 0.0012 0.0033 0 0.0011 0.0121 0.0071 het 1397.72 114 15 44855454 . C T 1397.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.662;DP=114;Dels=0.00;FS=1.569;HRun=3;HaplotypeScore=0.6651;MQ=59.63;MQ0=0;MQRankSum=0.595;QD=12.26;ReadPosRankSum=-0.028;VQSLOD=6.1273;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,55:114:99:1428,0,1559 15 45047573 45047573 C T exonic TRIM69 nonsynonymous SNV TRIM69:NM_182985:exon2:c.C482T:p.T161M 0.72 0.59 0.74 0.77 0.85 0.69 0.7998 0.6439 0.7297 0.7737 0.8678 0.8497 0.8157 0.7304 0.78 0.65 0.84 0.71 0.78 rs3100139 COSM5420317 1(pancreas) . . . . . . . . . . . 0.196 0.207 T 0.218 0.285 B 0.032 0.208 B 0.728 0.099 N 0.000 0.810 P 1.5 0.380 L 1.14 0.384 T -0.75 0.210 N 0.051 0.044 -1.033 0.196 T 0.000 0.000 T . . . 0.939 0.184 10.31 0.830 0.140 0.127 0.172 N c -1.115 -1.053 0.001 0.073 0.693 0.558 0 -1.94 0.071 -0.774 0.048 -0.915 0.026 0.202 0.241 0.052 0.166 6.848 0.230 . ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8|ENSG00000185880.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.7994 0.6355 0.7405 0.8472 0.7687 0.8707 0.8450 0.8235 0.7267 0.7812 0.6336 0.7333 0.8311 0.7630 0.8703 0.8492 0.7930 het 667.78 59 15 45047573 . C T 667.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.039;DP=59;Dels=0.00;FS=1.118;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=1.225;QD=11.32;ReadPosRankSum=1.057;VQSLOD=5.5542;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,27:59:99:698,0,792 15 45361180 45361180 A T exonic SORD nonsynonymous SNV SORD:NM_003104:exon7:c.A716T:p.Q239L 0.34 0.67 0.29 0.22 0.18 0.2 0.2640 0.6010 0.3394 0.2550 0.2230 0.2080 0.2654 0.2313 0.29 0.56 0.16 0.25 0.11 rs55739437 COSM3746382 1(bone);1(liver);4(thyroid) . . . . . . . . . . . 0.801 0.053 T 0.0 0.026 B 0.0 0.013 B 0.015 0.283 N 1 0.090 P -2.05 0.002 N 3.67 0.042 T 2.56 0.003 N 0.032 0.017 -1.044 0.162 T 0.000 0.000 T . . . 0.425 0.135 6.829 0.853 0.153 0.101 0.155 N c -0.966 -0.767 0.998 0.363 0.732 0.924 0 4.74 0.596 2.594 0.456 0.152 0.238 0.996 0.391 0.965 0.450 10.116 0.416 Alcohol dehydrogenase\x2c C-terminal|NAD(P)-binding domain ENSG00000259479.2|ENSG00000259479.2|ENSG00000259479.2|ENSG00000259479.2|ENSG00000259187.1|ENSG00000259479.2|ENSG00000259479.2|ENSG00000259479.2|ENSG00000259479.2|ENSG00000259352.1|ENSG00000259479.2|ENSG00000259479.2|ENSG00000259352.1 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Thyroid|Whole_Blood|Whole_Blood 0.2010 0.6027 0.2277 0.1664 0.1775 0.1676 0.1629 0.1892 0.1547 0.2580 0.5679 0.1786 0.1287 0.0531 0.1497 0.1290 0.1580 het 173.35 15 15 45361180 . A T 173.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.040;DP=15;Dels=0.00;FS=3.123;HRun=0;HaplotypeScore=1.5449;MQ=56.29;MQ0=0;MQRankSum=1.555;QD=11.56;ReadPosRankSum=0.652;VQSLOD=2.8745;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:203,0,172 15 45392075 45392075 G A exonic DUOX2 nonsynonymous SNV DUOX2:NM_014080:exon25:c.C3200T:p.S1067L 0.72 0.16 0.8 0.95 0.93 0.96 0.8644 0.2553 0.8539 0.9425 0.9273 0.9248 0.9049 0.9420 0.7 0.27 0.92 0.65 0.87 rs269868 COSM4148787 1(thyroid) Benign|Benign not_specified|Congenital_hypothyroidism RCV000252016.1|RCV000394986.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 0.043 0.413 D 0.025 0.179 B 0.02 0.179 B 0.000 0.843 D 0.000 0.588 P 2.365 0.684 M -2.1 0.862 D -2.75 0.584 D 0.142 0.166 -0.941 0.425 T 0.000 0.000 T . . . 3.386 0.465 23.0 0.999 0.940 0.989 0.876 D c 0.152 0.270 1.000 0.747 0.516 0.203 0 5.6 0.849 8.053 0.892 1.048 0.713 1.000 0.715 0.946 0.421 18.606 0.912 . ENSG00000259352.1|ENSG00000259187.1|ENSG00000259187.1|ENSG00000140279.8|ENSG00000259352.1|ENSG00000137857.13|ENSG00000259352.1|ENSG00000259187.1 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.8768 0.2385 0.8656 0.9280 0.9459 0.9285 0.9239 0.8956 0.9393 0.7305 0.2529 0.8616 0.9367 0.9531 0.9204 0.9177 0.8857 hom 2127.62 63 15 45392075 . G A 2127.62 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7653;MQ=59.63;MQ0=0;QD=33.77;VQSLOD=9.5248;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2161,175,0 15 45400358 45400358 C G exonic DUOX2 synonymous SNV DUOX2:NM_014080:exon13:c.G1461C:p.G487G 0.86 0.55 0.93 0.99 0.97 0.99 0.9410 0.6115 0.9405 0.9791 0.9879 0.9716 0.9580 0.9856 0.86 0.63 0.97 0.83 0.93 rs269860 COSM4148789 1(thyroid) Benign|Benign not_specified|Congenital_hypothyroidism RCV000254488.1|RCV000364666.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9491 0.6068 0.9444 0.9963 0.9790 0.9853 0.9706 0.9642 0.9858 0.8712 0.6079 0.9475 1 0.9790 0.9854 0.9738 0.9559 hom 3840.74 117 15 45400358 . C G 3840.74 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.61;MQ0=0;QD=32.83;VQSLOD=8.6076;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3840,310,0 15 45404066 45404066 G A exonic DUOX2 nonsynonymous SNV DUOX2:NM_014080:exon5:c.C413T:p.P138L 0.76 0.36 0.8 0.92 0.91 0.95 0.8624 0.4270 0.8479 0.9036 0.9154 0.9038 0.8888 0.9279 0.74 0.43 0.9 0.73 0.82 rs2001616 COSM4148790 1(pancreas);1(thyroid) Benign|Benign not_specified|Congenital_hypothyroidism RCV000251571.1|RCV000396025.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 0.097 0.309 T 0.031 0.188 B 0.049 0.237 B 0.000 0.454 D 0.000 0.588 P 2.31 0.663 M -0.6 0.717 T -4.82 0.808 D 0.06 0.044 -1.064 0.108 T 0.000 0.000 T . . . 2.020 0.304 16.34 0.983 0.397 0.864 0.454 D c -0.338 -0.248 0.996 0.347 0.447 0.083 0 1.9 0.247 2.474 0.446 0.135 0.219 0.997 0.399 0.790 0.333 6.759 0.226 . ENSG00000259520.1|ENSG00000171763.13|ENSG00000137857.13|ENSG00000140254.8 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Thyroid|Thyroid 0.8710 0.4076 0.8599 0.9008 0.9088 0.9188 0.9041 0.8828 0.9239 0.7663 0.4161 0.8592 0.9073 0.9223 0.9089 0.9036 0.8898 hom 1413.47 48 15 45404066 . G A 1413.47 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.61;MQ0=0;QD=29.45;VQSLOD=8.5093;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1446,114,0 15 45408414 45408414 C G exonic DUOXA2 nonsynonymous SNV DUOXA2:NM_207581:exon3:c.C298G:p.R100G 0.86 0.48 0.96 1. 1. 1. 0.9621 0.5532 0.9868 1 1 0.9995 0.9856 0.9996 0.86 0.58 1. 0.88 0.96 rs2576090 . . Benign not_specified RCV000250029.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.988 0.245 P -3.41 0.000 N 2.11 0.199 T 6.95 0.000 N 0.119 0.132 -0.939 0.428 T 0.000 0.000 T . . . 1.310 0.222 12.32 0.559 0.053 0.165 0.192 N c -0.976 -0.652 1.000 0.747 0.598 0.340 0 5.38 0.772 7.477 0.799 0.136 0.221 1.000 0.715 0.036 0.153 15.397 0.744 . . . 0.9693 0.5493 0.9850 1 1 1 0.9993 0.9876 0.9996 0.8735 0.5568 0.9869 1 1 1 0.9989 0.9734 hom 5653.93 186 15 45408414 . C G 5653.93 Mask AC=2;AF=1.00;AN=2;DP=186;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9970;MQ=59.16;MQ0=0;QD=30.40;VQSLOD=8.7451;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,185:186:99:5620,442,0 15 45444133 45444133 T C exonic DUOX1 nonsynonymous SNV DUOX1:NM_175940:exon24:c.T3076C:p.C1026R,DUOX1:NM_017434:exon25:c.T3076C:p.C1026R 0.3 0.32 0.19 0.42 0.13 0.41 0.2040 0.2799 0.2548 0.4258 0.1365 0.1272 0.1740 0.3433 0.17 0.27 0.12 0.25 0.13 rs16939752 COSM147896;COSM3754342 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(large_intestine) . . . . . . . . . . . 0.364 0.122 T 0.0 0.026 B 0.0 0.013 B 0.002 0.371 N 0.872 0.282 P -2.255 0.001 N -1.88 0.886 D 1.67 0.006 N 0.119 0.132 -0.963 0.386 T 0.000 0.000 T . . . 1.876 0.286 15.44 0.887 0.176 0.144 0.182 N c -0.761 -0.524 0.987 0.311 0.554 0.283 0 3.25 0.362 1.017 0.294 -0.425 0.059 0.735 0.287 0.040 0.157 3.889 0.086 . ENSG00000259539.1|ENSG00000259539.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259539.1|ENSG00000259520.1|ENSG00000259539.1|ENSG00000259539.1|ENSG00000259520.1|ENSG00000259539.1|ENSG00000259539.1|ENSG00000259539.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259539.1|ENSG00000259539.1|ENSG00000259539.1|ENSG00000259433.2|ENSG00000259539.1|ENSG00000259520.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid 0.2014 0.2762 0.2552 0.1463 0.4260 0.1400 0.1216 0.1814 0.3351 0.1868 0.2768 0.2255 0.1656 0.4244 0.1453 0.1175 0.1752 het 1449.52 127 15 45444133 . T C 1449.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.692;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0748;MQ=59.38;MQ0=0;MQRankSum=-1.217;QD=11.41;ReadPosRankSum=-0.927;VQSLOD=4.9174;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,58:127:99:1480,0,1968 15 45444518 45444518 A G exonic DUOX1 synonymous SNV DUOX1:NM_175940:exon25:c.A3228G:p.T1076T,DUOX1:NM_017434:exon26:c.A3228G:p.T1076T 0.58 0.47 0.51 0.49 0.67 0.77 0.6327 0.4791 0.4923 0.4843 0.6669 0.6758 0.6013 0.7190 0.61 0.48 0.68 0.49 0.69 rs1706804 COSM4148801;COSM147897 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6259 0.4685 0.5074 0.5941 0.4835 0.6579 0.6775 0.6385 0.7106 0.5974 0.4826 0.5418 0.5828 0.4703 0.6557 0.6648 0.6398 het 939.84 83 15 45444518 . A G 939.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.587;DP=83;Dels=0.00;FS=1.018;HRun=1;HaplotypeScore=3.6266;MQ=59.72;MQ0=0;MQRankSum=-0.074;QD=11.32;ReadPosRankSum=0.882;VQSLOD=5.8167;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:970,0,1110 15 45446156 45446156 C T exonic DUOX1 nonsynonymous SNV DUOX1:NM_175940:exon27:c.C3532T:p.L1178F,DUOX1:NM_017434:exon28:c.C3532T:p.L1178F 0.55 0.39 0.5 0.49 0.66 0.77 0.6248 0.4166 0.4853 0.4833 0.6615 0.6739 0.5914 0.7161 0.59 0.43 0.68 0.46 0.69 rs2458236 COSM3927717;COSM147898 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.439 0.104 T 0.002 0.090 B 0.019 0.176 B 0.003 0.363 N 0.999 0.215 P 0.63 0.160 N -2.77 0.909 D 0.42 0.038 N 0.097 0.098 -0.905 0.474 T 0.000 0.000 T . . . 2.651 0.380 20.5 0.986 0.429 0.462 0.275 N c -0.650 -0.477 0.986 0.309 0.554 0.283 0 3.35 0.373 0.584 0.234 0.151 0.238 0.999 0.424 0.954 0.431 6.258 0.200 EF-hand domain|EF-hand domain pair;Ferric reductase transmembrane component-like domain ENSG00000259539.1|ENSG00000259539.1|ENSG00000259539.1|ENSG00000137857.13|ENSG00000259539.1|ENSG00000259539.1|ENSG00000137857.13|ENSG00000140254.8|ENSG00000137860.7|ENSG00000140274.9|ENSG00000137857.13|ENSG00000140254.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid 0.6199 0.4068 0.5019 0.5918 0.4817 0.6576 0.6761 0.6303 0.7077 0.5791 0.4202 0.5398 0.5828 0.4715 0.6547 0.6644 0.6353 het 758.52 96 15 45446156 . C T 758.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.248;DP=96;Dels=0.00;FS=5.523;HRun=1;HaplotypeScore=2.6500;MQ=56.92;MQ0=0;MQRankSum=0.495;QD=7.90;ReadPosRankSum=-0.129;VQSLOD=3.5548;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,35:96:99:789,0,1686 15 45467540 45467540 C G exonic SHF nonsynonymous SNV SHF:NM_001301168:exon3:c.G724C:p.A242P,SHF:NM_001301169:exon3:c.G724C:p.A242P,SHF:NM_001301170:exon3:c.G724C:p.A242P,SHF:NM_001301171:exon3:c.G118C:p.A40P,SHF:NM_138356:exon4:c.G529C:p.A177P 0.95 0.98 0.95 0.82 1. 0.99 0.9763 0.9851 0.9423 0.8074 0.9996 0.9962 0.9789 0.9910 0.99 0.99 1. 0.95 . rs1632144 COSM5460399;COSM5460398 1(large_intestine) . . . . . . . . . . . 1.0 0.058 T 0.0 0.067 B 0.001 0.063 B 0.002 0.386 N 1.000 0.090 P -0.695 0.019 N 1.45 0.325 T 1.42 0.013 N 0.043 0.317 -0.931 0.440 T 0.000 0.000 T . . . 2.309 0.339 18.22 0.804 0.127 0.130 0.174 N c -0.862 -0.655 1.000 0.489 0.706 0.609 0 5.25 0.731 2.518 0.450 0.039 0.154 1.000 0.715 0.302 0.237 7.558 0.268 . . . 0.9744 0.9849 0.9468 0.9824 0.8051 0.9987 0.9975 0.9839 0.9915 0.9822 0.9850 0.9535 0.9834 0.7936 0.9980 0.9982 0.9908 hom 545.07 18 15 45467540 . C G 545.07 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.28;VQSLOD=13.3743;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:578,45,0 15 45545478 45545478 C T exonic SLC28A2 nonsynonymous SNV SLC28A2:NM_004212:exon2:c.C65T:p.P22L 0.3 0.11 0.38 0.11 0.61 0.4 0.4753 0.1766 0.2628 0.0764 0.5850 0.6039 0.5134 0.4550 0.48 0.19 0.63 0.25 0.67 rs11854484 . . . . . . . . . . . . . 0.545 0.067 T 0.001 0.067 B 0.001 0.040 B 0.125 0.188 N 1.000 0.090 P 1.32 0.331 L 4.82 0.015 T -0.13 0.090 N 0.124 0.140 -1.040 0.174 T 0.000 0.000 T . . . 1.133 0.203 11.39 0.714 0.093 0.023 0.065 N c -1.019 -1.052 0.036 0.143 0.554 0.246 0 -0.812 0.103 -1.793 0.018 0.855 0.374 0.000 0.063 0.110 0.193 1.501 0.023 . ENSG00000259433.2|ENSG00000171763.13|ENSG00000259520.1|ENSG00000171763.13|ENSG00000259520.1|ENSG00000137860.7|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000171763.13|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259433.2|ENSG00000259520.1|ENSG00000171763.13|ENSG00000259520.1|ENSG00000171766.11|ENSG00000171763.13|ENSG00000259520.1|ENSG00000259520.1|ENSG00000171763.13|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259539.1|ENSG00000259520.1|ENSG00000171766.11|ENSG00000259433.2|ENSG00000259520.1|ENSG00000171766.11|ENSG00000259433.2|ENSG00000171763.13|ENSG00000137860.7|ENSG00000235390.3|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259520.1|ENSG00000137860.7|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000171766.11|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259433.2|ENSG00000171763.13|ENSG00000137860.7|ENSG00000259539.1|ENSG00000259520.1|ENSG00000171766.11|ENSG00000259520.1|ENSG00000171763.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood 0.4758 0.1649 0.2812 0.5100 0.0772 0.5818 0.6195 0.5058 0.4540 0.4601 0.1815 0.3565 0.5 0.0833 0.5790 0.6334 0.5656 hom 1296.77 42 15 45545478 . C T 1296.77 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=30.88;VQSLOD=8.6431;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1330,102,0 15 45554267 45554267 C A exonic SLC28A2 nonsynonymous SNV SLC28A2:NM_004212:exon4:c.C225A:p.S75R 0.31 0.11 0.39 0.12 0.63 0.41 0.5018 0.1817 0.2804 0.0834 0.5943 0.6410 0.5374 0.4763 0.51 0.2 0.66 0.28 0.68 rs1060896 . . . . . . . . . . . . . 0.558 0.064 T 0.0 0.026 B 0.0 0.013 B 0.238 0.036 N 1 0.090 P 0.255 0.098 N -1.43 0.807 T 0.28 0.073 N 0.062 0.482 -0.960 0.391 T 0.000 0.000 T . . . 0.334 0.126 6.019 0.866 0.161 0.021 0.062 N c -1.400 -1.355 0.985 0.308 0.487 0.133 0 -3.67 0.042 -1.373 0.027 -0.930 0.025 0.000 0.063 0.056 0.168 1.300 0.019 . ENSG00000259433.2|ENSG00000171763.13|ENSG00000259520.1|ENSG00000171763.13|ENSG00000259520.1|ENSG00000137860.7|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259433.2|ENSG00000171763.13|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259433.2|ENSG00000137860.7|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000171763.13|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259433.2|ENSG00000137860.7|ENSG00000259520.1|ENSG00000171763.13|ENSG00000259520.1|ENSG00000171766.11|ENSG00000171763.13|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000171766.11|ENSG00000259433.2|ENSG00000259520.1|ENSG00000171766.11|ENSG00000259433.2|ENSG00000171763.13|ENSG00000137860.7|ENSG00000235390.3|ENSG00000259520.1|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259520.1|ENSG00000137860.7|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000259433.2|ENSG00000259520.1|ENSG00000171766.11|ENSG00000259433.2|ENSG00000166920.6|ENSG00000259520.1|ENSG00000259433.2|ENSG00000171763.13|ENSG00000137860.7|ENSG00000259539.1|ENSG00000259520.1|ENSG00000171766.11|ENSG00000259520.1|ENSG00000171763.13|ENSG00000171766.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.5022 0.1707 0.2989 0.5837 0.0833 0.5908 0.6533 0.5402 0.4783 0.4769 0.1837 0.3652 0.5733 0.0901 0.5904 0.6601 0.5869 hom 6288.40 218 15 45554267 . C A 6288.40 Mask AC=2;AF=1.00;AN=2;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9075;MQ=59.22;MQ0=0;QD=28.85;VQSLOD=8.5255;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:6287,488,0 15 48058071 48058071 G A exonic SEMA6D nonsynonymous SNV SEMA6D:NM_020858:exon14:c.G1433A:p.S478N,SEMA6D:NM_153616:exon14:c.G1433A:p.S478N,SEMA6D:NM_153617:exon14:c.G1433A:p.S478N,SEMA6D:NM_153618:exon14:c.G1433A:p.S478N,SEMA6D:NM_153619:exon14:c.G1433A:p.S478N,SEMA6D:NM_001198999:exon17:c.G1433A:p.S478N 0.47 0.58 0.36 0.6 0.35 0.36 0.3969 0.5845 0.4055 0.5903 0.4369 0.3417 0.3917 0.3557 0.42 0.59 0.33 0.53 0.27 rs532598 . . . . . . . . . . . . . 0.393 0.132 T 0.0 0.026 B 0.0 0.040 B 0.126 0.188 N 1e-37 0.810 P 0.915 0.234 L 2.27 0.182 T -0.89 0.305 N 0.018 0.005 -0.980 0.350 T 0.000 0.000 T . . . -1.317 0.022 0.004 0.684 0.084 0.179 0.198 N c -0.985 -0.857 0.946 0.276 0.651 0.465 0 -1.93 0.071 0.310 0.190 -0.527 0.049 0.966 0.337 0.813 0.340 7.211 0.249 Sema domain|WD40/YVTN repeat-like-containing domain . . 0.3978 0.5857 0.3980 0.3871 0.5876 0.4345 0.3355 0.3961 0.3448 0.4598 0.5876 0.4177 0.3709 0.5841 0.4493 0.3803 0.4362 het 1148.90 111 15 48058071 . G A 1148.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.533;DP=111;Dels=0.00;FS=0.761;HRun=1;HaplotypeScore=0.6651;MQ=59.79;MQ0=0;MQRankSum=-0.193;QD=10.26;ReadPosRankSum=-0.991;VQSLOD=6.4215;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,48:111:99:1179,0,1724 15 48063076 48063076 T C exonic SEMA6D synonymous SNV SEMA6D:NM_020858:exon17:c.T2130C:p.P710P,SEMA6D:NM_153616:exon17:c.T2091C:p.P697P,SEMA6D:NM_153617:exon18:c.T2148C:p.P716P,SEMA6D:NM_153618:exon19:c.T2316C:p.P772P,SEMA6D:NM_001198999:exon20:c.T2130C:p.P710P 0.8 0.98 0.65 0.84 0.64 0.76 0.6948 0.9326 0.7130 0.8363 0.7435 0.6255 0.6737 0.7254 0.71 0.92 0.61 0.83 0.54 rs568215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6936 0.9378 0.7135 0.6402 0.8347 0.7462 0.6195 0.6744 0.7212 0.7481 0.9292 0.7220 0.63 0.8325 0.7526 0.6387 0.7106 het 1288.77 122 15 48063076 . T C 1288.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.006;DP=122;Dels=0.00;FS=0.685;HRun=2;HaplotypeScore=0.8321;MQ=58.57;MQ0=0;MQRankSum=1.338;QD=10.56;ReadPosRankSum=-0.256;VQSLOD=6.1216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,52:122:99:1319,0,1936 15 48443699 48443699 T C exonic MYEF2 nonsynonymous SNV MYEF2:NM_001301210:exon13:c.A1277G:p.Q426R,MYEF2:NM_016132:exon13:c.A1277G:p.Q426R 1. 1. 1. 1. 1. 1. 0.9997 1 1 1 0.9995 0.9995 1 1 1. 1. 1. 1. 0.93 rs2470103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9999 1 1 1 0.9990 0.9995 0.9998 1 0.9995 0.9999 1 1 1 0.9983 0.9994 0.9990 hom 6179.95 224 15 48443699 . T C 6179.95 Mask AC=2;AF=1.00;AN=2;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2887;MQ=58.34;MQ0=0;QD=27.59;VQSLOD=5.3865;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:224:99:6179,472,0 15 48460927 48460927 C T exonic MYEF2 nonsynonymous SNV MYEF2:NM_001301210:exon2:c.G271A:p.A91T,MYEF2:NM_016132:exon2:c.G271A:p.A91T 0.99 0.97 1. 1. 1. 1. 0.9980 0.9786 0.9989 1 1 1 0.9978 1 0.99 0.98 1. 0.99 1. rs8023906 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.015 0.284 N 1.000 0.186 P -1.1 0.010 N 2.66 0.205 T 0.37 0.036 N 0.044 0.052 -0.983 0.343 T 0.000 0.000 T . . . 0.533 0.145 7.679 0.307 0.017 0.404 0.262 N c -0.970 -0.681 0.004 0.104 0.737 0.974 0 2.28 0.275 -0.008 0.126 0.119 0.209 0.982 0.353 0.998 0.697 1.747 0.028 . . . 0.9985 0.9786 0.9991 1 1 1 1.0000 0.9996 1.0000 0.9945 0.9808 1 1 1 1 1 0.9990 hom 4427.92 146 15 48460927 . C T 4427.92 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.59;MQ0=0;QD=30.33;VQSLOD=7.6550;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4427,349,0 15 48539587 48539587 T C exonic SLC12A1 synonymous SNV SLC12A1:NM_000338:exon13:c.T1614C:p.Y538Y,SLC12A1:NM_001184832:exon13:c.T1614C:p.Y538Y 0.5 0.84 0.3 0.59 0.21 0.37 0.2967 0.7396 0.2918 0.5587 0.2216 0.1993 0.2539 0.3095 0.37 0.71 0.19 0.58 . rs6493311 COSM3999550;COSM3999551 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Antenatal_Bartter_Syndrome RCV000251968.1|RCV000287873.1 MedGen|MedGen CN169374|CN239220 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2872 0.7522 0.2862 0.2263 0.5632 0.2200 0.1953 0.2717 0.3072 0.3825 0.7389 0.2947 0.2781 0.5514 0.2322 0.2081 0.2531 het 385.07 42 15 48539587 . T C 385.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.317;DP=42;Dels=0.00;FS=1.226;HRun=0;HaplotypeScore=1.9279;MQ=57.99;MQ0=0;MQRankSum=2.453;QD=9.17;ReadPosRankSum=-0.902;VQSLOD=4.6081;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,18:42:99:415,0,621 15 48623812 48623812 G A exonic DUT nonsynonymous SNV DUT:NM_001025248:exon1:c.G100A:p.E34K 0.0038 . . 0.015 0.003 0.001 0.0046 0.0022 0 0.0217 0 0.0076 0.0174 0.0004 0.0009 0.0003 0.0012 . . rs28381099 . . . . . . . . . . . . . 0.006 0.632 D 0.007 0.131 B 0.002 0.063 B 0.432 0.047 N 1 0.090 N 0.805 0.203 L 0.67 0.522 T -0.36 0.131 N 0.143 0.312 -1.003 0.290 T 0.042 0.179 T . . . 2.097 0.313 16.83 0.989 0.471 0.033 0.082 N c -0.848 -1.013 1.000 0.747 0.442 0.072 0 -0.919 0.099 0.733 0.256 -0.446 0.057 0.001 0.137 0.000 0.016 6.986 0.238 . . . 0.0032 0.0006 0.0009 0 0.0150 0.0002 0.0048 0.0023 0.0006 0.0031 0.0009 0.0024 0 0.0235 0.0003 0.0031 0.0020 het 164.11 10 15 48623812 . G A 164.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.633;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.365;QD=16.41;ReadPosRankSum=0.741;VQSLOD=11.5347;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,6:10:99:194,0,120 15 48807637 48807637 C T exonic FBN1 nonsynonymous SNV FBN1:NM_000138:exon12:c.G1415A:p.C472Y 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs4775765 COSM4591140 23(upper_aerodigestive_tract) not provided not_specified RCV000223162.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3166.69 102 15 48807637 . C T 3166.69 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=31.05;VQSLOD=8.2177;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3200,268,0 15 49293194 49293194 C A exonic SECISBP2L nonsynonymous SNV SECISBP2L:NM_014701:exon14:c.G1993T:p.V665L,SECISBP2L:NM_001193489:exon15:c.G2128T:p.V710L 0.077 0.041 0.11 0.003 0.2 0.051 0.1546 0.0562 0.0942 0.0003 0.2057 0.2176 0.1493 0.0648 0.17 0.063 0.22 0.076 0.16 rs11854184 . . . . . . . . . . . . . 0.06 0.373 T 0.029 0.185 B 0.014 0.158 B 0.013 0.289 N 0.138 0.354 P 1.23 0.308 L 0.45 0.565 T -1.83 0.465 N 0.088 0.169 -1.084 0.067 T 0.000 0.000 T . . . 2.599 0.374 20.2 0.983 0.396 0.912 0.527 D c -0.372 -0.193 0.717 0.229 0.706 0.609 0 4.17 0.481 3.103 0.497 0.070 0.177 1.000 0.715 0.988 0.529 8.847 0.342 50S ribosomal protein L30e-like|Ribosomal protein L7Ae/L30e/S12e/Gadd45 ENSG00000140285.5 Muscle_Skeletal 0.1565 0.0541 0.1007 0.3046 0.0006 0.2034 0.2124 0.1882 0.0658 0.1540 0.0631 0.1193 0.3079 0.0006 0.2171 0.2059 0.1837 het 1154.08 88 15 49293194 . C A 1154.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.493;DP=88;Dels=0.00;FS=2.909;HRun=1;HaplotypeScore=0.5784;MQ=59.50;MQ0=0;MQRankSum=-0.586;QD=13.11;ReadPosRankSum=-0.050;VQSLOD=6.6747;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,47:88:99:1184,0,1141 15 49325289 49325289 A C exonic SECISBP2L synonymous SNV SECISBP2L:NM_001193489:exon4:c.T537G:p.L179L,SECISBP2L:NM_014701:exon4:c.T537G:p.L179L 0.43 0.23 0.4 0.35 0.65 0.56 0.5539 0.2940 0.3579 0.3817 0.6709 0.6375 0.5905 0.5572 0.52 0.3 0.63 0.38 0.45 rs11638215 COSM3754346;COSM3754347 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5555 0.2898 0.3820 0.6721 0.3763 0.6679 0.6350 0.5917 0.5624 0.5297 0.2994 0.4239 0.6788 0.3657 0.6716 0.6474 0.6188 het 492.89 47 15 49325289 . A C 492.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.723;DP=47;Dels=0.00;FS=1.972;HRun=0;HaplotypeScore=0.8321;MQ=58.57;MQ0=0;MQRankSum=0.661;QD=10.49;ReadPosRankSum=-0.488;VQSLOD=6.2143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,19:47:99:523,0,851 15 50152583 50152583 G T exonic ATP8B4 synonymous SNV ATP8B4:NM_024837:exon28:c.C3387A:p.G1129G 1. 1. 1. 1. 1. 1. 1.0000 1 1 0.9995 1 1 1 1 . . . 1. 1. rs4774549 COSM4594807 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9998 1 1 1 1 1 1 1 1 1 1 1 1 hom 3772.71 120 15 50152583 . G T 3772.71 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.15;MQ0=0;QD=31.44;VQSLOD=8.8012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3772,313,0 15 50189566 50189566 A G exonic ATP8B4 nonsynonymous SNV ATP8B4:NM_024837:exon23:c.T2620C:p.C874R 0.0046 0.0068 0.0014 . 0.005 0.0082 0.0057 0.0107 0.0036 0 0.0009 0.0048 0.0066 0.0123 0.0063 0.0098 0.0045 . . rs74012834 . . . . . . . . . . . . . 0.743 0.037 T 0.0 0.026 B 0.0 0.040 B 0.002 0.368 N 1.000 0.588 D -0.24 0.039 N -0.46 0.700 T -2.3 0.511 N 0.246 0.484 -1.050 0.144 T 0.093 0.355 T . . . 0.323 0.125 5.911 0.550 0.051 0.190 0.203 N c -0.800 -0.689 0.997 0.352 0.487 0.133 0 0.616 0.167 0.137 0.157 0.230 0.258 0.005 0.169 0.999 0.750 8.820 0.340 P-type ATPase\x2c C-terminal . . 0.0054 0.0102 0.0033 0.0152 0 0.0009 0.0044 0.0071 0.0120 0.0055 0.0098 0.0084 0.0265 0 0.0011 0.0042 0.0031 het 1685.41 205 15 50189566 . A G 1685.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.009;DP=205;Dels=0.00;FS=1.138;HRun=0;HaplotypeScore=8.5349;MQ=58.38;MQ0=1;MQRankSum=1.551;QD=8.22;ReadPosRankSum=-0.426;VQSLOD=2.9246;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:127,78:205:99:1715,0,3178 15 50226313 50226313 G T exonic ATP8B4 nonsynonymous SNV ATP8B4:NM_024837:exon15:c.C1354A:p.H452N 0.64 0.88 0.6 0.41 0.69 0.54 0.6624 0.8364 0.5145 0.4299 0.7939 0.7067 0.6991 0.5431 0.74 0.83 0.7 0.65 0.66 rs2452524 COSM3754348 1(large_intestine) . . . . . . . . . . . 0.441 0.092 T 0.0 0.026 B 0.0 0.013 B 0.949 0.076 N 1 0.090 P -1.115 0.009 N 0.03 0.622 T 1.59 0.007 N 0.007 0.019 -1.000 0.299 T 0.000 0.000 T . . . -1.210 0.025 0.006 0.414 0.030 0.002 0.013 N c -1.704 -1.639 0.113 0.167 0.554 0.246 0 -2.68 0.057 0.533 0.226 -0.955 0.024 0.000 0.063 0.351 0.246 6.673 0.221 P-type ATPase\x2c cytoplasmic domain N . . 0.6556 0.8429 0.5276 0.6529 0.4261 0.7986 0.7050 0.6638 0.5475 0.7278 0.8334 0.5420 0.6457 0.4239 0.7804 0.6989 0.7127 het 1382.31 88 15 50226313 . G T 1382.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.608;DP=88;Dels=0.00;FS=1.961;HRun=1;HaplotypeScore=4.5050;MQ=58.21;MQ0=1;MQRankSum=-0.074;QD=15.71;ReadPosRankSum=0.232;VQSLOD=4.2543;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,54:88:99:1412,0,873 15 50279662 50279662 T C exonic ATP8B4 nonsynonymous SNV ATP8B4:NM_024837:exon10:c.A674G:p.N225S 0.29 0.43 0.22 0.33 0.2 0.21 0.2507 0.3860 0.2251 0.3452 0.3084 0.2267 0.2247 0.2092 0.27 0.38 0.22 0.33 0.22 rs16963151 COSM4998261 1(pancreas);1(oesophagus) . . . . . . . . . . . 0.323 0.134 T 0.0 0.026 B 0.006 0.112 B 0.018 0.277 N 0.989 0.243 P -0.445 0.028 N -0.84 0.743 T -0.6 0.178 N 0.002 0.002 -1.020 0.237 T 0.000 0.000 T . . . 0.266 0.120 5.362 0.820 0.135 0.756 0.367 D c -1.000 -0.814 1.000 0.427 0.554 0.246 0 -2.18 0.066 -0.184 0.096 -0.224 0.096 0.009 0.180 0.995 0.604 6.200 0.197 P-type ATPase\x2c A domain . . 0.2464 0.3841 0.2232 0.0974 0.3516 0.3234 0.2280 0.2066 0.2102 0.2986 0.3757 0.2148 0.0927 0.3335 0.3244 0.2558 0.2526 het 766 80 15 50279662 . T C 766 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.060;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;MQRankSum=0.903;QD=9.57;ReadPosRankSum=0.096;VQSLOD=6.6321;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,28:80:99:796,0,1300 15 50474766 50474766 A C exonic SLC27A2 nonsynonymous SNV SLC27A2:NM_001159629:exon1:c.A142C:p.K48Q,SLC27A2:NM_003645:exon1:c.A142C:p.K48Q 0.61 0.37 0.63 0.81 0.65 0.68 0.6847 0.4340 0.7264 0.8166 0.7618 0.6807 0.6971 0.7170 0.58 0.43 0.67 0.36 0.37 rs1648348 COSM3754349 1(pancreas);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.457 0.092 T 0.0 0.026 B 0.001 0.063 B 0.072 0.023 N 1 0.090 P -0.605 0.022 N 0.18 0.604 T -0.84 0.232 N 0.027 0.009 -0.924 0.450 T 0.000 0.000 T . . . -0.822 0.039 0.038 0.596 0.061 0.016 0.051 N c -1.288 -1.265 1.000 0.747 0.685 0.552 0 0.708 0.172 0.201 0.169 0.067 0.174 0.000 0.063 0.065 0.173 13.747 0.622 . ENSG00000140284.6 Skin_Sun_Exposed_Lower_leg 0.6838 0.4131 0.7013 0.6385 0.8124 0.7576 0.6753 0.6697 0.7149 0.6246 0.4087 0.6742 0.6159 0.7989 0.7659 0.6925 0.6738 hom 926.56 28 15 50474766 . A C 926.56 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=33.09;VQSLOD=8.8521;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:78.24:960,78,0 15 50555483 50555483 G A exonic HDC synonymous SNV HDC:NM_001306146:exon2:c.C153T:p.P51P,HDC:NM_002112:exon2:c.C153T:p.P51P . . . . . . 7.428e-05 0 0.0003 0.0003 0.0002 1.501e-05 0 0 . . . . . rs760392712 COSM5461569 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.915e-05 0 8.937e-05 0 0.0005 4.494e-05 3.591e-05 0 3.249e-05 0.0001 0 0 0 0.0018 0.0003 0 0 het 3889.87 234 15 50555483 . G A 3889.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.560;DP=234;DS;Dels=0.00;FS=3.185;HRun=0;HaplotypeScore=1.7825;MQ=59.72;MQ0=0;MQRankSum=-1.228;QD=16.62;ReadPosRankSum=0.347;VQSLOD=4.2101;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,113:234:99:3266,0,3372 15 50773755 50773755 G A exonic USP8 synonymous SNV USP8:NM_001283049:exon9:c.G1065A:p.Q355Q,USP8:NM_001128610:exon11:c.G1296A:p.Q432Q,USP8:NM_005154:exon11:c.G1296A:p.Q432Q 0.99 0.97 1. 1. 1. 1. 0.9974 0.9706 0.9995 1 1 1.0000 0.9967 0.9999 0.99 0.97 1. 1. 0.98 rs3131561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9701 0.9992 1 1 1 0.9999 0.9991 1.0000 0.9918 0.9713 0.9988 1 1 1 0.9999 1 hom 1661.66 51 15 50773755 . G A 1661.66 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=58.81;MQ0=0;QD=32.58;VQSLOD=9.5172;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1695,135,0 15 50867082 50867082 G A exonic TRPM7 synonymous SNV TRPM7:NM_001301212:exon34:c.C4983T:p.Y1661Y,TRPM7:NM_017672:exon34:c.C4986T:p.Y1662Y 0.61 0.71 0.61 0.61 0.56 0.54 0.5704 0.6623 0.6194 0.5532 0.4717 0.5600 0.5802 0.5716 0.59 0.66 0.56 0.73 0.5 rs473357 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5695 0.6724 0.6238 0.5486 0.5536 0.4722 0.5629 0.5639 0.5704 0.5754 0.6687 0.6136 0.5265 0.5379 0.4940 0.5453 0.5398 het 1135.09 97 15 50867082 . G A 1135.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.851;DP=97;Dels=0.00;FS=2.708;HRun=0;HaplotypeScore=1.7900;MQ=58.84;MQ0=0;MQRankSum=0.402;QD=11.70;ReadPosRankSum=2.192;VQSLOD=5.7861;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,44:97:99:1165,0,1417 15 51217361 51217361 T C exonic AP4E1 nonsynonymous SNV AP4E1:NM_001252127:exon5:c.T262C:p.C88R,AP4E1:NM_007347:exon5:c.T487C:p.C163R 0.44 0.38 0.39 0.62 0.47 0.35 0.4351 0.4007 0.3189 0.5757 0.4347 0.4525 0.4427 0.3945 0.44 0.4 0.46 0.45 0.45 rs2306331 COSM4128280 2(pancreas);1(thyroid) other not_specified RCV000116365.3 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.432 N 0.921 0.273 P -1.845 0.003 N 2.75 0.116 T 3.38 0.001 N 0.045 0.123 -0.961 0.391 T 0.000 0.000 T . . . 0.385 0.131 6.486 0.772 0.114 0.509 0.285 D c -0.808 -0.490 1.000 0.747 0.651 0.465 0 5.53 0.825 3.922 0.559 -0.013 0.131 1.000 0.715 0.923 0.397 8.749 0.336 Armadillo-like helical|Armadillo-type fold|Clathrin/coatomer adaptor\x2c adaptin-like\x2c N-terminal ENSG00000259306.2|ENSG00000259240.1|ENSG00000081014.6 Esophagus_Mucosa|Esophagus_Mucosa|Muscle_Skeletal 0.4286 0.3949 0.3270 0.3486 0.5704 0.4293 0.4594 0.4263 0.3908 0.4469 0.3890 0.3577 0.3609 0.5848 0.4466 0.4720 0.4562 het 864.72 92 15 51217361 . T C 864.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.167;DP=92;Dels=0.00;FS=0.827;HRun=4;HaplotypeScore=1.7128;MQ=58.93;MQ0=0;MQRankSum=0.559;QD=9.40;ReadPosRankSum=-0.749;VQSLOD=6.5038;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,38:92:99:895,0,1435 15 51294832 51294832 G A exonic AP4E1 synonymous SNV AP4E1:NM_001252127:exon21:c.G3162A:p.Q1054Q,AP4E1:NM_007347:exon21:c.G3387A:p.Q1129Q 0.2 0.067 0.2 0.47 0.22 0.11 0.2206 0.1033 0.1777 0.4511 0.2540 0.2319 0.2324 0.1443 0.19 0.11 0.23 0.15 0.28 rs3825798 . . other not_specified RCV000116364.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2213 0.0961 0.1752 0.1588 0.4467 0.2542 0.2371 0.2307 0.1445 0.2187 0.0951 0.1814 0.1722 0.4708 0.2590 0.2556 0.2429 het 1626.18 136 15 51294832 . G A 1626.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.622;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7261;MQ=58.97;MQ0=0;MQRankSum=0.401;QD=11.96;ReadPosRankSum=0.682;VQSLOD=5.9083;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,60:136:99:1656,0,2141 15 51529112 51529112 T C exonic CYP19A1 synonymous SNV CYP19A1:NM_001347256:exon2:c.A240G:p.V80V,CYP19A1:NM_000103:exon3:c.A240G:p.V80V,CYP19A1:NM_001347248:exon3:c.A240G:p.V80V,CYP19A1:NM_001347249:exon3:c.A240G:p.V80V,CYP19A1:NM_001347250:exon3:c.A240G:p.V80V,CYP19A1:NM_001347251:exon3:c.A240G:p.V80V,CYP19A1:NM_001347252:exon3:c.A240G:p.V80V,CYP19A1:NM_001347253:exon3:c.A240G:p.V80V,CYP19A1:NM_001347254:exon3:c.A240G:p.V80V,CYP19A1:NM_001347255:exon3:c.A240G:p.V80V,CYP19A1:NM_031226:exon4:c.A240G:p.V80V 0.33 0.16 0.32 0.44 0.47 0.29 0.4253 0.2101 0.2860 0.4349 0.4959 0.4980 0.4559 0.3295 0.4 0.21 0.5 0.24 0.51 rs700518 COSM147905 1(stomach);1(prostate) Benign Aromatase_deficiency RCV000350431.1 MedGen:OMIM:Orphanet C0878680:613546:ORPHA91 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4266 0.2027 0.2911 0.5073 0.4348 0.4976 0.5006 0.4524 0.3306 0.4174 0.1972 0.3098 0.5099 0.4479 0.4997 0.5236 0.4693 hom 4578.18 158 15 51529112 . T C 4578.18 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3973;MQ=59.47;MQ0=0;QD=28.98;VQSLOD=7.5984;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4578,346,0 15 51689772 51689772 G A exonic GLDN nonsynonymous SNV GLDN:NM_001330297:exon6:c.G422A:p.S141N,GLDN:NM_181789:exon6:c.G794A:p.S265N 0.3 0.22 0.18 0.49 0.32 0.27 0.3274 0.2299 0.1501 0.4917 0.4083 0.3510 0.3870 0.2942 0.3 0.23 0.33 0.26 0.21 rs17648128 COSM4998022 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.445 N 1 0.090 P -0.88 0.014 N -3.23 0.961 D 0.39 0.036 N 0.021 0.008 -0.986 0.335 T 0.000 0.000 T . . . 2.023 0.304 16.36 0.244 0.011 0.007 0.031 N c -0.755 -0.488 0.974 0.295 0.497 0.185 0 4.05 0.462 1.928 0.395 0.168 0.246 0.943 0.325 0.997 0.653 8.526 0.323 . ENSG00000104112.4 Testis 0.3152 0.2158 0.1491 0.2568 0.4745 0.4228 0.3444 0.3095 0.2930 0.3298 0.2163 0.1742 0.2417 0.4743 0.4217 0.3659 0.3858 hom 1519.65 51 15 51689772 . G A 1519.65 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=29.80;VQSLOD=9.3329;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1553,126,0 15 51783820 51783820 T C exonic DMXL2 synonymous SNV DMXL2:NM_001174117:exon18:c.A3000G:p.G1000G,DMXL2:NM_001174116:exon20:c.A4908G:p.G1636G,DMXL2:NM_015263:exon20:c.A4908G:p.G1636G 0.45 0.43 0.49 0.4 0.52 0.4 0.4947 0.4651 0.5335 0.4206 0.5404 0.5171 0.4901 0.4163 0.49 0.46 0.51 0.43 0.41 rs10851500 COSM147907 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4937 0.4703 0.5210 0.3886 0.4120 0.5475 0.5201 0.4741 0.4239 0.5167 0.4803 0.5036 0.3675 0.4149 0.5502 0.5436 0.5338 hom 4571.22 153 15 51783820 . T C 4571.22 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=58.89;MQ0=0;QD=29.88;VQSLOD=8.6029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4571,343,0 15 51791559 51791559 A G exonic DMXL2 nonsynonymous SNV DMXL2:NM_001174116:exon18:c.T3862C:p.S1288P,DMXL2:NM_015263:exon18:c.T3862C:p.S1288P 0.44 0.39 0.49 0.41 0.51 0.41 0.4925 0.4391 0.5315 0.4247 0.5406 0.5169 0.4879 0.4162 0.48 0.43 0.5 0.41 0.42 rs12102203 COSM147908 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(pancreas);6(prostate);1(large_intestine) . . . . . . . . . . . 0.231 0.182 T 0.0 0.026 B 0.0 0.013 B 0.232 0.159 N 1 0.182 P 0.4 0.123 N 1.98 0.219 T -0.02 0.073 N 0.02 0.037 -0.935 0.434 T 0.000 0.000 T . . . -0.603 0.050 0.123 0.873 0.165 0.218 0.213 N c -0.841 -0.763 0.109 0.166 0.657 0.484 0 1.7 0.232 0.269 0.182 0.104 0.200 0.670 0.281 0.412 0.256 9.326 0.370 RAVE complex protein Rav1 C-terminal ENSG00000104093.9|ENSG00000104093.9|ENSG00000259668.1|ENSG00000104112.4 Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis|Nerve_Tibial|Testis 0.4923 0.4416 0.5208 0.3887 0.4164 0.5473 0.5202 0.4741 0.4248 0.5093 0.4533 0.5024 0.3675 0.4171 0.5504 0.5440 0.5307 hom 8157.21 247 15 51791559 . A G 8157.21 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.32;MQ0=0;QD=33.03;VQSLOD=9.8017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:247:99:8156,632,0 15 51795172 51795172 G A exonic DMXL2 synonymous SNV DMXL2:NM_001174116:exon17:c.C2823T:p.N941N,DMXL2:NM_015263:exon17:c.C2823T:p.N941N 0.41 0.3 0.48 0.41 0.52 0.41 0.4839 0.3522 0.5279 0.4234 0.5396 0.5159 0.4835 0.4159 0.45 0.35 0.5 0.37 0.41 rs12592889 COSM147909 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4855 0.3551 0.5159 0.3829 0.4151 0.5471 0.5195 0.4695 0.4245 0.4834 0.3636 0.5024 0.3642 0.4183 0.5499 0.5429 0.5307 hom 3020.86 97 15 51795172 . G A 3020.86 Mask AC=2;AF=1.00;AN=2;DP=97;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=31.14;VQSLOD=8.9345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3054,244,0 15 51868373 51868373 A G exonic DMXL2 synonymous SNV DMXL2:NM_001174116:exon2:c.T93C:p.Y31Y,DMXL2:NM_001174117:exon2:c.T93C:p.Y31Y,DMXL2:NM_015263:exon2:c.T93C:p.Y31Y 0.45 0.45 0.49 0.4 0.51 0.4 0.4987 0.4820 0.5349 0.4220 0.5400 0.5199 0.4921 0.4219 0.49 0.47 0.51 0.45 0.38 rs2414105 COSM5038370 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4732 0.4465 0.4698 0.3843 0.3357 0.5595 0.5069 0.4481 0.3991 0.4599 0.4557 0.4133 0.3259 0.3553 0.3581 0.4931 0.4554 hom 1228.26 36 15 51868373 . A G 1228.26 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.36;MQ0=0;QD=34.12;VQSLOD=9.8062;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1261,105,0 15 51914662 51914662 G A exonic DMXL2 synonymous SNV DMXL2:NM_001174116:exon1:c.C81T:p.P27P,DMXL2:NM_001174117:exon1:c.C81T:p.P27P,DMXL2:NM_015263:exon1:c.C81T:p.P27P 0.41 0.36 0.49 0.33 0.51 0.4 0.4998 0.4354 0.5942 0.4379 0.6228 0.5390 0.4809 0.4351 0.45 0.37 0.48 0.42 0.21 rs2278990 COSM4128290 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4664 0.3897 0.5041 0.3850 0.3106 0.5425 0.4991 0.4527 0.4222 0.4923 0.4117 0.4988 0.3709 0.3323 0.5499 0.5429 0.5265 hom 373.55 14 15 51914662 . G A 373.55 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.68;VQSLOD=13.0747;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:30.10:407,30,0 15 51914716 51914716 T C exonic DMXL2 synonymous SNV DMXL2:NM_001174116:exon1:c.A27G:p.G9G,DMXL2:NM_001174117:exon1:c.A27G:p.G9G,DMXL2:NM_015263:exon1:c.A27G:p.G9G 0.41 0.36 0.49 0.33 0.52 0.4 0.5078 0.4389 0.5924 0.4425 0.6085 0.5476 0.4859 0.4358 0.45 0.38 0.49 0.42 0.26 rs2278989 COSM4128291 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4718 0.3964 0.5084 0.3856 0.3157 0.5445 0.5061 0.4593 0.4246 0.4930 0.4130 0.4988 0.3709 0.3333 0.5502 0.5434 0.5267 hom 384.52 13 15 51914716 . T C 384.52 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=29.58;VQSLOD=8.5132;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:33.09:418,33,0 15 52531941 52531941 A G exonic MYO5C synonymous SNV MYO5C:NM_018728:exon21:c.T2692C:p.L898L 0.59 0.5 0.72 0.31 0.94 0.57 0.7978 0.5295 0.6993 0.2867 0.9400 0.9376 0.8552 0.6668 0.82 0.56 0.94 0.65 0.89 rs11635028 COSM5618857 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8028 0.5148 0.7123 0.9461 0.2921 0.9412 0.9384 0.8580 0.6653 0.7831 0.5244 0.7488 0.9603 0.2932 0.9404 0.9422 0.8686 hom 2569.47 79 15 52531941 . A G 2569.47 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=32.52;VQSLOD=9.7038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2602,199,0 15 52534344 52534344 G A exonic MYO5C synonymous SNV MYO5C:NM_018728:exon20:c.C2457T:p.R819R 0.38 0.14 0.62 0.042 0.82 0.45 0.6533 0.2278 0.6180 0.0345 0.8417 0.8118 0.7494 0.5327 0.64 0.28 0.81 0.39 0.7 rs3751631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6628 0.2155 0.6238 0.8534 0.0339 0.8383 0.8116 0.7391 0.5392 0.6086 0.2276 0.6527 0.8510 0.0302 0.8440 0.8210 0.7592 hom 8323.56 250 15 52534344 . G A 8323.56 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.23;MQ0=0;QD=33.29;VQSLOD=10.0306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8322,698,0 15 52539673 52539673 C T exonic MYO5C synonymous SNV MYO5C:NM_018728:exon15:c.G1863A:p.R621R 0.86 0.69 0.87 0.87 0.99 0.95 0.9466 0.7355 0.8898 0.8774 0.9894 0.9883 0.9733 0.9608 0.91 0.75 0.99 0.85 1. rs10163109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9480 0.7257 0.8930 0.9982 0.8798 0.9890 0.9886 0.9668 0.9604 0.9082 0.7384 0.9234 0.9934 0.8597 0.9851 0.9878 0.9652 hom 5489.29 181 15 52539673 . C T 5489.29 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4328;MQ=59.62;MQ0=0;QD=30.33;VQSLOD=9.1925;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5488,430,0 15 52556429 52556429 A G exonic MYO5C synonymous SNV MYO5C:NM_018728:exon9:c.T1005C:p.N335N 0.97 0.9 1. 1. 1. 1. 0.9921 0.9065 0.9977 1 1 0.9999 0.9967 0.9998 0.97 0.91 1. 1. 0.99 rs4776032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9932 0.9008 0.9963 1 0.9999 1 0.9998 0.9973 0.9998 0.9736 0.9079 0.9952 1 1 1 0.9999 0.9919 hom 1509.15 51 15 52556429 . A G 1509.15 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=29.59;VQSLOD=8.8874;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1542,120,0 15 52667552 52667552 G A exonic MYO5A synonymous SNV MYO5A:NM_000259:exon20:c.C2526T:p.I842I,MYO5A:NM_001142495:exon20:c.C2526T:p.I842I 0.84 0.52 0.97 0.96 1. 0.91 0.9518 0.5965 0.9827 0.9735 0.9995 0.9960 0.9689 0.9310 0.88 0.62 1. 0.86 1. rs2414145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9593 0.5880 0.9831 0.9968 0.9743 0.9993 0.9960 0.9781 0.9321 0.8849 0.6061 0.9809 0.9967 0.9752 0.9994 0.9971 0.9664 hom 4288.55 137 15 52667552 . G A 4288.55 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=31.30;VQSLOD=9.2578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4288,331,0 15 52689526 52689526 T C exonic MYO5A synonymous SNV MYO5A:NM_000259:exon10:c.A1191G:p.T397T,MYO5A:NM_001142495:exon10:c.A1191G:p.T397T 0.96 0.86 0.99 1. 1. 1. 0.9896 0.8787 0.9952 1 1 0.9999 0.9967 0.9998 0.96 0.89 1. 0.98 1. rs2924130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9913 0.8748 0.9950 1 1 1.0000 0.9998 0.9960 0.9998 0.9666 0.8831 0.9940 1 1 1 0.9997 0.9929 hom 3891.22 129 15 52689526 . T C 3891.22 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8928;MQ=58.62;MQ0=0;QD=30.16;VQSLOD=8.9547;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3890,322,0 15 52689631 52689631 T G exonic MYO5A nonsynonymous SNV MYO5A:NM_000259:exon10:c.A1086C:p.E362D,MYO5A:NM_001142495:exon10:c.A1086C:p.E362D 0.89 0.67 0.98 0.98 1. 0.91 0.9629 0.7121 0.9875 0.9824 0.9995 0.9962 0.9744 0.9345 0.91 0.73 1. 0.88 1. rs1724577 COSM4128297;COSM4128296 1(thyroid) . . . . . . . . . . . 0.699 0.054 T 0.0 0.026 B 0.002 0.063 B 0.000 0.629 N 1.000 0.210 P 0.82 0.209 L -2.32 0.878 D 0.01 0.088 N 0.077 0.068 -0.933 0.438 T 0.000 0.000 T . . . -0.211 0.075 1.039 0.815 0.133 0.069 0.127 N c -1.261 -1.195 1.000 0.441 0.706 0.609 0 -4.65 0.031 0.136 0.157 -0.763 0.034 0.967 0.338 0.925 0.399 1.965 0.032 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.9686 0.7071 0.9873 0.9975 0.9820 0.9993 0.9963 0.9836 0.9360 0.9169 0.7173 0.9881 0.9967 0.9784 0.9994 0.9972 0.9786 hom 4468.68 144 15 52689631 . T G 4468.68 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8628;MQ=59.33;MQ0=0;QD=31.03;VQSLOD=9.0284;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4468,343,0 15 52901433 52901433 C T exonic FAM214A nonsynonymous SNV FAM214A:NM_001286495:exon5:c.G1699A:p.V567I,FAM214A:NM_019600:exon6:c.G1678A:p.V560I 0.44 0.27 0.61 0.11 0.74 0.55 0.6249 0.3353 0.5977 0.1078 0.7769 0.7281 0.6828 0.6010 0.62 0.36 0.73 0.38 . rs12915981 COSM4417801 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.259 0.153 N 1 0.090 P 1.61 0.413 L 1.59 0.288 T -0.01 0.072 N 0.107 0.114 -1.026 0.217 T 0.000 0.000 T . . . -2.865 0.002 0.001 0.137 0.003 0.017 0.053 N c -1.570 -1.498 0.061 0.152 0.563 0.310 0 -0.639 0.109 0.445 0.212 -0.210 0.100 0.626 0.277 0.336 0.243 6.961 0.236 . ENSG00000259935.1 Brain_Cerebellum 0.6302 0.3287 0.6123 0.6531 0.1048 0.7776 0.7331 0.6686 0.6009 0.5960 0.3390 0.6355 0.7020 0.0975 0.7775 0.7454 0.7 hom 1288.26 38 15 52901433 . C T 1288.26 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.90;VQSLOD=13.8027;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1321,108,0 15 52901638 52901638 T C exonic FAM214A synonymous SNV FAM214A:NM_001286495:exon5:c.A1494G:p.Q498Q,FAM214A:NM_019600:exon6:c.A1473G:p.Q491Q 0.42 0.2 0.61 0.11 0.74 0.55 0.6197 0.2763 0.5978 0.1067 0.7788 0.7282 0.6815 0.6016 0.6 0.33 0.73 0.34 . rs3751614 COSM147915 1(breast);1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6268 0.2715 0.6113 0.6530 0.1045 0.7780 0.7337 0.6661 0.6010 0.5793 0.2820 0.6325 0.7020 0.0951 0.7773 0.7455 0.6922 hom 6274.32 195 15 52901638 . T C 6274.32 Mask AC=2;AF=1.00;AN=2;DP=195;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4303;MQ=59.78;MQ0=0;QD=32.18;VQSLOD=8.6112;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,194:195:99:6274,482,0 15 52901977 52901977 G A exonic FAM214A synonymous SNV FAM214A:NM_001286495:exon5:c.C1155T:p.A385A,FAM214A:NM_019600:exon6:c.C1134T:p.A378A 0.42 0.2 0.61 0.11 0.74 0.55 0.6195 0.2762 0.5973 0.1066 0.7783 0.7279 0.6808 0.6012 0.6 0.31 0.73 0.34 . rs2414166 COSM147916 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6266 0.2714 0.6113 0.6536 0.1043 0.7779 0.7334 0.6661 0.6007 0.5811 0.2846 0.6307 0.7020 0.0959 0.7779 0.7457 0.6935 hom 1735.91 61 15 52901977 . G A 1735.91 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9981;MQ=58.38;MQ0=0;QD=28.46;VQSLOD=8.3018;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1769,132,0 15 54003091 54003091 G A exonic WDR72 nonsynonymous SNV WDR72:NM_182758:exon9:c.C917T:p.P306L 0.32 0.16 0.32 0.2 0.49 0.48 0.4113 0.2063 0.2891 0.1973 0.3273 0.4857 0.4251 0.4706 0.4 0.22 0.5 0.26 0.57 rs551225 COSM3754358 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign not_specified|Amelogenesis_Imperfecta\x2c_Recessive RCV000252256.1|RCV000395326.1 MedGen|MedGen CN169374|CN239209 . . . . . . 0.012 0.546 D 1.0 0.899 D 0.984 0.745 D 0.000 0.843 D 0.000 0.588 P 2.34 0.674 M 2.24 0.464 T -5.14 0.833 D 0.299 0.800 -0.868 0.507 T 0.000 0.000 T . . . 4.809 0.645 24.8 0.999 0.958 0.967 0.702 D c 0.740 0.756 1.000 0.747 0.554 0.246 0 5.58 0.843 6.452 0.732 1.048 0.713 1.000 0.715 1.000 0.888 18.919 0.925 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain ENSG00000166415.10 Testis 0.4107 0.2017 0.3038 0.6156 0.1948 0.3343 0.4842 0.4417 0.4698 0.3648 0.2093 0.3597 0.6093 0.1689 0.3349 0.4758 0.4122 het 1147.84 89 15 54003091 . G A 1147.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.948;DP=89;Dels=0.00;FS=4.008;HRun=1;HaplotypeScore=0.9469;MQ=59.58;MQ0=0;MQRankSum=0.554;QD=12.90;ReadPosRankSum=2.614;VQSLOD=4.7218;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,44:89:99:1178,0,1112 15 54008845 54008845 T C exonic WDR72 nonsynonymous SNV WDR72:NM_182758:exon4:c.A298G:p.M100V 0.96 0.86 0.98 1. 1. 1. 0.9882 0.8695 0.9961 1 1 0.9996 0.9978 0.9998 0.96 0.88 1. 0.92 1. rs690346 . . Benign|Benign not_specified|Amelogenesis_Imperfecta\x2c_Recessive RCV000242733.1|RCV000360705.1 MedGen|MedGen CN169374|CN239209 . . . . . . 0.869 0.037 T 0.0 0.026 B 0.0 0.013 B 0.006 0.324 N 1.000 0.090 P -0.57 0.023 N 1.26 0.363 T 1.0 0.016 N 0.03 0.064 -0.974 0.364 T 0.000 0.000 T . . . -0.023 0.091 2.367 0.824 0.137 0.236 0.219 N c -0.893 -0.635 0.025 0.136 0.526 0.212 0 2.26 0.273 0.922 0.282 0.066 0.173 1.000 0.715 0.980 0.490 8.131 0.300 Quinoprotein alcohol dehydrogenase-like superfamily|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.9908 0.8682 0.9950 0.9989 1 1 0.9997 0.9936 0.9997 0.9640 0.8741 0.9952 1 1 1 0.9994 0.9949 hom 4462.45 158 15 54008845 . T C 4462.45 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.82;MQ0=0;QD=28.24;VQSLOD=8.0888;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4461,355,0 15 54306925 54306925 G A exonic UNC13C nonsynonymous SNV UNC13C:NM_001080534:exon1:c.G1825A:p.G609S,UNC13C:NM_001329919:exon2:c.G1825A:p.G609S 0.98 0.94 0.99 1. 1. 1. 0.9954 0.9475 0.9978 1 1 0.9999 0.9989 0.9999 0.98 0.95 1. 1. . rs12437941 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.79 0.003 N -1.05 0.767 T 1.13 0.012 N 0.009 0.022 -0.967 0.377 T 0.000 0.000 T . . . -1.755 0.012 0.002 0.089 0.001 0.058 0.116 N c -1.303 -1.268 0.000 0.029 0.487 0.133 0 0.513 0.161 1.168 0.313 -0.121 0.113 0.007 0.175 0.000 0.016 11.029 0.468 . . . 0.9960 0.9451 0.9963 1 1 1 0.9999 0.9989 0.9999 0.9837 0.9428 0.9976 1 1 1 0.9999 0.9969 hom 5698.19 179 15 54306925 . G A 5698.19 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=58.93;MQ0=0;QD=31.83;VQSLOD=9.3980;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5698,442,0 15 54786879 54786879 T C exonic UNC13C synonymous SNV UNC13C:NM_001080534:exon18:c.T5007C:p.N1669N,UNC13C:NM_001329919:exon19:c.T5001C:p.N1667N 0.059 0.0008 0.19 0.083 0.019 0.061 0.0420 0.0068 0.1773 0.0813 0.0289 0.0186 0.0345 0.0479 0.016 0.0082 0.019 0.043 . rs78088948 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0475 0.0058 0.1686 0.0014 0.0869 0.0291 0.0195 0.0385 0.0471 0.0256 0.0048 0.1348 0.0033 0.1001 0.0295 0.0221 0.0409 het 1478.80 106 15 54786879 . T C 1478.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.972;DP=106;Dels=0.00;FS=1.984;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=0.025;QD=13.95;ReadPosRankSum=1.290;VQSLOD=6.0449;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,55:106:99:1509,0,1338 15 54847677 54847677 C T exonic UNC13C synonymous SNV UNC13C:NM_001080534:exon27:c.C5925T:p.C1975C,UNC13C:NM_001329919:exon28:c.C5919T:p.C1973C 0.41 0.12 0.46 0.54 0.44 0.59 0.4458 0.17 0.4520 0.5578 0.5495 0.4433 0.4582 0.5128 0.35 0.17 0.43 0.36 . rs11639005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4481 0.1643 0.4506 0.3432 0.5547 0.5386 0.4453 0.4310 0.5082 0.3959 0.1683 0.4568 0.3079 0.5534 0.5367 0.4717 0.4827 het 590.65 64 15 54847677 . C T 590.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.156;DP=64;Dels=0.00;FS=3.431;HRun=0;HaplotypeScore=2.7302;MQ=57.65;MQ0=0;MQRankSum=-0.007;QD=9.23;ReadPosRankSum=0.129;VQSLOD=4.7194;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,28:64:99:621,0,906 15 55489065 55489065 G A exonic RSL24D1 synonymous SNV RSL24D1:NM_016304:exon1:c.C24T:p.F8F 0.27 0.55 0.13 0.14 0.19 0.21 0.2043 0.5066 0.0994 0.1225 0.1721 0.1852 0.2024 0.2203 0.29 0.48 0.19 0.23 0.18 rs9300 COSM147918 1(breast);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1952 0.5092 0.1063 0.1449 0.1240 0.1802 0.1900 0.1894 0.2232 0.2662 0.5013 0.1295 0.1067 0.1093 0.1651 0.1857 0.1920 het 891.32 105 15 55489065 . G A 891.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.452;DP=105;Dels=0.00;FS=1.672;HRun=3;HaplotypeScore=1.7781;MQ=59.78;MQ0=0;MQRankSum=0.553;QD=8.49;ReadPosRankSum=0.292;VQSLOD=6.3530;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,37:105:99:921,0,1658 15 55632859 55632859 G T exonic PIGB nonsynonymous SNV PIGB:NM_004855:exon8:c.G896T:p.W299L 0.6 0.89 0.41 0.76 0.35 0.44 0.4227 0.7942 0.4429 0.7589 0.2989 0.3292 0.3867 0.4260 0.47 0.77 0.33 0.6 . rs678892 COSM3754368 1(large_intestine) . . . . . . . . . . . 0.742 0.037 T 0.0 0.026 B 0.0 0.013 B 0.006 0.327 N 1.000 0.186 P -3.365 0.000 N 0.17 0.605 T 2.6 0.002 N 0.074 0.064 -0.937 0.432 T 0.000 0.000 T . . . 1.954 0.296 15.92 0.928 0.218 0.185 0.201 N c -1.011 -0.691 0.988 0.313 0.732 0.924 0 4.82 0.615 3.041 0.492 0.152 0.238 1.000 0.715 0.912 0.389 8.226 0.306 . ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000225973.3|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5|ENSG00000225973.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Spleen|Uterus|Whole_Blood 0.4058 0.7952 0.4259 0.3568 0.7681 0.2981 0.3169 0.3804 0.4090 0.4806 0.7970 0.4555 0.3444 0.7718 0.3028 0.3193 0.3497 het 461.97 39 15 55632859 . G T 461.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.992;DP=39;Dels=0.00;FS=1.264;HRun=1;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=-0.183;QD=11.85;ReadPosRankSum=2.149;VQSLOD=5.8753;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,19:39:99:492,0,510 15 55652187 55652187 T C exonic CCPG1 nonsynonymous SNV CCPG1:NM_001204450:exon8:c.A1784G:p.E595G,CCPG1:NM_004748:exon8:c.A1784G:p.E595G,CCPG1:NM_020739:exon8:c.A1784G:p.E595G 0.0006 . . . . 0.0031 0.0009 0.0004 8.684e-05 0 0.0005 0.0012 0.0011 0.0013 0.0014 0.0006 0.0018 . . rs201970644 . . . . . . . . . . . . . 0.202 0.215 T 0.01 0.144 B 0.006 0.112 B 0.587 0.111 N 0.997 0.233 N 1.545 0.392 L 3.78 0.039 T -0.68 0.195 N 0.064 0.278 -0.926 0.447 T 0.008 0.029 T 0.002 0.047 T 0.617 0.153 8.275 0.908 0.195 0.437 0.269 N c -0.803 -0.710 1.000 0.410 0.732 0.924 0 -2.11 0.068 0.420 0.208 0.122 0.211 0.048 0.211 0.993 0.574 0.300 0.003 . . . 0.0009 0.0004 0.0002 0 0 0.0003 0.0016 0.0007 0.0010 0.0008 0.0006 0 0 0 0 0.0014 0 het 3777 206 15 55652187 . T C 3777 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.895;DP=206;Dels=0.00;FS=6.006;HRun=1;HaplotypeScore=2.9930;MQ=58.77;MQ0=0;MQRankSum=0.446;QD=18.33;ReadPosRankSum=-0.902;VQSLOD=2.5891;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,121:206:99:3301,0,1990 15 55789910 55789910 C T exonic DNAAF4 nonsynonymous SNV DNAAF4:NM_001033559:exon3:c.G271A:p.V91I,DNAAF4:NM_001033560:exon3:c.G271A:p.V91I,DNAAF4:NM_130810:exon3:c.G271A:p.V91I 0.022 0.0053 0.025 . 0.06 0.027 0.0481 0.0138 0.0365 0.0002 0.0475 0.0624 0.0557 0.0443 0.051 0.014 0.07 0.022 0.066 rs17819126 COSM4986821;COSM4986820 1(soft_tissue) Benign Primary_ciliary_dyskinesia RCV000469255.1 MedGen:Orphanet C0008780:ORPHA244 . . . . . . 0.511 0.083 T 0.015 0.158 B 0.009 0.173 B 0.008 0.311 U 0.657 0.330 D 2.635 0.774 M 1.57 0.293 T -0.13 0.093 N 0.184 0.225 -1.058 0.122 T 0.004 0.014 T . . . 2.003 0.302 16.23 0.940 0.234 0.847 0.435 D c -0.236 -0.080 1.000 0.747 0.609 0.349 0 4.72 0.591 1.760 0.378 0.070 0.177 0.991 0.370 0.753 0.322 10.073 0.413 HSP20-like chaperone ENSG00000069943.5|ENSG00000256061.3|ENSG00000069943.5|ENSG00000256061.3|ENSG00000069943.5|ENSG00000069943.5|ENSG00000069943.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung 0.0473 0.0115 0.0316 0.0450 0.0001 0.0531 0.0638 0.0538 0.0428 0.0449 0.0125 0.0346 0.0464 0 0.0581 0.0649 0.0613 het 1113.37 120 15 55789910 . C T 1113.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.048;DP=120;Dels=0.00;FS=7.828;HRun=0;HaplotypeScore=4.8233;MQ=59.48;MQ0=0;MQRankSum=0.435;QD=9.28;ReadPosRankSum=-0.699;VQSLOD=4.4275;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,47:120:99:1143,0,1947 15 56152729 56152729 T C exonic NEDD4 nonsynonymous SNV NEDD4:NM_198400:exon4:c.A1877G:p.N626S,NEDD4:NM_001284340:exon6:c.A2042G:p.N681S,NEDD4:NM_001284338:exon7:c.A2093G:p.N698S,NEDD4:NM_001284339:exon7:c.A2045G:p.N682S,NEDD4:NM_001329212:exon11:c.A395G:p.N132S,NEDD4:NM_006154:exon11:c.A836G:p.N279S 0.67 0.62 0.64 0.6 0.76 0.76 0.7415 0.6163 0.6564 0.5853 0.7135 0.7936 0.75 0.7618 0.73 0.61 0.8 0.66 0.78 rs2303579 COSM3999567;COSM3999566 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.025 T 0.001 0.067 B 0.002 0.063 B 0.985 0.081 N 1 0.090 P -0.38 0.030 N 2.2 0.192 T 0.45 0.087 N 0.003 0.029 -1.025 0.221 T 0.000 0.000 T . . . -2.259 0.005 0.001 0.333 0.020 0.301 0.238 N c -1.203 -1.260 1.000 0.747 0.707 0.730 0 -6.96 0.015 -0.167 0.098 -0.852 0.029 0.804 0.295 0.346 0.245 6.907 0.233 WW domain ENSG00000166450.8 Artery_Tibial 0.7388 0.6087 0.6655 0.7925 0.5863 0.7184 0.7959 0.7428 0.7589 0.7226 0.6077 0.6730 0.8079 0.5798 0.7348 0.8009 0.7520 hom 3297.67 103 15 56152729 . T C 3297.67 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.82;MQ0=0;QD=32.02;VQSLOD=9.3810;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3297,253,0 15 56152872 56152872 C T exonic NEDD4 nonsynonymous SNV NEDD4:NM_198400:exon3:c.G1820A:p.R607Q,NEDD4:NM_001284340:exon5:c.G1985A:p.R662Q,NEDD4:NM_001284338:exon6:c.G2036A:p.R679Q,NEDD4:NM_001284339:exon6:c.G1988A:p.R663Q,NEDD4:NM_001329212:exon10:c.G338A:p.R113Q,NEDD4:NM_006154:exon10:c.G779A:p.R260Q 0.67 0.62 0.64 0.6 0.76 0.76 0.7413 0.6161 0.6557 0.5850 0.7133 0.7935 0.7467 0.7619 0.73 0.61 0.8 0.66 0.78 rs2303580 COSM3999568;COSM3999569 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.099 0.419 T 0.632 0.411 P 0.064 0.303 B 0.106 0.026 N 0.000 0.493 P 2.035 0.558 M 2.1 0.204 T -0.94 0.370 N 0.023 0.169 -0.921 0.454 T 0.000 0.000 T . . . 3.404 0.467 23.0 0.997 0.774 0.848 0.436 D c -0.301 -0.235 1.000 0.747 0.707 0.730 0 2.75 0.313 2.079 0.410 0.887 0.390 0.845 0.301 0.951 0.427 10.245 0.423 WW domain ENSG00000166450.8 Artery_Tibial 0.7386 0.6084 0.6650 0.7923 0.5859 0.7182 0.7958 0.7425 0.7587 0.7224 0.6076 0.6730 0.8079 0.5796 0.7348 0.8009 0.7495 hom 4951.21 155 15 56152872 . C T 4951.21 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=59.52;MQ0=0;QD=31.94;VQSLOD=9.6172;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4951,385,0 15 56207983 56207983 C T exonic NEDD4 synonymous SNV NEDD4:NM_001284338:exon1:c.G1047A:p.S349S,NEDD4:NM_001284339:exon1:c.G1047A:p.S349S,NEDD4:NM_001284340:exon1:c.G1047A:p.S349S,NEDD4:NM_198400:exon1:c.G1047A:p.S349S 0.18 0.1 0.34 0.1 0.27 0.16 0.2581 0.1371 0.3416 0.1355 0.3259 0.2940 0.2533 0.1655 0.23 0.14 0.28 0.12 0.26 rs7174459 COSM5445631 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2643 0.1284 0.3406 0.3721 0.1305 0.3237 0.2856 0.2690 0.1682 0.2486 0.1358 0.3230 0.36 0.1347 0.3213 0.3006 0.2882 het 616.81 62 15 56207983 . C T 616.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.004;DP=62;Dels=0.00;FS=5.213;HRun=0;HaplotypeScore=0.8941;MQ=58.88;MQ0=0;MQRankSum=0.121;QD=9.95;ReadPosRankSum=-0.464;VQSLOD=5.3390;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,26:62:99:647,0,938 15 56386577 56386577 T G exonic RFX7 nonsynonymous SNV RFX7:NM_022841:exon9:c.A3349C:p.N1117H 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 1. . rs7170589 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 6680.41 201 15 56386577 . T G 6680.41 Mask AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4167;MQ=59.43;MQ0=0;QD=33.24;VQSLOD=9.5586;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,201:201:99:6680,515,0 15 56387931 56387931 C T exonic RFX7 synonymous SNV RFX7:NM_022841:exon9:c.G1995A:p.Q665Q 0.96 0.86 0.99 1. 1. 1. 0.9899 0.8825 0.9974 1 1 0.9996 0.9933 0.9999 0.96 0.88 1. 0.95 . rs11071247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9919 0.8832 0.9962 1 1 1 0.9996 0.9958 0.9999 0.9689 0.8907 0.9988 1 1 1 0.9999 0.9929 hom 4401.74 134 15 56387931 . C T 4401.74 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=3.9267;MQ=58.93;MQ0=0;QD=32.61;VQSLOD=8.6068;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4401,340,0 15 56923714 56923714 G A exonic ZNF280D synonymous SNV ZNF280D:NM_001002843:exon21:c.C2883T:p.D961D,ZNF280D:NM_001288588:exon22:c.C2922T:p.D974D,ZNF280D:NM_017661:exon22:c.C2922T:p.D974D 0.99 0.96 1. 1. 1. 1. 0.9965 0.9605 0.9991 1 1 0.9999 0.9989 1 0.99 0.96 1. 0.98 1. rs8043381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9608 0.9985 0.9999 1 1 0.9999 0.9982 0.9999 0.9888 0.9605 1 1 1 1 1 0.9969 hom 6250.76 200 15 56923714 . G A 6250.76 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8882;MQ=58.91;MQ0=0;QD=31.25;VQSLOD=8.0369;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6250,488,0 15 56923895 56923895 C A exonic ZNF280D nonsynonymous SNV ZNF280D:NM_001002843:exon21:c.G2702T:p.G901V,ZNF280D:NM_001288588:exon22:c.G2741T:p.G914V,ZNF280D:NM_017661:exon22:c.G2741T:p.G914V 0.007 0.0015 0.0043 . 0.024 0.0061 0.0161 0.0052 0.0068 0.0001 0.0148 0.0235 0.0177 0.0083 0.018 0.0059 0.024 0.011 0.049 rs61741526 . . . . . . . . . . . . . 0.001 0.784 D 0.981 0.577 D 0.77 0.550 P 0.000 0.002 N 1.000 0.511 D 2.565 0.752 M 3.56 0.047 T -2.1 0.478 N 0.115 0.450 -1.072 0.089 T 0.012 0.048 T . . . 5.068 0.683 25.3 0.994 0.625 0.857 0.446 D c 0.164 0.154 0.999 0.371 0.706 0.609 0 1.7 0.232 2.273 0.428 0.919 0.430 1.000 0.715 0.999 0.750 7.420 0.261 . . . 0.0159 0.0051 0.0078 0.0078 0 0.0190 0.0242 0.0159 0.0091 0.0153 0.0030 0.0060 0.0066 0 0.0186 0.0238 0.0204 het 1915.44 152 15 56923895 . C A 1915.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.710;DP=152;Dels=0.00;FS=0.636;HRun=0;HaplotypeScore=2.3017;MQ=59.54;MQ0=0;MQRankSum=-0.643;QD=12.60;ReadPosRankSum=1.105;VQSLOD=5.6705;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,72:152:99:1945,0,2146 15 57731335 57731335 A C exonic CGNL1 nonsynonymous SNV CGNL1:NM_032866:exon2:c.A1138C:p.T380P,CGNL1:NM_001252335:exon3:c.A1138C:p.T380P 0.99 0.98 1. 1. 1. 1. 0.9986 0.9841 0.9993 1 1 1 1 1 0.99 0.98 1. 1. 1. rs1280395 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.355 N 1.000 0.201 P -1.895 0.002 N 1.32 0.352 T 3.07 0.001 N 0.04 0.020 -0.941 0.425 T 0.000 0.000 T . . . -0.585 0.051 0.136 0.167 0.005 0.098 0.153 N c -1.125 -0.883 1.000 0.747 0.732 0.924 0 4.87 0.627 3.880 0.556 0.056 0.163 0.956 0.331 0.949 0.424 13.442 0.604 . . . 0.9989 0.9839 0.9994 1 1 1 1 1 1 0.9960 0.9860 1 1 1 1 0.9999 0.9990 hom 5457.07 168 15 57731335 . A C 5457.07 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.048;DP=168;Dels=0.00;FS=4.616;HRun=1;HaplotypeScore=1.9937;MQ=59.74;MQ0=0;MQRankSum=-0.073;QD=32.48;ReadPosRankSum=0.653;VQSLOD=4.7069;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,167:168:99:5421,395,0 15 57731573 57731573 C T exonic CGNL1 nonsynonymous SNV CGNL1:NM_032866:exon2:c.C1376T:p.S459F,CGNL1:NM_001252335:exon3:c.C1376T:p.S459F 0.19 0.19 0.16 0.2 0.21 0.18 0.2025 0.2037 0.1370 0.2253 0.1891 0.2135 0.2078 0.1971 0.21 0.21 0.22 0.2 0.19 rs7182648 . . . . . . . . . . . . . 0.077 0.341 T 0.325 0.314 B 0.11 0.299 B 0.000 0.002 N 1 0.090 P 0 0.065 N 3.26 0.067 T -0.92 0.247 N 0.075 0.065 -0.974 0.364 T 0.000 0.000 T . . . 0.956 0.185 10.41 0.685 0.084 0.277 0.231 N c -0.645 -0.647 1.000 0.747 0.745 0.986 0 4.4 0.522 0.742 0.257 0.032 0.150 0.000 0.063 0.002 0.062 3.816 0.083 . . . 0.2002 0.2027 0.1434 0.2364 0.2292 0.1943 0.2110 0.2179 0.1951 0.1975 0.2007 0.1758 0.2450 0.2398 0.1933 0.1921 0.1994 het 1027.19 78 15 57731573 . C T 1027.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.007;DP=78;Dels=0.00;FS=1.883;HRun=1;HaplotypeScore=0.8321;MQ=59.41;MQ0=0;MQRankSum=0.767;QD=13.17;ReadPosRankSum=0.657;VQSLOD=6.8234;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,36:78:99:1057,0,1245 15 57731728 57731728 A G exonic CGNL1 nonsynonymous SNV CGNL1:NM_032866:exon2:c.A1531G:p.T511A,CGNL1:NM_001252335:exon3:c.A1531G:p.T511A 0.86 0.89 0.89 0.85 0.83 0.86 0.8463 0.8899 0.8875 0.8350 0.8435 0.8266 0.8381 0.8774 0.85 0.89 0.83 0.86 0.8 rs1280396 . . . . . . . . . . . . . 0.592 0.058 T 0.0 0.026 B 0.0 0.013 B 0.635 0.058 N 1 0.090 P -0.69 0.019 N 3.26 0.067 T 0.25 0.045 N 0.016 0.003 -1.007 0.280 T 0.000 0.000 T . . . -1.081 0.029 0.011 0.340 0.021 0.012 0.041 N c -1.300 -1.245 0.993 0.330 0.732 0.924 0 1.46 0.217 0.542 0.228 -0.309 0.079 0.000 0.063 0.000 0.016 1.489 0.023 . . . 0.8456 0.8900 0.8811 0.8872 0.8316 0.8421 0.8189 0.8436 0.8776 0.8478 0.8954 0.8604 0.9073 0.85 0.8513 0.8180 0.8374 het 1128.27 114 15 57731728 . A G 1128.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.143;DP=114;Dels=0.00;FS=2.573;HRun=0;HaplotypeScore=0.7887;MQ=59.63;MQ0=0;MQRankSum=0.397;QD=9.90;ReadPosRankSum=-1.811;VQSLOD=6.1077;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,44:114:99:1158,0,1827 15 57918069 57918069 A G exonic GCOM1;MYZAP synonymous SNV GCOM1:NM_001018090:exon5:c.A504G:p.A168A,GCOM1:NM_001018091:exon5:c.A504G:p.A168A,MYZAP:NM_001018100:exon5:c.A504G:p.A168A,GCOM1:NM_001285900:exon5:c.A504G:p.A168A,MYZAP:NM_152451:exon5:c.A504G:p.A168A 0.53 0.58 0.58 0.55 0.4 0.55 0.4731 0.5662 0.6509 0.5855 0.3932 0.3987 0.4570 0.5640 0.46 0.55 0.41 0.46 0.42 rs2069133 COSM4419215;COSM4419216;COSM4419217 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4763 0.5648 0.6341 0.4226 0.5794 0.4046 0.3959 0.4542 0.5666 0.4605 0.5597 0.5525 0.4338 0.5865 0.4158 0.3968 0.4328 hom 2317.20 75 15 57918069 . A G 2317.20 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8773;MQ=58.23;MQ0=0;QD=30.90;VQSLOD=8.8224;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:75:99:2350,187,0 15 57967219 57967219 T C exonic GCOM1;MYZAP synonymous SNV MYZAP:NM_152451:exon11:c.T1173C:p.T391T,GCOM1:NM_001018090:exon12:c.T1257C:p.T419T,GCOM1:NM_001018091:exon12:c.T1257C:p.T419T,MYZAP:NM_001018100:exon12:c.T1257C:p.T419T,GCOM1:NM_001285900:exon12:c.T1257C:p.T419T 1. 1. 1. 1. 1. 1. 1.0000 0.9996 1 1 0.9998 1 1 0.9999 1. 1. 1. 1. 1. rs1991252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9997 1.0000 1 1 1.0000 1.0000 1 0.9999 0.9999 0.9998 1 1 1 1 1 1 hom 1589.69 59 15 57967219 . T C 1589.69 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=26.94;VQSLOD=7.4734;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1623,129,0 15 58000981 58000981 C T exonic GCOM1;POLR2M synonymous SNV POLR2M:NM_015532:exon2:c.C183T:p.A61A,GCOM1:NM_001285900:exon13:c.C1374T:p.A458A 0.5 0.24 0.69 0.4 0.77 0.52 0.6751 0.3249 0.7229 0.4279 0.8198 0.7627 0.6806 0.5749 0.62 0.34 0.77 0.48 0.64 rs1062707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6866 0.3087 0.7323 0.7414 0.4275 0.8214 0.7607 0.7182 0.5782 0.6207 0.3121 0.7220 0.7483 0.4233 0.8111 0.7599 0.7551 hom 2638.25 82 15 58000981 . C T 2638.25 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=56.51;MQ0=0;QD=32.17;VQSLOD=7.8575;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2671,205,0 15 58256127 58256127 C T exonic ALDH1A2 nonsynonymous SNV ALDH1A2:NM_170697:exon7:c.G754A:p.V252I,ALDH1A2:NM_170696:exon8:c.G928A:p.V310I,ALDH1A2:NM_003888:exon9:c.G1042A:p.V348I,ALDH1A2:NM_001206897:exon10:c.G979A:p.V327I 0.37 0.37 0.4 0.31 0.54 0.26 0.4462 0.3870 0.3138 0.3138 0.5478 0.5262 0.4725 0.2804 0.47 0.38 0.52 0.46 0.53 rs4646626 COSM3999573 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.37 0.129 T 0.0 0.147 B 0.0 0.104 B 0.000 0.629 N 1 0.090 P 1.87 0.498 L -1.01 0.762 T -0.71 0.214 N 0.014 0.020 -0.926 0.447 T 0.000 0.000 T . . . 2.958 0.416 22.1 0.982 0.391 0.422 0.266 N c -0.482 -0.293 0.697 0.226 0.706 0.609 0 4.49 0.540 1.980 0.400 0.150 0.237 1.000 0.715 0.998 0.697 8.206 0.304 Aldehyde dehydrogenase N-terminal domain|Aldehyde dehydrogenase domain|Aldehyde/histidinol dehydrogenase;Aldehyde dehydrogenase domain|Aldehyde dehydrogenase\x2c C-terminal|Aldehyde/histidinol dehydrogenase ENSG00000128918.10 Artery_Tibial 0.4419 0.3817 0.3283 0.3989 0.3122 0.5412 0.5317 0.4620 0.2823 0.4684 0.3776 0.3652 0.4338 0.3255 0.5238 0.5294 0.4807 het 1876.68 125 15 58256127 . C T 1876.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.636;DP=125;Dels=0.00;FS=6.933;HRun=0;HaplotypeScore=1.7333;MQ=58.86;MQ0=0;MQRankSum=-0.217;QD=15.01;ReadPosRankSum=-0.076;VQSLOD=5.0746;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,71:125:99:1907,0,1347 15 58471368 58471368 C T exonic AQP9 synonymous SNV AQP9:NM_001320636:exon5:c.C342T:p.I114I,AQP9:NM_020980:exon5:c.C537T:p.I179I 0.84 0.71 0.92 0.81 0.95 0.87 0.9121 0.7733 0.9158 0.8059 0.9395 0.9544 0.9372 0.8690 0.9 0.79 0.96 0.74 0.89 rs2249783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9169 0.7766 0.9189 0.9661 0.8017 0.9433 0.9559 0.9354 0.8690 0.9007 0.7859 0.9344 0.9669 0.7877 0.9442 0.9638 0.9369 hom 2976.55 102 15 58471368 . C T 2976.55 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;QD=29.18;VQSLOD=8.8636;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3010,229,0 15 58476281 58476281 A G exonic AQP9 nonsynonymous SNV AQP9:NM_001320636:exon6:c.A640G:p.T214A,AQP9:NM_020980:exon6:c.A835G:p.T279A 0.84 0.71 0.92 0.83 0.95 0.87 0.9148 0.7741 0.9151 0.8418 0.9398 0.9544 0.9372 0.8697 0.9 0.79 0.96 0.75 0.89 rs1867380 . . . . . . . . . . . . . 0.865 0.026 T 0.0 0.026 B 0.0 0.013 B 0.960 0.077 N 1 0.090 P -0.55 0.024 N -2.35 0.881 D 0.08 0.114 N 0.015 0.015 -0.998 0.306 T 0.000 0.000 T . . . -2.112 0.007 0.001 0.640 0.072 0.002 0.010 N c -1.558 -1.547 1.000 0.473 0.554 0.283 0 -3.7 0.041 0.054 0.140 -0.897 0.027 0.000 0.063 0.015 0.124 9.068 0.354 . . . 0.9199 0.7780 0.9188 0.9661 0.8419 0.9434 0.9560 0.9360 0.8698 0.9033 0.7871 0.9356 0.9669 0.8255 0.9442 0.9642 0.9369 hom 4025.97 118 15 58476281 . A G 4025.97 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.02;MQ0=0;QD=34.12;VQSLOD=9.8043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:4026,313,0 15 58834741 58834741 G T exonic LIPC synonymous SNV LIPC:NM_000236:exon4:c.G465T:p.V155V 0.48 0.55 0.43 0.24 0.56 0.58 0.5412 0.5611 0.4171 0.2469 0.5538 0.5865 0.5441 0.5812 0.58 0.56 0.59 0.59 0.53 rs690 COSM4419906 3(haematopoietic_and_lymphoid_tissue) Benign Hepatic_lipase_deficiency RCV000302701.1 MedGen:OMIM:Orphanet C3151466:614025:ORPHA140905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5339 0.5574 0.4232 0.5881 0.2466 0.5556 0.5864 0.5359 0.5802 0.5415 0.5530 0.4569 0.5364 0.2478 0.5552 0.5692 0.5255 hom 7322.49 229 15 58834741 . G T 7322.49 Mask AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6523;MQ=59.37;MQ0=0;QD=31.98;VQSLOD=7.2511;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:7321,590,0 15 58837957 58837957 A G exonic LIPC synonymous SNV LIPC:NM_000236:exon5:c.A591G:p.G197G 0.17 0.098 0.18 0.4 0.066 0.12 0.1229 0.0929 0.2154 0.4204 0.1147 0.0791 0.0782 0.1041 0.084 0.09 0.081 0.18 0.057 rs6082 . . Benign Hepatic_lipase_deficiency RCV000353905.1 MedGen:OMIM:Orphanet C3151466:614025:ORPHA140905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1267 0.0921 0.2066 0.0790 0.4210 0.1060 0.0780 0.1014 0.1034 0.1048 0.0919 0.1790 0.0894 0.3972 0.1126 0.0749 0.1104 het 936.31 86 15 58837957 . A G 936.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.187;DP=86;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.5194;MQ=60.00;MQ0=0;MQRankSum=1.158;QD=10.89;ReadPosRankSum=-0.022;VQSLOD=6.0678;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,40:86:99:966,0,1110 15 58838010 58838010 A G exonic LIPC nonsynonymous SNV LIPC:NM_000236:exon5:c.A644G:p.N215S 0.61 0.71 0.49 0.79 0.38 0.59 0.4703 0.6725 0.5592 0.8312 0.4868 0.3555 0.4172 0.5516 0.47 0.68 0.36 0.65 0.3 rs6083 COSM4128309 1(thyroid) Benign Hepatic_lipase_deficiency RCV000261063.1 MedGen:OMIM:Orphanet C3151466:614025:ORPHA140905 . . . . . . 0.055 0.384 T 0.028 0.184 B 0.014 0.158 B 0.109 0.195 N 1 0.090 P 1.44 0.361 L -2.61 0.900 D -1.43 0.352 N 0.013 0.002 -0.994 0.315 T 0.000 0.000 T . . . -0.208 0.075 1.054 0.951 0.255 0.193 0.204 N c -0.915 -0.925 1.000 0.747 0.428 0.059 0 -0.071 0.130 2.064 0.408 -0.150 0.108 0.003 0.159 0.363 0.248 2.841 0.051 Alpha/Beta hydrolase fold|Lipase\x2c N-terminal . . 0.4723 0.6783 0.5506 0.3275 0.8326 0.4842 0.3553 0.4156 0.5545 0.4912 0.6761 0.5167 0.2767 0.8284 0.4731 0.3583 0.4297 hom 4388.81 139 15 58838010 . A G 4388.81 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;QD=31.57;VQSLOD=9.3645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4388,340,0 15 58860963 58860963 C A exonic LIPC synonymous SNV LIPC:NM_000236:exon9:c.C1437A:p.T479T 0.2 0.082 0.2 0.25 0.16 0.36 0.1927 0.0991 0.2719 0.2695 0.2447 0.1402 0.1861 0.3440 0.13 0.099 0.14 0.16 0.14 rs6074 COSM3999574 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Hepatic_lipase_deficiency RCV000354550.1 MedGen:OMIM:Orphanet C3151466:614025:ORPHA140905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1945 0.0938 0.2571 0.1005 0.2638 0.2441 0.1370 0.1735 0.3445 0.1496 0.0918 0.2129 0.0728 0.2636 0.2374 0.1467 0.1783 het 506.93 38 15 58860963 . C A 506.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.509;DP=38;Dels=0.00;FS=2.913;HRun=0;HaplotypeScore=0.0000;MQ=58.23;MQ0=0;MQRankSum=0.163;QD=13.34;ReadPosRankSum=-1.463;VQSLOD=5.1291;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:537,0,378 15 59347929 59347929 C A exonic RNF111 synonymous SNV RNF111:NM_001270528:exon4:c.C1056A:p.S352S,RNF111:NM_001270529:exon4:c.C1056A:p.S352S,RNF111:NM_001270530:exon4:c.C1056A:p.S352S,RNF111:NM_001330331:exon4:c.C1056A:p.S352S,RNF111:NM_017610:exon4:c.C1056A:p.S352S 0.44 0.66 0.5 0.44 0.32 0.24 0.3893 0.6131 0.5411 0.4623 0.3540 0.3520 0.3638 0.2689 0.44 0.62 0.35 0.56 0.36 rs1446239 COSM1179762;COSM1179761 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3869 0.6145 0.5302 0.3613 0.4595 0.3548 0.3457 0.3712 0.2613 0.4303 0.6134 0.5239 0.3874 0.4738 0.3499 0.3393 0.3439 het 579.35 55 15 59347929 . C A 579.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.507;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7306;MQ=58.63;MQ0=0;MQRankSum=0.566;QD=10.53;ReadPosRankSum=-1.885;VQSLOD=5.7557;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,25:55:99:609,0,917 15 59368167 59368167 G A exonic RNF111 synonymous SNV RNF111:NM_001270528:exon7:c.G1701A:p.V567V,RNF111:NM_001270529:exon7:c.G1698A:p.V566V,RNF111:NM_001270530:exon7:c.G1701A:p.V567V,RNF111:NM_001330331:exon7:c.G1701A:p.V567V,RNF111:NM_017610:exon7:c.G1701A:p.V567V 0.43 0.66 0.45 0.46 0.26 0.23 0.3353 0.5996 0.5143 0.4757 0.2788 0.2720 0.3227 0.2490 0.39 0.6 0.28 0.52 0.3 rs7178935 COSM3754379;COSM3754380 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3362 0.6041 0.4993 0.3230 0.4714 0.2836 0.2667 0.3207 0.2442 0.3797 0.6011 0.4736 0.3510 0.4901 0.2816 0.2639 0.2812 het 1103.25 89 15 59368167 . G A 1103.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.424;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8606;MQ=59.07;MQ0=0;MQRankSum=-2.391;QD=12.26;ReadPosRankSum=0.654;VQSLOD=4.9302;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,41:89:99:1133,0,1325 15 59499179 59499179 G A exonic LDHAL6B nonsynonymous SNV LDHAL6B:NM_033195:exon1:c.G40A:p.V14M 0.4 0.28 0.39 0.55 0.27 0.56 0.3450 0.2951 0.4261 0.5664 0.2980 0.2694 0.3248 0.5288 0.28 0.29 0.28 0.34 0.23 rs3809530 . . . . . . . . . . . . . 0.18 0.219 T 0.034 0.191 B 0.01 0.139 B . . . 1.000 0.182 P 0.345 0.112 N -0.62 0.719 T -0.11 0.087 N 0.063 0.048 -0.917 0.460 T 0.000 0.000 T . . . -0.115 0.083 1.620 0.910 0.197 0.021 0.062 N c -1.046 -1.102 0.997 0.352 0.406 0.055 1 1.49 0.219 0.410 0.207 0.368 0.274 0.770 0.291 0.064 0.173 6.800 0.228 . ENSG00000171989.4 Testis 0.3480 0.2927 0.4288 0.2489 0.5706 0.2947 0.2695 0.3102 0.5242 0.3031 0.2919 0.3804 0.2433 0.5757 0.2822 0.2812 0.3177 het 474.14 65 15 59499179 . G A 474.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.656;DP=65;Dels=0.00;FS=2.284;HRun=1;HaplotypeScore=0.8321;MQ=58.12;MQ0=0;MQRankSum=-0.704;QD=7.29;ReadPosRankSum=1.087;VQSLOD=3.8321;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,20:65:99:504,0,1214 15 59499228 59499228 C T exonic LDHAL6B nonsynonymous SNV LDHAL6B:NM_033195:exon1:c.C89T:p.P30L 0.49 0.47 0.44 0.61 0.34 0.58 0.4019 0.4453 0.4721 0.6218 0.4056 0.3155 0.3880 0.5595 0.36 0.43 0.32 0.47 0.25 rs3809529 COSM3754381 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.298 0.146 T 0.014 0.156 B 0.002 0.063 B 0.658 0.104 U 0.003 0.434 P -0.55 0.024 N -0.35 0.686 T -1.33 0.332 N 0.168 0.203 -0.915 0.462 T 0.000 0.000 T . . . 0.611 0.152 8.233 0.799 0.125 0.094 0.150 N c -0.994 -1.071 0.999 0.388 0.406 0.055 1 1.49 0.219 -0.023 0.123 0.332 0.272 0.001 0.137 0.008 0.104 6.800 0.228 . ENSG00000171989.4 Testis 0.4045 0.4446 0.4732 0.3180 0.6237 0.4008 0.3125 0.3656 0.5581 0.3864 0.4402 0.4270 0.3344 0.6284 0.3918 0.3263 0.3885 het 965.18 93 15 59499228 . C T 965.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.115;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1179;MQ=59.25;MQ0=0;MQRankSum=-0.119;QD=10.38;ReadPosRankSum=-2.094;VQSLOD=4.4595;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,37:93:99:995,0,1582 15 59499274 59499274 C A exonic LDHAL6B synonymous SNV LDHAL6B:NM_033195:exon1:c.C135A:p.T45T 0.5 0.51 0.44 0.61 0.34 0.58 0.4051 0.4815 0.4748 0.6229 0.4013 0.3161 0.3885 0.5563 0.37 0.47 0.32 0.49 0.27 rs3809528 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4067 0.4839 0.4755 0.3182 0.6240 0.3958 0.3130 0.3655 0.5547 0.3971 0.4808 0.4245 0.3344 0.6284 0.3869 0.3259 0.3908 het 1992.48 150 15 59499274 . C A 1992.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.645;DP=150;Dels=0.00;FS=4.155;HRun=0;HaplotypeScore=1.8055;MQ=59.30;MQ0=0;MQRankSum=0.807;QD=13.28;ReadPosRankSum=-1.392;VQSLOD=6.0618;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,72:150:99:2022,0,2111 15 59500116 59500116 T C exonic LDHAL6B nonsynonymous SNV LDHAL6B:NM_033195:exon1:c.T977C:p.I326T 0.4 0.25 0.39 0.57 0.27 0.56 0.3471 0.2693 0.4304 0.5897 0.3007 0.2730 0.3333 0.5284 0.27 0.26 0.28 0.32 0.24 rs3825937 COSM5001570 1(pancreas) . . . . . . . . . . . 0.055 0.384 T 0.069 0.223 B 0.512 0.462 P 0.001 0.428 U 0.000 0.588 P 1.16 0.298 L -0.03 0.631 T -2.26 0.505 N 0.18 0.219 -0.902 0.478 T 0.000 0.000 T . . . 3.736 0.506 23.3 0.997 0.801 0.910 0.523 D c -0.099 -0.130 0.990 0.321 0.372 0.050 0 1.47 0.217 5.207 0.648 0.368 0.274 1.000 0.715 0.994 0.587 4.957 0.133 Lactate dehydrogenase/glycoside hydrolase\x2c family 4\x2c C-terminal|Lactate/malate dehydrogenase\x2c C-terminal ENSG00000171989.4 Testis 0.3510 0.2660 0.4311 0.2575 0.5948 0.3014 0.2729 0.3146 0.5251 0.2965 0.2623 0.3828 0.2550 0.5897 0.2862 0.2822 0.3139 het 2080.95 156 15 59500116 . T C 2080.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.703;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5997;MQ=58.19;MQ0=0;MQRankSum=1.206;QD=13.34;ReadPosRankSum=-0.014;VQSLOD=4.2759;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,81:156:99:2111,0,1922 15 59784493 59784493 C T exonic FAM81A synonymous SNV FAM81A:NM_152450:exon4:c.C318T:p.A106A 0.78 0.64 0.9 0.82 0.82 0.8 0.8097 0.6647 0.9126 0.8271 0.8799 0.8091 0.8160 0.7876 0.76 0.68 0.8 0.73 . rs4296198 COSM4128313 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8169 0.6548 0.9104 0.7723 0.8211 0.8825 0.8091 0.8220 0.7863 0.7880 0.6632 0.8854 0.7583 0.8278 0.8800 0.8274 0.8276 hom 717.25 25 15 59784493 . C T 717.25 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=28.69;VQSLOD=8.4382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:57.17:750,57,0 15 59963488 59963488 A G exonic BNIP2 synonymous SNV BNIP2:NM_001320674:exon7:c.T964C:p.L322L,BNIP2:NM_001320675:exon7:c.T787C:p.L263L,BNIP2:NM_004330:exon7:c.T964C:p.L322L 0.33 0.1 0.38 0.56 0.35 0.35 0.4173 0.1818 0.4713 0.5801 0.4615 0.4260 0.4296 0.4020 0.28 0.15 0.34 0.3 . rs1135148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3571 0.1434 0.3609 0.4238 0.5375 0.3992 0.3381 0.3754 0.3646 0.3064 0.1435 0.3508 0.44 0.5362 0.4009 0.3457 0.3653 het 143.85 11 15 59963488 . A G 143.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;MQRankSum=1.031;QD=13.08;ReadPosRankSum=-0.387;VQSLOD=6.7902;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:174,0,104 15 60734697 60734697 A G exonic ICE2 synonymous SNV ICE2:NM_001018089:exon12:c.T1932C:p.Y644Y,ICE2:NM_024611:exon12:c.T2343C:p.Y781Y 0.59 0.25 0.65 0.82 0.57 0.8 0.6153 0.2923 0.7293 0.8402 0.7107 0.5660 0.5951 0.7825 0.48 0.29 0.57 0.45 0.5 rs1063100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6122 0.2788 0.6927 0.5012 0.8266 0.7147 0.5609 0.5732 0.7721 0.5384 0.2919 0.6615 0.4437 0.8193 0.7219 0.5968 0.6415 het 1355.67 125 15 60734697 . A G 1355.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.290;DP=125;Dels=0.00;FS=5.547;HRun=0;HaplotypeScore=7.4299;MQ=59.03;MQ0=0;MQRankSum=-0.778;QD=10.85;ReadPosRankSum=0.122;VQSLOD=3.5837;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,55:125:99:1386,0,1757 15 60789798 60789798 G T exonic RORA synonymous SNV RORA:NM_134262:exon10:c.C1263A:p.T421T,RORA:NM_002943:exon11:c.C1503A:p.T501T,RORA:NM_134261:exon11:c.C1428A:p.T476T,RORA:NM_134260:exon12:c.C1527A:p.T509T 0.94 0.8 0.98 1. 1. 0.99 0.9824 0.8316 0.9923 1 1 0.9989 0.9901 0.9867 0.94 0.83 1. 0.89 1. rs11071539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9858 0.8260 0.9927 1 1 1.0000 0.9988 0.9931 0.9873 0.9511 0.8305 0.9928 1 1 1 0.9985 0.9919 hom 4939.30 164 15 60789798 . G T 4939.30 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.690;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5661;MQ=58.85;MQ0=0;MQRankSum=0.372;QD=30.12;ReadPosRankSum=-1.477;VQSLOD=8.4438;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,163:164:99:4939,382,0 15 62202482 62202482 C T exonic VPS13C nonsynonymous SNV VPS13C:NM_017684:exon62:c.G8609A:p.S2870N,VPS13C:NM_018080:exon62:c.G8609A:p.S2870N,VPS13C:NM_001018088:exon64:c.G8738A:p.S2913N,VPS13C:NM_020821:exon64:c.G8738A:p.S2913N 0.52 0.48 0.67 0.47 0.55 0.46 0.5472 0.4985 0.7095 0.4902 0.7158 0.5358 0.5420 0.4725 0.52 0.5 0.54 0.11 0.53 rs10851704 COSM4417025;COSM4417024 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.182 P -1.615 0.004 N 1.65 0.276 T 1.64 0.006 N 0.004 0.000 -0.914 0.464 T 0.000 0.000 T . . . 1.267 0.217 12.10 0.831 0.141 0.193 0.204 N c -0.870 -0.600 0.058 0.151 0.732 0.924 0 3.54 0.395 0.860 0.273 0.090 0.195 0.996 0.391 0.996 0.625 9.591 0.385 Vacuolar protein sorting-associated protein 13\x2c SHR-binding domain ENSG00000129003.11|ENSG00000129003.11|ENSG00000129003.11|ENSG00000129003.11|ENSG00000129003.11|ENSG00000129003.11 Adrenal_Gland|Colon_Transverse|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5614 0.4974 0.7182 0.4568 0.4916 0.7128 0.5362 0.5409 0.4732 0.5543 0.4825 0.6715 0.4371 0.4814 0.6961 0.5647 0.5911 hom 2082.63 75 15 62202482 . C T 2082.63 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.77;VQSLOD=13.6584;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2116,163,0 15 62274758 62274758 T G exonic VPS13C synonymous SNV VPS13C:NM_017684:exon19:c.A1800C:p.A600A,VPS13C:NM_018080:exon19:c.A1800C:p.A600A,VPS13C:NM_001018088:exon21:c.A1929C:p.A643A,VPS13C:NM_020821:exon21:c.A1929C:p.A643A 0.0024 . 0.0043 . 0.0089 . 0.0086 0.0014 0.0029 0 0.0183 0.0130 0.0077 0 0.0064 0.0009 0.0092 0.011 . rs115871350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0086 0.0016 0.0034 0.0082 0 0.0198 0.0125 0.0072 3.441e-05 0.0103 0.0015 0.0036 0.0099 0 0.0163 0.0160 0.0041 het 998.73 85 15 62274758 . T G 998.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.356;DP=85;Dels=0.00;FS=8.991;HRun=1;HaplotypeScore=1.9811;MQ=58.67;MQ0=0;MQRankSum=1.701;QD=11.75;ReadPosRankSum=1.648;VQSLOD=3.5933;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:1029,0,1178 15 62990971 62990971 C T exonic TLN2 synonymous SNV TLN2:NM_015059:exon13:c.C1492T:p.L498L 0.35 0.19 0.37 0.69 0.29 0.26 0.3386 0.2132 0.4474 0.6682 0.3267 0.3128 0.2911 0.2809 0.28 0.21 0.32 0.36 0.35 rs12905981 COSM287729 2(breast);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3426 0.2093 0.4367 0.2133 0.6738 0.3194 0.3148 0.3156 0.2832 0.3101 0.2036 0.3693 0.2285 0.6681 0.3183 0.3304 0.3041 het 1560.05 117 15 62990971 . C T 1560.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.864;DP=117;Dels=0.00;FS=2.390;HRun=1;HaplotypeScore=1.7621;MQ=58.91;MQ0=0;MQRankSum=-0.526;QD=13.33;ReadPosRankSum=-0.701;VQSLOD=6.0248;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,60:117:99:1590,0,1502 15 63009804 63009804 C T exonic TLN2 synonymous SNV TLN2:NM_015059:exon21:c.C2793T:p.A931A 0.74 0.31 0.91 0.95 0.88 0.84 0.8404 0.4026 0.9277 0.9459 0.8692 0.8805 0.8471 0.8235 0.72 0.42 0.88 0.67 0.75 rs1320191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8519 0.3740 0.9205 0.8964 0.9446 0.8785 0.8831 0.8670 0.8184 0.7516 0.3909 0.9043 0.8974 0.9444 0.8799 0.8926 0.8442 het 209.46 31 15 63009804 . C T 209.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.241;DP=31;Dels=0.00;FS=9.657;HRun=0;HaplotypeScore=0.0000;MQ=58.79;MQ0=0;MQRankSum=0.248;QD=6.76;ReadPosRankSum=-0.655;VQSLOD=3.5052;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,8:31:99:239,0,590 15 63047793 63047793 C T exonic TLN2 synonymous SNV TLN2:NM_015059:exon34:c.C4539T:p.I1513I 0.23 0.25 0.13 0.34 0.2 0.2 0.2215 0.2138 0.1324 0.2890 0.1672 0.2263 0.2483 0.2539 0.21 0.2 0.22 0.26 0.13 rs4775538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2146 0.2073 0.1334 0.2243 0.2871 0.1759 0.2246 0.2171 0.2545 0.2114 0.2023 0.1396 0.2185 0.2784 0.1838 0.2206 0.1965 het 1525.74 104 15 63047793 . C T 1525.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.537;DP=104;Dels=0.00;FS=2.810;HRun=1;HaplotypeScore=5.5788;MQ=59.42;MQ0=0;MQRankSum=0.209;QD=14.67;ReadPosRankSum=0.753;VQSLOD=5.1045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:46,58:104:99:1556,0,1147 15 63414083 63414083 A C exonic LACTB nonsynonymous SNV LACTB:NM_001288585:exon1:c.A13C:p.M5L,LACTB:NM_032857:exon1:c.A13C:p.M5L,LACTB:NM_171846:exon1:c.A13C:p.M5L 0.79 0.67 0.83 1. 0.73 0.8 0.8074 0.7270 0.8864 0.9965 0.7617 0.7728 0.7848 0.8075 0.77 0.74 0.79 . 0.27 rs34317102 COSM3749302 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.301 0.146 N 1 0.090 P -0.55 0.024 N 1.42 0.332 T 0.24 0.057 N 0.037 0.017 -0.969 0.375 T 0.000 0.000 T . . . -0.163 0.079 1.310 0.642 0.072 0.001 0.007 N c -1.123 -0.956 1.000 0.747 0.726 0.872 0 3.1 0.346 0.632 0.241 -0.164 0.107 0.993 0.376 0.874 0.366 7.626 0.272 . ENSG00000140416.15|ENSG00000259627.1|ENSG00000103642.7|ENSG00000259498.1|ENSG00000103642.7|ENSG00000140416.15|ENSG00000259627.1|ENSG00000103642.7|ENSG00000103642.7|ENSG00000103642.7|ENSG00000259627.1|ENSG00000103642.7|ENSG00000140416.15|ENSG00000140416.15|ENSG00000259627.1|ENSG00000138613.9|ENSG00000259498.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid|Thyroid|Thyroid 0.7695 0.6762 0.8703 0.6929 0.9962 0.7147 0.7409 0.7363 0.7667 0.7530 0.6889 0.8222 0.7086 0.9957 0.7418 0.7629 0.7613 hom 281.48 12 15 63414083 . A C 281.48 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.46;VQSLOD=13.1536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:24.07:314,24,0 15 63433766 63433766 G A exonic LACTB nonsynonymous SNV LACTB:NM_032857:exon6:c.G1406A:p.R469K 0.71 0.57 0.57 0.99 0.66 0.76 0.6840 0.5956 0.5693 0.9907 0.6730 0.6640 0.6722 0.7448 0.65 0.61 0.67 0.66 0.66 rs2729835 COSM3754397 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -1.315 0.007 N 1.14 0.384 T 0.89 0.016 N 0.054 0.036 -0.954 0.403 T 0.000 0.000 T . . . 0.236 0.117 5.056 0.733 0.100 0.284 0.233 N c -0.894 -0.611 1.000 0.747 0.706 0.609 0 4.49 0.540 3.586 0.534 0.244 0.267 1.000 0.715 0.998 0.697 8.228 0.306 Beta-lactamase-related|Beta-lactamase/transpeptidase-like ENSG00000140416.15|ENSG00000259627.1|ENSG00000103642.7|ENSG00000103642.7|ENSG00000140416.15|ENSG00000103642.7|ENSG00000259627.1|ENSG00000140416.15|ENSG00000103642.7|ENSG00000103642.7|ENSG00000103642.7|ENSG00000103642.7|ENSG00000259627.1|ENSG00000103642.7|ENSG00000140416.15|ENSG00000259627.1|ENSG00000140416.15|ENSG00000259627.1|ENSG00000138613.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid|Thyroid 0.6799 0.5958 0.5626 0.6268 0.9919 0.6754 0.6682 0.6708 0.7391 0.6650 0.5989 0.5692 0.6324 0.9926 0.6790 0.6700 0.6772 het 1410.43 106 15 63433766 . G A 1410.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.496;DP=106;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.39;MQ0=0;MQRankSum=-0.414;QD=13.31;ReadPosRankSum=-1.330;VQSLOD=6.4167;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,54:106:99:1440,0,1445 15 63889941 63889941 A G exonic FBXL22 nonsynonymous SNV FBXL22:NM_203373:exon1:c.A350G:p.D117G 0.0014 . . . 0.007 . 0.0023 0.0003 0.0010 0 0.0083 0.0030 0.0040 0 0.0018 0.0005 0.0024 . . rs139954123 . . . . . . . . . . . . . . . . 0.664 0.391 P 0.201 0.352 B 0.227 0.160 N 0.561 0.322 D 0.55 0.145 N 1.48 0.317 T . . . 0.27 0.328 -0.974 0.364 T 0.044 0.188 T 0.016 0.368 T 5.248 0.709 25.6 0.996 0.715 0.848 0.436 D c 0.156 0.256 1.000 0.747 0.498 0.195 0 4.58 0.559 2.581 0.455 1.199 0.960 0.989 0.365 0.998 0.697 11.278 0.482 . . . 0.0021 0.0001 0.0013 0.0001 0 0.0059 0.0030 0.0016 0.0003 0.0029 0.0003 0.0024 0 0 0.0057 0.0043 0.0020 het 638.27 62 15 63889941 . A G 638.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.664;DP=62;Dels=0.00;FS=1.057;HRun=1;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=1.406;QD=10.29;ReadPosRankSum=0.316;VQSLOD=4.4888;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,25:62:99:668,0,963 15 63922752 63922752 T A exonic HERC1 synonymous SNV HERC1:NM_003922:exon69:c.A12879T:p.I4293I 0.64 0.87 0.65 0.097 0.9 0.6 0.7480 0.8506 0.5193 0.0863 0.8265 0.8763 0.7789 0.6407 0.87 0.86 0.88 0.66 . rs10851731 COSM147936;COSM3754400 1(breast);1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7414 0.8530 0.5527 0.8682 0.0808 0.8283 0.8803 0.7963 0.6451 0.8121 0.8542 0.6360 0.8874 0.0748 0.8349 0.8707 0.8041 het 2417.67 206 15 63922752 . T A 2417.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.399;DP=206;DS;Dels=0.00;FS=1.190;HRun=1;HaplotypeScore=9.0805;MQ=59.50;MQ0=0;MQRankSum=-0.320;QD=11.74;ReadPosRankSum=0.360;VQSLOD=4.4276;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,94:206:99:2448,0,3014 15 63937209 63937209 C G exonic HERC1 nonsynonymous SNV HERC1:NM_003922:exon57:c.G11166C:p.E3722D 0.64 0.87 0.65 0.1 0.9 0.59 0.7471 0.8502 0.5187 0.0870 0.8267 0.8750 0.7778 0.6405 0.87 0.86 0.88 0.66 . rs2229749 COSM3754401;COSM147938 1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.717 0.040 T 0.0 0.026 B 0.0 0.013 B 0.001 0.399 N 1.000 0.090 P -0.55 0.024 N 1.96 0.223 T -0.05 0.078 N 0.013 0.002 -0.941 0.426 T 0.000 0.000 T . . . 0.739 0.164 9.079 0.139 0.003 0.246 0.222 N c -1.323 -1.191 0.879 0.255 0.706 0.609 0 -3.28 0.047 -0.198 0.094 -0.735 0.035 0.655 0.280 0.973 0.468 2.83 0.051 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000103657.9 Whole_Blood 0.7405 0.8525 0.5520 0.8626 0.0826 0.8285 0.8791 0.7950 0.6444 0.8117 0.8539 0.6391 0.8841 0.0801 0.8347 0.8693 0.8016 het 1640.58 149 15 63937209 . C G 1640.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.399;DP=149;Dels=0.00;FS=0.644;HRun=1;HaplotypeScore=4.6499;MQ=58.82;MQ0=0;MQRankSum=1.653;QD=11.01;ReadPosRankSum=0.931;VQSLOD=5.2484;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,66:149:99:1671,0,2264 15 63954029 63954029 C T exonic HERC1 synonymous SNV HERC1:NM_003922:exon45:c.G9093A:p.P3031P 0.64 0.88 0.65 0.096 0.9 0.59 0.7466 0.8506 0.5181 0.0828 0.8272 0.8750 0.7778 0.6382 0.87 0.86 0.88 0.66 . rs2228511 COSM3754403;COSM3754402 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7401 0.8527 0.5513 0.8626 0.0777 0.8297 0.8791 0.7954 0.6430 0.8119 0.8545 0.6360 0.8841 0.0745 0.8355 0.8697 0.8014 het 4006.72 250 15 63954029 . C T 4006.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.630;DP=250;DS;Dels=0.00;FS=2.637;HRun=0;HaplotypeScore=5.4018;MQ=59.67;MQ0=0;MQRankSum=0.153;QD=16.03;ReadPosRankSum=-0.055;VQSLOD=4.9808;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3304,0,3813 15 63988357 63988357 C G exonic HERC1 nonsynonymous SNV HERC1:NM_003922:exon27:c.G5087C:p.G1696A 0.64 0.87 0.65 0.098 0.9 0.59 0.7497 0.8513 0.5221 0.0877 0.8259 0.8746 0.7791 0.6439 0.87 0.86 0.88 0.66 . rs2255243 COSM147942;COSM3754407 1(stomach);2(prostate);1(large_intestine) . . . . . . . . . . . 0.919 0.023 T 0.0 0.026 B 0.0 0.013 B 0.129 0.187 N 1.000 0.182 P -0.345 0.033 N 1.98 0.219 T 1.0 0.070 N 0.033 0.047 -0.957 0.397 T 0.000 0.000 T . . . 0.292 0.122 5.619 0.666 0.079 0.165 0.192 N c -0.726 -0.516 0.997 0.350 0.672 0.522 0 4.29 0.502 3.914 0.559 0.136 0.221 1.000 0.715 0.476 0.267 15.683 0.770 . ENSG00000103657.9 Whole_Blood 0.7401 0.8522 0.5503 0.8625 0.0804 0.8296 0.8791 0.7954 0.6426 0.8113 0.8540 0.6364 0.8841 0.0748 0.8351 0.8692 0.8031 het 792.38 46 15 63988357 . C G 792.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.060;DP=46;Dels=0.00;FS=1.280;HRun=1;HaplotypeScore=0.0000;MQ=58.12;MQ0=0;MQRankSum=2.280;QD=17.23;ReadPosRankSum=0.227;VQSLOD=3.6581;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,32:46:99:822,0,286 15 64385851 64385851 T C exonic FAM96A synonymous SNV FAM96A:NM_001014812:exon1:c.A117G:p.E39E,FAM96A:NM_001289108:exon1:c.A117G:p.E39E,FAM96A:NM_032231:exon1:c.A117G:p.E39E 0.92 0.7 0.98 1. 1. 1. 0.9734 0.7413 0.9833 1 1 0.9954 0.9780 0.9988 0.91 0.75 1. 0.86 0.9 rs332259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9777 0.7392 0.9796 0.9787 1 1.0000 0.9962 0.9774 0.9990 0.9281 0.7518 0.9880 0.9833 1 0.9997 0.9976 0.9887 hom 2614.92 85 15 64385851 . T C 2614.92 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=30.76;VQSLOD=8.9878;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2648,202,0 15 64418397 64418397 G A exonic SNX1 synonymous SNV SNX1:NM_148955:exon4:c.G435A:p.P145P,SNX1:NM_001242933:exon6:c.G630A:p.P210P,SNX1:NM_003099:exon6:c.G630A:p.P210P 0.62 0.46 0.64 0.83 0.81 0.41 0.6991 0.5026 0.5819 0.8334 0.8158 0.7894 0.7048 0.4221 0.69 0.5 0.79 0.64 0.78 rs1130603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7011 0.4929 0.5957 0.7059 0.8323 0.8239 0.7920 0.7370 0.4194 0.7120 0.4864 0.6507 0.6490 0.8088 0.8125 0.8114 0.7464 hom 2150.05 79 15 64418397 . G A 2150.05 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8139;MQ=58.82;MQ0=0;QD=27.22;VQSLOD=7.5540;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:79:99:2183,183,0 15 64710827 64710827 T C exonic TRIP4 synonymous SNV TRIP4:NM_001321924:exon9:c.T568C:p.L190L,TRIP4:NM_016213:exon9:c.T1258C:p.L420L 0.11 0.012 0.42 0.033 0.14 0.084 0.1533 0.0311 0.4777 0.0275 0.1362 0.1483 0.1377 0.0967 0.12 0.034 0.16 0.11 0.18 rs4776494 COSM5983439 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1698 0.0281 0.4586 0.1707 0.0269 0.1462 0.1492 0.1843 0.0949 0.1095 0.0324 0.4005 0.1788 0.0290 0.1342 0.1380 0.1357 het 1294.63 99 15 64710827 . T C 1294.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.851;DP=99;Dels=0.00;FS=1.705;HRun=0;HaplotypeScore=0.8321;MQ=58.45;MQ0=0;MQRankSum=1.400;QD=13.08;ReadPosRankSum=-1.035;VQSLOD=5.7352;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,46:99:99:1325,0,1433 15 64737225 64737225 G A exonic TRIP4 synonymous SNV TRIP4:NM_001321924:exon12:c.G906A:p.E302E,TRIP4:NM_016213:exon12:c.G1596A:p.E532E 0.82 0.66 0.95 0.95 0.96 0.65 0.8884 0.6904 0.9336 0.9559 0.9617 0.9491 0.9060 0.6679 0.86 0.7 0.95 0.8 0.85 rs7167612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8975 0.6791 0.9328 0.9530 0.9573 0.9645 0.9500 0.9265 0.6642 0.8829 0.6906 0.9248 0.96 0.9586 0.9644 0.9605 0.9264 hom 1723.85 61 15 64737225 . G A 1723.85 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=28.26;VQSLOD=7.8225;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1757,132,0 15 64915106 64915106 C T exonic ZNF609 synonymous SNV ZNF609:NM_015042:exon2:c.C828T:p.P276P 0.98 0.93 1. 1. 1. 1. 0.9943 0.9402 0.9975 1 1 0.9995 0.9978 0.9997 0.98 0.94 1. 0.97 0.98 rs525878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9953 0.9389 0.9960 0.9997 1 1 0.9995 0.9969 0.9998 0.9837 0.9439 0.9940 1 1 1 0.9996 0.9969 hom 5897.75 167 15 64915106 . C T 5897.75 Mask AC=2;AF=1.00;AN=2;DP=167;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8192;MQ=59.59;MQ0=0;QD=35.32;VQSLOD=8.8564;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5897,469,0 15 64962630 64962630 A C exonic ZNF609 synonymous SNV ZNF609:NM_015042:exon3:c.A1059C:p.P353P 0.29 0.32 0.31 0.057 0.54 0.23 0.3956 0.3337 0.2165 0.0584 0.5088 0.5054 0.4548 0.2445 0.44 0.35 0.49 0.33 0.46 rs11633399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3912 0.3239 0.2357 0.5017 0.0640 0.5022 0.5035 0.4429 0.2453 0.4265 0.3185 0.3120 0.4669 0.0753 0.5014 0.5130 0.4652 het 2309.01 171 15 64962630 . A C 2309.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.811;DP=171;DS;Dels=0.00;FS=6.511;HRun=5;HaplotypeScore=0.7340;MQ=59.16;MQ0=0;MQRankSum=0.393;QD=13.50;ReadPosRankSum=1.777;VQSLOD=5.0616;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,87:171:99:2339,0,2391 15 65108504 65108504 A T exonic PIF1 nonsynonymous SNV PIF1:NM_001286496:exon13:c.T1919A:p.I640N,PIF1:NM_001286499:exon13:c.T1760A:p.I587N,PIF1:NM_025049:exon13:c.T1919A:p.I640N 0.28 0.26 0.26 0.11 0.49 0.27 0.3766 0.2941 0.1961 0.1042 0.5266 0.4618 0.4292 0.2907 0.41 0.31 0.46 0.32 0.43 rs17802279 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.213 P -2.08 0.002 N -0.05 0.634 T 1.42 0.008 N 0.105 0.111 -0.930 0.441 T 0.000 0.000 T . . . 1.281 0.219 12.17 0.238 0.010 0.037 0.089 N c -0.970 -0.791 0.978 0.299 0.672 0.522 0 3.27 0.364 0.544 0.228 0.088 0.194 0.950 0.328 0.989 0.536 2.698 0.048 . ENSG00000166839.12|ENSG00000140451.8|ENSG00000241839.5 Cells_EBV-transformed_lymphocytes|Thyroid|Whole_Blood 0.3749 0.2880 0.2209 0.4676 0.1160 0.5124 0.4589 0.4080 0.2921 0.3955 0.2834 0.2883 0.44 0.1279 0.5054 0.4666 0.4371 het 811.92 78 15 65108504 . A T 811.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.107;DP=78;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5777;MQ=59.22;MQ0=0;MQRankSum=0.721;QD=10.41;ReadPosRankSum=0.813;VQSLOD=6.2863;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,35:78:99:842,0,1033 15 65153690 65153690 G A exonic PLEKHO2 synonymous SNV PLEKHO2:NM_001195059:exon4:c.G249A:p.K83K,PLEKHO2:NM_025201:exon5:c.G399A:p.K133K 0.28 0.11 0.29 0.75 0.15 0.16 0.2950 0.1529 0.4645 0.7824 0.3255 0.2233 0.3090 0.2076 0.14 0.12 0.15 0.22 0.11 rs12595292 COSM3754410 1(breast);1(large_intestine) . . . . . Coronary heart disease . .11 21347282 rs12595292 9E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2221 0.1162 0.3338 0.1803 0.7519 0.1976 0.1469 0.1941 0.1665 0.1858 0.1158 0.3138 0.1854 0.7199 0.2160 0.1548 0.1875 het 335.68 13 15 65153690 . G A 335.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.086;DP=13;Dels=0.00;FS=3.123;HRun=2;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.099;QD=25.82;ReadPosRankSum=0.099;VQSLOD=3.8465;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:2,11:13:33.03:366,0,33 15 65157482 65157482 C T exonic PLEKHO2 nonsynonymous SNV PLEKHO2:NM_001195059:exon5:c.C718T:p.P240S,PLEKHO2:NM_025201:exon6:c.C868T:p.P290S 0.3 0.16 0.3 0.76 0.15 0.19 0.2283 0.1561 0.3590 0.7841 0.1984 0.1554 0.2143 0.1955 0.15 0.15 0.15 0.23 0.17 rs2010875 . . . . . . . . . . . . . 0.707 0.041 T 0.002 0.090 B 0.006 0.112 B 0.143 0.029 N 1 0.090 P 1.265 0.321 L 1.58 0.291 T 0.18 0.050 N 0.019 0.008 -0.958 0.395 T 0.000 0.000 T . . . -0.468 0.057 0.264 0.439 0.033 0.031 0.080 N c -1.099 -1.060 1.000 0.467 0.707 0.730 0 1.78 0.238 0.259 0.180 0.789 0.320 0.001 0.137 0.002 0.062 2.328 0.039 . ENSG00000166839.12|ENSG00000241839.5 Artery_Tibial|Artery_Tibial 0.2332 0.1581 0.3429 0.1852 0.7674 0.2004 0.1508 0.1984 0.1938 0.1973 0.1547 0.3186 0.1854 0.7267 0.2158 0.1548 0.1888 het 974.29 92 15 65157482 . C T 974.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.627;DP=92;Dels=0.00;FS=0.797;HRun=0;HaplotypeScore=6.4731;MQ=59.25;MQ0=0;MQRankSum=0.024;QD=10.59;ReadPosRankSum=0.715;VQSLOD=4.5728;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,41:92:99:1004,0,1417 15 65235776 65235776 A G exonic ANKDD1A nonsynonymous SNV ANKDD1A:NM_182703:exon11:c.A1063G:p.K355E 0.25 0.13 0.23 0.13 0.34 0.45 0.3165 0.1596 0.2389 0.1201 0.2972 0.3503 0.3326 0.4426 0.29 0.17 0.35 0.17 0.31 rs34988193 COSM1129152 1(oesophagus);5(prostate);1(large_intestine) . . . . . . . . . . . 0.009 0.574 D 0.999 0.764 D 0.958 0.683 D 0.000 0.629 D 0.000 0.530 P 0.805 0.203 L 2.36 0.161 T -2.47 0.539 N 0.277 0.532 -0.921 0.454 T 0.000 0.000 T . . . 5.871 0.805 27.4 0.999 0.964 0.983 0.814 D c 0.485 0.474 0.184 0.179 0.657 0.484 0 4.27 0.498 8.456 0.901 1.199 0.960 1.000 0.715 1.000 0.888 11.473 0.493 Ankyrin repeat-containing domain ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000166839.12|ENSG00000241839.5|ENSG00000090487.6|ENSG00000090487.6|ENSG00000166839.12|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000241839.5|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000166839.12|ENSG00000241839.5|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6|ENSG00000090487.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Vagina 0.3135 0.1527 0.2480 0.3510 0.1287 0.2955 0.3478 0.3203 0.4440 0.2716 0.1534 0.2691 0.3907 0.1444 0.3070 0.3399 0.3327 het 1547.95 153 15 65235776 . A G 1547.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.563;DP=153;DS;Dels=0.00;FS=10.594;HRun=0;HaplotypeScore=3.4321;MQ=59.65;MQ0=0;MQRankSum=-0.780;QD=10.12;ReadPosRankSum=1.416;VQSLOD=3.8957;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,58:153:99:1578,0,2711 15 65236875 65236875 T C exonic ANKDD1A synonymous SNV ANKDD1A:NM_182703:exon12:c.T1092C:p.A364A 0.55 0.75 0.36 0.39 0.45 0.7 0.5024 0.7189 0.3520 0.4099 0.3970 0.4728 0.4922 0.6802 0.55 0.72 0.46 0.46 0.48 rs2414865 COSM5428609;COSM5428608 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4867 0.7224 0.3665 0.5413 0.4128 0.3916 0.4629 0.4728 0.6815 0.5174 0.7244 0.3890 0.5530 0.4391 0.3990 0.4434 0.4611 het 665.28 60 15 65236875 . T C 665.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.874;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7122;MQ=59.30;MQ0=0;MQRankSum=-0.793;QD=11.09;ReadPosRankSum=-0.274;VQSLOD=6.3707;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,28:60:99:695,0,853 15 65347405 65347405 G A exonic RASL12 synonymous SNV RASL12:NM_001307930:exon4:c.C576T:p.T192T,RASL12:NM_016563:exon5:c.C633T:p.T211T 0.42 0.19 0.52 0.78 0.41 0.32 0.4319 0.2550 0.5525 0.8076 0.4370 0.4088 0.4308 0.3435 0.35 0.24 0.4 0.39 0.29 rs2232762 COSM3754412;COSM3754411 1(liver);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4300 0.2378 0.5297 0.3465 0.8007 0.4220 0.4048 0.4200 0.3308 0.3793 0.2424 0.5072 0.3543 0.7911 0.4072 0.4009 0.3857 het 384.35 29 15 65347405 . G A 384.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.091;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;MQRankSum=0.023;QD=13.25;ReadPosRankSum=0.207;VQSLOD=6.5630;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,14:29:99:414,0,413 15 65369951 65369951 A G exonic KBTBD13 synonymous SNV KBTBD13:NM_001101362:exon1:c.A798G:p.E266E 0.9 0.91 0.87 0.98 0.84 0.9 0.8853 0.9076 0.8698 0.9808 0.8591 0.8671 0.9138 0.9084 0.88 0.92 0.86 0.3 . rs2919359 COSM3749304 9(large_intestine) Benign|Benign not_specified|Nemaline_Myopathy\x2c_Dominant RCV000117312.3|RCV000287772.1 MedGen|MedGen CN169374|CN239448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8737 0.9031 0.8572 0.8641 0.9843 0.8303 0.8542 0.8533 0.9033 0.8666 0.9022 0.8732 0.8543 0.9969 0.8358 0.8414 0.8262 hom 265.31 10 15 65369951 . A G 265.31 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.53;VQSLOD=12.8726;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.06:298,24,0 15 65370353 65370353 T C exonic KBTBD13 synonymous SNV KBTBD13:NM_001101362:exon1:c.T1200C:p.G400G 0.99 0.96 0.99 1. 1. 1. 0.9961 0.9712 0.9965 1 0.9998 0.9973 0.9976 1 0.99 0.97 1. 0.94 . rs2919360 COSM3754414 1(thyroid);3(large_intestine) Benign|Benign not_specified|Nemaline_Myopathy\x2c_Dominant RCV000117308.3|RCV000359041.1 MedGen|MedGen CN169374|CN239448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9959 0.9710 0.9957 0.9783 1 0.9999 0.9984 0.9955 0.9999 0.9923 0.9747 0.9964 0.9834 1 1 0.9995 0.9980 hom 673.16 25 15 65370353 . T C 673.16 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.93;VQSLOD=12.9830;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:63.17:706,63,0 15 65489128 65489128 C T exonic CILP nonsynonymous SNV CILP:NM_003613:exon9:c.G3496A:p.G1166S 0.81 0.57 0.87 0.99 0.8 0.88 0.8218 0.5997 0.9014 0.9968 0.7875 0.8091 0.8256 0.8869 0.73 0.6 0.8 0.67 0.62 rs938952 . . . . . . . . . . . . . 0.435 0.094 T 0.0 0.026 B 0.001 0.040 B 0.454 0.125 N 1 0.090 P -0.345 0.033 N 1.3 0.356 T 0.7 0.022 N 0.021 0.005 -1.026 0.219 T 0.000 0.000 T . . . -0.222 0.074 0.985 0.438 0.033 0.049 0.105 N c -1.193 -1.136 0.998 0.366 0.534 0.214 0 3.46 0.386 0.416 0.208 -1.786 0.007 0.000 0.063 0.000 0.016 4.895 0.130 . ENSG00000166855.5|ENSG00000246922.4|ENSG00000246922.4|ENSG00000246922.4 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Thyroid 0.8266 0.5908 0.8969 0.8234 0.9976 0.7836 0.8065 0.8098 0.8833 0.7484 0.5843 0.8876 0.8079 0.9994 0.7813 0.7978 0.7816 hom 2326.92 74 15 65489128 . C T 2326.92 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.1557;MQ=58.86;MQ0=0;QD=31.44;VQSLOD=9.1026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:74:99:2360,190,0 15 65489688 65489688 T C exonic CILP nonsynonymous SNV CILP:NM_003613:exon9:c.A2936G:p.Q979R 0.99 0.97 1. 1. 1. 1. 0.9965 0.9628 0.9984 0.9994 1 0.9999 0.9989 1 0.99 0.96 1. 0.99 1. rs2679117 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.254 0.154 N 1 0.090 P -0.895 0.014 N 3.01 0.091 T 1.05 0.013 N 0.007 0.000 -0.921 0.454 T 0.000 0.000 T . . . -2.679 0.002 0.001 0.261 0.012 0.039 0.092 N c -1.890 -1.861 0.995 0.336 0.497 0.185 0 -8.8 0.007 -0.880 0.043 -1.554 0.009 0.000 0.063 0.822 0.344 12.368 0.544 . . . 0.9973 0.9612 0.9983 1 0.9997 1 0.9999 0.9982 1 0.9887 0.9602 0.9976 1 1 1 1 0.9990 hom 4389.80 142 15 65489688 . T C 4389.80 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3588;MQ=59.28;MQ0=0;QD=30.91;VQSLOD=8.2235;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4389,358,0 15 65490901 65490901 T C exonic CILP nonsynonymous SNV CILP:NM_003613:exon9:c.A1723G:p.K575E 0.99 0.97 1. 1. 1. 1. 0.9967 0.9636 0.9984 1 1 0.9999 0.9989 1 0.99 0.96 1. 0.99 1. rs2679118 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.232 0.159 N 1 0.090 P 0.065 0.083 N 1.01 0.411 T 0.75 0.020 N 0.056 0.039 -0.962 0.388 T 0.000 0.000 T . . . -1.790 0.011 0.002 0.153 0.004 0.147 0.183 N c -1.061 -0.841 0.038 0.143 0.516 0.203 0 3.6 0.402 0.339 0.195 0.066 0.173 0.701 0.284 0.676 0.304 10.013 0.410 . . . 0.9973 0.9617 0.9984 1 1 1 0.9999 0.9980 1 0.9887 0.9602 0.9976 1 1 1 1 0.9990 hom 4521.45 138 15 65490901 . T C 4521.45 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3123;MQ=59.11;MQ0=0;QD=32.76;VQSLOD=9.8051;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4521,358,0 15 65494212 65494212 A G exonic CILP nonsynonymous SNV CILP:NM_003613:exon8:c.T1184C:p.I395T 0.5 0.67 0.63 0.14 0.65 0.38 0.5682 0.6450 0.6006 0.1521 0.5857 0.6257 0.5857 0.4475 0.64 0.64 0.64 0.6 0.61 rs2073711 COSM3754415 1(breast);1(large_intestine) other Lumbar_disc_disease\x2c_susceptibility_to RCV000006692.2 . . . . . . . . 0.259 0.166 T 0.0 0.026 B 0.001 0.040 B 0.000 0.523 N 0.006 0.420 P 2.165 0.608 M 1.19 0.376 T -2.0 0.461 N 0.222 0.272 -0.983 0.342 T 0.000 0.000 T . . . 1.790 0.276 14.93 0.834 0.142 0.979 0.781 D c -0.286 -0.160 0.035 0.142 0.516 0.203 0 3.4 0.379 4.120 0.574 0.196 0.251 1.000 0.715 0.996 0.625 9.494 0.380 . ENSG00000138615.4 Cells_Transformed_fibroblasts 0.5642 0.6441 0.5963 0.6029 0.1472 0.5775 0.6279 0.5907 0.4174 0.5924 0.6458 0.5875 0.5960 0.1459 0.5635 0.6177 0.5755 het 701.27 50 15 65494212 . A G 701.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.490;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.97;MQ0=0;MQRankSum=0.210;QD=14.03;ReadPosRankSum=0.510;VQSLOD=7.1436;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:731,0,606 15 65553246 65553246 C T exonic PARP16 synonymous SNV PARP16:NM_001316944:exon3:c.G465A:p.V155V,PARP16:NM_001316943:exon5:c.G810A:p.V270V,PARP16:NM_017851:exon5:c.G810A:p.V270V 0.23 0.26 0.4 0.12 0.27 0.14 0.2816 0.2507 0.4388 0.1227 0.3250 0.3039 0.2572 0.1682 0.29 0.26 0.3 0.34 0.3 rs2304896 COSM3754416 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2861 0.2586 0.4206 0.2608 0.1162 0.3282 0.3030 0.2738 0.1672 0.2836 0.2649 0.3783 0.2550 0.1145 0.3144 0.3006 0.2878 het 2968.08 228 15 65553246 . C T 2968.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.623;DP=228;DS;Dels=0.00;FS=5.518;HRun=0;HaplotypeScore=3.0721;MQ=59.03;MQ0=0;MQRankSum=1.156;QD=13.02;ReadPosRankSum=0.913;VQSLOD=5.3464;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:114,114:228:99:2998,0,3257 15 65621441 65621441 C A exonic IGDCC3 nonsynonymous SNV IGDCC3:NM_004884:exon14:c.G2251T:p.V751L 0.61 0.37 0.48 0.85 0.6 0.81 0.6094 0.4406 0.4887 0.8448 0.5818 0.5801 0.6277 0.7778 0.53 0.43 0.58 0.5 0.4 rs12907128 COSM434160 1(thyroid) . . . . . . . . . . . 0.235 0.180 T 0.005 0.119 B 0.001 0.040 B 0.912 0.085 N 1 0.090 P 0.345 0.112 N -0.11 0.645 T -0.19 0.100 N 0.113 0.123 -0.963 0.387 T 0.000 0.000 T . . . 0.086 0.102 3.462 0.585 0.059 0.090 0.147 N c -1.518 -1.505 0.650 0.221 0.707 0.730 0 -5.23 0.026 -0.419 0.071 -0.849 0.029 0.576 0.273 0.004 0.083 0.439 0.004 . ENSG00000174498.9|ENSG00000138617.10 Brain_Cerebellum|Whole_Blood 0.5982 0.4169 0.4873 0.5257 0.8511 0.5694 0.5779 0.5956 0.7762 0.5548 0.4156 0.5156 0.5166 0.8618 0.5840 0.5961 0.5971 het 191.84 25 15 65621441 . C A 191.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.757;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.76;MQ0=0;MQRankSum=0.612;QD=7.67;ReadPosRankSum=1.019;VQSLOD=5.7772;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,8:25:99:222,0,375 15 65621857 65621857 T C exonic IGDCC3 synonymous SNV IGDCC3:NM_004884:exon13:c.A2076G:p.L692L 0.97 0.91 0.98 1. 0.99 1. 0.9818 0.9151 0.9898 1 0.9914 0.9828 0.9856 0.9988 0.96 0.92 0.98 0.96 0.86 rs509652 COSM4128352 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9829 0.9109 0.9883 0.9731 1 0.9904 0.9837 0.9837 0.9988 0.9670 0.9137 0.9857 0.9570 1 0.9928 0.9868 0.9785 hom 2692.98 83 15 65621857 . T C 2692.98 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=32.45;VQSLOD=9.1327;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2726,214,0 15 65667724 65667724 A G exonic IGDCC3 synonymous SNV IGDCC3:NM_004884:exon2:c.T120C:p.A40A 0.91 0.96 0.94 0.83 0.89 0.91 0.9049 0.9560 0.9498 0.8387 0.9033 0.8962 0.9034 0.9121 0.91 0.95 0.89 0.94 0.84 rs666623 COSM4128353 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9051 0.9591 0.9454 0.8635 0.8465 0.8930 0.8999 0.9013 0.9084 0.9143 0.9600 0.9222 0.8444 0.8571 0.8989 0.8997 0.8965 hom 1458.55 46 15 65667724 . A G 1458.55 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=31.71;VQSLOD=9.1519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:46:99:1492,117,0 15 65676617 65676617 T C exonic IGDCC4 synonymous SNV IGDCC4:NM_020962:exon20:c.A3483G:p.P1161P 0.52 0.6 0.6 0.67 0.39 0.34 0.4649 0.5743 0.6605 0.6833 0.4580 0.4015 0.4735 0.3933 0.46 0.57 0.4 0.47 0.5 rs2292933 COSM4128354 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4614 0.5764 0.6321 0.3692 0.6802 0.4613 0.3937 0.4451 0.3724 0.4810 0.5768 0.5644 0.4007 0.6648 0.4613 0.4089 0.4509 het 1183.35 90 15 65676617 . T C 1183.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.898;DP=90;Dels=0.00;FS=11.115;HRun=1;HaplotypeScore=0.9996;MQ=59.33;MQ0=0;MQRankSum=0.683;QD=13.15;ReadPosRankSum=-0.574;VQSLOD=4.4521;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,41:90:99:1213,0,1455 15 65676726 65676726 C T exonic IGDCC4 nonsynonymous SNV IGDCC4:NM_020962:exon20:c.G3374A:p.C1125Y 0.23 0.15 0.26 0.44 0.19 0.17 0.2264 0.1483 0.3090 0.4599 0.2666 0.1941 0.2372 0.1885 0.18 0.14 0.2 0.2 0.25 rs33918653 . . . . . . . . . . . . . 0.004 0.654 D 0.981 0.577 D 0.592 0.487 P 0.002 0.366 N 0.113 0.359 P 1.04 0.263 L 0.22 0.599 T -2.3 0.511 N 0.274 0.332 -0.916 0.461 T 0.000 0.000 T . . . 4.308 0.577 24.0 0.996 0.768 0.873 0.466 D c 0.329 0.339 1.000 0.747 0.644 0.439 0 4.27 0.498 2.419 0.441 0.852 0.362 1.000 0.715 1.000 0.888 10.550 0.441 . . . 0.2270 0.1478 0.2871 0.1225 0.4580 0.2672 0.1907 0.2283 0.1807 0.2059 0.1433 0.2554 0.1325 0.4332 0.2665 0.2007 0.2296 het 3130.69 250 15 65676726 . C T 3130.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-11.649;DP=250;DS;Dels=0.00;FS=2.935;HRun=0;HaplotypeScore=4.3595;MQ=59.57;MQ0=0;MQRankSum=-2.189;QD=12.52;ReadPosRankSum=1.073;VQSLOD=3.8612;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,124:250:99:3161,0,3594 15 65677446 65677446 C A exonic IGDCC4 nonsynonymous SNV IGDCC4:NM_020962:exon19:c.G3188T:p.W1063L 0.013 0.0008 0.019 0.005 0.021 0.027 0.0212 0.0035 0.0268 0.0007 0.0473 0.0223 0.0134 0.0209 0.0088 0.0016 0.012 . . rs116928937 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.996 0.832 D 0.000 0.497 D 0.997 0.438 D 1.04 0.263 L -0.57 0.713 T -4.54 0.784 D 0.353 0.414 -0.296 0.751 T 0.246 0.615 T . . . 6.711 0.917 32 0.987 0.447 0.828 0.417 D c 0.547 0.493 1.0 0.983 0.789 0.998 0 5.23 0.725 4.444 0.595 0.852 0.362 1.000 0.715 0.750 0.322 15.937 0.794 . . . 0.0179 0.0032 0.0214 0.0066 0.0003 0.0388 0.0186 0.0178 0.0194 0.0162 0.0038 0.0274 0.0066 0.0006 0.0367 0.0193 0.0244 het 335.04 27 15 65677446 . C A 335.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.806;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=1.244;QD=12.41;ReadPosRankSum=-1.586;VQSLOD=5.7571;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:365,0,467 15 65916527 65916527 A T exonic SLC24A1 nonsynonymous SNV SLC24A1:NM_001301031:exon1:c.A109T:p.T37S,SLC24A1:NM_001301032:exon1:c.A109T:p.T37S,SLC24A1:NM_004727:exon2:c.A109T:p.T37S,SLC24A1:NM_001301033:exon4:c.A109T:p.T37S 0.31 0.13 0.2 0.72 0.17 0.37 0.2522 0.1398 0.2748 0.7287 0.2686 0.1837 0.2606 0.3240 0.16 0.14 0.17 0.23 . rs3743171 . . Benign|Benign not_specified|Congenital_Stationary_Night_Blindness\x2c_Recessive RCV000243514.1|RCV000397613.1 MedGen|MedGen CN169374|CN239273 . . . . . . 0.003 0.682 D 0.873 0.764 P 0.461 0.664 P 0.343 0.139 N 1 0.090 P 1.7 0.440 L -0.01 0.672 T -1.7 0.404 N 0.13 0.214 -0.918 0.458 T 0.000 0.000 T . . . 1.311 0.222 12.32 0.939 0.233 0.038 0.091 N c -0.354 -0.494 0.007 0.113 0.615 0.372 0 2.74 0.312 0.040 0.137 1.088 0.866 0.000 0.063 0.678 0.304 3.897 0.086 . ENSG00000103742.7|ENSG00000103742.7|ENSG00000174485.10|ENSG00000074696.8|ENSG00000174485.10 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Testis|Testis 0.2544 0.1394 0.2678 0.1414 0.7372 0.2637 0.1816 0.2169 0.3269 0.2216 0.1397 0.2201 0.1258 0.7665 0.2807 0.1981 0.2327 het 1109.39 73 15 65916527 . A T 1109.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.826;DP=73;Dels=0.00;FS=2.363;HRun=1;HaplotypeScore=5.8578;MQ=58.79;MQ0=0;MQRankSum=1.540;QD=15.20;ReadPosRankSum=0.085;VQSLOD=4.8739;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:35,38:73:99:1139,0,854 15 66257408 66257408 T C exonic MEGF11 nonsynonymous SNV MEGF11:NM_032445:exon9:c.A950G:p.H317R 0.99 0.96 1. 1. 1. 1. 0.9962 0.9622 0.9962 0.9999 1 0.9994 0.9985 0.9996 0.99 0.97 1. 1. . rs333550 . . . . . . . . . . . . . 0.746 0.047 T 0.0 0.026 B 0.001 0.040 B 0.002 0.381 N 1.000 0.588 P -1.055 0.011 N 1.1 0.390 T 0.72 0.021 N 0.013 0.353 -0.996 0.311 T 0.000 0.000 T . . . -0.061 0.088 2.038 0.623 0.067 0.076 0.135 N c -1.222 -1.070 0.601 0.217 0.615 0.352 0 0.559 0.164 -0.387 0.074 -0.337 0.073 0.053 0.213 0.769 0.327 2.067 0.034 EGF-like domain;EGF-like domain|Laminin EGF domain . . 0.9968 0.9597 0.9961 0.9991 0.9998 1 0.9996 0.9982 0.9998 0.9894 0.9639 0.9964 1 1 1 0.9995 0.9969 hom 539.46 18 15 66257408 . T C 539.46 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=29.97;VQSLOD=9.0498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:48.13:572,48,0 15 66618342 66618342 A G exonic DIS3L nonsynonymous SNV DIS3L:NM_001323937:exon11:c.A1463G:p.D488G,DIS3L:NM_001323940:exon11:c.A731G:p.D244G,DIS3L:NM_001323943:exon11:c.A731G:p.D244G,DIS3L:NM_001323948:exon11:c.A1661G:p.D554G,DIS3L:NM_001143688:exon12:c.A1841G:p.D614G,DIS3L:NM_001323936:exon12:c.A1592G:p.D531G,DIS3L:NM_001323938:exon12:c.A1439G:p.D480G,DIS3L:NM_001323941:exon12:c.A1439G:p.D480G,DIS3L:NM_001323944:exon12:c.A1790G:p.D597G,DIS3L:NM_001323945:exon12:c.A1592G:p.D531G,DIS3L:NM_001323946:exon12:c.A1439G:p.D480G,DIS3L:NM_133375:exon12:c.A1592G:p.D531G,DIS3L:NM_001323939:exon13:c.A1439G:p.D480G 0.25 0.095 0.32 0.32 0.3 0.3 0.2925 0.1314 0.3435 0.3198 0.2714 0.2979 0.2511 0.3334 0.25 0.14 0.3 0.22 0.35 rs3803412 COSM4417590;COSM4417589 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.184 0.224 T 0.002 0.090 B 0.006 0.112 B 0.008 0.308 N 0.008 0.414 P 0.45 0.128 N 1.81 0.252 T -1.8 0.513 N 0.048 0.029 -0.953 0.405 T 0.000 0.000 T . . . 1.598 0.254 13.84 0.955 0.264 0.964 0.686 D c -0.379 -0.184 0.992 0.326 0.707 0.730 0 5.31 0.750 4.978 0.633 1.178 0.904 1.000 0.715 0.059 0.170 14.429 0.667 Nucleic acid-binding\x2c OB-fold ENSG00000240821.1|ENSG00000240821.1|ENSG00000166938.8|ENSG00000240821.1|ENSG00000240821.1|ENSG00000240821.1|ENSG00000240821.1|ENSG00000240821.1|ENSG00000240821.1|ENSG00000240821.1|ENSG00000166938.8|ENSG00000240821.1|ENSG00000240821.1|ENSG00000240821.1|ENSG00000240821.1|ENSG00000166938.8|ENSG00000240821.1|ENSG00000240821.1|ENSG00000240821.1|ENSG00000240821.1|ENSG00000166938.8|ENSG00000240821.1 Adrenal_Gland|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Testis|Thyroid 0.2966 0.1257 0.3414 0.2135 0.3179 0.2846 0.3047 0.2777 0.3299 0.2477 0.1260 0.3297 0.1722 0.3137 0.2822 0.2995 0.2602 hom 4923.63 145 15 66618342 . A G 4923.63 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7253;MQ=59.24;MQ0=0;QD=33.96;VQSLOD=9.0623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4923,388,0 15 66644521 66644521 C G exonic TIPIN nonsynonymous SNV TIPIN:NM_017858:exon3:c.G158C:p.R53P 0.98 0.94 1. 1. 1. 1. 0.9954 0.95 0.9978 1 1 0.9998 0.9978 1 0.98 0.95 1. 0.96 0.98 rs9806123 . . . . . . . . . . . . . 1.0 0.026 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.971 0.810 P -2.455 0.001 N 2.81 0.301 T 2.57 0.002 N 0.218 0.459 -0.955 0.400 T 0.000 0.000 T . . . 1.555 0.249 13.61 0.638 0.071 0.082 0.140 N c -0.973 -0.688 0.994 0.336 0.732 0.924 0 4.8 0.610 2.818 0.475 -0.041 0.124 1.000 0.715 0.986 0.517 14.232 0.653 Chromosome segregation in meiosis protein 3 . . 0.9964 0.9506 0.9973 1 1 1 0.9998 0.9983 1.0000 0.9868 0.9540 0.9988 1 1 1 0.9998 0.9969 hom 2341.74 83 15 66644521 . C G 2341.74 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6965;MQ=59.55;MQ0=0;QD=28.21;VQSLOD=7.9423;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2375,175,0 15 66735693 66735693 G T exonic MAP2K1 nonsynonymous SNV MAP2K1:NM_002755:exon4:c.G514T:p.A172S . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.167 0.231 T 0.688 0.396 P 0.491 0.455 P 0.000 0.843 D 1 0.810 D -0.165 0.043 N -3.14 0.929 D -2.35 0.519 N 0.722 0.724 0.290 0.874 D 0.699 0.896 D 0.118 0.799 D 5.308 0.718 25.8 0.997 0.774 0.996 0.974 D c 0.444 0.600 1.000 0.747 0.707 0.730 0 6.03 0.978 9.883 0.985 1.048 0.713 1.000 0.715 1.000 0.888 20.557 0.993 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain . . . . . . . . . . . . . . . . . . . het 608.16 52 15 66735693 . G T 608.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.035;DP=52;Dels=0.00;FS=7.260;HRun=2;HaplotypeScore=0.9578;MQ=59.64;MQ0=0;MQRankSum=0.571;QD=11.70;ReadPosRankSum=0.368;VQSLOD=3.4847;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,23:52:99:638,0,766 15 67457335 67457335 A G exonic SMAD3 synonymous SNV SMAD3:NM_001145103:exon2:c.A177G:p.L59L,SMAD3:NM_005902:exon2:c.A309G:p.L103L 0.83 0.87 0.91 0.76 0.86 0.78 0.8635 0.8626 0.9455 0.7586 0.8660 0.8790 0.8590 0.7982 0.88 0.87 0.88 0.88 0.87 rs1065080 . . Benign|Benign|Benign\x2cLikely benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Loeys-Dietz_syndrome\x2cThoracic_aortic_aneurysm_and_aortic_dissection RCV000128169.5|RCV000247318.2|RCV000295973.1\x2cRCV000465232.1 MedGen|MedGen:Orphanet|MedGen:Orphanet:SNOMED_CT\x2cMedGen:Orphanet CN169374|CN118826:ORPHA91387|C2697932:ORPHA60030:446263001\x2cCN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . 0.902 0.810 P . . . . . . -9.0 0.981 D . . . . . . . . . . . 0.949 0.185 10.37 0.964 0.292 0.315 0.241 N n 1.610 1.752 1.000 0.747 0.742 0.980 0 2.36 0.281 1.301 0.328 -0.205 0.101 1.000 0.715 0.993 0.574 3.617 0.076 . ENSG00000166949.11 Esophagus_Mucosa 0.8671 0.8661 0.9440 0.8435 0.7557 0.8661 0.8822 0.8704 0.7992 0.8640 0.8614 0.9177 0.8477 0.7472 0.8660 0.8754 0.8582 hom 7848.95 231 15 67457335 . A G 7848.95 Mask AC=2;AF=1.00;AN=2;DP=231;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5123;MQ=59.62;MQ0=0;QD=33.98;VQSLOD=7.8652;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,230:231:99:7848,611,0 15 67528374 67528374 T G exonic AAGAB nonsynonymous SNV AAGAB:NM_001271885:exon4:c.A67C:p.I23L,AAGAB:NM_001271886:exon4:c.A67C:p.I23L,AAGAB:NM_024666:exon4:c.A394C:p.I132L 0.36 0.061 0.42 0.65 0.33 0.47 0.3641 0.0998 0.4100 0.6598 0.3572 0.3355 0.3789 0.4520 0.25 0.11 0.32 0.34 0.35 rs7173826 COSM5426043 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.359 0.125 T 0.019 0.167 B 0.019 0.176 B 0.000 0.629 D 0.001 0.451 P 1.21 0.306 L -1.26 0.792 T -0.58 0.258 N 0.085 0.182 -0.999 0.302 T 0.000 0.000 T . . . 4.206 0.564 23.9 0.970 0.315 0.905 0.514 D c -0.291 -0.054 1.000 0.747 0.706 0.609 0 5.48 0.806 3.023 0.491 1.011 0.635 1.000 0.715 0.999 0.750 15.853 0.786 P-loop containing nucleoside triphosphate hydrolase ENSG00000188779.6|ENSG00000137764.15|ENSG00000137764.15|ENSG00000137764.15|ENSG00000137764.15|ENSG00000103599.15|ENSG00000103599.15|ENSG00000188779.6|ENSG00000137764.15|ENSG00000103599.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Heart_Atrial_Appendage|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.3700 0.0943 0.4093 0.4224 0.6651 0.3643 0.3272 0.3521 0.4452 0.2856 0.0952 0.4141 0.4205 0.6879 0.3609 0.3221 0.3391 het 1854.37 158 15 67528374 . T G 1854.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.225;DP=158;Dels=0.00;FS=1.281;HRun=1;HaplotypeScore=5.8276;MQ=59.06;MQ0=0;MQRankSum=-0.473;QD=11.74;ReadPosRankSum=-0.310;VQSLOD=5.1540;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,77:158:99:1884,0,1957 15 67692502 67692502 T C exonic IQCH synonymous SNV IQCH:NM_001284347:exon9:c.T927C:p.R309R,IQCH:NM_001322471:exon9:c.T927C:p.R309R,IQCH:NM_001322470:exon10:c.T1164C:p.R388R,IQCH:NM_001322473:exon10:c.T1164C:p.R388R,IQCH:NM_001284348:exon11:c.T939C:p.R313R,IQCH:NM_001322475:exon11:c.T1164C:p.R388R,IQCH:NM_001031715:exon14:c.T1956C:p.R652R 1. 0.99 1. 1. 1. 1. 0.9993 0.9927 0.9998 1 1 1.0000 0.9989 1 1. 0.99 1. 1. 1. rs7495023 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9926 0.9998 1 1 1 1.0000 1 1 0.9978 0.9924 1 1 1 1 1 0.9990 hom 3216.25 103 15 67692502 . T C 3216.25 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=59.33;MQ0=0;QD=31.23;VQSLOD=8.8544;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3249,250,0 15 67768151 67768151 G C exonic IQCH nonsynonymous SNV IQCH:NM_001284347:exon13:c.G1765C:p.V589L,IQCH:NM_001284348:exon15:c.G1777C:p.V593L,IQCH:NM_001322475:exon15:c.G2002C:p.V668L,IQCH:NM_001031715:exon18:c.G2794C:p.V932L 1. 0.99 1. 1. 1. 1. 0.9994 0.9930 0.9997 1 1 1.0000 0.9989 1 1. 0.99 1. 1. 1. rs3985641 . . . . . . . . . . . . . 0.767 0.034 T 0.0 0.026 B 0.001 0.063 B 0.153 0.179 N 1 0.090 P -0.88 0.014 N 2.45 0.150 T -0.02 0.073 N 0.084 0.078 -0.971 0.369 T 0.000 0.000 T . . . 0.433 0.136 6.896 0.549 0.051 0.223 0.215 N c -1.025 -0.887 0.005 0.107 0.554 0.283 0 -0.479 0.114 0.204 0.170 -1.098 0.019 0.938 0.323 0.562 0.282 10.060 0.412 . . . 0.9995 0.9926 0.9997 1 1 1 1.0000 1 1 0.9979 0.9926 1 1 1 1 1 0.9990 hom 3049.14 96 15 67768151 . G C 3049.14 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.55;MQ0=0;QD=31.76;VQSLOD=8.7721;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3082,235,0 15 68583175 68583175 T C exonic FEM1B synonymous SNV FEM1B:NM_015322:exon2:c.T1479C:p.N493N 1. 1. 1. 1. 1. 1. 1.0000 0.9996 1 1 1 1 1 1 . . . 1. 1. rs6494729 COSM4595170 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9996 1.0000 1 1 1 1 1 1 0.9999 0.9995 1 1 1 1 1 1 hom 6906.04 218 15 68583175 . T C 6906.04 Mask AC=2;AF=1.00;AN=2;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5363;MQ=59.15;MQ0=0;QD=31.68;VQSLOD=7.2895;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:6905,536,0 15 68624396 68624396 A C exonic ITGA11 nonsynonymous SNV ITGA11:NM_001004439:exon14:c.T1571G:p.L524R 0.9 0.9 0.91 0.91 0.84 0.93 0.8664 0.8800 0.9397 0.9191 0.8638 0.8344 0.8864 0.9188 0.85 0.89 0.82 0.84 . rs7168069 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.481 N 1 0.090 P -1.225 0.008 N 3.87 0.036 T 1.25 0.010 N 0.036 0.016 -1.000 0.298 T 0.000 0.000 T . . . -0.738 0.043 0.059 0.134 0.003 0.003 0.015 N c -1.195 -1.036 1.000 0.467 0.549 0.223 0 4.09 0.469 -0.355 0.077 0.067 0.174 0.000 0.063 0.854 0.356 3.755 0.080 . . . 0.8656 0.8762 0.9318 0.8300 0.9176 0.8664 0.8244 0.8536 0.9189 0.8606 0.8775 0.9129 0.8344 0.9066 0.8663 0.8424 0.8551 hom 536.53 20 15 68624396 . A C 536.53 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=26.83;VQSLOD=8.0391;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.13:570,48,0 15 68628143 68628143 C T exonic ITGA11 synonymous SNV ITGA11:NM_001004439:exon12:c.G1317A:p.R439R 0.65 0.23 0.82 0.8 0.79 0.78 0.7642 0.3172 0.8337 0.8188 0.8008 0.7978 0.7963 0.7869 0.64 0.34 0.79 0.54 . rs2306023 COSM5766502 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7691 0.2927 0.8272 0.8503 0.8139 0.8028 0.7894 0.7949 0.7854 0.6613 0.3063 0.8162 0.8609 0.8115 0.8042 0.7999 0.7464 hom 1332.79 42 15 68628143 . C T 1332.79 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;QD=31.73;VQSLOD=8.5085;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1366,114,0 15 68649587 68649587 G A exonic ITGA11 synonymous SNV ITGA11:NM_001004439:exon7:c.C651T:p.N217N 0.88 0.91 0.84 1. 0.75 0.87 0.8172 0.8666 0.8909 0.9988 0.8423 0.7590 0.8196 0.8665 0.79 0.87 0.75 0.94 . rs12907890 COSM3754444 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8167 0.8718 0.8788 0.7391 0.9989 0.8351 0.7524 0.8018 0.8670 0.8164 0.8676 0.8421 0.7433 0.9981 0.8393 0.7624 0.8045 hom 3695.19 119 15 68649587 . G A 3695.19 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8773;MQ=59.22;MQ0=0;QD=31.05;VQSLOD=9.3659;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3695,292,0 15 68695349 68695349 G A exonic ITGA11 synonymous SNV ITGA11:NM_001004439:exon2:c.C72T:p.N24N 0.044 0.003 0.075 . 0.15 0.018 0.1034 0.0277 0.0660 0.0003 0.0825 0.1520 0.0969 0.0326 0.1 0.027 0.14 0.043 . rs11629460 COSM3754445 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0923 0.0224 0.0654 0.1470 0.0003 0.0663 0.1416 0.1026 0.0287 0.0861 0.0248 0.0776 0.1026 0.0006 0.0704 0.1345 0.0932 het 499.18 42 15 68695349 . G A 499.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.043;DP=42;Dels=0.00;FS=1.264;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.834;QD=11.89;ReadPosRankSum=-0.910;VQSLOD=6.1747;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,23:42:99:529,0,553 15 69238445 69238445 G A exonic SPESP1 nonsynonymous SNV SPESP1:NM_145658:exon2:c.G572A:p.G191E 0.53 0.64 0.46 0.46 0.59 0.46 0.5491 0.5972 0.3950 0.4566 0.5770 0.6050 0.5364 0.4391 0.6 0.59 0.61 0.6 0.63 rs3743093 COSM4128373 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.647 0.059 N 1 0.090 P -0.145 0.044 N 2.09 0.201 T 1.72 0.006 N 0.012 0.001 -0.925 0.449 T 0.000 0.000 T . . . -1.567 0.015 0.002 0.385 0.026 0.002 0.010 N c -1.494 -1.471 0.014 0.126 0.624 0.395 0 -0.354 0.119 0.151 0.160 0.188 0.248 0.000 0.063 0.002 0.062 1.066 0.015 . . . 0.5413 0.5935 0.4072 0.5551 0.4631 0.5774 0.6048 0.5627 0.4412 0.5802 0.5991 0.4544 0.5828 0.4714 0.5782 0.5890 0.5704 hom 3866.11 127 15 69238445 . G A 3866.11 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.34;MQ0=0;QD=30.44;VQSLOD=8.7513;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:127:99:3866,295,0 15 69325581 69325581 C T exonic NOX5 synonymous SNV NOX5:NM_001184779:exon5:c.C735T:p.C245C,NOX5:NM_001184780:exon5:c.C714T:p.C238C,NOX5:NM_024505:exon5:c.C819T:p.C273C 0.81 0.62 0.94 0.74 0.96 0.89 0.9117 0.6829 0.9358 0.7545 0.9498 0.9601 0.9257 0.8973 0.86 0.67 0.96 0.78 0.95 rs311893 COSM3749311;COSM5009854 1(haematopoietic_and_lymphoid_tissue);8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9143 0.6635 0.9409 0.9635 0.7504 0.9494 0.9602 0.9330 0.8959 0.8638 0.6689 0.9402 0.9536 0.7577 0.9443 0.9586 0.9407 hom 629.92 21 15 69325581 . C T 629.92 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;QD=30.00;VQSLOD=8.5642;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:54.16:663,54,0 15 69327825 69327825 C T exonic NOX5 synonymous SNV NOX5:NM_001184779:exon6:c.C903T:p.T301T,NOX5:NM_001184780:exon6:c.C882T:p.T294T,NOX5:NM_024505:exon6:c.C987T:p.T329T 0.81 0.61 0.94 0.74 0.96 0.89 0.9072 0.6645 0.9353 0.7530 0.9445 0.9591 0.9279 0.8951 0.86 0.67 0.96 0.8 0.97 rs311889 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9136 0.6585 0.9402 0.9628 0.7493 0.9448 0.9596 0.9310 0.8954 0.8640 0.6692 0.9402 0.9536 0.7611 0.9442 0.9584 0.9407 hom 2422.22 73 15 69327825 . C T 2422.22 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.18;VQSLOD=14.2474;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2455,193,0 15 69328226 69328226 C T exonic NOX5 nonsynonymous SNV NOX5:NM_001184779:exon7:c.C1054T:p.L352F,NOX5:NM_001184780:exon7:c.C1033T:p.L345F,NOX5:NM_024505:exon7:c.C1138T:p.L380F 0.27 0.11 0.33 0.12 0.54 0.32 0.4233 0.1745 0.2370 0.1238 0.4888 0.5522 0.4339 0.3197 0.43 0.17 0.56 0.33 0.52 rs12907196 . . . . . . . . . . . . . 0.007 0.599 D 0.303 0.561 B 0.158 0.559 B 0.039 0.242 N 0.003 0.436 P 2.315 0.665 M -3.14 0.929 D -2.25 0.503 N 0.128 0.175 -1.022 0.230 T 0.000 0.000 T . . . 4.829 0.648 24.8 0.998 0.906 0.244 0.222 N c -0.156 -0.278 1.000 0.747 0.556 0.300 0 1.18 0.200 0.496 0.220 0.552 0.283 0.148 0.234 0.096 0.187 6.601 0.217 Ferric reductase transmembrane component-like domain . . 0.4205 0.1653 0.2541 0.5021 0.1219 0.4880 0.5553 0.4706 0.3233 0.4007 0.1798 0.3126 0.5367 0.1128 0.4891 0.5383 0.4568 hom 7608.10 238 15 69328226 . C T 7608.10 Mask AC=2;AF=1.00;AN=2;DP=238;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.9735;MQ=58.87;MQ0=0;QD=31.97;VQSLOD=7.3751;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,237:238:99:7576,593,0 15 69561518 69561518 G A exonic GLCE nonsynonymous SNV GLCE:NM_001324092:exon4:c.G1018A:p.V340I,GLCE:NM_015554:exon5:c.G1789A:p.V597I,GLCE:NM_001324093:exon6:c.G1789A:p.V597I,GLCE:NM_001324094:exon6:c.G1789A:p.V597I 0.67 0.47 0.79 0.74 0.77 0.67 0.7379 0.4886 0.8227 0.7445 0.7644 0.7754 0.7081 0.6714 0.67 0.49 0.77 0.55 0.82 rs3865014 COSM3754446 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.432 N 1 0.090 P -0.125 0.045 N 1.0 0.414 T 0.32 0.040 N 0.032 0.012 -1.000 0.299 T 0.000 0.000 T . . . -2.985 0.001 0.001 0.227 0.009 0.019 0.058 N c -2.170 -2.102 0.974 0.295 0.706 0.609 0 -3.23 0.048 0.181 0.166 -1.408 0.012 0.002 0.151 0.660 0.300 8.599 0.327 . ENSG00000259504.1 Esophagus_Mucosa 0.7467 0.4822 0.8225 0.7380 0.7446 0.7725 0.7748 0.7517 0.6783 0.6925 0.4945 0.8198 0.7715 0.7602 0.7738 0.7690 0.75 hom 7866.28 244 15 69561518 . G A 7866.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.689;DP=244;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6120;MQ=57.97;MQ0=0;MQRankSum=1.661;QD=32.24;ReadPosRankSum=1.704;VQSLOD=7.1826;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,243:244:99:7865,641,0 15 69728949 69728949 A G exonic KIF23 synonymous SNV KIF23:NM_001281301:exon13:c.A1113G:p.P371P,KIF23:NM_004856:exon14:c.A1443G:p.P481P,KIF23:NM_138555:exon14:c.A1443G:p.P481P 0.77 0.54 0.81 0.68 0.96 0.94 0.8903 0.6074 0.7117 0.6979 0.9280 0.9701 0.9064 0.9560 0.85 0.61 0.97 0.74 0.93 rs3825858 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8896 0.5955 0.7314 0.9708 0.6957 0.9280 0.9722 0.9208 0.9576 0.8415 0.6065 0.7727 0.9868 0.6887 0.9309 0.9686 0.9308 hom 5203.21 177 15 69728949 . A G 5203.21 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7602;MQ=59.55;MQ0=0;QD=29.40;VQSLOD=8.3839;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5202,412,0 15 69732736 69732736 C T exonic KIF23 synonymous SNV KIF23:NM_001281301:exon16:c.C1647T:p.T549T,KIF23:NM_004856:exon17:c.C1977T:p.T659T,KIF23:NM_138555:exon17:c.C1977T:p.T659T 0.77 0.54 0.81 0.68 0.96 0.94 0.8905 0.6100 0.7125 0.6997 0.9280 0.9691 0.9073 0.9558 0.85 0.61 0.97 0.74 0.92 rs937724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8893 0.5960 0.7319 0.9581 0.6976 0.9280 0.9720 0.9199 0.9575 0.8417 0.6075 0.7739 0.9735 0.6906 0.9307 0.9684 0.9306 hom 2720.35 83 15 69732736 . C T 2720.35 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=32.78;VQSLOD=9.6403;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2753,214,0 15 70345626 70345626 C T exonic TLE3 synonymous SNV TLE3:NM_001282982:exon15:c.G1704A:p.T568T,TLE3:NM_001105192:exon17:c.G1914A:p.T638T,TLE3:NM_001282979:exon17:c.G1899A:p.T633T,TLE3:NM_001282980:exon17:c.G1908A:p.T636T,TLE3:NM_001282981:exon17:c.G1893A:p.T631T,TLE3:NM_005078:exon17:c.G1923A:p.T641T,TLE3:NM_020908:exon17:c.G1887A:p.T629T 0.36 0.23 0.47 0.26 0.48 0.46 0.4400 0.2977 0.4161 0.2822 0.4308 0.4708 0.4973 0.4891 0.4 0.27 0.47 0.46 . rs1057865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4224 0.2575 0.4062 0.5697 0.2609 0.4024 0.4501 0.4617 0.4717 0.3852 0.2588 0.4450 0.5927 0.2621 0.4057 0.4576 0.4173 het 106.60 17 15 70345626 . C T 106.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.739;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=-0.791;QD=6.27;ReadPosRankSum=1.001;VQSLOD=4.5880;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,5:17:99:137,0,338 15 70346923 70346923 C T exonic TLE3 synonymous SNV TLE3:NM_001282982:exon14:c.G1470A:p.S490S,TLE3:NM_001105192:exon16:c.G1680A:p.S560S,TLE3:NM_001282979:exon16:c.G1665A:p.S555S,TLE3:NM_001282980:exon16:c.G1674A:p.S558S,TLE3:NM_001282981:exon16:c.G1659A:p.S553S,TLE3:NM_005078:exon16:c.G1689A:p.S563S,TLE3:NM_020908:exon16:c.G1653A:p.S551S 0.36 0.23 0.47 0.26 0.48 0.46 0.4285 0.2840 0.4060 0.2671 0.4085 0.4639 0.4829 0.4733 0.4 0.27 0.47 0.46 . rs2228178 COSM3956875;COSM3956876 1(lung);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4273 0.2647 0.4106 0.5698 0.2620 0.4062 0.4565 0.4671 0.4757 0.3850 0.2578 0.4438 0.5927 0.2599 0.4062 0.4579 0.4180 het 996.08 55 15 70346923 . C T 996.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.677;DP=55;Dels=0.00;FS=1.275;HRun=0;HaplotypeScore=2.6549;MQ=60.00;MQ0=0;MQRankSum=0.743;QD=18.11;ReadPosRankSum=0.145;VQSLOD=5.0333;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,35:55:99:1026,0,414 15 70351788 70351788 T C exonic TLE3 synonymous SNV TLE3:NM_001282982:exon8:c.A558G:p.G186G,TLE3:NM_001105192:exon10:c.A726G:p.G242G,TLE3:NM_001282979:exon10:c.A726G:p.G242G,TLE3:NM_001282980:exon10:c.A726G:p.G242G,TLE3:NM_001282981:exon10:c.A705G:p.G235G,TLE3:NM_005078:exon10:c.A726G:p.G242G,TLE3:NM_020908:exon10:c.A726G:p.G242G 0.67 0.49 0.83 0.7 0.79 0.67 0.7541 0.5621 0.8687 0.7032 0.7266 0.7816 0.7744 0.7056 0.7 0.56 0.78 0.71 . rs2133977 COSM5438077;COSM5438076 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7488 0.5242 0.8610 0.8455 0.6869 0.7176 0.7655 0.7812 0.6938 0.6842 0.5191 0.8397 0.8576 0.6986 0.7086 0.7578 0.7294 hom 943.08 33 15 70351788 . T C 943.08 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.58;VQSLOD=13.4134;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:72.24:976,72,0 15 70352968 70352968 C G exonic TLE3 synonymous SNV TLE3:NM_001282982:exon7:c.G447C:p.S149S,TLE3:NM_001105192:exon9:c.G615C:p.S205S,TLE3:NM_001282979:exon9:c.G615C:p.S205S,TLE3:NM_001282980:exon9:c.G615C:p.S205S,TLE3:NM_001282981:exon9:c.G594C:p.S198S,TLE3:NM_005078:exon9:c.G615C:p.S205S,TLE3:NM_020908:exon9:c.G615C:p.S205S 0.21 0.14 0.33 0.23 0.3 0.12 0.2720 0.1557 0.4389 0.2135 0.3101 0.3006 0.2456 0.1248 0.24 0.15 0.29 0.17 . rs2228176 COSM3754450;COSM3754449 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2773 0.1539 0.4260 0.2731 0.2059 0.3129 0.2951 0.2929 0.1247 0.2498 0.1573 0.3771 0.26 0.1840 0.3066 0.2878 0.2888 het 1391.94 108 15 70352968 . C G 1391.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.938;DP=108;Dels=0.00;FS=1.629;HRun=1;HaplotypeScore=0.8941;MQ=58.96;MQ0=0;MQRankSum=0.729;QD=12.89;ReadPosRankSum=0.722;VQSLOD=5.8754;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,56:108:99:1422,0,1323 15 70960068 70960068 G A exonic UACA synonymous SNV UACA:NM_001008224:exon16:c.C2916T:p.Y972Y,UACA:NM_018003:exon16:c.C2955T:p.Y985Y 0.57 0.32 0.74 0.53 0.76 0.64 0.7048 0.3526 0.7694 0.4887 0.7145 0.7868 0.7269 0.6582 0.65 0.36 0.79 0.58 0.75 rs934005 COSM4416846;COSM4416847 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7117 0.3458 0.7699 0.7488 0.4896 0.7062 0.7892 0.7413 0.6603 0.6332 0.3511 0.7554 0.7781 0.4863 0.7069 0.7792 0.7347 het 1241.63 149 15 70960068 . G A 1241.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.173;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.06;MQ0=0;MQRankSum=1.623;QD=8.33;ReadPosRankSum=-0.246;VQSLOD=6.2270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,55:149:99:1272,0,2501 15 70991925 70991925 G C exonic UACA synonymous SNV UACA:NM_001008224:exon2:c.C114G:p.T38T,UACA:NM_018003:exon2:c.C153G:p.T51T 0.73 0.6 0.89 0.58 0.87 0.8 0.8288 0.6501 0.9011 0.5367 0.8244 0.8878 0.8271 0.8073 0.81 0.67 0.88 0.78 0.89 rs4776525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8318 0.6437 0.8978 0.8816 0.5364 0.8176 0.8874 0.8628 0.8056 0.7909 0.6552 0.9 0.9106 0.5390 0.8172 0.8770 0.8470 het 1377.22 144 15 70991925 . G C 1377.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.729;DP=144;Dels=0.00;FS=4.040;HRun=0;HaplotypeScore=4.4381;MQ=59.68;MQ0=0;MQRankSum=-1.859;QD=9.56;ReadPosRankSum=0.214;VQSLOD=3.6539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,58:144:99:1407,0,2266 15 71125093 71125093 G A exonic LARP6 synonymous SNV LARP6:NM_001286679:exon3:c.C222T:p.C74C,LARP6:NM_018357:exon3:c.C774T:p.C258C 0.5 0.3 0.76 0.5 0.59 0.49 0.5672 0.3465 0.8238 0.4568 0.4954 0.5896 0.5950 0.5147 0.52 0.36 0.6 0.42 0.57 rs3825970 COSM1374353 1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5722 0.3353 0.8075 0.5909 0.4541 0.4869 0.5889 0.6051 0.5038 0.4943 0.3290 0.7655 0.5967 0.4634 0.4997 0.5715 0.5481 hom 2846.02 94 15 71125093 . G A 2846.02 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6939;MQ=59.51;MQ0=0;QD=30.28;VQSLOD=9.2326;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2879,235,0 15 71125204 71125204 A G exonic LARP6 synonymous SNV LARP6:NM_001286679:exon3:c.T111C:p.F37F,LARP6:NM_018357:exon3:c.T663C:p.F221F 0.53 0.42 0.77 0.5 0.59 0.5 0.5770 0.4506 0.8283 0.4627 0.4936 0.5907 0.5989 0.5152 0.55 0.45 0.6 0.48 0.57 rs1549317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5825 0.4404 0.8116 0.5901 0.4567 0.4870 0.5906 0.6121 0.5069 0.5228 0.4280 0.7715 0.5927 0.4670 0.5003 0.5718 0.5512 hom 1382.89 44 15 71125204 . A G 1382.89 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=31.43;VQSLOD=9.2268;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1416,123,0 15 72040774 72040774 C T exonic THSD4 synonymous SNV THSD4:NM_001286429:exon8:c.C1176T:p.C392C,THSD4:NM_024817:exon13:c.C2256T:p.C752C 0.2 0.31 0.15 0.082 0.26 0.14 0.2275 0.2892 0.1208 0.0736 0.3284 0.2683 0.2706 0.1382 0.27 0.29 0.25 0.21 0.23 rs1872056 COSM3765815 1(liver);1(lung) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2226 0.2883 0.1276 0.1780 0.0689 0.3338 0.2683 0.2474 0.1442 0.2672 0.2845 0.1627 0.1954 0.0630 0.3156 0.2756 0.2623 hom 3202.90 103 15 72040774 . C T 3202.90 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=31.10;VQSLOD=9.6213;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3236,265,0 15 72191073 72191073 T C exonic MYO9A synonymous SNV MYO9A:NM_006901:exon25:c.A3771G:p.R1257R 0.59 0.52 0.63 0.38 0.76 0.7 0.6901 0.5648 0.6437 0.3784 0.7638 0.7446 0.7181 0.7131 0.68 0.57 0.73 0.53 0.72 rs2415128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6909 0.5631 0.6479 0.7845 0.3722 0.7540 0.7430 0.7172 0.7107 0.6758 0.5715 0.6483 0.7848 0.3815 0.7562 0.7464 0.7102 hom 5396.47 165 15 72191073 . T C 5396.47 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9569;MQ=58.97;MQ0=0;QD=32.71;VQSLOD=7.1379;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,164:165:99:5360,421,0 15 72191266 72191266 C T exonic MYO9A nonsynonymous SNV MYO9A:NM_006901:exon25:c.G3578A:p.G1193E 0.89 0.8 0.96 0.83 0.98 0.95 0.9447 0.8230 0.9619 0.8259 0.9628 0.9723 0.9460 0.9528 0.92 0.83 0.97 0.84 0.95 rs2415129 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.735 0.003 N -1.65 0.872 D 2.2 0.003 N 0.01 0.040 -0.938 0.430 T 0.000 0.000 T . . . 0.103 0.104 3.642 0.448 0.034 0.035 0.086 N c -0.953 -0.737 0.298 0.192 0.651 0.465 0 3.75 0.421 2.616 0.458 0.056 0.163 0.762 0.290 0.992 0.562 8.302 0.310 . ENSG00000213614.5 Thyroid 0.9483 0.8160 0.9651 0.9908 0.8278 0.9612 0.9720 0.9586 0.9525 0.9195 0.8289 0.9678 1 0.8399 0.9585 0.9654 0.9480 hom 7175.42 233 15 72191266 . C T 7175.42 Mask AC=2;AF=1.00;AN=2;DP=233;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1229;MQ=58.30;MQ0=0;QD=30.80;VQSLOD=7.0271;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,233:233:99:7174,563,0 15 72432583 72432583 A G exonic SENP8 nonsynonymous SNV SENP8:NM_001166340:exon2:c.A619G:p.T207A,SENP8:NM_145204:exon2:c.A619G:p.T207A,SENP8:NM_001172109:exon3:c.A619G:p.T207A,SENP8:NM_001172110:exon3:c.A619G:p.T207A,SENP8:NM_001172111:exon3:c.A619G:p.T207A 0.95 0.81 0.99 1. 1. 1. 0.9851 0.8408 0.9923 1 0.9989 0.9992 0.9934 0.9997 0.95 0.85 1. 0.92 0.99 rs930871 . . . . . . . . . . . . . 0.845 0.028 T 0.0 0.026 B 0.0 0.013 B 0.003 0.360 N 1 0.090 P -0.365 0.031 N 0.97 0.425 T -0.01 0.072 N 0.009 0.002 -0.991 0.324 T 0.000 0.000 T . . . -1.314 0.022 0.004 0.527 0.047 0.055 0.113 N c -1.147 -0.971 0.991 0.322 0.706 0.609 0 0.976 0.188 0.879 0.276 -0.297 0.082 0.865 0.305 0.992 0.562 2.848 0.052 . . . 0.9877 0.8354 0.9906 1 1 0.9980 0.9992 0.9940 0.9997 0.9556 0.8465 0.9905 1 1 0.9983 0.9995 0.9868 hom 2500.12 80 15 72432583 . A G 2500.12 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;QD=31.25;VQSLOD=9.2316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2533,193,0 15 72637795 72637795 T C exonic HEXA synonymous SNV HEXA:NM_000520:exon13:c.A1518G:p.E506E,HEXA:NM_001318825:exon13:c.A1551G:p.E517E 0.88 0.55 0.97 1. 1. 1. 0.9641 0.6142 0.9834 1 0.9989 0.9982 0.9835 0.9992 0.87 0.62 1. 0.85 0.97 rs4777502 . . other|Benign not_specified|Tay-Sachs_disease RCV000079051.9|RCV000291094.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0039373:272800:ORPHA845:111385000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9714 0.6025 0.9815 0.9997 1 0.9980 0.9983 0.9874 0.9990 0.8881 0.6115 0.9690 1 0.9994 0.9983 0.9983 0.9786 hom 2547.04 83 15 72637795 . T C 2547.04 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=30.69;VQSLOD=9.3119;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2580,199,0 15 72638892 72638892 T C exonic HEXA nonsynonymous SNV HEXA:NM_000520:exon11:c.A1306G:p.I436V,HEXA:NM_001318825:exon11:c.A1339G:p.I447V 0.88 0.55 0.97 1. 1. 1. 0.9643 0.6167 0.9831 0.9999 0.9989 0.9982 0.9835 0.9985 0.87 0.62 1. 0.85 0.93 rs1800431 . . other|Benign not_specified|Tay-Sachs_disease RCV000079049.9|RCV000283218.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0039373:272800:ORPHA845:111385000 . . . . . . 0.236 0.179 T 0.0 0.026 B 0.0 0.013 B 0.060 0.021 N 1 0.360 P -0.09 0.047 N -3.71 0.954 D 0.67 0.023 N 0.053 0.047 -0.915 0.463 T 0.000 0.000 T . . . 1.480 0.240 13.21 0.759 0.109 0.145 0.182 N c -1.762 -1.776 0.774 0.237 0.707 0.730 0 -7.77 0.011 -0.152 0.101 -2.812 0.002 0.001 0.137 0.474 0.266 9.886 0.402 Glycoside hydrolase family 20\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000213614.5|ENSG00000260729.1|ENSG00000140488.10|ENSG00000213614.5 Artery_Tibial|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal 0.9712 0.6021 0.9812 0.9997 0.9998 0.9980 0.9982 0.9865 0.9984 0.8880 0.6113 0.9690 1 1 0.9983 0.9982 0.9786 hom 6476.59 211 15 72638892 . T C 6476.59 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7596;MQ=59.91;MQ0=0;QD=30.69;VQSLOD=8.0132;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6475,530,0 15 73023937 73023937 T C exonic BBS4 synonymous SNV BBS4:NM_001252678:exon11:c.T390C:p.F130F,BBS4:NM_001320665:exon11:c.T837C:p.F279F,BBS4:NM_033028:exon12:c.T906C:p.F302F 0.96 0.86 0.99 1. 1. 1. 0.9875 0.8612 0.9947 1 1 0.9998 0.9978 1 0.96 0.87 1. 0.99 0.98 rs12914333 . . Benign not_specified RCV000152839.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9902 0.8588 0.9946 1 1 1 0.9997 0.9962 0.9998 0.9608 0.8634 0.9916 1 1 1 0.9996 0.9908 hom 6231.64 207 15 73023937 . T C 6231.64 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8245;MQ=59.48;MQ0=0;QD=30.10;VQSLOD=8.5904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6230,517,0 15 73027478 73027478 T C exonic BBS4 nonsynonymous SNV BBS4:NM_001252678:exon12:c.T545C:p.I182T,BBS4:NM_001320665:exon12:c.T992C:p.I331T,BBS4:NM_033028:exon13:c.T1061C:p.I354T 0.43 0.24 0.48 0.26 0.66 0.59 0.5743 0.3095 0.4942 0.2454 0.6769 0.6557 0.5861 0.5980 0.53 0.32 0.64 0.36 0.66 rs2277598 COSM3999597;COSM3999596 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign|Likely benign|Benign Bardet-Biedl_syndrome|not_provided|not_specified RCV000020938.3|RCV000132688.1|RCV000152842.4 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen C0752166:209900:ORPHA110:5619004|CN221809|CN169374 . . . . . . 0.399 0.105 T 0.0 0.026 B 0.001 0.040 B 0.945 0.076 N 1 0.090 P 0 0.065 N -1.14 0.779 T -0.19 0.100 N 0.111 0.505 -0.953 0.405 T 0.000 0.000 T . . . 0.046 0.098 3.045 0.660 0.077 0.045 0.100 N c -1.287 -1.289 0.999 0.375 0.707 0.730 0 -4.41 0.033 -0.248 0.088 -0.243 0.092 0.000 0.063 0.484 0.268 9.416 0.375 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain . . 0.5753 0.3058 0.4962 0.6729 0.2467 0.6635 0.6521 0.6037 0.6005 0.5274 0.3164 0.4964 0.6879 0.2590 0.6542 0.6407 0.6391 hom 3044.28 100 15 73027478 . T C 3044.28 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=30.44;VQSLOD=9.1496;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3077,232,0 15 73067234 73067234 T C exonic ADPGK synonymous SNV ADPGK:NM_031284:exon2:c.A438G:p.A146A 0.96 0.86 0.99 1. 1. 1. 0.9881 0.8610 0.9948 0.9999 1 0.9998 0.9978 0.9999 0.96 0.88 1. 0.99 0.98 rs11634630 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9902 0.8589 0.9945 1 0.9999 1 0.9997 0.9965 0.9997 0.9610 0.8638 0.9916 1 1 1 0.9996 0.9908 hom 3448.77 113 15 73067234 . T C 3448.77 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5642;MQ=59.37;MQ0=0;QD=30.52;VQSLOD=9.2672;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3448,274,0 15 73614834 73614834 T C exonic HCN4 synonymous SNV HCN4:NM_005477:exon8:c.A3600G:p.P1200P 0.86 0.73 0.95 0.88 0.94 0.87 0.9026 0.7677 0.9643 0.8841 0.9437 0.9274 0.8891 0.8458 0.88 0.76 0.93 0.69 0.61 rs529004 . . Benign not_specified RCV000081299.7 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9077 0.7486 0.9606 0.8803 0.8836 0.9334 0.9315 0.9236 0.8405 0.8876 0.7704 0.9463 0.8833 0.8809 0.9390 0.9391 0.9213 hom 269.69 10 15 73614834 . T C 269.69 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.97;VQSLOD=13.9010;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:303,24,0 15 74219582 74219582 G A exonic LOXL1 nonsynonymous SNV LOXL1:NM_005576:exon1:c.G458A:p.G153D 0.25 0.41 0.17 0.14 0.18 0.27 0.1849 0.3981 0.1642 0.1177 0.1723 0.1614 0.1614 0.2138 0.22 0.36 0.15 0.011 0.19 rs3825942 COSM3754463 5(soft_tissue);2(thyroid);3(large_intestine) other Exfoliation_syndrome\x2c_susceptibility_to RCV000015435.2 . . Glaucoma (exfoliation) 0.05 . 17690259 rs3825942 3E-21 0.002 0.721 D 0.001 0.067 B 0.002 0.063 B 0.007 0.318 N 0.012 0.407 P 1.59 0.404 L 1.43 0.330 T -1.18 0.301 N 0.134 0.445 -0.936 0.433 T 0.000 0.000 T . . . 3.638 0.494 23.2 0.998 0.868 0.665 0.328 D c -0.213 -0.077 1.000 0.747 0.789 0.998 0 3.17 0.354 0.949 0.285 0.921 0.432 0.052 0.213 0.982 0.498 5.508 0.160 . ENSG00000129038.11|ENSG00000129038.11|ENSG00000261801.1|ENSG00000129038.11|ENSG00000129038.11 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Pituitary 0.1787 0.3970 0.1603 0.1720 0.1185 0.1686 0.1581 0.1745 0.2163 0.2179 0.3762 0.1775 0.1351 0.1063 0.1690 0.1563 0.1752 het 1007.97 81 15 74219582 . G A 1007.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.180;DP=81;Dels=0.00;FS=5.992;HRun=0;HaplotypeScore=1.7791;MQ=58.27;MQ0=0;MQRankSum=0.486;QD=12.44;ReadPosRankSum=0.033;VQSLOD=4.9436;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,41:81:99:1038,0,1112 15 74328116 74328116 A G exonic PML nonsynonymous SNV PML:NM_033250:exon7:c.A2170G:p.S724G,PML:NM_033239:exon8:c.A2314G:p.S772G 0.55 0.53 0.53 0.64 0.52 0.54 0.5226 0.5213 0.5384 0.6331 0.5687 0.4982 0.5441 0.5331 0.5 0.51 0.49 0.47 0.34 rs743580 COSM3754464 2(haematopoietic_and_lymphoid_tissue);1(kidney);1(large_intestine) Benign not_specified RCV000455225.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . . . . 0.63 0.024 N 0.015 0.002 -0.930 0.442 T 0.000 0.000 T . . . 0.090 0.102 3.499 0.121 0.002 0.000 0.002 N c -1.321 -1.387 0.998 0.366 0.737 0.974 0 0.623 0.168 0.145 0.159 -0.305 0.080 0.000 0.063 0.000 0.016 2.442 0.042 . ENSG00000067221.9 Nerve_Tibial 0.5232 0.5228 0.5321 0.4989 0.6338 0.5639 0.4964 0.5173 0.5282 0.5295 0.5075 0.5203 0.4702 0.6387 0.5699 0.5204 0.5649 het 1515.25 109 15 74328116 . A G 1515.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.718;DP=109;Dels=0.00;FS=9.087;HRun=1;HaplotypeScore=0.7340;MQ=58.80;MQ0=0;MQRankSum=-0.167;QD=13.90;ReadPosRankSum=-1.106;VQSLOD=4.0028;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,53:109:99:1545,0,1652 15 74328206 74328206 G C exonic PML nonsynonymous SNV PML:NM_033250:exon7:c.G2260C:p.A754P,PML:NM_033239:exon8:c.G2404C:p.A802P 0.16 0.11 0.059 0.24 0.096 0.26 0.1241 0.1059 0.0466 0.2287 0.1021 0.1008 0.1422 0.2366 0.097 0.1 0.095 0.12 0.049 rs743582 COSM3999598 2(haematopoietic_and_lymphoid_tissue);3(soft_tissue) . . . . . . . . . . . 0.052 0.390 T 0.004 0.112 B 0.005 0.104 B . . . 1 0.090 P . . . . . . -0.85 0.232 N 0.059 0.043 -1.031 0.200 T 0.000 0.000 T . . . 0.167 0.110 4.327 0.966 0.300 0.139 0.179 N c -1.029 -1.050 0.999 0.371 0.707 0.730 0 1.22 0.202 0.644 0.243 0.067 0.174 0.000 0.063 0.001 0.043 4.599 0.117 . . . 0.1228 0.1044 0.0560 0.2101 0.2263 0.1017 0.0947 0.1184 0.2369 0.1011 0.0979 0.0601 0.2086 0.2211 0.1040 0.0893 0.1035 het 2521.49 186 15 74328206 . G C 2521.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.203;DP=186;Dels=0.00;FS=5.237;HRun=2;HaplotypeScore=3.8281;MQ=58.68;MQ0=0;MQRankSum=1.875;QD=13.56;ReadPosRankSum=-0.246;VQSLOD=4.1485;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:87,98:186:99:2551,0,2279 15 74336633 74336633 T C exonic PML nonsynonymous SNV PML:NM_033238:exon9:c.T1933C:p.F645L 0.19 0.045 0.29 0.004 0.44 0.26 0.3505 0.0947 0.2980 0.0029 0.3981 0.4587 0.3344 0.2753 0.34 0.11 0.46 0.23 0.43 rs5742915 COSM3754465 11(soft_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . Height . -0.03 20881960 rs5742915 1E-15 0.221 0.228 T 0.0 0.067 B 0.0 0.040 B 0.079 0.023 U 1.000 0.197 P 1.155 0.297 L 1.01 0.411 T 0.31 0.043 N 0.064 0.137 -0.978 0.355 T 0.000 0.000 T . . . -0.685 0.046 0.078 0.722 0.096 0.044 0.099 N c -1.343 -1.353 1.000 0.446 0.707 0.730 0 -3.26 0.047 0.022 0.133 -0.121 0.113 0.000 0.063 0.064 0.173 5.601 0.165 . . . 0.3516 0.0861 0.3047 0.3994 0.0034 0.4008 0.4603 0.3959 0.2777 0.3066 0.0969 0.3369 0.4433 0.0050 0.4053 0.4317 0.3443 hom 5946.10 183 15 74336633 . T C 5946.10 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=32.49;VQSLOD=9.5403;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:5945,463,0 15 74467856 74467856 G A exonic ISLR synonymous SNV ISLR:NM_005545:exon2:c.G657A:p.T219T,ISLR:NM_201526:exon2:c.G657A:p.T219T 0.59 0.41 0.71 0.56 0.7 0.65 0.6416 0.4728 0.6143 0.5855 0.5870 0.6839 0.6388 0.6462 0.61 0.47 0.68 0.59 0.7 rs1052622 COSM1162175 1(haematopoietic_and_lymphoid_tissue);1(pancreas);2(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6424 0.4670 0.6236 0.6532 0.5810 0.5965 0.6858 0.6753 0.6479 0.5902 0.4716 0.6456 0.6656 0.5750 0.5873 0.6538 0.6380 het 1443.05 81 15 74467856 . G A 1443.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.695;DP=81;Dels=0.00;FS=1.055;HRun=0;HaplotypeScore=0.9665;MQ=59.14;MQ0=0;MQRankSum=-2.525;QD=17.82;ReadPosRankSum=-0.464;VQSLOD=4.3034;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,50:81:99:1473,0,679 15 74536401 74536403 AAG - exonic CCDC33 nonframeshift deletion CCDC33:NM_025055:exon2:c.97_99del:p.K34del 0.38 0.27 0.38 0.35 0.61 0.31 0.5208 0.3354 0.3408 0.3377 0.6572 0.6310 0.54 0.3517 0.54 0.35 0.63 . . rs397774110 COSM1374516;COSM1374515 4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5185 0.3289 0.3554 0.5598 0.3450 0.6525 0.6336 0.5541 0.3529 0.5244 0.3380 0.4029 0.5563 0.3250 0.6454 0.6319 0.5459 het 1519.66 82 15 74536400 . TAAG T 1519.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.435;DP=82;FS=0.874;HRun=0;HaplotypeScore=322.0884;MQ=56.84;MQ0=0;MQRankSum=0.281;QD=18.31;ReadPosRankSum=0.499;set=variant2 GT:AD:DP:GQ:PL 0/1:44,39:82:99:1559,0,2254 15 74622678 74622678 G A exonic CCDC33 nonsynonymous SNV CCDC33:NM_001287181:exon2:c.G218A:p.S73N,CCDC33:NM_182791:exon2:c.G218A:p.S73N,CCDC33:NM_025055:exon12:c.G1439A:p.S480N 0.43 0.27 0.39 0.36 0.67 0.49 0.6163 0.3555 0.4024 0.4308 0.7317 0.7110 0.6130 0.5291 0.57 0.33 0.69 0.41 0.56 rs1564782 COSM434283;COSM434282;COSM434281 1(large_intestine) . . . . . . . . . . . 0.47 0.106 T 0.001 0.090 B 0.001 0.063 B 0.041 0.019 N 1 0.090 P 0.2 0.092 N 2.31 0.221 T 0.22 0.047 N 0.025 0.032 -0.929 0.443 T 0.000 0.000 T . . . -0.726 0.044 0.063 0.569 0.055 0.005 0.025 N c -1.265 -1.238 0.801 0.242 0.497 0.185 0 1.52 0.221 0.425 0.209 -0.392 0.064 0.000 0.063 0.000 0.016 4.306 0.103 . ENSG00000261384.1 Testis 0.5696 0.3071 0.3312 0.6229 0.3890 0.7074 0.6945 0.5879 0.4944 0.5604 0.3021 0.3759 0.68 0.3629 0.6989 0.7033 0.6263 het 161.33 14 15 74622678 . G A 161.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.936;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.154;QD=11.52;ReadPosRankSum=0.910;VQSLOD=11.3215;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:191,0,227 15 74741686 74741686 C T exonic UBL7 synonymous SNV UBL7:NM_001286740:exon9:c.G723A:p.R241R,UBL7:NM_001286741:exon9:c.G843A:p.R281R,UBL7:NM_032907:exon9:c.G723A:p.R241R,UBL7:NM_201265:exon9:c.G723A:p.R241R,UBL7:NM_001286739:exon10:c.G723A:p.R241R,UBL7:NM_001286742:exon10:c.G843A:p.R281R 0.0086 0.0008 0.0086 . 0.0089 0.028 0.0110 0.0011 0.0062 0.0001 0.0074 0.0103 0.0148 0.0300 0.0069 0.0014 0.0098 0.011 . rs147593058 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0105 0.0010 0.0067 0.0202 5.799e-05 0.0073 0.0088 0.0132 0.0299 0.0053 0.0007 0.0072 0.0232 0.0006 0.0069 0.0073 0.0112 het 482.85 43 15 74741686 . C T 482.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.118;DP=43;Dels=0.00;FS=1.194;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.328;QD=11.23;ReadPosRankSum=0.449;VQSLOD=4.7316;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,21:43:99:513,0,642 15 75093389 75093389 C T exonic CSK synonymous SNV CSK:NM_004383:exon9:c.C759T:p.G253G,CSK:NM_001127190:exon10:c.C759T:p.G253G 0.15 0.049 0.11 0.17 0.049 0.42 0.1049 0.0489 0.1813 0.1719 0.0618 0.0372 0.1102 0.3385 0.041 0.045 0.038 0.065 . rs2229730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1054 0.0463 0.1682 0.0627 0.1674 0.0610 0.0356 0.0883 0.3331 0.0526 0.0436 0.1504 0.0364 0.1564 0.0641 0.0378 0.0673 het 2495.86 198 15 75093389 . C T 2495.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.910;DP=198;DS;Dels=0.00;FS=1.190;HRun=0;HaplotypeScore=9.4147;MQ=58.96;MQ0=0;MQRankSum=-0.202;QD=12.61;ReadPosRankSum=-1.608;VQSLOD=4.1223;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,95:198:99:2526,0,2476 15 75108636 75108636 G A exonic LMAN1L nonsynonymous SNV LMAN1L:NM_021819:exon2:c.G314A:p.R105Q 0.16 0.05 0.11 0.17 0.049 0.42 0.1171 0.0550 0.2023 0.1860 0.0751 0.0416 0.1224 0.3535 0.04 0.043 0.038 0.054 0.0082 rs3803568 . . . . . . . . . . . . . 0.043 0.413 D 0.054 0.333 B 0.023 0.250 B 0.593 0.110 N 0.938 0.268 P 1.44 0.361 L 0.08 0.616 T -0.39 0.158 N 0.143 0.168 -1.095 0.048 T 0.000 0.001 T . . . 3.221 0.446 22.7 0.944 0.241 0.070 0.129 N c -0.440 -0.402 0.999 0.375 0.497 0.185 0 2.3 0.276 -0.018 0.124 -0.370 0.067 0.030 0.202 0.234 0.225 5.661 0.168 Concanavalin A-like lectin/glucanase domain|Legume-like lectin ENSG00000138621.7|ENSG00000198794.7|ENSG00000138621.7|ENSG00000169410.5|ENSG00000138621.7 Artery_Aorta|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Thyroid 0.1068 0.0457 0.1681 0.0626 0.1697 0.0627 0.0360 0.0895 0.3338 0.0527 0.0430 0.1511 0.0397 0.1572 0.0647 0.0381 0.0672 het 289.45 20 15 75108636 . G A 289.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.279;DP=20;Dels=0.00;FS=2.629;HRun=0;HaplotypeScore=3.3544;MQ=57.66;MQ0=0;MQRankSum=-1.292;QD=14.47;ReadPosRankSum=-0.912;VQSLOD=4.0971;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,11:20:99:319,0,214 15 75113083 75113083 A G exonic LMAN1L synonymous SNV LMAN1L:NM_021819:exon8:c.A882G:p.K294K 0.26 0.43 0.12 0.17 0.052 0.43 0.1365 0.3762 0.1933 0.1789 0.0765 0.0387 0.1362 0.3444 0.15 0.36 0.039 0.2 0.025 rs1531163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1316 0.3864 0.1814 0.0655 0.1748 0.0734 0.0372 0.1021 0.3361 0.1473 0.3636 0.1639 0.0397 0.1617 0.0785 0.0407 0.0984 het 1420.78 117 15 75113083 . A G 1420.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.731;DP=117;Dels=0.00;FS=3.774;HRun=0;HaplotypeScore=3.7365;MQ=59.59;MQ0=0;MQRankSum=0.642;QD=12.14;ReadPosRankSum=0.205;VQSLOD=5.8707;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,54:117:99:1451,0,1677 15 75130093 75130093 T C exonic ULK3 nonsynonymous SNV ULK3:NM_001099436:exon14:c.A1334G:p.K445R,ULK3:NM_001284365:exon14:c.A983G:p.K328R 0.39 0.091 0.54 0.34 0.58 0.53 0.5390 0.2021 0.5066 0.3826 0.5903 0.6109 0.5312 0.5055 0.45 0.17 0.59 0.27 . rs12898397 COSM5713598 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.116 0.312 T 0.997 0.689 D 0.985 0.749 D . . . 0.001 0.810 P 1.955 0.530 M 1.51 0.309 T -0.46 0.150 N 0.194 0.360 -0.894 0.486 T 0.000 0.000 T . . . 2.759 0.393 21.1 0.996 0.744 0.888 0.486 D c 0.295 0.343 1.000 0.747 0.744 0.983 0 5.23 0.725 3.566 0.533 1.061 0.807 1.000 0.715 0.751 0.322 12.501 0.551 MIT ENSG00000178802.13|ENSG00000198794.7|ENSG00000178802.13|ENSG00000178802.13|ENSG00000178802.13|ENSG00000178802.13|ENSG00000178802.13|ENSG00000178802.13|ENSG00000178802.13|ENSG00000140497.12|ENSG00000178802.13|ENSG00000178802.13|ENSG00000140497.12|ENSG00000140474.8 Adipose_Visceral_Omentum|Artery_Tibial|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4976 0.1437 0.4499 0.5164 0.3248 0.5327 0.5870 0.5200 0.4748 0.4357 0.1552 0.4820 0.5336 0.3292 0.5406 0.5761 0.5259 hom 709.76 23 15 75130093 . T C 709.76 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;QD=30.86;VQSLOD=8.6353;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:60.17:743,60,0 15 75131661 75131661 A G exonic ULK3 synonymous SNV ULK3:NM_001099436:exon8:c.T906C:p.A302A,ULK3:NM_001284364:exon8:c.T906C:p.A302A,ULK3:NM_001284365:exon8:c.T555C:p.A185A 0.68 0.6 0.71 0.74 0.69 0.69 0.6787 0.6286 0.6800 0.6978 0.6779 0.6962 0.6962 0.6510 0.69 0.63 0.71 0.58 . rs4886615 COSM1129112 1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6793 0.6041 0.6732 0.6958 0.7066 0.6691 0.6966 0.6899 0.6500 0.6723 0.6222 0.6711 0.7152 0.7174 0.6793 0.6931 0.6875 hom 243.21 10 15 75131661 . A G 243.21 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=24.32;VQSLOD=13.3277;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:276,21,0 15 75131959 75131959 A G exonic ULK3 synonymous SNV ULK3:NM_001099436:exon7:c.T792C:p.F264F,ULK3:NM_001284364:exon7:c.T792C:p.F264F,ULK3:NM_001284365:exon7:c.T441C:p.F147F 0.46 0.35 0.55 0.34 0.58 0.54 0.5620 0.4444 0.5587 0.4076 0.6408 0.6256 0.5 0.4909 0.54 0.41 0.61 0.36 . rs936227 COSM5619116 2(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5205 0.3831 0.4689 0.5283 0.3213 0.5388 0.5998 0.5267 0.4815 0.5014 0.3820 0.4916 0.5464 0.3190 0.5416 0.5783 0.5433 hom 334.06 11 15 75131959 . A G 334.06 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.25;MQ0=0;QD=30.37;VQSLOD=8.3336;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:367,30,0 15 75189930 75189930 A G exonic MPI synonymous SNV MPI:NM_001289156:exon7:c.A981G:p.V327V,MPI:NM_001289157:exon7:c.A948G:p.V316V,MPI:NM_001330372:exon8:c.A1071G:p.V357V,MPI:NM_002435:exon8:c.A1131G:p.V377V 0.34 0.29 0.58 0.23 0.51 0.17 0.4376 0.3326 0.5188 0.2289 0.4354 0.5271 0.4130 0.1971 0.47 0.33 0.55 0.29 0.51 rs1130741 . . Benign|Benign not_specified|Congenital_disorder_of_glycosylation RCV000080011.6|RCV000328204.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4445 0.3320 0.5200 0.4629 0.2196 0.4319 0.5384 0.4590 0.2042 0.4361 0.3422 0.4964 0.5099 0.2201 0.4273 0.5116 0.4306 het 2409.23 174 15 75189930 . A G 2409.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.721;DP=174;Dels=0.00;FS=1.226;HRun=0;HaplotypeScore=4.6898;MQ=59.52;MQ0=0;MQRankSum=0.029;QD=13.85;ReadPosRankSum=-0.059;VQSLOD=5.8245;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,84:174:99:2439,0,2291 15 75305040 75305040 A G exonic SCAMP5 synonymous SNV SCAMP5:NM_138967:exon3:c.A30G:p.P10P,SCAMP5:NM_001178111:exon4:c.A30G:p.P10P,SCAMP5:NM_001178112:exon4:c.A30G:p.P10P 0.32 0.44 0.15 0.41 0.086 0.46 0.1857 0.3941 0.1791 0.4256 0.1131 0.0734 0.1987 0.4237 0.17 0.36 0.072 0.34 . rs7174129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1810 0.4005 0.1778 0.1217 0.4206 0.1133 0.0699 0.1529 0.4179 0.1942 0.3980 0.1957 0.0960 0.3998 0.1157 0.0770 0.1469 het 1677.14 150 15 75305040 . A G 1677.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.858;DP=150;Dels=0.00;FS=13.111;HRun=0;HaplotypeScore=4.5408;MQ=58.59;MQ0=0;MQRankSum=1.464;QD=11.18;ReadPosRankSum=-0.923;VQSLOD=3.6478;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,70:150:99:1707,0,2089 15 75336729 75336729 A G exonic PPCDC nonsynonymous SNV PPCDC:NM_001301102:exon3:c.A138G:p.I46M,PPCDC:NM_021823:exon4:c.A234G:p.I78M 0.82 0.57 0.87 0.87 0.95 0.92 0.8964 0.6229 0.7939 0.8758 0.9385 0.9485 0.9095 0.9230 0.84 0.63 0.95 0.75 0.91 rs2304899 COSM4128401 1(thyroid) . . . . . . . . . . . 0.249 0.199 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.810 P -0.22 0.040 N 0.95 0.433 T 0.87 0.070 N 0.026 0.049 -0.987 0.335 T 0.000 0.000 T . . . 1.165 0.206 11.56 0.756 0.108 0.034 0.084 N c -0.698 -0.441 1.000 0.747 0.628 0.401 0 4.53 0.548 3.742 0.546 0.138 0.222 1.000 0.715 0.989 0.536 8.496 0.321 Flavoprotein . . 0.8971 0.6122 0.8004 0.9247 0.8793 0.9404 0.9491 0.9203 0.9214 0.8435 0.6226 0.8377 0.9040 0.8853 0.9296 0.9417 0.9151 hom 2934.11 93 15 75336729 . A G 2934.11 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6407;MQ=58.92;MQ0=0;QD=31.55;VQSLOD=8.9627;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2967,226,0 15 75498548 75498548 A G exonic C15orf39 synonymous SNV C15orf39:NM_015492:exon2:c.A159G:p.A53A 0.99 0.97 1. 1. 1. 1. 0.9974 0.9738 0.9986 1 1 0.9997 1 0.9999 0.99 0.98 1. 0.98 0.97 rs1466663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9725 0.9983 0.9996 1 1 0.9997 0.9984 0.9998 0.9925 0.9741 0.9988 1 1 1 0.9998 0.9969 hom 3040.20 102 15 75498548 . A G 3040.20 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7865;MQ=58.89;MQ0=0;QD=29.81;VQSLOD=8.1099;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3073,244,0 15 75499602 75499602 C A exonic C15orf39 synonymous SNV C15orf39:NM_015492:exon2:c.C1213A:p.R405R 0.87 0.71 0.97 0.79 0.99 0.97 0.9482 0.7538 0.9555 0.7991 0.9943 0.9893 0.9613 0.9583 0.91 0.76 0.99 0.8 0.83 rs12591506 COSM4128402;COSM4128403 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9523 0.7470 0.9574 0.9328 0.7986 0.9941 0.9933 0.9668 0.9596 0.9133 0.7544 0.9678 0.9305 0.7867 0.9931 0.9934 0.9725 hom 5885.28 181 15 75499602 . C A 5885.28 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7776;MQ=58.56;MQ0=0;QD=32.52;VQSLOD=3.6242;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5885,463,0 15 75499861 75499861 G A exonic C15orf39 nonsynonymous SNV C15orf39:NM_015492:exon2:c.G1472A:p.G491D 0.87 0.71 0.97 0.79 0.99 0.97 0.9482 0.7535 0.9553 0.7994 0.9943 0.9893 0.9614 0.9583 0.91 0.76 0.99 0.8 0.96 rs11072532 COSM4128407;COSM4128406 2(thyroid) . . . . . . . . . . . 0.057 0.433 T 0.002 0.090 B 0.006 0.112 B 0.397 0.132 N 1 0.090 P 1.545 0.392 L 0.01 0.625 T -0.39 0.136 N 0.07 0.447 -0.957 0.397 T 0.000 0.000 T . . . 2.404 0.350 18.85 0.947 0.247 0.196 0.205 N c -0.876 -0.904 1.000 0.747 0.672 0.522 0 -0.234 0.124 -0.129 0.104 -0.045 0.123 0.000 0.063 0.103 0.190 7.766 0.280 . . . 0.9521 0.7468 0.9573 0.9329 0.7979 0.9941 0.9933 0.9668 0.9595 0.9135 0.7543 0.9678 0.9305 0.7887 0.9931 0.9935 0.9743 hom 3785.03 127 15 75499861 . G A 3785.03 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3433;MQ=59.16;MQ0=0;QD=29.80;VQSLOD=6.1207;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,126:127:99:3784,310,0 15 75503147 75503147 G A exonic C15orf39 nonsynonymous SNV C15orf39:NM_015492:exon3:c.G2834A:p.G945D 0.95 0.97 0.99 0.8 1. 0.98 0.9770 0.9713 0.9696 0.8073 0.9958 0.9992 0.9890 0.9767 0.99 0.97 1. 0.91 0.99 rs3743211 . . . . . . . . . . . . . 1.0 0.010 T 0.017 0.163 B 0.019 0.176 B 0.660 0.104 N 1.000 0.588 P -1.895 0.002 N 2.44 0.152 T 2.95 0.001 N 0.022 0.054 -0.988 0.331 T 0.000 0.000 T . . . -0.106 0.084 1.688 0.669 0.079 0.037 0.089 N c -1.324 -1.194 1.000 0.747 0.707 0.730 0 3.07 0.343 0.194 0.168 0.152 0.238 0.084 0.222 0.916 0.392 3.451 0.070 . . . 0.9769 0.9705 0.9720 0.9996 0.8053 0.9964 0.9993 0.9903 0.9774 0.9798 0.9729 0.9821 1 0.7931 0.9957 0.9989 0.9929 hom 2090.90 63 15 75503147 . G A 2090.90 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.63;MQ0=0;QD=33.19;VQSLOD=9.6129;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2124,178,0 15 75650836 75650836 G A exonic MAN2C1 synonymous SNV MAN2C1:NM_001256496:exon18:c.C2073T:p.D691D,MAN2C1:NM_001256494:exon20:c.C2421T:p.D807D,MAN2C1:NM_001256495:exon20:c.C2370T:p.D790D,MAN2C1:NM_006715:exon20:c.C2370T:p.D790D 0.37 0.039 0.43 0.48 0.47 0.54 0.4634 0.1089 0.5093 0.4927 0.4814 0.4843 0.4933 0.5420 0.35 0.11 0.47 0.37 0.47 rs1128933 COSM3754470 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4686 0.0966 0.4995 0.4223 0.5015 0.4871 0.4849 0.4721 0.5423 0.3719 0.1066 0.4928 0.3874 0.5105 0.4865 0.4738 0.4306 hom 2136.81 74 15 75650836 . G A 2136.81 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.46;MQ0=0;QD=28.88;VQSLOD=7.9576;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2170,172,0 15 75970070 75970070 C T exonic CSPG4 nonsynonymous SNV CSPG4:NM_001897:exon9:c.G5108A:p.R1703H 0.26 0.16 0.39 0.19 0.38 0.26 0.3496 0.2100 0.2825 0.1985 0.3925 0.4174 0.3543 0.2699 0.33 0.2 0.4 0.16 0.4 rs8023621 COSM3999602 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.061 0.371 T 0.002 0.090 B 0.001 0.040 B 0.001 0.401 N 0.010 0.411 P 1.915 0.514 L 2.09 0.201 T -2.05 0.470 N 0.195 0.239 -0.923 0.452 T 0.000 0.000 T . . . 3.251 0.450 22.8 0.994 0.621 0.746 0.362 D c -0.302 -0.161 0.990 0.320 0.646 0.450 0 3.09 0.345 1.676 0.370 0.847 0.346 0.997 0.399 1.000 0.888 5.585 0.164 . ENSG00000261043.2|ENSG00000140400.10 Testis|Testis 0.3475 0.1987 0.2930 0.4231 0.2002 0.3888 0.4116 0.3702 0.2668 0.3247 0.2119 0.3365 0.3940 0.2054 0.3799 0.3868 0.3484 hom 5899.59 202 15 75970070 . C T 5899.59 Mask AC=2;AF=1.00;AN=2;DP=202;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5859;MQ=59.77;MQ0=0;QD=29.06;VQSLOD=4.2671;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,195:202:99:5898,490,0 15 75977920 75977920 A G exonic CSPG4 synonymous SNV CSPG4:NM_001897:exon4:c.T3912C:p.P1304P 0.39 0.27 0.53 0.27 0.52 0.46 0.4891 0.3183 0.4187 0.2773 0.5251 0.5540 0.5281 0.4773 0.43 0.27 0.51 0.33 0.48 rs62027240 COSM434326 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4866 0.3029 0.4312 0.5856 0.2784 0.5080 0.5519 0.5122 0.4717 0.4557 0.3229 0.4630 0.5596 0.2876 0.5083 0.5333 0.5031 hom 782.62 25 15 75977920 . A G 782.62 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=43.69;MQ0=0;QD=31.30;VQSLOD=4.4197;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:72.19:816,72,0 15 75979782 75979782 G T exonic CSPG4 synonymous SNV CSPG4:NM_001897:exon3:c.C3624A:p.R1208R 0.38 0.27 0.52 0.23 0.52 0.46 0.4831 0.3119 0.4166 0.2259 0.5153 0.5540 0.5145 0.4722 0.46 0.3 0.54 0.28 0.57 rs8030131 COSM3999603 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4830 0.3060 0.4274 0.5846 0.2319 0.5114 0.5501 0.5128 0.4718 0.4470 0.3172 0.4545 0.5563 0.2377 0.5089 0.5248 0.5 hom 5418.72 170 15 75979782 . G T 5418.72 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1664;MQ=58.72;MQ0=2;QD=31.87;VQSLOD=8.1769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,168:170:99:5418,445,0 15 75980112 75980112 A G exonic CSPG4 synonymous SNV CSPG4:NM_001897:exon3:c.T3294C:p.A1098A 0.44 0.4 0.55 0.31 0.52 0.46 0.5096 0.4324 0.4528 0.3172 0.5171 0.5639 0.5214 0.4784 0.51 0.43 0.55 0.42 0.57 rs4414463 COSM3999604 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5084 0.4296 0.4625 0.5897 0.3249 0.5130 0.5608 0.5306 0.4786 0.4906 0.4332 0.4821 0.5596 0.3259 0.5103 0.5351 0.5082 hom 4714.95 150 15 75980112 . A G 4714.95 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1854;MQ=59.23;MQ0=0;QD=31.43;VQSLOD=8.3672;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,149:150:99:4714,403,0 15 75981507 75981507 A G exonic CSPG4 synonymous SNV CSPG4:NM_001897:exon3:c.T1899C:p.G633G 0.37 0.27 0.5 0.19 0.52 0.47 0.4758 0.3124 0.3491 0.2023 0.4997 0.5557 0.5048 0.4810 0.45 0.29 0.54 0.27 0.48 rs12900539 COSM3754472 3(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4711 0.3042 0.3696 0.5820 0.2071 0.4901 0.5524 0.5010 0.4752 0.4428 0.3195 0.4175 0.5596 0.2166 0.4774 0.5270 0.4918 hom 1826.07 56 15 75981507 . A G 1826.07 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.788;DP=56;Dels=0.00;FS=3.834;HRun=2;HaplotypeScore=0.0000;MQ=48.86;MQ0=0;MQRankSum=-0.508;QD=32.61;ReadPosRankSum=-0.596;VQSLOD=3.3665;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:2,54:56:99:1859,103,0 15 75982428 75982428 C T exonic CSPG4 synonymous SNV CSPG4:NM_001897:exon3:c.G978A:p.G326G 0.28 0.23 0.4 0.19 0.38 0.28 0.3535 0.2372 0.2837 0.1972 0.3909 0.4167 0.3564 0.2859 . . . 0.13 0.41 rs7182906 COSM434332 1(breast);1(thyroid);1(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3505 0.2148 0.2996 0.4214 0.2030 0.3830 0.4119 0.3755 0.2826 0.3360 0.2397 0.3401 0.38 0.2098 0.3791 0.3882 0.3454 hom 1129.14 43 15 75982428 . C T 1129.14 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=48.01;MQ0=0;QD=26.26;VQSLOD=2.5172;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1162,102,0 15 76017452 76017452 C T exonic ODF3L1 nonsynonymous SNV ODF3L1:NM_175881:exon2:c.C122T:p.P41L 0.14 0.11 0.16 0.1 0.24 0.092 0.1984 0.1231 0.2055 0.1114 0.19 0.2428 0.1723 0.1118 0.21 0.13 0.25 0.076 0.25 rs55905564 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.504 D 0.000 0.588 P 3.135 0.884 M 0.03 0.622 T -9.97 0.988 D 0.333 0.395 -1.135 0.016 T 0.000 0.001 T . . . 5.880 0.806 27.4 0.999 0.946 0.930 0.567 D c 0.658 0.531 1.000 0.747 0.549 0.223 0 5.28 0.740 4.673 0.611 0.935 0.490 0.997 0.399 0.505 0.272 14.396 0.664 . . . 0.1982 0.1176 0.2075 0.1492 0.1118 0.1852 0.2499 0.2000 0.1144 0.1943 0.1219 0.1850 0.1788 0.1072 0.1785 0.2511 0.1820 hom 3325.98 100 15 76017452 . C T 3325.98 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6026;MQ=58.87;MQ0=0;QD=33.26;VQSLOD=9.1005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:100:99:3326,262,0 15 76630303 76630303 T C exonic ISL2 synonymous SNV ISL2:NM_145805:exon2:c.T243C:p.Y81Y 0.69 0.21 0.88 0.89 0.8 0.88 0.7886 0.3044 0.9025 0.8890 0.7906 0.8055 0.8087 0.8801 0.64 0.31 0.81 0.52 0.76 rs4636879 COSM4128422 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8026 0.2990 0.8940 0.7743 0.8907 0.7948 0.8076 0.8037 0.8783 0.6718 0.2958 0.8933 0.7682 0.8884 0.8062 0.8124 0.7965 hom 2020.04 78 15 76630303 . T C 2020.04 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.09;MQ0=0;QD=25.90;VQSLOD=7.6563;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2053,171,0 15 77344793 77344793 T A exonic TSPAN3 synonymous SNV TSPAN3:NM_001168412:exon5:c.A411T:p.V137V,TSPAN3:NM_198902:exon5:c.A528T:p.V176V,TSPAN3:NM_005724:exon6:c.A603T:p.V201V 0.49 0.39 0.55 0.4 0.69 0.48 0.5999 0.4402 0.5063 0.4160 0.6212 0.6777 0.6443 0.5371 0.61 0.45 0.68 0.55 0.65 rs11737 COSM3754479 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5992 0.4375 0.5139 0.7207 0.4016 0.6218 0.6767 0.6384 0.5402 0.5906 0.4600 0.5609 0.7252 0.3876 0.6159 0.6796 0.6163 hom 2649.26 88 15 77344793 . T A 2649.26 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7825;MQ=58.22;MQ0=0;QD=30.11;VQSLOD=8.4962;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:88:99:2682,208,0 15 77407114 77407114 C G exonic PEAK1 nonsynonymous SNV PEAK1:NM_024776:exon8:c.G4625C:p.S1542T 0.2 0.07 0.25 0.22 0.29 0.22 0.2491 0.1036 0.2767 0.2026 0.2760 0.2831 0.2511 0.1925 0.23 0.11 0.29 0.25 0.26 rs1867780 COSM3999606;COSM3999607 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.306 0.142 T 0.003 0.102 B 0.005 0.104 B 0.318 0.143 U 1.000 0.198 P -0.09 0.047 N -0.33 0.683 T -0.34 0.127 N 0.069 0.056 -1.034 0.192 T 0.000 0.000 T . . . 1.115 0.201 11.30 0.909 0.195 0.932 0.573 D c -0.517 -0.333 1.000 0.467 0.706 0.609 0 3.49 0.389 1.677 0.370 0.935 0.490 1.000 0.715 0.491 0.269 7.182 0.248 Protein kinase domain|Protein kinase-like domain ENSG00000140368.8|ENSG00000140391.10|ENSG00000173517.6|ENSG00000173517.6|ENSG00000173517.6|ENSG00000173517.6|ENSG00000173517.6|ENSG00000173517.6|ENSG00000173517.6|ENSG00000140391.10 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Thyroid|Whole_Blood 0.2524 0.1020 0.2745 0.2950 0.2003 0.2759 0.2807 0.2679 0.1968 0.2254 0.1104 0.2859 0.2815 0.1881 0.2705 0.2785 0.2732 het 819.56 62 15 77407114 . C G 819.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.735;DP=62;Dels=0.00;FS=3.617;HRun=4;HaplotypeScore=4.4757;MQ=59.25;MQ0=0;MQRankSum=0.649;QD=13.22;ReadPosRankSum=-1.637;VQSLOD=4.3910;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,33:62:99:850,0,823 15 77450964 77450964 C T exonic PEAK1 nonsynonymous SNV PEAK1:NM_024776:exon6:c.G3212A:p.R1071K 0.2 0.079 0.26 0.11 0.38 0.22 0.2973 0.1105 0.1996 0.1080 0.3256 0.3698 0.3185 0.2699 0.28 0.11 0.36 0.13 0.36 rs12909704 COSM3754480;COSM3754481 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.068 0.357 T 0.002 0.090 B 0.002 0.063 B 0.985 0.081 N 1 0.090 P 0.69 0.170 N -0.26 0.672 T 0.11 0.057 N 0.057 0.040 -1.012 0.263 T 0.000 0.000 T . . . -0.225 0.074 0.973 0.936 0.229 0.068 0.127 N c -0.879 -0.843 0.977 0.297 0.706 0.609 0 2.54 0.295 1.459 0.346 0.789 0.320 0.006 0.172 0.076 0.179 8.061 0.296 . ENSG00000260787.1|ENSG00000140382.10|ENSG00000260787.1|ENSG00000140382.10|ENSG00000140382.10|ENSG00000260787.1|ENSG00000260787.1|ENSG00000260787.1|ENSG00000140391.10|ENSG00000260787.1|ENSG00000140382.10|ENSG00000260787.1|ENSG00000260787.1|ENSG00000260787.1|ENSG00000260787.1|ENSG00000140382.10|ENSG00000173517.6|ENSG00000260787.1|ENSG00000259652.1|ENSG00000260787.1|ENSG00000260787.1|ENSG00000140382.10|ENSG00000260787.1|ENSG00000269951.1|ENSG00000259652.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.2960 0.1051 0.2039 0.3822 0.1079 0.3275 0.3717 0.3290 0.2659 0.2760 0.1061 0.2398 0.4007 0.1084 0.3280 0.3785 0.3056 het 747.99 77 15 77450964 . C T 747.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.951;DP=77;Dels=0.00;FS=4.633;HRun=1;HaplotypeScore=1.5115;MQ=59.19;MQ0=0;MQRankSum=0.468;QD=9.71;ReadPosRankSum=-0.941;VQSLOD=5.9164;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,29:77:99:778,0,1421 15 77907145 77907145 G A exonic LINGO1 synonymous SNV LINGO1:NM_032808:exon2:c.C1104T:p.S368S,LINGO1:NM_001301198:exon3:c.C1086T:p.S362S,LINGO1:NM_001301194:exon4:c.C1086T:p.S362S,LINGO1:NM_001301195:exon4:c.C1086T:p.S362S,LINGO1:NM_001301197:exon4:c.C1086T:p.S362S,LINGO1:NM_001301199:exon4:c.C1086T:p.S362S,LINGO1:NM_001301200:exon4:c.C1086T:p.S362S,LINGO1:NM_001301192:exon5:c.C1086T:p.S362S,LINGO1:NM_001301186:exon6:c.C1086T:p.S362S,LINGO1:NM_001301187:exon6:c.C1086T:p.S362S,LINGO1:NM_001301189:exon6:c.C1086T:p.S362S,LINGO1:NM_001301191:exon6:c.C1086T:p.S362S 0.52 0.57 0.42 0.6 0.41 0.57 0.4576 0.5483 0.3586 0.6042 0.4685 0.4065 0.4678 0.5887 0.42 0.51 0.37 0.51 . rs3743481 COSM1563347 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4348 0.5328 0.3456 0.4444 0.5903 0.4517 0.3820 0.4187 0.5754 0.4362 0.5149 0.3777 0.4305 0.5834 0.4452 0.3766 0.4232 het 188.48 18 15 77907145 . G A 188.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.706;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=58.71;MQ0=0;MQRankSum=0.971;QD=10.47;ReadPosRankSum=-0.795;VQSLOD=5.9731;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:218,0,258 15 77907535 77907535 C G exonic LINGO1 synonymous SNV LINGO1:NM_032808:exon2:c.G714C:p.L238L,LINGO1:NM_001301198:exon3:c.G696C:p.L232L,LINGO1:NM_001301194:exon4:c.G696C:p.L232L,LINGO1:NM_001301195:exon4:c.G696C:p.L232L,LINGO1:NM_001301197:exon4:c.G696C:p.L232L,LINGO1:NM_001301199:exon4:c.G696C:p.L232L,LINGO1:NM_001301200:exon4:c.G696C:p.L232L,LINGO1:NM_001301192:exon5:c.G696C:p.L232L,LINGO1:NM_001301186:exon6:c.G696C:p.L232L,LINGO1:NM_001301187:exon6:c.G696C:p.L232L,LINGO1:NM_001301189:exon6:c.G696C:p.L232L,LINGO1:NM_001301191:exon6:c.G696C:p.L232L 0.72 0.68 0.66 0.8 0.65 0.8 0.6693 0.6724 0.6128 0.7857 0.6659 0.6383 0.6511 0.7740 0.65 0.68 0.64 0.77 . rs2271396 COSM4128423 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6674 0.6739 0.6249 0.6210 0.7873 0.6688 0.6359 0.6578 0.7737 0.6556 0.6740 0.6539 0.6225 0.7783 0.6658 0.6291 0.6677 het 1916.36 135 15 77907535 . C G 1916.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.461;DP=135;Dels=0.00;FS=2.199;HRun=0;HaplotypeScore=5.6899;MQ=58.72;MQ0=0;MQRankSum=-0.216;QD=14.20;ReadPosRankSum=0.560;VQSLOD=5.1263;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,72:135:99:1946,0,1784 15 77907775 77907775 T C exonic LINGO1 synonymous SNV LINGO1:NM_032808:exon2:c.A474G:p.L158L,LINGO1:NM_001301198:exon3:c.A456G:p.L152L,LINGO1:NM_001301194:exon4:c.A456G:p.L152L,LINGO1:NM_001301195:exon4:c.A456G:p.L152L,LINGO1:NM_001301197:exon4:c.A456G:p.L152L,LINGO1:NM_001301199:exon4:c.A456G:p.L152L,LINGO1:NM_001301200:exon4:c.A456G:p.L152L,LINGO1:NM_001301192:exon5:c.A456G:p.L152L,LINGO1:NM_001301186:exon6:c.A456G:p.L152L,LINGO1:NM_001301187:exon6:c.A456G:p.L152L,LINGO1:NM_001301189:exon6:c.A456G:p.L152L,LINGO1:NM_001301191:exon6:c.A456G:p.L152L 0.72 0.68 0.66 0.83 0.65 0.8 0.6703 0.6721 0.6123 0.8007 0.6661 0.6381 0.6529 0.7744 0.65 0.69 0.64 0.76 . rs2271397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6683 0.6737 0.6246 0.6209 0.8028 0.6681 0.6355 0.6585 0.7742 0.6542 0.6720 0.6555 0.6208 0.7897 0.6656 0.6263 0.6660 het 2843.09 239 15 77907775 . T C 2843.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.501;DP=239;DS;Dels=0.00;FS=0.535;HRun=0;HaplotypeScore=1.9811;MQ=59.45;MQ0=0;MQRankSum=1.307;QD=11.90;ReadPosRankSum=0.699;VQSLOD=6.6068;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,105:239:99:2873,0,3581 15 77907784 77907784 G A exonic LINGO1 synonymous SNV LINGO1:NM_032808:exon2:c.C465T:p.I155I,LINGO1:NM_001301198:exon3:c.C447T:p.I149I,LINGO1:NM_001301194:exon4:c.C447T:p.I149I,LINGO1:NM_001301195:exon4:c.C447T:p.I149I,LINGO1:NM_001301197:exon4:c.C447T:p.I149I,LINGO1:NM_001301199:exon4:c.C447T:p.I149I,LINGO1:NM_001301200:exon4:c.C447T:p.I149I,LINGO1:NM_001301192:exon5:c.C447T:p.I149I,LINGO1:NM_001301186:exon6:c.C447T:p.I149I,LINGO1:NM_001301187:exon6:c.C447T:p.I149I,LINGO1:NM_001301189:exon6:c.C447T:p.I149I,LINGO1:NM_001301191:exon6:c.C447T:p.I149I 0.72 0.68 0.65 0.79 0.65 0.8 0.6680 0.6713 0.6118 0.7809 0.6656 0.6371 0.6496 0.7733 0.65 0.68 0.64 0.76 . rs2271398 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6660 0.6726 0.6237 0.6171 0.7833 0.6674 0.6346 0.6569 0.7732 0.6521 0.6708 0.6502 0.6175 0.7735 0.6652 0.6251 0.6643 het 2766.65 222 15 77907784 . G A 2766.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.865;DP=222;DS;Dels=0.00;FS=1.212;HRun=1;HaplotypeScore=2.6961;MQ=59.41;MQ0=0;MQRankSum=-1.626;QD=12.46;ReadPosRankSum=0.239;VQSLOD=5.9055;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,101:222:99:2797,0,3320 15 78390414 78390414 T C exonic SH2D7 nonsynonymous SNV SH2D7:NM_001101404:exon3:c.T410C:p.M137T 0.42 0.53 0.34 0.25 0.45 0.46 0.4448 0.5416 0.3550 0.3007 0.5120 0.4560 0.4629 0.4456 0.46 0.52 0.42 0.35 . rs2289524 COSM4128427;COSM4128426 1(thyroid) . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1e-37 0.810 P -0.91 0.013 N 1.49 0.396 T 4.02 0.005 N 0.016 0.026 -0.915 0.462 T 0.000 0.000 T . . . -2.064 0.007 0.001 0.472 0.038 0.010 0.038 N c -1.424 -1.284 0.990 0.319 0.497 0.185 0 1.28 0.206 0.057 0.140 -0.439 0.057 0.007 0.175 0.471 0.266 4.785 0.125 SH2 domain ENSG00000136425.8|ENSG00000136425.8|ENSG00000136425.8|ENSG00000136425.8|ENSG00000166411.9|ENSG00000136425.8|ENSG00000136425.8|ENSG00000260776.1|ENSG00000136425.8|ENSG00000136425.8|ENSG00000136425.8|ENSG00000136425.8 Artery_Tibial|Brain_Cortex|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.4160 0.5202 0.3276 0.3988 0.2661 0.5006 0.4342 0.4379 0.4205 0.4536 0.5261 0.3816 0.4437 0.2713 0.4871 0.4278 0.4490 het 401.95 35 15 78390414 . T C 401.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.065;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9662;MQ=59.47;MQ0=0;MQRankSum=0.861;QD=11.48;ReadPosRankSum=0.723;VQSLOD=6.6412;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,17:35:99:432,0,463 15 78398146 78398146 G A exonic CIB2 synonymous SNV CIB2:NM_001271889:exon3:c.C330T:p.D110D,CIB2:NM_001271888:exon4:c.C348T:p.D116D,CIB2:NM_001301224:exon4:c.C492T:p.D164D,CIB2:NM_006383:exon5:c.C477T:p.D159D 0.13 0.07 0.16 0.023 0.25 0.17 0.2029 0.0774 0.1625 0.0178 0.3105 0.2527 0.2291 0.1619 0.19 0.078 0.24 0.12 0.21 rs10456 COSM3754486 1(large_intestine) Benign not_specified RCV000218695.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2054 0.0721 0.1645 0.2853 0.0176 0.3075 0.2475 0.2359 0.1636 0.2006 0.0760 0.1814 0.3333 0.0155 0.2968 0.2654 0.2577 het 1864.25 131 15 78398146 . G A 1864.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.859;DP=131;Dels=0.00;FS=2.321;HRun=0;HaplotypeScore=3.4308;MQ=59.65;MQ0=0;MQRankSum=0.836;QD=14.23;ReadPosRankSum=1.599;VQSLOD=5.8628;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,72:131:99:1894,0,1484 15 78466037 78466037 C G exonic ACSBG1 nonsynonymous SNV ACSBG1:NM_001199377:exon13:c.G1975C:p.E659Q,ACSBG1:NM_015162:exon13:c.G1987C:p.E663Q 0.0022 0.0008 0.0029 . 0.003 0.0051 0.0034 0.0008 0.0012 0 0.0027 0.0046 0.0066 0.0034 0.0042 0.0011 0.0058 0.011 0.0082 rs137988972 . . . . . . . . . . . . . 0.391 0.108 T 0.002 0.102 B 0.006 0.112 B 0.002 0.381 N 0.998 0.445 D 0.635 0.160 N 2.8 0.111 T -0.6 0.178 N 0.121 0.147 -1.076 0.081 T 0.019 0.078 T 0.003 0.078 T 2.797 0.397 21.3 0.973 0.328 0.973 0.739 D c -0.213 -0.041 1.000 0.747 0.615 0.372 0 4.42 0.526 4.120 0.574 0.009 0.139 1.000 0.715 0.970 0.461 15.347 0.739 . . . 0.0034 0.0006 0.0011 0.0032 0 0.0024 0.0052 0.0029 0.0031 0.0029 0.0010 0.0024 0.0066 0 0.0020 0.0044 0.0031 het 1263.48 119 15 78466037 . C G 1263.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.405;DP=119;Dels=0.00;FS=0.694;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.332;QD=10.62;ReadPosRankSum=-0.138;VQSLOD=4.7066;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,49:119:99:1293,0,1806 15 78466127 78466127 T C exonic ACSBG1 nonsynonymous SNV ACSBG1:NM_001199377:exon13:c.A1885G:p.M629V,ACSBG1:NM_015162:exon13:c.A1897G:p.M633V 0.53 0.73 0.44 0.29 0.5 0.59 0.5024 0.6901 0.3975 0.3078 0.4776 0.4995 0.4890 0.5813 0.56 0.69 0.5 0.62 0.55 rs2304824 COSM3754488 1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.73 0.040 T 0.0 0.026 B 0.0 0.013 B 0.115 0.192 N 1 0.090 P -1.745 0.003 N 1.71 0.342 T 1.38 0.009 N 0.026 0.020 -0.986 0.337 T 0.000 0.000 T . . . -0.563 0.052 0.154 0.642 0.072 0.010 0.038 N c -1.276 -1.130 1.000 0.408 0.615 0.372 0 -0.040 0.131 -0.827 0.045 -0.382 0.065 0.000 0.063 0.937 0.410 0.144 0.001 . ENSG00000166411.9|ENSG00000166411.9|ENSG00000166411.9 Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal 0.4942 0.6965 0.3974 0.5446 0.3047 0.4752 0.5007 0.4896 0.5800 0.5458 0.6997 0.4224 0.53 0.3092 0.4851 0.5044 0.5244 het 1245.43 95 15 78466127 . T C 1245.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.975;DP=95;Dels=0.00;FS=5.265;HRun=0;HaplotypeScore=4.9518;MQ=59.41;MQ0=0;MQRankSum=0.534;QD=13.11;ReadPosRankSum=0.951;VQSLOD=5.0241;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,45:95:99:1275,0,1308 15 78565478 78565478 C T exonic DNAJA4 synonymous SNV DNAJA4:NM_001130182:exon3:c.C355T:p.L119L,DNAJA4:NM_001130183:exon3:c.C274T:p.L92L,DNAJA4:NM_018602:exon4:c.C442T:p.L148L 0.43 0.33 0.43 0.43 0.5 0.5 0.4810 0.3804 0.3601 0.4173 0.4430 0.5241 0.5297 0.5002 0.48 0.39 0.53 0.42 0.38 rs7163689 COSM3999608;COSM3999609 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4751 0.3759 0.3642 0.5372 0.4224 0.4441 0.5259 0.4926 0.4894 0.4631 0.3831 0.4033 0.5662 0.4363 0.4441 0.5164 0.4897 het 1469.21 175 15 78565478 . C T 1469.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.523;DP=175;Dels=0.00;FS=2.825;HRun=1;HaplotypeScore=2.9861;MQ=58.74;MQ0=0;MQRankSum=-0.531;QD=8.40;ReadPosRankSum=-0.138;VQSLOD=5.5312;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,64:175:99:1499,0,2901 15 78632830 78632830 C G exonic CRABP1 synonymous SNV CRABP1:NM_004378:exon1:c.C60G:p.L20L 0.53 0.34 0.71 0.5 0.63 0.6 0.6417 0.4120 0.6291 0.5075 0.6721 0.6911 0.6570 0.6381 0.58 0.38 0.68 0.47 0.5 rs1127472 COSM434365 3(thyroid);1(thymus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6218 0.3644 0.6047 0.5818 0.4875 0.6452 0.6833 0.6337 0.6154 0.5787 0.3890 0.5849 0.5464 0.5049 0.6341 0.6815 0.6247 het 207.86 13 15 78632830 . C G 207.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.524;DP=13;Dels=0.00;FS=2.632;HRun=0;HaplotypeScore=0.9933;MQ=60.00;MQ0=0;MQRankSum=-0.696;QD=15.99;ReadPosRankSum=1.855;VQSLOD=5.4735;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,8:13:99:238,0,103 15 78758677 78758677 G C exonic IREB2 nonsynonymous SNV IREB2:NM_001320942:exon5:c.G304C:p.V102L,IREB2:NM_001320943:exon5:c.G475C:p.V159L,IREB2:NM_004136:exon5:c.G475C:p.V159L 0.98 0.92 1. 1. 1. 1. 0.9916 0.9070 0.9961 1 1 0.9999 0.9978 1 0.97 0.9 1. 0.95 1. rs2958720 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9937 0.9072 0.9968 0.9999 1 1 0.9998 0.9980 0.9999 0.9722 0.9021 0.9964 1 1 1 0.9998 0.9990 hom 2156.19 64 15 78758677 . G C 2156.19 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8633;MQ=59.28;MQ0=0;QD=33.69;VQSLOD=8.5785;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2189,172,0 15 78780104 78780104 T C exonic IREB2 nonsynonymous SNV IREB2:NM_001320941:exon13:c.T989C:p.I330T,IREB2:NM_001320942:exon14:c.T1568C:p.I523T,IREB2:NM_004136:exon14:c.T1739C:p.I580T 0.98 0.91 1. 1. 1. 1. 0.9910 0.9004 0.9961 1 1 0.9999 0.9978 1 0.96 0.9 1. 0.96 0.99 rs2230940 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.210 P -3.65 0.000 N 2.45 0.150 T 5.59 0.000 N 0.046 0.425 -0.944 0.420 T 0.000 0.000 T . . . 1.428 0.235 12.94 0.359 0.023 0.142 0.181 N c -1.083 -0.682 1.000 0.451 0.707 0.730 0 4.93 0.643 3.445 0.524 0.069 0.176 0.996 0.391 0.996 0.625 9.226 0.364 . . . 0.9931 0.8997 0.9963 0.9999 1 1 0.9998 0.9976 0.9999 0.9702 0.8950 0.9964 1 1 1 0.9998 0.9990 hom 3996.49 131 15 78780104 . T C 3996.49 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4896;MQ=58.62;MQ0=0;QD=30.51;VQSLOD=9.2539;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:3996,307,0 15 78789488 78789488 C T exonic IREB2 synonymous SNV IREB2:NM_001320941:exon20:c.C1866T:p.A622A,IREB2:NM_001320942:exon21:c.C2445T:p.A815A,IREB2:NM_004136:exon21:c.C2616T:p.A872A 0.43 0.24 0.45 0.46 0.6 0.47 0.5439 0.3086 0.4924 0.4754 0.5783 0.6090 0.5275 0.4882 0.51 0.31 0.61 0.46 0.52 rs13180 COSM5425341 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5453 0.2980 0.4968 0.5302 0.4791 0.5751 0.6145 0.5574 0.4882 0.5096 0.2973 0.5024 0.5134 0.4900 0.6038 0.6087 0.5825 het 691.10 76 15 78789488 . C T 691.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.984;DP=76;Dels=0.00;FS=0.890;HRun=0;HaplotypeScore=0.9995;MQ=58.62;MQ0=0;MQRankSum=1.978;QD=9.09;ReadPosRankSum=0.214;VQSLOD=5.7935;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,29:76:99:721,0,1179 15 78825562 78825562 C T exonic HYKK synonymous SNV HYKK:NM_001013619:exon5:c.C672T:p.H224H 0.24 0.1 0.22 0.15 0.37 0.38 0.3398 0.1566 0.1923 0.1561 0.3637 0.4088 0.3311 0.3633 0.34 0.17 0.41 0.21 0.39 rs12906951 COSM1129104 1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3316 0.1524 0.1970 0.3376 0.1644 0.3615 0.4157 0.3472 0.3306 0.3245 0.1617 0.2404 0.3411 0.1846 0.3720 0.4254 0.3571 hom 1795.55 57 15 78825562 . C T 1795.55 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=31.50;VQSLOD=9.5218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1829,144,0 15 78922194 78922194 G A exonic CHRNB4 synonymous SNV CHRNB4:NM_000750:exon5:c.C453T:p.S151S 0.022 0.0015 0.039 . 0.065 0.017 0.0345 0.0079 0.0222 0.0001 0.0388 0.0473 0.0431 0.0237 0.038 0.012 0.051 0.033 0.025 rs55919125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0345 0.0079 0.0239 0.0525 5.798e-05 0.0402 0.0468 0.0425 0.0228 0.0341 0.0103 0.0442 0.0530 0 0.0418 0.0487 0.0358 het 1187.81 90 15 78922194 . G A 1187.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.481;DP=90;Dels=0.00;FS=1.823;HRun=0;HaplotypeScore=1.5779;MQ=60.00;MQ0=0;MQRankSum=-1.459;QD=13.20;ReadPosRankSum=0.842;VQSLOD=5.6602;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,47:90:99:1218,0,1097 15 79054900 79054900 C G exonic ADAMTS7 nonsynonymous SNV ADAMTS7:NM_014272:exon23:c.G4748C:p.G1583A 0.67 0.72 0.67 0.59 0.75 0.59 0.6628 0.7422 0.5310 0.6062 0.5913 0.7084 0.6749 0.5583 0.73 0.75 0.72 0.75 0.43 rs7495616 COSM4128432 2(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.000 0.491 N 0.984 0.248 P -2.045 0.002 N 0.31 0.586 T 2.75 0.002 N 0.076 0.067 -0.926 0.448 T 0.000 0.000 T . . . 0.985 0.188 10.58 0.237 0.010 0.022 0.063 N c -0.933 -0.625 1.000 0.747 0.507 0.198 0 4.59 0.561 3.672 0.541 0.043 0.157 0.998 0.411 0.838 0.350 13.544 0.610 . ENSG00000261143.1|ENSG00000261143.1|ENSG00000136378.10|ENSG00000261143.1|ENSG00000261303.1|ENSG00000261143.1|ENSG00000238166.2|ENSG00000261303.1 Adipose_Subcutaneous|Artery_Aorta|Cells_EBV-transformed_lymphocytes|Heart_Atrial_Appendage|Muscle_Skeletal|Nerve_Tibial|Testis|Testis 0.6541 0.7435 0.5572 0.6514 0.6033 0.5895 0.7207 0.6618 0.5386 0.7144 0.7515 0.6086 0.6767 0.6143 0.6249 0.7346 0.6643 het 281.88 29 15 79054900 . C G 281.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.926;DP=29;Dels=0.00;FS=3.780;HRun=4;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=0.598;QD=9.72;ReadPosRankSum=-0.111;VQSLOD=5.1859;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,12:29:99:312,0,512 15 79058572 79058572 T G exonic ADAMTS7 synonymous SNV ADAMTS7:NM_014272:exon19:c.A3681C:p.R1227R 0.93 0.87 0.9 0.99 0.95 0.95 0.9311 0.8933 0.8569 0.9871 0.8793 0.9459 0.9056 0.9401 0.93 0.9 0.95 0.77 0.87 rs1809421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9283 0.8957 0.8632 0.9412 0.9865 0.8807 0.9488 0.9246 0.9399 0.9242 0.8915 0.8914 0.9172 0.9858 0.8852 0.9488 0.9059 hom 1554.54 54 15 79058572 . T G 1554.54 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.67;MQ0=0;QD=28.79;VQSLOD=7.9908;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1588,135,0 15 79058923 79058923 G A exonic ADAMTS7 synonymous SNV ADAMTS7:NM_014272:exon19:c.C3330T:p.P1110P 0.95 0.92 0.95 0.92 0.98 0.98 0.9750 0.9119 0.9525 0.9415 0.9728 0.9871 0.9709 0.9909 0.98 0.94 0.99 0.34 0.5 rs1809422 COSM4128434 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9712 0.9243 0.9412 0.9884 0.9363 0.9641 0.9866 0.9744 0.9882 0.9534 0.9187 0.9396 0.9698 0.9251 0.9433 0.9791 0.9598 hom 627.87 22 15 79058923 . G A 627.87 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50.18;MQ0=1;QD=28.54;VQSLOD=4.9266;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,21:22:54.16:661,54,0 15 79089007 79089007 T C exonic ADAMTS7 synonymous SNV ADAMTS7:NM_014272:exon4:c.A744G:p.V248V 0.79 0.75 0.89 0.86 0.76 0.74 0.7736 0.7398 0.8917 0.8787 0.7524 0.7487 0.7786 0.7656 0.75 0.73 0.75 0.81 0.76 rs3743057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7798 0.7394 0.8798 0.8079 0.8783 0.7540 0.7458 0.7815 0.7679 0.7508 0.7391 0.8652 0.7848 0.8944 0.7607 0.7325 0.7515 hom 7222.57 211 15 79089007 . T C 7222.57 Mask AC=2;AF=1.00;AN=2;DP=211;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.9650;MQ=59.80;MQ0=0;QD=34.23;VQSLOD=5.4997;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:7222,566,0 15 79092603 79092603 G A exonic ADAMTS7 synonymous SNV ADAMTS7:NM_014272:exon2:c.C387T:p.H129H 0.41 0.56 0.38 0.33 0.33 0.4 0.3821 0.5269 0.4874 0.3385 0.4351 0.3319 0.4086 0.4210 0.35 0.47 0.3 0.32 0.34 rs6495329 COSM329117 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3727 0.5124 0.4527 0.3978 0.3343 0.4175 0.3117 0.3728 0.4178 0.3814 0.4988 0.4375 0.4238 0.3375 0.3967 0.3102 0.3867 hom 678.83 23 15 79092603 . G A 678.83 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.22;MQ0=0;QD=29.51;VQSLOD=7.6290;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.18:712,57,0 15 79217690 79217690 G C exonic CTSH synonymous SNV CTSH:NM_004390:exon10:c.C792G:p.T264T,CTSH:NM_001319137:exon11:c.C390G:p.T130T 1. 1. 1. 1. 1. 1. 0.9999 0.9986 1 1 1 1.0000 1 1 1. 1. 1. 0.98 1. rs2044226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9980 0.9999 1 1 1 0.9999 1 1 0.9996 0.9992 0.9988 1 1 1 0.9999 0.9990 hom 2992.41 95 15 79217690 . G C 2992.41 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6766;MQ=59.61;MQ0=0;QD=31.50;VQSLOD=8.4598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3025,235,0 15 79224747 79224747 C T exonic CTSH synonymous SNV CTSH:NM_004390:exon6:c.G459A:p.A153A 0.3 0.52 0.22 0.32 0.19 0.17 0.2207 0.4548 0.1853 0.3308 0.1958 0.1925 0.2247 0.1642 0.28 0.45 0.19 0.38 0.24 rs13345 COSM1162588 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2144 0.4557 0.1888 0.2127 0.3275 0.1908 0.1905 0.2205 0.1621 0.2663 0.4433 0.2105 0.1933 0.3069 0.1932 0.1837 0.2245 het 1097.40 75 15 79224747 . C T 1097.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.688;DP=75;Dels=0.00;FS=4.712;HRun=1;HaplotypeScore=2.5986;MQ=57.74;MQ0=0;MQRankSum=0.282;QD=14.63;ReadPosRankSum=-0.612;VQSLOD=4.4456;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,41:75:99:1127,0,731 15 79298523 79298523 G A exonic RASGRF1 synonymous SNV RASGRF1:NM_002891:exon15:c.C2119T:p.L707L 0.066 0.0061 0.06 0.097 0.12 0.069 0.0865 0.0178 0.0359 0.1236 0.0493 0.1068 0.0837 0.0793 0.076 0.022 0.1 0.043 0.15 rs894780 COSM3999610 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0846 0.0166 0.0418 0.1338 0.1208 0.0550 0.1038 0.0956 0.0795 0.0677 0.0177 0.0502 0.1788 0.1162 0.0524 0.0932 0.0784 het 1599.97 113 15 79298523 . G A 1599.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.919;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8658;MQ=59.05;MQ0=0;MQRankSum=1.004;QD=14.16;ReadPosRankSum=1.694;VQSLOD=6.0679;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,60:113:99:1630,0,1441 15 79606137 79606137 G A exonic TMED3 synonymous SNV TMED3:NM_001301203:exon2:c.G207A:p.V69V,TMED3:NM_001330376:exon2:c.G207A:p.V69V,TMED3:NM_007364:exon2:c.G207A:p.V69V 0.98 0.95 0.99 0.98 1. 1. 0.9916 0.9556 0.9693 0.9787 1 0.9999 0.9967 0.9993 0.98 0.95 1. 0.98 1. rs3825933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.9560 0.9694 1 0.9797 1 0.9999 0.9936 0.9993 0.9849 0.9535 0.9773 1 0.9790 1 0.9996 0.9969 hom 3706.27 111 15 79606137 . G A 3706.27 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8273;MQ=59.79;MQ0=0;QD=33.39;VQSLOD=8.8770;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3706,307,0 15 79614418 79614418 A G exonic TMED3 synonymous SNV TMED3:NM_007364:exon3:c.A516G:p.A172A 0.98 0.92 1. 1. 1. 1. 0.9940 0.9326 0.9982 1 1 0.9999 0.9967 0.9998 0.98 0.93 1. 0.99 1. rs906439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9951 0.9309 0.9969 1 1 1 0.9999 0.9978 0.9998 0.9787 0.9257 0.9952 1 1 1 0.9997 0.9990 hom 4029.59 135 15 79614418 . A G 4029.59 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.85;VQSLOD=13.5749;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4029,343,0 15 79750307 79750307 T C exonic KIAA1024 synonymous SNV KIAA1024:NM_015206:exon2:c.T1818C:p.I606I 0.95 1. 0.95 0.98 0.92 0.91 0.9227 0.9812 0.9667 0.9676 0.9347 0.9024 0.9316 0.9081 0.92 0.98 0.89 0.96 0.95 rs1004724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9241 0.9828 0.9656 0.9471 0.9681 0.9351 0.8970 0.9274 0.9069 0.9335 0.9801 0.9606 0.9305 0.9760 0.9413 0.8992 0.9236 het 2031.20 158 15 79750307 . T C 2031.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.697;DP=158;Dels=0.00;FS=11.676;HRun=0;HaplotypeScore=1.7608;MQ=59.35;MQ0=0;MQRankSum=0.922;QD=12.86;ReadPosRankSum=0.791;VQSLOD=4.6413;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,83:158:99:2061,0,2145 15 80191343 80191343 G A exonic ST20 nonsynonymous SNV ST20:NM_001100879:exon3:c.C170T:p.P57L,ST20:NM_001100880:exon3:c.C170T:p.P57L,ST20:NM_001199757:exon3:c.C170T:p.P57L 0.42 0.33 0.4 0.31 0.52 0.56 0.5131 0.3454 0.4465 0.3136 0.5100 0.5685 0.4823 0.5488 0.49 0.35 0.56 0.38 0.51 rs7257 COSM3999612 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.352 0.122 T 0.008 0.135 B 0.002 0.063 B . . . 1.000 0.090 P . . . 0.72 0.510 T -1.15 0.295 N 0.058 0.065 -0.929 0.442 T 0.000 0.000 T . . . 2.167 0.321 17.29 0.939 0.233 0.015 0.049 N c -1.201 -1.275 1.000 0.747 0.706 0.609 0 -0.622 0.109 -0.732 0.050 -0.290 0.083 0.000 0.063 0.058 0.169 2.775 0.050 . ENSG00000136371.5|ENSG00000180953.7|ENSG00000136371.5|ENSG00000180953.7|ENSG00000136371.5|ENSG00000180953.7|ENSG00000136371.5|ENSG00000180953.7|ENSG00000180953.7|ENSG00000180953.7|ENSG00000180953.7|ENSG00000180953.7|ENSG00000180953.7|ENSG00000136371.5|ENSG00000261229.1|ENSG00000180953.7|ENSG00000180953.7|ENSG00000180953.7|ENSG00000180953.7|ENSG00000136371.5|ENSG00000136371.5|ENSG00000180953.7|ENSG00000136371.5|ENSG00000180953.7|ENSG00000136371.5|ENSG00000136371.5|ENSG00000180953.7|ENSG00000136371.5|ENSG00000180953.7|ENSG00000136371.5|ENSG00000180953.7|ENSG00000180953.7|ENSG00000180953.7|ENSG00000136371.5|ENSG00000180953.7|ENSG00000136371.5|ENSG00000180953.7|ENSG00000180953.7|ENSG00000180953.7|ENSG00000180953.7|ENSG00000136371.5|ENSG00000180953.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood|Whole_Blood 0.5102 0.3414 0.4535 0.4802 0.3186 0.5193 0.5712 0.4998 0.5467 0.4877 0.3368 0.4305 0.4603 0.3251 0.5246 0.5834 0.5561 hom 2981.94 100 15 80191343 . G A 2981.94 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.351;DP=100;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=7.9753;MQ=58.74;MQ0=0;MQRankSum=1.628;QD=29.82;ReadPosRankSum=1.351;VQSLOD=2.6512;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,99:100:99:3015,204,0 15 80260014 80260014 T C exonic BCL2A1 synonymous SNV BCL2A1:NM_001114735:exon2:c.A441G:p.T147T 0.39 0.4 0.29 0.53 0.26 0.44 0.3141 0.3756 0.3636 0.5445 0.2285 0.2517 0.2998 0.4084 0.29 0.37 0.26 0.35 . rs8026803 COSM3999614 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3106 0.3727 0.3482 0.2404 0.5514 0.2249 0.2528 0.2841 0.4031 0.2982 0.3714 0.3234 0.2417 0.5709 0.2300 0.2450 0.2515 het 399.57 53 15 80260014 . T C 399.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.254;DP=53;Dels=0.00;FS=2.533;HRun=0;HaplotypeScore=2.9834;MQ=56.69;MQ0=0;MQRankSum=-0.235;QD=7.54;ReadPosRankSum=-0.066;VQSLOD=3.2390;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,18:53:99:430,0,862 15 80263217 80263217 C T exonic BCL2A1 nonsynonymous SNV BCL2A1:NM_001114735:exon1:c.G245A:p.G82D,BCL2A1:NM_004049:exon1:c.G245A:p.G82D 0.2 0.07 0.16 0.21 0.25 0.36 0.2344 0.0938 0.1277 0.2402 0.2297 0.2490 0.2511 0.3368 0.2 0.092 0.25 0.12 0.17 rs3826007 COSM3999616;COSM3999615 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.036 0.512 D 1.0 0.899 D 1.0 0.971 D 0.212 0.034 N 0.000 0.548 P 3.08 0.875 M 0.58 0.542 T -6.05 0.924 D 0.308 0.373 -0.962 0.388 T 0.000 0.001 T . . . 5.558 0.756 26.4 0.998 0.879 0.860 0.449 D c 0.662 0.556 1.000 0.747 0.206 0.033 2 5.63 0.861 4.230 0.582 0.935 0.490 1.000 0.715 0.908 0.386 17.890 0.887 Apoptosis regulator\x2c Bcl-2\x2c BH1 motif\x2c conserved site . . 0.2313 0.0882 0.1360 0.2087 0.2388 0.2285 0.2531 0.2359 0.3318 0.1947 0.0890 0.1516 0.1833 0.2379 0.2302 0.2447 0.2133 het 3200.63 243 15 80263217 . C T 3200.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.052;DP=243;DS;Dels=0.00;FS=2.875;HRun=0;HaplotypeScore=1.3670;MQ=59.21;MQ0=0;MQRankSum=0.214;QD=13.17;ReadPosRankSum=0.997;VQSLOD=6.6443;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:116,127:243:99:3231,0,3211 15 80263345 80263345 A C exonic BCL2A1 nonsynonymous SNV BCL2A1:NM_001114735:exon1:c.T117G:p.N39K,BCL2A1:NM_004049:exon1:c.T117G:p.N39K 0.46 0.64 0.31 0.54 0.26 0.44 0.3366 0.5835 0.3761 0.5587 0.2302 0.2555 0.3084 0.4091 0.36 0.56 0.26 0.43 0.19 rs1138358 COSM3999617;COSM3999618 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.056 T 0.052 0.210 B 0.016 0.166 B 0.886 0.087 N 1 0.090 P 1.1 0.281 L 2.39 0.157 T 0.38 0.049 N 0.007 0.000 -0.920 0.456 T 0.000 0.000 T . . . -3.045 0.001 0.001 0.316 0.018 0.053 0.110 N c -2.106 -2.179 1.0 0.983 0.495 0.175 0 -10.2 0.003 -3.668 0.004 -2.777 0.002 0.000 0.063 0.000 0.016 1.529 0.024 . . . 0.3306 0.5940 0.3620 0.2419 0.5631 0.2286 0.2582 0.2964 0.4059 0.3614 0.5845 0.3377 0.2450 0.5788 0.2311 0.2484 0.2674 het 2782.88 192 15 80263345 . A C 2782.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.958;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8136;MQ=59.44;MQ0=0;MQRankSum=-1.203;QD=14.49;ReadPosRankSum=0.420;VQSLOD=6.1643;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,105:192:99:2813,0,2257 15 80263406 80263406 C T exonic BCL2A1 nonsynonymous SNV BCL2A1:NM_001114735:exon1:c.G56A:p.C19Y,BCL2A1:NM_004049:exon1:c.G56A:p.C19Y 0.35 0.26 0.28 0.54 0.26 0.44 0.3033 0.2571 0.3519 0.5576 0.2303 0.2509 0.2852 0.4076 0.25 0.24 0.26 0.28 0.18 rs1138357 COSM3999619;COSM3999620 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.738 0.037 T 0.0 0.026 B 0.0 0.013 B 0.835 0.070 N 1 0.090 P -2.125 0.001 N 2.33 0.165 T 2.68 0.002 N 0.03 0.011 -0.919 0.457 T 0.000 0.000 T . . . -0.793 0.040 0.044 0.664 0.078 0.011 0.039 N c -1.685 -1.543 1.000 0.747 0.495 0.175 0 1.93 0.249 1.380 0.337 -0.241 0.092 0.012 0.185 0.000 0.016 4.114 0.095 . . . 0.3031 0.2535 0.3395 0.2246 0.5630 0.2285 0.2543 0.2721 0.4043 0.2655 0.2548 0.3043 0.1987 0.5772 0.2308 0.2464 0.2480 het 1544.16 108 15 80263406 . C T 1544.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.142;DP=108;Dels=0.00;FS=3.737;HRun=0;HaplotypeScore=9.5864;MQ=59.10;MQ0=0;MQRankSum=0.332;QD=14.30;ReadPosRankSum=-0.640;VQSLOD=4.4018;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,57:108:99:1574,0,1480 15 80855492 80855492 T A exonic ARNT2 nonsynonymous SNV ARNT2:NM_014862:exon12:c.T1228A:p.W410R . . . . . . 0.0002 9.61e-05 0 0 0.0005 0.0004 0.0011 0 0.0002 0.0002 0.0002 . . rs150964641 . . . . . . . . . . . . . 0.0 0.912 D 0.997 0.689 D 0.967 0.699 D 0.000 0.843 D 1 0.810 D 3.255 0.901 M 2.26 0.176 T -11.8 0.996 D 0.947 0.996 -0.845 0.523 T 0.130 0.440 T 0.043 0.609 D 6.293 0.869 29.1 0.996 0.758 0.921 0.547 D c 0.736 0.658 1.000 0.747 0.706 0.609 0 4.26 0.497 7.648 0.825 1.061 0.807 1.000 0.715 1.000 0.888 13.566 0.611 PAS domain . . 0.0002 6.534e-05 0 0.0020 0 0.0003 0.0003 0 0 0.0003 0 0 0 0 0.0003 0.0005 0 het 3963.56 224 15 80855492 . T A 3963.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.622;DP=224;DS;Dels=0.00;FS=3.236;HRun=0;HaplotypeScore=5.1080;MQ=59.15;MQ0=0;MQRankSum=0.558;QD=17.69;ReadPosRankSum=-0.225;VQSLOD=3.0957;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:109,115:224:99:3340,0,3006 15 81212608 81212608 G A exonic CEMIP synonymous SNV CEMIP:NM_018689:exon14:c.G1971A:p.P657P,CEMIP:NM_001293298:exon15:c.G1971A:p.P657P,CEMIP:NM_001293304:exon15:c.G1971A:p.P657P 0.99 0.96 0.99 1. 1. 1. 0.9961 0.9645 0.9966 1 1 0.9993 0.9967 0.9991 0.99 0.97 1. 0.99 1. rs1553647 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9627 0.9974 0.9971 0.9999 1 0.9994 0.9969 0.9992 0.9907 0.9684 0.9976 0.9967 0.9994 1 0.9996 0.9980 hom 4900.76 155 15 81212608 . G A 4900.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.620;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0265;MQ=59.82;MQ0=0;MQRankSum=-0.157;QD=31.62;ReadPosRankSum=1.282;VQSLOD=7.0777;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,154:155:99:4872,351,0 15 81600995 81600995 A G exonic IL16 synonymous SNV IL16:NM_004513:exon7:c.A1752G:p.L584L,IL16:NM_172217:exon18:c.A3855G:p.L1285L,IL16:NM_001172128:exon19:c.A3852G:p.L1284L 0.99 1. 0.99 0.97 1. 1. 0.9966 0.9989 0.9901 0.9689 1 0.9999 1 0.9991 1. 1. 1. 0.98 1. rs4238526 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9990 0.9901 1 0.9702 1 0.9999 0.9971 0.9991 0.9974 0.9983 0.9845 1 0.9673 1 0.9999 1 hom 7364.29 234 15 81600995 . A G 7364.29 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.614;DP=234;Dels=0.00;FS=3.048;HRun=0;HaplotypeScore=5.5640;MQ=59.00;MQ0=0;MQRankSum=1.614;QD=31.47;ReadPosRankSum=1.702;VQSLOD=3.3847;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,233:234:99:7334,533,0 15 81624768 81624768 C T exonic TMC3 nonsynonymous SNV TMC3:NM_001080532:exon22:c.G3295A:p.D1099N 0.75 0.89 0.71 0.72 0.85 0.52 0.7968 0.8838 0.5808 0.7104 0.8428 0.8679 0.8107 0.6196 0.87 0.89 0.86 0.77 . rs4417518 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.369 N 1 0.090 P -2.455 0.001 N 0.55 0.555 T 0.98 0.015 N 0.016 0.003 -0.980 0.350 T 0.000 0.000 T . . . 0.386 0.131 6.488 0.492 0.041 0.025 0.069 N c -1.332 -1.202 1.000 0.473 0.615 0.372 0 0.3 0.150 1.590 0.360 -0.208 0.100 1.000 0.715 0.104 0.190 5.739 0.172 . . . 0.7805 0.8858 0.6040 0.8444 0.7092 0.8356 0.8681 0.8073 0.5872 0.8515 0.8864 0.6627 0.8278 0.6884 0.8322 0.8664 0.8184 hom 458.68 15 15 81624768 . C T 458.68 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.36;MQ0=1;QD=30.58;VQSLOD=8.4800;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:492,39,0 15 81625385 81625385 C T exonic TMC3 nonsynonymous SNV TMC3:NM_001080532:exon22:c.G2678A:p.C893Y 0.47 0.23 0.6 0.48 0.76 0.41 0.6456 0.2812 0.5059 0.4443 0.7682 0.7760 0.6626 0.4878 0.62 0.31 0.77 0.42 . rs11636318 COSM5941381 1(skin) . . . . . . . . . . . 0.013 0.546 D 0.0 0.026 B 0.0 0.013 B 0.722 0.099 U 1 0.090 P -0.69 0.019 N -0.01 0.628 T 0.06 0.063 N 0.041 0.065 -0.943 0.421 T 0.000 0.000 T . . . -0.295 0.069 0.683 0.494 0.041 0.017 0.054 N c -1.383 -1.373 1.000 0.415 0.554 0.283 0 -1.28 0.088 0.767 0.261 -0.412 0.061 0.061 0.216 0.001 0.043 10.804 0.455 . ENSG00000188869.8 Thyroid 0.6473 0.2745 0.5301 0.7177 0.4405 0.7630 0.7779 0.6838 0.4892 0.6151 0.2991 0.5680 0.7181 0.4164 0.7546 0.7830 0.6994 hom 4891.67 148 15 81625385 . C T 4891.67 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.59;MQ0=0;QD=33.05;VQSLOD=10.0597;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4891,394,0 15 81636267 81636267 C T exonic TMC3 synonymous SNV TMC3:NM_001080532:exon14:c.G1638A:p.E546E 0.75 0.9 0.71 0.72 0.85 0.52 0.7866 0.8892 0.5811 0.7063 0.8355 0.8621 0.8043 0.5850 0.87 0.89 0.86 0.77 . rs7161991 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7800 0.8908 0.6064 0.8473 0.7062 0.8320 0.8642 0.8066 0.5866 0.8507 0.8899 0.6599 0.83 0.6951 0.8307 0.8630 0.8133 hom 1418.86 48 15 81636267 . C T 1418.86 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;QD=29.56;VQSLOD=8.7164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1452,111,0 15 81637284 81637284 G A exonic TMC3 synonymous SNV TMC3:NM_001080532:exon13:c.C1341T:p.A447A 0.46 0.25 0.6 0.45 0.74 0.4 0.6578 0.3309 0.5473 0.4470 0.7621 0.7716 0.6713 0.5 0.62 0.33 0.76 0.41 . rs4278705 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6379 0.2963 0.5326 0.7188 0.4084 0.7498 0.7643 0.6727 0.4757 0.6088 0.3165 0.5695 0.7033 0.3933 0.7367 0.7674 0.6796 hom 1141.44 35 15 81637284 . G A 1141.44 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.61;VQSLOD=13.7946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:90.29:1174,90,0 15 82444437 82444437 A G exonic EFL1 synonymous SNV EFL1:NM_001040610:exon16:c.T2205C:p.G735G,EFL1:NM_001322844:exon17:c.T1569C:p.G523G,EFL1:NM_001322845:exon18:c.T2358C:p.G786G,EFL1:NM_024580:exon18:c.T2358C:p.G786G 0.79 0.87 0.85 0.84 0.76 0.59 0.7775 0.8557 0.8980 0.8102 0.7812 0.7829 0.7522 0.6084 0.81 0.85 0.79 0.81 0.74 rs905450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7794 0.8573 0.8877 0.7082 0.8130 0.7752 0.7854 0.7706 0.6094 0.8179 0.8544 0.8735 0.7384 0.8393 0.7973 0.7993 0.7924 het 1291.61 100 15 82444437 . A G 1291.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.941;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8614;MQ=59.33;MQ0=0;MQRankSum=1.066;QD=12.92;ReadPosRankSum=-1.135;VQSLOD=6.4836;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,56:100:99:1322,0,1124 15 82555242 82555242 A G exonic SAXO2 nonsynonymous SNV SAXO2:NM_001008226:exon1:c.A22G:p.S8G,SAXO2:NM_001348699:exon1:c.A22G:p.S8G,SAXO2:NM_001348706:exon1:c.A22G:p.S8G 0.21 0.14 0.13 0.16 0.2 0.41 0.2836 0.2073 0.1777 0.3016 0.3995 0.2473 0.3238 0.4344 0.16 0.14 0.17 0.17 0.09 rs11631813 COSM4999396 3(pancreas) . . . . . . . . . . . 0.066 0.361 T 0.042 0.201 B 0.029 0.203 B 0.756 0.097 U 1.000 0.588 P 1.39 0.351 L -0.22 0.665 T -4.0 0.740 D 0.042 0.024 -0.962 0.388 T 0.000 0.000 T . . . 1.003 0.190 10.68 0.811 0.131 0.198 0.206 N c -0.867 -0.765 1.000 0.747 0.025 0.001 3 1.95 0.250 1.893 0.392 0.124 0.212 0.916 0.316 0.333 0.243 8.206 0.304 . ENSG00000188659.5|ENSG00000184779.8|ENSG00000259785.1|ENSG00000259785.1|ENSG00000259785.1|ENSG00000259785.1|ENSG00000259785.1|ENSG00000140598.9|ENSG00000188659.5|ENSG00000215749.8|ENSG00000259310.1|ENSG00000259328.1|ENSG00000214575.5|ENSG00000188659.5|ENSG00000259785.1|ENSG00000188659.5|ENSG00000188659.5|ENSG00000188659.5|ENSG00000184779.8|ENSG00000188659.5|ENSG00000259328.1|ENSG00000259328.1|ENSG00000255769.3|ENSG00000188659.5|ENSG00000259785.1|ENSG00000259387.2|ENSG00000188659.5 Adipose_Subcutaneous|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid 0.1948 0.1454 0.0884 0.2087 0.1850 0.2604 0.1690 0.2009 0.3819 0.1712 0.1474 0.0990 0.1722 0.1609 0.2460 0.1694 0.2224 het 102.20 13 15 82555242 . A G 102.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.424;DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56.35;MQ0=0;MQRankSum=0.660;QD=7.86;ReadPosRankSum=0.312;VQSLOD=5.2508;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:132,0,196 15 82563991 82563991 C T exonic SAXO2 nonsynonymous SNV SAXO2:NM_001008226:exon2:c.C101T:p.P34L,SAXO2:NM_001348699:exon3:c.C281T:p.P94L,SAXO2:NM_001348700:exon3:c.C140T:p.P47L,SAXO2:NM_001348702:exon3:c.C56T:p.P19L,SAXO2:NM_001348703:exon3:c.C56T:p.P19L,SAXO2:NM_001348701:exon4:c.C140T:p.P47L 0.37 0.32 0.32 0.2 0.55 0.49 0.4470 0.3461 0.2228 0.2147 0.4817 0.5149 0.4736 0.4992 0.46 0.36 0.52 0.37 0.57 rs16973457 COSM4999237 2(pancreas) . . . . . . . . . . . 0.091 0.318 T 0.936 0.504 P 0.704 0.525 P 0.006 0.321 N 0.024 0.393 P 2.85 0.831 M 2.01 0.213 T -5.41 0.896 D 0.091 0.332 -0.907 0.473 T 0.000 0.000 T . . . 5.969 0.820 27.7 0.996 0.753 0.746 0.362 D c 0.435 0.436 0.564 0.214 0.554 0.246 0 3.93 0.445 2.917 0.483 0.890 0.394 1.000 0.715 0.782 0.331 7.259 0.252 . ENSG00000188659.5|ENSG00000196648.6|ENSG00000188659.5|ENSG00000196648.6|ENSG00000259785.1|ENSG00000188659.5|ENSG00000259785.1|ENSG00000188659.5|ENSG00000259785.1|ENSG00000188659.5|ENSG00000259785.1|ENSG00000259785.1|ENSG00000259785.1|ENSG00000259785.1|ENSG00000188659.5|ENSG00000259310.1|ENSG00000188659.5|ENSG00000188659.5|ENSG00000186322.9|ENSG00000259429.1|ENSG00000205281.6|ENSG00000188659.5|ENSG00000259429.1|ENSG00000188659.5|ENSG00000188659.5|ENSG00000186322.9|ENSG00000188659.5|ENSG00000188659.5|ENSG00000196648.6|ENSG00000225273.3|ENSG00000259310.1|ENSG00000188659.5|ENSG00000188659.5|ENSG00000188659.5|ENSG00000188659.5|ENSG00000196648.6|ENSG00000259429.1|ENSG00000186322.9|ENSG00000259785.1|ENSG00000259243.1|ENSG00000259387.2|ENSG00000188659.5|ENSG00000186322.9|ENSG00000259785.1|ENSG00000103723.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4401 0.3434 0.2332 0.6078 0.2127 0.4866 0.5094 0.4643 0.4982 0.4394 0.3511 0.2943 0.6159 0.1910 0.4714 0.5111 0.4908 het 808.19 73 15 82563991 . C T 808.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.087;DP=73;Dels=0.00;FS=0.936;HRun=0;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;MQRankSum=-0.028;QD=11.07;ReadPosRankSum=1.003;VQSLOD=6.0405;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,33:73:99:838,0,958 15 82574879 82574879 T C exonic SAXO2 nonsynonymous SNV SAXO2:NM_001348704:exon2:c.T448C:p.W150R,SAXO2:NM_001008226:exon3:c.T673C:p.W225R,SAXO2:NM_001348699:exon4:c.T853C:p.W285R,SAXO2:NM_001348700:exon4:c.T712C:p.W238R,SAXO2:NM_001348702:exon4:c.T628C:p.W210R,SAXO2:NM_001348703:exon4:c.T628C:p.W210R,SAXO2:NM_001348701:exon5:c.T712C:p.W238R 0.23 0.15 0.17 0.16 0.29 0.42 0.2535 0.1616 0.1166 0.1902 0.3100 0.2577 0.2808 0.3996 0.23 0.17 0.26 0.21 0.28 rs11630197 COSM3754505 1(skin);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.998 0.875 D 0.000 0.629 D 0.000 0.506 P 3.07 0.873 M 2.16 0.192 T -12.83 0.998 D 0.158 0.584 -1.009 0.272 T 0.000 0.000 T . . . 5.715 0.780 26.8 0.995 0.704 0.900 0.506 D c 0.549 0.448 1.000 0.747 0.598 0.340 0 3.9 0.441 6.253 0.722 0.908 0.420 1.000 0.715 0.999 0.750 13.153 0.587 . ENSG00000188659.5|ENSG00000188659.5|ENSG00000196648.6|ENSG00000184779.8|ENSG00000184779.8|ENSG00000259785.1|ENSG00000188659.5|ENSG00000259785.1|ENSG00000188659.5|ENSG00000259785.1|ENSG00000259785.1|ENSG00000259785.1|ENSG00000259785.1|ENSG00000188659.5|ENSG00000196648.6|ENSG00000259310.1|ENSG00000184779.8|ENSG00000188659.5|ENSG00000215749.8|ENSG00000259328.1|ENSG00000196648.6|ENSG00000259310.1|ENSG00000255769.3|ENSG00000205281.6|ENSG00000188659.5|ENSG00000259328.1|ENSG00000184779.8|ENSG00000214575.5|ENSG00000259785.1|ENSG00000188659.5|ENSG00000184779.8|ENSG00000188659.5|ENSG00000259328.1|ENSG00000259310.1|ENSG00000255769.3|ENSG00000188659.5|ENSG00000184779.8|ENSG00000214575.5|ENSG00000188659.5|ENSG00000184779.8|ENSG00000255769.3|ENSG00000259328.1|ENSG00000188659.5|ENSG00000215749.8|ENSG00000255769.3|ENSG00000255769.3|ENSG00000259328.1|ENSG00000188659.5|ENSG00000259328.1|ENSG00000259310.1|ENSG00000184779.8|ENSG00000255769.3|ENSG00000259785.1|ENSG00000259310.1|ENSG00000255769.3|ENSG00000259328.1|ENSG00000259785.1|ENSG00000259310.1|ENSG00000259243.1|ENSG00000259387.2|ENSG00000188659.5|ENSG00000259328.1|ENSG00000259310.1|ENSG00000184779.8|ENSG00000255769.3|ENSG00000214575.5 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid 0.2529 0.1608 0.1260 0.3054 0.1876 0.3118 0.2563 0.2725 0.3985 0.2225 0.1631 0.1480 0.2649 0.1605 0.2877 0.2481 0.2821 het 1295.25 102 15 82574879 . T C 1295.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.824;DP=102;Dels=0.00;FS=3.898;HRun=0;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;MQRankSum=-0.224;QD=12.70;ReadPosRankSum=-1.275;VQSLOD=5.8416;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,50:102:99:1325,0,1394 15 83215251 83215251 T C exonic CPEB1 synonymous SNV CPEB1:NM_001079535:exon9:c.A1290G:p.L430L,CPEB1:NM_001288820:exon9:c.A837G:p.L279L,CPEB1:NM_001079533:exon10:c.A1305G:p.L435L,CPEB1:NM_001079534:exon10:c.A1290G:p.L430L,CPEB1:NM_001288819:exon11:c.A1290G:p.L430L,CPEB1:NM_030594:exon11:c.A1515G:p.L505L 0.44 0.44 0.39 0.47 0.42 0.48 0.3991 0.4280 0.3214 0.4777 0.4376 0.3745 0.4275 0.4784 0.39 0.41 0.37 0.38 0.28 rs1267657 COSM3754506;COSM3754507 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3995 0.4271 0.3334 0.3863 0.4791 0.4373 0.3756 0.4087 0.4754 0.3956 0.4252 0.3477 0.3576 0.4496 0.4262 0.3680 0.4080 hom 5724.54 166 15 83215251 . T C 5724.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.522;DP=166;DS;Dels=0.00;FS=6.351;HRun=1;HaplotypeScore=4.7006;MQ=59.61;MQ0=0;MQRankSum=1.649;QD=34.49;ReadPosRankSum=-0.876;VQSLOD=4.4198;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,165:166:99:5685,403,0 15 83224696 83224696 C T exonic CPEB1 synonymous SNV CPEB1:NM_001079535:exon3:c.G558A:p.P186P,CPEB1:NM_001288820:exon3:c.G105A:p.P35P,CPEB1:NM_001079533:exon4:c.G558A:p.P186P,CPEB1:NM_001079534:exon4:c.G558A:p.P186P,CPEB1:NM_001288819:exon5:c.G558A:p.P186P,CPEB1:NM_030594:exon5:c.G783A:p.P261P 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.97 rs1145171 COSM4594930;COSM4594931 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 1 0.9999 0.9997 1 1 1 1 1 1 hom 3135.54 98 15 83224696 . C T 3135.54 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.00;VQSLOD=13.5226;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3169,253,0 15 83495214 83495214 T A exonic WHAMM nonsynonymous SNV WHAMM:NM_001080435:exon7:c.T1511A:p.I504K 0.0054 . 0.014 . 0.016 0.001 0.0185 0.0031 0.0133 0.0001 0.0438 0.0251 0.0301 0.0039 0.019 0.0039 0.026 . . rs113378787 . . . . . . . . . . . . . 0.923 0.023 T 0.418 0.335 B 0.083 0.277 B 0.166 0.031 N 1 0.090 N 1.23 0.308 L 3.25 0.068 T -0.88 0.238 N 0.122 0.137 -1.018 0.245 T 0.005 0.017 T . . . 0.569 0.148 7.937 0.559 0.053 0.070 0.128 N c -0.875 -0.897 0.115 0.167 0.672 0.522 0 -1.03 0.095 -0.497 0.065 1.056 0.757 0.000 0.063 0.026 0.142 2.313 0.039 . . . 0.0192 0.0028 0.0125 0.0551 5.798e-05 0.0472 0.0215 0.0281 0.0035 0.0183 0.0022 0.0119 0.0430 0 0.0518 0.0217 0.0193 het 3143.07 249 15 83495214 . T A 3143.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.704;DP=249;DS;Dels=0.00;FS=1.545;HRun=2;HaplotypeScore=1.9134;MQ=58.50;MQ0=0;MQRankSum=0.914;QD=12.62;ReadPosRankSum=-1.055;VQSLOD=5.7569;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,128:249:99:3173,0,3149 15 83680287 83680287 A G exonic C15orf40 nonsynonymous SNV C15orf40:NM_001160113:exon1:c.T73C:p.C25R,C15orf40:NM_001160114:exon1:c.T73C:p.C25R,C15orf40:NM_001160115:exon1:c.T73C:p.C25R,C15orf40:NM_001160116:exon1:c.T73C:p.C25R,C15orf40:NM_144597:exon1:c.T73C:p.C25R 0.62 0.71 0.75 0.69 0.62 0.35 0.6181 0.7032 0.7255 0.6622 0.6310 0.6396 0.6044 0.3791 0.65 0.7 0.63 0.72 0.58 rs4842860 COSM3754516 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.159 0.316 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.208 P -0.345 0.033 N 0.04 0.621 T -0.31 0.620 N 0.168 0.498 -0.995 0.314 T 0.000 0.000 T . . . -0.876 0.037 0.029 0.514 0.045 0.005 0.023 N c -1.786 -1.848 1.000 0.747 0.442 0.072 0 -1.95 0.071 0.296 0.187 -1.566 0.009 0.001 0.137 0.002 0.062 3.599 0.075 . ENSG00000169609.9|ENSG00000169609.9|ENSG00000169609.9|ENSG00000169609.9|ENSG00000064726.5|ENSG00000169609.9|ENSG00000064726.5|ENSG00000259328.1|ENSG00000169609.9|ENSG00000259328.1|ENSG00000169609.9|ENSG00000169609.9|ENSG00000169609.9 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.6194 0.7036 0.7183 0.7573 0.6602 0.6219 0.6265 0.6550 0.3733 0.6528 0.7027 0.7112 0.7682 0.6679 0.6347 0.6233 0.6143 het 522.91 52 15 83680287 . A G 522.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.795;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6208;MQ=59.16;MQ0=0;MQRankSum=-0.483;QD=10.06;ReadPosRankSum=0.805;VQSLOD=6.4476;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,23:52:99:553,0,830 15 83781598 83781598 C T exonic TM6SF1 synonymous SNV TM6SF1:NM_001144903:exon2:c.C142T:p.L48L,TM6SF1:NM_001330385:exon2:c.C142T:p.L48L,TM6SF1:NM_023003:exon2:c.C142T:p.L48L 0.023 0.0008 0.042 . 0.062 0.025 0.0456 0.0099 0.0246 0.0003 0.0714 0.0641 0.0529 0.0211 0.0003 . 0.0005 . 0.082 rs80329914 COSM5828290;COSM3754518 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0462 0.0086 0.0261 0.0279 0.0005 0.0763 0.0665 0.0558 0.0212 0.0503 0.0116 0.0370 0.0232 0 0.0876 0.0702 0.0602 het 2252.74 189 15 83781598 . C T 2252.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.196;DP=189;Dels=0.00;FS=1.122;HRun=1;HaplotypeScore=3.8066;MQ=59.46;MQ0=0;MQRankSum=-1.560;QD=11.92;ReadPosRankSum=-0.547;VQSLOD=5.1370;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:95,94:189:99:2283,0,2511 15 83781599 83781599 T G exonic TM6SF1 nonsynonymous SNV TM6SF1:NM_001144903:exon2:c.T143G:p.L48R,TM6SF1:NM_001330385:exon2:c.T143G:p.L48R,TM6SF1:NM_023003:exon2:c.T143G:p.L48R 0.023 0.0008 0.042 . 0.062 0.025 0.0456 0.0099 0.0246 0.0003 0.0714 0.0640 0.0529 0.0211 . . . . 0.082 rs79470022 COSM3754519;COSM5828291 3(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 0.971 0.609 D 0.691 0.565 P 0.008 0.311 N 1.000 0.498 D 2.11 0.588 M 0.46 0.563 T -4.03 0.750 D 0.796 0.828 -0.828 0.535 T 0.061 0.254 T . . . 5.974 0.821 27.7 0.997 0.806 0.923 0.550 D c 0.621 0.627 1.0 0.983 0.732 0.924 0 5.6 0.849 6.361 0.728 1.061 0.807 1.000 0.715 0.867 0.362 14.762 0.691 . ENSG00000103723.8|ENSG00000103723.8 Adipose_Subcutaneous|Lung 0.0462 0.0086 0.0262 0.0279 0.0005 0.0763 0.0665 0.0560 0.0212 0.0503 0.0116 0.0370 0.0232 0 0.0876 0.0702 0.0603 het 2332.70 190 15 83781599 . T G 2332.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.342;DP=190;Dels=0.00;FS=1.122;HRun=1;HaplotypeScore=3.8066;MQ=59.46;MQ0=0;MQRankSum=-1.495;QD=12.28;ReadPosRankSum=-0.437;VQSLOD=5.2272;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,94:190:99:2363,0,2550 15 84539619 84539619 C G exonic ADAMTSL3 nonsynonymous SNV ADAMTSL3:NM_001301110:exon9:c.C868G:p.L290V,ADAMTSL3:NM_207517:exon9:c.C868G:p.L290V 0.81 0.96 0.91 0.72 0.78 0.64 0.8061 0.9387 0.9278 0.7446 0.8096 0.8036 0.7974 0.6791 0.85 0.94 0.8 0.88 0.78 rs4144691 . . . . . . . . . . . . . 0.953 0.022 T 0.0 0.026 B 0.001 0.040 B 0.830 0.069 N 1 0.090 P -0.665 0.020 N -0.06 0.643 T 0.47 0.031 N 0.037 0.017 -0.961 0.391 T 0.000 0.000 T . . . -2.024 0.008 0.001 0.053 0.000 0.008 0.033 N c -1.213 -1.119 0.006 0.111 0.554 0.246 0 1.68 0.231 1.068 0.300 -0.289 0.083 0.998 0.411 0.001 0.043 5.542 0.162 . . . 0.8082 0.9397 0.9182 0.8443 0.7477 0.8143 0.7984 0.8143 0.6761 0.8398 0.9410 0.9153 0.8510 0.7540 0.8130 0.7935 0.8167 hom 2622.86 83 15 84539619 . C G 2622.86 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=31.60;VQSLOD=9.8389;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2656,202,0 15 84611367 84611367 G C exonic ADAMTSL3 nonsynonymous SNV ADAMTSL3:NM_001301110:exon18:c.G2137C:p.G713R,ADAMTSL3:NM_207517:exon18:c.G2137C:p.G713R 0.054 0.0076 0.088 0.001 0.17 0.031 0.1230 0.0277 0.0581 0.0007 0.2284 0.1738 0.1405 0.0431 0.12 0.036 0.16 0.033 0.11 rs34047645 COSM5019083 11(soft_tissue) . . . . . . . . . . . 0.247 0.180 T 0.002 0.188 B 0.011 0.233 B 0.052 0.020 N 0.004 0.432 P 0.475 0.132 N 0.6 0.537 T -0.75 0.210 N 0.233 0.285 -1.086 0.063 T 0.000 0.001 T . . . 1.731 0.269 14.58 0.980 0.372 0.800 0.395 D c -0.274 -0.103 0.267 0.189 0.554 0.246 0 3.61 0.403 4.197 0.580 1.048 0.713 1.000 0.715 0.797 0.335 4.223 0.099 . ENSG00000184206.7|ENSG00000259511.1|ENSG00000259726.1|ENSG00000184206.7|ENSG00000184206.7 Muscle_Skeletal|Thyroid|Thyroid|Thyroid|Whole_Blood 0.1223 0.0240 0.0639 0.1255 0.0007 0.2329 0.1712 0.1521 0.0412 0.1332 0.0290 0.0778 0.1490 0.0006 0.2398 0.1840 0.1667 het 1932 143 15 84611367 . G C 1932 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.226;DP=143;Dels=0.00;FS=0.644;HRun=0;HaplotypeScore=1.7878;MQ=58.55;MQ0=0;MQRankSum=2.882;QD=13.51;ReadPosRankSum=0.269;VQSLOD=4.3163;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,76:143:99:1962,0,1708 15 84639350 84639350 C T exonic ADAMTSL3 nonsynonymous SNV ADAMTSL3:NM_001301110:exon20:c.C2605T:p.L869F,ADAMTSL3:NM_207517:exon20:c.C2605T:p.L869F 0.26 0.37 0.16 0.34 0.27 0.086 0.2460 0.3485 0.1219 0.3277 0.3450 0.2656 0.2621 0.1058 0.29 0.35 0.26 0.26 0.25 rs2277849 COSM147962 1(stomach);1(haematopoietic_and_lymphoid_tissue);11(soft_tissue);4(prostate) . . . . . . . . . . . 0.077 0.341 T 0.606 0.428 P 0.435 0.458 B 0.677 0.103 N 1 0.090 P 2.835 0.828 M 0.04 0.621 T -0.62 0.191 N 0.029 0.010 -1.037 0.183 T 0.000 0.000 T . . . 3.819 0.516 23.4 0.997 0.801 0.102 0.156 N c -0.149 -0.218 0.000 0.057 0.554 0.283 0 2.38 0.283 0.811 0.267 0.932 0.445 0.603 0.275 0.961 0.442 8.073 0.297 . ENSG00000225151.6|ENSG00000259511.1|ENSG00000259726.1 Cells_Transformed_fibroblasts|Thyroid|Thyroid 0.2414 0.3493 0.1241 0.2435 0.3326 0.3477 0.2638 0.2504 0.1041 0.3086 0.3511 0.1555 0.2633 0.3228 0.3620 0.2795 0.3082 het 3009.85 220 15 84639350 . C T 3009.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.866;DP=220;DS;Dels=0.00;FS=5.738;HRun=1;HaplotypeScore=3.4868;MQ=59.42;MQ0=0;MQRankSum=0.864;QD=13.68;ReadPosRankSum=0.371;VQSLOD=5.3217;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:104,116:220:99:3040,0,2655 15 84651290 84651290 T C exonic ADAMTSL3 synonymous SNV ADAMTSL3:NM_001301110:exon21:c.T2910C:p.H970H,ADAMTSL3:NM_207517:exon21:c.T2910C:p.H970H 0.87 0.97 0.87 0.95 0.78 0.73 0.8144 0.9422 0.8988 0.9388 0.8161 0.7760 0.7952 0.7647 0.83 0.94 0.78 0.9 0.77 rs7176737 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8187 0.9468 0.8950 0.8070 0.9374 0.8195 0.7762 0.8 0.7656 0.8459 0.9431 0.8807 0.8221 0.9445 0.8129 0.7868 0.8136 hom 4662.35 150 15 84651290 . T C 4662.35 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3305;MQ=58.44;MQ0=0;QD=31.08;VQSLOD=6.7223;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,148:150:99:4661,394,0 15 85149771 85149771 G T exonic ZSCAN2 nonsynonymous SNV ZSCAN2:NM_017894:exon3:c.G418T:p.V140F 0.91 0.99 0.9 0.95 0.85 0.81 0.8733 0.9694 0.9312 0.9421 0.8373 0.8547 0.8645 0.8260 0.9 0.97 0.86 0.94 0.84 rs2271433 COSM4128494 1(thyroid) . . . . . . . . . . . 0.337 0.128 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 3.34 0.061 T -0.68 0.195 N 0.05 0.031 -1.084 0.066 T 0.000 0.000 T . . . -0.005 0.093 2.539 0.580 0.057 0.006 0.026 N c -1.202 -1.329 1.000 0.458 0.490 0.173 0 0.865 0.181 -0.397 0.073 -0.132 0.111 0.001 0.137 0.002 0.062 3.681 0.078 SCAN domain ENSG00000177082.8|ENSG00000230373.4|ENSG00000184206.7|ENSG00000230373.4|ENSG00000177082.8|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000230373.4|ENSG00000177082.8|ENSG00000230373.4|ENSG00000225151.6|ENSG00000240466.2|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000176700.15|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000177082.8|ENSG00000230373.4|ENSG00000177082.8|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000176700.15|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000177082.8|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000230373.4|ENSG00000230373.4|ENSG00000177082.8|ENSG00000177082.8|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000176700.15|ENSG00000259511.1|ENSG00000177082.8|ENSG00000176700.15|ENSG00000184206.7|ENSG00000177082.8|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid 0.8769 0.9724 0.9318 0.8971 0.9427 0.8430 0.8552 0.8717 0.8304 0.8940 0.9694 0.9224 0.8974 0.9396 0.8337 0.8605 0.8493 hom 2252.41 70 15 85149771 . G T 2252.41 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;QD=32.18;VQSLOD=9.5696;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2285,178,0 15 85163998 85163998 G C exonic ZSCAN2 nonsynonymous SNV ZSCAN2:NM_181877:exon3:c.G572C:p.S191T 0.88 0.95 0.88 0.95 0.82 0.79 0.8486 0.9365 0.9182 0.9435 0.7954 0.8274 0.8370 0.8024 0.87 0.94 0.83 0.89 0.75 rs2044502 . . . . . . . . . . . . . 0.749 0.068 T 0.0 0.026 B 0.0 0.013 B 0.924 0.075 N 1 0.090 P 0 0.065 N 3.28 0.065 T 0.06 0.146 N 0.025 0.067 -1.050 0.142 T 0.000 0.000 T . . . -2.893 0.001 0.001 0.198 0.007 0.000 0.003 N c -1.466 -1.429 0.866 0.253 0.707 0.730 0 1.64 0.228 0.282 0.184 -1.035 0.021 0.000 0.063 0.000 0.016 0.959 0.013 . ENSG00000177082.8|ENSG00000230373.4|ENSG00000184206.7|ENSG00000230373.4|ENSG00000177082.8|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000230373.4|ENSG00000177082.8|ENSG00000230373.4|ENSG00000240466.2|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000176700.15|ENSG00000176700.15|ENSG00000177082.8|ENSG00000177082.8|ENSG00000230373.4|ENSG00000177082.8|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000176700.15|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000177082.8|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000230373.4|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000177082.8|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000230373.4|ENSG00000184206.7|ENSG00000230373.4|ENSG00000177082.8|ENSG00000177082.8|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7|ENSG00000176700.15|ENSG00000259511.1|ENSG00000177082.8|ENSG00000184206.7|ENSG00000177082.8|ENSG00000230373.4|ENSG00000176700.15|ENSG00000184206.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid 0.8519 0.9388 0.9185 0.8514 0.9431 0.8033 0.8288 0.8410 0.8059 0.8644 0.9368 0.9081 0.8576 0.9408 0.7910 0.8314 0.8238 hom 3562.15 111 15 85163998 . G C 3562.15 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.4993;MQ=59.62;MQ0=0;QD=32.09;VQSLOD=8.7713;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3562,283,0 15 85188994 85188994 T C exonic WDR73 synonymous SNV WDR73:NM_032856:exon7:c.A591G:p.S197S 0.9 0.99 0.89 0.95 0.82 0.79 0.8550 0.9665 0.9254 0.9453 0.7983 0.8316 0.8484 0.8099 0.88 0.97 0.84 0.91 . rs2271432 COSM4128496 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8570 0.9703 0.9247 0.8717 0.9442 0.8027 0.8306 0.8494 0.8095 0.8747 0.9672 0.9117 0.8874 0.9407 0.7903 0.8342 0.8259 hom 1271.30 40 15 85188994 . T C 1271.30 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=31.78;VQSLOD=9.0869;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1304,105,0 15 85333953 85333953 A G exonic ZNF592 synonymous SNV ZNF592:NM_014630:exon5:c.A2238G:p.Q746Q 0.78 0.8 0.72 0.94 0.72 0.72 0.7501 0.8025 0.7042 0.9321 0.7106 0.7352 0.7302 0.7311 0.75 0.79 0.73 0.81 0.67 rs2241645 COSM4128497 1(thyroid) Likely benign not_specified RCV000118955.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7475 0.8039 0.7077 0.7429 0.9321 0.7075 0.7361 0.7475 0.7309 0.7650 0.8038 0.7148 0.7517 0.9281 0.6999 0.7453 0.7301 hom 5761.54 185 15 85333953 . A G 5761.54 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2923;MQ=59.65;MQ0=0;QD=31.14;VQSLOD=8.8512;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5761,442,0 15 85360101 85360101 T C exonic ALPK3 synonymous SNV ALPK3:NM_020778:exon1:c.T24C:p.Y8Y 0.86 0.98 0.76 0.95 0.79 0.78 0.8189 0.9519 0.7484 0.9408 0.7650 0.8036 0.8296 0.7997 0.86 0.95 0.81 0.9 0.66 rs11857356 . . Benign not_specified RCV000417526.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8115 0.9553 0.7486 0.8476 0.9422 0.7572 0.8030 0.8027 0.7944 0.8489 0.9521 0.7644 0.8444 0.9388 0.7497 0.8104 0.7951 hom 1049.32 38 15 85360101 . T C 1049.32 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.39;MQ0=0;QD=27.61;VQSLOD=8.3241;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:90.24:1082,90,0 15 85383839 85383839 G A exonic ALPK3 synonymous SNV ALPK3:NM_020778:exon5:c.G1935A:p.G645G 0.74 0.76 0.66 0.94 0.63 0.7 0.6789 0.7557 0.6604 0.9123 0.6256 0.6399 0.6617 0.7079 0.68 0.74 0.64 0.76 0.45 rs3803406 . . Benign not_specified RCV000426879.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6802 0.7519 0.6614 0.6617 0.9135 0.6224 0.6427 0.6601 0.7061 0.6804 0.7458 0.6671 0.6424 0.9041 0.6044 0.6399 0.6393 het 525.13 34 15 85383839 . G A 525.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.018;DP=34;Dels=0.00;FS=2.928;HRun=0;HaplotypeScore=0.9947;MQ=60.00;MQ0=0;MQRankSum=-0.742;QD=15.45;ReadPosRankSum=-0.914;VQSLOD=5.4369;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,18:34:99:555,0,484 15 85401259 85401259 C T exonic ALPK3 nonsynonymous SNV ALPK3:NM_020778:exon6:c.C3896T:p.P1299L 0.8 0.9 0.7 0.86 0.74 0.76 0.7644 0.8686 0.6871 0.8455 0.7380 0.7502 0.7739 0.7761 0.79 0.87 0.75 0.81 0.55 rs306197 COSM1478428;COSM434463 1(urinary_tract) Benign not_specified RCV000436934.1 MedGen CN169374 . . . . . . 0.5 0.077 T 0.0 0.026 B 0.0 0.013 B 0.000 0.006 N 1 0.090 P -1.01 0.011 N 0.36 0.579 T 0.19 0.050 N 0.04 0.020 -0.979 0.353 T 0.000 0.000 T . . . 0.296 0.122 5.651 0.442 0.033 0.002 0.013 N c -1.440 -1.377 0.967 0.289 0.638 0.428 0 1.91 0.247 -0.811 0.046 -0.381 0.065 0.000 0.063 0.003 0.074 6.756 0.226 . ENSG00000230373.4|ENSG00000176700.15|ENSG00000197696.5|ENSG00000176700.15|ENSG00000259683.1|ENSG00000176700.15|ENSG00000166716.5|ENSG00000176700.15|ENSG00000230373.4|ENSG00000259728.1|ENSG00000230373.4|ENSG00000176700.15 Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.7571 0.8707 0.6939 0.8017 0.8411 0.7302 0.7450 0.7543 0.7700 0.7861 0.8723 0.7261 0.8046 0.8461 0.7212 0.7505 0.7392 het 82.73 11 15 85401259 . C T 82.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.034;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.278;QD=7.52;ReadPosRankSum=-0.278;VQSLOD=10.3940;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,4:11:99:113,0,176 15 85401419 85401419 T C exonic ALPK3 synonymous SNV ALPK3:NM_020778:exon6:c.T4056C:p.G1352G 0.85 0.87 0.76 0.96 0.81 0.8 0.8276 0.8624 0.7502 0.9483 0.8077 0.8254 0.8306 0.8134 0.84 0.87 0.82 0.84 0.51 rs167379 COSM1478430;COSM1478429 1(liver) Benign not_specified RCV000420432.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8238 0.8587 0.7591 0.8540 0.9494 0.8023 0.8240 0.8197 0.8121 0.8417 0.8605 0.7871 0.8444 0.9493 0.7980 0.8334 0.8244 het 292.06 27 15 85401419 . T C 292.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.855;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.61;MQ0=0;MQRankSum=-0.268;QD=10.82;ReadPosRankSum=-0.415;VQSLOD=6.9514;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:322,0,347 15 85438311 85438311 - TTG exonic SLC28A1 nonframeshift insertion SLC28A1:NM_001287761:exon5:c.418_419insTTG:p.L140_K141insV,SLC28A1:NM_001287762:exon5:c.418_419insTTG:p.L140_K141insV,SLC28A1:NM_001321721:exon6:c.418_419insTTG:p.L140_K141insV,SLC28A1:NM_001321722:exon6:c.418_419insTTG:p.L140_K141insV,SLC28A1:NM_004213:exon6:c.418_419insTTG:p.L140_K141insV,SLC28A1:NM_201651:exon6:c.418_419insTTG:p.L140_K141insV 0.26 0.31 0.27 0.19 0.31 0.19 0.2802 0.3017 0.2030 0.1993 0.2906 0.3175 0.2947 0.2077 0.3 0.3 0.3 0.011 . rs17215836 COSM4603134;COSM308704;COSM308705 1(lung);9(upper_aerodigestive_tract);1(large_intestine);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2731 0.2969 0.2081 0.3637 0.2018 0.3003 0.3052 0.3060 0.2020 0.2959 0.2949 0.2314 0.36 0.2097 0.2799 0.3120 0.2930 het 3769.33 128 15 85438311 . C CTTG 3769.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.650;DP=128;FS=7.170;HRun=0;HaplotypeScore=522.5971;MQ=55.28;MQ0=0;MQRankSum=-4.118;QD=29.45;ReadPosRankSum=0.674;set=variant2 GT:AD:DP:GQ:PL 0/1:71,52:128:99:3769,0,2769 15 85478410 85478410 A G exonic SLC28A1 synonymous SNV SLC28A1:NM_001287762:exon13:c.A1368G:p.Q456Q,SLC28A1:NM_001321721:exon14:c.A1368G:p.Q456Q,SLC28A1:NM_001321722:exon14:c.A1368G:p.Q456Q,SLC28A1:NM_004213:exon14:c.A1368G:p.Q456Q 0.93 0.96 0.88 0.96 0.89 0.94 0.8876 0.9489 0.8603 0.9596 0.8262 0.8686 0.9075 0.9310 0.9 0.95 0.87 0.92 0.9 rs2242048 COSM3999650;COSM434468 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8841 0.9492 0.8588 0.9339 0.9594 0.8260 0.8665 0.8769 0.9285 0.8882 0.9472 0.8496 0.9238 0.9567 0.8309 0.8639 0.8493 hom 3671.55 114 15 85478410 . A G 3671.55 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.3724;MQ=59.01;MQ0=0;QD=32.21;VQSLOD=9.2970;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3671,283,0 15 85478729 85478729 G A exonic SLC28A1 nonsynonymous SNV SLC28A1:NM_001287762:exon14:c.G1561A:p.D521N,SLC28A1:NM_001321721:exon15:c.G1561A:p.D521N,SLC28A1:NM_001321722:exon15:c.G1561A:p.D521N,SLC28A1:NM_004213:exon15:c.G1561A:p.D521N 0.21 0.033 0.26 0.06 0.5 0.26 0.3754 0.0925 0.1877 0.0758 0.4476 0.5014 0.4537 0.2992 0.36 0.1 0.5 0.23 0.43 rs2242046 . . . . . . . . . . . . . 0.126 0.272 T 0.061 0.217 B 0.009 0.133 B 0.989 0.080 N 1 0.090 P 0.445 0.128 N 4.68 0.017 T 0.18 0.050 N 0.044 0.025 -0.991 0.324 T 0.000 0.000 T . . . 0.618 0.153 8.282 0.962 0.284 0.119 0.168 N c -1.136 -1.161 1.000 0.425 0.595 0.332 0 -0.144 0.127 1.021 0.294 -0.883 0.027 0.001 0.137 0.012 0.117 2.074 0.034 Concentrative nucleoside transporter C-terminal domain . . 0.3758 0.0840 0.2066 0.5523 0.0758 0.4525 0.5004 0.4207 0.3029 0.3526 0.0946 0.2632 0.5265 0.0841 0.4536 0.5054 0.4257 hom 4778.59 149 15 85478729 . G A 4778.59 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5707;MQ=59.07;MQ0=0;QD=32.07;VQSLOD=9.2447;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4778,370,0 15 86122654 86122654 T C exonic AKAP13 nonsynonymous SNV AKAP13:NM_006738:exon7:c.T1355C:p.M452T,AKAP13:NM_007200:exon7:c.T1355C:p.M452T 0.58 0.55 0.62 0.58 0.62 0.57 0.6107 0.5847 0.5414 0.5786 0.5085 0.6518 0.6206 0.5667 0.63 0.59 0.64 0.54 0.63 rs2061821 COSM4984854;COSM4984855 16(soft_tissue) . . . . . . . . . . . 1.0 0.058 T 0.002 0.102 B 0.001 0.040 B . . . 1 0.090 P 0.895 0.225 L 3.87 0.076 T -0.76 0.234 N 0.021 0.349 -0.909 0.470 T 0.000 0.000 T . . . 0.187 0.112 4.538 0.752 0.106 0.013 0.044 N c -1.697 -1.767 1.000 0.747 0.731 0.878 0 -8.74 0.007 -1.084 0.035 -0.684 0.039 0.000 0.063 0.001 0.043 14.316 0.659 . ENSG00000170776.15|ENSG00000259762.1|ENSG00000259762.1 Brain_Cerebellum|Nerve_Tibial|Testis 0.6066 0.5833 0.5537 0.7103 0.5821 0.5104 0.6492 0.6243 0.5688 0.6006 0.5922 0.5682 0.6867 0.5814 0.5032 0.6307 0.5949 hom 2706.33 88 15 86122654 . T C 2706.33 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=60.00;MQ0=0;QD=30.75;VQSLOD=8.6001;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2739,223,0 15 86122779 86122779 T C exonic AKAP13 nonsynonymous SNV AKAP13:NM_006738:exon7:c.T1480C:p.W494R,AKAP13:NM_007200:exon7:c.T1480C:p.W494R 0.6 0.55 0.65 0.58 0.65 0.58 0.6322 0.5915 0.5586 0.5788 0.5424 0.6817 0.6578 0.5719 0.65 0.6 0.67 0.54 0.64 rs2061822 COSM3999653;COSM3999652 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.495 0.139 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N 3.85 0.088 T 1.87 0.013 N 0.024 0.438 -1.033 0.193 T 0.000 0.000 T . . . -0.126 0.082 1.546 0.592 0.060 0.005 0.024 N c -1.375 -1.317 1.000 0.500 0.707 0.730 0 2.25 0.272 -0.159 0.100 -0.337 0.073 0.000 0.063 0.002 0.062 4.568 0.115 . ENSG00000170776.15|ENSG00000259762.1 Brain_Cerebellum|Testis 0.6283 0.5891 0.5713 0.7642 0.5819 0.5435 0.6769 0.6528 0.5745 0.6209 0.5960 0.5825 0.7517 0.5806 0.5401 0.6580 0.6232 hom 3722.30 126 15 86122779 . T C 3722.30 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.34;MQ0=0;QD=29.54;VQSLOD=8.9910;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3722,304,0 15 86122916 86122916 T C exonic AKAP13 synonymous SNV AKAP13:NM_006738:exon7:c.T1617C:p.A539A,AKAP13:NM_007200:exon7:c.T1617C:p.A539A 0.58 0.55 0.62 0.58 0.62 0.57 0.6105 0.5849 0.5406 0.5786 0.5080 0.6516 0.6211 0.5664 0.63 0.59 0.64 0.54 0.62 rs2061823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6065 0.5832 0.5536 0.7105 0.5819 0.5105 0.6490 0.6250 0.5686 0.6000 0.5908 0.5682 0.6887 0.5806 0.5029 0.6302 0.5961 hom 5184.17 168 15 86122916 . T C 5184.17 Mask AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1081;MQ=58.38;MQ0=0;QD=30.86;VQSLOD=7.3925;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,168:168:99:5183,400,0 15 86123019 86123019 C T exonic AKAP13 nonsynonymous SNV AKAP13:NM_006738:exon7:c.C1720T:p.R574C,AKAP13:NM_007200:exon7:c.C1720T:p.R574C 0.58 0.55 0.62 0.58 0.62 0.57 0.6107 0.5857 0.5412 0.5784 0.5080 0.6518 0.6203 0.5665 0.63 0.59 0.64 0.54 0.6 rs2061824 COSM3999654;COSM3999655 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.389 0.109 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.59 0.004 N 3.72 0.113 T 1.99 0.004 N 0.026 0.432 -0.945 0.419 T 0.000 0.000 T . . . 0.863 0.176 9.844 0.570 0.056 0.012 0.043 N c -1.586 -1.591 1.000 0.747 0.722 0.854 0 -6.59 0.017 -0.906 0.041 0.120 0.210 0.000 0.063 0.004 0.083 1.166 0.017 . ENSG00000170776.15|ENSG00000259762.1|ENSG00000259762.1 Brain_Cerebellum|Nerve_Tibial|Testis 0.6065 0.5831 0.5537 0.7102 0.5818 0.5104 0.6490 0.6247 0.5687 0.6005 0.5918 0.5668 0.6887 0.5806 0.5034 0.6308 0.5953 hom 6166.54 204 15 86123019 . C T 6166.54 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=30.23;VQSLOD=9.0354;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,203:204:99:6166,469,0 15 86123170 86123170 G T exonic AKAP13 nonsynonymous SNV AKAP13:NM_006738:exon7:c.G1871T:p.G624V,AKAP13:NM_007200:exon7:c.G1871T:p.G624V 0.13 0.011 0.22 0.017 0.3 0.19 0.2280 0.0473 0.1716 0.0249 0.2321 0.2998 0.2588 0.1936 0.2 0.048 0.28 0.2 0.28 rs745191 COSM3754534;COSM3754535 1(skin);1(large_intestine) . . . . . . . . . . . 0.014 0.599 D 0.001 0.067 B 0.002 0.093 B . . . 1.000 0.090 P 1.65 0.424 L 3.75 0.096 T -2.81 0.618 D 0.039 0.438 -0.914 0.464 T 0.000 0.000 T . . . 2.760 0.393 21.2 0.937 0.230 0.109 0.161 N c -1.039 -1.045 1.000 0.747 0.722 0.854 0 0.36 0.153 0.250 0.179 0.135 0.219 0.000 0.063 0.000 0.016 3.196 0.062 . . . 0.2290 0.0414 0.1795 0.3983 0.0273 0.2345 0.2915 0.2780 0.1965 0.1980 0.0474 0.2076 0.4338 0.0284 0.2287 0.2873 0.2654 het 1383.46 112 15 86123170 . G T 1383.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.648;DP=112;Dels=0.00;FS=3.570;HRun=0;HaplotypeScore=1.9976;MQ=59.20;MQ0=0;MQRankSum=-0.721;QD=12.35;ReadPosRankSum=-0.120;VQSLOD=6.2941;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,52:112:99:1413,0,1826 15 86123364 86123364 G A exonic AKAP13 nonsynonymous SNV AKAP13:NM_006738:exon7:c.G2065A:p.E689K,AKAP13:NM_007200:exon7:c.G2065A:p.E689K 0.076 0.0091 0.098 0.001 0.19 0.11 0.1576 0.0377 0.0694 0.0002 0.1937 0.2178 0.1578 0.1202 0.16 0.048 0.22 0.054 0.17 rs7177107 COSM4998282;COSM4998281 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.011 0.167 B 0.002 0.093 B . . . 1 0.090 P 0 0.065 N 3.78 0.094 T -0.06 0.079 N 0.035 0.406 -0.966 0.380 T 0.000 0.000 T . . . 1.550 0.248 13.58 0.977 0.351 0.069 0.128 N c -1.194 -1.102 1.000 0.747 0.722 0.854 0 3.38 0.376 0.369 0.200 0.068 0.175 0.002 0.151 0.002 0.062 11.902 0.518 . ENSG00000259416.2|ENSG00000259416.2|ENSG00000259416.2|ENSG00000259762.1|ENSG00000259416.2|ENSG00000259416.2|ENSG00000259762.1|ENSG00000259367.1|ENSG00000259276.1|ENSG00000259416.2 Adipose_Subcutaneous|Brain_Cortex|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Testis|Thyroid 0.1548 0.0347 0.0722 0.1693 0.0008 0.1896 0.2206 0.1527 0.1237 0.1481 0.0435 0.0861 0.1333 0.0025 0.1869 0.2175 0.1786 het 1998.81 170 15 86123364 . G A 1998.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.603;DP=170;DS;Dels=0.00;FS=0.588;HRun=1;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=-1.795;QD=11.76;ReadPosRankSum=-2.261;VQSLOD=4.7845;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,73:170:99:2029,0,2615 15 86123833 86123833 T C exonic AKAP13 nonsynonymous SNV AKAP13:NM_006738:exon7:c.T2534C:p.V845A,AKAP13:NM_007200:exon7:c.T2534C:p.V845A 0.58 0.55 0.62 0.58 0.61 0.57 0.6072 0.5827 0.5376 0.5791 0.5079 0.6479 0.6123 0.5616 0.63 0.59 0.64 0.53 0.61 rs4075256 COSM4128508;COSM4128509 1(pancreas);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P 0.095 0.085 N 2.76 0.115 T 0.12 0.056 N 0.013 0.206 -0.997 0.308 T 0.000 0.000 T . . . -1.121 0.028 0.009 0.344 0.021 0.009 0.035 N c -1.491 -1.447 1.000 0.747 0.722 0.854 0 0.070 0.136 -1.139 0.033 -0.337 0.073 0.000 0.063 0.000 0.016 6.569 0.216 . ENSG00000170776.15|ENSG00000259762.1|ENSG00000259762.1 Brain_Cerebellum|Nerve_Tibial|Testis 0.6029 0.5814 0.5510 0.6808 0.5818 0.5101 0.6466 0.6186 0.5638 0.5979 0.5894 0.5644 0.6623 0.5800 0.5029 0.6276 0.5961 hom 5511.66 174 15 86123833 . T C 5511.66 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8114;MQ=59.12;MQ0=0;QD=31.68;VQSLOD=6.0631;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:5511,427,0 15 86123924 86123924 C T exonic AKAP13 synonymous SNV AKAP13:NM_006738:exon7:c.C2625T:p.P875P,AKAP13:NM_007200:exon7:c.C2625T:p.P875P 0.58 0.55 0.62 0.58 0.62 0.57 0.6106 0.5832 0.5410 0.5789 0.5088 0.6520 0.6231 0.5664 0.63 0.59 0.64 0.54 0.62 rs4075255 COSM3999659;COSM3999658 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6063 0.5816 0.5534 0.7102 0.5819 0.5106 0.6490 0.6242 0.5685 0.5995 0.5896 0.5683 0.6887 0.5790 0.5032 0.6303 0.5941 hom 4491.77 138 15 86123924 . C T 4491.77 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6134;MQ=59.16;MQ0=0;QD=32.55;VQSLOD=6.5559;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4491,352,0 15 86123988 86123988 G A exonic AKAP13 nonsynonymous SNV AKAP13:NM_006738:exon7:c.G2689A:p.V897M,AKAP13:NM_007200:exon7:c.G2689A:p.V897M 0.58 0.55 0.62 0.58 0.62 0.57 0.6105 0.5834 0.5405 0.5777 0.5082 0.6520 0.6225 0.5664 0.63 0.59 0.64 0.54 0.62 rs4075254 . . . . . . . . . . . . . 0.106 0.310 T 0.02 0.190 B 0.009 0.179 B . . . 1 0.090 P 0.695 0.181 N 2.22 0.182 T -0.78 0.245 N 0.05 0.320 -0.997 0.308 T 0.000 0.000 T . . . 0.519 0.144 7.572 0.915 0.202 0.151 0.186 N c -0.726 -0.697 1.000 0.747 0.757 0.989 0 3.8 0.427 1.492 0.350 0.135 0.219 0.059 0.215 0.001 0.043 7.960 0.291 . ENSG00000170776.15|ENSG00000259762.1|ENSG00000259762.1 Brain_Cerebellum|Nerve_Tibial|Testis 0.6063 0.5818 0.5533 0.7102 0.5819 0.5104 0.6491 0.6244 0.5687 0.5996 0.5898 0.5661 0.6887 0.5787 0.5031 0.6303 0.5951 hom 4777.66 156 15 86123988 . G A 4777.66 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8308;MQ=59.56;MQ0=0;QD=30.63;VQSLOD=9.1878;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4777,388,0 15 86124419 86124419 C T exonic AKAP13 synonymous SNV AKAP13:NM_006738:exon7:c.C3120T:p.S1040S,AKAP13:NM_007200:exon7:c.C3120T:p.S1040S 0.58 0.55 0.62 0.58 0.62 0.57 0.6103 0.5826 0.5406 0.5784 0.5079 0.6516 0.6225 0.5663 0.63 0.59 0.64 0.54 0.62 rs4843073 COSM3999660;COSM3999661 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6062 0.5814 0.5532 0.7104 0.5817 0.5101 0.6490 0.6244 0.5685 0.5998 0.5894 0.5668 0.6933 0.5802 0.5040 0.6307 0.5943 hom 4227.56 126 15 86124419 . C T 4227.56 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9895;MQ=59.41;MQ0=0;QD=33.55;VQSLOD=9.8144;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4227,334,0 15 86124483 86124483 C G exonic AKAP13 nonsynonymous SNV AKAP13:NM_006738:exon7:c.C3184G:p.P1062A,AKAP13:NM_007200:exon7:c.C3184G:p.P1062A 0.58 0.55 0.62 0.58 0.62 0.57 0.6103 0.5823 0.5405 0.5787 0.5082 0.6517 0.6211 0.5664 0.63 0.59 0.64 0.54 0.62 rs4843074 COSM3999663;COSM3999662 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.059 0.586 T 0.243 0.320 B 0.079 0.333 B . . . 1 0.090 P 1.67 0.430 L 2.4 0.156 T -1.5 0.391 N 0.044 0.234 -0.995 0.314 T 0.000 0.000 T . . . 0.621 0.153 8.302 0.903 0.190 0.061 0.119 N c -0.938 -1.013 1.000 0.747 0.732 0.924 0 -0.872 0.101 -0.502 0.064 0.007 0.138 0.000 0.063 0.049 0.163 0.559 0.006 . ENSG00000170776.15|ENSG00000259762.1|ENSG00000259762.1 Brain_Cerebellum|Nerve_Tibial|Testis 0.6064 0.5816 0.5533 0.7103 0.5817 0.5105 0.6491 0.6247 0.5685 0.5996 0.5900 0.5668 0.6887 0.5787 0.5034 0.6301 0.5951 hom 4521.21 134 15 86124483 . C G 4521.21 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=33.74;VQSLOD=9.2049;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4521,346,0 15 86124555 86124555 G A exonic AKAP13 nonsynonymous SNV AKAP13:NM_006738:exon7:c.G3256A:p.D1086N,AKAP13:NM_007200:exon7:c.G3256A:p.D1086N 0.58 0.55 0.62 0.58 0.62 0.57 0.6102 0.5825 0.5406 0.5780 0.5082 0.6515 0.6214 0.5664 0.63 0.59 0.64 0.54 0.61 rs4843075 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.5 0.005 N 3.16 0.077 T 1.47 0.008 N 0.002 0.014 -0.976 0.360 T 0.000 0.000 T . . . -0.700 0.045 0.072 0.585 0.059 0.007 0.031 N c -1.500 -1.450 1.000 0.409 0.732 0.924 0 -0.344 0.119 0.192 0.168 -0.192 0.103 0.000 0.063 0.024 0.140 4.211 0.099 . ENSG00000170776.15|ENSG00000259762.1|ENSG00000259762.1 Brain_Cerebellum|Nerve_Tibial|Testis 0.6063 0.5814 0.5531 0.7104 0.5816 0.5103 0.6490 0.6248 0.5686 0.5993 0.5890 0.5668 0.6887 0.5803 0.5034 0.6299 0.5959 hom 4740.54 140 15 86124555 . G A 4740.54 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8273;MQ=59.84;MQ0=0;QD=33.86;VQSLOD=9.1901;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4740,370,0 15 86124946 86124946 T C exonic AKAP13 nonsynonymous SNV AKAP13:NM_006738:exon7:c.T3647C:p.M1216T,AKAP13:NM_007200:exon7:c.T3647C:p.M1216T 0.58 0.55 0.62 0.58 0.62 0.57 0.6095 0.5845 0.5378 0.5775 0.5107 0.6508 0.6217 0.5643 0.63 0.59 0.64 0.54 0.62 rs7162168 . . . . . . . . . . . . . 0.592 0.058 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 2.77 0.114 T 0.15 0.053 N 0.017 0.318 -0.951 0.408 T 0.000 0.000 T . . . -2.752 0.002 0.001 0.376 0.025 0.024 0.067 N c -1.503 -1.545 1.000 0.747 0.731 0.878 0 -4.99 0.028 -0.792 0.047 -0.928 0.025 0.000 0.063 0.000 0.016 2.279 0.038 . ENSG00000170776.15|ENSG00000259762.1|ENSG00000259762.1 Brain_Cerebellum|Nerve_Tibial|Testis 0.6056 0.5826 0.5532 0.7035 0.5835 0.5122 0.6483 0.6232 0.5664 0.6006 0.5899 0.5670 0.6833 0.5816 0.5074 0.6311 0.5959 hom 2092.40 69 15 86124946 . T C 2092.40 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=30.32;VQSLOD=9.3739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2125,177,0 15 86124968 86124968 G A exonic AKAP13 synonymous SNV AKAP13:NM_006738:exon7:c.G3669A:p.R1223R,AKAP13:NM_007200:exon7:c.G3669A:p.R1223R 0.58 0.53 0.62 0.58 0.61 0.57 0.6056 0.5665 0.5360 0.5749 0.5062 0.6489 0.6139 0.5594 0.62 0.58 0.64 0.54 0.62 rs11633087 COSM4128511;COSM4128510 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6019 0.5656 0.5487 0.7039 0.5811 0.5093 0.6464 0.6198 0.5612 0.5928 0.5690 0.5635 0.6833 0.5819 0.5034 0.6286 0.5927 hom 2563.53 78 15 86124968 . G A 2563.53 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1703;MQ=58.75;MQ0=0;QD=32.87;VQSLOD=8.8680;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2597,211,0 15 86125031 86125031 G A exonic AKAP13 synonymous SNV AKAP13:NM_006738:exon7:c.G3732A:p.G1244G,AKAP13:NM_007200:exon7:c.G3732A:p.G1244G 0.58 0.54 0.62 0.58 0.61 0.55 0.6067 0.5805 0.5377 0.5730 0.5079 0.6506 0.6256 0.5504 0.63 0.59 0.64 0.54 0.62 rs7178065 COSM4128512;COSM4128513 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6034 0.5794 0.5524 0.7039 0.5775 0.5112 0.6484 0.6240 0.5539 0.5994 0.5876 0.5656 0.6821 0.5774 0.5040 0.6315 0.5932 hom 2336.87 76 15 86125031 . G A 2336.87 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.02;MQ0=0;QD=30.75;VQSLOD=8.9017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2370,190,0 15 86278309 86278309 G A exonic AKAP13 nonsynonymous SNV AKAP13:NM_001270546:exon23:c.G3232A:p.G1078S,AKAP13:NM_006738:exon31:c.G7381A:p.G2461S,AKAP13:NM_007200:exon31:c.G7369A:p.G2457S 0.14 0.0098 0.22 0.049 0.28 0.19 0.2189 0.0437 0.1676 0.0499 0.2297 0.2819 0.25 0.1933 0.19 0.045 0.27 0.17 0.25 rs2241268 COSM3754541;COSM3754540 1(large_intestine) . . . . . . . . . . . 0.196 0.225 T 0.999 0.764 D 0.924 0.695 D . . . 0.001 0.460 P 1.75 0.456 L 2.14 0.194 T -3.92 0.733 D 0.269 0.332 -0.999 0.301 T 0.000 0.000 T . . . 2.579 0.371 19.97 0.996 0.744 0.976 0.753 D c 0.096 0.069 1.000 0.747 0.719 0.830 0 4.86 0.625 3.957 0.562 0.103 0.200 1.000 0.715 0.012 0.117 14.2 0.651 . . . 0.2200 0.0385 0.1721 0.3962 0.0521 0.2267 0.2727 0.2680 0.1960 0.1888 0.0444 0.1962 0.4238 0.0475 0.2255 0.2704 0.2510 het 4006.54 239 15 86278309 . G A 4006.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.517;DP=239;DS;Dels=0.00;FS=1.692;HRun=0;HaplotypeScore=8.4258;MQ=58.89;MQ0=0;MQRankSum=0.588;QD=16.76;ReadPosRankSum=0.252;VQSLOD=4.2919;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,119:239:99:3371,0,3227 15 86311695 86311695 G A exonic KLHL25 synonymous SNV KLHL25:NM_022480:exon2:c.C1347T:p.F449F 0.12 0.011 0.23 0.019 0.29 0.15 0.2185 0.0447 0.1674 0.0207 0.2698 0.2894 0.2616 0.1581 0.2 0.045 0.27 0.14 0.25 rs1978391 COSM3754542 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2198 0.0395 0.1721 0.3906 0.0220 0.2674 0.2787 0.2716 0.1607 0.1964 0.0442 0.1974 0.4205 0.0235 0.2643 0.2787 0.2709 het 1993.36 148 15 86311695 . G A 1993.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.062;DP=148;Dels=0.00;FS=0.630;HRun=4;HaplotypeScore=0.9995;MQ=59.84;MQ0=0;MQRankSum=-0.556;QD=13.47;ReadPosRankSum=-0.479;VQSLOD=6.5571;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,75:148:99:2023,0,1966 15 86312681 86312681 G A exonic KLHL25 synonymous SNV KLHL25:NM_022480:exon2:c.C361T:p.L121L 0.12 0.011 0.23 0.019 0.29 0.15 0.2179 0.0447 0.1665 0.0213 0.2710 0.2883 0.2616 0.1577 0.19 0.046 0.27 0.14 0.25 rs11073537 COSM3765829 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2192 0.0393 0.1715 0.3844 0.0226 0.2674 0.2782 0.2698 0.1607 0.1957 0.0437 0.1969 0.4106 0.0234 0.2652 0.2773 0.2714 het 1622.97 115 15 86312681 . G A 1622.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.660;DP=115;Dels=0.00;FS=10.600;HRun=1;HaplotypeScore=0.9469;MQ=59.40;MQ0=0;MQRankSum=1.015;QD=14.11;ReadPosRankSum=1.099;VQSLOD=4.2584;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,58:115:99:1653,0,1670 15 86800209 86800209 C T exonic AGBL1 synonymous SNV AGBL1:NM_152336:exon8:c.C861T:p.P287P 0.54 0.77 0.53 0.22 0.58 0.53 0.5547 0.7445 0.4576 0.1993 0.4973 0.5946 0.5625 0.5552 0.65 0.74 0.6 0.53 . rs1353578 COSM3754543;COSM4415920 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5458 0.7501 0.4661 0.6892 0.1964 0.4934 0.5918 0.5794 0.5466 0.6116 0.7526 0.5048 0.6788 0.2058 0.5017 0.6050 0.5920 hom 2995.28 99 15 86800209 . C T 2995.28 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=30.26;VQSLOD=8.9137;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3028,235,0 15 86806029 86806029 C T exonic AGBL1 synonymous SNV AGBL1:NM_152336:exon10:c.C990T:p.D330D . . . . . . 0.5909 0.8924 0.5009 0.2317 0.5194 0.6119 0.5917 0.5775 0.69 0.89 0.6 0.62 . rs1566088 COSM3754545;COSM4416259;COSM3754544 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5550 0.9009 0.4703 0.6971 0.1971 0.4984 0.5897 0.5894 0.5477 0.6558 0.8955 0.5084 0.6867 0.2115 0.5115 0.6092 0.5973 hom 1184.79 41 15 86806029 . C T 1184.79 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.90;VQSLOD=13.6181;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:96.29:1218,96,0 15 86807761 86807761 A G exonic AGBL1 synonymous SNV AGBL1:NM_152336:exon11:c.A1359G:p.E453E 0.51 0.69 0.48 0.35 0.42 0.52 0.4403 0.6388 0.4008 0.3588 0.3795 0.4193 0.4454 0.5014 0.47 0.61 0.41 0.51 . rs10520618 COSM4418966;COSM3754547;COSM3754546 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4354 0.6451 0.4062 0.4973 0.3572 0.3786 0.4154 0.4543 0.4977 0.4800 0.6328 0.4222 0.5132 0.3630 0.3809 0.4306 0.4642 hom 2643.33 84 15 86807761 . A G 2643.33 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4750;MQ=60.00;MQ0=0;QD=31.47;VQSLOD=8.8680;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2676,208,0 15 86814866 86814866 A G exonic AGBL1 synonymous SNV AGBL1:NM_152336:exon15:c.A2004G:p.L668L 0.68 0.86 0.7 0.38 0.68 0.74 0.6787 0.8391 0.6623 0.3843 0.6731 0.6829 0.6826 0.7335 0.73 0.84 0.68 0.72 . rs11858435 COSM3754548;COSM4418021;COSM3754549 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6748 0.8464 0.6647 0.7255 0.3819 0.6723 0.6793 0.6911 0.7310 0.7193 0.8421 0.6538 0.7185 0.3891 0.6673 0.6993 0.7163 hom 5372.59 181 15 86814866 . A G 5372.59 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8041;MQ=58.73;MQ0=0;QD=29.68;VQSLOD=7.7292;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,181:181:99:5372,400,0 15 86940622 86940622 T C exonic AGBL1 synonymous SNV AGBL1:NM_152336:exon18:c.T2400C:p.T800T 0.74 0.97 0.69 0.88 0.43 0.66 0.5826 0.9133 0.7855 0.8759 0.4012 0.4651 0.5034 0.6438 0.61 0.9 0.47 0.73 . rs4362360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5809 0.9211 0.7629 0.4988 0.8763 0.3983 0.4628 0.5305 0.6428 0.6205 0.9048 0.7053 0.47 0.8901 0.4044 0.4810 0.5275 het 1300.07 79 15 86940622 . T C 1300.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.115;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4738;MQ=59.47;MQ0=0;MQRankSum=0.884;QD=16.46;ReadPosRankSum=0.583;VQSLOD=4.5241;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:35,43:79:99:1330,0,1038 15 87217613 87217613 A G exonic AGBL1 nonsynonymous SNV AGBL1:NM_152336:exon23:c.A3167G:p.Q1056R 0.89 0.83 0.86 0.92 0.92 0.94 0.9016 0.8392 0.8130 0.9115 0.9201 0.9113 0.9206 0.9468 0.89 0.85 0.91 0.62 . rs8028043 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.695 0.019 N 3.03 0.089 T 0.18 0.050 N 0.003 0.005 -1.059 0.119 T 0.000 0.000 T . . . -1.667 0.013 0.002 0.138 0.003 0.002 0.013 N c -1.735 -1.652 0.000 0.029 0.487 0.133 0 -0.039 0.131 0.052 0.139 -1.432 0.011 0.000 0.063 0.000 0.016 8.950 0.348 . . . 0.9001 0.8356 0.8195 0.9571 0.9127 0.9265 0.9077 0.9089 0.9467 0.8893 0.8370 0.8381 0.9404 0.9057 0.9255 0.9103 0.9059 hom 1315.19 46 15 87217613 . A G 1315.19 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.09;MQ0=0;QD=28.59;VQSLOD=8.2747;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:46:99:1348,114,0 15 87531281 87531281 A C exonic AGBL1 synonymous SNV AGBL1:NM_152336:exon24:c.A3285C:p.T1095T 0.82 0.65 0.76 0.92 0.86 0.95 0.8580 0.6814 0.7693 0.9097 0.8744 0.8702 0.8753 0.9411 0.81 0.69 0.86 0.8 . rs1006030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8556 0.6796 0.7727 0.8271 0.9125 0.8699 0.8730 0.8478 0.9393 0.8115 0.6819 0.7554 0.8146 0.9021 0.8729 0.8633 0.8487 hom 7758.65 242 15 87531281 . A C 7758.65 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8600;MQ=59.42;MQ0=0;QD=32.06;VQSLOD=9.4914;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:7758,587,0 15 88576185 88576185 G C exonic NTRK3 synonymous SNV NTRK3:NM_001320134:exon12:c.C1488G:p.A496A,NTRK3:NM_001320135:exon12:c.C1194G:p.A398A,NTRK3:NM_001243101:exon13:c.C1464G:p.A488A,NTRK3:NM_001007156:exon14:c.C1488G:p.A496A,NTRK3:NM_001012338:exon14:c.C1488G:p.A496A,NTRK3:NM_002530:exon14:c.C1488G:p.A496A 0.35 0.44 0.37 0.21 0.32 0.39 0.3610 0.4236 0.3534 0.2098 0.3137 0.3679 0.3904 0.3946 0.37 0.4 0.36 0.28 0.34 rs2229910 COSM4128520;COSM147967;COSM4128519 1(stomach);13(soft_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3478 0.4157 0.3393 0.4076 0.2077 0.2947 0.3569 0.3562 0.3870 0.3598 0.4131 0.3598 0.4324 0.2279 0.2966 0.3576 0.3428 hom 1546 55 15 88576185 . G C 1546 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=28.11;VQSLOD=7.4377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1579,141,0 15 88679785 88679785 G A exonic NTRK3 synonymous SNV NTRK3:NM_001320134:exon6:c.C678T:p.N226N,NTRK3:NM_001320135:exon6:c.C384T:p.N128N,NTRK3:NM_001007156:exon8:c.C678T:p.N226N,NTRK3:NM_001012338:exon8:c.C678T:p.N226N,NTRK3:NM_001243101:exon8:c.C678T:p.N226N,NTRK3:NM_002530:exon8:c.C678T:p.N226N 1. 1. 1. 1. 0.99 1. 0.9967 0.9993 0.9965 1 0.9968 0.9955 0.9956 0.9985 1. 1. 0.99 1. 1. rs1863480 COSM4128522;COSM4128523;COSM4128521 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9991 0.9976 0.9993 0.9999 0.9971 0.9949 0.9947 0.9983 0.9971 0.9995 0.9988 0.9967 1 0.9977 0.9951 0.9969 hom 2556.80 79 15 88679785 . G A 2556.80 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.71;MQ0=0;QD=32.36;VQSLOD=8.2548;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2590,211,0 15 88680684 88680684 G A exonic NTRK3 synonymous SNV NTRK3:NM_001320134:exon5:c.C573T:p.N191N,NTRK3:NM_001320135:exon5:c.C279T:p.N93N,NTRK3:NM_001007156:exon7:c.C573T:p.N191N,NTRK3:NM_001012338:exon7:c.C573T:p.N191N,NTRK3:NM_001243101:exon7:c.C573T:p.N191N,NTRK3:NM_002530:exon7:c.C573T:p.N191N 0.27 0.36 0.2 0.22 0.26 0.26 0.2631 0.3740 0.1504 0.2232 0.2412 0.2710 0.2644 0.2696 0.3 0.37 0.27 0.28 0.23 rs1128994 COSM5609716;COSM5609715;COSM5609714 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2564 0.3748 0.1501 0.3454 0.2268 0.2432 0.2680 0.2595 0.2682 0.2928 0.3753 0.1838 0.3709 0.2398 0.2457 0.2692 0.2454 het 991.34 83 15 88680684 . G A 991.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.012;DP=83;Dels=0.00;FS=4.159;HRun=0;HaplotypeScore=4.8395;MQ=58.59;MQ0=0;MQRankSum=0.917;QD=11.94;ReadPosRankSum=0.461;VQSLOD=4.9330;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,39:83:99:1021,0,1103 15 89056292 89056292 G T exonic DET1 synonymous SNV DET1:NM_001144074:exon5:c.C1543A:p.R515R,DET1:NM_001321596:exon6:c.C1543A:p.R515R,DET1:NM_017996:exon6:c.C1576A:p.R526R,DET1:NM_001321594:exon7:c.C1441A:p.R481R 0.026 0.0038 0.042 . 0.08 0.018 0.0453 0.0105 0.0196 0.0001 0.0440 0.0663 0.0584 0.0224 0.047 0.01 0.064 0.011 . rs75714837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0437 0.0099 0.0208 0.0637 5.799e-05 0.0488 0.0651 0.0385 0.0228 0.0425 0.0104 0.0215 0.0728 0 0.0544 0.0633 0.0469 het 578.97 69 15 89056292 . G T 578.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.581;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1229;MQ=59.67;MQ0=0;MQRankSum=0.599;QD=8.39;ReadPosRankSum=-0.196;VQSLOD=5.2826;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,26:69:99:609,0,1272 15 89169614 89169614 A G exonic AEN synonymous SNV AEN:NM_022767:exon2:c.A174G:p.E58E 0.2 0.083 0.21 0.15 0.36 0.22 0.2862 0.1081 0.1560 0.1599 0.4723 0.3541 0.3410 0.2159 0.27 0.11 0.35 0.21 0.22 rs3743476 COSM3754551;COSM3754550 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2849 0.0987 0.1697 0.3052 0.1586 0.4462 0.3516 0.3092 0.2137 0.2907 0.1076 0.2261 0.3675 0.1710 0.4582 0.3683 0.3663 het 203.13 27 15 89169614 . A G 203.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.879;DP=27;Dels=0.00;FS=3.565;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=0.527;QD=7.52;ReadPosRankSum=1.381;VQSLOD=5.0697;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,10:27:99:233,0,489 15 89169858 89169858 A G exonic AEN nonsynonymous SNV AEN:NM_022767:exon2:c.A418G:p.N140D 0.76 0.56 0.78 0.75 0.92 0.85 0.8602 0.5807 0.7221 0.7933 0.9360 0.9327 0.8866 0.8439 0.81 0.58 0.93 0.79 0.92 rs8027765 COSM4880641;COSM4880642 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.063 B 0.085 0.206 N 1 0.090 P -0.345 0.033 N 1.61 0.284 T 2.78 0.002 N 0.001 0.000 -0.956 0.400 T 0.000 0.000 T . . . 0.184 0.112 4.512 0.351 0.022 0.160 0.190 N c -0.923 -0.727 1.000 0.747 0.722 0.854 0 4.4 0.522 2.130 0.414 0.125 0.212 0.992 0.373 0.658 0.300 10.362 0.430 Exonuclease\x2c RNase T/DNA polymerase III|Ribonuclease H-like domain . . 0.8622 0.5722 0.7401 0.9486 0.7893 0.9382 0.9326 0.8834 0.8420 0.8225 0.5779 0.7757 0.9636 0.8123 0.9413 0.9337 0.8890 hom 6185.06 201 15 89169858 . A G 6185.06 Mask AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.89;MQ0=0;QD=30.77;VQSLOD=9.1285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,201:201:99:6184,490,0 15 89172558 89172558 G C exonic AEN synonymous SNV AEN:NM_022767:exon3:c.G642C:p.T214T 0.75 0.55 0.77 0.75 0.91 0.85 0.8529 0.5747 0.7175 0.7928 0.9344 0.9236 0.8844 0.8341 0.81 0.58 0.92 0.77 0.89 rs3743475 COSM4128525;COSM4128524 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8551 0.5665 0.7356 0.9446 0.7880 0.9358 0.9221 0.8760 0.8329 0.8165 0.5725 0.7727 0.9603 0.8119 0.9390 0.9249 0.8855 hom 4562.91 144 15 89172558 . G C 4562.91 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1461;MQ=59.48;MQ0=0;QD=31.69;VQSLOD=7.5464;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4562,358,0 15 89195526 89195526 A G exonic ISG20 synonymous SNV ISG20:NM_001303235:exon2:c.A381G:p.L127L,ISG20:NM_001303233:exon3:c.A414G:p.L138L,ISG20:NM_001303236:exon3:c.A381G:p.L127L,ISG20:NM_001303237:exon3:c.A354G:p.L118L,ISG20:NM_002201:exon3:c.A414G:p.L138L,ISG20:NM_001303234:exon4:c.A414G:p.L138L 0.8 0.77 0.75 0.73 0.83 0.89 0.8239 0.7729 0.7551 0.7499 0.7563 0.8471 0.8274 0.8759 0.83 0.77 0.86 0.78 0.86 rs1137166 COSM1129072 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8210 0.7657 0.7544 0.9108 0.7484 0.7529 0.8488 0.8485 0.8771 0.8012 0.7756 0.7825 0.9040 0.7541 0.7402 0.8348 0.7944 het 1031.57 93 15 89195526 . A G 1031.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.835;DP=93;Dels=0.00;FS=1.225;HRun=0;HaplotypeScore=2.9979;MQ=59.80;MQ0=0;MQRankSum=-1.168;QD=11.09;ReadPosRankSum=0.152;VQSLOD=5.6523;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,38:93:99:1062,0,1529 15 89391160 89391160 C A exonic ACAN synonymous SNV ACAN:NM_001135:exon9:c.C1623A:p.P541P,ACAN:NM_013227:exon9:c.C1623A:p.P541P 0.69 0.89 0.61 0.48 0.74 0.66 0.6958 0.8856 0.4449 0.4344 0.6704 0.7545 0.6878 0.6684 0.8 0.88 0.75 0.7 . rs2272023 COSM4128532;COSM147968 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6843 0.8876 0.4777 0.7658 0.4342 0.6752 0.7565 0.6939 0.6664 0.7521 0.8877 0.5530 0.7649 0.4431 0.6740 0.7397 0.6867 hom 2668.78 80 15 89391160 . C A 2668.78 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=33.36;VQSLOD=9.6393;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2702,220,0 15 89392745 89392745 T C exonic ACAN synonymous SNV ACAN:NM_001135:exon10:c.T1809C:p.A603A,ACAN:NM_013227:exon10:c.T1809C:p.A603A 1. 1. 1. 1. 0.98 0.99 0.9910 0.9977 0.9969 1 0.9941 0.9867 0.9926 0.9941 0.99 1. 0.99 1. . rs1568116 . . Benign not_specified RCV000296077.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9902 0.9977 0.9963 0.9851 1 0.9932 0.9846 0.9912 0.9939 0.9885 0.9964 0.9964 0.9868 1 0.9908 0.9814 0.9929 hom 832.51 25 15 89392745 . T C 832.51 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7205;MQ=57.54;MQ0=0;QD=33.30;VQSLOD=7.5618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:866,69,0 15 89398105 89398105 C T exonic ACAN synonymous SNV ACAN:NM_001135:exon12:c.C2289T:p.P763P,ACAN:NM_013227:exon12:c.C2289T:p.P763P 0.35 0.18 0.37 0.21 0.65 0.4 0.5574 0.2729 0.3554 0.2298 0.6022 0.6641 0.5539 0.4952 0.52 0.26 0.65 0.39 . rs2351491 COSM4415410;COSM4415411 1(haematopoietic_and_lymphoid_tissue) . . . . . Height . .06 21998595 rs2351491 2E-9 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5057 0.2192 0.3123 0.6122 0.1780 0.5902 0.6408 0.5300 0.4014 0.4845 0.2364 0.3640 0.6225 0.1803 0.6004 0.6354 0.5357 hom 1018.15 37 15 89398105 . C T 1018.15 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=27.52;VQSLOD=8.5901;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:78.25:1051,78,0 15 89398330 89398330 G A exonic ACAN synonymous SNV ACAN:NM_001135:exon12:c.G2514A:p.S838S,ACAN:NM_013227:exon12:c.G2514A:p.S838S 0.76 0.99 0.65 0.49 0.81 0.74 0.7644 0.9638 0.4953 0.4692 0.7250 0.8225 0.7553 0.7598 0.87 0.96 0.82 0.78 . rs3743399 COSM4128533;COSM4128534 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7432 0.9647 0.5119 0.8236 0.4560 0.7224 0.8229 0.7665 0.7452 0.8139 0.9577 0.5909 0.8477 0.4629 0.7214 0.8047 0.7627 hom 1097.67 31 15 89398330 . G A 1097.67 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.41;VQSLOD=14.4083;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:90.28:1131,90,0 15 89398605 89398605 G T exonic ACAN nonsynonymous SNV ACAN:NM_001135:exon12:c.G2789T:p.S930I,ACAN:NM_013227:exon12:c.G2789T:p.S930I 0.45 0.45 0.39 0.24 0.65 0.52 0.5430 0.4727 0.2977 0.2061 0.5787 0.6439 0.5323 0.5103 0.6 0.49 0.65 0.43 . rs938608 COSM146361;COSM3927718 1(haematopoietic_and_lymphoid_tissue);1(stomach);4(prostate);1(thyroid) . . . . . . . . . . . 0.087 0.324 T 0.967 0.544 D 0.84 0.584 P 0.741 0.098 N 1 0.090 P 1.735 0.450 L 4.52 0.025 T -2.93 0.617 D 0.045 0.075 -0.957 0.398 T 0.000 0.000 T . . . 2.302 0.338 18.18 0.986 0.429 0.079 0.138 N c -0.498 -0.748 0.023 0.135 0.554 0.283 0 -3.45 0.045 -0.650 0.054 0.154 0.240 0.000 0.063 0.011 0.114 1.909 0.031 . . . 0.5321 0.4703 0.3194 0.6120 0.2050 0.5863 0.6432 0.5592 0.5055 0.5553 0.4807 0.3792 0.6291 0.2144 0.6001 0.6331 0.5678 hom 2690.96 83 15 89398605 . G T 2690.96 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.023;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9980;MQ=56.09;MQ0=0;MQRankSum=-1.607;QD=32.42;ReadPosRankSum=1.398;VQSLOD=3.8108;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,82:83:99:2724,195,0 15 89398631 89398631 T A exonic ACAN nonsynonymous SNV ACAN:NM_001135:exon12:c.T2815A:p.S939T,ACAN:NM_013227:exon12:c.T2815A:p.S939T 0.39 0.34 0.38 0.21 0.65 0.4 0.5172 0.3715 0.2909 0.1849 0.5786 0.6426 0.5089 0.4042 0.57 0.39 0.65 0.38 . rs938609 COSM146362;COSM3927719 1(stomach);1(haematopoietic_and_lymphoid_tissue);4(prostate) . . . . . . . . . . . 0.143 0.253 T 0.992 0.629 D 0.779 0.554 P . . . 1.000 0.090 P 2.375 0.686 M -4.28 0.971 D -1.25 0.316 N 0.02 0.010 -0.929 0.444 T 0.000 0.000 T . . . 1.982 0.299 16.10 0.989 0.473 0.062 0.120 N c -0.295 -0.468 0.006 0.110 0.487 0.133 0 1.18 0.200 -0.123 0.105 0.033 0.151 0.000 0.063 0.149 0.205 4.250 0.101 . . . 0.5090 0.3653 0.3124 0.6028 0.1827 0.5868 0.6428 0.5433 0.4008 0.5205 0.3676 0.3720 0.62 0.1825 0.6007 0.6325 0.5439 hom 3544.73 103 15 89398631 . T A 3544.73 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=54.35;MQ0=0;QD=34.41;VQSLOD=6.7593;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3544,292,0 15 89400339 89400339 A C exonic ACAN nonsynonymous SNV ACAN:NM_001135:exon12:c.A4523C:p.E1508A,ACAN:NM_013227:exon12:c.A4523C:p.E1508A 0.42 0.34 0.38 0.25 0.65 0.51 0.5348 0.3727 0.2920 0.2132 0.5791 0.6439 0.5267 0.5107 0.57 0.39 0.65 0.45 . rs2882676 COSM3999672;COSM3999671 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000353807.1 MedGen CN169374 . . . . . . 0.014 0.531 D 0.58 0.369 P 0.304 0.394 B . . . 1 0.090 P . . . -3.51 0.947 D -0.54 0.187 N 0.032 0.123 -0.995 0.313 T 0.000 0.000 T . . . 0.144 0.108 4.077 0.679 0.082 0.052 0.109 N c -0.744 -0.877 0.007 0.114 0.554 0.283 0 -2.06 0.069 1.279 0.326 -0.245 0.091 0.177 0.238 0.041 0.157 5.408 0.155 . . . 0.5258 0.3669 0.3140 0.6043 0.2128 0.5872 0.6445 0.5536 0.5059 0.5268 0.3721 0.3732 0.6258 0.2183 0.6009 0.6368 0.5615 hom 3940.65 124 15 89400339 . A C 3940.65 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7257;MQ=59.33;MQ0=0;QD=31.78;VQSLOD=8.5519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3940,304,0 15 89401109 89401109 A G exonic ACAN nonsynonymous SNV ACAN:NM_001135:exon12:c.A5293G:p.I1765V,ACAN:NM_013227:exon12:c.A5293G:p.I1765V 0.76 0.99 0.65 0.49 0.81 0.75 0.7596 0.9637 0.4848 0.4607 0.7225 0.8228 0.7533 0.7462 0.87 0.96 0.82 0.78 . rs4932439 COSM4415717;COSM4415718 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.007 0.161 B 0.007 0.139 B 0.915 0.085 N 1 0.090 P . . . 4.76 0.020 T 0.21 0.053 N 0.017 0.003 -1.009 0.271 T 0.000 0.000 T . . . -1.155 0.026 0.008 0.338 0.020 0.017 0.054 N c -0.944 -0.866 0.006 0.112 0.554 0.283 0 1.82 0.241 0.058 0.141 0.138 0.222 0.011 0.184 0.994 0.587 6.057 0.189 . . . 0.7448 0.9649 0.5115 0.8360 0.4600 0.7221 0.8238 0.7704 0.7456 0.8151 0.9579 0.5913 0.8609 0.4688 0.7219 0.8056 0.7638 hom 3568.70 102 15 89401109 . A G 3568.70 Mask AC=2;AF=1.00;AN=2;DP=102;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4359;MQ=58.91;MQ0=0;QD=34.99;VQSLOD=8.6186;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3568,286,0 15 89401615 89401615 T G exonic ACAN synonymous SNV ACAN:NM_001135:exon12:c.T5799G:p.T1933T,ACAN:NM_013227:exon12:c.T5799G:p.T1933T 0.53 0.36 0.59 0.54 0.73 0.51 0.6399 0.4120 0.4974 0.5151 0.6733 0.7446 0.6267 0.5036 0.65 0.44 0.75 0.52 . rs3825994 COSM3999673;COSM3999674 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6368 0.4018 0.5090 0.7141 0.5164 0.6783 0.7466 0.6566 0.5037 0.6195 0.4083 0.5658 0.7119 0.5243 0.6829 0.7376 0.6357 hom 2623.67 86 15 89401615 . T G 2623.67 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5115;MQ=59.73;MQ0=0;QD=30.51;VQSLOD=9.1546;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:86:99:2657,214,0 15 89402051 89402051 A G exonic ACAN nonsynonymous SNV ACAN:NM_001135:exon12:c.A6235G:p.I2079V,ACAN:NM_013227:exon12:c.A6235G:p.I2079V 0.65 0.68 0.62 0.56 0.74 0.61 0.6819 0.6996 0.5115 0.5384 0.6730 0.7464 0.6570 0.6099 0.73 0.7 0.75 0.62 . rs1042630 COSM3927720;COSM146363 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(skin);4(prostate) . . . . . . . . . . . 0.539 0.068 T 0.023 0.176 B 0.026 0.195 B 0.050 0.020 N 1 0.090 P 0.425 0.126 N 4.65 0.023 T -0.19 0.123 N 0.023 0.013 -0.962 0.389 T 0.000 0.000 T . . . -3.838 0.000 0.001 0.160 0.004 0.050 0.106 N c -1.803 -1.906 1.000 0.473 0.554 0.283 0 -9.69 0.004 -1.433 0.025 -0.818 0.031 0.000 0.063 0.362 0.248 1.995 0.032 . . . 0.6740 0.7014 0.5252 0.7235 0.5402 0.6786 0.7481 0.6790 0.6089 0.7074 0.7062 0.5871 0.7185 0.5571 0.6839 0.7387 0.6694 hom 1085.31 37 15 89402051 . A G 1085.31 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;QD=29.33;VQSLOD=8.6923;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:93.26:1118,93,0 15 89402239 89402239 T C exonic ACAN synonymous SNV ACAN:NM_001135:exon12:c.T6423C:p.L2141L,ACAN:NM_013227:exon12:c.T6423C:p.L2141L 0.74 0.85 0.68 0.61 0.79 0.69 0.7405 0.8476 0.5607 0.5816 0.7131 0.7942 0.7167 0.6812 0.81 0.85 0.8 0.69 . rs1042631 COSM3999675;COSM147970 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7303 0.8515 0.5722 0.7860 0.5841 0.7126 0.7953 0.7447 0.6814 0.7805 0.8451 0.6456 0.7947 0.6027 0.7128 0.7873 0.7469 hom 5386.15 176 15 89402239 . T C 5386.15 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;QD=30.60;VQSLOD=9.5875;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5385,424,0 15 89417238 89417238 A G exonic ACAN nonsynonymous SNV ACAN:NM_013227:exon17:c.A7499G:p.Q2500R 0.41 0.76 0.29 0.26 0.24 0.34 0.2928 0.6984 0.2832 0.2512 0.1853 0.2369 0.2765 0.3478 0.4 0.68 0.25 0.48 . rs1126823 COSM4128547;COSM4128546 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.011 0.296 N 1.000 0.588 P . . . -0.14 0.650 T 2.11 0.004 N 0.039 0.308 -0.938 0.430 T 0.000 0.000 T . . . 1.071 0.197 11.06 0.691 0.086 0.190 0.203 N c -0.557 -0.393 0.267 0.188 0.487 0.133 0 2.92 0.329 2.024 0.404 0.138 0.222 1.000 0.715 0.996 0.625 11.127 0.474 Sushi/SCR/CCP domain ENSG00000140545.10 Esophagus_Mucosa 0.2849 0.7053 0.2823 0.2674 0.2451 0.1851 0.2379 0.2836 0.3467 0.3550 0.6873 0.2924 0.3377 0.2708 0.1735 0.2220 0.2835 het 455.40 45 15 89417238 . A G 455.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.475;DP=45;Dels=0.00;FS=2.781;HRun=1;HaplotypeScore=2.9929;MQ=58.75;MQ0=0;MQRankSum=2.074;QD=10.12;ReadPosRankSum=0.730;VQSLOD=5.6120;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,18:45:99:485,0,702 15 89421327 89421327 A G exonic HAPLN3 synonymous SNV HAPLN3:NM_178232:exon5:c.T957C:p.G319G,HAPLN3:NM_001307952:exon6:c.T1143C:p.G381G 0.44 0.81 0.32 0.26 0.29 0.35 0.3399 0.7546 0.3130 0.2407 0.2366 0.2985 0.3186 0.3594 0.46 0.75 0.31 0.51 0.3 rs2280463 COSM1749363 1(urinary_tract);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3305 0.7636 0.3171 0.3154 0.2363 0.2410 0.3010 0.3329 0.3583 0.4083 0.7480 0.3225 0.3808 0.2612 0.2276 0.2802 0.3092 het 2227.66 198 15 89421327 . A G 2227.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.011;DP=198;Dels=0.00;FS=3.116;HRun=0;HaplotypeScore=2.3249;MQ=58.86;MQ0=0;MQRankSum=0.260;QD=11.25;ReadPosRankSum=0.698;VQSLOD=6.0241;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:117,81:198:99:2258,0,3069 15 89421405 89421405 G A exonic HAPLN3 synonymous SNV HAPLN3:NM_178232:exon5:c.C879T:p.I293I,HAPLN3:NM_001307952:exon6:c.C1065T:p.I355I 0.17 0.18 0.2 0.11 0.22 0.18 0.1912 0.1930 0.1898 0.0983 0.1556 0.2048 0.2126 0.1978 0.21 0.2 0.22 0.21 0.22 rs7182726 COSM1129067 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1912 0.1921 0.1892 0.2423 0.0970 0.1546 0.2066 0.2090 0.1971 0.1818 0.1883 0.1859 0.2980 0.1128 0.1418 0.1921 0.1834 het 3025.15 250 15 89421405 . G A 3025.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.638;DP=250;DS;Dels=0.00;FS=0.471;HRun=1;HaplotypeScore=11.7520;MQ=59.22;MQ0=0;MQRankSum=0.518;QD=12.10;ReadPosRankSum=1.169;VQSLOD=3.8028;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:143,107:250:99:3055,0,3583 15 89430506 89430506 C T exonic HAPLN3 synonymous SNV HAPLN3:NM_178232:exon2:c.G24A:p.P8P,HAPLN3:NM_001307952:exon3:c.G210A:p.P70P 0.2 0.18 0.22 0.22 0.25 0.16 0.2329 0.1871 0.2510 0.2168 0.2456 0.2515 0.2386 0.1774 0.24 0.19 0.26 0.24 0.19 rs3743395 COSM4128548 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2359 0.1845 0.2534 0.2515 0.2127 0.2428 0.2541 0.2503 0.1770 0.2272 0.1895 0.2518 0.2914 0.2361 0.2370 0.2425 0.2382 het 384.10 36 15 89430506 . C T 384.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.695;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;MQRankSum=0.449;QD=10.67;ReadPosRankSum=-1.251;VQSLOD=6.4300;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:36:99:414,0,530 15 89450546 89450546 C T exonic MFGE8 synonymous SNV MFGE8:NM_001310319:exon2:c.G135A:p.S45S,MFGE8:NM_001114614:exon3:c.G267A:p.S89S,MFGE8:NM_005928:exon3:c.G267A:p.S89S,MFGE8:NM_001310320:exon4:c.G243A:p.S81S 0.63 0.8 0.61 0.46 0.63 0.58 0.6150 0.7813 0.5904 0.4437 0.5173 0.6294 0.5751 0.5999 0.69 0.78 0.65 0.73 0.63 rs1878327 COSM147973 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6106 0.7758 0.5980 0.6625 0.4356 0.5226 0.6344 0.6098 0.6009 0.6390 0.7764 0.6372 0.7086 0.4435 0.5200 0.6098 0.5879 hom 3817.61 124 15 89450546 . C T 3817.61 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.145;DP=124;Dels=0.00;FS=3.909;HRun=0;HaplotypeScore=6.3805;MQ=59.25;MQ0=0;MQRankSum=-1.285;QD=30.79;ReadPosRankSum=0.670;VQSLOD=3.8333;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,123:124:99:3784,270,0 15 89450587 89450587 G T exonic MFGE8 nonsynonymous SNV MFGE8:NM_001310319:exon2:c.C94A:p.L32M,MFGE8:NM_001114614:exon3:c.C226A:p.L76M,MFGE8:NM_005928:exon3:c.C226A:p.L76M,MFGE8:NM_001310320:exon4:c.C202A:p.L68M 0.64 0.8 0.62 0.46 0.64 0.62 0.6218 0.7828 0.5935 0.4405 0.5174 0.6331 0.5793 0.6335 0.7 0.78 0.65 0.76 0.64 rs1878326 COSM147974 1(breast);1(stomach) . . . . . . . . . . . 1.0 0.010 T 0.01 0.144 B 0.016 0.166 B 0.000 0.843 N 1.000 0.227 P . . . -4.29 0.972 D 1.13 0.022 N 0.054 0.191 -0.919 0.458 T 0.000 0.000 T . . . -0.827 0.039 0.037 0.088 0.001 0.117 0.166 N c -0.738 -0.604 1.000 0.747 0.722 0.854 0 4.18 0.483 2.728 0.467 0.152 0.238 1.000 0.715 0.816 0.342 8.268 0.308 Coagulation factor 5/8 C-terminal domain|Galactose-binding domain-like . . 0.6163 0.7770 0.6000 0.6594 0.4313 0.5232 0.6383 0.6135 0.6320 0.6400 0.7771 0.6376 0.7020 0.4369 0.5203 0.6123 0.5893 hom 3811.26 130 15 89450587 . G T 3811.26 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.705;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7329;MQ=59.39;MQ0=0;MQRankSum=-0.658;QD=29.32;ReadPosRankSum=-1.061;VQSLOD=8.3074;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,129:130:99:3771,262,0 15 89804043 89804043 C T exonic FANCI nonsynonymous SNV FANCI:NM_001113378:exon4:c.C257T:p.A86V,FANCI:NM_018193:exon4:c.C257T:p.A86V 0.26 0.039 0.35 0.3 0.38 0.33 0.3569 0.0869 0.3704 0.3145 0.4646 0.3854 0.3844 0.3800 0.29 0.095 0.38 0.21 0.28 rs17803620 COSM3754558;COSM3754557 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign not_specified|Fanconi_anemia RCV000247561.1|RCV000262235.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0015625:ORPHA84:30575002 . . . . . . 0.339 0.279 T 0.191 0.412 B 0.055 0.255 B 0.000 0.629 D 4.579e-07 0.810 P 2.215 0.627 M 0.95 0.433 T -0.71 0.650 N 0.1 0.463 -0.962 0.389 T 0.000 0.000 T . . . 3.818 0.516 23.4 0.989 0.485 0.905 0.514 D c -0.055 0.097 1.000 0.517 0.707 0.730 0 4.45 0.532 2.059 0.408 0.935 0.490 0.998 0.411 0.984 0.507 9.614 0.387 FANCI solenoid 1 domain ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3622 0.0797 0.3631 0.3778 0.3175 0.4608 0.3810 0.3587 0.3829 0.3184 0.0916 0.3365 0.3907 0.3213 0.4570 0.4104 0.3951 hom 4502.59 149 15 89804043 . C T 4502.59 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.01;MQ0=0;QD=30.22;VQSLOD=9.0578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4502,355,0 15 89836228 89836228 G C exonic FANCI nonsynonymous SNV FANCI:NM_001113378:exon22:c.G2225C:p.C742S,FANCI:NM_018193:exon22:c.G2225C:p.C742S 0.27 0.039 0.35 0.31 0.38 0.34 0.3623 0.0874 0.3731 0.3258 0.4659 0.3906 0.3907 0.3890 0.29 0.095 0.39 0.21 0.26 rs2283432 COSM1179764;COSM1179763 1(haematopoietic_and_lymphoid_tissue);14(soft_tissue);1(liver);1(prostate);1(thyroid);1(large_intestine) Benign|Benign not_specified|Fanconi_anemia RCV000250359.1|RCV000339014.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0015625:ORPHA84:30575002 . . . . . . 0.498 0.078 T 0.007 0.390 B 0.006 0.317 B 0.000 0.629 N 0.030 0.434 P 1.95 0.526 M 1.63 0.280 T -0.96 0.346 N 0.149 0.363 -0.901 0.480 T 0.000 0.000 T . . . 1.945 0.295 15.87 0.870 0.164 0.964 0.688 D c 0.144 0.305 1.000 0.747 0.732 0.924 0 4.89 0.632 4.962 0.632 1.048 0.713 1.000 0.715 0.995 0.604 3.907 0.086 FANCI helical domain 2 ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7|ENSG00000140521.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3666 0.0798 0.3662 0.3793 0.3261 0.4625 0.3853 0.3644 0.3911 0.3209 0.0924 0.3401 0.3907 0.3243 0.4590 0.4137 0.3996 hom 2661.75 85 15 89836228 . G C 2661.75 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=31.31;VQSLOD=8.8759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2695,205,0 15 89858602 89858602 T C exonic FANCI synonymous SNV FANCI:NM_018193:exon36:c.T3726C:p.G1242G,FANCI:NM_001113378:exon37:c.T3906C:p.G1302G 0.41 0.47 0.39 0.43 0.4 0.35 0.4123 0.4419 0.3994 0.4291 0.5079 0.4000 0.4229 0.4042 0.41 0.44 0.4 0.45 0.29 rs1138465 COSM3754561;COSM3754560 14(soft_tissue);1(large_intestine) Benign|Likely benign|Benign not_specified|POLG-Related_Spectrum_Disorders|Fanconi_anemia RCV000251297.1|RCV000329693.1|RCV000348737.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN169374|CN239393|C0015625:ORPHA84:30575002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4101 0.4380 0.393 0.3915 0.4264 0.5036 0.3934 0.3999 0.4061 0.4372 0.4436 0.3768 0.3933 0.4398 0.5040 0.4220 0.4337 hom 4816.22 164 15 89858602 . T C 4816.22 Mask AC=2;AF=1.00;AN=2;DP=164;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4291;MQ=58.98;MQ0=0;QD=29.37;VQSLOD=7.3653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:4815,427,0 15 90126121 90126121 C T exonic TICRR nonsynonymous SNV TICRR:NM_001308025:exon2:c.C859T:p.R287C,TICRR:NM_152259:exon2:c.C859T:p.R287C 0.39 0.24 0.43 0.31 0.56 0.46 0.5120 0.2943 0.4010 0.3225 0.6144 0.5848 0.5167 0.4823 0.48 0.29 0.57 0.41 0.52 rs10775247 . . . . . . . . . . . . . 0.512 0.133 T 0.004 0.112 B 0.0 0.013 B 0.008 0.313 N 0.951 0.265 P -1.52 0.005 N 2.68 0.124 T 3.82 0.001 N 0.053 0.135 -1.014 0.257 T 0.000 0.000 T . . . 0.860 0.176 9.827 0.817 0.134 0.113 0.163 N c -1.359 -1.201 1.000 0.424 0.707 0.730 0 -2.11 0.068 0.436 0.211 -0.780 0.033 0.993 0.376 0.979 0.486 7.220 0.250 Treslin\x2c N-terminal ENSG00000140534.9 Cells_Transformed_fibroblasts 0.5078 0.2875 0.4066 0.5373 0.3193 0.6125 0.5822 0.5166 0.4766 0.4860 0.2905 0.4424 0.5132 0.3399 0.6005 0.5860 0.5573 het 1492.25 135 15 90126121 . C T 1492.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.915;DP=135;Dels=0.00;FS=3.368;HRun=0;HaplotypeScore=3.4088;MQ=58.86;MQ0=0;MQRankSum=2.054;QD=11.05;ReadPosRankSum=-0.204;VQSLOD=5.5337;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,58:135:99:1522,0,1903 15 90128966 90128966 C T exonic TICRR nonsynonymous SNV TICRR:NM_001308025:exon4:c.C1201T:p.R401W,TICRR:NM_152259:exon4:c.C1204T:p.R402W 0.36 0.29 0.38 0.23 0.51 0.42 0.4588 0.3352 0.3600 0.2356 0.5689 0.5143 0.4567 0.4492 0.44 0.33 0.5 0.35 0.5 rs11629584 COSM147976 1(stomach);1(prostate) . . . . . . . . . . . 0.499 0.086 T 0.0 0.026 B 0.0 0.013 B 0.121 0.190 N 1.000 0.201 P -2.505 0.001 N 2.68 0.124 T 3.95 0.001 N 0.114 0.305 -0.973 0.365 T 0.000 0.000 T . . . 3.582 0.488 23.2 0.986 0.426 0.049 0.105 N c -0.753 -0.462 1.000 0.517 0.707 0.730 0 5.25 0.731 1.759 0.378 0.133 0.217 0.975 0.345 0.985 0.512 9.935 0.405 Treslin\x2c N-terminal ENSG00000140534.9 Cells_Transformed_fibroblasts 0.4537 0.3327 0.3649 0.4644 0.2326 0.5605 0.5114 0.4605 0.4436 0.4503 0.3363 0.3969 0.4437 0.2577 0.5447 0.5161 0.4878 het 626.86 54 15 90128966 . C T 626.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.047;DP=54;Dels=0.00;FS=1.335;HRun=0;HaplotypeScore=4.6250;MQ=58.96;MQ0=0;MQRankSum=0.210;QD=11.61;ReadPosRankSum=1.644;VQSLOD=5.2232;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:657,0,830 15 90138670 90138670 C T exonic TICRR synonymous SNV TICRR:NM_001308025:exon7:c.C1725T:p.C575C,TICRR:NM_152259:exon7:c.C1728T:p.C576C 0.76 0.65 0.75 0.73 0.89 0.82 0.8479 0.6905 0.6936 0.7026 0.8846 0.9080 0.8878 0.8662 0.84 0.7 0.91 0.69 0.85 rs8042146 COSM147977 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8437 0.6861 0.7054 0.8410 0.6991 0.8866 0.9143 0.8549 0.8654 0.8307 0.6830 0.7279 0.8344 0.6828 0.8815 0.9239 0.8676 hom 3632.02 119 15 90138670 . C T 3632.02 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=30.52;VQSLOD=9.2201;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3632,295,0 15 90168108 90168108 C T exonic TICRR nonsynonymous SNV TICRR:NM_001308025:exon20:c.C4564T:p.R1522C,TICRR:NM_152259:exon20:c.C4567T:p.R1523C 0.85 0.98 0.79 0.72 0.9 0.82 0.8677 0.9614 0.7079 0.6811 0.8835 0.9045 0.8982 0.8619 0.92 0.96 0.91 0.84 0.89 rs894157 COSM147978 1(stomach) . . . . . Obesity-related traits . .03 23251661 rs894157 9E-6 0.241 0.176 T 0.0 0.026 B 0.0 0.013 B 0.609 0.109 N 1 0.090 P -0.69 0.019 N 3.13 0.080 T 0.78 0.019 N 0.02 0.035 -1.043 0.165 T 0.000 0.000 T . . . 1.694 0.265 14.37 0.485 0.040 0.003 0.016 N c -1.387 -1.306 0.776 0.237 0.672 0.522 0 2.63 0.303 2.968 0.487 -0.232 0.094 0.069 0.218 0.000 0.016 6.427 0.208 . ENSG00000166813.10 Cells_Transformed_fibroblasts 0.8595 0.9642 0.7205 0.8405 0.6782 0.8852 0.9109 0.8698 0.8610 0.9065 0.9593 0.7470 0.8377 0.6671 0.8804 0.9197 0.8822 hom 7547.98 228 15 90168108 . C T 7547.98 Mask AC=2;AF=1.00;AN=2;DP=228;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9770;MQ=59.55;MQ0=0;QD=33.11;VQSLOD=9.2417;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,228:228:99:7547,587,0 15 90168171 90168171 C T exonic TICRR nonsynonymous SNV TICRR:NM_001308025:exon20:c.C4627T:p.P1543S,TICRR:NM_152259:exon20:c.C4630T:p.P1544S 0.0002 . 0.0014 . . . 0.0010 0.0003 0.0010 0 0 0.0015 0 0.0004 0.0012 0.0005 0.0015 . 0.0082 rs144798110 . . . . . . . . . . . . . 0.228 0.185 T 0.131 0.256 B 0.023 0.188 B 0.187 0.032 N 1 0.090 N 1.01 0.254 L 3.06 0.087 T -0.1 0.085 N 0.041 0.030 -0.970 0.373 T 0.017 0.069 T 0.004 0.110 T -0.624 0.049 0.109 0.362 0.023 0.220 0.214 N c -1.377 -1.437 0.808 0.243 0.672 0.522 0 -2.84 0.054 0.297 0.187 0.069 0.176 0.000 0.063 0.000 0.016 7.062 0.242 . . . 0.0010 0.0002 0.0010 0.0046 0 4.485e-05 0.0013 0.0016 0.0004 0.0010 0.0003 0 0.01 0 0 0.0017 0 het 2224.27 196 15 90168171 . C T 2224.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.667;DP=196;Dels=0.00;FS=1.798;HRun=0;HaplotypeScore=1.9025;MQ=59.79;MQ0=0;MQRankSum=-0.271;QD=11.35;ReadPosRankSum=0.945;VQSLOD=4.8412;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:105,91:196:99:2254,0,2799 15 90168693 90168693 T A exonic TICRR nonsynonymous SNV TICRR:NM_001308025:exon20:c.T5149A:p.S1717T,TICRR:NM_152259:exon20:c.T5152A:p.S1718T 0.39 0.47 0.33 0.4 0.34 0.36 0.3355 0.4172 0.3007 0.3560 0.2717 0.3240 0.3673 0.3678 0.36 0.41 0.34 0.32 0.32 rs1866928 COSM3754562 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.507 0.076 T 0.025 0.179 B 0.002 0.063 B 0.694 0.062 N 1 0.090 P 0 0.065 N 3.13 0.080 T -0.18 0.098 N 0.032 0.199 -0.919 0.458 T 0.000 0.000 T . . . -0.848 0.038 0.034 0.724 0.097 0.160 0.190 N c -1.340 -1.290 0.550 0.213 0.672 0.522 0 0.722 0.173 0.157 0.161 -1.024 0.021 0.001 0.137 0.002 0.062 5.156 0.143 . ENSG00000140534.9 Cells_Transformed_fibroblasts 0.3349 0.4221 0.3071 0.3008 0.3543 0.2748 0.3323 0.3446 0.3727 0.3523 0.4153 0.2983 0.3212 0.3179 0.2823 0.3417 0.3176 het 829.37 71 15 90168693 . T A 829.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.887;DP=71;Dels=0.00;FS=0.893;HRun=0;HaplotypeScore=0.8941;MQ=59.68;MQ0=0;MQRankSum=0.446;QD=11.68;ReadPosRankSum=0.458;VQSLOD=6.8166;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,31:71:99:859,0,1114 15 90170237 90170237 C T exonic TICRR nonsynonymous SNV TICRR:NM_001308025:exon22:c.C5650T:p.R1884C,TICRR:NM_152259:exon22:c.C5653T:p.R1885C 0.27 0.051 0.28 0.4 0.33 0.35 0.3020 0.0839 0.2765 0.3558 0.2717 0.3203 0.3502 0.3646 0.25 0.086 0.33 0.17 0.29 rs3743372 COSM3754563 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.035 0.437 D 0.998 0.715 D 0.804 0.565 P 0.391 0.132 N 0.605 0.309 P 2.19 0.618 M 3.02 0.090 T -2.39 0.526 N 0.089 0.404 -0.904 0.476 T 0.000 0.000 T . . . 6.482 0.894 30 0.999 0.981 0.483 0.279 N c 0.165 0.067 0.876 0.255 0.707 0.730 0 3.49 0.389 1.021 0.294 0.935 0.490 0.435 0.262 0.420 0.257 8.464 0.319 . ENSG00000140534.9 Cells_Transformed_fibroblasts 0.3072 0.0779 0.2806 0.2990 0.3547 0.2754 0.3287 0.3191 0.3693 0.2580 0.0906 0.2721 0.3212 0.3161 0.2828 0.3388 0.2980 het 4322.36 243 15 90170237 . C T 4322.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.889;DP=243;DS;Dels=0.00;FS=1.719;HRun=1;HaplotypeScore=6.6390;MQ=59.56;MQ0=0;MQRankSum=2.314;QD=17.79;ReadPosRankSum=-0.380;VQSLOD=3.4376;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:112,131:243:99:3671,0,2842 15 90174789 90174789 C T exonic KIF7 synonymous SNV KIF7:NM_198525:exon15:c.G3048A:p.S1016S 0.45 0.44 0.45 0.32 0.56 0.48 0.5270 0.4974 0.4398 0.3702 0.5650 0.5706 0.5085 0.5081 0.54 0.49 0.57 0.51 0.34 rs9672286 COSM3932192;COSM3932193 1(urinary_tract) other|Benign not_specified|Acrocallosal_syndrome\x2c_Schinzel_type RCV000082817.8|RCV000274985.1 MedGen|Gene:MedGen:OMIM:Orphanet CN169374|46:C0796147:200990:ORPHA36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4941 0.4489 0.3991 0.5305 0.2983 0.5938 0.5496 0.4966 0.4813 0.5418 0.4920 0.4451 0.5166 0.3481 0.5997 0.5825 0.5663 het 240.24 18 15 90174789 . C T 240.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.177;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=13.35;ReadPosRankSum=-0.725;VQSLOD=11.7102;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,11:18:99:270,0,153 15 90174824 90174824 C T exonic KIF7 nonsynonymous SNV KIF7:NM_198525:exon15:c.G3013A:p.G1005R 0.44 0.4 0.45 0.32 0.56 0.48 0.5128 0.4633 0.4272 0.3305 0.5489 0.5572 0.5074 0.5086 0.53 0.46 0.57 0.48 0.19 rs12900805 . . other|Benign not_specified|Acrocallosal_syndrome\x2c_Schinzel_type RCV000082815.8|RCV000332349.1 MedGen|Gene:MedGen:OMIM:Orphanet CN169374|46:C0796147:200990:ORPHA36 . . . . . . 0.233 0.181 T 0.004 0.112 B 0.004 0.093 B 0.060 0.223 N 1 0.090 P 0.69 0.170 N 0.94 0.437 T -0.15 0.093 N 0.011 0.001 -0.912 0.466 T 0.000 0.000 T . . . 1.330 0.224 12.42 0.938 0.232 0.595 0.307 D c -1.216 -1.136 0.934 0.271 0.672 0.522 0 -0.473 0.115 1.193 0.316 -0.332 0.074 0.684 0.282 0.232 0.224 9.049 0.353 . ENSG00000140534.9 Cells_Transformed_fibroblasts 0.4995 0.4226 0.4049 0.5329 0.3060 0.6030 0.5589 0.4975 0.4873 0.5315 0.4555 0.4427 0.5166 0.3481 0.5995 0.5827 0.5653 het 122.64 15 15 90174824 . C T 122.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.355;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=0.530;QD=8.18;ReadPosRankSum=-0.295;VQSLOD=5.6305;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,6:15:99:153,0,227 15 90176432 90176432 T G exonic KIF7 synonymous SNV KIF7:NM_198525:exon13:c.A2658C:p.A886A 0.79 0.76 0.77 0.73 0.89 0.82 0.8618 0.7917 0.7181 0.7193 0.8813 0.9101 0.8971 0.8686 0.87 0.79 0.91 0.5 0.59 rs3803531 COSM147979 1(stomach) other|Benign not_specified|Acrocallosal_syndrome\x2c_Schinzel_type RCV000117420.4|RCV000373784.1 MedGen|Gene:MedGen:OMIM:Orphanet CN169374|46:C0796147:200990:ORPHA36 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8500 0.7795 0.7134 0.8425 0.7004 0.8807 0.9156 0.8627 0.8655 0.8601 0.7832 0.7315 0.8377 0.6845 0.8815 0.9254 0.8753 hom 597.25 18 15 90176432 . T G 597.25 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.64;MQ0=0;QD=33.18;VQSLOD=9.0331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:51.15:630,51,0 15 90210257 90210257 G A exonic PLIN1 synonymous SNV PLIN1:NM_001145311:exon8:c.C1119T:p.V373V,PLIN1:NM_002666:exon8:c.C1119T:p.V373V 0.28 0.16 0.22 0.35 0.31 0.4 0.2877 0.1749 0.1695 0.3049 0.1992 0.3032 0.2960 0.4044 0.27 0.18 0.31 0.16 0.28 rs2304796 COSM4418469 1(haematopoietic_and_lymphoid_tissue) Likely benign not_specified RCV000117992.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2840 0.1721 0.1803 0.3568 0.3066 0.2031 0.3035 0.2871 0.4040 0.2530 0.1702 0.2266 0.3709 0.2965 0.2171 0.3028 0.2725 het 974.82 80 15 90210257 . G A 974.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.565;DP=80;Dels=0.00;FS=9.514;HRun=1;HaplotypeScore=0.9933;MQ=59.14;MQ0=0;MQRankSum=1.341;QD=12.19;ReadPosRankSum=1.037;VQSLOD=4.3741;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,37:80:99:1005,0,1260 15 90210263 90210263 A G exonic PLIN1 synonymous SNV PLIN1:NM_001145311:exon8:c.T1113C:p.P371P,PLIN1:NM_002666:exon8:c.T1113C:p.P371P 0.4 0.37 0.37 0.31 0.39 0.54 0.3797 0.3890 0.3356 0.2876 0.3428 0.3672 0.4035 0.5160 0.38 0.4 0.37 0.29 0.36 rs2304795 . . Likely benign not_specified RCV000117991.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3791 0.3970 0.3421 0.3903 0.2873 0.3414 0.3705 0.3785 0.5169 0.3683 0.3846 0.3765 0.4040 0.2714 0.3479 0.3727 0.3691 het 1039.13 79 15 90210263 . A G 1039.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.368;DP=79;Dels=0.00;FS=5.945;HRun=4;HaplotypeScore=4.8487;MQ=59.13;MQ0=0;MQRankSum=0.309;QD=13.15;ReadPosRankSum=0.476;VQSLOD=4.8037;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,38:79:99:1069,0,1217 15 90213229 90213229 G C exonic PLIN1 nonsynonymous SNV PLIN1:NM_001145311:exon5:c.C580G:p.P194A,PLIN1:NM_002666:exon5:c.C580G:p.P194A 0.9 0.98 0.84 0.76 0.99 0.87 0.9382 0.9752 0.7562 0.7375 0.9458 0.9966 0.9554 0.9049 0.99 0.97 1. 0.97 0.92 rs6496589 COSM5002355 1(pancreas) Likely benign not_specified RCV000117994.2 MedGen CN169374 . . . . . . 0.71 0.040 T 0.002 0.090 B 0.019 0.176 B 0.121 0.190 N 1 0.090 P 1.935 0.520 L 3.37 0.059 T -0.1 0.085 N 0.046 0.026 -0.938 0.430 T 0.000 0.000 T . . . -1.528 0.016 0.002 0.277 0.014 0.050 0.106 N c -0.771 -0.693 0.996 0.344 0.581 0.326 0 3.11 0.347 0.508 0.222 0.031 0.150 0.062 0.216 0.701 0.310 9.639 0.388 . . . 0.9294 0.9763 0.7707 0.9959 0.7345 0.9517 0.9979 0.9501 0.9040 0.9640 0.9727 0.8067 1 0.7261 0.9490 0.9963 0.9633 hom 1304.90 43 15 90213229 . G C 1304.90 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=30.35;VQSLOD=8.8867;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1338,105,0 15 90226947 90226947 C A exonic PEX11A synonymous SNV PEX11A:NM_001271572:exon3:c.G312T:p.L104L,PEX11A:NM_003847:exon3:c.G405T:p.L135L 0.51 0.54 0.49 0.29 0.7 0.49 0.6206 0.5813 0.4682 0.3031 0.6772 0.7199 0.6244 0.4942 0.67 0.58 0.71 0.55 0.67 rs7169981 COSM3999679 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6132 0.5804 0.4828 0.6993 0.3026 0.6742 0.7172 0.6435 0.4914 0.6415 0.5868 0.5298 0.7053 0.3125 0.6646 0.7061 0.6776 hom 7988.23 242 15 90226947 . C A 7988.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=242;DS;Dels=0.00;FS=3.194;HRun=1;HaplotypeScore=5.4229;MQ=59.15;MQ0=0;MQRankSum=0.544;QD=33.01;ReadPosRankSum=0.988;VQSLOD=4.3352;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,241:242:99:7948,586,0 15 90245174 90245174 T A exonic WDR93 nonsynonymous SNV WDR93:NM_001284395:exon2:c.T197A:p.L66H,WDR93:NM_001284396:exon2:c.T197A:p.L66H,WDR93:NM_020212:exon2:c.T197A:p.L66H 0.39 0.51 0.36 0.21 0.4 0.44 0.4089 0.5011 0.3462 0.2145 0.2931 0.4403 0.3675 0.4180 0.46 0.49 0.45 0.5 0.45 rs4287542 . . . . . . . . . . . . . 0.557 0.065 T 0.01 0.202 B 0.01 0.184 B 0.235 0.158 N 1 0.090 P 1.795 0.474 L 1.97 0.437 T -0.62 0.338 N 0.071 0.179 -0.927 0.446 T 0.000 0.000 T . . . -0.564 0.052 0.153 0.719 0.095 0.030 0.077 N c -1.076 -1.050 0.000 0.041 0.554 0.283 0 0.074 0.136 0.055 0.140 0.086 0.193 0.040 0.208 0.792 0.334 1.699 0.027 . ENSG00000166823.5|ENSG00000140527.10|ENSG00000140527.10 Esophagus_Mucosa|Testis|Thyroid 0.4031 0.5020 0.3551 0.4483 0.2146 0.2943 0.4474 0.4006 0.4157 0.4217 0.5002 0.3759 0.4603 0.2249 0.2942 0.4307 0.3922 hom 2551.86 81 15 90245174 . T A 2551.86 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=31.50;VQSLOD=8.8938;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2585,208,0 15 90245253 90245253 C T exonic WDR93 synonymous SNV WDR93:NM_001284395:exon2:c.C276T:p.T92T,WDR93:NM_001284396:exon2:c.C276T:p.T92T,WDR93:NM_020212:exon2:c.C276T:p.T92T 0.4 0.52 0.36 0.21 0.4 0.44 0.4097 0.5142 0.3450 0.2132 0.2925 0.4398 0.3673 0.4200 0.47 0.5 0.45 0.49 0.44 rs4316730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4031 0.5149 0.3546 0.4484 0.2136 0.2941 0.4467 0.3997 0.4153 0.4254 0.5137 0.3759 0.4603 0.2244 0.2936 0.4305 0.3951 hom 1071.94 33 15 90245253 . C T 1071.94 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=32.48;VQSLOD=8.5760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:87.27:1105,87,0 15 90246336 90246336 A G exonic WDR93 synonymous SNV WDR93:NM_001284395:exon3:c.A459G:p.L153L,WDR93:NM_001284396:exon3:c.A459G:p.L153L,WDR93:NM_020212:exon3:c.A459G:p.L153L 0.39 0.51 0.36 0.21 0.4 0.44 0.4092 0.5014 0.3475 0.2149 0.2929 0.4406 0.3689 0.4182 0.46 0.49 0.45 0.5 0.47 rs16974175 COSM3754566 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4035 0.5024 0.3562 0.4482 0.2152 0.2944 0.4477 0.4009 0.4162 0.4215 0.5009 0.3774 0.4603 0.2259 0.2936 0.4296 0.3955 hom 7299.01 238 15 90246336 . A G 7299.01 Mask AC=2;AF=1.00;AN=2;DP=238;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.5830;MQ=59.37;MQ0=0;QD=30.67;VQSLOD=9.1817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,238:238:99:7298,548,0 15 90248819 90248819 A T exonic WDR93 synonymous SNV WDR93:NM_001284395:exon4:c.A531T:p.G177G,WDR93:NM_020212:exon4:c.A531T:p.G177G 0.54 0.68 0.51 0.21 0.62 0.61 0.5892 0.6895 0.4499 0.2153 0.4701 0.6459 0.5903 0.6379 0.67 0.68 0.66 0.66 0.42 rs17238056 COSM3754567 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5837 0.6881 0.4665 0.7224 0.2152 0.4738 0.6555 0.6021 0.6380 0.6090 0.6955 0.5155 0.7233 0.2259 0.4848 0.6360 0.5480 hom 2174.91 83 15 90248819 . A T 2174.91 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9048;MQ=59.48;MQ0=0;QD=26.20;VQSLOD=6.3258;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:83:99:2208,169,0 15 90260145 90260145 T A exonic WDR93 nonsynonymous SNV WDR93:NM_001284395:exon7:c.T760A:p.S254T,WDR93:NM_020212:exon7:c.T760A:p.S254T 0.38 0.48 0.31 0.2 0.4 0.44 0.3914 0.4832 0.2450 0.2019 0.2813 0.4316 0.3623 0.4186 0.45 0.47 0.44 0.51 0.42 rs7163367 COSM1178437 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.399 0.131 N 1 0.090 P -0.955 0.012 N 2.01 0.213 T 1.38 0.009 N 0.009 0.013 -0.989 0.328 T 0.000 0.000 T . . . -1.911 0.009 0.002 0.356 0.022 0.000 0.003 N c -1.813 -1.775 0.000 0.012 0.497 0.185 0 -2.28 0.064 -0.440 0.069 0.200 0.252 0.000 0.063 0.019 0.132 0.951 0.013 . ENSG00000166823.5|ENSG00000140527.10|ENSG00000140527.10 Esophagus_Mucosa|Testis|Thyroid 0.3772 0.4748 0.2404 0.4425 0.1933 0.2812 0.4344 0.3806 0.4049 0.4075 0.4866 0.3082 0.4567 0.2098 0.2810 0.4183 0.3819 hom 1822.73 67 15 90260145 . T A 1822.73 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=27.20;VQSLOD=8.0532;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1856,144,0 15 90293776 90293776 A C exonic MESP1 synonymous SNV MESP1:NM_018670:exon1:c.T687G:p.P229P 0.59 0.86 0.46 0.26 0.61 0.64 0.6370 0.8278 0.4542 0.3929 0.5898 0.6830 0.6926 0.6925 0.75 0.84 0.7 0.076 0.082 rs2305441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5512 0.8042 0.3817 0.6818 0.2760 0.4611 0.6228 0.5777 0.6261 0.6337 0.8167 0.4616 0.7119 0.2812 0.4925 0.6121 0.5390 hom 379.15 15 15 90293776 . A C 379.15 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.28;VQSLOD=13.1973;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:36.09:412,36,0 15 90293806 90293806 C A exonic MESP1 synonymous SNV MESP1:NM_018670:exon1:c.G657T:p.P219P 0.13 0.2 0.17 0.13 0.061 0.1 0.2248 0.3425 0.3810 0.2929 0.1667 0.1552 0.1875 0.1691 0.09 0.16 0.059 0.011 . rs2305439 COSM1608819 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1923 0.3891 0.3186 0.0572 0.2588 0.1221 0.1111 0.1557 0.1550 0.1083 0.1755 0.1755 0.0364 0.1475 0.0845 0.0700 0.0820 het 186.70 10 15 90293806 . C A 186.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=18.67;ReadPosRankSum=-0.480;VQSLOD=12.2987;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:2,8:10:11.43:217,0,11 15 90334240 90334240 A G exonic ANPEP synonymous SNV ANPEP:NM_001150:exon19:c.T2613C:p.I871I 0.31 0.38 0.25 0.23 0.3 0.37 0.2979 0.3641 0.2236 0.2404 0.2004 0.3081 0.2930 0.3367 0.33 0.36 0.32 0.39 0.32 rs25654 COSM4128566 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2920 0.3614 0.2307 0.2554 0.2408 0.2061 0.3179 0.2897 0.3330 0.3068 0.3620 0.2697 0.2616 0.2398 0.2050 0.3104 0.2816 het 1650.97 134 15 90334240 . A G 1650.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.681;DP=134;Dels=0.00;FS=1.449;HRun=0;HaplotypeScore=1.4105;MQ=59.66;MQ0=0;MQRankSum=1.341;QD=12.32;ReadPosRankSum=-1.854;VQSLOD=6.0575;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,71:134:99:1681,0,1770 15 90335534 90335534 G A exonic ANPEP synonymous SNV ANPEP:NM_001150:exon18:c.C2385T:p.T795T 0.25 0.27 0.21 0.18 0.26 0.33 0.2457 0.2627 0.1760 0.1519 0.1607 0.2614 0.2544 0.3030 0.26 0.25 0.27 0.23 0.26 rs25652 COSM3999680 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2413 0.2607 0.1827 0.2433 0.1549 0.1641 0.2693 0.2401 0.2981 0.2427 0.2653 0.2206 0.2483 0.1411 0.1611 0.2611 0.2346 het 2715.68 212 15 90335534 . G A 2715.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.439;DP=212;DS;Dels=0.00;FS=1.813;HRun=0;HaplotypeScore=9.9080;MQ=59.18;MQ0=0;MQRankSum=-0.723;QD=12.81;ReadPosRankSum=-1.621;VQSLOD=3.0334;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,96:212:99:2746,0,3184 15 90335788 90335788 C T exonic ANPEP nonsynonymous SNV ANPEP:NM_001150:exon17:c.G2255A:p.S752N 0.35 0.51 0.26 0.23 0.3 0.37 0.3099 0.4967 0.2274 0.2385 0.2012 0.3084 0.2980 0.3374 0.38 0.49 0.32 0.4 0.32 rs25651 COSM4128567 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.070 0.216 N 1 0.090 P -0.995 0.012 N 3.43 0.055 T 3.0 0.001 N 0.012 0.001 -0.926 0.447 T 0.000 0.000 T . . . -1.605 0.015 0.002 0.134 0.003 0.025 0.070 N c -1.825 -1.828 0.999 0.392 0.707 0.730 0 -4.38 0.034 0.094 0.148 -2.192 0.004 0.008 0.178 0.060 0.171 14.257 0.655 ERAP1-like C-terminal domain ENSG00000166823.5|ENSG00000166823.5 Esophagus_Mucosa|Thyroid 0.3007 0.4970 0.2339 0.2552 0.2405 0.2059 0.3179 0.2894 0.3327 0.3459 0.5010 0.2739 0.2583 0.2373 0.2052 0.3103 0.2809 het 1187.91 88 15 90335788 . C T 1187.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.402;DP=88;Dels=0.00;FS=6.388;HRun=1;HaplotypeScore=6.1905;MQ=58.44;MQ0=0;MQRankSum=-0.417;QD=13.50;ReadPosRankSum=-1.411;VQSLOD=4.2611;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,45:88:99:1218,0,1213 15 90610934 90610934 C G exonic ZNF710 nonsynonymous SNV ZNF710:NM_198526:exon2:c.C565G:p.P189A 0.0072 0.0023 0.0058 . 0.014 0.015 0.0125 0.0028 0.0133 0.0001 0.0144 0.0149 0.0184 0.0133 0.0093 0.0021 0.013 . 0.0082 rs151314806 COSM289511 1(large_intestine) . . . . . . . . . . . 0.193 0.209 T 0.0 0.026 B 0.0 0.013 B 0.036 0.018 N 0.993 0.238 N 0.695 0.181 N 3.12 0.081 T -1.24 0.314 N 0.018 0.003 -0.955 0.401 T 0.006 0.019 T . . . -0.897 0.036 0.026 0.806 0.128 0.296 0.236 N c -0.899 -0.772 1.000 0.437 0.696 0.567 0 3.02 0.338 -0.007 0.126 0.848 0.348 0.000 0.063 0.035 0.152 3.174 0.061 . ENSG00000259291.1|ENSG00000140548.5 Lung|Lung 0.0116 0.0021 0.0096 0.0083 5.891e-05 0.0163 0.0142 0.0177 0.0121 0.0119 0.0021 0.0131 0.0033 0 0.0209 0.0169 0.0132 het 141.92 22 15 90610934 . C G 141.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.275;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;MQRankSum=-1.380;QD=6.45;ReadPosRankSum=1.380;VQSLOD=2.7291;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,8:22:99:172,0,468 15 90611521 90611521 C T exonic ZNF710 synonymous SNV ZNF710:NM_198526:exon2:c.C1152T:p.C384C 0.007 0.0023 0.0058 . 0.013 0.015 0.0121 0.0028 0.0132 0.0001 0.0144 0.0144 0.0167 0.0129 0.01 0.0027 0.014 . 0.0082 rs147080007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0118 0.0021 0.0099 0.0094 0.0001 0.0167 0.0144 0.0178 0.0125 0.0116 0.0021 0.0131 0.0033 0 0.0209 0.0161 0.0132 het 1979.71 124 15 90611521 . C T 1979.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.242;DP=124;Dels=0.00;FS=1.540;HRun=0;HaplotypeScore=2.6492;MQ=58.42;MQ0=0;MQRankSum=0.642;QD=15.97;ReadPosRankSum=-0.352;VQSLOD=4.0019;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,75:124:99:2010,0,1184 15 90623052 90623052 T C exonic ZNF710 synonymous SNV ZNF710:NM_198526:exon5:c.T1986C:p.N662N 0.67 0.73 0.58 0.82 0.48 0.71 0.5410 0.7261 0.6267 0.8318 0.3910 0.4437 0.5401 0.6631 0.54 0.72 0.45 0.64 0.45 rs2970357 COSM3754569 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5371 0.7251 0.6100 0.4985 0.8357 0.3942 0.4452 0.5109 0.6645 0.5338 0.7089 0.5538 0.4834 0.8370 0.4102 0.4328 0.4517 hom 2262.67 77 15 90623052 . T C 2262.67 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=29.39;VQSLOD=8.4906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2296,199,0 15 90764219 90764219 G A exonic SEMA4B stopgain SEMA4B:NM_001324029:exon5:c.G257A:p.W86X 0.28 0.061 0.23 0.61 0.15 0.39 0.2503 0.0997 0.3485 0.6488 0.2141 0.1693 0.2295 0.3811 0.12 0.085 0.14 0.14 . rs4932305 COSM3754571;COSM3754570 1(large_intestine) . . . . . . . . . . . 0.423 0.097 T 0.0 0.026 B 0.001 0.040 B 0.849 0.090 N 1 0.090 P -0.755 0.017 N 2.98 0.094 T 0.43 0.033 N 0.025 0.014 -0.985 0.337 T 0.000 0.000 T . . . 0.172 0.110 4.378 0.967 0.303 0.173 0.196 N c -0.981 -0.874 1.000 0.517 0.722 0.854 0 2.5 0.292 0.541 0.227 0.091 0.195 0.000 0.063 0.204 0.218 3.628 0.076 Sema domain|WD40/YVTN repeat-like-containing domain ENSG00000228998.3|ENSG00000228998.3 Artery_Aorta|Thyroid 0.2202 0.0852 0.2760 0.1042 0.6393 0.1893 0.1404 0.192 0.3490 0.1596 0.0872 0.2243 0.0927 0.6522 0.1923 0.1379 0.1704 het 384.84 29 15 90764219 . G A 384.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.284;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.89;MQ0=0;MQRankSum=1.069;QD=13.27;ReadPosRankSum=-1.069;VQSLOD=5.8475;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,15:29:99:415,0,378 15 90768271 90768271 C T exonic SEMA4B synonymous SNV SEMA4B:NM_001324029:exon9:c.C852T:p.F284F,SEMA4B:NM_001324030:exon10:c.C798T:p.F266F,SEMA4B:NM_001324032:exon10:c.C1266T:p.F422F,SEMA4B:NM_001324034:exon10:c.C1266T:p.F422F,SEMA4B:NM_198925:exon10:c.C1266T:p.F422F,SEMA4B:NM_001324031:exon11:c.C1425T:p.F475F,SEMA4B:NM_001324033:exon11:c.C798T:p.F266F,SEMA4B:NM_020210:exon11:c.C1266T:p.F422F 0.14 0.079 0.16 0.056 0.26 0.18 0.1968 0.0930 0.1093 0.0556 0.2688 0.2409 0.2321 0.1848 0.19 0.094 0.24 0.15 . rs11547966 COSM3754572;COSM3754573 1(breast);4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1976 0.0888 0.1210 0.2795 0.0569 0.2676 0.2374 0.2192 0.1887 0.1899 0.0899 0.1396 0.2980 0.0641 0.2613 0.2425 0.2403 het 2604.31 192 15 90768271 . C T 2604.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.116;DP=192;Dels=0.00;FS=0.542;HRun=2;HaplotypeScore=2.0508;MQ=59.01;MQ0=1;MQRankSum=-0.404;QD=13.56;ReadPosRankSum=0.701;VQSLOD=6.1999;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,101:192:99:2634,0,2342 15 90768320 90768320 C T exonic SEMA4B synonymous SNV SEMA4B:NM_001324029:exon9:c.C901T:p.L301L,SEMA4B:NM_001324030:exon10:c.C847T:p.L283L,SEMA4B:NM_001324032:exon10:c.C1315T:p.L439L,SEMA4B:NM_001324034:exon10:c.C1315T:p.L439L,SEMA4B:NM_198925:exon10:c.C1315T:p.L439L,SEMA4B:NM_001324031:exon11:c.C1474T:p.L492L,SEMA4B:NM_001324033:exon11:c.C847T:p.L283L,SEMA4B:NM_020210:exon11:c.C1315T:p.L439L 0.26 0.08 0.32 0.37 0.26 0.36 0.2612 0.1105 0.3559 0.3402 0.2777 0.2328 0.2355 0.3529 0.19 0.12 0.23 0.098 . rs11073918 COSM3754574;COSM3754575 1(liver);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2668 0.1116 0.3567 0.1709 0.3469 0.2800 0.2313 0.2436 0.3547 0.2130 0.1198 0.3270 0.1424 0.3679 0.2831 0.2261 0.2618 het 1717.64 118 15 90768320 . C T 1717.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.606;DP=118;Dels=0.00;FS=0.957;HRun=1;HaplotypeScore=3.9633;MQ=59.07;MQ0=1;MQRankSum=-1.264;QD=14.56;ReadPosRankSum=-0.177;VQSLOD=5.2424;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,63:118:99:1748,0,1624 15 90768959 90768959 A C exonic SEMA4B synonymous SNV SEMA4B:NM_001324029:exon11:c.A1174C:p.R392R,SEMA4B:NM_001324030:exon12:c.A1120C:p.R374R,SEMA4B:NM_001324032:exon12:c.A1588C:p.R530R,SEMA4B:NM_001324034:exon12:c.A1618C:p.R540R,SEMA4B:NM_198925:exon12:c.A1588C:p.R530R,SEMA4B:NM_001324031:exon13:c.A1747C:p.R583R,SEMA4B:NM_001324033:exon13:c.A1120C:p.R374R,SEMA4B:NM_020210:exon13:c.A1588C:p.R530R 0.36 0.7 0.3 0.1 0.36 0.2 0.4015 0.6822 0.3717 0.2047 0.4231 0.4309 0.3810 0.2435 0.43 0.62 0.34 0.45 . rs908044 COSM5766906;COSM5766907 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3036 0.6569 0.2281 0.3277 0.1086 0.3022 0.3389 0.3464 0.2240 0.4095 0.6538 0.2721 0.3433 0.1207 0.3115 0.3357 0.3327 het 145.54 19 15 90768959 . A C 145.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.362;DP=19;Dels=0.00;FS=4.320;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.197;QD=7.66;ReadPosRankSum=-1.528;VQSLOD=4.6168;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,8:19:99:176,0,326 15 90771704 90771704 G A exonic SEMA4B synonymous SNV SEMA4B:NM_001324029:exon13:c.G1929A:p.P643P,SEMA4B:NM_001324030:exon14:c.G1875A:p.P625P,SEMA4B:NM_001324034:exon14:c.G2373A:p.P791P,SEMA4B:NM_198925:exon14:c.G2343A:p.P781P,SEMA4B:NM_001324031:exon15:c.G2502A:p.P834P,SEMA4B:NM_001324033:exon15:c.G1875A:p.P625P,SEMA4B:NM_020210:exon15:c.G2343A:p.P781P 0.23 0.38 0.17 0.11 0.24 0.16 0.2193 0.3592 0.1233 0.1202 0.2573 0.2316 0.2506 0.1895 0.26 0.34 0.22 0.29 . rs3751656 COSM3754576 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2099 0.3488 0.1309 0.2619 0.1125 0.2540 0.2237 0.2256 0.1847 0.2625 0.3542 0.1516 0.2583 0.1238 0.2445 0.2360 0.2434 het 175.97 19 15 90771704 . G A 175.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.933;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.222;QD=9.26;ReadPosRankSum=0.755;VQSLOD=11.4413;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:206,0,307 15 90771750 90771750 T G exonic SEMA4B nonsynonymous SNV SEMA4B:NM_001324029:exon13:c.T1975G:p.S659A,SEMA4B:NM_001324030:exon14:c.T1921G:p.S641A,SEMA4B:NM_001324034:exon14:c.T2419G:p.S807A,SEMA4B:NM_198925:exon14:c.T2389G:p.S797A,SEMA4B:NM_001324031:exon15:c.T2548G:p.S850A,SEMA4B:NM_001324033:exon15:c.T1921G:p.S641A,SEMA4B:NM_020210:exon15:c.T2389G:p.S797A 0.79 0.9 0.78 0.8 0.7 0.75 0.6935 0.8709 0.7642 0.8138 0.6267 0.6383 0.6717 0.7255 0.71 0.87 0.64 0.66 . rs3751655 COSM3754577 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.501 0.077 T 0.002 0.090 B 0.002 0.063 B 0.302 0.146 N 1.000 0.588 P 1.04 0.263 L 2.01 0.213 T -0.03 0.075 N 0.012 0.001 -1.044 0.163 T 0.000 0.000 T . . . -0.047 0.089 2.160 0.814 0.132 0.383 0.257 N c -1.005 -0.879 0.999 0.384 0.672 0.522 0 2.86 0.323 2.819 0.475 -0.323 0.076 0.965 0.337 0.188 0.214 4.051 0.092 . ENSG00000228998.3|ENSG00000185033.10|ENSG00000185043.6|ENSG00000185043.6|ENSG00000185033.10|ENSG00000185043.6 Artery_Tibial|Esophagus_Mucosa|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.6966 0.8717 0.7722 0.6343 0.8210 0.6325 0.6395 0.6949 0.7288 0.7089 0.8636 0.7404 0.6141 0.8381 0.6278 0.6269 0.6602 hom 487.08 15 15 90771750 . T G 487.08 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.47;VQSLOD=13.2192;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:520,42,0 15 90784207 90784207 A G exonic GDPGP1 nonsynonymous SNV GDPGP1:NM_001013657:exon4:c.A67G:p.R23G,GDPGP1:NM_001322811:exon5:c.A67G:p.R23G 1. 1. 1. 1. 1. 1. 0.9999 1 0.9998 0.9999 1 0.9999 1 1 1. 1. 1. 1. 1. rs7166441 . . . . . . . . . . . . . 0.208 0.204 T 0.0 0.026 B 0.0 0.013 B 0.750 0.065 N 1 0.090 P -2.605 0.000 N 1.93 0.445 T 0.22 0.073 N 0.026 0.479 -1.014 0.256 T 0.000 0.000 T . . . -1.182 0.026 0.007 0.466 0.037 0.000 0.004 N c -2.274 -2.135 1.000 0.458 0.563 0.310 0 0.179 0.143 0.159 0.161 -2.238 0.004 0.000 0.063 0.000 0.016 7.34 0.256 . . . 0.9999 1 0.9999 1 0.9999 1.0000 0.9999 1 1 1 1 1 1 1 1 1 1 hom 7527.04 249 15 90784207 . A G 7527.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.036;DP=249;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5619;MQ=59.56;MQ0=0;MQRankSum=-0.689;QD=30.11;ReadPosRankSum=1.621;VQSLOD=6.7141;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,248:249:99:7494,621,0 15 90784250 90784250 T C exonic GDPGP1 nonsynonymous SNV GDPGP1:NM_001013657:exon4:c.T110C:p.M37T,GDPGP1:NM_001322811:exon5:c.T110C:p.M37T 0.82 0.99 0.8 0.8 0.7 0.75 0.7020 0.9430 0.7725 0.8171 0.6247 0.6390 0.6762 0.7278 0.75 0.94 0.65 0.73 0.65 rs7171194 COSM3999684 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.108 0.294 T 0.0 0.026 B 0.0 0.013 B 0.435 0.047 N 1 0.090 P 0 0.065 N 2.03 0.411 T -0.73 0.547 N 0.011 0.380 -1.034 0.191 T 0.000 0.000 T . . . -0.981 0.033 0.017 0.702 0.089 0.109 0.161 N c -1.531 -1.476 1.000 0.462 0.660 0.495 0 -1.38 0.085 0.125 0.155 -0.704 0.037 0.000 0.063 0.003 0.074 5.664 0.168 . ENSG00000228998.3|ENSG00000228998.3|ENSG00000183208.8|ENSG00000228998.3|ENSG00000185043.6|ENSG00000228998.3|ENSG00000185043.6|ENSG00000185033.10|ENSG00000185043.6|ENSG00000228998.3 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7041 0.9485 0.7831 0.6032 0.8227 0.6320 0.6442 0.6979 0.7327 0.7338 0.9399 0.7464 0.5861 0.8432 0.6287 0.6332 0.6646 hom 7817.04 250 15 90784250 . T C 7817.04 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=59.61;MQ0=0;QD=31.27;VQSLOD=8.7738;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7815,656,0 15 90897952 90897952 C T exonic ZNF774 synonymous SNV ZNF774:NM_001004309:exon2:c.C60T:p.L20L 0.32 0.46 0.2 0.35 0.19 0.3 0.2591 0.4227 0.1972 0.3503 0.2316 0.2181 0.2821 0.3215 0.26 0.39 0.19 0.35 0.23 rs8023776 COSM3765838 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2290 0.3894 0.1704 0.1991 0.3379 0.2093 0.1970 0.2206 0.2954 0.2619 0.3929 0.2005 0.2252 0.3267 0.2029 0.1991 0.2255 het 336.18 37 15 90897952 . C T 336.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.562;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.47;MQ0=0;MQRankSum=-0.294;QD=9.09;ReadPosRankSum=1.315;VQSLOD=6.2275;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,15:37:99:366,0,502 15 90903311 90903311 A G exonic ZNF774 nonsynonymous SNV ZNF774:NM_001004309:exon4:c.A248G:p.N83S 0.69 0.82 0.69 0.84 0.45 0.6 0.5618 0.7517 0.7165 0.8574 0.4430 0.4695 0.5574 0.5989 0.57 0.75 0.47 0.6 0.48 rs2589957 . . . . . . . . . . . . . 0.596 0.057 T 0.0 0.026 B 0.0 0.013 B 0.552 0.114 N 1 0.090 P -0.695 0.019 N 1.78 0.257 T -0.19 0.100 N 0.001 0.000 -1.030 0.203 T 0.000 0.000 T . . . -1.634 0.014 0.002 0.595 0.061 0.029 0.077 N c -1.502 -1.352 0.015 0.127 0.554 0.283 0 1.71 0.233 -0.219 0.092 -0.952 0.024 0.000 0.063 0.821 0.343 1.598 0.025 . ENSG00000140575.8|ENSG00000196391.6|ENSG00000140575.8|ENSG00000140575.8|ENSG00000196391.6|ENSG00000140575.8|ENSG00000196391.6|ENSG00000196391.6|ENSG00000140575.8|ENSG00000140575.8|ENSG00000140577.11|ENSG00000185043.6|ENSG00000140575.8|ENSG00000140575.8|ENSG00000196391.6 Artery_Aorta|Artery_Aorta|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid 0.5607 0.7491 0.6942 0.4336 0.8599 0.4521 0.4722 0.5352 0.5983 0.5691 0.7551 0.6516 0.4503 0.8586 0.4533 0.4607 0.4755 hom 3755.88 121 15 90903311 . A G 3755.88 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.129;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8640;MQ=58.88;MQ0=0;MQRankSum=-1.188;QD=31.04;ReadPosRankSum=-0.816;VQSLOD=8.7404;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,120:121:99:3718,251,0 15 91010776 91010776 T C exonic IQGAP1 synonymous SNV IQGAP1:NM_003870:exon18:c.T2130C:p.P710P 0.44 0.72 0.27 0.38 0.33 0.34 0.3556 0.6846 0.2746 0.3767 0.3157 0.3258 0.3565 0.3315 0.45 0.68 0.33 0.42 0.3 rs1505936 COSM3999685 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3436 0.6845 0.2730 0.3070 0.3742 0.3158 0.3259 0.3406 0.3318 0.4239 0.6860 0.2983 0.34 0.3666 0.3228 0.3172 0.3175 hom 1759.88 57 15 91010776 . T C 1759.88 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9578;MQ=58.70;MQ0=0;QD=30.88;VQSLOD=9.2860;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:57:99:1793,141,0 15 91424574 91424574 G C exonic FURIN synonymous SNV FURIN:NM_001289823:exon16:c.G1851C:p.G617G,FURIN:NM_001289824:exon16:c.G1851C:p.G617G,FURIN:NM_002569:exon16:c.G1851C:p.G617G 0.72 0.97 0.66 0.54 0.7 0.65 0.6810 0.9309 0.6466 0.5316 0.6510 0.6763 0.6501 0.6592 0.76 0.93 0.68 0.81 0.71 rs6226 COSM3721867 1(kidney);1(liver);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6761 0.9368 0.6507 0.6931 0.5305 0.6563 0.6783 0.6680 0.6588 0.7403 0.9259 0.6555 0.6987 0.5341 0.6279 0.6917 0.6581 hom 6347.10 205 15 91424574 . G C 6347.10 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9920;MQ=59.19;MQ0=0;QD=30.96;VQSLOD=8.7206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,204:205:99:6346,491,0 15 91430436 91430436 T C exonic FES synonymous SNV FES:NM_001143783:exon3:c.T330C:p.A110A,FES:NM_001143784:exon4:c.T504C:p.A168A,FES:NM_001143785:exon4:c.T330C:p.A110A,FES:NM_002005:exon5:c.T504C:p.A168A 0.94 0.93 0.98 0.89 0.96 0.95 0.9608 0.9302 0.9846 0.9181 0.9484 0.9667 0.9658 0.9667 0.96 0.93 0.97 0.9 0.98 rs2071383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9616 0.9312 0.9846 0.9579 0.9149 0.9494 0.9672 0.9650 0.9674 0.9534 0.9307 0.9821 0.9603 0.8909 0.9533 0.9708 0.9664 hom 7705.50 235 15 91430436 . T C 7705.50 Mask AC=2;AF=1.00;AN=2;DP=235;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5193;MQ=59.63;MQ0=0;QD=32.79;VQSLOD=7.3990;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,235:235:99:7705,587,0 15 91454691 91454691 C A exonic MAN2A2 nonsynonymous SNV MAN2A2:NM_006122:exon14:c.C2020A:p.R674S,MAN2A2:NM_001320977:exon15:c.C2020A:p.R674S . . . . . . 1.649e-05 0 0 0 0 3.002e-05 0 0 . . . . . rs377597565 . . . . . . . . . . . . . 0.165 0.232 T 0.12 0.251 B 0.111 0.300 B 0.000 0.843 D 1.000 0.524 D 1.475 0.372 L -1.16 0.781 T -1.49 0.364 N 0.38 0.808 -0.616 0.642 T 0.357 0.720 T 0.165 0.845 D 4.960 0.667 25.0 0.990 0.488 0.880 0.475 D c -0.176 -0.065 1.000 0.747 0.707 0.730 0 4.56 0.555 1.842 0.387 0.935 0.490 1.000 0.715 0.014 0.122 8.121 0.300 Galactose mutarotase-like domain|Glycosyl hydrolase family 38\x2c C-terminal|Glycosyl hydrolase\x2c family 13\x2c all-beta . . 1.218e-05 0 0 0 0 0 2.686e-05 0 0 . . . . . . . . het 1894.96 147 15 91454691 . C A 1894.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.960;DP=147;DS;Dels=0.00;FS=5.606;HRun=0;HaplotypeScore=1.5717;MQ=59.24;MQ0=0;MQRankSum=-0.076;QD=12.89;ReadPosRankSum=-0.777;VQSLOD=4.0284;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,71:147:99:1925,0,1873 15 91524841 91524841 G T exonic PRC1 nonsynonymous SNV PRC1:NM_001267580:exon4:c.C437A:p.A146E,PRC1:NM_003981:exon5:c.C560A:p.A187E,PRC1:NM_199413:exon5:c.C560A:p.A187E 1. 1. 1. 1. 1. 1. 0.9970 0.9985 0.9993 1 0.9995 0.9954 0.9989 0.9984 1. 1. 0.99 1. 1. rs7172758 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.986 0.246 P -2.485 0.001 N 1.6 0.286 T 4.58 0.000 N 0.213 0.529 -0.954 0.403 T 0.000 0.000 T . . . 1.517 0.244 13.41 0.909 0.196 0.238 0.220 N c -0.867 -0.539 1.000 0.747 0.672 0.522 0 5.26 0.734 5.484 0.663 0.152 0.238 1.000 0.715 0.992 0.562 12.311 0.541 . . . 0.9970 0.9986 0.9988 0.9988 1 0.9994 0.9948 0.9969 0.9983 0.9974 0.9985 0.9988 1 1 1 0.9956 0.9980 hom 3361.19 109 15 91524841 . G T 3361.19 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8255;MQ=59.06;MQ0=0;QD=30.84;VQSLOD=8.5693;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3361,265,0 15 91825027 91825027 C T exonic SV2B synonymous SNV SV2B:NM_001323033:exon8:c.C1110T:p.D370D,SV2B:NM_001167580:exon9:c.C990T:p.D330D,SV2B:NM_001323036:exon9:c.C1014T:p.D338D,SV2B:NM_001323031:exon10:c.C1443T:p.D481D,SV2B:NM_001323032:exon10:c.C1443T:p.D481D,SV2B:NM_001323034:exon10:c.C1443T:p.D481D,SV2B:NM_001323038:exon10:c.C1443T:p.D481D,SV2B:NM_001323039:exon10:c.C1443T:p.D481D,SV2B:NM_001323040:exon10:c.C990T:p.D330D,SV2B:NM_001323037:exon11:c.C1443T:p.D481D,SV2B:NM_014848:exon11:c.C1443T:p.D481D 0.33 0.76 0.18 0.14 0.21 0.19 0.2276 0.6779 0.1247 0.1486 0.1151 0.2001 0.2093 0.2146 0.36 0.67 0.2 0.5 0.22 rs1117388 COSM4128595 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2138 0.6899 0.1283 0.2921 0.1519 0.1150 0.1961 0.2146 0.2157 0.3234 0.6710 0.1591 0.3146 0.1654 0.1219 0.2023 0.2092 het 1423.71 134 15 91825027 . C T 1423.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.357;DP=134;Dels=0.00;FS=6.569;HRun=0;HaplotypeScore=0.9992;MQ=59.83;MQ0=0;MQRankSum=-1.265;QD=10.62;ReadPosRankSum=0.819;VQSLOD=4.7335;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,56:134:99:1454,0,2033 15 91827264 91827264 C T exonic SV2B synonymous SNV SV2B:NM_001323033:exon9:c.C1188T:p.H396H,SV2B:NM_001167580:exon10:c.C1068T:p.H356H,SV2B:NM_001323036:exon10:c.C1092T:p.H364H,SV2B:NM_001323031:exon11:c.C1521T:p.H507H,SV2B:NM_001323032:exon11:c.C1521T:p.H507H,SV2B:NM_001323038:exon11:c.C1521T:p.H507H,SV2B:NM_001323039:exon11:c.C1521T:p.H507H,SV2B:NM_001323040:exon11:c.C1068T:p.H356H,SV2B:NM_001323037:exon12:c.C1521T:p.H507H,SV2B:NM_014848:exon12:c.C1521T:p.H507H 0.13 0.26 0.062 0.051 0.076 0.13 0.0960 0.2381 0.0498 0.0526 0.0714 0.0795 0.0969 0.1378 0.13 0.23 0.079 0.21 0.057 rs2301664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0913 0.2450 0.0520 0.0939 0.0527 0.0718 0.0778 0.0958 0.1408 0.1220 0.2359 0.0525 0.1367 0.0537 0.0693 0.0821 0.0757 het 4207.35 250 15 91827264 . C T 4207.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.044;DP=250;DS;Dels=0.00;FS=5.986;HRun=0;HaplotypeScore=6.5593;MQ=58.03;MQ0=0;MQRankSum=0.752;QD=16.83;ReadPosRankSum=-0.823;VQSLOD=3.8461;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:120,130:250:99:3520,0,3546 15 92647645 92647645 G C exonic SLCO3A1 nonsynonymous SNV SLCO3A1:NM_001145044:exon4:c.G882C:p.E294D,SLCO3A1:NM_013272:exon4:c.G882C:p.E294D 0.9 0.91 0.92 0.97 0.83 0.89 0.8635 0.8970 0.9312 0.9629 0.8320 0.8270 0.8775 0.9025 0.85 0.89 0.83 0.9 0.84 rs1517618 . . . . . . . . . . . . . 0.773 0.033 T 0.0 0.026 B 0.001 0.127 B 0.092 0.203 N 1.000 0.209 P 0.46 0.130 N -1.47 0.811 T -0.78 0.216 N 0.091 0.089 -0.999 0.302 T 0.000 0.000 T . . . 1.140 0.204 11.43 0.925 0.214 0.439 0.270 N c -0.489 -0.319 0.887 0.257 0.758 0.990 0 3.07 0.343 1.109 0.305 0.067 0.174 1.000 0.715 0.998 0.697 8.702 0.333 Major facilitator superfamily domain . . 0.8669 0.9005 0.9249 0.8929 0.9629 0.8282 0.8260 0.8647 0.9017 0.8604 0.8992 0.9332 0.8874 0.9604 0.8325 0.8299 0.8452 hom 3450 109 15 92647645 . G C 3450 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.2304;MQ=59.36;MQ0=0;QD=31.65;VQSLOD=4.9155;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3450,268,0 15 92690379 92690379 A G exonic SLCO3A1 nonsynonymous SNV SLCO3A1:NM_001145044:exon8:c.A1678G:p.I560V,SLCO3A1:NM_013272:exon8:c.A1678G:p.I560V 0.0012 . . . 0.003 0.0031 0.0022 0.0009 0.0003 0 0.0003 0.0030 0.0023 0.0032 0.0025 0.0009 0.0034 . 0.0082 rs141187463 . . . . . . . . . . . . . 0.676 0.045 T 0.394 0.622 B 0.187 0.725 B 0.000 0.843 D 1 0.810 D 0.415 0.125 N 1.21 0.372 T -0.6 0.185 N 0.631 0.649 -1.047 0.153 T 0.109 0.395 T 0.007 0.193 T 2.176 0.323 17.35 0.995 0.677 0.989 0.878 D c 0.257 0.411 1.000 0.747 0.644 0.439 0 6.03 0.978 8.726 0.911 1.199 0.960 1.000 0.715 1.000 0.888 16.558 0.843 Major facilitator superfamily domain . . 0.0021 0.0009 0.0003 0 0 0.0002 0.0036 0.0013 0.0029 0.0022 0.0009 0 0 0.0006 0.0017 0.0035 0.0010 het 1703.39 185 15 92690379 . A G 1703.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.264;DP=185;Dels=0.00;FS=8.961;HRun=0;HaplotypeScore=0.8941;MQ=58.93;MQ0=0;MQRankSum=-1.323;QD=9.21;ReadPosRankSum=0.864;VQSLOD=2.1952;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:112,73:185:99:1733,0,3175 15 92987938 92987938 C G exonic ST8SIA2 synonymous SNV ST8SIA2:NM_001330416:exon4:c.C558G:p.P186P,ST8SIA2:NM_006011:exon5:c.C621G:p.P207P 0.22 0.6 0.13 0.026 0.11 0.11 0.1531 0.5269 0.1024 0.0331 0.0961 0.1335 0.1391 0.1191 0.26 0.52 0.13 0.26 0.098 rs2305561 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1450 0.5335 0.1084 0.2161 0.0328 0.0908 0.1311 0.1475 0.1210 0.2302 0.5288 0.1253 0.2020 0.0333 0.0962 0.1224 0.1270 het 2159.82 153 15 92987938 . C G 2159.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.697;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3370;MQ=59.08;MQ0=0;MQRankSum=-0.522;QD=14.12;ReadPosRankSum=-1.050;VQSLOD=4.2337;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,88:153:99:2190,0,1910 15 93510603 93510603 A G exonic CHD2 synonymous SNV CHD2:NM_001271:exon17:c.A2049G:p.E683E 0.83 0.58 0.89 1. 0.85 0.91 0.8419 0.6121 0.9257 0.9973 0.7685 0.8349 0.8557 0.9035 0.77 0.62 0.84 0.78 0.93 rs4777755 . . Benign not_specified RCV000251472.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8491 0.6083 0.9220 0.9061 0.9979 0.7661 0.8342 0.8558 0.9013 0.7708 0.6178 0.9105 0.9305 0.9981 0.7596 0.8233 0.8219 het 810.50 87 15 93510603 . A G 810.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.941;DP=87;Dels=0.00;FS=3.169;HRun=0;HaplotypeScore=2.7714;MQ=59.42;MQ0=0;MQRankSum=0.049;QD=9.32;ReadPosRankSum=0.552;VQSLOD=6.1747;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,35:87:99:840,0,1400 15 93521604 93521604 A G exonic CHD2 synonymous SNV CHD2:NM_001271:exon21:c.A2718G:p.Q906Q 0.81 0.52 0.89 1. 0.85 0.91 0.8353 0.5603 0.9223 0.9973 0.7681 0.8316 0.8543 0.9031 0.75 0.57 0.84 0.74 0.93 rs11074121 . . Benign not_specified RCV000253610.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8438 0.5559 0.9182 0.9056 0.9979 0.7656 0.8309 0.8528 0.9004 0.7534 0.5632 0.9069 0.9272 0.9981 0.7585 0.8202 0.8112 het 1358.70 104 15 93521604 . A G 1358.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.837;DP=104;Dels=0.00;FS=0.848;HRun=0;HaplotypeScore=1.8893;MQ=58.39;MQ0=0;MQRankSum=-0.643;QD=13.06;ReadPosRankSum=0.114;VQSLOD=5.5028;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,54:104:99:1389,0,1327 15 93567864 93567864 A C exonic CHD2 synonymous SNV CHD2:NM_001271:exon39:c.A5416C:p.R1806R 0.19 0.086 0.22 0.058 0.37 0.24 0.2946 0.1229 0.1681 0.0669 0.2333 0.3819 0.3318 0.2741 0.31 0.12 0.4 0.2 0.41 rs12906163 COSM4418335 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000242407.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2939 0.1205 0.1805 0.4362 0.0724 0.2289 0.3900 0.3342 0.2738 0.2671 0.1384 0.2189 0.4371 0.0784 0.2251 0.3686 0.3101 het 785.60 74 15 93567864 . A C 785.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.802;DP=74;Dels=0.00;FS=3.195;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=-0.635;QD=10.62;ReadPosRankSum=2.153;VQSLOD=5.6588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,34:74:99:816,0,1033 15 93588264 93588264 G C exonic RGMA synonymous SNV RGMA:NM_001166286:exon3:c.C1269G:p.L423L,RGMA:NM_001166283:exon4:c.C1341G:p.L447L,RGMA:NM_001166287:exon4:c.C1269G:p.L423L,RGMA:NM_001166288:exon4:c.C1269G:p.L423L,RGMA:NM_001166289:exon4:c.C1269G:p.L423L,RGMA:NM_020211:exon4:c.C1317G:p.L439L 0.47 0.33 0.49 0.71 0.42 0.48 0.5305 0.4333 0.6394 0.7296 0.4464 0.5162 0.4965 0.4768 0.41 0.35 0.43 0.41 . rs4299103 COSM3749318;COSM3749317 1(thyroid);7(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4709 0.3620 0.5795 0.4116 0.7044 0.3490 0.4532 0.4504 0.4390 0.4166 0.3611 0.5646 0.3940 0.6722 0.3450 0.4303 0.4121 hom 846 27 15 93588264 . G C 846 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.33;VQSLOD=13.2589;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:66.22:879,66,0 15 93588336 93588336 A C exonic RGMA nonsynonymous SNV RGMA:NM_001166286:exon3:c.T1197G:p.D399E,RGMA:NM_001166283:exon4:c.T1269G:p.D423E,RGMA:NM_001166287:exon4:c.T1197G:p.D399E,RGMA:NM_001166288:exon4:c.T1197G:p.D399E,RGMA:NM_001166289:exon4:c.T1197G:p.D399E,RGMA:NM_020211:exon4:c.T1245G:p.D415E 1. 1. 1. 1. 1. 1. 1.0000 1 0.9998 0.9998 1 1 1 1 . . . 1. . rs4238485 COSM4591657;COSM4591656 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 hom 713.91 22 15 93588336 . A C 713.91 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.45;VQSLOD=12.6380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:60.18:747,60,0 15 98513845 98513845 T C exonic ARRDC4 nonsynonymous SNV ARRDC4:NM_183376:exon7:c.T1072C:p.S358P 0.42 0.054 0.5 0.55 0.48 0.65 0.5021 0.1172 0.5343 0.5455 0.4259 0.5188 0.5077 0.6624 0.38 0.12 0.51 0.37 0.48 rs2130882 COSM1375590 1(thyroid) . . . . . . . . . . . 0.418 0.099 T 0.998 0.715 D 0.878 0.605 P 0.000 0.629 D 0.002 0.446 P 1.91 0.513 L 3.05 0.087 T -1.28 0.322 N 0.304 0.364 -0.998 0.305 T 0.000 0.000 T . . . 4.251 0.569 23.9 0.991 0.528 0.915 0.533 D c 0.130 0.138 1.000 0.451 0.706 0.609 0 4.35 0.513 4.709 0.613 0.123 0.211 1.000 0.715 0.994 0.587 12.081 0.528 . ENSG00000258483.1|ENSG00000140450.7 Colon_Transverse|Whole_Blood 0.5050 0.1071 0.5301 0.5759 0.5378 0.4278 0.5130 0.5037 0.6620 0.3922 0.1209 0.5108 0.6192 0.5318 0.4482 0.5035 0.5071 hom 1703.54 54 15 98513845 . T C 1703.54 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.14;MQ0=0;QD=31.55;VQSLOD=9.1669;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1737,135,0 15 98995081 98995081 A G exonic FAM169B nonsynonymous SNV FAM169B:NM_182562:exon5:c.T343C:p.S115P 0.91 0.78 0.96 1. 0.94 0.95 0.9328 0.7823 0.9701 0.9956 0.9452 0.9343 0.9238 0.9523 0.89 0.79 0.94 0.89 . rs12101356 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.200 P -2.945 0.000 N 2.86 0.105 T 7.06 0.000 N 0.057 0.040 -0.971 0.370 T 0.000 0.000 T . . . 0.307 0.123 5.757 0.142 0.003 0.047 0.102 N c -1.038 -0.827 1.000 0.400 0.487 0.133 0 4.69 0.584 7.167 0.770 0.138 0.222 1.000 0.715 0.001 0.043 11.970 0.522 . . . 0.9371 0.7792 0.9683 0.9075 0.9944 0.9495 0.9361 0.9377 0.9526 0.8946 0.7775 0.9690 0.9040 0.9963 0.9539 0.9310 0.9308 hom 1546.44 50 15 98995081 . A G 1546.44 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.38;MQ0=0;QD=30.93;VQSLOD=7.1867;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1579,126,0 15 99478225 99478225 G A exonic IGF1R synonymous SNV IGF1R:NM_000875:exon16:c.G3129A:p.E1043E,IGF1R:NM_001291858:exon16:c.G3126A:p.E1042E 0.34 0.26 0.36 0.35 0.43 0.32 0.3972 0.2939 0.3227 0.3527 0.4125 0.4550 0.3667 0.2999 0.4 0.3 0.46 0.36 0.51 rs2229765 COSM3999692 1(breast);2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Insulin-Like_Growth_Factor_I_Resistance RCV000175020.1|RCV000279116.1 MedGen|MedGen CN169374|CN239364 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3969 0.2929 0.3357 0.4745 0.3520 0.4140 0.4520 0.4110 0.3007 0.3945 0.2935 0.3357 0.4073 0.3371 0.4183 0.4537 0.4438 het 1490.01 116 15 99478225 . G A 1490.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.171;DP=116;Dels=0.00;FS=0.741;HRun=1;HaplotypeScore=3.6801;MQ=59.12;MQ0=0;MQRankSum=-1.243;QD=12.84;ReadPosRankSum=-0.558;VQSLOD=5.7528;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,57:116:99:1520,0,1612 15 99511793 99511793 C G exonic PGPEP1L nonsynonymous SNV PGPEP1L:NM_001102612:exon5:c.G505C:p.E169Q,PGPEP1L:NM_001167902:exon5:c.G343C:p.E115Q 0.44 0.16 0.49 0.48 0.57 0.62 0.5122 0.2154 0.5003 0.4890 0.5350 0.5254 0.5486 0.6406 0.42 0.21 0.52 0.35 . rs1521484 COSM4128605 1(thyroid) . . . . . . . . . . . 0.103 0.301 T 0.682 0.395 P 0.322 0.400 B 0.023 0.265 N 1.000 0.195 P 2.095 0.583 M 1.51 0.309 T -1.99 0.459 N 0.059 0.059 -0.964 0.384 T 0.000 0.000 T . . . 3.635 0.494 23.2 0.990 0.492 0.552 0.295 D c -0.715 -0.743 0.982 0.303 0.487 0.133 0 2.51 0.293 1.623 0.364 0.013 0.140 0.463 0.264 0.752 0.322 10.142 0.417 . ENSG00000140443.9|ENSG00000140443.9|ENSG00000259475.1|ENSG00000183571.9|ENSG00000259475.1|ENSG00000183571.9 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Muscle_Skeletal|Nerve_Tibial|Testis 0.5105 0.2015 0.4952 0.5552 0.4832 0.5324 0.5200 0.5146 0.6319 0.4338 0.2172 0.5432 0.6093 0.4969 0.5363 0.5164 0.4847 hom 802.12 25 15 99511793 . C G 802.12 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;QD=32.08;VQSLOD=8.9491;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:63.21:835,63,0 15 99511804 99511804 - C exonic PGPEP1L frameshift insertion PGPEP1L:NM_001102612:exon5:c.493dupG:p.V165Gfs*39,PGPEP1L:NM_001167902:exon5:c.331dupG:p.V111Gfs*39 0.44 0.16 0.49 0.48 0.57 0.62 0.5109 0.2140 0.4987 0.4897 0.5338 0.5238 0.5403 0.6394 0.42 0.22 0.52 0.35 . rs5814919 COSM966819 2(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5090 0.1973 0.4942 0.5547 0.4821 0.5317 0.5183 0.5121 0.6311 0.4323 0.2141 0.5407 0.6093 0.4981 0.5363 0.5152 0.4847 hom 1032.97 25 15 99511804 . A AC 1032.97 Mask AC=2;AF=1.00;AN=2;DP=25;FS=0.000;HRun=1;HaplotypeScore=138.7008;MQ=59.51;MQ0=0;QD=41.32;set=variant2 GT:AD:DP:GQ:PL 1/1:1,24:25:72.24:1075,72,0 15 99653800 99653800 T C exonic SYNM unknown UNKNOWN 0.57 0.44 0.54 0.69 0.61 0.61 0.5891 0.4613 0.5087 0.7094 0.5951 0.6027 0.6319 0.5960 0.55 0.47 0.58 0.53 . rs2305445 . . . . . . . . . . . . . . . . 0.056 0.214 B 0.141 0.320 B . . . 1.000 0.314 P . . . -2.33 0.879 D . . . 0.28 0.375 -0.952 0.407 T 0.000 0.000 T . . . 2.018 0.303 16.32 0.954 0.262 0.081 0.139 N c -1.021 -1.032 1.000 0.747 0.615 0.372 0 0.178 0.143 0.446 0.213 -0.219 0.097 0.020 0.195 0.365 0.248 3.313 0.066 . ENSG00000261054.1|ENSG00000103852.8|ENSG00000103852.8|ENSG00000261054.1|ENSG00000182253.10 Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Nerve_Tibial|Nerve_Tibial 0.5808 0.4496 0.5020 0.6030 0.7106 0.5991 0.5947 0.5974 0.5846 0.5542 0.4502 0.5107 0.63 0.7048 0.5940 0.5902 0.5521 hom 1559.34 50 15 99653800 . T C 1559.34 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=31.19;VQSLOD=9.5345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1592,129,0 15 99669628 99669628 A T exonic SYNM unknown UNKNOWN 0.15 0.11 0.069 0.27 0.11 0.17 0.1139 0.0996 0.0557 0.3005 0.1036 0.0957 0.0993 0.1444 0.091 0.097 0.088 0.16 . rs3743242 COSM3999695;COSM3999694 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.047 0.403 D 0.997 0.689 D 0.887 0.612 P . . . 1 0.090 P . . . -0.75 0.849 T -3.43 0.673 D 0.322 0.454 -1.032 0.198 T 0.000 0.000 T . . . 4.113 0.552 23.7 0.997 0.824 0.223 0.215 N c -0.302 -0.516 1.000 0.408 0.539 0.216 0 -0.536 0.112 0.732 0.256 1.140 0.893 0.007 0.175 0.529 0.276 14.309 0.658 . ENSG00000261054.1|ENSG00000182253.10|ENSG00000168904.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Whole_Blood 0.1112 0.1002 0.0571 0.1373 0.3033 0.1081 0.0904 0.1053 0.1389 0.1097 0.1073 0.0574 0.1457 0.2881 0.1110 0.0938 0.1100 het 2403.86 215 15 99669628 . A T 2403.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.495;DP=215;Dels=0.00;FS=1.769;HRun=0;HaplotypeScore=4.5711;MQ=58.77;MQ0=0;MQRankSum=0.011;QD=11.18;ReadPosRankSum=1.082;VQSLOD=5.3039;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,95:215:99:2434,0,3377 15 99670161 99670161 C T exonic SYNM unknown UNKNOWN 0.13 0.048 0.063 0.27 0.11 0.17 0.1138 0.0580 0.0551 0.3102 0.1060 0.0996 0.1010 0.1481 0.076 0.052 0.087 0.14 . rs3134586 COSM3999698;COSM3999699 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1085 0.0550 0.0540 0.1486 0.3062 0.1084 0.0901 0.1028 0.1385 0.0954 0.0548 0.0562 0.1656 0.2912 0.1113 0.0940 0.1102 het 864.28 68 15 99670161 . C T 864.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.660;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3883;MQ=59.32;MQ0=0;MQRankSum=1.804;QD=12.71;ReadPosRankSum=0.069;VQSLOD=4.4238;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:894,0,941 15 99670278 99670278 C T exonic SYNM unknown UNKNOWN 0.15 0.1 0.079 0.27 0.13 0.18 0.1322 0.1045 0.0683 0.3 0.1203 0.1209 0.1137 0.1575 0.11 0.095 0.11 0.15 . rs3134587 COSM5740475;COSM5740474 1(small_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1294 0.1060 0.0687 0.1703 0.3026 0.1283 0.1144 0.1289 0.1520 0.1264 0.1118 0.0656 0.1887 0.2869 0.1285 0.1192 0.1281 het 934.15 79 15 99670278 . C T 934.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.352;DP=79;Dels=0.00;FS=0.870;HRun=0;HaplotypeScore=5.3644;MQ=59.45;MQ0=0;MQRankSum=1.659;QD=11.82;ReadPosRankSum=0.087;VQSLOD=5.2087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:964,0,1064 15 99670989 99670989 T C exonic SYNM unknown UNKNOWN 0.79 0.96 0.75 0.71 0.75 0.73 0.7512 0.9259 0.7183 0.7291 0.7016 0.7463 0.7467 0.7216 0.8 0.93 0.74 0.73 . rs3743248 COSM4128609;COSM4128608 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7454 0.9291 0.7141 0.7287 0.7316 0.7142 0.7461 0.7381 0.7224 0.7866 0.9202 0.7022 0.7616 0.7226 0.7147 0.7427 0.7112 hom 2591.82 78 15 99670989 . T C 2591.82 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=33.23;VQSLOD=9.6130;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2625,202,0 15 99671760 99671760 T C exonic SYNM unknown UNKNOWN 0.77 0.88 0.74 0.73 0.75 0.72 0.7473 0.8706 0.7166 0.7386 0.7043 0.7482 0.7506 0.7141 0.78 0.87 0.74 0.7 . rs260087 COSM4128612;COSM4128613 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7406 0.8716 0.7101 0.7287 0.7405 0.7124 0.7461 0.7374 0.7114 0.7711 0.8635 0.6902 0.7616 0.7417 0.7142 0.7427 0.7061 hom 868.47 29 15 99671760 . T C 868.47 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.95;VQSLOD=13.7373;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:69.22:901,69,0 15 99672722 99672722 A G exonic SYNM unknown UNKNOWN 0.48 0.3 0.48 0.63 0.53 0.53 0.4947 0.3187 0.4104 0.6622 0.5030 0.5135 0.5167 0.4907 0.43 0.31 0.49 0.45 . rs2292288 COSM4128614 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 1 0.198 P . . . . . . . . . 0.147 0.174 -0.964 0.385 T 0.000 0.000 T . . . -0.025 0.091 2.357 0.534 0.048 0.001 0.004 N c -0.682 -0.746 1.000 0.747 0.615 0.372 0 4.51 0.544 1.618 0.363 0.077 0.185 0.221 0.243 0.014 0.122 9.774 0.396 . ENSG00000261054.1|ENSG00000182253.10|ENSG00000261616.1|ENSG00000103852.8|ENSG00000103852.8|ENSG00000182253.10|ENSG00000261054.1|ENSG00000182253.10|ENSG00000103852.8 Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Cells_Transformed_fibroblasts|Nerve_Tibial|Nerve_Tibial|Pituitary 0.4926 0.3139 0.4167 0.4995 0.6692 0.5085 0.5107 0.4995 0.4856 0.4574 0.3124 0.4211 0.5331 0.6722 0.5052 0.5060 0.4887 hom 8599.68 250 15 99672722 . A G 8599.68 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.8754;MQ=59.44;MQ0=0;QD=34.40;VQSLOD=7.4551;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8599,671,0 15 99715352 99715352 A G exonic TTC23 synonymous SNV TTC23:NM_001288616:exon8:c.T768C:p.L256L,TTC23:NM_001288615:exon10:c.T768C:p.L256L 0.86 0.96 0.78 0.94 0.79 0.75 0.7947 0.9322 0.7725 0.9341 0.8107 0.7724 0.7980 0.7336 0.82 0.93 0.76 0.79 0.78 rs2602016 COSM5037695;COSM5037694 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7917 0.9330 0.7714 0.7876 0.9410 0.8156 0.7675 0.7840 0.7330 0.8296 0.9244 0.7601 0.8113 0.9475 0.8231 0.7706 0.7803 hom 2581.70 83 15 99715352 . A G 2581.70 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=31.10;VQSLOD=9.1795;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:83:99:2615,202,0 15 100246936 100246936 T C exonic MEF2A synonymous SNV MEF2A:NM_001130928:exon6:c.T657C:p.N219N,MEF2A:NM_001130926:exon8:c.T861C:p.N287N,MEF2A:NM_001130927:exon8:c.T681C:p.N227N,MEF2A:NM_005587:exon9:c.T867C:p.N289N,MEF2A:NM_001171894:exon10:c.T861C:p.N287N,MEF2A:NM_001319206:exon10:c.T885C:p.N295N 0.61 0.21 0.64 0.71 0.79 0.86 0.7471 0.2856 0.6601 0.7319 0.8242 0.7970 0.8256 0.8523 0.64 0.32 0.79 0.56 . rs325408 COSM3999441;COSM3999439;COSM3999440 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7522 0.2774 0.6686 0.8604 0.7343 0.8236 0.7934 0.7773 0.8484 0.6476 0.2872 0.6974 0.8477 0.7153 0.8232 0.7910 0.8086 hom 2318.85 71 15 100246936 . T C 2318.85 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;QD=32.66;VQSLOD=9.7467;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2352,187,0 15 100246942 100246942 G A exonic MEF2A synonymous SNV MEF2A:NM_001130928:exon6:c.G663A:p.Q221Q,MEF2A:NM_001130926:exon8:c.G867A:p.Q289Q,MEF2A:NM_001130927:exon8:c.G687A:p.Q229Q,MEF2A:NM_005587:exon9:c.G873A:p.Q291Q,MEF2A:NM_001171894:exon10:c.G867A:p.Q289Q,MEF2A:NM_001319206:exon10:c.G891A:p.Q297Q 0.89 0.59 0.97 1. 1. 1. 0.9669 0.6264 0.9823 0.9999 1 0.9983 0.9878 0.9996 0.89 0.65 1. 0.84 . rs325407 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9723 0.6181 0.9814 0.9972 1 1 0.9979 0.9847 0.9993 0.8929 0.6237 0.9821 1 1 1 0.9985 0.9868 hom 2450.03 77 15 100246942 . G A 2450.03 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.10;MQ0=0;QD=31.82;VQSLOD=9.1123;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2483,196,0 15 100269680 100269680 G C exonic LYSMD4 nonsynonymous SNV LYSMD4:NM_001284420:exon2:c.C356G:p.A119G,LYSMD4:NM_001284417:exon3:c.C539G:p.A180G,LYSMD4:NM_001284418:exon3:c.C539G:p.A180G,LYSMD4:NM_001284421:exon4:c.C161G:p.A54G,LYSMD4:NM_001284419:exon5:c.C527G:p.A176G,LYSMD4:NM_001284422:exon5:c.C161G:p.A54G,LYSMD4:NM_152449:exon6:c.C542G:p.A181G 0.38 0.073 0.45 0.37 0.59 0.54 0.5391 0.1468 0.5171 0.4053 0.6273 0.6070 0.5760 0.5600 0.46 0.16 0.61 0.38 0.46 rs2061007 . . . . . . . . . . . . . 0.039 0.424 D 0.991 0.670 D 0.852 0.590 P 0.000 0.481 D 0.922 0.327 P 2.89 0.840 M 1.99 0.217 T -3.13 0.647 D 0.093 0.244 -0.937 0.432 T 0.000 0.000 T . . . 2.713 0.387 20.9 0.974 0.330 0.887 0.485 D c -0.321 -0.493 1.000 0.462 0.706 0.609 0 2.2 0.268 0.848 0.272 -0.257 0.089 0.042 0.209 0.069 0.175 10.647 0.446 . ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11|ENSG00000183060.11 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.5461 0.1399 0.5209 0.6330 0.4010 0.6342 0.6033 0.5722 0.5529 0.4683 0.1583 0.5397 0.5927 0.4012 0.6188 0.6066 0.5890 het 1959.46 152 15 100269680 . G C 1959.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.135;DP=152;Dels=0.00;FS=3.884;HRun=1;HaplotypeScore=6.4589;MQ=59.85;MQ0=0;MQRankSum=0.441;QD=12.89;ReadPosRankSum=-1.662;VQSLOD=4.0206;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,72:152:99:1989,0,2355 15 100269796 100269796 A G exonic LYSMD4 synonymous SNV LYSMD4:NM_001284420:exon2:c.T240C:p.S80S,LYSMD4:NM_001284417:exon3:c.T423C:p.S141S,LYSMD4:NM_001284418:exon3:c.T423C:p.S141S,LYSMD4:NM_001284421:exon4:c.T45C:p.S15S,LYSMD4:NM_001284419:exon5:c.T411C:p.S137S,LYSMD4:NM_001284422:exon5:c.T45C:p.S15S,LYSMD4:NM_152449:exon6:c.T426C:p.S142S 0.97 0.87 0.99 1. 1. 1. 0.9899 0.8917 0.9942 0.9999 1 0.9996 0.9967 0.9996 0.96 0.88 1. 0.97 1. rs6598264 COSM4909360;COSM4148337 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9916 0.8856 0.9938 0.9999 0.9999 1 0.9994 0.9964 0.9995 0.9677 0.8873 0.9940 1 1 1 0.9993 0.9959 hom 4317.59 147 15 100269796 . A G 4317.59 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3983;MQ=58.65;MQ0=0;QD=29.37;VQSLOD=8.4375;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4317,340,0 15 100514614 100514614 T C exonic ADAMTS17 nonsynonymous SNV ADAMTS17:NM_139057:exon22:c.A3281G:p.N1094S 0.68 0.84 0.57 0.56 0.67 0.69 0.6617 0.8123 0.5388 0.5611 0.7462 0.6634 0.6542 0.6655 0.71 0.81 0.67 0.72 0.72 rs2573652 COSM1375652 1(liver);1(thyroid) Benign Weill-Marchesani-like_syndrome RCV000326224.1 MedGen:OMIM:Orphanet C2750787:613195:ORPHA363992 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.105 0.196 N 1 0.090 P 0 0.065 N 0.18 0.604 T 0.13 0.055 N 0.018 0.012 -0.999 0.301 T 0.000 0.000 T . . . -0.827 0.039 0.037 0.532 0.048 0.032 0.081 N c -0.687 -0.518 0.980 0.300 0.554 0.246 0 4.09 0.469 2.557 0.453 0.069 0.176 1.000 0.715 0.057 0.169 10.439 0.434 . ENSG00000254744.3|ENSG00000254744.3|ENSG00000254744.3|ENSG00000140470.9|ENSG00000254744.3|ENSG00000254744.3|ENSG00000254744.3|ENSG00000254744.3|ENSG00000254744.3|ENSG00000254744.3|ENSG00000254744.3|ENSG00000254744.3|ENSG00000140470.9 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.6577 0.8134 0.5471 0.6370 0.5647 0.7499 0.6656 0.6472 0.6660 0.7113 0.8135 0.5706 0.6490 0.5797 0.7463 0.6681 0.6936 hom 4014.08 128 15 100514614 . T C 4014.08 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.541;DP=128;Dels=0.00;FS=3.479;HRun=0;HaplotypeScore=2.8305;MQ=57.54;MQ0=0;MQRankSum=1.459;QD=31.36;ReadPosRankSum=1.405;VQSLOD=4.4098;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,126:128:99:3982,306,0 15 100636586 100636586 G A exonic ADAMTS17 synonymous SNV ADAMTS17:NM_139057:exon15:c.C2112T:p.G704G 0.26 0.25 0.29 0.5 0.13 0.16 0.1877 0.2345 0.3003 0.4887 0.1525 0.1350 0.1784 0.1497 0.17 0.23 0.13 0.25 0.18 rs4965583 COSM3999450 2(haematopoietic_and_lymphoid_tissue) Benign Weill-Marchesani-like_syndrome RCV000278280.1 MedGen:OMIM:Orphanet C2750787:613195:ORPHA363992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1936 0.2318 0.2999 0.2165 0.4881 0.1564 0.1294 0.1830 0.1478 0.1875 0.2394 0.2763 0.1887 0.4913 0.1490 0.1303 0.1622 het 2752.05 220 15 100636586 . G A 2752.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.240;DP=220;DS;Dels=0.00;FS=1.746;HRun=0;HaplotypeScore=4.2109;MQ=59.96;MQ0=0;MQRankSum=0.377;QD=12.51;ReadPosRankSum=-0.197;VQSLOD=5.4215;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,106:220:99:2782,0,3021 15 100672237 100672237 T G exonic ADAMTS17 synonymous SNV ADAMTS17:NM_139057:exon12:c.A1696C:p.R566R 1. 0.99 1. 1. 1. 1. 0.9995 0.9946 0.9998 1 1 1.0000 1 1 1. 1. 1. 0.99 0.97 rs12907333 COSM4148338 1(thyroid) Benign Weill-Marchesani-like_syndrome RCV000353513.1 MedGen:OMIM:Orphanet C2750787:613195:ORPHA363992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9952 0.9999 1 1 1 1.0000 1 1.0000 0.9987 0.9955 1 1 1 1 0.9999 1 hom 1276.80 39 15 100672237 . T G 1276.80 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;QD=32.74;VQSLOD=9.0599;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1310,108,0 15 100692845 100692845 A G exonic ADAMTS17 nonsynonymous SNV ADAMTS17:NM_139057:exon10:c.T1445C:p.M482T 0.15 0.2 0.086 0.067 0.14 0.2 0.1456 0.2076 0.0777 0.0530 0.0972 0.1534 0.1344 0.1913 0.17 0.2 0.15 0.22 0.2 rs28567966 COSM4984851 3(soft_tissue) Likely benign Weill-Marchesani-like_syndrome RCV000291403.1 MedGen:OMIM:Orphanet C2750787:613195:ORPHA363992 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.421 N 1.000 0.090 P -1.67 0.004 N 3.92 0.035 T 2.13 0.004 N 0.035 0.018 -0.927 0.447 T 0.000 0.000 T . . . -0.243 0.073 0.887 0.286 0.015 0.176 0.197 N c -0.996 -0.761 0.556 0.214 0.554 0.283 0 2.64 0.304 2.596 0.456 -0.324 0.076 1.000 0.715 0.724 0.315 8.434 0.318 ADAM\x2c cysteine-rich . . 0.1410 0.2096 0.0837 0.2216 0.0548 0.0913 0.1494 0.1491 0.1958 0.1507 0.1951 0.0967 0.2086 0.0593 0.0993 0.1488 0.1478 het 2394.12 245 15 100692845 . A G 2394.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.934;DP=245;DS;Dels=0.00;FS=1.578;HRun=0;HaplotypeScore=6.4130;MQ=59.37;MQ0=0;MQRankSum=-0.032;QD=9.77;ReadPosRankSum=0.943;VQSLOD=4.3114;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,102:245:99:2424,0,3750 15 100692953 100692953 G A exonic ADAMTS17 nonsynonymous SNV ADAMTS17:NM_139057:exon10:c.C1337T:p.T446I 0.031 0.0045 0.045 . 0.1 0.011 0.0726 0.0158 0.0318 0.0009 0.1131 0.1064 0.0738 0.0216 0.074 0.017 0.1 0.011 0.12 rs72755233 . . Likely benign Weill-Marchesani-like_syndrome RCV000342646.1 MedGen:OMIM:Orphanet C2750787:613195:ORPHA363992 . . . . . . 0.015 0.524 D 0.072 0.284 B 0.071 0.283 B 0.059 0.224 N 0.881 0.357 D 0.62 0.158 N 4.0 0.033 T -1.69 0.402 N 0.085 0.088 -0.760 0.574 T 0.000 0.001 T . . . 2.674 0.382 20.6 0.986 0.436 0.833 0.422 D c -0.106 0.048 0.898 0.260 0.554 0.283 0 4.6 0.564 1.509 0.352 0.953 0.551 0.973 0.343 0.916 0.392 13.026 0.580 Metallopeptidase\x2c catalytic domain|Peptidase M12B\x2c ADAM/reprolysin . . 0.0710 0.0143 0.0314 0.0392 0.0008 0.1221 0.1074 0.0742 0.0226 0.0780 0.0171 0.0359 0.0430 0.0012 0.1173 0.1150 0.0898 het 1969.75 103 15 100692953 . G A 1969.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.472;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6475;MQ=59.78;MQ0=0;MQRankSum=-0.061;QD=19.12;ReadPosRankSum=-1.115;VQSLOD=4.2484;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,71:103:99:2000,0,846 15 100794363 100794363 C T exonic ADAMTS17 synonymous SNV ADAMTS17:NM_139057:exon7:c.G1053A:p.K351K 0.82 0.86 0.76 0.88 0.73 0.85 0.7556 0.8335 0.7262 0.8721 0.7716 0.7171 0.7561 0.8148 0.75 0.82 0.71 0.86 0.75 rs4369638 . . Benign Weill-Marchesani-like_syndrome RCV000368879.1 MedGen:OMIM:Orphanet C2750787:613195:ORPHA363992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7514 0.8337 0.7328 0.6734 0.8724 0.7786 0.7123 0.7338 0.8133 0.7688 0.8382 0.7201 0.7219 0.8578 0.7675 0.7234 0.7592 het 940.86 68 15 100794363 . C T 940.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.527;DP=68;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9332;MQ=59.08;MQ0=0;MQRankSum=-0.308;QD=13.84;ReadPosRankSum=-1.675;VQSLOD=5.7909;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,37:68:99:971,0,779 15 100801698 100801698 G A exonic ADAMTS17 synonymous SNV ADAMTS17:NM_139057:exon6:c.C1017T:p.A339A 0.69 0.7 0.71 0.62 0.69 0.74 0.6826 0.6950 0.6450 0.6263 0.7640 0.6747 0.6784 0.7297 0.67 0.69 0.67 0.71 0.66 rs4965613 . . Benign Weill-Marchesani-like_syndrome RCV000274222.1 MedGen:OMIM:Orphanet C2750787:613195:ORPHA363992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6808 0.6933 0.6586 0.5563 0.6237 0.7675 0.6754 0.6722 0.7288 0.6949 0.6977 0.6555 0.5927 0.6356 0.7536 0.6894 0.7076 het 1369.24 128 15 100801698 . G A 1369.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.663;DP=128;Dels=0.00;FS=2.300;HRun=0;HaplotypeScore=3.9580;MQ=59.25;MQ0=0;MQRankSum=0.927;QD=10.70;ReadPosRankSum=0.762;VQSLOD=6.0267;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,58:128:99:1399,0,1633 15 100821467 100821467 G A exonic ADAMTS17 synonymous SNV ADAMTS17:NM_139057:exon4:c.C756T:p.A252A 0.5 0.5 0.56 0.51 0.35 0.61 0.4296 0.4909 0.6226 0.5405 0.3336 0.3425 0.4096 0.5869 0.39 0.49 0.33 0.49 0.33 rs7496640 COSM433587 2(urinary_tract);1(liver) Benign Weill-Marchesani-like_syndrome RCV000322067.1 MedGen:OMIM:Orphanet C2750787:613195:ORPHA363992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4332 0.4880 0.6165 0.3628 0.5356 0.3286 0.3364 0.4194 0.5844 0.3935 0.4855 0.5622 0.3907 0.5461 0.3261 0.3306 0.3849 het 2377.57 154 15 100821467 . G A 2377.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.143;DP=154;Dels=0.00;FS=3.102;HRun=0;HaplotypeScore=2.8575;MQ=58.39;MQ0=0;MQRankSum=1.869;QD=15.44;ReadPosRankSum=-1.954;VQSLOD=4.4884;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,88:154:99:2408,0,1551 15 100942962 100942962 T C exonic CERS3 nonsynonymous SNV CERS3:NM_001290342:exon13:c.A1108G:p.R370G,CERS3:NM_001290343:exon13:c.A1108G:p.R370G,CERS3:NM_178842:exon13:c.A1108G:p.R370G,CERS3:NM_001290341:exon14:c.A1141G:p.R381G 0.99 0.95 1. 1. 1. 1. 0.9956 0.9522 0.9980 0.9997 0.9997 0.9999 0.9956 0.9998 0.98 0.95 1. 0.99 0.98 rs2439928 . . . . . . . . . . . . . 0.49 0.080 T 0.0 0.026 B 0.0 0.013 B 0.236 0.158 N 1 0.090 P -2.125 0.001 N 3.29 0.065 T 0.9 0.016 N 0.033 0.024 -0.987 0.334 T 0.000 0.000 T . . . 0.404 0.133 6.646 0.746 0.104 0.000 0.004 N c -1.083 -1.001 0.018 0.131 0.554 0.246 0 3.36 0.374 1.125 0.307 0.040 0.155 0.017 0.192 0.295 0.236 7.933 0.289 . . . 0.9966 0.9533 0.9978 1 0.9998 0.9999 0.9999 0.9965 0.9998 0.9880 0.9581 0.9988 1 0.9994 1 0.9999 0.9980 hom 2110.95 74 15 100942962 . T C 2110.95 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9983;MQ=59.18;MQ0=0;QD=28.53;VQSLOD=8.5780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2144,172,0 15 101041896 101041896 T C exonic CERS3 synonymous SNV CERS3:NM_001290342:exon4:c.A159G:p.R53R,CERS3:NM_001290343:exon4:c.A159G:p.R53R,CERS3:NM_178842:exon4:c.A159G:p.R53R,CERS3:NM_001290341:exon5:c.A192G:p.R64R 0.77 0.49 0.8 0.93 0.89 0.86 0.8459 0.5494 0.8059 0.9217 0.8523 0.8841 0.8447 0.8641 0.77 0.55 0.88 0.81 0.76 rs1354332 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8486 0.5472 0.8047 0.8676 0.9276 0.8455 0.8855 0.8499 0.8646 0.7904 0.5617 0.8186 0.8477 0.9241 0.8578 0.8858 0.8582 hom 2786.17 95 15 101041896 . T C 2786.17 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;QD=29.33;VQSLOD=8.9495;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2819,211,0 15 101109677 101109677 C A exonic LINS1 nonsynonymous SNV LINS1:NM_001040616:exon7:c.G2040T:p.R680S 0.31 0.24 0.25 0.25 0.45 0.38 0.3850 0.2752 0.1816 0.2096 0.4098 0.4580 0.3742 0.3838 0.41 0.28 0.47 0.34 0.47 rs8451 COSM147993 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . 0.325 0.133 T 0.023 0.176 B 0.013 0.154 B 0.204 0.165 N 1 0.090 P 1.3 0.327 L 2.93 0.098 T -0.95 0.253 N 0.035 0.126 -0.928 0.444 T 0.000 0.000 T . . . 0.803 0.171 9.486 0.945 0.243 0.189 0.202 N c -0.905 -0.907 0.055 0.150 0.707 0.730 0 0.38 0.154 -0.576 0.059 -0.065 0.121 0.000 0.063 0.627 0.294 5.997 0.186 . ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259540.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259540.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.3784 0.2698 0.1891 0.3748 0.2093 0.4127 0.4672 0.3948 0.3850 0.3834 0.2730 0.2254 0.4139 0.2268 0.4078 0.4663 0.3969 het 988.76 80 15 101109677 . C A 988.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.228;DP=80;Dels=0.00;FS=6.120;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-0.895;QD=12.36;ReadPosRankSum=0.828;VQSLOD=5.3060;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,39:80:99:1019,0,1120 15 101109683 101109683 T C exonic LINS1 synonymous SNV LINS1:NM_001040616:exon7:c.A2034G:p.P678P 0.009 0.0015 0.022 . 0.026 0.002 0.0165 0.0041 0.0179 0 0.0124 0.0237 0.0253 0.0038 0.018 0.0036 0.025 0.022 0.025 rs1047320 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0175 0.0032 0.0175 0.0319 0 0.0159 0.0247 0.0212 0.0039 0.0172 0.0042 0.0143 0.0331 0 0.0158 0.0270 0.0133 het 993.02 75 15 101109683 . T C 993.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.967;DP=75;Dels=0.00;FS=8.171;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=1.267;QD=13.24;ReadPosRankSum=-1.055;VQSLOD=4.0705;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,39:75:99:1023,0,975 15 101109794 101109794 C G exonic LINS1 nonsynonymous SNV LINS1:NM_001040616:exon7:c.G1923C:p.E641D 0.31 0.24 0.25 0.24 0.45 0.38 0.3848 0.2748 0.1816 0.2095 0.4097 0.4579 0.3733 0.3837 0.41 0.28 0.47 0.34 0.48 rs12157 COSM3999451 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.884 0.072 N 1 0.090 P -1.3 0.007 N 2.78 0.113 T 0.11 0.057 N 0.003 0.001 -0.923 0.452 T 0.000 0.000 T . . . -0.495 0.056 0.226 0.110 0.002 0.009 0.035 N c -1.429 -1.336 0.953 0.280 0.707 0.730 0 0.695 0.172 -0.025 0.123 -0.352 0.070 0.000 0.063 0.002 0.062 2.189 0.036 . ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259540.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259540.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.3784 0.2703 0.1892 0.3750 0.2096 0.4128 0.4671 0.3949 0.3850 0.3831 0.2735 0.2255 0.4133 0.2249 0.4072 0.4657 0.3957 het 1615.19 150 15 101109794 . C G 1615.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.138;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6522;MQ=59.60;MQ0=0;MQRankSum=0.142;QD=10.77;ReadPosRankSum=0.074;VQSLOD=5.9243;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,66:150:99:1645,0,2211 15 101109818 101109818 G A exonic LINS1 synonymous SNV LINS1:NM_001040616:exon7:c.C1899T:p.D633D 0.46 0.37 0.43 0.49 0.54 0.47 0.5056 0.3886 0.3661 0.4987 0.4858 0.5527 0.5022 0.4985 0.5 0.39 0.56 0.48 0.54 rs12460 COSM4148339 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5047 0.3855 0.3761 0.5816 0.4954 0.4914 0.5569 0.5272 0.5013 0.4859 0.3789 0.3759 0.6093 0.5260 0.4928 0.5445 0.5061 het 1579.69 155 15 101109818 . G A 1579.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.489;DP=155;Dels=0.00;FS=5.946;HRun=0;HaplotypeScore=6.2199;MQ=59.46;MQ0=0;MQRankSum=-0.306;QD=10.19;ReadPosRankSum=0.238;VQSLOD=4.5606;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,65:155:99:1610,0,2282 15 101109893 101109893 C A exonic LINS1 synonymous SNV LINS1:NM_001040616:exon7:c.G1824T:p.G608G 0.31 0.24 0.25 0.25 0.45 0.38 0.3848 0.2743 0.1815 0.2098 0.4097 0.4579 0.3733 0.3837 0.41 0.28 0.47 0.34 0.48 rs6598356 COSM3999452 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3781 0.2697 0.1888 0.3737 0.2100 0.4124 0.4669 0.3936 0.3847 0.3827 0.2726 0.2261 0.4139 0.2252 0.4072 0.4652 0.3955 het 1147.50 119 15 101109893 . C A 1147.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.262;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6106;MQ=58.65;MQ0=0;MQRankSum=0.873;QD=9.64;ReadPosRankSum=0.614;VQSLOD=4.0888;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,50:119:99:1177,0,1928 15 101110265 101110265 T A exonic LINS1 synonymous SNV LINS1:NM_001040616:exon7:c.A1452T:p.T484T 0.31 0.24 0.25 0.25 0.45 0.38 0.3860 0.2781 0.1811 0.2083 0.4105 0.4595 0.3776 0.3859 0.41 0.28 0.47 0.34 0.48 rs2411836 COSM147994 1(stomach);3(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3664 0.2689 0.1795 0.3409 0.2025 0.3976 0.4561 0.3812 0.3622 0.3831 0.2734 0.2261 0.4139 0.2239 0.4072 0.4657 0.3949 het 970.40 77 15 101110265 . T A 970.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.848;DP=77;Dels=0.00;FS=3.237;HRun=0;HaplotypeScore=0.9958;MQ=58.49;MQ0=0;MQRankSum=-1.808;QD=12.60;ReadPosRankSum=-0.423;VQSLOD=4.4923;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,39:77:99:1000,0,972 15 101110302 101110302 C G exonic LINS1 nonsynonymous SNV LINS1:NM_001040616:exon7:c.G1415C:p.S472T 0.25 0.12 0.22 0.23 0.42 0.33 0.3438 0.1563 0.1589 0.1874 0.3890 0.4208 0.3460 0.3395 0.34 0.16 0.43 0.23 0.45 rs2411837 COSM147995 1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.062 0.369 T 0.372 0.323 B 0.114 0.302 B 0.950 0.076 N 1 0.090 P 2.25 0.640 M 2.22 0.182 T -1.13 0.291 N 0.012 0.012 -0.912 0.466 T 0.000 0.000 T . . . 0.690 0.160 8.760 0.800 0.126 0.224 0.215 N c -0.580 -0.623 0.991 0.324 0.732 0.924 0 1.52 0.221 -0.415 0.071 0.852 0.362 0.000 0.063 0.809 0.339 8.292 0.309 Protein Lines\x2c N-terminal ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3273 0.1431 0.1553 0.2943 0.1799 0.3826 0.4236 0.3377 0.3224 0.3269 0.1546 0.1981 0.3543 0.1983 0.3861 0.4317 0.3612 het 1131.93 87 15 101110302 . C G 1131.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.352;DP=87;Dels=0.00;FS=0.813;HRun=1;HaplotypeScore=1.8930;MQ=58.66;MQ0=0;MQRankSum=-0.454;QD=13.01;ReadPosRankSum=0.794;VQSLOD=5.8778;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,43:87:99:1162,0,1079 15 101113862 101113862 C T exonic LINS1 nonsynonymous SNV LINS1:NM_001040616:exon5:c.G1216A:p.V406M 0.9 0.94 0.97 0.63 1. 0.94 0.9542 0.9519 0.9649 0.6076 0.9894 0.9915 0.9591 0.9623 0.98 0.95 0.99 0.95 0.91 rs12719734 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.113 0.193 N 1.000 0.090 P -2.175 0.001 N 1.92 0.231 T 0.62 0.024 N 0.017 0.092 -0.968 0.375 T 0.000 0.000 T . . . 0.644 0.155 8.458 0.054 0.000 0.023 0.066 N c -0.850 -0.570 0.386 0.200 0.707 0.730 0 4.86 0.625 1.829 0.385 0.119 0.209 1.000 0.715 0.987 0.523 10.331 0.428 Protein Lines\x2c N-terminal . . 0.9537 0.9511 0.9680 0.9470 0.6013 0.9865 0.9949 0.9693 0.9647 0.9622 0.9522 0.9630 0.9503 0.6306 0.9897 0.9963 0.9806 hom 1416.71 43 15 101113862 . C T 1416.71 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.58;MQ0=0;QD=32.95;VQSLOD=9.3557;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1450,117,0 15 101113950 101113950 A G exonic LINS1 synonymous SNV LINS1:NM_001040616:exon5:c.T1128C:p.S376S 0.33 0.3 0.25 0.25 0.45 0.38 0.3885 0.3136 0.1827 0.2096 0.4096 0.4583 0.3764 0.3841 0.42 0.32 0.47 0.36 0.5 rs12592868 COSM3999453;COSM147996 1(stomach);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3812 0.3090 0.1906 0.3753 0.2095 0.4127 0.4674 0.3971 0.3852 0.3940 0.3110 0.2279 0.4139 0.2262 0.4074 0.4660 0.3971 het 1656.42 147 15 101113950 . A G 1656.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.944;DP=147;Dels=0.00;FS=0.644;HRun=2;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=0.420;QD=11.27;ReadPosRankSum=-0.916;VQSLOD=6.1398;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,64:147:99:1686,0,2190 15 101114418 101114418 G A exonic LINS1 synonymous SNV LINS1:NM_001040616:exon5:c.C660T:p.F220F 0.31 0.25 0.25 0.25 0.45 0.38 0.3867 0.2855 0.1821 0.2104 0.4098 0.4588 0.3789 0.3840 0.4 0.27 0.46 0.34 0.48 rs8039437 COSM3722371;COSM3722370 3(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3785 0.2765 0.1895 0.3751 0.2093 0.4124 0.4671 0.3953 0.3844 0.3856 0.2802 0.2273 0.4139 0.2268 0.4078 0.4665 0.3967 het 644.88 46 15 101114418 . G A 644.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.602;DP=46;Dels=0.00;FS=1.263;HRun=3;HaplotypeScore=0.6651;MQ=58.68;MQ0=0;MQRankSum=0.245;QD=14.02;ReadPosRankSum=-0.089;VQSLOD=6.2925;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,27:46:99:675,0,509 15 101120963 101120963 T C exonic LINS1 nonsynonymous SNV LINS1:NM_001040616:exon2:c.A85G:p.I29V 0.3 0.19 0.25 0.25 0.45 0.38 0.3836 0.2247 0.1821 0.2103 0.4114 0.4608 0.3792 0.3903 0.39 0.23 0.47 0.33 0.43 rs11247226 COSM3936696;COSM3936697 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.725 0.066 T 0.005 0.119 B 0.002 0.104 B 0.734 0.064 N 1 0.090 P -0.06 0.049 N 1.84 0.247 T 0.02 0.093 N 0.035 0.219 -0.916 0.461 T 0.000 0.000 T . . . -2.122 0.007 0.001 0.578 0.057 0.014 0.048 N c -1.321 -1.337 0.251 0.187 0.707 0.730 0 -4.72 0.030 -2.762 0.009 0.081 0.190 0.000 0.063 0.935 0.408 10.885 0.460 . ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259540.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259540.1|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000140471.12|ENSG00000251819.1|ENSG00000259205.2|ENSG00000259540.1|ENSG00000270127.1|ENSG00000140471.12|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000259205.2|ENSG00000270127.1|ENSG00000140471.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.3749 0.2162 0.1864 0.3748 0.2097 0.4131 0.4671 0.3920 0.3878 0.3677 0.2174 0.2231 0.4139 0.2268 0.4078 0.4663 0.3943 het 771.48 43 15 101120963 . T C 771.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.124;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=59.13;MQ0=0;MQRankSum=-0.934;QD=17.94;ReadPosRankSum=-0.420;VQSLOD=6.4009;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,31:43:99:801,0,254 15 101464915 101464915 T C exonic LRRK1 synonymous SNV LRRK1:NM_024652:exon2:c.T78C:p.R26R 0.34 0.69 0.18 0.13 0.24 0.3 0.2657 0.6214 0.1197 0.1105 0.2029 0.2566 0.2108 0.2909 0.38 0.61 0.26 0.4 0.26 rs11630691 COSM1128150 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2539 0.6209 0.1285 0.3024 0.1179 0.2106 0.2576 0.2393 0.2905 0.3335 0.5976 0.1631 0.2517 0.1216 0.2053 0.2507 0.2290 het 658.62 84 15 101464915 . T C 658.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.575;DP=84;Dels=0.00;FS=0.961;HRun=0;HaplotypeScore=2.5900;MQ=59.50;MQ0=0;MQRankSum=-0.553;QD=7.84;ReadPosRankSum=0.161;VQSLOD=5.9582;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,31:84:99:689,0,1392 15 101562793 101562793 G A exonic LRRK1 synonymous SNV LRRK1:NM_024652:exon15:c.G2058A:p.S686S 0.73 0.38 0.87 0.82 0.87 0.88 0.8375 0.4602 0.8802 0.8395 0.8883 0.8576 0.8642 0.8970 0.72 0.45 0.85 0.64 0.71 rs11247253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8342 0.4157 0.8704 0.8398 0.8311 0.8888 0.8525 0.8337 0.8914 0.7392 0.4257 0.8561 0.8278 0.8408 0.8919 0.8592 0.8418 hom 491.74 14 15 101562793 . G A 491.74 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.12;VQSLOD=14.7800;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:525,42,0 15 101591923 101591923 A G exonic LRRK1 synonymous SNV LRRK1:NM_024652:exon24:c.A3447G:p.T1149T 0.45 0.13 0.6 0.8 0.41 0.46 0.4456 0.1571 0.6420 0.8068 0.5094 0.4019 0.4605 0.4390 0.31 0.15 0.39 0.36 0.35 rs4965778 COSM3754223;COSM3754222;COSM3754221 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4572 0.1547 0.6248 0.3315 0.8067 0.5131 0.4003 0.4433 0.4362 0.3753 0.1618 0.5877 0.3543 0.8157 0.5149 0.4034 0.4438 het 1370.80 115 15 101591923 . A G 1370.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.757;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9979;MQ=58.84;MQ0=0;MQRankSum=0.629;QD=11.92;ReadPosRankSum=0.244;VQSLOD=6.6359;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,58:115:99:1401,0,1530 15 101598200 101598200 G A exonic LRRK1 synonymous SNV LRRK1:NM_024652:exon29:c.G4533A:p.P1511P 0.32 0.31 0.28 0.13 0.45 0.42 0.4009 0.3261 0.2694 0.1416 0.3878 0.4565 0.41 0.4526 0.42 0.32 0.46 0.34 0.49 rs11857803 COSM3754227;COSM3754229;COSM3754228 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3967 0.3203 0.2807 0.5166 0.1399 0.3910 0.4572 0.4062 0.4502 0.3937 0.3310 0.3019 0.4868 0.1352 0.3960 0.4591 0.4201 het 1540.12 120 15 101598200 . G A 1540.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.591;DP=120;Dels=0.00;FS=2.446;HRun=0;HaplotypeScore=1.7608;MQ=59.65;MQ0=0;MQRankSum=-0.210;QD=12.83;ReadPosRankSum=0.024;VQSLOD=6.4854;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,59:120:99:1570,0,1500 15 101598314 101598314 C T exonic LRRK1 synonymous SNV LRRK1:NM_024652:exon29:c.C4647T:p.T1549T 0.31 0.28 0.28 0.13 0.44 0.42 0.3903 0.2980 0.2600 0.1456 0.375 0.4443 0.3978 0.4516 0.4 0.29 0.45 0.34 0.48 rs11853661 COSM3765775;COSM3765777;COSM3765776 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3865 0.2937 0.2720 0.5046 0.1431 0.3781 0.4446 0.3930 0.4501 0.3775 0.3032 0.2936 0.4767 0.1372 0.3815 0.4468 0.4051 het 1150.24 95 15 101598314 . C T 1150.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.276;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=59.17;MQ0=0;MQRankSum=0.295;QD=12.11;ReadPosRankSum=-0.598;VQSLOD=6.4186;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,45:95:99:1180,0,1241 15 101606889 101606889 G A exonic LRRK1 nonsynonymous SNV LRRK1:NM_024652:exon33:c.G5813A:p.G1938D 0.27 0.079 0.36 0.34 0.32 0.35 0.3047 0.1047 0.3413 0.3610 0.3422 0.3133 0.3167 0.3182 0.24 0.1 0.3 . 0.26 rs2924835 COSM3736125;COSM3736124;COSM3736126 1(pancreas);1(skin) . . . . . . . . . . . 0.049 0.398 D 0.016 0.161 B 0.007 0.121 B 0.000 0.629 D 1.000 0.090 P 1.43 0.360 L -0.65 0.722 T -1.25 0.316 N 0.102 0.454 -1.100 0.041 T 0.000 0.000 T . . . 1.063 0.196 11.02 0.922 0.210 0.655 0.325 D c -0.186 -0.137 1.000 0.747 0.672 0.522 0 5.51 0.817 3.105 0.498 1.048 0.713 0.997 0.399 0.021 0.135 15.738 0.775 . . . 0.3089 0.1042 0.3336 0.2800 0.3587 0.3427 0.3150 0.3156 0.3173 0.2576 0.1044 0.3115 0.3079 0.3532 0.3446 0.3089 0.3125 het 2562.15 216 15 101606889 . G A 2562.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.706;DP=216;DS;Dels=0.00;FS=6.841;HRun=0;HaplotypeScore=6.5968;MQ=59.03;MQ0=0;MQRankSum=-0.277;QD=11.86;ReadPosRankSum=-0.762;VQSLOD=3.8246;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,101:216:99:2592,0,3161 15 101606890 101606890 C A exonic LRRK1 synonymous SNV LRRK1:NM_024652:exon33:c.C5814A:p.G1938G 0.27 0.079 0.36 0.34 0.32 0.35 0.3047 0.1047 0.3413 0.3611 0.3422 0.3132 0.3167 0.3183 0.24 0.1 0.3 . 0.26 rs2959197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3089 0.1042 0.3336 0.2800 0.3588 0.3428 0.3151 0.3153 0.3173 0.2576 0.1044 0.3115 0.3079 0.3532 0.3444 0.3089 0.3125 het 2577.99 214 15 101606890 . C A 2577.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.451;DP=214;DS;Dels=0.00;FS=10.473;HRun=0;HaplotypeScore=6.5968;MQ=59.02;MQ0=0;MQRankSum=-1.034;QD=12.05;ReadPosRankSum=-0.844;VQSLOD=3.4010;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,100:214:99:2608,0,2819 15 101717680 101717680 G T exonic CHSY1 synonymous SNV CHSY1:NM_014918:exon3:c.C2322A:p.T774T 0.76 0.9 0.64 0.9 0.56 0.72 0.6468 0.8640 0.6685 0.8799 0.6221 0.5726 0.6195 0.6838 0.66 0.86 0.56 0.81 0.57 rs8024370 COSM3754233 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6453 0.8698 0.6755 0.5350 0.8765 0.6381 0.5692 0.6383 0.6881 0.6786 0.8573 0.6635 0.5232 0.8691 0.6451 0.5679 0.6442 het 1765.62 124 15 101717680 . G T 1765.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.221;DP=124;Dels=0.00;FS=0.673;HRun=0;HaplotypeScore=5.1388;MQ=59.29;MQ0=0;MQRankSum=0.227;QD=14.24;ReadPosRankSum=-1.669;VQSLOD=4.8280;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,69:124:99:1796,0,1524 15 101718700 101718700 G A exonic CHSY1 synonymous SNV CHSY1:NM_014918:exon3:c.C1302T:p.Y434Y 0.041 0.013 0.032 0.019 0.08 0.069 0.0615 0.0186 0.0312 0.0068 0.0699 0.0777 0.0782 0.0684 0.059 0.021 0.078 0.043 0.082 rs2005180 COSM3754236 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0605 0.0174 0.0313 0.0543 0.0077 0.0649 0.0812 0.0592 0.0675 0.0554 0.0208 0.0443 0.0596 0.0062 0.0653 0.0790 0.0580 het 1892.89 124 15 101718700 . G A 1892.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.672;DP=124;Dels=0.00;FS=7.122;HRun=0;HaplotypeScore=2.5257;MQ=59.55;MQ0=0;MQRankSum=-1.272;QD=15.27;ReadPosRankSum=0.699;VQSLOD=4.4489;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,69:124:99:1923,0,1324 15 101924546 101924546 C T exonic PCSK6 unknown UNKNOWN 0.14 0.06 0.14 0.24 0.11 0.2 0.1362 0.08 0.1942 0.1996 0.0952 0.1120 0.1150 0.2109 0.1 0.081 0.11 0.18 . rs1135911 COSM4415101;COSM4415102;COSM4415103;COSM4415100 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1351 0.0778 0.1823 0.1018 0.1978 0.0918 0.1115 0.1196 0.2072 0.1051 0.0778 0.1770 0.1 0.2 0.0916 0.1101 0.1018 het 637.83 45 15 101924546 . C T 637.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.809;DP=45;Dels=0.00;FS=1.157;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.193;QD=14.17;ReadPosRankSum=-1.490;VQSLOD=6.1260;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,24:45:99:668,0,593 15 102192548 102192548 A C exonic TM2D3 nonsynonymous SNV TM2D3:NM_001307960:exon1:c.T17G:p.L6R,TM2D3:NM_001308026:exon1:c.T17G:p.L6R,TM2D3:NM_025141:exon1:c.T17G:p.L6R,TM2D3:NM_078474:exon1:c.T17G:p.L6R 0.99 1. 1. 1. 0.98 0.99 0.9798 0.9970 0.9948 0.9999 0.9337 0.9727 0.9693 0.9942 0.99 1. 0.98 0.84 0.75 rs2939587 COSM4148365 1(thyroid) . . . . . . . . . . . 0.311 0.139 T 0.0 0.026 B 0.0 0.013 B 0.047 0.020 N 1 0.090 P -0.345 0.033 N . . . -0.12 0.100 N 0.047 0.028 -1.015 0.254 T 0.000 0.000 T . . . -0.625 0.049 0.108 0.620 0.067 0.005 0.022 N c -1.527 -1.562 1.0 0.983 0.442 0.072 0 -3.54 0.043 -0.945 0.040 -1.051 0.020 0.000 0.063 0.000 0.016 3.136 0.060 . . . 0.9794 0.9973 0.9941 0.9940 1 0.9313 0.9738 0.9796 0.9946 0.9753 0.9959 0.9940 0.9967 0.9994 0.9366 0.9684 0.9724 hom 607.02 22 15 102192548 . A C 607.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.569;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=56.78;MQ0=0;MQRankSum=-1.569;QD=27.59;ReadPosRankSum=-1.073;VQSLOD=5.7380;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,21:22:60.14:640,60,0 15 102224341 102224341 G A exonic TARSL2 synonymous SNV TARSL2:NM_152334:exon12:c.C1587T:p.S529S 0.4 0.25 0.44 0.7 0.28 0.38 0.3345 0.2459 0.5553 0.6929 0.2987 0.2583 0.3186 0.3720 0.25 0.25 0.26 0.34 0.28 rs12901450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3447 0.2448 0.5326 0.3468 0.6905 0.2943 0.2519 0.3275 0.3712 0.2832 0.2403 0.4702 0.3377 0.6640 0.2854 0.2540 0.3010 het 860.16 71 15 102224341 . G A 860.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.144;DP=71;Dels=0.00;FS=3.317;HRun=0;HaplotypeScore=3.8507;MQ=59.35;MQ0=0;MQRankSum=-0.306;QD=12.11;ReadPosRankSum=0.386;VQSLOD=5.8977;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,33:71:99:890,0,1085 15 102264476 102264476 C A exonic TARSL2 nonsynonymous SNV TARSL2:NM_152334:exon1:c.G115T:p.A39S 0.19 0.29 0.29 0.0099 0.22 0.15 0.3097 0.3813 0.3705 0.0069 0.3512 0.3526 0.3216 0.2145 0.21 0.22 0.2 0.076 0.12 rs1143136 COSM3754238 5(large_intestine) . . . . . . . . . . . 0.028 0.461 D 0.187 0.276 B 0.033 0.210 B 0.447 0.048 N 1 0.090 P 1.4 0.355 L . . . -0.21 0.103 N 0.044 0.024 -1.033 0.196 T 0.000 0.000 T . . . 1.812 0.279 15.06 0.981 0.381 0.034 0.084 N c -0.703 -0.744 1.000 0.747 0.442 0.072 0 2.33 0.279 2.208 0.422 0.713 0.302 0.592 0.274 0.176 0.212 7.760 0.279 . ENSG00000259658.3|ENSG00000185418.11|ENSG00000259658.3|ENSG00000259658.3|ENSG00000259658.3|ENSG00000259658.3|ENSG00000259658.3|ENSG00000259658.3|ENSG00000259658.3|ENSG00000259658.3|ENSG00000259658.3|ENSG00000185418.11|ENSG00000259658.3|ENSG00000184277.8|ENSG00000259658.3|ENSG00000259236.1|ENSG00000259658.3|ENSG00000185418.11|ENSG00000259660.2 Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid 0.1988 0.2483 0.2162 0.1583 0.0032 0.1847 0.2343 0.2271 0.1755 0.2183 0.2591 0.2264 0.19 0.0062 0.1952 0.2233 0.2137 het 209.31 23 15 102264476 . C A 209.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.031;DP=23;Dels=0.00;FS=1.808;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=1.333;QD=9.10;ReadPosRankSum=0.651;VQSLOD=5.3654;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,10:23:99:239,0,355 16 103517 103517 A C exonic POLR3K nonsynonymous SNV POLR3K:NM_016310:exon1:c.T70G:p.S24A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.94 0.98 rs183360 COSM4128617 1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2251.79 75 16 103517 . A C 2251.79 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.11;MQ0=0;QD=30.02;VQSLOD=8.4363;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2285,187,0 16 108585 108585 T C exonic RHBDF1 synonymous SNV RHBDF1:NM_022450:exon18:c.A2322G:p.S774S 0.79 0.97 0.77 0.62 0.82 0.69 0.8105 0.9500 0.8006 0.6228 0.7881 0.8365 0.8164 0.7317 0.87 0.95 0.83 0.77 0.8 rs216598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8036 0.9534 0.7940 0.8753 0.6194 0.7924 0.8294 0.8106 0.7329 0.8462 0.9487 0.8246 0.8867 0.6300 0.7808 0.8285 0.8020 het 1498.40 151 16 108585 . T C 1498.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.702;DP=151;Dels=0.00;FS=1.400;HRun=3;HaplotypeScore=4.5704;MQ=59.32;MQ0=0;MQRankSum=0.240;QD=9.92;ReadPosRankSum=-0.868;VQSLOD=5.3632;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:89,62:151:99:1528,0,2507 16 138772 138772 - G exonic;splicing NPRL3;NPRL3 NM_001077350:exon13:c.1467+1->C;NM_001243247:exon14:c.1233+1->C;NM_001039476:exon10:c.930+1->C;NM_001243248:exon12:c.1392+1->C;NM_001243249:exon11:c.1392+1->C unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 0.9999 1. 1. 1. 0.043 . rs57321480 COSM5713259;COSM967168;COSM967167 6(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 0.9999 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 1259.94 30 16 138772 . A AG 1259.94 Mask AC=2;AF=1.00;AN=2;DP=30;FS=0.000;HRun=1;HaplotypeScore=77.9109;MQ=58.82;MQ0=0;QD=42.00;set=variant2 GT:AD:DP:GQ:PL 1/1:1,29:30:87.29:1302,87,0 16 239296 239296 G A exonic LUC7L synonymous SNV LUC7L:NM_201412:exon10:c.C1017T:p.S339S . . . . . . 3.368e-05 9.962e-05 8.711e-05 0 0 0 0 0.0001 . . . . . rs762557885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.904e-05 6.583e-05 0 0 0 0 8.982e-06 0 0.0003 3.233e-05 0 0 0 0 0 6.671e-05 0 het 891.16 67 16 239296 . G A 891.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.391;DP=67;Dels=0.00;FS=2.544;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;MQRankSum=-0.378;QD=13.30;ReadPosRankSum=-0.974;VQSLOD=4.7846;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,38:67:99:921,0,718 16 304514 304514 C T exonic FAM234A synonymous SNV FAM234A:NM_001284497:exon3:c.C102T:p.N34N,FAM234A:NM_032039:exon3:c.C102T:p.N34N 0.2 0.14 0.24 0.32 0.14 0.17 0.1837 0.1368 0.3242 0.3261 0.1027 0.1609 0.19 0.1633 0.15 0.14 0.16 0.18 0.2 rs3213508 COSM3765893;COSM3765894;COSM3765892 3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1863 0.1368 0.2994 0.2432 0.3181 0.1083 0.1557 0.1847 0.1631 0.1582 0.1352 0.2876 0.2583 0.3298 0.0977 0.1588 0.1469 het 1923.79 163 16 304514 . C T 1923.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.486;DP=163;Dels=0.00;FS=6.934;HRun=0;HaplotypeScore=4.9343;MQ=59.86;MQ0=0;MQRankSum=1.425;QD=11.80;ReadPosRankSum=-1.097;VQSLOD=4.3430;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,70:163:99:1954,0,2513 16 319511 319511 A G exonic RGS11 nonsynonymous SNV RGS11:NM_001286486:exon14:c.T728C:p.M243T,RGS11:NM_001286485:exon15:c.T1247C:p.M416T,RGS11:NM_003834:exon16:c.T1217C:p.M406T,RGS11:NM_183337:exon16:c.T1280C:p.M427T 0.31 0.64 0.25 0.32 0.079 0.13 0.1762 0.5761 0.3289 0.3342 0.0506 0.0925 0.1440 0.1196 0.25 0.55 0.089 0.35 0.13 rs739999 COSM1376976 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.007 0.316 N 0.000 0.588 P -2.18 0.001 N 1.86 0.245 T 2.62 0.002 N 0.057 0.040 -0.931 0.440 T 0.000 0.000 T . . . 0.249 0.118 5.185 0.546 0.051 0.040 0.093 N c -1.372 -1.170 0.987 0.311 0.646 0.450 0 3.46 0.386 4.406 0.593 -0.979 0.023 1.000 0.715 0.002 0.062 9.475 0.378 RGS domain ENSG00000242173.4|ENSG00000185615.11 Colon_Transverse|Small_Intestine_Terminal_Ileum 0.1707 0.5819 0.3042 0.2115 0.3220 0.0531 0.0859 0.1489 0.1194 0.2380 0.5682 0.2697 0.1987 0.3331 0.0547 0.0852 0.1163 het 546.85 64 16 319511 . A G 546.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.494;DP=64;Dels=0.00;FS=1.023;HRun=0;HaplotypeScore=2.9882;MQ=58.46;MQ0=0;MQRankSum=0.541;QD=8.54;ReadPosRankSum=-0.260;VQSLOD=5.8774;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,26:64:99:577,0,984 16 320583 320583 C T exonic RGS11 nonsynonymous SNV RGS11:NM_001286486:exon13:c.G593A:p.R198H,RGS11:NM_001286485:exon14:c.G1112A:p.R371H,RGS11:NM_003834:exon15:c.G1082A:p.R361H,RGS11:NM_183337:exon15:c.G1145A:p.R382H 0.0016 . . . 0.008 . 0.0021 0.0004 0.0003 0 0.0202 0.0024 0.0051 0 0.0015 0.0005 0.002 . . rs72765828 . . . . . . . . . . . . . 0.002 0.721 D 0.445 0.561 B 0.087 0.509 B 0.235 0.158 N 1 0.090 N 1.275 0.323 L 4.54 0.020 T -2.88 0.605 D 0.055 0.037 -0.938 0.430 T 0.005 0.016 T . . . 1.941 0.294 15.84 0.997 0.788 0.015 0.049 N c -0.833 -0.968 0.257 0.187 0.615 0.372 0 -2.8 0.054 -0.568 0.060 -1.075 0.019 0.001 0.137 0.025 0.141 5.277 0.149 RGS domain . . 0.0024 0.0003 0.0004 0 0 0.0157 0.0020 0.0018 0 0.0034 0.0003 0.0024 0 0 0.0129 0.0034 0.0051 het 52.05 10 16 320583 . C T 52.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.633;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.568;QD=5.21;ReadPosRankSum=-0.633;VQSLOD=8.8690;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:82.04:82,0,169 16 320629 320629 C T exonic RGS11 nonsynonymous SNV RGS11:NM_001286486:exon13:c.G547A:p.V183I,RGS11:NM_001286485:exon14:c.G1066A:p.V356I,RGS11:NM_003834:exon15:c.G1036A:p.V346I,RGS11:NM_183337:exon15:c.G1099A:p.V367I 0.0016 . . . 0.008 . 0.0022 0.0004 0.0002 0 0.0207 0.0024 0.0062 0 0.0015 0.0005 0.0021 . . rs77654034 . . . . . . . . . . . . . 1.0 0.010 T 0.142 0.314 B 0.078 0.373 B 0.000 0.629 N 0.627 0.307 N 0.535 0.137 N 4.65 0.018 T 0.37 0.036 N 0.167 0.202 -0.882 0.496 T 0.003 0.010 T . . . 1.139 0.204 11.42 0.869 0.163 0.907 0.519 D c -0.474 -0.336 0.874 0.255 0.615 0.372 0 3.15 0.351 3.631 0.538 0.024 0.147 1.000 0.715 0.996 0.625 9.967 0.407 RGS domain . . 0.0024 0.0003 0.0004 0 0 0.0158 0.0020 0.0017 0 0.0034 0.0002 0.0024 0 0 0.0129 0.0033 0.0051 het 211.21 16 16 320629 . C T 211.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.208;DP=16;Dels=0.00;FS=2.081;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.998;QD=13.20;ReadPosRankSum=0.788;VQSLOD=5.6054;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:241,0,188 16 334580 334580 G C exonic PDIA2 synonymous SNV PDIA2:NM_006849:exon2:c.G393C:p.P131P 0.25 0.32 0.21 0.12 0.29 0.26 0.2602 0.3091 0.1406 0.1497 0.2767 0.2845 0.3049 0.2620 0.29 0.29 0.29 0.28 0.26 rs432925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2459 0.3039 0.1392 0.3012 0.1461 0.2557 0.2785 0.2698 0.2453 0.2743 0.3089 0.1663 0.2914 0.1735 0.2563 0.2771 0.2413 hom 633.52 21 16 334580 . G C 633.52 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=30.17;VQSLOD=8.3109;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.16:667,57,0 16 334732 334732 C T exonic PDIA2 synonymous SNV PDIA2:NM_006849:exon3:c.C480T:p.D160D 0.13 0.086 0.099 0.096 0.16 0.2 0.1639 0.0994 0.0954 0.1304 0.1596 0.1716 0.1974 0.2340 0.13 0.08 0.16 0.098 0.057 rs45593734 COSM3754871 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1430 0.0879 0.0799 0.1663 0.1232 0.1273 0.1608 0.1626 0.1919 0.1349 0.0883 0.0919 0.1567 0.1566 0.1350 0.1622 0.1278 het 185.59 13 16 334732 . C T 185.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=1.256;QD=14.28;ReadPosRankSum=-1.092;VQSLOD=5.5138;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,8:13:99:216,0,124 16 334890 334890 G A exonic PDIA2 nonsynonymous SNV PDIA2:NM_006849:exon4:c.G553A:p.E185K 0.1 0.16 0.1 0.001 0.18 0.038 0.1487 0.1569 0.0672 0.0004 0.1990 0.2020 0.1487 0.0465 0.18 0.15 0.2 0.098 0.2 rs419949 COSM3754872 1(breast);1(pancreas);2(liver);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.155 0.241 T 0.024 0.178 B 0.052 0.241 B 0.045 0.235 N 0.582 0.311 P 1.445 0.365 L 1.92 0.231 T -2.36 0.521 N 0.126 0.143 -1.055 0.131 T 0.000 0.000 T . . . 0.741 0.165 9.093 0.953 0.261 0.117 0.166 N c -1.002 -1.090 0.026 0.137 0.646 0.450 0 0.305 0.150 0.194 0.168 -0.986 0.023 0.000 0.063 0.000 0.016 5.083 0.139 Thioredoxin-like fold ENSG00000242173.4|ENSG00000185615.11|ENSG00000185615.11|ENSG00000103126.10|ENSG00000129925.6 Heart_Left_Ventricle|Heart_Left_Ventricle|Pancreas|Testis|Whole_Blood 0.1434 0.1592 0.0713 0.1482 0.0008 0.1934 0.2017 0.1521 0.0452 0.1687 0.1654 0.0907 0.1391 0.0006 0.1815 0.1900 0.1800 het 1275.79 80 16 334890 . G A 1275.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.572;DP=80;Dels=0.00;FS=9.486;HRun=1;HaplotypeScore=2.9978;MQ=59.77;MQ0=0;MQRankSum=0.704;QD=15.95;ReadPosRankSum=0.684;VQSLOD=4.1608;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,43:80:99:1306,0,846 16 336396 336396 G A exonic PDIA2 nonsynonymous SNV PDIA2:NM_006849:exon8:c.G1163A:p.R388Q 0.17 0.35 0.15 0.038 0.19 0.058 0.1732 0.3148 0.0980 0.0491 0.1949 0.2065 0.1783 0.0661 0.23 0.3 0.2 0.17 0.2 rs400037 COSM3754873 1(large_intestine) . . . . . . . . . . . 0.985 0.046 T 0.005 0.119 B 0.005 0.104 B 0.760 0.065 N 1 0.090 P -0.155 0.043 N 2.31 0.168 T -0.26 0.112 N 0.055 0.040 -0.919 0.457 T 0.000 0.000 T . . . 0.518 0.144 7.569 0.647 0.074 0.065 0.124 N c -1.200 -1.085 0.001 0.079 0.581 0.326 0 -2.31 0.063 -0.168 0.098 0.041 0.156 0.000 0.063 0.129 0.199 9.788 0.397 Thioredoxin-like fold ENSG00000242173.4|ENSG00000185615.11|ENSG00000185615.11|ENSG00000103126.10 Heart_Left_Ventricle|Heart_Left_Ventricle|Pancreas|Testis 0.1669 0.3206 0.1047 0.1527 0.0444 0.1947 0.2070 0.1713 0.0665 0.2199 0.3282 0.1286 0.1351 0.0380 0.1803 0.1945 0.1938 het 719.09 69 16 336396 . G A 719.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.626;DP=69;Dels=0.00;FS=8.959;HRun=0;HaplotypeScore=0.9789;MQ=59.12;MQ0=0;MQRankSum=0.154;QD=10.42;ReadPosRankSum=-2.217;VQSLOD=4.1152;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,30:69:99:749,0,952 16 336916 336916 C T exonic PDIA2 nonsynonymous SNV PDIA2:NM_006849:exon10:c.C1504T:p.P502S 0.12 0.055 0.091 0.099 0.16 0.23 0.1556 0.0774 0.0827 0.1363 0.1467 0.1652 0.1809 0.2123 0.13 0.069 0.16 0.098 0.049 rs1048786 COSM435210 1(large_intestine) . . . . . . . . . . . 0.12 0.279 T 0.002 0.090 B 0.003 0.080 B 0.031 0.252 N 0.973 0.256 P 0.55 0.145 N 4.18 0.035 T -0.13 0.090 N 0.135 0.156 -0.914 0.464 T 0.000 0.000 T . . . 0.459 0.138 7.109 0.855 0.154 0.778 0.380 D c -0.836 -0.800 0.013 0.124 0.581 0.326 0 2.29 0.275 0.462 0.215 0.861 0.376 0.219 0.243 0.017 0.128 7.984 0.292 . ENSG00000086504.11|ENSG00000185615.11 Cells_Transformed_fibroblasts|Nerve_Tibial 0.1442 0.0698 0.0815 0.1487 0.1313 0.1343 0.1596 0.1504 0.2005 0.1311 0.0710 0.0871 0.1291 0.1615 0.1391 0.1636 0.1278 het 137.53 15 16 336916 . C T 137.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.945;DP=15;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=0.0000;MQ=57.47;MQ0=0;MQRankSum=1.591;QD=9.17;ReadPosRankSum=-0.295;VQSLOD=3.7821;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,6:15:99:168,0,264 16 347184 347184 A G exonic AXIN1 synonymous SNV AXIN1:NM_003502:exon7:c.T1827C:p.A609A,AXIN1:NM_181050:exon7:c.T1827C:p.A609A 0.21 0.43 0.17 0.055 0.22 0.086 0.1995 0.3918 0.0948 0.0569 0.2088 0.2313 0.2102 0.0942 0.28 0.38 0.23 0.17 0.24 rs214252 COSM3754879 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1890 0.3978 0.0977 0.2034 0.0569 0.2095 0.2289 0.1980 0.0946 0.2501 0.3914 0.1208 0.1954 0.0514 0.1967 0.2128 0.2121 het 3000.88 250 16 347184 . A G 3000.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.195;DP=250;DS;Dels=0.00;FS=3.788;HRun=1;HaplotypeScore=7.8330;MQ=59.05;MQ0=0;MQRankSum=1.607;QD=12.00;ReadPosRankSum=0.153;VQSLOD=4.6276;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:3031,0,4100 16 396264 396264 A G exonic AXIN1 synonymous SNV AXIN1:NM_003502:exon2:c.T762C:p.D254D,AXIN1:NM_181050:exon2:c.T762C:p.D254D 0.64 0.9 0.54 0.29 0.62 0.74 0.6218 0.8683 0.4244 0.3034 0.6060 0.6318 0.6101 0.7385 0.71 0.85 0.65 0.67 0.6 rs1805105 COSM3754893 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000456059.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6080 0.8751 0.4393 0.5120 0.2990 0.6081 0.6430 0.5937 0.7387 0.6766 0.8682 0.4940 0.5497 0.3050 0.6045 0.6388 0.6109 hom 3755.94 128 16 396264 . A G 3755.94 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.677;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1796;MQ=59.28;MQ0=0;MQRankSum=0.605;QD=29.34;ReadPosRankSum=-1.457;VQSLOD=7.3386;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,127:128:99:3755,310,0 16 417757 417757 T C exonic MRPL28 nonsynonymous SNV MRPL28:NM_006428:exon6:c.A689G:p.Y230C 0.03 0.0038 0.053 0.001 0.071 0.036 0.0569 0.0140 0.0298 0.0002 0.0772 0.0786 0.0798 0.0364 0.063 0.017 0.086 0.022 0.049 rs13226 . . . . . . . . . . . . . 0.128 0.286 T 0.031 0.188 B 0.031 0.206 B 0.002 0.383 N 0.991 0.810 D 1.735 0.450 L 1.52 0.309 T -4.94 0.850 D 0.153 0.495 -1.104 0.037 T 0.003 0.009 T . . . 0.805 0.171 9.496 0.605 0.063 0.441 0.270 N c -0.686 -0.656 0.937 0.273 0.672 0.522 0 3.57 0.399 -0.095 0.110 0.137 0.221 0.004 0.165 0.137 0.201 9.916 0.404 . ENSG00000086504.11|ENSG00000086504.11|ENSG00000086504.11|ENSG00000086504.11|ENSG00000086504.11 Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.0569 0.0136 0.0318 0.0583 0.0004 0.0728 0.0813 0.0623 0.0363 0.0533 0.0148 0.0430 0.0497 0.0006 0.0762 0.0761 0.0643 het 940.80 70 16 417757 . T C 940.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.521;DP=70;Dels=0.00;FS=8.737;HRun=0;HaplotypeScore=1.7900;MQ=60.00;MQ0=0;MQRankSum=-0.963;QD=13.44;ReadPosRankSum=-0.857;VQSLOD=3.5511;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,35:70:99:971,0,910 16 419092 419092 A G exonic MRPL28 synonymous SNV MRPL28:NM_006428:exon3:c.T417C:p.Y139Y 0.68 0.89 0.64 0.53 0.55 0.73 0.6166 0.8646 0.6188 0.5630 0.5798 0.5623 0.5850 0.7226 0.67 0.84 0.58 0.69 0.54 rs3830160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6130 0.8704 0.6099 0.4940 0.5619 0.5864 0.5733 0.5801 0.7243 0.6603 0.8641 0.6086 0.5397 0.5769 0.5943 0.5776 0.5666 hom 3164.30 106 16 419092 . A G 3164.30 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8663;MQ=58.34;MQ0=0;QD=29.85;VQSLOD=8.3403;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3197,277,0 16 419154 419154 G A exonic MRPL28 synonymous SNV MRPL28:NM_006428:exon3:c.C355T:p.L119L 0.12 0.019 0.086 0.15 0.17 0.18 0.1378 0.0351 0.0622 0.1458 0.1284 0.1603 0.1443 0.1635 0.13 0.041 0.17 0.12 0.15 rs1802752 COSM1377786 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1385 0.0326 0.0683 0.1460 0.1491 0.1288 0.1665 0.1453 0.1634 0.1210 0.0342 0.0811 0.1225 0.1471 0.1281 0.1687 0.1299 het 2103.50 145 16 419154 . G A 2103.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.931;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.9002;MQ=59.39;MQ0=0;MQRankSum=0.831;QD=14.51;ReadPosRankSum=0.398;VQSLOD=5.1240;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,77:145:99:2133,0,1885 16 420140 420140 G A exonic MRPL28 nonsynonymous SNV MRPL28:NM_006428:exon2:c.C79T:p.H27Y 0.11 0.015 0.085 0.15 0.16 0.17 0.1627 0.0417 0.0781 0.1724 0.1779 0.1859 0.1801 0.1788 0.13 0.039 0.17 0.11 0.12 rs3194151 . . . . . . . . . . . . . 0.105 0.298 T 1.0 0.899 D 0.966 0.739 D 0.000 0.843 D 0.001 0.457 P 2.965 0.855 M 1.82 0.334 T -2.47 0.569 N 0.432 0.488 -1.050 0.144 T 0.001 0.003 T . . . 4.231 0.567 23.9 0.996 0.731 0.817 0.407 D c 0.587 0.444 1.000 0.747 0.767 0.994 0 4.71 0.589 2.439 0.443 0.877 0.384 0.975 0.345 0.310 0.239 13.098 0.584 . ENSG00000086504.11|ENSG00000129925.6|ENSG00000086504.11|ENSG00000129925.6 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Whole_Blood 0.1398 0.0322 0.0691 0.1463 0.1488 0.1331 0.1686 0.1483 0.1612 0.1203 0.0318 0.0801 0.1225 0.1460 0.1280 0.1687 0.1296 het 293.78 18 16 420140 . G A 293.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.906;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=0.453;QD=16.32;ReadPosRankSum=1.087;VQSLOD=6.0653;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,11:18:99:324,0,213 16 420179 420179 G A exonic MRPL28 synonymous SNV MRPL28:NM_006428:exon2:c.C40T:p.L14L 0.074 0.0068 0.048 0.13 0.12 0.08 0.1312 0.0303 0.0591 0.1526 0.1932 0.1588 0.1446 0.0977 0.095 0.027 0.13 0.087 0.074 rs11557300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1027 0.0210 0.0486 0.1293 0.1219 0.1243 0.1278 0.1066 0.0815 0.0947 0.0202 0.0574 0.1060 0.1216 0.1186 0.1306 0.1033 het 288.72 18 16 420179 . G A 288.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.302;DP=18;Dels=0.00;FS=5.842;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=1.302;QD=16.04;ReadPosRankSum=-0.057;VQSLOD=4.6263;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,13:18:99:319,0,103 16 426432 426432 T C exonic TMEM8A nonsynonymous SNV TMEM8A:NM_021259:exon6:c.A928G:p.I310V 0.53 0.62 0.47 0.3 0.54 0.69 0.5436 0.6335 0.4100 0.3121 0.5596 0.5522 0.5448 0.7060 0.59 0.62 0.57 0.38 0.46 rs2071915 . . . . . . . . . . . . . 0.313 0.139 T 0.0 0.026 B 0.0 0.013 B 0.000 0.006 N 1 0.090 P -1.1 0.010 N 2.01 0.286 T -0.1 0.085 N 0.022 0.005 -1.009 0.273 T 0.000 0.000 T . . . -4.128 0.000 0.001 0.073 0.000 0.036 0.087 N c -2.836 -2.871 1.000 0.747 0.707 0.730 0 -9.13 0.006 -2.258 0.013 -4.564 0.000 0.000 0.063 0.000 0.016 4.298 0.103 . ENSG00000129925.6|ENSG00000129925.6|ENSG00000086504.11|ENSG00000129925.6|ENSG00000086504.11|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000086504.11|ENSG00000086504.11|ENSG00000129925.6|ENSG00000086504.11|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000086504.11|ENSG00000086504.11|ENSG00000129925.6|ENSG00000129925.6|ENSG00000086504.11 Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood 0.5365 0.6312 0.4145 0.4424 0.3138 0.5586 0.5608 0.5303 0.6973 0.5683 0.6405 0.4342 0.5 0.3100 0.5601 0.5676 0.5286 hom 1102.03 37 16 426432 . T C 1102.03 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=29.78;VQSLOD=8.7540;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1135,102,0 16 427479 427479 T C exonic TMEM8A nonsynonymous SNV TMEM8A:NM_021259:exon3:c.A406G:p.T136A 0.53 0.62 0.48 0.3 0.54 0.7 0.5751 0.6502 0.4579 0.3392 0.5959 0.5730 0.5924 0.7177 0.59 0.62 0.57 0.54 0.34 rs11248931 COSM1377806 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.072 0.023 N 1 0.090 P 0.345 0.112 N 1.92 0.231 T 0.16 0.052 N 0.018 0.003 -0.956 0.400 T 0.000 0.000 T . . . -2.517 0.003 0.001 0.213 0.008 0.050 0.106 N c -1.771 -1.718 0.085 0.160 0.707 0.730 0 0.981 0.188 -1.231 0.030 -2.256 0.004 0.000 0.063 0.000 0.016 4.588 0.116 . ENSG00000129925.6|ENSG00000129925.6|ENSG00000086504.11|ENSG00000129925.6|ENSG00000086504.11|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000086504.11|ENSG00000086504.11|ENSG00000129925.6|ENSG00000086504.11|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000129925.6|ENSG00000086504.11|ENSG00000086504.11|ENSG00000129925.6|ENSG00000129925.6|ENSG00000086504.11 Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood 0.5399 0.6330 0.4148 0.4399 0.3077 0.5560 0.5621 0.5266 0.7085 0.5690 0.6411 0.4318 0.5 0.3027 0.5602 0.5695 0.5318 hom 651.14 23 16 427479 . T C 651.14 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.31;VQSLOD=12.6094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.16:684,57,0 16 427516 427516 T C exonic TMEM8A synonymous SNV TMEM8A:NM_021259:exon3:c.A369G:p.V123V 0.57 0.74 0.49 0.3 0.54 0.71 0.6042 0.7467 0.5067 0.3772 0.6093 0.5878 0.6137 0.7287 0.62 0.72 0.57 0.58 0.27 rs11649031 COSM435248 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5524 0.7353 0.439 0.4418 0.3186 0.5576 0.5643 0.5346 0.7202 0.5965 0.7335 0.4568 0.5033 0.3067 0.5602 0.5700 0.5381 hom 581.17 19 16 427516 . T C 581.17 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.59;VQSLOD=12.9104;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:48.15:614,48,0 16 427784 427784 G A exonic TMEM8A synonymous SNV TMEM8A:NM_021259:exon2:c.C186T:p.Y62Y 0.53 0.62 0.47 0.3 0.54 0.69 0.6088 0.6552 0.5297 0.3874 0.6257 0.5990 0.6010 0.7070 0.59 0.62 0.57 0.51 0.3 rs11641742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5376 0.6299 0.4166 0.4368 0.3043 0.5585 0.5630 0.5215 0.6961 0.5679 0.6402 0.4332 0.5 0.3028 0.5597 0.5681 0.5277 hom 485.26 17 16 427784 . G A 485.26 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.35;MQ0=0;QD=28.54;VQSLOD=8.2332;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.10:518,42,0 16 427820 427820 C T exonic TMEM8A synonymous SNV TMEM8A:NM_021259:exon2:c.G150A:p.S50S 0.52 0.56 0.47 0.3 0.54 0.69 0.6001 0.5991 0.5201 0.3707 0.6216 0.5846 0.5782 0.7049 0.57 0.58 0.57 0.49 0.28 rs12922073 COSM3754894 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5329 0.5757 0.4138 0.4369 0.3046 0.5579 0.5611 0.5150 0.6955 0.5531 0.5889 0.4308 0.5 0.3022 0.5600 0.5674 0.5297 hom 584.47 22 16 427820 . C T 584.47 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;QD=26.57;VQSLOD=7.6218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:51.12:617,51,0 16 570557 570557 T C exonic RAB11FIP3 synonymous SNV RAB11FIP3:NM_001142272:exon11:c.T1227C:p.S409S,RAB11FIP3:NM_014700:exon13:c.T2115C:p.S705S 0.79 0.84 0.69 0.99 0.54 0.85 0.6590 0.7880 0.7916 0.9945 0.5948 0.5356 0.6228 0.8339 0.61 0.76 0.54 0.7 0.48 rs11537754 COSM4129136;COSM4129137 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6634 0.7931 0.7839 0.6096 0.9943 0.5974 0.5318 0.6046 0.8337 0.6483 0.7844 0.7452 0.6 0.9951 0.6136 0.5380 0.6041 het 3112.14 248 16 570557 . T C 3112.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.379;DP=248;DS;Dels=0.00;FS=3.562;HRun=1;HaplotypeScore=2.9780;MQ=59.53;MQ0=0;MQRankSum=-0.706;QD=12.55;ReadPosRankSum=-0.583;VQSLOD=5.6822;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:132,116:248:99:3142,0,3750 16 601632 601632 T C exonic CAPN15 synonymous SNV CAPN15:NM_005632:exon9:c.T2313C:p.G771G 0.72 0.83 0.68 0.78 0.52 0.74 0.6296 0.7952 0.7862 0.7857 0.6665 0.5249 0.6080 0.7395 0.61 0.78 0.52 0.62 0.53 rs3213574 COSM3754961 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6304 0.8015 0.7720 0.5052 0.7815 0.6631 0.5200 0.5809 0.7355 0.6415 0.7919 0.7279 0.52 0.8094 0.6645 0.5294 0.6148 hom 2413.99 83 16 601632 . T C 2413.99 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.252;DP=83;Dels=0.00;FS=3.307;HRun=0;HaplotypeScore=1.9427;MQ=59.50;MQ0=0;MQRankSum=0.490;QD=29.08;ReadPosRankSum=-0.668;VQSLOD=4.2310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,81:83:99:2447,178,0 16 615048 615048 G A exonic PRR35 nonsynonymous SNV PRR35:NM_145270:exon3:c.G1457A:p.R486Q 0.01 0.0008 0.0029 . 0.045 0.0031 0.0423 0.0076 0.0081 0 0.1247 0.0597 0.0383 0.0102 0.027 0.0061 0.036 0.011 . rs113068385 COSM1563588 2(large_intestine) . . . . . . . . . . . 0.369 0.116 T 0.0 0.026 B 0.001 0.040 B 0.018 0.015 N 1 0.090 N -1.24 0.008 N . . . 0.55 0.027 N 0.007 0.000 -1.044 0.163 T 0.005 0.017 T . . . -0.986 0.032 0.017 0.883 0.173 0.018 0.056 N c -2.007 -2.044 1.000 0.517 0.517 0.208 0 -7.67 0.011 -1.619 0.021 -1.731 0.007 0.000 0.063 0.001 0.043 1.635 0.025 . . . 0.0337 0.0061 0.0076 0.0319 6.447e-05 0.0909 0.0489 0.0275 0.0074 0.0410 0.0076 0.0048 0.0497 0 0.0805 0.0564 0.0588 het 163.10 15 16 615048 . G A 163.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.176;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;MQRankSum=-0.428;QD=10.87;ReadPosRankSum=1.220;VQSLOD=5.0962;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:193,0,163 16 624114 624114 A G exonic PIGQ nonsynonymous SNV PIGQ:NM_004204:exon2:c.A40G:p.T14A,PIGQ:NM_148920:exon2:c.A40G:p.T14A 0.53 0.49 0.49 0.64 0.43 0.62 0.4908 0.4869 0.5755 0.6220 0.5180 0.4238 0.4081 0.6274 0.43 0.48 0.41 0.43 0.4 rs2071979 COSM3754962;COSM3754963 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.000 0.491 N 1 0.090 P -2.615 0.000 N 1.49 0.327 T 1.34 0.029 N 0.159 0.191 -0.968 0.377 T 0.000 0.000 T . . . -1.100 0.028 0.010 0.642 0.072 0.033 0.082 N c -0.945 -0.720 1.000 0.411 0.732 0.924 0 5.17 0.707 5.633 0.673 0.000 0.135 0.988 0.363 0.115 0.194 13.025 0.580 . ENSG00000260394.2|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000007541.10|ENSG00000127578.6|ENSG00000007541.10|ENSG00000127578.6|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000130731.11|ENSG00000130731.11|ENSG00000127578.6|ENSG00000103245.9|ENSG00000161996.13|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000127578.6|ENSG00000103269.9|ENSG00000127578.6|ENSG00000127578.6|ENSG00000007541.10|ENSG00000140983.9|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000127580.11|ENSG00000130731.11|ENSG00000127578.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4874 0.4851 0.5603 0.3695 0.6168 0.5039 0.4168 0.4275 0.6239 0.4756 0.4903 0.5179 0.4073 0.6252 0.5146 0.4389 0.5041 het 256.20 37 16 624114 . A G 256.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.272;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=-0.587;QD=6.92;ReadPosRankSum=-1.527;VQSLOD=5.3225;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,13:37:99:286,0,676 16 624713 624713 C T exonic PIGQ synonymous SNV PIGQ:NM_004204:exon2:c.C639T:p.C213C,PIGQ:NM_148920:exon2:c.C639T:p.C213C 0.54 0.51 0.49 0.63 0.43 0.62 0.5018 0.5199 0.5814 0.6242 0.5279 0.4311 0.4257 0.6409 0.43 0.48 0.4 0.5 0.35 rs4984669 COSM3754964;COSM435480 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4884 0.5008 0.5600 0.3735 0.6154 0.5047 0.4153 0.4232 0.6233 0.4798 0.5063 0.5191 0.4073 0.6238 0.5143 0.4384 0.5051 het 371.48 38 16 624713 . C T 371.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.410;DP=38;Dels=0.00;FS=1.289;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=0.783;QD=9.78;ReadPosRankSum=0.636;VQSLOD=6.1195;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,16:38:99:401,0,517 16 630902 630902 C G exonic PIGQ synonymous SNV PIGQ:NM_004204:exon9:c.C1461G:p.L487L,PIGQ:NM_148920:exon9:c.C1461G:p.L487L 0.14 0.14 0.081 0.025 0.18 0.26 0.1678 0.1532 0.0582 0.0247 0.1918 0.1822 0.1231 0.2637 0.18 0.16 0.18 0.18 0.2 rs1045274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1614 0.1520 0.0609 0.1526 0.0244 0.1839 0.1845 0.1408 0.2603 0.1689 0.1632 0.0764 0.1821 0.0216 0.1841 0.1873 0.2035 het 2551.11 249 16 630902 . C G 2551.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.240;DP=249;DS;Dels=0.00;FS=1.632;HRun=1;HaplotypeScore=9.3856;MQ=59.53;MQ0=0;MQRankSum=1.691;QD=10.25;ReadPosRankSum=1.145;VQSLOD=3.8706;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:153,96:249:99:2581,0,3820 16 633125 633125 T C exonic PIGQ nonsynonymous SNV PIGQ:NM_148920:exon10:c.T1774C:p.C592R 0.53 0.48 0.49 0.64 0.43 0.63 0.4907 0.4783 0.5791 0.6248 0.5101 0.4253 0.4051 0.6265 0.43 0.47 0.41 0.43 0.4 rs1045277 COSM435483 2(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.69 0.019 N 1.94 0.227 T 0.23 0.046 N 0.049 0.030 -0.983 0.342 T 0.000 0.000 T . . . -1.184 0.026 0.007 0.587 0.059 0.006 0.026 N c -1.358 -1.388 0.976 0.296 0.713 0.817 0 1.68 0.231 -1.171 0.032 -1.632 0.008 0.000 0.063 0.000 0.016 4.255 0.101 . ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000007541.10|ENSG00000127578.6|ENSG00000007541.10|ENSG00000127578.6|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000007541.10|ENSG00000130731.11|ENSG00000127578.6|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000103245.9|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000127578.6|ENSG00000103269.9|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000007541.10|ENSG00000140983.9|ENSG00000130731.11|ENSG00000127578.6|ENSG00000127580.11|ENSG00000130731.11|ENSG00000127578.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4888 0.4771 0.5619 0.3745 0.6191 0.5068 0.4197 0.4309 0.6254 0.4739 0.4788 0.5179 0.4073 0.6258 0.5143 0.4420 0.5051 het 2265.71 174 16 633125 . T C 2265.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.452;DP=174;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6624;MQ=59.44;MQ0=0;MQRankSum=0.993;QD=13.02;ReadPosRankSum=-0.084;VQSLOD=6.7462;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,83:174:99:2296,0,2632 16 633353 633353 T C exonic PIGQ nonsynonymous SNV PIGQ:NM_148920:exon10:c.T2002C:p.C668R 0.53 0.47 0.49 0.64 0.43 0.63 0.4911 0.4770 0.5778 0.6250 0.5109 0.4258 0.4060 0.6260 0.41 0.45 0.39 . 0.37 rs710924 COSM1128914 1(kidney);1(urinary_tract);1(liver);1(skin);2(prostate);3(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 1.94 0.227 T 0.0 0.070 N 0.043 0.023 -0.954 0.402 T 0.000 0.000 T . . . -0.681 0.046 0.080 0.487 0.040 0.003 0.016 N c -1.394 -1.425 0.798 0.241 0.635 0.413 0 1.29 0.206 -1.529 0.023 -2.239 0.004 0.000 0.063 0.000 0.016 5.103 0.140 . ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000103269.9|ENSG00000262528.1|ENSG00000127578.6|ENSG00000127578.6|ENSG00000007541.10|ENSG00000127578.6|ENSG00000007541.10|ENSG00000127578.6|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000007541.10|ENSG00000130731.11|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000161996.13|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000103269.9|ENSG00000127578.6|ENSG00000127578.6|ENSG00000007541.10|ENSG00000140983.9|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000127580.11|ENSG00000130731.11|ENSG00000127578.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4881 0.4740 0.5614 0.3748 0.6183 0.5060 0.4193 0.4305 0.6246 0.4696 0.4747 0.5168 0.4033 0.62 0.5141 0.4366 0.5 het 1397.47 110 16 633353 . T C 1397.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.947;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6880;MQ=59.39;MQ0=0;MQRankSum=0.120;QD=12.70;ReadPosRankSum=0.054;VQSLOD=4.2126;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1427,0,1627 16 633354 633354 G A exonic PIGQ nonsynonymous SNV PIGQ:NM_148920:exon10:c.G2003A:p.C668Y 0.53 0.47 0.49 0.64 0.43 0.63 0.4909 0.4775 0.5781 0.6249 0.5106 0.4255 0.4040 0.6257 0.41 0.45 0.39 . 0.37 rs710925 COSM3754966 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(urinary_tract);1(liver);1(skin);2(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.013 0.154 B 0.018 0.173 B . . . 1 0.090 P 0 0.065 N 1.93 0.229 T -0.06 0.079 N 0.057 0.040 -0.920 0.455 T 0.000 0.000 T . . . -1.293 0.022 0.005 0.376 0.025 0.011 0.039 N c -1.622 -1.724 0.999 0.382 0.635 0.413 0 -5.47 0.024 -0.803 0.046 -0.509 0.051 0.000 0.063 0.000 0.016 1.904 0.030 . ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000127578.6|ENSG00000007541.10|ENSG00000127578.6|ENSG00000007541.10|ENSG00000127578.6|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000007541.10|ENSG00000130731.11|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000007541.10|ENSG00000130731.11|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000161996.13|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000127578.6|ENSG00000130731.11|ENSG00000127578.6|ENSG00000127578.6|ENSG00000127578.6|ENSG00000103269.9|ENSG00000127578.6|ENSG00000127578.6|ENSG00000007541.10|ENSG00000140983.9|ENSG00000130731.11|ENSG00000103269.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000127580.11|ENSG00000130731.11|ENSG00000127578.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4879 0.4740 0.5614 0.3748 0.6182 0.5057 0.4189 0.4301 0.6244 0.4692 0.4744 0.5168 0.4033 0.6208 0.5141 0.4360 0.4979 het 1309.99 110 16 633354 . G A 1309.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.308;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6880;MQ=59.39;MQ0=0;MQRankSum=-0.012;QD=11.91;ReadPosRankSum=0.192;VQSLOD=4.9299;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1340,0,1692 16 681284 681284 C T exonic WFIKKN1 synonymous SNV WFIKKN1:NM_053284:exon1:c.C31T:p.L11L 0.22 0.4 0.097 0.036 0.19 0.28 0.2212 0.4383 0.0771 0.0297 0.2335 0.2256 0.1570 0.2889 0.24 0.35 0.19 0.27 0.033 rs8062289 COSM435560 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1812 0.3724 0.0745 0.1547 0.0277 0.1938 0.1925 0.1574 0.2731 0.2393 0.3866 0.0897 0.1987 0.0284 0.1913 0.1981 0.2228 het 128.36 10 16 681284 . C T 128.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.148;DP=10;Dels=0.00;FS=2.808;HRun=1;HaplotypeScore=1.8675;MQ=55.21;MQ0=0;MQRankSum=0.336;QD=12.84;ReadPosRankSum=1.268;VQSLOD=2.2923;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:158,0,141 16 718514 718514 C G exonic RHOT2 synonymous SNV RHOT2:NM_138769:exon3:c.C123G:p.T41T 0.55 0.61 0.55 0.32 0.66 0.58 0.6072 0.6542 0.4520 0.3222 0.5972 0.6805 0.6772 0.5542 0.68 0.67 0.69 0.41 0.59 rs7204542 COSM435726 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5981 0.6386 0.4647 0.7005 0.3093 0.5945 0.6824 0.6448 0.5485 0.6330 0.6536 0.5108 0.7119 0.3045 0.5928 0.6722 0.6295 hom 1630.86 57 16 718514 . C G 1630.86 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=58.52;MQ0=0;QD=28.61;VQSLOD=7.7917;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1664,144,0 16 774692 774692 A G exonic CCDC78 nonsynonymous SNV CCDC78:NM_001031737:exon8:c.T754C:p.W252R 0.7 0.7 0.62 0.8 0.5 0.86 0.6039 0.6779 0.7588 0.8464 0.6243 0.4774 0.5356 0.8094 0.54 0.66 0.47 0.6 0.4 rs2071950 COSM4129375 1(thyroid) Benign not_specified RCV000116603.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.392 0.045 N 1 0.090 P -2.095 0.002 N 1.68 0.272 T 3.54 0.001 N 0.028 0.567 -0.986 0.336 T 0.000 0.000 T . . . -1.661 0.013 0.002 0.432 0.032 0.007 0.030 N c -1.513 -1.407 0.995 0.337 0.660 0.495 0 1.78 0.238 -0.155 0.100 -0.944 0.024 0.000 0.063 0.000 0.016 8.840 0.341 . ENSG00000127578.6|ENSG00000103245.9|ENSG00000162004.12|ENSG00000162004.12|ENSG00000103269.9|ENSG00000103253.13|ENSG00000162004.12|ENSG00000103253.13|ENSG00000162004.12|ENSG00000130731.11|ENSG00000130731.11|ENSG00000103269.9|ENSG00000103245.9|ENSG00000103245.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000127578.6|ENSG00000103245.9|ENSG00000127578.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.5996 0.6770 0.7313 0.4027 0.8436 0.6018 0.4733 0.5230 0.8061 0.5944 0.6624 0.6711 0.4106 0.8601 0.6186 0.5193 0.6033 het 203.15 19 16 774692 . A G 203.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.429;DP=19;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=-0.857;QD=10.69;ReadPosRankSum=-1.102;VQSLOD=5.9428;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:233,0,290 16 813650 813650 G A exonic MSLN synonymous SNV MSLN:NM_013404:exon4:c.G138A:p.A46A,MSLN:NM_001177355:exon5:c.G138A:p.A46A,MSLN:NM_005823:exon5:c.G138A:p.A46A 0.14 0.048 0.12 0.3 0.15 0.13 0.1707 0.0732 0.1306 0.2724 0.1618 0.1823 0.1780 0.1587 0.15 0.068 0.19 0.12 0.19 rs3765319 COSM3773761;COSM3773762 1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1618 0.0626 0.1275 0.1165 0.2621 0.1481 0.1821 0.1505 0.1453 0.1599 0.0722 0.1283 0.1192 0.2700 0.1474 0.2027 0.1903 het 429.70 37 16 813650 . G A 429.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.046;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.06;MQ0=0;MQRankSum=-0.198;QD=11.61;ReadPosRankSum=-0.625;VQSLOD=5.7046;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,20:37:99:460,0,429 16 818559 818559 A G exonic MSLN nonsynonymous SNV MSLN:NM_013404:exon16:c.A1801G:p.M601V,MSLN:NM_001177355:exon17:c.A1777G:p.M593V,MSLN:NM_005823:exon17:c.A1777G:p.M593V 0.35 0.61 0.3 0.31 0.2 0.26 0.2771 0.5355 0.3031 0.3038 0.2020 0.2335 0.2645 0.2859 0.32 0.51 0.23 0.35 0.16 rs1135210 COSM435843;COSM435842 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.462 0.049 N 1 0.090 P -1.7 0.004 N 3.04 0.088 T 0.09 0.059 N 0.021 0.274 -0.947 0.416 T 0.000 0.000 T . . . -2.408 0.004 0.001 0.260 0.012 0.009 0.036 N c -2.422 -2.421 1.000 0.480 0.403 0.052 0 -6.54 0.017 -6.431 0.001 -3.243 0.001 0.000 0.063 0.000 0.016 3.218 0.063 . ENSG00000127586.12|ENSG00000102854.10|ENSG00000162006.5|ENSG00000102854.10|ENSG00000162006.5 Brain_Cerebellum|Lung|Lung|Pituitary|Testis 0.2582 0.5277 0.2880 0.2121 0.2859 0.1769 0.2238 0.2484 0.2767 0.3164 0.5237 0.2734 0.2020 0.2943 0.1732 0.2416 0.2474 het 333.43 21 16 818559 . A G 333.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.604;DP=21;Dels=0.00;FS=4.123;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-0.817;QD=15.88;ReadPosRankSum=0.178;VQSLOD=5.7739;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,12:21:99:363,0,249 16 1004605 1004605 A G exonic LMF1 synonymous SNV LMF1:NM_022773:exon2:c.T255C:p.L85L 0.037 0.017 0.062 0.011 0.058 0.054 0.0571 0.0299 0.0510 0.0060 0.0452 0.0707 0.0468 0.0546 0.052 0.028 0.064 0.033 . rs12448005 COSM434591 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0547 0.0310 0.0490 0.0484 0.0056 0.0418 0.0709 0.0576 0.0527 0.0528 0.0357 0.0525 0.0364 0.0062 0.0392 0.0705 0.0652 het 1373.49 95 16 1004605 . A G 1373.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.101;DP=95;Dels=0.00;FS=0.828;HRun=3;HaplotypeScore=0.8321;MQ=59.56;MQ0=0;MQRankSum=0.034;QD=14.46;ReadPosRankSum=1.071;VQSLOD=6.5943;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,51:95:99:1403,0,1177 16 1034834 1034834 T C exonic SOX8 synonymous SNV SOX8:NM_014587:exon3:c.T789C:p.N263N 1. 1. 1. 1. 1. 1. 0.9999 0.9998 1 1 1 1.0000 1 0.9999 . . . 0.89 0.98 rs237674 COSM4595295 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9999 0.9999 1 1 1 0.9999 1 0.9999 0.9999 1 1 1 1 1 0.9998 1 hom 1574.30 58 16 1034834 . T C 1574.30 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=27.14;VQSLOD=7.5303;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1607,123,0 16 1034954 1034954 T C exonic SOX8 synonymous SNV SOX8:NM_014587:exon3:c.T909C:p.Y303Y 0.34 0.58 0.29 0.11 0.31 0.35 0.3395 0.5917 0.2691 0.1224 0.4133 0.3337 0.3113 0.3401 0.37 0.56 0.28 0.24 0.13 rs11542178 COSM3754598 2(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2906 0.5694 0.2344 0.1912 0.1024 0.3338 0.2997 0.2756 0.3113 0.3752 0.5660 0.2554 0.1788 0.1059 0.3383 0.3171 0.3161 hom 350.90 12 16 1034954 . T C 350.90 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.24;VQSLOD=12.8716;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.08:384,36,0 16 1035197 1035197 C T exonic SOX8 synonymous SNV SOX8:NM_014587:exon3:c.C1152T:p.G384G . . . . . . 9.414e-06 0 0 0 0 1.723e-05 0 0 . . . . . rs775734080 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.11e-05 0 0 0 0 0 3.807e-05 0 3.267e-05 . . . . . . . . het 300.82 20 16 1035197 . C T 300.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.119;DP=20;Dels=0.00;FS=2.935;HRun=0;HaplotypeScore=0.7340;MQ=58.84;MQ0=0;MQRankSum=0.733;QD=15.04;ReadPosRankSum=-0.424;VQSLOD=4.5210;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:331,0,207 16 1129872 1129872 C T exonic SSTR5 nonsynonymous SNV SSTR5:NM_001053:exon1:c.C1004T:p.P335L,SSTR5:NM_001172560:exon2:c.C1004T:p.P335L 0.52 0.34 0.56 0.81 0.54 0.41 0.5386 0.3808 0.5674 0.8062 0.5937 0.5428 0.5656 0.4367 0.49 0.38 0.54 0.53 0.5 rs169068 COSM3754607 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.169 0.229 T 0.055 0.213 B 0.011 0.145 B 0.234 0.159 N 1 0.090 P 1.65 0.424 L -0.59 0.716 T -1.34 0.334 N 0.06 0.044 -0.970 0.373 T 0.000 0.000 T . . . 0.508 0.143 7.495 0.922 0.210 0.090 0.147 N c -0.653 -0.676 0.027 0.137 0.581 0.326 0 2.24 0.271 0.117 0.153 0.017 0.142 0.000 0.063 0.054 0.167 6.593 0.217 . ENSG00000261720.1|ENSG00000162009.7|ENSG00000261505.1 Heart_Left_Ventricle|Heart_Left_Ventricle|Lung 0.5423 0.3708 0.5547 0.5818 0.8076 0.5910 0.5373 0.5654 0.4319 0.5090 0.3736 0.5359 0.5828 0.8099 0.6027 0.5277 0.5491 het 295.53 28 16 1129872 . C T 295.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.876;DP=28;Dels=0.00;FS=1.520;HRun=0;HaplotypeScore=0.9997;MQ=59.17;MQ0=0;MQRankSum=-0.116;QD=10.55;ReadPosRankSum=1.091;VQSLOD=6.5894;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:326,0,395 16 1129912 1129912 A G exonic SSTR5 synonymous SNV SSTR5:NM_001053:exon1:c.A1044G:p.P348P,SSTR5:NM_001172560:exon2:c.A1044G:p.P348P 0.94 0.93 0.98 0.94 0.98 0.87 0.9533 0.9370 0.9885 0.9344 0.9700 0.9699 0.9599 0.8793 0.96 0.94 0.97 0.62 0.8 rs642249 COSM3754608 1(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9563 0.9331 0.9872 0.9766 0.9315 0.9726 0.9705 0.9674 0.8789 0.9511 0.9394 0.9845 0.9735 0.9184 0.9734 0.9535 0.9582 hom 612.82 20 16 1129912 . A G 612.82 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.64;VQSLOD=12.8196;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:51.14:646,51,0 16 1250559 1250559 T C exonic CACNA1H synonymous SNV CACNA1H:NM_001005407:exon7:c.T1107C:p.I369I,CACNA1H:NM_021098:exon7:c.T1107C:p.I369I 0.33 0.49 0.3 0.1 0.41 0.3 0.3774 0.4870 0.2604 0.1115 0.4948 0.4205 0.3451 0.3165 0.44 0.46 0.43 0.38 . rs8044363 COSM3999711;COSM3999710;COSM3999709 2(haematopoietic_and_lymphoid_tissue);2(thyroid) Benign not_specified RCV000152871.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3710 0.4888 0.2615 0.2512 0.1142 0.4971 0.4315 0.3572 0.3118 0.4398 0.4926 0.2986 0.2333 0.1346 0.4986 0.4420 0.4172 het 1328.86 117 16 1250559 . T C 1328.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.933;DP=117;Dels=0.00;FS=4.643;HRun=0;HaplotypeScore=1.4450;MQ=59.11;MQ0=0;MQRankSum=-1.056;QD=11.36;ReadPosRankSum=0.260;VQSLOD=5.4168;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,56:117:99:1359,0,1658 16 1259337 1259337 C T exonic CACNA1H synonymous SNV CACNA1H:NM_001005407:exon17:c.C3669T:p.A1223A,CACNA1H:NM_021098:exon17:c.C3669T:p.A1223A 0.0004 . 0.0014 . 0.001 . 0.0012 0 0.0003 0 0.0012 0.0018 0.0025 0.0004 0.0009 . 0.0013 . . rs59954346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0 0.0004 0 0 0.0009 0.0018 0.0006 0.0003 0.0009 0.0001 0 0 0 0.0003 0.0017 0 het 377.34 40 16 1259337 . C T 377.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.629;DP=40;Dels=0.00;FS=3.410;HRun=0;HaplotypeScore=1.5661;MQ=59.06;MQ0=0;MQRankSum=0.192;QD=9.43;ReadPosRankSum=-0.164;VQSLOD=5.6007;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,17:40:99:407,0,665 16 1260481 1260481 T C exonic CACNA1H synonymous SNV CACNA1H:NM_001005407:exon19:c.T3957C:p.D1319D,CACNA1H:NM_021098:exon19:c.T3957C:p.D1319D 0.92 0.94 0.85 1. 0.83 0.96 0.8601 0.9111 0.8725 0.9995 0.8521 0.8124 0.8653 0.9413 0.85 0.91 0.81 0.17 . rs8063574 COSM4128661;COSM4128660;COSM4128659 1(thyroid) Benign not_specified RCV000082071.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8598 0.9113 0.8726 0.8770 0.9992 0.8532 0.8052 0.8501 0.9402 0.8546 0.9118 0.8735 0.9007 0.9988 0.8661 0.8014 0.8487 het 509.98 38 16 1260481 . T C 509.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.654;DP=38;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=59.01;MQ0=0;MQRankSum=1.598;QD=13.42;ReadPosRankSum=1.186;VQSLOD=6.0473;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:540,0,382 16 1261219 1261219 A G exonic CACNA1H synonymous SNV CACNA1H:NM_001005407:exon22:c.A4275G:p.S1425S,CACNA1H:NM_021098:exon22:c.A4275G:p.S1425S 0.71 0.75 0.72 0.87 0.64 0.56 0.6431 0.7332 0.7405 0.8938 0.7015 0.5953 0.6502 0.5587 0.64 0.73 0.6 0.74 . rs2753326 COSM3765849;COSM3765850;COSM3765851 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6517 0.7363 0.7389 0.6898 0.8926 0.6947 0.5882 0.6508 0.5662 0.6607 0.7389 0.7115 0.7067 0.8878 0.7187 0.5760 0.6191 het 1463.36 111 16 1261219 . A G 1463.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.072;DP=111;Dels=0.00;FS=4.374;HRun=0;HaplotypeScore=3.3098;MQ=59.46;MQ0=0;MQRankSum=0.676;QD=13.18;ReadPosRankSum=-1.821;VQSLOD=4.5428;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,58:111:99:1493,0,1380 16 1261222 1261222 A G exonic CACNA1H synonymous SNV CACNA1H:NM_001005407:exon22:c.A4278G:p.S1426S,CACNA1H:NM_021098:exon22:c.A4278G:p.S1426S 0.71 0.75 0.72 0.87 0.64 0.56 0.6432 0.7340 0.7405 0.8938 0.7015 0.5954 0.6502 0.5586 0.64 0.73 0.6 0.74 . rs2753325 COSM3765853;COSM3765852;COSM3765854 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6518 0.7371 0.7390 0.6899 0.8927 0.6947 0.5884 0.6509 0.5663 0.6611 0.7394 0.7115 0.7067 0.8874 0.7191 0.5764 0.6191 het 1343.78 117 16 1261222 . A G 1343.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.562;DP=117;Dels=0.00;FS=5.581;HRun=0;HaplotypeScore=4.2763;MQ=59.48;MQ0=0;MQRankSum=-1.176;QD=11.49;ReadPosRankSum=-1.463;VQSLOD=4.2686;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,60:117:99:1374,0,1484 16 1261282 1261282 T C exonic CACNA1H synonymous SNV CACNA1H:NM_001005407:exon22:c.T4338C:p.I1446I,CACNA1H:NM_021098:exon22:c.T4338C:p.I1446I 0.92 0.93 0.85 1. 0.82 0.96 0.8597 0.9065 0.8717 0.9994 0.8521 0.8127 0.8626 0.9419 0.85 0.91 0.82 0.71 . rs4984637 COSM3765857;COSM3765855;COSM3765856 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8598 0.9073 0.8725 0.8772 0.9994 0.8515 0.8062 0.8493 0.9408 0.8538 0.9082 0.8696 0.9007 0.9988 0.8664 0.8019 0.8504 het 2315.17 156 16 1261282 . T C 2315.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.730;DP=156;Dels=0.00;FS=0.595;HRun=0;HaplotypeScore=0.9469;MQ=59.54;MQ0=1;MQRankSum=-0.611;QD=14.84;ReadPosRankSum=2.771;VQSLOD=5.2711;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,87:156:99:2345,0,1677 16 1270162 1270162 G A exonic CACNA1H nonsynonymous SNV CACNA1H:NM_001005407:exon34:c.G6212A:p.R2071H,CACNA1H:NM_021098:exon35:c.G6230A:p.R2077H 0.7 0.73 0.71 0.87 0.64 0.55 0.6628 0.7188 0.7567 0.8921 0.7249 0.6117 0.6904 0.5871 0.65 0.73 0.61 0.72 . rs1054645 COSM434645;COSM3754643;COSM434644 1(breast);1(thyroid);2(large_intestine) Benign not_specified RCV000082076.4 MedGen CN169374 . . . . . . 0.588 0.058 T 0.001 0.067 B 0.001 0.040 B . . . 1.000 0.182 P -0.11 0.046 N 1.43 0.330 T 0.45 0.032 N 0.231 0.283 -1.048 0.149 T 0.000 0.000 T . . . 0.919 0.182 10.19 0.987 0.448 0.143 0.181 N c -1.090 -1.000 0.075 0.157 0.696 0.567 0 0.758 0.175 -0.784 0.047 -0.246 0.091 0.000 0.063 0.418 0.257 8.247 0.307 . ENSG00000116176.6|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000197253.9|ENSG00000197253.9|ENSG00000197253.9|ENSG00000095917.9|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach 0.6561 0.7056 0.7462 0.7071 0.8936 0.7005 0.5951 0.6633 0.5690 0.6520 0.7014 0.7057 0.7086 0.8837 0.7181 0.5806 0.6201 het 88.57 10 16 1270162 . G A 88.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=0.851;QD=8.86;ReadPosRankSum=0.676;VQSLOD=5.6028;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:119,0,143 16 1270349 1270349 T C exonic CACNA1H synonymous SNV CACNA1H:NM_001005407:exon34:c.T6399C:p.D2133D,CACNA1H:NM_021098:exon35:c.T6417C:p.D2139D 0.91 0.93 0.84 1. 0.83 0.94 0.8583 0.9034 0.8737 0.9992 0.8562 0.8137 0.8807 0.9277 0.86 0.92 0.83 0.92 . rs4247094 COSM3749327;COSM3749328;COSM3749326 1(thyroid);10(large_intestine) Benign not_specified RCV000082078.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8576 0.9042 0.8694 0.8884 0.9993 0.8516 0.8068 0.8512 0.9246 0.8593 0.9090 0.8669 0.9139 0.9988 0.8756 0.8101 0.8554 het 117.64 16 16 1270349 . T C 117.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.054;DP=16;Dels=0.00;FS=1.987;HRun=0;HaplotypeScore=1.9978;MQ=60.00;MQ0=0;MQRankSum=0.163;QD=7.35;ReadPosRankSum=0.705;VQSLOD=4.8899;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,6:16:99:148,0,284 16 1271890 1271890 G T exonic TPSG1 nonsynonymous SNV TPSG1:NM_012467:exon6:c.C864A:p.F288L 0.61 0.59 0.63 0.85 0.52 0.48 0.5481 0.5919 0.6856 0.8741 0.6251 0.4850 0.5372 0.4737 0.52 0.59 0.48 0.59 0.31 rs1004041 COSM3754644 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T . . . . . . . . . 1.000 0.090 P . . . -2.15 0.865 D 0.33 0.039 N 0.03 0.011 -0.960 0.393 T 0.000 0.000 T . . . -0.407 0.061 0.372 0.679 0.082 0.422 0.266 N c -0.706 -0.795 1.000 0.434 0.581 0.326 0 2.49 0.291 0.412 0.207 -0.066 0.121 0.086 0.223 0.044 0.160 8.075 0.297 . ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000095917.9|ENSG00000260182.1|ENSG00000197253.9|ENSG00000197253.9|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000095917.9|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000116176.6|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid 0.5545 0.5936 0.6826 0.4985 0.8722 0.6122 0.4776 0.5342 0.4732 0.5534 0.6000 0.6352 0.4832 0.8646 0.6428 0.4702 0.5236 het 197.45 14 16 1271890 . G T 197.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.715;DP=14;Dels=0.00;FS=2.363;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.193;QD=14.10;ReadPosRankSum=0.386;VQSLOD=6.5816;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,8:14:99:227,0,180 16 1272038 1272038 G A exonic TPSG1 nonsynonymous SNV TPSG1:NM_012467:exon6:c.C716T:p.T239I 0.88 0.9 0.8 1. 0.77 0.89 0.8069 0.8711 0.8431 0.9994 0.8097 0.7497 0.8055 0.8685 0.79 0.87 0.75 0.89 0.67 rs11248860 COSM434650 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -3.165 0.000 N -2.51 0.893 D 3.74 0.001 N 0.23 0.282 -0.942 0.423 T 0.000 0.000 T . . . -1.146 0.027 0.008 0.600 0.062 0.001 0.007 N c -1.539 -1.354 0.966 0.288 0.701 0.575 0 4.1 0.470 1.292 0.327 0.087 0.193 0.001 0.137 0.006 0.095 8.066 0.296 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000116176.6|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000197253.9|ENSG00000197253.9|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000197253.9|ENSG00000197253.9|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000116176.6|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000197253.9|ENSG00000197253.9|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000197253.9|ENSG00000260182.1|ENSG00000100726.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Stomach|Thyroid 0.8081 0.8732 0.8412 0.7930 0.9993 0.8067 0.7453 0.7873 0.8679 0.8042 0.8749 0.8341 0.7848 0.9988 0.8224 0.7374 0.7863 het 600.53 54 16 1272038 . G A 600.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.314;DP=54;Dels=0.00;FS=7.729;HRun=1;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=-0.426;QD=11.12;ReadPosRankSum=1.349;VQSLOD=4.4352;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,24:54:99:631,0,806 16 1272865 1272865 G A exonic TPSG1 synonymous SNV TPSG1:NM_012467:exon4:c.C298T:p.L100L 0.8 0.73 0.77 0.9 0.76 0.84 0.7682 0.7245 0.7892 0.9139 0.8038 0.7326 0.7653 0.8314 0.73 0.73 0.73 0.78 0.57 rs4984639 COSM5517013 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7704 0.7223 0.7905 0.7837 0.9132 0.7960 0.7255 0.7624 0.8303 0.7455 0.7273 0.7780 0.7848 0.9083 0.8128 0.7197 0.7536 het 124.62 17 16 1272865 . G A 124.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.241;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.010;QD=7.33;ReadPosRankSum=1.684;VQSLOD=10.4379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,8:17:99:155,0,282 16 1306671 1306671 G A exonic TPSD1 synonymous SNV TPSD1:NM_012217:exon2:c.G237A:p.A79A 0.44 0.34 0.3 0.79 0.32 0.46 0.3692 0.3201 0.3352 0.7989 0.4444 0.3038 0.3523 0.4314 0.3 0.32 0.29 0.18 0.3 rs1141966 COSM3754653 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3468 0.3057 0.3146 0.1731 0.6844 0.4267 0.2956 0.3041 0.4061 0.2980 0.2779 0.3094 0.1623 0.5796 0.3592 0.2682 0.2990 het 1101.87 102 16 1306671 . G A 1101.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.296;DP=102;Dels=0.00;FS=4.006;HRun=0;HaplotypeScore=7.5206;MQ=57.18;MQ0=1;MQRankSum=-1.034;QD=10.80;ReadPosRankSum=-0.374;VQSLOD=2.3092;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,43:102:99:1132,0,1500 16 1306681 1306681 G A exonic TPSD1 nonsynonymous SNV TPSD1:NM_012217:exon2:c.G247A:p.V83M 0.44 0.33 0.3 0.79 0.32 0.46 0.3700 0.3181 0.3350 0.7992 0.4446 0.3047 0.3501 0.4344 0.3 0.32 0.3 0.2 0.28 rs1141967 COSM3754654 1(large_intestine) . . . . . . . . . . . 0.014 0.546 D 0.994 0.647 D 0.839 0.583 P 0.238 0.158 N 1 0.090 P 1.19 0.302 L -1.79 0.838 D -1.16 0.316 N 0.119 0.132 -0.902 0.478 T 0.000 0.000 T . . . 2.464 0.357 19.24 0.976 0.342 0.016 0.052 N c -0.838 -1.119 0.000 0.035 0.581 0.326 0 -2.38 0.062 -3.382 0.005 -0.543 0.048 0.000 0.063 0.161 0.208 1.012 0.014 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000261294.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9|ENSG00000260182.1|ENSG00000095917.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid 0.3460 0.2981 0.3103 0.1767 0.7479 0.4322 0.2955 0.3024 0.4087 0.3097 0.2740 0.3245 0.1949 0.6193 0.3779 0.2933 0.3123 het 998.56 92 16 1306681 . G A 998.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.613;DP=92;Dels=0.00;FS=7.329;HRun=0;HaplotypeScore=6.5867;MQ=57.85;MQ0=1;MQRankSum=0.017;QD=10.85;ReadPosRankSum=-0.454;VQSLOD=3.2354;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,39:92:99:1029,0,1311 16 1364365 1364365 A G exonic UBE2I synonymous SNV UBE2I:NM_003345:exon3:c.A138G:p.P46P,UBE2I:NM_194260:exon3:c.A138G:p.P46P,UBE2I:NM_194261:exon3:c.A138G:p.P46P,UBE2I:NM_194259:exon4:c.A138G:p.P46P 0.14 0.16 0.23 0.046 0.14 0.14 0.1496 0.1620 0.3162 0.0515 0.1395 0.1359 0.1231 0.1373 0.15 0.16 0.14 0.16 0.14 rs4610 COSM3754656 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1559 0.1652 0.3041 0.0719 0.0499 0.1307 0.1436 0.1499 0.1401 0.1449 0.1536 0.2590 0.0662 0.0433 0.1460 0.1455 0.1477 het 1152.16 100 16 1364365 . A G 1152.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.187;DP=100;Dels=0.00;FS=1.703;HRun=2;HaplotypeScore=3.7589;MQ=59.63;MQ0=0;MQRankSum=0.797;QD=11.52;ReadPosRankSum=0.173;VQSLOD=6.2236;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,45:100:99:1182,0,1522 16 1394507 1394507 A C exonic BAIAP3 nonsynonymous SNV BAIAP3:NM_001199096:exon17:c.A1532C:p.D511A,BAIAP3:NM_001199097:exon18:c.A1640C:p.D547A,BAIAP3:NM_001199098:exon18:c.A1571C:p.D524A,BAIAP3:NM_001199099:exon18:c.A1556C:p.D519A,BAIAP3:NM_001286464:exon18:c.A1691C:p.D564A,BAIAP3:NM_003933:exon18:c.A1745C:p.D582A 0.95 0.97 0.94 1. 0.9 0.93 0.9200 0.9694 0.9657 0.9994 0.8893 0.8975 0.9137 0.9190 0.92 0.97 0.9 0.96 0.86 rs1132356 COSM4128689 1(thyroid) . . . . . . . . . . . 0.77 0.044 T 0.0 0.026 B 0.0 0.013 B 0.736 0.064 N 1 0.090 P -0.755 0.017 N -0.47 0.704 T 0.63 0.024 N 0.01 0.022 -0.978 0.354 T 0.000 0.000 T . . . -0.778 0.041 0.048 0.530 0.048 0.001 0.009 N c -1.220 -1.159 1.000 0.500 0.677 0.550 0 3.1 0.346 -0.040 0.120 -0.022 0.129 0.000 0.063 0.117 0.195 6.123 0.193 . ENSG00000103275.14|ENSG00000090581.5|ENSG00000103275.14|ENSG00000090581.5|ENSG00000090581.5 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Thyroid 0.9201 0.9707 0.9622 0.9045 0.9995 0.8909 0.8957 0.9141 0.9200 0.9161 0.9681 0.9439 0.9272 0.9994 0.8841 0.8835 0.8990 hom 7346.35 215 16 1394507 . A C 7346.35 Mask AC=2;AF=1.00;AN=2;DP=215;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4207;MQ=59.16;MQ0=0;QD=34.17;VQSLOD=9.2242;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,215:215:99:7346,575,0 16 1397815 1397815 C T exonic BAIAP3 synonymous SNV BAIAP3:NM_001199096:exon30:c.C2910T:p.D970D,BAIAP3:NM_001199097:exon31:c.C3018T:p.D1006D,BAIAP3:NM_001199098:exon31:c.C2949T:p.D983D,BAIAP3:NM_001199099:exon31:c.C2934T:p.D978D,BAIAP3:NM_001286464:exon31:c.C3069T:p.D1023D,BAIAP3:NM_003933:exon31:c.C3123T:p.D1041D 0.34 0.19 0.59 0.22 0.46 0.36 0.4323 0.2272 0.6562 0.2137 0.4329 0.4640 0.3985 0.3750 0.37 0.22 0.45 0.23 0.27 rs1132358 COSM434657;COSM5825926 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4400 0.2164 0.6455 0.3973 0.2195 0.4417 0.4634 0.4622 0.3701 0.3795 0.2170 0.6127 0.3841 0.2187 0.4309 0.4636 0.4233 het 514.92 37 16 1397815 . C T 514.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.109;DP=37;Dels=0.00;FS=1.378;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=-0.441;QD=13.92;ReadPosRankSum=1.140;VQSLOD=6.3927;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,19:37:99:545,0,485 16 1536372 1536372 G A exonic PTX4 synonymous SNV PTX4:NM_001013658:exon3:c.C990T:p.P330P,PTX4:NM_001328608:exon3:c.C1005T:p.P335P 0.17 0.045 0.094 0.45 0.096 0.18 0.1232 0.0504 0.0688 0.4692 0.1334 0.0927 0.0942 0.1455 0.075 0.047 0.089 0.16 0.057 rs28444604 . . . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 0.999 0.588 P . . . 1.04 0.402 T -0.82 0.225 N . . . . . . . . . . . -0.091 0.085 1.797 0.609 0.064 0.007 0.031 N n -0.559 0.371 1.000 0.747 0.581 0.326 0 -11.2 0.001 -8.450 0.000 -3.784 0.001 0.000 0.063 0.000 0.016 14.347 0.661 . . . 0.1214 0.0462 0.0729 0.0615 0.4677 0.1292 0.0928 0.0931 0.1397 0.1027 0.0499 0.0647 0.0497 0.4753 0.1260 0.0908 0.1051 het 1332.53 91 16 1536372 . G A 1332.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.778;DP=91;Dels=0.00;FS=1.932;HRun=0;HaplotypeScore=0.9734;MQ=58.92;MQ0=0;MQRankSum=0.554;QD=14.64;ReadPosRankSum=-2.589;VQSLOD=4.5947;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,52:91:99:1363,0,956 16 1536535 1536535 C T exonic PTX4 nonsynonymous SNV PTX4:NM_001013658:exon3:c.G827A:p.R276K,PTX4:NM_001328608:exon3:c.G842A:p.R281K 0.5 0.75 0.32 0.52 0.37 0.38 0.4069 0.6950 0.2045 0.5328 0.4680 0.3764 0.3968 0.3953 0.47 0.67 0.37 0.62 0.37 rs2745098 COSM1749420;COSM1749419 1(urinary_tract);1(large_intestine) . . . . . . . . . . . 0.146 0.250 T 0.0 0.026 B 0.0 0.013 B 0.262 0.153 N 1 0.090 P -0.65 0.021 N 0.03 0.622 T 0.58 0.026 N 0.016 0.003 -0.916 0.461 T 0.000 0.000 T . . . 0.655 0.156 8.530 0.915 0.202 0.012 0.042 N c -1.329 -1.214 0.460 0.206 0.497 0.185 0 4.48 0.538 0.444 0.212 0.154 0.240 0.000 0.063 0.003 0.074 6.128 0.193 Concanavalin A-like lectin/glucanase domain ENSG00000100726.10|ENSG00000100726.10 Brain_Cortex|Brain_Frontal_Cortex_BA9 0.3959 0.7027 0.2259 0.3674 0.5244 0.4547 0.3742 0.3800 0.3651 0.4864 0.6905 0.2410 0.3510 0.5075 0.4691 0.3897 0.4294 het 872.45 72 16 1536535 . C T 872.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.122;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2808;MQ=58.83;MQ0=0;MQRankSum=-0.141;QD=12.12;ReadPosRankSum=0.367;VQSLOD=6.3555;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,34:72:99:902,0,1098 16 1537839 1537839 G A exonic PTX4 nonsynonymous SNV PTX4:NM_001013658:exon2:c.C259T:p.R87W,PTX4:NM_001328608:exon2:c.C274T:p.R92W 0.27 0.17 0.19 0.51 0.23 0.24 0.2431 0.1649 0.1299 0.5192 0.2476 0.2475 0.2109 0.2077 0.22 0.16 0.24 0.29 0.23 rs2745101 COSM3754686;COSM3754687 1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.007 0.131 B 0.003 0.080 B 0.042 0.019 N 1 0.090 P 1.5 0.380 L 3.6 0.332 T -1.94 0.609 N 0.111 0.134 -0.911 0.467 T 0.000 0.000 T . . . 4.111 0.552 23.7 0.993 0.598 0.098 0.153 N c -1.087 -1.111 1.000 0.747 0.581 0.326 0 -0.593 0.110 0.589 0.235 1.036 0.656 0.000 0.063 0.020 0.134 2.242 0.037 . . . 0.2389 0.1565 0.1423 0.2468 0.5121 0.2350 0.2472 0.2326 0.2032 0.2276 0.1570 0.1480 0.2351 0.5019 0.2325 0.2419 0.2321 het 3087.35 232 16 1537839 . G A 3087.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.810;DP=232;Dels=0.00;FS=3.478;HRun=0;HaplotypeScore=5.7643;MQ=59.84;MQ0=0;MQRankSum=1.057;QD=13.31;ReadPosRankSum=1.053;VQSLOD=4.6659;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,110:232:99:3117,0,3062 16 1538363 1538363 C A exonic PTX4 nonsynonymous SNV PTX4:NM_001013658:exon1:c.G106T:p.G36C 0.5 0.75 0.32 0.51 0.39 0.38 0.4071 0.6984 0.2119 0.5220 0.4728 0.3831 0.4020 0.3712 0.48 0.68 0.38 0.61 0.33 rs1040499 COSM3754689 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.451 0.090 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 3.13 0.080 T 0.57 0.026 N 0.039 0.019 -1.058 0.122 T 0.000 0.000 T . . . 1.837 0.282 15.21 0.881 0.172 0.008 0.031 N c -1.486 -1.611 1.000 0.480 0.554 0.283 0 -0.196 0.125 -1.122 0.034 -0.255 0.089 0.000 0.063 0.001 0.043 2.442 0.042 . ENSG00000100726.10|ENSG00000100726.10 Brain_Cortex|Brain_Frontal_Cortex_BA9 0.3954 0.7067 0.2278 0.3972 0.5147 0.4613 0.3794 0.3907 0.3669 0.4938 0.6954 0.2452 0.3742 0.5031 0.4774 0.3994 0.4367 het 1111.55 85 16 1538363 . C A 1111.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.459;DP=85;Dels=0.00;FS=10.673;HRun=0;HaplotypeScore=2.7889;MQ=59.86;MQ0=0;MQRankSum=-1.965;QD=13.08;ReadPosRankSum=0.330;VQSLOD=3.6148;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,42:85:99:1142,0,1155 16 1538433 1538433 A G exonic PTX4 synonymous SNV PTX4:NM_001013658:exon1:c.T36C:p.P12P 0.27 0.17 0.2 0.5 0.24 0.25 0.2485 0.1666 0.1368 0.5042 0.2506 0.2544 0.2165 0.2225 0.22 0.16 0.25 0.3 0.17 rs2745102 COSM3754690 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2458 0.1610 0.1488 0.2716 0.5037 0.2384 0.2538 0.2444 0.2177 0.2317 0.1621 0.1551 0.2583 0.4932 0.2342 0.2470 0.2337 het 647.77 83 16 1538433 . A G 647.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.779;DP=83;Dels=0.00;FS=3.189;HRun=2;HaplotypeScore=1.9536;MQ=58.71;MQ0=0;MQRankSum=-0.998;QD=7.80;ReadPosRankSum=-0.402;VQSLOD=4.3012;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,25:83:99:678,0,1556 16 1538464 1538464 C T exonic PTX4 nonsynonymous SNV PTX4:NM_001013658:exon1:c.G5A:p.G2E 0.26 0.13 0.19 0.5 0.24 0.24 0.2451 0.1339 0.1356 0.5016 0.2482 0.2541 0.2204 0.2215 0.21 0.13 0.25 0.3 0.2 rs2745103 COSM3754691 2(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.18 0.274 B 0.068 0.262 B 0.000 0.002 N 1 0.090 P . . . 3.19 0.074 T -0.65 0.189 N 0.063 0.048 -0.915 0.462 T 0.000 0.000 T . . . 3.381 0.465 23.0 0.547 0.051 0.092 0.148 N c -0.808 -0.929 0.969 0.290 0.554 0.283 0 0.856 0.181 0.124 0.154 0.841 0.343 0.000 0.063 0.001 0.043 4.118 0.095 . . . 0.2420 0.1257 0.1473 0.2711 0.5016 0.2367 0.2529 0.2428 0.2138 0.2216 0.1286 0.1555 0.2583 0.4900 0.2340 0.2465 0.2327 het 380.26 78 16 1538464 . C T 380.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.593;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9496;MQ=58.32;MQ0=0;MQRankSum=1.748;QD=4.88;ReadPosRankSum=-1.131;VQSLOD=3.4902;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,24:78:99:410,0,1503 16 1544301 1544301 G C exonic TELO2 nonsynonymous SNV TELO2:NM_016111:exon2:c.G19C:p.E7Q 0.29 0.24 0.2 0.51 0.24 0.24 0.2522 0.2242 0.1279 0.5106 0.2508 0.2548 0.2227 0.2140 0.016 0.018 0.016 . 0.2 rs2667660 COSM3754692 3(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.526 0.071 T 0.002 0.090 B 0.001 0.040 B 0.741 0.064 N 1 0.090 P 0.205 0.094 N 2.47 0.148 T -0.78 0.216 N 0.039 0.036 -0.908 0.471 T 0.000 0.000 T . . . -1.074 0.029 0.011 0.412 0.029 0.437 0.269 N c -1.275 -1.259 1.000 0.517 0.731 0.878 0 0.132 0.140 0.895 0.278 0.126 0.213 0.001 0.137 0.000 0.016 1.871 0.030 . ENSG00000100726.10 Brain_Cortex 0.2476 0.2162 0.1420 0.2771 0.5069 0.2375 0.2532 0.2457 0.2110 0.2458 0.2176 0.1547 0.2550 0.4818 0.2363 0.2438 0.2510 het 1979.69 134 16 1544301 . G C 1979.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.042;DP=134;Dels=0.00;FS=1.028;HRun=0;HaplotypeScore=1.9981;MQ=59.55;MQ0=0;MQRankSum=0.466;QD=14.77;ReadPosRankSum=-0.223;VQSLOD=6.0040;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,68:134:99:2010,0,1955 16 1544302 1544302 A G exonic TELO2 nonsynonymous SNV TELO2:NM_016111:exon2:c.A20G:p.E7G 0.29 0.23 0.2 0.51 0.24 0.24 0.2521 0.2241 0.1278 0.5099 0.2508 0.2548 0.2222 0.2139 0.014 0.015 0.013 . 0.2 rs2667661 COSM4128713 3(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid) . . . . . . . . . . . 0.37 0.115 T 0.0 0.026 B 0.0 0.013 B 0.741 0.064 N 1 0.090 P 0.55 0.145 N 2.42 0.154 T -1.18 0.301 N 0.011 0.006 -0.904 0.475 T 0.000 0.000 T . . . -1.249 0.024 0.005 0.695 0.087 0.042 0.096 N c -2.159 -2.200 1.000 0.747 0.731 0.878 0 -7.1 0.014 -0.071 0.114 -3.564 0.001 0.000 0.063 0.000 0.016 3.174 0.061 . . . 0.2475 0.2161 0.1420 0.2772 0.5067 0.2378 0.2531 0.2453 0.2110 0.2460 0.2174 0.1547 0.2550 0.4842 0.2362 0.2442 0.2515 het 1799.49 137 16 1544302 . A G 1799.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.985;DP=137;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8210;MQ=59.56;MQ0=0;MQRankSum=-0.002;QD=13.13;ReadPosRankSum=-0.618;VQSLOD=6.5295;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,70:137:99:1829,0,1758 16 1559838 1559838 T C exonic TELO2 synonymous SNV TELO2:NM_016111:exon21:c.T2415C:p.A805A 0.42 0.69 0.21 0.42 0.25 0.39 0.3305 0.6428 0.1622 0.4100 0.3117 0.2789 0.3518 0.4092 0.38 0.62 0.26 0.38 0.28 rs3180228 COSM3754698 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2917 0.6383 0.1544 0.2792 0.3916 0.2536 0.2534 0.2835 0.3889 0.3770 0.6448 0.1718 0.2616 0.3932 0.2612 0.2653 0.2953 het 298.91 32 16 1559838 . T C 298.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.190;DP=32;Dels=0.00;FS=1.446;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.378;QD=9.34;ReadPosRankSum=1.662;VQSLOD=5.7352;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,15:32:99:329,0,470 16 1574863 1574863 G A exonic IFT140 synonymous SNV IFT140:NM_014714:exon23:c.C2919T:p.A973A 0.23 0.24 0.13 0.32 0.17 0.26 0.1985 0.2146 0.1021 0.3004 0.2230 0.1805 0.2241 0.2641 0.19 0.21 0.18 0.21 0.2 rs2235640 COSM3754700 1(large_intestine) Likely benign|Benign not_specified|Renal_dysplasia\x2c_retinal_pigmentary_dystrophy\x2c_cerebellar_ataxia_and_skeletal_dysplasia RCV000117259.2|RCV000315262.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1849437:266920:ORPHA140969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1942 0.2060 0.107 0.2078 0.2995 0.2144 0.1779 0.1959 0.2641 0.2039 0.2094 0.1146 0.2020 0.2873 0.2197 0.1924 0.2146 het 990.70 79 16 1574863 . G A 990.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.966;DP=79;Dels=0.00;FS=3.139;HRun=0;HaplotypeScore=3.2046;MQ=59.42;MQ0=0;MQRankSum=-0.152;QD=12.54;ReadPosRankSum=1.201;VQSLOD=5.7801;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,39:79:99:1021,0,1078 16 1591962 1591962 G A exonic TMEM204 synonymous SNV TMEM204:NM_024600:exon2:c.G321A:p.T107T,TMEM204:NM_001256541:exon3:c.G321A:p.T107T 0.31 0.42 0.16 0.34 0.19 0.33 0.2388 0.3897 0.1240 0.3166 0.2566 0.2024 0.2582 0.3290 0.25 0.36 0.19 0.28 0.18 rs2076443 COSM434706 1(urinary_tract);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2286 0.3836 0.1251 0.2132 0.3065 0.2464 0.1987 0.2246 0.3207 0.2662 0.3723 0.1435 0.2053 0.2824 0.2489 0.2156 0.2551 het 1082.18 77 16 1591962 . G A 1082.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.980;DP=77;Dels=0.00;FS=0.918;HRun=0;HaplotypeScore=1.9566;MQ=59.27;MQ0=0;MQRankSum=0.464;QD=14.05;ReadPosRankSum=-1.197;VQSLOD=5.8137;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,39:77:99:1112,0,983 16 1608082 1608082 A G exonic IFT140 synonymous SNV IFT140:NM_014714:exon19:c.T2253C:p.P751P 0.35 0.55 0.18 0.34 0.21 0.34 0.2563 0.4946 0.1323 0.3152 0.2575 0.2157 0.2698 0.3255 0.31 0.49 0.22 0.34 0.25 rs2076436 COSM148006 1(stomach);2(haematopoietic_and_lymphoid_tissue) Likely benign|Benign not_specified|Renal_dysplasia\x2c_retinal_pigmentary_dystrophy\x2c_cerebellar_ataxia_and_skeletal_dysplasia RCV000117258.2|RCV000383469.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1849437:266920:ORPHA140969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2478 0.5030 0.1361 0.2622 0.3058 0.2513 0.2138 0.2432 0.3278 0.3059 0.4851 0.1492 0.2517 0.2803 0.2496 0.2297 0.2721 het 1804.75 176 16 1608082 . A G 1804.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.253;DP=176;Dels=0.00;FS=1.267;HRun=3;HaplotypeScore=3.7358;MQ=59.55;MQ0=0;MQRankSum=0.922;QD=10.25;ReadPosRankSum=0.491;VQSLOD=6.1601;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,72:176:99:1835,0,2850 16 1614097 1614097 A G exonic IFT140 synonymous SNV IFT140:NM_014714:exon17:c.T1968C:p.S656S 0.51 0.72 0.39 0.57 0.3 0.45 0.3909 0.6541 0.4985 0.5447 0.3165 0.3105 0.3896 0.4237 0.42 0.64 0.31 0.47 0.31 rs8048410 COSM3754702 1(large_intestine) Likely benign|Benign not_specified|Renal_dysplasia\x2c_retinal_pigmentary_dystrophy\x2c_cerebellar_ataxia_and_skeletal_dysplasia RCV000117257.2|RCV000339245.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1849437:266920:ORPHA140969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3887 0.6604 0.4811 0.4184 0.5369 0.3092 0.3056 0.3755 0.4262 0.4316 0.6528 0.4366 0.4205 0.5161 0.3047 0.3273 0.3737 het 1104.74 94 16 1614097 . A G 1104.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.042;DP=94;Dels=0.00;FS=0.828;HRun=0;HaplotypeScore=5.3956;MQ=59.26;MQ0=0;MQRankSum=0.372;QD=11.75;ReadPosRankSum=0.835;VQSLOD=4.7294;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,44:94:99:1135,0,1262 16 1797050 1797050 C T exonic MAPK8IP3 synonymous SNV MAPK8IP3:NM_001040439:exon6:c.C765T:p.S255S,MAPK8IP3:NM_001318852:exon6:c.C768T:p.S256S,MAPK8IP3:NM_015133:exon6:c.C765T:p.S255S 0.086 0.089 0.048 0.084 0.09 0.1 0.0863 0.0963 0.0328 0.0793 0.0847 0.0925 0.0986 0.0973 0.094 0.095 0.094 0.076 0.049 rs2294613 COSM3754717;COSM3754718 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0852 0.0948 0.0342 0.1073 0.0843 0.0838 0.0947 0.0792 0.0976 0.0959 0.0974 0.0358 0.1126 0.0885 0.0840 0.1024 0.0847 het 672.03 44 16 1797050 . C T 672.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.557;DP=44;Dels=0.00;FS=3.214;HRun=0;HaplotypeScore=0.8321;MQ=59.05;MQ0=0;MQRankSum=-1.591;QD=15.27;ReadPosRankSum=-0.035;VQSLOD=5.2746;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,24:44:99:702,0,558 16 1820992 1820992 T A exonic NME3 synonymous SNV NME3:NM_002513:exon4:c.A282T:p.V94V 0.76 0.85 0.88 0.64 0.79 0.67 0.7912 0.8378 0.8971 0.6495 0.7952 0.8022 0.7882 0.7199 0.84 0.86 0.83 0.66 0.6 rs11890 COSM3749340 2(thyroid);8(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 0.515 0.143 7.542 0.692 0.086 0.758 0.368 D n 2.010 6.534 1.000 0.747 0.733 0.969 0 1.37 0.211 0.189 0.167 -0.528 0.049 0.978 0.348 0.791 0.333 4.440 0.109 . ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000197774.8|ENSG00000197774.8|ENSG00000063854.8|ENSG00000197774.8|ENSG00000162039.10|ENSG00000099769.5 Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Colon_Transverse|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.7925 0.8339 0.8944 0.8315 0.6475 0.8002 0.7972 0.8082 0.7086 0.8018 0.8295 0.8807 0.8046 0.6714 0.7911 0.7992 0.7807 het 325.96 27 16 1820992 . T A 325.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.305;DP=27;Dels=0.00;FS=8.751;HRun=1;HaplotypeScore=1.7876;MQ=59.14;MQ0=0;MQRankSum=0.412;QD=12.07;ReadPosRankSum=1.383;VQSLOD=4.0484;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,13:27:99:356,0,400 16 1823444 1823444 C G exonic EME2 synonymous SNV EME2:NM_001257370:exon1:c.C216G:p.V72V 0.34 0.091 0.49 0.28 0.57 0.38 0.5569 0.2133 0.6257 0.3582 0.5729 0.6366 0.5390 0.4348 0.42 0.14 0.54 0.25 0.17 rs761065 COSM3749343;COSM3749342 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5068 0.1360 0.5595 0.5830 0.2999 0.5033 0.5937 0.5357 0.3903 0.4234 0.1388 0.5467 0.5795 0.3053 0.4753 0.5734 0.5235 het 56.60 10 16 1823444 . C G 56.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.386;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.296;QD=5.66;ReadPosRankSum=1.386;VQSLOD=9.6895;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,3:10:86.59:87,0,190 16 1827836 1827836 T C exonic SPSB3 synonymous SNV SPSB3:NM_001324081:exon6:c.A633G:p.S211S,SPSB3:NM_080861:exon6:c.A633G:p.S211S 0.85 0.97 0.92 0.74 0.86 0.76 0.8592 0.9584 0.9425 0.7610 0.8026 0.8740 0.8462 0.7553 0.9 0.95 0.87 0.87 0.85 rs1178432 COSM4128747 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8593 0.9596 0.9409 0.8889 0.7650 0.7998 0.8740 0.8620 0.7532 0.8739 0.9566 0.9258 0.8967 0.7556 0.7919 0.8550 0.8640 hom 1279.11 39 16 1827836 . T C 1279.11 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.80;VQSLOD=14.6946;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1312,108,0 16 1836796 1836796 C A exonic NUBP2 synonymous SNV NUBP2:NM_012225:exon3:c.C174A:p.I58I 0.49 0.55 0.61 0.41 0.59 0.33 0.5512 0.5514 0.6996 0.4340 0.5029 0.6025 0.5373 0.3220 0.59 0.55 0.6 0.58 0.44 rs2235648 COSM434733 1(thyroid);2(large_intestine) . . . . . . . . . . . 0.363 0.118 T . . . . . . . . . 0.000 0.588 P . . . . . . 0.93 0.016 N . . . . . . . . . . . 1.325 0.223 12.40 0.946 0.245 0.402 0.261 N n 0.826 1.051 1.000 0.747 0.707 0.730 0 -4.44 0.033 0.084 0.146 -0.613 0.043 0.904 0.313 0.847 0.353 1.142 0.016 . ENSG00000063854.8|ENSG00000063854.8|ENSG00000197774.8|ENSG00000063854.8|ENSG00000197774.8|ENSG00000197774.8|ENSG00000180185.7|ENSG00000074071.9|ENSG00000099769.5|ENSG00000197774.8|ENSG00000197774.8|ENSG00000063854.8|ENSG00000074071.9|ENSG00000063854.8|ENSG00000063854.8|ENSG00000074071.9|ENSG00000063854.8|ENSG00000197774.8|ENSG00000197774.8|ENSG00000099769.5|ENSG00000197774.8|ENSG00000063854.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.5519 0.5443 0.6841 0.6259 0.4375 0.5015 0.5992 0.5731 0.3160 0.545 0.5306 0.6579 0.6007 0.4407 0.4931 0.5694 0.5452 het 490.82 39 16 1836796 . C A 490.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.523;DP=39;Dels=0.00;FS=1.273;HRun=0;HaplotypeScore=0.5784;MQ=59.41;MQ0=0;MQRankSum=0.323;QD=12.59;ReadPosRankSum=0.059;VQSLOD=6.9021;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,21:39:99:521,0,415 16 1838640 1838640 T C exonic NUBP2 nonsynonymous SNV NUBP2:NM_001284502:exon6:c.T295C:p.W99R 0.82 0.96 0.79 0.72 0.8 0.79 0.8145 0.9399 0.8282 0.7537 0.7284 0.8225 0.8113 0.7601 0.86 0.93 0.82 0.81 0.66 rs344359 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8068 0.9432 0.8220 0.8501 0.7549 0.7113 0.8214 0.8067 0.7533 0.8246 0.9362 0.8103 0.8667 0.7547 0.7146 0.7944 0.7996 hom 962.79 30 16 1838640 . T C 962.79 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.09;VQSLOD=14.2061;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:81.23:996,81,0 16 1838703 1838703 G A exonic NUBP2 nonsynonymous SNV NUBP2:NM_001284502:exon6:c.G358A:p.V120M 0.029 0.0061 0.059 0.002 0.072 0.021 0.0562 0.0169 0.0378 0.0030 0.0535 0.0796 0.0688 0.0280 0.055 0.02 0.073 0.043 0.057 rs11540961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0539 0.0119 0.0428 0.0729 0.0030 0.0458 0.0777 0.0690 0.0270 0.0484 0.0139 0.0430 0.0629 0.0056 0.0516 0.0716 0.0603 het 732.96 52 16 1838703 . G A 732.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.028;DP=52;Dels=0.00;FS=16.104;HRun=0;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;MQRankSum=0.194;QD=14.10;ReadPosRankSum=-1.547;VQSLOD=3.4212;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,30:52:99:763,0,554 16 1841033 1841033 G A exonic IGFALS synonymous SNV IGFALS:NM_001146006:exon2:c.C1500T:p.Y500Y,IGFALS:NM_004970:exon2:c.C1386T:p.Y462Y 0.26 0.48 0.092 0.15 0.093 0.34 0.1541 0.4483 0.0652 0.1423 0.0737 0.0910 0.1364 0.3257 0.19 0.38 0.09 0.2 0.14 rs17559 COSM434735;COSM3749344 3(large_intestine) Benign Acid-labile_subunit_deficiency RCV000278610.1 MedGen:OMIM CN069120:615961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1439 0.4485 0.0665 0.0892 0.1421 0.0685 0.0937 0.1071 0.3200 0.2017 0.4548 0.0800 0.0960 0.1441 0.0741 0.1049 0.1232 het 182.01 37 16 1841033 . G A 182.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.602;DP=37;Dels=0.00;FS=3.350;HRun=0;HaplotypeScore=1.6598;MQ=60.00;MQ0=0;MQRankSum=0.195;QD=4.92;ReadPosRankSum=-1.115;VQSLOD=4.0648;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,9:37:99:212,0,748 16 1842209 1842209 A G exonic IGFALS synonymous SNV IGFALS:NM_001146006:exon2:c.T324C:p.D108D,IGFALS:NM_004970:exon2:c.T210C:p.D70D 0.78 0.82 0.78 0.73 0.8 0.78 0.8018 0.8273 0.8251 0.7458 0.7198 0.8206 0.8003 0.7560 0.82 0.82 0.82 0.79 0.7 rs3751893 COSM434736;COSM3754724 1(thyroid);6(large_intestine) Benign Acid-labile_subunit_deficiency RCV000362696.1 MedGen:OMIM CN069120:615961 . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . -6.0 0.895 D . . . . . . . . . . . -1.785 0.011 0.002 0.266 0.013 0.025 0.068 N n -0.341 0.620 1.000 0.747 0.581 0.326 0 -10.7 0.002 -2.888 0.008 -1.871 0.006 0.000 0.063 0.000 0.016 6.588 0.217 . ENSG00000206053.8|ENSG00000180185.7|ENSG00000063854.8|ENSG00000162039.10|ENSG00000162039.10|ENSG00000180185.7|ENSG00000063854.8|ENSG00000162040.5|ENSG00000197774.8|ENSG00000180185.7|ENSG00000063854.8|ENSG00000180185.7|ENSG00000063854.8|ENSG00000095906.12|ENSG00000180185.7|ENSG00000197774.8|ENSG00000063854.8|ENSG00000099769.5|ENSG00000063854.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid 0.7980 0.8257 0.8168 0.8505 0.7510 0.7144 0.8201 0.7995 0.7514 0.7933 0.8273 0.8150 0.8676 0.7466 0.7131 0.7944 0.7949 hom 603.12 20 16 1842209 . A G 603.12 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.16;VQSLOD=13.9236;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:51.15:636,51,0 16 1961674 1961674 G C exonic HS3ST6 nonsynonymous SNV HS3ST6:NM_001009606:exon2:c.C946G:p.L316V 0.6 0.63 0.49 0.52 0.57 0.73 0.5915 0.6222 0.4202 0.5440 0.6653 0.5787 0.6211 0.7167 0.56 0.59 0.55 0.54 . rs337285 COSM3754746;COSM3754745 1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.202 P -1.89 0.002 N -1.62 0.824 D 2.41 0.003 N 0.036 0.019 -0.940 0.427 T 0.000 0.000 T . . . -2.374 0.004 0.001 0.090 0.001 0.092 0.148 N c -1.529 -1.335 0.035 0.142 0.516 0.203 0 1.84 0.242 3.247 0.509 -0.512 0.051 0.999 0.424 0.016 0.126 5.449 0.157 P-loop containing nucleoside triphosphate hydrolase ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000162040.5|ENSG00000197774.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000180185.7|ENSG00000099769.5|ENSG00000197774.8|ENSG00000063854.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.5615 0.5992 0.3978 0.5894 0.5086 0.6388 0.5534 0.5621 0.7119 0.5766 0.6047 0.4317 0.5563 0.4975 0.6448 0.5601 0.5957 het 523.29 40 16 1961674 . G C 523.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.004;DP=40;Dels=0.00;FS=3.847;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.867;QD=13.08;ReadPosRankSum=-1.192;VQSLOD=5.6387;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,19:40:99:553,0,626 16 1962047 1962047 G A exonic HS3ST6 synonymous SNV HS3ST6:NM_001009606:exon2:c.C573T:p.Y191Y 0.39 0.23 0.34 0.46 0.38 0.58 0.3804 0.2486 0.2830 0.4718 0.4720 0.3709 0.4035 0.5492 0.3 0.22 0.35 . . rs1657140 COSM3932256;COSM3932257 1(breast);1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3825 0.2362 0.3006 0.3166 0.4691 0.4674 0.3661 0.3821 0.5532 0.3630 0.2597 0.3141 0.3087 0.4644 0.4662 0.3902 0.3920 het 227.76 37 16 1962047 . G A 227.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.216;DP=37;Dels=0.00;FS=3.410;HRun=0;HaplotypeScore=0.8667;MQ=59.38;MQ0=0;MQRankSum=-0.249;QD=6.16;ReadPosRankSum=-0.216;VQSLOD=4.4473;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,11:37:99:258,0,662 16 1962132 1962132 G A exonic HS3ST6 nonsynonymous SNV HS3ST6:NM_001009606:exon2:c.C488T:p.A163V 0.47 0.44 0.35 0.5 0.39 0.68 0.4302 0.4470 0.3165 0.5173 0.4972 0.3948 0.4518 0.6628 0.36 0.39 0.35 0.4 . rs8055325 COSM4128763;COSM4128764 1(thyroid) . . . . . . . . . . . 0.694 0.042 T 0.712 0.402 P 0.446 0.442 B 0.000 0.843 D 0.000 0.588 P 0.865 0.215 L 0.41 0.571 T -3.69 0.704 D 0.113 0.123 -0.958 0.396 T 0.000 0.000 T . . . 1.759 0.272 14.75 0.997 0.840 0.931 0.571 D c -0.027 0.046 0.999 0.379 0.516 0.203 0 3.87 0.437 5.687 0.677 0.926 0.436 1.000 0.715 0.641 0.297 11.930 0.519 P-loop containing nucleoside triphosphate hydrolase|Sulfotransferase domain ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000074071.9|ENSG00000063854.8|ENSG00000099769.5|ENSG00000162040.5|ENSG00000162040.5|ENSG00000197774.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000197774.8|ENSG00000162040.5|ENSG00000162040.5|ENSG00000180185.7|ENSG00000197774.8|ENSG00000063854.8|ENSG00000063854.8|ENSG00000099769.5|ENSG00000197774.8|ENSG00000063854.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid 0.4113 0.4148 0.3027 0.3674 0.4952 0.4823 0.3682 0.4082 0.6517 0.4251 0.4355 0.3301 0.3510 0.4913 0.4897 0.4032 0.4311 het 101.13 16 16 1962132 . G A 101.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.898;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=0.306;QD=6.32;ReadPosRankSum=0.674;VQSLOD=6.0745;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,5:16:99:131,0,327 16 1997004 1997004 C T exonic RPL3L nonsynonymous SNV RPL3L:NM_005061:exon6:c.G784A:p.V262M 0.021 0.003 0.023 0.025 0.029 0.033 0.0255 0.0057 0.0089 0.0243 0.0418 0.0291 0.0282 0.0287 0.02 0.0048 0.027 0.033 . rs113956264 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.986 0.754 D 0.000 0.843 D 1 0.810 D 3.59 0.938 H -0.12 0.646 T -2.67 0.571 D 0.352 0.635 0.028 0.828 D 0.301 0.672 T . . . 5.817 0.796 27.2 0.999 0.940 0.978 0.769 D c 0.792 0.653 1.000 0.747 0.554 0.283 0 4.92 0.640 7.858 0.852 0.852 0.362 1.000 0.715 0.599 0.288 17.476 0.875 Translation protein\x2c beta-barrel domain . . 0.0250 0.0049 0.0101 0.0236 0.0241 0.0363 0.0294 0.0253 0.0276 0.0254 0.0050 0.0084 0.0232 0.0167 0.0384 0.0355 0.0367 het 1306.08 84 16 1997004 . C T 1306.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.865;DP=84;Dels=0.00;FS=11.256;HRun=0;HaplotypeScore=2.5657;MQ=59.70;MQ0=0;MQRankSum=0.162;QD=15.55;ReadPosRankSum=0.460;VQSLOD=3.7417;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,47:84:99:1336,0,957 16 2003016 2003016 G A exonic RPL3L nonsynonymous SNV RPL3L:NM_005061:exon3:c.C224T:p.A75V 0.006 0.0015 0.0029 . 0.023 0.0031 0.0270 0.0057 0.0074 0.0001 0.0433 0.0390 0.0221 0.0121 0.024 0.0059 0.034 . . rs140185678 COSM3754755 1(large_intestine) . . . . . . . . . . . 0.003 0.784 D 1.0 0.899 D 0.976 0.719 D 0.000 0.843 D 1 0.810 D 3.51 0.930 H 0.84 0.475 T -3.49 0.697 D 0.328 0.624 -0.066 0.809 T 0.226 0.590 T . . . 4.385 0.587 24.1 0.999 0.963 0.954 0.644 D c 0.952 0.826 1.000 0.747 0.526 0.212 0 5.28 0.740 9.521 0.971 0.932 0.445 1.000 0.715 0.970 0.461 17.900 0.888 Translation protein\x2c beta-barrel domain . . 0.0252 0.0061 0.0073 0.0141 0.0001 0.0411 0.0390 0.0249 0.0103 0.0313 0.0048 0.0095 0.0166 0 0.0450 0.0482 0.0358 het 1139.10 91 16 2003016 . G A 1139.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.136;DP=91;Dels=0.00;FS=1.723;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=2.457;QD=12.52;ReadPosRankSum=-0.128;VQSLOD=4.0746;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,48:91:99:1169,0,1058 16 2014283 2014283 A G exonic RPS2 synonymous SNV RPS2:NM_002952:exon3:c.T261C:p.P87P 0.86 0.99 0.78 0.87 0.81 0.79 0.8196 0.9662 0.6944 0.8553 0.8702 0.8104 0.8473 0.8111 0.86 0.96 0.8 0.83 0.81 rs2286466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8135 0.9679 0.6981 0.8117 0.8575 0.8683 0.8095 0.8068 0.8142 0.8759 0.9614 0.7243 0.8267 0.8685 0.8678 0.8402 0.8462 het 1278.04 73 16 2014283 . A G 1278.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.918;DP=73;Dels=0.00;FS=5.201;HRun=2;HaplotypeScore=1.8110;MQ=57.37;MQ0=0;MQRankSum=-0.782;QD=17.51;ReadPosRankSum=0.209;VQSLOD=3.2711;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,46:73:99:1308,0,603 16 2070200 2070200 G C exonic NPW nonsynonymous SNV NPW:NM_001099456:exon1:c.G298C:p.E100Q 0.093 0.057 0.13 . 0.23 0.074 0.1888 0.1136 0.1065 0.0012 0.2713 0.2593 0.2172 0.0888 0.15 0.073 0.18 0.087 0.09 rs11248906 COSM3749351 5(large_intestine) . . . . . . . . . . . 0.063 0.367 T 0.992 0.629 D 0.824 0.575 P 0.074 0.213 U 1.000 0.090 P 1.445 0.365 L 0.74 0.529 T -1.14 0.531 N 0.069 0.056 -1.085 0.065 T 0.000 0.000 T . . . 0.315 0.124 5.839 0.920 0.207 0.139 0.179 N c -0.408 -0.590 1.000 0.500 0.767 0.994 0 2.12 0.262 -0.179 0.097 0.845 0.345 0.002 0.151 0.038 0.155 6.177 0.195 . . . 0.1502 0.0774 0.0912 0.1844 0.0006 0.1980 0.2179 0.1764 0.0736 0.1687 0.0840 0.1136 0.2315 0.0006 0.2087 0.2274 0.1918 het 179.94 19 16 2070200 . G C 179.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.858;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.032;QD=9.47;ReadPosRankSum=0.041;VQSLOD=10.9710;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,8:19:99:210,0,215 16 2070568 2070568 A C exonic NPW nonsynonymous SNV NPW:NM_001099456:exon2:c.A446C:p.D149A 0.36 0.62 0.26 0.33 0.33 0.15 0.3041 0.6160 0.1706 0.3499 0.2782 0.3222 0.2968 0.1462 0.4 0.58 0.32 0.47 0.18 rs2286472 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.727 0.099 N 1 0.090 P 0 0.065 N 0.59 0.540 T -0.19 0.100 N 0.043 0.023 -0.927 0.446 T 0.000 0.000 T . . . -1.327 0.021 0.004 0.188 0.006 0.011 0.040 N c -1.984 -1.988 0.999 0.375 0.726 0.872 0 -0.235 0.124 -0.739 0.049 -1.302 0.014 0.000 0.063 0.001 0.043 2.156 0.035 . ENSG00000127561.10 Cells_Transformed_fibroblasts 0.2859 0.6051 0.1770 0.2846 0.3401 0.2647 0.3164 0.2863 0.1402 0.4009 0.6085 0.2134 0.3146 0.3489 0.2679 0.3354 0.3056 het 337.79 32 16 2070568 . A C 337.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.776;DP=32;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.944;QD=10.56;ReadPosRankSum=-0.151;VQSLOD=11.5163;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,15:32:99:368,0,388 16 2133726 2133726 C T exonic TSC2 nonsynonymous SNV TSC2:NM_001318831:exon29:c.C3182T:p.P1061L,TSC2:NM_001318827:exon30:c.C3605T:p.P1202L,TSC2:NM_001318829:exon30:c.C3569T:p.P1190L,TSC2:NM_001077183:exon31:c.C3713T:p.P1238L,TSC2:NM_001318832:exon31:c.C3746T:p.P1249L,TSC2:NM_001114382:exon32:c.C3845T:p.P1282L,TSC2:NM_000548:exon33:c.C3914T:p.P1305L 0.0092 0.033 0.0029 . . . 0.0046 0.0409 0.0035 0 0 0.0001 0 0.0001 0.0072 0.021 0.0002 . . rs45517320 COSM4985530;COSM4985529 1(soft_tissue) Likely benign|Likely benign|other|other|Benign not_provided|Tuberous_sclerosis_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome|Tuberous_sclerosis_2 RCV000034654.6|RCV000054866.2|RCV000118705.7|RCV000130814.2|RCV000234232.2 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:SNOMED_CT|MedGen:OMIM CN221809|C0041341:ORPHA805:7199000|CN169374|C0027672:699346009|C1860707:613254 . . . . . . 0.187 0.654 T 0.494 0.899 P 0.033 0.790 B 0.521 0.117 N 0.952 0.316 N 0.69 0.170 N -2.31 0.890 D -2.92 0.611 D 0.53 0.588 -0.404 0.719 T 0.405 0.755 T . . . 1.628 0.257 14.01 0.964 0.292 0.026 0.071 N c -0.924 -1.031 0.999 0.375 0.672 0.522 0 -0.89 0.100 0.288 0.186 0.834 0.340 0.000 0.063 0.032 0.149 4.912 0.131 . . . 0.0018 0.0263 0.0018 0 0 0 6.088e-05 0.0002 7.276e-05 0.0068 0.0236 0.0036 0 0 0 6.677e-05 0 het 393.47 25 16 2133726 . C T 393.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.582;DP=25;Dels=0.00;FS=1.685;HRun=0;HaplotypeScore=2.9810;MQ=58.24;MQ0=0;MQRankSum=-1.137;QD=15.74;ReadPosRankSum=-0.028;VQSLOD=4.0917;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,15:25:99:423,0,255 16 2140010 2140010 A G exonic PKD1 synonymous SNV PKD1:NM_000296:exon46:c.T12627C:p.P4209P,PKD1:NM_001009944:exon46:c.T12630C:p.P4210P 0.28 0.72 0.21 . 0.2 0.086 0.2011 0.6508 0.1139 0.0004 0.2394 0.1983 0.2079 0.0948 0.33 0.61 0.19 0.35 0.12 rs7203729 . . Benign not_specified RCV000253111.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1878 0.6524 0.1262 0.2514 0.0003 0.2235 0.1886 0.2020 0.0924 0.3086 0.6516 0.1396 0.2351 0.0006 0.2269 0.1804 0.1930 het 84.28 15 16 2140010 . A G 84.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.003;DP=15;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8245;MQ=60.00;MQ0=0;MQRankSum=0.386;QD=5.62;ReadPosRankSum=-0.849;VQSLOD=4.3761;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,4:15:99:114,0,297 16 2140454 2140454 T C exonic PKD1 synonymous SNV PKD1:NM_000296:exon45:c.A12273G:p.A4091A,PKD1:NM_001009944:exon45:c.A12276G:p.A4092A 0.28 0.72 0.21 . 0.2 0.09 0.1960 0.6400 0.1093 0.0004 0.2300 0.1917 0.1993 0.0979 0.33 0.6 0.19 0.32 0.098 rs3087632 . . Benign not_specified RCV000249439.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1860 0.6435 0.1243 0.2553 0.0002 0.2215 0.1835 0.2011 0.0965 0.3049 0.6474 0.1396 0.2450 0.0006 0.2225 0.1756 0.1935 het 574.33 33 16 2140454 . T C 574.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.478;DP=33;Dels=0.00;FS=3.477;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.168;QD=17.40;ReadPosRankSum=1.254;VQSLOD=5.5599;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,21:33:99:604,0,232 16 2140680 2140680 T C exonic PKD1 nonsynonymous SNV PKD1:NM_000296:exon44:c.A12130G:p.I4044V,PKD1:NM_001009944:exon44:c.A12133G:p.I4045V 0.25 0.63 0.2 . 0.2 0.085 0.1909 0.5805 0.1049 0.0004 0.2355 0.1922 0.1948 0.0928 0.31 0.56 0.19 0.25 0.18 rs10960 COSM3754777 1(large_intestine) Benign not_specified RCV000244151.1 MedGen CN169374 . . . . . . 0.333 0.130 T 0.001 0.090 B 0.003 0.093 B 0.048 0.233 N 1 0.090 P -0.98 0.012 N -0.37 0.689 T 0.0 0.070 N 0.02 0.005 -0.936 0.433 T 0.000 0.000 T . . . -1.736 0.012 0.002 0.530 0.048 0.013 0.044 N c -1.542 -1.531 1.000 0.467 0.726 0.872 0 -1.55 0.081 -0.239 0.089 -1.111 0.018 0.000 0.063 0.003 0.074 0.963 0.013 Polycystin cation channel\x2c PKD1/PKD2 ENSG00000260989.1 Prostate 0.1814 0.5838 0.1209 0.2547 0.0003 0.2215 0.1834 0.1980 0.0920 0.2889 0.5925 0.1337 0.2384 0.0006 0.2222 0.1755 0.1875 het 531.38 46 16 2140680 . T C 531.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.363;DP=46;Dels=0.00;FS=2.772;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.089;QD=11.55;ReadPosRankSum=-0.121;VQSLOD=5.9020;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,22:46:99:561,0,664 16 2160503 2160503 T G exonic PKD1 synonymous SNV PKD1:NM_000296:exon15:c.A4665C:p.A1555A,PKD1:NM_001009944:exon15:c.A4665C:p.A1555A 0.22 0.56 0.18 . 0.17 0.085 0.1687 0.5001 0.0965 0.0002 0.1912 0.1705 0.1761 0.0868 0.28 0.48 0.18 0.28 0.19 rs71385734 COSM1376565 2(breast);1(liver);1(large_intestine) Benign not_specified RCV000244819.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1633 0.5038 0.1105 0.2332 0.0002 0.1860 0.1675 0.1807 0.0877 0.2452 0.4952 0.1169 0.22 0.0019 0.1800 0.1544 0.1636 het 1067.99 113 16 2160503 . T G 1067.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.173;DP=113;Dels=0.00;FS=0.726;HRun=1;HaplotypeScore=2.5216;MQ=56.36;MQ0=0;MQRankSum=-0.789;QD=9.45;ReadPosRankSum=0.235;VQSLOD=2.6065;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,44:113:99:1098,0,1824 16 2162887 2162887 A G exonic PKD1 synonymous SNV PKD1:NM_000296:exon13:c.T3063C:p.G1021G,PKD1:NM_001009944:exon13:c.T3063C:p.G1021G 0.18 0.54 0.14 . 0.094 0.014 0.1105 0.4718 0.0730 0 0.0777 0.0995 0.1061 0.0271 0.23 0.46 0.11 0.16 0.13 rs2369068 . . Benign not_specified RCV000245978.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1042 0.4744 0.0809 0.1477 5.806e-05 0.0692 0.0992 0.1170 0.0294 0.1884 0.4632 0.0899 0.1358 0.0006 0.0690 0.0897 0.0951 het 1165.07 109 16 2162887 . A G 1165.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.644;DP=109;Dels=0.00;FS=5.111;HRun=1;HaplotypeScore=10.3014;MQ=58.51;MQ0=0;MQRankSum=-1.025;QD=10.69;ReadPosRankSum=-0.505;VQSLOD=2.4859;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,47:109:99:1195,0,1589 16 2222286 2222286 C T exonic TRAF7 synonymous SNV TRAF7:NM_032271:exon8:c.C570T:p.H190H 0.03 0.0038 0.066 . 0.08 0.021 0.0471 0.0140 0.0359 0 0.0249 0.0702 0.0352 0.0177 0.056 0.015 0.077 0.022 0.066 rs11547311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0465 0.0121 0.0375 0.0964 0 0.0223 0.0691 0.0610 0.0191 0.0370 0.0124 0.0383 0.0927 0 0.0221 0.0573 0.0429 het 485.18 52 16 2222286 . C T 485.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.367;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5157;MQ=58.47;MQ0=0;MQRankSum=1.393;QD=9.33;ReadPosRankSum=1.081;VQSLOD=3.8381;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,19:52:99:515,0,742 16 2259393 2259393 C G exonic BRICD5 synonymous SNV BRICD5:NM_182563:exon6:c.G657C:p.V219V 0.021 0.0023 0.05 . 0.049 0.02 0.0452 0.0093 0.0295 0.0001 0.0468 0.0641 0.0590 0.0249 0.047 0.014 0.063 0.033 0.049 rs1129185 COSM3754793;COSM3754792 1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0464 0.0087 0.0312 0.1194 0.0002 0.0479 0.0622 0.0538 0.0250 0.0405 0.0130 0.0346 0.0927 0 0.0367 0.0601 0.0542 het 726.33 69 16 2259393 . C G 726.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.002;DP=69;Dels=0.00;FS=0.950;HRun=0;HaplotypeScore=1.3670;MQ=59.12;MQ0=0;MQRankSum=-1.580;QD=10.53;ReadPosRankSum=0.055;VQSLOD=5.1605;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,27:69:99:756,0,1144 16 2260567 2260567 C T exonic BRICD5 nonsynonymous SNV BRICD5:NM_182563:exon2:c.G136A:p.V46I 0.52 0.5 0.48 0.6 0.47 0.52 0.5160 0.5092 0.5556 0.6348 0.5990 0.4875 0.5035 0.5116 0.48 0.5 0.47 0.38 0.36 rs26857 COSM329187;COSM3754794 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.679 0.094 T 0.004 0.112 B 0.002 0.133 B 0.252 0.155 N 1 0.090 P -0.255 0.038 N 1.87 0.325 T -0.73 0.238 N 0.07 0.186 -0.937 0.432 T 0.000 0.000 T . . . -1.519 0.016 0.002 0.410 0.029 0.099 0.154 N c -1.353 -1.285 1.000 0.517 0.495 0.175 0 1.17 0.199 0.094 0.148 -0.332 0.074 0.000 0.063 0.005 0.090 4.464 0.110 . ENSG00000182685.3|ENSG00000182685.3|ENSG00000182685.3|ENSG00000182685.3|ENSG00000182685.3|ENSG00000182685.3|ENSG00000182685.3|ENSG00000182685.3|ENSG00000182685.3|ENSG00000182685.3|ENSG00000182685.3|ENSG00000182685.3 Adipose_Subcutaneous|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Nerve_Tibial|Testis|Thyroid|Whole_Blood 0.5143 0.5071 0.5475 0.4208 0.6230 0.6002 0.4823 0.4910 0.5050 0.5270 0.5159 0.5467 0.4139 0.6130 0.5999 0.5077 0.5367 het 681.80 57 16 2260567 . C T 681.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.857;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9553;MQ=57.95;MQ0=0;MQRankSum=0.729;QD=11.96;ReadPosRankSum=1.301;VQSLOD=5.2808;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,29:57:99:712,0,772 16 2282256 2282256 G A exonic E4F1 nonsynonymous SNV E4F1:NM_001288776:exon4:c.G500A:p.R167H,E4F1:NM_001288778:exon4:c.G500A:p.R167H,E4F1:NM_004424:exon4:c.G500A:p.R167H 1. 1. 1. 1. 0.99 1. 0.9933 0.9977 0.9944 1 0.9974 0.9902 0.9955 0.9969 0.99 1. 0.99 0.78 0.56 rs26839 COSM4128818 1(thyroid) . . . . . . . . . . . 0.388 0.215 T 0.002 0.294 B 0.001 0.227 B 0.035 0.018 N 1 0.090 P -0.69 0.019 N 3.3 0.083 T 0.61 0.048 N 0.27 0.350 -0.971 0.370 T 0.000 0.000 T . . . -0.011 0.093 2.478 0.602 0.063 0.028 0.075 N c -1.795 -1.841 1.000 0.747 0.672 0.522 0 -6.01 0.020 -0.551 0.061 -1.327 0.013 0.000 0.063 0.000 0.016 8.465 0.319 . . . 0.9931 0.9979 0.9940 0.9962 1 0.9954 0.9893 0.9928 0.9968 0.9944 0.9984 0.9964 0.9967 1 0.9969 0.9903 1 hom 1656.26 53 16 2282256 . G A 1656.26 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=31.25;VQSLOD=8.8736;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:53:99:1689,147,0 16 2285357 2285357 C T exonic E4F1 synonymous SNV E4F1:NM_001288778:exon12:c.C1608T:p.I536I,E4F1:NM_004424:exon14:c.C2139T:p.I713I 0.31 0.073 0.32 0.4 0.4 0.43 0.3939 0.1165 0.2921 0.4187 0.4670 0.4271 0.4264 0.4476 0.31 0.11 0.41 0.16 0.3 rs26840 COSM3754797 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3875 0.1061 0.2885 0.3430 0.4087 0.4653 0.4261 0.3957 0.4443 0.3498 0.1127 0.3055 0.3278 0.4094 0.4590 0.4525 0.4468 het 1230.80 81 16 2285357 . C T 1230.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.606;DP=81;Dels=0.00;FS=9.013;HRun=1;HaplotypeScore=3.4379;MQ=59.25;MQ0=0;MQRankSum=-0.405;QD=15.20;ReadPosRankSum=0.598;VQSLOD=4.6582;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,44:81:99:1261,0,871 16 2331430 2331430 A G exonic ABCA3 synonymous SNV ABCA3:NM_001089:exon27:c.T4116C:p.S1372S 0.9 0.76 0.92 1. 0.92 0.96 0.9192 0.7780 0.9490 0.9999 0.9580 0.9128 0.9283 0.9546 0.87 0.78 0.92 0.84 0.67 rs149532 COSM4128822 1(thyroid) Benign not_specified RCV000150112.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9231 0.7770 0.9434 0.9081 0.9998 0.9586 0.9111 0.9118 0.9547 0.8837 0.7753 0.9390 0.8907 0.9994 0.9542 0.9123 0.9196 het 1462.30 103 16 2331430 . A G 1462.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.298;DP=103;Dels=0.00;FS=6.493;HRun=2;HaplotypeScore=2.8442;MQ=59.73;MQ0=0;MQRankSum=1.475;QD=14.20;ReadPosRankSum=1.072;VQSLOD=4.7464;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1492,0,1354 16 2812647 2812647 C T exonic SRRM2 synonymous SNV SRRM2:NM_016333:exon11:c.C2118T:p.S706S 0.17 0.2 0.13 0.26 0.17 0.092 0.1621 0.1934 0.1208 0.2771 0.1643 0.1666 0.1674 0.0916 0.17 0.19 0.16 0.15 0.12 rs2240142 COSM3754826 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1596 0.1913 0.1206 0.2415 0.2715 0.1671 0.1594 0.1606 0.0928 0.1656 0.1854 0.1208 0.2351 0.2673 0.1652 0.1459 0.1401 het 1435.36 130 16 2812647 . C T 1435.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.132;DP=130;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5712;MQ=58.48;MQ0=0;MQRankSum=0.356;QD=11.04;ReadPosRankSum=1.172;VQSLOD=5.7028;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,54:130:99:1465,0,2218 16 2812890 2812890 A G exonic SRRM2 synonymous SNV SRRM2:NM_016333:exon11:c.A2361G:p.K787K 0.67 0.63 0.85 0.45 0.82 0.69 0.7680 0.6769 0.8671 0.4338 0.7969 0.8189 0.7919 0.7120 0.78 0.68 0.83 0.65 0.86 rs2240141 COSM3999817 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7752 0.6731 0.8667 0.7389 0.4433 0.7994 0.8269 0.8032 0.7134 0.7713 0.6804 0.8474 0.7450 0.4814 0.8001 0.8413 0.8279 het 3115.89 250 16 2812890 . A G 3115.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.100;DP=250;DS;Dels=0.00;FS=2.178;HRun=0;HaplotypeScore=15.3890;MQ=59.06;MQ0=0;MQRankSum=0.818;QD=12.46;ReadPosRankSum=1.094;VQSLOD=2.2840;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:142,108:250:99:3146,0,4039 16 2812939 2812939 C A exonic SRRM2 nonsynonymous SNV SRRM2:NM_016333:exon11:c.C2410A:p.P804T 0.41 0.024 0.69 0.37 0.63 0.57 0.5481 0.1085 0.7491 0.3760 0.5538 0.5973 0.5661 0.5718 0.45 0.13 0.61 0.29 0.6 rs2240140 COSM3999818 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B 0.058 0.224 N 1 0.090 P 1.895 0.505 L 1.74 0.309 T -0.12 0.088 N 0.052 0.299 -0.957 0.397 T 0.000 0.000 T . . . -0.694 0.045 0.075 0.216 0.008 0.116 0.165 N c -0.894 -0.790 1.000 0.458 0.672 0.522 0 3.39 0.378 0.765 0.260 -0.046 0.123 0.016 0.191 0.978 0.483 4.361 0.106 . . . 0.5640 0.1017 0.7375 0.5292 0.3828 0.5479 0.6065 0.5848 0.5711 0.4483 0.1158 0.6950 0.5430 0.4169 0.5539 0.5958 0.5859 het 3061.32 250 16 2812939 . C A 3061.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.059;DP=250;DS;Dels=0.00;FS=1.550;HRun=2;HaplotypeScore=7.8346;MQ=59.56;MQ0=0;MQRankSum=1.241;QD=12.25;ReadPosRankSum=-0.549;VQSLOD=4.5805;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:3091,0,3926 16 2814162 2814162 G A exonic SRRM2 synonymous SNV SRRM2:NM_016333:exon11:c.G3633A:p.R1211R 0.65 0.62 0.83 0.42 0.77 0.68 0.7370 0.6603 0.8428 0.3994 0.7892 0.7775 0.7693 0.7012 0.74 0.67 0.78 0.62 0.81 rs3094775 COSM3999820 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7443 0.6576 0.8428 0.6923 0.4107 0.7926 0.7833 0.7667 0.7031 0.7454 0.6664 0.8218 0.7086 0.4481 0.7925 0.8051 0.8035 het 2833.13 220 16 2814162 . G A 2833.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.516;DP=220;Dels=0.00;FS=5.612;HRun=0;HaplotypeScore=5.6873;MQ=59.17;MQ0=0;MQRankSum=0.961;QD=12.88;ReadPosRankSum=-0.268;VQSLOD=4.9972;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,108:220:99:2863,0,3120 16 2815237 2815237 A C exonic SRRM2 synonymous SNV SRRM2:NM_016333:exon11:c.A4708C:p.R1570R 0.9 0.99 0.99 0.71 0.99 0.8 0.9429 0.9903 0.9914 0.7120 0.9608 0.9854 0.9581 0.8200 0.99 0.99 0.99 0.87 0.95 rs3094773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9459 0.9909 0.9915 0.9803 0.7176 0.9665 0.9866 0.9694 0.8241 0.9725 0.9897 0.9797 0.9834 0.7556 0.9654 0.9873 0.9674 hom 3299.49 102 16 2815237 . A C 3299.49 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4105;MQ=59.18;MQ0=0;QD=32.35;VQSLOD=9.8168;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3299,271,0 16 2821573 2821573 C T exonic ELOB nonsynonymous SNV ELOB:NM_207013:exon5:c.G386A:p.S129N 0.41 0.23 0.55 0.36 0.52 0.52 0.4820 0.2769 0.5298 0.3340 0.4339 0.5206 0.5144 0.5167 0.45 0.29 0.53 0.29 0.56 rs8017 COSM3754828 1(bone);4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.191 0.210 T 0.118 0.250 B 0.023 0.188 B . . . 1 0.090 P . . . . . . -0.19 0.100 N 0.001 0.000 -0.933 0.437 T 0.000 0.000 T . . . 1.238 0.214 11.95 0.923 0.211 0.097 0.152 N c -1.052 -1.092 1.000 0.747 0.672 0.522 0 1.03 0.191 -0.547 0.061 0.737 0.307 0.000 0.063 0.005 0.090 3.672 0.078 . . . 0.4899 0.2737 0.5415 0.5077 0.3393 0.4346 0.5278 0.5303 0.5151 0.4358 0.2677 0.4976 0.5397 0.3710 0.4378 0.5317 0.4837 hom 3485.85 116 16 2821573 . C T 3485.85 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0388;MQ=59.26;MQ0=0;QD=30.05;VQSLOD=7.0922;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3485,280,0 16 2867450 2867450 G C exonic PRSS21 synonymous SNV PRSS21:NM_001270452:exon2:c.G84C:p.P28P,PRSS21:NM_006799:exon2:c.G84C:p.P28P,PRSS21:NM_144956:exon2:c.G84C:p.P28P,PRSS21:NM_144957:exon2:c.G84C:p.P28P 0.47 0.57 0.54 0.27 0.51 0.44 0.5022 0.5918 0.5348 0.3347 0.4550 0.5216 0.5032 0.4675 0.46 0.49 0.44 . 0.14 rs71386691 COSM3754831 3(thyroid);6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4778 0.5584 0.5345 0.5752 0.3091 0.3864 0.4896 0.4990 0.4441 0.4778 0.5584 0.5099 0.6149 0.2939 0.4047 0.4660 0.4463 het 106.55 11 16 2867450 . G C 106.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8656;MQ=57.87;MQ0=0;MQRankSum=-1.031;QD=9.69;ReadPosRankSum=-0.466;VQSLOD=3.8920;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:137,0,100 16 2871555 2871555 G A exonic PRSS21 synonymous SNV PRSS21:NM_006799:exon6:c.G894A:p.P298P,PRSS21:NM_144956:exon6:c.G888A:p.P296P,PRSS21:NM_144957:exon6:c.G852A:p.P284P 0.67 0.7 0.63 0.67 0.68 0.64 0.6767 0.7046 0.5874 0.6803 0.6670 0.6881 0.6678 0.6777 0.7 0.71 0.69 0.61 0.62 rs10641 COSM3765878 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6724 0.7018 0.5958 0.7266 0.6768 0.6621 0.6862 0.6798 0.6779 0.6919 0.7088 0.5883 0.7980 0.6989 0.6731 0.6900 0.6833 het 966.02 86 16 2871555 . G A 966.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.152;DP=86;Dels=0.00;FS=9.827;HRun=0;HaplotypeScore=1.9889;MQ=58.18;MQ0=0;MQRankSum=-0.375;QD=11.23;ReadPosRankSum=0.023;VQSLOD=4.5548;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,36:86:99:996,0,1301 16 2983516 2983516 C T exonic FLYWCH1 synonymous SNV FLYWCH1:NM_001308068:exon5:c.C1182T:p.V394V,FLYWCH1:NM_020912:exon5:c.C1179T:p.V393V,FLYWCH1:NM_032296:exon5:c.C1179T:p.V393V 0.038 0.033 0.068 0.001 0.068 0.033 0.0580 0.0420 0.0488 0.0001 0.0727 0.0711 0.0838 0.0460 0.055 0.034 0.065 0.022 . rs61747747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0502 0.0355 0.0400 0.0643 0.0005 0.0526 0.0638 0.0640 0.0394 0.0506 0.0386 0.0418 0.0728 0 0.0447 0.0640 0.0592 het 388.18 27 16 2983516 . C T 388.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.850;DP=27;Dels=0.00;FS=5.988;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.913;QD=14.38;ReadPosRankSum=0.666;VQSLOD=5.1303;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,16:27:99:418,0,269 16 2987315 2987315 G A exonic FLYWCH1 synonymous SNV FLYWCH1:NM_001308068:exon7:c.G1707A:p.P569P,FLYWCH1:NM_020912:exon7:c.G1704A:p.P568P,FLYWCH1:NM_032296:exon7:c.G1704A:p.P568P 0.03 0.0038 0.065 0.001 0.07 0.032 0.0623 0.0172 0.0525 0.0002 0.0814 0.0786 0.0989 0.0515 0.051 0.013 0.068 0.022 . rs61747749 COSM3754841;COSM3754840 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0499 0.0113 0.0390 0.0676 0.0005 0.0532 0.0659 0.0652 0.0419 0.0439 0.0128 0.0406 0.07 0 0.0442 0.0652 0.0612 het 126.02 15 16 2987315 . G A 126.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.298;DP=15;Dels=0.00;FS=4.832;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;MQRankSum=0.530;QD=8.40;ReadPosRankSum=0.648;VQSLOD=4.5558;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,6:15:99:156,0,254 16 3019781 3019781 - C exonic PAQR4 frameshift insertion PAQR4:NM_001284511:exon1:c.107dupC:p.C38Lfs*157,PAQR4:NM_001284512:exon1:c.107dupC:p.C38Lfs*122,PAQR4:NM_001324118:exon1:c.107dupC:p.C38Lfs*181,PAQR4:NM_152341:exon1:c.107dupC:p.C38Lfs*196 . . . . . . . . . . . . . . . . . . . rs144682481 COSM1724603 1(kidney);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 184.72 28 16 3019781 . T TC 184.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.929;DP=28;FS=26.946;HRun=1;HaplotypeScore=161.8037;MQ=60.12;MQ0=0;MQRankSum=0.600;QD=6.60;ReadPosRankSum=-2.637;set=variant2 GT:AD:DP:GQ:PL 0/1:13,15:28:99:224,0,120 16 3063585 3063585 G A exonic CLDN9 synonymous SNV CLDN9:NM_020982:exon1:c.G222A:p.P74P 0.0048 0.0008 0.0058 0.001 0.0089 0.0092 0.0065 0.0010 0.0069 0.0015 0.0205 0.0057 0.0077 0.0100 0.0033 0.0014 0.0043 . . rs151129127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0070 0.0009 0.0059 0.0086 0.0017 0.0195 0.0053 0.0093 0.0105 0.0054 0.0008 0.0036 0.0199 0 0.0186 0.0055 0.0031 het 1940.41 117 16 3063585 . G A 1940.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.986;DP=117;Dels=0.00;FS=3.379;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=-0.620;QD=16.58;ReadPosRankSum=1.309;VQSLOD=4.1415;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,67:117:99:1970,0,1321 16 3065924 3065924 G A exonic CLDN6 synonymous SNV CLDN6:NM_021195:exon2:c.C99T:p.T33T 0.23 0.14 0.16 0.4 0.2 0.26 0.2188 0.1482 0.1920 0.3780 0.2659 0.1993 0.2219 0.2586 0.17 0.14 0.19 0.16 0.18 rs2269911 COSM148007 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2188 0.1468 0.1865 0.1564 0.3826 0.2588 0.1988 0.2068 0.2632 0.2099 0.1477 0.1986 0.2 0.3981 0.2681 0.2105 0.2480 het 1695.93 101 16 3065924 . G A 1695.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.510;DP=101;Dels=0.00;FS=5.384;HRun=0;HaplotypeScore=1.7608;MQ=58.46;MQ0=0;MQRankSum=1.411;QD=16.79;ReadPosRankSum=-0.573;VQSLOD=4.6583;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,58:101:99:1726,0,1057 16 3073240 3073240 G T exonic HCFC1R1 nonsynonymous SNV HCFC1R1:NM_001002017:exon2:c.C218A:p.P73Q,HCFC1R1:NM_001288667:exon2:c.C269A:p.P90Q,HCFC1R1:NM_001288666:exon3:c.C218A:p.P73Q,HCFC1R1:NM_001288668:exon3:c.C86A:p.P29Q,HCFC1R1:NM_001308070:exon3:c.C155A:p.P52Q,HCFC1R1:NM_017885:exon3:c.C275A:p.P92Q,HCFC1R1:NM_001002018:exon4:c.C275A:p.P92Q,HCFC1R1:NM_001288665:exon4:c.C275A:p.P92Q 0.19 0.14 0.19 0.12 0.24 0.29 0.2240 0.1367 0.1958 0.1139 0.2830 0.2386 0.2362 0.3065 0.2 0.14 0.23 0.17 0.16 rs10508 COSM1478796;COSM435123 1(large_intestine) . . . . . . . . . . . 0.046 0.405 D 0.571 0.367 P 0.183 0.343 B 0.667 0.060 N 0.013 0.405 P 1.445 0.365 L 0.91 0.449 T -3.1 0.635 D 0.121 0.327 -1.048 0.151 T 0.000 0.000 T . . . 1.310 0.222 12.32 0.870 0.164 0.130 0.174 N c -0.215 -0.097 1.000 0.747 0.726 0.872 0 3.14 0.350 1.942 0.396 1.048 0.713 0.948 0.327 0.983 0.502 7.493 0.265 . ENSG00000126602.6|ENSG00000205890.3|ENSG00000162069.10 Esophagus_Mucosa|Testis|Whole_Blood 0.2220 0.1311 0.1981 0.1799 0.1142 0.2767 0.2361 0.2273 0.2962 0.2091 0.1321 0.2100 0.2020 0.1048 0.2792 0.2454 0.2654 het 789.25 44 16 3073240 . G T 789.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DP=44;Dels=0.00;FS=2.751;HRun=1;HaplotypeScore=0.7340;MQ=58.62;MQ0=0;MQRankSum=0.530;QD=17.94;ReadPosRankSum=-0.892;VQSLOD=5.2806;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,27:44:99:819,0,416 16 3100342 3100342 G A exonic MMP25 synonymous SNV MMP25:NM_022468:exon4:c.G456A:p.E152E 0.0038 . 0.0014 . 0.0099 0.0082 0.0053 0.0003 0.0044 0.0006 0.0204 0.0043 0.0077 0.0092 0.0025 0.0005 0.0035 . . rs141989362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0055 0.0001 0.0030 0.0126 0.0009 0.0193 0.0031 0.0078 0.0097 0.0041 0.0001 0.0024 0.0232 0.0006 0.0186 0.0033 0.0020 het 863.87 56 16 3100342 . G A 863.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.790;DP=56;Dels=0.00;FS=3.943;HRun=1;HaplotypeScore=1.6553;MQ=59.59;MQ0=0;MQRankSum=0.041;QD=15.43;ReadPosRankSum=-0.770;VQSLOD=4.5920;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,32:56:99:894,0,724 16 3119297 3119297 - G exonic IL32 frameshift insertion IL32:NM_001012636:exon5:c.482dupG:p.D163Gfs*11,IL32:NM_001012634:exon6:c.449dupG:p.D152Gfs*11,IL32:NM_001012635:exon6:c.449dupG:p.D152Gfs*11,IL32:NM_001308078:exon6:c.647dupG:p.D218Gfs*11,IL32:NM_001012632:exon7:c.509dupG:p.D172Gfs*11,IL32:NM_001012718:exon7:c.509dupG:p.D172Gfs*11,IL32:NM_004221:exon7:c.509dupG:p.D172Gfs*11,IL32:NM_001012631:exon8:c.509dupG:p.D172Gfs*11,IL32:NM_001012633:exon8:c.338dupG:p.D115Gfs*11 . . . . . . 0.4124 0.2666 0.3488 0.3920 0.4403 0.4403 0.4161 0.4353 . . . . . rs71818662 COSM166086 1(breast);1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(pancreas);16(upper_aerodigestive_tract);1(thymus);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4028 0.2297 0.3373 0.4299 0.3663 0.4342 0.4345 0.4170 0.4270 0.2464 0.1184 0.2296 0.3173 0.2562 0.3054 0.3131 0.2622 het 1237.96 192 16 3119297 . C CG 1237.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.553;DP=192;FS=1.349;HRun=6;HaplotypeScore=613.4101;MQ=55.06;MQ0=1;MQRankSum=-2.477;QD=6.38;ReadPosRankSum=0.985;set=variant2 GT:AD:DP:GQ:PL 0/1:149,45:192:99:1277,0,3377 16 3170188 3170188 C T exonic ZNF205 synonymous SNV ZNF205:NM_001042428:exon7:c.C1527T:p.C509C,ZNF205:NM_001278158:exon7:c.C1527T:p.C509C,ZNF205:NM_003456:exon7:c.C1527T:p.C509C 0.38 0.29 0.45 0.44 0.41 0.39 0.4133 0.3029 0.5019 0.4740 0.4743 0.3976 0.4412 0.4242 0.35 0.29 0.39 0.32 0.38 rs12032 COSM3724261 1(urinary_tract);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4165 0.2981 0.4909 0.4074 0.4815 0.4729 0.3877 0.4133 0.4239 0.3864 0.3035 0.5155 0.4636 0.4740 0.4785 0.3916 0.4366 het 1773.49 105 16 3170188 . C T 1773.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.542;DP=105;Dels=0.00;FS=3.159;HRun=0;HaplotypeScore=1.9970;MQ=59.64;MQ0=0;MQRankSum=0.883;QD=16.89;ReadPosRankSum=-1.137;VQSLOD=5.2549;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,62:105:99:1803,0,1041 16 3254470 3254470 T C exonic OR1F1 nonsynonymous SNV OR1F1:NM_012360:exon1:c.T224C:p.F75S 0.43 0.27 0.52 0.57 0.43 0.45 0.4617 0.3021 0.6351 0.5880 0.3967 0.4493 0.4637 0.4503 0.4 0.31 0.44 0.37 0.42 rs1834026 COSM4999985 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.398 N 0.999 0.212 P -3.23 0.000 N 7.62 0.004 T 5.17 0.000 N 0.052 0.034 -1.044 0.160 T 0.000 0.000 T . . . 0.039 0.097 2.969 0.657 0.076 0.008 0.032 N c -1.349 -1.045 0.001 0.078 0.549 0.223 0 4.3 0.504 1.487 0.349 -0.088 0.118 0.002 0.151 0.940 0.414 9.205 0.363 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000103313.7|ENSG00000103313.7|ENSG00000010539.7 Testis|Whole_Blood|Whole_Blood 0.4712 0.2973 0.6325 0.4656 0.5939 0.4076 0.4460 0.4635 0.4532 0.4125 0.2956 0.6026 0.4305 0.5934 0.4176 0.4483 0.4223 het 4468.46 249 16 3254470 . T C 4468.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.528;DP=249;DS;Dels=0.00;FS=2.925;HRun=1;HaplotypeScore=9.8479;MQ=59.01;MQ0=0;MQRankSum=-0.450;QD=17.95;ReadPosRankSum=-1.522;VQSLOD=3.1215;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,137:249:99:3799,0,3145 16 3254972 3254972 T C exonic OR1F1 synonymous SNV OR1F1:NM_012360:exon1:c.T726C:p.G242G 0.39 0.12 0.51 0.57 0.43 0.45 0.4489 0.1720 0.6276 0.5880 0.3966 0.4478 0.4537 0.4504 0.35 0.19 0.44 0.29 0.39 rs2075851 COSM5445682 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4611 0.1666 0.6247 0.4654 0.5946 0.4072 0.4444 0.4579 0.4530 0.3767 0.1741 0.5945 0.4272 0.5941 0.4171 0.4464 0.4119 het 3188.73 227 16 3254972 . T C 3188.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.834;DP=227;Dels=0.00;FS=3.795;HRun=0;HaplotypeScore=2.7254;MQ=59.71;MQ0=0;MQRankSum=0.151;QD=14.05;ReadPosRankSum=0.941;VQSLOD=6.1405;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:106,121:227:99:3219,0,2707 16 3293888 3293888 C T exonic MEFV nonsynonymous SNV MEFV:NM_001198536:exon8:c.G1306A:p.G436R 0.35 0.33 0.37 0.4 0.44 0.24 0.3967 0.3415 0.2552 0.3838 0.4362 0.4578 0.4206 0.2715 0.42 0.34 0.47 0.41 0.47 rs1231122 COSM3754867;COSM3754866 1(large_intestine) Benign\x2cBenign|Benign not_specified\x2cFamilial_Mediterranean_fever|not_specified RCV000126738.1\x2cRCV000030177.2|RCV000266471.1 MedGen\x2cMedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374\x2cC0031069:249100:ORPHA342:12579009|CN169374 . . . . . . 1.0 0.010 T . . . . . . . . . 1 0.090 P . . . -0.16 0.654 T 1.73 0.006 N . . -0.947 0.415 T 0.000 0.000 T . . . 0.846 0.175 9.743 0.281 0.014 0.002 0.013 N c -0.849 -0.969 0.960 0.284 0.497 0.185 0 -0.232 0.124 -0.206 0.093 -0.296 0.082 0.000 0.063 0.747 0.321 0.975 0.013 . ENSG00000103313.7|ENSG00000103313.7|ENSG00000103313.7|ENSG00000010539.7 Lung|Testis|Whole_Blood|Whole_Blood 0.3912 0.3391 0.2606 0.4449 0.3784 0.4299 0.4588 0.4211 0.2718 0.4125 0.3325 0.2943 0.4404 0.3889 0.4224 0.4627 0.4531 het 583.27 51 16 3293888 . C T 583.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.395;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=59.14;MQ0=0;MQRankSum=1.588;QD=11.44;ReadPosRankSum=0.732;VQSLOD=6.4232;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,22:51:99:613,0,765 16 3293922 3293922 A T exonic MEFV nonsynonymous SNV MEFV:NM_001198536:exon8:c.T1272A:p.D424E 0.31 0.28 0.36 0.28 0.44 0.22 0.3949 0.3163 0.2705 0.2943 0.4478 0.4651 0.4225 0.2671 0.41 0.3 0.46 0.33 0.43 rs1231123 . . . . . . . . . . . . . 0.039 0.424 D . . . . . . . . . 1 0.090 P . . . 0.04 0.621 T 0.2 0.049 N 0.044 0.026 -0.944 0.420 T 0.000 0.000 T . . . -0.075 0.087 1.921 0.982 0.386 0.091 0.147 N c -1.127 -1.228 0.970 0.291 0.497 0.185 0 -1.4 0.085 -0.036 0.120 -0.983 0.023 0.000 0.063 0.000 0.016 1.615 0.025 . ENSG00000103313.7|ENSG00000103313.7|ENSG00000103313.7|ENSG00000010539.7 Lung|Testis|Whole_Blood|Whole_Blood 0.3745 0.2953 0.2527 0.4253 0.2728 0.4284 0.4540 0.4084 0.2563 0.3936 0.2923 0.2895 0.4205 0.2817 0.4225 0.4597 0.4458 het 251.70 33 16 3293922 . A T 251.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.767;DP=33;Dels=0.00;FS=1.533;HRun=1;HaplotypeScore=3.8855;MQ=58.67;MQ0=0;MQRankSum=-0.430;QD=7.63;ReadPosRankSum=0.879;VQSLOD=5.1392;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,12:33:99:282,0,523 16 3297073 3297073 A G exonic MEFV synonymous SNV MEFV:NM_001198536:exon4:c.T897C:p.D299D,MEFV:NM_000243:exon5:c.T1530C:p.D510D 0.66 0.69 0.63 0.65 0.56 0.77 0.6104 0.6864 0.7506 0.6519 0.5668 0.5436 0.5817 0.7317 0.58 0.68 0.53 0.62 0.51 rs224206 . . other|Benign Familial_Mediterranean_fever|not_specified RCV000030175.2|RCV000254381.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0031069:249100:ORPHA342:12579009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6121 0.6846 0.7403 0.5451 0.6551 0.5687 0.5409 0.5822 0.7284 0.5953 0.6919 0.7076 0.5530 0.6338 0.5765 0.5370 0.5469 het 4120.50 250 16 3297073 . A G 4120.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.333;DP=250;DS;Dels=0.00;FS=3.551;HRun=0;HaplotypeScore=3.6465;MQ=59.56;MQ0=0;MQRankSum=-0.307;QD=16.48;ReadPosRankSum=1.440;VQSLOD=5.0352;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:120,129:250:99:3427,0,3471 16 3297175 3297175 T C exonic MEFV synonymous SNV MEFV:NM_001198536:exon4:c.A795G:p.Q265Q,MEFV:NM_000243:exon5:c.A1428G:p.Q476Q 0.65 0.65 0.62 0.65 0.56 0.76 0.6057 0.6442 0.7479 0.6527 0.5667 0.5421 0.5804 0.7312 0.57 0.64 0.53 0.59 0.5 rs224207 . . Benign|Likely benign not_specified|Familial_Mediterranean_fever RCV000244842.1|RCV000399975.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0031069:249100:ORPHA342:12579009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6082 0.6420 0.7370 0.5445 0.6573 0.5682 0.5393 0.5784 0.7280 0.5804 0.6487 0.6990 0.5537 0.6314 0.5760 0.5324 0.5462 het 3214.20 243 16 3297175 . T C 3214.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.214;DP=243;DS;Dels=0.00;FS=4.672;HRun=1;HaplotypeScore=2.6971;MQ=59.16;MQ0=0;MQRankSum=-0.966;QD=13.23;ReadPosRankSum=-1.732;VQSLOD=4.7144;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,113:243:99:3244,0,3630 16 3297181 3297181 C T exonic MEFV synonymous SNV MEFV:NM_001198536:exon4:c.G789A:p.E263E,MEFV:NM_000243:exon5:c.G1422A:p.E474E 0.64 0.64 0.62 0.61 0.56 0.76 0.6027 0.6387 0.7478 0.6185 0.5667 0.5420 0.5782 0.7308 0.57 0.63 0.53 0.58 0.49 rs224208 . . other|Benign Familial_Mediterranean_fever|not_specified RCV000030172.2|RCV000253062.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0031069:249100:ORPHA342:12579009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6051 0.6360 0.7367 0.5445 0.6222 0.5682 0.5391 0.5758 0.7276 0.5772 0.6423 0.6983 0.55 0.6070 0.5761 0.5323 0.5451 het 2829.18 232 16 3297181 . C T 2829.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.717;DP=232;DS;Dels=0.00;FS=5.822;HRun=1;HaplotypeScore=2.5301;MQ=59.29;MQ0=0;MQRankSum=-0.829;QD=12.19;ReadPosRankSum=-1.456;VQSLOD=4.5959;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,105:232:99:2859,0,3653 16 3299749 3299749 G A exonic MEFV synonymous SNV MEFV:NM_001198536:exon2:c.C309T:p.R103R,MEFV:NM_000243:exon3:c.C942T:p.R314R 0.69 0.73 0.64 0.71 0.56 0.79 0.6283 0.7181 0.7589 0.7168 0.5936 0.5543 0.6066 0.7455 0.6 0.71 0.54 0.7 0.52 rs224213 COSM3754869;COSM3754868 1(bone);1(thyroid);1(large_intestine) other|Benign Familial_Mediterranean_fever|not_specified RCV000030188.2|RCV000243663.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0031069:249100:ORPHA342:12579009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6281 0.7143 0.7485 0.5722 0.7206 0.5826 0.5478 0.5961 0.7424 0.6166 0.7182 0.7105 0.5967 0.7144 0.5881 0.5519 0.5665 het 625.56 44 16 3299749 . G A 625.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.009;DP=44;Dels=0.00;FS=2.652;HRun=1;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=-1.279;QD=14.22;ReadPosRankSum=0.118;VQSLOD=5.6777;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,25:44:99:656,0,483 16 3304573 3304573 G T exonic MEFV synonymous SNV MEFV:NM_000243:exon2:c.C495A:p.A165A 0.39 0.53 0.6 0.17 0.47 0.18 0.4907 0.5664 0.6768 0.2677 0.5922 0.5589 0.4790 0.2297 0.47 0.49 0.45 0.41 0.074 rs224223 COSM1128970 1(prostate);1(thyroid);14(large_intestine) other|Benign Familial_Mediterranean_fever|not_specified RCV000030184.2|RCV000242316.2 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0031069:249100:ORPHA342:12579009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4294 0.4951 0.6116 0.4007 0.1670 0.5033 0.4746 0.4411 0.1914 0.4783 0.5051 0.6136 0.4503 0.1648 0.5109 0.4829 0.4662 hom 544.03 18 16 3304573 . G T 544.03 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.22;VQSLOD=13.0738;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:48.13:577,48,0 16 3304654 3304654 T C exonic MEFV synonymous SNV MEFV:NM_000243:exon2:c.A414G:p.G138G 0.39 0.53 0.59 0.16 0.47 0.2 0.4375 0.5120 0.6191 0.1634 0.5302 0.4853 0.4169 0.2016 0.47 0.49 0.45 0.28 0.21 rs224224 COSM3754870 1(thyroid);1(upper_aerodigestive_tract);3(large_intestine) other|Benign Familial_Mediterranean_fever|not_specified RCV000030183.2|RCV000126740.3 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0031069:249100:ORPHA342:12579009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4401 0.5071 0.6145 0.4007 0.1638 0.5143 0.4791 0.4519 0.2001 0.4790 0.5056 0.6146 0.4533 0.1599 0.5109 0.4847 0.4622 hom 1027.88 32 16 3304654 . T C 1027.88 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.12;VQSLOD=13.4879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:84.24:1061,84,0 16 3304762 3304762 A G exonic MEFV synonymous SNV MEFV:NM_000243:exon2:c.T306C:p.D102D 0.39 0.53 0.59 0.16 0.47 0.21 0.4382 0.5094 0.6166 0.1601 0.5272 0.4812 0.4071 0.2154 0.48 0.5 0.46 0.4 0.47 rs224225 COSM435205 3(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign Familial_Mediterranean_fever|not_specified RCV000030182.2|RCV000242621.2 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0031069:249100:ORPHA342:12579009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4440 0.5085 0.6158 0.4015 0.1640 0.5143 0.4804 0.4560 0.2149 0.4794 0.5074 0.6158 0.4503 0.1595 0.5103 0.4843 0.4663 hom 3855.07 133 16 3304762 . A G 3855.07 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.60;MQ0=0;QD=28.99;VQSLOD=8.7889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3854,307,0 16 3406387 3406387 C G exonic OR2C1 nonsynonymous SNV OR2C1:NM_012368:exon1:c.C447G:p.C149W 1. 0.99 1. 1. 1. 1. 0.9993 0.9929 0.9994 1 1 1 1 1 1. 0.99 1. 0.97 1. rs1218763 COSM4129046 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.037 0.245 N 0.006 0.423 P -2.78 0.000 N 2.21 0.184 T 12.8 0.000 N 0.125 0.141 -0.991 0.324 T 0.000 0.000 T . . . -0.381 0.063 0.429 0.491 0.041 0.100 0.154 N c -1.207 -0.915 0.431 0.204 0.487 0.133 0 3.67 0.411 2.148 0.416 0.074 0.181 0.986 0.359 0.306 0.238 9.491 0.379 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9995 0.9931 0.9995 1 1 1 1 0.9998 1 0.9985 0.9947 1 1 1 1 1 1 hom 3864.58 116 16 3406387 . C G 3864.58 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4973;MQ=59.22;MQ0=0;QD=33.32;VQSLOD=8.5418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3864,301,0 16 3432993 3432993 G C exonic ZSCAN32 nonsynonymous SNV ZSCAN32:NM_001284529:exon3:c.C1086G:p.H362Q,ZSCAN32:NM_001284528:exon4:c.C1086G:p.H362Q,ZSCAN32:NM_001324345:exon5:c.C1317G:p.H439Q,ZSCAN32:NM_001324346:exon5:c.C1734G:p.H578Q,ZSCAN32:NM_001324341:exon6:c.C1317G:p.H439Q,ZSCAN32:NM_001324342:exon6:c.C1317G:p.H439Q,ZSCAN32:NM_001324343:exon6:c.C1554G:p.H518Q,ZSCAN32:NM_001324344:exon6:c.C1317G:p.H439Q,ZSCAN32:NM_017810:exon6:c.C1317G:p.H439Q,ZSCAN32:NM_001284527:exon7:c.C1953G:p.H651Q,ZSCAN32:NM_001324340:exon7:c.C1317G:p.H439Q . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.048 0.400 D 0.993 0.899 D 0.886 0.850 P . . . 0.999 0.227 N 3.41 0.920 M -2.18 0.867 D -6.43 0.916 D 0.412 0.470 0.016 0.826 D 0.807 0.935 D 0.012 0.299 T 4.438 0.594 24.2 0.956 0.268 0.000 0.002 N c -0.058 -0.343 0.019 0.132 0.707 0.730 0 -0.52 0.113 -0.086 0.111 -0.447 0.056 0.014 0.188 0.930 0.404 2.933 0.054 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . . . . . . . . . . . . . . . . . . het 1416.95 75 16 3432993 . G C 1416.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.347;DP=75;Dels=0.00;FS=3.494;HRun=0;HaplotypeScore=4.8786;MQ=59.69;MQ0=0;MQRankSum=0.584;QD=18.89;ReadPosRankSum=1.606;VQSLOD=2.3981;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,47:75:99:1447,0,765 16 3533577 3533577 C G exonic NAA60 synonymous SNV NAA60:NM_001317095:exon4:c.C357G:p.G119G,NAA60:NM_001083600:exon5:c.C552G:p.G184G,NAA60:NM_001317093:exon5:c.C573G:p.G191G,NAA60:NM_024845:exon5:c.C552G:p.G184G,NAA60:NM_001083601:exon6:c.C552G:p.G184G 0.72 0.77 0.69 0.74 0.67 0.68 0.6935 0.7587 0.6952 0.7562 0.7099 0.6800 0.6592 0.6704 0.71 0.77 0.68 0.7 . rs1137454 COSM4414933 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6937 0.7590 0.6960 0.6928 0.7653 0.7049 0.6789 0.6908 0.6648 0.7153 0.7527 0.7148 0.7086 0.7695 0.7145 0.6902 0.6810 hom 2213.58 76 16 3533577 . C G 2213.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.241;DP=76;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.8549;MQ=59.10;MQ0=0;MQRankSum=-0.453;QD=29.13;ReadPosRankSum=-0.560;VQSLOD=5.7942;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:3,73:76:99:2247,119,0 16 3724465 3724465 G C exonic TRAP1 nonsynonymous SNV TRAP1:NM_001272049:exon8:c.C760G:p.R254G,TRAP1:NM_016292:exon9:c.C919G:p.R307G 0.39 0.11 0.45 0.56 0.44 0.52 0.4372 0.1374 0.4719 0.5347 0.5132 0.4375 0.4548 0.5168 0.33 0.15 0.43 0.21 0.41 rs13926 . . Benign not_specified RCV000247229.1 MedGen CN169374 . . . . . . 0.344 0.150 T 0.0 0.026 B 0.0 0.013 B 0.006 0.322 N 1 0.090 P -1.1 0.010 N 2.33 0.165 T -0.02 0.073 N 0.046 0.130 -0.927 0.446 T 0.000 0.000 T . . . -0.065 0.088 2.003 0.610 0.064 0.063 0.121 N c -1.749 -1.685 0.009 0.118 0.713 0.817 0 -1.77 0.075 0.015 0.131 -1.407 0.012 0.003 0.159 0.000 0.016 13.485 0.607 Heat shock protein Hsp90\x2c N-terminal|Histidine kinase-like ATPase\x2c C-terminal domain;Ribosomal protein S5 domain 2-type fold ENSG00000126602.6|ENSG00000103351.8|ENSG00000178430.4|ENSG00000126602.6|ENSG00000178430.4|ENSG00000126602.6|ENSG00000126602.6|ENSG00000178430.4|ENSG00000126602.6|ENSG00000126602.6|ENSG00000126602.6|ENSG00000126602.6|ENSG00000126602.6|ENSG00000178430.4|ENSG00000126602.6|ENSG00000178430.4|ENSG00000103351.8|ENSG00000263235.1|ENSG00000126602.6|ENSG00000103351.8|ENSG00000126602.6|ENSG00000126602.6|ENSG00000103351.8|ENSG00000263235.1|ENSG00000126602.6|ENSG00000126602.6|ENSG00000103351.8|ENSG00000126602.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.4452 0.1368 0.4731 0.4822 0.5411 0.5167 0.4280 0.4372 0.5148 0.3618 0.1379 0.4284 0.4868 0.5385 0.5163 0.4248 0.4529 hom 2259.02 75 16 3724465 . G C 2259.02 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=30.12;VQSLOD=8.3282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2292,196,0 16 4016676 4016676 A G exonic ADCY9 synonymous SNV ADCY9:NM_001116:exon11:c.T3162C:p.H1054H 0.73 0.65 0.84 0.83 0.85 0.54 0.8052 0.6853 0.8652 0.8450 0.8360 0.8589 0.8084 0.5887 0.8 0.69 0.86 0.86 0.8 rs2230742 COSM4129058 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8093 0.6765 0.8695 0.8621 0.8449 0.8320 0.8537 0.8363 0.5902 0.8034 0.6878 0.8663 0.8444 0.8482 0.8311 0.8550 0.8006 hom 7891.43 247 16 4016676 . A G 7891.43 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4685;MQ=59.40;MQ0=0;QD=31.95;VQSLOD=8.5856;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:7890,668,0 16 4027605 4027605 C T exonic ADCY9 synonymous SNV ADCY9:NM_001116:exon9:c.G2706A:p.A902A 0.47 0.14 0.65 0.52 0.75 0.43 0.6526 0.2276 0.6749 0.5270 0.7415 0.7571 0.6786 0.4962 0.58 0.24 0.75 0.48 0.66 rs2240735 COSM4129059 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6537 0.2047 0.6704 0.7177 0.5321 0.7246 0.7527 0.6961 0.4876 0.5783 0.2173 0.6504 0.7185 0.5291 0.7297 0.7445 0.6885 hom 1051.11 40 16 4027605 . C T 1051.11 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=57.63;MQ0=0;QD=26.28;VQSLOD=6.9070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:90.25:1084,90,0 16 4033436 4033436 T C exonic ADCY9 nonsynonymous SNV ADCY9:NM_001116:exon7:c.A2316G:p.I772M 0.26 0.12 0.23 0.38 0.34 0.26 0.3572 0.1796 0.3502 0.4854 0.3938 0.3736 0.3475 0.3182 0.26 0.15 0.31 0.33 0.22 rs2230739 COSM1162178 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.275 0.157 T 0.001 0.067 B 0.001 0.040 B 0.086 0.206 N 1 0.090 P 0.345 0.112 N -1.61 0.823 D 0.6 0.025 N 0.12 0.134 -1.058 0.123 T 0.000 0.000 T . . . -1.752 0.012 0.002 0.675 0.081 0.029 0.075 N c -1.650 -1.710 1.000 0.747 0.742 0.980 0 -7.94 0.010 -1.602 0.022 -0.835 0.030 0.000 0.063 0.267 0.231 11.379 0.488 . . . 0.2877 0.1298 0.2279 0.3103 0.4250 0.2868 0.3062 0.2973 0.2760 0.2617 0.1447 0.2368 0.2833 0.4342 0.2836 0.3048 0.2967 het 592.94 27 16 4033436 . T C 592.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.779;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=1.142;QD=21.96;ReadPosRankSum=-0.982;VQSLOD=6.4591;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,19:27:99:623,0,126 16 4164337 4164337 C T exonic ADCY9 synonymous SNV ADCY9:NM_001116:exon2:c.G1107A:p.R369R 0.019 0.0023 0.027 . 0.062 0.013 0.0444 0.0089 0.0234 0.0006 0.0705 0.0618 0.0532 0.0231 0.047 0.013 0.064 0.022 0.057 rs887248 COSM4151333 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0449 0.0081 0.0241 0.0905 0.0002 0.0723 0.0597 0.0492 0.0228 0.0448 0.0093 0.0346 0.0662 0.0006 0.0751 0.0631 0.0489 het 1039.25 129 16 4164337 . C T 1039.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.731;DP=129;Dels=0.00;FS=10.588;HRun=2;HaplotypeScore=2.5787;MQ=59.50;MQ0=0;MQRankSum=0.367;QD=8.06;ReadPosRankSum=0.437;VQSLOD=3.6751;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,43:129:99:1069,0,2593 16 4245693 4245693 A G exonic SRL synonymous SNV SRL:NM_001098814:exon5:c.T471C:p.R157R,SRL:NM_001323667:exon6:c.T345C:p.R115R,SRL:NM_001323668:exon6:c.T345C:p.R115R 0.81 0.97 0.71 0.76 0.73 0.83 0.7392 0.9280 0.6898 0.7493 0.7003 0.7106 0.74 0.7871 0.78 0.92 0.71 0.8 0.59 rs10852643 COSM5021859 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7326 0.9358 0.6889 0.6802 0.7488 0.7061 0.7119 0.7166 0.7843 0.7714 0.9355 0.6942 0.6457 0.7366 0.7003 0.7070 0.7102 hom 3076.93 93 16 4245693 . A G 3076.93 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=33.09;VQSLOD=9.8103;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3110,247,0 16 4386814 4386814 T C exonic GLIS2 synonymous SNV GLIS2:NM_032575:exon6:c.T864C:p.Y288Y,GLIS2:NM_001318918:exon8:c.T864C:p.Y288Y 0.99 1. 0.98 1. 0.98 0.99 0.9796 0.9952 0.9876 0.9999 0.9758 0.9708 0.9852 0.9901 0.97 0.99 0.97 0.85 0.93 rs669561 COSM4129065 1(thyroid) Benign|Benign not_specified|Nephronophthisis RCV000082303.5|RCV000287800.1 MedGen|MedGen:SNOMED_CT CN169374|C0687120:204958008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9795 0.9958 0.9891 0.9936 0.9999 0.9736 0.9684 0.9787 0.9897 0.9787 0.9945 0.9856 0.9901 0.9994 0.9745 0.9678 0.9755 hom 1780.98 55 16 4386814 . T C 1780.98 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=59.55;MQ0=0;QD=32.38;VQSLOD=9.1269;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1814,144,0 16 4431202 4431202 A G exonic VASN synonymous SNV VASN:NM_138440:exon2:c.A324G:p.T108T 0.69 0.61 0.74 0.79 0.79 0.55 0.7497 0.6369 0.7387 0.7897 0.7552 0.7953 0.7998 0.6212 0.74 0.65 0.79 0.7 0.75 rs758044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7511 0.6335 0.7393 0.8389 0.7840 0.7576 0.7914 0.7691 0.6224 0.7463 0.6287 0.7076 0.8543 0.7917 0.7616 0.8044 0.7724 het 386.89 35 16 4431202 . A G 386.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DP=35;Dels=0.00;FS=1.320;HRun=1;HaplotypeScore=0.9947;MQ=59.34;MQ0=0;MQRankSum=-0.417;QD=11.05;ReadPosRankSum=0.917;VQSLOD=6.6497;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,15:35:99:417,0,526 16 4432029 4432029 A C exonic VASN nonsynonymous SNV VASN:NM_138440:exon2:c.A1151C:p.E384A 0.69 0.61 0.74 0.79 0.78 0.55 0.7400 0.6373 0.7315 0.7849 0.7552 0.7799 0.7805 0.6247 0.74 0.65 0.78 0.64 0.39 rs3810818 COSM435258 1(thyroid) . . . . . . . . . . . 0.72 0.039 T 0.0 0.026 B 0.001 0.040 B 0.963 0.082 N 0.559 0.313 P 0 0.065 N 0.48 0.560 T -1.47 0.360 N 0.073 0.062 -0.955 0.401 T 0.000 0.000 T . . . -0.623 0.049 0.110 0.786 0.120 0.206 0.209 N c -0.915 -0.868 1.000 0.517 0.696 0.567 0 0.071 0.136 0.285 0.185 1.126 0.882 0.000 0.063 0.162 0.208 2.845 0.052 . ENSG00000153406.9|ENSG00000103415.7|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000089486.12|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000217930.3|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Whole_Blood 0.7375 0.6255 0.7317 0.8152 0.7787 0.7489 0.7741 0.7537 0.6168 0.7390 0.6245 0.7029 0.8344 0.7907 0.7579 0.7942 0.7613 het 367.79 21 16 4432029 . A C 367.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.518;DP=21;Dels=0.00;FS=2.017;HRun=0;HaplotypeScore=1.7326;MQ=60.00;MQ0=0;MQRankSum=-1.362;QD=17.51;ReadPosRankSum=0.195;VQSLOD=5.7147;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,15:21:99:398,0,167 16 4445327 4445327 C T exonic CORO7;CORO7-PAM16 nonsynonymous SNV CORO7:NM_001201473:exon5:c.G323A:p.R108Q,CORO7:NM_001201472:exon7:c.G524A:p.R175Q,CORO7-PAM16:NM_001201479:exon7:c.G578A:p.R193Q,CORO7:NM_024535:exon7:c.G578A:p.R193Q 0.51 0.12 0.58 0.78 0.71 0.49 0.6499 0.1935 0.5919 0.7760 0.6998 0.7285 0.7301 0.5685 0.55 0.22 0.72 0.42 0.69 rs3747579 COSM435259 1(thyroid) . . . . . . . . . . . 0.039 0.424 D 0.855 0.715 P 0.11 0.764 B 0.043 0.238 N 0.384 0.810 P 3.335 0.911 M -0.29 0.837 T -2.92 0.611 D 0.563 0.605 -0.967 0.378 T 0.000 0.000 T . . . 5.659 0.771 26.7 0.999 0.941 0.417 0.265 N c 0.281 0.194 1.000 0.747 0.706 0.609 0 4.17 0.481 1.165 0.312 0.852 0.362 0.287 0.250 0.999 0.750 11.864 0.516 WD40-repeat-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000153406.9|ENSG00000217930.3|ENSG00000217930.3|ENSG00000089486.12|ENSG00000217930.3|ENSG00000103415.7|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000089486.12|ENSG00000217930.3|ENSG00000217930.3|ENSG00000089486.12|ENSG00000089486.12|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000217930.3|ENSG00000103415.7|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000217930.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid|Thyroid|Thyroid 0.6536 0.1845 0.5869 0.7228 0.7685 0.7059 0.7255 0.6712 0.5705 0.5762 0.1972 0.5656 0.7133 0.7750 0.6979 0.7372 0.6949 het 889.37 61 16 4445327 . C T 889.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.399;DP=61;Dels=0.00;FS=3.665;HRun=0;HaplotypeScore=1.7480;MQ=59.31;MQ0=0;MQRankSum=0.911;QD=14.58;ReadPosRankSum=-0.401;VQSLOD=6.4504;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,35:61:99:919,0,630 16 4476089 4476089 T C exonic DNAJA3 nonsynonymous SNV DNAJA3:NM_001286516:exon1:c.T97C:p.Y33H 0.64 0.59 0.71 0.71 0.74 0.5 0.7225 0.6283 0.7311 0.7056 0.7460 0.7625 0.7690 0.6008 0.7 0.61 0.75 0.66 0.69 rs1139652 COSM435261;COSM1478877 1(thyroid) . . . . . . . . . . . 0.004 0.654 D 0.298 0.307 B 0.062 0.255 B . . . 1.000 0.810 P . . . 0.79 0.491 T -3.58 0.691 D . . -1.006 0.281 T 0.000 0.000 T . . . -0.201 0.076 1.094 0.965 0.293 0.014 0.047 N c -0.350 -0.264 1.000 0.747 0.442 0.072 0 4.5 0.542 0.093 0.148 -0.883 0.027 0.890 0.310 0.896 0.378 8.501 0.321 . ENSG00000153406.9|ENSG00000103415.7|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000103423.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000103415.7|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.7092 0.6024 0.7177 0.7108 0.6950 0.7405 0.7535 0.7155 0.5700 0.7050 0.5972 0.6986 0.7152 0.6896 0.7408 0.7590 0.7357 het 398.54 41 16 4476089 . T C 398.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.222;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.62;MQ0=0;MQRankSum=0.250;QD=9.72;ReadPosRankSum=-0.092;VQSLOD=6.1035;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,18:41:99:429,0,613 16 4484396 4484396 A T exonic DNAJA3 nonsynonymous SNV DNAJA3:NM_001135110:exon2:c.A223T:p.N75Y,DNAJA3:NM_005147:exon2:c.A223T:p.N75Y 0.64 0.65 0.63 0.7 0.7 0.49 0.6834 0.6646 0.6215 0.6890 0.6881 0.7282 0.7324 0.5497 0.7 0.66 0.72 0.65 0.69 rs1139653 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.019 0.274 N 1 0.488 P -0.875 0.014 N -0.08 0.639 T 0.83 0.018 N 0.081 0.074 -0.927 0.446 T 0.000 0.000 T . . . -0.342 0.065 0.532 0.756 0.108 0.015 0.050 N c -1.127 -0.933 1.000 0.747 0.732 0.924 0 5.2 0.716 2.040 0.406 0.088 0.194 0.948 0.327 0.748 0.321 6.299 0.202 . ENSG00000153406.9|ENSG00000217930.3|ENSG00000103415.7|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000103415.7|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000089486.12|ENSG00000089486.12|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000089486.12|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000103423.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000103415.7|ENSG00000153406.9|ENSG00000089486.12|ENSG00000217930.3|ENSG00000103415.7|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000153406.9|ENSG00000089486.12|ENSG00000103415.7|ENSG00000153406.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.6782 0.6646 0.6174 0.6878 0.6866 0.6991 0.7268 0.6756 0.5500 0.6959 0.6500 0.6232 0.6788 0.6840 0.6896 0.7285 0.7169 het 1770.17 156 16 4484396 . A T 1770.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.135;DP=156;Dels=0.00;FS=19.808;HRun=1;HaplotypeScore=1.5226;MQ=59.61;MQ0=0;MQRankSum=-0.417;QD=11.35;ReadPosRankSum=-0.633;VQSLOD=2.2073;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,65:156:99:1800,0,2431 16 4487486 4487486 G A exonic DNAJA3 synonymous SNV DNAJA3:NM_001135110:exon3:c.G429A:p.E143E,DNAJA3:NM_005147:exon3:c.G429A:p.E143E 0.0068 . 0.023 0.003 0.014 0.001 0.0144 0.0033 0.0422 0.0025 0.0364 0.0140 0.0045 0.0013 0.01 0.0027 0.014 . . rs1062706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0158 0.0026 0.0387 0.0069 0.0023 0.0370 0.0135 0.0139 0.0011 0.0150 0.0024 0.0239 0.0066 0.0019 0.0398 0.0176 0.0163 het 800.37 69 16 4487486 . G A 800.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.405;DP=69;Dels=0.00;FS=3.725;HRun=1;HaplotypeScore=5.0225;MQ=59.09;MQ0=0;MQRankSum=0.296;QD=11.60;ReadPosRankSum=1.381;VQSLOD=4.3437;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,31:69:99:830,0,1048 16 4496973 4496973 T A exonic DNAJA3 synonymous SNV DNAJA3:NM_001286516:exon6:c.T624A:p.G208G,DNAJA3:NM_001135110:exon8:c.T1083A:p.G361G,DNAJA3:NM_005147:exon8:c.T1083A:p.G361G 0.63 0.65 0.61 0.7 0.69 0.48 0.6717 0.6599 0.6145 0.6882 0.6854 0.7118 0.7192 0.5403 0.7 0.67 0.71 0.62 0.66 rs2304633 COSM4129071;COSM4129072;COSM4129070 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6666 0.6610 0.6109 0.6236 0.6856 0.6959 0.7138 0.6578 0.5423 0.6900 0.6546 0.6086 0.6133 0.6831 0.6857 0.7175 0.7055 hom 2353.08 77 16 4496973 . T A 2353.08 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2013;MQ=58.52;MQ0=0;QD=30.56;VQSLOD=8.5063;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2386,190,0 16 4748825 4748825 C T exonic ANKS3 synonymous SNV ANKS3:NM_001324129:exon9:c.G1008A:p.Q336Q,ANKS3:NM_001242929:exon10:c.G1206A:p.Q402Q,ANKS3:NM_001308089:exon12:c.G1140A:p.Q380Q,ANKS3:NM_001324130:exon12:c.G657A:p.Q219Q,ANKS3:NM_133450:exon13:c.G1527A:p.Q509Q 0.41 0.15 0.46 0.62 0.46 0.43 0.4569 0.2080 0.4713 0.6169 0.4528 0.4723 0.4783 0.4511 0.38 0.22 0.47 0.23 0.43 rs841214 COSM435279 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4515 0.2027 0.4587 0.4457 0.6101 0.4566 0.4638 0.4573 0.4300 0.4104 0.2135 0.4547 0.4338 0.6155 0.4665 0.4829 0.4753 het 1902.25 136 16 4748825 . C T 1902.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.334;DP=136;Dels=0.00;FS=3.261;HRun=1;HaplotypeScore=3.7998;MQ=58.86;MQ0=0;MQRankSum=0.167;QD=13.99;ReadPosRankSum=0.902;VQSLOD=5.4494;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,71:136:99:1932,0,1754 16 4751045 4751045 C T exonic ANKS3 nonsynonymous SNV ANKS3:NM_001324129:exon7:c.G691A:p.A231T,ANKS3:NM_001242929:exon8:c.G889A:p.A297T,ANKS3:NM_001308089:exon10:c.G823A:p.A275T,ANKS3:NM_001324130:exon10:c.G340A:p.A114T,ANKS3:NM_133450:exon11:c.G1210A:p.A404T 0.51 0.45 0.52 0.63 0.54 0.45 0.5336 0.4803 0.5149 0.6272 0.5544 0.5473 0.5521 0.4669 0.53 0.49 0.55 0.42 0.49 rs863980 COSM148013;COSM3927722 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);1(skin);1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.025 0.179 B 0.004 0.093 B 0.793 0.094 N 1 0.090 P 0 0.065 N 1.44 0.367 T 0.24 0.045 N 0.045 0.081 -0.961 0.390 T 0.000 0.000 T . . . -0.678 0.046 0.081 0.216 0.008 0.017 0.054 N c -1.882 -1.875 0.985 0.308 0.672 0.522 0 -4.46 0.033 -0.130 0.104 -0.686 0.039 0.047 0.211 0.002 0.062 3.583 0.074 . ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000168096.10|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000168101.10|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000168101.10|ENSG00000166246.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.5320 0.4753 0.5038 0.5066 0.6233 0.5605 0.5480 0.5361 0.4683 0.5432 0.4801 0.5167 0.4801 0.6312 0.5668 0.5668 0.5580 het 2382.93 247 16 4751045 . C T 2382.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.647;DP=247;DS;Dels=0.00;FS=2.947;HRun=0;HaplotypeScore=7.1796;MQ=59.40;MQ0=0;MQRankSum=0.374;QD=9.65;ReadPosRankSum=0.554;VQSLOD=4.5296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:151,96:247:99:2413,0,4195 16 4752134 4752134 A G exonic ANKS3 synonymous SNV ANKS3:NM_001324129:exon5:c.T459C:p.D153D,ANKS3:NM_001242929:exon6:c.T657C:p.D219D,ANKS3:NM_001308089:exon8:c.T591C:p.D197D,ANKS3:NM_001324130:exon8:c.T108C:p.D36D,ANKS3:NM_133450:exon9:c.T978C:p.D326D 0.53 0.47 0.53 0.65 0.56 0.45 0.5566 0.5116 0.5259 0.6415 0.5739 0.5736 0.5571 0.4835 0.55 0.52 0.57 0.28 0.48 rs841210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5400 0.4897 0.5016 0.5103 0.6289 0.5615 0.5642 0.5324 0.4699 0.5595 0.4972 0.5131 0.49 0.6445 0.5670 0.5882 0.5689 het 222.62 33 16 4752134 . A G 222.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.745;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.508;QD=6.75;ReadPosRankSum=1.050;VQSLOD=10.3960;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,11:33:99:253,0,634 16 4790273 4790273 G A exonic C16orf71 synonymous SNV C16orf71:NM_139170:exon4:c.G396A:p.E132E 0.55 0.46 0.55 0.68 0.6 0.49 0.5847 0.5050 0.5486 0.6741 0.5938 0.6072 0.6115 0.5174 0.58 0.52 0.61 0.49 0.48 rs859305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5847 0.5018 0.5434 0.5914 0.6691 0.6012 0.6091 0.5897 0.5201 0.5852 0.5070 0.5610 0.5563 0.6660 0.5966 0.6194 0.6148 het 1896.64 131 16 4790273 . G A 1896.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.384;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6114;MQ=59.25;MQ0=0;MQRankSum=0.822;QD=14.48;ReadPosRankSum=-0.256;VQSLOD=5.0254;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,68:131:99:1927,0,1640 16 4794873 4794873 C T exonic C16orf71 nonsynonymous SNV C16orf71:NM_139170:exon6:c.C904T:p.R302C 0.55 0.43 0.56 0.68 0.64 0.49 0.6088 0.4849 0.5560 0.6700 0.6506 0.6456 0.6411 0.5247 0.6 0.49 0.65 0.51 0.62 rs2075469 . . . . . . . . . . . . . 0.061 0.371 T 0.894 0.472 P 0.311 0.397 B 0.801 0.068 N 1 0.090 P 1.355 0.339 L 2.56 0.137 T -3.5 0.681 D 0.103 0.107 -1.003 0.291 T 0.000 0.000 T . . . 3.364 0.463 22.9 0.991 0.525 0.076 0.135 N c -0.502 -0.655 0.998 0.370 0.573 0.322 1 1.82 0.241 0.812 0.267 0.935 0.490 0.000 0.063 0.013 0.120 4.324 0.104 . ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000168101.10|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000168101.10|ENSG00000166246.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.6092 0.4783 0.5524 0.6010 0.6661 0.6581 0.6490 0.6110 0.5281 0.6072 0.4827 0.5755 0.5662 0.6632 0.6508 0.6630 0.6531 het 1659.40 125 16 4794873 . C T 1659.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.677;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9862;MQ=58.44;MQ0=0;MQRankSum=0.314;QD=13.28;ReadPosRankSum=1.074;VQSLOD=5.3853;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,64:125:99:1689,0,1505 16 4796393 4796393 A G exonic C16orf71 nonsynonymous SNV C16orf71:NM_139170:exon7:c.A1061G:p.Q354R 0.57 0.47 0.57 0.68 0.65 0.49 0.6185 0.5138 0.5635 0.6730 0.6624 0.6539 0.6515 0.5322 0.61 0.53 0.66 0.53 0.65 rs737700 . . . . . . . . . . . . . 0.729 0.038 T 0.0 0.026 B 0.0 0.013 B 0.081 0.023 N 1 0.090 P 0 0.065 N 3.32 0.062 T -0.09 0.084 N 0.007 0.000 -0.996 0.311 T 0.000 0.000 T . . . -2.461 0.004 0.001 0.379 0.025 0.023 0.065 N c -2.051 -2.129 1.000 0.747 0.421 0.056 0 -6.6 0.016 -1.485 0.024 -1.042 0.020 0.000 0.063 0.000 0.016 3.002 0.056 . ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000168101.10|ENSG00000166246.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.6184 0.5090 0.5604 0.6016 0.6680 0.6693 0.6578 0.6204 0.5337 0.6213 0.5155 0.5861 0.5695 0.6669 0.6615 0.6692 0.6598 het 988.70 113 16 4796393 . A G 988.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.484;DP=113;Dels=0.00;FS=2.555;HRun=3;HaplotypeScore=1.6647;MQ=58.81;MQ0=0;MQRankSum=-0.917;QD=8.75;ReadPosRankSum=0.015;VQSLOD=5.7489;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,44:113:99:1019,0,1928 16 4797457 4797457 C T exonic C16orf71 nonsynonymous SNV C16orf71:NM_139170:exon9:c.C1394T:p.P465L 0.43 0.058 0.51 0.65 0.6 0.46 0.5413 0.1340 0.5224 0.6420 0.6081 0.5987 0.5946 0.4853 0.44 0.14 0.6 0.26 0.51 rs17853375 . . . . . . . . . . . . . 0.054 0.386 T 0.011 0.147 B 0.006 0.112 B 0.237 0.036 N 1 0.090 P 1.935 0.520 L 1.4 0.336 T -4.66 0.794 D 0.031 0.012 -0.904 0.475 T 0.000 0.000 T . . . 1.928 0.293 15.76 0.946 0.245 0.104 0.158 N c -1.088 -1.141 0.999 0.371 0.523 0.210 0 0.549 0.163 0.030 0.135 -0.333 0.074 0.000 0.063 0.001 0.043 4.332 0.104 . ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000168101.10|ENSG00000166246.9|ENSG00000102858.8|ENSG00000103199.9|ENSG00000102858.8|ENSG00000102858.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.5451 0.1237 0.5130 0.5396 0.6366 0.6163 0.5991 0.5570 0.4885 0.4744 0.1342 0.5227 0.5364 0.6298 0.6116 0.6128 0.5787 het 1120.71 72 16 4797457 . C T 1120.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.393;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7229;MQ=57.97;MQ0=0;MQRankSum=1.517;QD=15.57;ReadPosRankSum=2.566;VQSLOD=3.6257;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,38:72:99:1151,0,876 16 4815602 4815602 T C exonic ZNF500 synonymous SNV ZNF500:NM_001303450:exon2:c.A378G:p.E126E,ZNF500:NM_021646:exon2:c.A378G:p.E126E 0.49 0.34 0.48 0.42 0.5 0.77 0.5554 0.3702 0.5257 0.4034 0.5821 0.5566 0.5368 0.7618 0.49 0.38 0.54 0.33 0.46 rs12919587 COSM3765910 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5518 0.3672 0.5351 0.4680 0.4044 0.5783 0.5518 0.5382 0.7551 0.4993 0.3766 0.5346 0.4570 0.4029 0.5840 0.5554 0.5717 het 1648.98 129 16 4815602 . T C 1648.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.781;DP=129;Dels=0.00;FS=5.678;HRun=3;HaplotypeScore=0.9916;MQ=59.80;MQ0=0;MQRankSum=2.217;QD=12.78;ReadPosRankSum=-2.373;VQSLOD=3.7819;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,60:129:99:1679,0,1908 16 4815608 4815608 A G exonic ZNF500 synonymous SNV ZNF500:NM_001303450:exon2:c.T372C:p.L124L,ZNF500:NM_021646:exon2:c.T372C:p.L124L 0.93 0.77 0.97 1. 1. 1. 0.9818 0.8102 0.9887 0.9999 1 0.9988 0.9933 0.9994 0.94 0.82 1. 0.85 0.84 rs4786549 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9854 0.8089 0.9878 0.9943 0.9999 1 0.9990 0.9893 0.9993 0.9437 0.8048 0.9845 0.9967 1 1 0.9987 0.9888 hom 3942.37 131 16 4815608 . A G 3942.37 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;QD=30.09;VQSLOD=7.8278;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:3941,337,0 16 4861709 4861709 G C exonic GLYR1 nonsynonymous SNV GLYR1:NM_001324096:exon13:c.C1182G:p.H394Q,GLYR1:NM_001324097:exon13:c.C1200G:p.H400Q,GLYR1:NM_001324098:exon13:c.C1392G:p.H464Q,GLYR1:NM_001308096:exon14:c.C1359G:p.H453Q,GLYR1:NM_032569:exon14:c.C1377G:p.H459Q . . . . . . 1 1 1 1 1 1 1 1 . . . 1. 0.98 rs2085329 COSM4590631 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 2187.04 71 16 4861709 . G C 2187.04 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9332;MQ=59.68;MQ0=0;QD=30.80;VQSLOD=8.4060;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2220,172,0 16 4933939 4933939 G C exonic PPL nonsynonymous SNV PPL:NM_002705:exon22:c.C4717G:p.Q1573E 0.4 0.03 0.47 0.65 0.53 0.47 0.5034 0.1027 0.4866 0.6586 0.5943 0.5518 0.5407 0.4508 0.4 0.12 0.55 0.36 0.53 rs2037912 COSM4416794 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.26 0.165 T 0.994 0.647 D 0.977 0.722 D 0.000 0.629 D 0.000 0.588 P 2.815 0.823 M 0.9 0.453 T -0.9 0.242 N 0.267 0.332 -1.006 0.282 T 0.000 0.000 T . . . 3.615 0.492 23.2 0.993 0.592 0.999 0.999 D c 0.692 0.718 1.0 0.983 0.672 0.522 0 5.83 0.930 9.557 0.972 1.048 0.713 1.000 0.715 0.995 0.604 20.118 0.979 . ENSG00000102858.8|ENSG00000118900.10|ENSG00000118900.10|ENSG00000140623.9|ENSG00000267795.1|ENSG00000267077.1|ENSG00000267077.1|ENSG00000140623.9|ENSG00000267077.1|ENSG00000067836.8|ENSG00000067836.8|ENSG00000118900.10|ENSG00000118900.10|ENSG00000102858.8|ENSG00000118900.10|ENSG00000140623.9|ENSG00000118900.10|ENSG00000140623.9|ENSG00000140623.9|ENSG00000267077.1|ENSG00000267077.1|ENSG00000140623.9|ENSG00000267795.1|ENSG00000067836.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.5111 0.0973 0.4944 0.4546 0.6490 0.5972 0.5552 0.5281 0.4509 0.4463 0.1061 0.4916 0.4901 0.6452 0.6108 0.5750 0.5438 hom 5504.49 172 16 4933939 . G C 5504.49 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2366;MQ=59.51;MQ0=0;QD=32.00;VQSLOD=7.2737;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5504,427,0 16 4934549 4934549 G A exonic PPL synonymous SNV PPL:NM_002705:exon22:c.C4107T:p.S1369S 0.41 0.06 0.47 0.63 0.53 0.47 0.5048 0.1219 0.4836 0.6424 0.6027 0.5529 0.5465 0.4478 0.41 0.13 0.55 0.32 0.52 rs1049208 COSM4419969 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5103 0.1128 0.4904 0.4564 0.6329 0.6064 0.5541 0.5297 0.4473 0.4472 0.1180 0.4916 0.4867 0.6256 0.6171 0.5713 0.5491 hom 8307.17 250 16 4934549 . G A 8307.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.339;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4359;MQ=59.36;MQ0=1;MQRankSum=-0.245;QD=33.23;ReadPosRankSum=1.283;VQSLOD=8.3345;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,248:250:99:8273,647,0 16 4934564 4934564 C G exonic PPL synonymous SNV PPL:NM_002705:exon22:c.G4092C:p.L1364L 0.42 0.1 0.47 0.65 0.53 0.47 0.5077 0.1483 0.4847 0.6556 0.5948 0.5530 0.5442 0.4512 0.42 0.16 0.55 0.34 0.53 rs1049207 COSM4418133 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5135 0.1417 0.4922 0.4564 0.6462 0.5978 0.5549 0.5303 0.4513 0.4553 0.1472 0.4928 0.49 0.6383 0.6100 0.5711 0.5471 hom 8392.19 250 16 4934564 . C G 8392.19 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8882;MQ=59.55;MQ0=1;QD=33.57;VQSLOD=7.8761;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8391,671,0 16 4938160 4938160 T G exonic PPL nonsynonymous SNV PPL:NM_002705:exon20:c.A2457C:p.R819S 0.94 0.78 0.98 1. 1. 1. 0.9805 0.7929 0.9865 1 1 0.9994 0.9868 0.9999 0.93 0.8 1. 0.94 0.98 rs2734742 . . . . . . . . . . . . . 0.875 0.026 T 0.0 0.026 B 0.0 0.013 B 0.046 0.235 N 1.000 0.090 P -1.39 0.006 N 0.82 0.656 T 1.75 0.005 N 0.037 0.100 -0.985 0.338 T 0.000 0.000 T . . . 1.629 0.257 14.01 0.828 0.139 0.540 0.293 D c -0.853 -0.598 0.985 0.308 0.672 0.522 0 2.92 0.329 0.660 0.245 0.136 0.221 0.994 0.380 0.420 0.257 3.297 0.065 . . . 0.9849 0.7911 0.9888 0.9999 1 1 0.9993 0.9905 0.9997 0.9434 0.8021 0.9857 1 1 1 0.9997 0.9918 hom 5138.81 161 16 4938160 . T G 5138.81 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.36;MQ0=0;QD=31.92;VQSLOD=9.5000;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:5138,400,0 16 4940809 4940809 A G exonic PPL synonymous SNV PPL:NM_002705:exon17:c.T2082C:p.C694C 0.93 0.75 0.98 1. 1. 1. 0.9793 0.7703 0.9862 1 1 0.9991 0.9860 0.9998 0.92 0.78 1. 0.91 0.69 rs2471844 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9834 0.7573 0.9879 0.9998 1 1 0.9991 0.9905 0.9995 0.9350 0.7720 0.9857 1 1 1 0.9996 0.9918 hom 951.30 28 16 4940809 . A G 951.30 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=59.17;MQ0=0;QD=33.97;VQSLOD=9.3719;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:81.24:984,81,0 16 4942099 4942099 C T exonic PPL nonsynonymous SNV PPL:NM_002705:exon15:c.G1766A:p.R589Q 0.4 0.034 0.47 0.64 0.54 0.46 0.5020 0.1024 0.4827 0.6413 0.5984 0.5535 0.5375 0.4451 0.41 0.12 0.55 0.37 0.54 rs1049205 COSM435328 2(haematopoietic_and_lymphoid_tissue);1(liver);1(skin) . . . . . . . . . . . 0.252 0.170 T 0.76 0.416 P 0.115 0.303 B 0.000 0.513 D 0.046 0.378 P 2.2 0.622 M 1.25 0.365 T -0.59 0.176 N 0.122 0.137 -0.954 0.403 T 0.000 0.000 T . . . 3.504 0.479 23.1 0.998 0.866 0.652 0.324 D c 0.116 0.205 1.000 0.747 0.650 0.456 0 5.35 0.762 5.684 0.676 0.843 0.344 1.000 0.715 0.917 0.393 6.972 0.237 . ENSG00000118900.10|ENSG00000118900.10|ENSG00000267077.1|ENSG00000140623.9|ENSG00000267795.1|ENSG00000267077.1|ENSG00000140623.9|ENSG00000267077.1|ENSG00000140623.9|ENSG00000267077.1|ENSG00000067836.8|ENSG00000067836.8|ENSG00000118900.10|ENSG00000118900.10|ENSG00000102858.8|ENSG00000118900.10|ENSG00000140623.9|ENSG00000118900.10|ENSG00000118900.10|ENSG00000140623.9|ENSG00000140623.9|ENSG00000267077.1|ENSG00000267077.1|ENSG00000140623.9|ENSG00000267795.1 Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5093 0.0968 0.4906 0.4540 0.6319 0.5999 0.5561 0.5283 0.4449 0.4467 0.1056 0.4904 0.49 0.6366 0.6122 0.5766 0.5459 hom 4019.68 129 16 4942099 . C T 4019.68 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7293;MQ=59.82;MQ0=0;QD=31.16;VQSLOD=8.6840;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4019,307,0 16 4944518 4944518 C G exonic PPL synonymous SNV PPL:NM_002705:exon12:c.G1344C:p.V448V 0.87 0.52 0.96 1. 1. 1. 0.9589 0.5615 0.9758 1 1 0.9983 0.9735 0.9995 0.85 0.57 1. 0.79 0.95 rs1876363 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9677 0.5532 0.9767 0.9992 1 1 0.9982 0.9799 0.9992 0.8748 0.5628 0.9761 1 1 1 0.9985 0.9775 hom 2047.50 65 16 4944518 . C G 2047.50 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.50;VQSLOD=13.3068;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2081,168,0 16 5050897 5050897 G C exonic SEC14L5 synonymous SNV SEC14L5:NM_014692:exon10:c.G1101C:p.G367G 0.4 0.41 0.49 0.26 0.47 0.37 0.4873 0.4556 0.5444 0.3350 0.4524 0.5157 0.4915 0.4420 0.45 0.41 0.47 0.38 . rs2286966 COSM4129099 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4497 0.4199 0.4773 0.4767 0.2903 0.4148 0.4850 0.4639 0.4112 0.4427 0.4243 0.4666 0.5 0.2990 0.4113 0.4731 0.4531 hom 394.54 14 16 5050897 . G C 394.54 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=28.18;VQSLOD=6.9244;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:33.10:428,33,0 16 5075542 5075542 G A exonic NAGPA synonymous SNV NAGPA:NM_016256:exon10:c.C1485T:p.N495N 0.79 0.89 0.7 0.82 0.66 0.83 0.7017 0.8618 0.7291 0.8360 0.5399 0.6411 0.6737 0.8218 0.72 0.85 0.65 0.81 0.67 rs887854 COSM3765914 1(liver) Benign not_specified RCV000250902.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6954 0.8642 0.7218 0.6640 0.8393 0.5454 0.6420 0.6738 0.8179 0.6989 0.8627 0.6981 0.6689 0.8459 0.5355 0.6307 0.6314 hom 5550.71 174 16 5075542 . G A 5550.71 Mask AC=2;AF=1.00;AN=2;DP=174;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=31.90;VQSLOD=9.6178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,173:174:99:5550,457,0 16 5083483 5083483 T C exonic NAGPA synonymous SNV NAGPA:NM_016256:exon2:c.A333G:p.G111G 0.73 0.63 0.7 0.83 0.68 0.84 0.7102 0.6624 0.7356 0.8246 0.5741 0.6643 0.6842 0.8266 0.68 0.68 0.69 0.5 0.3 rs2972272 . . Benign not_specified RCV000254046.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7044 0.6464 0.7338 0.7021 0.8357 0.5424 0.6538 0.6890 0.8223 0.6564 0.6550 0.7084 0.6755 0.8469 0.5409 0.6609 0.6443 hom 568.34 16 16 5083483 . T C 568.34 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=35.52;VQSLOD=9.0838;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:48.15:601,48,0 16 5106184 5106184 C T exonic C16orf89 synonymous SNV C16orf89:NM_001098514:exon5:c.G633A:p.G211G,C16orf89:NM_152459:exon5:c.G633A:p.G211G 0.52 0.4 0.64 0.57 0.63 0.46 0.5848 0.4378 0.6313 0.5489 0.6923 0.6210 0.6070 0.4657 0.57 0.46 0.62 0.54 0.49 rs741164 COSM4419909;COSM4419908;COSM4419910 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5909 0.4323 0.6269 0.6821 0.5507 0.6835 0.6168 0.6027 0.4614 0.5849 0.4322 0.6196 0.6556 0.5391 0.6954 0.6473 0.6214 het 835.40 75 16 5106184 . C T 835.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.220;DP=75;Dels=0.00;FS=2.044;HRun=0;HaplotypeScore=1.7356;MQ=58.48;MQ0=0;MQRankSum=0.378;QD=11.14;ReadPosRankSum=1.229;VQSLOD=6.0053;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,34:75:99:865,0,1165 16 5139217 5139217 C G exonic EEF2KMT synonymous SNV EEF2KMT:NM_001289029:exon5:c.G600C:p.G200G,EEF2KMT:NM_201598:exon6:c.G681C:p.G227G,EEF2KMT:NM_201400:exon7:c.G783C:p.G261G 0.81 0.64 0.79 0.91 0.89 0.86 0.8544 0.6925 0.7848 0.9249 0.8600 0.8814 0.8375 0.8518 0.83 0.7 0.9 0.23 0.87 rs9745857 COSM3754928 1(liver);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8559 0.6905 0.7923 0.8931 0.9285 0.8479 0.8846 0.8589 0.8527 0.8236 0.6886 0.8062 0.8775 0.9425 0.8526 0.8806 0.8513 het 1076.26 123 16 5139217 . C G 1076.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.644;DP=123;Dels=0.00;FS=1.852;HRun=0;HaplotypeScore=4.6480;MQ=58.00;MQ0=4;MQRankSum=0.602;QD=8.75;ReadPosRankSum=-0.132;VQSLOD=4.1162;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,46:123:99:1106,0,2233 16 5140541 5140541 G C exonic EEF2KMT nonsynonymous SNV EEF2KMT:NM_001289029:exon3:c.C185G:p.S62C,EEF2KMT:NM_201598:exon4:c.C266G:p.S89C,EEF2KMT:NM_201400:exon5:c.C368G:p.S123C 0.1 0.078 0.15 0.13 0.074 0.09 0.0951 0.0735 0.1908 0.0975 0.0874 0.0792 0.1148 0.1064 0.074 0.078 0.072 0.11 0.057 rs9673733 COSM3999871 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.195 0.259 T 0.009 0.154 B 0.019 0.210 B 0.981 0.081 N 1.000 0.186 P 1.155 0.297 L 3.33 0.074 T -1.69 0.511 N 0.063 0.048 -0.999 0.302 T 0.000 0.000 T . . . -0.573 0.051 0.145 0.849 0.151 0.093 0.149 N c -0.826 -0.860 0.000 0.029 0.707 0.730 0 1.83 0.242 0.560 0.230 1.047 0.674 0.000 0.063 0.822 0.344 15.082 0.717 S-adenosyl-L-methionine-dependent methyltransferase . . 0.0972 0.0718 0.1818 0.0455 0.0944 0.0932 0.0786 0.0975 0.1059 0.0828 0.0707 0.1687 0.0728 0.0866 0.0967 0.0809 0.0936 het 2282.23 163 16 5140541 . G C 2282.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.828;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7073;MQ=59.07;MQ0=0;MQRankSum=-0.005;QD=14.00;ReadPosRankSum=-0.065;VQSLOD=5.5178;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,86:163:99:2312,0,2020 16 8736028 8736028 T C exonic METTL22 synonymous SNV METTL22:NM_024109:exon8:c.T871C:p.L291L 0.99 0.95 0.99 1. 1. 1. 0.9962 0.9566 0.9983 0.9995 1 1.0000 0.9989 0.9999 0.99 0.96 1. 1. 1. rs1614616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9971 0.9569 0.9987 1 0.9997 1 1.0000 0.9987 1 0.9863 0.9525 0.9988 1 0.9988 1 0.9998 0.9980 hom 5041.70 167 16 8736028 . T C 5041.70 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6572;MQ=59.30;MQ0=0;QD=30.19;VQSLOD=7.4680;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:167:99:5041,382,0 16 8738427 8738427 T C exonic METTL22 synonymous SNV METTL22:NM_024109:exon10:c.T1024C:p.L342L 0.99 0.95 0.99 1. 1. 1. 0.9962 0.9569 0.9983 1 1 1.0000 0.9977 0.9999 0.99 0.96 1. 0.99 0.93 rs1641066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9863 0.9522 0.9988 1 1 1 0.9998 0.9980 hom 8416.04 245 16 8738427 . T C 8416.04 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8864;MQ=59.20;MQ0=0;QD=34.35;VQSLOD=5.7399;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:8415,683,0 16 8738499 8738499 G A exonic METTL22 nonsynonymous SNV METTL22:NM_024109:exon10:c.G1096A:p.A366T 0.99 0.95 0.99 1. 1. 1. 0.9963 0.9570 0.9983 1 1 0.9999 0.9978 0.9999 0.99 0.96 1. 0.96 0.97 rs1731000 . . . . . . . . . . . . . 0.559 0.064 T 0.006 0.126 B 0.004 0.093 B 0.666 0.060 N 1 0.090 P 1.905 0.510 L 2.23 0.304 T -0.23 0.107 N 0.223 0.274 -0.986 0.337 T 0.000 0.000 T . . . -0.320 0.067 0.599 0.818 0.134 0.124 0.171 N c -1.316 -1.399 1.000 0.747 0.707 0.730 0 -4.67 0.031 0.061 0.141 -0.312 0.078 0.000 0.063 0.000 0.016 3.329 0.066 . . . 0.9970 0.9569 0.9987 0.9988 1 1 1.0000 0.9987 1.0000 0.9866 0.9532 0.9988 1 1 1 0.9998 0.9980 hom 7438.99 225 16 8738499 . G A 7438.99 Mask AC=2;AF=1.00;AN=2;DP=225;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8348;MQ=59.69;MQ0=0;QD=33.06;VQSLOD=6.2831;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,222:225:99:7438,641,0 16 8738579 8738579 A G exonic METTL22 synonymous SNV METTL22:NM_024109:exon10:c.A1176G:p.Q392Q 0.99 0.95 0.99 1. 1. 1. 0.9964 0.9567 0.9983 1 1 1.0000 0.9988 0.9999 0.99 0.96 1. 1. 0.84 rs1641067 COSM3755168 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9970 0.9567 0.9986 1 1 1 1.0000 0.9985 1 0.9863 0.9522 0.9988 1 1 1 0.9998 0.9980 hom 2659.62 76 16 8738579 . A G 2659.62 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.45;MQ0=0;QD=34.99;VQSLOD=9.4793;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2693,214,0 16 8839954 8839954 A G exonic ABAT nonsynonymous SNV ABAT:NM_000663:exon3:c.A167G:p.Q56R,ABAT:NM_001127448:exon3:c.A167G:p.Q56R,ABAT:NM_020686:exon3:c.A167G:p.Q56R 0.5 0.28 0.6 0.6 0.6 0.53 0.5841 0.3266 0.6841 0.5945 0.6455 0.6095 0.5740 0.5436 0.51 0.34 0.6 0.52 0.61 rs1731017 . . Benign Gamma-aminobutyric_acid_transaminase_deficiency RCV000342704.1 MedGen:OMIM:Orphanet:SNOMED_CT C0342708:613163:ORPHA2066:237941007 . . . . . . 0.551 0.092 T 0.0 0.026 B 0.0 0.013 B 0.020 0.271 N 1.000 0.090 P -0.895 0.014 N -1.04 0.766 T 0.37 0.036 N 0.109 0.117 -0.948 0.413 T 0.000 0.000 T . . . -0.439 0.059 0.311 0.513 0.045 0.106 0.159 N c -1.322 -1.187 0.002 0.087 0.615 0.372 0 -2.86 0.053 0.508 0.222 -0.683 0.039 0.997 0.399 0.759 0.324 4.233 0.100 Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 . . 0.5924 0.3203 0.6784 0.5376 0.5847 0.6509 0.6126 0.5884 0.5411 0.5345 0.3255 0.6447 0.5497 0.5657 0.6463 0.6165 0.5922 het 1164.83 88 16 8839954 . A G 1164.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.040;DP=88;Dels=0.00;FS=2.427;HRun=2;HaplotypeScore=0.9996;MQ=59.74;MQ0=0;MQRankSum=-0.246;QD=13.24;ReadPosRankSum=-0.931;VQSLOD=6.6494;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,44:88:99:1195,0,1322 16 8952248 8952248 A G exonic CARHSP1 synonymous SNV CARHSP1:NM_001042476:exon3:c.T240C:p.T80T,CARHSP1:NM_001278263:exon3:c.T240C:p.T80T,CARHSP1:NM_001278264:exon3:c.T240C:p.T80T,CARHSP1:NM_001278265:exon3:c.T240C:p.T80T,CARHSP1:NM_001278266:exon3:c.T240C:p.T80T,CARHSP1:NM_014316:exon3:c.T240C:p.T80T,CARHSP1:NM_001278260:exon4:c.T240C:p.T80T,CARHSP1:NM_001278261:exon4:c.T240C:p.T80T,CARHSP1:NM_001278262:exon4:c.T240C:p.T80T 0.97 0.89 0.99 1. 1. 1. 0.9910 0.9032 0.9945 1 1 0.9997 0.9923 1 0.97 0.91 1. 0.98 0.92 rs988065 . . . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . -7.0 0.937 D . . . . . . . . . . . 0.947 0.184 10.35 0.881 0.172 0.711 0.346 D n 1.079 0.216 1.000 0.428 0.672 0.522 0 -0.591 0.110 -0.137 0.103 0.138 0.222 0.620 0.277 0.923 0.397 4.134 0.096 . . . 0.9926 0.8973 0.9945 0.9999 1 1.0000 0.9997 0.9927 0.9999 0.9699 0.8955 0.9905 1 1 1 0.9996 0.9949 hom 2168.42 66 16 8952248 . A G 2168.42 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9983;MQ=58.95;MQ0=0;QD=32.85;VQSLOD=9.7039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2201,172,0 16 8953081 8953081 C G exonic CARHSP1 synonymous SNV CARHSP1:NM_001042476:exon2:c.G105C:p.R35R,CARHSP1:NM_001278263:exon2:c.G105C:p.R35R,CARHSP1:NM_001278264:exon2:c.G105C:p.R35R,CARHSP1:NM_001278265:exon2:c.G105C:p.R35R,CARHSP1:NM_001278266:exon2:c.G105C:p.R35R,CARHSP1:NM_014316:exon2:c.G105C:p.R35R,CARHSP1:NM_001278260:exon3:c.G105C:p.R35R,CARHSP1:NM_001278261:exon3:c.G105C:p.R35R,CARHSP1:NM_001278262:exon3:c.G105C:p.R35R 0.57 0.34 0.53 0.66 0.67 0.71 0.6285 0.3911 0.5349 0.6776 0.6857 0.6500 0.6368 0.6997 0.55 0.39 0.64 0.49 0.43 rs8097 COSM3755231 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . -6.0 0.895 D . . . . . . . . . . . 1.574 0.251 13.71 0.949 0.252 0.873 0.465 D n 0.891 0.352 1.000 0.747 0.672 0.522 0 0.015 0.134 -0.162 0.099 0.031 0.150 0.309 0.252 0.839 0.350 4.950 0.133 . ENSG00000259939.1|ENSG00000259939.1|ENSG00000153048.6|ENSG00000259939.1|ENSG00000259939.1|ENSG00000140650.7|ENSG00000259939.1|ENSG00000259939.1|ENSG00000260350.1|ENSG00000259939.1|ENSG00000259939.1|ENSG00000259939.1|ENSG00000259939.1|ENSG00000259939.1|ENSG00000259939.1|ENSG00000259939.1|ENSG00000259939.1|ENSG00000259939.1|ENSG00000153048.6|ENSG00000259939.1|ENSG00000259939.1|ENSG00000259939.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6217 0.3686 0.5268 0.6457 0.6810 0.6702 0.6450 0.6193 0.6912 0.5625 0.3707 0.5375 0.6453 0.6523 0.6674 0.6359 0.6328 hom 953.42 33 16 8953081 . C G 953.42 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.73;MQ0=0;QD=28.89;VQSLOD=7.7804;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:81.23:986,81,0 16 9030444 9030444 C G exonic USP7 synonymous SNV USP7:NM_001286457:exon1:c.G27C:p.L9L 0.98 0.93 0.99 0.99 1. 1. 0.9936 0.9309 0.9934 0.9877 0.9997 0.9998 0.9951 0.9997 0.98 0.94 1. 0.9 . rs1382390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9948 0.9349 0.9958 0.9999 0.9907 0.9999 0.9997 0.9950 0.9998 0.9830 0.9430 0.9905 1 0.9932 1 0.9996 0.9959 hom 359.97 14 16 9030444 . C G 359.97 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=57.28;MQ0=0;QD=25.71;VQSLOD=5.7473;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:33.10:393,33,0 16 10524657 10524659 GAC - exonic ATF7IP2 nonframeshift deletion ATF7IP2:NM_024997:exon3:c.180_182del:p.T62del,ATF7IP2:NM_001256160:exon4:c.180_182del:p.T62del 0.6 0.56 0.57 0.7 0.57 0.62 0.5974 0.5685 0.6004 0.6759 0.5476 0.5882 0.5673 0.6309 0.59 0.57 0.6 . . rs571414967 COSM5713271 1(large_intestine);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5977 0.5657 0.5912 0.5385 0.6847 0.5503 0.5963 0.5827 0.6325 0.5830 0.5640 0.5761 0.5265 0.6971 0.5396 0.5929 0.5916 hom 3087.05 68 16 10524656 . GGAC G 3087.05 Mask AC=2;AF=1.00;AN=2;DP=68;FS=0.000;HRun=0;HaplotypeScore=291.8860;MQ=55.69;MQ0=0;QD=45.40;set=variant2 GT:AD:DP:GQ:PL 1/1:4,64:68:99:3129,193,0 16 10575824 10575824 C A exonic ATF7IP2 synonymous SNV ATF7IP2:NM_024997:exon12:c.C1767A:p.P589P 0.47 0.3 0.52 0.57 0.52 0.5 0.5083 0.3213 0.5521 0.5536 0.5452 0.5204 0.4934 0.5092 0.46 0.33 0.52 0.52 0.52 rs1970817 COSM1179765 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5151 0.3240 0.5456 0.4241 0.5575 0.5463 0.5287 0.5058 0.5120 0.4782 0.3276 0.5299 0.41 0.5593 0.5473 0.5355 0.5408 hom 4271.79 130 16 10575824 . C A 4271.79 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;QD=32.86;VQSLOD=9.5254;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4271,334,0 16 10631912 10631912 C T exonic EMP2 synonymous SNV EMP2:NM_001424:exon4:c.G189A:p.A63A 0.27 0.36 0.22 0.2 0.17 0.38 0.2239 0.3055 0.2852 0.1829 0.1237 0.1802 0.2241 0.3677 0.23 0.3 0.19 0.3 0.13 rs2279868 COSM3754599 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2224 0.3026 0.2767 0.2846 0.1802 0.1188 0.1778 0.2034 0.3672 0.2057 0.2994 0.2524 0.2881 0.1876 0.1285 0.1678 0.1912 het 2219.26 168 16 10631912 . C T 2219.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.617;DP=168;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4448;MQ=59.05;MQ0=0;MQRankSum=0.056;QD=13.21;ReadPosRankSum=0.895;VQSLOD=6.3362;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,85:168:99:2249,0,1967 16 10769958 10769958 T C exonic TEKT5 nonsynonymous SNV TEKT5:NM_144674:exon5:c.A944G:p.Q315R 0.63 0.69 0.6 0.81 0.36 0.67 0.5002 0.6591 0.7157 0.8252 0.3683 0.3748 0.4570 0.6403 0.48 0.65 0.39 0.6 0.41 rs2719710 COSM4998032 1(pancreas) . . . . . . . . . . . 0.461 0.087 T 0.001 0.067 B 0.009 0.133 B 0.005 0.335 N 1 0.090 P -0.67 0.020 N 4.26 0.026 T -0.43 0.144 N 0.26 0.317 -1.097 0.045 T 0.000 0.000 T . . . 1.332 0.224 12.43 0.953 0.260 0.449 0.272 N c -0.694 -0.497 0.814 0.244 0.516 0.203 0 2.67 0.306 0.975 0.288 -0.339 0.072 1.000 0.715 0.985 0.512 6.495 0.212 . . . 0.5042 0.6633 0.6934 0.4011 0.8222 0.3689 0.3783 0.4486 0.6378 0.4907 0.6564 0.6519 0.4305 0.8286 0.3519 0.3862 0.4286 het 2198.71 173 16 10769958 . T C 2198.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.024;DP=173;DS;Dels=0.00;FS=3.921;HRun=1;HaplotypeScore=2.8495;MQ=59.52;MQ0=0;MQRankSum=0.733;QD=12.71;ReadPosRankSum=1.633;VQSLOD=5.8261;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,89:173:99:2229,0,2396 16 10775855 10775855 G A exonic TEKT5 synonymous SNV TEKT5:NM_144674:exon4:c.C858T:p.D286D 0.29 0.14 0.4 0.54 0.16 0.31 0.2586 0.1562 0.5230 0.5408 0.2085 0.1855 0.2367 0.3072 0.18 0.16 0.19 0.23 0.17 rs12918646 COSM3932198 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2706 0.1529 0.5013 0.2010 0.5376 0.2090 0.1857 0.2511 0.3062 0.2101 0.1578 0.4641 0.1933 0.5467 0.2060 0.1910 0.2193 het 2690.32 189 16 10775855 . G A 2690.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.223;DP=189;Dels=0.00;FS=0.544;HRun=0;HaplotypeScore=4.1126;MQ=59.33;MQ0=0;MQRankSum=-0.148;QD=14.23;ReadPosRankSum=0.401;VQSLOD=6.1228;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,104:189:99:2720,0,2194 16 10788406 10788406 G T exonic TEKT5 synonymous SNV TEKT5:NM_144674:exon1:c.C325A:p.R109R 0.33 0.19 0.43 0.54 0.23 0.32 0.2865 0.2157 0.5291 0.5248 0.2632 0.2159 0.2666 0.3345 0.22 0.22 0.22 0.27 0.22 rs9922129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2978 0.2143 0.5115 0.2147 0.5232 0.2665 0.2158 0.2729 0.3247 0.2478 0.2152 0.4809 0.1946 0.5353 0.2666 0.2184 0.2643 het 2255.33 148 16 10788406 . G T 2255.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.957;DP=148;Dels=0.00;FS=4.113;HRun=0;HaplotypeScore=2.4095;MQ=59.75;MQ0=0;MQRankSum=-1.252;QD=15.24;ReadPosRankSum=1.449;VQSLOD=5.0455;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,80:148:99:2285,0,1795 16 10995933 10995933 A G exonic CIITA nonsynonymous SNV CIITA:NM_000246:exon7:c.A520G:p.R174G,CIITA:NM_001286402:exon7:c.A523G:p.R175G 0.99 0.95 1. 1. 1. 1. 0.9959 0.9548 0.9980 1 1 0.9999 0.9978 0.9999 0.98 0.95 1. 0.96 0.95 rs8046121 COSM4128622 1(thyroid) Benign not_specified RCV000455690.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9509 0.9976 1 1 1 1.0000 0.9976 0.9999 0.9861 0.9511 1 1 1 1 0.9999 0.9990 hom 6610.28 190 16 10995933 . A G 6610.28 Mask AC=2;AF=1.00;AN=2;DP=190;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9178;MQ=58.80;MQ0=0;QD=34.79;VQSLOD=7.6365;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:6610,530,0 16 11001680 11001680 G T exonic CIITA synonymous SNV CIITA:NM_000246:exon11:c.G2331T:p.S777S,CIITA:NM_001286402:exon11:c.G2334T:p.S778S 0.024 0.0008 0.032 0.001 0.086 0.01 0.0675 0.0150 0.0359 0.0002 0.1145 0.0974 0.0749 0.0172 0.067 0.016 0.093 0.022 0.098 rs34685848 COSM3754600 4(soft_tissue);1(large_intestine) Likely benign SCID_due_to_absent_class_II_HLA_antigens RCV000297101.1 MedGen:OMIM:SNOMED_CT C0242583:209920:71904008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0656 0.0138 0.0333 0.0604 0.0002 0.1137 0.0963 0.0768 0.0175 0.0665 0.0132 0.0430 0.0629 0.0006 0.1165 0.0936 0.0796 het 967.37 76 16 11001680 . G T 967.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.042;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=60.00;MQ0=0;MQRankSum=0.208;QD=12.73;ReadPosRankSum=0.782;VQSLOD=5.8434;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,35:76:99:997,0,1119 16 11001743 11001743 G A exonic CIITA synonymous SNV CIITA:NM_000246:exon11:c.G2394A:p.P798P,CIITA:NM_001286402:exon11:c.G2397A:p.P799P 0.19 0.013 0.15 0.31 0.22 0.29 0.2122 0.0515 0.1418 0.3099 0.2518 0.2126 0.2375 0.2956 0.15 0.052 0.2 0.12 0.16 rs2229320 COSM3754602 6(soft_tissue);3(large_intestine) Benign|Benign SCID_due_to_absent_class_II_HLA_antigens|not_specified RCV000321727.1|RCV000455062.1 MedGen:OMIM:SNOMED_CT|MedGen C0242583:209920:71904008|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2119 0.0447 0.1498 0.2260 0.3133 0.2648 0.2091 0.1931 0.2779 0.1683 0.0527 0.1396 0.1954 0.3030 0.2417 0.2022 0.2133 het 670.37 39 16 11001743 . G A 670.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.442;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7234;MQ=58.81;MQ0=0;MQRankSum=-0.157;QD=17.19;ReadPosRankSum=1.613;VQSLOD=5.0971;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,23:39:99:700,0,415 16 11002904 11002904 G A exonic CIITA synonymous SNV CIITA:NM_001286403:exon10:c.G924A:p.T308T,CIITA:NM_000246:exon12:c.G2676A:p.T892T,CIITA:NM_001286402:exon12:c.G2679A:p.T893T 0.66 0.47 0.55 0.87 0.71 0.74 0.6840 0.5100 0.5 0.8514 0.7610 0.7008 0.7316 0.7321 0.63 0.51 0.7 0.5 0.61 rs2228238 . . Benign|Benign SCID_due_to_absent_class_II_HLA_antigens|not_specified RCV000388213.1|RCV000455131.1 MedGen:OMIM:SNOMED_CT|MedGen C0242583:209920:71904008|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6820 0.5085 0.5037 0.7042 0.8512 0.7635 0.7023 0.6753 0.7295 0.6606 0.5082 0.5490 0.7267 0.8681 0.7666 0.7023 0.7336 hom 3051.96 90 16 11002904 . G A 3051.96 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=33.91;VQSLOD=9.6733;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3085,241,0 16 11002927 11002927 A G exonic CIITA nonsynonymous SNV CIITA:NM_001286403:exon10:c.A947G:p.Q316R,CIITA:NM_000246:exon12:c.A2699G:p.Q900R,CIITA:NM_001286402:exon12:c.A2702G:p.Q901R 0.93 0.74 0.99 1. 1. 1. 0.9787 0.7671 0.9916 1 1 0.9996 0.9912 0.9979 0.92 0.76 1. 0.9 0.92 rs7197779 . . Benign|Benign SCID_due_to_absent_class_II_HLA_antigens|not_specified RCV000292677.1|RCV000455801.1 MedGen:OMIM:SNOMED_CT|MedGen C0242583:209920:71904008|CN169374 . . . . . . 0.518 0.073 T 0.001 0.067 B 0.002 0.063 B 0.074 0.213 N 1.000 0.202 P 1.3 0.327 L -0.68 0.726 T -1.19 0.303 N 0.022 0.010 -0.980 0.351 T 0.000 0.000 T . . . -0.355 0.065 0.495 0.650 0.074 0.488 0.280 N c -1.090 -1.026 0.956 0.282 0.672 0.522 0 -0.248 0.123 0.922 0.282 -1.346 0.013 0.932 0.321 0.010 0.111 11.026 0.468 . . . 0.9834 0.7652 0.9903 1 0.9999 1 0.9996 0.9900 0.9979 0.9325 0.7626 0.9928 1 1 1 0.9994 0.9949 hom 2596.06 79 16 11002927 . A G 2596.06 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=32.86;VQSLOD=9.4023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2629,226,0 16 11362729 11362729 G A exonic TNP2 nonsynonymous SNV TNP2:NM_005425:exon1:c.C391T:p.R131W 0.33 0.26 0.35 0.24 0.54 0.3 0.4509 0.2834 0.2475 0.2447 0.5940 0.5393 0.4615 0.3674 0.45 0.27 0.53 0.3 . rs11640138 COSM4128626 1(thyroid) . . . . . . . . . . . 0.078 0.339 T 0.886 0.468 P 0.239 0.369 B 0.097 0.201 N 0.999 0.215 P 1.485 0.373 L 0.57 0.544 T -5.54 0.861 D 0.096 0.097 -0.902 0.478 T 0.000 0.000 T . . . 5.323 0.720 25.8 0.997 0.828 0.553 0.296 D c -0.245 -0.332 0.363 0.198 0.497 0.185 0 1.74 0.235 2.135 0.415 1.048 0.713 0.963 0.335 0.045 0.161 5.966 0.184 . ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000263080.1|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000175643.7|ENSG00000263080.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid 0.4378 0.2747 0.2640 0.4125 0.2474 0.5812 0.5404 0.4722 0.3261 0.4500 0.2884 0.3055 0.42 0.2600 0.5825 0.5372 0.5246 het 703.30 42 16 11362729 . G A 703.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.686;DP=42;Dels=0.00;FS=1.209;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.246;QD=16.75;ReadPosRankSum=-0.635;VQSLOD=6.0913;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,26:42:99:733,0,382 16 11374866 11374866 G T exonic PRM1 synonymous SNV PRM1:NM_002761:exon2:c.C139A:p.R47R 0.49 0.5 0.43 0.32 0.68 0.48 0.5943 0.5388 0.3310 0.3087 0.6964 0.6977 0.5991 0.5047 0.65 0.54 0.7 0.56 0.6 rs737008 COSM1375814 1(haematopoietic_and_lymphoid_tissue) . . . . . Obesity-related traits . .04 23251661 rs737008 8E-7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5848 0.5270 0.3499 0.5418 0.3115 0.6894 0.7082 0.6174 0.5069 0.6303 0.5409 0.3995 0.5633 0.3203 0.6942 0.7110 0.6898 het 3055.62 213 16 11374866 . G T 3055.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.061;DP=213;DS;Dels=0.00;FS=5.813;HRun=0;HaplotypeScore=2.5173;MQ=59.05;MQ0=0;MQRankSum=-0.375;QD=14.35;ReadPosRankSum=-1.347;VQSLOD=5.0599;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,113:213:99:3086,0,2609 16 11444572 11444572 A C exonic RMI2 synonymous SNV RMI2:NM_152308:exon2:c.A369C:p.T123T 0.18 0.25 0.16 0.001 0.26 0.19 0.2009 0.2455 0.1166 0.0064 0.2471 0.2332 0.1909 0.1855 0.25 0.24 0.25 0.2 0.19 rs7204628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1968 0.2360 0.1268 0.1825 0.0053 0.2355 0.2382 0.2163 0.1834 0.2216 0.2503 0.1400 0.1821 0.0093 0.2270 0.2317 0.2245 het 1115.86 117 16 11444572 . A C 1115.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.593;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.14;MQ0=0;MQRankSum=1.073;QD=9.54;ReadPosRankSum=-2.015;VQSLOD=5.3816;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,51:117:99:1146,0,1743 16 11852354 11852354 A C exonic ZC3H7A synonymous SNV ZC3H7A:NM_014153:exon20:c.T2361G:p.V787V 0.53 0.64 0.55 0.59 0.41 0.45 0.4474 0.6036 0.5730 0.6063 0.3607 0.4010 0.4229 0.4014 0.48 0.59 0.42 0.52 0.49 rs8743 COSM5021864 1(bone);1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4505 0.6048 0.5678 0.3683 0.6160 0.3692 0.4064 0.4454 0.3990 0.4685 0.6068 0.5323 0.3808 0.6203 0.3810 0.3952 0.3937 het 1360.62 106 16 11852354 . A C 1360.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.091;DP=106;Dels=0.00;FS=3.665;HRun=2;HaplotypeScore=1.8279;MQ=59.65;MQ0=0;MQRankSum=-0.070;QD=12.84;ReadPosRankSum=-0.278;VQSLOD=6.2488;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,51:106:99:1391,0,1380 16 11873158 11873158 T C exonic ZC3H7A nonsynonymous SNV ZC3H7A:NM_014153:exon4:c.A170G:p.H57R 0.058 0.095 0.063 . 0.084 0.037 0.0597 0.1001 0.0434 0.0001 0.0634 0.0677 0.0607 0.0433 0.08 0.1 0.067 0.11 0.025 rs16958654 COSM3754612 1(large_intestine) . . . . . . . . . . . 0.329 0.132 T 0.0 0.026 B 0.0 0.013 B 0.007 0.314 N 1.000 0.090 P -0.965 0.012 N -0.72 0.730 T 0.68 0.022 N 0.052 0.370 -1.090 0.055 T 0.004 0.012 T . . . 0.762 0.167 9.228 0.919 0.206 0.071 0.130 N c -1.131 -0.987 0.990 0.319 0.745 0.986 0 1.53 0.221 0.472 0.217 -0.382 0.065 0.001 0.137 0.848 0.354 8.921 0.346 Tetratricopeptide-like helical domain . . 0.0603 0.1004 0.0480 0.1298 0.0001 0.0672 0.0645 0.0681 0.0436 0.0703 0.0978 0.0525 0.1093 0 0.0682 0.0626 0.0703 het 1501.63 158 16 11873158 . T C 1501.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.892;DP=158;Dels=0.00;FS=1.300;HRun=0;HaplotypeScore=2.8636;MQ=58.46;MQ0=0;MQRankSum=-1.477;QD=9.50;ReadPosRankSum=1.190;VQSLOD=4.8432;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:89,69:158:99:1532,0,2106 16 11876203 11876203 T C exonic ZC3H7A nonsynonymous SNV ZC3H7A:NM_014153:exon2:c.A8G:p.N3S 0.058 0.095 0.063 . 0.085 0.037 0.0597 0.1010 0.0435 0.0001 0.0634 0.0676 0.0606 0.0433 0.08 0.1 0.067 0.11 0.033 rs1429077 COSM3754613 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.421 N 1.000 0.090 P 0.22 0.096 N 2.97 0.304 T -0.24 0.108 N 0.01 0.089 -0.985 0.338 T 0.000 0.001 T . . . 0.138 0.107 4.014 0.309 0.017 0.309 0.240 N c -0.752 -0.487 1.000 0.747 0.706 0.609 0 4.31 0.505 0.453 0.214 0.040 0.155 0.997 0.399 1.000 0.888 7.143 0.246 . . . 0.0604 0.1015 0.0482 0.1298 0.0001 0.0670 0.0644 0.0680 0.0439 0.0708 0.0994 0.0525 0.1093 0 0.0682 0.0627 0.0713 het 2657.33 194 16 11876203 . T C 2657.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.584;DP=194;Dels=0.00;FS=3.366;HRun=0;HaplotypeScore=6.3909;MQ=58.73;MQ0=0;MQRankSum=1.519;QD=13.70;ReadPosRankSum=0.591;VQSLOD=4.5291;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,97:194:99:2687,0,2389 16 11940390 11940390 T C exonic RSL1D1 synonymous SNV RSL1D1:NM_015659:exon5:c.A603G:p.T201T 0.7 0.98 0.8 0.44 0.66 0.59 0.6791 0.9391 0.8491 0.4195 0.6361 0.6679 0.6545 0.5955 0.75 0.93 0.66 0.75 0.62 rs8052900 COSM148023 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6754 0.9445 0.8382 0.6769 0.4186 0.6284 0.6649 0.6743 0.5905 0.7272 0.9430 0.7950 0.6954 0.4237 0.6337 0.6575 0.6541 hom 3219.84 101 16 11940390 . T C 3219.84 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=31.88;VQSLOD=9.1882;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3253,256,0 16 11981487 11981487 G A exonic GSPT1 synonymous SNV GSPT1:NM_001130006:exon7:c.C894T:p.G298G,GSPT1:NM_001130007:exon7:c.C483T:p.G161G,GSPT1:NM_002094:exon7:c.C897T:p.G299G 0.12 0.026 0.21 0.011 0.32 0.091 0.2333 0.0715 0.1294 0.0062 0.2593 0.3300 0.2362 0.1213 0.25 0.076 0.34 0.11 . rs3752426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2300 0.0646 0.1395 0.2644 0.0064 0.2557 0.3347 0.2530 0.1226 0.2244 0.0798 0.1595 0.2649 0.0049 0.2520 0.3270 0.2510 het 1901.19 161 16 11981487 . G A 1901.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.874;DP=161;Dels=0.00;FS=0.591;HRun=0;HaplotypeScore=5.6065;MQ=59.35;MQ0=0;MQRankSum=1.400;QD=11.81;ReadPosRankSum=2.313;VQSLOD=4.1239;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,79:161:99:1931,0,2117 16 12060163 12060163 A G exonic TNFRSF17 nonsynonymous SNV TNFRSF17:NM_001192:exon2:c.A242G:p.N81S 0.96 0.89 0.99 1. 0.99 0.97 0.9792 0.9007 0.9918 0.9995 0.9932 0.9875 0.9812 0.9696 0.96 0.9 0.99 0.96 1. rs373496 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 1.000 0.080 N 1 0.219 P -0.345 0.033 N 2.97 0.095 T -0.34 0.127 N 0.0 0.056 -0.975 0.360 T 0.000 0.000 T . . . -2.420 0.004 0.001 0.480 0.039 0.039 0.092 N c -1.765 -1.750 1.000 0.747 0.442 0.072 0 -3.14 0.049 -0.805 0.046 -1.377 0.012 0.000 0.063 0.038 0.155 7.176 0.248 . . . 0.9820 0.8999 0.9917 0.9876 0.9995 0.9925 0.9878 0.9850 0.9718 0.9635 0.9007 0.9881 0.9901 1 0.9917 0.9861 0.9868 hom 3936.52 121 16 12060163 . A G 3936.52 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=32.53;VQSLOD=9.7054;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3936,301,0 16 12162969 12162969 A G exonic SNX29 synonymous SNV SNX29:NM_032167:exon10:c.A1299G:p.P433P 0.61 0.81 0.5 0.53 0.46 0.65 0.4809 0.7342 0.4736 0.5202 0.4370 0.4115 0.4599 0.6145 0.51 0.74 0.41 0.64 . rs1641843 COSM3754618;COSM148024;COSM3754617 1(bone);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4756 0.7385 0.4750 0.3805 0.5182 0.4370 0.4106 0.4681 0.6173 0.5105 0.7242 0.4857 0.3742 0.5124 0.4387 0.4092 0.4714 het 1188.36 109 16 12162969 . A G 1188.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.240;DP=109;Dels=0.00;FS=1.623;HRun=1;HaplotypeScore=4.3135;MQ=59.49;MQ0=0;MQRankSum=-0.808;QD=10.90;ReadPosRankSum=0.099;VQSLOD=5.3547;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,49:109:99:1218,0,1488 16 12662420 12662420 C T exonic SNX29 synonymous SNV SNX29:NM_032167:exon21:c.C2376T:p.F792F 0.33 0.41 0.2 0.45 0.23 0.27 0.2575 0.3643 0.1669 0.4419 0.2770 0.2258 0.2926 0.2810 0.26 0.34 0.22 0.32 . rs2288423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2532 0.3643 0.1745 0.2265 0.4402 0.2721 0.2244 0.2299 0.2856 0.2791 0.3502 0.1766 0.2384 0.4164 0.2709 0.2317 0.2730 het 513.03 37 16 12662420 . C T 513.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.510;DP=37;Dels=0.00;FS=8.640;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.107;QD=13.87;ReadPosRankSum=2.499;VQSLOD=2.9526;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,21:37:99:543,0,494 16 12758966 12758966 T C exonic CPPED1 nonsynonymous SNV CPPED1:NM_001099455:exon3:c.A296G:p.K99R,CPPED1:NM_018340:exon4:c.A722G:p.K241R 0.73 0.69 0.73 0.54 0.95 0.77 0.8551 0.7401 0.6747 0.5519 0.9672 0.9418 0.8800 0.8076 0.89 0.76 0.94 0.71 0.97 rs1713480 COSM4418628 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.405 0.103 T 0.045 0.204 B 0.015 0.179 B 0.000 0.537 N 1.000 0.588 P 0.8 0.197 N -2.04 0.943 D -0.94 0.305 N 0.037 0.036 -0.990 0.327 T 0.000 0.000 T . . . 0.817 0.172 9.567 0.962 0.283 0.742 0.360 D c -0.894 -0.800 0.000 0.053 0.707 0.730 0 -0.704 0.106 0.323 0.192 -0.957 0.024 0.849 0.302 0.571 0.283 5.434 0.157 Calcineurin-like phosphoesterase domain\x2c apaH type|Metallo-dependent phosphatase-like . . 0.8509 0.7296 0.6683 0.8279 0.5378 0.9682 0.9480 0.8680 0.8051 0.8634 0.7294 0.7181 0.8510 0.5496 0.9665 0.9554 0.9196 hom 2310.32 74 16 12758966 . T C 2310.32 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=31.22;VQSLOD=8.9445;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2343,184,0 16 14041958 14041958 T C exonic ERCC4 synonymous SNV ERCC4:NM_005236:exon11:c.T2505C:p.S835S 0.24 0.17 0.21 0.26 0.29 0.29 0.2723 0.1779 0.2260 0.2353 0.2398 0.2943 0.2731 0.3075 0.25 0.17 0.29 0.22 0.21 rs1799801 COSM5019091 12(soft_tissue) other|Benign not_specified|Xeroderma_pigmentosum RCV000116988.3|RCV000265728.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0043346:ORPHA910:44600005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2725 0.1728 0.2320 0.3128 0.2390 0.2355 0.2949 0.2911 0.3144 0.2433 0.1744 0.2661 0.3245 0.2429 0.2291 0.2802 0.2984 het 958.18 65 16 14041958 . T C 958.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.709;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6706;MQ=59.65;MQ0=0;MQRankSum=-2.606;QD=14.74;ReadPosRankSum=-1.221;VQSLOD=3.9816;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,36:65:99:988,0,791 16 14042077 14042077 A G exonic ERCC4 nonsynonymous SNV ERCC4:NM_005236:exon11:c.A2624G:p.E875G 0.0058 0.0008 0.0043 . 0.02 0.0051 0.0131 0.0031 0.0074 0 0.0200 0.0193 0.0121 0.0026 0.013 0.0043 0.017 0.011 0.0082 rs1800124 COSM4987639 1(soft_tissue) other|Likely benign|Likely benign|Benign|Benign|Benign not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Cockayne_syndrome|Fanconi_anemia\x2c_complementation_group_Q|Xeroderma_pigmentosum\x2c_group_F RCV000116989.4|RCV000210773.1|RCV000224428.1|RCV000228558.2|RCV000228558.2|RCV000228558.2 MedGen|MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0027672:699346009|CN221809|C0009207:ORPHA191:21086008|C3808988:615272|C0268140:278760:ORPHA276264:42530008 . . . . . . 0.01 0.564 D 0.937 0.505 P 0.585 0.485 P 0.000 0.843 D 1 0.810 D 2.69 0.790 M 2.44 0.152 T -4.53 0.783 D 0.252 0.308 -1.045 0.159 T 0.050 0.214 T . . . 5.955 0.818 27.7 0.999 0.971 0.992 0.920 D c 0.647 0.617 1.000 0.747 0.563 0.310 0 6.16 0.993 8.697 0.910 1.199 0.960 1.000 0.715 0.939 0.413 15.987 0.799 RuvA domain 2-like . . 0.0134 0.0032 0.0104 0.0169 0 0.0209 0.0187 0.0171 0.0029 0.0121 0.0033 0.0119 0.01 0 0.0180 0.0164 0.0234 het 2373.79 160 16 14042077 . A G 2373.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.310;DP=160;Dels=0.00;FS=1.288;HRun=1;HaplotypeScore=0.9997;MQ=59.58;MQ0=0;MQRankSum=-0.130;QD=14.84;ReadPosRankSum=0.759;VQSLOD=6.6935;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,85:160:99:2404,0,1990 16 14742400 14742400 T G exonic BFAR nonsynonymous SNV BFAR:NM_016561:exon3:c.T419G:p.M140R 0.25 0.12 0.4 0.16 0.39 0.28 0.3544 0.1631 0.4098 0.1703 0.5109 0.3961 0.4130 0.2983 0.32 0.18 0.39 0.26 0.3 rs11546303 COSM1376003 1(breast) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.810 P -1.04 0.011 N 3.38 0.058 T 0.73 0.021 N 0.093 0.092 -0.923 0.452 T 0.000 0.000 T . . . 1.555 0.249 13.61 0.700 0.089 0.066 0.125 N c -0.712 -0.422 0.998 0.367 0.707 0.730 0 6.08 0.990 3.606 0.536 0.136 0.221 1.000 0.715 0.984 0.507 16.121 0.811 . . . 0.3615 0.1590 0.4026 0.4172 0.1706 0.4936 0.3908 0.3824 0.3008 0.3308 0.1610 0.3926 0.4834 0.1725 0.4934 0.3982 0.3937 het 4083.73 244 16 14742400 . T G 4083.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.302;DP=244;DS;Dels=0.00;FS=2.205;HRun=3;HaplotypeScore=4.2741;MQ=59.00;MQ0=0;MQRankSum=0.559;QD=16.74;ReadPosRankSum=0.721;VQSLOD=5.5445;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:125,119:244:99:3469,0,3211 16 15729650 15729650 C T exonic MARF1 nonsynonymous SNV MARF1:NM_001184998:exon3:c.G694A:p.G232R,MARF1:NM_001184999:exon3:c.G694A:p.G232R,MARF1:NM_014647:exon3:c.G694A:p.G232R 0.0002 . . . 0.001 . 0.0004 0.0003 0 0.0001 0 0.0007 0 0 0.0005 0.0003 0.0006 . . rs192438053 . . . . . . . . . . . . . 0.003 0.912 D 0.999 0.764 D 0.913 0.631 D 0.001 0.436 D 1.000 0.588 D 0.46 0.130 N . . . -1.5 0.366 N 0.753 0.748 -0.189 0.780 T 0.399 0.751 T 0.013 0.323 T 5.331 0.721 25.8 0.999 0.984 0.948 0.620 D c 0.641 0.658 1.000 0.747 0.722 0.854 0 5.91 0.952 2.466 0.445 0.935 0.490 1.000 0.715 0.995 0.604 20.299 0.986 . . . 0.0006 0.0003 5.956e-05 0 5.798e-05 0.0001 0.0011 0.0004 0 0.0005 0.0002 0 0 0 0 0.0007 0.0010 het 1236.76 109 16 15729650 . C T 1236.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.236;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.79;MQ0=0;MQRankSum=1.377;QD=11.35;ReadPosRankSum=-1.058;VQSLOD=4.7372;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,46:109:99:1267,0,1683 16 15818141 15818141 A C exonic MYH11 synonymous SNV MYH11:NM_002474:exon31:c.T4242G:p.A1414A,MYH11:NM_022844:exon31:c.T4242G:p.A1414A,MYH11:NM_001040113:exon32:c.T4263G:p.A1421A,MYH11:NM_001040114:exon32:c.T4263G:p.A1421A 0.41 0.26 0.53 0.32 0.5 0.54 0.5009 0.2990 0.5935 0.2889 0.5191 0.5368 0.5110 0.5216 0.46 0.31 0.54 0.38 0.55 rs2075511 COSM5424462;COSM5424461 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) Benign|other|Benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Lissencephaly\x2c_Recessive RCV000126950.4|RCV000250056.2|RCV000316233.1 MedGen|MedGen:Orphanet|MedGen CN169374|CN118826:ORPHA91387|CN239458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5078 0.2928 0.5871 0.6578 0.2855 0.5193 0.5276 0.5366 0.5192 0.4487 0.3073 0.5800 0.6358 0.2938 0.5189 0.5164 0.5081 het 1020.25 111 16 15818141 . A C 1020.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.726;DP=111;Dels=0.00;FS=1.571;HRun=0;HaplotypeScore=4.9847;MQ=59.27;MQ0=0;MQRankSum=0.809;QD=9.19;ReadPosRankSum=0.453;VQSLOD=5.4280;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,44:111:99:1050,0,1953 16 15820863 15820863 C T exonic MYH11 nonsynonymous SNV MYH11:NM_002474:exon28:c.G3700A:p.A1234T,MYH11:NM_022844:exon28:c.G3700A:p.A1234T,MYH11:NM_001040113:exon29:c.G3721A:p.A1241T,MYH11:NM_001040114:exon29:c.G3721A:p.A1241T 0.2 0.058 0.23 0.27 0.29 0.22 0.2457 0.0881 0.2571 0.3021 0.2647 0.2659 0.2247 0.2192 0.21 0.099 0.26 0.2 0.18 rs16967494 COSM3999722;COSM3999723 3(haematopoietic_and_lymphoid_tissue);13(soft_tissue);1(thyroid) Benign|other|Benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Lissencephaly\x2c_Recessive RCV000126941.4|RCV000253396.2|RCV000359456.1 MedGen|MedGen:Orphanet|MedGen CN169374|CN118826:ORPHA91387|CN239458 . . . . . . 0.256 0.168 T 0.053 0.211 B 0.025 0.193 B 0.000 0.466 D 0.021 0.395 P 1.005 0.253 L -1.15 0.780 T -0.85 0.232 N 0.007 0.051 -1.088 0.059 T 0.000 0.000 T . . . 2.980 0.418 22.2 0.979 0.365 0.390 0.259 N c -0.395 -0.263 0.270 0.189 0.615 0.372 0 4.68 0.582 0.566 0.231 0.932 0.445 0.069 0.218 0.993 0.574 12.121 0.530 Myosin tail ENSG00000263335.1|ENSG00000263335.1|ENSG00000263335.1|ENSG00000072864.8|ENSG00000263335.1|ENSG00000254852.4|ENSG00000072864.8|ENSG00000263335.1|ENSG00000263335.1|ENSG00000254852.4|ENSG00000072864.8|ENSG00000263335.1|ENSG00000263335.1|ENSG00000263335.1|ENSG00000072864.8|ENSG00000263335.1|ENSG00000263065.1 Brain_Caudate_basal_ganglia|Brain_Hippocampus|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Whole_Blood|Whole_Blood|Whole_Blood 0.2469 0.0812 0.256 0.1421 0.2993 0.2603 0.2736 0.2376 0.2186 0.2187 0.0831 0.2314 0.1490 0.2964 0.2539 0.2788 0.2649 het 2412.03 232 16 15820863 . C T 2412.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.196;DP=232;DS;Dels=0.00;FS=0.531;HRun=0;HaplotypeScore=5.7166;MQ=59.56;MQ0=0;MQRankSum=1.193;QD=10.40;ReadPosRankSum=-0.253;VQSLOD=4.9934;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:139,93:232:99:2442,0,3511 16 15839034 15839034 G A exonic MYH11 synonymous SNV MYH11:NM_002474:exon20:c.C2472T:p.A824A,MYH11:NM_022844:exon20:c.C2472T:p.A824A,MYH11:NM_001040113:exon21:c.C2493T:p.A831A,MYH11:NM_001040114:exon21:c.C2493T:p.A831A 0.25 0.11 0.27 0.35 0.34 0.24 0.2975 0.1361 0.2706 0.4117 0.3155 0.3237 0.2930 0.2454 0.26 0.15 0.32 0.27 0.27 rs1050113 COSM4415785;COSM4415786 1(haematopoietic_and_lymphoid_tissue);14(soft_tissue) Benign|other not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000126936.4|RCV000245386.2 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2992 0.1280 0.2746 0.2390 0.4062 0.3157 0.3303 0.2887 0.2473 0.2782 0.1352 0.2536 0.2616 0.4082 0.3073 0.3402 0.3133 het 1752.37 145 16 15839034 . G A 1752.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.508;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8605;MQ=58.02;MQ0=0;MQRankSum=-0.159;QD=12.09;ReadPosRankSum=0.849;VQSLOD=3.3408;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,71:145:99:1782,0,1705 16 15850204 15850204 A G exonic MYH11 synonymous SNV MYH11:NM_002474:exon14:c.T1743C:p.A581A,MYH11:NM_022844:exon14:c.T1743C:p.A581A,MYH11:NM_001040113:exon15:c.T1764C:p.A588A,MYH11:NM_001040114:exon15:c.T1764C:p.A588A 0.55 0.75 0.39 0.66 0.42 0.4 0.4437 0.6907 0.3427 0.7028 0.3956 0.4052 0.4256 0.3981 0.5 0.68 0.41 0.56 0.37 rs2272554 COSM4128737;COSM4128736 16(soft_tissue);1(thyroid) Benign|other not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection RCV000126931.4|RCV000250326.2 MedGen|MedGen:Orphanet CN169374|CN118826:ORPHA91387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4343 0.6919 0.3511 0.3912 0.7015 0.3888 0.4075 0.4041 0.3968 0.5053 0.6841 0.3453 0.4205 0.7153 0.3848 0.4232 0.4192 het 703.74 70 16 15850204 . A G 703.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DP=70;Dels=0.00;FS=2.296;HRun=1;HaplotypeScore=10.6415;MQ=58.62;MQ0=0;MQRankSum=-0.633;QD=10.05;ReadPosRankSum=0.556;VQSLOD=3.5185;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:734,0,824 16 16162019 16162019 T C exonic ABCC1 synonymous SNV ABCC1:NM_004996:exon13:c.T1684C:p.L562L 0.79 0.89 0.78 0.81 0.83 0.57 0.7932 0.8835 0.7771 0.7917 0.8427 0.8230 0.81 0.6101 0.85 0.89 0.83 0.74 0.79 rs35605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7921 0.8775 0.7774 0.7662 0.7901 0.8400 0.8267 0.7947 0.6142 0.8426 0.8776 0.7816 0.7384 0.8209 0.8288 0.8344 0.8259 het 1672.31 146 16 16162019 . T C 1672.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.018;DP=146;Dels=0.00;FS=1.451;HRun=2;HaplotypeScore=0.9832;MQ=59.26;MQ0=0;MQRankSum=-0.249;QD=11.45;ReadPosRankSum=0.253;VQSLOD=6.8264;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,60:146:99:1702,0,2511 16 16228242 16228242 G A exonic ABCC1 synonymous SNV ABCC1:NM_004996:exon28:c.G4002A:p.S1334S 0.18 0.067 0.29 0.12 0.29 0.18 0.2435 0.0953 0.3093 0.1166 0.3313 0.2782 0.24 0.1767 0.22 0.098 0.28 0.14 0.16 rs2230671 COSM3754707;COSM3754706 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2498 0.0913 0.3114 0.2237 0.1153 0.3317 0.2802 0.2499 0.1758 0.2258 0.0959 0.3103 0.2053 0.1081 0.3268 0.2822 0.2863 het 2576.31 177 16 16228242 . G A 2576.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.739;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7438;MQ=57.90;MQ0=0;MQRankSum=0.061;QD=14.56;ReadPosRankSum=-0.407;VQSLOD=5.1417;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,98:177:99:2606,0,1898 16 16251599 16251599 C T exonic ABCC6 nonsynonymous SNV ABCC6:NM_001171:exon27:c.G3803A:p.R1268Q 0.18 0.067 0.3 0.12 0.3 0.19 0.2446 0.1017 0.3097 0.1242 0.3466 0.2763 0.24 0.1833 0.22 0.11 0.28 0.15 0.15 rs2238472 COSM3754708 4(soft_tissue);1(thyroid);1(large_intestine) Pathogenic|Likely benign Pseudoxanthoma_elasticum|not_provided RCV000006948.3|RCV000132640.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0033847:264800:ORPHA758:252246005|CN221809 . . . . . . 0.352 0.122 T 0.106 0.245 B 0.007 0.121 B 0.018 0.275 N 0.036 0.384 P 1.06 0.271 L -2.69 0.905 D -1.88 0.439 N 0.043 0.222 -1.113 0.028 T 0.000 0.000 T . . . 3.384 0.465 23.0 0.975 0.339 0.114 0.164 N c -0.736 -0.659 0.012 0.122 0.615 0.372 0 2.01 0.254 0.194 0.168 -0.419 0.060 0.009 0.180 0.270 0.232 10.238 0.423 ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.2510 0.0983 0.3130 0.1701 0.1231 0.3455 0.2811 0.2402 0.1817 0.2347 0.1064 0.3026 0.1556 0.1173 0.3440 0.2903 0.2955 het 1039.04 71 16 16251599 . C T 1039.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.986;DP=71;Dels=0.00;FS=4.780;HRun=0;HaplotypeScore=0.0000;MQ=58.34;MQ0=0;MQRankSum=0.169;QD=14.63;ReadPosRankSum=0.239;VQSLOD=5.2067;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,41:71:99:1069,0,758 16 16271357 16271357 T C exonic ABCC6 nonsynonymous SNV ABCC6:NM_001171:exon19:c.A2542G:p.M848V 0.96 0.87 0.99 1. 1. 1. 0.9902 0.8956 0.9952 0.9969 1 0.9997 0.9956 0.9998 0.96 0.9 1. 0.96 0.98 rs6416668 . . . . . . . . . . . . . 0.261 0.165 T 0.0 0.026 B 0.0 0.013 B 0.615 0.057 N 1 0.090 P -0.075 0.048 N -2.59 0.898 D 1.03 0.014 N 0.049 0.051 -0.945 0.418 T 0.000 0.000 T . . . -1.406 0.019 0.003 0.378 0.025 0.008 0.033 N c -1.086 -0.970 0.001 0.078 0.497 0.185 0 1.01 0.190 1.463 0.347 -1.090 0.019 0.987 0.361 0.303 0.238 5.437 0.157 ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.9923 0.8925 0.9957 1 0.9972 1 0.9997 0.9951 0.9997 0.9716 0.9009 0.9964 1 0.9975 1 0.9997 0.9949 hom 4169.51 137 16 16271357 . T C 4169.51 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58.12;MQ0=0;QD=30.43;VQSLOD=8.1500;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4169,346,0 16 16272670 16272670 T C exonic ABCC6 synonymous SNV ABCC6:NM_001171:exon18:c.A2400G:p.G800G 0.96 0.87 0.99 1. 1. 1. 0.9905 0.8967 0.9952 1 1 0.9997 0.9956 0.9998 0.96 0.9 1. 0.96 0.89 rs7500834 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9925 0.8934 0.9957 1 1 1 0.9997 0.9951 0.9997 0.9721 0.9022 0.9964 1 1 1 0.9997 0.9949 hom 4534.72 133 16 16272670 . T C 4534.72 Mask AC=2;AF=1.00;AN=2;DP=133;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.3275;MQ=59.55;MQ0=0;QD=34.10;VQSLOD=9.2760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4534,355,0 16 16278863 16278863 G T exonic ABCC6 nonsynonymous SNV ABCC6:NM_001171:exon15:c.C1896A:p.H632Q 0.33 0.32 0.48 0.16 0.49 0.26 0.4152 0.3452 0.4765 0.1601 0.4528 0.4833 0.3965 0.2611 0.45 0.36 0.5 0.37 0.4 rs8058694 COSM5021873 1(bone) . . . . . . . . . . . 0.239 0.177 T 0.0 0.067 B 0.001 0.040 B 0.736 0.098 N 1 0.090 P -0.62 0.022 N -2.6 0.899 D -0.72 0.204 N 0.08 0.336 -1.004 0.289 T 0.000 0.000 T . . . -1.461 0.018 0.003 0.605 0.063 0.038 0.090 N c -1.675 -1.724 1.000 0.420 0.554 0.283 0 -8.99 0.006 -1.145 0.033 0.107 0.202 0.000 0.063 0.002 0.062 4.369 0.106 ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase ENSG00000091262.10|ENSG00000227827.3|ENSG00000091262.10 Adrenal_Gland|Nerve_Tibial|Thyroid 0.4193 0.3491 0.4701 0.4260 0.1585 0.4477 0.4899 0.4405 0.2626 0.4245 0.3500 0.4568 0.4133 0.1433 0.4355 0.4942 0.4278 hom 1874.84 63 16 16278863 . G T 1874.84 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.852;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=60.00;MQ0=0;MQRankSum=1.402;QD=29.76;ReadPosRankSum=0.577;VQSLOD=7.6655;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,62:63:99:1908,119,0 16 16278869 16278869 G C exonic ABCC6 synonymous SNV ABCC6:NM_001171:exon15:c.C1890G:p.T630T 0.33 0.32 0.48 0.16 0.49 0.26 0.4152 0.3452 0.4766 0.1600 0.4528 0.4833 0.3974 0.2612 0.45 0.36 0.5 0.37 0.37 rs8058696 COSM5021874 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4190 0.3489 0.4698 0.4260 0.1584 0.4472 0.4895 0.4401 0.2626 0.4246 0.3500 0.4568 0.4133 0.1431 0.4358 0.4943 0.4270 hom 1786.81 64 16 16278869 . G C 1786.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.624;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7257;MQ=59.64;MQ0=0;MQRankSum=-1.029;QD=27.92;ReadPosRankSum=0.650;VQSLOD=6.8825;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,63:64:99:1820,125,0 16 16281007 16281007 A G exonic ABCC6 nonsynonymous SNV ABCC6:NM_001171:exon14:c.T1841C:p.V614A 0.34 0.33 0.5 0.15 0.5 0.27 0.4261 0.3842 0.4848 0.1592 0.4632 0.4912 0.4191 0.2738 0.46 0.38 0.5 0.4 0.39 rs12931472 COSM3932234 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 0.536 0.069 T 0.0 0.026 B 0.0 0.013 B 0.422 0.129 N 1 0.090 P -1.705 0.003 N -2.56 0.896 D 2.02 0.004 N 0.123 0.363 -0.965 0.382 T 0.000 0.000 T . . . -0.742 0.043 0.058 0.487 0.040 0.020 0.059 N c -1.176 -1.110 0.025 0.137 0.657 0.484 0 3.85 0.434 1.293 0.327 -0.320 0.077 0.020 0.195 0.000 0.016 3.582 0.074 . ENSG00000091262.10|ENSG00000091262.10 Adrenal_Gland|Thyroid 0.4250 0.3765 0.4752 0.4404 0.1528 0.4509 0.4943 0.4523 0.2690 0.4370 0.3818 0.4617 0.4272 0.1422 0.4399 0.4993 0.4356 hom 1681.31 54 16 16281007 . A G 1681.31 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=31.14;VQSLOD=9.4991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1714,129,0 16 16291971 16291971 C T exonic ABCC6 synonymous SNV ABCC6:NM_001171:exon10:c.G1245A:p.V415V 0.23 0.25 0.31 0.097 0.32 0.21 0.3067 0.2764 0.2893 0.0962 0.3494 0.3572 0.2820 0.2319 0.31 0.25 0.34 0.21 0.28 rs9940825 COSM3754709 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2861 0.2562 0.2635 0.2168 0.0950 0.3069 0.3476 0.2934 0.2182 0.2922 0.2467 0.2613 0.24 0.0921 0.3010 0.3410 0.2914 het 312.76 46 16 16291971 . C T 312.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.193;DP=46;Dels=0.00;FS=5.382;HRun=0;HaplotypeScore=1.6988;MQ=58.99;MQ0=0;MQRankSum=0.789;QD=6.80;ReadPosRankSum=0.563;VQSLOD=4.4296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,13:46:99:343,0,822 16 16291983 16291983 A G exonic ABCC6 synonymous SNV ABCC6:NM_001171:exon10:c.T1233C:p.N411N 0.28 0.25 0.31 0.32 0.33 0.22 0.3384 0.2860 0.3123 0.3068 0.3837 0.3749 0.3178 0.2437 0.31 0.25 0.34 0.25 0.27 rs9930886 COSM3754710 1(breast);1(large_intestine) Likely benign not_provided RCV000132638.1 MedGen CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3093 0.2596 0.2699 0.2284 0.2907 0.3338 0.3565 0.3063 0.2271 0.3155 0.2536 0.2667 0.2583 0.3040 0.3265 0.3544 0.3108 het 314.69 40 16 16291983 . A G 314.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.405;DP=40;Dels=0.00;FS=1.595;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;MQRankSum=0.339;QD=7.87;ReadPosRankSum=-1.313;VQSLOD=5.8535;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,12:40:99:345,0,696 16 17202801 17202801 G A exonic XYLT1 synonymous SNV XYLT1:NM_022166:exon12:c.C2631T:p.P877P 0.1 0.0045 0.25 0.002 0.15 0.19 0.1691 0.0289 0.3701 0.0036 0.1592 0.1620 0.1690 0.2435 0.12 0.035 0.16 0.054 0.15 rs34511974 COSM1376157 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1743 0.0272 0.3498 0.1433 0.0037 0.1591 0.1610 0.1753 0.2273 0.1120 0.0304 0.2936 0.1523 0.0031 0.1591 0.1458 0.1663 het 1898.94 158 16 17202801 . G A 1898.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.745;DP=158;Dels=0.00;FS=0.594;HRun=0;HaplotypeScore=1.8245;MQ=59.50;MQ0=0;MQRankSum=-0.733;QD=12.02;ReadPosRankSum=-0.761;VQSLOD=5.7633;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,75:158:99:1929,0,2089 16 17228368 17228368 G A exonic XYLT1 synonymous SNV XYLT1:NM_022166:exon9:c.C1989T:p.A663A 0.37 0.19 0.53 0.1 0.65 0.46 0.5569 0.2669 0.5818 0.1115 0.7006 0.6520 0.5969 0.5103 0.53 0.28 0.65 0.3 0.68 rs12708815 COSM3999730 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5628 0.2583 0.5749 0.5995 0.1099 0.7132 0.6501 0.6016 0.5112 0.5135 0.2737 0.5513 0.5728 0.1064 0.7013 0.6424 0.6224 hom 5211.85 158 16 17228368 . G A 5211.85 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=59.50;MQ0=0;QD=32.99;VQSLOD=10.0172;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5211,409,0 16 17292074 17292074 G C exonic XYLT1 synonymous SNV XYLT1:NM_022166:exon5:c.C1284G:p.P428P 0.13 0.22 0.14 0.027 0.15 0.068 0.1400 0.2163 0.0666 0.0144 0.2095 0.1633 0.1267 0.0885 0.18 0.22 0.16 0.13 0.082 rs28709752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1364 0.2118 0.0744 0.1672 0.0143 0.2016 0.1613 0.1426 0.0881 0.1718 0.2177 0.0847 0.1887 0.0142 0.2002 0.1613 0.1548 het 641.59 70 16 17292074 . G C 641.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.752;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5508;MQ=58.86;MQ0=0;MQRankSum=1.363;QD=9.17;ReadPosRankSum=1.532;VQSLOD=5.9064;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,27:70:99:672,0,1211 16 18823379 18823379 T C exonic SMG1 synonymous SNV SMG1:NM_015092:exon61:c.A10692G:p.Q3564Q 0.99 1. 0.94 1. 1. 1. 0.9844 0.9979 0.8407 0.9992 1 0.9999 0.9922 1 1. 1. 1. 1. . rs2606556 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9792 0.9978 0.8511 1 0.9994 1 0.9999 0.9852 1 0.9963 0.9982 0.8914 1 0.9988 1 1 0.9929 hom 3402.22 105 16 18823379 . T C 3402.22 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;QD=32.40;VQSLOD=8.9688;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3402,265,0 16 18861335 18861335 A G exonic SMG1 synonymous SNV SMG1:NM_015092:exon35:c.T5397C:p.H1799H 0.52 0.73 0.56 0.22 0.53 0.48 0.5214 0.7256 0.4441 0.2198 0.5211 0.5498 0.4944 0.4970 0.62 0.73 0.56 0.5 . rs2650613 COSM3754733 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5167 0.7307 0.4558 0.6431 0.2269 0.5152 0.5450 0.5371 0.4930 0.5742 0.7165 0.5072 0.6523 0.2241 0.5049 0.5499 0.5369 het 951.01 62 16 18861335 . A G 951.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.239;DP=62;Dels=0.00;FS=3.712;HRun=0;HaplotypeScore=1.8937;MQ=59.30;MQ0=0;MQRankSum=1.064;QD=15.34;ReadPosRankSum=0.481;VQSLOD=6.2966;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,39:62:99:981,0,551 16 19548740 19548740 A G exonic CCP110 synonymous SNV CCP110:NM_001199022:exon4:c.A1749G:p.K583K,CCP110:NM_001323572:exon4:c.A1749G:p.K583K,CCP110:NM_001323577:exon4:c.A1749G:p.K583K,CCP110:NM_001323569:exon5:c.A1749G:p.K583K,CCP110:NM_001323576:exon5:c.A1749G:p.K583K,CCP110:NM_014711:exon5:c.A1749G:p.K583K,CCP110:NM_001323570:exon6:c.A1749G:p.K583K,CCP110:NM_001323571:exon6:c.A1749G:p.K583K 0.072 0.0023 0.12 0.15 0.058 0.076 0.0793 0.0164 0.1356 0.1294 0.0927 0.0695 0.0650 0.0880 0.053 0.019 0.07 0.054 0.057 rs17227190 COSM3999756 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455069.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0820 0.0150 0.1261 0.0348 0.1287 0.0942 0.0712 0.0800 0.0872 0.0661 0.0195 0.1229 0.0464 0.1216 0.0919 0.0781 0.0703 hom 4895.41 151 16 19548740 . A G 4895.41 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8650;MQ=58.71;MQ0=0;QD=32.42;VQSLOD=9.6188;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:151:99:4895,373,0 16 19883364 19883364 G A exonic GPRC5B synonymous SNV GPRC5B:NM_001304771:exon2:c.C1197T:p.N399N,GPRC5B:NM_016235:exon2:c.C804T:p.N268N 0.066 0.091 0.066 . 0.13 0.04 0.0983 0.0771 0.0614 0.0007 0.1266 0.1318 0.0906 0.0427 0.12 0.081 0.14 0.15 0.16 rs61742688 COSM3754754 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0971 0.0780 0.0574 0.1324 0.0005 0.1212 0.1333 0.1087 0.0420 0.1070 0.0760 0.0811 0.1026 0 0.1204 0.1339 0.1227 het 933.53 60 16 19883364 . G A 933.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.238;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;MQRankSum=0.146;QD=15.56;ReadPosRankSum=1.741;VQSLOD=5.8897;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,35:60:99:964,0,624 16 20043330 20043330 T C exonic GPR139 synonymous SNV GPR139:NM_001002911:exon2:c.A789G:p.V263V,GPR139:NM_001318483:exon3:c.A510G:p.V170V 0.52 0.6 0.41 0.78 0.33 0.4 0.3942 0.5583 0.3658 0.7890 0.4307 0.3174 0.4064 0.3991 0.39 0.54 0.3 0.56 0.27 rs2147865 COSM4128767 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3913 0.5570 0.3694 0.3057 0.7882 0.4211 0.3126 0.3693 0.4051 0.4196 0.5372 0.3888 0.3113 0.7877 0.4121 0.3193 0.3857 het 2096.17 140 16 20043330 . T C 2096.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.211;DP=140;Dels=0.00;FS=3.102;HRun=0;HaplotypeScore=9.1750;MQ=59.01;MQ0=0;MQRankSum=0.065;QD=14.97;ReadPosRankSum=-1.309;VQSLOD=4.1853;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,73:140:99:2126,0,1695 16 20328685 20328685 T C exonic GP2 synonymous SNV GP2:NM_001007242:exon7:c.A825G:p.Q275Q,GP2:NM_001007241:exon8:c.A834G:p.Q278Q,GP2:NM_001502:exon8:c.A1266G:p.Q422Q,GP2:NM_001007240:exon9:c.A1275G:p.Q425Q 0.24 0.052 0.3 0.11 0.44 0.38 0.3661 0.1094 0.2638 0.1053 0.4393 0.4447 0.3811 0.3879 0.33 0.13 0.44 0.22 0.47 rs1129818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3667 0.0996 0.2711 0.4078 0.1069 0.4491 0.4466 0.3798 0.3861 0.3287 0.1110 0.3082 0.3775 0.0977 0.4416 0.4486 0.4133 hom 3819.86 120 16 20328685 . T C 3819.86 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5254;MQ=58.70;MQ0=0;QD=31.83;VQSLOD=8.3018;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,119:120:99:3819,295,0 16 20370810 20370810 C T exonic PDILT nonsynonymous SNV PDILT:NM_174924:exon12:c.G1586A:p.G529E 0.35 0.4 0.35 0.15 0.47 0.37 0.4424 0.4069 0.3074 0.1223 0.4891 0.5175 0.4273 0.4058 0.47 0.41 0.5 0.4 0.53 rs9652588 COSM4415606 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.211 0.163 N 1 0.090 P -1.83 0.003 N 4.15 0.028 T 1.38 0.009 N 0.028 0.009 -0.970 0.373 T 0.000 0.000 T . . . -0.688 0.045 0.077 0.678 0.082 0.000 0.002 N c -1.471 -1.393 0.000 0.035 0.487 0.133 0 2.75 0.313 0.547 0.228 0.003 0.136 0.005 0.169 0.011 0.114 3.463 0.071 . ENSG00000169340.5 Testis 0.4346 0.4051 0.3151 0.4689 0.1241 0.5064 0.5127 0.4464 0.4053 0.4531 0.3999 0.3138 0.4570 0.1419 0.5075 0.5104 0.4928 het 2782.41 210 16 20370810 . C T 2782.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.700;DP=210;DS;Dels=0.00;FS=2.448;HRun=0;HaplotypeScore=4.3043;MQ=58.98;MQ0=1;MQRankSum=1.444;QD=13.25;ReadPosRankSum=-0.358;VQSLOD=5.7497;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,102:210:99:2812,0,3062 16 20370816 20370816 C T exonic PDILT nonsynonymous SNV PDILT:NM_174924:exon12:c.G1580A:p.R527K 0.36 0.42 0.35 0.15 0.47 0.37 0.4438 0.4187 0.3083 0.1223 0.4893 0.5180 0.4295 0.4058 0.47 0.42 0.5 0.4 0.54 rs9652589 COSM4415980 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.518 0.052 N 1 0.090 P -0.205 0.041 N 4.11 0.029 T 0.39 0.035 N 0.024 0.007 -0.959 0.395 T 0.000 0.000 T . . . -0.990 0.032 0.017 0.459 0.036 0.000 0.001 N c -1.680 -1.595 0.000 0.035 0.487 0.133 0 2.63 0.303 0.985 0.290 -0.289 0.083 0.002 0.151 0.000 0.016 5.706 0.171 . ENSG00000169340.5 Testis 0.4357 0.4167 0.3157 0.4759 0.1241 0.5063 0.5127 0.4477 0.4054 0.4571 0.4128 0.3162 0.4636 0.1421 0.5072 0.5106 0.4949 het 2694.42 199 16 20370816 . C T 2694.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.284;DP=199;DS;Dels=0.00;FS=1.123;HRun=1;HaplotypeScore=4.7281;MQ=59.04;MQ0=1;MQRankSum=3.466;QD=13.54;ReadPosRankSum=0.046;VQSLOD=4.0167;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:105,94:199:99:2724,0,3045 16 20376755 20376755 T C exonic PDILT synonymous SNV PDILT:NM_174924:exon9:c.A1224G:p.V408V 0.47 0.63 0.45 0.19 0.58 0.45 0.5394 0.5950 0.3664 0.1591 0.5495 0.6162 0.5209 0.5112 0.6 0.59 0.61 0.51 0.7 rs8054266 COSM4415031 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5293 0.5966 0.3785 0.5721 0.1621 0.5618 0.6150 0.5421 0.5155 0.5699 0.5879 0.4017 0.5828 0.1799 0.5605 0.6115 0.5873 het 2193.61 182 16 20376755 . T C 2193.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.539;DP=182;Dels=0.00;FS=4.305;HRun=0;HaplotypeScore=1.5775;MQ=59.42;MQ0=0;MQRankSum=0.505;QD=12.05;ReadPosRankSum=1.832;VQSLOD=5.9283;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,88:182:99:2224,0,2381 16 20410488 20410488 G A exonic PDILT synonymous SNV PDILT:NM_174924:exon2:c.C135T:p.L45L 0.35 0.46 0.39 0.15 0.31 0.4 0.3149 0.4319 0.4434 0.1635 0.3079 0.2797 0.3249 0.3750 0.33 0.42 0.29 0.33 0.21 rs7185940 COSM1749460 1(bone);1(haematopoietic_and_lymphoid_tissue);3(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3171 0.4288 0.4330 0.3106 0.1672 0.2977 0.2798 0.3128 0.3714 0.3210 0.4304 0.4260 0.3609 0.1669 0.2910 0.2766 0.2873 het 2550.70 181 16 20410488 . G A 2550.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.062;DP=181;Dels=0.00;FS=10.954;HRun=1;HaplotypeScore=4.5494;MQ=59.75;MQ0=0;MQRankSum=-0.878;QD=14.09;ReadPosRankSum=2.910;VQSLOD=2.9973;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,97:181:99:2581,0,2118 16 20410547 20410547 C T exonic PDILT nonsynonymous SNV PDILT:NM_174924:exon2:c.G76A:p.A26T 0.34 0.46 0.39 0.15 0.31 0.38 0.3127 0.4313 0.4432 0.1560 0.3080 0.2789 0.3245 0.3662 0.33 0.42 0.29 0.32 0.12 rs9926580 COSM5654308 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.487 0.081 T 0.007 0.131 B 0.001 0.040 B 0.353 0.043 N 1 0.090 P 0.205 0.094 N 4.08 0.173 T -0.42 0.142 N 0.385 0.445 -0.931 0.441 T 0.000 0.000 T . . . -0.417 0.060 0.352 0.798 0.125 0.004 0.019 N c -1.669 -1.704 0.195 0.180 0.554 0.246 0 -2.28 0.064 -5.744 0.001 -1.196 0.016 0.000 0.063 0.000 0.016 3.817 0.083 . . . 0.3150 0.4284 0.4329 0.3010 0.1598 0.2978 0.2796 0.3122 0.3630 0.3199 0.4309 0.4260 0.3510 0.1517 0.2911 0.2761 0.2857 het 2687.91 208 16 20410547 . C T 2687.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.838;DP=208;Dels=0.00;FS=8.180;HRun=0;HaplotypeScore=6.5955;MQ=59.68;MQ0=0;MQRankSum=-0.128;QD=12.92;ReadPosRankSum=0.306;VQSLOD=4.5954;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,108:208:99:2718,0,2385 16 20552075 20552075 G T exonic ACSM2B synonymous SNV ACSM2B:NM_001105069:exon13:c.C1530A:p.I510I,ACSM2B:NM_182617:exon14:c.C1530A:p.I510I 0.71 0.81 0.84 0.42 0.8 0.67 0.7775 0.7877 0.8187 0.4421 0.7938 0.8239 0.7687 0.7239 0.81 0.79 0.83 0.71 0.76 rs16970280 COSM4419581 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7805 0.7825 0.8171 0.8791 0.4484 0.7946 0.8238 0.8011 0.7228 0.7866 0.7786 0.8297 0.89 0.4788 0.7828 0.8200 0.7984 hom 6360.86 210 16 20552075 . G T 6360.86 Mask AC=2;AF=1.00;AN=2;DP=210;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4865;MQ=53.65;MQ0=1;QD=30.29;VQSLOD=4.0018;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,209:210:99:6360,518,0 16 20811681 20811681 C T exonic ERI2 synonymous SNV ERI2:NM_001142725:exon6:c.G504A:p.K168K,ERI2:NM_080663:exon6:c.G504A:p.K168K 0.63 0.65 0.63 0.44 0.72 0.71 0.6823 0.6549 0.5089 0.4765 0.7610 0.7361 0.6689 0.6806 0.71 0.66 0.73 0.6 0.8 rs2301771 COSM3999768;COSM3999767 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6728 0.6502 0.5097 0.6617 0.4844 0.7548 0.7356 0.6876 0.6793 0.6964 0.6587 0.5336 0.6391 0.4770 0.7556 0.7376 0.7084 het 814.56 90 16 20811681 . C T 814.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.322;DP=90;Dels=0.00;FS=5.428;HRun=3;HaplotypeScore=0.8941;MQ=58.49;MQ0=0;MQRankSum=-0.344;QD=9.05;ReadPosRankSum=-1.451;VQSLOD=4.2932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,37:90:99:845,0,1397 16 20855309 20855309 A G exonic REXO5 synonymous SNV REXO5:NM_001199053:exon16:c.A1680G:p.E560E,REXO5:NM_030941:exon16:c.A1680G:p.E560E 0.82 0.66 0.89 0.87 0.91 0.87 0.8795 0.6908 0.8833 0.8752 0.9492 0.9094 0.8833 0.8491 0.83 0.7 0.9 0.81 0.89 rs9929443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8817 0.6855 0.8844 0.8249 0.8755 0.9502 0.9085 0.8839 0.8503 0.8550 0.6976 0.8864 0.8179 0.8824 0.9554 0.9159 0.9041 hom 4183 134 16 20855309 . A G 4183 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;QD=31.22;VQSLOD=9.0876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4183,322,0 16 20873767 20873767 T G exonic DCUN1D3 synonymous SNV DCUN1D3:NM_173475:exon2:c.A94C:p.R32R 0.56 0.48 0.62 0.38 0.71 0.66 0.6484 0.5019 0.4958 0.3758 0.7570 0.7253 0.6388 0.6367 0.65 0.51 0.72 0.53 0.7 rs7187522 COSM3999769 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6418 0.4933 0.4991 0.6362 0.3833 0.7495 0.7254 0.6579 0.6354 0.6403 0.5041 0.5179 0.6126 0.3591 0.75 0.7289 0.6814 het 2865.19 248 16 20873767 . T G 2865.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.041;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5200;MQ=59.10;MQ0=1;MQRankSum=1.173;QD=11.55;ReadPosRankSum=0.486;VQSLOD=4.8099;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,112:248:99:2895,0,3765 16 21078693 21078693 T G exonic DNAH3 synonymous SNV DNAH3:NM_001347886:exon24:c.A3291C:p.A1097A,DNAH3:NM_017539:exon24:c.A3429C:p.A1143A 0.44 0.38 0.37 0.68 0.42 0.36 0.4390 0.3676 0.4936 0.6667 0.4605 0.4073 0.4813 0.4440 0.41 0.41 0.41 0.47 0.35 rs861424 COSM5021877;COSM5021878 1(bone) Benign not_specified RCV000455478.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4449 0.3647 0.4866 0.4432 0.6662 0.4638 0.4061 0.4328 0.4447 0.4304 0.3590 0.4749 0.4901 0.6706 0.4599 0.4350 0.4375 het 1350.90 124 16 21078693 . T G 1350.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.353;DP=124;Dels=0.00;FS=2.576;HRun=1;HaplotypeScore=6.3722;MQ=58.94;MQ0=0;MQRankSum=0.038;QD=10.89;ReadPosRankSum=-1.614;VQSLOD=4.2632;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,58:124:99:1381,0,1755 16 21190853 21190853 A C exonic TMEM159 nonsynonymous SNV TMEM159:NM_001301771:exon5:c.A462C:p.E154D,TMEM159:NM_020422:exon5:c.A462C:p.E154D,TMEM159:NM_001301769:exon6:c.A462C:p.E154D,TMEM159:NM_001301775:exon6:c.A534C:p.E178D 0.9 0.98 0.84 1. 0.74 0.89 0.8086 0.9539 0.9027 0.9991 0.7333 0.7356 0.7974 0.8770 0.8 0.94 0.73 0.92 0.74 rs1063087 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.884 0.087 N 1 0.090 P -1.1 0.010 N 1.9 0.243 T 0.45 0.041 N 0.019 0.004 -0.998 0.306 T 0.000 0.000 T . . . -1.511 0.017 0.003 0.050 0.000 0.002 0.011 N c -1.673 -1.616 0.003 0.100 0.707 0.730 0 -1.46 0.083 -0.115 0.106 -1.512 0.010 0.000 0.063 0.003 0.074 6.033 0.188 . ENSG00000011638.6 Cells_Transformed_fibroblasts 0.8091 0.9580 0.8992 0.7841 0.9994 0.7289 0.7337 0.7802 0.8750 0.8234 0.9518 0.8816 0.7881 0.9981 0.7328 0.7512 0.7770 hom 4100.98 128 16 21190853 . A C 4100.98 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8914;MQ=59.66;MQ0=0;QD=32.04;VQSLOD=9.2568;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4101,316,0 16 21272591 21272591 G C exonic CRYM synonymous SNV CRYM:NM_001888:exon9:c.C864G:p.T288T 0.5 0.83 0.42 0.3 0.4 0.44 0.4500 0.7745 0.3414 0.3036 0.4826 0.4319 0.4680 0.4573 0.53 0.76 0.42 0.51 0.44 rs14122 . . Benign not_specified RCV000037221.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4420 0.7879 0.3639 0.4721 0.3009 0.4793 0.4248 0.4305 0.4622 0.5166 0.7784 0.3876 0.4503 0.2799 0.4784 0.4112 0.4560 het 890.73 104 16 21272591 . G C 890.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.925;DP=104;Dels=0.00;FS=5.084;HRun=1;HaplotypeScore=1.7333;MQ=59.36;MQ0=0;MQRankSum=0.057;QD=8.56;ReadPosRankSum=-1.106;VQSLOD=5.3787;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,40:104:99:921,0,1654 16 22137603 22137603 G A exonic VWA3A nonsynonymous SNV VWA3A:NM_173615:exon17:c.G1637A:p.C546Y 0.093 0.19 0.079 0.051 0.063 0.045 0.0714 0.1741 0.0412 0.0453 0.0479 0.0728 0.0791 0.0486 0.11 0.17 0.077 0.11 . rs55732851 COSM3754784 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.564 0.054 N 1.000 0.334 P 0.11 0.085 N 2.04 0.208 T 1.14 0.013 N 0.027 0.470 -0.997 0.307 T 0.000 0.000 T . . . -2.926 0.001 0.001 0.349 0.022 0.035 0.085 N c -2.141 -2.182 1.000 0.747 0.497 0.185 0 -9.94 0.004 -1.866 0.017 -2.488 0.003 0.000 0.063 0.646 0.298 0.420 0.004 von Willebrand factor\x2c type A . . 0.0695 0.1806 0.0437 0.0967 0.0470 0.0462 0.0736 0.0777 0.0471 0.0955 0.1843 0.0525 0.1192 0.0426 0.0384 0.0670 0.0612 het 1941.08 179 16 22137603 . G A 1941.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.003;DP=179;DS;Dels=0.00;FS=1.276;HRun=0;HaplotypeScore=9.6379;MQ=59.42;MQ0=0;MQRankSum=1.021;QD=10.84;ReadPosRankSum=-0.496;VQSLOD=3.9512;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,74:179:99:1971,0,2925 16 22149688 22149688 T C exonic VWA3A nonsynonymous SNV VWA3A:NM_173615:exon22:c.T2147C:p.F716S 0.003 0.0008 0.0043 . 0.0089 0.002 0.0132 0.0029 0.0184 0 0.0088 0.0200 0.0087 0.0042 0.0084 0.002 0.011 . . rs145806753 . . . . . . . . . . . . . 0.007 0.654 D 0.259 0.297 B 0.081 0.275 B 0.530 0.052 N 1 0.810 D 1.355 0.339 L 2.26 0.437 T -2.31 0.711 N 0.078 0.524 -1.053 0.136 T 0.026 0.110 T . . . 4.098 0.550 23.7 0.995 0.657 0.696 0.340 D c -0.027 0.099 0.000 0.072 0.497 0.185 0 4.21 0.488 3.379 0.519 1.061 0.807 0.952 0.329 0.919 0.394 8.890 0.344 . . . 0.0074 0.0032 0.0078 0.0036 0 0.0045 0.0113 0.0096 0.0025 0.0072 0.0026 0.0132 0 0 0.0034 0.0112 0.0072 het 279.52 18 16 22149688 . T C 279.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.047;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.609;QD=15.53;ReadPosRankSum=-0.983;VQSLOD=10.5565;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,12:18:99:310,0,149 16 22155629 22155629 A G exonic VWA3A nonsynonymous SNV VWA3A:NM_173615:exon26:c.A2654G:p.N885S 0.37 0.53 0.15 0.6 0.16 0.29 0.2350 0.4717 0.1194 0.5403 0.1631 0.1704 0.2257 0.3064 0.26 0.44 0.17 0.36 . rs9937453 COSM3754785;COSM3754786 1(large_intestine) . . . . . . . . . . . 0.416 0.099 T 0.007 0.131 B 0.001 0.040 B 0.785 0.067 N 1.000 0.588 P 0.685 0.165 N 2.73 0.119 T -1.31 0.328 N 0.004 0.000 -0.938 0.429 T 0.000 0.000 T . . . -0.324 0.067 0.586 0.859 0.157 0.072 0.131 N c -1.105 -1.054 0.000 0.029 0.487 0.133 0 -1.42 0.084 0.742 0.257 -1.717 0.007 0.004 0.165 0.002 0.062 9.750 0.394 . . . 0.2278 0.4795 0.1275 0.1666 0.5500 0.1586 0.1732 0.2010 0.3050 0.2813 0.4844 0.1384 0.1921 0.5435 0.1561 0.1781 0.2189 het 924.66 66 16 22155629 . A G 924.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.133;DP=66;Dels=0.00;FS=1.088;HRun=0;HaplotypeScore=1.7998;MQ=59.30;MQ0=0;MQRankSum=2.248;QD=14.01;ReadPosRankSum=-0.385;VQSLOD=6.0509;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,35:66:99:955,0,798 16 22161136 22161136 T C exonic VWA3A nonsynonymous SNV VWA3A:NM_173615:exon29:c.T3013C:p.F1005L 0.96 1. 0.93 0.88 1. 0.99 0.9705 0.9985 0.8346 0.8582 0.9955 0.9963 0.9742 0.9932 1. 1. 1. 0.96 . rs1991020 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.365 0.136 N 1 0.090 P -1.425 0.006 N 3.2 0.073 T 2.2 0.003 N 0.025 0.011 -1.039 0.176 T 0.000 0.000 T . . . -0.473 0.057 0.257 0.374 0.025 0.013 0.045 N c -1.185 -1.047 0.000 0.029 0.487 0.133 0 2.21 0.269 0.855 0.273 0.069 0.176 0.614 0.276 0.356 0.247 3.520 0.072 von Willebrand factor\x2c type A . . 0.9658 0.9982 0.8477 0.9837 0.8581 0.9943 0.9975 0.9766 0.9928 0.9864 0.9983 0.8852 0.9801 0.8527 0.9943 0.9981 0.9827 hom 2021.28 60 16 22161136 . T C 2021.28 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=53.95;MQ0=0;QD=33.69;VQSLOD=7.7169;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2054,165,0 16 22262514 22262514 C A exonic EEF2K synonymous SNV EEF2K:NM_013302:exon6:c.C489A:p.G163G 0.52 0.56 0.34 0.89 0.28 0.47 0.3754 0.5048 0.3405 0.8745 0.2336 0.2983 0.3896 0.4239 0.37 0.51 0.3 0.45 0.25 rs2303186 COSM4128812;COSM4128811 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3713 0.5039 0.3415 0.4095 0.8759 0.2340 0.2949 0.3599 0.4201 0.3749 0.4910 0.3529 0.4338 0.8727 0.2151 0.2933 0.3351 het 2379.02 182 16 22262514 . C A 2379.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.055;DP=182;DS;Dels=0.00;FS=7.078;HRun=0;HaplotypeScore=4.0021;MQ=59.67;MQ0=0;MQRankSum=-1.300;QD=13.07;ReadPosRankSum=-0.936;VQSLOD=4.2867;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,88:182:99:2409,0,2203 16 22269867 22269867 A G exonic EEF2K nonsynonymous SNV EEF2K:NM_013302:exon10:c.A1082G:p.Q361R 1. 1. 1. 1. 1. 1. 0.9999 0.9995 0.9999 1 1 0.9999 1 0.9999 1. 1. 1. 1. 1. rs4783453 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -0.695 0.019 N 1.58 0.291 T 1.32 0.009 N 0.04 0.287 -0.945 0.419 T 0.000 0.000 T . . . 0.475 0.140 7.234 0.250 0.011 0.183 0.200 N c -0.894 -0.654 0.011 0.122 0.745 0.986 0 3.78 0.425 4.790 0.619 0.138 0.222 1.000 0.715 0.694 0.308 9.926 0.405 . . . 0.9999 0.9996 1.0000 1 1 1 0.9999 0.9996 1.0000 0.9998 0.9993 1 1 1 1 1 0.9990 hom 3554.36 114 16 22269867 . A G 3554.36 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;QD=31.18;VQSLOD=9.3473;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3554,301,0 16 22545744 22545755 TCCACCCTCAGC - exonic NPIPB5 nonframeshift deletion NPIPB5:NM_001135865:exon7:c.1440_1451del:p.P485_A488del . . . . . . 0.0082 0.0129 0.0036 0.0043 0.0034 0.0074 0.0133 0.0154 0.0069 0.0092 0.0055 . . rs772371465 COSM1376734;COSM1376735 3(NS);1(skin);1(thyroid);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 7.799e-05 0 0.0001 0 0 0.0002 0 0.0001 0.0192 0.0677 0 0 0.0667 0.0015 0.0360 0 het 7380.86 134 16 22545743 . TTCCACCCTCAGC T 7380.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.765;DP=134;DS;FS=45.062;HRun=0;HaplotypeScore=1203.0150;MQ=33.17;MQ0=106;MQRankSum=7.555;QD=29.52;ReadPosRankSum=1.189;set=variant2 GT:AD:DP:GQ:PL 0/1:152,98:134:99:7381,0,4664 16 22826339 22826339 A G exonic HS3ST2 synonymous SNV HS3ST2:NM_006043:exon1:c.A408G:p.V136V 0.41 0.54 0.47 0.36 0.37 0.29 0.4036 0.5193 0.5062 0.3823 0.4588 0.3858 0.3984 0.3282 0.42 0.51 0.37 0.39 0.39 rs208951 COSM3765873 1(liver);3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4020 0.5110 0.4958 0.3787 0.3736 0.4506 0.3761 0.3896 0.3300 0.4352 0.5121 0.4714 0.3841 0.3261 0.4453 0.3995 0.4243 het 296.40 28 16 22826339 . A G 296.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.132;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.81;MQ0=0;MQRankSum=-1.428;QD=10.59;ReadPosRankSum=-1.658;VQSLOD=5.1401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:326,0,395 16 23080634 23080634 C A exonic USP31 nonsynonymous SNV USP31:NM_020718:exon16:c.G2792T:p.R931L 0.15 0.12 0.19 0.055 0.3 0.087 0.2319 0.1536 0.1177 0.0601 0.2772 0.3052 0.2683 0.1195 0.26 0.15 0.31 0.2 0.3 rs10083789 COSM3754799 1(large_intestine) . . . . . . . . . . . 0.006 0.614 D 0.977 0.581 D 0.691 0.520 P 0.102 0.198 N 1.000 0.196 P 1.78 0.463 L 2.95 0.280 T -1.69 0.402 N 0.184 0.481 -0.829 0.534 T 0.000 0.000 T . . . 4.050 0.544 23.7 0.997 0.802 0.836 0.424 D c 0.183 0.173 1.000 0.431 0.563 0.310 0 5.07 0.680 1.896 0.392 0.935 0.490 0.929 0.320 0.992 0.562 14.489 0.671 . . . 0.2297 0.1524 0.1269 0.2479 0.0613 0.2781 0.3170 0.2499 0.1136 0.2496 0.1576 0.1411 0.2318 0.0568 0.2798 0.3220 0.2729 het 1773.67 136 16 23080634 . C A 1773.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.786;DP=136;Dels=0.00;FS=4.309;HRun=0;HaplotypeScore=6.9242;MQ=59.20;MQ0=0;MQRankSum=1.300;QD=13.04;ReadPosRankSum=0.997;VQSLOD=4.7292;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,67:136:99:1804,0,1637 16 23098422 23098422 A G exonic USP31 nonsynonymous SNV USP31:NM_020718:exon9:c.T1613C:p.I538T 0.24 0.15 0.39 0.16 0.33 0.25 0.3041 0.1739 0.4499 0.1649 0.3748 0.3159 0.3278 0.2758 0.27 0.18 0.32 0.17 0.35 rs13339649 COSM4419537 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.384 N 1 0.090 P -1.255 0.008 N 3.38 0.058 T 1.93 0.004 N 0.018 0.003 -0.935 0.434 T 0.000 0.000 T . . . -0.036 0.090 2.252 0.185 0.006 0.063 0.122 N c -0.830 -0.624 1.000 0.747 0.732 0.924 0 5.16 0.704 6.457 0.732 0.100 0.199 1.000 0.715 0.994 0.587 13.027 0.581 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain ENSG00000103404.10|ENSG00000166828.2|ENSG00000103404.10|ENSG00000103404.10|ENSG00000103404.10|ENSG00000261090.1|ENSG00000103404.10|ENSG00000260566.2 Artery_Tibial|Brain_Cerebellum|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Testis|Testis|Testis 0.3084 0.1621 0.4360 0.3089 0.1681 0.3682 0.3098 0.3148 0.2713 0.2788 0.1633 0.4117 0.3212 0.1726 0.3494 0.3304 0.3173 het 1023.41 79 16 23098422 . A G 1023.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.266;DP=79;Dels=0.00;FS=1.260;HRun=0;HaplotypeScore=0.9992;MQ=58.19;MQ0=0;MQRankSum=0.940;QD=12.95;ReadPosRankSum=0.349;VQSLOD=5.7001;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,36:79:99:1053,0,1206 16 23200761 23200761 T C exonic SCNN1G synonymous SNV SCNN1G:NM_001039:exon3:c.T387C:p.Y129Y 0.24 0.13 0.39 0.17 0.34 0.25 0.3023 0.1602 0.4450 0.1690 0.3738 0.3166 0.3282 0.2730 0.27 0.17 0.32 0.16 0.35 rs5734 COSM4415764 4(haematopoietic_and_lymphoid_tissue);2(large_intestine) Benign|Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_Type_I\x2c_Recessive|Pseudoprimary_hyperaldosteronism RCV000151819.2|RCV000328934.1|RCV000383542.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239471|C0221043:177200:ORPHA526:71275003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3095 0.1543 0.4369 0.3049 0.1717 0.3661 0.3135 0.3164 0.2696 0.2764 0.1508 0.4069 0.3212 0.1792 0.3489 0.3324 0.3189 het 1675.52 159 16 23200761 . T C 1675.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.518;DP=159;Dels=0.00;FS=0.590;HRun=0;HaplotypeScore=4.5510;MQ=58.09;MQ0=0;MQRankSum=0.144;QD=10.54;ReadPosRankSum=0.791;VQSLOD=4.9353;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,69:159:99:1706,0,2394 16 23200848 23200848 T C exonic SCNN1G synonymous SNV SCNN1G:NM_001039:exon3:c.T474C:p.I158I 0.24 0.13 0.39 0.17 0.34 0.25 0.3018 0.1593 0.4449 0.1689 0.3735 0.3161 0.3282 0.2725 0.27 0.17 0.32 0.16 0.35 rs5735 COSM4128821 1(breast);4(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign|Benign not_specified|Pseudoprimary_hyperaldosteronism|Pseudohypoaldosteronism\x2c_Type_I\x2c_Recessive RCV000151820.2|RCV000300778.1|RCV000355585.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0221043:177200:ORPHA526:71275003|CN239471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3095 0.1542 0.4370 0.3051 0.1718 0.3661 0.3136 0.3166 0.2694 0.2768 0.1506 0.4055 0.3212 0.1794 0.3492 0.3332 0.3173 het 4168.20 249 16 23200848 . T C 4168.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.085;DP=249;DS;Dels=0.00;FS=10.617;HRun=2;HaplotypeScore=7.0993;MQ=58.91;MQ0=0;MQRankSum=0.728;QD=16.74;ReadPosRankSum=-0.687;VQSLOD=3.6754;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,125:249:99:3492,0,3218 16 23226787 23226787 C G exonic SCNN1G synonymous SNV SCNN1G:NM_001039:exon13:c.C1947G:p.L649L 0.15 0.25 0.14 0.059 0.22 0.058 0.1789 0.2564 0.0859 0.0621 0.2276 0.2180 0.2013 0.0801 0.23 0.25 0.22 0.2 0.2 rs5723 . . Benign|Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_Type_I\x2c_Recessive|Pseudoprimary_hyperaldosteronism RCV000151824.2|RCV000309769.1|RCV000348242.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239471|C0221043:177200:ORPHA526:71275003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1743 0.2544 0.0964 0.2319 0.0626 0.2295 0.2155 0.1860 0.0807 0.2244 0.2466 0.1289 0.2252 0.0649 0.2261 0.2329 0.2342 het 1117.59 117 16 23226787 . C G 1117.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.132;DP=117;Dels=0.00;FS=1.532;HRun=0;HaplotypeScore=3.3196;MQ=59.48;MQ0=0;MQRankSum=0.350;QD=9.55;ReadPosRankSum=-0.356;VQSLOD=5.5570;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,45:117:99:1148,0,1928 16 23360199 23360199 T C exonic SCNN1B synonymous SNV SCNN1B:NM_000336:exon2:c.T279C:p.P93P 0.79 0.97 0.46 0.98 0.54 0.83 0.6355 0.9115 0.4403 0.9830 0.5017 0.5560 0.6256 0.7912 0.66 0.89 0.55 0.74 0.57 rs238547 . . Benign|Benign|Benign|Benign not_specified|Pseudohypoaldosteronism\x2c_Type_I\x2c_Recessive|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Pseudoprimary_hyperaldosteronism RCV000151814.3|RCV000266524.1|RCV000307100.1|RCV000361247.1 MedGen|MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239471|CN029847:211400|C0221043:177200:ORPHA526:71275003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6193 0.9158 0.4340 0.5829 0.9835 0.5009 0.5576 0.6091 0.7903 0.6591 0.9082 0.4344 0.5662 0.9845 0.5086 0.5355 0.5553 het 1959.33 191 16 23360199 . T C 1959.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.269;DP=191;Dels=0.00;FS=5.150;HRun=3;HaplotypeScore=5.8954;MQ=58.71;MQ0=0;MQRankSum=1.794;QD=10.26;ReadPosRankSum=-2.840;VQSLOD=3.2126;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,83:191:99:1989,0,2929 16 23489711 23489711 C G exonic GGA2 nonsynonymous SNV GGA2:NM_015044:exon13:c.G1270C:p.A424P 0.68 0.52 0.72 0.7 0.81 0.69 0.7564 0.5769 0.7472 0.6863 0.7485 0.8049 0.7456 0.7191 0.73 0.58 0.81 0.65 0.64 rs1135045 COSM5941388 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.520 0.052 N 1 0.282 P -1.04 0.011 N 2.51 0.143 T 1.11 0.012 N 0.052 0.034 -1.004 0.287 T 0.000 0.000 T . . . 0.612 0.152 8.240 0.424 0.031 0.023 0.065 N c -1.179 -1.016 0.003 0.095 0.707 0.730 0 2.1 0.261 0.685 0.249 0.136 0.221 0.930 0.320 0.129 0.199 6.247 0.199 . ENSG00000166847.5|ENSG00000166847.5|ENSG00000166847.5|ENSG00000166847.5|ENSG00000103365.11|ENSG00000166847.5|ENSG00000168434.8|ENSG00000103356.11|ENSG00000166847.5|ENSG00000166847.5|ENSG00000168434.8|ENSG00000166847.5|ENSG00000166847.5|ENSG00000103356.11|ENSG00000166847.5|ENSG00000166847.5|ENSG00000260136.1|ENSG00000166847.5|ENSG00000166847.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.7556 0.5741 0.7458 0.7838 0.6891 0.7482 0.8064 0.7588 0.7072 0.7265 0.5872 0.7542 0.7848 0.6906 0.7527 0.8003 0.7607 het 2611.97 169 16 23489711 . C G 2611.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.619;DP=169;Dels=0.00;FS=2.695;HRun=1;HaplotypeScore=3.6628;MQ=59.03;MQ0=0;MQRankSum=0.775;QD=15.46;ReadPosRankSum=0.833;VQSLOD=5.5974;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,93:169:99:2642,0,2121 16 23536684 23536684 T C exonic EARS2 nonsynonymous SNV EARS2:NM_001083614:exon8:c.A1369G:p.S457G,EARS2:NM_001308211:exon8:c.A1369G:p.S457G 0.8 0.81 0.87 0.72 0.85 0.78 0.8306 0.8306 0.8542 0.7088 0.7793 0.8558 0.8289 0.7967 0.85 0.83 0.86 0.81 0.89 rs6497671 . . Benign|Benign not_specified|Combined_oxidative_phosphorylation_deficiency RCV000124861.1|RCV000273802.1 MedGen|MedGen:Orphanet CN169374|CN201731:ORPHA2443 . . . . . . 0.456 0.088 T 0.0 0.026 B 0.0 0.013 B 0.231 0.159 N 1 0.090 P -0.895 0.014 N 0.97 0.425 T 0.07 0.061 N 0.014 0.011 -1.029 0.207 T 0.000 0.000 T . . . -0.488 0.056 0.235 0.708 0.091 0.002 0.014 N c -1.434 -1.355 0.077 0.158 0.707 0.730 0 0.794 0.177 -0.758 0.048 -1.653 0.008 0.000 0.063 0.000 0.016 8.869 0.343 Aminoacyl-tRNA synthetase\x2c class I\x2c anticodon-binding;Aminoacyl-tRNA synthetase\x2c class I\x2c anticodon-binding|Aminoacyl-tRNA synthetase\x2c class I\x2c anticodon-binding domain\x2c subdomain 2 ENSG00000166847.5|ENSG00000103356.11|ENSG00000103356.11|ENSG00000103356.11|ENSG00000103356.11|ENSG00000103365.11|ENSG00000166847.5|ENSG00000168434.8|ENSG00000103356.11|ENSG00000103356.11|ENSG00000166847.5|ENSG00000103356.11|ENSG00000166847.5|ENSG00000103356.11|ENSG00000166847.5|ENSG00000103356.11|ENSG00000166847.5|ENSG00000166847.5|ENSG00000166847.5|ENSG00000103356.11|ENSG00000260136.1|ENSG00000166847.5|ENSG00000166847.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Whole_Blood 0.8296 0.8323 0.8516 0.8932 0.7108 0.7785 0.8546 0.8418 0.7946 0.8285 0.8355 0.8616 0.9073 0.7115 0.7812 0.8449 0.8248 het 2410.54 152 16 23536684 . T C 2410.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.640;DP=152;Dels=0.00;FS=2.077;HRun=1;HaplotypeScore=2.8633;MQ=59.02;MQ0=0;MQRankSum=0.737;QD=15.86;ReadPosRankSum=-0.480;VQSLOD=6.2665;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,88:152:99:2441,0,1653 16 23546561 23546561 G C exonic EARS2 synonymous SNV EARS2:NM_001083614:exon4:c.C606G:p.V202V,EARS2:NM_001308211:exon4:c.C606G:p.V202V 0.8 0.81 0.87 0.72 0.85 0.79 0.8308 0.8308 0.8540 0.7103 0.7787 0.8561 0.8285 0.7961 0.85 0.84 0.86 0.81 0.85 rs2073951 COSM4128826 1(thyroid) Benign|Benign not_specified|Combined_oxidative_phosphorylation_deficiency RCV000124858.1|RCV000297010.1 MedGen|MedGen:Orphanet CN169374|CN201731:ORPHA2443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8298 0.8324 0.8513 0.8933 0.7108 0.7791 0.8546 0.8414 0.7953 0.8277 0.8345 0.8616 0.9073 0.7109 0.7813 0.8440 0.8228 het 1724.85 114 16 23546561 . G C 1724.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.003;DP=114;Dels=0.00;FS=0.721;HRun=0;HaplotypeScore=5.0755;MQ=59.02;MQ0=0;MQRankSum=-1.014;QD=15.13;ReadPosRankSum=1.465;VQSLOD=4.0418;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,63:114:99:1755,0,1420 16 23563501 23563501 C T exonic EARS2 synonymous SNV EARS2:NM_001083614:exon2:c.G264A:p.A88A,EARS2:NM_001308211:exon2:c.G264A:p.A88A 0.67 0.51 0.72 0.7 0.81 0.69 0.7561 0.5648 0.7481 0.6881 0.7499 0.8058 0.7472 0.7124 0.73 0.58 0.81 0.65 0.79 rs7187920 COSM5021879 1(bone) Benign|Benign not_specified|Combined_oxidative_phosphorylation_deficiency RCV000124866.1|RCV000277874.1 MedGen|MedGen:Orphanet CN169374|CN201731:ORPHA2443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7570 0.5626 0.7466 0.7839 0.6907 0.7487 0.8087 0.7615 0.7109 0.7262 0.5827 0.7596 0.7848 0.6933 0.7539 0.8013 0.7622 het 4088.63 249 16 23563501 . C T 4088.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.363;DP=249;DS;Dels=0.00;FS=5.216;HRun=0;HaplotypeScore=4.3087;MQ=59.50;MQ0=0;MQRankSum=-1.250;QD=16.42;ReadPosRankSum=0.264;VQSLOD=4.4134;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:116,133:249:99:3504,0,2827 16 23607504 23607504 G C exonic NDUFAB1 synonymous SNV NDUFAB1:NM_005003:exon1:c.C108G:p.L36L 0.13 0.2 0.062 0.17 0.074 0.073 0.0928 0.1934 0.0637 0.1848 0.1037 0.0747 0.0935 0.0773 0.1 0.17 0.07 0.087 0.049 rs466719 COSM434928 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0866 0.1741 0.0656 0.0404 0.1750 0.0984 0.0729 0.0824 0.0759 0.1113 0.1756 0.0706 0.0298 0.1656 0.0920 0.0779 0.0906 het 239.31 27 16 23607504 . G C 239.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.582;DP=27;Dels=0.00;FS=1.951;HRun=0;HaplotypeScore=0.0000;MQ=58.61;MQ0=0;MQRankSum=-0.728;QD=8.86;ReadPosRankSum=-0.377;VQSLOD=5.1323;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,10:27:99:269,0,504 16 24372717 24372717 G A exonic CACNG3 nonsynonymous SNV CACNG3:NM_006539:exon4:c.G481A:p.A161T . . . . . . 4.188e-05 0.0001 0 0 0 6.037e-05 0 0 0.0002 0.0002 0.0002 . . rs140935639 COSM1563172 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.99 0.615 D 0.782 0.555 P 0.000 0.843 D 0.999 0.460 D 1.7 0.440 L -2.51 0.893 D -1.79 0.422 N 0.322 0.383 0.351 0.884 D 0.728 0.907 D 0.091 0.758 D 2.719 0.388 20.9 0.976 0.341 0.943 0.606 D c 0.404 0.363 0.942 0.275 0.487 0.133 0 4.96 0.650 7.078 0.763 0.953 0.551 1.000 0.715 0.959 0.439 16.81 0.855 . . . 1.225e-05 0 0 0 0 0 2.698e-05 0 0 . . . . . . . . het 2008.59 185 16 24372717 . G A 2008.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.545;DP=185;Dels=0.00;FS=12.899;HRun=0;HaplotypeScore=0.9332;MQ=59.77;MQ0=0;MQRankSum=-0.289;QD=10.86;ReadPosRankSum=0.641;VQSLOD=2.5366;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,89:185:99:2039,0,2343 16 24582299 24582299 C G exonic RBBP6 synonymous SNV RBBP6:NM_018703:exon17:c.C3810G:p.T1270T,RBBP6:NM_006910:exon18:c.C3912G:p.T1304T 0.13 0.15 0.16 0.015 0.14 0.18 0.1570 0.1557 0.1997 0.0141 0.0805 0.1608 0.1358 0.2194 0.17 0.16 0.17 0.15 0.14 rs7196736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1566 0.1550 0.1904 0.2203 0.0130 0.0740 0.1618 0.1495 0.2227 0.1438 0.1553 0.1950 0.2616 0.0155 0.0743 0.1622 0.1380 het 1322.99 80 16 24582299 . C G 1322.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.393;DP=80;Dels=0.00;FS=9.890;HRun=1;HaplotypeScore=3.9768;MQ=59.46;MQ0=0;MQRankSum=1.973;QD=16.54;ReadPosRankSum=-1.883;VQSLOD=2.9838;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,50:80:99:1353,0,664 16 24583406 24583406 A G exonic RBBP6 synonymous SNV RBBP6:NM_018703:exon17:c.A4917G:p.A1639A,RBBP6:NM_006910:exon18:c.A5019G:p.A1673A 0.31 0.35 0.33 0.089 0.41 0.38 0.3561 0.3628 0.3147 0.0918 0.3008 0.3891 0.3620 0.4077 0.39 0.37 0.4 0.29 0.29 rs7593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3525 0.3608 0.3106 0.3715 0.0927 0.3088 0.3952 0.3634 0.4085 0.3554 0.3617 0.3198 0.4272 0.0822 0.3142 0.3916 0.3522 hom 2786.27 91 16 24583406 . A G 2786.27 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=30.62;VQSLOD=9.1560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2819,232,0 16 24801979 24801979 C T exonic TNRC6A synonymous SNV TNRC6A:NM_001330520:exon6:c.C2016T:p.S672S,TNRC6A:NM_014494:exon6:c.C2016T:p.S672S 0.17 0.27 0.14 0.002 0.28 0.1 0.2124 0.2858 0.1097 0.0001 0.2562 0.2666 0.1829 0.1141 0.28 0.3 0.27 0.18 0.32 rs13336754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2064 0.2909 0.1112 0.1991 0.0003 0.2546 0.2707 0.2183 0.1158 0.2594 0.2911 0.1400 0.1954 0.0012 0.2672 0.2773 0.2245 het 2042.88 150 16 24801979 . C T 2042.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.050;DP=150;Dels=0.00;FS=5.024;HRun=0;HaplotypeScore=3.8505;MQ=58.84;MQ0=0;MQRankSum=0.541;QD=13.62;ReadPosRankSum=-1.464;VQSLOD=5.0352;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,76:150:99:2073,0,1835 16 24815534 24815534 A G exonic TNRC6A nonsynonymous SNV TNRC6A:NM_001330520:exon12:c.A3731G:p.H1244R,TNRC6A:NM_014494:exon12:c.A3731G:p.H1244R 0.0004 0.0008 . . 0.001 . 0.0030 0.0012 0.0011 0 0.0009 0.0050 0 0 0.0049 0.0016 0.0066 . 0.0082 rs146427035 COSM4938306 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.557 0.486 P 0.447 0.452 P 0.000 0.523 D 0.999 0.452 D -0.055 0.049 N 3.56 0.215 T 1.37 0.014 N 0.426 0.660 -0.867 0.508 T 0.006 0.021 T 0.009 0.242 T 1.546 0.248 13.56 0.906 0.192 0.943 0.606 D c -0.067 0.138 0.991 0.322 0.707 0.730 0 6.08 0.990 2.935 0.484 1.140 0.893 1.000 0.715 1.000 0.888 12.491 0.551 . . . 0.0029 0.0009 0.0011 0 0 0.0008 0.0056 0.0022 0 0.0033 0.0017 0.0024 0 0 0.0003 0.0054 0.0020 het 894.72 68 16 24815534 . A G 894.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.675;DP=68;Dels=0.00;FS=4.662;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.566;QD=13.16;ReadPosRankSum=-0.924;VQSLOD=4.3499;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,37:68:99:925,0,831 16 24888593 24888593 A G exonic SLC5A11 synonymous SNV SLC5A11:NM_001258412:exon6:c.A282G:p.A94A,SLC5A11:NM_001258411:exon7:c.A387G:p.A129A,SLC5A11:NM_001258413:exon7:c.A300G:p.A100A,SLC5A11:NM_001258414:exon7:c.A300G:p.A100A,SLC5A11:NM_052944:exon7:c.A492G:p.A164A 0.14 0.23 0.097 . 0.15 0.17 0.1338 0.2094 0.0626 0.0035 0.1899 0.1429 0.1261 0.1456 0.16 0.2 0.14 0.12 0.16 rs8052587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1298 0.2076 0.0669 0.1744 0.0039 0.1843 0.1396 0.1316 0.1404 0.1591 0.1983 0.0694 0.2133 0.0025 0.1812 0.1514 0.1704 het 4225.27 250 16 24888593 . A G 4225.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.894;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2294;MQ=58.51;MQ0=0;MQRankSum=0.071;QD=16.90;ReadPosRankSum=-0.135;VQSLOD=4.5831;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,127:250:99:3520,0,3623 16 24888646 24888646 T C exonic SLC5A11 nonsynonymous SNV SLC5A11:NM_001258412:exon6:c.T335C:p.V112A,SLC5A11:NM_001258411:exon7:c.T440C:p.V147A,SLC5A11:NM_001258413:exon7:c.T353C:p.V118A,SLC5A11:NM_001258414:exon7:c.T353C:p.V118A,SLC5A11:NM_052944:exon7:c.T545C:p.V182A 0.18 0.1 0.23 0.045 0.38 0.18 0.2898 0.1311 0.1979 0.0466 0.3441 0.3740 0.2826 0.2200 0.3 0.15 0.38 0.13 0.36 rs11074656 . . . . . . . . . . . . . 0.122 0.329 T 0.01 0.371 B 0.026 0.419 B 0.055 0.227 N 1 0.090 P 1.04 0.263 L -2.4 0.885 D -2.78 0.589 D 0.196 0.287 -1.113 0.029 T 0.000 0.000 T . . . 0.618 0.153 8.282 0.960 0.277 0.208 0.210 N c -0.492 -0.455 0.000 0.035 0.487 0.133 0 3.88 0.438 1.586 0.360 1.061 0.807 0.013 0.187 0.991 0.552 9.972 0.407 . ENSG00000158865.8|ENSG00000158865.8|ENSG00000158865.8 Adipose_Subcutaneous|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2893 0.1279 0.1997 0.3697 0.0420 0.3323 0.3780 0.3231 0.2216 0.2746 0.1334 0.2206 0.3808 0.0401 0.3446 0.3650 0.3047 het 2905.37 226 16 24888646 . T C 2905.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.081;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1994;MQ=58.73;MQ0=0;MQRankSum=-0.447;QD=12.86;ReadPosRankSum=-0.880;VQSLOD=4.1252;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,99:226:99:2935,0,3821 16 24902194 24902194 T C exonic SLC5A11 synonymous SNV SLC5A11:NM_001258412:exon8:c.T459C:p.F153F,SLC5A11:NM_001258411:exon9:c.T564C:p.F188F,SLC5A11:NM_001258413:exon9:c.T477C:p.F159F,SLC5A11:NM_052944:exon9:c.T669C:p.F223F 1. 1. 1. 1. 1. 1. 0.9999 1 1 0.9993 1 1.0000 0.9989 0.9999 . . . 1. 0.72 rs274081 COSM4595250 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9999 1 1 0.9993 1 1.0000 1 0.9999 1.0000 1 1 1 0.9994 1 1 1 hom 7313.31 249 16 24902194 . T C 7313.31 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4964;MQ=59.44;MQ0=0;MQRankSum=0.330;QD=29.37;ReadPosRankSum=-0.652;VQSLOD=7.9370;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,246:249:99:7278,578,0 16 24918048 24918048 C T exonic SLC5A11 nonsynonymous SNV SLC5A11:NM_001258414:exon10:c.C679T:p.R227C 0.24 0.3 0.26 0.017 0.43 0.17 0.3384 0.3240 0.2034 0.0130 0.4029 0.4282 0.3315 0.2235 0.4 0.34 0.43 0.21 0.54 rs17772929 COSM1162532 1(pancreas);2(large_intestine) . . . . . . . . . . . 0.061 0.371 T 0.007 0.131 B 0.001 0.040 B . . . 0.984 0.810 P . . . -1.79 0.838 D -0.15 0.093 N . . -0.979 0.353 T 0.000 0.000 T . . . 2.553 0.368 19.81 0.990 0.487 0.274 0.230 N c -0.661 -0.642 0.006 0.110 0.534 0.214 0 -2.83 0.054 -0.944 0.040 0.071 0.179 0.031 0.203 0.996 0.625 11.609 0.501 . . . 0.3326 0.3247 0.2129 0.3681 0.0123 0.3971 0.4322 0.3592 0.2240 0.3654 0.3283 0.2590 0.3642 0.0173 0.4109 0.4220 0.3384 het 1582.97 145 16 24918048 . C T 1582.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.182;DP=145;Dels=0.00;FS=3.065;HRun=1;HaplotypeScore=2.9131;MQ=59.12;MQ0=0;MQRankSum=0.666;QD=10.92;ReadPosRankSum=0.777;VQSLOD=6.3191;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,65:145:99:1613,0,1930 16 25239805 25239805 G C exonic AQP8 nonsynonymous SNV AQP8:NM_001169:exon6:c.G778C:p.A260P 0.41 0.41 0.43 0.53 0.35 0.36 0.3813 0.4092 0.4299 0.5165 0.3349 0.3595 0.3978 0.3650 0.39 0.41 0.37 0.43 0.35 rs2287798 COSM148055;COSM148054 1(stomach);2(large_intestine) . . . . . . . . . . . 0.301 0.147 T 0.165 0.269 B 0.043 0.229 B 0.024 0.016 N 1 0.090 P 0.345 0.112 N -2.73 0.907 D 0.69 0.022 N 0.056 0.039 -1.024 0.222 T 0.000 0.000 T . . . -0.140 0.081 1.449 0.765 0.111 0.054 0.111 N c -1.285 -1.300 0.494 0.209 0.497 0.185 0 -1.46 0.083 0.306 0.189 -0.892 0.027 0.185 0.239 0.007 0.100 8.671 0.331 Aquaporin-like ENSG00000155592.11|ENSG00000155592.11|ENSG00000155592.11|ENSG00000155592.11|ENSG00000155592.11|ENSG00000155592.11|ENSG00000103375.6 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Pancreas 0.3827 0.4094 0.4323 0.3058 0.5129 0.3420 0.3651 0.3746 0.3620 0.3846 0.4107 0.4195 0.2881 0.5211 0.3537 0.3646 0.3436 het 1316.74 86 16 25239805 . G C 1316.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.022;DP=86;Dels=0.00;FS=3.046;HRun=1;HaplotypeScore=0.9789;MQ=59.39;MQ0=0;MQRankSum=-0.628;QD=15.31;ReadPosRankSum=-0.065;VQSLOD=6.1674;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,46:86:99:1347,0,953 16 27238110 27238110 C T exonic NSMCE1 synonymous SNV NSMCE1:NM_145080:exon6:c.G531A:p.E177E 0.32 0.17 0.23 0.47 0.35 0.37 0.3404 0.1857 0.2325 0.4718 0.3602 0.3536 0.3630 0.3774 0.29 0.18 0.34 0.27 0.17 rs1127228 COSM4128848 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3354 0.1787 0.2279 0.2860 0.4750 0.3508 0.3568 0.3327 0.3802 0.3096 0.1941 0.2368 0.2881 0.4783 0.3483 0.3529 0.3310 het 2651.89 250 16 27238110 . C T 2651.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.078;DP=250;DS;Dels=0.00;FS=2.807;HRun=1;HaplotypeScore=5.5593;MQ=58.78;MQ0=0;MQRankSum=0.113;QD=10.61;ReadPosRankSum=1.348;VQSLOD=4.6294;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:142,108:250:99:2682,0,3722 16 27356203 27356203 A G exonic IL4R nonsynonymous SNV IL4R:NM_001257406:exon4:c.A223G:p.I75V,IL4R:NM_000418:exon5:c.A223G:p.I75V,IL4R:NM_001257407:exon5:c.A178G:p.I60V 0.46 0.48 0.43 0.52 0.43 0.42 0.4512 0.4955 0.4611 0.5138 0.3813 0.4464 0.4636 0.4304 0.47 0.5 0.45 0.42 0.34 rs1805010 COSM1749518 1(urinary_tract);2(thyroid) other|Pathogenic Atopy\x2c_resistance_to|Acquired_immunodeficiency_syndrome\x2c_slow_progression_to RCV000015776.4|RCV000015777.4 MedGen|MedGen C4016232|C1840084 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.381 0.044 N 1 0.090 P . . . 2.19 0.187 T 0.34 0.044 N 0.023 0.081 -0.941 0.425 T 0.000 0.000 T . . . -1.776 0.011 0.002 0.582 0.058 0.010 0.037 N c -1.480 -1.380 0.930 0.269 0.706 0.609 0 0.172 0.143 -0.221 0.091 -0.247 0.091 0.287 0.250 0.018 0.130 6.320 0.203 Fibronectin type III|Immunoglobulin-like fold|Interleukin-4 receptor alpha\x2c N-terminal . . 0.4469 0.4968 0.4535 0.3976 0.5104 0.3657 0.4511 0.4538 0.4373 0.4467 0.4952 0.4472 0.3709 0.5136 0.3673 0.4330 0.4199 het 864.62 70 16 27356203 . A G 864.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.365;DP=70;Dels=0.00;FS=2.279;HRun=0;HaplotypeScore=0.8321;MQ=58.41;MQ0=0;MQRankSum=-0.224;QD=12.35;ReadPosRankSum=2.353;VQSLOD=5.0143;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:895,0,959 16 27772901 27772901 G A exonic KIAA0556 nonsynonymous SNV KIAA0556:NM_015202:exon19:c.G3799A:p.A1267T 1. 1. 1. 1. 1. 1. 0.9995 0.9997 0.9994 1 0.9998 0.9992 1 1 1. 1. 1. 1. 1. rs4787984 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.997 0.229 P -2.83 0.000 N 2.79 0.112 T 4.05 0.001 N 0.074 0.064 -0.986 0.335 T 0.000 0.000 T . . . 2.065 0.309 16.63 0.362 0.023 0.080 0.138 N c -0.947 -0.591 1.000 0.747 0.706 0.609 0 4.56 0.555 7.360 0.786 0.157 0.243 1.000 0.715 0.992 0.562 9.831 0.399 Domain of unknown function DUF4457 . . 0.9995 0.9999 0.9992 0.9977 1 0.9999 0.9995 0.9996 1 0.9998 0.9999 1 0.9967 1 1 0.9997 1 hom 2685.48 97 16 27772901 . G A 2685.48 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8533;MQ=57.54;MQ0=0;QD=27.69;VQSLOD=5.9875;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2718,220,0 16 27781309 27781309 G A exonic KIAA0556 nonsynonymous SNV KIAA0556:NM_015202:exon21:c.G4103A:p.R1368Q 0.029 0.003 0.016 . 0.066 0.067 0.0558 0.0101 0.0271 0.0002 0.0596 0.0719 0.0773 0.0660 0.048 0.011 0.067 0.022 0.066 rs11644502 COSM3754822;COSM3754821 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.486 N 1.000 0.196 N -2.165 0.001 N 2.58 0.134 T 1.38 0.009 N 0.03 0.011 -0.949 0.411 T 0.001 0.002 T . . . 0.297 0.123 5.668 0.707 0.091 0.097 0.152 N c -1.192 -0.976 1.000 0.747 0.615 0.372 0 3.88 0.438 3.810 0.551 0.201 0.252 1.000 0.715 0.005 0.090 7.368 0.258 Domain of unknown function DUF4457 . . 0.0563 0.0096 0.0319 0.1422 0.0003 0.0558 0.0681 0.0563 0.0673 0.0442 0.0102 0.0382 0.1291 0 0.0595 0.0623 0.0684 het 2007.40 166 16 27781309 . G A 2007.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.035;DP=166;DS;Dels=0.00;FS=8.781;HRun=0;HaplotypeScore=4.0918;MQ=59.44;MQ0=0;MQRankSum=-0.613;QD=12.09;ReadPosRankSum=-0.212;VQSLOD=4.6883;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,72:166:99:2037,0,2483 16 27784497 27784497 G A exonic KIAA0556 nonsynonymous SNV KIAA0556:NM_015202:exon23:c.G4276A:p.E1426K 0.0094 . 0.023 . 0.028 0.0031 0.0213 0.0072 0.0194 0 0.0118 0.0328 0.0187 0.0032 0.022 0.0073 0.029 0.011 0.041 rs117316062 . . . . . . . . . . . . . 0.103 0.301 T 0.865 0.456 P 0.488 0.455 P 0.000 0.629 D 0.998 0.442 D 1.15 0.294 L 2.55 0.138 T -1.32 0.330 N 0.172 0.208 -1.113 0.028 T 0.017 0.069 T . . . 4.710 0.631 24.6 0.998 0.861 0.957 0.655 D c 0.119 0.086 1.000 0.747 0.646 0.450 0 4.89 0.632 5.190 0.647 1.048 0.713 1.000 0.715 0.546 0.279 17.655 0.880 Domain of unknown function DUF4457 . . 0.0177 0.0061 0.0171 0.0129 0 0.0097 0.0280 0.0244 0.0025 0.0159 0.0068 0.0215 0.0099 0 0.0086 0.0245 0.0133 het 403.12 29 16 27784497 . G A 403.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.390;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=57.82;MQ0=0;MQRankSum=-0.110;QD=13.90;ReadPosRankSum=0.767;VQSLOD=6.4200;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,16:29:99:433,0,300 16 27974487 27974487 T C exonic GSG1L synonymous SNV GSG1L:NM_001109763:exon2:c.A387G:p.A129A,GSG1L:NM_001323900:exon2:c.A387G:p.A129A,GSG1L:NM_001323901:exon2:c.A387G:p.A129A 0.58 0.42 0.68 0.75 0.56 0.57 0.5887 0.4460 0.7781 0.7441 0.5539 0.5570 0.5724 0.6021 0.54 0.46 0.58 0.54 . rs2051743 COSM3754825 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5947 0.4407 0.7525 0.4541 0.7426 0.5514 0.5644 0.5820 0.6042 0.5394 0.4489 0.7088 0.4801 0.7210 0.5529 0.5595 0.5612 hom 1676.11 56 16 27974487 . T C 1676.11 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=29.93;VQSLOD=8.7087;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1709,135,0 16 28506428 28506428 C T exonic APOBR synonymous SNV APOBR:NM_018690:exon2:c.C66T:p.L22L 0.16 0.11 0.11 0.0079 0.13 0.42 0.2422 0.1925 0.1865 0.0173 0.1721 0.2319 0.2399 0.5188 0.13 0.11 0.14 0.087 . rs151233 COSM4128880;COSM4128881 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1352 0.1116 0.0798 0.2425 0.0036 0.1203 0.1236 0.1388 0.3735 0.1174 0.1222 0.0883 0.2715 0.0012 0.1203 0.1228 0.1530 het 126.16 18 16 28506428 . C T 126.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.077;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.920;QD=7.01;ReadPosRankSum=-0.515;VQSLOD=8.7610;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:156,0,318 16 28506872 28506872 A G exonic APOBR synonymous SNV APOBR:NM_018690:exon2:c.A510G:p.E170E 0.29 0.39 0.43 0.1 0.35 0.21 0.4294 0.4621 0.5541 0.1999 0.6244 0.4921 0.4236 0.2614 0.39 0.38 0.39 0.35 . rs149271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3620 0.3903 0.4051 0.2894 0.0901 0.4827 0.4119 0.3636 0.2337 0.4020 0.3783 0.4272 0.2781 0.0796 0.4925 0.4324 0.3770 het 178.58 10 16 28506872 . A G 178.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.067;DP=10;Dels=0.00;FS=3.010;HRun=1;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=0.762;QD=17.86;ReadPosRankSum=0.067;VQSLOD=5.3090;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:2,7:10:52.06:209,0,52 16 28507644 28507644 C G exonic APOBR nonsynonymous SNV APOBR:NM_018690:exon2:c.C1282G:p.P428A 0.3 0.41 0.43 0.1 0.35 0.22 0.3697 0.4133 0.4096 0.0911 0.4793 0.4038 0.3732 0.2530 0.4 0.41 0.39 0.33 . rs180743 COSM148062 1(stomach) . . . . . . . . . . . 1.0 0.024 T . . . . . . . . . 1 0.090 P 0.55 0.145 N 0.99 0.418 T 0.1 0.058 N 0.016 0.003 -0.941 0.425 T 0.000 0.000 T . . . -0.288 0.069 0.706 0.845 0.148 0.019 0.057 N c -0.822 -0.926 1.000 0.473 0.615 0.352 0 0.489 0.160 -0.558 0.060 -1.966 0.005 0.000 0.063 0.000 0.016 4.273 0.102 . ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000178952.4|ENSG00000259982.1|ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000259982.1|ENSG00000197165.6|ENSG00000251417.1|ENSG00000264455.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000178952.4|ENSG00000259982.1|ENSG00000197165.6|ENSG00000259982.1|ENSG00000251417.1|ENSG00000176046.7|ENSG00000264455.1|ENSG00000271623.1|ENSG00000197165.6|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000271623.1|ENSG00000196502.7|ENSG00000178952.4|ENSG00000178952.4|ENSG00000251417.1|ENSG00000178188.10|ENSG00000196502.7|ENSG00000197165.6|ENSG00000259982.1|ENSG00000259982.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000178952.4|ENSG00000264455.1|ENSG00000178952.4|ENSG00000259982.1|ENSG00000197165.6|ENSG00000197165.6|ENSG00000205609.8|ENSG00000196502.7|ENSG00000259982.1|ENSG00000251417.1|ENSG00000178188.10|ENSG00000271623.1|ENSG00000233232.2|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000251417.1|ENSG00000197165.6|ENSG00000259982.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000197272.2|ENSG00000251417.1|ENSG00000205609.8|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000251417.1|ENSG00000197165.6|ENSG00000213658.6|ENSG00000196502.7|ENSG00000176476.4|ENSG00000251417.1|ENSG00000178188.10|ENSG00000271623.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000178952.4|ENSG00000264455.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000205609.8|ENSG00000259982.1|ENSG00000259982.1|ENSG00000197165.6|ENSG00000178952.4|ENSG00000264455.1|ENSG00000271623.1|ENSG00000196502.7|ENSG00000197165.6|ENSG00000259982.1|ENSG00000176953.6|ENSG00000251417.1|ENSG00000264455.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000188322.4|ENSG00000259982.1|ENSG00000198156.6|ENSG00000197165.6|ENSG00000259982.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000271623.1|ENSG00000197165.6|ENSG00000176953.6|ENSG00000178952.4|ENSG00000197272.2|ENSG00000259982.1|ENSG00000198156.6|ENSG00000251417.1|ENSG00000264455.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000270424.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000197165.6|ENSG00000264455.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000205609.8|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000198156.6|ENSG00000169682.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3632 0.4098 0.4025 0.3001 0.0868 0.4807 0.4042 0.3760 0.2315 0.4070 0.3958 0.4282 0.2733 0.0799 0.4923 0.4320 0.3822 het 499.89 34 16 28507644 . C G 499.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.103;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.58;MQ0=0;MQRankSum=-0.307;QD=14.70;ReadPosRankSum=-0.380;VQSLOD=5.5510;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,19:34:99:530,0,406 16 28508069 28508069 C T exonic APOBR synonymous SNV APOBR:NM_018690:exon2:c.C1707T:p.G569G 0.24 0.22 0.41 0.093 0.35 0.18 0.3973 0.2949 0.4859 0.1312 0.5636 0.4596 0.405 0.2509 0.34 0.24 0.39 0.27 . rs151174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3449 0.2363 0.3924 0.2860 0.0788 0.4813 0.4023 0.3585 0.2188 0.3563 0.2247 0.4105 0.2781 0.0686 0.4946 0.4293 0.3747 het 148.90 14 16 28508069 . C T 148.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.259;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.06;MQ0=0;MQRankSum=0.581;QD=10.64;ReadPosRankSum=0.710;VQSLOD=5.7438;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:179,0,212 16 28508716 28508716 T C exonic APOBR nonsynonymous SNV APOBR:NM_018690:exon2:c.T2354C:p.V785A 0.99 0.95 0.99 1. 1. 1. 0.9953 0.9461 0.9979 0.9999 1 0.9998 0.9977 0.9999 0.98 0.95 1. 0.99 . rs40832 . . . . . . . . . . . . . 0.903 0.043 T . . . . . . . . . 1 0.090 P -1.445 0.006 N 0.43 0.568 T 0.75 0.020 N 0.013 0.002 -1.005 0.284 T 0.000 0.000 T . . . -1.722 0.012 0.002 0.419 0.030 0.007 0.030 N c -1.562 -1.749 1.000 0.747 0.615 0.352 0 -6.06 0.020 -1.627 0.021 -1.931 0.005 0.000 0.063 0.000 0.016 3.495 0.072 . . . 0.9962 0.9446 0.9978 0.9997 0.9999 1 0.9999 0.9987 0.9999 0.9861 0.9515 0.9952 1 0.9994 1 0.9998 0.9990 hom 634.52 24 16 28508716 . T C 634.52 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.44;VQSLOD=13.3239;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:51.16:668,51,0 16 28513403 28513403 A G exonic IL27 nonsynonymous SNV IL27:NM_145659:exon4:c.T356C:p.L119P 0.16 0.015 0.35 0.083 0.29 0.17 0.2851 0.0601 0.3761 0.0840 0.4361 0.3364 0.2925 0.2010 0.24 0.073 0.32 0.2 0.11 rs181206 COSM3754829 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 0.99 0.615 D 0.836 0.581 P 0.383 0.134 N 1.000 0.182 P 1.75 0.456 L 1.13 0.386 T -2.95 0.615 D 0.322 0.383 -1.014 0.256 T 0.000 0.000 T . . . 3.878 0.523 23.5 0.997 0.796 0.227 0.216 N c 0.212 0.155 0.846 0.249 0.497 0.185 0 2.97 0.333 1.242 0.321 1.074 0.850 0.026 0.200 0.674 0.303 6.393 0.207 . ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000178952.4|ENSG00000259982.1|ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000197165.6|ENSG00000251417.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000178952.4|ENSG00000259982.1|ENSG00000259982.1|ENSG00000178952.4|ENSG00000251417.1|ENSG00000176046.7|ENSG00000264455.1|ENSG00000271623.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000184110.10|ENSG00000176953.6|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000196502.7|ENSG00000196502.7|ENSG00000251417.1|ENSG00000259982.1|ENSG00000259982.1|ENSG00000259982.1|ENSG00000178952.4|ENSG00000259982.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000184110.10|ENSG00000196502.7|ENSG00000259982.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000197165.6|ENSG00000259982.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000197272.2|ENSG00000251417.1|ENSG00000205609.8|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000197165.6|ENSG00000196502.7|ENSG00000251417.1|ENSG00000178188.10|ENSG00000271623.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000178952.4|ENSG00000205609.8|ENSG00000259982.1|ENSG00000197165.6|ENSG00000178952.4|ENSG00000271623.1|ENSG00000196502.7|ENSG00000251417.1|ENSG00000264455.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000198156.6|ENSG00000197165.6|ENSG00000205609.8|ENSG00000259982.1|ENSG00000271623.1|ENSG00000197165.6|ENSG00000178952.4|ENSG00000197272.2|ENSG00000198156.6|ENSG00000264455.1|ENSG00000271623.1|ENSG00000270424.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000197165.6|ENSG00000264455.1|ENSG00000197165.6|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000169682.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2851 0.0524 0.3558 0.2546 0.0718 0.4184 0.3298 0.3037 0.1942 0.2559 0.0583 0.3553 0.2583 0.0583 0.4263 0.3434 0.3122 het 345.06 35 16 28513403 . A G 345.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.071;DP=35;Dels=0.00;FS=2.026;HRun=3;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;MQRankSum=0.825;QD=9.86;ReadPosRankSum=-1.397;VQSLOD=6.2051;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,14:35:99:375,0,678 16 28549508 28549508 G A exonic NUPR1 synonymous SNV NUPR1:NM_001042483:exon2:c.C135T:p.P45P 0.08 0.086 0.099 0.004 0.12 0.091 0.1002 0.0851 0.0591 0.0013 0.0923 0.1231 0.1278 0.0998 0.12 0.088 0.13 0.033 0.098 rs151227 COSN17153933;COSN8992293 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1002 0.0850 0.0671 0.1686 0.0009 0.0898 0.1236 0.1099 0.0990 0.0953 0.0892 0.0776 0.1358 0.0025 0.0872 0.1098 0.1133 het 1884.88 136 16 28549508 . G A 1884.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.632;DP=136;Dels=0.00;FS=1.730;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=-0.244;QD=13.86;ReadPosRankSum=-0.941;VQSLOD=6.5145;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,65:136:99:1915,0,1984 16 28550174 28550174 C T exonic NUPR1 nonsynonymous SNV NUPR1:NM_001042483:exon1:c.G55A:p.D19N,NUPR1:NM_012385:exon1:c.G55A:p.D19N . . . . . . 0.0009 0.0002 8.66e-05 0 0.0002 0.0016 0 0 0.0023 0.0002 0.0034 . 0.0082 rs144175749 . . . . . . . . . . . . . 0.173 0.225 T 0.013 0.154 B 0.021 0.181 B 0.170 0.174 N 0.855 0.353 D . . . . . . -0.84 0.229 N 0.079 0.072 -0.937 0.431 T 0.124 0.429 T 0.010 0.259 T 4.988 0.671 25.1 0.999 0.949 0.516 0.287 D c -0.227 -0.089 1.000 0.747 0.660 0.495 0 4.49 0.540 1.311 0.329 0.927 0.437 0.951 0.329 0.051 0.165 10.267 0.424 . . . 0.0009 0.0002 0.0001 0 0 0.0004 0.0018 0.0007 6.504e-05 0.0011 0.0002 0 0 0 0.0009 0.0018 0.0010 het 548.09 49 16 28550174 . C T 548.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.414;DP=49;Dels=0.00;FS=2.940;HRun=1;HaplotypeScore=0.9997;MQ=59.05;MQ0=0;MQRankSum=1.372;QD=11.19;ReadPosRankSum=-0.270;VQSLOD=4.7567;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,23:49:99:578,0,718 16 28602991 28602991 A G exonic SGF29 synonymous SNV SGF29:NM_138414:exon10:c.A846G:p.R282R 0.17 0.16 0.2 0.22 0.16 0.14 0.1682 0.1593 0.1784 0.2036 0.1308 0.1733 0.1949 0.1405 0.17 0.17 0.17 0.098 0.14 rs11401 COSM4128897 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1695 0.1628 0.1793 0.2083 0.2154 0.1246 0.1738 0.1755 0.1397 0.1613 0.1638 0.1730 0.1854 0.2326 0.1287 0.1578 0.1738 het 2366.03 197 16 28602991 . A G 2366.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.652;DP=197;Dels=0.00;FS=6.328;HRun=1;HaplotypeScore=5.9263;MQ=58.94;MQ0=0;MQRankSum=0.179;QD=12.01;ReadPosRankSum=0.519;VQSLOD=4.9209;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:104,93:197:99:2396,0,2755 16 28603012 28603012 A G exonic SGF29 synonymous SNV SGF29:NM_138414:exon10:c.A867G:p.E289E 0.077 0.079 0.1 0.004 0.12 0.085 0.0999 0.0814 0.0605 0.0012 0.0922 0.1235 0.1316 0.0972 0.12 0.084 0.13 0.022 0.09 rs3194168 COSM4128898 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0997 0.0829 0.0673 0.1669 0.0009 0.0894 0.1238 0.1107 0.0957 0.0959 0.0891 0.0811 0.1358 0.0025 0.0875 0.1103 0.1207 het 1994.97 182 16 28603012 . A G 1994.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.761;DP=182;Dels=0.00;FS=1.976;HRun=0;HaplotypeScore=10.4725;MQ=59.35;MQ0=0;MQRankSum=1.413;QD=10.96;ReadPosRankSum=1.750;VQSLOD=2.9634;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,79:182:99:2025,0,2549 16 28603655 28603655 T G exonic SULT1A2 nonsynonymous SNV SULT1A2:NM_001054:exon7:c.A704C:p.N235T,SULT1A2:NM_177528:exon7:c.A704C:p.N235T 0.22 0.22 0.4 0.074 0.32 0.17 0.3126 0.2344 0.3935 0.0689 0.4428 0.3584 0.3150 0.1956 0.32 0.25 0.36 0.25 0.44 rs1059491 COSM1579553 1(haematopoietic_and_lymphoid_tissue);10(soft_tissue);1(pancreas) . . . . . . . . . . . 0.012 0.632 D 1.0 0.899 D 1.0 0.971 D 0.000 0.629 D 0.119 0.394 P 3.475 0.927 M 4.45 0.022 T -5.59 0.887 D 0.18 0.314 -0.944 0.420 T 0.000 0.000 T . . . 5.402 0.732 26.0 0.995 0.682 0.974 0.743 D c 0.737 0.657 1.000 0.747 0.476 0.093 0 4.98 0.655 7.935 0.870 0.960 0.565 1.000 0.715 0.996 0.625 12.659 0.560 P-loop containing nucleoside triphosphate hydrolase|Sulfotransferase domain ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000178952.4|ENSG00000259982.1|ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000259982.1|ENSG00000197165.6|ENSG00000259982.1|ENSG00000251417.1|ENSG00000176046.7|ENSG00000197165.6|ENSG00000205609.8|ENSG00000178952.4|ENSG00000259982.1|ENSG00000259982.1|ENSG00000251417.1|ENSG00000176046.7|ENSG00000264455.1|ENSG00000271623.1|ENSG00000197165.6|ENSG00000184110.10|ENSG00000176953.6|ENSG00000178952.4|ENSG00000196502.7|ENSG00000176476.4|ENSG00000259982.1|ENSG00000197165.6|ENSG00000196502.7|ENSG00000197165.6|ENSG00000196502.7|ENSG00000197165.6|ENSG00000196502.7|ENSG00000197165.6|ENSG00000196502.7|ENSG00000197165.6|ENSG00000197165.6|ENSG00000197165.6|ENSG00000178952.4|ENSG00000251417.1|ENSG00000197165.6|ENSG00000259982.1|ENSG00000259982.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000178952.4|ENSG00000259982.1|ENSG00000197165.6|ENSG00000197165.6|ENSG00000205609.8|ENSG00000196502.7|ENSG00000259982.1|ENSG00000251417.1|ENSG00000176046.7|ENSG00000178188.10|ENSG00000271623.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000197165.6|ENSG00000259982.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000197272.2|ENSG00000251417.1|ENSG00000205609.8|ENSG00000178952.4|ENSG00000196502.7|ENSG00000176476.4|ENSG00000259982.1|ENSG00000251417.1|ENSG00000197165.6|ENSG00000213658.6|ENSG00000196502.7|ENSG00000176476.4|ENSG00000251417.1|ENSG00000178188.10|ENSG00000271623.1|ENSG00000197165.6|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000205609.8|ENSG00000259982.1|ENSG00000196502.7|ENSG00000259982.1|ENSG00000196502.7|ENSG00000197165.6|ENSG00000251417.1|ENSG00000178952.4|ENSG00000271623.1|ENSG00000196502.7|ENSG00000270424.1|ENSG00000259982.1|ENSG00000176953.6|ENSG00000251417.1|ENSG00000264455.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000198156.6|ENSG00000197165.6|ENSG00000259982.1|ENSG00000196502.7|ENSG00000197165.6|ENSG00000259982.1|ENSG00000271623.1|ENSG00000197165.6|ENSG00000178952.4|ENSG00000197272.2|ENSG00000259982.1|ENSG00000198156.6|ENSG00000264455.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000270424.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000197165.6|ENSG00000264455.1|ENSG00000197165.6|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000198156.6|ENSG00000169682.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3182 0.2326 0.3844 0.2798 0.0627 0.4448 0.3615 0.3305 0.1936 0.3309 0.2253 0.3957 0.2781 0.0504 0.4538 0.3907 0.3384 het 2632.70 228 16 28603655 . T G 2632.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.482;DP=228;DS;Dels=0.00;FS=1.780;HRun=3;HaplotypeScore=6.3170;MQ=58.01;MQ0=0;MQRankSum=1.128;QD=11.55;ReadPosRankSum=0.408;VQSLOD=4.1426;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,102:228:99:2663,0,3439 16 28842311 28842311 A G exonic ATXN2L synonymous SNV ATXN2L:NM_001308230:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_007245:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_017492:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_145714:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148414:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148415:exon10:c.A1239G:p.Q413Q,ATXN2L:NM_148416:exon10:c.A1239G:p.Q413Q 1. 0.99 1. 1. 1. 1. 0.9995 0.9941 0.9998 1 1 1.0000 0.9989 1 1. 0.99 1. 1. 0.75 rs4344749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9943 0.9997 1 0.9999 1 1.0000 0.9996 1 0.9980 0.9931 1 1 1 1 1 1 hom 1371.89 45 16 28842311 . A G 1371.89 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.12;MQ0=0;QD=30.49;VQSLOD=8.2821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1405,108,0 16 28883241 28883241 A G exonic SH2B1 nonsynonymous SNV SH2B1:NM_001308294:exon5:c.A442G:p.T148A,SH2B1:NM_015503:exon5:c.A1450G:p.T484A,SH2B1:NM_001145795:exon6:c.A1450G:p.T484A,SH2B1:NM_001145796:exon6:c.A1450G:p.T484A,SH2B1:NM_001145797:exon6:c.A1450G:p.T484A,SH2B1:NM_001145812:exon6:c.A1450G:p.T484A,SH2B1:NM_001308293:exon8:c.A1450G:p.T484A 0.26 0.23 0.49 0.13 0.33 0.22 0.3453 0.2650 0.4960 0.1086 0.4256 0.3826 0.3407 0.2312 0.34 0.27 0.38 0.21 0.32 rs7498665 COSM3754833;COSM148065;COSM3754832 1(stomach);9(soft_tissue);1(large_intestine) . . . . . Body mass index . .15 19079261 rs7498665 5E-11 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.587 0.111 N 1 0.090 P 0 0.065 N 0.98 0.425 T 0.05 0.108 N 0.008 0.007 -0.931 0.440 T 0.000 0.000 T . . . 0.428 0.135 6.851 0.336 0.020 0.009 0.036 N c -0.926 -0.751 0.181 0.179 0.707 0.730 0 3.08 0.344 0.432 0.210 0.104 0.200 0.072 0.219 0.736 0.318 4.220 0.099 . ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000259982.1|ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000259982.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000251417.1|ENSG00000264455.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000178952.4|ENSG00000259982.1|ENSG00000197165.6|ENSG00000259982.1|ENSG00000251417.1|ENSG00000176046.7|ENSG00000264455.1|ENSG00000271623.1|ENSG00000197165.6|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000188322.4|ENSG00000259982.1|ENSG00000251417.1|ENSG00000178952.4|ENSG00000178952.4|ENSG00000178952.4|ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000259982.1|ENSG00000259982.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000251417.1|ENSG00000178952.4|ENSG00000264455.1|ENSG00000178952.4|ENSG00000259982.1|ENSG00000176953.6|ENSG00000178952.4|ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000205609.8|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000251417.1|ENSG00000178188.10|ENSG00000271623.1|ENSG00000233232.2|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000196502.7|ENSG00000197165.6|ENSG00000259982.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000184110.10|ENSG00000197272.2|ENSG00000251417.1|ENSG00000205609.8|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000251417.1|ENSG00000197165.6|ENSG00000213658.6|ENSG00000196502.7|ENSG00000176476.4|ENSG00000251417.1|ENSG00000178188.10|ENSG00000271623.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000259982.1|ENSG00000271623.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000205609.8|ENSG00000259982.1|ENSG00000197165.6|ENSG00000251417.1|ENSG00000178952.4|ENSG00000271623.1|ENSG00000259982.1|ENSG00000176953.6|ENSG00000251417.1|ENSG00000264455.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000198156.6|ENSG00000259982.1|ENSG00000197165.6|ENSG00000259982.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000197165.6|ENSG00000259982.1|ENSG00000176046.7|ENSG00000271623.1|ENSG00000197165.6|ENSG00000178952.4|ENSG00000197272.2|ENSG00000259982.1|ENSG00000198156.6|ENSG00000251417.1|ENSG00000264455.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000205609.8|ENSG00000270424.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000259982.1|ENSG00000259982.1|ENSG00000264455.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000205609.8|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000198156.6|ENSG00000169682.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3522 0.2675 0.4878 0.2755 0.102 0.4251 0.3882 0.3541 0.2290 0.3444 0.2544 0.4614 0.2551 0.1021 0.4264 0.3997 0.3373 het 1445.65 104 16 28883241 . A G 1445.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.603;DP=104;Dels=0.00;FS=4.865;HRun=0;HaplotypeScore=3.5811;MQ=59.01;MQ0=0;MQRankSum=0.927;QD=13.90;ReadPosRankSum=2.079;VQSLOD=4.8855;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,50:104:99:1476,0,1481 16 28898793 28898793 T C exonic ATP2A1 synonymous SNV ATP2A1:NM_001286075:exon6:c.T303C:p.T101T,ATP2A1:NM_004320:exon8:c.T678C:p.T226T,ATP2A1:NM_173201:exon8:c.T678C:p.T226T 0.34 0.52 0.49 0.16 0.31 0.19 0.3482 0.5124 0.5034 0.1404 0.4031 0.3515 0.3201 0.2109 0.4 0.51 0.35 0.37 0.42 rs6565259 COSM3754834;COSM5828372 1(large_intestine) Benign|Benign not_specified|Brody_myopathy RCV000082700.5|RCV000371805.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1832918:601003:ORPHA53347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3513 0.5223 0.4928 0.2457 0.1341 0.4032 0.3570 0.3477 0.2094 0.4005 0.5005 0.4618 0.2351 0.1370 0.4036 0.3754 0.3204 het 2833.42 218 16 28898793 . T C 2833.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.664;DP=218;Dels=0.00;FS=0.519;HRun=1;HaplotypeScore=4.4424;MQ=59.58;MQ0=0;MQRankSum=0.648;QD=13.00;ReadPosRankSum=0.825;VQSLOD=5.8888;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,110:218:99:2863,0,3048 16 28944396 28944396 C G exonic CD19 nonsynonymous SNV CD19:NM_001178098:exon3:c.C520G:p.L174V,CD19:NM_001770:exon3:c.C520G:p.L174V 0.83 0.99 0.55 0.9 0.73 0.84 0.7293 0.9425 0.5338 0.9107 0.6881 0.6877 0.7351 0.8223 0.77 0.93 0.69 0.85 0.61 rs2904880 . . Benign|Benign Common_Variable_Immune_Deficiency\x2c_Recessive|not_specified RCV000325903.1|RCV000455749.1 MedGen|MedGen CN239296|CN169374 . . . . . . 0.196 0.277 T 0.0 0.026 B 0.0 0.013 B 0.664 0.104 N 1 0.090 P -0.69 0.019 N 1.35 0.346 T 1.09 0.013 N 0.01 0.007 -1.015 0.255 T 0.000 0.000 T . . . -0.073 0.087 1.937 0.819 0.135 0.001 0.008 N c -1.128 -1.083 1.000 0.747 0.442 0.072 0 2.82 0.319 0.146 0.159 0.136 0.221 0.060 0.216 0.007 0.100 5.762 0.174 . ENSG00000251417.1|ENSG00000178188.10|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000259982.1|ENSG00000251417.1|ENSG00000197165.6|ENSG00000259982.1|ENSG00000197165.6|ENSG00000251417.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000213658.6|ENSG00000178952.4|ENSG00000259982.1|ENSG00000259982.1|ENSG00000251417.1|ENSG00000176046.7|ENSG00000264455.1|ENSG00000271623.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000184110.10|ENSG00000176953.6|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000251417.1|ENSG00000197165.6|ENSG00000259982.1|ENSG00000259982.1|ENSG00000169682.13|ENSG00000205609.8|ENSG00000213658.6|ENSG00000178952.4|ENSG00000259982.1|ENSG00000178952.4|ENSG00000264455.1|ENSG00000259982.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000184110.10|ENSG00000196502.7|ENSG00000259982.1|ENSG00000251417.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000197165.6|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000213658.6|ENSG00000178952.4|ENSG00000259982.1|ENSG00000197165.6|ENSG00000259982.1|ENSG00000197165.6|ENSG00000184110.10|ENSG00000251417.1|ENSG00000205609.8|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000251417.1|ENSG00000197165.6|ENSG00000184110.10|ENSG00000213658.6|ENSG00000196502.7|ENSG00000251417.1|ENSG00000271623.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000178952.4|ENSG00000259982.1|ENSG00000178952.4|ENSG00000205609.8|ENSG00000259982.1|ENSG00000178952.4|ENSG00000271623.1|ENSG00000176953.6|ENSG00000251417.1|ENSG00000264455.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000205609.8|ENSG00000270424.1|ENSG00000184110.10|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000198156.6|ENSG00000259982.1|ENSG00000271623.1|ENSG00000197165.6|ENSG00000197272.2|ENSG00000259982.1|ENSG00000198156.6|ENSG00000251417.1|ENSG00000271623.1|ENSG00000233232.2|ENSG00000205609.8|ENSG00000270424.1|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000264455.1|ENSG00000197165.6|ENSG00000205609.8|ENSG00000178952.4|ENSG00000196502.7|ENSG00000259982.1|ENSG00000198156.6|ENSG00000169682.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.7183 0.9454 0.5466 0.7623 0.9155 0.6870 0.6823 0.7053 0.8234 0.7615 0.9418 0.5766 0.7947 0.9157 0.6842 0.6697 0.7244 het 1053.19 82 16 28944396 . C G 1053.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.130;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6426;MQ=58.23;MQ0=0;MQRankSum=0.505;QD=12.84;ReadPosRankSum=0.392;VQSLOD=5.1895;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:41,41:82:99:1083,0,1009 16 28995145 28995145 C T exonic SPNS1 synonymous SNV SPNS1:NM_001142449:exon9:c.C1137T:p.F379F,SPNS1:NM_001142451:exon10:c.C1203T:p.F401F,SPNS1:NM_032038:exon11:c.C1359T:p.F453F,SPNS1:NM_001142448:exon12:c.C1359T:p.F453F,SPNS1:NM_001142450:exon12:c.C1140T:p.F380F 0.054 0.0053 0.24 . 0.076 0.025 0.0812 0.0186 0.2504 0.0016 0.1245 0.0772 0.0839 0.0392 0.056 0.02 0.075 0.043 0.11 rs4788114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0876 0.0156 0.2413 0.0378 0.0010 0.1289 0.0761 0.0931 0.0381 0.0688 0.0156 0.2255 0.0265 0.0025 0.1265 0.0847 0.0825 het 2427.43 174 16 28995145 . C T 2427.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.662;DP=174;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8914;MQ=59.41;MQ0=0;MQRankSum=-0.542;QD=13.95;ReadPosRankSum=-0.463;VQSLOD=6.5720;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:87,87:174:99:2457,0,2291 16 28997997 28997997 G A exonic LAT synonymous SNV LAT:NM_014387:exon6:c.G447A:p.A149A,LAT:NM_001014987:exon7:c.G360A:p.A120A,LAT:NM_001014988:exon7:c.G357A:p.A119A,LAT:NM_001014989:exon8:c.G468A:p.A156A 0.24 0.11 0.18 0.31 0.31 0.31 0.2854 0.1362 0.1501 0.3251 0.2353 0.3139 0.3271 0.3571 0.26 0.14 0.33 0.2 0.3 rs1131543 COSM3754836;COSM3754837 1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2815 0.1313 0.1549 0.3551 0.3281 0.2247 0.3174 0.2926 0.3536 0.2437 0.1396 0.1766 0.36 0.3364 0.2288 0.2969 0.2806 het 1396.61 115 16 28997997 . G A 1396.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.795;DP=115;Dels=0.00;FS=7.257;HRun=0;HaplotypeScore=3.9929;MQ=59.09;MQ0=0;MQRankSum=-0.930;QD=12.14;ReadPosRankSum=-1.077;VQSLOD=4.5351;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,55:115:99:1427,0,1502 16 29708350 29708350 A G exonic QPRT nonsynonymous SNV QPRT:NM_001318249:exon2:c.A148G:p.T50A,QPRT:NM_001318250:exon3:c.A139G:p.T47A,QPRT:NM_014298:exon3:c.A583G:p.T195A 1. 1. 1. 1. 1. 1. 0.9997 0.9963 1 1 1 1.0000 1 1 1. 1. 1. 0.99 0.84 rs9932770 COSM4128940 1(thyroid) . . . . . . . . . . . 0.763 0.034 T 0.0 0.026 B 0.001 0.040 B 0.286 0.148 N 1 0.090 P 0.49 0.133 N 1.58 0.291 T 1.15 0.039 N 0.003 0.019 -1.006 0.281 T 0.000 0.000 T . . . -2.858 0.002 0.001 0.405 0.028 0.008 0.033 N c -2.347 -2.436 1.000 0.448 0.635 0.413 0 -9.46 0.005 -1.784 0.019 -2.909 0.002 0.000 0.063 0.004 0.083 1.974 0.032 Aldolase-type TIM barrel|Quinolinate phosphoribosyl transferase\x2c C-terminal . . 0.9998 0.9975 0.9999 1 1 1 1.0000 1 1 0.9992 0.9971 1 1 1 1 1 1 hom 799.79 27 16 29708350 . A G 799.79 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.62;VQSLOD=13.9135;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:72.18:833,72,0 16 29811319 29811319 C T exonic KIF22 synonymous SNV KIF22:NM_001256270:exon8:c.C1026T:p.I342I,KIF22:NM_007317:exon8:c.C1230T:p.I410I,KIF22:NM_001256269:exon9:c.C1026T:p.I342I . . . . . . 0.9696 0.7229 0.9869 0.9376 1 0.9987 0.9934 0.9982 0.91 0.73 1. 0.88 0.97 rs235648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9747 0.7212 0.9859 0.9884 0.9339 1 0.9991 0.9854 0.9980 0.9185 0.7288 0.9880 0.9834 0.9272 1 0.9987 0.9888 hom 2762.28 83 16 29811319 . C T 2762.28 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7753;MQ=59.78;MQ0=0;QD=33.28;VQSLOD=8.8240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2795,226,0 16 29814234 29814234 G A exonic KIF22 synonymous SNV KIF22:NM_001256270:exon9:c.G1221A:p.V407V,KIF22:NM_007317:exon9:c.G1425A:p.V475V,KIF22:NM_001256269:exon10:c.G1221A:p.V407V 0.9 0.7 0.97 0.93 1. 1. 0.9696 0.7226 0.9868 0.9377 1 0.9987 0.9934 0.9987 0.91 0.73 1. 0.88 0.97 rs2450399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9748 0.7216 0.9858 0.9885 0.9342 1 0.9991 0.9853 0.9986 0.9184 0.7287 0.9880 0.9834 0.9259 1 0.9987 0.9888 hom 3392.56 101 16 29814234 . G A 3392.56 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.17;MQ0=0;QD=33.59;VQSLOD=8.6756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3392,265,0 16 29825126 29825126 T C exonic PRRT2 synonymous SNV PRRT2:NM_001256442:exon2:c.T751C:p.L251L,PRRT2:NM_001256443:exon2:c.T751C:p.L251L,PRRT2:NM_145239:exon2:c.T751C:p.L251L 0.99 0.97 1. 1. 1. 1. 0.9980 0.9762 0.9997 1 1 1.0000 1 0.9999 0.99 0.97 1. 0.96 0.93 rs11150573 . . Benign|Benign\x2cBenign not_specified|Dystonia_10\x2cnot_specified RCV000127623.2|RCV000468034.1\x2cRCV000153784.2 MedGen|MedGen:OMIM\x2cMedGen CN169374|C1868682:128200\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9764 0.9991 1 1 1 1.0000 0.9996 1.0000 0.9932 0.9761 0.9976 1 1 1 0.9999 1 hom 2684.91 73 16 29825126 . T C 2684.91 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=36.78;VQSLOD=13.8136;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2718,214,0 16 29845269 29845269 C A exonic MVP synonymous SNV MVP:NM_001293204:exon4:c.C459A:p.P153P,MVP:NM_001293205:exon4:c.C459A:p.P153P,MVP:NM_005115:exon5:c.C459A:p.P153P,MVP:NM_017458:exon5:c.C459A:p.P153P 0.0034 . 0.0029 . 0.012 0.0031 0.0064 0.0006 0.0020 0.0001 0.0215 0.0083 0.0121 0.0022 0.006 0.0007 0.0087 . . rs113616507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0065 0.0005 0.0019 0.0016 0 0.0197 0.0088 0.0062 0.0019 0.0065 0.0011 0.0012 0.0033 0 0.0198 0.0071 0.0133 het 1802.69 192 16 29845269 . C A 1802.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.780;DP=192;DS;Dels=0.00;FS=5.783;HRun=0;HaplotypeScore=2.6200;MQ=59.20;MQ0=0;MQRankSum=1.683;QD=9.39;ReadPosRankSum=1.031;VQSLOD=4.0968;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:119,73:192:99:1833,0,3499 16 29912802 29912802 - GGT exonic ASPHD1 nonframeshift insertion ASPHD1:NM_181718:exon1:c.510_511insGGT:p.G172_P173insG 0.2 0.11 0.29 0.08 0.46 0.13 0.3384 0.1636 0.2098 0.0711 0.3355 0.4570 0.3690 0.1906 0.36 0.16 0.46 . . rs35784618 COSM1478775 5(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3310 0.1519 0.2323 0.5195 0.0669 0.3277 0.4508 0.3922 0.1814 0.3096 0.1595 0.2828 0.4866 0.0691 0.3279 0.4145 0.3634 het 1018.63 45 16 29912802 . G GGGT 1018.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.358;DP=45;FS=0.000;HRun=0;HaplotypeScore=178.4538;MQ=53.50;MQ0=0;MQRankSum=-0.542;QD=22.64;ReadPosRankSum=-0.948;set=variant2 GT:AD:DP:GQ:PL 0/1:30,13:45:99:1058,0,892 16 29994922 29994922 C T exonic TAOK2 synonymous SNV TAOK2:NM_001252043:exon13:c.C1359T:p.S453S,TAOK2:NM_004783:exon13:c.C1359T:p.S453S,TAOK2:NM_016151:exon13:c.C1359T:p.S453S 0.37 0.13 0.38 0.44 0.46 0.51 0.4352 0.1634 0.4254 0.4732 0.3979 0.4575 0.4294 0.5174 0.36 0.17 0.47 0.33 0.43 rs3814883 COSM3754843;COSM3754844;COSM3754842 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4397 0.1584 0.4226 0.4425 0.4795 0.4123 0.4615 0.4291 0.5162 0.3748 0.1659 0.4077 0.4636 0.4744 0.3835 0.4773 0.4216 het 4519.98 250 16 29994922 . C T 4519.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.219;DP=250;DS;Dels=0.00;FS=7.745;HRun=0;HaplotypeScore=11.9003;MQ=59.03;MQ0=0;MQRankSum=1.319;QD=18.08;ReadPosRankSum=0.784;VQSLOD=2.2216;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,143:250:99:3868,0,2327 16 29998200 29998200 A G exonic TAOK2 synonymous SNV TAOK2:NM_016151:exon16:c.A2607G:p.T869T,TAOK2:NM_001252043:exon17:c.A2268G:p.T756T 0.48 0.54 0.41 0.38 0.52 0.53 0.4922 0.5410 0.3730 0.4062 0.4133 0.5116 0.4767 0.5433 0.53 0.54 0.52 0.46 0.51 rs4077410 COSM3754845;COSM1162477 1(bone);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4873 0.5448 0.3854 0.5381 0.4153 0.4274 0.5142 0.4786 0.5417 0.5045 0.5533 0.3855 0.55 0.4329 0.4037 0.5156 0.4662 het 487.83 41 16 29998200 . A G 487.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.367;DP=41;Dels=0.00;FS=13.032;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.392;QD=11.90;ReadPosRankSum=-1.068;VQSLOD=4.0867;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,21:41:99:518,0,574 16 30018500 30018500 C T exonic DOC2A synonymous SNV DOC2A:NM_001282068:exon6:c.G648A:p.Q216Q,DOC2A:NM_003586:exon6:c.G648A:p.Q216Q,DOC2A:NM_001282062:exon7:c.G648A:p.Q216Q,DOC2A:NM_001282063:exon7:c.G648A:p.Q216Q 0.35 0.16 0.31 0.38 0.44 0.51 0.4095 0.1800 0.3143 0.4068 0.3920 0.4371 0.4036 0.5135 0.35 0.18 0.44 0.28 0.3 rs3935873 COSM3721545 1(liver);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4092 0.1714 0.3210 0.4386 0.4152 0.4054 0.4376 0.4027 0.5111 0.3605 0.1778 0.3206 0.4570 0.4328 0.3777 0.4526 0.4068 het 694.71 47 16 30018500 . C T 694.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.266;DP=47;Dels=0.00;FS=4.517;HRun=1;HaplotypeScore=2.7652;MQ=60.00;MQ0=0;MQRankSum=-0.372;QD=14.78;ReadPosRankSum=-1.394;VQSLOD=5.3327;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,23:47:99:725,0,692 16 30037128 30037128 A C exonic FAM57B synonymous SNV FAM57B:NM_001318504:exon4:c.T309G:p.G103G,FAM57B:NM_031478:exon4:c.T459G:p.G153G 0.44 0.47 0.38 0.38 0.47 0.48 0.4445 0.4742 0.3505 0.4035 0.3821 0.4597 0.4183 0.4777 0.47 0.47 0.47 0.4 0.48 rs11544328 COSM3932325 1(bone);1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4394 0.4764 0.3612 0.4470 0.4103 0.3938 0.4616 0.4322 0.4741 0.4528 0.4832 0.3628 0.4536 0.4279 0.3714 0.4633 0.4294 het 2958.53 215 16 30037128 . A C 2958.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.440;DP=215;DS;Dels=0.00;FS=0.676;HRun=3;HaplotypeScore=4.9294;MQ=59.27;MQ0=0;MQRankSum=-0.545;QD=13.76;ReadPosRankSum=-0.298;VQSLOD=5.2703;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,109:215:99:2989,0,2565 16 30097630 30097630 C T exonic TBX6 synonymous SNV TBX6:NM_004608:exon9:c.G1227A:p.P409P 0.25 0.022 0.31 0.46 0.34 0.21 0.3259 0.0675 0.3506 0.4664 0.4409 0.3545 0.3489 0.2309 0.25 0.081 0.34 0.23 0.074 rs2289292 COSM330328 2(haematopoietic_and_lymphoid_tissue);1(liver);3(thyroid) Benign not_specified RCV000242581.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3265 0.0591 0.3400 0.3133 0.4584 0.4179 0.3475 0.3433 0.2309 0.2831 0.0673 0.3321 0.3179 0.4342 0.4417 0.3455 0.3848 het 563.56 48 16 30097630 . C T 563.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.031;DP=48;Dels=0.00;FS=5.423;HRun=0;HaplotypeScore=2.4258;MQ=58.60;MQ0=0;MQRankSum=0.300;QD=11.74;ReadPosRankSum=0.072;VQSLOD=5.1703;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,22:48:99:594,0,573 16 30198151 30198151 A G exonic CORO1A synonymous SNV CORO1A:NM_007074:exon4:c.A336G:p.P112P,CORO1A:NM_001193333:exon5:c.A336G:p.P112P 0.79 0.95 0.74 0.93 0.57 0.71 0.6540 0.9019 0.7831 0.9299 0.6189 0.5531 0.6626 0.6847 0.67 0.89 0.55 0.8 0.47 rs1132812 COSM3721331 1(thyroid);1(upper_aerodigestive_tract) Benign not_specified RCV000429482.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6525 0.9064 0.7728 0.6598 0.9308 0.6030 0.5394 0.6297 0.6811 0.6722 0.8949 0.7351 0.6854 0.9442 0.6157 0.5267 0.6097 het 404.65 31 16 30198151 . A G 404.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.568;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.34;MQ0=0;MQRankSum=-0.853;QD=13.05;ReadPosRankSum=1.806;VQSLOD=5.6003;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,17:31:99:435,0,380 16 30376486 30376486 T C exonic TBC1D10B synonymous SNV TBC1D10B:NM_015527:exon3:c.A1104G:p.K368K 0.35 0.62 0.27 0.08 0.34 0.3 0.3365 0.5865 0.2116 0.0720 0.3493 0.3550 0.3197 0.3264 0.42 0.57 0.34 0.42 . rs8049108 COSM4417299;COSM4417298 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3285 0.5971 0.2206 0.3337 0.0726 0.3539 0.3579 0.3420 0.3271 0.4025 0.5779 0.2572 0.3046 0.0636 0.3550 0.3625 0.3391 het 1775.31 115 16 30376486 . T C 1775.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.604;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5977;MQ=58.23;MQ0=0;MQRankSum=1.608;QD=15.44;ReadPosRankSum=1.784;VQSLOD=4.7830;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,67:115:99:1805,0,1145 16 30393660 30393660 G A exonic SEPT1 synonymous SNV SEPT1:NM_052838:exon3:c.C171T:p.A57A 0.77 0.77 0.78 0.91 0.67 0.74 0.7138 0.7620 0.8128 0.9228 0.6824 0.6643 0.7190 0.7168 0.7 0.75 0.67 0.75 0.72 rs4787643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7151 0.7650 0.8054 0.7235 0.9215 0.6773 0.6573 0.7033 0.7116 0.7046 0.7603 0.7763 0.7517 0.9239 0.6766 0.6509 0.6902 het 1922.67 162 16 30393660 . G A 1922.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.259;DP=162;Dels=0.00;FS=0.611;HRun=0;HaplotypeScore=10.7084;MQ=58.72;MQ0=0;MQRankSum=1.826;QD=11.87;ReadPosRankSum=0.290;VQSLOD=3.9718;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,72:162:99:1953,0,2295 16 30408765 30408765 C T exonic ZNF48 nonsynonymous SNV ZNF48:NM_152652:exon2:c.C194T:p.A65V,ZNF48:NM_001214906:exon3:c.C194T:p.A65V,ZNF48:NM_001214909:exon3:c.C194T:p.A65V 0.66 0.41 0.72 0.91 0.64 0.72 0.6523 0.4395 0.7817 0.9234 0.6200 0.6196 0.6597 0.6981 0.57 0.45 0.63 0.58 0.66 rs12921440 COSM5021885 1(bone) . . . . . . . . . . . 0.339 0.369 T 0.0 0.026 B 0.0 0.013 B 0.925 0.085 N 1 0.090 P 0.345 0.112 N 3.52 0.067 T 0.15 0.072 N 0.414 0.472 -1.056 0.127 T 0.000 0.000 T . . . 0.478 0.140 7.262 0.965 0.293 0.023 0.065 N c -0.979 -1.001 1.000 0.437 0.672 0.522 0 -3.03 0.051 0.271 0.182 0.932 0.445 0.000 0.063 0.982 0.498 1.120 0.016 . ENSG00000198064.9|ENSG00000169203.12|ENSG00000254634.3|ENSG00000261740.1|ENSG00000169217.4|ENSG00000198064.9|ENSG00000169203.12|ENSG00000213599.5|ENSG00000180096.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Liver|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.6591 0.4340 0.7693 0.6187 0.9219 0.6195 0.6184 0.6408 0.6960 0.5871 0.4540 0.7231 0.6656 0.9253 0.6103 0.6102 0.6296 het 2328.12 218 16 30408765 . C T 2328.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.970;DP=218;Dels=0.00;FS=2.338;HRun=0;HaplotypeScore=4.7225;MQ=58.98;MQ0=0;MQRankSum=-0.518;QD=10.68;ReadPosRankSum=0.036;VQSLOD=5.4709;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,98:218:99:2358,0,3076 16 30456729 30456729 C T exonic SEPHS2 unknown UNKNOWN 0.0014 0.0008 0.0014 0.001 0.003 0.001 0.0036 0.0007 0.0022 0.0008 0.0032 0.0053 0 0.0020 0.0021 0.0003 0.0029 . . rs11557070 COSM4779369;COSM4779370 1(liver) . . . . . . . . . . . 0.112 0.289 T 0.001 0.067 B 0.002 0.063 B 0.350 0.138 N 1 0.196 N 0.695 0.181 N 0.95 0.433 T 0.12 0.056 N 0.161 0.695 -1.006 0.282 T 0.046 0.196 T 0.006 0.157 T -0.949 0.034 0.020 0.535 0.049 0.007 0.029 N c -1.421 -1.384 1.000 0.747 0.442 0.072 0 0.785 0.177 -0.732 0.050 -0.873 0.028 0.000 0.063 0.000 0.016 8.631 0.329 . . . 0.0022 0.0004 0.0009 0.0035 0.0002 0.0030 0.0033 0.0017 0.0014 0.0016 0.0003 0.0024 0.0033 0 0.0029 0.0021 0.0031 het 195.34 19 16 30456729 . C T 195.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.649;DP=19;Dels=0.00;FS=3.274;HRun=0;HaplotypeScore=2.2859;MQ=58.78;MQ0=0;MQRankSum=-1.236;QD=10.28;ReadPosRankSum=0.177;VQSLOD=4.7707;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:225,0,286 16 30518096 30518096 C T exonic ITGAL synonymous SNV ITGAL:NM_001114380:exon19:c.C2175T:p.N725N,ITGAL:NM_002209:exon21:c.C2427T:p.N809N 0.026 0.0061 0.039 0.001 0.093 0.002 0.0634 0.0174 0.0297 0.0007 0.0942 0.0937 0.0540 0.0145 0.075 0.015 0.11 0.022 0.098 rs2230434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0634 0.0165 0.0336 0.0257 0.0004 0.0854 0.1007 0.0607 0.0160 0.0683 0.0187 0.0383 0.0267 0 0.0864 0.1029 0.0673 het 3027.94 215 16 30518096 . C T 3027.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.545;DP=215;DS;Dels=0.00;FS=3.199;HRun=2;HaplotypeScore=7.7611;MQ=58.70;MQ0=0;MQRankSum=1.773;QD=14.08;ReadPosRankSum=-0.527;VQSLOD=4.4577;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,107:215:99:3058,0,3200 16 30536672 30536672 A G exonic ZNF768 synonymous SNV ZNF768:NM_024671:exon2:c.T789C:p.C263C 0.63 0.96 0.44 0.15 0.59 0.86 0.5768 0.9070 0.3231 0.1264 0.4576 0.5779 0.5618 0.8262 0.7 0.89 0.6 0.64 0.53 rs3751847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5571 0.9158 0.3390 0.5981 0.1347 0.4442 0.5843 0.5529 0.8247 0.6346 0.9066 0.3995 0.5795 0.1216 0.4490 0.5926 0.5787 hom 2604.80 77 16 30536672 . A G 2604.80 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8664;MQ=59.76;MQ0=0;QD=33.83;VQSLOD=9.3468;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2638,220,0 16 30536918 30536918 C G exonic ZNF768 nonsynonymous SNV ZNF768:NM_024671:exon2:c.G543C:p.E181D 0.27 0.49 0.27 0.005 0.38 0.13 0.2995 0.4741 0.1859 0.0038 0.2644 0.3643 0.2974 0.1767 0.41 0.46 0.39 0.32 0.38 rs10871453 . . . . . . . . . . . . . 0.1 0.305 T 0.963 0.537 D 0.543 0.471 P 0.000 0.457 D 0.862 0.283 P 0.695 0.181 N 3.21 0.074 T -0.5 0.158 N 0.134 0.399 -0.975 0.362 T 0.000 0.000 T . . . 1.093 0.199 11.18 0.998 0.858 0.836 0.424 D c -0.221 -0.211 1.000 0.458 0.696 0.567 0 0.635 0.168 -0.638 0.055 -0.434 0.058 0.000 0.063 0.959 0.439 3.762 0.081 . ENSG00000235560.3|ENSG00000235560.3|ENSG00000103549.17|ENSG00000235560.3|ENSG00000235560.3 Artery_Tibial|Breast_Mammary_Tissue|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.2931 0.4763 0.1925 0.3276 0.0035 0.2603 0.3771 0.3048 0.1798 0.3613 0.4702 0.2315 0.3212 0.0043 0.2534 0.3739 0.2990 hom 5298.44 182 16 30536918 . C G 5298.44 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.30;MQ0=0;QD=29.11;VQSLOD=7.7381;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5297,427,0 16 30566747 30566747 G A exonic ZNF764 nonsynonymous SNV ZNF764:NM_001172679:exon3:c.C992T:p.A331V,ZNF764:NM_033410:exon3:c.C995T:p.A332V 0.048 0.0068 0.098 . 0.1 0.059 0.1180 0.0315 0.1252 0.0011 0.1321 0.1390 0.1488 0.1099 0.071 0.017 0.099 0.087 0.025 rs17850402 COSM3749360 2(large_intestine) . . . . . . . . . . . 0.202 0.203 T 1.0 0.899 D 0.967 0.699 D 0.033 0.250 N 1.000 0.195 N -0.42 0.029 N 2.23 0.181 T -1.79 0.457 N 0.04 0.020 -1.032 0.199 T 0.001 0.003 T . . . 1.985 0.299 16.12 0.998 0.923 0.109 0.161 N c -0.699 -0.649 0.992 0.326 0.563 0.310 0 2.04 0.257 -2.370 0.011 1.045 0.669 0.000 0.063 0.978 0.483 8.222 0.305 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0788 0.0162 0.0733 0.1239 0.0004 0.0779 0.0995 0.0948 0.0724 0.0647 0.0170 0.0875 0.1192 0.0006 0.0745 0.0939 0.0768 het 206.61 19 16 30566747 . G A 206.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.184;DP=19;Dels=0.00;FS=1.871;HRun=0;HaplotypeScore=0.9933;MQ=60.00;MQ0=0;MQRankSum=1.021;QD=10.87;ReadPosRankSum=1.184;VQSLOD=5.4986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,10:19:99:237,0,219 16 30569349 30569349 C T exonic ZNF764 nonsynonymous SNV ZNF764:NM_001172679:exon1:c.G155A:p.R52Q,ZNF764:NM_033410:exon1:c.G155A:p.R52Q 0.0092 0.0015 0.019 . 0.024 0.0072 0.0224 0.0037 0.0336 0.0002 0.0347 0.0276 0.0193 0.0138 0.015 0.0034 0.022 0.022 0.0082 rs61744716 . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.968 0.701 D 0.005 0.329 N 0.986 0.246 N 2.21 0.624 M 4.24 0.026 T -3.73 0.709 D 0.051 0.146 -1.117 0.025 T 0.014 0.056 T . . . 7.295 0.948 34 0.999 0.994 0.208 0.210 N c 0.317 0.210 1.000 0.747 0.442 0.072 0 2.39 0.284 -0.057 0.116 0.867 0.377 0.000 0.063 0.999 0.750 7.226 0.250 Krueppel-associated box . . 0.0181 0.0030 0.0256 0.0100 5.888e-05 0.0232 0.0222 0.0168 0.0118 0.0196 0.0033 0.0251 0.0167 0.0006 0.0253 0.0294 0.0215 het 462.33 33 16 30569349 . C T 462.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.912;DP=33;Dels=0.00;FS=3.506;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=1.075;QD=14.01;ReadPosRankSum=1.548;VQSLOD=5.2264;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,19:33:99:492,0,377 16 30680655 30680655 G A exonic FBRS nonsynonymous SNV FBRS:NM_001105079:exon18:c.G2632A:p.G878S 0.0044 0.0015 0.0086 . 0.011 0.0031 0.0147 0.0039 0.0265 0.0002 0.0171 0.0176 0.0134 0.0085 0.011 0.003 0.015 0.011 . rs61738568 . . . . . . . . . . . . . 0.077 0.341 T 0.009 0.139 B 0.009 0.133 B 0.041 0.240 N 0.976 0.255 N 0 0.065 N 1.51 0.309 T -0.3 0.158 N 0.063 0.064 -1.020 0.238 T 0.014 0.055 T . . . 2.744 0.391 21.1 0.938 0.232 0.459 0.274 N c -0.555 -0.368 0.656 0.222 0.707 0.730 0 2.57 0.298 0.551 0.229 0.076 0.183 0.886 0.309 0.863 0.360 3.365 0.067 . . . 0.0130 0.0025 0.0208 0.0091 5.89e-05 0.0161 0.0153 0.0092 0.0083 0.0125 0.0026 0.0191 0.0132 0 0.0204 0.0172 0.0154 het 268 21 16 30680655 . G A 268 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.641;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.81;MQ0=0;MQRankSum=0.317;QD=12.76;ReadPosRankSum=0.387;VQSLOD=6.0303;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,10:21:99:298,0,351 16 30724070 30724070 G T exonic SRCAP synonymous SNV SRCAP:NM_006662:exon14:c.G2064T:p.R688R 0.97 0.9 0.99 1. 1. 1. 0.9906 0.8973 0.9959 1 1 0.9998 0.9978 0.9998 0.96 0.89 1. 0.95 1. rs4889500 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9930 0.8995 0.9959 0.9987 0.9999 1 0.9998 0.9974 0.9999 0.9710 0.8987 0.9952 1 1 1 0.9995 0.9959 hom 4023.85 138 16 30724070 . G T 4023.85 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8255;MQ=59.17;MQ0=0;QD=29.16;VQSLOD=8.7840;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4023,322,0 16 30734963 30734963 C A exonic SRCAP synonymous SNV SRCAP:NM_006662:exon25:c.C4218A:p.S1406S 0.98 0.93 0.99 1. 1. 1. 0.9939 0.9324 0.9972 1 1 0.9999 0.9989 0.9999 0.98 0.93 1. 0.96 1. rs4889502 . . Benign not_specified RCV000176569.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9328 0.9975 1 1 1 0.9999 0.9985 1.0000 0.9802 0.9306 0.9952 1 1 1 0.9997 0.9979 hom 6814.08 225 16 30734963 . C A 6814.08 Mask AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4688;MQ=59.28;MQ0=0;QD=30.15;VQSLOD=7.1620;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:3,221:225:99:6812,557,0 16 30779716 30779716 A G exonic RNF40 nonsynonymous SNV RNF40:NM_001207034:exon11:c.A1544G:p.Q515R,RNF40:NM_001207033:exon13:c.A1844G:p.Q615R,RNF40:NM_001286572:exon13:c.A1844G:p.Q615R,RNF40:NM_014771:exon13:c.A1844G:p.Q615R 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.89 rs7195142 COSM4590572 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1575.39 51 16 30779716 . A G 1575.39 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;QD=30.89;VQSLOD=8.4908;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1608,147,0 16 30780828 30780828 A G exonic RNF40 synonymous SNV RNF40:NM_001207034:exon15:c.A2193G:p.L731L,RNF40:NM_001207033:exon17:c.A2493G:p.L831L,RNF40:NM_001286572:exon17:c.A2493G:p.L831L,RNF40:NM_014771:exon17:c.A2493G:p.L831L 0.98 0.93 0.99 1. 1. 1. 0.9939 0.9322 0.9972 1 1 0.9999 0.9989 0.9999 0.98 0.93 1. 0.96 0.89 rs4889506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9954 0.9328 0.9975 1 1 1 0.9999 0.9985 1.0000 0.9802 0.9307 0.9952 1 1 1 0.9997 0.9980 hom 1587.89 45 16 30780828 . A G 1587.89 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.29;VQSLOD=14.6705;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1621,126,0 16 30964940 30964940 A G exonic ORAI3 synonymous SNV ORAI3:NM_152288:exon2:c.A663G:p.Q221Q 0.99 0.96 1. 1. 1. 1. 0.9965 0.9628 0.9977 1 1 0.9999 0.9989 0.9999 0.99 0.96 1. 0.94 0.97 rs9926903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9974 0.9635 0.9984 1 1 1 0.9999 0.9991 1.0000 0.9895 0.9635 0.9976 1 1 1 0.9998 1 hom 6884.98 198 16 30964940 . A G 6884.98 Mask AC=2;AF=1.00;AN=2;DP=198;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1826;MQ=59.18;MQ0=0;QD=34.77;VQSLOD=8.2243;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,198:198:99:6884,563,0 16 30970190 30970190 C T exonic SETD1A synonymous SNV SETD1A:NM_014712:exon2:c.C138T:p.H46H 0.0008 0.0008 . 0.003 . . 5.768e-05 0.0003 0 0.0002 0 1.499e-05 0 6.057e-05 0.0002 0.0005 . . . rs139688166 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.505e-05 0.0004 0 0 0.0003 0 1.795e-05 0.0002 3.249e-05 0.0002 0.0008 0 0 0 0 0 0 het 1971.94 140 16 30970190 . C T 1971.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.272;DP=140;Dels=0.00;FS=4.115;HRun=2;HaplotypeScore=2.5352;MQ=59.57;MQ0=0;MQRankSum=2.804;QD=14.09;ReadPosRankSum=-0.351;VQSLOD=3.1837;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,75:140:99:2002,0,1724 16 30999142 30999142 A G exonic HSD3B7 nonsynonymous SNV HSD3B7:NM_025193:exon7:c.A748G:p.T250A 0.49 0.21 0.57 0.9 0.64 0.26 0.5754 0.2780 0.5549 0.9147 0.6465 0.6367 0.5980 0.3168 0.52 0.29 0.64 0.52 0.53 rs9938550 COSM4129006 2(thyroid) Benign not_specified RCV000248338.2 MedGen CN169374 . . . . . . 0.483 0.081 T 0.0 0.026 B 0.001 0.040 B 0.796 0.094 N 1 0.090 P . . . -1.81 0.840 D -0.13 0.090 N 0.008 0.000 -0.972 0.369 T 0.000 0.000 T . . . -0.830 0.039 0.037 0.508 0.044 0.008 0.031 N c -1.125 -1.159 0.992 0.325 0.660 0.495 0 0.275 0.148 -0.602 0.057 0.076 0.183 0.000 0.063 0.033 0.150 1.683 0.026 3-beta hydroxysteroid dehydrogenase/isomerase|NAD(P)-binding domain ENSG00000103510.15|ENSG00000260911.1|ENSG00000260911.1|ENSG00000099377.9|ENSG00000099365.5|ENSG00000260911.1|ENSG00000260911.1|ENSG00000099365.5|ENSG00000099377.9|ENSG00000103510.15|ENSG00000260911.1|ENSG00000099365.5|ENSG00000099365.5|ENSG00000260911.1|ENSG00000103496.10|ENSG00000103510.15|ENSG00000103496.10|ENSG00000260911.1|ENSG00000103496.10|ENSG00000103510.15|ENSG00000099365.5|ENSG00000099377.9|ENSG00000103510.15|ENSG00000260911.1|ENSG00000099365.5|ENSG00000260911.1|ENSG00000099377.9|ENSG00000099365.5|ENSG00000099377.9|ENSG00000260911.1|ENSG00000099377.9|ENSG00000099377.9|ENSG00000260911.1|ENSG00000099377.9|ENSG00000103510.15|ENSG00000103496.10|ENSG00000260911.1|ENSG00000099365.5|ENSG00000103496.10|ENSG00000260911.1|ENSG00000260911.1|ENSG00000260911.1|ENSG00000099377.9|ENSG00000103510.15|ENSG00000260911.1|ENSG00000099377.9|ENSG00000099365.5|ENSG00000099377.9|ENSG00000103510.15|ENSG00000103496.10|ENSG00000260911.1|ENSG00000103496.10|ENSG00000260911.1|ENSG00000103510.15|ENSG00000099365.5|ENSG00000260911.1|ENSG00000099377.9|ENSG00000099365.5|ENSG00000103496.10|ENSG00000260911.1|ENSG00000099365.5|ENSG00000099377.9|ENSG00000103496.10|ENSG00000260911.1|ENSG00000196118.7|ENSG00000260911.1|ENSG00000167394.8|ENSG00000260911.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.5849 0.2627 0.5609 0.6733 0.9109 0.6545 0.6343 0.6163 0.3240 0.5447 0.2785 0.5742 0.6722 0.9165 0.6690 0.6233 0.5917 het 2994.03 225 16 30999142 . A G 2994.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.522;DP=225;Dels=0.00;FS=0.500;HRun=0;HaplotypeScore=4.3823;MQ=59.80;MQ0=0;MQRankSum=2.398;QD=13.31;ReadPosRankSum=0.202;VQSLOD=4.9007;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,112:225:99:3024,0,2904 16 30999462 30999462 T C exonic HSD3B7 synonymous SNV HSD3B7:NM_025193:exon7:c.T1068C:p.R356R 0.49 0.2 0.57 0.91 0.64 0.26 0.6033 0.3142 0.5914 0.9164 0.6780 0.6589 0.6256 0.3429 0.52 0.29 0.64 0.52 0.43 rs2305880 COSM3754851 1(thyroid);5(large_intestine) Benign not_specified RCV000248027.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5865 0.2650 0.5640 0.6743 0.9107 0.6575 0.6379 0.6171 0.3260 0.5449 0.2775 0.5755 0.6722 0.9171 0.6698 0.6240 0.5920 het 421.81 31 16 30999462 . T C 421.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.889;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=60.00;MQ0=0;MQRankSum=1.559;QD=13.61;ReadPosRankSum=0.811;VQSLOD=6.3608;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,16:31:99:452,0,360 16 31004169 31004169 T C exonic STX1B synonymous SNV STX1B:NM_052874:exon10:c.A840G:p.S280S 0.15 0.12 0.29 0.002 0.29 0.11 0.2413 0.1419 0.3202 0.0011 0.3211 0.2884 0.2325 0.1513 0.25 0.14 0.3 0.065 0.3 rs17855121 COSM3754854 1(bone);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2481 0.1379 0.3263 0.2035 0.0009 0.3172 0.2951 0.2473 0.1514 0.2523 0.1394 0.2864 0.2267 0.0031 0.3210 0.3252 0.2933 het 422.93 60 16 31004169 . T C 422.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.695;DP=60;Dels=0.00;FS=1.167;HRun=0;HaplotypeScore=0.9979;MQ=58.99;MQ0=0;MQRankSum=0.237;QD=7.05;ReadPosRankSum=-0.303;VQSLOD=5.8950;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,22:60:99:453,0,950 16 31072909 31072909 G A exonic ZNF668 nonsynonymous SNV ZNF668:NM_001172668:exon3:c.C1340T:p.A447V,ZNF668:NM_001172670:exon3:c.C1340T:p.A447V,ZNF668:NM_024706:exon3:c.C1340T:p.A447V,ZNF668:NM_001172669:exon4:c.C1409T:p.A470V 0.094 0.039 0.14 0.003 0.23 0.089 0.1637 0.0597 0.0907 0.0023 0.2274 0.2196 0.1986 0.1100 0.17 0.059 0.23 0.098 0.12 rs8046978 COSM3754855;COSM3754856 14(soft_tissue);2(large_intestine) . . . . . . . . . . . 0.329 0.132 T 0.0 0.026 B 0.0 0.013 B 0.864 0.089 N 1 0.090 P 0 0.065 N 3.2 0.074 T -0.4 0.164 N 0.083 0.077 -0.908 0.471 T 0.000 0.000 T . . . -0.273 0.070 0.764 0.969 0.309 0.115 0.165 N c -1.068 -1.080 1.000 0.473 0.672 0.522 0 -1.8 0.074 0.299 0.188 -0.247 0.091 0.000 0.063 0.000 0.016 4.053 0.092 . ENSG00000099365.5|ENSG00000260911.1|ENSG00000099365.5|ENSG00000099365.5|ENSG00000099377.9|ENSG00000260911.1|ENSG00000099365.5|ENSG00000099365.5|ENSG00000099377.9|ENSG00000099365.5|ENSG00000099377.9|ENSG00000099365.5|ENSG00000099377.9|ENSG00000260911.1|ENSG00000260911.1|ENSG00000099365.5|ENSG00000103496.10|ENSG00000260911.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Testis|Thyroid|Thyroid 0.1634 0.0546 0.1028 0.1425 0.0021 0.2279 0.2256 0.1768 0.1143 0.1657 0.0614 0.1181 0.1656 0.0019 0.2281 0.2307 0.1940 hom 3362.38 119 16 31072909 . G A 3362.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6647;MQ=59.22;MQ0=0;MQRankSum=1.088;QD=28.26;ReadPosRankSum=0.414;VQSLOD=7.7538;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,114:119:99:3322,268,0 16 31075708 31075708 C G exonic ZNF668 nonsynonymous SNV ZNF668:NM_001172668:exon2:c.G73C:p.V25L,ZNF668:NM_001172670:exon2:c.G73C:p.V25L,ZNF668:NM_024706:exon2:c.G73C:p.V25L,ZNF668:NM_001172669:exon3:c.G142C:p.V48L 0.98 0.94 1. 1. 1. 1. 0.9957 0.9528 0.9973 1 1 0.9999 0.9967 0.9999 0.99 0.96 1. 0.96 0.97 rs2032917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9532 0.9980 0.9994 1 1 0.9999 0.9984 0.9999 0.9858 0.9509 0.9964 0.9967 1 1 0.9995 1 hom 2228.69 69 16 31075708 . C G 2228.69 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.57;MQ0=0;QD=32.30;VQSLOD=8.7230;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2262,175,0 16 31141826 31141826 A G exonic KAT8 synonymous SNV KAT8:NM_032188:exon9:c.A1056G:p.P352P,KAT8:NM_182958:exon9:c.A1056G:p.P352P 0.99 0.95 1. 1. 1. 1. 0.9956 0.9525 0.9984 0.9994 1 0.9998 0.9978 0.9999 0.98 0.95 1. 0.88 0.89 rs1549295 COSM4129015;COSM4129016 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9519 0.9977 1 0.9994 1 0.9998 0.9984 0.9999 0.9868 0.9545 0.9940 1 1 1 0.9997 0.9969 hom 1558.16 53 16 31141826 . A G 1558.16 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.77;MQ0=0;QD=29.40;VQSLOD=8.2904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:53:99:1591,138,0 16 31141880 31141880 A G exonic KAT8 synonymous SNV KAT8:NM_032188:exon9:c.A1110G:p.L370L,KAT8:NM_182958:exon9:c.A1110G:p.L370L 0.96 0.86 0.99 1. 1. 1. 0.9896 0.8844 0.9966 1 1 0.9997 0.9978 0.9999 0.96 0.89 1. 0.88 0.89 rs1549294 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9917 0.8792 0.9955 1 1 1 0.9997 0.9971 0.9999 0.9680 0.8888 0.9893 1 1 1 0.9994 0.9969 hom 2033.95 62 16 31141880 . A G 2033.95 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;QD=32.81;VQSLOD=9.3814;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:2067,162,0 16 31153105 31153105 A G exonic PRSS36 synonymous SNV PRSS36:NM_001258290:exon11:c.T1683C:p.D561D,PRSS36:NM_001258291:exon11:c.T1698C:p.D566D,PRSS36:NM_173502:exon11:c.T1698C:p.D566D 0.88 0.56 0.97 1. 1. 1. 0.9613 0.6067 0.9817 0.9997 1 0.9947 0.9812 0.9988 0.87 0.62 1. 0.75 0.96 rs1549300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9684 0.6016 0.9778 0.9525 0.9998 1.0000 0.9973 0.9767 0.9990 0.8875 0.6121 0.9737 0.9570 1 1 0.9973 0.9755 hom 5075.11 154 16 31153105 . A G 5075.11 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3976;MQ=58.91;MQ0=0;QD=32.96;VQSLOD=8.2780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:5075,403,0 16 31154146 31154146 G A exonic PRSS36 synonymous SNV PRSS36:NM_001258290:exon9:c.C1269T:p.S423S,PRSS36:NM_001258291:exon9:c.C1269T:p.S423S,PRSS36:NM_173502:exon9:c.C1269T:p.S423S 0.49 0.16 0.55 0.89 0.7 0.26 0.6873 0.3485 0.6728 0.9173 0.7337 0.7508 0.7004 0.3948 0.57 0.27 0.73 0.27 0.41 rs1549299 COSM3749361 1(oesophagus);2(thyroid);15(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6332 0.2172 0.5960 0.7225 0.9128 0.6788 0.7132 0.6785 0.3343 0.5653 0.2215 0.6129 0.6954 0.9068 0.6764 0.6935 0.6219 hom 434.70 17 16 31154146 . G A 434.70 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.57;VQSLOD=13.4728;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:36.11:468,36,0 16 31195279 31195279 C T exonic FUS synonymous SNV FUS:NM_001170634:exon4:c.C288T:p.Y96Y,FUS:NM_001170937:exon4:c.C291T:p.Y97Y,FUS:NM_004960:exon4:c.C291T:p.Y97Y 0.47 0.23 0.52 0.74 0.55 0.41 0.5186 0.2611 0.5348 0.7513 0.4678 0.5502 0.5485 0.4384 0.46 0.27 0.55 0.37 0.44 rs1052352 COSM5619317;COSM5619318 1(breast) Benign|Benign not_specified|Amyotrophic_Lateral_Sclerosis\x2c_Dominant RCV000244413.1|RCV000277026.1 MedGen|MedGen CN169374|CN239175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5277 0.2531 0.5363 0.6971 0.7461 0.4880 0.5432 0.5609 0.4449 0.4526 0.2611 0.5477 0.6954 0.7423 0.4782 0.5138 0.4959 hom 6249.70 199 16 31195279 . C T 6249.70 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.607;DP=199;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1798;MQ=58.97;MQ0=0;MQRankSum=-1.429;QD=31.41;ReadPosRankSum=-0.946;VQSLOD=5.9086;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,196:199:99:6186,489,0 16 31230463 31230463 C T exonic TRIM72 synonymous SNV TRIM72:NM_001008274:exon3:c.C438T:p.R146R 0.57 0.45 0.59 0.74 0.68 0.42 0.6553 0.5044 0.6353 0.7608 0.6425 0.7089 0.6667 0.4936 0.62 0.47 0.7 0.64 0.48 rs7186832 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6285 0.4503 0.5919 0.7606 0.7445 0.6183 0.6822 0.6625 0.4603 0.6086 0.4593 0.6256 0.7616 0.7475 0.6124 0.6740 0.6327 hom 600.30 20 16 31230463 . C T 600.30 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=30.02;VQSLOD=8.9174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:54.16:633,54,0 16 31336719 31336719 G A exonic ITGAM synonymous SNV ITGAM:NM_000632:exon20:c.G2499A:p.T833T,ITGAM:NM_001145808:exon20:c.G2502A:p.T834T 0.29 0.083 0.33 0.66 0.35 0.12 0.3404 0.1293 0.3559 0.6907 0.3195 0.3694 0.3345 0.1604 0.29 0.14 0.37 0.38 . rs1143682 COSM1128977 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3499 0.1240 0.3584 0.5136 0.6830 0.3361 0.3662 0.3667 0.1620 0.3069 0.1371 0.3720 0.4669 0.6867 0.3288 0.3507 0.3405 het 1230.66 105 16 31336719 . G A 1230.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.205;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5367;MQ=59.56;MQ0=0;MQRankSum=0.604;QD=11.72;ReadPosRankSum=-0.518;VQSLOD=6.6159;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,49:105:99:1261,0,1436 16 31336888 31336888 C T exonic ITGAM nonsynonymous SNV ITGAM:NM_000632:exon21:c.C2573T:p.A858V,ITGAM:NM_001145808:exon21:c.C2576T:p.A859V 0.16 0.19 0.13 0.028 0.18 0.27 0.1627 0.1886 0.0954 0.0132 0.1221 0.1717 0.1993 0.2505 0.16 0.18 0.16 0.14 . rs1143683 COSM3736142 4(soft_tissue);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.143 0.253 T 0.006 0.126 B 0.015 0.162 B . . . 1 0.090 P 1.275 0.323 L 0.62 0.533 T -1.32 0.330 N 0.013 0.002 -1.026 0.216 T 0.000 0.001 T . . . 0.567 0.148 7.921 0.715 0.093 0.025 0.069 N c -1.085 -1.128 0.003 0.100 0.706 0.609 0 -1.51 0.082 -0.068 0.114 -0.386 0.064 0.000 0.063 0.000 0.016 10.869 0.459 Integrin alpha-2|Integrin domain . . 0.1576 0.1892 0.1023 0.2397 0.0119 0.1268 0.1640 0.1785 0.2526 0.1527 0.1814 0.1160 0.2881 0.0099 0.1243 0.1577 0.1455 het 1014.26 76 16 31336888 . C T 1014.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.024;DP=76;Dels=0.00;FS=0.968;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;MQRankSum=-0.060;QD=13.35;ReadPosRankSum=-1.140;VQSLOD=6.4042;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,43:76:99:1044,0,859 16 31343005 31343005 C T exonic ITGAM nonsynonymous SNV ITGAM:NM_000632:exon30:c.C3436T:p.P1146S,ITGAM:NM_001145808:exon30:c.C3439T:p.P1147S 0.17 0.22 0.13 0.028 0.18 0.27 0.1989 0.2474 0.1419 0.0168 0.1586 0.2018 0.2380 0.2871 0.17 0.19 0.15 0.15 . rs1143678 COSM4986863 4(soft_tissue) . . . . . . . . . . . 0.019 0.506 D 0.722 0.404 P 0.231 0.366 B . . . 1 0.090 P 1.845 0.488 L 0.29 0.589 T -1.67 0.399 N 0.072 0.061 -1.099 0.042 T 0.000 0.001 T . . . 2.806 0.398 21.4 0.940 0.235 0.286 0.234 N c -0.398 -0.513 1.000 0.747 0.443 0.080 1 3.25 0.362 1.221 0.319 0.931 0.441 0.001 0.137 0.183 0.213 7.047 0.241 . . . 0.1546 0.2094 0.1019 0.2086 0.0116 0.1253 0.1597 0.1758 0.2505 0.1599 0.2074 0.1181 0.2781 0.0105 0.1243 0.1577 0.1449 het 159.09 27 16 31343005 . C T 159.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.558;DP=27;Dels=0.04;FS=3.769;HRun=1;HaplotypeScore=1.8606;MQ=57.58;MQ0=0;MQRankSum=1.142;QD=5.68;ReadPosRankSum=0.982;VQSLOD=3.1883;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,8:27:99:189,0,477 16 31374535 31374535 C G exonic ITGAX nonsynonymous SNV ITGAX:NM_000887:exon14:c.C1550G:p.P517R,ITGAX:NM_001286375:exon14:c.C1550G:p.P517R 0.3 0.1 0.32 0.68 0.34 0.12 0.3313 0.1407 0.3352 0.7037 0.3096 0.3559 0.3285 0.1609 0.29 0.16 0.37 0.41 0.33 rs2230429 COSM4129026 1(thyroid) . . . . . . . . . . . 0.003 0.682 D 0.996 0.670 D 0.727 0.533 P . . . 0.900 0.277 P 2.985 0.859 M 1.35 0.346 T -8.12 0.967 D 0.195 0.449 -1.032 0.199 T 0.000 0.000 T . . . 4.365 0.584 24.1 0.997 0.828 0.684 0.335 D c 0.373 0.332 0.499 0.209 0.706 0.609 0 4.03 0.459 1.666 0.368 0.803 0.325 0.728 0.287 0.991 0.552 13.447 0.604 . . . 0.3396 0.1316 0.3390 0.4903 0.6932 0.3248 0.3520 0.3511 0.1618 0.3010 0.1474 0.3461 0.4272 0.6981 0.3195 0.3358 0.3326 het 1847.42 157 16 31374535 . C G 1847.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.920;DP=157;Dels=0.00;FS=2.168;HRun=0;HaplotypeScore=5.4035;MQ=59.26;MQ0=0;MQRankSum=0.815;QD=11.77;ReadPosRankSum=1.292;VQSLOD=4.8886;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,81:157:99:1877,0,1991 16 31391381 31391381 G A exonic ITGAX nonsynonymous SNV ITGAX:NM_000887:exon26:c.G3055A:p.V1019M,ITGAX:NM_001286375:exon26:c.G3055A:p.V1019M . . . . . . 0.0004 0 0.0002 0 0.0003 0.0006 0 6.083e-05 0.001 . 0.0015 . . rs142434946 . . . . . . . . . . . . . 0.064 0.367 T 0.854 0.467 P 0.324 0.461 B . . . 0.918 0.273 N 2.71 0.795 M 0.91 0.449 T -1.85 0.433 N 0.307 0.512 -0.987 0.334 T 0.128 0.437 T 0.013 0.329 T 3.961 0.533 23.6 0.996 0.712 0.548 0.294 D c -0.028 -0.083 0.001 0.082 0.706 0.609 0 3.32 0.370 1.739 0.376 0.902 0.416 0.955 0.331 0.447 0.262 10.143 0.417 Integrin domain . . 0.0005 0 0.0001 0 5.798e-05 0.0003 0.0009 0.0005 0.0001 0.0007 0.0001 0 0 0.0006 0.0003 0.0013 0 het 1053.78 94 16 31391381 . G A 1053.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.602;DP=94;Dels=0.00;FS=1.750;HRun=0;HaplotypeScore=1.8490;MQ=58.28;MQ0=0;MQRankSum=1.754;QD=11.21;ReadPosRankSum=-1.167;VQSLOD=3.7410;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,41:94:99:1084,0,1352 16 31422429 31422429 T C exonic ITGAD synonymous SNV ITGAD:NM_001318185:exon13:c.T1389C:p.S463S,ITGAD:NM_005353:exon13:c.T1389C:p.S463S 0.91 0.91 0.96 0.82 0.94 0.96 0.9317 0.9246 0.9662 0.8194 0.9116 0.9342 0.9240 0.9688 0.94 0.93 0.94 0.95 0.93 rs12444660 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9332 0.9243 0.9641 0.9347 0.8133 0.9107 0.9386 0.9304 0.9678 0.9294 0.9289 0.9547 0.9467 0.8147 0.9178 0.9437 0.9202 hom 5679.97 187 16 31422429 . T C 5679.97 Mask AC=2;AF=1.00;AN=2;DP=187;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8932;MQ=58.73;MQ0=0;QD=30.37;VQSLOD=8.7350;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,187:187:99:5679,454,0 16 31473275 31473275 A G exonic ARMC5 nonsynonymous SNV ARMC5:NM_001105247:exon2:c.A508G:p.I170V,ARMC5:NM_024742:exon2:c.A508G:p.I170V,ARMC5:NM_001301820:exon3:c.A604G:p.I202V,ARMC5:NM_001288767:exon4:c.A793G:p.I265V 0.023 0.0023 0.02 . 0.057 0.044 0.0347 0.0068 0.0211 0.0005 0.0278 0.0437 0.0511 0.0440 0.034 0.0087 0.046 0.033 0.033 rs35923277 . . . . . . . . . . . . . 0.266 0.187 T 0.311 0.405 B 0.303 0.522 B 0.000 0.537 D 0.840 0.350 D 1.1 0.281 L 1.11 0.389 T -0.51 0.160 N 0.284 0.343 -1.090 0.055 T 0.020 0.085 T . . . 1.113 0.201 11.29 0.998 0.890 0.791 0.389 D c 0.014 0.098 1.000 0.747 0.719 0.830 0 4.15 0.478 3.555 0.532 1.197 0.919 1.000 0.715 1.000 0.888 11.209 0.478 Armadillo-like helical|Armadillo-type fold ENSG00000260740.2 Lung 0.0364 0.0064 0.0236 0.0899 0.0002 0.0284 0.0440 0.0405 0.0456 0.0279 0.0070 0.0239 0.0762 0 0.0301 0.0415 0.0337 het 1499.84 145 16 31473275 . A G 1499.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.249;DP=145;Dels=0.00;FS=1.355;HRun=0;HaplotypeScore=5.5232;MQ=59.25;MQ0=0;MQRankSum=2.072;QD=10.34;ReadPosRankSum=1.366;VQSLOD=4.2699;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,63:145:99:1530,0,2202 16 31476458 31476458 C T exonic ARMC5 nonsynonymous SNV ARMC5:NM_024742:exon4:c.C2114T:p.A705V 0.3 0.051 0.57 0.45 0.45 0.16 0.3926 0.1023 0.6244 0.4547 0.3909 0.4339 0.3926 0.1966 0.32 0.11 0.43 0.22 0.34 rs11150624 COSM1599969 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . 0.0 0.912 D 0.043 0.202 B 0.011 0.145 B . . . 1 0.090 P . . . 2.0 0.215 T -0.38 0.134 N 0.019 0.004 -0.928 0.444 T 0.000 0.000 T . . . -0.220 0.074 0.998 0.319 0.018 0.016 0.052 N c -1.649 -1.802 0.988 0.312 0.563 0.310 0 -7.27 0.013 -0.938 0.040 -1.750 0.007 0.000 0.063 0.000 0.016 4.342 0.105 Armadillo-type fold ENSG00000140682.14|ENSG00000140675.8|ENSG00000140682.14|ENSG00000140682.14|ENSG00000260740.2|ENSG00000140675.8|ENSG00000260740.2|ENSG00000140675.8|ENSG00000140682.14|ENSG00000140675.8 Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Colon_Transverse|Colon_Transverse|Lung|Lung|Nerve_Tibial|Stomach 0.4047 0.0974 0.6092 0.4728 0.4531 0.3967 0.4298 0.4330 0.1952 0.3375 0.1071 0.5600 0.4934 0.4437 0.3989 0.4259 0.4057 het 1913.90 143 16 31476458 . C T 1913.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.881;DP=143;Dels=0.00;FS=0.625;HRun=0;HaplotypeScore=0.9983;MQ=59.09;MQ0=0;MQRankSum=0.820;QD=13.38;ReadPosRankSum=1.009;VQSLOD=6.5534;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,74:143:99:1944,0,1715 16 31926619 31926619 G A exonic ZNF267 nonsynonymous SNV ZNF267:NM_003414:exon4:c.G1049A:p.C350Y,ZNF267:NM_001265588:exon5:c.G953A:p.C318Y 0.85 0.52 0.94 1. 0.97 0.98 0.9402 0.6006 0.9684 1 0.9710 0.9661 0.9547 0.9850 0.84 0.61 0.97 0.74 0.9 rs3850114 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.555 0.005 N 2.83 0.108 T 6.46 0.000 N 0.017 0.127 -0.988 0.331 T 0.000 0.000 T . . . -1.743 0.012 0.002 0.467 0.037 0.000 0.001 N c -1.918 -1.874 0.015 0.127 0.707 0.730 0 0.458 0.158 -0.507 0.064 -0.194 0.103 0.000 0.063 0.032 0.149 1.412 0.021 Zinc finger C2H2-type/integrase DNA-binding domain ENSG00000131797.8 Nerve_Tibial 0.9480 0.5947 0.9627 0.9533 0.9999 0.9748 0.9676 0.9505 0.9855 0.8674 0.6003 0.9582 0.9603 1 0.9728 0.9705 0.9644 hom 5173.85 172 16 31926619 . G A 5173.85 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9510;MQ=57.81;MQ0=0;QD=30.08;VQSLOD=7.9141;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5173,406,0 16 46655210 46655210 A G exonic SHCBP1 nonsynonymous SNV SHCBP1:NM_001324318:exon1:c.T62C:p.M21T,SHCBP1:NM_001324319:exon1:c.T62C:p.M21T,SHCBP1:NM_024745:exon1:c.T62C:p.M21T 0.98 0.94 1. 1. 1. 1. 0.9955 0.9458 0.9970 1 1 1.0000 0.9977 0.9999 0.98 0.95 1. 0.96 0.95 rs6598679 COSM3754898 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.929 0.023 T 0.0 0.026 B 0.0 0.013 B 0.164 0.031 N 1 0.090 P -1.245 0.008 N 2.06 0.205 T 0.74 0.020 N 0.041 0.021 -1.005 0.283 T 0.000 0.000 T . . . -2.339 0.004 0.001 0.410 0.029 0.000 0.003 N c -1.596 -1.583 1.000 0.747 0.442 0.072 0 -0.124 0.128 -0.324 0.080 -1.343 0.013 0.000 0.063 0.000 0.016 3.327 0.066 . . . 0.9963 0.9464 0.9968 1 1 1 0.9999 0.9983 0.9998 0.9855 0.9495 0.9928 1 1 1 0.9999 1 hom 2123.76 75 16 46655210 . A G 2123.76 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=28.32;VQSLOD=8.0488;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2157,183,0 16 46696284 46696284 G A exonic VPS35 synonymous SNV VPS35:NM_018206:exon15:c.C1938T:p.H646H 0.97 0.91 1. 1. 1. 1. 0.9925 0.9180 0.9964 1 1 0.9999 0.9967 0.9999 0.97 0.92 1. 0.94 1. rs168745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9941 0.9179 0.9958 0.9994 1 1 0.9999 0.9967 0.9998 0.9776 0.9215 0.9916 1 1 1 0.9999 1 hom 3046.85 91 16 46696284 . G A 3046.85 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8401;MQ=59.44;MQ0=0;QD=33.48;VQSLOD=10.0973;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3080,250,0 16 46771808 46771808 A G exonic MYLK3 synonymous SNV MYLK3:NM_182493:exon3:c.T816C:p.N272N 0.0006 . . . 0.003 . 0.0006 0.0003 0.0003 0 0.0002 0.0008 0 0.0002 0.0012 0.0002 0.0016 . . rs55889699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0006 0.0002 0.0002 0 0 8.972e-05 0.0011 0.0007 0.0004 0.0008 0.0003 0 0 0 0 0.0015 0 het 1810.07 135 16 46771808 . A G 1810.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.618;DP=135;Dels=0.00;FS=5.485;HRun=0;HaplotypeScore=9.3926;MQ=58.79;MQ0=0;MQRankSum=0.126;QD=13.41;ReadPosRankSum=0.647;VQSLOD=3.5332;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,73:135:99:1840,0,1728 16 46773999 46773999 C A exonic MYLK3 nonsynonymous SNV MYLK3:NM_182493:exon2:c.G538T:p.V180L 0.47 0.12 0.46 0.55 0.6 0.71 0.5525 0.1818 0.4539 0.5781 0.6138 0.5896 0.5628 0.6667 0.46 0.2 0.59 0.38 0.52 rs28407821 COSM148070;COSM148071 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.002 0.090 B 0.001 0.040 B 0.432 0.127 N 1.000 0.281 P 0.55 0.145 N -0.66 0.724 T -0.99 0.262 N 0.108 0.115 -0.930 0.442 T 0.000 0.000 T . . . 0.254 0.118 5.236 0.856 0.155 0.338 0.247 N c -0.953 -0.949 1.000 0.747 0.554 0.246 0 2.57 0.298 1.084 0.302 0.004 0.136 0.030 0.202 0.013 0.120 5.324 0.151 . ENSG00000171241.4|ENSG00000261239.2|ENSG00000171241.4 Brain_Frontal_Cortex_BA9|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg 0.5561 0.1778 0.4528 0.5475 0.5850 0.6101 0.5925 0.5647 0.6699 0.4691 0.1779 0.4868 0.5695 0.5846 0.6010 0.5866 0.5573 het 3839.76 237 16 46773999 . C A 3839.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.912;DP=237;DS;Dels=0.00;FS=1.597;HRun=1;HaplotypeScore=3.8641;MQ=59.23;MQ0=0;MQRankSum=0.498;QD=16.20;ReadPosRankSum=0.884;VQSLOD=5.9414;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,133:237:99:3300,0,2555 16 48122582 48122582 G A exonic ABCC12 nonsynonymous SNV ABCC12:NM_033226:exon24:c.C3349T:p.R1117C 0.59 0.11 0.53 0.89 0.79 0.77 0.7190 0.2024 0.5151 0.8961 0.8448 0.7776 0.7841 0.8033 0.6 0.23 0.78 0.51 0.71 rs7193955 . . . . . . . . . . . . . 0.032 0.446 D 0.004 0.112 B 0.006 0.112 B 0.159 0.177 N 1 0.090 P 1.585 0.400 L -2.74 0.907 D -4.16 0.753 D 0.145 0.171 -0.981 0.348 T 0.000 0.000 T . . . 3.025 0.424 22.3 0.980 0.369 0.080 0.138 N c -0.736 -0.724 0.031 0.140 0.554 0.246 0 2.67 0.306 -0.155 0.100 -0.258 0.088 0.000 0.063 0.503 0.271 3.951 0.088 P-loop containing nucleoside triphosphate hydrolase . . 0.7233 0.1925 0.5281 0.7844 0.8923 0.8398 0.7756 0.7510 0.8065 0.6282 0.2052 0.5635 0.8033 0.8938 0.8469 0.7845 0.7714 hom 3679.02 111 16 48122582 . G A 3679.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.361;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.58;MQ0=0;MQRankSum=-0.898;QD=33.14;ReadPosRankSum=0.787;VQSLOD=9.2624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,109:111:99:3649,259,0 16 48174765 48174765 C A exonic ABCC12 stopgain ABCC12:NM_033226:exon4:c.G490T:p.G164X 0.0012 0.0008 . . 0.002 0.0031 0.0032 0.0004 0.0006 0 0.0009 0.0034 0.0011 0.0087 0.0014 0.0002 0.002 . . rs141807269 . . . . . . . . . . . . . . . . . . . . . . 0.005 0.335 N 1 0.810 A . . . . . . . . . . . . . . . . . . . . 3.819 0.516 23.4 0.939 0.233 0.571 0.300 D c -0.118 -0.492 0.990 0.320 0.487 0.133 0 -5.7 0.022 1.102 0.305 -1.611 0.009 0.793 0.294 0.000 0.016 9.205 0.363 ABC transporter type 1\x2c transmembrane domain . . 0.0027 0.0004 0.0006 0.0003 0 0.0008 0.0030 0.0036 0.0084 0.0012 0.0002 0.0024 0 0 0.0011 0.0018 0.0031 het 1610.44 157 16 48174765 . C A 1610.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.774;DP=157;Dels=0.00;FS=0.613;HRun=2;HaplotypeScore=2.9792;MQ=59.85;MQ0=0;MQRankSum=0.994;QD=10.26;ReadPosRankSum=0.657;VQSLOD=4.4362;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,62:157:99:1640,0,2640 16 48175235 48175235 G T exonic ABCC12 nonsynonymous SNV ABCC12:NM_033226:exon3:c.C305A:p.A102E 0.15 0.43 0.088 . 0.087 0.011 0.0909 0.3718 0.0460 0.0001 0.1119 0.0808 0.0914 0.0257 0.17 0.35 0.071 0.22 0.041 rs16945874 COSM3754901 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.015 0.162 B 0.033 0.250 N 1.000 0.090 P 0.105 0.085 N 1.01 0.411 T -0.62 0.183 N 0.042 0.062 -0.953 0.405 T 0.000 0.000 T . . . -1.328 0.021 0.004 0.280 0.014 0.014 0.047 N c -1.346 -1.268 0.929 0.269 0.487 0.133 0 2.93 0.329 0.704 0.252 -0.386 0.064 0.001 0.137 0.383 0.251 7.871 0.286 . . . 0.0837 0.3745 0.0530 0.0587 0.0002 0.1086 0.0795 0.0730 0.0267 0.1636 0.3705 0.0597 0.0497 0 0.1046 0.0871 0.0990 het 2082.64 170 16 48175235 . G T 2082.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.374;DP=170;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=59.34;MQ0=0;MQRankSum=0.155;QD=12.25;ReadPosRankSum=-0.938;VQSLOD=6.9944;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,80:170:99:2113,0,2304 16 48201432 48201432 T C exonic ABCC11 nonsynonymous SNV ABCC11:NM_033151:exon28:c.A4031G:p.H1344R,ABCC11:NM_145186:exon28:c.A3917G:p.H1306R,ABCC11:NM_032583:exon29:c.A4031G:p.H1344R 0.17 0.39 0.14 0.045 0.17 0.033 0.1580 0.3533 0.0868 0.0265 0.1945 0.1784 0.1916 0.0549 0.23 0.34 0.17 0.27 0.16 rs16945916 COSM3754902 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.426 N 1.000 0.197 P -2.585 0.000 N -0.81 0.740 T 3.95 0.001 N 0.028 0.009 -0.980 0.349 T 0.000 0.000 T . . . -0.994 0.032 0.016 0.731 0.099 0.070 0.129 N c -1.297 -1.070 1.000 0.400 0.487 0.133 0 2.03 0.256 2.675 0.463 -0.427 0.059 0.994 0.380 0.866 0.362 5.22 0.146 AAA+ ATPase domain|ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.1535 0.3530 0.0988 0.1688 0.0281 0.1920 0.1792 0.1673 0.0557 0.2195 0.3531 0.0990 0.1722 0.0340 0.1860 0.1809 0.1670 het 2174.76 168 16 48201432 . T C 2174.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.381;DP=168;Dels=0.00;FS=1.954;HRun=0;HaplotypeScore=2.9561;MQ=59.78;MQ0=0;MQRankSum=-0.181;QD=12.94;ReadPosRankSum=0.105;VQSLOD=6.4743;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,83:168:99:2205,0,2356 16 48227862 48227862 G A exonic ABCC11 synonymous SNV ABCC11:NM_033151:exon18:c.C2436T:p.F812F,ABCC11:NM_032583:exon19:c.C2436T:p.F812F,ABCC11:NM_145186:exon19:c.C2436T:p.F812F 0.14 0.27 0.13 0.045 0.16 0.033 0.1477 0.2460 0.0849 0.0266 0.1913 0.1770 0.19 0.0547 0.19 0.23 0.17 0.22 0.15 rs11866251 COSM3754904 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1448 0.2400 0.0950 0.1706 0.0280 0.1896 0.1774 0.1634 0.0555 0.1875 0.2415 0.0943 0.1788 0.0340 0.1840 0.1805 0.1629 het 1052.31 115 16 48227862 . G A 1052.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.887;DP=115;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7973;MQ=58.10;MQ0=0;MQRankSum=0.831;QD=9.15;ReadPosRankSum=-1.316;VQSLOD=5.2434;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,46:115:99:1082,0,1731 16 48248918 48248918 T C exonic ABCC11 synonymous SNV ABCC11:NM_033151:exon8:c.A1122G:p.K374K,ABCC11:NM_032583:exon9:c.A1122G:p.K374K,ABCC11:NM_145186:exon9:c.A1122G:p.K374K 0.17 0.36 0.15 0.045 0.17 0.059 0.1529 0.3337 0.0908 0.0274 0.1767 0.1658 0.1921 0.0846 0.21 0.32 0.16 0.27 0.098 rs8047091 COSM3754905 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1495 0.3361 0.1055 0.2105 0.0283 0.1676 0.1633 0.1717 0.0862 0.2074 0.3330 0.1065 0.2152 0.0340 0.1705 0.1697 0.1714 het 981.61 85 16 48248918 . T C 981.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.185;DP=85;Dels=0.00;FS=0.818;HRun=0;HaplotypeScore=0.8321;MQ=59.73;MQ0=0;MQRankSum=-0.057;QD=11.55;ReadPosRankSum=-2.223;VQSLOD=5.8957;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:1012,0,1190 16 48250026 48250026 G T exonic ABCC11 nonsynonymous SNV ABCC11:NM_033151:exon6:c.C950A:p.A317E,ABCC11:NM_032583:exon7:c.C950A:p.A317E,ABCC11:NM_145186:exon7:c.C950A:p.A317E 0.13 0.3 0.089 0.045 0.1 0.044 0.0989 0.2730 0.0470 0.0272 0.1208 0.0960 0.1162 0.0661 0.14 0.25 0.088 0.16 0.066 rs11863236 COSM3754906 1(large_intestine) . . . . . . . . . . . 0.644 0.052 T 0.0 0.026 B 0.0 0.013 B 0.001 0.394 N 1.000 0.090 P -1.95 0.002 N -3.08 0.926 D 2.18 0.003 N 0.081 0.202 -1.018 0.243 T 0.000 0.000 T . . . 0.719 0.163 8.950 0.585 0.059 0.004 0.019 N c -1.013 -0.845 0.848 0.250 0.487 0.133 0 2.31 0.277 1.407 0.340 0.044 0.157 0.999 0.424 0.638 0.296 5.846 0.178 ABC transporter type 1\x2c transmembrane domain ENSG00000121270.11|ENSG00000261538.1 Liver|Liver 0.0945 0.2752 0.0576 0.1013 0.0282 0.1142 0.0944 0.0953 0.0665 0.1511 0.2743 0.0598 0.0795 0.0339 0.1191 0.1080 0.1245 het 2645.95 250 16 48250026 . G T 2645.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.084;DP=250;DS;Dels=0.00;FS=2.989;HRun=0;HaplotypeScore=2.7652;MQ=58.49;MQ0=0;MQRankSum=2.383;QD=10.58;ReadPosRankSum=-0.567;VQSLOD=5.2117;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:145,105:250:99:2676,0,3665 16 48256602 48256602 T C exonic ABCC11 synonymous SNV ABCC11:NM_033151:exon5:c.A684G:p.Q228Q,ABCC11:NM_032583:exon6:c.A684G:p.Q228Q,ABCC11:NM_145186:exon6:c.A684G:p.Q228Q 0.13 0.31 0.098 0.044 0.1 0.044 0.1002 0.2866 0.0490 0.0272 0.1208 0.0957 0.1167 0.0658 0.15 0.26 0.088 0.18 0.066 rs16945974 COSM3754907 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0960 0.2903 0.0593 0.1021 0.0282 0.1144 0.0947 0.0966 0.0669 0.1550 0.2885 0.0632 0.0795 0.0340 0.1197 0.1075 0.1253 het 2342.91 151 16 48256602 . T C 2342.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.159;DP=151;Dels=0.00;FS=1.284;HRun=0;HaplotypeScore=3.6555;MQ=59.71;MQ0=0;MQRankSum=-1.476;QD=15.52;ReadPosRankSum=1.208;VQSLOD=5.2396;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,79:151:99:2373,0,1714 16 48265777 48265777 C T exonic ABCC11 nonsynonymous SNV ABCC11:NM_033151:exon1:c.G56A:p.R19H,ABCC11:NM_032583:exon2:c.G56A:p.R19H,ABCC11:NM_145186:exon2:c.G56A:p.R19H 0.11 0.25 0.089 0.019 0.1 0.044 0.0934 0.2310 0.0459 0.0127 0.1210 0.0944 0.1167 0.0658 0.13 0.21 0.086 0.17 0.066 rs16945988 COSM3754908 1(large_intestine) . . . . . . . . . . . 0.009 0.574 D 0.825 0.439 P 0.121 0.307 B 0.002 0.381 N 1.000 0.198 P 0 0.065 N -2.89 0.916 D -0.76 0.212 N 0.075 0.223 -1.031 0.202 T 0.000 0.001 T . . . 3.491 0.477 23.1 0.981 0.379 0.065 0.124 N c -0.435 -0.357 0.986 0.310 0.556 0.300 0 4.11 0.472 2.230 0.424 0.100 0.199 0.952 0.329 0.726 0.315 9.210 0.363 . ENSG00000121270.11|ENSG00000121270.11|ENSG00000261538.1 Cells_Transformed_fibroblasts|Liver|Liver 0.0903 0.2343 0.0556 0.1017 0.0135 0.1142 0.0933 0.0935 0.0668 0.1398 0.2388 0.0609 0.0795 0.0142 0.1193 0.1073 0.1232 het 2727.35 250 16 48265777 . C T 2727.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.527;DP=250;DS;Dels=0.00;FS=1.003;HRun=0;HaplotypeScore=1.8646;MQ=59.46;MQ0=0;MQRankSum=0.297;QD=10.91;ReadPosRankSum=-0.469;VQSLOD=6.8387;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:144,106:250:99:2757,0,3814 16 50106594 50106594 T C exonic HEATR3 synonymous SNV HEATR3:NM_182922:exon5:c.T591C:p.F197F,HEATR3:NM_001329729:exon6:c.T240C:p.F80F,HEATR3:NM_001329730:exon6:c.T240C:p.F80F 0.6 0.33 0.72 0.64 0.71 0.72 0.6872 0.3723 0.7405 0.6348 0.7633 0.7199 0.6982 0.7122 0.6 0.39 0.71 0.54 0.63 rs2287197 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6946 0.3694 0.7419 0.6549 0.6417 0.7646 0.7166 0.6927 0.7166 0.6323 0.3749 0.7041 0.6854 0.6324 0.7736 0.7369 0.7367 het 1177.49 115 16 50106594 . T C 1177.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.123;DP=115;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.9184;MQ=59.09;MQ0=0;MQRankSum=0.505;QD=10.24;ReadPosRankSum=-1.791;VQSLOD=5.9935;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,50:115:99:1207,0,1572 16 50326661 50326661 A G exonic ADCY7 synonymous SNV ADCY7:NM_001114:exon4:c.A612G:p.A204A,ADCY7:NM_001286057:exon5:c.A612G:p.A204A 0.99 0.98 1. 1. 1. 1. 0.9982 0.9821 0.9990 1 0.9998 0.9997 1 1 0.99 0.98 1. 0.92 0.98 rs8051594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9799 0.9985 0.9988 0.9999 1.0000 0.9997 0.9996 1 0.9943 0.9807 0.9976 0.9934 1 1 0.9997 1 hom 4335.71 141 16 50326661 . A G 4335.71 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8308;MQ=59.24;MQ0=0;QD=30.75;VQSLOD=8.6892;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4335,367,0 16 50709723 50709723 G A exonic SNX20 synonymous SNV SNX20:NM_001144972:exon3:c.C240T:p.I80I,SNX20:NM_153337:exon3:c.C240T:p.I80I,SNX20:NM_182854:exon3:c.C240T:p.I80I 0.051 0.014 0.092 . 0.16 0.014 0.1002 0.0278 0.0681 0.0016 0.0614 0.1518 0.0991 0.0271 0.12 0.033 0.17 0.076 0.21 rs6596 COSM3754917;COSM3754918;COSM3754919 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1058 0.0256 0.0775 0.1460 0.0002 0.0606 0.1677 0.1175 0.0289 0.0981 0.0289 0.1065 0.1689 0.0012 0.0615 0.1548 0.1069 het 2357.81 187 16 50709723 . G A 2357.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.683;DP=187;Dels=0.00;FS=0.545;HRun=1;HaplotypeScore=6.6104;MQ=59.55;MQ0=0;MQRankSum=-2.046;QD=12.61;ReadPosRankSum=-0.704;VQSLOD=3.3060;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,90:187:99:2388,0,2416 16 50744624 50744624 C T exonic NOD2 nonsynonymous SNV NOD2:NM_001293557:exon3:c.C721T:p.P241S,NOD2:NM_022162:exon4:c.C802T:p.P268S 0.1 0.027 0.17 0.0079 0.25 0.11 0.1844 0.0528 0.1114 0.0079 0.1685 0.2515 0.2056 0.1458 0.2 0.058 0.27 0.098 0.34 rs2066842 COSM3722792 5(soft_tissue);1(upper_aerodigestive_tract) Benign|Benign|Benign Blau_syndrome|Crohn_disease|not_specified RCV000278144.1|RCV000388922.1|RCV000455970.1 MedGen:OMIM:Orphanet|MedGen:SNOMED_CT|MedGen C1861303:186580:ORPHA90340|CN043071:34000006|CN169374 . . . . . . 0.45 0.090 T 0.004 0.185 B 0.002 0.139 B 0.217 0.034 N 1 0.090 P 1.61 0.413 L -0.33 0.683 T -0.61 0.181 N 0.045 0.025 -1.098 0.044 T 0.000 0.000 T . . . -2.909 0.001 0.001 0.323 0.019 0.096 0.152 N c -1.613 -1.725 1.000 0.747 0.707 0.730 0 -8.34 0.009 -1.729 0.019 -1.148 0.017 0.000 0.063 0.000 0.016 7.107 0.244 . ENSG00000167207.7|ENSG00000083799.13 Esophagus_Mucosa|Esophagus_Mucosa 0.1889 0.0488 0.1224 0.2379 0.0058 0.1609 0.2691 0.2141 0.1438 0.1667 0.0519 0.1615 0.2483 0.0068 0.1612 0.2500 0.1800 hom 1190.65 38 16 50744624 . C T 1190.65 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=31.33;VQSLOD=9.3754;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1224,105,0 16 50745199 50745199 C T exonic NOD2 synonymous SNV NOD2:NM_001293557:exon3:c.C1296T:p.R432R,NOD2:NM_022162:exon4:c.C1377T:p.R459R 0.11 0.048 0.17 0.0079 0.25 0.11 0.1864 0.0619 0.1125 0.0066 0.1645 0.2540 0.2060 0.1454 0.2 0.067 0.27 0.13 0.36 rs2066843 COSM3765913 1(bone);1(liver) Benign|Benign|Benign Blau_syndrome|Crohn_disease|not_specified RCV000344864.1|RCV000383063.1|RCV000454945.1 MedGen:OMIM:Orphanet|MedGen:SNOMED_CT|MedGen C1861303:186580:ORPHA90340|CN043071:34000006|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1906 0.0579 0.1235 0.2437 0.0055 0.1609 0.2707 0.2164 0.1440 0.1701 0.0610 0.1623 0.2467 0.0068 0.1618 0.2513 0.1848 hom 6384.40 203 16 50745199 . C T 6384.40 Mask AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7769;MQ=58.10;MQ0=0;QD=31.45;VQSLOD=8.0883;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6383,533,0 16 50745926 50745926 C T exonic NOD2 nonsynonymous SNV NOD2:NM_001293557:exon3:c.C2023T:p.R675W,NOD2:NM_022162:exon4:c.C2104T:p.R702W 0.014 0.0023 0.025 . 0.051 0.001 0.0227 0.0076 0.0177 0 0.0200 0.0349 0.0191 0.0004 0.032 0.0082 0.043 0.022 0.041 rs2066844 . . other|other|Likely benign|Likely benign|other INFLAMMATORY_BOWEL_DISEASE_1_(CROHN_DISEASE)\x2c_SUSCEPTIBILITY_TO|not_specified|Crohn_disease|Blau_syndrome|YAO_SYNDROME\x2c_SUSCEPTIBILITY_TO RCV000004957.4|RCV000203217.1|RCV000273268.1|RCV000365422.1|RCV000416493.1 . . . . . . . . 0.001 0.784 D 0.992 0.764 D 0.483 0.622 P 0.993 0.080 N 1.000 0.090 N 2.63 0.772 M -0.62 0.719 T -3.29 0.657 D 0.219 0.269 -0.855 0.516 T 0.138 0.455 T . . . 4.356 0.583 24.1 0.999 0.975 0.205 0.208 N c 0.115 -0.006 1.000 0.747 0.672 0.522 0 3.66 0.409 0.742 0.257 0.067 0.174 0.000 0.063 0.472 0.266 6.914 0.234 . . . 0.0259 0.0069 0.0203 0.0219 0 0.0187 0.0431 0.0253 0.0004 0.0236 0.0064 0.0286 0.0232 0 0.0160 0.0373 0.0275 het 941.54 68 16 50745926 . C T 941.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.513;DP=68;Dels=0.00;FS=0.924;HRun=0;HaplotypeScore=2.8627;MQ=59.73;MQ0=0;MQRankSum=-0.190;QD=13.85;ReadPosRankSum=-0.313;VQSLOD=6.5100;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,32:68:99:972,0,940 16 51171175 51171175 C T exonic SALL1 nonsynonymous SNV SALL1:NM_001127892:exon3:c.G3532A:p.V1178I,SALL1:NM_002968:exon3:c.G3823A:p.V1275I 0.99 0.95 1. 1. 1. 1. 0.9965 0.9627 0.9975 1 1 0.9999 1 0.9998 0.99 0.97 1. 0.95 1. rs4614723 . . Benign|Benign not_specified|Townes_syndrome RCV000242039.1|RCV000349793.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265246:107480:24750000 . . . . . . 0.902 0.028 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1 0.588 P -0.95 0.013 N 1.19 0.376 T 0.41 0.038 N 0.022 0.023 -0.990 0.325 T 0.000 0.000 T . . . 0.844 0.174 9.735 0.884 0.173 0.351 0.250 N c -0.748 -0.499 0.998 0.367 0.672 0.522 0 3.5 0.390 0.725 0.255 0.147 0.235 1.000 0.715 0.999 0.750 8.608 0.328 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9971 0.9610 0.9974 0.9999 1 1 0.9999 0.9984 0.9998 0.9904 0.9666 1 1 1 1 0.9997 0.9990 hom 4419.02 139 16 51171175 . C T 4419.02 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.14;MQ0=0;QD=31.79;VQSLOD=8.9069;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4418,361,0 16 51172677 51172677 G A exonic SALL1 synonymous SNV SALL1:NM_001127892:exon2:c.C3165T:p.H1055H,SALL1:NM_002968:exon2:c.C3456T:p.H1152H 0.14 0.19 0.15 0.025 0.22 0.11 0.1828 0.1732 0.1209 0.0317 0.2603 0.2167 0.1971 0.1424 0.2 0.16 0.22 0.14 0.19 rs11645288 . . Benign|Benign not_specified|Townes_syndrome RCV000242543.1|RCV000309110.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265246:107480:24750000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1840 0.1815 0.1305 0.2699 0.0329 0.2582 0.2112 0.2099 0.1437 0.2018 0.1815 0.1659 0.2583 0.0388 0.2536 0.2191 0.2169 het 1443.69 87 16 51172677 . G A 1443.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.670;DP=87;Dels=0.00;FS=4.159;HRun=0;HaplotypeScore=3.7107;MQ=59.57;MQ0=0;MQRankSum=-1.554;QD=16.59;ReadPosRankSum=0.143;VQSLOD=4.7402;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,52:87:99:1474,0,884 16 51173559 51173559 G A exonic SALL1 synonymous SNV SALL1:NM_001127892:exon2:c.C2283T:p.L761L,SALL1:NM_002968:exon2:c.C2574T:p.L858L 0.54 0.1 0.63 0.72 0.62 0.79 0.6204 0.1780 0.6625 0.7091 0.6298 0.6406 0.6421 0.7366 0.49 0.2 0.64 0.47 0.66 rs1965024 COSM1128938 1(haematopoietic_and_lymphoid_tissue);1(prostate) Benign|Benign not_specified|Townes_syndrome RCV000242992.2|RCV000391169.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265246:107480:24750000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6268 0.1682 0.6547 0.5203 0.7076 0.6318 0.6489 0.6129 0.7317 0.5139 0.1846 0.5979 0.5364 0.6935 0.6334 0.6467 0.6107 hom 5918.92 180 16 51173559 . G A 5918.92 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5717;MQ=59.46;MQ0=0;QD=32.88;VQSLOD=8.3034;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5918,463,0 16 52497872 52497872 C T exonic TOX3 nonsynonymous SNV TOX3:NM_001080430:exon3:c.G382A:p.V128M,TOX3:NM_001146188:exon4:c.G367A:p.V123M 0.061 0.2 0.026 . 0.007 0.02 0.0254 0.1929 0.0117 0 0.0005 0.0093 0.0149 0.0221 0.067 0.19 0.0097 0.12 . rs16951186 . . . . . . . . . . . . . 0.222 0.188 T 0.046 0.246 B 0.004 0.093 B 0.001 0.394 N 0.862 0.283 P 1.15 0.294 L 0.94 0.437 T -0.17 0.102 N 0.082 0.283 -1.088 0.058 T 0.000 0.000 T . . . 1.970 0.298 16.02 0.922 0.210 0.285 0.233 N c -0.532 -0.398 0.999 0.375 0.707 0.730 0 4.96 0.650 0.695 0.250 -0.325 0.076 0.114 0.229 0.979 0.486 15.362 0.741 . . . 0.0212 0.1983 0.0123 0.0040 0.0001 0.0007 0.0094 0.0155 0.0154 0.0607 0.1974 0.0215 0.0033 0 0.0011 0.0087 0.0061 het 2986.72 246 16 52497872 . C T 2986.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.692;DP=246;DS;Dels=0.00;FS=2.167;HRun=0;HaplotypeScore=2.7865;MQ=58.53;MQ0=0;MQRankSum=0.656;QD=12.14;ReadPosRankSum=-0.138;VQSLOD=6.2044;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,121:246:99:3017,0,3167 16 53283966 53283966 G A exonic CHD9 synonymous SNV CHD9:NM_001308319:exon16:c.G3849A:p.Q1283Q,CHD9:NM_025134:exon17:c.G3849A:p.Q1283Q 0.3 0.37 0.19 0.25 0.3 0.37 0.3044 0.3498 0.1451 0.2642 0.2902 0.3190 0.3129 0.3569 0.32 0.33 0.31 0.33 . rs8052283 COSM3754930 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2972 0.3457 0.1549 0.3805 0.2713 0.2890 0.3154 0.3155 0.3536 0.3139 0.3394 0.1854 0.3344 0.2867 0.2779 0.3180 0.3014 het 702.87 62 16 53283966 . G A 702.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.472;DP=62;Dels=0.00;FS=1.090;HRun=2;HaplotypeScore=3.7853;MQ=59.28;MQ0=0;MQRankSum=1.106;QD=11.34;ReadPosRankSum=1.120;VQSLOD=6.1331;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,30:62:99:733,0,866 16 53341748 53341748 T G exonic CHD9 nonsynonymous SNV CHD9:NM_001308319:exon32:c.T6936G:p.D2312E,CHD9:NM_025134:exon33:c.T6936G:p.D2312E 0.83 0.93 0.81 0.78 0.79 0.77 0.7961 0.9073 0.8144 0.8085 0.7408 0.7866 0.8047 0.7715 0.83 0.91 0.79 0.84 . rs6499548 . . . . . . . . . . . . . 1.0 0.010 T 0.006 0.258 B 0.006 0.279 B 0.000 0.629 N 1.000 0.200 P -1.175 0.009 N -1.87 0.851 D 0.79 0.019 N 0.019 0.056 -0.939 0.427 T 0.000 0.000 T . . . 0.011 0.095 2.694 0.223 0.009 0.225 0.216 N c -0.924 -0.660 0.492 0.209 0.707 0.730 0 4.73 0.593 1.370 0.336 -0.234 0.093 1.000 0.715 0.038 0.155 7.839 0.284 . . . 0.7975 0.9098 0.8104 0.8661 0.8128 0.7475 0.7870 0.7894 0.7729 0.8206 0.9098 0.7697 0.8543 0.8017 0.7427 0.7923 0.8020 hom 1369.59 41 16 53341748 . T G 1369.59 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=33.40;VQSLOD=10.0176;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1403,108,0 16 53341803 53341803 A G exonic CHD9 nonsynonymous SNV CHD9:NM_001308319:exon32:c.A6991G:p.T2331A,CHD9:NM_025134:exon33:c.A6991G:p.T2331A 0.015 0.0023 0.022 . 0.049 0.0092 0.0296 0.0050 0.0208 0 0.0244 0.0432 0.0406 0.0105 0.03 0.0031 0.043 0.022 . rs61747411 . . . . . . . . . . . . . 0.676 0.160 T 0.017 0.251 B 0.003 0.233 B 0.485 0.050 N 1.000 0.192 N 0.895 0.225 L -1.91 0.854 D 0.13 0.065 N 0.015 0.007 -0.930 0.441 T 0.069 0.284 T . . . 0.173 0.110 4.387 0.758 0.108 0.224 0.215 N c -1.273 -1.274 1.000 0.443 0.719 0.830 0 -10.3 0.003 0.090 0.147 -0.119 0.114 0.012 0.185 0.998 0.697 4.878 0.129 . . . 0.0292 0.0050 0.0223 0.0865 0.0002 0.0232 0.0402 0.0368 0.0095 0.0242 0.0069 0.0191 0.1026 0 0.0203 0.0360 0.0326 het 668.77 47 16 53341803 . A G 668.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.927;DP=47;Dels=0.00;FS=1.271;HRun=0;HaplotypeScore=1.9416;MQ=58.71;MQ0=0;MQRankSum=-0.246;QD=14.23;ReadPosRankSum=0.118;VQSLOD=6.0195;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,26:47:99:699,0,493 16 53358439 53358439 A G exonic CHD9 nonsynonymous SNV CHD9:NM_001308319:exon38:c.A8326G:p.T2776A,CHD9:NM_025134:exon39:c.A8278G:p.T2760A 0.21 0.13 0.16 0.23 0.27 0.27 0.2578 0.1528 0.1214 0.2472 0.2693 0.2923 0.2606 0.2760 0.24 0.15 0.28 0.21 . rs3743771 COSM435387 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.517 0.073 T 0.001 0.112 B 0.003 0.133 B 0.001 0.399 N 0.007 0.420 P 1.59 0.404 L -2.0 0.860 D -0.97 0.258 N 0.12 0.228 -1.097 0.045 T 0.000 0.000 T . . . 0.180 0.111 4.471 0.558 0.053 0.871 0.463 D c -0.532 -0.372 0.323 0.194 0.707 0.730 0 3.22 0.359 2.892 0.481 1.073 0.849 1.000 0.715 0.223 0.222 9.856 0.401 . ENSG00000261291.1 Cells_Transformed_fibroblasts 0.2555 0.1486 0.1304 0.3599 0.256 0.2686 0.2891 0.2794 0.2765 0.2404 0.1441 0.1519 0.3212 0.2708 0.2585 0.2904 0.2700 het 537.41 47 16 53358439 . A G 537.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.798;DP=47;Dels=0.00;FS=2.621;HRun=0;HaplotypeScore=0.7340;MQ=58.67;MQ0=0;MQRankSum=2.224;QD=11.43;ReadPosRankSum=0.245;VQSLOD=5.6921;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,24:47:99:567,0,605 16 54318172 54318172 C A exonic IRX3 nonsynonymous SNV IRX3:NM_024336:exon3:c.G1437T:p.Q479H 0.15 0.17 0.19 0.017 0.25 0.15 0.2021 0.1897 0.1691 0.0191 0.2218 0.2370 0.2287 0.1792 0.23 0.19 0.24 0.16 0.21 rs1126960 COSM5002030 1(pancreas) . . . . . . . . . . . 0.218 0.191 T 0.053 0.211 B 0.016 0.166 B 0.268 0.152 N 0.768 0.294 P -0.55 0.024 N 0.58 0.542 T -2.68 0.572 D 0.149 0.176 -1.077 0.080 T 0.000 0.000 T . . . 3.356 0.462 22.9 0.990 0.488 0.765 0.373 D c -0.233 -0.079 1.000 0.747 0.598 0.340 0 4.1 0.470 0.409 0.207 0.931 0.441 0.998 0.411 0.999 0.750 7.686 0.275 . . . 0.2007 0.1925 0.1653 0.2867 0.0175 0.2196 0.2355 0.2214 0.1745 0.2033 0.1872 0.1909 0.2980 0.0235 0.2199 0.2271 0.2031 het 432.78 57 16 54318172 . C A 432.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.532;DP=57;Dels=0.00;FS=1.067;HRun=0;HaplotypeScore=0.9832;MQ=58.79;MQ0=0;MQRankSum=0.566;QD=7.59;ReadPosRankSum=1.303;VQSLOD=5.4099;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,22:57:99:463,0,879 16 54967096 54967096 C A exonic IRX5 nonsynonymous SNV IRX5:NM_001252197:exon3:c.C760A:p.P254T,IRX5:NM_005853:exon3:c.C763A:p.P255T 0.36 0.24 0.35 0.54 0.32 0.41 0.4554 0.3496 0.5257 0.6463 0.4185 0.4486 0.4579 0.4250 0.27 0.22 0.3 0.26 0.049 rs13336114 COSM3749368 1(thyroid);3(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.459 0.087 T 0.0 0.026 B 0.0 0.013 B 0.331 0.041 N 1 0.189 P 0.695 0.181 N 0.29 0.589 T -0.19 0.129 N 0.06 0.044 -0.935 0.434 T 0.000 0.000 T . . . -1.461 0.018 0.003 0.856 0.155 0.211 0.211 N c -1.183 -1.148 1.000 0.473 0.598 0.340 0 -0.895 0.100 0.742 0.257 0.033 0.151 0.275 0.249 0.937 0.410 0.496 0.005 . . . 0.3849 0.2653 0.3968 0.4343 0.6045 0.2967 0.3452 0.3843 0.4079 0.3178 0.2382 0.3885 0.4396 0.6358 0.2876 0.3285 0.3420 het 206.56 10 16 54967096 . C A 206.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.480;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.898;QD=20.66;ReadPosRankSum=-0.480;VQSLOD=11.7500;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:2,8:10:41.75:237,0,42 16 55523705 55523705 T C exonic MMP2 synonymous SNV MMP2:NM_001127891:exon7:c.T999C:p.D333D,MMP2:NM_001302508:exon7:c.T921C:p.D307D,MMP2:NM_001302509:exon7:c.T921C:p.D307D,MMP2:NM_001302510:exon7:c.T921C:p.D307D,MMP2:NM_004530:exon7:c.T1149C:p.D383D 0.8 0.7 0.8 0.8 0.84 0.89 0.8378 0.7121 0.8260 0.7892 0.8709 0.8481 0.8282 0.8965 0.8 0.71 0.85 0.7 0.75 rs243849 COSM4129119 1(thyroid) Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders RCV000280132.1 MedGen CN239151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8376 0.7106 0.8246 0.8203 0.7858 0.8684 0.8482 0.8155 0.8927 0.8073 0.7081 0.7955 0.8278 0.7652 0.8688 0.8527 0.8476 het 1188.44 103 16 55523705 . T C 1188.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.421;DP=103;Dels=0.00;FS=2.068;HRun=0;HaplotypeScore=4.3856;MQ=58.61;MQ0=0;MQRankSum=-0.288;QD=11.54;ReadPosRankSum=1.031;VQSLOD=5.4881;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1218,0,1423 16 55536727 55536727 C T exonic MMP2 synonymous SNV MMP2:NM_001127891:exon12:c.C1656T:p.F552F,MMP2:NM_001302508:exon12:c.C1578T:p.F526F,MMP2:NM_001302509:exon12:c.C1578T:p.F526F,MMP2:NM_001302510:exon12:c.C1578T:p.F526F,MMP2:NM_004530:exon12:c.C1806T:p.F602F 0.3 0.15 0.48 0.25 0.45 0.29 0.3950 0.1944 0.4149 0.2436 0.3940 0.4529 0.4031 0.3529 0.37 0.21 0.45 0.21 0.48 rs14070 COSM4415181 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Multicentric_Osteolysis-Nodulosis-Arthropathy_(MONA)_Spectrum_Disorders RCV000331102.1 MedGen CN239151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3985 0.1901 0.4192 0.3941 0.2433 0.3948 0.4568 0.4104 0.3569 0.3634 0.1865 0.4499 0.4503 0.2472 0.3998 0.4603 0.4174 het 1085.62 98 16 55536727 . C T 1085.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.223;DP=98;Dels=0.00;FS=0.768;HRun=2;HaplotypeScore=6.5038;MQ=59.19;MQ0=0;MQRankSum=0.076;QD=11.08;ReadPosRankSum=1.508;VQSLOD=4.4037;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,46:98:99:1116,0,1379 16 55562466 55562466 G A exonic LPCAT2 nonsynonymous SNV LPCAT2:NM_017839:exon3:c.G489A:p.M163I 0.52 0.34 0.62 0.43 0.65 0.65 0.6190 0.3782 0.6075 0.4442 0.6107 0.6631 0.6311 0.6946 0.56 0.38 0.65 0.45 0.7 rs837550 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.077 0.211 N 1.000 0.090 P -2.08 0.002 N -3.13 0.928 D 1.26 0.010 N 0.183 0.223 -1.001 0.296 T 0.000 0.000 T . . . -1.495 0.017 0.003 0.507 0.044 0.038 0.091 N c -1.612 -1.547 0.966 0.288 0.722 0.854 0 -3.8 0.040 -1.083 0.035 -0.812 0.031 0.003 0.159 0.816 0.342 7.519 0.266 Phospholipid/glycerol acyltransferase ENSG00000087253.7|ENSG00000087253.7|ENSG00000087253.7 Adipose_Subcutaneous|Artery_Aorta|Brain_Cortex 0.6206 0.3749 0.6098 0.7126 0.4421 0.6130 0.6583 0.6270 0.6933 0.5640 0.3686 0.6187 0.7616 0.4320 0.6135 0.6689 0.6291 het 2285.94 169 16 55562466 . G A 2285.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.847;DP=169;Dels=0.00;FS=1.258;HRun=0;HaplotypeScore=8.7850;MQ=59.52;MQ0=0;MQRankSum=0.040;QD=13.53;ReadPosRankSum=-1.471;VQSLOD=4.2586;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,92:169:99:2316,0,1811 16 55601388 55601388 A G exonic CAPNS2 synonymous SNV CAPNS2:NM_032330:exon1:c.A720G:p.E240E 0.42 0.38 0.35 0.41 0.46 0.51 0.4474 0.4117 0.3926 0.4072 0.4884 0.4565 0.4449 0.4745 0.44 0.4 0.46 0.52 . rs1502003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4453 0.4083 0.3985 0.3890 0.3995 0.4876 0.4614 0.4457 0.4692 0.4443 0.4225 0.3684 0.3709 0.4091 0.4940 0.4537 0.4622 het 2408.39 219 16 55601388 . A G 2408.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.095;DP=219;DS;Dels=0.00;FS=7.210;HRun=0;HaplotypeScore=1.9152;MQ=58.54;MQ0=0;MQRankSum=-0.571;QD=11.00;ReadPosRankSum=-0.612;VQSLOD=4.8495;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,95:219:99:2438,0,3464 16 55883618 55883618 T C exonic CES5A synonymous SNV CES5A:NM_001143685:exon11:c.A1341G:p.P447P,CES5A:NM_001190158:exon12:c.A1428G:p.P476P 0.69 0.6 0.78 0.78 0.75 0.6 0.7193 0.6352 0.8275 0.7788 0.7483 0.7305 0.6811 0.6077 0.7 0.63 0.73 0.63 . rs2160276 COSM3754938 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7255 0.6367 0.8218 0.7633 0.7825 0.7415 0.7260 0.7185 0.6086 0.7101 0.6441 0.7950 0.7848 0.7981 0.7350 0.7260 0.7239 het 2610.48 239 16 55883618 . T C 2610.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.092;DP=239;DS;Dels=0.00;FS=1.130;HRun=1;HaplotypeScore=1.9722;MQ=59.57;MQ0=0;MQRankSum=-1.445;QD=10.92;ReadPosRankSum=-1.843;VQSLOD=5.4921;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:132,107:239:99:2640,0,3799 16 55897289 55897289 C T exonic CES5A nonsynonymous SNV CES5A:NM_001143685:exon6:c.G781A:p.E261K,CES5A:NM_145024:exon6:c.G781A:p.E261K,CES5A:NM_001190158:exon7:c.G868A:p.E290K 0.12 0.1 0.18 0.23 0.045 0.082 0.0931 0.1062 0.2501 0.2555 0.0617 0.0470 0.0804 0.0898 0.064 0.099 0.047 0.065 0.016 rs11076126 COSM5461341;COSM5461340 1(large_intestine) . . . . . . . . . . . 0.93 0.046 T 0.0 0.026 B 0.0 0.013 B 0.083 0.024 N 1 0.090 P -0.53 0.025 N -0.2 0.661 T 0.96 0.018 N 0.059 0.074 -1.071 0.093 T 0.000 0.000 T . . . 0.432 0.136 6.892 0.836 0.143 0.004 0.021 N c -0.991 -0.883 0.000 0.042 0.487 0.133 0 3.64 0.407 1.283 0.326 -0.254 0.089 0.237 0.245 0.005 0.090 4.197 0.098 Alpha/Beta hydrolase fold|Carboxylesterase\x2c type B . . 0.1002 0.1021 0.2325 0.1318 0.2562 0.0623 0.0433 0.0968 0.0915 0.0803 0.1045 0.1906 0.1556 0.2562 0.0655 0.0435 0.0726 het 2408.78 230 16 55897289 . C T 2408.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.159;DP=230;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1123;MQ=58.94;MQ0=0;MQRankSum=1.416;QD=10.47;ReadPosRankSum=-0.160;VQSLOD=3.9810;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:130,100:230:99:2439,0,3374 16 55905636 55905636 A G exonic CES5A synonymous SNV CES5A:NM_001143685:exon3:c.T318C:p.H106H,CES5A:NM_145024:exon3:c.T318C:p.H106H,CES5A:NM_001190158:exon4:c.T405C:p.H135H 0.99 0.97 1. 1. 1. 1. 0.9972 0.9696 0.9982 1 1 1.0000 0.9978 0.9999 0.99 0.97 1. 1. 1. rs3859108 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9977 0.9669 0.9986 1 1 1 0.9999 0.9987 0.9998 0.9908 0.9682 0.9976 1 1 1 0.9999 0.9959 hom 1862.94 66 16 55905636 . A G 1862.94 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6120;MQ=59.34;MQ0=0;QD=28.23;VQSLOD=7.5915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1896,144,0 16 56368689 56368689 C T exonic GNAO1 synonymous SNV GNAO1:NM_020988:exon5:c.C513T:p.T171T,GNAO1:NM_138736:exon5:c.C513T:p.T171T 0.5 0.42 0.54 0.76 0.4 0.4 0.4384 0.4058 0.5171 0.7567 0.4856 0.4012 0.4669 0.3666 0.4 0.41 0.39 0.49 0.25 rs1065375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4430 0.4072 0.5160 0.4140 0.7588 0.4830 0.3941 0.4391 0.3626 0.4279 0.4067 0.5467 0.3444 0.7450 0.4785 0.3890 0.4297 het 1462.01 101 16 56368689 . C T 1462.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.454;DP=101;Dels=0.00;FS=2.644;HRun=0;HaplotypeScore=1.9598;MQ=59.21;MQ0=0;MQRankSum=0.079;QD=14.48;ReadPosRankSum=0.645;VQSLOD=6.6326;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,53:101:99:1492,0,1212 16 56377748 56377748 A G exonic GNAO1 synonymous SNV GNAO1:NM_138736:exon8:c.A951G:p.K317K 0.41 0.63 0.24 0.22 0.33 0.51 0.3568 0.5787 0.2501 0.2029 0.2667 0.3411 0.3400 0.4720 0.42 0.57 0.35 0.41 0.43 rs1799917 COSM3754939 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3445 0.5781 0.2485 0.2959 0.1973 0.2726 0.3508 0.327 0.4628 0.4812 0.6230 0.2905 0.3636 0.3744 0.3049 0.4657 0.3990 hom 2399.61 76 16 56377748 . A G 2399.61 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4481;MQ=58.12;MQ0=0;QD=31.57;VQSLOD=7.7928;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:76:99:2433,187,0 16 56500132 56500132 C T exonic OGFOD1 nonsynonymous SNV OGFOD1:NM_001324357:exon5:c.C514T:p.P172S,OGFOD1:NM_001324358:exon5:c.C352T:p.P118S,OGFOD1:NM_001324359:exon5:c.C226T:p.P76S,OGFOD1:NM_001324360:exon5:c.C226T:p.P76S,OGFOD1:NM_001324361:exon5:c.C352T:p.P118S,OGFOD1:NM_001324362:exon5:c.C97T:p.P33S,OGFOD1:NM_001324363:exon5:c.C517T:p.P173S,OGFOD1:NM_018233:exon5:c.C517T:p.P173S 0.078 0.017 0.04 0.17 0.027 0.15 0.0607 0.0222 0.0540 0.1654 0.0448 0.0381 0.0607 0.1322 0.035 0.027 0.039 0.043 0.057 rs34883368 COSM4416862 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.345 0.125 T 0.001 0.067 B 0.024 0.190 B 0.019 0.272 N 0.022 0.394 P 1.09 0.274 L 0.43 0.568 T -0.6 0.193 N 0.058 0.350 -1.097 0.044 T 0.001 0.003 T . . . 0.592 0.151 8.103 0.838 0.144 0.402 0.261 N c -0.832 -0.806 0.031 0.140 0.707 0.730 0 -2.46 0.061 0.386 0.203 -1.252 0.015 0.265 0.248 0.980 0.490 6.680 0.222 Oxoglutarate/iron-dependent dioxygenase|Prolyl 4-hydroxylase\x2c alpha subunit;Prolyl 4-hydroxylase\x2c alpha subunit ENSG00000102891.3 Skin_Sun_Exposed_Lower_leg 0.0604 0.0235 0.0470 0.0179 0.1704 0.0451 0.0405 0.0540 0.1293 0.0459 0.0249 0.0453 0.0232 0.1759 0.0515 0.0425 0.0582 het 1240.07 106 16 56500132 . C T 1240.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.168;DP=106;Dels=0.00;FS=1.608;HRun=1;HaplotypeScore=3.7776;MQ=58.97;MQ0=0;MQRankSum=0.358;QD=11.70;ReadPosRankSum=-0.879;VQSLOD=5.8696;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,49:106:99:1270,0,1530 16 56500176 56500176 T A exonic OGFOD1 synonymous SNV OGFOD1:NM_001324357:exon5:c.T558A:p.I186I,OGFOD1:NM_001324358:exon5:c.T396A:p.I132I,OGFOD1:NM_001324359:exon5:c.T270A:p.I90I,OGFOD1:NM_001324360:exon5:c.T270A:p.I90I,OGFOD1:NM_001324361:exon5:c.T396A:p.I132I,OGFOD1:NM_001324362:exon5:c.T141A:p.I47I,OGFOD1:NM_001324363:exon5:c.T561A:p.I187I,OGFOD1:NM_018233:exon5:c.T561A:p.I187I 0.06 0.017 0.04 0.14 0.027 0.085 0.0515 0.0212 0.0540 0.1328 0.0450 0.0382 0.0570 0.0823 0.035 0.027 0.039 0.022 0.057 rs11544885 COSM5426723 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0515 0.0227 0.0473 0.0179 0.1359 0.0450 0.0404 0.0488 0.0796 0.0436 0.0242 0.0453 0.0232 0.1386 0.0516 0.0426 0.0531 het 1117.09 78 16 56500176 . T A 1117.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.134;DP=78;Dels=0.00;FS=3.417;HRun=0;HaplotypeScore=3.6762;MQ=59.14;MQ0=0;MQRankSum=0.025;QD=14.32;ReadPosRankSum=-0.305;VQSLOD=5.6374;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,40:78:99:1147,0,1018 16 56533804 56533804 T G exonic BBS2 synonymous SNV BBS2:NM_031885:exon12:c.A1413C:p.V471V 0.0046 0.0015 0.0058 . 0.017 . 0.0126 0.0024 0.0105 0 0.0408 0.0160 0.0253 0.0016 0.012 0.0032 0.017 0.011 0.041 rs35294865 . . Benign|other not_specified|Bardet-Biedl_syndrome RCV000082284.5|RCV000205379.3 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0752166:209900:ORPHA110:5619004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0140 0.0025 0.0096 0.0086 0 0.0397 0.0175 0.0197 0.0018 0.0158 0.0026 0.0107 0.0132 0 0.0452 0.0182 0.0224 het 1984.83 149 16 56533804 . T G 1984.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.728;DP=149;Dels=0.00;FS=6.675;HRun=0;HaplotypeScore=4.8029;MQ=59.10;MQ0=0;MQRankSum=0.042;QD=13.32;ReadPosRankSum=-0.277;VQSLOD=4.2740;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,79:149:99:2015,0,1790 16 56545175 56545175 T C exonic BBS2 nonsynonymous SNV BBS2:NM_031885:exon3:c.A367G:p.I123V 0.26 0.25 0.28 0.41 0.18 0.21 0.2092 0.2292 0.3062 0.4101 0.1777 0.1703 0.2080 0.1939 0.2 0.23 0.18 0.22 0.23 rs11373 . . Benign|Benign not_specified|Bardet-Biedl_syndrome RCV000241605.1|RCV000261972.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0752166:209900:ORPHA110:5619004 . . . . . . 0.562 0.063 T 0.0 0.026 B 0.003 0.080 B 0.007 0.318 N 0.726 0.298 P 0.85 0.213 L -1.58 0.820 D -0.24 0.110 N 0.04 0.031 -1.014 0.256 T 0.000 0.000 T . . . -0.494 0.056 0.227 0.602 0.062 0.813 0.404 D c -0.808 -0.646 0.745 0.233 0.732 0.924 0 0.542 0.163 0.398 0.205 1.051 0.754 0.997 0.399 0.994 0.587 5.865 0.179 Ciliary BBSome complex subunit 2\x2c N-terminal ENSG00000087263.12|ENSG00000087263.12|ENSG00000087263.12 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial 0.2137 0.2311 0.2966 0.2141 0.4044 0.1748 0.1714 0.1994 0.1918 0.2137 0.2276 0.2859 0.2267 0.3990 0.1829 0.1883 0.2163 het 1829.09 133 16 56545175 . T C 1829.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.830;DP=133;Dels=0.00;FS=4.159;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=1.511;QD=13.75;ReadPosRankSum=2.718;VQSLOD=4.7795;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,69:133:99:1859,0,1526 16 56548501 56548501 C T exonic BBS2 nonsynonymous SNV BBS2:NM_031885:exon2:c.G209A:p.S70N 1. 1. 1. 1. 0.99 0.99 0.9938 0.9982 0.9953 0.9999 1 0.9923 0.9923 0.9902 0.99 1. 0.99 0.99 1. rs4784677 . . Pathogenic\x2cBenign Bardet-biedl_syndrome_2/6\x2c_digenic\x2cnot_specified RCV000004838.3\x2cRCV000301991.1 MedGen\x2cMedGen C4016908\x2cCN169374 . . . . . . 1.0 0.010 T . . . . . . 0.000 0.843 N 1.000 0.207 P . . . -1.16 0.781 T 2.81 0.002 N 0.048 0.203 -0.909 0.470 T 0.000 0.000 T . . . 1.358 0.227 12.57 0.309 0.017 0.165 0.192 N c -0.085 0.026 1.000 0.747 0.706 0.609 0 5.54 0.828 4.993 0.634 0.119 0.209 1.000 0.715 1.000 0.888 10.250 0.424 Ciliary BBSome complex subunit 2\x2c N-terminal|WD40-repeat-containing domain . . 0.9941 0.9985 0.9958 0.9950 0.9999 0.9998 0.9923 0.9920 0.9897 0.9964 0.9985 0.9964 0.9934 1 0.9994 0.9942 0.9969 hom 3271.07 107 16 56548501 . C T 3271.07 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.57;VQSLOD=13.6387;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3271,253,0 16 56601720 56601720 A G exonic MT4 nonsynonymous SNV MT4:NM_032935:exon2:c.A89G:p.Y30C 0.86 0.76 0.95 0.72 0.97 0.96 0.9351 0.7971 0.9496 0.7132 0.9572 0.9738 0.9289 0.9578 0.92 0.81 0.98 . 0.97 rs666636 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.209 P . . . 3.38 0.058 T 9.22 0.000 N 0.04 0.449 -0.938 0.430 T 0.000 0.000 T . . . 1.219 0.212 11.84 0.818 0.134 0.019 0.058 N c -0.464 -0.292 0.542 0.213 0.487 0.133 0 5.73 0.897 4.018 0.566 0.045 0.158 1.000 0.715 0.300 0.237 10.951 0.464 Metallothionein domain|Metallothionein domain\x2c vertebrate . . 0.9362 0.7919 0.9490 0.9500 0.7122 0.9577 0.9747 0.9494 0.9575 0.9095 0.8002 0.9555 0.9437 0.7049 0.9616 0.9765 0.9490 hom 6235.32 191 16 56601720 . A G 6235.32 Mask AC=2;AF=1.00;AN=2;DP=191;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.20;MQ0=0;QD=32.65;VQSLOD=9.6038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:6235,482,0 16 56601722 56601722 T C exonic MT4 nonsynonymous SNV MT4:NM_032935:exon2:c.T91C:p.W31R 0.87 0.79 0.95 0.72 0.97 0.96 0.9375 0.8249 0.9505 0.7129 0.9572 0.9739 0.93 0.9578 0.93 0.84 0.98 0.011 0.97 rs666647 . . . . . . . . . . . . . 0.847 0.028 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 1.000 0.090 P . . . 3.23 0.070 T 4.7 0.000 N 0.02 0.269 -0.951 0.409 T 0.000 0.000 T . . . 0.955 0.185 10.40 0.678 0.082 0.008 0.032 N c -0.681 -0.584 0.057 0.151 0.487 0.133 0 4.72 0.591 0.436 0.211 -0.009 0.132 0.917 0.316 0.313 0.239 6.802 0.228 Metallothionein domain|Metallothionein domain\x2c vertebrate . . 0.9382 0.8216 0.9499 0.9500 0.7122 0.9577 0.9747 0.9505 0.9575 0.9183 0.8313 0.9567 0.9437 0.7040 0.9616 0.9766 0.95 hom 5571.13 188 16 56601722 . T C 5571.13 Mask AC=2;AF=1.00;AN=2;DP=188;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.19;MQ0=0;QD=29.63;VQSLOD=9.1747;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,188:188:99:5570,463,0 16 56667282 56667282 C A exonic MT1M nonsynonymous SNV MT1M:NM_176870:exon2:c.C59A:p.T20K 0.71 0.55 0.79 0.67 0.83 0.8 0.8069 0.5909 0.7827 0.6699 0.8568 0.8544 0.8315 0.8168 0.77 0.6 0.85 0.66 0.8 rs1827210 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.018 0.277 N 1 0.090 P . . . 3.23 0.070 T 3.95 0.001 N 0.036 0.162 -0.998 0.304 T 0.000 0.000 T . . . 0.289 0.122 5.582 0.766 0.111 0.015 0.050 N c -1.359 -1.419 0.933 0.271 0.677 0.550 0 -0.081 0.130 0.207 0.171 -0.509 0.051 0.027 0.200 0.099 0.189 4.092 0.094 Metallothionein domain|Metallothionein domain\x2c vertebrate|Metallothionein\x2c vertebrate\x2c metal binding site ENSG00000205362.6|ENSG00000205360.5|ENSG00000205362.6|ENSG00000205362.6|ENSG00000205362.6|ENSG00000205362.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Colon_Transverse|Nerve_Tibial|Pancreas|Thyroid 0.8093 0.5889 0.7840 0.8031 0.6642 0.8591 0.8568 0.8265 0.8182 0.7709 0.5903 0.7804 0.8113 0.6652 0.8615 0.8610 0.8296 hom 7090.72 225 16 56667282 . C A 7090.72 Mask AC=2;AF=1.00;AN=2;DP=225;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9932;MQ=54.46;MQ0=0;QD=31.51;VQSLOD=3.6319;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,225:225:99:7090,551,0 16 56673227 56673227 C A exonic MT1A nonsynonymous SNV MT1A:NM_005946:exon2:c.C80A:p.T27N 0.47 0.23 0.62 0.48 0.64 0.52 0.5961 0.2802 0.6293 0.4778 0.7094 0.6585 0.6313 0.5341 0.53 0.29 0.65 0.45 0.57 rs11640851 . . . . . . . . . . . . . 0.008 0.586 D 0.928 0.496 P 0.642 0.503 P 0.000 0.629 U 0.002 0.445 P . . . 2.91 0.100 T -4.2 0.757 D 0.11 0.118 -1.017 0.246 T 0.000 0.000 T . . . 2.330 0.341 18.37 0.877 0.169 0.866 0.456 D c -0.221 -0.340 0.975 0.295 0.624 0.395 0 1.96 0.251 1.156 0.311 0.005 0.136 0.240 0.245 0.433 0.260 7.591 0.270 Metallothionein domain|Metallothionein domain\x2c vertebrate|Metallothionein\x2c vertebrate\x2c metal binding site ENSG00000260549.1|ENSG00000169715.10|ENSG00000169715.10|ENSG00000169715.10 Adrenal_Gland|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6037 0.2766 0.6224 0.6254 0.4723 0.7081 0.6575 0.6369 0.5357 0.5469 0.2813 0.6169 0.6291 0.4468 0.7123 0.6618 0.6485 hom 4763.79 166 16 56673227 . C A 4763.79 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6904;MQ=58.73;MQ0=0;QD=28.70;VQSLOD=7.6040;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,165:166:99:4763,379,0 16 56839439 56839439 C T exonic NUP93 synonymous SNV NUP93:NM_001242795:exon3:c.C15T:p.Y5Y,NUP93:NM_001242796:exon3:c.C15T:p.Y5Y,NUP93:NM_014669:exon5:c.C384T:p.Y128Y 0.099 0.048 0.12 0.16 0.11 0.085 0.1012 0.0588 0.1314 0.1413 0.1134 0.0999 0.1233 0.0844 0.093 0.06 0.11 0.076 0.2 rs1803870 COSM3754943 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1038 0.0561 0.1273 0.0986 0.1418 0.1097 0.1022 0.1061 0.0832 0.0920 0.0589 0.1241 0.0828 0.1231 0.1067 0.1033 0.0866 het 1539.59 111 16 56839439 . C T 1539.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.568;DP=111;Dels=0.00;FS=9.298;HRun=0;HaplotypeScore=0.7887;MQ=59.29;MQ0=0;MQRankSum=-1.088;QD=13.87;ReadPosRankSum=-0.325;VQSLOD=4.2419;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,66:111:99:1570,0,1031 16 56855496 56855496 C G exonic NUP93 synonymous SNV NUP93:NM_001242795:exon5:c.C276G:p.L92L,NUP93:NM_001242796:exon5:c.C276G:p.L92L,NUP93:NM_014669:exon7:c.C645G:p.L215L 0.88 0.9 0.85 0.92 0.82 0.87 0.8299 0.8822 0.8762 0.9177 0.7868 0.7991 0.8359 0.8597 0.83 0.88 0.81 0.84 0.77 rs2118017 COSM3754944 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8319 0.8820 0.8676 0.8273 0.9222 0.7896 0.8018 0.8252 0.8601 0.8261 0.8848 0.8568 0.8467 0.9137 0.7923 0.7896 0.8035 hom 4567.63 143 16 56855496 . C G 4567.63 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5877;MQ=58.19;MQ0=0;QD=31.94;VQSLOD=8.8379;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:143:99:4542,343,0 16 56873495 56873495 C T exonic NUP93 synonymous SNV NUP93:NM_001242795:exon18:c.C1830T:p.A610A,NUP93:NM_001242796:exon18:c.C1830T:p.A610A,NUP93:NM_014669:exon20:c.C2199T:p.A733A 0.21 0.21 0.23 0.31 0.15 0.16 0.1797 0.1960 0.2425 0.3160 0.1289 0.1576 0.1615 0.1645 0.17 0.19 0.15 0.2 0.057 rs1138295 COSM3999879 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1804 0.1951 0.2215 0.1475 0.3262 0.1275 0.1610 0.1667 0.1685 0.1735 0.1995 0.2041 0.1424 0.3412 0.1264 0.1517 0.1497 het 722.25 65 16 56873495 . C T 722.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.459;DP=65;Dels=0.00;FS=2.372;HRun=2;HaplotypeScore=3.6588;MQ=59.07;MQ0=0;MQRankSum=0.971;QD=11.11;ReadPosRankSum=1.092;VQSLOD=6.0625;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,29:65:99:752,0,858 16 56904587 56904587 C G exonic SLC12A3 nonsynonymous SNV SLC12A3:NM_000339:exon6:c.C791G:p.A264G,SLC12A3:NM_001126107:exon6:c.C788G:p.A263G,SLC12A3:NM_001126108:exon6:c.C791G:p.A264G 0.99 1. 0.99 1. 0.96 1. 0.9756 0.9929 0.9946 0.9997 0.9631 0.9635 0.9934 0.9916 0.97 0.99 0.96 0.97 0.96 rs1529927 COSM4129132 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.977 0.253 P -2.035 0.002 N -4.74 0.981 D 5.65 0.000 N 0.308 0.369 -0.925 0.449 T 0.000 0.000 T . . . 0.610 0.152 8.224 0.242 0.011 0.059 0.117 N c -0.821 -0.549 1.000 0.747 0.495 0.175 0 4.94 0.645 8.097 0.893 0.136 0.221 1.000 0.715 0.078 0.180 15.451 0.749 Amino acid permease/ SLC12A domain . . 0.9780 0.9942 0.9946 0.9944 0.9998 0.9687 0.9636 0.9807 0.9926 0.9770 0.9922 0.9869 0.9901 1 0.9690 0.9666 0.9764 hom 3471.18 116 16 56904587 . C G 3471.18 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;QD=29.92;VQSLOD=8.6781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:116:99:3471,268,0 16 56920969 56920969 C T exonic SLC12A3 synonymous SNV SLC12A3:NM_000339:exon17:c.C2142T:p.A714A,SLC12A3:NM_001126107:exon17:c.C2139T:p.A713A,SLC12A3:NM_001126108:exon17:c.C2142T:p.A714A 0.15 0.11 0.21 0.22 0.085 0.17 0.1237 0.1258 0.2194 0.2301 0.0914 0.0885 0.1122 0.1549 0.1 0.13 0.093 0.11 0.09 rs5803 COSM4129133 1(thyroid) Benign|Likely benign not_specified|Familial_hypokalemia-hypomagnesemia RCV000242054.1|RCV000358450.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268450:263800:ORPHA358:3188003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1283 0.1274 0.2197 0.1030 0.2278 0.0993 0.0875 0.1141 0.1523 0.1115 0.1322 0.1823 0.1026 0.2280 0.0880 0.0893 0.1010 het 1116.54 76 16 56920969 . C T 1116.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.920;DP=76;Dels=0.00;FS=7.818;HRun=0;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;MQRankSum=0.329;QD=14.69;ReadPosRankSum=0.528;VQSLOD=4.9471;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,42:76:99:1147,0,879 16 56928519 56928519 C T exonic SLC12A3 synonymous SNV SLC12A3:NM_000339:exon22:c.C2625T:p.G875G,SLC12A3:NM_001126107:exon22:c.C2622T:p.G874G,SLC12A3:NM_001126108:exon22:c.C2598T:p.G866G 0.13 0.036 0.2 0.23 0.089 0.16 0.1202 0.0499 0.2207 0.2295 0.0938 0.0927 0.1130 0.1587 0.083 0.054 0.097 0.076 0.13 rs5804 . . Benign|Likely benign not_specified|Familial_hypokalemia-hypomagnesemia RCV000242185.1|RCV000387548.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268450:263800:ORPHA358:3188003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1257 0.0483 0.2190 0.1379 0.2265 0.0993 0.0897 0.1127 0.1538 0.0885 0.0468 0.1850 0.1358 0.2268 0.0881 0.0907 0.1018 het 1134.76 111 16 56928519 . C T 1134.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=111;Dels=0.00;FS=12.703;HRun=0;HaplotypeScore=4.7526;MQ=58.82;MQ0=0;MQRankSum=-0.633;QD=10.22;ReadPosRankSum=-0.348;VQSLOD=2.9291;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,46:111:99:1165,0,1618 16 57016092 57016092 G A exonic CETP nonsynonymous SNV CETP:NM_001286085:exon13:c.G1084A:p.V362I,CETP:NM_000078:exon14:c.G1264A:p.V422I 0.53 0.36 0.6 0.56 0.67 0.55 0.6165 0.4124 0.5654 0.5481 0.6269 0.6776 0.6316 0.5647 0.59 0.41 0.68 0.51 0.74 rs5882 COSM3754947 1(large_intestine) other|Benign High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_10|Hyperalphalipoproteinemia RCV000019077.2|RCV000283037.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C3149463|C0342883:143470:ORPHA181428:238080004 . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.080 B 0.776 0.066 N 1 0.090 P -0.57 0.023 N 3.35 0.060 T 0.52 0.030 N 0.042 0.023 -0.987 0.334 T 0.000 0.000 T . . . -1.294 0.022 0.005 0.244 0.011 0.004 0.021 N c -1.719 -1.775 1.000 0.747 0.497 0.185 0 -6.67 0.016 -2.360 0.012 -1.959 0.005 0.000 0.063 0.000 0.016 8.142 0.301 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c C-terminal . . 0.6192 0.4171 0.5859 0.5936 0.5539 0.6193 0.6840 0.6136 0.5668 0.5930 0.4234 0.5909 0.5629 0.5503 0.6222 0.6882 0.6224 het 723.19 67 16 57016092 . G A 723.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.411;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7791;MQ=59.72;MQ0=0;MQRankSum=-1.841;QD=10.79;ReadPosRankSum=-1.639;VQSLOD=5.1382;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,29:67:99:753,0,950 16 57071113 57071113 T C exonic NLRC5 synonymous SNV NLRC5:NM_032206:exon14:c.T2718C:p.S906S,NLRC5:NM_001330552:exon15:c.T2718C:p.S906S 0.58 0.61 0.61 0.4 0.75 0.52 0.6585 0.6313 0.5680 0.3851 0.7731 0.7327 0.6586 0.5361 0.69 0.63 0.71 . 0.67 rs1684579 COSM5828410;COSM148084 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6578 0.6328 0.5822 0.7693 0.3839 0.7671 0.7280 0.6887 0.5320 0.6867 0.6302 0.6151 0.7550 0.3944 0.7768 0.7307 0.7152 het 1865.51 160 16 57071113 . T C 1865.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.459;DP=160;Dels=0.00;FS=11.220;HRun=0;HaplotypeScore=4.2232;MQ=59.27;MQ0=0;MQRankSum=-0.543;QD=11.66;ReadPosRankSum=0.785;VQSLOD=4.0111;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,77:160:99:1896,0,2067 16 57071114 57071114 A G exonic NLRC5 nonsynonymous SNV NLRC5:NM_032206:exon14:c.A2719G:p.N907D,NLRC5:NM_001330552:exon15:c.A2719G:p.N907D 0.99 1. 0.99 1. 0.99 0.99 0.9891 0.9966 0.9918 0.9993 0.9974 0.9856 0.9868 0.9881 0.99 1. 0.98 0.42 0.94 rs1672867 COSM4129138 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.048 0.232 N 1 0.090 P -1.63 0.004 N 0.62 0.533 T 0.65 0.026 N 0.242 0.320 -1.000 0.300 T 0.000 0.000 T . . . -0.234 0.073 0.930 0.176 0.005 0.001 0.006 N c -1.387 -1.275 1.000 0.747 0.632 0.406 0 1.81 0.240 -0.164 0.099 -0.345 0.071 0.021 0.196 0.762 0.325 4.075 0.093 Leucine-rich repeat domain\x2c L domain-like . . 0.9893 0.9967 0.9924 0.9894 0.9994 0.9963 0.9848 0.9883 0.9878 0.9910 0.9977 0.9904 0.9834 0.9988 0.9963 0.9852 0.9928 hom 4937.86 161 16 57071114 . A G 4937.86 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2259;MQ=59.28;MQ0=0;QD=30.67;VQSLOD=8.5079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:4937,388,0 16 57080528 57080528 C A exonic NLRC5 nonsynonymous SNV NLRC5:NM_032206:exon21:c.C3313A:p.Q1105K,NLRC5:NM_001330552:exon22:c.C3313A:p.Q1105K 0.17 0.034 0.29 0.11 0.25 0.25 0.2484 0.0677 0.3051 0.1257 0.2250 0.2813 0.2434 0.2634 0.22 0.081 0.29 0.14 0.22 rs289723 COSM3999885 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.211 0.195 T 0.017 0.179 B 0.004 0.154 B 0.691 0.061 N 1 0.090 P 2.48 0.723 M -0.51 0.728 T -0.73 0.214 N 0.111 0.265 -1.043 0.164 T 0.000 0.000 T . . . -0.327 0.066 0.576 0.422 0.031 0.074 0.133 N c -0.666 -0.839 1.000 0.747 0.731 0.878 0 1.52 0.221 0.884 0.277 0.852 0.362 0.001 0.137 0.001 0.043 5.058 0.138 . . . 0.2534 0.0646 0.3055 0.3327 0.1297 0.2227 0.2786 0.2594 0.2647 0.1935 0.0632 0.2955 0.2649 0.1392 0.2195 0.2583 0.2485 het 698.85 66 16 57080528 . C A 698.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.497;DP=66;Dels=0.00;FS=3.536;HRun=1;HaplotypeScore=2.7865;MQ=59.08;MQ0=0;MQRankSum=-0.850;QD=10.59;ReadPosRankSum=-1.823;VQSLOD=5.2393;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,28:66:99:729,0,1027 16 57201066 57201066 T A exonic FAM192A nonsynonymous SNV FAM192A:NM_024946:exon5:c.A421T:p.I141L 0.0004 . . . 0.002 . 0.0015 0.0002 0.0004 0 0.0009 0.0026 0 0 0.0024 0.0005 0.0033 . 0.0082 rs143746498 COSM6049392 1(large_intestine) . . . . . . . . . . . 0.538 0.113 T 0.0 0.026 B 0.0 0.013 B 0.360 0.137 N 1 0.090 N -0.35 0.031 N . . . -0.48 0.154 N 0.073 0.192 -1.038 0.179 T 0.060 0.253 T 0.006 0.172 T 0.172 0.110 4.381 0.703 0.090 0.417 0.265 N c -0.827 -0.716 1.000 0.500 0.731 0.878 0 0.348 0.152 0.042 0.137 0.112 0.206 0.936 0.322 0.915 0.391 6.369 0.205 . . . 0.0016 0.0003 0.0010 0.0091 0 0.0009 0.0022 0.0015 0 0.0015 0.0003 0.0024 0.0066 0 0 0.0027 0 het 1540.27 128 16 57201066 . T A 1540.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.000;DP=128;Dels=0.00;FS=0.728;HRun=1;HaplotypeScore=5.6032;MQ=57.72;MQ0=0;MQRankSum=-0.778;QD=12.03;ReadPosRankSum=-0.285;VQSLOD=2.8477;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,58:128:99:1570,0,1953 16 57392733 57392733 A C exonic CCL22 nonsynonymous SNV CCL22:NM_002990:exon1:c.A5C:p.D2A 0.92 0.95 0.84 0.88 0.97 0.91 0.9199 0.9534 0.7765 0.8666 0.9508 0.9473 0.9416 0.9028 0.95 0.95 0.95 0.9 0.95 rs4359426 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.344 N 1.000 0.090 P . . . 4.3 0.025 T 2.49 0.002 N 0.075 0.065 -0.964 0.385 T 0.000 0.000 T . . . -0.060 0.088 2.046 0.708 0.091 0.008 0.033 N c -0.806 -0.740 1.000 0.747 0.487 0.133 0 3.45 0.384 1.033 0.296 0.014 0.141 0.763 0.290 0.024 0.140 8.358 0.313 . . . 0.9151 0.9544 0.7851 0.9525 0.8708 0.9509 0.9478 0.9291 0.9034 0.9447 0.9562 0.8098 0.9536 0.8736 0.9553 0.9505 0.9440 hom 7760.97 248 16 57392733 . A C 7760.97 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6532;MQ=59.57;MQ0=0;QD=31.29;VQSLOD=9.0920;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,247:248:99:7760,596,0 16 57499902 57499902 T C exonic POLR2C synonymous SNV POLR2C:NM_032940:exon3:c.T174C:p.V58V 0.76 0.96 0.65 0.61 0.75 0.72 0.7209 0.9346 0.5654 0.6001 0.6874 0.7411 0.7181 0.6902 0.82 0.93 0.76 0.76 0.8 rs4937 COSM3999888 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7138 0.9390 0.5863 0.7543 0.6140 0.6891 0.7442 0.7255 0.6896 0.7846 0.9345 0.6100 0.7417 0.6421 0.6820 0.7506 0.7331 hom 5557.93 184 16 57499902 . T C 5557.93 Mask AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.22;MQ0=0;QD=30.21;VQSLOD=9.3707;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,184:184:99:5557,424,0 16 57552088 57552088 T C exonic CCDC102A synonymous SNV CCDC102A:NM_033212:exon6:c.A1140G:p.A380A 0.22 0.41 0.16 0.029 0.24 0.15 0.2225 0.3998 0.1191 0.0166 0.2176 0.2546 0.2282 0.1682 0.29 0.39 0.24 0.28 0.28 rs28756858 COSM3754952 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2112 0.3938 0.1273 0.2645 0.0183 0.2199 0.2463 0.2332 0.1686 0.2594 0.3817 0.1527 0.2583 0.0234 0.2287 0.2286 0.2378 het 2630.07 189 16 57552088 . T C 2630.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.665;DP=189;Dels=0.00;FS=4.527;HRun=0;HaplotypeScore=9.2746;MQ=59.28;MQ0=1;MQRankSum=1.129;QD=13.92;ReadPosRankSum=-0.086;VQSLOD=3.7042;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,94:189:99:2660,0,2433 16 57555076 57555076 C T exonic CCDC102A synonymous SNV CCDC102A:NM_033212:exon4:c.G825A:p.A275A 0.18 0.32 0.13 0.03 0.24 0.15 0.2019 0.3020 0.1022 0.0168 0.2049 0.2364 0.2174 0.1643 0.25 0.3 0.22 0.2 0.25 rs28446687 COSM3754953 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1928 0.2979 0.1107 0.1931 0.0184 0.2088 0.2339 0.2127 0.1642 0.2215 0.2795 0.1388 0.2 0.0229 0.2150 0.2164 0.2127 het 1519.48 119 16 57555076 . C T 1519.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.775;DP=119;Dels=0.00;FS=2.694;HRun=0;HaplotypeScore=2.9522;MQ=59.33;MQ0=0;MQRankSum=0.253;QD=12.77;ReadPosRankSum=0.635;VQSLOD=5.7585;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,61:119:99:1549,0,1482 16 57562804 57562804 G A exonic CCDC102A nonsynonymous SNV CCDC102A:NM_033212:exon2:c.C286T:p.R96W 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . . 0.72 rs12935069 COSM3754954 1(skin);2(thyroid);20(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.978 0.253 P -2.41 0.001 N 1.18 0.377 T 12.54 0.000 N 0.327 0.388 -0.930 0.441 T 0.000 0.000 T . . . 2.778 0.395 21.3 0.982 0.386 0.092 0.149 N c -0.718 -0.401 1.000 0.747 0.646 0.450 0 4.82 0.615 7.001 0.759 0.088 0.194 1.000 0.715 0.999 0.750 9.535 0.382 . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1187.11 45 16 57562804 . G A 1187.11 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=26.38;VQSLOD=7.2293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:90.29:1220,90,0 16 57601792 57601792 C T exonic ADGRG5 synonymous SNV ADGRG5:NM_001304376:exon9:c.C846T:p.R282R,ADGRG5:NM_001318481:exon9:c.C846T:p.R282R,ADGRG5:NM_153837:exon9:c.C846T:p.R282R 0.45 0.38 0.5 0.71 0.28 0.44 0.3734 0.375 0.5824 0.7025 0.3074 0.2931 0.3067 0.4093 0.31 0.37 0.28 0.49 0.32 rs9937918 COSM3754955 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3749 0.3677 0.5663 0.3245 0.7053 0.3008 0.2811 0.3516 0.3949 0.3412 0.3736 0.5431 0.3 0.7001 0.2990 0.2851 0.3084 hom 1769.58 62 16 57601792 . C T 1769.58 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=28.54;VQSLOD=7.9273;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1803,144,0 16 57609000 57609000 C G exonic ADGRG5 synonymous SNV ADGRG5:NM_001304376:exon11:c.C1482G:p.L494L,ADGRG5:NM_153837:exon11:c.C1482G:p.L494L 0.12 0.029 0.063 0.37 0.031 0.11 0.0706 0.0430 0.0741 0.3371 0.0301 0.0319 0.0504 0.1238 0.041 0.049 0.037 0.098 0.049 rs16957788 COSM148085 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0699 0.0403 0.0752 0.0078 0.3388 0.0332 0.0331 0.0457 0.1083 0.0503 0.0385 0.0586 0.0033 0.3148 0.0306 0.0345 0.0378 het 429.04 58 16 57609000 . C G 429.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.499;DP=58;Dels=0.00;FS=5.801;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=0.313;QD=7.40;ReadPosRankSum=0.990;VQSLOD=4.7030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,19:58:99:459,0,1053 16 57689385 57689385 C G exonic ADGRG1 nonsynonymous SNV ADGRG1:NM_001145773:exon6:c.C858G:p.S286R,ADGRG1:NM_001290142:exon6:c.C333G:p.S111R,ADGRG1:NM_001290143:exon6:c.C318G:p.S106R,ADGRG1:NM_001290144:exon6:c.C318G:p.S106R,ADGRG1:NM_201525:exon6:c.C843G:p.S281R,ADGRG1:NM_001145770:exon7:c.C843G:p.S281R,ADGRG1:NM_001145771:exon7:c.C843G:p.S281R,ADGRG1:NM_001145772:exon7:c.C843G:p.S281R,ADGRG1:NM_001145774:exon7:c.C843G:p.S281R,ADGRG1:NM_005682:exon7:c.C843G:p.S281R,ADGRG1:NM_201524:exon7:c.C843G:p.S281R 0.72 0.89 0.71 0.86 0.5 0.59 0.5918 0.8348 0.7609 0.8512 0.6013 0.4969 0.5798 0.5645 0.61 0.82 0.49 0.73 0.42 rs1801257 COSM435429 1(thyroid) other not_specified RCV000146060.4 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.020 0.270 N 1 0.090 P -2.47 0.001 N 1.11 0.389 T 0.54 0.028 N 0.019 0.165 -0.982 0.346 T 0.000 0.000 T . . . -1.494 0.017 0.003 0.204 0.007 0.003 0.018 N c -2.118 -2.056 1.000 0.446 0.713 0.817 0 -6.2 0.019 -1.572 0.022 -1.660 0.008 0.000 0.063 0.000 0.016 8.518 0.322 . . . 0.5934 0.8387 0.7460 0.5152 0.8559 0.5954 0.4890 0.5639 0.5655 0.6205 0.8280 0.7273 0.4901 0.8511 0.5933 0.4838 0.5204 het 877.76 59 16 57689385 . C G 877.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.994;DP=59;Dels=0.00;FS=2.245;HRun=4;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=0.493;QD=14.88;ReadPosRankSum=1.145;VQSLOD=6.0683;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,30:59:99:908,0,714 16 57689883 57689883 T C exonic ADGRG1 synonymous SNV ADGRG1:NM_001145773:exon7:c.T1011C:p.T337T,ADGRG1:NM_001290142:exon7:c.T486C:p.T162T,ADGRG1:NM_001290143:exon7:c.T471C:p.T157T,ADGRG1:NM_001290144:exon7:c.T471C:p.T157T,ADGRG1:NM_201525:exon7:c.T996C:p.T332T,ADGRG1:NM_001145770:exon8:c.T996C:p.T332T,ADGRG1:NM_001145771:exon8:c.T996C:p.T332T,ADGRG1:NM_001145772:exon8:c.T996C:p.T332T,ADGRG1:NM_001145774:exon8:c.T996C:p.T332T,ADGRG1:NM_005682:exon8:c.T996C:p.T332T,ADGRG1:NM_201524:exon8:c.T996C:p.T332T 0.82 0.98 0.86 0.8 0.71 0.69 0.7566 0.9471 0.9032 0.8093 0.7700 0.7121 0.7483 0.6807 0.78 0.94 0.71 0.84 0.73 rs1376041 COSM435430 1(haematopoietic_and_lymphoid_tissue) other not_specified RCV000146064.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7589 0.9525 0.8944 0.7469 0.8092 0.7650 0.7055 0.7517 0.6809 0.7881 0.9455 0.8840 0.7333 0.8089 0.7798 0.6962 0.7214 het 2224.65 197 16 57689883 . T C 2224.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.829;DP=197;Dels=0.00;FS=2.610;HRun=1;HaplotypeScore=10.8627;MQ=59.44;MQ0=0;MQRankSum=0.366;QD=11.29;ReadPosRankSum=-1.341;VQSLOD=3.8231;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,83:197:99:2255,0,3125 16 57693498 57693498 T C exonic ADGRG1 nonsynonymous SNV ADGRG1:NM_001145773:exon11:c.T1475C:p.M492T,ADGRG1:NM_001290142:exon11:c.T968C:p.M323T,ADGRG1:NM_001290143:exon11:c.T953C:p.M318T,ADGRG1:NM_001290144:exon11:c.T935C:p.M312T,ADGRG1:NM_201525:exon11:c.T1460C:p.M487T,ADGRG1:NM_001145770:exon12:c.T1460C:p.M487T,ADGRG1:NM_001145771:exon12:c.T1478C:p.M493T,ADGRG1:NM_001145772:exon12:c.T1460C:p.M487T,ADGRG1:NM_001145774:exon12:c.T1460C:p.M487T,ADGRG1:NM_005682:exon12:c.T1478C:p.M493T,ADGRG1:NM_201524:exon12:c.T1460C:p.M487T 0.017 0.0008 0.053 . 0.036 0.011 0.0320 0.0051 0.0313 0.0006 0.0697 0.0408 0.0277 0.0156 0.025 0.0061 0.035 0.011 0.016 rs17379472 . . other not_specified RCV000146040.3 MedGen CN169374 . . . . . . 0.044 0.410 D 0.994 0.689 D 0.9 0.699 P 0.000 0.523 D 1 0.810 D 2.755 0.808 M 0.63 0.531 T -5.94 0.891 D 0.32 0.839 -0.627 0.637 T 0.103 0.379 T . . . 5.656 0.771 26.7 0.994 0.639 0.949 0.623 D c 0.730 0.684 1.000 0.747 0.707 0.730 0 4.9 0.635 5.950 0.698 1.011 0.635 1.000 0.715 1.000 0.888 13.715 0.620 GPCR\x2c family 2-like . . 0.0331 0.0052 0.0337 0.0141 0.0006 0.0727 0.0403 0.0323 0.0157 0.0332 0.0071 0.0394 0.0099 0 0.0767 0.0416 0.0399 het 2668.77 188 16 57693498 . T C 2668.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.999;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5237;MQ=59.33;MQ0=0;MQRankSum=0.582;QD=14.20;ReadPosRankSum=0.044;VQSLOD=5.4273;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,103:188:99:2699,0,2180 16 57937856 57937856 G C exonic CNGB1 synonymous SNV CNGB1:NM_001286130:exon27:c.C2646G:p.A882A,CNGB1:NM_001297:exon27:c.C2664G:p.A888A 0.7 0.4 0.73 0.91 0.76 0.84 0.7604 0.4395 0.7628 0.9175 0.8129 0.7647 0.7706 0.8280 0.79 0.66 0.85 0.67 0.75 rs413562 . . Benign|Benign\x2cBenign|Likely benign not_specified|Retinitis_Pigmentosa\x2c_Recessive\x2cnot_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000153043.4|RCV000371770.1\x2cRCV000079632.4|RCV000262366.1 MedGen|MedGen\x2cMedGen|MedGen CN169374|CN239466\x2cCN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7653 0.4384 0.7615 0.7003 0.9178 0.8157 0.7662 0.7571 0.8282 0.6862 0.4455 0.7590 0.6788 0.9136 0.8200 0.7603 0.7811 hom 1528.75 53 16 57937856 . G C 1528.75 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.84;VQSLOD=13.5701;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1562,141,0 16 57938755 57938755 A G exonic CNGB1 synonymous SNV CNGB1:NM_001286130:exon26:c.T2499C:p.A833A,CNGB1:NM_001297:exon26:c.T2517C:p.A839A 0.012 0.003 0.0072 . 0.05 0.001 0.0292 0.0053 0.0070 0 0.1140 0.0386 0.0289 0.0022 0.026 0.0059 0.035 . 0.016 rs17821412 . . Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000294159.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0306 0.0047 0.0100 0.0122 5.798e-05 0.1126 0.0378 0.0318 0.0029 0.0342 0.0056 0.0107 0.0066 0 0.1014 0.0397 0.05 het 1164.03 140 16 57938755 . A G 1164.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.504;DP=140;Dels=0.00;FS=0.667;HRun=1;HaplotypeScore=4.6274;MQ=59.22;MQ0=0;MQRankSum=-1.106;QD=8.31;ReadPosRankSum=-0.028;VQSLOD=4.9642;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,52:140:99:1194,0,2462 16 57949224 57949224 G T exonic CNGB1 nonsynonymous SNV CNGB1:NM_001286130:exon23:c.C2215A:p.L739I,CNGB1:NM_001297:exon23:c.C2233A:p.L745I 0.092 0.1 0.11 0.014 0.17 0.068 0.1351 0.1083 0.0665 0.0093 0.1894 0.1699 0.1621 0.1026 0.14 0.11 0.15 0.076 0.09 rs10459809 . . Benign|not provided|Likely benign not_specified|not_provided|Retinitis_Pigmentosa\x2c_Recessive RCV000079630.4|RCV000086948.1|RCV000345480.1 MedGen|MedGen|MedGen CN169374|CN221809|CN239466 . . . . . . 0.199 0.204 T 0.46 0.345 P 0.279 0.392 B 0.000 0.843 D 0.000 0.588 P 1.51 0.383 L -4.22 0.970 D -0.66 0.191 N 0.217 0.414 -0.886 0.493 T 0.013 0.049 T . . . 2.376 0.347 18.66 0.991 0.520 0.983 0.815 D c 0.151 0.234 1.000 0.747 0.497 0.185 0 5.56 0.836 6.414 0.730 1.045 0.669 1.000 0.715 0.727 0.316 18.513 0.908 Ion transport domain . . 0.1308 0.1032 0.0713 0.1468 0.0098 0.1752 0.1681 0.1472 0.1018 0.1490 0.1068 0.0931 0.1577 0.0092 0.1712 0.1838 0.1904 het 75.64 26 16 57949224 . G T 75.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.757;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=0.390;QD=2.91;ReadPosRankSum=-1.692;VQSLOD=3.9700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,5:26:99:106,0,625 16 57953010 57953010 C G exonic CNGB1 synonymous SNV CNGB1:NM_001286130:exon20:c.G1932C:p.P644P,CNGB1:NM_001297:exon20:c.G1950C:p.P650P 0.048 0.098 0.049 0.012 0.045 0.021 0.0461 0.0888 0.0242 0.0089 0.0519 0.0496 0.0635 0.0382 0.06 0.083 0.049 0.022 0.057 rs35424571 . . Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000355219.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0444 0.0859 0.0258 0.0442 0.0096 0.0485 0.0499 0.0499 0.0394 0.0648 0.0896 0.0298 0.0364 0.0093 0.0429 0.0636 0.0713 het 767.04 75 16 57953010 . C G 767.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.669;DP=75;Dels=0.00;FS=2.055;HRun=3;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=-0.674;QD=10.23;ReadPosRankSum=1.087;VQSLOD=5.8044;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,29:75:99:797,0,1212 16 57957194 57957194 G A exonic CNGB1 synonymous SNV CNGB1:NM_001286130:exon18:c.C1608T:p.T536T,CNGB1:NM_001297:exon18:c.C1626T:p.T542T 0.0012 . . . 0.002 0.0041 0.0034 0.0009 0.0010 0 0.0032 0.0046 0.0045 0.0038 0.0032 0.0008 0.0044 . . rs148735841 . . Likely benign|Uncertain significance not_specified|Retinitis_Pigmentosa\x2c_Recessive RCV000175289.1|RCV000384870.1 MedGen|MedGen CN169374|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0034 0.0008 0.0015 0.0005 0 0.0043 0.0050 0.0033 0.0035 0.0033 0.0003 0.0012 0 0 0.0049 0.0051 0.0062 het 747.28 60 16 57957194 . G A 747.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.349;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7766;MQ=59.72;MQ0=0;MQRankSum=-0.142;QD=12.45;ReadPosRankSum=0.485;VQSLOD=4.3931;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,34:60:99:777,0,712 16 57957216 57957216 A G exonic CNGB1 nonsynonymous SNV CNGB1:NM_001286130:exon18:c.T1586C:p.V529A,CNGB1:NM_001297:exon18:c.T1604C:p.V535A 0.049 0.1 0.049 0.014 0.045 0.022 0.0465 0.0898 0.0242 0.0108 0.0510 0.0500 0.0647 0.0385 0.062 0.086 0.05 0.022 0.057 rs12927214 COSM4989413 3(soft_tissue) not provided|Likely benign not_provided|Retinitis_Pigmentosa\x2c_Recessive RCV000086947.1|RCV000283537.1 MedGen|MedGen CN221809|CN239466 . . . . . . 0.124 0.274 T 0.287 0.305 B 0.085 0.279 B 0.057 0.225 N 1 0.090 N 1.61 0.413 L 2.07 0.204 T -2.0 0.461 N 0.048 0.141 -1.059 0.120 T 0.002 0.007 T . . . -0.211 0.075 1.041 0.922 0.210 0.094 0.150 N c -0.592 -0.663 0.048 0.148 0.549 0.223 0 2.76 0.314 0.705 0.252 1.194 0.916 0.026 0.200 0.464 0.265 6.096 0.191 . . . 0.0446 0.0862 0.0259 0.0443 0.0110 0.0480 0.0502 0.0500 0.0398 0.0649 0.0900 0.0298 0.0364 0.0105 0.0421 0.0635 0.0729 het 726.92 77 16 57957216 . A G 726.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.380;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8499;MQ=60.08;MQ0=0;MQRankSum=0.201;QD=9.44;ReadPosRankSum=-0.211;VQSLOD=6.1088;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,33:77:99:757,0,1085 16 57996932 57996932 G A exonic CNGB1 synonymous SNV CNGB1:NM_001135639:exon5:c.C327T:p.G109G,CNGB1:NM_001286130:exon5:c.C327T:p.G109G,CNGB1:NM_001297:exon5:c.C327T:p.G109G 0.31 0.055 0.3 0.34 0.5 0.46 0.4304 0.1079 0.3458 0.3373 0.5273 0.4937 0.4311 0.4353 0.37 0.12 0.49 0.25 0.37 rs17821448 . . Likely benign Retinitis_Pigmentosa\x2c_Recessive RCV000315263.1 MedGen CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4312 0.1065 0.3539 0.4294 0.3319 0.5181 0.4955 0.4623 0.4333 0.3774 0.1144 0.3720 0.4073 0.3267 0.5221 0.4947 0.4847 het 932.16 104 16 57996932 . G A 932.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.901;DP=104;Dels=0.00;FS=1.696;HRun=0;HaplotypeScore=2.8374;MQ=60.00;MQ0=0;MQRankSum=-0.569;QD=8.96;ReadPosRankSum=-0.590;VQSLOD=5.7293;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,43:104:99:962,0,1467 16 57996960 57996960 C T exonic CNGB1 nonsynonymous SNV CNGB1:NM_001135639:exon5:c.G299A:p.R100H,CNGB1:NM_001286130:exon5:c.G299A:p.R100H,CNGB1:NM_001297:exon5:c.G299A:p.R100H 0.75 0.68 0.85 0.82 0.76 0.7 0.7755 0.6948 0.8897 0.8494 0.8242 0.7702 0.7611 0.7077 0.76 0.72 0.77 0.72 0.75 rs13336595 . . Benign Retinitis_Pigmentosa\x2c_Recessive RCV000344386.1 MedGen CN239466 . . . . . . 0.156 0.330 T 0.991 0.622 D 0.396 0.426 B . . . 1 0.090 P 0.69 0.170 N -4.04 0.965 D -0.59 0.197 N 0.029 0.271 -0.904 0.476 T 0.000 0.000 T . . . 3.135 0.436 22.6 0.994 0.608 0.024 0.067 N c -0.635 -0.756 0.429 0.203 0.497 0.185 0 1.88 0.245 0.277 0.184 -0.573 0.046 0.000 0.063 0.000 0.016 5.543 0.162 . . . 0.7819 0.6923 0.8774 0.6831 0.8436 0.8377 0.7745 0.7731 0.7092 0.7681 0.6982 0.8496 0.6523 0.8426 0.8351 0.7819 0.7816 het 785.36 78 16 57996960 . C T 785.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.973;DP=78;Dels=0.00;FS=4.479;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.047;QD=10.07;ReadPosRankSum=-1.352;VQSLOD=5.7351;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,32:78:99:815,0,1152 16 58019396 58019396 G A exonic TEPP nonsynonymous SNV TEPP:NM_199046:exon6:c.G779A:p.S260N,TEPP:NM_199456:exon6:c.G698A:p.S233N 0.78 0.95 0.58 0.56 0.86 0.86 0.8002 0.9381 0.5012 0.5402 0.8474 0.8466 0.8363 0.8512 0.88 0.94 0.85 0.78 0.55 rs9934227 COSM4129151 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.405 N 1 0.090 P -2.695 0.000 N 1.08 0.407 T 2.47 0.003 N 0.005 0.002 -0.982 0.345 T 0.000 0.000 T . . . 0.999 0.190 10.66 0.943 0.239 0.068 0.127 N c -1.191 -0.889 1.000 0.517 0.652 0.477 0 1.54 0.222 0.416 0.208 0.149 0.237 0.992 0.373 0.997 0.653 7.896 0.287 . ENSG00000159648.7|ENSG00000159648.7|ENSG00000159648.7|ENSG00000103037.7|ENSG00000159648.7|ENSG00000159648.7|ENSG00000159648.7|ENSG00000159648.7|ENSG00000159648.7|ENSG00000159648.7|ENSG00000159648.7|ENSG00000159648.7|ENSG00000159648.7|ENSG00000159648.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.7848 0.9404 0.5215 0.8614 0.5368 0.8309 0.8466 0.8045 0.8486 0.8486 0.9350 0.5803 0.8808 0.5479 0.8478 0.8459 0.8364 hom 3921.66 133 16 58019396 . G A 3921.66 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.706;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5953;MQ=58.61;MQ0=0;MQRankSum=-0.184;QD=29.49;ReadPosRankSum=-1.102;VQSLOD=8.3100;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,132:133:99:3921,316,0 16 58030634 58030634 C T exonic ZNF319 synonymous SNV ZNF319:NM_020807:exon2:c.G1536A:p.K512K 0.67 0.8 0.49 0.54 0.69 0.74 0.6698 0.7751 0.4585 0.5260 0.6647 0.6914 0.6740 0.7274 0.72 0.77 0.69 0.69 0.48 rs3743556 COSM4129152 5(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6481 0.7741 0.4533 0.6959 0.5072 0.6410 0.6889 0.6602 0.7205 0.6892 0.7748 0.5012 0.7086 0.4981 0.6335 0.6845 0.6694 hom 755.53 23 16 58030634 . C T 755.53 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.583;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.226;QD=32.85;ReadPosRankSum=0.829;VQSLOD=12.9353;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,22:23:66.20:789,66,0 16 58318604 58318604 T C exonic PRSS54 nonsynonymous SNV PRSS54:NM_001305174:exon5:c.A247G:p.S83G,PRSS54:NM_001080492:exon6:c.A544G:p.S182G,PRSS54:NM_001305173:exon6:c.A544G:p.S182G 0.54 0.77 0.37 0.39 0.55 0.47 0.5209 0.7463 0.3527 0.3730 0.4682 0.5481 0.4813 0.4875 0.62 0.74 0.56 0.56 0.6 rs3815803 COSM148088 1(stomach);4(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.161 0.236 T 0.767 0.418 P 0.262 0.378 B 0.000 0.629 D 0.512 0.316 P 2.37 0.685 M 0.29 0.895 T -1.96 0.468 N 0.324 0.436 -0.948 0.414 T 0.000 0.000 T . . . 1.904 0.290 15.61 0.962 0.284 0.630 0.317 D c -0.217 -0.194 1.000 0.747 0.603 0.348 0 3.28 0.365 2.001 0.402 0.144 0.231 1.000 0.715 0.984 0.507 7.458 0.263 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain;Serine proteases\x2c trypsin domain ENSG00000103023.7 Testis 0.5106 0.7504 0.3663 0.5470 0.3753 0.4706 0.5532 0.5088 0.4875 0.5768 0.7523 0.4139 0.5927 0.4119 0.4659 0.5328 0.4908 het 1613.71 116 16 58318604 . T C 1613.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.318;DP=116;Dels=0.00;FS=4.702;HRun=1;HaplotypeScore=4.4549;MQ=59.64;MQ0=0;MQRankSum=1.274;QD=13.91;ReadPosRankSum=0.671;VQSLOD=5.0233;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,60:116:99:1644,0,1321 16 58327646 58327646 A G exonic PRSS54 synonymous SNV PRSS54:NM_001080492:exon3:c.T75C:p.Y25Y,PRSS54:NM_001305173:exon3:c.T75C:p.Y25Y 0.73 0.91 0.62 0.63 0.78 0.64 0.7445 0.8975 0.5671 0.6174 0.8155 0.7829 0.7193 0.6530 0.81 0.89 0.78 0.73 0.7 rs2288012 COSM148089 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7286 0.8960 0.5731 0.7480 0.6124 0.8081 0.7781 0.7315 0.6388 0.8073 0.9024 0.6298 0.7733 0.6200 0.8193 0.7811 0.7892 het 119.78 17 16 58327646 . A G 119.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.653;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=-0.251;QD=7.05;ReadPosRankSum=-0.352;VQSLOD=6.0932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,6:17:99:150,0,322 16 58542901 58542901 G A exonic NDRG4 synonymous SNV NDRG4:NM_001242834:exon11:c.G819A:p.T273T,NDRG4:NM_001242835:exon11:c.G765A:p.T255T,NDRG4:NM_001242836:exon11:c.G765A:p.T255T,NDRG4:NM_001242833:exon12:c.G855A:p.T285T,NDRG4:NM_001130487:exon13:c.G921A:p.T307T,NDRG4:NM_020465:exon13:c.G861A:p.T287T,NDRG4:NM_022910:exon13:c.G861A:p.T287T 0.36 0.38 0.24 0.57 0.21 0.35 0.2748 0.3756 0.2512 0.5903 0.1959 0.2181 0.2339 0.3255 0.26 0.37 0.2 0.34 0.15 rs867583 COSM5459855;COSM5459857;COSM5459856 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2654 0.3740 0.2458 0.2535 0.5781 0.1904 0.2088 0.2370 0.3263 0.2694 0.3661 0.2506 0.2450 0.5793 0.1933 0.2014 0.2280 het 521.57 55 16 58542901 . G A 521.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.755;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=58.67;MQ0=0;MQRankSum=0.528;QD=9.48;ReadPosRankSum=0.754;VQSLOD=6.4959;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,21:55:99:552,0,841 16 58545426 58545426 A G exonic NDRG4 synonymous SNV NDRG4:NM_001242834:exon14:c.A1020G:p.S340S,NDRG4:NM_001242836:exon14:c.A966G:p.S322S,NDRG4:NM_001242833:exon15:c.A1056G:p.S352S,NDRG4:NM_001242835:exon15:c.A1005G:p.S335S,NDRG4:NM_001130487:exon16:c.A1122G:p.S374S,NDRG4:NM_020465:exon16:c.A1062G:p.S354S,NDRG4:NM_022910:exon16:c.A1062G:p.S354S 0.81 0.96 0.74 0.97 0.56 0.78 0.6629 0.8984 0.7948 0.9653 0.5893 0.5483 0.6236 0.7528 0.65 0.88 0.54 0.76 0.46 rs42945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6591 0.9013 0.7747 0.6511 0.9632 0.5894 0.5349 0.6189 0.7508 0.6784 0.8931 0.7578 0.6656 0.9672 0.6020 0.5408 0.6041 hom 3521.03 111 16 58545426 . A G 3521.03 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;QD=31.72;VQSLOD=8.7583;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3520,289,0 16 58552921 58552921 G A exonic SETD6 synonymous SNV SETD6:NM_001160305:exon8:c.G1410A:p.E470E,SETD6:NM_024860:exon9:c.G1338A:p.E446E 0.77 0.8 0.71 0.95 0.56 0.79 0.6527 0.7569 0.7786 0.9545 0.5558 0.5584 0.6172 0.7622 0.62 0.76 0.55 0.73 0.52 rs3607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6511 0.7569 0.7601 0.6347 0.9534 0.5573 0.5495 0.6131 0.7539 0.6358 0.7509 0.7387 0.6324 0.9574 0.5702 0.5467 0.5900 hom 2680.77 89 16 58552921 . G A 2680.77 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=30.12;VQSLOD=8.6765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2714,223,0 16 58575489 58575489 G A exonic CNOT1 synonymous SNV CNOT1:NM_001265612:exon34:c.C4701T:p.Y1567Y,CNOT1:NM_016284:exon34:c.C4716T:p.Y1572Y 0.49 0.67 0.3 0.57 0.32 0.45 0.3684 0.6042 0.3097 0.5868 0.2612 0.3096 0.3348 0.4292 0.4 0.6 0.29 0.47 0.28 rs11540994 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3553 0.6056 0.3048 0.3731 0.5722 0.2568 0.2999 0.3315 0.4352 0.3873 0.5912 0.3266 0.3444 0.5673 0.2725 0.2850 0.3163 het 1620.89 133 16 58575489 . G A 1620.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.705;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=59.86;MQ0=0;MQRankSum=-0.016;QD=12.19;ReadPosRankSum=-0.214;VQSLOD=6.5407;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,64:133:99:1651,0,1770 16 58579274 58579274 C T exonic CNOT1 synonymous SNV CNOT1:NM_001265612:exon30:c.G4113A:p.L1371L,CNOT1:NM_016284:exon30:c.G4128A:p.L1376L,CNOT1:NM_206999:exon30:c.G4128A:p.L1376L 0.28 0.13 0.41 0.38 0.24 0.34 0.2832 0.1523 0.4687 0.3685 0.2946 0.2486 0.2841 0.3266 0.22 0.15 0.26 0.26 0.25 rs246258 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2952 0.1513 0.4550 0.2599 0.3810 0.3004 0.2501 0.2820 0.3182 0.2483 0.1589 0.4141 0.2881 0.3892 0.2974 0.2620 0.2724 het 1320.34 109 16 58579274 . C T 1320.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.664;DP=109;Dels=0.00;FS=1.573;HRun=2;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;MQRankSum=-0.748;QD=12.11;ReadPosRankSum=-1.476;VQSLOD=6.1493;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,55:109:99:1350,0,1539 16 58587737 58587737 C T exonic CNOT1 synonymous SNV CNOT1:NM_001265612:exon22:c.G2904A:p.Q968Q,CNOT1:NM_016284:exon22:c.G2919A:p.Q973Q,CNOT1:NM_206999:exon22:c.G2919A:p.Q973Q 0.49 0.67 0.3 0.57 0.32 0.45 0.3683 0.6045 0.3097 0.5866 0.2610 0.3095 0.3355 0.4291 0.4 0.6 0.29 0.47 0.27 rs11866002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3511 0.6012 0.2982 0.3712 0.5680 0.2551 0.2978 0.3278 0.4283 0.3870 0.5913 0.3242 0.3444 0.5680 0.2723 0.2845 0.3166 het 1375.61 121 16 58587737 . C T 1375.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.026;DP=121;Dels=0.00;FS=0.673;HRun=1;HaplotypeScore=1.9152;MQ=58.34;MQ0=0;MQRankSum=1.050;QD=11.37;ReadPosRankSum=1.325;VQSLOD=5.7956;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,61:121:99:1406,0,1413 16 58713798 58713798 G A exonic SLC38A7 nonsynonymous SNV SLC38A7:NM_001308384:exon2:c.C233T:p.T78I,SLC38A7:NM_018231:exon3:c.C233T:p.T78I 0.11 0.1 0.078 0.023 0.19 0.16 0.1645 0.1157 0.0705 0.0319 0.1988 0.2015 0.1632 0.1679 0.17 0.12 0.19 0.087 0.15 rs7191331 . . . . . . . . . . . . . 0.108 0.323 T 0.005 0.126 B 0.013 0.158 B 0.000 0.497 D 0.343 0.810 P 0 0.065 N 4.35 0.336 T -1.45 0.439 N 0.119 0.366 -0.769 0.569 T 0.000 0.000 T . . . 1.290 0.220 12.22 0.956 0.267 0.847 0.435 D c -0.287 -0.090 0.996 0.346 0.745 0.986 0 5.91 0.952 2.367 0.436 1.044 0.665 0.992 0.373 0.743 0.320 12.495 0.551 Amino acid transporter\x2c transmembrane domain ENSG00000125166.8 Cells_Transformed_fibroblasts 0.1584 0.1106 0.0737 0.2137 0.0312 0.1826 0.1977 0.1604 0.1682 0.1591 0.1117 0.0957 0.2119 0.0247 0.1838 0.1962 0.1853 het 1250.08 71 16 58713798 . G A 1250.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.406;DP=71;Dels=0.00;FS=1.011;HRun=1;HaplotypeScore=0.8941;MQ=59.39;MQ0=0;MQRankSum=-1.041;QD=17.61;ReadPosRankSum=0.912;VQSLOD=5.7919;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,43:71:99:1280,0,799 16 58743454 58743454 A C exonic GOT2 nonsynonymous SNV GOT2:NM_001286220:exon8:c.T908G:p.V303G,GOT2:NM_002080:exon9:c.T1037G:p.V346G 0.76 0.9 0.78 0.66 0.71 0.69 0.7117 0.8689 0.7889 0.6620 0.6434 0.6892 0.7174 0.7025 0.75 0.86 0.69 0.79 0.66 rs30842 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.642 0.306 P -1.765 0.003 N -2.64 0.902 D 3.44 0.001 N 0.125 0.141 -0.944 0.420 T 0.000 0.000 T . . . 1.481 0.240 13.21 0.558 0.053 0.406 0.262 N c -0.586 -0.289 0.842 0.249 0.707 0.730 0 5.31 0.750 2.618 0.458 0.067 0.174 1.000 0.715 0.998 0.697 14.655 0.683 Aminotransferase\x2c class I/classII|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 1 ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000260451.1|ENSG00000125166.8|ENSG00000103042.4|ENSG00000125166.8|ENSG00000125166.8 Adipose_Subcutaneous|Artery_Aorta|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.7112 0.8737 0.7843 0.7887 0.6562 0.6455 0.6814 0.7329 0.7091 0.7337 0.8756 0.7835 0.7550 0.6578 0.6400 0.6813 0.6776 hom 8734.47 250 16 58743454 . A C 8734.47 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6484;MQ=59.31;MQ0=0;QD=34.94;VQSLOD=8.4168;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8734,689,0 16 58750604 58750604 G A exonic GOT2 synonymous SNV GOT2:NM_001286220:exon6:c.C687T:p.C229C,GOT2:NM_002080:exon7:c.C816T:p.C272C 0.72 0.89 0.77 0.65 0.67 0.58 0.6703 0.8524 0.7662 0.6438 0.6228 0.6483 0.6726 0.6102 0.71 0.84 0.65 0.77 0.6 rs1058192 COSM1128916 1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6724 0.8567 0.7637 0.7656 0.6421 0.6252 0.6402 0.6994 0.6140 0.7060 0.8569 0.7644 0.7333 0.6501 0.6159 0.6453 0.6472 hom 3223.52 107 16 58750604 . G A 3223.52 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5509;MQ=57.92;MQ0=0;QD=30.13;VQSLOD=6.9219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,106:107:99:3257,274,0 16 58757668 58757668 A C exonic GOT2 synonymous SNV GOT2:NM_001286220:exon2:c.T228G:p.V76V,GOT2:NM_002080:exon2:c.T228G:p.V76V 0.71 0.87 0.76 0.63 0.66 0.58 0.6643 0.8334 0.7552 0.6348 0.5945 0.6466 0.6648 0.6092 0.71 0.83 0.65 0.76 0.61 rs14221 COSM3999894 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6661 0.8373 0.7532 0.7656 0.6336 0.5963 0.6396 0.6962 0.6135 0.6937 0.8355 0.7548 0.7318 0.6385 0.5851 0.6423 0.6347 hom 8327.02 250 16 58757668 . A C 8327.02 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9800;MQ=59.31;MQ0=0;QD=33.31;VQSLOD=8.7577;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8299,635,0 16 58757683 58757683 A G exonic GOT2 synonymous SNV GOT2:NM_001286220:exon2:c.T213C:p.N71N,GOT2:NM_002080:exon2:c.T213C:p.N71N 0.69 0.82 0.76 0.6 0.66 0.58 0.6585 0.7988 0.7502 0.6056 0.5947 0.6464 0.6634 0.6077 0.7 0.79 0.65 0.72 0.61 rs257636 COSM4129159 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6610 0.8030 0.7475 0.7655 0.6069 0.5962 0.6394 0.6936 0.6120 0.6821 0.8031 0.7452 0.7318 0.6061 0.5851 0.6413 0.6344 hom 7648.92 246 16 58757683 . A G 7648.92 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.718;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4285;MQ=59.28;MQ0=0;MQRankSum=-1.366;QD=31.09;ReadPosRankSum=-1.127;VQSLOD=5.1213;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,245:246:99:7647,638,0 16 58768129 58768129 C A exonic GOT2 nonsynonymous SNV GOT2:NM_001286220:exon1:c.G4T:p.A2S,GOT2:NM_002080:exon1:c.G4T:p.A2S 0.043 0.0045 0.043 . 0.12 0.061 0.1218 0.0286 0.0540 0.0002 0.2139 0.1618 0.1332 0.0881 0.083 0.023 0.11 0.033 0.016 rs11558171 COSM435472 2(large_intestine) . . . . . . . . . . . 0.108 0.294 T 0.984 0.588 D 0.935 0.653 D 0.000 0.843 D 0.954 0.379 D 1.12 0.289 L 2.14 0.204 T -0.02 0.075 N 0.223 0.282 -1.175 0.004 T 0.002 0.005 T . . . 5.154 0.695 25.4 0.974 0.334 0.065 0.124 N c 0.477 0.489 1.0 0.983 0.442 0.072 0 4.94 0.645 3.420 0.522 0.935 0.490 1.000 0.715 0.994 0.587 13.550 0.610 . ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8|ENSG00000125166.8 Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal|Stomach|Testis|Whole_Blood 0.0966 0.0200 0.0370 0.1419 0.0002 0.1349 0.1245 0.1009 0.0660 0.0944 0.0233 0.0632 0.1391 0.0012 0.1368 0.1348 0.1235 het 339.08 34 16 58768129 . C A 339.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.838;DP=34;Dels=0.00;FS=1.725;HRun=0;HaplotypeScore=1.6646;MQ=58.63;MQ0=0;MQRankSum=0.271;QD=9.97;ReadPosRankSum=0.705;VQSLOD=5.5375;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,15:34:99:369,0,511 16 65016087 65016087 A C exonic CDH11 nonsynonymous SNV CDH11:NM_001330576:exon7:c.T739G:p.S247A,CDH11:NM_001308392:exon8:c.T1117G:p.S373A,CDH11:NM_001797:exon8:c.T1117G:p.S373A 0.75 0.38 0.76 0.99 0.81 0.9 0.8043 0.4375 0.8416 0.9987 0.8030 0.8090 0.8183 0.8880 0.69 0.45 0.82 0.67 0.8 rs35213 . . . . . . . . . . . . . 0.716 0.070 T 0.001 0.067 B 0.004 0.093 B 0.015 0.283 N 1 0.090 P 1.52 0.385 L 4.7 0.017 T -0.81 0.229 N 0.033 0.030 -0.969 0.375 T 0.000 0.000 T . . . -0.605 0.050 0.122 0.409 0.029 0.030 0.078 N c -1.058 -1.045 0.769 0.236 0.707 0.730 0 1.34 0.209 -0.147 0.101 -0.405 0.062 0.000 0.063 0.089 0.185 5.403 0.155 Cadherin|Cadherin-like . . 0.8125 0.4346 0.8313 0.8152 0.9984 0.8035 0.8110 0.8097 0.8876 0.7215 0.4484 0.8213 0.8046 0.9981 0.7975 0.8188 0.8184 hom 4432.88 149 16 65016087 . A C 4432.88 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8592;MQ=59.27;MQ0=0;QD=29.75;VQSLOD=8.5103;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4432,358,0 16 66420885 66420885 C T exonic CDH5 synonymous SNV CDH5:NM_001795:exon3:c.C384T:p.G128G 0.62 0.56 0.7 0.82 0.51 0.56 0.5835 0.5577 0.8075 0.8029 0.5565 0.5234 0.5738 0.5823 0.54 0.56 0.53 0.65 0.57 rs1130844 COSM5019127 11(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5907 0.5588 0.7784 0.5317 0.7994 0.5506 0.5233 0.5591 0.5827 0.5564 0.5591 0.7218 0.5662 0.8058 0.5333 0.5247 0.5449 het 1011.36 103 16 66420885 . C T 1011.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.424;DP=103;Dels=0.00;FS=2.837;HRun=0;HaplotypeScore=0.6651;MQ=59.35;MQ0=0;MQRankSum=1.758;QD=9.82;ReadPosRankSum=-1.499;VQSLOD=5.8547;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,39:103:99:1041,0,1611 16 66432423 66432423 T C exonic CDH5 nonsynonymous SNV CDH5:NM_001795:exon10:c.T1550C:p.I517T 0.74 0.75 0.83 0.82 0.69 0.66 0.7208 0.7415 0.8874 0.8061 0.6691 0.6917 0.7190 0.6849 0.58 0.62 0.56 0.3 0.69 rs1049970 COSM1128913 1(urinary_tract);13(soft_tissue);2(prostate) . . . . . . . . . . . 0.105 0.298 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.588 P -0.425 0.029 N 0.26 0.593 T 2.25 0.003 N 0.015 0.002 -0.995 0.314 T 0.000 0.000 T . . . 1.074 0.197 11.08 0.936 0.229 0.088 0.145 N c -0.775 -0.585 0.782 0.238 0.672 0.522 0 3.99 0.454 2.098 0.411 0.069 0.176 1.000 0.715 0.007 0.100 7.395 0.259 Cadherin|Cadherin-like ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1|ENSG00000246898.1 Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Whole_Blood 0.7248 0.7418 0.8680 0.7065 0.8014 0.6690 0.6911 0.7185 0.6867 0.7092 0.7309 0.8317 0.7219 0.8004 0.6501 0.6939 0.7035 het 1880.79 136 16 66432423 . T C 1880.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.583;DP=136;Dels=0.00;FS=1.380;HRun=1;HaplotypeScore=4.2539;MQ=55.75;MQ0=0;MQRankSum=-0.774;QD=13.83;ReadPosRankSum=-0.887;VQSLOD=2.5477;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,72:136:99:1911,0,1605 16 66432424 66432424 C T exonic CDH5 synonymous SNV CDH5:NM_001795:exon10:c.C1551T:p.I517I 0.42 0.4 0.44 0.55 0.37 0.33 0.3897 0.3959 0.4628 0.5217 0.4225 0.3646 0.4137 0.3522 0.016 0.022 0.013 . 0.35 rs3826229 COSM1378765 2(haematopoietic_and_lymphoid_tissue);3(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3921 0.3945 0.4551 0.4095 0.5198 0.4099 0.3571 0.3959 0.3589 0.3834 0.3840 0.4308 0.3775 0.5031 0.4058 0.3618 0.3924 het 1824.93 135 16 66432424 . C T 1824.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.031;DP=135;Dels=0.00;FS=0.659;HRun=2;HaplotypeScore=3.5199;MQ=55.53;MQ0=0;MQRankSum=-0.973;QD=13.52;ReadPosRankSum=-0.646;VQSLOD=2.2570;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,72:135:99:1855,0,1680 16 66599890 66599890 G A exonic CKLF synonymous SNV CKLF:NM_016326:exon2:c.G180A:p.V60V,CKLF:NM_181640:exon3:c.G276A:p.V92V,CKLF:NM_181641:exon3:c.G339A:p.V113V,CKLF:NM_016951:exon4:c.G435A:p.V145V 0.0032 0.0008 0.0014 . 0.014 . 0.0070 0.0013 0.0023 0 0.0184 0.0100 0.0066 0.0009 0.0066 0.0018 0.0091 . 0.0082 rs2232729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0069 0.0011 0.0027 0.0010 0 0.0185 0.0099 0.0075 0.0011 0.0093 0.0022 0.0036 0 0 0.0202 0.0125 0.0083 het 435.79 43 16 66599890 . G A 435.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.741;DP=43;Dels=0.00;FS=3.249;HRun=0;HaplotypeScore=0.0000;MQ=58.58;MQ0=0;MQRankSum=-0.743;QD=10.13;ReadPosRankSum=0.231;VQSLOD=4.7586;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,17:43:99:466,0,681 16 66600479 66600479 G A exonic CMTM1 synonymous SNV CMTM1:NM_052999:exon1:c.G63A:p.P21P,CMTM1:NM_181268:exon1:c.G63A:p.P21P,CMTM1:NM_181269:exon1:c.G63A:p.P21P,CMTM1:NM_181270:exon1:c.G63A:p.P21P,CMTM1:NM_181271:exon1:c.G63A:p.P21P,CMTM1:NM_181272:exon1:c.G63A:p.P21P,CMTM1:NM_181283:exon1:c.G63A:p.P21P,CMTM1:NM_181296:exon1:c.G63A:p.P21P 0.32 0.56 0.27 0.3 0.14 0.24 0.2071 0.5233 0.3520 0.3038 0.1038 0.1254 0.1962 0.2269 0.25 0.52 0.12 0.3 0.098 rs7193473 COSM3754976;COSM5828424;COSM3754975 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2025 0.5270 0.3375 0.1220 0.3021 0.1059 0.1220 0.1820 0.2288 0.2443 0.5288 0.3115 0.1523 0.2895 0.0963 0.1131 0.15 het 1745.04 138 16 66600479 . G A 1745.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.232;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2248;MQ=59.50;MQ0=0;MQRankSum=-0.060;QD=12.65;ReadPosRankSum=-0.569;VQSLOD=6.0324;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,63:138:99:1775,0,1886 16 66614008 66614008 T C exonic CMTM2 nonsynonymous SNV CMTM2:NM_144673:exon2:c.T365C:p.I122T 0.24 0.27 0.24 0.3 0.13 0.23 0.1799 0.2624 0.3434 0.3035 0.0992 0.1190 0.1751 0.2275 0.17 0.27 0.11 0.25 0.098 rs2290182 COSM4415170 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.026 0.469 D 0.058 0.215 B 0.063 0.256 B 0.057 0.021 N 1 0.090 P 1.32 0.331 L 1.43 0.330 T -1.97 0.456 N 0.073 0.062 -1.023 0.226 T 0.000 0.000 T . . . 0.382 0.131 6.460 0.992 0.540 0.102 0.156 N c -0.716 -0.739 1.000 0.480 0.598 0.340 0 3.42 0.381 3.016 0.490 1.061 0.807 0.016 0.191 0.013 0.120 6.694 0.222 Marvel domain ENSG00000172824.10|ENSG00000261656.1|ENSG00000166548.11|ENSG00000166548.11|ENSG00000260851.2|ENSG00000261656.1|ENSG00000166548.11|ENSG00000261656.1|ENSG00000166548.11|ENSG00000260851.2|ENSG00000260851.2|ENSG00000140931.15|ENSG00000261656.1|ENSG00000166548.11 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.1803 0.2617 0.3242 0.1080 0.3020 0.1006 0.1162 0.1682 0.2303 0.1644 0.2621 0.2936 0.1333 0.2809 0.0916 0.1078 0.1286 hom 7607.30 229 16 66614008 . T C 7607.30 Mask AC=2;AF=1.00;AN=2;DP=229;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2463;MQ=59.19;MQ0=0;QD=33.22;VQSLOD=8.7778;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:7607,593,0 16 66948130 66948130 G A exonic CDH16 nonsynonymous SNV CDH16:NM_001204746:exon6:c.C478T:p.H160Y,CDH16:NM_001204744:exon7:c.C769T:p.H257Y,CDH16:NM_001204745:exon7:c.C769T:p.H257Y,CDH16:NM_004062:exon7:c.C769T:p.H257Y 0.074 0.023 0.072 0.2 0.04 0.047 0.0588 0.0295 0.1486 0.1994 0.0288 0.0350 0.0563 0.0485 0.03 0.029 0.03 0.065 0.0082 rs2271023 COSM4415376 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.12 0.310 T 0.478 0.348 P 0.134 0.315 B 0.472 0.123 N 1 0.090 P 0.525 0.136 N 0.5 0.568 T -1.21 0.307 N 0.085 0.346 -1.068 0.098 T 0.000 0.000 T . . . -1.216 0.025 0.006 0.958 0.273 0.374 0.255 N c -0.737 -0.738 0.925 0.268 0.497 0.185 0 1.03 0.191 0.631 0.241 0.079 0.188 0.948 0.327 0.220 0.222 3.008 0.056 Cadherin;Cadherin|Cadherin-like ENSG00000102890.10|ENSG00000125122.10 Adipose_Subcutaneous|Lung 0.0614 0.0289 0.1377 0.0313 0.2044 0.0289 0.0337 0.0501 0.0491 0.0409 0.0280 0.1158 0.0265 0.2 0.0252 0.0305 0.0499 het 1351.76 102 16 66948130 . G A 1351.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.710;DP=102;Dels=0.00;FS=0.795;HRun=0;HaplotypeScore=1.5773;MQ=58.95;MQ0=0;MQRankSum=0.955;QD=13.25;ReadPosRankSum=-0.493;VQSLOD=6.6390;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,53:102:99:1382,0,1308 16 67691668 67691668 A G exonic ACD nonsynonymous SNV ACD:NM_001082486:exon11:c.T1553C:p.V518A,ACD:NM_001082487:exon11:c.T1505C:p.V502A,ACD:NM_022914:exon11:c.T1544C:p.V515A 0.57 0.97 0.48 0.16 0.53 0.57 0.5155 0.9001 0.4231 0.1551 0.5205 0.5022 0.5397 0.5771 0.62 0.88 0.49 0.67 0.54 rs6979 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.885 0.087 N 1.000 0.186 P -0.895 0.014 N 1.58 0.291 T 1.74 0.006 N 0.019 0.004 -1.020 0.238 T 0.000 0.000 T . . . 0.620 0.153 8.297 0.771 0.114 0.007 0.029 N c -1.134 -0.961 1.000 0.462 0.707 0.730 0 1.6 0.226 -0.091 0.110 -0.283 0.084 0.145 0.234 0.994 0.587 7.139 0.246 . ENSG00000072736.14|ENSG00000132600.12|ENSG00000132600.12|ENSG00000072736.14|ENSG00000132600.12|ENSG00000132600.12|ENSG00000072736.14|ENSG00000132600.12|ENSG00000132600.12|ENSG00000102890.10|ENSG00000102890.10|ENSG00000132600.12|ENSG00000132600.12|ENSG00000167264.13|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000072736.14|ENSG00000132600.12|ENSG00000141098.8|ENSG00000072736.14|ENSG00000132600.12|ENSG00000167264.13|ENSG00000072736.14|ENSG00000132600.12|ENSG00000132600.12|ENSG00000072736.14|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000072736.14|ENSG00000132600.12|ENSG00000132600.12|ENSG00000072736.14|ENSG00000103064.9|ENSG00000132600.12|ENSG00000132600.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Thyroid|Thyroid|Thyroid|Vagina 0.5018 0.9016 0.4334 0.5520 0.1505 0.5135 0.4934 0.5261 0.5760 0.5901 0.8950 0.5012 0.5828 0.1611 0.5266 0.4823 0.5306 het 1208.25 90 16 67691668 . A G 1208.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.512;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.59;MQ0=0;MQRankSum=0.654;QD=13.42;ReadPosRankSum=-1.428;VQSLOD=6.4389;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,45:90:99:1238,0,1132 16 68025801 68025801 G C exonic DPEP2 nonsynonymous SNV DPEP2:NM_001324159:exon3:c.C128G:p.P43R,DPEP2:NM_022355:exon5:c.C602G:p.P201R 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1 1 0.9999 . . . 1. 1. rs255051 COSM4590955 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 hom 3629.42 119 16 68025801 . G C 3629.42 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5707;MQ=60.00;MQ0=0;QD=30.50;VQSLOD=7.7071;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3629,298,0 16 68055495 68055495 G C exonic DDX28 synonymous SNV DDX28:NM_018380:exon1:c.C1611G:p.P537P 0.19 0.31 0.18 0.1 0.15 0.17 0.1684 0.2844 0.1750 0.1140 0.1702 0.1447 0.1716 0.2157 0.19 0.29 0.14 0.29 0.098 rs13816 COSM148094 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1624 0.2817 0.1658 0.1710 0.1126 0.1728 0.1393 0.1609 0.2013 0.1877 0.2844 0.1969 0.1722 0.1027 0.1817 0.1416 0.1906 het 551.58 63 16 68055495 . G C 551.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.253;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=59.11;MQ0=0;MQRankSum=0.262;QD=8.76;ReadPosRankSum=-0.460;VQSLOD=5.9213;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,24:63:99:582,0,1199 16 68057096 68057096 T C exonic DDX28 nonsynonymous SNV DDX28:NM_018380:exon1:c.A10G:p.T4A 0.97 1. 0.95 1. 0.92 0.98 0.9424 0.9873 0.9708 0.9996 0.9300 0.9169 0.9442 0.9700 0.95 0.99 0.93 0.98 0.88 rs237831 COSM3754989 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.030 0.017 N 1.000 0.195 P -1.95 0.002 N 4.15 0.028 T 0.24 0.045 N 0.042 0.022 -0.949 0.412 T 0.000 0.000 T . . . -3.644 0.000 0.001 0.440 0.033 0.001 0.007 N c -2.518 -2.490 1.0 0.983 0.267 0.040 1 -5.55 0.023 -2.425 0.011 -4.634 0.000 0.000 0.063 0.000 0.016 0.221 0.002 . ENSG00000135723.9|ENSG00000135723.9 Nerve_Tibial|Whole_Blood 0.9411 0.9878 0.9651 0.9368 0.9993 0.9250 0.9138 0.9287 0.9707 0.9350 0.9838 0.9475 0.9470 1 0.9239 0.9030 0.9082 het 426.19 37 16 68057096 . T C 426.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.989;DP=37;Dels=0.00;FS=1.316;HRun=0;HaplotypeScore=2.7518;MQ=59.50;MQ0=0;MQRankSum=0.199;QD=11.52;ReadPosRankSum=-0.843;VQSLOD=6.5970;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,16:37:99:456,0,537 16 68088485 68088485 A G exonic DUS2 synonymous SNV DUS2:NM_001271762:exon5:c.A273G:p.S91S,DUS2:NM_017803:exon6:c.A273G:p.S91S 0.12 0.064 0.16 0.099 0.14 0.18 0.1469 0.0865 0.1641 0.1152 0.1709 0.1398 0.1498 0.2086 0.12 0.096 0.14 0.11 0.11 rs11555011 COSM3754990 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1470 0.0859 0.1537 0.1597 0.1140 0.1750 0.1359 0.1482 0.2046 0.1290 0.0846 0.1778 0.1589 0.1027 0.1828 0.1388 0.1735 het 1410.50 139 16 68088485 . A G 1410.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.239;DP=139;Dels=0.00;FS=2.255;HRun=1;HaplotypeScore=4.8865;MQ=59.46;MQ0=0;MQRankSum=0.326;QD=10.15;ReadPosRankSum=-2.469;VQSLOD=4.0907;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,58:139:99:1440,0,2096 16 68293320 68293320 T C exonic PLA2G15 synonymous SNV PLA2G15:NM_012320:exon6:c.T999C:p.G333G 0.22 0.36 0.2 0.1 0.17 0.2 0.1952 0.3168 0.1990 0.1164 0.1876 0.1766 0.1954 0.2357 0.22 0.32 0.17 0.33 0.21 rs3743739 COSM1128902 1(breast);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1912 0.3170 0.1909 0.2370 0.1150 0.1856 0.1712 0.1993 0.2326 0.2120 0.3260 0.2206 0.2417 0.1002 0.1872 0.1625 0.2112 het 1713.70 139 16 68293320 . T C 1713.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.044;DP=139;Dels=0.00;FS=3.091;HRun=0;HaplotypeScore=1.8316;MQ=59.70;MQ0=0;MQRankSum=1.460;QD=12.33;ReadPosRankSum=-0.002;VQSLOD=6.4196;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,64:139:99:1744,0,1934 16 68344696 68344696 C T exonic SLC7A6OS nonsynonymous SNV SLC7A6OS:NM_032178:exon1:c.G134A:p.G45D 0.67 0.77 0.68 0.77 0.54 0.54 0.6096 0.7547 0.7177 0.7772 0.5228 0.5764 0.5578 0.5259 0.64 0.74 0.58 0.72 0.61 rs3803650 COSM435576 1(pancreas) . . . . . . . . . . . 0.725 0.039 T 0.002 0.090 B 0.006 0.112 B 0.475 0.122 N 1 0.090 P 1.73 0.448 L 2.24 0.179 T 0.02 0.068 N 0.016 0.333 -0.995 0.313 T 0.000 0.000 T . . . -0.825 0.039 0.038 0.929 0.219 0.205 0.208 N c -1.280 -1.345 1.000 0.747 0.442 0.072 0 -5.34 0.025 -0.604 0.057 -2.382 0.003 0.000 0.063 0.000 0.016 7.512 0.266 . ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000072736.14|ENSG00000132600.12|ENSG00000132600.12|ENSG00000072736.14|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000167264.13|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000103064.9|ENSG00000132600.12|ENSG00000132600.12|ENSG00000072736.14|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000103066.8|ENSG00000132600.12|ENSG00000132600.12|ENSG00000132600.12|ENSG00000072736.14|ENSG00000103064.9|ENSG00000103066.8|ENSG00000132600.12|ENSG00000103064.9|ENSG00000132600.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6101 0.7578 0.7113 0.5308 0.7781 0.5276 0.5816 0.5909 0.5245 0.6418 0.7595 0.6603 0.5233 0.7756 0.5201 0.5929 0.5736 het 1344.48 115 16 68344696 . C T 1344.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.722;DP=115;Dels=0.00;FS=9.129;HRun=0;HaplotypeScore=2.4078;MQ=57.94;MQ0=0;MQRankSum=1.519;QD=11.69;ReadPosRankSum=0.554;VQSLOD=4.4495;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,57:115:99:1374,0,1501 16 68387373 68387373 C T exonic PRMT7 synonymous SNV PRMT7:NM_001351144:exon16:c.C1557T:p.D519D 0.56 0.44 0.61 0.77 0.5 0.51 0.5444 0.4686 0.6849 0.7825 0.4759 0.5172 0.5067 0.5070 0.51 0.47 0.53 0.47 0.48 rs1562479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5492 0.4650 0.6741 0.3844 0.7852 0.4857 0.5284 0.5217 0.5055 0.5236 0.4617 0.6041 0.4040 0.7880 0.4750 0.5411 0.5092 het 838.97 65 16 68387373 . C T 838.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.686;DP=65;Dels=0.00;FS=10.322;HRun=0;HaplotypeScore=2.0641;MQ=59.65;MQ0=0;MQRankSum=-2.267;QD=12.91;ReadPosRankSum=-0.846;VQSLOD=2.6004;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,37:65:99:869,0,826 16 68387457 68387457 C T exonic PRMT7 synonymous SNV PRMT7:NM_001184824:exon14:c.C1488T:p.D496D,PRMT7:NM_001290018:exon16:c.C1638T:p.D546D,PRMT7:NM_001351143:exon16:c.C1638T:p.D546D,PRMT7:NM_001351144:exon16:c.C1641T:p.D547D,PRMT7:NM_019023:exon16:c.C1638T:p.D546D 0.13 0.18 0.089 0.082 0.13 0.16 0.1273 0.1719 0.0700 0.0741 0.1709 0.1211 0.1451 0.1780 0.14 0.17 0.12 0.076 0.15 rs61746794 COSM3754994 1(breast);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1254 0.1708 0.0721 0.1523 0.0737 0.1701 0.1181 0.1222 0.1688 0.1372 0.1673 0.0983 0.1556 0.0715 0.1772 0.1182 0.1524 het 1359.04 116 16 68387457 . C T 1359.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.842;DP=116;Dels=0.00;FS=7.525;HRun=0;HaplotypeScore=2.8972;MQ=59.10;MQ0=0;MQRankSum=0.335;QD=11.72;ReadPosRankSum=1.286;VQSLOD=4.5993;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,51:116:99:1389,0,1607 16 68398924 68398924 C T exonic SMPD3 synonymous SNV SMPD3:NM_018667:exon4:c.G1395A:p.P465P 0.63 0.67 0.67 0.77 0.53 0.52 0.5964 0.6557 0.7134 0.7812 0.5275 0.5686 0.5554 0.5222 0.6 0.65 0.58 0.65 0.55 rs1868158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5987 0.6568 0.7047 0.4526 0.7840 0.5323 0.5783 0.5794 0.5221 0.6105 0.6537 0.6495 0.4603 0.7878 0.5241 0.5899 0.5714 het 857.16 67 16 68398924 . C T 857.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.885;DP=67;Dels=0.00;FS=2.044;HRun=0;HaplotypeScore=1.9963;MQ=58.43;MQ0=0;MQRankSum=0.435;QD=12.79;ReadPosRankSum=0.448;VQSLOD=6.1318;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,37:67:99:887,0,804 16 68598007 68598007 A G exonic ZFP90 synonymous SNV ZFP90:NM_001305203:exon5:c.A1317G:p.Q439Q,ZFP90:NM_133458:exon5:c.A1317G:p.Q439Q 0.53 0.19 0.62 0.77 0.57 0.64 0.5975 0.2539 0.6141 0.7584 0.6320 0.6021 0.6105 0.6720 0.49 0.26 0.6 0.43 0.6 rs1177648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6034 0.2494 0.6077 0.5799 0.7578 0.6300 0.6048 0.6018 0.6717 0.5236 0.2559 0.5668 0.5762 0.7767 0.6471 0.6139 0.6112 hom 4166.85 125 16 68598007 . A G 4166.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.483;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.6410;MQ=58.62;MQ0=0;MQRankSum=1.704;QD=33.33;ReadPosRankSum=1.289;VQSLOD=5.8559;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,124:125:99:4134,293,0 16 68713730 68713730 G A exonic CDH3 synonymous SNV CDH3:NM_001317196:exon6:c.G555A:p.T185T,CDH3:NM_001317195:exon7:c.G720A:p.T240T,CDH3:NM_001793:exon7:c.G720A:p.T240T 0.61 0.67 0.55 0.61 0.62 0.55 0.5940 0.6766 0.4596 0.6134 0.6073 0.6132 0.6222 0.5414 0.64 0.67 0.62 0.69 0.61 rs2296409 COSM3754998;COSM3754999 1(large_intestine) Benign EEM_syndrome RCV000299306.1 MedGen:OMIM:Orphanet C1857041:225280:ORPHA1897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5888 0.6744 0.4711 0.5816 0.6090 0.6062 0.6187 0.5948 0.5434 0.6300 0.6801 0.4844 0.5604 0.6008 0.6037 0.6205 0.6183 hom 5335.09 174 16 68713730 . G A 5335.09 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9559;MQ=59.12;MQ0=0;QD=30.66;VQSLOD=9.0127;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:174:99:5335,412,0 16 68713823 68713823 C A exonic CDH3 synonymous SNV CDH3:NM_001317196:exon6:c.C648A:p.T216T,CDH3:NM_001317195:exon7:c.C813A:p.T271T,CDH3:NM_001793:exon7:c.C813A:p.T271T 0.61 0.67 0.55 0.61 0.62 0.55 0.5940 0.6765 0.4591 0.6132 0.6072 0.6133 0.6233 0.5412 0.64 0.67 0.62 0.69 0.62 rs2296408 COSM3755000;COSM3755001 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign EEM_syndrome RCV000259290.1 MedGen:OMIM:Orphanet C1857041:225280:ORPHA1897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5886 0.6744 0.4703 0.5815 0.6088 0.6056 0.6187 0.5946 0.5432 0.6296 0.6792 0.4845 0.5530 0.5991 0.6025 0.6209 0.6170 hom 6969.07 223 16 68713823 . C A 6969.07 Mask AC=2;AF=1.00;AN=2;DP=223;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7878;MQ=59.53;MQ0=0;QD=31.25;VQSLOD=9.0316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,223:223:99:6968,542,0 16 68719113 68719113 G A exonic CDH3 nonsynonymous SNV CDH3:NM_001317196:exon10:c.G1265A:p.R422H,CDH3:NM_001317195:exon11:c.G1430A:p.R477H,CDH3:NM_001793:exon11:c.G1430A:p.R477H 0.026 0.0023 0.017 . 0.06 0.056 0.0550 0.0104 0.0126 0.0012 0.0824 0.0724 0.0607 0.0594 0.055 0.015 0.075 0.033 0.033 rs34494880 COSM5505903;COSM5505902 1(biliary_tract) Likely benign EEM_syndrome RCV000352422.1 MedGen:OMIM:Orphanet C1857041:225280:ORPHA1897 . . . . . . 0.279 0.219 T 0.007 0.131 B 0.008 0.127 B 0.843 0.090 N 0.994 0.236 N 1.705 0.444 L 0.61 0.535 T -1.91 0.463 N 0.028 0.025 -1.050 0.142 T 0.007 0.023 T . . . 1.671 0.262 14.24 0.967 0.303 0.063 0.121 N c -0.947 -0.854 0.019 0.131 0.672 0.522 0 0.567 0.164 -1.053 0.036 -0.727 0.036 0.000 0.063 0.921 0.396 0.912 0.012 Cadherin|Cadherin-like ENSG00000157315.4 Pancreas 0.0552 0.0105 0.0143 0.0777 0.0003 0.0831 0.0735 0.0460 0.0604 0.0508 0.0127 0.0155 0.0662 0 0.0892 0.0702 0.0662 het 1500.35 122 16 68719113 . G A 1500.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.571;DP=122;Dels=0.00;FS=0.706;HRun=0;HaplotypeScore=2.4959;MQ=59.47;MQ0=0;MQRankSum=-0.309;QD=12.30;ReadPosRankSum=-0.231;VQSLOD=6.3941;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,63:122:99:1530,0,1431 16 68721470 68721470 T C exonic CDH3 synonymous SNV CDH3:NM_001317196:exon11:c.T1461C:p.N487N,CDH3:NM_001317195:exon12:c.T1626C:p.N542N,CDH3:NM_001793:exon12:c.T1626C:p.N542N 0.6 0.67 0.55 0.55 0.62 0.57 0.5881 0.6751 0.4586 0.5506 0.6061 0.6078 0.6145 0.5555 0.64 0.67 0.62 0.69 0.61 rs2296405 COSM3755003;COSM3755002 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign EEM_syndrome RCV000336277.1 MedGen:OMIM:Orphanet C1857041:225280:ORPHA1897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5824 0.6726 0.4697 0.5801 0.5423 0.6045 0.6125 0.5893 0.5575 0.6213 0.6763 0.4844 0.5530 0.5305 0.6017 0.6133 0.6135 hom 6431.67 198 16 68721470 . T C 6431.67 Mask AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1095;MQ=59.37;MQ0=0;QD=32.48;VQSLOD=6.5452;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,198:198:99:6431,524,0 16 68721533 68721533 G C exonic CDH3 nonsynonymous SNV CDH3:NM_001317196:exon11:c.G1524C:p.Q508H,CDH3:NM_001317195:exon12:c.G1689C:p.Q563H,CDH3:NM_001793:exon12:c.G1689C:p.Q563H 0.31 0.024 0.4 0.51 0.4 0.33 0.3658 0.0790 0.3373 0.4965 0.4008 0.4004 0.3982 0.3423 0.31 0.09 0.42 0.3 0.34 rs1126933 COSM3755004;COSM3755005 1(haematopoietic_and_lymphoid_tissue);1(pancreas);2(prostate);1(large_intestine) Benign EEM_syndrome RCV000305316.1 MedGen:OMIM:Orphanet C1857041:225280:ORPHA1897 . . . . . . 0.326 0.168 T 0.029 0.185 B 0.008 0.127 B 0.001 0.393 N 0.051 0.376 P 1.535 0.390 L 0.13 0.610 T -1.81 0.425 N 0.27 0.363 -0.919 0.457 T 0.000 0.000 T . . . 1.922 0.292 15.72 0.677 0.082 0.105 0.158 N c -1.177 -1.181 0.065 0.154 0.672 0.522 0 -3.29 0.047 -0.134 0.103 -0.165 0.106 0.001 0.137 0.342 0.244 7.683 0.275 Cadherin|Cadherin-like ENSG00000184939.11 Whole_Blood 0.3731 0.0769 0.3445 0.3720 0.4910 0.3979 0.4075 0.3678 0.3444 0.3202 0.0879 0.3246 0.3444 0.4825 0.3989 0.4140 0.3980 hom 7249.61 231 16 68721533 . G C 7249.61 Mask AC=2;AF=1.00;AN=2;DP=231;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6837;MQ=59.40;MQ0=0;QD=31.38;VQSLOD=9.0783;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,231:231:99:7248,593,0 16 68725783 68725783 G A exonic CDH3 synonymous SNV CDH3:NM_001317196:exon12:c.G1791A:p.K597K,CDH3:NM_001317195:exon13:c.G1956A:p.K652K,CDH3:NM_001793:exon13:c.G1956A:p.K652K 0.57 0.65 0.55 0.47 0.62 0.56 0.5786 0.6491 0.4549 0.4981 0.6047 0.6029 0.6062 0.5525 0.63 0.64 0.62 0.65 0.6 rs2274239 COSM3755007;COSM3755006 3(large_intestine) Benign EEM_syndrome RCV000268784.1 MedGen:OMIM:Orphanet C1857041:225280:ORPHA1897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5732 0.6470 0.4656 0.5749 0.4862 0.6032 0.6076 0.5823 0.5543 0.6079 0.6475 0.4821 0.5497 0.4701 0.5997 0.6092 0.6143 hom 4926.96 148 16 68725783 . G A 4926.96 Mask AC=2;AF=1.00;AN=2;DP=148;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.2842;MQ=59.87;MQ0=0;QD=33.29;VQSLOD=8.4166;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:148:99:4927,379,0 16 68729785 68729785 C A exonic CDH3 synonymous SNV CDH3:NM_001317196:exon14:c.C2074A:p.R692R,CDH3:NM_001317195:exon15:c.C2239A:p.R747R,CDH3:NM_001793:exon15:c.C2239A:p.R747R 0.47 0.29 0.5 0.47 0.58 0.56 0.5330 0.3131 0.4328 0.4978 0.5933 0.5811 0.5811 0.5388 0.5 0.32 0.6 0.51 0.6 rs17715450 COSM3755009;COSM3755008 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign not_specified|EEM_syndrome RCV000079721.4|RCV000277967.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1857041:225280:ORPHA1897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5337 0.3056 0.4389 0.5541 0.4861 0.5933 0.5844 0.5518 0.5404 0.4969 0.3064 0.4427 0.5265 0.4714 0.5883 0.5870 0.5695 hom 3821.59 119 16 68729785 . C A 3821.59 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.703;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0731;MQ=59.30;MQ0=0;MQRankSum=-1.150;QD=32.11;ReadPosRankSum=-0.888;VQSLOD=9.2362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,118:119:99:3821,304,0 16 68857441 68857441 T C exonic CDH1 synonymous SNV CDH1:NM_001317184:exon12:c.T1893C:p.A631A,CDH1:NM_001317186:exon12:c.T111C:p.A37A,CDH1:NM_001317185:exon13:c.T528C:p.A176A,CDH1:NM_004360:exon13:c.T2076C:p.A692A 0.72 0.94 0.58 0.64 0.65 0.67 0.6548 0.8860 0.6704 0.6399 0.5823 0.6241 0.6167 0.6614 0.72 0.88 0.63 0.75 0.63 rs1801552 COSM3755010 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_diffuse_gastric_cancer RCV000132164.2|RCV000246442.1|RCV000293455.1 MedGen:SNOMED_CT|MedGen|MedGen:OMIM:Orphanet C0027672:699346009|CN169374|C1708349:137215:ORPHA26106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6500 0.8921 0.6663 0.6292 0.6486 0.5922 0.6246 0.6464 0.6539 0.6961 0.8838 0.6615 0.5927 0.6658 0.5878 0.6235 0.6365 het 1487.45 141 16 68857441 . T C 1487.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.330;DP=141;Dels=0.00;FS=0.669;HRun=1;HaplotypeScore=2.7223;MQ=59.20;MQ0=0;MQRankSum=1.800;QD=10.55;ReadPosRankSum=0.871;VQSLOD=6.2071;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,64:141:99:1517,0,1970 16 69177268 69177268 C T exonic UTP4 synonymous SNV UTP4:NM_001318391:exon6:c.C465T:p.D155D,UTP4:NM_032830:exon6:c.C714T:p.D238D 0.043 0.038 0.052 0.015 0.046 0.072 0.0494 0.0429 0.0520 0.0168 0.0359 0.0504 0.0541 0.0703 0.052 0.047 0.055 0.022 0.041 rs2288036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0490 0.0465 0.0505 0.0306 0.0159 0.0327 0.0521 0.0542 0.0730 0.0425 0.0431 0.0525 0.0397 0.0117 0.0355 0.0462 0.0501 het 1532.62 113 16 69177268 . C T 1532.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.382;DP=113;Dels=0.00;FS=1.709;HRun=0;HaplotypeScore=1.8300;MQ=59.20;MQ0=0;MQRankSum=-1.261;QD=13.56;ReadPosRankSum=0.504;VQSLOD=6.2416;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,58:113:99:1563,0,1381 16 69304048 69304048 A G exonic SNTB2 synonymous SNV SNTB2:NM_006750:exon4:c.A1008G:p.A336A 0.017 0.0015 0.04 . 0.034 0.019 0.0313 0.0080 0.0439 0.0003 0.0343 0.0391 0.0374 0.0199 0.027 0.0089 0.036 0.011 0.082 rs1136042 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0312 0.0075 0.0447 0.0194 0.0009 0.0301 0.0385 0.0416 0.0214 0.0246 0.0068 0.0394 0.0132 0.0012 0.0323 0.0344 0.0346 het 2564.29 250 16 69304048 . A G 2564.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.087;DP=250;DS;Dels=0.00;FS=0.483;HRun=0;HaplotypeScore=1.9862;MQ=59.74;MQ0=0;MQRankSum=-1.211;QD=10.26;ReadPosRankSum=0.442;VQSLOD=5.7842;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:2594,0,3567 16 69354963 69354963 A G exonic VPS4A synonymous SNV VPS4A:NM_013245:exon9:c.A861G:p.K287K 0.27 0.37 0.21 0.083 0.29 0.35 0.3944 0.4523 0.3312 0.2036 0.3417 0.4130 0.3417 0.3959 0.34 0.38 0.31 0.26 . rs1127231 COSM3755014 1(bone);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2733 0.3723 0.1847 0.2525 0.0924 0.2508 0.3012 0.2873 0.3627 0.3137 0.3806 0.2273 0.3079 0.0903 0.2603 0.3173 0.2973 het 253.93 15 16 69354963 . A G 253.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.766;DP=15;Dels=0.00;FS=5.426;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-1.120;QD=16.93;ReadPosRankSum=1.355;VQSLOD=5.0865;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,9:15:99:284,0,152 16 69373414 69373414 T C exonic COG8 synonymous SNV COG8:NM_032382:exon1:c.A42G:p.T14T 0.26 0.32 0.22 0.083 0.29 0.35 0.2968 0.3621 0.1686 0.1004 0.2867 0.3174 0.3017 0.3757 0.32 0.34 0.32 0.24 0.34 rs11542583 COSM4129245 1(thyroid) Benign|Likely benign not_specified|Congenital_disorder_of_glycosylation RCV000082299.5|RCV000338035.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2810 0.3391 0.1829 0.2739 0.0965 0.2570 0.3120 0.2914 0.3696 0.3016 0.3365 0.2231 0.33 0.0907 0.2605 0.3176 0.3014 het 406.84 48 16 69373414 . T C 406.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.061;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9146;MQ=58.55;MQ0=0;MQRankSum=1.236;QD=8.48;ReadPosRankSum=-0.274;VQSLOD=5.6019;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,18:48:99:437,0,787 16 69377470 69377470 A G exonic TMED6 nonsynonymous SNV TMED6:NM_144676:exon4:c.T563C:p.M188T 0.002 . 0.0058 . 0.005 0.001 0.0026 0.0006 0.0022 0 0.0009 0.0037 0.0044 0.0019 0.0031 . 0.0047 . . rs72795291 . . . . . . . . . . . . . 0.59 0.058 T 0.0 0.026 B 0.001 0.040 B 0.098 0.200 N 1.000 0.197 N 0.85 0.213 L 2.41 0.155 T 0.64 0.024 N 0.055 0.037 -0.981 0.347 T 0.012 0.045 T 0.005 0.116 T -0.295 0.069 0.680 0.706 0.090 0.221 0.214 N c -0.959 -0.875 1.000 0.480 0.461 0.090 0 -3.38 0.045 -0.087 0.111 1.088 0.866 0.000 0.063 0.997 0.653 9.122 0.358 GOLD domain . . 0.0028 0.0010 0.0019 0.0007 0 0.0008 0.0044 0.0031 0.0022 0.0023 0.0009 0.0012 0 0 0 0.0041 0.0020 het 2119.38 196 16 69377470 . A G 2119.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.522;DP=196;Dels=0.00;FS=2.476;HRun=0;HaplotypeScore=10.3971;MQ=59.45;MQ0=0;MQRankSum=-0.104;QD=10.81;ReadPosRankSum=-1.187;VQSLOD=3.0851;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,91:196:99:2149,0,2532 16 69381769 69381769 C T exonic TMED6 synonymous SNV TMED6:NM_144676:exon3:c.G411A:p.G137G 0.076 0.13 0.069 0.026 0.055 0.08 0.0630 0.1310 0.0584 0.0170 0.0366 0.0584 0.0639 0.0770 0.088 0.14 0.063 0.098 0.098 rs16958777 COSM5420116 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0610 0.1329 0.0596 0.0478 0.0163 0.0330 0.0600 0.0655 0.0796 0.0715 0.1305 0.0586 0.0464 0.0105 0.0349 0.0544 0.0591 het 2296.18 200 16 69381769 . C T 2296.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.117;DP=200;DS;Dels=0.00;FS=1.146;HRun=0;HaplotypeScore=3.7400;MQ=59.40;MQ0=0;MQRankSum=0.571;QD=11.48;ReadPosRankSum=-0.634;VQSLOD=6.3283;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,86:200:99:2326,0,3222 16 69385641 69385641 A G exonic TMED6 nonsynonymous SNV TMED6:NM_144676:exon1:c.T16C:p.F6L 0.01 0.0015 0.01 . 0.031 0.012 0.0250 0.0065 0.0063 0 0.0443 0.0358 0.0177 0.0119 0.028 0.008 0.038 0.033 0.0082 rs76116020 . . . . . . . . . . . . . 0.423 0.097 T 0.0 0.026 B 0.0 0.013 B 0.218 0.162 N 1 0.090 N -0.55 0.024 N 1.84 0.247 T -0.33 0.125 N 0.063 0.048 -1.013 0.259 T 0.006 0.019 T . . . -1.160 0.026 0.008 0.599 0.062 0.014 0.047 N c -1.245 -1.194 1.000 0.747 0.578 0.323 0 -0.443 0.116 0.242 0.177 -0.119 0.114 0.000 0.063 0.260 0.230 2.724 0.048 . . . 0.0250 0.0056 0.0077 0.0302 5.798e-05 0.0429 0.0367 0.0233 0.0111 0.0244 0.0059 0.0048 0.0265 0 0.0415 0.0343 0.0337 het 1929.14 139 16 69385641 . A G 1929.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.040;DP=139;Dels=0.00;FS=0.837;HRun=1;HaplotypeScore=8.7825;MQ=58.73;MQ0=0;MQRankSum=1.082;QD=13.88;ReadPosRankSum=0.108;VQSLOD=4.3427;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,66:139:99:1959,0,2073 16 69752373 69752373 C T exonic NQO1 synonymous SNV NQO1:NM_000903:exon2:c.G72A:p.E24E,NQO1:NM_001025433:exon2:c.G72A:p.E24E,NQO1:NM_001025434:exon2:c.G72A:p.E24E,NQO1:NM_001286137:exon2:c.G72A:p.E24E 0.041 0.045 0.05 0.001 0.084 0.025 0.0594 0.0496 0.0305 0.0001 0.0729 0.0794 0.0728 0.0300 0.069 0.048 0.08 0.033 0.16 rs689453 COSM3755016 3(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0584 0.0482 0.0367 0.0707 5.8e-05 0.0706 0.0792 0.0641 0.0308 0.0589 0.0504 0.0513 0.0662 0 0.0633 0.0699 0.0519 het 1586.39 134 16 69752373 . C T 1586.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.859;DP=134;Dels=0.00;FS=2.258;HRun=1;HaplotypeScore=2.9019;MQ=59.72;MQ0=0;MQRankSum=-0.657;QD=11.84;ReadPosRankSum=-0.956;VQSLOD=6.1270;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,61:134:99:1616,0,2004 16 69782855 69782855 C T exonic NOB1 nonsynonymous SNV NOB1:NM_014062:exon6:c.G692A:p.R231Q 0.34 0.098 0.49 0.23 0.57 0.45 0.5178 0.1829 0.4586 0.2092 0.6185 0.6062 0.5190 0.5043 0.44 0.18 0.57 0.23 0.54 rs3811348 COSM4129247 1(thyroid) . . . . . . . . . . . 0.636 0.051 T 0.003 0.102 B 0.002 0.063 B 0.283 0.149 N 1.000 0.201 P -1.15 0.009 N 1.69 0.270 T 0.12 0.056 N 0.041 0.021 -0.968 0.377 T 0.000 0.000 T . . . 1.728 0.269 14.57 0.933 0.224 0.124 0.171 N c -0.977 -0.836 0.266 0.188 0.672 0.522 0 1.11 0.195 -0.410 0.072 0.049 0.161 0.007 0.175 0.402 0.255 4.622 0.118 . ENSG00000262136.1|ENSG00000141101.8|ENSG00000262136.1|ENSG00000141101.8|ENSG00000262136.1|ENSG00000141101.8|ENSG00000262136.1|ENSG00000141101.8|ENSG00000196696.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis 0.4956 0.1623 0.4318 0.5495 0.1809 0.5978 0.5872 0.5185 0.4836 0.4450 0.1667 0.4569 0.5993 0.1665 0.5938 0.5920 0.5501 het 490.61 38 16 69782855 . C T 490.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.478;DP=38;Dels=0.00;FS=1.675;HRun=0;HaplotypeScore=1.7608;MQ=56.08;MQ0=0;MQRankSum=0.533;QD=12.91;ReadPosRankSum=-1.813;VQSLOD=2.2592;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,17:38:99:521,0,607 16 69963355 69963355 G A exonic WWP2 synonymous SNV WWP2:NM_001270453:exon9:c.G891A:p.K297K,WWP2:NM_001270454:exon12:c.G1239A:p.K413K,WWP2:NM_007014:exon13:c.G1239A:p.K413K 0.85 0.95 0.75 0.97 0.75 0.8 0.7777 0.9053 0.8043 0.9696 0.7858 0.7325 0.7792 0.7576 0.79 0.89 0.74 0.9 0.72 rs1566452 COSM4129249 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7784 0.9050 0.8037 0.7425 0.9715 0.7944 0.7300 0.7754 0.7551 0.8080 0.9008 0.7957 0.7086 0.9722 0.7998 0.7437 0.7633 het 997.93 101 16 69963355 . G A 997.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.406;DP=101;Dels=0.00;FS=4.201;HRun=2;HaplotypeScore=3.2938;MQ=59.40;MQ0=0;MQRankSum=0.522;QD=9.88;ReadPosRankSum=-1.462;VQSLOD=5.3895;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,44:101:99:1028,0,1384 16 69967897 69967897 T C exonic WWP2 synonymous SNV WWP2:NM_199424:exon7:c.T390C:p.H130H,WWP2:NM_001270453:exon14:c.T1359C:p.H453H,WWP2:NM_001270454:exon17:c.T1707C:p.H569H,WWP2:NM_007014:exon18:c.T1707C:p.H569H 0.85 0.95 0.75 0.97 0.75 0.79 0.7761 0.9063 0.8034 0.9694 0.7738 0.7313 0.7775 0.7555 0.79 0.9 0.74 0.9 0.72 rs2270841 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7768 0.9058 0.8042 0.7432 0.9716 0.7799 0.7298 0.7753 0.7532 0.8065 0.9020 0.7967 0.7086 0.9722 0.7888 0.7432 0.7546 het 2167.97 177 16 69967897 . T C 2167.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.595;DP=177;Dels=0.00;FS=0.562;HRun=0;HaplotypeScore=3.7778;MQ=58.52;MQ0=0;MQRankSum=1.059;QD=12.25;ReadPosRankSum=-1.635;VQSLOD=5.2326;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,93:177:99:2198,0,2207 16 69970329 69970329 A G exonic WWP2 synonymous SNV WWP2:NM_199424:exon9:c.A774G:p.T258T,WWP2:NM_001270453:exon16:c.A1743G:p.T581T,WWP2:NM_001270454:exon19:c.A2091G:p.T697T,WWP2:NM_007014:exon20:c.A2091G:p.T697T 0.85 0.91 0.76 0.97 0.75 0.8 0.7753 0.8738 0.8039 0.9684 0.7696 0.7319 0.7765 0.7699 0.78 0.86 0.74 0.9 0.72 rs1983016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7776 0.8727 0.8045 0.7878 0.9704 0.7764 0.7287 0.7776 0.7677 0.7967 0.8717 0.7983 0.7649 0.9697 0.7851 0.7403 0.7531 het 966.65 91 16 69970329 . A G 966.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.412;DP=91;Dels=0.00;FS=0.885;HRun=1;HaplotypeScore=2.4476;MQ=59.03;MQ0=0;MQRankSum=-0.473;QD=10.62;ReadPosRankSum=-1.184;VQSLOD=6.2619;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,37:91:99:997,0,1443 16 70164334 70164334 A G exonic PDPR nonsynonymous SNV PDPR:NM_001322118:exon5:c.A316G:p.I106V,PDPR:NM_001322117:exon7:c.A616G:p.I206V,PDPR:NM_017990:exon7:c.A616G:p.I206V . . . . . . 0.4008 0.4019 0.3283 0.2564 0.4569 0.4346 0.4048 0.3612 . . . 0.23 . rs10852462 COSM148098 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(pancreas);1(prostate);3(thyroid);20(upper_aerodigestive_tract);3(large_intestine);5(central_nervous_system) . . . . . . . . . . . 0.62 0.063 T 0.071 0.224 B 0.074 0.267 B 0.000 0.843 D 1.000 0.588 D 1.065 0.271 L -1.51 0.814 D -0.31 0.121 N 0.113 0.137 -1.042 0.167 T 0.000 0.000 T . . . 1.435 0.235 12.97 0.971 0.317 0.951 0.631 D c -0.168 0.042 0.013 0.124 0.707 0.730 0 4.93 0.643 5.822 0.687 1.001 0.622 1.000 0.715 1.000 0.888 8.479 0.320 FAD dependent oxidoreductase|FAD/NAD(P)-binding domain . . 0.3858 0.3891 0.3084 0.3975 0.2357 0.4494 0.4269 0.3974 0.3514 0.4092 0.3943 0.3193 0.3953 0.2307 0.4483 0.4319 0.4295 het 557.71 62 16 70164334 . A G 557.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.759;DP=62;Dels=0.00;FS=1.153;HRun=1;HaplotypeScore=0.9832;MQ=56.67;MQ0=0;MQRankSum=1.155;QD=9.00;ReadPosRankSum=0.390;VQSLOD=3.3613;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,22:62:99:588,0,1153 16 70190401 70190401 C T exonic PDPR synonymous SNV PDPR:NM_001322118:exon17:c.C1959T:p.D653D,PDPR:NM_001322119:exon17:c.C1053T:p.D351D,PDPR:NM_001322117:exon19:c.C2259T:p.D753D,PDPR:NM_017990:exon19:c.C2259T:p.D753D . . . . . . 0.3897 0.3722 0.3033 0.2760 0.4593 0.4245 0.4087 0.3503 0.4 0.35 0.42 0.36 . rs6499302 COSM3999906 3(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3863 0.3678 0.3063 0.3941 0.2761 0.4564 0.4247 0.3973 0.3512 0.4071 0.3739 0.3257 0.3851 0.2704 0.4593 0.4330 0.4189 het 1118.06 170 16 70190401 . C T 1118.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.883;DP=170;Dels=0.00;FS=3.686;HRun=0;HaplotypeScore=1.6385;MQ=59.73;MQ0=0;MQRankSum=0.590;QD=6.58;ReadPosRankSum=-0.084;VQSLOD=4.6246;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,50:170:99:1148,0,3443 16 70287177 70287177 A G exonic AARS synonymous SNV AARS:NM_001605:exon20:c.T2715C:p.V905V 0.88 0.99 0.78 0.97 0.8 0.81 0.8241 0.9650 0.8265 0.9698 0.8388 0.7918 0.8049 0.7825 0.85 0.96 0.79 0.91 0.75 rs4081753 COSM435653 1(thyroid) Benign Charcot-Marie-Tooth\x2c_Type_2 RCV000364752.1 MedGen CN239171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8230 0.9671 0.8354 0.7808 0.9710 0.8400 0.7893 0.8238 0.7778 0.8640 0.9664 0.8549 0.7616 0.9697 0.8542 0.8008 0.8153 het 1165.34 71 16 70287177 . A G 1165.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.206;DP=71;Dels=0.00;FS=2.246;HRun=4;HaplotypeScore=4.7593;MQ=58.82;MQ0=0;MQRankSum=-0.454;QD=16.41;ReadPosRankSum=-0.098;VQSLOD=5.1426;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:25,46:71:99:1195,0,592 16 70303580 70303580 G A exonic AARS synonymous SNV AARS:NM_001605:exon7:c.C903T:p.H301H 0.43 0.44 0.41 0.43 0.53 0.31 0.4659 0.4699 0.3819 0.4142 0.5988 0.5050 0.4857 0.3371 0.49 0.47 0.5 0.37 0.49 rs2070203 COSM5425617 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Charcot-Marie-Tooth\x2c_Type_2 RCV000374249.1|RCV000382444.1 MedGen|MedGen CN169374|CN239171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4660 0.4678 0.3972 0.5120 0.4141 0.6038 0.4979 0.4794 0.3366 0.5054 0.4641 0.4308 0.5563 0.4080 0.6069 0.5190 0.5122 het 3090.52 250 16 70303580 . G A 3090.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.285;DP=250;DS;Dels=0.00;FS=5.136;HRun=0;HaplotypeScore=10.9552;MQ=59.25;MQ0=0;MQRankSum=-0.268;QD=12.36;ReadPosRankSum=0.714;VQSLOD=3.8859;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:3121,0,3450 16 70395387 70395387 C T exonic DDX19A synonymous SNV DDX19A:NM_018332:exon5:c.C360T:p.N120N,DDX19A:NM_001320525:exon6:c.C90T:p.N30N 0.23 0.023 0.32 0.3 0.4 0.17 0.3286 0.0740 0.3052 0.3059 0.4648 0.3901 0.3429 0.2139 0.28 0.084 0.38 0.13 0.39 rs1134074 COSM3755018;COSM3755019 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3342 0.0710 0.3129 0.3701 0.3068 0.4714 0.3834 0.3536 0.2112 0.3092 0.0750 0.3162 0.4404 0.3029 0.4625 0.4027 0.3829 het 1789.26 147 16 70395387 . C T 1789.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.399;DP=147;Dels=0.00;FS=0.624;HRun=0;HaplotypeScore=3.6572;MQ=59.62;MQ0=0;MQRankSum=0.551;QD=12.17;ReadPosRankSum=-0.630;VQSLOD=6.2831;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,68:147:99:1819,0,1760 16 70506907 70506907 T C exonic FUK synonymous SNV FUK:NM_145059:exon15:c.T1428C:p.P476P 0.58 0.78 0.58 0.66 0.5 0.3 0.5579 0.784 0.6559 0.6777 0.6280 0.5348 0.5760 0.3595 0.57 0.75 0.49 0.47 0.37 rs7192865 COSM4129267;COSM1128894 1(prostate);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5189 0.7701 0.6208 0.5144 0.6415 0.5830 0.4788 0.5179 0.3194 0.6024 0.7708 0.6110 0.5728 0.6483 0.5865 0.5078 0.5267 het 31.78 12 16 70506907 . T C 31.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.925;DP=12;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9987;MQ=60.00;MQ0=0;MQRankSum=0.740;QD=2.65;ReadPosRankSum=1.294;VQSLOD=4.8728;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,3:12:61.77:62,0,260 16 70548297 70548297 G A exonic COG4 nonsynonymous SNV COG4:NM_001195139:exon4:c.C485T:p.T162I,COG4:NM_015386:exon4:c.C485T:p.T162I 0.96 1. 0.86 1. 0.93 0.97 0.9474 0.9892 0.8913 0.9998 0.9457 0.9409 0.9492 0.9598 0.96 0.99 0.94 0.96 0.93 rs3931036 . . other|Benign not_specified|Congenital_disorder_of_glycosylation RCV000081731.9|RCV000316983.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.998 0.225 P -2.98 0.000 N 0.97 0.425 T 3.74 0.001 N 0.1 0.530 -0.948 0.413 T 0.000 0.000 T . . . 1.298 0.220 12.26 0.113 0.002 0.279 0.232 N c -0.791 -0.438 0.999 0.376 0.707 0.730 0 5.51 0.817 7.020 0.760 0.244 0.267 1.000 0.715 0.996 0.625 11.509 0.495 . ENSG00000103051.14|ENSG00000157322.12|ENSG00000103051.14|ENSG00000103051.14|ENSG00000196696.8|ENSG00000157322.12|ENSG00000103051.14|ENSG00000157322.12|ENSG00000196696.8|ENSG00000103051.14|ENSG00000157322.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.9453 0.9908 0.9 0.9544 0.9997 0.9454 0.9396 0.9550 0.9580 0.9567 0.9904 0.9236 0.9536 0.9988 0.9488 0.9378 0.9348 het 712.68 67 16 70548297 . G A 712.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.718;DP=67;Dels=0.00;FS=3.425;HRun=1;HaplotypeScore=0.0000;MQ=59.00;MQ0=0;MQRankSum=0.650;QD=10.64;ReadPosRankSum=-0.289;VQSLOD=6.3489;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,26:67:99:743,0,1117 16 70690989 70690989 G C exonic IL34 nonsynonymous SNV IL34:NM_001172771:exon5:c.G364C:p.E122Q,IL34:NM_001172772:exon5:c.G367C:p.E123Q,IL34:NM_152456:exon5:c.G367C:p.E123Q 0.72 0.98 0.6 0.67 0.47 0.73 0.5764 0.9143 0.6714 0.6644 0.3990 0.4827 0.5553 0.7016 0.63 0.9 0.49 0.67 0.42 rs8046424 COSM5426858 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.374 0.135 N 1 0.090 P -1.735 0.003 N 0.93 0.441 T 0.42 0.034 N 0.016 0.003 -0.976 0.358 T 0.000 0.000 T . . . 0.097 0.103 3.581 0.674 0.081 0.004 0.018 N c -1.230 -1.085 1.000 0.747 0.713 0.817 0 3.04 0.340 0.793 0.264 -0.015 0.131 0.001 0.137 0.080 0.181 2.441 0.042 . ENSG00000157322.12|ENSG00000261556.4|ENSG00000223496.1|ENSG00000196696.8|ENSG00000196696.8|ENSG00000157335.15|ENSG00000261556.4|ENSG00000157322.12|ENSG00000261556.4|ENSG00000223496.1|ENSG00000196696.8|ENSG00000157322.12|ENSG00000157322.12|ENSG00000261556.4|ENSG00000189091.8|ENSG00000157335.15|ENSG00000157322.12|ENSG00000196696.8|ENSG00000223496.1|ENSG00000261556.4|ENSG00000157322.12|ENSG00000261556.4|ENSG00000196696.8|ENSG00000189091.8|ENSG00000261556.4|ENSG00000223496.1|ENSG00000223496.1|ENSG00000261556.4|ENSG00000223496.1|ENSG00000261556.4|ENSG00000157368.6|ENSG00000223496.1|ENSG00000196696.8|ENSG00000157322.12|ENSG00000261556.4|ENSG00000223496.1|ENSG00000196696.8|ENSG00000261556.4|ENSG00000223496.1|ENSG00000157335.15|ENSG00000196696.8|ENSG00000261556.4|ENSG00000223496.1|ENSG00000196696.8|ENSG00000157322.12|ENSG00000261556.4|ENSG00000223496.1|ENSG00000189091.8|ENSG00000196696.8|ENSG00000157322.12|ENSG00000261556.4|ENSG00000196696.8|ENSG00000196696.8|ENSG00000157322.12|ENSG00000261556.4|ENSG00000223496.1|ENSG00000196696.8|ENSG00000157322.12|ENSG00000223496.1|ENSG00000157335.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.5687 0.9163 0.6545 0.5199 0.6610 0.3960 0.4852 0.5341 0.6995 0.6004 0.9083 0.6420 0.4768 0.6615 0.4018 0.4674 0.5010 het 1686.65 142 16 70690989 . G C 1686.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.948;DP=142;Dels=0.00;FS=6.692;HRun=0;HaplotypeScore=0.9665;MQ=59.15;MQ0=0;MQRankSum=-0.441;QD=11.88;ReadPosRankSum=0.968;VQSLOD=4.8721;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,61:142:99:1717,0,2228 16 70710858 70710858 C T exonic MTSS1L synonymous SNV MTSS1L:NM_138383:exon10:c.G756A:p.S252S 0.065 0.0091 0.075 0.11 0.1 0.054 0.0705 0.0201 0.0763 0.1040 0.0681 0.0786 0.0847 0.0469 0.062 0.021 0.083 0.065 0.09 rs59984573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0690 0.0173 0.0745 0.0675 0.1023 0.0619 0.0773 0.0769 0.0441 0.0611 0.0171 0.0585 0.0795 0.0939 0.0571 0.0842 0.0571 het 272.15 37 16 70710858 . C T 272.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.988;DP=37;Dels=0.00;FS=1.341;HRun=0;HaplotypeScore=0.0000;MQ=57.31;MQ0=0;MQRankSum=-0.048;QD=7.36;ReadPosRankSum=-0.429;VQSLOD=3.5289;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,13:37:99:302,0,616 16 70726795 70726795 C A exonic VAC14 synonymous SNV VAC14:NM_001351157:exon17:c.G1413T:p.P471P,VAC14:NM_018052:exon18:c.G2115T:p.P705P 0.24 0.028 0.34 0.17 0.49 0.29 0.4147 0.0960 0.3759 0.1826 0.6016 0.4933 0.4318 0.3337 0.34 0.094 0.47 0.2 0.39 rs2278983 COSM3755023 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3842 0.0826 0.3110 0.3746 0.1548 0.5566 0.4706 0.4168 0.3033 0.3505 0.0919 0.3134 0.4007 0.1386 0.5599 0.4711 0.4366 het 39.66 13 16 70726795 . C A 39.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.592;DP=13;Dels=0.00;FS=3.041;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.085;QD=3.05;ReadPosRankSum=0.423;VQSLOD=2.8843;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,3:13:69.65:70,0,302 16 71318001 71318001 G T exonic CMTR2 nonsynonymous SNV CMTR2:NM_001324378:exon2:c.C1823A:p.T608K,CMTR2:NM_001324379:exon2:c.C1823A:p.T608K,CMTR2:NM_001099642:exon3:c.C1823A:p.T608K,CMTR2:NM_001324374:exon3:c.C1823A:p.T608K,CMTR2:NM_001324377:exon3:c.C1823A:p.T608K,CMTR2:NM_018348:exon3:c.C1823A:p.T608K 0.11 0.065 0.14 0.029 0.19 0.17 0.1417 0.0754 0.0662 0.0274 0.1888 0.1651 0.1534 0.1818 0.14 0.079 0.17 0.065 0.09 rs3096381 COSM3755033 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.179 0.220 T 0.09 0.236 B 0.014 0.158 B 0.182 0.171 N 1.000 0.090 P 1.1 0.281 L 2.56 0.137 T -0.25 0.110 N 0.047 0.036 -0.985 0.339 T 0.000 0.000 T . . . -0.956 0.034 0.020 0.648 0.074 0.502 0.284 D c -0.879 -0.814 0.997 0.353 0.732 0.924 0 2.66 0.305 1.471 0.347 -0.150 0.108 0.771 0.291 0.001 0.043 8.442 0.318 . ENSG00000180917.12|ENSG00000180917.12|ENSG00000180917.12|ENSG00000180917.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_EBV-transformed_lymphocytes 0.1439 0.0743 0.0772 0.1671 0.0289 0.1974 0.1674 0.1447 0.1840 0.1400 0.0708 0.0859 0.1755 0.0309 0.2030 0.1778 0.1711 het 252.10 28 16 71318001 . G T 252.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.235;DP=28;Dels=0.00;FS=6.054;HRun=2;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=1.082;QD=9.00;ReadPosRankSum=1.082;VQSLOD=5.1075;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,11:28:99:282,0,416 16 71319646 71319646 G A exonic CMTR2 nonsynonymous SNV CMTR2:NM_001324378:exon2:c.C178T:p.L60F,CMTR2:NM_001324379:exon2:c.C178T:p.L60F,CMTR2:NM_001099642:exon3:c.C178T:p.L60F,CMTR2:NM_001324374:exon3:c.C178T:p.L60F,CMTR2:NM_001324377:exon3:c.C178T:p.L60F,CMTR2:NM_018348:exon3:c.C178T:p.L60F 0.93 0.95 0.9 0.83 0.97 0.97 0.9463 0.9596 0.9094 0.8360 0.9764 0.9584 0.9383 0.9612 0.96 0.96 0.96 0.94 0.96 rs3096380 . . . . . . . . . . . . . 0.715 0.040 T 0.0 0.026 B 0.0 0.013 B 0.000 0.452 N 1.000 0.195 P -0.995 0.012 N 2.43 0.475 T 0.07 0.061 N 0.026 0.218 -0.966 0.380 T 0.000 0.000 T . . . 0.090 0.102 3.498 0.185 0.006 0.343 0.248 N c -0.894 -0.631 0.995 0.336 0.707 0.730 0 4.6 0.564 2.387 0.438 0.244 0.267 1.000 0.715 0.723 0.315 7.978 0.292 . ENSG00000261260.1 Testis 0.9453 0.9600 0.9150 0.9561 0.8333 0.9736 0.9588 0.9518 0.9599 0.9523 0.9591 0.9272 0.9636 0.8604 0.9731 0.9539 0.9633 hom 2242.10 72 16 71319646 . G A 2242.10 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=31.14;VQSLOD=9.1978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2275,184,0 16 71668634 71668634 T G exonic MARVELD3 synonymous SNV MARVELD3:NM_052858:exon3:c.T1134G:p.A378A . . . . . . 0.3917 0.2680 0.6092 0.7400 0.3696 0.3418 0.3800 0.3455 0.31 0.27 0.34 0.37 0.33 rs12932850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3985 0.2619 0.5793 0.3371 0.7487 0.3717 0.3361 0.3698 0.3434 0.3510 0.2631 0.4976 0.2682 0.7633 0.3763 0.3448 0.3585 het 1341.30 119 16 71668634 . T G 1341.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.372;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8825;MQ=59.10;MQ0=0;MQRankSum=0.343;QD=11.27;ReadPosRankSum=-0.061;VQSLOD=5.3450;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,56:119:99:1371,0,1684 16 71674882 71674882 C G exonic MARVELD3 synonymous SNV MARVELD3:NM_001017967:exon3:c.C1185G:p.P395P 0.4 0.25 0.53 0.68 0.33 0.31 0.3900 0.2748 0.6097 0.6903 0.3697 0.3445 0.3797 0.3394 0.31 0.27 0.33 0.37 0.34 rs2303225 COSM5019039 13(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3946 0.2658 0.5782 0.3333 0.6954 0.3717 0.3371 0.3684 0.3370 0.3485 0.2639 0.4976 0.2682 0.7068 0.3758 0.3455 0.3579 het 1154.20 82 16 71674882 . C G 1154.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DP=82;Dels=0.00;FS=4.250;HRun=2;HaplotypeScore=0.9958;MQ=60.00;MQ0=0;MQRankSum=0.550;QD=14.08;ReadPosRankSum=1.109;VQSLOD=5.3928;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,45:82:99:1184,0,956 16 72130203 72130203 C G exonic DHX38 synonymous SNV DHX38:NM_014003:exon2:c.C147G:p.L49L 0.51 0.81 0.36 0.35 0.4 0.5 0.4362 0.7460 0.2822 0.3179 0.3851 0.4219 0.4570 0.4875 0.53 0.73 0.43 0.58 0.37 rs1050361 COSM148114 1(breast);1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4237 0.7499 0.3066 0.4531 0.3091 0.3881 0.4190 0.4349 0.4849 0.4952 0.7412 0.3242 0.4033 0.3195 0.3755 0.4160 0.4094 hom 3119.57 94 16 72130203 . C G 3119.57 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.91;MQ0=0;QD=33.19;VQSLOD=9.8333;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3153,244,0 16 72130815 72130815 C A exonic DHX38 synonymous SNV DHX38:NM_014003:exon3:c.C418A:p.R140R 0.48 0.79 0.32 0.31 0.35 0.48 0.3965 0.7165 0.2564 0.2672 0.3548 0.3755 0.42 0.4590 0.48 0.69 0.37 0.51 0.33 rs1050362 COSM3999920 2(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3817 0.7210 0.2736 0.4188 0.2588 0.3555 0.3674 0.3903 0.4573 0.4496 0.7093 0.2974 0.3675 0.2692 0.3436 0.3579 0.3712 hom 8021.97 233 16 72130815 . C A 8021.97 Mask AC=2;AF=1.00;AN=2;DP=233;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6212;MQ=59.24;MQ0=0;QD=34.43;VQSLOD=7.8945;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,233:233:99:8021,641,0 16 72135014 72135014 T C exonic DHX38 synonymous SNV DHX38:NM_014003:exon10:c.T1308C:p.A436A 0.56 0.82 0.4 0.36 0.5 0.58 0.5172 0.7677 0.3175 0.3198 0.5008 0.5279 0.5286 0.5654 0.61 0.75 0.53 0.61 0.47 rs1050363 COSM148115 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5054 0.7709 0.3474 0.5796 0.3113 0.5013 0.5242 0.5160 0.5634 0.5673 0.7649 0.3789 0.5430 0.3208 0.4931 0.5124 0.4898 hom 7876.29 243 16 72135014 . T C 7876.29 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6203;MQ=59.29;MQ0=0;QD=32.41;VQSLOD=9.4896;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:243:99:7876,605,0 16 72137561 72137561 G A exonic DHX38 synonymous SNV DHX38:NM_014003:exon13:c.G1698A:p.T566T 0.47 0.78 0.31 0.31 0.35 0.46 0.3878 0.7124 0.2490 0.2634 0.3517 0.3656 0.4042 0.4490 0.48 0.69 0.37 0.51 0.33 rs2240243 COSM4418541 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3754 0.7177 0.2685 0.4025 0.2576 0.3540 0.3604 0.3836 0.4475 0.4460 0.7076 0.2919 0.3411 0.2679 0.3429 0.3529 0.3694 hom 4739.16 150 16 72137561 . G A 4739.16 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8300;MQ=60.00;MQ0=0;QD=31.59;VQSLOD=8.7992;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4738,391,0 16 72139184 72139184 C A exonic DHX38 synonymous SNV DHX38:NM_014003:exon17:c.C2316A:p.A772A 0.48 0.78 0.32 0.31 0.36 0.48 0.3927 0.7123 0.2523 0.2607 0.3529 0.3719 0.4152 0.4581 0.48 0.69 0.37 0.51 0.34 rs2074626 COSM1128887 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3804 0.7177 0.2727 0.4180 0.2555 0.3547 0.3661 0.3903 0.4568 0.4486 0.7082 0.2955 0.37 0.2683 0.3438 0.3569 0.3701 hom 4058.64 124 16 72139184 . C A 4058.64 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.1101;MQ=59.25;MQ0=0;QD=32.73;VQSLOD=9.7654;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:4058,328,0 16 72156842 72156842 T G exonic PMFBP1 nonsynonymous SNV PMFBP1:NM_031293:exon19:c.A2739C:p.K913N,PMFBP1:NM_001160213:exon20:c.A2304C:p.K768N 0.48 0.63 0.31 0.34 0.41 0.62 0.4420 0.5684 0.2699 0.2946 0.5029 0.4277 0.4791 0.5915 0.47 0.55 0.42 0.49 0.4 rs16973716 COSM3755053;COSM3755055;COSM3755054 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.083 0.574 T 0.999 0.764 D 0.996 0.832 D 0.000 0.513 D 0.889 0.321 P 1.73 0.448 L 0.33 0.583 T -4.06 0.745 D 0.1 0.149 -0.886 0.493 T 0.000 0.000 T . . . 5.795 0.793 27.1 0.999 0.934 0.721 0.350 D c 0.405 0.337 0.081 0.159 0.554 0.283 0 3.78 0.425 1.583 0.360 1.011 0.635 1.000 0.715 0.997 0.653 7.127 0.245 . ENSG00000261701.2|ENSG00000157429.11|ENSG00000118557.11|ENSG00000261701.2 Artery_Aorta|Testis|Testis|Whole_Blood 0.4344 0.5708 0.2853 0.5729 0.2886 0.4987 0.4154 0.4439 0.5886 0.4559 0.5611 0.3122 0.5430 0.3 0.5034 0.4082 0.4347 het 530.55 77 16 72156842 . T G 530.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.671;DP=77;Dels=0.00;FS=6.517;HRun=0;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;MQRankSum=-0.277;QD=6.89;ReadPosRankSum=0.408;VQSLOD=4.1785;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,25:77:99:561,0,1426 16 72827758 72827758 T C exonic ZFHX3 synonymous SNV ZFHX3:NM_001164766:exon8:c.A6081G:p.G2027G,ZFHX3:NM_006885:exon9:c.A8823G:p.G2941G 0.92 0.99 0.87 1. 0.83 0.87 0.8771 0.9717 0.8965 0.9988 0.9037 0.8453 0.8656 0.8589 0.88 0.97 0.84 0.94 0.82 rs699444 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8754 0.9737 0.8938 0.8331 0.9987 0.9042 0.8418 0.8612 0.8549 0.8969 0.9704 0.8950 0.7914 0.9981 0.9041 0.8456 0.8676 hom 4613.65 135 16 72827758 . T C 4613.65 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=34.18;VQSLOD=9.8328;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4613,355,0 16 72832135 72832135 T A exonic ZFHX3 synonymous SNV ZFHX3:NM_001164766:exon8:c.A1704T:p.A568A,ZFHX3:NM_006885:exon9:c.A4446T:p.A1482A 0.89 0.99 0.83 0.96 0.8 0.8 0.8362 0.9659 0.8458 0.9689 0.8691 0.8068 0.8216 0.7843 0.85 0.96 0.8 0.88 0.76 rs740178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8338 0.9688 0.8414 0.8025 0.9692 0.8661 0.8035 0.8217 0.7813 0.8673 0.9647 0.8373 0.7649 0.9710 0.8709 0.8043 0.8350 hom 8129.60 246 16 72832135 . T A 8129.60 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5197;MQ=59.54;MQ0=0;QD=33.05;VQSLOD=7.6083;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:8129,632,0 16 72991660 72991660 C G exonic ZFHX3 synonymous SNV ZFHX3:NM_006885:exon2:c.G2385C:p.P795P 0.77 0.75 0.9 0.69 0.87 0.69 0.8359 0.7799 0.9438 0.6824 0.9084 0.8665 0.8414 0.7227 0.84 0.79 0.86 0.74 0.84 rs10852515 COSM3999922 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8416 0.7814 0.9336 0.8231 0.6841 0.9123 0.8657 0.8655 0.7240 0.8398 0.7901 0.9153 0.8278 0.6621 0.9107 0.8661 0.8551 hom 4216.04 129 16 72991660 . C G 4216.04 Mask AC=2;AF=1.00;AN=2;DP=129;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.2678;MQ=58.18;MQ0=0;QD=32.68;VQSLOD=8.3868;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:129:99:4215,340,0 16 72992221 72992221 G A exonic ZFHX3 synonymous SNV ZFHX3:NM_006885:exon2:c.C1824T:p.S608S 0.083 0.017 0.098 . 0.23 0.095 0.1803 0.0454 0.0830 0.0006 0.2475 0.2550 0.1589 0.0999 0.18 0.054 0.25 0.043 0.19 rs61735550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1775 0.0431 0.0897 0.1574 0.0006 0.2473 0.2589 0.1802 0.0994 0.1833 0.0448 0.1026 0.2020 0 0.2596 0.2681 0.2200 het 934.80 77 16 72992221 . G A 934.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.457;DP=77;Dels=0.00;FS=2.035;HRun=0;HaplotypeScore=1.7262;MQ=59.70;MQ0=0;MQRankSum=-0.888;QD=12.14;ReadPosRankSum=0.213;VQSLOD=6.2414;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,38:77:99:965,0,1192 16 72993159 72993159 A G exonic ZFHX3 nonsynonymous SNV ZFHX3:NM_006885:exon2:c.T886C:p.S296P . . . . . . 0.0001 0 0 0 0 0.0003 0 0 0.0002 . 0.0003 . . rs200949296 . . . . . . . . . . . . . 0.001 0.784 D 0.999 0.764 D 0.993 0.797 D 0.001 0.426 D 1 0.810 D 2.215 0.627 M -2.28 0.875 D -4.23 0.759 D 0.902 0.891 0.688 0.930 D 0.765 0.920 D 0.399 0.934 D 3.211 0.445 22.7 0.992 0.562 0.985 0.836 D c 0.736 0.682 1.000 0.747 0.563 0.310 0 4.51 0.544 8.889 0.920 1.140 0.893 1.000 0.715 1.000 0.888 14.127 0.646 Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0001 0 0 0 0 0.0003 0.0002 0.0002 0 0.0003 0 0 0 0 0.0003 0.0006 0 het 2104.59 176 16 72993159 . A G 2104.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.754;DP=176;Dels=0.00;FS=4.916;HRun=1;HaplotypeScore=4.6192;MQ=59.16;MQ0=1;MQRankSum=-0.757;QD=11.96;ReadPosRankSum=0.110;VQSLOD=3.2675;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,76:176:99:2135,0,2688 16 72993622 72993622 C T exonic ZFHX3 synonymous SNV ZFHX3:NM_006885:exon2:c.G423A:p.A141A 0.044 0.051 0.032 0.003 0.062 0.067 0.0638 0.0596 0.0328 0.0014 0.0740 0.0751 0.0564 0.0721 0.068 0.063 0.07 0.043 0.025 rs62053190 COSM435759 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0613 0.0596 0.0358 0.0414 0.0012 0.0781 0.0750 0.0580 0.0691 0.0664 0.0570 0.0370 0.0497 0 0.0810 0.0775 0.0707 het 903.30 87 16 72993622 . C T 903.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.996;DP=87;Dels=0.00;FS=0.824;HRun=0;HaplotypeScore=1.9290;MQ=59.43;MQ0=0;MQRankSum=-1.266;QD=10.38;ReadPosRankSum=0.373;VQSLOD=5.8932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,37:87:99:933,0,1232 16 72993706 72993706 G A exonic ZFHX3 synonymous SNV ZFHX3:NM_006885:exon2:c.C339T:p.A113A 0.027 0.0061 0.03 0.002 0.06 0.047 0.0566 0.0147 0.0300 0.0013 0.0772 0.0746 0.0516 0.0501 0.051 0.016 0.068 . 0.033 rs62053191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0542 0.0134 0.0320 0.0385 0.0011 0.0790 0.0741 0.0512 0.0462 0.0534 0.0122 0.0334 0.0464 0 0.0813 0.0769 0.0694 het 691.34 59 16 72993706 . G A 691.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.577;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6238;MQ=58.43;MQ0=0;MQRankSum=-0.218;QD=11.72;ReadPosRankSum=0.016;VQSLOD=5.7094;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,27:59:99:721,0,896 16 72993925 72993925 C T exonic ZFHX3 synonymous SNV ZFHX3:NM_006885:exon2:c.G120A:p.E40E 0.028 0.0045 0.033 0.003 0.06 0.048 0.0550 0.0138 0.0302 0.0013 0.0736 0.0731 0.0486 0.0466 0.051 0.017 0.069 . 0.016 rs62053192 COSM3755062 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0542 0.0133 0.0324 0.0371 0.0010 0.0780 0.0739 0.0505 0.0455 0.0534 0.0120 0.0335 0.0464 0 0.0813 0.0770 0.0694 het 1585.80 135 16 72993925 . C T 1585.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.104;DP=135;Dels=0.00;FS=1.737;HRun=1;HaplotypeScore=1.6609;MQ=59.66;MQ0=0;MQRankSum=0.151;QD=11.75;ReadPosRankSum=1.398;VQSLOD=6.2602;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,65:135:99:1616,0,2044 16 74425548 74425548 A G exonic NPIPB15 nonsynonymous SNV NPIPB15:NM_001306094:exon7:c.A902G:p.Y301C . . . . . . 0.6317 0.6358 0.6015 0.6838 0.6175 0.6254 0.6225 0.6554 0.64 0.65 0.63 0.18 0.63 rs2868591 COSM4151407;COSM4151408 1(kidney) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 1.02 0.407 T 6.64 0.000 N 0.147 0.394 -0.920 0.455 T 0.000 0.000 T . . . -1.291 0.022 0.005 0.487 0.040 0.001 0.007 N c -1.005 -0.902 0.000 0.038 0.638 0.428 0 . . . . . . . . . . . . . . . 0.6321 0.6357 0.6042 0.6644 0.6819 0.6217 0.6247 0.6394 0.6550 0.6275 0.6309 0.6189 0.6531 0.6763 0.6252 0.6217 0.6122 hom 8223.70 246 16 74425548 . A G 8223.70 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6594;MQ=57.03;MQ0=0;QD=33.43;VQSLOD=5.4500;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,245:246:99:8223,653,0 16 74425569 74425569 C T exonic NPIPB15 nonsynonymous SNV NPIPB15:NM_001306094:exon7:c.C923T:p.P308L . . . . . . 0.4496 0.4207 0.3628 0.4281 0.4624 0.4638 0.4599 0.4758 0.38 0.32 0.4 0.098 0.4 rs11641596 COSM5484048;COSM5484049 1(large_intestine) . . . . . . . . . . . 0.012 0.546 D 0.411 0.333 B 0.12 0.306 B . . . 1 0.090 P . . . 0.64 0.529 T -5.9 0.888 D 0.229 0.431 -0.944 0.420 T 0.000 0.000 T . . . 3.713 0.503 23.3 0.939 0.234 0.001 0.006 N c -0.378 -0.446 0.000 0.038 0.638 0.428 0 . . . . 0.058 0.164 . . 0.003 0.074 . . . . . . . . . . . . . . 0.4363 0.3917 0.3842 0.4929 0.4022 0.4708 0.4584 0.4305 hom 7739.24 250 16 74425569 . C T 7739.24 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7635;MQ=56.84;MQ0=0;QD=30.96;VQSLOD=4.5549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7738,611,0 16 74499589 74499589 G A exonic GLG1 synonymous SNV GLG1:NM_001145666:exon18:c.C2619T:p.C873C,GLG1:NM_001145667:exon19:c.C2652T:p.C884C,GLG1:NM_012201:exon19:c.C2652T:p.C884C 0.11 0.055 0.16 0.15 0.14 0.08 0.1231 0.0646 0.1373 0.1677 0.1178 0.1330 0.1410 0.0877 0.11 0.067 0.13 0.054 0.14 rs2303275 COSM3755068 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1259 0.0616 0.1348 0.2520 0.1693 0.1223 0.1251 0.1334 0.0874 0.1068 0.0562 0.1316 0.1954 0.1613 0.1183 0.1226 0.1367 het 2757.34 250 16 74499589 . G A 2757.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.967;DP=250;DS;Dels=0.00;FS=1.538;HRun=0;HaplotypeScore=4.8029;MQ=59.19;MQ0=0;MQRankSum=0.563;QD=11.03;ReadPosRankSum=0.061;VQSLOD=5.8431;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,113:250:99:2787,0,3832 16 74537591 74537591 C T exonic GLG1 synonymous SNV GLG1:NM_001145666:exon3:c.G579A:p.L193L,GLG1:NM_001145667:exon4:c.G612A:p.L204L,GLG1:NM_012201:exon4:c.G612A:p.L204L 0.73 0.72 0.69 0.83 0.63 0.77 0.6823 0.7053 0.7678 0.8111 0.6393 0.6353 0.6689 0.7478 0.66 0.7 0.64 0.81 0.57 rs4887772 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6803 0.7028 0.7608 0.5281 0.8100 0.6353 0.6385 0.6645 0.7446 0.6718 0.7053 0.7404 0.5767 0.8195 0.6293 0.6461 0.6436 het 2326.70 239 16 74537591 . C T 2326.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.982;DP=239;DS;Dels=0.00;FS=0.487;HRun=0;HaplotypeScore=6.5360;MQ=59.26;MQ0=0;MQRankSum=-1.017;QD=9.74;ReadPosRankSum=-1.180;VQSLOD=4.1165;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,98:239:99:2357,0,3780 16 74664743 74664743 T C exonic RFWD3 nonsynonymous SNV RFWD3:NM_018124:exon10:c.A1690G:p.I564V 0.39 0.52 0.29 0.46 0.39 0.23 0.3810 0.5081 0.2191 0.4304 0.3455 0.4209 0.3733 0.2420 0.45 0.51 0.42 0.42 0.38 rs7193541 COSM148117 1(breast);1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.472 0.084 T 0.008 0.135 B 0.005 0.104 B 0.000 0.491 N 0.092 0.363 P 0.235 0.097 N 1.55 0.299 T -0.19 0.100 N 0.125 0.141 -0.928 0.444 T 0.000 0.000 T . . . 0.456 0.138 7.084 0.916 0.203 0.825 0.415 D c -0.596 -0.419 0.973 0.293 0.707 0.730 0 3.41 0.380 1.571 0.358 1.061 0.807 0.895 0.311 0.993 0.574 7.678 0.275 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.3692 0.5084 0.2363 0.3446 0.4356 0.3404 0.4230 0.3989 0.2364 0.4219 0.5079 0.2709 0.3667 0.4275 0.3450 0.4032 0.3541 het 1337.46 108 16 74664743 . T C 1337.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.449;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5592;MQ=59.56;MQ0=0;MQRankSum=-0.383;QD=12.38;ReadPosRankSum=0.864;VQSLOD=6.6032;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,49:108:99:1367,0,1591 16 74664810 74664810 A T exonic RFWD3 synonymous SNV RFWD3:NM_018124:exon10:c.T1623A:p.P541P 0.66 0.81 0.43 0.79 0.49 0.65 0.5521 0.7718 0.4130 0.7580 0.4540 0.5109 0.5132 0.6112 0.6 0.76 0.52 0.7 0.45 rs7188880 COSM3812424 1(bone);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5396 0.7739 0.4306 0.4733 0.7578 0.4476 0.5132 0.5324 0.6042 0.5855 0.7707 0.4582 0.53 0.7649 0.4590 0.5029 0.4847 het 1386.73 144 16 74664810 . A T 1386.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.340;DP=144;Dels=0.00;FS=2.232;HRun=0;HaplotypeScore=1.8401;MQ=59.44;MQ0=0;MQRankSum=0.857;QD=9.63;ReadPosRankSum=0.324;VQSLOD=6.3348;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,58:144:99:1417,0,2411 16 74670458 74670458 C T exonic RFWD3 synonymous SNV RFWD3:NM_018124:exon8:c.G1212A:p.T404T 0.66 0.81 0.42 0.79 0.49 0.65 0.5508 0.7716 0.4011 0.7556 0.4533 0.5106 0.5133 0.6119 0.6 0.75 0.52 0.71 0.39 rs4888262 . . . . . . . Testicular germ cell tumor 0.79 . 23666239 rs4888262 5E-12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5373 0.7738 0.4184 0.4726 0.7551 0.4470 0.5127 0.5313 0.6032 0.5855 0.7700 0.4486 0.5265 0.7646 0.4604 0.5034 0.4836 het 388.28 34 16 74670458 . C T 388.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.134;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8997;MQ=57.94;MQ0=0;MQRankSum=-0.929;QD=11.42;ReadPosRankSum=0.637;VQSLOD=4.9495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,14:34:99:418,0,514 16 74695079 74695079 G T exonic RFWD3 nonsynonymous SNV RFWD3:NM_018124:exon2:c.C269A:p.T90N 0.79 0.87 0.74 0.83 0.67 0.79 0.7139 0.8398 0.7839 0.8143 0.6433 0.6592 0.6876 0.7833 0.72 0.83 0.67 0.85 0.59 rs8058922 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.220 0.034 N 1 0.090 P -1.245 0.008 N 2.46 0.379 T 0.93 0.016 N 0.001 0.036 -0.969 0.375 T 0.000 0.000 T . . . -3.317 0.001 0.001 0.127 0.002 0.011 0.041 N c -2.242 -2.287 1.000 0.747 0.722 0.854 0 -9.46 0.005 -2.403 0.011 -1.907 0.006 0.000 0.063 0.001 0.043 9.958 0.407 . ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9|ENSG00000168411.9 Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.7113 0.8425 0.7809 0.5717 0.8128 0.6418 0.6651 0.6945 0.7792 0.7271 0.8448 0.7626 0.6225 0.8239 0.6400 0.6721 0.6731 het 3000.41 225 16 74695079 . G T 3000.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.429;DP=225;Dels=0.00;FS=1.621;HRun=1;HaplotypeScore=7.6600;MQ=59.16;MQ0=0;MQRankSum=-0.639;QD=13.34;ReadPosRankSum=0.563;VQSLOD=4.6506;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,114:225:99:3030,0,2964 16 74750396 74750396 T C exonic FA2H synonymous SNV FA2H:NM_024306:exon6:c.A888G:p.V296V 0.12 0.2 0.099 0.038 0.16 0.044 0.1195 0.2128 0.0680 0.0516 0.0644 0.1433 0.0975 0.0590 0.17 0.21 0.15 0.11 0.17 rs11554621 COSM3755071 1(large_intestine) Benign|Likely benign not_specified|Spastic_paraplegia_35 RCV000117013.2|RCV000389521.1 MedGen|MedGen:OMIM CN169374|C3668943:612319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1155 0.2178 0.0769 0.1043 0.0501 0.0606 0.1508 0.1160 0.0592 0.1439 0.2182 0.0919 0.0861 0.0508 0.0607 0.1369 0.1047 het 608.21 41 16 74750396 . T C 608.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.431;DP=41;Dels=0.00;FS=11.600;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.641;QD=14.83;ReadPosRankSum=1.373;VQSLOD=3.7702;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,22:41:99:638,0,527 16 74750405 74750405 G A exonic FA2H synonymous SNV FA2H:NM_024306:exon6:c.C879T:p.P293P 0.73 0.72 0.8 0.65 0.82 0.66 0.7732 0.7227 0.7592 0.6609 0.8283 0.8119 0.7868 0.6947 0.78 0.73 0.81 0.77 0.77 rs2301865 . . Benign|Benign not_specified|Spastic_paraplegia_35 RCV000117012.2|RCV000292801.1 MedGen|MedGen:OMIM CN169374|C3668943:612319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7726 0.7101 0.7531 0.7946 0.6580 0.8293 0.8129 0.7990 0.6911 0.7773 0.7191 0.7871 0.7781 0.6573 0.8222 0.8105 0.8149 hom 1215.67 38 16 74750405 . G A 1215.67 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.99;VQSLOD=13.8684;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:96.30:1249,96,0 16 74808425 74808425 G A exonic FA2H synonymous SNV FA2H:NM_024306:exon1:c.C229T:p.L77L 0.25 0.45 0.2 0.038 0.32 0.16 0.3587 0.5147 0.2679 0.0669 0.3835 0.3991 0.3714 0.2796 0.32 0.39 0.29 0.21 0.14 rs929881 COSM3749377 2(thyroid);4(large_intestine) Benign|Benign not_specified|Spastic_paraplegia_35 RCV000117009.3|RCV000355693.1 MedGen|MedGen:OMIM CN169374|C3668943:612319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2766 0.4658 0.2063 0.3989 0.0419 0.2667 0.3307 0.2925 0.1848 0.3207 0.4293 0.2212 0.3477 0.0309 0.2545 0.3119 0.2853 het 123.86 15 16 74808425 . G A 123.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.002;DP=15;Dels=0.00;FS=2.363;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.295;QD=8.26;ReadPosRankSum=-0.884;VQSLOD=5.6241;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,6:15:99:154,0,181 16 75238103 75238103 C T exonic CTRB2 nonsynonymous SNV CTRB2:NM_001025200:exon7:c.G748A:p.A250T 0.83 0.6 0.89 1. 0.83 0.92 0.8474 0.6264 0.9238 0.9977 0.8987 0.8308 0.8650 0.9000 0.75 0.63 0.82 0.75 0.75 rs4737 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.195 P -0.58 0.023 N -3.15 0.929 D 3.02 0.001 N 0.037 0.036 -0.906 0.474 T 0.000 0.000 T . . . 1.341 0.225 12.48 0.152 0.004 0.035 0.085 N c -0.963 -0.829 0.016 0.128 0.422 0.057 0 4.09 0.469 1.647 0.366 0.053 0.162 1.000 0.715 0.002 0.062 5.027 0.136 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000050820.12|ENSG00000168928.8 Nerve_Tibial|Pancreas 0.8529 0.6260 0.9207 0.8014 0.9972 0.8983 0.8243 0.8463 0.8992 0.7951 0.6292 0.8986 0.8510 0.9969 0.8960 0.8347 0.8602 hom 4516.04 149 16 75238103 . C T 4516.04 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8909;MQ=59.58;MQ0=0;QD=30.31;VQSLOD=8.7532;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:149:99:4515,367,0 16 75269267 75269267 A G exonic BCAR1 synonymous SNV BCAR1:NM_001170721:exon4:c.T900C:p.A300A,BCAR1:NM_001170715:exon5:c.T1584C:p.A528A,BCAR1:NM_001170716:exon5:c.T1584C:p.A528A,BCAR1:NM_001170717:exon5:c.T1584C:p.A528A,BCAR1:NM_001170718:exon5:c.T1530C:p.A510A,BCAR1:NM_001170719:exon5:c.T1524C:p.A508A,BCAR1:NM_014567:exon5:c.T1530C:p.A510A,BCAR1:NM_001170714:exon6:c.T1668C:p.A556A,BCAR1:NM_001170720:exon6:c.T1086C:p.A362A 0.93 0.95 0.92 1. 0.83 0.94 0.8735 0.9035 0.9339 0.9962 0.8950 0.8288 0.8789 0.9156 0.85 0.9 0.82 0.85 0.6 rs3169330 COSM3755080;COSM3755078;COSM5828446;COSM3755079;COSM3755077 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8729 0.9019 0.9298 0.8309 0.9954 0.8932 0.8190 0.8587 0.9170 0.8685 0.8954 0.9211 0.8742 0.9957 0.8941 0.8299 0.8735 hom 2143.99 66 16 75269267 . A G 2143.99 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.1877;MQ=59.65;MQ0=0;QD=32.48;VQSLOD=8.7943;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2177,178,0 16 75269534 75269534 C T exonic BCAR1 synonymous SNV BCAR1:NM_001170721:exon4:c.G633A:p.P211P,BCAR1:NM_001170715:exon5:c.G1317A:p.P439P,BCAR1:NM_001170716:exon5:c.G1317A:p.P439P,BCAR1:NM_001170717:exon5:c.G1317A:p.P439P,BCAR1:NM_001170718:exon5:c.G1263A:p.P421P,BCAR1:NM_001170719:exon5:c.G1257A:p.P419P,BCAR1:NM_014567:exon5:c.G1263A:p.P421P,BCAR1:NM_001170714:exon6:c.G1401A:p.P467P,BCAR1:NM_001170720:exon6:c.G819A:p.P273P 0.47 0.31 0.37 0.85 0.32 0.54 0.4260 0.3462 0.4934 0.8319 0.4616 0.3362 0.4547 0.5295 0.3 0.3 0.31 0.28 0.24 rs3743613 COSM4129363;COSM4129361;COSM4129360;COSM4129362 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3995 0.3037 0.4469 0.3113 0.8281 0.4035 0.3046 0.3716 0.5036 0.3358 0.2886 0.4368 0.3079 0.8173 0.3982 0.2892 0.3681 hom 669.18 21 16 75269534 . C T 669.18 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.87;VQSLOD=14.1364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.15:702,57,0 16 75276775 75276775 G A exonic BCAR1 nonsynonymous SNV BCAR1:NM_001170715:exon2:c.C280T:p.P94S,BCAR1:NM_001170716:exon2:c.C280T:p.P94S,BCAR1:NM_001170717:exon2:c.C226T:p.P76S,BCAR1:NM_001170718:exon2:c.C226T:p.P76S,BCAR1:NM_001170719:exon2:c.C220T:p.P74S,BCAR1:NM_014567:exon2:c.C226T:p.P76S,BCAR1:NM_001170714:exon3:c.C364T:p.P122S 0.59 0.34 0.76 0.63 0.68 0.69 0.6795 0.4009 0.8294 0.6362 0.7406 0.6903 0.7055 0.6949 0.58 0.4 0.67 0.4 0.33 rs1035539 COSM3755083;COSM1563498;COSM1563499;COSM5426652;COSM1563497 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.16 0.250 T 0.0 0.135 B 0.002 0.121 B 0.318 0.041 N 1 0.424 P 1.1 0.281 L 0.51 0.555 T -0.48 0.164 N 0.074 0.312 -0.944 0.420 T 0.000 0.000 T . . . -0.831 0.039 0.037 0.750 0.105 0.800 0.395 D c -0.560 -0.500 1.000 0.747 0.722 0.854 0 3.99 0.454 2.541 0.451 1.048 0.713 0.148 0.234 0.038 0.155 9.914 0.404 SH3 domain ENSG00000050820.12|ENSG00000168928.8 Nerve_Tibial|Pancreas 0.6841 0.3890 0.8186 0.6308 0.6380 0.7412 0.6809 0.6886 0.6962 0.6127 0.3914 0.7721 0.6324 0.6457 0.7398 0.6941 0.6804 hom 1316.43 44 16 75276775 . G A 1316.43 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53.99;MQ0=0;QD=29.92;VQSLOD=5.5405;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1349,114,0 16 75327916 75327916 A G exonic CFDP1 synonymous SNV CFDP1:NM_006324:exon7:c.T834C:p.L278L 0.79 0.78 0.9 0.6 0.85 0.84 0.8427 0.7948 0.9200 0.5947 0.8212 0.8624 0.8557 0.8768 0.83 0.79 0.86 0.78 0.8 rs6624 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8447 0.7894 0.9145 0.8893 0.6026 0.8242 0.8599 0.8527 0.8755 0.8244 0.7886 0.8878 0.9040 0.6120 0.8263 0.8617 0.8367 hom 3337.12 114 16 75327916 . A G 3337.12 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.80;MQ0=0;QD=29.27;VQSLOD=8.5442;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3336,265,0 16 75563330 75563330 G A exonic CHST5 nonsynonymous SNV CHST5:NM_024533:exon3:c.C953T:p.T318M 0.14 0.11 0.14 0.21 0.2 0.059 0.1679 0.1230 0.0877 0.1719 0.2138 0.2039 0.1745 0.0885 0.17 0.12 0.2 0.12 0.14 rs3826107 COSM435778;COSM4783651 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.025 0.473 D 0.999 0.764 D 0.975 0.754 D 0.000 0.843 D 0.000 0.588 P 2.9 0.842 M 1.79 0.255 T -2.55 0.551 D 0.213 0.290 -1.085 0.064 T 0.000 0.001 T . . . 4.904 0.659 24.9 0.998 0.869 0.969 0.712 D c 0.400 0.234 1.000 0.500 0.554 0.246 0 2.84 0.321 6.319 0.726 0.985 0.599 1.000 0.715 0.676 0.304 12.663 0.560 P-loop containing nucleoside triphosphate hydrolase|Sulfotransferase domain ENSG00000065457.6|ENSG00000205084.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000034713.3|ENSG00000205084.6|ENSG00000065457.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.1636 0.1195 0.0963 0.0925 0.1761 0.2140 0.2050 0.1684 0.0902 0.1811 0.1194 0.1146 0.11 0.1934 0.2236 0.2103 0.1908 het 2001.16 138 16 75563330 . G A 2001.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.153;DP=138;Dels=0.00;FS=1.528;HRun=0;HaplotypeScore=4.3807;MQ=59.48;MQ0=0;MQRankSum=0.720;QD=14.50;ReadPosRankSum=0.383;VQSLOD=5.9478;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,71:138:99:2031,0,1876 16 75563746 75563746 T G exonic CHST5 synonymous SNV CHST5:NM_024533:exon3:c.A537C:p.P179P 0.2 0.34 0.14 0.21 0.2 0.059 0.1867 0.3293 0.0944 0.1719 0.2173 0.2038 0.1890 0.0894 0.24 0.32 0.2 0.23 0.16 rs8048818 COSM4786603;COSM3755085 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1797 0.3306 0.1037 0.1268 0.1764 0.2173 0.2040 0.1809 0.0911 0.2415 0.3274 0.1259 0.1457 0.1942 0.2266 0.2112 0.2020 het 3215.58 230 16 75563746 . T G 3215.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.366;DP=230;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.1489;MQ=56.40;MQ0=0;MQRankSum=1.008;QD=13.98;ReadPosRankSum=-1.061;VQSLOD=3.5166;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,121:230:99:3246,0,2819 16 75590113 75590113 C G exonic TMEM231 synonymous SNV TMEM231:NM_001077416:exon1:c.G57C:p.R19R 0.2 0.15 0.15 0.27 0.27 0.15 0.3116 0.2577 0.1394 0.3175 0.3175 0.3310 0.3151 0.2661 0.18 0.14 0.19 0.15 . rs3743602 . . Benign not_specified RCV000245636.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2186 0.1719 0.1167 0.1161 0.2422 0.2794 0.2450 0.2330 0.1799 0.2358 0.1656 0.1337 0.1457 0.2534 0.3098 0.2632 0.2648 het 128 11 16 75590113 . C G 128 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.470;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9985;MQ=60.00;MQ0=0;MQRankSum=-0.676;QD=11.64;ReadPosRankSum=1.268;VQSLOD=5.2245;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,5:11:99:158,0,152 16 75646685 75646685 G T exonic ADAT1 nonsynonymous SNV ADAT1:NM_001324452:exon5:c.C238A:p.H80N,ADAT1:NM_001324453:exon5:c.C238A:p.H80N,ADAT1:NM_001324445:exon6:c.C499A:p.H167N,ADAT1:NM_001324449:exon6:c.C499A:p.H167N,ADAT1:NM_001324451:exon6:c.C52A:p.H18N,ADAT1:NM_001324444:exon7:c.C52A:p.H18N,ADAT1:NM_001324446:exon7:c.C52A:p.H18N,ADAT1:NM_001324448:exon7:c.C499A:p.H167N,ADAT1:NM_001324450:exon7:c.C52A:p.H18N,ADAT1:NM_012091:exon7:c.C499A:p.H167N 0.57 0.72 0.5 0.82 0.24 0.51 0.3692 0.6877 0.5383 0.8298 0.2230 0.2277 0.3535 0.4404 0.36 0.66 0.21 0.5 0.28 rs3743598 COSM5001572 1(pancreas) . . . . . . . . . . . 0.667 0.046 T 0.0 0.026 B 0.002 0.063 B 0.136 0.028 N 1 0.090 P -1.04 0.011 N 2.56 0.137 T 1.05 0.013 N 0.012 0.007 -0.984 0.341 T 0.000 0.000 T . . . -0.794 0.040 0.044 0.694 0.087 0.009 0.035 N c -1.430 -1.321 0.143 0.173 0.732 0.924 0 1.81 0.240 -0.037 0.120 0.152 0.238 0.000 0.063 0.382 0.251 6.838 0.230 Adenosine deaminase/editase ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000205084.6|ENSG00000065457.6|ENSG00000065457.6|ENSG00000065457.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid 0.3663 0.6883 0.5276 0.2459 0.8253 0.2145 0.2241 0.3166 0.4391 0.3883 0.6807 0.4940 0.2351 0.8159 0.2220 0.2133 0.3098 het 1706.25 126 16 75646685 . G T 1706.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.066;DP=126;Dels=0.00;FS=1.429;HRun=1;HaplotypeScore=0.7340;MQ=58.68;MQ0=0;MQRankSum=-1.079;QD=13.54;ReadPosRankSum=-0.830;VQSLOD=5.7046;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,65:126:99:1736,0,1704 16 76311602 76311602 - T exonic CNTNAP4 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. . . rs59314262 COSM4603136 23(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 767.79 18 16 76311602 . G GT 767.79 Mask AC=2;AF=1.00;AN=2;DP=18;FS=0.000;HRun=1;HaplotypeScore=36.7933;MQ=60.00;MQ0=0;QD=42.65;set=variant2 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:810,54,0 16 76532583 76532583 A G exonic CNTNAP4 nonsynonymous SNV CNTNAP4:NM_001322180:exon14:c.A1970G:p.Q657R,CNTNAP4:NM_001322191:exon14:c.A1430G:p.Q477R,CNTNAP4:NM_138994:exon14:c.A2138G:p.Q713R,CNTNAP4:NM_001322187:exon16:c.A941G:p.Q314R,CNTNAP4:NM_001322189:exon16:c.A2093G:p.Q698R 0.84 0.64 0.88 0.97 0.91 0.88 0.8820 0.6746 0.8998 0.9752 0.8261 0.9045 0.8940 0.8742 0.84 0.7 0.91 0.84 . rs12933808 . . . . . . . . . . . . . 0.698 0.042 T 0.0 0.026 B 0.001 0.040 B 0.167 0.175 N 1 0.090 P . . . -1.24 0.790 T -0.43 0.162 N 0.015 0.804 -0.994 0.316 T 0.000 0.000 T . . . 0.099 0.103 3.602 0.924 0.212 0.013 0.044 N c -1.079 -1.093 0.000 0.012 0.554 0.246 0 -0.494 0.114 0.037 0.136 0.138 0.222 0.000 0.063 0.942 0.416 6.041 0.188 Concanavalin A-like lectin/glucanase domain;Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain . . 0.8870 0.6613 0.9069 0.9443 0.9744 0.8409 0.9058 0.8909 0.8750 0.8285 0.6672 0.9069 0.9139 0.9803 0.8426 0.8929 0.8816 hom 1732.62 52 16 76532583 . A G 1732.62 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9916;MQ=58.83;MQ0=0;QD=33.32;VQSLOD=9.6266;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1766,138,0 16 76587202 76587202 T G exonic CNTNAP4 nonsynonymous SNV CNTNAP4:NM_001322180:exon21:c.T3078G:p.D1026E,CNTNAP4:NM_001322191:exon21:c.T2538G:p.D846E,CNTNAP4:NM_138994:exon21:c.T3246G:p.D1082E,CNTNAP4:NM_001322187:exon23:c.T2049G:p.D683E,CNTNAP4:NM_001322189:exon23:c.T3201G:p.D1067E 0.3 0.34 0.2 0.28 0.28 0.35 0.3018 0.3570 0.2208 0.2955 0.2744 0.2932 0.2607 0.3765 0.3 0.33 0.28 0.3 . rs7202925 COSM148119;COSM3755086 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.093 B 0.001 0.418 N 1.000 0.090 P . . . 1.0 0.414 T 1.04 0.016 N 0.007 0.077 -0.977 0.358 T 0.000 0.000 T . . . 0.707 0.161 8.874 0.617 0.066 0.065 0.124 N c -0.683 -0.542 0.000 0.029 0.487 0.133 0 3.32 0.370 -0.064 0.115 -0.240 0.092 0.084 0.222 0.139 0.202 10.887 0.460 Concanavalin A-like lectin/glucanase domain|Laminin G domain . . 0.2868 0.3466 0.2155 0.2423 0.2865 0.2595 0.2900 0.2594 0.3627 0.3062 0.3449 0.2506 0.2583 0.2849 0.2587 0.3024 0.2875 hom 1094.02 35 16 76587202 . T G 1094.02 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.13;MQ0=0;QD=31.26;VQSLOD=8.2064;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:87.27:1127,87,0 16 76587331 76587331 T C exonic CNTNAP4 synonymous SNV CNTNAP4:NM_001322180:exon21:c.T3207C:p.T1069T,CNTNAP4:NM_001322191:exon21:c.T2667C:p.T889T,CNTNAP4:NM_138994:exon21:c.T3375C:p.T1125T,CNTNAP4:NM_001322187:exon23:c.T2178C:p.T726T,CNTNAP4:NM_001322189:exon23:c.T3330C:p.T1110T 0.3 0.34 0.19 0.29 0.28 0.35 0.3062 0.3643 0.2265 0.3006 0.2792 0.2964 0.2690 0.3829 0.3 0.34 0.28 0.32 . rs7184958 COSM3755087;COSM3755088 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2876 0.3468 0.2164 0.2438 0.2878 0.2597 0.2911 0.2597 0.3638 0.3061 0.3441 0.2494 0.2583 0.2845 0.2582 0.3027 0.2879 hom 645.63 21 16 76587331 . T C 645.63 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;QD=30.74;VQSLOD=8.3622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:60.15:679,60,0 16 77228629 77228629 A G exonic MON1B synonymous SNV MON1B:NM_001286640:exon2:c.A435G:p.R145R,MON1B:NM_001286639:exon3:c.A546G:p.R182R,MON1B:NM_014940:exon4:c.A873G:p.R291R 0.99 0.95 1. 1. 1. 1. 0.9972 0.9694 0.9989 1 1 0.9999 0.9989 1 0.99 0.97 1. 0.91 0.98 rs2232503 COSM4129372 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9699 0.9984 1 1 1 0.9999 0.9987 1.0000 0.9905 0.9672 0.9976 1 1 1 0.9999 0.9949 hom 4025.64 119 16 77228629 . A G 4025.64 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8100;MQ=59.02;MQ0=0;QD=33.83;VQSLOD=8.9591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:4025,316,0 16 77228866 77228866 T C exonic MON1B synonymous SNV MON1B:NM_001286640:exon2:c.T672C:p.V224V,MON1B:NM_001286639:exon3:c.T783C:p.V261V,MON1B:NM_014940:exon4:c.T1110C:p.V370V 0.78 0.91 0.76 0.87 0.58 0.73 0.6785 0.8761 0.7970 0.8553 0.5538 0.6036 0.6663 0.7309 0.69 0.87 0.6 0.74 0.61 rs2232504 COSM4129373 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6762 0.8808 0.7821 0.6262 0.8565 0.5515 0.6028 0.6678 0.7308 0.6982 0.8712 0.7333 0.6192 0.8622 0.5415 0.6214 0.6153 hom 3470.78 108 16 77228866 . T C 3470.78 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9025;MQ=57.43;MQ0=0;QD=32.14;VQSLOD=7.8366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3470,307,0 16 77323235 77323235 C G exonic ADAMTS18 nonsynonymous SNV ADAMTS18:NM_001326358:exon22:c.G2960C:p.S987T,ADAMTS18:NM_199355:exon22:c.G3476C:p.S1159T 0.18 0.21 0.13 0.22 0.15 0.18 0.1499 0.2009 0.1024 0.2216 0.1163 0.1435 0.1487 0.1529 0.16 0.21 0.14 0.21 0.13 rs3743749 COSM3999932 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.02 0.496 D 0.116 0.249 B 0.115 0.303 B 0.000 0.559 D 0.999 0.214 P 0.98 0.250 L 0.12 0.611 T -1.51 0.368 N 0.098 0.100 -1.078 0.078 T 0.000 0.000 T . . . 2.518 0.364 19.58 0.996 0.712 0.365 0.253 N c -0.412 -0.353 1.000 0.747 0.731 0.878 0 4.82 0.615 3.165 0.502 0.046 0.159 0.222 0.243 0.907 0.385 13.782 0.624 . . . 0.1477 0.2022 0.1060 0.1438 0.2188 0.1162 0.1464 0.1625 0.1528 0.1657 0.1969 0.1220 0.1490 0.1962 0.1246 0.1586 0.1337 het 2381.49 162 16 77323235 . C G 2381.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.040;DP=162;DS;Dels=0.00;FS=4.635;HRun=0;HaplotypeScore=7.1672;MQ=59.57;MQ0=0;MQRankSum=0.117;QD=14.70;ReadPosRankSum=1.144;VQSLOD=4.5737;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,81:162:99:2411,0,2304 16 77353973 77353973 G T exonic ADAMTS18 nonsynonymous SNV ADAMTS18:NM_001326358:exon16:c.C1789A:p.L597I,ADAMTS18:NM_199355:exon16:c.C2305A:p.L769I 0.64 0.77 0.63 0.87 0.36 0.49 0.4964 0.7498 0.6603 0.8818 0.3485 0.3945 0.4670 0.4929 0.51 0.75 0.39 0.63 0.37 rs9930984 COSM3755091 1(large_intestine) . . . . . . . . . . . 0.481 0.082 T 0.001 0.067 B 0.005 0.104 B 0.936 0.076 N 1 0.090 P -0.045 0.049 N 0.7 0.515 T -0.04 0.076 N 0.029 0.010 -0.987 0.334 T 0.000 0.000 T . . . -0.144 0.081 1.426 0.473 0.038 0.074 0.133 N c -1.111 -1.002 0.087 0.160 0.563 0.310 0 2.08 0.260 2.528 0.450 -0.218 0.098 0.998 0.411 0.003 0.074 5.857 0.179 ADAM-TS Spacer 1 ENSG00000226348.1 Testis 0.4946 0.7543 0.6443 0.3875 0.8830 0.3469 0.3936 0.4603 0.4915 0.5272 0.7478 0.5990 0.3808 0.8795 0.3497 0.4066 0.4440 het 800.80 82 16 77353973 . G T 800.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.054;DP=82;Dels=0.00;FS=0.864;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=-0.303;QD=9.77;ReadPosRankSum=1.106;VQSLOD=5.8935;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,33:82:99:831,0,1256 16 77359919 77359919 A T exonic ADAMTS18 nonsynonymous SNV ADAMTS18:NM_001326358:exon13:c.T1360A:p.L454I,ADAMTS18:NM_199355:exon13:c.T1876A:p.L626I 0.44 0.15 0.56 0.87 0.36 0.39 0.4263 0.1899 0.6265 0.8837 0.3744 0.3799 0.4358 0.4037 0.32 0.21 0.38 0.3 0.36 rs11640912 COSM3755092 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.015 0.158 B 0.006 0.112 B 0.000 0.843 D 1 0.090 P 1.02 0.256 L 3.89 0.036 T -0.82 0.225 N 0.039 0.019 -1.056 0.129 T 0.000 0.000 T . . . 4.000 0.538 23.6 0.989 0.479 0.321 0.243 N c -0.262 -0.071 0.997 0.353 0.732 0.924 0 4.83 0.617 4.216 0.581 0.088 0.194 1.000 0.715 0.996 0.625 8.640 0.330 . ENSG00000226348.1 Testis 0.4372 0.1916 0.6108 0.3804 0.8842 0.3673 0.3789 0.4189 0.4035 0.3611 0.1900 0.5457 0.3767 0.8837 0.3653 0.3903 0.3998 het 978.80 81 16 77359919 . A T 978.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.728;DP=81;Dels=0.00;FS=2.063;HRun=0;HaplotypeScore=1.9984;MQ=59.02;MQ0=0;MQRankSum=-0.987;QD=12.08;ReadPosRankSum=-1.252;VQSLOD=5.7059;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,40:81:99:1009,0,1211 16 77389956 77389956 A G exonic ADAMTS18 synonymous SNV ADAMTS18:NM_001326358:exon9:c.T825C:p.D275D,ADAMTS18:NM_199355:exon9:c.T1341C:p.D447D 0.88 0.9 0.87 0.9 0.85 0.88 0.8643 0.8934 0.8571 0.9078 0.7805 0.8617 0.8557 0.8726 0.87 0.89 0.87 0.92 0.88 rs8059275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8615 0.8902 0.8564 0.9140 0.9068 0.7745 0.8624 0.8589 0.8703 0.8623 0.8955 0.8421 0.9305 0.9047 0.7851 0.8574 0.8429 het 1036.95 94 16 77389956 . A G 1036.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.075;DP=94;Dels=0.00;FS=3.943;HRun=0;HaplotypeScore=2.7554;MQ=59.75;MQ0=0;MQRankSum=-0.764;QD=11.03;ReadPosRankSum=-1.181;VQSLOD=5.5663;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,45:94:99:1067,0,1293 16 77401545 77401545 A G exonic ADAMTS18 nonsynonymous SNV ADAMTS18:NM_199355:exon4:c.T571C:p.Y191H 0.37 0.25 0.52 0.58 0.25 0.32 0.3157 0.2540 0.6095 0.5734 0.2720 0.2509 0.2974 0.2951 0.25 0.26 0.25 0.35 0.25 rs11643211 COSM3755093 1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.428 0.096 T 0.599 0.374 P 0.345 0.408 B 0.000 0.843 D 0.000 0.530 P 1.435 0.361 L 3.39 0.057 T -1.59 0.383 N 0.568 0.600 -1.062 0.111 T 0.000 0.000 T . . . 2.563 0.369 19.87 0.996 0.728 0.980 0.782 D c 0.177 0.278 1.000 0.747 0.563 0.310 0 4.72 0.591 7.161 0.769 1.199 0.960 1.000 0.715 0.996 0.625 13.538 0.610 Peptidase M12B\x2c propeptide . . 0.3255 0.2541 0.5839 0.1916 0.5711 0.2616 0.2521 0.3205 0.2975 0.2814 0.2557 0.5120 0.1921 0.5547 0.2579 0.2603 0.2969 het 2165.33 135 16 77401545 . A G 2165.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.059;DP=135;Dels=0.00;FS=2.194;HRun=1;HaplotypeScore=0.9867;MQ=59.31;MQ0=0;MQRankSum=2.869;QD=16.04;ReadPosRankSum=-2.327;VQSLOD=4.2153;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,72:135:99:2195,0,1627 16 77775672 77775672 A G exonic NUDT7 nonsynonymous SNV NUDT7:NM_001243661:exon3:c.A383G:p.E128G,NUDT7:NM_001105663:exon4:c.A542G:p.E181G,NUDT7:NM_001243660:exon4:c.A497G:p.E166G 0.083 0.041 0.17 0.15 0.056 0.036 0.0651 0.0477 0.1100 0.1367 0.0575 0.0585 0.06 0.0366 0.054 0.047 0.058 0.076 0.057 rs16946429 COSM3755094 1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.999 0.764 D 0.974 0.715 D 0.006 0.320 N 0.000 0.588 P 2.52 0.738 M 0.86 0.468 T -4.53 0.783 D 0.088 0.084 -1.020 0.237 T 0.002 0.006 T . . . 2.869 0.405 21.7 0.995 0.684 0.885 0.481 D c 0.023 -0.101 0.668 0.223 0.693 0.558 0 4.45 0.532 2.810 0.474 1.199 0.960 0.871 0.306 0.100 0.189 10.322 0.428 NUDIX hydrolase domain-like;NUDIX hydrolase domain|NUDIX hydrolase domain-like . . 0.0686 0.0470 0.1121 0.0703 0.1388 0.0577 0.0583 0.0690 0.0376 0.0552 0.0472 0.0883 0.0861 0.1343 0.0512 0.0495 0.0592 hom 4207.43 132 16 77775672 . A G 4207.43 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9941;MQ=59.67;MQ0=0;QD=31.87;VQSLOD=9.0421;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4207,322,0 16 78064733 78064733 C A exonic CLEC3A nonsynonymous SNV CLEC3A:NM_001244755:exon2:c.C433A:p.Q145K,CLEC3A:NM_005752:exon3:c.C616A:p.Q206K 0.13 0.072 0.14 0.24 0.12 0.095 0.1341 0.0825 0.1405 0.2380 0.1013 0.1355 0.1392 0.1103 0.12 0.083 0.13 0.13 0.13 rs2072663 COSM4415681;COSM4415680 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.001 0.067 B 0.0 0.013 B 0.018 0.015 N 1.000 0.198 P 0.805 0.203 L 3.29 0.065 T . . . 0.115 0.126 -1.026 0.219 T 0.000 0.000 T . . . 1.577 0.251 13.73 0.843 0.147 0.801 0.395 D c -0.824 -0.685 0.667 0.223 0.487 0.133 0 3.85 0.434 3.138 0.500 0.139 0.223 0.720 0.286 0.115 0.194 10.229 0.422 . . . 0.1332 0.0833 0.1366 0.1686 0.2429 0.1012 0.1333 0.1400 0.1026 0.1245 0.0829 0.1527 0.1755 0.2770 0.1014 0.1339 0.1411 het 1812.86 163 16 78064733 . C A 1812.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.362;DP=163;Dels=0.00;FS=2.457;HRun=2;HaplotypeScore=2.6639;MQ=59.63;MQ0=0;MQRankSum=0.905;QD=11.12;ReadPosRankSum=-0.851;VQSLOD=6.3804;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,69:163:99:1843,0,2769 16 78420775 78420775 G A exonic WWOX nonsynonymous SNV WWOX:NM_001291997:exon5:c.G196A:p.A66T,WWOX:NM_016373:exon6:c.G535A:p.A179T 0.26 0.11 0.4 0.064 0.61 0.23 0.4507 0.1908 0.3525 0.0648 0.5956 0.5864 0.4744 0.2675 0.46 0.2 0.58 0.23 0.57 rs11545029 COSM4827709;COSM4827708 1(cervix) Benign not_specified RCV000253370.2 MedGen CN169374 . . . . . . 0.534 0.133 T 0.098 0.240 B 0.076 0.269 B 0.000 0.629 D 0.001 0.810 P 0.56 0.152 N -2.28 0.875 D -0.99 0.262 N 0.664 0.675 -0.928 0.445 T 0.000 0.000 T . . . 3.034 0.425 22.3 0.996 0.747 0.980 0.785 D c 0.142 0.344 1.000 0.517 0.693 0.558 0 5.52 0.821 7.644 0.824 1.048 0.713 1.000 0.715 1.000 0.888 19.451 0.948 NAD(P)-binding domain . . 0.4516 0.1834 0.3601 0.4897 0.0626 0.5844 0.5948 0.4923 0.2682 0.4448 0.1962 0.4117 0.5132 0.0525 0.5757 0.5974 0.5143 hom 4156.22 145 16 78420775 . G A 4156.22 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=28.66;VQSLOD=8.6874;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4156,319,0 16 81010073 81010073 C T exonic CMC2 nonsynonymous SNV CMC2:NM_020188:exon4:c.G157A:p.V53I 0.4 0.67 0.37 0.45 0.23 0.18 0.2952 0.5944 0.4263 0.4330 0.3306 0.2268 0.2748 0.2 0.34 0.58 0.21 0.43 0.16 rs1127390 . . . . . . . . . . . . . 0.584 0.120 T 0.0 0.026 B 0.001 0.040 B 0.225 0.035 N 1 0.200 P . . . 0.98 0.421 T 0.1 0.103 N 0.069 0.129 -0.960 0.392 T 0.000 0.000 T . . . -0.480 0.057 0.247 0.625 0.068 0.003 0.016 N c -1.361 -1.473 1.000 0.404 0.732 0.924 0 -4.67 0.031 -0.634 0.055 -1.486 0.010 0.000 0.063 0.007 0.100 4.489 0.111 . ENSG00000166451.9|ENSG00000260213.1|ENSG00000260213.1|ENSG00000166451.9|ENSG00000140905.5|ENSG00000166454.5|ENSG00000260213.1 Artery_Aorta|Brain_Caudate_basal_ganglia|Brain_Hippocampus|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Testis 0.2940 0.5964 0.4101 0.1957 0.4289 0.3293 0.2257 0.2693 0.1964 0.3563 0.5791 0.3589 0.1755 0.4028 0.3275 0.2363 0.2892 het 242.45 39 16 81010073 . C T 242.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.115;DP=39;Dels=0.00;FS=1.378;HRun=0;HaplotypeScore=0.9997;MQ=57.90;MQ0=0;MQRankSum=-0.867;QD=6.22;ReadPosRankSum=0.137;VQSLOD=3.4211;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,12:39:99:272,0,633 16 81050965 81050965 A T exonic CENPN nonsynonymous SNV CENPN:NM_001100624:exon4:c.A252T:p.E84D,CENPN:NM_001100625:exon4:c.A252T:p.E84D,CENPN:NM_001270474:exon4:c.A252T:p.E84D,CENPN:NM_018455:exon4:c.A252T:p.E84D 0.98 0.94 1. 1. 1. 1. 0.9950 0.9452 0.9977 1 1 0.9999 0.9989 0.9999 0.98 0.95 1. 0.97 0.98 rs935939 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.320 0.143 N 1.000 0.810 P -2.3 0.001 N 1.98 0.219 T 0.81 0.018 N 0.046 0.035 -0.970 0.372 T 0.000 0.000 T . . . 1.267 0.217 12.10 0.827 0.138 0.028 0.074 N c -0.903 -0.602 1.000 0.747 0.732 0.924 0 5.58 0.843 1.490 0.350 0.117 0.209 1.000 0.715 0.984 0.507 9.899 0.403 . . . 0.9963 0.9454 0.9979 1 1 1 0.9999 0.9989 0.9999 0.9856 0.9496 1 1 1 1 0.9997 0.9990 hom 4989.66 174 16 81050965 . A T 4989.66 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.40;MQ0=0;QD=28.68;VQSLOD=7.7947;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:4989,379,0 16 81056441 81056441 T G exonic CENPN stoploss CENPN:NM_018455:exon7:c.T613G:p.X205E 0.13 0.066 0.14 0.21 0.13 0.15 0.1412 0.0722 0.1938 0.2225 0.1803 0.1263 0.1261 0.1482 0.1 0.067 0.12 0.098 0.11 rs3743503 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . 0.117 0.105 3.795 0.450 0.035 0.052 0.109 N c -1.272 -1.517 0.904 0.261 0.322 0.047 0 -8.33 0.009 -0.048 0.118 -1.427 0.011 0.002 0.151 0.000 0.016 2.288 0.038 . ENSG00000261061.1|ENSG00000261061.1|ENSG00000166451.9|ENSG00000261061.1|ENSG00000261061.1|ENSG00000140905.5|ENSG00000140905.5|ENSG00000166454.5|ENSG00000261061.1|ENSG00000261061.1|ENSG00000261061.1|ENSG00000260213.1|ENSG00000166451.9 Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Testis|Testis|Testis 0.1411 0.0670 0.1790 0.0705 0.2188 0.1754 0.1255 0.1246 0.1502 0.1207 0.0643 0.1492 0.0596 0.2247 0.1794 0.1260 0.1541 het 656.76 65 16 81056441 . T G 656.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.935;DP=65;Dels=0.00;FS=4.043;HRun=0;HaplotypeScore=0.9469;MQ=59.65;MQ0=0;MQRankSum=-0.020;QD=10.10;ReadPosRankSum=-1.342;VQSLOD=6.0578;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,25:65:99:687,0,1060 16 81061827 81061827 G A exonic CENPN nonsynonymous SNV CENPN:NM_001270473:exon9:c.G802A:p.E268K,CENPN:NM_001270474:exon9:c.G760A:p.E254K,CENPN:NM_001100624:exon10:c.G862A:p.E288K,CENPN:NM_001100625:exon10:c.G862A:p.E288K 0.6 0.32 0.64 0.55 0.77 0.82 0.7104 0.3813 0.5769 0.5617 0.6755 0.7796 0.7378 0.8093 0.67 0.4 0.79 0.59 0.79 rs2549887 COSM3999942;COSM3999943;COSM3999944 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.625 0.059 T 0.0 0.067 B 0.003 0.121 B 0.012 0.293 N 1.000 0.189 P 0.38 0.122 N 2.02 0.211 T -0.81 0.223 N 0.041 0.031 -1.025 0.221 T 0.000 0.000 T . . . 0.703 0.161 8.845 0.891 0.179 0.336 0.246 N c -1.225 -1.096 0.082 0.159 0.707 0.730 0 -1.92 0.072 0.056 0.140 -0.932 0.025 0.929 0.320 0.703 0.310 8.592 0.327 . ENSG00000166451.9|ENSG00000260213.1|ENSG00000260213.1|ENSG00000260213.1|ENSG00000166451.9|ENSG00000140905.5|ENSG00000166454.5|ENSG00000260213.1 Artery_Aorta|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Putamen_basal_ganglia|Esophagus_Mucosa|Muscle_Skeletal|Muscle_Skeletal|Testis 0.7100 0.3811 0.5985 0.8089 0.5676 0.6747 0.7812 0.7356 0.8054 0.6395 0.3960 0.6360 0.82 0.5842 0.6761 0.7703 0.7102 het 1266.38 93 16 81061827 . G A 1266.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.951;DP=93;Dels=0.00;FS=1.864;HRun=2;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;MQRankSum=0.088;QD=13.62;ReadPosRankSum=2.889;VQSLOD=5.2099;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,49:93:99:1296,0,1227 16 81061901 81061901 G A exonic CENPN synonymous SNV CENPN:NM_001270473:exon9:c.G876A:p.A292A,CENPN:NM_001270474:exon9:c.G834A:p.A278A,CENPN:NM_001100624:exon10:c.G936A:p.A312A,CENPN:NM_001100625:exon10:c.G936A:p.A312A . . . . . . 8.288e-06 0 8.639e-05 0 0 0 0 0 . . . . . rs777202226 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.129e-06 0 2.98e-05 0 5.798e-05 0 0 0 0 . . . . . . . . het 1399.41 133 16 81061901 . G A 1399.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.946;DP=133;Dels=0.00;FS=1.389;HRun=0;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;MQRankSum=1.107;QD=10.52;ReadPosRankSum=-1.249;VQSLOD=4.6139;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,58:133:99:1429,0,1910 16 81076821 81076821 T C exonic ATMIN nonsynonymous SNV ATMIN:NM_001300728:exon4:c.T250C:p.S84P,ATMIN:NM_015251:exon4:c.T718C:p.S240P 0.1 0.05 0.11 0.2 0.09 0.085 0.0976 0.0523 0.1732 0.2159 0.1242 0.0800 0.0914 0.0719 0.066 0.05 0.074 0.043 0.041 rs2278022 . . . . . . . . . . . . . 0.002 0.721 D 0.003 0.102 B 0.003 0.080 B 0.096 0.201 N 1 0.090 P 2.695 0.791 M 1.38 0.340 T -0.98 0.273 N 0.168 0.222 -1.090 0.056 T 0.000 0.000 T . . . 0.678 0.159 8.685 0.992 0.555 0.793 0.390 D c -0.442 -0.410 0.975 0.295 0.707 0.730 0 3.72 0.417 1.272 0.325 1.061 0.807 0.998 0.411 0.527 0.275 5.786 0.175 Zinc finger\x2c C2H2-like ENSG00000261061.1|ENSG00000140905.5|ENSG00000140905.5|ENSG00000140905.5|ENSG00000261061.1|ENSG00000166451.9|ENSG00000140905.5|ENSG00000261838.1|ENSG00000140905.5|ENSG00000166454.5|ENSG00000140905.5|ENSG00000261061.1|ENSG00000140905.5|ENSG00000260213.1|ENSG00000166451.9|ENSG00000166454.5 Artery_Aorta|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Testis|Testis|Testis|Testis|Thyroid 0.0998 0.0502 0.1584 0.0552 0.2134 0.1210 0.0792 0.0872 0.0731 0.0820 0.0416 0.1232 0.0430 0.2139 0.1231 0.0795 0.0937 het 1598.22 120 16 81076821 . T C 1598.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.200;DP=120;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;MQRankSum=0.072;QD=13.32;ReadPosRankSum=1.347;VQSLOD=6.6869;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,61:120:99:1628,0,1515 16 81077204 81077204 T A exonic ATMIN synonymous SNV ATMIN:NM_001300728:exon4:c.T633A:p.P211P,ATMIN:NM_015251:exon4:c.T1101A:p.P367P 0.055 0.11 0.045 0.001 0.082 0.015 0.0610 0.1054 0.0239 0.0012 0.1065 0.0734 0.0610 0.0235 0.076 0.095 0.067 0.043 0.033 rs16954513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0590 0.1048 0.0279 0.0505 0.0013 0.1033 0.0725 0.0550 0.0251 0.0782 0.0994 0.0323 0.0397 0.0006 0.1054 0.0715 0.0733 het 1465.09 106 16 81077204 . T A 1465.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.993;DP=106;Dels=0.00;FS=5.316;HRun=0;HaplotypeScore=5.4253;MQ=58.85;MQ0=0;MQRankSum=-0.768;QD=13.82;ReadPosRankSum=0.521;VQSLOD=4.4314;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,55:106:99:1495,0,1296 16 81094951 81094951 A G exonic C16orf46 nonsynonymous SNV C16orf46:NM_001100873:exon3:c.T1003C:p.Y335H,C16orf46:NM_152337:exon4:c.T1003C:p.Y335H 0.1 0.039 0.11 0.19 0.093 0.11 0.1022 0.0432 0.1704 0.2147 0.1248 0.0837 0.0947 0.0987 0.065 0.041 0.078 0.033 0.041 rs10459872 . . . . . . . . . . . . . 0.446 0.091 T 0.005 0.119 B 0.011 0.145 B 0.795 0.094 N 1 0.090 P 0.805 0.203 L 2.29 0.171 T -2.14 0.485 N 0.092 0.091 -0.922 0.453 T 0.000 0.000 T . . . -0.821 0.039 0.038 0.434 0.032 0.018 0.055 N c -1.194 -1.148 0.915 0.264 0.653 0.482 0 0.334 0.151 -0.039 0.120 0.220 0.255 0.002 0.151 0.065 0.173 0.931 0.012 . ENSG00000140905.5|ENSG00000140905.5|ENSG00000140905.5|ENSG00000166451.9|ENSG00000140905.5|ENSG00000140905.5|ENSG00000261838.1|ENSG00000140905.5|ENSG00000166454.5|ENSG00000140905.5|ENSG00000261061.1|ENSG00000140905.5|ENSG00000260213.1|ENSG00000166451.9|ENSG00000166454.5 Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Testis|Testis|Testis|Testis|Thyroid 0.1044 0.0410 0.1570 0.0505 0.2136 0.1215 0.0837 0.0884 0.1003 0.0826 0.0341 0.1181 0.0497 0.2177 0.1241 0.0843 0.0988 het 1813.41 129 16 81094951 . A G 1813.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.569;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6443;MQ=59.50;MQ0=0;MQRankSum=0.068;QD=14.06;ReadPosRankSum=-0.271;VQSLOD=6.3120;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,61:129:99:1843,0,1799 16 81095099 81095099 C G exonic C16orf46 synonymous SNV C16orf46:NM_001100873:exon3:c.G855C:p.A285A,C16orf46:NM_152337:exon4:c.G855C:p.A285A 0.11 0.051 0.11 0.19 0.093 0.11 0.1034 0.0534 0.1708 0.2143 0.1247 0.0841 0.0951 0.0987 0.067 0.049 0.077 0.033 0.041 rs2287995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1052 0.0513 0.1574 0.0504 0.2134 0.1216 0.0837 0.0891 0.1003 0.0850 0.0434 0.1196 0.05 0.2146 0.1242 0.0841 0.0971 het 2035.79 151 16 81095099 . C G 2035.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.255;DP=151;Dels=0.00;FS=5.120;HRun=1;HaplotypeScore=2.8786;MQ=59.57;MQ0=0;MQRankSum=-1.158;QD=13.48;ReadPosRankSum=0.535;VQSLOD=4.5082;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,80:151:99:2066,0,1848 16 81095363 81095363 C T exonic C16orf46 synonymous SNV C16orf46:NM_001100873:exon3:c.G591A:p.L197L,C16orf46:NM_152337:exon4:c.G591A:p.L197L 0.72 0.38 0.85 0.73 0.89 0.88 0.8392 0.4562 0.8046 0.7166 0.8364 0.9066 0.8488 0.8956 0.77 0.48 0.92 0.77 0.91 rs804885 COSM3999946;COSM3999945 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8458 0.4527 0.8160 0.9089 0.7224 0.8357 0.9094 0.8763 0.8933 0.7618 0.4701 0.8473 0.9040 0.7178 0.8360 0.9044 0.8622 het 2137.06 132 16 81095363 . C T 2137.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.399;DP=132;Dels=0.00;FS=8.422;HRun=0;HaplotypeScore=3.5346;MQ=59.83;MQ0=0;MQRankSum=-0.164;QD=16.19;ReadPosRankSum=-0.539;VQSLOD=4.4590;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,78:132:99:2167,0,1626 16 81124275 81124275 G A exonic GCSH synonymous SNV GCSH:NM_004483:exon2:c.C159T:p.F53F 0.035 0.039 0.036 0.001 0.085 0.014 0.0551 0.0416 0.0232 0.0012 0.1096 0.0721 0.0618 0.0233 0.057 0.04 0.066 0.011 0.041 rs8177876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0542 0.0391 0.0268 0.0299 0.0013 0.1059 0.0726 0.0529 0.0248 0.0597 0.0322 0.0286 0.0364 0.0006 0.1057 0.0731 0.0675 het 1632.57 135 16 81124275 . G A 1632.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.332;DP=135;Dels=0.00;FS=0.660;HRun=2;HaplotypeScore=1.9970;MQ=59.27;MQ0=0;MQRankSum=0.337;QD=12.09;ReadPosRankSum=-1.168;VQSLOD=6.3299;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,67:135:99:1663,0,1761 16 81134860 81134860 C G exonic PKD1L2 unknown UNKNOWN 0.015 0.0008 0.025 . 0.049 0.0092 0.0310 0.0076 0.0125 0.0002 0.0609 0.0431 0.0303 0.0131 0.029 0.0084 0.039 . . rs117677929 . . . . . . . . . . . . . . . . 1.0 0.899 D 0.999 0.916 D . . . . . . . . . . . . . . . 0.535 0.574 . . . . . . . . . 1.314 0.222 12.34 0.846 0.149 0.846 0.434 D n 1.077 0.009 0.445 0.205 0.162 0.029 0 2.87 0.324 0.039 0.137 0.848 0.348 0.973 0.343 0.646 0.298 8.944 0.347 . ENSG00000140905.5|ENSG00000261838.1|ENSG00000140905.5|ENSG00000166454.5|ENSG00000140905.5 Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial 0.0299 0.0069 0.0144 0.0191 0.0002 0.0544 0.0431 0.0272 0.0132 0.0328 0.0076 0.0191 0.0364 0 0.0578 0.0454 0.0397 het 323.68 35 16 81134860 . C G 323.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.033;DP=35;Dels=0.00;FS=3.643;HRun=1;HaplotypeScore=1.9559;MQ=60.00;MQ0=0;MQRankSum=0.712;QD=9.25;ReadPosRankSum=-0.330;VQSLOD=5.1777;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,12:35:99:354,0,620 16 81145807 81145807 C G exonic PKD1L2 unknown UNKNOWN 0.84 0.73 0.9 0.8 0.99 0.82 0.9207 0.7502 0.8365 0.7827 0.9838 0.9929 0.9287 0.8355 0.92 0.76 0.99 0.86 . rs8054182 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.812 0.801 . . . . . . . . . -2.081 0.007 0.001 0.372 0.024 0.008 0.032 N n -0.001 -0.159 0.000 0.066 0.162 0.029 0 1.1 0.195 0.137 0.157 -1.567 0.009 0.022 0.197 0.002 0.062 1.935 0.031 Polycystin cation channel\x2c PKD1/PKD2 . . 0.9233 0.7503 0.8561 0.9657 0.7853 0.9840 0.9950 0.9419 0.8387 0.9119 0.7608 0.8926 0.9702 0.7761 0.9843 0.9943 0.9570 hom 8320.85 249 16 81145807 . C G 8320.85 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.0673;MQ=59.55;MQ0=0;QD=33.42;VQSLOD=7.1797;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8320,638,0 16 81145976 81145976 C T exonic PKD1L2 unknown UNKNOWN 0.01 0.0008 0.022 . 0.034 0.001 0.0231 0.0065 0.0103 0.0002 0.0350 0.0344 0.0243 0.0032 0.023 0.0075 0.03 . . rs145784865 . . . . . . . . . . . . . . . . 0.601 0.375 P 0.403 0.428 B . . . . . . . . . . . . . . . 0.188 0.230 . . . . . . . . . 0.596 0.151 8.128 0.381 0.025 0.082 0.140 N n 0.132 -0.154 0.000 0.070 0.162 0.029 0 -1.44 0.083 -0.338 0.078 0.068 0.175 0.000 0.063 0.172 0.211 4.427 0.109 Polycystin cation channel\x2c PKD1/PKD2 ENSG00000261838.1|ENSG00000140905.5|ENSG00000166454.5 Lung|Muscle_Skeletal|Muscle_Skeletal 0.0218 0.0056 0.0117 0.0158 0.0002 0.0318 0.0342 0.0201 0.0034 0.0246 0.0063 0.0143 0.0265 0 0.0346 0.0354 0.0346 het 920.22 75 16 81145976 . C T 920.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.303;DP=75;Dels=0.00;FS=2.100;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.382;QD=12.27;ReadPosRankSum=0.072;VQSLOD=4.8730;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,34:75:99:950,0,1217 16 81151122 81151122 A C exonic PKD1L2 unknown UNKNOWN 0.99 0.95 1. 1. 1. 1. 0.9956 0.9500 0.9978 1 1 0.9999 0.9978 0.9999 0.99 0.96 1. 0.97 . rs4889238 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.663 0.674 . . . . . . . . . 0.242 0.117 5.113 0.764 0.111 0.028 0.075 N n 0.541 -0.071 0.011 0.122 0.078 0.016 0 2.75 0.313 1.981 0.400 -0.874 0.028 0.931 0.321 0.930 0.404 9.993 0.409 Polycystin cation channel\x2c PKD1/PKD2 . . 0.9965 0.9500 0.9979 1 1 1 0.9999 0.9989 0.9999 0.9863 0.9520 0.9988 1 1 1 0.9998 0.9990 hom 7529.60 236 16 81151122 . A C 7529.60 Mask AC=2;AF=1.00;AN=2;DP=236;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5315;MQ=59.15;MQ0=0;QD=31.91;VQSLOD=9.1033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,236:236:99:7529,605,0 16 81151123 81151123 C G exonic PKD1L2 unknown UNKNOWN 0.012 0.0008 0.013 . 0.043 0.0061 0.0298 0.0074 0.0104 0.0001 0.0622 0.0418 0.0338 0.0100 0.0003 . 0.0005 . . rs189163196 COSN229014 1(central_nervous_system) . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B . . . . . . . . . . . . . . . 0.373 0.434 . . . . . . . . . 1.550 0.248 13.58 0.740 0.102 0.927 0.561 D n 0.968 -0.017 0.006 0.111 0.078 0.016 0 2.5 0.292 1.054 0.299 0.935 0.490 0.975 0.345 0.970 0.461 5.897 0.181 Polycystin cation channel\x2c PKD1/PKD2 ENSG00000261838.1|ENSG00000166454.5 Lung|Muscle_Skeletal 0.0284 0.0066 0.0112 0.0193 5.821e-05 0.0556 0.0413 0.0261 0.0101 0.0316 0.0071 0.0155 0.0364 0 0.0590 0.0432 0.0387 het 3055.43 233 16 81151123 . C G 3055.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.268;DP=233;DS;Dels=0.00;FS=1.017;HRun=0;HaplotypeScore=2.5315;MQ=59.14;MQ0=0;MQRankSum=1.505;QD=13.11;ReadPosRankSum=1.098;VQSLOD=5.5876;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:114,119:233:99:3085,0,3148 16 81157324 81157324 G A exonic PKD1L2 unknown UNKNOWN 0.87 0.7 0.96 0.94 0.98 0.87 0.9407 0.7188 0.9744 0.9271 0.9619 0.9800 0.9521 0.8885 0.9 0.75 0.98 0.86 . rs4889241 COSN8992356 1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.942 0.937 . . . . . . . . . 3.007 0.422 22.3 0.965 0.293 0.074 0.132 N n 1.734 1.281 1.000 0.747 0.162 0.029 0 5.17 0.707 7.107 0.765 0.232 0.259 1.000 0.715 0.997 0.653 11.123 0.473 Polycystin cation channel\x2c PKD1/PKD2 . . 0.9466 0.7106 0.9748 0.9764 0.9294 0.9644 0.9807 0.9588 0.8945 0.9016 0.7212 0.9749 0.9834 0.9414 0.9630 0.9799 0.9356 hom 5672.84 182 16 81157324 . G A 5672.84 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9906;MQ=59.43;MQ0=0;QD=31.17;VQSLOD=8.7181;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5672,448,0 16 81157353 81157353 G A exonic PKD1L2 unknown UNKNOWN 0.066 0.043 0.12 0.049 0.05 0.093 0.0573 0.0341 0.1158 0.0473 0.0945 0.0442 0.0557 0.0738 0.038 0.029 0.042 0.054 . rs16954698 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0627 0.0347 0.1152 0.0476 0.0427 0.1050 0.0440 0.0562 0.0736 0.0554 0.0363 0.1110 0.0464 0.0414 0.0976 0.0547 0.0662 het 2266.18 165 16 81157353 . G A 2266.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DP=165;Dels=0.00;FS=1.253;HRun=0;HaplotypeScore=2.6939;MQ=59.10;MQ0=0;MQRankSum=-0.904;QD=13.73;ReadPosRankSum=-0.433;VQSLOD=6.2742;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:76,89:165:99:2296,0,1962 16 81157385 81157385 G T exonic PKD1L2 unknown UNKNOWN 0.23 0.19 0.19 0.38 0.18 0.21 0.1893 0.1706 0.2437 0.3694 0.1854 0.1522 0.1971 0.2195 0.16 0.17 0.15 0.18 . rs8050204 COSN20281277;COSN19624155 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.988 0.604 D 0.863 0.596 P . . . . . . . . . . . . . . . 0.147 0.174 . . . . . . . . . 2.742 0.391 21.0 0.994 0.614 0.976 0.754 D n 1.536 1.245 1.000 0.500 0.263 0.038 0 4.21 0.488 5.794 0.685 0.131 0.216 1.000 0.715 0.027 0.143 14.076 0.643 Polycystin cation channel\x2c PKD1/PKD2 . . 0.1917 0.1686 0.2303 0.1790 0.3746 0.1840 0.1503 0.1810 0.2204 0.1728 0.1701 0.2333 0.2053 0.3688 0.1875 0.1463 0.1633 het 1471.69 128 16 81157385 . G T 1471.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.598;DP=128;Dels=0.00;FS=3.411;HRun=0;HaplotypeScore=2.8266;MQ=58.95;MQ0=0;MQRankSum=1.678;QD=11.50;ReadPosRankSum=0.414;VQSLOD=5.9775;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,58:128:99:1502,0,1958 16 81161473 81161473 - TACTGCCAAGCCTGGGGAAAGC exonic PKD1L2 unknown UNKNOWN . . . . . . 0.1584 0.1212 0.2168 0.3272 0.1719 0.1291 0.1756 0.1678 . . . . . rs371382430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1579 0.1288 0.2220 0.1987 0.3584 0.1868 0.1424 0.1537 het 3190.49 56 16 81161473 . G GTACTGCCAAGCCTGGGGAAAGC 3190.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.505;DP=56;FS=11.685;HRun=0;HaplotypeScore=804.9637;MQ=53.61;MQ0=0;MQRankSum=-4.187;QD=56.97;ReadPosRankSum=0.146;set=variant2 GT:AD:DP:GQ:PL 0/1:49,3:56:99:3230,0,4842 16 81161578 81161578 G A exonic PKD1L2 unknown UNKNOWN 0.4 0.41 0.33 0.54 0.34 0.33 0.3524 0.3864 0.3745 0.5296 0.3771 0.3204 0.3814 0.3447 0.32 0.36 0.31 0.4 . rs7206183 COSN8992357 1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.047 0.439 . . . . . . . . . -0.011 0.093 2.487 0.108 0.001 0.006 0.027 N n 0.709 -0.015 0.998 0.356 0.162 0.029 0 3.83 0.431 6.668 0.741 0.236 0.261 1.000 0.715 0.005 0.090 9.462 0.378 Polycystin cation channel\x2c PKD1/PKD2 . . 0.3332 0.3674 0.3522 0.3116 0.5351 0.3525 0.2972 0.3278 0.3100 0.3503 0.3699 0.3633 0.3709 0.515 0.3615 0.3190 0.3292 hom 1377.65 44 16 81161578 . G A 1377.65 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9803;MQ=54.47;MQ0=0;QD=31.31;VQSLOD=3.5369;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1411,111,0 16 81173136 81173136 T C exonic PKD1L2 unknown UNKNOWN 0.95 0.94 0.93 0.93 0.96 0.97 0.9557 0.9396 0.9267 0.9306 0.9038 0.9620 0.9485 0.9753 0.96 0.94 0.96 0.94 . rs12918619 COSN6647531 1(liver) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.009 0.196 . . . . . . . . . -0.821 0.039 0.038 0.388 0.026 0.455 0.273 N n 1.105 0.386 1.000 0.500 0.208 0.033 0 3.21 0.358 1.145 0.310 -0.896 0.027 0.965 0.337 0.531 0.276 5.423 0.156 . . . 0.9496 0.9389 0.9243 0.9966 0.9315 0.9115 0.9589 0.9512 0.9732 0.9443 0.9417 0.9236 0.9934 0.9387 0.9042 0.9566 0.9356 hom 333.07 13 16 81173136 . T C 333.07 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=25.62;VQSLOD=7.8185;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:33.06:366,33,0 16 81180988 81180988 C G exonic PKD1L2 unknown UNKNOWN 0.28 0.16 0.26 0.15 0.5 0.34 0.4258 0.2101 0.1952 0.1578 0.4827 0.5425 0.4087 0.3614 0.44 0.22 0.54 0.25 . rs7194136 COSM3999947 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.079 0.230 B 0.035 0.214 B . . . . . . . . . . . . . . . 0.099 0.412 . . . . . . . . . 1.947 0.295 15.88 0.963 0.288 0.837 0.425 D n 0.882 -0.025 0.002 0.090 0.078 0.016 0 3.48 0.388 0.083 0.146 0.935 0.490 0.965 0.337 0.044 0.160 8.684 0.332 . . . 0.4205 0.2064 0.2142 0.5541 0.1656 0.4897 0.5420 0.4496 0.3559 0.4136 0.2100 0.2715 0.5497 0.1962 0.4802 0.5414 0.4714 het 3226.07 218 16 81180988 . C G 3226.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.062;DP=218;DS;Dels=0.00;FS=1.723;HRun=0;HaplotypeScore=3.7687;MQ=59.20;MQ0=0;MQRankSum=0.226;QD=14.80;ReadPosRankSum=0.530;VQSLOD=5.9160;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:98,120:218:99:3257,0,2679 16 81181097 81181097 G T exonic PKD1L2 unknown UNKNOWN 0.15 0.079 0.2 0.21 0.073 0.23 0.1219 0.0690 0.2679 0.2373 0.0798 0.0725 0.1342 0.2071 0.065 0.064 0.065 0.16 . rs7192948 COSM4416028 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 1.0 0.899 D 0.957 0.682 D . . . . . . . . . . . . . . . 0.174 0.521 . . . . . . . . . 2.660 0.381 20.6 0.987 0.451 0.910 0.525 D n 0.597 -0.061 0.001 0.078 0.078 0.016 0 1.34 0.209 3.772 0.548 0.097 0.197 1.000 0.715 0.050 0.164 7.366 0.258 . . . 0.1264 0.0685 0.2527 0.0973 0.2330 0.0807 0.0696 0.1140 0.2091 0.0836 0.0713 0.2208 0.0993 0.2234 0.0870 0.0670 0.0837 het 865.44 70 16 81181097 . G T 865.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.827;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=0.582;QD=12.36;ReadPosRankSum=0.100;VQSLOD=6.3233;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:895,0,1015 16 81183325 81183325 T A exonic PKD1L2 unknown UNKNOWN 0.16 0.093 0.21 0.23 0.083 0.23 0.1335 0.0882 0.2844 0.2423 0.0815 0.0826 0.1445 0.2296 0.073 0.074 0.073 0.16 . rs59980974 COSM5438555 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11.758 0.977 38 0.996 0.751 0.906 0.516 D n 1.202 0.048 0.012 0.123 0.078 0.016 0 2.07 0.259 3.757 0.547 0.037 0.153 1.000 0.715 0.986 0.517 11.054 0.469 . . . 0.1322 0.0840 0.2633 0.1072 0.2373 0.0812 0.0773 0.1228 0.2118 0.0928 0.0873 0.2315 0.1093 0.2268 0.0873 0.0752 0.0878 het 568.96 41 16 81183325 . T A 568.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.111;DP=41;Dels=0.00;FS=6.658;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=1.529;QD=13.88;ReadPosRankSum=-0.510;VQSLOD=4.8193;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,22:41:99:599,0,514 16 81190601 81190601 T C exonic PKD1L2 unknown UNKNOWN 0.97 0.93 0.98 1. 0.97 0.99 0.9739 0.9329 0.9875 1 0.9842 0.9693 0.9753 0.9897 0.98 0.99 0.97 0.88 . rs1453325 COSM4129391 1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.038 0.019 . . . . . . . . . -0.851 0.038 0.033 0.282 0.014 0.116 0.166 N n 0.604 -0.058 0.013 0.125 0.078 0.016 0 2.93 0.329 3.859 0.555 0.060 0.166 0.998 0.411 0.770 0.327 9.979 0.408 GPS motif . . 0.9757 0.9329 0.9860 0.9806 1 0.9850 0.9684 0.9747 0.9902 0.9642 0.9375 0.9940 0.9901 1 0.9865 0.9677 0.9764 hom 1196.34 41 16 81190601 . T C 1196.34 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=29.18;VQSLOD=8.1985;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1229,108,0 16 81190613 81190613 A G exonic PKD1L2 unknown UNKNOWN 0.77 0.67 0.74 0.7 0.86 0.89 0.8379 0.7105 0.6894 0.7356 0.8422 0.8821 0.8442 0.8858 0.83 0.73 0.88 0.65 . rs1453324 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . . . . . . . . . . 0.073 0.446 . . . . . . . . . 1.769 0.274 14.81 0.318 0.018 0.108 0.160 N n 1.410 0.078 0.996 0.344 0.078 0.016 0 4.88 0.630 7.687 0.833 0.128 0.215 1.000 0.715 0.998 0.697 13.383 0.601 GPS motif . . 0.8326 0.7044 0.6958 0.8892 0.7362 0.8395 0.8847 0.8402 0.8848 0.8131 0.7016 0.7566 0.9106 0.7351 0.8423 0.8782 0.8494 hom 1125.58 32 16 81190613 . A G 1125.58 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=35.17;VQSLOD=9.2056;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:90.28:1159,90,0 16 81193321 81193321 C T exonic PKD1L2 unknown UNKNOWN 0.17 0.072 0.15 0.23 0.25 0.18 0.2373 0.1139 0.1459 0.2269 0.2338 0.2757 0.2580 0.2099 0.2 0.1 0.24 0.11 . rs72628271 COSM5425049 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.176 0.272 B 0.019 0.176 B . . . . . . . . . . . . . . . 0.047 0.364 . . . . . . . . . 0.695 0.160 8.797 0.832 0.141 0.038 0.090 N n 0.167 -0.155 0.118 0.168 0.078 0.016 0 -4.42 0.033 -1.046 0.036 -0.909 0.026 0.000 0.063 0.004 0.083 2.782 0.050 . ENSG00000166473.12 Artery_Tibial 0.2093 0.0961 0.1272 0.3315 0.2069 0.2120 0.2438 0.2236 0.1869 0.1989 0.1059 0.1615 0.3444 0.2083 0.2047 0.2473 0.2388 hom 1013.26 29 16 81193321 . C T 1013.26 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=34.94;VQSLOD=9.4523;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:84.26:1046,84,0 16 81194382 81194382 T C exonic PKD1L2 unknown UNKNOWN 0.66 0.47 0.7 0.62 0.85 0.75 0.7889 0.5190 0.7173 0.6043 0.8804 0.8641 0.7825 0.7525 0.8 0.56 0.92 0.56 . rs2317117 COSM4129393 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7916 0.5136 0.7282 0.8470 0.5986 0.8828 0.8650 0.7969 0.7555 0.7525 0.5181 0.7273 0.8444 0.5784 0.8792 0.8729 0.8194 hom 1971.89 63 16 81194382 . T C 1971.89 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.30;VQSLOD=13.8881;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2005,165,0 16 81209234 81209234 C T exonic PKD1L2 synonymous SNV PKD1L2:NM_001278423:exon4:c.G504A:p.T168T,PKD1L2:NM_001076780:exon15:c.G2559A:p.T853T 0.2 0.24 0.2 0.31 0.096 0.15 0.1388 0.2235 0.1935 0.2977 0.1234 0.0979 0.1567 0.1381 0.13 0.2 0.094 0.2 0.098 rs935933 COSM3755103;COSM3755102;COSM3755105;COSM3755104 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1414 0.2261 0.1953 0.1240 0.2947 0.1300 0.0950 0.1369 0.1381 0.1457 0.2197 0.1921 0.0894 0.2952 0.1251 0.0920 0.1161 het 1557.18 118 16 81209234 . C T 1557.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.792;DP=118;Dels=0.00;FS=0.707;HRun=0;HaplotypeScore=2.8561;MQ=58.21;MQ0=0;MQRankSum=-0.226;QD=13.20;ReadPosRankSum=0.657;VQSLOD=5.6249;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,61:118:99:1587,0,1516 16 81209247 81209247 C T exonic PKD1L2 nonsynonymous SNV PKD1L2:NM_001278423:exon4:c.G491A:p.R164H,PKD1L2:NM_001076780:exon15:c.G2546A:p.R849H 0.015 0.0015 0.02 . 0.036 0.025 0.0277 0.0055 0.0123 0.0002 0.0278 0.0375 0.0333 0.0257 0.027 0.0076 0.036 0.033 0.033 rs1869349 COSM329530;COSM329531;COSM329529;COSM3691195 1(haematopoietic_and_lymphoid_tissue);1(soft_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.002 0.158 B 0.002 0.121 B 0.211 0.034 N 1 0.090 N . . . -0.39 0.692 T -1.45 0.379 N 0.167 0.431 -1.037 0.183 T 0.040 0.172 T . . . 0.552 0.147 7.819 0.848 0.150 0.003 0.016 N c -1.658 -1.795 1.000 0.747 0.615 0.352 0 -8.12 0.009 -2.466 0.011 -1.516 0.010 0.000 0.063 0.028 0.145 4.58 0.116 C-type lectin|C-type lectin fold|C-type lectin-like;D-galactoside/L-rhamnose binding SUEL lectin domain;PKD/REJ-like domain|REJ domain . . 0.0274 0.0054 0.0150 0.0424 0.0002 0.0278 0.0368 0.0340 0.0263 0.0237 0.0065 0.0167 0.0298 0 0.0306 0.0345 0.0305 het 1724.65 130 16 81209247 . C T 1724.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.177;DP=130;Dels=0.00;FS=2.306;HRun=0;HaplotypeScore=1.9448;MQ=58.38;MQ0=0;MQRankSum=1.669;QD=13.27;ReadPosRankSum=1.693;VQSLOD=5.3063;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,66:130:99:1755,0,1622 16 81213378 81213378 A G exonic PKD1L2 nonsynonymous SNV PKD1L2:NM_001278423:exon2:c.T77C:p.L26P,PKD1L2:NM_001076780:exon13:c.T2132C:p.L711P 0.8 0.69 0.82 0.96 0.83 0.73 0.8196 0.7137 0.7909 0.9624 0.8566 0.8344 0.8478 0.7519 0.8 0.73 0.83 0.75 0.85 rs4889261 COSM4129398;COSM4129397;COSM4129395;COSM4129396 1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.004 0.348 N 0.001 0.469 P . . . 2.73 0.694 T 4.51 0.000 N 0.379 0.536 -0.941 0.426 T 0.000 0.000 T . . . 1.506 0.243 13.35 0.118 0.002 0.012 0.042 N c -0.664 -0.538 0.999 0.376 0.615 0.352 0 5.02 0.666 3.753 0.546 0.138 0.222 0.999 0.424 0.017 0.128 10.907 0.461 C-type lectin fold|C-type lectin-like;PKD/REJ-like domain|REJ domain ENSG00000166473.12|ENSG00000166473.12 Heart_Atrial_Appendage|Heart_Left_Ventricle 0.8208 0.7144 0.7945 0.8222 0.9641 0.8569 0.8332 0.8166 0.7509 0.8098 0.7233 0.7971 0.8179 0.9698 0.8545 0.8326 0.8136 hom 1430.42 44 16 81213378 . A G 1430.42 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=32.51;VQSLOD=10.0151;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1463,120,0 16 81232275 81232275 G A exonic PKD1L2 nonsynonymous SNV PKD1L2:NM_001076780:exon7:c.C1535T:p.P512L 0.76 0.63 0.78 0.95 0.78 0.7 0.7877 0.6417 0.8012 0.9566 0.8281 0.7948 0.8150 0.7296 0.75 0.66 0.79 0.73 0.71 rs7205673 . . . . . . . . . . . . . . . . 1.0 0.899 D 0.947 0.667 D 0.029 0.255 N 0.397 0.325 P . . . 4.95 0.014 T -5.15 0.833 D 0.215 0.472 -1.047 0.151 T 0.000 0.000 T . . . 4.114 0.552 23.8 0.998 0.887 0.909 0.521 D c 0.340 0.283 0.990 0.319 0.556 0.300 0 5.08 0.682 1.656 0.367 1.038 0.658 0.965 0.337 0.094 0.187 14.122 0.646 REJ domain ENSG00000166473.12 Heart_Atrial_Appendage 0.7901 0.6435 0.7955 0.7871 0.9580 0.8287 0.7938 0.7871 0.7230 0.7691 0.6596 0.7936 0.7947 0.9684 0.8329 0.7940 0.7786 hom 2569.58 79 16 81232275 . G A 2569.58 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.16;MQ0=0;QD=32.53;VQSLOD=9.3173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2603,202,0 16 81232564 81232564 T G exonic PKD1L2 nonsynonymous SNV PKD1L2:NM_001076780:exon7:c.A1246C:p.K416Q 0.79 0.72 0.79 0.95 0.79 0.7 0.7965 0.7212 0.8035 0.9593 0.8294 0.7989 0.82 0.7275 0.78 0.74 0.8 0.8 0.81 rs7194871 . . . . . . . . . . . . . . . . 0.002 0.102 B 0.002 0.080 B 0.581 0.111 N 1 0.090 P . . . 5.1 0.013 T 0.19 0.050 N 0.201 0.246 -1.003 0.292 T 0.000 0.000 T . . . -1.488 0.017 0.003 0.712 0.093 0.023 0.066 N c -1.150 -1.145 0.776 0.237 0.526 0.212 0 2.15 0.265 0.505 0.222 -0.382 0.065 0.059 0.215 0.005 0.090 9.262 0.366 . ENSG00000166473.12 Heart_Atrial_Appendage 0.7987 0.7237 0.7993 0.7924 0.9609 0.8298 0.7980 0.7937 0.7268 0.7937 0.7370 0.8002 0.7980 0.9691 0.8352 0.7982 0.7832 hom 5543.44 168 16 81232564 . T G 5543.44 Mask AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6054;MQ=59.10;MQ0=0;QD=33.00;VQSLOD=8.2085;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,168:168:99:5543,424,0 16 81241098 81241098 C T exonic PKD1L2 synonymous SNV PKD1L2:NM_001076780:exon5:c.G903A:p.P301P 0.7 0.46 0.74 0.88 0.85 0.66 0.7912 0.5100 0.7468 0.8680 0.8810 0.8487 0.8315 0.6777 0.74 0.53 0.84 0.25 0.75 rs11150369 COSM3932458;COSM3932457 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7972 0.5064 0.7477 0.8146 0.8716 0.8842 0.8484 0.8067 0.6746 0.7567 0.5145 0.7416 0.8046 0.8628 0.8839 0.8525 0.8094 hom 4560.68 143 16 81241098 . C T 4560.68 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5461;MQ=59.23;MQ0=0;QD=31.89;VQSLOD=8.5835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:143:99:4560,388,0 16 81242194 81242194 T C exonic PKD1L2 nonsynonymous SNV PKD1L2:NM_001076780:exon4:c.A662G:p.E221G 0.73 0.57 0.74 0.88 0.85 0.66 0.7986 0.6170 0.7506 0.8680 0.8806 0.8473 0.8330 0.6722 0.77 0.63 0.84 0.72 0.87 rs6564838 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 0.974 0.255 P . . . 2.53 0.140 T 4.52 0.000 N 0.231 0.283 -0.975 0.362 T 0.000 0.000 T . . . 0.850 0.175 9.770 0.156 0.004 0.034 0.085 N c -0.644 -0.498 0.020 0.133 0.487 0.133 0 4.31 0.505 4.317 0.587 0.040 0.155 1.000 0.715 0.998 0.697 11.984 0.522 D-galactoside/L-rhamnose binding SUEL lectin domain . . 0.7999 0.6130 0.7492 0.8050 0.8719 0.8836 0.8472 0.8126 0.6726 0.7887 0.6282 0.7416 0.7980 0.8631 0.8844 0.8525 0.8133 hom 5035.45 152 16 81242194 . T C 5035.45 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.3117;MQ=59.09;MQ0=0;QD=33.13;VQSLOD=9.3881;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:5035,394,0 16 81242198 81242198 G A exonic PKD1L2 stopgain PKD1L2:NM_001076780:exon4:c.C658T:p.Q220X 0.16 0.092 0.23 0.003 0.38 0.14 0.2809 0.1350 0.1687 0.0029 0.3368 0.3839 0.3051 0.1502 0.29 0.14 0.36 0.14 0.43 rs7499011 . . . . . . . . . . . . . . . . . . . . . . 0.000 0.629 D 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 11.001 0.971 37 0.999 0.943 0.979 0.781 D c 0.933 0.731 0.969 0.291 0.487 0.133 0 4.31 0.505 7.475 0.799 0.998 0.613 1.000 0.715 0.999 0.750 16.402 0.834 D-galactoside/L-rhamnose binding SUEL lectin domain . . 0.2784 0.1308 0.187 0.3744 0.0029 0.3512 0.3789 0.3294 0.1505 0.2738 0.1285 0.2225 0.3467 0.0049 0.3431 0.3700 0.3153 hom 4857.74 143 16 81242198 . G A 4857.74 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5760;MQ=59.19;MQ0=0;QD=33.97;VQSLOD=8.7127;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4857,376,0 16 81249927 81249927 C T exonic PKD1L2 nonsynonymous SNV PKD1L2:NM_001076780:exon2:c.G386A:p.G129D 0.15 0.06 0.22 0.0089 0.36 0.15 0.2632 0.1067 0.1590 0.0064 0.2823 0.3628 0.2817 0.1522 0.27 0.12 0.35 0.11 0.35 rs7185774 COSM5618507;COSM5618506 1(breast) . . . . . . . . . . . . . . 0.998 0.715 D 0.939 0.667 D 0.795 0.094 N 0.171 0.349 P . . . 2.2 0.186 T -3.81 0.718 D 0.495 0.541 -1.003 0.290 T 0.000 0.000 T . . . 5.253 0.710 25.6 0.998 0.904 0.976 0.755 D c 0.449 0.389 1.000 0.517 0.497 0.185 0 5.09 0.685 4.282 0.585 0.932 0.445 1.000 0.715 0.069 0.175 18.583 0.911 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.2602 0.1058 0.1746 0.3741 0.0059 0.2944 0.3568 0.3117 0.1524 0.2491 0.1049 0.2093 0.3510 0.0068 0.2865 0.3489 0.2791 hom 4266.85 141 16 81249927 . C T 4266.85 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59.67;MQ0=0;QD=30.26;VQSLOD=8.1277;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4266,352,0 16 81249954 81249954 T A exonic PKD1L2 nonsynonymous SNV PKD1L2:NM_001076780:exon2:c.A359T:p.Q120L 0.47 0.35 0.55 0.44 0.65 0.41 0.5513 0.4159 0.4575 0.4117 0.5978 0.6326 0.5991 0.4205 0.58 0.46 0.63 0.4 0.57 rs7191351 . . . . . . . . . . . . . . . . 0.763 0.417 P 0.463 0.447 P 0.088 0.205 N 1 0.090 P . . . 2.1 0.200 T -3.88 0.727 D 0.442 0.496 -0.995 0.313 T 0.000 0.000 T . . . 2.014 0.303 16.30 0.949 0.252 0.486 0.280 N c -0.589 -0.688 0.002 0.095 0.497 0.185 0 1.37 0.211 1.176 0.314 0.127 0.214 0.631 0.278 0.006 0.095 7.888 0.287 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.5518 0.4189 0.4740 0.5911 0.4163 0.6022 0.6355 0.5915 0.4189 0.5554 0.4237 0.5287 0.5762 0.4052 0.5944 0.6389 0.5767 hom 3785.61 124 16 81249954 . T A 3785.61 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8482;MQ=59.63;MQ0=0;QD=30.53;VQSLOD=8.3335;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3785,298,0 16 81253759 81253759 A G exonic PKD1L2 nonsynonymous SNV PKD1L2:NM_001076780:exon1:c.T217C:p.W73R 0.53 0.6 0.56 0.44 0.65 0.41 0.5679 0.6192 0.4633 0.4074 0.5957 0.6324 0.6044 0.4209 0.64 0.64 0.63 0.55 0.64 rs9924371 COSM5425323;COSM5425322 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.200 0.166 N 1 0.090 P . . . 2.33 0.165 T 2.4 0.003 N 0.347 0.408 -0.983 0.342 T 0.000 0.000 T . . . -1.306 0.022 0.004 0.202 0.007 0.059 0.118 N c -1.113 -1.108 0.296 0.191 0.570 0.322 0 -0.109 0.129 0.427 0.209 -0.229 0.095 0.987 0.361 0.736 0.318 0.212 0.001 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.5651 0.6177 0.4819 0.5940 0.4116 0.6007 0.6355 0.5959 0.4200 0.6106 0.6176 0.5418 0.5894 0.4020 0.5944 0.6387 0.5861 hom 6415.26 205 16 81253759 . A G 6415.26 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1295;MQ=59.21;MQ0=0;QD=31.29;VQSLOD=7.2059;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6414,521,0 16 81253917 81253917 A G exonic PKD1L2 nonsynonymous SNV PKD1L2:NM_001076780:exon1:c.T59C:p.V20A 0.54 0.6 0.56 0.44 0.65 0.41 0.5683 0.6218 0.4638 0.4079 0.5955 0.6323 0.6058 0.4212 0.64 0.65 0.63 0.54 0.64 rs9924530 COSM5654322;COSM5654323 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.049 0.232 N 1 0.090 P . . . 2.36 0.161 T 1.49 0.007 N 0.154 0.184 -0.936 0.432 T 0.000 0.000 T . . . -1.629 0.014 0.002 0.117 0.002 0.001 0.009 N c -1.127 -1.135 0.904 0.261 0.497 0.185 0 3.22 0.359 1.180 0.314 0.138 0.222 0.014 0.188 0.001 0.043 3.362 0.067 C-type lectin fold|C-type lectin-like . . 0.5648 0.6177 0.4819 0.5938 0.4111 0.6005 0.6355 0.5962 0.4201 0.6109 0.6183 0.5420 0.5894 0.4002 0.5944 0.6390 0.5857 hom 5082.27 155 16 81253917 . A G 5082.27 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.79;MQ0=0;QD=32.79;VQSLOD=9.8832;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:5082,394,0 16 81819768 81819768 T C exonic PLCG2 synonymous SNV PLCG2:NM_002661:exon2:c.T174C:p.A58A 0.73 0.64 0.73 0.86 0.69 0.78 0.7248 0.6384 0.7856 0.8731 0.7523 0.6944 0.7270 0.7675 0.67 0.63 0.69 0.74 0.66 rs1143685 . . Benign not_specified RCV000455823.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7272 0.6405 0.7791 0.6819 0.8767 0.7512 0.6891 0.7132 0.7675 0.6846 0.6496 0.7566 0.6589 0.8813 0.7388 0.6671 0.6898 hom 827.16 30 16 81819768 . T C 827.16 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8245;MQ=59.38;MQ0=0;QD=27.57;VQSLOD=7.5168;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:75.19:860,75,0 16 81888152 81888152 A G exonic PLCG2 synonymous SNV PLCG2:NM_002661:exon3:c.A297G:p.L99L 0.21 0.14 0.29 0.062 0.31 0.31 0.2752 0.1560 0.2711 0.0694 0.3181 0.3172 0.2967 0.2688 0.26 0.16 0.31 0.098 0.29 rs1143686 COSM4416834;COSM4416833 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454740.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2775 0.1530 0.2672 0.3276 0.0669 0.3196 0.3193 0.2932 0.2677 0.2652 0.1688 0.2859 0.3179 0.0760 0.3166 0.3263 0.2847 het 2907.83 250 16 81888152 . A G 2907.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.834;DP=250;DS;Dels=0.00;FS=2.279;HRun=0;HaplotypeScore=3.4850;MQ=59.00;MQ0=0;MQRankSum=0.865;QD=11.63;ReadPosRankSum=-1.290;VQSLOD=5.7140;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:143,107:250:99:2938,0,3762 16 81929488 81929488 C T exonic PLCG2 synonymous SNV PLCG2:NM_002661:exon13:c.C1149T:p.D383D 0.41 0.1 0.6 0.71 0.35 0.42 0.4158 0.1423 0.6850 0.7058 0.4434 0.3768 0.4233 0.3847 0.29 0.15 0.36 0.41 0.35 rs1143688 . . Benign not_specified RCV000454888.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4286 0.1411 0.6603 0.3452 0.7080 0.4301 0.3750 0.4249 0.3832 0.3500 0.1426 0.6005 0.3543 0.7348 0.4361 0.3913 0.4090 hom 4751.56 150 16 81929488 . C T 4751.56 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4189;MQ=59.43;MQ0=0;QD=31.68;VQSLOD=8.5969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4751,382,0 16 81941319 81941319 C T exonic PLCG2 synonymous SNV PLCG2:NM_002661:exon16:c.C1497T:p.A499A 0.78 0.58 0.87 0.95 0.75 0.8 0.7837 0.5991 0.9011 0.9736 0.7405 0.7685 0.7689 0.7914 0.72 0.62 0.77 0.77 0.71 rs1143689 . . Benign not_specified RCV000455961.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7885 0.5971 0.8931 0.7779 0.9713 0.7434 0.7646 0.7969 0.7882 0.7313 0.6046 0.8708 0.7748 0.9765 0.7461 0.7639 0.7699 het 1185.47 85 16 81941319 . C T 1185.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.453;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=58.57;MQ0=0;MQRankSum=2.668;QD=13.95;ReadPosRankSum=0.930;VQSLOD=5.3602;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,46:85:99:1215,0,997 16 82203742 82203742 T C exonic MPHOSPH6 synonymous SNV MPHOSPH6:NM_005792:exon1:c.A39G:p.L13L 0.64 0.41 0.81 0.76 0.75 0.61 0.7004 0.4578 0.8420 0.7665 0.7656 0.7182 0.7390 0.6219 0.65 0.48 0.74 0.42 0.57 rs1134847 COSM1563469 1(haematopoietic_and_lymphoid_tissue);2(kidney);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7193 0.4317 0.8337 0.6873 0.7594 0.7917 0.7281 0.7316 0.6305 0.6848 0.4910 0.8309 0.7020 0.8019 0.7888 0.7488 0.7474 het 409.33 53 16 82203742 . T C 409.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.192;DP=53;Dels=0.00;FS=5.897;HRun=0;HaplotypeScore=0.7887;MQ=57.06;MQ0=0;MQRankSum=-1.096;QD=7.72;ReadPosRankSum=-1.115;VQSLOD=2.7673;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,17:53:99:439,0,955 16 83065664 83065664 G A exonic CDH13 synonymous SNV CDH13:NM_001220489:exon3:c.G207A:p.S69S,CDH13:NM_001220491:exon3:c.G207A:p.S69S,CDH13:NM_001220492:exon3:c.G207A:p.S69S,CDH13:NM_001257:exon3:c.G207A:p.S69S,CDH13:NM_001220488:exon4:c.G348A:p.S116S 0.53 0.56 0.58 0.46 0.53 0.55 0.5820 0.5693 0.5827 0.4932 0.6636 0.5829 0.5966 0.5946 0.55 0.55 0.55 0.5 . rs6565105 COSM3755129;COSM3755128 1(breast);1(large_intestine) Benign not_specified RCV000250591.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5424 0.5459 0.5298 0.4419 0.4439 0.6355 0.5455 0.5174 0.5672 0.5497 0.5439 0.5239 0.3808 0.4558 0.6173 0.5501 0.5827 hom 1225.98 43 16 83065664 . G A 1225.98 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;QD=28.51;VQSLOD=8.2066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:96.30:1259,96,0 16 83711944 83711944 C T exonic CDH13 synonymous SNV CDH13:NM_001220489:exon9:c.C1299T:p.N433N,CDH13:NM_001220490:exon9:c.C654T:p.N218N,CDH13:NM_001257:exon10:c.C1416T:p.N472N,CDH13:NM_001220488:exon11:c.C1557T:p.N519N 0.0014 . . . 0.007 . 0.0080 0.0031 0.0028 0 0.0057 0.0127 0.0033 0.0008 0.0096 0.004 0.012 . . rs147140848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0080 0.0028 0.0032 0.0114 0 0.0050 0.0137 0.0058 0.0010 0.0069 0.0019 0.0012 0.0132 0 0.0049 0.0111 0.0092 het 1295.28 119 16 83711944 . C T 1295.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.175;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9976;MQ=59.10;MQ0=0;MQRankSum=-2.196;QD=10.88;ReadPosRankSum=0.456;VQSLOD=3.4266;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,54:119:99:1325,0,1689 16 83999033 83999033 A G exonic OSGIN1 synonymous SNV OSGIN1:NM_182981:exon6:c.A855G:p.S285S 0.33 0.74 0.17 0.11 0.2 0.25 0.2218 0.6721 0.1151 0.112 0.1548 0.1892 0.2228 0.2661 0.33 0.64 0.17 0.38 0.21 rs173776 COSM4129428 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2054 0.6762 0.1241 0.2522 0.1045 0.1505 0.1799 0.1986 0.2343 0.3057 0.6612 0.1451 0.2417 0.1049 0.1566 0.1729 0.2076 het 609.47 59 16 83999033 . A G 609.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.985;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;MQRankSum=-0.038;QD=10.33;ReadPosRankSum=-0.969;VQSLOD=6.2661;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,26:59:99:639,0,978 16 84012104 84012104 T C exonic NECAB2 nonsynonymous SNV NECAB2:NM_001329749:exon3:c.T59C:p.L20S 0.33 0.8 0.23 0.12 0.12 0.2 0.1860 0.7132 0.2283 0.1347 0.0792 0.1162 0.1597 0.1768 0.3 0.69 0.11 0.42 0.15 rs925331 COSM4418224 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 0.999 0.588 P . . . 1.96 0.223 T 0.35 0.038 N . . . . . . . . . . . -0.226 0.074 0.967 0.985 0.420 0.123 0.170 N n 0.869 0.303 0.002 0.094 0.615 0.372 0 0.459 0.158 0.101 0.150 -0.356 0.069 0.805 0.295 0.984 0.507 6.010 0.187 . . . 0.1748 0.7178 0.2312 0.1420 0.1321 0.0823 0.1121 0.1628 0.1749 0.2769 0.6952 0.2053 0.1457 0.1456 0.0865 0.1075 0.1507 het 3023.14 246 16 84012104 . T C 3023.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.424;DP=246;DS;Dels=0.00;FS=2.917;HRun=0;HaplotypeScore=4.3880;MQ=59.57;MQ0=0;MQRankSum=-1.687;QD=12.29;ReadPosRankSum=-0.042;VQSLOD=4.8235;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:130,116:246:99:3053,0,3500 16 84024200 84024200 G A exonic NECAB2 synonymous SNV NECAB2:NM_001329749:exon5:c.G312A:p.A104A,NECAB2:NM_001329748:exon6:c.G561A:p.A187A,NECAB2:NM_019065:exon6:c.G561A:p.A187A 0.011 0.014 0.016 . 0.02 0.0061 0.0159 0.0177 0.0061 0 0.0174 0.0213 0.0122 0.0078 0.018 0.019 0.017 . 0.0082 rs143735873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0148 0.0181 0.0076 0.0189 5.798e-05 0.0161 0.0203 0.0128 0.0080 0.0197 0.0178 0.0072 0.0265 0 0.0149 0.0248 0.0173 het 1482.26 126 16 84024200 . G A 1482.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.129;DP=126;Dels=0.00;FS=1.520;HRun=0;HaplotypeScore=5.2201;MQ=59.63;MQ0=0;MQRankSum=0.193;QD=11.76;ReadPosRankSum=1.199;VQSLOD=3.5081;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,60:126:99:1512,0,1736 16 84028014 84028014 C G exonic NECAB2 nonsynonymous SNV NECAB2:NM_001329749:exon6:c.C455G:p.T152S,NECAB2:NM_001329748:exon7:c.C704G:p.T235S,NECAB2:NM_019065:exon7:c.C704G:p.T235S 0.22 0.48 0.2 0.12 0.11 0.12 0.1417 0.4490 0.1842 0.0997 0.0750 0.1017 0.1306 0.1294 0.21 0.44 0.097 0.23 0.15 rs2292324 COSM148125 1(stomach);1(biliary_tract) . . . . . . . . . . . 0.928 0.046 T 0.0 0.026 B 0.0 0.013 B 0.093 0.202 N 1 0.090 P -1.81 0.003 N 2.35 0.215 T 0.54 0.040 N 0.022 0.009 -0.922 0.453 T 0.000 0.000 T . . . -1.084 0.029 0.011 0.623 0.067 0.008 0.031 N c -1.404 -1.262 1.000 0.517 0.361 0.048 1 3.6 0.402 0.382 0.202 0.070 0.177 0.323 0.253 0.002 0.062 4.467 0.110 . ENSG00000103154.5 Whole_Blood 0.1362 0.4557 0.1767 0.1538 0.0972 0.0804 0.0977 0.1382 0.1300 0.1947 0.4467 0.1703 0.1656 0.1009 0.0788 0.0931 0.1059 het 564.63 41 16 84028014 . C G 564.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.000;DP=41;Dels=0.00;FS=5.633;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=0.510;QD=13.77;ReadPosRankSum=0.013;VQSLOD=5.6657;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,19:41:99:595,0,606 16 84035514 84035514 G A exonic NECAB2 synonymous SNV NECAB2:NM_001329748:exon11:c.G1071A:p.L357L,NECAB2:NM_001329749:exon11:c.G876A:p.L292L,NECAB2:NM_019065:exon12:c.G1125A:p.L375L 0.035 . 0.017 0.11 0.019 0.034 0.0257 0.0047 0.0094 0.1042 0.0275 0.0201 0.0266 0.0309 0.012 0.0057 0.015 0.011 0.0082 rs2271299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0248 0.0039 0.0103 0.0151 0.1015 0.0258 0.0189 0.0210 0.0321 0.0222 0.0051 0.0107 0.0265 0.1011 0.0238 0.0236 0.0256 het 512.10 59 16 84035514 . G A 512.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.562;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6524;MQ=58.54;MQ0=0;MQRankSum=0.986;QD=8.68;ReadPosRankSum=0.585;VQSLOD=5.4901;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,22:59:99:542,0,965 16 84050209 84050209 G A exonic SLC38A8 synonymous SNV SLC38A8:NM_001080442:exon8:c.C1077T:p.L359L 0.027 0.026 0.032 . 0.072 0.0082 0.0436 0.0286 0.0281 0.0006 0.1070 0.0555 0.0643 0.0121 0.046 0.03 0.054 0.065 0.074 rs77876966 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0447 0.0297 0.0296 0.0656 0.0008 0.0988 0.0542 0.0555 0.0111 0.0458 0.0333 0.0346 0.0497 0 0.0942 0.0473 0.0480 het 1703.26 129 16 84050209 . G A 1703.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.106;DP=129;Dels=0.00;FS=1.444;HRun=1;HaplotypeScore=3.8896;MQ=59.06;MQ0=0;MQRankSum=1.162;QD=13.20;ReadPosRankSum=2.652;VQSLOD=4.3187;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,62:129:99:1733,0,1641 16 84115483 84115483 G A exonic MBTPS1 synonymous SNV MBTPS1:NM_003791:exon11:c.C1317T:p.P439P 0.53 0.57 0.52 0.7 0.44 0.4 0.4785 0.5413 0.5823 0.7080 0.5221 0.4294 0.4952 0.3959 0.46 0.53 0.42 0.49 0.41 rs3743631 COSM435863 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4732 0.5358 0.5729 0.4860 0.7087 0.5269 0.4214 0.4815 0.3738 0.4812 0.5293 0.5251 0.4901 0.6965 0.5298 0.4165 0.4714 het 1310.78 85 16 84115483 . G A 1310.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.815;DP=85;Dels=0.00;FS=5.018;HRun=0;HaplotypeScore=2.9137;MQ=57.89;MQ0=0;MQRankSum=-0.968;QD=15.42;ReadPosRankSum=0.818;VQSLOD=4.2533;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,47:85:99:1341,0,1060 16 84203612 84203612 A G exonic DNAAF1 nonsynonymous SNV DNAAF1:NM_001318756:exon4:c.A470G:p.K157R,DNAAF1:NM_178452:exon8:c.A1178G:p.K393R 0.32 0.19 0.41 0.34 0.45 0.29 0.4000 0.2165 0.4191 0.3379 0.4428 0.4525 0.3982 0.3058 0.38 0.23 0.46 0.33 0.34 rs17856705 COSM148127 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(pancreas);2(prostate);1(large_intestine) Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000215842.2|RCV000296406.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.219 0.190 T 0.002 0.090 B 0.003 0.080 B 0.208 0.034 N 1 0.090 P 1.095 0.275 L 1.78 0.257 T -0.48 0.154 N 0.056 0.039 -0.931 0.440 T 0.000 0.000 T . . . -1.279 0.023 0.005 0.671 0.080 0.044 0.099 N c -1.385 -1.409 0.994 0.335 0.497 0.185 0 0.133 0.140 -0.021 0.123 -1.252 0.015 0.000 0.063 0.000 0.016 1.017 0.014 . ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000154099.13|ENSG00000154099.13 Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Testis|Thyroid|Thyroid|Whole_Blood 0.4024 0.2147 0.4097 0.3821 0.3393 0.4395 0.4567 0.4003 0.3059 0.3807 0.2295 0.4258 0.3808 0.3439 0.4553 0.4517 0.3961 hom 2832.07 86 16 84203612 . A G 2832.07 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.51;MQ0=0;QD=32.93;VQSLOD=9.2990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2865,223,0 16 84203939 84203939 C T exonic DNAAF1 nonsynonymous SNV DNAAF1:NM_001318756:exon4:c.C797T:p.P266L,DNAAF1:NM_178452:exon8:c.C1505T:p.P502L 0.28 0.12 0.37 0.34 0.37 0.28 0.3427 0.1564 0.3982 0.3384 0.3425 0.3751 0.3375 0.2874 0.3 0.16 0.37 0.3 0.35 rs11644164 COSM3722423 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000216262.2|RCV000298193.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.532 0.070 T 0.005 0.119 B 0.003 0.080 B 0.131 0.028 N 1 0.090 P -0.805 0.016 N 1.85 0.245 T 0.14 0.054 N 0.057 0.040 -0.943 0.421 T 0.000 0.000 T . . . 0.128 0.106 3.912 0.233 0.010 0.004 0.020 N c -1.537 -1.563 0.102 0.164 0.497 0.185 0 -0.199 0.125 -0.826 0.045 -2.869 0.002 0.000 0.063 0.000 0.016 4.344 0.105 . ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000140943.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000154099.13|ENSG00000154099.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.3440 0.1490 0.3833 0.3578 0.3385 0.3388 0.3749 0.3391 0.2869 0.3002 0.1609 0.4021 0.3609 0.3422 0.3414 0.3588 0.3217 hom 2726.05 87 16 84203939 . C T 2726.05 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;QD=31.33;VQSLOD=9.2623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2759,217,0 16 84209634 84209634 C G exonic DNAAF1 synonymous SNV DNAAF1:NM_001318756:exon7:c.C1086G:p.L362L,DNAAF1:NM_178452:exon11:c.C1794G:p.L598L 0.53 0.52 0.52 0.53 0.5 0.59 0.5280 0.5213 0.5865 0.5236 0.4706 0.5115 0.5454 0.5823 0.51 0.51 0.51 0.51 0.5 rs2288019 COSM148129 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid);1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150417.2|RCV000270948.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5277 0.5169 0.5809 0.5204 0.5215 0.4740 0.5097 0.5296 0.5850 0.4989 0.5131 0.5728 0.5033 0.5442 0.4722 0.4887 0.4847 het 1333.80 90 16 84209634 . C G 1333.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.494;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=59.33;MQ0=0;MQRankSum=-2.152;QD=14.82;ReadPosRankSum=0.518;VQSLOD=4.9494;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,51:90:99:1364,0,1073 16 84209738 84209738 T C exonic DNAAF1 nonsynonymous SNV DNAAF1:NM_001318756:exon7:c.T1190C:p.L397S,DNAAF1:NM_178452:exon11:c.T1898C:p.L633S 0.27 0.061 0.4 0.38 0.34 0.26 0.3381 0.1026 0.4867 0.3764 0.3631 0.3591 0.3408 0.2688 0.27 0.11 0.36 0.24 0.3 rs2288020 COSM148130 1(bone);1(stomach);1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150418.2|RCV000276802.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.745 0.164 T 0.356 0.320 B 0.104 0.295 B 0.143 0.029 N 1 0.090 P 0.85 0.213 L 1.47 0.320 T -0.68 0.344 N 0.066 0.054 -0.978 0.354 T 0.000 0.000 T . . . -1.108 0.028 0.010 0.365 0.023 0.017 0.053 N c -1.410 -1.494 1.000 0.747 0.609 0.351 0 -3.4 0.045 -3.118 0.007 -2.316 0.003 0.000 0.063 0.000 0.016 6.011 0.187 . ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103160.7|ENSG00000103168.12|ENSG00000250685.3|ENSG00000103168.12|ENSG00000250685.3|ENSG00000103168.12|ENSG00000154099.13|ENSG00000103168.12|ENSG00000154099.13|ENSG00000154099.13 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.3456 0.0997 0.4726 0.2932 0.3727 0.3634 0.3596 0.3333 0.2698 0.2839 0.1070 0.4629 0.2967 0.3727 0.3605 0.3479 0.3027 hom 1183.88 38 16 84209738 . T C 1183.88 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.15;VQSLOD=13.8243;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1217,99,0 16 84209815 84209815 C G exonic DNAAF1 nonsynonymous SNV DNAAF1:NM_001318756:exon7:c.C1267G:p.L423V,DNAAF1:NM_178452:exon11:c.C1975G:p.L659V 0.13 0.0068 0.24 0.097 0.21 0.18 0.1979 0.0375 0.2245 0.1170 0.2225 0.2221 0.2065 0.2135 0.16 0.044 0.22 0.087 0.24 rs2288021 COSM3755135 1(large_intestine) Benign|Likely benign not_specified|Primary_ciliary_dyskinesia RCV000150419.2|RCV000331812.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.022 0.486 D 0.013 0.154 B 0.025 0.218 B 0.627 0.058 N 1 0.090 P 0.345 0.112 N 1.86 0.243 T 0.17 0.105 N 0.2 0.245 -0.952 0.407 T 0.000 0.000 T . . . -0.566 0.052 0.151 0.890 0.178 0.051 0.108 N c -1.240 -1.238 1.000 0.747 0.609 0.351 0 0.294 0.149 -0.430 0.070 -1.044 0.020 0.000 0.063 0.000 0.016 2.872 0.052 . ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000154099.13|ENSG00000103168.12|ENSG00000140943.12 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Testis|Thyroid|Whole_Blood 0.1998 0.0363 0.2202 0.2249 0.1198 0.2130 0.2195 0.2159 0.2116 0.1626 0.0425 0.2029 0.1946 0.1244 0.2223 0.2164 0.2169 het 1143.41 78 16 84209815 . C G 1143.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.045;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=-0.366;QD=14.66;ReadPosRankSum=-0.596;VQSLOD=5.8570;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,42:78:99:1173,0,1006 16 84209816 84209816 T C exonic DNAAF1 nonsynonymous SNV DNAAF1:NM_001318756:exon7:c.T1268C:p.L423P,DNAAF1:NM_178452:exon11:c.T1976C:p.L659P 0.27 0.061 0.4 0.38 0.34 0.26 0.3368 0.1024 0.4828 0.3728 0.3614 0.3574 0.3404 0.2688 0.27 0.11 0.35 0.24 0.35 rs2288022 COSM3755136 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150420.2|RCV000386320.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 1.0 0.144 T 0.0 0.026 B 0.001 0.040 B 0.627 0.058 N 1 0.090 P -0.345 0.033 N 2.15 0.193 T 2.14 0.008 N 0.345 0.406 -0.924 0.450 T 0.000 0.000 T . . . -1.200 0.025 0.007 0.360 0.023 0.003 0.014 N c -1.527 -1.424 1.000 0.747 0.609 0.351 0 2.33 0.279 0.009 0.130 0.027 0.148 0.000 0.063 0.000 0.016 6.305 0.202 . ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103160.7|ENSG00000103168.12|ENSG00000250685.3|ENSG00000103168.12|ENSG00000250685.3|ENSG00000103168.12|ENSG00000154099.13|ENSG00000103168.12|ENSG00000154099.13|ENSG00000154099.13 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.3451 0.0993 0.4722 0.2932 0.3728 0.3630 0.3586 0.3328 0.2698 0.2835 0.1078 0.4630 0.2967 0.3697 0.3605 0.3474 0.3012 het 1010.45 79 16 84209816 . T C 1010.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.508;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=-0.977;QD=12.79;ReadPosRankSum=0.516;VQSLOD=5.5960;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,36:79:99:1040,0,1076 16 84209864 84209864 G C exonic DNAAF1 nonsynonymous SNV DNAAF1:NM_001318756:exon7:c.G1316C:p.S439T,DNAAF1:NM_178452:exon11:c.G2024C:p.S675T 0.27 0.061 0.41 0.38 0.34 0.26 0.3383 0.1043 0.4837 0.3767 0.3624 0.3589 0.3392 0.2686 0.27 0.11 0.36 0.24 0.36 rs2288023 COSM1563462 1(bone);1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150421.2|RCV000282240.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.451 0.090 T 0.05 0.209 B 0.028 0.201 B 0.185 0.032 N 1 0.090 P 0.205 0.094 N 1.47 0.320 T -0.68 0.195 N 0.162 0.195 -0.944 0.420 T 0.000 0.000 T . . . -0.198 0.076 1.111 0.828 0.139 0.059 0.117 N c -1.083 -1.158 1.000 0.747 0.609 0.351 0 -1.74 0.076 -0.017 0.124 0.998 0.613 0.000 0.063 0.002 0.062 5.967 0.184 . ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103160.7|ENSG00000103168.12|ENSG00000250685.3|ENSG00000103168.12|ENSG00000250685.3|ENSG00000103168.12|ENSG00000154099.13|ENSG00000103168.12|ENSG00000154099.13|ENSG00000154099.13 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.3457 0.1003 0.4724 0.2932 0.3761 0.3630 0.3592 0.3321 0.2697 0.2839 0.1077 0.4642 0.2947 0.3753 0.3610 0.3472 0.3027 het 999.43 94 16 84209864 . G C 999.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.911;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.12;MQ0=1;MQRankSum=0.581;QD=10.63;ReadPosRankSum=-2.413;VQSLOD=5.3916;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,37:94:99:1029,0,1654 16 84212571 84212571 C A exonic TAF1C synonymous SNV TAF1C:NM_001243158:exon11:c.G1590T:p.R530R,TAF1C:NM_001243157:exon12:c.G1590T:p.R530R,TAF1C:NM_001243160:exon12:c.G1155T:p.R385R,TAF1C:NM_001243159:exon14:c.G1359T:p.R453R,TAF1C:NM_005679:exon14:c.G2586T:p.R862R,TAF1C:NM_001243156:exon15:c.G2508T:p.R836R,TAF1C:NM_139353:exon15:c.G2304T:p.R768R 0.27 0.092 0.41 0.37 0.34 0.25 0.3435 0.1306 0.4853 0.3709 0.3678 0.3587 0.3493 0.2871 0.28 0.13 0.35 0.25 0.26 rs1804500 COSM148131 1(stomach);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3456 0.1276 0.4721 0.2936 0.3716 0.3604 0.3576 0.3326 0.2679 0.2889 0.1323 0.4594 0.2947 0.3719 0.3568 0.3450 0.2992 hom 932.95 31 16 84212571 . C A 932.95 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.10;VQSLOD=12.9588;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:84.21:966,84,0 16 84213114 84213114 C T exonic TAF1C synonymous SNV TAF1C:NM_001243158:exon11:c.G1047A:p.V349V,TAF1C:NM_001243157:exon12:c.G1047A:p.V349V,TAF1C:NM_001243160:exon12:c.G612A:p.V204V,TAF1C:NM_001243159:exon14:c.G816A:p.V272V,TAF1C:NM_005679:exon14:c.G2043A:p.V681V,TAF1C:NM_001243156:exon15:c.G1965A:p.V655V,TAF1C:NM_139353:exon15:c.G1761A:p.V587V 0.29 0.13 0.41 0.37 0.35 0.27 0.3512 0.1740 0.5122 0.3693 0.3666 0.3648 0.3437 0.2743 0.3 0.17 0.36 0.22 0.25 rs2230130 COSM3755139 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3547 0.1656 0.4932 0.2953 0.3688 0.3604 0.3641 0.3392 0.2729 0.3038 0.1720 0.4773 0.2947 0.3688 0.3580 0.3514 0.3041 het 684.11 52 16 84213114 . C T 684.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.576;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.28;MQ0=0;MQRankSum=0.349;QD=13.16;ReadPosRankSum=1.104;VQSLOD=6.5107;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:714,0,650 16 84213434 84213434 A T exonic TAF1C nonsynonymous SNV TAF1C:NM_001243158:exon11:c.T727A:p.L243M,TAF1C:NM_001243157:exon12:c.T727A:p.L243M,TAF1C:NM_001243160:exon12:c.T292A:p.L98M,TAF1C:NM_001243159:exon14:c.T496A:p.L166M,TAF1C:NM_005679:exon14:c.T1723A:p.L575M,TAF1C:NM_001243156:exon15:c.T1645A:p.L549M,TAF1C:NM_139353:exon15:c.T1441A:p.L481M 0.32 0.16 0.45 0.38 0.39 0.31 0.4008 0.2202 0.5495 0.3754 0.4085 0.4176 0.4109 0.3313 0.31 0.17 0.38 0.21 0.31 rs2230129 COSM3755140 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid);2(large_intestine) Benign not_specified RCV000455673.1 MedGen CN169374 . . . . . . 0.141 0.255 T 0.899 0.554 P 0.466 0.520 P 0.952 0.083 U 1 0.090 P 0.69 0.170 N 3.66 0.048 T -0.18 0.108 N 0.035 0.202 -0.902 0.478 T 0.000 0.000 T . . . 1.336 0.224 12.46 0.949 0.251 0.070 0.129 N c -0.680 -0.819 1.000 0.747 0.672 0.522 0 1.24 0.203 -1.498 0.024 -0.210 0.100 0.000 0.063 0.000 0.016 4.172 0.097 . ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103168.12|ENSG00000103160.7|ENSG00000103168.12|ENSG00000250685.3|ENSG00000103168.12|ENSG00000250685.3|ENSG00000154099.13|ENSG00000103168.12|ENSG00000154099.13|ENSG00000154099.13 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.3966 0.1966 0.5253 0.3744 0.3704 0.3801 0.4124 0.4006 0.3249 0.3358 0.1933 0.5096 0.3642 0.3661 0.3783 0.3953 0.3354 het 198.07 29 16 84213434 . A T 198.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.271;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;MQRankSum=0.344;QD=6.83;ReadPosRankSum=0.941;VQSLOD=5.1046;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,10:29:99:228,0,520 16 84215390 84215390 T C exonic TAF1C synonymous SNV TAF1C:NM_005679:exon8:c.A996G:p.A332A,TAF1C:NM_001243156:exon9:c.A918G:p.A306A,TAF1C:NM_139353:exon9:c.A717G:p.A239A 0.33 0.24 0.43 0.38 0.36 0.3 0.3769 0.2689 0.5346 0.3714 0.3641 0.3833 0.3775 0.3162 0.35 0.27 0.39 0.34 0.36 rs2230127 COSM148132 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3827 0.2692 0.5150 0.3346 0.3721 0.3644 0.3866 0.3734 0.3173 0.3411 0.2638 0.5120 0.3311 0.3688 0.3635 0.3698 0.3248 hom 4121.67 134 16 84215390 . T C 4121.67 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1172;MQ=58.73;MQ0=0;QD=30.76;VQSLOD=9.0036;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4121,337,0 16 84217062 84217062 C T exonic TAF1C nonsynonymous SNV TAF1C:NM_001243156:exon4:c.G272A:p.C91Y,TAF1C:NM_005679:exon4:c.G272A:p.C91Y,TAF1C:NM_139353:exon4:c.G71A:p.C24Y 1. 1. 1. 1. 1. 1. 0.9989 1 0.9994 1 1 0.9983 0.9977 0.9998 1. 1. 1. 1. 0.89 rs4782591 COSM4129433 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.215 0.034 N 1 0.090 P -1.61 0.004 N 1.04 0.402 T 2.29 0.004 N 0.016 0.391 -0.931 0.441 T 0.000 0.000 T . . . -1.506 0.017 0.003 0.877 0.169 0.004 0.020 N c -1.768 -1.730 1.000 0.480 0.707 0.730 0 -4.59 0.031 -2.252 0.013 -0.256 0.089 0.000 0.063 0.013 0.120 0.693 0.008 . . . 0.9988 0.9997 0.9994 0.9996 1 1.0000 0.9978 0.9978 0.9997 0.9986 0.9993 1 1 1 1 0.9977 0.9990 hom 1026.12 39 16 84217062 . C T 1026.12 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=26.31;VQSLOD=7.7630;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:87.24:1059,87,0 16 84229436 84229436 G A exonic ADAD2 synonymous SNV ADAD2:NM_001145400:exon7:c.G1068A:p.S356S,ADAD2:NM_139174:exon8:c.G1314A:p.S438S 0.31 0.28 0.44 0.23 0.32 0.35 0.3453 0.3034 0.5205 0.2630 0.3342 0.3289 0.3393 0.3542 0.3 0.28 0.3 0.27 0.11 rs62049905 COSM435868 1(pancreas);1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3403 0.2894 0.4954 0.3032 0.2626 0.3095 0.3211 0.3245 0.3388 0.3027 0.2856 0.4807 0.2886 0.2573 0.3075 0.3076 0.2878 het 328.45 37 16 84229436 . G A 328.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.102;DP=37;Dels=0.00;FS=12.414;HRun=0;HaplotypeScore=1.9825;MQ=58.99;MQ0=0;MQRankSum=0.557;QD=8.88;ReadPosRankSum=-0.652;VQSLOD=3.2931;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,13:37:99:358,0,605 16 84229559 84229559 T C exonic ADAD2 synonymous SNV ADAD2:NM_001145400:exon7:c.T1191C:p.S397S,ADAD2:NM_139174:exon8:c.T1437C:p.S479S 0.81 0.99 0.68 0.71 0.79 0.75 0.7626 0.9553 0.6628 0.7131 0.7341 0.7674 0.7512 0.7369 0.83 0.95 0.77 0.59 0.46 rs2303238 COSM435869 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7564 0.9587 0.6717 0.7863 0.7113 0.7357 0.7679 0.7430 0.7379 0.8136 0.9540 0.6998 0.8046 0.7116 0.7337 0.7720 0.7536 het 857.75 66 16 84229559 . T C 857.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.239;DP=66;Dels=0.00;FS=3.767;HRun=0;HaplotypeScore=2.4328;MQ=60.00;MQ0=0;MQRankSum=0.598;QD=13.00;ReadPosRankSum=0.926;VQSLOD=6.0445;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,31:66:99:888,0,939 16 84229580 84229580 C T exonic ADAD2 synonymous SNV ADAD2:NM_001145400:exon7:c.C1212T:p.A404A,ADAD2:NM_139174:exon8:c.C1458T:p.A486A 0.29 0.18 0.44 0.24 0.33 0.35 0.3322 0.2018 0.5150 0.2657 0.3334 0.3258 0.3365 0.3402 0.28 0.21 0.31 0.17 0.16 rs2303239 COSM3755142 1(lung);1(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3369 0.1988 0.4927 0.3043 0.2687 0.3212 0.3239 0.3233 0.3372 0.2834 0.2033 0.4809 0.2933 0.2707 0.3182 0.3116 0.2881 het 1101.15 67 16 84229580 . C T 1101.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.804;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.534;QD=16.44;ReadPosRankSum=0.145;VQSLOD=12.5273;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,36:67:99:1131,0,860 16 84256103 84256103 C T exonic KCNG4 nonsynonymous SNV KCNG4:NM_172347:exon3:c.G1280A:p.R427H 0.064 0.016 0.037 0.1 0.086 0.089 0.0757 0.0207 0.0344 0.0971 0.0779 0.0837 0.0933 0.0936 0.058 0.024 0.075 0.033 0.025 rs35649980 COSM5618448 1(breast) . . . . . . . . . . . 0.088 0.323 T 0.891 0.470 P 0.382 0.421 B 0.000 0.481 D 1.000 0.537 D 1.165 0.299 L 0.91 0.449 T -2.75 0.584 D 0.343 0.404 -1.178 0.004 T 0.004 0.012 T . . . 6.072 0.836 28.1 0.999 0.999 0.950 0.627 D c 0.403 0.492 1.000 0.747 0.497 0.185 0 5.61 0.853 5.012 0.635 0.852 0.362 0.984 0.356 0.992 0.562 18.627 0.913 Ion transport domain . . 0.0744 0.0210 0.0393 0.0931 0.0959 0.0766 0.0814 0.0810 0.0930 0.0625 0.0223 0.0442 0.0833 0.0895 0.0805 0.0792 0.0673 het 1145.04 110 16 84256103 . C T 1145.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.840;DP=110;Dels=0.00;FS=1.642;HRun=0;HaplotypeScore=0.6651;MQ=59.16;MQ0=0;MQRankSum=-0.534;QD=10.41;ReadPosRankSum=-0.747;VQSLOD=6.1559;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,44:110:99:1175,0,1686 16 84256422 84256422 C T exonic KCNG4 nonsynonymous SNV KCNG4:NM_172347:exon3:c.G961A:p.E321K 0.05 0.022 0.036 0.032 0.084 0.084 0.0712 0.0226 0.0338 0.0417 0.0813 0.0823 0.0819 0.0938 0.056 0.024 0.072 0.022 0.041 rs4782905 COSM5618446 1(breast) . . . . . . . . . . . 0.827 0.029 T 0.083 0.232 B 0.036 0.216 B 0.099 0.025 N 0.627 0.307 N -0.555 0.023 N -4.02 0.964 D -0.64 0.187 N 0.148 0.175 -0.818 0.541 T 0.148 0.474 T . . . 1.261 0.216 12.06 0.991 0.513 0.246 0.222 N c -0.885 -0.811 1.000 0.500 0.497 0.185 0 4.66 0.577 0.599 0.236 0.848 0.348 0.000 0.063 0.005 0.090 13.758 0.623 Ion transport domain|Voltage-dependent channel\x2c four helix bundle domain . . 0.0680 0.0228 0.0370 0.0892 0.0377 0.0758 0.0784 0.0763 0.0898 0.0580 0.0244 0.0453 0.0828 0.0296 0.0799 0.0754 0.0642 het 456.50 38 16 84256422 . C T 456.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.476;DP=38;Dels=0.00;FS=2.984;HRun=1;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=-0.336;QD=12.01;ReadPosRankSum=-1.242;VQSLOD=6.0781;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:486,0,455 16 84256619 84256619 C T exonic KCNG4 nonsynonymous SNV KCNG4:NM_172347:exon3:c.G764A:p.C255Y 0.098 0.13 0.1 0.083 0.068 0.096 0.0770 0.1102 0.0959 0.0688 0.0712 0.0659 0.0919 0.1077 0.076 0.1 0.063 0.12 0.041 rs17736370 COSM1600028 1(thyroid);1(large_intestine);2(central_nervous_system) . . . . . . . . . . . 0.042 0.416 D 0.124 0.252 B 0.052 0.241 B 0.000 0.843 D 0.000 0.588 P 3.08 0.875 M -4.05 0.965 D -6.17 0.902 D 0.674 0.683 -0.579 0.657 T 0.041 0.175 T . . . 3.664 0.497 23.2 0.716 0.094 0.986 0.842 D c 0.215 0.291 1.000 0.747 0.497 0.185 0 5.5 0.813 7.905 0.864 0.852 0.362 1.000 0.715 0.153 0.206 18.391 0.904 Ion transport domain|Voltage-dependent channel\x2c four helix bundle domain . . 0.0747 0.1024 0.0939 0.0867 0.0677 0.0643 0.0632 0.0814 0.1002 0.0761 0.1071 0.0801 0.0894 0.0785 0.0627 0.0618 0.0550 het 339.74 49 16 84256619 . C T 339.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.783;DP=49;Dels=0.00;FS=1.249;HRun=0;HaplotypeScore=0.0000;MQ=57.72;MQ0=0;MQRankSum=1.876;QD=6.93;ReadPosRankSum=-1.226;VQSLOD=3.6352;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,15:49:99:370,0,926 16 84270381 84270381 G A exonic KCNG4 synonymous SNV KCNG4:NM_172347:exon2:c.C711T:p.S237S 0.6 0.67 0.56 0.46 0.62 0.63 0.6058 0.6698 0.5979 0.4467 0.6972 0.5948 0.6099 0.6617 0.61 0.65 0.58 0.67 0.61 rs244811 COSM3755145 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5994 0.6689 0.5876 0.5233 0.4445 0.6888 0.5904 0.6035 0.6566 0.6195 0.6580 0.5957 0.4733 0.4512 0.6892 0.6021 0.6373 hom 1644.11 55 16 84270381 . G A 1644.11 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;QD=29.89;VQSLOD=8.9913;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1677,135,0 16 84270743 84270743 G A exonic KCNG4 nonsynonymous SNV KCNG4:NM_172347:exon2:c.C349T:p.P117S 0.098 0.06 0.13 0.22 0.027 0.082 0.0542 0.0473 0.1372 0.2005 0.0584 0.0141 0.0489 0.0842 0.022 0.042 0.011 0.054 0.033 rs3803641 . . . . . . . . . . . . . 0.015 0.524 D 0.999 0.899 D 0.951 0.971 D 0.000 0.843 D 0.000 0.588 P 2.625 0.771 M -1.2 0.785 T -6.76 0.950 D 0.364 0.550 -1.145 0.012 T 0.001 0.004 T . . . 4.576 0.613 24.4 0.999 0.983 0.983 0.810 D c 0.808 0.771 1.000 0.747 0.497 0.185 0 5.12 0.693 7.681 0.833 0.867 0.377 1.000 0.715 0.998 0.697 17.548 0.877 BTB/POZ domain|Potassium channel tetramerisation-type BTB domain|SKP1/BTB/POZ domain . . 0.0576 0.0494 0.1338 0.0105 0.1987 0.0533 0.0127 0.0405 0.0834 0.0381 0.0445 0.1002 0.0033 0.1838 0.0489 0.0140 0.0295 het 927.71 99 16 84270743 . G A 927.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.525;DP=99;Dels=0.00;FS=2.840;HRun=0;HaplotypeScore=6.9053;MQ=58.31;MQ0=0;MQRankSum=-0.542;QD=9.37;ReadPosRankSum=0.960;VQSLOD=4.2034;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,37:99:99:958,0,1821 16 84360533 84360533 A G exonic WFDC1 nonsynonymous SNV WFDC1:NM_001282466:exon6:c.A650G:p.K217R,WFDC1:NM_001282467:exon6:c.A647G:p.K216R,WFDC1:NM_021197:exon6:c.A650G:p.K217R 0.3 0.33 0.27 0.28 0.3 0.3 0.2844 0.3367 0.2389 0.2483 0.2513 0.2871 0.2528 0.3066 0.32 0.33 0.31 0.37 0.33 rs12933084 COSM3755147 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 1 0.090 P -0.715 0.018 N 1.41 0.334 T 0.08 0.060 N 0.015 0.009 -0.947 0.416 T 0.000 0.000 T . . . -1.006 0.032 0.015 0.056 0.000 0.013 0.044 N c -1.211 -1.136 0.001 0.080 0.516 0.203 0 1.41 0.214 1.026 0.295 0.048 0.160 0.999 0.424 0.223 0.222 3.578 0.074 . . . 0.2839 0.34 0.2558 0.2488 0.2519 0.2487 0.2944 0.2804 0.3040 0.3030 0.3443 0.2572 0.2715 0.2391 0.2481 0.3027 0.2914 hom 4915.64 152 16 84360533 . A G 4915.64 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=32.34;VQSLOD=9.7969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:4915,376,0 16 84444349 84444349 A C exonic ATP2C2 nonsynonymous SNV ATP2C2:NM_001286527:exon6:c.A493C:p.M165L,ATP2C2:NM_014861:exon6:c.A493C:p.M165L 1. 0.99 1. 1. 1. 1. 0.9990 0.9893 0.9991 1 1 0.9999 1 1 1. 0.99 1. 1. 1. rs247818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9890 0.9988 1 1 1 0.9999 0.9998 1 0.9963 0.9872 0.9976 1 1 1 0.9999 1 hom 3037.95 96 16 84444349 . A C 3037.95 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9636;MQ=57.48;MQ0=0;QD=31.65;VQSLOD=6.9750;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3071,238,0 16 84476200 84476200 A T exonic ATP2C2 nonsynonymous SNV ATP2C2:NM_001291454:exon12:c.A943T:p.M315L,ATP2C2:NM_001286527:exon15:c.A1396T:p.M466L,ATP2C2:NM_014861:exon15:c.A1396T:p.M466L 0.41 0.47 0.34 0.42 0.35 0.42 0.3729 0.4263 0.3295 0.4265 0.2859 0.3663 0.3797 0.4048 0.39 0.42 0.38 0.4 0.33 rs247897 COSM3755148 1(large_intestine) . . . . . . . . . . . 0.321 0.137 T 0.043 0.278 B 0.102 0.324 B 0.000 0.629 D 0.002 0.449 P 0.775 0.195 N -3.68 0.953 D -2.51 0.545 D 0.137 0.159 -1.002 0.292 T 0.000 0.000 T . . . 1.316 0.222 12.35 0.793 0.122 0.968 0.706 D c -0.379 -0.233 0.981 0.302 0.554 0.283 0 3.8 0.427 6.479 0.733 1.028 0.649 1.000 0.715 0.464 0.265 11.172 0.476 P-type ATPase\x2c transmembrane domain|P-type ATPase\x2c cytoplasmic domain N . . 0.3703 0.4294 0.3348 0.3547 0.4291 0.2942 0.3727 0.3588 0.4001 0.3782 0.4228 0.3421 0.4106 0.4285 0.2979 0.3698 0.3357 het 2254.21 169 16 84476200 . A T 2254.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.334;DP=169;DS;Dels=0.00;FS=0.683;HRun=1;HaplotypeScore=7.3717;MQ=58.29;MQ0=0;MQRankSum=0.714;QD=13.34;ReadPosRankSum=-0.771;VQSLOD=4.0507;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,83:169:99:2284,0,2214 16 84485573 84485573 C A exonic ATP2C2 synonymous SNV ATP2C2:NM_001291454:exon15:c.C1254A:p.L418L,ATP2C2:NM_001286527:exon18:c.C1707A:p.L569L,ATP2C2:NM_014861:exon18:c.C1707A:p.L569L 1. 0.99 1. 1. 1. 1. 0.9993 0.9927 0.9996 1 1 0.9999 0.9989 1 1. 0.99 1. 1. 0.98 rs247885 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 0.9922 0.9996 1 1 1 1.0000 1 1 0.9981 0.9937 1 1 1 1 0.9999 0.9980 hom 5738.97 197 16 84485573 . C A 5738.97 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5649;MQ=59.10;MQ0=0;QD=29.13;VQSLOD=6.7621;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:5738,445,0 16 84494275 84494275 C T exonic ATP2C2 synonymous SNV ATP2C2:NM_001291454:exon21:c.C1896T:p.P632P,ATP2C2:NM_014861:exon24:c.C2349T:p.P783P,ATP2C2:NM_001286527:exon25:c.C2436T:p.P812P 0.47 0.41 0.5 0.63 0.43 0.41 0.4511 0.3915 0.4551 0.6440 0.4147 0.4509 0.4522 0.3981 0.43 0.4 0.44 0.56 0.39 rs2241640 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4538 0.3961 0.4600 0.4450 0.6386 0.4243 0.4525 0.4611 0.3993 0.4376 0.4052 0.4606 0.4603 0.6269 0.4253 0.4392 0.4051 het 4321.91 245 16 84494275 . C T 4321.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.741;DP=245;DS;Dels=0.00;FS=4.396;HRun=0;HaplotypeScore=4.4516;MQ=59.17;MQ0=0;MQRankSum=-0.998;QD=17.64;ReadPosRankSum=-1.344;VQSLOD=4.1277;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,132:245:99:3692,0,2986 16 84513562 84513562 G A exonic TLDC1 nonsynonymous SNV TLDC1:NM_020947:exon8:c.C1328T:p.S443L 0.008 0.0015 0.026 . 0.017 0.0031 0.0150 0.0052 0.0121 0 0.0058 0.0219 0.0138 0.0068 0.018 0.0057 0.024 0.011 0.016 rs34628943 . . . . . . . . . . . . . 0.033 0.443 D 0.625 0.392 P 0.088 0.282 B 0.333 0.141 N 1 0.090 N 2.095 0.583 M 3.06 0.087 T -2.55 0.551 D 0.028 0.104 -1.070 0.094 T 0.010 0.036 T . . . 1.463 0.238 13.12 0.980 0.367 0.183 0.200 N c -0.538 -0.675 0.974 0.294 0.707 0.730 0 1.65 0.229 0.613 0.238 0.032 0.150 0.000 0.063 0.001 0.043 10.800 0.455 . . . 0.0150 0.0041 0.0139 0.0299 0 0.0058 0.0218 0.0179 0.0066 0.0153 0.0045 0.0084 0.0232 0 0.0057 0.0260 0.0102 het 779.10 66 16 84513562 . G A 779.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.277;DP=66;Dels=0.00;FS=0.956;HRun=2;HaplotypeScore=2.7850;MQ=59.08;MQ0=0;MQRankSum=0.638;QD=11.80;ReadPosRankSum=0.490;VQSLOD=5.9473;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,32:66:99:809,0,785 16 84516309 84516309 G A exonic TLDC1 synonymous SNV TLDC1:NM_020947:exon6:c.C966T:p.N322N 0.44 0.2 0.52 0.56 0.42 0.61 0.4559 0.2364 0.5717 0.5648 0.4392 0.4271 0.4481 0.5773 0.36 0.25 0.42 0.33 0.41 rs433293 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4586 0.2312 0.5460 0.3987 0.5719 0.4393 0.4240 0.4370 0.5753 0.3973 0.2341 0.5274 0.3742 0.5709 0.4425 0.4501 0.4939 het 748.46 47 16 84516309 . G A 748.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.092;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;MQRankSum=1.444;QD=15.92;ReadPosRankSum=1.872;VQSLOD=5.9255;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,26:47:99:778,0,621 16 84520325 84520325 T C exonic TLDC1 synonymous SNV TLDC1:NM_020947:exon5:c.A870G:p.G290G 0.64 0.43 0.66 0.9 0.48 0.79 0.5681 0.4391 0.7544 0.9071 0.5588 0.4743 0.5554 0.7239 0.46 0.45 0.47 0.52 0.51 rs431389 COSM5618702;COSM5618703 2(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5759 0.4386 0.7243 0.4710 0.9060 0.5673 0.4720 0.5389 0.7196 0.5198 0.4483 0.6850 0.4333 0.9015 0.5599 0.4985 0.5943 het 1686.75 136 16 84520325 . T C 1686.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.543;DP=136;Dels=0.00;FS=3.373;HRun=4;HaplotypeScore=1.8154;MQ=59.37;MQ0=0;MQRankSum=0.002;QD=12.40;ReadPosRankSum=-0.398;VQSLOD=6.6461;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,68:136:99:1717,0,1636 16 84520396 84520396 A G exonic TLDC1 nonsynonymous SNV TLDC1:NM_020947:exon5:c.T799C:p.C267R 1. 0.99 1. 1. 1. 1. 0.9993 0.9922 0.9998 1 1 1.0000 1 1 1. 0.99 1. 1. 0.97 rs422145 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.393 N 0.708 0.300 P -3.195 0.000 N 3.38 0.058 T 6.84 0.000 N 0.032 0.124 -0.985 0.339 T 0.000 0.000 T . . . -0.224 0.074 0.979 0.223 0.009 0.112 0.163 N c -1.140 -0.875 0.955 0.281 0.706 0.609 0 4.16 0.480 0.861 0.273 0.076 0.183 0.733 0.287 0.965 0.450 10.146 0.417 TLDc domain . . 0.9995 0.9925 0.9998 1 1 1 0.9999 0.9998 1 0.9978 0.9921 1 1 1 1 1 1 hom 2461.19 75 16 84520396 . A G 2461.19 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=32.82;VQSLOD=9.8749;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2494,205,0 16 84520537 84520537 T C exonic TLDC1 nonsynonymous SNV TLDC1:NM_020947:exon5:c.A658G:p.I220V 0.98 0.94 0.99 1. 1. 1. 0.9937 0.9552 0.9954 1 1 0.9965 0.9967 0.9996 0.98 0.95 1. 1. 0.98 rs431818 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.024 0.262 N 1 0.090 P -1.5 0.005 N 3.34 0.061 T 0.23 0.046 N 0.009 0.009 -0.995 0.312 T 0.000 0.000 T . . . -2.398 0.004 0.001 0.130 0.002 0.039 0.092 N c -1.600 -1.583 0.976 0.296 0.732 0.924 0 -2.68 0.057 -0.258 0.087 -2.332 0.003 0.000 0.063 0.000 0.016 5.099 0.140 . . . 0.9939 0.9538 0.9950 0.9606 1 1.0000 0.9983 0.9931 0.9997 0.9841 0.9476 0.9964 0.9570 1 0.9994 0.9989 0.9990 hom 2965.98 93 16 84520537 . T C 2965.98 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=31.89;VQSLOD=9.1698;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2999,253,0 16 84690608 84690608 C T exonic KLHL36 synonymous SNV KLHL36:NM_001303451:exon3:c.C195T:p.A65A,KLHL36:NM_024731:exon3:c.C195T:p.A65A 0.018 0.014 0.017 . 0.025 0.035 0.0269 0.0114 0.0131 0.0001 0.0162 0.0333 0.0431 0.0381 0.026 0.011 0.034 0.011 0.0082 rs74338298 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0259 0.0107 0.0147 0.0406 5.798e-05 0.0147 0.0328 0.0290 0.0380 0.0219 0.0119 0.0107 0.0629 0 0.0166 0.0313 0.0193 het 1961.04 133 16 84690608 . C T 1961.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.486;DP=133;Dels=0.00;FS=9.510;HRun=0;HaplotypeScore=3.5987;MQ=60.00;MQ0=0;MQRankSum=0.128;QD=14.74;ReadPosRankSum=0.128;VQSLOD=4.2893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,66:133:99:1991,0,1785 16 84695280 84695280 A G exonic KLHL36 synonymous SNV KLHL36:NM_001303451:exon4:c.A1203G:p.L401L,KLHL36:NM_024731:exon5:c.A1392G:p.L464L 0.18 0.37 0.11 0.035 0.21 0.08 0.1960 0.3615 0.0803 0.0286 0.2651 0.2330 0.1797 0.0854 0.27 0.36 0.23 0.21 0.2 rs17755815 COSM435879 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1881 0.3648 0.0935 0.1064 0.0274 0.2800 0.2347 0.1701 0.0882 0.2647 0.3644 0.1062 0.0833 0.0310 0.2887 0.2409 0.2377 het 1959.25 142 16 84695280 . A G 1959.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.775;DP=142;Dels=0.00;FS=2.995;HRun=0;HaplotypeScore=3.8388;MQ=59.68;MQ0=0;MQRankSum=0.598;QD=13.80;ReadPosRankSum=-0.630;VQSLOD=5.5877;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,70:142:99:1989,0,1942 16 84695490 84695490 C T exonic KLHL36 synonymous SNV KLHL36:NM_001303451:exon4:c.C1413T:p.H471H,KLHL36:NM_024731:exon5:c.C1602T:p.H534H 0.14 0.25 0.098 0.033 0.21 0.077 0.2093 0.2840 0.0974 0.0352 0.3134 0.2561 0.1973 0.0934 0.23 0.25 0.23 0.15 0.12 rs12928590 COSM3755149 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1803 0.2621 0.0895 0.1115 0.0272 0.2821 0.2344 0.1680 0.0869 0.2351 0.2615 0.0990 0.0828 0.0290 0.2880 0.2406 0.2327 het 425.41 39 16 84695490 . C T 425.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.449;DP=39;Dels=0.00;FS=3.592;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.180;QD=10.91;ReadPosRankSum=-0.383;VQSLOD=6.1769;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,17:39:99:455,0,596 16 84808824 84808824 C G exonic USP10 synonymous SNV USP10:NM_005153:exon13:c.C2202G:p.L734L,USP10:NM_001272075:exon14:c.C2214G:p.L738L 0.44 0.31 0.38 0.51 0.62 0.39 0.5220 0.3238 0.3139 0.4965 0.5959 0.6104 0.5045 0.4123 0.53 0.34 0.61 0.48 . rs774298 COSM148135 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(cervix);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5162 0.3195 0.3375 0.4733 0.4906 0.6025 0.6167 0.5144 0.4096 0.5158 0.3344 0.3501 0.4702 0.4671 0.6053 0.6117 0.5809 het 953.44 81 16 84808824 . C G 953.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.940;DP=81;Dels=0.00;FS=5.833;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=0.316;QD=11.77;ReadPosRankSum=-1.119;VQSLOD=5.3024;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,41:81:99:983,0,1052 16 84879464 84879464 A G exonic CRISPLD2 nonsynonymous SNV CRISPLD2:NM_031476:exon3:c.A313G:p.S105G 0.37 0.41 0.35 0.19 0.44 0.45 0.3981 0.3985 0.2680 0.1857 0.4120 0.4339 0.4020 0.4494 0.42 0.4 0.43 0.35 0.34 rs12051468 . . . . . . . . . . . . . 0.388 0.109 T 0.0 0.102 B 0.005 0.145 B 0.617 0.108 N 1 0.090 P 0.435 0.127 N 2.91 0.100 T -1.26 0.344 N 0.013 0.002 -0.915 0.462 T 0.000 0.000 T . . . -1.841 0.010 0.002 0.513 0.045 0.021 0.062 N c -1.720 -1.755 1.000 0.747 0.635 0.417 0 -5.79 0.021 0.414 0.207 -1.092 0.019 0.000 0.063 0.045 0.161 3.983 0.089 CAP domain . . 0.3911 0.4006 0.2813 0.4118 0.1856 0.3992 0.4342 0.4050 0.4502 0.4077 0.3875 0.3074 0.42 0.1891 0.4140 0.4448 0.4426 het 964.68 86 16 84879464 . A G 964.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DP=86;Dels=0.00;FS=3.386;HRun=1;HaplotypeScore=3.4463;MQ=59.73;MQ0=0;MQRankSum=-0.334;QD=11.22;ReadPosRankSum=1.436;VQSLOD=5.5897;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,36:86:99:995,0,1355 16 84883102 84883102 C T exonic CRISPLD2 synonymous SNV CRISPLD2:NM_031476:exon4:c.C471T:p.P157P 0.59 0.29 0.65 0.68 0.73 0.74 0.6944 0.3324 0.6389 0.6918 0.7018 0.7451 0.7163 0.7538 0.6 0.34 0.74 0.54 0.8 rs8061351 COSM4129444 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6961 0.3282 0.6387 0.7305 0.6944 0.7076 0.7418 0.7181 0.7533 0.6216 0.3407 0.6352 0.73 0.6823 0.7278 0.7452 0.7035 het 1151.32 108 16 84883102 . C T 1151.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.241;DP=108;Dels=0.00;FS=6.170;HRun=0;HaplotypeScore=1.9650;MQ=57.83;MQ0=0;MQRankSum=0.479;QD=10.66;ReadPosRankSum=-1.287;VQSLOD=4.6378;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,48:108:99:1181,0,1634 16 84906098 84906098 C G exonic CRISPLD2 nonsynonymous SNV CRISPLD2:NM_031476:exon9:c.C965G:p.T322S 0.48 0.57 0.29 0.65 0.39 0.44 0.4080 0.5354 0.2609 0.6738 0.3399 0.3804 0.3811 0.4324 0.44 0.55 0.39 0.51 0.35 rs721005 COSM148136 1(stomach);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.633 0.069 T 0.46 0.345 P 0.284 0.387 B 0.000 0.843 N 0.010 0.435 P 1.45 0.368 L -2.44 0.888 D -1.35 0.356 N 0.034 0.455 -0.985 0.339 T 0.000 0.000 T . . . 1.633 0.258 14.03 0.564 0.054 0.920 0.544 D c -0.348 -0.259 0.999 0.382 0.615 0.372 0 5.01 0.663 5.451 0.662 0.852 0.362 0.987 0.361 0.370 0.249 14.201 0.651 LCCL domain . . 0.3977 0.5376 0.2738 0.3700 0.6730 0.3262 0.3820 0.3863 0.4287 0.4284 0.5376 0.3022 0.3675 0.7172 0.3259 0.3703 0.3585 het 1904.46 165 16 84906098 . C G 1904.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.147;DP=165;Dels=0.00;FS=0.583;HRun=0;HaplotypeScore=1.8675;MQ=59.22;MQ0=0;MQRankSum=0.360;QD=11.54;ReadPosRankSum=1.545;VQSLOD=6.1827;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,79:165:99:1934,0,2155 16 84922859 84922859 C T exonic CRISPLD2 synonymous SNV CRISPLD2:NM_031476:exon14:c.C1329T:p.A443A 0.68 0.72 0.57 0.86 0.55 0.67 0.5872 0.6759 0.6146 0.8549 0.4693 0.5337 0.5396 0.6375 0.58 0.67 0.54 0.73 0.51 rs767050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5835 0.6764 0.6107 0.5555 0.8590 0.4586 0.5331 0.5773 0.6367 0.5776 0.6740 0.6112 0.5397 0.8705 0.4691 0.5182 0.5163 het 3210.56 244 16 84922859 . C T 3210.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.258;DP=244;Dels=0.00;FS=2.863;HRun=0;HaplotypeScore=7.5583;MQ=59.45;MQ0=0;MQRankSum=1.107;QD=13.16;ReadPosRankSum=-1.184;VQSLOD=4.5342;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,122:244:99:3241,0,2966 16 85009970 85009970 A G exonic ZDHHC7 synonymous SNV ZDHHC7:NM_017740:exon8:c.T906C:p.G302G,ZDHHC7:NM_001145548:exon9:c.T1017C:p.G339G 0.7 0.95 0.74 0.63 0.5 0.61 0.5966 0.8900 0.7632 0.6125 0.4274 0.5276 0.5927 0.6334 0.64 0.88 0.52 0.73 0.47 rs7195377 COSM3755158;COSM3755159 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5924 0.8965 0.7523 0.5562 0.6123 0.4224 0.5265 0.5878 0.6305 0.6231 0.8900 0.7177 0.5464 0.6566 0.4134 0.5143 0.5397 het 2254.95 218 16 85009970 . A G 2254.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.049;DP=218;DS;Dels=0.00;FS=2.399;HRun=0;HaplotypeScore=4.5583;MQ=58.37;MQ0=1;MQRankSum=0.528;QD=10.34;ReadPosRankSum=-0.515;VQSLOD=5.0486;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:123,95:218:99:2285,0,3070 16 85711860 85711860 C T exonic GINS2 synonymous SNV GINS2:NM_016095:exon5:c.G516A:p.T172T 0.37 0.29 0.32 0.49 0.34 0.45 0.3780 0.2989 0.3629 0.5240 0.4309 0.3527 0.3359 0.4449 0.34 0.3 0.36 0.39 0.42 rs1053328 COSM5480180 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3779 0.2946 0.3538 0.2738 0.5159 0.4262 0.3591 0.3317 0.4431 0.3657 0.2911 0.3401 0.2417 0.5173 0.4370 0.3772 0.4071 het 1449.28 103 16 85711860 . C T 1449.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.723;DP=103;Dels=0.00;FS=2.703;HRun=2;HaplotypeScore=3.8814;MQ=59.40;MQ0=0;MQRankSum=1.597;QD=14.07;ReadPosRankSum=0.847;VQSLOD=5.4019;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,52:103:99:1479,0,1220 16 85834818 85834818 G A exonic COX4I1 nonsynonymous SNV COX4I1:NM_001318786:exon2:c.G7A:p.A3T,COX4I1:NM_001318788:exon2:c.G7A:p.A3T,COX4I1:NM_001318794:exon2:c.G7A:p.A3T,COX4I1:NM_001861:exon2:c.G7A:p.A3T 0.13 0.12 0.079 0.31 0.048 0.085 0.0906 0.1000 0.1632 0.3118 0.0445 0.0518 0.0694 0.0947 0.072 0.1 0.056 0.054 0.098 rs11557187 COSM4418235 1(haematopoietic_and_lymphoid_tissue);6(soft_tissue) . . . . . . . . . . . 0.046 0.405 D 0.18 0.274 B 0.03 0.205 B 0.000 0.629 D 0.000 0.516 P 1.34 0.335 L 0.85 0.515 T -3.33 0.662 D 0.139 0.430 -1.001 0.297 T 0.000 0.000 T . . . 3.231 0.447 22.8 0.996 0.766 0.904 0.512 D c -0.208 -0.053 1.000 0.747 0.722 0.854 0 3.41 0.380 3.020 0.491 1.048 0.713 1.000 0.715 0.997 0.653 6.352 0.205 . ENSG00000131148.4|ENSG00000131143.4 Nerve_Tibial|Testis 0.0934 0.1005 0.1529 0.0666 0.3159 0.0480 0.0527 0.0644 0.0950 0.0861 0.1025 0.1241 0.0533 0.3078 0.0501 0.0607 0.0672 het 2604.78 249 16 85834818 . G A 2604.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.473;DP=249;DS;Dels=0.00;FS=1.032;HRun=0;HaplotypeScore=0.9983;MQ=59.00;MQ0=0;MQRankSum=3.571;QD=10.46;ReadPosRankSum=0.307;VQSLOD=3.8091;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:138,111:249:99:2635,0,3586 16 85838653 85838653 T C exonic COX4I1 synonymous SNV COX4I1:NM_001318786:exon3:c.T184C:p.L62L,COX4I1:NM_001318788:exon3:c.T184C:p.L62L,COX4I1:NM_001318794:exon3:c.T184C:p.L62L,COX4I1:NM_001318797:exon3:c.T70C:p.L24L,COX4I1:NM_001861:exon3:c.T184C:p.L62L 0.98 0.92 0.99 1. 1. 1. 0.9921 0.9105 0.9978 1 0.9998 1.0000 0.9978 0.9999 0.97 0.92 1. 0.96 1. rs2599091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9938 0.9098 0.9969 1 1 1.0000 0.9999 0.9973 0.9998 0.9733 0.9063 0.9988 1 1 1 0.9999 0.9939 hom 1929.53 62 16 85838653 . T C 1929.53 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=31.12;VQSLOD=9.7376;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1963,156,0 16 86565826 86565826 C G exonic MTHFSD nonsynonymous SNV MTHFSD:NM_001159377:exon8:c.G943C:p.G315R,MTHFSD:NM_001159378:exon8:c.G943C:p.G315R,MTHFSD:NM_001159379:exon8:c.G940C:p.G314R,MTHFSD:NM_001159380:exon8:c.G883C:p.G295R,MTHFSD:NM_022764:exon8:c.G940C:p.G314R 0.89 0.92 0.91 0.86 0.91 0.88 0.9021 0.9107 0.9142 0.8680 0.9537 0.9003 0.9030 0.8966 0.9 0.91 0.9 0.84 0.55 rs3751803 . . . . . . . . . . . . . 0.444 0.116 T 0.001 0.067 B 0.004 0.093 B 0.578 0.055 N 1 0.090 P -0.94 0.013 N 2.46 0.149 T 0.32 0.042 N 0.064 0.067 -1.033 0.196 T 0.000 0.000 T . . . 0.004 0.094 2.623 0.292 0.015 0.029 0.076 N c -1.494 -1.427 0.017 0.129 0.646 0.450 0 -0.307 0.121 0.397 0.205 -1.157 0.017 0.023 0.197 0.003 0.074 6.549 0.215 Nucleotide-binding alpha-beta plait domain|RNA recognition motif domain ENSG00000270020.1|ENSG00000270020.1|ENSG00000176678.4|ENSG00000270020.1 Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Thyroid 0.9019 0.9065 0.9122 0.8859 0.8622 0.9521 0.8990 0.9027 0.8884 0.9114 0.9018 0.9165 0.8808 0.8662 0.9587 0.9104 0.9232 hom 468.15 15 16 86565826 . C G 468.15 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.21;VQSLOD=13.1820;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:501,42,0 16 87445363 87445363 G A exonic ZCCHC14 synonymous SNV ZCCHC14:NM_015144:exon12:c.C2553T:p.H851H 0.15 0.054 0.22 0.002 0.45 0.068 0.3135 0.1139 0.1714 0.0005 0.4488 0.4471 0.3161 0.1044 0.33 0.12 0.44 0.12 0.38 rs1050846 COSM3755170;COSM3755169 1(thyroid);1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3043 0.1043 0.1829 0.3151 0.0005 0.4295 0.4449 0.3362 0.1021 0.3124 0.1100 0.2291 0.3311 0.0006 0.4341 0.4343 0.4 hom 1495.56 45 16 87445363 . G A 1495.56 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=33.23;VQSLOD=9.4018;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1529,132,0 16 87445839 87445839 C T exonic ZCCHC14 nonsynonymous SNV ZCCHC14:NM_015144:exon12:c.G2077A:p.V693M 0.46 0.11 0.53 0.31 0.76 0.73 0.6463 0.2179 0.4606 0.3014 0.7681 0.7547 0.6807 0.7276 0.58 0.24 0.76 0.27 0.72 rs3748400 COSM3765942 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.997 0.850 D 0.000 0.629 D 0.235 0.341 P 1.545 0.392 L 1.77 0.258 T -0.46 0.150 N 0.209 0.256 -1.103 0.038 T 0.000 0.000 T . . . 4.298 0.576 24.0 0.999 0.932 0.904 0.513 D c 0.275 0.283 0.981 0.302 0.707 0.730 0 4.51 0.544 1.441 0.344 0.935 0.490 0.812 0.296 0.998 0.697 12.129 0.530 . ENSG00000140941.8 Artery_Tibial 0.6436 0.2037 0.4747 0.6650 0.3075 0.7712 0.7570 0.6533 0.7263 0.5713 0.2190 0.5310 0.6722 0.2971 0.7698 0.7504 0.7141 hom 2835.98 86 16 87445839 . C T 2835.98 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;QD=32.98;VQSLOD=9.9954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2869,238,0 16 87446053 87446053 G A exonic ZCCHC14 synonymous SNV ZCCHC14:NM_015144:exon12:c.C1863T:p.A621A 0.46 0.11 0.52 0.31 0.76 0.73 0.6429 0.2145 0.4584 0.3027 0.7657 0.7506 0.6748 0.7294 0.58 0.24 0.76 0.3 0.73 rs2042395 COSM329616 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6417 0.2027 0.4733 0.6554 0.3067 0.7699 0.7530 0.6516 0.7280 0.5689 0.2177 0.5251 0.6623 0.3015 0.7668 0.7466 0.7131 hom 4414.10 125 16 87446053 . G A 4414.10 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3492;MQ=59.45;MQ0=0;QD=35.31;VQSLOD=8.5110;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:4414,349,0 16 87723838 87723838 T C exonic JPH3 synonymous SNV JPH3:NM_020655:exon4:c.T1872C:p.H624H 0.44 0.71 0.43 0.27 0.32 0.39 0.4383 0.6778 0.5175 0.325 0.4812 0.3934 0.3989 0.4285 0.4 0.62 0.29 0.49 0.2 rs34767155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3544 0.6441 0.4354 0.3151 0.2324 0.3677 0.3045 0.3328 0.3798 0.4219 0.6523 0.4427 0.2848 0.2435 0.3708 0.3240 0.3730 het 345.71 30 16 87723838 . T C 345.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.733;DP=30;Dels=0.00;FS=3.471;HRun=4;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;MQRankSum=1.037;QD=11.52;ReadPosRankSum=1.701;VQSLOD=5.2923;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,15:30:99:376,0,324 16 88052161 88052161 C A exonic BANP synonymous SNV BANP:NM_001173540:exon6:c.C684A:p.L228L,BANP:NM_001173541:exon6:c.C666A:p.L222L,BANP:NM_017869:exon6:c.C666A:p.L222L,BANP:NM_079837:exon6:c.C666A:p.L222L,BANP:NM_001173539:exon7:c.C783A:p.L261L,BANP:NM_001173542:exon7:c.C783A:p.L261L,BANP:NM_001173543:exon7:c.C759A:p.L253L 0.58 0.33 0.58 0.52 0.81 0.75 0.7242 0.3973 0.5909 0.5154 0.7460 0.8087 0.7066 0.7681 0.67 0.4 0.81 0.4 0.7 rs7499814 COSM3755185;COSM3755183;COSM3755184 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7163 0.3709 0.5788 0.7841 0.4970 0.7436 0.8133 0.7277 0.7655 0.6552 0.3788 0.6328 0.7333 0.4981 0.7487 0.8052 0.7320 het 624.95 47 16 88052161 . C A 624.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.846;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.60;MQ0=0;MQRankSum=-0.544;QD=13.30;ReadPosRankSum=-1.716;VQSLOD=6.1439;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,22:47:99:655,0,774 16 88061150 88061150 C T exonic BANP synonymous SNV BANP:NM_001173540:exon7:c.C858T:p.I286I,BANP:NM_001173541:exon7:c.C840T:p.I280I,BANP:NM_017869:exon7:c.C840T:p.I280I,BANP:NM_079837:exon7:c.C840T:p.I280I,BANP:NM_001173539:exon8:c.C957T:p.I319I,BANP:NM_001173542:exon8:c.C957T:p.I319I,BANP:NM_001173543:exon8:c.C933T:p.I311I 0.37 0.36 0.45 0.55 0.27 0.27 0.3138 0.3489 0.4509 0.5803 0.3561 0.2580 0.3543 0.2621 0.28 0.34 0.24 0.43 0.34 rs74740586 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3187 0.3514 0.4479 0.2596 0.5821 0.3530 0.2491 0.3240 0.2597 0.3128 0.3435 0.3938 0.2980 0.5667 0.3490 0.2548 0.3145 het 1405.66 167 16 88061150 . C T 1405.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.084;DP=167;Dels=0.00;FS=0.605;HRun=1;HaplotypeScore=2.5708;MQ=56.17;MQ0=1;MQRankSum=1.919;QD=8.42;ReadPosRankSum=0.785;VQSLOD=2.3831;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,60:167:99:1436,0,2649 16 88105725 88105725 G A exonic BANP synonymous SNV BANP:NM_001173541:exon11:c.G1236A:p.A412A,BANP:NM_017869:exon11:c.G1245A:p.A415A,BANP:NM_001173539:exon12:c.G1353A:p.A451A,BANP:NM_001173540:exon12:c.G1329A:p.A443A,BANP:NM_001173542:exon12:c.G1362A:p.A454A,BANP:NM_079837:exon12:c.G1311A:p.A437A,BANP:NM_001173543:exon13:c.G1395A:p.A465A 0.45 0.53 0.38 0.3 0.54 0.48 0.5497 0.5935 0.4274 0.3461 0.5906 0.5859 0.5726 0.5321 0.54 0.55 0.54 0.47 0.39 rs8050209 COSM3749387;COSM3749386;COSM3749385 1(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4787 0.5388 0.3251 0.5452 0.2759 0.4928 0.5390 0.5043 0.4997 0.5038 0.5430 0.3672 0.5467 0.2754 0.4966 0.5167 0.4671 het 219.03 28 16 88105725 . G A 219.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.455;DP=28;Dels=0.00;FS=3.916;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.072;QD=7.82;ReadPosRankSum=-0.647;VQSLOD=5.5621;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,10:28:99:249,0,466 16 88552370 88552370 A G exonic ZFPM1 nonsynonymous SNV ZFPM1:NM_153813:exon2:c.A64G:p.R22G 0.53 0.74 0.56 0.49 0.36 0.46 0.4487 0.7039 0.6500 0.4964 0.3608 0.3734 0.4489 0.4596 0.48 0.69 0.38 0.66 0.24 rs3751673 COSM4129478 1(thyroid) . . . . . . . . . . . 0.917 0.023 T 0.0 0.026 B 0.0 0.013 B 0.048 0.020 N 1 0.090 P -0.49 0.026 N 3.3 0.064 T 1.13 0.012 N 0.006 0.002 -0.965 0.383 T 0.000 0.000 T . . . -1.489 0.017 0.003 0.227 0.009 0.005 0.025 N c -2.203 -2.171 0.982 0.303 0.646 0.450 0 -5.43 0.024 -1.008 0.037 -2.330 0.003 0.000 0.063 0.011 0.114 4.763 0.124 . . . 0.4485 0.7087 0.6265 0.3681 0.4926 0.3737 0.3739 0.4238 0.4538 0.4796 0.6989 0.5644 0.3709 0.4944 0.3794 0.3743 0.4312 het 652.78 67 16 88552370 . A G 652.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.445;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4479;MQ=59.31;MQ0=0;MQRankSum=1.095;QD=9.74;ReadPosRankSum=1.238;VQSLOD=5.6183;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,25:67:99:683,0,1076 16 88594567 88594567 C T exonic ZFPM1 synonymous SNV ZFPM1:NM_153813:exon6:c.C633T:p.C211C 0.13 0.0098 0.13 0.36 0.09 0.077 0.1280 0.0317 0.1839 0.3651 0.1983 0.1032 0.1283 0.0806 0.059 0.019 0.08 0.14 0.041 rs35121729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1042 0.0214 0.1362 0.0921 0.3243 0.1312 0.0769 0.1000 0.0670 0.0854 0.0201 0.1352 0.0861 0.3412 0.1307 0.0819 0.0941 het 361.71 25 16 88594567 . C T 361.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.023;DP=25;Dels=0.00;FS=1.685;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.971;QD=14.47;ReadPosRankSum=0.416;VQSLOD=5.6007;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,15:25:99:392,0,249 16 88599023 88599023 A G exonic ZFPM1 synonymous SNV ZFPM1:NM_153813:exon8:c.A948G:p.G316G 0.15 0.074 0.15 0.36 0.097 0.082 0.1404 0.1139 0.2522 0.4313 0.3114 0.1383 0.1360 0.0838 0.077 0.079 0.076 0.17 0.033 rs56041036 COSM435907 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1091 0.0844 0.1381 0.0950 0.3138 0.1278 0.0778 0.1040 0.0730 0.1068 0.0911 0.1468 0.0927 0.3383 0.1293 0.0841 0.1004 het 107.24 15 16 88599023 . A G 107.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.286;DP=15;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55.53;MQ0=0;MQRankSum=0.674;QD=7.15;ReadPosRankSum=-1.531;VQSLOD=4.9309;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:15:99:137,0,286 16 88644005 88644005 A G exonic ZC3H18 synonymous SNV ZC3H18:NM_001294340:exon2:c.A474G:p.K158K,ZC3H18:NM_144604:exon2:c.A474G:p.K158K 0.86 0.85 0.92 0.94 0.91 0.72 0.8917 0.8512 0.9495 0.9459 0.9593 0.9061 0.8848 0.7635 0.89 0.85 0.91 0.87 0.87 rs899728 COSM3755195 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8949 0.8426 0.9488 0.8778 0.9480 0.9544 0.9034 0.9056 0.7620 0.8969 0.8460 0.9344 0.8676 0.9604 0.9656 0.9010 0.9145 het 751.26 52 16 88644005 . A G 751.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.395;DP=52;Dels=0.00;FS=2.626;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.486;QD=14.45;ReadPosRankSum=0.413;VQSLOD=6.4652;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,28:52:99:781,0,681 16 88713236 88713236 A G exonic CYBA nonsynonymous SNV CYBA:NM_000101:exon4:c.T214C:p.Y72H 0.66 0.49 0.69 0.92 0.66 0.62 0.6908 0.5487 0.7754 0.9123 0.8181 0.6708 0.6982 0.6339 0.62 0.55 0.66 0.66 0.66 rs4673 COSM3755197 2(large_intestine) Benign|Benign CYBA_POLYMORPHISM|not_specified RCV000002351.2|RCV000249071.1 MedGen CN169374 . . . . . . 0.311 0.321 T 1.0 0.899 D 0.999 0.916 D 0.000 0.537 N 0.046 0.378 P 2.515 0.735 M -2.1 0.862 D -2.53 0.577 D 0.432 0.591 -0.917 0.460 T 0.000 0.000 T . . . 1.188 0.209 11.69 0.994 0.638 0.961 0.674 D c 0.303 0.189 1.000 0.747 0.632 0.406 0 3.46 0.386 4.218 0.581 1.076 0.850 1.000 0.715 0.892 0.376 8.066 0.296 . ENSG00000158717.6|ENSG00000141012.8 Lung|Skin_Sun_Exposed_Lower_leg 0.6975 0.5494 0.7710 0.5677 0.9139 0.8211 0.6678 0.6710 0.6347 0.6663 0.5411 0.7303 0.5762 0.9082 0.8197 0.6728 0.7041 het 1189.64 84 16 88713236 . A G 1189.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.453;DP=84;Dels=0.00;FS=3.061;HRun=0;HaplotypeScore=0.5784;MQ=59.39;MQ0=0;MQRankSum=1.110;QD=14.16;ReadPosRankSum=0.283;VQSLOD=6.6015;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,46:84:99:1220,0,930 16 88717386 88717386 T C exonic CYBA synonymous SNV CYBA:NM_000101:exon1:c.A36G:p.E12E 1. 0.98 1. 1. 1. 1. 0.9991 0.9888 0.9994 1 1 1.0000 1 1 1. 0.99 1. 0.66 0.67 rs8053867 COSM4129484 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 0.9882 0.9995 1 1 1 1.0000 0.9998 1 0.9967 0.9883 0.9988 1 1 1 1 1 hom 567.45 18 16 88717386 . T C 567.45 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=31.53;VQSLOD=8.8802;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:48.14:600,48,0 16 88724347 88724347 G T exonic MVD synonymous SNV MVD:NM_002461:exon3:c.C232A:p.R78R 0.5 0.26 0.71 0.64 0.64 0.37 0.6058 0.3285 0.7783 0.6191 0.7005 0.6538 0.6486 0.4173 0.55 0.34 0.66 0.32 0.55 rs2279258 COSM3755198 3(haematopoietic_and_lymphoid_tissue);2(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6186 0.3168 0.7702 0.5718 0.6161 0.6983 0.6580 0.6448 0.4140 0.5729 0.3193 0.7249 0.5960 0.6380 0.6996 0.6731 0.6018 hom 3270.76 105 16 88724347 . G T 3270.76 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=31.15;VQSLOD=9.2547;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3270,256,0 16 88779132 88779132 C T exonic CTU2 nonsynonymous SNV CTU2:NM_001318513:exon6:c.C295T:p.H99Y,CTU2:NM_001012759:exon7:c.C556T:p.H186Y,CTU2:NM_001012762:exon7:c.C556T:p.H186Y,CTU2:NM_001318507:exon7:c.C769T:p.H257Y 0.12 0.23 0.078 0.06 0.11 0.067 0.1086 0.2197 0.0669 0.0535 0.0531 0.1195 0.0952 0.0829 0.15 0.22 0.12 0.17 0.041 rs2290895 COSM5714617;COSM5714615;COSM5714616 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.03 0.453 D 0.868 0.458 P 0.341 0.407 B 0.196 0.167 N 0.998 0.221 P 2.14 0.601 M 2.51 0.150 T -1.97 0.456 N 0.082 0.244 -0.974 0.363 T 0.000 0.000 T . . . 3.512 0.480 23.1 0.993 0.566 0.261 0.227 N c -0.267 -0.300 0.990 0.321 0.672 0.522 0 3.49 0.389 1.218 0.319 0.935 0.490 0.007 0.175 0.972 0.466 12.848 0.570 . ENSG00000174177.8|ENSG00000174177.8|ENSG00000174177.8|ENSG00000158717.6|ENSG00000174177.8|ENSG00000174177.8 Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.1029 0.2177 0.0749 0.1492 0.0563 0.0515 0.1164 0.1160 0.0776 0.1234 0.2081 0.1062 0.1291 0.0531 0.0551 0.1009 0.0890 hom 998.63 33 16 88779132 . C T 998.63 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.26;VQSLOD=13.3234;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:84.25:1032,84,0 16 88779753 88779753 C T exonic CTU2 synonymous SNV CTU2:NM_001318513:exon7:c.C510T:p.H170H,CTU2:NM_001012759:exon8:c.C771T:p.H257H,CTU2:NM_001012762:exon8:c.C771T:p.H257H,CTU2:NM_001318507:exon8:c.C984T:p.H328H 0.12 0.23 0.081 0.061 0.11 0.057 0.1056 0.2128 0.0669 0.0545 0.0518 0.1176 0.0937 0.0676 0.16 0.22 0.12 0.18 0.057 rs73262667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1044 0.2243 0.0769 0.1507 0.0636 0.0518 0.119 0.1188 0.0658 0.1228 0.2067 0.1019 0.13 0.0520 0.0551 0.1013 0.0849 hom 2989.37 97 16 88779753 . C T 2989.37 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8494;MQ=58.79;MQ0=0;QD=30.82;VQSLOD=8.9096;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3022,241,0 16 88780090 88780090 G A exonic CTU2 synonymous SNV CTU2:NM_001318513:exon8:c.G648A:p.V216V,CTU2:NM_001012759:exon9:c.G909A:p.V303V,CTU2:NM_001012762:exon9:c.G909A:p.V303V,CTU2:NM_001318507:exon9:c.G1122A:p.V374V 0.14 0.23 0.086 0.062 0.14 0.16 0.1312 0.2169 0.0746 0.0547 0.0552 0.1367 0.1244 0.1663 0.17 0.22 0.14 0.2 0.12 rs2290904 COSM1479161;COSM3999974;COSM435916 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1267 0.2215 0.0845 0.2128 0.0575 0.0545 0.1336 0.1408 0.1627 0.1321 0.2107 0.1205 0.2020 0.0532 0.0570 0.1140 0.0982 hom 5036.42 160 16 88780090 . G A 5036.42 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0046;MQ=59.51;MQ0=0;QD=31.48;VQSLOD=8.8906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5035,424,0 16 88781125 88781125 T C exonic CTU2 synonymous SNV CTU2:NM_001318513:exon11:c.T1071C:p.C357C,CTU2:NM_001012759:exon12:c.T1332C:p.C444C,CTU2:NM_001012762:exon12:c.T1332C:p.C444C,CTU2:NM_001318507:exon12:c.T1545C:p.C515C 0.87 0.82 0.87 0.94 0.89 0.85 0.8929 0.8334 0.8805 0.9196 0.8729 0.9103 0.8890 0.8633 0.89 0.84 0.91 0.76 0.57 rs8043637 COSM3755203;COSM3755205;COSM3755204 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8919 0.8337 0.8821 0.9545 0.9186 0.8708 0.9060 0.8998 0.8608 0.8830 0.8407 0.8902 0.9503 0.9197 0.8694 0.9049 0.8852 hom 1666.27 50 16 88781125 . T C 1666.27 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=33.33;VQSLOD=8.8349;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1699,147,0 16 88872145 88872145 T C exonic CDT1 nonsynonymous SNV CDT1:NM_030928:exon5:c.T700C:p.C234R 1. 1. 1. 1. 1. 1. 0.9993 0.9999 0.9999 1 1 0.9988 1 1 1. 1. 1. 0.98 0.9 rs507329 . . other not_specified RCV000116652.3 MedGen CN169374 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.007 0.317 N 0.106 0.360 P -2.455 0.001 N 1.7 0.269 T 4.34 0.000 N 0.039 0.019 -0.972 0.368 T 0.000 0.000 T . . . -0.295 0.069 0.681 0.574 0.056 0.519 0.288 D c -1.120 -0.857 1.000 0.747 0.722 0.854 0 3.83 0.431 1.100 0.304 0.069 0.176 0.948 0.327 0.188 0.214 9.650 0.389 CDT1 Geminin-binding domain-like|Winged helix-turn-helix DNA-binding domain . . 0.9994 0.9997 0.9999 1 1 0.9999 0.9988 0.9998 1 0.9996 0.9998 1 1 1 0.9997 0.9995 0.9990 hom 1831.19 64 16 88872145 . T C 1831.19 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.28;MQ0=0;QD=28.61;VQSLOD=8.1215;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1864,156,0 16 88872229 88872229 A G exonic CDT1 nonsynonymous SNV CDT1:NM_030928:exon5:c.A784G:p.T262A 0.57 0.75 0.5 0.7 0.39 0.43 0.4442 0.7091 0.4236 0.7242 0.3400 0.3859 0.4470 0.4202 0.5 0.71 0.38 0.6 0.43 rs480727 COSM3765949 1(pancreas);1(liver) other not_specified RCV000116654.3 MedGen CN169374 . . . . . . 0.723 0.039 T 0.003 0.102 B 0.007 0.121 B 0.705 0.101 N 1 0.090 P 0.08 0.083 N 1.84 0.247 T -0.41 0.140 N 0.232 0.284 -1.004 0.287 T 0.000 0.000 T . . . -1.173 0.026 0.007 0.433 0.032 0.084 0.142 N c -1.457 -1.463 1.000 0.747 0.672 0.522 0 -1.33 0.086 -0.464 0.067 -0.529 0.049 0.000 0.063 0.000 0.016 5.538 0.162 CDT1 Geminin-binding domain-like|Winged helix-turn-helix DNA-binding domain ENSG00000141012.8|ENSG00000167515.6|ENSG00000167515.6|ENSG00000167515.6|ENSG00000141012.8 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.4400 0.7109 0.4325 0.5223 0.7229 0.3433 0.3792 0.4447 0.4186 0.4841 0.7062 0.4474 0.5298 0.7302 0.3454 0.3683 0.3827 het 383.81 41 16 88872229 . A G 383.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.465;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5458;MQ=60.00;MQ0=0;MQRankSum=0.521;QD=9.36;ReadPosRankSum=0.606;VQSLOD=6.0216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,18:41:99:414,0,566 16 88872511 88872511 T C exonic CDT1 synonymous SNV CDT1:NM_030928:exon6:c.T915C:p.H305H 0.87 0.99 0.78 0.88 0.78 0.86 0.8183 0.9623 0.6892 0.8942 0.7716 0.8028 0.8347 0.8512 0.85 0.95 0.79 0.9 0.7 rs510862 COSM3755220 1(thyroid);1(large_intestine) other not_specified RCV000116655.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7998 0.9638 0.6785 0.8650 0.8954 0.7423 0.7900 0.8015 0.8450 0.8308 0.9556 0.7146 0.8510 0.9142 0.7572 0.7749 0.7912 hom 870.81 34 16 88872511 . T C 870.81 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=25.61;VQSLOD=6.9904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:34:72.21:904,72,0 16 88874632 88874632 C G exonic CDT1 synonymous SNV CDT1:NM_030928:exon10:c.C1587G:p.L529L 0.55 0.75 0.49 0.66 0.38 0.4 0.4737 0.7188 0.4768 0.7143 0.4029 0.4159 0.4697 0.4267 0.48 0.71 0.37 0.65 0.43 rs572275 COSM3755221 1(liver);1(large_intestine) other not_specified RCV000116645.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4261 0.7071 0.4236 0.5178 0.6949 0.3393 0.3637 0.4288 0.3974 0.4733 0.7017 0.4390 0.5232 0.7093 0.3407 0.3528 0.3806 het 431.93 36 16 88874632 . C G 431.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.823;DP=36;Dels=0.03;FS=0.000;HRun=1;HaplotypeScore=3.6294;MQ=58.13;MQ0=0;MQRankSum=0.716;QD=11.67;ReadPosRankSum=2.085;VQSLOD=4.2472;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,16:36:99:462,0,521 16 89199651 89199651 G A exonic ACSF3 synonymous SNV ACSF3:NM_001284316:exon6:c.G552A:p.L184L,ACSF3:NM_001127214:exon7:c.G1347A:p.L449L,ACSF3:NM_001243279:exon8:c.G1347A:p.L449L,ACSF3:NM_174917:exon8:c.G1347A:p.L449L 0.15 0.029 0.26 0.011 0.36 0.14 0.2564 0.0645 0.1764 0.0065 0.2790 0.3542 0.2965 0.1581 0.26 0.073 0.36 0.17 0.24 rs12447947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2604 0.0601 0.1925 0.4660 0.0060 0.2701 0.3527 0.3274 0.1575 0.2337 0.0676 0.2333 0.4934 0.0086 0.2656 0.3403 0.2648 hom 2550.50 78 16 89199651 . G A 2550.50 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=32.70;VQSLOD=8.6618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2584,202,0 16 89293271 89293271 A C exonic ZNF778 nonsynonymous SNV ZNF778:NM_182531:exon6:c.A491C:p.K164T,ZNF778:NM_001201407:exon7:c.A575C:p.K192T 0.59 0.26 0.8 0.56 0.87 0.65 0.7686 0.3442 0.8070 0.5572 0.7504 0.8744 0.7661 0.6833 0.73 0.39 0.88 0.62 . rs28417933 COSM3999976;COSM3999977 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.233 0.181 T 0.736 0.409 P 0.094 0.286 B . . . 0.995 0.235 P -0.08 0.048 N 3.34 0.061 T 0.78 0.019 N 0.096 0.106 -1.071 0.092 T 0.000 0.000 T . . . 0.111 0.104 3.729 0.707 0.091 0.168 0.193 N c -0.939 -1.120 0.831 0.247 0.566 0.321 0 0.199 0.144 0.762 0.260 0.405 0.275 0.000 0.063 0.005 0.090 4.823 0.127 Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000259877.1|ENSG00000259877.1|ENSG00000259877.1|ENSG00000259877.1|ENSG00000259803.2|ENSG00000259877.1|ENSG00000259877.1|ENSG00000259877.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.7762 0.3371 0.8071 0.8866 0.5529 0.7492 0.8812 0.8111 0.6826 0.6949 0.3409 0.8062 0.9272 0.5705 0.7579 0.8836 0.7637 hom 3757.84 112 16 89293271 . A C 3757.84 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=33.55;VQSLOD=9.7654;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3758,292,0 16 89293614 89293614 A G exonic ZNF778 synonymous SNV ZNF778:NM_182531:exon6:c.A834G:p.E278E,ZNF778:NM_001201407:exon7:c.A918G:p.E306E 0.77 0.5 0.91 0.89 0.93 0.75 0.8687 0.5595 0.9377 0.8848 0.9411 0.9192 0.8694 0.7629 0.82 0.6 0.92 0.72 . rs4785626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8785 0.5583 0.9359 0.8965 0.8860 0.9375 0.9219 0.8969 0.7617 0.8223 0.5589 0.9153 0.9338 0.8770 0.9327 0.9311 0.8992 hom 2621.03 77 16 89293614 . A G 2621.03 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.04;VQSLOD=13.7329;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2654,214,0 16 89294184 89294184 G A exonic ZNF778 synonymous SNV ZNF778:NM_182531:exon6:c.G1404A:p.A468A,ZNF778:NM_001201407:exon7:c.G1488A:p.A496A 0.77 0.5 0.91 0.89 0.93 0.75 0.8668 0.5540 0.9365 0.8848 0.9412 0.9185 0.8678 0.7581 0.81 0.58 0.92 0.72 . rs4785627 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8771 0.5529 0.9347 0.8963 0.8857 0.9377 0.9213 0.8944 0.7569 0.8209 0.5542 0.9141 0.9338 0.8752 0.9327 0.9312 0.8986 hom 4750.73 144 16 89294184 . G A 4750.73 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.7681;MQ=59.23;MQ0=0;QD=32.99;VQSLOD=4.9502;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4750,370,0 16 89294381 89294381 T C exonic ZNF778 nonsynonymous SNV ZNF778:NM_182531:exon6:c.T1601C:p.I534T,ZNF778:NM_001201407:exon7:c.T1685C:p.I562T 0.7 0.5 0.82 0.71 0.87 0.71 0.8086 0.5482 0.8154 0.7060 0.8190 0.8779 0.7971 0.7299 0.78 0.58 0.88 0.67 . rs28415940 . . . . . . . . . . . . . 0.086 0.326 T 0.002 0.090 B 0.003 0.104 B . . . 1.000 0.090 P 0.055 0.082 N 3.21 0.071 T 1.29 0.010 N 0.027 0.009 -1.085 0.065 T 0.000 0.000 T . . . 1.491 0.242 13.27 0.978 0.354 0.002 0.013 N c -1.459 -1.485 0.060 0.152 0.707 0.730 0 -0.166 0.126 -3.985 0.004 -0.143 0.109 0.000 0.063 0.124 0.197 1.978 0.032 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000259877.1|ENSG00000259877.1|ENSG00000259877.1|ENSG00000259803.2|ENSG00000259877.1|ENSG00000259877.1|ENSG00000259877.1|ENSG00000259877.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.8142 0.5472 0.8160 0.8891 0.7021 0.8172 0.8827 0.8336 0.7293 0.7711 0.5480 0.8206 0.9305 0.7070 0.8184 0.8877 0.8119 hom 4116.37 122 16 89294381 . T C 4116.37 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9931;MQ=59.81;MQ0=0;QD=33.74;VQSLOD=9.3390;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4116,319,0 16 89294439 89294439 G T exonic ZNF778 nonsynonymous SNV ZNF778:NM_182531:exon6:c.G1659T:p.Q553H,ZNF778:NM_001201407:exon7:c.G1743T:p.Q581H 0.7 0.49 0.82 0.71 0.87 0.7 0.8071 0.5435 0.8130 0.7057 0.8189 0.8775 0.7949 0.7242 0.78 0.58 0.88 0.67 . rs9921361 COSM1380494;COSM5828478 1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 0.002 0.090 B 0.0 0.040 B . . . 1.000 0.195 P 1.38 0.345 L 2.2 0.186 T -1.35 0.336 N 0.032 0.012 -1.008 0.277 T 0.000 0.000 T . . . 4.039 0.543 23.7 0.982 0.390 0.012 0.043 N c -1.426 -1.498 0.192 0.180 0.563 0.310 0 -2.22 0.065 -2.234 0.013 -0.982 0.023 0.000 0.063 0.898 0.379 0.404 0.004 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000259877.1|ENSG00000259877.1|ENSG00000259877.1|ENSG00000259803.2|ENSG00000259877.1|ENSG00000259877.1|ENSG00000259877.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8129 0.5434 0.8142 0.8893 0.7018 0.8170 0.8825 0.8321 0.7244 0.7699 0.5439 0.8182 0.9305 0.7063 0.8183 0.8878 0.8108 hom 4834.41 156 16 89294439 . G T 4834.41 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.70;MQ0=0;QD=30.99;VQSLOD=9.1384;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4834,382,0 16 89294511 89294511 C T exonic ZNF778 synonymous SNV ZNF778:NM_182531:exon6:c.C1731T:p.T577T,ZNF778:NM_001201407:exon7:c.C1815T:p.T605T 0.77 0.5 0.91 0.89 0.93 0.75 0.8672 0.5547 0.9368 0.8849 0.9412 0.9190 0.8695 0.7592 0.81 0.58 0.92 0.72 . rs28638280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8775 0.5528 0.9353 0.8964 0.8858 0.9376 0.9217 0.8956 0.7581 0.8210 0.5544 0.9141 0.9338 0.8748 0.9327 0.9311 0.8992 hom 5214.62 157 16 89294511 . C T 5214.62 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.20;MQ0=0;QD=33.21;VQSLOD=9.1286;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5214,403,0 16 89294697 89294697 C T exonic ZNF778 synonymous SNV ZNF778:NM_182531:exon6:c.C1917T:p.H639H,ZNF778:NM_001201407:exon7:c.C2001T:p.H667H 0.7 0.49 0.82 0.71 0.87 0.7 0.8083 0.5444 0.8144 0.7046 0.8197 0.8785 0.7978 0.7297 0.78 0.56 0.88 0.67 . rs60437616 COSM3932465;COSM3932464 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8143 0.5444 0.8157 0.8889 0.7014 0.8171 0.8835 0.8330 0.7294 0.7708 0.5446 0.8242 0.93 0.7050 0.8185 0.8890 0.8143 hom 1783.79 55 16 89294697 . C T 1783.79 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;MQRankSum=1.669;QD=32.43;ReadPosRankSum=0.220;VQSLOD=9.1438;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,54:55:99:1817,123,0 16 89350038 89350038 G A exonic ANKRD11 nonsynonymous SNV ANKRD11:NM_001256183:exon9:c.C2912T:p.A971V,ANKRD11:NM_013275:exon9:c.C2912T:p.A971V,ANKRD11:NM_001256182:exon10:c.C2912T:p.A971V 0.53 0.62 0.6 0.16 0.68 0.59 0.6379 0.6362 0.5805 0.1835 0.5759 0.7192 0.6336 0.6131 0.7 0.64 0.73 0.63 0.84 rs2279348 COSM4416604 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.459 0.087 T 0.014 0.156 B 0.001 0.040 B 0.517 0.118 N 1 0.090 P 1.185 0.302 L 1.2 0.374 T -0.02 0.073 N 0.024 0.007 -0.978 0.354 T 0.000 0.000 T . . . 0.084 0.102 3.439 0.944 0.241 0.191 0.203 N c -1.421 -1.447 0.917 0.265 0.707 0.730 0 -3.5 0.044 0.597 0.236 -1.338 0.013 0.003 0.159 0.000 0.016 1.112 0.016 . . . 0.6361 0.6315 0.5810 0.8269 0.1795 0.5826 0.7220 0.6633 0.6125 0.6443 0.6321 0.6205 0.8775 0.1873 0.5913 0.7104 0.6364 hom 6409.31 221 16 89350038 . G A 6409.31 Mask AC=2;AF=1.00;AN=2;DP=221;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8629;MQ=59.53;MQ0=0;QD=29.00;VQSLOD=8.1814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:221:99:6382,532,0 16 89350178 89350178 G A exonic ANKRD11 synonymous SNV ANKRD11:NM_001256183:exon9:c.C2772T:p.T924T,ANKRD11:NM_013275:exon9:c.C2772T:p.T924T,ANKRD11:NM_001256182:exon10:c.C2772T:p.T924T 0.76 0.86 0.71 0.62 0.82 0.76 0.7981 0.8585 0.6649 0.6153 0.7936 0.8420 0.7952 0.7740 0.85 0.86 0.85 0.79 0.87 rs2279349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7930 0.8591 0.6697 0.9186 0.6114 0.7898 0.8422 0.8074 0.7777 0.8195 0.8567 0.7208 0.9470 0.6056 0.7905 0.8313 0.8102 hom 5470.27 171 16 89350178 . G A 5470.27 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6023;MQ=58.62;MQ0=0;QD=31.99;VQSLOD=9.3000;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5470,418,0 16 89613123 89613123 A G exonic SPG7 nonsynonymous SNV SPG7:NM_003119:exon11:c.A1507G:p.T503A 0.11 0.011 0.11 0.13 0.17 0.14 0.1507 0.0344 0.0910 0.1478 0.0919 0.1890 0.1674 0.1353 0.14 0.038 0.19 0.12 0.18 rs2292954 COSM3755234 1(pancreas);1(large_intestine) other|Likely benign not_specified|Spastic_Paraplegia\x2c_Recessive RCV000118409.3|RCV000369973.1 MedGen|MedGen CN169374|CN239433 . . . . . . 0.202 0.202 T 0.0 0.026 B 0.002 0.063 B 0.000 0.460 D 0.996 0.232 P -0.36 0.031 N -3.48 0.946 D -0.59 0.176 N 0.01 0.143 -0.928 0.444 T 0.002 0.007 T . . . 1.641 0.259 14.07 0.978 0.357 0.884 0.481 D c -0.370 -0.166 1.000 0.408 0.707 0.730 0 4.33 0.509 1.865 0.389 1.199 0.960 0.994 0.380 0.982 0.498 10.941 0.463 P-loop containing nucleoside triphosphate hydrolase ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000197912.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000197912.9|ENSG00000167526.9|ENSG00000197912.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000197912.9|ENSG00000167526.9|ENSG00000197912.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000197912.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.1482 0.0310 0.0878 0.2214 0.1460 0.0899 0.1898 0.1677 0.1379 0.1230 0.0346 0.1043 0.2417 0.1565 0.0968 0.1754 0.1276 hom 4045.32 123 16 89613123 . A G 4045.32 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.40;MQ0=0;QD=32.89;VQSLOD=8.5931;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4045,328,0 16 89620328 89620328 G A exonic SPG7 nonsynonymous SNV SPG7:NM_003119:exon15:c.G2063A:p.R688Q 0.11 0.0098 0.11 0.13 0.17 0.14 0.1509 0.0351 0.0913 0.1468 0.0917 0.1895 0.1689 0.1356 0.14 0.037 0.19 0.11 0.2 rs12960 COSM3755235 1(large_intestine) other|Likely benign not_specified|Spastic_Paraplegia\x2c_Recessive RCV000118410.3|RCV000338689.1 MedGen|MedGen CN169374|CN239433 . . . . . . 0.146 0.250 T 0.818 0.437 P 0.258 0.376 B 0.000 0.843 D 0.000 0.588 P 0.695 0.181 N -1.69 0.830 D -1.82 0.427 N 0.289 0.348 -1.051 0.142 T 0.001 0.003 T . . . 3.908 0.526 23.5 0.999 0.992 0.992 0.925 D c 0.251 0.362 1.000 0.747 0.672 0.522 0 5.21 0.719 9.610 0.978 0.953 0.551 1.000 0.715 0.348 0.245 17.776 0.884 Peptidase M41 ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000197912.9|ENSG00000197912.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000197912.9|ENSG00000167526.9|ENSG00000197912.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000197912.9|ENSG00000167526.9|ENSG00000197912.9|ENSG00000167526.9|ENSG00000167526.9|ENSG00000197912.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.1471 0.0309 0.0877 0.2187 0.1438 0.0893 0.1888 0.1649 0.1378 0.1226 0.0344 0.1062 0.2351 0.1592 0.0977 0.1746 0.1202 hom 3536.02 116 16 89620328 . G A 3536.02 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4646;MQ=58.92;MQ0=0;QD=30.48;VQSLOD=5.1285;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3536,274,0 16 89623405 89623405 C T exonic SPG7 synonymous SNV SPG7:NM_003119:exon17:c.C2292T:p.I764I 0.013 0.0053 0.02 . 0.035 0.0072 0.0295 0.0093 0.0176 0 0.0172 0.0451 0.0334 0.0079 0.034 0.0098 0.046 . 0.066 rs61747711 . . Benign|Benign not_specified|Spastic_paraplegia_7 RCV000128211.2|RCV000459963.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1846564:607259:ORPHA99013 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0286 0.0089 0.0185 0.0616 0 0.0161 0.0435 0.0377 0.0084 0.0252 0.0101 0.0203 0.0662 0 0.0163 0.0388 0.0183 het 2019 129 16 89623405 . C T 2019 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.262;DP=129;DS;Dels=0.00;FS=10.253;HRun=1;HaplotypeScore=4.2272;MQ=59.81;MQ0=0;MQRankSum=0.351;QD=15.65;ReadPosRankSum=0.149;VQSLOD=4.1849;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,68:129:99:2049,0,1574 16 89627460 89627460 T G exonic RPL13 synonymous SNV RPL13:NM_033251:exon1:c.T93G:p.R31R,RPL13:NM_000977:exon2:c.T93G:p.R31R,RPL13:NM_001243130:exon2:c.T93G:p.R31R,RPL13:NM_001243131:exon2:c.T93G:p.R31R 0.19 0.3 0.13 0.15 0.17 0.16 0.1904 0.3061 0.1176 0.1686 0.1186 0.2052 0.2248 0.1577 0.2 0.26 0.18 0.22 0.12 rs2280370 COSM1380535 1(oesophagus);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1664 0.2779 0.1024 0.2208 0.1542 0.0919 0.1916 0.1809 0.1475 0.1988 0.2829 0.1274 0.2267 0.1718 0.0999 0.1832 0.1417 hom 586.20 20 16 89627460 . T G 586.20 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.56;MQ0=0;QD=29.31;VQSLOD=7.3286;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.15:619,48,0 16 89662990 89662990 T C exonic CPNE7 synonymous SNV CPNE7:NM_153636:exon15:c.T1638C:p.G546G,CPNE7:NM_014427:exon17:c.T1863C:p.G621G 0.47 0.57 0.4 0.83 0.19 0.31 0.3098 0.5068 0.5137 0.8127 0.25 0.1901 0.2650 0.2812 0.29 0.48 0.19 0.51 0.21 rs694285 COSM1380543 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3080 0.5064 0.4783 0.2002 0.8118 0.2406 0.1841 0.2645 0.2756 0.3202 0.4939 0.4332 0.2095 0.8051 0.2395 0.1834 0.2806 het 809.50 79 16 89662990 . T C 809.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DP=79;Dels=0.00;FS=4.159;HRun=0;HaplotypeScore=3.7870;MQ=59.23;MQ0=0;MQRankSum=0.183;QD=10.25;ReadPosRankSum=0.925;VQSLOD=4.7618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,34:79:99:839,0,1137 16 89776278 89776278 C T exonic VPS9D1 nonsynonymous SNV VPS9D1:NM_004913:exon11:c.G1295A:p.G432D . . . . . . 9.248e-05 0 8.648e-05 0 0 0.0002 0 0 0.0002 . 0.0002 . . rs200733163 . . . . . . . . . . . . . 0.617 0.053 T 0.501 0.353 P 0.086 0.280 B 0.031 0.253 N 0.979 0.252 N 1.995 0.543 M 1.55 0.299 T 0.5 0.030 N 0.186 0.387 -1.052 0.139 T 0.058 0.244 T 0.009 0.229 T 2.143 0.319 17.13 0.961 0.282 0.940 0.597 D c -0.021 0.065 1.000 0.747 0.726 0.872 0 4.31 0.505 1.449 0.345 0.935 0.490 0.995 0.385 0.972 0.466 8.178 0.303 . . . 0.0001 0 0.0002 0 0 0 0.0002 0.0002 0 0.0001 0 0 0 0 0 0.0003 0 het 2397.94 176 16 89776278 . C T 2397.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.415;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6898;MQ=59.32;MQ0=0;MQRankSum=0.921;QD=13.62;ReadPosRankSum=0.384;VQSLOD=4.5871;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,100:176:99:2428,0,2003 16 89782989 89782989 A G exonic VPS9D1 synonymous SNV VPS9D1:NM_004913:exon4:c.T312C:p.I104I 0.9 0.9 0.98 0.74 0.99 0.9 0.9514 0.8930 0.9820 0.7710 0.9867 0.9819 0.9588 0.9211 0.96 0.91 0.98 0.91 0.88 rs7206570 COSM4129523 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9536 0.8875 0.9844 0.9731 0.7681 0.9860 0.9821 0.9608 0.9223 0.9459 0.8900 0.9761 0.9834 0.7658 0.9854 0.9848 0.9663 hom 6574.34 204 16 89782989 . A G 6574.34 Mask AC=2;AF=1.00;AN=2;DP=204;DS;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=7.6262;MQ=58.70;MQ0=0;QD=32.23;VQSLOD=5.5127;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:6573,530,0 16 89783187 89783187 C T exonic VPS9D1 synonymous SNV VPS9D1:NM_004913:exon3:c.G219A:p.K73K 0.97 0.92 0.99 1. 1. 1. 0.9906 0.9121 0.9906 0.9999 1 0.9978 0.9932 0.9990 0.97 0.93 1. 0.92 0.85 rs4785706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9915 0.9093 0.9907 0.9910 0.9999 1 0.9983 0.9905 0.9990 0.9739 0.9117 0.9881 0.9934 1 0.9997 0.9989 0.9929 hom 1008.47 35 16 89783187 . C T 1008.47 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.02;MQ0=0;QD=28.81;VQSLOD=7.8086;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:35:81.25:1041,81,0 16 89971469 89971469 C T exonic TCF25 synonymous SNV TCF25:NM_014972:exon14:c.C1593T:p.D531D 0.008 0.0008 0.016 . 0.028 . 0.0262 0.0058 0.0219 0.0002 0.0240 0.0403 0.0256 0.0009 0.02 0.0039 0.029 0.011 0.0082 rs144937287 COSM3765962;COSM3765963 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0163 0.0036 0.0149 0.0124 6.209e-05 0.0094 0.0271 0.0190 0.0006 0.0137 0.0047 0.0179 0.0132 0.0012 0.0112 0.0208 0.0122 het 161.68 12 16 89971469 . C T 161.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DP=12;Dels=0.00;FS=2.533;HRun=0;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;MQRankSum=1.635;QD=13.47;ReadPosRankSum=1.134;VQSLOD=2.3155;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,7:12:99:192,0,118 16 89985844 89985844 G T exonic MC1R nonsynonymous SNV MC1R:NM_002386:exon1:c.G178T:p.V60L 0.035 0.0053 0.072 . 0.11 0.0072 0.0832 0.0196 0.0606 0.0001 0.0556 0.1279 0.1065 0.0107 0.096 0.023 0.13 0.033 . rs1805005 COSM3765964 1(liver) other|Benign|Benign Skin/hair/eye_pigmentation_2\x2c_blond_hair/fair_skin|not_specified|Malignant_Melanoma_Susceptibility RCV000015384.26|RCV000242490.1|RCV000276119.1 MedGen|MedGen|MedGen C2675047|CN169374|CN239477 . . . . . . 0.0 0.912 D 0.988 0.604 D 0.951 0.672 D 0.004 0.340 U 0.008 0.414 P 1.145 0.292 L -0.5 0.705 T -1.7 0.404 N 0.109 0.480 -0.990 0.326 T 0.008 0.028 T . . . 2.417 0.352 18.93 0.997 0.784 0.808 0.401 D c 0.306 0.262 1.000 0.747 0.583 0.331 0 4.86 0.625 3.875 0.556 0.953 0.551 1.000 0.715 0.718 0.314 16.975 0.861 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000167526.9|ENSG00000167526.9|ENSG00000140995.12 Esophagus_Muscularis|Stomach|Thyroid 0.0849 0.0174 0.0628 0.2858 0 0.0556 0.1209 0.1156 0.0114 0.0694 0.0226 0.0740 0.2848 0.0012 0.0553 0.1026 0.0713 hom 3120.45 100 16 89985844 . G T 3120.45 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8548;MQ=59.14;MQ0=0;QD=31.20;VQSLOD=8.4736;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3153,259,0 16 90102835 90102835 A G exonic GAS8 synonymous SNV GAS8:NM_001286208:exon5:c.A21G:p.E7E,GAS8:NM_001286205:exon6:c.A348G:p.E116E,GAS8:NM_001286209:exon6:c.A522G:p.E174E,GAS8:NM_001481:exon6:c.A597G:p.E199E 0.26 0.39 0.25 0.0079 0.39 0.24 0.3240 0.3826 0.1954 0.0076 0.2920 0.3925 0.3282 0.2784 0.4 0.39 0.41 0.33 0.33 rs868045 . . Benign not_specified RCV000454980.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3203 0.3837 0.2100 0.4932 0.0085 0.2867 0.3960 0.3350 0.2759 0.3469 0.3803 0.25 0.4901 0.0117 0.2858 0.3823 0.3187 hom 4387.03 141 16 90102835 . A G 4387.03 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6919;MQ=57.58;MQ0=0;QD=31.11;VQSLOD=6.4376;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4387,334,0 16 90109711 90109711 A G exonic GAS8 synonymous SNV GAS8:NM_001286208:exon10:c.A819G:p.T273T,GAS8:NM_001286205:exon11:c.A1146G:p.T382T,GAS8:NM_001286209:exon11:c.A1320G:p.T440T,GAS8:NM_001481:exon11:c.A1395G:p.T465T 0.84 0.98 0.81 0.85 0.74 0.79 0.7945 0.9615 0.8533 0.8181 0.8270 0.7581 0.7779 0.7711 0.83 0.96 0.76 0.83 0.57 rs3743825 . . Benign not_specified RCV000454877.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7945 0.9639 0.8417 0.8310 0.8167 0.8245 0.7519 0.7686 0.7692 0.8255 0.9569 0.8067 0.8113 0.8203 0.8170 0.7540 0.8064 hom 3455.79 112 16 90109711 . A G 3455.79 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=58.88;MQ0=0;QD=30.86;VQSLOD=8.6097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3455,283,0 16 90141355 90141355 A C exonic PRDM7 nonsynonymous SNV PRDM7:NM_001098173:exon3:c.T270G:p.D90E 0.39 0.16 0.51 0.19 0.68 0.53 0.5567 0.2065 0.4665 0.2051 0.5379 0.6666 0.59 0.5724 0.54 0.24 0.68 0.35 . rs12925933 . . . . . . . . . . . . . 0.006 0.614 D 0.999 0.764 D 0.991 0.782 D . . . 1 0.090 P 2.915 0.845 M 2.77 0.114 T -1.17 0.299 N 0.075 0.065 -0.958 0.396 T 0.000 0.000 T . . . 3.426 0.470 23.0 0.991 0.519 0.125 0.171 N c -0.192 -0.414 0.065 0.154 0.554 0.246 0 0.141 0.140 0.659 0.245 0.697 0.298 0.998 0.411 0.658 0.300 3.472 0.071 . ENSG00000003249.9|ENSG00000141013.10|ENSG00000222019.3|ENSG00000003249.9|ENSG00000260528.2|ENSG00000261172.1 Lung|Muscle_Skeletal|Muscle_Skeletal|Thyroid|Whole_Blood|Whole_Blood 0.5563 0.1955 0.4657 0.6916 0.2080 0.5324 0.6717 0.6161 0.5738 0.4847 0.1995 0.5048 0.6987 0.2030 0.5337 0.6620 0.5360 hom 3121.12 110 16 90141355 . A C 3121.12 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.385;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4725;MQ=54.87;MQ0=1;MQRankSum=-0.898;QD=28.37;ReadPosRankSum=-1.443;VQSLOD=3.9233;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,109:110:99:3154,212,0 17 69519 69519 T C exonic RPH3AL nonsynonymous SNV RPH3AL:NM_001190413:exon6:c.A535G:p.S179G,RPH3AL:NM_001190411:exon7:c.A622G:p.S208G,RPH3AL:NM_001190412:exon7:c.A535G:p.S179G,RPH3AL:NM_006987:exon8:c.A622G:p.S208G 0.0016 . 0.0043 . 0.005 . 0.0029 0.0005 0.0029 0 0.0008 0.0046 0.0044 0 0.0031 0.0009 0.0042 . . rs144069985 . . . . . . . . . . . . . 0.005 0.632 D 0.956 0.559 P 0.899 0.703 P 0.000 0.843 D 0.983 0.309 N 2.195 0.620 M . . . -1.42 0.350 N 0.288 0.347 -0.761 0.574 T 0.164 0.502 T 0.005 0.142 T 5.255 0.710 25.7 0.998 0.849 0.594 0.306 D c 0.323 0.250 0.011 0.121 0.615 0.372 0 3.53 0.394 4.167 0.578 1.058 0.762 1.000 0.715 0.990 0.544 8.752 0.336 . . . 0.0033 0.0006 0.0022 0.0272 0 0.0011 0.0037 0.0064 3.249e-05 0.0020 0.0009 0.0024 0.0391 0 0.0006 0.0027 0 het 1607.41 157 17 69519 . T C 1607.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.603;DP=157;Dels=0.00;FS=1.326;HRun=1;HaplotypeScore=4.0054;MQ=58.83;MQ0=0;MQRankSum=-0.864;QD=10.24;ReadPosRankSum=-0.043;VQSLOD=3.9419;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,69:157:99:1637,0,2379 17 260142 260142 G T exonic C17orf97 synonymous SNV C17orf97:NM_001013672:exon1:c.G9T:p.T3T 0.39 0.63 0.27 0.31 0.24 0.37 0.5262 0.6968 0.5391 0.5342 0.5059 0.4836 0.4921 0.5830 0.31 0.49 0.23 0.48 0.033 rs7503725 COSM3749393 1(thyroid);6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3089 0.6028 0.2997 0.3227 0.3096 0.2657 0.2659 0.2882 0.3668 0.3411 0.5739 0.3005 0.2450 0.2838 0.25 0.2410 0.2888 het 74.77 13 17 260142 . G T 74.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.437;DP=13;Dels=0.00;FS=2.276;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.533;QD=5.75;ReadPosRankSum=-0.437;VQSLOD=4.2493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,5:13:99:105,0,188 17 617869 617869 G A exonic VPS53 synonymous SNV VPS53:NM_001128159:exon1:c.C81T:p.I27I,VPS53:NM_018289:exon1:c.C81T:p.I27I 0.15 0.026 0.24 0.025 0.24 0.27 0.2085 0.0530 0.2507 0.0321 0.1631 0.2395 0.2639 0.2597 0.18 0.054 0.25 0.11 0.28 rs11558129 COSM3755746;COSM3755747 1(thyroid);1(large_intestine) Benign not_specified RCV000435996.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2107 0.0499 0.2466 0.2964 0.0294 0.1609 0.2389 0.2153 0.2575 0.1672 0.0550 0.2243 0.3146 0.0334 0.1601 0.2393 0.2175 het 1505.73 94 17 617869 . G A 1505.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.978;DP=94;Dels=0.00;FS=2.055;HRun=1;HaplotypeScore=0.9989;MQ=58.41;MQ0=0;MQRankSum=-0.180;QD=16.02;ReadPosRankSum=0.073;VQSLOD=5.2395;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,54:94:99:1536,0,964 17 648186 648186 G A exonic GEMIN4 nonsynonymous SNV GEMIN4:NM_015721:exon2:c.C3097T:p.R1033C 0.71 0.88 0.64 0.72 0.59 0.63 0.6245 0.8284 0.6988 0.7015 0.6218 0.5650 0.6879 0.6494 0.65 0.84 0.56 0.77 . rs7813 COSM3766150;COSM3766149 1(breast);1(liver) . . . . . . . . . . . 0.005 0.632 D 0.995 0.657 D 0.528 0.467 P 0.000 0.629 D 0.000 0.548 P 0.895 0.225 L 3.24 0.069 T -3.18 0.644 D 0.213 0.487 -1.158 0.008 T 0.000 0.000 T . . . 6.129 0.845 28.4 0.999 0.986 0.980 0.782 D c 0.563 0.583 1.000 0.747 0.672 0.522 0 5.71 0.890 7.333 0.783 1.048 0.713 1.000 0.715 0.997 0.653 18.856 0.922 . ENSG00000141252.15|ENSG00000196737.2|ENSG00000262228.1|ENSG00000171861.6|ENSG00000187624.7 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.6271 0.8337 0.6903 0.6291 0.7017 0.6249 0.5593 0.6471 0.6567 0.6500 0.8316 0.6993 0.6523 0.7121 0.6249 0.5423 0.6237 hom 1886.17 59 17 648186 . G A 1886.17 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8628;MQ=60.00;MQ0=0;QD=31.97;VQSLOD=9.1226;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:59:99:1919,156,0 17 648498 648498 C T exonic GEMIN4 nonsynonymous SNV GEMIN4:NM_015721:exon2:c.G2785A:p.D929N 0.89 0.97 0.82 0.89 0.84 0.88 0.8479 0.9550 0.8095 0.8881 0.8156 0.8327 0.8583 0.8652 0.87 0.95 0.83 0.91 . rs2740349 COSM4130508;COSM4130507 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.027 0.257 N 1 0.090 P -0.755 0.017 N 3.33 0.062 T 0.27 0.043 N 0.008 0.003 -0.991 0.323 T 0.000 0.000 T . . . -0.414 0.061 0.358 0.788 0.121 0.100 0.155 N c -1.178 -0.982 0.999 0.394 0.672 0.522 0 4.69 0.584 1.211 0.318 0.154 0.240 0.019 0.194 0.959 0.439 4.629 0.118 . ENSG00000167695.10|ENSG00000171861.6|ENSG00000171861.6|ENSG00000141252.15 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8454 0.9571 0.8129 0.9077 0.8846 0.8193 0.8269 0.8596 0.8681 0.8572 0.9552 0.8604 0.8974 0.8917 0.8158 0.8066 0.8333 hom 975.84 30 17 648498 . C T 975.84 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=32.53;VQSLOD=9.6513;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:81.25:1009,81,0 17 649067 649067 A G exonic GEMIN4 nonsynonymous SNV GEMIN4:NM_015721:exon2:c.T2216C:p.I739T 0.074 0.011 0.086 0.002 0.19 0.1 0.1335 0.0318 0.0638 0.0007 0.1946 0.1717 0.1927 0.1257 0.13 0.034 0.17 0.076 . rs1062923 COSM4130509;COSM4130510 1(thyroid) . . . . . . . . . . . 0.143 0.253 T 0.001 0.067 B 0.002 0.063 B 0.612 0.109 N 1 0.090 P 0.49 0.133 N 3.23 0.070 T -2.14 0.485 N 0.013 0.006 -0.986 0.335 T 0.000 0.000 T . . . -1.490 0.017 0.003 0.750 0.105 0.307 0.239 N c -1.014 -1.082 0.035 0.142 0.707 0.730 0 -2.19 0.066 1.093 0.303 1.199 0.960 0.000 0.063 0.430 0.259 12.007 0.524 . ENSG00000167695.10|ENSG00000141252.15|ENSG00000141252.15|ENSG00000141252.15|ENSG00000141252.15|ENSG00000231784.4|ENSG00000141252.15 Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Testis|Thyroid|Thyroid|Whole_Blood 0.1303 0.0274 0.0695 0.1832 0.0007 0.1911 0.1669 0.1455 0.1240 0.1238 0.0309 0.1014 0.2252 0.0012 0.1907 0.1723 0.1633 het 602.05 43 17 649067 . A G 602.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.086;DP=43;Dels=0.00;FS=1.206;HRun=0;HaplotypeScore=3.6261;MQ=59.13;MQ0=0;MQRankSum=0.648;QD=14.00;ReadPosRankSum=-1.284;VQSLOD=6.1047;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,24:43:99:632,0,499 17 649547 649547 G C exonic GEMIN4 nonsynonymous SNV GEMIN4:NM_015721:exon2:c.C1736G:p.A579G 0.71 0.89 0.64 0.72 0.59 0.63 0.6244 0.8311 0.6975 0.7013 0.6210 0.5638 0.6864 0.6536 0.65 0.83 0.56 0.77 . rs910925 COSM4969009;COSM4969008 1(central_nervous_system) . . . . . . . . . . . 0.022 0.486 D 1.0 0.899 D 0.997 0.850 D 0.000 0.843 D 0.000 0.588 P 2.535 0.741 M 2.35 0.162 T -3.42 0.672 D 0.258 0.610 -1.080 0.074 T 0.000 0.000 T . . . 5.533 0.752 26.3 0.998 0.849 0.995 0.964 D c 0.913 0.912 1.000 0.747 0.707 0.730 0 5.84 0.934 9.850 0.984 0.998 0.613 1.000 0.715 0.998 0.697 19.135 0.934 . ENSG00000196737.2|ENSG00000262228.1|ENSG00000171861.6 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6278 0.8378 0.6904 0.6299 0.7025 0.6246 0.5590 0.6475 0.6611 0.6509 0.8348 0.6993 0.6556 0.7135 0.6248 0.5423 0.6207 hom 4248.08 124 17 649547 . G C 4248.08 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4225;MQ=59.63;MQ0=0;QD=34.26;VQSLOD=6.8496;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:4248,331,0 17 649935 649935 G C exonic GEMIN4 nonsynonymous SNV GEMIN4:NM_015721:exon2:c.C1348G:p.Q450E 0.89 0.97 0.82 0.89 0.84 0.89 0.8477 0.9548 0.8083 0.8873 0.8124 0.8321 0.8594 0.8679 0.87 0.96 0.83 0.91 . rs2740348 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.060 0.223 N 1 0.203 P -2.25 0.001 N 2.76 0.115 T 1.03 0.014 N 0.017 0.028 -0.971 0.370 T 0.000 0.000 T . . . -1.934 0.009 0.001 0.669 0.080 0.161 0.190 N c -0.941 -0.673 0.973 0.294 0.707 0.730 0 6.08 0.990 2.235 0.424 0.038 0.153 0.556 0.272 0.902 0.382 10.115 0.416 . ENSG00000167695.10|ENSG00000171861.6|ENSG00000171861.6|ENSG00000171861.6|ENSG00000141252.15 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8466 0.9574 0.8132 0.9084 0.8840 0.8192 0.8279 0.8600 0.8727 0.8578 0.9555 0.8624 0.9007 0.8922 0.8162 0.8071 0.8361 hom 3796.87 118 17 649935 . G C 3796.87 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=32.18;VQSLOD=9.0786;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3797,295,0 17 650206 650206 C T exonic GEMIN4 synonymous SNV GEMIN4:NM_015721:exon2:c.G1077A:p.A359A 0.14 0.017 0.17 0.39 0.062 0.13 0.1083 0.0274 0.1968 0.3383 0.0677 0.0770 0.0895 0.1182 0.059 0.029 0.073 0.087 . rs3744742 COSM4416474;COSM4416473 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1123 0.0268 0.1844 0.0419 0.3490 0.0743 0.0780 0.1025 0.1190 0.0774 0.0293 0.1794 0.0497 0.3414 0.0724 0.0726 0.0818 het 2726.23 166 17 650206 . C T 2726.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.637;DP=166;DS;Dels=0.00;FS=13.083;HRun=1;HaplotypeScore=9.5789;MQ=59.30;MQ0=0;MQRankSum=1.074;QD=16.42;ReadPosRankSum=1.135;VQSLOD=2.3819;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,93:166:99:2756,0,1837 17 650518 650518 G A exonic GEMIN4 synonymous SNV GEMIN4:NM_015721:exon2:c.C765T:p.D255D 0.074 0.0098 0.086 0.002 0.19 0.1 0.1277 0.0289 0.0599 0.0003 0.1887 0.1655 0.1860 0.1201 0.12 0.033 0.17 0.076 . rs35696687 COSM4130512;COSM4130513 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.002 0.063 B . . . 1 0.365 P . . . 2.92 0.099 T 2.92 0.002 N . . -0.980 0.350 T 0.000 0.000 T . . . 0.038 0.097 2.961 0.829 0.139 0.090 0.147 N c -1.430 -1.516 1.000 0.747 0.672 0.522 0 -10.7 0.002 -4.127 0.003 -0.624 0.042 0.000 0.063 0.943 0.417 7.923 0.288 . ENSG00000167695.10|ENSG00000141252.15|ENSG00000141252.15|ENSG00000141252.15|ENSG00000141252.15|ENSG00000231784.4|ENSG00000141252.15 Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Testis|Thyroid|Thyroid|Whole_Blood 0.1304 0.0268 0.0694 0.1825 0.0005 0.1912 0.1672 0.1457 0.1241 0.1235 0.0296 0.1014 0.2219 0.0006 0.1905 0.1725 0.1633 het 3939.97 215 17 650518 . G A 3939.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.274;DP=215;DS;Dels=0.00;FS=4.362;HRun=0;HaplotypeScore=7.0860;MQ=59.55;MQ0=0;MQRankSum=-1.718;QD=18.33;ReadPosRankSum=0.026;VQSLOD=2.9011;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,122:215:99:3355,0,2510 17 685640 685640 G T exonic MRM3 nonsynonymous SNV MRM3:NM_018146:exon1:c.G22T:p.A8S 0.26 0.081 0.33 0.51 0.2 0.28 0.2467 0.1152 0.3635 0.4429 0.2102 0.2055 0.2345 0.3188 0.17 0.11 0.2 0.18 0.12 rs2273454 COSM3755784 2(large_intestine) . . . . . . . . . . . 0.539 0.068 T 0.0 0.026 B 0.001 0.040 B 0.450 0.048 N 1 0.090 P 0.69 0.170 N 2.25 0.178 T 0.34 0.038 N 0.029 0.010 -0.940 0.427 T 0.000 0.000 T . . . -0.474 0.057 0.255 0.611 0.065 0.008 0.033 N c -1.735 -1.804 1.0 0.983 0.442 0.072 0 -8.41 0.008 -0.156 0.100 -1.214 0.015 0.000 0.063 0.000 0.016 1.984 0.032 . ENSG00000167695.10|ENSG00000171861.6 Cells_Transformed_fibroblasts|Testis 0.2472 0.1118 0.3465 0.1456 0.4502 0.2 0.2039 0.2320 0.3170 0.1888 0.1116 0.3149 0.1523 0.4579 0.1928 0.1957 0.2163 het 303.70 25 17 685640 . G T 303.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.094;DP=25;Dels=0.00;FS=6.455;HRun=0;HaplotypeScore=0.0000;MQ=58.06;MQ0=0;MQRankSum=0.354;QD=12.15;ReadPosRankSum=-1.061;VQSLOD=4.9251;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:334,0,337 17 902802 902802 G A exonic TIMM22 synonymous SNV TIMM22:NM_013337:exon3:c.G486A:p.T162T 0.012 0.0015 0.014 . 0.038 0.0092 0.0224 0.0064 0.0126 0.0002 0.0247 0.0314 0.0242 0.0136 0.025 0.0086 0.034 0.022 . rs62640032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0225 0.0059 0.0129 0.0194 0.0001 0.0243 0.0331 0.0275 0.0140 0.0250 0.0068 0.0132 0.0364 0 0.0309 0.0366 0.0373 het 2708.39 189 17 902802 . G A 2708.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.630;DP=189;DS;Dels=0.00;FS=7.133;HRun=0;HaplotypeScore=2.9252;MQ=58.91;MQ0=0;MQRankSum=-0.678;QD=14.33;ReadPosRankSum=0.769;VQSLOD=4.5007;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:95,93:189:99:2738,0,2497 17 970413 970413 C T exonic ABR synonymous SNV ABR:NM_001282149:exon5:c.G432A:p.E144E,ABR:NM_001092:exon9:c.G975A:p.E325E,ABR:NM_001159746:exon10:c.G948A:p.E316E,ABR:NM_001322840:exon10:c.G948A:p.E316E,ABR:NM_001322841:exon10:c.G1863A:p.E621E,ABR:NM_021962:exon10:c.G1086A:p.E362E 0.9 0.77 0.9 0.97 0.94 0.95 0.9130 0.7826 0.9161 0.9626 0.9609 0.9138 0.9281 0.9440 0.87 0.79 0.9 0.86 0.89 rs2262150 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9142 0.7778 0.9047 0.9579 0.9666 0.9545 0.9071 0.9202 0.9444 0.8879 0.7938 0.9183 0.9536 0.9716 0.9544 0.9118 0.9388 hom 1914.72 61 17 970413 . C T 1914.72 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.53;MQ0=0;QD=31.39;VQSLOD=8.2755;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1948,156,0 17 1183354 1183354 T C exonic TUSC5 nonsynonymous SNV TUSC5:NM_172367:exon1:c.T59C:p.F20S 0.85 0.92 0.89 0.88 0.74 0.79 0.7904 0.9024 0.9163 0.9076 0.7637 0.7406 0.8058 0.7850 0.8 0.9 0.75 0.85 0.67 rs6502774 COSM4129567 1(pancreas);1(thyroid) . . . . . . . . . . . 0.222 0.188 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 U 1.000 0.186 P 0 0.065 N -0.44 0.698 T 1.87 0.005 N 0.084 0.078 -0.988 0.331 T 0.000 0.000 T . . . 1.394 0.231 12.76 0.979 0.364 0.001 0.009 N c -0.934 -0.840 0.045 0.147 0.554 0.246 0 5.22 0.722 3.726 0.545 0.029 0.149 0.343 0.255 0.034 0.151 10.057 0.412 . . . 0.7930 0.9023 0.9041 0.7575 0.9020 0.7595 0.7389 0.7927 0.7874 0.8026 0.9051 0.8753 0.7185 0.8869 0.7510 0.7457 0.7699 hom 5945.93 186 17 1183354 . T C 5945.93 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8937;MQ=59.33;MQ0=0;QD=31.97;VQSLOD=8.6831;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5945,466,0 17 1183464 1183464 A G exonic TUSC5 nonsynonymous SNV TUSC5:NM_172367:exon1:c.A169G:p.S57G 0.78 0.7 0.88 0.87 0.75 0.76 0.7738 0.7107 0.9090 0.9004 0.7650 0.7494 0.7778 0.7522 0.74 0.72 0.75 0.74 0.6 rs6502776 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.218 P -2.545 0.001 N 0.06 0.618 T 3.31 0.001 N 0.02 0.004 -0.950 0.411 T 0.000 0.000 T . . . -0.559 0.052 0.157 0.201 0.007 0.073 0.132 N c -1.025 -0.733 0.019 0.131 0.487 0.133 0 4.41 0.524 1.753 0.378 0.090 0.195 0.982 0.353 0.341 0.244 9.698 0.391 . . . 0.7794 0.7079 0.8942 0.7253 0.8943 0.7631 0.7518 0.7840 0.7538 0.7534 0.7197 0.8553 0.7086 0.8925 0.7526 0.7535 0.75 hom 4970.76 159 17 1183464 . A G 4970.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.955;DP=159;Dels=0.00;FS=5.248;HRun=1;HaplotypeScore=2.5640;MQ=59.27;MQ0=0;MQRankSum=-1.577;QD=31.26;ReadPosRankSum=1.332;VQSLOD=4.0748;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,158:159:99:4937,365,0 17 1359363 1359363 T G exonic CRK synonymous SNV CRK:NM_005206:exon1:c.A49C:p.R17R,CRK:NM_016823:exon1:c.A49C:p.R17R 0.73 0.92 0.71 0.51 0.7 0.72 0.7162 0.8891 0.6857 0.5492 0.7263 0.7196 0.7134 0.7103 0.78 0.88 0.72 0.14 0.64 rs2229075 COSM3755259 4(thyroid);8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7097 0.8904 0.6931 0.7428 0.5424 0.7127 0.7158 0.7231 0.7064 0.7591 0.8871 0.7181 0.6722 0.5396 0.7012 0.7276 0.7312 het 302.93 25 17 1359363 . T G 302.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.050;DP=25;Dels=0.00;FS=8.098;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.664;QD=12.12;ReadPosRankSum=-2.281;VQSLOD=3.4630;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,13:25:99:333,0,349 17 1373518 1373518 T C exonic MYO1C nonsynonymous SNV MYO1C:NM_001080779:exon24:c.A2477G:p.Q826R,MYO1C:NM_001080950:exon24:c.A2420G:p.Q807R,MYO1C:NM_033375:exon24:c.A2372G:p.Q791R 0.71 0.92 0.7 0.42 0.7 0.75 0.7252 0.8873 0.7029 0.4330 0.6948 0.7372 0.7437 0.7557 0.79 0.89 0.74 0.53 0.66 rs9905106 COSM436052;COSM4129576 1(thyroid) . . . . . . . . . . . 0.494 0.081 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.189 P -0.805 0.016 N -2.19 0.869 D 1.06 0.013 N 0.087 0.083 -0.953 0.405 T 0.000 0.000 T . . . 0.927 0.183 10.24 0.563 0.054 0.523 0.289 D c -0.708 -0.501 0.934 0.271 0.672 0.522 0 4.95 0.648 1.404 0.340 0.069 0.176 0.998 0.411 0.967 0.454 6.334 0.204 IQ motif\x2c EF-hand binding site ENSG00000167193.7|ENSG00000167193.7|ENSG00000167193.7|ENSG00000167193.7|ENSG00000167193.7|ENSG00000167193.7|ENSG00000167193.7 Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Thyroid 0.7121 0.8849 0.7039 0.7723 0.4158 0.6669 0.7299 0.7371 0.7495 0.7481 0.8801 0.7333 0.6967 0.4061 0.6573 0.7338 0.7094 het 226.51 16 17 1373518 . T C 226.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.266;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.63;MQ0=0;MQRankSum=-1.586;QD=14.16;ReadPosRankSum=0.227;VQSLOD=5.7549;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,11:16:99:257,0,149 17 1383868 1383868 C T exonic MYO1C nonsynonymous SNV MYO1C:NM_001080779:exon7:c.G859A:p.V287I,MYO1C:NM_001080950:exon7:c.G802A:p.V268I,MYO1C:NM_033375:exon7:c.G754A:p.V252I 0.0008 . 0.0014 . 0.003 . 0.0021 0.0006 0.0016 0.0002 0.0018 0.0033 0.0022 0 0.0033 0.0011 0.0044 0.011 . rs117696188 . . . . . . . . . . . . . 0.006 0.654 D 0.983 0.585 D 0.793 0.560 P 0.000 0.629 D 0.999 0.457 D 1.565 0.397 L -2.24 0.872 D -0.73 0.206 N 0.322 0.575 0.469 0.901 D 0.698 0.896 D 0.058 0.672 D 5.656 0.771 26.7 0.998 0.873 0.970 0.722 D c 0.462 0.415 0.998 0.368 0.707 0.730 0 4.49 0.540 4.745 0.616 -0.379 0.065 1.000 0.715 0.050 0.164 11.873 0.516 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0023 0.0006 0.0013 0.0001 0.0004 0.0020 0.0040 0.0013 0 0.0030 0.0005 0.0012 0 0.0006 0.0040 0.0045 0.0061 het 1818.04 195 17 1383868 . C T 1818.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.082;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.89;MQ0=0;MQRankSum=0.163;QD=9.32;ReadPosRankSum=-1.050;VQSLOD=5.5838;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,75:195:99:1848,0,2995 17 1384066 1384066 A G exonic MYO1C synonymous SNV MYO1C:NM_001080779:exon6:c.T741C:p.G247G,MYO1C:NM_001080950:exon6:c.T684C:p.G228G,MYO1C:NM_033375:exon6:c.T636C:p.G212G 0.99 1. 1. 0.97 1. 1. 0.9982 0.9999 0.9998 0.9762 1 1.0000 1 0.9998 1. 1. 1. 1. 1. rs4790518 COSM4129578;COSM4129577 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9998 0.9999 0.9999 0.9769 1 1.0000 0.9995 0.9998 0.9986 0.9999 1 1 0.9759 1 0.9999 0.9990 hom 4228.78 145 17 1384066 . A G 4228.78 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.88;MQ0=0;QD=29.16;VQSLOD=7.7309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4228,361,0 17 1489236 1489236 G A exonic SLC43A2 synonymous SNV SLC43A2:NM_001284499:exon6:c.C777T:p.S259S,SLC43A2:NM_152346:exon10:c.C1188T:p.S396S,SLC43A2:NM_001284498:exon11:c.C1200T:p.S400S,SLC43A2:NM_001321364:exon11:c.C1200T:p.S400S,SLC43A2:NM_001321365:exon11:c.C1200T:p.S400S 0.0034 0.0015 0.0014 . 0.014 . 0.0117 0.0029 0.0102 0 0.0151 0.0173 0.0187 6.107e-05 0.012 0.0027 0.017 . . rs117776467 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0112 0.0023 0.0083 0.0206 0 0.0134 0.0167 0.0146 0.0001 0.0100 0.0034 0.0095 0.0232 0 0.0115 0.0143 0.0112 het 544.19 50 17 1489236 . G A 544.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.292;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=59.54;MQ0=0;MQRankSum=1.012;QD=10.88;ReadPosRankSum=-0.292;VQSLOD=5.8675;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,23:50:99:574,0,752 17 1538546 1538546 C T exonic SCARF1 nonsynonymous SNV SCARF1:NM_003693:exon11:c.G1999A:p.G667S 0.91 0.73 0.98 0.92 1. 0.98 0.9715 0.7520 0.9874 0.9313 1 0.9984 0.9884 0.9885 0.93 0.78 1. 0.86 0.39 rs4790250 COSM3755270 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.845 0.049 T 0.084 0.233 B 0.022 0.184 B 0.049 0.232 N 1 0.200 P 1.835 0.484 L 1.61 0.284 T -0.92 0.247 N 0.026 0.022 -0.917 0.459 T 0.000 0.000 T . . . 0.793 0.170 9.422 0.852 0.152 0.153 0.186 N c -0.934 -0.920 0.438 0.204 0.461 0.090 0 2.24 0.271 0.447 0.213 0.024 0.147 0.000 0.063 0.034 0.151 8.664 0.331 . . . 0.9762 0.7523 0.9876 0.9956 0.9316 0.9998 0.9987 0.9877 0.9896 0.9274 0.7605 0.9809 0.9934 0.9309 1 0.9991 0.9827 hom 1997.65 68 17 1538546 . C T 1997.65 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.04;MQ0=0;QD=29.38;VQSLOD=9.0247;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2031,171,0 17 1538628 1538628 C G exonic SCARF1 nonsynonymous SNV SCARF1:NM_003693:exon11:c.G1917C:p.E639D 0.9 0.73 0.98 0.93 1. 0.97 0.9698 0.7578 0.9879 0.9332 1 0.9983 0.9877 0.9791 0.92 0.78 1. 0.86 0.67 rs3744644 . . . . . . . . . . . . . 0.255 0.168 T 0.925 0.494 P 0.616 0.494 P 0.001 0.414 D 1 0.200 P 1.98 0.539 M 1.13 0.386 T -1.1 0.285 N 0.1 0.103 -0.907 0.472 T 0.000 0.000 T . . . 2.427 0.353 19.00 0.982 0.387 0.204 0.208 N c -0.587 -0.662 0.373 0.199 0.672 0.522 0 3.2 0.357 -0.093 0.110 0.852 0.362 0.000 0.063 0.124 0.197 7.906 0.288 . . . 0.9752 0.7580 0.9880 0.9956 0.9341 0.9998 0.9987 0.9870 0.9801 0.9297 0.7692 0.9821 0.9934 0.9328 1 0.9991 0.9765 hom 1076.22 35 17 1538628 . C G 1076.22 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=30.75;VQSLOD=8.2974;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:99:1109,99,0 17 1542153 1542153 G A exonic SCARF1 synonymous SNV SCARF1:NM_003693:exon8:c.C1311T:p.G437G,SCARF1:NM_145350:exon8:c.C1311T:p.G437G 0.65 0.42 0.69 0.88 0.63 0.69 0.6470 0.4446 0.7580 0.8789 0.6460 0.6201 0.6409 0.6803 0.57 0.46 0.62 0.45 0.5 rs2272012 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6528 0.4386 0.7480 0.6272 0.8803 0.6357 0.6179 0.6347 0.6776 0.5915 0.4434 0.7440 0.5960 0.8778 0.6273 0.6262 0.6429 het 565.63 56 17 1542153 . G A 565.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.689;DP=56;Dels=0.00;FS=6.344;HRun=0;HaplotypeScore=3.4161;MQ=60.00;MQ0=0;MQRankSum=0.789;QD=10.10;ReadPosRankSum=0.586;VQSLOD=4.2819;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,24:56:99:596,0,813 17 1542190 1542190 G A exonic SCARF1 nonsynonymous SNV SCARF1:NM_003693:exon8:c.C1274T:p.A425V,SCARF1:NM_145350:exon8:c.C1274T:p.A425V 0.67 0.52 0.69 0.88 0.61 0.69 0.6402 0.5217 0.7539 0.8793 0.6367 0.5989 0.6340 0.6753 0.58 0.54 0.6 0.52 0.49 rs2272011 COSM436062 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.401 0.104 T 0.007 0.241 B 0.003 0.176 B 0.177 0.172 N 1 0.090 P 1.69 0.435 L 1.07 0.396 T -2.38 0.524 N 0.01 0.147 -1.034 0.191 T 0.000 0.000 T . . . -0.068 0.087 1.978 0.887 0.176 0.083 0.141 N c -1.791 -1.845 0.714 0.228 0.672 0.522 0 -3.51 0.044 -0.142 0.102 -2.702 0.002 0.000 0.063 0.001 0.043 8.882 0.344 . ENSG00000074660.11 Thyroid 0.6460 0.5190 0.7442 0.6222 0.8805 0.6285 0.5969 0.6283 0.6718 0.6042 0.5239 0.7387 0.5927 0.8775 0.6192 0.6085 0.6337 het 733.21 55 17 1542190 . G A 733.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.109;DP=55;Dels=0.00;FS=21.585;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.463;QD=13.33;ReadPosRankSum=0.547;VQSLOD=2.9154;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,27:55:99:763,0,759 17 1578939 1578939 C T exonic PRPF8 synonymous SNV PRPF8:NM_006445:exon19:c.G2847A:p.P949P 0.26 0.59 0.14 0.089 0.19 0.15 0.2129 0.5307 0.1069 0.0678 0.1876 0.2147 0.2362 0.1649 0.31 0.51 0.21 0.35 0.21 rs33965342 COSM5009688 10(soft_tissue);1(large_intestine) Likely benign Retinitis_Pigmentosa\x2c_Dominant RCV000396761.1 MedGen CN239354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2032 0.5291 0.1093 0.2923 0.0694 0.1895 0.2124 0.2067 0.1660 0.2909 0.5242 0.1396 0.3709 0.0682 0.1918 0.2146 0.2067 het 2581.47 244 17 1578939 . C T 2581.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.002;DP=244;DS;Dels=0.00;FS=0.474;HRun=0;HaplotypeScore=3.8393;MQ=59.65;MQ0=0;MQRankSum=-0.472;QD=10.58;ReadPosRankSum=0.441;VQSLOD=5.6699;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,104:244:99:2611,0,3777 17 1580929 1580929 G C exonic PRPF8 synonymous SNV PRPF8:NM_006445:exon14:c.C1914G:p.L638L 0.27 0.63 0.15 0.09 0.19 0.14 0.2170 0.5779 0.1093 0.0683 0.1878 0.2153 0.2406 0.1605 0.33 0.56 0.21 0.37 0.24 rs11078565 COSM5009689 1(haematopoietic_and_lymphoid_tissue);10(soft_tissue);1(large_intestine) Likely benign Retinitis_Pigmentosa\x2c_Dominant RCV000370585.1 MedGen CN239354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2059 0.5765 0.1116 0.2924 0.0692 0.1896 0.2125 0.2102 0.1606 0.3036 0.5696 0.1435 0.3667 0.0682 0.1933 0.2143 0.2111 het 2217.02 139 17 1580929 . G C 2217.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.333;DP=139;Dels=0.00;FS=3.234;HRun=0;HaplotypeScore=1.9867;MQ=58.77;MQ0=1;MQRankSum=0.896;QD=15.95;ReadPosRankSum=1.976;VQSLOD=5.0615;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,84:139:99:2247,0,1289 17 1584324 1584324 A G exonic PRPF8 synonymous SNV PRPF8:NM_006445:exon7:c.T891C:p.N297N 0.27 0.63 0.15 0.09 0.19 0.14 0.2174 0.5789 0.1099 0.0675 0.1880 0.2158 0.2379 0.1605 0.33 0.56 0.21 0.37 0.27 rs7503397 COSM5009690 1(haematopoietic_and_lymphoid_tissue);10(soft_tissue);1(large_intestine) Likely benign Retinitis_Pigmentosa\x2c_Dominant RCV000378630.1 MedGen CN239354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2065 0.5774 0.1123 0.2925 0.0685 0.1897 0.2135 0.2109 0.1609 0.3040 0.5699 0.1423 0.37 0.0669 0.1930 0.2148 0.2118 het 2329.18 176 17 1584324 . A G 2329.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DP=176;DS;Dels=0.00;FS=2.210;HRun=0;HaplotypeScore=2.4968;MQ=59.28;MQ0=0;MQRankSum=-2.416;QD=13.23;ReadPosRankSum=0.357;VQSLOD=5.0036;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,88:176:99:2359,0,2428 17 1585130 1585130 A G exonic PRPF8 synonymous SNV PRPF8:NM_006445:exon5:c.T637C:p.L213L 0.25 0.6 0.13 0.089 0.15 0.13 0.1871 0.5369 0.0915 0.0670 0.1703 0.1754 0.2130 0.1489 0.29 0.51 0.17 0.33 0.2 rs11559305 COSM5009691 1(large_intestine) Likely benign Retinitis_Pigmentosa\x2c_Dominant RCV000343823.1 MedGen CN239354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1770 0.5357 0.0940 0.2218 0.0681 0.1718 0.1746 0.1725 0.1489 0.2717 0.5288 0.1163 0.2733 0.0671 0.1753 0.1810 0.1933 het 2285.51 198 17 1585130 . A G 2285.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.545;DP=198;Dels=0.00;FS=1.856;HRun=0;HaplotypeScore=7.4261;MQ=59.28;MQ0=0;MQRankSum=0.758;QD=11.54;ReadPosRankSum=0.056;VQSLOD=4.5662;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:109,87:198:99:2316,0,2921 17 1634104 1634104 C T exonic WDR81 synonymous SNV WDR81:NM_001163673:exon3:c.C222T:p.A74A,WDR81:NM_001163809:exon3:c.C3831T:p.A1277A,WDR81:NM_001163811:exon3:c.C150T:p.A50A,WDR81:NM_152348:exon4:c.C678T:p.A226A 0.11 0.064 0.15 0.14 0.088 0.15 0.1168 0.0679 0.2295 0.1304 0.0760 0.0952 0.0958 0.1625 0.083 0.07 0.09 0.098 0.11 rs12150338 . . Likely benign not_specified RCV000118854.2 MedGen CN169374 Calcium levels . .05 20705733 rs12150338 7E-7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1188 0.0654 0.2190 0.1220 0.1323 0.0704 0.0911 0.1209 0.1595 0.0830 0.0710 0.2022 0.1093 0.1300 0.0670 0.0816 0.0804 het 1079.98 69 17 1634104 . C T 1079.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.574;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=-0.320;QD=15.65;ReadPosRankSum=-0.766;VQSLOD=6.5742;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,38:69:99:1110,0,859 17 1637302 1637302 A G exonic WDR81 synonymous SNV WDR81:NM_001163673:exon7:c.A1362G:p.L454L,WDR81:NM_001163809:exon7:c.A4971G:p.L1657L,WDR81:NM_001163811:exon7:c.A1290G:p.L430L,WDR81:NM_152348:exon8:c.A1818G:p.L606L 0.76 0.71 0.71 0.92 0.71 0.76 0.7526 0.7222 0.7350 0.9264 0.7433 0.7324 0.7404 0.7777 0.72 0.72 0.72 0.79 0.71 rs3809872 COSM3755293;COSM3755291;COSM3755292 1(thyroid);3(large_intestine) Likely benign not_specified RCV000118857.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7486 0.7151 0.7305 0.6600 0.9255 0.7393 0.7341 0.7281 0.7772 0.7435 0.7219 0.7303 0.6556 0.9308 0.7479 0.7385 0.7245 het 2258.31 159 17 1637302 . A G 2258.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.709;DP=159;Dels=0.00;FS=4.726;HRun=0;HaplotypeScore=4.7326;MQ=58.42;MQ0=0;MQRankSum=-0.670;QD=14.20;ReadPosRankSum=-0.552;VQSLOD=4.7601;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,82:159:99:2288,0,2094 17 1637458 1637458 G A exonic WDR81 synonymous SNV WDR81:NM_001163673:exon7:c.G1518A:p.P506P,WDR81:NM_001163809:exon7:c.G5127A:p.P1709P,WDR81:NM_001163811:exon7:c.G1446A:p.P482P,WDR81:NM_152348:exon8:c.G1974A:p.P658P 0.25 0.25 0.21 0.19 0.2 0.38 0.2490 0.2415 0.2941 0.1723 0.2241 0.2174 0.2441 0.3974 0.22 0.24 0.21 0.3 0.17 rs8065251 COSM1479286;COSM436114;COSM436113 1(liver);4(large_intestine) Likely benign not_specified RCV000118858.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2444 0.2358 0.2810 0.1890 0.1732 0.2172 0.2142 0.2426 0.3851 0.2229 0.2382 0.2876 0.1887 0.1726 0.2103 0.2190 0.2306 het 894.25 65 17 1637458 . G A 894.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.014;DP=65;Dels=0.00;FS=8.782;HRun=0;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;MQRankSum=0.854;QD=13.76;ReadPosRankSum=-1.133;VQSLOD=4.5676;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,37:65:99:924,0,736 17 1639458 1639458 A G exonic WDR81 synonymous SNV WDR81:NM_001163673:exon9:c.A1842G:p.T614T,WDR81:NM_001163809:exon9:c.A5451G:p.T1817T,WDR81:NM_001163811:exon9:c.A1770G:p.T590T,WDR81:NM_152348:exon10:c.A2298G:p.T766T 0.72 0.62 0.68 0.84 0.72 0.75 0.7342 0.6284 0.6912 0.8613 0.7437 0.7321 0.7275 0.7686 0.69 0.63 0.72 0.72 0.67 rs11549259 COSM436115;COSM1479287;COSM436116 1(large_intestine) Likely benign not_specified RCV000118860.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7305 0.6195 0.6888 0.6572 0.8563 0.7373 0.7347 0.7134 0.7685 0.7130 0.6299 0.7017 0.6523 0.8636 0.7490 0.7381 0.7191 het 979.60 92 17 1639458 . A G 979.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.745;DP=92;Dels=0.00;FS=9.226;HRun=2;HaplotypeScore=4.2560;MQ=58.31;MQ0=0;MQRankSum=0.650;QD=10.65;ReadPosRankSum=0.130;VQSLOD=4.5576;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,40:92:99:1010,0,1383 17 1640793 1640793 C T exonic WDR81 synonymous SNV WDR81:NM_001163673:exon10:c.C2031T:p.S677S,WDR81:NM_001163809:exon10:c.C5640T:p.S1880S,WDR81:NM_001163811:exon10:c.C1959T:p.S653S,WDR81:NM_152348:exon11:c.C2487T:p.S829S 0.24 0.23 0.21 0.19 0.2 0.38 0.2419 0.2166 0.2907 0.1713 0.2155 0.2131 0.2315 0.3860 0.21 0.22 0.21 0.28 0.21 rs8077638 COSM436117;COSM1381116;COSM436118 2(liver);2(thyroid);1(large_intestine) Likely benign not_specified RCV000118862.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2413 0.2170 0.2797 0.1881 0.1738 0.2156 0.2138 0.2413 0.3843 0.2183 0.2212 0.2888 0.1887 0.1731 0.2099 0.2193 0.2316 het 1363.37 124 17 1640793 . C T 1363.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.251;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8754;MQ=59.81;MQ0=0;MQRankSum=-0.617;QD=10.99;ReadPosRankSum=0.495;VQSLOD=6.1562;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,56:124:99:1393,0,1841 17 1657653 1657653 G A exonic SERPINF2 nonsynonymous SNV SERPINF2:NM_001165921:exon9:c.G1109A:p.R370K,SERPINF2:NM_000934:exon10:c.G1301A:p.R434K,SERPINF2:NM_001165920:exon10:c.G1301A:p.R434K 0.22 0.21 0.2 0.16 0.17 0.38 0.2165 0.2069 0.2704 0.1406 0.1873 0.1815 0.2035 0.3781 0.19 0.21 0.18 0.24 0.22 rs1057335 COSM3736156 1(liver);1(skin);1(thyroid);1(large_intestine) Benign not_specified RCV000242862.1 MedGen CN169374 . . . . . . 0.481 0.082 T 0.001 0.067 B 0.002 0.063 B 0.049 0.232 N 0.980 0.251 P 0.925 0.236 L -1.83 0.841 D -0.36 0.131 N 0.022 0.015 -1.106 0.034 T 0.000 0.002 T . . . 0.555 0.147 7.836 0.812 0.131 0.579 0.302 D c -0.822 -0.675 0.980 0.301 0.554 0.283 0 0.742 0.174 -0.051 0.117 -1.001 0.022 0.757 0.290 0.875 0.366 7.708 0.277 Serpin domain ENSG00000167711.9|ENSG00000262791.1|ENSG00000167711.9|ENSG00000167716.14|ENSG00000167711.9|ENSG00000167711.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.2175 0.2083 0.2656 0.1708 0.1438 0.1841 0.1832 0.2097 0.3757 0.1952 0.2157 0.2625 0.1887 0.1409 0.1734 0.1892 0.2147 het 2966.56 209 17 1657653 . G A 2966.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.100;DP=209;Dels=0.00;FS=0.515;HRun=1;HaplotypeScore=3.7884;MQ=59.36;MQ0=0;MQRankSum=0.013;QD=14.19;ReadPosRankSum=-1.206;VQSLOD=5.7248;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,106:209:99:2997,0,2911 17 1673276 1673276 C T exonic SERPINF1 nonsynonymous SNV SERPINF1:NM_001329903:exon3:c.C215T:p.T72M,SERPINF1:NM_002615:exon3:c.C215T:p.T72M 0.63 0.88 0.59 0.49 0.65 0.43 0.6188 0.8321 0.5055 0.5376 0.5555 0.6546 0.6512 0.4852 0.71 0.83 0.65 0.61 0.72 rs1136287 COSM1381146 1(skin) Benign Osteogenesis_Imperfecta\x2c_Recessive RCV000278760.1 MedGen CN239451 . . . . . . 0.271 0.160 T 0.005 0.119 B 0.006 0.112 B 0.000 0.006 N 1 0.090 P 0.975 0.246 L -1.87 0.844 D -0.5 0.158 N 0.164 0.342 -0.955 0.400 T 0.000 0.000 T . . . 0.396 0.132 6.575 0.924 0.212 0.012 0.043 N c -1.592 -1.722 1.0 0.983 0.714 0.819 0 -11.3 0.001 -0.725 0.050 -0.214 0.099 0.000 0.063 0.003 0.074 5.207 0.145 Serpin domain ENSG00000186532.7|ENSG00000132386.6|ENSG00000186532.7|ENSG00000186532.7|ENSG00000186532.7|ENSG00000132386.6|ENSG00000186532.7|ENSG00000132386.6|ENSG00000186532.7|ENSG00000186532.7|ENSG00000186532.7|ENSG00000132386.6|ENSG00000186532.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6080 0.8380 0.5142 0.7242 0.5421 0.5489 0.6479 0.6346 0.4893 0.6744 0.8357 0.5407 0.7351 0.5702 0.5751 0.6260 0.5988 hom 4098.37 130 17 1673276 . C T 4098.37 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.71;MQ0=0;QD=31.53;VQSLOD=9.4949;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4098,322,0 17 1680002 1680002 T C exonic SERPINF1 synonymous SNV SERPINF1:NM_001329905:exon3:c.T402C:p.Y134Y,SERPINF1:NM_001329904:exon6:c.T402C:p.Y134Y,SERPINF1:NM_001329903:exon7:c.T963C:p.Y321Y,SERPINF1:NM_002615:exon7:c.T963C:p.Y321Y 0.78 0.92 0.76 0.78 0.74 0.64 0.7292 0.9001 0.8069 0.7931 0.7400 0.7044 0.6817 0.6323 0.77 0.89 0.71 0.83 0.69 rs6828 COSM3766007 2(liver);1(thyroid) Benign Osteogenesis_Imperfecta\x2c_Recessive RCV000333112.1 MedGen CN239451 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7308 0.8998 0.7943 0.7053 0.7928 0.7351 0.7082 0.7092 0.6339 0.7697 0.8983 0.7560 0.7351 0.7751 0.7444 0.7025 0.7577 het 2470.38 176 17 1680002 . T C 2470.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.725;DP=176;Dels=0.00;FS=1.245;HRun=0;HaplotypeScore=0.8667;MQ=59.30;MQ0=0;MQRankSum=-1.184;QD=14.04;ReadPosRankSum=0.368;VQSLOD=6.3253;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,98:176:99:2500,0,2018 17 1686410 1686410 T C exonic SMYD4 nonsynonymous SNV SMYD4:NM_052928:exon10:c.A2180G:p.Y727C 0.78 0.92 0.76 0.78 0.74 0.64 0.7293 0.8995 0.8060 0.7928 0.7399 0.7046 0.6817 0.6327 0.77 0.89 0.71 0.81 0.68 rs9902398 COSM3766010 1(liver) . . . . . . . . . . . 0.207 0.198 T 0.037 0.195 B 0.004 0.093 B 0.070 0.022 N 1 0.090 P 0 0.065 N -0.01 0.628 T -0.4 0.138 N 0.044 0.094 -0.910 0.468 T 0.000 0.000 T . . . -1.616 0.014 0.002 0.280 0.014 0.020 0.059 N c -1.972 -2.079 1.000 0.747 0.707 0.730 0 -11.7 0.000 -3.420 0.005 -1.564 0.009 0.000 0.063 0.306 0.238 12.581 0.556 . ENSG00000186532.7|ENSG00000186532.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts 0.7308 0.8994 0.7939 0.7053 0.7927 0.7350 0.7083 0.7090 0.6345 0.7697 0.8979 0.7536 0.7351 0.7724 0.7443 0.7030 0.7572 het 1601.84 110 17 1686410 . T C 1601.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.540;DP=110;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=3.8129;MQ=59.79;MQ0=0;MQRankSum=0.119;QD=14.56;ReadPosRankSum=0.763;VQSLOD=5.3014;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,59:110:99:1632,0,1174 17 1703543 1703543 G C exonic SMYD4 nonsynonymous SNV SMYD4:NM_052928:exon5:c.C1145G:p.P382R 0.28 0.39 0.23 0.19 0.28 0.25 0.2779 0.3846 0.1717 0.1670 0.2522 0.3007 0.3029 0.2602 0.33 0.39 0.3 0.28 0.31 rs3809875 COSM4000036 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.015 0.524 D 0.986 0.596 D 0.936 0.654 D 0.016 0.280 N 1 0.090 P 2.89 0.840 M 2.92 0.145 T -2.44 0.534 N 0.129 0.483 -0.857 0.515 T 0.000 0.000 T . . . 3.671 0.498 23.3 0.996 0.731 0.903 0.511 D c 0.438 0.385 0.224 0.184 0.707 0.730 0 4.83 0.617 2.891 0.481 1.048 0.713 0.460 0.264 0.834 0.348 16.852 0.858 SET domain ENSG00000132383.7|ENSG00000132383.7|ENSG00000132383.7|ENSG00000186532.7 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.2709 0.3917 0.1858 0.3113 0.1582 0.2535 0.2992 0.2896 0.2604 0.3080 0.3919 0.2231 0.2781 0.1434 0.2456 0.3010 0.2464 het 2626.21 219 17 1703543 . G C 2626.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.975;DP=219;DS;Dels=0.00;FS=3.942;HRun=0;HaplotypeScore=5.3852;MQ=59.36;MQ0=0;MQRankSum=0.886;QD=11.99;ReadPosRankSum=-0.585;VQSLOD=5.0869;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:110,109:219:99:2656,0,3040 17 1704296 1704296 C A exonic SMYD4 nonsynonymous SNV SMYD4:NM_052928:exon5:c.G392T:p.R131I 0.29 0.21 0.26 0.27 0.49 0.23 0.3875 0.2332 0.1949 0.3083 0.4252 0.4771 0.4056 0.2788 0.4 0.23 0.49 0.25 0.28 rs7224496 COSM3755299 1(haematopoietic_and_lymphoid_tissue);2(liver);1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.993 0.637 D 0.961 0.688 D 0.041 0.240 N 0.000 0.508 P 2.945 0.851 M 2.19 0.187 T -3.02 0.626 D 0.238 0.513 -0.913 0.465 T 0.000 0.000 T . . . 4.527 0.606 24.3 0.977 0.352 0.976 0.757 D c 0.265 0.167 0.263 0.188 0.719 0.830 0 3.97 0.451 3.124 0.499 -0.436 0.058 1.000 0.715 0.014 0.122 9.787 0.397 Tetratricopeptide-like helical domain . . 0.3820 0.2258 0.2079 0.3720 0.3094 0.4163 0.4896 0.3943 0.2766 0.3879 0.2247 0.2356 0.4238 0.3151 0.4476 0.4815 0.4353 het 2767.69 199 17 1704296 . C A 2767.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.651;DP=199;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=58.97;MQ0=0;MQRankSum=-0.301;QD=13.91;ReadPosRankSum=-0.276;VQSLOD=6.4489;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:99,100:199:99:2798,0,2847 17 1731268 1731268 T C exonic SMYD4 synonymous SNV SMYD4:NM_052928:exon2:c.A21G:p.E7E 0.59 0.68 0.5 0.46 0.76 0.49 0.6716 0.7059 0.3717 0.4771 0.6771 0.7764 0.7119 0.5339 0.76 0.72 0.79 0.6 0.8 rs8067660 COSM3755301 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6591 0.7098 0.3980 0.6827 0.4688 0.6687 0.7879 0.6883 0.5378 0.7232 0.7118 0.4614 0.7114 0.4621 0.6924 0.7825 0.6813 hom 2373.08 77 17 1731268 . T C 2373.08 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.42;MQ0=0;QD=30.82;VQSLOD=8.5550;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2406,184,0 17 1840468 1840468 C T exonic RTN4RL1 synonymous SNV RTN4RL1:NM_178568:exon2:c.G648A:p.A216A 0.68 0.73 0.66 0.66 0.75 0.57 0.6967 0.7546 0.5884 0.6317 0.7032 0.7421 0.6765 0.5873 0.75 0.76 0.74 0.71 . rs9903800 COSM4129658 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6888 0.7480 0.5906 0.7564 0.6266 0.7080 0.7388 0.7003 0.5837 0.7226 0.7414 0.6328 0.7881 0.6021 0.7043 0.7338 0.7058 hom 879.59 29 17 1840468 . C T 879.59 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.33;VQSLOD=13.6501;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:75.22:913,75,0 17 1940232 1940232 A G exonic DPH1 nonsynonymous SNV DPH1:NM_001346576:exon5:c.A257G:p.K86R,DPH1:NM_001346574:exon6:c.A677G:p.K226R,DPH1:NM_001346575:exon6:c.A644G:p.K215R,DPH1:NM_001383:exon6:c.A677G:p.K226R 0.1 0.0098 0.3 0.057 0.15 0.079 0.1543 0.0292 0.3753 0.0822 0.1528 0.1574 0.1395 0.1006 0.12 0.034 0.16 0.087 0.25 rs1131600 . . . . . . . . . . . . . 0.228 0.184 T 0.0 0.026 B 0.003 0.104 B 0.063 0.221 N 0.909 0.275 P 0.145 0.088 N 0.95 0.433 T -0.75 0.210 N 0.033 0.169 -1.012 0.263 T 0.000 0.000 T . . . 0.753 0.166 9.169 0.969 0.309 0.823 0.413 D c -0.583 -0.401 0.997 0.354 0.706 0.609 0 4.63 0.570 1.955 0.398 0.197 0.251 0.921 0.317 0.798 0.336 8.338 0.312 . ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8 Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Heart_Atrial_Appendage|Muscle_Skeletal|Thyroid 0.1643 0.0288 0.3640 0.0946 0.0818 0.1456 0.1630 0.1549 0.1028 0.1300 0.0348 0.3174 0.1192 0.0785 0.1528 0.1737 0.1584 het 887.17 75 17 1940232 . A G 887.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.992;DP=75;Dels=0.00;FS=3.134;HRun=0;HaplotypeScore=0.0000;MQ=58.06;MQ0=0;MQRankSum=1.546;QD=11.83;ReadPosRankSum=1.189;VQSLOD=4.6294;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,31:75:99:917,0,1148 17 1943880 1943880 C G exonic DPH1 nonsynonymous SNV DPH1:NM_001346576:exon8:c.C583G:p.L195V,DPH1:NM_001346574:exon9:c.C940G:p.L314V,DPH1:NM_001346575:exon9:c.C907G:p.L303V,DPH1:NM_001383:exon9:c.C1003G:p.L335V 0.045 0.0061 0.095 0.001 0.076 0.076 0.0803 0.0145 0.1134 0.0002 0.1166 0.0893 0.0869 0.0867 0.066 0.02 0.088 0.054 0.025 rs35394823 . . . . . . . . . . . . . 0.016 0.518 D 0.77 0.419 P 0.345 0.487 B 0.000 0.843 D 0.000 0.588 P 2.62 0.769 M 0.94 0.437 T -2.27 0.506 N 0.246 0.382 -0.894 0.486 T 0.011 0.044 T . . . 5.247 0.709 25.6 0.998 0.873 0.944 0.607 D c 0.356 0.338 1.000 0.747 0.707 0.730 0 5.37 0.769 2.905 0.482 0.935 0.490 0.995 0.385 0.993 0.574 13.48 0.606 . ENSG00000108963.13|ENSG00000262533.1 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.0812 0.0130 0.1060 0.0536 0.0002 0.1177 0.0898 0.0786 0.0852 0.0696 0.0168 0.0967 0.0464 0.0006 0.1080 0.0961 0.0967 het 2004.26 179 17 1943880 . C G 2004.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.270;DP=179;Dels=0.00;FS=1.983;HRun=0;HaplotypeScore=2.6823;MQ=58.93;MQ0=0;MQRankSum=0.548;QD=11.20;ReadPosRankSum=-0.484;VQSLOD=5.8004;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,75:179:99:2034,0,2840 17 1943888 1943888 T C exonic DPH1 synonymous SNV DPH1:NM_001346576:exon8:c.T591C:p.P197P,DPH1:NM_001346574:exon9:c.T948C:p.P316P,DPH1:NM_001346575:exon9:c.T915C:p.P305P,DPH1:NM_001383:exon9:c.T1011C:p.P337P 0.82 0.83 0.88 0.93 0.76 0.7 0.7876 0.8161 0.8955 0.9342 0.7803 0.7665 0.7856 0.7067 0.79 0.81 0.78 0.83 0.78 rs2236375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7926 0.8155 0.8875 0.7974 0.9389 0.7789 0.7641 0.7836 0.7090 0.7959 0.8133 0.8723 0.7881 0.9406 0.7825 0.7699 0.7829 hom 5111.87 170 17 1943888 . T C 5111.87 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=59.10;MQ0=0;QD=30.07;VQSLOD=9.0743;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:5111,421,0 17 2091765 2091765 C T exonic SMG6 nonsynonymous SNV SMG6:NM_001256828:exon3:c.G190A:p.A64T,SMG6:NM_001256827:exon4:c.G190A:p.A64T,SMG6:NM_017575:exon11:c.G2914A:p.A972T 0.4 0.55 0.3 0.33 0.31 0.46 0.3491 0.5064 0.3139 0.3279 0.3245 0.3176 0.3471 0.4226 0.37 0.49 0.31 0.42 0.25 rs903160 COSM5420060 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.313 0.139 T 0.0 0.026 B 0.001 0.040 B 0.000 0.460 D 0.722 0.299 P -1.085 0.010 N 1.63 0.280 T -0.37 0.132 N 0.096 0.377 -0.922 0.453 T 0.000 0.000 T . . . 3.349 0.461 22.9 0.989 0.481 0.433 0.268 N c -0.495 -0.287 0.998 0.369 0.744 0.983 0 2.5 0.292 1.271 0.325 0.065 0.171 0.940 0.324 0.993 0.574 4.303 0.103 DNA/RNA-binding domain\x2c Est1-type|Tetratricopeptide-like helical domain ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000141258.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000236838.2 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Stomach|Testis 0.3398 0.5086 0.3084 0.2148 0.3233 0.3328 0.3191 0.3403 0.4196 0.3657 0.4997 0.3225 0.1667 0.3292 0.3214 0.3100 0.3442 het 1818.55 139 17 2091765 . C T 1818.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.236;DP=139;Dels=0.00;FS=1.400;HRun=0;HaplotypeScore=5.3202;MQ=58.87;MQ0=1;MQRankSum=0.886;QD=13.08;ReadPosRankSum=1.443;VQSLOD=5.2728;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,70:139:99:1849,0,1688 17 2186100 2186100 C T exonic SMG6 synonymous SNV SMG6:NM_017575:exon8:c.G2502A:p.Q834Q 0.43 0.69 0.36 0.24 0.36 0.38 0.3713 0.6288 0.3381 0.2638 0.3301 0.3545 0.3623 0.3732 0.44 0.61 0.35 0.48 0.3 rs749240 COSM3755341 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3635 0.6356 0.3350 0.3082 0.2644 0.3361 0.3576 0.3569 0.3744 0.4188 0.6208 0.3612 0.3267 0.2711 0.3257 0.3479 0.3582 het 1580.49 123 17 2186100 . C T 1580.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.286;DP=123;Dels=0.00;FS=3.279;HRun=1;HaplotypeScore=0.8667;MQ=59.17;MQ0=0;MQRankSum=0.220;QD=12.85;ReadPosRankSum=-0.240;VQSLOD=6.6879;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,59:123:99:1610,0,1921 17 2203025 2203025 T G exonic SMG6 nonsynonymous SNV SMG6:NM_017575:exon2:c.A1022C:p.N341T 0.23 0.047 0.44 0.17 0.38 0.23 0.3254 0.0855 0.4499 0.1648 0.4046 0.3774 0.3458 0.2306 0.29 0.094 0.39 0.16 0.46 rs1885987 COSM4129724 1(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid) . . . . . . . . . . . 0.132 0.265 T 0.001 0.067 B 0.004 0.093 B 0.743 0.098 N 0.999 0.217 P 0 0.065 N 3.15 0.078 T -0.87 0.236 N 0.078 0.095 -0.939 0.428 T 0.000 0.000 T . . . 0.063 0.100 3.212 0.938 0.232 0.966 0.698 D c -0.608 -0.410 0.639 0.220 0.732 0.924 0 2.3 0.276 3.369 0.518 0.068 0.175 1.000 0.715 0.992 0.562 10.136 0.417 . ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000070366.9|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Whole_Blood 0.3368 0.0811 0.4464 0.4387 0.1614 0.3970 0.3723 0.3656 0.2325 0.2880 0.0907 0.4200 0.4027 0.1640 0.4091 0.3752 0.3378 het 2730.73 205 17 2203025 . T G 2730.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.989;DP=205;Dels=0.00;FS=4.147;HRun=1;HaplotypeScore=3.6545;MQ=59.55;MQ0=0;MQRankSum=0.359;QD=13.32;ReadPosRankSum=0.717;VQSLOD=5.7709;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:108,97:205:99:2761,0,2731 17 2203175 2203175 C G exonic SMG6 nonsynonymous SNV SMG6:NM_017575:exon2:c.G872C:p.R291P 0.18 0.032 0.42 0.089 0.36 0.14 0.2929 0.0628 0.4377 0.1088 0.3798 0.3500 0.3073 0.1664 0.26 0.073 0.36 0.14 0.44 rs1885986 COSM3755343 1(breast);2(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.007 0.599 D 0.998 0.715 D 0.921 0.639 D 0.004 0.341 N 0.999 0.219 P 2.255 0.644 M 2.89 0.102 T -1.14 0.293 N 0.664 0.769 -0.817 0.542 T 0.000 0.000 T . . . 5.611 0.764 26.5 0.997 0.804 0.948 0.622 D c 0.549 0.575 0.999 0.383 0.732 0.924 0 5.35 0.762 1.891 0.391 0.935 0.490 0.681 0.282 1.000 0.888 19.057 0.930 . ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8|ENSG00000070366.9|ENSG00000167720.8|ENSG00000167720.8|ENSG00000167720.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Whole_Blood 0.3056 0.0594 0.4348 0.4161 0.1087 0.3698 0.3447 0.3311 0.1693 0.2571 0.0669 0.4057 0.38 0.1140 0.3838 0.3400 0.3020 het 2588.36 164 17 2203175 . C G 2588.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.698;DP=164;Dels=0.00;FS=7.088;HRun=1;HaplotypeScore=5.8391;MQ=59.35;MQ0=0;MQRankSum=0.859;QD=15.78;ReadPosRankSum=-1.371;VQSLOD=3.9960;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,86:164:99:2618,0,1906 17 2203348 2203348 T C exonic SMG6 synonymous SNV SMG6:NM_017575:exon2:c.A699G:p.P233P 0.94 1. 0.9 1. 0.82 0.97 0.8904 0.9753 0.9117 1 0.9026 0.8409 0.8932 0.9591 0.89 0.97 0.84 0.92 0.81 rs216194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8900 0.9764 0.9123 0.8271 0.9999 0.9060 0.8391 0.8693 0.9577 0.9009 0.9724 0.9021 0.7914 0.9994 0.9046 0.8512 0.8814 hom 3344.11 94 17 2203348 . T C 3344.11 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=35.58;VQSLOD=9.2066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3344,277,0 17 2203453 2203453 A G exonic SMG6 synonymous SNV SMG6:NM_017575:exon2:c.T594C:p.A198A 0.54 0.35 0.63 0.68 0.61 0.54 0.6012 0.3968 0.6525 0.6809 0.6455 0.6183 0.6035 0.5650 0.55 0.41 0.62 0.5 0.67 rs216193 COSM3755344 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6092 0.3927 0.6559 0.6682 0.6832 0.6368 0.6149 0.6123 0.5642 0.5643 0.4031 0.6283 0.6490 0.6776 0.6505 0.6176 0.6096 het 2918.19 250 17 2203453 . A G 2918.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.446;DP=250;DS;Dels=0.00;FS=11.855;HRun=1;HaplotypeScore=0.6651;MQ=59.04;MQ0=0;MQRankSum=0.810;QD=11.67;ReadPosRankSum=0.062;VQSLOD=4.7322;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:2948,0,3788 17 2595964 2595964 G A exonic CLUH synonymous SNV CLUH:NM_015229:exon21:c.C3222T:p.A1074A 0.46 0.52 0.37 0.5 0.42 0.42 0.4190 0.5297 0.3563 0.5521 0.5043 0.3939 0.4539 0.3953 0.42 0.51 0.37 0.51 . rs2302199 COSM436208;COSM436207 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4099 0.5263 0.3490 0.3649 0.5524 0.4928 0.3846 0.3960 0.3884 0.4347 0.5174 0.3508 0.3709 0.5553 0.5020 0.3647 0.4224 het 418.47 25 17 2595964 . G A 418.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.205;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=60.00;MQ0=0;MQRankSum=0.732;QD=16.74;ReadPosRankSum=-0.146;VQSLOD=5.8555;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,14:25:99:448,0,302 17 2606715 2606715 G A exonic CLUH synonymous SNV CLUH:NM_015229:exon3:c.C258T:p.R86R 0.49 0.29 0.64 0.52 0.57 0.54 0.5735 0.3428 0.6453 0.4959 0.4939 0.6090 0.5413 0.5868 0.53 0.34 0.62 0.49 . rs1065479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5740 0.3244 0.6481 0.6437 0.4799 0.4876 0.6076 0.5824 0.5864 0.5191 0.3361 0.6415 0.65 0.4637 0.4819 0.6283 0.5616 het 293.71 31 17 2606715 . G A 293.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.223;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.92;MQ0=0;MQRankSum=-0.580;QD=9.47;ReadPosRankSum=0.060;VQSLOD=5.4495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,13:31:99:324,0,544 17 2868935 2868935 T C exonic RAP1GAP2 synonymous SNV RAP1GAP2:NM_001100398:exon7:c.T549C:p.L183L,RAP1GAP2:NM_001330058:exon8:c.T537C:p.L179L,RAP1GAP2:NM_015085:exon8:c.T594C:p.L198L 0.8 0.7 0.85 0.88 0.84 0.78 0.8251 0.7300 0.8444 0.8692 0.8431 0.8367 0.7997 0.7903 0.8 0.73 0.84 0.77 . rs12950923 COSM3766060;COSM3766059 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8228 0.7129 0.8398 0.8600 0.8574 0.8370 0.8303 0.8317 0.7859 0.8010 0.7140 0.8397 0.8609 0.8542 0.8301 0.8348 0.8143 hom 706.93 23 17 2868935 . T C 706.93 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.36;MQ0=0;QD=30.74;VQSLOD=8.8769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.17:740,57,0 17 2929392 2929392 G A exonic RAP1GAP2 synonymous SNV RAP1GAP2:NM_001100398:exon19:c.G1797A:p.P599P,RAP1GAP2:NM_001330058:exon20:c.G1785A:p.P595P,RAP1GAP2:NM_015085:exon20:c.G1842A:p.P614P 0.43 0.25 0.5 0.55 0.41 0.53 0.4395 0.2679 0.5634 0.5425 0.4677 0.4107 0.4261 0.5055 0.36 0.27 0.41 0.39 . rs55904912 COSM3932535;COSM148146 1(stomach);1(urinary_tract);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4410 0.2602 0.5507 0.3272 0.5333 0.4598 0.4094 0.4248 0.4995 0.3928 0.2699 0.4952 0.3543 0.5237 0.4525 0.4275 0.4509 het 678.19 53 17 2929392 . G A 678.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.122;DP=53;Dels=0.00;FS=2.477;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.859;QD=12.80;ReadPosRankSum=-1.326;VQSLOD=5.1027;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,26:53:99:708,0,688 17 3100827 3100827 T C exonic OR1A2 synonymous SNV OR1A2:NM_012352:exon1:c.T15C:p.N5N 0.29 0.061 0.29 0.56 0.35 0.27 0.3470 0.0998 0.2928 0.5565 0.4093 0.3720 0.3868 0.2997 0.28 0.12 0.37 0.24 0.4 rs2241093 COSM148147 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3469 0.0958 0.2932 0.3700 0.5563 0.3985 0.3701 0.3409 0.2835 0.3067 0.1007 0.3138 0.33 0.5934 0.4124 0.3664 0.3663 het 1060.81 107 17 3100827 . T C 1060.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.371;DP=107;Dels=0.00;FS=5.074;HRun=1;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;MQRankSum=-0.782;QD=9.91;ReadPosRankSum=-0.858;VQSLOD=5.1720;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,44:107:99:1091,0,1621 17 3101076 3101076 G C exonic OR1A2 synonymous SNV OR1A2:NM_012352:exon1:c.G264C:p.G88G 0.86 0.89 0.73 0.82 0.94 0.9 0.8870 0.8766 0.6288 0.7995 0.9294 0.9369 0.8874 0.9063 0.92 0.88 0.94 0.91 0.93 rs2241092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8758 0.8761 0.6404 0.9353 0.8011 0.9309 0.9377 0.8904 0.9045 0.9043 0.8804 0.6957 0.9404 0.8261 0.9298 0.9319 0.8990 hom 5130.36 143 17 3101076 . G C 5130.36 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.06;MQ0=0;QD=35.88;VQSLOD=8.8151;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:5130,400,0 17 3101578 3101578 G T exonic OR1A2 nonsynonymous SNV OR1A2:NM_012352:exon1:c.G766T:p.G256C 0.28 0.032 0.29 0.56 0.35 0.26 0.3404 0.0773 0.2911 0.5560 0.4093 0.3700 0.3822 0.2782 0.28 0.095 0.37 0.24 0.39 rs2241091 COSM5425324 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.037 0.430 D 1.0 0.899 D 0.999 0.916 D 0.000 0.504 D 0.985 0.247 P 1.025 0.256 L 8.71 0.001 T -5.84 0.884 D 0.268 0.326 -1.124 0.021 T 0.000 0.000 T . . . 5.203 0.703 25.5 0.996 0.726 0.075 0.134 N c 0.100 -0.036 0.000 0.012 0.487 0.133 0 3.02 0.338 0.096 0.149 -0.407 0.061 0.000 0.063 0.280 0.233 3.797 0.082 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3436 0.0725 0.2912 0.3697 0.5547 0.3986 0.3698 0.3403 0.2751 0.2993 0.0771 0.3106 0.3311 0.5914 0.4124 0.3655 0.3609 het 1774.92 148 17 3101578 . G T 1774.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.808;DP=148;Dels=0.00;FS=1.300;HRun=0;HaplotypeScore=0.9867;MQ=59.28;MQ0=0;MQRankSum=-1.302;QD=11.99;ReadPosRankSum=0.791;VQSLOD=6.2248;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,68:148:99:1805,0,2451 17 3101691 3101691 G T exonic OR1A2 nonsynonymous SNV OR1A2:NM_012352:exon1:c.G879T:p.W293C 0.29 0.06 0.29 0.56 0.35 0.26 0.3427 0.0994 0.2918 0.5558 0.4093 0.3703 0.3833 0.2783 0.28 0.11 0.37 0.24 0.39 rs12150427 COSM148148 2(haematopoietic_and_lymphoid_tissue);1(stomach);3(prostate);1(large_intestine) . . . . . . . . . . . 0.009 0.574 D 0.007 0.131 B 0.002 0.063 B 0.072 0.214 N 0.987 0.245 P 0.345 0.112 N 1.22 0.370 T -0.11 0.087 N 0.118 0.130 -0.924 0.451 T 0.000 0.000 T . . . 1.269 0.217 12.11 0.662 0.078 0.084 0.142 N c -1.162 -1.238 0.000 0.012 0.487 0.133 0 -3.05 0.050 -0.227 0.091 0.050 0.161 0.000 0.063 0.009 0.108 5.026 0.136 . . . 0.3451 0.0951 0.2921 0.3697 0.5547 0.3985 0.3697 0.3402 0.2751 0.3058 0.0995 0.3141 0.3356 0.5933 0.4121 0.3655 0.3604 het 1374.91 151 17 3101691 . G T 1374.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.984;DP=151;Dels=0.00;FS=3.065;HRun=0;HaplotypeScore=4.4197;MQ=59.60;MQ0=0;MQRankSum=0.313;QD=9.11;ReadPosRankSum=-1.814;VQSLOD=4.7292;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:94,57:151:99:1405,0,2612 17 3119008 3119008 T C exonic OR1A1 synonymous SNV OR1A1:NM_014565:exon1:c.T94C:p.L32L 0.83 0.83 0.72 0.74 0.91 0.9 0.8665 0.8373 0.6244 0.7087 0.9277 0.9170 0.8789 0.9079 0.9 0.84 0.93 0.83 0.91 rs4325604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8587 0.8355 0.6338 0.9366 0.7058 0.9278 0.9184 0.8742 0.9072 0.8749 0.8332 0.6909 0.9338 0.7050 0.9273 0.9137 0.8847 hom 6243 186 17 3119008 . T C 6243 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5494;MQ=59.33;MQ0=0;QD=33.56;VQSLOD=9.1990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:6243,479,0 17 3119049 3119049 C T exonic OR1A1 synonymous SNV OR1A1:NM_014565:exon1:c.C135T:p.I45I 0.06 0.16 0.043 . 0.055 0.011 0.0582 0.1502 0.0386 0 0.0413 0.0674 0.0518 0.0141 0.097 0.15 0.069 0.022 0.18 rs4374201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0560 0.1540 0.0389 0.0951 5.798e-05 0.0411 0.0666 0.0600 0.0159 0.0776 0.1453 0.0501 0.0728 0.0006 0.0432 0.0579 0.0501 het 3951.49 250 17 3119049 . C T 3951.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.528;DP=250;DS;Dels=0.00;FS=4.526;HRun=1;HaplotypeScore=7.6947;MQ=58.95;MQ0=0;MQRankSum=-0.332;QD=15.81;ReadPosRankSum=-0.562;VQSLOD=4.3957;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,118:250:99:3321,0,3395 17 3119297 3119297 G A exonic OR1A1 nonsynonymous SNV OR1A1:NM_014565:exon1:c.G383A:p.R128H 0.06 0.16 0.043 . 0.055 0.011 0.0576 0.1498 0.0386 0 0.0379 0.0667 0.0518 0.0141 0.097 0.15 0.069 0.022 0.18 rs4375699 COSM5414581 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.004 0.112 B 0.004 0.093 B 0.014 0.286 N 0.991 0.240 P -1.28 0.007 N 7.57 0.004 T 3.02 0.001 N 0.111 0.120 -1.070 0.093 T 0.000 0.000 T . . . -0.026 0.091 2.343 0.575 0.056 0.052 0.109 N c -1.602 -1.386 0.000 0.050 0.487 0.133 0 1.92 0.248 -0.853 0.044 -3.032 0.001 0.000 0.063 0.000 0.016 7.649 0.273 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0554 0.1536 0.0388 0.0951 5.8e-05 0.0384 0.0661 0.0592 0.0160 0.0768 0.1453 0.0501 0.0728 0 0.0404 0.0571 0.0490 het 1969.57 181 17 3119297 . G A 1969.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.727;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3381;MQ=59.33;MQ0=0;MQRankSum=1.309;QD=10.88;ReadPosRankSum=0.640;VQSLOD=4.6113;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,79:181:99:2000,0,2252 17 3119397 3119397 G T exonic OR1A1 synonymous SNV OR1A1:NM_014565:exon1:c.G483T:p.L161L 0.14 0.24 0.16 0.012 0.088 0.16 0.0991 0.2090 0.1450 0.0123 0.0634 0.0821 0.1123 0.1250 0.12 0.19 0.078 0.21 0.074 rs769425 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0971 0.2111 0.1433 0.0968 0.0120 0.0643 0.0800 0.1032 0.1229 0.1169 0.2061 0.1471 0.1060 0.0173 0.0716 0.0870 0.0837 het 2169.75 159 17 3119397 . G T 2169.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.783;DP=159;Dels=0.00;FS=5.801;HRun=1;HaplotypeScore=4.3330;MQ=59.42;MQ0=0;MQRankSum=0.477;QD=13.65;ReadPosRankSum=1.700;VQSLOD=4.4408;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,80:159:99:2200,0,2432 17 3119611 3119611 G A exonic OR1A1 nonsynonymous SNV OR1A1:NM_014565:exon1:c.G697A:p.V233M 0.099 0.11 0.16 0.005 0.089 0.15 0.0873 0.0859 0.1391 0.0047 0.0634 0.0820 0.1024 0.1250 0.077 0.076 0.078 0.12 0.074 rs17762735 . . . . . . . . . . . . . 0.202 0.202 T 0.126 0.253 B 0.031 0.206 B 0.066 0.219 N 1 0.090 P -0.625 0.021 N 8.74 0.001 T 0.34 0.038 N 0.016 0.003 -1.000 0.299 T 0.000 0.000 T . . . 0.701 0.161 8.836 0.945 0.244 0.016 0.051 N c -1.023 -1.065 0.000 0.012 0.487 0.133 0 -2.51 0.060 -0.879 0.043 -3.604 0.001 0.000 0.063 0.000 0.016 5.240 0.147 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0876 0.0848 0.1365 0.0966 0.0046 0.0644 0.0798 0.0976 0.1228 0.0815 0.0839 0.1325 0.1060 0.0086 0.0716 0.0871 0.0786 het 3151.34 232 17 3119611 . G A 3151.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.433;DP=232;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4080;MQ=58.94;MQ0=0;MQRankSum=-1.413;QD=13.58;ReadPosRankSum=-1.614;VQSLOD=5.1162;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:117,115:232:99:3181,0,3180 17 3181555 3181555 A G exonic OR3A2 synonymous SNV OR3A2:NM_002551:exon1:c.T675C:p.T225T 0.26 0.48 0.24 0.074 0.14 0.29 0.1753 0.4172 0.2399 0.0654 0.1178 0.1209 0.1630 0.2790 0.22 0.41 0.12 0.34 0.09 rs2013809 COSM3755389 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1728 0.4234 0.2387 0.1570 0.0671 0.1206 0.1177 0.1680 0.2795 0.2039 0.4107 0.2297 0.1457 0.0630 0.1239 0.1211 0.1421 het 1393.98 116 17 3181555 . A G 1393.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.858;DP=116;Dels=0.00;FS=1.613;HRun=1;HaplotypeScore=2.8083;MQ=52.79;MQ0=0;MQRankSum=-0.199;QD=12.02;ReadPosRankSum=-0.466;VQSLOD=2.5046;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:62,53:116:99:1424,0,1869 17 3195503 3195503 C T exonic OR3A1 nonsynonymous SNV OR3A1:NM_002550:exon1:c.G374A:p.R125Q 0.55 0.25 0.54 0.93 0.54 0.59 0.5614 0.2864 0.6066 0.9299 0.6227 0.5464 0.6002 0.5438 0.46 0.31 0.54 0.46 0.66 rs703903 COSM4998070 2(pancreas) . . . . . . . . . . . 0.005 0.632 D 1.0 0.899 D 0.975 0.717 D 0.001 0.428 D 0.001 0.472 P 3.53 0.932 H -1.06 0.768 T -3.65 0.699 D 0.512 0.555 -0.966 0.380 T 0.000 0.000 T . . . 5.432 0.737 26.1 1.000 1.000 0.988 0.868 D c 0.864 0.800 1.000 0.747 0.487 0.133 0 5.31 0.750 5.032 0.637 0.066 0.173 1.000 0.715 0.991 0.552 17.710 0.882 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000262106.1 Testis 0.5678 0.2792 0.6016 0.4826 0.9280 0.6167 0.5470 0.5423 0.5445 0.5044 0.2899 0.5718 0.4868 0.9310 0.6249 0.5476 0.5678 het 2447.47 183 17 3195503 . C T 2447.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.517;DP=183;DS;Dels=0.00;FS=0.627;HRun=1;HaplotypeScore=5.8918;MQ=58.89;MQ0=2;MQRankSum=-0.193;QD=13.37;ReadPosRankSum=-0.428;VQSLOD=4.4742;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,86:183:99:2477,0,2431 17 3324810 3324810 A G exonic OR3A3 nonsynonymous SNV OR3A3:NM_012373:exon1:c.A949G:p.K317E 0.34 0.23 0.41 0.38 0.24 0.51 0.2905 0.2446 0.4977 0.3935 0.1990 0.2332 0.2652 0.4547 0.23 0.24 0.22 0.3 0.34 rs227787 COSM4000097 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.017 0.512 D 0.005 0.119 B 0.01 0.139 B . . . 1 0.090 P 0.39 0.122 N 1.08 0.394 T -1.24 0.314 N 0.085 0.080 -0.956 0.400 T 0.000 0.000 T . . . 1.822 0.280 15.12 0.922 0.210 0.076 0.134 N c -0.815 -0.855 0.000 0.012 0.487 0.133 0 2.01 0.254 0.783 0.263 0.867 0.377 0.001 0.137 0.024 0.140 4.398 0.107 . . . 0.2943 0.2428 0.4727 0.2355 0.3928 0.2010 0.2318 0.2801 0.4585 0.2426 0.2432 0.4294 0.2947 0.3538 0.2165 0.2247 0.2449 het 1908.52 148 17 3324810 . A G 1908.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.315;DP=148;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.9882;MQ=59.44;MQ0=0;MQRankSum=-0.184;QD=12.90;ReadPosRankSum=0.428;VQSLOD=6.1907;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,76:148:99:1939,0,1910 17 3397702 3397702 C T exonic ASPA synonymous SNV ASPA:NM_000049:exon5:c.C693T:p.Y231Y,ASPA:NM_001128085:exon6:c.C693T:p.Y231Y 0.2 0.23 0.18 0.05 0.31 0.22 0.2656 0.2382 0.1839 0.0485 0.3353 0.3165 0.2743 0.2191 0.29 0.24 0.31 0.29 0.2 rs12948217 COSM4129855 1(thyroid);1(cervix) Pathogenic\x2cBenign|Likely benign Spongy_degeneration_of_central_nervous_system\x2cnot_specified|Spongy_degeneration_of_central_nervous_system RCV000002727.5\x2cRCV000178705.2|RCV000297817.1 MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen|MedGen:OMIM:Orphanet:SNOMED_CT C0206307:271900:ORPHA141:80544005\x2cCN169374|C0206307:271900:ORPHA141:80544005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2602 0.2337 0.1910 0.2811 0.0451 0.3380 0.3119 0.2677 0.2179 0.2780 0.2394 0.2088 0.2914 0.0513 0.3153 0.3189 0.2924 het 2715.54 212 17 3397702 . C T 2715.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.482;DP=212;DS;Dels=0.00;FS=2.502;HRun=0;HaplotypeScore=6.6541;MQ=58.88;MQ0=0;MQRankSum=0.323;QD=12.81;ReadPosRankSum=-2.533;VQSLOD=3.2962;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:105,107:212:99:2746,0,2890 17 3422032 3422032 G A exonic TRPV3 synonymous SNV TRPV3:NM_001258205:exon15:c.C1923T:p.D641D,TRPV3:NM_145068:exon15:c.C1923T:p.D641D 0.67 0.52 0.6 0.95 0.55 0.75 0.5999 0.5636 0.6387 0.9530 0.4753 0.5390 0.5873 0.7024 0.53 0.55 0.52 0.65 0.52 rs7216486 COSM4785133;COSM3755411 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Palmoplantar_keratoderma\x2c_mutilating\x2c_with_periorificial_keratotic_plaques RCV000380409.1 MedGen:OMIM:Orphanet C2609071:614594:ORPHA659 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5892 0.5508 0.6312 0.6031 0.9523 0.4587 0.5215 0.5766 0.6959 0.5371 0.5606 0.6067 0.6233 0.9562 0.4653 0.4904 0.5174 het 710.84 68 17 3422032 . G A 710.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.059;DP=68;Dels=0.00;FS=2.190;HRun=0;HaplotypeScore=4.6290;MQ=59.32;MQ0=0;MQRankSum=-0.903;QD=10.45;ReadPosRankSum=-1.713;VQSLOD=4.7881;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,28:68:99:741,0,1079 17 3436080 3436080 C T exonic TRPV3 synonymous SNV TRPV3:NM_001258205:exon8:c.G936A:p.T312T,TRPV3:NM_145068:exon8:c.G936A:p.T312T 0.36 0.33 0.28 0.25 0.49 0.41 0.4269 0.3396 0.2153 0.2775 0.5377 0.4968 0.4449 0.3809 0.44 0.35 0.49 0.39 0.43 rs395357 COSM3755414;COSM4785134 1(liver);1(oesophagus);1(large_intestine) Benign Palmoplantar_keratoderma\x2c_mutilating\x2c_with_periorificial_keratotic_plaques RCV000393764.1 MedGen:OMIM:Orphanet C2609071:614594:ORPHA659 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4229 0.3403 0.2351 0.4386 0.2784 0.5289 0.5001 0.4531 0.3822 0.4391 0.3469 0.2924 0.4669 0.2618 0.5272 0.4976 0.4612 hom 4065.37 130 17 3436080 . C T 4065.37 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9226;MQ=59.44;MQ0=0;QD=31.27;VQSLOD=9.0047;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4065,328,0 17 3446885 3446885 T C exonic TRPV3 nonsynonymous SNV TRPV3:NM_001258205:exon5:c.A349G:p.R117G,TRPV3:NM_145068:exon5:c.A349G:p.R117G 0.25 0.12 0.21 0.25 0.4 0.31 0.3425 0.1546 0.1664 0.2733 0.4679 0.4090 0.3653 0.2999 0.32 0.17 0.4 0.28 0.3 rs322937 COSM4909331;COSM4000106 2(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign Palmoplantar_keratoderma\x2c_mutilating\x2c_with_periorificial_keratotic_plaques RCV000328718.1 MedGen:OMIM:Orphanet C2609071:614594:ORPHA659 . . . . . . 0.032 0.446 D 0.007 0.139 B 0.015 0.193 B 0.025 0.261 N 1.000 0.208 P 0.66 0.163 N -2.26 0.884 D -1.41 0.348 N 0.051 0.217 -1.061 0.115 T 0.000 0.000 T . . . 0.863 0.176 9.848 0.940 0.235 0.929 0.567 D c -0.601 -0.506 0.000 0.068 0.563 0.310 0 2.83 0.320 2.209 0.422 0.123 0.211 1.000 0.715 0.989 0.536 10.660 0.447 . . . 0.3419 0.1510 0.1844 0.3241 0.2768 0.4659 0.4136 0.3598 0.2977 0.3384 0.1628 0.2254 0.3046 0.2776 0.4800 0.4197 0.3633 hom 7431.93 229 17 3446885 . T C 7431.93 Mask AC=2;AF=1.00;AN=2;DP=229;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7340;MQ=59.46;MQ0=0;QD=32.45;VQSLOD=9.3455;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:7431,572,0 17 3458072 3458072 T C exonic TRPV3 nonsynonymous SNV TRPV3:NM_001258205:exon2:c.A73G:p.I25V,TRPV3:NM_145068:exon2:c.A73G:p.I25V 1. 0.99 1. 1. 1. 1. 0.9994 0.9936 1 1 1 1.0000 1 0.9999 1. 0.99 1. 0.99 0.98 rs322965 . . Benign Palmoplantar_keratoderma\x2c_mutilating\x2c_with_periorificial_keratotic_plaques RCV000292252.1 MedGen:OMIM:Orphanet C2609071:614594:ORPHA659 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.949 0.083 N 1 0.090 P -0.46 0.027 N 1.19 0.376 T 0.04 0.065 N 0.02 0.005 -1.024 0.224 T 0.000 0.000 T . . . -2.406 0.004 0.001 0.141 0.003 0.005 0.025 N c -1.429 -1.395 0.001 0.077 0.776 0.995 0 -0.188 0.126 -2.231 0.013 -2.767 0.002 0.000 0.063 0.000 0.016 5.512 0.161 . . . 0.9996 0.9941 0.9997 1 1 1 1.0000 0.9998 1.0000 0.9985 0.9951 1 1 1 1 1 0.9980 hom 1258.68 45 17 3458072 . T C 1258.68 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.81;MQ0=1;QD=27.97;VQSLOD=8.5192;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1292,108,0 17 3480447 3480447 T C exonic TRPV1 nonsynonymous SNV TRPV1:NM_080706:exon11:c.A1753G:p.I585V,TRPV1:NM_018727:exon12:c.A1753G:p.I585V,TRPV1:NM_080705:exon12:c.A1753G:p.I585V,TRPV1:NM_080704:exon13:c.A1753G:p.I585V 0.32 0.11 0.33 0.59 0.41 0.22 0.4522 0.2121 0.4874 0.6665 0.5078 0.4836 0.4518 0.3048 0.3 0.15 0.37 0.3 . rs8065080 COSM3766068;COSM3766067;COSM3766066 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.186 0.242 T 0.0 0.090 B 0.0 0.040 B 0.412 0.130 N 1 0.090 P 0.385 0.122 N -2.04 0.857 D -0.39 0.162 N 0.075 0.248 -0.914 0.464 T 0.000 0.000 T . . . -1.984 0.008 0.001 0.353 0.022 0.041 0.095 N c -1.650 -1.614 0.000 0.042 0.615 0.372 0 -1.93 0.071 -0.234 0.090 -3.005 0.001 0.219 0.243 0.025 0.141 10.197 0.420 Ion transport domain . . 0.3686 0.1415 0.3234 0.4675 0.5922 0.4401 0.3823 0.3796 0.2594 0.3325 0.1402 0.3501 0.4172 0.5817 0.4463 0.3844 0.3947 het 265.58 22 17 3480447 . T C 265.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.591;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=12.07;ReadPosRankSum=1.313;VQSLOD=11.8710;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,11:22:99:296,0,266 17 3486702 3486702 G A exonic TRPV1 nonsynonymous SNV TRPV1:NM_080706:exon8:c.C1406T:p.T469I,TRPV1:NM_018727:exon9:c.C1406T:p.T469I,TRPV1:NM_080705:exon9:c.C1406T:p.T469I,TRPV1:NM_080704:exon10:c.C1406T:p.T469I 0.38 0.038 0.35 0.77 0.37 0.46 0.4423 0.1040 0.4743 0.7758 0.4890 0.4192 0.4520 0.4648 0.26 0.085 0.34 0.25 . rs224534 COSM3755420;COSM3755419;COSM3755418 3(liver);1(large_intestine) . . . . . . . . . . . 0.019 0.501 D 0.025 0.341 B 0.056 0.309 B 0.117 0.192 N 1 0.090 P 2.88 0.837 M -2.88 0.915 D -3.25 0.709 D 0.492 0.634 -0.886 0.493 T 0.000 0.000 T . . . 1.502 0.243 13.33 0.988 0.457 0.679 0.333 D c -0.306 -0.302 0.012 0.123 0.615 0.372 0 4.12 0.473 1.273 0.325 0.953 0.551 0.816 0.297 0.510 0.273 3.733 0.080 Ion transport domain . . 0.3936 0.0704 0.4001 0.3863 0.7707 0.4533 0.3571 0.3732 0.4216 0.3186 0.0804 0.4007 0.4040 0.7902 0.4590 0.3636 0.3801 het 290.78 21 17 3486702 . G A 290.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.373;DP=21;Dels=0.00;FS=1.971;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.021;QD=13.85;ReadPosRankSum=-0.669;VQSLOD=6.3956;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,11:21:99:321,0,291 17 3494361 3494361 G A exonic TRPV1 synonymous SNV TRPV1:NM_080706:exon3:c.C501T:p.H167H,TRPV1:NM_018727:exon4:c.C501T:p.H167H,TRPV1:NM_080705:exon4:c.C501T:p.H167H,TRPV1:NM_080704:exon5:c.C501T:p.H167H 0.16 0.024 0.14 0.27 0.14 0.29 0.1473 0.0442 0.1536 0.2582 0.1339 0.1210 0.1333 0.2564 0.085 0.039 0.11 0.11 . rs222748 COSM1382779;COSM1382778;COSM3755424 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1364 0.0368 0.1419 0.1241 0.2429 0.1236 0.1108 0.1187 0.2301 0.0989 0.0419 0.1459 0.1358 0.2432 0.1209 0.1068 0.1166 het 256.56 31 17 3494361 . G A 256.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.638;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7886;MQ=58.79;MQ0=0;MQRankSum=2.442;QD=8.28;ReadPosRankSum=0.858;VQSLOD=5.3420;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,10:31:99:287,0,486 17 3495374 3495374 G A exonic TRPV1 nonsynonymous SNV TRPV1:NM_080706:exon1:c.C271T:p.P91S,TRPV1:NM_018727:exon2:c.C271T:p.P91S,TRPV1:NM_080705:exon2:c.C271T:p.P91S,TRPV1:NM_080704:exon3:c.C271T:p.P91S 0.096 0.0023 0.11 0.24 0.062 0.1 0.0741 0.0103 0.1166 0.2380 0.0277 0.0516 0.0519 0.1016 0.036 0.0096 0.049 0.065 . rs222749 COSM4988743;COSM4988745;COSM4988744 2(soft_tissue) . . . . . . . . . . . 0.172 0.260 T 0.179 0.352 B 0.052 0.270 B 0.034 0.018 N 0.945 0.588 P 1.845 0.488 L 1.56 0.296 T -1.52 0.410 N 0.37 0.495 -1.084 0.066 T 0.000 0.000 T . . . 1.366 0.228 12.61 0.991 0.529 0.251 0.224 N c -0.347 -0.320 0.084 0.160 0.554 0.283 0 3.69 0.413 0.542 0.228 1.048 0.713 0.020 0.195 0.008 0.104 9.506 0.380 . . . 0.0737 0.0084 0.1179 0.0213 0.2385 0.0315 0.0508 0.0576 0.0970 0.0480 0.0127 0.1193 0.0232 0.2401 0.0295 0.0491 0.0418 het 363.97 32 17 3495374 . G A 363.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.171;DP=32;Dels=0.00;FS=6.327;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=0.095;QD=11.37;ReadPosRankSum=1.462;VQSLOD=4.8149;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,14:32:99:394,0,496 17 3514028 3514028 G C exonic SHPK nonsynonymous SNV SHPK:NM_013276:exon7:c.C1263G:p.D421E 1. 1. 1. 1. 1. 1. 0.9999 0.9989 1 1 1 1 1 1 1. 1. 1. 0.98 0.98 rs224496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9988 1 1 1 1 1 1 1 0.9998 0.9992 1 1 1 1 1 1 hom 8182.30 243 17 3514028 . G C 8182.30 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3264;MQ=58.72;MQ0=0;QD=33.67;VQSLOD=3.2107;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,243:243:99:8181,653,0 17 3526637 3526637 C T exonic SHPK nonsynonymous SNV SHPK:NM_013276:exon4:c.G643A:p.E215K 0.28 0.5 0.17 0.24 0.11 0.27 0.1579 0.4458 0.1340 0.2293 0.0688 0.0995 0.1269 0.2293 0.21 0.43 0.097 0.23 0.17 rs150857 . . . . . . . . . . . . . 0.03 0.453 D 0.282 0.304 B 0.243 0.370 B 0.013 0.289 N 0.797 0.291 P 2.2 0.622 M 0.75 0.502 T -2.15 0.486 N 0.077 0.135 -0.873 0.503 T 0.000 0.000 T . . . 3.810 0.515 23.4 0.997 0.814 0.922 0.550 D c -0.065 -0.035 0.156 0.175 0.707 0.730 0 4.12 0.473 2.470 0.445 0.852 0.362 0.953 0.330 0.579 0.285 15.477 0.751 Carbohydrate kinase\x2c FGGY\x2c N-terminal . . 0.1497 0.4475 0.1428 0.0820 0.2274 0.0794 0.1000 0.1264 0.2227 0.1952 0.4297 0.1567 0.0662 0.2301 0.0739 0.0930 0.1191 het 2666.32 250 17 3526637 . C T 2666.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.054;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3862;MQ=59.65;MQ0=0;MQRankSum=0.882;QD=10.67;ReadPosRankSum=-0.450;VQSLOD=6.2357;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:149,100:250:99:2696,0,4347 17 3559823 3559823 G A exonic CTNS synonymous SNV CTNS:NM_001031681:exon8:c.G504A:p.T168T,CTNS:NM_004937:exon8:c.G504A:p.T168T 0.15 0.015 0.19 0.21 0.21 0.18 0.1864 0.0433 0.2401 0.2129 0.2602 0.1907 0.2196 0.1764 0.14 0.047 0.18 0.13 0.18 rs1800528 COSM5427406;COSM5427405 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Nephropathic_cystinosis|Cystinosis RCV000246446.1|RCV000277810.1|RCV000370416.1 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT CN169374|C0010690:219800|CN035091:ORPHA213:190681003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1838 0.0372 0.2317 0.1295 0.2008 0.2319 0.1860 0.1953 0.1675 0.1611 0.0431 0.2048 0.1351 0.2235 0.2369 0.2009 0.1950 hom 2094.89 62 17 3559823 . G A 2094.89 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;QD=33.79;VQSLOD=9.7386;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:2128,169,0 17 3561396 3561396 C T exonic CTNS nonsynonymous SNV CTNS:NM_001031681:exon10:c.C779T:p.T260I,CTNS:NM_004937:exon10:c.C779T:p.T260I 0.82 0.51 0.92 0.93 0.94 0.93 0.9183 0.5849 0.9609 0.9313 0.9723 0.9549 0.9283 0.9211 0.83 0.6 0.96 0.8 0.94 rs161400 . . Benign|Benign|Benign not_specified|Nephropathic_cystinosis|Cystinosis RCV000248355.1|RCV000339531.1|RCV000380229.1 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT CN169374|C0010690:219800|CN035091:ORPHA213:190681003 . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.040 B 0.000 0.523 N 0.070 0.380 P -0.57 0.023 N -3.6 0.950 D 3.13 0.002 N 0.062 0.069 -0.948 0.414 T 0.000 0.000 T . . . 1.215 0.212 11.82 0.844 0.148 0.483 0.279 N c -0.666 -0.419 1.000 0.747 0.635 0.413 0 2.87 0.324 2.403 0.439 0.065 0.171 1.000 0.715 0.593 0.287 4.667 0.120 . . . 0.9265 0.5869 0.9575 0.9063 0.9339 0.9670 0.9577 0.9305 0.9208 0.8604 0.6145 0.9462 0.8808 0.9370 0.9648 0.9601 0.9405 hom 4683.89 143 17 3561396 . C T 4683.89 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0884;MQ=59.68;MQ0=0;QD=32.75;VQSLOD=8.7438;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4683,391,0 17 3568012 3568012 A G exonic TAX1BP3 synonymous SNV TAX1BP3:NM_001204698:exon2:c.T120C:p.D40D,TAX1BP3:NM_014604:exon2:c.T120C:p.D40D 0.79 0.79 0.85 0.67 0.89 0.77 0.8451 0.8107 0.7939 0.6912 0.8689 0.8928 0.8374 0.7815 0.87 0.82 0.89 0.78 0.88 rs8278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8447 0.8089 0.7953 0.9060 0.7011 0.8721 0.8925 0.8525 0.7826 0.8490 0.8111 0.8246 0.8874 0.6835 0.8659 0.8848 0.8607 het 1529.68 109 17 3568012 . A G 1529.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.576;DP=109;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.9170;MQ=59.31;MQ0=0;MQRankSum=0.380;QD=14.03;ReadPosRankSum=1.351;VQSLOD=5.6863;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,58:109:99:1560,0,1247 17 3594277 3594277 G - exonic P2RX5 frameshift deletion P2RX5:NM_001204519:exon3:c.333delC:p.N112Tfs*35,P2RX5:NM_002561:exon3:c.333delC:p.N112Tfs*35 0.57 0.17 0.78 0.81 0.69 0.6 0.6676 0.2610 0.8232 0.8099 0.7390 0.6923 0.6617 0.5999 0.54 0.27 0.68 . . rs869269653 COSM3722925 1(upper_aerodigestive_tract);4(central_nervous_system) Benign not_specified RCV000455819.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6761 0.2444 0.8074 0.5846 0.8149 0.7259 0.6942 0.6592 0.5986 0.5836 0.2657 0.7680 0.5733 0.8204 0.7230 0.6957 0.6677 het 723.59 55 17 3594276 . TG T 723.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.798;DP=55;FS=0.000;HRun=5;HaplotypeScore=134.5250;MQ=60.25;MQ0=0;MQRankSum=0.604;QD=13.16;ReadPosRankSum=-1.740;set=variant2 GT:AD:DP:GQ:PL 0/1:27,28:55:99:763,0,870 17 3628362 3628362 T C exonic HASPIN nonsynonymous SNV HASPIN:NM_031965:exon1:c.T1133C:p.V378A 0.53 0.68 0.35 0.34 0.55 0.64 0.5145 0.6466 0.2549 0.3662 0.4852 0.5357 0.5530 0.6147 0.58 0.64 0.54 0.55 0.58 rs3809806 COSM1128744;COSM4386344 1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.470 0.049 N 1 0.090 P -1.24 0.008 N 3.47 0.052 T 0.92 0.016 N 0.006 0.000 -0.977 0.356 T 0.000 0.000 T . . . -1.165 0.026 0.008 0.764 0.111 0.007 0.029 N c -1.314 -1.277 1.000 0.462 0.543 0.218 0 0.989 0.188 -0.138 0.103 -1.107 0.018 0.000 0.063 0.001 0.043 4.249 0.101 . . . 0.4998 0.6391 0.2696 0.5255 0.3569 0.4818 0.5407 0.5058 0.6171 0.5357 0.6276 0.3305 0.5099 0.3424 0.4779 0.5293 0.5245 het 1094.47 89 17 3628362 . T C 1094.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.252;DP=89;Dels=0.00;FS=4.167;HRun=1;HaplotypeScore=1.7825;MQ=59.74;MQ0=0;MQRankSum=1.786;QD=12.30;ReadPosRankSum=0.384;VQSLOD=5.9177;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,40:89:99:1124,0,1276 17 3631241 3631241 A G exonic ITGAE nonsynonymous SNV ITGAE:NM_002208:exon26:c.T3056C:p.V1019A 0.28 0.65 0.21 0.048 0.24 0.12 0.2166 0.5794 0.1652 0.0491 0.1562 0.2175 0.2093 0.1326 0.34 0.56 0.22 0.3 0.26 rs2976230 COSM3766072 4(pancreas);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.054 0.386 T 0.625 0.381 P 0.252 0.373 B . . . 1 0.090 P 2.08 0.576 M 0.8 0.488 T -1.37 0.340 N 0.074 0.064 -0.948 0.414 T 0.000 0.000 T . . . 0.944 0.184 10.33 0.799 0.125 0.034 0.084 N c -0.687 -0.762 0.996 0.343 0.554 0.283 0 3.19 0.356 1.348 0.334 0.243 0.267 0.002 0.151 0.002 0.062 7.235 0.251 . . . 0.2069 0.5770 0.1741 0.2332 0.0473 0.1504 0.2197 0.2100 0.1334 0.2890 0.5524 0.1986 0.2252 0.0402 0.1544 0.2073 0.1840 het 1292.06 79 17 3631241 . A G 1292.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.128;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;MQRankSum=-0.754;QD=16.36;ReadPosRankSum=0.132;VQSLOD=6.9029;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,54:79:99:1322,0,570 17 3649214 3649214 G A exonic ITGAE synonymous SNV ITGAE:NM_002208:exon18:c.C2163T:p.R721R 0.72 0.92 0.83 0.45 0.83 0.5 0.7253 0.9126 0.7560 0.4422 0.7778 0.7789 0.7137 0.4942 0.83 0.91 0.79 0.73 0.77 rs1183610 COSM3766074 1(haematopoietic_and_lymphoid_tissue);2(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7263 0.9176 0.7740 0.6864 0.4305 0.7730 0.7908 0.7405 0.4879 0.7940 0.9079 0.7983 0.7333 0.4524 0.7616 0.7767 0.7316 hom 5573.73 190 17 3649214 . G A 5573.73 Mask AC=2;AF=1.00;AN=2;DP=190;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5921;MQ=58.69;MQ0=0;QD=29.34;VQSLOD=7.2693;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:190:99:5573,451,0 17 3654980 3654980 A G exonic ITGAE synonymous SNV ITGAE:NM_002208:exon15:c.T1857C:p.N619N 0.14 0.17 0.091 0.17 0.11 0.14 0.1235 0.1677 0.0886 0.1693 0.1936 0.1014 0.1608 0.1556 0.12 0.16 0.099 0.17 0.041 rs11652878 COSM4415814 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1240 0.1696 0.0904 0.1391 0.1632 0.1909 0.0982 0.1286 0.1558 0.1409 0.1707 0.1002 0.1325 0.1537 0.2082 0.1076 0.1592 het 680.99 73 17 3654980 . A G 680.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.474;DP=73;Dels=0.00;FS=3.350;HRun=0;HaplotypeScore=3.3227;MQ=58.53;MQ0=0;MQRankSum=0.362;QD=9.33;ReadPosRankSum=-0.932;VQSLOD=5.1123;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,33:73:99:711,0,1141 17 3657159 3657159 C T exonic ITGAE nonsynonymous SNV ITGAE:NM_002208:exon13:c.G1445A:p.R482Q 0.55 0.77 0.52 0.23 0.75 0.41 0.6073 0.7433 0.4576 0.2146 0.6638 0.7085 0.5938 0.4009 0.73 0.74 0.72 0.56 0.72 rs2272606 COSM3766075 1(haematopoietic_and_lymphoid_tissue);2(liver);1(large_intestine) . . . . . . . . . . . 0.043 0.413 D 0.783 0.424 P 0.058 0.250 B . . . 1 0.090 P 2.075 0.572 M 1.04 0.402 T -3.5 0.681 D 0.107 0.114 -0.975 0.362 T 0.000 0.000 T . . . 2.667 0.382 20.6 0.993 0.596 0.023 0.066 N c -0.564 -0.727 0.099 0.163 0.428 0.059 0 0.437 0.157 -0.042 0.119 0.069 0.176 0.000 0.063 0.036 0.153 7.430 0.261 . . . 0.6010 0.7458 0.4805 0.6197 0.2137 0.6630 0.7185 0.6166 0.3973 0.6745 0.7371 0.5358 0.65 0.2372 0.6393 0.7056 0.6132 het 1324.39 116 17 3657159 . C T 1324.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.793;DP=116;Dels=0.00;FS=0.708;HRun=0;HaplotypeScore=4.3998;MQ=58.37;MQ0=0;MQRankSum=-0.112;QD=11.42;ReadPosRankSum=0.320;VQSLOD=5.2922;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,52:116:99:1354,0,1454 17 3657175 3657175 T C exonic ITGAE nonsynonymous SNV ITGAE:NM_002208:exon13:c.A1429G:p.I477V 0.71 0.99 0.62 0.41 0.86 0.56 0.7359 0.9622 0.5480 0.3869 0.8568 0.8100 0.7566 0.5579 0.86 0.96 0.82 0.73 0.78 rs220479 COSM3766076 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P -1.18 0.009 N 2.37 0.160 T 0.3 0.041 N 0.037 0.017 -1.005 0.284 T 0.000 0.000 T . . . -3.189 0.001 0.001 0.237 0.010 0.003 0.014 N c -1.956 -1.913 0.474 0.207 0.428 0.059 0 -3.83 0.040 -0.567 0.060 -0.884 0.027 0.000 0.063 0.016 0.126 6.700 0.223 . . . 0.7293 0.9681 0.5741 0.7588 0.3790 0.8539 0.8172 0.7487 0.5544 0.8313 0.9623 0.6420 0.7848 0.3937 0.8477 0.8137 0.7757 hom 2787.21 96 17 3657175 . T C 2787.21 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=58.67;MQ0=0;QD=29.03;VQSLOD=8.5243;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2820,235,0 17 3775848 3775848 T C exonic CAMKK1 nonsynonymous SNV CAMKK1:NM_032294:exon12:c.A1124G:p.E375G,CAMKK1:NM_172206:exon12:c.A1205G:p.E402G,CAMKK1:NM_172207:exon13:c.A1238G:p.E413G 0.4 0.1 0.54 0.4 0.44 0.63 0.4395 0.1531 0.5780 0.3606 0.3808 0.4348 0.4657 0.6052 0.35 0.17 0.45 0.32 0.29 rs7214723 COSM5618453;COSM5618452 1(breast) . . . . . . . . . . . 0.037 0.446 D 0.008 0.147 B 0.009 0.282 B 0.078 0.211 N 0.000 0.485 P 0.825 0.210 L 0.78 0.494 T -2.77 0.587 D 0.07 0.204 -0.922 0.453 T 0.000 0.000 T . . . 2.876 0.406 21.7 0.996 0.727 0.960 0.669 D c -0.143 0.017 0.001 0.073 0.732 0.924 0 4.1 0.470 2.096 0.411 1.043 0.663 0.994 0.380 0.997 0.653 10.748 0.452 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain;Protein kinase-like domain . . 0.4502 0.1482 0.5680 0.4480 0.3516 0.3973 0.4389 0.4522 0.6067 0.3392 0.1591 0.5263 0.42 0.3093 0.3630 0.4263 0.3945 het 554.17 59 17 3775848 . T C 554.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.832;DP=59;Dels=0.00;FS=3.753;HRun=2;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;MQRankSum=1.321;QD=9.39;ReadPosRankSum=-0.527;VQSLOD=6.0438;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,26:59:99:584,0,817 17 3775916 3775916 T C exonic CAMKK1 synonymous SNV CAMKK1:NM_032294:exon12:c.A1056G:p.P352P,CAMKK1:NM_172206:exon12:c.A1137G:p.P379P,CAMKK1:NM_172207:exon13:c.A1170G:p.P390P 0.63 0.46 0.75 0.41 0.8 0.82 0.7433 0.5064 0.7253 0.3633 0.8405 0.8030 0.7489 0.8231 0.71 0.52 0.8 0.63 0.71 rs7214864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7458 0.5052 0.7194 0.7398 0.3535 0.8507 0.8052 0.7633 0.8210 0.7027 0.5115 0.7182 0.7351 0.3150 0.8279 0.8213 0.7627 hom 1466.43 50 17 3775916 . T C 1466.43 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.33;VQSLOD=14.3471;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1499,129,0 17 3828702 3828702 T C exonic ATP2A3 synonymous SNV ATP2A3:NM_174955:exon22:c.A3102G:p.R1034R 0.29 0.18 0.44 0.29 0.34 0.27 0.3520 0.2130 0.4584 0.2829 0.3365 0.3801 0.3451 0.2932 0.33 0.22 0.38 0.34 0.48 rs887387 COSM5618933;COSM3766079 2(breast);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3526 0.2048 0.4449 0.3945 0.2831 0.3220 0.3766 0.3475 0.2877 0.3057 0.2057 0.4236 0.4073 0.2999 0.3302 0.3477 0.3443 het 516.63 38 17 3828702 . T C 516.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.921;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7214;MQ=59.51;MQ0=0;MQRankSum=-0.161;QD=13.60;ReadPosRankSum=0.219;VQSLOD=6.6096;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:547,0,426 17 3844571 3844571 G C exonic ATP2A3 synonymous SNV ATP2A3:NM_005173:exon14:c.C1794G:p.G598G,ATP2A3:NM_174953:exon14:c.C1794G:p.G598G,ATP2A3:NM_174954:exon14:c.C1794G:p.G598G,ATP2A3:NM_174955:exon14:c.C1794G:p.G598G,ATP2A3:NM_174956:exon14:c.C1794G:p.G598G,ATP2A3:NM_174957:exon14:c.C1794G:p.G598G,ATP2A3:NM_174958:exon14:c.C1794G:p.G598G . . . . . . 0.0001 0 0 0 0 0.0002 0 0 0.0001 . 0.0001 . . rs374261780 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0 0 0 0 0 0.0003 0 0 0.0001 0 0 0 0 0 0.0003 0 het 859.18 77 17 3844571 . G C 859.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.060;DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5216;MQ=59.52;MQ0=0;MQRankSum=0.619;QD=11.16;ReadPosRankSum=-0.264;VQSLOD=4.9698;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,32:77:99:889,0,1404 17 3916823 3916823 G A exonic ZZEF1 synonymous SNV ZZEF1:NM_015113:exon52:c.C8499T:p.G2833G 0.2 0.3 0.21 0.073 0.2 0.19 0.1967 0.2728 0.2327 0.0762 0.1800 0.1950 0.2119 0.1988 0.22 0.26 0.19 0.25 0.26 rs8075562 COSM4000135 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1951 0.2793 0.2380 0.1814 0.0792 0.1740 0.1941 0.2046 0.1930 0.2108 0.2881 0.2542 0.1556 0.0916 0.1880 0.1851 0.1724 het 1432.83 109 17 3916823 . G A 1432.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.330;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3235;MQ=59.15;MQ0=0;MQRankSum=-0.925;QD=13.15;ReadPosRankSum=-0.445;VQSLOD=6.2916;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,54:109:99:1463,0,1398 17 3916824 3916824 C T exonic ZZEF1 nonsynonymous SNV ZZEF1:NM_015113:exon52:c.G8498A:p.G2833D 0.0002 . . . 0.001 . 0.0005 0.0008 0.0003 0 0.0002 0.0007 0.0022 0 0.0008 0.0005 0.001 . . rs147838442 . . . . . . . . . . . . . 0.002 0.721 D 0.995 0.657 D 0.871 0.601 P 0.000 0.843 D 1 0.810 D 1.905 0.510 L 1.97 0.221 T -2.79 0.590 D 0.762 0.756 -1.114 0.027 T 0.091 0.349 T 0.020 0.428 T 7.018 0.938 33 0.998 0.907 0.993 0.942 D c 0.689 0.741 1.000 0.747 0.732 0.924 0 5.92 0.955 7.378 0.788 0.935 0.490 1.000 0.715 0.979 0.486 20.321 0.987 . . . 0.0005 0.0007 0.0005 0 0 0 0.0008 0.0007 0 0.0005 0.0005 0 0 0 0 0.0007 0 het 1366.82 119 17 3916824 . C T 1366.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.817;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2131;MQ=58.90;MQ0=0;MQRankSum=0.612;QD=11.49;ReadPosRankSum=0.003;VQSLOD=3.9898;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1397,0,1715 17 3926110 3926110 C G exonic ZZEF1 nonsynonymous SNV ZZEF1:NM_015113:exon44:c.G7105C:p.E2369Q 0.14 0.25 0.13 0.072 0.071 0.16 0.1037 0.2613 0.1750 0.0778 0.0775 0.0648 0.0971 0.1362 0.13 0.27 0.058 0.16 0.15 rs711177 COSM4000148 1(breast);4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.069 0.355 T 0.18 0.274 B 0.044 0.230 B 0.000 0.523 N 0.000 0.482 P 0.955 0.240 L 1.71 0.267 T -0.83 0.227 N 0.176 0.214 -0.969 0.375 T 0.000 0.000 T . . . 2.779 0.395 21.3 0.998 0.893 0.984 0.820 D c -0.078 0.113 0.996 0.344 0.707 0.730 0 4.97 0.653 3.590 0.535 0.935 0.490 1.000 0.715 1.000 0.888 11.065 0.470 . . . 0.1018 0.2575 0.1679 0.1071 0.0802 0.0763 0.0608 0.0934 0.1315 0.1213 0.2517 0.1695 0.0894 0.0903 0.0886 0.0575 0.0776 het 1281.57 146 17 3926110 . C G 1281.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.900;DP=146;Dels=0.00;FS=2.313;HRun=0;HaplotypeScore=2.5584;MQ=58.67;MQ0=0;MQRankSum=-0.002;QD=8.78;ReadPosRankSum=0.402;VQSLOD=5.2232;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,49:146:99:1312,0,2529 17 3947644 3947644 T C exonic ZZEF1 nonsynonymous SNV ZZEF1:NM_015113:exon38:c.A6040G:p.I2014V 0.52 0.82 0.53 0.35 0.42 0.39 0.4518 0.7866 0.6304 0.3513 0.4107 0.4008 0.4492 0.3906 0.53 0.77 0.41 0.59 0.47 rs781831 COSM4000159 2(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.557 0.064 T 0.0 0.026 B 0.0 0.013 B 0.384 0.133 N 1 0.090 P -1.245 0.008 N 2.17 0.190 T 0.21 0.048 N 0.057 0.040 -1.038 0.179 T 0.000 0.000 T . . . -0.817 0.039 0.039 0.514 0.045 0.003 0.017 N c -1.481 -1.467 0.040 0.144 0.732 0.924 0 -2.65 0.057 -1.372 0.027 0.069 0.176 0.000 0.063 0.630 0.294 10.601 0.444 . ENSG00000185722.12 Cells_Transformed_fibroblasts 0.4516 0.7914 0.6223 0.3838 0.3480 0.4066 0.4017 0.4604 0.3885 0.5175 0.7927 0.6074 0.3767 0.3493 0.4325 0.4002 0.4049 het 776.86 54 17 3947644 . T C 776.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.104;DP=54;Dels=0.00;FS=2.681;HRun=0;HaplotypeScore=0.9332;MQ=59.31;MQ0=0;MQRankSum=-0.852;QD=14.39;ReadPosRankSum=0.027;VQSLOD=6.4821;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,30:54:99:807,0,630 17 3953083 3953083 T C exonic ZZEF1 synonymous SNV ZZEF1:NM_015113:exon37:c.A5934G:p.P1978P 0.46 0.78 0.41 0.24 0.4 0.37 0.4091 0.7463 0.4299 0.2526 0.3809 0.3844 0.4163 0.3749 0.51 0.73 0.39 0.51 0.44 rs781853 COSM1383562 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4017 0.7514 0.4277 0.3489 0.2507 0.3742 0.3870 0.4190 0.3711 0.4855 0.7526 0.4570 0.3411 0.2562 0.4003 0.3858 0.3847 het 1726.34 178 17 3953083 . T C 1726.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.834;DP=178;DS;Dels=0.00;FS=6.607;HRun=1;HaplotypeScore=10.4412;MQ=59.47;MQ0=0;MQRankSum=-1.113;QD=9.70;ReadPosRankSum=-0.031;VQSLOD=3.0946;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,76:178:99:1756,0,2826 17 3953102 3953102 A G exonic ZZEF1 nonsynonymous SNV ZZEF1:NM_015113:exon37:c.T5915C:p.L1972P 0.47 0.82 0.41 0.25 0.4 0.37 0.4132 0.7784 0.4302 0.2575 0.3817 0.3853 0.4152 0.3777 0.52 0.76 0.39 0.52 0.44 rs781852 COSM1383563 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 0.217 0.191 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 1.000 0.207 P -0.69 0.019 N 2.1 0.200 T 1.51 0.007 N 0.38 0.440 -1.052 0.138 T 0.000 0.000 T . . . 1.479 0.240 13.20 0.635 0.071 0.001 0.005 N c -0.807 -0.667 0.040 0.144 0.707 0.730 0 5.46 0.799 2.637 0.460 0.099 0.198 0.070 0.219 0.038 0.155 11.891 0.517 . ENSG00000167740.5|ENSG00000185722.12 Artery_Tibial|Cells_Transformed_fibroblasts 0.4051 0.7841 0.4284 0.3491 0.2553 0.3758 0.3879 0.4215 0.3738 0.4949 0.7831 0.4570 0.3411 0.2596 0.4018 0.3865 0.3855 het 2023.54 163 17 3953102 . A G 2023.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.448;DP=163;DS;Dels=0.00;FS=6.195;HRun=2;HaplotypeScore=0.8667;MQ=59.32;MQ0=0;MQRankSum=-0.375;QD=12.41;ReadPosRankSum=-0.342;VQSLOD=5.5954;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,74:163:99:2054,0,2365 17 3966064 3966064 A G exonic ZZEF1 synonymous SNV ZZEF1:NM_015113:exon30:c.T4866C:p.C1622C 0.47 0.81 0.41 0.25 0.41 0.37 0.4989 0.7938 0.5478 0.3410 0.4602 0.4756 0.4972 0.4359 0.52 0.76 0.4 0.52 0.4 rs781825 COSM4130052 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4103 0.7830 0.4324 0.3681 0.2556 0.3784 0.3953 0.4281 0.3778 0.4966 0.7820 0.4570 0.3533 0.2599 0.4040 0.3896 0.3870 het 307.01 23 17 3966064 . A G 307.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.326;DP=23;Dels=0.00;FS=1.744;HRun=1;HaplotypeScore=0.9867;MQ=60.00;MQ0=0;MQRankSum=1.519;QD=13.35;ReadPosRankSum=-0.093;VQSLOD=6.3164;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,13:23:99:337,0,275 17 3981290 3981290 A G exonic ZZEF1 nonsynonymous SNV ZZEF1:NM_015113:exon19:c.T2876C:p.V959A 0.082 0.023 0.13 0.061 0.087 0.14 0.0882 0.0326 0.1714 0.0754 0.0789 0.0743 0.0969 0.1303 0.057 0.032 0.069 0.14 0.16 rs78806449 COSM4000165 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.075 0.344 T 0.005 0.260 B 0.024 0.277 B 0.000 0.473 D 0.000 0.520 P 1.375 0.344 L 2.02 0.211 T -0.96 0.255 N 0.078 0.069 -1.069 0.096 T 0.001 0.002 T . . . 1.818 0.279 15.09 0.991 0.528 0.972 0.732 D c -0.042 0.164 0.852 0.250 0.707 0.730 0 4.87 0.627 3.889 0.557 1.140 0.893 1.000 0.715 0.976 0.476 10.674 0.448 . ENSG00000167740.5 Cells_Transformed_fibroblasts 0.0906 0.0296 0.1629 0.0999 0.0779 0.0778 0.0713 0.0902 0.1256 0.0621 0.0287 0.1563 0.0894 0.0897 0.0925 0.0653 0.0695 het 823.81 89 17 3981290 . A G 823.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.332;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.32;MQ0=0;MQRankSum=0.810;QD=9.26;ReadPosRankSum=0.529;VQSLOD=6.4222;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,35:89:99:854,0,1428 17 4009040 4009040 G A exonic ZZEF1 synonymous SNV ZZEF1:NM_015113:exon7:c.C1341T:p.F447F 0.006 0.0008 0.01 . 0.02 0.002 0.0082 0.0021 0.0044 0 0.0048 0.0120 0.0099 0.0047 0.0082 0.002 0.011 0.022 0.041 rs143093880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0080 0.0020 0.0049 0.0096 0 0.0056 0.0122 0.0094 0.0043 0.0062 0.0019 0.0072 0.0066 0 0.0077 0.0089 0.0051 het 1667.67 169 17 4009040 . G A 1667.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DP=169;Dels=0.00;FS=3.014;HRun=3;HaplotypeScore=1.3302;MQ=59.59;MQ0=0;MQRankSum=-0.921;QD=9.87;ReadPosRankSum=-0.345;VQSLOD=4.5284;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,67:169:99:1698,0,2657 17 4015997 4015997 A G exonic ZZEF1 synonymous SNV ZZEF1:NM_015113:exon5:c.T972C:p.N324N 0.27 0.27 0.28 0.25 0.26 0.32 0.2642 0.2661 0.3422 0.2534 0.2675 0.2415 0.2805 0.3039 0.25 0.26 0.25 0.33 0.3 rs58625333 COSM3755549 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2659 0.2654 0.3288 0.2367 0.2516 0.2671 0.2420 0.2758 0.2987 0.2641 0.2824 0.3246 0.2417 0.2571 0.2948 0.2444 0.2597 het 1247.05 93 17 4015997 . A G 1247.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.117;DP=93;Dels=0.00;FS=3.943;HRun=0;HaplotypeScore=4.9086;MQ=59.40;MQ0=0;MQRankSum=1.679;QD=13.41;ReadPosRankSum=1.979;VQSLOD=4.1392;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,46:93:99:1277,0,1137 17 4088291 4088291 C T exonic ANKFY1 synonymous SNV ANKFY1:NM_001257999:exon12:c.G1647A:p.T549T,ANKFY1:NM_001330063:exon12:c.G1521A:p.T507T,ANKFY1:NM_016376:exon12:c.G1521A:p.T507T 0.77 0.47 0.83 0.95 0.91 0.82 0.8652 0.5037 0.8137 0.9398 0.9272 0.9196 0.8944 0.8314 0.79 0.53 0.92 0.65 0.83 rs2020118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8699 0.4986 0.8168 0.8865 0.9375 0.9286 0.9219 0.8860 0.8357 0.8031 0.5038 0.8138 0.8907 0.9296 0.9147 0.9282 0.9061 het 1239.22 89 17 4088291 . C T 1239.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.880;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3887;MQ=59.27;MQ0=0;MQRankSum=0.871;QD=13.92;ReadPosRankSum=0.361;VQSLOD=6.3959;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,45:89:99:1269,0,965 17 4337283 4337283 G A exonic SPNS3 synonymous SNV SPNS3:NM_182538:exon1:c.G21A:p.A7A 0.11 0.18 0.086 . 0.16 0.096 0.1584 0.1979 0.0687 0.0009 0.1579 0.1907 0.1471 0.1566 0.18 0.18 0.18 0.13 0.16 rs35751906 COSM436730 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1374 0.1785 0.0659 0.1520 0.0008 0.1383 0.1742 0.1449 0.1262 0.1575 0.1779 0.0907 0.1867 0.0019 0.1380 0.1709 0.1452 het 339.67 35 17 4337283 . G A 339.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.363;DP=35;Dels=0.00;FS=1.721;HRun=0;HaplotypeScore=2.6814;MQ=60.00;MQ0=0;MQRankSum=-1.259;QD=9.70;ReadPosRankSum=1.397;VQSLOD=5.0301;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:370,0,364 17 4337412 4337412 C G exonic SPNS3 synonymous SNV SPNS3:NM_182538:exon1:c.C150G:p.V50V 0.23 0.41 0.16 0.12 0.24 0.15 0.2266 0.3801 0.1025 0.1226 0.1838 0.2520 0.1920 0.1885 0.29 0.37 0.25 0.28 0.25 rs3809853 COSM4417351 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2152 0.3818 0.1093 0.2357 0.1163 0.1801 0.2516 0.2172 0.1912 0.2611 0.3729 0.1277 0.2384 0.1184 0.1758 0.2433 0.2014 het 1669.89 135 17 4337412 . C G 1669.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.419;DP=135;Dels=0.00;FS=3.151;HRun=0;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;MQRankSum=1.859;QD=12.37;ReadPosRankSum=0.673;VQSLOD=5.7568;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,63:135:99:1700,0,1868 17 4351560 4351560 G A exonic SPNS3 synonymous SNV SPNS3:NM_001320449:exon5:c.G351A:p.R117R,SPNS3:NM_182538:exon6:c.G732A:p.R244R 0.25 0.079 0.47 0.12 0.35 0.36 0.3636 0.1079 0.5415 0.1250 0.4925 0.3849 0.3627 0.3880 0.28 0.12 0.37 0.15 0.3 rs12450838 COSM5618934 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3658 0.1016 0.5120 0.3167 0.1196 0.4820 0.3766 0.3608 0.3773 0.3171 0.1115 0.4664 0.3245 0.1230 0.4705 0.4072 0.4151 het 629.90 53 17 4351560 . G A 629.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.059;DP=53;Dels=0.00;FS=2.528;HRun=1;HaplotypeScore=2.1232;MQ=59.65;MQ0=0;MQRankSum=0.987;QD=11.88;ReadPosRankSum=1.788;VQSLOD=6.1415;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,26:53:99:660,0,701 17 4352539 4352539 C T exonic SPNS3 synonymous SNV SPNS3:NM_001320449:exon6:c.C399T:p.F133F,SPNS3:NM_182538:exon7:c.C780T:p.F260F 0.48 0.44 0.67 0.16 0.7 0.52 0.6349 0.4645 0.7026 0.1573 0.7493 0.7196 0.6611 0.5542 0.63 0.46 0.72 0.47 0.66 rs7224464 COSM3755592 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6379 0.4550 0.6954 0.6785 0.1544 0.7463 0.7176 0.6691 0.5561 0.6204 0.4637 0.6611 0.7086 0.1586 0.7313 0.7283 0.6749 het 2420.10 172 17 4352539 . C T 2420.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.199;DP=172;Dels=0.00;FS=4.531;HRun=3;HaplotypeScore=3.3832;MQ=58.90;MQ0=0;MQRankSum=0.028;QD=14.07;ReadPosRankSum=1.238;VQSLOD=5.1129;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,89:172:99:2450,0,1976 17 4352636 4352636 G A exonic SPNS3 nonsynonymous SNV SPNS3:NM_001320449:exon6:c.G496A:p.G166R,SPNS3:NM_182538:exon7:c.G877A:p.G293R 0.096 0.016 0.11 0.069 0.14 0.18 0.1226 0.0309 0.1198 0.0623 0.1347 0.1277 0.1411 0.1864 0.093 0.034 0.12 0.098 0.17 rs34457931 COSM3755593 1(large_intestine) . . . . . . . . . . . 0.004 0.654 D 0.987 0.600 D 0.629 0.499 P 0.000 0.843 D 0.188 0.346 P 1.895 0.505 L -0.58 0.714 T -2.88 0.605 D 0.255 0.326 -0.966 0.380 T 0.004 0.012 T . . . 2.726 0.389 21.0 0.996 0.740 0.930 0.568 D c 0.158 0.090 0.003 0.098 0.497 0.185 0 2.94 0.330 3.035 0.492 0.939 0.529 1.000 0.715 0.307 0.238 5.894 0.181 Major facilitator superfamily domain . . 0.1226 0.0279 0.1175 0.1225 0.0611 0.1351 0.1272 0.1262 0.1838 0.0964 0.0343 0.1181 0.1192 0.0611 0.1465 0.1203 0.1378 het 1124.16 83 17 4352636 . G A 1124.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.088;DP=83;Dels=0.00;FS=0.982;HRun=0;HaplotypeScore=0.9967;MQ=60.00;MQ0=0;MQRankSum=1.076;QD=13.54;ReadPosRankSum=2.040;VQSLOD=5.0059;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,42:83:99:1154,0,1187 17 4356375 4356375 G T exonic SPNS3 nonsynonymous SNV SPNS3:NM_001320449:exon7:c.G607T:p.A203S,SPNS3:NM_182538:exon8:c.G988T:p.A330S 0.24 0.044 0.46 0.11 0.35 0.4 0.3508 0.0804 0.5349 0.1137 0.4631 0.3701 0.3513 0.3934 0.27 0.089 0.36 0.14 0.28 rs11655342 COSM4130165 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.002 0.131 B 0.009 0.208 B 0.032 0.251 N 1 0.090 P -0.265 0.038 N 0.46 0.563 T 0.67 0.023 N 0.046 0.029 -0.977 0.356 T 0.000 0.000 T . . . -1.201 0.025 0.007 0.183 0.006 0.017 0.054 N c -1.252 -1.211 0.001 0.078 0.516 0.203 0 -1.19 0.090 0.479 0.218 -1.568 0.009 0.086 0.223 0.012 0.117 8.790 0.338 Major facilitator superfamily domain . . 0.3586 0.0752 0.5117 0.3134 0.1132 0.4589 0.3647 0.3515 0.3909 0.2963 0.0842 0.4499 0.3212 0.1119 0.4417 0.3910 0.3863 het 2332.59 192 17 4356375 . G T 2332.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.884;DP=192;Dels=0.00;FS=1.848;HRun=1;HaplotypeScore=6.3842;MQ=58.92;MQ0=0;MQRankSum=-0.865;QD=12.15;ReadPosRankSum=0.871;VQSLOD=4.7057;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,91:192:99:2363,0,2911 17 4391132 4391132 C T exonic SPNS3 synonymous SNV SPNS3:NM_001320449:exon11:c.C1101T:p.N367N,SPNS3:NM_182538:exon12:c.C1482T:p.N494N 0.15 0.057 0.17 0.044 0.32 0.22 0.2388 0.0861 0.1284 0.0558 0.2703 0.3013 0.2412 0.2434 0.23 0.091 0.3 0.12 0.3 rs2291743 COSM148156 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2345 0.0839 0.1388 0.2874 0.0526 0.2625 0.2983 0.2579 0.2436 0.2105 0.0920 0.1623 0.3079 0.0482 0.2736 0.2811 0.2418 het 2758.80 209 17 4391132 . C T 2758.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.962;DP=209;DS;Dels=0.00;FS=7.057;HRun=0;HaplotypeScore=6.1119;MQ=58.40;MQ0=0;MQRankSum=0.019;QD=13.20;ReadPosRankSum=-1.267;VQSLOD=4.0597;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:102,107:209:99:2789,0,2557 17 4391153 4391153 A G exonic SPNS3 synonymous SNV SPNS3:NM_001320449:exon11:c.A1122G:p.L374L,SPNS3:NM_182538:exon12:c.A1503G:p.L501L 0.17 0.13 0.17 0.045 0.32 0.22 0.2418 0.1427 0.1299 0.0559 0.2688 0.2977 0.2412 0.2436 0.24 0.14 0.29 0.12 0.3 rs333122 COSM148157 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2364 0.1427 0.1419 0.2872 0.0529 0.2611 0.2935 0.2590 0.2442 0.2244 0.1499 0.1706 0.3079 0.0481 0.2685 0.2767 0.2413 het 1999.85 167 17 4391153 . A G 1999.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.942;DP=167;DS;Dels=0.00;FS=5.037;HRun=0;HaplotypeScore=5.6199;MQ=59.02;MQ0=0;MQRankSum=-2.120;QD=11.98;ReadPosRankSum=0.447;VQSLOD=3.7035;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,75:167:99:2030,0,2321 17 4446457 4446457 G A exonic MYBBP1A synonymous SNV MYBBP1A:NM_001105538:exon20:c.C2643T:p.H881H,MYBBP1A:NM_014520:exon20:c.C2643T:p.H881H 0.23 0.023 0.21 0.55 0.16 0.29 0.2060 0.0494 0.2151 0.5512 0.2228 0.1595 0.2283 0.2722 0.12 0.047 0.16 0.22 0.066 rs751670 COSM4782636;COSM3749404 1(liver);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2005 0.0427 0.2110 0.1299 0.5430 0.2056 0.1552 0.1814 0.2481 0.1499 0.0472 0.2242 0.1333 0.5460 0.1932 0.1522 0.1663 het 324.85 29 17 4446457 . G A 324.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.534;DP=29;Dels=0.00;FS=2.231;HRun=0;HaplotypeScore=1.4105;MQ=59.20;MQ0=0;MQRankSum=-0.138;QD=11.20;ReadPosRankSum=-0.046;VQSLOD=6.4873;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,13:29:99:355,0,443 17 4455500 4455500 T C exonic MYBBP1A synonymous SNV MYBBP1A:NM_001105538:exon7:c.A825G:p.A275A,MYBBP1A:NM_014520:exon7:c.A825G:p.A275A 0.99 0.97 1. 1. 1. 1. 0.9977 0.9751 0.9993 1 1 0.9999 0.9989 1 0.99 0.97 1. 0.97 0.98 rs7206974 COSM4130175;COSM4909353 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9982 0.9744 0.9991 1 1 0.9999 0.9999 0.9993 1 0.9914 0.9704 1 1 1 1 0.9997 0.9969 hom 3066.92 99 17 4455500 . T C 3066.92 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9203;MQ=59.34;MQ0=0;QD=30.98;VQSLOD=8.9803;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:99:99:3100,259,0 17 4457116 4457116 T C exonic MYBBP1A nonsynonymous SNV MYBBP1A:NM_001105538:exon5:c.A550G:p.I184V,MYBBP1A:NM_014520:exon5:c.A550G:p.I184V 0.019 0.044 0.02 0.001 0.02 0.002 0.0167 0.0521 0.0158 0.0003 0.0022 0.0173 0.0136 0.0072 0.029 0.055 0.016 0.011 0.016 rs78557985 COSM4785177;COSM3755600 1(large_intestine) . . . . . . . . . . . 0.225 0.186 T 0.012 0.151 B 0.057 0.248 B 0.000 0.843 N 0.782 0.293 N 2.89 0.840 M -0.28 0.676 T -0.77 0.214 N 0.067 0.176 -0.945 0.418 T 0.052 0.223 T . . . 0.087 0.102 3.475 0.547 0.051 0.948 0.620 D c -0.650 -0.547 1.000 0.500 0.646 0.442 0 3.52 0.393 3.326 0.515 -0.210 0.100 1.000 0.715 0.291 0.235 10.069 0.413 Armadillo-type fold . . 0.0159 0.0512 0.0158 0.0354 0.0002 0.0014 0.0169 0.0204 0.0070 0.0226 0.0551 0.0179 0.0397 0 0.0009 0.0121 0.0092 het 394.90 51 17 4457116 . T C 394.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.700;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;MQRankSum=0.286;QD=7.74;ReadPosRankSum=0.956;VQSLOD=5.7012;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,18:51:99:425,0,847 17 4461748 4461748 G A exonic GGT6 stopgain GGT6:NM_001288704:exon3:c.C358T:p.R120X,GGT6:NM_001288703:exon4:c.C454T:p.R152X 0.5 0.38 0.37 0.74 0.4 0.6 0.4423 0.3806 0.3199 0.7120 0.3717 0.4094 0.4720 0.5673 0.38 0.37 0.39 0.39 0.28 rs7215121 COSM3755601;COSM3755602 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.204 P . . . . . . . . . . . . . . . . . . . . -0.329 0.066 0.570 0.818 0.134 0.004 0.019 N n -0.405 0.471 1.000 0.747 0.497 0.185 0 -9.71 0.004 -1.981 0.016 -3.477 0.001 0.000 0.063 0.000 0.016 5.316 0.151 . ENSG00000132382.10 Artery_Tibial 0.4242 0.3580 0.3091 0.4516 0.7042 0.3390 0.3964 0.4177 0.5654 0.3833 0.3567 0.3067 0.4636 0.7110 0.3340 0.3783 0.3730 het 569.48 37 17 4461748 . G A 569.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.142;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=-0.349;QD=15.39;ReadPosRankSum=0.015;VQSLOD=6.2811;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,19:37:99:599,0,534 17 4463023 4463023 G A exonic GGT6 nonsynonymous SNV GGT6:NM_001122890:exon2:c.C173T:p.A58V,GGT6:NM_001288702:exon2:c.C173T:p.A58V,GGT6:NM_001288703:exon2:c.C173T:p.A58V,GGT6:NM_001288704:exon2:c.C173T:p.A58V,GGT6:NM_153338:exon2:c.C173T:p.A58V 0.76 0.64 0.79 0.89 0.77 0.74 0.7666 0.6699 0.8017 0.9147 0.7956 0.7597 0.7717 0.7377 0.74 0.69 0.77 0.72 0.7 rs11657054 . . . . . . . . . . . . . 0.007 0.599 D 0.437 0.454 B 0.14 0.444 B 0.282 0.149 N 0.993 0.588 P 2.24 0.636 M 1.45 0.389 T -1.43 0.352 N 0.06 0.103 -1.097 0.044 T 0.000 0.000 T . . . 3.074 0.429 22.5 0.999 0.941 0.667 0.329 D c 0.074 0.068 1.000 0.500 0.497 0.185 0 4.29 0.502 3.006 0.490 0.143 0.228 0.890 0.310 0.066 0.174 10.022 0.410 . ENSG00000132382.10|ENSG00000132382.10|ENSG00000167741.6|ENSG00000132382.10|ENSG00000132382.10|ENSG00000167741.6|ENSG00000132382.10 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Thyroid 0.7695 0.6691 0.8024 0.7761 0.9144 0.7896 0.7565 0.7661 0.7318 0.7526 0.6646 0.8162 0.7517 0.9205 0.7975 0.7690 0.7914 hom 1053.79 37 17 4463023 . G A 1053.79 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=28.48;VQSLOD=8.3407;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:93.26:1087,93,0 17 4495740 4495740 G A exonic SMTNL2 nonsynonymous SNV SMTNL2:NM_001114974:exon2:c.G484A:p.A162T,SMTNL2:NM_198501:exon2:c.G52A:p.A18T 0.33 0.11 0.45 0.58 0.31 0.32 0.3378 0.1266 0.5310 0.6049 0.3268 0.3035 0.3422 0.3364 0.25 0.13 0.3 0.3 0.21 rs12449695 COSM3755608;COSM3755607 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.149 0.247 T 0.038 0.196 B 0.006 0.112 B . . . 1.000 0.189 P 1.995 0.543 M -1.51 0.814 D -0.53 0.253 N 0.094 0.249 -0.934 0.436 T 0.000 0.000 T . . . 0.610 0.152 8.222 0.981 0.380 0.090 0.146 N c -0.845 -0.864 0.003 0.100 0.646 0.450 0 -1.36 0.086 0.725 0.255 0.953 0.551 0.582 0.274 0.684 0.306 1.038 0.014 . ENSG00000188176.7|ENSG00000188176.7 Adipose_Subcutaneous|Nerve_Tibial 0.3493 0.1248 0.5285 0.3456 0.6044 0.3255 0.2994 0.3223 0.3267 0.2800 0.1292 0.4964 0.3367 0.5861 0.3203 0.3098 0.3189 hom 3309.96 110 17 4495740 . G A 3309.96 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6399;MQ=59.15;MQ0=0;QD=30.09;VQSLOD=8.7847;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:110:99:3284,271,0 17 4497160 4497160 T C exonic SMTNL2 synonymous SNV SMTNL2:NM_001114974:exon4:c.T774C:p.Y258Y,SMTNL2:NM_198501:exon4:c.T342C:p.Y114Y 0.68 0.53 0.77 0.85 0.64 0.7 0.6834 0.5397 0.8321 0.8744 0.6749 0.6520 0.6656 0.7004 0.62 0.55 0.65 0.75 0.71 rs8080130 COSM3766106;COSM3766107 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6911 0.5345 0.8229 0.6483 0.8743 0.6673 0.6524 0.6798 0.6956 0.6422 0.5348 0.7986 0.6755 0.8717 0.6542 0.6648 0.6867 hom 4328.01 143 17 4497160 . T C 4328.01 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.43;MQ0=0;QD=30.27;VQSLOD=8.8509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4327,343,0 17 4575283 4575283 A G exonic PELP1 synonymous SNV PELP1:NM_014389:exon16:c.T3153C:p.P1051P 0.84 0.55 0.9 1. 0.94 0.93 0.9229 0.6095 0.9549 0.9989 0.9645 0.9431 0.9017 0.9417 0.84 0.62 0.94 0.85 . rs3862485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9216 0.5863 0.9442 0.8870 0.9988 0.9614 0.9430 0.9142 0.9449 0.8558 0.6124 0.9248 0.9139 0.9988 0.9529 0.9492 0.9337 hom 343.96 13 17 4575283 . A G 343.96 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.07;MQ0=0;QD=26.46;VQSLOD=7.3778;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:30.09:377,30,0 17 4622638 4622638 C T exonic ARRB2 synonymous SNV ARRB2:NM_001330064:exon9:c.C264T:p.S88S,ARRB2:NM_001257331:exon10:c.C795T:p.S265S,ARRB2:NM_199004:exon10:c.C795T:p.S265S,ARRB2:NM_001257328:exon11:c.C903T:p.S301S,ARRB2:NM_001257330:exon11:c.C840T:p.S280S,ARRB2:NM_004313:exon11:c.C840T:p.S280S 0.67 0.4 0.72 0.83 0.69 0.81 0.7048 0.4363 0.7767 0.8100 0.7751 0.6911 0.7181 0.7946 0.6 0.45 0.68 0.62 0.61 rs1045280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7111 0.4313 0.7635 0.6801 0.8103 0.7715 0.6868 0.6840 0.7963 0.6399 0.4387 0.7326 0.6921 0.7960 0.7524 0.7023 0.7173 het 1680.47 145 17 4622638 . C T 1680.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.051;DP=145;Dels=0.00;FS=0.634;HRun=0;HaplotypeScore=6.1407;MQ=59.26;MQ0=0;MQRankSum=1.289;QD=11.59;ReadPosRankSum=-0.152;VQSLOD=5.0705;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,69:145:99:1710,0,1873 17 4638484 4638484 T C exonic CXCL16 synonymous SNV CXCL16:NM_001100812:exon4:c.A678G:p.P226P,CXCL16:NM_022059:exon4:c.A678G:p.P226P 0.53 0.36 0.58 0.59 0.58 0.62 0.5576 0.3802 0.6134 0.5873 0.5329 0.5577 0.6051 0.6220 0.51 0.39 0.57 0.52 0.48 rs1876444 COSM148159 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5637 0.3779 0.6060 0.6478 0.5840 0.5386 0.5541 0.5795 0.6217 0.5077 0.3799 0.5943 0.6358 0.5928 0.5410 0.5542 0.5614 hom 1523.46 52 17 4638484 . T C 1523.46 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.30;VQSLOD=13.5137;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1556,126,0 17 4638563 4638563 G A exonic CXCL16 nonsynonymous SNV CXCL16:NM_001100812:exon4:c.C599T:p.A200V,CXCL16:NM_022059:exon4:c.C599T:p.A200V 0.46 0.3 0.48 0.58 0.44 0.57 0.4612 0.3050 0.5584 0.5830 0.4509 0.4297 0.5078 0.5567 0.39 0.31 0.44 0.45 0.32 rs2277680 COSM4985327;COSM4985326 10(soft_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.004 0.093 B 0.642 0.059 N 1 0.090 P -0.06 0.049 N 1.22 0.370 T -1.05 0.275 N 0.023 0.006 -0.928 0.445 T 0.000 0.000 T . . . -0.767 0.042 0.051 0.512 0.044 0.043 0.097 N c -1.617 -1.604 1.000 0.443 0.660 0.495 0 -2.64 0.057 -0.655 0.054 -0.953 0.024 0.000 0.063 0.000 0.016 13.311 0.597 . ENSG00000161921.10|ENSG00000161921.10|ENSG00000141497.9|ENSG00000161921.10|ENSG00000161921.10|ENSG00000161921.10|ENSG00000141497.9|ENSG00000161921.10|ENSG00000161921.10|ENSG00000141497.9|ENSG00000161921.10|ENSG00000141497.9 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4675 0.3029 0.5462 0.4643 0.5808 0.4529 0.4275 0.4728 0.5554 0.4072 0.3019 0.5167 0.4272 0.5863 0.4518 0.4294 0.4508 het 676.94 41 17 4638563 . G A 676.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.504;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=0.636;QD=16.51;ReadPosRankSum=-0.149;VQSLOD=6.7332;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,26:41:99:707,0,415 17 4638737 4638737 A G exonic CXCL16 nonsynonymous SNV CXCL16:NM_001100812:exon4:c.T425C:p.I142T,CXCL16:NM_022059:exon4:c.T425C:p.I142T 0.46 0.3 0.48 0.59 0.44 0.57 0.4574 0.3088 0.5585 0.5876 0.4482 0.4299 0.5077 0.5674 0.39 0.31 0.44 0.45 0.33 rs1050998 COSM148160;COSM3766114 1(stomach);1(liver) . . . . . . . . . . . 0.446 0.091 T 0.002 0.090 B 0.003 0.080 B 0.182 0.032 N 1 0.090 P 0.145 0.088 N 1.22 0.546 T -0.63 0.185 N 0.013 0.251 -0.994 0.317 T 0.000 0.000 T . . . -2.931 0.001 0.001 0.495 0.042 0.011 0.041 N c -2.026 -2.099 1.000 0.747 0.615 0.372 0 -10.8 0.002 -0.517 0.063 -1.215 0.015 0.000 0.063 0.000 0.016 11.758 0.510 . ENSG00000161921.10|ENSG00000161921.10|ENSG00000141497.9|ENSG00000161921.10|ENSG00000161921.10|ENSG00000161921.10|ENSG00000141497.9|ENSG00000161921.10|ENSG00000161921.10|ENSG00000141497.9|ENSG00000161921.10|ENSG00000141497.9 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4622 0.3031 0.5488 0.4614 0.5886 0.4518 0.4269 0.4773 0.5643 0.4069 0.3014 0.5169 0.4272 0.5910 0.4510 0.4287 0.4551 het 812.47 55 17 4638737 . A G 812.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.548;DP=55;Dels=0.00;FS=7.653;HRun=0;HaplotypeScore=0.9967;MQ=60.00;MQ0=0;MQRankSum=0.042;QD=14.77;ReadPosRankSum=-0.177;VQSLOD=4.8926;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,29:55:99:842,0,702 17 4641755 4641755 C T exonic CXCL16 synonymous SNV CXCL16:NM_001100812:exon3:c.G306A:p.G102G,CXCL16:NM_022059:exon3:c.G306A:p.G102G 0.62 0.38 0.68 0.69 0.79 0.66 0.7082 0.4403 0.6800 0.6892 0.7094 0.7637 0.7423 0.6801 0.67 0.46 0.77 0.61 0.72 rs1050997 COSM4130339;COSM148161 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7149 0.4385 0.6867 0.7827 0.6909 0.7133 0.7681 0.7384 0.6788 0.6643 0.4538 0.6850 0.7767 0.6945 0.7192 0.7630 0.7249 hom 1773.01 65 17 4641755 . C T 1773.01 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.28;VQSLOD=13.1186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1806,138,0 17 4645324 4645324 T C exonic ZMYND15 synonymous SNV ZMYND15:NM_001136046:exon4:c.T942C:p.H314H,ZMYND15:NM_001267822:exon4:c.T942C:p.H314H,ZMYND15:NM_032265:exon4:c.T942C:p.H314H 0.26 0.041 0.33 0.14 0.46 0.4 0.3601 0.0966 0.2215 0.1183 0.3999 0.4385 0.4152 0.4131 0.34 0.11 0.45 0.25 0.36 rs3826517 COSM3766115;COSM3766116 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3620 0.0923 0.2356 0.4978 0.1126 0.4034 0.4402 0.3912 0.4115 0.3216 0.1013 0.2811 0.4636 0.1160 0.4121 0.4469 0.3753 hom 5910.77 201 17 4645324 . T C 5910.77 Mask AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7563;MQ=59.12;MQ0=0;QD=29.41;VQSLOD=7.4767;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,200:201:99:5878,484,0 17 4684095 4684095 G A exonic TM4SF5 synonymous SNV TM4SF5:NM_003963:exon2:c.G189A:p.P63P 0.33 0.17 0.43 0.19 0.51 0.42 0.4372 0.2314 0.3808 0.1901 0.3902 0.5130 0.4516 0.4448 0.42 0.24 0.52 0.29 0.39 rs13520 COSM3755625 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4335 0.2237 0.3850 0.5412 0.1823 0.3677 0.5167 0.4483 0.4400 0.3917 0.2254 0.4187 0.5533 0.2133 0.3700 0.5061 0.4211 hom 1038.54 33 17 4684095 . G A 1038.54 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;QD=31.47;VQSLOD=8.7535;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:84.26:1072,84,0 17 4689572 4689572 T C exonic VMO1 nonsynonymous SNV VMO1:NM_001144939:exon1:c.A76G:p.T26A,VMO1:NM_001144940:exon1:c.A76G:p.T26A,VMO1:NM_001144941:exon1:c.A76G:p.T26A,VMO1:NM_182566:exon1:c.A76G:p.T26A 0.53 0.41 0.5 0.55 0.53 0.71 0.5720 0.4497 0.6111 0.5387 0.5955 0.5541 0.5957 0.6957 0.5 0.45 0.53 0.45 0.44 rs4790706 COSM4966683;COSM4966682 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 1.0 0.024 T 0.0 0.026 B 0.0 0.013 B 0.170 0.031 N 1 0.090 P -0.895 0.014 N 1.33 0.350 T 0.54 0.057 N 0.015 0.002 -0.946 0.416 T 0.000 0.000 T . . . -2.520 0.003 0.001 0.402 0.028 0.003 0.017 N c -1.704 -1.670 1.000 0.747 0.598 0.340 0 -3.6 0.043 0.204 0.170 -0.874 0.028 0.000 0.063 0.000 0.016 1.436 0.022 . ENSG00000182853.7 Skin_Sun_Exposed_Lower_leg 0.5633 0.4349 0.5847 0.5827 0.5388 0.5736 0.5384 0.5570 0.6940 0.5171 0.4422 0.5586 0.5497 0.5464 0.5706 0.5387 0.5685 het 350.69 32 17 4689572 . T C 350.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.652;DP=32;Dels=0.00;FS=3.743;HRun=1;HaplotypeScore=2.9835;MQ=59.42;MQ0=0;MQRankSum=1.070;QD=10.96;ReadPosRankSum=0.214;VQSLOD=6.1207;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:381,0,543 17 4693054 4693054 G A exonic GLTPD2 synonymous SNV GLTPD2:NM_001014985:exon4:c.G339A:p.E113E 0.51 0.76 0.52 0.45 0.47 0.28 0.4717 0.7249 0.4296 0.4919 0.4429 0.4799 0.4492 0.3093 0.55 0.7 0.48 0.63 0.45 rs12951761 COSM3755630 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4497 0.7158 0.4260 0.4148 0.4593 0.4253 0.4700 0.4540 0.2950 0.5286 0.7118 0.4391 0.4470 0.4465 0.4244 0.4672 0.4426 het 441.72 31 17 4693054 . G A 441.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.966;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=57.02;MQ0=1;MQRankSum=-0.876;QD=14.25;ReadPosRankSum=0.202;VQSLOD=4.9993;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,19:31:99:472,0,291 17 4693170 4693170 T C exonic GLTPD2 nonsynonymous SNV GLTPD2:NM_001014985:exon4:c.T455C:p.V152A 0.99 0.96 1. 1. 1. 1. 0.9977 0.9724 0.9983 1 1 1.0000 1 1 0.99 0.97 1. 0.63 0.52 rs34850425 COSM3755631 2(thyroid);1(large_intestine) . . . . . . . . . . . 0.965 0.021 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.98 0.012 N . . . 1.54 0.007 N 0.021 0.005 -1.024 0.223 T 0.000 0.000 T . . . -1.566 0.015 0.002 0.511 0.044 0.002 0.014 N c -1.884 -1.830 1.000 0.747 0.437 0.062 0 -1.06 0.094 -0.672 0.053 -1.759 0.007 0.000 0.063 0.010 0.111 5.055 0.138 Glycolipid transfer protein domain . . 0.9982 0.9724 0.9984 1 1 1 0.9999 0.9985 1.0000 0.9937 0.9781 0.9952 1 1 1 1 0.9990 hom 321.55 15 17 4693170 . T C 321.55 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;QD=21.44;VQSLOD=6.2234;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:33.07:355,33,0 17 4699552 4699552 G A exonic PSMB6 synonymous SNV PSMB6:NM_001270481:exon1:c.G63A:p.A21A,PSMB6:NM_002798:exon1:c.G63A:p.A21A 0.27 0.24 0.41 0.098 0.41 0.24 0.4654 0.3503 0.5600 0.1756 0.4956 0.54 0.4433 0.3202 0.39 0.31 0.44 0.3 0.16 rs3169950 COSM3755632 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3758 0.2824 0.4178 0.3835 0.1002 0.3404 0.4555 0.3821 0.2789 0.3737 0.3049 0.4010 0.4106 0.1012 0.3514 0.4453 0.3858 het 46.46 12 17 4699552 . G A 46.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.600;DP=12;Dels=0.00;FS=6.264;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.825;QD=3.87;ReadPosRankSum=-0.289;VQSLOD=2.2971;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,4:12:76.46:76,0,224 17 4718776 4718776 G A exonic PLD2 synonymous SNV PLD2:NM_001243108:exon13:c.G1179A:p.E393E,PLD2:NM_002663:exon13:c.G1179A:p.E393E 0.63 0.39 0.74 0.63 0.7 0.77 0.7128 0.4398 0.8133 0.6205 0.7041 0.7345 0.7004 0.7793 0.63 0.45 0.72 0.66 0.68 rs1132448 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7163 0.4390 0.7991 0.6545 0.6131 0.7092 0.7357 0.6971 0.7798 0.6411 0.4496 0.7650 0.7020 0.6030 0.7041 0.7284 0.7168 hom 8174.92 250 17 4718776 . G A 8174.92 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5914;MQ=59.42;MQ0=0;QD=32.70;VQSLOD=7.9522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8174,647,0 17 4720469 4720469 C T exonic PLD2 nonsynonymous SNV PLD2:NM_001243108:exon17:c.C1730T:p.T577I,PLD2:NM_002663:exon17:c.C1730T:p.T577I 0.25 0.11 0.41 0.11 0.44 0.28 0.3925 0.1523 0.4214 0.1051 0.3630 0.4871 0.3789 0.3039 0.37 0.17 0.48 0.25 0.43 rs1052748 COSM4130355;COSM4130356 2(pancreas);1(thyroid) . . . . . . . . . . . 0.246 0.173 T 0.001 0.067 B 0.001 0.063 B 0.424 0.047 N 1 0.090 P 0.75 0.191 N 2.01 0.213 T -2.08 0.475 N 0.058 0.314 -0.964 0.385 T 0.000 0.000 T . . . -1.645 0.014 0.002 0.430 0.032 0.005 0.022 N c -1.878 -1.973 0.479 0.208 0.706 0.609 0 -8.96 0.007 -1.476 0.024 -1.036 0.021 0.000 0.063 0.003 0.074 5.764 0.174 . ENSG00000262165.1|ENSG00000108515.13|ENSG00000129219.9|ENSG00000129219.9|ENSG00000129219.9|ENSG00000129219.9|ENSG00000129219.9|ENSG00000129219.9|ENSG00000129219.9|ENSG00000262165.1|ENSG00000129219.9|ENSG00000262165.1|ENSG00000129219.9|ENSG00000129219.9 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.3937 0.1446 0.4172 0.4205 0.1055 0.3662 0.4916 0.3999 0.3087 0.3535 0.1553 0.4029 0.4433 0.1125 0.3711 0.4821 0.4150 het 2967.85 249 17 4720469 . C T 2967.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.588;DP=249;DS;Dels=0.00;FS=8.040;HRun=0;HaplotypeScore=9.7202;MQ=59.08;MQ0=0;MQRankSum=2.053;QD=11.92;ReadPosRankSum=-1.432;VQSLOD=3.1762;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,113:249:99:2998,0,4081 17 4722785 4722785 G A exonic PLD2 synonymous SNV PLD2:NM_001243108:exon23:c.G2370A:p.L790L,PLD2:NM_002663:exon23:c.G2370A:p.L790L 0.12 0.13 0.17 0.043 0.18 0.09 0.1426 0.1254 0.1497 0.0406 0.1679 0.1662 0.1558 0.0965 0.15 0.12 0.17 0.22 0.17 rs1052751 COSM3755636;COSM3755635 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1436 0.1227 0.1442 0.1565 0.0393 0.1651 0.1694 0.1522 0.0968 0.1446 0.1144 0.1563 0.1567 0.0309 0.1640 0.1683 0.1561 het 665.04 54 17 4722785 . G A 665.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.143;DP=54;Dels=0.00;FS=1.142;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.739;QD=12.32;ReadPosRankSum=-0.882;VQSLOD=6.2673;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,25:54:99:695,0,813 17 4722876 4722876 G A exonic PLD2 nonsynonymous SNV PLD2:NM_002663:exon23:c.G2461A:p.G821S 0.18 0.3 0.17 0.11 0.17 0.13 0.1598 0.2878 0.1513 0.0950 0.1360 0.1535 0.1647 0.1519 0.2 0.27 0.16 0.22 0.17 rs3764897 COSM3755638;COSM3755637 2(large_intestine) . . . . . . . . . . . 0.808 0.030 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.810 P -2.045 0.002 N 3.34 0.061 T 1.05 0.013 N 0.059 0.423 -0.955 0.401 T 0.000 0.000 T . . . 2.528 0.365 19.65 0.972 0.325 0.044 0.099 N c -0.892 -0.629 0.000 0.061 0.732 0.924 0 3.82 0.430 4.116 0.574 0.092 0.196 1.000 0.715 0.981 0.494 7.585 0.270 . . . 0.1526 0.2865 0.1458 0.1410 0.0957 0.1301 0.1546 0.1551 0.1362 0.1782 0.2760 0.1770 0.1291 0.0893 0.1239 0.1478 0.1293 het 567.94 48 17 4722876 . G A 567.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DP=48;Dels=0.00;FS=4.576;HRun=0;HaplotypeScore=0.9933;MQ=57.94;MQ0=0;MQRankSum=-1.307;QD=11.83;ReadPosRankSum=-0.491;VQSLOD=4.5205;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,20:48:99:598,0,792 17 4856376 4856376 A G exonic ENO3 nonsynonymous SNV ENO3:NM_001976:exon4:c.A212G:p.N71S,ENO3:NM_053013:exon4:c.A212G:p.N71S 0.56 0.55 0.78 0.4 0.68 0.48 0.6493 0.5839 0.7516 0.3875 0.6082 0.7139 0.6663 0.5100 0.67 0.6 0.7 0.63 0.65 rs238238 COSM4415774 1(haematopoietic_and_lymphoid_tissue) Benign|Benign Glycogen_Storage_Disease_Type_XIII|not_specified RCV000391776.1|RCV000438689.1 MedGen|MedGen CN239379|CN169374 . . . . . . 0.375 0.114 T 0.0 0.026 B 0.001 0.040 B . . . 0.979 0.810 P 0.095 0.085 N 1.57 0.293 T -0.58 0.174 N 0.074 0.064 -1.022 0.230 T 0.000 0.000 T . . . 1.487 0.241 13.24 0.975 0.337 0.893 0.494 D c -0.025 0.151 1.000 0.747 0.732 0.924 0 5.4 0.779 3.750 0.546 1.199 0.960 1.000 0.715 0.997 0.653 13.651 0.616 Enolase N-terminal domain-like|Enolase\x2c N-terminal ENSG00000091640.3|ENSG00000108515.13|ENSG00000108515.13|ENSG00000091640.3|ENSG00000132517.10|ENSG00000091640.3|ENSG00000091640.3|ENSG00000108509.16|ENSG00000091640.3|ENSG00000108515.13|ENSG00000132517.10|ENSG00000091640.3|ENSG00000129250.7|ENSG00000108515.13 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.6496 0.5829 0.7433 0.7219 0.3831 0.6097 0.7100 0.6833 0.5099 0.6421 0.5874 0.7422 0.7351 0.3903 0.6129 0.7010 0.6335 hom 3189.96 109 17 4856376 . A G 3189.96 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58.40;MQ0=0;QD=29.27;VQSLOD=7.9533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3223,244,0 17 4856580 4856580 T C exonic ENO3 nonsynonymous SNV ENO3:NM_001976:exon5:c.T254C:p.V85A,ENO3:NM_053013:exon5:c.T254C:p.V85A 0.3 0.14 0.45 0.15 0.54 0.32 0.4606 0.2066 0.4552 0.1489 0.4685 0.5659 0.4967 0.3565 0.45 0.23 0.56 0.34 0.49 rs238239 COSM3736167 1(kidney);1(skin) Benign|Benign Glycogen_Storage_Disease_Type_XIII|not_specified RCV000361105.1|RCV000417989.1 MedGen|MedGen CN239379|CN169374 . . . . . . 0.107 0.295 T 0.0 0.026 B 0.019 0.176 B . . . 0.001 0.810 P 0.955 0.240 L 1.57 0.293 T -0.75 0.210 N 0.178 0.283 -0.951 0.408 T 0.000 0.000 T . . . 3.152 0.438 22.6 0.993 0.580 0.917 0.539 D c -0.049 0.104 1.000 0.747 0.732 0.924 0 4.42 0.526 5.038 0.637 1.061 0.807 1.000 0.715 1.000 0.888 11.268 0.482 Enolase N-terminal domain-like|Enolase\x2c N-terminal ENSG00000262165.1|ENSG00000108515.13|ENSG00000185245.6|ENSG00000108515.13|ENSG00000108515.13|ENSG00000108515.13|ENSG00000262165.1|ENSG00000185245.6|ENSG00000108515.13|ENSG00000185245.6|ENSG00000196388.4|ENSG00000108515.13|ENSG00000262429.1|ENSG00000234203.1|ENSG00000108509.16 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Nerve_Tibial|Nerve_Tibial|Whole_Blood|Whole_Blood|Whole_Blood 0.4620 0.1987 0.4519 0.5392 0.1529 0.4700 0.5692 0.4734 0.3552 0.4301 0.2090 0.4725 0.5530 0.1648 0.4777 0.5681 0.4867 hom 7178.65 235 17 4856580 . T C 7178.65 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.393;DP=235;DS;Dels=0.00;FS=3.164;HRun=0;HaplotypeScore=6.7039;MQ=58.25;MQ0=0;MQRankSum=-0.022;QD=30.55;ReadPosRankSum=-1.732;VQSLOD=2.3415;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,234:235:99:7148,591,0 17 4875566 4875566 T C exonic CAMTA2 synonymous SNV CAMTA2:NM_001171166:exon15:c.A2775G:p.P925P,CAMTA2:NM_001171168:exon15:c.A2766G:p.P922P,CAMTA2:NM_001171167:exon16:c.A2838G:p.P946P,CAMTA2:NM_015099:exon16:c.A2769G:p.P923P 0.58 0.79 0.66 0.4 0.59 0.4 0.5839 0.7773 0.6405 0.4035 0.4702 0.6176 0.5607 0.4270 0.67 0.78 0.62 0.6 0.57 rs238230 COSM3766124;COSM3766123;COSM5618935 1(breast);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5769 0.7715 0.6398 0.5835 0.4046 0.4722 0.6192 0.5860 0.4269 0.6288 0.7647 0.6337 0.6093 0.4145 0.4724 0.6142 0.5523 hom 4339.54 146 17 4875566 . T C 4339.54 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.87;MQ0=0;QD=29.72;VQSLOD=8.6726;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:146:99:4294,355,0 17 4883818 4883818 C G exonic CAMTA2 nonsynonymous SNV CAMTA2:NM_001171166:exon8:c.G805C:p.A269P,CAMTA2:NM_001171168:exon8:c.G796C:p.A266P,CAMTA2:NM_001171167:exon9:c.G868C:p.A290P,CAMTA2:NM_015099:exon9:c.G799C:p.A267P 0.72 0.95 0.85 0.5 0.78 0.47 0.7511 0.9352 0.8058 0.4892 0.7162 0.8128 0.7339 0.5062 0.85 0.94 0.81 0.72 0.7 rs238234 COSM3766127;COSM3766128 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.141 0.183 N 1 0.090 P -0.55 0.024 N 1.01 0.411 T -0.04 0.080 N 0.019 0.036 -1.043 0.164 T 0.000 0.000 T . . . -1.985 0.008 0.001 0.506 0.043 0.004 0.019 N c -2.266 -2.213 0.189 0.180 0.713 0.817 0 -2.14 0.067 0.379 0.202 -2.903 0.002 0.000 0.063 0.002 0.062 1.380 0.021 . ENSG00000108515.13|ENSG00000108509.16|ENSG00000108523.11|ENSG00000108515.13|ENSG00000129250.7 Artery_Aorta|Artery_Tibial|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.7484 0.9382 0.8091 0.7407 0.4928 0.7132 0.8149 0.7820 0.5095 0.8147 0.9322 0.8073 0.7671 0.4874 0.7152 0.8133 0.7440 hom 2639.73 82 17 4883818 . C G 2639.73 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6817;MQ=58.40;MQ0=0;QD=32.19;VQSLOD=8.7567;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2673,214,0 17 4926882 4926882 A G exonic KIF1C synonymous SNV KIF1C:NM_006612:exon23:c.A2748G:p.P916P 0.68 0.52 0.74 0.66 0.71 0.81 0.7143 0.5559 0.7743 0.6593 0.6515 0.7166 0.7109 0.8106 0.66 0.56 0.72 0.67 0.52 rs346828 COSM1162595 1(pancreas) Benign not_specified RCV000419736.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7177 0.5527 0.7706 0.7316 0.6657 0.6525 0.7190 0.6948 0.8108 0.6652 0.5599 0.7518 0.7053 0.6679 0.6625 0.7170 0.7261 hom 2055.27 70 17 4926882 . A G 2055.27 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=29.36;VQSLOD=8.1420;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2088,174,0 17 4936972 4936972 G A exonic SLC52A1 nonsynonymous SNV SLC52A1:NM_001104577:exon3:c.C812T:p.A271V,SLC52A1:NM_017986:exon3:c.C812T:p.A271V 0.53 0.73 0.64 0.23 0.64 0.37 0.5893 0.7286 0.6038 0.2253 0.5530 0.6665 0.5721 0.3860 0.69 0.74 0.66 0.62 0.59 rs346821 COSM5618003 1(breast) . . . . . . . . . . . 0.322 0.135 T 0.046 0.205 B 0.059 0.252 B 0.816 0.092 N 0.166 0.349 P 1.725 0.447 L -0.9 0.749 T -0.92 0.247 N 0.035 0.025 -0.927 0.446 T 0.000 0.000 T . . . 0.330 0.126 5.979 0.787 0.120 0.152 0.186 N c -1.008 -1.088 0.001 0.080 0.598 0.340 0 0.784 0.176 0.790 0.264 0.644 0.292 0.167 0.237 0.009 0.108 7.391 0.259 . ENSG00000091640.3|ENSG00000108515.13|ENSG00000196388.4|ENSG00000108515.13|ENSG00000108515.13|ENSG00000132517.10|ENSG00000091640.3|ENSG00000108515.13|ENSG00000108509.16|ENSG00000108515.13|ENSG00000132517.10|ENSG00000129204.12|ENSG00000129204.12|ENSG00000108515.13|ENSG00000262429.1|ENSG00000108509.16 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood|Whole_Blood 0.5837 0.7314 0.6096 0.6381 0.2259 0.5544 0.6662 0.6048 0.3868 0.6436 0.7335 0.6220 0.6623 0.2280 0.5562 0.6608 0.5914 hom 2273.63 70 17 4936972 . G A 2273.63 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.48;VQSLOD=13.1044;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2307,196,0 17 4937575 4937575 T C exonic SLC52A1 nonsynonymous SNV SLC52A1:NM_001104577:exon3:c.A209G:p.Q70R,SLC52A1:NM_017986:exon3:c.A209G:p.Q70R 0.92 0.97 0.96 0.82 0.96 0.91 0.9401 0.9575 0.9643 0.8092 0.9744 0.9552 0.9364 0.9052 0.95 0.96 0.95 0.96 0.77 rs346822 COSM4130409 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.090 P -3.055 0.000 N -0.43 0.697 T 1.98 0.004 N 0.073 0.062 -0.973 0.366 T 0.000 0.000 T . . . -2.183 0.006 0.001 0.112 0.002 0.033 0.082 N c -1.581 -1.453 0.000 0.012 0.583 0.331 0 1.29 0.206 0.611 0.238 -0.277 0.085 0.975 0.345 0.047 0.162 6.407 0.207 . ENSG00000108523.11|ENSG00000108523.11|ENSG00000108509.16|ENSG00000262429.1|ENSG00000234203.1|ENSG00000108509.16|ENSG00000108509.16|ENSG00000129250.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Stomach|Testis 0.9416 0.9574 0.9659 0.9355 0.8161 0.9732 0.9562 0.9413 0.9050 0.9507 0.9579 0.9629 0.9272 0.8156 0.9748 0.9548 0.9581 hom 3226.07 101 17 4937575 . T C 3226.07 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6795;MQ=59.77;MQ0=0;QD=31.94;VQSLOD=8.3279;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:101:99:3260,271,0 17 5042894 5042894 T C exonic USP6 nonsynonymous SNV USP6:NM_004505:exon14:c.T1423C:p.W475R,USP6:NM_001304284:exon22:c.T1423C:p.W475R 0.78 0.88 0.57 0.91 0.56 0.86 0.6492 0.8261 0.5940 0.9109 0.6823 0.5482 0.6538 0.8337 0.64 0.81 0.55 0.78 0.59 rs8073787 COSM3766134;COSM3766135 1(liver) . . . . . . . . . . . 0.067 0.359 T 0.003 0.126 B 0.001 0.040 B 0.000 0.843 D 1 0.090 P 0.69 0.170 N 3.11 0.082 T 2.13 0.004 N 0.233 0.285 -1.065 0.106 T 0.000 0.000 T . . . -0.312 0.068 0.625 0.395 0.027 0.007 0.030 N c -1.707 -1.785 0.017 0.129 0.554 0.283 0 -0.532 0.112 -0.057 0.116 -2.526 0.003 0.075 0.220 0.000 0.016 . . . ENSG00000167840.9|ENSG00000129197.10|ENSG00000234327.3|ENSG00000029725.12|ENSG00000263272.1|ENSG00000129197.10|ENSG00000167840.9|ENSG00000129204.12|ENSG00000161929.10|ENSG00000129204.12|ENSG00000029725.12|ENSG00000108559.7|ENSG00000263164.1|ENSG00000029725.12|ENSG00000129204.12|ENSG00000261879.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.6437 0.8312 0.5916 0.5471 0.9042 0.6857 0.5434 0.6213 0.8296 0.6723 0.8215 0.5791 0.5662 0.8974 0.6812 0.5679 0.6446 het 1298.83 116 17 5042894 . T C 1298.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.193;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7990;MQ=59.24;MQ0=0;MQRankSum=0.810;QD=11.20;ReadPosRankSum=-0.488;VQSLOD=6.3159;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,50:116:99:1329,0,1740 17 5058808 5058808 G A exonic USP6 nonsynonymous SNV USP6:NM_004505:exon23:c.G2735A:p.R912Q,USP6:NM_001304284:exon31:c.G2735A:p.R912Q 0.34 0.19 0.61 0.17 0.6 0.24 0.5087 0.2662 0.5547 0.1593 0.4819 0.6446 0.5110 0.2740 0.52 0.29 0.64 0.39 0.57 rs9899177 COSM4997892;COSM4997891 1(bone);1(pancreas) . . . . . . . . . . . 0.243 0.175 T 0.996 0.764 D 0.755 0.604 P 0.000 0.629 D 0.309 0.588 P 2.01 0.549 M 2.99 0.093 T -0.73 0.206 N 0.071 0.530 -1.109 0.032 T 0.000 0.000 T . . . 5.278 0.714 25.7 0.999 0.997 0.882 0.477 D c 0.278 0.232 0.000 0.065 0.706 0.609 0 2.91 0.328 6.604 0.738 0.698 0.298 1.000 0.715 0.995 0.604 11.623 0.502 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain ENSG00000263164.1|ENSG00000263272.1|ENSG00000005100.8|ENSG00000129197.10|ENSG00000263164.1|ENSG00000263164.1|ENSG00000263164.1|ENSG00000161929.10|ENSG00000167840.9|ENSG00000029725.12|ENSG00000263164.1|ENSG00000108559.7|ENSG00000129204.12|ENSG00000263164.1|ENSG00000029725.12|ENSG00000108559.7|ENSG00000263164.1|ENSG00000262855.1|ENSG00000029725.12|ENSG00000129204.12|ENSG00000161929.10|ENSG00000261879.1 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5126 0.2588 0.5613 0.6119 0.1650 0.4742 0.6477 0.5502 0.2792 0.4821 0.2714 0.5682 0.6033 0.1753 0.4739 0.6289 0.5316 hom 5413.19 171 17 5058808 . G A 5413.19 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9243;MQ=58.03;MQ0=0;QD=31.66;VQSLOD=3.7914;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:171:99:5413,421,0 17 5072316 5072316 C T exonic USP6 synonymous SNV USP6:NM_004505:exon27:c.C3483T:p.S1161S,USP6:NM_001304284:exon35:c.C3483T:p.S1161S 0.32 0.14 0.6 0.17 0.6 0.24 0.5090 0.2168 0.5535 0.1595 0.4802 0.6455 0.5055 0.2906 0.5 0.24 0.64 0.24 0.57 rs11658877 COSM5021912;COSM5021911 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5091 0.2046 0.5608 0.6134 0.1651 0.4730 0.6478 0.5466 0.2805 0.4659 0.2174 0.5632 0.6033 0.1743 0.4711 0.6288 0.5245 hom 3233.06 110 17 5072316 . C T 3233.06 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5646;MQ=49.95;MQ0=9;QD=29.39;VQSLOD=3.2467;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:6,104:110:99:3268,265,0 17 5085893 5085893 C T exonic ZNF594 synonymous SNV ZNF594:NM_032530:exon2:c.G1659A:p.E553E 0.32 0.14 0.6 0.17 0.6 0.24 0.5052 0.2137 0.5536 0.1601 0.4809 0.6440 0.5055 0.2743 0.52 0.26 0.64 0.35 0.57 rs4115657 COSM4151675 1(bone);1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5087 0.2047 0.5605 0.6053 0.1660 0.4727 0.6474 0.5472 0.2797 0.4662 0.2181 0.5683 0.5993 0.1735 0.4719 0.6285 0.5237 hom 5336.22 166 17 5085893 . C T 5336.22 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8697;MQ=58.56;MQ0=0;QD=32.15;VQSLOD=7.1618;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5336,412,0 17 5087040 5087040 A G exonic ZNF594 nonsynonymous SNV ZNF594:NM_032530:exon2:c.T512C:p.I171T 0.23 0.12 0.43 0.097 0.44 0.14 0.3625 0.2496 0.4114 0.0917 0.3187 0.4535 0.3468 0.1665 . . . 0.23 0.38 rs9908414 COSM1384544 1(haematopoietic_and_lymphoid_tissue);1(pancreas);10(upper_aerodigestive_tract) . . . . . . . . . . . 0.893 0.025 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -0.73 0.018 N 1.19 0.376 T -0.72 0.204 N 0.094 0.094 -0.916 0.461 T 0.000 0.000 T . . . -2.737 0.002 0.001 0.103 0.001 0.000 0.000 N c -1.645 -1.734 0.002 0.086 0.554 0.283 0 -2.72 0.056 -2.937 0.007 -1.235 0.015 0.000 0.063 0.009 0.108 6.350 0.204 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000129197.10|ENSG00000234327.3|ENSG00000029725.12|ENSG00000263272.1|ENSG00000129197.10|ENSG00000167840.9|ENSG00000161929.10|ENSG00000129204.12|ENSG00000029725.12|ENSG00000108559.7|ENSG00000263164.1|ENSG00000029725.12|ENSG00000129204.12|ENSG00000261879.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3649 0.2461 0.4141 0.4563 0.0978 0.3142 0.4575 0.3835 0.1705 0.3595 0.2553 0.4225 0.4362 0.1057 0.3190 0.4327 0.3580 het 1786.44 131 17 5087040 . A G 1786.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.909;DP=131;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=10.5759;MQ=58.87;MQ0=0;MQRankSum=1.354;QD=13.64;ReadPosRankSum=-0.012;VQSLOD=4.1357;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,70:131:99:1816,0,1478 17 5126674 5126674 A G exonic SCIMP synonymous SNV SCIMP:NM_001271842:exon2:c.T99C:p.G33G,SCIMP:NM_001319190:exon2:c.T99C:p.G33G,SCIMP:NM_207103:exon2:c.T99C:p.G33G 0.44 0.33 0.64 0.35 0.66 0.31 0.5788 0.3507 0.6027 0.3390 0.5641 0.6961 0.5733 0.3545 0.59 0.37 0.69 0.48 0.61 rs2641256 COSM4000211 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5814 0.3483 0.6109 0.6430 0.3446 0.5561 0.7005 0.6197 0.3572 0.5574 0.3614 0.6043 0.65 0.3669 0.5550 0.6868 0.5838 hom 8893.90 250 17 5126674 . A G 8893.90 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1174;MQ=59.37;MQ0=0;QD=35.58;VQSLOD=6.6258;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8893,707,0 17 5126689 5126689 G A exonic SCIMP synonymous SNV SCIMP:NM_001271842:exon2:c.C84T:p.I28I,SCIMP:NM_001319190:exon2:c.C84T:p.I28I,SCIMP:NM_207103:exon2:c.C84T:p.I28I 0.34 0.18 0.59 0.2 0.6 0.23 0.5030 0.2249 0.5619 0.1755 0.4719 0.6388 0.4967 0.2617 0.51 0.25 0.64 0.37 0.55 rs2585271 COSM4000212;COSM5654328 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5069 0.2192 0.5697 0.6000 0.1775 0.4633 0.6435 0.5454 0.2647 0.4660 0.2277 0.5647 0.5933 0.1942 0.4608 0.6249 0.5133 hom 8774.61 250 17 5126689 . G A 8774.61 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.46;MQ0=0;QD=35.10;VQSLOD=9.2721;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8774,704,0 17 5264916 5264916 C T exonic RABEP1 synonymous SNV RABEP1:NM_001291581:exon8:c.C1380T:p.S460S,RABEP1:NM_001083585:exon9:c.C1509T:p.S503S,RABEP1:NM_004703:exon9:c.C1509T:p.S503S 0.096 0.25 0.043 . 0.081 0.044 0.0816 0.2231 0.0421 0.0005 0.0753 0.0863 0.0624 0.0523 0.12 0.21 0.081 0.11 0.057 rs34594998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0778 0.2273 0.0452 0.0796 0.0002 0.0728 0.0867 0.0757 0.0535 0.1227 0.2155 0.0525 0.0828 0 0.0681 0.1009 0.1002 het 1129.92 116 17 5264916 . C T 1129.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.896;DP=116;Dels=0.00;FS=7.860;HRun=0;HaplotypeScore=5.7686;MQ=58.63;MQ0=0;MQRankSum=-0.049;QD=9.74;ReadPosRankSum=0.159;VQSLOD=3.6618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,46:116:99:1160,0,1893 17 5366947 5366947 G A exonic DHX33 nonsynonymous SNV DHX33:NM_020162:exon2:c.C352T:p.R118C 0.11 0.23 0.068 0.023 0.12 0.041 0.1086 0.2074 0.0478 0.0159 0.1154 0.1294 0.0861 0.0523 0.14 0.21 0.11 0.12 0.098 rs8069315 COSM5618392 1(breast) . . . . . . . . . . . 0.013 0.538 D 0.136 0.257 B 0.032 0.208 B 0.000 0.843 D 0.000 0.810 P 1.955 0.530 M 3.16 0.077 T -4.07 0.746 D 0.239 0.372 -1.044 0.160 T 0.000 0.000 T . . . 7.564 0.953 34 0.999 0.993 0.971 0.728 D c 0.197 0.302 1.000 0.747 0.707 0.730 0 5.04 0.672 5.639 0.673 0.953 0.551 1.000 0.715 0.993 0.574 17.368 0.872 DEAD/DEAH box helicase domain|Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase . . 0.1038 0.2110 0.0580 0.1243 0.0153 0.1175 0.1266 0.1007 0.0515 0.1396 0.2003 0.0730 0.13 0.0155 0.1058 0.1312 0.1139 het 1492.57 116 17 5366947 . G A 1492.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.396;DP=116;Dels=0.00;FS=1.267;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=0.501;QD=12.87;ReadPosRankSum=0.623;VQSLOD=6.4183;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,51:116:99:1523,0,1971 17 5425077 5425077 T C exonic NLRP1 nonsynonymous SNV NLRP1:NM_033006:exon12:c.A3460G:p.M1154V,NLRP1:NM_033007:exon12:c.A3460G:p.M1154V,NLRP1:NM_001033053:exon13:c.A3562G:p.M1188V,NLRP1:NM_014922:exon13:c.A3550G:p.M1184V,NLRP1:NM_033004:exon13:c.A3550G:p.M1184V 0.42 0.48 0.43 0.28 0.46 0.42 0.4549 0.5146 0.4580 0.2487 0.4655 0.4754 0.4621 0.4354 0.48 0.51 0.47 0.47 0.36 rs11651270 COSM4000217;COSM4000218;COSM4000219 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign not_specified RCV000455985.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.058 0.224 N 1 0.090 P -2.87 0.000 N 2.82 0.109 T 1.77 0.005 N 0.061 0.045 -0.940 0.427 T 0.000 0.000 T . . . -0.778 0.041 0.048 0.337 0.020 0.001 0.006 N c -1.398 -1.198 0.176 0.178 0.706 0.609 0 2.26 0.273 0.546 0.228 0.067 0.174 0.003 0.159 0.973 0.468 6.051 0.189 FIIND domain ENSG00000129197.10|ENSG00000091592.11 Cells_Transformed_fibroblasts|Nerve_Tibial 0.4498 0.5139 0.4592 0.5198 0.2431 0.4589 0.4688 0.4604 0.4245 0.4631 0.5107 0.4474 0.4967 0.2407 0.4631 0.4601 0.4568 hom 3542.83 116 17 5425077 . T C 3542.83 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7359;MQ=58.45;MQ0=0;QD=30.54;VQSLOD=8.1695;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3542,271,0 17 5436263 5436263 C T exonic NLRP1 nonsynonymous SNV NLRP1:NM_033006:exon10:c.G3085A:p.V1029M,NLRP1:NM_033007:exon10:c.G3085A:p.V1029M,NLRP1:NM_001033053:exon11:c.G3187A:p.V1063M,NLRP1:NM_014922:exon11:c.G3175A:p.V1059M,NLRP1:NM_033004:exon11:c.G3175A:p.V1059M 0.18 0.079 0.36 0.023 0.37 0.18 0.3248 0.1240 0.3982 0.0262 0.4053 0.3988 0.3507 0.2235 0.31 0.13 0.4 0.17 0.43 rs2301582 COSM3755689;COSM3755690;COSM3755691 1(bone);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.074 0.375 T 0.434 0.419 B 0.055 0.246 B 0.758 0.065 N 1 0.090 P 0 0.065 N -0.6 0.717 T -0.08 0.082 N 0.095 0.098 -1.036 0.185 T 0.000 0.000 T . . . 0.989 0.189 10.60 0.944 0.241 0.011 0.039 N c -1.055 -1.117 0.470 0.207 0.719 0.830 0 0.836 0.179 -1.370 0.027 -0.802 0.032 0.000 0.063 0.000 0.016 6.211 0.197 . ENSG00000091592.11|ENSG00000091592.11|ENSG00000263272.1|ENSG00000129197.10|ENSG00000029725.12|ENSG00000005100.8|ENSG00000005100.8 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Nerve_Tibial|Testis 0.3315 0.1208 0.3947 0.3882 0.0230 0.4019 0.3981 0.3488 0.2263 0.3001 0.1311 0.3684 0.36 0.0185 0.4006 0.3963 0.3646 hom 1534.63 52 17 5436263 . C T 1534.63 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=29.51;VQSLOD=8.6745;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1568,123,0 17 5462240 5462240 C T exonic NLRP1 synonymous SNV NLRP1:NM_001033053:exon4:c.G1776A:p.R592R,NLRP1:NM_014922:exon4:c.G1776A:p.R592R,NLRP1:NM_033004:exon4:c.G1776A:p.R592R,NLRP1:NM_033006:exon4:c.G1776A:p.R592R,NLRP1:NM_033007:exon4:c.G1776A:p.R592R 0.028 0.003 0.049 0.001 0.086 0.015 0.0624 0.0158 0.0417 0.0017 0.0648 0.0911 0.0804 0.0197 0.069 0.019 0.096 0.054 0.098 rs61753142 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0625 0.0144 0.0457 0.1445 0.0005 0.0598 0.0882 0.0753 0.0197 0.0557 0.0154 0.0346 0.1424 0.0006 0.0576 0.0839 0.0601 het 457.40 62 17 5462240 . C T 457.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.722;DP=62;Dels=0.00;FS=1.059;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.089;QD=7.38;ReadPosRankSum=0.402;VQSLOD=4.9302;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,21:62:99:487,0,1149 17 5485367 5485367 A T exonic NLRP1 nonsynonymous SNV NLRP1:NM_001033053:exon3:c.T464A:p.L155H,NLRP1:NM_014922:exon3:c.T464A:p.L155H,NLRP1:NM_033004:exon3:c.T464A:p.L155H,NLRP1:NM_033006:exon3:c.T464A:p.L155H,NLRP1:NM_033007:exon3:c.T464A:p.L155H 0.19 0.034 0.37 0.031 0.44 0.19 0.3749 0.1012 0.4426 0.0350 0.4617 0.4721 0.3993 0.2344 0.33 0.099 0.45 0.2 0.31 rs12150220 COSM3755693;COSM1130227;COSM3755692 1(prostate);1(large_intestine) other Vitiligo-associated_multiple_autoimmune_disease_susceptibility_1 RCV000004380.3 MedGen:OMIM C1847835:606579 . . . . . . 0.06 0.375 T 0.997 0.689 D 0.823 0.574 P . . . 1 0.090 P 0.345 0.112 N 0.99 0.418 T -0.43 0.144 N 0.233 0.308 -0.972 0.369 T 0.000 0.000 T . . . 0.041 0.097 2.989 0.886 0.175 0.007 0.029 N c -0.677 -0.902 1.000 0.413 0.732 0.924 0 -1.07 0.094 -1.192 0.031 -0.928 0.025 0.000 0.063 0.000 0.016 0.444 0.005 . ENSG00000091592.11|ENSG00000129197.10|ENSG00000091592.11|ENSG00000091592.11 Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Thyroid 0.3674 0.0895 0.4161 0.4744 0.0255 0.4445 0.4571 0.4028 0.2263 0.3254 0.1006 0.3969 0.4437 0.0216 0.4518 0.4484 0.4041 hom 878.32 26 17 5485367 . A T 878.32 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;QD=33.78;VQSLOD=8.7483;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:75.23:911,75,0 17 5991344 5991344 C T exonic WSCD1 synonymous SNV WSCD1:NM_015253:exon3:c.C462T:p.H154H 0.53 0.16 0.53 0.82 0.53 0.71 0.5546 0.2095 0.5597 0.8209 0.5493 0.5446 0.5584 0.6709 0.43 0.22 0.53 0.48 0.52 rs2302836 COSM5021915 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5629 0.2024 0.5591 0.6952 0.8168 0.5584 0.5348 0.5686 0.6657 0.4706 0.2091 0.5680 0.6921 0.8147 0.5615 0.5495 0.5510 het 1581.69 149 17 5991344 . C T 1581.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.775;DP=149;Dels=0.00;FS=4.020;HRun=0;HaplotypeScore=7.0480;MQ=58.89;MQ0=0;MQRankSum=0.822;QD=10.62;ReadPosRankSum=2.283;VQSLOD=4.1198;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,61:149:99:1612,0,2229 17 6014176 6014176 A G exonic WSCD1 synonymous SNV WSCD1:NM_015253:exon7:c.A1095G:p.T365T 0.9 0.8 0.94 0.95 0.91 0.95 0.9203 0.8213 0.9669 0.9539 0.8813 0.9218 0.9020 0.9428 0.89 0.82 0.93 0.9 0.95 rs2302837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9214 0.8229 0.9616 0.8758 0.9499 0.8730 0.9264 0.9173 0.9430 0.8928 0.8357 0.9557 0.8709 0.9549 0.8632 0.9222 0.9061 hom 5980.50 178 17 6014176 . A G 5980.50 Mask AC=2;AF=1.00;AN=2;DP=178;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0878;MQ=59.12;MQ0=0;QD=33.60;VQSLOD=5.9075;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5980,499,0 17 6330068 6330068 T C exonic AIPL1 synonymous SNV AIPL1:NM_001033054:exon4:c.A462G:p.P154P,AIPL1:NM_001033055:exon4:c.A471G:p.P157P,AIPL1:NM_001285399:exon5:c.A615G:p.P205P,AIPL1:NM_001285400:exon5:c.A585G:p.P195P,AIPL1:NM_001285402:exon5:c.A534G:p.P178P,AIPL1:NM_001285403:exon5:c.A627G:p.P209P,AIPL1:NM_014336:exon5:c.A651G:p.P217P 0.71 0.73 0.74 0.67 0.76 0.66 0.7250 0.7309 0.7504 0.6680 0.6590 0.7469 0.7401 0.6701 0.74 0.72 0.75 0.65 0.67 rs2292546 COSM1162537 1(pancreas);1(thyroid) not provided|Benign|Likely benign|Likely benign|Likely benign not_provided|not_specified|Retinitis_Pigmentosa\x2c_Dominant|Retinitis_Pigmentosa\x2c_Recessive|Leber_congenital_amaurosis RCV000086230.1|RCV000251766.1|RCV000287948.1|RCV000347625.1|RCV000382157.1 MedGen|MedGen|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN221809|CN169374|CN239354|CN239466|C0339527:ORPHA65:193413001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7282 0.7258 0.7538 0.8319 0.6719 0.6622 0.7475 0.7564 0.6724 0.7215 0.7229 0.7608 0.8113 0.6629 0.6521 0.7394 0.7193 hom 4082.27 131 17 6330068 . T C 4082.27 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5887;MQ=59.44;MQ0=0;QD=31.16;VQSLOD=9.0262;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4081,340,0 17 6331803 6331803 T C exonic AIPL1 synonymous SNV AIPL1:NM_001033055:exon2:c.A120G:p.L40L,AIPL1:NM_001285399:exon3:c.A264G:p.L88L,AIPL1:NM_001285400:exon3:c.A234G:p.L78L,AIPL1:NM_001285401:exon3:c.A300G:p.L100L,AIPL1:NM_001285402:exon3:c.A183G:p.L61L,AIPL1:NM_001285403:exon3:c.A300G:p.L100L,AIPL1:NM_014336:exon3:c.A300G:p.L100L 0.58 0.46 0.68 0.54 0.68 0.6 0.6346 0.4956 0.7056 0.5400 0.6132 0.6647 0.6530 0.6078 0.61 0.5 0.66 0.6 0.66 rs8075035 COSM3755752 1(breast);1(liver);1(large_intestine) Benign|Likely benign|Likely benign|Likely benign not_specified|Leber_congenital_amaurosis|Retinitis_Pigmentosa\x2c_Recessive|Retinitis_Pigmentosa\x2c_Dominant RCV000152749.4|RCV000264832.1|RCV000309547.1|RCV000366518.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen|MedGen CN169374|C0339527:ORPHA65:193413001|CN239466|CN239354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6435 0.4893 0.7095 0.7695 0.5448 0.6203 0.6609 0.6747 0.6111 0.6022 0.4886 0.7069 0.7733 0.5483 0.6132 0.6588 0.6541 hom 3065.90 90 17 6331803 . T C 3065.90 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.81;MQ0=0;QD=34.07;VQSLOD=9.5153;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3099,241,0 17 6364753 6364753 A G exonic PITPNM3 synonymous SNV PITPNM3:NM_001165966:exon17:c.T2322C:p.D774D,PITPNM3:NM_031220:exon18:c.T2430C:p.D810D 0.91 0.99 0.86 0.91 0.87 0.9 0.8687 0.9737 0.8561 0.9160 0.8157 0.8505 0.8576 0.8819 0.89 0.97 0.85 0.95 0.79 rs11654099 COSM3766147 1(liver);1(thyroid) Benign|Benign not_specified|Cone-Rod_Dystrophy\x2c_Dominant RCV000243920.1|RCV000383674.1 MedGen|MedGen CN169374|CN239348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8658 0.9753 0.8554 0.9057 0.9072 0.8163 0.8491 0.8666 0.8831 0.8848 0.9702 0.8604 0.9338 0.9088 0.8188 0.8498 0.8622 hom 7564 250 17 6364753 . A G 7564 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2838;MQ=59.91;MQ0=0;QD=30.26;VQSLOD=7.4179;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7531,644,0 17 6381939 6381939 G A exonic PITPNM3 synonymous SNV PITPNM3:NM_001165966:exon6:c.C597T:p.T199T,PITPNM3:NM_031220:exon7:c.C705T:p.T235T 0.38 0.24 0.47 0.24 0.63 0.4 0.5277 0.2924 0.4833 0.2474 0.6196 0.6212 0.5732 0.4355 0.52 0.29 0.63 0.39 0.51 rs938288 COSM5438079 1(oesophagus) Benign|Benign not_specified|Cone-Rod_Dystrophy\x2c_Dominant RCV000254192.2|RCV000334970.1 MedGen|MedGen CN169374|CN239348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5314 0.2810 0.4947 0.6167 0.2528 0.6107 0.6230 0.5690 0.4295 0.4990 0.2926 0.5060 0.5199 0.2330 0.6109 0.6164 0.5727 hom 2340.83 74 17 6381939 . G A 2340.83 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.730;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8797;MQ=58.87;MQ0=0;MQRankSum=0.188;QD=31.63;ReadPosRankSum=1.045;VQSLOD=5.6496;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,72:74:99:2374,123,0 17 6381945 6381945 G A exonic PITPNM3 synonymous SNV PITPNM3:NM_001165966:exon6:c.C591T:p.V197V,PITPNM3:NM_031220:exon7:c.C699T:p.V233V 0.0038 0.0008 0.011 . 0.0089 0.001 0.0080 0.0022 0.0080 0 0.0025 0.0119 0.0117 0.0023 0.0082 0.0023 0.011 . 0.025 rs149964592 COSM983086 1(endometrium) Benign|Likely benign not_specified|Cone-Rod_Dystrophy\x2c_Dominant RCV000249215.1|RCV000405056.1 MedGen|MedGen CN169374|CN239348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0077 0.0015 0.0085 0.0124 0 0.0026 0.0114 0.0123 0.0021 0.0052 0.0019 0.0072 0.0099 0 0.0029 0.0079 0.0071 het 1009.33 69 17 6381945 . G A 1009.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.681;DP=69;Dels=0.00;FS=3.655;HRun=1;HaplotypeScore=2.8913;MQ=59.06;MQ0=0;MQRankSum=0.564;QD=14.63;ReadPosRankSum=-0.380;VQSLOD=4.4246;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,35:69:99:1039,0,833 17 6406883 6406883 C T exonic PITPNM3 nonsynonymous SNV PITPNM3:NM_001165966:exon3:c.G130A:p.A44T,PITPNM3:NM_031220:exon4:c.G238A:p.A80T 0.27 0.29 0.2 0.25 0.36 0.23 0.2859 0.2900 0.1542 0.2571 0.3035 0.3234 0.2833 0.2326 0.32 0.28 0.34 0.29 0.21 rs3809835 COSM3755756 1(pancreas);2(large_intestine) Benign|Benign not_specified|Cone-Rod_Dystrophy\x2c_Dominant RCV000251915.1|RCV000333183.1 MedGen|MedGen CN169374|CN239348 . . . . . . 0.78 0.075 T 0.001 0.090 B 0.003 0.080 B 0.974 0.078 N 1 0.090 P 0.11 0.085 N 1.0 0.414 T 0.63 0.088 N 0.025 0.007 -0.943 0.421 T 0.000 0.000 T . . . 0.610 0.152 8.227 0.870 0.164 0.010 0.036 N c -1.383 -1.416 0.004 0.103 0.554 0.283 0 -1.55 0.081 -1.068 0.035 -0.669 0.040 0.000 0.063 0.001 0.043 7.236 0.251 . . . 0.2828 0.2853 0.1698 0.3655 0.2581 0.3028 0.3234 0.2968 0.2311 0.3005 0.2770 0.1986 0.3567 0.2537 0.3065 0.3221 0.3053 het 662.55 63 17 6406883 . C T 662.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.285;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;MQRankSum=1.424;QD=10.52;ReadPosRankSum=-0.993;VQSLOD=6.2257;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,27:63:99:693,0,912 17 6441376 6441376 G A exonic PITPNM3 nonsynonymous SNV PITPNM3:NM_001165966:exon2:c.C49T:p.P17S,PITPNM3:NM_031220:exon2:c.C49T:p.P17S 0.053 0.026 0.065 0.002 0.11 0.076 0.0842 0.0413 0.0545 0.0101 0.1037 0.1078 0.0958 0.0663 0.087 0.044 0.11 0.054 0.082 rs28493751 COSM39259 1(kidney);2(large_intestine);1(central_nervous_system) Benign|Likely benign not_specified|Cone-Rod_Dystrophy\x2c_Dominant RCV000244243.1|RCV000375929.1 MedGen|MedGen CN169374|CN239348 . . . . . . 0.282 0.154 T 0.782 0.424 P 0.349 0.410 B 0.002 0.370 N 0.874 0.281 P 0.695 0.181 N 1.01 0.411 T 1.32 0.010 N 0.077 0.068 -1.071 0.092 T 0.002 0.005 T . . . 4.093 0.549 23.7 0.999 0.937 0.925 0.556 D c 0.148 0.280 0.376 0.199 0.578 0.323 0 4.89 0.632 3.820 0.551 0.953 0.551 1.000 0.715 1.000 0.888 13.931 0.633 . . . 0.0841 0.0393 0.0599 0.1810 0.0110 0.1061 0.1016 0.0886 0.0624 0.0793 0.0426 0.0680 0.2152 0.0136 0.0975 0.1010 0.0869 het 517.71 51 17 6441376 . G A 517.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.573;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.068;QD=10.15;ReadPosRankSum=-0.674;VQSLOD=10.5245;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,23:51:99:548,0,733 17 6493198 6493198 T C exonic KIAA0753 nonsynonymous SNV KIAA0753:NM_001351225:exon18:c.A1790G:p.Q597R,KIAA0753:NM_014804:exon18:c.A2687G:p.Q896R 0.69 0.83 0.68 0.71 0.55 0.64 0.6225 0.7813 0.7617 0.6972 0.5541 0.5687 0.6089 0.6372 0.64 0.78 0.57 0.77 0.66 rs1443417 COSM4000264 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.348 0.124 T 0.0 0.026 B 0.0 0.013 B 0.038 0.243 N 1.000 0.090 P -1.405 0.006 N 1.02 0.407 T 0.84 0.018 N 0.016 0.034 -1.018 0.245 T 0.000 0.000 T . . . -0.698 0.045 0.073 0.122 0.002 0.175 0.197 N c -1.004 -0.799 0.686 0.225 0.707 0.730 0 2.43 0.287 1.731 0.375 0.069 0.176 0.992 0.373 0.507 0.272 5.420 0.156 . ENSG00000198920.5|ENSG00000256806.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000256806.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000198920.5|ENSG00000261996.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000198920.5|ENSG00000212734.4|ENSG00000256806.1|ENSG00000108590.6|ENSG00000198920.5|ENSG00000198920.5|ENSG00000256806.1|ENSG00000212734.4|ENSG00000212734.4|ENSG00000261996.1|ENSG00000198920.5|ENSG00000108590.6|ENSG00000261996.1|ENSG00000256806.1|ENSG00000212734.4 Artery_Aorta|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid 0.6216 0.7831 0.7461 0.5101 0.7008 0.5527 0.5697 0.6150 0.6372 0.6369 0.7839 0.7105 0.4702 0.7115 0.5515 0.5663 0.5798 hom 2599.90 82 17 6493198 . T C 2599.90 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9970;MQ=59.49;MQ0=0;QD=31.71;VQSLOD=9.5206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2633,226,0 17 6511781 6511781 A G exonic KIAA0753 synonymous SNV KIAA0753:NM_001351225:exon10:c.T819C:p.A273A,KIAA0753:NM_014804:exon10:c.T1716C:p.A572A 0.66 0.73 0.67 0.71 0.55 0.64 0.6178 0.6961 0.7582 0.6969 0.5543 0.5702 0.6104 0.6502 0.62 0.71 0.57 0.71 0.54 rs4796519 COSM3755763 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6136 0.6983 0.7537 0.5213 0.6965 0.5548 0.5726 0.6129 0.6428 0.6135 0.7021 0.7033 0.4702 0.7104 0.5515 0.5663 0.5764 hom 6428.71 215 17 6511781 . A G 6428.71 Mask AC=2;AF=1.00;AN=2;DP=215;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6642;MQ=59.48;MQ0=0;QD=29.90;VQSLOD=8.5480;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,215:215:99:6427,506,0 17 6513329 6513329 G A exonic KIAA0753 nonsynonymous SNV KIAA0753:NM_001351225:exon9:c.C800T:p.P267L,KIAA0753:NM_014804:exon9:c.C1697T:p.P566L 0.27 0.03 0.39 0.36 0.35 0.35 0.3575 0.0763 0.5063 0.3350 0.3501 0.3737 0.3611 0.3694 0.28 0.085 0.38 0.21 0.34 rs2304977 COSM3755764 1(breast);3(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.016 0.518 D 0.979 0.571 D 0.747 0.541 P 0.000 0.629 D 0.000 0.504 P 2.74 0.803 M -2.02 0.856 D -5.11 0.831 D 0.271 0.376 -1.136 0.015 T 0.000 0.000 T . . . 6.370 0.880 29.5 0.999 0.934 0.834 0.423 D c 0.411 0.371 0.855 0.251 0.707 0.730 0 4.15 0.478 2.221 0.423 -0.238 0.093 0.998 0.411 0.831 0.347 11.292 0.483 . ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000129235.6|ENSG00000198920.5|ENSG00000261996.1|ENSG00000256806.1|ENSG00000198920.5|ENSG00000212734.4|ENSG00000198920.5|ENSG00000108590.6|ENSG00000261996.1|ENSG00000256806.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000198920.5|ENSG00000091622.11|ENSG00000198920.5|ENSG00000129221.10|ENSG00000198920.5|ENSG00000261996.1|ENSG00000256806.1|ENSG00000212734.4|ENSG00000198920.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3638 0.0726 0.4846 0.3370 0.3379 0.3460 0.3754 0.3831 0.3667 0.2816 0.0863 0.4498 0.3278 0.3273 0.3438 0.3610 0.3517 het 1494.64 140 17 6513329 . G A 1494.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DP=140;Dels=0.00;FS=0.629;HRun=0;HaplotypeScore=3.6811;MQ=58.88;MQ0=0;MQRankSum=1.042;QD=10.68;ReadPosRankSum=0.658;VQSLOD=6.2452;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,59:140:99:1525,0,2186 17 6515387 6515387 A G exonic KIAA0753 nonsynonymous SNV KIAA0753:NM_001351225:exon8:c.T500C:p.L167P,KIAA0753:NM_014804:exon8:c.T1397C:p.L466P 0.69 0.83 0.68 0.71 0.55 0.64 0.6224 0.7811 0.7616 0.6970 0.5543 0.5686 0.6089 0.6371 0.64 0.78 0.57 0.77 0.66 rs2289642 COSM3755765 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.285 0.039 N 1 0.090 P -2.125 0.001 N 2.87 0.104 T 2.26 0.003 N 0.046 0.146 -1.017 0.245 T 0.000 0.000 T . . . -0.733 0.043 0.061 0.049 0.000 0.002 0.012 N c -1.624 -1.611 0.008 0.116 0.707 0.730 0 -3.82 0.040 -0.702 0.051 -0.678 0.039 0.000 0.063 0.009 0.108 5.043 0.137 . ENSG00000198920.5|ENSG00000256806.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000256806.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000198920.5|ENSG00000261996.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000198920.5|ENSG00000212734.4|ENSG00000256806.1|ENSG00000108590.6|ENSG00000198920.5|ENSG00000198920.5|ENSG00000256806.1|ENSG00000212734.4|ENSG00000212734.4|ENSG00000261996.1|ENSG00000198920.5|ENSG00000108590.6|ENSG00000261996.1|ENSG00000256806.1|ENSG00000212734.4 Artery_Aorta|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid 0.6215 0.7823 0.7454 0.5102 0.7007 0.5528 0.5696 0.6147 0.6370 0.6368 0.7848 0.7110 0.4702 0.7097 0.5519 0.5656 0.5787 hom 5993.55 201 17 6515387 . A G 5993.55 Mask AC=2;AF=1.00;AN=2;DP=201;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7839;MQ=59.54;MQ0=0;QD=29.82;VQSLOD=8.8240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,201:201:99:5992,472,0 17 6515454 6515454 C T exonic KIAA0753 nonsynonymous SNV KIAA0753:NM_001351225:exon8:c.G433A:p.D145N,KIAA0753:NM_014804:exon8:c.G1330A:p.D444N 0.54 0.33 0.62 0.71 0.51 0.6 0.5595 0.3656 0.7313 0.6974 0.4949 0.5385 0.5556 0.5933 0.48 0.37 0.54 0.49 0.59 rs2289643 COSM1130191 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thymus) . . . . . . . . . . . 0.322 0.135 T 0.025 0.179 B 0.005 0.104 B 0.200 0.033 N 1 0.198 P 1.32 0.331 L 3.04 0.088 T -0.42 0.142 N 0.015 0.007 -0.948 0.414 T 0.000 0.000 T . . . 1.010 0.191 10.72 0.885 0.175 0.225 0.215 N c -0.684 -0.699 0.009 0.117 0.707 0.730 0 3.36 0.374 1.334 0.332 0.892 0.403 0.186 0.239 0.028 0.145 8.274 0.308 . ENSG00000198920.5|ENSG00000198920.5|ENSG00000256806.1|ENSG00000212734.4|ENSG00000256806.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000256806.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000198920.5|ENSG00000261996.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000198920.5|ENSG00000212734.4|ENSG00000256806.1|ENSG00000198920.5|ENSG00000198920.5|ENSG00000256806.1|ENSG00000212734.4|ENSG00000261996.1|ENSG00000198920.5|ENSG00000108590.6|ENSG00000261996.1|ENSG00000256806.1|ENSG00000212734.4 Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid 0.5667 0.3658 0.7147 0.4760 0.7013 0.4972 0.5417 0.5702 0.5994 0.4908 0.3692 0.6699 0.4536 0.7098 0.4948 0.5250 0.5317 hom 3548.93 111 17 6515454 . C T 3548.93 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1537;MQ=59.79;MQ0=0;QD=31.97;VQSLOD=8.4471;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3548,280,0 17 6524298 6524298 T A exonic KIAA0753 nonsynonymous SNV KIAA0753:NM_001351225:exon7:c.A228T:p.E76D,KIAA0753:NM_014804:exon7:c.A1125T:p.E375D 0.31 0.16 0.4 0.36 0.35 0.35 0.3695 0.1969 0.5124 0.3375 0.3514 0.3758 0.3667 0.3702 0.32 0.2 0.38 0.23 0.23 rs9889363 COSM4000267 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.021 0.491 D 0.999 0.764 D 0.994 0.807 D 0.017 0.277 N 0.157 0.351 P 2.78 0.814 M -2.19 0.868 D -1.64 0.393 N 0.114 0.196 -1.146 0.011 T 0.000 0.000 T . . . 5.756 0.786 27.0 0.998 0.893 0.805 0.398 D c 0.436 0.366 0.002 0.086 0.732 0.924 0 3.84 0.433 0.809 0.266 1.011 0.635 1.000 0.715 1.000 0.888 7.626 0.272 . ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000198920.5|ENSG00000261996.1|ENSG00000256806.1|ENSG00000198920.5|ENSG00000212734.4|ENSG00000108590.6|ENSG00000198920.5|ENSG00000108590.6|ENSG00000261996.1|ENSG00000256806.1|ENSG00000212734.4|ENSG00000198920.5|ENSG00000198920.5|ENSG00000091622.11|ENSG00000129221.10|ENSG00000198920.5|ENSG00000261996.1|ENSG00000256806.1|ENSG00000212734.4|ENSG00000198920.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3723 0.1923 0.4902 0.3401 0.3371 0.3456 0.3757 0.3906 0.3671 0.3143 0.2011 0.4558 0.3278 0.3248 0.3439 0.3614 0.3554 het 578.20 50 17 6524298 . T A 578.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.913;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0451;MQ=59.07;MQ0=0;MQRankSum=-0.876;QD=11.56;ReadPosRankSum=1.538;VQSLOD=3.8219;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:23,27:50:99:608,0,615 17 6531648 6531648 A G exonic KIAA0753 synonymous SNV KIAA0753:NM_014804:exon3:c.T507C:p.S169S 0.7 0.86 0.68 0.71 0.55 0.64 0.6255 0.8096 0.7652 0.6971 0.5554 0.5691 0.6111 0.6372 0.65 0.81 0.58 0.78 0.66 rs2072149 COSM3755766 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6241 0.8120 0.7489 0.5123 0.7006 0.5532 0.5699 0.6170 0.6371 0.6459 0.8154 0.7141 0.4667 0.7110 0.5519 0.5661 0.5782 hom 4004.07 130 17 6531648 . A G 4004.07 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.39;MQ0=0;QD=30.80;VQSLOD=9.0135;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4003,325,0 17 6555546 6555546 - G exonic C17orf100 frameshift insertion C17orf100:NM_001105520:exon1:c.314dupG:p.P106Afs*14 1. 1. 1. 1. 1. 1. 0.9991 0.9997 0.9995 1 1 0.9986 1 0.9999 1. 1. 1. 0.043 . rs56268735 COSM1385595 3(upper_aerodigestive_tract);3(large_intestine);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9998 0.9990 0.9870 1 0.9997 0.9993 0.9972 1.0000 0.9995 0.9998 0.9988 0.9934 1 0.9997 0.9994 0.9990 hom 1004.84 26 17 6555546 . C CG 1004.84 Mask AC=2;AF=1.00;AN=2;DP=26;FS=0.000;HRun=2;HaplotypeScore=74.8968;MQ=61.19;MQ0=0;QD=38.65;set=variant2 GT:AD:DP:GQ:PL 1/1:0,26:26:78.22:1047,78,0 17 6663895 6663895 C G exonic XAF1 synonymous SNV XAF1:NM_199139:exon3:c.C339G:p.R113R,XAF1:NM_017523:exon4:c.C396G:p.R132R 0.53 0.74 0.39 0.58 0.31 0.49 0.3964 0.6852 0.3884 0.5676 0.3832 0.3262 0.3671 0.4223 0.41 0.61 0.31 0.47 0.32 rs2271231 COSM4130531;COSM5021918 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . 0.52 0.553 T . . . . . . . . . . . . . . 0.074 0.101 3.337 0.523 0.046 0.001 0.009 N n 0.036 -0.147 0.993 0.330 0.672 0.522 0 1.76 0.237 0.353 0.197 -0.240 0.092 0.000 0.063 0.000 0.016 5.998 0.186 . ENSG00000177294.6|ENSG00000177294.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum 0.3866 0.6891 0.3841 0.3044 0.5534 0.3872 0.3220 0.3516 0.4119 0.4502 0.6793 0.3842 0.3245 0.5694 0.3926 0.3283 0.3816 het 866.98 76 17 6663895 . C G 866.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.499;DP=76;Dels=0.00;FS=3.132;HRun=1;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;MQRankSum=0.773;QD=11.41;ReadPosRankSum=0.573;VQSLOD=5.7538;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,32:76:99:897,0,1276 17 6683215 6683215 C T exonic FBXO39 nonsynonymous SNV FBXO39:NM_153230:exon2:c.C28T:p.P10S 0.32 0.21 0.29 0.62 0.21 0.32 0.2652 0.2102 0.3215 0.6123 0.2445 0.2190 0.2544 0.2746 0.22 0.22 0.22 0.34 0.16 rs4796555 . . . . . . . . . . . . . 0.081 0.334 T 0.022 0.174 B 0.01 0.139 B 0.130 0.187 N 0.995 0.233 P 2.015 0.552 M 0.58 0.542 T 0.0 0.070 N 0.045 0.025 -0.934 0.435 T 0.000 0.000 T . . . 1.296 0.220 12.25 0.989 0.473 0.416 0.265 N c -0.633 -0.510 0.966 0.288 0.487 0.133 0 2.26 0.273 0.952 0.285 0.935 0.490 0.059 0.215 0.923 0.397 4.791 0.125 F-box domain|Leucine-rich repeat domain\x2c L domain-like ENSG00000177294.6 Adipose_Subcutaneous 0.2668 0.2092 0.3222 0.2051 0.6023 0.2540 0.2155 0.2405 0.2667 0.2421 0.2052 0.2828 0.1623 0.5805 0.2497 0.2237 0.2561 het 1463.47 128 17 6683215 . C T 1463.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.872;DP=128;Dels=0.00;FS=9.654;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=1.274;QD=11.43;ReadPosRankSum=-0.679;VQSLOD=4.7034;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,59:128:99:1493,0,1893 17 6690161 6690161 C T exonic FBXO39 synonymous SNV FBXO39:NM_153230:exon3:c.C1086T:p.I362I 0.31 0.19 0.3 0.58 0.2 0.29 0.2561 0.1860 0.3224 0.5977 0.2209 0.2129 0.2390 0.2648 0.2 0.19 0.21 0.26 0.17 rs17853331 COSM5021919 1(bone);1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2581 0.1829 0.3211 0.2071 0.5882 0.2295 0.2100 0.2336 0.2580 0.2257 0.1765 0.2888 0.1854 0.5562 0.2308 0.2134 0.2454 het 1393.74 108 17 6690161 . C T 1393.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.598;DP=108;Dels=0.00;FS=2.625;HRun=1;HaplotypeScore=3.1438;MQ=59.09;MQ0=0;MQRankSum=1.229;QD=12.90;ReadPosRankSum=1.766;VQSLOD=5.5315;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,49:108:99:1424,0,1660 17 6716242 6716242 G A exonic TEKT1 nonsynonymous SNV TEKT1:NM_053285:exon6:c.C760T:p.R254C 0.25 0.1 0.29 0.44 0.21 0.26 0.2285 0.1167 0.2968 0.4509 0.2090 0.2061 0.2181 0.2342 0.18 0.12 0.21 0.27 0.15 rs3744395 COSM5425413 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.13 0.267 T 0.037 0.195 B 0.035 0.214 B 0.013 0.290 N 0.002 0.449 P 1.865 0.494 L 4.08 0.030 T -3.89 0.728 D 0.151 0.460 -0.939 0.429 T 0.000 0.000 T . . . 2.602 0.374 20.2 0.979 0.366 0.753 0.366 D c -0.537 -0.502 0.138 0.172 0.487 0.133 0 0.207 0.144 0.974 0.288 0.882 0.386 0.993 0.376 0.864 0.361 4.477 0.111 . ENSG00000177294.6 Adipose_Subcutaneous 0.2311 0.1142 0.2940 0.1708 0.4394 0.2181 0.2055 0.2143 0.2284 0.1954 0.1157 0.2637 0.1667 0.4111 0.2237 0.2068 0.2224 het 2898.71 197 17 6716242 . G A 2898.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DP=197;DS;Dels=0.00;FS=15.177;HRun=0;HaplotypeScore=3.7121;MQ=58.88;MQ0=0;MQRankSum=-1.163;QD=14.71;ReadPosRankSum=2.341;VQSLOD=2.4795;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,105:197:99:2929,0,2456 17 6733672 6733672 T C exonic TEKT1 synonymous SNV TEKT1:NM_053285:exon2:c.A24G:p.P8P 0.6 0.9 0.43 0.56 0.46 0.51 0.5065 0.8428 0.4051 0.5676 0.4524 0.4706 0.4570 0.5026 0.59 0.82 0.47 0.65 0.37 rs8078571 COSM148167 1(stomach);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4947 0.8475 0.4206 0.4398 0.5587 0.4654 0.4670 0.4710 0.4929 0.5750 0.8314 0.4211 0.4305 0.5311 0.4688 0.4718 0.4928 hom 1411.28 51 17 6733672 . T C 1411.28 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7834;MQ=57.47;MQ0=0;QD=27.67;VQSLOD=5.8864;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1444,117,0 17 6904934 6904934 A G exonic ALOX12 nonsynonymous SNV ALOX12:NM_000697:exon8:c.A965G:p.N322S 0.34 0.15 0.27 0.47 0.4 0.45 0.3844 0.1909 0.2226 0.4915 0.3310 0.4189 0.3811 0.4462 0.35 0.2 0.42 0.3 0.31 rs434473 COSM4416232 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.618 0.053 T 0.0 0.026 B 0.004 0.093 B 0.100 0.199 N 0.999 0.216 P 0.17 0.090 N -1.0 0.760 T -0.34 0.127 N 0.017 0.003 -1.019 0.241 T 0.000 0.000 T . . . -0.898 0.036 0.026 0.675 0.081 0.068 0.127 N c -1.426 -1.394 1.000 0.747 0.653 0.483 0 -4.4 0.033 -0.045 0.119 0.097 0.197 0.003 0.159 0.861 0.359 8.230 0.306 Lipoxygenase\x2c C-terminal ENSG00000262089.1|ENSG00000262089.1|ENSG00000108839.7|ENSG00000262089.1|ENSG00000108839.7|ENSG00000215067.5|ENSG00000267047.1|ENSG00000262089.1|ENSG00000262089.1|ENSG00000108839.7|ENSG00000108839.7|ENSG00000108839.7|ENSG00000262089.1|ENSG00000215067.5|ENSG00000108839.7|ENSG00000262089.1|ENSG00000262089.1|ENSG00000262089.1|ENSG00000262089.1|ENSG00000262089.1|ENSG00000215067.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.3791 0.1853 0.2295 0.4535 0.4825 0.3291 0.4189 0.3887 0.4471 0.3421 0.2 0.2596 0.4633 0.4875 0.3392 0.4090 0.3900 hom 7767.46 250 17 6904934 . A G 7767.46 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.845;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.6363;MQ=58.60;MQ0=0;MQRankSum=1.690;QD=31.07;ReadPosRankSum=1.677;VQSLOD=4.8207;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7733,568,0 17 6913652 6913652 G A exonic ALOX12 synonymous SNV ALOX12:NM_000697:exon14:c.G1902A:p.L634L 0.12 0.061 0.088 0.13 0.086 0.24 0.1149 0.0660 0.1102 0.1512 0.0566 0.0989 0.1115 0.2177 0.089 0.066 0.1 0.15 0.033 rs312462 COSM4000285 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1129 0.0651 0.1019 0.1459 0.1496 0.0556 0.0972 0.1121 0.2160 0.0867 0.0660 0.0990 0.1656 0.1677 0.0547 0.0935 0.1127 hom 3358.10 102 17 6913652 . G A 3358.10 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.77;MQ0=0;QD=32.92;VQSLOD=9.7407;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3358,265,0 17 6919093 6919093 T C exonic C17orf49 synonymous SNV C17orf49:NM_001142798:exon3:c.T117C:p.G39G,C17orf49:NM_174893:exon3:c.T117C:p.G39G 0.76 0.56 0.59 0.88 0.86 0.91 0.8132 0.5975 0.5179 0.8826 0.7963 0.8623 0.8311 0.9260 0.77 0.61 0.85 0.8 0.8 rs14309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8040 0.5903 0.5427 0.8945 0.8813 0.7877 0.8616 0.8121 0.9238 0.7635 0.6008 0.5943 0.8510 0.8672 0.7786 0.8480 0.8102 hom 2005.57 63 17 6919093 . T C 2005.57 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;QD=31.83;VQSLOD=9.7558;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2039,162,0 17 6928019 6928019 - CAG exonic BCL6B nonframeshift insertion BCL6B:NM_181844:exon4:c.701_702insCAG:p.S244_E245insS 0.66 0.49 0.56 0.72 0.8 0.76 0.5955 0.4440 0.4169 0.6380 0.5845 0.6431 0.6069 0.6276 0.57 0.42 0.64 . . rs72254884 COSM983708;COSM983707 1(haematopoietic_and_lymphoid_tissue);21(upper_aerodigestive_tract);5(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5744 0.4590 0.4457 0.5918 0.5880 0.5897 0.6197 0.5750 0.6053 0.7777 0.6083 0.5687 0.8785 0.8227 0.7216 0.8923 0.8131 hom 1417.31 55 17 6928019 . C CCAG 1417.31 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.007;DP=55;FS=5.689;HRun=0;HaplotypeScore=188.7951;MQ=60.03;MQ0=0;MQRankSum=-0.401;QD=25.77;ReadPosRankSum=-1.472;set=variant2 GT:AD:DP:GQ:PL 1/1:29,25:55:22.23:1459,22,0 17 6929924 6929924 T C exonic BCL6B synonymous SNV BCL6B:NM_181844:exon6:c.T1038C:p.H346H 0.96 0.86 0.99 1. 1. 0.99 0.9877 0.8807 0.9936 0.9961 0.9995 0.9984 0.9956 0.9946 0.96 0.89 1. 0.96 1. rs379478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9894 0.8780 0.9926 0.9935 0.9966 0.9996 0.9988 0.9922 0.9940 0.9654 0.8823 0.9857 0.9868 0.9969 0.9997 0.9991 0.9908 hom 6134.99 189 17 6929924 . T C 6134.99 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6714;MQ=59.68;MQ0=0;QD=32.46;VQSLOD=9.0732;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,188:189:99:6134,484,0 17 6942108 6942108 C T exonic SLC16A13 synonymous SNV SLC16A13:NM_201566:exon3:c.C981T:p.S327S 0.35 0.047 0.4 0.51 0.6 0.3 0.5024 0.1132 0.4071 0.5089 0.6923 0.5996 0.5664 0.3364 0.44 0.13 0.6 0.35 0.61 rs11078663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5091 0.1069 0.4206 0.4913 0.5054 0.6849 0.6031 0.5135 0.3437 0.4765 0.1297 0.4293 0.4967 0.5161 0.7006 0.6186 0.5622 het 2317.40 191 17 6942108 . C T 2317.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.932;DP=191;Dels=0.00;FS=3.345;HRun=0;HaplotypeScore=5.1427;MQ=59.10;MQ0=0;MQRankSum=1.125;QD=12.13;ReadPosRankSum=-0.463;VQSLOD=4.9816;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,88:191:99:2347,0,2666 17 6943266 6943266 G A exonic SLC16A13 synonymous SNV SLC16A13:NM_201566:exon4:c.G1266A:p.G422G 0.56 0.42 0.48 0.78 0.67 0.47 0.6160 0.4483 0.4588 0.7740 0.7198 0.6681 0.6634 0.4939 0.6 0.46 0.67 0.58 0.67 rs4796576 COSM3766161 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6149 0.4434 0.4757 0.5920 0.7720 0.7130 0.6701 0.6078 0.5025 0.6191 0.4538 0.4940 0.5833 0.7618 0.7289 0.6806 0.6360 het 2538.67 183 17 6943266 . G A 2538.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.845;DP=183;DS;Dels=0.00;FS=2.828;HRun=0;HaplotypeScore=5.4508;MQ=59.31;MQ0=0;MQRankSum=-0.638;QD=13.87;ReadPosRankSum=-0.220;VQSLOD=5.0717;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,100:183:99:2569,0,2230 17 7129840 7129840 T C exonic DVL2 synonymous SNV DVL2:NM_004422:exon14:c.A1662G:p.Q554Q 0.52 0.42 0.5 0.47 0.62 0.62 0.6011 0.4323 0.4754 0.4813 0.6732 0.6419 0.6608 0.6651 0.56 0.44 0.63 0.48 0.65 rs35594616 COSM5021920 1(bone);1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5993 0.4316 0.4891 0.5907 0.4840 0.6690 0.6427 0.6194 0.6608 0.5711 0.4401 0.5060 0.5733 0.4969 0.6609 0.6357 0.6074 hom 2109.78 61 17 7129840 . T C 2109.78 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=34.59;VQSLOD=9.5715;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:2143,169,0 17 7132556 7132556 C T exonic DVL2 synonymous SNV DVL2:NM_004422:exon8:c.G855A:p.Q285Q 0.66 0.85 0.56 0.64 0.52 0.62 0.5769 0.8148 0.5278 0.6507 0.5466 0.5280 0.5991 0.6312 0.61 0.8 0.51 0.69 0.56 rs222837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5708 0.8168 0.5355 0.5535 0.6523 0.5395 0.5245 0.5751 0.6367 0.6056 0.8041 0.5561 0.5695 0.6592 0.5433 0.5079 0.5184 het 2403.71 196 17 7132556 . C T 2403.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.668;DP=196;Dels=0.00;FS=1.117;HRun=1;HaplotypeScore=2.8232;MQ=59.12;MQ0=0;MQRankSum=0.756;QD=12.26;ReadPosRankSum=-0.510;VQSLOD=6.6771;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,92:196:99:2434,0,2828 17 7133162 7133162 G A exonic DVL2 synonymous SNV DVL2:NM_004422:exon5:c.C621T:p.S207S 0.45 0.3 0.45 0.47 0.51 0.58 0.5118 0.3403 0.4368 0.4783 0.5524 0.5297 0.5673 0.5987 0.46 0.34 0.52 0.37 0.45 rs222836 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5135 0.3374 0.4509 0.4919 0.4803 0.5391 0.5332 0.5229 0.6041 0.4690 0.3462 0.4653 0.4901 0.4988 0.5292 0.5211 0.5010 hom 3145.34 99 17 7133162 . G A 3145.34 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.15;MQ0=0;QD=31.77;VQSLOD=9.3247;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3178,271,0 17 7133609 7133609 G A exonic DVL2 synonymous SNV DVL2:NM_004422:exon3:c.C405T:p.S135S 0.33 0.27 0.27 0.39 0.38 0.37 0.3501 0.2717 0.1648 0.3700 0.4392 0.3715 0.3711 0.3953 0.33 0.26 0.36 0.32 0.41 rs2074216 COSM4130555 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3482 0.2700 0.1817 0.3767 0.3797 0.4302 0.3699 0.3534 0.4026 0.3446 0.2716 0.1878 0.3874 0.4021 0.4201 0.3705 0.3564 het 2804.16 222 17 7133609 . G A 2804.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.991;DP=222;DS;Dels=0.00;FS=0.496;HRun=2;HaplotypeScore=2.7256;MQ=59.62;MQ0=0;MQRankSum=-0.086;QD=12.63;ReadPosRankSum=0.301;VQSLOD=6.6461;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,109:222:99:2834,0,3299 17 7154534 7154534 G A exonic CTDNEP1 synonymous SNV CTDNEP1:NM_001143775:exon1:c.C82T:p.L28L,CTDNEP1:NM_015343:exon2:c.C82T:p.L28L 0.7 0.89 0.59 0.65 0.63 0.64 0.6607 0.8527 0.5588 0.6522 0.6887 0.6443 0.7050 0.6714 0.69 0.84 0.62 0.73 0.55 rs414206 COSM437281 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6491 0.8505 0.5637 0.6390 0.6531 0.6698 0.6372 0.6646 0.6703 0.6985 0.8422 0.6017 0.6589 0.6611 0.6675 0.6355 0.6478 hom 895.68 34 17 7154534 . G A 895.68 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55.29;MQ0=0;QD=26.34;VQSLOD=7.4057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:69.22:929,69,0 17 7155861 7155861 G A exonic ELP5 nonsynonymous SNV ELP5:NM_203414:exon1:c.G40A:p.E14K,ELP5:NM_015362:exon2:c.G40A:p.E14K,ELP5:NM_203413:exon2:c.G40A:p.E14K,ELP5:NM_203415:exon2:c.G40A:p.E14K 0.081 0.0068 0.049 0.037 0.14 0.18 0.1322 0.0234 0.0490 0.0336 0.2197 0.1460 0.1691 0.2184 0.1 0.028 0.14 0.076 0.16 rs2521988 . . . . . . . . . . . . . 0.258 0.243 T 0.0 0.026 B 0.0 0.013 B 0.000 0.003 N 1 0.090 P 0.55 0.145 N 0.88 0.478 T 0.03 0.098 N 0.044 0.455 -1.097 0.045 T 0.000 0.002 T . . . -1.904 0.009 0.002 0.725 0.097 0.008 0.032 N c -2.059 -2.205 1.0 0.983 0.442 0.072 0 -6.95 0.015 -3.154 0.006 -0.940 0.025 0.000 0.063 0.000 0.016 1.568 0.024 . ENSG00000006047.8|ENSG00000006047.8|ENSG00000006047.8|ENSG00000170291.10|ENSG00000006047.8 Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid 0.1262 0.0198 0.0477 0.1265 0.0335 0.1984 0.1401 0.1241 0.2149 0.1150 0.0252 0.0537 0.1225 0.0438 0.1935 0.1561 0.1769 het 135.05 23 17 7155861 . G A 135.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.762;DP=23;Dels=0.00;FS=2.105;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.493;QD=5.87;ReadPosRankSum=0.775;VQSLOD=4.6293;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,8:23:99:165,0,425 17 7163739 7163739 A G exonic CLDN7 nonsynonymous SNV CLDN7:NM_001307:exon4:c.T590C:p.V197A,CLDN7:NM_001185022:exon5:c.T590C:p.V197A 0.7 0.9 0.59 0.65 0.64 0.64 0.6591 0.8548 0.5588 0.6527 0.6780 0.6419 0.7013 0.6692 0.7 0.84 0.62 0.73 0.63 rs4562 COSM5442376 1(oesophagus);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.505 0.119 N 1 0.192 P -1.555 0.005 N -1.75 0.835 D 1.08 0.013 N 0.012 0.006 -0.952 0.406 T 0.000 0.000 T . . . -0.069 0.087 1.971 0.670 0.080 0.016 0.051 N c -1.102 -0.965 1.000 0.747 0.672 0.522 0 4.92 0.640 1.092 0.303 0.104 0.200 0.003 0.159 0.959 0.439 6.612 0.218 . ENSG00000170291.10|ENSG00000175826.7|ENSG00000181885.14|ENSG00000170291.10|ENSG00000181885.14|ENSG00000170291.10|ENSG00000170291.10|ENSG00000072778.15|ENSG00000175826.7|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000181885.14|ENSG00000175826.7|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000181885.14|ENSG00000175826.7|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000181885.14|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000175826.7|ENSG00000170291.10|ENSG00000181885.14|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000181885.14|ENSG00000170291.10|ENSG00000170291.10|ENSG00000170291.10|ENSG00000175826.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.6526 0.8551 0.5701 0.6408 0.6560 0.6711 0.6400 0.6657 0.6732 0.7001 0.8481 0.6019 0.6589 0.6602 0.6693 0.6353 0.6442 hom 4423.95 144 17 7163739 . A G 4423.95 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5367;MQ=58.15;MQ0=0;QD=30.72;VQSLOD=7.8761;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4423,343,0 17 7187123 7187123 T C exonic SLC2A4 synonymous SNV SLC2A4:NM_001042:exon4:c.T390C:p.N130N 0.7 0.91 0.61 0.62 0.61 0.64 0.6525 0.8606 0.5858 0.6401 0.6374 0.6340 0.6828 0.6540 0.7 0.84 0.62 0.72 0.64 rs5435 COSM5426493 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6463 0.8603 0.5945 0.6376 0.6447 0.6266 0.6336 0.6603 0.6580 0.6935 0.8543 0.6196 0.6623 0.6402 0.6319 0.6276 0.6481 hom 3196.32 108 17 7187123 . T C 3196.32 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.83;MQ0=0;QD=29.60;VQSLOD=8.1163;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3229,262,0 17 7217463 7217463 T C exonic GPS2 synonymous SNV GPS2:NM_004489:exon5:c.A333G:p.L111L 0.57 0.46 0.65 0.68 0.52 0.63 0.5535 0.4580 0.7070 0.6649 0.6052 0.5120 0.5452 0.5957 0.51 0.47 0.53 0.58 0.61 rs2292064 COSM437290 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5627 0.4651 0.6927 0.4427 0.6579 0.6034 0.5168 0.5456 0.5945 0.5290 0.4695 0.6742 0.4404 0.6526 0.5989 0.5265 0.5460 het 2807.88 199 17 7217463 . T C 2807.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.922;DP=199;DS;Dels=0.00;FS=2.781;HRun=0;HaplotypeScore=1.8947;MQ=59.91;MQ0=0;MQRankSum=0.503;QD=14.11;ReadPosRankSum=-0.747;VQSLOD=6.4859;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:98,101:199:99:2838,0,2701 17 7221385 7221385 G A exonic NEURL4 synonymous SNV NEURL4:NM_001005408:exon25:c.C4053T:p.P1351P,NEURL4:NM_032442:exon25:c.C4059T:p.P1353P 0.71 0.6 0.75 0.93 0.57 0.73 0.6311 0.5894 0.7997 0.9348 0.6361 0.5583 0.6267 0.6718 0.59 0.6 0.58 0.73 0.66 rs1127440 COSM437294;COSM437295 1(bone);1(breast);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6407 0.5994 0.7823 0.5466 0.9354 0.6348 0.5612 0.6150 0.6688 0.6100 0.6000 0.7745 0.5563 0.9383 0.6355 0.5666 0.6004 het 2533.99 188 17 7221385 . G A 2533.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.566;DP=188;Dels=0.00;FS=3.356;HRun=0;HaplotypeScore=2.9127;MQ=59.42;MQ0=0;MQRankSum=0.490;QD=13.48;ReadPosRankSum=-0.266;VQSLOD=6.4026;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,88:188:99:2564,0,2576 17 7230845 7230845 G T exonic NEURL4 nonsynonymous SNV NEURL4:NM_001005408:exon2:c.C641A:p.P214H,NEURL4:NM_032442:exon2:c.C641A:p.P214H 0.13 0.0038 0.19 0.11 0.19 0.24 0.1901 0.0366 0.2116 0.1074 0.1124 0.2078 0.2320 0.2825 0.16 0.043 0.21 0.098 0.2 rs11655578 COSM4130571;COSM4130572 1(pancreas);2(thyroid) . . . . . . . . . . . 0.01 0.574 D 1.0 0.899 D 0.996 0.832 D 0.005 0.327 N 0.033 0.385 P 1.355 0.339 L 1.43 0.330 T -1.42 0.350 N 0.132 0.434 -1.147 0.011 T 0.000 0.000 T . . . 4.554 0.610 24.4 0.996 0.712 0.974 0.742 D c 0.574 0.584 1.000 0.747 0.732 0.924 0 5.49 0.809 2.837 0.476 0.949 0.536 0.997 0.399 0.978 0.483 15.22 0.729 . . . 0.1882 0.0347 0.2125 0.2263 0.1108 0.1133 0.2077 0.1935 0.2526 0.1378 0.0404 0.2333 0.23 0.1184 0.1201 0.1920 0.1616 het 1115.98 90 17 7230845 . G T 1115.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.789;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6624;MQ=58.86;MQ0=0;MQRankSum=0.061;QD=12.40;ReadPosRankSum=-1.177;VQSLOD=5.5698;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,42:90:99:1146,0,1412 17 7254315 7254315 G A exonic ACAP1 nonsynonymous SNV ACAP1:NM_014716:exon21:c.G2119A:p.A707T 0.043 0.015 0.039 0.036 0.072 0.06 0.0701 0.0250 0.0349 0.0345 0.0967 0.0873 0.0968 0.0600 0.065 0.027 0.085 0.033 0.057 rs35985803 COSM3766175 1(liver) . . . . . . . . . . . 0.518 0.073 T 0.0 0.026 B 0.001 0.040 B 0.279 0.150 N 0.994 0.278 N 0.075 0.083 N -0.72 0.730 T -0.21 0.103 N 0.031 0.084 -1.108 0.032 T 0.010 0.037 T . . . 1.258 0.216 12.05 0.952 0.259 0.543 0.293 D c -0.898 -0.777 1.000 0.747 0.726 0.872 0 0.24 0.147 0.305 0.189 0.124 0.212 0.998 0.411 0.997 0.653 7.096 0.243 . . . 0.0691 0.0226 0.0390 0.0934 0.0355 0.0910 0.0846 0.0828 0.0615 0.0628 0.0255 0.0574 0.0927 0.0315 0.0836 0.0816 0.0786 het 710.08 74 17 7254315 . G A 710.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.647;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=57.93;MQ0=0;MQRankSum=-0.100;QD=9.60;ReadPosRankSum=-2.746;VQSLOD=5.2893;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,29:74:99:740,0,1155 17 7286326 7286326 T A exonic TNK1 synonymous SNV TNK1:NM_001251902:exon2:c.T81A:p.L27L,TNK1:NM_003985:exon2:c.T81A:p.L27L 0.38 0.3 0.33 0.26 0.45 0.6 0.4243 0.3238 0.2969 0.2625 0.3869 0.4444 0.4033 0.5923 0.41 0.31 0.46 0.41 . rs1554948 COSM4000294 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4181 0.3195 0.3010 0.3708 0.2609 0.3894 0.4543 0.3980 0.5908 0.3995 0.3308 0.3091 0.3311 0.2776 0.3780 0.4623 0.4283 het 1571.47 86 17 7286326 . T A 1571.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.131;DP=86;Dels=0.00;FS=12.376;HRun=0;HaplotypeScore=1.9926;MQ=60.00;MQ0=0;MQRankSum=0.076;QD=18.27;ReadPosRankSum=-0.103;VQSLOD=3.3958;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,54:86:99:1601,0,865 17 7292107 7292107 G A exonic TNK1 nonsynonymous SNV TNK1:NM_001251902:exon12:c.G1792A:p.V598M,TNK1:NM_003985:exon12:c.G1777A:p.V593M 0.73 0.45 0.79 0.77 0.94 0.79 0.8661 0.5386 0.7690 0.7625 0.8776 0.9458 0.9042 0.8260 0.82 0.55 0.95 0.7 . rs6503018 COSM4130593 1(thyroid) . . . . . . . . . . . . . . 0.208 0.282 B 0.179 0.341 B 0.102 0.198 N 0.002 0.446 P 1.8 0.476 L -1.63 0.825 D . . . 0.078 0.089 -1.020 0.236 T 0.000 0.000 T . . . 1.855 0.284 15.32 0.997 0.809 0.940 0.596 D c -0.424 -0.413 0.790 0.240 0.635 0.413 0 0.321 0.151 1.637 0.365 0.076 0.183 1.000 0.715 0.829 0.346 4.551 0.114 . . . 0.8612 0.5087 0.7715 0.9778 0.7628 0.8733 0.9478 0.8877 0.8199 0.7998 0.5251 0.7488 0.9603 0.7739 0.8575 0.9419 0.8990 hom 557.98 21 17 7292107 . G A 557.98 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=26.57;VQSLOD=6.6250;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:21:48.14:591,48,0 17 7318061 7318061 T C exonic NLGN2 synonymous SNV NLGN2:NM_020795:exon4:c.T738C:p.S246S 0.079 0.014 0.079 0.001 0.14 0.18 0.1352 0.0368 0.0659 0.0008 0.1436 0.1734 0.1542 0.1571 0.13 0.042 0.17 0.11 0.22 rs78355381 COSM3766178 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1337 0.0342 0.0728 0.1866 0.0009 0.1421 0.1723 0.1464 0.1582 0.1166 0.0353 0.0849 0.18 0.0018 0.1464 0.1676 0.1538 het 1482.30 135 17 7318061 . T C 1482.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.122;DP=135;Dels=0.00;FS=2.225;HRun=0;HaplotypeScore=1.6671;MQ=59.21;MQ0=0;MQRankSum=0.842;QD=10.98;ReadPosRankSum=0.680;VQSLOD=5.9837;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,62:135:99:1512,0,1909 17 7318396 7318396 C T exonic NLGN2 synonymous SNV NLGN2:NM_020795:exon5:c.C966T:p.S322S 0.77 0.49 0.89 0.95 0.85 0.78 0.8283 0.5244 0.9232 0.9405 0.8583 0.8574 0.8233 0.7633 0.74 0.53 0.85 0.73 0.78 rs2241233 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8393 0.5172 0.9206 0.8818 0.9467 0.8603 0.8561 0.8413 0.7606 0.7699 0.5202 0.9177 0.8907 0.9530 0.8756 0.8552 0.8405 hom 2503.65 84 17 7318396 . C T 2503.65 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3204;MQ=60.00;MQ0=0;QD=29.81;VQSLOD=8.0148;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:84:99:2537,202,0 17 7329134 7329134 G A exonic C17orf74 nonsynonymous SNV C17orf74:NM_175734:exon1:c.G127A:p.V43M 0.12 0.14 0.086 0.002 0.15 0.19 0.1511 0.1365 0.0747 0.0007 0.1465 0.1851 0.1578 0.1555 0.16 0.13 0.18 0.14 0.24 rs72842820 COSM3766179 1(liver) . . . . . . . . . . . 0.446 0.091 T 0.749 0.413 P 0.061 0.254 B 0.378 0.134 N 1 0.090 P 0.72 0.188 N 0.44 0.566 T -0.13 0.090 N 0.086 0.081 -1.095 0.047 T 0.000 0.001 T . . . 1.993 0.300 16.17 0.992 0.556 0.026 0.070 N c -1.061 -1.197 0.083 0.159 0.554 0.283 0 -3.82 0.040 -1.593 0.022 -0.427 0.059 0.000 0.063 0.149 0.205 10.288 0.426 Spermatid maturation protein 1\x2c N-terminal ENSG00000170175.6|ENSG00000170175.6|ENSG00000170175.6|ENSG00000170175.6|ENSG00000174282.7|ENSG00000170175.6|ENSG00000170175.6|ENSG00000170175.6|ENSG00000170175.6|ENSG00000262624.1|ENSG00000263301.1|ENSG00000161958.6|ENSG00000181284.2|ENSG00000170175.6|ENSG00000259224.1|ENSG00000170175.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Testis|Whole_Blood 0.1472 0.1336 0.0829 0.2092 0.0006 0.1453 0.1834 0.1630 0.1538 0.1479 0.1320 0.1038 0.2285 0.0012 0.1523 0.1717 0.1663 het 3233.06 250 17 7329134 . G A 3233.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.805;DP=250;DS;Dels=0.00;FS=3.585;HRun=0;HaplotypeScore=2.8893;MQ=59.49;MQ0=0;MQRankSum=0.452;QD=12.93;ReadPosRankSum=-0.138;VQSLOD=6.0477;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3266,0,3716 17 7329632 7329632 T G exonic C17orf74 nonsynonymous SNV C17orf74:NM_175734:exon3:c.T322G:p.S108A 0.34 0.28 0.37 0.043 0.6 0.46 0.5045 0.3356 0.2859 0.0373 0.5174 0.6416 0.5189 0.4418 0.55 0.35 0.64 0.35 0.66 rs13290 . . . . . . . . . . . . . 0.0 0.912 D 0.99 0.615 D 0.978 0.725 D 0.004 0.346 N 1.000 0.422 P 1.75 0.456 L 1.28 0.360 T -1.53 0.372 N 0.086 0.081 -0.956 0.400 T 0.000 0.000 T . . . 3.221 0.446 22.7 0.965 0.296 0.197 0.206 N c -0.115 -0.322 0.005 0.108 0.403 0.052 0 3.18 0.355 0.609 0.238 0.896 0.411 0.004 0.165 0.069 0.175 8.133 0.300 Spermatid maturation protein 1\x2c N-terminal ENSG00000170175.6|ENSG00000170175.6|ENSG00000170175.6|ENSG00000170175.6|ENSG00000184560.3 Adipose_Subcutaneous|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Testis 0.4975 0.3284 0.3058 0.5959 0.0380 0.5204 0.6493 0.5349 0.4427 0.4959 0.3344 0.3525 0.5927 0.0432 0.5347 0.6314 0.5666 hom 3834.69 144 17 7329632 . T G 3834.69 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6507;MQ=59.13;MQ0=0;QD=26.63;VQSLOD=7.3269;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:144:99:3809,334,0 17 7330264 7330264 G A exonic C17orf74 synonymous SNV C17orf74:NM_175734:exon3:c.G954A:p.T318T 0.0002 . . . 0.001 . 0.0002 0.0001 0.0003 0 0 0.0002 0 0.0001 0.0003 . 0.0005 . . rs376932153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 6.691e-05 0.0004 0 0 0 0.0003 0.0004 6.499e-05 0.0002 0 0 0 0 0 0.0004 0 het 1107.28 58 17 7330264 . G A 1107.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.451;DP=58;Dels=0.00;FS=1.108;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.197;QD=19.09;ReadPosRankSum=0.215;VQSLOD=3.9700;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,40:58:99:1137,0,486 17 7366651 7366651 C G exonic ZBTB4 nonsynonymous SNV ZBTB4:NM_001128833:exon4:c.G1650C:p.M550I,ZBTB4:NM_020899:exon4:c.G1650C:p.M550I 0.19 0.12 0.23 0.19 0.16 0.27 0.1985 0.1625 0.2584 0.2300 0.3002 0.1661 0.2453 0.2589 0.14 0.13 0.14 0.11 0.082 rs871990 . . . . . . . . . . . . . 0.024 0.477 D 0.0 0.026 B 0.0 0.013 B 0.972 0.078 U 1 0.090 P 0 0.065 N 3.9 0.035 T -0.05 0.078 N 0.026 0.030 -0.895 0.485 T 0.000 0.000 T . . . -1.636 0.014 0.002 0.777 0.116 0.021 0.061 N c -1.688 -1.773 1.000 0.747 0.672 0.522 0 -9.81 0.004 -2.478 0.011 -1.369 0.012 0.000 0.063 0.426 0.258 4.054 0.092 . ENSG00000170175.6 Testis 0.1768 0.1364 0.2137 0.0984 0.2011 0.2421 0.1455 0.1650 0.2352 0.1738 0.1409 0.2243 0.0993 0.1874 0.2549 0.1683 0.2204 het 268.94 18 17 7366651 . C G 268.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=0.044;QD=14.94;ReadPosRankSum=0.755;VQSLOD=6.1024;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,10:18:99:299,0,178 17 7385454 7385454 G A exonic SLC35G6 nonsynonymous SNV SLC35G6:NM_001102614:exon2:c.G151A:p.A51T 0.19 0.12 0.24 0.19 0.16 0.26 0.1828 0.1365 0.2234 0.2173 0.3221 0.1542 0.2174 0.2234 0.14 0.13 0.15 0.11 . rs3760422 COSM5425414 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.187 0.214 T 0.999 0.764 D 0.997 0.850 D . . . 0.000 0.810 P 1.87 0.498 L 1.64 0.278 T -0.65 0.189 N 0.145 0.171 -1.035 0.187 T 0.000 0.000 T . . . 2.258 0.333 17.89 0.998 0.842 0.641 0.320 D c 0.093 0.027 1.000 0.747 0.403 0.052 0 4.04 0.461 2.723 0.467 1.044 0.665 0.931 0.321 0.703 0.310 11.403 0.489 . ENSG00000170175.6 Testis 0.1854 0.1345 0.2193 0.0988 0.2126 0.3099 0.1511 0.1757 0.2223 0.1856 0.1402 0.2464 0.1033 0.2061 0.3137 0.1758 0.2264 het 1670.80 127 17 7385454 . G A 1670.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.309;DP=127;Dels=0.00;FS=0.822;HRun=0;HaplotypeScore=2.7186;MQ=49.89;MQ0=1;MQRankSum=1.454;QD=13.16;ReadPosRankSum=-0.859;VQSLOD=2.2276;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:64,63:127:99:1701,0,1802 17 7386055 7386055 C T exonic SLC35G6 nonsynonymous SNV SLC35G6:NM_001102614:exon2:c.C752T:p.P251L 0.95 0.82 0.98 1. 1. 0.99 0.9847 0.8418 0.9912 1 1 0.9993 0.9912 0.9964 0.95 0.85 1. 0.85 . rs4491591 COSM4130643 1(thyroid) . . . . . . . . . . . 0.265 0.163 T 0.0 0.026 B 0.0 0.013 B . . . 0.000 0.588 P -1.935 0.002 N 0.79 0.491 T 1.44 0.008 N 0.086 0.081 -0.987 0.335 T 0.000 0.000 T . . . 1.357 0.227 12.56 0.481 0.039 0.012 0.041 N c -1.028 -0.811 1.000 0.458 0.609 0.351 0 4.06 0.464 1.657 0.368 0.052 0.162 0.997 0.399 0.168 0.210 4.561 0.115 . . . 0.9875 0.8372 0.9904 0.9978 1 0.9999 0.9993 0.9921 0.9966 0.9552 0.8452 0.9881 1 1 1 0.9987 0.9929 hom 5146.73 163 17 7386055 . C T 5146.73 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4018;MQ=47.75;MQ0=0;QD=31.58;VQSLOD=3.4004;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,162:163:99:5145,418,0 17 7399866 7399866 G A exonic POLR2A synonymous SNV POLR2A:NM_000937:exon4:c.G471A:p.G157G 0.17 0.22 0.099 0.028 0.18 0.29 0.1973 0.2093 0.1036 0.0356 0.1433 0.2173 0.1839 0.2818 0.21 0.21 0.21 0.16 0.3 rs2301609 COSM4000299 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1900 0.2050 0.1097 0.2268 0.0355 0.1499 0.2150 0.1985 0.2814 0.1815 0.1956 0.1271 0.2384 0.0247 0.1568 0.1977 0.1837 het 4015.24 247 17 7399866 . G A 4015.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.385;DP=247;DS;Dels=0.00;FS=0.978;HRun=0;HaplotypeScore=1.5774;MQ=59.11;MQ0=0;MQRankSum=-1.000;QD=16.26;ReadPosRankSum=-0.643;VQSLOD=5.6856;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:119,128:247:99:3395,0,3260 17 7400137 7400137 T C exonic POLR2A synonymous SNV POLR2A:NM_000937:exon5:c.T592C:p.L198L 0.97 0.9 0.99 1. 1. 1. 0.9930 0.9233 0.9965 1 1 0.9999 0.9978 0.9998 0.97 0.93 1. 0.96 1. rs9898024 COSM4130648 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9943 0.9205 0.9961 1 1 1 0.9998 0.9973 0.9998 0.9791 0.9275 0.9952 1 1 1 0.9995 0.9969 hom 3165.33 101 17 7400137 . T C 3165.33 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7219;MQ=58.71;MQ0=0;QD=31.34;VQSLOD=8.9982;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3198,244,0 17 7402600 7402600 T C exonic POLR2A synonymous SNV POLR2A:NM_000937:exon10:c.T1461C:p.S487S 0.74 0.56 0.87 0.92 0.77 0.66 0.7569 0.6004 0.8768 0.9135 0.8281 0.7507 0.7797 0.6847 0.71 0.61 0.75 0.72 0.66 rs2228129 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7668 0.5973 0.8688 0.7287 0.9113 0.8237 0.7518 0.7663 0.6839 0.7382 0.6146 0.8438 0.7351 0.9190 0.8154 0.7643 0.7757 het 1142.08 90 17 7402600 . T C 1142.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.335;DP=90;Dels=0.00;FS=0.814;HRun=0;HaplotypeScore=3.7357;MQ=59.74;MQ0=0;MQRankSum=-0.044;QD=12.69;ReadPosRankSum=-0.391;VQSLOD=6.1930;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,46:90:99:1172,0,1195 17 7404107 7404107 T C exonic POLR2A synonymous SNV POLR2A:NM_000937:exon11:c.T1821C:p.S607S 0.97 0.9 0.99 1. 1. 1. 0.9930 0.9238 0.9967 1 1 0.9999 0.9978 0.9998 0.97 0.93 1. 0.96 1. rs7217707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9944 0.9207 0.9962 1 1 1 0.9998 0.9973 0.9998 0.9791 0.9273 0.9952 1 1 1 0.9995 0.9969 hom 4658.23 148 17 7404107 . T C 4658.23 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4317;MQ=59.75;MQ0=0;QD=31.47;VQSLOD=8.0174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4658,364,0 17 7404991 7404991 T C exonic POLR2A synonymous SNV POLR2A:NM_000937:exon14:c.T2292C:p.N764N 0.91 0.77 0.97 0.95 0.96 0.99 0.9561 0.8010 0.9800 0.9455 0.9717 0.9682 0.9648 0.9869 0.91 0.81 0.96 0.88 0.95 rs2228130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9588 0.7938 0.9779 0.9559 0.9438 0.9737 0.9673 0.9645 0.9863 0.9179 0.8030 0.9726 0.9735 0.9395 0.9725 0.9623 0.9644 hom 4610.83 149 17 7404991 . T C 4610.83 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;QD=30.95;VQSLOD=9.3594;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4610,352,0 17 7405937 7405937 C T exonic POLR2A synonymous SNV POLR2A:NM_000937:exon16:c.C2673T:p.Y891Y 0.18 0.11 0.23 0.19 0.16 0.23 0.1798 0.1359 0.2196 0.2090 0.3213 0.1536 0.2141 0.2114 0.14 0.13 0.15 0.12 0.11 rs2071504 COSM5021921 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1825 0.1326 0.2166 0.0968 0.2033 0.3084 0.1508 0.1738 0.2115 0.1841 0.1373 0.2458 0.0993 0.1972 0.3123 0.1755 0.2255 het 1914.74 137 17 7405937 . C T 1914.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.328;DP=137;Dels=0.00;FS=8.216;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=0.366;QD=13.98;ReadPosRankSum=-1.137;VQSLOD=4.7492;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,76:137:99:1945,0,1526 17 7411770 7411770 C T exonic POLR2A synonymous SNV POLR2A:NM_000937:exon20:c.C3441T:p.S1147S 0.16 0.17 0.098 0.023 0.18 0.29 0.2549 0.2112 0.1599 0.0535 0.2234 0.2849 0.2296 0.3095 0.19 0.16 0.21 0.15 0.24 rs2228132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1886 0.1666 0.1099 0.2285 0.0341 0.1532 0.2189 0.1967 0.2788 0.1714 0.1592 0.1277 0.2384 0.0210 0.1569 0.1985 0.1820 het 513.98 32 17 7411770 . C T 513.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.277;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7226;MQ=58.83;MQ0=0;MQRankSum=-0.019;QD=16.06;ReadPosRankSum=-2.044;VQSLOD=5.1205;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,20:32:99:544,0,259 17 7460517 7460517 G C exonic TNFSF12 synonymous SNV TNFSF12:NM_003809:exon7:c.G600C:p.A200A 0.55 0.43 0.62 0.65 0.51 0.6 0.5437 0.4528 0.6573 0.6084 0.5137 0.5204 0.5232 0.5945 0.5 0.45 0.52 0.42 0.43 rs3803798 COSM292476 1(haematopoietic_and_lymphoid_tissue);3(liver);1(thyroid);1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5484 0.4510 0.6532 0.6044 0.6055 0.5150 0.5122 0.5440 0.5881 0.5037 0.4590 0.6575 0.6556 0.6126 0.5312 0.5009 0.4857 het 1606.12 131 17 7460517 . G C 1606.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.422;DP=131;Dels=0.00;FS=14.934;HRun=1;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=1.774;QD=12.26;ReadPosRankSum=0.298;VQSLOD=3.4082;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,59:131:99:1636,0,1788 17 7460559 7460559 T G exonic TNFSF12 synonymous SNV TNFSF12:NM_003809:exon7:c.T642G:p.G214G 0.98 0.93 0.99 1. 1. 1. 0.9947 0.9422 0.9972 0.9999 1 0.9999 0.9978 0.9999 0.98 0.94 1. 0.96 0.84 rs4968189 COSM3755898 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9957 0.9392 0.9973 1 0.9999 1 0.9998 0.9974 0.9999 0.9847 0.9468 0.9976 1 1 1 0.9996 0.9969 hom 3525.69 103 17 7460559 . T G 3525.69 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=59.73;MQ0=0;QD=34.23;VQSLOD=9.2744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3525,280,0 17 7462969 7462969 A G exonic TNFSF12-TNFSF13;TNFSF13 nonsynonymous SNV TNFSF13:NM_003808:exon2:c.A287G:p.N96S,TNFSF13:NM_172087:exon2:c.A287G:p.N96S,TNFSF13:NM_172088:exon2:c.A287G:p.N96S,TNFSF12-TNFSF13:NM_172089:exon7:c.A527G:p.N176S 0.56 0.27 0.58 0.65 0.77 0.63 0.6949 0.3487 0.5558 0.6315 0.7370 0.7840 0.7144 0.6636 0.65 0.38 0.78 0.59 0.74 rs3803800 COSM4130672;COSM4130671 1(thyroid) . . . . . IgA nephropathy 0.83 . 22197929 rs3803800 9E-11 0.332 0.130 T 0.002 0.194 B 0.005 0.205 B 0.977 0.081 N 0.999 0.588 P 0.4 0.123 N -4.33 0.972 D 0.47 0.107 N 0.003 0.007 -0.902 0.478 T 0.000 0.000 T . . . 0.739 0.164 9.081 0.959 0.276 0.569 0.300 D c -0.505 -0.371 1.000 0.747 0.653 0.482 0 2.35 0.280 1.143 0.310 1.199 0.960 0.998 0.411 1.000 0.888 6.091 0.191 . . . 0.6966 0.3421 0.5619 0.7962 0.6312 0.7529 0.7861 0.7327 0.6608 0.6415 0.3559 0.5911 0.8013 0.6277 0.7601 0.7756 0.7235 het 531.56 65 17 7462969 . A G 531.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.157;DP=65;Dels=0.00;FS=2.311;HRun=0;HaplotypeScore=2.6607;MQ=57.79;MQ0=0;MQRankSum=0.540;QD=8.18;ReadPosRankSum=-0.063;VQSLOD=4.7811;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,21:65:99:562,0,1100 17 7477938 7477938 G C exonic EIF4A1 synonymous SNV EIF4A1:NM_001204510:exon3:c.G147C:p.A49A,EIF4A1:NM_001416:exon3:c.G147C:p.A49A 0.8 0.64 0.71 0.77 0.97 0.92 0.8952 0.7020 0.6414 0.7878 0.9419 0.9697 0.9273 0.9296 0.88 0.72 0.97 0.84 0.98 rs1057086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8889 0.6942 0.6583 0.9612 0.7865 0.9429 0.9709 0.9141 0.9304 0.8704 0.7031 0.6921 0.9437 0.7816 0.9387 0.9645 0.9450 hom 4091.11 120 17 7477938 . G C 4091.11 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6859;MQ=57.95;MQ0=0;QD=34.09;VQSLOD=5.9375;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:4091,322,0 17 7484101 7484101 C A exonic CD68 nonsynonymous SNV CD68:NM_001040059:exon4:c.C679A:p.Q227K,CD68:NM_001251:exon4:c.C760A:p.Q254K 0.16 0.17 0.12 0.16 0.16 0.17 0.1545 0.1830 0.0903 0.1605 0.0922 0.1678 0.1366 0.1503 0.17 0.18 0.17 0.2 0.25 rs9901673 COSM3766186 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.053 0.388 T 0.012 0.151 B 0.009 0.188 B 0.069 0.216 N 0.879 0.281 P 0.725 0.188 N 1.48 0.317 T -0.58 0.174 N 0.191 0.234 -1.089 0.056 T 0.000 0.001 T . . . 3.173 0.441 22.7 0.723 0.096 0.174 0.196 N c -0.723 -0.735 1.000 0.747 0.646 0.442 0 1.97 0.252 0.846 0.271 -0.007 0.133 0.648 0.279 0.128 0.199 8.490 0.321 . ENSG00000170175.6 Skin_Sun_Exposed_Lower_leg 0.1484 0.1794 0.0951 0.1819 0.1629 0.0909 0.1666 0.1436 0.1486 0.1507 0.1774 0.1100 0.1490 0.1648 0.0860 0.1510 0.1517 het 1804.84 140 17 7484101 . C A 1804.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.510;DP=140;Dels=0.00;FS=0.659;HRun=1;HaplotypeScore=6.1412;MQ=59.30;MQ0=0;MQRankSum=1.672;QD=12.89;ReadPosRankSum=0.993;VQSLOD=4.7940;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,66:140:99:1835,0,1874 17 7484812 7484812 G A exonic CD68 nonsynonymous SNV CD68:NM_001040059:exon6:c.G967A:p.A323T,CD68:NM_001251:exon6:c.G1048A:p.A350T 0.07 0.076 0.052 0.041 0.063 0.11 0.0578 0.0738 0.0310 0.0420 0.0301 0.0534 0.0573 0.1034 0.055 0.068 0.048 0.065 0.057 rs9901675 COSM3766187 1(liver);1(skin) . . . . . Sex hormone-binding globulin levels . .06 22829776 rs9901675 1E-7 0.755 0.035 T 0.001 0.067 B 0.002 0.093 B 0.345 0.139 N 1 0.090 P 0.48 0.132 N 1.39 0.338 T -1.74 0.412 N 0.002 0.000 -0.979 0.353 T 0.001 0.003 T . . . 0.303 0.123 5.723 0.742 0.103 0.019 0.058 N c -1.648 -1.632 1.000 0.747 0.632 0.406 0 -4.98 0.028 -0.657 0.054 -0.517 0.050 0.000 0.063 0.009 0.108 8.918 0.346 Lysosome-associated membrane glycoprotein\x2c conserved site ENSG00000179029.10 Cells_Transformed_fibroblasts 0.0544 0.0705 0.0336 0.0581 0.0426 0.0280 0.0517 0.0520 0.1042 0.0496 0.0696 0.0370 0.0497 0.0420 0.0235 0.0452 0.0561 het 2194.22 169 17 7484812 . G A 2194.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.518;DP=169;DS;Dels=0.00;FS=3.027;HRun=0;HaplotypeScore=2.6000;MQ=59.53;MQ0=0;MQRankSum=-0.310;QD=12.98;ReadPosRankSum=2.546;VQSLOD=5.4489;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,90:169:99:2224,0,2153 17 7490810 7490810 G A exonic MPDU1 nonsynonymous SNV MPDU1:NM_004870:exon7:c.G685A:p.A229T 0.16 0.16 0.12 0.16 0.16 0.17 0.1540 0.1795 0.0897 0.1596 0.0925 0.1675 0.1358 0.1512 0.17 0.18 0.17 0.2 0.23 rs10852891 COSM3766188 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver) Benign|Likely benign not_specified|Congenital_disorder_of_glycosylation RCV000081188.6|RCV000379507.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . 0.213 0.194 T 0.602 0.375 P 0.043 0.229 B . . . 0.335 0.588 P 2.06 0.569 M -0.91 0.750 T -1.66 0.397 N 0.067 0.054 -1.090 0.055 T 0.000 0.002 T . . . 2.709 0.387 20.9 0.995 0.665 0.375 0.255 N c -0.053 -0.090 1.000 0.747 0.707 0.730 0 2.12 0.262 0.903 0.279 0.138 0.222 0.045 0.210 0.800 0.336 5.550 0.163 . ENSG00000170175.6 Skin_Sun_Exposed_Lower_leg 0.1478 0.1759 0.0945 0.1808 0.1609 0.0911 0.1662 0.1437 0.1488 0.1503 0.1753 0.1098 0.15 0.1646 0.0862 0.1513 0.1537 het 2831.40 222 17 7490810 . G A 2831.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.252;DP=222;Dels=0.00;FS=5.586;HRun=0;HaplotypeScore=0.7887;MQ=59.48;MQ0=0;MQRankSum=1.161;QD=12.75;ReadPosRankSum=2.568;VQSLOD=4.8190;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,114:222:99:2861,0,2760 17 7496839 7496839 G A exonic FXR2 synonymous SNV FXR2:NM_004860:exon12:c.C1212T:p.S404S 0.0048 . 0.0043 . 0.008 0.013 0.0190 0.0024 0.0156 0 0.0039 0.0264 0.0139 0.0184 0.0078 0.0012 0.011 0.011 . rs118174079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0102 0.0019 0.0047 0.0388 6.804e-05 0.0023 0.0117 0.0112 0.0153 0.0059 0.0014 0.0036 0.0464 0 0.0011 0.0094 0.0081 het 122.13 10 17 7496839 . G A 122.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.450;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=1.098;QD=12.21;ReadPosRankSum=0.676;VQSLOD=6.0864;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:152,0,134 17 7529902 7529902 G A exonic SAT2 nonsynonymous SNV SAT2:NM_001320846:exon5:c.C511T:p.R171C,SAT2:NM_001320847:exon5:c.C274T:p.R92C,SAT2:NM_001320845:exon6:c.C613T:p.R205C,SAT2:NM_133491:exon6:c.C376T:p.R126C 0.076 0.079 0.056 0.044 0.082 0.12 0.0725 0.0800 0.0361 0.0451 0.0573 0.0741 0.0662 0.1077 0.072 0.073 0.072 0.065 0.066 rs13894 COSM3766189 2(breast);1(liver) . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 0.984 0.745 D 0.000 0.523 D 0.001 0.588 P 1.08 0.273 L 0.91 0.449 T -4.19 0.756 D 0.418 0.475 -0.891 0.489 T 0.015 0.058 T . . . 7.413 0.951 34 0.999 0.986 0.800 0.395 D c 0.482 0.449 1.000 0.747 0.707 0.730 0 4.23 0.492 1.819 0.384 1.048 0.713 1.000 0.715 0.933 0.406 9.666 0.390 Acyl-CoA N-acyltransferase|GNAT domain ENSG00000179029.10 Cells_Transformed_fibroblasts 0.0697 0.0762 0.0392 0.0885 0.0446 0.0538 0.0728 0.0643 0.1091 0.0698 0.0761 0.0430 0.0629 0.0421 0.0531 0.0743 0.0757 het 954.22 109 17 7529902 . G A 954.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.256;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8045;MQ=60.00;MQ0=0;MQRankSum=-1.151;QD=8.75;ReadPosRankSum=-0.249;VQSLOD=3.4231;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,39:109:99:984,0,1975 17 7530271 7530271 C T exonic SAT2 synonymous SNV SAT2:NM_001320845:exon4:c.G531A:p.P177P,SAT2:NM_133491:exon4:c.G294A:p.P98P 0.27 0.018 0.27 0.32 0.39 0.45 0.3547 0.0687 0.2464 0.2816 0.3658 0.3956 0.3678 0.4775 0.28 0.075 0.39 0.2 0.32 rs858520 COSM3755911 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3534 0.0647 0.2570 0.4384 0.2773 0.3672 0.3883 0.3794 0.4766 0.2843 0.0792 0.2804 0.4867 0.2830 0.3839 0.3730 0.3464 het 1158.72 118 17 7530271 . C T 1158.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.084;DP=118;Dels=0.00;FS=5.819;HRun=0;HaplotypeScore=2.7765;MQ=59.43;MQ0=0;MQRankSum=-1.816;QD=9.82;ReadPosRankSum=0.504;VQSLOD=4.1871;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,50:118:99:1189,0,1801 17 7557419 7557419 A G exonic ATP1B2 synonymous SNV ATP1B2:NM_001303263:exon3:c.A150G:p.G50G,ATP1B2:NM_001678:exon4:c.A396G:p.G132G 0.79 0.92 0.81 0.67 0.78 0.73 0.7709 0.8830 0.7626 0.6642 0.7452 0.7751 0.7445 0.7568 0.8 0.87 0.77 0.74 0.75 rs1642763 COSM4130693 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7677 0.8872 0.7732 0.7721 0.6540 0.7495 0.7736 0.7690 0.7563 0.7951 0.8847 0.7697 0.79 0.6629 0.7566 0.7703 0.7541 hom 8320.60 245 17 7557419 . A G 8320.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.008;DP=245;DS;Dels=0.00;FS=3.331;HRun=2;HaplotypeScore=10.0055;MQ=58.89;MQ0=0;MQRankSum=0.582;QD=33.96;ReadPosRankSum=-0.199;VQSLOD=2.4144;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,244:245:99:8285,634,0 17 7592168 7592168 C G exonic WRAP53 nonsynonymous SNV WRAP53:NM_018081:exon1:c.C202G:p.R68G,WRAP53:NM_001143990:exon2:c.C202G:p.R68G,WRAP53:NM_001143991:exon2:c.C202G:p.R68G,WRAP53:NM_001143992:exon2:c.C202G:p.R68G 0.41 0.89 0.24 0.3 0.14 0.26 0.2115 0.7685 0.2061 0.2946 0.0661 0.1172 0.1674 0.2655 0.33 0.74 0.12 0.42 0.11 rs2287499 COSM4418061 3(haematopoietic_and_lymphoid_tissue);4(soft_tissue) Benign|Benign|Benign not_specified|Dyskeratosis_Congenita\x2c_Recessive|Li-Fraumeni_syndrome RCV000253368.1|RCV000278137.1|RCV000354405.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN169374|CN239315|C0085390:ORPHA524:428850001 . . . . . . 0.803 0.031 T 0.0 0.026 B 0.0 0.013 B 0.769 0.096 N 1 0.090 P -0.895 0.014 N 0.68 0.520 T 0.36 0.037 N 0.01 0.017 -1.002 0.292 T 0.000 0.000 T . . . 0.055 0.099 3.133 0.612 0.065 0.003 0.016 N c -1.545 -1.460 1.000 0.747 0.733 0.969 0 1.08 0.194 0.419 0.208 -0.913 0.026 0.003 0.159 0.000 0.016 5.099 0.140 . ENSG00000108947.4|ENSG00000108947.4 Muscle_Skeletal|Thyroid 0.1974 0.7764 0.2025 0.1126 0.3074 0.0606 0.1183 0.1661 0.2617 0.3087 0.7616 0.2148 0.1067 0.3292 0.0658 0.1202 0.1375 het 1955.62 144 17 7592168 . C G 1955.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.815;DP=144;Dels=0.00;FS=2.112;HRun=3;HaplotypeScore=8.2263;MQ=58.12;MQ0=0;MQRankSum=-0.305;QD=13.58;ReadPosRankSum=0.609;VQSLOD=4.1045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,70:144:99:1986,0,1887 17 7592560 7592560 C T exonic WRAP53 synonymous SNV WRAP53:NM_018081:exon2:c.C450T:p.F150F,WRAP53:NM_001143990:exon3:c.C450T:p.F150F,WRAP53:NM_001143991:exon3:c.C450T:p.F150F,WRAP53:NM_001143992:exon3:c.C450T:p.F150F 0.22 0.29 0.17 0.3 0.087 0.23 0.1331 0.2523 0.1550 0.2936 0.0473 0.0760 0.1170 0.2244 0.13 0.24 0.074 0.17 0.057 rs2287498 COSM148182 1(breast);1(stomach);3(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign|Likely benign|Benign not_specified|Li-Fraumeni_syndrome|Dyskeratosis_Congenita\x2c_Recessive RCV000250737.1|RCV000319448.1|RCV000350559.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen CN169374|C0085390:ORPHA524:428850001|CN239315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1295 0.2511 0.1524 0.0787 0.3064 0.0449 0.0761 0.0997 0.2216 0.1404 0.2520 0.1480 0.0563 0.3242 0.0461 0.0831 0.0820 het 1280.46 121 17 7592560 . C T 1280.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.950;DP=121;Dels=0.00;FS=9.154;HRun=2;HaplotypeScore=3.6806;MQ=59.12;MQ0=0;MQRankSum=1.524;QD=10.58;ReadPosRankSum=1.719;VQSLOD=3.8772;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,50:121:99:1310,0,1920 17 7606722 7606722 C G exonic WRAP53 nonsynonymous SNV WRAP53:NM_018081:exon10:c.C1565G:p.A522G,WRAP53:NM_001143990:exon11:c.C1565G:p.A522G,WRAP53:NM_001143991:exon11:c.C1565G:p.A522G,WRAP53:NM_001143992:exon11:c.C1565G:p.A522G 0.51 0.93 0.31 0.41 0.23 0.48 0.3123 0.8219 0.2732 0.4125 0.2202 0.2033 0.2829 0.4479 0.4 0.79 0.19 0.47 0.17 rs7640 COSM148183 1(stomach);1(pancreas);1(large_intestine) Benign|Benign not_specified|Dyskeratosis_Congenita\x2c_Recessive RCV000243801.1|RCV000262444.1 MedGen|MedGen CN169374|CN239315 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.886 0.087 N 1 0.090 P -0.885 0.014 N 0.67 0.522 T -0.04 0.076 N 0.027 0.092 -0.993 0.319 T 0.000 0.000 T . . . -1.298 0.022 0.005 0.617 0.066 0.001 0.004 N c -1.786 -1.777 1.000 0.747 0.707 0.730 0 -6.63 0.016 -1.389 0.026 -0.244 0.091 0.000 0.063 0.009 0.108 8.558 0.325 . ENSG00000108947.4|ENSG00000108947.4|ENSG00000108947.4 Cells_Transformed_fibroblasts|Muscle_Skeletal|Thyroid 0.2980 0.8284 0.2663 0.1989 0.4201 0.2058 0.2054 0.2530 0.4455 0.4016 0.8148 0.2816 0.1921 0.4516 0.2145 0.2200 0.2639 het 1112.50 90 17 7606722 . C G 1112.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.490;DP=90;Dels=0.00;FS=2.866;HRun=7;HaplotypeScore=3.1233;MQ=59.79;MQ0=0;MQRankSum=0.054;QD=12.36;ReadPosRankSum=0.737;VQSLOD=5.9045;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,42:90:99:1142,0,1155 17 7630505 7630505 T C exonic DNAH2 synonymous SNV DNAH2:NM_001303270:exon4:c.T294C:p.H98H,DNAH2:NM_020877:exon4:c.T294C:p.H98H 0.086 0.11 0.072 . 0.17 0.068 0.1299 0.1148 0.0530 0.0003 0.1842 0.1677 0.1272 0.0871 0.15 0.12 0.17 0.11 0.19 rs11867551 . . Benign not_specified RCV000454569.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1278 0.1128 0.0563 0.1508 0.0003 0.1734 0.1695 0.1334 0.0868 0.1396 0.1135 0.0776 0.1391 0.0006 0.1726 0.1650 0.1480 het 1566.41 124 17 7630505 . T C 1566.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.747;DP=124;Dels=0.00;FS=10.275;HRun=0;HaplotypeScore=2.3893;MQ=59.21;MQ0=0;MQRankSum=1.365;QD=12.63;ReadPosRankSum=-0.271;VQSLOD=4.7118;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,66:124:99:1596,0,1627 17 7673922 7673922 A T exonic DNAH2 synonymous SNV DNAH2:NM_020877:exon26:c.A4146T:p.I1382I 0.053 0.13 0.026 . 0.037 0.039 0.0367 0.1057 0.0157 0 0.0254 0.0324 0.0264 0.0495 0.053 0.1 0.029 0.054 0.09 rs9910089 . . Benign not_specified RCV000455203.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0341 0.1042 0.0187 0.0720 0 0.0240 0.0290 0.0370 0.0483 0.0454 0.1005 0.0263 0.0728 0.0006 0.0329 0.0228 0.0265 het 2559.61 210 17 7673922 . A T 2559.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.191;DP=210;Dels=0.00;FS=4.019;HRun=1;HaplotypeScore=5.6031;MQ=59.23;MQ0=0;MQRankSum=1.649;QD=12.19;ReadPosRankSum=-0.057;VQSLOD=4.5746;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,97:210:99:2590,0,3108 17 7673928 7673928 C G exonic DNAH2 synonymous SNV DNAH2:NM_020877:exon26:c.C4152G:p.P1384P 0.36 0.34 0.44 0.37 0.29 0.37 0.3170 0.3236 0.5054 0.4067 0.2861 0.2632 0.2775 0.3660 0.28 0.32 0.26 0.39 0.3 rs9909288 COSM3755946 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000455881.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3237 0.3232 0.4951 0.2743 0.4104 0.2835 0.2616 0.2957 0.3637 0.3027 0.3358 0.4463 0.2550 0.3817 0.2985 0.2695 0.2920 hom 6381.19 216 17 7673928 . C G 6381.19 Mask AC=2;AF=1.00;AN=2;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4367;MQ=59.25;MQ0=0;QD=29.54;VQSLOD=5.8926;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,215:216:99:6380,527,0 17 7681412 7681412 C G exonic DNAH2 synonymous SNV DNAH2:NM_020877:exon34:c.C5265G:p.V1755V 0.76 0.43 0.89 0.8 0.95 0.89 0.8742 0.4991 0.8712 0.8037 0.9702 0.9347 0.8822 0.8657 0.79 0.51 0.94 0.66 0.97 rs7359662 . . Benign not_specified RCV000455057.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8827 0.4962 0.8707 0.9074 0.8016 0.9673 0.9366 0.8944 0.8662 0.8097 0.5109 0.8597 0.9040 0.8061 0.9705 0.9342 0.9236 hom 2591.57 83 17 7681412 . C G 2591.57 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.46;MQ0=0;QD=31.22;VQSLOD=8.9171;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2625,199,0 17 7682605 7682605 C T exonic DNAH2 synonymous SNV DNAH2:NM_020877:exon36:c.C5586T:p.I1862I 0.071 0.0038 0.15 0.001 0.17 0.078 0.1143 0.0243 0.1245 0.0008 0.1389 0.1439 0.1112 0.0944 0.11 0.031 0.14 0.054 0.082 rs17806045 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1172 0.0225 0.1302 0.0975 0.0007 0.1409 0.1475 0.1198 0.0947 0.1102 0.0321 0.1193 0.0960 0.0006 0.1350 0.1590 0.1487 het 1280.58 92 17 7682605 . C T 1280.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.350;DP=92;Dels=0.00;FS=2.745;HRun=1;HaplotypeScore=0.8941;MQ=58.93;MQ0=0;MQRankSum=0.496;QD=13.92;ReadPosRankSum=0.496;VQSLOD=6.5278;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,48:92:99:1311,0,1112 17 7722365 7722365 C T exonic DNAH2 nonsynonymous SNV DNAH2:NM_020877:exon71:c.C10799T:p.T3600I 0.61 0.79 0.54 0.35 0.61 0.69 0.6059 0.7592 0.4964 0.3520 0.6141 0.6087 0.6182 0.6983 0.65 0.75 0.6 0.65 0.51 rs7213894 COSM4999404 1(pancreas) Benign not_specified RCV000455810.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.196 P -3.73 0.000 N 1.87 0.241 T 4.76 0.000 N 0.481 0.530 -0.947 0.416 T 0.000 0.000 T . . . 0.678 0.159 8.683 0.129 0.002 0.015 0.050 N c -1.264 -0.954 0.056 0.150 0.554 0.283 0 4.07 0.466 2.926 0.483 0.154 0.240 0.996 0.391 0.528 0.276 7.346 0.257 . . . 0.5919 0.7603 0.5038 0.6508 0.3346 0.6081 0.5985 0.6053 0.6938 0.6224 0.7551 0.5639 0.69 0.3325 0.6100 0.5826 0.6064 het 267.79 34 17 7722365 . C T 267.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.252;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=0.450;QD=7.88;ReadPosRankSum=0.306;VQSLOD=6.7431;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,12:34:99:298,0,672 17 7735063 7735063 T G exonic DNAH2 nonsynonymous SNV DNAH2:NM_020877:exon82:c.T12696G:p.F4232L 0.15 0.0045 0.27 0.28 0.063 0.22 0.1227 0.0203 0.2889 0.2455 0.0753 0.0835 0.1057 0.1852 0.065 0.028 0.085 0.11 0.041 rs57985356 COSM3755966 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.654 0.048 T 0.003 0.102 B 0.01 0.139 B 0.000 0.537 D 0.069 0.370 P 1.265 0.321 L 3.15 0.078 T -2.76 0.585 D 0.204 0.304 -0.913 0.465 T 0.000 0.000 T . . . 3.408 0.468 23.0 0.930 0.219 0.974 0.746 D c -0.257 -0.077 0.995 0.339 0.549 0.223 0 4.27 0.498 1.986 0.401 0.059 0.165 1.000 0.715 0.997 0.653 9.719 0.393 Dynein heavy chain domain ENSG00000182224.7 Testis 0.1292 0.0184 0.2781 0.0642 0.2443 0.0724 0.0845 0.1113 0.1848 0.0766 0.0219 0.2231 0.0530 0.2243 0.0727 0.0846 0.0937 het 1171.96 107 17 7735063 . T G 1171.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.006;DP=107;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=4.7595;MQ=58.53;MQ0=0;MQRankSum=0.593;QD=10.95;ReadPosRankSum=0.543;VQSLOD=5.3631;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,47:107:99:1202,0,1506 17 7735934 7735934 G A exonic DNAH2 nonsynonymous SNV DNAH2:NM_020877:exon83:c.G12764A:p.R4255Q 0.11 0.0038 0.25 0.14 0.062 0.2 0.1078 0.0174 0.2852 0.1281 0.0807 0.0756 0.0883 0.1711 0.058 0.022 0.076 0.076 0.025 rs61745181 COSM3755967 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.109 0.292 T 0.955 0.525 P 0.658 0.509 P 0.000 0.629 D 0.001 0.466 P 1.58 0.399 L 3.14 0.079 T -3.11 0.636 D 0.21 0.362 -0.878 0.499 T 0.000 0.000 T . . . 6.316 0.872 29.2 0.999 0.991 0.968 0.710 D c 0.496 0.545 1.000 0.747 0.497 0.185 0 5.41 0.782 6.562 0.737 0.882 0.386 1.000 0.715 0.998 0.697 17.973 0.890 Dynein heavy chain domain . . 0.1152 0.0155 0.2744 0.0543 0.1264 0.0797 0.0768 0.1010 0.1714 0.0677 0.0187 0.2172 0.0497 0.1069 0.0821 0.0791 0.0908 het 3911.04 200 17 7735934 . G A 3911.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.206;DP=200;DS;Dels=0.00;FS=1.115;HRun=0;HaplotypeScore=5.7572;MQ=59.47;MQ0=0;MQRankSum=-0.657;QD=19.56;ReadPosRankSum=-0.446;VQSLOD=3.5948;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,109:200:99:3314,0,2577 17 7750232 7750232 T C exonic KDM6B synonymous SNV KDM6B:NM_001080424:exon9:c.T807C:p.A269A,KDM6B:NM_001348716:exon9:c.T807C:p.A269A 0.43 0.39 0.36 0.79 0.17 0.41 0.3129 0.3752 0.4220 0.8227 0.2513 0.2033 0.3021 0.3861 0.25 0.35 0.19 0.17 0.15 rs11078709 COSM4130749 4(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3107 0.3630 0.4034 0.2262 0.8234 0.2439 0.1947 0.2860 0.3840 0.3087 0.3850 0.3737 0.2556 0.8242 0.2552 0.2144 0.2753 het 540.33 34 17 7750232 . T C 540.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.994;DP=34;Dels=0.00;FS=3.854;HRun=1;HaplotypeScore=4.9388;MQ=54.83;MQ0=0;MQRankSum=0.018;QD=15.89;ReadPosRankSum=-0.488;VQSLOD=2.4436;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,18:34:99:570,0,406 17 7754993 7754993 G A exonic KDM6B synonymous SNV KDM6B:NM_001080424:exon17:c.G4044A:p.L1348L,KDM6B:NM_001348716:exon17:c.G4044A:p.L1348L 0.19 0.013 0.27 0.002 0.58 0.15 0.4529 0.1195 0.3187 0.0044 0.5399 0.6181 0.4632 0.2289 0.41 0.11 0.56 0.18 0.41 rs12939056 COSM3755970;COSM5828619 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3814 0.0836 0.2301 0.5437 0.0015 0.4203 0.5665 0.4171 0.2060 0.3673 0.0947 0.2554 0.5167 0.0018 0.4254 0.5506 0.4446 het 184.34 11 17 7754993 . G A 184.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.597;QD=16.76;ReadPosRankSum=1.246;VQSLOD=11.4058;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,7:11:99:214,0,114 17 7760397 7760397 G A exonic NAA38 synonymous SNV NAA38:NM_032356:exon1:c.C345T:p.F115F,NAA38:NM_001320924:exon2:c.C201T:p.F67F,NAA38:NM_001320925:exon2:c.C201T:p.F67F,NAA38:NM_001330111:exon4:c.C123T:p.F41F 0.25 0.33 0.29 0.27 0.092 0.26 0.1740 0.2965 0.3320 0.2376 0.1018 0.1129 0.1503 0.2276 0.17 0.29 0.11 0.14 0.09 rs4724 COSM3932768;COSM437700 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1740 0.2988 0.3140 0.1106 0.2377 0.1009 0.1112 0.1601 0.2266 0.1724 0.2914 0.2697 0.1026 0.2175 0.0977 0.1136 0.1426 het 3023.12 250 17 7760397 . G A 3023.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.957;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.7247;MQ=59.42;MQ0=0;MQRankSum=0.781;QD=12.09;ReadPosRankSum=1.113;VQSLOD=5.3700;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:3053,0,3849 17 7760704 7760704 A G exonic NAA38 nonsynonymous SNV NAA38:NM_032356:exon1:c.T38C:p.L13P 0.44 0.39 0.39 0.8 0.19 0.41 0.3241 0.3638 0.4247 0.8232 0.2661 0.2241 0.3125 0.3902 0.26 0.35 0.22 0.34 0.22 rs8522 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.030 0.253 N 0.879 0.588 P . . . 0.46 0.563 T 0.14 0.054 N 0.024 0.007 -0.992 0.322 T 0.000 0.000 T . . . -0.739 0.043 0.059 0.628 0.069 0.065 0.124 N c -1.046 -0.988 1.000 0.747 0.442 0.072 0 -5.02 0.027 -0.253 0.087 -0.230 0.094 0.940 0.324 0.995 0.604 3.836 0.083 . ENSG00000183011.9|ENSG00000183011.9|ENSG00000182224.7|ENSG00000183011.9|ENSG00000183011.9|ENSG00000183011.9|ENSG00000182224.7|ENSG00000183011.9|ENSG00000183011.9 Brain_Cortex|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Lung|Nerve_Tibial|Testis|Testis|Thyroid 0.3258 0.3628 0.4148 0.2432 0.8256 0.2647 0.2203 0.3042 0.3891 0.3023 0.3575 0.3624 0.2483 0.8207 0.2636 0.2227 0.2725 het 882.21 91 17 7760704 . A G 882.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.665;DP=91;Dels=0.00;FS=5.543;HRun=1;HaplotypeScore=2.6653;MQ=59.03;MQ0=0;MQRankSum=1.123;QD=9.69;ReadPosRankSum=-0.057;VQSLOD=5.3342;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,38:91:99:912,0,1456 17 7761512 7761512 C A exonic CYB5D1 nonsynonymous SNV CYB5D1:NM_001330110:exon1:c.C60A:p.F20L,CYB5D1:NM_144607:exon1:c.C60A:p.F20L 0.26 0.35 0.29 0.27 0.093 0.26 0.1741 0.3061 0.3319 0.2366 0.1018 0.1122 0.1493 0.2270 0.18 0.3 0.11 0.14 0.098 rs12453250 COSM3755971 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.012 0.546 D 0.945 0.539 P 0.641 0.511 P 0.000 0.843 D 0.000 0.810 P 1.82 0.479 L -1.57 0.819 D -4.55 0.785 D 0.166 0.278 -1.111 0.030 T 0.000 0.000 T . . . 4.385 0.587 24.1 0.993 0.566 0.460 0.274 N c 0.135 0.116 1.000 0.747 0.442 0.072 0 1.28 0.206 1.611 0.363 0.065 0.171 1.000 0.715 0.996 0.625 9.384 0.373 Cytochrome b5-like heme/steroid binding domain ENSG00000182224.7 Testis 0.1745 0.3108 0.3145 0.1093 0.2359 0.1007 0.1112 0.1606 0.2261 0.1752 0.3013 0.2722 0.1026 0.2172 0.0977 0.1137 0.1418 het 1294.39 112 17 7761512 . C A 1294.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.740;DP=112;Dels=0.00;FS=7.809;HRun=1;HaplotypeScore=6.5949;MQ=59.42;MQ0=0;MQRankSum=-0.515;QD=11.56;ReadPosRankSum=-0.594;VQSLOD=4.4174;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,48:112:99:1324,0,1660 17 7843053 7843053 C T exonic CNTROB synonymous SNV CNTROB:NM_001037144:exon8:c.C1150T:p.L384L,CNTROB:NM_001330124:exon8:c.C1150T:p.L384L,CNTROB:NM_053051:exon8:c.C1150T:p.L384L 0.59 0.44 0.64 0.8 0.43 0.73 0.5297 0.4565 0.7083 0.7554 0.4856 0.4366 0.5123 0.7237 0.45 0.46 0.44 0.53 0.39 rs11078719 COSM3766208 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5349 0.4513 0.6891 0.4076 0.7622 0.5023 0.4343 0.4892 0.7166 0.4816 0.4556 0.6575 0.4667 0.7667 0.4960 0.4516 0.5020 het 846.26 136 17 7843053 . C T 846.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.070;DP=136;Dels=0.00;FS=1.610;HRun=1;HaplotypeScore=1.9203;MQ=58.97;MQ0=0;MQRankSum=-0.376;QD=6.22;ReadPosRankSum=-0.352;VQSLOD=5.2926;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:98,38:136:99:876,0,2759 17 7847955 7847955 C A exonic CNTROB nonsynonymous SNV CNTROB:NM_001037144:exon12:c.C1733A:p.P578Q,CNTROB:NM_001330124:exon12:c.C1733A:p.P578Q,CNTROB:NM_053051:exon12:c.C1733A:p.P578Q 0.6 0.45 0.66 0.8 0.45 0.73 0.5490 0.4603 0.7193 0.7558 0.5313 0.4632 0.5333 0.7344 0.46 0.47 0.46 0.53 0.43 rs11650083 COSM1387479 1(liver);1(large_intestine) . . . . . . . . . . . 0.626 0.052 T 0.001 0.119 B 0.001 0.121 B 0.952 0.077 N 1 0.090 P 1.59 0.404 L 1.16 0.381 T 0.16 0.061 N 0.019 0.088 -0.955 0.402 T 0.000 0.000 T . . . 0.159 0.109 4.243 0.477 0.039 0.052 0.108 N c -1.213 -1.250 0.059 0.152 0.707 0.730 0 -2.37 0.062 -0.178 0.097 -0.043 0.124 0.007 0.175 0.002 0.062 4.562 0.115 . ENSG00000170049.5|ENSG00000170037.9|ENSG00000170037.9|ENSG00000170049.5|ENSG00000170049.5|ENSG00000170049.5|ENSG00000170049.5|ENSG00000170037.9|ENSG00000170049.5|ENSG00000170049.5|ENSG00000170037.9|ENSG00000170049.5|ENSG00000170037.9|ENSG00000170037.9|ENSG00000170049.5|ENSG00000170037.9|ENSG00000170049.5|ENSG00000170037.9|ENSG00000170049.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.5555 0.4565 0.7021 0.4443 0.7625 0.5468 0.4601 0.5165 0.7230 0.5012 0.4617 0.6718 0.4901 0.7655 0.5404 0.4756 0.5266 het 1729.06 240 17 7847955 . C A 1729.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.161;DP=240;DS;Dels=0.00;FS=5.758;HRun=1;HaplotypeScore=1.7882;MQ=59.39;MQ0=1;MQRankSum=-0.858;QD=7.20;ReadPosRankSum=1.276;VQSLOD=4.1591;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:163,77:240:99:1759,0,4557 17 7849087 7849087 C G exonic CNTROB synonymous SNV CNTROB:NM_001037144:exon13:c.C1776G:p.P592P,CNTROB:NM_001330124:exon13:c.C1776G:p.P592P,CNTROB:NM_053051:exon13:c.C1776G:p.P592P 0.63 0.54 0.67 0.8 0.45 0.73 0.5562 0.5466 0.7230 0.7561 0.5315 0.4625 0.5352 0.7299 0.49 0.55 0.46 0.56 0.43 rs4462665 COSM1387480 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5611 0.5450 0.7062 0.4424 0.7621 0.5472 0.4592 0.5188 0.7222 0.5262 0.5475 0.6766 0.4901 0.7663 0.5404 0.4764 0.5327 het 1432.73 162 17 7849087 . C G 1432.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.505;DP=162;Dels=0.00;FS=4.908;HRun=1;HaplotypeScore=2.6203;MQ=58.66;MQ0=0;MQRankSum=-0.351;QD=8.84;ReadPosRankSum=0.600;VQSLOD=4.7319;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,61:162:99:1463,0,2800 17 7849130 7849130 G A exonic CNTROB nonsynonymous SNV CNTROB:NM_001037144:exon13:c.G1819A:p.V607M,CNTROB:NM_001330124:exon13:c.G1819A:p.V607M,CNTROB:NM_053051:exon13:c.G1819A:p.V607M . . . . . . 0.0002 0.0002 0 0 0.0002 0.0003 0 0 0.0001 0.0002 . . . rs201982090 COSM985731 1(endometrium) . . . . . . . . . . . 0.002 0.721 D 0.998 0.715 D 0.897 0.619 P 0.000 0.466 D 1 0.810 D 2.28 0.651 M 0.86 0.468 T -1.19 0.303 N 0.715 0.771 -0.891 0.488 T 0.149 0.475 T 0.023 0.462 T 6.135 0.846 28.4 0.999 0.962 0.773 0.377 D c 0.350 0.348 0.006 0.110 0.707 0.730 0 3.48 0.388 3.274 0.511 0.953 0.551 0.997 0.399 0.881 0.369 6.241 0.199 . . . 0.0002 0.0001 5.956e-05 0 0 0.0004 0.0002 0.0002 0 0.0003 0.0002 0 0 0 0.0003 0.0003 0.0010 het 1451.56 173 17 7849130 . G A 1451.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.830;DP=173;Dels=0.00;FS=3.018;HRun=0;HaplotypeScore=5.3597;MQ=58.97;MQ0=0;MQRankSum=0.413;QD=8.39;ReadPosRankSum=-0.092;VQSLOD=3.1154;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,60:173:99:1482,0,2960 17 7907255 7907255 C T exonic GUCY2D synonymous SNV GUCY2D:NM_000180:exon3:c.C807T:p.T269T . . . . . . 1.66e-05 0 0 0 0 1.514e-05 0 6.063e-05 . . . . . rs773415492 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.221e-05 6.542e-05 0 0 0 0 8.982e-06 0 3.249e-05 3.236e-05 0 0 0 0 0 6.678e-05 0 het 1912.18 162 17 7907255 . C T 1912.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.353;DP=162;Dels=0.00;FS=8.016;HRun=0;HaplotypeScore=8.0586;MQ=59.22;MQ0=0;MQRankSum=1.282;QD=11.80;ReadPosRankSum=-0.156;VQSLOD=2.5834;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,67:162:99:1942,0,2537 17 7942901 7942901 C G exonic ALOX15B synonymous SNV ALOX15B:NM_001039130:exon2:c.C345G:p.T115T,ALOX15B:NM_001039131:exon2:c.C345G:p.T115T,ALOX15B:NM_001141:exon2:c.C345G:p.T115T 0.26 0.14 0.26 0.39 0.36 0.2 0.3009 0.2143 0.2785 0.375 0.6429 0.3725 0.3939 0.2681 0.22 0.14 0.26 0.098 . rs76589243 COSM3749425 1(liver);3(thyroid);4(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3108 0.1894 0.2104 0.3107 0.3959 0.3711 0.3820 0.3062 0.2466 0.3257 0.1904 0.1990 0.2767 0.3911 0.3814 0.3920 0.3412 het 93.59 10 17 7942901 . C G 93.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=56.16;MQ0=0;MQRankSum=0.365;QD=9.36;ReadPosRankSum=-1.133;VQSLOD=5.2586;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,6:10:91.67:124,0,92 17 7999957 7999957 G A exonic ALOXE3 synonymous SNV ALOXE3:NM_001165960:exon16:c.C2520T:p.S840S,ALOXE3:NM_021628:exon16:c.C2124T:p.S708S 0.42 0.25 0.57 0.6 0.42 0.38 0.4464 0.2741 0.6833 0.6315 0.4700 0.4197 0.4284 0.3915 0.37 0.27 0.42 0.45 0.46 rs3809881 COSM437813;COSM1480179 1(liver);1(large_intestine) Benign|Benign not_specified|Congenital_ichthyosiform_erythroderma RCV000245812.1|RCV000384778.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0007431:C0079583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4592 0.2707 0.6640 0.4557 0.6391 0.4690 0.4133 0.4513 0.3906 0.3884 0.2781 0.6157 0.4272 0.6510 0.4607 0.3923 0.4131 het 1921.38 178 17 7999957 . G A 1921.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.481;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9939;MQ=58.90;MQ0=0;MQRankSum=1.765;QD=10.79;ReadPosRankSum=-1.697;VQSLOD=5.7941;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,81:178:99:1951,0,2466 17 8026364 8026364 C T exonic HES7 synonymous SNV HES7:NM_001165967:exon2:c.G123A:p.E41E,HES7:NM_032580:exon2:c.G123A:p.E41E 0.14 0.0068 0.27 0.38 0.044 0.085 0.1831 0.0284 0.5170 0.4844 0.1425 0.0869 0.1614 0.0963 0.032 0.014 0.04 0.12 0.033 rs61731639 COSM4130858 1(thyroid) Benign not_specified RCV000243071.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1187 0.0121 0.3786 0.0849 0.3762 0.0549 0.0366 0.1094 0.0732 0.0613 0.0125 0.3301 0.0894 0.3709 0.0507 0.0433 0.0643 het 131.39 13 17 8026364 . C T 131.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.935;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=58.20;MQ0=0;MQRankSum=0.811;QD=10.11;ReadPosRankSum=-1.954;VQSLOD=4.5778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:161,0,212 17 8046772 8046772 C G exonic PER1 nonsynonymous SNV PER1:NM_002616:exon19:c.G2884C:p.A962P 0.77 0.75 0.84 0.53 0.89 0.87 0.8544 0.7922 0.8284 0.5219 0.9304 0.8965 0.8602 0.8851 0.86 0.79 0.9 0.3 0.68 rs2585405 COSM3766231 1(bone);1(liver);1(thyroid) . . . . . . . . . . . 0.581 0.060 T 0.0 0.026 B 0.0 0.013 B 0.082 0.208 N 1 0.090 P -1.665 0.004 N 2.59 0.157 T 1.32 0.009 N 0.064 0.078 -1.042 0.168 T 0.000 0.000 T . . . 0.259 0.119 5.289 0.583 0.058 0.026 0.071 N c -0.950 -0.814 0.972 0.293 0.635 0.413 0 3.22 0.359 0.553 0.229 0.101 0.200 0.429 0.262 0.001 0.043 12.935 0.575 . . . 0.8514 0.7933 0.8365 0.7501 0.5196 0.9273 0.9016 0.8418 0.8818 0.8581 0.8049 0.8091 0.7848 0.5131 0.9364 0.9092 0.9016 hom 1283.76 39 17 8046772 . C G 1283.76 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=32.92;VQSLOD=9.6111;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1317,105,0 17 8048169 8048169 T C exonic PER1 synonymous SNV PER1:NM_002616:exon18:c.A2361G:p.T787T 0.57 0.51 0.5 0.28 0.82 0.74 0.7486 0.5797 0.4829 0.3685 0.8651 0.8373 0.7445 0.7795 0.74 0.55 0.84 0.48 0.69 rs2253820 COSM4130865 19(soft_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7012 0.5409 0.4223 0.6039 0.2958 0.8586 0.8403 0.7022 0.7655 0.7271 0.5607 0.4582 0.6433 0.2971 0.8701 0.8475 0.8200 het 248.04 12 17 8048169 . T C 248.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.185;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.740;QD=20.67;ReadPosRankSum=-1.109;VQSLOD=12.5663;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,9:12:69.44:278,0,69 17 8048283 8048283 G A exonic PER1 synonymous SNV PER1:NM_002616:exon18:c.C2247T:p.G749G 0.57 0.51 0.5 0.28 0.82 0.74 0.7253 0.5552 0.4104 0.3031 0.8697 0.8408 0.7481 0.7762 0.74 0.56 0.84 0.48 . rs2735611 COSM4130866 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7125 0.5463 0.4376 0.5980 0.2935 0.8625 0.8445 0.7254 0.7628 0.7275 0.5619 0.4582 0.6467 0.2966 0.8698 0.8477 0.8206 het 474.36 39 17 8048283 . G A 474.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.330;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=60.00;MQ0=0;MQRankSum=0.913;QD=12.16;ReadPosRankSum=-1.475;VQSLOD=6.1656;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,19:39:99:504,0,546 17 8053085 8053085 T G exonic PER1 synonymous SNV PER1:NM_002616:exon5:c.A639C:p.T213T 0.29 0.27 0.46 0.27 0.29 0.2 0.2937 0.2596 0.5097 0.2719 0.2251 0.2925 0.3172 0.2064 0.29 0.26 0.31 0.29 0.24 rs3027178 COSM148188 1(stomach);12(soft_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3026 0.2574 0.5070 0.3299 0.2735 0.2359 0.2885 0.3093 0.2058 0.2753 0.2505 0.4522 0.3278 0.2894 0.2352 0.2864 0.2796 het 4443.15 250 17 8053085 . T G 4443.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.860;DP=250;DS;Dels=0.00;FS=4.437;HRun=1;HaplotypeScore=6.0938;MQ=59.18;MQ0=0;MQRankSum=-0.191;QD=17.77;ReadPosRankSum=1.545;VQSLOD=3.9717;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,127:250:99:3753,0,3322 17 8108331 8108331 A G exonic AURKB nonsynonymous SNV AURKB:NM_001313955:exon7:c.T389C:p.M130T,AURKB:NM_001256834:exon8:c.T770C:p.M257T,AURKB:NM_001313952:exon8:c.T773C:p.M258T,AURKB:NM_001313953:exon8:c.T797C:p.M266T,AURKB:NM_001284526:exon9:c.T896C:p.M299T,AURKB:NM_001313950:exon9:c.T893C:p.M298T,AURKB:NM_001313951:exon9:c.T770C:p.M257T,AURKB:NM_001313954:exon9:c.T437C:p.M146T,AURKB:NM_004217:exon9:c.T893C:p.M298T 0.74 0.64 0.81 0.55 0.88 0.85 0.8306 0.6881 0.7890 0.5485 0.9042 0.8803 0.8326 0.8659 0.82 0.7 0.88 0.64 0.88 rs1059476 COSM4130880;COSM4130881 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 0.39 0.108 T 0.0 0.026 B 0.0 0.013 B 0.190 0.032 N 1 0.090 P -0.44 0.028 N -0.07 0.638 T 1.09 0.013 N 0.329 0.390 -0.992 0.322 T 0.000 0.000 T . . . -1.014 0.031 0.015 0.233 0.010 0.118 0.167 N c -1.551 -1.532 0.909 0.263 0.672 0.522 0 -1.93 0.071 1.329 0.332 -0.421 0.059 0.002 0.151 0.312 0.239 4.479 0.111 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain . . 0.8322 0.6931 0.7976 0.7372 0.5506 0.9034 0.8867 0.8368 0.8636 0.8160 0.6942 0.7728 0.76 0.5252 0.9068 0.8955 0.8832 hom 1222.75 38 17 8108331 . A G 1222.75 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.65;MQ0=0;QD=32.18;VQSLOD=8.7384;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1256,105,0 17 8108339 8108339 G A exonic AURKB synonymous SNV AURKB:NM_001313955:exon7:c.C381T:p.S127S,AURKB:NM_001256834:exon8:c.C762T:p.S254S,AURKB:NM_001313952:exon8:c.C765T:p.S255S,AURKB:NM_001313953:exon8:c.C789T:p.S263S,AURKB:NM_001284526:exon9:c.C888T:p.S296S,AURKB:NM_001313950:exon9:c.C885T:p.S295S,AURKB:NM_001313951:exon9:c.C762T:p.S254S,AURKB:NM_001313954:exon9:c.C429T:p.S143S,AURKB:NM_004217:exon9:c.C885T:p.S295S 0.62 0.55 0.7 0.52 0.66 0.72 0.6547 0.5625 0.6983 0.5039 0.7555 0.6552 0.6526 0.7200 0.62 0.57 0.65 0.52 0.67 rs2241909 COSM3766233;COSM3766234 1(haematopoietic_and_lymphoid_tissue);1(liver);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6580 0.5633 0.6959 0.5242 0.5066 0.7447 0.6617 0.6544 0.7136 0.6398 0.5578 0.6719 0.5403 0.4729 0.7446 0.6782 0.6789 hom 1332.01 39 17 8108339 . G A 1332.01 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;QD=34.15;VQSLOD=9.6366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1365,105,0 17 8132763 8132763 T C exonic CTC1 nonsynonymous SNV CTC1:NM_025099:exon19:c.A3013G:p.I1005V 0.66 0.73 0.63 0.36 0.83 0.73 0.7509 0.7562 0.5362 0.3844 0.8575 0.8156 0.7394 0.7855 0.8 0.77 0.81 0.63 0.84 rs3826543 COSM4130882 2(thyroid) other|Benign not_specified|Dyskeratosis_Congenita\x2c_Recessive RCV000116841.3|RCV000367367.1 MedGen|MedGen CN169374|CN239315 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.734 0.064 N 1 0.090 P -1.7 0.004 N -1.49 0.812 T 0.36 0.037 N 0.014 0.003 -0.919 0.458 T 0.000 0.000 T . . . -2.795 0.002 0.001 0.131 0.002 0.004 0.021 N c -1.860 -1.855 0.320 0.194 0.707 0.730 0 -3.33 0.046 -0.940 0.040 -1.753 0.007 0.000 0.063 0.007 0.100 1.410 0.021 . ENSG00000178921.9 Cells_Transformed_fibroblasts 0.7387 0.7597 0.5504 0.6686 0.3819 0.8555 0.8195 0.7343 0.7806 0.7789 0.7579 0.5767 0.6954 0.3834 0.8481 0.8284 0.8065 het 1597.52 129 17 8132763 . T C 1597.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.282;DP=129;Dels=0.00;FS=4.054;HRun=0;HaplotypeScore=2.8888;MQ=59.17;MQ0=0;MQRankSum=1.237;QD=12.38;ReadPosRankSum=-1.299;VQSLOD=5.7373;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,67:129:99:1628,0,1681 17 8135061 8135061 T C exonic CTC1 nonsynonymous SNV CTC1:NM_025099:exon14:c.A2458G:p.I820V 0.94 0.91 0.88 0.99 0.97 0.93 0.9507 0.9234 0.8697 0.9920 0.9909 0.9637 0.9478 0.9340 0.95 0.93 0.96 0.95 0.98 rs3027238 . . other|Benign not_specified|Dyskeratosis_Congenita\x2c_Recessive RCV000116840.3|RCV000267880.1 MedGen|MedGen CN169374|CN239315 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.014 0.287 N 1 0.090 P -1.75 0.003 N -1.33 0.799 T 0.18 0.050 N 0.089 0.086 -0.953 0.405 T 0.000 0.000 T . . . -2.906 0.001 0.001 0.202 0.007 0.002 0.009 N c -1.869 -1.746 0.094 0.162 0.707 0.730 0 1.07 0.193 0.260 0.181 -1.795 0.007 0.066 0.217 0.001 0.043 5.961 0.184 . ENSG00000178971.9|ENSG00000178971.9|ENSG00000178971.9|ENSG00000269928.1 Esophagus_Muscularis|Nerve_Tibial|Thyroid|Thyroid 0.9474 0.9232 0.8700 0.8611 0.9921 0.9909 0.9700 0.9425 0.9339 0.9554 0.9183 0.8890 0.8907 0.9932 0.9934 0.9684 0.9662 hom 3557.95 118 17 8135061 . T C 3557.95 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6342;MQ=58.73;MQ0=0;QD=30.15;VQSLOD=8.4846;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3557,289,0 17 8157310 8157310 C T exonic PFAS nonsynonymous SNV PFAS:NM_012393:exon2:c.C55T:p.P19S 0.63 0.45 0.79 0.56 0.83 0.65 0.7432 0.4968 0.8021 0.5534 0.8530 0.7998 0.7483 0.6838 0.7 0.51 0.8 0.64 0.79 rs9891699 . . . . . . . . . . . . . 0.866 0.026 T 0.0 0.026 B 0.0 0.013 B 0.058 0.224 N 1 0.186 P -2.075 0.002 N 1.04 0.402 T 1.6 0.007 N 0.165 0.214 -1.038 0.180 T 0.000 0.000 T . . . -0.896 0.036 0.026 0.853 0.153 0.004 0.020 N c -1.919 -1.801 0.216 0.183 0.707 0.730 0 -1.22 0.090 -0.238 0.089 -0.730 0.036 0.000 0.063 0.213 0.220 2.937 0.054 . ENSG00000178921.9|ENSG00000269947.1 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg 0.7497 0.4894 0.8018 0.7107 0.5522 0.8558 0.8022 0.7563 0.6768 0.7093 0.5017 0.7620 0.7152 0.5317 0.8448 0.8097 0.7828 hom 3513.15 106 17 8157310 . C T 3513.15 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8271;MQ=59.25;MQ0=0;QD=33.14;VQSLOD=9.2061;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3513,277,0 17 8161149 8161149 C T exonic PFAS nonsynonymous SNV PFAS:NM_012393:exon10:c.C1100T:p.P367L 0.34 0.23 0.32 0.23 0.53 0.42 0.4346 0.2654 0.2659 0.2329 0.6145 0.4970 0.4259 0.4414 0.42 0.28 0.49 0.36 0.49 rs4791641 COSM3766235 1(liver);1(oesophagus) . . . . . . . . . . . 0.212 0.195 T 0.0 0.026 B 0.004 0.093 B 0.001 0.392 N 0.177 0.588 P 0.755 0.192 N 1.04 0.402 T -2.0 0.461 N 0.072 0.061 -0.939 0.427 T 0.000 0.000 T . . . 2.574 0.371 19.94 0.956 0.267 0.350 0.250 N c -0.363 -0.285 0.029 0.139 0.707 0.730 0 4.82 0.615 1.775 0.380 0.935 0.490 0.011 0.184 0.999 0.750 12.428 0.547 PurM-like\x2c N-terminal domain ENSG00000269928.1|ENSG00000178921.9|ENSG00000269928.1 Colon_Transverse|Heart_Atrial_Appendage|Nerve_Tibial 0.4329 0.2619 0.2751 0.3676 0.2322 0.6072 0.5051 0.4325 0.4349 0.4284 0.2610 0.2983 0.3567 0.2161 0.5944 0.5153 0.4846 het 1308.29 93 17 8161149 . C T 1308.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.563;DP=93;Dels=0.00;FS=10.489;HRun=0;HaplotypeScore=1.6120;MQ=58.44;MQ0=0;MQRankSum=1.278;QD=14.07;ReadPosRankSum=2.034;VQSLOD=3.7257;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,51:93:99:1338,0,1161 17 8167600 8167600 T C exonic PFAS nonsynonymous SNV PFAS:NM_012393:exon16:c.T1862C:p.L621P 0.53 0.52 0.57 0.27 0.77 0.52 0.6513 0.5527 0.4775 0.2870 0.7533 0.7533 0.6615 0.5723 0.69 0.57 0.75 0.49 0.73 rs11078738 . . . . . . . . . . . . . 0.361 0.119 T 0.0 0.026 B 0.0 0.013 B 0.006 0.325 N 1 0.090 P -1.975 0.002 N 2.08 0.202 T 0.83 0.018 N 0.118 0.130 -0.946 0.417 T 0.000 0.000 T . . . -0.304 0.068 0.651 0.061 0.000 0.002 0.009 N c -1.501 -1.430 0.004 0.104 0.707 0.730 0 1.53 0.221 0.054 0.140 -1.326 0.013 0.000 0.063 0.003 0.074 5.668 0.169 AIR synthase-related protein\x2c C-terminal domain ENSG00000178921.9 Cells_Transformed_fibroblasts 0.6460 0.5523 0.4948 0.6772 0.2856 0.7546 0.7563 0.6634 0.5682 0.6699 0.5648 0.5084 0.6556 0.2826 0.7434 0.7629 0.7008 het 615.49 71 17 8167600 . T C 615.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.413;DP=71;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.1462;MQ=58.82;MQ0=0;MQRankSum=-0.309;QD=8.67;ReadPosRankSum=0.876;VQSLOD=5.5643;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,26:71:99:645,0,1262 17 8215534 8215534 C T exonic ARHGEF15 synonymous SNV ARHGEF15:NM_025014:exon2:c.C177T:p.T59T,ARHGEF15:NM_173728:exon2:c.C177T:p.T59T 0.42 0.41 0.44 0.65 0.32 0.28 0.3756 0.3912 0.5016 0.6675 0.3534 0.3285 0.3830 0.3012 0.35 0.38 0.33 0.46 0.31 rs3744651 COSM3766236 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3903 0.3981 0.5120 0.3679 0.6738 0.3602 0.3370 0.3860 0.2905 0.3733 0.3802 0.4543 0.3142 0.6820 0.3672 0.3346 0.3567 het 1787.19 123 17 8215534 . C T 1787.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.705;DP=123;Dels=0.00;FS=2.350;HRun=0;HaplotypeScore=1.5518;MQ=58.87;MQ0=0;MQRankSum=-0.107;QD=14.53;ReadPosRankSum=1.497;VQSLOD=6.1055;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,67:123:99:1817,0,1536 17 8224276 8224276 T C exonic ARHGEF15 nonsynonymous SNV ARHGEF15:NM_025014:exon16:c.T2491C:p.S831P,ARHGEF15:NM_173728:exon16:c.T2491C:p.S831P 0.58 0.66 0.7 0.43 0.63 0.47 0.6114 0.6602 0.7005 0.4181 0.5987 0.6373 0.6162 0.5193 0.64 0.67 0.63 0.65 0.58 rs3744647 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.341 0.140 N 1 0.090 P -1.05 0.011 N -0.4 0.693 T 0.13 0.055 N 0.083 0.104 -0.939 0.429 T 0.000 0.000 T . . . -1.216 0.025 0.006 0.742 0.103 0.001 0.006 N c -1.352 -1.325 0.000 0.050 0.672 0.522 0 0.487 0.160 -1.056 0.036 0.069 0.176 0.000 0.063 0.439 0.261 6.930 0.235 . ENSG00000212206.1|ENSG00000184650.5|ENSG00000198150.2|ENSG00000265749.1|ENSG00000184650.5 Adipose_Subcutaneous|Esophagus_Mucosa|Nerve_Tibial|Testis|Testis 0.6143 0.6653 0.7075 0.6705 0.4090 0.5966 0.6333 0.6557 0.5210 0.6255 0.6575 0.6835 0.6913 0.4178 0.5888 0.6324 0.6370 het 1697.85 135 17 8224276 . T C 1697.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.857;DP=135;Dels=0.00;FS=1.379;HRun=1;HaplotypeScore=3.3631;MQ=58.96;MQ0=0;MQRankSum=1.861;QD=12.58;ReadPosRankSum=2.244;VQSLOD=5.2798;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,70:135:99:1728,0,1529 17 8243469 8243469 T C exonic ODF4 nonsynonymous SNV ODF4:NM_001319953:exon1:c.T100C:p.W34R,ODF4:NM_153007:exon1:c.T100C:p.W34R 0.18 0.015 0.4 0.068 0.35 0.19 0.2652 0.0514 0.4610 0.0728 0.2975 0.2945 0.2802 0.2147 0.22 0.059 0.3 0.17 0.32 rs12943505 COSM3756058 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.817 0.030 T 0.01 0.144 B 0.017 0.170 B 0.108 0.026 N 1 0.090 P 0.69 0.170 N 1.66 0.471 T -2.07 0.473 N 0.046 0.084 -0.976 0.360 T 0.000 0.000 T . . . -0.551 0.053 0.164 0.647 0.073 0.007 0.031 N c -1.331 -1.410 0.000 0.012 0.428 0.059 0 -2.74 0.056 -1.982 0.016 -0.024 0.128 0.000 0.063 0.000 0.016 5.487 0.159 . ENSG00000265749.1|ENSG00000184650.5 Adipose_Subcutaneous|Testis 0.2689 0.0485 0.4595 0.3282 0.0759 0.2916 0.2876 0.3083 0.1835 0.2088 0.0522 0.4021 0.35 0.0735 0.2938 0.2762 0.2867 het 917.02 75 17 8243469 . T C 917.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.193;DP=75;Dels=0.00;FS=4.546;HRun=0;HaplotypeScore=3.5099;MQ=59.13;MQ0=0;MQRankSum=0.335;QD=12.23;ReadPosRankSum=-0.175;VQSLOD=5.7653;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:947,0,950 17 8243661 8243661 G A exonic ODF4 nonsynonymous SNV ODF4:NM_153007:exon1:c.G292A:p.V98M 0.54 0.65 0.65 0.32 0.62 0.45 0.5915 0.6481 0.6525 0.3246 0.5636 0.6326 0.5833 0.4953 0.64 0.65 0.63 0.59 0.54 rs12601097 COSM148189 1(stomach);1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.007 0.317 N 1.000 0.588 P -2.11 0.002 N 2.02 0.211 T 3.35 0.001 N 0.041 0.021 -0.943 0.422 T 0.000 0.000 T . . . 0.137 0.107 4.002 0.531 0.048 0.008 0.031 N c -1.053 -0.801 0.000 0.069 0.428 0.059 0 4.89 0.632 1.034 0.296 0.168 0.246 0.931 0.321 0.309 0.239 7.368 0.258 . ENSG00000212206.1|ENSG00000184650.5|ENSG00000265749.1|ENSG00000184650.5 Adipose_Subcutaneous|Esophagus_Mucosa|Testis|Testis 0.5888 0.6509 0.6594 0.6593 0.3157 0.5503 0.6276 0.6355 0.4920 0.6016 0.6443 0.6364 0.68 0.3207 0.5406 0.6173 0.6066 het 324.99 27 17 8243661 . G A 324.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.098;DP=27;Dels=0.00;FS=1.576;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=-0.122;QD=12.04;ReadPosRankSum=0.512;VQSLOD=6.7047;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:355,0,439 17 8243785 8243785 A G exonic ODF4 nonsynonymous SNV ODF4:NM_153007:exon1:c.A416G:p.Y139C 0.54 0.65 0.65 0.32 0.62 0.45 0.5895 0.6482 0.6494 0.3216 0.5598 0.6310 0.5822 0.4952 0.64 0.65 0.63 0.59 0.6 rs12936935 COSM5437800 1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.024 0.263 N 1 0.189 P -1.735 0.003 N 1.88 0.239 T 6.48 0.000 N 0.081 0.074 -0.935 0.434 T 0.000 0.000 T . . . -1.469 0.018 0.003 0.737 0.101 0.001 0.005 N c -1.261 -1.113 0.000 0.052 0.428 0.059 0 3.92 0.444 1.191 0.315 0.076 0.183 0.437 0.262 0.009 0.108 7.442 0.262 . ENSG00000212206.1|ENSG00000184650.5|ENSG00000265749.1|ENSG00000184650.5 Adipose_Subcutaneous|Esophagus_Mucosa|Testis|Testis 0.5884 0.6492 0.6594 0.6583 0.3161 0.5503 0.6267 0.6360 0.4916 0.6016 0.6449 0.6364 0.6788 0.3205 0.5402 0.6173 0.6045 het 958.56 61 17 8243785 . A G 958.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.588;DP=61;Dels=0.00;FS=5.415;HRun=0;HaplotypeScore=0.9992;MQ=59.01;MQ0=0;MQRankSum=0.096;QD=15.71;ReadPosRankSum=1.115;VQSLOD=5.4851;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,37:61:99:989,0,579 17 8416901 8416901 C T exonic MYH10 synonymous SNV MYH10:NM_005964:exon21:c.G2607A:p.T869T,MYH10:NM_001256095:exon22:c.G2634A:p.T878T,MYH10:NM_001256012:exon23:c.G2700A:p.T900T 0.42 0.38 0.43 0.5 0.35 0.46 0.4031 0.3849 0.3647 0.4949 0.4492 0.3869 0.3877 0.4412 0.38 0.38 0.38 0.4 0.42 rs11374 COSM1130107;COSM4419019 1(bone);1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4016 0.3814 0.3650 0.3250 0.4981 0.4470 0.3880 0.3863 0.4409 0.4027 0.3787 0.3612 0.2933 0.4969 0.4441 0.4024 0.3878 het 2423.61 184 17 8416901 . C T 2423.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.429;DP=184;Dels=0.00;FS=0.614;HRun=2;HaplotypeScore=8.4877;MQ=59.42;MQ0=0;MQRankSum=-0.432;QD=13.17;ReadPosRankSum=0.305;VQSLOD=4.2496;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,91:184:99:2454,0,2483 17 8424270 8424270 G A exonic MYH10 synonymous SNV MYH10:NM_005964:exon17:c.C2106T:p.N702N,MYH10:NM_001256095:exon18:c.C2133T:p.N711N,MYH10:NM_001256012:exon19:c.C2199T:p.N733N 0.98 0.93 1. 1. 1. 1. 0.9923 0.9162 0.9958 1 1 0.9999 0.9989 0.9999 0.97 0.91 1. 0.99 0.98 rs8067456 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9941 0.9164 0.9957 1 1 1 0.9998 0.9971 0.9999 0.9765 0.9179 0.9964 1 1 1 0.9997 0.9969 hom 1802.96 59 17 8424270 . G A 1802.96 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=30.56;VQSLOD=7.8571;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1836,144,0 17 8700982 8700982 C T exonic MFSD6L nonsynonymous SNV MFSD6L:NM_152599:exon1:c.G1457A:p.R486H 0.2 0.22 0.12 0.19 0.18 0.27 0.1855 0.2181 0.0973 0.1482 0.1426 0.1819 0.1737 0.2784 0.2 0.21 0.19 0.18 0.17 rs2242373 COSM4000361 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.034 0.440 D 0.995 0.657 D 0.684 0.518 P 0.038 0.244 N 0.830 0.287 P 1.61 0.413 L -3.48 0.946 D -0.69 0.197 N 0.076 0.067 -1.260 0.000 T 0.002 0.007 T . . . 5.520 0.750 26.3 0.999 0.931 0.675 0.332 D c 0.055 -0.066 1.000 0.747 0.497 0.185 0 4.9 0.635 3.377 0.519 0.935 0.490 0.048 0.211 0.007 0.100 17.013 0.862 Major facilitator superfamily domain . . 0.1798 0.2241 0.0982 0.1546 0.1461 0.1451 0.1858 0.1584 0.2800 0.1917 0.2191 0.1074 0.18 0.1445 0.1458 0.1978 0.1708 het 1145.78 62 17 8700982 . C T 1145.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.116;DP=62;Dels=0.00;FS=2.370;HRun=0;HaplotypeScore=3.3269;MQ=59.25;MQ0=0;MQRankSum=-0.461;QD=18.48;ReadPosRankSum=-1.041;VQSLOD=5.3485;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,41:62:99:1176,0,547 17 8701423 8701423 A G exonic MFSD6L nonsynonymous SNV MFSD6L:NM_152599:exon1:c.T1016C:p.I339T 0.17 0.14 0.15 0.13 0.23 0.23 0.1935 0.1494 0.0967 0.1180 0.1968 0.2204 0.2029 0.2183 0.2 0.15 0.23 0.15 0.2 rs34184531 . . . . . . . . . . . . . 0.61 0.055 T 0.01 0.144 B 0.012 0.149 B 0.941 0.083 N 1 0.090 P 0.3 0.102 N -2.47 0.890 D -0.37 0.132 N 0.026 0.008 -1.137 0.015 T 0.000 0.001 T . . . -0.773 0.041 0.049 0.632 0.070 0.120 0.168 N c -1.154 -1.125 0.503 0.209 0.615 0.372 0 -0.563 0.111 0.330 0.193 0.237 0.263 0.001 0.137 0.990 0.544 10.368 0.430 Major facilitator superfamily domain ENSG00000185156.4|ENSG00000185156.4 Cells_EBV-transformed_lymphocytes|Pancreas 0.1896 0.1475 0.0992 0.2119 0.1180 0.1950 0.2224 0.2020 0.2169 0.1927 0.1537 0.1026 0.1954 0.1355 0.2052 0.2239 0.1893 het 795.38 81 17 8701423 . A G 795.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.724;DP=81;Dels=0.00;FS=1.962;HRun=0;HaplotypeScore=2.8926;MQ=59.72;MQ0=0;MQRankSum=1.198;QD=9.82;ReadPosRankSum=0.073;VQSLOD=5.9089;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,30:81:99:825,0,1370 17 8701799 8701799 G T exonic MFSD6L nonsynonymous SNV MFSD6L:NM_152599:exon1:c.C640A:p.P214T 0.27 0.24 0.21 0.43 0.19 0.27 0.2190 0.2260 0.2139 0.4539 0.1615 0.1840 0.2186 0.2621 0.2 0.22 0.19 0.25 0.2 rs17854013 COSM4000363 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.34 0.127 T 0.922 0.492 P 0.598 0.488 P 0.107 0.196 N 1.000 0.090 P 2.3 0.659 M 0.94 0.437 T -0.81 0.223 N 0.035 0.015 -0.963 0.386 T 0.000 0.000 T . . . 0.700 0.161 8.830 0.779 0.117 0.227 0.216 N c -0.249 -0.342 1.000 0.424 0.652 0.477 0 3.89 0.439 1.645 0.366 0.098 0.198 0.011 0.184 0.052 0.166 12.075 0.528 . . . 0.2164 0.2244 0.2010 0.1976 0.4615 0.1579 0.1866 0.2117 0.2464 0.2081 0.2306 0.2017 0.1987 0.4440 0.1566 0.1839 0.1820 het 1684.95 137 17 8701799 . G T 1684.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.127;DP=137;Dels=0.00;FS=1.414;HRun=0;HaplotypeScore=5.8724;MQ=59.51;MQ0=0;MQRankSum=0.394;QD=12.30;ReadPosRankSum=0.304;VQSLOD=4.8917;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,69:137:99:1715,0,1900 17 8725214 8725214 - G exonic;splicing PIK3R6;PIK3R6 NM_001290211:exon17:c.1419+1->C;NM_001010855:exon17:c.1827+1->C unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1.0000 1 1 1. 1. 1. . . rs869211942 COSM5022184 1(bone);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 0.9999 0.9999 1.0000 0.9998 1 1.0000 1 1 1 1 1 0.9999 1 hom 1049.93 26 17 8725214 . A AG 1049.93 Mask AC=2;AF=1.00;AN=2;DP=26;FS=0.000;HRun=2;HaplotypeScore=62.5299;MQ=60.83;MQ0=0;QD=40.38;set=variant2 GT:AD:DP:GQ:PL 1/1:0,26:26:78.25:1092,78,0 17 9395231 9395231 G A exonic STX8 synonymous SNV STX8:NM_004853:exon6:c.C456T:p.D152D 0.71 0.47 0.8 0.85 0.86 0.68 0.7856 0.4904 0.7296 0.8332 0.7991 0.8433 0.7852 0.7472 0.73 0.51 0.84 0.7 0.79 rs9893664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7939 0.4818 0.7516 0.8821 0.8344 0.8001 0.8448 0.8029 0.7525 0.7344 0.4850 0.7733 0.8742 0.8273 0.8024 0.8442 0.7965 hom 4006.96 129 17 9395231 . G A 4006.96 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.99;MQ0=0;QD=31.06;VQSLOD=9.5715;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4006,316,0 17 9471711 9471711 T G exonic STX8 synonymous SNV STX8:NM_004853:exon2:c.A94C:p.R32R 0.68 0.28 0.84 0.99 0.8 0.67 0.7574 0.3564 0.8510 0.9854 0.7684 0.7786 0.7987 0.7222 0.64 0.36 0.78 0.61 0.53 rs1133295 COSM5021926 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7702 0.3440 0.8544 0.8309 0.9873 0.7671 0.7757 0.7871 0.7268 0.6699 0.3515 0.8377 0.8609 0.9784 0.7593 0.7816 0.7602 het 733.86 58 17 9471711 . T G 733.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.479;DP=58;Dels=0.00;FS=11.764;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;MQRankSum=1.134;QD=12.65;ReadPosRankSum=-0.039;VQSLOD=4.5187;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,32:58:99:764,0,701 17 9515777 9515777 G A exonic CFAP52 nonsynonymous SNV CFAP52:NM_001080556:exon7:c.G802A:p.E268K,CFAP52:NM_145054:exon8:c.G1006A:p.E336K 0.6 0.31 0.76 0.57 0.76 0.74 0.7106 0.3864 0.7736 0.5709 0.8048 0.7542 0.7412 0.7282 0.64 0.41 0.76 0.54 0.64 rs6503235 COSM148192 1(stomach) . . . . . . . . . . . 0.32 0.135 T 0.001 0.067 B 0.002 0.063 B 0.023 0.266 N 1.000 0.090 P -1.04 0.011 N -2.61 0.900 D 0.26 0.045 N 0.065 0.051 -0.914 0.463 T 0.000 0.000 T . . . 0.566 0.148 7.921 0.962 0.285 0.098 0.153 N c -1.302 -1.166 0.000 0.029 0.487 0.133 0 0.828 0.179 0.658 0.245 -0.352 0.070 0.367 0.257 0.329 0.242 13.102 0.585 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain . . 0.7218 0.3843 0.7722 0.7573 0.5704 0.8061 0.7547 0.7211 0.7280 0.6521 0.3897 0.7387 0.7616 0.5690 0.8210 0.7604 0.7546 hom 3501.51 116 17 9515777 . G A 3501.51 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;QD=30.19;VQSLOD=9.2850;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3501,268,0 17 9729503 9729503 G C exonic GLP2R nonsynonymous SNV GLP2R:NM_004246:exon1:c.G123C:p.R41S 0.0006 . . . 0.003 . 0.0008 0.0003 0 0 0.0002 0.0014 0 0 0.0012 0.0007 0.0014 . . rs114271428 . . . . . . . . . . . . . 0.18 0.219 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.191 N 1.385 0.346 L 0.5 0.556 T -0.2 0.102 N 0.092 0.091 -1.039 0.176 T 0.073 0.294 T 0.011 0.280 T -0.420 0.060 0.346 0.898 0.185 0.068 0.127 N c -1.154 -1.161 0.015 0.126 0.487 0.133 0 0.807 0.178 1.056 0.299 0.126 0.213 0.166 0.237 0.007 0.100 3.234 0.063 . . . 0.0009 0.0002 5.975e-05 0 0 0.0003 0.0018 0.0009 0 0.0008 0.0003 0 0 0 0.0003 0.0013 0.0020 het 473.13 33 17 9729503 . G C 473.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.705;DP=33;Dels=0.00;FS=3.166;HRun=0;HaplotypeScore=1.4105;MQ=59.43;MQ0=0;MQRankSum=-0.524;QD=14.34;ReadPosRankSum=-1.754;VQSLOD=5.2527;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:503,0,424 17 10219113 10219113 C T exonic MYH13 nonsynonymous SNV MYH13:NM_003802:exon29:c.G3881A:p.R1294Q 0.14 0.049 0.15 0.16 0.17 0.23 0.1645 0.0680 0.1821 0.1730 0.1896 0.1535 0.1484 0.2404 0.12 0.059 0.15 0.13 . rs17690195 COSM3755248;COSM3755247 3(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 0.998 0.222 P -1.41 0.006 N -0.89 0.748 T 1.6 0.007 N 0.015 0.032 -1.069 0.097 T 0.000 0.001 T . . . 2.116 0.315 16.96 0.824 0.137 0.095 0.151 N c -0.914 -0.657 0.002 0.092 0.447 0.083 0 3.02 0.338 6.192 0.718 0.103 0.200 1.000 0.715 0.994 0.587 9.342 0.371 Myosin tail . . 0.1673 0.0671 0.1773 0.1597 0.1690 0.1926 0.1530 0.1581 0.2430 0.1343 0.0704 0.1623 0.1523 0.1658 0.1874 0.1513 0.1735 het 1390.17 92 17 10219113 . C T 1390.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.343;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4505;MQ=59.50;MQ0=0;MQRankSum=-1.125;QD=15.11;ReadPosRankSum=-0.445;VQSLOD=5.3212;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,47:92:99:1420,0,1300 17 10223714 10223714 T C exonic MYH13 nonsynonymous SNV MYH13:NM_003802:exon25:c.A3211G:p.M1071V 0.54 0.64 0.66 0.41 0.62 0.39 0.6006 0.6412 0.6818 0.4546 0.5857 0.6321 0.5885 0.4714 0.64 0.65 0.63 0.56 . rs2074877 COSM3765967;COSM3765968 1(bone);1(urinary_tract);1(liver) . . . . . . . . . . . 0.017 0.512 D 0.0 0.026 B 0.002 0.063 B . . . 0.909 0.275 P 2.135 0.597 M -1.61 0.823 D -2.17 0.490 N 0.092 0.199 -0.937 0.431 T 0.000 0.000 T . . . 1.857 0.284 15.33 0.970 0.315 0.897 0.500 D c -0.260 -0.233 0.000 0.035 0.487 0.133 0 1.34 0.209 1.794 0.382 0.961 0.567 0.975 0.345 0.999 0.750 6.008 0.187 Myosin tail ENSG00000006788.8 Esophagus_Mucosa 0.5949 0.6361 0.6659 0.6400 0.4384 0.5848 0.6249 0.6182 0.4640 0.6163 0.6328 0.6787 0.6258 0.4466 0.5854 0.6286 0.6133 het 255.55 28 17 10223714 . T C 255.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.084;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9132;MQ=54.85;MQ0=1;MQRankSum=-0.025;QD=9.13;ReadPosRankSum=-1.110;VQSLOD=2.2252;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,11:28:99:286,0,445 17 10243717 10243717 G A exonic MYH13 synonymous SNV MYH13:NM_003802:exon17:c.C1896T:p.G632G 0.76 0.62 0.84 0.94 0.82 0.67 0.8124 0.6757 0.8626 0.9386 0.8276 0.8243 0.8191 0.7373 0.79 0.7 0.83 0.73 . rs3760423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8155 0.6676 0.8511 0.7966 0.9393 0.8298 0.8276 0.8005 0.7350 0.7876 0.6752 0.8425 0.8046 0.9427 0.8268 0.8228 0.7996 hom 1365.47 49 17 10243717 . G A 1365.47 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.87;VQSLOD=13.8540;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1398,120,0 17 10296486 10296486 G A exonic MYH8 synonymous SNV MYH8:NM_002472:exon36:c.C5208T:p.D1736D 0.095 0.021 0.14 0.002 0.29 0.057 0.1761 0.0477 0.1059 0.0003 0.2052 0.2527 0.1960 0.0761 0.18 0.054 0.24 0.12 0.21 rs33969260 COSM5021933 1(bone) Benign|Likely benign not_specified|Hecht_syndrome RCV000117693.2|RCV000393720.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0265226:158300:ORPHA3377:8757006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1755 0.0444 0.1129 0.2626 0.0006 0.2038 0.2519 0.2089 0.0760 0.1681 0.0561 0.1435 0.2318 0.0012 0.2122 0.2385 0.2098 het 3948.81 242 17 10296486 . G A 3948.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.079;DP=242;DS;Dels=0.00;FS=4.495;HRun=0;HaplotypeScore=2.7157;MQ=59.71;MQ0=0;MQRankSum=-0.674;QD=16.32;ReadPosRankSum=0.591;VQSLOD=5.2877;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:121,121:242:99:3325,0,3188 17 10297658 10297658 A G exonic MYH8 nonsynonymous SNV MYH8:NM_002472:exon35:c.T5074C:p.W1692R 0.49 0.76 0.49 0.12 0.63 0.34 0.5096 0.7293 0.3773 0.1127 0.5266 0.5861 0.4857 0.3569 0.63 0.72 0.58 0.53 0.61 rs8069834 COSM3765969 1(bone);3(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign|Likely benign not_specified|Hecht_syndrome RCV000117692.2|RCV000341726.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0265226:158300:ORPHA3377:8757006 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.374 N 1.000 0.194 P -4.235 0.000 N -0.82 0.741 T 5.28 0.000 N 0.076 0.067 -0.892 0.488 T 0.000 0.000 T . . . 0.574 0.149 7.971 0.775 0.115 0.344 0.248 N c -1.241 -0.883 0.007 0.115 0.500 0.196 0 1.84 0.242 0.738 0.256 -0.403 0.062 0.998 0.411 0.995 0.604 8.832 0.341 Myosin tail . . 0.5008 0.7308 0.3966 0.5425 0.1132 0.5222 0.5917 0.5334 0.3531 0.5858 0.7181 0.4391 0.5331 0.1202 0.5288 0.5844 0.5420 het 1950.50 193 17 10297658 . A G 1950.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.795;DP=193;Dels=0.00;FS=5.179;HRun=0;HaplotypeScore=3.5152;MQ=59.47;MQ0=0;MQRankSum=0.365;QD=10.11;ReadPosRankSum=-2.560;VQSLOD=3.4242;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,80:193:99:1980,0,2895 17 10304261 10304261 G A exonic MYH8 synonymous SNV MYH8:NM_002472:exon26:c.C3270T:p.I1090I 0.47 0.73 0.48 0.12 0.63 0.32 0.5025 0.7036 0.3741 0.1133 0.5217 0.5810 0.4845 0.3458 0.62 0.69 0.58 0.52 0.58 rs3744552 COSM3765970 1(bone);1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) Benign|Likely benign not_specified|Hecht_syndrome RCV000117688.2|RCV000285844.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0265226:158300:ORPHA3377:8757006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4945 0.7054 0.3932 0.5383 0.1132 0.5171 0.5871 0.5281 0.3424 0.5766 0.6959 0.4388 0.5232 0.1197 0.5221 0.5805 0.5358 het 819.20 75 17 10304261 . G A 819.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.374;DP=75;Dels=0.00;FS=0.893;HRun=1;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;MQRankSum=0.124;QD=10.92;ReadPosRankSum=-0.812;VQSLOD=6.5192;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,31:75:99:849,0,1209 17 10318636 10318636 A G exonic MYH8 synonymous SNV MYH8:NM_002472:exon8:c.T714C:p.T238T 0.86 0.62 0.92 1. 0.94 0.93 0.9224 0.6665 0.9526 0.9998 0.9749 0.9415 0.9361 0.9230 0.86 0.68 0.95 0.85 0.88 rs8068729 . . Benign|Likely benign not_specified|Hecht_syndrome RCV000117694.2|RCV000283465.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0265226:158300:ORPHA3377:8757006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9293 0.6634 0.9503 0.9223 0.9997 0.9754 0.9414 0.9269 0.9245 0.8784 0.6889 0.9391 0.9040 0.9988 0.9808 0.9447 0.9236 hom 6174.98 218 17 10318636 . A G 6174.98 Mask AC=2;AF=1.00;AN=2;DP=218;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8254;MQ=58.96;MQ0=0;QD=28.33;VQSLOD=7.3301;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,218:218:99:6174,478,0 17 10346781 10346781 T C exonic MYH4 nonsynonymous SNV MYH4:NM_017533:exon40:c.A5731G:p.K1911E 0.53 0.33 0.52 0.86 0.37 0.64 0.4950 0.3501 0.6321 0.8732 0.4735 0.4160 0.5132 0.6184 0.4 0.35 0.42 0.5 0.38 rs3744554 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.359 N 1.000 0.090 P -2.615 0.000 N -1.67 0.828 D 2.28 0.003 N 0.041 0.021 -0.931 0.440 T 0.000 0.000 T . . . 0.381 0.131 6.443 0.684 0.084 0.121 0.169 N c -1.038 -0.725 0.000 0.038 0.487 0.133 0 4.23 0.492 2.115 0.413 0.069 0.176 0.940 0.324 0.838 0.350 12.116 0.530 Myosin tail . . 0.5024 0.3517 0.6121 0.4584 0.8735 0.4784 0.4098 0.4716 0.6226 0.4379 0.3641 0.5668 0.4669 0.8686 0.4734 0.4168 0.4612 het 2618.24 208 17 10346781 . T C 2618.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.565;DP=208;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4743;MQ=59.06;MQ0=0;MQRankSum=0.433;QD=12.59;ReadPosRankSum=2.123;VQSLOD=3.2979;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,100:208:99:2648,0,3017 17 10355371 10355371 C T exonic MYH4 nonsynonymous SNV MYH4:NM_017533:exon27:c.G3625A:p.E1209K 0.51 0.3 0.48 0.86 0.33 0.62 0.4522 0.3127 0.6110 0.8730 0.4286 0.3606 0.4823 0.5867 0.35 0.32 0.36 0.47 0.35 rs11651295 COSM3765971 1(liver) . . . . . . . . . . . 0.002 0.721 D 0.984 0.588 D 0.911 0.630 D 0.002 0.374 U 0.000 0.588 P 3.875 0.960 H -1.38 0.803 T -2.68 0.572 D 0.329 0.390 -0.903 0.477 T 0.000 0.000 T . . . 6.170 0.851 28.5 0.999 0.988 0.996 0.982 D c 0.972 0.903 1.000 0.747 0.487 0.133 0 5.51 0.817 7.804 0.844 0.935 0.490 1.000 0.715 0.997 0.653 19.777 0.964 Myosin tail . . 0.4604 0.3131 0.5911 0.3816 0.8734 0.4352 0.3556 0.4283 0.5888 0.3903 0.3270 0.5442 0.36 0.8674 0.4218 0.3588 0.4110 het 1669.22 136 17 10355371 . C T 1669.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.815;DP=136;Dels=0.00;FS=10.917;HRun=1;HaplotypeScore=3.6614;MQ=58.55;MQ0=0;MQRankSum=-0.073;QD=12.27;ReadPosRankSum=1.386;VQSLOD=3.5099;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,60:136:99:1699,0,2385 17 10355763 10355763 T C exonic MYH4 nonsynonymous SNV MYH4:NM_017533:exon26:c.A3318G:p.I1106M 0.53 0.34 0.52 0.86 0.37 0.63 0.4930 0.3575 0.6292 0.8731 0.4732 0.4133 0.5110 0.6127 0.4 0.36 0.42 0.51 0.33 rs917361 COSM3765972 1(liver) . . . . . . . . . . . 0.354 0.121 T 0.0 0.026 B 0.003 0.080 B 0.000 0.452 N 1.000 0.090 P -0.525 0.025 N -1.67 0.828 D 0.45 0.032 N 0.037 0.017 -0.964 0.385 T 0.000 0.000 T . . . 0.658 0.157 8.550 0.823 0.137 0.060 0.118 N c -0.774 -0.581 0.000 0.035 0.487 0.133 0 4.63 0.570 0.033 0.135 0.069 0.176 0.027 0.200 0.803 0.337 4.116 0.095 Myosin tail . . 0.5004 0.3583 0.6104 0.4400 0.8735 0.4777 0.4085 0.4668 0.6170 0.4392 0.3702 0.5634 0.4564 0.8687 0.4725 0.4163 0.4602 het 1699.22 136 17 10355763 . T C 1699.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.795;DP=136;Dels=0.00;FS=6.679;HRun=0;HaplotypeScore=0.0000;MQ=58.72;MQ0=0;MQRankSum=1.322;QD=12.49;ReadPosRankSum=-0.769;VQSLOD=5.0024;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,66:136:99:1729,0,1687 17 10404046 10404046 G A exonic MYH1 synonymous SNV MYH1:NM_005963:exon28:c.C3762T:p.R1254R 0.07 0.018 0.1 0.001 0.23 0.026 0.1319 0.0349 0.0799 0.0002 0.1908 0.1891 0.1498 0.0425 0.14 0.038 0.19 0.098 0.19 rs17811250 COSM5019447 1(bone);9(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1331 0.0333 0.0845 0.1736 0.0002 0.1877 0.1910 0.1572 0.0428 0.1328 0.0422 0.1086 0.1424 0.0012 0.1881 0.1856 0.1684 het 2355.80 183 17 10404046 . G A 2355.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.312;DP=183;Dels=0.00;FS=7.509;HRun=0;HaplotypeScore=2.9954;MQ=59.48;MQ0=0;MQRankSum=-2.777;QD=12.87;ReadPosRankSum=-0.407;VQSLOD=2.7710;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,98:183:99:2386,0,2031 17 10415269 10415269 A G exonic MYH1 nonsynonymous SNV MYH1:NM_005963:exon14:c.T1303C:p.Y435H 0.0036 . 0.0043 . 0.014 0.001 0.0127 0.0012 0.0050 0 0.0110 0.0196 0.0121 0.0047 0.01 0.0014 0.015 . . rs117790102 . . . . . . . . . . . . . 0.0 0.912 D 0.998 0.715 D 0.992 0.790 D 0.032 0.250 U 1.000 0.488 D 4.735 0.996 H -2.44 0.888 D -4.16 0.753 D 0.34 0.401 0.884 0.955 D 0.852 0.951 D . . . 5.143 0.694 25.4 0.998 0.910 0.987 0.855 D c 1.036 0.943 1.000 0.517 0.487 0.133 0 5.73 0.897 9.113 0.936 1.199 0.960 1.000 0.715 0.970 0.461 16.312 0.826 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0117 0.0010 0.0061 0.0158 0 0.0115 0.0182 0.0100 0.0050 0.0127 0.0021 0.0036 0.0132 0 0.0106 0.0214 0.0092 het 4423.25 250 17 10415269 . A G 4423.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.996;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;MQRankSum=1.033;QD=17.69;ReadPosRankSum=-0.372;VQSLOD=6.6505;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3727,0,3577 17 10415840 10415840 A G exonic MYH1 synonymous SNV MYH1:NM_005963:exon12:c.T1032C:p.F344F 0.88 0.68 0.94 1. 0.95 0.93 0.9288 0.7235 0.9577 0.9998 0.9746 0.9428 0.9416 0.9251 0.88 0.74 0.95 0.88 0.9 rs2007027 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9350 0.7202 0.9554 0.9283 0.9997 0.9749 0.9433 0.9323 0.9272 0.8945 0.7410 0.9436 0.9040 0.9988 0.9805 0.9471 0.9318 hom 4973.44 153 17 10415840 . A G 4973.44 Mask AC=2;AF=1.00;AN=2;DP=153;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5296;MQ=58.79;MQ0=0;QD=32.51;VQSLOD=8.9786;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4973,388,0 17 10448769 10448769 A T exonic MYH2 synonymous SNV MYH2:NM_001100112:exon5:c.T399A:p.P133P,MYH2:NM_017534:exon5:c.T399A:p.P133P 0.52 0.3 0.51 0.83 0.38 0.62 0.4808 0.3212 0.6164 0.8526 0.4398 0.4098 0.5066 0.5932 0.38 0.33 0.41 0.48 0.42 rs11078850 . . Benign|Benign not_specified|Inclusion_Body_Myopathy\x2c_Dominant RCV000243742.2|RCV000354660.1 MedGen|MedGen CN169374|CN239244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4869 0.3194 0.5986 0.4504 0.8495 0.4477 0.4026 0.4615 0.5953 0.4139 0.3301 0.5514 0.4305 0.8488 0.4404 0.3998 0.4378 het 3230.05 225 17 10448769 . A T 3230.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.570;DP=225;DS;Dels=0.00;FS=3.249;HRun=0;HaplotypeScore=4.9667;MQ=58.51;MQ0=0;MQRankSum=-0.648;QD=14.36;ReadPosRankSum=1.022;VQSLOD=4.0716;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,112:225:99:3261,0,3364 17 10450816 10450816 T C exonic MYH2 synonymous SNV MYH2:NM_001100112:exon4:c.A324G:p.E108E,MYH2:NM_017534:exon4:c.A324G:p.E108E 0.54 0.38 0.52 0.85 0.39 0.62 0.4922 0.3890 0.6308 0.8665 0.4401 0.4150 0.5110 0.5956 0.41 0.4 0.41 0.5 0.42 rs12600539 COSM3765977 1(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Benign not_specified|Inclusion_Body_Myopathy\x2c_Dominant RCV000250668.2|RCV000390577.1 MedGen|MedGen CN169374|CN239244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4974 0.3853 0.6122 0.4525 0.8668 0.4479 0.4087 0.4707 0.5978 0.4368 0.3977 0.5625 0.4305 0.8679 0.4403 0.4052 0.4408 het 4032.17 250 17 10450816 . T C 4032.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.636;DP=250;DS;Dels=0.00;FS=1.564;HRun=0;HaplotypeScore=7.4615;MQ=59.46;MQ0=0;MQRankSum=0.379;QD=16.13;ReadPosRankSum=0.024;VQSLOD=4.5405;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3375,0,3376 17 10536018 10536018 G A exonic MYH3 synonymous SNV MYH3:NM_002470:exon34:c.C4731T:p.I1577I 0.47 0.25 0.53 0.38 0.76 0.51 0.6089 0.3034 0.4461 0.3640 0.7133 0.7240 0.6278 0.5362 0.58 0.3 0.73 0.47 0.59 rs2285479 COSM4000000 4(haematopoietic_and_lymphoid_tissue);1(biliary_tract) Benign|Likely benign|Likely benign not_specified|Arthrogryposis_multiplex_congenita|Freeman-Sheldon_syndrome RCV000117675.2|RCV000285592.1|RCV000382183.1 MedGen|MedGen:Orphanet|MedGen:OMIM:SNOMED_CT CN169374|C2931264:ORPHA1037|C0265224:193700:52616002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6121 0.2987 0.4684 0.7058 0.3602 0.7149 0.7270 0.6430 0.5392 0.5856 0.3051 0.4904 0.7219 0.3602 0.7242 0.7391 0.6480 het 2988.55 248 17 10536018 . G A 2988.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.505;DP=248;DS;Dels=0.00;FS=1.595;HRun=1;HaplotypeScore=3.8612;MQ=59.66;MQ0=0;MQRankSum=-1.286;QD=12.05;ReadPosRankSum=-0.052;VQSLOD=5.6165;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:137,111:248:99:3019,0,3805 17 10542471 10542471 T G exonic MYH3 synonymous SNV MYH3:NM_002470:exon25:c.A3138C:p.R1046R 0.47 0.24 0.53 0.38 0.76 0.51 0.6085 0.2975 0.4463 0.3634 0.7138 0.7244 0.6289 0.5349 0.58 0.3 0.73 0.47 0.72 rs2285475 COSM4000003 4(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Freeman-Sheldon_syndrome|Arthrogryposis_multiplex_congenita RCV000117668.2|RCV000333596.1|RCV000385658.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen:Orphanet CN169374|C0265224:193700:52616002|C2931264:ORPHA1037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6118 0.2930 0.4684 0.7057 0.3604 0.7152 0.7273 0.6429 0.5379 0.5840 0.2991 0.4904 0.7219 0.3560 0.7243 0.7395 0.6497 het 1993.76 173 17 10542471 . T G 1993.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.282;DP=173;Dels=0.00;FS=2.665;HRun=0;HaplotypeScore=2.7165;MQ=60.00;MQ0=0;MQRankSum=-2.087;QD=11.52;ReadPosRankSum=-0.451;VQSLOD=4.9953;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,82:173:99:2024,0,2342 17 10542765 10542765 A G exonic MYH3 synonymous SNV MYH3:NM_002470:exon24:c.T2952C:p.S984S 0.47 0.24 0.53 0.38 0.76 0.51 0.6094 0.2983 0.4465 0.3671 0.7138 0.7246 0.6283 0.5351 0.58 0.3 0.73 0.45 0.69 rs2285474 COSM4000004 4(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Freeman-Sheldon_syndrome|Arthrogryposis_multiplex_congenita RCV000117665.2|RCV000299935.1|RCV000400223.1 MedGen|MedGen:OMIM:SNOMED_CT|MedGen:Orphanet CN169374|C0265224:193700:52616002|C2931264:ORPHA1037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6119 0.2930 0.4683 0.7058 0.3607 0.7152 0.7273 0.6429 0.5381 0.5841 0.2995 0.4905 0.7219 0.3585 0.7238 0.7398 0.6486 het 546.77 54 17 10542765 . A G 546.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.984;DP=54;Dels=0.00;FS=4.346;HRun=1;HaplotypeScore=1.9305;MQ=60.00;MQ0=0;MQRankSum=-0.026;QD=10.13;ReadPosRankSum=-0.414;VQSLOD=5.8870;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,22:54:99:577,0,1005 17 10542886 10542886 T C exonic MYH3 synonymous SNV MYH3:NM_002470:exon23:c.A2916G:p.T972T 0.47 0.24 0.53 0.38 0.76 0.51 0.6085 0.2976 0.4463 0.3638 0.7135 0.7244 0.6289 0.5348 0.58 0.3 0.73 0.47 0.72 rs2285472 COSM4000005 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign|Likely benign not_specified|Arthrogryposis_multiplex_congenita|Freeman-Sheldon_syndrome RCV000117664.2|RCV000277869.1|RCV000311920.1 MedGen|MedGen:Orphanet|MedGen:OMIM:SNOMED_CT CN169374|C2931264:ORPHA1037|C0265224:193700:52616002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6118 0.2931 0.4684 0.7057 0.3604 0.7147 0.7273 0.6431 0.5379 0.5843 0.2999 0.4905 0.7219 0.3564 0.7239 0.7397 0.6527 het 4260.72 249 17 10542886 . T C 4260.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.635;DP=249;DS;Dels=0.00;FS=4.971;HRun=1;HaplotypeScore=6.6877;MQ=59.81;MQ0=0;MQRankSum=-0.536;QD=17.11;ReadPosRankSum=0.318;VQSLOD=3.8294;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,127:249:99:3583,0,3633 17 10543463 10543463 T C exonic MYH3 synonymous SNV MYH3:NM_002470:exon22:c.A2532G:p.A844A 0.47 0.24 0.53 0.38 0.76 0.51 0.6085 0.2976 0.4463 0.3634 0.7140 0.7244 0.6289 0.5349 0.58 0.3 0.73 0.47 0.72 rs2285469 COSM4000006 4(haematopoietic_and_lymphoid_tissue);3(large_intestine) Benign|Likely benign|Likely benign not_specified|Arthrogryposis_multiplex_congenita|Freeman-Sheldon_syndrome RCV000117662.3|RCV000282605.1|RCV000337349.1 MedGen|MedGen:Orphanet|MedGen:OMIM:SNOMED_CT CN169374|C2931264:ORPHA1037|C0265224:193700:52616002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6118 0.2932 0.4683 0.7057 0.3604 0.7152 0.7274 0.6428 0.5380 0.5840 0.2997 0.4892 0.7219 0.3571 0.7242 0.7393 0.6503 het 2543.96 208 17 10543463 . T C 2543.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.297;DP=208;Dels=0.00;FS=2.383;HRun=1;HaplotypeScore=2.2430;MQ=59.20;MQ0=0;MQRankSum=0.597;QD=12.23;ReadPosRankSum=1.781;VQSLOD=5.5163;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,99:208:99:2574,0,2864 17 10544416 10544416 G T exonic MYH3 synonymous SNV MYH3:NM_002470:exon19:c.C2151A:p.G717G . . . . . . 0.6092 0.2998 0.4463 0.3634 0.7136 0.7247 0.6289 0.5351 0.58 0.29 0.73 0.47 0.72 rs876657 COSM4000007 4(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Arthrogryposis_multiplex_congenita|Freeman-Sheldon_syndrome RCV000117661.2|RCV000324188.1|RCV000360244.1 MedGen|MedGen:Orphanet|MedGen:OMIM:SNOMED_CT CN169374|C2931264:ORPHA1037|C0265224:193700:52616002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6117 0.2931 0.4683 0.7053 0.3601 0.7151 0.7274 0.6431 0.5379 0.5846 0.2995 0.4892 0.7219 0.3566 0.7244 0.7405 0.6524 het 1456.07 192 17 10544416 . G T 1456.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.765;DP=192;Dels=0.00;FS=8.108;HRun=0;HaplotypeScore=8.6301;MQ=59.23;MQ0=0;MQRankSum=-0.501;QD=7.58;ReadPosRankSum=1.510;VQSLOD=2.8216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:130,62:192:99:1486,0,3155 17 10614442 10614442 A G exonic ADPRM nonsynonymous SNV ADPRM:NM_020233:exon4:c.A1010G:p.E337G 0.49 0.69 0.44 0.39 0.48 0.36 0.4396 0.6454 0.3779 0.3784 0.4563 0.4417 0.4324 0.3701 0.51 0.65 0.44 0.47 0.43 rs406446 COSM3765978 1(liver) . . . . . . . . . . . 0.024 0.477 D 0.18 0.274 B 0.035 0.214 B 0.849 0.090 N 1 0.090 P 1.95 0.526 M 1.43 0.330 T -1.09 0.283 N 0.052 0.034 -0.942 0.423 T 0.000 0.000 T . . . 1.744 0.271 14.66 0.992 0.542 0.312 0.240 N c -0.480 -0.440 0.989 0.317 0.707 0.730 0 5.15 0.702 3.265 0.510 1.140 0.893 0.993 0.376 0.262 0.230 12.589 0.556 . ENSG00000133028.6|ENSG00000263400.2|ENSG00000264016.2|ENSG00000187824.4|ENSG00000109063.10|ENSG00000273290.1|ENSG00000133028.6|ENSG00000187824.4|ENSG00000187824.4|ENSG00000264176.1|ENSG00000187824.4|ENSG00000264176.1|ENSG00000187824.4|ENSG00000133028.6|ENSG00000187824.4|ENSG00000187824.4|ENSG00000187824.4|ENSG00000187824.4|ENSG00000187824.4|ENSG00000187824.4|ENSG00000109063.10|ENSG00000170222.11|ENSG00000187824.4|ENSG00000264176.1|ENSG00000187824.4|ENSG00000133028.6|ENSG00000109063.10|ENSG00000273290.1|ENSG00000133028.6|ENSG00000170222.11|ENSG00000263400.2|ENSG00000187824.4|ENSG00000263400.2|ENSG00000263400.2|ENSG00000187824.4|ENSG00000263400.2|ENSG00000187824.4|ENSG00000273290.1|ENSG00000264176.1|ENSG00000187824.4|ENSG00000273290.1|ENSG00000273290.1|ENSG00000170222.11|ENSG00000264176.1|ENSG00000187824.4|ENSG00000109063.10|ENSG00000133028.6|ENSG00000187824.4|ENSG00000187824.4|ENSG00000187824.4|ENSG00000133028.6|ENSG00000133028.6|ENSG00000170222.11|ENSG00000187824.4|ENSG00000187824.4|ENSG00000264016.2|ENSG00000187824.4|ENSG00000109063.10|ENSG00000133028.6|ENSG00000170222.11|ENSG00000263388.1|ENSG00000263400.2|ENSG00000263508.1|ENSG00000264016.2|ENSG00000187824.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4352 0.6463 0.3966 0.5150 0.3788 0.4445 0.4353 0.4430 0.3696 0.4925 0.6313 0.4123 0.5033 0.3679 0.4325 0.4461 0.4532 het 940.65 88 17 10614442 . A G 940.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.875;DP=88;Dels=0.00;FS=15.569;HRun=1;HaplotypeScore=2.5873;MQ=60.00;MQ0=0;MQRankSum=0.484;QD=10.69;ReadPosRankSum=0.056;VQSLOD=3.8281;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,34:88:99:971,0,1374 17 11511457 11511457 C T exonic DNAH9 synonymous SNV DNAH9:NM_001372:exon2:c.C429T:p.P143P 0.44 0.17 0.56 0.54 0.42 0.65 0.4522 0.2005 0.6411 0.5467 0.3689 0.4129 0.4336 0.6250 0.35 0.21 0.41 0.35 0.17 rs11078022 COSM5425443 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454957.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4604 0.1952 0.6355 0.4809 0.5419 0.3788 0.4070 0.4558 0.6101 0.3567 0.2082 0.6065 0.4371 0.5173 0.4040 0.3941 0.4338 het 3059.74 250 17 11511457 . C T 3059.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.680;DP=250;DS;Dels=0.00;FS=1.021;HRun=0;HaplotypeScore=5.3019;MQ=59.08;MQ0=0;MQRankSum=2.877;QD=12.24;ReadPosRankSum=0.008;VQSLOD=4.4692;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:3090,0,3774 17 11523082 11523082 A G exonic DNAH9 nonsynonymous SNV DNAH9:NM_001372:exon6:c.A1334G:p.Q445R 0.99 0.97 1. 1. 1. 1. 0.9975 0.9739 0.9979 1 1 0.9999 1 1 0.99 0.98 1. 0.98 0.8 rs9892256 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.380 N 1 0.090 P -3.33 0.000 N 1.22 0.370 T 3.31 0.001 N 0.031 0.012 -0.966 0.381 T 0.000 0.000 T . . . -1.560 0.015 0.002 0.149 0.003 0.008 0.033 N c -1.391 -1.136 0.000 0.065 0.487 0.133 0 4.0 0.455 3.935 0.560 -0.276 0.085 0.955 0.331 0.030 0.147 9.689 0.391 Dynein heavy chain\x2c domain-1 . . 0.9981 0.9742 0.9985 1 1 1 0.9999 0.9995 1.0000 0.9923 0.9729 0.9976 1 1 1 0.9999 1 hom 4821.95 154 17 11523082 . A G 4821.95 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6629;MQ=59.73;MQ0=0;QD=31.31;VQSLOD=8.4949;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:154:99:4798,388,0 17 11583089 11583089 T C exonic DNAH9 synonymous SNV DNAH9:NM_001372:exon18:c.T3369C:p.D1123D 0.95 0.92 0.97 0.91 0.99 0.96 0.9722 0.9271 0.9588 0.9149 0.9991 0.9881 0.9703 0.9651 0.97 0.93 0.99 0.96 1. rs8071438 COSM4000011 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455005.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9727 0.9278 0.9599 0.9673 0.9133 0.9991 0.9886 0.9792 0.9658 0.9684 0.9285 0.9558 0.9768 0.9125 0.9994 0.9896 0.9898 hom 4661.66 155 17 11583089 . T C 4661.66 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.486;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5362;MQ=59.13;MQ0=0;MQRankSum=-0.771;QD=30.08;ReadPosRankSum=-0.816;VQSLOD=8.9723;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,154:155:99:4634,346,0 17 11648332 11648332 C T exonic DNAH9 synonymous SNV DNAH9:NM_001372:exon31:c.C6330T:p.N2110N 0.77 0.56 0.84 0.93 0.79 0.81 0.7938 0.5951 0.8922 0.9103 0.7298 0.8007 0.7874 0.7872 0.74 0.61 0.8 0.73 0.82 rs3744578 COSM3765980 1(haematopoietic_and_lymphoid_tissue);1(liver) Benign not_specified RCV000455672.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7973 0.5989 0.8803 0.7703 0.9115 0.7276 0.8011 0.8060 0.7852 0.7380 0.5942 0.8505 0.8179 0.9154 0.7208 0.7964 0.7669 het 1753.47 134 17 11648332 . C T 1753.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.198;DP=134;Dels=0.00;FS=0.651;HRun=2;HaplotypeScore=4.4067;MQ=58.85;MQ0=0;MQRankSum=0.125;QD=13.09;ReadPosRankSum=-1.092;VQSLOD=5.7954;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,71:134:99:1783,0,1675 17 11757556 11757556 C G exonic DNAH9 synonymous SNV DNAH9:NM_001372:exon50:c.C9744G:p.P3248P 0.4 0.33 0.59 0.34 0.42 0.41 0.4193 0.3246 0.6771 0.3732 0.3989 0.4018 0.3744 0.4035 0.4 0.34 0.43 0.28 0.39 rs12449553 COSM148194 1(bone);1(stomach);1(liver);1(thyroid);1(large_intestine) Benign not_specified RCV000455076.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4326 0.3249 0.6650 0.3496 0.3787 0.4056 0.4055 0.4320 0.4077 0.3944 0.3358 0.6295 0.3576 0.3828 0.4255 0.4095 0.4061 het 2319.67 249 17 11757556 . C G 2319.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.314;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.5310;MQ=59.10;MQ0=0;MQRankSum=1.807;QD=9.32;ReadPosRankSum=-1.570;VQSLOD=3.4284;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:147,102:249:99:2350,0,3901 17 11786951 11786951 T C exonic DNAH9 synonymous SNV DNAH9:NM_001372:exon56:c.T10855C:p.L3619L 0.39 0.13 0.37 0.46 0.53 0.52 0.4528 0.1863 0.2692 0.4901 0.4598 0.5082 0.4559 0.5033 0.41 0.2 0.51 0.24 0.57 rs8070256 COSM148195 1(bone);1(stomach);1(liver);1(oesophagus);1(large_intestine);1(biliary_tract) Benign not_specified RCV000455867.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4491 0.1828 0.2820 0.5262 0.4885 0.4592 0.5048 0.4796 0.5023 0.3989 0.1889 0.3385 0.5467 0.5285 0.4473 0.4907 0.4827 het 1574.92 130 17 11786951 . T C 1574.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.224;DP=130;Dels=0.00;FS=4.330;HRun=0;HaplotypeScore=10.6177;MQ=59.18;MQ0=0;MQRankSum=1.648;QD=12.11;ReadPosRankSum=1.458;VQSLOD=3.7664;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,59:130:99:1605,0,1788 17 11865462 11865462 G A exonic DNAH9 nonsynonymous SNV DNAH9:NM_004662:exon14:c.G2058A:p.M686I,DNAH9:NM_001372:exon68:c.G13122A:p.M4374I 0.16 0.1 0.24 0.18 0.19 0.12 0.1841 0.1257 0.2979 0.1836 0.2074 0.1825 0.1597 0.1397 0.16 0.13 0.18 0.12 0.18 rs1990236 COSM3755258 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000455165.1 MedGen CN169374 . . . . . . 0.021 0.491 D 0.35 0.319 B 0.35 0.410 B 0.000 0.843 D 0.000 0.588 P 1.49 0.374 L 3.09 0.084 T -3.37 0.666 D 0.128 0.214 -0.911 0.467 T 0.000 0.000 T . . . 4.685 0.628 24.6 0.969 0.308 0.969 0.713 D c 0.287 0.394 0.090 0.161 0.554 0.246 0 4.05 0.462 6.826 0.749 0.953 0.551 1.000 0.715 1.000 0.888 13.894 0.631 Dynein heavy chain domain;Dynein heavy chain\x2c domain-1 ENSG00000065559.10|ENSG00000065559.10 Artery_Aorta|Cells_Transformed_fibroblasts 0.1896 0.1237 0.2823 0.1612 0.1900 0.2035 0.1835 0.1924 0.1418 0.1757 0.1330 0.2482 0.1523 0.2041 0.2068 0.1840 0.2169 het 1857.95 145 17 11865462 . G A 1857.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.629;DP=145;Dels=0.00;FS=6.399;HRun=0;HaplotypeScore=7.6727;MQ=58.65;MQ0=0;MQRankSum=-0.469;QD=12.81;ReadPosRankSum=-0.188;VQSLOD=4.0723;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,68:145:99:1888,0,2269 17 13980350 13980350 G A exonic COX10 nonsynonymous SNV COX10:NM_001303:exon3:c.G476A:p.R159Q 0.46 0.44 0.54 0.38 0.51 0.49 0.4945 0.4462 0.5799 0.3777 0.4401 0.5054 0.5177 0.5025 0.49 0.44 0.52 0.47 0.57 rs2072279 COSM5000714 1(bone);1(pancreas) Benign|Benign|Benign not_specified|Leigh_syndrome|Cytochrome-c_oxidase_deficiency RCV000124574.1|RCV000268376.1|RCV000322790.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0023264:256000:ORPHA506:29570005|C0268237:220110:ORPHA254905:67434000 . . . . . . 0.295 0.147 T 0.011 0.147 B 0.008 0.127 B 0.001 0.406 N 0.005 0.810 P 2.8 0.819 M 0.45 0.654 T -1.43 0.352 N 0.36 0.727 -0.932 0.438 T 0.000 0.000 T . . . 5.753 0.786 27.0 0.997 0.797 0.983 0.813 D c 0.074 0.220 1.000 0.747 0.732 0.924 0 5.49 0.809 6.889 0.753 1.048 0.713 1.000 0.715 0.988 0.529 17.932 0.889 . ENSG00000141028.6|ENSG00000223510.2|ENSG00000223510.2|ENSG00000141028.6|ENSG00000236088.5|ENSG00000223510.2|ENSG00000223510.2|ENSG00000223510.2|ENSG00000223510.2|ENSG00000223510.2|ENSG00000141028.6|ENSG00000223510.2|ENSG00000223510.2|ENSG00000141028.6|ENSG00000141028.6|ENSG00000223510.2|ENSG00000223510.2|ENSG00000141028.6|ENSG00000223510.2|ENSG00000141028.6|ENSG00000223510.2|ENSG00000141028.6|ENSG00000223510.2|ENSG00000223510.2|ENSG00000223510.2|ENSG00000223510.2|ENSG00000141028.6|ENSG00000141028.6|ENSG00000223510.2|ENSG00000223510.2|ENSG00000223510.2|ENSG00000141028.6|ENSG00000223510.2|ENSG00000141028.6|ENSG00000223510.2|ENSG00000223510.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.4963 0.4419 0.5828 0.4992 0.3635 0.4406 0.5059 0.5075 0.5056 0.4763 0.4552 0.5421 0.5 0.3614 0.4344 0.5080 0.4540 hom 1882.05 59 17 13980350 . G A 1882.05 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=31.90;VQSLOD=9.0763;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1915,147,0 17 14005439 14005439 G A exonic COX10 synonymous SNV COX10:NM_001303:exon4:c.G504A:p.L168L 0.49 0.51 0.48 0.35 0.59 0.53 0.5223 0.5119 0.4276 0.3369 0.4911 0.5682 0.5518 0.5175 0.56 0.51 0.58 0.55 0.67 rs2159132 COSM4000019 1(bone);2(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign not_specified|Leigh_syndrome|Cytochrome-c_oxidase_deficiency RCV000124568.1|RCV000264198.1|RCV000377462.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0023264:256000:ORPHA506:29570005|C0268237:220110:ORPHA254905:67434000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5179 0.5113 0.4304 0.5734 0.3323 0.4936 0.5719 0.5510 0.5190 0.5220 0.5113 0.4543 0.5497 0.3231 0.5026 0.5586 0.5 het 2696.53 213 17 14005439 . G A 2696.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.913;DP=213;Dels=0.00;FS=3.187;HRun=0;HaplotypeScore=4.8448;MQ=59.35;MQ0=0;MQRankSum=0.319;QD=12.66;ReadPosRankSum=-1.117;VQSLOD=5.3225;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,106:213:99:2727,0,3060 17 15207364 15207364 T G exonic TEKT3 synonymous SNV TEKT3:NM_031898:exon9:c.A1362C:p.T454T 0.79 0.85 0.75 0.72 0.77 0.81 0.7737 0.8438 0.7739 0.6867 0.7994 0.7631 0.7489 0.8092 0.79 0.84 0.76 0.81 0.77 rs13961 COSM3765991 1(bone);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7729 0.8375 0.7806 0.7480 0.6898 0.7961 0.7637 0.7619 0.8055 0.7879 0.8366 0.7852 0.7351 0.6809 0.8106 0.7685 0.7653 het 1074.19 121 17 15207364 . T G 1074.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.332;DP=121;Dels=0.00;FS=0.733;HRun=1;HaplotypeScore=2.4836;MQ=59.50;MQ0=0;MQRankSum=0.085;QD=8.88;ReadPosRankSum=-0.790;VQSLOD=6.0312;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,42:121:99:1104,0,2109 17 15217437 15217437 C G exonic TEKT3 nonsynonymous SNV TEKT3:NM_031898:exon6:c.G845C:p.G282A 0.43 0.29 0.39 0.47 0.47 0.55 0.4566 0.3223 0.3785 0.4340 0.5067 0.4723 0.4648 0.5235 0.43 0.33 0.48 0.4 0.48 rs230898 COSM3755269 1(bone);1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.148 0.248 T 0.001 0.067 B 0.004 0.093 B 0.000 0.629 D 0.128 0.356 P 1.995 0.543 M 4.34 0.024 T -0.51 0.170 N 0.037 0.397 -0.938 0.429 T 0.000 0.000 T . . . 1.506 0.243 13.35 0.940 0.236 0.975 0.750 D c -0.224 -0.041 0.988 0.312 0.638 0.428 0 5.43 0.789 5.860 0.691 0.852 0.362 1.000 0.715 0.251 0.228 14.451 0.668 . ENSG00000125409.8|ENSG00000125409.8|ENSG00000125409.8|ENSG00000125409.8|ENSG00000125409.8|ENSG00000125409.8|ENSG00000125409.8|ENSG00000125409.8|ENSG00000125409.8|ENSG00000125409.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial 0.4568 0.3177 0.3907 0.3984 0.4329 0.5071 0.4772 0.4571 0.5197 0.4442 0.3263 0.4236 0.3808 0.4363 0.5287 0.4946 0.4705 het 1911.50 142 17 15217437 . C G 1911.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.713;DP=142;Dels=0.00;FS=1.346;HRun=1;HaplotypeScore=3.6560;MQ=59.44;MQ0=0;MQRankSum=-0.247;QD=13.46;ReadPosRankSum=-1.652;VQSLOD=5.8313;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,68:142:99:1941,0,1920 17 15234895 15234895 C T exonic TEKT3 nonsynonymous SNV TEKT3:NM_031898:exon3:c.G8A:p.R3H 0.2 0.15 0.17 0.22 0.24 0.2 0.2204 0.1604 0.1300 0.2667 0.2018 0.2403 0.2477 0.2221 0.21 0.16 0.24 0.17 0.2 rs7226363 COSM3764584 1(liver);1(central_nervous_system) . . . . . . . . . . . 0.133 0.264 T 0.208 0.282 B 0.009 0.133 B 0.763 0.096 N 1 0.090 P 0 0.065 N 4.15 0.425 T 0.34 0.048 N 0.035 0.284 -1.052 0.139 T 0.000 0.000 T . . . -0.450 0.058 0.292 0.800 0.125 0.131 0.175 N c -1.684 -1.798 1.000 0.458 0.554 0.246 0 -11.0 0.001 0.797 0.265 -1.897 0.006 0.007 0.175 0.000 0.016 1.010 0.014 . ENSG00000125409.8|ENSG00000125409.8|ENSG00000125409.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Breast_Mammary_Tissue 0.2155 0.1595 0.1338 0.2523 0.2596 0.2050 0.2390 0.2225 0.2189 0.2083 0.1606 0.1468 0.2550 0.2836 0.1881 0.2336 0.2301 het 542.80 39 17 15234895 . C T 542.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.920;DP=39;Dels=0.00;FS=1.795;HRun=0;HaplotypeScore=0.5784;MQ=58.44;MQ0=0;MQRankSum=2.065;QD=13.92;ReadPosRankSum=0.042;VQSLOD=5.1052;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,19:39:99:573,0,526 17 15406197 15406197 A T exonic TVP23C nonsynonymous SNV TVP23C:NM_145301:exon6:c.T812A:p.L271Q 0.031 0.0038 0.039 0.022 0.067 0.034 0.0535 0.0150 0.0543 0.0157 0.0557 0.0661 0.0498 0.0413 0.052 0.015 0.071 0.022 0.057 rs12150518 COSM3755272 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.034 0.191 B 0.007 0.121 B . . . 0.730 0.337 D 0 0.065 N 1.51 0.309 T -0.1 0.085 N 0.103 0.107 -1.019 0.241 T 0.002 0.006 T . . . 3.460 0.474 23.0 0.881 0.172 0.085 0.143 N c -1.123 -1.102 1.000 0.747 0.495 0.175 0 -1.86 0.073 0.058 0.141 -0.239 0.092 0.982 0.353 0.725 0.315 0.333 0.003 . ENSG00000223878.1|ENSG00000125409.8|ENSG00000223878.1|ENSG00000125409.8|ENSG00000223878.1|ENSG00000223878.1|ENSG00000223878.1|ENSG00000234324.1|ENSG00000223878.1|ENSG00000251537.4|ENSG00000223878.1 Adipose_Subcutaneous|Artery_Aorta|Brain_Cerebellum|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0529 0.0136 0.0577 0.0616 0.0180 0.0518 0.0675 0.0471 0.0326 0.0463 0.0141 0.0647 0.0629 0.0148 0.0547 0.0647 0.0542 het 729.25 58 17 15406197 . A T 729.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.468;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=57.98;MQ0=0;MQRankSum=0.094;QD=12.57;ReadPosRankSum=0.889;VQSLOD=6.0928;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:759,0,765 17 15554504 15554504 G A exonic TRIM16 synonymous SNV TRIM16:NM_006470:exon4:c.C420T:p.A140A,TRIM16:NM_001348120:exon5:c.C420T:p.A140A,TRIM16:NM_001348119:exon7:c.C420T:p.A140A 0.28 0.28 0.28 0.31 0.21 0.29 0.2511 0.2928 0.2965 0.3227 0.2156 0.2221 0.2126 0.2895 0.25 0.3 0.23 0.21 0.15 rs4792642 COSM3765993 1(bone);1(haematopoietic_and_lymphoid_tissue);1(liver);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2517 0.2901 0.3014 0.1697 0.3273 0.2098 0.2263 0.2321 0.2882 0.2525 0.2851 0.2746 0.1821 0.3428 0.2187 0.2332 0.2312 het 1533.84 120 17 15554504 . G A 1533.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.869;DP=120;Dels=0.00;FS=4.442;HRun=2;HaplotypeScore=0.9947;MQ=59.44;MQ0=0;MQRankSum=0.211;QD=12.78;ReadPosRankSum=1.296;VQSLOD=6.2288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,55:120:99:1564,0,1959 17 15611495 15611495 T C exonic ZNF286A nonsynonymous SNV ZNF286A:NM_001288644:exon3:c.T175C:p.Y59H,ZNF286A:NM_001288643:exon4:c.T238C:p.Y80H,ZNF286A:NM_001130842:exon5:c.T268C:p.Y90H,ZNF286A:NM_001288642:exon5:c.T397C:p.Y133H,ZNF286A:NM_020652:exon5:c.T268C:p.Y90H 0.51 0.57 0.42 0.63 0.37 0.51 0.4247 0.5695 0.3903 0.6348 0.3545 0.3675 0.4009 0.5075 0.43 0.56 0.37 0.46 0.36 rs3760299 COSM436076 1(prostate);1(large_intestine) . . . . . . . . . . . 0.11 0.398 T 0.001 0.067 B 0.001 0.040 B . . . 0.999 0.360 P 0.595 0.155 N 5.68 0.008 T -1.34 0.334 N 0.048 0.217 -1.062 0.113 T 0.000 0.000 T . . . 2.340 0.342 18.43 0.986 0.427 0.213 0.211 N c -0.722 -0.632 0.000 0.055 0.707 0.730 0 3.9 0.441 1.733 0.375 0.089 0.194 0.037 0.206 0.485 0.268 7.510 0.266 Krueppel-associated box . . 0.4108 0.5614 0.3861 0.3390 0.6324 0.3485 0.3640 0.3868 0.4937 0.4392 0.5582 0.3885 0.3121 0.6561 0.3548 0.3738 0.3992 het 460.10 46 17 15611495 . T C 460.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=59.19;MQ0=0;MQRankSum=0.736;QD=10.00;ReadPosRankSum=2.186;VQSLOD=5.8943;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,19:46:99:490,0,764 17 15644506 15644506 C T exonic TBC1D26 nonsynonymous SNV TBC1D26:NM_178571:exon10:c.C617T:p.A206V 0.25 0.082 0.27 0.26 0.39 0.3 0.3445 0.1213 0.2546 0.2622 0.4081 0.3990 0.3559 0.3376 0.31 0.13 0.4 0.22 0.42 rs11650318 COSM3755280 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . 1.0 0.899 D 1.0 0.971 D . . . 0.473 0.319 P 2.875 0.836 M 3.01 0.091 T . . . 0.227 0.278 . . . . . . . . . 4.221 0.566 23.9 0.996 0.755 0.607 0.310 D n 0.254 0.345 0.000 0.012 0.581 0.326 0 0.706 0.172 0.211 0.171 0.436 0.276 0.001 0.137 0.016 0.126 . . Rab-GTPase-TBC domain ENSG00000265519.1 Cells_Transformed_fibroblasts 0.3479 0.1182 0.2732 0.4052 0.2704 0.4077 0.3986 0.3627 0.3398 0.3239 0.1188 0.3198 0.3742 0.2848 0.4230 0.4202 0.3758 het 1848.62 135 17 15644506 . C T 1848.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.174;DP=135;Dels=0.00;FS=2.246;HRun=3;HaplotypeScore=4.7763;MQ=58.53;MQ0=0;MQRankSum=1.270;QD=13.69;ReadPosRankSum=1.252;VQSLOD=5.2079;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,68:135:99:1879,0,1760 17 15645289 15645289 G A exonic TBC1D26 nonsynonymous SNV TBC1D26:NM_178571:exon11:c.G700A:p.G234S 0.25 0.081 0.27 0.25 0.39 0.3 0.3445 0.1205 0.2545 0.2618 0.4070 0.3990 0.3563 0.3380 0.31 0.13 0.4 0.22 0.39 rs17855672 COSM3755281 1(bone);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.917 0.488 P 0.28 0.386 B . . . 1 0.090 P 1.485 0.373 L 1.44 0.327 T . . . 0.082 0.095 . . . . . . . . . -0.134 0.081 1.492 0.803 0.127 0.122 0.169 N n 0.109 0.255 0.000 0.029 0.581 0.326 0 -0.5 0.114 1.211 0.318 -0.580 0.045 0.003 0.159 0.003 0.074 3.618 0.076 Rab-GTPase-TBC domain ENSG00000170425.3|ENSG00000265519.1|ENSG00000170425.3 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Testis 0.3478 0.1175 0.2728 0.4053 0.2701 0.4080 0.3983 0.3629 0.3400 0.3237 0.1183 0.3189 0.3767 0.2872 0.4230 0.4201 0.3770 het 1563.63 118 17 15645289 . G A 1563.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.221;DP=118;Dels=0.00;FS=2.432;HRun=1;HaplotypeScore=4.5506;MQ=59.49;MQ0=0;MQRankSum=0.032;QD=13.25;ReadPosRankSum=1.106;VQSLOD=5.6230;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,63:118:99:1594,0,1375 17 16325968 16325968 A G exonic TRPV2 synonymous SNV TRPV2:NM_016113:exon4:c.A390G:p.G130G 0.39 0.65 0.38 0.23 0.39 0.22 0.3766 0.6057 0.3165 0.2351 0.4766 0.3894 0.3830 0.2531 0.46 0.59 0.39 0.47 0.36 rs8121 COSM148201 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3715 0.6037 0.3203 0.4167 0.2320 0.4711 0.3860 0.3731 0.2506 0.4626 0.6040 0.3365 0.4570 0.2522 0.4634 0.4136 0.4082 hom 2263 69 17 16325968 . A G 2263 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8273;MQ=59.67;MQ0=0;QD=32.80;VQSLOD=9.1025;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2296,181,0 17 16326005 16326005 A C exonic TRPV2 synonymous SNV TRPV2:NM_016113:exon4:c.A427C:p.R143R 0.37 0.59 0.37 0.23 0.39 0.21 0.3993 0.5676 0.3492 0.2678 0.5026 0.4190 0.4121 0.2631 0.44 0.54 0.39 0.47 0.34 rs1129235 COSM3755285 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3647 0.5507 0.3114 0.4161 0.2297 0.4690 0.3852 0.3694 0.2411 0.4494 0.5605 0.3289 0.4570 0.2525 0.4619 0.4125 0.4063 hom 1265.05 43 17 16326005 . A C 1265.05 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=58.92;MQ0=0;QD=29.42;VQSLOD=9.1694;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1298,120,0 17 16336992 16336992 C G exonic TRPV2 synonymous SNV TRPV2:NM_016113:exon13:c.C2094G:p.P698P 0.29 0.31 0.34 0.22 0.36 0.21 0.3311 0.3258 0.2870 0.2245 0.4294 0.3632 0.3562 0.2504 0.36 0.33 0.38 0.34 0.34 rs14039 COSM148202 1(stomach);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3378 0.3252 0.2960 0.4277 0.2254 0.4320 0.3655 0.3486 0.2537 0.3702 0.3386 0.3110 0.4702 0.2497 0.4244 0.3898 0.3783 het 1337.93 128 17 16336992 . C G 1337.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.820;DP=128;Dels=0.00;FS=2.766;HRun=1;HaplotypeScore=3.1209;MQ=59.82;MQ0=0;MQRankSum=0.456;QD=10.45;ReadPosRankSum=-0.736;VQSLOD=5.7315;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,54:128:99:1368,0,1807 17 16842912 16842912 A G exonic TNFRSF13B synonymous SNV TNFRSF13B:NM_012452:exon5:c.T831C:p.S277S 0.6 0.61 0.57 0.8 0.37 0.62 0.4943 0.6134 0.5783 0.7921 0.3719 0.4039 0.5011 0.6165 0.48 0.61 0.41 0.54 0.4 rs11078355 COSM3766008 1(liver);1(thyroid) Benign|Benign not_specified|Common_Variable_Immune_Deficiency\x2c_Dominant RCV000249157.1|RCV000347652.1 MedGen|MedGen CN169374|CN239265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4932 0.6171 0.5628 0.4556 0.7973 0.3537 0.4046 0.4777 0.6160 0.4858 0.6084 0.5513 0.4338 0.8108 0.3403 0.4138 0.4384 hom 2185.86 77 17 16842912 . A G 2185.86 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5925;MQ=60.00;MQ0=0;QD=28.39;VQSLOD=7.5904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:77:99:2219,181,0 17 17039562 17039564 CAG - exonic MPRIP nonframeshift deletion MPRIP:NM_015134:exon6:c.534_536del:p.S189del,MPRIP:NM_201274:exon6:c.534_536del:p.S189del . . . . . . 0.6827 0.6257 0.7711 0.8337 0.6677 0.6402 0.6490 0.7476 . . . . . rs754205741 COSM4594459;COSM249625 1(ovary);1(haematopoietic_and_lymphoid_tissue);1(kidney);1(urinary_tract);1(lung);1(upper_aerodigestive_tract);4(central_nervous_system);1(biliary_tract);2(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7072 0.6382 0.7677 0.6700 0.8390 0.7663 0.6603 0.6846 0.7496 0.7239 0.6987 0.7584 0.6993 0.8555 0.7839 0.7085 0.7516 het 895.95 97 17 17039561 . CCAG C 895.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.160;DP=97;FS=0.000;HRun=0;HaplotypeScore=380.0380;MQ=57.34;MQ0=0;MQRankSum=-0.008;QD=9.05;ReadPosRankSum=-0.530;set=variant2 GT:AD:DP:GQ:PL 0/1:70,28:97:99:935,0,1463 17 17046024 17046024 C A exonic MPRIP nonsynonymous SNV MPRIP:NM_015134:exon8:c.C980A:p.P327Q,MPRIP:NM_201274:exon8:c.C980A:p.P327Q 0.44 0.075 0.5 0.71 0.52 0.55 0.5060 0.1359 0.4444 0.6762 0.6487 0.5284 0.5365 0.5434 0.4 0.14 0.53 0.3 0.52 rs3744137 COSM3766012;COSM3766013 1(liver);1(thyroid) . . . . . . . . . . . 0.039 0.424 D 0.018 0.165 B 0.011 0.145 B . . . 1 0.090 P 1.32 0.331 L 2.18 0.229 T -1.53 0.372 N 0.094 0.129 -0.989 0.328 T 0.000 0.000 T . . . -0.339 0.066 0.539 0.540 0.050 0.238 0.220 N c -0.868 -0.873 0.725 0.230 0.707 0.730 0 1.63 0.228 0.615 0.238 0.935 0.490 0.000 0.063 0.063 0.172 5.453 0.158 . ENSG00000154803.8|ENSG00000154803.8|ENSG00000133030.15|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000154803.8|ENSG00000141030.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.5137 0.1334 0.4528 0.4437 0.6829 0.6495 0.5290 0.4876 0.5474 0.4454 0.1430 0.4569 0.5066 0.6776 0.6438 0.5415 0.5449 het 2079.93 137 17 17046024 . C A 2079.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.260;DP=137;Dels=0.00;FS=6.143;HRun=1;HaplotypeScore=4.4256;MQ=58.85;MQ0=0;MQRankSum=-0.494;QD=15.18;ReadPosRankSum=-1.309;VQSLOD=4.5288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,73:137:99:2110,0,1695 17 17062241 17062241 C G exonic MPRIP synonymous SNV MPRIP:NM_015134:exon14:c.C1971G:p.A657A,MPRIP:NM_201274:exon14:c.C1971G:p.A657A 0.45 0.076 0.52 0.71 0.54 0.56 0.5233 0.1456 0.4566 0.6763 0.6686 0.5466 0.5562 0.5492 0.4 0.14 0.54 0.25 0.43 rs11551189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5270 0.1359 0.4652 0.4572 0.6834 0.6686 0.5460 0.5046 0.5525 0.4577 0.1456 0.4714 0.5068 0.6764 0.6629 0.5592 0.5634 het 1045.32 97 17 17062241 . C G 1045.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.547;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9889;MQ=58.29;MQ0=0;MQRankSum=0.595;QD=10.78;ReadPosRankSum=0.609;VQSLOD=5.6341;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,42:97:99:1075,0,1503 17 17168164 17168164 G A exonic COPS3 synonymous SNV COPS3:NM_001316358:exon4:c.C258T:p.I86I,COPS3:NM_001316356:exon5:c.C372T:p.I124I,COPS3:NM_001316357:exon5:c.C258T:p.I86I,COPS3:NM_001199125:exon6:c.C513T:p.I171I,COPS3:NM_001316354:exon6:c.C183T:p.I61I,COPS3:NM_001316355:exon6:c.C573T:p.I191I,COPS3:NM_003653:exon6:c.C573T:p.I191I 0.49 0.32 0.53 0.66 0.51 0.48 0.4980 0.3183 0.5749 0.6179 0.6557 0.4986 0.5110 0.4280 0.44 0.33 0.5 0.45 0.49 rs3182911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5059 0.3162 0.5662 0.4482 0.6166 0.6590 0.4953 0.4833 0.4225 0.4834 0.3269 0.5585 0.5 0.6071 0.6581 0.5124 0.5339 hom 3462.20 110 17 17168164 . G A 3462.20 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4471;MQ=60.00;MQ0=0;QD=31.47;VQSLOD=9.1060;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3462,265,0 17 17250159 17250159 C T exonic NT5M synonymous SNV NT5M:NM_020201:exon5:c.C585T:p.T195T 0.13 0.0061 0.15 0.38 0.047 0.14 0.1027 0.0134 0.2278 0.3675 0.0568 0.0576 0.0706 0.1328 0.043 0.015 0.058 0.11 0.0082 rs2240876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1082 0.0122 0.2101 0.0656 0.3694 0.0589 0.0561 0.0878 0.1302 0.0618 0.0144 0.1885 0.0728 0.3641 0.0576 0.0504 0.0643 het 780.64 45 17 17250159 . C T 780.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.842;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8308;MQ=58.12;MQ0=0;MQRankSum=0.942;QD=17.35;ReadPosRankSum=1.394;VQSLOD=4.2276;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,28:45:99:811,0,435 17 17394611 17394611 G A exonic MED9 synonymous SNV MED9:NM_018019:exon2:c.G243A:p.P81P 0.16 0.025 0.29 0.14 0.32 0.1 0.2500 0.0622 0.2945 0.1609 0.3285 0.3083 0.2667 0.1155 0.23 0.073 0.3 0.12 0.28 rs1242489 COSM3766015 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2556 0.0577 0.2912 0.2702 0.1598 0.3308 0.3086 0.2808 0.1144 0.2354 0.0673 0.2828 0.3113 0.1535 0.3239 0.3131 0.3018 het 1565.94 129 17 17394611 . G A 1565.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.418;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9730;MQ=58.00;MQ0=0;MQRankSum=1.182;QD=12.14;ReadPosRankSum=-1.488;VQSLOD=4.8050;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,61:129:99:1596,0,1723 17 17409560 17409560 C T exonic PEMT nonsynonymous SNV PEMT:NM_001267551:exon6:c.G568A:p.V190M,PEMT:NM_007169:exon6:c.G523A:p.V175M,PEMT:NM_148172:exon6:c.G634A:p.V212M,PEMT:NM_148173:exon6:c.G523A:p.V175M,PEMT:NM_001267552:exon7:c.G665A:p.S222N 0.42 0.32 0.56 0.17 0.7 0.44 0.6375 0.4497 0.6032 0.3336 0.7236 0.7335 0.5879 0.5093 0.62 0.41 0.72 0.34 0.33 rs7946 COSM1128813 2(prostate) . . . . . . . . . . . 0.099 0.321 T 0.945 0.525 P 0.539 0.483 P 0.050 0.231 N 1 0.090 P 2.085 0.579 M 0.85 0.471 T -1.97 0.456 N 0.195 0.239 -0.971 0.370 T 0.000 0.000 T . . . 2.972 0.418 22.1 0.805 0.128 0.058 0.116 N c -0.310 -0.498 0.587 0.216 0.706 0.609 0 2.16 0.265 0.091 0.148 0.807 0.329 0.001 0.137 0.022 0.137 5.481 0.159 . . . 0.5890 0.3649 0.5386 0.6274 0.1768 0.6992 0.7183 0.6177 0.4731 0.5987 0.3882 0.5719 0.6225 0.1733 0.7020 0.7396 0.6650 het 265.48 12 17 17409560 . C T 265.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.752;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=0.107;QD=22.12;ReadPosRankSum=0.537;VQSLOD=7.8237;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:2,10:12:42.49:295,0,42 17 17425631 17425631 C T exonic PEMT nonsynonymous SNV PEMT:NM_001267551:exon3:c.G217A:p.V73I,PEMT:NM_001267552:exon3:c.G283A:p.V95I,PEMT:NM_007169:exon3:c.G172A:p.V58I,PEMT:NM_148172:exon3:c.G283A:p.V95I,PEMT:NM_148173:exon3:c.G172A:p.V58I 0.2 0.064 0.28 0.095 0.45 0.17 0.3426 0.1176 0.2235 0.0990 0.4027 0.4575 0.3382 0.2088 0.34 0.13 0.45 0.17 0.46 rs897453 COSM3755304 1(large_intestine) . . . . . . . . . . . 0.667 0.076 T 0.002 0.102 B 0.002 0.063 B 0.305 0.040 N 1 0.090 P -0.36 0.031 N 2.42 0.255 T -0.27 0.129 N 0.042 0.022 -0.926 0.447 T 0.000 0.000 T . . . -0.113 0.083 1.633 0.749 0.105 0.010 0.037 N c -1.465 -1.496 0.986 0.309 0.706 0.609 0 -5.06 0.027 -0.021 0.123 -0.415 0.060 0.000 0.063 0.009 0.108 4.338 0.105 . ENSG00000133027.13 Adipose_Subcutaneous 0.3411 0.1106 0.2355 0.3731 0.0955 0.4123 0.4596 0.3851 0.2102 0.3294 0.13 0.2721 0.3633 0.0778 0.3903 0.4573 0.3867 het 679.22 45 17 17425631 . C T 679.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.151;DP=45;Dels=0.00;FS=9.048;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=-0.730;QD=15.09;ReadPosRankSum=0.614;VQSLOD=4.5070;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,27:45:99:709,0,456 17 17698254 17698254 G A exonic RAI1 synonymous SNV RAI1:NM_030665:exon3:c.G1992A:p.P664P 0.4 0.55 0.44 0.16 0.59 0.22 0.5069 0.5671 0.3578 0.1494 0.5783 0.6255 0.4801 0.2553 0.6 0.56 0.62 0.45 0.61 rs8067439 COSM3766018;COSM3766017 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) other not_specified RCV000082257.8 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5027 0.5675 0.3758 0.5561 0.1481 0.5957 0.6280 0.5456 0.2620 0.5662 0.5773 0.3729 0.5894 0.1335 0.5679 0.6173 0.5532 hom 2883.81 84 17 17698254 . G A 2883.81 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=34.33;VQSLOD=10.1425;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:84:99:2917,229,0 17 17700573 17700573 T C exonic RAI1 synonymous SNV RAI1:NM_030665:exon3:c.T4311C:p.P1437P 0.095 0.27 0.045 0.0069 0.058 0.028 0.0646 0.2579 0.0328 0.0034 0.0746 0.0579 0.0497 0.0254 0.12 0.25 0.06 0.11 0.057 rs4925112 . . other not_specified RCV000082268.8 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0602 0.2514 0.0355 0.0265 0.0026 0.0783 0.0592 0.0582 0.0271 0.1114 0.2482 0.0395 0.0298 0.0012 0.0759 0.0604 0.0697 het 334.27 41 17 17700573 . T C 334.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.099;DP=41;Dels=0.00;FS=1.682;HRun=2;HaplotypeScore=1.6483;MQ=60.00;MQ0=0;MQRankSum=0.744;QD=8.15;ReadPosRankSum=0.961;VQSLOD=5.9035;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,15:41:99:364,0,779 17 17700792 17700792 C T exonic RAI1 synonymous SNV RAI1:NM_030665:exon3:c.C4530T:p.P1510P 0.073 0.19 0.033 0.0069 0.057 0.028 0.0579 0.1866 0.0295 0.0035 0.0755 0.0574 0.0451 0.0254 0.098 0.17 0.059 0.11 0.049 rs35686634 . . other not_specified RCV000082270.8 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0552 0.1832 0.0320 0.0267 0.0027 0.0781 0.0587 0.0542 0.0270 0.0934 0.1862 0.0335 0.0298 0.0012 0.0762 0.0596 0.0676 het 629.04 43 17 17700792 . C T 629.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.081;DP=43;Dels=0.00;FS=3.873;HRun=0;HaplotypeScore=0.7340;MQ=59.57;MQ0=0;MQRankSum=-0.595;QD=14.63;ReadPosRankSum=0.668;VQSLOD=5.6148;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,21:43:99:659,0,579 17 17707105 17707105 T C exonic RAI1 synonymous SNV RAI1:NM_030665:exon4:c.T5601C:p.I1867I 0.24 0.12 0.38 0.075 0.53 0.17 0.4214 0.1802 0.3140 0.0729 0.5094 0.5684 0.4067 0.2062 0.44 0.19 0.56 0.27 0.51 rs3818717 COSM3766019 1(liver);1(thyroid) other not_specified RCV000082273.8 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4250 0.1786 0.3281 0.5289 0.0750 0.5237 0.5701 0.4743 0.2096 0.4155 0.2005 0.3261 0.5570 0.0727 0.4928 0.5584 0.4713 het 1821.01 145 17 17707105 . T C 1821.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.438;DP=145;Dels=0.00;FS=3.132;HRun=0;HaplotypeScore=10.2149;MQ=59.71;MQ0=0;MQRankSum=-0.272;QD=12.56;ReadPosRankSum=-0.137;VQSLOD=4.2006;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,77:145:99:1851,0,1721 17 17907768 17907768 C T exonic DRC3 nonsynonymous SNV DRC3:NM_001130092:exon10:c.C1091T:p.A364V,DRC3:NM_031294:exon10:c.C1091T:p.A364V,DRC3:NM_001130090:exon11:c.C1091T:p.A364V,DRC3:NM_001130091:exon11:c.C1091T:p.A364V 0.017 0.003 0.017 0.001 0.043 0.026 0.0426 0.0083 0.0154 0.0018 0.1005 0.0525 0.0419 0.0358 0.027 0.0077 0.036 . . rs11656629 . . . . . . . . . . . . . 0.3 0.148 T 0.0 0.026 B 0.0 0.040 B 0.043 0.019 N 1 0.090 N -1.1 0.010 N 1.02 0.407 T -0.87 0.238 N 0.01 0.002 -1.058 0.122 T 0.013 0.052 T . . . -0.711 0.044 0.068 0.761 0.110 0.005 0.024 N c -2.037 -2.065 0.942 0.275 0.554 0.246 0 -5.88 0.021 -1.424 0.025 -1.164 0.017 0.000 0.063 0.001 0.043 7.893 0.287 . ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000232344.2|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000108591.5|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11|ENSG00000171953.11 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.0332 0.0062 0.0126 0.0390 0.0011 0.0802 0.0392 0.0356 0.0289 0.0318 0.0062 0.0179 0.0298 0.0012 0.0851 0.0378 0.0418 het 309.68 20 17 17907768 . C T 309.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.951;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=2.140;QD=15.48;ReadPosRankSum=-1.030;VQSLOD=11.2225;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,13:20:99:340,0,183 17 17921995 17921995 C T exonic ATPAF2 synonymous SNV ATPAF2:NM_145691:exon8:c.G738A:p.Q246Q 0.016 0.003 0.016 . 0.043 0.025 0.0308 0.0063 0.0098 0 0.0809 0.0386 0.0320 0.0256 0.024 0.0075 0.032 . 0.0082 rs33997182 . . Benign|Likely benign not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency\x2c_Nuclear_Type RCV000123785.1|RCV000346619.1 MedGen|MedGen CN169374|CN239153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0311 0.0059 0.0117 0.0387 0.0001 0.0787 0.0364 0.0330 0.0260 0.0296 0.0052 0.0167 0.0298 0 0.0847 0.0344 0.0387 het 2128.81 161 17 17921995 . C T 2128.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.196;DP=161;Dels=0.00;FS=2.796;HRun=2;HaplotypeScore=6.1891;MQ=59.16;MQ0=0;MQRankSum=-0.043;QD=13.22;ReadPosRankSum=0.138;VQSLOD=4.7985;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,80:161:99:2159,0,2186 17 17948475 17948475 G A exonic GID4 synonymous SNV GID4:NM_024052:exon2:c.G453A:p.G151G 0.37 0.43 0.46 0.095 0.62 0.22 0.5233 0.4562 0.3731 0.0914 0.5961 0.6690 0.5099 0.2801 0.6 0.46 0.67 0.42 0.66 rs2955355 COSM4129639 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5211 0.4547 0.3902 0.5873 0.0910 0.6102 0.6747 0.5796 0.2851 0.5574 0.4664 0.4199 0.5728 0.0933 0.5813 0.6598 0.5957 hom 2398.14 83 17 17948475 . G A 2398.14 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=28.89;VQSLOD=8.2214;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2431,187,0 17 17997209 17997209 G A exonic DRG2 synonymous SNV DRG2:NM_001330144:exon2:c.G147A:p.S49S,DRG2:NM_001388:exon2:c.G147A:p.S49S 0.25 0.15 0.38 0.065 0.54 0.19 0.4348 0.1991 0.3308 0.0690 0.4732 0.5815 0.4240 0.2402 0.46 0.21 0.59 0.29 0.6 rs2230316 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4369 0.1968 0.3452 0.5081 0.0675 0.4882 0.5884 0.4865 0.2446 0.4196 0.2067 0.3484 0.5298 0.0600 0.4566 0.5714 0.4836 het 1785.02 120 17 17997209 . G A 1785.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.873;DP=120;Dels=0.00;FS=3.502;HRun=0;HaplotypeScore=0.9987;MQ=59.62;MQ0=0;MQRankSum=-0.883;QD=14.88;ReadPosRankSum=1.022;VQSLOD=5.9039;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,65:120:99:1815,0,1470 17 18046898 18046898 T C exonic MYO15A nonsynonymous SNV MYO15A:NM_016239:exon25:c.T5929C:p.C1977R 0.72 0.89 0.79 0.62 0.74 0.52 0.7395 0.8741 0.8166 0.6729 0.7943 0.7853 0.7246 0.5875 0.8 0.87 0.77 0.72 0.27 rs854777 COSM5486820 1(large_intestine) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038976.4|RCV000311460.1 MedGen|MedGen CN169374|CN239439 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.076 0.367 P -1.5 0.005 N -2.16 0.866 D 2.95 0.001 N 0.012 0.003 -0.959 0.394 T 0.000 0.000 T . . . -0.232 0.073 0.938 0.448 0.034 0.010 0.038 N c -1.731 -1.575 1.000 0.489 0.495 0.175 0 1.17 0.199 -0.033 0.121 -0.935 0.025 0.135 0.232 0.038 0.155 10.469 0.436 . ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000213077.5|ENSG00000273018.1|ENSG00000273018.1|ENSG00000177302.10|ENSG00000176974.13|ENSG00000176974.13|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000177302.10|ENSG00000176974.13|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000273018.1|ENSG00000213077.5|ENSG00000131899.6|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000213077.5|ENSG00000273018.1|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000273018.1|ENSG00000213077.5|ENSG00000177302.10|ENSG00000176974.13|ENSG00000091536.12|ENSG00000273018.1|ENSG00000273018.1|ENSG00000213077.5|ENSG00000177302.10|ENSG00000091536.12|ENSG00000214860.4|ENSG00000171916.12|ENSG00000176974.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.7313 0.8775 0.7787 0.8177 0.6251 0.7574 0.7475 0.7587 0.5798 0.7883 0.8750 0.7847 0.8212 0.6362 0.7579 0.7624 0.7648 het 156.07 10 17 18046898 . T C 156.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DP=10;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.9958;MQ=60.00;MQ0=0;MQRankSum=0.365;QD=15.61;ReadPosRankSum=-0.633;VQSLOD=4.6933;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,6:10:99:186,0,103 17 18052867 18052867 T C exonic MYO15A synonymous SNV MYO15A:NM_016239:exon34:c.T7185C:p.F2395F 0.99 1. 0.93 1. 1. 1. 0.9895 0.9994 0.8940 0.9998 1 0.9996 0.9944 0.9998 1. 1. 1. 0.96 1. rs2955379 COSM4129645 1(thyroid) Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038982.3|RCV000278858.1 MedGen|MedGen CN169374|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9864 0.9995 0.9037 1 0.9998 1 0.9997 0.9881 0.9998 0.9974 0.9998 0.9141 1 1 1 0.9997 1 hom 4261.28 150 17 18052867 . T C 4261.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.709;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3868;MQ=58.86;MQ0=0;MQRankSum=-1.662;QD=28.41;ReadPosRankSum=0.872;VQSLOD=6.0461;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,149:150:99:4260,349,0 17 18064730 18064730 C T exonic MYO15A synonymous SNV MYO15A:NM_016239:exon56:c.C9486T:p.D3162D 0.16 0.22 0.18 0.015 0.2 0.16 0.1767 0.2115 0.1003 0.0073 0.1500 0.2086 0.2138 0.1780 0.2 0.21 0.2 0.26 0.13 rs8077577 COSM4438943 1(oesophagus) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038998.4|RCV000274944.1 MedGen|MedGen CN169374|CN239439 Obesity-related traits . .03 23251661 rs8077577 4E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1696 0.2107 0.1027 0.2369 0.0068 0.1440 0.2047 0.1865 0.1799 0.1786 0.2160 0.1468 0.2053 0.0092 0.1494 0.1839 0.1684 het 2245.33 215 17 18064730 . C T 2245.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.000;DP=215;Dels=0.00;FS=1.069;HRun=0;HaplotypeScore=2.6000;MQ=59.10;MQ0=0;MQRankSum=-0.108;QD=10.44;ReadPosRankSum=-0.360;VQSLOD=6.6159;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:123,92:215:99:2275,0,3007 17 18077175 18077175 T C exonic MYO15A synonymous SNV MYO15A:NM_016239:exon64:c.T10431C:p.Y3477Y 0.72 0.89 0.79 0.63 0.74 0.52 0.7312 0.8660 0.7897 0.6431 0.7540 0.7498 0.7293 0.5750 0.79 0.86 0.76 0.72 0.76 rs854800 COSM3766020 1(liver) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038967.3|RCV000300670.1 MedGen|MedGen CN169374|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7334 0.8709 0.7840 0.8097 0.6401 0.7481 0.7450 0.7619 0.5811 0.7869 0.8705 0.7840 0.8146 0.6527 0.7520 0.7620 0.7637 het 1063.76 72 17 18077175 . T C 1063.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.799;DP=72;Dels=0.00;FS=3.714;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;MQRankSum=0.563;QD=14.77;ReadPosRankSum=-0.482;VQSLOD=6.4612;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,43:72:99:1094,0,789 17 18088094 18088094 C T exonic ALKBH5 synonymous SNV ALKBH5:NM_017758:exon1:c.C537T:p.H179H 0.18 0.3 0.19 0.012 0.21 0.15 0.1855 0.2809 0.1084 0.0056 0.1517 0.2130 0.2218 0.1794 0.23 0.27 0.21 0.26 0.13 rs11078411 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1771 0.2816 0.1116 0.2460 0.0045 0.1440 0.2079 0.1978 0.1816 0.1984 0.2818 0.1523 0.2252 0.0049 0.1493 0.1860 0.1755 het 734.24 51 17 18088094 . C T 734.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.235;DP=51;Dels=0.00;FS=3.899;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.166;QD=14.40;ReadPosRankSum=0.401;VQSLOD=6.3976;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,28:51:99:764,0,647 17 18137141 18137141 A G exonic LLGL1 nonsynonymous SNV LLGL1:NM_004140:exon5:c.A442G:p.S148G 0.78 0.85 0.75 0.68 0.76 0.85 0.7588 0.8408 0.7456 0.6920 0.7320 0.7463 0.7263 0.8145 0.78 0.84 0.75 0.76 0.79 rs2290505 COSM1563388 1(urinary_tract);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.363 N 1 0.090 P -1.465 0.005 N 3.49 0.051 T 1.07 0.013 N 0.012 0.036 -1.076 0.081 T 0.000 0.000 T . . . -1.483 0.017 0.003 0.141 0.003 0.003 0.015 N c -1.270 -1.203 0.992 0.326 0.707 0.730 0 2.63 0.303 -0.012 0.125 -0.399 0.062 0.003 0.159 0.002 0.062 7.052 0.241 WD40/YVTN repeat-like-containing domain ENSG00000273018.1|ENSG00000213077.5|ENSG00000131899.6|ENSG00000273018.1|ENSG00000233327.6|ENSG00000273018.1|ENSG00000213077.5|ENSG00000273018.1|ENSG00000091536.12|ENSG00000131899.6|ENSG00000091536.12|ENSG00000273018.1|ENSG00000213077.5|ENSG00000091536.12|ENSG00000273018.1|ENSG00000213077.5|ENSG00000091536.12|ENSG00000213077.5|ENSG00000273018.1|ENSG00000273018.1|ENSG00000273018.1|ENSG00000091536.12|ENSG00000273018.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.7600 0.8455 0.7515 0.7358 0.6880 0.7366 0.7545 0.7531 0.8126 0.7784 0.8397 0.7356 0.7616 0.6795 0.7140 0.7722 0.7628 het 2525.12 197 17 18137141 . A G 2525.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.296;DP=197;Dels=0.00;FS=3.333;HRun=1;HaplotypeScore=7.9136;MQ=59.79;MQ0=0;MQRankSum=-1.091;QD=12.82;ReadPosRankSum=-0.255;VQSLOD=3.8848;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,103:197:99:2555,0,2755 17 18148485 18148485 G A exonic FLII synonymous SNV FLII:NM_001256265:exon29:c.C3612T:p.H1204H,FLII:NM_001256264:exon30:c.C3744T:p.H1248H,FLII:NM_002018:exon30:c.C3777T:p.H1259H 0.26 0.29 0.26 0.32 0.24 0.15 0.2545 0.2821 0.2633 0.3086 0.2517 0.2585 0.2838 0.1860 0.26 0.28 0.25 0.26 0.18 rs7498 COSM3755315 4(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.995 0.810 P . . . 2.38 0.158 T . . . . . . . . . . . . . . 1.414 0.233 12.86 0.928 0.218 0.672 0.331 D n 1.603 3.885 0.993 0.328 0.672 0.522 0 -7.05 0.014 0.068 0.143 -0.504 0.051 0.978 0.348 0.992 0.562 23.518 1.000 . ENSG00000273018.1|ENSG00000213077.5|ENSG00000273018.1|ENSG00000131899.6|ENSG00000273018.1|ENSG00000273018.1|ENSG00000213077.5|ENSG00000273018.1|ENSG00000177302.10|ENSG00000273018.1|ENSG00000273018.1|ENSG00000273018.1|ENSG00000213077.5|ENSG00000273018.1|ENSG00000091536.12|ENSG00000213077.5|ENSG00000273018.1|ENSG00000273018.1|ENSG00000176974.13|ENSG00000177731.11|ENSG00000273018.1|ENSG00000091536.12|ENSG00000273018.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.2495 0.2787 0.2584 0.2863 0.3105 0.2449 0.2480 0.2555 0.1874 0.2532 0.2805 0.2745 0.2748 0.3193 0.2623 0.2275 0.2378 het 2460.79 191 17 18148485 . G A 2460.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.227;DP=191;DS;Dels=0.00;FS=1.193;HRun=0;HaplotypeScore=5.5451;MQ=59.29;MQ0=0;MQRankSum=-0.167;QD=12.88;ReadPosRankSum=2.498;VQSLOD=4.4444;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,86:191:99:2491,0,2812 17 18167505 18167505 T C exonic MIEF2 synonymous SNV MIEF2:NM_139162:exon4:c.T792C:p.A264A,MIEF2:NM_148886:exon4:c.T825C:p.A275A 0.68 0.9 0.7 0.54 0.66 0.51 0.6812 0.8582 0.7237 0.5572 0.7183 0.6858 0.6855 0.5746 0.73 0.84 0.67 0.67 0.34 rs2605143 COSM3755317 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6632 0.8565 0.7039 0.7074 0.5289 0.6961 0.6647 0.6889 0.5622 0.7253 0.8509 0.6921 0.6821 0.5512 0.7045 0.6806 0.6929 het 660.96 32 17 18167505 . T C 660.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.944;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=0.635;QD=20.66;ReadPosRankSum=1.627;VQSLOD=6.5914;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,21:32:99:691,0,301 17 18219835 18219835 T C exonic SMCR8 synonymous SNV SMCR8:NM_144775:exon1:c.T732C:p.I244I 0.21 0.15 0.24 0.32 0.24 0.15 0.2437 0.1531 0.2543 0.3070 0.2711 0.2589 0.2761 0.1864 0.22 0.16 0.26 0.22 0.19 rs3829956 COSM3755319 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2424 0.1478 0.2496 0.2679 0.3086 0.2658 0.2506 0.2478 0.1885 0.2220 0.1535 0.2656 0.2384 0.3164 0.2871 0.2324 0.2413 het 1513.97 108 17 18219835 . T C 1513.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.682;DP=108;Dels=0.00;FS=3.606;HRun=0;HaplotypeScore=1.7336;MQ=59.60;MQ0=0;MQRankSum=0.721;QD=14.02;ReadPosRankSum=0.609;VQSLOD=6.5401;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,57:108:99:1544,0,1355 17 18220770 18220770 G A exonic SMCR8 nonsynonymous SNV SMCR8:NM_144775:exon1:c.G1667A:p.R556H 0.68 0.9 0.69 0.54 0.66 0.51 0.6694 0.8580 0.7144 0.5314 0.7043 0.6740 0.6729 0.5589 0.73 0.85 0.67 0.72 0.72 rs1563632 COSM3766023 3(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.038 0.243 N 1.000 0.197 P -0.06 0.049 N 1.6 0.286 T 1.12 0.012 N 0.093 0.092 -0.963 0.387 T 0.000 0.000 T . . . 0.234 0.116 5.035 0.497 0.042 0.078 0.137 N c -1.118 -0.943 1.000 0.448 0.722 0.854 0 3.78 0.425 -0.215 0.092 0.244 0.267 0.000 0.063 0.979 0.486 5.252 0.147 . ENSG00000273018.1|ENSG00000213077.5|ENSG00000177302.10|ENSG00000176974.13|ENSG00000213077.5|ENSG00000273018.1|ENSG00000176974.13|ENSG00000273018.1|ENSG00000213077.5|ENSG00000177302.10|ENSG00000176974.13|ENSG00000176974.13|ENSG00000273018.1|ENSG00000220161.4|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000177302.10|ENSG00000177302.10|ENSG00000177302.10|ENSG00000213077.5|ENSG00000273018.1|ENSG00000176974.13|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000213077.5|ENSG00000177302.10|ENSG00000213077.5|ENSG00000273018.1|ENSG00000273018.1|ENSG00000214856.7|ENSG00000213077.5|ENSG00000177302.10|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000177302.10|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000273018.1|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000273018.1|ENSG00000213077.5|ENSG00000176974.13|ENSG00000273018.1|ENSG00000213077.5|ENSG00000177302.10|ENSG00000176974.13|ENSG00000177302.10|ENSG00000213077.5|ENSG00000273018.1|ENSG00000273018.1|ENSG00000213077.5|ENSG00000213077.5|ENSG00000273018.1|ENSG00000273018.1|ENSG00000213077.5|ENSG00000177302.10|ENSG00000273018.1|ENSG00000213077.5|ENSG00000177302.10|ENSG00000176974.13|ENSG00000091536.12|ENSG00000186831.7|ENSG00000273018.1|ENSG00000214860.4|ENSG00000171916.12|ENSG00000176974.13|ENSG00000176994.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.6660 0.8593 0.7040 0.7126 0.5293 0.6986 0.6659 0.6932 0.5620 0.7260 0.8522 0.6921 0.6954 0.5532 0.7057 0.6807 0.6912 het 4066.11 249 17 18220770 . G A 4066.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.322;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9965;MQ=59.65;MQ0=0;MQRankSum=-2.230;QD=16.33;ReadPosRankSum=-0.480;VQSLOD=4.9863;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:119,130:249:99:3427,0,3134 17 18221010 18221010 A G exonic SMCR8 nonsynonymous SNV SMCR8:NM_144775:exon1:c.A1907G:p.N636S 0.21 0.15 0.24 0.32 0.24 0.15 0.2438 0.1527 0.2535 0.3077 0.2716 0.2591 0.2777 0.1861 0.22 0.15 0.26 0.2 0.19 rs12449313 COSM4000042 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid) . . . . . . . . . . . 0.648 0.049 T 0.0 0.026 B 0.0 0.013 B 0.486 0.050 N 1 0.090 P -0.55 0.024 N 1.15 0.382 T 0.19 0.050 N 0.022 0.005 -0.997 0.307 T 0.000 0.000 T . . . -3.709 0.000 0.001 0.330 0.019 0.053 0.110 N c -1.844 -1.885 1.000 0.747 0.722 0.854 0 -7.65 0.011 -1.262 0.029 -0.123 0.113 0.000 0.063 0.137 0.201 20.899 0.999 . ENSG00000273018.1|ENSG00000213077.5|ENSG00000213077.5|ENSG00000131899.6|ENSG00000273018.1|ENSG00000233327.6|ENSG00000273018.1|ENSG00000213077.5|ENSG00000273018.1|ENSG00000213077.5|ENSG00000091536.12|ENSG00000131899.6|ENSG00000273018.1|ENSG00000273018.1|ENSG00000213077.5|ENSG00000091536.12|ENSG00000273018.1|ENSG00000213077.5|ENSG00000213077.5|ENSG00000273018.1|ENSG00000273018.1|ENSG00000171916.12|ENSG00000273018.1|ENSG00000213077.5|ENSG00000091536.12|ENSG00000273018.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.2424 0.1478 0.2495 0.2679 0.3084 0.2660 0.2507 0.2471 0.1884 0.2217 0.1530 0.2644 0.2384 0.3188 0.2865 0.2324 0.2387 het 1483.33 107 17 18221010 . A G 1483.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.619;DP=107;Dels=0.00;FS=8.009;HRun=0;HaplotypeScore=5.5051;MQ=59.57;MQ0=0;MQRankSum=-0.176;QD=13.86;ReadPosRankSum=-0.798;VQSLOD=4.6440;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,55:107:99:1513,0,1315 17 18565423 18565423 G A exonic ZNF286B nonsynonymous SNV ZNF286B:NM_001145045:exon5:c.C1396T:p.P466S 0.27 0.2 0.45 0.19 0.41 0.2 0.3395 0.2317 0.4185 0.1811 0.3322 0.3872 0.3960 0.2427 0.35 0.24 0.39 0.29 . rs9912852 COSM3755321;COSM3755320 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . 0.454 0.343 P 0.228 0.364 B . . . 0.017 0.399 P 1.86 0.494 L 1.61 0.284 T . . . 0.159 0.341 . . . . . . . . . 3.727 0.505 23.3 0.998 0.910 0.000 0.000 N n 1.058 0.416 0.000 0.046 0.660 0.495 0 2.56 0.297 7.751 0.839 0.758 0.310 1.000 0.715 0.953 0.430 11.287 0.483 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000249459.4|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000108448.16|ENSG00000249459.4|ENSG00000171928.9|ENSG00000141127.10|ENSG00000108448.16|ENSG00000264885.1|ENSG00000240445.3|ENSG00000108448.16|ENSG00000171928.9|ENSG00000141127.10|ENSG00000108448.16|ENSG00000264885.1|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000171928.9|ENSG00000249459.4|ENSG00000171928.9|ENSG00000141127.10|ENSG00000108448.16|ENSG00000171928.9|ENSG00000240445.3|ENSG00000141127.10|ENSG00000171928.9|ENSG00000108448.16|ENSG00000171928.9|ENSG00000141127.10|ENSG00000141127.10|ENSG00000240445.3|ENSG00000108448.16 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.3448 0.2301 0.4175 0.4059 0.1785 0.3423 0.3850 0.3855 0.2458 0.3249 0.2329 0.4147 0.4218 0.1623 0.3351 0.3852 0.3570 het 498.27 30 17 18565423 . G A 498.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.545;DP=30;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=0.0000;MQ=50.14;MQ0=0;MQRankSum=-0.021;QD=16.61;ReadPosRankSum=-1.418;VQSLOD=2.5043;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:12,18:30:99:528,0,303 17 18702220 18702220 T C exonic TVP23B synonymous SNV TVP23B:NM_001316923:exon4:c.T168C:p.A56A,TVP23B:NM_001316919:exon5:c.T234C:p.A78A,TVP23B:NM_001316920:exon5:c.T234C:p.A78A,TVP23B:NM_001316921:exon5:c.T234C:p.A78A,TVP23B:NM_001316922:exon5:c.T168C:p.A56A,TVP23B:NM_001316924:exon5:c.T426C:p.A142A,TVP23B:NM_016078:exon5:c.T426C:p.A142A 0.68 0.62 0.74 0.83 0.7 0.53 0.6925 0.6326 0.7633 0.8210 0.6978 0.7073 0.6905 0.5514 0.67 0.63 0.7 0.69 0.76 rs8080471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6968 0.6290 0.7642 0.6979 0.8288 0.7034 0.7034 0.7009 0.5530 0.6948 0.6386 0.7548 0.73 0.8205 0.6991 0.7088 0.6938 hom 5871.73 213 17 18702220 . T C 5871.73 Mask AC=2;AF=1.00;AN=2;DP=213;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6805;MQ=48.57;MQ0=10;QD=27.57;VQSLOD=3.3261;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,213:213:99:5871,454,0 17 18775900 18775900 A G exonic PRPSAP2 synonymous SNV PRPSAP2:NM_001243940:exon4:c.A177G:p.T59T,PRPSAP2:NM_002767:exon5:c.A177G:p.T59T 0.46 0.56 0.51 0.33 0.56 0.33 0.4998 0.5492 0.4543 0.3318 0.4487 0.5585 0.5022 0.3719 0.56 0.56 0.56 0.51 0.6 rs4393623 COSM436169 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . -0.621 0.049 0.111 0.747 0.104 0.087 0.144 N n 0.471 -0.089 0.000 0.038 0.707 0.730 0 -2.29 0.064 -0.305 0.082 -2.063 0.005 0.077 0.221 0.943 0.417 8.31 0.310 . ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000141127.10|ENSG00000141127.10|ENSG00000141127.10|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000240445.3|ENSG00000141127.10|ENSG00000171928.9|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000171931.8|ENSG00000171928.9|ENSG00000141127.10|ENSG00000171928.9|ENSG00000141127.10|ENSG00000141127.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hippocampus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus 0.4957 0.5511 0.4619 0.5843 0.3322 0.4555 0.5551 0.5162 0.3744 0.5240 0.5479 0.4893 0.6067 0.3346 0.4409 0.5519 0.4969 het 1904.42 169 17 18775900 . A G 1904.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.999;DP=169;Dels=0.00;FS=0.685;HRun=0;HaplotypeScore=4.8487;MQ=58.75;MQ0=0;MQRankSum=1.268;QD=11.27;ReadPosRankSum=1.913;VQSLOD=5.1588;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,79:169:99:1934,0,2423 17 18874685 18874685 - GGT exonic FAM83G nonframeshift insertion FAM83G:NM_001039999:exon6:c.2458_2459insACC:p.D819_R820insH 0.65 0.67 0.68 0.63 0.59 0.69 0.6077 0.6664 0.6227 0.6320 0.5902 0.5825 0.5850 0.6595 0.6 0.65 0.57 . . rs72535841 COSM1381396 18(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6055 0.6701 0.6206 0.6164 0.6246 0.5952 0.5764 0.5936 0.6558 0.6034 0.6679 0.6265 0.6081 0.5979 0.5986 0.5649 0.6240 het 2514.14 97 17 18874685 . C CGGT 2514.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.743;DP=97;FS=6.233;HRun=0;HaplotypeScore=421.1910;MQ=55.45;MQ0=0;MQRankSum=-1.203;QD=25.92;ReadPosRankSum=0.513;set=variant2 GT:AD:DP:GQ:PL 0/1:57,39:97:99:2553,0,1956 17 18874720 18874720 C G exonic FAM83G synonymous SNV FAM83G:NM_001039999:exon6:c.G2424C:p.S808S 0.67 0.76 0.68 0.63 0.59 0.69 0.6139 0.7327 0.6256 0.6356 0.5912 0.5835 0.5833 0.6574 0.63 0.73 0.57 0.73 0.53 rs916823 COSM3766031 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6105 0.7360 0.6229 0.6180 0.6247 0.5962 0.5771 0.5960 0.6561 0.6232 0.7291 0.6319 0.6167 0.6014 0.5989 0.5687 0.6309 het 1293.70 125 17 18874720 . C G 1293.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.549;DP=125;Dels=0.00;FS=1.562;HRun=1;HaplotypeScore=2.5859;MQ=57.16;MQ0=0;MQRankSum=-1.281;QD=10.35;ReadPosRankSum=-0.687;VQSLOD=3.9080;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,53:125:99:1324,0,2027 17 19232078 19232078 T C exonic EPN2 nonsynonymous SNV EPN2:NM_001102664:exon5:c.T347C:p.V116A,EPN2:NM_148921:exon7:c.T1031C:p.V344A,EPN2:NM_014964:exon8:c.T1202C:p.V401A 0.9 1. 0.87 0.85 0.99 0.75 0.9276 0.9948 0.7349 0.8419 0.9858 0.9878 0.9436 0.7989 0.99 0.99 0.99 0.97 0.99 rs6587220 . . . . . . . . . . . . . 0.337 0.173 T 0.0 0.026 B 0.0 0.013 B 0.417 0.129 N 1 0.090 P -0.805 0.016 N 2.55 0.301 T 1.12 0.021 N 0.191 0.234 -0.983 0.342 T 0.000 0.000 T . . . -0.690 0.045 0.076 0.466 0.037 0.007 0.031 N c -1.081 -0.959 1.000 0.437 0.707 0.730 0 3.11 0.347 2.256 0.426 0.069 0.176 0.495 0.267 0.017 0.128 11.127 0.474 ENTH domain|ENTH/VHS . . 0.9223 0.9953 0.7562 0.9860 0.8387 0.9841 0.9888 0.9501 0.8004 0.9724 0.9961 0.7811 0.9868 0.8288 0.9820 0.9834 0.9540 hom 4295.78 130 17 19232078 . T C 4295.78 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9840;MQ=59.71;MQ0=0;QD=33.04;VQSLOD=9.4111;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4295,331,0 17 19247075 19247075 G A exonic B9D1 nonsynonymous SNV B9D1:NM_001243473:exon6:c.C559T:p.H187Y,B9D1:NM_001321215:exon6:c.C500T:p.P167L 0.31 0.073 0.52 0.004 0.81 0.29 0.5994 0.1744 0.4003 0.0026 0.7834 0.8107 0.6663 0.3763 0.6 0.2 0.81 0.27 . rs4924987 COSN8992409;COSN6654577 1(thyroid);1(liver) Benign not_specified RCV000248862.2 MedGen CN169374 . . . . . . . . . 0.012 0.151 B 0.025 0.193 B . . . 1 0.090 P . . . . . . . . . 0.102 0.106 . . . . . . . . . 0.082 0.101 3.415 0.387 0.026 0.082 0.140 N n 0.011 0.789 1.000 0.473 0.615 0.372 0 -0.599 0.110 -0.254 0.087 -0.007 0.133 0.000 0.063 0.000 0.016 2.671 0.047 . ENSG00000265263.1|ENSG00000262319.1|ENSG00000072134.11|ENSG00000228157.2|ENSG00000072134.11|ENSG00000265263.1|ENSG00000262319.1|ENSG00000128482.11|ENSG00000262319.1|ENSG00000262319.1|ENSG00000108641.10|ENSG00000072134.11|ENSG00000072134.11|ENSG00000265263.1|ENSG00000262319.1|ENSG00000235979.4|ENSG00000265263.1|ENSG00000108641.10|ENSG00000128482.11|ENSG00000072134.11|ENSG00000072134.11|ENSG00000265263.1|ENSG00000262319.1|ENSG00000262319.1|ENSG00000228157.2|ENSG00000235979.4|ENSG00000262319.1|ENSG00000128482.11|ENSG00000265263.1|ENSG00000262319.1|ENSG00000072134.11|ENSG00000142494.9|ENSG00000262769.1|ENSG00000265263.1|ENSG00000262319.1|ENSG00000072134.11|ENSG00000128482.11|ENSG00000262319.1|ENSG00000262319.1|ENSG00000262202.3|ENSG00000227078.1|ENSG00000128482.11|ENSG00000262319.1|ENSG00000228157.2|ENSG00000262319.1|ENSG00000128482.11|ENSG00000228157.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.6023 0.1651 0.4240 0.8334 0.0024 0.7857 0.8096 0.6789 0.3783 0.5779 0.1809 0.4499 0.8167 0.0037 0.7831 0.8175 0.7010 hom 1876.93 61 17 19247075 . G A 1876.93 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8814;MQ=57.31;MQ0=0;QD=30.77;VQSLOD=6.3072;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1910,156,0 17 19474875 19474875 C T exonic SLC47A1 nonsynonymous SNV SLC47A1:NM_018242:exon15:c.C1394T:p.A465V 0.0022 . 0.0043 . 0.007 0.001 0.0064 0.0018 0.0050 0 0.0059 0.0097 0.0033 0.0007 0.0065 0.0039 0.0079 . . rs111653425 . . . . . . . . . . . . . 0.438 0.093 T 0.1 0.407 B 0.109 0.431 B 0.001 0.408 D 0.996 0.810 D 2.01 0.549 M 1.48 0.320 T -2.66 0.569 D 0.343 0.404 -1.124 0.021 T 0.049 0.207 T 0.004 0.102 T 4.684 0.628 24.6 0.996 0.723 0.796 0.392 D c 0.041 0.158 0.296 0.191 0.615 0.372 0 5.4 0.779 3.009 0.490 0.852 0.362 1.000 0.715 0.885 0.372 10.160 0.418 . . . 0.0064 0.0022 0.0056 0.0005 0 0.0057 0.0104 0.0058 0.0006 0.0055 0.0015 0.0060 0 0 0.0086 0.0078 0.0041 het 1039.34 84 17 19474875 . C T 1039.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.809;DP=84;Dels=0.00;FS=0.886;HRun=0;HaplotypeScore=2.6503;MQ=59.56;MQ0=0;MQRankSum=-1.979;QD=12.37;ReadPosRankSum=0.434;VQSLOD=4.7869;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,45:84:99:1069,0,976 17 19713740 19713740 C T exonic ULK2 nonsynonymous SNV ULK2:NM_001142610:exon14:c.G1108A:p.V370M,ULK2:NM_014683:exon14:c.G1108A:p.V370M 0.89 0.96 0.93 0.74 0.97 0.82 0.9325 0.9589 0.9236 0.7703 0.9698 0.9668 0.9482 0.8527 0.97 0.96 0.97 0.8 0.98 rs150122 . . . . . . . . . . . . . 0.437 0.093 T 0.0 0.026 B 0.0 0.013 B 0.002 0.383 N 1 0.090 P 1.15 0.294 L -0.71 0.729 T 0.19 0.050 N 0.052 0.045 -1.015 0.252 T 0.000 0.000 T . . . -0.098 0.085 1.743 0.137 0.003 0.013 0.046 N c -1.869 -1.797 0.000 0.029 0.651 0.465 0 -0.961 0.098 -0.831 0.045 -0.852 0.029 0.000 0.063 0.081 0.181 4.088 0.094 . . . 0.9331 0.9577 0.9275 0.9843 0.7613 0.9698 0.9670 0.9479 0.8520 0.9525 0.9616 0.9451 0.9636 0.7330 0.9733 0.9664 0.95 hom 7142.82 249 17 19713740 . C T 7142.82 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1309;MQ=59.24;MQ0=0;QD=28.69;VQSLOD=7.8540;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7142,542,0 17 19729495 19729495 T C exonic ULK2 synonymous SNV ULK2:NM_001142610:exon11:c.A792G:p.A264A,ULK2:NM_014683:exon11:c.A792G:p.A264A 0.79 0.75 0.89 0.59 0.96 0.82 0.9010 0.7787 0.8809 0.6169 0.9698 0.9658 0.9347 0.8494 0.91 0.8 0.97 0.098 0.97 rs157397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9081 0.7672 0.8766 0.9786 0.5913 0.9697 0.9654 0.9302 0.8465 0.8910 0.7832 0.9081 0.9658 0.5879 0.9723 0.9653 0.9305 hom 3127.96 117 17 19729495 . T C 3127.96 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=26.73;VQSLOD=7.7928;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3161,247,0 17 19812541 19812541 T C exonic AKAP10 nonsynonymous SNV AKAP10:NM_001330152:exon13:c.A1762G:p.I588V,AKAP10:NM_007202:exon14:c.A1936G:p.I646V 0.39 0.62 0.42 0.19 0.39 0.28 0.3737 0.5879 0.4229 0.1824 0.3464 0.3790 0.3377 0.2956 0.45 0.58 0.38 0.43 0.4 rs203462 . . other Cardiac_conduction_defect\x2c_susceptibility_to RCV000005735.2 . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.203 P -2.015 0.002 N 2.01 0.213 T 0.31 0.040 N 0.15 0.299 -0.969 0.375 T 0.000 0.000 T . . . 0.614 0.153 8.255 0.487 0.040 0.070 0.129 N c -0.652 -0.344 0.999 0.372 0.732 0.924 0 5.88 0.945 3.391 0.520 0.058 0.164 0.976 0.346 0.995 0.604 12.685 0.561 . ENSG00000270091.1|ENSG00000270091.1|ENSG00000270091.1|ENSG00000270091.1|ENSG00000214822.4|ENSG00000170298.11|ENSG00000270091.1|ENSG00000270091.1|ENSG00000170298.11|ENSG00000270091.1|ENSG00000154898.11|ENSG00000261033.1|ENSG00000189423.7|ENSG00000170298.11|ENSG00000108599.10 Adipose_Subcutaneous|Brain_Cerebellum|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Testis|Testis|Whole_Blood|Whole_Blood 0.3715 0.5912 0.4180 0.3648 0.1833 0.3452 0.3825 0.3804 0.2968 0.4165 0.5848 0.4093 0.3874 0.1795 0.3436 0.3666 0.3513 het 1415.10 118 17 19812541 . T C 1415.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.616;DP=118;Dels=0.00;FS=0.690;HRun=0;HaplotypeScore=1.5115;MQ=60.00;MQ0=0;MQRankSum=-1.865;QD=11.99;ReadPosRankSum=-0.256;VQSLOD=5.6356;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,58:118:99:1445,0,1413 17 19813277 19813277 G T exonic AKAP10 nonsynonymous SNV AKAP10:NM_001330152:exon12:c.C1675A:p.Q559K,AKAP10:NM_007202:exon13:c.C1849A:p.Q617K . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.628 0.052 T 0.924 0.493 P 0.9 0.621 P 0.000 0.843 D 0.918 0.366 D 1.935 0.520 L 1.63 0.280 T 0.6 0.028 N 0.491 0.588 -1.078 0.076 T 0.105 0.385 T 0.016 0.372 T 1.863 0.285 15.36 0.774 0.115 0.991 0.910 D c 0.300 0.417 0.999 0.389 0.707 0.730 0 5.48 0.806 6.229 0.720 1.019 0.643 1.000 0.715 1.000 0.888 16.515 0.841 . . . . . . . . . . . . . . . . . . . . het 920.16 84 17 19813277 . G T 920.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.969;DP=84;Dels=0.00;FS=0.827;HRun=2;HaplotypeScore=2.4370;MQ=57.71;MQ0=0;MQRankSum=0.255;QD=10.95;ReadPosRankSum=-0.139;VQSLOD=3.5126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,40:84:99:950,0,1127 17 19861458 19861458 C T exonic AKAP10 nonsynonymous SNV AKAP10:NM_001330152:exon4:c.G746A:p.R249H,AKAP10:NM_007202:exon4:c.G746A:p.R249H 0.39 0.61 0.41 0.19 0.39 0.28 0.3717 0.5728 0.4214 0.1836 0.3464 0.3782 0.3370 0.2947 0.44 0.57 0.38 0.42 0.4 rs2108978 . . . . . . . . . . . . . 1.0 0.020 T 0.0 0.026 B 0.0 0.013 B 0.004 0.338 N 1 0.090 P -2.19 0.001 N 2.17 0.190 T 1.04 0.013 N 0.028 0.062 -0.973 0.365 T 0.000 0.000 T . . . 0.707 0.161 8.872 0.528 0.047 0.037 0.088 N c -1.090 -0.844 1.0 0.983 0.707 0.730 0 2.36 0.281 0.200 0.169 -0.870 0.028 0.991 0.370 0.878 0.368 6.062 0.189 RGS domain ENSG00000270091.1|ENSG00000270091.1|ENSG00000270091.1|ENSG00000270091.1|ENSG00000214822.4|ENSG00000170298.11|ENSG00000270091.1|ENSG00000270091.1|ENSG00000170298.11|ENSG00000270091.1|ENSG00000154898.11|ENSG00000261033.1|ENSG00000189423.7|ENSG00000170298.11|ENSG00000108599.10 Adipose_Subcutaneous|Brain_Cerebellum|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Testis|Testis|Whole_Blood|Whole_Blood 0.3704 0.5756 0.4177 0.3590 0.1855 0.3448 0.3824 0.3795 0.2971 0.4122 0.5687 0.4031 0.3841 0.1803 0.3438 0.3669 0.3539 het 1751.73 163 17 19861458 . C T 1751.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.760;DP=163;Dels=0.00;FS=9.804;HRun=0;HaplotypeScore=6.1285;MQ=59.08;MQ0=0;MQRankSum=2.327;QD=10.75;ReadPosRankSum=0.975;VQSLOD=3.6741;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,69:163:99:1782,0,2362 17 20107773 20107773 T C exonic SPECC1 synonymous SNV SPECC1:NM_001033554:exon2:c.T168C:p.S56S,SPECC1:NM_001033555:exon2:c.T168C:p.S56S,SPECC1:NM_001243438:exon2:c.T168C:p.S56S,SPECC1:NM_001033553:exon4:c.T411C:p.S137S,SPECC1:NM_001243439:exon4:c.T411C:p.S137S,SPECC1:NM_152904:exon4:c.T411C:p.S137S 0.54 0.41 0.47 0.79 0.4 0.65 0.4782 0.4081 0.5022 0.8089 0.4897 0.4019 0.4868 0.6360 0.4 0.4 0.4 0.53 0.37 rs2703805 COSM5425349;COSM5425348 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4820 0.4056 0.4944 0.4716 0.8083 0.4918 0.3975 0.4528 0.6318 0.4545 0.4073 0.4964 0.4305 0.8220 0.5049 0.4264 0.4867 hom 7450.24 235 17 20107773 . T C 7450.24 Mask AC=2;AF=1.00;AN=2;DP=235;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2957;MQ=59.05;MQ0=0;QD=31.70;VQSLOD=6.2085;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,235:235:99:7449,587,0 17 20108239 20108239 A T exonic SPECC1 nonsynonymous SNV SPECC1:NM_001033554:exon2:c.A634T:p.M212L,SPECC1:NM_001033555:exon2:c.A634T:p.M212L,SPECC1:NM_001243438:exon2:c.A634T:p.M212L,SPECC1:NM_001033553:exon4:c.A877T:p.M293L,SPECC1:NM_001243439:exon4:c.A877T:p.M293L,SPECC1:NM_152904:exon4:c.A877T:p.M293L 0.82 0.97 0.67 0.99 0.57 0.8 0.6741 0.9218 0.6678 0.9898 0.6245 0.5768 0.6380 0.7727 0.69 0.91 0.58 0.8 0.58 rs2703806 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.738 0.098 N 1 0.090 P -2.28 0.001 N 0.16 0.608 T 0.37 0.039 N 0.028 0.009 -0.902 0.478 T 0.000 0.000 T . . . -3.117 0.001 0.001 0.553 0.052 0.008 0.031 N c -2.202 -2.191 1.000 0.747 0.706 0.609 0 -10.8 0.002 -2.241 0.013 -0.703 0.037 0.000 0.063 0.053 0.166 3.700 0.079 . ENSG00000230528.3|ENSG00000261033.1|ENSG00000230528.3|ENSG00000128487.12|ENSG00000230528.3|ENSG00000230528.3|ENSG00000230528.3|ENSG00000230528.3|ENSG00000261033.1|ENSG00000230528.3|ENSG00000230528.3|ENSG00000230528.3|ENSG00000261033.1|ENSG00000214822.4|ENSG00000170298.11|ENSG00000230528.3|ENSG00000170298.11|ENSG00000230528.3|ENSG00000154898.11|ENSG00000170298.11|ENSG00000261033.1|ENSG00000189423.7 Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Spleen|Stomach|Testis|Testis|Testis|Testis|Whole_Blood 0.6700 0.9251 0.6652 0.5692 0.9908 0.6233 0.5801 0.6224 0.7679 0.7198 0.9190 0.6722 0.5166 0.9914 0.6289 0.6068 0.6516 hom 6256.43 192 17 20108239 . A T 6256.43 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.61;MQ0=0;QD=32.59;VQSLOD=9.2946;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:6255,514,0 17 20109189 20109189 C T exonic SPECC1 synonymous SNV SPECC1:NM_001033554:exon2:c.C1584T:p.N528N,SPECC1:NM_001033555:exon2:c.C1584T:p.N528N,SPECC1:NM_001243438:exon2:c.C1584T:p.N528N,SPECC1:NM_001033553:exon4:c.C1827T:p.N609N,SPECC1:NM_001243439:exon4:c.C1827T:p.N609N,SPECC1:NM_152904:exon4:c.C1827T:p.N609N 0.52 0.35 0.47 0.79 0.4 0.65 0.4747 0.3683 0.4977 0.8070 0.4859 0.4018 0.4856 0.6365 0.38 0.35 0.39 0.51 0.44 rs2703807 COSM4965463;COSM5425350 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4780 0.3614 0.4906 0.4712 0.8071 0.4910 0.3962 0.4491 0.6303 0.4403 0.3638 0.4905 0.4305 0.8201 0.5006 0.4247 0.4786 hom 3985.87 131 17 20109189 . C T 3985.87 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4105;MQ=58.94;MQ0=0;QD=30.43;VQSLOD=9.3821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:131:99:3962,310,0 17 20163529 20163529 A G exonic SPECC1 synonymous SNV SPECC1:NM_001033555:exon10:c.A2619G:p.A873A,SPECC1:NM_001033553:exon12:c.A2862G:p.A954A,SPECC1:NM_001243439:exon12:c.A2862G:p.A954A 0.82 0.97 0.67 0.99 0.57 0.8 0.6741 0.9216 0.6681 0.9897 0.6248 0.5767 0.6377 0.7724 0.69 0.91 0.58 0.86 0.58 rs2703791 COSM5618706;COSM5618705 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6700 0.9246 0.6660 0.5702 0.9907 0.6233 0.5803 0.6218 0.7677 0.7198 0.9185 0.6718 0.5166 0.9914 0.6289 0.6070 0.6517 hom 6310.47 217 17 20163529 . A G 6310.47 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4685;MQ=59.79;MQ0=0;QD=29.08;VQSLOD=7.0375;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6309,511,0 17 20924523 20924523 G A exonic USP22 synonymous SNV USP22:NM_015276:exon3:c.C321T:p.Y107Y 0.63 0.47 0.7 0.43 0.78 0.82 0.7309 0.4959 0.6560 0.4305 0.7880 0.7846 0.7294 0.8392 0.7 0.52 0.79 0.67 0.67 rs2291037 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7321 0.4923 0.6647 0.7932 0.4264 0.7901 0.7851 0.7559 0.8376 0.6838 0.5007 0.6651 0.8013 0.4342 0.7986 0.7853 0.7408 het 657.26 63 17 20924523 . G A 657.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DP=63;Dels=0.00;FS=1.095;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.118;QD=10.43;ReadPosRankSum=-1.618;VQSLOD=5.8052;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,27:63:99:687,0,978 17 21202191 21202191 C A exonic MAP2K3 nonsynonymous SNV MAP2K3:NM_002756:exon3:c.C31A:p.P11T,MAP2K3:NM_145109:exon3:c.C118A:p.P40T,MAP2K3:NM_001316332:exon4:c.C31A:p.P11T 0.0002 0.0008 . . . . 0.5000 0.5 0.5 0.5 0.5 0.5000 0.5 0.5 . . . 0.5 0.49 rs33911218 COSM1741564;COSM1741563 1(urinary_tract);23(upper_aerodigestive_tract) . . . . . . . . . . . 0.039 0.481 D 0.734 0.408 P 0.326 0.402 B 0.000 0.491 D 1 0.810 D 2.955 0.853 M -0.67 0.732 T -3.23 0.831 D 0.204 0.506 -0.940 0.426 T 0.000 0.000 T . . . 4.810 0.646 24.8 0.938 0.231 0.993 0.935 D c 0.138 0.252 1.000 0.747 0.707 0.730 0 4.95 0.648 7.186 0.771 0.046 0.159 1.000 0.715 0.998 0.697 17.133 0.865 . . . 0.5000 0.5 0.5000 0.4999 0.5 0.5 0.5000 0.5 0.5000 0.4138 0.4937 0.4868 0.2075 0.4981 0.4997 0.3346 0.4603 het 1167.07 102 17 21202191 . C A 1167.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.120;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8448;MQ=56.05;MQ0=0;MQRankSum=0.679;QD=11.44;ReadPosRankSum=2.278;VQSLOD=2.1896;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,50:102:99:1197,0,1325 17 21203893 21203893 T C exonic MAP2K3 nonsynonymous SNV MAP2K3:NM_002756:exon4:c.T115C:p.S39P,MAP2K3:NM_145109:exon4:c.T202C:p.S68P,MAP2K3:NM_001316332:exon5:c.T115C:p.S39P . . . . . . 0.4995 0.4996 0.4987 0.4990 0.4998 0.4996 0.4988 0.4997 . . . 0.4 0.44 rs34105301 COSM4591731;COSM4591730 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.018 0.531 D 0.266 0.299 B 0.056 0.247 B 0.001 0.399 N 1 0.090 N 2.32 0.666 M 1.02 0.894 T -1.63 0.452 N 0.511 0.716 -1.097 0.044 T 0.000 0.000 T . . . 2.049 0.307 16.52 0.986 0.437 0.315 0.241 N c -0.017 0.038 1.000 0.747 0.707 0.730 0 5.47 0.803 1.495 0.350 1.060 0.767 0.014 0.188 0.975 0.474 11.148 0.475 Protein kinase domain|Protein kinase-like domain;Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain . . 0.4995 0.4987 0.4994 0.4996 0.4994 0.4999 0.4996 0.4998 0.4995 0.4126 0.4938 0.4869 0.2020 0.4981 0.4997 0.3328 0.4603 het 242.98 31 17 21203893 . T C 242.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.162;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6553;MQ=59.25;MQ0=0;MQRankSum=0.613;QD=7.84;ReadPosRankSum=-0.782;VQSLOD=5.4068;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,10:31:99:273,0,521 17 21203934 21203934 G A exonic MAP2K3 synonymous SNV MAP2K3:NM_002756:exon4:c.G156A:p.V52V,MAP2K3:NM_145109:exon4:c.G243A:p.V81V,MAP2K3:NM_001316332:exon5:c.G156A:p.V52V . . . . . . 0.4966 0.4973 0.4954 0.4949 0.4982 0.4966 0.4988 0.4975 . . . 0.35 0.37 rs62057672 COSM4129703;COSM4129702 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4990 0.4979 0.4992 0.4993 0.4989 0.4996 0.4990 0.4998 0.4990 0.4126 0.4938 0.4869 0.2020 0.4981 0.4997 0.3328 0.4603 het 208.58 32 17 21203934 . G A 208.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.094;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=0.305;QD=6.52;ReadPosRankSum=-0.711;VQSLOD=5.1388;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,10:32:99:239,0,641 17 21203949 21203949 C T exonic MAP2K3 synonymous SNV MAP2K3:NM_002756:exon4:c.C171T:p.S57S,MAP2K3:NM_145109:exon4:c.C258T:p.S86S,MAP2K3:NM_001316332:exon5:c.C171T:p.S57S . . . . . . 0.4970 0.4972 0.4965 0.4958 0.4979 0.4971 0.4974 0.4973 . . . 0.35 0.38 rs62057673 COSM4594769;COSM4594768;COSM5424941 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4989 0.4976 0.4993 0.4991 0.4986 0.4994 0.4988 0.4996 0.4990 0.4125 0.4937 0.4869 0.2020 0.4981 0.4997 0.3327 0.4602 het 221.93 28 17 21203949 . C T 221.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.942;DP=28;Dels=0.00;FS=1.691;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=0.791;QD=7.93;ReadPosRankSum=-1.414;VQSLOD=4.9856;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,10:28:99:252,0,503 17 21205460 21205460 C T exonic MAP2K3 synonymous SNV MAP2K3:NM_002756:exon6:c.C318T:p.D106D,MAP2K3:NM_145109:exon6:c.C405T:p.D135D,MAP2K3:NM_001316332:exon7:c.C318T:p.D106D . . . . . . 0.4993 0.4999 0.4928 0.4993 0.5 0.5 0.5 0.5 . . . 0.5 0.45 rs62057721 COSM4594811;COSM4594812;COSM5460396 1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4992 0.4999 0.4941 0.5 0.4994 0.5 0.5000 0.4994 0.5000 0.4123 0.4937 0.4811 0.2020 0.4981 0.4997 0.3329 0.4602 het 747.79 68 17 21205460 . C T 747.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.468;DP=68;Dels=0.00;FS=2.114;HRun=0;HaplotypeScore=1.7005;MQ=57.58;MQ0=0;MQRankSum=-0.480;QD=11.00;ReadPosRankSum=-0.259;VQSLOD=4.1132;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:778,0,923 17 21208413 21208413 C T exonic MAP2K3 synonymous SNV MAP2K3:NM_002756:exon9:c.C660T:p.S220S,MAP2K3:NM_145109:exon9:c.C747T:p.S249S,MAP2K3:NM_001316332:exon10:c.C660T:p.S220S . . . . . . 0.4998 0.5 0.4999 0.4995 0.5 0.4999 0.5 0.4994 . . . 0.49 0.47 rs1657695 COSM4594885;COSM4594884 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4999 0.5 0.4999 0.5 0.4998 0.5 0.4999 0.4998 0.4994 0.4121 0.4936 0.4868 0.2020 0.4981 0.4997 0.3321 0.4600 het 1481.55 242 17 21208413 . C T 1481.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.337;DP=242;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6018;MQ=58.84;MQ0=0;MQRankSum=0.030;QD=6.12;ReadPosRankSum=-0.291;VQSLOD=3.9414;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:179,63:242:99:1512,0,4965 17 21215537 21215537 C A exonic MAP2K3 synonymous SNV MAP2K3:NM_002756:exon10:c.C771A:p.S257S,MAP2K3:NM_145109:exon10:c.C858A:p.S286S,MAP2K3:NM_001316332:exon11:c.C771A:p.S257S 0.0022 0.0083 . . . . 0.4999 0.5 0.4999 0.4995 0.4997 0.5000 0.5 0.4998 . . . 0.5 0.42 rs55736474 COSM4129708;COSM4129707 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4999 0.5 0.4999 0.5 0.4998 0.5 0.4999 0.4994 0.4998 0.4126 0.4940 0.4869 0.2020 0.4981 0.4997 0.3327 0.4603 het 885.61 71 17 21215537 . C A 885.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.659;DP=71;Dels=0.00;FS=6.652;HRun=0;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;MQRankSum=-1.074;QD=12.47;ReadPosRankSum=-0.666;VQSLOD=3.9975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,36:71:99:916,0,984 17 21215552 21215552 C T exonic MAP2K3 synonymous SNV MAP2K3:NM_002756:exon10:c.C786T:p.A262A,MAP2K3:NM_145109:exon10:c.C873T:p.A291A,MAP2K3:NM_001316332:exon11:c.C786T:p.A262A . . . . . . 0.4999 0.4998 0.5 0.5 0.4997 0.5000 0.5 0.4998 . . . 0.5 0.43 rs56369732 COSM3773787;COSM3773788 2(kidney);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4999 0.4999 0.4999 0.5 0.4999 0.5000 0.5000 0.5 0.4999 0.4126 0.4937 0.4869 0.2020 0.4981 0.4997 0.3328 0.4603 het 1015.63 76 17 21215552 . C T 1015.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.792;DP=76;Dels=0.00;FS=1.935;HRun=0;HaplotypeScore=0.9916;MQ=58.72;MQ0=0;MQRankSum=-0.702;QD=13.36;ReadPosRankSum=0.109;VQSLOD=5.4003;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,36:76:99:1046,0,1053 17 21215557 21215557 G A exonic MAP2K3 nonsynonymous SNV MAP2K3:NM_002756:exon10:c.G791A:p.R264H,MAP2K3:NM_145109:exon10:c.G878A:p.R293H,MAP2K3:NM_001316332:exon11:c.G791A:p.R264H . . . . . . 0.4999 0.4998 0.5 0.5 0.4997 0.4999 0.5 0.4998 . . . 0.5 0.43 rs35206134 COSM3773789;COSM3773790 1(kidney);1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . 0.127 0.273 T 0.991 0.622 D 0.836 0.581 P 0.064 0.220 N 0.991 0.240 N 1.165 0.299 L -0.18 0.658 T -1.11 0.287 N 0.216 0.287 -0.952 0.406 T 0.000 0.000 T . . . 1.955 0.296 15.93 0.997 0.788 0.116 0.166 N c -0.551 -0.648 1.000 0.517 0.707 0.730 0 0.552 0.163 0.542 0.228 -0.667 0.040 0.005 0.169 0.472 0.266 5.924 0.182 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain;Protein kinase-like domain . . 0.4999 0.4999 0.4999 0.5 0.4998 0.5000 0.4999 0.5 0.4999 0.4125 0.4937 0.4869 0.2020 0.4981 0.4997 0.3326 0.4603 het 868.35 73 17 21215557 . G A 868.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.686;DP=73;Dels=0.00;FS=6.387;HRun=0;HaplotypeScore=0.9916;MQ=58.31;MQ0=0;MQRankSum=-0.127;QD=11.90;ReadPosRankSum=0.160;VQSLOD=4.4030;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,34:73:99:898,0,1027 17 21216846 21216846 G C exonic MAP2K3 synonymous SNV MAP2K3:NM_002756:exon11:c.G870C:p.L290L,MAP2K3:NM_145109:exon11:c.G957C:p.L319L,MAP2K3:NM_001316332:exon12:c.G870C:p.L290L . . . . . . 0.4999 0.4998 0.4997 0.4998 0.5 0.4999 0.5 0.4998 . . . 0.5 0.44 rs1657688 COSM5712791;COSM291821;COSM4129709 2(thyroid);1(upper_aerodigestive_tract);1(large_intestine);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4999 0.4999 0.5000 0.5 0.4999 0.4996 0.4999 0.5 0.4999 0.4144 0.4938 0.4869 0.2033 0.4981 0.4997 0.3356 0.4651 het 547.32 71 17 21216846 . G C 547.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.723;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7791;MQ=57.35;MQ0=0;MQRankSum=-1.214;QD=7.71;ReadPosRankSum=0.740;VQSLOD=2.5952;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,27:71:99:577,0,1227 17 21318698 21318698 C T exonic KCNJ12;KCNJ18 nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.C44T:p.S15L,KCNJ12:NM_021012:exon3:c.C44T:p.S15L . . . . . . 0.4992 0.4996 0.4989 0.4994 0.4995 0.4991 0.4978 0.4994 . . . 0.16 0.43 rs1657738 COSM436188 1(breast);1(haematopoietic_and_lymphoid_tissue);2(thyroid);23(upper_aerodigestive_tract);2(large_intestine);6(central_nervous_system) . . . . . . . . . . . 0.045 0.408 D 0.88 0.464 P 0.179 0.341 B 0.000 0.629 D 1.000 0.530 D 1.81 0.478 L 1.3 0.356 T -1.05 0.275 N 0.334 0.395 -0.798 0.553 T 0.000 0.000 T . . . 3.939 0.530 23.5 0.997 0.818 0.974 0.746 D c 0.157 0.162 1.000 0.747 0.403 0.052 0 4.37 0.517 6.036 0.704 0.802 0.324 1.000 0.715 0.874 0.366 13.641 0.616 Potassium channel\x2c inwardly rectifying\x2c Kir\x2c N-terminal . . 0.4996 0.4997 0.4999 0.5 0.4998 0.4981 0.4997 0.4993 0.4997 0.4931 0.4926 0.4959 0.5 0.4809 0.4952 0.4939 0.4921 het 864.12 101 17 21318698 . C T 864.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.444;DP=101;Dels=0.00;FS=1.002;HRun=1;HaplotypeScore=1.9819;MQ=57.81;MQ0=0;MQRankSum=1.745;QD=8.56;ReadPosRankSum=-0.817;VQSLOD=3.9425;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,35:101:99:894,0,1932 17 21318897 21318897 G C exonic KCNJ12;KCNJ18 synonymous SNV KCNJ18:NM_001194958:exon3:c.G243C:p.R81R,KCNJ12:NM_021012:exon3:c.G243C:p.R81R . . . . . . 0.4993 0.4984 0.4994 0.4992 0.4994 0.4995 0.4989 0.4994 . . . 0.18 0.42 rs1657739 COSM4595016 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4999 0.5 0.4999 0.4997 0.4999 0.4999 0.5000 0.5 0.4999 0.4982 0.4966 0.4975 0.4967 0.4987 0.5 0.4986 0.4979 het 1302.22 156 17 21318897 . G C 1302.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.510;DP=156;Dels=0.00;FS=2.229;HRun=0;HaplotypeScore=4.6735;MQ=56.51;MQ0=0;MQRankSum=0.521;QD=8.35;ReadPosRankSum=-0.483;VQSLOD=2.4938;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,49:156:99:1332,0,3101 17 21319208 21319208 C T exonic KCNJ12;KCNJ18 nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.C554T:p.A185V,KCNJ12:NM_021012:exon3:c.C554T:p.A185V . . . . . . 0.4643 0.4699 0.4504 0.4489 0.4637 0.4634 0.4652 0.4811 . . . 0.11 0.39 rs73979896 COSM3766042 1(haematopoietic_and_lymphoid_tissue);1(liver);1(skin);1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . 0.026 0.469 D 0.984 0.588 D 0.435 0.437 B 0.000 0.843 D 1 0.810 D 2.535 0.741 M -3.76 0.956 D -3.06 0.630 D 0.869 0.895 0.890 0.955 D 0.851 0.950 D . . . 3.218 0.446 22.7 0.999 0.997 0.971 0.726 D c 0.665 0.680 1.0 0.983 0.701 0.575 0 5.32 0.753 7.767 0.840 0.847 0.346 1.000 0.715 0.912 0.389 18.998 0.928 Immunoglobulin E-set|Potassium channel\x2c inwardly rectifying\x2c Kir\x2c cytoplasmic . . 0.4917 0.4928 0.4928 0.4960 0.4850 0.4864 0.4913 0.4953 0.4962 0.4086 0.4913 0.4840 0.2 0.4943 0.4991 0.3283 0.4565 het 1354.14 216 17 21319208 . C T 1354.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.676;DP=216;DS;Dels=0.00;FS=1.842;HRun=0;HaplotypeScore=6.9732;MQ=58.72;MQ0=0;MQRankSum=-0.488;QD=6.27;ReadPosRankSum=-0.627;VQSLOD=2.3698;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:151,65:216:99:1384,0,4796 17 21319230 21319230 G C exonic KCNJ12;KCNJ18 nonsynonymous SNV KCNJ18:NM_001194958:exon3:c.G576C:p.Q192H,KCNJ12:NM_021012:exon3:c.G576C:p.Q192H . . . . . . 0.4975 0.4922 0.4989 0.4990 0.4991 0.4974 0.4978 0.4988 . . . 0.28 0.49 rs1657742 COSM436189 1(breast);2(thyroid);23(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . 0.028 0.461 D 0.004 0.112 B 0.009 0.133 B 0.000 0.629 N 0.998 0.442 D 2.235 0.634 M -3.38 0.942 D -2.06 0.471 N 0.606 0.729 0.178 0.856 D 0.691 0.893 D . . . 2.787 0.396 21.3 0.988 0.466 0.919 0.541 D c 0.043 0.208 1.000 0.747 0.581 0.326 0 5.32 0.753 2.660 0.462 0.948 0.535 1.000 0.715 0.997 0.653 9.678 0.390 Immunoglobulin E-set|Potassium channel\x2c inwardly rectifying\x2c Kir\x2c cytoplasmic . . 0.4993 0.4971 0.4999 0.4987 0.4999 0.4997 0.4992 0.4989 0.4995 0.4970 0.4912 0.5 0.4966 0.4994 0.5 0.4988 0.4990 het 1174.03 175 17 21319230 . G C 1174.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.532;DP=175;DS;Dels=0.00;FS=6.405;HRun=0;HaplotypeScore=4.8773;MQ=57.82;MQ0=0;MQRankSum=1.664;QD=6.71;ReadPosRankSum=0.841;VQSLOD=2.5852;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:121,54:175:99:1204,0,3598 17 21319651 21319653 GAG - exonic KCNJ12;KCNJ18 nonframeshift deletion KCNJ18:NM_001194958:exon3:c.997_999del:p.E334del,KCNJ12:NM_021012:exon3:c.997_999del:p.E334del . . . . . . 0.4945 0.4809 0.4959 0.4948 0.4976 0.4955 0.4911 0.4965 . . . . . rs112163749 COSM278475 11(upper_aerodigestive_tract);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4827 0.4325 0.4756 0.4393 0.4947 0.4898 0.4895 0.4712 0.4829 0.4113 0.4934 0.4867 0.1939 0.4981 0.4997 0.3301 0.4602 het 1252.70 246 17 21319650 . CGAG C 1252.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.045;DP=246;DS;FS=8.852;HRun=0;HaplotypeScore=950.7666;MQ=57.25;MQ0=0;MQRankSum=-0.941;QD=5.03;ReadPosRankSum=-0.990;set=variant2 GT:AD:DP:GQ:PL 0/1:200,49:246:99:1292,0,11173 17 25909850 25909850 G T exonic KSR1 synonymous SNV KSR1:NM_014238:exon5:c.G288T:p.L96L 0.38 0.34 0.44 0.41 0.49 0.27 0.4341 0.3324 0.4997 0.4062 0.5380 0.4638 0.4374 0.3034 0.41 0.32 0.45 0.35 . rs2293181 COSM4129738;COSM4129737 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4390 0.3225 0.4892 0.4520 0.4079 0.5327 0.4610 0.4740 0.3027 0.4321 0.3363 0.4749 0.4536 0.4085 0.5379 0.4598 0.4794 het 516.37 40 17 25909850 . G T 516.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.550;DP=40;Dels=0.00;FS=11.240;HRun=1;HaplotypeScore=1.9940;MQ=57.51;MQ0=0;MQRankSum=-1.052;QD=12.91;ReadPosRankSum=-0.330;VQSLOD=3.3998;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,26:40:99:546,0,310 17 26092631 26092631 A G exonic NOS2 synonymous SNV NOS2:NM_000625:exon20:c.T2358C:p.G786G 0.73 0.81 0.65 0.67 0.61 0.87 0.6637 0.7836 0.6143 0.7009 0.6064 0.6116 0.6849 0.8340 0.67 0.78 0.61 0.78 0.65 rs1060822 COSM4000072 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6573 0.7858 0.6151 0.6808 0.6910 0.6012 0.6085 0.6399 0.8332 0.6641 0.7860 0.6348 0.7384 0.6925 0.5834 0.6118 0.6214 het 1014.32 78 17 26092631 . A G 1014.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.153;DP=78;Dels=0.00;FS=9.535;HRun=0;HaplotypeScore=1.7791;MQ=59.27;MQ0=0;MQRankSum=-0.189;QD=13.00;ReadPosRankSum=-0.425;VQSLOD=4.1473;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,35:78:99:1044,0,1079 17 26684390 26684390 - C exonic;splicing POLDIP2;POLDIP2 NM_001290145:exon1:c.83+1->G;NM_015584:exon1:c.83+1->G unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 0.98 0.99 0.98 . . rs67934205 COSN20113733;COSN1081808;COSN1081809;COSN20113736;COSN20113734;COSN20113735;COSN20113732;COSN215832;COSN15627661;COSN15627662 2(skin);1(prostate);5(central_nervous_system);2(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 0.9999 1 0.9998 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 398.41 14 17 26684390 . G GC 398.41 Mask AC=2;AF=1.00;AN=2;DP=14;FS=0.000;HRun=1;HaplotypeScore=79.5495;MQ=61.31;MQ0=0;QD=28.46;set=variant2 GT:AD:DP:GQ:PL 1/1:2,12:14:36.10:440,36,0 17 26684394 26684394 T G exonic POLDIP2 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 0.43 . rs17856014 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9999 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 366.37 12 17 26684394 . T G 366.37 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=63.51;MQ0=0;QD=30.53;VQSLOD=6.7100;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:399,30,0 17 26691321 26691321 A G exonic SEBOX nonsynonymous SNV SEBOX:NM_001080837:exon3:c.T542C:p.L181S 0.88 0.99 0.77 0.99 0.76 0.82 0.8073 0.9639 0.7841 0.9949 0.6890 0.7695 0.7685 0.8324 0.84 0.96 0.78 0.87 . rs9910163 COSM4129761 1(thyroid) . . . . . . . . . . . . . . 0.0 0.067 B 0.0 0.013 B 0.063 0.220 N 1 0.248 P -1.79 0.003 N . . . . . . 0.169 0.204 -0.922 0.452 T 0.000 0.000 T . . . 0.433 0.136 6.893 0.716 0.094 0.031 0.079 N c -1.490 -1.307 0.139 0.172 0.523 0.210 0 2.09 0.260 0.094 0.148 -0.740 0.035 0.000 0.063 0.458 0.264 12.953 0.576 . ENSG00000109084.9|ENSG00000004142.7|ENSG00000244045.6|ENSG00000267259.1 Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Testis 0.7947 0.9659 0.7735 0.7871 0.9957 0.6783 0.7626 0.7811 0.8281 0.8074 0.9592 0.7745 0.7914 0.9951 0.6675 0.7380 0.7387 hom 644.17 23 17 26691321 . A G 644.17 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.01;VQSLOD=13.9895;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:54.16:677,54,0 17 26696680 26696680 T A exonic VTN nonsynonymous SNV VTN:NM_000638:exon3:c.A377T:p.E126V 0.0024 . 0.0058 . 0.008 . 0.0048 0.0011 0.0008 0 0.0172 0.0067 0.0011 6.077e-05 0.0045 0.0016 0.0059 . 0.016 rs112887300 . . . . . . . . . . . . . 0.285 0.152 T 0.011 0.147 B 0.003 0.080 B 0.547 0.053 N 1.000 0.090 N 1.245 0.315 L 3.6 0.045 T -0.67 0.193 N 0.25 0.305 -0.922 0.453 T 0.006 0.019 T . . . 0.411 0.134 6.708 0.833 0.142 0.267 0.228 N c -1.096 -1.084 1.000 0.517 0.421 0.056 0 0.354 0.152 0.082 0.146 0.102 0.200 0.000 0.063 0.002 0.062 2.276 0.038 . . . 0.0049 0.0009 0.0014 0.0001 0 0.0182 0.0063 0.0053 3.251e-05 0.0051 0.0010 0.0012 0 0 0.0192 0.0050 0.0071 het 969.62 57 17 26696680 . T A 969.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.521;DP=57;Dels=0.00;FS=1.053;HRun=0;HaplotypeScore=0.9894;MQ=60.00;MQ0=0;MQRankSum=0.106;QD=17.01;ReadPosRankSum=-1.472;VQSLOD=5.1315;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,34:57:99:1000,0,644 17 26708300 26708300 T C exonic SARM1 synonymous SNV SARM1:NM_015077:exon6:c.T546C:p.S182S 1. 1. 1. 1. 1. 1. 0.0769 0 0 0 . 0.1 . . . . . . . rs71373645 COSM3766054 1(liver);2(thyroid);22(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0117 0.0556 0 0 0 0.0667 0.0097 0 0 . . . . . . . . hom 434.19 17 17 26708300 . T C 434.19 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.32;MQ0=0;QD=25.54;VQSLOD=6.7291;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.10:467,39,0 17 26708302 26708302 G T exonic SARM1 nonsynonymous SNV SARM1:NM_015077:exon6:c.G548T:p.G183V 1. 1. 1. 1. 1. 1. 9.192e-06 0 0 0.0001 0 0 0 0 0.88 0.87 0.89 . . rs71373646 COSM4129765 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8.584e-06 7.462e-05 0 0 6.013e-05 0 0 0 0 . . . . . . . . hom 452.89 16 17 26708302 . G T 452.89 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.95;MQ0=0;QD=28.31;VQSLOD=7.6196;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:486,39,0 17 26708304 26708304 T G exonic SARM1 nonsynonymous SNV SARM1:NM_015077:exon6:c.T550G:p.S184A 1. 1. 1. 1. 1. 1. 0.0833 0 0 0.5 . . . 0 0.99 0.99 0.99 . . rs71373647 COSM4129766 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.292e-06 0 0 0 6.013e-05 0 0 0 0 . . . . . . . . hom 388.68 15 17 26708304 . T G 388.68 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.504;DP=15;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=53.52;MQ0=0;MQRankSum=-0.116;QD=25.91;ReadPosRankSum=0.347;VQSLOD=7.3923;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,14:15:33.10:422,33,0 17 26817537 26817537 G A exonic SLC13A2 synonymous SNV SLC13A2:NM_001145975:exon3:c.G444A:p.A148A,SLC13A2:NM_003984:exon3:c.G297A:p.A99A,SLC13A2:NM_001346683:exon4:c.G165A:p.A55A,SLC13A2:NM_001346684:exon5:c.G84A:p.A28A 0.15 0.17 0.16 0.045 0.21 0.18 0.1869 0.1603 0.1118 0.0345 0.2778 0.2155 0.2035 0.1838 0.19 0.16 0.21 0.11 0.12 rs11568466 COSM3755356;COSM3755357 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1873 0.1604 0.1188 0.2270 0.0326 0.2838 0.2129 0.2118 0.1824 0.1985 0.1605 0.1217 0.2219 0.0309 0.2864 0.2224 0.1933 het 2807.22 213 17 26817537 . G A 2807.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.752;DP=213;DS;Dels=0.00;FS=3.326;HRun=0;HaplotypeScore=8.5025;MQ=59.57;MQ0=0;MQRankSum=-0.394;QD=13.18;ReadPosRankSum=-0.260;VQSLOD=4.5337;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,98:213:99:2837,0,3073 17 26824156 26824156 A G exonic SLC13A2 nonsynonymous SNV SLC13A2:NM_001145975:exon12:c.A1795G:p.I599V,SLC13A2:NM_003984:exon12:c.A1648G:p.I550V,SLC13A2:NM_001346683:exon13:c.A1516G:p.I506V,SLC13A2:NM_001346684:exon14:c.A1435G:p.I479V 0.47 0.64 0.53 0.35 0.37 0.44 0.4042 0.6027 0.5357 0.3641 0.3632 0.3507 0.3863 0.4415 0.42 0.58 0.35 0.45 0.33 rs11567842 COSM3755358;COSM148219 1(haematopoietic_and_lymphoid_tissue);1(stomach);4(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.491 0.121 N 1.000 0.090 P -1.71 0.003 N 3.99 0.033 T 0.31 0.040 N 0.112 0.121 -1.008 0.274 T 0.000 0.000 T . . . -0.301 0.068 0.662 0.653 0.075 0.221 0.214 N c -1.095 -0.861 0.611 0.218 0.428 0.059 0 3.21 0.358 0.454 0.214 -0.792 0.032 0.128 0.231 0.511 0.273 8.120 0.300 . ENSG00000109101.3|ENSG00000109101.3 Testis|Thyroid 0.4047 0.6017 0.5271 0.3686 0.3634 0.3637 0.3483 0.4030 0.4423 0.4249 0.6018 0.5096 0.3367 0.3776 0.3612 0.3432 0.3629 het 2152.20 208 17 26824156 . A G 2152.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.551;DP=208;Dels=0.00;FS=1.818;HRun=1;HaplotypeScore=3.7646;MQ=58.49;MQ0=0;MQRankSum=0.139;QD=10.35;ReadPosRankSum=-0.307;VQSLOD=5.8222;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:127,81:208:99:2182,0,3185 17 26864302 26864302 G C exonic FOXN1 nonsynonymous SNV FOXN1:NM_003593:exon8:c.G1795C:p.A599P 0.39 0.63 0.39 0.22 0.33 0.31 0.3229 0.5878 0.3520 0.2171 0.3189 0.2933 0.3218 0.3121 0.38 0.57 0.28 0.53 0.25 rs532648 COSM4000076 1(haematopoietic_and_lymphoid_tissue) Benign|Benign T-cell_immunodeficiency\x2c_congenital_alopecia_and_nail_dystrophy|not_specified RCV000399481.1|RCV000436902.1 MedGen:OMIM:Orphanet|MedGen C1866426:601705:ORPHA169095|CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.064 0.220 N 1 0.090 P -0.895 0.014 N -3.02 0.923 D 1.83 0.005 N 0.081 0.074 -0.949 0.412 T 0.000 0.000 T . . . -1.377 0.020 0.004 0.572 0.056 0.004 0.020 N c -1.866 -1.662 0.001 0.083 0.403 0.052 0 2.18 0.267 0.071 0.143 -1.121 0.018 0.000 0.063 0.066 0.174 5.147 0.142 . ENSG00000258472.4|ENSG00000109101.3 Artery_Tibial|Thyroid 0.3197 0.5865 0.3635 0.2748 0.2167 0.3222 0.2922 0.3179 0.3097 0.3734 0.5856 0.3369 0.2881 0.2208 0.3219 0.2870 0.3002 het 1082.78 68 17 26864302 . G C 1082.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.271;DP=68;Dels=0.00;FS=4.950;HRun=4;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=-1.170;QD=15.92;ReadPosRankSum=0.665;VQSLOD=4.9567;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,37:68:99:1113,0,898 17 27009749 27009749 C T exonic SUPT6H synonymous SNV SUPT6H:NM_003170:exon14:c.C1602T:p.G534G,SUPT6H:NM_001320755:exon15:c.C1602T:p.G534G 0.4 0.032 0.46 0.6 0.56 0.5 0.5099 0.1045 0.4683 0.5792 0.5469 0.5721 0.5099 0.4905 0.42 0.12 0.58 0.3 0.64 rs12051648 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5134 0.0998 0.4654 0.5719 0.5839 0.5325 0.5703 0.5254 0.4912 0.4290 0.1117 0.4809 0.5464 0.5765 0.5206 0.5646 0.5297 hom 3944.53 140 17 27009749 . C T 3944.53 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.86;MQ0=0;QD=28.18;VQSLOD=8.1444;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:3944,307,0 17 27185827 27185827 C T exonic ERAL1 synonymous SNV ERAL1:NM_001317985:exon7:c.C942T:p.D314D,ERAL1:NM_005702:exon7:c.C945T:p.D315D 0.77 0.88 0.69 0.75 0.81 0.67 0.7794 0.8670 0.6810 0.7259 0.8161 0.8079 0.7905 0.6916 0.82 0.87 0.8 0.79 0.8 rs2242345 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7721 0.8673 0.6873 0.7691 0.7354 0.8096 0.8056 0.7811 0.6894 0.8143 0.8666 0.6830 0.7881 0.7478 0.8071 0.8002 0.8194 hom 7962.12 242 17 27185827 . C T 7962.12 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.012;DP=242;DS;Dels=0.00;FS=2.937;HRun=0;HaplotypeScore=2.6212;MQ=59.14;MQ0=0;MQRankSum=2.017;QD=32.90;ReadPosRankSum=0.622;VQSLOD=4.8242;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:3,239:242:99:7889,572,0 17 27284443 27284443 A G exonic SEZ6 nonsynonymous SNV SEZ6:NM_001098635:exon12:c.T2417C:p.M806T,SEZ6:NM_001290202:exon12:c.T2042C:p.M681T,SEZ6:NM_178860:exon12:c.T2417C:p.M806T 0.19 0.22 0.19 0.12 0.12 0.29 0.1554 0.2120 0.1567 0.1016 0.1265 0.1302 0.1592 0.2623 0.15 0.2 0.12 0.17 . rs12941884 COSM3755362;COSM3755363 1(large_intestine) . . . . . . . . . . . 1.0 0.022 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.588 P -0.61 0.022 N -0.11 0.645 T 1.28 0.010 N 0.313 0.374 -1.072 0.089 T 0.000 0.000 T . . . 0.662 0.157 8.578 0.767 0.112 0.142 0.181 N c -0.846 -0.576 0.967 0.289 0.635 0.413 0 3.65 0.408 2.183 0.420 0.104 0.200 0.994 0.380 0.943 0.417 8.026 0.294 Sushi/SCR/CCP domain . . 0.1537 0.2114 0.1520 0.1478 0.1059 0.1287 0.1293 0.1449 0.2640 0.1517 0.2156 0.1579 0.1556 0.1012 0.1194 0.1286 0.1288 het 1020.56 93 17 27284443 . A G 1020.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.843;DP=93;Dels=0.00;FS=13.953;HRun=0;HaplotypeScore=5.3462;MQ=58.44;MQ0=0;MQRankSum=-0.012;QD=10.97;ReadPosRankSum=-0.945;VQSLOD=3.2454;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,39:93:99:1051,0,1468 17 27286851 27286851 T C exonic SEZ6 nonsynonymous SNV SEZ6:NM_001098635:exon8:c.A1636G:p.T546A,SEZ6:NM_001290202:exon8:c.A1261G:p.T421A,SEZ6:NM_178860:exon8:c.A1636G:p.T546A 0.36 0.5 0.32 0.24 0.25 0.44 0.2953 0.4797 0.2677 0.2467 0.2726 0.2596 0.2867 0.3841 0.31 0.43 0.26 0.41 . rs1976165 . . . . . . . . . . . . . 0.309 0.146 T 0.0 0.026 B 0.0 0.013 B 0.000 0.486 N 1.000 0.810 P 0.735 0.189 N -0.06 0.636 T -0.26 0.112 N 0.131 0.150 -0.940 0.426 T 0.000 0.000 T . . . 1.884 0.287 15.49 0.936 0.228 0.131 0.175 N c -0.316 -0.144 1.000 0.517 0.635 0.413 0 5.07 0.680 5.857 0.691 0.016 0.142 1.000 0.715 0.784 0.331 11.883 0.517 Sushi/SCR/CCP domain . . 0.2834 0.4675 0.2600 0.2720 0.2401 0.2657 0.2515 0.2804 0.3747 0.3047 0.4577 0.2931 0.2914 0.2348 0.2628 0.2367 0.2648 het 537 43 17 27286851 . T C 537 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.645;DP=43;Dels=0.00;FS=1.256;HRun=0;HaplotypeScore=2.3972;MQ=59.46;MQ0=0;MQRankSum=1.157;QD=12.49;ReadPosRankSum=0.353;VQSLOD=6.7076;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,23:43:99:567,0,473 17 27401176 27401176 G C exonic TIAF1 synonymous SNV TIAF1:NM_004740:exon1:c.C42G:p.L14L 0.0048 . . 0.001 0.021 0.002 0.0124 0.0030 0.0040 0.0001 0.0191 0.0176 0.0090 0.0065 0.012 0.0041 0.016 . 0.041 rs1049848 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0116 0.0033 0.0045 0.0011 5.807e-05 0.0195 0.0181 0.0101 0.0050 0.0140 0.0021 0.0012 0 0 0.0249 0.0209 0.0153 het 1414.81 108 17 27401176 . G C 1414.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.014;DP=108;Dels=0.00;FS=1.570;HRun=0;HaplotypeScore=0.9159;MQ=58.89;MQ0=0;MQRankSum=-0.363;QD=13.10;ReadPosRankSum=-2.266;VQSLOD=5.2785;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,54:108:99:1445,0,1418 17 27424316 27424316 G A exonic MYO18A synonymous SNV MYO18A:NM_001346767:exon27:c.C4155T:p.T1385T,MYO18A:NM_001346768:exon27:c.C2781T:p.T927T,MYO18A:NM_078471:exon27:c.C4155T:p.T1385T,MYO18A:NM_203318:exon27:c.C4155T:p.T1385T,MYO18A:NM_001346766:exon28:c.C4191T:p.T1397T,MYO18A:NM_001346765:exon29:c.C4212T:p.T1404T 0.26 0.18 0.16 0.58 0.17 0.23 0.1919 0.1838 0.1904 0.5346 0.1277 0.1502 0.1920 0.2125 0.16 0.17 0.15 0.34 . rs8067806 COSM5034302;COSM5505513;COSM5034301 1(skin);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1899 0.1795 0.1845 0.1740 0.5367 0.1227 0.1483 0.1805 0.2084 0.1707 0.1770 0.1909 0.16 0.5509 0.1313 0.1345 0.1687 het 651.17 50 17 27424316 . G A 651.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.379;DP=50;Dels=0.00;FS=1.387;HRun=0;HaplotypeScore=2.4875;MQ=58.69;MQ0=0;MQRankSum=0.359;QD=13.02;ReadPosRankSum=0.417;VQSLOD=6.4615;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:681,0,756 17 27425132 27425132 C T exonic MYO18A synonymous SNV MYO18A:NM_001346767:exon25:c.G3981A:p.K1327K,MYO18A:NM_001346768:exon25:c.G2607A:p.K869K,MYO18A:NM_078471:exon25:c.G3981A:p.K1327K,MYO18A:NM_203318:exon25:c.G3981A:p.K1327K,MYO18A:NM_001346766:exon26:c.G4017A:p.K1339K,MYO18A:NM_001346765:exon27:c.G4038A:p.K1346K 0.0042 . . 0.001 0.018 0.002 0.0096 0.0022 0.0035 0.0001 0.0130 0.0137 0.0056 0.0054 0.0097 0.0028 0.013 . . rs71369700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0092 0.0027 0.0040 0.0010 5.798e-05 0.0120 0.0147 0.0086 0.0043 0.0109 0.0018 0.0012 0 0 0.0137 0.0175 0.0102 het 3939.55 250 17 27425132 . C T 3939.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.095;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5810;MQ=59.43;MQ0=0;MQRankSum=-0.191;QD=15.76;ReadPosRankSum=-0.842;VQSLOD=5.6201;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3268,0,3964 17 27438469 27438469 G A exonic MYO18A nonsynonymous SNV MYO18A:NM_001346767:exon17:c.C2873T:p.A958V,MYO18A:NM_001346768:exon17:c.C1499T:p.A500V,MYO18A:NM_078471:exon17:c.C2873T:p.A958V,MYO18A:NM_203318:exon17:c.C2873T:p.A958V,MYO18A:NM_001346766:exon18:c.C2909T:p.A970V,MYO18A:NM_001346765:exon19:c.C2930T:p.A977V 0.53 0.4 0.41 0.87 0.45 0.51 0.4925 0.4324 0.4211 0.8461 0.4626 0.4659 0.5263 0.4986 0.43 0.41 0.45 0.62 . rs8076604 . . . . . . . . . . . . . 0.122 0.276 T 0.997 0.899 D 0.95 0.850 D 0.000 0.843 D 0.000 0.588 P 0.66 0.163 N -2.1 0.862 D -3.63 0.697 D 0.509 0.579 -0.904 0.475 T 0.000 0.000 T . . . 6.841 0.928 33 0.999 0.978 0.991 0.916 D c 0.530 0.592 1.000 0.747 0.707 0.730 0 5.29 0.743 9.583 0.973 0.953 0.551 1.000 0.715 0.999 0.750 18.933 0.925 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000176927.10|ENSG00000196535.10 Stomach|Testis 0.4750 0.4128 0.4002 0.5527 0.8470 0.4334 0.4476 0.4617 0.4829 0.4552 0.4161 0.3878 0.5267 0.8507 0.4372 0.4413 0.4651 hom 367.23 14 17 27438469 . G A 367.23 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.23;VQSLOD=13.8665;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:33.10:400,33,0 17 27441077 27441077 C G exonic MYO18A synonymous SNV MYO18A:NM_001346767:exon15:c.G2550C:p.P850P,MYO18A:NM_001346768:exon15:c.G1176C:p.P392P,MYO18A:NM_078471:exon15:c.G2550C:p.P850P,MYO18A:NM_203318:exon15:c.G2550C:p.P850P,MYO18A:NM_001346766:exon16:c.G2586C:p.P862P,MYO18A:NM_001346765:exon17:c.G2607C:p.P869P 0.69 0.74 0.49 0.91 0.52 0.69 0.6174 0.7386 0.5471 0.8826 0.5465 0.5656 0.6254 0.6721 0.58 0.71 0.51 0.77 . rs12601535 COSM5828510;COSM3755366;COSM3755367 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5595 0.7194 0.4563 0.6060 0.8827 0.4943 0.5059 0.5394 0.6484 0.5865 0.7275 0.4569 0.5762 0.8859 0.4980 0.5025 0.5481 hom 398.26 13 17 27441077 . C G 398.26 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=30.64;VQSLOD=9.1363;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:431,33,0 17 27835138 27835138 C T exonic TAOK1 synonymous SNV TAOK1:NM_020791:exon14:c.C1563T:p.A521A,TAOK1:NM_025142:exon14:c.C1563T:p.A521A 0.83 0.87 0.87 0.78 0.88 0.75 0.8385 0.8850 0.8593 0.7663 0.8106 0.8595 0.8315 0.7589 0.87 0.88 0.87 0.81 0.86 rs508706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8403 0.8882 0.8627 0.8905 0.7724 0.8180 0.8595 0.8509 0.7586 0.8590 0.8860 0.8600 0.8477 0.7726 0.8168 0.8636 0.8429 hom 3296.90 110 17 27835138 . C T 3296.90 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4132;MQ=58.68;MQ0=0;QD=29.97;VQSLOD=7.6232;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3296,256,0 17 27869968 27869968 G A exonic TAOK1 synonymous SNV TAOK1:NM_025142:exon18:c.G2490A:p.T830T,TAOK1:NM_020791:exon20:c.G2934A:p.T978T 0.27 0.18 0.41 0.032 0.46 0.34 0.4027 0.2363 0.4095 0.0277 0.4707 0.4778 0.4007 0.3657 0.39 0.23 0.47 0.26 0.37 rs507577 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3964 0.2185 0.3953 0.4485 0.0272 0.4562 0.4729 0.4212 0.3568 0.3773 0.2197 0.4043 0.4433 0.0266 0.4558 0.4816 0.4416 het 395.51 34 17 27869968 . G A 395.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.880;DP=34;Dels=0.00;FS=1.373;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=1.121;QD=11.63;ReadPosRankSum=-2.087;VQSLOD=5.3759;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,16:34:99:426,0,460 17 27889963 27889963 C G exonic ABHD15 synonymous SNV ABHD15:NM_198147:exon2:c.G1023C:p.P341P 0.22 0.36 0.14 0.2 0.18 0.16 0.1723 0.3426 0.0922 0.2095 0.1348 0.1619 0.1711 0.1584 0.22 0.34 0.17 0.24 0.16 rs721479 COSM4129799 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1654 0.3414 0.0936 0.1930 0.2074 0.1339 0.1610 0.1692 0.1616 0.2129 0.3508 0.1110 0.1933 0.2219 0.1353 0.1597 0.1568 het 1387.60 108 17 27889963 . C G 1387.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.726;DP=108;Dels=0.00;FS=2.501;HRun=3;HaplotypeScore=1.6640;MQ=59.57;MQ0=0;MQRankSum=0.258;QD=12.85;ReadPosRankSum=0.222;VQSLOD=6.5660;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,51:108:99:1418,0,1599 17 27889986 27889986 T C exonic ABHD15 nonsynonymous SNV ABHD15:NM_198147:exon2:c.A1000G:p.T334A 0.77 0.81 0.66 0.9 0.65 0.77 0.6950 0.7744 0.6779 0.8995 0.7025 0.6525 0.6578 0.7207 0.69 0.77 0.66 0.78 0.7 rs542939 COSM3755369 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.308 0.141 T 0.04 0.198 B 0.028 0.201 B 0.082 0.208 N 0.997 0.226 P -1.15 0.009 N 2.84 0.107 T 0.03 0.066 N 0.063 0.048 -1.065 0.105 T 0.000 0.000 T . . . 0.348 0.128 6.145 0.825 0.137 0.166 0.193 N c -0.709 -0.537 0.873 0.254 0.651 0.465 0 2.57 0.298 0.092 0.148 1.061 0.807 0.054 0.214 0.999 0.750 7.814 0.282 Alpha/Beta hydrolase fold|Serine aminopeptidase\x2c S33 . . 0.6926 0.7737 0.6745 0.6272 0.8969 0.6974 0.6536 0.6593 0.7225 0.7096 0.7651 0.6957 0.6523 0.9054 0.6975 0.6636 0.6656 hom 3362.28 99 17 27889986 . T C 3362.28 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.77;MQ0=0;QD=33.96;VQSLOD=9.9756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:99:99:3362,262,0 17 28320248 28320248 T A exonic EFCAB5 nonsynonymous SNV EFCAB5:NM_001145053:exon5:c.T665A:p.I222K,EFCAB5:NM_198529:exon5:c.T833A:p.I278K 0.99 1. 0.97 1. 0.96 1. 0.9818 0.9941 0.9816 1 0.9734 0.9751 0.9799 0.9959 0.98 1. 0.97 1. . rs4795524 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 0.998 0.588 P -2.555 0.000 N 1.37 0.342 T 5.41 0.000 N 0.071 0.318 -0.921 0.454 T 0.000 0.000 T . . . 0.092 0.102 3.521 0.251 0.011 0.012 0.042 N c -0.687 -0.563 0.001 0.073 0.487 0.133 0 5.26 0.734 2.538 0.451 0.242 0.267 0.998 0.411 0.389 0.252 8.469 0.320 . ENSG00000264538.2 Lung 0.9808 0.9935 0.9796 0.9757 0.9999 0.9719 0.9750 0.9715 0.9960 0.9815 0.9926 0.9749 0.9801 0.9994 0.9702 0.9764 0.9786 hom 1462.83 41 17 28320248 . T A 1462.83 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.68;VQSLOD=13.6938;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1496,120,0 17 28381141 28381141 C G exonic EFCAB5 synonymous SNV EFCAB5:NM_001145053:exon10:c.C2001G:p.T667T,EFCAB5:NM_198529:exon10:c.C2169G:p.T723T 0.57 0.93 0.47 0.29 0.57 0.45 0.5915 0.8758 0.5306 0.4169 0.5998 0.5810 0.5925 0.5290 0.64 0.86 0.54 0.6 . rs4074170 COSM4000081 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5201 0.8742 0.4463 0.4454 0.3250 0.5450 0.5370 0.5280 0.4808 0.6225 0.8680 0.4522 0.47 0.3104 0.5583 0.5450 0.5552 hom 410.24 16 17 28381141 . C G 410.24 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=25.64;VQSLOD=7.5298;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:33.11:443,33,0 17 28407876 28407876 T G exonic EFCAB5 synonymous SNV EFCAB5:NM_198529:exon17:c.T3303G:p.G1101G 0.57 0.94 0.47 0.29 0.57 0.44 0.5275 0.8820 0.4248 0.3218 0.5569 0.5304 0.5348 0.4717 0.65 0.87 0.54 0.6 . rs7221743 COSM4000083 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5172 0.8841 0.4329 0.4403 0.3200 0.5474 0.5365 0.5247 0.4687 0.6245 0.8759 0.4532 0.4669 0.3096 0.5579 0.5447 0.5571 hom 1390.48 44 17 28407876 . T G 1390.48 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.20;MQ0=0;QD=31.60;VQSLOD=8.5681;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1423,108,0 17 28576076 28576076 T C exonic BLMH nonsynonymous SNV BLMH:NM_000386:exon12:c.A1327G:p.I443V 0.25 0.2 0.37 0.17 0.33 0.25 0.2998 0.2130 0.3588 0.1751 0.3376 0.3248 0.2720 0.2641 0.29 0.21 0.32 0.25 0.36 rs1050565 COSM3755373 1(haematopoietic_and_lymphoid_tissue);10(soft_tissue);1(large_intestine) Benign BLEOMYCIN_HYDROLASE_POLYMORPHISM RCV000007670.2 . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.034 0.248 N 1.000 0.192 P -2.3 0.001 N 1.06 0.398 T 0.8 0.019 N 0.057 0.048 -0.929 0.444 T 0.000 0.000 T . . . -0.883 0.037 0.028 0.663 0.078 0.115 0.165 N c -1.371 -1.102 0.172 0.178 0.707 0.730 0 1.54 0.222 1.186 0.315 -0.438 0.057 0.521 0.269 0.982 0.498 9.463 0.378 . ENSG00000108576.5|ENSG00000108578.10|ENSG00000108578.10|ENSG00000108576.5|ENSG00000264290.1|ENSG00000264125.1 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.3036 0.2121 0.3514 0.2403 0.1703 0.3454 0.3301 0.3101 0.2645 0.2910 0.2127 0.3577 0.2517 0.1607 0.3495 0.3314 0.3320 het 1724.07 131 17 28576076 . T C 1724.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.369;DP=131;Dels=0.00;FS=5.436;HRun=0;HaplotypeScore=4.0679;MQ=58.49;MQ0=0;MQRankSum=-0.362;QD=13.16;ReadPosRankSum=1.274;VQSLOD=4.8376;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,63:131:99:1754,0,1702 17 28612448 28612448 G C exonic BLMH synonymous SNV BLMH:NM_000386:exon6:c.C603G:p.T201T 0.27 0.26 0.37 0.17 0.33 0.25 0.3046 0.2631 0.3595 0.1797 0.3376 0.3251 0.2720 0.2638 0.3 0.26 0.32 0.25 0.35 rs7342921 COSM3755374 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3048 0.2576 0.3479 0.2441 0.1715 0.3449 0.3287 0.3062 0.2599 0.3043 0.2585 0.3577 0.2517 0.1654 0.3499 0.3316 0.3313 het 820.95 72 17 28612448 . G C 820.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.430;DP=72;Dels=0.00;FS=1.978;HRun=0;HaplotypeScore=1.9568;MQ=59.16;MQ0=0;MQRankSum=0.350;QD=11.40;ReadPosRankSum=-0.723;VQSLOD=6.4346;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,39:72:99:851,0,874 17 29113016 29113016 A G exonic CRLF3 synonymous SNV CRLF3:NM_015986:exon7:c.T993C:p.D331D 0.16 0.14 0.19 0.14 0.11 0.26 0.1430 0.1388 0.1876 0.1330 0.0829 0.1158 0.1222 0.2549 0.12 0.14 0.12 0.17 0.16 rs34756112 COSM4419662 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1394 0.1362 0.1720 0.0972 0.1223 0.0865 0.1159 0.1385 0.2524 0.1176 0.1358 0.1758 0.1159 0.1071 0.0870 0.1119 0.1196 het 1942.48 172 17 29113016 . A G 1942.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.386;DP=172;Dels=0.00;FS=3.555;HRun=0;HaplotypeScore=3.6487;MQ=58.58;MQ0=0;MQRankSum=-2.706;QD=11.29;ReadPosRankSum=1.481;VQSLOD=2.7964;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,84:172:99:1972,0,2082 17 29159404 29159404 G C exonic ATAD5 synonymous SNV ATAD5:NM_024857:exon1:c.G39C:p.P13P 0.29 0.57 0.23 0.13 0.12 0.28 0.1815 0.5009 0.2083 0.1339 0.0891 0.1159 0.1340 0.3026 0.24 0.48 0.11 0.38 0.15 rs999796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1617 0.4904 0.1923 0.0914 0.1220 0.0911 0.1125 0.1527 0.2703 0.2252 0.4939 0.2022 0.1026 0.1069 0.0990 0.1203 0.1475 het 829.38 89 17 29159404 . G C 829.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.170;DP=89;Dels=0.00;FS=0.902;HRun=2;HaplotypeScore=2.4511;MQ=59.11;MQ0=0;MQRankSum=-0.658;QD=9.32;ReadPosRankSum=0.522;VQSLOD=5.9638;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,34:89:99:859,0,1286 17 29161202 29161202 A T exonic ATAD5 nonsynonymous SNV ATAD5:NM_024857:exon2:c.A103T:p.T35S 0.29 0.57 0.23 0.14 0.12 0.28 0.1802 0.5011 0.2093 0.1338 0.0895 0.1154 0.1339 0.2952 0.24 0.48 0.11 0.38 0.14 rs9910051 COSM4418956 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.144 0.182 N 1.000 0.090 P -2.25 0.001 N 3.38 0.058 T 0.81 0.018 N 0.127 0.144 -0.958 0.396 T 0.000 0.000 T . . . -0.065 0.088 2.005 0.860 0.157 0.197 0.205 N c -0.923 -0.588 1.000 0.747 0.651 0.465 0 5.47 0.803 0.862 0.274 0.149 0.237 0.996 0.391 0.983 0.502 6.521 0.213 . ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000231421.3|ENSG00000264538.2|ENSG00000231421.3|ENSG00000231421.3|ENSG00000264538.2|ENSG00000184060.6|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000231421.3|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000263603.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000184060.6|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Vagina|Whole_Blood 0.1666 0.5022 0.1942 0.0905 0.1238 0.0929 0.1153 0.1579 0.2753 0.2249 0.4930 0.1993 0.1026 0.1056 0.0991 0.1203 0.1490 het 1518.22 105 17 29161202 . A T 1518.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.718;DP=105;Dels=0.00;FS=5.119;HRun=1;HaplotypeScore=0.9469;MQ=58.66;MQ0=0;MQRankSum=1.611;QD=14.46;ReadPosRankSum=0.126;VQSLOD=4.5568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,59:105:99:1548,0,1033 17 29161358 29161358 C T exonic ATAD5 nonsynonymous SNV ATAD5:NM_024857:exon2:c.C259T:p.P87S 0.17 0.18 0.19 0.14 0.11 0.26 0.1402 0.1652 0.1895 0.1338 0.0832 0.1078 0.1112 0.2485 0.13 0.17 0.1 0.23 0.13 rs3816780 COSM4418206 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.729 0.064 N 1 0.090 P -2.28 0.001 N 2.37 0.160 T 1.38 0.009 N 0.095 0.095 -0.956 0.400 T 0.000 0.000 T . . . -0.248 0.072 0.868 0.606 0.063 0.008 0.031 N c -1.590 -1.440 0.999 0.399 0.651 0.465 0 1.36 0.210 -0.100 0.109 -0.684 0.039 0.001 0.137 0.013 0.120 5.257 0.148 . ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000264538.2|ENSG00000231421.3|ENSG00000231421.3|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000263531.1|ENSG00000264538.2|ENSG00000172171.6|ENSG00000184060.6|ENSG00000265443.1|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000176208.4|ENSG00000172171.6|ENSG00000231421.3|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000172171.6|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000184060.6|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Testis|Thyroid|Vagina|Whole_Blood 0.1369 0.1649 0.1753 0.0863 0.1234 0.0861 0.1088 0.1347 0.2462 0.1248 0.1654 0.1734 0.0894 0.1070 0.0912 0.1093 0.1211 het 1406.47 107 17 29161358 . C T 1406.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.252;DP=107;Dels=0.00;FS=0.737;HRun=0;HaplotypeScore=0.5784;MQ=59.55;MQ0=0;MQRankSum=0.676;QD=13.14;ReadPosRankSum=-1.362;VQSLOD=6.4556;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,52:107:99:1436,0,1507 17 29161517 29161517 G A exonic ATAD5 nonsynonymous SNV ATAD5:NM_024857:exon2:c.G418A:p.D140N 0.0006 . . . 0.003 . 0.0028 0.0007 0.0003 0 0.0049 0.0043 0 0.0003 0.0033 0.0016 0.0042 0.011 . rs147909444 . . . . . . . . . . . . . 0.001 0.784 D 0.999 0.764 D 0.937 0.655 D 0.129 0.187 N 0.682 0.332 D 2.25 0.640 M 2.25 0.178 T -2.23 0.500 N 0.03 0.058 -0.917 0.460 T 0.103 0.381 T 0.010 0.262 T 4.364 0.584 24.1 0.786 0.119 0.925 0.556 D c 0.544 0.499 1.000 0.747 0.609 0.349 0 5.77 0.910 3.083 0.496 1.048 0.713 1.000 0.715 0.460 0.264 14.526 0.673 . . . 0.0026 0.0005 0.0003 0.0001 0 0.0043 0.0043 0.0010 0.0003 0.0026 0.0005 0.0012 0 0 0.0060 0.0035 0.0031 het 2878.71 249 17 29161517 . G A 2878.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.678;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4122;MQ=59.40;MQ0=0;MQRankSum=-1.182;QD=11.56;ReadPosRankSum=-2.415;VQSLOD=2.6976;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:136,112:249:99:2909,0,3276 17 29161845 29161845 G A exonic ATAD5 nonsynonymous SNV ATAD5:NM_024857:exon2:c.G746A:p.R249K 0.14 0.071 0.19 0.14 0.11 0.26 0.1318 0.0729 0.1844 0.1339 0.0832 0.1076 0.1082 0.2481 0.094 0.074 0.1 0.16 0.09 rs17826219 COSM4419773 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.166 0.231 T 0.372 0.323 B 0.058 0.250 B 0.377 0.044 N 1 0.090 P 1.385 0.346 L 2.37 0.160 T -0.83 0.227 N 0.119 0.132 -1.020 0.235 T 0.000 0.000 T . . . -1.797 0.011 0.002 0.584 0.059 0.215 0.212 N c -0.578 -0.575 1.000 0.458 0.651 0.465 0 3.3 0.368 2.469 0.445 0.127 0.214 0.828 0.299 0.010 0.111 7.933 0.289 . ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000231421.3|ENSG00000231421.3|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000231421.3|ENSG00000172171.6|ENSG00000231421.3|ENSG00000231421.3|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000264538.2|ENSG00000172171.6|ENSG00000263603.1|ENSG00000184060.6|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176208.4|ENSG00000172171.6|ENSG00000231421.3|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000263531.1|ENSG00000264538.2|ENSG00000172171.6|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000263531.1|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Vagina|Whole_Blood 0.1299 0.0693 0.1700 0.0859 0.1229 0.0861 0.1083 0.1310 0.2446 0.0976 0.0706 0.1707 0.0894 0.1060 0.0910 0.1089 0.1153 het 1455.52 121 17 29161845 . G A 1455.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.546;DP=121;Dels=0.00;FS=4.953;HRun=1;HaplotypeScore=1.9978;MQ=58.96;MQ0=0;MQRankSum=-1.337;QD=12.03;ReadPosRankSum=-0.607;VQSLOD=4.8642;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,54:121:99:1486,0,1901 17 29161956 29161961 CAATGT - exonic ATAD5 nonframeshift deletion ATAD5:NM_024857:exon2:c.857_862del:p.M287_S288del 0.14 0.07 0.19 0.14 0.11 0.26 0.1311 0.0724 0.1824 0.1319 0.0822 0.1072 0.1078 0.2474 0.086 0.065 0.097 . . rs72427574 COSM1163659 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1276 0.0687 0.1672 0.0835 0.1214 0.0848 0.1063 0.1294 0.2409 0.0971 0.0708 0.1687 0.09 0.1066 0.0905 0.1078 0.1151 het 842.53 39 17 29161955 . ACAATGT A 842.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.038;DP=39;FS=3.012;HRun=0;HaplotypeScore=240.4105;MQ=50.19;MQ0=0;MQRankSum=-4.043;QD=21.60;ReadPosRankSum=0.738;set=variant2 GT:AD:DP:GQ:PL 0/1:24,15:39:99:882,0,1962 17 29162173 29162173 T C exonic ATAD5 synonymous SNV ATAD5:NM_024857:exon2:c.T1074C:p.P358P 0.18 0.2 0.19 0.14 0.11 0.26 0.1423 0.1856 0.1902 0.1339 0.0832 0.1084 0.1114 0.2483 0.13 0.18 0.1 0.23 0.12 rs11655623 COSM4418957 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1386 0.1840 0.1769 0.0863 0.1234 0.0860 0.1088 0.1361 0.2464 0.1292 0.1813 0.1730 0.0894 0.1066 0.0905 0.1093 0.1204 het 782.86 70 17 29162173 . T C 782.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.618;DP=70;Dels=0.00;FS=6.575;HRun=2;HaplotypeScore=1.4450;MQ=58.98;MQ0=0;MQRankSum=-0.130;QD=11.18;ReadPosRankSum=-2.105;VQSLOD=4.5733;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,31:70:99:813,0,1158 17 29167653 29167653 A C exonic ATAD5 nonsynonymous SNV ATAD5:NM_024857:exon4:c.A2095C:p.N699H 0.14 0.071 0.19 0.14 0.11 0.26 0.1322 0.0739 0.1845 0.1339 0.0832 0.1080 0.1089 0.2481 0.093 0.073 0.1 0.16 0.057 rs3764421 COSM436300 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.001 0.784 D 0.996 0.715 D 0.939 0.657 D 0.813 0.092 N 0.080 0.366 P 2.455 0.715 M 2.94 0.098 T -2.16 0.488 N 0.081 0.074 -1.127 0.019 T 0.000 0.001 T . . . 4.190 0.562 23.8 0.901 0.188 0.968 0.709 D c 0.675 0.678 1.000 0.747 0.651 0.465 0 5.9 0.949 4.531 0.601 1.194 0.916 1.000 0.715 1.000 0.888 16.316 0.827 . ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000231421.3|ENSG00000231421.3|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000231421.3|ENSG00000172171.6|ENSG00000231421.3|ENSG00000231421.3|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000264538.2|ENSG00000172171.6|ENSG00000263603.1|ENSG00000184060.6|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176208.4|ENSG00000172171.6|ENSG00000231421.3|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000263531.1|ENSG00000264538.2|ENSG00000172171.6|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000263531.1|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Vagina|Whole_Blood 0.1299 0.0695 0.1818 0.0895 0.1297 0.0865 0.1102 0.1310 0.2514 0.0977 0.0708 0.1695 0.0906 0.1063 0.0910 0.1089 0.1153 het 2700.99 199 17 29167653 . A C 2700.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.493;DP=199;Dels=0.00;FS=5.773;HRun=0;HaplotypeScore=7.7475;MQ=58.45;MQ0=0;MQRankSum=-1.060;QD=13.57;ReadPosRankSum=2.532;VQSLOD=3.1010;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,108:199:99:2731,0,2365 17 29187497 29187497 A G exonic ATAD5 synonymous SNV ATAD5:NM_024857:exon10:c.A3003G:p.V1001V 0.17 0.18 0.19 0.14 0.11 0.26 0.1404 0.1660 0.1900 0.1352 0.0832 0.1079 0.1115 0.248 0.13 0.17 0.1 0.23 0.098 rs9896095 COSM4417678 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1346 0.1635 0.1728 0.0868 0.1236 0.0864 0.1086 0.1321 0.2441 0.1245 0.1643 0.1730 0.0894 0.1063 0.0909 0.1094 0.1202 het 1031.41 90 17 29187497 . A G 1031.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DP=90;Dels=0.00;FS=4.120;HRun=1;HaplotypeScore=2.6475;MQ=58.91;MQ0=0;MQRankSum=-1.977;QD=11.46;ReadPosRankSum=0.339;VQSLOD=4.7231;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,45:90:99:1061,0,1248 17 29214387 29214387 T C exonic ATAD5 nonsynonymous SNV ATAD5:NM_024857:exon19:c.T4255C:p.Y1419H 0.14 0.072 0.19 0.14 0.11 0.26 0.1315 0.0727 0.1843 0.1339 0.0832 0.1073 0.1082 0.2485 0.094 0.073 0.1 0.16 0.09 rs11657270 COSM4419514 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.576 0.061 T 0.0 0.026 B 0.0 0.013 B 0.506 0.119 N 1 0.090 P 0.2 0.092 N 2.33 0.165 T 0.49 0.030 N 0.015 0.002 -0.934 0.436 T 0.000 0.000 T . . . -0.020 0.092 2.400 0.524 0.046 0.051 0.108 N c -1.157 -1.000 0.005 0.107 0.732 0.924 0 1.95 0.250 0.515 0.223 0.108 0.203 0.070 0.219 0.692 0.307 8.790 0.338 . ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000231421.3|ENSG00000231421.3|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000231421.3|ENSG00000172171.6|ENSG00000231421.3|ENSG00000231421.3|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000264538.2|ENSG00000172171.6|ENSG00000263603.1|ENSG00000184060.6|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176208.4|ENSG00000172171.6|ENSG00000231421.3|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000263531.1|ENSG00000264538.2|ENSG00000172171.6|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000263531.1|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Vagina|Whole_Blood 0.1261 0.0679 0.1668 0.0867 0.1227 0.0861 0.1078 0.1260 0.2446 0.0976 0.0708 0.1695 0.0894 0.1060 0.0905 0.1089 0.1151 het 1649.23 94 17 29214387 . T C 1649.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.880;DP=94;Dels=0.00;FS=3.254;HRun=0;HaplotypeScore=1.7876;MQ=58.96;MQ0=0;MQRankSum=3.097;QD=17.55;ReadPosRankSum=-0.493;VQSLOD=4.2893;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,59:94:99:1679,0,843 17 29226228 29226228 T C exonic TEFM nonsynonymous SNV TEFM:NM_024683:exon4:c.A1042G:p.I348V 0.14 0.072 0.19 0.14 0.11 0.26 0.1327 0.0719 0.1844 0.1334 0.0832 0.1079 0.1081 0.2577 0.094 0.07 0.1 0.16 0.11 rs2433 COSM4417195 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.030 0.253 N 1.000 0.588 P -1.16 0.009 N 0.92 0.445 T . . . 0.018 0.003 -1.024 0.226 T 0.000 0.000 T . . . -1.453 0.018 0.003 0.668 0.079 0.023 0.066 N c -1.714 -1.560 0.011 0.121 0.707 0.730 0 -3.95 0.038 -0.191 0.095 -1.839 0.006 0.001 0.137 0.929 0.403 13.169 0.588 Ribonuclease H-like domain ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000231421.3|ENSG00000231421.3|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000231421.3|ENSG00000172171.6|ENSG00000231421.3|ENSG00000231421.3|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000264538.2|ENSG00000172171.6|ENSG00000263603.1|ENSG00000184060.6|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000172171.6|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176390.10|ENSG00000172171.6|ENSG00000264538.2|ENSG00000176208.4|ENSG00000172171.6|ENSG00000231421.3|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000263531.1|ENSG00000264538.2|ENSG00000172171.6|ENSG00000263531.1|ENSG00000264538.2|ENSG00000264538.2|ENSG00000263531.1|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10|ENSG00000264538.2|ENSG00000176390.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Vagina|Whole_Blood 0.1302 0.0696 0.1701 0.0863 0.1230 0.0857 0.1083 0.1306 0.2464 0.0976 0.0709 0.1695 0.0894 0.1060 0.0910 0.1087 0.1151 het 2746.83 190 17 29226228 . T C 2746.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.494;DP=190;DS;Dels=0.00;FS=3.691;HRun=0;HaplotypeScore=4.3202;MQ=59.03;MQ0=0;MQRankSum=2.350;QD=14.46;ReadPosRankSum=0.485;VQSLOD=4.8283;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,97:190:99:2777,0,2668 17 29508775 29508775 G A exonic NF1 synonymous SNV NF1:NM_000267:exon7:c.G702A:p.L234L,NF1:NM_001042492:exon7:c.G702A:p.L234L,NF1:NM_001128147:exon7:c.G702A:p.L234L 0.51 0.23 0.53 0.55 0.72 0.63 0.6228 0.2922 0.4920 0.5566 0.6567 0.6987 0.6575 0.6342 0.57 0.31 0.71 0.43 0.75 rs1801052 COSM3755377;COSM3755378 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign Hereditary_cancer-predisposing_syndrome|not_specified|Neurofibromatosis\x2c_familial_spinal|Neurofibromatosis\x2c_type_1|Neurofibromatosis-Noonan_syndrome|Café-au-lait_macules_with_pulmonary_stenosis RCV000162647.1|RCV000218671.3|RCV000279983.1|RCV000319858.1|RCV000334631.1|RCV000374483.1 MedGen:SNOMED_CT|MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen:OMIM:SNOMED_CT C0027672:699346009|CN169374|C1834235:162210|C0027831:162200:ORPHA636:92824003|C2931482:601321:ORPHA638|C0553586:193520:403820003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6280 0.2905 0.5061 0.7771 0.5602 0.6620 0.6975 0.6661 0.6347 0.5603 0.3000 0.5365 0.7285 0.5877 0.6524 0.6802 0.6534 hom 1824.44 63 17 29508775 . G A 1824.44 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=54.96;MQ0=0;QD=28.96;VQSLOD=7.0563;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1857,147,0 17 29646032 29646032 G A exonic EVI2A synonymous SNV EVI2A:NM_001003927:exon3:c.C69T:p.S23S 0.59 0.72 0.46 0.45 0.64 0.62 0.5966 0.7183 0.3871 0.4391 0.6095 0.6251 0.5971 0.6301 0.67 0.72 0.64 0.65 0.7 rs1129506 COSM4000091 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454832.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5901 0.7183 0.4135 0.7032 0.4350 0.6147 0.6231 0.6078 0.6232 0.6298 0.7179 0.4689 0.6954 0.4404 0.6076 0.6134 0.6053 hom 7173.83 244 17 29646032 . G A 7173.83 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0265;MQ=58.95;MQ0=0;QD=29.40;VQSLOD=7.8239;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:244:99:7173,581,0 17 30183857 30183857 T C exonic COPRS nonsynonymous SNV COPRS:NM_001330176:exon2:c.A91G:p.S31G,COPRS:NM_018405:exon2:c.A127G:p.S43G 0.9 1. 0.83 0.87 0.87 0.9 0.8826 0.9753 0.8189 0.8757 0.8883 0.8782 0.8744 0.8881 0.91 0.97 0.88 0.94 0.89 rs8068049 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.755 0.065 N 1 0.090 P -0.315 0.036 N 1.19 0.376 T 2.45 0.002 N 0.011 0.004 -0.990 0.326 T 0.000 0.000 T . . . -3.781 0.000 0.001 0.227 0.009 0.002 0.011 N c -2.303 -2.352 1.000 0.747 0.706 0.609 0 -7.21 0.013 -2.984 0.007 -3.181 0.001 0.000 0.063 0.000 0.016 2.484 0.043 . ENSG00000263990.1|ENSG00000172301.6|ENSG00000108651.5|ENSG00000172301.6|ENSG00000172301.6|ENSG00000172301.6|ENSG00000172301.6 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.8793 0.9766 0.8273 0.8625 0.8792 0.8843 0.8801 0.8723 0.8865 0.9085 0.9749 0.8174 0.8833 0.8824 0.8878 0.8848 0.8827 hom 7752.47 249 17 30183857 . T C 7752.47 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6288;MQ=59.19;MQ0=0;QD=31.13;VQSLOD=6.9189;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7751,671,0 17 30533970 30533970 A G exonic RHOT1 synonymous SNV RHOT1:NM_001033566:exon17:c.A1458G:p.E486E,RHOT1:NM_001033568:exon17:c.A1458G:p.E486E,RHOT1:NM_001288754:exon17:c.A1458G:p.E486E,RHOT1:NM_001288755:exon17:c.A1395G:p.E465E,RHOT1:NM_018307:exon17:c.A1458G:p.E486E,RHOT1:NM_001033567:exon18:c.A1077G:p.E359E,RHOT1:NM_001288758:exon18:c.A1077G:p.E359E 0.32 0.58 0.23 0.22 0.19 0.28 0.2330 0.5158 0.2719 0.2286 0.1446 0.1808 0.2135 0.2770 0.29 0.5 0.18 0.39 0.12 rs16967164 COSM1128764 1(haematopoietic_and_lymphoid_tissue);1(prostate);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2233 0.5157 0.2577 0.2078 0.2295 0.1431 0.1773 0.2069 0.2712 0.2695 0.5071 0.2387 0.2351 0.2268 0.1428 0.1737 0.1874 het 1473.42 93 17 30533970 . A G 1473.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.003;DP=93;Dels=0.00;FS=0.959;HRun=0;HaplotypeScore=0.9983;MQ=59.35;MQ0=0;MQRankSum=0.220;QD=15.84;ReadPosRankSum=1.517;VQSLOD=6.2533;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,51:93:99:1503,0,1185 17 30692396 30692396 G T exonic ZNF207 nonsynonymous SNV ZNF207:NM_003457:exon7:c.G670T:p.A224S,ZNF207:NM_001032293:exon8:c.G718T:p.A240S,ZNF207:NM_001098507:exon8:c.G718T:p.A240S 0.047 0.011 0.032 0.047 0.069 0.083 0.0562 0.0143 0.0327 0.0423 0.0482 0.0628 0.0573 0.0827 0.046 0.015 0.061 0.087 0.041 rs3795244 COSM5828517;COSM3755383 1(large_intestine) . . . . . . . . . . . 0.371 0.115 T 0.748 0.413 P 0.156 0.394 B 0.000 0.843 D 1.000 0.810 D 1.575 0.398 L 0.85 0.510 T -0.67 0.193 N 0.14 0.301 -1.133 0.016 T 0.014 0.058 T . . . 4.514 0.604 24.3 0.993 0.570 0.992 0.928 D c 0.301 0.421 1.000 0.747 0.707 0.730 0 5.87 0.942 5.062 0.639 0.994 0.605 1.000 0.715 0.998 0.697 20.212 0.983 . . . 0.0563 0.0125 0.0319 0.0878 0.0454 0.0429 0.0625 0.0659 0.0859 0.0402 0.0123 0.0407 0.0894 0.0315 0.0421 0.0546 0.0612 het 1228.45 104 17 30692396 . G T 1228.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.566;DP=104;Dels=0.00;FS=4.926;HRun=0;HaplotypeScore=0.9578;MQ=59.15;MQ0=0;MQRankSum=-1.192;QD=11.81;ReadPosRankSum=-0.340;VQSLOD=5.5958;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,49:104:99:1258,0,1482 17 31618732 31618732 A G exonic ASIC2 synonymous SNV ASIC2:NM_183377:exon1:c.T402C:p.T134T 0.56 0.57 0.59 0.76 0.49 0.39 0.5165 0.5621 0.6173 0.7458 0.5163 0.4874 0.5137 0.4151 0.52 0.55 0.5 0.18 0.46 rs9893935 COSM436361 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5191 0.5623 0.5969 0.5295 0.7514 0.5097 0.4830 0.5217 0.4167 0.5255 0.5480 0.5811 0.5298 0.7451 0.5043 0.4918 0.5021 het 529.79 41 17 31618732 . A G 529.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.343;DP=41;Dels=0.00;FS=2.709;HRun=1;HaplotypeScore=0.0000;MQ=57.71;MQ0=0;MQRankSum=-0.170;QD=12.92;ReadPosRankSum=-0.900;VQSLOD=4.5628;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,21:41:99:560,0,561 17 32612894 32612894 G A exonic CCL11 nonsynonymous SNV CCL11:NM_002986:exon1:c.G67A:p.A23T 0.14 0.084 0.14 0.2 0.17 0.15 0.1646 0.0898 0.1243 0.1747 0.1637 0.1832 0.1920 0.1585 0.15 0.093 0.18 0.21 0.098 rs1129844 COSM4000094 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.124 0.274 T 0.43 0.338 B 0.112 0.300 B 0.248 0.156 N 1 0.090 P . . . 4.15 0.028 T -2.92 0.611 D 0.074 0.064 -0.897 0.483 T 0.000 0.000 T . . . 0.116 0.105 3.782 0.810 0.130 0.048 0.104 N c -1.165 -1.238 0.000 0.012 0.487 0.133 0 -1.52 0.081 0.241 0.177 -0.237 0.093 0.028 0.201 0.019 0.132 5.813 0.176 . . . 0.1643 0.0879 0.1316 0.2133 0.1731 0.1650 0.1796 0.1890 0.1562 0.1478 0.0872 0.1384 0.2384 0.1691 0.1657 0.1745 0.1633 het 3131.53 202 17 32612894 . G A 3131.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.366;DP=202;DS;Dels=0.00;FS=9.271;HRun=0;HaplotypeScore=9.3582;MQ=59.00;MQ0=0;MQRankSum=0.832;QD=15.50;ReadPosRankSum=0.656;VQSLOD=3.3769;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,115:202:99:3162,0,2369 17 32904586 32904586 C T exonic C17orf102 nonsynonymous SNV C17orf102:NM_207454:exon2:c.G464A:p.R155K 0.8 0.86 0.8 0.78 0.83 0.69 0.8248 0.8578 0.8212 0.7667 0.9131 0.8452 0.8616 0.7180 0.86 0.87 0.85 0.86 . rs887230 COSM5438078 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8243 0.8596 0.8150 0.8133 0.7596 0.9108 0.8444 0.8371 0.7202 0.8616 0.8646 0.8122 0.8179 0.7611 0.9100 0.8627 0.8673 het 583.62 52 17 32904586 . C T 583.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.121;DP=52;Dels=0.00;FS=3.296;HRun=1;HaplotypeScore=0.7887;MQ=59.56;MQ0=0;MQRankSum=-0.602;QD=11.22;ReadPosRankSum=-1.621;VQSLOD=6.0688;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:614,0,962 17 33288882 33288882 T G exonic ZNF830 nonsynonymous SNV ZNF830:NM_052857:exon1:c.T297G:p.H99Q 0.88 0.68 0.97 0.93 0.98 0.94 0.9431 0.6972 0.9683 0.9244 0.9356 0.9809 0.9559 0.9393 0.89 0.71 0.98 0.79 0.89 rs931196 COSM3724344 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.095 0.201 N 1 0.090 P -0.625 0.021 N 2.64 0.128 T 0.69 0.022 N 0.027 0.009 -0.983 0.343 T 0.000 0.000 T . . . -1.283 0.023 0.005 0.525 0.047 0.001 0.008 N c -1.365 -1.272 1.000 0.747 0.442 0.072 0 2.27 0.274 0.149 0.159 0.136 0.221 0.000 0.063 0.053 0.166 7.073 0.242 . . . 0.9483 0.6977 0.9679 0.9949 0.9212 0.9372 0.9806 0.9611 0.9406 0.8891 0.7008 0.9628 0.9834 0.9235 0.9321 0.9752 0.9440 hom 5518.90 159 17 33288882 . T G 5518.90 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=34.71;VQSLOD=9.7019;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5518,436,0 17 33430313 33430313 T C exonic RAD51D nonsynonymous SNV RAD51D:NM_133629:exon5:c.A362G:p.E121G,RAD51D:NM_001142571:exon8:c.A758G:p.E253G,RAD51D:NM_002878:exon8:c.A698G:p.E233G 0.0044 . 0.013 . 0.011 0.002 0.0114 0.0038 0.0103 0 0.0005 0.0171 0.0032 0.0042 0.013 0.0045 0.017 . 0.0082 rs28363284 . . Benign|other|Benign|Likely benign Hereditary_cancer-predisposing_syndrome|Breast-ovarian_cancer\x2c_familial_4|not_specified|Breast_and_Ovarian_Cancer_Susceptibility RCV000128967.5|RCV000203773.2|RCV000212967.1|RCV000381915.1 MedGen:SNOMED_CT|MedGen:OMIM|MedGen|MedGen C0027672:699346009|C3280345:614291|CN169374|CN239207 . . . . . . 0.065 0.363 T 1.0 0.899 D 0.999 0.916 D 0.000 0.523 D 1.000 0.588 D 1.85 0.492 L -0.22 0.944 T -3.37 0.666 D 0.178 0.364 -0.561 0.664 T 0.245 0.614 T . . . 4.558 0.610 24.4 0.978 0.358 0.844 0.432 D c 0.409 0.408 0.016 0.128 0.745 0.986 0 4.92 0.640 2.999 0.489 1.011 0.635 1.000 0.715 0.999 0.750 13.512 0.608 AAA+ ATPase domain|DNA recombination and repair protein RecA-like\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase;AAA+ ATPase domain|P-loop containing nucleoside triphosphate hydrolase;DNA recombination and repair protein Rad51\x2c C-terminal|DNA recombination and repair protein RecA-like\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase;DNA recombination and repair protein RecA-like\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0095 0.0033 0.0073 0.0018 0 0.0011 0.0165 0.0095 0.0033 0.0093 0.0033 0.0048 0 0.0006 0.0017 0.0157 0.0122 het 308.26 29 17 33430313 . T C 308.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.593;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.109;QD=10.63;ReadPosRankSum=-0.633;VQSLOD=11.0557;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,14:29:99:338,0,476 17 33448818 33448818 T C exonic FNDC8 nonsynonymous SNV FNDC8:NM_017559:exon1:c.T106C:p.S36P 0.84 0.87 0.84 0.91 0.68 0.9 0.7532 0.8606 0.8374 0.9028 0.6943 0.6792 0.7423 0.8715 0.74 0.86 0.68 0.81 0.75 rs1871892 COSM5001160 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.778 0.095 N 1.000 0.090 P -1.79 0.003 N 1.83 0.248 T 5.67 0.000 N 0.036 0.016 -0.988 0.332 T 0.000 0.000 T . . . 0.361 0.129 6.266 0.737 0.101 0.001 0.009 N c -1.084 -0.884 0.323 0.194 0.554 0.283 0 3.61 0.403 0.389 0.203 0.069 0.176 0.021 0.196 0.986 0.517 6.577 0.216 . ENSG00000005156.7|ENSG00000005156.7|ENSG00000005156.7|ENSG00000005156.7|ENSG00000132141.9|ENSG00000005156.7|ENSG00000132141.9 Artery_Tibial|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.7543 0.8599 0.8357 0.7382 0.8982 0.6939 0.6758 0.7336 0.8695 0.7534 0.8639 0.8193 0.7848 0.9064 0.7013 0.6829 0.7098 het 2190.34 199 17 33448818 . T C 2190.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.983;DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6685;MQ=58.86;MQ0=0;MQRankSum=1.417;QD=11.01;ReadPosRankSum=0.691;VQSLOD=5.7261;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,91:199:99:2220,0,2821 17 33454415 33454415 C A exonic FNDC8 synonymous SNV FNDC8:NM_017559:exon2:c.C564A:p.T188T 0.44 0.1 0.54 0.71 0.44 0.57 0.4577 0.1438 0.6241 0.7020 0.4820 0.4259 0.4685 0.5602 0.33 0.16 0.42 0.36 0.41 rs2306508 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4713 0.1388 0.6067 0.4054 0.7007 0.4920 0.4283 0.4724 0.5493 0.3801 0.1514 0.5805 0.4139 0.6890 0.4917 0.4379 0.4469 het 2681.42 226 17 33454415 . C A 2681.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.065;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3486;MQ=59.37;MQ0=0;MQRankSum=1.015;QD=11.86;ReadPosRankSum=0.710;VQSLOD=4.7464;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,99:226:99:2711,0,3202 17 33464864 33464864 C T exonic NLE1 nonsynonymous SNV NLE1:NM_018096:exon5:c.G506A:p.R169K 0.85 0.87 0.86 0.91 0.7 0.9 0.7800 0.8688 0.8540 0.9023 0.7397 0.7170 0.7781 0.8784 0.77 0.87 0.72 0.83 0.74 rs7215209 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.810 P . . . 1.61 0.284 T 1.11 0.012 N 0.037 0.017 -0.961 0.391 T 0.000 0.000 T . . . 1.444 0.236 13.02 0.699 0.088 0.386 0.258 N c -0.821 -0.559 0.999 0.372 0.707 0.730 0 3.95 0.448 2.326 0.433 0.119 0.209 1.000 0.715 0.992 0.562 6.497 0.212 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000005156.7|ENSG00000005156.7|ENSG00000005156.7|ENSG00000132141.9|ENSG00000005156.7|ENSG00000132141.9 Artery_Tibial|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.7816 0.8682 0.8514 0.7671 0.8977 0.7439 0.7140 0.7618 0.8781 0.7824 0.8716 0.8397 0.8146 0.9061 0.7557 0.7217 0.7485 hom 2022.32 68 17 33464864 . C T 2022.32 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7474;MQ=58.27;MQ0=0;QD=29.74;VQSLOD=8.4389;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2055,153,0 17 33495341 33495341 G A exonic UNC45B synonymous SNV UNC45B:NM_001308281:exon9:c.G1413A:p.K471K,UNC45B:NM_173167:exon9:c.G1413A:p.K471K,UNC45B:NM_001033576:exon10:c.G1413A:p.K471K,UNC45B:NM_001267052:exon10:c.G1413A:p.K471K 0.065 0.0015 0.017 0.22 0.007 0.083 0.0319 0.0039 0.0427 0.1919 0.0169 0.0077 0.0305 0.0805 0.0072 0.0048 0.0084 0.11 . rs35879240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0299 0.0030 0.0431 0.0202 0.1894 0.0184 0.0075 0.0205 0.0838 0.0171 0.0042 0.0334 0.0265 0.1576 0.0198 0.0077 0.0163 het 2377.98 207 17 33495341 . G A 2377.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.836;DP=207;Dels=0.00;FS=4.847;HRun=2;HaplotypeScore=5.1140;MQ=59.62;MQ0=0;MQRankSum=-0.364;QD=11.49;ReadPosRankSum=-1.234;VQSLOD=4.3102;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:110,97:207:99:2408,0,2923 17 33679559 33679559 G A exonic SLFN11 nonsynonymous SNV SLFN11:NM_152270:exon5:c.C2522T:p.A841V,SLFN11:NM_001104589:exon6:c.C2522T:p.A841V,SLFN11:NM_001104587:exon7:c.C2522T:p.A841V,SLFN11:NM_001104588:exon7:c.C2522T:p.A841V,SLFN11:NM_001104590:exon7:c.C2522T:p.A841V . . . . . . 0.0003 0 0.0002 0 0 0.0004 0 0.0003 0.0002 . 0.0002 . . rs376285868 . . . . . . . . . . . . . 0.005 0.632 D 0.963 0.537 D 0.574 0.482 P 0.180 0.171 N 1 0.090 N 2.63 0.772 M 4.36 0.023 T -2.84 0.598 D 0.047 0.028 -0.937 0.431 T 0.009 0.032 T 0.004 0.104 T 1.909 0.290 15.64 0.996 0.757 0.014 0.048 N c -0.601 -0.786 0.001 0.076 0.707 0.730 0 1.79 0.239 -2.978 0.007 -1.133 0.018 0.000 0.063 0.001 0.043 4.547 0.114 P-loop containing nucleoside triphosphate hydrolase . . 0.0003 0 0.0008 0.0020 0 0 0.0002 0.0002 0.0003 . . . . . . . . het 1990.34 190 17 33679559 . G A 1990.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.961;DP=190;DS;Dels=0.00;FS=4.688;HRun=0;HaplotypeScore=1.9981;MQ=59.61;MQ0=0;MQRankSum=-0.931;QD=10.48;ReadPosRankSum=-0.531;VQSLOD=3.9422;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,81:190:99:2020,0,3044 17 33689926 33689926 T C exonic SLFN11 nonsynonymous SNV SLFN11:NM_152270:exon2:c.A901G:p.N301D,SLFN11:NM_001104589:exon3:c.A901G:p.N301D,SLFN11:NM_001104587:exon4:c.A901G:p.N301D,SLFN11:NM_001104588:exon4:c.A901G:p.N301D,SLFN11:NM_001104590:exon4:c.A901G:p.N301D 0.96 0.95 0.99 0.97 0.97 0.94 0.9656 0.9429 0.9879 0.9797 0.9698 0.9665 0.9703 0.9511 0.96 0.95 0.97 0.95 0.98 rs4796077 . . . . . . . . . . . . . 0.807 0.031 T 0.0 0.026 B 0.0 0.013 B 0.112 0.194 N 1 0.090 P -1.005 0.012 N 0.12 0.611 T 1.07 0.013 N 0.014 0.002 -0.951 0.409 T 0.000 0.000 T . . . -1.795 0.011 0.002 0.174 0.005 0.002 0.010 N c -1.582 -1.538 0.807 0.243 0.707 0.730 0 1.27 0.205 -0.838 0.044 -1.565 0.009 0.000 0.063 0.001 0.043 6.646 0.220 . . . 0.9679 0.9406 0.9891 0.9848 0.9795 0.9735 0.9649 0.9690 0.9533 0.9614 0.9458 0.9797 0.9934 0.9772 0.9719 0.9641 0.9694 hom 6795.02 224 17 33689926 . T C 6795.02 Mask AC=2;AF=1.00;AN=2;DP=224;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9087;MQ=59.10;MQ0=0;QD=30.33;VQSLOD=8.7271;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:6794,515,0 17 33690466 33690466 C A exonic SLFN11 nonsynonymous SNV SLFN11:NM_152270:exon2:c.G361T:p.V121F,SLFN11:NM_001104589:exon3:c.G361T:p.V121F,SLFN11:NM_001104587:exon4:c.G361T:p.V121F,SLFN11:NM_001104588:exon4:c.G361T:p.V121F,SLFN11:NM_001104590:exon4:c.G361T:p.V121F 0.42 0.15 0.52 0.48 0.55 0.49 0.5002 0.2199 0.4888 0.4961 0.5197 0.5384 0.5 0.5242 0.44 0.23 0.55 0.35 0.47 rs12453150 . . . . . . . . . . . . . 0.12 0.279 T 0.001 0.067 B 0.002 0.063 B 0.006 0.011 N 1 0.090 P 0.205 0.094 N 4.52 0.155 T -1.65 0.395 N 0.029 0.010 -0.923 0.452 T 0.000 0.000 T . . . -1.143 0.027 0.008 0.891 0.179 0.015 0.049 N c -1.857 -1.980 1.000 0.747 0.707 0.730 0 -8.36 0.009 -1.702 0.020 -0.929 0.025 0.000 0.063 0.000 0.016 1.513 0.023 . . . 0.5044 0.2138 0.4855 0.5513 0.4877 0.5277 0.5374 0.4996 0.5279 0.4308 0.2156 0.4736 0.5199 0.5050 0.5227 0.5168 0.5184 hom 2521.40 76 17 33690466 . C A 2521.40 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9454;MQ=58.90;MQ0=0;QD=33.18;VQSLOD=9.3631;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2554,205,0 17 33749546 33749546 A G exonic SLFN12 nonsynonymous SNV SLFN12:NM_001289009:exon2:c.T502C:p.C168R,SLFN12:NM_018042:exon2:c.T502C:p.C168R 0.59 0.63 0.64 0.45 0.59 0.65 0.6029 0.6290 0.6058 0.4602 0.6691 0.5999 0.6117 0.6448 0.61 0.63 0.6 0.56 0.57 rs2586514 COSM4415750 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.422 0.098 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.805 0.203 L 3.92 0.035 T -0.87 0.236 N 0.042 0.022 -0.976 0.359 T 0.000 0.000 T . . . -1.889 0.010 0.002 0.233 0.010 0.002 0.012 N c -1.766 -1.917 0.066 0.154 0.707 0.730 0 -6.47 0.017 -0.949 0.040 -1.012 0.022 0.000 0.063 0.000 0.016 1.599 0.025 . ENSG00000154760.9|ENSG00000154760.9|ENSG00000154760.9 Artery_Tibial|Nerve_Tibial|Thyroid 0.6045 0.6281 0.6058 0.6188 0.4579 0.6699 0.5983 0.5877 0.6473 0.6141 0.6258 0.5993 0.6358 0.4419 0.6694 0.6132 0.6184 hom 1081.45 38 17 33749546 . A G 1081.45 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=28.46;VQSLOD=8.0336;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:93.25:1114,93,0 17 33749919 33749919 A C exonic SLFN12 nonsynonymous SNV SLFN12:NM_001289009:exon2:c.T129G:p.S43R,SLFN12:NM_018042:exon2:c.T129G:p.S43R 0.38 0.27 0.54 0.35 0.49 0.32 0.4524 0.3163 0.4888 0.3484 0.5927 0.4910 0.4581 0.3546 0.43 0.33 0.49 0.25 0.52 rs1849733 COSM1179770 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(prostate) . . . . . . . . . . . 0.886 0.114 T 0.035 0.192 B 0.003 0.080 B . . . 1 0.090 P 0.605 0.157 N 3.93 0.286 T -0.35 0.281 N 0.052 0.313 -0.912 0.466 T 0.000 0.000 T . . . -1.500 0.017 0.003 0.135 0.003 0.012 0.041 N c -1.516 -1.606 0.084 0.159 0.707 0.730 0 -6.41 0.018 -2.557 0.010 -2.092 0.004 0.000 0.063 0.000 0.016 3.679 0.078 . ENSG00000267547.1|ENSG00000267547.1|ENSG00000154760.9|ENSG00000154760.9|ENSG00000267547.1|ENSG00000172123.8|ENSG00000172123.8|ENSG00000154760.9|ENSG00000154760.9|ENSG00000172123.8|ENSG00000154760.9|ENSG00000154760.9|ENSG00000172716.12|ENSG00000172123.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.4600 0.3122 0.4879 0.4526 0.3504 0.5883 0.4927 0.4469 0.3579 0.4567 0.3203 0.4845 0.4533 0.3368 0.5918 0.5137 0.4928 hom 5300.40 163 17 33749919 . A C 5300.40 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=32.52;VQSLOD=9.8550;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5300,406,0 17 33998802 33998802 G C exonic AP2B1 synonymous SNV AP2B1:NM_001282:exon15:c.G2019C:p.V673V,AP2B1:NM_001030006:exon16:c.G2061C:p.V687V 0.47 0.46 0.48 0.53 0.47 0.42 0.4880 0.5033 0.5044 0.5079 0.5289 0.4894 0.4659 0.4357 0.49 0.49 0.49 0.3 0.57 rs1049379 COSM3755407 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4881 0.5040 0.5090 0.3783 0.5074 0.5235 0.4940 0.4691 0.4379 0.5106 0.5014 0.4892 0.4007 0.5286 0.5232 0.5135 0.5260 het 3056.63 223 17 33998802 . G C 3056.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.138;DP=223;DS;Dels=0.00;FS=1.797;HRun=2;HaplotypeScore=2.6203;MQ=59.14;MQ0=0;MQRankSum=0.525;QD=13.71;ReadPosRankSum=0.040;VQSLOD=5.9620;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:113,110:223:99:3087,0,3122 17 34072555 34072555 G A exonic GAS2L2 nonsynonymous SNV GAS2L2:NM_139285:exon6:c.C1961T:p.A654V 0.2 0.37 0.13 0.13 0.21 0.096 0.2109 0.3289 0.1138 0.1449 0.2390 0.2385 0.2339 0.1158 0.27 0.32 0.25 0.25 0.29 rs3744374 COSM1128751 6(prostate) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.513 N 1.000 0.090 P -1.1 0.010 N 3.16 0.077 T . . . 0.07 0.058 -0.924 0.450 T 0.000 0.000 T . . . 0.216 0.115 4.843 0.588 0.059 0.166 0.193 N c -1.061 -0.815 0.002 0.087 0.549 0.223 0 4.58 0.559 1.093 0.303 0.202 0.252 0.118 0.229 1.000 0.888 6.126 0.193 . . . 0.2073 0.3294 0.1266 0.2322 0.1396 0.2337 0.2422 0.2165 0.1180 0.2612 0.3226 0.1396 0.2252 0.1188 0.2295 0.2583 0.2260 het 2102.43 165 17 34072555 . G A 2102.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.006;DP=165;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=0.7887;MQ=59.41;MQ0=0;MQRankSum=0.290;QD=12.74;ReadPosRankSum=-1.251;VQSLOD=6.5707;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,79:165:99:2132,0,2343 17 34100350 34100350 - C exonic MMP28 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9998 1 1 0.9999 0.9998 1.0000 1 0.9991 1. 1. 1. 1. . rs58543174 COSM5713306 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 1.0000 1 0.9999 1 1.0000 1 0.9991 1 1 1 1 1 1 1 1 hom 613.84 14 17 34100350 . G GC 613.84 Mask AC=2;AF=1.00;AN=2;DP=14;FS=0.000;HRun=0;HaplotypeScore=30.1353;MQ=58.60;MQ0=0;QD=43.85;set=variant2 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:656,42,0 17 34328461 34328461 A G exonic CCL15 nonsynonymous SNV CCL15:NM_032965:exon1:c.T71C:p.I24T 0.75 0.56 0.91 0.63 0.96 0.79 0.8782 0.5686 0.9013 0.6657 0.9097 0.9589 0.9169 0.8263 0.83 0.57 0.96 0.71 0.93 rs854625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8854 0.5662 0.9025 0.9716 0.6592 0.9143 0.9590 0.9167 0.8305 0.8220 0.5782 0.8816 0.9570 0.6658 0.9067 0.9496 0.8990 hom 2371.35 79 17 34328461 . A G 2371.35 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.46;MQ0=0;QD=30.02;VQSLOD=9.0247;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2404,181,0 17 34340284 34340284 C T exonic CCL23 nonsynonymous SNV CCL23:NM_005064:exon4:c.G367A:p.V123M,CCL23:NM_145898:exon4:c.G316A:p.V106M 0.52 0.1 0.72 0.57 0.81 0.59 0.7125 0.1813 0.7631 0.5913 0.7974 0.8103 0.75 0.6436 0.61 0.2 0.81 0.46 0.71 rs1003645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7241 0.1720 0.7557 0.7938 0.5906 0.7978 0.8098 0.7547 0.6471 0.6143 0.1887 0.7374 0.7616 0.5840 0.7903 0.8042 0.7561 hom 2794.60 89 17 34340284 . C T 2794.60 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=31.40;VQSLOD=9.2194;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2828,223,0 17 34854280 34854280 G A exonic MYO19 nonsynonymous SNV MYO19:NM_025109:exon22:c.C1987T:p.L663F,MYO19:NM_001163735:exon26:c.C2587T:p.L863F 0.26 0.029 0.29 0.35 0.39 0.3 0.3462 0.0754 0.2713 0.3095 0.3626 0.4138 0.3878 0.2964 0.31 0.076 0.42 0.22 . rs2306590 COSM148250;COSM3755417;COSM4783676 1(stomach);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.007 0.147 B 0.005 0.145 B 0.032 0.251 N 1.000 0.231 P 1.86 0.494 L . . . . . . 0.057 0.049 -1.009 0.273 T 0.000 0.000 T . . . 0.726 0.163 8.994 0.987 0.451 0.424 0.266 N c -0.637 -0.523 0.437 0.204 0.707 0.730 0 1.75 0.236 1.240 0.321 0.998 0.613 0.995 0.385 0.994 0.587 9.012 0.351 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase ENSG00000005955.8|ENSG00000141140.12|ENSG00000005955.8|ENSG00000141140.12|ENSG00000005955.8|ENSG00000108272.9|ENSG00000141140.12|ENSG00000005955.8|ENSG00000108272.9|ENSG00000141140.12|ENSG00000108272.9|ENSG00000108272.9|ENSG00000108272.9|ENSG00000108272.9|ENSG00000108272.9|ENSG00000108272.9|ENSG00000108272.9|ENSG00000108278.7|ENSG00000005955.8|ENSG00000005955.8|ENSG00000108272.9|ENSG00000005955.8|ENSG00000005955.8|ENSG00000108272.9|ENSG00000108278.7|ENSG00000005955.8|ENSG00000108272.9|ENSG00000141140.12|ENSG00000141140.12|ENSG00000005955.8|ENSG00000108272.9|ENSG00000267067.1|ENSG00000141140.12|ENSG00000108272.9|ENSG00000141140.12|ENSG00000005955.8|ENSG00000108272.9|ENSG00000141140.12|ENSG00000005955.8|ENSG00000141140.12|ENSG00000005955.8|ENSG00000005955.8|ENSG00000005955.8|ENSG00000005955.8|ENSG00000108278.7|ENSG00000005955.8|ENSG00000267067.1|ENSG00000005955.8|ENSG00000141140.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3450 0.0712 0.2803 0.3590 0.3132 0.3645 0.4132 0.3633 0.2999 0.3024 0.0784 0.2897 0.3245 0.3154 0.3686 0.4108 0.3850 het 2374.31 185 17 34854280 . G A 2374.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.930;DP=185;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7295;MQ=59.11;MQ0=0;MQRankSum=0.163;QD=12.83;ReadPosRankSum=0.084;VQSLOD=6.3568;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,92:185:99:2404,0,2443 17 34862932 34862932 C T exonic MYO19 nonsynonymous SNV MYO19:NM_001163735:exon18:c.G1514A:p.R505H 0.0006 . 0.0043 . . . 0.0003 0 0.0004 0 0 0.0005 0 6.183e-05 0.0004 . 0.0006 . . rs201468610 . . . . . . . . . . . . . . . . 1.0 0.899 D 0.997 0.850 D . . . 1.000 0.810 D 2.285 0.654 M . . . . . . 0.725 0.728 0.528 0.909 D 0.754 0.916 D 0.061 0.684 D 7.032 0.939 33 1.000 1.000 0.952 0.636 D c 0.538 0.444 0.919 0.266 0.707 0.730 0 3.27 0.364 3.742 0.546 0.852 0.362 1.000 0.715 0.983 0.502 9.143 0.359 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0004 0 0.0004 0 0 0 0.0006 0.0005 3.253e-05 0.0005 0.0002 0 0 0 0 0.0009 0 het 462.92 56 17 34862932 . C T 462.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.982;DP=56;Dels=0.00;FS=2.377;HRun=0;HaplotypeScore=3.3153;MQ=58.66;MQ0=0;MQRankSum=0.474;QD=8.27;ReadPosRankSum=-1.642;VQSLOD=3.5381;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,21:56:99:493,0,941 17 34942595 34942595 G A exonic GGNBP2 synonymous SNV GGNBP2:NM_024835:exon12:c.G1608A:p.K536K 0.34 0.25 0.34 0.37 0.45 0.33 0.3920 0.2747 0.2901 0.3295 0.4001 0.4497 0.4219 0.3317 0.39 0.28 0.45 0.32 0.3 rs1106908 COSM148252 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3884 0.2669 0.3038 0.4128 0.3316 0.3998 0.4491 0.4036 0.3347 0.3816 0.2771 0.3174 0.3675 0.3286 0.4034 0.4441 0.4233 het 694.99 52 17 34942595 . G A 694.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.918;DP=52;Dels=0.00;FS=6.004;HRun=2;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=-0.331;QD=13.37;ReadPosRankSum=1.448;VQSLOD=4.9671;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,24:52:99:725,0,749 17 35609866 35609866 C T exonic ACACA synonymous SNV ACACA:NM_198837:exon13:c.G1638A:p.Q546Q,ACACA:NM_198838:exon14:c.G1578A:p.Q526Q,ACACA:NM_198834:exon15:c.G1923A:p.Q641Q,ACACA:NM_198836:exon15:c.G1812A:p.Q604Q,ACACA:NM_198839:exon19:c.G1812A:p.Q604Q 0.22 0.023 0.14 0.45 0.16 0.37 0.1769 0.0352 0.1309 0.4573 0.1855 0.1304 0.1982 0.3347 0.097 0.038 0.13 0.076 0.082 rs2229416 COSM4000114;COSM4000115 5(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1807 0.0335 0.1441 0.1330 0.4658 0.1877 0.1290 0.1593 0.3363 0.1288 0.0390 0.1718 0.1490 0.4827 0.1730 0.1271 0.1721 het 2886.04 211 17 35609866 . C T 2886.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.346;DP=211;Dels=0.00;FS=1.692;HRun=1;HaplotypeScore=1.8245;MQ=59.67;MQ0=0;MQRankSum=-0.950;QD=13.68;ReadPosRankSum=0.398;VQSLOD=6.5130;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,107:211:99:2916,0,2622 17 35696804 35696804 G A exonic ACACA synonymous SNV ACACA:NM_198834:exon2:c.C45T:p.F15F 0.59 0.26 0.52 0.69 0.81 0.72 0.7173 0.3189 0.4590 0.7016 0.7782 0.8090 0.7556 0.7429 0.65 0.33 0.8 0.54 0.63 rs58654829 COSM1742676 1(pancreas);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7043 0.3085 0.4627 0.8542 0.7052 0.7626 0.7988 0.7270 0.7350 0.6407 0.3295 0.5293 0.83 0.6909 0.7662 0.7834 0.7437 hom 2345.25 71 17 35696804 . G A 2345.25 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.6651;MQ=44.75;MQ0=0;QD=33.03;VQSLOD=3.4755;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2378,202,0 17 35743010 35743010 C G exonic C17orf78 nonsynonymous SNV C17orf78:NM_173625:exon4:c.C455G:p.T152S 0.32 0.25 0.25 0.54 0.19 0.35 0.2838 0.2795 0.3936 0.5605 0.2130 0.2129 0.2649 0.3645 0.2 0.24 0.18 0.32 . rs1714987 COSM148253 1(stomach);1(large_intestine) . . . . . . . . . . . . . . 0.015 0.158 B 0.015 0.162 B 0.350 0.138 N 1 0.090 P 1.1 0.281 L . . . . . . 0.034 0.014 -0.917 0.460 T 0.000 0.000 T . . . -0.600 0.050 0.125 0.953 0.261 0.047 0.102 N c -0.916 -0.936 0.000 0.052 0.487 0.133 0 1.87 0.244 -0.110 0.107 0.852 0.362 0.000 0.063 0.025 0.141 7.196 0.249 . ENSG00000141141.10 Cells_Transformed_fibroblasts 0.2503 0.2464 0.3262 0.1803 0.5438 0.2022 0.1802 0.2159 0.3275 0.2249 0.2456 0.2900 0.2020 0.5353 0.1995 0.1847 0.1864 het 131.17 12 17 35743010 . C G 131.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.380;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.43;MQ0=0;MQRankSum=0.689;QD=10.93;ReadPosRankSum=1.134;VQSLOD=5.9676;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,5:12:99:161,0,205 17 35771468 35771468 C T exonic TADA2A nonsynonymous SNV TADA2A:NM_001166105:exon2:c.C16T:p.P6S,TADA2A:NM_001291918:exon2:c.C16T:p.P6S,TADA2A:NM_001488:exon2:c.C16T:p.P6S,TADA2A:NM_133439:exon2:c.C16T:p.P6S 0.85 0.95 0.88 0.74 0.83 0.85 0.8597 0.9275 0.8856 0.7384 0.8736 0.8596 0.8513 0.8576 0.88 0.93 0.86 0.88 0.9 rs7211875 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8576 0.9286 0.8811 0.8833 0.7398 0.8693 0.8549 0.8594 0.8557 0.8723 0.9319 0.8699 0.8775 0.7388 0.8692 0.8533 0.8622 het 2842.44 207 17 35771468 . C T 2842.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.004;DP=207;Dels=0.00;FS=1.725;HRun=1;HaplotypeScore=5.6246;MQ=59.12;MQ0=0;MQRankSum=1.676;QD=13.73;ReadPosRankSum=-1.137;VQSLOD=4.8667;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,111:207:99:2872,0,2499 17 35902225 35902225 C G exonic SYNRG synonymous SNV SYNRG:NM_001163547:exon13:c.G2433C:p.P811P,SYNRG:NM_001163544:exon14:c.G2817C:p.P939P,SYNRG:NM_001163545:exon14:c.G2814C:p.P938P,SYNRG:NM_001163546:exon14:c.G2682C:p.P894P,SYNRG:NM_080550:exon14:c.G2817C:p.P939P,SYNRG:NM_198882:exon14:c.G2817C:p.P939P,SYNRG:NM_007247:exon15:c.G3051C:p.P1017P 0.54 0.62 0.38 0.65 0.4 0.57 0.4297 0.5723 0.3717 0.6667 0.3794 0.3630 0.4703 0.5445 0.42 0.55 0.36 0.55 0.43 rs3110623 COSM4000116 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4268 0.5684 0.3703 0.4062 0.6623 0.3918 0.3638 0.4258 0.5461 0.4403 0.5541 0.3923 0.45 0.6665 0.3878 0.3669 0.4053 hom 4262.48 138 17 35902225 . C G 4262.48 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.8667;MQ=59.12;MQ0=0;QD=30.89;VQSLOD=8.4140;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:138:99:4262,325,0 17 35937637 35937637 T C exonic SYNRG nonsynonymous SNV SYNRG:NM_007247:exon7:c.A664G:p.T222A 0.17 0.088 0.22 0.14 0.21 0.24 0.1759 0.1041 0.1995 0.1270 0.1746 0.1767 0.2214 0.2247 0.15 0.1 0.18 0.12 0.15 rs12602536 COSM1128746 3(haematopoietic_and_lymphoid_tissue);3(prostate);1(large_intestine) . . . . . . . . . . . . . . 0.587 0.371 P 0.151 0.326 B 0.010 0.301 N 0.807 0.588 P 0.77 0.194 N . . . . . . 0.039 0.019 -1.003 0.292 T 0.000 0.000 T . . . 0.294 0.122 5.640 0.976 0.343 0.813 0.404 D c -0.441 -0.319 0.000 0.056 0.707 0.730 0 1.97 0.252 0.426 0.209 0.913 0.425 0.997 0.399 0.971 0.463 4.795 0.126 . ENSG00000141141.10|ENSG00000141141.10|ENSG00000141141.10 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis 0.1805 0.1028 0.2016 0.2130 0.1288 0.1742 0.1779 0.1991 0.2254 0.1564 0.0977 0.2224 0.2233 0.1279 0.1747 0.1810 0.2082 het 2482.04 218 17 35937637 . T C 2482.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.803;DP=218;DS;Dels=0.00;FS=3.299;HRun=0;HaplotypeScore=11.0486;MQ=59.09;MQ0=0;MQRankSum=-0.898;QD=11.39;ReadPosRankSum=0.414;VQSLOD=3.6225;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,94:218:99:2512,0,3205 17 35984410 35984410 T C exonic DDX52 nonsynonymous SNV DDX52:NM_007010:exon9:c.A1207G:p.M403V,DDX52:NM_001291476:exon10:c.A883G:p.M295V 0.57 0.4 0.72 0.56 0.76 0.53 0.7145 0.4681 0.7553 0.5662 0.7590 0.7976 0.6509 0.5678 0.7 0.49 0.8 0.54 0.8 rs7216445 COSM5480071 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7182 0.4660 0.7538 0.7447 0.5609 0.7531 0.7995 0.7147 0.5631 0.6852 0.4865 0.7273 0.7351 0.5553 0.7547 0.7935 0.7112 het 1383.68 103 17 35984410 . T C 1383.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.523;DP=103;Dels=0.00;FS=2.595;HRun=0;HaplotypeScore=2.9870;MQ=59.55;MQ0=0;MQRankSum=-0.090;QD=13.43;ReadPosRankSum=-0.529;VQSLOD=6.4365;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,58:103:99:1414,0,1166 17 35988672 35988672 C T exonic DDX52 synonymous SNV DDX52:NM_007010:exon6:c.G792A:p.R264R,DDX52:NM_001291476:exon7:c.G468A:p.R156R 0.57 0.4 0.71 0.55 0.75 0.52 0.7049 0.4598 0.7434 0.5633 0.7584 0.7887 0.6300 0.5499 0.69 0.48 0.79 0.53 0.81 rs7224513 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7078 0.4559 0.7418 0.7050 0.5577 0.7531 0.7916 0.6952 0.5408 0.6786 0.4742 0.7193 0.6921 0.5540 0.7556 0.7893 0.6951 het 1106.46 101 17 35988672 . C T 1106.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.172;DP=101;Dels=0.00;FS=0.758;HRun=1;HaplotypeScore=2.5981;MQ=58.23;MQ0=0;MQRankSum=-0.330;QD=10.96;ReadPosRankSum=-0.031;VQSLOD=5.7314;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,48:101:99:1136,0,1299 17 36861983 36861983 T C exonic MLLT6 nonsynonymous SNV MLLT6:NM_005937:exon1:c.T98C:p.V33A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . . 0.81 rs17855918 COSM4129924 1(thyroid);17(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 991.77 35 17 36861983 . T C 991.77 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=28.34;VQSLOD=7.1109;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:81.24:1025,81,0 17 36894839 36894839 G A exonic PCGF2 synonymous SNV PCGF2:NM_007144:exon8:c.C435T:p.D145D 0.43 0.51 0.42 0.28 0.43 0.51 0.4423 0.5198 0.3469 0.3012 0.4525 0.4553 0.4351 0.4958 0.48 0.52 0.46 0.42 0.38 rs1138349 COSM3755439 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 0.421 0.134 6.791 0.947 0.247 0.097 0.152 N n 0.560 1.351 1.000 0.747 0.722 0.854 0 -5.64 0.023 -3.468 0.005 -4.500 0.000 0.002 0.151 0.480 0.267 0.432 0.004 . . . 0.4366 0.5180 0.3598 0.3908 0.2915 0.4742 0.4580 0.4460 0.4730 0.4591 0.5086 0.3854 0.3013 0.2749 0.4744 0.4560 0.4252 het 1416.28 120 17 36894839 . G A 1416.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.941;DP=120;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2508;MQ=59.50;MQ0=0;MQRankSum=0.663;QD=11.80;ReadPosRankSum=0.117;VQSLOD=5.3290;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,57:120:99:1446,0,1730 17 37070658 37070658 A G exonic LASP1 synonymous SNV LASP1:NM_001271608:exon4:c.A270G:p.S90S,LASP1:NM_006148:exon5:c.A438G:p.S146S 0.68 0.92 0.55 0.59 0.65 0.56 0.6445 0.8786 0.4587 0.6138 0.5930 0.6603 0.6682 0.6007 0.73 0.86 0.66 0.7 0.51 rs525989 COSM436474 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6319 0.8842 0.4763 0.7285 0.6195 0.5842 0.6565 0.6398 0.5978 0.6924 0.8699 0.5549 0.7086 0.6617 0.5695 0.6325 0.6258 het 269.68 27 17 37070658 . A G 269.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.062;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=0.510;QD=9.99;ReadPosRankSum=1.868;VQSLOD=6.1327;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,13:27:99:300,0,381 17 37101380 37101380 T C exonic FBXO47 nonsynonymous SNV FBXO47:NM_001008777:exon7:c.A626G:p.Q209R 0.97 1. 0.94 1. 0.92 0.99 0.9505 0.9878 0.9576 0.9999 0.9613 0.9276 0.9361 0.9848 0.94 0.98 0.92 0.97 0.87 rs9906595 . . . . . . . Obesity-related traits . .03 23251661 rs9906595 4E-6 0.796 0.031 T 0.0 0.026 B 0.0 0.013 B 0.004 0.340 N 1.000 0.090 P -1.995 0.002 N -0.32 0.682 T 0.67 0.023 N 0.03 0.011 -0.965 0.382 T 0.000 0.000 T . . . 1.038 0.194 10.88 0.666 0.079 0.020 0.060 N c -0.921 -0.651 0.000 0.038 0.487 0.133 0 3.53 0.394 2.096 0.411 -0.013 0.131 0.993 0.376 0.995 0.604 8.182 0.303 . ENSG00000265784.1|ENSG00000263874.1|ENSG00000263874.1|ENSG00000263874.1|ENSG00000214553.5|ENSG00000214553.5|ENSG00000266588.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Esophagus_Muscularis|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.9497 0.9883 0.9580 0.9389 0.9999 0.9615 0.9231 0.9434 0.9853 0.9557 0.9841 0.9605 0.9570 1 0.9619 0.9328 0.9531 het 1270.77 103 17 37101380 . T C 1270.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.114;DP=103;Dels=0.00;FS=3.895;HRun=0;HaplotypeScore=0.9987;MQ=58.78;MQ0=0;MQRankSum=-1.079;QD=12.34;ReadPosRankSum=0.564;VQSLOD=5.6638;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,53:103:99:1301,0,1300 17 37224211 37224211 C T exonic PLXDC1 nonsynonymous SNV PLXDC1:NM_020405:exon14:c.G1385A:p.R462H 0.071 0.018 0.11 0.13 0.075 0.046 0.0759 0.0227 0.1176 0.1411 0.0581 0.0801 0.0776 0.0360 0.058 0.026 0.074 0.11 0.041 rs75117355 COSM3755441 1(oesophagus);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.011 0.555 D 1.0 0.899 D 0.994 0.807 D 0.004 0.348 N 0.000 0.810 P 2.82 0.824 M 1.74 0.263 T -1.91 0.444 N 0.291 0.486 -1.194 0.002 T 0.002 0.006 T . . . 7.391 0.950 34 0.999 0.998 0.962 0.678 D c 0.670 0.641 1.000 0.747 0.706 0.609 0 5.27 0.737 4.216 0.581 0.935 0.490 1.000 0.715 0.987 0.523 15.959 0.796 . ENSG00000263874.1|ENSG00000266588.1|ENSG00000214553.5|ENSG00000214553.5|ENSG00000266588.1 Esophagus_Muscularis|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.0787 0.0207 0.1181 0.1302 0.1417 0.0574 0.0761 0.0876 0.0359 0.0593 0.0192 0.1220 0.1589 0.1652 0.0596 0.0653 0.0644 het 1237.98 88 17 37224211 . C T 1237.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.606;DP=88;Dels=0.00;FS=5.228;HRun=0;HaplotypeScore=3.9902;MQ=58.67;MQ0=0;MQRankSum=-0.167;QD=14.07;ReadPosRankSum=-1.444;VQSLOD=4.4992;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,45:88:99:1268,0,1096 17 37243927 37243927 A G exonic PLXDC1 synonymous SNV PLXDC1:NM_020405:exon8:c.T840C:p.Y280Y 0.29 0.11 0.45 0.35 0.3 0.36 0.3175 0.1468 0.5704 0.3348 0.2374 0.2981 0.3090 0.3486 0.24 0.14 0.29 0.17 0.3 rs12602945 COSM1162592 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3261 0.1423 0.5555 0.3350 0.3325 0.2264 0.2945 0.3236 0.3483 0.2457 0.1425 0.4952 0.2947 0.3313 0.2214 0.2861 0.2668 het 940.30 74 17 37243927 . A G 940.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.683;DP=74;Dels=0.00;FS=2.002;HRun=1;HaplotypeScore=2.8086;MQ=58.99;MQ0=0;MQRankSum=0.259;QD=12.71;ReadPosRankSum=0.359;VQSLOD=6.6065;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,38:74:99:970,0,871 17 37822311 37822311 A C exonic TCAP synonymous SNV TCAP:NM_003673:exon2:c.A453C:p.A151A 0.55 0.42 0.56 0.42 0.72 0.68 0.6706 0.4368 0.6277 0.3983 0.7367 0.7255 0.6914 0.7399 0.62 0.43 0.71 0.56 0.57 rs1053651 COSM436493 1(haematopoietic_and_lymphoid_tissue);2(urinary_tract);1(oesophagus);2(thyroid);1(large_intestine) Benign\x2cBenign|Benign|Likely benign|Likely benign|Likely benign not_specified\x2cnot_specified|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Dominant|Limb-Girdle_Muscular_Dystrophy\x2c_Recessive RCV000154431.1\x2cRCV000037796.10|RCV000251363.1|RCV000299362.1|RCV000337974.1|RCV000395204.1 MedGen\x2cMedGen|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen CN169374\x2cCN169374|CN230736|HP:0001639:C0007194:ORPHA217569|CN239310|CN239352 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6698 0.4320 0.6214 0.7057 0.3877 0.7411 0.7262 0.6823 0.7424 0.6111 0.4325 0.6089 0.6457 0.3652 0.7456 0.7038 0.7004 het 1692.89 144 17 37822311 . A C 1692.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.836;DP=144;Dels=0.00;FS=2.184;HRun=1;HaplotypeScore=0.9947;MQ=58.56;MQ0=0;MQRankSum=-0.349;QD=11.76;ReadPosRankSum=1.749;VQSLOD=5.6356;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,62:144:99:1723,0,2060 17 37884037 37884037 C G exonic ERBB2 nonsynonymous SNV ERBB2:NM_004448:exon27:c.C3508G:p.P1170A,ERBB2:NM_001005862:exon30:c.C3418G:p.P1140A,ERBB2:NM_001289936:exon31:c.C3463G:p.P1155A 0.45 0.19 0.48 0.4 0.67 0.61 0.6070 0.2308 0.5699 0.3758 0.6763 0.6733 0.6637 0.6910 0.51 0.23 0.66 0.47 0.59 rs1058808 COSM5436893;COSM5436892 2(oesophagus);1(biliary_tract) not provided not_specified RCV000120753.1 MedGen CN169374 . . . . . . 0.03 0.453 D 0.941 0.523 P 0.607 0.492 P . . . 0.001 0.810 P 0.695 0.181 N -0.81 0.740 T -2.31 0.513 N 0.107 0.317 -0.881 0.497 T 0.000 0.000 T . . . 4.041 0.543 23.7 0.997 0.815 0.944 0.608 D c 0.423 0.445 1.000 0.747 0.722 0.854 0 5.04 0.672 4.287 0.586 0.934 0.450 1.000 0.715 0.999 0.750 18.007 0.891 . ENSG00000264968.1|ENSG00000161395.8|ENSG00000161395.8|ENSG00000161395.8|ENSG00000161395.8|ENSG00000172057.5|ENSG00000161395.8|ENSG00000131771.9|ENSG00000161395.8|ENSG00000161395.8|ENSG00000141744.3|ENSG00000161395.8|ENSG00000161395.8|ENSG00000161395.8|ENSG00000172057.5|ENSG00000161395.8|ENSG00000141736.9|ENSG00000161395.8|ENSG00000161395.8|ENSG00000161395.8|ENSG00000141736.9|ENSG00000161395.8|ENSG00000161395.8|ENSG00000073605.14|ENSG00000161395.8|ENSG00000172057.5|ENSG00000073605.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Thyroid|Whole_Blood|Whole_Blood 0.6118 0.2188 0.5717 0.6897 0.3660 0.6830 0.6730 0.6170 0.6904 0.5139 0.2211 0.5589 0.6358 0.3504 0.6785 0.6507 0.6357 het 335.73 35 17 37884037 . C G 335.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.017;DP=35;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.650;QD=9.59;ReadPosRankSum=1.383;VQSLOD=5.8752;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,15:35:99:366,0,534 17 37898543 37898543 T C exonic GRB7 nonsynonymous SNV GRB7:NM_001242442:exon2:c.T58C:p.C20R 1. 0.99 1. 1. 1. 1. 0.9994 0.9953 0.9992 1 1 0.9999 1 0.9993 1. 0.99 1. 0.99 1. rs2952142 . . . . . . . . . . . . . 0.215 0.193 T . . . . . . . . . 1 0.090 P . . . 1.66 0.275 T 0.11 0.057 N 0.01 0.002 -1.011 0.266 T 0.000 0.000 T . . . -0.490 0.056 0.233 0.282 0.014 0.000 0.003 N c -0.960 -1.103 1.000 0.458 0.672 0.522 0 1.11 0.195 -0.487 0.065 -1.511 0.010 0.000 0.063 0.000 0.016 6.448 0.210 . . . 0.9995 0.9952 0.9992 1 0.9999 1 0.9999 0.9991 0.9994 0.9986 0.9950 1 1 1 1 1 1 hom 7495.44 245 17 37898543 . T C 7495.44 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3520;MQ=59.17;MQ0=0;QD=30.59;VQSLOD=7.3810;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:7494,641,0 17 37922259 37922259 G A exonic IKZF3 synonymous SNV IKZF3:NM_001284516:exon3:c.C573T:p.S191S,IKZF3:NM_001257413:exon4:c.C651T:p.S217S,IKZF3:NM_001257412:exon5:c.C768T:p.S256S,IKZF3:NM_001257414:exon5:c.C912T:p.S304S,IKZF3:NM_001257409:exon6:c.C1095T:p.S365S,IKZF3:NM_001257411:exon6:c.C885T:p.S295S,IKZF3:NM_183231:exon6:c.C1029T:p.S343S,IKZF3:NM_183232:exon6:c.C1080T:p.S360S,IKZF3:NM_001257408:exon7:c.C1212T:p.S404S,IKZF3:NM_001257410:exon7:c.C1053T:p.S351S,IKZF3:NM_183228:exon7:c.C1146T:p.S382S,IKZF3:NM_183229:exon7:c.C1197T:p.S399S,IKZF3:NM_183230:exon7:c.C1197T:p.S399S,IKZF3:NM_001284515:exon8:c.C573T:p.S191S,IKZF3:NM_012481:exon8:c.C1314T:p.S438S,IKZF3:NM_001284514:exon9:c.C573T:p.S191S 0.3 0.14 0.34 0.29 0.47 0.31 0.4006 0.1617 0.3059 0.2749 0.5392 0.4646 0.4703 0.3649 0.36 0.17 0.45 0.28 0.37 rs907092 COSM148259 1(stomach);1(haematopoietic_and_lymphoid_tissue);16(soft_tissue);1(oesophagus) . . . . . Primary biliary cirrhosis 1.29 . 19458352 rs907092 8E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4077 0.1564 0.3235 0.4497 0.2687 0.5466 0.4679 0.4196 0.3680 0.3636 0.1609 0.3258 0.4367 0.2673 0.5341 0.4462 0.4663 het 2511.38 209 17 37922259 . G A 2511.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.596;DP=209;Dels=0.00;FS=6.885;HRun=0;HaplotypeScore=3.1908;MQ=59.34;MQ0=0;MQRankSum=1.421;QD=12.02;ReadPosRankSum=-0.197;VQSLOD=4.9546;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:117,92:209:99:2541,0,3148 17 38024626 38024626 C T exonic ZPBP2 synonymous SNV ZPBP2:NM_198844:exon1:c.C19T:p.L7L,ZPBP2:NM_199321:exon1:c.C19T:p.L7L 0.29 0.12 0.34 0.28 0.47 0.31 0.3960 0.1487 0.3123 0.2545 0.5271 0.4608 0.4767 0.3647 0.35 0.15 0.45 0.28 0.33 rs11557466 COSM4129949 1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4018 0.1412 0.3303 0.4274 0.2518 0.5324 0.4656 0.4224 0.3675 0.3572 0.1487 0.3258 0.4233 0.2628 0.5218 0.4445 0.4548 het 1693.56 121 17 38024626 . C T 1693.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.375;DP=121;Dels=0.00;FS=8.668;HRun=1;HaplotypeScore=6.3461;MQ=59.46;MQ0=0;MQRankSum=0.601;QD=14.00;ReadPosRankSum=0.076;VQSLOD=3.9100;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,62:121:99:1724,0,1534 17 38028634 38028634 G T exonic ZPBP2 nonsynonymous SNV ZPBP2:NM_198844:exon4:c.G452T:p.S151I,ZPBP2:NM_199321:exon5:c.G518T:p.S173I 0.38 0.39 0.39 0.28 0.51 0.33 0.4459 0.3828 0.3430 0.2589 0.5644 0.5008 0.5011 0.3832 0.43 0.33 0.49 0.3 0.51 rs11557467 COSM5000471 1(pancreas) . . . . . . . . . . . 0.041 0.419 D 0.004 0.307 B 0.001 0.380 B 0.005 0.337 N 1.000 0.256 P 0.345 0.112 N 0.57 0.544 T -2.89 0.606 D 0.092 0.377 -0.920 0.456 T 0.000 0.000 T . . . 1.537 0.247 13.51 0.909 0.196 0.510 0.285 D c -0.469 -0.311 0.999 0.378 0.560 0.301 0 4.4 0.522 2.452 0.444 0.121 0.210 0.961 0.334 0.712 0.312 8.372 0.314 . ENSG00000264968.1|ENSG00000161395.8|ENSG00000167914.6|ENSG00000167914.6|ENSG00000264968.1|ENSG00000167914.6|ENSG00000167914.6|ENSG00000172057.5|ENSG00000073605.14|ENSG00000073605.14|ENSG00000073605.14|ENSG00000073605.14|ENSG00000161395.8|ENSG00000131771.9|ENSG00000172057.5|ENSG00000167914.6|ENSG00000073605.14|ENSG00000264968.1|ENSG00000264968.1|ENSG00000161395.8|ENSG00000161395.8|ENSG00000172057.5|ENSG00000073605.14|ENSG00000073605.14|ENSG00000186075.8|ENSG00000264968.1|ENSG00000161395.8|ENSG00000167914.6|ENSG00000172057.5|ENSG00000073605.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4487 0.3866 0.3619 0.4445 0.2536 0.5740 0.5058 0.4576 0.3858 0.4585 0.3995 0.3714 0.45 0.2639 0.5610 0.4928 0.4918 het 1248.06 71 17 38028634 . G T 1248.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.346;DP=71;Dels=0.00;FS=2.243;HRun=1;HaplotypeScore=3.7841;MQ=59.15;MQ0=0;MQRankSum=1.226;QD=17.58;ReadPosRankSum=-0.748;VQSLOD=5.1517;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,46:71:99:1278,0,555 17 38031674 38031674 C T exonic ZPBP2 synonymous SNV ZPBP2:NM_198844:exon6:c.C810T:p.C270C,ZPBP2:NM_199321:exon7:c.C876T:p.C292C 0.29 0.11 0.34 0.28 0.47 0.31 0.3957 0.1441 0.3116 0.2569 0.5261 0.4605 0.4734 0.3672 0.35 0.15 0.45 0.27 0.36 rs10852935 COSM148260 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4029 0.1361 0.3294 0.4267 0.2510 0.5344 0.4638 0.4213 0.3677 0.3568 0.1425 0.3258 0.4238 0.2651 0.5226 0.4464 0.4571 het 530.61 55 17 38031674 . C T 530.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.073;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=-0.333;QD=9.65;ReadPosRankSum=-0.316;VQSLOD=6.0944;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,23:55:99:561,0,809 17 38062217 38062217 C T exonic GSDMB nonsynonymous SNV GSDMB:NM_018530:exon6:c.G844A:p.G282R,GSDMB:NM_001042471:exon8:c.G871A:p.G291R,GSDMB:NM_001165959:exon8:c.G883A:p.G295R,GSDMB:NM_001165958:exon9:c.G910A:p.G304R 0.31 0.14 0.36 0.28 0.5 0.34 0.4222 0.1783 0.3321 0.2586 0.5525 0.4931 0.4945 0.3824 0.38 0.18 0.48 0.25 0.46 rs2305479 COSM3927730;COSM148262 1(stomach);5(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.129 0.351 T 1.0 0.899 D 0.995 0.916 D 0.849 0.070 N 1 0.090 P 2.05 0.567 M 1.92 0.231 T -5.27 0.861 D 0.031 0.016 -0.969 0.374 T 0.000 0.000 T . . . 3.505 0.479 23.1 0.948 0.250 0.040 0.094 N c -1.152 -1.364 0.249 0.187 0.706 0.609 0 -2.46 0.061 0.115 0.153 -1.627 0.009 0.001 0.137 0.000 0.016 5.321 0.151 . ENSG00000264968.1|ENSG00000167914.6|ENSG00000167914.6|ENSG00000264968.1|ENSG00000167914.6|ENSG00000167914.6|ENSG00000172057.5|ENSG00000073605.14|ENSG00000172057.5|ENSG00000073605.14|ENSG00000073605.14|ENSG00000073605.14|ENSG00000161395.8|ENSG00000161395.8|ENSG00000161395.8|ENSG00000172057.5|ENSG00000167914.6|ENSG00000073605.14|ENSG00000264968.1|ENSG00000264968.1|ENSG00000167914.6|ENSG00000161395.8|ENSG00000161395.8|ENSG00000172057.5|ENSG00000073605.14|ENSG00000186075.8|ENSG00000264968.1|ENSG00000161395.8|ENSG00000167914.6|ENSG00000172057.5|ENSG00000073605.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4289 0.1725 0.3514 0.4421 0.2536 0.5606 0.4983 0.4460 0.3855 0.3922 0.1810 0.3609 0.4470 0.2597 0.5522 0.4868 0.4857 het 1185.16 84 17 38062217 . C T 1185.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.738;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7480;MQ=59.73;MQ0=0;MQRankSum=-0.645;QD=14.11;ReadPosRankSum=-0.135;VQSLOD=6.4486;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,41:84:99:1215,0,1060 17 38121993 38121993 G A exonic GSDMA nonsynonymous SNV GSDMA:NM_178171:exon2:c.G53A:p.R18Q 0.43 0.26 0.5 0.54 0.45 0.48 0.4824 0.3329 0.6162 0.5768 0.4365 0.4731 0.4375 0.4803 0.4 0.29 0.46 0.4 . rs3894194 COSM3755448;COSM3755449 1(large_intestine) . . . . . Asthma 1.17 . 20860503 rs3894194 5E-9 0.186 0.214 T 0.016 0.161 B 0.01 0.139 B 0.489 0.121 N 0.941 0.268 P 0.895 0.225 L 1.94 0.227 T -0.99 0.262 N 0.314 0.375 -0.939 0.427 T 0.000 0.000 T . . . 2.802 0.398 21.4 0.983 0.396 0.158 0.189 N c -0.419 -0.307 0.001 0.074 0.487 0.133 0 3.34 0.372 1.008 0.293 1.048 0.713 0.403 0.260 1.000 0.888 7.603 0.271 . ENSG00000264968.1|ENSG00000008838.13|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000008838.13|ENSG00000167914.6|ENSG00000167914.6|ENSG00000172057.5|ENSG00000008838.13|ENSG00000167914.6|ENSG00000073605.14|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000073605.14|ENSG00000167914.6|ENSG00000167914.6|ENSG00000131771.9|ENSG00000167914.6|ENSG00000172057.5|ENSG00000167914.6|ENSG00000264968.1|ENSG00000167914.6|ENSG00000008838.13|ENSG00000167914.6|ENSG00000073605.14|ENSG00000167914.6|ENSG00000186075.8|ENSG00000008838.13|ENSG00000161395.8|ENSG00000167914.6|ENSG00000172057.5|ENSG00000073605.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4567 0.2898 0.5719 0.3904 0.5613 0.3900 0.4487 0.4499 0.4541 0.4122 0.3027 0.5540 0.3867 0.5679 0.3960 0.4548 0.4251 het 376.91 31 17 38121993 . G A 376.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.024;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9016;MQ=56.71;MQ0=0;MQRankSum=-0.731;QD=12.16;ReadPosRankSum=2.036;VQSLOD=3.3602;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,16:31:99:407,0,388 17 38122680 38122680 G T exonic GSDMA nonsynonymous SNV GSDMA:NM_178171:exon3:c.G382T:p.V128L . . . . . . 0.5269 0.8186 0.3185 0.5003 0.6094 0.5129 0.5605 0.5348 0.6 0.81 0.5 0.67 . rs7212938 COSM3755450;COSM3755451 18(soft_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.007 0.314 N 1 0.090 P -2.175 0.001 N 3.01 0.091 T 2.13 0.004 N 0.23 0.282 -1.033 0.195 T 0.000 0.000 T . . . -0.068 0.087 1.984 0.903 0.190 0.001 0.007 N c -1.682 -1.544 0.000 0.060 0.500 0.196 0 -2.32 0.063 -0.604 0.057 0.105 0.201 0.010 0.182 0.922 0.397 2.818 0.051 . ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000008838.13|ENSG00000167914.6|ENSG00000167914.6|ENSG00000172057.5|ENSG00000008838.13|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000172057.5|ENSG00000167914.6|ENSG00000167914.6|ENSG00000008838.13|ENSG00000167914.6|ENSG00000167914.6|ENSG00000186075.8|ENSG00000008838.13|ENSG00000161395.8|ENSG00000167914.6|ENSG00000172057.5|ENSG00000073605.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5235 0.8283 0.3463 0.5961 0.5043 0.6177 0.5076 0.5283 0.5273 0.6081 0.8198 0.3616 0.6093 0.4981 0.6173 0.5110 0.5615 het 1007.12 90 17 38122680 . G T 1007.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9657;MQ=58.69;MQ0=0;MQRankSum=1.156;QD=11.19;ReadPosRankSum=0.766;VQSLOD=6.3253;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,41:90:99:1037,0,1290 17 38122686 38122686 G A exonic GSDMA nonsynonymous SNV GSDMA:NM_178171:exon3:c.G388A:p.E130K 0.32 0.34 0.28 0.38 0.33 0.24 0.3264 0.3545 0.2275 0.3767 0.3324 0.3385 0.3555 0.2992 0.33 0.34 0.33 0.42 . rs7212944 COSM3755453;COSM3755452 1(large_intestine) . . . . . . . . . . . 0.537 0.069 T 0.037 0.195 B 0.062 0.255 B 0.958 0.077 N 0.999 0.217 P 1.24 0.311 L 2.03 0.210 T -0.26 0.112 N 0.175 0.213 -0.914 0.464 T 0.000 0.000 T . . . 3.309 0.456 22.9 0.963 0.287 0.612 0.312 D c -0.652 -0.514 0.000 0.068 0.500 0.196 0 2.99 0.335 2.721 0.467 0.980 0.597 1.000 0.715 0.787 0.332 7.407 0.260 . ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000008838.13|ENSG00000167914.6|ENSG00000167914.6|ENSG00000167914.6|ENSG00000172057.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Thyroid|Whole_Blood 0.3270 0.3534 0.2501 0.3874 0.3856 0.3348 0.3383 0.3474 0.2885 0.3358 0.3530 0.2530 0.3974 0.3739 0.3300 0.3253 0.3543 het 1036.75 84 17 38122686 . G A 1036.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.114;DP=84;Dels=0.00;FS=1.022;HRun=1;HaplotypeScore=0.9992;MQ=58.87;MQ0=0;MQRankSum=-0.050;QD=12.34;ReadPosRankSum=0.278;VQSLOD=6.2993;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,42:84:99:1067,0,1186 17 38146154 38146154 T C exonic PSMD3 synonymous SNV PSMD3:NM_002809:exon5:c.T849C:p.N283N 0.17 0.38 0.14 0.0069 0.17 0.073 0.1478 0.3485 0.0829 0.0088 0.1483 0.1642 0.1159 0.0745 0.22 0.34 0.16 0.24 0.2 rs9916279 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1396 0.3558 0.0869 0.1195 0.0074 0.1523 0.1635 0.1402 0.0739 0.2037 0.3483 0.0919 0.1225 0.0037 0.1468 0.1665 0.1398 het 1357.60 97 17 38146154 . T C 1357.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.969;DP=97;Dels=0.00;FS=0.864;HRun=0;HaplotypeScore=0.9933;MQ=59.62;MQ0=0;MQRankSum=-1.282;QD=14.00;ReadPosRankSum=-0.185;VQSLOD=6.3046;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,54:97:99:1388,0,1022 17 38173143 38173143 G A exonic CSF3 synonymous SNV CSF3:NM_001178147:exon4:c.G438A:p.L146L,CSF3:NM_172220:exon4:c.G447A:p.L149L,CSF3:NM_000759:exon5:c.G555A:p.L185L,CSF3:NM_172219:exon5:c.G546A:p.L182L 0.31 0.051 0.41 0.43 0.37 0.43 0.3816 0.0956 0.5164 0.4129 0.3360 0.3807 0.4085 0.4708 0.28 0.098 0.37 0.32 0.32 rs25645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3915 0.0860 0.5024 0.4288 0.4160 0.3355 0.3810 0.4099 0.4724 0.2911 0.0946 0.4628 0.4437 0.4291 0.3265 0.3631 0.3971 het 880.62 55 17 38173143 . G A 880.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.461;DP=55;Dels=0.00;FS=1.158;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.026;QD=16.01;ReadPosRankSum=1.036;VQSLOD=6.1428;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,31:55:99:911,0,753 17 38175866 38175866 G A exonic MED24 synonymous SNV MED24:NM_001079518:exon25:c.C2847T:p.S949S,MED24:NM_001267797:exon25:c.C2847T:p.S949S,MED24:NM_014815:exon26:c.C2886T:p.S962S,MED24:NM_001330211:exon27:c.C2943T:p.S981S 0.11 0.18 0.12 0.006 0.16 0.072 0.1342 0.1824 0.0747 0.0083 0.1466 0.1643 0.1133 0.0812 0.17 0.18 0.16 0.15 0.15 rs11555254 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1269 0.1833 0.0779 0.1145 0.0081 0.1508 0.1628 0.1327 0.0737 0.1547 0.1808 0.0742 0.1225 0.0043 0.1444 0.1650 0.1296 het 1685.59 141 17 38175866 . G A 1685.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.840;DP=141;Dels=0.00;FS=2.171;HRun=0;HaplotypeScore=4.4112;MQ=59.24;MQ0=0;MQRankSum=-0.420;QD=11.95;ReadPosRankSum=0.432;VQSLOD=5.8139;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,68:141:99:1716,0,2029 17 38179492 38179492 A G exonic MED24 synonymous SNV MED24:NM_001079518:exon19:c.T2103C:p.I701I,MED24:NM_001267797:exon19:c.T2103C:p.I701I,MED24:NM_014815:exon20:c.T2142C:p.I714I,MED24:NM_001330211:exon21:c.T2199C:p.I733I 0.31 0.054 0.41 0.42 0.37 0.43 0.3820 0.1000 0.5151 0.4088 0.3349 0.3802 0.4042 0.4770 0.28 0.1 0.38 0.33 0.34 rs2302777 COSM3755458;COSM3755459 1(large_intestine) . . . . . Multiple myeloma (hyperdiploidy) 0.76 . 23502783 rs2302777 8E-7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3932 0.0925 0.5020 0.4292 0.4129 0.3371 0.3817 0.4111 0.4805 0.2935 0.0989 0.4582 0.44 0.4294 0.3277 0.3650 0.4027 het 594.71 65 17 38179492 . A G 594.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.947;DP=65;Dels=0.00;FS=7.538;HRun=0;HaplotypeScore=1.7825;MQ=59.65;MQ0=0;MQRankSum=-0.638;QD=9.15;ReadPosRankSum=-0.877;VQSLOD=4.3114;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,21:65:99:625,0,1141 17 38186106 38186106 C T exonic MED24 synonymous SNV MED24:NM_001079518:exon12:c.G1122A:p.A374A,MED24:NM_001267797:exon12:c.G1122A:p.A374A,MED24:NM_014815:exon13:c.G1161A:p.A387A,MED24:NM_001330211:exon14:c.G1218A:p.A406A 0.11 0.16 0.12 0.006 0.16 0.072 0.1295 0.1640 0.0748 0.0097 0.1479 0.1615 0.1112 0.0733 0.16 0.17 0.16 0.14 0.16 rs11555255 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1247 0.1660 0.0768 0.1107 0.0080 0.1506 0.1616 0.1314 0.0729 0.1500 0.1649 0.0743 0.1093 0.0043 0.1440 0.1647 0.1303 het 637.56 56 17 38186106 . C T 637.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.386;DP=56;Dels=0.00;FS=6.203;HRun=0;HaplotypeScore=0.0000;MQ=58.46;MQ0=0;MQRankSum=-0.518;QD=11.39;ReadPosRankSum=1.400;VQSLOD=4.7797;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,24:56:99:668,0,781 17 38457151 38457151 G A exonic CDC6 nonsynonymous SNV CDC6:NM_001254:exon10:c.G1321A:p.V441I 0.28 0.53 0.18 0.35 0.11 0.11 0.1585 0.4665 0.1370 0.3512 0.1200 0.1084 0.125 0.0986 0.23 0.46 0.11 0.25 0.11 rs13706 COSM4984891 7(soft_tissue) other|Benign not_specified|Meier-Gorlin_syndrome RCV000116607.3|RCV000365723.1 MedGen|MedGen:Orphanet CN169374|C1868684:ORPHA2554 . . . . . . 0.023 0.481 D 0.838 0.444 P 0.444 0.441 B 0.000 0.463 N 0.006 0.421 P 2.035 0.558 M 0.64 0.529 T -0.9 0.242 N 0.074 0.064 -0.891 0.488 T 0.000 0.000 T . . . 3.961 0.533 23.6 0.996 0.746 0.920 0.546 D c 0.241 0.288 0.999 0.399 0.707 0.730 0 3.82 0.430 4.480 0.597 0.141 0.225 1.000 0.715 0.983 0.502 10.430 0.434 . . . 0.1531 0.4764 0.1394 0.0966 0.3539 0.1190 0.1098 0.1310 0.0990 0.2182 0.4682 0.1325 0.1490 0.3404 0.1142 0.0965 0.1242 het 4061.90 250 17 38457151 . G A 4061.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.288;DP=250;DS;Dels=0.00;FS=3.517;HRun=2;HaplotypeScore=3.8596;MQ=59.64;MQ0=0;MQRankSum=0.465;QD=16.25;ReadPosRankSum=0.964;VQSLOD=5.5232;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,123:250:99:3405,0,3635 17 38855772 38855772 T C exonic KRT24 nonsynonymous SNV KRT24:NM_019016:exon6:c.A1285G:p.K429E 0.58 0.6 0.68 0.58 0.47 0.59 0.5219 0.5780 0.7351 0.5982 0.5240 0.4494 0.5297 0.5888 0.49 0.57 0.44 0.46 0.48 rs2462961 COSM3755469 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.395 0.030 N -2.23 0.871 D 1.33 0.009 N 0.03 0.011 -0.950 0.409 T 0.000 0.000 T . . . -0.924 0.035 0.023 0.129 0.002 0.181 0.199 N c -1.439 -1.298 0.998 0.370 0.487 0.133 0 4.63 0.570 -0.520 0.063 -0.425 0.059 0.000 0.063 0.002 0.062 10.802 0.455 . ENSG00000167916.4|ENSG00000264058.1|ENSG00000167916.4 Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Mucosa 0.5267 0.5802 0.7266 0.4514 0.5976 0.5217 0.4403 0.5235 0.5839 0.5091 0.5751 0.6770 0.4633 0.5964 0.5244 0.4510 0.4817 het 4000.22 249 17 38855772 . T C 4000.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.318;DP=249;DS;Dels=0.00;FS=2.846;HRun=0;HaplotypeScore=4.6048;MQ=59.50;MQ0=0;MQRankSum=0.239;QD=16.07;ReadPosRankSum=-0.317;VQSLOD=5.4495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:117,132:249:99:3352,0,3185 17 38857446 38857446 C A exonic KRT24 nonsynonymous SNV KRT24:NM_019016:exon3:c.G801T:p.M267I 0.48 0.24 0.64 0.58 0.46 0.59 0.4860 0.2651 0.7129 0.5965 0.5213 0.4384 0.5110 0.5849 0.38 0.28 0.43 0.35 0.48 rs874889 COSM3755470 1(large_intestine) . . . . . . . . . . . 0.431 0.095 T 0.0 0.026 B 0.002 0.063 B . . . 0.993 0.238 P 1.815 0.479 L -1.43 0.807 T -1.5 0.366 N 0.119 0.132 -0.903 0.477 T 0.000 0.000 T . . . 1.310 0.222 12.32 0.857 0.155 0.525 0.289 D c -0.805 -0.680 0.141 0.173 0.516 0.203 0 2.79 0.317 0.505 0.222 0.004 0.136 0.402 0.260 0.975 0.474 8.290 0.309 . ENSG00000167916.4|ENSG00000264058.1|ENSG00000167916.4|ENSG00000264058.1|ENSG00000167916.4|ENSG00000167916.4|ENSG00000073584.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid 0.4965 0.2616 0.7037 0.4245 0.5977 0.5182 0.4298 0.4991 0.5796 0.4131 0.2591 0.6492 0.4305 0.6017 0.5206 0.4409 0.4571 het 1451.58 152 17 38857446 . C A 1451.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.584;DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5226;MQ=59.47;MQ0=0;MQRankSum=0.264;QD=9.55;ReadPosRankSum=-0.376;VQSLOD=6.6294;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,65:152:99:1482,0,2433 17 38858135 38858135 A - exonic KRT24 frameshift deletion KRT24:NM_019016:exon2:c.666delT:p.N222Kfs*10 0.46 0.19 0.63 0.6 0.46 0.59 0.4839 0.2286 0.7112 0.6114 0.5209 0.4384 0.5121 0.5856 0.37 0.24 0.43 0.33 0.46 rs11309872 COSM1684505 1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4889 0.2109 0.7096 0.4199 0.6031 0.5185 0.4273 0.4878 0.5776 0.4046 0.2238 0.6505 0.4305 0.6157 0.5230 0.4438 0.4615 het 1828.16 108 17 38858134 . CA C 1828.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.387;DP=108;FS=0.795;HRun=1;HaplotypeScore=268.3103;MQ=59.51;MQ0=0;MQRankSum=-0.811;QD=16.93;ReadPosRankSum=1.599;set=variant2 GT:AD:DP:GQ:PL 0/1:54,54:108:99:1867,0,2205 17 38911212 38911212 G A exonic KRT25 synonymous SNV KRT25:NM_181534:exon1:c.C312T:p.N104N 0.47 0.16 0.57 0.82 0.51 0.4 0.5219 0.2174 0.6811 0.8503 0.4959 0.5274 0.5540 0.4164 0.43 0.23 0.53 0.49 0.48 rs12951078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5339 0.2137 0.6689 0.5481 0.8553 0.4989 0.5263 0.5157 0.4178 0.4537 0.2216 0.6325 0.5099 0.8649 0.5006 0.5176 0.5256 het 3981.65 249 17 38911212 . G A 3981.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.174;DP=249;DS;Dels=0.00;FS=9.078;HRun=0;HaplotypeScore=8.6626;MQ=59.21;MQ0=0;MQRankSum=-0.129;QD=15.99;ReadPosRankSum=-0.002;VQSLOD=3.1069;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,121:249:99:3343,0,3237 17 38911363 38911363 G A exonic KRT25 nonsynonymous SNV KRT25:NM_181534:exon1:c.C161T:p.S54L 0.32 0.031 0.29 0.66 0.39 0.31 0.3827 0.0814 0.3264 0.6612 0.4221 0.4145 0.4251 0.3196 0.3 0.093 0.41 0.35 0.32 rs12951399 COSM4000124 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.188 0.213 T 0.001 0.067 B 0.0 0.013 B 0.045 0.019 N 1 0.090 P 1.32 0.331 L -1.73 0.833 D -1.74 0.412 N 0.091 0.089 -0.966 0.380 T 0.000 0.000 T . . . -0.185 0.077 1.178 0.743 0.103 0.063 0.122 N c -1.201 -1.175 0.000 0.029 0.487 0.133 0 1.03 0.191 1.112 0.306 0.137 0.221 0.002 0.151 0.207 0.219 5.397 0.155 . ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000171446.6|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid 0.3869 0.0791 0.3317 0.4168 0.6696 0.4233 0.4113 0.3761 0.3193 0.3319 0.0882 0.3230 0.3874 0.6627 0.4178 0.4124 0.4122 het 1955.20 148 17 38911363 . G A 1955.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.220;DP=148;Dels=0.00;FS=9.951;HRun=1;HaplotypeScore=5.4872;MQ=59.56;MQ0=0;MQRankSum=0.380;QD=13.21;ReadPosRankSum=-0.280;VQSLOD=4.3253;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,73:148:99:1985,0,1944 17 38935812 38935812 A G exonic KRT27 nonsynonymous SNV KRT27:NM_181537:exon5:c.T914C:p.I305T 0.56 0.45 0.62 0.83 0.52 0.41 0.5581 0.4646 0.7003 0.8527 0.5036 0.5444 0.5852 0.4388 0.52 0.46 0.55 0.59 0.51 rs981684 COSM4999935 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -1.825 0.003 N -2.26 0.874 D 4.39 0.000 N 0.086 0.081 -0.949 0.412 T 0.000 0.000 T . . . 0.759 0.166 9.205 0.721 0.095 0.071 0.129 N c -1.019 -0.761 1.000 0.747 0.598 0.340 0 5.52 0.821 1.277 0.326 0.104 0.200 0.289 0.250 0.291 0.235 14.010 0.639 . ENSG00000234477.1|ENSG00000171446.6 Adipose_Subcutaneous|Nerve_Tibial 0.5650 0.4642 0.6939 0.5529 0.8590 0.5062 0.5428 0.5476 0.4403 0.5364 0.4732 0.6559 0.5298 0.8696 0.5074 0.5362 0.5561 het 1299.30 111 17 38935812 . A G 1299.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.075;DP=111;Dels=0.00;FS=3.563;HRun=1;HaplotypeScore=1.8136;MQ=59.33;MQ0=0;MQRankSum=-0.664;QD=11.71;ReadPosRankSum=-1.626;VQSLOD=5.8870;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,55:111:99:1329,0,1376 17 38936659 38936659 C T exonic KRT27 nonsynonymous SNV KRT27:NM_181537:exon3:c.G577A:p.G193S 0.35 0.12 0.29 0.66 0.41 0.31 0.4051 0.1534 0.3352 0.6575 0.4346 0.4360 0.4452 0.3399 0.34 0.16 0.44 0.41 0.32 rs17558560 COSM5426683 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.018 0.506 D 0.152 0.264 B 0.314 0.398 B 0.002 0.378 N 0.015 0.402 P 1.545 0.392 L -1.63 0.825 D -4.82 0.808 D 0.037 0.017 -0.888 0.491 T 0.000 0.000 T . . . 3.307 0.456 22.9 0.995 0.693 0.293 0.235 N c -0.484 -0.529 0.009 0.118 0.497 0.185 0 3.41 0.380 0.573 0.232 0.935 0.490 0.011 0.184 0.219 0.221 11.131 0.474 . ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000171446.6|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Stomach|Thyroid 0.4047 0.1497 0.3412 0.4394 0.6696 0.4347 0.4298 0.3888 0.3321 0.3671 0.1620 0.3433 0.4172 0.6644 0.4303 0.4356 0.4388 het 699.17 48 17 38936659 . C T 699.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.438;DP=48;Dels=0.00;FS=6.118;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=-0.300;QD=14.57;ReadPosRankSum=0.797;VQSLOD=5.3169;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,26:48:99:729,0,575 17 38938557 38938557 G A exonic KRT27 synonymous SNV KRT27:NM_181537:exon1:c.C189T:p.G63G 0.088 0.0023 0.06 0.07 0.14 0.18 0.1161 0.0228 0.0571 0.0523 0.1772 0.1348 0.1178 0.1497 0.096 0.029 0.13 0.065 0.15 rs67771170 COSM3755474 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1166 0.0199 0.0562 0.1274 0.0514 0.1817 0.1346 0.1348 0.1480 0.1092 0.0249 0.0597 0.1490 0.0475 0.1813 0.1476 0.1497 het 1179.95 103 17 38938557 . G A 1179.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.019;DP=103;Dels=0.00;FS=5.636;HRun=0;HaplotypeScore=7.9387;MQ=58.87;MQ0=0;MQRankSum=-0.890;QD=11.46;ReadPosRankSum=1.195;VQSLOD=3.7076;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,48:103:99:1210,0,1204 17 38938591 38938591 C G exonic KRT27 nonsynonymous SNV KRT27:NM_181537:exon1:c.G155C:p.S52T 0.31 0.37 0.4 0.24 0.28 0.26 0.2806 0.3610 0.4283 0.2408 0.2530 0.2584 0.2770 0.2485 0.3 0.36 0.26 0.27 0.33 rs2469826 COSM148267 1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.694 0.042 T 0.325 0.314 B 0.15 0.325 B 0.000 0.491 D 0.859 0.284 P 0.805 0.203 L -1.74 0.834 D -1.17 0.299 N 0.13 0.149 -1.066 0.104 T 0.000 0.000 T . . . 1.177 0.208 11.63 0.867 0.161 0.704 0.343 D c -0.351 -0.340 0.002 0.090 0.487 0.094 0 3.41 0.380 2.521 0.450 0.935 0.490 0.131 0.231 0.586 0.286 10.227 0.422 . ENSG00000167920.4|ENSG00000167920.4 Cells_Transformed_fibroblasts|Thyroid 0.2861 0.3562 0.4145 0.2827 0.2380 0.2600 0.2603 0.3087 0.2480 0.2913 0.3546 0.3866 0.3013 0.2481 0.2665 0.2602 0.2786 het 1134.59 97 17 38938591 . C G 1134.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.314;DP=97;Dels=0.00;FS=1.904;HRun=1;HaplotypeScore=4.3148;MQ=58.82;MQ0=1;MQRankSum=1.277;QD=11.70;ReadPosRankSum=-0.778;VQSLOD=5.4536;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,47:97:99:1165,0,1325 17 38950272 38950272 T C exonic KRT28 synonymous SNV KRT28:NM_181535:exon6:c.A1005G:p.T335T 0.62 0.81 0.53 0.42 0.62 0.62 0.5807 0.7744 0.4247 0.3927 0.6349 0.5873 0.5716 0.6187 0.65 0.77 0.58 0.64 0.67 rs2250671 COSM4416154 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5731 0.7759 0.4383 0.5140 0.3980 0.6328 0.5920 0.5862 0.6225 0.6329 0.7743 0.4594 0.5364 0.3969 0.6395 0.5875 0.6082 hom 5255.05 175 17 38950272 . T C 5255.05 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.108;DP=175;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9974;MQ=56.94;MQ0=0;MQRankSum=1.108;QD=30.03;ReadPosRankSum=-1.511;VQSLOD=4.6635;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,173:175:99:5216,425,0 17 38955991 38955991 C T exonic KRT28 nonsynonymous SNV KRT28:NM_181535:exon1:c.G155A:p.G52D 0.1 0.13 0.11 0.004 0.18 0.091 0.1428 0.1164 0.0898 0.0023 0.1602 0.1766 0.1446 0.1268 0.15 0.11 0.18 0.12 0.29 rs7209228 COSM3755477 2(pancreas);1(large_intestine) . . . . . . . . . . . 0.015 0.524 D 0.808 0.433 P 0.186 0.344 B 0.134 0.185 N 0.986 0.246 P 2.015 0.552 M -2.37 0.882 D -3.54 0.686 D 0.246 0.301 -1.017 0.247 T 0.002 0.006 T . . . 3.404 0.467 23.0 0.987 0.445 0.726 0.352 D c -0.162 -0.142 0.344 0.196 0.447 0.083 0 3.47 0.387 0.488 0.219 0.023 0.146 0.000 0.063 0.233 0.224 14.993 0.709 . ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Thyroid 0.1418 0.1127 0.0925 0.1656 0.0024 0.1586 0.1796 0.1614 0.1281 0.1482 0.1098 0.1038 0.1623 0.0037 0.1683 0.1817 0.1792 hom 4492.23 147 17 38955991 . C T 4492.23 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5893;MQ=59.53;MQ0=0;QD=30.56;VQSLOD=5.2262;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4491,379,0 17 38978536 38978536 A C exonic KRT10 nonsynonymous SNV KRT10:NM_000421:exon1:c.T302G:p.I101S 1. 1. 1. 1. 1. 1. 0.9988 0.9998 0.9992 1 0.9944 0.9985 0.9989 0.9998 1. 1. 1. 1. 0.98 rs4261597 . . . . . . . . . . . . . 0.483 0.081 T 0.0 0.026 B 0.0 0.013 B . . . 0.000 0.810 P -1.87 0.003 N -1.3 0.796 T 1.72 0.006 N 0.211 0.259 -0.959 0.394 T 0.000 0.000 T . . . 1.870 0.286 15.41 0.974 0.332 0.003 0.018 N c -0.924 -0.785 1.000 0.747 0.554 0.283 0 5.36 0.765 2.059 0.408 0.034 0.151 0.004 0.165 0.004 0.083 15.616 0.764 . . . 0.9985 0.9997 0.9986 1 1 0.9943 0.9985 0.9996 0.9994 0.9985 0.9998 0.9988 0.9967 1 0.9937 0.9987 0.9990 hom 3364.95 107 17 38978536 . A C 3364.95 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.538;DP=107;Dels=0.00;FS=5.357;HRun=0;HaplotypeScore=4.8117;MQ=58.78;MQ0=0;MQRankSum=1.667;QD=31.45;ReadPosRankSum=1.505;VQSLOD=3.4005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,106:107:99:3334,234,0 17 38990834 38990834 G C exonic TMEM99 synonymous SNV TMEM99:NM_001195386:exon3:c.G66C:p.V22V,TMEM99:NM_001195387:exon3:c.G66C:p.V22V,TMEM99:NM_145274:exon3:c.G66C:p.V22V 0.9 0.96 0.8 0.81 0.96 0.94 0.9263 0.9625 0.7015 0.7926 0.9467 0.9693 0.9367 0.9487 0.97 0.97 0.97 0.88 0.96 rs2240078 COSM4000127 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9172 0.9632 0.7162 0.9774 0.7943 0.9471 0.9696 0.9333 0.9483 0.9482 0.9613 0.7387 0.9570 0.7831 0.9459 0.9707 0.9449 hom 2516.59 76 17 38990834 . G C 2516.59 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=59.39;MQ0=0;QD=33.11;VQSLOD=8.6771;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2550,199,0 17 38991032 38991032 T A exonic TMEM99 synonymous SNV TMEM99:NM_001195386:exon3:c.T264A:p.G88G,TMEM99:NM_001195387:exon3:c.T264A:p.G88G,TMEM99:NM_145274:exon3:c.T264A:p.G88G 0.58 0.68 0.45 0.45 0.61 0.65 0.5719 0.6683 0.3521 0.4275 0.5891 0.5970 0.5367 0.6379 0.62 0.68 0.6 0.49 0.66 rs6694 COSM5425575 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5630 0.6666 0.3641 0.5617 0.4349 0.5891 0.6016 0.5721 0.6410 0.5997 0.6614 0.4010 0.5497 0.4506 0.6031 0.5925 0.5809 hom 7216.39 242 17 38991032 . T A 7216.39 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7653;MQ=56.09;MQ0=0;QD=29.82;VQSLOD=4.2908;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:242:99:7215,593,0 17 38991052 38991052 T G exonic TMEM99 nonsynonymous SNV TMEM99:NM_001195386:exon3:c.T284G:p.L95R,TMEM99:NM_001195387:exon3:c.T284G:p.L95R,TMEM99:NM_145274:exon3:c.T284G:p.L95R 0.11 0.12 0.12 0.004 0.19 0.1 0.1565 0.1196 0.0933 0.0023 0.1818 0.1962 0.1533 0.1326 0.17 0.11 0.19 . 0.31 rs1044806 COSM3755479 1(large_intestine) . . . . . . . . . . . . . . 0.966 0.542 D 0.883 0.609 P . . . 1 0.090 P 0 0.065 N 1.4 0.336 T -3.4 0.670 D 0.23 0.613 -1.036 0.184 T 0.000 0.000 T . . . 1.837 0.282 15.20 0.910 0.197 0.004 0.019 N c -0.649 -0.896 0.943 0.275 0.707 0.730 0 0.158 0.142 0.214 0.172 0.341 0.273 0.051 0.212 0.086 0.183 . . . ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4|ENSG00000167920.4 Adipose_Subcutaneous|Artery_Coronary|Artery_Tibial|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Thyroid 0.1550 0.1157 0.0966 0.1715 0.0024 0.1793 0.2004 0.1762 0.1335 0.1614 0.1136 0.1089 0.1623 0.0037 0.1893 0.2005 0.1963 hom 6382.52 218 17 38991052 . T G 6382.52 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.157;DP=218;DS;Dels=0.00;FS=6.333;HRun=0;HaplotypeScore=7.7575;MQ=56.29;MQ0=0;MQRankSum=2.055;QD=29.28;ReadPosRankSum=2.022;VQSLOD=2.5940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,216:218:99:6314,475,0 17 38991053 38991053 T A exonic TMEM99 synonymous SNV TMEM99:NM_001195386:exon3:c.T285A:p.L95L,TMEM99:NM_001195387:exon3:c.T285A:p.L95L,TMEM99:NM_145274:exon3:c.T285A:p.L95L 0.11 0.12 0.12 0.004 0.19 0.1 0.1565 0.1196 0.0933 0.0023 0.1818 0.1962 0.1533 0.1326 0.17 0.11 0.19 . 0.31 rs3169915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1550 0.1157 0.0966 0.1715 0.0024 0.1793 0.2004 0.1762 0.1335 0.1614 0.1136 0.1098 0.1623 0.0037 0.1891 0.2004 0.1963 hom 6325.64 218 17 38991053 . T A 6325.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.269;DP=218;DS;Dels=0.00;FS=3.031;HRun=0;HaplotypeScore=7.7575;MQ=56.18;MQ0=0;MQRankSum=2.076;QD=29.02;ReadPosRankSum=2.144;VQSLOD=2.3283;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,216:218:99:6257,463,0 17 39081713 39081713 A G exonic KRT23 synonymous SNV KRT23:NM_001282433:exon6:c.T624C:p.H208H,KRT23:NM_015515:exon7:c.T1035C:p.H345H 0.57 0.56 0.61 0.71 0.41 0.58 0.4813 0.5285 0.6761 0.7130 0.3437 0.4004 0.4615 0.5765 0.44 0.53 0.39 0.56 0.36 rs8037 COSM3755481 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4843 0.5352 0.6521 0.4661 0.7042 0.3392 0.3983 0.4838 0.5762 0.4450 0.5333 0.6205 0.4503 0.7138 0.3444 0.3792 0.4274 het 1461.11 114 17 39081713 . A G 1461.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.826;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.80;MQ0=0;MQRankSum=0.508;QD=12.82;ReadPosRankSum=1.002;VQSLOD=6.5041;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,54:114:99:1491,0,1644 17 39084504 39084504 T C exonic KRT23 nonsynonymous SNV KRT23:NM_001282433:exon5:c.A496G:p.T166A,KRT23:NM_015515:exon6:c.A907G:p.T303A 0.58 0.6 0.61 0.71 0.41 0.59 0.4850 0.5575 0.6770 0.7131 0.3433 0.4009 0.4626 0.5833 0.45 0.56 0.39 0.61 0.36 rs9257 COSM3755482 1(breast);1(haematopoietic_and_lymphoid_tissue);1(oesophagus);2(large_intestine) . . . . . . . . . . . 0.724 0.063 T 0.0 0.026 B 0.0 0.013 B 0.020 0.272 N 1.000 0.182 P -1.205 0.008 N -2.31 0.878 D -0.24 0.108 N 0.031 0.012 -0.970 0.371 T 0.000 0.000 T . . . 0.633 0.154 8.380 0.693 0.087 0.216 0.212 N c -1.317 -1.151 0.001 0.074 0.554 0.246 0 -1.48 0.082 0.353 0.197 -0.880 0.027 0.944 0.326 0.805 0.338 8.490 0.321 . ENSG00000108244.12|ENSG00000108244.12|ENSG00000234477.1|ENSG00000108244.12 Lung|Spleen|Whole_Blood|Whole_Blood 0.4875 0.5633 0.6535 0.4673 0.7043 0.3391 0.3989 0.4849 0.5829 0.4534 0.5613 0.6229 0.4533 0.7153 0.3443 0.3799 0.4315 het 3919.49 228 17 39084504 . T C 3919.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.714;DP=228;DS;Dels=0.00;FS=3.741;HRun=1;HaplotypeScore=3.5100;MQ=59.01;MQ0=0;MQRankSum=-0.267;QD=17.19;ReadPosRankSum=-0.244;VQSLOD=5.3885;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,119:228:99:3344,0,2783 17 39305956 39305956 G A exonic KRTAP4-5 nonsynonymous SNV KRTAP4-5:NM_033188:exon1:c.C64T:p.R22C 0.44 0.37 0.51 0.35 0.49 0.53 0.4788 0.3854 0.4662 0.3763 0.5674 0.4881 0.5056 0.5223 0.45 0.38 0.48 0.21 0.52 rs1497383 COSM3755503 1(large_intestine) . . . . . . . . . . . 0.08 0.335 T 0.06 0.217 B 0.013 0.154 B 0.885 0.087 U 0.988 0.244 P 1.625 0.417 L 4.88 0.015 T -3.37 0.666 D 0.117 0.129 -0.978 0.354 T 0.000 0.000 T . . . 1.661 0.261 14.19 0.908 0.195 0.054 0.111 N c -0.851 -0.919 0.000 0.012 0.487 0.133 0 1.46 0.217 -0.756 0.048 -0.457 0.055 0.000 0.063 0.001 0.043 2.132 0.035 . ENSG00000171360.3 Cells_Transformed_fibroblasts 0.4889 0.3781 0.4896 0.5443 0.3751 0.5680 0.4892 0.4928 0.5300 0.4662 0.3867 0.4988 0.5232 0.3663 0.5648 0.4952 0.4959 het 1374.27 113 17 39305956 . G A 1374.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.174;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=55.98;MQ0=0;MQRankSum=1.323;QD=12.16;ReadPosRankSum=0.635;VQSLOD=5.3105;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,54:113:99:1404,0,1527 17 39334133 39334133 T C exonic KRTAP4-2 nonsynonymous SNV KRTAP4-2:NM_033062:exon1:c.A284G:p.Y95C 0.95 0.94 0.97 0.95 0.93 0.98 0.9399 0.9437 0.9749 0.9421 0.9273 0.9269 0.9545 0.9687 0.93 0.94 0.92 0.39 0.96 rs389784 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B . . . 0.940 0.268 P -4.355 0.000 N 5.76 0.007 T 9.84 0.000 N 0.034 0.287 -0.981 0.348 T 0.000 0.000 T . . . 0.593 0.151 8.106 0.894 0.182 0.004 0.018 N c -1.325 -0.975 0.966 0.289 0.500 0.196 0 4.65 0.575 0.646 0.243 0.033 0.151 0.000 0.063 0.017 0.128 11.094 0.472 . ENSG00000171360.3|ENSG00000171360.3 Spleen|Whole_Blood 0.9404 0.9391 0.9681 0.9426 0.9413 0.9301 0.9261 0.9459 0.9677 0.9345 0.9365 0.9666 0.93 0.9465 0.9227 0.9328 0.9405 hom 4538.14 144 17 39334133 . T C 4538.14 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8188;MQ=56.82;MQ0=0;QD=31.51;VQSLOD=5.6733;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4538,358,0 17 39334241 39334241 G C exonic KRTAP4-2 nonsynonymous SNV KRTAP4-2:NM_033062:exon1:c.C176G:p.T59S 0.019 0.0023 0.017 . 0.072 0.0092 0.0439 0.0080 0.0139 0 0.0966 0.0637 0.0438 0.0084 0.044 0.013 0.06 . 0.066 rs62067292 . . . . . . . . . . . . . 0.538 0.068 T 0.449 0.342 B 0.372 0.418 B 0.488 0.050 N 1 0.090 N -0.04 0.050 N 5.0 0.014 T -1.67 0.399 N 0.039 0.019 -0.944 0.421 T 0.001 0.002 T . . . -0.463 0.058 0.271 0.619 0.066 0.011 0.041 N c -1.598 -1.776 0.999 0.383 0.487 0.133 0 -9.33 0.005 -5.417 0.001 0.045 0.158 0.000 0.063 0.211 0.220 23.988 1.000 . ENSG00000108759.3 Testis 0.0435 0.0081 0.0159 0.0149 0 0.0956 0.0649 0.0492 0.0085 0.0517 0.0107 0.0144 0.02 0.0006 0.1005 0.0707 0.0779 het 2046.14 151 17 39334241 . G C 2046.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.453;DP=151;Dels=0.00;FS=1.340;HRun=0;HaplotypeScore=5.7387;MQ=56.54;MQ0=0;MQRankSum=0.762;QD=13.55;ReadPosRankSum=-1.745;VQSLOD=2.3335;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,72:151:99:2076,0,2308 17 39340707 39340707 C T exonic KRTAP4-1 nonsynonymous SNV KRTAP4-1:NM_033060:exon2:c.G343A:p.A115T 0.95 0.94 0.97 0.95 0.93 0.98 0.9396 0.9431 0.9754 0.9425 0.9274 0.9268 0.9552 0.9740 0.93 0.94 0.92 0.41 . rs398825 . . . . . . . . . . . . . 0.237 0.179 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 5.06 0.013 T 1.41 0.008 N 0.051 0.032 -1.049 0.147 T 0.000 0.000 T . . . 0.244 0.117 5.132 0.823 0.136 0.000 0.004 N c -1.330 -1.388 0.000 0.029 0.554 0.246 0 -1.83 0.074 -1.203 0.031 -0.340 0.072 0.000 0.063 0.000 0.016 6.815 0.229 . ENSG00000171360.3|ENSG00000171360.3 Spleen|Whole_Blood 0.9440 0.9410 0.9730 0.9532 0.9426 0.9327 0.9294 0.9496 0.9720 0.9345 0.9364 0.9665 0.93 0.9454 0.9232 0.9325 0.9427 hom 7072.24 233 17 39340707 . C T 7072.24 Mask AC=2;AF=1.00;AN=2;DP=233;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9880;MQ=58.48;MQ0=0;QD=30.35;VQSLOD=8.4884;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,233:233:99:7071,590,0 17 39340910 39340910 T C exonic KRTAP4-1 nonsynonymous SNV KRTAP4-1:NM_033060:exon1:c.A197G:p.H66R 0.95 0.94 0.97 0.95 0.93 0.98 0.9466 0.9447 0.9805 0.9486 0.9395 0.9334 0.9567 0.9770 0.93 0.94 0.92 0.53 . rs2320231 . . . . . . . . . . . . . 0.882 0.025 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P . . . 6.34 0.006 T 2.19 0.003 N 0.087 0.083 -1.000 0.300 T 0.000 0.000 T . . . -0.926 0.035 0.023 0.659 0.077 0.000 0.003 N c -0.956 -0.928 0.000 0.050 0.487 0.133 0 2.33 0.279 -1.089 0.035 0.015 0.141 0.000 0.063 0.359 0.247 3.577 0.074 . ENSG00000171360.3|ENSG00000171360.3 Spleen|Whole_Blood 0.9463 0.9428 0.9745 0.9516 0.9450 0.9350 0.9319 0.9528 0.9742 0.9361 0.9380 0.9642 0.9262 0.9451 0.9243 0.9348 0.9441 hom 3357.17 114 17 39340910 . T C 3357.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.671;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0265;MQ=57.69;MQ0=0;MQRankSum=0.751;QD=29.45;ReadPosRankSum=0.690;VQSLOD=5.2717;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,113:114:99:3356,292,0 17 39394711 39394725 GACCACCTGCTGCAG - exonic KRTAP9-8 nonframeshift deletion KRTAP9-8:NM_031963:exon1:c.408_422del:p.C140_C144del . . . . . . 0.1091 0.0241 0.1233 0.1869 0.1970 0.1045 0.1341 0.0879 . . . . . rs373648251 COSM1383118 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0778 0.0160 0.0860 0.0934 0.1318 0.1338 0.0717 0.0644 0.0569 0.0851 0.0196 0.1461 0.1057 0.1408 0.1831 0.0832 0.0944 het 1173.16 63 17 39394710 . AGACCACCTGCTGCAG A 1173.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.206;DP=63;DS;FS=0.000;HRun=0;HaplotypeScore=1081.1583;MQ=15.53;MQ0=125;MQRankSum=-1.031;QD=5.28;ReadPosRankSum=-1.193;set=variant2 GT:AD:DP:GQ:PL 0/1:188,34:63:99:1212,0,5920 17 39406409 39406409 C A exonic KRTAP9-4 nonsynonymous SNV KRTAP9-4:NM_033191:exon1:c.C437A:p.S146Y 0.68 0.51 0.8 0.63 0.73 0.8 0.7369 0.5235 0.8594 0.6528 0.8092 0.7339 0.7588 0.8118 0.66 0.52 0.72 0.11 0.79 rs2191379 COSM3755510 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.024 0.477 D 0.339 0.316 B 0.093 0.286 B . . . 1 0.090 P 1.7 0.440 L 5.3 0.011 T -3.57 0.690 D 0.182 0.222 -1.137 0.015 T 0.000 0.000 T . . . 0.606 0.152 8.200 0.896 0.184 0.023 0.066 N c -0.771 -0.865 0.000 0.012 0.497 0.185 0 1.38 0.212 -0.050 0.118 -3.230 0.001 0.000 0.063 0.001 0.043 4.338 0.105 . ENSG00000094796.4|ENSG00000234859.1 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.7460 0.5195 0.8493 0.7338 0.6470 0.8063 0.7321 0.7497 0.8116 0.6854 0.5317 0.8341 0.7119 0.6452 0.8031 0.7387 0.7413 hom 7319.79 240 17 39406409 . C A 7319.79 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.446;DP=240;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5726;MQ=53.27;MQ0=1;MQRankSum=1.337;QD=30.50;ReadPosRankSum=-0.446;VQSLOD=3.3738;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,239:240:99:7284,604,0 17 39535859 39535859 A G exonic KRT34 nonsynonymous SNV KRT34:NM_021013:exon4:c.T839C:p.I280T 0.74 0.97 0.67 0.59 0.65 0.76 0.6983 0.9248 0.7317 0.6055 0.6632 0.6581 0.6770 0.7582 0.74 0.91 0.65 0.75 0.7 rs2239710 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 1.000 0.209 P -2.74 0.000 N -1.09 0.772 T . . . 0.046 0.026 -0.978 0.355 T 0.000 0.000 T . . . 0.317 0.125 5.857 0.144 0.003 0.458 0.274 N c -1.023 -0.756 0.971 0.292 0.497 0.185 0 3.56 0.397 2.091 0.411 0.073 0.181 1.000 0.715 0.932 0.405 7.274 0.253 . ENSG00000108759.3 Testis 0.6895 0.9265 0.7141 0.6271 0.6006 0.6582 0.6574 0.6769 0.7560 0.7265 0.9276 0.6921 0.6358 0.5847 0.6687 0.6444 0.6881 het 2106.41 145 17 39535859 . A G 2106.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.670;DP=145;Dels=0.00;FS=1.373;HRun=0;HaplotypeScore=3.4317;MQ=58.56;MQ0=0;MQRankSum=0.026;QD=14.53;ReadPosRankSum=0.093;VQSLOD=5.9640;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,78:145:99:2136,0,1860 17 39580559 39580559 T A exonic KRT37 nonsynonymous SNV KRT37:NM_003770:exon1:c.A217T:p.S73C 0.39 0.18 0.34 0.41 0.46 0.62 0.4372 0.2116 0.2679 0.4007 0.3496 0.4793 0.4657 0.5803 0.4 0.22 0.49 0.35 0.53 rs9916475 COSM4130048 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 1.000 0.186 P -2.235 0.001 N -1.49 0.812 T 6.1 0.000 N 0.061 0.045 -0.927 0.446 T 0.000 0.000 T . . . 0.572 0.149 7.959 0.591 0.060 0.156 0.188 N c -1.201 -0.950 0.001 0.075 0.497 0.185 0 4.69 0.584 0.830 0.269 0.238 0.266 0.418 0.261 0.004 0.083 2.665 0.047 . ENSG00000108759.3|ENSG00000108417.3|ENSG00000126337.9|ENSG00000108759.3 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis 0.4330 0.2092 0.2759 0.5085 0.4055 0.3504 0.4829 0.4705 0.5791 0.3840 0.2201 0.2957 0.51 0.3985 0.3480 0.4837 0.4703 het 1658.80 110 17 39580559 . T A 1658.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DP=110;Dels=0.00;FS=10.977;HRun=0;HaplotypeScore=0.9983;MQ=59.41;MQ0=0;MQRankSum=-0.173;QD=15.08;ReadPosRankSum=-1.119;VQSLOD=4.1398;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,57:110:99:1689,0,1541 17 39580562 39580562 T C exonic KRT37 nonsynonymous SNV KRT37:NM_003770:exon1:c.A214G:p.T72A 0.39 0.18 0.34 0.41 0.46 0.62 0.4373 0.2118 0.2681 0.4005 0.3499 0.4793 0.4657 0.5803 0.4 0.22 0.49 0.35 0.53 rs9916484 COSM3755529 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.04 0.421 D 0.019 0.167 B 0.004 0.093 B 0.004 0.338 N 0.999 0.219 P 0.345 0.112 N -1.47 0.811 T -0.52 0.162 N 0.072 0.061 -0.978 0.354 T 0.000 0.000 T . . . 0.193 0.112 4.602 0.908 0.195 0.386 0.258 N c -0.555 -0.499 0.083 0.159 0.497 0.185 0 4.69 0.584 0.671 0.247 1.056 0.757 0.007 0.175 0.002 0.062 12.087 0.528 . ENSG00000108759.3|ENSG00000108417.3|ENSG00000126337.9|ENSG00000108759.3 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis 0.4330 0.2094 0.2759 0.5085 0.4056 0.3506 0.4829 0.4703 0.5791 0.3841 0.2202 0.2957 0.51 0.4 0.3478 0.4839 0.4713 het 1573.60 102 17 39580562 . T C 1573.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.515;DP=102;Dels=0.00;FS=7.734;HRun=0;HaplotypeScore=0.9983;MQ=59.36;MQ0=0;MQRankSum=-1.411;QD=15.43;ReadPosRankSum=-1.405;VQSLOD=3.3144;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,54:102:99:1604,0,1405 17 39580660 39580660 T C exonic KRT37 nonsynonymous SNV KRT37:NM_003770:exon1:c.A116G:p.N39S 0.39 0.18 0.34 0.41 0.46 0.62 0.4381 0.2123 0.2691 0.4019 0.3509 0.4803 0.4645 0.5804 0.4 0.22 0.48 0.35 0.47 rs9916724 COSM3755530 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.854 0.027 T 0.0 0.026 B 0.0 0.013 B 0.455 0.124 N 1 0.090 P 0 0.065 N -1.47 0.811 T 0.27 0.043 N 0.088 0.084 -0.977 0.357 T 0.000 0.000 T . . . -0.046 0.089 2.162 0.371 0.024 0.038 0.090 N c -1.079 -1.089 0.000 0.042 0.570 0.322 0 2.94 0.330 -0.466 0.067 0.742 0.308 0.000 0.063 0.010 0.111 6.415 0.208 . ENSG00000108759.3|ENSG00000108417.3|ENSG00000126337.9|ENSG00000108759.3 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Testis 0.4335 0.2097 0.2763 0.5087 0.4057 0.3508 0.4837 0.4708 0.5793 0.3873 0.2207 0.3038 0.5132 0.4083 0.3481 0.4878 0.4725 het 1737.20 120 17 39580660 . T C 1737.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.115;DP=120;Dels=0.00;FS=7.149;HRun=0;HaplotypeScore=2.8896;MQ=59.81;MQ0=0;MQRankSum=-0.757;QD=14.48;ReadPosRankSum=-0.127;VQSLOD=3.9623;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,63:120:99:1767,0,1592 17 39580739 39580739 C A exonic KRT37 nonsynonymous SNV KRT37:NM_003770:exon1:c.G37T:p.G13C 0.22 0.15 0.21 0.084 0.28 0.39 0.2764 0.1638 0.1736 0.0967 0.2672 0.3109 0.2917 0.3942 0.26 0.17 0.31 0.2 0.36 rs9910204 . . . . . . . . . . . . . 0.152 0.244 T 0.975 0.561 D 0.423 0.434 B 0.026 0.260 N 1 0.090 P 1.65 0.424 L -1.75 0.835 D -1.0 0.264 N 0.209 0.256 -1.119 0.024 T 0.000 0.000 T . . . 4.174 0.560 23.8 0.979 0.365 0.204 0.208 N c -0.275 -0.383 0.000 0.053 0.603 0.348 0 4.0 0.455 3.028 0.491 0.784 0.316 0.350 0.255 0.003 0.074 12.269 0.538 . ENSG00000173801.12|ENSG00000108759.3|ENSG00000171360.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3 Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Pituitary|Prostate|Testis 0.2694 0.1598 0.1758 0.3388 0.0965 0.2579 0.3092 0.2977 0.3685 0.2522 0.1729 0.1921 0.3411 0.0848 0.2566 0.3134 0.3094 het 1908.61 152 17 39580739 . C A 1908.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.434;DP=152;Dels=0.00;FS=0.631;HRun=0;HaplotypeScore=3.5230;MQ=58.90;MQ0=1;MQRankSum=1.676;QD=12.56;ReadPosRankSum=0.427;VQSLOD=5.8222;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,79:152:99:1939,0,1952 17 39593768 39593768 A G exonic KRT38 nonsynonymous SNV KRT38:NM_006771:exon7:c.T1267C:p.S423P 0.93 0.94 0.92 1. 0.88 0.92 0.9134 0.9256 0.9124 0.9996 0.9011 0.9017 0.9278 0.9130 0.91 0.93 0.91 0.92 0.81 rs897416 . . . . . . . . . . . . . 0.512 0.074 T 0.0 0.026 B 0.0 0.013 B 0.103 0.198 N 1 0.090 P -0.145 0.044 N -1.58 0.820 D 1.06 0.013 N 0.053 0.035 -1.006 0.281 T 0.000 0.000 T . . . -0.422 0.060 0.342 0.188 0.006 0.000 0.002 N c -1.414 -1.448 0.000 0.052 0.497 0.185 0 -0.938 0.098 -0.105 0.108 -0.451 0.056 0.002 0.151 0.206 0.219 3.354 0.067 . . . 0.9089 0.9255 0.9079 0.9187 0.9995 0.8957 0.8989 0.9051 0.9077 0.9128 0.9254 0.9332 0.9172 1 0.8885 0.9018 0.8937 hom 581.30 20 17 39593768 . A G 581.30 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.88;MQ0=0;QD=29.07;VQSLOD=8.5047;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.15:614,48,0 17 39616430 39616430 G T exonic KRT32 nonsynonymous SNV KRT32:NM_002278:exon7:c.C1279A:p.P427T 0.82 0.75 0.78 0.77 0.95 0.86 0.8829 0.7777 0.6764 0.7793 0.9474 0.9434 0.8880 0.8738 0.89 0.78 0.95 0.75 0.9 rs2604953 . . . . . . . . . . . . . 0.081 0.334 T 0.295 0.307 B 0.055 0.246 B 0.494 0.120 N 1 0.090 P 1.495 0.376 L -2.21 0.870 D -2.22 0.498 N 0.068 0.118 -0.986 0.337 T 0.000 0.000 T . . . -0.199 0.076 1.102 0.733 0.100 0.026 0.070 N c -0.785 -0.915 0.001 0.074 0.487 0.133 0 0.565 0.164 -0.238 0.089 -0.572 0.046 0.001 0.137 0.000 0.016 3.116 0.059 Growth factor receptor cysteine-rich domain ENSG00000171360.3|ENSG00000131737.5 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.8772 0.7693 0.6954 0.9530 0.7739 0.9483 0.9423 0.8866 0.8752 0.8817 0.7729 0.7231 0.9603 0.7621 0.9467 0.9479 0.9153 hom 762.98 25 17 39616430 . G T 762.98 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.98;MQ0=0;QD=30.52;VQSLOD=8.4667;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:66.20:796,66,0 17 39619093 39619093 G A exonic KRT32 synonymous SNV KRT32:NM_002278:exon6:c.C1206T:p.N402N 0.62 0.63 0.57 0.68 0.67 0.5 0.6164 0.6348 0.4981 0.6581 0.7033 0.6445 0.6093 0.5178 0.63 0.62 0.63 . 0.53 rs2604954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6171 0.6320 0.5289 0.6360 0.6600 0.7119 0.6416 0.6042 0.5211 0.6391 0.6178 0.5383 0.6358 0.6506 0.7146 0.6397 0.6151 het 1695.65 150 17 39619093 . G A 1695.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.152;DP=150;Dels=0.00;FS=5.604;HRun=0;HaplotypeScore=3.2814;MQ=58.94;MQ0=0;MQRankSum=-0.159;QD=11.30;ReadPosRankSum=2.752;VQSLOD=3.4175;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,62:150:99:1726,0,2180 17 39619094 39619094 T C exonic KRT32 nonsynonymous SNV KRT32:NM_002278:exon6:c.A1205G:p.N402S 0.62 0.63 0.57 0.68 0.67 0.5 0.6164 0.6347 0.4981 0.6581 0.7035 0.6445 0.6084 0.5178 0.63 0.62 0.63 . 0.52 rs2604955 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.003 0.080 B 0.000 0.466 N 1 0.090 P -2.175 0.001 N -2.27 0.874 D 1.93 0.004 N 0.02 0.006 -0.974 0.363 T 0.000 0.000 T . . . 0.328 0.126 5.965 0.229 0.009 0.057 0.115 N c -0.800 -0.510 0.254 0.187 0.487 0.133 0 5.07 0.680 3.232 0.508 0.016 0.142 0.989 0.365 0.942 0.416 13.157 0.588 . ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3 Esophagus_Muscularis|Nerve_Tibial|Pituitary|Prostate|Spleen|Testis 0.6171 0.6320 0.5289 0.6355 0.6600 0.7120 0.6416 0.6040 0.5211 0.6391 0.6177 0.5383 0.6358 0.6508 0.7146 0.6399 0.6164 het 1881.03 151 17 39619094 . T C 1881.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.212;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2814;MQ=58.94;MQ0=0;MQRankSum=-1.191;QD=12.46;ReadPosRankSum=2.519;VQSLOD=4.0647;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,66:151:99:1911,0,2283 17 39619115 39619115 G A exonic KRT32 nonsynonymous SNV KRT32:NM_002278:exon6:c.C1184T:p.T395M 0.37 0.43 0.4 0.34 0.42 0.24 0.3754 0.4254 0.3694 0.3373 0.5169 0.3829 0.3609 0.2814 0.39 0.41 0.38 0.42 0.31 rs2071563 COSM3755533 4(haematopoietic_and_lymphoid_tissue);9(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 1.0 0.899 D 1.0 0.971 D 0.001 0.404 N 0.285 0.335 P 4 0.968 H -2.95 0.919 D -5.8 0.881 D 0.301 0.454 -1.530 0.000 T 0.000 0.000 T . . . 6.221 0.859 28.8 0.999 0.966 0.864 0.454 D c 0.684 0.554 0.363 0.198 0.487 0.133 0 5.07 0.680 2.413 0.440 0.953 0.551 0.799 0.295 0.947 0.422 17.801 0.884 Intermediate filament protein\x2c conserved site ENSG00000108759.3|ENSG00000108417.3|ENSG00000234859.1|ENSG00000108759.3 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.3806 0.4222 0.3932 0.3509 0.3378 0.5180 0.3801 0.3623 0.2853 0.4009 0.4139 0.3916 0.3411 0.3375 0.5132 0.3775 0.3719 het 2103.72 184 17 39619115 . G A 2103.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.427;DP=184;Dels=0.00;FS=0.596;HRun=0;HaplotypeScore=5.7948;MQ=59.06;MQ0=0;MQRankSum=0.023;QD=11.43;ReadPosRankSum=0.711;VQSLOD=4.5358;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,82:184:99:2134,0,2482 17 39619219 39619219 G A exonic KRT32 synonymous SNV KRT32:NM_002278:exon6:c.C1080T:p.N360N 0.62 0.63 0.57 0.68 0.67 0.5 0.6163 0.6353 0.4978 0.6575 0.7036 0.6445 0.6104 0.5170 0.64 0.63 0.64 0.65 0.53 rs2857257 COSM1383174 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6174 0.6326 0.5289 0.6348 0.6605 0.7122 0.6420 0.6041 0.5209 0.6429 0.6219 0.5467 0.6358 0.6564 0.7144 0.6438 0.6217 het 1932.27 170 17 39619219 . G A 1932.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.838;DP=170;Dels=0.00;FS=1.987;HRun=0;HaplotypeScore=4.0627;MQ=59.35;MQ0=0;MQRankSum=-1.380;QD=11.37;ReadPosRankSum=-0.112;VQSLOD=5.1188;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:95,75:170:99:1962,0,2521 17 39620399 39620399 C T exonic KRT32 synonymous SNV KRT32:NM_002278:exon5:c.G927A:p.Q309Q 0.3 0.21 0.38 0.31 0.42 0.25 0.3532 0.2228 0.3552 0.3219 0.5154 0.3772 0.3508 0.2865 0.32 0.21 0.37 0.34 0.3 rs12948056 COSM1563840 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3597 0.2190 0.3746 0.3472 0.3207 0.5168 0.3723 0.3466 0.2820 0.3422 0.2165 0.3819 0.3377 0.3239 0.5138 0.3735 0.3671 het 1624.43 128 17 39620399 . C T 1624.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.735;DP=128;Dels=0.00;FS=8.310;HRun=1;HaplotypeScore=4.6150;MQ=59.66;MQ0=0;MQRankSum=-0.702;QD=12.69;ReadPosRankSum=0.465;VQSLOD=4.5952;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,63:128:99:1654,0,1768 17 39620565 39620565 C T exonic KRT32 nonsynonymous SNV KRT32:NM_002278:exon4:c.G839A:p.R280H 0.18 0.043 0.2 0.11 0.27 0.32 0.2576 0.0659 0.1609 0.1227 0.2477 0.3017 0.2771 0.3520 0.23 0.081 0.3 0.11 0.38 rs72830046 COSM4130050 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.07 0.353 T 0.205 0.281 B 0.179 0.341 B 0.492 0.120 N 1.000 0.209 P 2.305 0.662 M -2.6 0.899 D -3.37 0.666 D 0.048 0.115 -0.978 0.355 T 0.000 0.000 T . . . 4.197 0.562 23.9 0.996 0.722 0.095 0.151 N c -0.463 -0.534 0.999 0.374 0.487 0.133 0 -2.66 0.057 -0.222 0.091 -0.739 0.035 0.000 0.063 0.987 0.523 4.826 0.127 . ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3 Esophagus_Muscularis|Nerve_Tibial|Ovary|Pituitary|Prostate|Spleen|Testis 0.2529 0.0648 0.1656 0.3013 0.1231 0.2379 0.3026 0.2781 0.3273 0.2204 0.0783 0.1806 0.3146 0.1202 0.2344 0.3075 0.2791 het 1796.12 103 17 39620565 . C T 1796.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.272;DP=103;Dels=0.00;FS=3.892;HRun=0;HaplotypeScore=0.9159;MQ=59.58;MQ0=0;MQRankSum=0.491;QD=17.44;ReadPosRankSum=0.004;VQSLOD=5.8779;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,70:103:99:1826,0,774 17 39622068 39622068 G T exonic KRT32 nonsynonymous SNV KRT32:NM_002278:exon3:c.C665A:p.S222Y 0.5 0.24 0.52 0.64 0.48 0.72 0.5120 0.2722 0.5831 0.6348 0.3713 0.4955 0.5430 0.6707 0.43 0.29 0.5 0.45 0.59 rs2071561 COSM3755534 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.983 0.585 D 0.977 0.722 D 0.002 0.385 N 0.268 0.337 P 4.51 0.990 H -2.74 0.907 D -5.9 0.888 D 0.146 0.430 -1.064 0.108 T 0.000 0.000 T . . . 5.404 0.732 26.0 0.995 0.671 0.442 0.270 N c 0.461 0.299 0.081 0.159 0.500 0.196 0 4.12 0.473 0.943 0.284 1.048 0.713 0.005 0.169 1.000 0.888 9.139 0.359 . ENSG00000108759.3 Testis 0.5121 0.2703 0.5554 0.5026 0.6365 0.3711 0.4980 0.5405 0.6665 0.4307 0.2757 0.5526 0.5067 0.6496 0.3686 0.4991 0.4990 het 1929.87 152 17 39622068 . G T 1929.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.198;DP=152;Dels=0.00;FS=1.338;HRun=0;HaplotypeScore=6.9688;MQ=59.70;MQ0=0;MQRankSum=0.002;QD=12.70;ReadPosRankSum=0.610;VQSLOD=4.4142;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,76:152:99:1960,0,1906 17 39623363 39623363 T C exonic KRT32 nonsynonymous SNV KRT32:NM_002278:exon1:c.A215G:p.Q72R 0.33 0.17 0.4 0.34 0.3 0.5 0.3502 0.1809 0.4896 0.3574 0.2882 0.3276 0.3625 0.4703 0.28 0.19 0.33 0.27 0.42 rs3744786 . . . . . . . . . . . . . 0.45 0.090 T 0.0 0.026 B 0.0 0.013 B 0.950 0.083 N 1 0.090 P -1.7 0.004 N -1.46 0.810 T -0.16 0.095 N 0.023 0.007 -1.025 0.220 T 0.000 0.000 T . . . -2.951 0.001 0.001 0.305 0.017 0.003 0.017 N c -1.767 -1.762 0.001 0.081 0.487 0.133 0 -2.1 0.068 -0.465 0.067 -0.870 0.028 0.000 0.063 0.005 0.090 10.225 0.422 . ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3 Esophagus_Muscularis|Nerve_Tibial|Pituitary|Prostate|Testis 0.3519 0.1812 0.4555 0.3467 0.3546 0.2793 0.3265 0.3691 0.4652 0.2872 0.1884 0.4436 0.3411 0.3569 0.2770 0.3267 0.3354 het 1107.68 102 17 39623363 . T C 1107.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.612;DP=102;Dels=0.00;FS=6.176;HRun=2;HaplotypeScore=4.2988;MQ=60.00;MQ0=0;MQRankSum=0.797;QD=10.86;ReadPosRankSum=0.010;VQSLOD=4.6409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,46:102:99:1138,0,1614 17 39633317 39633317 A G exonic KRT35 synonymous SNV KRT35:NM_002280:exon7:c.T1359C:p.G453G 0.73 0.74 0.67 0.64 0.71 0.87 0.7288 0.7323 0.7227 0.6388 0.6307 0.7235 0.7196 0.8670 0.72 0.74 0.72 0.74 0.56 rs2239711 COSM3932593 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7168 0.7307 0.6933 0.7280 0.6381 0.6228 0.7189 0.7392 0.8570 0.7088 0.7332 0.6718 0.7351 0.6520 0.6334 0.7175 0.7439 het 912.78 88 17 39633317 . A G 912.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.114;DP=88;Dels=0.00;FS=0.904;HRun=1;HaplotypeScore=2.6377;MQ=59.58;MQ0=0;MQRankSum=-0.571;QD=10.37;ReadPosRankSum=0.070;VQSLOD=5.6972;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,35:88:99:943,0,1230 17 39633349 39633349 G C exonic KRT35 nonsynonymous SNV KRT35:NM_002280:exon7:c.C1327G:p.P443A 0.55 0.64 0.54 0.35 0.54 0.65 0.5675 0.6165 0.6270 0.3590 0.5467 0.5550 0.5398 0.6720 0.57 0.62 0.54 0.54 0.46 rs2071601 COSM1750026 3(urinary_tract) . . . . . . . . . . . 0.019 0.512 D 0.038 0.196 B 0.022 0.184 B 0.001 0.428 D 0.021 0.395 P 2.485 0.726 M -1.45 0.809 T -1.27 0.379 N 0.248 0.303 -0.897 0.483 T 0.000 0.000 T . . . 4.991 0.671 25.1 0.991 0.521 0.898 0.502 D c 0.098 0.254 0.646 0.221 0.497 0.185 0 5.41 0.782 3.382 0.519 1.048 0.713 1.000 0.715 0.997 0.653 14.573 0.677 . ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3 Esophagus_Muscularis|Nerve_Tibial|Testis 0.5585 0.6141 0.5948 0.5615 0.3565 0.5347 0.5488 0.5729 0.6576 0.5570 0.6187 0.5634 0.5629 0.3562 0.5421 0.5445 0.5768 het 628.91 63 17 39633349 . G C 628.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.299;DP=63;Dels=0.00;FS=9.769;HRun=0;HaplotypeScore=1.5362;MQ=59.63;MQ0=0;MQRankSum=0.146;QD=9.98;ReadPosRankSum=-2.049;VQSLOD=3.1592;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,27:63:99:659,0,1064 17 39634625 39634625 A G exonic KRT35 synonymous SNV KRT35:NM_002280:exon5:c.T987C:p.A329A 0.58 0.74 0.56 0.34 0.54 0.65 0.5784 0.7041 0.6390 0.3633 0.5527 0.5572 0.5512 0.6656 0.6 0.7 0.54 0.59 0.55 rs7216017 COSM3766093 1(breast);1(liver);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5691 0.7050 0.6068 0.5669 0.3575 0.5386 0.5524 0.5800 0.6599 0.5826 0.7081 0.5759 0.56 0.3563 0.5413 0.5445 0.5806 het 1834.70 102 17 39634625 . A G 1834.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DP=102;Dels=0.00;FS=2.760;HRun=1;HaplotypeScore=4.3612;MQ=59.11;MQ0=0;MQRankSum=-1.536;QD=17.99;ReadPosRankSum=0.386;VQSLOD=4.0815;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,63:102:99:1865,0,1068 17 39637244 39637244 A G exonic KRT35 nonsynonymous SNV KRT35:NM_002280:exon1:c.T106C:p.S36P 0.57 0.74 0.56 0.33 0.54 0.65 0.5732 0.7011 0.6327 0.3535 0.5476 0.5531 0.5402 0.6626 0.6 0.71 0.55 0.59 0.56 rs743686 . . . . . . . . . . . . . 0.037 0.465 D 0.999 0.764 D 0.933 0.651 D 0.027 0.259 N 0.221 0.342 P 2.485 0.726 M -1.58 0.821 D -1.59 0.383 N 0.48 0.529 -0.853 0.518 T 0.000 0.000 T . . . 3.996 0.537 23.6 0.999 0.936 0.381 0.257 N c 0.319 0.235 0.003 0.098 0.497 0.185 0 5.31 0.750 0.132 0.156 1.199 0.960 0.028 0.201 1.000 0.888 9.117 0.357 . ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3 Esophagus_Muscularis|Nerve_Tibial|Testis 0.5666 0.7033 0.6050 0.5511 0.3506 0.5370 0.5507 0.5782 0.6594 0.5819 0.7066 0.5769 0.5530 0.3480 0.5419 0.5449 0.5811 het 1309.20 98 17 39637244 . A G 1309.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.089;DP=98;Dels=0.00;FS=14.783;HRun=1;HaplotypeScore=2.5367;MQ=58.38;MQ0=0;MQRankSum=-0.609;QD=13.36;ReadPosRankSum=-2.013;VQSLOD=2.9693;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,56:98:99:1339,0,1086 17 39643646 39643646 G A exonic KRT36 nonsynonymous SNV KRT36:NM_003771:exon5:c.C944T:p.T315M 0.48 0.4 0.54 0.33 0.54 0.65 0.5506 0.4105 0.6234 0.3511 0.5470 0.5561 0.5395 0.6706 0.5 0.41 0.55 0.51 0.55 rs2301354 . . . . . . . . . . . . . 0.002 0.721 D 0.818 0.437 P 0.36 0.414 B 0.041 0.240 N 1.000 0.218 P 2.72 0.798 M -2.5 0.892 D -4.9 0.815 D 0.078 0.069 -0.929 0.443 T 0.000 0.000 T . . . 5.008 0.674 25.1 0.993 0.580 0.210 0.210 N c -0.077 -0.168 0.019 0.131 0.598 0.340 0 1.13 0.197 -0.646 0.055 -0.291 0.083 0.000 0.063 0.141 0.202 17.877 0.887 . ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3|ENSG00000108759.3 Esophagus_Muscularis|Nerve_Tibial|Prostate|Testis 0.5469 0.4040 0.5911 0.5524 0.3486 0.5296 0.5529 0.5660 0.6662 0.4976 0.4118 0.5622 0.5563 0.3422 0.5347 0.5464 0.5662 het 734.94 71 17 39643646 . G A 734.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.268;DP=71;Dels=0.00;FS=6.881;HRun=0;HaplotypeScore=1.5770;MQ=59.15;MQ0=0;MQRankSum=2.458;QD=10.35;ReadPosRankSum=0.646;VQSLOD=4.3201;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,27:71:99:765,0,1203 17 39646021 39646021 A G exonic KRT36 synonymous SNV KRT36:NM_003771:exon1:c.T96C:p.R32R 0.77 0.77 0.72 0.74 0.71 0.88 0.7519 0.7508 0.7861 0.7472 0.6273 0.7298 0.7339 0.8712 0.73 0.74 0.73 0.78 0.73 rs1003842 COSM4130051 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7466 0.7477 0.7695 0.7260 0.7440 0.6286 0.7311 0.7565 0.8686 0.7250 0.7552 0.7410 0.7318 0.7528 0.6297 0.7241 0.7495 het 1081.55 74 17 39646021 . A G 1081.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.721;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8121;MQ=59.75;MQ0=0;MQRankSum=-2.491;QD=14.62;ReadPosRankSum=-1.171;VQSLOD=4.4729;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,44:74:99:1112,0,803 17 39659194 39659194 T C exonic KRT13 nonsynonymous SNV KRT13:NM_002274:exon4:c.A892G:p.T298A,KRT13:NM_153490:exon4:c.A892G:p.T298A 0.9 0.67 0.97 1. 0.99 0.98 0.9685 0.7379 0.9808 0.9993 1 0.9943 0.9747 0.9718 0.92 0.76 0.99 0.85 0.95 rs4796697 . . . . . . . . . . . . . 0.142 0.254 T 0.004 0.135 B 0.012 0.212 B 0.425 0.047 N 1 0.090 P 1 0.253 L -1.05 0.767 T -0.31 0.123 N 0.091 0.089 -0.964 0.384 T 0.000 0.000 T . . . -0.898 0.036 0.026 0.537 0.049 0.045 0.099 N c -1.557 -1.608 0.035 0.142 0.497 0.185 0 -3.22 0.048 -1.721 0.020 -1.872 0.006 0.000 0.063 0.030 0.147 1.056 0.015 . . . 0.9733 0.7307 0.9786 0.9884 0.9995 0.9998 0.9946 0.9763 0.9712 0.9239 0.7413 0.9797 0.9934 0.9994 0.9997 0.9960 0.9816 hom 8439.25 249 17 39659194 . T C 8439.25 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1526;MQ=58.79;MQ0=0;QD=33.89;VQSLOD=9.5057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:8438,695,0 17 39661689 39661689 G A exonic KRT13 synonymous SNV KRT13:NM_002274:exon1:c.C114T:p.S38S,KRT13:NM_153490:exon1:c.C114T:p.S38S 0.85 0.63 0.91 0.97 0.93 0.92 0.9248 0.6986 0.9496 0.9676 0.9654 0.9473 0.9289 0.9201 0.87 0.72 0.94 0.81 0.95 rs8182306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9294 0.6901 0.9495 0.9244 0.9681 0.9647 0.9473 0.9237 0.9172 0.8793 0.6970 0.9344 0.9238 0.9630 0.9671 0.9478 0.9409 hom 4113.24 128 17 39661689 . G A 4113.24 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0752;MQ=59.26;MQ0=0;QD=32.13;VQSLOD=9.3917;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:128:99:4113,325,0 17 39670912 39670912 G C exonic KRT15 nonsynonymous SNV KRT15:NM_002275:exon7:c.C1262G:p.A421G 0.97 0.9 0.99 1. 1. 1. 0.9915 0.9057 0.9967 1 1 0.9998 0.9956 0.9999 0.97 0.92 1. 0.98 0.98 rs897420 . . . . . . . . . . . . . 0.537 0.094 T 0.0 0.067 B 0.001 0.040 B 0.384 0.133 N 1 0.090 P 0 0.065 N -1.51 0.814 D 0.23 0.046 N 0.02 0.149 -0.971 0.370 T 0.000 0.000 T . . . -0.210 0.075 1.048 0.267 0.013 0.001 0.006 N c -0.979 -0.923 0.805 0.242 0.554 0.283 0 3.22 0.359 0.549 0.229 0.067 0.174 0.595 0.275 0.024 0.140 10.635 0.446 . . . 0.9932 0.9012 0.9963 1 1 1 0.9998 0.9967 0.9999 0.9724 0.9045 0.9940 1 1 1 0.9995 0.9929 hom 3061.87 98 17 39670912 . G C 3061.87 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;QD=31.24;VQSLOD=9.2821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,97:98:99:3095,235,0 17 39671724 39671724 T C exonic KRT15 nonsynonymous SNV KRT15:NM_002275:exon6:c.A1247G:p.K416R 0.13 0.2 0.14 0.057 0.21 0.04 0.1695 0.2025 0.0893 0.0544 0.2033 0.2187 0.1659 0.0532 0.22 0.21 0.23 0.14 0.14 rs2305556 COSM3755536 1(breast);1(large_intestine) . . . . . . . . . . . 0.163 0.234 T 0.001 0.067 B 0.013 0.154 B 0.003 0.356 N 0.979 0.252 P 1.03 0.257 L -1.5 0.813 D -0.24 0.125 N 0.031 0.019 -1.103 0.038 T 0.000 0.000 T . . . 2.136 0.318 17.09 0.993 0.578 0.042 0.095 N c -0.539 -0.456 0.982 0.303 0.615 0.372 0 2.51 0.293 -0.578 0.059 0.141 0.225 0.000 0.063 0.908 0.386 1.977 0.032 . ENSG00000226629.1 Adipose_Visceral_Omentum 0.1676 0.2041 0.0950 0.2085 0.0574 0.2032 0.2224 0.1656 0.0542 0.2014 0.2067 0.1169 0.22 0.0618 0.2026 0.2199 0.1640 het 2021.94 153 17 39671724 . T C 2021.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.025;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3913;MQ=59.85;MQ0=0;MQRankSum=2.263;QD=13.22;ReadPosRankSum=-0.195;VQSLOD=5.5898;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,73:153:99:2052,0,2349 17 39681475 39681475 A G exonic KRT19 synonymous SNV KRT19:NM_002276:exon2:c.T471C:p.N157N 0.73 0.59 0.79 0.91 0.65 0.78 0.6857 0.5847 0.7855 0.9192 0.6370 0.6401 0.6784 0.7616 0.62 0.59 0.64 0.65 0.76 rs4601 . . not provided not_provided RCV000056946.1 MedGen CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6910 0.5826 0.7878 0.6576 0.9161 0.6362 0.6359 0.6979 0.7620 0.6357 0.5786 0.7685 0.6689 0.9183 0.6347 0.6285 0.6673 het 2589.34 233 17 39681475 . A G 2589.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.725;DP=233;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0465;MQ=57.93;MQ0=0;MQRankSum=-0.832;QD=11.11;ReadPosRankSum=-1.109;VQSLOD=3.0118;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,108:233:99:2619,0,3201 17 39684410 39684410 G A exonic KRT19 synonymous SNV KRT19:NM_002276:exon1:c.C90T:p.A30A 0.68 0.42 0.77 0.92 0.64 0.79 0.6890 0.4751 0.7910 0.9197 0.6529 0.6455 0.6823 0.7659 0.59 0.48 0.64 0.56 0.46 rs11550883 COSM436587 1(thyroid);11(large_intestine) not provided not_provided RCV000056950.1 MedGen CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6838 0.4440 0.7780 0.6474 0.9177 0.6374 0.6313 0.6868 0.7608 0.5935 0.4435 0.7590 0.66 0.9213 0.6303 0.6218 0.6578 het 330.36 20 17 39684410 . G A 330.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.656;DP=20;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9734;MQ=60.00;MQ0=0;MQRankSum=0.656;QD=16.52;ReadPosRankSum=0.579;VQSLOD=6.0295;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:360,0,232 17 39723990 39723990 T A exonic KRT9 synonymous SNV KRT9:NM_000226:exon7:c.A1407T:p.G469G 0.65 0.39 0.71 0.94 0.56 0.74 0.6241 0.3977 0.7920 0.9445 0.6612 0.5660 0.5861 0.7028 0.5 0.4 0.55 0.59 0.48 rs3890472 COSM1179685 1(prostate) Likely benign Epidermolytic_palmoplantar_keratoderma RCV000306817.1 MedGen:OMIM:Orphanet C1721006:144200:ORPHA2199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6341 0.3859 0.7735 0.5832 0.9421 0.6604 0.5600 0.5939 0.7000 0.5511 0.3830 0.7386 0.5728 0.9424 0.6527 0.5683 0.6071 het 1220.12 91 17 39723990 . T A 1220.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.901;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=0.811;QD=13.41;ReadPosRankSum=0.391;VQSLOD=6.8211;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,47:91:99:1250,0,1202 17 39728050 39728050 G A exonic KRT9 synonymous SNV KRT9:NM_000226:exon1:c.C195T:p.G65G 0.78 0.64 0.77 1. 0.67 0.87 0.7292 0.6353 0.8398 0.9990 0.7175 0.6624 0.7074 0.8431 0.64 0.63 0.64 0.74 0.66 rs8070680 COSM5034163 1(skin) Likely benign Epidermolytic_palmoplantar_keratoderma RCV000399704.1 MedGen:OMIM:Orphanet C1721006:144200:ORPHA2199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7333 0.6256 0.8264 0.7023 0.9995 0.7117 0.6561 0.7001 0.8409 0.6776 0.6184 0.8126 0.6854 0.9963 0.7067 0.6605 0.7089 het 467.94 52 17 39728050 . G A 467.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DP=52;Dels=0.00;FS=1.142;HRun=0;HaplotypeScore=4.3386;MQ=56.89;MQ0=0;MQRankSum=0.307;QD=9.00;ReadPosRankSum=0.782;VQSLOD=3.6937;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,20:52:99:498,0,757 17 39742899 39742899 C T exonic KRT14 nonsynonymous SNV KRT14:NM_000526:exon1:c.G188A:p.C63Y 0.99 0.97 1. 1. 1. 1. 0.9971 0.9787 0.9982 0.9989 0.9988 0.9987 0.9985 0.9998 . . . 0.37 0.66 rs6503640 COSM4591211 23(upper_aerodigestive_tract) not provided not_provided RCV000056696.1 MedGen CN221809 . . . . . . 0.091 0.318 T 0.0 0.026 B 0.0 0.013 B 0.037 0.244 N 1 0.090 P 0.9 0.233 L -2.24 0.872 D -1.81 0.425 N 0.178 0.217 -1.013 0.260 T 0.000 0.000 T . . . 0.348 0.127 6.145 0.533 0.048 0.168 0.193 N c -1.672 -1.701 1.000 0.418 0.497 0.185 0 -1.0 0.096 -1.950 0.016 -2.757 0.002 0.000 0.063 0.049 0.163 4.741 0.123 . . . 0.9985 0.9807 0.9990 1 0.9998 0.9997 0.9996 0.9994 0.9998 0.9945 0.9813 0.9976 1 1 1 0.9997 1 hom 397.14 15 17 39742899 . C T 397.14 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.32;MQ0=1;QD=26.48;VQSLOD=6.3621;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,14:15:36.08:430,36,0 17 39743081 39743081 G A exonic KRT14 synonymous SNV KRT14:NM_000526:exon1:c.C6T:p.T2T 0.68 0.48 0.72 0.94 0.58 0.75 0.6715 0.5384 0.8048 0.9444 0.6805 0.6073 0.6449 0.7234 0.55 0.51 0.57 0.6 . rs11551759 COSM3755539 1(thyroid);1(large_intestine) Benign not_specified RCV000245454.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6402 0.4566 0.7724 0.5527 0.9436 0.6596 0.5535 0.5930 0.7128 0.5831 0.4710 0.7530 0.5331 0.9425 0.6592 0.5798 0.6329 het 156.96 12 17 39743081 . G A 156.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.378;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.12;MQ0=0;MQRankSum=-0.467;QD=13.08;ReadPosRankSum=1.813;VQSLOD=5.6034;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:187,0,148 17 39767744 39767744 A G exonic KRT16 synonymous SNV KRT16:NM_005557:exon3:c.T624C:p.H208H 0.77 0.72 0.76 1. 0.61 0.79 0.6833 0.7164 0.8113 0.9986 0.6904 0.5985 0.6322 0.7495 0.63 0.71 0.59 0.79 0.58 rs4796681 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6854 0.7084 0.8013 0.6005 0.9988 0.6836 0.5921 0.6312 0.7488 0.6679 0.6995 0.7859 0.5973 0.9963 0.6760 0.6073 0.6598 het 2054.33 123 17 39767744 . A G 2054.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.173;DP=123;Dels=0.00;FS=13.381;HRun=0;HaplotypeScore=3.1324;MQ=59.26;MQ0=0;MQRankSum=0.632;QD=16.70;ReadPosRankSum=0.340;VQSLOD=3.2603;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,71:123:99:2084,0,1412 17 39871700 39871700 G A exonic GAST synonymous SNV GAST:NM_000805:exon2:c.G12A:p.L4L 0.85 0.72 0.82 0.9 0.89 0.94 0.8516 0.7504 0.7411 0.8882 0.7969 0.8719 0.8910 0.9113 0.84 0.76 0.88 0.79 0.93 rs7220169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8485 0.7523 0.7509 0.9107 0.8867 0.7917 0.8731 0.8685 0.9095 0.8222 0.7531 0.7715 0.8841 0.8925 0.8082 0.8586 0.8378 hom 8282.02 250 17 39871700 . G A 8282.02 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9684;MQ=59.42;MQ0=0;QD=33.13;VQSLOD=6.7856;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8281,689,0 17 39881289 39881289 G C exonic HAP1 nonsynonymous SNV HAP1:NM_001079870:exon10:c.C1473G:p.F491L,HAP1:NM_001079871:exon10:c.C1449G:p.F483L,HAP1:NM_177977:exon11:c.C1524G:p.F508L 0.9 0.91 0.83 0.9 0.89 0.94 0.8668 0.9187 0.7502 0.8834 0.7972 0.8724 0.8951 0.9113 0.89 0.92 0.88 0.86 0.95 rs8075017 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.715 0.063 N 1.000 0.090 P -0.46 0.027 N 1.8 0.272 T 2.83 0.020 N 0.01 0.023 -0.960 0.393 T 0.000 0.000 T . . . -0.979 0.033 0.018 0.458 0.036 0.000 0.001 N c -1.784 -1.763 0.000 0.057 0.646 0.450 0 -1.63 0.079 -1.925 0.016 -0.514 0.050 0.000 0.063 0.001 0.043 0.225 0.002 . ENSG00000173805.11|ENSG00000173805.11|ENSG00000173805.11 Adipose_Subcutaneous|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8605 0.9194 0.7610 0.9105 0.8806 0.7930 0.8737 0.8737 0.9099 0.8706 0.9213 0.7873 0.8859 0.8860 0.8075 0.8601 0.8443 hom 8644.76 249 17 39881289 . G C 8644.76 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=59.12;MQ0=0;QD=34.72;VQSLOD=9.0393;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8644,689,0 17 39883350 39883350 G A exonic HAP1 nonsynonymous SNV HAP1:NM_001079870:exon8:c.C1271T:p.T424M,HAP1:NM_001079871:exon8:c.C1247T:p.T416M,HAP1:NM_177977:exon9:c.C1322T:p.T441M 0.2 0.012 0.2 0.25 0.23 0.36 0.3240 0.0585 0.4018 0.3080 0.4085 0.3269 0.3587 0.3877 0.16 0.044 0.22 0.18 0.17 rs4523977 COSM4985792;COSM4985791 4(soft_tissue) . . . . . . . . . . . 0.654 0.126 T 0.44 0.341 B 0.037 0.218 B 0.800 0.068 N 1 0.090 P -0.145 0.044 N 3.22 0.070 T -1.39 0.344 N 0.019 0.062 -0.902 0.478 T 0.000 0.000 T . . . -0.652 0.047 0.093 0.568 0.055 0.009 0.035 N c -1.449 -1.531 0.042 0.145 0.615 0.372 0 -4.26 0.035 -0.837 0.044 -0.335 0.073 0.000 0.063 0.020 0.134 5.319 0.151 HAP1\x2c N-terminal . . 0.2341 0.0350 0.2391 0.2512 0.2137 0.2684 0.2238 0.2257 0.3407 0.1756 0.0442 0.2237 0.2667 0.2121 0.2760 0.2162 0.2382 het 182.37 15 17 39883350 . G A 182.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.062;DP=15;Dels=0.00;FS=5.426;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.059;QD=12.16;ReadPosRankSum=0.648;VQSLOD=5.9080;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,9:15:99:212,0,162 17 39884065 39884065 C A exonic HAP1 nonsynonymous SNV HAP1:NM_177977:exon8:c.G1224T:p.L408F 0.24 0.18 0.25 0.19 0.4 0.18 0.3041 0.2003 0.1791 0.1894 0.2829 0.3837 0.3199 0.2034 0.33 0.21 0.39 0.15 0.39 rs35612698 COSM4130063;COSM4130064 1(thyroid) . . . . . . . . . . . 0.003 0.682 D 0.99 0.615 D 0.901 0.622 P . . . 0.000 0.588 P 3.015 0.864 M 1.3 0.356 T -3.6 0.693 D 0.156 0.186 -0.976 0.360 T 0.000 0.000 T . . . 3.704 0.502 23.3 0.999 0.938 0.330 0.245 N c 0.323 0.183 0.000 0.029 0.516 0.203 0 1.28 0.206 0.204 0.170 0.831 0.339 0.111 0.228 0.504 0.271 3.458 0.070 HAP1\x2c N-terminal . . 0.3020 0.1975 0.1927 0.3582 0.1903 0.2819 0.3920 0.3383 0.2001 0.2997 0.2001 0.2291 0.3433 0.2084 0.2871 0.3743 0.2898 het 675.20 83 17 39884065 . C A 675.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.618;DP=83;Dels=0.00;FS=10.418;HRun=2;HaplotypeScore=4.9216;MQ=59.70;MQ0=0;MQRankSum=-0.640;QD=8.13;ReadPosRankSum=-1.484;VQSLOD=2.8827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,29:83:99:705,0,1362 17 39884583 39884583 G A exonic HAP1 nonsynonymous SNV HAP1:NM_001079870:exon7:c.C1094T:p.S365L,HAP1:NM_001079871:exon7:c.C1070T:p.S357L,HAP1:NM_177977:exon7:c.C1070T:p.S357L 0.77 0.54 0.79 0.9 0.8 0.92 0.7759 0.5626 0.7522 0.8957 0.7336 0.7784 0.7955 0.8659 0.72 0.58 0.79 0.77 0.77 rs4796693 COSM3755543;COSM3755544 1(large_intestine) . . . . . . . . . . . 0.23 0.198 T 0.981 0.629 D 0.458 0.526 P 0.066 0.218 N 0.000 0.588 P 2.275 0.649 M 2.2 0.186 T -2.48 0.540 N 0.102 0.256 -0.982 0.345 T 0.000 0.000 T . . . 1.699 0.265 14.40 0.985 0.413 0.566 0.299 D c -0.516 -0.612 0.019 0.131 0.713 0.819 0 1.07 0.193 1.003 0.292 -0.278 0.085 0.830 0.299 0.242 0.226 7.269 0.253 HAP1\x2c N-terminal ENSG00000108771.8|ENSG00000173805.11 Spleen|Thyroid 0.7776 0.5570 0.7512 0.7353 0.8919 0.7367 0.7860 0.7798 0.8632 0.7119 0.5592 0.7685 0.7119 0.8957 0.7327 0.7697 0.7587 hom 2135.33 72 17 39884583 . G A 2135.33 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=59.36;MQ0=0;QD=29.66;VQSLOD=8.9381;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2168,180,0 17 39890715 39890715 A T exonic HAP1 nonsynonymous SNV HAP1:NM_001079870:exon1:c.T172A:p.S58T,HAP1:NM_001079871:exon1:c.T172A:p.S58T,HAP1:NM_177977:exon1:c.T172A:p.S58T 0.77 0.5 0.81 0.9 0.82 0.92 0.7927 0.5357 0.7693 0.8938 0.7757 0.8029 0.8112 0.8689 0.72 0.55 0.81 0.76 0.8 rs4796603 COSM4130066;COSM4130065 1(thyroid) . . . . . . . . . . . 0.391 0.125 T 0.673 0.453 P 0.451 0.443 P . . . 1.000 0.189 P 1.04 0.263 L 2.98 0.094 T -0.28 0.117 N 0.011 0.008 -1.003 0.290 T 0.000 0.000 T . . . 1.630 0.257 14.02 0.975 0.338 0.103 0.157 N c -0.779 -0.951 1.000 0.439 0.652 0.477 0 1.1 0.195 0.616 0.239 1.028 0.649 0.003 0.159 0.004 0.083 4.395 0.107 . ENSG00000173805.11|ENSG00000173805.11 Skin_Sun_Exposed_Lower_leg|Thyroid 0.7932 0.5178 0.7644 0.7692 0.8901 0.7738 0.8089 0.7972 0.8667 0.7173 0.5226 0.7864 0.7450 0.8957 0.7748 0.7897 0.7760 hom 965.51 31 17 39890715 . A T 965.51 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.79;MQ0=0;QD=31.15;VQSLOD=8.5625;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:81.24:999,81,0 17 39890876 39890876 T C exonic HAP1 nonsynonymous SNV HAP1:NM_001079870:exon1:c.A11G:p.K4R,HAP1:NM_001079871:exon1:c.A11G:p.K4R,HAP1:NM_177977:exon1:c.A11G:p.K4R 0.55 0.29 0.6 0.71 0.5 0.74 0.5886 0.3532 0.6720 0.7282 0.5842 0.5474 0.5730 0.7061 0.39 0.28 0.45 0.53 0.21 rs4796604 COSM3749402;COSM3749401 8(large_intestine) . . . . . . . . . . . 0.453 0.099 T 0.004 0.112 B 0.007 0.121 B . . . 1.000 0.090 P 1.095 0.275 L 2.74 0.117 T -0.06 0.079 N 0.019 0.009 -1.014 0.258 T 0.000 0.000 T . . . 1.253 0.216 12.03 0.977 0.348 0.039 0.091 N c -1.360 -1.390 1.000 0.747 0.437 0.062 0 0.545 0.163 -0.060 0.116 -0.424 0.059 0.000 0.063 0.000 0.016 4.831 0.127 . ENSG00000173805.11 Thyroid 0.5516 0.3123 0.6141 0.4478 0.7037 0.5387 0.5055 0.5306 0.6751 0.4630 0.3131 0.5993 0.4470 0.6853 0.5241 0.4999 0.5368 het 62.22 10 17 39890876 . T C 62.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.633;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.99;MQ0=0;MQRankSum=2.383;QD=6.22;ReadPosRankSum=0.365;VQSLOD=4.4461;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:92.22:92,0,131 17 39912145 39912145 T A exonic JUP nonsynonymous SNV JUP:NM_002230:exon14:c.A2089T:p.M697L,JUP:NM_021991:exon14:c.A2089T:p.M697L 0.59 0.57 0.52 0.35 0.74 0.74 0.6592 0.6037 0.4306 0.3439 0.6698 0.7291 0.6558 0.7361 0.7 0.61 0.74 0.61 0.73 rs1126821 . . other|Benign|Benign|Likely benign Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC RCV000020467.2|RCV000039075.5|RCV000251926.1|RCV000351947.1 MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen C1832600:601214:ORPHA34217|CN169374|CN230736|CN239181 . . . . . . 0.706 0.041 T 0.0 0.026 B 0.0 0.013 B 0.081 0.209 N 0.817 0.588 P -0.625 0.021 N 0.31 0.586 T -0.08 0.082 N 0.095 0.112 -0.959 0.394 T 0.000 0.000 T . . . 1.242 0.214 11.97 0.691 0.086 0.683 0.335 D c -0.560 -0.403 0.000 0.052 0.707 0.730 0 1.12 0.196 1.029 0.295 1.061 0.807 1.000 0.715 0.998 0.697 12.111 0.530 . . . 0.6478 0.5978 0.4460 0.6982 0.3377 0.6533 0.7357 0.6635 0.7329 0.6634 0.6017 0.4880 0.6821 0.3202 0.6645 0.7421 0.7119 hom 1508.76 51 17 39912145 . T A 1508.76 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=29.58;VQSLOD=7.7502;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1542,117,0 17 39925925 39925925 A G exonic JUP synonymous SNV JUP:NM_002230:exon3:c.T213C:p.D71D,JUP:NM_021991:exon3:c.T213C:p.D71D 0.72 0.89 0.57 0.52 0.75 0.74 0.7364 0.8888 0.5461 0.5325 0.7068 0.7622 0.7446 0.7603 0.8 0.87 0.76 0.75 0.73 rs7405731 . . Benign|Benign|Likely benign|Likely benign not_specified|Cardiovascular_phenotype|Cardiomyopathy\x2c_ARVC|Naxos_disease RCV000039076.3|RCV000248512.1|RCV000293241.1|RCV000350569.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet CN169374|CN230736|CN239181|C1832600:601214:ORPHA34217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7109 0.8884 0.5214 0.8254 0.5099 0.6806 0.7581 0.7264 0.7585 0.7654 0.8828 0.5632 0.8278 0.5056 0.6822 0.7567 0.7305 hom 668.53 22 17 39925925 . A G 668.53 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=30.39;VQSLOD=9.2220;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:54.17:702,54,0 17 39967442 39967442 T C exonic P3H4 nonsynonymous SNV P3H4:NM_006455:exon2:c.A557G:p.Q186R 0.37 0.23 0.45 0.45 0.35 0.43 0.3741 0.2500 0.5430 0.4575 0.4705 0.3423 0.3687 0.3801 0.32 0.25 0.35 0.27 0.34 rs13412 COSM1750031 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 0.619 0.053 T 0.0 0.026 B 0.0 0.013 B 0.000 0.452 N 1.000 0.186 P -0.83 0.015 N 1.3 0.356 T 1.07 0.013 N 0.014 0.002 -0.919 0.457 T 0.000 0.000 T . . . 0.481 0.140 7.284 0.629 0.069 0.282 0.233 N c -1.003 -0.791 1.000 0.747 0.789 0.998 0 2.89 0.326 1.886 0.391 -0.376 0.066 1.000 0.715 0.080 0.181 4.501 0.112 Tetratricopeptide-like helical domain ENSG00000204815.4|ENSG00000141696.8 Testis|Thyroid 0.3803 0.2475 0.5205 0.2070 0.4439 0.4658 0.3457 0.3734 0.3779 0.3507 0.2508 0.4557 0.2185 0.4132 0.4544 0.3720 0.3937 het 3989.37 250 17 39967442 . T C 3989.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.329;DP=250;DS;Dels=0.00;FS=7.181;HRun=4;HaplotypeScore=7.0420;MQ=59.43;MQ0=0;MQRankSum=-0.606;QD=15.96;ReadPosRankSum=-1.696;VQSLOD=3.8084;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:126,124:250:99:3320,0,3640 17 39983808 39983808 G C exonic NT5C3B nonsynonymous SNV NT5C3B:NM_052935:exon8:c.C638G:p.S213C 0.79 0.75 0.86 0.83 0.73 0.79 0.7770 0.7622 0.8919 0.8302 0.6403 0.7590 0.7947 0.8049 0.76 0.76 0.76 0.76 0.71 rs1046404 . . . . . . . . . . . . . 0.031 0.453 D 0.991 0.622 D 0.852 0.590 P 0.000 0.843 D 0.000 0.810 P 2.835 0.828 M -1.57 0.819 D -2.79 0.590 D 0.243 0.370 -0.902 0.478 T 0.000 0.000 T . . . 5.928 0.814 27.6 0.992 0.544 0.992 0.927 D c 0.620 0.604 1.000 0.747 0.719 0.830 0 5.07 0.680 8.070 0.892 1.048 0.713 1.000 0.715 0.825 0.345 18.245 0.899 HAD-like domain ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000161594.6|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000161594.6|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000161594.6|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000161594.6|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000187595.10|ENSG00000161594.6|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000131473.12|ENSG00000259623.1|ENSG00000161594.6|ENSG00000141696.8|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000173801.12|ENSG00000141698.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.7778 0.7671 0.8860 0.8600 0.8270 0.6378 0.7522 0.7743 0.8061 0.7462 0.7653 0.8711 0.8411 0.8309 0.6425 0.7425 0.7251 het 2373.86 231 17 39983808 . G C 2373.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.217;DP=231;Dels=0.00;FS=0.495;HRun=0;HaplotypeScore=0.9958;MQ=58.72;MQ0=0;MQRankSum=1.654;QD=10.28;ReadPosRankSum=-1.558;VQSLOD=5.4174;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:137,94:231:99:2404,0,3873 17 39983820 39983820 G A exonic NT5C3B nonsynonymous SNV NT5C3B:NM_052935:exon8:c.C626T:p.A209V 0.79 0.75 0.86 0.83 0.73 0.79 0.7770 0.7621 0.8919 0.8298 0.6403 0.7590 0.7947 0.8049 0.76 0.76 0.76 0.77 0.7 rs1046403 COSM4130068 1(thyroid) . . . . . . . . . . . 1.0 0.020 T 0.001 0.067 B 0.001 0.040 B 0.004 0.339 N 1.000 0.588 P -0.485 0.027 N -1.38 0.803 T -0.51 0.160 N 0.039 0.572 -0.934 0.436 T 0.000 0.000 T . . . 1.603 0.254 13.87 0.801 0.126 0.507 0.285 D c -0.966 -0.830 0.079 0.158 0.719 0.830 0 2.87 0.324 2.457 0.444 0.239 0.266 0.950 0.328 0.886 0.372 9.327 0.370 HAD-like domain ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000161594.6|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000161594.6|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000161594.6|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000161594.6|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000187595.10|ENSG00000161594.6|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000131473.12|ENSG00000259623.1|ENSG00000161594.6|ENSG00000141696.8|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000173801.12|ENSG00000141698.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.7778 0.7671 0.8861 0.8599 0.8270 0.6378 0.7522 0.7743 0.8061 0.7464 0.7658 0.8720 0.84 0.8307 0.6427 0.7426 0.7251 het 2052.59 228 17 39983820 . G A 2052.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.298;DP=228;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=58.70;MQ0=0;MQRankSum=0.506;QD=9.00;ReadPosRankSum=-1.052;VQSLOD=6.2416;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,87:228:99:2083,0,3795 17 39983849 39983849 G C exonic NT5C3B synonymous SNV NT5C3B:NM_052935:exon8:c.C597G:p.L199L 0.7 0.44 0.85 0.83 0.73 0.79 0.7531 0.4991 0.8829 0.8289 0.6403 0.7586 0.7837 0.8035 0.68 0.51 0.76 0.62 0.66 rs1128966 COSM4130069 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7588 0.4938 0.8756 0.8599 0.8265 0.6377 0.7517 0.7654 0.8045 0.6708 0.5017 0.8580 0.8411 0.8309 0.6423 0.7420 0.7096 het 1880.01 204 17 39983849 . G C 1880.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.372;DP=204;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=6.7036;MQ=58.98;MQ0=0;MQRankSum=-0.048;QD=9.22;ReadPosRankSum=0.931;VQSLOD=3.7962;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,76:204:99:1910,0,3444 17 39987130 39987130 T C exonic NT5C3B synonymous SNV NT5C3B:NM_052935:exon6:c.A327G:p.A109A 0.92 0.84 0.94 1. 0.89 0.96 0.9179 0.8511 0.9437 0.9999 0.8791 0.9104 0.9141 0.9453 0.89 0.85 0.91 0.9 0.98 rs4796712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9176 0.8506 0.9429 0.9256 0.9999 0.8787 0.9074 0.9099 0.9436 0.8931 0.8509 0.9342 0.9139 0.9994 0.8800 0.9056 0.9061 hom 2236.43 76 17 39987130 . T C 2236.43 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.43;VQSLOD=13.7134;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2269,190,0 17 39998141 39998141 C T exonic KLHL10 synonymous SNV KLHL10:NM_152467:exon2:c.C261T:p.P87P,KLHL10:NM_001329595:exon4:c.C261T:p.P87P 0.78 0.7 0.86 0.83 0.74 0.8 0.7827 0.7274 0.8937 0.8242 0.6434 0.7695 0.8078 0.8237 0.76 0.74 0.77 0.73 0.7 rs1529933 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7832 0.7279 0.8867 0.8751 0.8212 0.6402 0.7629 0.7817 0.8248 0.7428 0.7283 0.8720 0.8576 0.8241 0.6472 0.7560 0.7312 het 3021.11 195 17 39998141 . C T 3021.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.575;DP=195;Dels=0.00;FS=1.793;HRun=0;HaplotypeScore=7.1539;MQ=59.57;MQ0=0;MQRankSum=0.300;QD=15.49;ReadPosRankSum=0.983;VQSLOD=4.5420;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,110:195:99:3051,0,2137 17 40010979 40010979 G A exonic KLHL11 synonymous SNV KLHL11:NM_018143:exon2:c.C1140T:p.Y380Y 0.78 0.71 0.86 0.83 0.74 0.8 0.7823 0.7278 0.8935 0.8240 0.6434 0.7692 0.8084 0.8241 0.76 0.73 0.77 0.73 0.7 rs3744782 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7833 0.7285 0.8867 0.8751 0.8212 0.6404 0.7628 0.7813 0.8248 0.7429 0.7295 0.8720 0.8576 0.8239 0.6468 0.7556 0.7305 het 2191.17 200 17 40010979 . G A 2191.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.342;DP=200;DS;Dels=0.00;FS=4.964;HRun=3;HaplotypeScore=4.9853;MQ=59.27;MQ0=0;MQRankSum=-0.496;QD=10.96;ReadPosRankSum=-0.614;VQSLOD=4.8444;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,88:200:99:2221,0,3210 17 40048613 40048613 A G exonic ACLY synonymous SNV ACLY:NM_001303275:exon15:c.T1821C:p.H607H,ACLY:NM_198830:exon15:c.T1659C:p.H553H,ACLY:NM_001096:exon16:c.T1689C:p.H563H,ACLY:NM_001303274:exon16:c.T1851C:p.H617H 0.9 0.77 0.93 1. 0.9 0.98 0.9216 0.7844 0.9465 0.9999 0.8819 0.9219 0.9273 0.9638 0.88 0.79 0.92 0.91 0.97 rs8065502 COSM4130073 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9229 0.7832 0.9451 0.9410 0.9999 0.8815 0.9193 0.9165 0.9631 0.8819 0.7832 0.9296 0.9305 0.9994 0.8842 0.9204 0.9092 hom 3161.35 101 17 40048613 . A G 3161.35 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8656;MQ=59.53;MQ0=0;QD=31.30;VQSLOD=9.2873;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3194,253,0 17 40065774 40065774 T G exonic ACLY nonsynonymous SNV ACLY:NM_001096:exon5:c.A525C:p.E175D,ACLY:NM_001303274:exon5:c.A687C:p.E229D,ACLY:NM_001303275:exon5:c.A687C:p.E229D,ACLY:NM_198830:exon5:c.A525C:p.E175D 0.094 0.11 0.052 0.06 0.11 0.12 0.1039 0.0983 0.0374 0.0614 0.1798 0.1134 0.0820 0.1090 0.11 0.096 0.11 0.2 0.16 rs2304497 . . . . . . . . . . . . . 0.791 0.032 T 0.0 0.026 B 0.0 0.013 B 0.422 0.128 N 1.000 0.508 P -0.345 0.033 N -0.42 0.695 T -0.56 0.170 N 0.02 0.007 -1.058 0.121 T 0.001 0.004 T . . . -0.824 0.039 0.038 0.674 0.081 0.151 0.185 N c -1.571 -1.579 1.000 0.747 0.672 0.522 0 -7.37 0.013 -1.128 0.033 -0.756 0.034 0.000 0.063 0.699 0.309 5.213 0.146 ATP-grasp fold\x2c subdomain 2 ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141756.14|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000141698.12|ENSG00000131473.12|ENSG00000259623.1|ENSG00000161594.6|ENSG00000141696.8|ENSG00000141698.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.1021 0.1015 0.0413 0.0394 0.0606 0.1773 0.1167 0.0960 0.1058 0.1134 0.0967 0.0418 0.0331 0.0623 0.1758 0.1187 0.1291 het 1411.64 133 17 40065774 . T G 1411.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.512;DP=133;Dels=0.00;FS=11.710;HRun=0;HaplotypeScore=0.9894;MQ=59.09;MQ0=0;MQRankSum=-0.237;QD=10.61;ReadPosRankSum=0.498;VQSLOD=4.5459;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,62:133:99:1442,0,1957 17 40094835 40094835 C T exonic TTC25 unknown UNKNOWN 0.17 0.21 0.092 0.16 0.18 0.19 0.1694 0.2095 0.0648 0.1672 0.2520 0.1742 0.1398 0.1695 0.18 0.2 0.17 0.2 . rs3809878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1672 0.2112 0.0719 0.1110 0.1720 0.2540 0.1770 0.1602 0.1679 0.1949 0.2080 0.0728 0.1093 0.1731 0.2511 0.1845 0.2055 het 2685.22 206 17 40094835 . C T 2685.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.665;DP=206;Dels=0.00;FS=11.674;HRun=0;HaplotypeScore=3.1987;MQ=59.07;MQ0=0;MQRankSum=0.228;QD=13.04;ReadPosRankSum=0.259;VQSLOD=4.6797;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:98,107:206:99:2715,0,2638 17 40125864 40125864 G A exonic CNP synonymous SNV CNP:NM_001330216:exon4:c.G1128A:p.G376G,CNP:NM_033133:exon4:c.G1188A:p.G396G 0.28 0.076 0.24 0.42 0.28 0.42 0.3091 0.1027 0.2103 0.4103 0.2325 0.3264 0.3278 0.4179 0.25 0.1 0.32 0.27 0.34 rs2070106 COSM3755547;COSM3755546 1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3046 0.0954 0.2224 0.4166 0.4155 0.2391 0.3214 0.2970 0.3922 0.2499 0.1001 0.2488 0.4 0.4126 0.2415 0.3167 0.2812 het 413.01 40 17 40125864 . G A 413.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.228;DP=40;Dels=0.00;FS=4.763;HRun=0;HaplotypeScore=0.7340;MQ=58.00;MQ0=0;MQRankSum=1.614;QD=10.33;ReadPosRankSum=0.575;VQSLOD=4.8798;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,17:40:99:443,0,600 17 40266939 40266939 G A exonic KAT2A synonymous SNV KAT2A:NM_021078:exon13:c.C1990T:p.L664L 0.022 0.003 0.016 . 0.089 0.0051 0.0532 0.0123 0.0194 0.0003 0.1232 0.0757 0.0551 0.0111 0.053 0.015 0.072 0.033 0.098 rs17659391 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0521 0.0116 0.0183 0.0237 0.0001 0.1221 0.0754 0.0584 0.0109 0.0612 0.0141 0.0239 0.0265 0 0.1160 0.0830 0.0947 het 4049.66 250 17 40266939 . G A 4049.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.986;DP=250;DS;Dels=0.00;FS=3.179;HRun=1;HaplotypeScore=9.3424;MQ=59.14;MQ0=0;MQRankSum=0.495;QD=16.20;ReadPosRankSum=-0.156;VQSLOD=3.9590;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:121,129:250:99:3414,0,3360 17 40322252 40322252 T C exonic KCNH4 synonymous SNV KCNH4:NM_012285:exon8:c.A1263G:p.S421S 0.17 0.06 0.14 0.35 0.082 0.24 0.1393 0.0750 0.1513 0.3676 0.1315 0.0965 0.1313 0.2253 0.083 0.068 0.09 0.12 0.15 rs939881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1416 0.0746 0.1525 0.1142 0.3699 0.1303 0.0952 0.1241 0.2216 0.1092 0.0720 0.1343 0.1291 0.3773 0.1252 0.0944 0.1385 het 447.07 44 17 40322252 . T C 447.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.458;DP=44;Dels=0.00;FS=1.235;HRun=0;HaplotypeScore=2.6548;MQ=57.72;MQ0=0;MQRankSum=-0.622;QD=10.16;ReadPosRankSum=0.552;VQSLOD=4.5078;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:477,0,502 17 40632729 40632729 C T exonic ATP6V0A1 synonymous SNV ATP6V0A1:NM_001130020:exon8:c.C699T:p.G233G,ATP6V0A1:NM_001130021:exon8:c.C678T:p.G226G,ATP6V0A1:NM_005177:exon8:c.C678T:p.G226G 0.018 0.0076 0.026 . 0.037 0.024 0.0365 0.0114 0.0195 0.0012 0.0960 0.0435 0.0377 0.0303 0.031 0.012 0.041 0.022 0.041 rs41283429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0370 0.0101 0.0209 0.0266 0.0006 0.0932 0.0425 0.0462 0.0293 0.0362 0.0105 0.0227 0.0265 0.0006 0.0920 0.0420 0.0520 het 1658.58 122 17 40632729 . C T 1658.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.429;DP=122;Dels=0.00;FS=8.848;HRun=0;HaplotypeScore=1.8455;MQ=59.20;MQ0=0;MQRankSum=1.827;QD=13.59;ReadPosRankSum=-0.747;VQSLOD=3.7352;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,71:122:99:1689,0,1321 17 40689455 40689455 T C exonic NAGLU synonymous SNV NAGLU:NM_000263:exon2:c.T423C:p.S141S 1. 1. 1. 1. 0.99 1. 0.9947 0.9989 0.9971 1 0.9941 0.9922 0.9978 0.9979 0.99 1. 0.99 0.99 0.98 rs659497 . . Benign|Benign not_specified|Sanfilippo_syndrome RCV000078458.5|RCV000295179.1 MedGen|MedGen:SNOMED_CT CN169374|C0026706:88393000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9945 0.9988 0.9971 0.9885 1 0.9956 0.9917 0.9949 0.9979 0.9954 0.9987 0.9952 0.9934 1 0.9951 0.9931 0.9959 hom 5274.09 171 17 40689455 . T C 5274.09 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6665;MQ=59.20;MQ0=0;QD=30.84;VQSLOD=8.7178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5274,400,0 17 40695143 40695143 G T exonic NAGLU synonymous SNV NAGLU:NM_000263:exon6:c.G1119T:p.V373V . . . . . . 0.0004 0 0.0003 0 0 0.0007 0 0 0.0003 . 0.0005 . . rs371656965 . . Uncertain significance Sanfilippo_syndrome RCV000403536.1 MedGen:SNOMED_CT C0026706:88393000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 0 8.938e-05 0.0059 0 0 0.0004 0.0009 0 0.0003 0.0001 0 0.0066 0 0 0.0003 0.0010 het 1466.60 127 17 40695143 . G T 1466.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.940;DP=127;Dels=0.01;FS=0.764;HRun=1;HaplotypeScore=6.7480;MQ=58.93;MQ0=1;MQRankSum=-1.050;QD=11.46;ReadPosRankSum=-0.125;VQSLOD=2.8743;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,59:127:99:1497,0,1979 17 40696233 40696233 C G exonic NAGLU nonsynonymous SNV NAGLU:NM_000263:exon6:c.C2209G:p.R737G 0.86 0.6 0.93 1. 0.93 0.94 0.9055 0.6548 0.9525 0.9984 0.8731 0.9210 0.9170 0.9300 0.85 0.66 0.94 0.83 0.84 rs86312 COSM4130095 1(thyroid) Benign|Uncertain significance\x2cBenign|Benign not_specified|Sanfilippo_syndrome\x2cnot_specified|Sanfilippo_syndrome RCV000078456.4|RCV000326969.1\x2cRCV000078457.5|RCV000388513.1 MedGen|MedGen:SNOMED_CT\x2cMedGen|MedGen:SNOMED_CT CN169374|C0026706:88393000\x2cCN169374|C0026706:88393000 . . . . . . 0.042 0.416 D 0.678 0.394 P 0.128 0.312 B 0.597 0.110 N 0.994 0.236 P 1.87 0.498 L -5.4 0.991 D -1.24 0.314 N 0.123 0.138 -0.902 0.478 T 0.000 0.000 T . . . 4.062 0.545 23.7 0.993 0.592 0.745 0.362 D c -0.083 -0.019 1.000 0.432 0.672 0.522 0 4.01 0.457 0.635 0.241 0.070 0.177 0.342 0.255 0.120 0.196 9.337 0.370 . ENSG00000266929.1|ENSG00000037042.8 Artery_Tibial|Testis 0.9109 0.6507 0.9471 0.9299 0.9985 0.8747 0.9216 0.9078 0.9303 0.8497 0.6680 0.9463 0.9272 0.9988 0.8716 0.9230 0.9141 het 799.71 51 17 40696233 . C G 799.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.660;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;MQRankSum=0.404;QD=15.68;ReadPosRankSum=0.306;VQSLOD=6.3890;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,33:51:99:830,0,429 17 40706906 40706906 G A exonic HSD17B1 nonsynonymous SNV HSD17B1:NM_000413:exon6:c.G937A:p.G313S,HSD17B1:NM_001330219:exon6:c.G940A:p.G314S 0.52 0.48 0.49 0.45 0.52 0.66 0.6371 0.5727 0.6606 0.5285 0.6453 0.6340 0.6308 0.6834 0.59 0.57 0.6 0.58 0.24 rs605059 COSM436638 1(thyroid);12(large_intestine) . . . . . . . . . . . . . . 0.002 0.090 B 0.0 0.013 B 0.001 0.008 N 1 0.090 P . . . -1.62 0.834 D . . . 0.038 0.018 -0.889 0.491 T 0.000 0.000 T . . . -0.422 0.060 0.342 0.652 0.075 0.007 0.030 N c -1.953 -2.057 1.0 0.983 0.267 0.040 1 -1.21 0.090 -3.729 0.004 -1.461 0.011 0.000 0.063 0.001 0.043 . . . ENSG00000037042.8|ENSG00000108785.7|ENSG00000108786.6|ENSG00000037042.8|ENSG00000108797.7|ENSG00000037042.8|ENSG00000108797.7|ENSG00000037042.8|ENSG00000108786.6|ENSG00000037042.8|ENSG00000037042.8|ENSG00000108785.7|ENSG00000037042.8|ENSG00000108785.7|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000108785.7|ENSG00000037042.8|ENSG00000037042.8|ENSG00000108786.6|ENSG00000108785.7|ENSG00000108786.6|ENSG00000108797.7|ENSG00000037042.8|ENSG00000108785.7|ENSG00000108797.7|ENSG00000037042.8|ENSG00000267765.1|ENSG00000108786.6|ENSG00000037042.8|ENSG00000108797.7|ENSG00000108786.6|ENSG00000108797.7|ENSG00000037042.8|ENSG00000267765.1|ENSG00000267765.1|ENSG00000108797.7|ENSG00000037042.8|ENSG00000131462.3|ENSG00000037042.8|ENSG00000108797.7|ENSG00000131462.3|ENSG00000108797.7|ENSG00000131470.10|ENSG00000037042.8|ENSG00000267765.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid 0.5602 0.5125 0.5406 0.4222 0.4559 0.5537 0.5759 0.5324 0.6503 0.5201 0.4906 0.5024 0.3841 0.4257 0.5361 0.5449 0.5582 het 54.80 13 17 40706906 . G A 54.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.437;DP=13;Dels=0.00;FS=2.932;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=0.761;QD=4.22;ReadPosRankSum=0.930;VQSLOD=2.7454;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,3:13:84.79:85,0,268 17 40714804 40714804 C A exonic COASY nonsynonymous SNV COASY:NM_025233:exon1:c.C164A:p.S55Y,COASY:NM_001042529:exon2:c.C164A:p.S55Y,COASY:NM_001042532:exon3:c.C251A:p.S84Y 0.51 0.43 0.49 0.45 0.52 0.67 0.5390 0.4336 0.5353 0.4387 0.5337 0.5440 0.5322 0.6414 0.51 0.43 0.54 0.58 0.52 rs615942 COSM1383389;COSM4418059 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000429773.1 MedGen CN169374 . . . . . . 0.089 0.321 T 0.944 0.512 P 0.66 0.510 P 0.001 0.437 D 0.061 0.810 P 0.895 0.225 L 0.77 0.520 T -0.88 0.238 N 0.308 0.370 -0.903 0.477 T 0.000 0.000 T . . . 4.440 0.594 24.2 0.989 0.474 0.780 0.381 D c 0.404 0.505 1.0 0.983 0.543 0.218 0 5.69 0.883 5.218 0.649 0.935 0.490 1.000 0.715 0.986 0.517 17.298 0.870 . ENSG00000037042.8|ENSG00000108785.7|ENSG00000037042.8|ENSG00000108786.6|ENSG00000108797.7|ENSG00000037042.8|ENSG00000108786.6|ENSG00000037042.8|ENSG00000037042.8|ENSG00000108785.7|ENSG00000037042.8|ENSG00000108785.7|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000108786.6|ENSG00000108785.7|ENSG00000108786.6|ENSG00000108797.7|ENSG00000037042.8|ENSG00000108785.7|ENSG00000108797.7|ENSG00000037042.8|ENSG00000267765.1|ENSG00000108797.7|ENSG00000108786.6|ENSG00000108797.7|ENSG00000037042.8|ENSG00000267765.1|ENSG00000267765.1|ENSG00000108797.7|ENSG00000037042.8|ENSG00000131462.3|ENSG00000037042.8|ENSG00000131462.3|ENSG00000108797.7|ENSG00000037042.8|ENSG00000267765.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid 0.5328 0.4304 0.5220 0.3975 0.4390 0.5345 0.5492 0.5048 0.6356 0.5035 0.4335 0.4964 0.3841 0.4263 0.5379 0.5440 0.5544 het 1466.85 127 17 40714804 . C A 1466.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.706;DP=127;Dels=0.00;FS=0.678;HRun=0;HaplotypeScore=1.7326;MQ=58.76;MQ0=0;MQRankSum=1.232;QD=11.55;ReadPosRankSum=-0.508;VQSLOD=6.4634;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,60:127:99:1497,0,1940 17 40716520 40716520 A G exonic COASY synonymous SNV COASY:NM_025233:exon3:c.A972G:p.T324T,COASY:NM_001042529:exon4:c.A972G:p.T324T,COASY:NM_001042532:exon5:c.A1059G:p.T353T 0.5 0.42 0.49 0.45 0.52 0.67 0.5361 0.4182 0.5360 0.4394 0.5322 0.5426 0.5308 0.6368 0.5 0.42 0.54 0.58 0.57 rs598126 COSM4417936;COSM4417937 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000436954.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5320 0.4193 0.5221 0.3967 0.4396 0.5337 0.5491 0.5035 0.6353 0.4996 0.4216 0.4964 0.3808 0.4271 0.5358 0.5435 0.5524 het 1622.39 112 17 40716520 . A G 1622.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.095;DP=112;Dels=0.00;FS=5.874;HRun=1;HaplotypeScore=3.0534;MQ=59.20;MQ0=0;MQRankSum=0.826;QD=14.49;ReadPosRankSum=-0.260;VQSLOD=5.3547;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,60:112:99:1652,0,1525 17 40818699 40818699 A G exonic TUBG2 nonsynonymous SNV TUBG2:NM_016437:exon11:c.A1237G:p.M413V,TUBG2:NM_001320509:exon12:c.A1264G:p.M422V 0.48 0.31 0.47 0.46 0.53 0.67 0.5287 0.3320 0.5100 0.4518 0.5328 0.5436 0.5254 0.6441 0.48 0.34 0.54 0.56 0.55 rs1046097 COSM4418264 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.487 0.081 T 0.0 0.026 B 0.0 0.013 B 0.000 0.452 D 0.155 0.351 P 1.79 0.469 L -1.93 0.849 D -1.35 0.336 N 0.097 0.098 -0.986 0.337 T 0.000 0.000 T . . . 0.940 0.184 10.31 0.902 0.189 0.957 0.657 D c -0.085 0.111 1.000 0.747 0.672 0.522 0 5.07 0.680 7.337 0.783 1.194 0.916 1.000 0.715 1.000 0.888 14.989 0.709 Tubulin\x2c C-terminal|Tubulin/FtsZ\x2c C-terminal ENSG00000108797.7|ENSG00000037042.8|ENSG00000108785.7|ENSG00000037042.8|ENSG00000108797.7|ENSG00000037042.8|ENSG00000108786.6|ENSG00000037042.8|ENSG00000037042.8|ENSG00000108785.7|ENSG00000037042.8|ENSG00000108785.7|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000037042.8|ENSG00000267765.1|ENSG00000108785.7|ENSG00000108786.6|ENSG00000108797.7|ENSG00000037042.8|ENSG00000108797.7|ENSG00000037042.8|ENSG00000267765.1|ENSG00000037042.8|ENSG00000108797.7|ENSG00000108797.7|ENSG00000037042.8|ENSG00000267765.1|ENSG00000108797.7|ENSG00000037042.8|ENSG00000131462.3|ENSG00000037042.8|ENSG00000108797.7|ENSG00000131462.3|ENSG00000108797.7|ENSG00000037042.8|ENSG00000267765.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid 0.5265 0.3323 0.5003 0.3922 0.4533 0.5348 0.5518 0.4964 0.6432 0.4778 0.3393 0.4821 0.3775 0.4485 0.5381 0.5442 0.5535 het 1483.97 147 17 40818699 . A G 1483.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.766;DP=147;Dels=0.00;FS=3.119;HRun=0;HaplotypeScore=6.5950;MQ=58.72;MQ0=0;MQRankSum=0.235;QD=10.10;ReadPosRankSum=-1.009;VQSLOD=3.9072;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,67:147:99:1514,0,2235 17 40835922 40835922 A C exonic CNTNAP1 synonymous SNV CNTNAP1:NM_003632:exon2:c.A151C:p.R51R 0.58 0.6 0.52 0.47 0.58 0.7 0.5981 0.5910 0.5510 0.4521 0.6372 0.6015 0.5863 0.6824 0.6 0.6 0.6 0.71 0.62 rs2271029 COSM1383417 1(breast);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5926 0.5937 0.5456 0.4548 0.4540 0.6331 0.6085 0.5739 0.6815 0.5899 0.5912 0.5180 0.4305 0.4522 0.6354 0.5980 0.6302 hom 1721.86 56 17 40835922 . A C 1721.86 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.14;MQ0=0;QD=30.75;VQSLOD=9.6293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1755,147,0 17 40842762 40842762 C A exonic CNTNAP1 synonymous SNV CNTNAP1:NM_003632:exon13:c.C1861A:p.R621R 0.04 0.024 0.12 . 0.05 0.034 0.0659 0.0252 0.1550 0.0006 0.0833 0.0693 0.0639 0.0424 0.056 0.028 0.071 0.054 0.082 rs1553469 COSM5619100 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0704 0.0248 0.1475 0.0716 0.0004 0.0788 0.0698 0.0800 0.0418 0.0562 0.0280 0.1313 0.0762 0.0006 0.0726 0.0694 0.0662 het 2916.77 210 17 40842762 . C A 2916.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.696;DP=210;Dels=0.00;FS=0.533;HRun=0;HaplotypeScore=5.5657;MQ=59.04;MQ0=0;MQRankSum=0.642;QD=13.89;ReadPosRankSum=0.610;VQSLOD=5.4486;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,106:210:99:2947,0,2802 17 41116234 41116234 G A exonic AARSD1;PTGES3L-AARSD1 synonymous SNV AARSD1:NM_001261434:exon2:c.C60T:p.S20S,PTGES3L-AARSD1:NM_001136042:exon7:c.C582T:p.S194S,PTGES3L-AARSD1:NM_025267:exon7:c.C399T:p.S133S 0.93 0.74 0.98 1. 1. 1. 0.9794 0.7752 0.9899 0.9995 1 0.9995 0.9945 0.9998 0.93 0.78 1. 0.95 0.98 rs690941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9838 0.7726 0.9887 0.9999 0.9997 1 0.9994 0.9925 0.9996 0.9350 0.7729 0.9881 1 1 1 0.9994 0.9857 hom 2771.71 80 17 41116234 . G A 2771.71 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=56.45;MQ0=0;QD=34.65;VQSLOD=7.6438;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2805,223,0 17 41133071 41133071 T C exonic RUNDC1 nonsynonymous SNV RUNDC1:NM_001321381:exon1:c.T478C:p.W160R,RUNDC1:NM_173079:exon1:c.T478C:p.W160R 0.93 0.73 0.98 1. 1. 1. 0.9866 0.7972 0.9889 1 1 0.9995 0.9977 0.9997 0.94 0.82 1. 0.87 0.46 rs1708875 COSM3755558 1(thyroid);8(large_intestine) . . . . . . . . . . . 0.974 0.020 T 0.0 0.026 B 0.0 0.013 B 0.363 0.136 N 1 0.090 P -1.59 0.004 N -0.4 0.693 T 1.22 0.011 N 0.007 0.043 -0.996 0.311 T 0.000 0.000 T . . . 0.018 0.095 2.765 0.611 0.065 0.004 0.020 N c -1.330 -1.185 1.000 0.747 0.267 0.040 1 1.47 0.217 0.108 0.151 -0.338 0.072 0.491 0.267 0.412 0.256 6.077 0.190 . ENSG00000131469.8|ENSG00000131469.8 Muscle_Skeletal|Whole_Blood 0.9864 0.7626 0.9881 0.9999 1 1 0.9994 0.9924 0.9994 0.9336 0.7678 0.9880 1 1 1 0.9993 0.9857 hom 341.35 12 17 41133071 . T C 341.35 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.45;VQSLOD=13.4356;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:374,30,0 17 41165493 41165493 A G exonic IFI35 nonsynonymous SNV IFI35:NM_001330230:exon5:c.A376G:p.M126V,IFI35:NM_005533:exon5:c.A382G:p.M128V 0.98 0.91 0.99 1. 1. 1. 0.9935 0.9314 0.9961 1 1 0.9997 0.9978 0.9999 0.98 0.93 1. 0.98 0.7 rs588703 . . . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.003 0.354 N 0.998 0.225 P -2.02 0.002 N 1.39 0.369 T 1.92 0.021 N 0.025 0.026 -0.971 0.370 T 0.000 0.000 T . . . 0.926 0.182 10.23 0.799 0.125 0.168 0.193 N c -0.146 -0.054 0.988 0.315 0.672 0.522 0 4.12 0.473 1.451 0.345 0.076 0.183 1.000 0.715 0.773 0.328 7.35 0.257 Nmi/IFP 35 domain . . 0.9949 0.9310 0.9957 0.9999 1 1 0.9997 0.9980 0.9998 0.9792 0.9277 0.9976 1 1 1 0.9999 0.9929 hom 8390.02 250 17 41165493 . A G 8390.02 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5953;MQ=59.08;MQ0=0;QD=33.56;VQSLOD=9.3165;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8389,662,0 17 41165878 41165878 C T exonic IFI35 synonymous SNV IFI35:NM_001330230:exon6:c.C648T:p.N216N,IFI35:NM_005533:exon6:c.C654T:p.N218N 0.98 0.91 0.99 1. 1. 1. 0.9936 0.9326 0.9960 1 1 0.9995 0.9975 0.9999 0.98 0.93 1. 0.97 0.94 rs13229 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9949 0.9316 0.9956 0.9999 1 1.0000 0.9996 0.9981 0.9998 0.9792 0.9276 0.9976 1 1 1 0.9999 0.9928 hom 1087.36 35 17 41165878 . C T 1087.36 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.00;MQ0=0;QD=31.07;VQSLOD=8.3781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:87.28:1120,87,0 17 41891437 41891437 G A exonic MPP3 synonymous SNV MPP3:NM_001330233:exon16:c.C1272T:p.H424H,MPP3:NM_001932:exon16:c.C1197T:p.H399H 0.11 0.025 0.12 0.001 0.25 0.16 0.1655 0.0412 0.0815 0.0005 0.2159 0.2130 0.1641 0.1730 0.16 0.044 0.22 0.098 0.23 rs17742929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1680 0.0393 0.0936 0.3212 0.0008 0.2112 0.2099 0.1838 0.1739 0.1486 0.0457 0.1348 0.3179 0.0019 0.2060 0.2050 0.2014 hom 5604.47 171 17 41891437 . G A 5604.47 Mask AC=2;AF=1.00;AN=2;DP=171;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4418;MQ=59.57;MQ0=0;QD=32.77;VQSLOD=6.3575;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5604,448,0 17 41931375 41931375 A G exonic CD300LG nonsynonymous SNV CD300LG:NM_001168323:exon3:c.A580G:p.T194A,CD300LG:NM_001168324:exon3:c.A427G:p.T143A,CD300LG:NM_001168322:exon4:c.A682G:p.T228A,CD300LG:NM_145273:exon4:c.A682G:p.T228A 0.23 0.57 0.14 0.001 0.2 0.11 0.1768 0.5235 0.0944 0.0008 0.1937 0.1755 0.1529 0.1091 0.29 0.5 0.18 0.23 0.22 rs12453522 . . . . . . . . . . . . . 0.58 0.126 T 0.001 0.067 B 0.002 0.063 B 0.657 0.105 N 1 0.090 P 0.665 0.163 N 3.71 0.062 T -1.37 0.340 N 0.02 0.012 -0.967 0.378 T 0.000 0.000 T . . . -1.994 0.008 0.001 0.232 0.010 0.010 0.039 N c -1.810 -1.853 0.001 0.086 0.447 0.083 0 -2.95 0.052 -1.525 0.023 -1.358 0.013 0.000 0.063 0.000 0.016 1.933 0.031 . ENSG00000161649.8|ENSG00000161647.14|ENSG00000108852.10|ENSG00000108852.10|ENSG00000267420.1|ENSG00000161647.14 Adipose_Subcutaneous|Heart_Left_Ventricle|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.1711 0.5341 0.1058 0.2541 0.0007 0.1906 0.1720 0.1749 0.1134 0.2682 0.5332 0.1468 0.2450 0.0012 0.1871 0.1739 0.1922 hom 2424.83 71 17 41931375 . A G 2424.83 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.15;VQSLOD=14.3046;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2458,199,0 17 41959808 41959808 T C exonic MPP2 synonymous SNV MPP2:NM_001278371:exon5:c.A492G:p.Q164Q,MPP2:NM_001278373:exon5:c.A492G:p.Q164Q,MPP2:NM_001278374:exon5:c.A108G:p.Q36Q,MPP2:NM_001278375:exon5:c.A492G:p.Q164Q,MPP2:NM_001278376:exon5:c.A576G:p.Q192Q,MPP2:NM_001278370:exon6:c.A660G:p.Q220Q,MPP2:NM_005374:exon6:c.A525G:p.Q175Q,MPP2:NM_001278372:exon7:c.A597G:p.Q199Q,MPP2:NM_001278381:exon7:c.A525G:p.Q175Q 0.92 0.93 0.93 1. 0.84 0.91 0.8908 0.9012 0.9478 0.9997 0.8417 0.8651 0.8938 0.9102 0.88 0.91 0.86 0.58 0.81 rs124721 COSM4130123;COSM4130124 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8901 0.9034 0.9406 0.8233 0.9996 0.8462 0.8659 0.8746 0.9054 0.8747 0.8975 0.9212 0.8046 0.9988 0.8528 0.8531 0.8574 het 1769.52 143 17 41959808 . T C 1769.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.564;DP=143;Dels=0.00;FS=1.374;HRun=0;HaplotypeScore=7.6782;MQ=59.31;MQ0=0;MQRankSum=-0.288;QD=12.37;ReadPosRankSum=-0.108;VQSLOD=4.7758;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,70:143:99:1800,0,1908 17 41960343 41960343 T C exonic MPP2 synonymous SNV MPP2:NM_001278371:exon4:c.A348G:p.T116T,MPP2:NM_001278373:exon4:c.A348G:p.T116T,MPP2:NM_001278375:exon4:c.A348G:p.T116T,MPP2:NM_001278376:exon4:c.A432G:p.T144T,MPP2:NM_001278370:exon5:c.A516G:p.T172T,MPP2:NM_005374:exon5:c.A381G:p.T127T,MPP2:NM_001278372:exon6:c.A453G:p.T151T,MPP2:NM_001278381:exon6:c.A381G:p.T127T 0.83 0.59 0.9 1. 0.84 0.91 0.8611 0.6182 0.9302 0.9997 0.8402 0.8592 0.8800 0.9082 0.78 0.63 0.86 0.79 0.79 rs124719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8652 0.6167 0.9209 0.8167 0.9996 0.8448 0.8599 0.8564 0.9035 0.7923 0.6188 0.8947 0.7980 0.9988 0.8517 0.8481 0.8395 het 2008.60 157 17 41960343 . T C 2008.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.476;DP=157;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6203;MQ=59.56;MQ0=0;MQRankSum=1.115;QD=12.79;ReadPosRankSum=-0.894;VQSLOD=6.4151;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,78:157:99:2039,0,2271 17 41960633 41960633 C G exonic MPP2 nonsynonymous SNV MPP2:NM_001278371:exon3:c.G208C:p.V70L,MPP2:NM_001278373:exon3:c.G208C:p.V70L,MPP2:NM_001278375:exon3:c.G208C:p.V70L,MPP2:NM_001278376:exon3:c.G292C:p.V98L,MPP2:NM_001278370:exon4:c.G376C:p.V126L,MPP2:NM_005374:exon4:c.G241C:p.V81L,MPP2:NM_001278372:exon5:c.G313C:p.V105L,MPP2:NM_001278381:exon5:c.G241C:p.V81L 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . . 0.92 rs412849 COSM4591295;COSM4591296 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 920.75 31 17 41960633 . C G 920.75 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.70;VQSLOD=13.1532;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:75.23:954,75,0 17 41960634 41960634 G C exonic MPP2 nonsynonymous SNV MPP2:NM_001278371:exon3:c.C207G:p.H69Q,MPP2:NM_001278373:exon3:c.C207G:p.H69Q,MPP2:NM_001278375:exon3:c.C207G:p.H69Q,MPP2:NM_001278376:exon3:c.C291G:p.H97Q,MPP2:NM_001278370:exon4:c.C375G:p.H125Q,MPP2:NM_005374:exon4:c.C240G:p.H80Q,MPP2:NM_001278372:exon5:c.C312G:p.H104Q,MPP2:NM_001278381:exon5:c.C240G:p.H80Q 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . . 0.92 rs440755 COSM4590807;COSM4590808 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 991.77 32 17 41960634 . G C 991.77 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.99;VQSLOD=13.2357;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.25:1025,81,0 17 42030531 42030531 G C exonic PYY nonsynonymous SNV PYY:NM_004160:exon6:c.C215G:p.T72R 0.54 0.45 0.55 0.33 0.69 0.73 0.6288 0.4557 0.5910 0.3262 0.7020 0.6678 0.6438 0.7321 0.59 0.45 0.66 0.53 0.61 rs1058046 COSM3766098;COSM3766097 1(liver) . . . . . . . . . . . 0.089 0.321 T 0.089 0.235 B 0.029 0.203 B . . . 1 0.090 P . . . 2.49 0.182 T -1.85 0.433 N 0.064 0.049 -1.049 0.147 T 0.000 0.000 T . . . 0.725 0.163 8.989 0.832 0.141 0.111 0.162 N c -0.835 -0.921 1.000 0.747 0.598 0.340 0 1.58 0.224 -0.038 0.120 0.974 0.594 0.000 0.063 0.001 0.043 5.989 0.186 . . . 0.6315 0.4485 0.5921 0.6328 0.3352 0.6955 0.6718 0.6385 0.7369 0.5922 0.4474 0.6046 0.6755 0.3210 0.6852 0.6752 0.6947 hom 2432.91 79 17 42030531 . G C 2432.91 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9104;MQ=58.97;MQ0=0;QD=30.80;VQSLOD=6.4584;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2466,193,0 17 42030743 42030743 G C exonic PYY nonsynonymous SNV PYY:NM_004160:exon5:c.C109G:p.R37G 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 0.92 0.83 rs229969 COSM4130127;COSM4130126 2(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 1.61 0.284 T 6.35 0.000 N 0.074 0.213 -0.955 0.400 T 0.000 0.000 T . . . 1.016 0.191 10.76 0.664 0.078 0.035 0.086 N c -0.772 -0.689 1.000 0.436 0.549 0.223 0 2.43 0.287 2.238 0.425 0.061 0.167 0.814 0.297 0.924 0.398 5.420 0.156 . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 650.34 24 17 42030743 . G C 650.34 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.44;MQ0=0;QD=27.10;VQSLOD=7.5364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:54.15:683,54,0 17 42225547 42225547 A C exonic C17orf53 nonsynonymous SNV C17orf53:NM_001171251:exon3:c.A376C:p.T126P,C17orf53:NM_001321310:exon3:c.A376C:p.T126P,C17orf53:NM_001321311:exon3:c.A376C:p.T126P,C17orf53:NM_024032:exon3:c.A376C:p.T126P 0.58 0.9 0.46 0.76 0.3 0.31 0.4020 0.8169 0.4488 0.7852 0.3184 0.3154 0.3601 0.2935 0.47 0.79 0.31 0.69 0.36 rs227584 COSM4414925 1(haematopoietic_and_lymphoid_tissue) . . . . . Bone mineral density (hip) . .07 19079262 rs227584 9E-7 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.531 0.116 N 1 0.090 P -1.845 0.003 N 0.97 0.425 T 2.22 0.003 N 0.059 0.043 -0.987 0.333 T 0.000 0.000 T . . . -1.294 0.022 0.005 0.101 0.001 0.009 0.034 N c -1.416 -1.262 0.088 0.161 0.719 0.830 0 1.5 0.219 -0.126 0.105 -0.305 0.080 0.000 0.063 0.012 0.117 3.179 0.061 . ENSG00000267080.1|ENSG00000267080.1|ENSG00000267080.1|ENSG00000267080.1|ENSG00000161664.2|ENSG00000267080.1|ENSG00000161664.2|ENSG00000108840.11|ENSG00000267080.1|ENSG00000161664.2|ENSG00000267080.1|ENSG00000161664.2|ENSG00000267080.1|ENSG00000161664.2|ENSG00000267080.1|ENSG00000161664.2|ENSG00000267080.1|ENSG00000267080.1|ENSG00000267080.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Coronary|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.3985 0.8253 0.4537 0.4822 0.7865 0.3229 0.3015 0.3926 0.2891 0.4823 0.8119 0.4258 0.4967 0.7995 0.3099 0.3090 0.3282 het 3192.54 250 17 42225547 . A C 3192.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.190;DP=250;DS;Dels=0.00;FS=0.466;HRun=1;HaplotypeScore=7.5928;MQ=59.32;MQ0=0;MQRankSum=-0.491;QD=12.77;ReadPosRankSum=0.562;VQSLOD=4.6755;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,114:250:99:3223,0,3678 17 42248346 42248346 A T exonic ASB16 nonsynonymous SNV ASB16:NM_080863:exon1:c.A189T:p.Q63H 0.93 0.99 0.93 0.99 0.85 0.85 0.8813 0.9760 0.8986 0.9925 0.8606 0.8608 0.8692 0.8431 0.9 0.97 0.86 0.96 0.9 rs7218599 COSM436689 1(thyroid) . . . . . . . . . . . 0.233 0.181 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.182 P 0.1 0.085 N 0.63 0.531 T 0.08 0.060 N 0.066 0.052 -0.992 0.322 T 0.000 0.000 T . . . 1.928 0.293 15.76 0.979 0.363 0.204 0.208 N c -0.730 -0.560 1.000 0.517 0.421 0.056 0 3.06 0.342 -0.015 0.125 0.102 0.200 0.887 0.309 0.994 0.587 4.073 0.093 Ankyrin repeat-containing domain . . 0.8804 0.9791 0.8943 0.8984 0.9934 0.8600 0.8582 0.8810 0.8422 0.8949 0.9741 0.8923 0.9073 0.9944 0.8587 0.8486 0.8622 hom 1477.45 47 17 42248346 . A T 1477.45 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=31.44;VQSLOD=8.9906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1510,126,0 17 42254281 42254281 A G exonic ASB16 nonsynonymous SNV ASB16:NM_080863:exon3:c.A745G:p.T249A 0.52 0.7 0.44 0.75 0.29 0.31 0.4497 0.6779 0.5212 0.7908 0.4169 0.3894 0.4299 0.3433 0.39 0.59 0.29 0.56 0.11 rs7212573 COSM436690;COSM436691 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.090 P -0.825 0.015 N 0.69 0.517 T 1.91 0.005 N 0.096 0.097 -0.951 0.409 T 0.000 0.000 T . . . 0.303 0.123 5.719 0.577 0.057 0.006 0.027 N c -1.133 -1.005 1.000 0.432 0.701 0.575 0 3.08 0.344 0.997 0.291 0.015 0.141 0.001 0.137 0.574 0.284 9.565 0.384 Ankyrin repeat-containing domain ENSG00000161664.2|ENSG00000267080.1|ENSG00000267080.1|ENSG00000267080.1|ENSG00000267080.1|ENSG00000161664.2|ENSG00000267080.1|ENSG00000161664.2|ENSG00000108840.11|ENSG00000267080.1|ENSG00000161664.2|ENSG00000267080.1|ENSG00000161664.2|ENSG00000267080.1|ENSG00000161664.2|ENSG00000267080.1|ENSG00000161664.2|ENSG00000267080.1|ENSG00000267080.1|ENSG00000267080.1|ENSG00000267080.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Coronary|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.3898 0.6427 0.4440 0.4780 0.7839 0.3369 0.3019 0.3875 0.2904 0.4278 0.6287 0.4175 0.4966 0.7989 0.3088 0.3046 0.3234 het 265.72 18 17 42254281 . A G 265.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.443;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.489;QD=14.76;ReadPosRankSum=0.666;VQSLOD=11.2343;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,10:18:99:296,0,198 17 42254298 42254298 C T exonic ASB16 synonymous SNV ASB16:NM_080863:exon3:c.C762T:p.A254A 0.009 . 0.0086 . 0.039 . 0.0278 0.0086 0.0308 0 0.0961 0.0410 0.0225 0.0015 0.016 0.007 0.021 0.011 . rs141590219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0175 0.0046 0.0097 0.0160 0 0.0455 0.0269 0.0212 0.0014 0.0207 0.0069 0.0133 0.0199 0 0.0401 0.0266 0.0245 het 203.40 12 17 42254298 . C T 203.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;MQRankSum=1.134;QD=16.95;ReadPosRankSum=-0.825;VQSLOD=4.7558;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,8:12:89.97:233,0,90 17 42335387 42335387 G A exonic SLC4A1 synonymous SNV SLC4A1:NM_000342:exon11:c.C1249T:p.L417L 0.019 0.003 0.036 . 0.041 0.026 0.0325 0.0080 0.0237 0.0001 0.0519 0.0401 0.0366 0.0324 0.032 0.0098 0.044 0.022 0.049 rs5015 . . Benign|Likely benign|Likely benign|Likely benign not_specified|Spherocytosis\x2c_Dominant|Distal_Renal_Tubular_Acidosis\x2c_Dominant|Hemolytic_anemia RCV000252603.1|RCV000266715.1|RCV000324161.1|RCV000363360.1 MedGen|MedGen|MedGen|MedGen CN169374|CN239455|CN239155|C0002878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0337 0.0072 0.0236 0.0340 0.0003 0.0513 0.0420 0.0354 0.0330 0.0290 0.0070 0.0227 0.0265 0.0006 0.0455 0.0406 0.0429 het 1143.10 86 17 42335387 . G A 1143.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.209;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2602;MQ=59.24;MQ0=0;MQRankSum=1.083;QD=13.29;ReadPosRankSum=1.111;VQSLOD=5.0730;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,46:86:99:1173,0,1059 17 42398052 42398052 A G exonic SLC25A39 nonsynonymous SNV SLC25A39:NM_001321240:exon8:c.T670C:p.F224L,SLC25A39:NM_001143780:exon9:c.T739C:p.F247L,SLC25A39:NM_001321241:exon9:c.T733C:p.F245L,SLC25A39:NM_016016:exon9:c.T715C:p.F239L 0.68 0.78 0.58 0.93 0.4 0.66 0.5225 0.7430 0.6501 0.9245 0.4998 0.3872 0.4923 0.6409 0.5 0.73 0.39 0.63 0.39 rs2011951 COSM4783675;COSM3755577 1(large_intestine) . . . . . . . . . . . 0.665 0.047 T 0.0 0.026 B 0.0 0.013 B 0.020 0.015 N 1 0.090 P -1.605 0.004 N -1.25 0.797 T 0.64 0.026 N 0.029 0.010 -0.971 0.370 T 0.000 0.000 T . . . 0.052 0.099 3.103 0.668 0.079 0.041 0.095 N c -1.272 -1.228 0.764 0.235 0.722 0.854 0 0.7 0.172 0.635 0.241 0.138 0.222 0.000 0.063 0.708 0.311 5.669 0.169 Mitochondrial carrier domain ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000013306.11|ENSG00000267750.1|ENSG00000013306.11|ENSG00000013306.11|ENSG00000267750.1|ENSG00000013306.11|ENSG00000108309.8|ENSG00000267750.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5227 0.7500 0.6289 0.3986 0.9260 0.4967 0.3829 0.4967 0.6382 0.5401 0.7437 0.5788 0.4 0.9282 0.4845 0.3961 0.4939 hom 4834.52 161 17 42398052 . A G 4834.52 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7325;MQ=59.48;MQ0=0;QD=30.03;VQSLOD=9.1452;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:4834,361,0 17 42449789 42449789 G A exonic ITGA2B synonymous SNV ITGA2B:NM_000419:exon30:c.C3063T:p.V1021V 0.4 0.43 0.37 0.45 0.39 0.34 0.3869 0.4018 0.3823 0.4263 0.4328 0.3871 0.3599 0.3427 0.38 0.39 0.38 0.39 0.38 rs5910 COSM3755578 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Glanzmann_thrombasthenia RCV000251499.1|RCV000293126.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0040015:273800:ORPHA849:32942005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3874 0.3934 0.3789 0.4251 0.4290 0.4381 0.3825 0.3694 0.3422 0.4029 0.3914 0.3747 0.4305 0.4322 0.4300 0.4001 0.4194 het 893.93 60 17 42449789 . G A 893.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.460;DP=60;Dels=0.00;FS=2.489;HRun=1;HaplotypeScore=2.5929;MQ=60.00;MQ0=0;MQRankSum=1.000;QD=14.90;ReadPosRankSum=-0.852;VQSLOD=6.0554;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,32:60:99:924,0,730 17 42475557 42475557 C T exonic GPATCH8 synonymous SNV GPATCH8:NM_001304943:exon5:c.G3654A:p.G1218G,GPATCH8:NM_001304939:exon7:c.G3813A:p.G1271G,GPATCH8:NM_001304942:exon7:c.G3654A:p.G1218G,GPATCH8:NM_001002909:exon8:c.G3888A:p.G1296G,GPATCH8:NM_001304941:exon9:c.G3654A:p.G1218G,GPATCH8:NM_001304940:exon10:c.G3654A:p.G1218G 0.015 . 0.011 . 0.048 0.018 0.0242 0.0071 0.0144 0.0001 0.0376 0.0311 0.0210 0.0212 0.027 0.01 0.035 0.022 0.074 rs61746719 COSM6049427 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0248 0.0065 0.0110 0.0169 0.0001 0.0370 0.0344 0.0276 0.0206 0.0236 0.0091 0.0179 0.0132 0 0.0352 0.0318 0.0318 het 2186.19 174 17 42475557 . C T 2186.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.976;DP=174;Dels=0.00;FS=0.597;HRun=0;HaplotypeScore=1.9654;MQ=59.30;MQ0=0;MQRankSum=-3.162;QD=12.56;ReadPosRankSum=0.213;VQSLOD=3.3531;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,83:174:99:2216,0,2286 17 42475983 42475983 G C exonic GPATCH8 synonymous SNV GPATCH8:NM_001304943:exon5:c.C3228G:p.T1076T,GPATCH8:NM_001304939:exon7:c.C3387G:p.T1129T,GPATCH8:NM_001304942:exon7:c.C3228G:p.T1076T,GPATCH8:NM_001002909:exon8:c.C3462G:p.T1154T,GPATCH8:NM_001304941:exon9:c.C3228G:p.T1076T,GPATCH8:NM_001304940:exon10:c.C3228G:p.T1076T 0.49 0.4 0.59 0.5 0.6 0.42 0.5630 0.4040 0.5949 0.5168 0.4959 0.6125 0.6090 0.4409 0.55 0.41 0.62 0.49 0.58 rs936019 COSM1178442 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5610 0.4056 0.5968 0.6038 0.5110 0.4992 0.6176 0.5937 0.4372 0.5299 0.4109 0.6005 0.6523 0.5012 0.5009 0.6010 0.5562 hom 7715.11 250 17 42475983 . G C 7715.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.536;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5507;MQ=58.47;MQ0=0;MQRankSum=-0.285;QD=30.86;ReadPosRankSum=-1.663;VQSLOD=5.3721;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7675,584,0 17 42476409 42476409 G A exonic GPATCH8 synonymous SNV GPATCH8:NM_001304943:exon5:c.C2802T:p.H934H,GPATCH8:NM_001304939:exon7:c.C2961T:p.H987H,GPATCH8:NM_001304942:exon7:c.C2802T:p.H934H,GPATCH8:NM_001002909:exon8:c.C3036T:p.H1012H,GPATCH8:NM_001304941:exon9:c.C2802T:p.H934H,GPATCH8:NM_001304940:exon10:c.C2802T:p.H934H 0.029 0.0045 0.039 0.026 0.054 0.032 0.0413 0.0081 0.0226 0.0338 0.0301 0.0548 0.0397 0.0296 0.041 0.0093 0.057 0.011 0.041 rs3744427 COSM3755579 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0415 0.0087 0.0277 0.0632 0.0303 0.0310 0.0555 0.0401 0.0290 0.0428 0.0104 0.0251 0.0861 0.0358 0.0344 0.0632 0.0619 het 687.03 56 17 42476409 . G A 687.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.994;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6217;MQ=59.59;MQ0=0;MQRankSum=1.142;QD=12.27;ReadPosRankSum=1.585;VQSLOD=5.7794;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,26:56:99:717,0,775 17 42744238 42744238 A C exonic MEIOC nonsynonymous SNV MEIOC:NM_001145080:exon5:c.A959C:p.N320T 0.23 0.47 0.18 0.086 0.18 0.14 0.1966 0.4339 0.1145 0.0792 0.1421 0.2048 0.1729 0.1460 0.27 0.41 0.19 0.27 . rs9907151 COSM4000172 3(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.067 0.359 T 0.161 0.267 B 0.116 0.303 B 0.016 0.282 N 0.472 0.319 P 0.805 0.203 L 1.44 0.332 T -1.2 0.693 N 0.156 0.186 -0.903 0.477 T 0.000 0.000 T . . . -1.119 0.028 0.009 0.958 0.274 0.403 0.262 N c -0.475 -0.386 0.000 0.029 0.549 0.223 0 1.02 0.190 -0.305 0.082 -0.126 0.112 0.510 0.268 0.997 0.653 11.427 0.491 . ENSG00000073670.9|ENSG00000266979.1 Esophagus_Mucosa|Testis 0.1763 0.4262 0.1038 0.2130 0.0703 0.1375 0.1952 0.1847 0.1391 0.2393 0.4206 0.1507 0.2583 0.0686 0.1398 0.1838 0.1806 het 346.69 27 17 42744238 . A C 346.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.074;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.14;MQ0=0;MQRankSum=-0.073;QD=12.84;ReadPosRankSum=0.317;VQSLOD=6.7957;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,15:27:99:377,0,329 17 42852604 42852604 G T exonic ADAM11 synonymous SNV ADAM11:NM_001318933:exon15:c.G645T:p.S215S,ADAM11:NM_002390:exon15:c.G1245T:p.S415S 0.65 0.45 0.69 0.77 0.68 0.72 0.6412 0.4924 0.6871 0.7774 0.6762 0.6220 0.6656 0.6937 0.58 0.5 0.62 0.62 0.59 rs1558083 COSM4130148;COSM4130147 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6468 0.4885 0.6949 0.6286 0.7730 0.6667 0.6191 0.6551 0.6922 0.5952 0.4936 0.6623 0.5960 0.7640 0.6601 0.6150 0.6311 het 4466.38 247 17 42852604 . G T 4466.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.179;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.4986;MQ=58.83;MQ0=0;MQRankSum=0.884;QD=18.08;ReadPosRankSum=1.797;VQSLOD=2.5425;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,147:247:99:3863,0,2432 17 42852610 42852610 T C exonic ADAM11 synonymous SNV ADAM11:NM_001318933:exon15:c.T651C:p.C217C,ADAM11:NM_002390:exon15:c.T1251C:p.C417C 0.91 0.9 0.95 0.87 0.92 0.9 0.8922 0.9059 0.9108 0.8634 0.8739 0.8948 0.8940 0.8820 0.89 0.9 0.89 0.92 0.83 rs1558084 COSM4130150;COSM4130149 1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8913 0.9042 0.9107 0.9226 0.8611 0.8678 0.8932 0.8988 0.8791 0.8841 0.9051 0.9057 0.9437 0.8441 0.8654 0.8780 0.8842 hom 7892.64 245 17 42852610 . T C 7892.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.166;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7831;MQ=59.10;MQ0=0;MQRankSum=1.562;QD=32.21;ReadPosRankSum=-0.177;VQSLOD=7.1209;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,244:245:99:7856,575,0 17 42854610 42854610 T C exonic ADAM11 synonymous SNV ADAM11:NM_001318933:exon21:c.T1158C:p.S386S,ADAM11:NM_002390:exon21:c.T1758C:p.S586S 0.65 0.45 0.69 0.77 0.68 0.72 0.6412 0.4923 0.6873 0.7764 0.6767 0.6219 0.6641 0.6954 0.58 0.5 0.62 0.63 0.65 rs8075210 COSM1750080;COSM1750081 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6461 0.4881 0.6948 0.6281 0.7731 0.6660 0.6189 0.6541 0.6917 0.5957 0.4927 0.6615 0.5960 0.7662 0.6608 0.6159 0.6327 het 405.70 28 17 42854610 . T C 405.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.810;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=-0.415;QD=14.49;ReadPosRankSum=0.138;VQSLOD=6.8911;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,15:28:99:436,0,381 17 42855554 42855554 T C exonic ADAM11 synonymous SNV ADAM11:NM_001318933:exon25:c.T1620C:p.I540I,ADAM11:NM_002390:exon25:c.T2220C:p.I740I 0.65 0.45 0.69 0.77 0.68 0.72 0.6433 0.4971 0.6873 0.7780 0.6785 0.6241 0.6648 0.6963 0.58 0.5 0.62 0.62 0.64 rs2070605 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6466 0.4883 0.6943 0.6292 0.7733 0.6668 0.6187 0.6552 0.6922 0.5962 0.4941 0.6623 0.5933 0.7642 0.6604 0.6164 0.6329 het 526 51 17 42855554 . T C 526 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.142;DP=51;Dels=0.00;FS=1.096;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-2.066;QD=10.31;ReadPosRankSum=-0.557;VQSLOD=5.2532;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,24:51:99:556,0,727 17 42925559 42925559 C T exonic HIGD1B synonymous SNV HIGD1B:NM_016438:exon1:c.C39T:p.D13D,HIGD1B:NM_001271880:exon2:c.C39T:p.D13D 0.65 0.82 0.55 0.54 0.59 0.67 0.6287 0.7949 0.5744 0.5534 0.5634 0.6174 0.6090 0.6738 0.68 0.79 0.62 0.64 0.61 rs12164 COSM5480179 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6226 0.7990 0.5669 0.6336 0.5580 0.5708 0.6206 0.6161 0.6743 0.6677 0.7954 0.5885 0.6722 0.5655 0.5776 0.6343 0.5959 hom 3765.24 125 17 42925559 . C T 3765.24 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.347;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9277;MQ=59.70;MQ0=0;MQRankSum=-0.050;QD=30.12;ReadPosRankSum=1.041;VQSLOD=8.6177;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,122:125:99:3720,250,0 17 42927721 42927721 G A exonic HIGD1B nonsynonymous SNV HIGD1B:NM_016438:exon3:c.G257A:p.S86N,HIGD1B:NM_001271880:exon4:c.G257A:p.S86N 0.23 0.2 0.23 0.084 0.34 0.28 0.3110 0.2144 0.1646 0.1075 0.3026 0.3722 0.3242 0.3256 0.31 0.22 0.36 0.23 0.33 rs1071682 COSM3755581 1(large_intestine) . . . . . . . . . . . 0.193 0.209 T 0.0 0.026 B 0.0 0.013 B 0.010 0.300 N 0.000 0.588 P . . . 1.55 0.309 T 0.41 0.034 N 0.008 0.003 -0.945 0.418 T 0.000 0.000 T . . . 0.741 0.165 9.091 0.921 0.208 0.558 0.297 D c -0.504 -0.384 0.919 0.266 0.563 0.310 0 4.23 0.492 1.910 0.393 0.003 0.136 1.000 0.715 0.307 0.238 7.524 0.266 Hypoxia induced protein\x2c domain ENSG00000182963.5|ENSG00000108883.8|ENSG00000161692.13|ENSG00000182963.5|ENSG00000161692.13|ENSG00000161692.13|ENSG00000161692.13 Artery_Aorta|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2939 0.2036 0.1562 0.3733 0.1028 0.2903 0.3669 0.3135 0.3068 0.2923 0.2042 0.2041 0.4371 0.0994 0.2936 0.3643 0.3224 het 251.19 31 17 42927721 . G A 251.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.521;DP=31;Dels=0.00;FS=3.448;HRun=1;HaplotypeScore=0.9867;MQ=58.79;MQ0=0;MQRankSum=0.953;QD=8.10;ReadPosRankSum=-0.061;VQSLOD=5.8504;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,12:31:99:281,0,491 17 42953409 42953409 A G exonic EFTUD2 synonymous SNV EFTUD2:NM_001142605:exon9:c.T657C:p.T219T,EFTUD2:NM_001258353:exon10:c.T762C:p.T254T,EFTUD2:NM_001258354:exon10:c.T732C:p.T244T,EFTUD2:NM_004247:exon10:c.T762C:p.T254T 0.17 0.25 0.12 0.14 0.2 0.1 0.1743 0.2547 0.1069 0.1476 0.1532 0.1944 0.1454 0.1136 0.22 0.26 0.2 0.22 0.16 rs2289674 COSM4000174 1(haematopoietic_and_lymphoid_tissue) other not_specified RCV000116955.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1698 0.2604 0.1025 0.1749 0.1445 0.1574 0.1998 0.1634 0.1120 0.2046 0.2606 0.1241 0.18 0.1389 0.1571 0.1979 0.1640 het 2904.59 250 17 42953409 . A G 2904.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.373;DP=250;DS;Dels=0.00;FS=7.128;HRun=1;HaplotypeScore=13.9336;MQ=59.42;MQ0=0;MQRankSum=0.539;QD=11.62;ReadPosRankSum=-0.189;VQSLOD=2.7652;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:134,115:250:99:2935,0,3865 17 42987523 42987523 G A exonic GFAP nonsynonymous SNV GFAP:NM_001131019:exon8:c.C1277T:p.T426M 0.11 0.1 0.11 0.005 0.17 0.15 0.1375 0.0893 0.0655 0.0064 0.1538 0.1667 0.1537 0.1601 0.15 0.095 0.17 . . rs9908084 COSM3755582 1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 0.007 0.131 B 0.001 0.040 B . . . 0.999 0.588 P . . . -1.89 0.846 D -1.61 0.387 N 0.064 0.049 -0.989 0.329 T 0.001 0.005 T . . . 0.818 0.172 9.573 0.998 0.872 0.676 0.332 D c -0.405 -0.260 1.000 0.517 0.581 0.326 0 3.8 0.427 1.905 0.393 1.048 0.713 0.997 0.399 0.934 0.407 9.513 0.381 . ENSG00000161692.13|ENSG00000161692.13|ENSG00000161692.13|ENSG00000182963.5|ENSG00000108883.8|ENSG00000108883.8|ENSG00000161692.13|ENSG00000108883.8|ENSG00000161692.13|ENSG00000161692.13|ENSG00000161692.13|ENSG00000182963.5|ENSG00000182963.5|ENSG00000108883.8|ENSG00000161692.13|ENSG00000108883.8|ENSG00000161692.13|ENSG00000161692.13|ENSG00000108883.8|ENSG00000161692.13|ENSG00000131097.2|ENSG00000161692.13|ENSG00000161692.13|ENSG00000073670.9|ENSG00000161692.13|ENSG00000073670.9|ENSG00000161692.13|ENSG00000161692.13|ENSG00000161692.13|ENSG00000161692.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.1367 0.0895 0.0724 0.1821 0.0075 0.1526 0.1678 0.1484 0.1617 0.1367 0.0903 0.0933 0.2020 0.0117 0.1546 0.1736 0.1475 het 1416.15 136 17 42987523 . G A 1416.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.385;DP=136;Dels=0.00;FS=4.906;HRun=0;HaplotypeScore=6.5423;MQ=58.92;MQ0=0;MQRankSum=0.699;QD=10.41;ReadPosRankSum=-0.883;VQSLOD=3.9213;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,60:136:99:1446,0,1717 17 42987524 42987524 T C exonic GFAP nonsynonymous SNV GFAP:NM_001131019:exon8:c.A1276G:p.T426A 0.24 0.23 0.23 0.25 0.26 0.24 0.2675 0.2301 0.2184 0.2478 0.3155 0.2765 0.2951 0.2774 0.26 0.24 0.27 0.11 . rs9916491 COSM4000176 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.138 0.258 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P . . . -1.77 0.837 D -0.41 0.140 N 0.053 0.035 -1.100 0.041 T 0.000 0.000 T . . . 0.421 0.134 6.791 0.978 0.356 0.027 0.073 N c -0.688 -0.533 1.000 0.480 0.581 0.326 0 3.79 0.426 0.401 0.205 0.069 0.176 0.891 0.310 0.946 0.421 6.750 0.225 . ENSG00000108883.8|ENSG00000108883.8|ENSG00000108883.8|ENSG00000108883.8|ENSG00000182963.5|ENSG00000108883.8|ENSG00000108883.8|ENSG00000108883.8|ENSG00000267505.1|ENSG00000108883.8|ENSG00000224911.1|ENSG00000108883.8|ENSG00000108883.8|ENSG00000161692.13 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Stomach|Whole_Blood 0.2687 0.2317 0.2241 0.2457 0.2536 0.3207 0.2774 0.2701 0.2818 0.2768 0.2299 0.2362 0.2433 0.2685 0.3262 0.2969 0.2690 het 1468.30 137 17 42987524 . T C 1468.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.792;DP=137;Dels=0.00;FS=4.785;HRun=0;HaplotypeScore=5.5465;MQ=59.07;MQ0=0;MQRankSum=-0.002;QD=10.72;ReadPosRankSum=-0.847;VQSLOD=4.0868;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,62:137:99:1498,0,1820 17 43003484 43003484 T C exonic KIF18B synonymous SNV KIF18B:NM_001265577:exon16:c.A2523G:p.A841A 0.36 0.58 0.31 0.15 0.24 0.43 0.3049 0.5457 0.3316 0.1287 0.1820 0.2702 0.2958 0.4251 0.35 0.51 0.27 0.28 . rs3169733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3011 0.5510 0.3274 0.3208 0.1343 0.1786 0.2737 0.2911 0.4252 0.3387 0.5417 0.3273 0.3289 0.1401 0.1925 0.2815 0.2695 het 1325.52 107 17 43003484 . T C 1325.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.856;DP=107;Dels=0.00;FS=3.643;HRun=0;HaplotypeScore=0.9469;MQ=59.39;MQ0=0;MQRankSum=-0.362;QD=12.39;ReadPosRankSum=-0.715;VQSLOD=6.5004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,54:107:99:1356,0,1365 17 43011908 43011908 G A exonic KIF18B synonymous SNV KIF18B:NM_001264573:exon5:c.C654T:p.N218N,KIF18B:NM_001265577:exon5:c.C654T:p.N218N 0.12 0.12 0.14 0.013 0.17 0.18 0.1692 0.1454 0.0867 0.0242 0.1485 0.1989 0.1832 0.2039 0.18 0.14 0.19 0.12 . rs755547 COSM3755585;COSM436717 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1582 0.1337 0.0894 0.2399 0.0232 0.1312 0.1922 0.1651 0.1933 0.1664 0.1444 0.1100 0.2682 0.0241 0.1370 0.2018 0.1773 het 406.56 41 17 43011908 . G A 406.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.045;DP=41;Dels=0.00;FS=2.687;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=1.389;QD=9.92;ReadPosRankSum=-0.119;VQSLOD=6.4077;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:437,0,595 17 43111688 43111688 G A exonic DCAKD synonymous SNV DCAKD:NM_001128631:exon3:c.C183T:p.N61N,DCAKD:NM_001288654:exon3:c.C183T:p.N61N,DCAKD:NM_001288655:exon3:c.C183T:p.N61N,DCAKD:NM_001321326:exon3:c.C183T:p.N61N,DCAKD:NM_024819:exon3:c.C183T:p.N61N 0.26 0.16 0.22 0.27 0.35 0.29 0.2947 0.1915 0.1796 0.2510 0.3277 0.3328 0.3244 0.2936 0.3 0.2 0.35 0.24 0.35 rs9900173 COSM3766100;COSM3766101 1(liver);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2952 0.1940 0.1904 0.3614 0.2550 0.3277 0.3344 0.3154 0.2930 0.2850 0.1995 0.2225 0.3245 0.2640 0.3290 0.3281 0.3057 het 1318.74 91 17 43111688 . G A 1318.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.052;DP=91;Dels=0.00;FS=0.797;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=0.228;QD=14.49;ReadPosRankSum=-0.740;VQSLOD=6.4711;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,51:91:99:1349,0,1133 17 43176804 43176804 C T exonic NMT1 synonymous SNV NMT1:NM_021079:exon8:c.C916T:p.L306L 0.22 0.059 0.2 0.27 0.3 0.33 0.2516 0.0843 0.1691 0.2472 0.2272 0.2796 0.2671 0.3133 0.22 0.092 0.29 0.22 0.3 rs2239923 COSM4000177 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2537 0.0825 0.1745 0.2830 0.2504 0.2297 0.2864 0.2677 0.3139 0.2135 0.0834 0.1909 0.2584 0.2599 0.2375 0.2766 0.2505 het 2497.51 234 17 43176804 . C T 2497.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.824;DP=234;Dels=0.00;FS=2.943;HRun=1;HaplotypeScore=2.5619;MQ=59.84;MQ0=0;MQRankSum=0.054;QD=10.67;ReadPosRankSum=0.247;VQSLOD=6.3356;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,103:234:99:2527,0,3475 17 43192549 43192549 - C exonic;splicing PLCD3;PLCD3 NM_133373:exon10:c.1622+1->G unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9969 0.9635 0.9987 1 1 1.0000 0.9967 0.9997 1. 1. 1. 0.14 . rs35911033 COSM5713309;COSM5713310 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9975 0.9632 0.9980 1 1 0.9999 0.9999 0.9990 0.9998 0.9889 0.9608 0.9976 1 1 1 0.9999 0.9990 hom 317.79 10 17 43192549 . T TC 317.79 Mask AC=2;AF=1.00;AN=2;DP=10;FS=0.000;HRun=1;HaplotypeScore=17.6780;MQ=56.16;MQ0=0;QD=31.78;set=variant2 GT:AD:DP:GQ:PL 1/1:1,9:10:24.08:360,24,0 17 43192821 43192821 A G exonic PLCD3 unknown UNKNOWN 0.54 0.46 0.54 0.67 0.59 0.48 0.5748 0.4751 0.5639 0.6940 0.6242 0.5841 0.5911 0.5180 0.54 0.49 0.57 0.59 . rs713101 COSM436724 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5635 0.4493 0.5498 0.6237 0.6852 0.6015 0.5683 0.5774 0.5000 0.5514 0.4707 0.5813 0.6159 0.6694 0.6135 0.5679 0.5582 het 356.87 34 17 43192821 . A G 356.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.150;DP=34;Dels=0.00;FS=10.961;HRun=0;HaplotypeScore=1.8110;MQ=57.88;MQ0=0;MQRankSum=-0.173;QD=10.50;ReadPosRankSum=-0.902;VQSLOD=4.0176;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,15:34:99:387,0,440 17 43226887 43226887 A G exonic HEXIM1 synonymous SNV HEXIM1:NM_006460:exon1:c.A330G:p.E110E 0.2 0.048 0.19 0.22 0.27 0.31 0.2407 0.0763 0.1700 0.2035 0.2749 0.2597 0.2730 0.2909 0.17 0.069 0.22 0.098 0.033 rs12051846 COSM3755587 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2279 0.0659 0.1597 0.2494 0.1942 0.2505 0.2511 0.2492 0.2868 0.1954 0.0698 0.1699 0.25 0.1993 0.2629 0.2503 0.2331 het 181.01 12 17 43226887 . A G 181.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=0.689;QD=15.08;ReadPosRankSum=0.689;VQSLOD=6.2628;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,7:12:99:211,0,139 17 43227214 43227214 T C exonic HEXIM1 synonymous SNV HEXIM1:NM_006460:exon1:c.T657C:p.D219D 0.2 0.048 0.2 0.22 0.27 0.31 0.2275 0.0713 0.1546 0.1947 0.2570 0.2501 0.2561 0.2884 0.19 0.076 0.24 0.16 0.15 rs1044977 COSM3932621 2(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2288 0.0683 0.1599 0.2495 0.1956 0.2520 0.2528 0.2523 0.2879 0.1955 0.0702 0.1699 0.2433 0.1989 0.2625 0.2505 0.2342 het 1363.46 100 17 43227214 . T C 1363.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.442;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2358;MQ=59.54;MQ0=0;MQRankSum=-1.152;QD=13.63;ReadPosRankSum=0.431;VQSLOD=5.2360;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,48:100:99:1393,0,1453 17 43319770 43319770 C T exonic FMNL1 synonymous SNV FMNL1:NM_005892:exon16:c.C1948T:p.L650L 0.32 0.1 0.43 0.28 0.45 0.45 0.4290 0.1480 0.3993 0.2938 0.4043 0.4853 0.4106 0.4805 0.39 0.16 0.5 0.26 0.46 rs1801353 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4291 0.1389 0.3978 0.4146 0.2976 0.4067 0.4910 0.4192 0.4805 0.3676 0.1484 0.3771 0.4404 0.3153 0.3991 0.4875 0.4353 het 1505.35 119 17 43319770 . C T 1505.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.624;DP=119;Dels=0.00;FS=8.632;HRun=1;HaplotypeScore=4.2560;MQ=59.65;MQ0=0;MQRankSum=-0.469;QD=12.65;ReadPosRankSum=0.312;VQSLOD=4.7113;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,61:119:99:1535,0,1586 17 43333125 43333125 C T exonic SPATA32 nonsynonymous SNV SPATA32:NM_152343:exon4:c.G424A:p.V142M 0.31 0.11 0.43 0.3 0.42 0.39 0.4067 0.1470 0.3959 0.3239 0.4115 0.4537 0.3786 0.4305 0.36 0.15 0.46 0.29 0.43 rs11651968 COSM4415035 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.264 0.163 T 0.894 0.472 P 0.247 0.372 B 0.286 0.039 N 1 0.090 P 1.5 0.380 L 0.6 0.537 T -0.25 0.110 N 0.038 0.018 -1.026 0.216 T 0.000 0.000 T . . . 0.417 0.134 6.764 0.990 0.507 0.005 0.024 N c -0.939 -1.128 0.998 0.365 0.421 0.056 0 -3.82 0.040 -3.060 0.007 -0.491 0.052 0.000 0.063 0.000 0.016 5.305 0.150 . ENSG00000267278.1|ENSG00000184361.8 Testis|Whole_Blood 0.4098 0.1405 0.3962 0.4258 0.3262 0.4119 0.4563 0.4055 0.4310 0.3535 0.1475 0.3816 0.4437 0.3489 0.4178 0.4529 0.3992 het 2044.83 159 17 43333125 . C T 2044.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.437;DP=159;Dels=0.00;FS=7.275;HRun=0;HaplotypeScore=9.5287;MQ=59.42;MQ0=0;MQRankSum=0.779;QD=12.86;ReadPosRankSum=-0.334;VQSLOD=3.8900;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:82,77:159:99:2075,0,2091 17 43342141 43342141 G C exonic MAP3K14 unknown UNKNOWN 0.72 0.78 0.77 0.71 0.71 0.62 0.7173 0.7809 0.7389 0.7308 0.7026 0.7191 0.7055 0.6568 0.75 0.79 0.72 0.67 . rs1047833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7161 0.7768 0.7514 0.6810 0.7327 0.6971 0.7197 0.7043 0.6525 0.7495 0.7872 0.7560 0.6987 0.7321 0.7081 0.7416 0.7224 het 496.04 51 17 43342141 . G C 496.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.215;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;MQRankSum=0.622;QD=9.73;ReadPosRankSum=0.048;VQSLOD=6.2502;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,21:51:99:526,0,850 17 43364293 43364293 - G exonic MAP3K14 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1 1 0.9999 1. 1. 1. . . rs56405343 COSM5022185 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9999 1 1 1 1.0000 1 1 1 1 1 1 1 1 hom 3155.95 77 17 43364293 . C CG 3155.95 Mask AC=2;AF=1.00;AN=2;DP=77;FS=0.000;HRun=1;HaplotypeScore=170.5425;MQ=60.02;MQ0=0;QD=40.99;set=variant2 GT:AD:DP:GQ:PL 1/1:1,76:77:99:3198,217,0 17 43923180 43923180 G A exonic SPPL2C nonsynonymous SNV SPPL2C:NM_175882:exon1:c.G908A:p.R303H 0.61 0.37 0.64 0.8 0.56 0.77 0.6209 0.3745 0.7379 0.8090 0.7158 0.5699 0.6145 0.7635 0.5 0.39 0.56 0.41 0.48 rs242944 COSM4130166 1(thyroid) . . . . . . . . . . . 0.306 0.142 T 0.026 0.181 B 0.021 0.181 B . . . 1.000 0.186 P 0.64 0.161 N 2.25 0.178 T -2.41 0.529 N 0.062 0.047 -1.016 0.249 T 0.000 0.000 T . . . -2.165 0.006 0.001 0.869 0.163 0.007 0.029 N c -1.802 -1.881 0.244 0.186 0.497 0.185 0 -8.51 0.008 0.009 0.130 -1.349 0.013 0.000 0.063 0.000 0.016 5.449 0.157 . ENSG00000264070.1|ENSG00000120088.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000264070.1|ENSG00000214401.4|ENSG00000176681.10|ENSG00000120088.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000120088.10|ENSG00000262539.1|ENSG00000262500.1|ENSG00000238083.3|ENSG00000204650.9|ENSG00000264070.1|ENSG00000120088.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000264070.1|ENSG00000214401.4|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000120088.10|ENSG00000238083.3|ENSG00000204650.9|ENSG00000264070.1|ENSG00000120088.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000263503.1|ENSG00000261575.2|ENSG00000225190.4|ENSG00000214425.2|ENSG00000238083.3|ENSG00000261575.2|ENSG00000131484.3|ENSG00000225190.4|ENSG00000262539.1|ENSG00000214425.2|ENSG00000214401.4|ENSG00000225190.4|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000214425.2|ENSG00000204650.9|ENSG00000264070.1|ENSG00000214401.4|ENSG00000176681.10|ENSG00000131484.3|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000204650.9|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000159314.7|ENSG00000264070.1|ENSG00000120088.10|ENSG00000131484.3|ENSG00000262539.1|ENSG00000214425.2|ENSG00000204650.9|ENSG00000214401.4|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000264070.1|ENSG00000214401.4|ENSG00000262539.1|ENSG00000214425.2|ENSG00000120088.10|ENSG00000238083.3|ENSG00000263503.1|ENSG00000204650.9|ENSG00000264070.1|ENSG00000214401.4|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000204650.9|ENSG00000264070.1|ENSG00000214401.4|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000176681.10|ENSG00000238083.3|ENSG00000204650.9|ENSG00000264070.1|ENSG00000131484.3|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000186868.11|ENSG00000262500.1|ENSG00000238083.3|ENSG00000264070.1|ENSG00000228696.4|ENSG00000120088.10|ENSG00000108379.5|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000264070.1|ENSG00000214401.4|ENSG00000176681.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000204650.9|ENSG00000264070.1|ENSG00000214401.4|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000263503.1|ENSG00000204650.9|ENSG00000264070.1|ENSG00000262539.1|ENSG00000262500.1|ENSG00000264070.1|ENSG00000120088.10|ENSG00000131484.3|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000264070.1|ENSG00000120088.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000204650.9|ENSG00000214401.4|ENSG00000186868.11|ENSG00000264589.1|ENSG00000262500.1|ENSG00000238083.3|ENSG00000264070.1|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000204652.5|ENSG00000214401.4|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000264070.1|ENSG00000214401.4|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000204650.9|ENSG00000214401.4|ENSG00000262539.1|ENSG00000204650.9|ENSG00000264070.1|ENSG00000262539.1|ENSG00000214425.2|ENSG00000204650.9|ENSG00000264070.1|ENSG00000214401.4|ENSG00000120088.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000159314.7|ENSG00000263503.1|ENSG00000204650.9|ENSG00000264070.1|ENSG00000120088.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000262500.1|ENSG00000238083.3|ENSG00000159314.7|ENSG00000264070.1|ENSG00000214401.4|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000264070.1|ENSG00000214401.4|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000176681.10|ENSG00000120088.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000204650.9|ENSG00000264070.1|ENSG00000120088.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000204650.9|ENSG00000214401.4|ENSG00000261575.2|ENSG00000186868.11|ENSG00000264589.1|ENSG00000262500.1|ENSG00000264070.1|ENSG00000120088.10|ENSG00000108379.5|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000204650.9|ENSG00000264070.1|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000214401.4|ENSG00000262500.1|ENSG00000238083.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Spleen|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Stomach|Stomach|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.6271 0.3711 0.7141 0.5351 0.8017 0.7167 0.5658 0.6039 0.7648 0.5518 0.3862 0.6623 0.5733 0.7916 0.6996 0.5773 0.6104 hom 3823.26 123 17 43923180 . G A 3823.26 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.408;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3105;MQ=60.00;MQ0=0;MQRankSum=0.389;QD=31.08;ReadPosRankSum=-0.515;VQSLOD=6.8232;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,115:123:99:3823,325,0 17 43923898 43923898 A G exonic SPPL2C synonymous SNV SPPL2C:NM_175882:exon1:c.A1626G:p.S542S 0.89 0.69 0.92 1. 0.92 0.98 0.9058 0.7264 0.9500 0.9997 0.9241 0.8969 0.8947 0.9663 0.84 0.73 0.9 0.87 0.28 rs171443 COSM4130167 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9100 0.7244 0.9416 0.8976 0.9996 0.9249 0.8947 0.9100 0.9668 0.8530 0.7265 0.9260 0.8775 1 0.9264 0.8870 0.8837 hom 3595.41 105 17 43923898 . A G 3595.41 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6839;MQ=59.56;MQ0=0;QD=34.24;VQSLOD=7.1987;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,104:105:99:3595,298,0 17 44109474 44109474 G A exonic KANSL1 nonsynonymous SNV KANSL1:NM_001193466:exon14:c.C3029T:p.P1010L,KANSL1:NM_015443:exon14:c.C3029T:p.P1010L,KANSL1:NM_001193465:exon15:c.C3026T:p.P1009L 0.31 0.22 0.27 0.11 0.36 0.64 0.3775 0.2535 0.2726 0.1141 0.4292 0.3935 0.3863 0.5808 0.35 0.25 0.4 0.15 0.066 rs7220988 COSM4130172 1(thyroid) Benign|Benign Intellectual_disability_syndrome|MAPT-Related_Spectrum_Disorders RCV000385034.1|RCV000389204.1 MedGen|MedGen CN225187|CN239327 . . . . . . 0.738 0.037 T 0.0 0.026 B 0.0 0.013 B 0.031 0.252 N 0.242 0.363 P -1.1 0.010 N 1.05 0.400 T 0.65 0.023 N 0.053 0.035 -0.943 0.422 T 0.000 0.000 T . . . 2.278 0.335 18.02 0.940 0.235 0.354 0.251 N c -0.473 -0.213 0.961 0.285 0.707 0.730 0 4.63 0.570 4.159 0.577 -0.010 0.132 0.987 0.361 0.613 0.291 6.901 0.233 PEHE domain ENSG00000264070.1|ENSG00000120088.10|ENSG00000120071.8|ENSG00000214425.2|ENSG00000204650.9|ENSG00000260075.1|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000260075.1|ENSG00000120071.8|ENSG00000204650.9|ENSG00000176681.10|ENSG00000262500.1|ENSG00000204650.9|ENSG00000120071.8|ENSG00000214425.2|ENSG00000204650.9|ENSG00000176681.10|ENSG00000264070.1|ENSG00000266918.1|ENSG00000120071.8|ENSG00000262539.1|ENSG00000214425.2|ENSG00000204650.9|ENSG00000260075.1|ENSG00000176681.10|ENSG00000176681.10|ENSG00000176681.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000238083.3|ENSG00000176681.10|ENSG00000176681.10|ENSG00000238083.3|ENSG00000264070.1|ENSG00000120071.8|ENSG00000214425.2|ENSG00000204650.9|ENSG00000264070.1|ENSG00000120088.10|ENSG00000214425.2|ENSG00000204650.9|ENSG00000238083.3|ENSG00000176681.10|ENSG00000120071.8|ENSG00000214425.2|ENSG00000262500.1|ENSG00000238083.3|ENSG00000204650.9|ENSG00000263142.1|ENSG00000266918.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000176681.10|ENSG00000225190.4|ENSG00000120071.8|ENSG00000214425.2|ENSG00000204650.9|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000176681.10|ENSG00000176681.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000238083.3|ENSG00000214425.2|ENSG00000264070.1|ENSG00000120088.10|ENSG00000131484.3|ENSG00000120071.8|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000260075.1|ENSG00000214401.4|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000264070.1|ENSG00000262539.1|ENSG00000214425.2|ENSG00000204650.9|ENSG00000260075.1|ENSG00000176681.10|ENSG00000186868.11|ENSG00000262500.1|ENSG00000238083.3|ENSG00000120071.8|ENSG00000214425.2|ENSG00000204650.9|ENSG00000262500.1|ENSG00000120071.8|ENSG00000176681.10|ENSG00000262539.1|ENSG00000214425.2|ENSG00000262500.1|ENSG00000204650.9|ENSG00000264070.1|ENSG00000131484.3|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000260075.1|ENSG00000262500.1|ENSG00000120071.8|ENSG00000120071.8|ENSG00000262539.1|ENSG00000120071.8|ENSG00000262539.1|ENSG00000214425.2|ENSG00000186868.11|ENSG00000262500.1|ENSG00000264070.1|ENSG00000120071.8|ENSG00000108379.5|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000260075.1|ENSG00000176681.10|ENSG00000262500.1|ENSG00000238083.3|ENSG00000264070.1|ENSG00000266918.1|ENSG00000228696.4|ENSG00000131484.3|ENSG00000266497.1|ENSG00000120071.8|ENSG00000262539.1|ENSG00000214425.2|ENSG00000260075.1|ENSG00000262500.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3767 0.2503 0.2745 0.4165 0.1144 0.4380 0.3950 0.3698 0.5759 0.3503 0.2557 0.2626 0.4768 0.1015 0.4222 0.4141 0.4088 het 1415.89 110 17 44109474 . G A 1415.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.721;DP=110;Dels=0.00;FS=0.732;HRun=0;HaplotypeScore=6.3074;MQ=59.21;MQ0=0;MQRankSum=0.446;QD=12.87;ReadPosRankSum=0.307;VQSLOD=5.1945;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,58:110:99:1446,0,1339 17 44144993 44144993 C G exonic KANSL1 nonsynonymous SNV KANSL1:NM_001193466:exon5:c.G1574C:p.R525P,KANSL1:NM_015443:exon5:c.G1574C:p.R525P,KANSL1:NM_001193465:exon6:c.G1574C:p.R525P 1. 1. 1. 1. 1. 1. 0.9997 0.9968 0.9999 1 1 1 1 1 1. 1. 1. 1. . rs144838667 . . Benign not_specified RCV000418869.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9959 0.9999 1 1 1 1 1 1 0.9987 0.9958 0.9988 1 1 1 0.9999 1 hom 2855.01 88 17 44144993 . C G 2855.01 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=32.44;VQSLOD=7.7896;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2888,220,0 17 44248499 44248499 G C exonic KANSL1 synonymous SNV KANSL1:NM_001193466:exon2:c.C1011G:p.S337S,KANSL1:NM_015443:exon2:c.C1011G:p.S337S,KANSL1:NM_001193465:exon3:c.C1011G:p.S337S 0.19 0.0076 0.3 0.41 0.19 0.14 0.2105 0.0314 0.4114 0.4340 0.3059 0.1789 0.1938 0.1558 0.12 0.038 0.17 0.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2178 0.0301 0.3836 0.1068 0.4221 0.2943 0.1754 0.1930 0.1544 0.1661 0.0349 0.3417 0.1060 0.4233 0.2906 0.1743 0.2140 het 1600.67 198 17 44248499 . G C 1600.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.037;DP=198;Dels=0.00;FS=2.569;HRun=0;HaplotypeScore=6.5059;MQ=59.13;MQ0=0;MQRankSum=-0.991;QD=8.08;ReadPosRankSum=-1.066;VQSLOD=3.3586;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:126,72:198:99:1631,0,3576 17 44248848 44248848 G A exonic KANSL1 nonsynonymous SNV KANSL1:NM_001193466:exon2:c.C662T:p.T221I,KANSL1:NM_015443:exon2:c.C662T:p.T221I,KANSL1:NM_001193465:exon3:c.C662T:p.T221I 0.06 0.003 0.055 0.002 0.18 0.082 0.1230 0.0242 0.0442 0.0006 0.2280 0.1628 0.1236 0.1015 0.11 0.032 0.15 0.087 0.16 . COSM3755599 1(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.009 0.574 D 0.944 0.512 P 0.451 0.443 P 0.004 0.340 N 0.998 0.588 P 1.24 0.311 L 2.66 0.126 T -0.59 0.176 N 0.246 0.301 -0.945 0.418 T 0.000 0.000 T . . . 3.579 0.487 23.2 0.983 0.400 0.909 0.523 D c -0.285 -0.189 1.000 0.747 0.707 0.730 0 3.32 0.370 4.537 0.601 -0.269 0.086 1.000 0.715 0.941 0.415 10.595 0.443 . ENSG00000262539.1|ENSG00000260075.1|ENSG00000214401.4|ENSG00000185829.11|ENSG00000262500.1|ENSG00000260075.1|ENSG00000185829.11|ENSG00000260075.1|ENSG00000214401.4|ENSG00000185829.11|ENSG00000260075.1|ENSG00000185829.11|ENSG00000260075.1|ENSG00000185829.11|ENSG00000185829.11|ENSG00000260075.1|ENSG00000185829.11|ENSG00000073969.14|ENSG00000260075.1|ENSG00000185829.11|ENSG00000176681.10|ENSG00000185829.11|ENSG00000185829.11|ENSG00000260075.1|ENSG00000185829.11|ENSG00000228696.4|ENSG00000214401.4|ENSG00000185829.11|ENSG00000262500.1|ENSG00000260075.1|ENSG00000185829.11|ENSG00000185829.11|ENSG00000260075.1|ENSG00000214401.4|ENSG00000185829.11|ENSG00000260075.1|ENSG00000266918.1|ENSG00000228696.4|ENSG00000260075.1|ENSG00000214401.4|ENSG00000185829.11|ENSG00000260075.1|ENSG00000185829.11|ENSG00000073969.14|ENSG00000260075.1|ENSG00000185829.11|ENSG00000228696.4|ENSG00000260075.1|ENSG00000185829.11|ENSG00000260075.1|ENSG00000214401.4|ENSG00000185829.11|ENSG00000176681.10|ENSG00000073969.14|ENSG00000266918.1|ENSG00000260075.1|ENSG00000214401.4|ENSG00000185829.11|ENSG00000260075.1|ENSG00000260075.1|ENSG00000185829.11|ENSG00000266918.1|ENSG00000260075.1|ENSG00000185829.11|ENSG00000266918.1|ENSG00000262539.1|ENSG00000204650.9|ENSG00000260075.1|ENSG00000214401.4|ENSG00000185829.11|ENSG00000260075.1|ENSG00000185829.11|ENSG00000176681.10|ENSG00000238083.3|ENSG00000266918.1|ENSG00000204650.9|ENSG00000260075.1|ENSG00000214401.4|ENSG00000185829.11|ENSG00000266918.1|ENSG00000120071.8|ENSG00000262539.1|ENSG00000214425.2|ENSG00000263503.1|ENSG00000204650.9|ENSG00000260075.1|ENSG00000214401.4|ENSG00000262500.1|ENSG00000238083.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.1181 0.0244 0.0438 0.0770 0.0005 0.2133 0.1626 0.1137 0.0959 0.1179 0.0289 0.0632 0.0861 0.0012 0.2201 0.1598 0.1557 het 2004.74 250 17 44248848 . G A 2004.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.117;DP=250;DS;Dels=0.00;FS=2.304;HRun=3;HaplotypeScore=3.7103;MQ=59.39;MQ0=0;MQRankSum=0.128;QD=8.02;ReadPosRankSum=-0.148;VQSLOD=5.7152;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:167,83:250:99:2035,0,4729 17 44950122 44950122 T C exonic WNT9B nonsynonymous SNV WNT9B:NM_001320458:exon2:c.T317C:p.M106T,WNT9B:NM_003396:exon2:c.T317C:p.M106T 0.71 0.94 0.64 0.46 0.75 0.65 0.7147 0.9042 0.6066 0.4460 0.7722 0.7393 0.7535 0.6975 0.79 0.91 0.73 0.66 0.56 rs4968281 COSM4130181;COSM4130180 1(skin);1(thyroid) . . . . . . . . . . . 0.627 0.052 T 0.0 0.026 B 0.0 0.013 B 0.941 0.083 N 1 0.090 P -0.895 0.014 N -0.87 0.746 T 0.85 0.021 N 0.343 0.404 -0.995 0.314 T 0.000 0.000 T . . . -1.429 0.019 0.003 0.328 0.019 0.008 0.033 N c -1.418 -1.327 0.001 0.073 0.497 0.185 0 -0.034 0.132 0.834 0.270 -1.352 0.013 0.106 0.227 0.103 0.190 2.219 0.037 . ENSG00000108379.5|ENSG00000228696.4|ENSG00000228696.4|ENSG00000120071.8|ENSG00000228696.4|ENSG00000120071.8|ENSG00000120071.8 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Nerve_Tibial|Thyroid|Whole_Blood 0.7055 0.9068 0.6145 0.6497 0.4431 0.7680 0.7430 0.7237 0.6896 0.7775 0.9044 0.6505 0.61 0.4555 0.7884 0.7472 0.7547 hom 707.91 27 17 44950122 . T C 707.91 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.86;MQ0=0;QD=26.22;VQSLOD=7.7413;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,26:27:60.18:741,60,0 17 45008570 45008570 G A exonic GOSR2 nonsynonymous SNV GOSR2:NM_001012511:exon3:c.G200A:p.R67K,GOSR2:NM_001321133:exon3:c.G200A:p.R67K,GOSR2:NM_001321134:exon3:c.G146A:p.R49K,GOSR2:NM_001330252:exon3:c.G200A:p.R67K,GOSR2:NM_004287:exon3:c.G200A:p.R67K,GOSR2:NM_054022:exon3:c.G200A:p.R67K 0.35 0.29 0.25 0.36 0.36 0.46 0.3510 0.3053 0.3003 0.3688 0.3773 0.3419 0.3825 0.4299 0.32 0.31 0.33 0.28 0.31 rs197922 COSM5828550;COSM3755611;COSM3755609;COSM3755610 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign not_specified|Progressive_myoclonic_epilepsy RCV000117154.4|RCV000276471.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0751778:310370:ORPHA98261:267581004 . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.063 B 0.000 0.843 N 0.998 0.224 P -1.7 0.004 N 0.73 0.507 T 2.36 0.003 N 0.036 0.176 -0.963 0.387 T 0.000 0.000 T . . . 1.246 0.215 11.99 0.737 0.101 0.407 0.263 N c -0.766 -0.471 0.996 0.341 0.722 0.854 0 4.78 0.605 3.761 0.547 0.244 0.267 1.000 0.715 0.998 0.697 9.229 0.364 t-SNARE ENSG00000179673.3 Muscle_Skeletal 0.3463 0.2979 0.2955 0.2406 0.3672 0.3792 0.3459 0.3378 0.4267 0.3335 0.2920 0.3007 0.2616 0.3773 0.3890 0.3419 0.3541 hom 2378.70 73 17 45008570 . G A 2378.70 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9262;MQ=59.68;MQ0=0;QD=32.58;VQSLOD=9.1686;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2412,190,0 17 45234407 45234407 A - exonic CDC27 frameshift deletion CDC27:NM_001293091:exon6:c.531delT:p.V178fs*0,CDC27:NM_001114091:exon7:c.714delT:p.V239fs*0,CDC27:NM_001256:exon7:c.714delT:p.V239fs*0,CDC27:NM_001293089:exon7:c.714delT:p.V239fs*0 . . . . . . 0.4952 0.4821 0.4993 0.4991 0.4997 0.4943 0.4955 0.4995 . . . . 0.23 rs112848754 COSM4590002;COSM4590001 1(stomach);1(skin);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4980 0.4905 0.4999 0.4980 0.4999 0.5 0.4972 0.4987 0.4998 0.2145 0.2530 0.3398 0.1619 0.3832 0.3528 0.1472 0.2409 het 1993.52 118 17 45234406 . CA C 1993.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.634;DP=118;FS=7.666;HRun=1;HaplotypeScore=787.9733;MQ=46.20;MQ0=9;MQRankSum=-4.934;QD=13.94;ReadPosRankSum=1.593;set=variant2 GT:AD:DP:GQ:PL 0/1:65,78:118:99:2033,0,2412 17 45360730 45360730 T C exonic ITGB3 nonsynonymous SNV ITGB3:NM_000212:exon3:c.T176C:p.L59P 0.089 0.091 0.1 0.0089 0.13 0.11 0.1235 0.1042 0.0730 0.0031 0.1408 0.1553 0.1208 0.0989 0.14 0.11 0.15 0.065 0.13 rs5918 COSM4985692;COSM4985691;COSM4985693 1(soft_tissue) Benign|Pathogenic|Pathogenic|other|other|Benign|Likely benign PL(A1)/(A2)_ALLOANTIGEN_POLYMORPHISM|Thrombocytopenia\x2c_neonatal_alloimmune|Posttransfusion_purpura|Myocardial_infarction|Fracture\x2c_hip\x2c_susceptibility_to|not_specified|Glanzmann_thrombasthenia RCV000014519.4|RCV000014520.21|RCV000014521.27|RCV000014522.4|RCV000014524.4|RCV000246922.1|RCV000383813.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C0473780|C0398648|C0027051:22298006|C2674640|CN169374|C0040015:273800:ORPHA849:32942005 . . . . . . 0.316 0.137 T 0.003 0.102 B 0.005 0.104 B 0.880 0.072 N 1.000 0.195 P 0.205 0.094 N -3.04 0.924 D 0.63 0.024 N 0.072 0.083 -0.903 0.477 T 0.007 0.023 T . . . -1.889 0.010 0.002 0.425 0.031 0.020 0.059 N c -1.903 -2.058 1.000 0.747 0.707 0.730 0 -11.8 0.000 -1.346 0.027 -0.876 0.028 0.000 0.063 0.210 0.219 9.907 0.404 Integrin beta subunit\x2c N-terminal ENSG00000259207.3|ENSG00000198933.5|ENSG00000198933.5|ENSG00000198933.5|ENSG00000198933.5|ENSG00000198933.5|ENSG00000263293.1 Artery_Aorta|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.1213 0.1066 0.0752 0.1562 0.0029 0.1444 0.1539 0.1360 0.0967 0.1318 0.0996 0.1086 0.1159 0.0043 0.1406 0.1633 0.1408 het 1283.60 136 17 45360730 . T C 1283.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.590;DP=136;Dels=0.00;FS=3.311;HRun=1;HaplotypeScore=3.7488;MQ=59.54;MQ0=0;MQRankSum=0.226;QD=9.44;ReadPosRankSum=0.621;VQSLOD=5.6992;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,55:136:99:1314,0,2238 17 45368337 45368337 A C exonic ITGB3 synonymous SNV ITGB3:NM_000212:exon9:c.A1143C:p.V381V 0.43 0.41 0.36 0.55 0.37 0.45 0.3902 0.4307 0.2727 0.5880 0.3131 0.3720 0.3899 0.4478 0.39 0.42 0.37 0.37 0.34 rs15908 . . Benign|Benign not_specified|Glanzmann_thrombasthenia RCV000245014.1|RCV000336334.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0040015:273800:ORPHA849:32942005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3862 0.4337 0.2855 0.4313 0.5844 0.3295 0.3687 0.3966 0.4495 0.3933 0.4354 0.3222 0.4033 0.6072 0.3199 0.3673 0.3834 het 2960.17 244 17 45368337 . A C 2960.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.199;DP=244;Dels=0.00;FS=2.194;HRun=0;HaplotypeScore=1.5810;MQ=59.24;MQ0=0;MQRankSum=-2.045;QD=12.13;ReadPosRankSum=-1.372;VQSLOD=5.2170;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,123:244:99:2990,0,3101 17 45369777 45369777 A G exonic ITGB3 synonymous SNV ITGB3:NM_000212:exon10:c.A1533G:p.E511E 0.29 0.26 0.27 0.33 0.29 0.29 0.2871 0.2675 0.2199 0.3472 0.2787 0.2930 0.2781 0.2953 0.28 0.27 0.29 0.3 0.26 rs4642 COSM1383909;COSM4000179;COSM1383908 2(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Glanzmann_thrombasthenia RCV000249975.1|RCV000337655.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0040015:273800:ORPHA849:32942005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2856 0.2664 0.2278 0.2884 0.3449 0.2896 0.2934 0.2937 0.2913 0.2891 0.2635 0.2566 0.2649 0.3493 0.2818 0.3007 0.3027 het 2378.54 153 17 45369777 . A G 2378.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.298;DP=153;Dels=0.00;FS=5.841;HRun=0;HaplotypeScore=3.8052;MQ=59.55;MQ0=0;MQRankSum=0.189;QD=15.55;ReadPosRankSum=2.979;VQSLOD=3.7137;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,84:153:99:2409,0,1962 17 45369789 45369789 G A exonic ITGB3 synonymous SNV ITGB3:NM_000212:exon10:c.G1545A:p.R515R 0.29 0.26 0.27 0.33 0.29 0.29 0.2873 0.2676 0.2197 0.3475 0.2786 0.2932 0.2781 0.2961 0.28 0.27 0.29 0.29 0.25 rs4634 COSM4000180;COSM1383913;COSM1383912 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Glanzmann_thrombasthenia RCV000241947.1|RCV000394843.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0040015:273800:ORPHA849:32942005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2856 0.2665 0.2277 0.2886 0.3449 0.2898 0.2933 0.2937 0.2915 0.2890 0.2638 0.2560 0.2649 0.3502 0.2815 0.3001 0.3041 het 2855.19 193 17 45369789 . G A 2855.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.650;DP=193;Dels=0.00;FS=2.191;HRun=0;HaplotypeScore=5.7085;MQ=59.52;MQ0=0;MQRankSum=-1.923;QD=14.79;ReadPosRankSum=1.913;VQSLOD=3.1415;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,104:193:99:2885,0,2554 17 45811210 45811210 A G exonic TBX21 synonymous SNV TBX21:NM_013351:exon1:c.A390G:p.G130G 0.28 0.29 0.34 0.11 0.26 0.42 0.3423 0.3523 0.4887 0.1308 0.3635 0.3177 0.3138 0.4166 0.27 0.27 0.26 0.15 0.098 rs2074190 COSM436765 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2965 0.3005 0.4024 0.2887 0.0980 0.2957 0.2702 0.2975 0.3851 0.275 0.2925 0.3681 0.2633 0.0937 0.2858 0.2770 0.2742 het 185.49 15 17 45811210 . A G 185.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.372;DP=15;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.4203;MQ=60.00;MQ0=0;MQRankSum=-1.099;QD=12.37;ReadPosRankSum=-0.058;VQSLOD=5.9649;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,7:15:99:215,0,222 17 45885687 45885687 A G exonic OSBPL7 synonymous SNV OSBPL7:NM_145798:exon23:c.T2499C:p.Y833Y 0.84 0.77 0.87 0.82 0.95 0.81 0.9032 0.8226 0.8353 0.8089 0.9794 0.9480 0.9229 0.8380 0.91 0.83 0.95 0.81 0.92 rs9907142 COSM1750105 2(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9039 0.8166 0.8435 0.9229 0.8131 0.9785 0.9483 0.9257 0.8397 0.9056 0.8204 0.8735 0.9272 0.8179 0.9794 0.9466 0.9397 hom 2362.98 81 17 45885687 . A G 2362.98 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=59.72;MQ0=0;QD=29.17;VQSLOD=8.5912;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2396,208,0 17 45885756 45885756 C T exonic OSBPL7 synonymous SNV OSBPL7:NM_145798:exon23:c.G2430A:p.T810T 0.47 0.7 0.44 0.15 0.53 0.47 0.5139 0.7127 0.3803 0.1504 0.5504 0.5562 0.4878 0.4884 0.61 0.7 0.56 0.56 0.61 rs9911983 COSM3755618 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5044 0.7088 0.3864 0.5778 0.1540 0.5347 0.5572 0.5212 0.4886 0.5659 0.7076 0.4093 0.6026 0.1545 0.5352 0.5461 0.5216 het 1406.57 129 17 45885756 . C T 1406.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.193;DP=129;Dels=0.00;FS=2.303;HRun=0;HaplotypeScore=3.4641;MQ=59.03;MQ0=0;MQRankSum=-0.987;QD=10.90;ReadPosRankSum=-1.180;VQSLOD=5.5704;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,53:129:99:1437,0,2007 17 45915788 45915788 T C exonic SCRN2 nonsynonymous SNV SCRN2:NM_001145023:exon7:c.A967G:p.M323V,SCRN2:NM_138355:exon7:c.A967G:p.M323V 0.98 1. 0.92 1. 0.98 0.99 0.9747 0.9958 0.8618 0.9981 0.9881 0.9828 0.9779 0.9913 0.99 1. 0.98 0.99 0.94 rs7350974 . . . . . . . . . . . . . 0.403 0.104 T 0.0 0.026 B 0.0 0.013 B 0.848 0.070 N 1 0.090 P -2.08 0.002 N 3.2 0.073 T 0.19 0.059 N 0.021 0.160 -0.996 0.311 T 0.000 0.000 T . . . -1.016 0.031 0.015 0.631 0.069 0.008 0.031 N c -1.325 -1.197 0.994 0.334 0.732 0.924 0 2.45 0.288 -0.212 0.092 0.069 0.176 0.000 0.063 0.080 0.181 8.608 0.328 . . . 0.9708 0.9958 0.8710 0.9821 0.9983 0.9881 0.9823 0.9769 0.9919 0.9844 0.9946 0.9057 0.9768 0.9988 0.9891 0.9803 0.9857 hom 3669.70 113 17 45915788 . T C 3669.70 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.3671;MQ=59.18;MQ0=0;QD=32.48;VQSLOD=6.6205;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3669,295,0 17 45994044 45994044 C T exonic SP2 synonymous SNV SP2:NM_003110:exon3:c.C607T:p.L203L 0.57 0.61 0.48 0.77 0.46 0.46 0.4818 0.5924 0.4344 0.7599 0.4298 0.4400 0.4923 0.4893 0.49 0.59 0.44 0.6 0.4 rs2228253 COSM3937437 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4810 0.5874 0.4390 0.5204 0.7595 0.4483 0.4359 0.4898 0.4901 0.5071 0.5765 0.4714 0.5298 0.7581 0.4696 0.4522 0.4733 hom 2786.57 93 17 45994044 . C T 2786.57 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.694;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7744;MQ=59.75;MQ0=0;MQRankSum=-0.476;QD=29.96;ReadPosRankSum=1.199;VQSLOD=7.9794;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,92:93:99:2820,229,0 17 45994094 45994094 T C exonic SP2 synonymous SNV SP2:NM_003110:exon3:c.T657C:p.L219L 0.57 0.61 0.48 0.78 0.46 0.46 0.4824 0.5929 0.4358 0.7618 0.4301 0.4404 0.4912 0.4895 0.49 0.59 0.44 0.6 0.39 rs2228251 COSM3937438 1(bone);1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4813 0.5878 0.4396 0.5201 0.7602 0.4487 0.4362 0.4898 0.4901 0.5073 0.5771 0.4726 0.5298 0.7575 0.4696 0.4524 0.4734 hom 2745.70 90 17 45994094 . T C 2745.70 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=30.51;VQSLOD=9.2984;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2779,229,0 17 45994154 45994154 G A exonic SP2 synonymous SNV SP2:NM_003110:exon3:c.G717A:p.P239P 0.49 0.35 0.46 0.77 0.46 0.46 0.4601 0.3635 0.4227 0.7625 0.4300 0.4379 0.4802 0.4894 0.41 0.37 0.43 0.47 0.38 rs2229358 COSM3937439 1(oesophagus);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4629 0.3552 0.4243 0.5030 0.7597 0.4487 0.4346 0.4752 0.4894 0.4416 0.3495 0.4547 0.5066 0.7568 0.4696 0.4513 0.4631 hom 3566.07 114 17 45994154 . G A 3566.07 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6242;MQ=59.14;MQ0=0;QD=31.28;VQSLOD=8.5112;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3565,289,0 17 46002744 46002744 G T exonic SP2 synonymous SNV SP2:NM_003110:exon6:c.G1578T:p.V526V 0.5 0.38 0.47 0.77 0.46 0.46 0.4628 0.3925 0.4269 0.7606 0.4298 0.4371 0.4813 0.4929 0.42 0.4 0.43 0.5 0.38 rs1130932 COSM292333 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4643 0.3845 0.4275 0.4971 0.7582 0.4484 0.4332 0.4770 0.4904 0.4502 0.3802 0.4592 0.5 0.7578 0.4699 0.4510 0.4633 hom 8333.91 250 17 46002744 . G T 8333.91 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3198;MQ=59.91;MQ0=0;QD=33.34;VQSLOD=7.5840;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8333,668,0 17 46262171 46262171 C T exonic SKAP1 nonsynonymous SNV SKAP1:NM_001075099:exon7:c.G481A:p.G161S,SKAP1:NM_003726:exon7:c.G481A:p.G161S 0.61 0.36 0.65 0.78 0.59 0.75 0.6226 0.3907 0.7322 0.7593 0.6315 0.5989 0.6200 0.7124 0.53 0.4 0.6 0.65 0.67 rs2278868 COSM1179686 1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.036 0.246 N 1.000 0.197 P -1.935 0.002 N -0.8 0.739 T 1.9 0.005 N 0.037 0.052 -0.929 0.443 T 0.000 0.000 T . . . 1.950 0.295 15.90 0.817 0.134 0.112 0.163 N c -0.896 -0.572 0.968 0.290 0.707 0.730 0 5.37 0.769 1.311 0.329 0.090 0.195 0.948 0.327 0.989 0.536 6.869 0.231 PH domain-like|Pleckstrin homology domain ENSG00000002919.10|ENSG00000002919.10|ENSG00000141293.11|ENSG00000002919.10|ENSG00000002919.10|ENSG00000002919.10|ENSG00000002919.10|ENSG00000002919.10|ENSG00000263412.1|ENSG00000002919.10|ENSG00000002919.10|ENSG00000002919.10|ENSG00000005243.5|ENSG00000263412.1|ENSG00000263412.1|ENSG00000002919.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Whole_Blood 0.6288 0.3847 0.7211 0.5708 0.7566 0.6179 0.5999 0.6106 0.7123 0.5545 0.4000 0.6921 0.5960 0.7608 0.6081 0.5981 0.5980 het 1867.26 148 17 46262171 . C T 1867.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.096;DP=148;Dels=0.00;FS=0.847;HRun=0;HaplotypeScore=3.2798;MQ=59.06;MQ0=0;MQRankSum=0.000;QD=12.62;ReadPosRankSum=0.008;VQSLOD=6.5531;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,65:148:99:1897,0,2110 17 46607021 46607021 T C exonic HOXB1 nonsynonymous SNV HOXB1:NM_002144:exon2:c.A794G:p.E265G 0.99 0.95 1. 1. 1. 1. 0.9955 0.9501 0.9984 1 1 0.9999 0.9967 0.9999 0.98 0.95 1. 0.99 1. rs7226137 COSM4130340 1(thyroid) . . . . . . . . . . . 0.739 0.037 T 0.0 0.026 B 0.0 0.013 B 0.000 0.473 N 0.761 0.810 P -1.955 0.002 N -2.53 0.894 D 4.5 0.000 N 0.053 0.041 -0.935 0.434 T 0.000 0.000 T . . . 1.482 0.240 13.22 0.766 0.112 0.104 0.158 N c -0.757 -0.479 1.000 0.747 0.497 0.185 0 5.19 0.713 3.094 0.497 0.069 0.176 0.999 0.424 0.796 0.335 6.306 0.202 Homeobox domain|Homeodomain-like . . 0.9964 0.9481 0.9978 1 1 1 0.9999 0.9982 0.9998 0.9866 0.9532 0.9952 1 1 1 1 0.9980 hom 6457.99 213 17 46607021 . T C 6457.99 Mask AC=2;AF=1.00;AN=2;DP=213;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7613;MQ=59.04;MQ0=0;QD=30.32;VQSLOD=8.9007;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,213:213:99:6457,524,0 17 46607817 46607817 C T exonic HOXB1 synonymous SNV HOXB1:NM_002144:exon1:c.G450A:p.A150A 0.13 0.11 0.12 0.097 0.2 0.13 0.1754 0.1187 0.1207 0.0811 0.2268 0.2129 0.1770 0.1263 0.18 0.12 0.21 0.14 0.18 rs7207109 COSM4130341 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1752 0.1173 0.1217 0.2008 0.0886 0.2227 0.2131 0.1910 0.1282 0.1745 0.1175 0.1340 0.1689 0.0947 0.2226 0.2060 0.1977 het 760.74 65 17 46607817 . C T 760.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.263;DP=65;Dels=0.00;FS=13.881;HRun=1;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;MQRankSum=-0.495;QD=11.70;ReadPosRankSum=0.231;VQSLOD=4.2733;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,29:65:99:791,0,995 17 46607958 46607958 T A exonic HOXB1 nonsynonymous SNV HOXB1:NM_002144:exon1:c.A309T:p.Q103H 0.11 0.065 0.1 0.098 0.19 0.13 0.1622 0.0779 0.1098 0.0819 0.2252 0.1984 0.1630 0.1220 0.15 0.078 0.19 0.12 0.13 rs12939811 COSM4985798 4(soft_tissue) . . . . . . . . . . . 0.015 0.524 D 0.641 0.385 P 0.19 0.347 B 0.001 0.415 D 1 0.090 P 1.845 0.488 L -2.58 0.898 D -2.33 0.516 N 0.082 0.089 -0.903 0.477 T 0.001 0.003 T . . . -0.726 0.044 0.063 0.831 0.140 0.059 0.117 N c -1.112 -1.280 1.000 0.517 0.497 0.185 0 -5.68 0.022 -1.425 0.025 -0.642 0.041 0.007 0.175 0.976 0.476 11.797 0.512 . ENSG00000173917.9|ENSG00000230148.4|ENSG00000120093.7|ENSG00000173917.9|ENSG00000230148.4|ENSG00000173917.9|ENSG00000173917.9|ENSG00000173917.9|ENSG00000173917.9|ENSG00000173917.9|ENSG00000173917.9|ENSG00000173917.9|ENSG00000173917.9|ENSG00000230148.4|ENSG00000173917.9|ENSG00000230148.4|ENSG00000120093.7|ENSG00000173917.9|ENSG00000230148.4|ENSG00000173917.9|ENSG00000230148.4|ENSG00000173917.9|ENSG00000230148.4|ENSG00000173917.9|ENSG00000173917.9|ENSG00000120094.6|ENSG00000173917.9|ENSG00000173917.9|ENSG00000230148.4|ENSG00000120093.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Spleen|Stomach|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1614 0.0732 0.1084 0.1899 0.0886 0.2214 0.1960 0.1770 0.1231 0.1546 0.0738 0.1277 0.1656 0.0959 0.2201 0.1918 0.1902 het 1939.90 146 17 46607958 . T A 1939.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.180;DP=146;Dels=0.00;FS=10.130;HRun=1;HaplotypeScore=0.8321;MQ=58.23;MQ0=0;MQRankSum=0.827;QD=13.29;ReadPosRankSum=0.012;VQSLOD=4.7652;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,77:146:99:1970,0,1825 17 46608030 46608030 G A exonic HOXB1 synonymous SNV HOXB1:NM_002144:exon1:c.C237T:p.S79S 0.13 0.12 0.12 0.097 0.2 0.13 0.1772 0.1268 0.1208 0.0821 0.2267 0.2142 0.1787 0.1279 0.18 0.13 0.21 0.14 0.12 rs12946855 COSM3755622 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1757 0.1224 0.1217 0.2011 0.0889 0.2232 0.2134 0.1918 0.1284 0.1757 0.1210 0.1352 0.1689 0.0939 0.2230 0.2062 0.1994 het 1464.50 94 17 46608030 . G A 1464.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.057;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;MQRankSum=-2.339;QD=15.58;ReadPosRankSum=-0.962;VQSLOD=4.2735;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,52:94:99:1494,0,1084 17 46608184 46608184 - GGGCGCTGT exonic HOXB1 nonframeshift insertion HOXB1:NM_002144:exon1:c.82_83insACAGCGCCC:p.A27_P28insHSA 0.13 0.12 0.12 0.098 0.2 0.13 0.1747 0.1226 0.1204 0.0799 0.2247 0.2102 0.1785 0.1145 0.18 0.12 0.2 . . rs534792734 COSM308668 2(lung);5(large_intestine);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1740 0.1204 0.1348 0.1689 0.0957 0.2229 0.2032 0.1957 het 2733.38 110 17 46608184 . G GGGGCGCTGT 2733.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.984;DP=110;FS=2.979;HRun=0;HaplotypeScore=721.9783;MQ=55.10;MQ0=0;MQRankSum=-2.408;QD=24.85;ReadPosRankSum=-0.322;set=variant2 GT:AD:DP:GQ:PL 0/1:80,24:110:99:2772,0,3657 17 46670520 46670520 T C exonic HOXB5 synonymous SNV HOXB5:NM_002147:exon1:c.A525G:p.Q175Q 0.94 0.78 0.96 1. 1. 1. 0.9820 0.8127 0.9889 1 0.9998 0.9986 0.9889 0.9996 0.94 0.82 1. 0.9 0.98 rs7406798 COSM4130343 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9850 0.8097 0.9875 0.9954 1 1 0.9988 0.9896 0.9993 0.9476 0.8177 0.9905 0.9967 1 0.9997 0.9991 0.9908 hom 3146.58 113 17 46670520 . T C 3146.58 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=58.85;MQ0=0;QD=27.85;VQSLOD=8.4100;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3180,238,0 17 46688135 46688135 G A exonic HOXB7 nonsynonymous SNV HOXB7:NM_004502:exon1:c.C146T:p.A49V 0.086 0.047 0.022 0.23 0.05 0.068 0.0661 0.0508 0.0215 0.2679 0.0848 0.0444 0.0877 0.0726 0.032 0.04 0.028 0.033 . rs79247310 COSM4000184 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.043 0.413 D 0.063 0.219 B 0.026 0.195 B 0.005 0.332 N 0.481 0.319 P 2.05 0.567 M 1.37 0.342 T -1.18 0.301 N 0.16 0.192 -1.055 0.130 T 0.000 0.000 T . . . 4.207 0.564 23.9 0.998 0.891 0.727 0.353 D c -0.172 -0.137 1.000 0.747 0.437 0.062 0 4.26 0.497 1.018 0.294 1.036 0.656 0.001 0.137 0.999 0.750 14.628 0.681 . . . 0.0588 0.0428 0.0217 0.0466 0.2506 0.0860 0.0367 0.0575 0.0625 0.0545 0.0372 0.0251 0.0364 0.2630 0.0806 0.0374 0.0615 het 429.85 28 17 46688135 . G A 429.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.901;DP=28;Dels=0.00;FS=4.494;HRun=2;HaplotypeScore=1.9301;MQ=59.33;MQ0=0;MQRankSum=-0.348;QD=15.35;ReadPosRankSum=-0.070;VQSLOD=5.3241;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,16:28:99:460,0,341 17 46688256 46688256 T C exonic HOXB7 nonsynonymous SNV HOXB7:NM_004502:exon1:c.A25G:p.T9A 0.83 0.81 0.82 0.86 0.91 0.78 0.8795 0.8211 0.8085 0.8535 0.9583 0.9086 0.9132 0.7992 0.89 0.83 0.92 0.81 0.85 rs7406910 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.182 P -1.765 0.003 N 1.84 0.247 T 1.65 0.006 N 0.025 0.007 -0.970 0.372 T 0.000 0.000 T . . . 0.641 0.155 8.434 0.885 0.175 0.749 0.363 D c -0.920 -0.596 1.000 0.747 0.437 0.062 0 4.26 0.497 3.852 0.554 0.062 0.168 1.000 0.715 1.000 0.888 12.054 0.526 . . . 0.8819 0.8193 0.8232 0.8519 0.8545 0.9560 0.9113 0.8849 0.7991 0.8842 0.8144 0.8313 0.8510 0.8533 0.9493 0.9152 0.9063 hom 3315.36 113 17 46688256 . T C 3315.36 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.318;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.80;MQ0=0;MQRankSum=0.494;QD=29.34;ReadPosRankSum=-0.406;VQSLOD=8.3033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,111:113:99:3315,253,0 17 46805443 46805443 A G exonic HOXB13 synonymous SNV HOXB13:NM_006361:exon1:c.T513C:p.S171S 0.12 0.098 0.21 0.18 0.11 0.042 0.1114 0.1057 0.1863 0.1873 0.0844 0.1035 0.1272 0.0652 0.1 0.11 0.096 0.17 0.09 rs9900627 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1162 0.1085 0.1815 0.1891 0.1849 0.0888 0.0992 0.1349 0.0653 0.1030 0.1113 0.1790 0.1667 0.1807 0.0836 0.0895 0.0937 het 1275.13 94 17 46805443 . A G 1275.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.271;DP=94;Dels=0.00;FS=5.738;HRun=1;HaplotypeScore=1.6671;MQ=59.51;MQ0=0;MQRankSum=-0.349;QD=13.57;ReadPosRankSum=0.577;VQSLOD=5.4281;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,43:94:99:1305,0,1506 17 46847364 46847364 C A exonic TTLL6 nonsynonymous SNV TTLL6:NM_173623:exon7:c.G1215T:p.E405D,TTLL6:NM_001130918:exon14:c.G2136T:p.E712D 0.24 0.26 0.39 0.17 0.24 0.16 0.2531 0.2610 0.4019 0.1654 0.2324 0.2512 0.2742 0.2045 0.25 0.26 0.25 0.22 0.33 rs2032844 COSM3755628;COSM3755626;COSM3755627 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.954 0.764 P 0.437 0.807 B 0.000 0.003 N 1 0.090 P 1.75 0.456 L 1.93 0.229 T . . . 0.074 0.064 -1.019 0.241 T 0.000 0.000 T . . . 3.274 0.452 22.8 0.996 0.759 0.014 0.047 N c -0.510 -0.781 0.000 0.046 0.554 0.283 0 -3.84 0.040 -1.626 0.021 -0.392 0.064 0.000 0.063 0.161 0.208 5.684 0.169 . ENSG00000159199.9|ENSG00000159210.5|ENSG00000230532.1|ENSG00000159199.9|ENSG00000159199.9|ENSG00000170703.11|ENSG00000159202.13|ENSG00000159202.13|ENSG00000159210.5|ENSG00000159199.9 Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2605 0.2592 0.4037 0.3029 0.1662 0.2232 0.2514 0.2720 0.2020 0.2504 0.2587 0.3846 0.2947 0.1510 0.2192 0.2541 0.2679 het 948.94 83 17 46847364 . C A 948.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.113;DP=83;Dels=0.00;FS=0.834;HRun=1;HaplotypeScore=2.7041;MQ=59.48;MQ0=0;MQRankSum=0.336;QD=11.43;ReadPosRankSum=1.441;VQSLOD=6.4250;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:979,0,1173 17 46939658 46939658 C G exonic CALCOCO2 nonsynonymous SNV CALCOCO2:NM_001261393:exon11:c.C1039G:p.P347A,CALCOCO2:NM_001261395:exon11:c.C949G:p.P317A,CALCOCO2:NM_005831:exon12:c.C1165G:p.P389A,CALCOCO2:NM_001261390:exon13:c.C1237G:p.P413A,CALCOCO2:NM_001261391:exon13:c.C1228G:p.P410A . . . . . . 0.2993 0.3321 0.4330 0.1699 0.2737 0.3029 0.3150 0.2474 0.31 0.33 0.3 0.25 0.38 rs10278 COSM4130346 1(skin);1(thyroid) . . . . . . . . . . . 0.192 0.393 T 0.012 0.151 B 0.004 0.112 B 0.190 0.169 N 1 0.090 P 1.79 0.469 L 2.6 0.144 T -1.18 0.358 N 0.042 0.052 -0.993 0.319 T 0.000 0.000 T . . . 0.608 0.152 8.209 0.894 0.182 0.101 0.155 N c -0.817 -0.868 0.000 0.050 0.706 0.609 0 -0.674 0.107 0.023 0.133 0.726 0.305 0.000 0.063 0.210 0.219 4.560 0.115 . ENSG00000170703.11|ENSG00000159199.9|ENSG00000170703.11|ENSG00000159210.5|ENSG00000159210.5|ENSG00000230532.1|ENSG00000159199.9|ENSG00000159199.9|ENSG00000159202.13|ENSG00000159199.9|ENSG00000170703.11|ENSG00000159202.13|ENSG00000159210.5|ENSG00000170703.11|ENSG00000159202.13|ENSG00000159199.9|ENSG00000159210.5|ENSG00000159210.5|ENSG00000159199.9|ENSG00000159202.13 Adipose_Subcutaneous|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.3068 0.3353 0.4426 0.3941 0.1681 0.2706 0.2997 0.3231 0.2443 0.3080 0.3331 0.4318 0.3907 0.1566 0.2716 0.3086 0.3262 het 947.17 101 17 46939658 . C G 947.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.196;DP=101;Dels=0.00;FS=2.661;HRun=0;HaplotypeScore=2.6210;MQ=59.17;MQ0=0;MQRankSum=-1.956;QD=9.38;ReadPosRankSum=-1.170;VQSLOD=4.4729;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,43:101:99:977,0,1657 17 47000251 47000251 C T exonic UBE2Z synonymous SNV UBE2Z:NM_023079:exon6:c.C846T:p.Y282Y 0.63 0.56 0.52 0.75 0.6 0.74 0.5959 0.5498 0.5210 0.7471 0.5973 0.5700 0.5848 0.7023 0.56 0.54 0.58 0.61 . rs1058018 COSM5437806;COSM5437807 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5902 0.5443 0.5061 0.5331 0.7461 0.6045 0.5707 0.5687 0.7000 0.5727 0.5508 0.5119 0.5369 0.7584 0.5990 0.5640 0.5612 het 443.82 44 17 47000251 . C T 443.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.325;DP=44;Dels=0.00;FS=1.154;HRun=0;HaplotypeScore=0.8941;MQ=58.85;MQ0=0;MQRankSum=-0.800;QD=10.09;ReadPosRankSum=0.656;VQSLOD=6.1347;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,18:44:99:474,0,647 17 47007963 47007963 C T exonic SNF8 synonymous SNV SNF8:NM_001317193:exon7:c.G600A:p.L200L,SNF8:NM_001317192:exon8:c.G648A:p.L216L,SNF8:NM_007241:exon8:c.G651A:p.L217L,SNF8:NM_001317194:exon10:c.G339A:p.L113L 0.23 0.2 0.41 0.17 0.27 0.19 0.2750 0.2264 0.4165 0.1697 0.2549 0.2824 0.2906 0.2379 0.26 0.23 0.28 0.21 0.41 rs2270576 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2834 0.2235 0.4249 0.3636 0.1669 0.2507 0.2800 0.2948 0.2326 0.2654 0.2210 0.4129 0.3543 0.1509 0.2479 0.2951 0.3037 het 533.95 60 17 47007963 . C T 533.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.738;DP=60;Dels=0.02;FS=1.044;HRun=2;HaplotypeScore=4.8108;MQ=59.62;MQ0=0;MQRankSum=-0.102;QD=8.75;ReadPosRankSum=-1.372;VQSLOD=4.9064;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,22:60:99:564,0,1039 17 47039132 47039132 T C exonic GIP nonsynonymous SNV GIP:NM_004123:exon4:c.A307G:p.S103G 0.42 0.065 0.45 0.68 0.55 0.49 0.4953 0.1360 0.4498 0.7083 0.5186 0.5280 0.5045 0.4916 0.4 0.14 0.54 0.38 0.39 rs2291725 COSM148293 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) . . . . . . . . . . . 0.772 0.034 T 0.0 0.026 B 0.0 0.013 B 0.476 0.050 N 1 0.090 P -0.115 0.046 N 1.88 0.239 T -0.14 0.092 N 0.008 0.000 -0.974 0.364 T 0.000 0.000 T . . . -2.306 0.005 0.001 0.345 0.021 0.019 0.059 N c -1.741 -1.756 1.0 0.983 0.443 0.080 1 -5.07 0.027 0.050 0.139 -1.400 0.012 0.010 0.182 0.000 0.016 4.524 0.113 . ENSG00000159210.5|ENSG00000159202.13|ENSG00000159210.5|ENSG00000230532.1|ENSG00000270781.1|ENSG00000159199.9|ENSG00000270781.1|ENSG00000159199.9|ENSG00000159202.13|ENSG00000159199.9|ENSG00000170703.11|ENSG00000159202.13|ENSG00000159202.13|ENSG00000170703.11|ENSG00000270781.1|ENSG00000159202.13 Adrenal_Gland|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.4959 0.1242 0.4349 0.5259 0.7062 0.5198 0.5261 0.4982 0.4918 0.4125 0.1398 0.4451 0.5066 0.7042 0.5169 0.5080 0.4765 het 531.57 44 17 47039132 . T C 531.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.124;DP=44;Dels=0.00;FS=4.388;HRun=1;HaplotypeScore=6.4660;MQ=57.43;MQ0=0;MQRankSum=0.763;QD=12.08;ReadPosRankSum=0.998;VQSLOD=4.1733;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:562,0,590 17 47210429 47210429 A G exonic B4GALNT2 synonymous SNV B4GALNT2:NM_153446:exon1:c.A42G:p.E14E 0.74 0.76 0.78 0.52 0.8 0.85 0.7859 0.7824 0.7298 0.5204 0.7801 0.8138 0.8023 0.8565 0.81 0.78 0.82 0.66 0.86 rs7207842 COSM3755633 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7903 0.7755 0.7332 0.9154 0.5080 0.7762 0.8063 0.8131 0.8504 0.7784 0.7673 0.7685 0.9238 0.4969 0.7711 0.8119 0.8210 hom 1306.77 44 17 47210429 . A G 1306.77 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=29.70;VQSLOD=8.2590;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1340,102,0 17 47210506 47210506 C A exonic B4GALNT2 nonsynonymous SNV B4GALNT2:NM_153446:exon1:c.C119A:p.A40D 0.43 0.52 0.49 0.13 0.53 0.47 0.5588 0.5839 0.5229 0.1856 0.6028 0.6025 0.5467 0.5192 0.56 0.54 0.57 0.38 0.3 rs7207403 COSM3755634 1(thyroid);2(large_intestine) . . . . . . . . . . . 0.552 0.065 T 0.0 0.026 B 0.0 0.013 B 0.042 0.019 N 1 0.090 P 0 0.065 N 2.05 0.207 T 0.06 0.063 N 0.05 0.031 -0.919 0.457 T 0.000 0.000 T . . . 0.060 0.099 3.190 0.877 0.169 0.039 0.091 N c -1.469 -1.521 0.940 0.274 0.447 0.083 0 -1.38 0.085 -0.047 0.118 -0.092 0.117 0.004 0.165 0.004 0.083 0.870 0.011 . ENSG00000159202.13 Skin_Sun_Exposed_Lower_leg 0.5181 0.5369 0.4611 0.6247 0.125 0.5444 0.5535 0.5475 0.4892 0.5239 0.5251 0.4487 0.6291 0.1335 0.5318 0.5644 0.5467 het 87.27 13 17 47210506 . C A 87.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.256;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.91;MQ0=0;MQRankSum=0.271;QD=6.71;ReadPosRankSum=-0.437;VQSLOD=5.1277;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,5:13:99:117,0,228 17 47241604 47241604 T C exonic B4GALNT2 synonymous SNV B4GALNT2:NM_001159387:exon8:c.T921C:p.N307N,B4GALNT2:NM_001159388:exon8:c.T843C:p.N281N,B4GALNT2:NM_153446:exon8:c.T1101C:p.N367N 1. 0.99 1. 1. 1. 1. 0.9986 0.9838 0.9998 1 1 0.9999 1 1 0.99 0.98 1. 1. 1. rs8074457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9829 0.9992 1 1 1 0.9999 0.9993 1 0.9948 0.9816 0.9988 1 1 1 1 1 hom 6046.41 193 17 47241604 . T C 6046.41 Mask AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.3876;MQ=58.15;MQ0=0;QD=31.33;VQSLOD=2.9907;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,192:193:99:6017,463,0 17 47783663 47783663 C T exonic SLC35B1 nonsynonymous SNV SLC35B1:NM_001278784:exon3:c.G41A:p.R14H,SLC35B1:NM_005827:exon3:c.G353A:p.R118H 0.052 0.1 0.036 . 0.086 0.015 0.0628 0.0881 0.0312 0.0001 0.0656 0.0836 0.0601 0.0166 0.085 0.086 0.085 0.054 0.049 rs1135034 . . . . . . . . . . . . . 0.132 0.361 T 0.003 0.156 B 0.013 0.154 B 0.000 0.559 D 0.000 0.537 P 0.805 0.203 L -0.49 0.704 T -1.28 0.372 N 0.055 0.388 -0.990 0.327 T 0.007 0.024 T . . . 4.078 0.547 23.7 0.994 0.619 0.906 0.517 D c 0.212 0.327 1.000 0.747 0.732 0.924 0 4.77 0.603 4.569 0.603 0.852 0.362 1.000 0.715 1.000 0.888 17.599 0.879 . . . 0.0603 0.0888 0.0332 0.0761 0.0001 0.0649 0.0824 0.0637 0.0159 0.0664 0.0840 0.0219 0.0766 0 0.0463 0.0699 0.0612 het 459.88 37 17 47783663 . C T 459.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.654;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=57.46;MQ0=0;MQRankSum=1.440;QD=12.43;ReadPosRankSum=0.870;VQSLOD=6.0130;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,18:37:99:490,0,464 17 47888852 47888852 A G exonic KAT7 synonymous SNV KAT7:NM_001199158:exon4:c.A261G:p.R87R,KAT7:NM_001199156:exon5:c.A351G:p.R117R,KAT7:NM_001199157:exon5:c.A438G:p.R146R,KAT7:NM_001199155:exon6:c.A678G:p.R226R,KAT7:NM_001346706:exon6:c.A528G:p.R176R,KAT7:NM_007067:exon7:c.A768G:p.R256R 1. 0.99 1. 1. 1. 1. 0.9988 0.9866 0.9998 1 1 1.0000 0.9989 1 1. 0.99 1. 1. 1. rs4462645 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9849 0.9997 1 1 1 1.0000 0.9988 1 0.9959 0.9856 0.9988 1 1 1 1 1 hom 2271.99 73 17 47888852 . A G 2271.99 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=31.12;VQSLOD=9.1506;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2305,175,0 17 48226811 48226811 C T exonic PPP1R9B unknown UNKNOWN 0.17 0.029 0.22 0.33 0.14 0.18 0.2190 0.0579 0.2696 0.4186 0.1983 0.2058 0.1891 0.2044 0.13 0.043 0.17 0.033 . rs74676292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1829 0.0404 0.2298 0.0889 0.3581 0.1558 0.1734 0.1723 0.1797 0.1435 0.0430 0.2165 0.0967 0.3513 0.1607 0.1697 0.1814 het 304.85 15 17 48226811 . C T 304.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.511;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.429;QD=20.32;ReadPosRankSum=-0.919;VQSLOD=12.1695;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,10:15:99:335,0,124 17 48265495 48265495 T C exonic COL1A1 nonsynonymous SNV COL1A1:NM_000088:exon44:c.A3223G:p.T1075A 0.98 0.94 0.99 1. 0.98 1. 0.9848 0.9457 0.9894 1 0.9763 0.9859 0.9789 0.9958 0.97 0.95 0.98 0.9 0.61 rs1800215 COSM4130378 1(thyroid) Benign\x2cBenign not_specified\x2cnot_specified RCV000439178.1\x2cRCV000341625.1 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9851 0.9413 0.9919 0.9913 1 0.9754 0.9837 0.9853 0.9956 0.9727 0.9433 0.9869 0.9967 1 0.9794 0.9834 0.9836 hom 405.45 13 17 48265495 . T C 405.45 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.19;VQSLOD=13.8390;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:39.11:438,39,0 17 48268223 48268223 A G exonic COL1A1 synonymous SNV COL1A1:NM_000088:exon33:c.T2298C:p.T766T 1. 1. 1. 1. 1. 1. 0.9998 0.9993 0.9999 0.9995 1 0.9999 0.9989 0.9999 1. 1. 1. 1. 1. rs2734272 COSM4130379 1(thyroid) Benign|Likely benign|Likely benign|Likely benign not_specified|Infantile_cortical_hyperostosis|Osteogenesis_Imperfecta\x2c_Dominant|Ehlers-Danlos_syndrome\x2c_type_7A RCV000247058.2|RCV000265335.1|RCV000328440.1|RCV000383040.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen CN169374|C0020497:114000:ORPHA1310:24752008|CN239427|CN071434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9993 0.9999 1 0.9998 1 1.0000 0.9998 0.9998 0.9996 0.9991 0.9988 1 1 1 0.9998 1 hom 1798.49 70 17 48268223 . A G 1798.49 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=7.7122;MQ=58.82;MQ0=0;QD=25.33;VQSLOD=3.2832;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:1831,147,0 17 48356260 48356260 G C exonic TMEM92 nonsynonymous SNV TMEM92:NM_153229:exon4:c.G269C:p.S90T,TMEM92:NM_001168215:exon5:c.G269C:p.S90T 0.54 0.49 0.57 0.6 0.55 0.54 0.5438 0.4737 0.5459 0.6100 0.5807 0.54 0.5485 0.5519 0.6 0.61 0.59 0.51 0.47 rs6504642 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.244 0.036 N 1 0.090 P -0.14 0.045 N 3.47 0.052 T 0.04 0.065 N 0.009 0.001 -0.987 0.333 T 0.000 0.000 T . . . -1.784 0.011 0.002 0.392 0.027 0.001 0.005 N c -1.511 -1.495 1.000 0.407 0.706 0.609 0 -0.12 0.128 -1.031 0.037 -2.001 0.005 0.000 0.063 0.000 0.016 6.270 0.200 . ENSG00000167105.3|ENSG00000251179.1 Whole_Blood|Whole_Blood 0.5460 0.4702 0.5464 0.5553 0.6072 0.5771 0.5384 0.5451 0.5515 0.5310 0.4785 0.5406 0.5861 0.6111 0.5728 0.5402 0.5493 hom 3340.04 103 17 48356260 . G C 3340.04 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7313;MQ=58.76;MQ0=0;QD=32.43;VQSLOD=8.9206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:103:99:3304,262,0 17 48431032 48431032 G A exonic XYLT2 synonymous SNV XYLT2:NM_022167:exon2:c.G177A:p.E59E 0.13 0.041 0.28 0.078 0.21 0.12 0.2529 0.1122 0.4315 0.1679 0.4662 0.3268 0.2148 0.1358 0.17 0.072 0.22 0.15 0.098 rs739990 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2017 0.0738 0.2749 0.1211 0.0701 0.2929 0.2336 0.1860 0.1192 0.1887 0.0768 0.2410 0.1026 0.0723 0.2933 0.2383 0.2271 het 245.24 14 17 48431032 . G A 245.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.312;DP=14;Dels=0.00;FS=5.756;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.694;QD=17.52;ReadPosRankSum=-1.003;VQSLOD=4.8393;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,10:14:99:275,0,119 17 48431197 48431197 C T exonic XYLT2 synonymous SNV XYLT2:NM_022167:exon2:c.C342T:p.P114P 0.13 0.042 0.28 0.079 0.21 0.12 0.3036 0.15 0.4383 0.1659 0.4522 0.3522 0.2638 0.1572 0.16 0.062 0.2 0.15 0.025 rs739989 COSM3755654 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2060 0.0746 0.2799 0.1219 0.0714 0.2960 0.2398 0.1922 0.1194 0.1885 0.0765 0.2410 0.1026 0.0711 0.2943 0.2381 0.2265 het 275.19 21 17 48431197 . C T 275.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.458;DP=21;Dels=0.00;FS=2.318;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=1.232;QD=13.10;ReadPosRankSum=0.528;VQSLOD=5.4825;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,10:21:99:305,0,342 17 48432324 48432324 G C exonic XYLT2 nonsynonymous SNV XYLT2:NM_022167:exon4:c.G914C:p.R305T 0.13 0.041 0.28 0.078 0.21 0.12 0.2081 0.0753 0.2789 0.0786 0.3024 0.2367 0.1931 0.1312 0.17 0.074 0.22 0.15 0.26 rs12451299 COSM4000192 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.607 0.055 T 0.001 0.067 B 0.006 0.112 B 0.000 0.469 D 0.972 0.256 P -1.12 0.009 N 2.78 0.113 T 0.14 0.061 N 0.179 0.218 -0.902 0.478 T 0.000 0.000 T . . . 0.834 0.173 9.671 0.273 0.013 0.801 0.396 D c -0.566 -0.302 0.141 0.173 0.707 0.730 0 3.57 0.399 1.888 0.391 0.992 0.602 1.000 0.715 0.990 0.544 3.235 0.063 . ENSG00000006282.15|ENSG00000015532.5|ENSG00000015532.5|ENSG00000049283.13|ENSG00000015532.5|ENSG00000136444.5|ENSG00000015532.5|ENSG00000015532.5|ENSG00000108829.9|ENSG00000049283.13 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.2067 0.0731 0.2803 0.1162 0.0719 0.2970 0.2360 0.1930 0.1212 0.1876 0.0766 0.2368 0.0993 0.0709 0.2939 0.2366 0.2249 het 1846.82 137 17 48432324 . G C 1846.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.976;DP=137;Dels=0.00;FS=0.661;HRun=0;HaplotypeScore=0.0000;MQ=59.86;MQ0=0;MQRankSum=-0.917;QD=13.48;ReadPosRankSum=0.041;VQSLOD=5.9994;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,71:137:99:1877,0,1755 17 48433958 48433958 T C exonic XYLT2 synonymous SNV XYLT2:NM_022167:exon8:c.T1569C:p.Y523Y 0.38 0.49 0.57 0.11 0.45 0.31 0.4363 0.4943 0.6108 0.1121 0.4050 0.4736 0.4029 0.3108 0.48 0.5 0.48 0.46 0.47 rs4794136 COSM3755655 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4408 0.5025 0.6112 0.4589 0.1043 0.4048 0.4745 0.4517 0.3090 0.4428 0.5081 0.5598 0.4437 0.1038 0.3997 0.4459 0.4303 het 2061.34 142 17 48433958 . T C 2061.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.973;DP=142;Dels=0.00;FS=2.175;HRun=0;HaplotypeScore=9.2463;MQ=58.99;MQ0=0;MQRankSum=1.007;QD=14.52;ReadPosRankSum=-1.388;VQSLOD=4.1894;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,77:142:99:2091,0,1807 17 48437456 48437456 C G exonic XYLT2 nonsynonymous SNV XYLT2:NM_022167:exon11:c.C2402G:p.T801R 0.25 0.2 0.28 0.096 0.4 0.31 0.3324 0.2328 0.2036 0.0839 0.4068 0.3930 0.3565 0.3400 0.34 0.24 0.4 0.26 0.28 rs6504649 COSM1384191 1(large_intestine) other Pseudoxanthoma_elasticum\x2c_modifier_of_severity_of RCV000002642.3 MedGen C1842481 . . . . . . 0.05 0.395 D 0.025 0.179 B 0.036 0.216 B 0.018 0.277 N 1 0.224 P 0.345 0.112 N 3.69 0.041 T -1.55 0.375 N 0.184 0.225 -0.908 0.471 T 0.000 0.000 T . . . 0.351 0.128 6.177 0.902 0.189 0.460 0.274 N c -0.815 -0.820 0.969 0.291 0.707 0.730 0 1.87 0.244 3.213 0.506 0.848 0.348 0.038 0.207 0.033 0.150 5.830 0.177 . ENSG00000015532.5|ENSG00000136444.5|ENSG00000015532.5|ENSG00000108829.9 Artery_Tibial|Nerve_Tibial|Nerve_Tibial|Testis 0.3312 0.2283 0.2147 0.4536 0.0799 0.4031 0.3885 0.3675 0.3455 0.3295 0.2212 0.2613 0.4633 0.0838 0.3997 0.4014 0.3704 het 643.93 64 17 48437456 . C G 643.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.647;DP=64;Dels=0.00;FS=9.185;HRun=0;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;MQRankSum=-0.759;QD=10.06;ReadPosRankSum=1.688;VQSLOD=3.6131;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,26:64:99:674,0,1037 17 48452776 48452776 A C exonic EME1 nonsynonymous SNV EME1:NM_001166131:exon2:c.A207C:p.E69D,EME1:NM_152463:exon2:c.A207C:p.E69D 0.75 0.99 0.89 0.24 0.88 0.69 0.8180 0.9774 0.8577 0.2296 0.8402 0.8863 0.8051 0.7131 0.92 0.97 0.89 0.8 0.9 rs3760413 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.883 0.072 N 1 0.090 P -1.04 0.011 N 2.87 0.192 T 0.35 0.046 N 0.007 0.140 -0.955 0.402 T 0.000 0.000 T . . . -3.075 0.001 0.001 0.429 0.032 0.001 0.006 N c -1.999 -1.994 1.000 0.517 0.706 0.609 0 -6.36 0.018 -1.481 0.024 -1.819 0.006 0.000 0.063 0.000 0.016 1.093 0.015 . . . 0.8175 0.9802 0.8693 0.9315 0.2162 0.8412 0.8836 0.8554 0.7166 0.8630 0.9767 0.8819 0.9106 0.2217 0.8308 0.8721 0.8480 hom 3791.96 120 17 48452776 . A C 3791.96 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.559;DP=120;Dels=0.00;FS=4.357;HRun=0;HaplotypeScore=0.9734;MQ=58.94;MQ0=0;MQRankSum=1.617;QD=31.60;ReadPosRankSum=0.635;VQSLOD=4.5353;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,119:120:99:3760,263,0 17 48452978 48452978 - AGC exonic EME1 nonframeshift insertion EME1:NM_001166131:exon2:c.409_410insAGC:p.K137_P138insQ,EME1:NM_152463:exon2:c.409_410insAGC:p.K137_P138insQ 0.45 0.73 0.58 0.11 0.45 0.31 0.4524 0.6846 0.6173 0.1122 0.4028 0.4722 0.4119 0.3110 0.54 0.68 0.47 . . rs67225428 COSM4603088 15(upper_aerodigestive_tract);1(large_intestine);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4529 0.6915 0.6187 0.4568 0.1044 0.4027 0.4731 0.4588 0.3092 0.4936 0.6910 0.5789 0.44 0.1033 0.3989 0.4433 0.4429 het 4054.88 146 17 48452978 . A AAGC 4054.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.915;DP=146;FS=2.178;HRun=0;HaplotypeScore=466.2046;MQ=56.50;MQ0=0;MQRankSum=-2.022;QD=27.77;ReadPosRankSum=-1.424;set=variant2 GT:AD:DP:GQ:PL 0/1:80,63:146:99:4055,0,2863 17 48455985 48455985 A T exonic EME1 synonymous SNV EME1:NM_001166131:exon4:c.A933T:p.T311T,EME1:NM_152463:exon4:c.A933T:p.T311T 0.14 0.042 0.29 0.079 0.25 0.13 0.2241 0.0826 0.2876 0.0800 0.3158 0.2683 0.2059 0.1294 0.2 0.081 0.26 0.15 0.28 rs2189712 COSM148296 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 1 0.090 P . . . 2.15 0.193 T -0.91 0.245 N . . -0.953 0.405 T 0.000 0.000 T . . . -1.619 0.014 0.002 0.707 0.091 0.066 0.125 N c -0.741 -0.896 0.810 0.243 0.672 0.522 0 -1.3 0.087 -0.470 0.067 -0.274 0.086 0.000 0.063 0.005 0.090 0.220 0.002 . ENSG00000015532.5|ENSG00000015532.5|ENSG00000049283.13|ENSG00000136444.5|ENSG00000015532.5|ENSG00000108829.9|ENSG00000049283.13|ENSG00000015532.5 Artery_Aorta|Artery_Tibial|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid 0.2281 0.0795 0.2903 0.1494 0.0734 0.3094 0.2724 0.2150 0.1286 0.2095 0.0843 0.2482 0.1457 0.0717 0.3029 0.2725 0.2439 het 2168.52 184 17 48455985 . A T 2168.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.542;DP=184;Dels=0.00;FS=1.819;HRun=0;HaplotypeScore=4.0671;MQ=59.77;MQ0=0;MQRankSum=0.757;QD=11.79;ReadPosRankSum=-0.559;VQSLOD=5.5757;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,83:184:99:2199,0,2660 17 48456193 48456193 T C exonic EME1 nonsynonymous SNV EME1:NM_001166131:exon5:c.T1049C:p.I350T,EME1:NM_152463:exon5:c.T1049C:p.I350T 0.14 0.042 0.29 0.08 0.24 0.13 0.2240 0.0826 0.2876 0.0801 0.3156 0.2682 0.2064 0.1295 0.2 0.081 0.26 0.15 0.3 rs12450550 COSM148297 1(haematopoietic_and_lymphoid_tissue);1(stomach);9(soft_tissue);1(pancreas);4(prostate) . . . . . . . . . . . 0.093 0.373 T 0.804 0.432 P 0.292 0.399 B 0.793 0.067 N 1 0.090 P 2.28 0.651 M 1.89 0.237 T -2.25 0.503 N 0.078 0.566 -1.022 0.231 T 0.000 0.000 T . . . 0.434 0.136 6.904 0.918 0.206 0.285 0.233 N c -0.518 -0.627 0.904 0.261 0.745 0.986 0 2.1 0.261 2.038 0.406 -0.234 0.093 0.276 0.249 0.607 0.290 8.978 0.349 ERCC4 domain ENSG00000015532.5|ENSG00000015532.5|ENSG00000049283.13|ENSG00000136444.5|ENSG00000015532.5|ENSG00000108829.9|ENSG00000049283.13|ENSG00000015532.5 Artery_Aorta|Artery_Tibial|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid 0.2280 0.0795 0.2900 0.1483 0.0733 0.3093 0.2723 0.2148 0.1287 0.2096 0.0845 0.2482 0.14 0.0695 0.3023 0.2729 0.2449 het 1271.26 110 17 48456193 . T C 1271.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.293;DP=110;Dels=0.00;FS=1.579;HRun=1;HaplotypeScore=0.6651;MQ=58.05;MQ0=0;MQRankSum=0.580;QD=11.56;ReadPosRankSum=-0.817;VQSLOD=5.4116;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,51:110:99:1301,0,1526 17 48539035 48539035 T C exonic ACSF2 synonymous SNV ACSF2:NM_001288971:exon2:c.T15C:p.Y5Y,ACSF2:NM_001288970:exon3:c.T366C:p.Y122Y,ACSF2:NM_001288969:exon4:c.T456C:p.Y152Y,ACSF2:NM_001288972:exon4:c.T15C:p.Y5Y,ACSF2:NM_025149:exon4:c.T495C:p.Y165Y,ACSF2:NM_001288968:exon5:c.T570C:p.Y190Y 0.34 0.7 0.28 0.086 0.25 0.26 0.2802 0.6276 0.3451 0.0976 0.2167 0.2446 0.2952 0.2800 0.38 0.62 0.25 0.48 0.25 rs9674937 COSM3755656 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.005 0.632 D . . . . . . . . . 0.000 0.588 P . . . 0.5 0.556 T -1.02 0.268 N . . -0.914 0.464 T 0.000 0.000 T . . . -0.134 0.081 1.488 0.852 0.152 0.806 0.399 D c -0.036 -0.040 0.018 0.131 0.706 0.609 0 -0.363 0.119 1.060 0.299 0.138 0.222 1.000 0.715 0.972 0.466 10.191 0.420 . ENSG00000136444.5|ENSG00000136449.9|ENSG00000136449.9|ENSG00000167107.8|ENSG00000167107.8|ENSG00000167107.8|ENSG00000167107.8|ENSG00000136449.9|ENSG00000049283.13|ENSG00000136449.9 Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.2783 0.6385 0.3377 0.3849 0.0972 0.2218 0.2403 0.2762 0.2807 0.3306 0.6198 0.3353 0.3609 0.1106 0.2238 0.2159 0.2398 het 2220.74 179 17 48539035 . T C 2220.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.124;DP=179;Dels=0.00;FS=3.454;HRun=0;HaplotypeScore=7.8097;MQ=58.53;MQ0=0;MQRankSum=0.365;QD=12.41;ReadPosRankSum=0.544;VQSLOD=4.7940;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,92:179:99:2251,0,2270 17 48557326 48557326 G A exonic RSAD1 nonsynonymous SNV RSAD1:NM_018346:exon3:c.G355A:p.A119T 0.58 0.91 0.58 0.22 0.63 0.48 0.5920 0.8726 0.5957 0.2129 0.5299 0.6131 0.6195 0.5491 0.71 0.87 0.63 0.58 0.52 rs2290862 COSM4000193 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.446 0.091 T 0.0 0.026 B 0.003 0.080 B 0.472 0.049 N 1 0.090 P 0.05 0.082 N 1.96 0.223 T 0.74 0.020 N 0.024 0.007 -1.028 0.209 T 0.000 0.000 T . . . 0.670 0.158 8.627 0.836 0.143 0.069 0.128 N c -1.518 -1.424 1.000 0.405 0.767 0.994 0 0.020 0.134 0.304 0.188 -1.350 0.013 0.005 0.169 0.309 0.239 6.933 0.235 Elongator protein 3/MiaB/NifB|Radical SAM|Radical SAM\x2c alpha/beta horseshoe ENSG00000136444.5|ENSG00000006282.15|ENSG00000136444.5|ENSG00000015532.5|ENSG00000136457.5|ENSG00000136457.5|ENSG00000136457.5|ENSG00000136457.5|ENSG00000136444.5|ENSG00000006282.15|ENSG00000136444.5|ENSG00000006282.15|ENSG00000006282.15|ENSG00000167107.8|ENSG00000108829.9|ENSG00000049283.13|ENSG00000006282.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.5878 0.8805 0.5971 0.7606 0.2046 0.5335 0.6074 0.6288 0.5525 0.6417 0.8656 0.5967 0.7583 0.2200 0.5258 0.5885 0.5743 het 1050.36 89 17 48557326 . G A 1050.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.857;DP=89;Dels=0.00;FS=9.193;HRun=0;HaplotypeScore=7.2887;MQ=59.09;MQ0=0;MQRankSum=0.960;QD=11.80;ReadPosRankSum=0.392;VQSLOD=4.0457;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:43,46:89:99:1080,0,1111 17 48557348 48557348 T C exonic RSAD1 nonsynonymous SNV RSAD1:NM_018346:exon3:c.T377C:p.L126S 0.58 0.91 0.58 0.22 0.63 0.48 0.5926 0.8722 0.5978 0.2132 0.5294 0.6136 0.6195 0.5498 0.71 0.87 0.63 0.61 0.58 rs2290861 COSM4000194 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.455 0.088 T 0.0 0.026 B 0.002 0.063 B 0.002 0.370 N 1 0.090 P 1.545 0.392 L -1.45 0.809 T -0.61 0.181 N 0.026 0.008 -0.980 0.350 T 0.000 0.000 T . . . 2.350 0.344 18.49 0.974 0.331 0.041 0.094 N c -0.585 -0.455 1.000 0.747 0.767 0.994 0 4.64 0.572 4.458 0.596 -0.013 0.131 0.555 0.272 0.983 0.502 12.736 0.564 Elongator protein 3/MiaB/NifB|Radical SAM|Radical SAM\x2c alpha/beta horseshoe ENSG00000136444.5|ENSG00000006282.15|ENSG00000136444.5|ENSG00000015532.5|ENSG00000136457.5|ENSG00000136457.5|ENSG00000136457.5|ENSG00000136457.5|ENSG00000136444.5|ENSG00000006282.15|ENSG00000136444.5|ENSG00000006282.15|ENSG00000006282.15|ENSG00000167107.8|ENSG00000108829.9|ENSG00000049283.13|ENSG00000006282.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.5885 0.8799 0.5986 0.7658 0.2047 0.5336 0.6078 0.6298 0.5531 0.6419 0.8651 0.5979 0.7583 0.2203 0.5258 0.5889 0.5755 het 1100.51 112 17 48557348 . T C 1100.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.533;DP=112;Dels=0.00;FS=0.704;HRun=0;HaplotypeScore=2.9639;MQ=58.73;MQ0=0;MQRankSum=0.586;QD=9.83;ReadPosRankSum=2.455;VQSLOD=5.4033;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,48:112:99:1131,0,1781 17 48559559 48559559 A G exonic RSAD1 synonymous SNV RSAD1:NM_018346:exon4:c.A582G:p.V194V 0.29 0.49 0.27 0.08 0.26 0.25 0.2641 0.4476 0.3386 0.0891 0.2169 0.2433 0.2914 0.2989 0.32 0.44 0.25 0.36 0.25 rs7210579 COSM1384222 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2631 0.4447 0.3285 0.4086 0.0884 0.2232 0.2392 0.2642 0.2772 0.2769 0.4339 0.3218 0.3742 0.1010 0.2246 0.2146 0.2388 het 1319.57 95 17 48559559 . A G 1319.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.167;DP=95;Dels=0.00;FS=0.873;HRun=1;HaplotypeScore=1.9990;MQ=59.27;MQ0=0;MQRankSum=0.859;QD=13.89;ReadPosRankSum=0.512;VQSLOD=6.4464;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,44:95:99:1350,0,1468 17 48616271 48616271 C T exonic EPN3 synonymous SNV EPN3:NM_017957:exon4:c.C708T:p.D236D 0.013 0.0008 0.014 . 0.044 0.0092 0.0348 0.0079 0.0135 0.0001 0.0747 0.0486 0.0316 0.0137 0.034 0.01 0.046 0.011 0.049 rs72835715 COSM5619045 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0325 0.0068 0.0142 0.0108 0.0002 0.0668 0.0478 0.0326 0.0106 0.0416 0.0080 0.0239 0.0099 0 0.0684 0.0601 0.0551 het 411.80 37 17 48616271 . C T 411.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.291;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9828;MQ=59.38;MQ0=0;MQRankSum=-1.869;QD=11.13;ReadPosRankSum=-0.988;VQSLOD=4.7398;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,18:37:99:442,0,536 17 48703752 48703752 T C exonic CACNA1G synonymous SNV CACNA1G:NM_198387:exon34:c.T6393C:p.P2131P,CACNA1G:NM_198388:exon34:c.T6372C:p.P2124P,CACNA1G:NM_001256328:exon35:c.T6420C:p.P2140P,CACNA1G:NM_001256330:exon35:c.T6360C:p.P2120P,CACNA1G:NM_001256331:exon35:c.T6339C:p.P2113P,CACNA1G:NM_001256332:exon35:c.T6324C:p.P2108P,CACNA1G:NM_001256360:exon35:c.T6387C:p.P2129P,CACNA1G:NM_001256361:exon35:c.T6381C:p.P2127P,CACNA1G:NM_198376:exon35:c.T6156C:p.P2052P,CACNA1G:NM_198378:exon35:c.T6462C:p.P2154P,CACNA1G:NM_198379:exon35:c.T6537C:p.P2179P,CACNA1G:NM_198382:exon35:c.T6426C:p.P2142P,CACNA1G:NM_198386:exon35:c.T6441C:p.P2147P,CACNA1G:NM_001256324:exon36:c.T6585C:p.P2195P,CACNA1G:NM_001256325:exon36:c.T6516C:p.P2172P,CACNA1G:NM_001256326:exon36:c.T6504C:p.P2168P,CACNA1G:NM_001256327:exon36:c.T6474C:p.P2158P,CACNA1G:NM_001256329:exon36:c.T6393C:p.P2131P,CACNA1G:NM_001256334:exon36:c.T6225C:p.P2075P,CACNA1G:NM_001256359:exon36:c.T6414C:p.P2138P,CACNA1G:NM_198380:exon36:c.T6606C:p.P2202P,CACNA1G:NM_198383:exon36:c.T6561C:p.P2187P,CACNA1G:NM_198384:exon36:c.T6495C:p.P2165P,CACNA1G:NM_198396:exon36:c.T6672C:p.P2224P,CACNA1G:NM_001256333:exon37:c.T6258C:p.P2086P,CACNA1G:NM_198377:exon37:c.T6741C:p.P2247P,CACNA1G:NM_198385:exon37:c.T6639C:p.P2213P,CACNA1G:NM_018896:exon38:c.T6774C:p.P2258P 0.37 0.54 0.27 0.18 0.44 0.32 0.4165 0.5383 0.2120 0.1804 0.4998 0.4644 0.4022 0.3822 0.46 0.51 0.43 0.47 . rs739925 COSM4130403;COSM4130401;COSM4130402 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3917 0.5222 0.2085 0.4277 0.1668 0.4879 0.4469 0.4096 0.3744 0.4457 0.5186 0.2759 0.3709 0.1663 0.4891 0.4352 0.4344 het 490.33 30 17 48703752 . T C 490.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.894;DP=30;Dels=0.00;FS=6.251;HRun=2;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;MQRankSum=2.453;QD=16.34;ReadPosRankSum=0.430;VQSLOD=4.1106;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,19:30:99:520,0,295 17 48703986 48703986 G A exonic CACNA1G synonymous SNV CACNA1G:NM_198387:exon34:c.G6627A:p.P2209P,CACNA1G:NM_198388:exon34:c.G6606A:p.P2202P,CACNA1G:NM_001256328:exon35:c.G6654A:p.P2218P,CACNA1G:NM_001256330:exon35:c.G6594A:p.P2198P,CACNA1G:NM_001256331:exon35:c.G6573A:p.P2191P,CACNA1G:NM_001256332:exon35:c.G6558A:p.P2186P,CACNA1G:NM_001256360:exon35:c.G6621A:p.P2207P,CACNA1G:NM_001256361:exon35:c.G6615A:p.P2205P,CACNA1G:NM_198376:exon35:c.G6390A:p.P2130P,CACNA1G:NM_198378:exon35:c.G6696A:p.P2232P,CACNA1G:NM_198379:exon35:c.G6771A:p.P2257P,CACNA1G:NM_198382:exon35:c.G6660A:p.P2220P,CACNA1G:NM_198386:exon35:c.G6675A:p.P2225P,CACNA1G:NM_001256324:exon36:c.G6819A:p.P2273P,CACNA1G:NM_001256325:exon36:c.G6750A:p.P2250P,CACNA1G:NM_001256326:exon36:c.G6738A:p.P2246P,CACNA1G:NM_001256327:exon36:c.G6708A:p.P2236P,CACNA1G:NM_001256329:exon36:c.G6627A:p.P2209P,CACNA1G:NM_001256334:exon36:c.G6459A:p.P2153P,CACNA1G:NM_001256359:exon36:c.G6648A:p.P2216P,CACNA1G:NM_198380:exon36:c.G6840A:p.P2280P,CACNA1G:NM_198383:exon36:c.G6795A:p.P2265P,CACNA1G:NM_198384:exon36:c.G6729A:p.P2243P,CACNA1G:NM_198396:exon36:c.G6906A:p.P2302P,CACNA1G:NM_001256333:exon37:c.G6492A:p.P2164P,CACNA1G:NM_198377:exon37:c.G6975A:p.P2325P,CACNA1G:NM_198385:exon37:c.G6873A:p.P2291P,CACNA1G:NM_018896:exon38:c.G7008A:p.P2336P 0.19 0.39 0.14 0.081 0.056 0.23 0.1181 0.3541 0.1936 0.0669 0.0527 0.0611 0.0890 0.2050 0.14 0.32 0.051 0.17 . rs9893223 COSM436909;COSM436908;COSM436907 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1129 0.3580 0.1820 0.1102 0.0626 0.0508 0.0560 0.0880 0.2005 0.1375 0.3436 0.1563 0.1159 0.0710 0.0528 0.0489 0.0716 het 729.31 56 17 48703986 . G A 729.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.175;DP=56;Dels=0.00;FS=3.054;HRun=0;HaplotypeScore=0.8667;MQ=59.67;MQ0=0;MQRankSum=1.681;QD=13.02;ReadPosRankSum=0.906;VQSLOD=5.9323;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,25:56:99:759,0,808 17 51900729 51900729 C T exonic KIF2B nonsynonymous SNV KIF2B:NM_032559:exon1:c.C335T:p.A112V 0.21 0.025 0.27 0.2 0.38 0.25 0.3290 0.0755 0.1927 0.1857 0.4477 0.4105 0.3418 0.2814 0.3 0.086 0.41 0.18 0.32 rs3803824 COSM5425326 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.285 0.152 T 0.006 0.126 B 0.01 0.139 B 0.085 0.207 N 1 0.090 P 1.13 0.290 L -0.91 0.750 T -0.23 0.107 N 0.058 0.041 -0.996 0.309 T 0.000 0.000 T . . . -0.034 0.090 2.275 0.965 0.295 0.072 0.131 N c -0.810 -0.790 0.000 0.061 0.534 0.214 0 4.02 0.458 0.591 0.235 0.935 0.490 0.003 0.159 0.001 0.043 7.584 0.270 . . . 0.3332 0.0693 0.2091 0.4354 0.1864 0.4523 0.4085 0.3485 0.2879 0.3017 0.0771 0.2220 0.5 0.1931 0.4535 0.4045 0.3834 het 2471.23 159 17 51900729 . C T 2471.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.605;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8238;MQ=59.71;MQ0=0;MQRankSum=-1.067;QD=15.54;ReadPosRankSum=0.039;VQSLOD=5.9207;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,90:159:99:2501,0,1718 17 51901084 51901084 A G exonic KIF2B synonymous SNV KIF2B:NM_032559:exon1:c.A690G:p.L230L 0.76 0.79 0.77 0.81 0.84 0.59 0.8062 0.8035 0.7409 0.8066 0.8766 0.8535 0.8458 0.6323 0.84 0.8 0.85 0.83 0.91 rs3803825 COSM4130416 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8041 0.7986 0.7321 0.8352 0.8045 0.8792 0.8536 0.8200 0.6387 0.8336 0.7939 0.7278 0.8510 0.8257 0.8829 0.8503 0.8513 hom 3473.51 103 17 51901084 . A G 3473.51 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=33.72;VQSLOD=9.5922;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3473,271,0 17 51901385 51901385 C T exonic KIF2B synonymous SNV KIF2B:NM_032559:exon1:c.C991T:p.L331L 0.33 0.11 0.41 0.59 0.37 0.3 0.3572 0.1453 0.4820 0.6043 0.3351 0.3530 0.3896 0.2980 0.29 0.15 0.36 0.32 0.46 rs3803826 COSM3755675 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3631 0.1432 0.4548 0.3289 0.6014 0.3335 0.3558 0.3683 0.2970 0.3025 0.1395 0.4200 0.3079 0.6149 0.3308 0.3471 0.3569 het 1948.13 186 17 51901385 . C T 1948.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.064;DP=186;Dels=0.00;FS=1.843;HRun=1;HaplotypeScore=3.6448;MQ=59.27;MQ0=0;MQRankSum=0.882;QD=10.47;ReadPosRankSum=-1.644;VQSLOD=5.8069;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:108,78:186:99:1978,0,2899 17 51901643 51901643 C T exonic KIF2B nonsynonymous SNV KIF2B:NM_032559:exon1:c.C1249T:p.P417S 0.76 0.79 0.76 0.81 0.83 0.59 0.7988 0.8026 0.7341 0.8062 0.8677 0.8431 0.8337 0.6291 0.83 0.8 0.84 0.83 0.89 rs4561518 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.432 N 0.996 0.230 P -1.755 0.003 N -0.77 0.735 T 3.7 0.001 N 0.058 0.041 -0.940 0.426 T 0.000 0.000 T . . . -0.612 0.049 0.117 0.102 0.001 0.225 0.216 N c -1.059 -0.787 0.017 0.129 0.526 0.212 0 5.73 0.897 3.462 0.526 -0.211 0.100 0.996 0.391 0.081 0.181 11.396 0.489 Kinesin motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.7963 0.7974 0.7256 0.8216 0.8044 0.8720 0.8424 0.8107 0.6357 0.8257 0.7933 0.7220 0.8444 0.8257 0.8766 0.8367 0.8466 hom 3770.57 126 17 51901643 . C T 3770.57 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.85;MQ0=0;QD=29.93;VQSLOD=8.4782;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3770,298,0 17 51901703 51901703 C G exonic KIF2B nonsynonymous SNV KIF2B:NM_032559:exon1:c.C1309G:p.R437G 0.76 0.79 0.77 0.81 0.84 0.59 0.8060 0.8037 0.7409 0.8066 0.8767 0.8530 0.8458 0.6319 0.84 0.8 0.85 0.83 0.91 rs4561519 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.009 0.307 N 1.000 0.182 P -1.155 0.009 N -0.9 0.749 T 5.26 0.000 N 0.036 0.016 -0.959 0.394 T 0.000 0.000 T . . . 0.004 0.094 2.622 0.216 0.008 0.201 0.207 N c -0.834 -0.610 0.363 0.198 0.526 0.212 0 5.73 0.897 8.161 0.895 0.136 0.221 1.000 0.715 0.013 0.120 9.862 0.401 Kinesin motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.8039 0.7989 0.7320 0.8350 0.8045 0.8792 0.8532 0.8191 0.6382 0.8330 0.7943 0.7255 0.8510 0.8267 0.8827 0.8492 0.8503 hom 3350.79 100 17 51901703 . C G 3350.79 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.77;MQ0=0;QD=33.51;VQSLOD=9.2877;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3350,262,0 17 51902252 51902252 C T exonic KIF2B synonymous SNV KIF2B:NM_032559:exon1:c.C1858T:p.L620L 0.76 0.79 0.76 0.81 0.83 0.59 0.7991 0.8025 0.7339 0.8065 0.8677 0.8435 0.8337 0.6295 0.83 0.8 0.84 0.83 0.56 rs3826355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7966 0.7972 0.7257 0.8217 0.8044 0.8720 0.8429 0.8108 0.6360 0.8257 0.7927 0.7231 0.8444 0.8244 0.8769 0.8371 0.8452 hom 6038.27 196 17 51902252 . C T 6038.27 Mask AC=2;AF=1.00;AN=2;DP=196;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8490;MQ=59.48;MQ0=0;QD=30.81;VQSLOD=8.8374;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,196:196:99:6038,469,0 17 53076799 53076799 G A exonic STXBP4 nonsynonymous SNV STXBP4:NM_178509:exon5:c.G274A:p.G92R 0.85 0.94 0.85 0.9 0.74 0.81 0.7803 0.9174 0.8733 0.8976 0.7204 0.7252 0.7633 0.8145 0.78 0.91 0.72 0.94 0.73 rs1156287 COSM5905067;COSM5905068 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1 0.090 P -1.33 0.007 N 1.66 0.275 T 4.7 0.000 N 0.06 0.112 -0.968 0.376 T 0.000 0.000 T . . . 0.175 0.111 4.415 0.149 0.003 0.021 0.061 N c -0.971 -0.733 0.001 0.082 0.615 0.372 0 3.56 0.397 1.983 0.400 0.244 0.267 0.947 0.327 0.752 0.322 6.388 0.206 PDZ domain ENSG00000166263.9|ENSG00000166263.9|ENSG00000166263.9|ENSG00000166263.9|ENSG00000261589.1|ENSG00000166263.9|ENSG00000261589.1|ENSG00000166263.9|ENSG00000261589.1|ENSG00000166263.9|ENSG00000261589.1|ENSG00000166260.6|ENSG00000166263.9|ENSG00000141198.9|ENSG00000166263.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.7776 0.9202 0.8592 0.7663 0.8955 0.7257 0.7190 0.7510 0.8095 0.7888 0.9119 0.8409 0.7616 0.8907 0.7245 0.7209 0.7546 hom 3949.89 115 17 53076799 . G A 3949.89 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2664;MQ=58.87;MQ0=0;QD=34.35;VQSLOD=6.5530;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3950,307,0 17 53158492 53158492 G A exonic STXBP4 synonymous SNV STXBP4:NM_178509:exon16:c.G1437A:p.A479A 0.19 0.061 0.15 0.24 0.25 0.28 0.2275 0.0744 0.1060 0.2458 0.2377 0.2527 0.2557 0.2953 0.18 0.076 0.23 0.25 0.2 rs8069999 COSM3755681 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2163 0.0699 0.0938 0.2968 0.2250 0.2372 0.2340 0.2463 0.2776 0.1867 0.0723 0.1223 0.2483 0.2378 0.2356 0.2354 0.2393 het 817.67 59 17 53158492 . G A 817.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.435;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.57;MQ0=0;MQRankSum=-0.038;QD=13.86;ReadPosRankSum=1.977;VQSLOD=6.5872;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,33:59:99:848,0,695 17 53851228 53851228 C T exonic PCTP synonymous SNV PCTP:NM_001102402:exon4:c.C267T:p.I89I,PCTP:NM_001330377:exon4:c.C483T:p.I161I,PCTP:NM_001330378:exon4:c.C483T:p.I161I,PCTP:NM_021213:exon4:c.C483T:p.I161I 0.78 0.37 0.85 0.94 0.96 0.92 0.9098 0.4817 0.8229 0.9380 0.9742 0.9736 0.9484 0.9308 0.81 0.49 0.97 0.64 0.89 rs2960062 COSM4130420 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9119 0.4606 0.8258 0.9506 0.9397 0.9692 0.9742 0.9347 0.9312 0.8260 0.4680 0.8293 0.9603 0.9481 0.9748 0.9752 0.9316 hom 1645.53 49 17 53851228 . C T 1645.53 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=33.58;VQSLOD=10.1445;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1679,132,0 17 54450038 54450038 C A exonic ANKFN1 synonymous SNV ANKFN1:NM_153228:exon6:c.C642A:p.L214L 0.62 0.2 0.76 0.96 0.7 0.64 0.6653 0.2565 0.8025 0.9689 0.6726 0.6690 0.7126 0.6467 0.54 0.27 0.67 0.58 0.67 rs957724 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6820 0.2504 0.7967 0.6756 0.9702 0.6787 0.6720 0.6850 0.6499 0.5705 0.2576 0.7440 0.6755 0.9790 0.6759 0.6656 0.6649 hom 4462.55 139 17 54450038 . C A 4462.55 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.8160;MQ=59.67;MQ0=0;QD=32.10;VQSLOD=8.6064;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4462,361,0 17 54450134 54450134 G A exonic ANKFN1 synonymous SNV ANKFN1:NM_153228:exon6:c.G738A:p.K246K 0.67 0.32 0.78 0.96 0.76 0.68 0.7162 0.3534 0.8401 0.9691 0.7230 0.7223 0.7533 0.6960 0.61 0.37 0.73 0.65 0.69 rs8069322 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7310 0.3475 0.8307 0.7059 0.9704 0.7341 0.7270 0.7307 0.6987 0.6371 0.3516 0.7691 0.7053 0.9802 0.7274 0.7311 0.7190 hom 7656.62 245 17 54450134 . G A 7656.62 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.9317;MQ=59.21;MQ0=0;QD=31.25;VQSLOD=6.9694;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:7656,608,0 17 54534634 54534634 G A exonic ANKFN1 nonsynonymous SNV ANKFN1:NM_153228:exon12:c.G1333A:p.V445I 0.75 0.6 0.81 0.97 0.77 0.67 0.7430 0.6468 0.8567 0.9734 0.7412 0.7210 0.7667 0.6873 0.7 0.64 0.72 0.8 0.7 rs10852985 . . . . . . . . . . . . . 0.023 0.481 D 0.659 0.390 P 0.076 0.269 B 0.007 0.319 N 0.988 0.244 P 2.015 0.552 M 1.48 0.317 T -0.29 0.117 N 0.202 0.248 -1.039 0.175 T 0.000 0.000 T . . . 4.819 0.647 24.8 0.988 0.460 0.953 0.638 D c 0.137 0.205 0.000 0.058 0.554 0.246 0 4.06 0.464 4.228 0.582 0.154 0.240 1.000 0.715 0.980 0.490 13.099 0.585 . ENSG00000153930.6|ENSG00000153930.6|ENSG00000153930.6 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.7486 0.6405 0.8445 0.7005 0.9744 0.7509 0.7248 0.7408 0.6766 0.7148 0.6231 0.7902 0.7086 0.9840 0.7477 0.7263 0.7306 hom 2462.24 82 17 54534634 . G A 2462.24 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=58.95;MQ0=0;QD=30.03;VQSLOD=8.5613;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2495,193,0 17 54921494 54921494 A C exonic DGKE synonymous SNV DGKE:NM_003647:exon3:c.A579C:p.T193T 0.7 0.57 0.8 0.92 0.71 0.56 0.7223 0.6183 0.8314 0.9235 0.6804 0.7269 0.7173 0.6022 0.7 0.62 0.74 0.74 0.66 rs3760158 . . Benign not_specified RCV000241799.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7251 0.6020 0.8238 0.7389 0.9189 0.6837 0.7285 0.7307 0.5965 0.7036 0.6214 0.8270 0.7583 0.9273 0.6770 0.7267 0.6827 het 843.75 78 17 54921494 . A C 843.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.606;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8628;MQ=60.00;MQ0=0;MQRankSum=-2.539;QD=10.82;ReadPosRankSum=0.621;VQSLOD=4.6624;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,34:78:99:874,0,1086 17 54978794 54978794 G A exonic TRIM25 nonsynonymous SNV TRIM25:NM_005082:exon4:c.C1073T:p.P358L 0.77 0.84 0.71 0.81 0.75 0.72 0.7485 0.8205 0.7208 0.8267 0.7440 0.7365 0.7588 0.7307 0.76 0.81 0.74 0.81 0.81 rs205498 COSM4000224 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.126 0.272 T 0.05 0.209 B 0.019 0.176 B 0.147 0.029 N 0.006 0.420 P 1.1 0.281 L -0.21 0.663 T -1.01 0.266 N 0.042 0.041 -0.956 0.400 T 0.000 0.000 T . . . 0.737 0.164 9.067 0.706 0.091 0.276 0.231 N c -1.173 -1.086 0.982 0.302 0.737 0.974 0 0.603 0.166 -0.017 0.124 -0.911 0.026 0.400 0.259 0.001 0.043 3.949 0.088 . ENSG00000121064.8 Whole_Blood 0.7501 0.8227 0.7307 0.8541 0.8308 0.7454 0.7315 0.7552 0.7264 0.7639 0.8196 0.7428 0.8477 0.8548 0.7441 0.7276 0.7372 het 2713.53 237 17 54978794 . G A 2713.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.357;DP=237;Dels=0.00;FS=2.423;HRun=0;HaplotypeScore=3.7727;MQ=59.10;MQ0=0;MQRankSum=1.533;QD=11.45;ReadPosRankSum=0.297;VQSLOD=6.0115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,108:237:99:2744,0,3547 17 55027850 55027850 T C exonic COIL synonymous SNV COIL:NM_004645:exon2:c.A753G:p.E251E 0.92 0.99 0.84 1. 0.83 0.91 0.8579 0.9659 0.8349 0.9994 0.8281 0.8217 0.8348 0.8912 0.87 0.96 0.82 0.9 0.75 rs8071691 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8529 0.9708 0.8367 0.7570 0.9994 0.8303 0.8236 0.8330 0.8866 0.8763 0.9676 0.8138 0.7715 1 0.8378 0.8270 0.8371 hom 4835.51 157 17 55027850 . T C 4835.51 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=51.71;MQ0=0;QD=30.80;VQSLOD=5.4054;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,156:157:99:4835,379,0 17 56247101 56247101 C A exonic OR4D2 nonsynonymous SNV OR4D2:NM_001004707:exon1:c.C85A:p.L29I 0.24 0.38 0.16 0.17 0.21 0.19 0.2269 0.3575 0.1366 0.1681 0.2742 0.2293 0.2258 0.2102 0.27 0.36 0.23 0.18 0.22 rs60994383 COSM4000226 4(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.161 0.236 T 0.001 0.067 B 0.005 0.104 B 0.373 0.135 N 1 0.090 P 0.475 0.132 N 8.36 0.003 T 0.12 0.056 N 0.056 0.039 -0.994 0.315 T 0.000 0.000 T . . . -1.174 0.026 0.007 0.588 0.059 0.118 0.167 N c -1.460 -1.459 0.000 0.062 0.497 0.185 0 -5.02 0.027 -2.535 0.010 -3.151 0.001 0.000 0.063 0.032 0.149 2.287 0.038 . . . 0.2235 0.3623 0.1428 0.2601 0.1665 0.2796 0.2265 0.2256 0.2111 0.2659 0.3488 0.1539 0.2815 0.1537 0.2796 0.2338 0.2490 hom 6000.79 174 17 56247101 . C A 6000.79 Mask AC=2;AF=1.00;AN=2;DP=174;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8878;MQ=59.62;MQ0=0;QD=34.49;VQSLOD=4.5246;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,174:174:99:6000,499,0 17 56270442 56270442 A G exonic EPX nonsynonymous SNV EPX:NM_000502:exon2:c.A120G:p.I40M 0.12 0.12 0.14 0.099 0.15 0.098 0.1384 0.1417 0.1400 0.1138 0.2677 0.1411 0.1388 0.0852 0.14 0.14 0.14 0.033 0.11 rs11079339 COSM4415033 2(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.356 0.120 T 0.006 0.126 B 0.002 0.063 B 0.151 0.180 N 1.000 0.206 P 1.22 0.307 L -0.63 0.720 T -0.85 0.232 N 0.031 0.012 -1.119 0.024 T 0.001 0.002 T . . . -0.368 0.064 0.461 0.862 0.158 0.017 0.054 N c -1.137 -1.163 0.011 0.122 0.497 0.185 0 -6.08 0.020 -0.547 0.061 1.187 0.908 0.000 0.063 0.998 0.697 4.146 0.096 . . . 0.1431 0.1423 0.1412 0.0753 0.1139 0.2792 0.1430 0.1382 0.0862 0.1673 0.1449 0.1360 0.0762 0.1196 0.2653 0.1662 0.1667 het 2413.28 196 17 56270442 . A G 2413.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.901;DP=196;Dels=0.00;FS=7.694;HRun=1;HaplotypeScore=4.8478;MQ=58.55;MQ0=0;MQRankSum=0.114;QD=12.31;ReadPosRankSum=-1.964;VQSLOD=4.2258;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,87:196:99:2443,0,3036 17 56271094 56271094 G C exonic EPX nonsynonymous SNV EPX:NM_000502:exon4:c.G366C:p.Q122H 0.21 0.21 0.19 0.092 0.31 0.27 0.2876 0.2455 0.1792 0.1070 0.4241 0.3226 0.3037 0.2909 0.29 0.24 0.32 0.15 0.24 rs11652709 COSM4986138 5(soft_tissue);2(large_intestine) . . . . . . . . . . . 0.121 0.277 T 1.0 0.899 D 0.999 0.916 D 0.000 0.629 D 0.321 0.332 P 3.11 0.880 M -0.55 0.711 T -2.35 0.519 N 0.107 0.114 -0.963 0.386 T 0.000 0.000 T . . . 3.027 0.424 22.3 0.994 0.608 0.748 0.363 D c 0.274 0.160 0.001 0.079 0.497 0.185 0 3.62 0.405 3.152 0.501 1.038 0.658 0.999 0.424 0.620 0.292 7.658 0.274 . . . 0.2874 0.2494 0.1865 0.2764 0.1047 0.4338 0.3228 0.2713 0.2926 0.3056 0.2470 0.2005 0.2467 0.1063 0.4074 0.3439 0.3172 het 692.14 55 17 56271094 . G C 692.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.784;DP=55;Dels=0.00;FS=2.307;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.177;QD=12.58;ReadPosRankSum=0.531;VQSLOD=5.7940;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,26:55:99:722,0,810 17 56272390 56272390 A G exonic EPX synonymous SNV EPX:NM_000502:exon6:c.A660G:p.R220R 0.5 0.85 0.3 0.24 0.44 0.51 0.4639 0.7936 0.2701 0.2401 0.5350 0.4537 0.4801 0.5209 0.56 0.78 0.44 0.62 0.47 rs2240815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4501 0.8038 0.2813 0.4385 0.2443 0.5360 0.4489 0.4386 0.5217 0.5444 0.7905 0.3198 0.4195 0.2575 0.5155 0.4584 0.4755 het 847.03 93 17 56272390 . A G 847.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.640;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1392;MQ=58.52;MQ0=0;MQRankSum=0.733;QD=9.11;ReadPosRankSum=1.346;VQSLOD=5.7635;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,37:93:99:877,0,1539 17 56326521 56326521 G C exonic LPO synonymous SNV LPO:NM_001160102:exon3:c.G177C:p.T59T,LPO:NM_006151:exon5:c.G426C:p.T142T 0.044 0.049 0.048 . 0.08 0.046 0.0654 0.0541 0.0380 0.0002 0.0438 0.0861 0.0728 0.0510 0.077 0.06 0.086 0.054 0.057 rs8178329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0640 0.0538 0.0398 0.1022 0.0002 0.0469 0.0860 0.0667 0.0513 0.0651 0.0579 0.0465 0.1159 0 0.0473 0.0803 0.0676 het 1322.51 94 17 56326521 . G C 1322.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.153;DP=94;DS;Dels=0.00;FS=3.119;HRun=1;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.976;QD=14.07;ReadPosRankSum=0.643;VQSLOD=6.1002;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,49:94:99:1353,0,1421 17 56332327 56332327 G A exonic LPO nonsynonymous SNV LPO:NM_001160102:exon7:c.G1012A:p.V338M,LPO:NM_006151:exon9:c.G1261A:p.V421M 0.16 0.25 0.082 0.12 0.15 0.16 0.1371 0.2212 0.0666 0.1020 0.1547 0.1353 0.1530 0.1511 0.17 0.22 0.14 0.17 0.098 rs2301870 COSM148305 1(stomach);1(large_intestine) . . . . . . . . . . . 0.208 0.198 T 0.042 0.385 B 0.012 0.362 B 0.304 0.040 N 1 0.090 P -0.85 0.015 N -0.29 0.677 T -0.7 0.199 N 0.025 0.016 -1.098 0.044 T 0.000 0.000 T . . . 0.887 0.179 9.989 0.848 0.150 0.049 0.105 N c -1.444 -1.454 0.999 0.384 0.598 0.340 0 -6.83 0.015 -0.701 0.051 -0.682 0.039 0.000 0.063 0.851 0.355 16.741 0.853 . . . 0.1337 0.2250 0.0728 0.1457 0.1050 0.1503 0.1356 0.1292 0.1487 0.1616 0.2315 0.0839 0.17 0.1002 0.1523 0.1352 0.1426 het 1008.25 119 17 56332327 . G A 1008.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.207;DP=119;DS;Dels=0.00;FS=5.401;HRun=0;HaplotypeScore=1.9988;MQ=60.00;MQ0=0;MQRankSum=0.078;QD=8.47;ReadPosRankSum=-0.442;VQSLOD=5.0744;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,43:119:99:1038,0,2138 17 56386118 56386118 A G exonic TSPOAP1 synonymous SNV TSPOAP1:NM_024418:exon21:c.T4335C:p.D1445D,TSPOAP1:NM_001261835:exon22:c.T4515C:p.D1505D,TSPOAP1:NM_004758:exon22:c.T4515C:p.D1505D 0.28 0.31 0.27 0.25 0.33 0.24 0.2865 0.3153 0.2186 0.2305 0.3307 0.3087 0.2784 0.2444 0.3 0.3 0.3 0.38 0.3 rs2680689 COSM436987;COSM436986 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2834 0.3067 0.2236 0.3214 0.2336 0.3193 0.3045 0.3014 0.2494 0.3021 0.3031 0.2291 0.3245 0.2252 0.3332 0.3073 0.2848 het 693.89 53 17 56386118 . A G 693.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.791;DP=53;Dels=0.00;FS=1.051;HRun=0;HaplotypeScore=0.9665;MQ=58.85;MQ0=0;MQRankSum=0.080;QD=13.09;ReadPosRankSum=-0.347;VQSLOD=6.2547;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,28:53:99:724,0,668 17 56386383 56386383 - T exonic TSPOAP1 frameshift insertion TSPOAP1:NM_024418:exon21:c.4069dupA:p.S1357Kfs*39,TSPOAP1:NM_001261835:exon22:c.4249dupA:p.S1417Kfs*39,TSPOAP1:NM_004758:exon22:c.4249dupA:p.S1417Kfs*39 . . . . . . 0.0002 0 0 0.0004 0 0.0002 0 0.0002 . . . . . rs373235874 COSM1384705;COSM1384706 2(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.395e-05 0 0 0.0002 0 6.739e-05 5.89e-05 0 4.903e-05 . . . . . . . . het 730.56 137 17 56386383 . C CT 730.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.014;DP=137;FS=171.598;HRun=2;HaplotypeScore=494.7743;MQ=59.80;MQ0=0;MQRankSum=4.418;QD=5.33;ReadPosRankSum=-4.329;set=variant2 GT:AD:DP:GQ:PL 0/1:85,48:137:99:770,0,1671 17 56386732 56386732 C T exonic TSPOAP1 nonsynonymous SNV TSPOAP1:NM_024418:exon21:c.G3721A:p.D1241N,TSPOAP1:NM_001261835:exon22:c.G3901A:p.D1301N,TSPOAP1:NM_004758:exon22:c.G3901A:p.D1301N 0.016 0.0008 0.013 . 0.033 0.036 0.0232 0.0048 0.0113 0.0002 0.0243 0.0275 0.0178 0.0391 0.019 0.0057 0.026 0.011 0.033 rs61741210 COSM3755711;COSM3755712 1(large_intestine) Benign not_specified RCV000454891.1 MedGen CN169374 . . . . . . 0.018 0.518 D 0.943 0.511 P 0.341 0.407 B 0.001 0.390 N 0.981 0.250 N 2.48 0.723 M -2.26 0.874 D -1.48 0.362 N 0.028 0.009 -0.494 0.689 T 0.227 0.593 T . . . 3.577 0.487 23.2 0.998 0.878 0.874 0.466 D c 0.053 0.182 1.000 0.747 0.615 0.372 0 5.59 0.846 1.462 0.347 0.925 0.434 0.648 0.279 0.923 0.397 16.328 0.828 . . . 0.0227 0.0038 0.0116 0.0519 0.0001 0.0245 0.0253 0.0281 0.0366 0.0174 0.0047 0.0203 0.0563 0 0.0198 0.0251 0.0174 het 1310.90 121 17 56386732 . C T 1310.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.298;DP=121;Dels=0.00;FS=3.857;HRun=1;HaplotypeScore=2.7838;MQ=59.69;MQ0=0;MQRankSum=0.745;QD=10.83;ReadPosRankSum=-0.466;VQSLOD=5.3053;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,50:121:99:1341,0,1733 17 56388238 56388238 C G exonic TSPOAP1 nonsynonymous SNV TSPOAP1:NM_024418:exon18:c.G3238C:p.A1080P,TSPOAP1:NM_001261835:exon19:c.G3418C:p.A1140P,TSPOAP1:NM_004758:exon19:c.G3418C:p.A1140P 0.26 0.24 0.26 0.24 0.33 0.24 0.2867 0.2615 0.2131 0.2224 0.3450 0.3103 0.2807 0.2647 0.27 0.23 0.29 0.34 0.3 rs2680704 COSM436990;COSM436991 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.062 0.021 N 1 0.090 P -1.59 0.004 N 3.63 0.044 T 0.26 0.044 N 0.036 0.026 -0.908 0.472 T 0.000 0.000 T . . . -0.516 0.055 0.201 0.156 0.004 0.001 0.009 N c -1.371 -1.321 0.055 0.150 0.615 0.372 0 -1.05 0.095 -0.990 0.038 -0.551 0.047 0.000 0.063 0.010 0.111 6.008 0.187 Fibronectin type III ENSG00000005379.11 Brain_Cerebellum 0.2763 0.2452 0.2171 0.3191 0.2177 0.3177 0.3002 0.2950 0.2504 0.2850 0.2475 0.2163 0.3146 0.2145 0.3345 0.3065 0.2811 het 403.05 29 17 56388238 . C G 403.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.240;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.196;QD=13.90;ReadPosRankSum=0.153;VQSLOD=12.0355;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,14:29:99:433,0,370 17 56405046 56405046 C T exonic TSPOAP1 nonsynonymous SNV TSPOAP1:NM_001261835:exon1:c.G236A:p.G79E,TSPOAP1:NM_004758:exon1:c.G236A:p.G79E,TSPOAP1:NM_024418:exon1:c.G236A:p.G79E 0.016 0.0015 0.013 . 0.034 0.035 0.0218 0.0056 0.0112 0.0002 0.0243 0.0263 0.0167 0.0317 0.02 0.0075 0.026 0.011 0.033 rs61743284 COSM3755720;COSM3755719 1(large_intestine) Benign not_specified RCV000455550.1 MedGen CN169374 . . . . . . 0.066 0.373 T 0.005 0.393 B 0.006 0.408 B 0.172 0.173 N 1 0.090 N 0.975 0.246 L 3.53 0.049 T -0.75 0.210 N 0.04 0.028 -1.000 0.299 T 0.004 0.012 T . . . -0.453 0.058 0.287 0.691 0.086 0.635 0.319 D c -1.194 -1.180 1.000 0.747 0.403 0.052 0 0.886 0.183 0.232 0.175 -0.395 0.063 0.040 0.208 0.022 0.137 6.377 0.206 . . . 0.0218 0.0051 0.0115 0.0459 0.0001 0.0241 0.0245 0.0281 0.0334 0.0176 0.0061 0.0191 0.0530 0 0.0198 0.0249 0.0173 het 1017.77 82 17 56405046 . C T 1017.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.902;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8237;MQ=59.72;MQ0=0;MQRankSum=-1.173;QD=12.41;ReadPosRankSum=1.210;VQSLOD=5.7196;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,36:82:99:1048,0,1370 17 56435080 56435080 G C exonic RNF43 nonsynonymous SNV RNF43:NM_001305545:exon8:c.C1676G:p.P559R,RNF43:NM_001305544:exon9:c.C2057G:p.P686R,RNF43:NM_017763:exon9:c.C2057G:p.P686R 0.078 0.14 0.055 . 0.12 0.05 0.0974 0.1206 0.0551 0.0003 0.0990 0.1227 0.1112 0.0586 0.12 0.12 0.13 0.087 0.074 rs9652855 . . . . . . . . . . . . . 0.001 0.784 D 0.001 0.126 B 0.002 0.121 B 0.216 0.162 N 1 0.090 P 2.135 0.597 M 3.19 0.110 T -2.25 0.503 N 0.093 0.107 -1.043 0.164 T 0.000 0.001 T . . . 1.483 0.241 13.22 0.979 0.361 0.152 0.186 N c -0.638 -0.604 1.000 0.517 0.461 0.090 0 3.1 0.346 2.370 0.436 1.029 0.652 0.125 0.230 0.002 0.062 8.141 0.301 . . . 0.0972 0.1213 0.0617 0.1744 0.0002 0.0977 0.1233 0.1094 0.0585 0.1078 0.1160 0.0694 0.1755 0.0006 0.0942 0.1191 0.1020 het 2427.70 197 17 56435080 . G C 2427.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.029;DP=197;Dels=0.00;FS=3.276;HRun=0;HaplotypeScore=3.7192;MQ=59.34;MQ0=0;MQRankSum=-0.117;QD=12.32;ReadPosRankSum=0.850;VQSLOD=5.6357;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:97,100:197:99:2458,0,2669 17 56435885 56435885 G T exonic RNF43 nonsynonymous SNV RNF43:NM_001305545:exon8:c.C871A:p.L291M,RNF43:NM_001305544:exon9:c.C1252A:p.L418M,RNF43:NM_017763:exon9:c.C1252A:p.L418M 0.4 0.4 0.47 0.45 0.33 0.37 0.3972 0.4061 0.5895 0.4664 0.3254 0.3647 0.3876 0.3782 0.37 0.4 0.36 0.42 0.41 rs2526374 COSM4130449 1(thyroid) Benign not_specified RCV000454573.1 MedGen CN169374 . . . . . . 0.064 0.365 T 0.969 0.615 D 0.677 0.581 P 0.010 0.303 N 1 0.090 P 1.935 0.520 L 3.15 0.111 T -0.91 0.245 N 0.104 0.120 -0.917 0.459 T 0.000 0.000 T . . . 1.586 0.252 13.78 0.994 0.609 0.367 0.254 N c -0.177 -0.271 1.000 0.747 0.515 0.199 0 4.2 0.486 2.487 0.447 0.882 0.386 0.067 0.218 0.677 0.304 9.646 0.388 Zinc finger\x2c RING-type|Zinc finger\x2c RING/FYVE/PHD-type ENSG00000108395.9|ENSG00000108395.9|ENSG00000108395.9|ENSG00000005379.11|ENSG00000108395.9|ENSG00000202077.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000202077.1|ENSG00000005379.11|ENSG00000108395.9|ENSG00000005379.11|ENSG00000108395.9|ENSG00000005379.11|ENSG00000121101.11|ENSG00000005379.11|ENSG00000108395.9|ENSG00000224738.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood|Whole_Blood 0.3944 0.4064 0.5623 0.3336 0.4605 0.3171 0.3606 0.3868 0.3667 0.3736 0.3974 0.5179 0.3510 0.4493 0.3216 0.3560 0.3758 het 665.15 47 17 56435885 . G T 665.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.160;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7480;MQ=59.31;MQ0=0;MQRankSum=-0.096;QD=14.15;ReadPosRankSum=0.160;VQSLOD=6.7147;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,24:47:99:695,0,670 17 56436109 56436109 C T exonic RNF43 nonsynonymous SNV RNF43:NM_001305545:exon8:c.G647A:p.R216H,RNF43:NM_001305544:exon9:c.G1028A:p.R343H,RNF43:NM_017763:exon9:c.G1028A:p.R343H 0.065 0.0091 0.12 0.001 0.16 0.071 0.1778 0.0442 0.1879 0.0010 0.3188 0.2426 0.1441 0.1100 0.12 0.036 0.16 0.022 0.11 rs34523089 . . . . . . . . . . . . . 0.007 0.599 D 0.007 0.899 B 0.005 0.790 B 0.038 0.243 N 0.175 0.360 P 2.38 0.688 M 3.14 0.111 T -0.92 0.247 N 0.113 0.138 -1.038 0.181 T 0.000 0.001 T . . . 5.139 0.693 25.4 0.999 0.994 0.670 0.330 D c 0.019 0.031 1.000 0.517 0.581 0.326 0 2.69 0.308 3.587 0.535 0.003 0.136 1.000 0.715 0.993 0.574 8.761 0.336 Zinc finger\x2c RING-type|Zinc finger\x2c RING/FYVE/PHD-type ENSG00000108395.9 Whole_Blood 0.1094 0.0274 0.0742 0.1468 0.0003 0.1610 0.1540 0.1267 0.0675 0.1142 0.0317 0.0919 0.1987 0 0.1636 0.1604 0.1490 het 289.10 18 17 56436109 . C T 289.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=18;Dels=0.00;FS=4.786;HRun=0;HaplotypeScore=0.0000;MQ=57.18;MQ0=0;MQRankSum=1.902;QD=16.06;ReadPosRankSum=-0.181;VQSLOD=2.9826;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,11:18:99:319,0,177 17 56492800 56492800 T C exonic RNF43 nonsynonymous SNV RNF43:NM_001305544:exon2:c.A139G:p.I47V,RNF43:NM_017763:exon2:c.A139G:p.I47V 0.37 0.17 0.53 0.53 0.37 0.38 0.4048 0.2185 0.6049 0.5249 0.3588 0.3851 0.3899 0.4182 0.33 0.22 0.39 0.39 0.43 rs3744093 COSM5618411 2(breast) Benign not_specified RCV000455001.1 MedGen CN169374 . . . . . . 0.274 0.158 T 0.002 0.090 B 0.003 0.080 B 0.069 0.216 N 0.993 0.588 P 0.345 0.112 N 3.24 0.093 T -0.44 0.146 N 0.045 0.040 -0.954 0.404 T 0.000 0.000 T . . . -0.013 0.092 2.468 0.938 0.232 0.613 0.312 D c -0.425 -0.227 1.000 0.747 0.447 0.083 0 3.19 0.356 1.124 0.307 0.079 0.188 0.998 0.411 1.000 0.888 6.236 0.198 . ENSG00000182628.8|ENSG00000108395.9|ENSG00000121101.11|ENSG00000202077.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000108395.9|ENSG00000005379.11|ENSG00000182628.8|ENSG00000108395.9|ENSG00000202077.1|ENSG00000202077.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000202077.1|ENSG00000108395.9|ENSG00000202077.1|ENSG00000108395.9|ENSG00000005379.11|ENSG00000108395.9|ENSG00000108395.9|ENSG00000121101.11|ENSG00000108395.9|ENSG00000202077.1|ENSG00000005379.11|ENSG00000108395.9|ENSG00000005379.11|ENSG00000182628.8|ENSG00000108395.9|ENSG00000121101.11|ENSG00000202077.1|ENSG00000108395.9|ENSG00000108395.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid|Whole_Blood 0.4118 0.2160 0.5806 0.3883 0.5173 0.3588 0.3833 0.4043 0.4166 0.3467 0.2168 0.5358 0.4238 0.4963 0.3723 0.3862 0.3758 het 1734.73 118 17 56492800 . T C 1734.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.037;DP=118;Dels=0.00;FS=0.710;HRun=0;HaplotypeScore=3.1633;MQ=59.01;MQ0=0;MQRankSum=0.760;QD=14.70;ReadPosRankSum=0.613;VQSLOD=6.3920;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,68:118:99:1765,0,1227 17 56544280 56544280 T G exonic HSF5 nonsynonymous SNV HSF5:NM_001080439:exon3:c.A986C:p.N329T 1. 1. 1. 1. 1. 1. 0.9998 1 1 1 1 0.9996 1 1 1. 1. 1. 1. 1. rs1017089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9999 0.9999 1 1 1 0.9993 1 1 0.9995 0.9999 1 1 1 1 0.9989 1 hom 2556.69 94 17 56544280 . T G 2556.69 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5439;MQ=58.86;MQ0=0;QD=27.20;VQSLOD=7.6989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2590,193,0 17 56584205 56584205 A C exonic MTMR4 nonsynonymous SNV MTMR4:NM_004687:exon10:c.T890G:p.V297G 0.4 0.25 0.56 0.53 0.37 0.38 0.4180 0.2840 0.6575 0.5386 0.3585 0.3848 0.3984 0.4284 0.34 0.28 0.38 0.39 0.42 rs2302189 . . . . . . . . . . . . . 0.279 0.155 T 0.891 0.470 P 0.628 0.498 P 0.000 0.559 D 0.000 0.588 P 1.875 0.501 L -3.1 0.927 D -2.54 0.550 D 0.362 0.423 -1.043 0.163 T 0.000 0.000 T . . . 2.194 0.325 17.47 0.994 0.618 0.947 0.618 D c 0.334 0.359 1.000 0.489 0.672 0.522 0 4.55 0.553 3.185 0.504 1.194 0.916 1.000 0.715 0.997 0.653 10.854 0.458 Myotubularin-like phosphatase domain ENSG00000182628.8|ENSG00000108395.9|ENSG00000202077.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000108395.9|ENSG00000005379.11|ENSG00000182628.8|ENSG00000108395.9|ENSG00000202077.1|ENSG00000202077.1|ENSG00000212195.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000202077.1|ENSG00000108395.9|ENSG00000121101.11|ENSG00000202077.1|ENSG00000202077.1|ENSG00000213246.2|ENSG00000108395.9|ENSG00000005379.11|ENSG00000108384.10|ENSG00000108395.9|ENSG00000108395.9|ENSG00000121101.11|ENSG00000108395.9|ENSG00000202077.1|ENSG00000005379.11|ENSG00000108395.9|ENSG00000005379.11|ENSG00000182628.8|ENSG00000108395.9|ENSG00000121101.11|ENSG00000202077.1|ENSG00000202077.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000121101.11|ENSG00000108384.10|ENSG00000108395.9|ENSG00000121101.11|ENSG00000108395.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4175 0.2737 0.6189 0.3889 0.5279 0.3412 0.3764 0.4024 0.4209 0.3554 0.2740 0.5776 0.4338 0.5186 0.3531 0.3703 0.3783 het 373.71 41 17 56584205 . A C 373.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.348;DP=41;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9832;MQ=58.75;MQ0=0;MQRankSum=-0.939;QD=9.11;ReadPosRankSum=-0.066;VQSLOD=6.1029;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:404,0,643 17 56584508 56584508 T C exonic MTMR4 nonsynonymous SNV MTMR4:NM_004687:exon9:c.A838G:p.S280G 0.33 0.47 0.14 0.32 0.22 0.4 0.2462 0.4292 0.1279 0.3215 0.2216 0.2059 0.2572 0.3470 0.28 0.42 0.2 0.26 0.16 rs2302190 COSM3755723 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.52 0.072 T 0.0 0.026 B 0.005 0.104 B 0.000 0.629 D 0.998 0.224 P 0.655 0.162 N -3.33 0.939 D -0.35 0.129 N 0.095 0.095 -1.056 0.128 T 0.000 0.000 T . . . 1.198 0.210 11.74 0.817 0.134 0.910 0.524 D c -0.499 -0.288 1.000 0.747 0.672 0.522 0 4.09 0.469 1.072 0.301 1.061 0.807 0.774 0.292 0.999 0.750 10.708 0.450 Myotubularin-like phosphatase domain ENSG00000108395.9|ENSG00000108395.9|ENSG00000108395.9|ENSG00000108395.9|ENSG00000108395.9 Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Nerve_Tibial|Whole_Blood 0.2396 0.4339 0.1296 0.3043 0.3268 0.2224 0.2012 0.2362 0.3455 0.2768 0.4303 0.1480 0.2715 0.3466 0.2099 0.2045 0.2531 het 831.64 78 17 56584508 . T C 831.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.170;DP=78;Dels=0.00;FS=1.939;HRun=1;HaplotypeScore=0.8667;MQ=58.87;MQ0=0;MQRankSum=0.687;QD=10.66;ReadPosRankSum=-1.138;VQSLOD=6.3721;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,36:78:99:862,0,1192 17 56585872 56585872 G C exonic MTMR4 nonsynonymous SNV MTMR4:NM_004687:exon7:c.C508G:p.L170V 0.4 0.25 0.56 0.52 0.36 0.38 0.4093 0.2802 0.6502 0.5204 0.3464 0.3774 0.3844 0.4194 0.34 0.28 0.37 0.4 0.42 rs3744108 . . . . . . . . . . . . . 0.087 0.324 T 0.25 0.295 B 0.1 0.291 B 0.000 0.513 D 0.001 0.465 P 0.945 0.238 L -3.1 0.927 D -1.25 0.316 N 0.223 0.274 -0.971 0.371 T 0.000 0.000 T . . . 3.523 0.481 23.1 0.957 0.271 0.934 0.580 D c -0.078 0.103 0.999 0.387 0.707 0.730 0 5.11 0.691 2.724 0.467 1.048 0.713 1.000 0.715 1.000 0.888 8.487 0.321 Myotubularin-like phosphatase domain;Myotubularin-like phosphatase domain|Protein-tyrosine phosphatase-like ENSG00000182628.8|ENSG00000108395.9|ENSG00000202077.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000108395.9|ENSG00000005379.11|ENSG00000182628.8|ENSG00000108395.9|ENSG00000202077.1|ENSG00000202077.1|ENSG00000212195.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000202077.1|ENSG00000108395.9|ENSG00000121101.11|ENSG00000202077.1|ENSG00000202077.1|ENSG00000213246.2|ENSG00000108395.9|ENSG00000005379.11|ENSG00000108384.10|ENSG00000108395.9|ENSG00000108395.9|ENSG00000121101.11|ENSG00000108395.9|ENSG00000202077.1|ENSG00000005379.11|ENSG00000108395.9|ENSG00000005379.11|ENSG00000182628.8|ENSG00000108395.9|ENSG00000121101.11|ENSG00000202077.1|ENSG00000202077.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000121101.11|ENSG00000266826.1|ENSG00000108384.10|ENSG00000108395.9|ENSG00000121101.11|ENSG00000108395.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4154 0.2809 0.6177 0.3892 0.5130 0.3405 0.3751 0.4026 0.4180 0.3556 0.2813 0.5740 0.4333 0.4957 0.3534 0.3692 0.3753 het 1702.74 134 17 56585872 . G C 1702.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.764;DP=134;Dels=0.00;FS=6.523;HRun=0;HaplotypeScore=4.8738;MQ=58.56;MQ0=0;MQRankSum=0.639;QD=12.71;ReadPosRankSum=0.861;VQSLOD=4.6307;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,66:134:99:1733,0,1767 17 56598439 56598439 T C exonic SEPT4 synonymous SNV SEPT4:NM_001198713:exon10:c.A1173G:p.T391T,SEPT4:NM_001256822:exon10:c.A756G:p.T252T,SEPT4:NM_004574:exon10:c.A1197G:p.T399T,SEPT4:NM_080416:exon10:c.A1140G:p.T380T,SEPT4:NM_001256782:exon11:c.A1242G:p.T414T 0.4 0.27 0.58 0.52 0.37 0.36 0.4131 0.3010 0.6578 0.5211 0.3477 0.3835 0.3866 0.4030 0.35 0.3 0.38 0.41 0.43 rs1057068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4193 0.3020 0.6271 0.3946 0.5128 0.3417 0.3811 0.4112 0.4029 0.3645 0.3001 0.5837 0.4437 0.4969 0.3546 0.3748 0.3834 het 2692.01 213 17 56598439 . T C 2692.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.750;DP=213;DS;Dels=0.00;FS=0.514;HRun=0;HaplotypeScore=1.7876;MQ=59.61;MQ0=0;MQRankSum=0.986;QD=12.64;ReadPosRankSum=1.696;VQSLOD=6.2686;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,104:213:99:2722,0,3015 17 56598991 56598991 T A exonic SEPT4 nonsynonymous SNV SEPT4:NM_001198713:exon8:c.A908T:p.E303V,SEPT4:NM_001256822:exon8:c.A491T:p.E164V,SEPT4:NM_004574:exon8:c.A932T:p.E311V,SEPT4:NM_080416:exon8:c.A875T:p.E292V,SEPT4:NM_001256782:exon9:c.A977T:p.E326V 0.043 0.0045 0.053 . 0.12 0.051 0.0860 0.0198 0.0537 0.0003 0.0983 0.1187 0.1112 0.0570 0.087 0.023 0.12 0.011 0.098 rs17741424 COSM1579559;COSM4998065;COSM4998064 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.007 0.614 D 0.726 0.479 P 0.499 0.540 P 0.000 0.629 D 0.000 0.810 P 1.765 0.459 L 1.23 0.369 T -5.1 0.831 D 0.219 0.592 -1.087 0.060 T 0.002 0.008 T . . . 3.722 0.504 23.3 0.874 0.167 0.968 0.709 D c 0.388 0.453 1.000 0.747 0.706 0.609 0 5.59 0.846 5.134 0.644 1.042 0.661 1.000 0.715 0.979 0.486 13.705 0.620 P-loop containing nucleoside triphosphate hydrolase|Septin-type guanine nucleotide-binding (G) domain ENSG00000108395.9|ENSG00000121101.11|ENSG00000121101.11 Artery_Tibial|Muscle_Skeletal|Nerve_Tibial 0.0886 0.0182 0.0585 0.1824 0.0002 0.0978 0.1184 0.1059 0.0577 0.0813 0.0181 0.0646 0.1821 0 0.0967 0.1202 0.1110 het 2264.54 164 17 56598991 . T A 2264.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.101;DP=164;Dels=0.00;FS=2.845;HRun=0;HaplotypeScore=7.4968;MQ=58.97;MQ0=0;MQRankSum=0.360;QD=13.81;ReadPosRankSum=2.265;VQSLOD=4.2306;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,89:164:99:2295,0,1987 17 56621286 56621286 G T exonic C17orf47 nonsynonymous SNV C17orf47:NM_001038704:exon1:c.C262A:p.P88T 0.9 0.91 0.87 1. 0.77 0.92 0.8410 0.9080 0.8988 0.9997 0.8224 0.7885 0.8139 0.8966 0.82 0.9 0.78 0.76 0.77 rs8071623 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.704 0.062 N 1 0.090 P -1.59 0.004 N 1.79 0.255 T 4.33 0.000 N 0.093 0.092 -0.989 0.329 T 0.000 0.000 T . . . 0.180 0.111 4.469 0.455 0.035 0.002 0.011 N c -1.372 -1.291 0.025 0.137 0.447 0.083 0 2.03 0.256 -0.091 0.110 -0.228 0.095 0.000 0.063 0.001 0.043 4.672 0.120 . ENSG00000108395.9|ENSG00000182628.8|ENSG00000182628.8|ENSG00000202077.1|ENSG00000182628.8|ENSG00000108375.8|ENSG00000108395.9|ENSG00000121101.11|ENSG00000121101.11|ENSG00000108387.10|ENSG00000121101.11|ENSG00000108395.9 Adipose_Subcutaneous|Artery_Tibial|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.8429 0.9162 0.8919 0.7882 0.9995 0.8267 0.7893 0.8115 0.8947 0.8483 0.9074 0.8768 0.7833 0.9988 0.8212 0.8038 0.8484 hom 2538.81 88 17 56621286 . G T 2538.81 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7523;MQ=58.98;MQ0=0;QD=28.85;VQSLOD=7.7837;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:3,85:88:99:2572,214,0 17 56621359 56621359 T C exonic C17orf47 synonymous SNV C17orf47:NM_001038704:exon1:c.A189G:p.S63S 0.91 0.97 0.87 1. 0.77 0.92 0.8450 0.9498 0.9005 0.9995 0.8221 0.7888 0.8150 0.8967 0.84 0.94 0.78 0.78 0.76 rs6503867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8459 0.9567 0.8934 0.7883 0.9994 0.8266 0.7897 0.8129 0.8950 0.8602 0.9497 0.8786 0.7781 0.9988 0.8214 0.8037 0.8484 hom 3872.51 122 17 56621359 . T C 3872.51 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9973;MQ=59.20;MQ0=0;QD=31.74;VQSLOD=9.5583;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3872,316,0 17 56636854 56636854 T C exonic TEX14 synonymous SNV TEX14:NM_031272:exon30:c.A4227G:p.E1409E,TEX14:NM_001201457:exon31:c.A4365G:p.E1455E,TEX14:NM_198393:exon31:c.A4347G:p.E1449E 0.9 0.91 0.87 1. 0.77 0.92 0.8413 0.9085 0.8989 0.9997 0.8224 0.7888 0.8139 0.8967 0.82 0.9 0.79 0.76 0.77 rs7225128 COSM1178444 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8432 0.9164 0.8924 0.7886 0.9995 0.8267 0.7899 0.8120 0.8945 0.8487 0.9079 0.8771 0.7833 0.9988 0.8216 0.8041 0.8469 hom 7542.58 246 17 56636854 . T C 7542.58 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=58.74;MQ0=0;QD=30.66;VQSLOD=9.2387;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7542,572,0 17 56636908 56636908 T C exonic TEX14 synonymous SNV TEX14:NM_031272:exon30:c.A4173G:p.K1391K,TEX14:NM_001201457:exon31:c.A4311G:p.K1437K,TEX14:NM_198393:exon31:c.A4293G:p.K1431K 0.28 0.34 0.12 0.3 0.2 0.36 0.2177 0.3031 0.1126 0.3090 0.1978 0.1884 0.2335 0.3154 0.22 0.29 0.18 0.2 0.13 rs9903050 COSM4000237;COSM4000236 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2127 0.3051 0.1141 0.2681 0.3148 0.1969 0.1852 0.2051 0.3122 0.2298 0.3036 0.1325 0.2351 0.3364 0.1838 0.1913 0.2331 het 1860.58 149 17 56636908 . T C 1860.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.496;DP=149;DS;Dels=0.00;FS=2.336;HRun=1;HaplotypeScore=4.8066;MQ=58.99;MQ0=0;MQRankSum=-0.735;QD=12.49;ReadPosRankSum=0.862;VQSLOD=5.3225;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,66:149:99:1891,0,2146 17 56659018 56659018 C T exonic TEX14 nonsynonymous SNV TEX14:NM_001201457:exon20:c.G3263A:p.G1088D,TEX14:NM_198393:exon20:c.G3245A:p.G1082D 0.61 0.75 0.43 0.48 0.63 0.64 0.5923 0.7138 0.3489 0.4814 0.6525 0.6221 0.6192 0.5985 0.65 0.71 0.62 0.6 0.54 rs6503870 COSM4000238 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(skin) . . . . . . . . . . . 0.764 0.034 T 0.0 0.026 B 0.0 0.013 B 0.799 0.068 N 1 0.090 P 0 0.065 N -1.17 0.782 T 0.23 0.046 N 0.05 0.031 -0.936 0.433 T 0.000 0.000 T . . . 0.810 0.171 9.526 0.223 0.009 0.001 0.008 N c -1.627 -1.532 0.000 0.054 0.497 0.185 0 -1.65 0.078 0.485 0.219 -0.208 0.100 0.302 0.251 0.983 0.502 1.232 0.018 . ENSG00000182628.8|ENSG00000108395.9|ENSG00000202077.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000108395.9|ENSG00000005379.11|ENSG00000182628.8|ENSG00000108395.9|ENSG00000202077.1|ENSG00000202077.1|ENSG00000212195.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000202077.1|ENSG00000108395.9|ENSG00000121101.11|ENSG00000202077.1|ENSG00000202077.1|ENSG00000213246.2|ENSG00000108395.9|ENSG00000005379.11|ENSG00000108384.10|ENSG00000108395.9|ENSG00000108395.9|ENSG00000121101.11|ENSG00000108395.9|ENSG00000202077.1|ENSG00000005379.11|ENSG00000108395.9|ENSG00000005379.11|ENSG00000182628.8|ENSG00000108395.9|ENSG00000121101.11|ENSG00000202077.1|ENSG00000202077.1|ENSG00000202077.1|ENSG00000108395.9|ENSG00000121101.11|ENSG00000266826.1|ENSG00000108384.10|ENSG00000108395.9|ENSG00000121101.11|ENSG00000108395.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.5855 0.7119 0.3776 0.6106 0.4869 0.6589 0.6246 0.5974 0.5992 0.6422 0.7130 0.4269 0.5767 0.4981 0.6458 0.6303 0.6227 het 1084.97 75 17 56659018 . C T 1084.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.614;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8633;MQ=59.50;MQ0=0;MQRankSum=0.910;QD=14.47;ReadPosRankSum=-0.633;VQSLOD=6.5631;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,41:75:99:1115,0,1006 17 57287454 57287454 A G exonic SMG8 synonymous SNV SMG8:NM_018149:exon1:c.A42G:p.A14A 0.66 0.95 0.56 0.44 0.62 0.62 0.6332 0.9032 0.5314 0.4584 0.6219 0.6335 0.6476 0.6281 0.72 0.89 0.63 0.74 0.61 rs6503905 COSM3932680 2(urinary_tract);1(biliary_tract) . . . . . Circulating myeloperoxidase levels (plasma) . -0.06 23620142 rs6503905 3E-12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6186 0.9053 0.5286 0.6468 0.4588 0.6181 0.6291 0.6224 0.6022 0.7020 0.8968 0.5931 0.6225 0.4585 0.6141 0.6472 0.6368 het 587.78 45 17 57287454 . A G 587.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.693;DP=45;Dels=0.00;FS=4.675;HRun=0;HaplotypeScore=0.7340;MQ=58.02;MQ0=0;MQRankSum=1.192;QD=13.06;ReadPosRankSum=0.443;VQSLOD=5.1125;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,23:45:99:618,0,551 17 57963537 57963537 A G exonic TUBD1 nonsynonymous SNV TUBD1:NM_001193609:exon3:c.T227C:p.M76T,TUBD1:NM_001193610:exon3:c.T227C:p.M76T,TUBD1:NM_001193611:exon3:c.T227C:p.M76T,TUBD1:NM_016261:exon3:c.T227C:p.M76T 0.48 0.52 0.46 0.58 0.42 0.41 0.4462 0.4799 0.3991 0.5814 0.4309 0.4374 0.4636 0.4281 0.45 0.48 0.44 0.43 0.37 rs1292053 COSM148311 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . Inflammatory bowel disease 1.08 . 23128233 rs1292053 9E-13 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.588 P -1.415 0.006 N -0.47 0.701 T 3.64 0.001 N 0.03 0.075 -0.926 0.447 T 0.000 0.000 T . . . 0.283 0.121 5.529 0.603 0.063 0.462 0.275 N c -0.713 -0.446 0.003 0.099 0.707 0.730 0 4.1 0.470 4.260 0.584 0.136 0.221 1.000 0.715 0.993 0.574 11.301 0.484 Tubulin/FtsZ\x2c GTPase domain . . 0.4461 0.4831 0.4132 0.4208 0.5767 0.4229 0.4410 0.4599 0.4317 0.4549 0.4838 0.4462 0.4667 0.5628 0.4209 0.4356 0.4405 het 835.54 98 17 57963537 . A G 835.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.241;DP=98;Dels=0.00;FS=3.137;HRun=0;HaplotypeScore=3.7966;MQ=59.32;MQ0=0;MQRankSum=0.709;QD=8.53;ReadPosRankSum=0.917;VQSLOD=5.5476;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,38:98:99:866,0,1632 17 58031412 58031412 A G exonic RNFT1 synonymous SNV RNFT1:NM_016125:exon8:c.T1167C:p.I389I 0.58 0.88 0.5 0.58 0.42 0.4 0.4785 0.8111 0.4164 0.5819 0.4311 0.4424 0.4774 0.4338 0.55 0.8 0.44 0.63 0.34 rs11368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4717 0.8145 0.4376 0.4228 0.5782 0.4203 0.4417 0.4721 0.4348 0.5486 0.8072 0.4724 0.4636 0.5633 0.4206 0.4380 0.4581 het 299.48 23 17 58031412 . A G 299.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.077;DP=23;Dels=0.00;FS=1.935;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=0.523;QD=13.02;ReadPosRankSum=-0.954;VQSLOD=5.6193;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:329,0,340 17 58786625 58786625 A G exonic BCAS3 nonsynonymous SNV BCAS3:NM_001099432:exon5:c.A260G:p.N87S,BCAS3:NM_001320470:exon5:c.A260G:p.N87S,BCAS3:NM_001330413:exon5:c.A260G:p.N87S,BCAS3:NM_001330414:exon5:c.A260G:p.N87S,BCAS3:NM_017679:exon5:c.A260G:p.N87S 0.75 0.21 0.94 0.9 0.99 0.94 0.9258 0.3433 0.9594 0.9122 0.9986 0.9942 0.9444 0.9487 0.81 0.4 0.99 0.66 0.97 rs2643103 . . . . . . . . . . . . . 0.61 0.093 T 0.206 0.282 B 0.054 0.244 B 0.000 0.537 N 0.000 0.482 P 0.855 0.214 L 3.44 0.054 T -1.0 0.264 N 0.126 0.143 -0.906 0.474 T 0.000 0.000 T . . . 0.828 0.173 9.637 0.981 0.376 0.780 0.381 D c -0.271 -0.088 0.003 0.099 0.563 0.310 0 4.76 0.600 3.595 0.535 1.041 0.660 1.000 0.715 0.983 0.502 11.302 0.484 . . . 0.9366 0.3352 0.9578 0.9944 0.9134 0.9988 0.9942 0.9556 0.9489 0.8094 0.3554 0.9499 1 0.9222 0.9994 0.9947 0.9581 hom 2510.61 84 17 58786625 . A G 2510.61 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.27;MQ0=0;QD=29.89;VQSLOD=8.7957;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2544,193,0 17 58824567 58824567 T C exonic BCAS3 synonymous SNV BCAS3:NM_001099432:exon6:c.T330C:p.G110G,BCAS3:NM_001320470:exon6:c.T330C:p.G110G,BCAS3:NM_001330413:exon6:c.T330C:p.G110G,BCAS3:NM_001330414:exon6:c.T330C:p.G110G,BCAS3:NM_017679:exon6:c.T330C:p.G110G 0.99 0.98 1. 1. 1. 1. 0.9980 0.9800 0.9989 1 0.9988 0.9997 0.9956 0.9999 0.99 0.98 1. 1. 1. rs7501675 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9982 0.9791 0.9987 0.9999 1 0.9993 0.9996 0.9980 0.9999 0.9941 0.9801 0.9976 1 1 0.9997 0.9996 0.9990 hom 5514.61 188 17 58824567 . T C 5514.61 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.585;DP=188;Dels=0.00;FS=5.089;HRun=0;HaplotypeScore=1.4972;MQ=59.33;MQ0=0;MQRankSum=-0.866;QD=29.33;ReadPosRankSum=-1.087;VQSLOD=3.9439;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,187:188:99:5488,405,0 17 59485555 59485555 C T exonic TBX2 synonymous SNV TBX2:NM_005994:exon7:c.C1827T:p.S609S 0.42 0.2 0.42 0.37 0.73 0.47 0.6044 0.2824 0.3640 0.3638 0.7273 0.7265 0.6382 0.5505 0.58 0.29 0.72 0.43 0.65 rs1057987 COSM4130466 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5975 0.2656 0.3818 0.6954 0.3650 0.7221 0.7259 0.6174 0.5461 0.5722 0.2770 0.4127 0.7318 0.3245 0.7252 0.7343 0.6684 hom 1787.29 62 17 59485555 . C T 1787.29 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.70;MQ0=0;QD=28.83;VQSLOD=7.4488;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,60:62:99:1820,156,0 17 59534904 59534904 G C exonic TBX4 nonsynonymous SNV TBX4:NM_018488:exon2:c.G193C:p.E65Q,TBX4:NM_001321120:exon3:c.G193C:p.E65Q . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.01 0.564 D 0.996 0.670 D 0.924 0.642 D 0.000 0.843 D 1 0.810 D 0.895 0.225 L -2.15 0.865 D -1.57 0.379 N 0.521 0.563 0.102 0.842 D 0.573 0.846 D 0.129 0.811 D 6.943 0.934 33 0.998 0.906 0.990 0.903 D c 0.586 0.672 1.0 0.983 0.598 0.340 0 5.63 0.861 9.362 0.965 0.953 0.551 1.000 0.715 1.000 0.888 18.262 0.899 . . . 4.061e-06 0 0 0 0 0 8.951e-06 0 0 . . . . . . . . het 1685.16 147 17 59534904 . G C 1685.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.778;DP=147;Dels=0.01;FS=2.169;HRun=1;HaplotypeScore=7.3320;MQ=58.70;MQ0=0;MQRankSum=1.219;QD=11.39;ReadPosRankSum=-0.268;VQSLOD=3.1300;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:84,63:147:99:1715,0,2022 17 59557600 59557600 C T exonic TBX4 nonsynonymous SNV TBX4:NM_018488:exon7:c.C941T:p.A314V,TBX4:NM_001321120:exon8:c.C941T:p.A314V 0.21 0.44 0.13 0.11 0.12 0.16 0.1454 0.4192 0.1105 0.1077 0.0884 0.1228 0.1555 0.1313 0.22 0.41 0.12 0.29 0.15 rs3744438 COSM3755736 1(large_intestine) Benign|Benign not_specified|Ischiopatellar_dysplasia RCV000249399.1|RCV000320885.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1840061:147891:ORPHA1509 . . . . . . 0.035 0.437 D 0.871 0.459 P 0.198 0.351 B 0.011 0.297 N 0.999 0.219 P 1.1 0.281 L -1.5 0.813 D -0.4 0.138 N 0.077 0.072 -1.014 0.256 T 0.000 0.000 T . . . 2.341 0.343 18.43 0.996 0.760 0.733 0.356 D c -0.112 -0.127 1.000 0.747 0.497 0.185 0 5.84 0.934 4.568 0.603 0.935 0.490 0.321 0.253 0.001 0.043 19.126 0.933 . . . 0.1384 0.4197 0.1140 0.2012 0.1075 0.0865 0.1188 0.1445 0.1293 0.1904 0.4034 0.1372 0.21 0.1033 0.0872 0.1079 0.1202 het 1495.90 89 17 59557600 . C T 1495.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.386;DP=89;Dels=0.00;FS=8.453;HRun=0;HaplotypeScore=1.6630;MQ=58.85;MQ0=0;MQRankSum=1.009;QD=16.81;ReadPosRankSum=-0.281;VQSLOD=4.4843;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,53:89:99:1526,0,660 17 59560463 59560463 C T exonic TBX4 synonymous SNV TBX4:NM_018488:exon8:c.C1224T:p.D408D,TBX4:NM_001321120:exon9:c.C1227T:p.D409D 0.12 0.11 0.076 0.12 0.099 0.16 0.1019 0.1090 0.0806 0.1015 0.0706 0.1026 0.1090 0.1220 0.11 0.11 0.1 0.15 0.13 rs7218485 COSM1384986 1(large_intestine) Benign Ischiopatellar_dysplasia RCV000351494.1 MedGen:OMIM:Orphanet C1840061:147891:ORPHA1509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1011 0.1076 0.0846 0.1765 0.1025 0.0698 0.0989 0.1123 0.1195 0.0929 0.1060 0.0754 0.18 0.0929 0.0727 0.0894 0.0891 het 2175.77 146 17 59560463 . C T 2175.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.156;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6073;MQ=59.54;MQ0=0;MQRankSum=-0.282;QD=14.90;ReadPosRankSum=0.929;VQSLOD=6.0398;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,82:146:99:2206,0,1772 17 59760996 59760996 A G exonic BRIP1 synonymous SNV BRIP1:NM_032043:exon20:c.T3411C:p.Y1137Y 0.62 0.66 0.73 0.75 0.56 0.41 0.5941 0.6531 0.8008 0.7230 0.4284 0.5842 0.5808 0.4525 0.61 0.64 0.59 0.67 0.52 rs4986763 . . Benign|Benign|Likely benign|Likely benign|Benign|Benign Hereditary_cancer-predisposing_syndrome|not_specified|Fanconi_anemia|Breast_cancer|Fanconi_anemia\x2c_complementation_group_J|Neoplasm_of_ovary RCV000162378.1|RCV000251677.1|RCV000283962.1|RCV000341269.1|RCV000410144.1|RCV000411217.1 MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:OMIM|Gene:MedGen:OMIM:SNOMED_CT C0027672:699346009|CN169374|C0015625:ORPHA84:30575002|CN221572|C1836860:609054|6765:C0919267:167000:123843001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5973 0.6549 0.7940 0.5696 0.7153 0.4180 0.5865 0.6228 0.4560 0.5824 0.6486 0.7584 0.6291 0.7076 0.4205 0.5619 0.5133 hom 2970.18 93 17 59760996 . A G 2970.18 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=31.94;VQSLOD=9.1173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3003,253,0 17 59761412 59761415 TCTT - exonic BRIP1 frameshift deletion BRIP1:NM_032043:exon20:c.2992_2995del:p.K998Efs*59 . . . . . . . . . . . . . . . . . . . rs786203717 . . Pathogenic|Likely pathogenic|Likely pathogenic Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia\x2c_complementation_group_J RCV000167141.1|RCV000458808.1|RCV000458808.1 MedGen:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM C0027672:699346009|C0346153:114480:ORPHA227535:254843006|C1836860:609054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.22e-05 0 0 0 0 0 1.793e-05 0.0002 0 3.23e-05 0 0 0 0 0 6.666e-05 0 het 1754.94 76 17 59761411 . CTCTT C 1754.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.940;DP=76;FS=0.000;HRun=0;HaplotypeScore=349.1594;MQ=57.39;MQ0=0;MQRankSum=-0.326;QD=23.09;ReadPosRankSum=0.955;set=variant2 GT:AD:DP:GQ:PL 0/1:38,38:76:99:1794,0,2237 17 59763347 59763347 A G exonic BRIP1 nonsynonymous SNV BRIP1:NM_032043:exon19:c.T2755C:p.S919P 0.63 0.69 0.74 0.76 0.56 0.41 0.5972 0.6702 0.8060 0.7235 0.4282 0.5860 0.5804 0.4525 0.61 0.66 0.59 0.7 0.54 rs4986764 . . Benign|Benign|Likely benign|Likely benign|Benign|Benign not_specified|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Breast_cancer|Neoplasm_of_ovary|Fanconi_anemia\x2c_complementation_group_J RCV000120400.2|RCV000132148.3|RCV000286073.1|RCV000377937.1|RCV000410195.1|RCV000412161.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT|MedGen|Gene:MedGen:OMIM:SNOMED_CT|MedGen:OMIM CN169374|C0027672:699346009|C0015625:ORPHA84:30575002|CN221572|6765:C0919267:167000:123843001|C1836860:609054 . . . . . . 0.154 0.242 T 0.0 0.026 B 0.0 0.013 B 0.053 0.020 N 1 0.090 P . . . -0.86 0.754 T -0.7 0.199 N 0.026 0.008 -0.937 0.432 T 0.000 0.000 T . . . -0.521 0.054 0.195 0.902 0.189 0.004 0.021 N c -1.143 -1.165 0.000 0.042 0.638 0.428 0 0.71 0.172 0.201 0.169 -1.189 0.016 0.001 0.137 0.000 0.016 5.650 0.168 . . . 0.5998 0.6755 0.7993 0.5885 0.7153 0.4176 0.5873 0.6259 0.4562 0.5893 0.6691 0.7655 0.6490 0.7063 0.4212 0.5632 0.5173 hom 5292.33 167 17 59763347 . A G 5292.33 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4684;MQ=59.81;MQ0=0;QD=31.69;VQSLOD=8.1290;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5292,403,0 17 59763465 59763465 T C exonic BRIP1 synonymous SNV BRIP1:NM_032043:exon19:c.A2637G:p.E879E 0.82 0.94 0.83 0.91 0.65 0.7 0.7188 0.9048 0.8760 0.8933 0.5210 0.6648 0.7152 0.6980 0.73 0.89 0.66 0.77 0.64 rs4986765 . . Benign|Benign|Likely benign|Likely benign|Benign|Benign Hereditary_cancer-predisposing_syndrome|not_specified|Fanconi_anemia|Breast_cancer|Fanconi_anemia\x2c_complementation_group_J|Neoplasm_of_ovary RCV000162379.1|RCV000242120.1|RCV000290016.1|RCV000347348.1|RCV000410880.1|RCV000412411.1 MedGen:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:OMIM|Gene:MedGen:OMIM:SNOMED_CT C0027672:699346009|CN169374|C0015625:ORPHA84:30575002|CN221572|C1836860:609054|6765:C0919267:167000:123843001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7159 0.9118 0.8681 0.6948 0.8913 0.5088 0.6633 0.7276 0.6994 0.7178 0.9073 0.8473 0.7483 0.8812 0.5120 0.6355 0.6307 hom 4649.77 155 17 59763465 . T C 4649.77 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7748;MQ=59.43;MQ0=0;QD=30.00;VQSLOD=8.4906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4649,352,0 17 59955426 59955426 T G exonic INTS2 nonsynonymous SNV INTS2:NM_001330417:exon18:c.A2278C:p.N760H,INTS2:NM_001351695:exon18:c.A2278C:p.N760H,INTS2:NM_020748:exon18:c.A2302C:p.N768H 1. 0.99 1. 1. 1. 1. 0.9984 0.9810 0.9992 1 1 1.0000 1 1 0.99 0.98 1. 0.97 . rs606072 . . . . . . . . . . . . . 0.446 0.091 T 0.0 0.026 B 0.0 0.013 B 0.001 0.419 N 1.000 0.090 P -1.39 0.006 N 1.0 0.414 T 0.95 0.015 N 0.065 0.084 -1.011 0.265 T 0.000 0.000 T . . . 0.981 0.188 10.55 0.752 0.106 0.053 0.110 N c -0.877 -0.663 0.000 0.041 0.706 0.609 0 1.33 0.209 1.463 0.347 -0.235 0.093 1.000 0.715 0.993 0.574 6.213 0.197 . . . 0.9987 0.9809 0.9995 1 1 1 0.9999 0.9991 1 0.9945 0.9808 1 1 1 1 0.9999 1 hom 2561.26 84 17 59955426 . T G 2561.26 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7329;MQ=58.70;MQ0=0;QD=30.49;VQSLOD=9.3299;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2594,202,0 17 60040329 60040329 C T exonic MED13 synonymous SNV MED13:NM_005121:exon21:c.G4848A:p.T1616T 0.28 0.38 0.2 0.52 0.12 0.13 0.1854 0.3472 0.1849 0.5155 0.2198 0.1283 0.1659 0.1361 0.18 0.33 0.12 0.3 0.11 rs2278812 COSM1385042 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1862 0.3494 0.1843 0.1558 0.5191 0.2240 0.1223 0.1710 0.1370 0.2226 0.3449 0.1930 0.1267 0.5099 0.2245 0.1283 0.1530 het 1826.37 112 17 60040329 . C T 1826.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.728;DP=112;Dels=0.00;FS=1.112;HRun=1;HaplotypeScore=2.6996;MQ=59.83;MQ0=0;MQRankSum=-1.103;QD=16.31;ReadPosRankSum=0.249;VQSLOD=5.9255;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,62:112:99:1856,0,1217 17 60043884 60043884 G A exonic MED13 synonymous SNV MED13:NM_005121:exon19:c.C4320T:p.D1440D 1. 0.99 1. 1. 1. 1. 0.9983 0.9801 0.9992 1 1 1.0000 1 1 0.99 0.98 1. 1. 1. rs671347 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9987 0.9803 0.9995 1 1 1 1.0000 0.9991 1 0.9943 0.9796 1 1 1 1 1 1 hom 3334.70 116 17 60043884 . G A 3334.70 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.702;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7329;MQ=59.10;MQ0=0;MQRankSum=0.256;QD=28.75;ReadPosRankSum=1.310;VQSLOD=8.0328;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,114:116:99:3299,256,0 17 60758273 60758273 G C exonic MRC2 synonymous SNV MRC2:NM_006039:exon17:c.G2586C:p.S862S 0.85 0.63 0.96 0.93 0.98 0.84 0.9382 0.6974 0.9776 0.9194 0.9915 0.9854 0.9695 0.8587 0.89 0.71 0.98 0.47 0.93 rs2245463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9449 0.6860 0.9772 0.9841 0.9170 0.9912 0.9848 0.9661 0.8598 0.8988 0.6971 0.9714 0.9868 0.9007 0.9891 0.9844 0.9704 hom 1773.77 59 17 60758273 . G C 1773.77 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=30.06;VQSLOD=8.0692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1807,147,0 17 60766224 60766224 A G exonic MRC2 synonymous SNV MRC2:NM_006039:exon23:c.A3237G:p.A1079A 0.88 0.72 0.97 0.94 0.99 0.86 0.9507 0.7791 0.9822 0.9357 0.9924 0.9882 0.9724 0.8748 0.92 0.79 0.99 0.9 0.94 rs2465430 COSM4130474 1(thyroid) . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.415 P . . . 4.05 0.031 T 0.44 0.033 N . . -1.014 0.258 T 0.000 0.000 T . . . -0.363 0.064 0.475 0.448 0.034 0.025 0.069 N c -1.836 -1.850 0.006 0.111 0.707 0.730 0 -1.93 0.071 -1.843 0.018 -0.229 0.095 0.000 0.063 0.990 0.544 2.293 0.039 . . . 0.9552 0.7679 0.9810 0.9927 0.9330 0.9921 0.9871 0.9715 0.8750 0.9241 0.7768 0.9761 0.9967 0.9254 0.9897 0.9870 0.9704 hom 609.04 20 17 60766224 . A G 609.04 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.45;VQSLOD=11.9418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:54.13:642,54,0 17 60767015 60767015 G A exonic MRC2 nonsynonymous SNV MRC2:NM_006039:exon24:c.G3467A:p.R1156H 0.8 0.44 0.95 0.94 0.98 0.85 0.9291 0.5677 0.9698 0.9387 0.9918 0.9845 0.9589 0.8608 0.84 0.55 0.98 0.54 0.76 rs2429387 COSM3755740 1(large_intestine) . . . . . . . . . . . 0.36 0.119 T 0.005 0.119 B 0.004 0.093 B 0.036 0.245 N 0.592 0.588 P 0.955 0.240 L 0.57 0.544 T 0.43 0.033 N 0.078 0.069 -0.998 0.305 T 0.000 0.000 T . . . 2.309 0.339 18.22 0.746 0.104 0.876 0.469 D c -0.688 -0.595 0.003 0.101 0.732 0.924 0 -1.07 0.094 1.128 0.308 0.143 0.228 0.997 0.399 0.948 0.423 5.477 0.159 C-type lectin|C-type lectin fold|C-type lectin-like . . 0.9345 0.5144 0.9677 0.9844 0.9329 0.9915 0.9838 0.9588 0.8590 0.8525 0.5281 0.9665 0.9867 0.9236 0.9894 0.9846 0.9611 hom 492.45 16 17 60767015 . G A 492.45 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.05;MQ0=0;QD=30.78;VQSLOD=8.6463;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:525,45,0 17 60813627 60813627 G A exonic MARCH10 synonymous SNV MARCH10:NM_001100875:exon6:c.C1602T:p.N534N,MARCH10:NM_152598:exon6:c.C1602T:p.N534N,MARCH10:NM_001288779:exon7:c.C1716T:p.N572N,MARCH10:NM_001288780:exon7:c.C1599T:p.N533N 0.27 0.13 0.39 0.21 0.42 0.29 0.3589 0.1805 0.4425 0.1963 0.3607 0.4031 0.3451 0.3187 0.32 0.19 0.39 0.24 0.39 rs2041283 COSM3755741 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3596 0.1706 0.4291 0.3740 0.1965 0.3662 0.3984 0.3702 0.3173 0.3212 0.1848 0.4368 0.3146 0.2259 0.3700 0.3891 0.3809 hom 3461.91 110 17 60813627 . G A 3461.91 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=57.71;MQ0=0;QD=31.47;VQSLOD=7.9679;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3461,283,0 17 60814273 60814273 A G exonic MARCH10 nonsynonymous SNV MARCH10:NM_001100875:exon6:c.T956C:p.F319S,MARCH10:NM_152598:exon6:c.T956C:p.F319S,MARCH10:NM_001288779:exon7:c.T1070C:p.F357S,MARCH10:NM_001288780:exon7:c.T953C:p.F318S 0.27 0.13 0.39 0.21 0.42 0.29 0.3595 0.1817 0.4428 0.1967 0.3615 0.4035 0.3458 0.3191 0.32 0.19 0.39 0.24 0.16 rs9891498 COSM3755742 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.988 0.637 D 0.601 0.552 P 0.054 0.227 N 1 0.090 P 2.125 0.592 M 0.29 0.589 T -2.24 0.501 N 0.297 0.628 -0.987 0.333 T 0.000 0.000 T . . . 3.496 0.478 23.1 0.688 0.085 0.070 0.129 N c -0.175 -0.372 0.039 0.144 0.554 0.283 0 2.75 0.313 1.445 0.345 1.199 0.960 0.002 0.151 0.062 0.172 8.95 0.348 . ENSG00000265702.1 Testis 0.3602 0.1714 0.4299 0.3740 0.1968 0.3670 0.3989 0.3707 0.3179 0.3220 0.1858 0.4391 0.3167 0.2270 0.3700 0.3898 0.3819 hom 8435.73 248 17 60814273 . A G 8435.73 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5063;MQ=59.65;MQ0=0;QD=34.02;VQSLOD=7.4179;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8435,674,0 17 61417560 61417560 G T exonic TANC2 nonsynonymous SNV TANC2:NM_025185:exon10:c.G1452T:p.Q484H . . . . . . 8.282e-06 0 0 0 0 1.498e-05 0 0 . . . . . rs772164592 . . . . . . . . . . . . . 0.088 0.327 T 0.074 0.226 B 0.085 0.279 B 0.000 0.452 D 0.985 0.403 D 1.15 0.294 L -0.39 0.692 T -3.08 0.633 D 0.192 0.235 -0.900 0.480 T 0.171 0.513 T 0.010 0.263 T 1.922 0.292 15.72 0.987 0.450 0.855 0.443 D c -0.308 -0.182 0.896 0.259 0.615 0.372 0 1.65 0.229 0.745 0.257 0.953 0.551 1.000 0.715 0.996 0.625 6.912 0.234 . . . 4.063e-06 0 0 0 0 0 8.958e-06 0 0 . . . . . . . . het 2278.45 150 17 61417560 . G T 2278.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.025;DP=150;Dels=0.00;FS=3.953;HRun=0;HaplotypeScore=2.3293;MQ=59.60;MQ0=0;MQRankSum=1.735;QD=15.19;ReadPosRankSum=0.545;VQSLOD=4.0971;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,86:150:99:2308,0,1716 17 61497577 61497577 G A exonic TANC2 nonsynonymous SNV TANC2:NM_025185:exon25:c.G4234A:p.E1412K . . . . . . 0 0 0 0 0 0 0 0 . . . . . rs759788253 . . . . . . . . . . . . . 0.032 0.450 D 0.992 0.629 D 0.905 0.625 P 0.000 0.843 D 1.000 0.497 D 1.895 0.505 L -0.44 0.700 T -1.99 0.459 N 0.778 0.771 -0.430 0.711 T 0.283 0.655 T 0.022 0.454 T 4.801 0.644 24.8 0.999 0.993 0.980 0.790 D c 0.514 0.551 1.000 0.747 0.615 0.372 0 4.39 0.520 9.602 0.976 1.048 0.713 1.000 0.715 0.995 0.604 15.073 0.716 . . . 4.187e-06 0 0 0 0 4.583e-05 0 0 0 . . . . . . . . het 310.11 17 17 61497577 . G A 310.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.759;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=57.39;MQ0=0;MQRankSum=0.754;QD=18.24;ReadPosRankSum=-0.050;VQSLOD=5.5283;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,11:17:99:340,0,113 17 61559923 61559923 C T exonic ACE synonymous SNV ACE:NM_000789:exon8:c.C1215T:p.P405P 0.42 0.11 0.55 0.65 0.39 0.56 0.4492 0.1609 0.6176 0.6439 0.3845 0.4225 0.4325 0.5454 0.34 0.18 0.42 0.3 0.35 rs4309 . . Benign|Benign not_specified|Renal_dysplasia RCV000247405.1|RCV000287918.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0266313:267430:204949001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4562 0.1505 0.5980 0.3509 0.6500 0.3834 0.4277 0.4338 0.5388 0.3703 0.1677 0.5823 0.3311 0.6755 0.3782 0.4387 0.4286 het 1782.70 143 17 61559923 . C T 1782.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.186;DP=143;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=2.9810;MQ=59.22;MQ0=0;MQRankSum=0.123;QD=12.47;ReadPosRankSum=-1.384;VQSLOD=6.3393;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,65:143:99:1813,0,2071 17 61562309 61562309 C T exonic ACE synonymous SNV ACE:NM_001178057:exon1:c.C81T:p.P27P,ACE:NM_152830:exon1:c.C81T:p.P27P 0.52 0.38 0.56 0.67 0.42 0.62 0.5435 0.4418 0.6426 0.6773 0.5124 0.5093 0.5048 0.6081 0.43 0.38 0.45 0.45 . rs4316 COSM3766144;COSM437110 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4935 0.3820 0.5726 0.3708 0.6654 0.4428 0.4567 0.4625 0.5785 0.4592 0.3877 0.5525 0.3633 0.6922 0.4410 0.4759 0.4704 het 159.76 17 17 61562309 . C T 159.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.122;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=57.77;MQ0=0;MQRankSum=0.537;QD=9.40;ReadPosRankSum=-2.293;VQSLOD=4.9514;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,7:17:99:190,0,296 17 61564052 61564052 A G exonic ACE synonymous SNV ACE:NM_001178057:exon3:c.A471G:p.A157A,ACE:NM_152830:exon3:c.A471G:p.A157A,ACE:NM_000789:exon14:c.A2193G:p.A731A 0.53 0.41 0.57 0.67 0.42 0.62 0.4999 0.4167 0.5977 0.6608 0.4421 0.4585 0.4667 0.5916 0.44 0.42 0.45 0.46 0.4 rs4331 COSM5021954;COSM5021955;COSM5021956 1(bone) Benign|Benign not_specified|Renal_dysplasia RCV000252156.1|RCV000321605.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0266313:267430:204949001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.4135 0.5818 0.3637 0.6674 0.4431 0.4634 0.4679 0.5832 0.4663 0.4152 0.5561 0.3633 0.6880 0.4387 0.4755 0.4704 het 1109.80 84 17 61564052 . A G 1109.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.289;DP=84;Dels=0.00;FS=4.669;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;MQRankSum=0.041;QD=13.21;ReadPosRankSum=-0.260;VQSLOD=6.3687;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,42:84:99:1140,0,1050 17 61573761 61573761 T C exonic ACE synonymous SNV ACE:NM_152830:exon12:c.T1665C:p.F555F,ACE:NM_000789:exon23:c.T3387C:p.F1129F 0.59 0.62 0.59 0.61 0.44 0.67 0.5233 0.5838 0.6149 0.6056 0.4535 0.4694 0.4934 0.6257 0.51 0.58 0.47 0.51 0.4 rs4362 . . Benign|Benign not_specified|Renal_dysplasia RCV000243922.1|RCV000342807.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0266313:267430:204949001 Blood metabolite levels . -0.06 24816252 rs4362 1E-21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5204 0.5868 0.5991 0.3719 0.6086 0.4572 0.4745 0.4898 0.6174 0.5158 0.5769 0.5706 0.3808 0.6301 0.4515 0.4838 0.4949 het 2233.91 200 17 61573761 . T C 2233.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.497;DP=200;Dels=0.00;FS=8.139;HRun=0;HaplotypeScore=3.0544;MQ=59.56;MQ0=0;MQRankSum=-1.250;QD=11.17;ReadPosRankSum=-0.844;VQSLOD=4.2515;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,88:200:99:2264,0,3050 17 61623052 61623052 C T exonic KCNH6 nonsynonymous SNV KCNH6:NM_001278919:exon13:c.C2666T:p.T889M,KCNH6:NM_001278920:exon13:c.C2297T:p.T766M,KCNH6:NM_030779:exon14:c.C2774T:p.T925M,KCNH6:NM_173092:exon14:c.C2507T:p.T836M 0.14 0.16 0.11 0.037 0.25 0.13 0.1953 0.1540 0.0956 0.0460 0.2106 0.2453 0.2285 0.1592 0.22 0.16 0.25 0.21 0.26 rs35819807 COSM3755745 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.235 0.180 T 0.007 0.139 B 0.003 0.093 B 0.426 0.047 N 1 0.090 P -0.145 0.044 N -5.58 0.992 D -0.61 0.181 N 0.009 0.012 -0.394 0.722 T 0.001 0.004 T . . . -0.217 0.075 1.011 0.635 0.071 0.029 0.076 N c -1.623 -1.698 0.994 0.334 0.615 0.372 0 -7.62 0.011 0.176 0.165 -2.308 0.003 0.000 0.063 0.000 0.016 6.958 0.236 RmlC-like jelly roll fold ENSG00000108592.12|ENSG00000108592.12|ENSG00000198231.8|ENSG00000108592.12|ENSG00000198231.8|ENSG00000198231.8|ENSG00000198231.8|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000198909.3|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000198231.8|ENSG00000198909.3|ENSG00000108592.12|ENSG00000108592.12|ENSG00000198909.3|ENSG00000108592.12 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid 0.1920 0.1522 0.0949 0.2166 0.0446 0.2171 0.2502 0.2084 0.1600 0.2064 0.1555 0.1229 0.1954 0.0402 0.2169 0.2546 0.2342 het 2039.05 158 17 61623052 . C T 2039.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.037;DP=158;Dels=0.00;FS=0.612;HRun=0;HaplotypeScore=4.6350;MQ=59.37;MQ0=0;MQRankSum=1.375;QD=12.91;ReadPosRankSum=-0.273;VQSLOD=5.4752;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,80:158:99:2069,0,2071 17 61901197 61901197 T A exonic FTSJ3 nonsynonymous SNV FTSJ3:NM_017647:exon13:c.A1270T:p.S424C 0.73 0.96 0.68 0.56 0.6 0.76 0.6580 0.9056 0.6252 0.5814 0.6489 0.6160 0.6377 0.7390 0.7 0.89 0.61 0.73 0.62 rs2727288 COSM4000251 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid) . . . . . . . . . . . 0.056 0.381 T 0.681 0.395 P 0.215 0.358 B 0.002 0.377 N 1 0.090 P 0.55 0.145 N 1.42 0.332 T -2.77 0.587 D 0.061 0.165 -1.032 0.198 T 0.000 0.000 T . . . 2.717 0.388 20.9 0.940 0.234 0.166 0.193 N c -0.379 -0.303 1.000 0.423 0.672 0.522 0 4.68 0.582 0.178 0.165 0.136 0.221 0.001 0.137 0.990 0.544 8.945 0.347 . ENSG00000198231.8|ENSG00000087191.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000240280.2|ENSG00000108592.12|ENSG00000198231.8|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000198909.3|ENSG00000198231.8|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000240280.2|ENSG00000213218.5|ENSG00000108592.12|ENSG00000240280.2|ENSG00000213218.5|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000240280.2|ENSG00000108592.12|ENSG00000108592.12|ENSG00000087191.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000108592.12|ENSG00000087191.8|ENSG00000087191.8|ENSG00000108592.12|ENSG00000198231.8|ENSG00000108592.12|ENSG00000198231.8|ENSG00000087191.8|ENSG00000108592.12|ENSG00000198231.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000087191.8|ENSG00000108592.12|ENSG00000087191.8|ENSG00000108592.12|ENSG00000108592.12|ENSG00000087191.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000198231.8|ENSG00000108592.12|ENSG00000198231.8|ENSG00000087191.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000108592.12|ENSG00000087191.8|ENSG00000108592.12|ENSG00000136490.4|ENSG00000198231.8|ENSG00000108592.12|ENSG00000108592.12|ENSG00000240280.2|ENSG00000108592.12|ENSG00000198231.8|ENSG00000198231.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000198231.8|ENSG00000240280.2|ENSG00000213218.5|ENSG00000108592.12|ENSG00000198231.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000198231.8|ENSG00000108592.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.6478 0.9124 0.6250 0.5210 0.5748 0.6517 0.6164 0.6310 0.7368 0.6941 0.8999 0.6193 0.5232 0.5676 0.6309 0.6131 0.6493 hom 5950.80 195 17 61901197 . T A 5950.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.411;DP=195;DS;Dels=0.00;FS=4.095;HRun=0;HaplotypeScore=4.6470;MQ=59.01;MQ0=0;MQRankSum=-0.589;QD=30.52;ReadPosRankSum=-1.268;VQSLOD=3.6468;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,193:195:99:5912,456,0 17 61903445 61903445 G C exonic FTSJ3 nonsynonymous SNV FTSJ3:NM_017647:exon5:c.C271G:p.Q91E 0.73 0.98 0.68 0.56 0.6 0.76 0.6597 0.9249 0.6265 0.5808 0.6491 0.6160 0.6388 0.7392 0.71 0.91 0.61 0.74 0.62 rs2584625 COSM4000253 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.204 P -1.24 0.008 N 1.61 0.284 T 1.49 0.007 N 0.068 0.225 -0.955 0.402 T 0.000 0.000 T . . . 0.401 0.133 6.619 0.947 0.248 0.107 0.160 N c -0.755 -0.441 1.000 0.747 0.543 0.218 0 4.74 0.596 5.163 0.646 0.067 0.174 1.000 0.715 0.998 0.697 13.178 0.589 Ribosomal RNA methyltransferase FtsJ domain|S-adenosyl-L-methionine-dependent methyltransferase ENSG00000198231.8|ENSG00000087191.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000240280.2|ENSG00000108592.12|ENSG00000198231.8|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000198909.3|ENSG00000198231.8|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000240280.2|ENSG00000213218.5|ENSG00000108592.12|ENSG00000240280.2|ENSG00000213218.5|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000240280.2|ENSG00000108592.12|ENSG00000108592.12|ENSG00000087191.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000108592.12|ENSG00000087191.8|ENSG00000087191.8|ENSG00000108592.12|ENSG00000198231.8|ENSG00000108592.12|ENSG00000198231.8|ENSG00000087191.8|ENSG00000108592.12|ENSG00000198231.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000087191.8|ENSG00000108592.12|ENSG00000087191.8|ENSG00000108592.12|ENSG00000108592.12|ENSG00000087191.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000198231.8|ENSG00000108592.12|ENSG00000198231.8|ENSG00000087191.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000108592.12|ENSG00000087191.8|ENSG00000108592.12|ENSG00000136490.4|ENSG00000198231.8|ENSG00000108592.12|ENSG00000108592.12|ENSG00000240280.2|ENSG00000108592.12|ENSG00000198231.8|ENSG00000198231.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000198231.8|ENSG00000240280.2|ENSG00000213218.5|ENSG00000108592.12|ENSG00000198231.8|ENSG00000240280.2|ENSG00000108592.12|ENSG00000108592.12|ENSG00000108592.12|ENSG00000198231.8|ENSG00000108592.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.6492 0.9307 0.6265 0.5205 0.5742 0.6517 0.6164 0.6318 0.7370 0.6995 0.9187 0.6208 0.5267 0.5651 0.6311 0.6132 0.6503 hom 6538.62 202 17 61903445 . G C 6538.62 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2071;MQ=58.81;MQ0=0;QD=32.37;VQSLOD=8.6663;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:6538,512,0 17 61908271 61908271 C T exonic PSMC5 synonymous SNV PSMC5:NM_001199163:exon7:c.C631T:p.L211L,PSMC5:NM_002805:exon7:c.C655T:p.L219L 0.73 0.98 0.68 0.56 0.6 0.76 0.6598 0.9245 0.6263 0.5813 0.6494 0.6160 0.6377 0.7396 0.71 0.91 0.61 0.74 0.62 rs968719 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6492 0.9305 0.6263 0.5209 0.5749 0.6518 0.6164 0.6317 0.7372 0.7003 0.9193 0.6217 0.5232 0.5671 0.6309 0.6139 0.6499 hom 2982.92 95 17 61908271 . C T 2982.92 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4725;MQ=59.41;MQ0=0;QD=31.40;VQSLOD=9.5410;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3016,241,0 17 61908556 61908556 C T exonic PSMC5 synonymous SNV PSMC5:NM_001199163:exon8:c.C816T:p.L272L,PSMC5:NM_002805:exon8:c.C840T:p.L280L 0.4 0.19 0.45 0.51 0.33 0.6 0.3761 0.2132 0.4048 0.5320 0.4339 0.3360 0.3642 0.5819 0.28 0.21 0.32 0.34 0.32 rs13030 COSM3755748 1(bone);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3813 0.2115 0.4068 0.2393 0.5275 0.4314 0.3307 0.3826 0.5603 0.3182 0.2096 0.3889 0.2367 0.5119 0.4141 0.3324 0.3719 hom 8438.62 248 17 61908556 . C T 8438.62 Mask AC=2;AF=1.00;AN=2;DP=248;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.1147;MQ=59.38;MQ0=0;QD=34.03;VQSLOD=3.5493;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8438,674,0 17 62041068 62041068 T C exonic SCN4A nonsynonymous SNV SCN4A:NM_000334:exon10:c.A1570G:p.S524G 0.94 0.9 0.96 1. 0.91 0.97 0.9288 0.9060 0.9677 0.9994 0.8771 0.9127 0.9289 0.9627 0.92 0.91 0.92 0.92 . rs6504191 COSM4130494 1(thyroid) Benign|Benign|Benign|Benign|Benign|Benign not_specified|Hyperkalemic_Periodic_Paralysis|Hypokalemic_periodic_paralysis|Paramyotonia_congenita_of_von_Eulenburg|Congenital_Myasthenic_Syndrome\x2c_Recessive|Potassium_aggravated_myotonia RCV000118264.6|RCV000279460.1|RCV000294720.1|RCV000336656.1|RCV000351978.1|RCV000400214.1 MedGen|MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet CN169374|CN239391|C0238358:ORPHA681|C1868617:168300:ORPHA684|CN239337|C0752355:608390:ORPHA99734 . . . . . . 0.368 0.116 T 0.0 0.026 B 0.0 0.013 B 0.492 0.050 N 1.000 0.090 P 1.04 0.263 L -3.91 0.961 D -0.54 0.166 N 0.026 0.040 -0.934 0.436 T 0.000 0.000 T . . . -0.892 0.036 0.027 0.464 0.037 0.474 0.277 N c -1.177 -1.079 0.397 0.201 0.428 0.059 0 1.63 0.228 0.211 0.171 -2.468 0.003 0.007 0.175 0.004 0.083 7.126 0.245 . . . 0.9302 0.9030 0.9639 0.9677 0.9996 0.8728 0.9117 0.9291 0.9618 0.9131 0.9060 0.9511 0.9636 0.9994 0.8702 0.9141 0.9246 het 288.71 35 17 62041068 . T C 288.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.965;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.206;QD=8.25;ReadPosRankSum=1.441;VQSLOD=10.7338;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,14:35:99:319,0,647 17 62121480 62121480 T C exonic ERN1 synonymous SNV ERN1:NM_001433:exon22:c.A2802G:p.T934T 0.58 0.22 0.6 0.68 0.75 0.78 0.6968 0.2861 0.6265 0.6550 0.7478 0.7543 0.7038 0.7576 0.62 0.32 0.76 0.52 . rs196912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6959 0.2770 0.6347 0.5855 0.6524 0.7485 0.7604 0.7034 0.7566 0.6199 0.2910 0.6663 0.5298 0.6295 0.7567 0.7693 0.7464 het 572.69 56 17 62121480 . T C 572.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.000;DP=56;Dels=0.00;FS=4.364;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.154;QD=10.23;ReadPosRankSum=0.841;VQSLOD=5.6463;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,25:56:99:603,0,803 17 62125272 62125272 A G exonic ERN1 synonymous SNV ERN1:NM_001433:exon19:c.T2475C:p.H825H 0.95 0.83 0.98 1. 1. 1. 0.9873 0.8554 0.9922 1 1 0.9998 0.9944 0.9996 0.96 0.87 1. 0.92 . rs196923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9897 0.8563 0.9915 1 1 1 0.9998 0.9958 0.9997 0.9619 0.8674 0.9881 1 1 1 0.9997 0.9929 hom 2850.61 101 17 62125272 . A G 2850.61 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=28.22;VQSLOD=8.6864;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:2884,223,0 17 62141455 62141455 A G exonic ERN1 synonymous SNV ERN1:NM_001433:exon10:c.T978C:p.I326I 0.95 0.83 0.98 1. 1. 1. 0.9882 0.8596 0.9925 0.9999 1 0.9998 0.9943 0.9997 0.96 0.87 1. 0.92 . rs187826 COSM4130500;COSM4130501 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9900 0.8572 0.9918 1 0.9999 1 0.9998 0.9958 0.9997 0.9623 0.8684 0.9905 1 1 1 0.9997 0.9929 hom 1142.25 35 17 62141455 . A G 1142.25 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.64;VQSLOD=13.4484;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:96.29:1175,96,0 17 63554591 63554591 G A exonic AXIN2 nonsynonymous SNV AXIN2:NM_004655:exon2:c.C148T:p.P50S 0.34 0.067 0.52 0.32 0.47 0.46 0.4737 0.1190 0.5614 0.3220 0.4998 0.5284 0.4650 0.4857 0.39 0.14 0.53 0.27 0.52 rs2240308 COSM4000258 1(haematopoietic_and_lymphoid_tissue);1(pancreas) Benign|Benign not_specified|Oligodontia-colorectal_cancer_syndrome RCV000245378.1|RCV000291911.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1837750:608615:ORPHA300576 . . . . . . 0.366 0.120 T 0.0 0.026 B 0.0 0.013 B 0.209 0.164 N 0.001 0.463 P . . . -0.05 0.764 T -1.01 0.340 N 0.009 0.024 -0.975 0.362 T 0.000 0.000 T . . . -0.922 0.035 0.023 0.679 0.082 0.788 0.387 D c -0.604 -0.516 1.000 0.747 0.695 0.562 0 2.75 0.313 1.136 0.309 0.951 0.538 0.996 0.391 0.062 0.172 7.627 0.272 Axin-1/2\x2c tankyrase binding domain . . 0.4757 0.1112 0.5482 0.4744 0.3237 0.5012 0.5252 0.4776 0.4687 0.4049 0.1314 0.5468 0.4934 0.3360 0.5069 0.5315 0.5103 het 1464.64 117 17 63554591 . G A 1464.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.920;DP=117;Dels=0.00;FS=1.501;HRun=0;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;MQRankSum=1.018;QD=12.52;ReadPosRankSum=0.156;VQSLOD=6.5801;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,56:117:99:1495,0,1726 17 63822357 63822357 T C exonic CEP112 nonsynonymous SNV CEP112:NM_001037325:exon1:c.A61G:p.I21V 0.21 0.24 0.23 0.12 0.22 0.26 0.2262 0.2413 0.2068 0.1271 0.1491 0.2406 0.2137 0.2556 0.24 0.24 0.24 0.21 0.33 rs62065084 COSM3755755 1(large_intestine) . . . . . . . . . . . 0.177 0.222 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P . . . . . . 0.01 0.069 N 0.014 0.002 -0.989 0.330 T 0.000 0.000 T . . . 0.125 0.106 3.880 0.739 0.102 0.015 0.049 N c -1.070 -1.175 0.112 0.167 0.487 0.133 0 -0.831 0.102 -0.264 0.086 0.888 0.391 0.000 0.063 0.008 0.104 4.325 0.104 Domain of unknown function DUF4485 . . 0.2225 0.2366 0.2045 0.2557 0.1249 0.1455 0.2436 0.2218 0.2581 0.2232 0.2416 0.2022 0.2483 0.1377 0.1537 0.2396 0.2098 het 4276.36 250 17 63822357 . T C 4276.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.278;DP=250;DS;Dels=0.00;FS=0.473;HRun=1;HaplotypeScore=3.4634;MQ=58.60;MQ0=0;MQRankSum=2.184;QD=17.11;ReadPosRankSum=-0.258;VQSLOD=4.2104;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3616,0,3367 17 64023624 64023624 T C exonic CEP112 nonsynonymous SNV CEP112:NM_001302891:exon14:c.A1525G:p.K509E,CEP112:NM_001199165:exon16:c.A1651G:p.K551E 0.38 0.6 0.32 0.091 0.52 0.28 0.5356 0.6459 0.4754 0.2150 0.6804 0.6206 0.5167 0.2971 0.57 0.59 0.56 0.46 0.11 rs17704679 . . . . . . . . . . . . . 0.094 0.334 T 0.003 0.102 B 0.007 0.121 B 0.002 0.373 N 0.925 0.291 P 1.295 0.326 L 2.07 0.204 T -1.39 0.344 N 0.211 0.314 -0.963 0.386 T 0.000 0.000 T . . . 2.630 0.377 20.4 0.998 0.847 0.946 0.613 D c -0.296 -0.127 0.001 0.084 0.638 0.428 0 3.27 0.364 2.736 0.468 0.964 0.580 0.996 0.391 1.000 0.888 9.033 0.352 . . . 0.4698 0.6050 0.2847 0.4685 0.1063 0.5909 0.5607 0.4698 0.2704 0.5350 0.5889 0.2794 0.4430 0.1167 0.5797 0.5558 0.5164 het 267.44 29 17 64023624 . T C 267.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.326;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.39;MQ0=0;MQRankSum=-0.921;QD=9.22;ReadPosRankSum=1.011;VQSLOD=5.4982;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,11:29:99:297,0,395 17 64023642 64023642 A G exonic CEP112 synonymous SNV CEP112:NM_001302891:exon14:c.T1507C:p.L503L,CEP112:NM_001199165:exon16:c.T1633C:p.L545L 0.54 0.23 0.66 0.87 0.44 0.61 0.5026 0.2778 0.7359 0.8612 0.3961 0.4384 0.5 0.6144 0.34 0.25 0.39 0.43 0.041 rs11079628 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4660 0.2247 0.6965 0.4895 0.8619 0.3720 0.3911 0.4883 0.6025 0.3935 0.2635 0.6947 0.5066 0.8574 0.3818 0.3999 0.4369 het 394.17 34 17 64023642 . A G 394.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.847;DP=34;Dels=0.00;FS=2.928;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=-0.466;QD=11.59;ReadPosRankSum=0.949;VQSLOD=5.7499;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,18:34:99:424,0,377 17 64025331 64025331 A G exonic CEP112 synonymous SNV CEP112:NM_001302891:exon12:c.T1287C:p.N429N,CEP112:NM_001199165:exon14:c.T1413C:p.N471N 0.38 0.6 0.32 0.09 0.52 0.28 0.4510 0.5897 0.2226 0.1016 0.5781 0.5453 0.4713 0.2730 0.56 0.58 0.55 0.46 0.52 rs11652766 COSM4416094;COSM4416093 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4409 0.5960 0.2401 0.4664 0.1018 0.5813 0.5480 0.4653 0.2705 0.5347 0.5888 0.2782 0.4437 0.1171 0.5795 0.5555 0.5143 het 1037.85 107 17 64025331 . A G 1037.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.524;DP=107;Dels=0.00;FS=0.768;HRun=0;HaplotypeScore=1.8100;MQ=57.90;MQ0=0;MQRankSum=2.704;QD=9.70;ReadPosRankSum=0.066;VQSLOD=4.4917;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,45:107:99:1068,0,1625 17 64208285 64208285 C G exonic APOH nonsynonymous SNV APOH:NM_000042:exon8:c.G1004C:p.W335S 0.036 0.0023 0.029 0.055 0.057 0.049 0.0488 0.0077 0.0185 0.0692 0.0723 0.0555 0.0628 0.0479 0.037 0.0086 0.051 0.043 0.074 rs1801690 COSM3755757 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.022 0.486 D 0.999 0.764 D 0.954 0.677 D 0.010 0.300 N 0.000 0.588 P 2.52 0.738 M 1.96 0.223 T -3.7 0.705 D 0.379 0.439 -1.109 0.031 T 0.013 0.049 T . . . 4.740 0.636 24.7 0.988 0.453 0.828 0.417 D c 0.577 0.559 0.997 0.350 0.516 0.203 0 5.7 0.886 3.842 0.553 0.852 0.362 1.000 0.715 0.998 0.697 15.345 0.739 Beta-2-glycoprotein-1 fifth domain|Sushi/SCR/CCP domain . . 0.0478 0.0080 0.0184 0.0321 0.0672 0.0750 0.0552 0.0514 0.0472 0.0468 0.0091 0.0191 0.0464 0.0722 0.0757 0.0588 0.0777 het 581.42 54 17 64208285 . C G 581.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.423;DP=54;Dels=0.00;FS=15.480;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=0.199;QD=10.77;ReadPosRankSum=-0.303;VQSLOD=3.6085;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,26:54:99:611,0,705 17 64210757 64210757 C A exonic APOH nonsynonymous SNV APOH:NM_000042:exon7:c.G796T:p.V266L 0.54 0.55 0.54 0.75 0.23 0.64 0.3738 0.5204 0.5747 0.7668 0.2520 0.2330 0.3227 0.5560 0.33 0.51 0.24 0.55 0.3 rs4581 . . Benign APOH_POLYMORPHISM RCV000017417.2 . . . . . . . . 0.668 0.046 T 0.0 0.026 B 0.001 0.040 B 0.016 0.281 N 1 0.090 P -0.585 0.023 N 1.65 0.276 T -0.5 0.158 N 0.033 0.013 -0.992 0.322 T 0.000 0.000 T . . . 0.178 0.111 4.444 0.840 0.145 0.047 0.102 N c -1.330 -1.271 0.196 0.181 0.487 0.133 0 -4.53 0.032 -0.214 0.092 -0.270 0.086 0.773 0.291 0.800 0.336 2.367 0.040 Beta-2-glycoprotein-1 fifth domain|Sushi/SCR/CCP domain . . 0.3744 0.5231 0.5538 0.2462 0.7710 0.2502 0.2307 0.3242 0.5483 0.3507 0.5102 0.5155 0.2517 0.7515 0.2473 0.2347 0.3016 het 1897.20 143 17 64210757 . C A 1897.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.358;DP=143;Dels=0.00;FS=1.390;HRun=1;HaplotypeScore=1.8646;MQ=58.24;MQ0=0;MQRankSum=0.592;QD=13.27;ReadPosRankSum=1.613;VQSLOD=5.4824;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,73:143:99:1927,0,1704 17 64216815 64216815 C T exonic APOH nonsynonymous SNV APOH:NM_000042:exon5:c.G461A:p.R154H 0.07 0.12 0.042 0.052 0.07 0.05 0.0658 0.0944 0.0291 0.0623 0.0945 0.0688 0.0815 0.0509 0.074 0.09 0.065 0.076 0.066 rs8178847 COSM4415847 3(haematopoietic_and_lymphoid_tissue);1(soft_tissue) . . . . . . . . . . . 0.234 0.180 T 0.728 0.406 P 0.064 0.257 B 0.436 0.047 N 1 0.090 P -0.2 0.042 N -0.04 0.633 T -0.61 0.181 N 0.315 0.376 -1.108 0.032 T 0.001 0.004 T . . . 0.645 0.156 8.461 0.567 0.055 0.048 0.103 N c -0.905 -0.931 0.006 0.111 0.487 0.133 0 1.59 0.225 0.080 0.145 -0.304 0.080 0.000 0.063 0.013 0.120 4.860 0.128 Sushi/SCR/CCP domain . . 0.0639 0.0992 0.0287 0.0659 0.0619 0.0971 0.0666 0.0682 0.0509 0.0783 0.0952 0.0274 0.0927 0.0695 0.0956 0.0673 0.0871 het 1878.46 166 17 64216815 . C T 1878.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.780;DP=166;Dels=0.00;FS=4.950;HRun=0;HaplotypeScore=8.4373;MQ=57.97;MQ0=0;MQRankSum=1.457;QD=11.32;ReadPosRankSum=0.039;VQSLOD=4.0624;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:91,75:166:99:1908,0,2042 17 64216854 64216854 A G exonic APOH nonsynonymous SNV APOH:NM_000042:exon5:c.T422C:p.I141T 0.07 0.12 0.042 0.052 0.07 0.05 0.0660 0.0950 0.0291 0.0625 0.0945 0.0689 0.0820 0.0514 0.074 0.09 0.065 0.076 0.057 rs52797880 COSM4416049 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.460 N 1 0.090 P -1.9 0.002 N 1.94 0.229 T 2.68 0.002 N 0.299 0.359 -0.984 0.341 T 0.000 0.000 T . . . -1.470 0.018 0.003 0.587 0.059 0.022 0.063 N c -1.252 -1.052 0.019 0.131 0.487 0.133 0 3.37 0.375 2.317 0.432 0.131 0.216 1.000 0.715 0.598 0.288 5.933 0.183 Sushi/SCR/CCP domain . . 0.0641 0.0991 0.0289 0.0665 0.0620 0.0971 0.0667 0.0683 0.0513 0.0780 0.0953 0.0274 0.0927 0.0697 0.0948 0.0668 0.0879 het 1543.52 112 17 64216854 . A G 1543.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.239;DP=112;Dels=0.00;FS=5.030;HRun=1;HaplotypeScore=9.1306;MQ=58.33;MQ0=0;MQRankSum=0.728;QD=13.78;ReadPosRankSum=1.566;VQSLOD=3.6411;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1574,0,1398 17 64685078 64685078 G A exonic PRKCA synonymous SNV PRKCA:NM_002737:exon8:c.G831A:p.L277L 0.23 0.091 0.35 0.11 0.37 0.32 0.3227 0.1296 0.3181 0.1161 0.3630 0.3631 0.3417 0.3709 0.29 0.14 0.37 0.17 0.29 rs2227857 COSM3755758 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3175 0.1130 0.2970 0.4186 0.1077 0.3633 0.3554 0.3381 0.3521 0.2735 0.1188 0.2962 0.3907 0.0957 0.3775 0.3507 0.3378 hom 1936.87 65 17 64685078 . G A 1936.87 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=29.80;VQSLOD=8.8072;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1970,159,0 17 64783081 64783081 G A exonic PRKCA nonsynonymous SNV PRKCA:NM_002737:exon15:c.G1702A:p.V568I 0.99 1. 0.99 1. 0.98 0.99 0.9799 0.9948 0.9952 0.9999 0.9621 0.9712 0.9812 0.9916 0.98 0.99 0.97 1. 0.99 rs6504459 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.997 0.229 P -0.205 0.041 N 0.57 0.544 T 0.71 0.021 N 0.063 0.179 -0.919 0.457 T 0.000 0.000 T . . . 2.037 0.306 16.45 0.861 0.158 0.247 0.223 N c -0.497 -0.224 1.000 0.747 0.732 0.924 0 5.68 0.880 7.067 0.763 0.244 0.267 1.000 0.715 0.975 0.474 11.768 0.510 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain . . 0.9800 0.9952 0.9936 0.9829 1 0.9618 0.9707 0.9829 0.9921 0.9762 0.9953 0.9869 0.9801 0.9994 0.9619 0.9655 0.9735 hom 4254.34 133 17 64783081 . G A 4254.34 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6498;MQ=59.69;MQ0=0;QD=31.99;VQSLOD=9.1433;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4254,349,0 17 65104743 65104743 G A exonic HELZ nonsynonymous SNV HELZ:NM_001330447:exon30:c.C4592T:p.A1531V,HELZ:NM_014877:exon30:c.C4589T:p.A1530V 0.98 1. 0.94 1. 0.93 1. 0.9538 0.9896 0.9627 1 0.9673 0.9315 0.9579 0.9866 0.95 0.99 0.93 0.85 0.89 rs11653020 COSM4130516 1(thyroid) . . . . . . . . . . . 0.447 0.091 T 0.0 0.026 B 0.0 0.013 B 0.012 0.292 N 1 0.090 P -0.345 0.033 N -1.48 0.812 T 0.3 0.041 N 0.014 0.025 -0.974 0.363 T 0.000 0.000 T . . . 1.103 0.200 11.23 0.770 0.113 0.044 0.099 N c -0.808 -0.707 1.000 0.747 0.707 0.730 0 4.19 0.485 4.776 0.618 0.236 0.261 0.998 0.411 0.041 0.157 9.775 0.396 . . . 0.9539 0.9905 0.9620 0.9272 0.9999 0.9652 0.9309 0.9418 0.9869 0.9556 0.9874 0.9523 0.9536 0.9994 0.9608 0.9319 0.9479 het 1834.46 143 17 65104743 . G A 1834.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.156;DP=143;Dels=0.00;FS=0.622;HRun=1;HaplotypeScore=2.5315;MQ=59.06;MQ0=0;MQRankSum=0.592;QD=12.83;ReadPosRankSum=1.797;VQSLOD=6.2301;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,68:143:99:1864,0,2038 17 65105257 65105257 C T exonic HELZ synonymous SNV HELZ:NM_001330447:exon29:c.G4467A:p.S1489S,HELZ:NM_014877:exon29:c.G4464A:p.S1488S 0.01 0.0015 0.019 . 0.035 . 0.0238 0.0050 0.0137 0.0003 0.0296 0.0357 0.0191 0.0026 0.023 0.0076 0.03 . 0.049 rs117043746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0234 0.0047 0.0141 0.0252 0.0002 0.0316 0.0362 0.0264 0.0025 0.0277 0.0064 0.0191 0.0066 0 0.0355 0.0415 0.0377 het 971.10 96 17 65105257 . C T 971.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.114;DP=96;Dels=0.00;FS=0.817;HRun=0;HaplotypeScore=1.7998;MQ=59.37;MQ0=0;MQRankSum=-1.195;QD=10.12;ReadPosRankSum=1.157;VQSLOD=5.7319;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,40:96:99:1001,0,1451 17 65362552 65362552 T A exonic PSMD12 synonymous SNV PSMD12:NM_002816:exon1:c.A84T:p.L28L,PSMD12:NM_174871:exon1:c.A84T:p.L28L 0.22 0.26 0.19 0.17 0.26 0.18 0.2298 0.2802 0.1532 0.1642 0.2146 0.2566 0.2585 0.1856 0.25 0.27 0.24 0.22 0.25 rs11079691 COSM437192 1(breast);1(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2175 0.2703 0.1553 0.2837 0.1542 0.1963 0.2465 0.2448 0.1804 0.2415 0.2718 0.1890 0.2583 0.1516 0.2050 0.2447 0.2424 het 410.78 58 17 65362552 . T A 410.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.656;DP=58;Dels=0.00;FS=1.118;HRun=1;HaplotypeScore=1.9928;MQ=59.68;MQ0=0;MQRankSum=0.311;QD=7.08;ReadPosRankSum=1.134;VQSLOD=4.9779;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,18:58:99:441,0,1032 17 65739627 65739627 A G exonic NOL11 synonymous SNV NOL11:NM_001303272:exon16:c.A1422G:p.A474A,NOL11:NM_015462:exon17:c.A1968G:p.A656A 0.49 0.36 0.62 0.51 0.52 0.5 0.5316 0.4050 0.6923 0.4596 0.5225 0.5376 0.5529 0.5141 0.5 0.41 0.55 0.41 0.53 rs10127 COSM3755767 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5385 0.3977 0.6860 0.5198 0.4658 0.5200 0.5381 0.5423 0.5120 0.5010 0.4112 0.6379 0.5833 0.4732 0.5138 0.5424 0.5276 het 1818.35 156 17 65739627 . A G 1818.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.028;DP=156;Dels=0.00;FS=0.605;HRun=0;HaplotypeScore=6.0413;MQ=59.57;MQ0=0;MQRankSum=0.902;QD=11.66;ReadPosRankSum=0.121;VQSLOD=4.2775;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,83:156:99:1848,0,1730 17 65989048 65989048 T C exonic C17orf58 nonsynonymous SNV C17orf58:NM_181656:exon2:c.A215G:p.E72G 0.92 0.71 0.99 1. 1. 1. 0.9781 0.7483 0.9891 1 1 0.9994 0.9900 0.9993 0.93 0.77 1. 0.89 0.99 rs28368756 . . . . . . . . . . . . . 0.403 0.104 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 D 1 0.090 P . . . . . . 0.26 0.044 N 0.009 0.001 -1.070 0.094 T 0.000 0.000 T . . . 0.198 0.113 4.657 0.416 0.030 0.005 0.024 N c -1.228 -1.345 1.000 0.747 0.442 0.072 0 -1.04 0.095 -1.156 0.032 -1.329 0.013 0.000 0.063 0.000 0.016 3.765 0.081 Tissue inhibitor of metalloproteinases-like\x2c OB-fold . . 0.9817 0.7405 0.9884 1 1 1 0.9993 0.9916 0.9993 0.9248 0.7367 0.9940 1 1 1 0.9991 0.9857 hom 1475.63 49 17 65989048 . T C 1475.63 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.520;DP=49;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6865;MQ=59.04;MQ0=0;MQRankSum=0.742;QD=30.11;ReadPosRankSum=-1.520;VQSLOD=8.3857;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,48:49:99:1509,104,0 17 66246416 66246416 A G exonic AMZ2 nonsynonymous SNV AMZ2:NM_001033574:exon2:c.A88G:p.N30D,AMZ2:NM_001346471:exon2:c.A88G:p.N30D,AMZ2:NM_001346480:exon2:c.A88G:p.N30D,AMZ2:NM_016627:exon2:c.A88G:p.N30D,AMZ2:NM_001033569:exon3:c.A88G:p.N30D,AMZ2:NM_001033570:exon3:c.A88G:p.N30D,AMZ2:NM_001033571:exon3:c.A88G:p.N30D,AMZ2:NM_001033572:exon3:c.A88G:p.N30D,AMZ2:NM_001289054:exon3:c.A88G:p.N30D,AMZ2:NM_001289056:exon3:c.A88G:p.N30D,AMZ2:NM_001346472:exon3:c.A88G:p.N30D,AMZ2:NM_001346473:exon3:c.A88G:p.N30D,AMZ2:NM_001346474:exon3:c.A88G:p.N30D,AMZ2:NM_001346475:exon3:c.A88G:p.N30D,AMZ2:NM_001346476:exon3:c.A88G:p.N30D,AMZ2:NM_001346477:exon3:c.A88G:p.N30D,AMZ2:NM_001346478:exon3:c.A88G:p.N30D,AMZ2:NM_001346479:exon3:c.A88G:p.N30D 0.8 0.97 0.82 0.76 0.64 0.75 0.7180 0.9342 0.8524 0.7766 0.5735 0.6624 0.7081 0.7402 0.76 0.92 0.67 0.74 0.66 rs3213690 COSM4000271;COSM4000272 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.036 T 0.0 0.026 B 0.0 0.013 B 0.032 0.250 N 1 0.090 P -2.52 0.001 N 2.42 0.154 T 1.33 0.011 N 0.001 0.059 -1.015 0.255 T 0.000 0.000 T . . . -0.818 0.039 0.039 0.941 0.237 0.006 0.026 N c -1.574 -1.436 0.996 0.347 0.722 0.854 0 1.32 0.208 0.851 0.272 -0.010 0.132 0.003 0.159 0.996 0.625 5.371 0.153 . ENSG00000196704.7|ENSG00000141337.8|ENSG00000196704.7|ENSG00000141337.8 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Pancreas|Pancreas 0.7165 0.9371 0.8424 0.6773 0.7790 0.5769 0.6644 0.7051 0.7395 0.7398 0.9230 0.8189 0.6821 0.7906 0.5835 0.6639 0.6912 het 2657.39 189 17 66246416 . A G 2657.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.418;DP=189;Dels=0.00;FS=1.138;HRun=0;HaplotypeScore=4.9853;MQ=59.07;MQ0=0;MQRankSum=1.025;QD=14.06;ReadPosRankSum=1.161;VQSLOD=5.5065;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,104:189:99:2687,0,2182 17 66364691 66364691 C G exonic ARSG nonsynonymous SNV ARSG:NM_001267727:exon7:c.C707G:p.T236S,ARSG:NM_014960:exon7:c.C707G:p.T236S 0.28 0.19 0.39 0.13 0.41 0.33 0.3784 0.2130 0.4122 0.1310 0.4446 0.4278 0.3675 0.3617 0.37 0.22 0.44 0.28 0.34 rs1558876 COSM3755773 1(breast);12(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . 0.026 0.181 B 0.023 0.188 B 0.372 0.135 N 0.994 0.236 P 0.25 0.098 N -3.17 0.931 D . . . 0.034 0.103 -0.972 0.368 T 0.000 0.000 T . . . 0.838 0.174 9.695 0.679 0.082 0.273 0.230 N c -0.378 -0.247 1.000 0.747 0.615 0.372 0 4.24 0.493 2.031 0.405 0.935 0.490 0.365 0.257 0.789 0.333 13.000 0.579 Alkaline phosphatase-like\x2c alpha/beta/alpha|Alkaline-phosphatase-like\x2c core domain|Sulfatase\x2c N-terminal . . 0.3844 0.2076 0.4089 0.4022 0.1303 0.4579 0.4295 0.4009 0.3639 0.3643 0.2217 0.4045 0.4139 0.1219 0.4498 0.4465 0.4199 hom 2494.30 81 17 66364691 . C G 2494.30 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.706;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.48;MQ0=0;MQRankSum=1.304;QD=30.79;ReadPosRankSum=1.176;VQSLOD=8.8000;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,80:81:99:2527,162,0 17 66364749 66364749 T C exonic ARSG synonymous SNV ARSG:NM_001267727:exon7:c.T765C:p.P255P,ARSG:NM_014960:exon7:c.T765C:p.P255P 0.51 0.66 0.62 0.27 0.51 0.49 0.5229 0.6396 0.6694 0.2867 0.4897 0.5189 0.4912 0.5014 0.56 0.64 0.52 0.55 0.43 rs1558877 COSM4419284 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5257 0.6428 0.6564 0.5096 0.2859 0.5007 0.5206 0.5207 0.5026 0.5437 0.6330 0.6319 0.5132 0.2739 0.4926 0.5296 0.5257 hom 4006.37 127 17 66364749 . T C 4006.37 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.405;DP=127;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5313;MQ=59.33;MQ0=0;MQRankSum=0.691;QD=31.55;ReadPosRankSum=-1.627;VQSLOD=8.8032;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:3,124:127:99:3921,253,0 17 66364804 66364804 T C exonic ARSG nonsynonymous SNV ARSG:NM_001267727:exon7:c.T820C:p.W274R,ARSG:NM_014960:exon7:c.T820C:p.W274R 0.36 0.32 0.44 0.24 0.48 0.36 0.4439 0.3318 0.4527 0.2435 0.4874 0.4914 0.4372 0.4041 0.45 0.35 0.5 0.36 0.41 rs1558878 COSM4418882 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.489 0.121 N 1 0.090 P -1.295 0.007 N -4.87 0.983 D . . . 0.035 0.025 -0.914 0.464 T 0.000 0.000 T . . . -0.551 0.053 0.165 0.463 0.037 0.017 0.054 N c -1.162 -0.998 1.000 0.747 0.638 0.428 0 4.28 0.500 0.255 0.180 0.069 0.176 0.014 0.188 0.006 0.095 5.011 0.136 Alkaline phosphatase-like\x2c alpha/beta/alpha|Alkaline-phosphatase-like\x2c core domain|Sulfatase\x2c N-terminal . . 0.4468 0.3304 0.4480 0.4715 0.2400 0.4962 0.4923 0.4613 0.4078 0.4366 0.3322 0.4412 0.4767 0.2337 0.4868 0.5045 0.4684 hom 5222.60 171 17 66364804 . T C 5222.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.253;DP=171;Dels=0.00;FS=3.839;HRun=1;HaplotypeScore=2.7599;MQ=59.65;MQ0=0;MQRankSum=1.286;QD=30.54;ReadPosRankSum=-1.307;VQSLOD=4.1126;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,170:171:99:5184,374,0 17 66449122 66449122 G A exonic WIPI1 nonsynonymous SNV WIPI1:NM_017983:exon2:c.C92T:p.T31I 0.74 0.85 0.69 0.53 0.76 0.79 0.7469 0.8411 0.6101 0.5190 0.7558 0.7750 0.7467 0.7854 0.79 0.83 0.77 0.7 0.84 rs883541 . . . . . . . . . . . . . 0.227 0.185 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.810 P -2.085 0.002 N 0.37 0.577 T 3.09 0.001 N 0.114 0.124 -0.977 0.357 T 0.000 0.000 T . . . 1.955 0.296 15.93 0.942 0.239 0.125 0.171 N c -0.633 -0.341 1.000 0.747 0.706 0.609 0 5.02 0.666 6.407 0.730 0.240 0.266 1.000 0.715 0.998 0.697 8.224 0.305 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000108946.10|ENSG00000108946.10|ENSG00000267009.2|ENSG00000070540.8 Artery_Aorta|Artery_Tibial|Artery_Tibial|Muscle_Skeletal 0.7387 0.8478 0.6228 0.7703 0.5147 0.7560 0.7740 0.7535 0.7830 0.7789 0.8485 0.6583 0.7682 0.5323 0.7516 0.7801 0.7525 het 1060.10 100 17 66449122 . G A 1060.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.862;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9467;MQ=59.25;MQ0=0;MQRankSum=-0.440;QD=10.60;ReadPosRankSum=-0.954;VQSLOD=6.4494;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,45:100:99:1090,0,1543 17 66533655 66533655 A G exonic FAM20A nonsynonymous SNV FAM20A:NM_017565:exon11:c.T1589C:p.L530S,FAM20A:NM_001243746:exon12:c.T1175C:p.L392S 0.8 0.87 0.76 0.9 0.68 0.74 0.7115 0.8372 0.7839 0.9048 0.6958 0.6460 0.6962 0.7514 0.72 0.83 0.66 0.81 0.61 rs2907373 . . Benign not_specified RCV000243426.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.652 0.059 N 1 0.090 P -0.51 0.026 N -1.55 0.817 D . . . 0.013 0.004 -1.000 0.300 T 0.000 0.000 T . . . -0.754 0.042 0.054 0.602 0.062 0.003 0.015 N c -1.488 -1.379 0.994 0.332 0.672 0.522 0 1.13 0.197 0.172 0.164 -0.300 0.081 0.000 0.063 0.000 0.016 2.235 0.037 . . . 0.7132 0.8416 0.7856 0.5855 0.9037 0.6912 0.6519 0.6810 0.7475 0.7253 0.8357 0.7804 0.5894 0.8958 0.6892 0.6517 0.7088 het 767.31 58 17 66533655 . A G 767.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.291;DP=58;Dels=0.00;FS=3.576;HRun=0;HaplotypeScore=4.4575;MQ=58.14;MQ0=0;MQRankSum=0.973;QD=13.23;ReadPosRankSum=0.708;VQSLOD=5.1121;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,30:58:99:797,0,787 17 66538239 66538239 G T exonic FAM20A nonsynonymous SNV FAM20A:NM_017565:exon7:c.C996A:p.N332K,FAM20A:NM_001243746:exon8:c.C582A:p.N194K 0.36 0.27 0.45 0.54 0.31 0.26 0.3236 0.2594 0.4461 0.5731 0.3279 0.2909 0.3106 0.2794 0.29 0.27 0.3 0.41 0.21 rs2302234 COSM5424332 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000246398.1 MedGen CN169374 . . . . . . . . . 0.811 0.434 P 0.341 0.407 B 0.003 0.355 N 0.000 0.588 P 1.15 0.294 L -0.95 0.754 T . . . 0.098 0.134 -0.988 0.332 T 0.000 0.000 T . . . 3.794 0.513 23.4 0.977 0.349 0.875 0.468 D c 0.162 0.292 1.000 0.747 0.635 0.413 0 5.02 0.666 2.586 0.455 1.048 0.713 1.000 0.715 0.999 0.750 16.842 0.858 FAM20\x2c C-terminal ENSG00000108946.10 Artery_Tibial 0.3309 0.2589 0.4438 0.2623 0.5774 0.3230 0.2914 0.3318 0.2765 0.3032 0.2732 0.4219 0.2667 0.5816 0.3183 0.2815 0.2965 het 1313.59 88 17 66538239 . G T 1313.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.335;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9933;MQ=60.00;MQ0=0;MQRankSum=1.067;QD=14.93;ReadPosRankSum=-0.092;VQSLOD=6.6824;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,49:88:99:1344,0,1119 17 66539847 66539847 C T exonic FAM20A synonymous SNV FAM20A:NM_017565:exon5:c.G735A:p.E245E,FAM20A:NM_001243746:exon6:c.G321A:p.E107E 0.23 0.076 0.34 0.45 0.18 0.2 0.2079 0.0887 0.3861 0.4659 0.1668 0.1682 0.1821 0.2013 0.15 0.098 0.18 0.21 0.11 rs2286562 COSM148324;COSM4000273 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2171 0.0857 0.3746 0.1631 0.4724 0.1605 0.1701 0.2066 0.1982 0.1632 0.0975 0.3449 0.1424 0.4808 0.1551 0.1591 0.1663 het 1908.13 161 17 66539847 . C T 1908.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.133;DP=161;Dels=0.00;FS=4.819;HRun=1;HaplotypeScore=0.9665;MQ=59.71;MQ0=0;MQRankSum=0.744;QD=11.85;ReadPosRankSum=-0.354;VQSLOD=6.2399;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,75:161:99:1938,0,2241 17 66872692 66872692 A G exonic ABCA8 nonsynonymous SNV ABCA8:NM_007168:exon33:c.T4159C:p.C1387R,ABCA8:NM_001288986:exon34:c.T4264C:p.C1422R,ABCA8:NM_001288985:exon35:c.T4279C:p.C1427R . . . . . . . . . . . . . . . . . . . rs201426674 . . . . . . . . . . . . . 0.004 0.654 D 1.0 0.899 D 0.993 0.832 D 0.000 0.504 D 1 0.810 D 1.445 0.365 L 0.52 0.553 T -9.77 0.986 D 0.791 0.781 -0.650 0.627 T 0.261 0.633 T 0.066 0.698 D 4.319 0.578 24.0 0.993 0.573 0.991 0.905 D c 0.346 0.222 0.001 0.081 0.554 0.283 0 2.72 0.310 5.901 0.694 1.199 0.960 1.000 0.715 0.919 0.394 8.861 0.342 AAA+ ATPase domain|ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 8.123e-06 0 0 0 0 0 1.791e-05 0 0 . . . . . . . . het 2052.82 205 17 66872692 . A G 2052.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.110;DP=205;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7824;MQ=59.41;MQ0=0;MQRankSum=1.721;QD=10.01;ReadPosRankSum=-0.613;VQSLOD=4.4093;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:124,81:205:99:2083,0,3215 17 66872802 66872802 G C exonic ABCA8 synonymous SNV ABCA8:NM_007168:exon32:c.C4122G:p.P1374P,ABCA8:NM_001288986:exon33:c.C4227G:p.P1409P,ABCA8:NM_001288985:exon34:c.C4242G:p.P1414P 0.81 0.66 0.86 0.99 0.74 0.88 0.7890 0.6774 0.8941 0.9919 0.7319 0.7509 0.7963 0.8556 0.73 0.68 0.75 0.7 0.86 rs1481 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7972 0.6745 0.8973 0.8095 0.9907 0.7389 0.7496 0.7977 0.8519 0.7409 0.6812 0.8577 0.8212 0.9926 0.7309 0.7405 0.7720 hom 7399.53 250 17 66872802 . G C 7399.53 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5816;MQ=59.40;MQ0=0;QD=29.60;VQSLOD=7.9681;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:250:99:7353,587,0 17 66985992 66985992 T G exonic ABCA9 nonsynonymous SNV ABCA9:NM_080283:exon30:c.A3917C:p.K1306T 0.41 0.086 0.55 0.34 0.65 0.59 0.5729 0.1549 0.5855 0.3015 0.6187 0.6583 0.5820 0.6036 0.48 0.17 0.64 0.3 0.64 rs2302294 COSM4415377 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 0.995 0.818 D 0.011 0.298 N 0.006 0.420 P 1.4 0.355 L 2.54 0.139 T -5.44 0.854 D 0.225 0.516 -1.032 0.196 T 0.000 0.000 T . . . 4.996 0.672 25.1 0.998 0.856 0.954 0.645 D c 0.384 0.349 0.014 0.125 0.615 0.372 0 3.89 0.439 4.477 0.597 0.946 0.533 1.000 0.715 0.263 0.230 11.061 0.470 ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase ENSG00000141338.9 Testis 0.5781 0.1416 0.5803 0.6306 0.3008 0.6262 0.6570 0.6089 0.6056 0.4906 0.1623 0.5849 0.5927 0.3 0.6251 0.6566 0.5890 het 927.89 59 17 66985992 . T G 927.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.489;DP=59;Dels=0.00;FS=7.561;HRun=0;HaplotypeScore=1.5317;MQ=59.61;MQ0=0;MQRankSum=-0.878;QD=15.73;ReadPosRankSum=-0.771;VQSLOD=4.5708;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,33:59:99:958,0,701 17 67028260 67028260 T C exonic ABCA9 synonymous SNV ABCA9:NM_080283:exon10:c.A1434G:p.K478K 0.41 0.093 0.56 0.27 0.66 0.61 0.5954 0.1708 0.6013 0.2290 0.6126 0.6981 0.5989 0.6302 0.52 0.19 0.69 0.33 0.68 rs2302291 COSM148325 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5997 0.1584 0.6010 0.6818 0.2325 0.6232 0.6985 0.6412 0.6190 0.5085 0.1775 0.5962 0.6258 0.2228 0.6183 0.6916 0.6196 het 1095.98 108 17 67028260 . T C 1095.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.620;DP=108;Dels=0.00;FS=4.971;HRun=1;HaplotypeScore=1.7608;MQ=59.27;MQ0=0;MQRankSum=-1.246;QD=10.15;ReadPosRankSum=0.099;VQSLOD=5.3721;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,47:108:99:1126,0,1681 17 67031457 67031457 C T exonic ABCA9 nonsynonymous SNV ABCA9:NM_080283:exon8:c.G1058A:p.R353H 0.86 0.61 0.93 1. 0.93 0.92 0.9204 0.6761 0.9618 0.9994 0.9270 0.9408 0.9383 0.9178 0.86 0.7 0.94 0.76 0.94 rs1860447 . . . . . . . . . . . . . 0.683 0.044 T 0.0 0.026 B 0.002 0.093 B 0.145 0.181 N 1.000 0.090 P -1.39 0.006 N -2.19 0.868 D 1.88 0.005 N 0.022 0.013 -0.986 0.335 T 0.000 0.000 T . . . 1.042 0.194 10.90 0.178 0.005 0.003 0.015 N c -1.366 -1.219 0.000 0.012 0.615 0.372 0 1.85 0.243 2.441 0.443 -0.252 0.090 0.069 0.218 0.305 0.238 4.375 0.106 . . . 0.9250 0.6639 0.9597 0.9423 0.9995 0.9277 0.9387 0.9355 0.9163 0.8624 0.6698 0.9522 0.9106 1 0.9241 0.9357 0.9127 hom 5220.69 171 17 67031457 . C T 5220.69 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=59.32;MQ0=0;QD=30.53;VQSLOD=9.1449;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5220,406,0 17 67081830 67081830 T C exonic ABCA6 nonsynonymous SNV ABCA6:NM_080284:exon31:c.A3965G:p.N1322S 0.46 0.16 0.67 0.38 0.65 0.61 0.5867 0.2439 0.6883 0.3270 0.6038 0.6543 0.5784 0.5864 0.51 0.26 0.65 0.29 0.7 rs2302134 COSM4000276 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.082 0.332 T 0.841 0.445 P 0.45 0.443 P 0.313 0.144 N 0.035 0.384 P 2.125 0.592 M -3.59 0.950 D -4.28 0.763 D 0.064 0.049 -1.011 0.266 T 0.000 0.000 T . . . 1.379 0.229 12.68 0.997 0.838 0.887 0.485 D c 0.170 0.108 0.000 0.060 0.732 0.924 0 1.13 0.197 2.214 0.423 1.061 0.807 0.991 0.370 0.998 0.697 8.291 0.309 AAA+ ATPase domain|ABC transporter-like|P-loop containing nucleoside triphosphate hydrolase . . 0.5925 0.2353 0.6872 0.5470 0.3336 0.6013 0.6551 0.6280 0.5876 0.5192 0.2480 0.6647 0.5397 0.3298 0.5992 0.6641 0.6148 hom 2125.35 72 17 67081830 . T C 2125.35 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;QD=29.52;VQSLOD=8.5403;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2158,162,0 17 67101718 67101718 C T exonic ABCA6 nonsynonymous SNV ABCA6:NM_080284:exon20:c.G2625A:p.M875I 0.75 0.36 0.77 0.88 0.93 0.93 0.8772 0.4555 0.8050 0.8520 0.9141 0.9436 0.9102 0.9180 0.78 0.46 0.94 0.7 0.75 rs7212506 . . . . . . . . . . . . . 0.475 0.083 T 0.0 0.026 B 0.002 0.063 B 0.199 0.033 N 1 0.090 P -0.55 0.024 N -2.02 0.856 D -0.56 0.170 N 0.026 0.008 -0.955 0.401 T 0.000 0.000 T . . . -1.377 0.020 0.004 0.514 0.045 0.012 0.042 N c -1.650 -1.643 0.001 0.073 0.651 0.465 0 -1.72 0.076 -2.269 0.012 -0.683 0.039 0.000 0.063 0.000 0.016 1.551 0.024 . . . 0.8794 0.4433 0.8033 0.9294 0.8516 0.9131 0.9442 0.8968 0.9157 0.7916 0.4632 0.7978 0.9106 0.8441 0.9115 0.9397 0.8778 hom 973.13 31 17 67101718 . C T 973.13 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.79;MQ0=0;QD=31.39;VQSLOD=9.7806;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:81.25:1006,81,0 17 67125840 67125840 C T exonic ABCA6 nonsynonymous SNV ABCA6:NM_080284:exon7:c.G844A:p.V282I 0.56 0.33 0.72 0.47 0.71 0.67 0.6563 0.4019 0.7347 0.4518 0.6669 0.7045 0.6369 0.6687 0.6 0.41 0.7 0.5 0.7 rs4968839 COSM4000277 3(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 0.307 0.141 T 0.0 0.026 B 0.002 0.063 B 0.070 0.216 N 1 0.090 P -2.135 0.001 N -1.67 0.828 D 0.53 0.028 N 0.046 0.026 -0.903 0.477 T 0.000 0.000 T . . . 0.288 0.122 5.581 0.751 0.106 0.025 0.068 N c -1.074 -0.884 0.000 0.035 0.651 0.465 0 2.06 0.258 1.255 0.323 0.149 0.237 0.999 0.424 0.251 0.228 1.991 0.032 . ENSG00000154262.8|ENSG00000154262.8|ENSG00000154263.13 Brain_Hippocampus|Nerve_Tibial|Testis 0.6606 0.3957 0.7348 0.6085 0.4585 0.6663 0.7054 0.6889 0.6708 0.6075 0.4056 0.7196 0.6126 0.4598 0.6628 0.7158 0.6867 hom 3535.77 121 17 67125840 . C T 3535.77 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=29.22;VQSLOD=8.5738;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3535,268,0 17 67178316 67178316 A G exonic ABCA10 nonsynonymous SNV ABCA10:NM_080282:exon23:c.T2747C:p.M916T 0.71 0.85 0.79 0.47 0.73 0.69 0.7118 0.8395 0.7656 0.4521 0.7253 0.7210 0.6903 0.6884 0.76 0.84 0.72 0.45 0.76 rs4968849 COSM4000278 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.502 0.119 N 1 0.090 P -1.68 0.004 N -1.59 0.821 D 3.42 0.001 N 0.013 0.031 -0.971 0.370 T 0.000 0.000 T . . . -2.211 0.006 0.001 0.162 0.004 0.002 0.011 N c -1.786 -1.725 0.000 0.012 0.554 0.246 0 0.662 0.170 0.185 0.166 -0.679 0.039 0.000 0.063 0.000 0.016 7.444 0.262 . ENSG00000154263.13 Testis 0.7101 0.8419 0.7676 0.6078 0.4604 0.7241 0.7223 0.7277 0.6929 0.7448 0.8326 0.7560 0.6126 0.4608 0.7261 0.7310 0.7387 hom 1929.17 69 17 67178316 . A G 1929.17 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.77;MQ0=0;QD=27.96;VQSLOD=7.0595;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:1962,153,0 17 67210992 67210992 T C exonic ABCA10 nonsynonymous SNV ABCA10:NM_080282:exon10:c.A859G:p.I287V 0.26 0.017 0.28 0.28 0.41 0.41 0.3623 0.0789 0.2745 0.2410 0.3836 0.4254 0.3677 0.3857 0.3 0.083 0.41 0.15 0.3 rs11657804 COSM3755780 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.775 0.033 T 0.198 0.279 B 0.123 0.309 B . . . 1.000 0.186 P 0.755 0.192 N -2.39 0.884 D -0.75 0.210 N 0.081 0.074 -1.074 0.085 T 0.000 0.000 T . . . -2.484 0.003 0.001 0.232 0.010 0.444 0.271 N c -0.994 -1.026 0.000 0.012 0.428 0.059 0 -0.889 0.100 -0.144 0.102 -0.418 0.060 0.332 0.254 0.001 0.043 5.009 0.136 . ENSG00000154265.11 Testis 0.3676 0.0734 0.2687 0.3333 0.2324 0.3703 0.4262 0.3624 0.3822 0.3124 0.0834 0.2658 0.3179 0.2419 0.3698 0.4394 0.3624 hom 1132.51 40 17 67210992 . T C 1132.51 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.86;MQ0=0;QD=28.31;VQSLOD=7.9770;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:87.26:1166,87,0 17 67212031 67212031 A G exonic ABCA10 synonymous SNV ABCA10:NM_080282:exon9:c.T783C:p.Y261Y 0.47 0.25 0.56 0.35 0.66 0.63 0.5919 0.3228 0.5766 0.3004 0.6317 0.6636 0.6015 0.6180 0.58 0.42 0.66 0.3 0.68 rs11077414 COSM4000280 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5915 0.3141 0.5728 0.5505 0.3087 0.6271 0.6653 0.6250 0.6217 0.5454 0.3328 0.5586 0.5397 0.2995 0.6262 0.6715 0.6155 hom 4303.36 137 17 67212031 . A G 4303.36 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=58.81;MQ0=0;QD=31.41;VQSLOD=8.6718;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4303,325,0 17 67212423 67212423 G A exonic ABCA10 nonsynonymous SNV ABCA10:NM_080282:exon8:c.C607T:p.P203S 0.58 0.64 0.6 0.35 0.66 0.64 0.6209 0.6409 0.5935 0.2993 0.6314 0.6639 0.6123 0.6185 0.65 0.65 0.66 0.47 0.7 rs9909216 COSM4000281 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.444 0.091 T 0.013 0.154 B 0.029 0.203 B 0.915 0.085 U 1 0.090 P 0.55 0.145 N -2.24 0.872 D -0.15 0.093 N 0.051 0.054 -0.965 0.382 T 0.000 0.000 T . . . -0.738 0.043 0.059 0.313 0.018 0.029 0.077 N c -1.167 -1.152 0.000 0.038 0.554 0.283 0 2.35 0.280 -0.033 0.121 0.922 0.432 0.000 0.063 0.001 0.043 9.052 0.354 . . . 0.6142 0.6377 0.5881 0.5411 0.3081 0.6274 0.6667 0.6371 0.6215 0.6345 0.6409 0.5815 0.5367 0.3005 0.6260 0.6736 0.6352 hom 7580.71 231 17 67212423 . G A 7580.71 Mask AC=2;AF=1.00;AN=2;DP=231;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7728;MQ=59.38;MQ0=0;QD=32.82;VQSLOD=9.3635;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,231:231:99:7580,584,0 17 67215712 67215712 C T exonic ABCA10 synonymous SNV ABCA10:NM_080282:exon7:c.G504A:p.V168V 0.6 0.71 0.61 0.35 0.66 0.63 0.6294 0.6994 0.5958 0.2984 0.6376 0.6670 0.6225 0.6282 0.67 0.7 0.66 0.47 0.61 rs12941264 COSM4000282 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6201 0.6976 0.5919 0.5525 0.3083 0.6359 0.6667 0.6409 0.6229 0.6512 0.6954 0.5859 0.5430 0.3007 0.6349 0.6735 0.6385 hom 2328.05 79 17 67215712 . C T 2328.05 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.47;VQSLOD=13.3775;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2361,181,0 17 67260926 67260926 A G exonic ABCA5 synonymous SNV ABCA5:NM_018672:exon23:c.T3265C:p.L1089L,ABCA5:NM_172232:exon24:c.T3265C:p.L1089L 0.38 0.18 0.35 0.41 0.49 0.52 0.4368 0.2375 0.3171 0.3810 0.4367 0.4805 0.4568 0.4960 0.39 0.23 0.47 0.28 0.35 rs12449649 COSM3755781 1(breast);1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4347 0.2284 0.3214 0.4859 0.3858 0.4361 0.4792 0.4670 0.4963 0.3958 0.2313 0.3158 0.4570 0.3806 0.4293 0.4863 0.4346 hom 2555.02 83 17 67260926 . A G 2555.02 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.74;MQ0=0;QD=30.78;VQSLOD=9.0344;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2588,202,0 17 67273882 67273882 C A exonic ABCA5 nonsynonymous SNV ABCA5:NM_018672:exon18:c.G2494T:p.A832S,ABCA5:NM_172232:exon19:c.G2494T:p.A832S 0.8 0.6 0.75 0.95 0.86 0.91 0.8472 0.6336 0.7992 0.9483 0.8575 0.8620 0.8488 0.8991 0.78 0.63 0.85 0.72 0.83 rs536009 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.008 0.311 N 1 0.090 P 0 0.065 N -2.11 0.862 D 0.04 0.065 N 0.021 0.005 -0.959 0.394 T 0.000 0.000 T . . . 0.773 0.168 9.296 0.542 0.050 0.014 0.047 N c -0.882 -0.727 0.000 0.057 0.732 0.924 0 2.1 0.261 0.321 0.192 0.242 0.267 0.113 0.228 0.996 0.625 9.993 0.409 . ENSG00000154265.11 Lung 0.8483 0.6287 0.8013 0.8664 0.9457 0.8570 0.8607 0.8409 0.9002 0.7985 0.6329 0.7995 0.85 0.9400 0.8458 0.8653 0.8313 hom 2007.26 66 17 67273882 . C A 2007.26 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;QD=30.41;VQSLOD=8.6691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2040,159,0 17 70118935 70118935 C T exonic SOX9 synonymous SNV SOX9:NM_000346:exon2:c.C507T:p.H169H 0.14 0.042 0.13 0.014 0.25 0.29 0.1933 0.0656 0.1049 0.0186 0.2965 0.2198 0.2082 0.2770 0.17 0.07 0.22 0.13 0.16 rs2229989 COSM437264 2(liver);1(thyroid);1(large_intestine) Pathogenic|Uncertain significance\x2cBenign|Benign Camptomelic_dysplasia|not_specified\x2cCamptomelic_dysplasia|not_specified RCV000224991.2|RCV000278794.1\x2cRCV000020284.2|RCV000294198.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen\x2cMedGen:OMIM:Orphanet:SNOMED_CT|MedGen C1861922:114290:ORPHA140:74928006|CN169374\x2cC1861922:114290:ORPHA140:74928006|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1937 0.0614 0.1069 0.2300 0.0179 0.3032 0.2172 0.1936 0.2761 0.1722 0.0666 0.1146 0.2433 0.0173 0.2826 0.2238 0.2127 hom 4112.27 136 17 70118935 . C T 4112.27 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.244;DP=136;Dels=0.00;FS=2.965;HRun=0;HaplotypeScore=4.9494;MQ=59.21;MQ0=0;MQRankSum=-0.569;QD=30.24;ReadPosRankSum=0.334;VQSLOD=3.7992;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,134:136:99:4043,281,0 17 70943990 70943990 T C exonic SLC39A11 nonsynonymous SNV SLC39A11:NM_001159770:exon5:c.A331G:p.T111A,SLC39A11:NM_139177:exon5:c.A331G:p.T111A 0.89 0.61 0.95 0.99 1. 1. 0.9668 0.6801 0.9761 0.9883 0.9991 0.9961 0.9791 0.9976 0.89 0.7 1. 0.84 0.99 rs2466517 . . . . . . . . . . . . . 1.0 0.022 T 0.0 0.026 B 0.001 0.040 B 0.004 0.345 N 1.000 0.182 P -1.84 0.003 N -0.96 0.758 T 1.17 0.011 N 0.029 0.320 -0.956 0.399 T 0.000 0.000 T . . . 0.316 0.124 5.850 0.826 0.138 0.007 0.031 N c -0.748 -0.527 0.030 0.139 0.706 0.609 0 4.62 0.568 2.868 0.479 0.069 0.176 0.993 0.376 0.894 0.377 8.939 0.347 . . . 0.9724 0.6700 0.9750 0.9830 0.9880 0.9994 0.9971 0.9792 0.9973 0.9045 0.6748 0.9581 0.9702 0.9908 0.9986 0.9975 0.9776 hom 5249.41 163 17 70943990 . T C 5249.41 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5982;MQ=58.40;MQ0=0;QD=32.20;VQSLOD=6.2041;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5249,412,0 17 71232804 71232804 C A exonic C17orf80 nonsynonymous SNV C17orf80:NM_001100621:exon3:c.C1183A:p.H395N,C17orf80:NM_001100622:exon3:c.C1183A:p.H395N,C17orf80:NM_001288770:exon3:c.C1183A:p.H395N,C17orf80:NM_001288771:exon3:c.C1183A:p.H395N,C17orf80:NM_001351264:exon3:c.C1183A:p.H395N,C17orf80:NM_001351265:exon3:c.C1183A:p.H395N,C17orf80:NM_017941:exon3:c.C1183A:p.H395N 0.99 0.96 1. 1. 1. 1. 0.9975 0.9743 0.9984 0.9999 1 0.9998 0.9989 1 0.99 0.98 1. 0.99 0.98 rs904384 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.129 0.028 N 1 0.090 P -1.355 0.007 N 2.8 0.111 T 3.17 0.002 N 0.007 0.029 -0.944 0.420 T 0.000 0.000 T . . . -1.355 0.021 0.004 0.519 0.046 0.002 0.010 N c -1.679 -1.576 0.990 0.321 0.707 0.730 0 0.997 0.189 -1.499 0.024 0.106 0.201 0.000 0.063 0.001 0.043 12.387 0.545 . . . 0.9981 0.9739 0.9985 1 1 1 0.9998 0.9984 0.9999 0.9918 0.9710 1 1 1 1 0.9999 0.9990 hom 1972.27 57 17 71232804 . C A 1972.27 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=34.60;VQSLOD=9.5959;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:2005,163,0 17 71239087 71239087 G T exonic C17orf80 synonymous SNV C17orf80:NM_001100621:exon4:c.G1566T:p.T522T,C17orf80:NM_001288770:exon4:c.G1566T:p.T522T,C17orf80:NM_001288771:exon4:c.G1566T:p.T522T,C17orf80:NM_001351265:exon4:c.G1566T:p.T522T,C17orf80:NM_001100622:exon5:c.G1674T:p.T558T,C17orf80:NM_001351264:exon5:c.G1674T:p.T558T,C17orf80:NM_017941:exon5:c.G1674T:p.T558T 0.22 0.041 0.38 0.16 0.33 0.3 0.3192 0.0869 0.3834 0.1824 0.3727 0.3601 0.3326 0.3043 0.27 0.094 0.36 0.12 0.3 rs1566290 COSM3755800;COSM148332 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3272 0.0802 0.3795 0.3811 0.1861 0.3643 0.3622 0.3447 0.2982 0.2806 0.0823 0.3792 0.3675 0.1991 0.3634 0.3744 0.3429 hom 2394.45 78 17 71239087 . G T 2394.45 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.95;MQ0=0;QD=30.70;VQSLOD=8.6286;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2427,193,0 17 71390366 71390366 C A exonic SDK2 synonymous SNV SDK2:NM_001144952:exon26:c.G3690T:p.G1230G 0.21 0.055 0.46 0.046 0.44 0.16 0.4285 0.1347 0.5217 0.0839 0.4379 0.5013 0.4299 0.3377 0.35 0.13 0.47 0.18 . rs904381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3730 0.1058 0.4771 0.3579 0.0579 0.3690 0.4675 0.4025 0.2314 0.3339 0.1103 0.4665 0.3510 0.0667 0.3845 0.4698 0.3949 het 269.67 20 17 71390366 . C A 269.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.610;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.19;MQ0=1;MQRankSum=-0.124;QD=13.48;ReadPosRankSum=0.372;VQSLOD=6.3673;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,11:20:99:300,0,199 17 71426656 71426656 G T exonic SDK2 nonsynonymous SNV SDK2:NM_001144952:exon12:c.C1577A:p.T526N 0.14 0.043 0.2 0.07 0.29 0.12 0.2690 0.0944 0.3036 0.0872 0.3728 0.3229 0.2591 0.1652 0.21 0.083 0.27 0.054 . rs1105353 COSM3755811;COSM3755810 1(large_intestine) . . . . . . . . . . . 0.511 0.075 T 0.002 0.126 B 0.009 0.133 B 0.116 0.192 N 1.000 0.090 P 0.715 0.187 N -0.28 0.676 T -1.83 0.429 N 0.029 0.010 -1.058 0.122 T 0.000 0.000 T . . . 0.292 0.122 5.614 0.658 0.077 0.315 0.241 N c -0.516 -0.487 1.000 0.747 0.646 0.450 0 3.89 0.439 2.989 0.488 0.075 0.182 0.226 0.244 0.243 0.226 6.844 0.230 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.2221 0.0696 0.2136 0.2355 0.0588 0.3243 0.2718 0.2422 0.1372 0.2228 0.0836 0.2093 0.2119 0.0723 0.3262 0.2939 0.2731 het 225.53 23 17 71426656 . G T 225.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.370;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9332;MQ=58.99;MQ0=0;MQRankSum=-0.585;QD=9.81;ReadPosRankSum=0.154;VQSLOD=6.4471;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:256,0,303 17 71426670 71426670 G A exonic SDK2 synonymous SNV SDK2:NM_001144952:exon12:c.C1563T:p.H521H 0.13 0.043 0.2 0.066 0.29 0.11 0.2550 0.0900 0.2806 0.0712 0.3635 0.3081 0.2479 0.1557 0.21 0.084 0.27 0.054 . rs1105354 COSM3755813;COSM3755812 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2210 0.0702 0.2141 0.2367 0.0535 0.3248 0.2714 0.2410 0.132 0.2211 0.0830 0.2067 0.2119 0.0655 0.3253 0.2916 0.2756 het 284.75 28 17 71426670 . G A 284.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.152;DP=28;Dels=0.00;FS=1.527;HRun=0;HaplotypeScore=0.6651;MQ=59.17;MQ0=0;MQRankSum=1.244;QD=10.17;ReadPosRankSum=-0.553;VQSLOD=6.5558;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,15:28:99:315,0,335 17 72218626 72218626 G A exonic TTYH2 synonymous SNV TTYH2:NM_001330453:exon2:c.G69A:p.S23S,TTYH2:NM_032646:exon2:c.G132A:p.S44S 0.003 0.0008 0.0029 . 0.007 0.0051 0.0045 0.0017 0.0010 0 0.0023 0.0065 0.0034 0.0041 0.0046 0.0016 0.0062 . . rs145281785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0045 0.0015 0.0010 0.0004 0 0.0019 0.0076 0.0031 0.0040 0.0042 0.0006 0.0024 0.0033 0 0.0017 0.0075 0.0031 het 988.83 77 17 72218626 . G A 988.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.686;DP=77;Dels=0.00;FS=0.934;HRun=0;HaplotypeScore=1.6567;MQ=59.21;MQ0=0;MQRankSum=-0.499;QD=12.84;ReadPosRankSum=0.364;VQSLOD=5.0035;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,39:77:99:1019,0,860 17 72233559 72233559 G A exonic TTYH2 nonsynonymous SNV TTYH2:NM_001330453:exon4:c.G478A:p.V160I,TTYH2:NM_032646:exon4:c.G541A:p.V181I 0.22 0.35 0.15 0.03 0.21 0.31 0.2233 0.3324 0.1284 0.0199 0.2060 0.2287 0.2262 0.3123 0.27 0.33 0.24 0.23 0.21 rs62621376 COSM3755814 1(large_intestine) . . . . . . . . . . . 0.492 0.102 T 0.087 0.299 B 0.028 0.271 B 0.005 0.336 N 0.991 0.240 P -0.535 0.025 N 2.82 0.109 T 0.04 0.065 N 0.026 0.045 -0.918 0.459 T 0.000 0.000 T . . . -0.571 0.051 0.147 0.767 0.112 0.255 0.225 N c -1.356 -1.314 0.046 0.147 0.638 0.428 0 -2.01 0.070 1.308 0.329 -0.159 0.107 0.682 0.282 0.000 0.016 11.549 0.498 . ENSG00000141540.6 Nerve_Tibial 0.2163 0.3324 0.1357 0.2621 0.0197 0.2038 0.2291 0.2100 0.3056 0.2405 0.3210 0.1217 0.2733 0.0191 0.2144 0.2302 0.2357 het 1819.09 119 17 72233559 . G A 1819.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.954;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8094;MQ=59.26;MQ0=0;MQRankSum=-0.259;QD=15.29;ReadPosRankSum=1.751;VQSLOD=5.5892;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,66:119:99:1849,0,1279 17 72240168 72240168 G A exonic TTYH2 nonsynonymous SNV TTYH2:NM_001330453:exon6:c.G721A:p.A241T,TTYH2:NM_032646:exon6:c.G784A:p.A262T 0.11 0.085 0.16 0.049 0.15 0.13 0.1441 0.1077 0.1549 0.0492 0.1980 0.1574 0.1416 0.1346 0.14 0.12 0.15 0.11 0.19 rs35682745 COSM3773829 2(kidney) . . . . . . . . . . . 0.089 0.321 T 0.023 0.176 B 0.01 0.154 B 0.002 0.371 N 1.000 0.204 P 1.64 0.420 L 2.7 0.122 T -0.99 0.262 N 0.424 0.480 -1.097 0.044 T 0.000 0.001 T . . . 1.191 0.209 11.70 0.941 0.236 0.798 0.393 D c -0.576 -0.567 0.503 0.209 0.651 0.465 0 3.16 0.353 3.348 0.517 0.078 0.186 0.329 0.254 0.380 0.251 8.859 0.342 . ENSG00000171595.9|ENSG00000141540.6 Testis|Thyroid 0.1449 0.1112 0.1533 0.1072 0.0486 0.1967 0.1587 0.1384 0.1352 0.1483 0.1162 0.1663 0.0967 0.0530 0.1880 0.1675 0.1578 het 449.06 60 17 72240168 . G A 449.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.651;DP=60;Dels=0.00;FS=9.995;HRun=0;HaplotypeScore=0.9995;MQ=59.69;MQ0=0;MQRankSum=-1.889;QD=7.48;ReadPosRankSum=0.196;VQSLOD=2.2570;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,22:60:99:479,0,879 17 72240177 72240177 T G exonic TTYH2 nonsynonymous SNV TTYH2:NM_001330453:exon6:c.T730G:p.S244A,TTYH2:NM_032646:exon6:c.T793G:p.S265A 0.38 0.62 0.31 0.097 0.36 0.43 0.3817 0.6109 0.2910 0.0857 0.4029 0.3821 0.3744 0.4460 0.46 0.6 0.39 0.46 0.42 rs35999669 COSM437296 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.090 P -1.835 0.003 N 3.16 0.077 T 2.12 0.004 N 0.329 0.390 -0.964 0.383 T 0.000 0.000 T . . . -0.564 0.052 0.153 0.231 0.010 0.038 0.090 N c -1.191 -0.983 0.165 0.176 0.651 0.465 0 4.04 0.461 2.787 0.472 0.086 0.193 0.996 0.391 0.040 0.157 6.888 0.232 . ENSG00000141540.6|ENSG00000264272.1 Thyroid|Thyroid 0.3711 0.6127 0.2977 0.3545 0.0833 0.3957 0.3840 0.3530 0.4384 0.4354 0.6052 0.3082 0.3456 0.0828 0.3966 0.3946 0.4053 hom 1451.85 53 17 72240177 . T G 1451.85 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=59.65;MQ0=0;QD=27.39;VQSLOD=6.5824;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1485,120,0 17 72246466 72246466 C T exonic TTYH2 synonymous SNV TTYH2:NM_052869:exon4:c.C123T:p.T41T,TTYH2:NM_001330453:exon10:c.C1023T:p.T341T,TTYH2:NM_032646:exon10:c.C1086T:p.T362T 0.36 0.55 0.3 0.11 0.36 0.39 0.3771 0.5483 0.3018 0.0989 0.4101 0.3916 0.3516 0.4010 0.45 0.53 0.4 0.39 0.42 rs7224615 COSM148334 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3649 0.5385 0.3024 0.3936 0.0931 0.3942 0.3884 0.3600 0.3869 0.4240 0.5361 0.3198 0.4007 0.0986 0.3929 0.4087 0.4070 het 528.42 44 17 72246466 . C T 528.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.699;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7802;MQ=56.47;MQ0=0;MQRankSum=0.884;QD=12.01;ReadPosRankSum=1.049;VQSLOD=3.7167;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,20:44:99:558,0,558 17 72248483 72248483 A G exonic TTYH2 synonymous SNV TTYH2:NM_052869:exon5:c.A264G:p.A88A,TTYH2:NM_001330453:exon11:c.A1164G:p.A388A,TTYH2:NM_032646:exon11:c.A1227G:p.A409A 0.36 0.56 0.3 0.11 0.36 0.39 0.3731 0.5454 0.2944 0.0981 0.3962 0.3886 0.3509 0.3932 0.42 0.5 0.38 0.35 0.39 rs4789640 COSM148336 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3680 0.5470 0.3040 0.3944 0.0940 0.3963 0.3917 0.3612 0.3888 0.4272 0.5431 0.3210 0.4007 0.0981 0.3929 0.4111 0.4090 het 1068.98 89 17 72248483 . A G 1068.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.621;DP=89;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.5508;MQ=59.37;MQ0=0;MQRankSum=-0.482;QD=12.01;ReadPosRankSum=0.763;VQSLOD=5.7575;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,40:89:99:1099,0,1472 17 72248512 72248512 C T exonic TTYH2 nonsynonymous SNV TTYH2:NM_052869:exon5:c.C293T:p.T98I,TTYH2:NM_001330453:exon11:c.C1193T:p.T398I,TTYH2:NM_032646:exon11:c.C1256T:p.T419I 0.086 0.02 0.13 0.046 0.14 0.12 0.1337 0.0387 0.1491 0.0511 0.1906 0.1510 0.1380 0.1343 0.11 0.043 0.15 0.076 0.13 rs12600564 COSM5009697 1(large_intestine) . . . . . . . . . . . 0.177 0.272 T 0.038 0.196 B 0.016 0.166 B 0.523 0.117 N 1.000 0.186 P 1.6 0.409 L 2.76 0.115 T -1.58 0.414 N 0.036 0.347 -0.978 0.355 T 0.000 0.000 T . . . 2.147 0.319 17.16 0.985 0.413 0.090 0.147 N c -0.585 -0.512 0.223 0.184 0.732 0.924 0 0.617 0.167 0.046 0.138 -1.078 0.019 0.006 0.172 0.631 0.295 4.459 0.110 . ENSG00000171595.9|ENSG00000141540.6|ENSG00000171595.9 Testis|Thyroid|Whole_Blood 0.1358 0.0371 0.1456 0.1131 0.0499 0.1858 0.1527 0.1291 0.1347 0.1243 0.0425 0.1635 0.1093 0.0549 0.1798 0.1628 0.1513 het 854.28 64 17 72248512 . C T 854.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.840;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.12;MQ0=0;MQRankSum=0.853;QD=13.35;ReadPosRankSum=-0.329;VQSLOD=6.7063;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,32:64:99:884,0,961 17 72301432 72301432 A G exonic DNAI2 synonymous SNV DNAI2:NM_001172810:exon9:c.A1062G:p.E354E,DNAI2:NM_023036:exon9:c.A1062G:p.E354E 0.4 0.3 0.37 0.25 0.61 0.49 0.5233 0.3531 0.3119 0.2567 0.5921 0.6154 0.5264 0.5179 0.53 0.36 0.62 0.43 0.62 rs8073660 COSM4130569 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150499.2|RCV000339895.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5173 0.3475 0.3262 0.5278 0.2481 0.5910 0.6225 0.5308 0.5204 0.5136 0.3477 0.3580 0.5232 0.2388 0.5916 0.6270 0.5597 het 2201.92 165 17 72301432 . A G 2201.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.070;DP=165;Dels=0.00;FS=8.007;HRun=0;HaplotypeScore=0.8941;MQ=59.35;MQ0=0;MQRankSum=-0.667;QD=13.34;ReadPosRankSum=0.582;VQSLOD=4.8786;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,91:165:99:2232,0,1978 17 72308319 72308319 G A exonic DNAI2 nonsynonymous SNV DNAI2:NM_001172810:exon12:c.G1636A:p.A546T,DNAI2:NM_023036:exon12:c.G1672A:p.A558T 0.74 0.43 0.88 0.85 0.89 0.8 0.8581 0.4950 0.9403 0.8515 0.8858 0.9012 0.8482 0.8346 0.77 0.5 0.91 0.62 0.85 rs1979370 COSM4130570 1(kidney);1(thyroid) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150502.4|RCV000384675.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . 0.451 0.090 T 0.002 0.090 B 0.0 0.013 B 0.052 0.020 N 1 0.090 P 0.64 0.161 N -0.22 0.670 T -1.33 0.332 N 0.018 0.030 -0.996 0.310 T 0.000 0.000 T . . . -1.230 0.024 0.006 0.843 0.147 0.030 0.078 N c -1.807 -1.970 0.999 0.388 0.554 0.246 0 -9.42 0.005 -2.172 0.013 -2.195 0.004 0.000 0.063 0.004 0.083 2.504 0.043 . . . 0.8644 0.4694 0.9333 0.8816 0.8472 0.8851 0.9033 0.8724 0.8303 0.7821 0.4879 0.9165 0.9007 0.8267 0.8939 0.9066 0.8661 hom 1196.61 41 17 72308319 . G A 1196.61 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.19;VQSLOD=13.6659;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1230,102,0 17 72346855 72346855 T C exonic KIF19 synonymous SNV KIF19:NM_153209:exon12:c.T1398C:p.H466H 0.6 0.16 0.75 0.74 0.78 0.77 0.7430 0.2282 0.8036 0.7426 0.7796 0.8006 0.7868 0.7717 0.61 0.25 0.8 0.48 . rs11077744 COSM3755820 1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7527 0.2153 0.7986 0.7623 0.7468 0.7801 0.8020 0.7567 0.7696 0.6320 0.2383 0.7476 0.7483 0.7571 0.7911 0.7932 0.7556 hom 2180.71 64 17 72346855 . T C 2180.71 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=59.86;MQ0=0;QD=34.07;VQSLOD=8.4215;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2214,181,0 17 72346868 72346868 C T exonic KIF19 nonsynonymous SNV KIF19:NM_153209:exon12:c.C1411T:p.R471W 0.097 0.041 0.1 0.22 0.095 0.05 0.1016 0.0364 0.1775 0.2322 0.0448 0.0984 0.0926 0.0570 0.077 0.039 0.097 0.065 . rs2382644 COSM4415294 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.04 0.506 D 0.999 0.764 D 0.895 0.645 P . . . 1 0.090 P 2.485 0.726 M -0.86 0.745 T -3.43 0.677 D 0.161 0.391 -0.172 0.784 T 0.001 0.004 T . . . 3.539 0.483 23.1 0.992 0.543 0.097 0.152 N c -0.910 -1.259 1.000 0.443 0.583 0.331 0 -11.5 0.001 -1.331 0.028 -0.526 0.049 0.000 0.063 0.961 0.442 22.657 1.000 . . . 0.1054 0.0360 0.1726 0.1517 0.2338 0.0459 0.0953 0.1142 0.0581 0.0814 0.0358 0.1456 0.1433 0.2503 0.0541 0.0917 0.0745 het 1049.40 62 17 72346868 . C T 1049.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.777;DP=62;Dels=0.00;FS=7.543;HRun=0;HaplotypeScore=0.8667;MQ=59.40;MQ0=0;MQRankSum=-0.093;QD=16.93;ReadPosRankSum=2.004;VQSLOD=3.8466;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,36:62:99:1079,0,774 17 72350362 72350362 G A exonic KIF19 synonymous SNV KIF19:NM_153209:exon18:c.G2370A:p.S790S 0.26 0.11 0.3 0.35 0.28 0.31 0.2971 0.1139 0.3788 0.3473 0.2514 0.2999 0.3302 0.3177 0.23 0.11 0.28 0.18 . rs72852235 COSM437307 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3003 0.1114 0.3700 0.4361 0.3481 0.2571 0.2867 0.3137 0.3167 0.2360 0.1153 0.3313 0.3974 0.3593 0.2605 0.2760 0.2781 hom 2256.62 75 17 72350362 . G A 2256.62 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9965;MQ=59.25;MQ0=0;QD=30.09;VQSLOD=8.4207;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2290,192,0 17 72351406 72351406 C T exonic KIF19 synonymous SNV KIF19:NM_153209:exon20:c.C2952T:p.H984H 0.35 0.22 0.38 0.41 0.36 0.44 0.3781 0.2525 0.4480 0.3958 0.2877 0.3766 0.3909 0.4337 0.33 0.25 0.37 0.28 . rs2271536 COSM4130573 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3793 0.2464 0.4380 0.5708 0.3962 0.2846 0.3625 0.3962 0.4360 0.3220 0.2420 0.4318 0.5467 0.3996 0.2889 0.3550 0.3589 hom 1173.45 38 17 72351406 . C T 1173.45 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;QD=30.88;VQSLOD=8.6352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:96.29:1206,96,0 17 72366695 72366695 C A exonic GPR142 nonsynonymous SNV GPR142:NM_001331076:exon3:c.C130A:p.H44N,GPR142:NM_001331077:exon3:c.C130A:p.H44N,GPR142:NM_181790:exon3:c.C394A:p.H132N 0.95 0.87 0.98 1. 1. 0.96 0.9822 0.8855 0.9925 0.9994 1 0.9983 0.9833 0.9547 0.96 0.89 1. 0.8 0.98 rs2382647 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -1.125 0.009 N -0.14 0.650 T 2.16 0.003 N 0.053 0.035 -0.937 0.431 T 0.000 0.000 T . . . -0.050 0.089 2.130 0.343 0.021 0.062 0.120 N c -1.019 -0.803 0.570 0.215 0.578 0.323 0 4.64 0.572 3.688 0.542 0.200 0.252 1.000 0.715 0.089 0.185 8.975 0.349 . . . 0.9848 0.8811 0.9917 0.9993 0.9999 1.0000 0.9982 0.9907 0.9548 0.9645 0.8802 0.9869 1 1 1 0.9981 0.9878 hom 1451.27 46 17 72366695 . C A 1451.27 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=31.55;VQSLOD=9.2345;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1484,117,0 17 72367973 72367973 T C exonic GPR142 nonsynonymous SNV GPR142:NM_001331076:exon4:c.T359C:p.V120A,GPR142:NM_001331077:exon4:c.T359C:p.V120A,GPR142:NM_181790:exon4:c.T623C:p.V208A 0.0016 0.0008 0.0029 . 0.005 . 0.0028 0.0013 0.0018 0 0.0006 0.0044 0.0011 0.0001 0.0039 0.0011 0.0053 . . rs148514779 . . . . . . . . . . . . . 0.019 0.501 D 0.977 0.585 D 0.814 0.651 P 0.000 0.629 D 0.995 0.423 D 2.075 0.572 M 1.15 0.382 T -2.03 0.466 N 0.723 0.723 -0.879 0.498 T 0.124 0.427 T 0.027 0.499 D 4.087 0.549 23.7 0.998 0.889 0.957 0.654 D c 0.601 0.601 1.000 0.429 0.516 0.203 0 4.99 0.658 5.808 0.686 1.049 0.752 1.000 0.715 1.000 0.888 14.435 0.667 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0028 0.0010 0.0010 0.0013 0 0.0005 0.0053 0.0024 0.0003 0.0030 0.0007 0 0.0033 0 0.0006 0.0056 0.0010 het 946.21 65 17 72367973 . T C 946.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.033;DP=65;Dels=0.00;FS=3.468;HRun=0;HaplotypeScore=1.6281;MQ=59.65;MQ0=0;MQRankSum=0.099;QD=14.56;ReadPosRankSum=0.099;VQSLOD=4.9132;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,35:65:99:976,0,720 17 72368550 72368550 T C exonic GPR142 synonymous SNV GPR142:NM_001331076:exon4:c.T936C:p.N312N,GPR142:NM_001331077:exon4:c.T936C:p.N312N,GPR142:NM_181790:exon4:c.T1200C:p.N400N 0.6 0.77 0.48 0.41 0.58 0.65 0.5901 0.7436 0.4490 0.3857 0.6110 0.5998 0.6013 0.6506 0.64 0.74 0.59 0.64 0.57 rs11658891 COSM3755823 2(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5778 0.7468 0.4580 0.6282 0.3789 0.5971 0.5931 0.5790 0.6503 0.6171 0.7396 0.4677 0.6258 0.3657 0.5939 0.5877 0.5985 hom 6284.79 185 17 72368550 . T C 6284.79 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6021;MQ=59.51;MQ0=0;QD=33.97;VQSLOD=8.4988;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:6284,494,0 17 72521897 72521897 G A exonic CD300LB synonymous SNV CD300LB:NM_174892:exon2:c.C360T:p.I120I 0.31 0.037 0.38 0.22 0.55 0.45 0.4531 0.1023 0.3239 0.2206 0.4961 0.5570 0.4834 0.4478 0.4 0.12 0.55 0.29 0.61 rs17553512 COSM4000290 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4549 0.0913 0.3388 0.5870 0.2223 0.5044 0.5573 0.4982 0.4396 0.3837 0.1040 0.3361 0.5927 0.2130 0.4960 0.5315 0.4582 het 2713.87 198 17 72521897 . G A 2713.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.564;DP=198;Dels=0.00;FS=0.604;HRun=1;HaplotypeScore=3.3199;MQ=59.58;MQ0=0;MQRankSum=1.586;QD=13.71;ReadPosRankSum=1.769;VQSLOD=5.3291;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,96:198:99:2744,0,2466 17 72539068 72539068 C T exonic CD300C synonymous SNV CD300C:NM_006678:exon3:c.G459A:p.T153T 0.11 0.37 0.032 . 0.013 0.035 0.0418 0.3089 0.0215 0.0002 0.0275 0.0119 0.0291 0.0366 0.11 0.3 0.012 0.18 0.016 rs16978106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0364 0.3097 0.0228 0.0204 0.0002 0.0277 0.0113 0.0382 0.0377 0.1009 0.3126 0.0371 0.0199 0 0.0246 0.0165 0.0305 het 946.86 73 17 72539068 . C T 946.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.207;DP=73;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7357;MQ=59.37;MQ0=0;MQRankSum=-0.350;QD=12.97;ReadPosRankSum=0.384;VQSLOD=6.2463;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,32:73:99:977,0,1139 17 72540936 72540936 G A exonic CD300C nonsynonymous SNV CD300C:NM_006678:exon2:c.C212T:p.T71I 0.099 0.32 0.039 . 0.012 0.037 0.0395 0.2573 0.0209 0.0002 0.0269 0.0151 0.0330 0.0400 0.096 0.25 0.016 0.14 0.016 rs11870245 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.996 0.832 D 0.010 0.301 N 1 0.090 P 2.99 0.860 M 3.63 0.044 T -5.9 0.888 D 0.192 0.235 -0.998 0.305 T 0.000 0.000 T . . . 3.175 0.441 22.7 0.997 0.783 0.437 0.269 N c 0.071 -0.133 1.000 0.500 0.554 0.283 0 3.36 0.374 3.907 0.558 1.048 0.713 0.943 0.325 0.004 0.083 8.908 0.345 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.0354 0.2582 0.0224 0.0373 0.0002 0.0276 0.0139 0.0383 0.0410 0.0861 0.2555 0.0346 0.0331 0 0.0246 0.0189 0.0297 het 1315.24 140 17 72540936 . G A 1315.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.208;DP=140;Dels=0.00;FS=1.363;HRun=0;HaplotypeScore=3.3904;MQ=57.07;MQ0=0;MQRankSum=-0.189;QD=9.39;ReadPosRankSum=0.240;VQSLOD=3.9852;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,56:140:99:1345,0,2307 17 72610089 72610089 C T exonic CD300E nonsynonymous SNV CD300E:NM_181449:exon3:c.G472A:p.G158R 0.22 0.095 0.26 0.079 0.41 0.3 0.3321 0.1485 0.2692 0.0833 0.4113 0.3964 0.3330 0.3316 0.32 0.16 0.4 0.28 0.38 rs1878061 COSM3755826;COSM148340 1(stomach);2(prostate);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . 0.84 0.445 P 0.166 0.334 B 0.001 0.007 U 1 0.090 P 0 0.065 N . . . . . . 0.037 0.182 -0.883 0.495 T 0.000 0.000 T . . . -0.956 0.034 0.020 0.439 0.033 0.002 0.009 N c -1.473 -1.692 1.000 0.747 0.500 0.196 0 -5.75 0.022 -2.368 0.011 -2.206 0.004 0.000 0.063 0.000 0.016 2.733 0.049 . ENSG00000261222.2 Testis 0.3318 0.1424 0.2664 0.4280 0.0806 0.3918 0.3970 0.3556 0.3252 0.3009 0.1496 0.2950 0.4664 0.0773 0.3829 0.3898 0.3200 het 418.42 38 17 72610089 . C T 418.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.231;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=-0.440;QD=11.01;ReadPosRankSum=0.910;VQSLOD=6.7767;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,17:38:99:448,0,589 17 72613589 72613589 T G exonic CD300E nonsynonymous SNV CD300E:NM_181449:exon2:c.A56C:p.K19T 0.43 0.62 0.35 0.35 0.43 0.33 0.4320 0.6000 0.3353 0.3701 0.4209 0.4483 0.4607 0.3598 0.49 0.58 0.44 0.41 0.43 rs581157 COSM4130581;COSM4130582 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid) . . . . . . . . . . . 0.469 0.085 T 0.0 0.026 B 0.0 0.013 B 0.056 0.225 N 1 0.090 P -1.27 0.007 N -0.02 0.629 T 0.89 0.016 N 0.233 0.285 -0.942 0.423 T 0.000 0.000 T . . . -1.208 0.025 0.006 0.246 0.011 0.001 0.007 N c -1.910 -1.870 1.000 0.431 0.487 0.133 0 -3.69 0.041 -3.901 0.004 -2.335 0.003 0.000 0.063 0.216 0.221 4.551 0.114 Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.4101 0.5961 0.3280 0.3938 0.3586 0.3963 0.4401 0.4034 0.3468 0.4713 0.5751 0.3313 0.3667 0.3563 0.4115 0.4484 0.4519 het 430.41 34 17 72613589 . T G 430.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9941;MQ=58.63;MQ0=0;MQRankSum=-1.294;QD=12.66;ReadPosRankSum=0.052;VQSLOD=5.6708;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,16:34:99:460,0,545 17 72691928 72691928 T C exonic CD300LF nonsynonymous SNV CD300LF:NM_001289084:exon6:c.A698G:p.Q233R,CD300LF:NM_139018:exon6:c.A653G:p.Q218R,CD300LF:NM_001289085:exon7:c.A662G:p.Q221R 0.71 0.61 0.71 0.66 0.81 0.76 0.7736 0.6318 0.6963 0.6726 0.7717 0.8200 0.7987 0.7814 0.76 0.64 0.81 0.74 0.77 rs2034310 COSM1385797;COSM1385796;COSM4130583 1(pancreas);1(thyroid) . . . . . . . . . . . 0.918 0.023 T 0.001 0.067 B 0.001 0.040 B 0.380 0.134 N 1 0.090 P . . . 0.91 0.449 T 0.37 0.036 N 0.014 0.030 -1.005 0.286 T 0.000 0.000 T . . . -1.768 0.011 0.002 0.547 0.051 0.022 0.063 N c -1.477 -1.446 0.228 0.184 0.556 0.300 0 -0.605 0.110 -0.164 0.099 -0.305 0.080 0.004 0.165 0.006 0.095 4.390 0.107 . ENSG00000186074.14|ENSG00000186074.14 Nerve_Tibial|Testis 0.7733 0.6233 0.7010 0.8834 0.6731 0.7740 0.8181 0.7888 0.7819 0.7418 0.6273 0.7220 0.8742 0.6537 0.7782 0.8066 0.7607 hom 2826.31 97 17 72691928 . T C 2826.31 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;QD=29.14;VQSLOD=8.8533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2859,241,0 17 72700943 72700943 A G exonic CD300LF nonsynonymous SNV CD300LF:NM_001289083:exon2:c.T56C:p.V19A,CD300LF:NM_001289084:exon2:c.T56C:p.V19A,CD300LF:NM_001289087:exon2:c.T56C:p.V19A,CD300LF:NM_139018:exon2:c.T56C:p.V19A,CD300LF:NM_001289082:exon3:c.T65C:p.V22A,CD300LF:NM_001289085:exon3:c.T65C:p.V22A,CD300LF:NM_001289086:exon3:c.T65C:p.V22A 0.61 0.28 0.55 0.74 0.82 0.75 0.7295 0.3467 0.4670 0.7437 0.7727 0.8148 0.7622 0.7807 0.66 0.35 0.81 0.53 0.78 rs35489971 . . . . . . . . . . . . . 1.0 0.031 T 0.002 0.102 B 0.006 0.112 B 0.074 0.023 N 1 0.090 P 0.345 0.112 N 3.65 0.049 T 1.58 0.007 N 0.014 0.006 -0.996 0.311 T 0.000 0.000 T . . . -1.534 0.016 0.002 0.545 0.050 0.000 0.004 N c -1.419 -1.434 0.000 0.050 0.487 0.133 0 0.208 0.144 0.143 0.158 0.076 0.183 0.001 0.137 0.002 0.062 3.658 0.077 Immunoglobulin-like domain ENSG00000186074.14 Testis 0.7274 0.3284 0.4947 0.8564 0.7432 0.7713 0.8146 0.7559 0.7780 0.6625 0.3484 0.5442 0.8311 0.7308 0.7772 0.8083 0.7454 hom 3313.30 97 17 72700943 . A G 3313.30 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=34.16;VQSLOD=9.7495;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:97:99:3313,259,0 17 72784932 72784932 G A exonic TMEM104 nonsynonymous SNV TMEM104:NM_001321264:exon4:c.G172A:p.V58M,TMEM104:NM_017728:exon4:c.G172A:p.V58M 0.55 0.63 0.5 0.4 0.64 0.52 0.5845 0.6414 0.4479 0.4083 0.6034 0.6336 0.5454 0.5325 0.64 0.65 0.64 0.54 0.55 rs2016126 COSM3755830 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.784 0.032 T 0.76 0.416 P 0.074 0.267 B 0.000 0.559 N 0.027 0.390 P -1.02 0.011 N 4.33 0.481 T 0.16 0.082 N 0.071 0.077 -0.959 0.393 T 0.000 0.000 T . . . -0.545 0.053 0.170 0.108 0.001 0.642 0.321 D c -0.958 -0.897 0.005 0.109 0.737 0.974 0 -1.14 0.092 2.506 0.448 -0.250 0.090 0.988 0.363 0.189 0.215 9.669 0.390 Amino acid transporter\x2c transmembrane domain ENSG00000109066.9|ENSG00000172794.15 Brain_Cerebellum|Testis 0.5781 0.6426 0.4619 0.6094 0.4032 0.6071 0.6371 0.5690 0.5273 0.6253 0.6463 0.4593 0.6722 0.4186 0.6317 0.6425 0.6189 hom 3657.07 120 17 72784932 . G A 3657.07 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4205;MQ=59.81;MQ0=0;QD=30.48;VQSLOD=8.3581;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3657,286,0 17 72851133 72851133 A G exonic GRIN2C synonymous SNV GRIN2C:NM_000835:exon2:c.T99C:p.A33A,GRIN2C:NM_001278553:exon2:c.T99C:p.A33A 0.8 0.81 0.8 0.73 0.89 0.74 0.8568 0.8237 0.7969 0.7401 0.9318 0.9029 0.8583 0.7692 0.88 0.82 0.9 0.79 0.78 rs689730 COSM1479984;COSM437342 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8542 0.8230 0.7966 0.8727 0.7380 0.9276 0.9053 0.8443 0.7703 0.8747 0.8186 0.7900 0.8709 0.7574 0.9407 0.9089 0.8829 hom 1270.28 39 17 72851133 . A G 1270.28 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7223;MQ=60.00;MQ0=0;QD=32.57;VQSLOD=8.7701;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1303,108,0 17 72916365 72916365 C T exonic USH1G nonsynonymous SNV USH1G:NM_001282489:exon2:c.G257A:p.R86Q,USH1G:NM_173477:exon2:c.G566A:p.R189Q 0.0006 0.0008 . . 0.001 0.001 0.0023 0.0004 0.0004 0 0.0002 0.0018 0.0012 0.0084 0.0013 0.0002 0.0019 . . rs201644674 . . other not_specified RCV000041422.4 MedGen CN169374 . . . . . . . . . 0.897 0.474 P 0.162 0.332 B 0.000 0.497 D 0.571 0.323 D 1.445 0.365 L . . . . . . 0.177 0.215 -0.768 0.570 T 0.164 0.501 T 0.033 0.550 D 1.074 0.197 11.07 0.977 0.351 0.661 0.327 D c -0.423 -0.432 0.061 0.152 0.598 0.340 0 2.82 0.319 2.339 0.434 0.807 0.329 1.000 0.715 1.000 0.888 5.725 0.172 . . . 0.0021 0.0003 0.0003 0.0030 5.86e-05 6.358e-05 0.0017 0.0017 0.0084 0.0009 0.0005 0 0.0033 0.0006 0 0.0015 0.0010 het 684.26 54 17 72916365 . C T 684.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.900;DP=54;Dels=0.00;FS=2.577;HRun=0;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;MQRankSum=-0.200;QD=12.67;ReadPosRankSum=1.140;VQSLOD=4.8171;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,24:54:99:714,0,786 17 72926660 72926660 C T exonic OTOP2 synonymous SNV OTOP2:NM_178160:exon6:c.C930T:p.Y310Y 0.018 0.0023 0.04 . 0.04 0.018 0.0387 0.0086 0.0516 0 0.0624 0.0455 0.0377 0.0322 0.032 0.0095 0.044 0.011 0.016 rs61746106 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0401 0.0075 0.0547 0.0671 0.0001 0.0559 0.0427 0.0372 0.0332 0.0353 0.0098 0.0370 0.0695 0 0.0594 0.0464 0.0541 het 1314.80 71 17 72926660 . C T 1314.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.648;DP=71;Dels=0.00;FS=12.260;HRun=0;HaplotypeScore=2.7196;MQ=59.41;MQ0=0;MQRankSum=-0.576;QD=18.52;ReadPosRankSum=-0.355;VQSLOD=2.8061;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,45:71:99:1345,0,600 17 72927123 72927123 G T exonic OTOP2 nonsynonymous SNV OTOP2:NM_178160:exon6:c.G1393T:p.G465W 0.54 0.25 0.66 0.56 0.66 0.72 0.6390 0.3096 0.7109 0.5588 0.7393 0.6587 0.6476 0.7164 0.53 0.32 0.64 0.46 0.66 rs6501741 . . . . . . . . . . . . . 0.014 0.531 D 0.993 0.637 D 0.663 0.511 P 0.661 0.060 N 1 0.090 P 1.04 0.263 L 2.79 0.112 T -3.33 0.662 D 0.065 0.202 -0.966 0.381 T 0.000 0.000 T . . . 0.444 0.137 6.988 0.770 0.113 0.103 0.156 N c -1.240 -1.385 0.435 0.204 0.516 0.203 0 -2.23 0.065 -0.140 0.102 -1.500 0.010 0.000 0.063 0.010 0.111 7.211 0.250 . . . 0.6466 0.3067 0.7085 0.5665 0.5550 0.7395 0.6586 0.6254 0.7172 0.5745 0.3173 0.6679 0.5265 0.5578 0.7503 0.6723 0.7018 hom 5625.66 180 17 72927123 . G T 5625.66 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.535;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3012;MQ=59.43;MQ0=0;MQRankSum=1.496;QD=31.25;ReadPosRankSum=-1.240;VQSLOD=7.1819;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,178:180:99:5595,410,0 17 72937605 72937605 G A exonic OTOP3 nonsynonymous SNV OTOP3:NM_001272005:exon2:c.G137A:p.R46Q,OTOP3:NM_178233:exon2:c.G191A:p.R64Q 0.56 0.34 0.69 0.57 0.73 0.6 0.6686 0.4061 0.6780 0.5918 0.7656 0.7193 0.6854 0.6192 0.61 0.41 0.72 0.39 0.55 rs7210616 COSM330355 2(haematopoietic_and_lymphoid_tissue);1(prostate);2(large_intestine) . . . . . . . . . . . 0.642 0.050 T 0.008 0.135 B 0.001 0.040 B 0.023 0.016 N 1 0.090 P 0.11 0.085 N 3.05 0.087 T -0.1 0.085 N 0.042 0.022 -0.988 0.332 T 0.000 0.000 T . . . -0.937 0.034 0.022 0.783 0.118 0.017 0.054 N c -1.927 -2.042 0.856 0.251 0.497 0.185 0 -9.71 0.004 -2.353 0.012 -1.186 0.016 0.000 0.063 0.016 0.126 7.185 0.248 . . . 0.6725 0.3934 0.6698 0.5835 0.5814 0.7664 0.7286 0.6744 0.6225 0.6357 0.4049 0.6671 0.57 0.5750 0.7797 0.7372 0.7127 hom 909.05 29 17 72937605 . G A 909.05 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=31.35;VQSLOD=9.6460;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:75.23:942,75,0 17 72937851 72937851 G A exonic OTOP3 nonsynonymous SNV OTOP3:NM_001272005:exon2:c.G383A:p.R128Q,OTOP3:NM_178233:exon2:c.G437A:p.R146Q 0.65 0.49 0.77 0.73 0.69 0.66 0.6817 0.5351 0.8121 0.7003 0.7573 0.6714 0.7053 0.6828 0.63 0.55 0.67 0.62 0.59 rs9890664 COSM4130594 1(thyroid) . . . . . . . . . . . 0.666 0.046 T 0.0 0.026 B 0.001 0.040 B 0.982 0.081 N 1 0.090 P 0 0.065 N 3.17 0.076 T 0.47 0.031 N 0.016 0.003 -1.005 0.284 T 0.000 0.000 T . . . -0.816 0.039 0.039 0.768 0.112 0.015 0.048 N c -1.564 -1.621 0.002 0.095 0.516 0.203 0 -6.34 0.018 -0.111 0.107 -0.630 0.042 0.000 0.063 0.000 0.016 9.655 0.389 . . . 0.6895 0.5411 0.8001 0.5891 0.7063 0.7519 0.6735 0.6841 0.6793 0.6553 0.5491 0.7644 0.5533 0.6996 0.7545 0.6817 0.7059 het 1226.03 82 17 72937851 . G A 1226.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.200;DP=82;Dels=0.00;FS=3.518;HRun=1;HaplotypeScore=3.4308;MQ=59.72;MQ0=0;MQRankSum=0.565;QD=14.95;ReadPosRankSum=-1.247;VQSLOD=5.6709;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,46:82:99:1256,0,931 17 72938100 72938100 T C exonic OTOP3 nonsynonymous SNV OTOP3:NM_001272005:exon3:c.T541C:p.S181P,OTOP3:NM_178233:exon3:c.T595C:p.S199P 0.91 0.95 0.9 0.96 0.84 0.85 0.8660 0.9461 0.9273 0.9517 0.8955 0.8278 0.8684 0.8696 0.87 0.94 0.83 0.91 0.8 rs1542752 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.192 P -2.52 0.001 N 3.47 0.052 T 6.82 0.000 N 0.084 0.078 -1.015 0.254 T 0.000 0.000 T . . . 0.091 0.102 3.512 0.189 0.006 0.020 0.060 N c -1.138 -0.902 0.000 0.069 0.516 0.203 0 3.65 0.408 2.369 0.436 0.015 0.141 1.000 0.715 0.797 0.335 7.134 0.245 . . . 0.8681 0.9485 0.9150 0.7611 0.9529 0.8999 0.8330 0.8476 0.8711 0.8876 0.9457 0.9045 0.7351 0.9433 0.8986 0.8487 0.8671 hom 3602.35 117 17 72938100 . T C 3602.35 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5544;MQ=58.76;MQ0=0;QD=30.79;VQSLOD=9.0251;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:117:99:3602,274,0 17 72943126 72943126 G A exonic OTOP3 synonymous SNV OTOP3:NM_001272005:exon6:c.G1122A:p.A374A,OTOP3:NM_178233:exon6:c.G1176A:p.A392A 0.29 0.17 0.49 0.066 0.51 0.32 0.4232 0.2200 0.4613 0.0807 0.4904 0.5065 0.4513 0.3391 . . . 0.26 0.48 rs8066909 COSM437353 1(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4272 0.2180 0.4583 0.4014 0.0781 0.4931 0.5123 0.4531 0.3407 0.4021 0.2358 0.4450 0.3377 0.0834 0.4945 0.5060 0.4754 het 1587.31 101 17 72943126 . G A 1587.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.857;DP=101;Dels=0.00;FS=10.178;HRun=0;HaplotypeScore=1.8100;MQ=59.77;MQ0=0;MQRankSum=0.302;QD=15.72;ReadPosRankSum=1.087;VQSLOD=4.3974;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,56:101:99:1617,0,1101 17 72948369 72948369 A G exonic HID1 synonymous SNV HID1:NM_030630:exon17:c.T2139C:p.I713I 0.95 0.91 0.98 1. 0.96 0.94 0.9533 0.9142 0.9738 0.9998 0.9552 0.9513 0.9633 0.9461 0.94 0.92 0.95 0.95 0.89 rs17853024 COSM4130597 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9552 0.9130 0.9739 0.9292 0.9998 0.9535 0.9535 0.9525 0.9465 0.9434 0.9200 0.9665 0.9570 0.9988 0.9534 0.9469 0.9455 hom 984.56 36 17 72948369 . A G 984.56 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.92;MQ0=0;QD=27.35;VQSLOD=7.8081;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:90.20:1018,90,0 17 72952017 72952017 A G exonic HID1 synonymous SNV HID1:NM_030630:exon13:c.T1506C:p.T502T 0.92 0.79 0.97 1. 0.96 0.94 0.9453 0.8145 0.9718 0.9990 0.9569 0.9527 0.9503 0.9459 0.91 0.81 0.95 0.87 0.93 rs9906160 COSM4130598 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9491 0.8116 0.9709 0.9344 0.9987 0.9553 0.9545 0.9520 0.9457 0.9144 0.8179 0.9654 0.9636 0.9981 0.9539 0.9467 0.9376 hom 3647.26 116 17 72952017 . A G 3647.26 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3614;MQ=59.04;MQ0=0;QD=31.44;VQSLOD=9.1143;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3647,295,0 17 73000061 73000061 A G exonic CDR2L synonymous SNV CDR2L:NM_014603:exon5:c.A1290G:p.E430E 0.47 0.75 0.51 0.19 0.42 0.38 0.4458 0.7367 0.5384 0.2240 0.4533 0.4115 0.4503 0.4369 0.49 0.69 0.39 0.48 . rs3744203 COSM437358 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4119 0.7274 0.5049 0.3511 0.1901 0.4200 0.3818 0.4045 0.4067 0.4796 0.7112 0.5286 0.4073 0.1915 0.4183 0.3930 0.4192 het 432.52 25 17 73000061 . A G 432.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.385;DP=25;Dels=0.00;FS=13.063;HRun=0;HaplotypeScore=0.8941;MQ=59.07;MQ0=0;MQRankSum=0.179;QD=17.30;ReadPosRankSum=0.656;VQSLOD=3.9728;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,16:25:99:463,0,247 17 73016621 73016621 C T exonic MRPL58 synonymous SNV MRPL58:NM_001303265:exon5:c.C405T:p.L135L,MRPL58:NM_001545:exon5:c.C405T:p.L135L 0.32 0.33 0.46 0.19 0.36 0.3 0.3240 0.3457 0.4571 0.1959 0.3380 0.3108 0.3422 0.3308 0.32 0.33 0.32 0.36 0.42 rs1044228 COSM3755838 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3305 0.3480 0.4543 0.3047 0.1929 0.3403 0.3121 0.3333 0.3318 0.3229 0.3419 0.4629 0.3642 0.1911 0.3374 0.3134 0.3303 het 863.17 77 17 73016621 . C T 863.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.096;DP=77;Dels=0.00;FS=6.737;HRun=1;HaplotypeScore=6.2580;MQ=59.46;MQ0=0;MQRankSum=0.201;QD=11.21;ReadPosRankSum=-1.261;VQSLOD=4.4924;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,33:77:99:893,0,1178 17 73089852 73089852 T C exonic SLC16A5 synonymous SNV SLC16A5:NM_001271765:exon3:c.T121C:p.L41L,SLC16A5:NM_004695:exon3:c.T121C:p.L41L 0.63 0.72 0.64 0.34 0.71 0.69 0.6986 0.7352 0.6121 0.3527 0.8146 0.7293 0.7280 0.7444 0.73 0.74 0.73 0.61 0.78 rs4788863 COSM1479991;COSM437360 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6959 0.7413 0.6186 0.6817 0.3435 0.8116 0.7320 0.7080 0.7425 0.7321 0.7492 0.6388 0.6788 0.3428 0.8109 0.7514 0.7449 het 4057.38 243 17 73089852 . T C 4057.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.211;DP=243;Dels=0.00;FS=4.434;HRun=0;HaplotypeScore=4.3460;MQ=59.31;MQ0=0;MQRankSum=-0.036;QD=16.70;ReadPosRankSum=-2.973;VQSLOD=3.5453;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:114,129:243:99:3455,0,3000 17 73221439 73221439 C T exonic NUP85 synonymous SNV NUP85:NM_001303276:exon8:c.C597T:p.P199P,NUP85:NM_001330472:exon8:c.C600T:p.P200P,NUP85:NM_024844:exon9:c.C735T:p.P245P 0.87 0.69 0.92 0.9 1. 0.91 0.9558 0.7344 0.9513 0.9340 1 0.9980 0.9703 0.9207 0.91 0.75 1. 0.83 0.99 rs2291029 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9599 0.7305 0.9492 0.9983 0.9305 1.0000 0.9979 0.9719 0.9207 0.9199 0.7379 0.9582 0.9967 0.9327 1 0.9985 0.9724 hom 2553.25 76 17 73221439 . C T 2553.25 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9912;MQ=58.96;MQ0=0;QD=33.60;VQSLOD=8.0234;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2586,214,0 17 73279624 73279624 A G exonic SLC25A19 synonymous SNV SLC25A19:NM_001126122:exon4:c.T339C:p.Y113Y,SLC25A19:NM_001126121:exon5:c.T339C:p.Y113Y,SLC25A19:NM_021734:exon5:c.T339C:p.Y113Y 0.89 0.76 0.92 0.9 1. 0.92 0.9617 0.8112 0.9511 0.9266 1 0.9978 0.9722 0.9197 0.94 0.82 1. 0.86 0.98 rs7213318 COSM4130610 2(thyroid);1(large_intestine) Likely benign|Likely benign not_specified|Amish_lethal_microcephaly RCV000118368.2|RCV000334842.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1846648:607196:ORPHA99742 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9642 0.8083 0.9505 0.9936 0.9220 1.0000 0.9979 0.9742 0.9203 0.9420 0.8166 0.9666 0.9934 0.9252 1 0.9986 0.9725 hom 1255.64 47 17 73279624 . A G 1255.64 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.80;MQ0=0;QD=26.72;VQSLOD=7.4772;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1289,105,0 17 73485707 73485707 G A exonic TMEM94 synonymous SNV TMEM94:NM_001321148:exon8:c.G948A:p.G316G,TMEM94:NM_001351203:exon8:c.G948A:p.G316G,TMEM94:NM_001321149:exon9:c.G918A:p.G306G,TMEM94:NM_001351202:exon9:c.G918A:p.G306G,TMEM94:NM_014738:exon9:c.G918A:p.G306G 0.035 0.039 0.037 0.001 0.075 0.02 0.0366 0.0372 0.0319 0.0005 0.0292 0.0468 0.0510 0.0194 0.051 0.042 0.056 0.011 0.074 rs34364349 COSM3755842 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0374 0.0386 0.0319 0.0646 0.0003 0.0282 0.0486 0.0480 0.0192 0.0384 0.0344 0.0346 0.0497 0 0.0292 0.0473 0.0356 het 1893.14 167 17 73485707 . G A 1893.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.426;DP=167;Dels=0.00;FS=0.590;HRun=0;HaplotypeScore=2.9773;MQ=59.72;MQ0=0;MQRankSum=-0.310;QD=11.34;ReadPosRankSum=1.290;VQSLOD=5.8643;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,79:167:99:1923,0,2276 17 73487533 73487533 C T exonic TMEM94 synonymous SNV TMEM94:NM_001321148:exon12:c.C1413T:p.P471P,TMEM94:NM_001351203:exon12:c.C1413T:p.P471P,TMEM94:NM_001321149:exon13:c.C1383T:p.P461P,TMEM94:NM_001351202:exon13:c.C1383T:p.P461P,TMEM94:NM_014738:exon13:c.C1383T:p.P461P 0.045 0.075 0.043 0.001 0.076 0.02 0.0398 0.0715 0.0339 0.0005 0.0292 0.0470 0.0543 0.0194 0.062 0.074 0.056 0.033 0.074 rs76073955 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0400 0.0730 0.0342 0.0646 0.0003 0.0283 0.0488 0.0495 0.0193 0.0489 0.0703 0.0382 0.05 0 0.0295 0.0475 0.0367 het 1635.93 115 17 73487533 . C T 1635.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.287;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0929;MQ=59.03;MQ0=0;MQRankSum=1.263;QD=14.23;ReadPosRankSum=0.099;VQSLOD=4.5153;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,61:115:99:1666,0,1454 17 73488794 73488794 C T exonic TMEM94 synonymous SNV TMEM94:NM_001321148:exon14:c.C1866T:p.I622I,TMEM94:NM_001351203:exon14:c.C1866T:p.I622I,TMEM94:NM_001321149:exon15:c.C1848T:p.I616I,TMEM94:NM_001351202:exon15:c.C1788T:p.I596I,TMEM94:NM_014738:exon15:c.C1836T:p.I612I 0.64 0.53 0.57 0.47 0.82 0.82 0.7554 0.5613 0.4535 0.4502 0.8462 0.8464 0.7688 0.8435 0.75 0.56 0.84 0.73 0.8 rs4078259 COSM3755843 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7469 0.5515 0.4739 0.7794 0.4530 0.8465 0.8517 0.7574 0.8448 0.7385 0.5671 0.5396 0.7715 0.4646 0.8416 0.8479 0.8320 het 2806.81 206 17 73488794 . C T 2806.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.961;DP=206;Dels=0.00;FS=8.016;HRun=1;HaplotypeScore=2.9769;MQ=59.59;MQ0=0;MQRankSum=1.090;QD=13.63;ReadPosRankSum=-1.268;VQSLOD=4.5920;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:107,99:206:99:2837,0,2785 17 73512884 73512884 T G exonic TSEN54 nonsynonymous SNV TSEN54:NM_207346:exon2:c.T114G:p.H38Q 0.16 0.35 0.11 0.03 0.14 0.11 0.1370 0.3415 0.0752 0.0165 0.1350 0.1518 0.1321 0.1032 0.14 0.23 0.099 0.011 0.098 rs8079373 COSM4130620 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Pontoneocerebellar_hypoplasia RCV000082835.7|RCV000352813.1 MedGen|MedGen:SNOMED_CT CN169374|C1261175:373666002 . . . . . . 0.114 0.286 T 0.244 0.689 B 0.075 0.636 B 0.003 0.360 N 0.017 0.400 P 1.935 0.520 L 0.45 0.565 T -1.51 0.368 N 0.124 0.260 -0.995 0.313 T 0.000 0.000 T . . . 3.429 0.470 23.0 0.922 0.209 0.239 0.220 N c -0.073 -0.034 1.000 0.747 0.767 0.994 0 2.93 0.329 0.442 0.212 0.961 0.567 1.000 0.715 1.000 0.888 7.747 0.279 . ENSG00000182173.8|ENSG00000182173.8 Esophagus_Muscularis|Testis 0.1209 0.3158 0.0813 0.1562 0.0161 0.1074 0.1361 0.1342 0.0946 0.1838 0.3371 0.1022 0.1933 0.0148 0.1107 0.1372 0.1393 het 143.07 19 17 73512884 . T G 143.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.188;DP=19;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9967;MQ=58.01;MQ0=0;MQRankSum=1.528;QD=7.53;ReadPosRankSum=-0.206;VQSLOD=5.1473;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,8:19:99:173,0,277 17 73513289 73513289 C G exonic TSEN54 synonymous SNV TSEN54:NM_207346:exon4:c.C333G:p.R111R 0.16 0.35 0.11 0.03 0.14 0.11 0.1816 0.3889 0.1169 0.0254 0.1801 0.1925 0.1641 0.1170 0.2 0.33 0.13 0.23 0.14 rs6501818 . . Benign|Benign not_specified|Pontoneocerebellar_hypoplasia RCV000147781.3|RCV000354994.1 MedGen|MedGen:SNOMED_CT CN169374|C1261175:373666002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1261 0.3311 0.0828 0.1595 0.0165 0.1111 0.1385 0.1350 0.0971 0.1832 0.3355 0.1031 0.1954 0.0148 0.1103 0.1371 0.1395 het 163.89 13 17 73513289 . C G 163.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.271;DP=13;Dels=0.00;FS=2.158;HRun=1;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.533;QD=12.61;ReadPosRankSum=0.212;VQSLOD=5.2104;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,8:13:99:194,0,134 17 73518203 73518203 G C exonic TSEN54 nonsynonymous SNV TSEN54:NM_207346:exon8:c.G1041C:p.K347N 0.44 0.13 0.43 0.44 0.68 0.64 0.6414 0.2678 0.4666 0.5197 0.7088 0.7034 0.6547 0.6827 0.54 0.23 0.7 0.4 0.42 rs9911502 COSM437385 1(thyroid) Benign|Benign not_specified|Pontoneocerebellar_hypoplasia RCV000147767.5|RCV000295979.1 MedGen|MedGen:SNOMED_CT CN169374|C1261175:373666002 . . . . . . 0.047 0.403 D 0.969 0.548 D 0.642 0.503 P 0.000 0.629 D 0.001 0.472 P 2.8 0.819 M 0.18 0.604 T -2.36 0.521 N 0.081 0.074 -0.942 0.423 T 0.000 0.000 T . . . 5.458 0.741 26.1 0.947 0.248 0.927 0.560 D c 0.390 0.367 1.000 0.747 0.706 0.609 0 4.5 0.542 3.941 0.561 0.940 0.530 1.000 0.715 0.895 0.377 13.893 0.631 . ENSG00000073350.9|ENSG00000073350.9|ENSG00000073350.9|ENSG00000073350.9|ENSG00000073350.9|ENSG00000177303.5|ENSG00000182173.8|ENSG00000073350.9|ENSG00000125457.9 Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Stomach|Testis|Testis|Whole_Blood 0.5863 0.1893 0.3693 0.5857 0.4354 0.6973 0.6903 0.5895 0.6651 0.5336 0.2098 0.4019 0.5530 0.4635 0.7008 0.6914 0.6350 het 214.55 14 17 73518203 . G C 214.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.778;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=60.00;MQ0=0;MQRankSum=-0.919;QD=15.32;ReadPosRankSum=-1.061;VQSLOD=5.7619;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,10:14:99:245,0,119 17 73519413 73519413 C T exonic TSEN54 nonsynonymous SNV TSEN54:NM_207346:exon9:c.C1310T:p.A437V 0.56 0.55 0.46 0.44 0.68 0.64 0.6241 0.5788 0.3725 0.4407 0.6925 0.6811 0.6200 0.6678 0.66 0.58 0.7 0.55 0.61 rs8064529 COSM4965469 1(pancreas) Benign|Benign not_specified|Pontoneocerebellar_hypoplasia RCV000147771.2|RCV000304359.1 MedGen|MedGen:SNOMED_CT CN169374|C1261175:373666002 . . . . . . 0.489 0.080 T 0.698 0.399 P 0.118 0.305 B 0.183 0.171 N 1 0.090 P 2.44 0.710 M -0.1 0.643 T -1.42 0.350 N 0.02 0.004 -0.921 0.455 T 0.000 0.000 T . . . 3.427 0.470 23.0 0.821 0.135 0.134 0.176 N c -0.463 -0.534 0.793 0.240 0.707 0.730 0 0.513 0.161 0.442 0.212 0.020 0.144 0.136 0.232 0.866 0.362 5.748 0.173 . ENSG00000073350.9|ENSG00000073350.9|ENSG00000073350.9|ENSG00000073350.9|ENSG00000073350.9|ENSG00000073350.9|ENSG00000073350.9|ENSG00000073350.9|ENSG00000177303.5|ENSG00000182173.8|ENSG00000182173.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Ovary|Stomach|Testis|Thyroid 0.6175 0.5814 0.3880 0.5929 0.4406 0.6968 0.6917 0.6163 0.6661 0.6416 0.5842 0.4329 0.5596 0.4591 0.7009 0.6932 0.6564 het 2232.40 173 17 73519413 . C T 2232.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.670;DP=173;DS;Dels=0.00;FS=1.254;HRun=0;HaplotypeScore=5.8516;MQ=59.28;MQ0=0;MQRankSum=-0.519;QD=12.90;ReadPosRankSum=-0.254;VQSLOD=5.1227;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,92:173:99:2262,0,2185 17 73552185 73552185 G A exonic LLGL2 nonsynonymous SNV LLGL2:NM_001015002:exon3:c.G134A:p.R45H,LLGL2:NM_001031803:exon3:c.G134A:p.R45H,LLGL2:NM_004524:exon3:c.G134A:p.R45H 0.41 0.12 0.38 0.47 0.56 0.61 0.5026 0.1654 0.3400 0.4534 0.5416 0.5544 0.4855 0.6277 0.42 0.18 0.55 0.33 0.53 rs1671036 COSM3755846;COSM3755848;COSM3755847 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.069 0.355 T 0.054 0.212 B 0.031 0.206 B 0.014 0.287 N 0.872 0.282 P 0.49 0.133 N -0.16 0.654 T -2.66 0.628 D 0.176 0.235 -0.921 0.454 T 0.000 0.000 T . . . 2.116 0.315 16.96 0.917 0.204 0.581 0.303 D c -0.477 -0.389 1.000 0.436 0.696 0.567 0 3.58 0.400 1.423 0.342 0.953 0.551 0.841 0.301 0.881 0.369 9.608 0.386 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000073350.9 Artery_Tibial 0.5019 0.1555 0.3494 0.5662 0.4499 0.5402 0.5552 0.5231 0.6267 0.4259 0.1673 0.3813 0.5728 0.4721 0.5187 0.5458 0.4794 het 1596.05 129 17 73552185 . G A 1596.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.004;DP=129;Dels=0.00;FS=3.267;HRun=0;HaplotypeScore=2.5575;MQ=59.82;MQ0=0;MQRankSum=1.246;QD=12.37;ReadPosRankSum=0.755;VQSLOD=6.1347;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,64:129:99:1626,0,1553 17 73559441 73559441 C T exonic LLGL2 synonymous SNV LLGL2:NM_001015002:exon8:c.C723T:p.D241D,LLGL2:NM_001031803:exon8:c.C723T:p.D241D,LLGL2:NM_004524:exon8:c.C723T:p.D241D 0.014 0.0068 0.01 . 0.048 0.0082 0.0192 0.0097 0.0195 0.0004 0.0219 0.0250 0.0316 0.0097 0.022 0.012 0.028 0.011 0.0082 rs34158736 COSM3755850;COSM3755849;COSM3755851 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0199 0.0095 0.0184 0.0582 0.0002 0.0213 0.0238 0.0278 0.0091 0.0178 0.0100 0.0191 0.0464 0 0.0198 0.0233 0.0153 het 511.09 44 17 73559441 . C T 511.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.339;DP=44;Dels=0.00;FS=2.709;HRun=0;HaplotypeScore=0.9958;MQ=60.00;MQ0=0;MQRankSum=1.175;QD=11.62;ReadPosRankSum=-0.352;VQSLOD=5.6486;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,21:44:99:541,0,564 17 73565171 73565171 T C exonic LLGL2 nonsynonymous SNV LLGL2:NM_001031803:exon13:c.T1435C:p.F479L,LLGL2:NM_004524:exon13:c.T1435C:p.F479L 0.46 0.91 0.34 0.26 0.37 0.26 0.3773 0.8379 0.2531 0.1980 0.3409 0.3814 0.4086 0.2635 0.53 0.82 0.39 0.59 0.34 rs1671021 COSM4998302;COSM4998303 2(pancreas) . . . . . . . . . . . 0.788 0.032 T 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 0.999 0.216 P -1.95 0.002 N 2.97 0.095 T 1.31 0.009 N 0.101 0.104 -1.019 0.241 T 0.000 0.000 T . . . 0.764 0.167 9.237 0.965 0.294 0.563 0.298 D c -0.787 -0.561 0.000 0.059 0.696 0.567 0 4.33 0.509 2.054 0.407 0.069 0.176 1.000 0.715 0.956 0.434 2.731 0.049 WD40-repeat-containing domain ENSG00000073350.9|ENSG00000073350.9 Cells_EBV-transformed_lymphocytes|Whole_Blood 0.3603 0.8448 0.2642 0.4118 0.2011 0.3277 0.3768 0.3584 0.2635 0.4949 0.8324 0.3086 0.4040 0.1965 0.3594 0.3798 0.4134 hom 1051.72 33 17 73565171 . T C 1051.72 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.87;VQSLOD=13.9547;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:84.26:1085,84,0 17 73567846 73567846 C T exonic LLGL2 nonsynonymous SNV LLGL2:NM_001031803:exon18:c.C2275T:p.P759S,LLGL2:NM_004524:exon18:c.C2275T:p.P759S 0.31 0.59 0.24 0.15 0.28 0.17 0.2769 0.5622 0.1973 0.1214 0.2836 0.2918 0.3048 0.1750 0.38 0.55 0.3 0.46 0.25 rs1661715 COSM437389;COSM1480007 1(haematopoietic_and_lymphoid_tissue);1(pancreas);2(large_intestine) . . . . . . . . . . . 0.424 0.119 T 0.434 0.367 B 0.166 0.397 B 0.000 0.513 D 0.052 0.376 P 2.015 0.552 M 3.14 0.079 T -1.64 0.393 N 0.103 0.232 -1.082 0.069 T 0.000 0.000 T . . . 2.298 0.337 18.15 0.950 0.254 0.810 0.402 D c -0.080 0.016 1.000 0.747 0.696 0.567 0 4.41 0.524 2.508 0.449 0.058 0.164 0.893 0.310 0.652 0.299 10.960 0.464 . . . 0.2665 0.5617 0.2059 0.2687 0.1220 0.2812 0.2892 0.2584 0.1783 0.3579 0.5526 0.2440 0.2616 0.1120 0.3116 0.2925 0.3217 het 626.21 61 17 73567846 . C T 626.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.662;DP=61;Dels=0.00;FS=7.146;HRun=0;HaplotypeScore=0.7887;MQ=58.55;MQ0=0;MQRankSum=-1.678;QD=10.27;ReadPosRankSum=-0.932;VQSLOD=3.6886;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,27:61:99:656,0,965 17 73570718 73570718 C G exonic LLGL2 nonsynonymous SNV LLGL2:NM_004524:exon24:c.C2981G:p.P994R 0.32 0.61 0.24 0.15 0.28 0.17 0.2863 0.5911 0.2050 0.1279 0.3099 0.2976 0.3094 0.1807 0.39 0.58 0.29 0.47 0.26 rs1126939 . . . . . . . . . . . . . 0.704 0.041 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 3.53 0.049 T -0.21 0.103 N . . -1.042 0.167 T 0.000 0.000 T . . . 1.403 0.232 12.80 0.955 0.264 0.001 0.004 N c -1.032 -1.086 0.000 0.029 0.696 0.567 0 0.022 0.134 -0.381 0.074 0.049 0.161 0.000 0.063 0.020 0.134 4.422 0.108 . ENSG00000073350.9 Cells_EBV-transformed_lymphocytes 0.2675 0.5834 0.2057 0.2688 0.1241 0.2822 0.2882 0.2605 0.1778 0.3645 0.5744 0.2452 0.2616 0.1165 0.3128 0.2925 0.3265 het 297.29 31 17 73570718 . C G 297.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.640;DP=31;Dels=0.00;FS=8.695;HRun=1;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;MQRankSum=-0.888;QD=9.59;ReadPosRankSum=-0.310;VQSLOD=4.0899;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,11:31:99:327,0,563 17 73625430 73625430 G A exonic RECQL5 synonymous SNV RECQL5:NM_004259:exon16:c.C2073T:p.H691H 0.53 0.14 0.65 0.81 0.6 0.59 0.6127 0.2142 0.7324 0.8209 0.6530 0.6101 0.6008 0.6013 0.48 0.2 0.6 0.43 0.49 rs4788902 COSM3755854;COSM4783625 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6093 0.2023 0.7082 0.4623 0.8168 0.6394 0.6105 0.6187 0.6010 0.5025 0.2075 0.6507 0.4834 0.8189 0.6151 0.6010 0.5789 hom 1079.63 39 17 73625430 . G A 1079.63 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8773;MQ=59.41;MQ0=0;QD=27.68;VQSLOD=7.0276;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:93.24:1113,93,0 17 73625478 73625478 T C exonic RECQL5 synonymous SNV RECQL5:NM_004259:exon16:c.A2025G:p.T675T 0.99 0.96 0.99 1. 1. 1. 0.9968 0.9637 0.9986 1 1 0.9999 0.9974 0.9999 0.99 0.97 1. 0.98 0.98 rs820191 COSM4130629 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9613 0.9980 1 1 1 0.9999 0.9988 0.9999 0.9894 0.9629 1 1 1 1 0.9999 0.9959 hom 1913.94 62 17 73625478 . T C 1913.94 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=30.87;VQSLOD=8.9032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1947,168,0 17 73627565 73627565 A G exonic RECQL5 synonymous SNV RECQL5:NM_004259:exon9:c.T1413C:p.Y471Y 0.99 0.96 0.99 1. 1. 1. 0.9968 0.9633 0.9985 1 1 0.9999 0.9978 0.9999 0.99 0.97 1. 0.95 1. rs820197 COSM4130630 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9973 0.9608 0.9983 1 1 1 0.9999 0.9989 1.0000 0.9890 0.9615 1 1 1 1 0.9999 0.9959 hom 5060.13 163 17 73627565 . A G 5060.13 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8487;MQ=59.55;MQ0=0;QD=31.04;VQSLOD=8.2614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5059,418,0 17 73753098 73753098 G A exonic ITGB4 nonsynonymous SNV ITGB4:NM_001005619:exon37:c.G5077A:p.V1693M,ITGB4:NM_001005731:exon37:c.G4918A:p.V1640M,ITGB4:NM_001321123:exon37:c.G4918A:p.V1640M,ITGB4:NM_000213:exon38:c.G5128A:p.V1710M . . . . . . 5.018e-05 9.889e-05 0 0 0 7.643e-05 0 0 . . . . . rs747376161 . . . . . . . . . . . . . 0.146 0.337 T 0.932 0.550 P 0.389 0.511 B 0.003 0.359 N 1 0.810 D 1.615 0.415 L 0.43 0.568 T -0.87 0.236 N 0.361 0.422 -0.972 0.367 T 0.134 0.448 T 0.019 0.408 T 2.972 0.418 22.1 0.950 0.253 0.382 0.257 N c -0.046 -0.040 1.000 0.747 0.651 0.465 0 2.98 0.334 0.903 0.279 1.045 0.669 0.902 0.312 0.993 0.574 8.479 0.320 Fibronectin type III|Immunoglobulin-like fold . . 4.887e-05 0 0 0 0 4.493e-05 8.991e-05 0 3.249e-05 9.738e-05 0 0 0 0 0 0.0001 0.0010 het 993.32 65 17 73753098 . G A 993.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.002;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.112;QD=15.28;ReadPosRankSum=-0.983;VQSLOD=10.5342;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,36:65:99:1023,0,743 17 73753503 73753503 T C exonic ITGB4 nonsynonymous SNV ITGB4:NM_001005619:exon39:c.T5285C:p.L1762P,ITGB4:NM_001005731:exon39:c.T5126C:p.L1709P,ITGB4:NM_001321123:exon39:c.T5126C:p.L1709P,ITGB4:NM_000213:exon40:c.T5336C:p.L1779P 0.57 0.15 0.76 0.63 0.79 0.72 0.7144 0.2505 0.8016 0.6420 0.8069 0.7683 0.7222 0.7262 0.6 0.28 0.77 0.54 0.77 rs871443 COSM3722198;COSM3722197 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(upper_aerodigestive_tract) Benign|Benign|Benign not_specified|Epidermolysis_bullosa_junctionalis_with_pyloric_atresia|Deficiency_of_galactokinase RCV000247515.1|RCV000294224.1|RCV000322321.1 MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1856934:226730:ORPHA79403|C0268155:230200:ORPHA79237:124302001 . . . . . . 0.097 0.327 T 0.998 0.715 D 0.958 0.683 D 0.002 0.366 N 0.000 0.588 P 1.1 0.281 L -1.26 0.792 T -2.27 0.506 N 0.45 0.565 -0.927 0.446 T 0.000 0.000 T . . . 5.453 0.740 26.1 0.917 0.204 0.911 0.525 D c 0.323 0.237 1.000 0.747 0.554 0.283 0 4.17 0.481 3.776 0.548 0.964 0.580 1.000 0.715 0.484 0.268 13.221 0.591 Fibronectin type III|Immunoglobulin-like fold . . 0.7263 0.2431 0.7930 0.6706 0.6376 0.8097 0.7745 0.7373 0.7233 0.6340 0.2631 0.7710 0.7086 0.6452 0.8041 0.7918 0.7510 hom 2084.85 64 17 73753503 . T C 2084.85 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9523;MQ=57.28;MQ0=0;QD=32.58;VQSLOD=7.2167;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2118,177,0 17 73812909 73812909 A G exonic UNK synonymous SNV UNK:NM_001080419:exon8:c.A1020G:p.P340P 0.82 0.75 0.92 0.62 0.96 0.93 0.9038 0.7725 0.8816 0.6130 0.9533 0.9494 0.9056 0.9425 0.9 0.79 0.95 0.84 . rs9908146 COSM3755860;COSM3755859 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9046 0.7690 0.8865 0.9083 0.6177 0.9548 0.9531 0.9218 0.9415 0.8858 0.7777 0.8959 0.9503 0.6329 0.9527 0.9544 0.9460 hom 1211.11 45 17 73812909 . A G 1211.11 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7825;MQ=59.17;MQ0=0;QD=26.91;VQSLOD=7.8261;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:96.29:1244,96,0 17 73816026 73816026 A G exonic UNK synonymous SNV UNK:NM_001080419:exon13:c.A1674G:p.A558A 0.86 0.84 0.92 0.7 0.96 0.93 0.9151 0.8510 0.8830 0.6671 0.9531 0.9504 0.9182 0.9454 0.92 0.86 0.96 0.85 . rs11868471 COSM3755862;COSM3755861 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9166 0.8499 0.8897 0.9220 0.6824 0.9561 0.9535 0.9269 0.9442 0.9127 0.8570 0.9029 0.9603 0.6991 0.9542 0.9554 0.9532 hom 1022.13 33 17 73816026 . A G 1022.13 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.97;VQSLOD=13.8630;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:93.25:1055,93,0 17 73824121 73824121 T C exonic UNC13D synonymous SNV UNC13D:NM_199242:exon32:c.A3198G:p.E1066E 0.53 0.96 0.34 0.44 0.34 0.36 0.4844 0.8840 0.3992 0.5316 0.4007 0.4382 0.515 0.4140 0.52 0.86 0.35 0.62 0.19 rs7210574 . . Benign|Benign not_specified|Familial_hemophagocytic_lymphohistiocytosis RCV000243222.1|RCV000310924.1 MedGen|MedGen:SNOMED_CT CN169374|C0272199:398250003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3830 0.8929 0.3024 0.4956 0.4364 0.2772 0.3442 0.3834 0.3834 0.4781 0.8772 0.3189 0.4934 0.4206 0.2736 0.3174 0.3344 hom 496.27 15 17 73824121 . T C 496.27 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;QD=33.08;VQSLOD=9.4505;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:529,42,0 17 73827205 73827205 T C exonic UNC13D nonsynonymous SNV UNC13D:NM_199242:exon27:c.A2599G:p.K867E 0.5 0.9 0.3 0.43 0.34 0.34 0.3666 0.8382 0.2352 0.4454 0.2334 0.3207 0.3787 0.3565 0.49 0.82 0.33 0.59 0.29 rs1135688 COSM3755863 1(haematopoietic_and_lymphoid_tissue);1(pancreas);2(thyroid);1(large_intestine) Benign|Benign not_specified|Familial_hemophagocytic_lymphohistiocytosis RCV000254166.1|RCV000288566.1 MedGen|MedGen:SNOMED_CT CN169374|C0272199:398250003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.025 0.262 N 1 0.090 P -1.545 0.005 N -0.64 0.721 T 2.82 0.002 N 0.043 0.023 -0.948 0.413 T 0.000 0.000 T . . . -0.812 0.040 0.040 0.158 0.004 0.012 0.041 N c -1.489 -1.318 0.973 0.294 0.672 0.522 0 3.7 0.414 1.068 0.300 -0.426 0.059 0.163 0.236 0.030 0.147 9.48 0.379 Mammalian uncoordinated homology 13\x2c domain 2|Mammalian uncoordinated homology 13\x2c subgroup\x2c domain 2 ENSG00000188878.12|ENSG00000204316.8|ENSG00000188878.12|ENSG00000188878.12|ENSG00000188878.12|ENSG00000141569.6|ENSG00000204316.8|ENSG00000188878.12|ENSG00000141569.6|ENSG00000188878.12|ENSG00000188878.12|ENSG00000188878.12|ENSG00000188878.12|ENSG00000108479.7|ENSG00000092929.7|ENSG00000188878.12|ENSG00000188878.12|ENSG00000141569.6|ENSG00000267801.1|ENSG00000188878.12|ENSG00000204316.8|ENSG00000188878.12|ENSG00000188878.12|ENSG00000132481.2|ENSG00000267801.1|ENSG00000188878.12|ENSG00000204316.8|ENSG00000188878.12|ENSG00000188878.12|ENSG00000250506.2|ENSG00000257949.2|ENSG00000188878.12|ENSG00000132471.7|ENSG00000267342.1|ENSG00000204316.8|ENSG00000092929.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Prostate|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3513 0.8467 0.2441 0.4214 0.4260 0.2277 0.3198 0.3582 0.3595 0.4525 0.8366 0.2709 0.4371 0.4091 0.2331 0.3051 0.2988 hom 1365.67 46 17 73827205 . T C 1365.67 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=59.19;MQ0=0;QD=29.69;VQSLOD=8.5117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1399,114,0 17 73836162 73836162 C G exonic UNC13D synonymous SNV UNC13D:NM_199242:exon11:c.G888C:p.P296P 0.49 0.86 0.3 0.42 0.34 0.35 0.3706 0.7976 0.2420 0.4367 0.25 0.3291 0.3817 0.3648 0.48 0.78 0.33 0.58 0.33 rs7223416 COSM3755864 2(large_intestine) Benign|Benign not_specified|Familial_hemophagocytic_lymphohistiocytosis RCV000248941.1|RCV000364623.1 MedGen|MedGen:SNOMED_CT CN169374|C0272199:398250003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3524 0.8055 0.2485 0.3940 0.4175 0.2366 0.3272 0.3543 0.3650 0.4469 0.7975 0.2686 0.4139 0.3995 0.2413 0.3152 0.3143 hom 914.25 31 17 73836162 . C G 914.25 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=29.49;VQSLOD=8.4824;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:72.22:947,72,0 17 73949540 73949540 G C exonic ACOX1 nonsynonymous SNV ACOX1:NM_001185039:exon7:c.C822G:p.I274M,ACOX1:NM_004035:exon7:c.C936G:p.I312M,ACOX1:NM_007292:exon7:c.C936G:p.I312M 0.55 0.16 0.67 0.79 0.64 0.66 0.6424 0.2161 0.7200 0.7919 0.7619 0.6627 0.6465 0.6484 0.51 0.23 0.65 0.51 0.67 rs1135640 COSM3755875;COSM3755874 1(thyroid);1(large_intestine) Benign|Benign not_specified|Pseudoneonatal_adrenoleukodystrophy RCV000253358.1|RCV000405630.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1849678:264470:ORPHA2971 . . . . . . 0.256 0.203 T 0.003 0.131 B 0.004 0.093 B 0.000 0.504 D 0.002 0.443 P 1.675 0.433 L -0.47 0.701 T -0.57 0.172 N 0.251 0.306 -0.914 0.463 T 0.000 0.000 T . . . 2.262 0.333 17.91 0.921 0.208 0.926 0.558 D c -0.066 0.153 0.006 0.111 0.707 0.730 0 5.2 0.716 1.129 0.308 1.048 0.713 1.000 0.715 1.000 0.888 7.546 0.268 Acyl-CoA dehydrogenase/oxidase C-terminal ENSG00000141569.6|ENSG00000188878.12|ENSG00000267342.1|ENSG00000204316.8|ENSG00000188878.12|ENSG00000188878.12|ENSG00000188878.12|ENSG00000204316.8|ENSG00000188878.12|ENSG00000204316.8|ENSG00000141569.6|ENSG00000141569.6|ENSG00000204316.8|ENSG00000188878.12|ENSG00000141569.6|ENSG00000188878.12|ENSG00000188878.12|ENSG00000108479.7|ENSG00000092929.7|ENSG00000188878.12|ENSG00000188878.12|ENSG00000141569.6|ENSG00000188878.12|ENSG00000204316.8|ENSG00000188878.12|ENSG00000132481.2|ENSG00000267801.1|ENSG00000188878.12|ENSG00000267342.1|ENSG00000204316.8|ENSG00000188878.12|ENSG00000141569.6|ENSG00000188878.12|ENSG00000267342.1|ENSG00000204316.8|ENSG00000092929.7|ENSG00000161533.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Breast_Mammary_Tissue|Esophagus_Muscularis|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6538 0.2071 0.7147 0.6112 0.8004 0.7641 0.6591 0.6441 0.6436 0.5614 0.2094 0.7093 0.5993 0.8166 0.7559 0.6768 0.6769 hom 3937.90 121 17 73949540 . G C 3937.90 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8661;MQ=59.54;MQ0=0;QD=32.54;VQSLOD=9.8533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:121:99:3900,298,0 17 74014628 74014628 G A exonic EVPL synonymous SNV EVPL:NM_001320747:exon12:c.C1338T:p.H446H,EVPL:NM_001988:exon12:c.C1338T:p.H446H 0.5 0.36 0.49 0.75 0.4 0.54 0.4708 0.4176 0.4773 0.7310 0.5590 0.4376 0.4336 0.4606 0.42 0.41 0.43 0.51 0.36 rs2071193 COSM3746456 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4683 0.4110 0.4659 0.4018 0.7384 0.5624 0.4270 0.4322 0.4560 0.4604 0.4051 0.4809 0.4106 0.7559 0.5519 0.4388 0.4642 hom 1201.86 42 17 74014628 . G A 1201.86 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.097;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9759;MQ=58.29;MQ0=0;MQRankSum=2.215;QD=28.62;ReadPosRankSum=-2.274;VQSLOD=5.9268;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,40:42:63.73:1235,64,0 17 74014668 74014668 T C exonic EVPL nonsynonymous SNV EVPL:NM_001320747:exon12:c.A1298G:p.Q433R,EVPL:NM_001988:exon12:c.A1298G:p.Q433R 0.68 0.63 0.63 0.76 0.62 0.75 0.6690 0.6383 0.6113 0.7331 0.7454 0.6547 0.6447 0.7221 0.64 0.64 0.65 0.62 0.64 rs2071192 COSM3755881 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -2.35 0.001 N 0.49 0.558 T 3.41 0.001 N 0.043 0.023 -0.922 0.452 T 0.000 0.000 T . . . -1.848 0.010 0.002 0.582 0.058 0.001 0.006 N c -1.710 -1.572 0.001 0.077 0.487 0.133 0 0.862 0.181 1.568 0.358 -0.868 0.028 0.005 0.169 0.013 0.120 10.664 0.447 . ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000250506.2|ENSG00000257949.2|ENSG00000250506.2|ENSG00000257949.2|ENSG00000250506.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000167880.3|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000257949.2|ENSG00000250506.2|ENSG00000257949.2|ENSG00000257949.2 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.6641 0.6357 0.6013 0.5605 0.7412 0.7546 0.6525 0.6292 0.7144 0.6656 0.6221 0.6220 0.5762 0.7583 0.7467 0.6662 0.6670 hom 1138.80 43 17 74014668 . T C 1138.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.817;DP=43;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9469;MQ=58.98;MQ0=0;MQRankSum=2.336;QD=26.48;ReadPosRankSum=1.471;VQSLOD=5.7953;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,41:43:57.60:1172,58,0 17 74076415 74076415 G A exonic ZACN nonsynonymous SNV ZACN:NM_180990:exon5:c.G454A:p.A152T 0.6 0.64 0.49 0.52 0.62 0.72 0.6008 0.6353 0.4433 0.4656 0.6079 0.6145 0.5885 0.7023 0.61 0.63 0.61 0.54 0.57 rs2257020 . . . . . . . . . . . . . 0.294 0.148 T 0.0 0.026 B 0.0 0.013 B 0.001 0.431 N 1.000 0.588 P -2.175 0.001 N -1.12 0.776 T 1.28 0.010 N 0.041 0.030 -0.915 0.463 T 0.000 0.000 T . . . 2.736 0.390 21.0 0.909 0.195 0.113 0.163 N c -0.859 -0.578 1.000 0.747 0.598 0.340 0 4.6 0.564 1.302 0.328 0.117 0.209 0.003 0.159 0.680 0.305 8.089 0.298 Neurotransmitter-gated ion-channel ligand-binding domain ENSG00000167881.10|ENSG00000167881.10|ENSG00000167881.10|ENSG00000167881.10|ENSG00000167881.10|ENSG00000167881.10|ENSG00000167881.10|ENSG00000167881.10|ENSG00000167881.10|ENSG00000167880.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.5898 0.6359 0.4386 0.6089 0.4665 0.6042 0.6123 0.5871 0.7028 0.6018 0.6374 0.4606 0.5331 0.4771 0.6175 0.6009 0.5914 hom 6100 204 17 74076415 . G A 6100 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0641;MQ=58.89;MQ0=0;QD=29.90;VQSLOD=5.5997;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:6099,481,0 17 74152366 74152366 A G exonic RNF157 synonymous SNV RNF157:NM_001330501:exon14:c.T1450C:p.L484L,RNF157:NM_052916:exon14:c.T1450C:p.L484L 0.31 0.26 0.4 0.22 0.38 0.35 0.3328 0.2757 0.3585 0.2029 0.3109 0.3565 0.3363 0.3312 0.33 0.27 0.36 0.27 0.46 rs881502 COSM148345;COSM4415753 1(bone);1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3342 0.2673 0.3576 0.3262 0.2046 0.3086 0.3623 0.3426 0.3326 0.3238 0.2671 0.3699 0.3510 0.1954 0.3110 0.3698 0.3368 hom 3659.87 113 17 74152366 . A G 3659.87 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=59.01;MQ0=0;QD=32.39;VQSLOD=8.9180;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3659,286,0 17 74163821 74163821 G A exonic RNF157 synonymous SNV RNF157:NM_001330501:exon4:c.C354T:p.Y118Y,RNF157:NM_052916:exon4:c.C354T:p.Y118Y 0.2 0.2 0.23 0.14 0.18 0.24 0.1884 0.1924 0.1593 0.1479 0.1849 0.1846 0.2346 0.2419 0.19 0.2 0.19 0.22 0.29 rs2289603 COSM3755884;COSM3755883 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1881 0.1934 0.1615 0.2297 0.1452 0.1859 0.1823 0.2075 0.2446 0.1880 0.1939 0.1897 0.2053 0.1691 0.1768 0.1886 0.1908 hom 3807.22 127 17 74163821 . G A 3807.22 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=29.98;VQSLOD=9.0725;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3807,301,0 17 74261677 74261677 T C exonic UBALD2 synonymous SNV UBALD2:NM_182565:exon1:c.T91C:p.L31L 0.71 0.88 0.64 0.7 0.55 0.71 0.6417 0.8518 0.6136 0.7356 0.5715 0.5920 0.6887 0.7193 0.67 0.84 0.58 . 0.52 rs2585751 COSM3749416 1(urinary_tract);2(thyroid);9(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6229 0.8514 0.6014 0.6661 0.7253 0.5487 0.5816 0.6008 0.7124 0.6753 0.8413 0.5968 0.6667 0.7079 0.5523 0.5978 0.5910 hom 266.93 10 17 74261677 . T C 266.93 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.69;VQSLOD=12.9076;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:300,24,0 17 74286082 74286082 C T exonic QRICH2 synonymous SNV QRICH2:NM_032134:exon5:c.G3291A:p.E1097E 0.45 0.65 0.31 0.57 0.28 0.35 0.3437 0.6213 0.2967 0.5642 0.2562 0.2872 0.3271 0.3515 0.4 0.61 0.29 0.42 0.23 rs4789273 COSM5654342 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3355 0.6218 0.2981 0.3590 0.5639 0.2531 0.2844 0.3080 0.3498 0.3807 0.5938 0.3083 0.4007 0.5574 0.2434 0.2796 0.2734 het 1669.03 179 17 74286082 . C T 1669.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.078;DP=179;Dels=0.00;FS=1.218;HRun=3;HaplotypeScore=9.3116;MQ=57.75;MQ0=0;MQRankSum=2.081;QD=9.32;ReadPosRankSum=-0.078;VQSLOD=3.4061;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:110,69:179:99:1699,0,2905 17 74286106 74286106 C T exonic QRICH2 synonymous SNV QRICH2:NM_032134:exon5:c.G3267A:p.T1089T 0.45 0.65 0.31 0.57 0.28 0.35 0.3438 0.6208 0.2968 0.5646 0.2560 0.2873 0.3267 0.3514 0.4 0.61 0.29 0.42 0.22 rs4789274 COSM3755885 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3366 0.6218 0.2992 0.3602 0.5647 0.2537 0.2851 0.3098 0.3526 0.3803 0.5946 0.3060 0.4027 0.5586 0.2432 0.2786 0.2764 het 1912.12 210 17 74286106 . C T 1912.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.593;DP=210;Dels=0.00;FS=1.116;HRun=0;HaplotypeScore=3.5136;MQ=57.95;MQ0=0;MQRankSum=0.196;QD=9.11;ReadPosRankSum=0.748;VQSLOD=5.1059;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:130,78:210:99:1942,0,3185 17 74287204 74287204 C G exonic QRICH2 nonsynonymous SNV QRICH2:NM_032134:exon4:c.G3106C:p.E1036Q 0.42 0.51 0.29 0.57 0.28 0.35 0.3320 0.4970 0.2909 0.5655 0.2561 0.2862 0.3227 0.3511 0.36 0.49 0.29 0.34 0.25 rs2279052 . . . . . . . . . . . . . 0.061 0.371 T 0.972 0.554 D 0.932 0.650 D . . . 0.912 0.275 P 1.545 0.392 L 2.7 0.537 T -1.98 0.457 N 0.286 0.345 -0.895 0.485 T 0.000 0.000 T . . . 4.624 0.620 24.5 0.987 0.444 0.962 0.676 D c 0.200 0.177 0.715 0.228 0.615 0.372 0 5.54 0.828 1.622 0.364 0.852 0.362 0.511 0.268 0.443 0.261 14.997 0.710 . ENSG00000185262.7|ENSG00000185262.7|ENSG00000185262.7|ENSG00000129646.9|ENSG00000161542.12|ENSG00000161542.12|ENSG00000129646.9|ENSG00000185262.7|ENSG00000129646.9|ENSG00000185262.7|ENSG00000161542.12|ENSG00000185262.7 Artery_Tibial|Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3277 0.4937 0.2922 0.3604 0.5645 0.2541 0.2849 0.3060 0.3531 0.3448 0.4695 0.2967 0.4007 0.5540 0.2423 0.2799 0.2720 het 2638.01 240 17 74287204 . C G 2638.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.146;DP=240;Dels=0.00;FS=2.917;HRun=0;HaplotypeScore=8.7691;MQ=59.40;MQ0=0;MQRankSum=-0.922;QD=10.99;ReadPosRankSum=1.047;VQSLOD=3.2399;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,107:240:99:2668,0,3603 17 74287389 74287389 T C exonic QRICH2 nonsynonymous SNV QRICH2:NM_032134:exon4:c.A2921G:p.H974R 0.47 0.71 0.31 0.57 0.27 0.35 0.3483 0.6730 0.2985 0.5654 0.2563 0.2867 0.3293 0.3518 0.42 0.66 0.29 0.43 0.25 rs2279053 COSM3755886 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.292 0.149 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N 3.13 0.080 T 0.06 0.063 N 0.012 0.001 -0.993 0.317 T 0.000 0.000 T . . . -2.860 0.002 0.001 0.181 0.006 0.025 0.070 N c -2.465 -2.522 1.000 0.436 0.615 0.372 0 -9.36 0.005 -2.083 0.014 -2.272 0.003 0.000 0.063 0.000 0.016 1.727 0.027 . ENSG00000185262.7|ENSG00000161542.12|ENSG00000185262.7|ENSG00000161542.12|ENSG00000185262.7|ENSG00000161542.12|ENSG00000161542.12|ENSG00000161542.12|ENSG00000185262.7|ENSG00000161542.12|ENSG00000185262.7|ENSG00000161542.12|ENSG00000185262.7 Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Whole_Blood 0.3411 0.6768 0.3026 0.3603 0.5653 0.2540 0.2857 0.3128 0.3537 0.3979 0.6545 0.3103 0.4007 0.5582 0.2428 0.2803 0.2776 het 1156.80 87 17 74287389 . T C 1156.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.539;DP=87;Dels=0.00;FS=2.880;HRun=0;HaplotypeScore=5.2117;MQ=59.14;MQ0=0;MQRankSum=1.259;QD=13.30;ReadPosRankSum=0.201;VQSLOD=5.3469;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:39,48:87:99:1187,0,1043 17 74287594 74287594 G A exonic QRICH2 nonsynonymous SNV QRICH2:NM_032134:exon4:c.C2716T:p.H906Y 0.41 0.5 0.29 0.57 0.27 0.34 0.3255 0.4859 0.2892 0.5649 0.2547 0.2804 0.3128 0.3362 0.35 0.48 0.28 0.33 0.19 rs2279054 COSM1386176 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.537 0.069 T 0.898 0.475 P 0.434 0.437 B . . . 1 0.090 P 1.59 0.404 L 3.09 0.084 T -1.47 0.360 N 0.014 0.002 -1.014 0.255 T 0.000 0.000 T . . . 1.415 0.233 12.87 0.911 0.197 0.046 0.101 N c -0.615 -0.744 0.000 0.065 0.554 0.283 0 0.958 0.187 -0.090 0.110 -0.023 0.128 0.000 0.063 0.029 0.146 6.476 0.211 . ENSG00000185262.7|ENSG00000185262.7|ENSG00000185262.7|ENSG00000185262.7|ENSG00000161542.12|ENSG00000161542.12|ENSG00000129646.9|ENSG00000185262.7|ENSG00000129646.9|ENSG00000185262.7|ENSG00000161542.12|ENSG00000185262.7 Artery_Tibial|Brain_Caudate_basal_ganglia|Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3217 0.4842 0.2899 0.3584 0.5640 0.2526 0.2787 0.3001 0.3376 0.3383 0.4593 0.2919 0.3974 0.5556 0.2403 0.2733 0.2684 het 2527.89 185 17 74287594 . G A 2527.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.627;DP=185;Dels=0.00;FS=1.954;HRun=0;HaplotypeScore=2.6722;MQ=59.40;MQ0=0;MQRankSum=-1.371;QD=13.66;ReadPosRankSum=-0.281;VQSLOD=6.0497;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,99:185:99:2558,0,2485 17 74288565 74288567 TGA - exonic QRICH2 nonframeshift deletion QRICH2:NM_032134:exon4:c.1743_1745del:p.H581del 0.47 0.71 0.31 0.57 0.28 0.35 0.3478 0.6729 0.2990 0.5641 0.2535 0.2864 0.3296 0.3510 0.42 0.66 0.29 0.011 . rs35035566 COSM1318448 1(haematopoietic_and_lymphoid_tissue);1(large_intestine);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3385 0.6726 0.3012 0.3632 0.5642 0.2514 0.2835 0.3116 0.3505 0.3953 0.6488 0.3107 0.4033 0.5571 0.2388 0.2805 0.2800 het 3947.28 218 17 74288564 . CTGA C 3947.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.891;DP=218;FS=0.000;HRun=0;HaplotypeScore=896.0034;MQ=57.78;MQ0=1;MQRankSum=-1.796;QD=17.94;ReadPosRankSum=0.776;set=variant2 GT:AD:DP:GQ:PL 0/1:126,94:218:99:3947,0,6377 17 74289500 74289500 G A exonic QRICH2 synonymous SNV QRICH2:NM_032134:exon4:c.C810T:p.V270V 0.47 0.71 0.31 0.57 0.28 0.35 0.3482 0.6739 0.2999 0.5664 0.2541 0.2863 0.3293 0.3513 0.42 0.66 0.29 0.43 0.25 rs3803737 COSM3755888 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3411 0.6777 0.3041 0.3649 0.5653 0.2512 0.2852 0.3132 0.3536 0.3974 0.6531 0.3115 0.4033 0.5570 0.2400 0.2805 0.2786 het 2470.73 211 17 74289500 . G A 2470.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.579;DP=211;DS;Dels=0.00;FS=1.745;HRun=1;HaplotypeScore=6.2725;MQ=59.49;MQ0=0;MQRankSum=0.379;QD=11.71;ReadPosRankSum=-0.349;VQSLOD=5.0077;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,88:211:99:2501,0,3304 17 74289705 74289705 A G exonic QRICH2 nonsynonymous SNV QRICH2:NM_032134:exon4:c.T605C:p.L202S 0.46 0.68 0.31 0.57 0.28 0.36 0.3474 0.6553 0.2991 0.5657 0.2580 0.2876 0.3326 0.3517 0.41 0.64 0.29 0.41 0.25 rs6501880 COSM3755890 1(large_intestine) . . . . . . . . . . . 0.344 0.125 T 0.002 0.090 B 0.001 0.063 B . . . 1 0.090 P -0.365 0.031 N 2.26 0.176 T -0.27 0.114 N 0.086 0.081 -0.978 0.354 T 0.000 0.000 T . . . -0.743 0.043 0.057 0.184 0.006 0.005 0.025 N c -1.941 -1.981 0.002 0.087 0.566 0.321 0 -4.53 0.032 -0.614 0.057 -1.556 0.009 0.000 0.063 0.001 0.043 7.182 0.248 . ENSG00000185262.7|ENSG00000161542.12|ENSG00000185262.7|ENSG00000161542.12|ENSG00000185262.7|ENSG00000161542.12|ENSG00000161542.12|ENSG00000161542.12|ENSG00000161542.12|ENSG00000185262.7|ENSG00000161542.12|ENSG00000185262.7|ENSG00000161542.12|ENSG00000185262.7 Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Whole_Blood 0.3406 0.6581 0.3037 0.3651 0.5653 0.2553 0.2861 0.3129 0.3539 0.3928 0.6353 0.3086 0.4007 0.5585 0.2438 0.2811 0.2761 het 2053.94 156 17 74289705 . A G 2053.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.682;DP=156;Dels=0.00;FS=7.282;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=1.197;QD=13.17;ReadPosRankSum=0.144;VQSLOD=5.1022;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:80,76:156:99:2084,0,2173 17 74289839 74289839 G A exonic QRICH2 synonymous SNV QRICH2:NM_032134:exon4:c.C471T:p.G157G 0.47 0.71 0.31 0.57 0.28 0.35 0.3484 0.6739 0.2996 0.5651 0.2539 0.2869 0.3293 0.3514 0.42 0.66 0.29 0.42 0.25 rs6501881 COSM3755891 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3412 0.6777 0.3042 0.3651 0.5653 0.2514 0.2854 0.3134 0.3537 0.3974 0.6530 0.3122 0.3967 0.5568 0.2406 0.2806 0.2786 het 1326.57 116 17 74289839 . G A 1326.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.745;DP=116;Dels=0.00;FS=2.521;HRun=0;HaplotypeScore=3.5529;MQ=59.68;MQ0=0;MQRankSum=0.104;QD=11.44;ReadPosRankSum=-0.424;VQSLOD=5.8371;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,53:116:99:1357,0,1634 17 74289875 74289875 C T exonic QRICH2 synonymous SNV QRICH2:NM_032134:exon4:c.G435A:p.G145G 0.47 0.71 0.31 0.57 0.28 0.35 0.3489 0.6739 0.2992 0.5653 0.2573 0.2874 0.3333 0.3514 0.42 0.66 0.29 0.42 0.25 rs6501882 COSM3755892 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3417 0.6776 0.3040 0.3651 0.5654 0.2549 0.2858 0.3139 0.3536 0.3983 0.6536 0.3130 0.3967 0.5581 0.2443 0.2815 0.2776 het 1113.81 84 17 74289875 . C T 1113.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.085;DP=84;Dels=0.00;FS=0.826;HRun=1;HaplotypeScore=2.8923;MQ=59.67;MQ0=0;MQRankSum=0.682;QD=13.26;ReadPosRankSum=0.206;VQSLOD=6.5987;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,39:84:99:1144,0,1354 17 74289908 74289908 A G exonic QRICH2 synonymous SNV QRICH2:NM_032134:exon4:c.T402C:p.S134S 0.47 0.71 0.31 0.57 0.28 0.35 0.3491 0.6739 0.2999 0.5657 0.2580 0.2876 0.3322 0.3514 0.42 0.66 0.29 0.42 0.25 rs6501883 COSM3755893 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3419 0.6776 0.3042 0.3650 0.5654 0.2553 0.2861 0.3139 0.3537 0.3982 0.6535 0.3122 0.4033 0.5578 0.2438 0.2810 0.2782 het 1223.17 77 17 74289908 . A G 1223.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.842;DP=77;Dels=0.00;FS=1.897;HRun=0;HaplotypeScore=1.7608;MQ=59.70;MQ0=0;MQRankSum=-0.097;QD=15.89;ReadPosRankSum=-0.344;VQSLOD=6.6040;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,43:77:99:1253,0,938 17 74290097 74290097 T A exonic QRICH2 synonymous SNV QRICH2:NM_032134:exon4:c.A213T:p.S71S 0.47 0.71 0.31 0.57 0.28 0.36 0.3549 0.6766 0.3000 0.5663 0.2580 0.2905 0.3405 0.3800 0.42 0.66 0.29 0.43 0.25 rs7225131 COSM1179772 1(prostate);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3435 0.6775 0.3048 0.3672 0.5655 0.2562 0.2864 0.3153 0.3565 0.3980 0.6532 0.3098 0.4007 0.5570 0.2441 0.2810 0.2790 het 1275.41 104 17 74290097 . T A 1275.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.611;DP=104;Dels=0.00;FS=1.701;HRun=0;HaplotypeScore=1.9568;MQ=59.22;MQ0=0;MQRankSum=1.387;QD=12.26;ReadPosRankSum=1.283;VQSLOD=6.1173;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,49:104:99:1305,0,1509 17 74300534 74300534 C T exonic QRICH2 nonsynonymous SNV QRICH2:NM_032134:exon3:c.G169A:p.E57K . . . . . . 5.917e-05 0 0 0 0 9.165e-05 0.0011 0 0.0001 . 0.0001 . . rs72868914 . . . . . . . . . . . . . 0.0 0.912 D 0.539 0.360 P 0.17 0.336 B . . . 0.996 0.231 N 1.04 0.263 L 2.08 0.202 T -1.96 0.454 N 0.258 0.331 -1.041 0.170 T 0.034 0.145 T 0.015 0.359 T 5.621 0.766 26.6 0.997 0.836 0.727 0.353 D c -0.270 -0.190 0.010 0.120 0.660 0.495 0 3.05 0.341 3.528 0.530 0.057 0.164 1.000 0.715 0.689 0.307 6.897 0.233 . . . 4.477e-05 0 0 0 0 0 8.964e-05 0.0002 0 0.0002 0 0.0012 0 0 0 0.0003 0 het 621.06 51 17 74300534 . C T 621.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.732;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.40;MQ0=0;MQRankSum=1.265;QD=12.18;ReadPosRankSum=2.355;VQSLOD=4.9484;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,23:51:99:651,0,686 17 74383475 74383475 T C exonic SPHK1 synonymous SNV SPHK1:NM_001142602:exon5:c.T963C:p.Y321Y,SPHK1:NM_001142601:exon6:c.T963C:p.Y321Y,SPHK1:NM_021972:exon6:c.T1005C:p.Y335Y,SPHK1:NM_182965:exon6:c.T1221C:p.Y407Y 0.21 0.21 0.17 0.4 0.14 0.14 0.1763 0.2133 0.2047 0.4058 0.1091 0.1556 0.1856 0.1223 0.18 0.21 0.16 0.28 0.25 rs3744037 COSM5828595;COSM3755894 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1784 0.2151 0.2045 0.2240 0.3986 0.1114 0.1559 0.1737 0.1251 0.1781 0.2132 0.1950 0.2318 0.4073 0.1111 0.1501 0.1222 het 666.19 50 17 74383475 . T C 666.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.830;DP=50;Dels=0.00;FS=2.424;HRun=0;HaplotypeScore=0.9332;MQ=59.54;MQ0=0;MQRankSum=-0.506;QD=13.32;ReadPosRankSum=0.642;VQSLOD=6.7172;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,27:50:99:696,0,662 17 74387284 74387284 C T exonic UBE2O nonsynonymous SNV UBE2O:NM_022066:exon18:c.G3619A:p.G1207S 0.39 0.1 0.48 0.38 0.59 0.53 0.5341 0.1740 0.5080 0.3976 0.6634 0.5964 0.5344 0.5475 0.46 0.19 0.59 0.29 0.6 rs3803739 COSM4130659;COSM148348 1(stomach);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.143 0.253 T 0.437 0.340 B 0.098 0.289 B 0.446 0.126 N 0.045 0.379 P 0.895 0.225 L -0.73 0.731 T -0.25 0.110 N 0.146 0.172 -0.978 0.355 T 0.000 0.000 T . . . 2.206 0.326 17.55 0.991 0.517 0.982 0.806 D c -0.234 -0.128 1.000 0.500 0.672 0.522 0 3.61 0.403 4.201 0.580 0.850 0.350 0.984 0.356 0.986 0.517 14.020 0.639 . ENSG00000176170.9 Whole_Blood 0.5389 0.1637 0.5049 0.4993 0.4048 0.6626 0.5980 0.5514 0.5446 0.4805 0.1807 0.4952 0.5066 0.4040 0.6670 0.6099 0.6168 het 1225.35 99 17 74387284 . C T 1225.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.222;DP=99;Dels=0.00;FS=1.681;HRun=0;HaplotypeScore=2.8561;MQ=59.39;MQ0=0;MQRankSum=0.986;QD=12.38;ReadPosRankSum=-0.160;VQSLOD=6.6601;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,48:99:99:1255,0,1313 17 74475024 74475024 G A exonic RHBDF2 nonsynonymous SNV RHBDF2:NM_001005498:exon5:c.C536T:p.P179L,RHBDF2:NM_024599:exon6:c.C623T:p.P208L 0.77 0.42 0.86 0.92 0.92 0.83 0.8787 0.5088 0.8767 0.9453 0.9098 0.9314 0.8947 0.8438 0.8 0.51 0.94 0.75 0.8 rs3744045 COSM437441 1(thyroid) Benign Howel-Evans_syndrome RCV000329731.1 MedGen:OMIM:Orphanet C1835664:148500:ORPHA2198 . . . . . . 0.078 0.339 T 0.247 0.324 B 0.125 0.320 B 0.000 0.629 N 0.000 0.475 P 1.81 0.478 L -0.18 0.658 T -2.37 0.522 N 0.093 0.101 -1.042 0.168 T 0.000 0.000 T . . . 2.245 0.331 17.80 0.995 0.682 0.973 0.736 D c -0.035 0.008 1.000 0.422 0.672 0.522 0 4.57 0.557 5.823 0.687 0.949 0.536 1.000 0.715 0.047 0.162 14.248 0.654 . . . 0.8859 0.4935 0.8807 0.9135 0.9479 0.9135 0.9367 0.9043 0.8411 0.8090 0.5027 0.8804 0.9272 0.9523 0.9178 0.9344 0.8891 hom 1355.66 38 17 74475024 . G A 1355.66 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=35.68;VQSLOD=8.6161;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1389,111,0 17 74732507 74732507 A G exonic SRSF2 synonymous SNV SRSF2:NM_001195427:exon2:c.T402C:p.S134S,SRSF2:NM_003016:exon2:c.T402C:p.S134S 0.99 0.97 0.99 1. 1. 1. 0.9973 0.9716 0.9985 1 1 0.9998 0.9978 0.9999 0.99 0.97 1. 0.83 1. rs237058 COSM4130675;COSM4130674 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9704 0.9987 0.9998 1 1 0.9997 0.9987 1.0000 0.9916 0.9703 1 1 1 1 1 1 hom 2208.90 67 17 74732507 . A G 2208.90 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.66;MQ0=0;QD=32.97;VQSLOD=9.5976;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2242,181,0 17 74733099 74733099 G A exonic SRSF2 synonymous SNV SRSF2:NM_001195427:exon1:c.C144T:p.D48D,SRSF2:NM_003016:exon1:c.C144T:p.D48D 0.79 0.42 0.9 0.92 0.91 0.93 0.8886 0.5138 0.9152 0.9218 0.8923 0.9285 0.9136 0.9158 0.8 0.53 0.93 0.66 0.85 rs237057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8951 0.4968 0.9118 0.9497 0.9233 0.8910 0.9292 0.9180 0.9150 0.8039 0.4961 0.9033 0.9669 0.9210 0.8920 0.9347 0.8901 het 710.16 45 17 74733099 . G A 710.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.287;DP=45;Dels=0.00;FS=5.029;HRun=0;HaplotypeScore=0.9159;MQ=59.49;MQ0=0;MQRankSum=1.919;QD=15.78;ReadPosRankSum=-1.229;VQSLOD=5.2301;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,26:45:99:740,0,473 17 74921072 74921072 G C exonic MGAT5B synonymous SNV MGAT5B:NM_198955:exon8:c.G1083C:p.R361R,MGAT5B:NM_001199172:exon9:c.G1050C:p.R350R,MGAT5B:NM_144677:exon9:c.G1050C:p.R350R 0.22 0.19 0.2 0.17 0.22 0.32 0.2265 0.1844 0.1411 0.1319 0.1860 0.2392 0.2287 0.3273 0.22 0.19 0.23 0.33 0.25 rs3889145 COSM3755902;COSM437460 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2192 0.1809 0.1367 0.2608 0.1285 0.1811 0.2371 0.2322 0.3267 0.1925 0.1799 0.1526 0.2616 0.1185 0.1952 0.2068 0.2119 het 1782.28 151 17 74921072 . G C 1782.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.090;DP=151;Dels=0.00;FS=0.612;HRun=0;HaplotypeScore=7.4820;MQ=59.45;MQ0=0;MQRankSum=0.361;QD=11.80;ReadPosRankSum=-0.211;VQSLOD=4.0461;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:79,72:151:99:1812,0,2087 17 74936576 74936576 G A exonic MGAT5B synonymous SNV MGAT5B:NM_198955:exon12:c.G1704A:p.P568P,MGAT5B:NM_001199172:exon13:c.G1677A:p.P559P,MGAT5B:NM_144677:exon13:c.G1671A:p.P557P 0.27 0.25 0.17 0.37 0.27 0.24 0.2567 0.2519 0.1435 0.3607 0.3078 0.2608 0.2423 0.2486 0.25 0.26 0.25 0.22 0.21 rs8081793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2507 0.2521 0.1519 0.2156 0.3521 0.3007 0.2586 0.2434 0.2483 0.2694 0.2588 0.1563 0.2219 0.3509 0.3067 0.2651 0.2731 het 2006.94 169 17 74936576 . G A 2006.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.508;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2685;MQ=59.73;MQ0=0;MQRankSum=1.036;QD=11.88;ReadPosRankSum=0.319;VQSLOD=4.1301;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,82:169:99:2037,0,2099 17 74942478 74942478 C T exonic MGAT5B synonymous SNV MGAT5B:NM_198955:exon14:c.C1896T:p.Y632Y,MGAT5B:NM_001199172:exon15:c.C1869T:p.Y623Y,MGAT5B:NM_144677:exon15:c.C1863T:p.Y621Y 0.36 0.25 0.27 0.54 0.4 0.34 0.3779 0.2704 0.2601 0.5615 0.4509 0.3929 0.3565 0.3428 0.35 0.27 0.39 0.24 0.3 rs8067984 COSM3755905;COSM3755906 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3654 0.2600 0.2548 0.2798 0.5433 0.4307 0.3907 0.3553 0.3312 0.3815 0.2768 0.2685 0.2848 0.5553 0.4385 0.4174 0.4039 het 765.43 71 17 74942478 . C T 765.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.745;DP=71;Dels=0.00;FS=2.003;HRun=0;HaplotypeScore=2.9855;MQ=59.68;MQ0=0;MQRankSum=1.084;QD=10.78;ReadPosRankSum=1.281;VQSLOD=6.1068;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,31:71:99:795,0,972 17 75190846 75190846 A C exonic SEC14L1 nonsynonymous SNV SEC14L1:NM_001144001:exon5:c.A460C:p.T154P,SEC14L1:NM_001039573:exon7:c.A562C:p.T188P,SEC14L1:NM_001143998:exon7:c.A562C:p.T188P,SEC14L1:NM_001143999:exon7:c.A562C:p.T188P,SEC14L1:NM_003003:exon7:c.A562C:p.T188P,SEC14L1:NM_001204410:exon8:c.A562C:p.T188P,SEC14L1:NM_001204408:exon9:c.A562C:p.T188P 0.99 0.96 1. 1. 1. 1. 0.9964 0.9609 0.9981 1 1 0.9999 0.9989 1 0.99 0.96 1. 0.98 1. rs673918 . . . . . . . . . . . . . 0.6 0.061 T 0.0 0.026 B 0.003 0.080 B 0.048 0.233 N 1.000 0.090 P -1.265 0.007 N 0.9 0.707 T 0.64 0.024 N 0.007 0.092 -0.977 0.358 T 0.000 0.000 T . . . 1.137 0.204 11.42 0.730 0.099 0.013 0.045 N c -1.276 -1.128 0.102 0.164 0.707 0.730 0 1.8 0.240 0.878 0.276 0.009 0.139 0.027 0.200 0.012 0.117 2.229 0.037 PRELI/MSF1 domain . . 0.9971 0.9597 0.9978 0.9999 1 1 1.0000 0.9989 0.9999 0.9893 0.9626 0.9988 1 1 1 0.9999 0.9969 hom 6418.38 202 17 75190846 . A C 6418.38 Mask AC=2;AF=1.00;AN=2;DP=202;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=59.43;MQ0=0;QD=31.77;VQSLOD=9.1486;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,199:202:99:6339,488,0 17 75202387 75202387 C A exonic SEC14L1 synonymous SNV SEC14L1:NM_001144001:exon10:c.C1144A:p.R382R,SEC14L1:NM_001039573:exon12:c.C1246A:p.R416R,SEC14L1:NM_001143998:exon12:c.C1246A:p.R416R,SEC14L1:NM_001143999:exon12:c.C1246A:p.R416R,SEC14L1:NM_003003:exon12:c.C1246A:p.R416R,SEC14L1:NM_001204410:exon13:c.C1246A:p.R416R,SEC14L1:NM_001204408:exon14:c.C1246A:p.R416R 0.056 0.003 0.016 0.13 0.037 0.1 0.0479 0.0094 0.0145 0.1290 0.0448 0.0369 0.0639 0.0981 0.027 0.0077 0.037 0.033 0.025 rs2280271 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0470 0.0078 0.0144 0.0136 0.1316 0.0462 0.0380 0.0391 0.1004 0.0351 0.0079 0.0167 0.0099 0.1279 0.0444 0.0395 0.0479 het 1245.54 91 17 75202387 . C A 1245.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.838;DP=91;Dels=0.00;FS=1.695;HRun=0;HaplotypeScore=1.9814;MQ=59.49;MQ0=0;MQRankSum=0.353;QD=13.69;ReadPosRankSum=0.250;VQSLOD=6.8858;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,45:91:99:1276,0,1214 17 75398498 75398498 C T exonic SEPT9 nonsynonymous SNV SEPT9:NM_001113493:exon2:c.C413T:p.P138L,SEPT9:NM_001293695:exon2:c.C377T:p.P126L,SEPT9:NM_006640:exon2:c.C380T:p.P127L,SEPT9:NM_001113491:exon3:c.C434T:p.P145L 0.05 0.0091 0.085 0.012 0.12 0.05 0.0928 0.0275 0.0709 0.0058 0.0795 0.1223 0.1071 0.0744 0.082 0.023 0.11 0.065 . rs34587622 COSM3755915;COSM3755914;COSM3755912;COSM3755913 1(breast);1(large_intestine) Benign Hereditary_Neuralgic_Amyotrophy_(HNA) RCV000406676.1 MedGen CN239156 . . . . . . 0.003 0.682 D 0.14 0.532 B 0.007 0.368 B 0.492 0.050 N 0.000 0.588 P 2.455 0.715 M 1.42 0.540 T -1.63 0.414 N 0.096 0.174 -1.049 0.146 T 0.002 0.005 T . . . 1.772 0.274 14.82 0.997 0.794 0.669 0.330 D c -0.206 -0.204 1.000 0.401 0.706 0.609 0 4.28 0.500 1.805 0.383 0.925 0.434 0.836 0.300 0.019 0.132 12.671 0.561 . . . 0.0835 0.0174 0.0703 0.0796 0.0047 0.0670 0.1152 0.1174 0.0676 0.0722 0.0190 0.0835 0.1033 0.0019 0.0634 0.1102 0.0941 het 370.89 23 17 75398498 . C T 370.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.355;DP=23;Dels=0.00;FS=7.464;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.226;QD=16.13;ReadPosRankSum=0.613;VQSLOD=4.0572;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,15:23:99:401,0,199 17 75494705 75494705 A G exonic SEPT9 nonsynonymous SNV SEPT9:NM_001113495:exon10:c.A1390G:p.M464V,SEPT9:NM_001113496:exon10:c.A973G:p.M325V,SEPT9:NM_001293696:exon10:c.A1054G:p.M352V,SEPT9:NM_001293697:exon10:c.A973G:p.M325V,SEPT9:NM_001293698:exon10:c.A973G:p.M325V,SEPT9:NM_001113493:exon11:c.A1705G:p.M569V,SEPT9:NM_001113494:exon11:c.A1234G:p.M412V,SEPT9:NM_001293695:exon11:c.A1669G:p.M557V,SEPT9:NM_006640:exon11:c.A1672G:p.M558V,SEPT9:NM_001113491:exon12:c.A1726G:p.M576V,SEPT9:NM_001113492:exon12:c.A1234G:p.M412V 0.91 0.75 0.93 1. 0.94 0.97 0.9371 0.7768 0.9714 0.9992 0.9217 0.9385 0.95 0.9718 0.89 0.8 0.94 . . rs2627223 COSM4130689;COSM4130691;COSM4130690;COSM4130692;COSM4130688 1(thyroid) Benign Hereditary_Neuralgic_Amyotrophy_(HNA) RCV000343437.1 MedGen CN239156 . . . . . . 1.0 0.052 T 0.0 0.067 B 0.0 0.013 B 0.337 0.042 N 1 0.090 P -2.36 0.001 N 1.55 0.407 T 0.6 0.025 N 0.009 0.004 -0.966 0.381 T 0.000 0.000 T . . . -0.847 0.038 0.034 0.334 0.020 0.022 0.064 N c -1.384 -1.201 0.663 0.223 0.706 0.609 0 2.77 0.315 0.070 0.143 -0.869 0.028 0.000 0.063 0.063 0.172 6.896 0.233 P-loop containing nucleoside triphosphate hydrolase|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain . . 0.9390 0.7706 0.9673 0.9503 0.9995 0.9236 0.9365 0.9479 0.9707 0.8893 0.7668 0.9614 0.9503 1 0.9147 0.9343 0.9255 hom 239.08 11 17 75494705 . A G 239.08 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=21.73;VQSLOD=13.4405;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:21.06:272,21,0 17 76130575 76130575 A T exonic TMC8 nonsynonymous SNV TMC8:NM_152468:exon8:c.A917T:p.N306I 0.55 0.71 0.59 0.42 0.49 0.51 0.5148 0.6839 0.5530 0.4293 0.4909 0.4988 0.5322 0.5004 0.56 0.69 0.49 0.69 0.43 rs7208422 COSM5505508 1(biliary_tract) Benign not_specified RCV000455804.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.443 N 1.000 0.192 P -2.635 0.000 N 0.26 0.593 T 4.48 0.000 N 0.093 0.092 -0.941 0.425 T 0.000 0.000 T . . . 0.281 0.121 5.512 0.789 0.121 0.002 0.013 N c -1.073 -0.836 1.0 0.983 0.520 0.210 0 4.71 0.589 0.971 0.288 0.152 0.238 0.635 0.278 0.145 0.203 9.032 0.352 . . . 0.5120 0.6812 0.5630 0.5340 0.4264 0.4799 0.4956 0.5177 0.4951 0.5462 0.6753 0.5716 0.5099 0.4244 0.4885 0.4975 0.5368 hom 3456.46 123 17 76130575 . A T 3456.46 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=58.51;MQ0=0;QD=28.10;VQSLOD=8.2522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:123:99:3456,277,0 17 76131070 76131070 G A exonic TMC8 synonymous SNV TMC8:NM_152468:exon9:c.G1107A:p.E369E 0.54 0.72 0.63 0.39 0.53 0.39 0.5343 0.6911 0.6176 0.4197 0.5666 0.5324 0.5519 0.4310 0.58 0.69 0.52 0.59 0.48 rs12452890 COSM5618861 1(breast) Benign not_specified RCV000455156.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5365 0.7014 0.6189 0.6077 0.4131 0.5614 0.5249 0.5505 0.4327 0.5813 0.6972 0.6495 0.5563 0.4175 0.5791 0.5306 0.5530 hom 3434.21 102 17 76131070 . G A 3434.21 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;QD=33.67;VQSLOD=9.5278;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3434,268,0 17 76137175 76137175 C A exonic TMC8 synonymous SNV TMC8:NM_152468:exon16:c.C2163A:p.P721P . . . . . . 4.157e-05 0.0001 0 0 0 5.573e-05 0 0 . . . . . rs527688678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.385e-05 0.0002 0 0 0 0 3.104e-05 0 0 3.234e-05 0 0 0 0 0 6.676e-05 0 het 230 18 17 76137175 . C A 230 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.288;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9226;MQ=58.61;MQ0=0;MQRankSum=1.111;QD=12.78;ReadPosRankSum=-0.222;VQSLOD=4.5857;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,10:18:99:260,0,191 17 76166939 76166939 C G exonic SYNGR2 synonymous SNV SYNGR2:NM_001320523:exon2:c.C141G:p.G47G,SYNGR2:NM_004710:exon2:c.C141G:p.G47G 0.084 0.0053 0.06 0.25 0.022 0.1 0.0586 0.0107 0.0837 0.2481 0.0375 0.0271 0.0640 0.1075 0.016 0.0089 0.019 0.087 . rs1079170 COSM4000317 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0583 0.0104 0.0783 0.0179 0.2414 0.0344 0.0259 0.0450 0.1076 0.0328 0.0109 0.0634 0.0265 0.2358 0.0298 0.0232 0.0265 het 3954.83 225 17 76166939 . C G 3954.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.102;DP=225;DS;Dels=0.00;FS=1.672;HRun=3;HaplotypeScore=8.6194;MQ=59.42;MQ0=0;MQRankSum=1.762;QD=17.58;ReadPosRankSum=-0.418;VQSLOD=2.8340;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,113:225:99:3349,0,3059 17 76178748 76178748 T C exonic TK1 synonymous SNV TK1:NM_001346663:exon4:c.A225G:p.A75A,TK1:NM_003258:exon4:c.A225G:p.A75A 0.68 0.87 0.67 0.62 0.45 0.74 0.6099 0.8363 0.7662 0.6700 0.5271 0.5193 0.5655 0.6995 0.57 0.82 0.44 0.73 . rs1143697 COSM148352;COSM4130701;COSM4130700 1(stomach);1(kidney);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5580 0.8362 0.7192 0.4615 0.6357 0.4642 0.4499 0.5220 0.6814 0.5843 0.8239 0.6871 0.4967 0.6382 0.4692 0.4665 0.5102 hom 433.13 16 17 76178748 . T C 433.13 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.07;VQSLOD=12.8833;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.11:466,39,0 17 76178751 76178751 C T exonic TK1 synonymous SNV TK1:NM_001346663:exon4:c.G222A:p.E74E,TK1:NM_003258:exon4:c.G222A:p.E74E 0.086 0.012 0.065 0.24 0.021 0.11 0.0831 0.0211 0.1372 0.3117 0.0424 0.0406 0.0877 0.1300 0.017 0.014 0.019 0.098 . rs1143696 COSM5440553;COSM5440554;COSM5440552 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0585 0.0157 0.0777 0.0152 0.2399 0.0255 0.0247 0.0462 0.1102 0.0335 0.0175 0.0598 0.0232 0.2360 0.0224 0.0229 0.0265 het 191.42 16 17 76178751 . C T 191.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.053;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.893;QD=11.96;ReadPosRankSum=-0.788;VQSLOD=11.2453;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:221,0,198 17 76183043 76183043 A G exonic TK1 synonymous SNV TK1:NM_001346663:exon1:c.T33C:p.P11P,TK1:NM_003258:exon1:c.T33C:p.P11P 0.55 0.74 0.61 0.59 0.36 0.43 0.5302 0.7136 0.7280 0.6711 0.5478 0.4744 0.4518 0.4494 0.46 0.68 0.36 0.61 . rs1071664 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4627 0.7043 0.6762 0.3720 0.6060 0.4184 0.3699 0.4405 0.4175 0.4918 0.6870 0.6355 0.4133 0.6099 0.4113 0.3821 0.4261 hom 330.01 13 17 76183043 . A G 330.01 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.39;VQSLOD=13.6505;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:30.08:363,30,0 17 76219591 76219591 G A exonic BIRC5 nonsynonymous SNV BIRC5:NM_001168:exon4:c.G385A:p.E129K,BIRC5:NM_001012271:exon5:c.G454A:p.E152K 0.93 1. 0.94 0.77 0.95 0.96 0.9359 0.9903 0.9161 0.7843 0.9295 0.9472 0.9349 0.9523 0.97 0.99 0.95 0.94 0.96 rs2071214 . . . . . . . Behavioural disinhibition (generation interaction) . . 23942779 rs2071214 8E-6 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.070 0.216 N 1 0.203 P . . . 3.82 0.038 T 0.67 0.023 N 0.057 0.040 -0.986 0.337 T 0.000 0.000 T . . . 0.549 0.147 7.797 0.784 0.119 0.006 0.027 N c -1.243 -1.244 1.000 0.425 0.731 0.878 0 0.406 0.155 -0.141 0.102 -0.682 0.039 0.000 0.063 0.001 0.043 4.655 0.119 . . . 0.9345 0.9912 0.9167 0.9529 0.7878 0.9341 0.9478 0.9444 0.9518 0.9500 0.9904 0.9284 0.9503 0.7884 0.9298 0.9501 0.9440 hom 2027.28 66 17 76219591 . G A 2027.28 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.72;VQSLOD=13.9269;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2060,162,0 17 76395430 76395430 C T exonic PGS1 synonymous SNV PGS1:NM_024419:exon5:c.C513T:p.G171G 0.58 0.58 0.65 0.52 0.62 0.56 0.6023 0.5872 0.6590 0.4523 0.7052 0.6131 0.6222 0.5642 0.6 0.59 0.61 0.7 0.62 rs2292642 COSM3755921 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6105 0.5837 0.6700 0.5980 0.4581 0.7070 0.6122 0.6313 0.5688 0.6187 0.5841 0.6675 0.6093 0.4414 0.7072 0.6313 0.6697 het 1928.38 152 17 76395430 . C T 1928.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.259;DP=152;Dels=0.00;FS=2.343;HRun=0;HaplotypeScore=4.3148;MQ=58.32;MQ0=0;MQRankSum=1.194;QD=12.69;ReadPosRankSum=-0.435;VQSLOD=5.4325;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,73:152:99:1958,0,2068 17 76423097 76423097 G A exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon78:c.C12681T:p.Y4227Y 0.68 0.38 0.76 0.94 0.72 0.75 0.7446 0.4530 0.8373 0.9356 0.8304 0.7380 0.7273 0.7361 0.62 0.43 0.72 0.63 . rs2271613 COSM3755926;COSM3755927 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000455395.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7386 0.4070 0.8161 0.6425 0.9322 0.8227 0.7259 0.7116 0.7214 0.6658 0.4168 0.7900 0.7285 0.9295 0.8301 0.7299 0.7541 hom 718.96 24 17 76423097 . G A 718.96 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.96;VQSLOD=14.2381;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:60.18:752,60,0 17 76433898 76433898 T C exonic DNAH17 nonsynonymous SNV DNAH17:NM_173628:exon74:c.A11858G:p.H3953R 0.95 0.83 0.98 1. 1. 1. 0.9851 0.8516 0.9905 0.9998 1 0.9978 0.9854 0.9999 0.95 0.85 1. 0.77 . rs12941494 . . Benign not_specified RCV000454777.1 MedGen CN169374 . . . . . . 0.001 0.784 D 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 1.000 0.090 P . . . 3.21 0.117 T -7.12 0.940 D 0.02 0.004 -0.931 0.440 T 0.000 0.000 T . . . -0.506 0.055 0.212 0.281 0.014 0.047 0.103 N c -0.796 -0.682 0.959 0.284 0.635 0.413 0 4.09 0.469 -0.135 0.103 0.069 0.176 0.001 0.137 0.960 0.441 9.434 0.376 Dynein heavy chain domain . . 0.9871 0.8410 0.9896 0.9757 0.9999 1 0.9991 0.9901 0.9998 0.9551 0.8461 0.9809 0.9669 1 0.9997 0.9994 0.9888 hom 1820.51 62 17 76433898 . T C 1820.51 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.36;VQSLOD=13.2379;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1854,156,0 17 76446872 76446872 A G exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon67:c.T10791C:p.D3597D 0.028 0.0045 0.029 0.001 0.041 0.074 0.0386 0.0080 0.0265 0.0001 0.0127 0.0441 0.0387 0.0748 0.033 0.0082 0.045 0.022 . rs35957404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0371 0.0073 0.0284 0.0288 0.0002 0.0143 0.0436 0.0343 0.0782 0.0259 0.0077 0.0274 0.0331 0 0.0126 0.0417 0.0347 het 745.80 67 17 76446872 . A G 745.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.816;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.411;QD=11.13;ReadPosRankSum=-0.525;VQSLOD=10.5139;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,29:67:99:776,0,1010 17 76447713 76447713 C A exonic DNAH17 nonsynonymous SNV DNAH17:NM_173628:exon66:c.G10572T:p.K3524N 0.0006 . . . . 0.0031 0.0009 0.0002 0 0 0 0.0004 0 0.0061 0.0005 0.0002 0.0006 . . rs140747982 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B 0.352 0.043 N 1.000 0.090 N -0.98 0.012 N 1.8 0.253 T . . . 0.039 0.021 -1.057 0.125 T 0.014 0.056 T 0.003 0.057 T -1.024 0.031 0.014 0.381 0.025 0.020 0.060 N c -2.107 -2.094 1.000 0.747 0.644 0.439 0 -10.4 0.003 -2.210 0.013 -1.034 0.021 0.000 0.063 0.925 0.399 7.701 0.276 . . . 0.0008 0.0001 0.0001 0.0005 0 4.618e-05 0.0004 0 0.0046 0.0001 0 0.0012 0 0 0 0.0002 0 het 3116.80 248 17 76447713 . C A 3116.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.301;DP=248;DS;Dels=0.00;FS=2.212;HRun=2;HaplotypeScore=1.7333;MQ=59.04;MQ0=0;MQRankSum=1.891;QD=12.57;ReadPosRankSum=0.231;VQSLOD=4.6139;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,122:248:99:3147,0,3495 17 76449505 76449505 G C exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon65:c.C10449G:p.T3483T 0.47 0.3 0.48 0.6 0.6 0.4 0.5174 0.3342 0.4744 0.6277 0.5487 0.5603 0.5650 0.4172 0.49 0.34 0.56 0.4 . rs2289751 COSM3766196;COSM3766197 1(liver) Benign not_specified RCV000455990.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5217 0.3262 0.4844 0.5875 0.6413 0.5368 0.5597 0.5649 0.4153 0.4958 0.3476 0.4940 0.5927 0.6613 0.5476 0.5478 0.5348 het 479.50 47 17 76449505 . G C 479.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.691;DP=47;Dels=0.00;FS=14.493;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;MQRankSum=-1.145;QD=10.20;ReadPosRankSum=0.096;VQSLOD=3.3845;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,21:47:99:509,0,738 17 76462770 76462770 G A exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon56:c.C8907T:p.S2969S 0.65 0.35 0.77 0.84 0.8 0.62 0.7312 0.4037 0.7736 0.8199 0.7643 0.7805 0.7410 0.6334 0.67 0.43 0.79 0.54 . rs691225 . . Benign not_specified RCV000455014.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7376 0.3876 0.7790 0.7667 0.8215 0.7576 0.7819 0.7635 0.6286 0.6723 0.4050 0.7602 0.7550 0.8218 0.7543 0.7796 0.7679 hom 1727.93 56 17 76462770 . G A 1727.93 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=30.86;VQSLOD=9.0145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1761,141,0 17 76481693 76481693 C G exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon47:c.G7422C:p.T2474T 0.64 0.54 0.73 0.62 0.67 0.71 0.6712 0.5767 0.7676 0.5839 0.6642 0.6717 0.6839 0.7049 0.64 0.58 0.68 0.53 . rs11872051 COSM437662;COSM4417306 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454863.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6764 0.5732 0.7622 0.6773 0.5825 0.6719 0.6716 0.6839 0.7051 0.6377 0.5747 0.7554 0.6887 0.5752 0.6743 0.6650 0.6357 het 481.34 71 17 76481693 . C G 481.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.756;DP=71;Dels=0.00;FS=2.120;HRun=1;HaplotypeScore=3.7592;MQ=59.68;MQ0=0;MQRankSum=-2.486;QD=6.78;ReadPosRankSum=0.128;VQSLOD=2.8125;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,24:71:99:511,0,1317 17 76482432 76482432 A G exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon45:c.T6975C:p.I2325I 0.65 0.57 0.77 0.6 0.66 0.74 0.6692 0.5820 0.8245 0.5974 0.5826 0.6576 0.6793 0.7305 0.64 0.58 0.66 0.58 . rs691151 COSM4000320;COSM4000319 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000455559.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6754 0.5738 0.8100 0.6988 0.6007 0.5867 0.6604 0.6804 0.7314 0.6242 0.5767 0.8043 0.7119 0.5916 0.5888 0.6521 0.6191 het 2416.05 192 17 76482432 . A G 2416.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.978;DP=192;Dels=0.00;FS=5.195;HRun=1;HaplotypeScore=3.4136;MQ=59.44;MQ0=0;MQRankSum=2.508;QD=12.58;ReadPosRankSum=-0.690;VQSLOD=4.2222;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,96:192:99:2446,0,2503 17 76491127 76491127 T C exonic DNAH17 nonsynonymous SNV DNAH17:NM_173628:exon39:c.A5956G:p.M1986V 0.93 0.99 0.9 0.97 0.82 0.95 0.8638 0.9682 0.9255 0.9754 0.8111 0.8122 0.8631 0.9268 0.87 0.97 0.81 . . rs691652 COSM4130718;COSM4130719 1(thyroid) Benign not_specified RCV000454443.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . 0.815 0.289 P 0.635 0.160 N 3.25 0.068 T . . . 0.113 0.123 -0.929 0.443 T 0.000 0.000 T . . . 0.376 0.130 6.402 0.524 0.047 0.033 0.082 N c -0.290 -0.197 0.973 0.294 0.660 0.495 0 3.76 0.422 5.963 0.699 0.005 0.136 1.000 0.715 0.989 0.536 11.505 0.495 P-loop containing nucleoside triphosphate hydrolase . . 0.8635 0.9709 0.9175 0.8511 0.9773 0.8079 0.8099 0.8489 0.9278 0.8644 0.9705 0.9221 0.8859 0.9704 0.8080 0.8021 0.8357 hom 775.75 23 17 76491127 . T C 775.75 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=33.73;VQSLOD=9.2828;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:66.19:809,66,0 17 76491128 76491128 G C exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon39:c.C5955G:p.L1985L 0.93 0.99 0.9 0.97 0.82 0.95 0.8634 0.9681 0.9252 0.9753 0.8097 0.8118 0.8619 0.9269 0.86 0.97 0.81 . . rs606944 COSM4130721;COSM4130720 1(thyroid) Benign not_specified RCV000454917.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8631 0.9708 0.9174 0.8483 0.9772 0.8070 0.8096 0.8488 0.9278 0.8639 0.9705 0.9221 0.8825 0.9704 0.8072 0.8014 0.8347 hom 799.55 23 17 76491128 . G C 799.55 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=34.76;VQSLOD=9.0818;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:66.21:833,66,0 17 76496492 76496492 A G exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon36:c.T5535C:p.P1845P 0.93 0.99 0.9 0.97 0.81 0.95 0.8625 0.9680 0.9283 0.9770 0.8106 0.8095 0.8581 0.9267 0.86 0.97 0.8 0.91 . rs2028734 . . Benign not_specified RCV000454506.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8620 0.9704 0.9174 0.8450 0.9780 0.8074 0.8074 0.8485 0.9280 0.8610 0.9697 0.9189 0.88 0.9704 0.8056 0.7969 0.8333 hom 678.30 22 17 76496492 . A G 678.30 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.7902;MQ=57.87;MQ0=0;QD=30.83;VQSLOD=7.9173;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:60.17:711,60,0 17 76497920 76497920 C A exonic DNAH17 nonsynonymous SNV DNAH17:NM_173628:exon34:c.G5226T:p.M1742I 0.74 0.68 0.76 0.94 0.62 0.71 0.6823 0.6818 0.8275 0.9499 0.6734 0.6187 0.6826 0.7015 0.64 0.7 0.62 0.73 . rs690844 COSM3755938;COSM3755939 1(thyroid);1(large_intestine) Benign not_specified RCV000455145.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . 0.988 0.244 P . . . 1.99 0.217 T . . . 0.021 0.005 -1.025 0.222 T 0.000 0.000 T . . . 0.153 0.108 4.180 0.860 0.157 0.064 0.122 N c -1.108 -1.182 0.005 0.109 0.554 0.283 0 -2.49 0.060 -1.434 0.025 -0.920 0.025 0.001 0.137 0.362 0.248 6.363 0.205 . . . 0.6902 0.6864 0.8148 0.6535 0.9516 0.6751 0.6173 0.6683 0.7013 0.6683 0.6829 0.7931 0.6733 0.95 0.6711 0.6227 0.6512 hom 5011.57 151 17 76497920 . C A 5011.57 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8583;MQ=59.39;MQ0=0;QD=33.19;VQSLOD=10.0246;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:5011,394,0 17 76498692 76498692 C T exonic DNAH17 nonsynonymous SNV DNAH17:NM_173628:exon33:c.G5171A:p.R1724K 0.93 0.99 0.9 0.97 0.82 0.95 0.8652 0.9700 0.9313 0.9768 0.8113 0.8138 0.8634 0.9265 0.86 0.97 0.81 0.9 . rs930571 . . Benign not_specified RCV000455886.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . 0.999 0.220 P . . . 2.2 0.186 T . . . 0.008 0.001 -0.929 0.444 T 0.000 0.000 T . . . 0.172 0.110 4.378 0.465 0.037 0.027 0.072 N c -0.466 -0.440 0.004 0.103 0.403 0.052 0 3.27 0.364 1.911 0.393 0.147 0.235 0.998 0.411 0.996 0.625 9.282 0.367 . . . 0.8649 0.9718 0.9200 0.8706 0.9779 0.8089 0.8099 0.8524 0.9273 0.8632 0.9703 0.9212 0.9139 0.9704 0.8072 0.7999 0.8357 hom 935.19 28 17 76498692 . C T 935.19 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.97;MQ0=0;QD=33.40;VQSLOD=9.1237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:75.24:968,75,0 17 76503593 76503593 T C exonic DNAH17 nonsynonymous SNV DNAH17:NM_173628:exon28:c.A4531G:p.T1511A 0.58 0.74 0.45 0.47 0.6 0.55 0.5737 0.7307 0.3500 0.4633 0.5663 0.6137 0.5792 0.5354 0.65 0.74 0.61 0.62 . rs9896398 COSM148354 1(stomach) Benign not_specified RCV000455835.1 MedGen CN169374 . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.105 0.010 N 0.2 0.601 T . . . 0.023 0.006 -0.968 0.375 T 0.000 0.000 T . . . -1.048 0.030 0.013 0.388 0.026 0.027 0.072 N c -1.261 -1.111 0.000 0.053 0.598 0.340 0 1.63 0.228 0.117 0.153 -0.328 0.075 0.000 0.063 0.160 0.208 3.154 0.061 Dynein heavy chain\x2c domain-2 . . 0.5627 0.7326 0.3584 0.6499 0.4623 0.5656 0.6152 0.5758 0.5345 0.6264 0.7363 0.4103 0.6788 0.4511 0.5693 0.6069 0.6074 hom 1442.89 46 17 76503593 . T C 1442.89 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=31.37;VQSLOD=9.1249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1476,126,0 17 76511089 76511089 C T exonic DNAH17 nonsynonymous SNV DNAH17:NM_173628:exon26:c.G3880A:p.E1294K 0.016 0.0008 0.0086 0.015 0.021 0.036 0.0214 0.0030 0.0087 0.0109 0.0194 0.0235 0.0200 0.0392 0.014 0.0035 0.019 0.011 . rs61736352 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 N 1.96 0.533 M 0.09 0.615 T . . . 0.077 0.068 -0.939 0.429 T 0.115 0.409 T . . . 3.244 0.449 22.8 0.993 0.591 0.303 0.238 N c 0.012 0.040 0.215 0.183 0.487 0.133 0 5.31 0.750 1.664 0.368 0.935 0.490 0.003 0.159 0.997 0.653 13.314 0.597 Dynein heavy chain\x2c domain-2 . . 0.0201 0.0029 0.0085 0.0310 0.0104 0.0191 0.0212 0.0235 0.0392 0.0148 0.0029 0.0119 0.0331 0.0043 0.0218 0.0203 0.0265 het 998.13 79 17 76511089 . C T 998.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.147;DP=79;Dels=0.00;FS=10.834;HRun=1;HaplotypeScore=1.8664;MQ=60.00;MQ0=0;MQRankSum=-0.010;QD=12.63;ReadPosRankSum=0.390;VQSLOD=3.8105;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,39:79:99:1028,0,1014 17 76525565 76525565 A G exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon22:c.T3496C:p.L1166L 0.59 0.68 0.6 0.59 0.63 0.45 0.5904 0.6396 0.5472 0.6044 0.5419 0.6185 0.5690 0.4908 0.63 0.63 0.62 0.63 . rs4273108 COSM4416040;COSM4416041 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454599.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5881 0.6328 0.5502 0.5911 0.6142 0.5406 0.6239 0.5956 0.4954 0.6087 0.6399 0.5823 0.5828 0.6104 0.5473 0.6103 0.5543 het 2666.44 223 17 76525565 . A G 2666.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.521;DP=223;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2578;MQ=60.00;MQ0=0;MQRankSum=0.538;QD=11.96;ReadPosRankSum=-0.594;VQSLOD=4.9531;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,102:223:99:2696,0,3109 17 76528591 76528591 C T exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon20:c.G3087A:p.P1029P 0.46 0.5 0.42 0.42 0.53 0.4 0.5101 0.5003 0.3895 0.4414 0.5291 0.5502 0.5036 0.4598 0.53 0.5 0.54 0.52 . rs11868065 COSM4418740;COSM4418741 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455983.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4915 0.4807 0.3775 0.5290 0.4309 0.5196 0.5410 0.5108 0.4409 0.5159 0.4929 0.4318 0.5333 0.4253 0.5315 0.5417 0.4868 het 231.80 23 17 76528591 . C T 231.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.708;DP=23;Dels=0.00;FS=1.707;HRun=0;HaplotypeScore=3.1201;MQ=60.00;MQ0=0;MQRankSum=-1.200;QD=10.08;ReadPosRankSum=1.446;VQSLOD=4.9362;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:262,0,303 17 76528790 76528790 A G exonic DNAH17 nonsynonymous SNV DNAH17:NM_173628:exon20:c.T2888C:p.I963T 0.46 0.5 0.42 0.42 0.53 0.4 0.5236 0.5126 0.4246 0.4663 0.5494 0.5616 0.5258 0.4595 0.52 0.5 0.53 0.51 . rs11651537 COSM5438074;COSM5438073 2(oesophagus) Benign not_specified RCV000454890.1 MedGen CN169374 . . . . . . 0.648 0.049 T . . . . . . . . . 1 0.090 P 1.835 0.484 L 1.93 0.235 T 0.03 0.066 N 0.284 0.343 -0.926 0.448 T 0.000 0.000 T . . . -0.067 0.087 1.985 0.600 0.062 0.033 0.082 N c -0.337 -0.340 1.000 0.429 0.570 0.322 0 2.99 0.335 0.338 0.195 1.199 0.960 0.000 0.063 0.974 0.471 4.721 0.122 . . . 0.4804 0.4772 0.3746 0.5171 0.4252 0.5152 0.5280 0.5046 0.4253 0.5122 0.4925 0.4306 0.53 0.4236 0.5302 0.5355 0.4796 het 258.96 27 17 76528790 . A G 258.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.269;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.20;MQ0=0;MQRankSum=-0.756;QD=9.59;ReadPosRankSum=-0.512;VQSLOD=5.7246;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:289,0,370 17 76535948 76535948 T C exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon18:c.A2547G:p.L849L 0.74 0.76 0.72 0.74 0.75 0.71 0.7506 0.7809 0.6867 0.7522 0.7736 0.7591 0.7379 0.7339 0.76 0.79 0.75 0.79 . rs7221209 COSM5425522;COSM5425523 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455920.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7541 0.7847 0.7090 0.7605 0.7515 0.7725 0.7624 0.7694 0.7349 0.7775 0.7933 0.7416 0.7616 0.7594 0.7666 0.7756 0.7694 het 1041.66 88 17 76535948 . T C 1041.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.376;DP=88;Dels=0.00;FS=0.810;HRun=0;HaplotypeScore=1.7883;MQ=59.58;MQ0=0;MQRankSum=0.380;QD=11.84;ReadPosRankSum=-0.871;VQSLOD=6.7440;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,37:88:99:1072,0,1354 17 76557862 76557862 T C exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon12:c.A1770G:p.K590K 0.94 0.94 0.96 0.92 0.96 0.93 0.9462 0.9373 0.9697 0.9063 0.9040 0.9576 0.9305 0.9284 0.95 0.93 0.96 0.96 . rs894966 COSM4130726;COSM4130725 1(thyroid) Benign not_specified RCV000455615.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9457 0.9367 0.9677 0.9360 0.9093 0.8994 0.9608 0.9516 0.9278 0.9402 0.9387 0.9690 0.9371 0.9192 0.8970 0.9519 0.9406 hom 797.22 26 17 76557862 . T C 797.22 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.66;VQSLOD=13.3894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:69.15:830,69,0 17 76557994 76557994 T C exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon12:c.A1638G:p.S546S 0.0006 0.0008 . . 0.002 . 0.0034 0.0007 0.0022 0 0.0105 0.0046 0.0022 0.0007 0.0038 0.0005 0.0055 . . rs139704186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0032 0.0005 0.0013 0 0 0.0089 0.0044 0.0035 0.0008 0.0030 0.0011 0.0012 0 0 0.0100 0.0031 0.0010 het 500.19 44 17 76557994 . T C 500.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.801;DP=44;Dels=0.00;FS=6.587;HRun=1;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;MQRankSum=-1.090;QD=11.37;ReadPosRankSum=0.640;VQSLOD=3.3246;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,19:44:99:530,0,594 17 76567707 76567707 T C exonic DNAH17 nonsynonymous SNV DNAH17:NM_173628:exon4:c.A697G:p.T233A 0.99 0.99 0.99 1. 0.97 1. 0.9784 0.9901 0.9905 0.9990 0.9799 0.9680 0.9866 0.9932 0.97 0.99 0.96 0.96 . rs894968 COSM4130730;COSM4130729 1(thyroid) . . . . . . . . . . . 0.966 0.021 T . . . . . . . . . 1 0.090 P . . . 0.54 0.549 T 0.82 0.018 N 0.01 0.001 -0.993 0.319 T 0.000 0.000 T . . . -2.952 0.001 0.001 0.193 0.006 0.013 0.044 N c -1.293 -1.402 0.000 0.061 0.497 0.185 0 -2.63 0.057 -0.736 0.049 -1.108 0.018 0.000 0.063 0.019 0.132 5.009 0.136 Dynein heavy chain\x2c domain-1 . . 0.9790 0.9903 0.9866 0.987 0.9990 0.9804 0.9669 0.9757 0.9943 0.9770 0.9876 0.9869 0.9868 0.9981 0.9768 0.9676 0.9806 hom 2875.77 94 17 76567707 . T C 2875.77 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6643;MQ=58.47;MQ0=0;QD=30.59;VQSLOD=8.2772;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2909,229,0 17 76970879 76970879 A G exonic LGALS3BP synonymous SNV LGALS3BP:NM_005567:exon4:c.T267C:p.D89D 0.92 0.99 0.94 0.82 0.98 0.85 0.9529 0.9914 0.9357 0.8247 0.9740 0.9830 0.9416 0.8790 0.99 0.99 0.98 0.95 0.94 rs3744166 COSM4130735 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9534 0.9924 0.9391 0.9653 0.8258 0.9736 0.9858 0.9548 0.8853 0.9772 0.9933 0.9463 0.9603 0.8446 0.9742 0.9860 0.9593 hom 1905.85 65 17 76970879 . A G 1905.85 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=29.32;VQSLOD=8.6276;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1939,156,0 17 77040128 77040128 T C exonic C1QTNF1 synonymous SNV C1QTNF1:NM_030968:exon2:c.T78C:p.R26R,C1QTNF1:NM_153372:exon2:c.T78C:p.R26R,C1QTNF1:NM_198593:exon2:c.T78C:p.R26R 0.32 0.24 0.37 0.52 0.17 0.33 0.2561 0.2282 0.4681 0.5392 0.1957 0.1836 0.2533 0.2946 0.19 0.23 0.18 0.24 0.23 rs4789922 COSM3755955;COSM3755956 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2608 0.2341 0.4481 0.1397 0.5338 0.2012 0.1811 0.2251 0.2937 0.2281 0.2272 0.4163 0.1589 0.5299 0.2032 0.1936 0.2153 hom 2703.42 91 17 77040128 . T C 2703.42 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;QD=29.71;VQSLOD=9.1476;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2736,241,0 17 77040185 77040185 G C exonic C1QTNF1 synonymous SNV C1QTNF1:NM_030968:exon2:c.G135C:p.S45S,C1QTNF1:NM_153372:exon2:c.G135C:p.S45S,C1QTNF1:NM_198593:exon2:c.G135C:p.S45S 0.46 0.55 0.49 0.54 0.29 0.41 0.3899 0.5291 0.5509 0.5592 0.2774 0.3192 0.3860 0.4223 0.37 0.51 0.3 0.37 0.4 rs4789853 COSM3766202;COSM3766203 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3720 0.5210 0.5200 0.3261 0.5423 0.2574 0.2994 0.3454 0.4024 0.3723 0.5160 0.5048 0.3179 0.5384 0.2605 0.2949 0.3057 hom 1528.86 49 17 77040185 . G C 1528.86 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.6651;MQ=58.18;MQ0=0;QD=31.20;VQSLOD=7.8785;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1562,123,0 17 77042718 77042718 C T exonic C1QTNF1 synonymous SNV C1QTNF1:NM_030968:exon3:c.C237T:p.P79P,C1QTNF1:NM_153372:exon3:c.C237T:p.P79P,C1QTNF1:NM_198593:exon3:c.C237T:p.P79P 0.33 0.23 0.37 0.57 0.17 0.34 0.2526 0.1978 0.4698 0.5740 0.1641 0.1799 0.25 0.2962 0.18 0.19 0.18 0.26 0.2 rs11077409 COSM3755957;COSM3755958 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2571 0.1958 0.4516 0.1401 0.5661 0.1704 0.1781 0.2236 0.2947 0.2133 0.1912 0.4175 0.1556 0.5644 0.1737 0.1874 0.2131 het 2845.52 198 17 77042718 . C T 2845.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.554;DP=198;Dels=0.00;FS=1.748;HRun=0;HaplotypeScore=6.8709;MQ=59.51;MQ0=0;MQRankSum=0.388;QD=14.37;ReadPosRankSum=-0.683;VQSLOD=4.7812;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,103:198:99:2876,0,2426 17 77073566 77073566 G A exonic ENGASE synonymous SNV ENGASE:NM_001042573:exon2:c.G201A:p.P67P 0.25 0.17 0.31 0.33 0.13 0.36 0.2134 0.1618 0.4010 0.3433 0.1349 0.1578 0.2042 0.3359 0.15 0.15 0.15 0.14 0.11 rs3744181 COSM3755959 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2112 0.1610 0.3724 0.1251 0.3383 0.1416 0.1557 0.1884 0.3165 0.1765 0.1560 0.3401 0.1424 0.3599 0.1480 0.1662 0.1847 hom 1957.04 64 17 77073566 . G A 1957.04 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.58;VQSLOD=14.2085;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1990,150,0 17 77075670 77075670 C T exonic ENGASE synonymous SNV ENGASE:NM_001042573:exon4:c.C516T:p.P172P 0.41 0.61 0.4 0.38 0.17 0.42 0.2853 0.5575 0.4375 0.3832 0.1622 0.1980 0.27 0.3689 . . . 0.38 0.26 rs3744184 COSM3755961 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2768 0.5603 0.4190 0.1862 0.3832 0.1643 0.1915 0.2289 0.3578 0.3076 0.5406 0.3925 0.2020 0.3881 0.1736 0.1974 0.2439 hom 5907.90 196 17 77075670 . C T 5907.90 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.213;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6955;MQ=55.02;MQ0=0;MQRankSum=2.311;QD=30.14;ReadPosRankSum=1.772;VQSLOD=3.1788;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:4,192:196:99:5806,396,0 17 77075673 77075673 A G exonic ENGASE synonymous SNV ENGASE:NM_001042573:exon4:c.A519G:p.P173P 0.42 0.63 0.41 0.38 0.17 0.42 0.2866 0.5724 0.4382 0.3837 0.1622 0.1980 0.27 0.3689 . . . 0.38 0.26 rs3744185 COSM1165914 1(upper_aerodigestive_tract);2(large_intestine);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2774 0.5759 0.4189 0.1852 0.3830 0.1638 0.1909 0.2282 0.3576 0.3125 0.5568 0.3935 0.2020 0.3896 0.1736 0.1980 0.2439 hom 5926.58 190 17 77075673 . A G 5926.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.714;DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6955;MQ=55.12;MQ0=0;MQRankSum=1.271;QD=31.19;ReadPosRankSum=0.645;VQSLOD=3.5442;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,189:190:99:5926,484,0 17 77076440 77076440 G T exonic ENGASE synonymous SNV ENGASE:NM_001042573:exon5:c.G717T:p.S239S 0.39 0.55 0.43 0.33 0.19 0.41 0.2948 0.5098 0.4458 0.3359 0.1493 0.2251 0.2656 0.3806 0.3 0.47 0.22 0.32 0.3 rs3744186 COSM4130740;COSM4130739 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2919 0.5083 0.4295 0.1987 0.3350 0.1537 0.2283 0.2519 0.3748 0.3124 0.4960 0.4021 0.2384 0.3563 0.1662 0.2358 0.2459 hom 1664.24 53 17 77076440 . G T 1664.24 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=31.40;VQSLOD=9.4460;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1697,141,0 17 77078109 77078109 A G exonic ENGASE synonymous SNV ENGASE:NM_001042573:exon7:c.A1002G:p.R334R 0.33 0.57 0.22 0.3 0.17 0.29 0.2221 0.5168 0.1287 0.2962 0.1155 0.1846 0.2204 0.2671 0.27 0.46 0.17 0.29 0.2 rs1317421 COSM4418823;COSM4418824 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2108 0.5194 0.1329 0.2529 0.2959 0.1171 0.1804 0.1919 0.2629 0.2629 0.5060 0.1551 0.2384 0.3038 0.1198 0.1623 0.1807 het 1905.94 139 17 77078109 . A G 1905.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.189;DP=139;Dels=0.00;FS=4.497;HRun=3;HaplotypeScore=5.1690;MQ=59.23;MQ0=0;MQRankSum=2.117;QD=13.71;ReadPosRankSum=1.291;VQSLOD=4.4169;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,68:139:99:1936,0,1915 17 77081788 77081788 G A exonic ENGASE nonsynonymous SNV ENGASE:NM_001042573:exon13:c.G1787A:p.S596N 0.095 0.055 0.16 0.039 0.11 0.14 0.1257 0.0652 0.1945 0.0475 0.1081 0.1313 0.1213 0.1383 0.1 0.06 0.13 0.065 0.19 rs4789879 COSM5425046 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.001 0.067 B 0.003 0.080 B 0.070 0.215 N 1 0.090 P 1.145 0.292 L 1.38 0.340 T . . . 0.004 0.000 -1.047 0.151 T 0.000 0.001 T . . . -1.097 0.028 0.010 0.817 0.133 0.059 0.117 N c -1.427 -1.412 0.661 0.223 0.672 0.522 0 -3.02 0.051 0.166 0.163 0.064 0.169 0.013 0.187 0.183 0.213 2.390 0.041 . ENSG00000171302.12|ENSG00000167280.12 Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts 0.1253 0.0640 0.1787 0.0822 0.0467 0.1117 0.1337 0.1231 0.1353 0.1136 0.0658 0.1659 0.1033 0.0543 0.1142 0.1440 0.1291 het 427.04 38 17 77081788 . G A 427.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.166;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.570;QD=11.24;ReadPosRankSum=-0.015;VQSLOD=12.0418;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,18:38:99:457,0,575 17 77704912 77704912 T C exonic ENPP7 nonsynonymous SNV ENPP7:NM_178543:exon1:c.T11C:p.L4P 0.5 0.65 0.33 0.52 0.38 0.53 0.4562 0.6388 0.3666 0.5452 0.4241 0.4138 0.4022 0.5342 0.43 0.57 0.36 0.6 0.34 rs8074547 COSM3733746 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4071 0.6145 0.2989 0.4160 0.5142 0.3718 0.3764 0.3925 0.5002 0.4477 0.6126 0.3258 0.4536 0.4784 0.3938 0.3712 0.3967 het 446.78 35 17 77704912 . T C 446.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.142;DP=35;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;MQRankSum=0.712;QD=12.77;ReadPosRankSum=-1.308;VQSLOD=5.5219;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:477,0,559 17 77705045 77705045 T C exonic ENPP7 synonymous SNV ENPP7:NM_178543:exon1:c.T144C:p.D48D 0.52 0.7 0.34 0.51 0.38 0.53 0.4272 0.6557 0.3102 0.5059 0.3793 0.3871 0.3756 0.5072 0.47 0.64 0.38 0.63 0.38 rs8074728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4107 0.6512 0.2986 0.4172 0.5058 0.3745 0.3795 0.3965 0.5005 0.4568 0.6436 0.3294 0.4570 0.4689 0.3937 0.3722 0.4002 het 795.64 70 17 77705045 . T C 795.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.147;DP=70;Dels=0.00;FS=3.257;HRun=0;HaplotypeScore=2.5949;MQ=56.82;MQ0=1;MQRankSum=-0.294;QD=11.37;ReadPosRankSum=2.144;VQSLOD=2.7742;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:826,0,934 17 77758484 77758484 G A exonic CBX2 synonymous SNV CBX2:NM_005189:exon5:c.G1242A:p.L414L 0.2 0.029 0.23 0.18 0.44 0.2 0.3403 0.0892 0.1906 0.1983 0.4278 0.4329 0.3704 0.2597 0.3 0.088 0.41 0.23 0.34 rs3751956 COSM437706 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3295 0.0722 0.2055 0.4454 0.1831 0.3964 0.4190 0.3784 0.2621 0.2987 0.0795 0.2327 0.4404 0.2168 0.3823 0.4119 0.3781 het 322.12 26 17 77758484 . G A 322.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.177;DP=26;Dels=0.00;FS=3.834;HRun=0;HaplotypeScore=2.7601;MQ=56.31;MQ0=0;MQRankSum=-2.436;QD=12.39;ReadPosRankSum=0.137;VQSLOD=2.4307;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,15:26:99:352,0,345 17 77926491 77926491 G A exonic TBC1D16 synonymous SNV TBC1D16:NM_019020:exon4:c.C906T:p.D302D 0.17 0.083 0.23 0.069 0.28 0.25 0.2598 0.1183 0.2670 0.0768 0.3256 0.2964 0.2894 0.2631 0.24 0.13 0.3 0.13 0.24 rs4889804 COSM3755975 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2595 0.1149 0.2552 0.2581 0.0768 0.3168 0.2974 0.2774 0.2585 0.2402 0.1197 0.2422 0.2252 0.0691 0.3145 0.3089 0.2837 hom 1334.70 44 17 77926491 . G A 1334.70 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.33;VQSLOD=13.8910;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1368,114,0 17 78055758 78055758 T G exonic CCDC40 synonymous SNV CCDC40:NM_001243342:exon12:c.T1890G:p.A630A,CCDC40:NM_017950:exon12:c.T1890G:p.A630A 0.46 0.61 0.43 0.29 0.52 0.41 0.4887 0.5953 0.3736 0.2769 0.4894 0.5288 0.5045 0.4535 0.52 0.58 0.49 0.4 0.57 rs35578653 COSM3755976;COSM3755977 2(thyroid);1(large_intestine) Benign|Benign not_specified|Primary_ciliary_dyskinesia RCV000150255.2|RCV000400704.1 MedGen|MedGen:Orphanet CN169374|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4817 0.5894 0.3836 0.6046 0.2736 0.4916 0.5228 0.5002 0.4534 0.5146 0.5875 0.3971 0.5960 0.2631 0.4768 0.5123 0.5247 het 699.35 66 17 78055758 . T G 699.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.432;DP=66;Dels=0.00;FS=3.425;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=1.018;QD=10.60;ReadPosRankSum=0.551;VQSLOD=5.8894;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,28:66:99:729,0,1086 17 78071052 78071052 T C exonic CCDC40 synonymous SNV CCDC40:NM_017950:exon19:c.T3030C:p.D1010D 0.71 0.71 0.57 0.66 0.76 0.84 0.7331 0.6990 0.5047 0.6375 0.7950 0.7616 0.7623 0.8218 0.74 0.71 0.75 0.69 0.69 rs12952612 COSM437721 1(skin);1(thyroid) Benign|Benign|Benign not_specified|Glycogen_storage_disease\x2c_type_II|Primary_ciliary_dyskinesia RCV000155469.2|RCV000265227.1|RCV000301116.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:Orphanet CN169374|C0017921:232300:ORPHA365:124462004:237967002|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7231 0.6922 0.5152 0.7969 0.6352 0.7981 0.7548 0.7425 0.8182 0.7262 0.6860 0.5394 0.7848 0.6207 0.7895 0.7532 0.7622 hom 5147.14 176 17 78071052 . T C 5147.14 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9464;MQ=58.63;MQ0=0;QD=29.25;VQSLOD=3.1302;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5146,415,0 17 78078709 78078709 T C exonic GAA synonymous SNV GAA:NM_000152:exon2:c.T324C:p.C108C,GAA:NM_001079804:exon2:c.T324C:p.C108C,GAA:NM_001079803:exon3:c.T324C:p.C108C 0.71 0.72 0.56 0.65 0.76 0.83 0.7367 0.7094 0.5074 0.6370 0.8006 0.7654 0.7609 0.8214 0.73 0.7 0.75 0.6 0.57 rs1800300 COSM3755978 1(urinary_tract);1(skin);1(thyroid);1(large_intestine) Benign|Benign|Benign not_specified|Glycogen_storage_disease\x2c_type_II|Primary_ciliary_dyskinesia RCV000078180.6|RCV000284275.1|RCV000299885.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:Orphanet CN169374|C0017921:232300:ORPHA365:124462004:237967002|C0008780:ORPHA244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7238 0.6994 0.5130 0.7994 0.6313 0.8005 0.7563 0.7414 0.8178 0.7276 0.6914 0.5395 0.7881 0.6167 0.7908 0.7533 0.7571 hom 1081.24 32 17 78078709 . T C 1081.24 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6562;MQ=59.28;MQ0=0;QD=33.79;VQSLOD=8.9948;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:90.25:1114,90,0 17 78079597 78079597 A G exonic GAA nonsynonymous SNV GAA:NM_000152:exon3:c.A596G:p.H199R,GAA:NM_001079804:exon3:c.A596G:p.H199R,GAA:NM_001079803:exon4:c.A596G:p.H199R 0.6 0.52 0.54 0.54 0.75 0.65 0.6746 0.5412 0.4591 0.5293 0.7637 0.7455 0.7173 0.6618 0.67 0.54 0.74 0.59 0.65 rs1042393 COSM3755979 1(large_intestine) Benign|Benign not_specified|Glycogen_storage_disease\x2c_type_II RCV000078183.6|RCV000275148.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0017921:232300:ORPHA365:124462004:237967002 . . . . . . 0.702 0.041 T 0.0 0.026 B 0.0 0.013 B 0.263 0.153 N 1 0.090 P -3.41 0.000 N -1.81 0.840 D 1.71 0.006 N 0.013 0.211 -0.892 0.487 T 0.000 0.000 T . . . -1.974 0.008 0.001 0.420 0.030 0.024 0.067 N c -1.901 -1.780 1.000 0.517 0.696 0.567 0 -2.36 0.062 -0.030 0.122 -0.388 0.064 0.000 0.063 0.006 0.095 12.466 0.549 Galactose mutarotase\x2c N-terminal barrel|Galactose mutarotase-like domain ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.6686 0.5362 0.4734 0.7789 0.5311 0.7610 0.7402 0.7061 0.6616 0.6677 0.5355 0.5048 0.7748 0.5391 0.7599 0.7399 0.7270 hom 2252.58 77 17 78079597 . A G 2252.58 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7675;MQ=58.85;MQ0=0;QD=29.25;VQSLOD=8.5015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2286,183,0 17 78079669 78079669 G A exonic GAA nonsynonymous SNV GAA:NM_000152:exon3:c.G668A:p.R223H,GAA:NM_001079804:exon3:c.G668A:p.R223H,GAA:NM_001079803:exon4:c.G668A:p.R223H 0.6 0.52 0.54 0.54 0.75 0.66 0.6760 0.5423 0.4590 0.5291 0.7654 0.7460 0.7170 0.6701 0.67 0.54 0.74 0.59 0.66 rs1042395 COSM3721877 1(upper_aerodigestive_tract);2(large_intestine) Benign|other not_specified|Glycogen_storage_disease\x2c_type_II RCV000078185.6|RCV000169616.2 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0017921:232300:ORPHA365:124462004:237967002 . . . . . . 0.539 0.068 T 0.206 0.282 B 0.022 0.184 B 0.000 0.523 D 1 0.090 P 3.27 0.903 M -2.0 0.854 D -1.61 0.387 N 0.147 0.431 -0.910 0.468 T 0.000 0.000 T . . . 1.133 0.203 11.39 0.799 0.125 0.219 0.213 N c -0.553 -0.567 1.000 0.517 0.696 0.567 0 1.76 0.237 -0.036 0.120 0.953 0.551 0.000 0.063 0.204 0.218 10.855 0.458 Galactose mutarotase\x2c N-terminal barrel|Galactose mutarotase-like domain ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.6675 0.5363 0.4730 0.7785 0.5302 0.7560 0.7402 0.7061 0.6694 0.6676 0.5359 0.5036 0.7748 0.5360 0.7597 0.7398 0.7271 hom 1412.27 47 17 78079669 . G A 1412.27 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.659;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.40;MQ0=0;MQRankSum=0.184;QD=30.05;ReadPosRankSum=-0.995;VQSLOD=8.8557;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,46:47:99:1445,120,0 17 78082504 78082504 G A exonic GAA synonymous SNV GAA:NM_000152:exon8:c.G1203A:p.Q401Q,GAA:NM_001079804:exon8:c.G1203A:p.Q401Q,GAA:NM_001079803:exon9:c.G1203A:p.Q401Q 0.6 0.52 0.54 0.54 0.75 0.67 0.6784 0.5436 0.4620 0.5320 0.7669 0.7474 0.7209 0.6766 0.67 0.54 0.74 0.58 0.62 rs1800304 COSM3755981 1(large_intestine) Benign|Benign not_specified|Glycogen_storage_disease\x2c_type_II RCV000078155.6|RCV000344845.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0017921:232300:ORPHA365:124462004:237967002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6705 0.5285 0.4726 0.7785 0.5311 0.7664 0.7401 0.7058 0.6747 0.6654 0.5298 0.5048 0.7748 0.5362 0.7605 0.7392 0.7253 hom 884.70 26 17 78082504 . G A 884.70 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3639;MQ=58.38;MQ0=0;QD=34.03;VQSLOD=8.6794;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:78.22:918,78,0 17 78084769 78084769 G A exonic GAA synonymous SNV GAA:NM_000152:exon11:c.G1581A:p.R527R,GAA:NM_001079804:exon11:c.G1581A:p.R527R,GAA:NM_001079803:exon12:c.G1581A:p.R527R 0.16 0.034 0.26 0.11 0.27 0.2 0.2309 0.0627 0.2277 0.1214 0.2367 0.2751 0.2350 0.2156 0.21 0.068 0.28 0.16 0.21 rs1042396 COSM148357 1(stomach);1(urinary_tract) Benign|Likely benign not_specified|Glycogen_storage_disease\x2c_type_II RCV000078160.6|RCV000301295.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0017921:232300:ORPHA365:124462004:237967002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2327 0.0582 0.2319 0.2516 0.1196 0.2365 0.2765 0.2443 0.2138 0.1972 0.0630 0.2392 0.2367 0.1174 0.2232 0.2704 0.2669 hom 3167.22 102 17 78084769 . G A 3167.22 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=58.31;MQ0=0;QD=31.05;VQSLOD=7.9050;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3200,247,0 17 78091405 78091405 G A exonic GAA nonsynonymous SNV GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I 0.71 0.72 0.55 0.65 0.76 0.83 0.7296 0.7010 0.4712 0.6212 0.7962 0.7645 0.7617 0.8168 0.73 0.7 0.75 0.66 0.62 rs1126690 COSM3755982 1(urinary_tract);1(liver);1(thyroid);2(large_intestine) Benign|Benign not_specified|Glycogen_storage_disease\x2c_type_II RCV000078171.6|RCV000336875.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0017921:232300:ORPHA365:124462004:237967002 . . . . . . 0.593 0.057 T 0.001 0.067 B 0.003 0.080 B 0.508 0.051 N 1 0.090 P 1 0.253 L -2.58 0.898 D 0.01 0.069 N 0.058 0.041 -0.975 0.361 T 0.000 0.000 T . . . -0.394 0.062 0.400 0.651 0.075 0.026 0.072 N c -1.540 -1.562 0.001 0.085 0.706 0.609 0 -2.09 0.068 -1.089 0.035 -0.437 0.058 0.000 0.063 0.213 0.220 5.965 0.184 . ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8|ENSG00000171298.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.7182 0.6946 0.4860 0.7993 0.6209 0.7983 0.7566 0.7403 0.8130 0.7265 0.6930 0.5144 0.7867 0.6057 0.7902 0.7527 0.7582 hom 3173.71 107 17 78091405 . G A 3173.71 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9916;MQ=59.20;MQ0=0;QD=29.66;VQSLOD=7.6774;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3207,259,0 17 78092063 78092063 G A exonic GAA synonymous SNV GAA:NM_000152:exon18:c.G2553A:p.G851G,GAA:NM_001079804:exon18:c.G2553A:p.G851G,GAA:NM_001079803:exon19:c.G2553A:p.G851G 0.51 0.54 0.49 0.29 0.66 0.54 0.5805 0.5401 0.4184 0.2798 0.6494 0.6465 0.6230 0.5826 0.6 0.53 0.64 0.5 0.54 rs1042397 COSM3766205 1(liver) Benign|Benign not_specified|Glycogen_storage_disease\x2c_type_II RCV000078176.6|RCV000399277.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0017921:232300:ORPHA365:124462004:237967002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5725 0.5316 0.4295 0.7024 0.2786 0.6486 0.6386 0.6106 0.5727 0.5779 0.5344 0.4642 0.6821 0.2735 0.6269 0.6279 0.5973 hom 2809.54 88 17 78092063 . G A 2809.54 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.58;MQ0=0;QD=31.93;VQSLOD=8.9852;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2843,217,0 17 78113832 78113832 G A exonic EIF4A3 synonymous SNV EIF4A3:NM_014740:exon5:c.C480T:p.V160V 0.13 0.027 0.23 0.1 0.17 0.18 0.1729 0.0470 0.2071 0.1186 0.1323 0.1914 0.1869 0.1975 0.15 0.05 0.2 0.15 0.17 rs2241886 COSM1178449 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1748 0.0435 0.2042 0.2266 0.1186 0.1338 0.1900 0.1896 0.1954 0.1355 0.0473 0.2124 0.2020 0.1114 0.1296 0.1819 0.1865 hom 3366.79 99 17 78113832 . G A 3366.79 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3665;MQ=58.83;MQ0=0;QD=34.01;VQSLOD=9.4843;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3366,271,0 17 78171944 78171944 G C exonic CARD14 nonsynonymous SNV CARD14:NM_052819:exon9:c.G930C:p.R310S,CARD14:NM_001257970:exon12:c.G1641C:p.R547S,CARD14:NM_024110:exon12:c.G1641C:p.R547S 0.37 0.31 0.24 0.46 0.4 0.43 0.3772 0.3138 0.2088 0.4560 0.3894 0.3882 0.4191 0.4424 0.36 0.31 0.38 0.37 0.31 rs2066964 COSM1387026;COSM1387027 1(thyroid) Benign not_specified RCV000454831.1 MedGen CN169374 . . . . . . 0.595 0.057 T 0.001 0.067 B 0.0 0.013 B 0.839 0.070 N 1 0.090 P -2.095 0.002 N 1.77 0.400 T 0.44 0.033 N 0.041 0.387 -0.922 0.453 T 0.000 0.000 T . . . -0.688 0.045 0.077 0.640 0.072 0.001 0.007 N c -1.618 -1.565 0.889 0.258 0.428 0.059 0 0.71 0.172 0.034 0.136 -0.500 0.052 0.000 0.063 0.007 0.100 6.680 0.222 . . . 0.3720 0.3148 0.2262 0.4998 0.4552 0.3767 0.3792 0.3984 0.4382 0.3547 0.3106 0.2416 0.4898 0.4524 0.3862 0.3651 0.3704 het 1675.53 193 17 78171944 . G C 1675.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.222;DP=193;Dels=0.00;FS=5.682;HRun=1;HaplotypeScore=4.4645;MQ=58.82;MQ0=0;MQRankSum=0.179;QD=8.68;ReadPosRankSum=0.380;VQSLOD=4.6840;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:124,69:193:99:1706,0,3391 17 78184393 78184393 C T exonic SGSH nonsynonymous SNV SGSH:NM_000199:exon8:c.G1367A:p.R456H 0.35 0.21 0.48 0.4 0.3 0.42 0.3592 0.2245 0.5518 0.4139 0.3685 0.3281 0.3364 0.4005 0.29 0.22 0.33 0.33 0.31 rs7503034 COSM3755983 1(large_intestine) Benign|Benign not_specified|Sanfilippo_syndrome RCV000078352.5|RCV000289567.1 MedGen|MedGen:SNOMED_CT CN169374|C0026706:88393000 . . . . . . 0.193 0.209 T 0.0 0.026 B 0.0 0.013 B 0.198 0.033 N 1.000 0.090 P 1.9 0.507 L -1.1 0.773 T -0.26 0.112 N 0.032 0.012 -1.062 0.113 T 0.000 0.000 T . . . 0.116 0.105 3.780 0.921 0.209 0.046 0.102 N c -1.617 -1.693 0.029 0.139 0.707 0.730 0 -6.91 0.015 -0.459 0.068 -1.384 0.012 0.000 0.063 0.000 0.016 10.126 0.416 Alkaline-phosphatase-like\x2c core domain|Domain of unknown function DUF4976 ENSG00000262580.1|ENSG00000141527.12|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000141527.12|ENSG00000181045.10|ENSG00000262580.1|ENSG00000262580.1|ENSG00000141527.12|ENSG00000181045.10|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000141527.12|ENSG00000141527.12|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000141527.12|ENSG00000181045.10|ENSG00000262580.1|ENSG00000262580.1|ENSG00000141527.12|ENSG00000262580.1|ENSG00000262580.1|ENSG00000141527.12|ENSG00000262580.1|ENSG00000262580.1|ENSG00000181045.10|ENSG00000262580.1|ENSG00000262580.1|ENSG00000141527.12|ENSG00000141527.12|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000141527.12|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000262580.1|ENSG00000181523.8|ENSG00000141527.12|ENSG00000262580.1|ENSG00000262580.1|ENSG00000141527.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.3681 0.2135 0.5384 0.3520 0.4197 0.3530 0.3266 0.3517 0.3980 0.3098 0.2161 0.5060 0.3245 0.4390 0.3443 0.3284 0.3484 hom 937.88 31 17 78184393 . C T 937.88 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.25;VQSLOD=13.9413;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:84.20:971,84,0 17 78293189 78293189 A T exonic RNF213 nonsynonymous SNV RNF213:NM_020954:exon17:c.A3101T:p.K1034M 0.33 0.27 0.36 0.61 0.15 0.29 0.2373 0.2467 0.3587 0.6125 0.1987 0.1667 0.2059 0.2526 0.19 0.24 0.16 0.25 0.18 rs55996424 COSM3755987 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.063 0.367 T 0.957 0.528 D 0.327 0.402 B 0.105 0.197 N 1 0.090 P . . . . . . -0.63 0.185 N 0.029 0.018 -0.963 0.387 T 0.000 0.000 T . . . 0.184 0.111 4.506 0.987 0.443 0.054 0.111 N c -0.687 -0.859 0.000 0.048 0.563 0.310 0 1.35 0.210 0.144 0.158 -0.170 0.106 0.000 0.063 0.000 0.016 4.007 0.090 . . . 0.2425 0.2493 0.3526 0.2289 0.6089 0.2051 0.1593 0.2113 0.2498 0.2204 0.2428 0.3086 0.2550 0.6045 0.2143 0.1619 0.2189 hom 5153.11 162 17 78293189 . A T 5153.11 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9058;MQ=59.57;MQ0=0;QD=31.81;VQSLOD=8.7884;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5152,412,0 17 78444658 78444658 T G exonic NPTX1 synonymous SNV NPTX1:NM_002522:exon5:c.A1254C:p.G418G 0.84 0.98 0.83 0.76 0.77 0.8 0.8028 0.9498 0.8327 0.7647 0.8043 0.7811 0.8085 0.7953 0.84 0.94 0.78 0.87 0.74 rs12943620 COSM1130122 1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7988 0.9570 0.8309 0.7397 0.7622 0.8024 0.7809 0.7967 0.7870 0.8307 0.9517 0.8210 0.7881 0.7531 0.8045 0.7786 0.7916 hom 3050.73 111 17 78444658 . T G 3050.73 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.033;DP=111;Dels=0.00;FS=4.001;HRun=0;HaplotypeScore=8.4231;MQ=59.62;MQ0=0;MQRankSum=1.669;QD=27.48;ReadPosRankSum=1.510;VQSLOD=3.1476;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,110:111:99:3084,237,0 17 78445702 78445702 A G exonic NPTX1 synonymous SNV NPTX1:NM_002522:exon4:c.T907C:p.L303L 0.78 0.82 0.81 0.76 0.76 0.72 0.7767 0.8299 0.8188 0.7714 0.8034 0.7693 0.7773 0.7353 0.78 0.83 0.76 0.85 0.73 rs1131609 COSM4130783 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7703 0.8299 0.8143 0.7122 0.7627 0.7970 0.7633 0.7678 0.7214 0.7881 0.8331 0.8043 0.7550 0.7552 0.7999 0.7644 0.7607 hom 1232.68 37 17 78445702 . A G 1232.68 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6208;MQ=59.33;MQ0=0;QD=33.32;VQSLOD=10.1570;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:37:99:1266,99,0 17 78820329 78820329 C T exonic RPTOR synonymous SNV RPTOR:NM_001163034:exon11:c.C1269T:p.G423G,RPTOR:NM_020761:exon11:c.C1269T:p.G423G 0.44 0.13 0.53 0.43 0.62 0.6 0.5777 0.2135 0.6135 0.4448 0.6694 0.6273 0.6156 0.6125 0.5 0.24 0.63 0.33 0.56 rs3751945 COSM3756000;COSM3755999 1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5860 0.2104 0.6146 0.5335 0.4476 0.6676 0.6300 0.6072 0.6135 0.5072 0.2247 0.6065 0.4901 0.4466 0.6704 0.6294 0.5939 het 2332.84 188 17 78820329 . C T 2332.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.966;DP=188;Dels=0.00;FS=2.619;HRun=0;HaplotypeScore=6.3793;MQ=59.16;MQ0=0;MQRankSum=1.120;QD=12.41;ReadPosRankSum=0.389;VQSLOD=4.7273;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,96:188:99:2363,0,2102 17 78854223 78854223 A G exonic RPTOR synonymous SNV RPTOR:NM_020761:exon14:c.A1518G:p.Q506Q 0.25 0.12 0.24 0.39 0.25 0.28 0.2540 0.1415 0.2634 0.3847 0.2129 0.2544 0.2444 0.2654 0.22 0.15 0.26 0.24 0.25 rs2289759 COSM3756001 1(breast);1(haematopoietic_and_lymphoid_tissue);10(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2577 0.1375 0.2711 0.2545 0.3833 0.2082 0.2595 0.2466 0.2643 0.2190 0.1425 0.2613 0.28 0.3742 0.2036 0.2445 0.2556 het 1605.89 128 17 78854223 . A G 1605.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.446;DP=128;Dels=0.00;FS=0.657;HRun=1;HaplotypeScore=0.7887;MQ=59.00;MQ0=0;MQRankSum=-1.159;QD=12.55;ReadPosRankSum=-0.930;VQSLOD=5.9958;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,61:128:99:1636,0,1853 17 78896529 78896529 C T exonic RPTOR synonymous SNV RPTOR:NM_001163034:exon18:c.C2052T:p.T684T,RPTOR:NM_020761:exon22:c.C2526T:p.T842T 0.25 0.15 0.29 0.2 0.32 0.31 0.3670 0.2334 0.3517 0.2743 0.4215 0.4057 0.4045 0.3310 0.27 0.17 0.32 0.21 0.26 rs2271603 COSM437758 11(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2879 0.1611 0.2602 0.4229 0.1921 0.3083 0.3089 0.3071 0.2964 0.2760 0.1690 0.2679 0.4139 0.1922 0.3240 0.3314 0.3142 het 138.71 12 17 78896529 . C T 138.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.718;DP=12;Dels=0.00;FS=2.632;HRun=0;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=-1.073;QD=11.56;ReadPosRankSum=-0.583;VQSLOD=5.8973;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:169,0,149 17 78919558 78919558 C T exonic RPTOR synonymous SNV RPTOR:NM_001163034:exon22:c.C2643T:p.A881A,RPTOR:NM_020761:exon26:c.C3117T:p.A1039A 0.37 0.39 0.33 0.45 0.33 0.34 0.3595 0.3783 0.3184 0.4651 0.2985 0.3567 0.3473 0.3577 0.36 0.38 0.35 0.47 0.42 rs1567962 COSM4000341 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3515 0.3746 0.3197 0.3555 0.4507 0.2894 0.3550 0.3397 0.3544 0.3587 0.3922 0.3321 0.3767 0.4504 0.2964 0.3448 0.3634 het 808.53 92 17 78919558 . C T 808.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.526;DP=92;Dels=0.00;FS=1.929;HRun=0;HaplotypeScore=4.0258;MQ=58.83;MQ0=0;MQRankSum=0.096;QD=8.79;ReadPosRankSum=-0.046;VQSLOD=5.4333;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,32:92:99:839,0,1623 17 78921117 78921117 C T exonic RPTOR synonymous SNV RPTOR:NM_001163034:exon23:c.C2757T:p.N919N,RPTOR:NM_020761:exon27:c.C3231T:p.N1077N 0.2 0.022 0.28 0.2 0.31 0.26 0.2749 0.0651 0.2551 0.1957 0.2633 0.3234 0.3092 0.2696 0.24 0.073 0.32 0.18 0.43 rs4969231 COSM1387173 10(soft_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2699 0.0610 0.2514 0.3716 0.1944 0.2717 0.3099 0.2959 0.2494 0.2375 0.0681 0.2721 0.3642 0.2006 0.2734 0.3243 0.2837 het 573.22 55 17 78921117 . C T 573.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.952;DP=55;Dels=0.00;FS=2.329;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;MQRankSum=-1.003;QD=10.42;ReadPosRankSum=-1.711;VQSLOD=5.4839;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,26:55:99:603,0,802 17 78935197 78935197 C T exonic RPTOR synonymous SNV RPTOR:NM_001163034:exon27:c.C3135T:p.R1045R,RPTOR:NM_020761:exon31:c.C3609T:p.R1203R 0.31 0.086 0.34 0.55 0.35 0.3 0.3298 0.124 0.3562 0.5732 0.4348 0.3703 0.3557 0.3316 0.25 0.12 0.32 0.3 0.057 rs9899178 COSM4130785 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3566 0.1108 0.3759 0.3579 0.5527 0.3585 0.3601 0.3454 0.3236 0.2998 0.1310 0.3678 0.3874 0.5547 0.3723 0.3449 0.3535 het 140.65 10 17 78935197 . C T 140.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DP=10;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.214;QD=14.07;ReadPosRankSum=0.731;VQSLOD=6.1953;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:58.83:171,0,59 17 79089590 79089590 A G exonic BAIAP2 nonsynonymous SNV BAIAP2:NM_001144888:exon14:c.A1556G:p.Q519R,BAIAP2:NM_017451:exon14:c.A1556G:p.Q519R 0.17 0.11 0.36 0.15 0.16 0.17 0.1823 0.1116 0.4249 0.1432 0.1785 0.1567 0.1615 0.1821 0.14 0.12 0.15 0.18 0.16 rs4969391 . . . . . . . . . . . . . 0.433 0.094 T 0.0 0.026 B 0.001 0.040 B 0.405 0.046 N 0.996 0.810 P 0.55 0.145 N 1.13 0.386 T 0.83 0.018 N 0.087 0.265 -1.032 0.198 T 0.000 0.000 T . . . 1.361 0.227 12.58 0.990 0.505 0.929 0.567 D c -0.297 -0.072 0.919 0.265 0.696 0.567 0 4.96 0.650 4.326 0.588 1.184 0.906 1.000 0.715 0.932 0.405 8.529 0.323 . ENSG00000175866.11 Thyroid 0.1924 0.1135 0.4060 0.1155 0.1443 0.1876 0.1574 0.1774 0.1829 0.1602 0.1208 0.3804 0.1060 0.1467 0.1771 0.1690 0.1680 het 700.04 94 17 79089590 . A G 700.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.711;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6488;MQ=59.11;MQ0=0;MQRankSum=0.179;QD=7.45;ReadPosRankSum=0.293;VQSLOD=6.0043;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,34:94:99:730,0,1660 17 79095144 79095144 G A exonic AATK synonymous SNV AATK:NM_004920:exon10:c.C2283T:p.A761A,AATK:NM_001080395:exon11:c.C2592T:p.A864A 0.81 0.8 0.63 0.86 0.86 0.82 0.8247 0.8086 0.5426 0.8681 0.8742 0.8694 0.8532 0.8093 0.85 0.81 0.87 0.75 . rs8073904 COSM4130791;COSM4130790 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8147 0.8044 0.5673 0.8785 0.8694 0.8680 0.8676 0.8355 0.8070 0.8364 0.7969 0.6041 0.8775 0.8684 0.8737 0.8592 0.8381 het 371.50 39 17 79095144 . G A 371.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.327;DP=39;Dels=0.00;FS=1.238;HRun=0;HaplotypeScore=3.4033;MQ=60.00;MQ0=0;MQRankSum=0.300;QD=9.53;ReadPosRankSum=-1.328;VQSLOD=5.5382;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,16:39:99:401,0,649 17 79171966 79171966 C T exonic CEP131 synonymous SNV CEP131:NM_001009811:exon12:c.G1419A:p.V473V,CEP131:NM_001319228:exon12:c.G1419A:p.V473V,CEP131:NM_001319229:exon12:c.G1419A:p.V473V,CEP131:NM_014984:exon12:c.G1419A:p.V473V 0.0022 . 0.0058 . 0.007 . 0.0078 0.0035 0.0025 0 0.0145 0.0133 0 0.0020 0.0036 0.0011 0.0048 . . rs117891655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0047 0.0015 0.0019 0.0002 0 0.0035 0.0089 0.0034 0.0015 0.0056 0.0009 0 0 0.0006 0.0034 0.0099 0.0051 het 148.30 15 17 79171966 . C T 148.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.225;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=58.45;MQ0=0;MQRankSum=0.627;QD=9.89;ReadPosRankSum=0.193;VQSLOD=5.8386;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,8:15:99:178,0,171 17 79171967 79171967 A G exonic CEP131 nonsynonymous SNV CEP131:NM_001009811:exon12:c.T1418C:p.V473A,CEP131:NM_001319228:exon12:c.T1418C:p.V473A,CEP131:NM_001319229:exon12:c.T1418C:p.V473A,CEP131:NM_014984:exon12:c.T1418C:p.V473A 0.97 0.89 0.99 1. 1. 1. 0.9900 0.8979 0.9958 0.9997 1 0.9994 0.9932 0.9998 0.97 0.91 1. 0.96 0.62 rs2659016 COSM4130802;COSM4130803 1(thyroid) . . . . . . . . . . . 0.385 0.110 T 0.0 0.026 B 0.0 0.040 B 0.001 0.422 D 1 0.090 P 0 0.065 N 2.04 0.208 T 0.57 0.030 N 0.059 0.065 -0.962 0.388 T 0.000 0.000 T . . . 0.075 0.101 3.341 0.543 0.050 0.019 0.058 N c -0.975 -0.869 0.014 0.125 0.707 0.730 0 3.61 0.403 0.653 0.244 0.039 0.154 0.032 0.204 0.035 0.152 5.245 0.147 . . . 0.9930 0.8951 0.9948 0.9999 0.9999 1 0.9994 0.9960 0.9997 0.9711 0.8988 0.9916 1 1 1 0.9997 0.9969 hom 423.11 15 17 79171967 . A G 423.11 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=58.45;MQ0=0;QD=28.21;VQSLOD=7.8330;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:15:39.09:456,39,0 17 79173184 79173184 T C exonic CEP131 nonsynonymous SNV CEP131:NM_001009811:exon10:c.A1189G:p.T397A,CEP131:NM_001319228:exon10:c.A1189G:p.T397A,CEP131:NM_001319229:exon10:c.A1189G:p.T397A,CEP131:NM_014984:exon10:c.A1189G:p.T397A 0.94 0.87 0.97 0.96 0.97 0.96 0.9606 0.8809 0.9579 0.9612 0.9736 0.9737 0.9659 0.9540 0.94 0.89 0.97 0.92 0.85 rs2659015 COSM3756015;COSM3756016 1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.063 B 0.080 0.209 N 1 0.090 P 0.255 0.098 N 1.36 0.344 T -0.19 0.100 N 0.023 0.007 -0.924 0.451 T 0.000 0.000 T . . . -3.005 0.001 0.001 0.355 0.022 0.002 0.009 N c -2.427 -2.410 0.002 0.094 0.696 0.567 0 -4.27 0.035 -3.113 0.007 -0.502 0.051 0.000 0.063 0.001 0.043 13.911 0.632 . . . 0.9620 0.8746 0.9608 0.9753 0.9595 0.9733 0.9729 0.9670 0.9551 0.9446 0.8747 0.9726 0.9735 0.9587 0.9751 0.9726 0.9714 het 171.71 19 17 79173184 . T C 171.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.466;DP=19;Dels=0.00;FS=2.003;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;MQRankSum=0.400;QD=9.04;ReadPosRankSum=-1.910;VQSLOD=5.4282;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,8:19:99:202,0,250 17 79173224 79173224 T C exonic CEP131 synonymous SNV CEP131:NM_001009811:exon10:c.A1149G:p.T383T,CEP131:NM_001319228:exon10:c.A1149G:p.T383T,CEP131:NM_001319229:exon10:c.A1149G:p.T383T,CEP131:NM_014984:exon10:c.A1149G:p.T383T 0.91 0.8 0.96 0.92 0.97 0.96 0.9466 0.8090 0.9507 0.9137 0.9509 0.9708 0.9505 0.9467 0.92 0.81 0.97 0.9 0.85 rs2725419 COSM3756018;COSM3756017 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9485 0.7972 0.9524 0.9715 0.9132 0.9504 0.9710 0.9535 0.9471 0.9176 0.8049 0.9594 0.9735 0.9112 0.9505 0.9700 0.9571 het 162.27 18 17 79173224 . T C 162.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.272;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=60.00;MQ0=0;MQRankSum=-0.634;QD=9.01;ReadPosRankSum=2.174;VQSLOD=4.7007;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,7:18:99:192,0,299 17 79182769 79182769 G A exonic CEP131 synonymous SNV CEP131:NM_001009811:exon3:c.C231T:p.N77N,CEP131:NM_001319228:exon3:c.C231T:p.N77N,CEP131:NM_001319229:exon3:c.C231T:p.N77N,CEP131:NM_014984:exon3:c.C231T:p.N77N 0.0024 . 0.0014 . 0.011 . 0.0058 0.0023 0.0014 0.0001 0.0132 0.0081 0.0058 0.0022 0.0063 0.0023 0.0084 . . rs147013250 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0059 0.0014 0.0014 0.0002 0.0001 0.0130 0.0089 0.0044 0.0022 0.0066 0.0009 0.0012 0 0 0.0103 0.0102 0.0061 het 239.80 42 17 79182769 . G A 239.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.575;DP=42;Dels=0.00;FS=3.292;HRun=0;HaplotypeScore=0.9665;MQ=58.96;MQ0=0;MQRankSum=-0.292;QD=5.71;ReadPosRankSum=-0.320;VQSLOD=3.0477;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,12:42:99:270,0,819 17 79182778 79182778 T C exonic CEP131 synonymous SNV CEP131:NM_001009811:exon3:c.A222G:p.R74R,CEP131:NM_001319228:exon3:c.A222G:p.R74R,CEP131:NM_001319229:exon3:c.A222G:p.R74R,CEP131:NM_014984:exon3:c.A222G:p.R74R 0.42 0.023 0.61 0.63 0.44 0.58 0.4904 0.0885 0.7155 0.6567 0.5125 0.4736 0.4660 0.5521 0.35 0.1 0.47 0.35 0.34 rs62075318 COSM437766;COSM1480156 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5040 0.0797 0.6929 0.5684 0.6552 0.5047 0.4646 0.4827 0.5488 0.3739 0.0872 0.6623 0.5430 0.6488 0.5023 0.4548 0.4817 het 779.58 41 17 79182778 . T C 779.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.788;DP=41;Dels=0.00;FS=3.224;HRun=1;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=-0.043;QD=19.01;ReadPosRankSum=-0.845;VQSLOD=4.8946;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,29:41:99:810,0,273 17 79202956 79202956 T C exonic TEPSIN synonymous SNV TEPSIN:NM_144679:exon12:c.A1350G:p.P450P 0.46 0.07 0.63 0.68 0.47 0.64 0.5180 0.1347 0.7213 0.6977 0.5298 0.4935 0.4906 0.6026 0.36 0.14 0.48 0.35 0.32 rs2048057 COSM1387240;COSM4130804 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5269 0.1226 0.7020 0.5735 0.6979 0.5193 0.4804 0.4957 0.6005 0.4013 0.1296 0.6631 0.5503 0.7057 0.5216 0.4742 0.5134 het 313.89 33 17 79202956 . T C 313.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.200;DP=33;Dels=0.00;FS=3.732;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.669;QD=9.51;ReadPosRankSum=-0.452;VQSLOD=5.2032;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,15:33:99:344,0,467 17 79219501 79219503 ATG - exonic SLC38A10 nonframeshift deletion SLC38A10:NM_001037984:exon16:c.3213_3215del:p.I1072del 0.42 0.025 0.47 0.68 0.44 0.65 0.4777 0.0858 0.5716 0.7039 0.4489 0.4589 0.4517 0.6042 0.33 0.089 0.45 . . rs757389644 COSM437767 1(large_intestine);3(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4842 0.0765 0.5628 0.5686 0.7095 0.4459 0.4506 0.4542 0.6001 0.3586 0.0840 0.5458 0.5268 0.7201 0.4471 0.4401 0.4474 het 1251.06 67 17 79219500 . AATG A 1251.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.393;DP=67;FS=0.998;HRun=0;HaplotypeScore=262.7781;MQ=55.99;MQ0=0;MQRankSum=0.614;QD=18.67;ReadPosRankSum=0.614;set=variant2 GT:AD:DP:GQ:PL 0/1:35,32:67:99:1290,0,1797 17 79220224 79220224 G C exonic SLC38A10 nonsynonymous SNV SLC38A10:NM_001037984:exon16:c.C2492G:p.A831G 0.43 0.025 0.48 0.7 0.44 0.65 0.4905 0.0887 0.5792 0.7394 0.4547 0.4658 0.4673 0.6189 0.33 0.088 0.44 0.33 0.2 rs2725405 COSM3756020 2(large_intestine) . . . . . . . . . . . 0.037 0.430 D 0.666 0.391 P 0.162 0.332 B 0.009 0.012 N 1 0.090 P 1.445 0.365 L 2.93 0.535 T -1.89 0.561 N 0.034 0.172 -0.926 0.447 T 0.000 0.000 T . . . 3.367 0.463 22.9 0.968 0.306 0.153 0.186 N c -0.672 -0.805 0.792 0.240 0.672 0.522 0 0.68 0.171 0.396 0.204 0.054 0.162 0.000 0.063 0.002 0.062 5.253 0.147 . ENSG00000141577.9|ENSG00000157637.8|ENSG00000157637.8|ENSG00000224877.3|ENSG00000157637.8|ENSG00000141577.9 Adipose_Subcutaneous|Brain_Cerebellum|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial 0.4910 0.0767 0.5663 0.5733 0.7396 0.4479 0.4541 0.4602 0.6028 0.3618 0.0846 0.5478 0.5331 0.7426 0.4478 0.4425 0.4519 het 375.82 32 17 79220224 . G C 375.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.716;DP=32;Dels=0.00;FS=3.637;HRun=2;HaplotypeScore=0.8941;MQ=57.89;MQ0=0;MQRankSum=-0.544;QD=11.74;ReadPosRankSum=0.377;VQSLOD=4.2622;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,14:32:99:406,0,428 17 79409710 79409710 G A exonic BAHCC1 unknown UNKNOWN 0.18 0.23 0.2 0.004 0.34 0.12 0.2704 0.3001 0.1528 0.0018 0.4190 0.3395 0.2810 0.1486 0.29 0.25 0.31 0.15 . rs12943867 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2527 0.2701 0.1477 0.3214 0.0010 0.3772 0.3240 0.2791 0.1408 0.2970 0.2770 0.1802 0.3344 0 0.3688 0.3297 0.2996 het 172.37 19 17 79409710 . G A 172.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.127;DP=19;Dels=0.00;FS=8.318;HRun=2;HaplotypeScore=0.7887;MQ=58.78;MQ0=0;MQRankSum=-0.380;QD=9.07;ReadPosRankSum=1.310;VQSLOD=4.0052;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:202,0,350 17 79424516 79424516 A G exonic BAHCC1 unknown UNKNOWN 0.65 0.73 0.8 0.43 0.79 0.5 0.7368 0.7721 0.7350 0.4881 0.8100 0.8006 0.7131 0.5596 0.79 0.78 0.8 0.55 . rs12601317 COSM4130814 3(thyroid) . . . . . . . . . . . 0.729 0.038 T 0.0 0.026 B 0.0 0.013 B 0.994 0.079 N 1 0.090 P -0.49 0.026 N 2.8 0.111 T 0.73 0.021 N 0.139 0.186 -1.024 0.225 T 0.000 0.000 T . . . -2.590 0.003 0.001 0.414 0.030 0.001 0.007 N c -1.805 -1.762 0.876 0.255 0.520 0.209 0 -3.3 0.047 -2.131 0.014 -1.883 0.006 0.000 0.063 0.000 0.016 1.463 0.022 . ENSG00000184009.5 Muscle_Skeletal 0.7168 0.7565 0.7184 0.7467 0.4202 0.7966 0.7926 0.7514 0.5308 0.7739 0.7676 0.7392 0.7748 0.4279 0.8040 0.8095 0.7776 hom 445.60 16 17 79424516 . A G 445.60 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.85;VQSLOD=13.3923;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:36.12:479,36,0 17 79429852 79429852 C T exonic BAHCC1 unknown UNKNOWN 0.14 0.045 0.14 0.25 0.17 0.12 0.1598 0.0744 0.1439 0.2845 0.1702 0.1612 0.1539 0.1469 0.14 0.073 0.17 0.14 . rs8746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1606 0.0717 0.1458 0.1292 0.2818 0.1694 0.1632 0.1510 0.1494 0.1442 0.0768 0.1468 0.1424 0.2744 0.1732 0.1607 0.1735 het 1915.84 138 17 79429852 . C T 1915.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.530;DP=138;Dels=0.00;FS=5.115;HRun=0;HaplotypeScore=1.8663;MQ=59.43;MQ0=0;MQRankSum=0.579;QD=13.88;ReadPosRankSum=-0.383;VQSLOD=6.0559;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,71:138:99:1946,0,1715 17 79478019 79478019 G A exonic ACTG1 synonymous SNV ACTG1:NM_001199954:exon5:c.C918T:p.Y306Y,ACTG1:NM_001614:exon5:c.C918T:p.Y306Y 0.76 0.61 0.77 0.84 0.82 0.8 0.7902 0.6345 0.6847 0.8763 0.8406 0.8169 0.8068 0.7882 0.75 0.63 0.82 0.75 0.75 rs1139405 COSM1387303 3(haematopoietic_and_lymphoid_tissue) other not_specified RCV000037126.6 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7883 0.6276 0.6904 0.8026 0.8768 0.8366 0.8164 0.7851 0.7841 0.7720 0.6239 0.7309 0.7815 0.8871 0.8372 0.8294 0.8204 het 2554.51 212 17 79478019 . G A 2554.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.693;DP=212;Dels=0.00;FS=1.120;HRun=0;HaplotypeScore=8.5668;MQ=59.44;MQ0=0;MQRankSum=-0.849;QD=12.05;ReadPosRankSum=1.046;VQSLOD=4.2032;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,100:212:99:2585,0,3107 17 79508400 79508400 T C exonic FAAP100 nonsynonymous SNV FAAP100:NM_025161:exon8:c.A2449G:p.T817A 0.95 0.95 0.95 1. 0.88 0.95 0.9258 0.9536 0.9610 0.9998 0.9030 0.9036 0.9333 0.9414 0.92 0.96 0.91 0.97 0.89 rs14422 COSM4130819 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -2.595 0.000 N 1.82 0.250 T 2.15 0.003 N 0.014 0.004 -1.002 0.295 T 0.000 0.000 T . . . -0.334 0.066 0.554 0.722 0.096 0.016 0.051 N c -1.372 -1.203 0.015 0.127 0.707 0.730 0 2.88 0.325 0.878 0.276 0.040 0.155 0.607 0.276 0.014 0.122 7.370 0.258 . . . 0.9242 0.9520 0.9548 0.8876 0.9997 0.9010 0.9026 0.9205 0.9404 0.9253 0.9493 0.9451 0.8709 1 0.8901 0.9112 0.9276 hom 613.34 22 17 79508400 . T C 613.34 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.88;VQSLOD=12.6011;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:22:51.16:646,51,0 17 79511135 79511135 A G exonic FAAP100 synonymous SNV FAAP100:NM_025161:exon7:c.T2322C:p.T774T 0.7 0.52 0.82 0.74 0.74 0.8 0.7571 0.5508 0.8482 0.7522 0.7741 0.7616 0.7800 0.7971 0.7 0.56 0.77 0.58 0.78 rs8077430 COSM1178450 1(liver);1(prostate);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7631 0.5445 0.8434 0.6974 0.7534 0.7695 0.7665 0.7590 0.7938 0.7152 0.5533 0.8261 0.69 0.7673 0.7745 0.7801 0.7776 hom 2086.52 68 17 79511135 . A G 2086.52 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9445;MQ=59.02;MQ0=0;QD=30.68;VQSLOD=8.4371;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2120,175,0 17 79526402 79526402 G C exonic NPLOC4 synonymous SNV NPLOC4:NM_017921:exon17:c.C1710G:p.G570G 0.17 0.026 0.33 0.11 0.25 0.22 0.2785 0.0738 0.3872 0.1260 0.3095 0.3094 0.2788 0.2572 0.22 0.068 0.29 0.098 . rs4073997 . . . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.588 P . . . . . . . . . . . . . . . . . . . . -0.209 0.075 1.053 0.600 0.062 0.090 0.147 N n -0.172 1.714 1.0 0.983 0.722 0.854 0 -9.96 0.004 -2.707 0.009 -0.760 0.034 0.000 0.063 0.024 0.140 2.749 0.049 . . . 0.2542 0.0597 0.3366 0.2252 0.1046 0.2539 0.2877 0.2597 0.2337 0.2148 0.0669 0.3297 0.2483 0.1058 0.2691 0.2900 0.2592 hom 609.45 22 17 79526402 . G C 609.45 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;QD=27.70;VQSLOD=7.7380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:48.15:642,48,0 17 79571637 79571637 C G exonic NPLOC4 synonymous SNV NPLOC4:NM_017921:exon8:c.G771C:p.T257T 0.093 0.02 0.24 0.075 0.09 0.1 0.1094 0.0317 0.3108 0.0582 0.0763 0.0978 0.1059 0.1022 0.08 0.036 0.1 0.087 . rs11541223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1172 0.0315 0.2917 0.1410 0.0579 0.0730 0.0969 0.1261 0.0998 0.0794 0.0342 0.2601 0.1523 0.0501 0.0845 0.0949 0.0959 het 733.07 63 17 79571637 . C G 733.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.118;DP=63;Dels=0.00;FS=6.889;HRun=1;HaplotypeScore=0.6651;MQ=59.63;MQ0=0;MQRankSum=-0.007;QD=11.64;ReadPosRankSum=1.266;VQSLOD=4.3835;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,28:63:99:763,0,912 17 79580457 79580457 C A exonic NPLOC4 synonymous SNV NPLOC4:NM_017921:exon4:c.G273T:p.T91T 0.086 0.053 0.03 0.22 0.044 0.072 0.0511 0.0434 0.0183 0.2291 0.0173 0.0364 0.0438 0.0597 0.039 0.036 0.041 0.11 . rs17852306 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0495 0.0426 0.0224 0.0153 0.2245 0.0183 0.0385 0.0436 0.0590 0.0440 0.0437 0.0274 0.0099 0.2113 0.0160 0.0345 0.0407 het 764.68 66 17 79580457 . C A 764.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.922;DP=66;Dels=0.00;FS=3.710;HRun=1;HaplotypeScore=1.6988;MQ=59.43;MQ0=0;MQRankSum=-0.672;QD=11.59;ReadPosRankSum=0.452;VQSLOD=6.0429;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,29:66:99:795,0,921 17 79589242 79589242 G A exonic NPLOC4 synonymous SNV NPLOC4:NM_017921:exon3:c.C159T:p.T53T 0.64 0.71 0.66 0.78 0.41 0.65 0.5472 0.6700 0.7523 0.7704 0.4350 0.4550 0.5167 0.6330 0.53 0.68 0.46 0.54 . rs6565604 COSM3756028;COSM3756027 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5502 0.6783 0.7310 0.5117 0.7734 0.4282 0.4512 0.5221 0.6290 0.5377 0.6762 0.6850 0.4934 0.7867 0.4271 0.4513 0.4959 het 1623.30 116 17 79589242 . G A 1623.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.481;DP=116;Dels=0.00;FS=0.701;HRun=0;HaplotypeScore=4.2966;MQ=60.00;MQ0=0;MQRankSum=-0.394;QD=13.99;ReadPosRankSum=-0.266;VQSLOD=4.7827;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,63:116:99:1653,0,1114 17 79596811 79596811 C T exonic NPLOC4 synonymous SNV NPLOC4:NM_017921:exon2:c.G36A:p.P12P 0.67 0.81 0.68 0.78 0.41 0.65 0.5550 0.7562 0.7567 0.7705 0.4351 0.4556 0.5223 0.6336 0.56 0.76 0.46 0.62 . rs9894429 COSM3756030;COSM3756029 1(large_intestine) . . . . . Eye color traits . .12 20463881 rs9894429 9E-14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5569 0.7648 0.7357 0.5120 0.7731 0.4283 0.4523 0.5256 0.6297 0.5608 0.7577 0.6918 0.4934 0.7862 0.4269 0.4513 0.4980 het 2778.26 194 17 79596811 . C T 2778.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.606;DP=194;Dels=0.00;FS=1.804;HRun=0;HaplotypeScore=3.3473;MQ=59.62;MQ0=0;MQRankSum=0.283;QD=14.32;ReadPosRankSum=-0.465;VQSLOD=6.3804;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,111:194:99:2808,0,1937 17 79609410 79609410 G T exonic TSPAN10 unknown UNKNOWN 0.58 0.64 0.6 0.78 0.29 0.6 0.4684 0.5967 0.7050 0.7820 0.3283 0.3521 0.4244 0.5902 0.42 0.58 0.35 0.47 . rs7406219 . . . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.090 P . . . . . . . . . . . . . . . . . . . . -0.005 0.093 2.542 0.745 0.104 0.017 0.054 N n 0.277 1.364 1.000 0.517 0.056 0.006 0 0.235 0.146 -0.719 0.050 -0.421 0.059 0.000 0.063 0.001 0.043 4.476 0.111 . ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6 Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Nerve_Tibial|Ovary|Pancreas|Prostate|Spleen|Stomach|Testis|Thyroid|Uterus 0.4710 0.6032 0.6842 0.3900 0.7840 0.3210 0.3490 0.4257 0.5844 0.4563 0.5988 0.6277 0.3675 0.7986 0.3332 0.3599 0.4141 het 540.09 45 17 79609410 . G T 540.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.529;DP=45;Dels=0.00;FS=15.623;HRun=1;HaplotypeScore=0.9973;MQ=58.65;MQ0=0;MQRankSum=1.770;QD=12.00;ReadPosRankSum=0.103;VQSLOD=3.6806;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,20:45:99:570,0,681 17 79612161 79612161 C T exonic TSPAN10 unknown UNKNOWN 0.58 0.62 0.6 0.78 0.29 0.6 0.4710 0.5753 0.7038 0.7818 0.3276 0.3547 0.4242 0.6124 0.41 0.56 0.34 0.47 . rs6565616 COSM1387326 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4630 0.5802 0.6687 0.4035 0.7845 0.3215 0.3509 0.4287 0.5969 0.4486 0.5718 0.6262 0.3675 0.7983 0.3328 0.3602 0.4127 het 216.84 20 17 79612161 . C T 216.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.810;DP=20;Dels=0.00;FS=2.199;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.273;QD=10.84;ReadPosRankSum=0.270;VQSLOD=6.0949;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,8:20:99:247,0,402 17 79612333 79612333 G A exonic TSPAN10 unknown UNKNOWN 0.59 0.64 0.6 0.78 0.29 0.6 0.4662 0.6006 0.7052 0.7832 0.3291 0.3513 0.4201 0.6162 0.42 0.58 0.34 0.42 . rs6565617 COSM3766212 1(liver);1(thyroid);1(central_nervous_system) . . . . . . . . . . . . . . 0.003 0.102 B 0.002 0.063 B 0.621 0.108 N 1 0.090 P . . . . . . . . . 0.006 0.135 -0.942 0.423 T 0.000 0.000 T . . . -1.452 0.018 0.003 0.485 0.040 0.079 0.137 N c -1.427 -1.550 0.053 0.149 0.056 0.006 0 -6.24 0.019 0.112 0.152 -1.145 0.017 0.000 0.063 0.000 0.016 0.910 0.012 . ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6 Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Nerve_Tibial|Ovary|Pancreas|Prostate|Spleen|Stomach|Testis|Thyroid|Uterus 0.4677 0.6053 0.6703 0.3895 0.7817 0.3149 0.3469 0.4259 0.5989 0.4563 0.5996 0.6271 0.3675 0.7979 0.3330 0.3594 0.4160 het 571.13 40 17 79612333 . G A 571.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.732;DP=40;Dels=0.00;FS=8.272;HRun=0;HaplotypeScore=0.0000;MQ=57.88;MQ0=0;MQRankSum=-0.041;QD=14.28;ReadPosRankSum=0.177;VQSLOD=3.9332;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,22:40:99:601,0,534 17 79612382 79612382 T C exonic TSPAN10 unknown UNKNOWN 0.59 0.64 0.6 0.78 0.29 0.6 0.4688 0.5968 0.7028 0.7814 0.3271 0.3510 0.4272 0.6179 0.41 0.57 0.34 0.4 . rs7210026 COSM3733881 1(pancreas);1(thyroid) . . . . . . . . . . . . . . 0.757 0.415 P 0.429 0.436 B 0.000 0.504 D 0.996 0.231 P . . . . . . . . . 0.103 0.211 -1.191 0.002 T 0.000 0.000 T . . . 1.083 0.198 11.12 0.991 0.518 0.897 0.500 D c 0.161 0.150 0.459 0.206 0.056 0.006 0 4.15 0.478 4.300 0.586 1.061 0.807 1.000 0.715 0.798 0.336 13.304 0.596 Tetraspanin\x2c conserved site ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6 Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Nerve_Tibial|Ovary|Pancreas|Prostate|Spleen|Stomach|Testis|Thyroid|Uterus 0.4687 0.6032 0.6782 0.3848 0.7841 0.3085 0.3445 0.4220 0.5793 0.4554 0.5980 0.6244 0.3633 0.7985 0.3330 0.3589 0.4139 het 280.77 27 17 79612382 . T C 280.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.903;DP=27;Dels=0.00;FS=6.486;HRun=0;HaplotypeScore=3.7898;MQ=57.39;MQ0=0;MQRankSum=-1.049;QD=10.40;ReadPosRankSum=1.293;VQSLOD=2.7541;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:311,0,392 17 79612397 79612397 A G exonic TSPAN10 unknown UNKNOWN 0.84 0.95 0.78 1. 0.64 0.8 0.7303 0.8932 0.8369 0.9973 0.6072 0.6501 0.6875 0.7956 0.73 0.89 0.65 0.8 . rs6420484 COSM1564129 3(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.714 0.300 P . . . . . . . . . 0.071 0.193 -0.927 0.446 T 0.000 0.000 T . . . 0.337 0.126 6.048 0.751 0.106 0.055 0.112 N c -0.618 -0.495 0.965 0.288 0.078 0.016 0 4.15 0.478 4.100 0.573 0.138 0.222 1.000 0.715 0.971 0.463 12.123 0.530 Tetraspanin\x2c conserved site ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000182612.6|ENSG00000185527.7|ENSG00000182612.6|ENSG00000214087.4 Adrenal_Gland|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Ovary|Testis|Thyroid|Thyroid 0.7280 0.8962 0.8319 0.7168 0.9976 0.5892 0.6428 0.6968 0.7821 0.7259 0.8938 0.7974 0.6854 0.9981 0.5974 0.6296 0.6602 hom 683.47 24 17 79612397 . A G 683.47 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6040;MQ=58.05;MQ0=0;QD=28.48;VQSLOD=6.6163;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:63.12:716,63,0 17 79612413 79612413 T C exonic TSPAN10 unknown UNKNOWN 0.67 0.7 0.64 1. 0.33 0.67 0.5229 0.6444 0.7242 0.9962 0.3573 0.3904 0.4732 0.6552 0.46 0.61 0.38 0.51 . rs7210043 COSM4130820 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5182 0.6451 0.6994 0.4047 0.9971 0.3252 0.3823 0.4655 0.6417 0.4995 0.6442 0.6523 0.3733 0.9975 0.3491 0.3936 0.4507 hom 505.01 18 17 79612413 . T C 505.01 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.39;MQ0=0;QD=28.06;VQSLOD=7.8526;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:45.13:538,45,0 17 79612443 79612443 T C exonic TSPAN10 unknown UNKNOWN 0.67 0.7 0.64 1. 0.33 0.67 0.5276 0.6461 0.7265 0.9958 0.3618 0.3972 0.4842 0.6495 0.46 0.61 0.38 0.52 . rs7210193 COSM1387328 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5169 0.6430 0.6987 0.4048 0.9971 0.3254 0.3803 0.4671 0.6390 0.5005 0.6456 0.6551 0.3775 0.9975 0.3494 0.3940 0.4536 hom 379.75 12 17 79612443 . T C 379.75 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;QD=31.65;VQSLOD=8.2648;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:413,36,0 17 79612633 79612633 T C exonic TSPAN10 unknown UNKNOWN 0.085 0.054 0.033 0.22 0.044 0.071 0.0537 0.0510 0.0195 0.2202 0.0183 0.0379 0.0495 0.0643 0.038 0.038 0.038 0.098 . rs34379910 . . . . . . . . . . . . . . . . 1.0 0.899 D 0.998 0.971 D 0.000 0.843 D 0.929 0.271 P 3.085 0.876 M . . . . . . 0.599 0.625 -1.120 0.023 T 0.002 0.005 T . . . 5.213 0.704 25.6 0.998 0.850 0.969 0.715 D c 0.693 0.592 1.000 0.489 0.096 0.019 0 4.15 0.478 4.347 0.589 1.061 0.807 1.000 0.715 0.947 0.422 13.304 0.596 Tetraspanin\x2c EC2 domain ENSG00000185298.8|ENSG00000185298.8|ENSG00000204237.4|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8 Artery_Aorta|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Thyroid 0.0487 0.0433 0.0224 0.0178 0.2134 0.0180 0.0379 0.0436 0.0591 0.0439 0.0459 0.0274 0.0099 0.1994 0.0163 0.0343 0.0397 het 81.32 16 17 79612633 . T C 81.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DP=16;Dels=0.00;FS=2.622;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.910;QD=5.08;ReadPosRankSum=-1.152;VQSLOD=3.5907;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,4:16:99:111,0,347 17 79632363 79632363 C T exonic OXLD1 synonymous SNV OXLD1:NM_001039842:exon2:c.G312A:p.A104A,OXLD1:NM_001304994:exon2:c.G282A:p.A94A 0.13 0.18 0.052 0.22 0.06 0.076 0.0710 0.1566 0.0422 0.2161 0.0488 0.0472 0.0711 0.0657 0.082 0.14 0.05 0.12 0.0082 rs1128812 COSM3766214 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0669 0.1556 0.0463 0.0221 0.2121 0.0441 0.0478 0.0597 0.0650 0.0863 0.1582 0.0537 0.0099 0.1962 0.0427 0.0475 0.0662 het 663.33 40 17 79632363 . C T 663.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.985;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8268;MQ=60.00;MQ0=0;MQRankSum=-0.821;QD=16.58;ReadPosRankSum=-0.739;VQSLOD=5.4685;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,23:40:99:693,0,445 17 79637349 79637349 T C exonic CCDC137 synonymous SNV CCDC137:NM_199287:exon3:c.T363C:p.S121S 0.99 1. 0.98 1. 0.96 1. 0.9732 0.9924 0.9836 1 0.9521 0.9614 0.9732 0.9963 0.97 0.99 0.96 0.99 0.91 rs10438817 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9737 0.9936 0.9856 0.9781 0.9999 0.9560 0.9610 0.9641 0.9957 0.9695 0.9932 0.9833 0.9603 1 0.9453 0.9581 0.9592 hom 870.40 31 17 79637349 . T C 870.40 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=60.00;MQ0=0;QD=28.08;VQSLOD=7.0002;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:75.21:903,75,0 17 79637367 79637367 C G exonic CCDC137 nonsynonymous SNV CCDC137:NM_199287:exon3:c.C381G:p.H127Q 0.24 0.35 0.15 0.23 0.25 0.16 0.2046 0.3574 0.1196 0.2188 0.2011 0.2092 0.1982 0.1504 0.25 0.34 0.21 0.4 0.15 rs7226091 COSM437790 8(soft_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.024 0.264 N 1 0.090 P -1.515 0.005 N 2.38 0.158 T 1.1 0.012 N 0.015 0.235 -0.925 0.449 T 0.000 0.000 T . . . -1.275 0.023 0.005 0.626 0.068 0.006 0.026 N c -1.379 -1.276 0.071 0.156 0.707 0.730 0 0.343 0.152 0.126 0.155 -0.325 0.076 0.226 0.244 0.818 0.342 2.980 0.055 . ENSG00000185298.8|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000185359.8|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000185298.8|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000185298.8|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000185298.8|ENSG00000214087.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.1992 0.3542 0.1319 0.1815 0.2134 0.1962 0.2105 0.2047 0.1541 0.2373 0.3523 0.1647 0.1954 0.1965 0.1791 0.1955 0.2031 het 255.25 27 17 79637367 . C G 255.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.850;DP=27;Dels=0.00;FS=9.356;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=0.370;QD=9.45;ReadPosRankSum=-0.074;VQSLOD=4.3504;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,11:27:99:285,0,445 17 79639550 79639550 G A exonic CCDC137 nonsynonymous SNV CCDC137:NM_199287:exon6:c.G686A:p.R229Q 0.13 0.2 0.052 0.22 0.06 0.076 0.1129 0.2264 0.1286 0.3585 0.1622 0.0835 0.1029 0.0666 0.078 0.14 0.047 0.18 0.0082 rs11546630 . . . . . . . . . . . . . 0.495 0.079 T 0.759 0.415 P 0.174 0.339 B 0.397 0.132 N 1 0.090 P 1.52 0.385 L -2.59 0.898 D -0.31 0.121 N 0.018 0.255 -1.038 0.179 T 0.000 0.001 T . . . 1.185 0.209 11.67 0.739 0.101 0.023 0.065 N c -0.874 -1.015 0.005 0.108 0.707 0.730 0 -3.14 0.049 -0.218 0.092 0.151 0.238 0.000 0.063 0.011 0.114 7.686 0.275 . ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000204237.4|ENSG00000185359.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000204237.4|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185359.8|ENSG00000185298.8|ENSG00000204237.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.0664 0.1656 0.0484 0.0230 0.2113 0.0428 0.0469 0.0582 0.0631 0.0891 0.1686 0.0561 0.0099 0.1952 0.0425 0.0470 0.0694 het 102.60 11 17 79639550 . G A 102.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;MQRankSum=0.466;QD=9.33;ReadPosRankSum=1.408;VQSLOD=5.4423;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:133,0,160 17 79639708 79639708 C T exonic CCDC137 nonsynonymous SNV CCDC137:NM_199287:exon6:c.C844T:p.R282W 0.13 0.2 0.052 0.22 0.06 0.076 0.1048 0.2127 0.0836 0.2885 0.0928 0.0706 0.0994 0.0809 0.076 0.14 0.045 0.17 . rs11546631 COSM3766215 1(liver) . . . . . . . . . . . 0.07 0.353 T 0.001 0.067 B 0.001 0.040 B 0.000 0.004 N 1 0.090 P 0.41 0.124 N -3.01 0.922 D -0.87 0.236 N 0.028 0.420 -0.903 0.477 T 0.000 0.002 T . . . 0.314 0.124 5.831 0.788 0.120 0.018 0.056 N c -1.970 -2.091 1.000 0.467 0.707 0.730 0 -7.84 0.011 -2.161 0.014 -2.355 0.003 0.000 0.063 0.000 0.016 1.241 0.018 . ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000204237.4|ENSG00000185359.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000204237.4|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185359.8|ENSG00000185298.8|ENSG00000204237.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.0628 0.1526 0.0454 0.0219 0.2026 0.0412 0.0436 0.0548 0.0614 0.0894 0.1692 0.0562 0.0099 0.1955 0.0430 0.0472 0.0692 het 193.86 20 17 79639708 . C T 193.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.228;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=58.84;MQ0=0;MQRankSum=0.380;QD=9.69;ReadPosRankSum=-0.456;VQSLOD=5.9539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,9:20:99:224,0,315 17 79650828 79650828 T G exonic ARL16 nonsynonymous SNV ARL16:NM_001040025:exon1:c.A28C:p.S10R 0.25 0.36 0.16 0.23 0.26 0.17 0.2175 0.3783 0.1305 0.2282 0.2118 0.2250 0.2111 0.1672 0.26 0.34 0.22 0.15 . rs8066889 COSM3756031 1(thyroid);3(large_intestine) . . . . . . . . . . . 0.676 0.045 T 0.0 0.026 B 0.0 0.013 B 0.834 0.091 U 1 0.090 P 1.495 0.376 L -0.51 0.706 T -0.74 0.208 N 0.075 0.065 -1.011 0.266 T 0.000 0.000 T . . . 1.633 0.258 14.03 0.891 0.179 0.005 0.025 N c -1.017 -1.059 1.000 0.747 0.407 0.055 2 0.805 0.178 -0.035 0.121 -0.309 0.079 0.000 0.063 0.000 0.016 8.446 0.318 . ENSG00000185298.8|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000185359.8|ENSG00000262049.1|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000214087.4|ENSG00000185298.8|ENSG00000214087.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.2054 0.3582 0.1378 0.1797 0.2172 0.2005 0.2196 0.2105 0.1655 0.2446 0.3589 0.1734 0.1887 0.1959 0.1828 0.2053 0.2092 het 248.10 20 17 79650828 . T G 248.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.940;DP=20;Dels=0.00;FS=11.311;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.032;QD=12.41;ReadPosRankSum=-0.041;VQSLOD=3.6091;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:278,0,213 17 79662067 79662067 A G exonic HGS synonymous SNV HGS:NM_004712:exon13:c.A1089G:p.E363E 0.11 0.12 0.049 0.22 0.072 0.085 0.0746 0.1078 0.0470 0.2230 0.0517 0.0575 0.0721 0.0738 0.073 0.1 0.06 0.14 0.0082 rs34384005 COSM3766216 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0716 0.1047 0.0505 0.0276 0.2181 0.0491 0.0591 0.0653 0.0732 0.0787 0.1125 0.0538 0.0132 0.1979 0.0478 0.0567 0.0692 het 904.60 66 17 79662067 . A G 904.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.054;DP=66;Dels=0.00;FS=2.358;HRun=3;HaplotypeScore=1.8583;MQ=59.65;MQ0=0;MQRankSum=1.102;QD=13.71;ReadPosRankSum=-1.384;VQSLOD=5.5653;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,31:66:99:935,0,1034 17 79663880 79663880 T C exonic HGS synonymous SNV HGS:NM_004712:exon18:c.T1734C:p.G578G 0.1 0.081 0.046 0.22 0.072 0.087 0.0725 0.0778 0.0455 0.2218 0.0518 0.0583 0.0690 0.0748 0.065 0.073 0.06 0.11 0.0082 rs12951171 COSM5445663 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0691 0.0732 0.0486 0.0265 0.2173 0.0483 0.0585 0.0635 0.0736 0.0695 0.0790 0.0525 0.0132 0.2002 0.0479 0.0572 0.0665 het 1359.26 96 17 79663880 . T C 1359.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.422;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5042;MQ=59.15;MQ0=0;MQRankSum=0.156;QD=14.16;ReadPosRankSum=-2.118;VQSLOD=5.5208;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,53:96:99:1389,0,1107 17 79663931 79663931 T C exonic HGS synonymous SNV HGS:NM_004712:exon18:c.T1785C:p.P595P 0.25 0.37 0.16 0.23 0.27 0.17 0.2155 0.3743 0.1241 0.2230 0.2253 0.2194 0.2002 0.1619 0.27 0.36 0.22 0.29 0.15 rs8070488 COSM5445665 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2079 0.3687 0.1355 0.1722 0.2180 0.2218 0.2192 0.2111 0.1644 0.2495 0.3686 0.1687 0.1854 0.1968 0.2067 0.2039 0.2143 het 927.60 75 17 79663931 . T C 927.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.796;DP=75;Dels=0.00;FS=4.556;HRun=3;HaplotypeScore=2.5654;MQ=59.38;MQ0=0;MQRankSum=1.022;QD=12.37;ReadPosRankSum=1.390;VQSLOD=5.4557;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,37:75:99:958,0,1116 17 79668135 79668135 G T exonic HGS nonsynonymous SNV HGS:NM_004712:exon21:c.G2197T:p.A733S 0.1 0.079 0.046 0.22 0.072 0.085 0.0718 0.0758 0.0454 0.2216 0.0524 0.0577 0.0681 0.0737 0.066 0.073 0.061 0.11 0.0082 rs56058441 . . . . . . . . . . . . . 0.686 0.043 T 0.0 0.026 B 0.001 0.040 B 0.000 0.002 N 1 0.090 P -0.205 0.041 N 1.11 0.429 T -0.08 0.082 N 0.035 0.342 -1.097 0.044 T 0.000 0.000 T . . . -2.153 0.006 0.001 0.606 0.063 0.093 0.149 N c -2.091 -2.159 1.000 0.747 0.672 0.522 0 -9.22 0.006 -0.868 0.043 -2.244 0.004 0.000 0.063 0.106 0.191 3.847 0.084 . ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185359.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8 Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Testis|Thyroid 0.0693 0.0724 0.0490 0.0277 0.2181 0.0492 0.0589 0.0643 0.0733 0.0688 0.0776 0.0526 0.0132 0.1980 0.0479 0.0568 0.0663 het 1607.06 106 17 79668135 . G T 1607.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.307;DP=106;Dels=0.00;FS=0.794;HRun=0;HaplotypeScore=2.5740;MQ=59.61;MQ0=0;MQRankSum=-0.933;QD=15.16;ReadPosRankSum=-0.746;VQSLOD=5.3984;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,64:106:99:1637,0,1034 17 79668552 79668552 C T exonic HGS synonymous SNV HGS:NM_004712:exon22:c.C2238T:p.G746G 0.09 0.032 0.043 0.22 0.07 0.085 0.1229 0.0519 0.1458 0.3721 0.1723 0.1269 0.1117 0.0816 0.047 0.029 0.057 0.098 0.0082 rs34897798 COSM1130114 1(prostate);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0645 0.0266 0.0462 0.0286 0.2098 0.0473 0.0557 0.0599 0.0711 0.0559 0.0334 0.0525 0.0132 0.1979 0.0479 0.0564 0.0605 het 122.87 14 17 79668552 . C T 122.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.097;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=60.00;MQ0=0;MQRankSum=0.194;QD=8.78;ReadPosRankSum=0.065;VQSLOD=6.3808;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:153,0,154 17 79671714 79671714 T C exonic MRPL12 nonsynonymous SNV MRPL12:NM_002949:exon3:c.T313C:p.S105P 0.1 0.073 0.046 0.22 0.072 0.084 0.0716 0.0721 0.0453 0.2226 0.0519 0.0575 0.0702 0.0750 0.064 0.07 0.061 0.12 0.0082 rs11546280 . . Benign not_specified RCV000431255.1 MedGen CN169374 . . . . . . 0.674 0.045 T 0.0 0.026 B 0.0 0.013 B 0.002 0.388 N 1.000 0.244 P -2.105 0.002 N 1.02 0.407 T 0.93 0.034 N 0.059 0.043 -1.027 0.215 T 0.000 0.000 T . . . 0.056 0.099 3.142 0.528 0.047 0.049 0.105 N c -1.101 -0.912 1.000 0.747 0.628 0.401 0 4.62 0.568 1.458 0.346 0.069 0.176 1.000 0.715 0.023 0.138 8.487 0.321 Ribosomal protein L7/L12\x2c oligomerisation ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185359.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8|ENSG00000185298.8 Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Testis|Thyroid 0.0690 0.0689 0.0488 0.0275 0.2185 0.0491 0.0587 0.0641 0.0730 0.0681 0.0749 0.0525 0.0132 0.1969 0.0476 0.0571 0.0662 het 1559.45 156 17 79671714 . T C 1559.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.037;DP=156;Dels=0.00;FS=1.339;HRun=1;HaplotypeScore=5.1221;MQ=59.25;MQ0=0;MQRankSum=0.601;QD=10.00;ReadPosRankSum=-1.101;VQSLOD=5.0030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,62:156:99:1589,0,2353 17 79682558 79682558 T C exonic SLC25A10 synonymous SNV SLC25A10:NM_001270888:exon3:c.T264C:p.R88R,SLC25A10:NM_001270953:exon3:c.T264C:p.R88R,SLC25A10:NM_012140:exon3:c.T264C:p.R88R 0.43 0.5 0.46 0.39 0.44 0.34 0.3982 0.4885 0.4759 0.3651 0.3553 0.3952 0.3886 0.3342 0.43 0.49 0.4 0.53 0.37 rs2072700 COSM437799;COSM3756033 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3999 0.4880 0.4716 0.4624 0.3617 0.3471 0.3936 0.4169 0.3376 0.4048 0.4891 0.4690 0.4702 0.3403 0.3540 0.3717 0.3735 hom 7570.34 250 17 79682558 . T C 7570.34 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.577;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0811;MQ=59.31;MQ0=0;MQRankSum=0.251;QD=30.28;ReadPosRankSum=0.705;VQSLOD=4.4868;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,248:250:99:7505,583,0 17 79803101 79803101 A G exonic P4HB synonymous SNV P4HB:NM_000918:exon10:c.T1365C:p.I455I 0.25 0.36 0.32 0.29 0.17 0.11 0.2225 0.3469 0.3619 0.2979 0.1891 0.1907 0.2039 0.1442 0.24 0.32 0.2 0.28 0.2 rs1130674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2157 0.3373 0.3442 0.1479 0.2901 0.1647 0.1883 0.1909 0.1352 0.2350 0.3386 0.3198 0.1490 0.2658 0.1601 0.1893 0.1837 het 235.62 24 17 79803101 . A G 235.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.953;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=-0.375;QD=9.82;ReadPosRankSum=-0.548;VQSLOD=6.8153;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:266,0,284 17 79805134 79805134 G A exonic P4HB synonymous SNV P4HB:NM_000918:exon5:c.C714T:p.I238I 0.098 0.0083 0.23 0.09 0.17 0.061 0.1535 0.0322 0.2149 0.1087 0.1667 0.1804 0.1700 0.0952 0.14 0.035 0.19 0.087 0.2 rs2070871 COSM4000351 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1573 0.0305 0.2095 0.1357 0.1096 0.1606 0.1848 0.1540 0.0957 0.1328 0.0361 0.1914 0.1291 0.0883 0.1539 0.1843 0.1541 het 1479.68 101 17 79805134 . G A 1479.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.018;DP=101;Dels=0.00;FS=0.757;HRun=1;HaplotypeScore=1.7333;MQ=58.75;MQ0=0;MQRankSum=1.566;QD=14.65;ReadPosRankSum=0.941;VQSLOD=6.0204;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,52:101:99:1510,0,1255 17 79872241 79872241 A G exonic SIRT7 synonymous SNV SIRT7:NM_016538:exon7:c.T745C:p.L249L 0.99 0.95 1. 1. 1. 1. 0.9950 0.9451 0.9984 1 1 0.9997 0.9956 0.9999 0.98 0.94 1. 0.97 0.97 rs1879569 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9961 0.9450 0.9982 0.9974 1 1 0.9999 0.9978 1.0000 0.9849 0.9474 0.9976 0.9868 1 1 0.9999 0.9979 hom 2524.61 75 17 79872241 . A G 2524.61 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7725;MQ=59.38;MQ0=0;QD=33.66;VQSLOD=7.7092;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2558,214,0 17 79891147 79891147 T C exonic PYCR1 synonymous SNV PYCR1:NM_001282279:exon7:c.A810G:p.S270S,PYCR1:NM_006907:exon7:c.A903G:p.S301S,PYCR1:NM_001282280:exon8:c.A903G:p.S301S,PYCR1:NM_001282281:exon8:c.A984G:p.S328S 0.99 0.95 1. 1. 1. 1. 0.9951 0.9455 0.9984 1 1 0.9999 0.9955 0.9999 0.98 0.95 1. 0.97 0.98 rs61747618 COSM4130834 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9452 0.9982 1 1 1 0.9999 0.9980 0.9999 0.9850 0.9472 0.9976 1 1 1 1 0.9980 hom 1279.14 40 17 79891147 . T C 1279.14 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.36;MQ0=0;QD=31.98;VQSLOD=8.6405;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1312,111,0 17 79974731 79974731 T C exonic ASPSCR1 synonymous SNV ASPSCR1:NM_001330528:exon13:c.T1305C:p.D435D,ASPSCR1:NM_024083:exon14:c.T1461C:p.D487D,ASPSCR1:NM_001251888:exon15:c.T1743C:p.D581D 0.58 0.79 0.58 0.28 0.6 0.58 0.5906 0.7670 0.5144 0.2784 0.6958 0.6114 0.6333 0.5708 0.65 0.76 0.59 0.38 0.59 rs13087 COSM4130838;COSM4130837 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5829 0.7680 0.5211 0.6470 0.2734 0.6966 0.5976 0.5948 0.5747 0.6414 0.7619 0.5167 0.6093 0.2497 0.7065 0.6070 0.6276 het 749.80 63 17 79974731 . T C 749.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.696;DP=63;Dels=0.00;FS=4.010;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=0.103;QD=11.90;ReadPosRankSum=-0.352;VQSLOD=6.5244;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,29:63:99:780,0,940 17 80006957 80006957 A C exonic RFNG nonsynonymous SNV RFNG:NM_002917:exon7:c.T864G:p.H288Q 0.53 0.56 0.64 0.31 0.66 0.5 0.6313 0.5802 0.6055 0.3162 0.7645 0.6995 0.6401 0.5192 0.66 0.58 0.7 0.61 0.56 rs12948507 . . . . . . . . . . . . . 0.371 0.115 T 0.021 0.172 B 0.033 0.210 B 0.214 0.163 N 1.000 0.197 P 1.4 0.355 L 0.02 0.623 T 0.26 0.044 N 0.027 0.035 -0.986 0.335 T 0.000 0.000 T . . . -1.207 0.025 0.006 0.699 0.088 0.073 0.132 N c -1.346 -1.510 1.000 0.747 0.707 0.730 0 -7.1 0.014 -1.974 0.016 1.081 0.851 0.000 0.063 0.971 0.463 3.15 0.060 . ENSG00000169738.3|ENSG00000169733.7 Artery_Aorta|Brain_Cerebellum 0.6339 0.5827 0.6103 0.6336 0.3127 0.7807 0.6987 0.6532 0.5213 0.6565 0.5824 0.6325 0.6424 0.3084 0.7768 0.7086 0.6902 hom 3725.24 115 17 80006957 . A C 3725.24 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=58.58;MQ0=0;QD=32.39;VQSLOD=8.5631;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3725,295,0 17 80008392 80008392 G T exonic RFNG synonymous SNV RFNG:NM_002917:exon4:c.C459A:p.A153A 0.54 0.66 0.63 0.31 0.62 0.48 0.6036 0.6641 0.5924 0.3156 0.7114 0.6498 0.6174 0.4956 0.65 0.66 0.65 0.64 0.49 rs9916764 COSM329592 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6041 0.6689 0.5937 0.5971 0.3115 0.7286 0.6489 0.6170 0.4960 0.6494 0.6614 0.6205 0.61 0.3060 0.7273 0.6630 0.6591 hom 2127.06 63 17 80008392 . G T 2127.06 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.76;VQSLOD=14.2079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2160,172,0 17 80011813 80011813 C A exonic GPS1 nonsynonymous SNV GPS1:NM_001321092:exon3:c.C196A:p.H66N,GPS1:NM_001330539:exon3:c.C196A:p.H66N,GPS1:NM_001330541:exon3:c.C196A:p.H66N,GPS1:NM_004127:exon3:c.C196A:p.H66N,GPS1:NM_212492:exon3:c.C316A:p.H106N,GPS1:NM_001321089:exon4:c.C400A:p.H134N,GPS1:NM_001321090:exon4:c.C400A:p.H134N,GPS1:NM_001321091:exon4:c.C400A:p.H134N,GPS1:NM_001321093:exon4:c.C148A:p.H50N . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.043 0.413 D 0.004 0.479 B 0.015 0.477 B . . . 0.992 0.416 D 1.865 0.494 L . . . -1.18 0.701 N 0.178 0.390 -0.817 0.541 T 0.203 0.560 T 0.017 0.388 T 3.348 0.461 22.9 0.951 0.255 0.985 0.832 D c 0.150 0.265 1.000 0.747 0.672 0.522 0 4.47 0.536 7.184 0.771 0.852 0.362 1.000 0.715 0.987 0.523 17.295 0.870 . . . 4.078e-06 0 0 0 0 0 9.013e-06 0 0 . . . . . . . . het 669.11 68 17 80011813 . C A 669.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.299;DP=68;Dels=0.00;FS=7.508;HRun=1;HaplotypeScore=3.1930;MQ=58.48;MQ0=0;MQRankSum=0.093;QD=9.84;ReadPosRankSum=0.430;VQSLOD=3.0750;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,28:68:99:699,0,1212 17 80019207 80019207 G C exonic DUS1L synonymous SNV DUS1L:NM_022156:exon8:c.C720G:p.A240A 0.061 0.073 0.084 0.021 0.073 0.059 0.0614 0.0662 0.0943 0.0133 0.0252 0.0621 0.0769 0.0731 0.061 0.059 0.062 0.065 0.057 rs11542331 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.810 D . . . 1.63 0.280 T . . . . . . . . . . . . . . 0.061 0.099 3.193 0.776 0.115 0.691 0.338 D n 1.310 2.482 0.952 0.280 0.672 0.522 0 -1.28 0.088 -0.013 0.125 0.063 0.168 0.599 0.275 0.959 0.439 2.503 0.043 . . . 0.0606 0.0647 0.1008 0.0509 0.0124 0.0245 0.0620 0.0759 0.0644 0.0496 0.0633 0.0979 0.0662 0.0136 0.0226 0.0492 0.0449 het 620.99 43 17 80019207 . G C 620.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.483;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3691;MQ=59.03;MQ0=0;MQRankSum=-0.899;QD=14.44;ReadPosRankSum=-0.603;VQSLOD=5.1355;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,25:43:99:651,0,489 17 80039481 80039481 G A exonic FASN synonymous SNV FASN:NM_004104:exon37:c.C6402T:p.I2134I 0.3 0.18 0.29 0.3 0.48 0.3 0.4254 0.2128 0.2116 0.3206 0.5140 0.5238 0.4121 0.3374 0.42 0.22 0.52 0.21 0.39 rs1140616 COSM3766217 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4180 0.2069 0.2278 0.3207 0.3143 0.5171 0.5318 0.4143 0.3405 0.4258 0.2187 0.2840 0.3609 0.3325 0.5198 0.5391 0.4949 het 751.39 64 17 80039481 . G A 751.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.403;DP=64;Dels=0.00;FS=0.983;HRun=1;HaplotypeScore=3.4468;MQ=59.28;MQ0=0;MQRankSum=0.526;QD=11.74;ReadPosRankSum=-0.472;VQSLOD=6.5239;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,29:64:99:781,0,948 17 80044211 80044211 G A exonic FASN synonymous SNV FASN:NM_004104:exon22:c.C3651T:p.G1217G 0.065 0.0098 0.097 0.004 0.17 0.071 0.1687 0.0406 0.0967 0.0041 0.2181 0.2263 0.1965 0.1222 0.14 0.038 0.19 0.11 0.16 rs41283365 COSM4130848 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1359 0.0302 0.0799 0.1187 0.0022 0.1578 0.1951 0.1414 0.1074 0.1338 0.0387 0.0969 0.1424 0.0019 0.1610 0.1968 0.1680 het 167.09 20 17 80044211 . G A 167.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.396;DP=20;Dels=0.00;FS=2.199;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.555;QD=8.35;ReadPosRankSum=1.506;VQSLOD=5.2548;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,7:20:99:197,0,315 17 80051183 80051183 A G exonic FASN synonymous SNV FASN:NM_004104:exon5:c.T567C:p.N189N 0.39 0.45 0.37 0.17 0.51 0.43 0.5373 0.5225 0.4048 0.2061 0.6276 0.6015 0.5217 0.4643 0.54 0.5 0.56 0.38 0.46 rs2228309 COSM3756037 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4645 0.4835 0.2956 0.3841 0.1454 0.5515 0.5679 0.4566 0.4268 0.5230 0.5036 0.3469 0.4228 0.1609 0.5525 0.5777 0.5348 het 258.06 23 17 80051183 . A G 258.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.077;DP=23;Dels=0.00;FS=6.569;HRun=0;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;MQRankSum=1.077;QD=11.22;ReadPosRankSum=-1.693;VQSLOD=4.6394;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,12:23:99:288,0,315 17 80059596 80059596 T C exonic CCDC57 nonsynonymous SNV CCDC57:NM_198082:exon17:c.A2710G:p.R904G 0.39 0.57 0.32 0.13 0.48 0.36 0.4520 0.5692 0.2333 0.1112 0.5203 0.5312 0.4329 0.3690 0.55 0.59 0.54 0.45 . rs13949 COSM3766218;COSM3766219 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver) . . . . . . . . . . . 0.063 0.367 T 0.572 0.367 P 0.173 0.338 B . . . 1 0.090 P 0.805 0.203 L 2.86 0.105 T -1.91 0.444 N 0.061 0.215 -0.975 0.361 T 0.000 0.000 T . . . 0.943 0.184 10.33 0.941 0.237 0.051 0.107 N c -1.147 -1.278 1.000 0.747 0.632 0.406 0 -2.47 0.060 -0.701 0.051 -0.323 0.076 0.000 0.063 0.033 0.150 6.584 0.217 . ENSG00000265678.1|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000265678.1|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000265678.1|ENSG00000176155.14|ENSG00000169710.6|ENSG00000176155.14|ENSG00000169738.3|ENSG00000176155.14|ENSG00000169738.3|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000169738.3|ENSG00000266654.1|ENSG00000169718.13|ENSG00000176155.14|ENSG00000169738.3|ENSG00000169750.4|ENSG00000169710.6|ENSG00000176155.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4401 0.5692 0.2485 0.3464 0.1081 0.5195 0.5409 0.4265 0.3686 0.5214 0.5812 0.2978 0.3841 0.1154 0.5209 0.5476 0.4949 het 1209.72 92 17 80059596 . T C 1209.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.207;DP=92;Dels=0.00;FS=1.703;HRun=2;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;MQRankSum=0.509;QD=13.15;ReadPosRankSum=-0.681;VQSLOD=5.7375;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,49:92:99:1240,0,1079 17 80085633 80085633 A G exonic CCDC57 nonsynonymous SNV CCDC57:NM_198082:exon16:c.T2498C:p.M833T 0.42 0.56 0.37 0.14 0.52 0.46 0.4909 0.5777 0.2778 0.1122 0.5509 0.5678 0.4641 0.4524 0.58 0.6 0.57 0.42 . rs11077969 COSM437822;COSM4000355;COSM437821 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.884 0.073 N 1 0.090 P -0.895 0.014 N 3.35 0.112 T 1.3 0.014 N 0.573 0.612 -0.946 0.416 T 0.000 0.000 T . . . -1.901 0.009 0.002 0.278 0.014 0.001 0.008 N c -1.417 -1.346 0.915 0.264 0.615 0.372 0 0.854 0.181 0.305 0.189 -0.247 0.091 0.222 0.243 0.095 0.187 6.574 0.216 . ENSG00000265678.1|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000265678.1|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000265678.1|ENSG00000176155.14|ENSG00000169710.6|ENSG00000176155.14|ENSG00000169738.3|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000169738.3|ENSG00000266654.1|ENSG00000169718.13|ENSG00000169710.6|ENSG00000176155.14|ENSG00000141526.10|ENSG00000169738.3|ENSG00000169750.4|ENSG00000169710.6|ENSG00000176155.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4767 0.5757 0.2912 0.3913 0.1087 0.5512 0.5775 0.4612 0.4481 0.5480 0.5878 0.3544 0.4238 0.1176 0.5543 0.5841 0.5378 het 624.62 36 17 80085633 . A G 624.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.010;DP=36;Dels=0.00;FS=2.707;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.453;QD=17.35;ReadPosRankSum=-0.587;VQSLOD=6.0809;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,24:36:99:655,0,347 17 80085703 80085703 G T exonic CCDC57 nonsynonymous SNV CCDC57:NM_198082:exon16:c.C2428A:p.Q810K 0.42 0.56 0.37 0.14 0.52 0.46 0.4894 0.5686 0.2765 0.1114 0.5500 0.5680 0.4633 0.4489 0.59 0.64 0.57 0.41 . rs7213172 COSM4000358;COSM4000357;COSM4000356 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.259 0.166 T 0.0 0.026 B 0.0 0.013 B 0.703 0.101 U 1 0.090 P 0 0.065 N 3.15 0.120 T -0.1 0.144 N 0.232 0.379 -0.956 0.400 T 0.000 0.000 T . . . -0.862 0.037 0.031 0.575 0.057 0.010 0.038 N c -1.969 -1.922 0.727 0.230 0.706 0.609 0 0.67 0.170 -0.172 0.098 -0.490 0.052 0.000 0.063 0.000 0.016 6.172 0.195 . ENSG00000265678.1|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000265678.1|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000265678.1|ENSG00000176155.14|ENSG00000169710.6|ENSG00000176155.14|ENSG00000169738.3|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000169738.3|ENSG00000266654.1|ENSG00000169718.13|ENSG00000169710.6|ENSG00000176155.14|ENSG00000141526.10|ENSG00000169738.3|ENSG00000169750.4|ENSG00000169710.6|ENSG00000176155.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4777 0.5699 0.2931 0.3934 0.1096 0.5514 0.5783 0.4633 0.4467 0.5457 0.5796 0.3544 0.4238 0.1176 0.5540 0.5841 0.5379 het 1090.91 83 17 80085703 . G T 1090.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.069;DP=83;Dels=0.00;FS=5.603;HRun=1;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=-1.089;QD=13.14;ReadPosRankSum=-0.178;VQSLOD=5.5141;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,43:83:99:1121,0,1055 17 80136418 80136418 C T exonic CCDC57 nonsynonymous SNV CCDC57:NM_198082:exon10:c.G1438A:p.V480M,CCDC57:NM_001316321:exon11:c.G1438A:p.V480M 0.57 0.41 0.62 0.86 0.48 0.54 0.5103 0.4006 0.7225 0.8887 0.4530 0.4350 0.5394 0.5526 0.41 0.38 0.43 0.58 . rs7209474 COSM4130852;COSM4130853 1(pancreas);2(thyroid) . . . . . . . . . . . 0.051 0.393 T 0.757 0.415 P 0.173 0.338 B 0.804 0.093 N 1 0.090 P 1.895 0.505 L 2.82 0.278 T -0.92 0.258 N 0.113 0.123 -0.989 0.329 T 0.000 0.000 T . . . 1.903 0.289 15.60 0.993 0.601 0.015 0.048 N c -0.960 -1.145 0.008 0.117 0.677 0.550 0 -4.43 0.033 -1.044 0.036 -0.571 0.046 0.007 0.175 0.006 0.095 1.233 0.018 . ENSG00000265678.1|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000265678.1|ENSG00000265678.1|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000265678.1|ENSG00000176155.14|ENSG00000169710.6|ENSG00000176155.14|ENSG00000169738.3|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000176155.14|ENSG00000169738.3|ENSG00000266654.1|ENSG00000169718.13|ENSG00000169710.6|ENSG00000176155.14|ENSG00000169738.3|ENSG00000169750.4|ENSG00000169710.6|ENSG00000176155.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5212 0.3939 0.7061 0.6063 0.8905 0.4496 0.4225 0.5372 0.5533 0.4427 0.3791 0.6456 0.5762 0.8809 0.4459 0.4163 0.4611 het 593.69 45 17 80136418 . C T 593.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.922;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;MQRankSum=-1.422;QD=13.19;ReadPosRankSum=-0.489;VQSLOD=6.0048;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,24:45:99:624,0,549 17 80151881 80151881 G A exonic CCDC57 synonymous SNV CCDC57:NM_198082:exon5:c.C753T:p.D251D,CCDC57:NM_001316321:exon6:c.C753T:p.D251D 0.6 0.53 0.63 0.86 0.48 0.52 0.5186 0.4977 0.7291 0.8883 0.4515 0.4380 0.5315 0.5354 0.43 0.45 0.42 0.61 . rs4789722 COSM3766224;COSM3766225 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5245 0.4899 0.7105 0.6023 0.8903 0.4485 0.4202 0.5361 0.5354 0.4683 0.4713 0.6451 0.57 0.8807 0.4458 0.4154 0.4644 het 344.90 30 17 80151881 . G A 344.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.181;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.335;QD=11.50;ReadPosRankSum=0.544;VQSLOD=11.4175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,13:30:99:375,0,557 17 80159566 80159566 T C exonic CCDC57 synonymous SNV CCDC57:NM_198082:exon2:c.A255G:p.E85E,CCDC57:NM_001316321:exon3:c.A255G:p.E85E 0.82 0.88 0.82 0.93 0.71 0.76 0.7464 0.8719 0.8658 0.9366 0.6846 0.6826 0.7656 0.7700 0.75 0.87 0.69 0.85 . rs8072670 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7503 0.8732 0.8593 0.7826 0.9346 0.6855 0.6767 0.7525 0.7703 0.7489 0.8738 0.8246 0.7781 0.9309 0.6841 0.6687 0.7147 hom 3995.52 112 17 80159566 . T C 3995.52 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;QD=35.67;VQSLOD=9.3525;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3995,313,0 17 80159665 80159665 G A exonic CCDC57 synonymous SNV CCDC57:NM_198082:exon2:c.C156T:p.C52C,CCDC57:NM_001316321:exon3:c.C156T:p.C52C 0.11 0.055 0.13 0.057 0.2 0.14 0.1785 0.0882 0.0864 0.0462 0.2170 0.2245 0.2032 0.1630 0.18 0.095 0.22 0.18 . rs11653797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1746 0.0860 0.0959 0.1381 0.0427 0.2150 0.2288 0.1780 0.1639 0.1750 0.0996 0.1062 0.1656 0.0475 0.2176 0.2250 0.2051 het 1761.65 152 17 80159665 . G A 1761.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.535;DP=152;Dels=0.00;FS=14.076;HRun=0;HaplotypeScore=5.5458;MQ=59.12;MQ0=0;MQRankSum=-0.363;QD=11.59;ReadPosRankSum=-0.735;VQSLOD=3.2689;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,76:152:99:1792,0,2118 17 80195582 80195582 T C exonic SLC16A3 synonymous SNV SLC16A3:NM_001042422:exon4:c.T936C:p.G312G,SLC16A3:NM_001042423:exon4:c.T936C:p.G312G,SLC16A3:NM_001206950:exon4:c.T936C:p.G312G,SLC16A3:NM_001206951:exon4:c.T936C:p.G312G,SLC16A3:NM_001206952:exon4:c.T936C:p.G312G,SLC16A3:NM_004207:exon4:c.T936C:p.G312G 1. 1. 1. 1. 1. 1. 0.9987 0.9999 1 0.9999 0.9927 0.9983 0.9977 1 1. 1. 1. 0.8 1. rs9303026 COSM4130854 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9988 0.9999 1 0.9996 0.9998 0.9935 0.9987 0.9985 1 0.9987 1 1 1 1 0.9948 0.9987 0.9969 hom 2457.80 78 17 80195582 . T C 2457.80 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=57.93;MQ0=0;QD=31.51;VQSLOD=7.7448;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2491,202,0 17 80280865 80280865 G A exonic SECTM1 synonymous SNV SECTM1:NM_003004:exon4:c.C426T:p.P142P 0.33 0.034 0.28 0.56 0.53 0.3 0.4526 0.1153 0.2862 0.5765 0.4845 0.5311 0.4915 0.3555 0.38 0.12 0.52 0.27 0.47 rs11077986 COSM4130859 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4337 0.0935 0.2773 0.4764 0.5729 0.4491 0.5238 0.4542 0.3424 0.3898 0.1083 0.2938 0.4933 0.5844 0.4425 0.5193 0.4622 het 554.32 44 17 80280865 . G A 554.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.791;DP=44;Dels=0.00;FS=1.551;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=0.816;QD=12.60;ReadPosRankSum=-0.670;VQSLOD=6.2289;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,20:44:99:584,0,653 17 80373452 80373452 C T exonic OGFOD3 synonymous SNV OGFOD3:NM_024648:exon2:c.G126A:p.P42P,OGFOD3:NM_175902:exon2:c.G126A:p.P42P 0.33 0.27 0.25 0.67 0.25 0.19 0.2618 0.2694 0.3293 0.6910 0.2045 0.2174 0.2494 0.1864 0.24 0.27 0.22 0.26 0.15 rs4789769 COSM3756043;COSM3756044 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2657 0.2699 0.3291 0.2328 0.6968 0.2013 0.2179 0.2443 0.1861 0.2554 0.2657 0.2936 0.2517 0.6886 0.1998 0.2151 0.2327 hom 2009.97 67 17 80373452 . C T 2009.97 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=57.61;MQ0=0;QD=30.00;VQSLOD=7.4900;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:67:99:2043,165,0 17 80377690 80377690 T G exonic HEXDC synonymous SNV HEXDC:NM_001330542:exon2:c.T15G:p.T5T,HEXDC:NM_173620:exon2:c.T15G:p.T5T 0.48 0.66 0.35 0.71 0.33 0.25 0.3549 0.6299 0.4248 0.6938 0.2474 0.2916 0.3474 0.2650 0.4 0.62 0.3 0.38 0.35 rs1141463 COSM3756045 1(large_intestine) Benign not_specified RCV000454395.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3543 0.6355 0.4192 0.2982 0.6995 0.2511 0.2941 0.3358 0.2662 0.4032 0.6249 0.3935 0.3146 0.7016 0.2382 0.2892 0.3055 hom 1267.95 42 17 80377690 . T G 1267.95 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=30.19;VQSLOD=9.4295;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:42:99:1301,108,0 17 80391684 80391684 A G exonic HEXDC nonsynonymous SNV HEXDC:NM_001330542:exon5:c.A433G:p.I145V,HEXDC:NM_173620:exon5:c.A433G:p.I145V 0.56 0.5 0.62 0.9 0.37 0.46 0.4440 0.5002 0.6990 0.9125 0.3290 0.3435 0.4119 0.4328 0.38 0.47 0.34 0.49 0.35 rs4789773 COSM3756046 1(breast);1(large_intestine) Benign not_specified RCV000454829.1 MedGen CN169374 . . . . . . 0.276 0.184 T 0.001 0.245 B 0.012 0.317 B 0.001 0.415 N 0.994 0.235 P 1.765 0.459 L -2.86 0.914 D -0.65 0.193 N 0.31 0.371 -0.962 0.388 T 0.000 0.000 T . . . -0.847 0.038 0.034 0.382 0.025 0.616 0.313 D c -0.873 -0.852 0.003 0.099 0.635 0.413 0 0.036 0.134 0.080 0.145 -1.749 0.007 0.911 0.315 0.024 0.140 10.933 0.463 Glycoside hydrolase family 20\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000181396.8|ENSG00000141562.13|ENSG00000141562.13|ENSG00000169660.11|ENSG00000141562.13|ENSG00000266236.1|ENSG00000141562.13|ENSG00000141562.13|ENSG00000141562.13|ENSG00000169660.11|ENSG00000141562.13|ENSG00000141562.13|ENSG00000169660.11|ENSG00000141562.13|ENSG00000169660.11|ENSG00000141562.13|ENSG00000169660.11|ENSG00000169660.11|ENSG00000169660.11|ENSG00000181396.8|ENSG00000141562.13|ENSG00000169660.11|ENSG00000141562.13|ENSG00000141562.13|ENSG00000141562.13|ENSG00000169660.11|ENSG00000169660.11|ENSG00000141562.13|ENSG00000265458.1|ENSG00000181396.8|ENSG00000141562.13|ENSG00000266236.1|ENSG00000181396.8|ENSG00000141562.13|ENSG00000141562.13|ENSG00000141562.13|ENSG00000141562.13|ENSG00000169660.11|ENSG00000181396.8|ENSG00000141562.13|ENSG00000141562.13|ENSG00000141562.13|ENSG00000181408.2|ENSG00000169660.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Whole_Blood 0.4484 0.5002 0.6794 0.3845 0.9151 0.3213 0.3364 0.4293 0.4314 0.4191 0.4914 0.6223 0.3874 0.9148 0.3353 0.3341 0.3893 hom 1645.72 48 17 80391684 . A G 1645.72 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6640;MQ=59.52;MQ0=0;QD=34.29;VQSLOD=9.7814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:48:99:1679,138,0 17 80585094 80585094 C T exonic WDR45B synonymous SNV WDR45B:NM_019613:exon4:c.G318A:p.K106K 0.2 0.099 0.3 0.15 0.25 0.26 0.2315 0.1107 0.2832 0.1425 0.2466 0.2450 0.2434 0.2562 0.2 0.11 0.25 0.26 0.29 rs2291393 COSM3756048 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2367 0.1094 0.2828 0.2550 0.1493 0.2479 0.2435 0.2458 0.2587 0.1971 0.1130 0.2691 0.2550 0.1455 0.2411 0.2335 0.2398 het 2079.14 227 17 80585094 . C T 2079.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.292;DP=227;Dels=0.00;FS=0.500;HRun=2;HaplotypeScore=5.4372;MQ=58.74;MQ0=0;MQRankSum=0.534;QD=9.16;ReadPosRankSum=-0.495;VQSLOD=4.9136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:139,88:227:99:2109,0,3410 17 80674643 80674643 C G exonic FN3KRP synonymous SNV FN3KRP:NM_024619:exon1:c.C12G:p.L4L 0.99 0.98 1. 1. 1. 1. 0.9982 0.9785 0.9987 1 1 1.0000 0.9986 1 0.99 0.98 1. 0.16 0.66 rs2250000 COSM3756049 3(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9987 0.9768 0.9989 0.9999 1 1 0.9999 0.9994 0.9999 0.9934 0.9771 0.9964 1 1 1 1 0.9980 hom 552.33 16 17 80674643 . C G 552.33 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.05;MQ0=0;QD=34.52;VQSLOD=8.3573;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:48.14:585,48,0 17 80696410 80696410 A C exonic FN3K synonymous SNV FN3K:NM_022158:exon2:c.A187C:p.R63R 0.99 0.98 1. 1. 1. 1. 0.9980 0.9785 0.9991 1 1 0.9998 1 0.9999 0.99 0.98 1. 0.99 0.95 rs2253149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 0.9774 0.9990 0.9993 1 1 0.9999 0.9996 0.9998 0.9939 0.9789 0.9976 1 1 1 0.9999 0.9990 hom 2466.90 77 17 80696410 . A C 2466.90 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.16;MQ0=0;QD=32.04;VQSLOD=9.0866;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2500,211,0 17 80708601 80708601 C G exonic FN3K synonymous SNV FN3K:NM_022158:exon6:c.C900G:p.S300S 0.66 0.68 0.67 0.65 0.6 0.67 0.6226 0.6596 0.5855 0.6327 0.6080 0.6170 0.6424 0.6477 0.62 0.64 0.61 0.65 0.57 rs1056534 COSM4130870 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6176 0.6573 0.5804 0.6228 0.6307 0.6105 0.6134 0.6146 0.6501 0.6306 0.6501 0.6029 0.6376 0.6122 0.6049 0.6301 0.6092 hom 4694.23 152 17 80708601 . C G 4694.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.687;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3374;MQ=59.51;MQ0=0;MQRankSum=-0.501;QD=30.88;ReadPosRankSum=-0.114;VQSLOD=8.8566;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,151:152:99:4693,367,0 17 80788465 80788465 T C exonic ZNF750 synonymous SNV ZNF750:NM_024702:exon3:c.A1725G:p.A575A 0.37 0.4 0.33 0.35 0.42 0.32 0.3896 0.4068 0.4289 0.3574 0.3967 0.3949 0.3656 0.3448 0.41 0.4 0.41 0.3 0.43 rs12938126 COSM6018914 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3928 0.3989 0.4305 0.3942 0.3552 0.3959 0.3993 0.3982 0.3421 0.3913 0.4002 0.4031 0.3940 0.3507 0.4061 0.3858 0.3982 het 1333.07 114 17 80788465 . T C 1333.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.763;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6208;MQ=59.80;MQ0=0;MQRankSum=-1.010;QD=11.69;ReadPosRankSum=-0.129;VQSLOD=5.9749;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,53:114:99:1363,0,1499 17 80788492 80788492 A G exonic ZNF750 synonymous SNV ZNF750:NM_024702:exon3:c.T1698C:p.P566P 0.37 0.4 0.33 0.35 0.42 0.32 0.3898 0.4080 0.4286 0.3574 0.3970 0.3951 0.3656 0.3447 0.41 0.4 0.41 0.38 0.43 rs12948179 COSM3766232 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3930 0.3999 0.4305 0.3943 0.3552 0.3962 0.3996 0.3985 0.3420 0.3915 0.4006 0.4033 0.3940 0.3514 0.4065 0.3859 0.3980 het 1598.54 125 17 80788492 . A G 1598.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.175;DP=125;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9819;MQ=59.44;MQ0=0;MQRankSum=-0.072;QD=12.79;ReadPosRankSum=-0.215;VQSLOD=6.7662;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,63:125:99:1629,0,1648 17 80789628 80789628 T C exonic ZNF750 nonsynonymous SNV ZNF750:NM_024702:exon2:c.A703G:p.M235V 0.12 0.13 0.3 0.083 0.14 0.027 0.1693 0.1294 0.3028 0.0800 0.2393 0.1847 0.1641 0.0578 0.16 0.13 0.18 0.17 0.14 rs8074277 COSM1178452 1(prostate);1(large_intestine) . . . . . . . . . . . 0.87 0.026 T 0.001 0.067 B 0.003 0.080 B 0.815 0.092 N 0.984 0.253 P 0.22 0.096 N 2.56 0.137 T 0.23 0.046 N 0.036 0.016 -0.948 0.413 T 0.000 0.000 T . . . -2.759 0.002 0.001 0.533 0.048 0.029 0.077 N c -1.546 -1.627 1.000 0.747 0.581 0.326 0 -11.4 0.001 -2.106 0.014 -1.327 0.013 0.000 0.063 0.118 0.195 13.146 0.587 . ENSG00000141560.10|ENSG00000167363.9|ENSG00000141542.6|ENSG00000167363.9|ENSG00000141560.10 Artery_Tibial|Colon_Transverse|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg 0.1753 0.1308 0.2936 0.1386 0.0818 0.2436 0.1822 0.1780 0.0578 0.1799 0.1349 0.2638 0.1523 0.0958 0.2229 0.1997 0.2010 het 859.95 71 17 80789628 . T C 859.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.638;DP=71;Dels=0.00;FS=4.886;HRun=0;HaplotypeScore=2.6492;MQ=58.25;MQ0=0;MQRankSum=-0.429;QD=12.11;ReadPosRankSum=-0.546;VQSLOD=5.1082;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,36:71:99:890,0,962 17 80895933 80895933 A G exonic TBCD nonsynonymous SNV TBCD:NM_005993:exon36:c.A3290G:p.E1097G 0.93 0.99 0.87 0.94 0.86 0.97 0.8615 0.9625 0.8904 0.9343 0.7828 0.8177 0.8560 0.9497 0.87 0.96 0.82 0.91 . rs3785522 COSM437857;COSM5828644 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.958 0.262 P -2.58 0.000 N 2.34 0.679 T 3.63 0.001 N 0.135 0.156 -0.977 0.357 T 0.000 0.000 T . . . -0.117 0.083 1.605 0.310 0.017 0.040 0.093 N c -1.512 -1.299 0.064 0.153 0.707 0.730 0 2.91 0.328 3.121 0.499 -0.432 0.058 1.000 0.715 0.814 0.341 11.693 0.506 Armadillo-like helical ENSG00000141560.10|ENSG00000141560.10|ENSG00000141560.10|ENSG00000141560.10|ENSG00000141542.6|ENSG00000167363.9|ENSG00000141560.10|ENSG00000141560.10 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.8604 0.9637 0.8920 0.8779 0.9293 0.7762 0.8167 0.8557 0.9499 0.8533 0.9600 0.8842 0.8609 0.9186 0.7930 0.7983 0.8214 hom 1193.95 35 17 80895933 . A G 1193.95 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.11;VQSLOD=14.3552;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:35:96.30:1227,96,0 17 80899281 80899281 G A exonic TBCD synonymous SNV TBCD:NM_005993:exon38:c.G3486A:p.A1162A 0.43 0.2 0.48 0.55 0.55 0.46 0.5224 0.2924 0.5238 0.5681 0.5805 0.5448 0.5453 0.4992 0.4 0.23 0.48 0.42 . rs9390 COSM5351747;COSM5351748 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4670 0.2187 0.4712 0.5152 0.5167 0.5051 0.4804 0.4998 0.4633 0.4215 0.2248 0.4988 0.5397 0.5667 0.5129 0.4888 0.4755 het 216.37 25 17 80899281 . G A 216.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.670;DP=25;Dels=0.00;FS=3.741;HRun=0;HaplotypeScore=0.9989;MQ=58.49;MQ0=0;MQRankSum=1.274;QD=8.65;ReadPosRankSum=1.047;VQSLOD=5.0227;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,9:25:99:246,0,355 17 80923536 80923536 C T exonic B3GNTL1 synonymous SNV B3GNTL1:NM_001320743:exon3:c.G57A:p.E19E,B3GNTL1:NM_001009905:exon7:c.G591A:p.E197E,B3GNTL1:NM_001320742:exon8:c.G549A:p.E183E 0.22 0.23 0.2 0.32 0.23 0.12 0.3087 0.2728 0.3205 0.3983 0.3885 0.3289 0.2915 0.1649 0.27 0.23 0.29 0.21 0.19 rs4986144 COSM1685434 2(breast);1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2526 0.2273 0.2202 0.2058 0.3410 0.2990 0.2800 0.2412 0.1349 0.2818 0.2303 0.2172 0.1589 0.3244 0.2942 0.3093 0.2974 het 65.90 10 17 80923536 . C T 65.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.818;DP=10;Dels=0.00;FS=3.233;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.214;QD=6.59;ReadPosRankSum=0.296;VQSLOD=4.7137;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,3:10:95.89:96,0,174 17 80992932 80992932 A C exonic B3GNTL1 synonymous SNV B3GNTL1:NM_001009905:exon4:c.T321G:p.S107S,B3GNTL1:NM_001320742:exon5:c.T279G:p.S93S 0.17 0.13 0.17 0.21 0.23 0.15 0.2042 0.1373 0.1780 0.1978 0.1969 0.2278 0.2048 0.1758 0.21 0.14 0.25 0.18 0.14 rs16940609 COSM3756057 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2067 0.1362 0.1754 0.2416 0.1973 0.1959 0.2347 0.2110 0.1755 0.2017 0.1488 0.1683 0.1921 0.1739 0.2099 0.2355 0.2029 het 1548.85 137 17 80992932 . A C 1548.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.154;DP=137;Dels=0.00;FS=2.205;HRun=0;HaplotypeScore=0.8667;MQ=58.79;MQ0=0;MQRankSum=0.326;QD=11.31;ReadPosRankSum=-0.531;VQSLOD=6.4892;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,70:137:99:1579,0,1614 17 81006387 81006387 G A exonic B3GNTL1 synonymous SNV B3GNTL1:NM_001009905:exon3:c.C237T:p.H79H,B3GNTL1:NM_001320742:exon4:c.C195T:p.H65H 0.29 0.25 0.27 0.37 0.3 0.24 0.2883 0.2496 0.2525 0.4013 0.2956 0.2959 0.3311 0.2424 0.27 0.25 0.28 0.27 0.33 rs1143006 COSM4130877 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2864 0.2496 0.2491 0.3449 0.4035 0.2985 0.2874 0.3128 0.2442 0.2805 0.2475 0.2578 0.3742 0.4211 0.2971 0.2779 0.3125 het 1959.64 173 17 81006387 . G A 1959.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.632;DP=173;Dels=0.00;FS=1.196;HRun=0;HaplotypeScore=3.6211;MQ=58.30;MQ0=0;MQRankSum=-0.081;QD=11.33;ReadPosRankSum=0.439;VQSLOD=5.7226;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,83:173:99:1990,0,2123 17 81006629 81006629 C T exonic B3GNTL1 synonymous SNV B3GNTL1:NM_001009905:exon2:c.G93A:p.P31P,B3GNTL1:NM_001320742:exon3:c.G51A:p.P17P 0.19 0.22 0.16 0.21 0.22 0.14 0.2023 0.2003 0.1763 0.1978 0.1850 0.2181 0.1949 0.1679 0.23 0.2 0.24 0.2 0.19 rs7406119 COSM4415506 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2039 0.2004 0.1736 0.2274 0.1985 0.1857 0.2255 0.2052 0.1689 0.2136 0.2093 0.1611 0.1722 0.1755 0.2007 0.2276 0.2047 het 1522.26 122 17 81006629 . C T 1522.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.263;DP=122;Dels=0.00;FS=1.450;HRun=0;HaplotypeScore=3.3254;MQ=59.50;MQ0=0;MQRankSum=-1.252;QD=12.48;ReadPosRankSum=-1.242;VQSLOD=5.6722;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,61:122:99:1552,0,1545 17 81043039 81043039 A G exonic METRNL synonymous SNV METRNL:NM_001004431:exon2:c.A396G:p.P132P 0.79 0.85 0.75 0.92 0.62 0.76 0.6889 0.8322 0.8099 0.9099 0.6660 0.6114 0.6812 0.7182 0.69 0.83 0.61 0.76 0.53 rs9908756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6895 0.8370 0.8060 0.5815 0.9112 0.6579 0.6099 0.6554 0.7157 0.7077 0.8359 0.7518 0.5728 0.9251 0.6664 0.6234 0.6465 het 730.36 70 17 81043039 . A G 730.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.053;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6647;MQ=59.34;MQ0=0;MQRankSum=-0.181;QD=10.43;ReadPosRankSum=0.881;VQSLOD=6.5815;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,27:70:99:760,0,1342 18 166819 166819 T C exonic USP14 synonymous SNV USP14:NM_001037334:exon3:c.T195C:p.N65N,USP14:NM_005151:exon3:c.T195C:p.N65N 0.15 0.17 0.13 0.006 0.21 0.24 0.1809 0.1716 0.0987 0.0050 0.1911 0.2142 0.1759 0.1983 0.21 0.18 0.22 0.12 0.28 rs563155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1773 0.1668 0.1027 0.2021 0.0045 0.1814 0.2196 0.1775 0.1964 0.1889 0.1622 0.0993 0.2483 0.0055 0.1773 0.2283 0.2265 het 1511.03 149 18 166819 . T C 1511.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.116;DP=149;Dels=0.00;FS=1.365;HRun=0;HaplotypeScore=2.4476;MQ=56.24;MQ0=0;MQRankSum=-0.900;QD=10.14;ReadPosRankSum=0.671;VQSLOD=2.4330;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,66:149:99:1541,0,1949 18 252559 252559 G A exonic THOC1 synonymous SNV THOC1:NM_005131:exon9:c.C657T:p.D219D 0.95 0.84 0.98 1. 1. 1. 0.9862 0.8450 0.9921 1 1 0.9993 0.9944 0.9997 0.95 0.85 1. 0.92 . rs657138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9883 0.8418 0.9901 1 1 1 0.9993 0.9921 0.9996 0.9562 0.8478 0.9833 1 1 1 0.9992 0.9959 hom 4330.68 145 18 252559 . G A 4330.68 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=29.87;VQSLOD=9.0914;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4330,334,0 18 334742 334742 C T exonic COLEC12 nonsynonymous SNV COLEC12:NM_130386:exon6:c.G1816A:p.G606S 0.37 0.26 0.35 0.46 0.49 0.31 0.4353 0.2909 0.2599 0.4394 0.4602 0.4990 0.4368 0.3487 0.43 0.29 0.5 0.42 0.43 rs2305027 COSM4130968 1(thyroid) . . . . . . . . . . . 0.032 0.446 D 1.0 0.899 D 0.998 0.875 D 0.000 0.504 D 0.000 0.588 P 1.67 0.430 L 2.35 0.162 T -1.88 0.439 N 0.168 0.203 -0.898 0.482 T 0.000 0.000 T . . . 2.094 0.313 16.82 0.997 0.813 0.977 0.764 D c 0.457 0.373 1.000 0.747 0.615 0.372 0 4.5 0.542 3.665 0.540 0.932 0.445 0.997 0.399 0.796 0.335 14.448 0.668 C-type lectin fold|C-type lectin-like ENSG00000264433.1|ENSG00000158270.10|ENSG00000264433.1|ENSG00000264514.1|ENSG00000158270.10|ENSG00000158270.10|ENSG00000158270.10|ENSG00000158270.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.4351 0.2811 0.2672 0.5725 0.4301 0.4622 0.4945 0.4347 0.3456 0.4322 0.2910 0.3493 0.5927 0.4556 0.4716 0.5024 0.4590 het 497.73 48 18 334742 . C T 497.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.081;DP=48;Dels=0.00;FS=1.133;HRun=0;HaplotypeScore=1.8490;MQ=59.21;MQ0=0;MQRankSum=1.055;QD=10.37;ReadPosRankSum=-0.203;VQSLOD=6.4393;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,22:48:99:528,0,644 18 334758 334758 T C exonic COLEC12 synonymous SNV COLEC12:NM_130386:exon6:c.A1800G:p.P600P 0.89 0.93 0.87 0.99 0.85 0.76 0.8588 0.9143 0.9014 0.9920 0.8450 0.8348 0.8766 0.7947 0.86 0.91 0.83 0.89 0.78 rs2305026 COSM4130969 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8549 0.9144 0.9008 0.8773 0.9905 0.8416 0.8315 0.8478 0.7948 0.8698 0.9150 0.9021 0.8676 0.9951 0.8435 0.8364 0.8354 het 467.39 49 18 334758 . T C 467.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.251;DP=49;Dels=0.00;FS=1.114;HRun=1;HaplotypeScore=0.9578;MQ=59.23;MQ0=0;MQRankSum=-0.070;QD=9.54;ReadPosRankSum=-0.633;VQSLOD=6.2831;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,22:49:99:497,0,723 18 334994 334994 A G exonic COLEC12 nonsynonymous SNV COLEC12:NM_130386:exon6:c.T1564C:p.S522P 0.63 0.61 0.57 0.79 0.61 0.52 0.6262 0.6253 0.5556 0.7962 0.6356 0.6352 0.6302 0.5528 0.62 0.62 0.62 0.65 0.35 rs2305025 COSM438093 1(large_intestine) . . . . . . . . . . . 0.909 0.024 T 0.0 0.026 B 0.0 0.013 B 0.004 0.343 N 1 0.090 P -1.165 0.009 N -2.09 0.861 D 1.66 0.006 N 0.12 0.134 -0.905 0.475 T 0.000 0.000 T . . . 0.718 0.162 8.943 0.155 0.004 0.019 0.058 N c -1.302 -1.069 0.999 0.388 0.615 0.372 0 2.81 0.318 0.662 0.245 -0.235 0.093 0.524 0.269 0.972 0.466 7.425 0.261 . . . 0.6152 0.6095 0.5480 0.6702 0.7965 0.6287 0.6193 0.6192 0.5384 0.6374 0.6219 0.5981 0.6921 0.8030 0.6314 0.6323 0.6170 het 286.69 30 18 334994 . A G 286.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.223;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.672;QD=9.56;ReadPosRankSum=-0.445;VQSLOD=9.9874;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,12:30:99:317,0,481 18 580623 580623 T C exonic CETN1 nonsynonymous SNV CETN1:NM_004066:exon1:c.T215C:p.M72T 0.18 0.23 0.12 0.24 0.13 0.13 0.1416 0.2131 0.0850 0.215 0.0722 0.1425 0.1206 0.1239 0.17 0.21 0.15 0.15 0.12 rs61734344 COSM4000433 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D 0.97 0.550 D 0.997 0.850 D 0.000 0.843 D 0.000 0.588 P 2.34 0.674 M 1.1 0.390 T -5.01 0.824 D 0.349 0.411 -1.116 0.026 T 0.000 0.000 T . . . 3.924 0.528 23.5 0.985 0.413 0.958 0.659 D c 0.684 0.596 1.000 0.747 0.500 0.196 0 5.2 0.716 7.995 0.879 1.061 0.807 1.000 0.715 0.970 0.461 13.362 0.599 EF-hand domain|EF-hand domain pair ENSG00000079101.12|ENSG00000079101.12 Testis|Thyroid 0.1386 0.2139 0.0913 0.2006 0.2111 0.0765 0.1424 0.1485 0.1219 0.1548 0.2071 0.1007 0.2185 0.2257 0.0700 0.1399 0.1303 het 1107.26 81 18 580623 . T C 1107.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.705;DP=81;Dels=0.00;FS=0.838;HRun=0;HaplotypeScore=0.7340;MQ=58.56;MQ0=0;MQRankSum=-0.693;QD=13.67;ReadPosRankSum=-0.443;VQSLOD=5.5063;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,41:81:99:1137,0,1089 18 658064 658064 G C exonic TYMSOS nonsynonymous SNV TYMSOS:NM_001012716:exon1:c.C184G:p.R62G 0.34 0.38 0.22 0.55 0.15 0.36 0.3546 0.4697 0.4017 0.6048 0.2785 0.2629 0.3179 0.3855 0.2 0.34 0.13 0.33 0.041 rs2853533 COSM3756198 2(lung);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2170 0.3696 0.2224 0.1783 0.5338 0.1033 0.1347 0.1868 0.3287 0.2158 0.3697 0.2086 0.1987 0.5387 0.0968 0.1242 0.1578 het 47.17 12 18 658064 . G C 47.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.925;DP=12;Dels=0.00;FS=6.264;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.555;QD=3.93;ReadPosRankSum=0.740;VQSLOD=2.3010;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,3:12:77.17:77,0,222 18 674320 674320 A G exonic ENOSF1 synonymous SNV ENOSF1:NM_001318760:exon14:c.T774C:p.P258P,ENOSF1:NM_001126123:exon15:c.T1071C:p.P357P,ENOSF1:NM_202758:exon15:c.T1338C:p.P446P,ENOSF1:NM_001318759:exon16:c.T1317C:p.P439P,ENOSF1:NM_017512:exon16:c.T1317C:p.P439P 0.11 0.02 0.22 0.19 0.09 0.098 0.1076 0.0283 0.2277 0.1607 0.1287 0.0936 0.0903 0.0946 0.07 0.034 0.089 0.076 0.025 rs3744962 COSM4419140;COSM4419139 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1160 0.0294 0.2277 0.0859 0.1606 0.1278 0.0939 0.1051 0.0965 0.0920 0.0323 0.1718 0.0861 0.1483 0.1195 0.1092 0.1031 het 2178.69 249 18 674320 . A G 2178.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.218;DP=249;DS;Dels=0.00;FS=2.245;HRun=2;HaplotypeScore=5.8260;MQ=58.78;MQ0=0;MQRankSum=-0.010;QD=8.75;ReadPosRankSum=-1.040;VQSLOD=4.5677;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:152,97:249:99:2209,0,3820 18 691266 691266 A G exonic ENOSF1 nonsynonymous SNV ENOSF1:NM_001126123:exon5:c.T188C:p.M63T,ENOSF1:NM_001318759:exon6:c.T434C:p.M145T,ENOSF1:NM_017512:exon6:c.T434C:p.M145T,ENOSF1:NM_202758:exon6:c.T497C:p.M166T 0.26 0.29 0.35 0.094 0.35 0.21 0.3185 0.3045 0.3486 0.0990 0.3443 0.3657 0.2969 0.2218 0.34 0.31 0.36 0.27 0.3 rs2612086 COSM3721631;COSM3721630 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.086 0.326 T 0.0 0.026 B 0.0 0.013 B 0.002 0.368 N 1.000 0.588 P -1.175 0.009 N 1.63 0.280 T 0.33 0.049 N 0.006 0.014 -0.921 0.454 T 0.000 0.000 T . . . 0.425 0.135 6.825 0.651 0.075 0.209 0.210 N c -1.193 -1.119 1.000 0.747 0.732 0.924 0 -1.31 0.087 -0.022 0.123 -1.286 0.014 0.256 0.247 0.499 0.271 4.704 0.121 Enolase N-terminal domain-like;Enolase N-terminal domain-like|Mandelate racemase/muconate lactonizing enzyme\x2c N-terminal domain ENSG00000132199.14 Testis 0.3200 0.3130 0.3542 0.2742 0.0973 0.3498 0.3702 0.3274 0.2204 0.3406 0.3189 0.3353 0.3046 0.0939 0.3438 0.3789 0.3595 het 1656.69 136 18 691266 . A G 1656.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.550;DP=136;Dels=0.00;FS=4.267;HRun=0;HaplotypeScore=4.9901;MQ=59.02;MQ0=0;MQRankSum=0.478;QD=12.18;ReadPosRankSum=0.291;VQSLOD=5.3195;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,62:136:99:1687,0,2004 18 724612 724612 A G exonic YES1 synonymous SNV YES1:NM_005433:exon12:c.T1444C:p.L482L 0.99 0.96 1. 1. 1. 1. 0.9973 0.9723 0.9984 1 1 0.9997 0.9989 1 0.99 0.97 1. 0.99 1. rs537141 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9707 0.9985 1 1 1 0.9997 0.9982 1 0.9924 0.9731 1 1 1 1 1 1 hom 4202.61 142 18 724612 . A G 4202.61 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3331;MQ=58.91;MQ0=0;QD=29.60;VQSLOD=8.3167;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4202,319,0 18 907675 907675 G A exonic ADCYAP1 synonymous SNV ADCYAP1:NM_001117:exon2:c.G126A:p.A42A,ADCYAP1:NM_001099733:exon3:c.G126A:p.A42A 0.7 0.51 0.76 0.85 0.69 0.79 0.7364 0.5731 0.8328 0.8453 0.7308 0.7178 0.7078 0.7661 0.65 0.54 0.71 0.48 0.53 rs8192597 COSM438418 4(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7294 0.5293 0.8188 0.6089 0.8368 0.7110 0.7108 0.7116 0.7574 0.6723 0.5295 0.7782 0.6 0.8373 0.6958 0.7240 0.7223 hom 295.37 10 18 907675 . G A 295.37 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.54;VQSLOD=13.8421;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.07:328,27,0 18 2539016 2539016 C G exonic METTL4 nonsynonymous SNV METTL4:NM_022840:exon9:c.G1402C:p.V468L 0.97 0.91 0.99 1. 1. 1. 0.9934 0.9284 0.9971 0.9999 1 0.9997 0.9967 1 0.98 0.93 1. 0.98 0.98 rs8084295 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.117 0.192 N 1 0.223 P -1.895 0.002 N 2.42 0.154 T . . . 0.021 0.020 -0.985 0.338 T 0.000 0.000 T . . . -0.579 0.051 0.141 0.138 0.003 0.002 0.013 N c -1.294 -1.062 0.999 0.398 0.732 0.924 0 2.45 0.288 -0.186 0.096 -0.552 0.047 0.001 0.137 0.980 0.490 5.919 0.182 . . . 0.9946 0.9256 0.9968 1 0.9999 1 0.9996 0.9962 0.9999 0.9801 0.9305 0.9952 1 1 1 0.9999 0.9969 hom 2367.26 81 18 2539016 . C G 2367.26 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8300;MQ=58.71;MQ0=0;QD=29.23;VQSLOD=8.5663;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2400,181,0 18 2547480 2547480 T C exonic METTL4 synonymous SNV METTL4:NM_001308401:exon6:c.A948G:p.K316K,METTL4:NM_022840:exon6:c.A948G:p.K316K 0.028 0.0015 0.036 . 0.082 0.034 0.0723 0.0156 0.0287 0.0009 0.0962 0.1033 0.0741 0.0413 0.07 0.017 0.097 0.022 0.11 rs35591317 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0687 0.0155 0.0311 0.0369 0.0010 0.0950 0.1020 0.0750 0.0421 0.0690 0.0152 0.0335 0.0397 0.0006 0.0884 0.1046 0.0866 het 1015.39 70 18 2547480 . T C 1015.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.318;DP=70;Dels=0.00;FS=2.053;HRun=0;HaplotypeScore=2.6538;MQ=59.67;MQ0=0;MQRankSum=-0.647;QD=14.51;ReadPosRankSum=0.071;VQSLOD=6.1115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:1045,0,913 18 2547500 2547500 G T exonic METTL4 nonsynonymous SNV METTL4:NM_001308401:exon6:c.C928A:p.Q310K,METTL4:NM_022840:exon6:c.C928A:p.Q310K 0.59 0.81 0.48 0.35 0.63 0.6 0.5865 0.7988 0.3717 0.3421 0.5732 0.6239 0.5865 0.5852 0.68 0.79 0.62 0.63 0.56 rs2677879 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.055 0.002 N 1.01 0.411 T 1.39 0.009 N 0.016 0.346 -0.905 0.475 T 0.000 0.000 T . . . 0.056 0.099 3.148 0.878 0.170 0.035 0.086 N c -1.171 -0.873 0.993 0.332 0.696 0.573 0 3.08 0.344 2.766 0.471 0.105 0.201 1.000 0.715 0.998 0.697 14.154 0.648 S-adenosyl-L-methionine-dependent methyltransferase . . 0.5795 0.8002 0.4002 0.7042 0.3391 0.5764 0.6242 0.5925 0.5795 0.6503 0.8037 0.4578 0.7252 0.3579 0.5742 0.6231 0.5953 het 732.58 67 18 2547500 . G T 732.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.841;DP=67;Dels=0.00;FS=0.993;HRun=1;HaplotypeScore=1.8628;MQ=59.10;MQ0=0;MQRankSum=1.411;QD=10.93;ReadPosRankSum=-0.057;VQSLOD=6.6472;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,29:67:99:763,0,992 18 2595443 2595443 G T exonic NDC80 nonsynonymous SNV NDC80:NM_006101:exon11:c.G1044T:p.E348D 0.093 0.024 0.18 0.092 0.15 0.069 0.1305 0.0408 0.2022 0.0923 0.2256 0.1384 0.1511 0.0853 0.1 0.043 0.13 0.076 0.074 rs12456560 COSM5426102 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.138 0.258 T 0.999 0.764 D 0.967 0.699 D 0.000 0.843 D 0.000 0.491 P 2.275 0.649 M -0.09 0.641 T -1.93 0.448 N 0.261 0.318 -0.967 0.379 T 0.003 0.010 T . . . 4.912 0.660 25.0 0.998 0.878 0.958 0.659 D c 0.505 0.453 0.968 0.290 0.707 0.730 0 2.8 0.317 4.435 0.594 0.152 0.238 1.000 0.715 0.978 0.483 10.391 0.432 . . . 0.1333 0.0398 0.1932 0.0745 0.0934 0.2216 0.1338 0.1430 0.0878 0.1159 0.0378 0.1602 0.0828 0.0981 0.2046 0.1376 0.1684 het 745.10 79 18 2595443 . G T 745.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.188;DP=79;Dels=0.00;FS=1.869;HRun=0;HaplotypeScore=5.6853;MQ=59.15;MQ0=0;MQRankSum=-2.468;QD=9.43;ReadPosRankSum=-0.283;VQSLOD=3.1981;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,34:79:99:775,0,1278 18 2616457 2616457 G C exonic NDC80 nonsynonymous SNV NDC80:NM_006101:exon17:c.G1813C:p.A605P 0.18 0.12 0.14 0.12 0.23 0.31 0.2151 0.1450 0.1087 0.1293 0.1926 0.2317 0.2372 0.3179 0.21 0.15 0.23 0.15 0.2 rs9051 COSM3756105 1(large_intestine) . . . . . . . . . . . 0.154 0.242 T 0.162 0.268 B 0.062 0.255 B 0.525 0.052 N 1.000 0.205 P 1.59 0.404 L 0.81 0.485 T -1.28 0.322 N 0.212 0.260 -1.027 0.213 T 0.000 0.000 T . . . 1.472 0.239 13.17 0.985 0.414 0.091 0.147 N c -0.733 -0.648 0.569 0.215 0.732 0.924 0 1.29 0.206 0.005 0.129 0.141 0.225 0.012 0.185 0.850 0.355 5.539 0.162 . ENSG00000101574.10 Esophagus_Muscularis 0.2100 0.1332 0.1079 0.2886 0.1218 0.1938 0.2269 0.2027 0.3111 0.1849 0.1392 0.1337 0.2933 0.1444 0.1952 0.2138 0.1918 het 688.59 74 18 2616457 . G C 688.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.617;DP=74;Dels=0.00;FS=3.454;HRun=1;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=-0.963;QD=9.31;ReadPosRankSum=-0.598;VQSLOD=5.9046;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,29:74:99:719,0,1090 18 2705700 2705700 A G exonic SMCHD1 synonymous SNV SMCHD1:NM_015295:exon14:c.A1851G:p.T617T 0.58 0.27 0.73 0.71 0.72 0.65 0.6857 0.3355 0.7783 0.6741 0.7635 0.7235 0.6984 0.6488 0.61 0.35 0.73 0.48 . rs635132 . . Benign not_specified RCV000246579.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6942 0.3262 0.7773 0.6510 0.6731 0.7586 0.7261 0.6915 0.6527 0.6069 0.3272 0.7309 0.6767 0.6565 0.7304 0.7277 0.6763 hom 1097.95 39 18 2705700 . A G 1097.95 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=58.81;MQ0=0;QD=28.15;VQSLOD=8.3997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1131,102,0 18 2707619 2707619 G A exonic SMCHD1 nonsynonymous SNV SMCHD1:NM_015295:exon16:c.G2122A:p.V708I 0.69 0.71 0.78 0.65 0.69 0.63 0.6939 0.7190 0.8032 0.6097 0.6341 0.7018 0.7060 0.6380 0.71 0.73 0.7 0.65 . rs2276092 COSM3932817;COSM3932818;COSM3932816 3(haematopoietic_and_lymphoid_tissue);1(kidney);1(urinary_tract) Benign not_specified RCV000251853.1 MedGen CN169374 . . . . . . 0.493 0.079 T 0.0 0.026 B 0.001 0.040 B 0.429 0.128 N 1 0.090 P 0.55 0.145 N 1.95 0.225 T -0.36 0.131 N 0.038 0.091 -1.032 0.199 T 0.000 0.000 T . . . 0.901 0.180 10.08 0.816 0.133 0.030 0.078 N c -1.017 -0.941 1.000 0.462 0.732 0.924 0 0.384 0.154 0.306 0.189 -0.167 0.106 0.000 0.063 0.987 0.523 11.481 0.494 . . . 0.6958 0.7220 0.7956 0.6624 0.6088 0.6433 0.7052 0.7072 0.6356 0.6964 0.7255 0.7763 0.6656 0.6058 0.6322 0.7007 0.6916 het 1239.80 123 18 2707619 . G A 1239.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.768;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8284;MQ=58.83;MQ0=0;MQRankSum=1.025;QD=10.08;ReadPosRankSum=0.409;VQSLOD=6.4097;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,55:123:99:1270,0,1735 18 2724930 2724930 A T exonic SMCHD1 nonsynonymous SNV SMCHD1:NM_015295:exon21:c.A2637T:p.K879N 0.21 0.017 0.29 0.19 0.46 0.16 0.4180 0.1100 0.3980 0.25 0.5368 0.5058 0.4446 0.2394 0.33 0.083 0.44 0.24 . rs633422 COSM3756110;COSM3756111;COSM3756109 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Uncertain significance\x2cBenign not_specified\x2cnot_specified RCV000366138.1\x2cRCV000253585.1 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 0.345 0.125 T 0.0 0.026 B 0.0 0.013 B 0.001 0.436 D 0.284 0.336 P 1.175 0.300 L 1.8 0.253 T -0.65 0.189 N 0.041 0.069 -0.904 0.476 T 0.000 0.000 T . . . 2.011 0.303 16.28 0.972 0.324 0.817 0.407 D c -0.379 -0.209 0.996 0.347 0.732 0.924 0 3.1 0.346 1.035 0.296 1.007 0.626 0.992 0.373 1.000 0.888 5.757 0.173 . . . 0.3398 0.0702 0.2967 0.2995 0.1661 0.4764 0.4356 0.3639 0.1928 0.3269 0.0822 0.3158 0.3245 0.1696 0.4707 0.4492 0.3984 hom 343.34 11 18 2724930 . A T 343.34 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.21;VQSLOD=13.1993;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:376,30,0 18 2763697 2763697 C T exonic SMCHD1 synonymous SNV SMCHD1:NM_015295:exon37:c.C4629T:p.G1543G 0.28 0.26 0.32 0.19 0.46 0.16 0.3721 0.3015 0.3031 0.1741 0.4914 0.4505 0.4058 0.1978 0.4 0.3 0.44 0.3 . rs483547 COSM1388387;COSM1388386;COSM1388388 1(oesophagus);1(large_intestine) Benign not_specified RCV000250084.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3615 0.2870 0.3050 0.3085 0.1655 0.4807 0.4443 0.3788 0.1929 0.3911 0.3009 0.3437 0.3444 0.1675 0.4711 0.4511 0.4133 hom 1639.16 59 18 2763697 . C T 1639.16 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.674;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;MQRankSum=1.497;QD=27.78;ReadPosRankSum=1.145;VQSLOD=7.8329;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,58:59:99:1672,132,0 18 2885118 2885118 C T exonic EMILIN2 synonymous SNV EMILIN2:NM_032048:exon3:c.C414T:p.N138N 0.17 0.1 0.24 0.012 0.37 0.18 0.3074 0.1389 0.2200 0.0079 0.5381 0.3826 0.3345 0.2260 0.29 0.15 0.37 0.11 0.28 rs592120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3059 0.1351 0.2236 0.2839 0.0079 0.5388 0.3806 0.3087 0.2071 0.3155 0.1368 0.2105 0.2733 0.0043 0.5352 0.4036 0.3941 het 1048.71 89 18 2885118 . C T 1048.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.384;DP=89;Dels=0.00;FS=5.669;HRun=0;HaplotypeScore=1.6006;MQ=59.11;MQ0=0;MQRankSum=0.651;QD=11.78;ReadPosRankSum=0.217;VQSLOD=5.4857;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,45:89:99:1079,0,1271 18 3067278 3067278 A G exonic MYOM1 synonymous SNV MYOM1:NM_019856:exon37:c.T4752C:p.G1584G,MYOM1:NM_003803:exon38:c.T5040C:p.G1680G 0.59 0.85 0.42 0.53 0.47 0.57 0.5696 0.8033 0.4531 0.5810 0.6215 0.5350 0.5344 0.6015 0.57 0.78 0.47 0.53 . rs2230164 COSM1388527 1(oesophagus);1(thyroid);1(large_intestine) Benign not_specified RCV000222260.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4985 0.7890 0.3486 0.4614 0.5278 0.5879 0.4685 0.4851 0.5672 0.5761 0.7921 0.3807 0.47 0.5453 0.5833 0.4680 0.5286 het 252.73 22 18 3067278 . A G 252.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.499;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=57.87;MQ0=0;MQRankSum=0.616;QD=11.49;ReadPosRankSum=-0.833;VQSLOD=6.4927;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,14:22:99:283,0,236 18 3075746 3075746 G A exonic MYOM1 synonymous SNV MYOM1:NM_019856:exon34:c.C4374T:p.A1458A,MYOM1:NM_003803:exon35:c.C4662T:p.A1554A 0.18 0.17 0.18 0.19 0.2 0.17 0.2142 0.1829 0.1915 0.2072 0.3389 0.2178 0.2314 0.1821 0.16 0.14 0.17 0.14 . rs1143657 COSM148374 1(stomach);1(prostate);1(thyroid) Benign not_specified RCV000220018.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1782 0.1496 0.1452 0.2153 0.1601 0.3193 0.1666 0.1816 0.1607 0.1986 0.1507 0.1647 0.2318 0.1765 0.3359 0.1958 0.2336 het 171.68 18 18 3075746 . G A 171.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.933;DP=18;Dels=0.00;FS=2.003;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.133;QD=9.54;ReadPosRankSum=-1.644;VQSLOD=5.5040;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:202,0,274 18 3126811 3126811 A G exonic MYOM1 nonsynonymous SNV MYOM1:NM_019856:exon18:c.T2591C:p.I864T,MYOM1:NM_003803:exon19:c.T2879C:p.I960T 0.25 0.32 0.2 0.32 0.16 0.24 0.1997 0.2747 0.2458 0.3306 0.1835 0.1523 0.1863 0.2538 0.18 0.26 0.14 0.25 . rs1071600 COSM148375 3(haematopoietic_and_lymphoid_tissue);1(stomach);1(prostate) Benign not_specified RCV000214925.1 MedGen CN169374 . . . . . . 1.0 0.035 T 0.0 0.026 B 0.002 0.063 B 0.002 0.377 N 1.000 0.194 P -0.345 0.033 N 0.57 0.544 T 1.58 0.007 N 0.012 0.001 -0.949 0.413 T 0.000 0.000 T . . . 0.079 0.101 3.381 0.599 0.062 0.099 0.154 N c -1.086 -0.898 1.000 0.747 0.595 0.332 0 1.43 0.215 0.467 0.216 0.145 0.233 0.007 0.175 0.990 0.544 7.397 0.260 Fibronectin type III|Immunoglobulin-like fold . . 0.1929 0.2687 0.2312 0.1560 0.3210 0.1811 0.1432 0.1946 0.2424 0.1926 0.2625 0.2243 0.1523 0.3081 0.1873 0.1403 0.1864 het 559.97 45 18 3126811 . A G 559.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.735;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=1.283;QD=12.44;ReadPosRankSum=-1.260;VQSLOD=6.4133;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,22:45:99:590,0,621 18 3168816 3168816 G A exonic MYOM1 synonymous SNV MYOM1:NM_003803:exon9:c.C1338T:p.N446N,MYOM1:NM_019856:exon9:c.C1338T:p.N446N 0.28 0.33 0.21 0.28 0.24 0.32 0.2620 0.3255 0.1886 0.2747 0.2263 0.2619 0.2360 0.2855 0.28 0.31 0.26 0.29 . rs2230167 COSM4000396 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000216509.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2571 0.3226 0.1875 0.2727 0.2792 0.2254 0.2633 0.2612 0.2827 0.2816 0.3193 0.2196 0.2781 0.2770 0.2443 0.2740 0.2566 het 732.05 92 18 3168816 . G A 732.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.823;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9967;MQ=58.66;MQ0=0;MQRankSum=1.026;QD=7.96;ReadPosRankSum=0.758;VQSLOD=5.9150;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,31:92:99:762,0,1497 18 3173964 3173964 G A exonic MYOM1 synonymous SNV MYOM1:NM_003803:exon8:c.C1146T:p.H382H,MYOM1:NM_019856:exon8:c.C1146T:p.H382H 0.32 0.4 0.23 0.27 0.31 0.33 0.3010 0.3991 0.2033 0.2496 0.2929 0.3103 0.2617 0.3061 0.34 0.39 0.32 0.35 . rs2230163 COSM4000397 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000223430.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2975 0.4106 0.2111 0.3182 0.2491 0.2918 0.3126 0.2966 0.3053 0.3386 0.4137 0.2506 0.3278 0.2454 0.3003 0.3221 0.2924 het 884.10 77 18 3173964 . G A 884.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DP=77;Dels=0.00;FS=0.871;HRun=0;HaplotypeScore=0.0000;MQ=57.46;MQ0=0;MQRankSum=0.556;QD=11.48;ReadPosRankSum=0.647;VQSLOD=4.9697;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,37:77:99:914,0,881 18 3176040 3176040 C G exonic MYOM1 nonsynonymous SNV MYOM1:NM_003803:exon6:c.G1022C:p.G341A,MYOM1:NM_019856:exon6:c.G1022C:p.G341A 0.76 0.78 0.76 0.74 0.71 0.79 0.7384 0.7990 0.7797 0.7506 0.7606 0.7042 0.7387 0.7961 0.75 0.81 0.72 0.77 . rs8099021 COSM5021969 1(bone) Benign not_specified RCV000216131.1 MedGen CN169374 . . . . . . 0.798 0.206 T 0.0 0.026 B 0.001 0.040 B 0.943 0.083 N 1 0.090 P 0.62 0.158 N -0.78 0.736 T 0.65 0.023 N 0.027 0.009 -0.916 0.462 T 0.000 0.000 T . . . -1.049 0.030 0.013 0.223 0.009 0.139 0.179 N c -0.891 -0.788 1.000 0.467 0.601 0.348 0 1.97 0.252 0.168 0.163 -0.313 0.078 0.682 0.282 0.306 0.238 14.746 0.690 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.7431 0.8056 0.7748 0.6965 0.7516 0.7706 0.7079 0.7388 0.7960 0.7593 0.8089 0.7363 0.6954 0.7395 0.7791 0.7326 0.7291 het 241.46 40 18 3176040 . C G 241.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.223;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;MQRankSum=0.693;QD=6.04;ReadPosRankSum=0.202;VQSLOD=5.5819;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,13:40:99:271,0,705 18 3176063 3176063 C T exonic MYOM1 synonymous SNV MYOM1:NM_003803:exon6:c.G999A:p.G333G,MYOM1:NM_019856:exon6:c.G999A:p.G333G 0.27 0.24 0.22 0.27 0.31 0.33 0.2861 0.2650 0.1955 0.2464 0.2904 0.3057 0.2523 0.3034 0.29 0.26 0.31 0.29 . rs2230162 COSM4000398 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000216095.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2829 0.2704 0.1980 0.3056 0.2455 0.2891 0.3079 0.2853 0.2997 0.2992 0.2791 0.2315 0.3179 0.2435 0.3008 0.3207 0.2859 het 402.10 56 18 3176063 . C T 402.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.368;DP=56;Dels=0.00;FS=1.046;HRun=1;HaplotypeScore=0.7887;MQ=59.67;MQ0=0;MQRankSum=-0.573;QD=7.18;ReadPosRankSum=0.026;VQSLOD=5.7597;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,20:56:99:432,0,914 18 3188976 3188976 A G exonic MYOM1 nonsynonymous SNV MYOM1:NM_003803:exon4:c.T541C:p.S181P,MYOM1:NM_019856:exon4:c.T541C:p.S181P 0.44 0.16 0.4 0.84 0.4 0.49 0.4374 0.1976 0.4007 0.8196 0.4921 0.4155 0.4131 0.4736 0.34 0.19 0.42 0.4 . rs1962519 COSM3756133 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign not_specified RCV000217589.1 MedGen CN169374 . . . . . . 0.088 0.323 T 0.978 0.568 D 0.719 0.530 P . . . 1.000 0.186 P 1.78 0.463 L 0.73 0.544 T -1.25 0.330 N 0.167 0.204 -0.993 0.318 T 0.000 0.000 T . . . 2.095 0.313 16.82 0.988 0.456 0.095 0.151 N c -0.454 -0.503 0.942 0.275 0.554 0.246 0 1.27 0.205 0.196 0.169 1.171 0.901 0.440 0.263 0.092 0.186 7.638 0.273 . . . 0.4438 0.1960 0.3987 0.3927 0.8208 0.5039 0.4177 0.4294 0.4746 0.4044 0.2102 0.3940 0.4262 0.8229 0.5152 0.4448 0.4371 het 1627.28 103 18 3188976 . A G 1627.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.415;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3595;MQ=59.81;MQ0=0;MQRankSum=-0.793;QD=15.80;ReadPosRankSum=-0.623;VQSLOD=4.3410;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:43,59:103:99:1657,0,1008 18 3452223 3452223 T - exonic TGIF1 frameshift deletion TGIF1:NM_170695:exon1:c.246delT:p.P83Lfs*50 0.26 0.34 0.23 0.011 0.43 0.23 0.3296 0.3188 0.1821 0.0098 0.3990 0.4129 0.3611 0.2645 0.36 0.31 0.38 0.14 0.098 rs11571510 COSM296436 1(upper_aerodigestive_tract);11(large_intestine);1(central_nervous_system) Benign not_specified RCV000455795.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3190 0.3099 0.1968 0.4177 0.0117 0.3876 0.4054 0.3592 0.2582 0.3607 0.3271 0.2410 0.4533 0.0129 0.4060 0.4128 0.3638 het 405.02 33 18 3452222 . CT C 405.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.604;DP=33;FS=0.000;HRun=1;HaplotypeScore=91.0296;MQ=59.10;MQ0=0;MQRankSum=-1.549;QD=12.27;ReadPosRankSum=-1.507;set=variant2 GT:AD:DP:GQ:PL 0/1:18,15:33:99:444,0,640 18 3729175 3729175 C T exonic DLGAP1 synonymous SNV DLGAP1:NM_001003809:exon4:c.G645A:p.P215P,DLGAP1:NM_001242762:exon4:c.G687A:p.P229P,DLGAP1:NM_001242763:exon4:c.G687A:p.P229P,DLGAP1:NM_001242764:exon4:c.G669A:p.P223P,DLGAP1:NM_001242765:exon4:c.G645A:p.P215P,DLGAP1:NM_001242766:exon4:c.G645A:p.P215P,DLGAP1:NM_001308390:exon4:c.G669A:p.P223P,DLGAP1:NM_001242761:exon7:c.G1551A:p.P517P,DLGAP1:NM_004746:exon7:c.G1551A:p.P517P 0.25 0.35 0.17 0.36 0.11 0.22 0.1679 0.3212 0.1379 0.3382 0.1741 0.1129 0.1964 0.2197 0.17 0.3 0.11 0.24 0.11 rs3745051 COSM4130982;COSM4130981;COSM4130980;COSM4130979;COSM4130983 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1625 0.3130 0.1329 0.1697 0.3340 0.1619 0.1092 0.1528 0.2164 0.1815 0.3054 0.1543 0.1967 0.3398 0.1473 0.1042 0.1455 het 685.66 47 18 3729175 . C T 685.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.583;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=57.75;MQ0=0;MQRankSum=0.451;QD=14.59;ReadPosRankSum=-0.319;VQSLOD=4.2740;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,25:47:99:716,0,540 18 5292030 5292030 A G exonic ZBTB14 synonymous SNV ZBTB14:NM_003409:exon3:c.T177C:p.T59T,ZBTB14:NM_001143823:exon4:c.T177C:p.T59T,ZBTB14:NM_001243702:exon4:c.T177C:p.T59T,ZBTB14:NM_001243704:exon4:c.T177C:p.T59T 0.84 0.93 0.84 0.83 0.8 0.8 0.8255 0.9255 0.7809 0.8185 0.8353 0.8269 0.8245 0.7880 0.86 0.92 0.83 0.92 0.78 rs620652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8234 0.9293 0.7855 0.8353 0.8170 0.8353 0.8270 0.8286 0.7888 0.8570 0.9242 0.7978 0.8444 0.8302 0.8288 0.8331 0.8245 het 1344.69 117 18 5292030 . A G 1344.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.680;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7080;MQ=59.45;MQ0=0;MQRankSum=0.404;QD=11.49;ReadPosRankSum=2.163;VQSLOD=5.6109;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,51:117:99:1375,0,1859 18 5410574 5410574 A G exonic EPB41L3 synonymous SNV EPB41L3:NM_001281533:exon13:c.T1605C:p.T535T,EPB41L3:NM_001281534:exon13:c.T1605C:p.T535T,EPB41L3:NM_001330557:exon13:c.T1605C:p.T535T,EPB41L3:NM_012307:exon14:c.T2112C:p.T704T,EPB41L3:NM_001281535:exon15:c.T1278C:p.T426T 0.71 0.28 0.82 0.92 0.91 0.8 0.8531 0.3796 0.8570 0.9181 0.9366 0.9194 0.8866 0.8111 . . . 0.66 0.78 rs3817466 COSM4595235;COSM4595236 1(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8624 0.3719 0.8552 0.9052 0.9158 0.9424 0.9183 0.8821 0.8064 0.7729 0.3863 0.8481 0.9007 0.9110 0.9442 0.9267 0.9080 hom 3825.92 129 18 5410574 . A G 3825.92 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.8492;MQ=58.45;MQ0=0;QD=29.66;VQSLOD=6.3958;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,128:129:99:3792,310,0 18 5891637 5891637 C A exonic TMEM200C synonymous SNV TMEM200C:NM_001080209:exon3:c.G426T:p.P142P 0.34 0.43 0.34 0.3 0.36 0.24 0.3540 0.4393 0.3237 0.3321 0.3057 0.3779 0.3445 0.2603 0.4 0.43 0.38 0.38 . rs28656885 COSM4131042 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3516 0.4396 0.3273 0.3613 0.3351 0.3075 0.3821 0.3668 0.2594 0.3828 0.4412 0.3309 0.3444 0.3443 0.3116 0.3742 0.3701 hom 2164.79 65 18 5891637 . C A 2164.79 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9867;MQ=60.00;MQ0=0;QD=33.30;VQSLOD=8.9139;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2198,175,0 18 5956238 5956238 C T exonic L3MBTL4 nonsynonymous SNV L3MBTL4:NM_001330559:exon19:c.G1826A:p.G609D,L3MBTL4:NM_173464:exon20:c.G1853A:p.G618D 0.38 0.29 0.27 0.47 0.4 0.48 0.3812 0.3081 0.2849 0.4929 0.4440 0.3727 0.3697 0.4443 0.36 0.29 0.39 0.48 0.39 rs3737353 COSM1389481 1(pancreas) . . . . . . . . . . . 0.409 0.102 T 0.053 0.211 B 0.019 0.229 B 0.097 0.200 N 1 0.090 P 1.87 0.498 L 2.34 0.164 T -0.24 0.108 N 0.059 0.064 -0.922 0.453 T 0.000 0.000 T . . . 1.820 0.280 15.10 0.511 0.044 0.058 0.116 N c -1.148 -1.127 0.003 0.097 0.615 0.372 0 2.78 0.316 0.500 0.221 -0.353 0.069 0.017 0.192 0.008 0.104 7.854 0.285 . ENSG00000265487.1 Testis 0.3837 0.3064 0.2993 0.3176 0.5045 0.4404 0.3822 0.3561 0.4372 0.3847 0.3109 0.3186 0.3444 0.5105 0.4671 0.3977 0.4104 hom 6697.74 222 18 5956238 . C T 6697.74 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.716;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0225;MQ=59.69;MQ0=0;MQRankSum=1.716;QD=30.17;ReadPosRankSum=1.102;VQSLOD=6.8063;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,220:222:99:6696,557,0 18 6912143 6912143 A C exonic ARHGAP28 nonsynonymous SNV ARHGAP28:NM_001010000:exon17:c.A1703C:p.Q568P 0.73 0.77 0.72 0.63 0.87 0.64 0.7949 0.7857 0.7009 0.6784 0.8288 0.8530 0.7995 0.6787 0.84 0.79 0.86 0.71 0.63 rs1056408 COSM5617980 1(breast) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -1.005 0.012 N 3.37 0.070 T 3.28 0.001 N 0.039 0.095 -0.999 0.301 T 0.000 0.000 T . . . -1.597 0.015 0.002 0.321 0.018 0.014 0.047 N c -1.299 -1.139 0.001 0.079 0.638 0.428 0 4.06 0.464 1.419 0.342 -0.334 0.073 0.801 0.295 0.003 0.074 8.883 0.344 Rho GTPase activation protein|Rho GTPase-activating protein domain . . 0.7889 0.7850 0.6962 0.8062 0.6666 0.8336 0.8551 0.8054 0.6764 0.8192 0.7880 0.7184 0.7881 0.6520 0.8437 0.8564 0.8135 hom 754.66 22 18 6912143 . A C 754.66 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=34.30;VQSLOD=10.1496;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:60.19:788,60,0 18 6980523 6980523 T C exonic LAMA1 nonsynonymous SNV LAMA1:NM_005559:exon42:c.A6004G:p.K2002E 0.69 0.52 0.75 0.82 0.69 0.75 0.7278 0.5626 0.8448 0.8308 0.7464 0.7182 0.7252 0.7272 0.66 0.55 0.71 0.75 0.69 rs607230 . . . . . . . . . . . . . 0.431 0.095 T 0.0 0.026 B 0.0 0.013 B 0.075 0.212 N 1.000 0.090 P -1.7 0.004 N 2.23 0.181 T 0.97 0.015 N 0.039 0.019 -0.994 0.317 T 0.000 0.000 T . . . 2.214 0.327 17.60 0.966 0.298 0.195 0.205 N c -0.992 -0.743 0.383 0.200 0.707 0.730 0 3.34 0.372 1.499 0.351 0.016 0.142 0.990 0.367 0.841 0.351 5.88 0.180 . . . 0.7354 0.5605 0.8340 0.7312 0.8259 0.7480 0.7154 0.7371 0.7288 0.6907 0.5683 0.8091 0.7020 0.8261 0.7423 0.7259 0.7251 hom 2533.02 88 18 6980523 . T C 2533.02 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5226;MQ=59.74;MQ0=0;QD=28.78;VQSLOD=8.4784;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:88:99:2566,193,0 18 6985270 6985270 C T exonic LAMA1 nonsynonymous SNV LAMA1:NM_005559:exon39:c.G5626A:p.A1876T 0.14 0.0068 0.14 0.19 0.23 0.16 0.1941 0.0436 0.0954 0.1827 0.2014 0.2469 0.1938 0.1479 0.19 0.051 0.26 0.17 0.27 rs11664063 COSM148380 1(stomach);3(large_intestine) . . . . . . . . . . . 0.094 0.313 T 0.152 0.264 B 0.013 0.154 B 0.057 0.225 N 1.000 0.186 P 1.435 0.361 L 2.25 0.178 T -2.38 0.524 N 0.021 0.005 -0.935 0.434 T 0.000 0.000 T . . . 1.127 0.203 11.36 0.922 0.210 0.076 0.135 N c -1.045 -1.120 0.000 0.069 0.707 0.730 0 -0.587 0.111 -0.048 0.118 -0.402 0.062 0.003 0.159 0.003 0.074 6.143 0.194 . . . 0.1949 0.0407 0.1048 0.2649 0.1851 0.2035 0.2484 0.2219 0.1480 0.1787 0.0461 0.1301 0.2285 0.1959 0.2046 0.2470 0.2200 hom 7758.93 247 18 6985270 . C T 7758.93 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=59.50;MQ0=0;QD=31.41;VQSLOD=9.0890;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:7758,629,0 18 6986259 6986259 G A exonic LAMA1 synonymous SNV LAMA1:NM_005559:exon37:c.C5256T:p.H1752H 0.14 0.0068 0.15 0.19 0.23 0.16 0.1975 0.0446 0.0977 0.1825 0.2030 0.2521 0.2004 0.1487 0.19 0.053 0.26 0.17 0.27 rs62081531 COSM148381 1(stomach);1(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1984 0.0415 0.1081 0.2680 0.1851 0.2047 0.2540 0.2258 0.1487 0.1839 0.0473 0.1396 0.2384 0.1952 0.2068 0.2557 0.2240 hom 5107.47 154 18 6986259 . G A 5107.47 Mask AC=2;AF=1.00;AN=2;DP=154;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.42;MQ0=0;QD=33.17;VQSLOD=9.7341;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:5107,415,0 18 6993673 6993673 T C exonic LAMA1 nonsynonymous SNV LAMA1:NM_005559:exon35:c.A4975G:p.I1659V 0.11 0.037 0.12 0.09 0.2 0.15 0.1665 0.0665 0.0894 0.0874 0.1585 0.2148 0.1608 0.1334 0.17 0.072 0.22 0.13 0.25 rs62081533 COSM3756201 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.26 0.165 T 0.0 0.026 B 0.003 0.080 B 0.915 0.074 N 1 0.090 P 0 0.065 N 3.01 0.091 T 0.3 0.041 N 0.053 0.035 -0.911 0.468 T 0.000 0.000 T . . . -1.225 0.024 0.006 0.293 0.015 0.020 0.060 N c -1.358 -1.368 0.998 0.363 0.732 0.924 0 -3.46 0.044 -0.032 0.121 -0.909 0.026 0.000 0.063 0.000 0.016 9.401 0.374 Laminin alpha\x2c domain I . . 0.1659 0.0627 0.0967 0.2290 0.0903 0.1601 0.2159 0.1891 0.1336 0.1481 0.0644 0.1112 0.1921 0.0916 0.1634 0.1994 0.1670 hom 6383.33 224 18 6993673 . T C 6383.33 Mask AC=2;AF=1.00;AN=2;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7481;MQ=59.36;MQ0=0;QD=28.50;VQSLOD=7.3677;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,224:224:99:6382,499,0 18 6997818 6997818 A C exonic LAMA1 nonsynonymous SNV LAMA1:NM_005559:exon33:c.T4729G:p.S1577A 0.15 0.15 0.18 0.058 0.27 0.1 0.2025 0.1578 0.1221 0.0511 0.2548 0.2630 0.1927 0.1013 0.23 0.15 0.27 0.16 0.31 rs12961939 COSM3756202 2(large_intestine) . . . . . . . . . . . 0.019 0.501 D 0.364 0.322 B 0.161 0.331 B 0.003 0.354 N 1 0.090 P 2.47 0.719 M 2.72 0.120 T -2.31 0.513 N 0.17 0.206 -0.943 0.422 T 0.000 0.000 T . . . 0.754 0.166 9.175 0.989 0.484 0.885 0.481 D c -0.131 -0.095 0.666 0.223 0.707 0.730 0 4.18 0.483 3.433 0.523 1.199 0.960 0.957 0.332 0.139 0.202 11.787 0.511 Laminin alpha\x2c domain I . . 0.2041 0.1529 0.1327 0.3202 0.0507 0.2592 0.2617 0.2392 0.1014 0.2131 0.1513 0.1492 0.3212 0.0580 0.2448 0.2581 0.2378 hom 7136.38 226 18 6997818 . A C 7136.38 Mask AC=2;AF=1.00;AN=2;DP=226;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.90;MQ0=0;QD=31.58;VQSLOD=9.3459;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7136,542,0 18 6999628 6999628 T C exonic LAMA1 synonymous SNV LAMA1:NM_005559:exon32:c.A4479G:p.S1493S 0.47 0.78 0.31 0.27 0.42 0.4 0.4507 0.7149 0.2547 0.3193 0.4722 0.4581 0.4625 0.4219 0.52 0.69 0.44 0.55 0.42 rs625106 COSM3756203 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4067 0.7148 0.2242 0.5105 0.2829 0.4355 0.4257 0.4140 0.4022 0.4804 0.7010 0.2614 0.5464 0.3094 0.4187 0.3999 0.4131 hom 1092.42 38 18 6999628 . T C 1092.42 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;QD=28.75;VQSLOD=8.4950;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1125,99,0 18 7008591 7008591 T C exonic LAMA1 nonsynonymous SNV LAMA1:NM_005559:exon28:c.A4018G:p.M1340V 0.19 0.23 0.19 0.0099 0.3 0.19 0.2384 0.2391 0.1366 0.0046 0.3148 0.2920 0.2720 0.1830 0.28 0.24 0.3 0.24 0.32 rs662471 . . . . . . . . . . . . . 0.008 0.586 D 0.549 0.362 P 0.393 0.425 B 0.001 0.407 N 0.995 0.234 P 3.56 0.935 H 1.25 0.365 T -2.59 0.558 D 0.053 0.035 -1.097 0.044 T 0.000 0.000 T . . . 0.783 0.169 9.358 0.863 0.159 0.102 0.156 N c -0.796 -1.039 0.141 0.173 0.707 0.730 0 -7.83 0.011 0.023 0.133 -0.284 0.084 0.014 0.188 0.688 0.307 5.113 0.141 Laminin IV . . 0.2347 0.2342 0.1383 0.2749 0.0057 0.3147 0.2923 0.2690 0.1827 0.2617 0.2256 0.1711 0.2980 0.0092 0.3193 0.3003 0.2724 hom 4207.49 144 18 7008591 . T C 4207.49 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.003;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5475;MQ=58.96;MQ0=0;MQRankSum=2.413;QD=29.22;ReadPosRankSum=-0.529;VQSLOD=7.6147;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:4,140:144:99:4118,229,0 18 7011413 7011413 G A exonic LAMA1 synonymous SNV LAMA1:NM_005559:exon25:c.C3573T:p.T1191T 0.36 0.7 0.34 0.12 0.28 0.26 0.3366 0.6596 0.3150 0.1252 0.3580 0.3229 0.3631 0.2833 0.41 0.63 0.3 0.43 0.29 rs619106 COSM148383 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2943 0.6453 0.2663 0.3347 0.1082 0.3066 0.2878 0.3013 0.2611 0.3719 0.6401 0.2780 0.3691 0.1194 0.2855 0.2740 0.2939 hom 571.42 21 18 7011413 . G A 571.42 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.180;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=1.737;QD=27.21;ReadPosRankSum=-0.300;VQSLOD=7.6887;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,19:21:9.41:604,9,0 18 7012123 7012123 A G exonic LAMA1 synonymous SNV LAMA1:NM_005559:exon24:c.T3378C:p.G1126G 0.42 0.85 0.38 0.054 0.36 0.3 0.3774 0.7764 0.3036 0.0535 0.4036 0.3837 0.3861 0.3158 0.51 0.76 0.39 0.52 0.36 rs9946794 COSM438362 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3653 0.7777 0.3045 0.4108 0.0515 0.4024 0.3788 0.3821 0.3128 0.4748 0.7678 0.3225 0.4768 0.0536 0.3972 0.3819 0.3921 hom 1040.29 31 18 7012123 . A G 1040.29 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=33.56;VQSLOD=8.9846;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:84.26:1073,84,0 18 7017322 7017322 A G exonic LAMA1 synonymous SNV LAMA1:NM_005559:exon20:c.T2763C:p.C921C 0.55 0.92 0.41 0.23 0.54 0.49 0.5194 0.8506 0.3143 0.2337 0.5715 0.5338 0.6112 0.5201 0.64 0.84 0.54 0.63 0.56 rs539713 COSM4131076 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5051 0.8551 0.3247 0.6209 0.2392 0.5757 0.5243 0.5276 0.5157 0.6080 0.8460 0.3513 0.6033 0.2559 0.5767 0.5328 0.5489 het 627.24 74 18 7017322 . A G 627.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.663;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.26;MQ0=0;MQRankSum=-0.652;QD=8.48;ReadPosRankSum=-0.150;VQSLOD=6.3666;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,28:74:99:657,0,1193 18 7023371 7023371 A G exonic LAMA1 synonymous SNV LAMA1:NM_005559:exon19:c.T2493C:p.C831C 0.44 0.85 0.39 0.14 0.38 0.27 0.3801 0.7703 0.2839 0.1558 0.4224 0.3833 0.4082 0.2880 0.51 0.75 0.38 0.53 0.43 rs684634 COSM1179774 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3702 0.7771 0.2914 0.4380 0.1592 0.4295 0.3765 0.3709 0.2848 0.4744 0.7674 0.2816 0.4371 0.1765 0.4361 0.3637 0.3724 het 923.27 104 18 7023371 . A G 923.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.879;DP=104;Dels=0.00;FS=10.282;HRun=0;HaplotypeScore=1.9974;MQ=59.19;MQ0=0;MQRankSum=-0.462;QD=8.88;ReadPosRankSum=1.452;VQSLOD=3.9244;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,41:104:99:953,0,1541 18 7033037 7033037 G A exonic LAMA1 synonymous SNV LAMA1:NM_005559:exon15:c.C2109T:p.A703A 0.41 0.71 0.39 0.13 0.4 0.3 0.4057 0.6520 0.2999 0.1611 0.4686 0.4224 0.4478 0.3465 0.48 0.64 0.4 0.52 0.42 rs621993 COSM5009615 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3787 0.6491 0.2937 0.4677 0.1488 0.4547 0.3980 0.3899 0.3141 0.4571 0.6504 0.2955 0.4735 0.1625 0.4622 0.3878 0.3982 het 441.96 39 18 7033037 . G A 441.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.552;DP=39;Dels=0.00;FS=1.210;HRun=0;HaplotypeScore=1.8664;MQ=59.04;MQ0=0;MQRankSum=-1.301;QD=11.33;ReadPosRankSum=1.242;VQSLOD=5.9176;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,18:39:99:472,0,529 18 8069868 8069868 C T exonic PTPRM synonymous SNV PTPRM:NM_001105244:exon8:c.C1317T:p.N439N,PTPRM:NM_002845:exon8:c.C1317T:p.N439N 0.47 0.53 0.52 0.29 0.52 0.5 0.5032 0.5594 0.4738 0.2699 0.5371 0.5273 0.4922 0.4993 0.53 0.57 0.52 0.46 0.42 rs2230601 COSM4000475;COSM4000474 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4987 0.5607 0.4743 0.4374 0.2689 0.5335 0.5326 0.4973 0.4947 0.5284 0.5613 0.4893 0.4503 0.2643 0.5158 0.5434 0.5432 het 910.14 67 18 8069868 . C T 910.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.497;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;MQRankSum=1.379;QD=13.58;ReadPosRankSum=0.725;VQSLOD=6.3318;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,34:67:99:940,0,977 18 8387195 8387195 G A exonic PTPRM synonymous SNV PTPRM:NM_002845:exon29:c.G4131A:p.E1377E,PTPRM:NM_001105244:exon31:c.G4170A:p.E1390E 0.63 0.46 0.79 0.74 0.68 0.61 0.6840 0.5027 0.8317 0.7319 0.6581 0.6904 0.7075 0.6529 0.63 0.52 0.69 0.65 0.67 rs593978 COSM4000476;COSM4000477 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6960 0.4990 0.8227 0.7485 0.7332 0.6634 0.6909 0.7033 0.6589 0.6253 0.5016 0.7835 0.74 0.7290 0.6573 0.6644 0.6718 hom 3029.93 91 18 8387195 . G A 3029.93 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.04;MQ0=0;QD=33.30;VQSLOD=8.8793;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3063,253,0 18 8387219 8387219 G C exonic PTPRM synonymous SNV PTPRM:NM_002845:exon29:c.G4155C:p.T1385T,PTPRM:NM_001105244:exon31:c.G4194C:p.T1398T 0.74 0.71 0.82 0.79 0.73 0.67 0.7416 0.7190 0.8528 0.8010 0.7191 0.7311 0.7600 0.6969 0.73 0.72 0.73 0.76 0.68 rs593950 COSM5427909;COSM5427908 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7502 0.7172 0.8475 0.7751 0.8000 0.7232 0.7337 0.7509 0.7034 0.7213 0.7107 0.8158 0.7767 0.8020 0.7288 0.7098 0.7352 hom 1492.40 49 18 8387219 . G C 1492.40 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6316;MQ=59.53;MQ0=0;QD=30.46;VQSLOD=8.1257;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1525,141,0 18 8784370 8784370 A G exonic MTCL1 synonymous SNV MTCL1:NM_015210:exon6:c.A1260G:p.E420E 0.92 0.79 0.95 0.96 0.97 0.95 0.9574 0.8127 0.9733 0.9564 0.9917 0.9732 0.9556 0.9647 0.94 0.87 0.97 0.89 0.83 rs918272 COSM4131115 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9588 0.8146 0.9702 0.9620 0.9546 0.9918 0.9717 0.9653 0.9655 0.9295 0.8156 0.9487 0.9669 0.9622 0.9905 0.9736 0.9672 hom 2191.60 68 18 8784370 . A G 2191.60 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3391;MQ=59.11;MQ0=0;QD=32.23;VQSLOD=9.7863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2225,187,0 18 8784612 8784612 A G exonic MTCL1 nonsynonymous SNV MTCL1:NM_015210:exon6:c.A1502G:p.Q501R 0.3 0.13 0.47 0.22 0.36 0.41 0.3701 0.1744 0.5797 0.2464 0.4028 0.3665 0.3408 0.4125 0.31 0.18 0.37 0.26 0.25 rs1965665 COSM3756231 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.716 0.041 T 0.0 0.026 B 0.0 0.040 B 0.191 0.033 N 1 0.090 P 0 0.065 N 1.57 0.293 T -0.02 0.073 N 0.079 0.072 -1.036 0.185 T 0.000 0.000 T . . . -4.976 0.000 0.001 0.158 0.004 0.042 0.096 N c -2.776 -2.827 1.000 0.747 0.707 0.730 0 -5.97 0.020 -1.781 0.019 -5.066 0.000 0.000 0.063 0.000 0.016 3.158 0.061 . . . 0.3757 0.1654 0.5538 0.3029 0.2388 0.4072 0.3637 0.3890 0.4034 0.3140 0.1742 0.4976 0.2748 0.2343 0.3941 0.3736 0.3507 hom 3296.99 101 18 8784612 . A G 3296.99 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=32.64;VQSLOD=8.5764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3296,277,0 18 8825192 8825192 A G exonic MTCL1 synonymous SNV MTCL1:NM_015210:exon15:c.A3684G:p.G1228G 0.59 0.76 0.64 0.4 0.63 0.46 0.5897 0.7427 0.6127 0.3786 0.6483 0.5987 0.6079 0.5170 0.64 0.72 0.59 0.62 0.6 rs581894 COSM438417;COSM3756232 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5840 0.7422 0.6178 0.5511 0.3791 0.6426 0.5963 0.5845 0.5021 0.6403 0.7365 0.6539 0.5662 0.3800 0.6436 0.6136 0.6180 het 528.55 54 18 8825192 . A G 528.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.800;DP=54;Dels=0.00;FS=2.514;HRun=3;HaplotypeScore=0.0000;MQ=58.88;MQ0=0;MQRankSum=0.994;QD=9.79;ReadPosRankSum=1.639;VQSLOD=4.9973;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,20:54:99:559,0,898 18 8825946 8825946 G A exonic MTCL1 nonsynonymous SNV MTCL1:NM_015210:exon15:c.G4438A:p.G1480S 0.0034 . 0.0072 . 0.012 . 0.0158 0.0030 0.0060 0 0.0148 0.0248 0.0060 0.0010 0.014 0.0034 0.02 . 0.016 rs72942342 . . . . . . . . . . . . . 0.018 0.506 D 0.052 0.210 B 0.041 0.226 B 0.162 0.176 N 0.979 0.252 N 2.19 0.618 M 2.08 0.398 T -4.0 0.740 D 0.127 0.163 -0.988 0.332 T 0.066 0.272 T . . . 0.584 0.150 8.045 0.947 0.247 0.868 0.459 D c -0.389 -0.309 1.000 0.747 0.707 0.730 0 3.53 0.394 3.740 0.546 0.128 0.215 1.000 0.715 0.574 0.284 10.548 0.441 . . . 0.0144 0.0032 0.0065 0.0135 0 0.0143 0.0243 0.0166 0.0010 0.0139 0.0040 0.0072 0.0166 0 0.0152 0.0213 0.0112 het 728.75 57 18 8825946 . G A 728.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.525;DP=57;Dels=0.00;FS=1.077;HRun=0;HaplotypeScore=0.7887;MQ=59.19;MQ0=0;MQRankSum=-1.345;QD=12.79;ReadPosRankSum=0.377;VQSLOD=5.4269;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,29:57:99:759,0,670 18 8826083 8826083 G C exonic MTCL1 synonymous SNV MTCL1:NM_015210:exon15:c.G4575C:p.T1525T 0.89 0.79 0.88 0.89 0.98 0.96 0.9439 0.8246 0.8656 0.8962 0.9742 0.9735 0.9519 0.9644 0.92 0.82 0.97 0.87 0.73 rs3744977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9426 0.8175 0.8727 0.9563 0.8966 0.9712 0.9749 0.9465 0.9636 0.9228 0.8198 0.8807 0.9371 0.8946 0.9679 0.9757 0.9490 hom 1002.19 29 18 8826083 . G C 1002.19 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.56;VQSLOD=14.4659;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:81.26:1035,81,0 18 9117867 9117867 T C exonic NDUFV2 nonsynonymous SNV NDUFV2:NM_021074:exon2:c.T86C:p.V29A 0.78 0.74 0.8 0.71 0.83 0.84 0.8001 0.7593 0.7611 0.7098 0.7420 0.8157 0.7963 0.8606 0.8 0.76 0.82 0.77 0.82 rs906807 COSM3773839 2(haematopoietic_and_lymphoid_tissue);1(kidney);1(large_intestine) Uncertain significance|other|Benign Parkinson_disease\x2c_mitochondrial|not_specified|Mitochondrial_complex_I_deficiency RCV000009621.2|RCV000117718.3|RCV000312272.1 MedGen:OMIM|MedGen|MedGen:OMIM C1838867:556500|CN169374|C1838979:252010 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.354 N 1.000 0.090 P -1.63 0.004 N 1.02 0.429 T 1.21 0.011 N 0.042 0.022 -0.966 0.380 T 0.000 0.000 T . . . 0.840 0.174 9.708 0.821 0.135 0.037 0.089 N c -0.908 -0.635 1.000 0.747 0.731 0.878 0 4.67 0.579 1.585 0.360 0.040 0.155 1.000 0.715 0.747 0.321 11.855 0.515 . ENSG00000265257.1|ENSG00000178127.8 Muscle_Skeletal|Muscle_Skeletal 0.7980 0.7551 0.7493 0.8953 0.7120 0.7492 0.8155 0.8101 0.8591 0.7844 0.7579 0.7709 0.8974 0.7494 0.7349 0.8134 0.7888 hom 2411.20 91 18 9117867 . T C 2411.20 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.25;MQ0=0;QD=26.50;VQSLOD=6.9408;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2444,175,0 18 9119489 9119489 A T exonic NDUFV2 synonymous SNV NDUFV2:NM_021074:exon4:c.A201T:p.V67V 0.075 0.15 0.063 0.002 0.091 0.036 0.0850 0.1575 0.0449 0.0001 0.0363 0.1029 0.0878 0.0605 0.13 0.16 0.11 0.13 0.074 rs41274300 COSM4131120 1(thyroid) Likely benign|Likely benign not_specified|Mitochondrial_complex_I_deficiency RCV000117717.2|RCV000366995.1 MedGen|MedGen:OMIM CN169374|C1838979:252010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0828 0.1562 0.0501 0.1340 5.802e-05 0.0376 0.1060 0.0842 0.0603 0.1037 0.1603 0.0635 0.1689 0.0006 0.0424 0.0999 0.0602 het 558.28 41 18 9119489 . A T 558.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.614;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53.36;MQ0=0;MQRankSum=-0.379;QD=13.62;ReadPosRankSum=-1.059;VQSLOD=6.2264;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,22:41:99:588,0,474 18 9255982 9255982 A G exonic ANKRD12 nonsynonymous SNV ANKRD12:NM_001083625:exon8:c.A2648G:p.K883R,ANKRD12:NM_001204056:exon8:c.A2648G:p.K883R,ANKRD12:NM_015208:exon9:c.A2717G:p.K906R 0.61 0.38 0.71 0.66 0.66 0.76 0.6565 0.4475 0.7488 0.6840 0.6362 0.6444 0.6478 0.7490 0.55 0.41 0.62 0.53 0.42 rs4798791 COSM4000482 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.085 0.327 T 0.859 0.453 P 0.391 0.424 B 0.000 0.843 D 0.000 0.548 P 2.225 0.632 M 1.22 0.370 T -1.44 0.354 N 0.04 0.130 -0.999 0.301 T 0.000 0.000 T . . . 3.341 0.460 22.9 0.998 0.855 0.955 0.645 D c 0.330 0.431 1.000 0.413 0.732 0.924 0 5.55 0.832 5.857 0.691 1.088 0.866 1.000 0.715 0.998 0.697 15.691 0.771 . ENSG00000266053.2|ENSG00000101745.11 Testis|Testis 0.6416 0.4074 0.7256 0.6768 0.6828 0.6278 0.6213 0.6549 0.7463 0.5665 0.4068 0.6926 0.6376 0.7145 0.6004 0.6227 0.6469 het 95.12 15 18 9255982 . A G 95.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=15;Dels=0.00;FS=2.363;HRun=1;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;MQRankSum=0.184;QD=6.34;ReadPosRankSum=-0.184;VQSLOD=5.1023;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:15:99:125,0,284 18 9258551 9258551 T C exonic ANKRD12 synonymous SNV ANKRD12:NM_001083625:exon8:c.T5217C:p.S1739S,ANKRD12:NM_001204056:exon8:c.T5217C:p.S1739S,ANKRD12:NM_015208:exon9:c.T5286C:p.S1762S 0.0006 . . . 0.003 . 0.0011 0.0004 0 0 0.0009 0.0018 0 6.072e-05 0.0017 0.0009 0.0021 . . rs145087479 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0011 0.0002 0.0002 0 0 0.0011 0.0020 0.0005 0.0001 0.0008 0.0005 0 0 0 0.0006 0.0011 0.0010 het 389.54 43 18 9258551 . T C 389.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.652;DP=43;Dels=0.00;FS=2.945;HRun=0;HaplotypeScore=1.9148;MQ=58.92;MQ0=0;MQRankSum=0.874;QD=9.06;ReadPosRankSum=1.686;VQSLOD=4.1302;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,18:43:99:420,0,701 18 9886890 9886890 A G exonic TXNDC2 synonymous SNV TXNDC2:NM_001098529:exon2:c.A414G:p.S138S,TXNDC2:NM_032243:exon2:c.A213G:p.S71S 0.19 0.28 0.16 0.001 0.29 0.19 0.2342 0.2651 0.1215 0.0008 0.2449 0.2821 0.2401 0.2179 0.27 0.26 0.28 0.16 0.25 rs601874 COSM3756234;COSM3756235 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2271 0.2684 0.1307 0.3676 0.0007 0.2454 0.2716 0.2505 0.2151 0.2390 0.2662 0.1511 0.3742 0.0018 0.2412 0.2524 0.2195 het 3143.50 250 18 9886890 . A G 3143.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.921;DP=250;DS;Dels=0.00;FS=1.569;HRun=1;HaplotypeScore=12.1527;MQ=58.60;MQ0=0;MQRankSum=0.791;QD=12.57;ReadPosRankSum=-0.489;VQSLOD=3.6138;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,126:250:99:3173,0,3408 18 9887497 9887497 G A exonic TXNDC2 nonsynonymous SNV TXNDC2:NM_001098529:exon2:c.G1021A:p.E341K,TXNDC2:NM_032243:exon2:c.G820A:p.E274K 0.8 0.69 0.83 1. 0.71 0.81 0.7640 0.7111 0.8757 0.9988 0.7556 0.7190 0.7561 0.7817 0.72 0.72 0.72 0.65 0.71 rs11081510 . . . . . . . . . . . . . 0.222 0.188 T 0.028 0.184 B 0.021 0.181 B . . . 1 0.090 P 0.515 0.136 N 2.34 0.164 T -1.05 0.275 N 0.035 0.015 -1.010 0.271 T 0.000 0.000 T . . . -0.021 0.092 2.391 0.696 0.087 0.021 0.062 N c -1.774 -1.876 1.000 0.489 0.554 0.246 0 -3.77 0.040 -3.629 0.005 -1.262 0.014 0.000 0.063 0.000 0.016 13.314 0.597 . . . 0.7648 0.6946 0.8522 0.6267 0.9888 0.7555 0.7242 0.7406 0.7785 0.7148 0.6689 0.8076 0.6074 0.9753 0.7194 0.7056 0.7506 het 4454.30 250 18 9887497 . G A 4454.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.295;DP=250;DS;Dels=0.00;FS=0.467;HRun=1;HaplotypeScore=4.6258;MQ=59.02;MQ0=0;MQRankSum=1.583;QD=17.82;ReadPosRankSum=-0.167;VQSLOD=4.2582;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,128:250:99:3743,0,3312 18 9888069 9888069 A G exonic TXNDC2 synonymous SNV TXNDC2:NM_001098529:exon2:c.A1593G:p.E531E,TXNDC2:NM_032243:exon2:c.A1392G:p.E464E 0.55 0.47 0.58 0.82 0.48 0.46 0.5268 0.4886 0.6090 0.8309 0.5344 0.5014 0.4989 0.4347 0.49 0.49 0.49 0.52 0.5 rs2240905 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5258 0.4775 0.5994 0.3784 0.8322 0.5338 0.5017 0.5086 0.4298 0.5245 0.4676 0.6005 0.3675 0.8307 0.5295 0.5206 0.5501 het 808.55 72 18 9888069 . A G 808.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.239;DP=72;Dels=0.00;FS=0.924;HRun=1;HaplotypeScore=2.8302;MQ=58.75;MQ0=0;MQRankSum=-1.091;QD=11.23;ReadPosRankSum=0.794;VQSLOD=5.8390;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,30:72:99:839,0,1163 18 10487918 10487918 C T exonic APCDD1 synonymous SNV APCDD1:NM_153000:exon5:c.C1428T:p.L476L 0.41 0.2 0.48 0.62 0.43 0.4 0.4297 0.2381 0.5073 0.6395 0.3926 0.4334 0.4157 0.3854 0.35 0.24 0.41 0.3 0.48 rs3185480 COSM4000365 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4306 0.2326 0.4932 0.4051 0.6306 0.4090 0.4277 0.4291 0.3825 0.3824 0.2404 0.4833 0.33 0.6536 0.4101 0.4246 0.3880 het 1386.62 108 18 10487918 . C T 1386.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.811;DP=108;Dels=0.00;FS=2.505;HRun=1;HaplotypeScore=0.9665;MQ=59.79;MQ0=0;MQRankSum=-1.346;QD=12.84;ReadPosRankSum=0.940;VQSLOD=6.1603;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,50:108:99:1417,0,1499 18 12308793 12308793 G C exonic TUBB6 synonymous SNV TUBB6:NM_001303525:exon2:c.G165C:p.S55S,TUBB6:NM_001303526:exon2:c.G165C:p.S55S,TUBB6:NM_032525:exon2:c.G165C:p.S55S,TUBB6:NM_001303524:exon3:c.G165C:p.S55S 0.13 0.084 0.18 0.15 0.13 0.13 0.1243 0.0824 0.1740 0.1641 0.0885 0.1213 0.1199 0.1215 0.1 0.081 0.11 0.17 0.09 rs11267036 COSM3756071 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1256 0.0802 0.1736 0.1674 0.1591 0.0890 0.1163 0.1397 0.1209 0.1030 0.0834 0.1830 0.16 0.1414 0.0874 0.1075 0.1133 het 1230.28 95 18 12308793 . G C 1230.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.004;DP=95;Dels=0.00;FS=1.930;HRun=1;HaplotypeScore=5.2872;MQ=58.72;MQ0=0;MQRankSum=0.219;QD=12.95;ReadPosRankSum=-0.068;VQSLOD=5.1786;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,48:95:99:1260,0,1211 18 12348285 12348285 T C exonic AFG3L2 synonymous SNV AFG3L2:NM_006796:exon13:c.A1650G:p.E550E 0.71 0.74 0.59 0.62 0.77 0.79 0.7492 0.7682 0.5525 0.6084 0.8357 0.7812 0.7632 0.7842 0.78 0.77 0.78 0.65 0.84 rs11553521 COSM148398 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) other|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000116249.3|RCV000329004.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7419 0.7639 0.5662 0.7511 0.6080 0.8355 0.7810 0.7466 0.7839 0.7758 0.7704 0.5990 0.7450 0.6321 0.8365 0.7904 0.7821 het 1046.37 86 18 12348285 . T C 1046.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.071;DP=86;Dels=0.00;FS=1.044;HRun=0;HaplotypeScore=5.3521;MQ=59.46;MQ0=0;MQRankSum=1.274;QD=12.17;ReadPosRankSum=0.454;VQSLOD=5.0443;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:44,42:86:99:1076,0,1161 18 12351342 12351342 C T exonic AFG3L2 synonymous SNV AFG3L2:NM_006796:exon11:c.G1389A:p.L463L 0.62 0.44 0.57 0.61 0.76 0.78 0.7205 0.4900 0.5411 0.5995 0.8098 0.7789 0.75 0.7815 0.69 0.5 0.78 0.54 0.84 rs11080572 COSM148399 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) other|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000116248.4|RCV000323296.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7185 0.4829 0.5543 0.7435 0.6012 0.8115 0.7795 0.7319 0.7814 0.6927 0.4989 0.5835 0.7333 0.6276 0.8097 0.7860 0.7592 het 759.65 74 18 12351342 . C T 759.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.004;DP=74;Dels=0.00;FS=3.226;HRun=0;HaplotypeScore=0.9469;MQ=59.44;MQ0=0;MQRankSum=0.917;QD=10.27;ReadPosRankSum=1.318;VQSLOD=5.5794;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,34:74:99:790,0,1141 18 12984144 12984144 C A exonic SEH1L nonsynonymous SNV SEH1L:NM_001013437:exon8:c.C1025A:p.T342N,SEH1L:NM_031216:exon8:c.C1025A:p.T342N 0.78 0.98 0.64 0.81 0.62 0.75 0.6769 0.9307 0.6090 0.7916 0.6068 0.6296 0.6806 0.7241 0.72 0.92 0.62 0.73 0.66 rs6505776 . . . . . . . . . . . . . 0.8 0.031 T 0.0 0.026 B 0.0 0.013 B 0.007 0.317 N 1.000 0.090 P -1.61 0.004 N -0.35 0.686 T 0.87 0.017 N 0.021 0.005 -0.992 0.321 T 0.000 0.000 T . . . 1.344 0.225 12.50 0.322 0.018 0.654 0.325 D c -0.926 -0.677 0.983 0.305 0.732 0.924 0 1.0 0.189 1.369 0.336 -0.123 0.113 1.000 0.715 0.998 0.697 7.079 0.242 . ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.6698 0.9371 0.6157 0.7629 0.7885 0.6127 0.6212 0.6631 0.7187 0.7045 0.9301 0.6328 0.7318 0.7811 0.5932 0.5972 0.6561 hom 2159.57 66 18 12984144 . C A 2159.57 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=32.72;VQSLOD=9.9003;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2193,175,0 18 13056333 13056333 C T exonic CEP192 synonymous SNV CEP192:NM_032142:exon19:c.C3744T:p.H1248H 0.25 0.2 0.39 0.18 0.34 0.18 0.3025 0.2222 0.3864 0.1880 0.3629 0.3413 0.2907 0.1745 0.29 0.22 0.33 0.21 0.37 rs2282541 COSM3756074;COSM3756073 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3097 0.2180 0.3973 0.3744 0.1889 0.3669 0.3343 0.3211 0.1746 0.2828 0.2246 0.3780 0.3675 0.1801 0.3500 0.3035 0.3065 het 1464.05 88 18 13056333 . C T 1464.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.669;DP=88;Dels=0.00;FS=5.496;HRun=0;HaplotypeScore=1.6643;MQ=59.48;MQ0=0;MQRankSum=0.530;QD=16.64;ReadPosRankSum=0.335;VQSLOD=5.6839;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,52:88:99:1494,0,953 18 13068132 13068132 T C exonic CEP192 nonsynonymous SNV CEP192:NM_032142:exon23:c.T4654C:p.S1552P 0.75 0.87 0.64 0.81 0.62 0.73 0.6623 0.8147 0.6003 0.7960 0.6036 0.6294 0.6718 0.6954 0.68 0.81 0.62 0.76 0.58 rs578208 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.993 0.237 P -2.785 0.000 N 1.86 0.243 T 4.25 0.000 N 0.098 0.100 -0.962 0.389 T 0.000 0.000 T . . . 1.073 0.197 11.07 0.810 0.130 0.064 0.123 N c -0.912 -0.613 1.000 0.747 0.566 0.321 0 5.37 0.769 4.346 0.589 0.016 0.142 1.000 0.715 0.264 0.230 14.643 0.682 . ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.6567 0.8198 0.6063 0.7400 0.7909 0.6110 0.6216 0.6569 0.6893 0.6756 0.8225 0.6169 0.7020 0.7818 0.5928 0.6024 0.6490 hom 4495.95 139 18 13068132 . T C 4495.95 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.6673;MQ=59.30;MQ0=0;QD=32.34;VQSLOD=8.6947;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4495,349,0 18 13069782 13069782 C T exonic CEP192 nonsynonymous SNV CEP192:NM_032142:exon27:c.C5101T:p.L1701F 0.77 0.95 0.65 0.81 0.62 0.73 0.6697 0.8889 0.6060 0.7956 0.6038 0.6304 0.6740 0.6955 0.71 0.88 0.62 0.78 0.66 rs6505780 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.625 0.000 N 0.96 0.429 T 2.64 0.002 N 0.053 0.040 -0.955 0.401 T 0.000 0.000 T . . . 1.115 0.201 11.30 0.135 0.003 0.044 0.099 N c -0.957 -0.664 1.000 0.431 0.707 0.730 0 5.47 0.803 2.423 0.441 0.154 0.240 0.979 0.349 0.590 0.287 10.456 0.435 PapD-like ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.6629 0.8953 0.6124 0.7427 0.7916 0.6108 0.6224 0.6629 0.6898 0.6962 0.8929 0.6256 0.7053 0.7823 0.5931 0.6032 0.6520 hom 3609.60 116 18 13069782 . C T 3609.60 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.10;MQ0=0;QD=31.12;VQSLOD=8.9001;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3609,280,0 18 13095609 13095609 T C exonic CEP192 nonsynonymous SNV CEP192:NM_032142:exon35:c.T6362C:p.L2121P 0.77 0.95 0.65 0.81 0.62 0.73 0.6697 0.8893 0.6064 0.7961 0.6039 0.6305 0.6740 0.6940 0.71 0.88 0.62 0.74 0.64 rs474337 . . . . . . . . . . . . . 0.355 0.121 T 0.0 0.102 B 0.0 0.080 B 0.013 0.289 N 0.983 0.249 P 0 0.065 N 1.59 0.288 T 0.88 0.017 N 0.03 0.058 -1.032 0.197 T 0.000 0.000 T . . . 0.207 0.114 4.748 0.400 0.028 0.108 0.160 N c -1.257 -1.163 0.325 0.194 0.707 0.730 0 3.43 0.382 1.603 0.362 -0.175 0.105 0.015 0.189 0.002 0.062 8.775 0.337 . ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.6629 0.8951 0.6124 0.7424 0.7908 0.6115 0.6227 0.6623 0.6882 0.6962 0.8930 0.6280 0.7053 0.7807 0.5934 0.6031 0.6513 hom 4202.05 140 18 13095609 . T C 4202.05 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7787;MQ=59.57;MQ0=0;QD=30.01;VQSLOD=8.6328;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4201,343,0 18 13116432 13116432 G T exonic CEP192 nonsynonymous SNV CEP192:NM_032142:exon43:c.G7346T:p.R2449L 0.78 0.98 0.64 0.81 0.61 0.73 0.6709 0.9305 0.6056 0.7950 0.6028 0.6265 0.6755 0.6948 0.72 0.92 0.62 0.76 0.64 rs1786263 COSM5001134;COSM5001135 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.000 0.537 N 1.000 0.186 P -2.595 0.000 N 3.54 0.048 T 1.74 0.006 N 0.142 0.166 -1.000 0.299 T 0.000 0.000 T . . . 2.984 0.419 22.2 0.413 0.029 0.037 0.089 N c -1.112 -0.828 0.486 0.208 0.732 0.924 0 4.76 0.600 0.555 0.230 0.117 0.209 1.000 0.715 0.024 0.140 4.897 0.130 . ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000085415.11|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14|ENSG00000101639.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.6621 0.9368 0.6095 0.7419 0.7904 0.6096 0.6175 0.6578 0.6858 0.7048 0.9304 0.6304 0.71 0.7792 0.5923 0.5989 0.6551 hom 3658.94 120 18 13116432 . G T 3658.94 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8585;MQ=59.62;MQ0=0;QD=30.49;VQSLOD=7.6485;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3659,280,0 18 13826007 13826007 G T exonic MC5R synonymous SNV MC5R:NM_005913:exon1:c.G243T:p.A81A 0.1 0.12 0.11 0.16 0.036 0.074 0.0631 0.1045 0.1126 0.1538 0.0422 0.0378 0.0522 0.0659 0.06 0.11 0.036 0.12 0.033 rs2236699 COSM4418337 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0625 0.1033 0.1000 0.0478 0.1519 0.0403 0.0373 0.0562 0.0646 0.0689 0.1023 0.0873 0.0563 0.1619 0.0387 0.0465 0.0583 het 1584.01 131 18 13826007 . G T 1584.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.061;DP=131;Dels=0.00;FS=3.330;HRun=0;HaplotypeScore=0.7887;MQ=59.51;MQ0=0;MQRankSum=0.253;QD=12.00;ReadPosRankSum=0.475;VQSLOD=6.4419;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,59:131:99:1614,0,1687 18 13826508 13826508 C T exonic MC5R synonymous SNV MC5R:NM_005913:exon1:c.C744T:p.T248T 0.26 0.31 0.36 0.34 0.17 0.15 0.2066 0.2983 0.2980 0.3535 0.1724 0.1763 0.1925 0.1442 0.21 0.29 0.18 0.24 0.13 rs2236701 COSM3756080 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2092 0.2971 0.2916 0.1769 0.3509 0.1753 0.1789 0.1999 0.1421 0.2263 0.2945 0.2768 0.1788 0.3476 0.1799 0.1849 0.1912 het 2981.37 211 18 13826508 . C T 2981.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.206;DP=211;DS;Dels=0.00;FS=2.501;HRun=0;HaplotypeScore=7.7439;MQ=59.71;MQ0=0;MQRankSum=-0.219;QD=14.13;ReadPosRankSum=0.924;VQSLOD=4.1984;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:109,102:211:99:3011,0,3011 18 14105923 14105923 T C exonic ZNF519 nonsynonymous SNV ZNF519:NM_145287:exon3:c.A616G:p.K206E 0.98 0.93 0.99 1. 1. 1. 0.9942 0.9347 0.9967 1 0.9998 0.9998 0.9956 1 0.98 0.94 1. 0.91 0.94 rs2159940 . . . . . . . . . . . . . . . . 0.063 0.219 B 0.012 0.149 B . . . 1 0.090 P -1.685 0.004 N 2.82 0.109 T . . . 0.027 0.009 -0.985 0.340 T 0.000 0.000 T . . . -2.062 0.007 0.001 0.101 0.001 0.002 0.010 N c -2.081 -2.073 0.044 0.146 0.554 0.283 0 -0.517 0.113 1.120 0.307 -0.427 0.059 0.624 0.277 0.001 0.043 5.240 0.147 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 . . 0.9954 0.9358 0.9967 1 1 0.9999 0.9998 0.9974 1 0.9837 0.9440 0.9964 1 1 1 0.9998 0.9908 hom 2996.03 95 18 14105923 . T C 2996.03 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=31.54;VQSLOD=9.6293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3029,229,0 18 19153494 19153494 C T exonic ESCO1 synonymous SNV ESCO1:NM_052911:exon4:c.G1311A:p.T437T 0.87 0.85 0.9 0.98 0.8 0.83 0.8321 0.8614 0.9230 0.9709 0.7829 0.7999 0.8403 0.8269 0.83 0.86 0.81 0.86 0.75 rs973730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8372 0.8634 0.9162 0.8147 0.9716 0.7827 0.8052 0.8205 0.8279 0.8338 0.8589 0.9019 0.8146 0.9760 0.7878 0.8116 0.8245 het 1186.92 96 18 19153494 . C T 1186.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9761;MQ=59.52;MQ0=0;MQRankSum=1.035;QD=12.36;ReadPosRankSum=1.278;VQSLOD=6.4118;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,45:96:99:1217,0,1352 18 19154143 19154143 G A exonic ESCO1 nonsynonymous SNV ESCO1:NM_052911:exon4:c.C662T:p.T221M 0.56 0.81 0.51 0.49 0.37 0.53 0.4461 0.7537 0.6030 0.4681 0.3809 0.3599 0.4117 0.5071 0.48 0.73 0.35 0.56 0.4 rs13381941 COSM3756093 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(lung);1(large_intestine) . . . . . . . . . . . 0.027 0.465 D 0.244 0.293 B 0.021 0.181 B 0.772 0.066 N 1 0.090 P 0 0.065 N 0.32 0.585 T -0.27 0.114 N 0.044 0.024 -0.974 0.363 T 0.000 0.000 T . . . -0.873 0.037 0.029 0.786 0.119 0.007 0.030 N c -1.327 -1.398 0.515 0.210 0.707 0.730 0 -4.85 0.029 -0.211 0.093 -0.750 0.034 0.000 0.063 0.015 0.124 0.664 0.008 . ENSG00000141446.6 Muscle_Skeletal 0.4438 0.7564 0.5930 0.3762 0.4685 0.3850 0.3532 0.4372 0.5050 0.4721 0.7342 0.5680 0.3477 0.4599 0.3792 0.3453 0.3906 het 2565.44 217 18 19154143 . G A 2565.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.472;DP=217;Dels=0.00;FS=1.873;HRun=0;HaplotypeScore=5.7605;MQ=59.40;MQ0=0;MQRankSum=0.071;QD=11.82;ReadPosRankSum=0.381;VQSLOD=5.2281;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,99:217:99:2595,0,3153 18 19995753 19995753 T C exonic CTAGE1 synonymous SNV CTAGE1:NM_172241:exon1:c.A2022G:p.P674P 0.69 0.26 0.86 0.79 0.93 0.78 0.8453 0.3568 0.8772 0.8275 0.9543 0.9168 0.8573 0.7898 0.73 0.39 0.91 0.54 . rs9946145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8559 0.3500 0.8778 0.8920 0.8287 0.9565 0.9159 0.8802 0.7918 0.7651 0.3785 0.8759 0.8808 0.8201 0.9487 0.9237 0.8890 hom 7348.17 233 18 19995753 . T C 7348.17 Mask AC=2;AF=1.00;AN=2;DP=233;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=59.30;MQ0=0;QD=31.54;VQSLOD=8.3691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,233:233:99:7347,590,0 18 20573556 20573556 G A exonic RBBP8 nonsynonymous SNV RBBP8:NM_002894:exon11:c.G1766A:p.R589H,RBBP8:NM_203291:exon11:c.G1766A:p.R589H,RBBP8:NM_203292:exon11:c.G1766A:p.R589H 0.0026 0.0023 0.0043 . 0.005 0.002 0.0071 0.0018 0.0020 0 0.0050 0.0115 0.0011 0.0008 0.0085 0.0018 0.012 . 0.033 rs111445733 . . Benign not_specified RCV000118133.2 MedGen CN169374 . . . . . . 0.153 0.250 T 0.001 0.102 B 0.001 0.040 B 0.597 0.056 N 1 0.090 N 0.69 0.170 N 1.53 0.307 T -0.29 0.154 N 0.033 0.018 -0.986 0.335 T 0.041 0.176 T . . . 0.195 0.113 4.628 0.901 0.188 0.050 0.106 N c -1.058 -1.095 0.999 0.388 0.707 0.730 0 -3.95 0.038 0.137 0.157 0.135 0.219 0.000 0.063 0.423 0.258 6.917 0.234 . . . 0.0071 0.0022 0.0020 0.0043 0 0.0051 0.0128 0.0051 0.0010 0.0078 0.0028 0.0036 0 0 0.0054 0.0127 0.0051 het 630.10 52 18 20573556 . G A 630.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.119;DP=52;Dels=0.00;FS=2.388;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.375;QD=12.12;ReadPosRankSum=0.833;VQSLOD=5.7752;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,26:52:99:660,0,736 18 21057228 21057228 C T exonic RIOK3 nonsynonymous SNV RIOK3:NM_001348193:exon11:c.C1292T:p.S431L,RIOK3:NM_003831:exon11:c.C1340T:p.S447L 0.0012 . 0.0014 . 0.005 . 0.0037 0.0008 0.0010 0 0.0050 0.0056 0.0033 0.0009 0.0045 0.0011 0.0063 . 0.016 rs56282762 COSM1388009 1(kidney);1(large_intestine) . . . . . . . . . . . 0.393 0.107 T 0.92 0.490 P 0.557 0.476 P 0.001 0.392 N 1.000 0.588 D 1.585 0.400 L 3.29 0.065 T -1.08 0.281 N 0.658 0.696 -1.075 0.083 T 0.020 0.084 T 0.040 0.593 D 4.846 0.651 24.8 0.992 0.550 0.997 0.987 D c 0.331 0.485 1.000 0.747 0.707 0.730 0 5.96 0.967 7.514 0.805 0.922 0.432 1.000 0.715 0.979 0.486 20.477 0.992 Protein kinase-like domain|RIO kinase . . 0.0036 0.0008 0.0011 0.0025 0 0.0059 0.0057 0.0029 0.0009 0.0045 0.0013 0.0012 0 0 0.0066 0.0068 0.0010 het 2413.70 166 18 21057228 . C T 2413.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.990;DP=166;DS;Dels=0.00;FS=3.339;HRun=1;HaplotypeScore=1.9860;MQ=59.86;MQ0=0;MQRankSum=-1.364;QD=14.54;ReadPosRankSum=1.176;VQSLOD=4.9759;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,88:166:99:2444,0,1835 18 21119949 21119949 T A exonic NPC1 nonsynonymous SNV NPC1:NM_000271:exon18:c.A2621T:p.D874V . . . . . . 3.308e-05 0 0 0 0 6.011e-05 0 0 0.0001 . 0.0001 . . rs372030650 . . Pathogenic Niemann-Pick_disease_type_C1 RCV000175270.1 MedGen:OMIM C3179455:257220 . . . . . . 0.011 0.555 D 0.431 0.338 B 0.482 0.453 P 0.000 0.843 D 1 0.810 D 3.465 0.926 M -3.36 0.941 D -5.48 0.857 D 0.832 0.915 0.919 0.959 D 0.873 0.958 D 0.388 0.932 D 4.432 0.593 24.2 0.977 0.349 0.985 0.831 D c 0.353 0.331 1.000 0.747 0.707 0.730 0 5.67 0.876 6.099 0.709 1.061 0.807 1.000 0.715 0.705 0.310 16.201 0.818 . . . 5.28e-05 0 2.978e-05 0 0 0 9.852e-05 0.0002 0 9.691e-05 0 0 0 0 0 0.0002 0 het 1470.04 134 18 21119949 . T A 1470.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.060;DP=134;Dels=0.00;FS=1.531;HRun=2;HaplotypeScore=4.5098;MQ=59.20;MQ0=0;MQRankSum=0.114;QD=10.97;ReadPosRankSum=1.228;VQSLOD=4.0276;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,60:134:99:1500,0,1932 18 21413869 21413869 T C exonic LAMA3 synonymous SNV LAMA3:NM_001127717:exon24:c.T2901C:p.A967A,LAMA3:NM_198129:exon24:c.T2901C:p.A967A 0.62 0.52 0.55 0.74 0.71 0.62 0.6631 0.5386 0.5095 0.7650 0.6438 0.7074 0.66 0.6205 0.65 0.55 0.7 0.66 0.52 rs9962023 COSM4130939 1(thyroid) Benign not_specified RCV000456107.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6592 0.5337 0.5186 0.7792 0.7640 0.6500 0.7034 0.6986 0.6176 0.6500 0.5419 0.5609 0.8146 0.7621 0.6394 0.7038 0.6680 het 3949.46 250 18 21413869 . T C 3949.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.916;DP=250;DS;Dels=0.00;FS=0.974;HRun=1;HaplotypeScore=5.4650;MQ=59.55;MQ0=0;MQRankSum=1.214;QD=15.80;ReadPosRankSum=-0.794;VQSLOD=4.9108;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,117:250:99:3283,0,3715 18 21424991 21424991 C A exonic LAMA3 nonsynonymous SNV LAMA3:NM_001127717:exon30:c.C3622A:p.P1208T,LAMA3:NM_198129:exon30:c.C3622A:p.P1208T 0.046 0.0015 0.04 0.052 0.073 0.08 0.0640 0.0114 0.0333 0.0343 0.0818 0.0733 0.0681 0.0875 0.048 0.014 0.064 0.033 0.025 rs17202961 COSM3756098 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.968 0.701 D . . . 1 0.810 D 3.3 0.907 M 1.74 0.266 T -6.9 0.933 D 0.301 0.361 -0.949 0.412 T 0.024 0.103 T . . . 5.170 0.698 25.5 0.995 0.702 0.989 0.886 D c 0.700 0.612 1.0 0.983 0.615 0.372 0 5.46 0.799 4.537 0.601 0.935 0.490 1.000 0.715 0.969 0.458 19.685 0.960 . . . 0.0641 0.0105 0.0331 0.1030 0.0344 0.0876 0.0707 0.0657 0.0881 0.0482 0.0132 0.0348 0.1060 0.0370 0.0822 0.0604 0.0631 het 870.22 72 18 21424991 . C A 870.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.214;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=57.71;MQ0=0;MQRankSum=-0.338;QD=12.09;ReadPosRankSum=2.208;VQSLOD=4.3753;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:900,0,894 18 21481233 21481233 C G exonic LAMA3 synonymous SNV LAMA3:NM_001127718:exon10:c.C1152G:p.A384A,LAMA3:NM_000227:exon11:c.C1320G:p.A440A,LAMA3:NM_001127717:exon47:c.C5979G:p.A1993A,LAMA3:NM_198129:exon48:c.C6147G:p.A2049A 0.17 0.015 0.19 0.19 0.26 0.24 0.2343 0.0478 0.1908 0.1635 0.3269 0.2662 0.2622 0.2515 0.2 0.058 0.27 0.11 0.34 rs1154226 COSM1179776;COSM1179775 1(prostate);1(large_intestine) Benign|Benign|Benign not_specified|Laryngoonychocutaneous_syndrome|Epidermolysis_bullosa\x2c_junctional RCV000241986.1|RCV000350792.1|RCV000386499.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C1328355:245660:ORPHA2407|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2384 0.0443 0.1968 0.1898 0.1679 0.3209 0.2719 0.2276 0.2563 0.2093 0.0561 0.2100 0.1391 0.1772 0.3348 0.2717 0.2464 het 1313.31 112 18 21481233 . C G 1313.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.878;DP=112;Dels=0.00;FS=2.441;HRun=0;HaplotypeScore=3.6981;MQ=59.33;MQ0=0;MQRankSum=0.064;QD=11.73;ReadPosRankSum=1.649;VQSLOD=5.5378;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,53:112:99:1343,0,1459 18 21511034 21511034 C A exonic LAMA3 nonsynonymous SNV LAMA3:NM_001127718:exon27:c.C3450A:p.N1150K,LAMA3:NM_000227:exon28:c.C3618A:p.N1206K,LAMA3:NM_001127717:exon64:c.C8277A:p.N2759K,LAMA3:NM_198129:exon65:c.C8445A:p.N2815K 0.16 0.039 0.17 0.18 0.21 0.23 0.1889 0.0583 0.1766 0.1619 0.2545 0.1972 0.2093 0.2328 0.15 0.062 0.2 0.076 0.26 rs1154232 . . Benign|Benign|Benign not_specified|Laryngoonychocutaneous_syndrome|Epidermolysis_bullosa\x2c_junctional RCV000250312.1|RCV000264313.1|RCV000328887.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C1328355:245660:ORPHA2407|C0079301:ORPHA305 . . . . . . 0.235 0.218 T 0.0 0.090 B 0.006 0.112 B . . . 0.000 0.588 P 1.355 0.339 L -1.1 0.773 T -0.43 0.144 N 0.101 0.104 -1.097 0.044 T 0.000 0.001 T . . . 0.727 0.163 9.004 0.914 0.201 0.052 0.109 N c -0.704 -0.688 0.872 0.254 0.638 0.428 0 2.56 0.297 -0.017 0.124 0.935 0.490 0.035 0.205 0.696 0.308 5.053 0.138 Concanavalin A-like lectin/glucanase domain;Concanavalin A-like lectin/glucanase domain|Laminin G domain ENSG00000168234.8|ENSG00000053747.11|ENSG00000053747.11|ENSG00000267301.1|ENSG00000053747.11 Esophagus_Muscularis|Heart_Left_Ventricle|Nerve_Tibial|Pancreas|Pancreas 0.1931 0.0563 0.1751 0.1408 0.1648 0.2509 0.2031 0.1797 0.2372 0.1712 0.0666 0.1838 0.1126 0.1675 0.2555 0.2115 0.2 het 1837.02 160 18 21511034 . C A 1837.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.338;DP=160;Dels=0.00;FS=1.259;HRun=2;HaplotypeScore=3.5588;MQ=58.61;MQ0=0;MQRankSum=1.160;QD=11.48;ReadPosRankSum=-0.111;VQSLOD=6.1374;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,76:160:99:1867,0,2035 18 21511089 21511089 A G exonic LAMA3 nonsynonymous SNV LAMA3:NM_001127718:exon27:c.A3505G:p.S1169G,LAMA3:NM_000227:exon28:c.A3673G:p.S1225G,LAMA3:NM_001127717:exon64:c.A8332G:p.S2778G,LAMA3:NM_198129:exon65:c.A8500G:p.S2834G 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1 1 0.9999 . . . 1. 1. rs1154233 COSM4590318;COSM4590317 23(upper_aerodigestive_tract) Benign|Benign|Benign not_specified|Laryngoonychocutaneous_syndrome|Epidermolysis_bullosa\x2c_junctional RCV000242248.1|RCV000270352.1|RCV000383453.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C1328355:245660:ORPHA2407|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9998 1.0000 1 1 1 1.0000 1 1.0000 0.9999 0.9999 1 1 1 1 0.9999 0.9980 hom 3955.31 124 18 21511089 . A G 3955.31 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5856;MQ=59.81;MQ0=0;QD=31.90;VQSLOD=7.2541;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3955,316,0 18 21513768 21513768 C T exonic LAMA3 synonymous SNV LAMA3:NM_001127718:exon29:c.C3736T:p.L1246L,LAMA3:NM_000227:exon30:c.C3904T:p.L1302L,LAMA3:NM_001127717:exon66:c.C8563T:p.L2855L,LAMA3:NM_198129:exon67:c.C8731T:p.L2911L 0.15 0.011 0.16 0.18 0.21 0.23 0.1860 0.0363 0.1765 0.1618 0.2464 0.1964 0.2080 0.2323 0.15 0.043 0.2 0.087 0.26 rs1131521 COSM3756100;COSM3756099 1(large_intestine) Benign|Benign|Benign not_specified|Laryngoonychocutaneous_syndrome|Epidermolysis_bullosa\x2c_junctional RCV000252202.1|RCV000309977.1|RCV000362299.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C1328355:245660:ORPHA2407|C0079301:ORPHA305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1907 0.0340 0.1743 0.1403 0.1649 0.2447 0.2027 0.1764 0.2368 0.1638 0.0456 0.1826 0.1126 0.1685 0.2479 0.2105 0.1935 het 783.68 76 18 21513768 . C T 783.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.430;DP=76;Dels=0.00;FS=1.957;HRun=1;HaplotypeScore=5.7546;MQ=58.39;MQ0=0;MQRankSum=0.102;QD=10.31;ReadPosRankSum=-0.659;VQSLOD=4.9743;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,32:76:99:814,0,1256 18 21710321 21710321 C T exonic TTC39C synonymous SNV TTC39C:NM_001292030:exon7:c.C642T:p.N214N,TTC39C:NM_001135993:exon12:c.C1563T:p.N521N,TTC39C:NM_153211:exon12:c.C1380T:p.N460N 0.99 0.97 1. 1. 1. 1. 0.9974 0.9719 0.9984 1 1 0.9999 1 1 0.99 0.98 1. 0.88 0.98 rs12970083 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9709 0.9987 1 1 1 0.9999 0.9986 1.0000 0.9932 0.9773 0.9976 1 1 1 0.9998 0.9939 hom 6085.04 202 18 21710321 . C T 6085.04 Mask AC=2;AF=1.00;AN=2;DP=202;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7363;MQ=58.80;MQ0=0;QD=30.12;VQSLOD=7.9656;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,202:202:99:6084,466,0 18 21736933 21736933 T G exonic CABYR nonsynonymous SNV CABYR:NM_001308231:exon2:c.T1174G:p.S392A,CABYR:NM_153768:exon3:c.T1414G:p.S472A,CABYR:NM_012189:exon4:c.T1468G:p.S490A 0.85 0.87 0.83 0.86 0.81 0.89 0.8301 0.8634 0.8298 0.8324 0.7175 0.8230 0.8053 0.8845 0.84 0.86 0.83 0.89 0.88 rs1049683 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.487 0.121 N 1 0.090 P -1.735 0.003 N 2.56 0.137 T 0.7 0.022 N 0.015 0.186 -1.028 0.211 T 0.000 0.000 T . . . 1.634 0.258 14.04 0.879 0.170 0.002 0.012 N c -0.834 -0.649 0.043 0.146 0.635 0.413 0 4.46 0.534 1.372 0.336 0.136 0.221 0.760 0.290 0.961 0.442 6.598 0.217 . . . 0.8303 0.8631 0.8400 0.8912 0.8360 0.7198 0.8230 0.8446 0.8843 0.8222 0.8606 0.8469 0.8974 0.8375 0.7235 0.8197 0.7994 hom 2874.35 89 18 21736933 . T G 2874.35 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.693;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.097;QD=32.30;ReadPosRankSum=0.331;VQSLOD=14.0333;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,88:89:99:2907,223,0 18 22020543 22020543 C G exonic IMPACT nonsynonymous SNV IMPACT:NM_018439:exon6:c.C451G:p.L151V 0.87 0.94 0.98 0.66 0.94 0.85 0.9035 0.9377 0.9729 0.6615 0.9259 0.9228 0.9117 0.8720 0.93 0.94 0.92 0.89 0.91 rs677688 COSM5425327 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.781 0.033 T 0.0 0.026 B 0.0 0.013 B 0.453 0.125 N 1 0.090 P -1.845 0.003 N 1.55 0.299 T 0.27 0.043 N 0.028 0.179 -1.026 0.219 T 0.000 0.000 T . . . -0.779 0.041 0.048 0.485 0.040 0.001 0.005 N c -1.536 -1.411 0.001 0.078 0.707 0.730 0 2.38 0.283 0.698 0.251 -0.276 0.085 0.001 0.137 0.005 0.090 4.381 0.106 . . . 0.9064 0.9362 0.9696 0.9421 0.6622 0.9281 0.9223 0.9209 0.8720 0.9150 0.9364 0.9642 0.9536 0.6731 0.9275 0.9217 0.9185 hom 5272.81 166 18 22020543 . C G 5272.81 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=31.76;VQSLOD=9.5962;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5272,400,0 18 22804549 22804549 G C exonic ZNF521 synonymous SNV ZNF521:NM_001308225:exon3:c.C2673G:p.P891P,ZNF521:NM_015461:exon4:c.C3333G:p.P1111P 0.013 . 0.014 0.002 0.018 0.034 0.0199 0.0036 0.0086 0.0001 0.0235 0.0230 0.0154 0.0351 0.016 0.005 0.021 . . rs34380309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0198 0.0041 0.0102 0.0386 0.0002 0.0204 0.0220 0.0175 0.0353 0.0138 0.0045 0.0048 0.0298 0 0.0232 0.0185 0.0184 het 1355.96 95 18 22804549 . G C 1355.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.636;DP=95;Dels=0.00;FS=7.056;HRun=2;HaplotypeScore=2.9811;MQ=60.00;MQ0=0;MQRankSum=1.068;QD=14.27;ReadPosRankSum=2.088;VQSLOD=3.3209;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,48:95:99:1386,0,1190 18 23866185 23866185 G C exonic TAF4B nonsynonymous SNV TAF4B:NM_001293725:exon7:c.G1312C:p.V438L,TAF4B:NM_005640:exon7:c.G1312C:p.V438L 0.044 0.015 0.066 0.0089 0.095 0.053 0.0789 0.0324 0.0463 0.0120 0.0992 0.1014 0.0924 0.0649 0.081 0.033 0.1 0.011 0.17 rs74947492 . . . . . . . . . . . . . 0.131 0.274 T 0.278 0.303 B 0.057 0.248 B 0.006 0.323 N 1.000 0.189 P 2.14 0.601 M 1.91 0.235 T -1.31 0.328 N 0.109 0.192 -1.020 0.239 T 0.001 0.003 T . . . 0.967 0.186 10.47 0.944 0.241 0.114 0.164 N c -0.605 -0.473 0.905 0.261 0.707 0.730 0 2.91 0.328 -0.080 0.112 0.154 0.240 0.000 0.063 0.986 0.517 4.449 0.110 . ENSG00000141384.7|ENSG00000141384.7 Artery_Tibial|Muscle_Skeletal 0.0793 0.0309 0.0501 0.1381 0.0119 0.0907 0.1012 0.0944 0.0639 0.0739 0.0359 0.0788 0.1192 0.0191 0.0928 0.0951 0.0927 het 1187.41 96 18 23866185 . G C 1187.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.923;DP=96;Dels=0.00;FS=3.855;HRun=0;HaplotypeScore=8.1384;MQ=58.24;MQ0=0;MQRankSum=1.039;QD=12.37;ReadPosRankSum=-0.752;VQSLOD=4.1371;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,43:96:99:1217,0,1391 18 23873463 23873463 T C exonic TAF4B synonymous SNV TAF4B:NM_001293725:exon9:c.T1815C:p.N605N,TAF4B:NM_005640:exon9:c.T1800C:p.N600N 0.51 0.093 0.55 0.8 0.57 0.68 0.5906 0.1655 0.6001 0.8325 0.5755 0.5892 0.5993 0.7154 0.46 0.18 0.58 0.36 0.42 rs1677016 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5859 0.1573 0.5825 0.7144 0.8266 0.5696 0.5753 0.5827 0.7092 0.4709 0.1716 0.5801 0.6921 0.8284 0.5736 0.5648 0.5767 hom 1455.34 48 18 23873463 . T C 1455.34 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=58.43;MQ0=0;QD=30.32;VQSLOD=9.0596;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:48:99:1488,111,0 18 25543387 25543387 G A exonic CDH2 synonymous SNV CDH2:NM_001308176:exon14:c.C2355T:p.A785A,CDH2:NM_001792:exon15:c.C2448T:p.A816A 0.33 0.15 0.46 0.42 0.34 0.36 0.3339 0.1776 0.4932 0.4133 0.3541 0.3088 0.3634 0.3711 0.27 0.18 0.31 0.33 0.17 rs1041985 COSM148413 1(stomach);1(haematopoietic_and_lymphoid_tissue);11(soft_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3417 0.1708 0.4678 0.3016 0.4167 0.3587 0.3083 0.3459 0.3681 0.2889 0.1659 0.4556 0.2351 0.4202 0.3618 0.3182 0.3316 hom 2945.96 96 18 25543387 . G A 2945.96 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.98;MQ0=0;QD=30.69;VQSLOD=9.0899;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2979,229,0 18 25565082 25565082 A G exonic CDH2 synonymous SNV CDH2:NM_001308176:exon12:c.T1998C:p.R666R,CDH2:NM_001792:exon13:c.T2091C:p.R697R 0.99 0.96 1. 1. 1. 1. 0.9971 0.9672 0.9992 1 1 1.0000 1 0.9999 0.99 0.97 1. 0.97 0.99 rs1220144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9977 0.9655 0.9990 0.9999 1 1 1.0000 0.9991 0.9999 0.9908 0.9679 0.9988 1 1 1 0.9999 0.9969 hom 2263.06 77 18 25565082 . A G 2263.06 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.048;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5193;MQ=58.50;MQ0=0;MQRankSum=2.322;QD=29.39;ReadPosRankSum=-2.066;VQSLOD=6.4805;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,75:77:99:2296,148,0 18 25570228 25570228 G C exonic CDH2 synonymous SNV CDH2:NM_001308176:exon9:c.C1338G:p.P446P,CDH2:NM_001792:exon10:c.C1431G:p.P477P 0.99 0.98 1. 1. 1. 1. 0.9982 0.9793 0.9994 1 1 1.0000 1 0.9999 0.99 0.98 1. 0.99 1. rs1628684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9985 0.9776 0.9992 1 1 1 1.0000 0.9996 0.9999 0.9940 0.9791 0.9988 1 1 1 0.9999 0.9980 hom 2201.27 75 18 25570228 . G C 2201.27 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=29.35;VQSLOD=8.5612;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2234,184,0 18 28586964 28586964 A G exonic DSC3 synonymous SNV DSC3:NM_001941:exon12:c.T1797C:p.P599P,DSC3:NM_024423:exon12:c.T1797C:p.P599P 0.59 0.83 0.38 0.79 0.31 0.52 0.4109 0.7754 0.3250 0.7327 0.3480 0.3146 0.4117 0.4861 0.47 0.76 0.32 0.64 0.31 rs1313586 COSM4000386;COSM148415 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4009 0.7814 0.3324 0.3212 0.7315 0.3428 0.3160 0.3684 0.4823 0.4743 0.7657 0.3361 0.29 0.7237 0.3480 0.3244 0.3885 het 1130.31 102 18 28586964 . A G 1130.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.102;DP=102;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5810;MQ=59.55;MQ0=0;MQRankSum=0.698;QD=11.08;ReadPosRankSum=-0.596;VQSLOD=6.6922;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,47:102:99:1160,0,1357 18 28610988 28610988 C T exonic DSC3 nonsynonymous SNV DSC3:NM_001941:exon3:c.G305A:p.R102K,DSC3:NM_024423:exon3:c.G305A:p.R102K 0.44 0.32 0.34 0.68 0.35 0.49 0.3948 0.3346 0.3424 0.7008 0.4709 0.3372 0.4305 0.5099 0.33 0.34 0.32 0.46 0.33 rs276938 COSM5654349;COSM5654348 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.429 0.127 T 0.0 0.026 B 0.004 0.093 B . . . 1 0.090 P -1.39 0.006 N 0.2 0.601 T 0.43 0.033 N 0.016 0.003 -0.966 0.381 T 0.000 0.000 T . . . -0.568 0.052 0.150 0.616 0.066 0.010 0.037 N c -1.419 -1.345 0.128 0.170 0.554 0.246 0 1.64 0.228 1.622 0.364 -0.446 0.057 0.048 0.211 0.004 0.083 5.100 0.140 Cadherin|Cadherin prodomain|Cadherin-like . . 0.3944 0.3378 0.3437 0.3177 0.6993 0.4658 0.3334 0.3683 0.5060 0.3819 0.3391 0.3261 0.2848 0.6873 0.4705 0.3552 0.4271 het 956.30 90 18 28610988 . C T 956.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DP=90;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=58.22;MQ0=0;MQRankSum=-0.467;QD=10.63;ReadPosRankSum=-0.313;VQSLOD=5.9516;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,40:90:99:986,0,1211 18 28611061 28611061 A T exonic DSC3 nonsynonymous SNV DSC3:NM_001941:exon3:c.T232A:p.S78T,DSC3:NM_024423:exon3:c.T232A:p.S78T 0.43 0.31 0.34 0.68 0.35 0.49 0.3937 0.3272 0.3403 0.7053 0.4698 0.3363 0.4316 0.5099 0.33 0.33 0.32 0.45 0.26 rs276937 COSM5445272;COSM5445273 1(oesophagus) . . . . . . . . . . . 0.102 0.302 T 0.267 0.382 B 0.344 0.408 B . . . 1.000 0.090 P 2.335 0.672 M 1.13 0.386 T -1.48 0.362 N 0.079 0.077 -0.974 0.364 T 0.000 0.000 T . . . -0.082 0.086 1.865 0.913 0.200 0.641 0.320 D c -0.459 -0.503 0.364 0.198 0.638 0.428 0 2.83 0.320 3.663 0.540 1.199 0.960 0.999 0.424 0.859 0.359 7.204 0.249 Cadherin|Cadherin prodomain|Cadherin-like . . 0.3938 0.3311 0.3428 0.3173 0.7038 0.4653 0.3325 0.3671 0.5060 0.3800 0.3302 0.3297 0.2833 0.6942 0.4710 0.3558 0.4255 het 694.62 61 18 28611061 . A T 694.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.363;DP=61;Dels=0.00;FS=1.078;HRun=0;HaplotypeScore=0.9995;MQ=57.39;MQ0=0;MQRankSum=-0.007;QD=11.39;ReadPosRankSum=0.151;VQSLOD=4.6397;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,30:61:99:725,0,793 18 28734749 28734749 A G exonic DSC1 synonymous SNV DSC1:NM_004948:exon5:c.T615C:p.Y205Y,DSC1:NM_024421:exon5:c.T615C:p.Y205Y 0.48 0.21 0.57 0.67 0.62 0.44 0.5621 0.2704 0.5984 0.6570 0.6815 0.5986 0.6020 0.4699 0.47 0.28 0.58 0.39 0.48 rs2249810 COSM1750493;COSM1750492 2(urinary_tract);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5633 0.2602 0.5927 0.5399 0.6513 0.6826 0.5872 0.5823 0.4636 0.5120 0.2727 0.5873 0.5430 0.6375 0.6854 0.5881 0.5820 hom 958.78 34 18 28734749 . A G 958.78 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;QD=28.20;VQSLOD=8.4809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:81.23:992,81,0 18 28737407 28737407 G A exonic DSC1 nonsynonymous SNV DSC1:NM_004948:exon3:c.C278T:p.S93F,DSC1:NM_024421:exon3:c.C278T:p.S93F 0.021 0.0008 0.042 . 0.068 0.0061 0.0387 0.0108 0.0284 0.0003 0.0364 0.0582 0.0452 0.0055 0.045 0.014 0.061 0.022 0.033 rs35338395 . . . . . . . . . . . . . 0.036 0.433 D 0.007 0.151 B 0.018 0.173 B 0.024 0.264 N 0.980 0.396 D 1.445 0.365 L 1.01 0.411 T -2.95 0.637 D 0.086 0.081 -1.103 0.037 T 0.011 0.039 T . . . 2.677 0.383 20.7 0.988 0.453 0.700 0.341 D c -0.430 -0.352 1.000 0.458 0.487 0.133 0 2.8 0.317 1.390 0.339 0.135 0.219 1.000 0.715 0.947 0.422 6.590 0.217 Cadherin|Cadherin prodomain|Cadherin-like . . 0.0394 0.0110 0.0301 0.0357 0.0002 0.0336 0.0625 0.0432 0.0064 0.0391 0.0081 0.0251 0.0265 0 0.0370 0.0631 0.0367 het 1080.44 68 18 28737407 . G A 1080.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.472;DP=68;Dels=0.00;FS=2.045;HRun=5;HaplotypeScore=0.0000;MQ=58.74;MQ0=0;MQRankSum=0.345;QD=15.89;ReadPosRankSum=0.640;VQSLOD=5.1509;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,37:68:99:1110,0,838 18 28898294 28898294 A G exonic DSG1 nonsynonymous SNV DSG1:NM_001942:exon1:c.A31G:p.M11V 0.36 0.43 0.3 0.069 0.49 0.48 0.4344 0.4496 0.1992 0.0592 0.5587 0.4959 0.4581 0.4869 0.48 0.47 0.49 0.39 0.48 rs1426310 . . Benign not_specified RCV000455447.1 MedGen CN169374 . . . . . . 0.961 0.021 T 0.0 0.026 B 0.0 0.013 B 0.394 0.132 N 1 0.090 P -1.79 0.003 N 0.59 0.540 T 0.47 0.031 N 0.04 0.020 -0.919 0.457 T 0.000 0.000 T . . . -0.316 0.067 0.609 0.580 0.058 0.053 0.111 N c -1.019 -0.782 0.992 0.325 0.487 0.133 0 4.32 0.507 1.455 0.346 -0.304 0.080 0.796 0.294 0.392 0.253 6.066 0.190 . . . 0.4237 0.4506 0.2131 0.4503 0.0557 0.5668 0.4906 0.4587 0.4867 0.4572 0.4374 0.2596 0.4338 0.0445 0.5693 0.4984 0.4621 het 1408.46 132 18 28898294 . A G 1408.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.154;DP=132;Dels=0.00;FS=0.654;HRun=0;HaplotypeScore=0.9987;MQ=58.30;MQ0=0;MQRankSum=-1.520;QD=10.67;ReadPosRankSum=-0.261;VQSLOD=4.9353;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,59:132:99:1438,0,1806 18 28913599 28913599 C T exonic DSG1 synonymous SNV DSG1:NM_001942:exon7:c.C732T:p.G244G 0.33 0.29 0.29 0.067 0.5 0.49 0.4343 0.3071 0.1961 0.0565 0.5890 0.5132 0.4615 0.4969 0.44 0.32 0.5 0.32 0.48 rs12967407 COSM4130948 1(thyroid) Benign not_specified RCV000456022.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4245 0.3050 0.2073 0.4540 0.0530 0.5977 0.5046 0.4627 0.4971 0.4294 0.3076 0.2566 0.4371 0.0440 0.5962 0.5097 0.4663 het 1134.45 108 18 28913599 . C T 1134.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.982;DP=108;Dels=0.00;FS=2.483;HRun=0;HaplotypeScore=2.9310;MQ=59.70;MQ0=0;MQRankSum=0.417;QD=10.50;ReadPosRankSum=0.510;VQSLOD=6.3591;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,48:108:99:1164,0,1557 18 28968371 28968371 G A exonic DSG4 synonymous SNV DSG4:NM_001134453:exon4:c.G258A:p.R86R,DSG4:NM_177986:exon4:c.G258A:p.R86R 0.72 0.53 0.86 0.88 0.76 0.67 0.7453 0.5506 0.8877 0.9020 0.6993 0.7538 0.7539 0.6701 0.69 0.56 0.76 0.69 0.73 rs16959856 . . Benign Localized_AR_Hypotrichosis RCV000398447.1 MedGen CN239201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7549 0.5446 0.8804 0.7543 0.8982 0.7001 0.7573 0.7716 0.6708 0.7056 0.5517 0.8458 0.7748 0.8995 0.7016 0.7637 0.7398 hom 1554.87 56 18 28968371 . G A 1554.87 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.609;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.114;QD=27.77;ReadPosRankSum=-0.619;VQSLOD=13.9372;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,55:56:99:1588,123,0 18 28968959 28968959 C T exonic DSG4 synonymous SNV DSG4:NM_001134453:exon5:c.C495T:p.S165S,DSG4:NM_177986:exon5:c.C495T:p.S165S 0.8 0.79 0.88 0.94 0.77 0.68 0.7743 0.8078 0.9088 0.9558 0.6986 0.7542 0.7698 0.6756 0.78 0.81 0.76 0.79 0.75 rs9956865 . . Benign Localized_AR_Hypotrichosis RCV000398270.1 MedGen CN239201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7793 0.8078 0.9009 0.7547 0.9542 0.6999 0.7579 0.7851 0.6765 0.7839 0.8136 0.8765 0.7748 0.9549 0.7010 0.7643 0.7541 hom 3216.83 119 18 28968959 . C T 3216.83 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.10;MQ0=0;QD=27.03;VQSLOD=7.7728;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3250,253,0 18 28986333 28986333 A C exonic DSG4 nonsynonymous SNV DSG4:NM_001134453:exon12:c.A1930C:p.I644L,DSG4:NM_177986:exon12:c.A1930C:p.I644L 0.97 1. 0.96 1. 0.91 0.96 0.9203 0.9829 0.9639 0.9998 0.9041 0.8864 0.9205 0.9519 0.92 0.98 0.9 0.96 0.9 rs4799570 . . Benign Localized_AR_Hypotrichosis RCV000309846.1 MedGen CN239201 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.117 0.191 N 1.000 0.090 P -3.25 0.000 N 0.95 0.433 T 1.34 0.009 N 0.146 0.172 -0.968 0.376 T 0.000 0.000 T . . . -0.054 0.089 2.100 0.478 0.039 0.020 0.060 N c -1.106 -0.822 0.997 0.347 0.487 0.133 0 4.77 0.603 0.611 0.238 0.067 0.174 0.970 0.340 0.466 0.265 5.462 0.158 . . . 0.9210 0.9834 0.9611 0.8279 0.9995 0.9022 0.8921 0.9160 0.9513 0.9310 0.9807 0.9463 0.8709 1 0.9006 0.9030 0.9145 hom 6260.99 195 18 28986333 . A C 6260.99 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.714;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;MQRankSum=0.844;QD=32.11;ReadPosRankSum=-0.240;VQSLOD=9.7589;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,194:195:99:6261,476,0 18 28993183 28993183 A G exonic DSG4 synonymous SNV DSG4:NM_001134453:exon15:c.A2805G:p.P935P,DSG4:NM_177986:exon16:c.A2748G:p.P916P 0.39 0.18 0.49 0.51 0.48 0.41 0.4430 0.2255 0.4474 0.5208 0.4525 0.4706 0.4593 0.4200 0.39 0.23 0.47 0.25 0.52 rs12960081 COSM5425445;COSM5425444 2(haematopoietic_and_lymphoid_tissue) Benign Localized_AR_Hypotrichosis RCV000264608.1 MedGen CN239201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4496 0.2227 0.4620 0.4393 0.5241 0.4439 0.4743 0.4694 0.4210 0.4164 0.2334 0.4558 0.4735 0.5281 0.4536 0.4965 0.4551 hom 7816.10 250 18 28993183 . A G 7816.10 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3930;MQ=59.00;MQ0=0;QD=31.26;VQSLOD=5.7971;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7815,659,0 18 28993501 28993501 C A exonic DSG4 synonymous SNV DSG4:NM_001134453:exon15:c.C3123A:p.P1041P,DSG4:NM_177986:exon16:c.C3066A:p.P1022P 0.74 0.67 0.7 0.9 0.75 0.71 0.7239 0.6953 0.6248 0.8865 0.7049 0.7355 0.7252 0.6870 0.72 0.69 0.74 0.71 0.78 rs7234288 . . Benign Localized_AR_Hypotrichosis RCV000290890.1 MedGen CN239201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7214 0.6937 0.6418 0.7049 0.8872 0.7046 0.7376 0.7339 0.6857 0.7340 0.7073 0.6563 0.7351 0.8954 0.7050 0.7431 0.7331 hom 6458.63 207 18 28993501 . C A 6458.63 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.009;DP=207;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9125;MQ=58.81;MQ0=0;MQRankSum=1.581;QD=31.20;ReadPosRankSum=1.614;VQSLOD=7.7677;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,206:207:99:6425,472,0 18 29055957 29055957 A G exonic DSG3 nonsynonymous SNV DSG3:NM_001944:exon16:c.A2734G:p.T912A 1. 1. 1. 1. 1. 1. 0.9985 0.9996 0.9990 1 0.9994 0.9976 0.9967 0.9999 1. 1. 1. 1. 0.95 rs1380866 . . . . . . . . . . . . . 0.4 0.105 T 0.0 0.026 B 0.0 0.013 B 0.381 0.134 N 1 0.090 P -1.175 0.009 N 0.18 0.604 T -0.11 0.087 N 0.021 0.005 -1.029 0.207 T 0.000 0.000 T . . . -0.197 0.076 1.116 0.719 0.095 0.027 0.072 N c -1.307 -1.254 0.068 0.154 0.554 0.246 0 1.12 0.196 -0.809 0.046 -0.200 0.102 0.000 0.063 0.000 0.016 5.732 0.172 . . . 0.9983 0.9997 0.9986 0.9889 0.9999 0.9991 0.9979 0.9980 1.0000 0.9987 0.9995 0.9952 0.9934 1 0.9986 0.9985 0.9980 hom 3934.84 124 18 29055957 . A G 3934.84 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7129;MQ=58.68;MQ0=0;QD=31.73;VQSLOD=9.2225;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3934,328,0 18 29101156 29101156 T G exonic DSG2 nonsynonymous SNV DSG2:NM_001943:exon5:c.T473G:p.V158G 0.0014 . 0.0014 . 0.005 0.001 0.0054 0.0017 0.0022 0 0.0086 0.0078 0.0033 0.0016 0.0062 0.0024 0.0079 . . rs191143292 COSM1580808 3(haematopoietic_and_lymphoid_tissue) other|other|Benign|Likely benign|Benign not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy\x2c_type_10|Arrhythmogenic_right_ventricular_dysplasia\x2c_familial_1|Cardiovascular_phenotype RCV000037307.5|RCV000148470.3|RCV000205561.3|RCV000211473.1|RCV000250164.1 MedGen|MedGen:Orphanet:SNOMED_CT:SNOMED_CT|MedGen:OMIM|MedGen:OMIM|MedGen CN169374|C0349788:ORPHA247:253528005:281170005|C1857777:610193|C1862511:107970|CN230736 . . . . . . 0.0 0.912 D 0.05 0.209 B 0.03 0.205 B 0.003 0.351 U 1.000 0.588 D 4.135 0.976 H 0.02 0.623 T -6.55 0.918 D 0.793 0.783 -0.566 0.662 T 0.226 0.591 T 0.127 0.809 D 4.014 0.539 23.6 0.705 0.090 0.966 0.695 D c -0.246 -0.211 0.941 0.274 0.732 0.924 0 3.16 0.353 3.830 0.552 1.061 0.807 1.000 0.715 0.999 0.750 8.751 0.336 Cadherin|Cadherin-like . . 0.0053 0.0013 0.0039 0.0007 0 0.0083 0.0080 0.0060 0.0015 0.0062 0.0017 0.0012 0 0 0.0075 0.0096 0.0051 het 1855.86 135 18 29101156 . T G 1855.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.219;DP=135;Dels=0.00;FS=0.677;HRun=1;HaplotypeScore=3.4433;MQ=58.93;MQ0=0;MQRankSum=1.333;QD=13.75;ReadPosRankSum=0.378;VQSLOD=4.5429;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,74:135:99:1886,0,1540 18 29205591 29205591 T C exonic B4GALT6 nonsynonymous SNV B4GALT6:NM_001330570:exon8:c.A1018G:p.I340V,B4GALT6:NM_004775:exon9:c.A1135G:p.I379V 0.014 0.011 0.022 . 0.034 0.0051 0.0263 0.0162 0.0239 0.0003 0.0200 0.0370 0.0242 0.0075 0.033 0.02 0.04 0.011 . rs34683195 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.080 B 0.085 0.206 N 0.989 0.243 N -0.165 0.043 N 1.24 0.478 T 0.06 0.064 N 0.02 0.029 -1.025 0.222 T 0.011 0.043 T . . . -1.144 0.027 0.008 0.359 0.023 0.513 0.286 D c -1.060 -0.879 0.990 0.321 0.706 0.609 0 -0.794 0.103 0.772 0.261 -0.760 0.034 0.619 0.277 0.730 0.316 11.278 0.482 Nucleotide-diphospho-sugar transferases . . 0.0273 0.0162 0.0235 0.0667 0.0001 0.0182 0.0373 0.0360 0.0081 0.0300 0.0141 0.0239 0.0166 0 0.0200 0.0455 0.0295 het 1172.06 128 18 29205591 . T C 1172.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.818;DP=128;Dels=0.00;FS=1.435;HRun=0;HaplotypeScore=3.9789;MQ=59.15;MQ0=0;MQRankSum=0.437;QD=9.16;ReadPosRankSum=-1.228;VQSLOD=5.4583;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,50:128:99:1202,0,2055 18 29412105 29412105 A C exonic TRAPPC8 nonsynonymous SNV TRAPPC8:NM_014939:exon28:c.T4015G:p.S1339A 0.001 . 0.0014 . 0.003 0.001 0.0012 0.0003 0.0003 0 0.0003 0.0019 0 0.0007 0.0015 0.0002 0.0021 . 0.0082 rs150996649 . . . . . . . . . . . . . 0.038 0.427 D 0.917 0.488 P 0.656 0.508 P 0.000 0.843 D 1.000 0.516 D 1.56 0.396 L 2.29 0.171 T -1.2 0.305 N 0.49 0.561 -1.093 0.050 T 0.073 0.294 T 0.015 0.349 T 2.787 0.396 21.3 0.947 0.247 0.966 0.695 D c 0.461 0.498 1.000 0.747 0.732 0.924 0 5.61 0.853 5.784 0.684 1.140 0.893 1.000 0.715 0.999 0.750 15.802 0.781 . . . 0.0011 0.0002 0.0002 0 0 9.66e-05 0.0020 0.0007 0.0005 0.0014 0.0003 0 0 0 0.0006 0.0025 0 het 1079.90 104 18 29412105 . A C 1079.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.632;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1512;MQ=58.87;MQ0=0;MQRankSum=0.056;QD=10.38;ReadPosRankSum=0.353;VQSLOD=3.8673;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,51:104:99:1110,0,1192 18 29497573 29497573 A G exonic TRAPPC8 nonsynonymous SNV TRAPPC8:NM_014939:exon3:c.T410C:p.L137S 1. 1. 1. 1. 1. 1. 1.0000 0.9995 1 1 1 1 0.9989 1 1. 1. 1. 1. 0.93 rs6506948 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.928 0.271 P -2.7 0.000 N 3.51 0.255 T 3.96 0.001 N 0.216 0.697 -0.940 0.427 T 0.000 0.000 T . . . 1.873 0.286 15.42 0.985 0.419 0.198 0.206 N c -0.593 -0.230 1.000 0.500 0.732 0.924 0 6.05 0.981 7.784 0.842 0.138 0.222 1.000 0.715 0.999 0.750 15.650 0.767 . . . 0.9999 0.9993 1.0000 1 1 1 1.0000 0.9998 1 0.9998 0.9995 1 1 1 1 0.9999 0.9990 hom 7267.78 250 18 29497573 . A G 7267.78 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.8021;MQ=59.10;MQ0=0;QD=29.07;VQSLOD=4.3231;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7266,581,0 18 29782953 29782953 A G exonic MEP1B nonsynonymous SNV MEP1B:NM_001308171:exon6:c.A348G:p.I116M,MEP1B:NM_005925:exon6:c.A348G:p.I116M 0.0072 0.0015 0.0086 . 0.013 0.015 0.0155 0.0039 0.0127 0 0.0198 0.0187 0.0174 0.0175 0.013 0.0034 0.017 . . rs71361372 . . . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 0.995 0.818 D 0.000 0.843 D 0.945 0.375 D 3.74 0.951 H -0.51 0.706 T -2.79 0.590 D 0.65 0.664 -0.120 0.796 T 0.368 0.729 T . . . 4.955 0.666 25.0 0.996 0.764 0.841 0.429 D c 0.489 0.366 0.000 0.042 0.516 0.203 0 1.22 0.202 1.065 0.300 0.157 0.243 1.000 0.715 1.000 0.888 8.245 0.307 Metallopeptidase\x2c catalytic domain|Peptidase M12A\x2c astacin|Peptidase\x2c metallopeptidase . . 0.0123 0.0027 0.0082 0.0136 0 0.0165 0.0155 0.0128 0.0137 0.0121 0.0032 0.0084 0.0232 0 0.0178 0.0168 0.0173 het 419.95 33 18 29782953 . A G 419.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.648;DP=33;Dels=0.00;FS=1.500;HRun=0;HaplotypeScore=1.9985;MQ=60.00;MQ0=0;MQRankSum=0.126;QD=12.73;ReadPosRankSum=1.531;VQSLOD=5.4771;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,16:33:99:450,0,427 18 29788107 29788107 G A exonic MEP1B synonymous SNV MEP1B:NM_001308171:exon9:c.G792A:p.S264S,MEP1B:NM_005925:exon9:c.G792A:p.S264S 0.23 0.28 0.19 0.13 0.22 0.31 0.2371 0.2777 0.1822 0.1115 0.2117 0.2464 0.2249 0.2902 0.25 0.27 0.24 0.23 . rs4799640 COSM4000394 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2322 0.2795 0.1813 0.2308 0.1107 0.2186 0.2488 0.2225 0.2841 0.2466 0.2787 0.1897 0.2649 0.1183 0.2233 0.2496 0.2546 het 2573.35 230 18 29788107 . G A 2573.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.264;DP=230;DS;Dels=0.00;FS=6.482;HRun=0;HaplotypeScore=2.8091;MQ=59.74;MQ0=0;MQRankSum=-0.114;QD=11.19;ReadPosRankSum=-0.382;VQSLOD=5.0489;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:136,94:230:99:2603,0,3598 18 29795076 29795076 T C exonic MEP1B synonymous SNV MEP1B:NM_001308171:exon12:c.T1611C:p.S537S,MEP1B:NM_005925:exon12:c.T1611C:p.S537S 0.69 0.55 0.75 0.87 0.69 0.67 0.6808 0.5501 0.7821 0.8833 0.7297 0.6512 0.6960 0.6811 0.62 0.55 0.65 0.59 . rs173032 COSM3932826 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6834 0.5468 0.7643 0.6189 0.8838 0.7197 0.6478 0.6934 0.6835 0.6481 0.5508 0.7590 0.5867 0.8745 0.7239 0.6562 0.6694 het 1833.89 161 18 29795076 . T C 1833.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.675;DP=161;Dels=0.00;FS=1.980;HRun=1;HaplotypeScore=0.8667;MQ=58.63;MQ0=0;MQRankSum=0.267;QD=11.39;ReadPosRankSum=-0.843;VQSLOD=5.4744;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,71:161:99:1864,0,2190 18 29795101 29795101 T C exonic MEP1B nonsynonymous SNV MEP1B:NM_001308171:exon12:c.T1636C:p.S546P,MEP1B:NM_005925:exon12:c.T1636C:p.S546P 0.83 0.82 0.84 0.99 0.74 0.76 0.7700 0.8184 0.8697 0.9966 0.7743 0.7162 0.7806 0.7680 0.75 0.81 0.72 0.73 . rs233223 COSM4153949 1(kidney) . . . . . . . . . . . 0.555 0.065 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.204 P -1.82 0.003 N 2.11 0.199 T 2.2 0.003 N 0.075 0.065 -0.965 0.382 T 0.000 0.000 T . . . 1.130 0.203 11.38 0.857 0.155 0.046 0.101 N c -1.104 -0.867 0.016 0.128 0.487 0.133 0 4.14 0.477 0.143 0.158 0.069 0.176 0.354 0.256 0.828 0.346 9.116 0.357 MATH/TRAF domain|TRAF-like . . 0.7717 0.8192 0.8589 0.6879 0.9965 0.7670 0.7134 0.7710 0.7733 0.7738 0.8140 0.8484 0.65 0.9957 0.7759 0.7255 0.7551 het 1751.39 156 18 29795101 . T C 1751.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.781;DP=156;Dels=0.00;FS=6.049;HRun=1;HaplotypeScore=3.6972;MQ=58.71;MQ0=0;MQRankSum=1.044;QD=11.23;ReadPosRankSum=-1.296;VQSLOD=4.8420;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:87,69:156:99:1781,0,2102 18 29797921 29797921 C T exonic MEP1B nonsynonymous SNV MEP1B:NM_001308171:exon14:c.C2084T:p.P695L,MEP1B:NM_005925:exon14:c.C2084T:p.P695L 0.36 0.43 0.29 0.26 0.36 0.4 0.3710 0.3989 0.2834 0.2429 0.3618 0.3928 0.3535 0.3990 0.39 0.4 0.39 0.4 . rs616114 COSM3756126 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.018 0.015 N 1 0.090 P -2.175 0.001 N 2.25 0.178 T 2.3 0.003 N 0.033 0.013 -0.926 0.448 T 0.000 0.000 T . . . 0.350 0.128 6.164 0.729 0.098 0.001 0.009 N c -1.586 -1.475 0.000 0.042 0.487 0.133 0 0.414 0.156 0.688 0.249 -0.258 0.088 0.002 0.151 0.069 0.175 9.835 0.399 . . . 0.3666 0.3981 0.2919 0.4145 0.2436 0.3715 0.3927 0.3533 0.3899 0.3757 0.3939 0.2888 0.4437 0.2494 0.3666 0.3840 0.3809 het 985.31 70 18 29797921 . C T 985.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.707;DP=70;Dels=0.00;FS=1.116;HRun=0;HaplotypeScore=7.8029;MQ=59.64;MQ0=0;MQRankSum=-1.338;QD=14.08;ReadPosRankSum=0.762;VQSLOD=4.0023;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:34,35:70:99:1015,0,865 18 30349691 30349691 C T exonic KLHL14 synonymous SNV KLHL14:NM_020805:exon2:c.G864A:p.P288P 0.33 0.18 0.4 0.35 0.34 0.45 0.3744 0.1992 0.4819 0.3721 0.3603 0.3578 0.3715 0.5076 0.3 0.19 0.35 0.23 0.25 rs17851892 COSM3756129;COSM3756130 3(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3776 0.1901 0.4746 0.3970 0.3667 0.3675 0.3559 0.3516 0.4607 0.3078 0.1994 0.4472 0.3675 0.3536 0.3711 0.3400 0.3409 het 1960.29 118 18 30349691 . C T 1960.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.999;DP=118;Dels=0.00;FS=2.514;HRun=0;HaplotypeScore=5.1920;MQ=58.92;MQ0=0;MQRankSum=1.016;QD=16.61;ReadPosRankSum=-0.264;VQSLOD=4.7115;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:44,74:118:99:1990,0,1039 18 30804756 30804756 C T exonic CCDC178 nonsynonymous SNV CCDC178:NM_001105528:exon16:c.G1801A:p.D601N,CCDC178:NM_001308126:exon16:c.G1801A:p.D601N,CCDC178:NM_198995:exon17:c.G1801A:p.D601N 1. 0.98 1. 1. 1. 1. 0.9987 0.9859 0.9996 1 1 1.0000 0.9989 0.9999 1. 0.99 1. 0.86 0.97 rs466113 . . . . . . . . . . . . . 0.232 0.183 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 2.52 0.231 T 1.36 0.014 N 0.016 0.013 -1.032 0.197 T 0.000 0.000 T . . . 1.115 0.201 11.30 0.565 0.054 0.013 0.045 N c -1.627 -1.574 0.000 0.046 0.487 0.133 0 1.85 0.243 0.215 0.172 -0.716 0.037 0.004 0.165 0.000 0.016 1.575 0.024 . . . 0.9991 0.9866 0.9996 1 1 1 1.0000 1 1.0000 0.9967 0.9884 1 1 1 1 1 1 hom 2373.01 76 18 30804756 . C T 2373.01 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;QD=31.22;VQSLOD=9.5700;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2406,187,0 18 30804758 30804758 A C exonic CCDC178 nonsynonymous SNV CCDC178:NM_001105528:exon16:c.T1799G:p.L600R,CCDC178:NM_001308126:exon16:c.T1799G:p.L600R,CCDC178:NM_198995:exon17:c.T1799G:p.L600R 0.16 0.35 0.1 0.11 0.11 0.065 0.1083 0.3127 0.0738 0.1175 0.0796 0.0947 0.0911 0.0656 0.16 0.29 0.096 . 0.082 rs457896 COSM1388465;COSM1388466 1(large_intestine) . . . . . . . . . . . 0.006 0.654 D 0.799 0.429 P 0.295 0.391 B . . . 1 0.090 P 1.445 0.365 L 2.25 0.296 T -1.28 0.377 N 0.092 0.215 -0.965 0.383 T 0.000 0.000 T . . . 2.746 0.391 21.1 0.560 0.053 0.023 0.065 N c -0.996 -1.177 0.000 0.068 0.487 0.133 0 -3.98 0.038 0.110 0.152 -0.139 0.110 0.000 0.063 0.000 0.016 7.184 0.248 . ENSG00000166960.12 Adipose_Subcutaneous 0.1041 0.3133 0.0762 0.1504 0.1138 0.0797 0.0932 0.0964 0.0646 0.1625 0.3295 0.0801 0.1225 0.1218 0.0854 0.0965 0.1090 het 1143.11 76 18 30804758 . A C 1143.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.454;DP=76;Dels=0.00;FS=10.414;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=-0.016;QD=15.04;ReadPosRankSum=1.416;VQSLOD=3.6999;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,42:76:99:1173,0,887 18 30846895 30846895 A T exonic CCDC178 nonsynonymous SNV CCDC178:NM_001105528:exon13:c.T1394A:p.V465E,CCDC178:NM_001308126:exon13:c.T1394A:p.V465E,CCDC178:NM_198995:exon14:c.T1394A:p.V465E 0.93 0.85 0.95 1. 0.92 0.99 0.9398 0.8574 0.9573 0.9999 0.9398 0.9318 0.9408 0.9798 0.9 0.86 0.93 0.88 0.25 rs9965081 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.245 0.008 N 0.93 0.441 T 2.51 0.004 N 0.119 0.213 -0.995 0.312 T 0.000 0.000 T . . . -0.926 0.035 0.023 0.547 0.051 0.001 0.005 N c -1.715 -1.663 0.000 0.029 0.487 0.133 0 -0.968 0.097 -1.099 0.034 -0.798 0.032 0.000 0.063 0.000 0.016 4.267 0.101 . . . 0.9384 0.8567 0.9507 0.8881 0.9999 0.9401 0.9315 0.9358 0.9792 0.9124 0.8476 0.9533 0.8940 0.9994 0.9355 0.9325 0.9274 hom 385.98 13 18 30846895 . A T 385.98 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=29.69;VQSLOD=8.2771;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:33.10:419,33,0 18 31320229 31320229 A G exonic ASXL3 nonsynonymous SNV ASXL3:NM_030632:exon11:c.A2861G:p.N954S 0.7 0.81 0.69 0.9 0.52 0.55 0.6029 0.7890 0.7818 0.9087 0.5606 0.5181 0.5665 0.5671 0.6 0.78 0.52 0.63 . rs2282632 COSM5941404;COSM5941405 1(skin) . . . . . . . . . . . 0.063 0.367 T 0.003 0.102 B 0.002 0.063 B 0.273 0.038 N 0.997 0.227 P 0.805 0.203 L 0.81 0.485 T -0.73 0.206 N 0.047 0.028 -0.979 0.353 T 0.000 0.000 T . . . -0.127 0.082 1.539 0.966 0.299 0.663 0.328 D c -0.615 -0.470 0.019 0.131 0.487 0.133 0 0.361 0.153 0.411 0.207 1.199 0.960 0.996 0.391 1.000 0.888 5.884 0.180 . . . 0.6016 0.7866 0.7599 0.5470 0.9114 0.5648 0.5053 0.5739 0.5597 0.6158 0.7655 0.7321 0.5695 0.8995 0.5697 0.5076 0.5510 het 404.96 34 18 31320229 . A G 404.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.595;DP=34;Dels=0.00;FS=1.456;HRun=0;HaplotypeScore=2.9633;MQ=58.34;MQ0=0;MQRankSum=0.451;QD=11.91;ReadPosRankSum=0.035;VQSLOD=6.0221;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,15:34:99:435,0,561 18 31324934 31324934 A G exonic ASXL3 nonsynonymous SNV ASXL3:NM_030632:exon12:c.A5122G:p.M1708V 0.68 0.74 0.68 0.9 0.52 0.54 0.5863 0.7359 0.7764 0.9062 0.5297 0.5052 0.5423 0.5500 0.59 0.74 0.51 0.6 . rs7232237 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.69 0.019 N 2.68 0.124 T -0.84 0.229 N 0.021 0.005 -1.037 0.181 T 0.000 0.000 T . . . -3.977 0.000 0.001 0.314 0.018 0.022 0.064 N c -1.743 -1.768 0.995 0.337 0.487 0.133 0 -7.36 0.013 -1.411 0.026 -0.660 0.040 0.000 0.063 0.000 0.016 3.295 0.065 . . . 0.5925 0.7356 0.7592 0.5535 0.9103 0.5335 0.5022 0.5703 0.5481 0.5986 0.7181 0.7380 0.5767 0.8960 0.5461 0.5055 0.5399 het 1935.40 151 18 31324934 . A G 1935.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.471;DP=151;Dels=0.00;FS=10.111;HRun=0;HaplotypeScore=6.1400;MQ=58.98;MQ0=0;MQRankSum=-0.538;QD=12.82;ReadPosRankSum=0.091;VQSLOD=4.2797;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,74:151:99:1965,0,1970 18 32917644 32917644 T C exonic ZNF24 nonsynonymous SNV ZNF24:NM_006965:exon4:c.A659G:p.N220S 0.73 0.86 0.82 0.36 0.9 0.71 0.8199 0.8621 0.7685 0.3473 0.9192 0.9000 0.8355 0.7111 0.89 0.87 0.9 0.73 0.84 rs2032729 COSM3756139 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.241 0.176 T 0.003 0.102 B 0.001 0.040 B 0.000 0.457 N 0.602 0.588 P 1.305 0.328 L 3.64 0.043 T -1.95 0.452 N 0.011 0.001 -1.020 0.238 T 0.000 0.000 T . . . -0.511 0.055 0.207 0.935 0.227 0.569 0.300 D c -0.479 -0.318 1.000 0.500 0.719 0.830 0 3.9 0.441 0.130 0.156 1.061 0.807 0.002 0.151 0.997 0.653 7.635 0.273 . . . 0.8182 0.8638 0.7743 0.8470 0.3384 0.9191 0.9044 0.8501 0.7134 0.8630 0.8580 0.8043 0.8179 0.3379 0.9180 0.9140 0.8615 hom 3029.13 97 18 32917644 . T C 3029.13 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=31.23;VQSLOD=9.7217;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:3062,235,0 18 33557466 33557466 A G exonic C18orf21 nonsynonymous SNV C18orf21:NM_001201474:exon3:c.A130G:p.T44A,C18orf21:NM_001201475:exon3:c.A130G:p.T44A,C18orf21:NM_031446:exon4:c.A394G:p.T132A 0.25 0.32 0.19 0.25 0.21 0.24 0.2347 0.3226 0.1655 0.2486 0.2235 0.2310 0.2390 0.2393 0.25 0.32 0.22 0.29 0.3 rs2276314 COSM4808752 1(pancreas) . . . . . . . . . . . 0.753 0.035 T 0.004 0.112 B 0.002 0.063 B 0.146 0.029 N 1 0.090 P 0.805 0.203 L 1.0 0.418 T -1.26 0.318 N 0.01 0.437 -0.991 0.322 T 0.000 0.000 T . . . -2.396 0.004 0.001 0.290 0.015 0.017 0.054 N c -1.800 -1.876 1.000 0.747 0.707 0.730 0 -9.47 0.005 -1.000 0.038 -0.517 0.050 0.000 0.063 0.001 0.043 13.271 0.594 . ENSG00000141428.12|ENSG00000141425.13|ENSG00000141425.13|ENSG00000267627.1|ENSG00000141428.12 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Pancreas|Testis|Testis 0.2286 0.3197 0.1736 0.2857 0.2530 0.2216 0.2231 0.2159 0.2382 0.2598 0.3232 0.2022 0.2914 0.2494 0.2244 0.2353 0.2546 het 1828.99 153 18 33557466 . A G 1828.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.980;DP=153;Dels=0.00;FS=2.848;HRun=0;HaplotypeScore=3.1570;MQ=59.40;MQ0=0;MQRankSum=-0.765;QD=11.95;ReadPosRankSum=-0.779;VQSLOD=6.0185;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,75:153:99:1859,0,1974 18 33647254 33647254 A C exonic RPRD1A synonymous SNV RPRD1A:NM_001303413:exon1:c.T114G:p.R38R,RPRD1A:NM_018170:exon1:c.T114G:p.R38R 0.94 0.86 0.95 1. 0.93 0.97 0.9407 0.8694 0.9673 1 0.9606 0.9296 0.9444 0.9712 0.91 0.87 0.93 0.85 0.64 rs1789517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9431 0.8674 0.9620 0.8877 0.9999 0.9605 0.9320 0.9417 0.9708 0.9220 0.8695 0.9403 0.8633 1 0.9614 0.9346 0.9286 het 452.88 33 18 33647254 . A C 452.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.224;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6828;MQ=57.76;MQ0=0;MQRankSum=-0.164;QD=13.72;ReadPosRankSum=-1.512;VQSLOD=4.3743;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,19:33:99:483,0,351 18 33718326 33718326 A C exonic ELP2 nonsynonymous SNV ELP2:NM_001242875:exon4:c.A382C:p.T128P,ELP2:NM_001242876:exon4:c.A382C:p.T128P,ELP2:NM_001242877:exon4:c.A382C:p.T128P,ELP2:NM_001242878:exon4:c.A382C:p.T128P,ELP2:NM_001242879:exon4:c.A382C:p.T128P,ELP2:NM_001324465:exon4:c.A382C:p.T128P,ELP2:NM_001324466:exon4:c.A382C:p.T128P,ELP2:NM_001324467:exon4:c.A382C:p.T128P,ELP2:NM_018255:exon4:c.A382C:p.T128P 0.32 0.38 0.38 0.2 0.38 0.25 0.3427 0.3715 0.4047 0.1893 0.3604 0.3724 0.2786 0.2376 0.37 0.37 0.37 0.27 0.39 rs1785934 COSM5000536;COSM5000537 2(pancreas);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.117 0.306 T 0.001 0.147 B 0.012 0.179 B 0.015 0.285 N 1.000 0.207 P 1.915 0.514 L 0.33 0.583 T -1.6 0.424 N 0.097 0.192 -0.949 0.412 T 0.000 0.000 T . . . 0.321 0.125 5.899 0.922 0.209 0.077 0.136 N c -0.742 -0.696 0.998 0.362 0.719 0.830 0 3.49 0.389 0.567 0.231 0.160 0.244 0.003 0.159 0.038 0.155 4.858 0.128 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000260552.1|ENSG00000260552.1|ENSG00000075643.5|ENSG00000134759.9|ENSG00000075643.5|ENSG00000260552.1|ENSG00000134759.9|ENSG00000260552.1|ENSG00000260552.1|ENSG00000075643.5|ENSG00000134759.9|ENSG00000141424.8|ENSG00000134759.9|ENSG00000260552.1|ENSG00000141424.8|ENSG00000134759.9|ENSG00000260552.1|ENSG00000141424.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3451 0.3757 0.3980 0.3875 0.1853 0.3631 0.3708 0.3729 0.2371 0.3649 0.3648 0.4115 0.3733 0.2011 0.3517 0.3840 0.3504 het 1340.84 101 18 33718326 . A C 1340.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.573;DP=101;Dels=0.00;FS=0.826;HRun=1;HaplotypeScore=0.0000;MQ=58.85;MQ0=0;MQRankSum=1.181;QD=13.28;ReadPosRankSum=0.208;VQSLOD=6.2571;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,47:101:99:1371,0,1411 18 33725931 33725931 G A exonic ELP2 nonsynonymous SNV ELP2:NM_001242879:exon7:c.G703A:p.V235M,ELP2:NM_001242877:exon9:c.G835A:p.V279M,ELP2:NM_001242878:exon9:c.G835A:p.V279M,ELP2:NM_001324468:exon9:c.G466A:p.V156M,ELP2:NM_001242876:exon10:c.G1030A:p.V344M,ELP2:NM_001324465:exon10:c.G913A:p.V305M,ELP2:NM_001324466:exon10:c.G1030A:p.V344M,ELP2:NM_001324467:exon10:c.G913A:p.V305M,ELP2:NM_018255:exon10:c.G913A:p.V305M,ELP2:NM_001242875:exon11:c.G1108A:p.V370M 0.32 0.39 0.38 0.2 0.38 0.25 0.3427 0.3752 0.4040 0.1889 0.3604 0.3721 0.2786 0.2377 0.37 0.37 0.37 0.27 0.35 rs1785928 COSM1388588;COSM4778248 5(prostate);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.749 0.053 T 0.0 0.026 B 0.004 0.093 B 0.000 0.460 N 1.000 0.210 P -1.435 0.006 N 0.24 0.596 T 1.44 0.011 N 0.032 0.172 -0.918 0.458 T 0.000 0.000 T . . . 0.114 0.105 3.760 0.179 0.005 0.367 0.254 N c -0.978 -0.801 0.992 0.327 0.707 0.730 0 -1.7 0.077 0.286 0.185 -0.245 0.091 0.982 0.353 0.995 0.604 7.043 0.241 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000260552.1|ENSG00000260552.1|ENSG00000075643.5|ENSG00000134759.9|ENSG00000075643.5|ENSG00000260552.1|ENSG00000134759.9|ENSG00000260552.1|ENSG00000260552.1|ENSG00000075643.5|ENSG00000134759.9|ENSG00000141424.8|ENSG00000134759.9|ENSG00000260552.1|ENSG00000141424.8|ENSG00000134759.9|ENSG00000260552.1|ENSG00000141424.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3451 0.3783 0.3976 0.3852 0.1851 0.3631 0.3708 0.3723 0.2372 0.3660 0.3675 0.4117 0.3742 0.2004 0.3518 0.3846 0.3497 het 3057.52 250 18 33725931 . G A 3057.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.159;DP=250;DS;Dels=0.00;FS=0.463;HRun=1;HaplotypeScore=4.1268;MQ=59.85;MQ0=0;MQRankSum=-0.580;QD=12.23;ReadPosRankSum=0.597;VQSLOD=5.7100;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,123:250:99:3088,0,3332 18 33750046 33750046 C T exonic ELP2 synonymous SNV ELP2:NM_001242879:exon17:c.C1887T:p.C629C,ELP2:NM_001242878:exon18:c.C1887T:p.C629C,ELP2:NM_001242876:exon19:c.C2082T:p.C694C,ELP2:NM_001242877:exon19:c.C2019T:p.C673C,ELP2:NM_001324465:exon19:c.C1965T:p.C655C,ELP2:NM_001324467:exon19:c.C1947T:p.C649C,ELP2:NM_001324468:exon19:c.C1650T:p.C550C,ELP2:NM_001324466:exon20:c.C2214T:p.C738C,ELP2:NM_018255:exon20:c.C2097T:p.C699C,ELP2:NM_001242875:exon21:c.C2292T:p.C764C 0.32 0.38 0.39 0.2 0.39 0.25 0.3507 0.3729 0.4087 0.1889 0.3627 0.3851 0.2907 0.2402 0.38 0.37 0.38 0.27 0.39 rs8299 COSM5828680;COSM1388592 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3532 0.3761 0.4036 0.4082 0.1851 0.3656 0.3837 0.3822 0.2390 0.3716 0.3668 0.4129 0.3933 0.2002 0.3544 0.3951 0.3589 het 1340.05 120 18 33750046 . C T 1340.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.919;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5891;MQ=58.24;MQ0=0;MQRankSum=2.280;QD=11.17;ReadPosRankSum=-0.379;VQSLOD=5.1998;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,52:120:99:1370,0,1777 18 33779821 33779821 C A exonic MOCOS synonymous SNV MOCOS:NM_017947:exon4:c.C475A:p.R159R 1. 0.98 1. 1. 1. 1. 0.9982 0.9810 0.9989 1 1 1.0000 0.9989 1 0.99 0.98 1. 0.98 1. rs646424 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9986 0.9799 0.9986 1 1 1 1.0000 0.9998 1.0000 0.9944 0.9805 0.9976 1 1 1 1 1 hom 3136.70 95 18 33779821 . C A 3136.70 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.30;MQ0=0;QD=33.02;VQSLOD=9.0653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3170,253,0 18 33779855 33779855 C T exonic MOCOS nonsynonymous SNV MOCOS:NM_017947:exon4:c.C509T:p.T170I 0.86 0.8 0.9 0.86 0.94 0.86 0.9134 0.8254 0.8929 0.8917 0.9019 0.9490 0.9106 0.8552 0.91 0.83 0.95 0.88 0.9 rs623053 . . . . . . . . . . . . . 0.583 0.059 T 0.001 0.067 B 0.008 0.127 B 0.147 0.181 N 1 0.090 P -0.32 0.035 N 1.81 0.252 T -0.14 0.092 N 0.06 0.044 -1.031 0.202 T 0.000 0.000 T . . . -0.755 0.042 0.054 0.045 0.000 0.062 0.121 N c -1.089 -1.019 1.000 0.747 0.706 0.609 0 0.728 0.173 1.720 0.374 -0.216 0.099 0.340 0.254 0.003 0.074 7.801 0.282 Aminotransferase class V domain|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 1 . . 0.9173 0.8247 0.8978 0.9742 0.8928 0.9086 0.9518 0.9309 0.8590 0.9108 0.8381 0.9045 0.9636 0.9006 0.9029 0.9550 0.9160 hom 2925.72 92 18 33779855 . C T 2925.72 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.619;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9795;MQ=59.02;MQ0=0;MQRankSum=-0.339;QD=31.80;ReadPosRankSum=1.017;VQSLOD=9.1302;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,91:92:99:2959,226,0 18 33779896 33779896 A G exonic MOCOS nonsynonymous SNV MOCOS:NM_017947:exon4:c.A550G:p.S184G 0.99 0.98 1. 1. 1. 1. 0.9977 0.9744 0.9988 1 1 1.0000 0.9989 1 0.99 0.97 1. 0.98 1. rs540967 . . . . . . . . . . . . . 0.971 0.020 T 0.0 0.026 B 0.0 0.013 B 0.252 0.036 N 1 0.090 P -0.57 0.023 N -2.19 0.868 D 0.05 0.064 N 0.025 0.007 -0.938 0.430 T 0.000 0.000 T . . . -2.204 0.006 0.001 0.312 0.017 0.028 0.075 N c -1.630 -1.621 1.000 0.517 0.706 0.609 0 -0.549 0.112 -0.003 0.127 -0.311 0.078 0.000 0.063 0.000 0.016 2.071 0.034 Aminotransferase class V domain|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 1 . . 0.9981 0.9727 0.9984 1 1 1 1.0000 0.9996 1.0000 0.9924 0.9734 0.9976 1 1 1 1 1 hom 3322.70 94 18 33779896 . A G 3322.70 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.01;MQ0=0;QD=35.35;VQSLOD=10.1000;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3322,259,0 18 33780020 33780020 A G exonic MOCOS nonsynonymous SNV MOCOS:NM_017947:exon4:c.A674G:p.H225R 0.99 0.98 1. 1. 1. 1. 0.9975 0.9744 0.9984 0.9990 1 0.9999 0.9989 0.9996 0.99 0.97 1. 0.98 1. rs623558 . . . . . . . . . . . . . 0.374 0.114 T 0.0 0.026 B 0.0 0.013 B 0.238 0.158 N 1 0.090 P 0 0.065 N -2.22 0.871 D -0.42 0.142 N 0.01 0.001 -0.983 0.342 T 0.000 0.000 T . . . -2.125 0.006 0.001 0.164 0.004 0.059 0.117 N c -1.735 -1.592 1.000 0.517 0.706 0.609 0 1.7 0.232 1.416 0.341 -0.704 0.037 0.362 0.256 0.000 0.016 2.923 0.054 Aminotransferase class V domain|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 1 . . 0.9979 0.9728 0.9983 1 0.9992 1.0000 0.9999 0.9996 0.9997 0.9924 0.9734 0.9976 1 1 1 1 1 hom 5601.67 197 18 33780020 . A G 5601.67 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5125;MQ=58.94;MQ0=0;QD=28.43;VQSLOD=7.7705;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,195:197:99:5600,442,0 18 33785093 33785093 G A exonic MOCOS nonsynonymous SNV MOCOS:NM_017947:exon6:c.G1072A:p.V358M 0.85 0.76 0.89 0.86 0.94 0.86 0.9096 0.8009 0.8913 0.8927 0.9017 0.9463 0.9108 0.8547 0.9 0.81 0.95 0.88 0.89 rs678560 . . . . . . . . . . . . . 0.15 0.246 T 0.002 0.090 B 0.001 0.040 B 0.014 0.287 N 1 0.090 P -0.145 0.044 N 1.57 0.293 T 0.33 0.039 N 0.03 0.011 -0.902 0.478 T 0.000 0.000 T . . . -0.721 0.044 0.064 0.584 0.058 0.033 0.082 N c -1.661 -1.780 1.000 0.747 0.706 0.609 0 -11.8 0.000 0.011 0.131 -1.250 0.015 0.000 0.063 0.069 0.175 2.444 0.042 Aminotransferase class V domain|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 ENSG00000075643.5 Cells_Transformed_fibroblasts 0.9139 0.7985 0.8950 0.9696 0.8933 0.9083 0.9492 0.9289 0.8587 0.9022 0.8102 0.9045 0.9603 0.9021 0.9029 0.9535 0.9104 hom 3579.11 118 18 33785093 . G A 3579.11 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6553;MQ=58.65;MQ0=0;QD=30.33;VQSLOD=8.5135;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3579,280,0 18 33785185 33785185 A G exonic MOCOS synonymous SNV MOCOS:NM_017947:exon6:c.A1164G:p.P388P 0.99 0.97 1. 1. 1. 1. 0.9976 0.9741 0.9988 1 1 0.9999 0.9989 0.9999 0.99 0.97 1. 0.81 1. rs667667 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9726 0.9984 1 1 1 0.9999 0.9996 0.9998 0.9924 0.9735 0.9976 1 1 1 0.9999 0.9990 hom 4610.35 156 18 33785185 . A G 4610.35 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7634;MQ=58.92;MQ0=0;QD=29.55;VQSLOD=7.4349;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4609,376,0 18 34205551 34205551 C T exonic FHOD3 synonymous SNV FHOD3:NM_001281739:exon10:c.C1035T:p.S345S,FHOD3:NM_001281740:exon10:c.C1035T:p.S345S,FHOD3:NM_025135:exon10:c.C1035T:p.S345S 0.087 0.065 0.033 0.23 0.045 0.056 0.0669 0.0823 0.0233 0.2172 0.0204 0.0594 0.0554 0.0567 0.066 0.076 0.06 0.13 0.041 rs60414347 COSM3756141 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.998 0.588 P . . . 1.25 0.365 T . . . . . . . . . . . . . . 2.410 0.351 18.89 0.862 0.158 0.312 0.241 N n 1.077 -0.005 0.991 0.324 0.707 0.730 0 0.938 0.185 -0.338 0.078 -0.343 0.071 0.241 0.245 0.962 0.444 9.548 0.383 . . . 0.0617 0.0759 0.0239 0.0814 0.2221 0.0206 0.0583 0.0552 0.0486 0.0677 0.0815 0.0263 0.08 0.2454 0.0192 0.0555 0.0418 het 1576.44 118 18 34205551 . C T 1576.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.430;DP=118;Dels=0.00;FS=13.301;HRun=0;HaplotypeScore=2.8829;MQ=59.80;MQ0=0;MQRankSum=-0.132;QD=13.36;ReadPosRankSum=-0.423;VQSLOD=4.0390;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,56:118:99:1606,0,1793 18 34273279 34273279 C G exonic FHOD3 nonsynonymous SNV FHOD3:NM_001281739:exon13:c.C1553G:p.A518G,FHOD3:NM_025135:exon14:c.C1604G:p.A535G,FHOD3:NM_001281740:exon17:c.C2129G:p.A710G 0.09 0.064 0.12 0.001 0.22 0.065 0.1358 0.0675 0.0729 0 0.2008 0.1783 0.1723 0.0937 0.14 0.073 0.18 0.076 0.16 rs61735993 . . . . . . . . . . . . . 0.057 0.408 T 0.705 0.647 P 0.197 0.706 B 0.006 0.322 N 0.797 0.588 P 2.34 0.674 M 2.01 0.213 T -1.33 0.332 N 0.047 0.028 -1.099 0.042 T 0.000 0.000 T . . . 1.318 0.223 12.36 0.995 0.678 0.938 0.589 D c 0.265 0.260 1.000 0.747 0.707 0.730 0 4.69 0.584 5.337 0.655 0.883 0.387 1.000 0.715 0.073 0.177 11.351 0.486 . ENSG00000134779.10|ENSG00000134779.10 Adipose_Subcutaneous|Brain_Frontal_Cortex_BA9 0.1340 0.0661 0.0773 0.1421 0.0003 0.1923 0.1802 0.1418 0.0910 0.1384 0.0765 0.0919 0.1391 0.0006 0.1993 0.1770 0.15 het 710.81 42 18 34273279 . C G 710.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.071;DP=42;Dels=0.00;FS=3.590;HRun=1;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=0.419;QD=16.92;ReadPosRankSum=0.394;VQSLOD=4.9509;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,24:42:99:741,0,504 18 34647053 34647053 A G exonic KIAA1328 synonymous SNV KIAA1328:NM_001322327:exon6:c.A453G:p.L151L,KIAA1328:NM_020776:exon7:c.A777G:p.L259L 0.0002 . . . 0.001 . 0.0005 0.0003 0.0003 0 0 0.0008 0.0011 0 0.0008 0.0003 0.001 . . rs200193060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0005 0.0003 0.0003 0.0001 0 4.485e-05 0.0009 0.0004 0 0.0006 0 0.0012 0 0 0 0.0011 0.0010 het 1190.50 78 18 34647053 . A G 1190.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.823;DP=78;Dels=0.00;FS=8.594;HRun=1;HaplotypeScore=0.7887;MQ=59.70;MQ0=0;MQRankSum=0.240;QD=15.26;ReadPosRankSum=0.901;VQSLOD=2.9285;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,41:78:99:1220,0,1031 18 34647322 34647322 G T exonic KIAA1328 nonsynonymous SNV KIAA1328:NM_001322327:exon6:c.G722T:p.G241V,KIAA1328:NM_020776:exon7:c.G1046T:p.G349V 0.015 . 0.017 0.001 0.027 0.034 0.0264 0.0053 0.0067 0.0001 0.0346 0.0339 0.0363 0.0323 . . . . . rs72890602 . . . . . . . . . . . . . 0.11 0.291 T 0.418 0.457 B 0.032 0.415 B 0.667 0.060 N 1.000 0.090 N 0.345 0.112 N 0.97 0.425 T -1.8 0.424 N 0.175 0.227 -1.042 0.166 T 0.058 0.242 T . . . -0.369 0.064 0.460 0.785 0.119 0.086 0.143 N c -0.873 -0.941 0.000 0.029 0.615 0.372 0 -2.29 0.064 0.154 0.160 -0.248 0.090 0.000 0.063 0.001 0.043 2.810 0.051 . . . 0.0258 0.0050 0.0081 0.0344 0.0001 0.0319 0.0341 0.0234 0.0327 0.0233 0.0089 0.0131 0.0331 0 0.0309 0.0327 0.0255 het 1087.70 74 18 34647322 . G T 1087.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.385;DP=74;Dels=0.00;FS=1.505;HRun=1;HaplotypeScore=2.7535;MQ=59.38;MQ0=0;MQRankSum=0.351;QD=14.70;ReadPosRankSum=-0.016;VQSLOD=6.3585;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,38:74:99:1118,0,1081 18 34647323 34647323 T G exonic KIAA1328 synonymous SNV KIAA1328:NM_001322327:exon6:c.T723G:p.G241G,KIAA1328:NM_020776:exon7:c.T1047G:p.G349G 0.088 0.016 0.18 0.001 0.21 0.088 0.1485 0.0413 0.1690 0.0002 0.1718 0.1858 0.1936 0.1121 . . . 0.054 . rs3747896 COSM4275094;COSM4275092;COSM4275093 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1501 0.0392 0.1752 0.2126 0.0003 0.1642 0.1824 0.1629 0.1121 0.1339 0.0496 0.1902 0.2219 0.0006 0.1656 0.1818 0.1823 het 1048.39 73 18 34647323 . T G 1048.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.838;DP=73;Dels=0.00;FS=1.460;HRun=4;HaplotypeScore=2.7535;MQ=59.37;MQ0=0;MQRankSum=0.910;QD=14.36;ReadPosRankSum=0.006;VQSLOD=6.3263;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,37:73:99:1078,0,1072 18 34850846 34850846 G A exonic CELF4 synonymous SNV CELF4:NM_001025087:exon8:c.C981T:p.A327A,CELF4:NM_001025088:exon8:c.C978T:p.A326A,CELF4:NM_001025089:exon8:c.C954T:p.A318A,CELF4:NM_001330603:exon8:c.C981T:p.A327A,CELF4:NM_020180:exon8:c.C984T:p.A328A 0.22 0.13 0.17 0.23 0.35 0.21 0.2975 0.1795 0.1493 0.2451 0.3328 0.3626 0.2928 0.2208 0.31 0.19 0.37 0.22 0.32 rs1443638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2881 0.1690 0.1548 0.4098 0.2413 0.3196 0.3543 0.3189 0.2138 0.2913 0.1812 0.1842 0.4007 0.2318 0.3286 0.3555 0.3143 het 639.24 39 18 34850846 . G A 639.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.968;DP=39;Dels=0.00;FS=2.090;HRun=0;HaplotypeScore=0.9958;MQ=59.04;MQ0=0;MQRankSum=-0.836;QD=16.39;ReadPosRankSum=-1.374;VQSLOD=5.7259;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,22:39:99:669,0,493 18 40323497 40323497 G T exonic RIT2 synonymous SNV RIT2:NM_002930:exon5:c.C615A:p.L205L 0.59 0.82 0.6 0.7 0.35 0.4 0.4541 0.7588 0.5715 0.7215 0.3129 0.3727 0.4117 0.4277 0.49 0.75 0.36 0.65 0.42 rs1804730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4490 0.7688 0.5683 0.4105 0.7188 0.3005 0.3685 0.4214 0.4244 0.4908 0.7470 0.5718 0.4238 0.7207 0.3099 0.3625 0.3949 hom 6861.64 237 18 40323497 . G T 6861.64 Mask AC=2;AF=1.00;AN=2;DP=237;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.9074;MQ=59.40;MQ0=0;QD=28.95;VQSLOD=7.6562;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:6861,521,0 18 42532606 42532606 G A exonic SETBP1 nonsynonymous SNV SETBP1:NM_015559:exon4:c.G3301A:p.V1101I 0.12 0.036 0.086 0.27 0.13 0.12 0.1212 0.0487 0.0839 0.2864 0.1354 0.1254 0.1355 0.0833 0.1 0.057 0.12 0.087 0.17 rs3744825 COSM148423 1(haematopoietic_and_lymphoid_tissue);1(stomach);6(soft_tissue);1(large_intestine) Benign|Benign not_specified|Schinzel-Giedion_syndrome RCV000147459.1|RCV000395670.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C1849294:269150:18899000 . . . . . . 0.135 0.262 T 0.052 0.210 B 0.014 0.158 B 0.037 0.244 N 1.000 0.090 P 0.345 0.112 N -0.33 0.683 T 0.39 0.035 N 0.074 0.064 -1.031 0.200 T 0.000 0.000 T . . . -0.498 0.056 0.222 0.868 0.162 0.461 0.275 N c -0.791 -0.691 0.005 0.107 0.615 0.372 0 -0.533 0.112 1.231 0.320 1.048 0.713 0.869 0.305 0.834 0.348 6.388 0.206 . . . 0.1225 0.0500 0.0805 0.1409 0.2821 0.1395 0.1261 0.1229 0.0840 0.1094 0.0489 0.0813 0.1192 0.2636 0.1322 0.1226 0.1314 het 1013.92 112 18 42532606 . G A 1013.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.337;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7747;MQ=58.37;MQ0=0;MQRankSum=0.754;QD=9.05;ReadPosRankSum=-1.483;VQSLOD=3.5509;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,46:112:99:1044,0,1753 18 42533130 42533130 A G exonic SETBP1 synonymous SNV SETBP1:NM_015559:exon4:c.A3825G:p.S1275S 0.91 0.99 0.95 0.94 0.85 0.78 0.8775 0.9757 0.9628 0.9578 0.8770 0.8584 0.8720 0.7914 0.9 0.97 0.86 0.91 0.8 rs8096662 . . Uncertain significance\x2cBenign|Benign\x2cUncertain significance Schinzel-Giedion_syndrome\x2cnot_specified|Schinzel-Giedion_syndrome\x2cSchinzel-Giedion_syndrome RCV000147461.1\x2cRCV000147462.1|RCV000324790.1\x2cRCV000147463.1 MedGen:OMIM:SNOMED_CT\x2cMedGen|MedGen:OMIM:SNOMED_CT\x2cMedGen:OMIM:SNOMED_CT C1849294:269150:18899000\x2cCN169374|C1849294:269150:18899000\x2cC1849294:269150:18899000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8812 0.9773 0.9586 0.8896 0.9545 0.8787 0.8569 0.8962 0.7920 0.9062 0.9722 0.9427 0.8775 0.9560 0.8886 0.8676 0.8663 hom 2544.63 75 18 42533130 . A G 2544.63 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.8169;MQ=56.78;MQ0=0;QD=33.93;VQSLOD=3.5693;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,74:75:99:2578,217,0 18 43206985 43206985 A G exonic SLC14A2 nonsynonymous SNV SLC14A2:NM_007163:exon4:c.A394G:p.I132V,SLC14A2:NM_001242692:exon5:c.A394G:p.I132V 0.89 0.87 0.88 0.85 0.93 0.93 0.9136 0.8772 0.8272 0.8580 0.8402 0.9431 0.9075 0.9368 0.93 0.88 0.95 0.89 0.97 rs1484873 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.935 0.000 N 0.88 0.460 T 0.28 0.042 N 0.068 0.055 -0.951 0.408 T 0.000 0.000 T . . . 0.887 0.179 9.990 0.864 0.160 0.127 0.172 N c -0.764 -0.428 1.000 0.747 0.693 0.562 0 5.22 0.722 7.429 0.793 0.138 0.222 1.000 0.715 0.989 0.536 14.165 0.649 Ammonium/urea transporter . . 0.9100 0.8765 0.8320 0.9730 0.8625 0.8426 0.9453 0.9203 0.9376 0.8996 0.8785 0.8577 0.9536 0.8685 0.8446 0.9291 0.9020 hom 7282.61 248 18 43206985 . A G 7282.61 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.129;DP=248;DS;Dels=0.00;FS=3.269;HRun=0;HaplotypeScore=2.7754;MQ=59.44;MQ0=0;MQRankSum=-0.302;QD=29.37;ReadPosRankSum=1.648;VQSLOD=4.0324;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,247:248:99:7250,570,0 18 43246156 43246156 G A exonic SLC14A2 nonsynonymous SNV SLC14A2:NM_007163:exon12:c.G1529A:p.R510Q,SLC14A2:NM_001242692:exon13:c.G1529A:p.R510Q 0.37 0.29 0.47 0.34 0.43 0.39 0.4424 0.3175 0.5362 0.3210 0.4784 0.4586 0.4205 0.4400 0.41 0.33 0.45 0.37 0.41 rs9960464 COSM148424 1(stomach);1(prostate);2(large_intestine) . . . . . . . . . . . 0.741 0.037 T 0.0 0.026 B 0.0 0.013 B 0.386 0.044 N 1 0.090 P -1.935 0.002 N 1.45 0.325 T -0.12 0.088 N 0.037 0.017 -0.954 0.404 T 0.000 0.000 T . . . -0.180 0.078 1.207 0.838 0.144 0.003 0.016 N c -1.874 -1.894 1.000 0.747 0.487 0.133 0 -11.7 0.000 -0.755 0.048 -0.757 0.034 0.000 0.063 0.000 0.016 6.734 0.224 . ENSG00000141469.12 Adipose_Subcutaneous 0.4472 0.3143 0.5311 0.3842 0.3227 0.4862 0.4591 0.4511 0.4392 0.4250 0.3278 0.4832 0.39 0.3146 0.4888 0.4732 0.4653 het 1607.15 147 18 43246156 . G A 1607.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.147;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8216;MQ=59.56;MQ0=0;MQRankSum=-0.639;QD=10.93;ReadPosRankSum=0.389;VQSLOD=6.5062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,64:147:99:1637,0,2238 18 43247001 43247001 C G exonic SLC14A2 synonymous SNV SLC14A2:NM_007163:exon13:c.C1659G:p.V553V,SLC14A2:NM_001242692:exon14:c.C1659G:p.V553V 0.65 0.62 0.75 0.43 0.8 0.7 0.7684 0.6343 0.7878 0.4042 0.8041 0.8338 0.7808 0.7492 0.76 0.63 0.83 0.61 0.77 rs2156609 COSM148425 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7696 0.6246 0.7808 0.8626 0.4053 0.8075 0.8305 0.7969 0.7502 0.7520 0.6367 0.7835 0.8367 0.4012 0.8123 0.8365 0.7916 het 1394.07 96 18 43247001 . C G 1394.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.096;DP=96;Dels=0.00;FS=0.897;HRun=0;HaplotypeScore=0.6651;MQ=59.13;MQ0=0;MQRankSum=0.880;QD=14.52;ReadPosRankSum=-0.557;VQSLOD=6.2229;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,49:96:99:1424,0,1239 18 43252883 43252883 G A exonic SLC14A2 nonsynonymous SNV SLC14A2:NM_007163:exon17:c.G2248A:p.V750I,SLC14A2:NM_001242692:exon18:c.G2248A:p.V750I 0.17 0.066 0.17 0.31 0.16 0.18 0.1652 0.0881 0.1835 0.2851 0.1391 0.1527 0.1770 0.1988 0.13 0.088 0.15 0.18 0.12 rs1123617 COSM4985158 6(soft_tissue) . . . . . . . . . . . 0.099 0.306 T 0.889 0.469 P 0.459 0.446 P 0.035 0.247 N 0.089 0.364 P 1.52 0.385 L 0.71 0.512 T -0.55 0.168 N 0.055 0.198 -1.057 0.124 T 0.000 0.000 T . . . 2.843 0.402 21.6 0.988 0.454 0.950 0.627 D c 0.112 0.125 1.000 0.747 0.487 0.133 0 4.01 0.457 4.006 0.566 -0.754 0.034 1.000 0.715 0.344 0.245 11.608 0.501 Ammonium/urea transporter . . 0.1655 0.0850 0.1797 0.1680 0.2832 0.1371 0.1516 0.1672 0.1936 0.1388 0.0814 0.1818 0.1833 0.2996 0.1272 0.1540 0.1439 het 2714.72 199 18 43252883 . G A 2714.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.689;DP=199;Dels=0.00;FS=4.254;HRun=0;HaplotypeScore=8.1717;MQ=59.41;MQ0=0;MQRankSum=1.243;QD=13.64;ReadPosRankSum=-0.061;VQSLOD=4.6330;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,104:199:99:2745,0,2397 18 43262359 43262359 G A exonic SLC14A2 nonsynonymous SNV SLC14A2:NM_007163:exon20:c.G2638A:p.A880T,SLC14A2:NM_001242692:exon21:c.G2638A:p.A880T 0.43 0.4 0.38 0.39 0.44 0.53 0.4362 0.3890 0.3646 0.4088 0.4395 0.4432 0.4504 0.5003 0.43 0.39 0.45 0.39 0.52 rs3745009 COSM1130064 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);2(prostate) . . . . . . . . . . . 0.41 0.101 T 0.017 0.163 B 0.024 0.190 B 0.001 0.395 N 0.495 0.334 P 2.135 0.597 M 0.72 0.510 T -0.8 0.221 N 0.149 0.176 -0.940 0.427 T 0.000 0.000 T . . . 3.478 0.476 23.1 0.994 0.628 0.869 0.459 D c -0.097 0.071 1.000 0.431 0.487 0.133 0 5.14 0.699 2.091 0.411 1.048 0.713 0.974 0.344 0.660 0.300 18.217 0.898 Ammonium/urea transporter ENSG00000141469.12 Cells_EBV-transformed_lymphocytes 0.4368 0.3856 0.3718 0.4856 0.4072 0.4457 0.4448 0.4338 0.4994 0.4281 0.3796 0.3798 0.4801 0.4011 0.4335 0.4571 0.4644 hom 7966.15 250 18 43262359 . G A 7966.15 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0146;MQ=58.74;MQ0=0;QD=31.86;VQSLOD=4.7128;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,246:250:99:7937,671,0 18 43316538 43316538 A G exonic SLC14A1 synonymous SNV SLC14A1:NM_001308279:exon4:c.A192G:p.P64P,SLC14A1:NM_001146037:exon5:c.A756G:p.P252P,SLC14A1:NM_001308278:exon5:c.A273G:p.P91P,SLC14A1:NM_015865:exon6:c.A588G:p.P196P,SLC14A1:NM_001128588:exon7:c.A756G:p.P252P,SLC14A1:NM_001146036:exon7:c.A588G:p.P196P 0.71 0.65 0.75 0.93 0.59 0.68 0.6357 0.6524 0.7800 0.9288 0.5980 0.5611 0.6134 0.6883 0.58 0.63 0.55 0.63 0.51 rs2298718 COSM1480332;COSM438130 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6379 0.6541 0.7647 0.5310 0.9298 0.6008 0.5580 0.6083 0.6837 0.6154 0.6474 0.7315 0.5563 0.9272 0.5850 0.5642 0.6281 het 1823.58 169 18 43316538 . A G 1823.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.668;DP=169;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=7.4161;MQ=59.15;MQ0=0;MQRankSum=-0.711;QD=10.79;ReadPosRankSum=-0.914;VQSLOD=4.4069;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:95,74:169:99:1854,0,2600 18 43319519 43319519 G A exonic SLC14A1 nonsynonymous SNV SLC14A1:NM_001308279:exon6:c.G442A:p.D148N,SLC14A1:NM_001146037:exon7:c.G1006A:p.D336N,SLC14A1:NM_001308278:exon7:c.G523A:p.D175N,SLC14A1:NM_015865:exon8:c.G838A:p.D280N,SLC14A1:NM_001128588:exon9:c.G1006A:p.D336N,SLC14A1:NM_001146036:exon9:c.G838A:p.D280N 0.41 0.23 0.52 0.53 0.5 0.37 0.4695 0.2685 0.5252 0.5368 0.4935 0.4912 0.4813 0.4243 0.41 0.27 0.49 0.34 0.43 rs1058396 COSM3736180;COSM3736181 1(skin);1(upper_aerodigestive_tract);1(large_intestine) Benign KIDD_BLOOD_POLYMORPHISM_Jk(a)/Jk(b) RCV000019290.2 . . . . . . . . 0.592 0.073 T 0.002 0.090 B 0.002 0.127 B 0.026 0.259 N 1.000 0.412 P 0.72 0.188 N 0.74 0.505 T -0.22 0.105 N 0.088 0.112 -0.951 0.409 T 0.000 0.000 T . . . 0.736 0.164 9.063 0.743 0.103 0.095 0.151 N c -1.161 -1.180 1.000 0.747 0.598 0.340 0 -7.56 0.012 0.723 0.254 -0.272 0.086 0.021 0.196 0.839 0.350 13.088 0.584 Ammonium/urea transporter ENSG00000152223.8 Nerve_Tibial 0.4722 0.2665 0.5166 0.4349 0.5350 0.4902 0.4901 0.4756 0.4240 0.4224 0.2634 0.4773 0.4636 0.5156 0.4774 0.4834 0.4969 het 1953.79 144 18 43319519 . G A 1953.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.763;DP=144;Dels=0.00;FS=3.930;HRun=1;HaplotypeScore=2.9874;MQ=59.36;MQ0=0;MQRankSum=1.236;QD=13.57;ReadPosRankSum=-1.488;VQSLOD=5.6487;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,75:144:99:1984,0,1874 18 43329841 43329841 T C exonic SLC14A1 synonymous SNV SLC14A1:NM_001308279:exon8:c.T699C:p.S233S,SLC14A1:NM_001146037:exon9:c.T1263C:p.S421S,SLC14A1:NM_001308278:exon9:c.T780C:p.S260S,SLC14A1:NM_015865:exon10:c.T1095C:p.S365S,SLC14A1:NM_001128588:exon11:c.T1263C:p.S421S,SLC14A1:NM_001146036:exon11:c.T1095C:p.S365S 0.0028 . 0.0029 . 0.006 0.0061 0.0045 0.0011 0.0031 0 0.0020 0.0060 0.0110 0.0050 0.0046 0.0011 0.0064 0.022 0.025 rs28898897 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0046 0.0005 0.0036 0.0080 0 0.0017 0.0065 0.0069 0.0041 0.0033 0.0008 0.0048 0.0132 0 0.0026 0.0046 0.0082 het 1675.29 128 18 43329841 . T C 1675.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.135;DP=128;Dels=0.00;FS=0.656;HRun=0;HaplotypeScore=2.7227;MQ=59.66;MQ0=0;MQRankSum=-0.400;QD=13.09;ReadPosRankSum=-1.003;VQSLOD=6.3693;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,58:128:99:1705,0,1845 18 43497710 43497710 A G exonic EPG5 nonsynonymous SNV EPG5:NM_020964:exon17:c.T3173C:p.V1058A 0.43 0.26 0.42 0.57 0.55 0.38 0.4909 0.3003 0.3317 0.5783 0.5307 0.5555 0.5100 0.3917 0.48 0.29 0.57 0.41 0.57 rs3744998 . . Benign not_specified RCV000454737.1 MedGen CN169374 . . . . . . 0.004 0.654 D 0.884 0.466 P 0.636 0.501 P 0.000 0.559 D 0.000 0.588 P 2.095 0.583 M 2.48 0.147 T -2.49 0.542 N 0.33 0.391 -0.921 0.454 T 0.000 0.000 T . . . 5.261 0.711 25.7 0.999 0.936 0.977 0.767 D c 0.517 0.522 1.000 0.489 0.707 0.730 0 5.4 0.779 6.647 0.740 1.199 0.960 1.000 0.715 0.996 0.625 15.712 0.773 . ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8|ENSG00000152223.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.4896 0.3004 0.3393 0.5327 0.5805 0.5366 0.5604 0.4854 0.3927 0.4805 0.3077 0.3947 0.5232 0.6136 0.5375 0.5560 0.4980 het 1960.07 155 18 43497710 . A G 1960.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.208;DP=155;DS;Dels=0.00;FS=1.400;HRun=0;HaplotypeScore=1.7870;MQ=59.52;MQ0=0;MQRankSum=0.471;QD=12.65;ReadPosRankSum=-0.377;VQSLOD=6.9076;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,67:155:99:1990,0,2358 18 43534824 43534824 T C exonic EPG5 nonsynonymous SNV EPG5:NM_020964:exon2:c.A544G:p.K182E 0.11 0.25 0.069 0.027 0.082 0.083 0.0874 0.2211 0.0800 0.0217 0.0475 0.0818 0.0635 0.0880 0.12 0.2 0.083 0.13 0.11 rs59422275 COSM3756144 1(large_intestine) Benign not_specified RCV000455380.1 MedGen CN169374 . . . . . . 0.509 0.075 T 0.0 0.067 B 0.002 0.063 B 0.078 0.023 N 1 0.090 P 0.205 0.094 N 2.84 0.107 T -0.24 0.108 N 0.089 0.086 -0.967 0.379 T 0.000 0.000 T . . . -1.389 0.020 0.003 0.916 0.203 0.128 0.173 N c -1.183 -1.108 1.000 0.441 0.490 0.173 0 2.73 0.311 1.099 0.304 0.144 0.231 0.002 0.151 0.004 0.083 6.386 0.206 . ENSG00000152223.8 Cells_Transformed_fibroblasts 0.0847 0.2200 0.0773 0.1245 0.0237 0.0490 0.0805 0.0908 0.0874 0.1134 0.2185 0.0752 0.1490 0.0186 0.0392 0.0833 0.0804 het 1563.51 105 18 43534824 . T C 1563.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.905;DP=105;Dels=0.00;FS=1.617;HRun=0;HaplotypeScore=5.6765;MQ=58.89;MQ0=0;MQRankSum=0.593;QD=14.89;ReadPosRankSum=0.659;VQSLOD=4.9166;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,63:105:99:1594,0,1122 18 43833701 43833701 - CTG exonic C18orf25 nonframeshift insertion C18orf25:NM_001008239:exon3:c.754_755insCTG:p.S252_G253insA,C18orf25:NM_145055:exon4:c.937_938insCTG:p.S313_G314insA 0.69 0.74 0.71 0.6 0.75 0.65 0.7156 0.7387 0.6412 0.5756 0.8088 0.7479 0.7322 0.6583 . . . 0.022 . rs397790301 COSM4603431 19(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7171 0.7382 0.6542 0.7763 0.5738 0.8102 0.7460 0.7379 0.6599 0.7383 0.7262 0.7022 0.7781 0.5809 0.8072 0.7458 0.7582 hom 11570.56 178 18 43833701 . T TCTG 11570.56 Mask AC=2;AF=1.00;AN=2;DP=178;FS=0.000;HRun=0;HaplotypeScore=463.9778;MQ=54.28;MQ0=0;QD=65.00;set=variant2 GT:AD:DP:GQ:PL 1/1:10,165:178:99:11571,518,0 18 44015315 44015315 A G exonic RNF165 synonymous SNV RNF165:NM_152470:exon3:c.A441G:p.Q147Q 0.006 0.0008 0.016 . 0.016 0.002 0.0058 0.0017 0.0025 0.0001 0.0153 0.0078 0.0077 0.0019 0.0078 0.002 0.011 . 0.0082 rs139779598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0061 0.0012 0.0029 0.0011 0.0002 0.0139 0.0088 0.0033 0.0020 0.0064 0.0024 0.0084 0.0033 0 0.0109 0.0083 0.0071 het 1449.75 110 18 44015315 . A G 1449.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.798;DP=110;Dels=0.00;FS=5.849;HRun=0;HaplotypeScore=2.7145;MQ=59.43;MQ0=0;MQRankSum=1.958;QD=13.18;ReadPosRankSum=-0.715;VQSLOD=3.2170;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,54:110:99:1480,0,1468 18 44560429 44560429 C A exonic ELOA2 nonsynonymous SNV ELOA2:NM_016427:exon1:c.G1207T:p.A403S 0.6 0.57 0.68 0.65 0.53 0.59 0.5710 0.5873 0.7199 0.6537 0.5436 0.5315 0.5749 0.5833 0.55 0.59 0.53 0.51 0.56 rs892586 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.979 0.078 N 1.000 0.090 P -1.355 0.007 N 3.37 0.059 T 0.71 0.021 N 0.025 0.007 -0.960 0.393 T 0.000 0.000 T . . . -1.809 0.011 0.002 0.502 0.043 0.000 0.002 N c -1.792 -1.787 0.000 0.068 0.403 0.052 0 -0.254 0.123 -1.114 0.034 -0.825 0.030 0.000 0.063 0.000 0.016 2.906 0.053 . ENSG00000167220.7|ENSG00000078043.11|ENSG00000167216.12 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis 0.5754 0.5855 0.7096 0.5038 0.6453 0.5443 0.5355 0.5592 0.5775 0.5674 0.5810 0.6859 0.5497 0.6396 0.5309 0.5544 0.5622 het 1490.80 131 18 44560429 . C A 1490.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.623;DP=131;Dels=0.00;FS=0.649;HRun=1;HaplotypeScore=3.2378;MQ=58.42;MQ0=0;MQRankSum=0.308;QD=11.38;ReadPosRankSum=-0.554;VQSLOD=6.0269;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,58:131:99:1521,0,1750 18 44560875 44560875 C A exonic ELOA2 nonsynonymous SNV ELOA2:NM_016427:exon1:c.G761T:p.C254F 0.53 0.43 0.62 0.64 0.44 0.58 0.5058 0.4455 0.6709 0.6472 0.4643 0.4561 0.5088 0.5715 0.45 0.44 0.45 0.46 0.36 rs2010834 COSM4130996 2(pancreas);1(thyroid) . . . . . . . . . . . 0.715 0.040 T 0.115 0.249 B 0.03 0.205 B 0.040 0.019 U 1 0.090 P 0 0.065 N 3.31 0.063 T -0.95 0.253 N 0.093 0.092 -0.936 0.433 T 0.000 0.000 T . . . -1.398 0.019 0.003 0.445 0.034 0.004 0.019 N c -1.959 -2.065 0.787 0.239 0.428 0.059 0 -3.04 0.051 -1.835 0.018 -1.212 0.016 0.000 0.063 0.000 0.016 2.302 0.039 . ENSG00000167220.7|ENSG00000267724.1|ENSG00000167216.12 Muscle_Skeletal|Muscle_Skeletal|Testis 0.5120 0.4454 0.6620 0.4597 0.6381 0.4682 0.4565 0.4874 0.5651 0.4758 0.4466 0.6384 0.5 0.6310 0.4539 0.4705 0.4908 het 1352.33 103 18 44560875 . C A 1352.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.485;DP=103;Dels=0.00;FS=1.724;HRun=1;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;MQRankSum=0.188;QD=13.13;ReadPosRankSum=-0.412;VQSLOD=6.7500;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,52:103:99:1382,0,1561 18 44561100 44561100 C G exonic ELOA2 nonsynonymous SNV ELOA2:NM_016427:exon1:c.G536C:p.R179P 0.56 0.46 0.66 0.65 0.53 0.59 0.5614 0.4798 0.7129 0.6567 0.5425 0.5307 0.5692 0.5829 0.51 0.48 0.52 0.45 0.44 rs2571028 COSM3756151 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.353 0.122 T 0.0 0.026 B 0.0 0.013 B 0.004 0.010 N 1 0.090 P 0 0.065 N 3.24 0.069 T 1.37 0.009 N 0.007 0.000 -0.965 0.381 T 0.000 0.000 T . . . -0.478 0.057 0.249 0.578 0.057 0.001 0.006 N c -2.159 -2.217 0.995 0.337 0.403 0.052 0 -5.18 0.026 -0.798 0.046 -3.651 0.001 0.000 0.063 0.000 0.016 2.630 0.046 . ENSG00000167220.7 Muscle_Skeletal 0.5672 0.4775 0.7031 0.4974 0.6458 0.5439 0.5347 0.5524 0.5774 0.5377 0.4801 0.6763 0.5433 0.6388 0.5302 0.5530 0.5583 het 751.77 64 18 44561100 . C G 751.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.712;DP=64;Dels=0.00;FS=1.020;HRun=2;HaplotypeScore=3.9540;MQ=56.46;MQ0=0;MQRankSum=0.571;QD=11.75;ReadPosRankSum=-1.739;VQSLOD=2.6658;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,31:64:99:782,0,866 18 44585955 44585955 G A exonic KATNAL2 nonsynonymous SNV KATNAL2:NM_031303:exon5:c.G263A:p.S88N 0.44 0.35 0.56 0.48 0.37 0.49 0.4236 0.3562 0.5566 0.4936 0.3542 0.3989 0.4130 0.4643 0.38 0.35 0.4 0.37 0.42 rs7233515 COSM4130997 1(thyroid) . . . . . . . . . . . 0.224 0.187 T 0.001 0.067 B 0.003 0.080 B 0.976 0.081 N 1 0.090 P 1.015 0.255 L 0.83 0.941 T -0.51 0.160 N 0.038 0.018 -1.049 0.147 T 0.000 0.000 T . . . -1.027 0.031 0.014 0.840 0.145 0.012 0.043 N c -1.391 -1.433 0.008 0.117 0.693 0.558 0 -4.83 0.029 -0.903 0.042 0.127 0.214 0.000 0.063 0.001 0.043 6.742 0.225 . ENSG00000167220.7 Muscle_Skeletal 0.4306 0.3569 0.5589 0.4464 0.4909 0.3613 0.3979 0.4116 0.4602 0.3875 0.3540 0.5478 0.5033 0.4789 0.3436 0.3942 0.4153 het 2747.64 239 18 44585955 . G A 2747.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.490;DP=239;DS;Dels=0.00;FS=6.347;HRun=3;HaplotypeScore=13.2607;MQ=58.74;MQ0=1;MQRankSum=2.273;QD=11.50;ReadPosRankSum=0.299;VQSLOD=2.4338;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,104:239:99:2778,0,3622 18 45555829 45555829 T C exonic ZBTB7C synonymous SNV ZBTB7C:NM_001039360:exon3:c.A1662G:p.T554T,ZBTB7C:NM_001318841:exon5:c.A1662G:p.T554T 0.41 0.56 0.37 0.47 0.26 0.34 0.3740 0.5371 0.4744 0.4917 0.3692 0.3157 0.3542 0.3620 0.34 0.47 0.28 0.3 0.14 rs7231151 COSM3756152 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3322 0.4979 0.4352 0.2851 0.4648 0.2888 0.2701 0.3098 0.3308 0.3585 0.4973 0.3902 0.26 0.4672 0.3045 0.2842 0.2797 het 216.48 25 18 45555829 . T C 216.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.527;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.527;QD=8.66;ReadPosRankSum=-0.028;VQSLOD=6.3690;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,10:25:99:246,0,402 18 45566276 45566276 G A exonic ZBTB7C synonymous SNV ZBTB7C:NM_001039360:exon2:c.C1203T:p.F401F,ZBTB7C:NM_001318841:exon4:c.C1203T:p.F401F 0.2 0.26 0.2 0.23 0.17 0.098 0.1811 0.2593 0.2248 0.2530 0.2082 0.1634 0.1860 0.1242 0.2 0.26 0.17 0.17 0.14 rs45501996 COSM3756153 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1824 0.2585 0.2220 0.1583 0.2567 0.2080 0.1610 0.1906 0.1253 0.1970 0.2424 0.2005 0.1192 0.2645 0.2092 0.1642 0.1609 het 1709.50 133 18 45566276 . G A 1709.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.975;DP=133;Dels=0.00;FS=5.365;HRun=2;HaplotypeScore=4.7828;MQ=59.83;MQ0=0;MQRankSum=0.799;QD=12.85;ReadPosRankSum=-0.313;VQSLOD=4.5808;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,66:133:99:1739,0,1985 18 46284587 46284587 T C exonic CTIF synonymous SNV CTIF:NM_014772:exon8:c.T882C:p.L294L,CTIF:NM_001142397:exon9:c.T882C:p.L294L 0.86 1. 0.75 0.89 0.78 0.8 0.8081 0.9639 0.7920 0.9001 0.7646 0.7840 0.8082 0.7881 0.84 0.96 0.77 0.83 0.34 rs1038308 COSM1162540;COSM1162539 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8030 0.9651 0.7900 0.8189 0.9039 0.7715 0.7786 0.8029 0.7858 0.8368 0.9554 0.7955 0.8344 0.8899 0.7762 0.7816 0.7900 het 1563.50 106 18 46284587 . T C 1563.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.402;DP=106;Dels=0.00;FS=1.291;HRun=0;HaplotypeScore=3.6259;MQ=59.78;MQ0=0;MQRankSum=0.782;QD=14.75;ReadPosRankSum=-1.145;VQSLOD=5.5782;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,54:106:99:1593,0,1495 18 47093864 47093864 C T exonic LIPG nonsynonymous SNV LIPG:NM_001308006:exon3:c.C332T:p.T111I,LIPG:NM_006033:exon3:c.C332T:p.T111I 0.24 0.067 0.23 0.33 0.3 0.33 0.2665 0.0960 0.1435 0.3210 0.2821 0.2966 0.2965 0.3017 0.23 0.11 0.29 0.2 0.26 rs2000813 COSM3756154 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.07 0.682 T 0.005 0.119 B 0.006 0.112 B 0.398 0.132 N 1 0.090 P 0.775 0.195 N -2.67 0.903 D -2.35 0.519 N 0.092 0.348 -1.077 0.080 T 0.000 0.000 T . . . 0.736 0.164 9.059 0.983 0.394 0.090 0.146 N c -1.047 -1.071 0.320 0.194 0.732 0.924 0 -3.65 0.042 0.421 0.208 -0.427 0.059 0.015 0.189 0.037 0.154 5.018 0.136 Alpha/Beta hydrolase fold|Lipase\x2c N-terminal . . 0.2656 0.0918 0.1517 0.2816 0.3271 0.2787 0.2984 0.2951 0.3033 0.2291 0.1024 0.1719 0.2583 0.3441 0.2600 0.2829 0.2739 het 802.46 65 18 47093864 . C T 802.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.665;DP=65;Dels=0.00;FS=3.997;HRun=0;HaplotypeScore=1.9962;MQ=60.00;MQ0=0;MQRankSum=0.665;QD=12.35;ReadPosRankSum=0.572;VQSLOD=6.1705;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,30:65:99:832,0,897 18 47455923 47455923 C T exonic MYO5B synonymous SNV MYO5B:NM_001080467:exon17:c.G2049A:p.V683V 0.41 0.38 0.39 0.27 0.55 0.47 0.4831 0.4200 0.3027 0.2537 0.4729 0.5538 0.5024 0.4819 0.51 0.43 0.55 0.36 0.36 rs2298628 COSM3756156 1(large_intestine) Benign|Benign Diarrhea_with_Microvillus_Atrophy|not_specified RCV000299148.1|RCV000454433.1 MedGen|MedGen CN239249|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4682 0.4036 0.3101 0.5884 0.2397 0.4508 0.5522 0.4856 0.4719 0.4823 0.4149 0.3281 0.5709 0.2228 0.4622 0.5628 0.4820 het 233.62 29 18 47455923 . C T 233.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.000;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.86;MQ0=0;MQRankSum=1.641;QD=8.06;ReadPosRankSum=-0.292;VQSLOD=6.0470;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,11:29:99:264,0,448 18 47563299 47563299 T C exonic MYO5B nonsynonymous SNV MYO5B:NM_001080467:exon4:c.A376G:p.T126A 0.97 0.9 1. 1. 1. 1. 0.9931 0.9224 0.9972 1 1 0.9995 0.9978 0.9998 0.98 0.93 1. 0.97 1. rs1815930 . . Benign|Benign Diarrhea_with_Microvillus_Atrophy|not_specified RCV000290518.1|RCV000455826.1 MedGen|MedGen CN239249|CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.986 0.246 P -2.235 0.001 N -2.13 0.864 D 2.78 0.002 N 0.076 0.067 -0.930 0.442 T 0.000 0.000 T . . . 0.998 0.190 10.65 0.675 0.081 0.281 0.232 N c -0.738 -0.369 1.000 0.747 0.615 0.372 0 5.52 0.821 6.180 0.717 0.067 0.174 1.000 0.715 0.998 0.697 13.674 0.618 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.9944 0.9230 0.9967 1 1 1 0.9995 0.9976 0.9998 0.9781 0.9242 0.9928 1 1 1 0.9995 0.9969 hom 3145.01 97 18 47563299 . T C 3145.01 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.588;DP=97;Dels=0.00;FS=3.821;HRun=0;HaplotypeScore=5.3280;MQ=58.84;MQ0=0;MQRankSum=1.552;QD=32.42;ReadPosRankSum=1.443;VQSLOD=4.3995;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,96:97:99:3178,245,0 18 47908556 47908556 G A exonic SKA1 nonsynonymous SNV SKA1:NM_001039535:exon4:c.G271A:p.V91I,SKA1:NM_145060:exon4:c.G271A:p.V91I 0.8 0.93 0.8 0.88 0.6 0.78 0.6898 0.8908 0.8453 0.9026 0.6729 0.5931 0.6803 0.7407 0.7 0.88 0.61 0.74 0.57 rs6507992 COSM3756158 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.080 B 0.005 0.329 N 1.000 0.588 P -1.395 0.006 N 0.91 0.449 T 0.07 0.090 N 0.042 0.029 -0.953 0.405 T 0.000 0.000 T . . . 0.179 0.111 4.454 0.092 0.001 0.046 0.101 N c -1.010 -0.804 0.003 0.102 0.732 0.924 0 1.95 0.250 1.356 0.335 -0.109 0.115 1.000 0.715 0.933 0.406 8.559 0.325 . . . 0.6722 0.8878 0.8252 0.6784 0.8983 0.6608 0.5845 0.6529 0.7329 0.7226 0.8906 0.8162 0.6821 0.9057 0.6743 0.6159 0.6599 het 1230.76 108 18 47908556 . G A 1230.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.714;DP=108;Dels=0.00;FS=3.626;HRun=0;HaplotypeScore=0.9995;MQ=58.52;MQ0=0;MQRankSum=0.209;QD=11.40;ReadPosRankSum=0.086;VQSLOD=5.9622;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,57:108:99:1261,0,1327 18 48331524 48331524 G A exonic MRO synonymous SNV MRO:NM_001127174:exon4:c.C429T:p.D143D,MRO:NM_001127175:exon4:c.C471T:p.D157D,MRO:NM_001127176:exon4:c.C471T:p.D157D,MRO:NM_031939:exon5:c.C429T:p.D143D 0.45 0.44 0.42 0.34 0.48 0.58 0.4736 0.4542 0.3874 0.3648 0.4752 0.4833 0.4635 0.5639 0.47 0.46 0.47 0.54 0.51 rs2586776 COSM1389008;COSM1389007 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4686 0.4516 0.3951 0.4267 0.3649 0.4748 0.4870 0.4465 0.5619 0.4752 0.4575 0.4270 0.4073 0.3608 0.4911 0.4983 0.4743 het 994.13 94 18 48331524 . G A 994.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.399;DP=94;Dels=0.00;FS=4.215;HRun=0;HaplotypeScore=0.9332;MQ=58.53;MQ0=0;MQRankSum=0.975;QD=10.58;ReadPosRankSum=-0.692;VQSLOD=5.6577;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,40:94:99:1024,0,1304 18 48331553 48331553 T C exonic MRO nonsynonymous SNV MRO:NM_001127174:exon4:c.A400G:p.T134A,MRO:NM_001127175:exon4:c.A442G:p.T148A,MRO:NM_001127176:exon4:c.A442G:p.T148A,MRO:NM_031939:exon5:c.A400G:p.T134A 0.26 0.048 0.34 0.28 0.41 0.3 0.3613 0.0985 0.3841 0.3075 0.4014 0.4056 0.3689 0.3433 0.3 0.12 0.4 0.23 0.42 rs2849233 . . . . . . . . . . . . . 0.228 0.410 T 0.894 0.568 P 0.42 0.530 B 0.002 0.375 N 0.194 0.346 P 1.685 0.434 L 1.49 0.639 T -1.63 0.391 N 0.166 0.470 -0.919 0.457 T 0.000 0.000 T . . . 1.653 0.260 14.14 0.997 0.789 0.724 0.352 D c -0.031 0.060 1.000 0.517 0.554 0.283 0 5.71 0.890 2.462 0.445 1.061 0.807 1.000 0.715 0.998 0.697 12.350 0.543 Armadillo-like helical|Armadillo-type fold . . 0.3671 0.0918 0.3833 0.3134 0.3051 0.4032 0.4128 0.3552 0.3488 0.3262 0.1021 0.4045 0.3113 0.3288 0.4101 0.4300 0.3717 het 1535.99 151 18 48331553 . T C 1535.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.858;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9966;MQ=58.78;MQ0=0;MQRankSum=0.019;QD=10.17;ReadPosRankSum=-0.255;VQSLOD=6.4576;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,63:151:99:1566,0,2035 18 49867224 49867224 T C exonic DCC nonsynonymous SNV DCC:NM_005215:exon1:c.T67C:p.F23L 1. 1. 1. 1. 0.98 1. 0.9862 0.9981 0.9949 0.9998 0.9483 0.9818 0.9857 0.9988 0.99 1. 0.98 0.99 0.92 rs9951523 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.295 0.147 N 1.000 0.090 P 0 0.065 N 0.84 0.475 T 0.58 0.026 N 0.054 0.036 -0.966 0.380 T 0.000 0.000 T . . . 1.932 0.293 15.79 0.899 0.186 0.173 0.196 N c -0.619 -0.374 0.999 0.384 0.455 0.088 0 4.83 0.617 1.216 0.318 0.017 0.142 1.000 0.715 0.995 0.604 10.143 0.417 Immunoglobulin-like domain . . 0.9853 0.9980 0.9943 0.9742 0.9999 0.9485 0.9832 0.9856 0.9989 0.9833 0.9979 0.9904 0.9801 1 0.9399 0.9834 0.9735 hom 5588.11 175 18 49867224 . T C 5588.11 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1136;MQ=59.55;MQ0=0;QD=31.93;VQSLOD=8.9133;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5588,430,0 18 50432602 50432602 C G exonic DCC nonsynonymous SNV DCC:NM_005215:exon3:c.C601G:p.R201G 0.48 0.34 0.48 0.54 0.42 0.66 0.4447 0.3418 0.6286 0.5527 0.3930 0.3743 0.4657 0.6287 0.36 0.34 0.37 0.51 0.3 rs2229080 COSM5009502;COSM5009501 1(large_intestine) . . . . . . . . . . . 0.114 0.286 T 0.083 0.429 B 0.057 0.453 B 0.000 0.513 D 0.687 0.302 P 0.405 0.124 N 1.11 0.389 T -2.28 0.508 N 0.264 0.527 -0.913 0.465 T 0.000 0.000 T . . . 2.708 0.387 20.9 0.947 0.248 0.729 0.354 D c -0.313 -0.260 0.000 0.012 0.487 0.133 0 -0.494 0.114 0.077 0.145 0.036 0.152 0.940 0.324 0.993 0.574 17.824 0.885 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.4524 0.3361 0.6156 0.5037 0.5543 0.3903 0.3634 0.4419 0.6269 0.3620 0.3290 0.5769 0.4867 0.5330 0.3907 0.3401 0.3867 hom 3399.50 115 18 50432602 . C G 3399.50 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.56;VQSLOD=12.8093;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3399,283,0 18 50936994 50936994 T C exonic DCC synonymous SNV DCC:NM_005215:exon20:c.T3108C:p.P1036P 0.31 0.17 0.31 0.23 0.54 0.35 0.4517 0.2195 0.2462 0.2476 0.6270 0.5465 0.4945 0.3925 0.44 0.24 0.54 0.35 0.53 rs2229082 COSM4415037;COSM4415038 1(haematopoietic_and_lymphoid_tissue);1(skin);3(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4507 0.2094 0.2711 0.4346 0.2439 0.6335 0.5488 0.4785 0.3952 0.4582 0.2317 0.2924 0.4570 0.2382 0.6188 0.5791 0.5607 het 1146.88 75 18 50936994 . T C 1146.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.280;DP=75;Dels=0.00;FS=2.698;HRun=2;HaplotypeScore=1.7719;MQ=58.42;MQ0=0;MQRankSum=-0.106;QD=15.29;ReadPosRankSum=0.642;VQSLOD=5.3382;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,43:75:99:1177,0,924 18 51820805 51820805 G A exonic POLI nonsynonymous SNV POLI:NM_001351616:exon8:c.G1828A:p.A610T,POLI:NM_001351610:exon9:c.G2065A:p.A689T,POLI:NM_001351613:exon9:c.G1954A:p.A652T,POLI:NM_001351614:exon9:c.G1882A:p.A628T,POLI:NM_001351615:exon9:c.G1882A:p.A628T,POLI:NM_001351617:exon9:c.G1648A:p.A550T,POLI:NM_001351620:exon9:c.G1411A:p.A471T,POLI:NM_001351611:exon10:c.G1987A:p.A663T,POLI:NM_001351612:exon10:c.G1987A:p.A663T,POLI:NM_001351618:exon10:c.G1648A:p.A550T,POLI:NM_001351619:exon10:c.G1648A:p.A550T,POLI:NM_001351632:exon10:c.G2116A:p.A706T,POLI:NM_007195:exon10:c.G2191A:p.A731T 0.79 0.99 0.65 0.71 0.71 0.79 0.7282 0.9444 0.5782 0.7238 0.7264 0.7099 0.7138 0.7756 0.78 0.93 0.7 0.81 . rs8305 . . . . . . . . . . . . . 0.892 0.025 T 0.001 0.067 B 0.001 0.040 B 0.650 0.105 N 1.000 0.186 P -0.345 0.033 N 1.12 0.456 T -0.42 0.142 N 0.044 0.024 -0.992 0.322 T 0.000 0.000 T . . . -0.572 0.051 0.146 0.569 0.055 0.050 0.107 N c -1.640 -1.598 0.997 0.355 0.732 0.924 0 -5.15 0.026 -0.631 0.056 -1.028 0.021 0.015 0.189 0.278 0.233 10.626 0.445 . ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000166845.9|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000101751.6|ENSG00000134046.7|ENSG00000101751.6|ENSG00000101751.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.7194 0.9487 0.6018 0.8051 0.7202 0.7194 0.7020 0.7102 0.7692 0.7686 0.9401 0.6041 0.8079 0.7055 0.7325 0.6945 0.7311 hom 2275.93 80 18 51820805 . G A 2275.93 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;QD=28.45;VQSLOD=8.4051;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2309,184,0 18 51858197 51858197 A G exonic STARD6 synonymous SNV STARD6:NM_139171:exon4:c.T300C:p.S100S 0.13 0.12 0.14 0.025 0.19 0.17 0.1742 0.1297 0.1135 0.0179 0.1594 0.2077 0.1927 0.1963 0.18 0.14 0.2 0.11 0.13 rs17470798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1715 0.1371 0.1203 0.2294 0.0162 0.1585 0.2075 0.1812 0.1899 0.1729 0.1381 0.1277 0.19 0.0204 0.1634 0.2131 0.1878 hom 2432.40 79 18 51858197 . A G 2432.40 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2678;MQ=59.23;MQ0=0;QD=30.79;VQSLOD=8.6719;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2465,187,0 18 52258548 52258548 T C exonic DYNAP nonsynonymous SNV DYNAP:NM_173629:exon1:c.T113C:p.V38A,DYNAP:NM_001307955:exon2:c.T122C:p.V41A 0.12 0.15 0.086 0.029 0.16 0.15 0.1405 0.1524 0.0620 0.0218 0.1820 0.1609 0.1556 0.1500 0.15 0.15 0.15 0.098 0.098 rs35428499 . . . . . . . . . . . . . 0.147 0.249 T 0.093 0.238 B 0.077 0.270 B 0.728 0.063 N 1 0.090 P 0.625 0.159 N 1.05 0.400 T -2.29 0.510 N 0.198 0.243 -0.965 0.382 T 0.000 0.000 T . . . -0.902 0.036 0.026 0.682 0.083 0.016 0.052 N c -1.062 -1.089 0.000 0.012 0.487 0.133 0 -1.32 0.087 -0.150 0.101 0.961 0.567 0.000 0.063 0.004 0.083 9.270 0.366 . . . 0.1370 0.1573 0.0649 0.1557 0.0229 0.1814 0.1584 0.1514 0.1489 0.1557 0.1568 0.0895 0.1523 0.0243 0.1807 0.1665 0.1643 hom 3881.34 126 18 52258548 . T C 3881.34 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5165;MQ=58.39;MQ0=0;QD=30.80;VQSLOD=8.7038;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3881,298,0 18 52605188 52605188 C T exonic CCDC68 synonymous SNV CCDC68:NM_001143829:exon5:c.G345A:p.K115K,CCDC68:NM_025214:exon5:c.G345A:p.K115K 0.18 0.011 0.15 0.3 0.25 0.22 0.2048 0.0404 0.0959 0.3071 0.2313 0.2335 0.2399 0.2034 0.17 0.047 0.23 0.11 0.15 rs1344011 COSM4000426 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2022 0.0356 0.1022 0.2585 0.3083 0.2319 0.2291 0.2172 0.1939 0.1806 0.0430 0.1313 0.2848 0.3101 0.2416 0.2313 0.2108 het 393.80 40 18 52605188 . C T 393.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.699;DP=40;Dels=0.00;FS=1.243;HRun=2;HaplotypeScore=2.9924;MQ=59.06;MQ0=0;MQRankSum=0.856;QD=9.85;ReadPosRankSum=-0.177;VQSLOD=6.5187;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,18:40:99:424,0,569 18 53303101 53303101 C G exonic TCF4 nonsynonymous SNV TCF4:NM_001243226:exon1:c.G28C:p.A10P 1. 0.99 1. 1. 1. 1. 0.9994 0.9924 1 1 1 1 1 0.9999 1. 1. 1. 0.99 . rs611326 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9934 0.9996 1 1 1 1.0000 1 1.0000 0.9987 0.9953 1 1 1 1 1 1 hom 642.60 22 18 53303101 . C G 642.60 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=29.21;VQSLOD=8.3527;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:51.16:676,51,0 18 54339818 54339818 C G exonic WDR7 synonymous SNV WDR7:NM_015285:exon2:c.C72G:p.A24A,WDR7:NM_052834:exon2:c.C72G:p.A24A 0.9 0.64 0.97 1. 1. 1. 0.9728 0.7166 0.9853 1 0.9997 0.9976 0.9868 0.9994 0.91 0.73 1. 0.8 0.96 rs568078 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9783 0.7138 0.9840 0.9864 0.9999 0.9998 0.9982 0.9892 0.9993 0.9182 0.7181 0.9845 0.9801 1 1 0.9978 0.9756 het 1252.73 114 18 54339818 . C G 1252.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.612;DP=114;Dels=0.00;FS=2.450;HRun=1;HaplotypeScore=5.9220;MQ=59.47;MQ0=0;MQRankSum=1.152;QD=10.99;ReadPosRankSum=1.210;VQSLOD=4.0035;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,54:114:99:1283,0,1449 18 54448778 54448778 G A exonic WDR7 synonymous SNV WDR7:NM_052834:exon18:c.G2982A:p.A994A,WDR7:NM_015285:exon19:c.G3081A:p.A1027A 0.58 0.33 0.72 0.69 0.61 0.69 0.6357 0.3709 0.7537 0.6946 0.5966 0.6394 0.6586 0.6883 0.55 0.38 0.64 0.52 0.52 rs2302845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6418 0.3661 0.7435 0.6466 0.6907 0.6002 0.6374 0.6448 0.6864 0.5693 0.3772 0.7093 0.6367 0.6842 0.6027 0.6464 0.6507 het 1196.19 78 18 54448778 . G A 1196.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.675;DP=78;Dels=0.00;FS=2.157;HRun=0;HaplotypeScore=1.6647;MQ=60.00;MQ0=0;MQRankSum=0.774;QD=15.34;ReadPosRankSum=-0.182;VQSLOD=6.4585;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,47:78:99:1226,0,721 18 55021725 55021725 A C exonic ST8SIA3 nonsynonymous SNV ST8SIA3:NM_015879:exon2:c.A272C:p.K91T 0.37 0.52 0.32 0.49 0.16 0.28 0.2510 0.4556 0.3040 0.5169 0.2301 0.1704 0.2274 0.2814 0.26 0.45 0.16 0.37 0.13 rs3745060 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.008 0.313 N 1.000 0.202 P 0 0.065 N 1.05 0.400 T -0.02 0.073 N 0.028 0.011 -0.913 0.465 T 0.000 0.000 T . . . 0.351 0.128 6.175 0.746 0.104 0.000 0.000 N c -0.987 -0.848 0.998 0.368 0.455 0.088 0 2.02 0.255 0.001 0.128 0.038 0.153 0.045 0.210 1.000 0.888 2.535 0.044 . . . 0.2471 0.4553 0.2978 0.1276 0.5080 0.2279 0.1693 0.2056 0.2841 0.2869 0.4555 0.2768 0.1060 0.5167 0.2303 0.1837 0.2505 het 1862.54 129 18 55021725 . A C 1862.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.745;DP=129;Dels=0.00;FS=1.638;HRun=0;HaplotypeScore=0.9958;MQ=59.63;MQ0=0;MQRankSum=0.358;QD=14.44;ReadPosRankSum=0.162;VQSLOD=6.8562;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,68:129:99:1893,0,1681 18 55027334 55027334 G T exonic ST8SIA3 synonymous SNV ST8SIA3:NM_015879:exon4:c.G969T:p.P323P . . . . . . 0.2457 0.3916 0.3229 0.5182 0.2292 0.1681 0.2246 0.2784 0.23 0.39 0.16 0.36 0.12 rs1153626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2439 0.3962 0.3133 0.1274 0.5106 0.2264 0.1665 0.2024 0.2811 0.2672 0.3886 0.2924 0.1060 0.5186 0.2299 0.1813 0.25 het 1104.29 88 18 55027334 . G T 1104.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.173;DP=88;Dels=0.00;FS=0.815;HRun=3;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;MQRankSum=0.033;QD=12.55;ReadPosRankSum=-0.678;VQSLOD=6.5881;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,41:88:99:1134,0,1182 18 55143766 55143766 C T exonic ONECUT2 synonymous SNV ONECUT2:NM_004852:exon2:c.C1326T:p.F442F 0.39 0.51 0.42 0.47 0.24 0.29 0.2964 0.4806 0.5181 0.4573 0.3081 0.2132 0.2511 0.2820 0.29 0.44 0.21 0.42 0.31 rs3745074 COSM4417780 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3041 0.4837 0.5049 0.1867 0.4577 0.2949 0.2148 0.2693 0.2840 0.3260 0.4806 0.4462 0.1954 0.4462 0.2957 0.2300 0.2678 het 1797.08 127 18 55143766 . C T 1797.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.131;DP=127;Dels=0.00;FS=2.253;HRun=2;HaplotypeScore=3.0752;MQ=59.62;MQ0=0;MQRankSum=1.245;QD=14.15;ReadPosRankSum=0.433;VQSLOD=6.2919;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,68:127:99:1827,0,1568 18 55221648 55221648 T C exonic FECH synonymous SNV FECH:NM_000140:exon9:c.A921G:p.P307P,FECH:NM_001012515:exon9:c.A939G:p.P313P 0.76 0.97 0.69 0.63 0.64 0.76 0.7030 0.9315 0.6244 0.6666 0.5479 0.6878 0.6762 0.7578 0.76 0.92 0.69 0.83 0.61 rs536560 COSM1130055 1(prostate);1(large_intestine) Benign|Benign not_specified|Erythropoietic_protoporphyria RCV000243889.1|RCV000271830.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0162568:177000:ORPHA79278:51022005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6911 0.9343 0.6229 0.7092 0.6614 0.5510 0.6921 0.6803 0.7553 0.7306 0.9266 0.6444 0.7053 0.6870 0.5427 0.6754 0.65 hom 6321.88 216 18 55221648 . T C 6321.88 Mask AC=2;AF=1.00;AN=2;DP=216;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5290;MQ=59.25;MQ0=0;QD=29.27;VQSLOD=6.5577;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,215:216:99:6293,520,0 18 55226383 55226383 G C exonic FECH synonymous SNV FECH:NM_000140:exon7:c.C798G:p.P266P,FECH:NM_001012515:exon7:c.C816G:p.P272P 0.75 0.98 0.69 0.61 0.64 0.74 0.6973 0.9335 0.6227 0.6411 0.5464 0.6845 0.6696 0.7436 0.76 0.92 0.68 0.81 0.62 rs536765 COSM3756165 1(large_intestine) Benign|Benign not_specified|Erythropoietic_protoporphyria RCV000253626.1|RCV000317195.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0162568:177000:ORPHA79278:51022005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6858 0.9367 0.6213 0.7009 0.6367 0.5484 0.6895 0.6746 0.7417 0.7278 0.9282 0.6391 0.7067 0.6611 0.5398 0.6726 0.6487 hom 3586.25 118 18 55226383 . G C 3586.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.703;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=60.00;MQ0=0;MQRankSum=0.015;QD=30.39;ReadPosRankSum=0.133;VQSLOD=7.9154;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,117:118:99:3586,280,0 18 55317676 55317676 C T exonic ATP8B1 nonsynonymous SNV ATP8B1:NM_005603:exon27:c.G3454A:p.A1152T 1. 1. 1. 1. 1. 1. 0.9997 0.9969 0.9999 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs222581 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.200 P -1.51 0.005 N 1.26 0.363 T 3.07 0.001 N 0.028 0.234 -0.960 0.392 T 0.000 0.000 T . . . 0.630 0.154 8.365 0.100 0.001 0.230 0.217 N c -1.103 -0.889 1.000 0.747 0.722 0.854 0 4.34 0.511 1.997 0.402 0.090 0.195 1.000 0.715 0.365 0.248 5.832 0.177 P-type ATPase\x2c C-terminal . . 0.9998 0.9973 0.9999 1 1 1 1.0000 0.9998 1 0.9993 0.9976 1 1 1 1 1 0.9990 hom 4174.17 137 18 55317676 . C T 4174.17 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;QD=30.47;VQSLOD=9.3034;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4173,346,0 18 55362532 55362532 T G exonic ATP8B1 synonymous SNV ATP8B1:NM_005603:exon10:c.A811C:p.R271R 0.99 0.97 1. 1. 1. 1. 0.9972 0.9702 0.9985 0.9998 1 0.9998 0.9978 0.9999 0.99 0.97 1. 0.99 0.52 rs319443 . . Benign|Benign not_specified|Familial_Intrahepatic_Cholestasis RCV000252875.2|RCV000366441.1 MedGen|MedGen CN169374|CN239338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9979 0.9713 0.9984 0.9998 0.9999 1 0.9999 0.9984 1.0000 0.9919 0.9718 0.9964 1 1 1 0.9999 1 hom 2350.14 78 18 55362532 . T G 2350.14 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;QD=30.13;VQSLOD=9.1647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2383,184,0 18 55364852 55364852 A G exonic ATP8B1 synonymous SNV ATP8B1:NM_005603:exon8:c.T696C:p.D232D 0.99 0.98 1. 1. 1. 1. 0.9980 0.9801 0.9988 0.9998 1 0.9997 0.9989 0.9999 0.99 0.98 1. 0.96 0.69 rs319438 . . Benign|Benign not_specified|Familial_Intrahepatic_Cholestasis RCV000243388.2|RCV000313084.1 MedGen|MedGen CN169374|CN239338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9985 0.9798 0.9990 0.9998 0.9998 1.0000 0.9998 0.9989 1.0000 0.9944 0.9802 0.9988 1 1 1 0.9999 1 hom 7786.96 249 18 55364852 . A G 7786.96 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6417;MQ=59.36;MQ0=0;QD=31.27;VQSLOD=7.9416;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:249:99:7785,656,0 18 56149099 56149099 T C exonic ALPK2 nonsynonymous SNV ALPK2:NM_052947:exon13:c.A6469G:p.I2157V 0.92 0.89 0.89 1. 0.83 0.99 0.8683 0.8865 0.9166 0.9998 0.8760 0.8158 0.8656 0.9631 0.83 0.89 0.81 0.94 0.7 rs7240666 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.006 0.011 N 1 0.090 P -2.005 0.002 N 1.12 0.387 T 0.86 0.017 N 0.006 0.000 -0.924 0.450 T 0.000 0.000 T . . . -2.284 0.005 0.001 0.414 0.030 0.014 0.048 N c -1.598 -1.453 1.000 0.747 0.516 0.203 0 2.83 0.320 0.491 0.220 -0.873 0.028 0.000 0.063 0.000 0.016 5.613 0.166 . . . 0.8682 0.8857 0.9080 0.7683 0.9998 0.8821 0.8150 0.8432 0.9612 0.8605 0.8815 0.8666 0.7467 0.9988 0.8820 0.8288 0.8824 het 1683.14 98 18 56149099 . T C 1683.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.069;DP=98;Dels=0.00;FS=8.328;HRun=0;HaplotypeScore=0.9789;MQ=58.89;MQ0=0;MQRankSum=-0.762;QD=17.17;ReadPosRankSum=-1.967;VQSLOD=3.6724;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,59:98:99:1713,0,1012 18 56202418 56202418 T C exonic ALPK2 synonymous SNV ALPK2:NM_052947:exon5:c.A5001G:p.K1667K 0.93 0.76 0.96 1. 1. 0.99 0.9777 0.8001 0.9800 1 0.9973 0.9955 0.9824 0.9967 0.93 0.8 1. 0.9 0.96 rs10469212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9812 0.7945 0.9794 0.9942 1 0.9972 0.9957 0.9821 0.9968 0.9410 0.8000 0.9749 0.9967 1 0.9971 0.9974 0.9868 hom 4185.79 135 18 56202418 . T C 4185.79 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7873;MQ=59.68;MQ0=0;QD=31.01;VQSLOD=9.5298;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4185,322,0 18 56202982 56202982 A T exonic ALPK2 synonymous SNV ALPK2:NM_052947:exon5:c.T4437A:p.A1479A 0.67 0.47 0.68 0.8 0.77 0.72 0.7467 0.5194 0.6949 0.7840 0.8328 0.7826 0.7655 0.7257 0.68 0.52 0.77 0.6 0.73 rs3826594 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7482 0.5097 0.7048 0.7278 0.7834 0.8287 0.7814 0.7467 0.7226 0.7142 0.5123 0.7285 0.7417 0.7938 0.8294 0.791 0.7729 het 1484.75 96 18 56202982 . A T 1484.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.290;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8129;MQ=59.81;MQ0=0;MQRankSum=0.227;QD=15.47;ReadPosRankSum=-1.337;VQSLOD=5.6629;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,50:96:99:1515,0,1398 18 56203411 56203411 G C exonic ALPK2 synonymous SNV ALPK2:NM_052947:exon5:c.C4008G:p.P1336P 0.67 0.47 0.68 0.8 0.77 0.72 0.7461 0.5164 0.6947 0.7835 0.8329 0.7822 0.7649 0.7254 0.68 0.52 0.77 0.6 0.71 rs3809980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7480 0.5077 0.7046 0.7281 0.7837 0.8287 0.7813 0.7464 0.7225 0.7142 0.5117 0.7285 0.7417 0.7933 0.8289 0.7912 0.7745 het 1187.01 109 18 56203411 . G C 1187.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.846;DP=109;Dels=0.00;FS=0.781;HRun=0;HaplotypeScore=0.9992;MQ=59.36;MQ0=0;MQRankSum=-0.760;QD=10.89;ReadPosRankSum=-0.079;VQSLOD=6.2756;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,46:109:99:1217,0,1794 18 56203447 56203447 A G exonic ALPK2 synonymous SNV ALPK2:NM_052947:exon5:c.T3972C:p.H1324H 0.67 0.47 0.68 0.8 0.77 0.72 0.7463 0.5167 0.6952 0.7837 0.8332 0.7825 0.7632 0.7255 0.68 0.52 0.77 0.6 0.71 rs3809979 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7481 0.5078 0.7047 0.7277 0.7838 0.8286 0.7815 0.7463 0.7225 0.7144 0.5117 0.7279 0.7417 0.7939 0.8288 0.7916 0.7745 het 1745.57 141 18 56203447 . A G 1745.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.033;DP=141;Dels=0.00;FS=3.289;HRun=0;HaplotypeScore=1.9874;MQ=59.41;MQ0=0;MQRankSum=0.105;QD=12.38;ReadPosRankSum=0.114;VQSLOD=6.6926;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,65:141:99:1776,0,2121 18 56203891 56203891 G T exonic ALPK2 synonymous SNV ALPK2:NM_052947:exon5:c.C3528A:p.P1176P 0.67 0.47 0.68 0.8 0.77 0.72 0.7458 0.5161 0.6936 0.7827 0.8329 0.7819 0.7632 0.7256 0.68 0.52 0.77 0.6 0.72 rs3809978 COSM4827881 1(cervix) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7477 0.5076 0.7039 0.7278 0.7833 0.8286 0.7810 0.7461 0.7224 0.7120 0.5081 0.7260 0.7417 0.7925 0.8288 0.7891 0.7710 het 2448.37 169 18 56203891 . G T 2448.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.268;DP=169;Dels=0.00;FS=1.235;HRun=0;HaplotypeScore=0.8667;MQ=58.97;MQ0=0;MQRankSum=-1.601;QD=14.49;ReadPosRankSum=-2.114;VQSLOD=4.8992;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,89:169:99:2478,0,2133 18 56203898 56203898 T G exonic ALPK2 nonsynonymous SNV ALPK2:NM_052947:exon5:c.A3521C:p.H1174P 0.67 0.47 0.68 0.8 0.77 0.72 0.7457 0.5161 0.6933 0.7826 0.8332 0.7819 0.7632 0.7255 0.68 0.52 0.77 0.59 0.73 rs3809977 . . . . . . . . . . . . . 0.071 0.351 T 0.994 0.647 D 0.906 0.626 P 0.258 0.037 N 1 0.090 P 0.895 0.225 L 0.88 0.460 T -3.72 0.707 D 0.183 0.223 -0.891 0.489 T 0.000 0.000 T . . . 1.164 0.206 11.56 0.935 0.227 0.058 0.115 N c -0.514 -0.716 1.000 0.747 0.447 0.083 0 -1.63 0.079 -0.638 0.055 1.042 0.661 0.000 0.063 0.070 0.176 1.043 0.015 . . . 0.7476 0.5074 0.7038 0.7278 0.7833 0.8285 0.7809 0.7461 0.7224 0.7120 0.5081 0.7265 0.7417 0.7924 0.8288 0.7891 0.7710 het 2445.23 165 18 56203898 . T G 2445.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.123;DP=165;Dels=0.00;FS=2.802;HRun=3;HaplotypeScore=0.8667;MQ=58.95;MQ0=0;MQRankSum=2.484;QD=14.82;ReadPosRankSum=-2.608;VQSLOD=4.3184;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,88:165:99:2475,0,2024 18 56204250 56204250 A C exonic ALPK2 nonsynonymous SNV ALPK2:NM_052947:exon5:c.T3169G:p.L1057V 0.67 0.47 0.68 0.8 0.77 0.72 0.7463 0.5164 0.6946 0.7845 0.8329 0.7824 0.7632 0.7256 0.68 0.52 0.77 0.6 0.72 rs3809976 COSM4999545 1(pancreas) . . . . . . . . . . . 0.685 0.044 T 0.782 0.424 P 0.26 0.377 B 0.000 0.002 N 1 0.090 P 0.895 0.225 L 0.94 0.437 T -0.66 0.191 N 0.027 0.009 -0.844 0.524 T 0.000 0.000 T . . . 0.052 0.099 3.100 0.940 0.235 0.063 0.121 N c -1.116 -1.247 1.000 0.747 0.554 0.283 0 -3.32 0.046 -0.159 0.100 0.196 0.251 0.000 0.063 0.001 0.043 5.365 0.153 . . . 0.7481 0.5077 0.7046 0.7280 0.7847 0.8286 0.7814 0.7458 0.7226 0.7141 0.5107 0.7279 0.7417 0.7954 0.8290 0.7915 0.7729 het 2065.29 130 18 56204250 . A C 2065.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.947;DP=130;Dels=0.00;FS=1.405;HRun=1;HaplotypeScore=3.4423;MQ=58.97;MQ0=0;MQRankSum=0.720;QD=15.89;ReadPosRankSum=-0.796;VQSLOD=6.0423;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,70:130:99:2095,0,1655 18 56204489 56204489 C G exonic ALPK2 nonsynonymous SNV ALPK2:NM_052947:exon5:c.G2930C:p.S977T 0.06 0.0053 0.14 0.12 0.032 0.044 0.0499 0.0072 0.1873 0.1411 0.0284 0.0267 0.0419 0.0358 0.022 0.0073 0.03 0.054 0.025 rs3809975 COSM4000427;COSM4000428 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.03 0.453 D 0.013 0.163 B 0.021 0.181 B 0.004 0.010 N 1 0.090 P 1.795 0.474 L 0.74 0.505 T -1.32 0.330 N 0.029 0.010 -1.084 0.066 T 0.002 0.006 T . . . 2.119 0.316 16.98 0.901 0.188 0.039 0.092 N c -0.903 -0.946 1.000 0.747 0.628 0.401 0 0.184 0.143 -0.352 0.077 -0.384 0.065 0.000 0.063 0.000 0.016 2.033 0.033 . . . 0.0552 0.0054 0.1730 0.0381 0.1385 0.0334 0.0257 0.0503 0.0339 0.0290 0.0072 0.1420 0.0430 0.1247 0.0369 0.0221 0.0407 het 1924.17 156 18 56204489 . C G 1924.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.356;DP=156;Dels=0.00;FS=1.313;HRun=0;HaplotypeScore=7.9969;MQ=58.35;MQ0=0;MQRankSum=-1.768;QD=12.33;ReadPosRankSum=-2.058;VQSLOD=2.7453;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,74:156:99:1954,0,2287 18 56204644 56204644 T G exonic ALPK2 synonymous SNV ALPK2:NM_052947:exon5:c.A2775C:p.V925V 0.34 0.07 0.32 0.57 0.32 0.49 0.3815 0.1090 0.3981 0.5753 0.3811 0.3701 0.3656 0.4888 0.29 0.13 0.37 0.22 0.25 rs12963422 COSM3756171;COSM3756170 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3858 0.1070 0.3923 0.4505 0.5721 0.3773 0.3616 0.3577 0.4912 0.3104 0.1210 0.3747 0.4533 0.5934 0.3618 0.3671 0.3801 het 957.03 67 18 56204644 . T G 957.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.705;DP=67;Dels=0.00;FS=5.150;HRun=1;HaplotypeScore=2.6623;MQ=58.96;MQ0=0;MQRankSum=1.036;QD=14.28;ReadPosRankSum=-0.320;VQSLOD=5.5976;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,32:67:99:987,0,856 18 56204747 56204747 G A exonic ALPK2 nonsynonymous SNV ALPK2:NM_052947:exon5:c.C2672T:p.T891I 0.8 0.64 0.78 0.84 0.92 0.87 0.8801 0.6781 0.7591 0.8226 0.9254 0.9312 0.8943 0.8966 0.84 0.68 0.93 0.71 0.86 rs3826593 COSM4131036 1(thyroid) . . . . . . . . . . . 0.887 0.025 T 0.0 0.026 B 0.0 0.013 B 0.156 0.030 N 1 0.090 P -1.185 0.009 N 0.97 0.425 T 0.35 0.038 N 0.014 0.002 -0.976 0.359 T 0.000 0.000 T . . . 0.316 0.124 5.845 0.070 0.000 0.003 0.017 N c -1.507 -1.492 1.000 0.747 0.405 0.054 1 -4.01 0.038 -0.661 0.054 -0.755 0.034 0.000 0.063 0.218 0.221 1.900 0.030 . . . 0.8787 0.6734 0.7722 0.8860 0.8218 0.9234 0.9336 0.8815 0.8951 0.8515 0.6745 0.8098 0.8907 0.8317 0.9201 0.9387 0.8992 het 1087.76 107 18 56204747 . G A 1087.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.935;DP=107;Dels=0.00;FS=1.576;HRun=0;HaplotypeScore=2.8596;MQ=59.79;MQ0=0;MQRankSum=1.093;QD=10.07;ReadPosRankSum=0.908;VQSLOD=6.1478;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,45:107:99:1118,0,1686 18 56246442 56246442 T C exonic ALPK2 synonymous SNV ALPK2:NM_052947:exon4:c.A1566G:p.G522G 0.37 0.13 0.4 0.6 0.35 0.47 0.3710 0.1773 0.4034 0.6083 0.3715 0.3496 0.3888 0.4314 0.3 0.18 0.35 0.33 0.33 rs12606191 COSM4000431 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3763 0.1708 0.3924 0.3861 0.6089 0.3775 0.3456 0.3959 0.4335 0.3108 0.1777 0.3864 0.3709 0.6157 0.3860 0.3295 0.3548 het 2711.14 238 18 56246442 . T C 2711.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.118;DP=238;DS;Dels=0.00;FS=6.554;HRun=6;HaplotypeScore=13.4166;MQ=59.35;MQ0=0;MQRankSum=-0.848;QD=11.39;ReadPosRankSum=-0.425;VQSLOD=2.2039;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,106:238:99:2741,0,3429 18 56247180 56247180 T C exonic ALPK2 synonymous SNV ALPK2:NM_052947:exon4:c.A828G:p.L276L 0.51 0.43 0.49 0.6 0.5 0.55 0.5073 0.4462 0.4619 0.6077 0.5474 0.4970 0.5220 0.5501 0.48 0.44 0.5 0.43 0.48 rs9958735 COSM3756178 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5078 0.4409 0.4570 0.5008 0.6090 0.5519 0.4956 0.5160 0.5528 0.4919 0.4480 0.4580 0.4570 0.6130 0.5559 0.4910 0.5092 het 2500.99 161 18 56247180 . T C 2500.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.153;DP=161;Dels=0.00;FS=9.044;HRun=0;HaplotypeScore=2.7269;MQ=59.71;MQ0=0;MQRankSum=0.177;QD=15.53;ReadPosRankSum=2.672;VQSLOD=3.6369;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,81:161:99:2531,0,2190 18 56247567 56247567 A G exonic ALPK2 synonymous SNV ALPK2:NM_052947:exon4:c.T441C:p.Y147Y 0.48 0.33 0.48 0.6 0.5 0.55 0.5003 0.3648 0.4576 0.6072 0.5472 0.4966 0.5200 0.5500 0.45 0.36 0.5 0.41 0.45 rs9956630 COSM3756179 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5017 0.3568 0.4533 0.5008 0.6086 0.5519 0.4951 0.5111 0.5527 0.4685 0.3678 0.4474 0.4570 0.6103 0.5556 0.4906 0.5010 het 4178.91 205 18 56247567 . A G 4178.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.214;DP=205;Dels=0.00;FS=1.121;HRun=0;HaplotypeScore=3.5305;MQ=59.80;MQ0=0;MQRankSum=0.178;QD=20.38;ReadPosRankSum=-1.581;VQSLOD=4.5997;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,120:205:99:3618,0,2237 18 56247600 56247600 C A exonic ALPK2 nonsynonymous SNV ALPK2:NM_052947:exon4:c.G408T:p.R136S 0.48 0.33 0.48 0.6 0.5 0.55 0.5001 0.3645 0.4574 0.6059 0.5470 0.4965 0.5200 0.5498 0.45 0.35 0.5 0.41 0.45 rs9944810 COSM3756180 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.24 0.008 N 1.1 0.390 T 1.64 0.006 N 0.031 0.012 -0.943 0.421 T 0.000 0.000 T . . . -1.119 0.028 0.009 0.279 0.014 0.010 0.038 N c -1.671 -1.698 1.000 0.747 0.497 0.185 0 -6.19 0.019 -0.577 0.059 -0.679 0.039 0.000 0.063 0.000 0.016 3.377 0.068 . . . 0.5016 0.3567 0.4532 0.5008 0.6085 0.5518 0.4950 0.5111 0.5527 0.4685 0.3674 0.4475 0.4570 0.6120 0.5562 0.4904 0.5031 het 4139.28 249 18 56247600 . C A 4139.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.035;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5547;MQ=58.94;MQ0=0;MQRankSum=1.034;QD=16.62;ReadPosRankSum=0.138;VQSLOD=5.5052;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,126:249:99:3510,0,3262 18 56279025 56279025 T G exonic ALPK2 nonsynonymous SNV ALPK2:NM_052947:exon2:c.A5C:p.K2T 0.94 0.98 0.91 1. 0.82 0.97 0.8647 0.9626 0.9089 0.9998 0.8750 0.8013 0.8778 0.9570 0.84 0.95 0.79 0.95 0.51 rs6566987 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.975 0.012 N 1.2 0.374 T 2.49 0.002 N 0.027 0.009 -0.956 0.399 T 0.000 0.000 T . . . 0.152 0.108 4.165 0.658 0.077 0.013 0.044 N c -1.143 -0.990 1.000 0.747 0.554 0.283 0 3.9 0.441 1.248 0.322 0.136 0.221 0.139 0.233 0.958 0.437 6.293 0.201 . . . 0.8618 0.9636 0.9046 0.7732 0.9999 0.8790 0.7984 0.8456 0.9586 0.8665 0.9601 0.8852 0.77 0.9994 0.8717 0.7969 0.8469 het 551.50 38 18 56279025 . T G 551.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.967;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=58.23;MQ0=0;MQRankSum=-0.323;QD=14.51;ReadPosRankSum=0.822;VQSLOD=6.4055;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,21:38:99:581,0,478 18 56648756 56648756 C T exonic ZNF532 synonymous SNV ZNF532:NM_001318726:exon9:c.C3318T:p.H1106H,ZNF532:NM_001318727:exon9:c.C3318T:p.H1106H,ZNF532:NM_001318728:exon10:c.C3318T:p.H1106H,ZNF532:NM_018181:exon10:c.C3318T:p.H1106H 0.065 0.0061 0.052 0.019 0.13 0.14 0.1218 0.0208 0.0457 0.0145 0.2021 0.1510 0.1333 0.1445 0.097 0.024 0.13 0.054 0.18 rs61733373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1201 0.0188 0.0440 0.2177 0.0160 0.2037 0.1397 0.1310 0.1466 0.1135 0.0228 0.0585 0.2133 0.0191 0.2135 0.1510 0.1656 het 4183.41 236 18 56648756 . C T 4183.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.427;DP=236;DS;Dels=0.00;FS=5.105;HRun=0;HaplotypeScore=5.4336;MQ=59.71;MQ0=0;MQRankSum=-0.205;QD=17.73;ReadPosRankSum=0.259;VQSLOD=3.5002;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,123:236:99:3538,0,2870 18 56936395 56936395 T C exonic RAX synonymous SNV RAX:NM_013435:exon3:c.A882G:p.Q294Q 0.23 0.24 0.17 0.13 0.3 0.28 0.3229 0.3263 0.2107 0.1997 0.28 0.3652 0.3207 0.2955 0.21 0.18 0.22 0.065 0.082 rs7226481 COSM438275 3(thyroid);2(large_intestine) Benign|Likely benign not_specified|Anophthalmia/Microphthalmia RCV000249691.1|RCV000303566.1 MedGen|MedGen CN169374|CN239484 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2384 0.2534 0.1401 0.2713 0.1286 0.2101 0.2880 0.2422 0.2601 0.2569 0.2633 0.1792 0.2828 0.1071 0.1995 0.2873 0.2469 het 90.82 19 18 56936395 . T C 90.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.324;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7753;MQ=57.53;MQ0=0;MQRankSum=0.972;QD=4.78;ReadPosRankSum=-0.231;VQSLOD=2.2846;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,5:19:99:121,0,449 18 57022754 57022754 T C exonic LMAN1 synonymous SNV LMAN1:NM_005570:exon2:c.A351G:p.R117R 0.17 0.18 0.27 0.031 0.25 0.17 0.2216 0.1990 0.2111 0.0287 0.1987 0.2627 0.2104 0.1878 0.24 0.2 0.26 0.18 0.26 rs1127220 COSM5619326 1(breast);1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Combined_deficiency_of_factor_V_and_factor_VIII\x2c_1 RCV000251338.1|RCV000278265.1 MedGen|MedGen:OMIM CN169374|C1856883:227300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2211 0.2006 0.2142 0.2501 0.0271 0.1989 0.2649 0.2402 0.1918 0.2237 0.2068 0.2309 0.2219 0.0284 0.2037 0.2590 0.2235 het 1180.76 97 18 57022754 . T C 1180.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.471;DP=97;Dels=0.00;FS=2.639;HRun=1;HaplotypeScore=0.9967;MQ=58.35;MQ0=0;MQRankSum=-0.372;QD=12.17;ReadPosRankSum=-0.141;VQSLOD=5.4304;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,51:97:99:1211,0,1096 18 59166541 59166541 C T exonic CDH20 synonymous SNV CDH20:NM_031891:exon3:c.C369T:p.D123D 0.62 0.62 0.56 0.54 0.65 0.73 0.6538 0.6343 0.5939 0.5256 0.6010 0.6641 0.6424 0.7539 0.66 0.64 0.67 0.56 0.64 rs12964819 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6470 0.6322 0.5869 0.6371 0.5233 0.6053 0.6669 0.6559 0.7485 0.6270 0.6249 0.5634 0.6391 0.4876 0.6099 0.6488 0.6531 hom 2330.67 79 18 59166541 . C T 2330.67 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1981;MQ=59.71;MQ0=0;QD=29.50;VQSLOD=8.0510;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2364,199,0 18 59170304 59170304 C G exonic CDH20 synonymous SNV CDH20:NM_031891:exon5:c.C780G:p.V260V 1. 0.98 1. 1. 1. 1. 0.9987 0.9853 0.9996 1 1 0.9999 1 1 1. 0.99 1. 0.99 0.98 rs595093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9989 0.9848 0.9993 1 1 1 0.9999 0.9987 1 0.9958 0.9855 1 1 1 1 0.9999 1 hom 7945.80 249 18 59170304 . C G 7945.80 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2943;MQ=59.40;MQ0=0;QD=31.91;VQSLOD=7.1067;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7945,620,0 18 59174759 59174759 C A exonic CDH20 nonsynonymous SNV CDH20:NM_031891:exon6:c.C983A:p.P328H 0.059 0.012 0.079 0.032 0.15 0.048 0.1036 0.0234 0.0602 0.0258 0.1411 0.1377 0.1200 0.0716 0.1 0.028 0.14 0.033 0.17 rs1943330 COSM5019486 7(soft_tissue);1(skin) . . . . . . . . . . . 0.096 0.310 T 0.999 0.764 D 0.981 0.736 D 0.000 0.843 D 0.001 0.458 P 1.94 0.524 M 0.61 0.535 T -1.27 0.320 N 0.437 0.501 -1.047 0.152 T 0.004 0.012 T . . . 4.926 0.662 25.0 0.996 0.710 0.944 0.607 D c 0.648 0.605 0.016 0.128 0.487 0.133 0 4.89 0.632 3.975 0.563 0.020 0.144 1.000 0.715 0.987 0.523 16.427 0.836 Cadherin|Cadherin-like . . 0.1030 0.0227 0.0635 0.1014 0.0261 0.1364 0.1388 0.1236 0.0707 0.0942 0.0277 0.0719 0.1026 0.0297 0.1434 0.1277 0.1235 het 1417.41 105 18 59174759 . C A 1417.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.860;DP=105;Dels=0.00;FS=1.648;HRun=0;HaplotypeScore=4.0144;MQ=59.78;MQ0=0;MQRankSum=0.375;QD=13.50;ReadPosRankSum=-0.003;VQSLOD=6.0520;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,55:105:99:1447,0,1389 18 59483202 59483202 G C exonic RNF152 synonymous SNV RNF152:NM_173557:exon2:c.C495G:p.T165T 0.022 0.011 0.019 . 0.075 0.01 0.0468 0.0233 0.0136 0.0003 0.1113 0.0634 0.0653 0.0152 0.05 0.026 0.063 0.011 0.041 rs4538107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0467 0.0233 0.0158 0.0308 0.0001 0.1095 0.0639 0.0496 0.0149 0.0554 0.0256 0.0263 0.0331 0.0006 0.1171 0.0652 0.0743 hom 4725.19 161 18 59483202 . G C 4725.19 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3333;MQ=59.02;MQ0=0;QD=29.35;VQSLOD=4.9998;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,160:161:99:4688,403,0 18 59483310 59483310 G A exonic RNF152 synonymous SNV RNF152:NM_173557:exon2:c.C387T:p.S129S 0.022 0.011 0.019 . 0.075 0.01 0.0473 0.0234 0.0137 0.0003 0.1125 0.0642 0.0665 0.0154 0.051 0.025 0.064 0.011 0.041 rs4362478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0473 0.0236 0.0159 0.0307 0.0001 0.1104 0.0649 0.0500 0.0151 0.0574 0.0255 0.0263 0.0331 0.0006 0.1183 0.0686 0.0794 hom 2304.75 69 18 59483310 . G A 2304.75 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.579;DP=69;Dels=0.00;FS=4.578;HRun=0;HaplotypeScore=0.6651;MQ=59.25;MQ0=0;MQRankSum=-1.121;QD=33.40;ReadPosRankSum=1.019;VQSLOD=3.8072;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,67:69:99:2338,156,0 18 59483508 59483508 G T exonic RNF152 synonymous SNV RNF152:NM_173557:exon2:c.C189A:p.G63G 0.022 0.011 0.019 . 0.075 0.01 0.0467 0.0231 0.0136 0.0003 0.1105 0.0633 0.0654 0.0152 0.05 0.025 0.063 0.011 0.033 rs116886631 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0466 0.0233 0.0158 0.0308 0.0001 0.1090 0.0638 0.0496 0.0149 0.0553 0.0256 0.0263 0.0331 0.0006 0.1171 0.0649 0.0746 hom 1866.74 61 18 59483508 . G T 1866.74 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.16;MQ0=0;QD=30.60;VQSLOD=8.4867;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1900,159,0 18 59483514 59483514 A G exonic RNF152 synonymous SNV RNF152:NM_173557:exon2:c.T183C:p.P61P 0.22 0.33 0.19 0.099 0.25 0.16 0.2184 0.3083 0.1948 0.0998 0.2252 0.2387 0.2152 0.1564 0.26 0.3 0.24 0.33 0.2 rs9319985 COSM1389397 1(breast);1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2161 0.3142 0.1986 0.2739 0.1019 0.2177 0.2361 0.2220 0.1572 0.2448 0.3000 0.2053 0.2583 0.1012 0.2257 0.2359 0.2245 hom 1869.40 56 18 59483514 . A G 1869.40 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.42;MQ0=0;QD=33.38;VQSLOD=8.4651;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1902,150,0 18 59768375 59768375 A G exonic PIGN synonymous SNV PIGN:NM_012327:exon21:c.T2010C:p.T670T,PIGN:NM_176787:exon22:c.T2010C:p.T670T 0.096 0.014 0.12 0.0069 0.27 0.098 0.1763 0.0494 0.1045 0.0039 0.2383 0.2389 0.1879 0.1118 0.19 0.057 0.25 0.087 . rs17714063 . . Benign not_specified RCV000454674.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1778 0.0460 0.1076 0.2545 0.0028 0.2411 0.2426 0.1989 0.1108 0.1681 0.0490 0.1277 0.2483 0.0031 0.2364 0.2378 0.2014 het 1423.22 113 18 59768375 . A G 1423.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.856;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=58.85;MQ0=1;MQRankSum=-0.623;QD=12.59;ReadPosRankSum=-0.535;VQSLOD=6.4998;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,55:113:99:1453,0,1481 18 59770033 59770033 C T exonic PIGN synonymous SNV PIGN:NM_012327:exon20:c.G1962A:p.L654L,PIGN:NM_176787:exon21:c.G1962A:p.L654L 0.095 0.014 0.12 0.0069 0.27 0.098 0.2338 0.0720 0.2470 0.0113 0.2900 0.3148 0.2288 0.1281 0.19 0.057 0.24 0.087 . rs12326381 COSM3756182 1(large_intestine) Benign not_specified RCV000455053.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1655 0.0399 0.0997 0.2454 0.0028 0.2309 0.2247 0.1907 0.1026 0.1685 0.0490 0.1280 0.2483 0.0031 0.2368 0.2387 0.2006 het 59.21 10 18 59770033 . C T 59.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.383;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=0.741;QD=5.92;ReadPosRankSum=-1.447;VQSLOD=4.7790;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:89.21:89,0,171 18 59774037 59774037 C T exonic PIGN synonymous SNV PIGN:NM_012327:exon18:c.G1752A:p.L584L,PIGN:NM_176787:exon19:c.G1752A:p.L584L 0.093 0.0061 0.12 0.0069 0.27 0.098 0.2197 0.0584 0.1538 0.0064 0.2801 0.2842 0.2434 0.1378 0.18 0.05 0.25 0.087 . rs9319997 COSM3756183 1(large_intestine) Benign not_specified RCV000455889.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1733 0.0393 0.1060 0.2519 0.0028 0.2362 0.2362 0.1973 0.1082 0.1671 0.0447 0.1280 0.2483 0.0031 0.2363 0.2384 0.1996 het 450.38 41 18 59774037 . C T 450.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.004;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;MQRankSum=-0.456;QD=10.98;ReadPosRankSum=-2.282;VQSLOD=5.5996;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:480,0,610 18 59780424 59780424 A G exonic PIGN synonymous SNV PIGN:NM_012327:exon15:c.T1377C:p.S459S,PIGN:NM_176787:exon16:c.T1377C:p.S459S 0.093 0.0061 0.12 0.0069 0.27 0.098 0.1851 0.0475 0.1147 0.0043 0.2406 0.2486 0.1962 0.1177 0.19 0.052 0.25 0.087 . rs17714875 COSM3756185 1(breast);1(large_intestine) Benign not_specified RCV000454642.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1776 0.0403 0.1072 0.2547 0.0028 0.2399 0.2429 0.1989 0.1111 0.1668 0.0446 0.1277 0.2483 0.0031 0.2360 0.2383 0.1947 het 438.30 32 18 59780424 . A G 438.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DP=32;Dels=0.00;FS=3.393;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.433;QD=13.70;ReadPosRankSum=-1.376;VQSLOD=6.1835;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,16:32:99:468,0,456 18 59814268 59814268 G A exonic PIGN synonymous SNV PIGN:NM_012327:exon8:c.C741T:p.H247H,PIGN:NM_176787:exon9:c.C741T:p.H247H 0.59 0.38 0.68 0.7 0.63 0.66 0.6135 0.4329 0.7173 0.6685 0.6074 0.6115 0.6211 0.6299 0.57 0.45 0.62 0.59 . rs9320000 COSM3756187 1(large_intestine) Benign not_specified RCV000455462.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6215 0.4282 0.7119 0.6415 0.6798 0.6033 0.6119 0.6260 0.6272 0.5602 0.4274 0.7026 0.6324 0.6880 0.6091 0.6014 0.5827 hom 1353.78 44 18 59814268 . G A 1353.78 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=30.77;VQSLOD=9.2421;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1387,108,0 18 59814324 59814324 G C exonic PIGN nonsynonymous SNV PIGN:NM_012327:exon8:c.C685G:p.H229D,PIGN:NM_176787:exon9:c.C685G:p.H229D 0.85 0.89 0.79 0.93 0.74 0.85 0.7845 0.8709 0.8227 0.9052 0.7485 0.7370 0.7904 0.8476 0.79 0.88 0.75 0.87 . rs9320001 COSM5428048 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000456027.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.426 N 1.000 0.201 P -1.22 0.008 N -0.36 0.688 T 0.01 0.069 N 0.024 0.010 -0.980 0.350 T 0.000 0.000 T . . . -0.139 0.081 1.457 0.649 0.074 0.031 0.080 N c -0.793 -0.585 0.082 0.159 0.651 0.465 0 3.71 0.416 1.891 0.391 -0.439 0.057 0.998 0.411 0.631 0.295 7.585 0.270 Alkaline phosphatase-like\x2c alpha/beta/alpha|Alkaline-phosphatase-like\x2c core domain ENSG00000197563.5|ENSG00000197563.5|ENSG00000197563.5|ENSG00000197563.5|ENSG00000197563.5|ENSG00000197563.5|ENSG00000141655.11|ENSG00000197563.5|ENSG00000197563.5|ENSG00000197563.5|ENSG00000197563.5|ENSG00000141655.11|ENSG00000197563.5|ENSG00000197563.5|ENSG00000197563.5 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.7877 0.8732 0.8260 0.8213 0.9123 0.7453 0.7343 0.7801 0.8468 0.7896 0.8731 0.8221 0.8444 0.9197 0.7527 0.7350 0.7531 hom 656.94 23 18 59814324 . G C 656.94 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.56;VQSLOD=13.1036;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:51.17:690,51,0 18 59936142 59936142 C T exonic KIAA1468 synonymous SNV KIAA1468:NM_001346229:exon20:c.C2721T:p.V907V,KIAA1468:NM_001346231:exon20:c.C2721T:p.V907V,KIAA1468:NM_001346232:exon20:c.C2721T:p.V907V,KIAA1468:NM_001346233:exon20:c.C2709T:p.V903V,KIAA1468:NM_001346234:exon20:c.C2721T:p.V907V,KIAA1468:NM_020854:exon20:c.C2721T:p.V907V,KIAA1468:NM_001346230:exon21:c.C2745T:p.V915V,KIAA1468:NM_001346235:exon22:c.C984T:p.V328V 0.091 0.0061 0.12 0.002 0.27 0.1 0.1773 0.0459 0.1078 0.0010 0.2383 0.2411 0.1964 0.1162 0.17 0.048 0.24 0.054 0.22 rs17645999 COSM3756189;COSM3756188 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1677 0.0362 0.0939 0.2460 0.0010 0.2338 0.2233 0.1883 0.1050 0.1612 0.0431 0.1214 0.2467 0.0013 0.2324 0.2289 0.1973 het 385.87 52 18 59936142 . C T 385.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.263;DP=52;Dels=0.00;FS=4.513;HRun=1;HaplotypeScore=0.0000;MQ=56.22;MQ0=0;MQRankSum=1.385;QD=7.42;ReadPosRankSum=0.000;VQSLOD=2.5665;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,17:52:99:416,0,777 18 60021667 60021667 C T exonic TNFRSF11A synonymous SNV TNFRSF11A:NM_001270949:exon4:c.C327T:p.P109P,TNFRSF11A:NM_001270950:exon4:c.C327T:p.P109P,TNFRSF11A:NM_001270951:exon4:c.C327T:p.P109P,TNFRSF11A:NM_001278268:exon4:c.C327T:p.P109P,TNFRSF11A:NM_003839:exon4:c.C327T:p.P109P 0.0028 0.0008 0.0014 0.001 0.011 . 0.0066 0.0004 0.0025 0 0.0024 0.0098 0.0083 0.0053 0.0042 0.0009 0.0058 . . rs35003467 COSM3692167 1(large_intestine) other not_specified RCV000178199.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0054 0.0008 0.0020 0.0113 0 0.0017 0.0084 0.0058 0.0045 0.0049 0.0014 0.0024 0.0033 0 0.0023 0.0081 0.0081 het 217.87 21 18 60021667 . C T 217.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.036;DP=21;Dels=0.00;FS=2.086;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=0.036;QD=10.37;ReadPosRankSum=0.178;VQSLOD=5.8309;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,9:21:99:248,0,365 18 60021761 60021761 C T exonic TNFRSF11A nonsynonymous SNV TNFRSF11A:NM_001270949:exon4:c.C421T:p.H141Y,TNFRSF11A:NM_001270950:exon4:c.C421T:p.H141Y,TNFRSF11A:NM_001270951:exon4:c.C421T:p.H141Y,TNFRSF11A:NM_001278268:exon4:c.C421T:p.H141Y,TNFRSF11A:NM_003839:exon4:c.C421T:p.H141Y 0.057 0.0038 0.091 0.001 0.17 0.044 0.1211 0.0312 0.0830 0.0004 0.1176 0.1752 0.1146 0.0495 0.13 0.034 0.18 0.022 0.2 rs35211496 COSM438291 4(soft_tissue);1(large_intestine) Likely benign|Likely benign|Benign Paget_disease_of_bone|Osteopetrosis|not_specified RCV000269060.1|RCV000363657.1|RCV000454965.1 MedGen:Orphanet:SNOMED_CT|Human_Phenotype_Ontology:MedGen|MedGen C0029401:ORPHA280110:2089002|HP:0011002:C0029454|CN169374 . . . . . . 0.042 0.416 D 0.516 0.356 P 0.046 0.233 B 0.082 0.024 U 0.978 0.253 P 2.24 0.636 M 0.04 0.621 T -3.85 0.723 D 0.067 0.175 -1.099 0.042 T 0.000 0.002 T . . . 4.414 0.591 24.1 0.986 0.430 0.835 0.423 D c -0.105 -0.003 1.000 0.425 0.696 0.567 0 3.12 0.348 2.232 0.424 0.935 0.490 0.925 0.319 0.994 0.587 9.987 0.408 TNFR/NGFR cysteine-rich region . . 0.1194 0.0278 0.0867 0.1875 0.0006 0.1172 0.1767 0.1361 0.0491 0.1122 0.0325 0.0967 0.1722 0.0019 0.1139 0.1686 0.1296 het 748.76 71 18 60021761 . C T 748.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.162;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.47;MQ0=0;MQRankSum=0.006;QD=10.55;ReadPosRankSum=-0.443;VQSLOD=6.6761;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,34:71:99:779,0,937 18 60027241 60027241 C T exonic TNFRSF11A nonsynonymous SNV TNFRSF11A:NM_001270949:exon6:c.C575T:p.A192V,TNFRSF11A:NM_001270950:exon6:c.C575T:p.A192V,TNFRSF11A:NM_001270951:exon6:c.C575T:p.A192V,TNFRSF11A:NM_001278268:exon6:c.C533T:p.A178V,TNFRSF11A:NM_003839:exon6:c.C575T:p.A192V 0.59 0.67 0.65 0.68 0.53 0.42 0.5368 0.6452 0.6715 0.6939 0.5399 0.5112 0.5308 0.3944 0.55 0.63 0.51 0.64 0.43 rs1805034 . . Benign|Likely benign|Likely benign not_specified|Osteopetrosis|Paget_disease_of_bone RCV000252411.1|RCV000280881.1|RCV000338163.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:Orphanet:SNOMED_CT CN169374|HP:0011002:C0029454|C0029401:ORPHA280110:2089002 . . . . . . 1.0 0.010 T 0.051 0.210 B 0.006 0.112 B 0.211 0.164 N 1.000 0.198 P -0.815 0.015 N -0.37 0.689 T 1.41 0.008 N 0.032 0.012 -0.934 0.436 T 0.000 0.000 T . . . 1.537 0.247 13.51 0.195 0.007 0.032 0.081 N c -0.750 -0.565 0.873 0.254 0.707 0.730 0 2.62 0.302 0.391 0.204 0.087 0.193 0.998 0.411 0.924 0.398 7.304 0.254 TNFR/NGFR cysteine-rich region . . 0.5433 0.6470 0.6640 0.5502 0.6980 0.5329 0.5101 0.5534 0.3977 0.5618 0.6404 0.6647 0.5067 0.6934 0.5249 0.5064 0.5509 het 1454.02 136 18 60027241 . C T 1454.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.297;DP=136;Dels=0.00;FS=0.656;HRun=0;HaplotypeScore=4.6877;MQ=58.72;MQ0=0;MQRankSum=1.056;QD=10.69;ReadPosRankSum=-0.356;VQSLOD=5.7756;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,60:136:99:1484,0,1812 18 60036083 60036083 A G exonic TNFRSF11A synonymous SNV TNFRSF11A:NM_001278268:exon9:c.A891G:p.T297T,TNFRSF11A:NM_003839:exon9:c.A933G:p.T311T 0.98 1. 0.99 1. 0.95 0.96 0.9562 0.9904 0.9845 1 0.9617 0.9387 0.9493 0.9609 0.95 0.99 0.94 0.98 0.91 rs8092336 . . Benign|Likely benign|Likely benign not_specified|Osteopetrosis|Paget_disease_of_bone RCV000244029.1|RCV000306408.1|RCV000344991.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:Orphanet:SNOMED_CT CN169374|HP:0011002:C0029454|C0029401:ORPHA280110:2089002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9577 0.9911 0.9839 0.9601 0.9999 0.9621 0.9371 0.9592 0.9596 0.9566 0.9898 0.9714 0.9437 1 0.9608 0.9308 0.9612 hom 7886.18 250 18 60036083 . A G 7886.18 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2839;MQ=58.99;MQ0=0;QD=31.54;VQSLOD=5.5980;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7885,653,0 18 60227833 60227833 T C exonic ZCCHC2 synonymous SNV ZCCHC2:NM_017742:exon8:c.T1506C:p.H502H 0.11 0.23 0.091 0.003 0.11 0.084 0.1116 0.2283 0.0563 0.0005 0.0791 0.1199 0.1192 0.1179 0.15 0.22 0.11 0.18 . rs17070100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1094 0.2288 0.0656 0.2024 0.0005 0.0822 0.1167 0.1216 0.1203 0.1309 0.2268 0.0728 0.1457 0.0006 0.0859 0.1049 0.0959 het 1595.72 134 18 60227833 . T C 1595.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.779;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4707;MQ=59.09;MQ0=0;MQRankSum=0.389;QD=11.91;ReadPosRankSum=1.182;VQSLOD=4.6657;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,68:134:99:1626,0,1600 18 60237388 60237388 A G exonic ZCCHC2 synonymous SNV ZCCHC2:NM_017742:exon12:c.A1899G:p.S633S 0.87 0.99 0.8 1. 0.64 0.87 0.7582 0.9460 0.8232 0.9980 0.7165 0.6703 0.7290 0.8420 0.74 0.93 0.66 0.89 . rs8096750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7510 0.9463 0.8124 0.7316 0.9980 0.7099 0.6545 0.7245 0.8372 0.7715 0.9365 0.7757 0.7053 0.9981 0.7139 0.6689 0.7169 het 313.23 32 18 60237388 . A G 313.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.551;DP=32;Dels=0.00;FS=1.419;HRun=1;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-0.703;QD=9.79;ReadPosRankSum=-0.779;VQSLOD=5.4934;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,14:32:99:343,0,514 18 60562298 60562298 A T exonic PHLPP1 synonymous SNV PHLPP1:NM_194449:exon5:c.A2121T:p.P707P 0.49 0.52 0.54 0.36 0.58 0.43 0.5547 0.5267 0.4996 0.3819 0.5628 0.6125 0.5795 0.4596 0.59 0.53 0.61 0.58 . rs624821 COSM4417818;COSM4417817;COSM4417819 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5486 0.5148 0.4978 0.6741 0.3747 0.5499 0.6086 0.5827 0.4532 0.5775 0.5394 0.5346 0.7285 0.3595 0.5576 0.6255 0.6006 hom 1472.38 45 18 60562298 . A T 1472.38 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;QD=32.72;VQSLOD=9.1922;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1505,114,0 18 61022791 61022791 C T exonic KDSR synonymous SNV KDSR:NM_002035:exon4:c.G261A:p.V87V 0.56 0.44 0.66 0.43 0.65 0.68 0.6270 0.4772 0.6080 0.4527 0.6603 0.6583 0.6581 0.6867 0.6 0.49 0.66 0.49 0.61 rs2003149 COSM148435 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6279 0.4814 0.6216 0.6272 0.4588 0.6594 0.6570 0.6346 0.6783 0.6046 0.4915 0.6110 0.5828 0.4660 0.6640 0.6682 0.6561 het 708.95 63 18 61022791 . C T 708.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.080;DP=63;Dels=0.00;FS=1.179;HRun=0;HaplotypeScore=1.7552;MQ=58.00;MQ0=0;MQRankSum=-0.034;QD=11.25;ReadPosRankSum=1.368;VQSLOD=5.2330;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,31:63:99:739,0,838 18 61170925 61170925 T C exonic SERPINB5 synonymous SNV SERPINB5:NM_002639:exon7:c.T1098C:p.I366I 1. 1. 1. 1. 1. 1. 0.9976 0.9994 0.9996 1 0.9994 0.9962 0.9989 0.9988 1. 1. 1. 1. 0.99 rs8093128 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9978 0.9993 0.9997 0.9982 1 0.9991 0.9960 0.9991 0.9987 0.9979 0.9995 1 0.9967 1 1 0.9961 0.9990 hom 6939.93 226 18 61170925 . T C 6939.93 Mask AC=2;AF=1.00;AN=2;DP=226;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.87;MQ0=1;QD=30.71;VQSLOD=7.8715;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:6939,518,0 18 61264298 61264298 G A exonic SERPINB13 nonsynonymous SNV SERPINB13:NM_001348269:exon6:c.G340A:p.G114S,SERPINB13:NM_001348270:exon6:c.G340A:p.G114S,SERPINB13:NM_001348267:exon7:c.G469A:p.G157S,SERPINB13:NM_001307923:exon8:c.G904A:p.G302S,SERPINB13:NM_012397:exon8:c.G877A:p.G293S,SERPINB13:NM_001348268:exon9:c.G469A:p.G157S 0.86 0.96 0.79 0.88 0.81 0.82 0.8075 0.9349 0.7545 0.8769 0.8272 0.7921 0.7753 0.7840 0.84 0.93 0.79 0.89 0.75 rs1020694 . . . . . . . . . . . . . 1.0 0.010 T 0.003 0.102 B 0.001 0.040 B 0.481 0.122 N 1 0.090 P -1.935 0.002 N -1.6 0.822 D 3.13 0.001 N 0.007 0.001 -0.957 0.398 T 0.000 0.000 T . . . -0.464 0.058 0.270 0.438 0.033 0.004 0.021 N c -1.675 -1.543 0.048 0.148 0.487 0.133 0 2.85 0.322 1.691 0.371 -0.770 0.033 0.001 0.137 0.011 0.114 4.798 0.126 Serpin domain ENSG00000197641.7|ENSG00000206072.8|ENSG00000057149.10 Esophagus_Mucosa|Testis|Testis 0.8031 0.9373 0.7671 0.6934 0.8784 0.8236 0.7960 0.7767 0.7844 0.8430 0.9372 0.7661 0.6533 0.8821 0.8293 0.7967 0.8204 hom 6813.87 220 18 61264298 . G A 6813.87 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8803;MQ=59.54;MQ0=0;QD=30.97;VQSLOD=7.1482;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:6813,521,0 18 61264468 61264468 C T exonic SERPINB13 synonymous SNV SERPINB13:NM_001348269:exon6:c.C510T:p.T170T,SERPINB13:NM_001348270:exon6:c.C510T:p.T170T,SERPINB13:NM_001348267:exon7:c.C639T:p.T213T,SERPINB13:NM_001307923:exon8:c.C1074T:p.T358T,SERPINB13:NM_012397:exon8:c.C1047T:p.T349T,SERPINB13:NM_001348268:exon9:c.C639T:p.T213T 0.79 0.69 0.78 0.88 0.8 0.82 0.7870 0.7276 0.7454 0.8772 0.8224 0.7899 0.7676 0.7818 0.77 0.73 0.79 0.74 0.72 rs1020693 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7861 0.7241 0.7561 0.6839 0.8783 0.8181 0.7940 0.7681 0.7820 0.7834 0.7350 0.7518 0.6367 0.8807 0.8240 0.7948 0.8051 hom 3691.15 110 18 61264468 . C T 3691.15 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9782;MQ=60.00;MQ0=0;QD=33.56;VQSLOD=8.6997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3691,289,0 18 61377579 61377579 A C exonic SERPINB11 unknown UNKNOWN 0.83 0.8 0.86 0.9 0.81 0.81 0.8364 0.7915 0.9005 0.9043 0.8254 0.8291 0.8359 0.8164 0.82 0.8 0.83 0.84 . rs1395268 COSM4154001;COSM4154002 1(kidney) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 1.000 0.588 P . . . -1.73 0.833 D 2.11 0.004 N 0.025 0.081 -0.937 0.431 T 0.000 0.000 T . . . -0.748 0.043 0.056 0.107 0.001 0.017 0.053 N c -0.885 -0.824 0.000 0.058 0.061 0.009 0 4.25 0.495 0.694 0.250 0.067 0.174 0.001 0.137 0.687 0.306 10.287 0.426 Serpin domain . . 0.8365 0.7891 0.8884 0.7995 0.9015 0.8301 0.8273 0.8293 0.8186 0.8258 0.7925 0.8696 0.8212 0.9078 0.8337 0.8323 0.8238 hom 3383.48 118 18 61377579 . A C 3383.48 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;QD=28.67;VQSLOD=7.8925;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3383,250,0 18 61390316 61390316 C A exonic SERPINB11 synonymous SNV SERPINB11:NM_001291279:exon7:c.C337A:p.R113R 0.72 0.63 0.73 0.85 0.74 0.69 0.7257 0.6439 0.7585 0.8425 0.7513 0.7255 0.7143 0.6863 0.7 0.65 0.72 0.75 . rs1395265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7245 0.6342 0.7472 0.7153 0.8427 0.7527 0.7190 0.7177 0.6805 0.7096 0.6410 0.7249 0.75 0.8486 0.7514 0.7233 0.7057 hom 615.83 18 18 61390316 . C A 615.83 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=34.21;VQSLOD=9.3967;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:51.16:649,51,0 18 61390332 61390332 C T exonic SERPINB11 nonsynonymous SNV SERPINB11:NM_001291279:exon7:c.C353T:p.T118I 0.72 0.63 0.73 0.85 0.74 0.69 0.7209 0.6367 0.7508 0.8375 0.7481 0.7214 0.7113 0.6834 0.7 0.65 0.72 0.75 . rs1395266 COSM4131061;COSM4131060 1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.251 0.155 N 1 0.090 P . . . -1.87 0.844 D -1.11 0.287 N 0.005 0.061 -0.976 0.358 T 0.000 0.000 T . . . -0.354 0.065 0.497 0.637 0.071 0.013 0.044 N c -1.229 -1.280 0.075 0.157 0.056 0.006 0 -0.96 0.098 2.206 0.422 0.056 0.163 0.012 0.185 0.427 0.259 7.571 0.269 Serpin domain ENSG00000242550.1 Whole_Blood 0.7230 0.6310 0.7457 0.7151 0.8414 0.7518 0.7174 0.7196 0.6792 0.7094 0.6407 0.7249 0.7450 0.8480 0.7511 0.7233 0.7057 hom 558.12 17 18 61390332 . C T 558.12 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=32.83;VQSLOD=9.9191;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:591,48,0 18 61390361 61390361 T C exonic SERPINB11 nonsynonymous SNV SERPINB11:NM_001291279:exon7:c.T382C:p.S128P 0.75 0.72 0.73 0.88 0.74 0.71 0.7356 0.7174 0.7627 0.8719 0.7451 0.7249 0.7136 0.7013 0.73 0.73 0.72 0.79 . rs1395267 COSM4997967;COSM4997966 1(pancreas) . . . . . . . . . . . . . . 0.958 0.530 D 0.466 0.478 P 0.002 0.369 N 1 0.090 P . . . -1.71 0.832 D -1.71 0.406 N 0.092 0.182 -0.989 0.329 T 0.000 0.000 T . . . 2.851 0.403 21.6 0.984 0.401 0.123 0.170 N c -0.252 -0.381 0.151 0.174 0.056 0.006 0 2.28 0.275 0.427 0.209 0.913 0.425 0.000 0.063 0.955 0.433 7.360 0.258 Serpin domain ENSG00000242550.1 Whole_Blood 0.7334 0.7148 0.7510 0.7122 0.8709 0.7490 0.7187 0.7205 0.6975 0.7330 0.7216 0.7302 0.7533 0.8807 0.7474 0.7221 0.7039 hom 499.98 18 18 61390361 . T C 499.98 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.78;VQSLOD=13.4610;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:39.13:533,39,0 18 61390570 61390570 T G exonic SERPINB11 synonymous SNV SERPINB11:NM_001291279:exon7:c.T591G:p.L197L 0.7 0.56 0.72 0.85 0.74 0.7 0.7207 0.5816 0.7585 0.8486 0.7474 0.7239 0.7151 0.6869 0.68 0.6 0.72 0.7 . rs953695 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7229 0.5765 0.7468 0.7119 0.8455 0.7526 0.7222 0.7154 0.6863 0.6907 0.5747 0.7196 0.7450 0.8498 0.7504 0.7237 0.7010 hom 6836.21 213 18 61390570 . T G 6836.21 Mask AC=2;AF=1.00;AN=2;DP=213;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5890;MQ=59.50;MQ0=0;QD=32.09;VQSLOD=9.0868;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,213:213:99:6836,521,0 18 61471523 61471523 G A exonic SERPINB7 nonsynonymous SNV SERPINB7:NM_001261831:exon7:c.G746A:p.R249Q,SERPINB7:NM_001040147:exon8:c.G797A:p.R266Q,SERPINB7:NM_001261830:exon8:c.G797A:p.R266Q,SERPINB7:NM_003784:exon8:c.G797A:p.R266Q 0.16 0.079 0.23 0.11 0.22 0.2 0.2127 0.1147 0.2392 0.1047 0.2270 0.2321 0.2587 0.2277 0.19 0.12 0.23 0.087 0.14 rs17782413 COSM4000446 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.092 0.316 T 0.709 0.414 P 0.091 0.324 B 0.053 0.228 N 1 0.090 P 0.595 0.155 N -1.84 0.842 D -0.2 0.102 N 0.049 0.030 -1.105 0.035 T 0.000 0.001 T . . . 2.542 0.367 19.74 0.993 0.575 0.021 0.062 N c -0.505 -0.466 0.002 0.094 0.487 0.133 0 1.9 0.247 -0.329 0.079 0.130 0.216 0.000 0.063 0.960 0.441 4.641 0.119 Serpin domain ENSG00000242550.1 Whole_Blood 0.2107 0.1079 0.2470 0.1916 0.1041 0.2305 0.2316 0.2223 0.1964 0.1874 0.1138 0.2452 0.1623 0.0972 0.2337 0.2250 0.2082 het 932.45 71 18 61471523 . G A 932.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.375;DP=71;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9894;MQ=58.69;MQ0=0;MQRankSum=-1.970;QD=13.13;ReadPosRankSum=-1.797;VQSLOD=4.6060;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,39:71:99:962,0,796 18 61647069 61647069 G A exonic SERPINB8 nonsynonymous SNV SERPINB8:NM_001031848:exon3:c.G203A:p.R68Q,SERPINB8:NM_001348367:exon3:c.G203A:p.R68Q,SERPINB8:NM_001348368:exon3:c.G203A:p.R68Q,SERPINB8:NM_001348369:exon3:c.G203A:p.R68Q,SERPINB8:NM_002640:exon3:c.G203A:p.R68Q,SERPINB8:NM_198833:exon3:c.G203A:p.R68Q 0.33 0.64 0.23 0.19 0.29 0.14 0.3009 0.5793 0.2701 0.1844 0.3343 0.3019 0.2654 0.1928 0.38 0.57 0.28 0.36 0.33 rs1944270 COSM4000452 1(haematopoietic_and_lymphoid_tissue);2(pancreas);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.276 0.038 N 1 0.090 P -0.985 0.012 N -1.77 0.837 D 2.16 0.004 N 0.016 0.320 -1.015 0.252 T 0.000 0.000 T . . . 0.229 0.116 4.984 0.787 0.120 0.041 0.095 N c -1.969 -1.970 1.000 0.747 0.742 0.980 0 -5.63 0.023 -2.358 0.012 -0.710 0.037 0.000 0.063 0.016 0.126 10.542 0.440 Serpin domain ENSG00000221887.4 Skin_Sun_Exposed_Lower_leg 0.2908 0.5823 0.2706 0.3063 0.1842 0.3443 0.2886 0.2789 0.1939 0.3697 0.5718 0.2768 0.2715 0.1726 0.3400 0.2926 0.2969 hom 4633.57 148 18 61647069 . G A 4633.57 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1876;MQ=59.00;MQ0=0;QD=31.31;VQSLOD=4.8382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4633,355,0 18 61654247 61654247 G T exonic SERPINB8 nonsynonymous SNV SERPINB8:NM_001348370:exon5:c.G320T:p.G107V,SERPINB8:NM_001276490:exon6:c.G314T:p.G105V,SERPINB8:NM_002640:exon7:c.G860T:p.G287V,SERPINB8:NM_198833:exon7:c.G860T:p.G287V . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D 0.000 0.843 D 1 0.810 D 4.365 0.986 H -3.13 0.928 D -8.04 0.970 D 0.946 0.941 1.084 0.990 D 0.940 0.980 D 0.250 0.891 D 6.687 0.915 32 0.998 0.898 0.936 0.584 D c 1.165 1.053 1.0 0.983 0.707 0.730 0 5.65 0.868 9.957 0.990 1.048 0.713 1.000 0.715 0.118 0.195 18.891 0.923 Serpin domain . . . . . . . . . . . . . . . . . . . het 928.65 89 18 61654247 . G T 928.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.678;DP=89;Dels=0.00;FS=0.817;HRun=0;HaplotypeScore=2.8602;MQ=59.01;MQ0=0;MQRankSum=0.882;QD=10.43;ReadPosRankSum=-0.193;VQSLOD=4.8800;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,39:89:99:959,0,1482 18 61654463 61654463 A G exonic SERPINB8 nonsynonymous SNV SERPINB8:NM_001348370:exon5:c.A536G:p.H179R,SERPINB8:NM_001276490:exon6:c.A530G:p.H177R,SERPINB8:NM_002640:exon7:c.A1076G:p.H359R,SERPINB8:NM_198833:exon7:c.A1076G:p.H359R 0.55 0.38 0.67 0.54 0.54 0.7 0.5834 0.4071 0.7430 0.5411 0.4887 0.5727 0.5774 0.6858 0.53 0.43 0.58 0.55 0.45 rs3826616 COSM5437808 1(oesophagus) . . . . . . . . . . . 0.001 0.784 D 0.998 0.715 D 0.98 0.732 D 0.000 0.843 D 0.000 0.588 P 3.175 0.890 M -1.67 0.828 D -6.33 0.941 D 0.268 0.600 -0.890 0.490 T 0.000 0.000 T . . . 4.211 0.564 23.9 0.996 0.732 0.939 0.592 D c 0.670 0.534 1.000 0.747 0.707 0.730 0 5.65 0.868 9.283 0.950 1.199 0.960 1.000 0.715 0.009 0.108 15.210 0.728 Serpin domain . . 0.5892 0.4041 0.7322 0.6106 0.5386 0.4875 0.5720 0.5839 0.6836 0.5141 0.4033 0.6921 0.5728 0.5267 0.4954 0.5689 0.5378 het 1122.10 180 18 61654463 . A G 1122.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.202;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3258;MQ=59.09;MQ0=0;MQRankSum=-1.252;QD=6.23;ReadPosRankSum=-0.401;VQSLOD=3.6102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,54:180:99:1152,0,3259 18 63489378 63489378 C T exonic CDH7 synonymous SNV CDH7:NM_001317214:exon5:c.C687T:p.V229V,CDH7:NM_004361:exon5:c.C687T:p.V229V,CDH7:NM_033646:exon5:c.C687T:p.V229V 0.85 0.65 0.9 0.98 0.96 0.85 0.9245 0.6674 0.9368 0.9911 0.9712 0.9602 0.9581 0.8781 0.86 0.67 0.96 0.84 0.93 rs8097752 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9305 0.6685 0.9360 0.9048 0.9906 0.9711 0.9632 0.9438 0.8788 0.8859 0.6813 0.9402 0.93 0.9944 0.9702 0.9659 0.9386 hom 2475.76 83 18 63489378 . C T 2475.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.342;DP=83;Dels=0.00;FS=6.180;HRun=1;HaplotypeScore=0.9958;MQ=57.96;MQ0=0;MQRankSum=1.826;QD=29.83;ReadPosRankSum=1.500;VQSLOD=3.4848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,81:83:99:2509,146,0 18 63530016 63530016 A G exonic CDH7 nonsynonymous SNV CDH7:NM_001317214:exon11:c.A1727G:p.N576S,CDH7:NM_004361:exon11:c.A1727G:p.N576S,CDH7:NM_033646:exon11:c.A1727G:p.N576S 0.63 0.28 0.74 0.92 0.71 0.64 0.7023 0.3384 0.8157 0.9206 0.7209 0.7080 0.7274 0.7062 0.59 0.35 0.71 0.55 0.7 rs2291343 COSM5618231;COSM5618232 1(breast) . . . . . . . . . . . 0.532 0.070 T 0.002 0.174 B 0.016 0.198 B 0.000 0.843 D 0.000 0.494 P -0.095 0.047 N 0.77 0.496 T -0.77 0.214 N 0.042 0.041 -0.952 0.406 T 0.000 0.000 T . . . 1.610 0.255 13.90 0.981 0.376 0.857 0.445 D c -0.377 -0.126 0.300 0.192 0.554 0.246 0 5.37 0.769 2.552 0.452 1.140 0.893 1.000 0.715 0.990 0.544 15.355 0.740 Cadherin|Cadherin-like ENSG00000263720.1|ENSG00000263720.1|ENSG00000263720.1|ENSG00000263720.1 Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Nerve_Tibial 0.7164 0.3322 0.8109 0.7757 0.9128 0.7150 0.7073 0.7275 0.7072 0.6179 0.3420 0.7852 0.7881 0.9204 0.7064 0.7078 0.6844 hom 3651.82 104 18 63530016 . A G 3651.82 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4614;MQ=58.52;MQ0=0;QD=35.11;VQSLOD=4.9554;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3651,295,0 18 64172434 64172434 C G exonic CDH19 nonsynonymous SNV CDH19:NM_021153:exon12:c.G1934C:p.G645A 0.007 0.0015 0.01 . 0.026 . 0.0161 0.0045 0.0087 0.0003 0.0198 0.0241 0.0143 0.0028 0.019 0.0059 0.025 . 0.0082 rs55874520 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.993 0.797 D 0.000 0.843 D 1.000 0.810 D 3.95 0.965 H -2.0 0.854 D -5.44 0.854 D 0.217 0.267 0.426 0.895 D 0.608 0.861 D . . . 5.487 0.745 26.2 0.998 0.915 0.997 0.990 D c 0.810 0.697 1.000 0.747 0.487 0.133 0 5.18 0.710 7.407 0.791 0.935 0.490 1.000 0.715 0.663 0.301 19.069 0.931 Cadherin\x2c cytoplasmic domain . . 0.0158 0.0046 0.0093 0.0045 0.0002 0.0215 0.0250 0.0198 0.0026 0.0151 0.0047 0.0119 0.0066 0.0006 0.0146 0.0226 0.0244 het 1741.61 161 18 64172434 . C G 1741.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.185;DP=161;Dels=0.00;FS=7.236;HRun=0;HaplotypeScore=6.0966;MQ=57.58;MQ0=0;MQRankSum=0.907;QD=10.82;ReadPosRankSum=0.029;VQSLOD=3.2381;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,71:161:99:1772,0,2351 18 65179829 65179829 G A exonic DSEL nonsynonymous SNV DSEL:NM_032160:exon2:c.C2047T:p.P683S 0.44 0.3 0.43 0.5 0.57 0.42 0.4941 0.3203 0.4771 0.5245 0.6001 0.5317 0.5077 0.4034 0.45 0.32 0.52 0.4 0.45 rs2279269 COSM5001960 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.033 0.249 N 1 0.090 P -1.245 0.008 N 2.45 0.150 T 0.7 0.022 N 0.018 0.003 -0.930 0.441 T 0.000 0.000 T . . . 0.426 0.135 6.837 0.749 0.105 0.227 0.216 N c -0.993 -0.724 1.000 0.500 0.651 0.465 0 2.92 0.329 1.612 0.363 0.244 0.267 0.898 0.311 0.949 0.424 1.172 0.017 . . . 0.4972 0.3150 0.4714 0.5314 0.5219 0.6008 0.5274 0.5208 0.4023 0.4842 0.3282 0.4905 0.5464 0.5186 0.6046 0.5385 0.5285 het 744.77 59 18 65179829 . G A 744.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.890;DP=59;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;MQRankSum=2.327;QD=12.62;ReadPosRankSum=0.190;VQSLOD=5.7663;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,30:59:99:775,0,894 18 66504093 66504093 A C exonic CCDC102B synonymous SNV CCDC102B:NM_024781:exon2:c.A93C:p.A31A,CCDC102B:NM_001093729:exon4:c.A93C:p.A31A 0.92 0.71 0.98 1. 1. 1. 0.9783 0.7479 0.9905 1 1 0.9995 0.9956 0.9996 0.92 0.77 1. 0.86 0.95 rs485613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9818 0.7403 0.9890 0.9993 1 1 0.9994 0.9901 0.9995 0.9268 0.7450 0.9797 1 1 1 0.9994 0.9816 hom 3537.69 108 18 66504093 . A C 3537.69 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6006;MQ=59.22;MQ0=0;QD=32.76;VQSLOD=9.0092;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3537,277,0 18 66504351 66504351 G A exonic CCDC102B synonymous SNV CCDC102B:NM_024781:exon2:c.G351A:p.R117R,CCDC102B:NM_001093729:exon4:c.G351A:p.R117R 0.21 0.19 0.28 0.006 0.42 0.16 0.3185 0.2170 0.2748 0.0035 0.3556 0.4043 0.35 0.2105 0.35 0.22 0.41 0.22 0.33 rs637051 COSM4131069;COSM4131071;COSM4131070 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3177 0.2162 0.2747 0.3651 0.0034 0.3465 0.4107 0.3516 0.2131 0.3229 0.2210 0.3115 0.3709 0.0049 0.3329 0.4146 0.3133 het 2377.40 174 18 66504351 . G A 2377.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.644;DP=174;Dels=0.00;FS=4.434;HRun=0;HaplotypeScore=4.8557;MQ=59.41;MQ0=0;MQRankSum=0.057;QD=13.66;ReadPosRankSum=-0.659;VQSLOD=5.1584;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,85:174:99:2407,0,2514 18 66504459 66504459 A T exonic CCDC102B nonsynonymous SNV CCDC102B:NM_024781:exon2:c.A459T:p.K153N,CCDC102B:NM_001093729:exon4:c.A459T:p.K153N 0.92 0.71 0.98 1. 1. 1. 0.9785 0.7503 0.9906 1 1 0.9995 0.9956 0.9996 0.93 0.77 1. 0.86 0.94 rs572020 . . . . . . . . . . . . . 0.112 0.289 T 0.002 0.090 B 0.003 0.104 B 0.042 0.019 N 1 0.090 P 1.355 0.339 L 0.78 0.494 T -0.55 0.168 N 0.045 0.098 -0.945 0.419 T 0.000 0.000 T . . . -0.464 0.058 0.270 0.665 0.079 0.042 0.096 N c -1.324 -1.469 1.000 0.747 0.554 0.246 0 -9.34 0.005 -0.716 0.051 0.880 0.385 0.000 0.063 0.887 0.373 6.934 0.235 . . . 0.9819 0.7429 0.9891 0.9993 1 1 0.9994 0.9901 0.9995 0.9272 0.7463 0.9797 1 0.9988 1 0.9994 0.9817 hom 4763.91 152 18 66504459 . A T 4763.91 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.60;MQ0=0;QD=31.34;VQSLOD=8.7807;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:4763,373,0 18 66513615 66513615 A G exonic CCDC102B nonsynonymous SNV CCDC102B:NM_024781:exon4:c.A893G:p.K298R,CCDC102B:NM_001093729:exon6:c.A893G:p.K298R 0.37 0.07 0.45 0.64 0.4 0.4 0.3888 0.1188 0.4162 0.6591 0.4306 0.3840 0.4159 0.3956 0.3 0.13 0.38 0.27 0.35 rs2187094 COSM148442;COSM4381505;COSM4381504 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.294 0.148 T 0.889 0.469 P 0.399 0.427 B 0.000 0.629 D 0.997 0.810 P 1.78 0.463 L 0.91 0.449 T -2.05 0.470 N 0.147 0.319 -1.060 0.118 T 0.000 0.000 T . . . 1.744 0.271 14.66 0.912 0.199 0.905 0.514 D c 0.013 0.049 0.997 0.352 0.554 0.246 0 4.4 0.522 2.684 0.464 1.199 0.960 1.000 0.715 0.997 0.653 9.504 0.380 . ENSG00000150636.11|ENSG00000150636.11 Adipose_Subcutaneous|Lung 0.3820 0.1071 0.3901 0.3530 0.6383 0.4360 0.3731 0.3835 0.3843 0.3251 0.1167 0.3804 0.2980 0.6632 0.4431 0.3757 0.3978 het 278.22 40 18 66513615 . A G 278.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.074;DP=40;Dels=0.00;FS=1.360;HRun=1;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;MQRankSum=0.605;QD=6.96;ReadPosRankSum=-1.579;VQSLOD=4.6118;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,12:40:99:308,0,635 18 66542006 66542006 G T exonic CCDC102B nonsynonymous SNV CCDC102B:NM_024781:exon5:c.G1037T:p.C346F,CCDC102B:NM_001093729:exon7:c.G1037T:p.C346F 0.2 0.29 0.18 0.13 0.14 0.2 0.1758 0.2870 0.2153 0.1219 0.1108 0.1589 0.1435 0.2024 0.2 0.28 0.16 0.23 0.2 rs745894 COSM4000456;COSM4000457;COSM4000455 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.507 0.076 T 0.002 0.090 B 0.003 0.080 B 0.503 0.051 N 1 0.090 P 1.04 0.263 L 2.74 0.117 T -2.07 0.473 N 0.068 0.084 -0.974 0.365 T 0.000 0.000 T . . . -1.489 0.017 0.003 0.503 0.043 0.006 0.027 N c -1.523 -1.696 0.999 0.394 0.554 0.246 0 -8.87 0.007 -4.122 0.003 -0.964 0.024 0.000 0.063 0.357 0.247 3.561 0.074 . . . 0.1755 0.2850 0.2190 0.1523 0.1194 0.1170 0.1645 0.1584 0.1974 0.1988 0.2909 0.2206 0.1755 0.1165 0.1166 0.1756 0.1534 het 951.30 73 18 66542006 . G T 951.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.782;DP=73;Dels=0.00;FS=1.923;HRun=3;HaplotypeScore=0.5784;MQ=59.37;MQ0=0;MQRankSum=-0.668;QD=13.03;ReadPosRankSum=1.296;VQSLOD=6.4182;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,36:73:99:981,0,1030 18 67345034 67345034 T C exonic DOK6 synonymous SNV DOK6:NM_152721:exon4:c.T354C:p.D118D 0.79 0.62 0.83 0.96 0.81 0.81 0.8033 0.6710 0.8611 0.9615 0.7751 0.7920 0.8051 0.8197 0.76 0.69 0.8 0.76 0.8 rs8099030 COSM4131074 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8091 0.6676 0.8502 0.7505 0.9620 0.7792 0.8001 0.8012 0.8235 0.7719 0.6850 0.8520 0.8179 0.9704 0.7739 0.7946 0.7780 het 1223.19 92 18 67345034 . T C 1223.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.195;DP=92;Dels=0.00;FS=1.980;HRun=0;HaplotypeScore=1.7900;MQ=59.59;MQ0=0;MQRankSum=-1.268;QD=13.30;ReadPosRankSum=0.023;VQSLOD=6.0400;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,49:92:99:1253,0,1152 18 67531642 67531642 T C exonic CD226 nonsynonymous SNV CD226:NM_001303619:exon5:c.A454G:p.S152G,CD226:NM_001303618:exon6:c.A919G:p.S307G,CD226:NM_006566:exon7:c.A919G:p.S307G 0.47 0.26 0.55 0.61 0.53 0.49 0.5104 0.3016 0.5696 0.6367 0.5596 0.5184 0.5099 0.4823 0.45 0.32 0.52 0.37 0.44 rs763361 COSM1179777 1(pancreas);1(skin);2(prostate) . . . . . . . . . . . 0.565 0.063 T 0.001 0.067 B 0.002 0.063 B 0.765 0.066 N 1 0.090 P 0.69 0.170 N 1.9 0.471 T -0.97 0.258 N 0.028 0.025 -0.940 0.426 T 0.000 0.000 T . . . -1.451 0.018 0.003 0.247 0.011 0.019 0.058 N c -1.226 -1.319 0.019 0.132 0.707 0.730 0 0.225 0.145 -0.049 0.118 0.935 0.490 0.000 0.063 0.006 0.095 . . . ENSG00000150637.4 Testis 0.5183 0.2955 0.5635 0.5234 0.6477 0.5540 0.5185 0.5110 0.4808 0.4835 0.3103 0.5516 0.5633 0.6582 0.5639 0.5388 0.5214 hom 4836.36 159 18 67531642 . T C 4836.36 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7692;MQ=59.13;MQ0=0;QD=30.42;VQSLOD=9.1065;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4836,388,0 18 67718688 67718688 A G exonic RTTN nonsynonymous SNV RTTN:NM_001318520:exon38:c.T2546C:p.F849S,RTTN:NM_173630:exon39:c.T5282C:p.F1761S 0.79 0.31 0.91 1. 0.95 0.97 0.9184 0.4163 0.9512 0.9994 0.9607 0.9603 0.9422 0.9637 0.8 0.46 0.96 0.7 0.96 rs4891392 . . other not_specified RCV000118217.3 MedGen CN169374 . . . . . . 0.978 0.020 T 0.0 0.026 B 0.001 0.040 B 0.813 0.092 N 1 0.090 P -0.65 0.021 N 0.93 0.441 T 2.23 0.003 N 0.005 0.000 -1.032 0.198 T 0.000 0.000 T . . . -0.332 0.066 0.561 0.578 0.057 0.002 0.009 N c -1.645 -1.604 0.337 0.195 0.706 0.609 0 -1.23 0.089 -1.006 0.038 -0.939 0.025 0.000 0.063 0.000 0.016 4.766 0.124 . . . 0.9270 0.4068 0.9478 0.9563 0.9994 0.9591 0.9613 0.9301 0.9639 0.8082 0.4213 0.9391 0.9404 1 0.9619 0.9574 0.9439 hom 4112.17 138 18 67718688 . A G 4112.17 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4567;MQ=59.59;MQ0=0;QD=29.80;VQSLOD=8.6996;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4112,313,0 18 67863850 67863850 - CTC exonic RTTN nonframeshift insertion RTTN:NM_173630:exon7:c.727_728insGAG:p.G242_D243insG 0.95 0.83 0.99 1. 1. 1. 0.9870 0.8504 0.9941 1 0.9998 0.9996 0.9956 0.9997 0.95 0.86 1. 0.15 . rs74941514 COSM5713329;COSM5713330 6(central_nervous_system) Benign Disease_Association_NOS RCV000374613.1 MedGen CN239215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9894 0.8499 0.9934 0.9999 1 0.9999 0.9996 0.9936 0.9997 0.9584 0.8541 0.9892 1 1 1 0.9994 0.9969 hom 6232.53 101 18 67863850 . T TCTC 6232.53 Mask AC=2;AF=1.00;AN=2;DP=101;FS=0.000;HRun=0;HaplotypeScore=270.3087;MQ=55.14;MQ0=0;QD=61.71;set=variant2 GT:AD:DP:GQ:PL 1/1:7,91:101:99:6233,289,0 18 67871343 67871343 A C exonic RTTN nonsynonymous SNV RTTN:NM_173630:exon3:c.T376G:p.S126A 0.71 0.14 0.84 0.99 0.91 0.9 0.8654 0.2454 0.8733 0.9976 0.9094 0.9232 0.8864 0.9063 0.73 0.29 0.92 0.56 0.75 rs3911730 . . other\x2cLikely benign not_specified\x2cnot_specified RCV000118208.3\x2cRCV000118207.2 MedGen\x2cMedGen CN169374\x2cCN169374 . . . . . . 0.698 0.042 T 0.0 0.026 B 0.002 0.063 B 0.613 0.057 N 1 0.090 P 1.43 0.360 L 0.58 0.542 T -0.69 0.197 N 0.035 0.024 -0.920 0.456 T 0.000 0.000 T . . . -0.692 0.045 0.075 0.782 0.118 0.081 0.139 N c -1.148 -1.177 1.000 0.462 0.615 0.372 0 -1.54 0.081 -1.155 0.033 0.158 0.243 0.000 0.063 0.175 0.211 0.816 0.010 . . . 0.8746 0.2340 0.8753 0.9141 0.9979 0.9097 0.9237 0.8837 0.9060 0.7339 0.2612 0.8747 0.8940 0.9994 0.9160 0.9166 0.8798 hom 2770.03 90 18 67871343 . A C 2770.03 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.694;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58.81;MQ0=0;MQRankSum=0.808;QD=30.78;ReadPosRankSum=-1.463;VQSLOD=8.9128;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,89:90:99:2803,217,0 18 67992432 67992432 C T exonic SOCS6 synonymous SNV SOCS6:NM_004232:exon2:c.C528T:p.H176H 0.039 0.011 0.023 0.02 0.079 0.069 0.0609 0.0182 0.0317 0.0104 0.0420 0.0771 0.0441 0.0778 0.056 0.019 0.074 0.033 0.025 rs2231563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0592 0.0181 0.0324 0.0977 0.0093 0.0436 0.0750 0.0613 0.0777 0.0488 0.0182 0.0358 0.0795 0.0062 0.0452 0.0713 0.0605 het 2157.68 159 18 67992432 . C T 2157.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.007;DP=159;Dels=0.00;FS=1.282;HRun=0;HaplotypeScore=5.1158;MQ=59.33;MQ0=0;MQRankSum=0.454;QD=13.57;ReadPosRankSum=-0.944;VQSLOD=5.5155;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:81,78:159:99:2188,0,1939 18 70417396 70417396 C T exonic NETO1 nonsynonymous SNV NETO1:NM_001201465:exon9:c.G1442A:p.S481N,NETO1:NM_138966:exon9:c.G1442A:p.S481N 0.99 0.96 0.99 1. 1. 1. 0.9973 0.9716 0.9978 1 1 1.0000 1 1 0.99 0.97 1. 0.96 0.95 rs922999 . . . . . . . . . . . . . 0.369 0.116 T 0.0 0.622 B 0.0 0.500 B 0.000 0.491 N 0.998 0.225 P 0.975 0.246 L 1.66 0.275 T -1.08 0.281 N 0.007 0.007 -0.919 0.457 T 0.000 0.000 T . . . 1.859 0.284 15.34 0.978 0.357 0.678 0.333 D c -0.372 -0.327 0.000 0.070 0.693 0.558 0 -0.592 0.110 1.749 0.377 0.116 0.208 1.000 0.715 1.000 0.888 11.740 0.509 . . . 0.9978 0.9706 0.9979 1 1 1 1.0000 0.9967 0.9999 0.9914 0.9706 0.9964 1 1 1 0.9999 0.9949 hom 3363.80 101 18 70417396 . C T 3363.80 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.77;MQ0=0;QD=33.30;VQSLOD=9.5446;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3363,283,0 18 72103782 72103782 T C exonic FAM69C nonsynonymous SNV FAM69C:NM_001044369:exon4:c.A1214G:p.Q405R 0.34 0.34 0.3 0.26 0.38 0.38 0.3741 0.3310 0.2891 0.2452 0.3977 0.4114 0.3932 0.3635 0.36 0.32 0.38 0.35 0.16 rs2278154 COSM4131079;COSM4131078 2(thyroid);1(biliary_tract) . . . . . . . . . . . 1.0 0.021 T 0.0 0.026 B 0.0 0.013 B 0.088 0.205 N 1 0.090 P -1.905 0.002 N . . . 0.27 0.043 N 0.016 0.003 -0.946 0.417 T 0.000 0.000 T . . . -0.811 0.040 0.040 0.146 0.003 0.002 0.014 N c -1.271 -1.129 0.998 0.368 0.487 0.133 0 4.08 0.467 1.579 0.359 -0.328 0.075 0.008 0.178 0.000 0.016 8.528 0.323 FAM69\x2c N-terminal . . 0.3492 0.3121 0.2826 0.4127 0.2288 0.4000 0.3792 0.3562 0.3454 0.3648 0.3102 0.2799 0.4333 0.2321 0.4075 0.4014 0.4092 hom 601.23 25 18 72103782 . T C 601.23 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3670;MQ=57.17;MQ0=0;QD=24.05;VQSLOD=4.5341;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:60.09:634,60,0 18 72176083 72176083 T C exonic CNDP2 nonsynonymous SNV CNDP2:NM_018235:exon5:c.T376C:p.Y126H 0.22 0.08 0.32 0.3 0.19 0.27 0.2269 0.1121 0.3575 0.3018 0.1413 0.2119 0.2091 0.2646 0.19 0.12 0.22 0.15 0.2 rs2278161 COSM148445 1(breast);1(stomach);2(prostate) . . . . . . . . . . . 0.007 0.599 D 0.535 0.359 P 0.778 0.554 P 0.000 0.843 D 0.000 0.810 P 3.06 0.872 M 0.61 0.535 T -4.31 0.765 D 0.344 0.619 -1.136 0.015 T 0.000 0.000 T . . . 5.010 0.674 25.1 0.956 0.267 0.965 0.691 D c 0.703 0.641 1.000 0.747 0.707 0.730 0 5.57 0.840 7.653 0.826 0.952 0.539 1.000 0.715 0.996 0.625 15.743 0.776 . ENSG00000133313.10|ENSG00000133313.10|ENSG00000133313.10|ENSG00000133313.10|ENSG00000133313.10|ENSG00000133313.10|ENSG00000133313.10|ENSG00000133313.10|ENSG00000133313.10 Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.2316 0.1138 0.3513 0.1650 0.2991 0.1344 0.2201 0.2156 0.2582 0.1848 0.1084 0.3309 0.2020 0.2918 0.1340 0.2197 0.2070 het 937.79 82 18 72176083 . T C 937.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.952;DP=82;Dels=0.00;FS=0.846;HRun=0;HaplotypeScore=4.4961;MQ=58.26;MQ0=0;MQRankSum=1.612;QD=11.44;ReadPosRankSum=-0.736;VQSLOD=5.2877;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,40:82:99:968,0,1059 18 72223591 72223591 - TGCTGC exonic CNDP1 nonframeshift insertion CNDP1:NM_032649:exon2:c.43_44insTGCTGC:p.L20_E21insLL . . . . . . 0.0290 0.0087 0.0161 0.0004 0.0360 0.0432 0.0285 0.0039 0.031 0.0089 0.043 . . rs10663835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0302 0.0080 0.0198 0.0381 0.0006 0.0384 0.0448 0.0323 0.0044 0.0293 0.0113 0.0260 0.0473 0 0.0358 0.0416 0.0259 het 2693.61 132 18 72223591 . G GTGCTGC 2693.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.060;DP=132;FS=14.963;HRun=0;HaplotypeScore=677.1293;MQ=52.24;MQ0=0;MQRankSum=-4.901;QD=20.41;ReadPosRankSum=-1.063;set=variant2 GT:AD:DP:GQ:PL 0/1:101,27:132:99:2733,0,3096 18 72228124 72228124 A G exonic CNDP1 nonsynonymous SNV CNDP1:NM_032649:exon4:c.A337G:p.I113V 0.98 0.93 1. 1. 1. 1. 0.9949 0.9462 0.9975 1 1 0.9997 0.9978 0.9995 0.98 0.95 1. 0.98 0.93 rs4263028 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9958 0.9425 0.9967 0.9993 1 1 0.9999 0.9978 0.9996 0.9846 0.9462 0.9952 1 1 1 0.9998 0.9980 hom 8032.76 250 18 72228124 . A G 8032.76 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2568;MQ=59.00;MQ0=0;QD=32.13;VQSLOD=5.5415;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8031,659,0 18 72343008 72343008 T C exonic ZNF407 synonymous SNV ZNF407:NM_001146189:exon1:c.T33C:p.D11D,ZNF407:NM_001146190:exon1:c.T33C:p.D11D,ZNF407:NM_017757:exon1:c.T33C:p.D11D 0.99 1. 0.95 1. 1. 1. 0.9898 0.9985 0.8967 1 1 0.9997 0.9966 1 1. 1. 1. 1. . rs7243081 . . Likely benign not_specified RCV000118938.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9857 0.9985 0.8988 1 1 1 0.9999 0.9861 1 0.9969 0.9984 0.9093 1 1 1 0.9999 0.9939 hom 802.79 29 18 72343008 . T C 802.79 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.238;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.55;MQ0=0;MQRankSum=1.609;QD=27.68;ReadPosRankSum=0.990;VQSLOD=6.9146;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,28:29:43.65:836,44,0 18 72347482 72347482 T C exonic ZNF407 synonymous SNV ZNF407:NM_001146189:exon1:c.T4507C:p.L1503L,ZNF407:NM_001146190:exon1:c.T4507C:p.L1503L,ZNF407:NM_017757:exon1:c.T4507C:p.L1503L 0.42 0.72 0.33 0.18 0.42 0.35 0.4198 0.7003 0.2601 0.1864 0.3737 0.4488 0.3924 0.3772 0.51 0.69 0.43 0.56 . rs12327359 COSM1130046;COSM3756214;COSM3756213 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) other not_specified RCV000118940.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3980 0.6969 0.2559 0.4543 0.1818 0.3725 0.4406 0.4014 0.3719 0.4802 0.6882 0.2804 0.4338 0.1917 0.3587 0.4351 0.4214 het 364 29 18 72347482 . T C 364 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.206;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.74;MQ0=0;MQRankSum=-0.987;QD=12.55;ReadPosRankSum=1.732;VQSLOD=6.2262;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,13:29:99:394,0,467 18 72913920 72913920 C T exonic ZADH2 synonymous SNV ZADH2:NM_001306093:exon2:c.G216A:p.K72K,ZADH2:NM_175907:exon2:c.G585A:p.K195K 0.025 0.003 0.02 . 0.036 0.075 0.0383 0.0070 0.0209 0.0001 0.0304 0.0373 0.0463 0.0970 0.027 0.0086 0.037 0.022 0.025 rs61910717 COSM4131087 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0382 0.0063 0.0225 0.0447 0.0002 0.0302 0.0379 0.0527 0.0951 0.0249 0.0058 0.0275 0.0530 0.0006 0.0255 0.0366 0.0428 het 4021.79 249 18 72913920 . C T 4021.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.119;DP=249;DS;Dels=0.00;FS=2.260;HRun=2;HaplotypeScore=3.6209;MQ=59.56;MQ0=0;MQRankSum=-0.427;QD=16.15;ReadPosRankSum=-1.284;VQSLOD=5.3207;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:131,118:249:99:3344,0,3811 18 73000005 73000005 G A exonic TSHZ1 synonymous SNV TSHZ1:NM_001308210:exon2:c.G2643A:p.P881P,TSHZ1:NM_005786:exon2:c.G2508A:p.P836P 0.014 0.0023 0.023 . 0.046 0.0041 0.0305 0.0094 0.0127 0.0001 0.0684 0.0430 0.0333 0.0064 0.028 0.011 0.038 0.011 0.049 rs34878160 . . Benign Aural_atresia\x2c_congenital RCV000336737.1 MedGen:OMIM C1842937:607842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0311 0.0100 0.0133 0.0553 0.0001 0.0665 0.0415 0.0345 0.0068 0.0319 0.0089 0.0143 0.0695 0 0.0621 0.0411 0.0419 het 915.05 79 18 73000005 . G A 915.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.160;DP=79;Dels=0.00;FS=0.879;HRun=0;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;MQRankSum=0.987;QD=11.58;ReadPosRankSum=1.328;VQSLOD=5.9019;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:945,0,1081 18 74580780 74580780 C T exonic ZNF236 nonsynonymous SNV ZNF236:NM_001306089:exon4:c.C503T:p.S168L,ZNF236:NM_007345:exon4:c.C497T:p.S166L 0.017 0.0008 0.025 0.023 0.026 0.017 0.0187 0.0034 0.0126 0.0141 0.0406 0.0216 0.0269 0.0138 0.013 0.0033 0.018 0.022 0.041 rs2276211 . . . . . . . . . . . . . 0.092 0.316 T 0.905 0.479 P 0.36 0.414 B 0.039 0.243 N 1.000 0.186 N 2.14 0.601 M 0.31 0.586 T -2.59 0.558 D 0.095 0.401 -0.955 0.401 T 0.074 0.298 T . . . 2.391 0.349 18.76 0.809 0.130 0.564 0.299 D c -0.199 -0.228 1.000 0.454 0.563 0.310 0 4.4 0.522 4.656 0.609 0.935 0.490 0.284 0.250 0.016 0.126 13.417 0.603 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0190 0.0029 0.0138 0.0185 0.0120 0.0410 0.0208 0.0273 0.0129 0.0168 0.0030 0.0119 0.0166 0.0099 0.0409 0.0202 0.0184 het 1886.99 118 18 74580780 . C T 1886.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.997;DP=118;Dels=0.00;FS=0.862;HRun=1;HaplotypeScore=1.8295;MQ=58.81;MQ0=0;MQRankSum=0.000;QD=15.99;ReadPosRankSum=-0.076;VQSLOD=6.2463;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,67:118:99:1917,0,1213 18 74587458 74587458 G A exonic ZNF236 synonymous SNV ZNF236:NM_001306089:exon6:c.G678A:p.P226P,ZNF236:NM_007345:exon6:c.G672A:p.P224P 0.017 0.0008 0.025 0.023 0.026 0.017 0.0195 0.0034 0.0126 0.0137 0.0405 0.0219 0.0288 0.0178 0.014 0.0037 0.018 0.022 0.033 rs2276210 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0191 0.0030 0.0124 0.0172 0.0118 0.0405 0.0205 0.0267 0.0129 0.0169 0.0029 0.0119 0.0166 0.0099 0.0412 0.0203 0.0183 het 1739.15 138 18 74587458 . G A 1739.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.392;DP=138;Dels=0.00;FS=4.273;HRun=0;HaplotypeScore=5.2803;MQ=59.46;MQ0=0;MQRankSum=0.906;QD=12.60;ReadPosRankSum=0.454;VQSLOD=5.1020;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,72:138:99:1769,0,1629 18 74611127 74611127 A G exonic ZNF236 nonsynonymous SNV ZNF236:NM_001306089:exon11:c.A1843G:p.I615V,ZNF236:NM_007345:exon11:c.A1837G:p.I613V 0.92 0.93 0.97 0.86 0.95 0.89 0.9463 0.9086 0.9751 0.8889 0.9891 0.9601 0.9410 0.9055 0.95 0.92 0.96 0.89 0.96 rs608433 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.103 0.197 N 1 0.090 P -0.41 0.029 N 3.02 0.093 T 0.09 0.059 N 0.009 0.009 -0.995 0.313 T 0.000 0.000 T . . . -1.954 0.009 0.001 0.145 0.003 0.025 0.069 N c -1.401 -1.322 0.008 0.116 0.651 0.465 0 1.27 0.205 0.653 0.244 0.104 0.200 0.000 0.063 0.008 0.104 6.162 0.195 . . . 0.9483 0.9115 0.9706 0.9315 0.8915 0.9896 0.9601 0.9512 0.9066 0.9489 0.9150 0.9641 0.9404 0.8984 0.9883 0.9639 0.9552 hom 2099.78 62 18 74611127 . A G 2099.78 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.87;VQSLOD=14.0420;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:2133,166,0 18 74627613 74627613 G A exonic ZNF236 synonymous SNV ZNF236:NM_001306089:exon19:c.G3072A:p.A1024A,ZNF236:NM_007345:exon19:c.G3066A:p.A1022A 0.012 0.0015 0.025 0.013 0.026 0.0031 0.0166 0.0034 0.0119 0.0060 0.0405 0.0213 0.0244 0.0040 0.013 0.0032 0.018 0.022 0.033 rs34208338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0171 0.0028 0.0133 0.0185 0.0043 0.0411 0.0206 0.0247 0.0039 0.0166 0.0029 0.0107 0.0166 0.0068 0.0410 0.0201 0.0184 het 2298.05 204 18 74627613 . G A 2298.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.458;DP=204;Dels=0.00;FS=7.060;HRun=0;HaplotypeScore=9.2571;MQ=59.01;MQ0=1;MQRankSum=-0.664;QD=11.26;ReadPosRankSum=0.141;VQSLOD=3.0999;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,90:204:99:2328,0,2735 18 74659494 74659494 G A exonic ZNF236 synonymous SNV ZNF236:NM_001306089:exon27:c.G4800A:p.A1600A,ZNF236:NM_007345:exon27:c.G4794A:p.A1598A 0.05 0.12 0.035 0.022 0.026 0.017 0.0289 0.1114 0.0172 0.0133 0.0405 0.0233 0.0333 0.0139 0.05 0.11 0.02 0.12 0.049 rs9961872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0281 0.1142 0.0190 0.0454 0.0117 0.0410 0.0212 0.0333 0.0133 0.0477 0.1093 0.0143 0.0430 0.0099 0.0409 0.0209 0.0245 het 2148.63 174 18 74659494 . G A 2148.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.486;DP=174;Dels=0.00;FS=9.590;HRun=0;HaplotypeScore=6.3154;MQ=59.06;MQ0=0;MQRankSum=-0.786;QD=12.35;ReadPosRankSum=0.860;VQSLOD=4.1168;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:84,87:174:99:2179,0,1875 18 74671768 74671768 T C exonic ZNF236 synonymous SNV ZNF236:NM_001306089:exon29:c.T5238C:p.H1746H,ZNF236:NM_007345:exon29:c.T5232C:p.H1744H 0.59 0.44 0.64 0.66 0.64 0.62 0.6387 0.4849 0.5632 0.6531 0.6564 0.6723 0.68 0.6304 0.61 0.5 0.67 0.46 0.62 rs470403 COSM3756217 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6352 0.4773 0.5758 0.6194 0.6490 0.6499 0.6701 0.6756 0.6311 0.6123 0.4787 0.5740 0.6391 0.6241 0.6631 0.6763 0.6431 het 1319.07 120 18 74671768 . T C 1319.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.424;DP=120;Dels=0.00;FS=4.534;HRun=0;HaplotypeScore=3.8887;MQ=59.42;MQ0=0;MQRankSum=-1.847;QD=10.99;ReadPosRankSum=-2.113;VQSLOD=3.6275;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,51:120:99:1349,0,1714 18 74680259 74680259 C T exonic ZNF236 synonymous SNV ZNF236:NM_001306089:exon31:c.C5508T:p.A1836A,ZNF236:NM_007345:exon31:c.C5502T:p.A1834A 0.89 0.68 0.94 0.98 0.97 0.98 0.9531 0.7206 0.9698 0.9872 0.9581 0.9717 0.9555 0.9842 0.9 0.73 0.98 0.81 0.93 rs657066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9558 0.7130 0.9663 0.9466 0.9885 0.9574 0.9740 0.9527 0.9850 0.9019 0.7219 0.9690 0.9570 0.9901 0.9574 0.9754 0.9593 het 845.70 67 18 74680259 . C T 845.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.581;DP=67;Dels=0.00;FS=2.084;HRun=0;HaplotypeScore=1.8658;MQ=59.66;MQ0=0;MQRankSum=0.859;QD=12.62;ReadPosRankSum=0.972;VQSLOD=6.3376;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,33:67:99:876,0,874 18 74962645 74962645 T C exonic GALR1 synonymous SNV GALR1:NM_001480:exon1:c.T141C:p.G47G 0.49 0.45 0.44 0.37 0.67 0.52 0.5824 0.4933 0.3585 0.3660 0.6315 0.6604 0.6267 0.5681 0.59 0.48 0.65 0.45 0.65 rs5374 COSM1389815 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5709 0.4813 0.3735 0.7606 0.3706 0.6188 0.6493 0.5909 0.5610 0.5746 0.4728 0.3926 0.7583 0.3617 0.6352 0.6462 0.6204 het 837.41 70 18 74962645 . T C 837.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.674;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8445;MQ=60.00;MQ0=0;MQRankSum=-0.333;QD=11.96;ReadPosRankSum=1.689;VQSLOD=5.7274;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,30:70:99:867,0,1054 18 74980809 74980809 G A exonic GALR1 nonsynonymous SNV GALR1:NM_001480:exon3:c.G1001A:p.S334N 0.91 0.66 0.98 1. 1. 1. 0.9731 0.7006 0.9860 1 1 0.9993 0.9901 0.9995 0.9 0.69 1. 0.8 0.87 rs5376 . . . . . . . . . . . . . 0.882 0.025 T 0.0 0.026 B 0.0 0.013 B 0.047 0.234 N 1 0.090 P -0.845 0.015 N -0.49 0.704 T 0.61 0.025 N 0.005 0.000 -0.988 0.331 T 0.000 0.000 T . . . -0.581 0.051 0.139 0.355 0.022 0.004 0.021 N c -1.444 -1.364 0.000 0.012 0.487 0.133 0 1.01 0.190 0.048 0.139 0.202 0.252 0.002 0.151 0.007 0.100 1.705 0.027 . . . 0.9786 0.6998 0.9849 0.9997 1 1 0.9992 0.9901 0.9995 0.9156 0.7061 0.9749 1 1 1 0.9992 0.9807 hom 5385.90 186 18 74980809 . G A 5385.90 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.8246;MQ=58.52;MQ0=0;QD=28.96;VQSLOD=7.6266;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5385,415,0 18 76753588 76753588 A G exonic SALL3 nonsynonymous SNV SALL3:NM_171999:exon2:c.A1597G:p.T533A 0.72 0.34 0.82 0.91 0.85 0.83 0.7993 0.4208 0.8577 0.9229 0.8034 0.8190 0.8205 0.8203 0.69 0.42 0.83 0.55 0.35 rs7240860 COSM438398 2(thyroid);6(large_intestine) . . . . . . . . . . . 0.015 0.524 D 0.712 0.524 P 0.396 0.438 B 0.000 0.629 D 0.000 0.588 P 3.3 0.907 M 3.15 0.102 T -3.4 0.670 D 0.359 0.420 -1.060 0.118 T 0.000 0.000 T . . . 0.453 0.137 7.057 0.281 0.014 0.853 0.441 D c -0.242 -0.329 1.000 0.410 0.696 0.567 0 2.73 0.311 4.397 0.592 0.199 0.252 1.000 0.715 0.007 0.100 8.142 0.301 . . . 0.8082 0.3912 0.8616 0.8155 0.9298 0.7993 0.8223 0.8297 0.8205 0.7039 0.3951 0.8353 0.8278 0.9259 0.7909 0.8237 0.7869 hom 625.57 20 18 76753588 . A G 625.57 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.28;VQSLOD=13.5479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:54.16:659,54,0 18 76754466 76754466 C T exonic SALL3 synonymous SNV SALL3:NM_171999:exon2:c.C2475T:p.Y825Y 0.78 0.58 0.76 0.92 0.86 0.83 0.8245 0.6322 0.7809 0.9225 0.8083 0.8465 0.8650 0.8374 0.78 0.64 0.85 0.65 0.67 rs2472644 COSM3756219 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8260 0.6211 0.7760 0.8858 0.9264 0.8072 0.8480 0.8433 0.8371 0.7746 0.6143 0.7722 0.8974 0.9258 0.8022 0.8395 0.8163 hom 1254.53 39 18 76754466 . C T 1254.53 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=57.05;MQ0=0;QD=32.17;VQSLOD=6.9533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1288,105,0 18 76870397 76870397 G A exonic ATP9B synonymous SNV ATP9B:NM_001306085:exon3:c.G336A:p.E112E,ATP9B:NM_198531:exon3:c.G336A:p.E112E 0.12 0.29 0.075 0.023 0.1 0.018 0.0861 0.2683 0.0556 0.0181 0.0661 0.0883 0.0837 0.0280 0.15 0.27 0.094 0.18 0.066 rs492657 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0812 0.2674 0.0599 0.0355 0.0193 0.0717 0.0916 0.0860 0.0285 0.1324 0.2631 0.0811 0.0430 0.0216 0.0675 0.0921 0.0743 het 504.29 44 18 76870397 . G A 504.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.595;DP=44;Dels=0.00;FS=2.623;HRun=1;HaplotypeScore=1.9573;MQ=56.61;MQ0=0;MQRankSum=2.585;QD=11.46;ReadPosRankSum=-0.493;VQSLOD=2.6643;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,23:44:99:534,0,567 18 76873346 76873346 G A exonic ATP9B nonsynonymous SNV ATP9B:NM_001306085:exon4:c.G550A:p.A184T,ATP9B:NM_198531:exon4:c.G550A:p.A184T 0.0002 . 0.0014 . . . 0.0007 0.0005 0.0004 0 0.0003 0.0011 0 0.0001 0.0007 0.0009 0.0006 . . rs145161958 . . . . . . . . . . . . . 0.004 0.654 D 0.57 0.398 P 0.206 0.419 B 0.000 0.843 N 1 0.810 D 2.085 0.579 M -1.01 0.762 T -1.87 0.483 N 0.557 0.592 -0.140 0.792 T 0.422 0.767 T 0.038 0.581 D 4.421 0.592 24.2 0.998 0.904 0.982 0.801 D c 0.395 0.472 1.000 0.424 0.651 0.465 0 4.99 0.658 7.281 0.778 0.998 0.613 1.000 0.715 1.000 0.888 14.729 0.688 P-type ATPase\x2c A domain . . 0.0007 0.0002 0.0004 0 0 0.0006 0.0011 0.0009 0.0003 0.0016 0 0.0012 0 0 0.0020 0.0028 0 het 942.73 88 18 76873346 . G A 942.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.919;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9794;MQ=58.08;MQ0=0;MQRankSum=0.889;QD=10.71;ReadPosRankSum=1.628;VQSLOD=3.5375;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,41:88:99:973,0,1121 18 77097360 77097360 A T exonic ATP9B nonsynonymous SNV ATP9B:NM_001306085:exon19:c.A2194T:p.M732L,ATP9B:NM_198531:exon19:c.A2194T:p.M732L 0.032 0.003 0.056 0.001 0.1 0.015 0.0611 0.0170 0.0460 0.0002 0.0860 0.0852 0.0698 0.0237 0.067 0.022 0.09 0.022 0.057 rs585033 . . . . . . . . . . . . . 1.0 0.010 T 0.002 0.163 B 0.012 0.236 B 0.000 0.843 N 1.000 0.548 D -0.15 0.043 N 0.15 0.608 T -0.69 0.197 N 0.134 0.165 -0.250 0.764 T 0.100 0.373 T . . . 0.844 0.174 9.730 0.738 0.101 0.908 0.520 D c -0.432 -0.181 0.999 0.390 0.672 0.522 0 4.18 0.483 6.797 0.748 1.194 0.916 1.000 0.715 1.000 0.888 11.587 0.500 HAD-like domain|P-type ATPase\x2c cytoplasmic domain N . . 0.0614 0.0154 0.0486 0.0330 0.0001 0.0880 0.0880 0.0702 0.0241 0.0612 0.0172 0.0597 0.0397 0 0.0871 0.0876 0.0673 het 1135.66 128 18 77097360 . A T 1135.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.835;DP=128;Dels=0.00;FS=1.471;HRun=1;HaplotypeScore=4.4899;MQ=58.43;MQ0=0;MQRankSum=0.504;QD=8.87;ReadPosRankSum=-0.559;VQSLOD=4.5714;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:81,47:128:99:1166,0,2193 18 77171061 77171061 T G exonic NFATC1 synonymous SNV NFATC1:NM_001278669:exon2:c.T786G:p.P262P,NFATC1:NM_001278670:exon2:c.T786G:p.P262P,NFATC1:NM_001278672:exon2:c.T747G:p.P249P,NFATC1:NM_001278675:exon2:c.T747G:p.P249P,NFATC1:NM_006162:exon2:c.T786G:p.P262P,NFATC1:NM_172387:exon2:c.T747G:p.P249P,NFATC1:NM_172389:exon2:c.T747G:p.P249P,NFATC1:NM_172390:exon2:c.T786G:p.P262P 0.59 0.15 0.77 0.86 0.7 0.67 0.6820 0.2276 0.8568 0.8468 0.6744 0.6921 0.6825 0.6767 0.55 0.26 0.7 0.52 0.34 rs2230112 COSM3756223;COSM3756222 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6883 0.2160 0.8323 0.6890 0.8490 0.6631 0.6879 0.6946 0.6781 0.5623 0.2239 0.7788 0.6457 0.8416 0.6562 0.6858 0.6818 hom 1651.88 53 18 77171061 . T G 1651.88 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.09;MQ0=0;QD=31.17;VQSLOD=9.1573;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1685,147,0 18 77246406 77246406 T G exonic NFATC1 nonsynonymous SNV NFATC1:NM_001278673:exon8:c.T835G:p.C279G,NFATC1:NM_172388:exon8:c.T835G:p.C279G,NFATC1:NM_001278669:exon9:c.T2251G:p.C751G,NFATC1:NM_006162:exon9:c.T2251G:p.C751G,NFATC1:NM_172387:exon9:c.T2212G:p.C738G,NFATC1:NM_172389:exon9:c.T2212G:p.C738G 0.34 0.16 0.41 0.35 0.47 0.38 0.4172 0.1790 0.3848 0.3461 0.4801 0.4690 0.4576 0.3897 0.37 0.18 0.46 0.3 0.37 rs754093 COSM438403 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 0.01 0.721 D 0.872 0.459 P 0.325 0.401 B 0.001 0.402 N 0.000 0.810 P 2.765 0.810 M 2.03 0.210 T -5.1 0.849 D 0.187 0.501 -0.908 0.471 T 0.000 0.000 T . . . 1.759 0.272 14.75 0.690 0.086 0.976 0.757 D c -0.156 -0.208 1.000 0.747 0.651 0.465 0 3.49 0.389 3.897 0.557 0.952 0.539 1.000 0.715 0.017 0.128 9.691 0.391 . . . 0.4249 0.1754 0.4023 0.4998 0.3447 0.4831 0.4662 0.4687 0.3951 0.3717 0.1726 0.4212 0.4801 0.3420 0.4670 0.4581 0.4622 hom 5046.87 150 18 77246406 . T G 5046.87 Mask AC=2;AF=1.00;AN=2;DP=150;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4867;MQ=59.20;MQ0=0;QD=33.65;VQSLOD=8.9893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:150:99:5019,406,0 18 77473086 77473086 G A exonic CTDP1 synonymous SNV CTDP1:NM_001202504:exon7:c.G621A:p.T207T,CTDP1:NM_001318511:exon7:c.G978A:p.T326T,CTDP1:NM_004715:exon7:c.G978A:p.T326T,CTDP1:NM_048368:exon7:c.G978A:p.T326T 0.21 0.31 0.22 0.14 0.17 0.16 0.1837 0.2946 0.1972 0.1141 0.2113 0.1741 0.1718 0.1698 0.21 0.29 0.17 0.23 0.16 rs599554 COSM4131105 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1829 0.2949 0.2009 0.2686 0.1066 0.2138 0.1631 0.1946 0.1699 0.1999 0.2840 0.2220 0.2318 0.0922 0.2124 0.1586 0.1865 het 1005.49 89 18 77473086 . G A 1005.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.372;DP=89;Dels=0.00;FS=2.115;HRun=0;HaplotypeScore=2.5765;MQ=58.48;MQ0=0;MQRankSum=-0.720;QD=11.30;ReadPosRankSum=-2.270;VQSLOD=4.8663;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,40:89:99:1035,0,1216 18 77513721 77513721 T C exonic CTDP1 synonymous SNV CTDP1:NM_001202504:exon13:c.T2460C:p.D820D,CTDP1:NM_004715:exon13:c.T2817C:p.D939D 0.9 0.64 0.97 1. 1. 0.98 0.9666 0.7018 0.9794 0.9998 1 0.9924 0.9789 0.9874 0.9 0.71 0.99 0.55 0.8 rs626169 COSM4131107 1(thyroid) other not_specified RCV000116845.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9717 0.6990 0.9794 0.9200 0.9999 1.0000 0.9965 0.9765 0.9880 0.9120 0.7003 0.9737 0.9139 1 1 0.9974 0.9776 hom 1439.53 49 18 77513721 . T C 1439.53 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.15;MQ0=0;QD=29.38;VQSLOD=8.8709;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1473,126,0 18 77805949 77805949 A C exonic RBFA nonsynonymous SNV RBFA:NM_024805:exon7:c.A826C:p.K276Q 0.2 0.19 0.18 0.17 0.34 0.13 0.2737 0.2369 0.1268 0.1655 0.3560 0.3413 0.2827 0.1498 0.32 0.25 0.35 0.27 0.26 rs3744873 COSM4131110 1(thyroid) . . . . . . . . . . . 0.051 0.393 T 0.718 0.403 P 0.296 0.391 B 0.480 0.050 N 1 0.090 P 1.895 0.505 L 1.82 0.250 T -1.1 0.285 N 0.037 0.017 -0.977 0.357 T 0.000 0.000 T . . . -0.137 0.081 1.471 0.909 0.196 0.076 0.135 N c -0.668 -0.808 0.513 0.210 0.737 0.974 0 2.03 0.256 1.193 0.316 -0.323 0.076 0.002 0.151 0.000 0.016 5.515 0.161 . ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000266909.1|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000261126.3|ENSG00000261126.3|ENSG00000261126.3|ENSG00000261126.3|ENSG00000261126.3|ENSG00000261126.3|ENSG00000261126.3|ENSG00000141759.10|ENSG00000261126.3|ENSG00000267127.2|ENSG00000267127.2|ENSG00000261126.3|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000261126.3|ENSG00000101546.8|ENSG00000141759.10|ENSG00000261126.3|ENSG00000267127.2|ENSG00000101546.8|ENSG00000261126.3|ENSG00000261126.3|ENSG00000178184.11|ENSG00000267127.2|ENSG00000261126.3|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000261126.3|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000261126.3|ENSG00000101546.8|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000267127.2|ENSG00000261126.3|ENSG00000261126.3|ENSG00000178184.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.2722 0.2363 0.1446 0.2887 0.1657 0.3495 0.3468 0.2904 0.1549 0.3001 0.2433 0.1730 0.3377 0.1366 0.3569 0.3428 0.3133 het 1193.33 85 18 77805949 . A C 1193.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.841;DP=85;Dels=0.00;FS=6.452;HRun=0;HaplotypeScore=4.1719;MQ=59.46;MQ0=0;MQRankSum=0.943;QD=14.04;ReadPosRankSum=0.697;VQSLOD=4.9514;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,42:85:99:1223,0,1040 18 77894844 77894844 G A exonic ADNP2 synonymous SNV ADNP2:NM_014913:exon4:c.G1548A:p.P516P 0.42 0.15 0.51 0.58 0.48 0.49 0.4610 0.1920 0.5998 0.5584 0.4119 0.4655 0.4327 0.4854 0.38 0.2 0.48 0.36 0.46 rs3744877 COSM4000472 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4713 0.1923 0.5951 0.3910 0.5542 0.4143 0.4736 0.4657 0.4878 0.3920 0.1924 0.5754 0.46 0.5489 0.4201 0.4680 0.4703 het 2921.54 210 18 77894844 . G A 2921.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.418;DP=210;Dels=0.00;FS=0.525;HRun=0;HaplotypeScore=2.6984;MQ=59.53;MQ0=0;MQRankSum=0.260;QD=13.91;ReadPosRankSum=2.048;VQSLOD=6.0016;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:100,109:210:99:2952,0,2460 19 282753 282753 G A exonic PLPP2 nonsynonymous SNV PLPP2:NM_003712:exon4:c.C539T:p.A180V,PLPP2:NM_177526:exon4:c.C371T:p.A124V,PLPP2:NM_177543:exon4:c.C602T:p.A201V 0.36 0.47 0.43 0.12 0.46 0.33 0.4121 0.4678 0.4166 0.1169 0.5296 0.4392 0.3958 0.3728 0.44 0.47 0.43 0.39 0.39 rs1138439 COSM1392233;COSM1392232 1(large_intestine) . . . . . . . . . . . 0.307 0.784 T 0.032 0.212 B 0.05 0.239 B 0.001 0.395 N 0.001 0.460 P 1.045 0.269 L -0.93 0.775 T -2.9 0.678 D 0.094 0.129 -0.941 0.425 T 0.000 0.000 T . . . 1.035 0.193 10.86 0.705 0.090 0.947 0.617 D c -0.823 -0.791 0.000 0.069 0.706 0.609 0 -0.069 0.130 6.187 0.718 -0.351 0.070 1.000 0.715 0.626 0.294 8.949 0.347 Phosphatidic acid phosphatase type 2/haloperoxidase ENSG00000141934.5|ENSG00000141934.5|ENSG00000141934.5|ENSG00000141934.5|ENSG00000141934.5 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Thyroid 0.4148 0.4718 0.4169 0.4735 0.1188 0.5369 0.4336 0.4268 0.3730 0.4498 0.4789 0.4151 0.5232 0.1079 0.5399 0.4497 0.4395 het 1214.70 103 19 282753 . G A 1214.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.230;DP=103;Dels=0.00;FS=1.628;HRun=0;HaplotypeScore=2.7565;MQ=59.58;MQ0=0;MQRankSum=-0.164;QD=11.79;ReadPosRankSum=-0.392;VQSLOD=6.6165;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,48:103:99:1245,0,1258 19 422238 422238 G T exonic SHC2 synonymous SNV SHC2:NM_012435:exon11:c.C1528A:p.R510R 0.13 0.043 0.088 0.31 0.026 0.22 0.0813 0.0539 0.1408 0.3284 0.0415 0.0203 0.0625 0.1794 0.029 0.045 0.021 0.076 . rs2287960 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0771 0.0477 0.1238 0.0301 0.3247 0.0354 0.0176 0.0581 0.1651 0.0487 0.0510 0.1112 0.0265 0.3019 0.0415 0.0183 0.0540 het 507.80 26 19 422238 . G T 507.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.160;DP=26;Dels=0.00;FS=1.927;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.430;QD=19.53;ReadPosRankSum=0.152;VQSLOD=5.2472;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,20:26:99:538,0,104 19 498524 498524 A G exonic MADCAM1 synonymous SNV MADCAM1:NM_130760:exon3:c.A366G:p.P122P,MADCAM1:NM_130762:exon3:c.A366G:p.P122P 0.63 0.83 0.44 0.75 0.46 0.57 0.5284 0.7691 0.4723 0.7733 0.4849 0.4686 0.4881 0.5585 0.56 0.77 0.46 0.61 0.35 rs2302217 COSM439965 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5118 0.7630 0.4588 0.4608 0.7631 0.4778 0.4608 0.4702 0.5387 0.5646 0.7643 0.5155 0.4702 0.7544 0.4882 0.4546 0.4959 hom 1355.85 50 19 498524 . A G 1355.85 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.73;MQ0=0;QD=27.12;VQSLOD=7.9918;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1389,111,0 19 501738 501738 C A exonic MADCAM1 nonsynonymous SNV MADCAM1:NM_130760:exon4:c.C737A:p.P246Q . . . . . . 0.0481 0.3008 0.0341 0.0781 0.0123 0.0175 0.0326 0.0547 . . . 0.13 0.0082 rs1063736 COSM1129758 4(urinary_tract);3(pancreas);1(liver);1(skin);1(prostate);4(thyroid);21(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . 0.061 0.371 T 0.042 0.201 B 0.038 0.220 B . . . 1 0.090 P 0.805 0.203 L 2.83 0.108 T -2.45 0.535 N 0.182 0.222 -0.947 0.416 T 0.014 0.055 T . . . -0.169 0.079 1.273 0.555 0.052 0.020 0.060 N c -1.551 -1.665 0.998 0.368 0.646 0.450 0 -5.65 0.022 -2.636 0.009 -0.074 0.119 0.000 0.063 0.000 0.016 0.538 0.006 . . . . . . . . . . . . 0.1111 0.0974 0.1491 0.0625 0.1758 0.1220 0.1202 0.0938 het 147.14 18 19 501738 . C A 147.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.639;DP=18;Dels=0.00;FS=1.913;HRun=0;HaplotypeScore=2.7317;MQ=57.64;MQ0=0;MQRankSum=-0.047;QD=8.17;ReadPosRankSum=1.826;VQSLOD=3.2790;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:177,0,293 19 501743 501743 T C exonic MADCAM1 nonsynonymous SNV MADCAM1:NM_130760:exon4:c.T742C:p.S248P . . . . . . 0.0610 0.3649 0.0397 0.1062 0.0124 0.0214 0.0367 0.0711 . . . 0.13 0.074 rs1140822 COSM1750898 2(urinary_tract);1(oesophagus);2(thyroid);21(upper_aerodigestive_tract) . . . . . . . . . . . 0.382 0.111 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 2.91 0.100 T 0.16 0.052 N 0.137 0.159 -0.932 0.439 T 0.000 0.000 T . . . -0.048 0.089 2.150 0.585 0.059 0.000 0.001 N c -1.393 -1.446 0.940 0.274 0.646 0.450 0 -2.51 0.060 -0.327 0.079 -0.729 0.036 0.000 0.063 0.000 0.016 2.775 0.050 . ENSG00000115255.6 Brain_Cerebellar_Hemisphere . . . . . . . . . . . . . . . . . het 191.81 16 19 501743 . T C 191.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.468;DP=16;Dels=0.00;FS=5.021;HRun=1;HaplotypeScore=2.7317;MQ=57.34;MQ0=0;MQRankSum=0.263;QD=11.99;ReadPosRankSum=1.523;VQSLOD=3.6028;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:222,0,180 19 504830 504830 C T exonic MADCAM1 synonymous SNV MADCAM1:NM_130762:exon4:c.C753T:p.T251T,MADCAM1:NM_130760:exon5:c.C1014T:p.T338T 0.0026 0.0008 0.0058 . 0.007 0.001 0.0052 0.0009 0.0030 0 0.0006 0.0083 0.0045 0.0018 . . . 0.011 . rs7246543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0049 0.0011 0.0023 0.0072 0 0.0006 0.0085 0.0062 0.0017 0.0048 0.0012 0.0024 0.0167 0 0.0006 0.0085 0.0031 het 1256.43 89 19 504830 . C T 1256.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.063;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3652;MQ=59.48;MQ0=0;MQRankSum=-1.391;QD=14.12;ReadPosRankSum=0.308;VQSLOD=5.4220;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,45:89:99:1286,0,1290 19 549678 549678 A G exonic GZMM nonsynonymous SNV GZMM:NM_001258351:exon5:c.A544G:p.R182G,GZMM:NM_005317:exon5:c.A661G:p.R221G 1. 1. 0.99 1. 0.99 1. 0.9929 0.9989 0.9980 1 0.9788 0.9903 0.9967 0.9973 0.99 1. 0.99 1. 0.9 rs1599882 COSM4132495 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.117 0.192 N 1 0.090 P -2.41 0.001 N -0.07 0.638 T 6.22 0.000 N 0.077 0.393 -0.906 0.473 T 0.000 0.000 T . . . -0.923 0.035 0.023 0.104 0.001 0.001 0.005 N c -1.860 -1.676 0.000 0.012 0.554 0.283 0 1.17 0.199 0.039 0.137 -0.435 0.058 0.000 0.063 0.001 0.043 2.950 0.055 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9926 0.9993 0.9973 0.9998 1 0.9791 0.9901 0.9883 0.9974 0.9917 0.9984 0.9988 1 1 0.9754 0.9908 0.9817 hom 2257.08 77 19 549678 . A G 2257.08 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.000;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5717;MQ=59.43;MQ0=0;MQRankSum=-0.182;QD=29.31;ReadPosRankSum=1.550;VQSLOD=7.6094;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,76:77:99:2290,165,0 19 603832 603832 C T exonic HCN2 synonymous SNV HCN2:NM_001194:exon2:c.C921T:p.I307I 0.081 0.0068 0.25 0.037 0.11 0.081 0.1095 0.0213 0.3023 0.0449 0.1155 0.1019 0.1007 0.0917 0.077 0.022 0.1 0.054 0.049 rs56180027 COSM3757373 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1174 0.0194 0.2873 0.0419 0.0474 0.1130 0.1051 0.1117 0.0922 0.0904 0.0235 0.2578 0.0464 0.0586 0.1167 0.1174 0.1037 het 1962.81 140 19 603832 . C T 1962.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.087;DP=140;Dels=0.00;FS=0.636;HRun=1;HaplotypeScore=4.1387;MQ=58.05;MQ0=0;MQRankSum=0.133;QD=14.02;ReadPosRankSum=-0.129;VQSLOD=4.5455;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,72:140:99:1993,0,1854 19 605171 605171 T C exonic HCN2 synonymous SNV HCN2:NM_001194:exon3:c.T1167C:p.P389P 0.61 0.59 0.54 0.77 0.6 0.51 0.6056 0.5680 0.5280 0.7591 0.6106 0.6276 0.5753 0.5151 0.61 0.56 0.64 0.054 0.64 rs12981860 COSM4132715 1(kidney);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6051 0.5632 0.5258 0.7046 0.7635 0.6185 0.6235 0.5907 0.5187 0.6072 0.5550 0.5133 0.6933 0.7571 0.6088 0.6255 0.5924 het 2449.46 170 19 605171 . T C 2449.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.190;DP=170;Dels=0.00;FS=9.097;HRun=2;HaplotypeScore=1.7331;MQ=57.74;MQ0=0;MQRankSum=1.096;QD=14.41;ReadPosRankSum=1.222;VQSLOD=3.4366;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,85:170:99:2479,0,2151 19 651684 651684 C T exonic RNF126 nonsynonymous SNV RNF126:NM_194460:exon4:c.G370A:p.A124T 0.0068 0.0008 . 0.001 0.027 0.0051 0.0199 0.0066 0.0085 0.0043 0.0368 0.0282 0.0220 0.0088 0.014 0.0046 0.019 . . rs61754469 COSM3693184 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.165 0.232 T 0.078 0.229 B 0.016 0.166 B 0.000 0.843 D 1.000 0.530 D 2.11 0.588 M 2.52 0.142 T -1.37 0.340 N 0.149 0.176 -1.070 0.095 T 0.016 0.064 T . . . 3.809 0.515 23.4 0.996 0.729 0.968 0.707 D c -0.172 -0.062 0.887 0.257 0.672 0.522 0 3.39 0.378 5.688 0.677 0.783 0.315 1.000 0.715 0.964 0.448 9.859 0.401 . . . 0.0134 0.0038 0.0050 0.0106 0.0027 0.0242 0.0207 0.0123 0.0054 0.0164 0.0028 0.0098 0.0167 0.0019 0.0248 0.0244 0.0154 het 88.78 10 19 651684 . C T 88.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=57.66;MQ0=0;MQRankSum=0.731;QD=8.88;ReadPosRankSum=-0.731;VQSLOD=5.1756;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:1,4:10:13.61:119,0,14 19 687142 687142 G A exonic PRSS57 nonsynonymous SNV PRSS57:NM_001308209:exon4:c.C425T:p.P142L,PRSS57:NM_214710:exon4:c.C428T:p.P143L 1. 1. 0.99 1. 0.99 1. 0.9960 0.9986 0.9963 1 0.9983 0.9940 0.9973 0.9989 0.99 1. 0.99 0.99 0.75 rs8102982 COSM4132746 1(thyroid) . . . . . . . . . . . . . . 0.002 0.090 B 0.0 0.013 B 0.009 0.306 N 0.995 0.233 P -2.35 0.001 N . . . . . . 0.11 0.348 -0.918 0.459 T 0.000 0.000 T . . . -0.005 0.093 2.537 0.558 0.053 0.010 0.039 N c -1.506 -1.248 0.001 0.080 0.570 0.322 0 3.59 0.401 2.295 0.430 0.108 0.203 1.000 0.715 0.003 0.074 8.116 0.299 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9958 0.9985 0.9968 0.9987 1 0.9985 0.9929 0.9962 0.9983 0.9960 0.9985 0.9928 1 1 0.9986 0.9937 0.9949 hom 536.70 17 19 687142 . G A 536.70 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=31.57;VQSLOD=8.7643;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:570,45,0 19 691909 691909 T C exonic PRSS57 synonymous SNV PRSS57:NM_001308209:exon3:c.A327G:p.T109T,PRSS57:NM_214710:exon3:c.A330G:p.T110T 0.68 0.67 0.63 0.63 0.8 0.65 0.7338 0.6844 0.6135 0.6480 0.8140 0.7771 0.7740 0.6593 0.75 0.69 0.79 0.63 0.75 rs4375794 COSM4132748 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7438 0.6806 0.6005 0.6540 0.6438 0.8041 0.7833 0.7473 0.6628 0.7524 0.6875 0.6651 0.6433 0.6512 0.8038 0.7942 0.7802 hom 1216.76 40 19 691909 . T C 1216.76 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=30.42;VQSLOD=9.0221;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1250,108,0 19 757234 757234 C T exonic MISP synonymous SNV MISP:NM_173481:exon2:c.C288T:p.R96R 0.0082 0.0008 0.0043 . 0.033 0.0041 0.0164 0.0038 0.0055 0 0.0419 0.0225 0.0205 0.0058 0.015 0.0032 0.022 . 0.041 rs34384654 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0164 0.0035 0.0055 0.0137 0 0.0385 0.0228 0.0155 0.0056 0.0194 0.0036 0.0072 0.0166 0 0.0395 0.0262 0.0286 het 902.28 69 19 757234 . C T 902.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.138;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=59.67;MQ0=0;MQRankSum=-1.219;QD=13.08;ReadPosRankSum=-0.511;VQSLOD=5.6504;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,36:69:99:932,0,884 19 868115 868115 C T exonic MED16 nonsynonymous SNV MED16:NM_005481:exon16:c.G2620A:p.E874K 0.24 0.43 0.21 0.033 0.28 0.17 0.2577 0.4093 0.1350 0.0313 0.2424 0.2979 0.2419 0.2164 0.32 0.39 0.28 0.24 0.2 rs13090 . . . . . . . . . . . . . 0.056 0.381 T 0.008 0.135 B 0.001 0.040 B 0.000 0.002 U 1 0.090 P 0 0.065 N 1.43 0.330 T -0.03 0.075 N 0.141 0.165 -0.919 0.458 T 0.000 0.000 T . . . 0.901 0.180 10.08 0.946 0.245 0.073 0.131 N c -1.241 -1.336 1.000 0.414 0.672 0.522 0 -0.498 0.114 -1.335 0.027 -0.289 0.083 0.000 0.063 0.001 0.043 . . . ENSG00000197766.3|ENSG00000175221.10 Whole_Blood|Whole_Blood 0.2385 0.4073 0.1368 0.2437 0.0318 0.2219 0.2913 0.2472 0.2080 0.2937 0.4022 0.1615 0.2384 0.0395 0.2325 0.2841 0.2469 het 133.21 18 19 868115 . C T 133.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.091;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9993;MQ=60.00;MQ0=0;MQRankSum=-0.725;QD=7.40;ReadPosRankSum=1.268;VQSLOD=5.0928;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,7:18:99:163,0,255 19 871987 871987 G A exonic MED16 synonymous SNV MED16:NM_005481:exon12:c.C2037T:p.T679T 0.17 0.28 0.17 0.023 0.23 0.12 0.2007 0.2553 0.1025 0.0208 0.1821 0.2487 0.1958 0.1472 0.25 0.25 0.24 0.14 0.25 rs78047294 COSM3773927;COSM3773928 1(kidney);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1924 0.2535 0.1085 0.2280 0.0222 0.1686 0.2507 0.1978 0.1452 0.2200 0.2506 0.1095 0.2207 0.0298 0.1653 0.2448 0.1929 het 555.06 54 19 871987 . G A 555.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.660;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.32;MQ0=0;MQRankSum=-1.364;QD=10.28;ReadPosRankSum=0.009;VQSLOD=5.9150;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,22:54:99:585,0,877 19 875389 875389 G A exonic MED16 synonymous SNV MED16:NM_005481:exon10:c.C1626T:p.T542T 0.18 0.29 0.19 0.018 0.26 0.12 0.2083 0.2702 0.1063 0.0113 0.1965 0.2583 0.2082 0.1503 0.26 0.28 0.25 0.17 0.21 rs11546307 COSM4132816;COSM4132817 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2025 0.2738 0.1138 0.2310 0.0115 0.1937 0.2624 0.2099 0.1504 0.2371 0.2733 0.1265 0.2152 0.0130 0.1924 0.2595 0.2043 het 832.02 41 19 875389 . G A 832.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.275;DP=41;Dels=0.00;FS=3.995;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.855;QD=20.29;ReadPosRankSum=2.059;VQSLOD=4.5605;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,28:41:99:862,0,352 19 885818 885818 A G exonic MED16 synonymous SNV MED16:NM_005481:exon5:c.T831C:p.F277F 0.62 0.66 0.53 0.67 0.61 0.6 0.6015 0.6293 0.4861 0.6727 0.5755 0.6162 0.5935 0.5793 0.62 0.63 0.61 0.61 0.57 rs1060442 COSM3757450;COSM3757449 1(oesophagus);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5959 0.6287 0.4956 0.5602 0.6709 0.5752 0.6216 0.5878 0.5814 0.6120 0.6231 0.5286 0.5 0.6671 0.5743 0.6160 0.6010 het 1379.58 82 19 885818 . A G 1379.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.364;DP=82;Dels=0.00;FS=2.076;HRun=3;HaplotypeScore=3.4160;MQ=59.72;MQ0=0;MQRankSum=0.211;QD=16.82;ReadPosRankSum=0.437;VQSLOD=6.0023;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,49:82:99:1410,0,782 19 899444 899444 C T exonic R3HDM4 synonymous SNV R3HDM4:NM_138774:exon7:c.G699A:p.S233S 0.082 0.016 0.11 0.011 0.18 0.12 0.1457 0.0356 0.0788 0.0060 0.1487 0.1965 0.1889 0.1266 0.14 0.04 0.19 0.054 0.17 rs2965284 COSM440709 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1443 0.0311 0.0799 0.2418 0.0070 0.1462 0.1957 0.1618 0.1270 0.1277 0.0329 0.0847 0.2285 0.0087 0.1440 0.1905 0.1591 het 965.11 73 19 899444 . C T 965.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.146;DP=73;Dels=0.00;FS=14.046;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;MQRankSum=-0.459;QD=13.22;ReadPosRankSum=1.078;VQSLOD=4.1952;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,34:73:99:995,0,912 19 965043 965043 T C exonic ARID3A synonymous SNV ARID3A:NM_005224:exon6:c.T1161C:p.N387N 0.94 0.87 0.91 1. 0.98 0.96 0.9575 0.8881 0.8520 0.9999 0.9944 0.9772 0.9723 0.9581 0.95 0.89 0.98 0.96 0.95 rs12608658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9563 0.8874 0.8635 0.9800 0.9999 0.9948 0.9773 0.9611 0.9563 0.9532 0.8858 0.8699 0.9868 1 0.9951 0.9802 0.9735 hom 2249.14 82 19 965043 . T C 2249.14 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.56;MQ0=0;QD=27.43;VQSLOD=8.0281;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2282,186,0 19 966693 966693 C T exonic ARID3A synonymous SNV ARID3A:NM_005224:exon7:c.C1320T:p.A440A 0.71 0.67 0.61 0.57 0.87 0.84 0.7977 0.7235 0.5731 0.5907 0.7916 0.8686 0.8164 0.8256 0.82 0.71 0.87 0.41 0.61 rs6510986 COSM3757508 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7882 0.7154 0.5859 0.8933 0.5853 0.7864 0.8714 0.8132 0.8254 0.7864 0.7121 0.6304 0.9007 0.5902 0.7896 0.8559 0.7955 hom 1275.66 36 19 966693 . C T 1275.66 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.44;VQSLOD=13.9771;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1309,105,0 19 971933 971933 A G exonic ARID3A synonymous SNV ARID3A:NM_005224:exon9:c.A1650G:p.G550G 0.59 0.62 0.55 0.49 0.77 0.52 0.6590 0.6299 0.5069 0.4693 0.6707 0.7486 0.6561 0.5383 0.73 0.64 0.77 0.47 . rs1051504 COSM3749582 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6649 0.6341 0.5251 0.7654 0.4670 0.6896 0.7584 0.7070 0.5372 0.6893 0.6337 0.5725 0.8033 0.4660 0.6883 0.7509 0.6767 hom 1791.65 54 19 971933 . A G 1791.65 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.2452;MQ=58.76;MQ0=0;QD=33.18;VQSLOD=8.9244;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1825,144,0 19 990281 990281 G A exonic WDR18 nonsynonymous SNV WDR18:NM_024100:exon4:c.G514A:p.A172T 0.89 1. 0.77 0.77 0.96 0.89 0.8930 0.9869 0.6867 0.7510 0.9206 0.9365 0.8854 0.8731 0.95 0.99 0.94 0.71 0.75 rs2158367 COSM3757513 3(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.497 N 1.000 0.189 P -1.615 0.004 N 2.37 0.160 T . . . 0.018 0.003 -0.976 0.359 T 0.000 0.000 T . . . 2.620 0.376 20.3 0.699 0.088 0.227 0.216 N c -0.766 -0.515 0.678 0.224 0.707 0.730 0 4.12 0.473 3.509 0.529 0.163 0.245 1.000 0.715 0.963 0.446 8.866 0.343 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.8825 0.9869 0.6999 0.9310 0.7481 0.9222 0.9386 0.8986 0.8739 0.9289 0.9860 0.7351 0.9371 0.7522 0.9203 0.9290 0.9047 hom 891.70 34 19 990281 . G A 891.70 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=26.23;VQSLOD=7.7327;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:72.19:925,72,0 19 991968 991968 T C exonic WDR18 synonymous SNV WDR18:NM_024100:exon8:c.T945C:p.N315N 0.39 0.48 0.27 0.41 0.3 0.45 0.4028 0.5483 0.2759 0.4581 0.4038 0.3784 0.3843 0.4647 0.35 0.46 0.29 0.033 0.15 rs1127043 COSM3749586 1(skin);2(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3202 0.4667 0.2191 0.4127 0.3813 0.2696 0.2975 0.3299 0.4131 0.3524 0.4804 0.2667 0.4228 0.4169 0.2880 0.2923 0.3140 hom 487.38 17 19 991968 . T C 487.38 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=56.07;MQ0=0;QD=28.67;VQSLOD=6.9949;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.12:520,42,0 19 1003158 1003158 C T exonic GRIN3B synonymous SNV GRIN3B:NM_138690:exon2:c.C456T:p.A152A 0.14 0.32 0.05 0.12 0.061 0.055 0.1737 0.3969 0.1180 0.1991 0.1760 0.1406 0.1455 0.1346 0.13 0.25 0.067 0.12 0.082 rs35163060 COSM3756238 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0863 0.2909 0.0538 0.0659 0.1304 0.0849 0.0714 0.0675 0.0569 0.1368 0.2873 0.0561 0.05 0.1309 0.0756 0.0729 0.1 het 63.13 11 19 1003158 . C T 63.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.978;DP=11;Dels=0.00;FS=3.090;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=5.74;ReadPosRankSum=-0.382;VQSLOD=4.4833;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,3:11:93.13:93,0,187 19 1004710 1004710 C T exonic GRIN3B nonsynonymous SNV GRIN3B:NM_138690:exon3:c.C1210T:p.R404W 0.36 0.4 0.36 0.093 0.52 0.43 0.4660 0.4218 0.3771 0.0862 0.4972 0.5311 0.4853 0.4641 0.48 0.4 0.52 0.39 0.34 rs4807399 COSM3749445 15(soft_tissue);8(large_intestine) . . . . . . . . . . . 0.06 0.373 T 0.033 0.190 B 0.003 0.080 B 0.003 0.009 N 1 0.090 P 2.56 0.750 M 2.72 0.120 T 0.9 0.016 N 0.073 0.062 -0.902 0.478 T 0.000 0.000 T . . . -0.067 0.087 1.987 0.825 0.137 0.052 0.109 N c -1.599 -1.660 0.014 0.126 0.581 0.326 0 -3.29 0.047 -0.942 0.040 -0.672 0.039 0.000 0.063 0.000 0.016 1.740 0.027 . ENSG00000064666.10|ENSG00000116032.5|ENSG00000116032.5 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Testis 0.4443 0.3902 0.3614 0.4776 0.0805 0.4810 0.5244 0.4474 0.4546 0.4509 0.3980 0.3675 0.4073 0.0742 0.4856 0.5195 0.4638 het 271.82 27 19 1004710 . C T 271.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.147;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.27;MQ0=0;MQRankSum=0.024;QD=10.07;ReadPosRankSum=0.854;VQSLOD=5.8669;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:302,0,422 19 1004724 1004724 A G exonic GRIN3B synonymous SNV GRIN3B:NM_138690:exon3:c.A1224G:p.P408P 0.27 0.32 0.24 0.089 0.37 0.3 0.3327 0.3287 0.2997 0.0744 0.3950 0.3731 0.3449 0.3080 0.35 0.32 0.37 0.28 0.3 rs11880849 COSM3756240 5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3263 0.3121 0.2954 0.3457 0.0776 0.3871 0.3699 0.3239 0.3074 0.3383 0.3214 0.2816 0.3079 0.0694 0.3861 0.3691 0.3508 het 485.69 41 19 1004724 . A G 485.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.969;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;MQRankSum=-0.196;QD=11.85;ReadPosRankSum=-0.274;VQSLOD=6.3059;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,21:41:99:516,0,573 19 1004740 1004740 T C exonic GRIN3B nonsynonymous SNV GRIN3B:NM_138690:exon3:c.T1240C:p.W414R 0.68 0.8 0.54 0.5 0.72 0.77 0.6898 0.7912 0.5220 0.4967 0.6944 0.7156 0.6834 0.7410 0.74 0.79 0.71 0.64 0.61 rs2240157 COSM3756241 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.387 0.109 T 0.0 0.026 B 0.0 0.013 B 0.024 0.263 N 1 0.090 P -2.645 0.000 N 0.88 0.460 T 3.18 0.001 N 0.044 0.024 -0.988 0.332 T 0.000 0.000 T . . . -1.761 0.012 0.002 0.439 0.033 0.003 0.016 N c -1.417 -1.282 0.022 0.134 0.581 0.326 0 3.35 0.373 1.286 0.327 -0.623 0.043 0.046 0.210 0.000 0.016 9.816 0.398 . ENSG00000064666.10|ENSG00000116032.5|ENSG00000065268.6|ENSG00000116032.5|ENSG00000267020.1 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Testis|Thyroid 0.6815 0.7890 0.5266 0.7983 0.4926 0.7007 0.7124 0.6896 0.7436 0.7189 0.7963 0.5549 0.7833 0.5137 0.7121 0.7057 0.7150 het 851.46 61 19 1004740 . T C 851.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.895;DP=61;Dels=0.00;FS=1.145;HRun=1;HaplotypeScore=0.0000;MQ=58.16;MQ0=0;MQRankSum=-0.123;QD=13.96;ReadPosRankSum=-1.866;VQSLOD=4.4118;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,34:61:99:881,0,764 19 1004823 1004823 G A exonic GRIN3B synonymous SNV GRIN3B:NM_138690:exon3:c.G1323A:p.A441A 0.26 0.32 0.22 0.089 0.35 0.29 0.3152 0.3147 0.2840 0.0723 0.3789 0.3503 0.3142 0.2983 0.34 0.32 0.35 0.16 0.39 rs4806908 COSM3756242 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3140 0.3100 0.2801 0.3297 0.0778 0.3788 0.3509 0.3041 0.3031 0.3263 0.3175 0.2620 0.3033 0.0698 0.3761 0.3511 0.3354 het 1148.02 104 19 1004823 . G A 1148.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.942;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6655;MQ=56.76;MQ0=0;MQRankSum=-0.660;QD=11.04;ReadPosRankSum=-2.113;VQSLOD=3.4130;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,47:104:99:1178,0,1504 19 1004896 1004896 - CGTT exonic GRIN3B frameshift insertion GRIN3B:NM_138690:exon3:c.1396_1397insCGTT:p.G466Afs*17 0.16 0.094 0.2 0.071 0.29 0.17 0.2448 0.1173 0.2546 0.0603 0.2898 0.2960 0.25 0.1892 0.24 0.12 0.3 0.043 0.2 rs10666583 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2507 0.1148 0.2557 0.2942 0.0645 0.2948 0.3000 0.2590 0.1945 0.2321 0.1280 0.2351 0.2649 0.0612 0.2919 0.2942 0.2648 het 2476.27 97 19 1004896 . G GCGTT 2476.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.884;DP=97;FS=6.952;HRun=0;HaplotypeScore=461.3256;MQ=55.82;MQ0=0;MQRankSum=-2.050;QD=25.53;ReadPosRankSum=0.353;set=variant2 GT:AD:DP:GQ:PL 0/1:64,25:97:99:2515,0,3271 19 1005230 1005230 C T exonic GRIN3B nonsynonymous SNV GRIN3B:NM_138690:exon3:c.C1730T:p.T577M 0.35 0.51 0.25 0.17 0.38 0.33 0.3698 0.5062 0.3205 0.1563 0.4433 0.3883 0.3522 0.3277 0.43 0.51 0.39 0.3 0.47 rs2240158 COSM3756243 1(breast);13(soft_tissue);1(large_intestine);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.036 0.194 B 0.004 0.093 B 0.000 0.843 N 0.111 0.359 P -1.905 0.002 N 0.62 0.533 T 3.82 0.001 N 0.056 0.039 -0.916 0.461 T 0.000 0.000 T . . . 1.229 0.213 11.90 0.902 0.189 0.187 0.201 N c -0.935 -0.644 0.612 0.218 0.646 0.450 0 4.53 0.548 4.139 0.575 0.006 0.137 1.000 0.715 0.982 0.498 9.111 0.357 Ionotropic glutamate receptor ENSG00000116032.5|ENSG00000116032.5|ENSG00000116032.5|ENSG00000116032.5|ENSG00000116032.5|ENSG00000116032.5 Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3657 0.5097 0.3145 0.3530 0.1610 0.4441 0.3886 0.3452 0.3328 0.4192 0.5157 0.3014 0.3233 0.1531 0.4335 0.3980 0.4078 het 1240.07 100 19 1005230 . C T 1240.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.062;DP=100;Dels=0.00;FS=3.726;HRun=0;HaplotypeScore=1.9912;MQ=58.93;MQ0=0;MQRankSum=0.035;QD=12.40;ReadPosRankSum=-0.387;VQSLOD=6.3074;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,47:100:99:1270,0,1559 19 1005531 1005531 G C exonic GRIN3B synonymous SNV GRIN3B:NM_138690:exon3:c.G2031C:p.L677L 0.23 0.13 0.23 0.17 0.37 0.3 0.3454 0.1717 0.3289 0.1763 0.4596 0.3884 0.3571 0.3247 0.3 0.17 0.37 0.14 0.42 rs12973948 COSM3756244 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3282 0.1557 0.2953 0.3476 0.1622 0.4346 0.3740 0.3245 0.3000 0.3099 0.1661 0.2768 0.3179 0.1528 0.4244 0.3808 0.3830 het 683.26 44 19 1005531 . G C 683.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.153;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.48;MQ0=0;MQRankSum=-0.695;QD=15.53;ReadPosRankSum=1.615;VQSLOD=6.1025;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,24:44:99:713,0,580 19 1011894 1011894 G A exonic TMEM259 synonymous SNV TMEM259:NM_001033026:exon6:c.C939T:p.I313I,TMEM259:NM_033420:exon6:c.C939T:p.I313I 0.044 0.11 0.013 . 0.018 0.048 0.0314 0.1279 0.0109 0.0001 0.0156 0.0229 0.0254 0.0474 0.05 0.11 0.019 0.033 0.033 rs73497158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0279 0.1195 0.0131 0.0205 0.0002 0.0173 0.0227 0.0206 0.0455 0.0467 0.1169 0.0132 0.0132 0 0.0155 0.0230 0.0173 het 430.91 48 19 1011894 . G A 430.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.757;DP=48;Dels=0.00;FS=2.835;HRun=2;HaplotypeScore=2.3987;MQ=58.73;MQ0=0;MQRankSum=-0.458;QD=8.98;ReadPosRankSum=-0.287;VQSLOD=5.5101;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,18:48:99:461,0,881 19 1014398 1014398 A G exonic TMEM259 synonymous SNV TMEM259:NM_001033026:exon2:c.T300C:p.H100H,TMEM259:NM_033420:exon2:c.T300C:p.H100H 0.68 0.82 0.52 0.53 0.68 0.74 0.6579 0.8004 0.5097 0.5229 0.6271 0.6694 0.6498 0.7097 0.71 0.79 0.67 0.67 0.59 rs7146 COSM3721039 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6483 0.7998 0.5122 0.7206 0.5191 0.6243 0.6688 0.6548 0.7130 0.6918 0.8015 0.5537 0.7086 0.5427 0.6331 0.6668 0.6660 het 436.82 35 19 1014398 . A G 436.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.710;DP=35;Dels=0.00;FS=12.225;HRun=0;HaplotypeScore=0.8321;MQ=57.31;MQ0=0;MQRankSum=0.380;QD=12.48;ReadPosRankSum=-0.809;VQSLOD=3.5469;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,17:35:99:467,0,548 19 1036552 1036552 T C exonic CNN2 synonymous SNV CNN2:NM_201277:exon5:c.T528C:p.C176C,CNN2:NM_001303499:exon6:c.T612C:p.C204C,CNN2:NM_001303501:exon6:c.T708C:p.C236C,CNN2:NM_004368:exon6:c.T645C:p.C215C 0.83 0.76 0.9 0.84 0.86 0.84 0.8521 0.7652 0.9030 0.8401 0.7621 0.8653 0.8241 0.8618 0.84 0.76 0.87 0.85 0.87 rs2304262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8562 0.7640 0.9016 0.9049 0.8404 0.7648 0.8703 0.8548 0.8610 0.8289 0.7796 0.9081 0.9404 0.8201 0.7632 0.8657 0.8508 hom 3460.36 125 19 1036552 . T C 3460.36 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1637;MQ=59.08;MQ0=0;QD=27.68;VQSLOD=6.8488;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3459,286,0 19 1042809 1042809 A G exonic ABCA7 nonsynonymous SNV ABCA7:NM_019112:exon7:c.A563G:p.E188G 0.4 0.17 0.63 0.44 0.45 0.47 0.4838 0.2174 0.7311 0.4379 0.5111 0.4755 0.5045 0.5223 0.39 0.22 0.47 0.38 0.52 rs3764645 COSM3720665 1(skin);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.647 0.049 T 0.358 0.320 B 0.058 0.250 B . . . 1 0.090 P 1.735 0.450 L -2.13 0.864 D -0.87 0.236 N 0.102 0.144 -0.953 0.405 T 0.000 0.000 T . . . 0.623 0.153 8.312 0.810 0.130 0.016 0.052 N c -1.143 -1.170 1.000 0.443 0.696 0.567 0 -0.62 0.109 -2.577 0.010 -0.292 0.083 0.000 0.063 0.118 0.195 4.106 0.094 . ENSG00000116032.5|ENSG00000064687.8 Adipose_Subcutaneous|Whole_Blood 0.4975 0.2123 0.7107 0.5020 0.4290 0.5170 0.4744 0.5043 0.5158 0.4111 0.2245 0.6766 0.5132 0.4202 0.5063 0.4734 0.5072 hom 1587.44 48 19 1042809 . A G 1587.44 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;QD=33.07;VQSLOD=9.7139;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1620,126,0 19 1047161 1047161 A G exonic ABCA7 synonymous SNV ABCA7:NM_019112:exon15:c.A1851G:p.G617G 0.7 0.61 0.77 0.81 0.6 0.74 0.6784 0.6472 0.8378 0.8154 0.6630 0.6248 0.6788 0.7284 0.62 0.65 0.61 0.63 0.57 rs3752237 COSM3756271 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6764 0.6305 0.8207 0.7013 0.8145 0.6499 0.6069 0.6713 0.7142 0.6348 0.6318 0.7924 0.6887 0.7862 0.6567 0.6038 0.6524 hom 741.47 24 19 1047161 . A G 741.47 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58.24;MQ0=0;QD=30.89;VQSLOD=8.8939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:60.19:774,60,0 19 1049269 1049269 G A exonic ABCA7 synonymous SNV ABCA7:NM_019112:exon18:c.G2385A:p.L795L 0.24 0.18 0.12 0.39 0.17 0.33 0.1781 0.1738 0.1040 0.3916 0.1303 0.1415 0.1478 0.3015 0.15 0.17 0.14 0.15 0.098 rs4147914 COSM438473 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1736 0.1678 0.1070 0.2232 0.3965 0.1306 0.1372 0.1614 0.2703 0.1589 0.1644 0.1146 0.2086 0.3752 0.1326 0.1410 0.1414 het 1079.73 110 19 1049269 . G A 1079.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.593;DP=110;Dels=0.00;FS=1.572;HRun=0;HaplotypeScore=2.8633;MQ=59.07;MQ0=0;MQRankSum=1.093;QD=9.82;ReadPosRankSum=-1.174;VQSLOD=5.9144;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,42:110:99:1110,0,1784 19 1049305 1049305 C A exonic ABCA7 synonymous SNV ABCA7:NM_019112:exon18:c.C2421A:p.V807V 0.2 0.12 0.28 0.37 0.12 0.16 0.1792 0.1292 0.3462 0.3766 0.1271 0.1363 0.1923 0.1790 0.13 0.12 0.14 0.21 0.098 rs4147915 COSM438474 2(haematopoietic_and_lymphoid_tissue);1(urinary_tract);2(kidney);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1831 0.1278 0.3328 0.0828 0.3668 0.1206 0.1413 0.1676 0.1731 0.1501 0.1252 0.2835 0.1126 0.3607 0.1078 0.1446 0.1557 het 1470.05 99 19 1049305 . C A 1470.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.832;DP=99;Dels=0.00;FS=5.596;HRun=0;HaplotypeScore=4.5692;MQ=57.82;MQ0=0;MQRankSum=0.218;QD=14.85;ReadPosRankSum=-1.009;VQSLOD=3.6253;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,60:99:99:1500,0,951 19 1052005 1052005 C T exonic ABCA7 synonymous SNV ABCA7:NM_019112:exon22:c.C3027T:p.A1009A 0.38 0.33 0.41 0.34 0.42 0.43 0.4256 0.3544 0.4578 0.3341 0.4851 0.4290 0.4853 0.4543 0.4 0.35 0.43 0.3 0.3 rs3764652 COSM4131149 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4276 0.3541 0.4537 0.3824 0.3287 0.4712 0.4323 0.4390 0.4553 0.4187 0.3589 0.4317 0.3411 0.3170 0.4605 0.4548 0.4315 hom 3714.63 123 19 1052005 . C T 3714.63 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9850;MQ=59.47;MQ0=0;QD=30.20;VQSLOD=8.5234;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3714,286,0 19 1053524 1053524 C G exonic ABCA7 synonymous SNV ABCA7:NM_019112:exon24:c.C3417G:p.L1139L 0.18 0.19 0.082 0.19 0.17 0.25 0.2525 0.2455 0.1517 0.2797 0.2864 0.2456 0.2387 0.2776 0.16 0.18 0.16 0.13 0.066 rs3752241 COSM3756276 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1711 0.1953 0.0740 0.1771 0.1904 0.1689 0.1712 0.1573 0.2554 0.1778 0.1939 0.0859 0.1467 0.2042 0.1655 0.1738 0.1827 het 165.35 11 19 1053524 . C G 165.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.932;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.532;QD=15.03;ReadPosRankSum=-2.181;VQSLOD=10.4989;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:195,0,111 19 1054060 1054060 A G exonic ABCA7 synonymous SNV ABCA7:NM_019112:exon26:c.A3528G:p.L1176L 0.54 0.8 0.47 0.38 0.42 0.5 0.4723 0.7443 0.5084 0.3704 0.4765 0.4277 0.5033 0.5047 0.53 0.72 0.43 0.47 0.35 rs3752243 COSM5425357 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4674 0.7521 0.5030 0.3798 0.3672 0.4645 0.4309 0.4591 0.5075 0.5306 0.7517 0.4726 0.3344 0.3525 0.4564 0.4508 0.4477 hom 4819.36 144 19 1054060 . A G 4819.36 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6225;MQ=60.00;MQ0=0;QD=33.47;VQSLOD=9.3562;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4819,373,0 19 1055191 1055191 G A exonic ABCA7 nonsynonymous SNV ABCA7:NM_019112:exon30:c.G4046A:p.R1349Q 0.39 0.36 0.41 0.35 0.42 0.43 0.4433 0.4051 0.4785 0.3601 0.4889 0.4426 0.4916 0.4646 0.41 0.38 0.42 0.28 0.27 rs3745842 COSM3766263 1(liver) . . . . . . . . . . . 0.546 0.067 T 0.008 0.135 B 0.004 0.093 B . . . 1 0.090 P -1.5 0.005 N -3.46 0.945 D 0.05 0.064 N 0.024 0.007 -1.065 0.106 T 0.000 0.000 T . . . -0.160 0.079 1.325 0.880 0.171 0.042 0.095 N c -1.988 -1.991 0.308 0.192 0.646 0.450 0 -5.26 0.025 -2.704 0.009 -1.956 0.005 0.000 0.063 0.001 0.043 10.516 0.439 . . . 0.4279 0.3820 0.4550 0.3793 0.3356 0.4595 0.4299 0.4384 0.4555 0.4214 0.3832 0.4258 0.3311 0.3210 0.4503 0.4489 0.4286 hom 1217.83 35 19 1055191 . G A 1217.83 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9908;MQ=58.67;MQ0=0;QD=34.80;VQSLOD=8.5657;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:99:1251,105,0 19 1056065 1056065 A G exonic ABCA7 synonymous SNV ABCA7:NM_019112:exon32:c.A4239G:p.R1413R 0.44 0.54 0.43 0.36 0.42 0.43 0.4451 0.5410 0.4659 0.3479 0.4748 0.4303 0.5061 0.4721 0.46 0.53 0.42 0.37 0.23 rs881768 COSM3756281 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4402 0.5405 0.4659 0.3818 0.3409 0.4618 0.43 0.4473 0.4545 0.4666 0.5408 0.4342 0.3311 0.3247 0.4512 0.4493 0.4314 hom 1094.46 33 19 1056065 . A G 1094.46 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.59;MQ0=0;QD=33.17;VQSLOD=8.7941;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:90.28:1127,90,0 19 1056492 1056492 G C exonic ABCA7 nonsynonymous SNV ABCA7:NM_019112:exon33:c.G4580C:p.G1527A 0.83 0.99 0.87 0.65 0.81 0.77 0.8405 0.9605 0.9137 0.6552 0.8868 0.8307 0.8679 0.8299 0.87 0.96 0.83 0.81 0.69 rs3752246 COSM4131153 1(thyroid) . . . . . Alzheimer's disease (late onset) 0.87 . 21460841 rs3752246 6E-7 0.877 0.026 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.182 P -1.63 0.004 N -2.17 0.866 D 2.7 0.002 N 0.037 0.017 -0.989 0.330 T 0.000 0.000 T . . . -1.159 0.026 0.008 0.195 0.007 0.019 0.057 N c -1.669 -1.567 0.022 0.134 0.706 0.609 0 1.57 0.224 -0.147 0.101 -1.369 0.012 0.001 0.137 0.014 0.122 4.448 0.109 . ENSG00000099817.7|ENSG00000099817.7|ENSG00000064687.8|ENSG00000064687.8|ENSG00000064687.8|ENSG00000180448.6 Artery_Aorta|Artery_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.8402 0.9628 0.9049 0.8078 0.6465 0.8856 0.8301 0.8396 0.8324 0.8644 0.9585 0.8759 0.7914 0.6687 0.8826 0.8275 0.8605 hom 1763.48 50 19 1056492 . G C 1763.48 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.54;MQ0=0;QD=35.27;VQSLOD=8.4642;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1796,141,0 19 1061804 1061804 T C exonic ABCA7 synonymous SNV ABCA7:NM_019112:exon41:c.T5487C:p.N1829N 0.06 0.025 0.042 0.034 0.057 0.15 0.0585 0.0266 0.0497 0.0303 0.0770 0.0489 0.0594 0.1302 0.039 0.027 0.046 0.033 0.041 rs78320196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0585 0.0260 0.0483 0.0697 0.0303 0.0738 0.0472 0.0535 0.1289 0.0486 0.0276 0.0453 0.0397 0.0242 0.0721 0.0578 0.0577 het 516.03 54 19 1061804 . T C 516.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.593;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8288;MQ=58.02;MQ0=0;MQRankSum=2.826;QD=9.56;ReadPosRankSum=-1.364;VQSLOD=3.8425;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,22:54:99:546,0,798 19 1068734 1068734 T C exonic ARHGAP45 synonymous SNV ARHGAP45:NM_001258328:exon2:c.T460C:p.L154L,ARHGAP45:NM_001321232:exon2:c.T424C:p.L142L,ARHGAP45:NM_012292:exon2:c.T412C:p.L138L 0.4 0.53 0.39 0.36 0.34 0.36 0.3822 0.5283 0.4246 0.3474 0.3729 0.3579 0.4149 0.3827 0.4 0.51 0.35 0.36 0.33 rs3764653 COSM4131174 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3785 0.5288 0.4193 0.3154 0.3389 0.3616 0.3589 0.3756 0.3829 0.4067 0.5263 0.3900 0.2867 0.3215 0.3514 0.3664 0.3502 het 1139.54 100 19 1068734 . T C 1139.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.505;DP=100;Dels=0.00;FS=1.705;HRun=0;HaplotypeScore=0.9983;MQ=58.08;MQ0=0;MQRankSum=-0.160;QD=11.40;ReadPosRankSum=-0.933;VQSLOD=5.0334;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,43:100:99:1170,0,1552 19 1068738 1068738 G A exonic ARHGAP45 nonsynonymous SNV ARHGAP45:NM_001258328:exon2:c.G464A:p.R155H,ARHGAP45:NM_001321232:exon2:c.G428A:p.R143H,ARHGAP45:NM_012292:exon2:c.G416A:p.R139H 0.4 0.53 0.39 0.36 0.34 0.36 0.3823 0.5287 0.4249 0.3470 0.3726 0.3580 0.4153 0.3830 0.4 0.51 0.35 0.36 0.31 rs1801284 COSM3756288 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.268 0.180 T 0.008 0.135 B 0.002 0.063 B 0.854 0.071 N 1 0.090 P 0.75 0.191 N 2.0 0.460 T -0.39 0.136 N 0.019 0.032 -0.946 0.416 T 0.000 0.000 T . . . -1.403 0.019 0.003 0.917 0.204 0.056 0.113 N c -2.302 -2.421 1.000 0.747 0.646 0.450 0 -8.44 0.008 -1.387 0.026 -3.675 0.001 0.000 0.063 0.007 0.100 16.357 0.830 . ENSG00000099817.7|ENSG00000064687.8 Artery_Tibial|Whole_Blood 0.3784 0.5289 0.4194 0.3156 0.3387 0.3615 0.3587 0.3752 0.3828 0.4065 0.5265 0.3900 0.2867 0.3212 0.3509 0.3662 0.3488 het 1104.33 100 19 1068738 . G A 1104.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.018;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.08;MQ0=0;MQRankSum=0.236;QD=11.04;ReadPosRankSum=-1.405;VQSLOD=6.1670;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,44:100:99:1134,0,1512 19 1074000 1074000 A T exonic ARHGAP45 nonsynonymous SNV ARHGAP45:NM_001282335:exon5:c.A426T:p.E142D,ARHGAP45:NM_001258328:exon6:c.A825T:p.E275D,ARHGAP45:NM_001321232:exon6:c.A789T:p.E263D,ARHGAP45:NM_012292:exon6:c.A777T:p.E259D 0.78 0.95 0.84 0.65 0.73 0.69 0.7901 0.9183 0.8978 0.7078 0.7887 0.7725 0.8047 0.7515 0.8 0.91 0.75 0.79 0.5 rs2074442 . . . . . . . . . . . . . 0.663 0.046 T 0.0 0.112 B 0.0 0.080 B 0.733 0.064 N 1 0.090 P 0.65 0.162 N 2.03 0.215 T 0.89 0.016 N 0.025 0.058 -0.946 0.416 T 0.000 0.000 T . . . -1.880 0.010 0.002 0.559 0.053 0.092 0.148 N c -1.800 -1.808 1.000 0.428 0.722 0.854 0 -1.37 0.085 -0.405 0.072 -2.365 0.003 0.003 0.159 0.001 0.043 2.021 0.033 F-BAR domain|FCH domain ENSG00000099817.7|ENSG00000099817.7|ENSG00000180448.6|ENSG00000099817.7|ENSG00000099817.7|ENSG00000064687.8|ENSG00000180448.6|ENSG00000064687.8 Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.7695 0.9202 0.8755 0.7068 0.6587 0.7597 0.7513 0.7667 0.7347 0.7896 0.9093 0.8433 0.7285 0.6824 0.7649 0.7373 0.7587 het 224.14 23 19 1074000 . A T 224.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.643;DP=23;Dels=0.00;FS=4.216;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=0.217;QD=9.75;ReadPosRankSum=0.403;VQSLOD=5.7993;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,10:23:99:254,0,372 19 1080311 1080311 G C exonic ARHGAP45 synonymous SNV ARHGAP45:NM_001282334:exon4:c.G666C:p.P222P,ARHGAP45:NM_001282335:exon13:c.G1410C:p.P470P,ARHGAP45:NM_001258328:exon14:c.G1809C:p.P603P,ARHGAP45:NM_001321232:exon14:c.G1773C:p.P591P,ARHGAP45:NM_012292:exon14:c.G1761C:p.P587P 0.74 0.8 0.85 0.65 0.74 0.69 0.7693 0.7969 0.8859 0.6690 0.7676 0.7654 0.7924 0.7380 0.77 0.79 0.76 0.75 0.65 rs2074454 COSM4131175;COSM438504 1(kidney);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7720 0.7983 0.8729 0.7369 0.6618 0.7655 0.7678 0.7743 0.7414 0.7633 0.7989 0.8484 0.7417 0.6665 0.7672 0.7481 0.7577 het 1649.26 141 19 1080311 . G C 1649.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.794;DP=141;DS;Dels=0.00;FS=3.363;HRun=2;HaplotypeScore=3.8421;MQ=59.15;MQ0=0;MQRankSum=0.245;QD=11.70;ReadPosRankSum=1.557;VQSLOD=4.8656;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,71:141:99:1679,0,1938 19 1094004 1094004 G A exonic POLR2E nonsynonymous SNV POLR2E:NM_002695:exon2:c.C131T:p.S44F 1. 1. 1. 1. 1. 1. 0.9999 0.9996 0.9995 1 1 0.9999 1 1 1. 1. 1. 1. 1. rs12459404 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.220 P -3.33 0.000 N 1.25 0.365 T . . . 0.211 0.259 -0.975 0.361 T 0.000 0.000 T . . . 1.283 0.219 12.18 0.955 0.266 0.211 0.211 N c -1.081 -0.773 1.000 0.747 0.722 0.854 0 3.64 0.407 4.521 0.600 0.152 0.238 1.000 0.715 0.998 0.697 8.170 0.302 RNA polymerase\x2c Rpb5\x2c N-terminal . . 0.9999 0.9999 0.9995 1 1 1 0.9999 1 1.0000 0.9998 0.9999 0.9988 1 1 1 0.9999 0.9990 hom 1667.34 58 19 1094004 . G A 1667.34 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.434;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7332;MQ=60.00;MQ0=0;MQRankSum=-0.538;QD=28.75;ReadPosRankSum=-0.179;VQSLOD=6.0005;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,57:58:99:1700,119,0 19 1106615 1106615 T C exonic GPX4 unknown UNKNOWN 0.6 0.68 0.66 0.54 0.55 0.56 0.5960 0.7005 0.6570 0.5980 0.6572 0.5705 0.5835 0.5709 0.59 0.69 0.55 0.45 . rs713041 COSN8992545 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5785 0.6856 0.6358 0.5180 0.5679 0.6257 0.5532 0.5555 0.5495 0.6097 0.6790 0.6360 0.5728 0.5477 0.6135 0.5743 0.6112 hom 623.07 24 19 1106615 . T C 623.07 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.03;MQ0=0;QD=25.96;VQSLOD=6.9965;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:57.14:656,57,0 19 1110829 1110829 G A exonic SBNO2 synonymous SNV SBNO2:NM_001100122:exon23:c.C2772T:p.N924N,SBNO2:NM_014963:exon26:c.C2943T:p.N981N 0.56 0.66 0.64 0.44 0.51 0.54 0.5352 0.6679 0.6019 0.4804 0.6068 0.5064 0.5424 0.5256 0.56 0.67 0.5 0.46 . rs2302109 COSM3766268;COSM3766267 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5365 0.6647 0.5991 0.5001 0.4743 0.6011 0.5047 0.5159 0.5231 0.5703 0.6575 0.5921 0.5199 0.4614 0.5854 0.5273 0.5736 hom 3097.74 104 19 1110829 . G A 3097.74 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.012;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=57.98;MQ0=0;MQRankSum=0.201;QD=29.79;ReadPosRankSum=-1.195;VQSLOD=8.2276;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,102:104:99:3131,211,0 19 1113701 1113701 G A exonic SBNO2 nonsynonymous SNV SBNO2:NM_001100122:exon16:c.C1909T:p.P637S,SBNO2:NM_014963:exon19:c.C2080T:p.P694S 0.15 0.057 0.21 0.12 0.24 0.19 0.2547 0.1128 0.2598 0.1722 0.3903 0.2833 0.2478 0.2115 0.17 0.077 0.21 0.11 . rs2302110 COSM3756292;COSM3756291 1(large_intestine) . . . . . . . . . . . 0.423 0.105 T 0.001 0.067 B 0.002 0.093 B 0.272 0.151 N 1 0.090 P 0.835 0.211 L . . . -1.01 0.266 N 0.018 0.003 -1.032 0.197 T 0.000 0.000 T . . . 0.036 0.097 2.942 0.734 0.100 0.017 0.054 N c -0.994 -0.974 1.000 0.747 0.731 0.878 0 3.23 0.360 0.630 0.241 0.026 0.148 0.188 0.239 0.019 0.132 6.984 0.237 . ENSG00000099817.7 Adipose_Subcutaneous 0.2170 0.0877 0.2256 0.1961 0.1470 0.3056 0.2289 0.2462 0.1767 0.1860 0.0808 0.2064 0.1887 0.1112 0.2857 0.2283 0.2286 het 185.26 11 19 1113701 . G A 185.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.228;DP=11;Dels=0.00;FS=3.090;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.034;QD=16.84;ReadPosRankSum=0.896;VQSLOD=5.1232;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,7:11:99:215,0,116 19 1119019 1119019 C T exonic SBNO2 synonymous SNV SBNO2:NM_001100122:exon11:c.G1347A:p.A449A,SBNO2:NM_014963:exon14:c.G1518A:p.A506A 0.49 0.68 0.61 0.24 0.46 0.43 0.5329 0.7086 0.6552 0.3500 0.6326 0.5241 0.5363 0.4308 0.54 0.68 0.46 0.32 . rs2074920 COSM3756295;COSM3756296 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4812 0.6793 0.5872 0.4550 0.2621 0.5739 0.4707 0.4787 0.3889 0.5372 0.6696 0.5718 0.4636 0.2277 0.5508 0.4912 0.5184 hom 350.42 11 19 1119019 . C T 350.42 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.86;VQSLOD=14.2872;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:383,30,0 19 1127615 1127615 G C exonic SBNO2 synonymous SNV SBNO2:NM_001100122:exon2:c.C258G:p.S86S,SBNO2:NM_014963:exon5:c.C429G:p.S143S 0.18 0.014 0.3 0.19 0.2 0.27 0.2238 0.0399 0.3449 0.2179 0.2549 0.2191 0.2273 0.2559 0.16 0.046 0.21 0.087 . rs2074915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2307 0.0359 0.3352 0.2199 0.2169 0.2494 0.2192 0.2129 0.2557 0.1779 0.0392 0.3138 0.1987 0.2404 0.2493 0.2221 0.2551 het 388.39 40 19 1127615 . G C 388.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.845;DP=40;Dels=0.00;FS=16.245;HRun=0;HaplotypeScore=2.8271;MQ=58.32;MQ0=0;MQRankSum=0.739;QD=9.71;ReadPosRankSum=0.000;VQSLOD=2.3439;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,17:40:99:418,0,661 19 1127720 1127720 G A exonic SBNO2 synonymous SNV SBNO2:NM_001100122:exon2:c.C153T:p.S51S,SBNO2:NM_014963:exon5:c.C324T:p.S108S 0.17 0.014 0.3 0.19 0.2 0.27 0.2233 0.0398 0.3428 0.2170 0.2527 0.2190 0.2276 0.2556 0.16 0.046 0.21 0.087 . rs2074916 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2304 0.0355 0.3339 0.2197 0.2167 0.2502 0.2192 0.2121 0.2550 0.1772 0.0380 0.3122 0.1987 0.2357 0.2496 0.2221 0.2551 het 585.07 51 19 1127720 . G A 585.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.689;DP=51;Dels=0.00;FS=4.020;HRun=1;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=0.104;QD=11.47;ReadPosRankSum=-0.443;VQSLOD=6.4738;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,24:51:99:615,0,875 19 1231142 1231142 T C exonic CBARP nonsynonymous SNV CBARP:NM_152769:exon9:c.A1112G:p.H371R 0.65 0.59 0.54 0.99 0.49 0.63 0.5551 0.5959 0.4590 0.9851 0.5146 0.4952 0.5280 0.6210 0.52 0.59 0.49 0.45 0.16 rs8110590 COSM3756319;COSM3756318 1(kidney);2(thyroid);4(large_intestine) . . . . . . . . . . . 0.563 0.063 T 0.0 0.026 B 0.001 0.040 B 0.057 0.225 N 1 0.090 P 0 0.065 N . . . 0.81 0.018 N 0.023 0.009 -0.986 0.336 T 0.000 0.000 T . . . -1.356 0.020 0.004 0.648 0.074 0.053 0.110 N c -1.558 -1.515 0.999 0.393 0.660 0.495 0 -0.095 0.129 -0.007 0.126 -2.685 0.002 0.000 0.063 0.285 0.234 8.464 0.319 . . . 0.5481 0.5906 0.4707 0.4745 0.9869 0.5135 0.4902 0.5150 0.6097 0.5324 0.5895 0.4737 0.4833 0.9877 0.5069 0.4634 0.4752 het 468.32 48 19 1231142 . T C 468.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.303;DP=48;Dels=0.00;FS=5.093;HRun=0;HaplotypeScore=1.5767;MQ=59.52;MQ0=0;MQRankSum=-0.076;QD=9.76;ReadPosRankSum=1.061;VQSLOD=4.9641;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,27:48:99:498,0,392 19 1233597 1233597 G A exonic CBARP synonymous SNV CBARP:NM_152769:exon8:c.C807T:p.P269P 0.11 0.02 0.14 0.14 0.16 0.11 0.1513 0.0529 0.1387 0.1651 0.2175 0.1674 0.1110 0.1202 0.11 0.051 0.14 0.054 0.074 rs3746102 COSM4131213;COSM4131212 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1340 0.0421 0.1142 0.1307 0.1499 0.1583 0.1531 0.1284 0.1088 0.1174 0.0385 0.1079 0.1233 0.1383 0.1495 0.1517 0.1544 het 77.05 11 19 1233597 . G A 77.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.25;MQ0=0;MQRankSum=2.450;QD=7.00;ReadPosRankSum=-0.336;VQSLOD=3.8783;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:107,0,133 19 1256998 1256998 C T exonic MIDN synonymous SNV MIDN:NM_177401:exon8:c.C1134T:p.D378D 0.3 0.083 0.34 0.49 0.35 0.33 0.3374 0.1262 0.3200 0.5072 0.3041 0.3468 0.2940 0.3547 0.27 0.12 0.34 0.24 0.2 rs9823 COSM438607 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3352 0.1149 0.3278 0.3162 0.5051 0.2894 0.3446 0.3334 0.3556 0.2818 0.1209 0.3385 0.3146 0.5222 0.2945 0.3402 0.3245 het 661.58 55 19 1256998 . C T 661.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.433;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-0.985;QD=12.03;ReadPosRankSum=0.227;VQSLOD=6.6661;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,27:55:99:692,0,773 19 1272040 1272040 T C exonic CIRBP synonymous SNV CIRBP:NM_001280:exon6:c.T492C:p.Y164Y,CIRBP:NM_001300815:exon6:c.T492C:p.Y164Y,CIRBP:NM_001300829:exon6:c.T492C:p.Y164Y 0.8 0.68 0.82 0.97 0.8 0.78 0.7969 0.6867 0.8421 0.9795 0.8099 0.7817 0.8084 0.7942 0.74 0.69 0.77 0.72 0.85 rs12488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8003 0.6887 0.8400 0.8153 0.9807 0.8134 0.7732 0.7975 0.7957 0.7632 0.6868 0.8048 0.7980 0.9858 0.8249 0.7650 0.7796 het 1259.70 122 19 1272040 . T C 1259.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.985;DP=122;Dels=0.00;FS=8.742;HRun=0;HaplotypeScore=6.2263;MQ=59.69;MQ0=0;MQRankSum=1.533;QD=10.33;ReadPosRankSum=2.782;VQSLOD=3.1073;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,56:122:99:1290,0,1624 19 1357082 1357082 T C exonic MUM1 synonymous SNV MUM1:NM_032853:exon3:c.T135C:p.S45S 0.71 0.74 0.76 0.56 0.77 0.74 0.7492 0.7427 0.7520 0.5372 0.6557 0.7868 0.7141 0.7495 0.78 0.75 0.8 0.65 0.65 rs713042 COSM4000524 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7489 0.7395 0.7514 0.8292 0.5353 0.6595 0.7930 0.7525 0.7486 0.7492 0.7513 0.7560 0.8377 0.5341 0.6536 0.7915 0.7444 het 852.43 62 19 1357082 . T C 852.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.577;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.672;QD=13.75;ReadPosRankSum=0.975;VQSLOD=11.9502;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,38:62:99:882,0,601 19 1360575 1360575 G A exonic MUM1 nonsynonymous SNV MUM1:NM_032853:exon5:c.G658A:p.G220R 0.67 0.68 0.73 0.51 0.72 0.73 0.7086 0.6818 0.7333 0.4876 0.5999 0.7408 0.6858 0.7382 0.73 0.69 0.76 0.63 0.75 rs3826942 COSM5021975 1(bone) . . . . . . . . . . . 0.384 0.110 T 0.0 0.026 B 0.0 0.013 B 0.253 0.154 N 1 0.090 P -2.535 0.001 N 1.78 0.257 T 2.44 0.003 N 0.032 0.021 -1.004 0.289 T 0.000 0.000 T . . . -1.414 0.019 0.003 0.127 0.002 0.005 0.023 N c -1.681 -1.620 1.000 0.517 0.722 0.854 0 -0.31 0.121 0.608 0.237 -0.666 0.040 0.014 0.188 0.000 0.016 0.816 0.010 . ENSG00000160953.10|ENSG00000267755.1|ENSG00000160953.10|ENSG00000160953.10|ENSG00000160953.10|ENSG00000160953.10|ENSG00000160953.10|ENSG00000267755.1|ENSG00000160953.10|ENSG00000160953.10|ENSG00000160953.10|ENSG00000267755.1|ENSG00000160953.10|ENSG00000267755.1|ENSG00000160953.10|ENSG00000160953.10|ENSG00000267755.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Thyroid|Thyroid 0.7093 0.6774 0.7299 0.7818 0.4884 0.6070 0.7478 0.7128 0.7370 0.6944 0.6922 0.7339 0.7715 0.4951 0.5954 0.7365 0.6961 het 1322.45 82 19 1360575 . G A 1322.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.379;DP=82;Dels=0.00;FS=0.911;HRun=1;HaplotypeScore=0.8667;MQ=59.26;MQ0=0;MQRankSum=0.654;QD=16.13;ReadPosRankSum=-0.758;VQSLOD=6.0823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,48:82:99:1352,0,906 19 1388538 1388538 C T exonic NDUFS7 nonsynonymous SNV NDUFS7:NM_024407:exon3:c.C68T:p.P23L 0.46 0.36 0.48 0.33 0.6 0.56 0.5502 0.3874 0.5063 0.3044 0.5299 0.6089 0.5655 0.5803 0.54 0.38 0.62 0.35 0.53 rs1142530 COSM4131259 1(thyroid) Likely benign|Likely benign|Likely benign not_specified|Leigh_syndrome|Mitochondrial_complex_I_deficiency RCV000117716.2|RCV000342300.1|RCV000407392.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM CN169374|C0023264:256000:ORPHA506:29570005|C1838979:252010 . . . . . . 0.4 0.137 T 0.001 0.144 B 0.001 0.040 B 0.640 0.106 U 1 0.090 P 0.69 0.170 N 0.07 0.638 T 0.96 0.024 N 0.111 0.156 -0.919 0.458 T 0.000 0.000 T . . . 0.152 0.108 4.166 0.662 0.078 0.213 0.211 N c -1.113 -1.112 0.047 0.147 0.707 0.730 0 0.837 0.180 -0.979 0.039 0.841 0.343 0.000 0.063 0.000 0.016 4.567 0.115 . ENSG00000160953.10|ENSG00000267755.1|ENSG00000160953.10|ENSG00000160953.10|ENSG00000160953.10|ENSG00000160953.10|ENSG00000160953.10|ENSG00000160953.10|ENSG00000267755.1|ENSG00000160953.10 Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Lung|Nerve_Tibial 0.5471 0.3700 0.4984 0.6036 0.3011 0.5278 0.6142 0.5579 0.5779 0.5087 0.3775 0.5155 0.5695 0.2861 0.5075 0.6047 0.5541 het 476.70 33 19 1388538 . C T 476.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.402;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8109;MQ=58.15;MQ0=0;MQRankSum=-0.674;QD=14.45;ReadPosRankSum=0.565;VQSLOD=5.1927;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,19:33:99:507,0,359 19 1619339 1619339 T C exonic TCF3 synonymous SNV TCF3:NM_001136139:exon14:c.A1302G:p.S434S,TCF3:NM_003200:exon15:c.A1302G:p.S434S 0.62 0.77 0.52 0.88 0.37 0.49 0.4963 0.7312 0.5309 0.8709 0.4652 0.4114 0.4778 0.4722 0.49 0.69 0.39 0.61 0.26 rs8140 COSM3749472;COSM3749473 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4750 0.7283 0.5106 0.4121 0.8712 0.4263 0.3852 0.4433 0.4486 0.5347 0.7222 0.5300 0.4533 0.8829 0.4464 0.4131 0.4897 het 218.56 17 19 1619339 . T C 218.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DP=17;Dels=0.00;FS=2.115;HRun=0;HaplotypeScore=1.9963;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=12.86;ReadPosRankSum=-1.059;VQSLOD=5.6173;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,9:17:99:249,0,209 19 1789556 1789556 C T exonic ATP8B3 synonymous SNV ATP8B3:NM_001178002:exon23:c.G2538A:p.Q846Q,ATP8B3:NM_138813:exon23:c.G2649A:p.Q883Q 0.31 0.3 0.29 0.44 0.25 0.27 0.3169 0.3501 0.3648 0.4851 0.3005 0.2909 0.2664 0.2860 0.25 0.28 0.24 . . rs12978609 COSM3749490;COSM3749489 4(thyroid);9(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2875 0.3106 0.3262 0.2449 0.4494 0.2482 0.2620 0.2659 0.2613 0.2817 0.3001 0.3317 0.2367 0.4309 0.2411 0.2647 0.2453 hom 488.19 15 19 1789556 . C T 488.19 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;QD=32.55;VQSLOD=9.1779;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:521,42,0 19 1811547 1811547 A G exonic ATP8B3 synonymous SNV ATP8B3:NM_001178002:exon2:c.T30C:p.P10P,ATP8B3:NM_138813:exon2:c.T189C:p.P63P 0.83 0.9 0.85 0.78 0.83 0.77 0.8245 0.8965 0.8166 0.7887 0.8093 0.8336 0.8185 0.7773 0.86 0.9 0.84 0.83 . rs12609187 COSM4131450;COSM4131451 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8229 0.8960 0.8218 0.8067 0.7845 0.8125 0.8342 0.8308 0.7803 0.8467 0.8913 0.8425 0.8013 0.7775 0.8250 0.8352 0.8347 het 462.37 40 19 1811547 . A G 462.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.759;DP=40;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9967;MQ=59.53;MQ0=0;MQRankSum=0.530;QD=11.56;ReadPosRankSum=-1.291;VQSLOD=5.8805;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,18:40:99:492,0,619 19 1811603 1811603 C T exonic ATP8B3 nonsynonymous SNV ATP8B3:NM_138813:exon2:c.G133A:p.G45R 0.4 0.51 0.45 0.37 0.31 0.32 0.3454 0.4759 0.4268 0.4166 0.3867 0.3058 0.3432 0.3166 0.35 0.46 0.3 0.36 . rs7250872 COSM3756486 1(thyroid);1(large_intestine) . . . . . Bipolar disorder 1.21 . 19416921 rs7250872 2E-6 0.0 0.912 D 0.013 0.154 B 0.003 0.080 B . . . 1 0.205 P 1.445 0.365 L -0.84 0.743 T -0.94 0.251 N 0.032 0.132 -0.954 0.403 T 0.000 0.000 T . . . 2.005 0.302 16.24 0.992 0.538 0.002 0.012 N c -1.221 -1.252 1.000 0.747 0.652 0.477 0 1.37 0.211 -0.065 0.115 -0.472 0.054 0.000 0.063 0.000 0.016 5.166 0.143 . ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12|ENSG00000130270.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial 0.3466 0.4826 0.4232 0.2874 0.4169 0.3835 0.3008 0.3376 0.3166 0.3722 0.4670 0.4115 0.2867 0.4343 0.3754 0.3099 0.3576 het 680.79 46 19 1811603 . C T 680.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.139;DP=46;Dels=0.00;FS=1.192;HRun=0;HaplotypeScore=1.9907;MQ=60.00;MQ0=0;MQRankSum=-1.286;QD=14.80;ReadPosRankSum=-0.985;VQSLOD=5.8556;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,27:46:99:711,0,492 19 1912934 1912934 T C exonic ADAT3 synonymous SNV ADAT3:NM_001329533:exon2:c.T840C:p.T280T,ADAT3:NM_138422:exon2:c.T888C:p.T296T 0.36 0.48 0.42 0.4 0.2 0.29 0.2555 0.4452 0.3927 0.4393 0.2750 0.1710 0.2554 0.2739 0.25 0.43 0.15 0.38 0.21 rs12984675 COSM3756516 2(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2575 0.4453 0.3942 0.2113 0.4289 0.2607 0.1586 0.2462 0.2735 0.2696 0.4341 0.3501 0.2384 0.4250 0.2623 0.1562 0.2536 het 1008.23 75 19 1912934 . T C 1008.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.696;DP=75;Dels=0.00;FS=5.269;HRun=1;HaplotypeScore=5.4438;MQ=59.75;MQ0=0;MQRankSum=0.643;QD=13.44;ReadPosRankSum=-0.494;VQSLOD=4.5425;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,35:75:99:1038,0,1055 19 1912986 1912986 C T exonic ADAT3 synonymous SNV ADAT3:NM_001329533:exon2:c.C892T:p.L298L,ADAT3:NM_138422:exon2:c.C940T:p.L314L 0.24 0.32 0.26 0.23 0.14 0.22 0.1720 0.3136 0.2342 0.2490 0.2170 0.1158 0.175 0.2059 0.17 0.31 0.11 0.25 0.09 rs76159002 COSM1318350 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1724 0.3121 0.2419 0.0882 0.2476 0.2084 0.1109 0.1585 0.2059 0.1883 0.2994 0.2196 0.1060 0.2392 0.2030 0.1140 0.2004 het 1249.22 84 19 1912986 . C T 1249.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.148;DP=84;Dels=0.00;FS=4.329;HRun=1;HaplotypeScore=1.8255;MQ=60.00;MQ0=0;MQRankSum=-1.335;QD=14.87;ReadPosRankSum=1.784;VQSLOD=4.8374;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,46:84:99:1279,0,960 19 1979386 1979386 C T exonic CSNK1G2 synonymous SNV CSNK1G2:NM_001319:exon8:c.C837T:p.L279L 0.18 0.42 0.06 0.084 0.087 0.13 0.1609 0.4259 0.1371 0.1196 0.1073 0.1308 0.1554 0.1482 0.18 0.36 0.083 0.15 0.033 rs11550450 COSM4131510 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1088 0.3839 0.0776 0.1448 0.0908 0.0659 0.0881 0.0886 0.1261 0.1689 0.3794 0.0805 0.1318 0.0856 0.0641 0.0923 0.0821 het 227.97 17 19 1979386 . C T 227.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.293;DP=17;Dels=0.00;FS=3.140;HRun=1;HaplotypeScore=0.8667;MQ=56.24;MQ0=0;MQRankSum=-0.342;QD=13.41;ReadPosRankSum=-0.537;VQSLOD=2.7134;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,10:17:99:258,0,228 19 1997363 1997363 A G exonic BTBD2 synonymous SNV BTBD2:NM_017797:exon2:c.T507C:p.A169A 0.45 0.61 0.41 0.49 0.33 0.37 0.3770 0.5608 0.4694 0.4594 0.2384 0.3355 0.3940 0.3756 0.4 0.56 0.32 0.41 0.29 rs1610045 COSM3756528 1(breast);1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3721 0.5645 0.4582 0.4013 0.4632 0.2500 0.3275 0.3581 0.3749 0.3950 0.5589 0.4701 0.3867 0.5012 0.2504 0.3222 0.3306 het 1629.77 156 19 1997363 . A G 1629.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.256;DP=156;Dels=0.00;FS=2.145;HRun=1;HaplotypeScore=6.6832;MQ=59.51;MQ0=1;MQRankSum=-1.235;QD=10.45;ReadPosRankSum=0.948;VQSLOD=4.0599;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,70:156:99:1660,0,2290 19 2078221 2078221 G C exonic MOB3A synonymous SNV MOB3A:NM_130807:exon3:c.C339G:p.L113L 0.15 0.19 0.11 0.08 0.14 0.23 0.1480 0.1916 0.1793 0.0910 0.0960 0.1338 0.1358 0.2080 0.16 0.19 0.15 0.12 0.2 rs11541046 COSM3756531 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1447 0.1869 0.1752 0.1392 0.0866 0.0899 0.1353 0.1311 0.2002 0.1479 0.1832 0.1790 0.1424 0.0809 0.0947 0.1463 0.1324 het 694.91 60 19 2078221 . G C 694.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.917;DP=60;Dels=0.00;FS=5.267;HRun=0;HaplotypeScore=2.9647;MQ=59.38;MQ0=0;MQRankSum=0.246;QD=11.58;ReadPosRankSum=1.529;VQSLOD=5.0224;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,26:60:99:725,0,926 19 2078409 2078409 A G exonic MOB3A synonymous SNV MOB3A:NM_130807:exon3:c.T151C:p.L51L 0.41 0.67 0.26 0.2 0.36 0.42 0.3496 0.6313 0.2810 0.2044 0.25 0.3376 0.3507 0.3842 0.44 0.64 0.35 0.46 0.43 rs2074893 COSM3756532 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3395 0.6315 0.2892 0.3938 0.2033 0.2491 0.3376 0.3394 0.3805 0.3978 0.6189 0.2919 0.4305 0.2106 0.2564 0.3309 0.3480 hom 2080.72 70 19 2078409 . A G 2080.72 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6613;MQ=59.64;MQ0=0;QD=29.72;VQSLOD=8.3315;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2114,171,0 19 2078488 2078488 T C exonic MOB3A synonymous SNV MOB3A:NM_130807:exon3:c.A72G:p.P24P 0.39 0.65 0.25 0.18 0.33 0.43 0.3465 0.6283 0.2762 0.1935 0.2397 0.3334 0.3374 0.3965 0.44 0.63 0.34 0.42 0.43 rs2074894 COSM1564603 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3341 0.6280 0.2831 0.3913 0.1944 0.2376 0.3320 0.3309 0.3814 0.3913 0.6132 0.2840 0.4272 0.2054 0.2448 0.3255 0.3330 hom 3172.94 102 19 2078488 . T C 3172.94 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=31.11;VQSLOD=9.4326;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3206,262,0 19 2098063 2098063 A T exonic IZUMO4 nonsynonymous SNV IZUMO4:NM_001031735:exon5:c.A410T:p.Y137F,IZUMO4:NM_001039846:exon5:c.A410T:p.Y137F 0.011 0.0023 0.019 . 0.03 0.0082 0.0167 0.0059 0.0087 0 0.0107 0.0258 0.0122 0.0041 0.021 0.0048 0.029 0.011 0.025 rs45506200 . . . . . . . . . . . . . 0.0 0.912 D 0.994 0.647 D 0.824 0.575 P 0.003 0.357 N 0.894 0.278 N 0.895 0.225 L 1.93 0.229 T -3.29 0.657 D 0.283 0.342 -1.136 0.015 T 0.023 0.100 T . . . 5.242 0.708 25.6 0.971 0.318 0.621 0.314 D c 0.229 0.195 1.000 0.500 0.660 0.490 0 2.67 0.306 1.308 0.329 1.199 0.960 0.226 0.244 0.998 0.697 4.932 0.132 . . . 0.0180 0.0050 0.0121 0.0380 0 0.0147 0.0270 0.0195 0.0040 0.0160 0.0037 0.0119 0.0331 0 0.0140 0.0245 0.0276 het 4482.70 250 19 2098063 . A T 4482.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.052;DP=250;DS;Dels=0.00;FS=0.464;HRun=1;HaplotypeScore=2.5769;MQ=59.34;MQ0=0;MQRankSum=0.360;QD=17.93;ReadPosRankSum=-0.369;VQSLOD=5.3062;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:116,134:250:99:3780,0,3108 19 2109157 2109157 T C exonic AP3D1 nonsynonymous SNV AP3D1:NM_003938:exon28:c.A3214G:p.I1072V,AP3D1:NM_001261826:exon30:c.A3400G:p.I1134V 0.078 0.078 0.068 . 0.12 0.13 0.1275 0.0917 0.0564 0.0001 0.1574 0.1562 0.1384 0.1372 0.14 0.094 0.16 0.087 0.11 rs25673 . . . . . . . . . . . . . 0.765 0.034 T 0.0 0.112 B 0.001 0.063 B 0.004 0.341 N 0.999 0.212 P 1.185 0.302 L 0.87 0.464 T -0.02 0.073 N 0.019 0.012 -1.030 0.203 T 0.000 0.001 T . . . -2.892 0.001 0.001 0.172 0.005 0.058 0.115 N c -1.803 -1.894 0.006 0.110 0.707 0.730 0 -5.88 0.021 -0.822 0.045 -0.907 0.026 0.000 0.063 0.970 0.461 7.611 0.271 . ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000099840.9|ENSG00000065000.11|ENSG00000267122.1|ENSG00000065000.11|ENSG00000104885.13|ENSG00000065000.11|ENSG00000065000.11 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.1241 0.0908 0.0600 0.1730 0.0002 0.1577 0.1535 0.1254 0.1310 0.1278 0.0969 0.0800 0.1689 0 0.1660 0.1521 0.1367 het 1905.57 116 19 2109157 . T C 1905.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.997;DP=116;Dels=0.00;FS=7.699;HRun=0;HaplotypeScore=5.5428;MQ=59.08;MQ0=0;MQRankSum=0.461;QD=16.43;ReadPosRankSum=0.032;VQSLOD=4.5400;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,70:116:99:1936,0,1093 19 2110746 2110746 G A exonic AP3D1 synonymous SNV AP3D1:NM_003938:exon25:c.C2949T:p.S983S,AP3D1:NM_001261826:exon27:c.C3135T:p.S1045S 0.33 0.49 0.21 0.33 0.2 0.31 0.3110 0.5145 0.2353 0.4318 0.3432 0.2634 0.3136 0.3425 0.3 0.45 0.22 0.36 0.12 rs20567 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2633 0.4764 0.1989 0.2453 0.3989 0.2697 0.2211 0.2379 0.3101 0.3069 0.4815 0.2165 0.2483 0.3849 0.2642 0.2161 0.2664 het 289.80 32 19 2110746 . G A 289.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.394;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.28;MQ0=0;MQRankSum=0.720;QD=9.06;ReadPosRankSum=1.499;VQSLOD=6.3888;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:320,0,497 19 2116649 2116649 A G exonic AP3D1 synonymous SNV AP3D1:NM_001261826:exon17:c.T1956C:p.R652R,AP3D1:NM_003938:exon17:c.T1956C:p.R652R 0.16 0.13 0.13 0.19 0.17 0.19 0.2282 0.1697 0.1382 0.2642 0.3280 0.2400 0.2234 0.2289 0.17 0.13 0.19 0.17 0.066 rs2074960 COSM5505424;COSM5505426;COSM5505425 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1926 0.1418 0.1262 0.2046 0.2262 0.2599 0.1980 0.1841 0.2044 0.1905 0.1487 0.1591 0.2086 0.2188 0.2532 0.1974 0.2084 het 223.84 24 19 2116649 . A G 223.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.796;DP=24;Dels=0.00;FS=1.810;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.869;QD=9.33;ReadPosRankSum=0.579;VQSLOD=5.4311;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,11:24:99:254,0,346 19 2118692 2118692 C T exonic AP3D1 nonsynonymous SNV AP3D1:NM_001261826:exon15:c.G1621A:p.G541R,AP3D1:NM_003938:exon15:c.G1621A:p.G541R 0.076 0.073 0.065 . 0.11 0.13 0.1267 0.0859 0.0544 0.0001 0.1623 0.1558 0.1422 0.1363 0.13 0.086 0.16 0.087 0.11 rs34569645 . . . . . . . . . . . . . 0.279 0.217 T 0.549 0.383 P 0.186 0.344 B 0.804 0.093 N 1 0.090 P 0.86 0.214 L 1.74 0.263 T -1.47 0.387 N 0.084 0.078 -1.041 0.171 T 0.000 0.001 T . . . 0.696 0.160 8.803 0.788 0.120 0.191 0.203 N c -0.730 -0.830 0.000 0.064 0.707 0.730 0 2.61 0.301 2.459 0.444 -0.474 0.054 0.012 0.185 0.019 0.132 12.673 0.561 Armadillo-like helical|Armadillo-type fold|Clathrin/coatomer adaptor\x2c adaptin-like\x2c N-terminal ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000065000.11|ENSG00000099840.9|ENSG00000065000.11|ENSG00000267122.1|ENSG00000065000.11|ENSG00000104885.13|ENSG00000065000.11|ENSG00000065000.11 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.1247 0.0832 0.0599 0.1784 0.0002 0.1585 0.1547 0.1259 0.1356 0.1251 0.0889 0.0800 0.1689 0 0.1663 0.1511 0.1370 het 786.97 67 19 2118692 . C T 786.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.512;DP=67;Dels=0.00;FS=2.185;HRun=0;HaplotypeScore=1.6553;MQ=57.75;MQ0=0;MQRankSum=1.696;QD=11.75;ReadPosRankSum=0.158;VQSLOD=4.6996;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,30:67:99:817,0,972 19 2138654 2138654 T G exonic AP3D1 synonymous SNV AP3D1:NM_001261826:exon2:c.A156C:p.I52I,AP3D1:NM_003938:exon2:c.A156C:p.I52I 0.24 0.11 0.29 0.2 0.45 0.19 0.3408 0.1516 0.2845 0.2057 0.3825 0.4222 0.3452 0.2174 0.34 0.16 0.43 0.29 0.47 rs25672 COSM4131540;COSM4131538;COSM4131539 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3399 0.1472 0.2812 0.4087 0.2050 0.3771 0.4237 0.3812 0.2156 0.3289 0.1517 0.2739 0.4106 0.1819 0.3889 0.4331 0.3645 het 2467.31 234 19 2138654 . T G 2467.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.639;DP=234;Dels=0.00;FS=1.023;HRun=0;HaplotypeScore=4.8773;MQ=59.10;MQ0=0;MQRankSum=1.827;QD=10.54;ReadPosRankSum=0.574;VQSLOD=5.4129;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,102:234:99:2497,0,3473 19 2226676 2226676 G A exonic DOT1L nonsynonymous SNV DOT1L:NM_032482:exon27:c.G4156A:p.G1386S 0.23 0.036 0.31 0.18 0.47 0.22 0.3989 0.1139 0.3572 0.2229 0.4198 0.4828 0.4326 0.2984 0.32 0.094 0.43 0.17 0.21 rs3815308 COSM3749492;COSM3749491 1(thyroid);14(large_intestine) . . . . . . . . . . . 1.0 0.024 T 0.105 0.244 B 0.003 0.127 B 0.752 0.097 N 1 0.090 P 0.97 0.241 L 2.06 0.284 T -0.39 0.136 N 0.028 0.009 -0.920 0.456 T 0.000 0.000 T . . . -0.196 0.076 1.121 0.706 0.090 0.241 0.221 N c -1.181 -1.186 0.359 0.198 0.672 0.522 0 0.43 0.157 0.831 0.269 -0.377 0.066 0.984 0.356 0.001 0.043 10.644 0.446 . ENSG00000065000.11 Esophagus_Mucosa 0.3503 0.0822 0.2993 0.4253 0.1817 0.3447 0.4521 0.4114 0.2545 0.3153 0.0887 0.2847 0.4371 0.1572 0.3526 0.4493 0.4010 het 322.71 17 19 2226676 . G A 322.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.261;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=-0.854;QD=18.98;ReadPosRankSum=1.156;VQSLOD=5.9210;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,11:17:99:353,0,115 19 2249477 2249477 G T exonic AMH nonsynonymous SNV AMH:NM_000479:exon1:c.G146T:p.S49I 0.68 0.52 0.7 0.59 0.82 0.81 0.7876 0.6074 0.6772 0.6450 0.8244 0.8451 0.8011 0.7899 0.74 0.56 0.83 0.67 0.76 rs10407022 COSM4131575 1(thyroid) . . . . . . . . . . . 0.041 0.419 D 0.838 0.444 P 0.367 0.416 B 0.383 0.134 U 1 0.090 P 0.895 0.225 L -1.76 0.836 D -2.1 0.478 N 0.068 0.109 -0.951 0.409 T 0.000 0.000 T . . . 1.771 0.274 14.82 0.977 0.347 0.421 0.266 N c -0.489 -0.620 0.999 0.377 0.635 0.413 0 2.69 0.308 1.467 0.347 0.029 0.149 0.005 0.169 0.001 0.043 10.918 0.462 . ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000267021.1|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4|ENSG00000104899.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Thyroid|Vagina|Whole_Blood 0.7670 0.5646 0.6536 0.8608 0.6087 0.7980 0.8343 0.8116 0.7777 0.7414 0.5771 0.6575 0.8344 0.6068 0.8126 0.8349 0.7869 het 267 13 19 2249477 . G T 267 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.254;DP=13;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=-0.254;QD=20.54;ReadPosRankSum=0.761;VQSLOD=3.2392;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,10:13:42.16:297,0,42 19 2251817 2251817 T C exonic AMH nonsynonymous SNV AMH:NM_000479:exon5:c.T1544C:p.V515A 0.99 1. 0.99 1. 0.99 0.97 0.9799 0.9965 0.9949 1 0.9923 0.9749 0.9862 0.9643 0.98 1. 0.97 0.087 0.81 rs10417628 COSM3756562 1(thyroid);5(large_intestine) . . . . . . . . . . . 0.434 0.094 T 0.015 0.158 B 0.001 0.040 B 0.889 0.087 N 1 0.090 P -0.515 0.026 N -0.39 0.692 T 2.07 0.004 N 0.004 0.012 -0.993 0.317 T 0.000 0.000 T . . . 0.795 0.170 9.433 0.731 0.099 0.046 0.101 N c -1.069 -0.912 0.968 0.290 0.765 0.991 0 1.04 0.191 0.743 0.257 -0.062 0.121 0.282 0.249 0.930 0.404 6.491 0.212 Cystine-knot cytokine|Transforming growth factor-beta\x2c C-terminal . . 0.9810 0.9968 0.9936 0.9697 0.9999 0.9932 0.9755 0.9839 0.9635 0.9871 0.9962 0.9904 0.9834 1 0.9943 0.9784 0.9908 hom 941.56 34 19 2251817 . T C 941.56 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.69;VQSLOD=12.9218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:81.20:975,81,0 19 2252990 2252990 C G exonic JSRP1 nonsynonymous SNV JSRP1:NM_144616:exon6:c.G449C:p.G150A 0.18 0.0091 0.19 0.32 0.24 0.19 0.2450 0.0441 0.2461 0.3896 0.2673 0.2518 0.2830 0.2445 0.15 0.042 0.2 0.13 0.13 rs80043033 . . . . . . . . . . . . . 0.316 0.137 T 0.543 0.361 P 0.248 0.372 B 0.366 0.136 N 1 0.090 P 1.04 0.263 L 0.29 0.589 T -1.65 0.395 N 0.061 0.045 -1.002 0.294 T 0.000 0.000 T . . . 2.663 0.381 20.6 0.980 0.371 0.142 0.181 N c -0.587 -0.660 1.000 0.747 0.598 0.340 0 2.73 0.311 1.014 0.293 0.785 0.317 0.001 0.137 0.015 0.124 8.765 0.337 . . . 0.2039 0.0307 0.1830 0.2396 0.3428 0.2127 0.2020 0.2168 0.2166 0.1730 0.0350 0.1635 0.2167 0.3457 0.2335 0.2175 0.2193 het 104.53 11 19 2252990 . C G 104.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DP=11;Dels=0.00;FS=2.463;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.143;QD=9.50;ReadPosRankSum=-0.387;VQSLOD=5.5845;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:135,0,154 19 2340154 2340154 - C exonic SPPL2B unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9999 0.9991 1 1 1 1 1 1 1. 1. 1. 0.12 . rs5826760 COSM994061 6(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9998 1 0.9999 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 718.48 19 19 2340154 . G GC 718.48 Mask AC=2;AF=1.00;AN=2;DP=19;FS=0.000;HRun=2;HaplotypeScore=34.6617;MQ=58.60;MQ0=0;QD=37.81;set=variant2 GT:AD:DP:GQ:PL 1/1:0,19:19:54.17:761,54,0 19 2389872 2389872 G C exonic TMPRSS9 nonsynonymous SNV TMPRSS9:NM_182973:exon1:c.G89C:p.S30T 0.58 0.65 0.44 0.45 0.67 0.65 0.6218 0.6183 0.3944 0.4283 0.6184 0.6786 0.625 0.6569 0.65 0.61 0.67 0.52 0.68 rs891174 COSM4131580 1(thyroid) . . . . . . . . . . . 0.259 0.166 T 0.0 0.026 B 0.0 0.013 B 0.999 0.079 N 1 0.090 P 0 0.065 N -2.23 0.871 D 1.04 0.013 N 0.042 0.022 -0.945 0.419 T 0.000 0.000 T . . . -1.627 0.014 0.002 0.837 0.143 0.005 0.024 N c -1.472 -1.451 0.000 0.012 0.516 0.203 0 1.09 0.194 0.451 0.213 -0.719 0.036 0.000 0.063 0.000 0.016 4.121 0.095 . ENSG00000178297.8 Skin_Sun_Exposed_Lower_leg 0.6091 0.6165 0.3994 0.7720 0.4319 0.6174 0.6688 0.6197 0.6573 0.6322 0.6314 0.4558 0.7417 0.4571 0.6269 0.6591 0.6524 het 1994.16 148 19 2389872 . G C 1994.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.620;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9747;MQ=59.84;MQ0=0;MQRankSum=1.200;QD=13.47;ReadPosRankSum=1.013;VQSLOD=5.9127;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,73:148:99:2024,0,2171 19 2422191 2422191 G A exonic TMPRSS9 nonsynonymous SNV TMPRSS9:NM_182973:exon13:c.G2392A:p.G798R 0.0034 0.0008 0.0043 . 0.0089 0.0041 0.0055 0.0020 0.0063 0 0.0014 0.0074 0.0025 0.0031 0.0049 0.0027 0.006 0.011 . rs34615361 . . . . . . . . . . . . . 0.228 0.184 T 0.017 0.163 B 0.011 0.145 B 0.919 0.075 N 1 0.090 N 1.745 0.454 L -2.31 0.878 D -3.16 0.642 D 0.057 0.040 -0.764 0.572 T 0.338 0.705 T 0.049 0.638 D 0.248 0.118 5.179 0.656 0.076 0.031 0.079 N c -1.030 -1.087 0.022 0.135 0.461 0.090 0 0.432 0.157 0.096 0.149 0.902 0.416 0.000 0.063 0.001 0.043 6.022 0.187 . . . 0.0054 0.0019 0.0075 0.0045 0 0.0015 0.0075 0.0064 0.0031 0.0041 0.0009 0.0084 0.0033 0 0.0014 0.0069 0.0020 het 2163.14 173 19 2422191 . G A 2163.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.306;DP=173;Dels=0.00;FS=2.656;HRun=0;HaplotypeScore=0.9973;MQ=59.32;MQ0=0;MQRankSum=-0.740;QD=12.50;ReadPosRankSum=1.625;VQSLOD=5.4358;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:91,82:173:99:2193,0,2286 19 2717256 2717256 C G exonic DIRAS1 synonymous SNV DIRAS1:NM_145173:exon2:c.G549C:p.G183G 0.2 0.017 0.23 0.49 0.14 0.18 0.1844 0.0387 0.2440 0.5038 0.2099 0.1538 0.1859 0.1772 0.11 0.044 0.15 0.13 0.049 rs3745812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1867 0.0376 0.2442 0.1363 0.4941 0.2075 0.1477 0.1654 0.1717 0.1489 0.0432 0.2201 0.1133 0.4748 0.2229 0.1534 0.1749 het 2412.16 195 19 2717256 . C G 2412.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.507;DP=195;Dels=0.00;FS=1.985;HRun=0;HaplotypeScore=6.6742;MQ=59.31;MQ0=0;MQRankSum=-0.637;QD=12.37;ReadPosRankSum=-0.843;VQSLOD=4.3675;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,91:195:99:2442,0,2789 19 2732986 2732986 T C exonic SLC39A3 synonymous SNV SLC39A3:NM_144564:exon3:c.A708G:p.V236V 0.63 0.91 0.39 0.65 0.44 0.58 0.5234 0.8502 0.4017 0.6471 0.5327 0.4738 0.4854 0.5483 0.58 0.84 0.45 0.6 0.41 rs759073 COSM439145 1(urinary_tract);19(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5086 0.8531 0.4147 0.4722 0.6449 0.5293 0.4605 0.4808 0.5370 0.5877 0.8431 0.4014 0.4536 0.6312 0.5276 0.4668 0.5052 het 581.22 41 19 2732986 . T C 581.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.291;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;MQRankSum=1.239;QD=14.18;ReadPosRankSum=0.456;VQSLOD=6.6832;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:611,0,638 19 2733250 2733250 C T exonic SLC39A3 synonymous SNV SLC39A3:NM_144564:exon3:c.G444A:p.V148V 0.1 0.14 0.084 0.027 0.15 0.092 0.1307 0.1704 0.0552 0.0205 0.1440 0.1571 0.1493 0.1141 0.14 0.15 0.14 0.12 0.16 rs61736898 COSM3756582 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1232 0.1511 0.0652 0.1669 0.0207 0.1410 0.1503 0.1297 0.1088 0.1444 0.1532 0.0692 0.1556 0.0167 0.1480 0.1565 0.1386 het 802.60 45 19 2733250 . C T 802.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.429;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6620;MQ=59.49;MQ0=0;MQRankSum=-0.730;QD=17.84;ReadPosRankSum=1.541;VQSLOD=3.7312;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:18,27:45:99:833,0,498 19 2762585 2762585 A C exonic SGTA synonymous SNV SGTA:NM_003021:exon7:c.T555G:p.A185A 0.48 0.65 0.25 0.66 0.24 0.46 0.3302 0.5715 0.3076 0.6441 0.2635 0.2375 0.2698 0.4346 0.34 0.55 0.23 0.46 0.18 rs2302491 COSM3756583 1(breast);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3222 0.5754 0.3152 0.2706 0.6535 0.2591 0.2285 0.2827 0.4274 0.3569 0.5652 0.2792 0.2351 0.6420 0.2616 0.2381 0.2901 het 2159.80 178 19 2762585 . A C 2159.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.651;DP=178;Dels=0.00;FS=1.872;HRun=0;HaplotypeScore=5.5441;MQ=59.21;MQ0=0;MQRankSum=1.260;QD=12.13;ReadPosRankSum=0.116;VQSLOD=5.0155;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,88:178:99:2190,0,2321 19 2767192 2767192 G T exonic SGTA synonymous SNV SGTA:NM_003021:exon4:c.C234A:p.P78P 0.28 0.18 0.23 0.52 0.21 0.3 0.2700 0.1985 0.2828 0.5108 0.2301 0.2408 0.2287 0.2977 0.2 0.18 0.22 0.25 0.14 rs1128925 COSM3756584 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2488 0.1783 0.2751 0.2565 0.5105 0.1890 0.2151 0.2294 0.2702 0.2253 0.1808 0.2309 0.2252 0.5274 0.1990 0.2251 0.2168 het 296.79 24 19 2767192 . G T 296.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9850;MQ=56.43;MQ0=0;MQRankSum=-0.348;QD=12.37;ReadPosRankSum=0.058;VQSLOD=3.2026;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,13:24:99:327,0,294 19 2834808 2834808 T C exonic ZNF554 synonymous SNV ZNF554:NM_001102651:exon5:c.T1575C:p.C525C 0.39 0.33 0.33 0.34 0.45 0.53 0.4455 0.3280 0.3110 0.3416 0.4564 0.4687 0.4798 0.5699 0.43 0.32 0.48 0.42 0.41 rs8102063 COSM5426121 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4434 0.3234 0.3175 0.5355 0.3396 0.4581 0.4710 0.4438 0.5580 0.4167 0.3291 0.3393 0.5960 0.3573 0.4479 0.4677 0.4124 hom 3314.85 116 19 2834808 . T C 3314.85 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=28.58;VQSLOD=8.6730;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3314,268,0 19 2853566 2853566 A G exonic ZNF555 synonymous SNV ZNF555:NM_001172775:exon4:c.A1500G:p.R500R,ZNF555:NM_152791:exon4:c.A1503G:p.R501R 0.88 0.73 0.88 1. 0.85 0.97 0.8718 0.7423 0.9230 0.9999 0.8589 0.8452 0.8910 0.9621 0.81 0.76 0.84 0.85 0.7 rs10412087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8756 0.7429 0.9174 0.8261 0.9998 0.8626 0.8466 0.8596 0.9596 0.8268 0.7443 0.9212 0.8411 1 0.8533 0.8433 0.8432 hom 3941.72 118 19 2853566 . A G 3941.72 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=59.43;MQ0=0;QD=33.40;VQSLOD=9.3411;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3941,304,0 19 2917186 2917186 T C exonic ZNF57 synonymous SNV ZNF57:NM_001319083:exon4:c.T471C:p.T157T,ZNF57:NM_173480:exon4:c.T567C:p.T189T 0.81 0.76 0.88 0.71 0.9 0.86 0.8691 0.7793 0.8866 0.7099 0.9025 0.8986 0.8811 0.8634 0.86 0.78 0.9 0.77 0.89 rs2288959 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8706 0.7773 0.8807 0.8789 0.6967 0.9004 0.9012 0.8916 0.8648 0.8551 0.7768 0.8723 0.8974 0.6665 0.8993 0.9067 0.8890 hom 5166.41 171 19 2917186 . T C 5166.41 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2445;MQ=58.69;MQ0=0;QD=30.21;VQSLOD=6.8454;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:171:99:5128,415,0 19 2917287 2917287 C A exonic ZNF57 nonsynonymous SNV ZNF57:NM_001319083:exon4:c.C572A:p.T191N,ZNF57:NM_173480:exon4:c.C668A:p.T223N 0.47 0.24 0.54 0.63 0.46 0.56 0.4831 0.2655 0.6528 0.6389 0.4918 0.4561 0.4735 0.5263 0.39 0.27 0.45 0.48 0.48 rs2288958 COSM3756586 1(large_intestine) . . . . . . . . . . . 0.093 0.321 T 0.002 0.090 B 0.003 0.080 B . . . 1 0.090 P 0.275 0.100 N 2.43 0.153 T -1.83 0.468 N 0.01 0.010 -0.962 0.388 T 0.000 0.000 T . . . -0.345 0.065 0.522 0.950 0.253 0.003 0.018 N c -1.556 -1.694 0.011 0.121 0.707 0.730 0 -4.04 0.037 -2.676 0.009 -0.886 0.027 0.000 0.063 0.008 0.104 4.722 0.122 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000171970.8 Esophagus_Mucosa 0.4898 0.2628 0.6314 0.4177 0.6296 0.4883 0.4532 0.5060 0.5238 0.4193 0.2653 0.6005 0.4437 0.6112 0.4782 0.4599 0.4806 het 1380.28 101 19 2917287 . C A 1380.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.351;DP=101;Dels=0.00;FS=3.874;HRun=4;HaplotypeScore=5.3550;MQ=58.66;MQ0=0;MQRankSum=0.499;QD=13.67;ReadPosRankSum=0.615;VQSLOD=5.1742;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,49:101:99:1410,0,1521 19 2917612 2917612 T C exonic ZNF57 synonymous SNV ZNF57:NM_001319083:exon4:c.T897C:p.T299T,ZNF57:NM_173480:exon4:c.T993C:p.T331T 0.78 0.73 0.85 0.71 0.88 0.8 0.8408 0.7467 0.8648 0.7108 0.8982 0.8717 0.8359 0.8035 0.83 0.75 0.87 0.77 0.87 rs10410539 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8417 0.7447 0.8569 0.7660 0.6971 0.8954 0.8784 0.8497 0.8050 0.8341 0.7470 0.8413 0.7947 0.6650 0.8946 0.8874 0.8605 hom 2117.57 66 19 2917612 . T C 2117.57 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.680;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7128;MQ=58.73;MQ0=0;MQRankSum=1.680;QD=32.08;ReadPosRankSum=-0.420;VQSLOD=8.1449;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,65:66:99:2151,181,0 19 2934282 2934282 T C exonic ZNF77 synonymous SNV ZNF77:NM_021217:exon4:c.A843G:p.S281S 0.84 0.91 0.92 0.58 0.94 0.86 0.8904 0.9277 0.8731 0.5384 0.8393 0.9442 0.8722 0.8669 0.94 0.93 0.95 0.81 0.95 rs3746073 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8872 0.9274 0.8790 0.9599 0.5340 0.8371 0.9469 0.9117 0.8661 0.8977 0.9260 0.9165 0.9536 0.4969 0.8371 0.9369 0.8819 hom 4724.66 152 19 2934282 . T C 4724.66 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3123;MQ=58.89;MQ0=0;QD=31.08;VQSLOD=9.6906;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:152:99:4669,394,0 19 2936623 2936623 C T exonic ZNF77 synonymous SNV ZNF77:NM_021217:exon3:c.G210A:p.E70E 0.84 0.93 0.92 0.58 0.93 0.84 0.8894 0.9451 0.8723 0.5361 0.8393 0.9441 0.8756 0.8507 0.95 0.95 0.95 0.85 0.93 rs4807371 COSM5437389 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8859 0.9442 0.8775 0.9601 0.5318 0.8372 0.9468 0.9109 0.8487 0.9020 0.9429 0.9165 0.9536 0.4944 0.8371 0.9368 0.8798 hom 1990.15 63 19 2936623 . C T 1990.15 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.70;MQ0=0;QD=31.59;VQSLOD=9.2468;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2023,156,0 19 2939396 2939396 T C exonic ZNF77 nonsynonymous SNV ZNF77:NM_021217:exon2:c.A13G:p.I5V 0.18 0.1 0.25 0.37 0.12 0.085 0.1359 0.1037 0.2452 0.3754 0.0617 0.1144 0.1244 0.0714 0.12 0.11 0.12 0.18 0.11 rs12609268 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.98 0.012 N 4.72 0.017 T 0.87 0.017 N 0.044 0.024 -1.006 0.282 T 0.000 0.000 T . . . -1.826 0.010 0.002 0.283 0.014 0.011 0.040 N c -1.310 -1.203 0.000 0.012 0.563 0.310 0 1.42 0.214 0.143 0.158 -0.124 0.112 0.022 0.197 0.243 0.226 4.274 0.102 Krueppel-associated box . . 0.1398 0.1073 0.2332 0.1157 0.3759 0.0597 0.1171 0.1373 0.0703 0.1283 0.1159 0.1993 0.1159 0.3508 0.0660 0.1238 0.1071 het 2107.34 174 19 2939396 . T C 2107.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.074;DP=174;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8313;MQ=57.77;MQ0=0;MQRankSum=-0.782;QD=12.11;ReadPosRankSum=0.990;VQSLOD=4.7333;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,82:174:99:2137,0,2256 19 2939401 2939401 C G exonic ZNF77 nonsynonymous SNV ZNF77:NM_021217:exon2:c.G8C:p.C3S 0.18 0.1 0.25 0.37 0.12 0.085 0.1358 0.1037 0.2452 0.3754 0.0616 0.1143 0.1247 0.0707 0.12 0.11 0.12 0.18 0.11 rs12610412 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.475 0.001 N 5.83 0.007 T 3.79 0.001 N 0.01 0.001 -0.975 0.361 T 0.000 0.000 T . . . -1.936 0.009 0.001 0.172 0.005 0.000 0.003 N c -1.751 -1.645 0.000 0.012 0.563 0.310 0 1.42 0.214 0.012 0.131 -0.068 0.120 0.000 0.063 0.067 0.174 3.276 0.064 Krueppel-associated box . . 0.1395 0.1073 0.2330 0.1155 0.3757 0.0596 0.1170 0.1369 0.0693 0.1280 0.1155 0.1993 0.1159 0.3493 0.0659 0.1238 0.1059 het 2310.28 177 19 2939401 . C G 2310.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.592;DP=177;Dels=0.00;FS=3.468;HRun=1;HaplotypeScore=3.8313;MQ=57.84;MQ0=0;MQRankSum=0.122;QD=13.05;ReadPosRankSum=-0.227;VQSLOD=4.2794;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,88:177:99:2340,0,2369 19 3119239 3119239 C T exonic GNA11 synonymous SNV GNA11:NM_002067:exon6:c.C771T:p.T257T 0.35 0.17 0.4 0.41 0.43 0.42 0.4263 0.2146 0.4189 0.4165 0.3809 0.4679 0.3819 0.4221 0.38 0.21 0.47 0.32 0.4 rs4900 COSM3756588 1(breast);1(large_intestine) Benign not_specified RCV000245998.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4269 0.2072 0.4220 0.3987 0.4074 0.3758 0.4752 0.4342 0.4219 0.3830 0.2226 0.4448 0.3775 0.4158 0.3626 0.4728 0.4059 het 1730.50 191 19 3119239 . C T 1730.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.476;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1622;MQ=59.54;MQ0=0;MQRankSum=1.698;QD=9.06;ReadPosRankSum=0.816;VQSLOD=3.9546;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:124,67:191:99:1760,0,3292 19 3150238 3150238 A G exonic GNA15 nonsynonymous SNV GNA15:NM_002068:exon3:c.A440G:p.Y147C 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 1. 0.85 rs310680 COSM4590370 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 0.9999 1.0000 1 1.0000 1 1 1 1 1 1 1 1 hom 4406.87 138 19 3150238 . A G 4406.87 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.631;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5565;MQ=59.16;MQ0=0;MQRankSum=-1.505;QD=31.93;ReadPosRankSum=0.139;VQSLOD=9.2513;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,137:138:99:4375,312,0 19 3179427 3179427 G A exonic S1PR4 nonsynonymous SNV S1PR4:NM_003775:exon1:c.G637A:p.A213T 0.0026 . 0.0043 . 0.008 0.002 0.0064 0.0017 0.0008 0 0.0399 0.0066 0.0124 0.0020 0.0032 0.0016 0.0041 . . rs143964699 . . . . . . . . . . . . . 1.0 0.010 T 0.676 0.394 P 0.202 0.353 B 0.075 0.213 N 0.817 0.289 N 0.205 0.094 N -0.63 0.720 T 1.0 0.014 N 0.089 0.086 -0.979 0.353 T 0.087 0.338 T . . . 0.257 0.119 5.269 0.172 0.005 0.657 0.325 D c -0.564 -0.585 1.000 0.747 0.442 0.072 0 1.22 0.202 1.979 0.400 0.962 0.568 1.000 0.715 0.373 0.250 3.784 0.082 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0068 0.0014 0.0008 0.0024 0 0.0381 0.0058 0.0097 0.0017 0.0109 0.0014 0.0048 0 0 0.0467 0.0092 0.0204 het 2794.58 218 19 3179427 . G A 2794.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.393;DP=218;DS;Dels=0.00;FS=1.894;HRun=0;HaplotypeScore=8.8479;MQ=58.35;MQ0=0;MQRankSum=0.839;QD=12.82;ReadPosRankSum=1.730;VQSLOD=2.5443;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,108:218:99:2825,0,2997 19 3179884 3179884 G T exonic S1PR4 nonsynonymous SNV S1PR4:NM_003775:exon1:c.G1094T:p.R365L 0.0076 . 0.0072 0.019 0.004 0.01 0.0073 0.0009 0.0068 0.0169 0.0015 0.0072 0.0092 0.0097 0.0051 0.0009 0.0072 0.022 0.0082 rs3746072 . . . . . . . . . . . . . 0.111 0.290 T 0.956 0.527 P 0.421 0.433 B 0.430 0.128 N 1.000 0.090 N 2.24 0.636 M -1.51 0.814 D -0.9 0.242 N 0.518 0.560 -0.848 0.521 T 0.191 0.543 T . . . 0.814 0.172 9.552 0.981 0.381 0.131 0.175 N c -0.388 -0.495 1.000 0.747 0.442 0.072 0 3.94 0.446 0.307 0.189 0.962 0.568 0.000 0.063 0.045 0.161 11.574 0.499 . . . 0.0078 0.0009 0.0081 0.0064 0.0180 0.0024 0.0078 0.0071 0.0103 0.0073 0.0008 0.0119 0.0099 0.0160 0.0043 0.0104 0.0092 het 2245.46 174 19 3179884 . G T 2245.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.016;DP=174;Dels=0.00;FS=5.565;HRun=0;HaplotypeScore=4.6904;MQ=59.09;MQ0=0;MQRankSum=-0.545;QD=12.90;ReadPosRankSum=-0.267;VQSLOD=4.6791;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:87,86:174:99:2275,0,2091 19 3611972 3611972 G A exonic CACTIN synonymous SNV CACTIN:NM_001080543:exon10:c.C2226T:p.N742N,CACTIN:NM_021231:exon10:c.C2226T:p.N742N 0.43 0.3 0.61 0.33 0.58 0.44 0.5342 0.3548 0.6747 0.3223 0.5877 0.5791 0.5682 0.4476 0.5 0.36 0.57 0.4 . rs2158935 COSM3756672;COSM3756671 1(breast);2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5406 0.3484 0.6602 0.5756 0.3182 0.5906 0.5766 0.5745 0.4460 0.5081 0.3654 0.6244 0.5563 0.3234 0.5955 0.5819 0.5296 hom 2274.85 68 19 3611972 . G A 2274.85 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;QD=33.45;VQSLOD=9.7174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2308,187,0 19 3653525 3653525 C T exonic PIP5K1C synonymous SNV PIP5K1C:NM_001195733:exon7:c.G684A:p.S228S,PIP5K1C:NM_001300849:exon7:c.G684A:p.S228S,PIP5K1C:NM_012398:exon7:c.G684A:p.S228S 0.54 0.45 0.65 0.69 0.56 0.43 0.5603 0.4617 0.7461 0.7002 0.5495 0.5615 0.5885 0.4169 0.53 0.46 0.56 0.51 0.47 rs2074957 COSM4131725 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5686 0.4621 0.7268 0.5954 0.6963 0.5487 0.5581 0.5947 0.4163 0.5510 0.4738 0.6957 0.5433 0.7007 0.5705 0.5671 0.5532 hom 3400.93 106 19 3653525 . C T 3400.93 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4408;MQ=59.11;MQ0=0;QD=32.08;VQSLOD=7.5560;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3400,271,0 19 3740658 3740658 T G exonic TJP3 synonymous SNV TJP3:NM_001267560:exon14:c.T1740G:p.L580L,TJP3:NM_001267561:exon14:c.T1767G:p.L589L 0.55 0.51 0.59 0.52 0.51 0.65 0.5400 0.5392 0.5537 0.5264 0.4670 0.5258 0.5182 0.6204 0.52 0.53 0.52 0.54 0.39 rs10416362 COSM439330 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5220 0.5171 0.5473 0.4947 0.5021 0.4445 0.5150 0.4994 0.5995 0.5062 0.5189 0.5398 0.5099 0.5094 0.4469 0.5086 0.5329 het 605.43 31 19 3740658 . T G 605.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.804;DP=31;Dels=0.00;FS=1.987;HRun=0;HaplotypeScore=0.0000;MQ=58.38;MQ0=0;MQRankSum=-0.907;QD=19.53;ReadPosRankSum=-0.389;VQSLOD=3.9954;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,25:31:99:635,0,146 19 3750615 3750615 T C exonic TJP3 nonsynonymous SNV TJP3:NM_001267560:exon21:c.T2693C:p.M898T,TJP3:NM_001267561:exon21:c.T2720C:p.M907T 0.53 0.3 0.69 0.64 0.56 0.61 0.5862 0.3794 0.7375 0.6726 0.6224 0.5740 0.5956 0.5896 0.49 0.35 0.55 0.48 0.48 rs1046268 COSM3756702 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.044 0.237 N 1 0.090 P -2.39 0.001 N 3.39 0.057 T 1.18 0.011 N 0.141 0.241 -1.002 0.293 T 0.000 0.000 T . . . -1.956 0.009 0.001 0.429 0.032 0.017 0.053 N c -1.594 -1.411 0.001 0.076 0.632 0.406 0 2.44 0.287 1.412 0.341 0.016 0.142 0.838 0.300 0.241 0.226 4.909 0.131 . ENSG00000011132.7 Pancreas 0.5688 0.3387 0.7171 0.5588 0.6529 0.5646 0.5421 0.5882 0.5670 0.4976 0.3325 0.7139 0.5467 0.6455 0.5813 0.5401 0.5770 het 236.07 24 19 3750615 . T C 236.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.556;DP=24;Dels=0.00;FS=3.755;HRun=0;HaplotypeScore=0.9979;MQ=55.80;MQ0=0;MQRankSum=0.088;QD=9.84;ReadPosRankSum=-0.615;VQSLOD=2.8984;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,10:24:99:266,0,339 19 3750622 3750622 A C exonic TJP3 synonymous SNV TJP3:NM_001267560:exon21:c.A2700C:p.V900V,TJP3:NM_001267561:exon21:c.A2727C:p.V909V 0.6 0.52 0.71 0.64 0.56 0.61 0.6012 0.5640 0.7456 0.6721 0.6203 0.5737 0.5938 0.5896 0.55 0.54 0.56 0.56 0.5 rs1046271 COSM3756703 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5837 0.5413 0.7281 0.5605 0.6547 0.5650 0.5434 0.5989 0.5684 0.5567 0.5363 0.7230 0.5567 0.6474 0.5813 0.5415 0.5895 het 223.48 24 19 3750622 . A C 223.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.697;DP=24;Dels=0.00;FS=1.744;HRun=1;HaplotypeScore=0.9979;MQ=55.80;MQ0=0;MQRankSum=-0.596;QD=9.31;ReadPosRankSum=0.060;VQSLOD=2.8462;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,9:24:99:253,0,334 19 3752874 3752874 A G exonic APBA3 nonsynonymous SNV APBA3:NM_004886:exon7:c.T1126C:p.C376R 0.54 0.32 0.69 0.63 0.57 0.6 0.5633 0.3526 0.7396 0.6541 0.5789 0.5508 0.5579 0.5676 0.5 0.41 0.55 0.52 0.43 rs8102086 COSM3756704 1(thyroid);2(large_intestine) . . . . . . . . . . . 0.304 0.143 T 0.0 0.026 B 0.0 0.013 B 0.208 0.164 N 0.984 0.248 P 0 0.065 N 3.36 0.059 T 2.97 0.001 N 0.012 0.002 -1.055 0.129 T 0.000 0.000 T . . . -0.125 0.082 1.550 0.733 0.099 0.313 0.241 N c -1.127 -1.081 0.001 0.079 0.718 0.821 0 1.84 0.242 0.967 0.287 -0.484 0.053 0.644 0.279 0.072 0.177 2.674 0.047 . ENSG00000011132.7 Pancreas 0.5727 0.3496 0.7289 0.5590 0.6500 0.5650 0.5479 0.5903 0.5658 0.5018 0.3410 0.7236 0.5596 0.6516 0.5767 0.5431 0.5770 het 744.43 61 19 3752874 . A G 744.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.426;DP=61;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9947;MQ=60.00;MQ0=0;MQRankSum=1.228;QD=12.20;ReadPosRankSum=0.740;VQSLOD=6.3280;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,29:61:99:774,0,727 19 3831709 3831709 C T exonic ZFR2 nonsynonymous SNV ZFR2:NM_015174:exon4:c.G547A:p.V183M 0.26 0.23 0.16 0.26 0.2 0.42 0.2922 0.2590 0.2281 0.2924 0.3181 0.2594 0.2945 0.4843 0.19 0.18 0.19 0.27 . rs2240234 COSM4131762 1(thyroid) . . . . . . . . . . . 0.063 0.367 T 0.319 0.312 B 0.03 0.205 B 0.938 0.084 N 1 0.090 P 0.995 0.252 L 3.13 0.080 T -0.31 0.121 N 0.014 0.002 -0.943 0.421 T 0.000 0.000 T . . . 0.438 0.136 6.940 0.974 0.330 0.013 0.046 N c -1.217 -1.337 0.008 0.117 0.646 0.450 0 -2.61 0.058 -1.972 0.016 -0.755 0.034 0.000 0.063 0.001 0.043 4.318 0.104 . . . 0.2152 0.2068 0.1361 0.2014 0.2346 0.2086 0.1980 0.1979 0.3757 0.2017 0.1974 0.1337 0.2315 0.2547 0.1920 0.2045 0.1945 het 122.22 10 19 3831709 . C T 122.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.383;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.365;QD=12.22;ReadPosRankSum=-0.365;VQSLOD=11.5279;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,6:10:99:152,0,121 19 3831765 3831765 G A exonic ZFR2 nonsynonymous SNV ZFR2:NM_015174:exon4:c.C491T:p.S164L 0.37 0.39 0.42 0.42 0.42 0.2 0.3897 0.4203 0.4593 0.4287 0.3652 0.3989 0.3992 0.2690 0.39 0.4 0.39 0.4 . rs2240235 COSM439377 1(large_intestine) . . . . . . . . . . . 0.006 0.614 D 0.035 0.192 B 0.003 0.080 B 0.123 0.189 N 1 0.090 P 1.32 0.331 L 3.18 0.075 T -2.39 0.526 N 0.033 0.013 -0.914 0.464 T 0.000 0.000 T . . . 2.508 0.363 19.52 0.996 0.720 0.051 0.107 N c -0.951 -1.011 0.060 0.152 0.660 0.495 0 2.14 0.264 0.749 0.258 0.684 0.296 0.000 0.063 0.002 0.062 6.219 0.198 . ENSG00000105278.6 Testis 0.3802 0.4027 0.4441 0.3859 0.4258 0.3360 0.3928 0.3879 0.2550 0.3900 0.4061 0.4498 0.3792 0.4317 0.3365 0.3877 0.3558 het 204.86 19 19 3831765 . G A 204.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.919;DP=19;Dels=0.00;FS=4.320;HRun=1;HaplotypeScore=0.0000;MQ=56.99;MQ0=0;MQRankSum=-0.939;QD=10.78;ReadPosRankSum=-1.429;VQSLOD=3.7480;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:235,0,265 19 4013322 4013322 T C exonic PIAS4 synonymous SNV PIAS4:NM_015897:exon2:c.T429C:p.D143D 0.29 0.45 0.23 0.038 0.33 0.32 0.2979 0.4254 0.1620 0.0471 0.3151 0.3220 0.3330 0.3413 0.35 0.42 0.32 0.33 0.28 rs2289865 COSM439484 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2903 0.4219 0.1695 0.3698 0.0466 0.3207 0.3188 0.3043 0.3414 0.3258 0.4206 0.2017 0.3311 0.0388 0.3149 0.3125 0.3065 hom 2874.79 101 19 4013322 . T C 2874.79 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.21;MQ0=0;QD=28.46;VQSLOD=8.4082;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:2908,244,0 19 4033462 4033462 T C exonic PIAS4 synonymous SNV PIAS4:NM_015897:exon9:c.T1026C:p.C342C 0.9 0.86 0.95 0.95 0.93 0.82 0.9038 0.8675 0.9683 0.9570 0.9420 0.9265 0.9040 0.8229 0.91 0.86 0.93 0.83 0.24 rs7255988 COSM5983611 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9162 0.8656 0.9680 0.9130 0.9497 0.9274 0.9282 0.9255 0.8206 0.9087 0.8620 0.9618 0.9106 0.9544 0.9274 0.9224 0.9232 hom 341.72 10 19 4033462 . T C 341.72 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.17;VQSLOD=13.3553;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:375,30,0 19 4101062 4101062 G T exonic MAP2K2 synonymous SNV MAP2K2:NM_030662:exon6:c.C660A:p.I220I 0.43 0.24 0.56 0.62 0.48 0.36 0.5472 0.3578 0.6709 0.6616 0.5790 0.5702 0.5764 0.4412 0.42 0.29 0.48 0.37 0.16 rs10250 . . Benign|Benign not_specified|Rasopathy RCV000039490.3|RCV000149846.1 MedGen|MedGen:Orphanet CN169374|CN166718:ORPHA98733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4783 0.2674 0.5777 0.5369 0.5924 0.4561 0.4780 0.4970 0.3933 0.4250 0.2672 0.5659 0.5633 0.5919 0.4575 0.4772 0.4773 het 166.09 15 19 4101062 . G T 166.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.437;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.27;MQ0=2;MQRankSum=0.978;QD=11.07;ReadPosRankSum=-0.271;VQSLOD=5.1360;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:196,0,135 19 4102449 4102449 G A exonic MAP2K2 synonymous SNV MAP2K2:NM_030662:exon4:c.C453T:p.D151D 0.11 0.02 0.099 0.053 0.2 0.21 0.2315 0.0597 0.1468 0.0525 0.3024 0.2757 0.2244 0.2531 0.14 0.044 0.19 0.087 0.2 rs17851657 COSM4131862;COSM1129849 6(soft_tissue);1(prostate);1(thyroid) Benign|Benign not_specified|Rasopathy RCV000039484.3|RCV000149845.3 MedGen|MedGen:Orphanet CN169374|CN166718:ORPHA98733 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1639 0.0408 0.0891 0.2153 0.0348 0.1758 0.2027 0.1777 0.2134 0.1341 0.0439 0.0947 0.2152 0.0340 0.1853 0.1837 0.1725 het 224.97 18 19 4102449 . G A 224.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.433;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.144;QD=12.50;ReadPosRankSum=-0.625;VQSLOD=11.9663;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:255,0,194 19 4154910 4154910 C T exonic CREB3L3 synonymous SNV CREB3L3:NM_001271995:exon2:c.C42T:p.A14A,CREB3L3:NM_001271996:exon2:c.C42T:p.A14A,CREB3L3:NM_001271997:exon2:c.C42T:p.A14A,CREB3L3:NM_032607:exon2:c.C42T:p.A14A 0.086 0.086 0.082 0.031 0.14 0.086 0.1124 0.0906 0.0627 0.0426 0.1168 0.1356 0.1256 0.1013 0.12 0.091 0.14 0.076 0.14 rs35474881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1109 0.0874 0.0669 0.1659 0.0439 0.1130 0.1340 0.1235 0.1030 0.1066 0.0919 0.0871 0.1667 0.0347 0.1151 0.1195 0.1263 het 1961.16 138 19 4154910 . C T 1961.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.386;DP=138;Dels=0.00;FS=0.669;HRun=1;HaplotypeScore=0.5784;MQ=59.46;MQ0=0;MQRankSum=1.416;QD=14.21;ReadPosRankSum=1.821;VQSLOD=5.5811;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:68,70:138:99:1991,0,1891 19 4180836 4180836 C T exonic SIRT6 nonsynonymous SNV SIRT6:NM_001193285:exon2:c.G137A:p.S46N,SIRT6:NM_001321059:exon2:c.G137A:p.S46N,SIRT6:NM_001321060:exon2:c.G137A:p.S46N,SIRT6:NM_001321063:exon2:c.G137A:p.S46N,SIRT6:NM_016539:exon2:c.G137A:p.S46N 0.84 0.94 0.78 0.71 0.93 0.79 0.8903 0.9370 0.7386 0.7181 0.9099 0.9445 0.8627 0.8332 0.94 0.94 0.95 0.89 0.89 rs352493 . . . . . . . . . . . . . 0.411 0.123 T 0.0 0.026 B 0.001 0.040 B 0.248 0.156 N 1 0.090 P -0.5 0.026 N 2.4 0.156 T 1.43 0.008 N 0.032 0.012 -1.056 0.127 T 0.000 0.000 T . . . 0.039 0.097 2.973 0.831 0.140 0.050 0.107 N c -1.197 -1.084 1.000 0.480 0.757 0.989 0 1.48 0.218 1.189 0.315 -0.310 0.079 0.838 0.300 0.652 0.299 5.273 0.148 DHS-like NAD/FAD-binding domain|Sirtuin family\x2c catalytic core domain . . 0.8854 0.9365 0.7529 0.9477 0.7287 0.9097 0.9466 0.8961 0.8316 0.9201 0.9316 0.7859 0.9536 0.7243 0.9121 0.9439 0.9114 hom 1528.18 45 19 4180836 . C T 1528.18 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.52;MQ0=0;QD=33.96;VQSLOD=8.3143;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1561,129,0 19 4216910 4216910 G A exonic ANKRD24 nonsynonymous SNV ANKRD24:NM_133475:exon18:c.G1753A:p.E585K 0.71 0.55 0.79 0.8 0.74 0.76 0.7513 0.6115 0.7674 0.8109 0.7653 0.7573 0.7712 0.7562 0.72 0.64 0.77 0.66 . rs10413818 COSM5001901;COSM5001900;COSM5001902 1(pancreas) . . . . . . . . . . . 0.319 0.154 T 0.002 0.211 B 0.001 0.127 B 0.020 0.015 N 1 0.090 P 0.53 0.137 N 1.1 0.475 T -0.04 0.076 N 0.054 0.036 -0.965 0.382 T 0.000 0.000 T . . . 0.190 0.112 4.574 0.645 0.073 0.002 0.010 N c -1.632 -1.683 0.000 0.035 0.635 0.413 0 -2.9 0.053 -1.411 0.026 -0.755 0.034 0.000 0.063 0.000 0.016 9.384 0.373 . ENSG00000105248.11 Testis 0.7460 0.5981 0.7638 0.6781 0.7966 0.7570 0.7551 0.7309 0.7520 0.7156 0.6003 0.7584 0.7119 0.8020 0.7692 0.7569 0.7382 het 566.35 31 19 4216910 . G A 566.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.305;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5964;MQ=58.64;MQ0=0;MQRankSum=-0.399;QD=18.27;ReadPosRankSum=0.070;VQSLOD=4.9544;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,23:31:99:596,0,185 19 4217207 4217207 T G exonic ANKRD24 nonsynonymous SNV ANKRD24:NM_133475:exon18:c.T2050G:p.S684A 0.97 1. 0.96 1. 0.91 0.99 0.9473 0.9873 0.9704 0.9999 0.9243 0.9238 0.9320 0.9861 0.94 0.99 0.92 0.96 . rs353693 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.290 0.039 N 1 0.090 P -0.345 0.033 N 1.52 0.315 T -0.05 0.078 N 0.003 0.000 -0.996 0.310 T 0.000 0.000 T . . . -1.297 0.022 0.005 0.674 0.081 0.000 0.001 N c -1.537 -1.500 0.000 0.012 0.696 0.567 0 1.09 0.194 -0.477 0.066 -0.667 0.040 0.000 0.063 0.000 0.016 8.193 0.304 . . . 0.9458 0.9877 0.9659 0.9059 0.9999 0.9247 0.9227 0.9396 0.9851 0.9474 0.9867 0.9570 0.9272 0.9994 0.9361 0.9221 0.9356 hom 415.53 12 19 4217207 . T G 415.53 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=34.63;VQSLOD=9.5113;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:449,36,0 19 4236996 4236996 G A exonic EBI3 nonsynonymous SNV EBI3:NM_005755:exon5:c.G601A:p.V201I 0.45 0.62 0.27 0.44 0.31 0.49 0.3591 0.5957 0.2731 0.4640 0.2939 0.3007 0.3591 0.4908 0.39 0.58 0.29 0.43 0.35 rs4740 COSM3766358 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.987 0.020 T 0.06 0.217 B 0.023 0.188 B 0.410 0.130 N 1 0.090 P -0.275 0.037 N 0.29 0.589 T 0.27 0.043 N 0.087 0.083 -1.000 0.299 T 0.000 0.000 T . . . -1.896 0.009 0.002 0.424 0.031 0.015 0.048 N c -1.853 -1.928 0.943 0.275 0.672 0.522 0 -8.95 0.007 -1.547 0.023 -1.605 0.009 0.000 0.063 0.001 0.043 20.474 0.992 Fibronectin type III|Immunoglobulin-like fold ENSG00000105251.6|ENSG00000105251.6|ENSG00000105248.11|ENSG00000105248.11|ENSG00000105251.6|ENSG00000105248.11|ENSG00000105248.11 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Hippocampus|Colon_Transverse|Testis|Whole_Blood 0.3367 0.5909 0.2689 0.3214 0.4554 0.2899 0.2882 0.3200 0.4482 0.3909 0.5885 0.3058 0.3046 0.4703 0.2879 0.3023 0.3224 het 1163.08 92 19 4236996 . G A 1163.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.040;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7803;MQ=58.07;MQ0=0;MQRankSum=0.699;QD=12.64;ReadPosRankSum=-0.181;VQSLOD=5.6203;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,41:92:99:1193,0,1471 19 4237067 4237067 A G exonic EBI3 synonymous SNV EBI3:NM_005755:exon5:c.A672G:p.T224T 0.46 0.67 0.28 0.44 0.31 0.49 0.3602 0.6318 0.2759 0.4655 0.2934 0.3011 0.3599 0.4801 0.4 0.62 0.29 0.47 0.38 rs4905 COSM5427087 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3367 0.6274 0.2674 0.3183 0.4546 0.2884 0.2877 0.3241 0.4413 0.4013 0.6259 0.3055 0.3079 0.4681 0.2881 0.3022 0.3248 het 1206.50 94 19 4237067 . A G 1206.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.579;DP=94;Dels=0.00;FS=11.050;HRun=0;HaplotypeScore=1.8646;MQ=57.09;MQ0=0;MQRankSum=0.098;QD=12.84;ReadPosRankSum=-1.883;VQSLOD=2.8522;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,47:94:99:1236,0,1323 19 4251069 4251069 T C exonic CCDC94 synonymous SNV CCDC94:NM_018074:exon3:c.T171C:p.N57N 0.48 0.73 0.28 0.45 0.3 0.49 0.3628 0.6851 0.2779 0.4668 0.2931 0.2961 0.3488 0.4627 0.41 0.67 0.29 0.48 0.33 rs1045750 COSM148458 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3518 0.6906 0.2829 0.3319 0.4711 0.2913 0.2933 0.3311 0.4578 0.4167 0.6810 0.3031 0.3046 0.4721 0.2871 0.3021 0.3214 het 975.93 91 19 4251069 . T C 975.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.277;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6493;MQ=59.49;MQ0=0;MQRankSum=0.004;QD=10.72;ReadPosRankSum=0.477;VQSLOD=6.5638;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,39:91:99:1006,0,1422 19 4254375 4254375 C T exonic CCDC94 synonymous SNV CCDC94:NM_018074:exon4:c.C294T:p.Y98Y 0.42 0.51 0.27 0.44 0.31 0.49 0.3469 0.4932 0.2704 0.4645 0.2959 0.2988 0.3436 0.4624 0.36 0.49 0.29 0.42 0.36 rs11085068 COSM148459 1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3404 0.4969 0.2750 0.3317 0.4697 0.2950 0.2961 0.3270 0.4570 0.3644 0.4894 0.2967 0.3046 0.4726 0.2890 0.3060 0.3160 het 839.83 120 19 4254375 . C T 839.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.416;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4905;MQ=59.38;MQ0=0;MQRankSum=0.564;QD=7.00;ReadPosRankSum=-1.627;VQSLOD=4.4143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,41:120:99:870,0,2072 19 4288332 4288332 A G exonic SHD nonsynonymous SNV SHD:NM_020209:exon5:c.A809G:p.N270S 0.48 0.62 0.56 0.34 0.38 0.5 0.4120 0.5797 0.5733 0.3369 0.3181 0.3594 0.3969 0.4846 0.44 0.58 0.37 0.56 0.43 rs888930 COSM148460 1(stomach) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.404 N 1.000 0.090 P -0.865 0.015 N -2.33 0.879 D 1.36 0.009 N 0.013 0.002 -0.949 0.411 T 0.000 0.000 T . . . 1.104 0.200 11.23 0.838 0.144 0.042 0.097 N c -0.709 -0.453 1.000 0.416 0.497 0.185 0 3.99 0.454 5.898 0.694 0.072 0.180 1.000 0.715 0.835 0.348 9.405 0.374 SH2 domain . . 0.4130 0.5821 0.5692 0.3634 0.3344 0.3172 0.3616 0.3928 0.4785 0.4188 0.5779 0.5585 0.38 0.3115 0.3218 0.3550 0.3924 hom 2049.71 63 19 4288332 . A G 2049.71 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=32.54;VQSLOD=9.6630;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2083,163,0 19 4292841 4292841 C G exonic TMIGD2 nonsynonymous SNV TMIGD2:NM_001308232:exon4:c.G244C:p.A82P,TMIGD2:NM_001169126:exon5:c.G592C:p.A198P,TMIGD2:NM_144615:exon5:c.G604C:p.A202P 0.19 0.11 0.26 0.19 0.2 0.21 0.1989 0.1395 0.2955 0.2003 0.1856 0.1879 0.2067 0.2157 0.15 0.12 0.17 0.15 0.22 rs28477168 . . . . . . . . . . . . . 0.017 0.512 D 0.899 0.475 P 0.469 0.449 P . . . 1 0.090 P 0.695 0.181 N 1.19 0.517 T -2.54 0.550 D 0.064 0.049 -1.083 0.067 T 0.000 0.000 T . . . 0.747 0.165 9.131 0.955 0.266 0.014 0.046 N c -1.072 -1.315 0.000 0.046 0.516 0.203 0 -5.28 0.025 -2.037 0.015 -1.041 0.020 0.000 0.063 0.000 0.016 5.114 0.141 . . . 0.2032 0.1362 0.2961 0.1383 0.2037 0.1825 0.1911 0.1893 0.2170 0.1734 0.1251 0.2871 0.1755 0.2069 0.1896 0.1861 0.1990 hom 2617.41 82 19 4292841 . C G 2617.41 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=31.92;VQSLOD=7.9323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2650,208,0 19 4306311 4306311 T C exonic FSD1 synonymous SNV FSD1:NM_001330429:exon3:c.T228C:p.R76R,FSD1:NM_024333:exon3:c.T228C:p.R76R 0.58 0.55 0.64 0.41 0.66 0.68 0.6221 0.5806 0.6594 0.3978 0.5575 0.6355 0.6344 0.7101 0.62 0.59 0.64 0.59 0.6 rs4807578 COSM4131964 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6227 0.5743 0.6627 0.6362 0.4014 0.5639 0.6366 0.6311 0.7132 0.5992 0.5726 0.6727 0.6167 0.3924 0.5623 0.6406 0.6052 hom 2725.17 81 19 4306311 . T C 2725.17 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6439;MQ=59.48;MQ0=0;QD=33.64;VQSLOD=9.6571;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2758,220,0 19 4352959 4352959 A G exonic MPND synonymous SNV MPND:NM_001159846:exon4:c.A597G:p.A199A,MPND:NM_001300862:exon4:c.A597G:p.A199A,MPND:NM_032868:exon4:c.A597G:p.A199A 0.65 0.64 0.72 0.77 0.53 0.63 0.5842 0.6344 0.7108 0.7404 0.5025 0.5357 0.5631 0.6211 0.57 0.63 0.55 0.56 0.34 rs11882587 COSM4131974;COSM4131975 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5686 0.6305 0.7103 0.5231 0.7375 0.4967 0.5313 0.5510 0.5989 0.5671 0.6177 0.6794 0.5 0.7426 0.5023 0.5297 0.5542 hom 1178.94 40 19 4352959 . A G 1178.94 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.47;VQSLOD=13.4258;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1212,99,0 19 4357555 4357555 A G exonic MPND synonymous SNV MPND:NM_001159846:exon8:c.A1059G:p.S353S,MPND:NM_001300862:exon10:c.A1209G:p.S403S,MPND:NM_032868:exon10:c.A1209G:p.S403S 0.99 1. 0.99 1. 0.98 0.98 0.9827 0.9957 0.9776 0.9999 0.9813 0.9805 0.9760 0.9794 0.98 0.99 0.98 0.99 0.84 rs4807583 COSM4131976;COSM4131977 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9827 0.9957 0.9766 0.9978 0.9999 0.9821 0.9795 0.9842 0.9801 0.9853 0.9964 0.9749 0.9868 1 0.9814 0.9791 0.9806 hom 865.51 28 19 4357555 . A G 865.51 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=30.91;VQSLOD=8.2528;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:72.22:899,72,0 19 4362691 4362691 G C exonic SH3GL1 synonymous SNV SH3GL1:NM_001199943:exon7:c.C627G:p.P209P,SH3GL1:NM_001199944:exon8:c.C579G:p.P193P,SH3GL1:NM_003025:exon8:c.C771G:p.P257P 0.39 0.34 0.41 0.6 0.27 0.35 0.3346 0.3464 0.4726 0.5892 0.3322 0.2795 0.3182 0.3213 0.3 0.34 0.28 0.39 0.2 rs243261 COSM1750859 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3378 0.3382 0.4616 0.3189 0.5802 0.3283 0.2727 0.3311 0.3169 0.3198 0.3323 0.4484 0.3133 0.5743 0.3356 0.2734 0.3340 het 1205.16 115 19 4362691 . G C 1205.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.269;DP=115;Dels=0.00;FS=7.414;HRun=0;HaplotypeScore=4.2422;MQ=59.45;MQ0=0;MQRankSum=1.568;QD=10.48;ReadPosRankSum=-1.459;VQSLOD=3.4458;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,50:115:99:1235,0,1736 19 4409756 4409756 A G exonic CHAF1A synonymous SNV CHAF1A:NM_005483:exon3:c.A960G:p.R320R 0.14 0.049 0.31 0.02 0.24 0.16 0.2019 0.0899 0.2283 0.0213 0.1590 0.2421 0.2084 0.2036 0.19 0.089 0.25 0.065 0.17 rs2230636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2010 0.0857 0.2330 0.2232 0.0243 0.1607 0.2449 0.2179 0.1904 0.1734 0.0841 0.2124 0.1656 0.0266 0.1591 0.2418 0.1857 het 1438.95 106 19 4409756 . A G 1438.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.302;DP=106;Dels=0.00;FS=1.642;HRun=1;HaplotypeScore=2.7293;MQ=59.43;MQ0=0;MQRankSum=0.571;QD=13.57;ReadPosRankSum=0.171;VQSLOD=5.9818;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,61:106:99:1469,0,1190 19 4442999 4442999 T G exonic CHAF1A nonsynonymous SNV CHAF1A:NM_005483:exon15:c.T2848G:p.S950A 0.97 0.98 0.99 0.95 0.97 0.96 0.9809 0.9842 0.9912 0.9680 0.9958 0.9833 0.9740 0.9638 0.98 0.99 0.98 0.98 0.67 rs243383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9809 0.9849 0.9873 0.9945 0.9645 0.9966 0.9815 0.9805 0.9627 0.9853 0.9861 0.9869 0.9967 0.9536 0.9974 0.9852 0.9857 hom 325.85 13 19 4442999 . T G 325.85 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.54;MQ0=0;QD=25.07;VQSLOD=7.4781;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:27.08:359,27,0 19 4454083 4454083 C T exonic UBXN6 nonsynonymous SNV UBXN6:NM_025241:exon2:c.G91A:p.A31T 0.17 0.09 0.32 0.065 0.26 0.17 0.2215 0.1187 0.2413 0.0542 0.1829 0.2630 0.2402 0.2044 0.22 0.12 0.27 0.076 0.15 rs1127888 . . . . . . . . . . . . . 0.316 0.137 T 0.001 0.067 B 0.003 0.080 B 0.970 0.078 N 0.977 0.810 P 1.375 0.344 L 0.95 0.433 T -0.21 0.103 N 0.016 0.003 -0.985 0.339 T 0.000 0.000 T . . . 1.232 0.213 11.91 0.978 0.355 0.556 0.297 D c -0.613 -0.547 1.000 0.480 0.707 0.730 0 1.96 0.251 0.642 0.242 -0.345 0.071 0.999 0.424 0.030 0.147 6.926 0.234 . ENSG00000267255.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267255.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167671.7|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267255.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167671.7|ENSG00000167670.11|ENSG00000267769.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267255.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267255.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167671.7|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267255.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000267769.1|ENSG00000167671.7|ENSG00000167670.11|ENSG00000267980.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167671.7|ENSG00000167670.11|ENSG00000167670.11|ENSG00000267769.1|ENSG00000267255.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167671.7|ENSG00000267769.1|ENSG00000167671.7|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167671.7|ENSG00000167670.11|ENSG00000267980.1|ENSG00000267255.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000267255.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167671.7|ENSG00000267255.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167671.7|ENSG00000267769.1|ENSG00000267980.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000267769.1|ENSG00000267255.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267255.1|ENSG00000167670.11|ENSG00000267769.1|ENSG00000267769.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267011.1|ENSG00000267769.1|ENSG00000167671.7|ENSG00000167670.11|ENSG00000267769.1|ENSG00000167671.7|ENSG00000267769.1|ENSG00000267769.1|ENSG00000167670.11|ENSG00000267769.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood 0.2205 0.1153 0.2465 0.2332 0.0572 0.1788 0.2683 0.2394 0.1997 0.1985 0.1156 0.2255 0.17 0.0698 0.1860 0.2625 0.2023 het 834.43 97 19 4454083 . C T 834.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.972;DP=97;Dels=0.00;FS=4.996;HRun=0;HaplotypeScore=5.1692;MQ=59.24;MQ0=0;MQRankSum=-0.196;QD=8.60;ReadPosRankSum=-0.766;VQSLOD=3.6440;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,35:97:99:864,0,1574 19 4457650 4457650 C T exonic UBXN6 synonymous SNV UBXN6:NM_025241:exon1:c.G45A:p.K15K 0.41 0.34 0.43 0.62 0.28 0.4 0.3602 0.3464 0.5644 0.6176 0.3592 0.2912 0.3329 0.3629 0.3 0.33 0.28 . 0.23 rs1044510 COSM1750878 1(urinary_tract);1(skin);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3547 0.3174 0.5370 0.3425 0.5963 0.3330 0.2740 0.3411 0.3483 0.3175 0.3230 0.5025 0.3664 0.5834 0.3352 0.2677 0.3407 het 551.30 39 19 4457650 . C T 551.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.818;DP=39;Dels=0.00;FS=1.471;HRun=2;HaplotypeScore=0.9332;MQ=59.41;MQ0=0;MQRankSum=0.577;QD=14.14;ReadPosRankSum=-1.907;VQSLOD=6.2082;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,22:39:99:581,0,373 19 4493708 4493708 A G exonic HDGFL2 synonymous SNV HDGFL2:NM_001001520:exon7:c.A687G:p.P229P,HDGFL2:NM_001348169:exon7:c.A759G:p.P253P,HDGFL2:NM_032631:exon7:c.A687G:p.P229P 0.58 0.67 0.65 0.42 0.62 0.54 0.6431 0.6755 0.6702 0.4797 0.6762 0.6430 0.6064 0.6642 0.64 0.68 0.63 0.52 0.2 rs892161 COSM439749 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6049 0.6738 0.6320 0.6109 0.4194 0.5990 0.6264 0.5862 0.5935 0.6171 0.6634 0.5813 0.5894 0.4556 0.5815 0.6209 0.5780 het 205.88 15 19 4493708 . A G 205.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.893;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.03;MQ0=0;MQRankSum=0.979;QD=13.73;ReadPosRankSum=1.110;VQSLOD=6.5959;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,11:15:62.45:236,0,62 19 4508945 4508945 A G exonic PLIN4 synonymous SNV PLIN4:NM_001080400:exon4:c.T3495C:p.P1165P 1. 1. 1. 1. 1. 1. 0.9975 0.9997 0.9996 1 0.9997 0.9979 0.9989 0.9914 1. 1. 1. 0.97 . rs8105775 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9976 0.9997 0.9995 1 1 0.9998 0.9977 0.9985 0.9903 0.9991 0.9995 0.9988 1 1 1 0.9985 1 hom 1388.25 47 19 4508945 . A G 1388.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.585;DP=47;Dels=0.00;FS=3.297;HRun=2;HaplotypeScore=0.8321;MQ=58.49;MQ0=0;MQRankSum=-0.774;QD=29.54;ReadPosRankSum=-0.700;VQSLOD=4.1911;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,46:47:94.67:1421,95,0 19 4510560 4510560 C T exonic PLIN4 nonsynonymous SNV PLIN4:NM_001080400:exon3:c.G3370A:p.A1124T 0.35 0.27 0.3 0.56 0.31 0.34 0.3540 0.2933 0.3438 0.5423 0.3945 0.3369 0.3386 0.3414 0.3 0.28 0.3 0.25 . rs7251858 . . . . . . . . . . . . . 0.221 0.189 T 0.9 0.476 P 0.452 0.444 P 0.077 0.211 N 1 0.090 P 1.7 0.440 L 2.84 0.107 T -1.62 0.389 N 0.097 0.098 -0.996 0.311 T 0.000 0.000 T . . . 2.291 0.337 18.11 0.997 0.826 0.037 0.088 N c -0.564 -0.726 0.000 0.056 0.583 0.331 0 1.51 0.220 0.436 0.211 0.751 0.309 0.003 0.159 0.004 0.083 3.856 0.084 . . . 0.3458 0.2857 0.3346 0.2610 0.5374 0.3933 0.3228 0.3471 0.3204 0.3339 0.2956 0.3585 0.2384 0.5068 0.3913 0.3223 0.3714 hom 805.23 27 19 4510560 . C T 805.23 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.61;MQ0=0;QD=29.82;VQSLOD=8.9106;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:69.20:838,69,0 19 4512669 4512669 T C exonic PLIN4 nonsynonymous SNV PLIN4:NM_001080400:exon3:c.A1261G:p.T421A 0.45 0.12 0.47 0.72 0.57 0.51 0.5265 0.2148 0.4609 0.6838 0.5907 0.5596 0.5622 0.4957 0.43 0.21 0.54 0.4 . rs55901236 COSM4415247;COSM4415248 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.284 0.153 T 0.009 0.139 B 0.008 0.127 B 0.002 0.387 N 1 0.090 P 1.375 0.344 L 2.45 0.150 T -1.59 0.383 N 0.034 0.014 -1.028 0.210 T 0.000 0.000 T . . . -0.833 0.039 0.036 0.791 0.122 0.021 0.062 N c -0.983 -1.048 0.000 0.050 0.583 0.331 0 0.087 0.137 -0.915 0.041 0.872 0.381 0.000 0.063 0.013 0.120 8.645 0.330 . . . 0.5289 0.2103 0.4710 0.6105 0.6802 0.5818 0.5542 0.5441 0.4979 0.4692 0.2285 0.4725 0.5709 0.6694 0.5579 0.5157 0.5479 hom 6952.64 226 19 4512669 . T C 6952.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.620;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9420;MQ=59.47;MQ0=0;MQRankSum=0.180;QD=30.76;ReadPosRankSum=0.104;VQSLOD=7.1107;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,224:226:99:6906,554,0 19 4513559 4513559 A G exonic PLIN4 nonsynonymous SNV PLIN4:NM_001080400:exon3:c.T371C:p.V124A 0.96 1. 0.97 0.98 0.96 0.9 0.9546 0.9912 0.9835 0.9797 0.9497 0.9551 0.9486 0.9021 0.97 0.99 0.95 0.99 . rs4807597 . . . . . . . . . . . . . 0.837 0.028 T 0.0 0.026 B 0.002 0.063 B 0.478 0.122 N 1 0.090 P -1.085 0.010 N 2.35 0.162 T 0.98 0.015 N 0.037 0.017 -0.994 0.315 T 0.000 0.000 T . . . -1.029 0.031 0.014 0.231 0.010 0.001 0.006 N c -1.736 -1.614 0.000 0.065 0.583 0.331 0 3.22 0.359 -0.724 0.050 -1.205 0.016 0.000 0.063 0.015 0.124 9.954 0.406 . . . 0.9544 0.9924 0.9807 0.9661 0.9789 0.9453 0.9529 0.9674 0.8999 0.9636 0.9939 0.9833 0.9503 0.9802 0.9469 0.9479 0.9532 hom 1206.83 35 19 4513559 . A G 1206.83 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9897;MQ=58.07;MQ0=0;QD=34.48;VQSLOD=7.0696;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:99:1240,102,0 19 4558431 4558431 C G exonic SEMA6B synonymous SNV SEMA6B:NM_032108:exon2:c.G39C:p.L13L 0.47 0.37 0.48 0.6 0.45 0.46 0.5782 0.4816 0.6101 0.6528 0.6159 0.5719 0.6136 0.5705 0.37 0.33 0.39 0.17 0.033 rs2304213 COSM439781 1(bone);1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4712 0.3824 0.5316 0.4534 0.6034 0.4533 0.4709 0.5 0.4801 0.4433 0.3766 0.4869 0.4073 0.5596 0.4607 0.4625 0.4610 het 69.32 10 19 4558431 . C G 69.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.16;MQ0=0;MQRankSum=1.036;QD=6.93;ReadPosRankSum=-1.036;VQSLOD=4.1675;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:99:99,0,175 19 4816719 4816719 G A exonic TICAM1 synonymous SNV TICAM1:NM_182919:exon2:c.C1671T:p.D557D 0.28 0.16 0.33 0.43 0.27 0.25 0.2688 0.1703 0.3512 0.4225 0.3540 0.2436 0.2892 0.2590 0.22 0.18 0.24 0.14 0.23 rs2292151 COSM3764756 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(central_nervous_system);1(biliary_tract) Benign not_specified RCV000455259.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2741 0.1648 0.3414 0.2348 0.4162 0.3585 0.2382 0.2720 0.2578 0.2472 0.1732 0.3409 0.2020 0.3991 0.3470 0.2434 0.2904 het 1294.19 111 19 4816719 . G A 1294.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.119;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.40;MQ0=0;MQRankSum=-0.240;QD=11.66;ReadPosRankSum=0.313;VQSLOD=6.7911;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,50:111:99:1324,0,1568 19 4818378 4818378 T C exonic TICAM1 synonymous SNV TICAM1:NM_182919:exon2:c.A12G:p.T4T 0.73 0.97 0.67 0.59 0.62 0.68 0.6652 0.9267 0.6601 0.5743 0.6489 0.6310 0.6840 0.7079 0.73 0.92 0.63 0.72 0.59 rs7255265 . . Benign not_specified RCV000455017.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6588 0.9280 0.6579 0.6594 0.5716 0.6497 0.6270 0.6512 0.6979 0.7081 0.9261 0.6483 0.6733 0.5828 0.6542 0.6147 0.6574 hom 2055.31 73 19 4818378 . T C 2055.31 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7543;MQ=59.43;MQ0=0;QD=28.15;VQSLOD=7.9685;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2088,177,0 19 4847713 4847713 A G exonic PLIN3 nonsynonymous SNV PLIN3:NM_001164189:exon6:c.T824C:p.V275A,PLIN3:NM_001164194:exon6:c.T788C:p.V263A,PLIN3:NM_005817:exon6:c.T824C:p.V275A 0.9 0.91 0.93 0.89 0.88 0.87 0.8666 0.9058 0.9403 0.8996 0.8526 0.8502 0.8627 0.8483 0.87 0.91 0.85 0.86 0.6 rs9973235 . . . . . . . . . . . . . 0.511 0.075 T 0.0 0.026 B 0.0 0.013 B 0.271 0.151 U 1 0.090 P -1.39 0.006 N 2.34 0.164 T 0.22 0.047 N 0.023 0.006 -1.058 0.122 T 0.000 0.000 T . . . 1.065 0.196 11.02 0.879 0.170 0.033 0.083 N c -0.830 -0.717 1.000 0.467 0.707 0.730 0 2.18 0.267 3.465 0.526 -0.799 0.032 0.993 0.376 0.002 0.062 5.595 0.165 . . . 0.8707 0.9055 0.9398 0.8599 0.9066 0.8559 0.8486 0.8793 0.8484 0.8764 0.9083 0.9248 0.8940 0.9145 0.8606 0.8551 0.8630 het 261.50 36 19 4847713 . A G 261.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.507;DP=36;Dels=0.00;FS=1.614;HRun=2;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;MQRankSum=2.026;QD=7.26;ReadPosRankSum=-0.652;VQSLOD=4.5639;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,11:36:99:291,0,642 19 4847874 4847874 A G exonic PLIN3 synonymous SNV PLIN3:NM_001164189:exon6:c.T663C:p.F221F,PLIN3:NM_001164194:exon6:c.T627C:p.F209F,PLIN3:NM_005817:exon6:c.T663C:p.F221F 0.87 0.85 0.92 0.89 0.87 0.82 0.8581 0.8577 0.9421 0.9071 0.8386 0.8484 0.8539 0.8208 0.85 0.87 0.85 0.86 0.7 rs9304915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8605 0.8568 0.9363 0.8625 0.9086 0.8323 0.8469 0.8679 0.8202 0.8520 0.8601 0.9139 0.8940 0.9154 0.8331 0.8416 0.8371 het 643.43 60 19 4847874 . A G 643.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.611;DP=60;Dels=0.00;FS=8.369;HRun=0;HaplotypeScore=0.5784;MQ=59.06;MQ0=0;MQRankSum=-1.366;QD=10.72;ReadPosRankSum=0.143;VQSLOD=4.0638;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,24:60:99:673,0,956 19 4852106 4852106 A G exonic PLIN3 synonymous SNV PLIN3:NM_001164189:exon5:c.T556C:p.L186L,PLIN3:NM_001164194:exon5:c.T520C:p.L174L,PLIN3:NM_005817:exon5:c.T556C:p.L186L 0.88 0.86 0.92 0.89 0.88 0.86 0.8686 0.8671 0.9447 0.9072 0.8648 0.8554 0.8714 0.8508 0.86 0.88 0.85 0.87 0.76 rs2271058 COSM1162401 1(pancreas);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8708 0.8653 0.9390 0.8635 0.9093 0.8605 0.8529 0.8796 0.8502 0.8632 0.8685 0.9177 0.8940 0.9147 0.8598 0.8521 0.8579 het 1142.59 75 19 4852106 . A G 1142.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.094;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9768;MQ=58.76;MQ0=0;MQRankSum=-0.155;QD=15.23;ReadPosRankSum=-2.383;VQSLOD=5.0952;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,43:75:99:1173,0,899 19 4852137 4852137 C T exonic PLIN3 synonymous SNV PLIN3:NM_001164189:exon5:c.G525A:p.S175S,PLIN3:NM_001164194:exon5:c.G489A:p.S163S,PLIN3:NM_005817:exon5:c.G525A:p.S175S 0.48 0.43 0.52 0.48 0.47 0.53 0.4706 0.4219 0.6012 0.4955 0.5261 0.4289 0.4989 0.5413 0.43 0.42 0.43 0.47 0.38 rs1055919 COSM1394221 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4796 0.4230 0.5912 0.4499 0.4995 0.5205 0.4278 0.4760 0.5433 0.4572 0.4274 0.5564 0.49 0.5056 0.5226 0.4468 0.4724 het 1155.85 77 19 4852137 . C T 1155.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.803;DP=77;Dels=0.00;FS=0.897;HRun=0;HaplotypeScore=2.5583;MQ=59.10;MQ0=0;MQRankSum=-0.597;QD=15.01;ReadPosRankSum=0.398;VQSLOD=6.3668;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,43:77:99:1186,0,891 19 4859937 4859937 T C exonic PLIN3 nonsynonymous SNV PLIN3:NM_001164189:exon3:c.A166G:p.I56V,PLIN3:NM_001164194:exon3:c.A166G:p.I56V,PLIN3:NM_005817:exon3:c.A166G:p.I56V 0.63 0.64 0.63 0.51 0.66 0.72 0.6795 0.6685 0.5741 0.4994 0.5876 0.7241 0.6530 0.7118 0.71 0.67 0.73 0.59 0.76 rs8289 . . . . . . . . . . . . . 0.828 0.029 T 0.0 0.026 B 0.0 0.013 B 0.009 0.307 N 1 0.090 P -1.75 0.003 N 3.58 0.046 T -0.16 0.095 N 0.018 0.003 -1.070 0.094 T 0.000 0.000 T . . . -2.487 0.003 0.001 0.209 0.008 0.009 0.036 N c -1.530 -1.436 0.392 0.200 0.707 0.730 0 1.26 0.204 -0.833 0.045 0.058 0.164 0.000 0.063 0.002 0.062 5.088 0.139 . ENSG00000105355.4|ENSG00000267484.1|ENSG00000105355.4 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.6690 0.6706 0.5693 0.6788 0.4913 0.5887 0.7308 0.6521 0.7102 0.6680 0.6698 0.5931 0.6722 0.4819 0.5920 0.7089 0.6636 hom 1578.25 55 19 4859937 . T C 1578.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.136;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=2.360;QD=28.70;ReadPosRankSum=-1.371;VQSLOD=7.2364;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,53:55:94.08:1611,94,0 19 4902754 4902754 G A exonic ARRDC5 synonymous SNV ARRDC5:NM_001080523:exon1:c.C126T:p.I42I 0.13 0.059 0.17 . 0.32 0.14 0.2515 0.0944 0.1246 0.0013 0.2922 0.3462 0.2394 0.1666 0.26 0.1 0.34 0.16 . rs2779168 COSM3757007 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2507 0.0943 0.1396 0.3736 0.0011 0.3011 0.3453 0.2624 0.1680 0.2410 0.1008 0.1687 0.3808 0.0019 0.2894 0.3368 0.2669 het 2298.35 187 19 4902754 . G A 2298.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.148;DP=187;Dels=0.00;FS=1.147;HRun=2;HaplotypeScore=5.4427;MQ=59.68;MQ0=0;MQRankSum=0.093;QD=12.29;ReadPosRankSum=-1.649;VQSLOD=4.4903;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,89:187:99:2328,0,2452 19 4910889 4910889 G T exonic UHRF1 unknown UNKNOWN 0.32 0.48 0.27 0.12 0.3 0.36 0.3318 0.4746 0.3041 0.1039 0.2618 0.3397 0.3231 0.3861 0.38 0.46 0.34 0.38 . rs2261988 COSM4000811 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.04 0.020 -0.914 0.464 T 0.000 0.000 T . . . 1.150 0.205 11.48 0.928 0.217 0.271 0.230 N c 0.002 -0.338 1.000 0.747 0.123 0.025 0 -1.37 0.085 -0.106 0.108 -0.508 0.051 0.000 0.063 0.048 0.163 6.743 0.225 . ENSG00000205784.2 Whole_Blood 0.3234 0.4779 0.2907 0.4701 0.1015 0.2640 0.3319 0.3287 0.3734 0.3571 0.4716 0.3222 0.4901 0.1139 0.2496 0.3444 0.3060 het 1179.94 108 19 4910889 . G T 1179.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.086;DP=108;Dels=0.00;FS=5.329;HRun=0;HaplotypeScore=0.6651;MQ=59.22;MQ0=0;MQRankSum=0.836;QD=10.93;ReadPosRankSum=-1.745;VQSLOD=5.4068;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,45:108:99:1210,0,1500 19 4910924 4910924 C T exonic UHRF1 unknown UNKNOWN 0.32 0.48 0.27 0.12 0.3 0.36 0.3311 0.4737 0.3039 0.1038 0.2623 0.3401 0.3237 0.3758 0.38 0.47 0.34 0.38 . rs2261986 COSM4000812 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3273 0.4803 0.2957 0.4770 0.1036 0.2654 0.3352 0.3322 0.3780 0.3569 0.4710 0.3237 0.4901 0.1140 0.2494 0.3443 0.3060 het 1393.37 128 19 4910924 . C T 1393.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.673;DP=128;Dels=0.00;FS=11.340;HRun=0;HaplotypeScore=1.9984;MQ=58.54;MQ0=0;MQRankSum=-1.770;QD=10.89;ReadPosRankSum=-0.065;VQSLOD=3.2464;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1423,0,1899 19 4945914 4945914 A C exonic UHRF1 unknown UNKNOWN 0.66 0.69 0.58 0.68 0.61 0.7 0.5734 0.6051 0.5613 0.6297 0.5838 0.5350 0.5984 0.6886 0.53 0.57 0.51 0.55 . rs2250982 COSM3766399 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5925 0.6369 0.5912 0.5957 0.6680 0.6128 0.5417 0.5914 0.7007 0.5991 0.6730 0.5920 0.5705 0.6755 0.6194 0.5438 0.6017 hom 508.89 21 19 4945914 . A C 508.89 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=55.22;MQ0=0;QD=24.23;VQSLOD=3.1215;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:45.11:542,45,0 19 4945917 4945917 C T exonic UHRF1 unknown UNKNOWN 0.55 0.65 0.42 0.67 0.38 0.54 0.3955 0.5377 0.4445 0.6190 0.4004 0.3161 0.3958 0.5004 0.31 0.43 0.26 0.48 . rs2250981 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4164 0.5758 0.4639 0.3654 0.6541 0.4364 0.3208 0.3867 0.5161 0.4561 0.6146 0.4600 0.3667 0.6580 0.4434 0.3484 0.4290 hom 476.25 22 19 4945917 . C T 476.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.946;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=55.45;MQ0=0;MQRankSum=1.103;QD=21.65;ReadPosRankSum=-1.734;VQSLOD=2.6262;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,21:22:12.64:509,13,0 19 4945974 4945974 T C exonic UHRF1 unknown UNKNOWN 0.96 0.94 0.98 1. 0.95 0.93 0.9536 0.9465 0.9703 0.9997 0.9750 0.9516 0.9338 0.9227 0.95 0.94 0.95 0.91 . rs2250978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9523 0.9429 0.9663 0.9004 0.9996 0.9724 0.9525 0.9448 0.9178 0.9515 0.9414 0.9656 0.8673 1 0.9702 0.9484 0.9492 hom 347.85 13 19 4945974 . T C 347.85 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.22;MQ0=0;QD=26.76;VQSLOD=8.0834;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:36.07:381,36,0 19 4954679 4954679 - C exonic UHRF1 unknown UNKNOWN . . . . . . 0.9988 0.9999 0.9999 0.9999 0.9990 0.9980 1 0.9999 1. 1. 1. 0.4 . rs55946225 COSM1394330 5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9999 0.9999 1 0.9999 0.9976 0.9985 0.9981 1.0000 0.9989 0.9999 1 1 1 0.9954 0.9989 1 hom 533.64 13 19 4954679 . G GC 533.64 Mask AC=2;AF=1.00;AN=2;DP=13;FS=0.000;HRun=1;HaplotypeScore=24.3986;MQ=43.18;MQ0=1;QD=31.39;set=variant2 GT:AD:DP:GQ:PL 1/1:1,16:13:39.13:576,39,0 19 5041178 5041178 T C exonic KDM4B synonymous SNV KDM4B:NM_015015:exon5:c.T348C:p.D116D 0.88 0.99 0.78 0.76 0.91 0.9 0.8791 0.9749 0.7228 0.7348 0.9132 0.9084 0.8822 0.8714 0.93 0.97 0.9 0.89 0.91 rs2240678 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8711 0.9775 0.7356 0.8962 0.7396 0.9112 0.9078 0.8841 0.8666 0.9200 0.9768 0.7691 0.9205 0.7339 0.9224 0.9155 0.9110 het 2640.94 212 19 5041178 . T C 2640.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.118;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.78;MQ0=0;MQRankSum=-0.024;QD=12.46;ReadPosRankSum=-0.559;VQSLOD=7.0095;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:108,104:212:99:2671,0,2796 19 5110794 5110794 A G exonic KDM4B synonymous SNV KDM4B:NM_015015:exon10:c.A1080G:p.A360A 0.63 0.68 0.57 0.67 0.57 0.65 0.6063 0.6630 0.6120 0.6579 0.6302 0.5838 0.6026 0.6190 0.58 0.64 0.55 0.58 0.41 rs2613739 COSM3757071;COSM3757070 1(oesophagus);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5696 0.6388 0.5700 0.4301 0.6304 0.5847 0.5526 0.5647 0.5960 0.5855 0.6379 0.5825 0.4371 0.6278 0.5978 0.5507 0.5859 het 311.64 27 19 5110794 . A G 311.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.561;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.195;QD=11.54;ReadPosRankSum=-0.415;VQSLOD=10.4726;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:342,0,406 19 5135392 5135392 A G exonic KDM4B nonsynonymous SNV KDM4B:NM_015015:exon15:c.A2128G:p.K710E 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 1. 1. rs2620836 COSM4590120 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 2252.40 76 19 5135392 . A G 2252.40 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=29.64;VQSLOD=8.8893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2285,178,0 19 5214697 5214697 A G exonic PTPRS nonsynonymous SNV PTPRS:NM_130853:exon20:c.T3028C:p.C1010R,PTPRS:NM_130855:exon21:c.T3040C:p.C1014R,PTPRS:NM_130854:exon24:c.T4255C:p.C1419R,PTPRS:NM_002850:exon29:c.T4369C:p.C1457R 1. 1. 1. 1. 1. 1. 0.9992 0.9993 0.9998 1 1 0.9990 1 0.9991 1. 1. 1. 1. 1. rs4807697 . . . . . . . . . . . . . 0.338 0.136 T 0.0 0.067 B 0.001 0.040 B 0.001 0.434 N 0.633 0.342 P -1.725 0.003 N -1.61 0.823 D 5.33 0.000 N 0.035 0.052 -0.973 0.366 T 0.000 0.000 T . . . 0.640 0.155 8.426 0.594 0.061 0.558 0.297 D c -1.076 -0.884 0.197 0.181 0.706 0.609 0 0.736 0.174 3.183 0.504 0.041 0.156 1.000 0.715 0.977 0.480 5.801 0.176 Fibronectin type III|Immunoglobulin-like fold;PTP type protein phosphatase|Protein-tyrosine phosphatase-like . . 0.9991 0.9994 0.9997 1 1 1.0000 0.9985 0.9991 0.9992 0.9988 0.9993 0.9964 1 1 0.9997 0.9981 1 hom 1587.96 53 19 5214697 . A G 1587.96 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.96;VQSLOD=14.0646;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1621,135,0 19 5610045 5610045 G A exonic SAFB2 synonymous SNV SAFB2:NM_014649:exon9:c.C1257T:p.R419R 0.012 0.0015 0.023 . 0.03 0.012 0.0254 0.0062 0.0123 0 0.0561 0.0333 0.0378 0.0156 0.021 0.0066 0.029 0.011 0.033 rs806706 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0253 0.0056 0.0137 0.0356 0 0.0489 0.0323 0.0263 0.0161 0.0255 0.0055 0.0119 0.0397 0 0.0427 0.0356 0.0356 het 536.81 55 19 5610045 . G A 536.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.499;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7645;MQ=58.29;MQ0=0;MQRankSum=1.851;QD=9.76;ReadPosRankSum=1.395;VQSLOD=5.1519;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,25:55:99:567,0,807 19 5696146 5696146 G A exonic LONP1 synonymous SNV LONP1:NM_001276480:exon13:c.C1344T:p.T448T,LONP1:NM_004793:exon13:c.C1932T:p.T644T,LONP1:NM_001276479:exon14:c.C1740T:p.T580T 0.2 0.27 0.26 0.091 0.24 0.14 0.2055 0.2540 0.1936 0.0894 0.1236 0.2415 0.1926 0.1343 0.24 0.25 0.24 0.21 0.15 rs3745624 COSM4132657 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2011 0.2512 0.1966 0.2400 0.0944 0.1211 0.2424 0.2214 0.1338 0.2114 0.2432 0.2053 0.2450 0.0996 0.1261 0.2258 0.1945 hom 2230.60 72 19 5696146 . G A 2230.60 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4303;MQ=58.44;MQ0=0;QD=30.98;VQSLOD=8.5759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2264,178,0 19 5844537 5844537 A G exonic FUT3 nonsynonymous SNV FUT3:NM_001097641:exon2:c.T314C:p.M105T,FUT3:NM_000149:exon3:c.T314C:p.M105T,FUT3:NM_001097639:exon3:c.T314C:p.M105T,FUT3:NM_001097640:exon3:c.T314C:p.M105T 0.89 0.9 0.87 0.97 0.82 0.88 0.8368 0.8871 0.9133 0.9735 0.8084 0.8021 0.7996 0.8339 0.84 0.89 0.81 0.94 0.82 rs778986 COSM4132684 1(pancreas);2(thyroid) . . . . . . . . . . . 0.038 0.427 D 0.0 0.026 B 0.0 0.013 B 0.001 0.416 D 1 0.090 P . . . 1.84 0.247 T 0.9 0.016 N 0.084 0.078 -1.087 0.061 T 0.000 0.000 T . . . 0.255 0.119 5.251 0.530 0.048 0.001 0.005 N c -1.314 -1.427 0.000 0.029 0.554 0.283 0 -0.403 0.117 -0.319 0.080 -0.394 0.063 0.000 0.063 0.000 0.016 4.236 0.100 Fucosyltransferase\x2c N-terminal . . 0.8386 0.8884 0.9020 0.7818 0.9722 0.7977 0.8076 0.8179 0.8339 0.8396 0.8889 0.8816 0.7318 0.9642 0.8071 0.8063 0.8166 hom 6047.95 198 19 5844537 . A G 6047.95 Mask AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.79;MQ0=0;QD=30.55;VQSLOD=9.4154;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,198:198:99:6047,496,0 19 5844649 5844649 G A exonic FUT3 nonsynonymous SNV FUT3:NM_001097641:exon2:c.C202T:p.R68W,FUT3:NM_000149:exon3:c.C202T:p.R68W,FUT3:NM_001097639:exon3:c.C202T:p.R68W,FUT3:NM_001097640:exon3:c.C202T:p.R68W 0.88 0.9 0.86 0.97 0.81 0.86 0.8277 0.8815 0.9058 0.9733 0.8009 0.7911 0.7903 0.8239 0.83 0.89 0.8 0.94 0.69 rs812936 COSM3766453 2(liver);2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.191 P . . . 2.55 0.138 T 13.54 0.000 N 0.125 0.141 -0.958 0.396 T 0.000 0.000 T . . . 0.562 0.148 7.888 0.603 0.063 0.019 0.057 N c -1.088 -1.055 0.000 0.035 0.516 0.203 0 2.33 0.279 4.038 0.568 -0.058 0.122 1.000 0.715 0.010 0.111 5.963 0.184 Fucosyltransferase\x2c N-terminal . . 0.8293 0.8827 0.8947 0.7521 0.9719 0.7895 0.7978 0.8063 0.8229 0.8336 0.8849 0.8692 0.7128 0.9634 0.7999 0.7997 0.8094 hom 2565.68 78 19 5844649 . G A 2565.68 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=32.89;VQSLOD=9.6335;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2599,217,0 19 6042059 6042059 C T exonic RFX2 nonsynonymous SNV RFX2:NM_000635:exon4:c.G256A:p.A86T,RFX2:NM_134433:exon4:c.G256A:p.A86T 0.23 0.11 0.22 0.22 0.28 0.34 0.2540 0.1279 0.2006 0.2594 0.1899 0.2809 0.2511 0.2852 0.23 0.13 0.27 0.24 0.2 rs2288846 . . . . . . . . . . . . . 0.613 0.064 T 0.002 0.102 B 0.012 0.179 B 0.001 0.408 D 0.028 0.389 P 0.405 0.124 N 1.57 0.293 T 0.0 0.070 N 0.035 0.045 -0.972 0.368 T 0.000 0.000 T . . . 1.748 0.271 14.68 0.988 0.458 0.737 0.358 D c -0.359 -0.161 0.164 0.176 0.615 0.372 0 4.37 0.517 2.305 0.431 0.013 0.140 1.000 0.715 0.835 0.348 10.274 0.425 RFX1 transcription activation region . . 0.2495 0.1258 0.1980 0.2836 0.2632 0.1854 0.2777 0.2825 0.2862 0.2201 0.1263 0.2184 0.2583 0.2528 0.1965 0.2746 0.2429 het 1568.55 135 19 6042059 . C T 1568.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.767;DP=135;Dels=0.00;FS=0.663;HRun=1;HaplotypeScore=3.3081;MQ=58.92;MQ0=0;MQRankSum=2.371;QD=11.62;ReadPosRankSum=1.286;VQSLOD=5.5146;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,63:135:99:1599,0,2019 19 6156483 6156483 T C exonic ACSBG2 nonsynonymous SNV ACSBG2:NM_001289177:exon5:c.T428C:p.V143A,ACSBG2:NM_001289178:exon5:c.T428C:p.V143A,ACSBG2:NM_001289179:exon5:c.T428C:p.V143A,ACSBG2:NM_001321384:exon5:c.T278C:p.V93A,ACSBG2:NM_030924:exon5:c.T428C:p.V143A 0.71 0.73 0.75 0.72 0.71 0.65 0.7088 0.7244 0.7860 0.6933 0.7934 0.6867 0.7230 0.7077 0.7 0.72 0.69 0.69 0.66 rs4807840 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.001 0.390 N 0.999 0.810 P -3.025 0.000 N 1.19 0.376 T . . . 0.043 0.023 -0.928 0.445 T 0.000 0.000 T . . . -0.149 0.080 1.391 0.195 0.007 0.106 0.159 N c -1.101 -0.775 0.921 0.266 0.487 0.133 0 5.9 0.949 5.582 0.670 0.069 0.176 1.000 0.715 0.100 0.189 13.144 0.587 AMP-dependent synthetase/ligase . . 0.7125 0.7203 0.7773 0.6744 0.6798 0.8015 0.6871 0.7028 0.7013 0.7124 0.7255 0.7458 0.7185 0.6980 0.7952 0.6853 0.7051 het 2381.11 184 19 6156483 . T C 2381.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.078;DP=184;Dels=0.00;FS=7.468;HRun=0;HaplotypeScore=5.4205;MQ=59.11;MQ0=0;MQRankSum=-1.623;QD=12.94;ReadPosRankSum=-0.203;VQSLOD=4.0660;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:98,86:184:99:2411,0,2662 19 6156510 6156510 A G exonic ACSBG2 nonsynonymous SNV ACSBG2:NM_001289177:exon5:c.A455G:p.K152R,ACSBG2:NM_001289178:exon5:c.A455G:p.K152R,ACSBG2:NM_001289179:exon5:c.A455G:p.K152R,ACSBG2:NM_001321384:exon5:c.A305G:p.K102R,ACSBG2:NM_030924:exon5:c.A455G:p.K152R 0.05 0.0068 0.068 . 0.13 0.059 0.1025 0.0236 0.0489 0 0.0863 0.1479 0.1057 0.0659 0.11 0.026 0.15 0.054 0.12 rs33937754 COSM5905087 1(skin) . . . . . . . . . . . . . . 0.002 0.112 B 0.02 0.203 B 0.019 0.273 N 0.995 0.810 P 1.335 0.334 L 2.84 0.107 T . . . 0.071 0.059 -1.020 0.237 T 0.000 0.000 T . . . 1.208 0.211 11.79 0.315 0.018 0.891 0.491 D c -0.212 0.021 0.055 0.150 0.487 0.133 0 5.9 0.949 3.729 0.545 1.199 0.960 1.000 0.715 0.972 0.466 14.284 0.656 AMP-dependent synthetase/ligase . . 0.0980 0.0196 0.0519 0.1391 0.0001 0.0819 0.1448 0.0951 0.0631 0.1011 0.0214 0.0609 0.1159 0 0.0828 0.1631 0.1245 het 2641.35 198 19 6156510 . A G 2641.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.579;DP=198;Dels=0.00;FS=4.981;HRun=0;HaplotypeScore=6.7005;MQ=59.24;MQ0=0;MQRankSum=-1.051;QD=13.34;ReadPosRankSum=-0.696;VQSLOD=4.1028;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,97:198:99:2671,0,2710 19 6312290 6312290 T C exonic ACER1 nonsynonymous SNV ACER1:NM_133492:exon3:c.A220G:p.M74V 0.16 0.011 0.14 0.32 0.13 0.24 0.1580 0.0312 0.1474 0.3163 0.2382 0.1316 0.1850 0.2354 0.095 0.036 0.13 0.13 0.09 rs72981971 COSM4997908 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.01 0.144 B 0.018 0.173 B 0.001 0.416 D 0.242 0.340 P 0.475 0.132 N 1.01 0.411 T -0.42 0.142 N 0.104 0.109 -0.937 0.432 T 0.000 0.000 T . . . -0.090 0.085 1.806 0.712 0.093 0.576 0.302 D c -0.462 -0.270 0.004 0.105 0.556 0.300 0 2.4 0.284 1.374 0.337 0.935 0.490 1.000 0.715 1.000 0.888 3.792 0.082 . . . 0.1578 0.0282 0.1366 0.0808 0.3078 0.2334 0.1300 0.1482 0.2339 0.1352 0.0310 0.1420 0.0927 0.3101 0.2374 0.1503 0.1888 het 2182.95 166 19 6312290 . T C 2182.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.686;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9925;MQ=59.50;MQ0=0;MQRankSum=0.784;QD=13.15;ReadPosRankSum=1.149;VQSLOD=6.2200;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,82:166:99:2213,0,2404 19 6374890 6374890 G A exonic ALKBH7 nonsynonymous SNV ALKBH7:NM_032306:exon4:c.G572A:p.R191Q 0.027 0.0038 0.027 0.001 0.088 0.022 0.0607 0.0186 0.0369 0 0.0814 0.0842 0.0564 0.0326 0.066 0.019 0.091 0.022 0.066 rs7540 . . . . . . . . . . . . . 0.509 0.075 T 0.275 0.302 B 0.033 0.210 B 0.001 0.390 N 0.539 0.314 P 1.32 0.331 L 0.89 0.456 T -0.84 0.229 N 0.063 0.048 -1.054 0.132 T 0.003 0.011 T . . . 2.290 0.336 18.10 0.942 0.239 0.722 0.351 D c -0.676 -0.605 1.000 0.747 0.732 0.924 0 3.03 0.339 1.413 0.341 -0.251 0.090 0.362 0.256 0.560 0.281 7.448 0.262 Alpha-ketoglutarate-dependent dioxygenase AlkB-like ENSG00000125651.9 Muscle_Skeletal 0.0591 0.0155 0.0355 0.0484 0 0.0753 0.0857 0.0741 0.0321 0.0576 0.0134 0.0406 0.0563 0.0006 0.0799 0.0848 0.0644 het 1473.16 106 19 6374890 . G A 1473.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.863;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4778;MQ=58.49;MQ0=0;MQRankSum=1.273;QD=13.90;ReadPosRankSum=-1.438;VQSLOD=4.5716;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,52:106:99:1503,0,1381 19 6375831 6375831 G A exonic PSPN synonymous SNV PSPN:NM_004158:exon1:c.C30T:p.S10S 0.44 0.87 0.2 0.39 0.18 0.34 0.2559 0.7807 0.1868 0.3859 0.1873 0.1640 0.2206 0.3034 0.36 0.76 0.16 0.37 0.19 rs2304198 COSM1397244 1(urinary_tract);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2399 0.7900 0.1879 0.1271 0.3853 0.1776 0.1634 0.2096 0.3057 0.3479 0.7805 0.2243 0.1291 0.3901 0.1737 0.1534 0.2099 het 388.65 30 19 6375831 . G A 388.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.640;DP=30;Dels=0.00;FS=3.333;HRun=0;HaplotypeScore=0.0000;MQ=56.38;MQ0=0;MQRankSum=1.891;QD=12.95;ReadPosRankSum=-0.520;VQSLOD=3.5447;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,16:30:99:419,0,388 19 6427408 6427408 G A exonic SLC25A41 synonymous SNV SLC25A41:NM_173637:exon5:c.C729T:p.R243R,SLC25A41:NM_001321298:exon6:c.C315T:p.R105R 0.077 0.003 0.084 0.14 0.096 0.083 0.1046 0.0215 0.0952 0.1696 0.1777 0.1066 0.1163 0.0856 0.07 0.022 0.095 0.076 . rs3760750 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0926 0.0163 0.0844 0.0617 0.1504 0.1468 0.0940 0.0851 0.0737 0.0809 0.0153 0.0955 0.0762 0.1481 0.1458 0.0945 0.1020 het 392.70 33 19 6427408 . G A 392.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.666;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=1.171;QD=11.90;ReadPosRankSum=0.234;VQSLOD=6.7780;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,16:33:99:423,0,444 19 6432213 6432213 T C exonic SLC25A41 synonymous SNV SLC25A41:NM_173637:exon2:c.A210G:p.V70V 0.0084 0.0008 0.0029 . 0.0099 0.03 0.0149 0.0023 0.0030 0 0.0113 0.0179 0.0124 0.0287 0.013 0.0017 0.018 . . rs61748927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0137 0.0021 0.0044 0.0304 0.0002 0.0095 0.0158 0.0137 0.0276 0.0099 0.0021 0.0048 0.0430 0 0.0109 0.0149 0.0122 het 695.36 49 19 6432213 . T C 695.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.323;DP=49;Dels=0.00;FS=1.271;HRun=0;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;MQRankSum=-0.798;QD=14.19;ReadPosRankSum=0.556;VQSLOD=5.6932;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,28:49:99:725,0,521 19 6444196 6444196 C G exonic SLC25A23 synonymous SNV SLC25A23:NM_024103:exon9:c.G1188C:p.P396P 0.012 0.0083 0.0029 . 0.0099 0.038 0.0263 0.0133 0.0078 0 0.0229 0.0296 0.0134 0.0419 0.015 0.0089 0.017 . 0.016 rs138598051 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0146 0.0090 0.0047 0.0308 0.0002 0.0089 0.0154 0.0142 0.0325 0.0121 0.0096 0.0048 0.0430 0 0.0103 0.0150 0.0122 het 146.80 10 19 6444196 . C G 146.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.214;DP=10;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.296;QD=14.68;ReadPosRankSum=0.296;VQSLOD=10.4916;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:79.27:177,0,79 19 6452423 6452423 C T exonic SLC25A23 nonsynonymous SNV SLC25A23:NM_024103:exon8:c.G971A:p.R324H 0.01 0.0008 0.0029 . 0.0099 0.038 0.0157 0.0024 0.0030 0.0001 0.0118 0.0183 0.0129 0.0322 0.013 0.0025 0.018 . 0.0082 rs61729423 COSM4726813;COSM4726812 1(large_intestine) . . . . . . . . . . . 0.066 0.408 T 0.003 0.102 B 0.005 0.104 B 0.002 0.380 N 0.686 0.810 D 0.605 0.157 N -1.29 0.795 T -1.92 0.446 N 0.131 0.238 -0.817 0.542 T 0.157 0.489 T . . . 5.111 0.689 25.3 0.997 0.771 0.447 0.271 N c -0.487 -0.387 0.000 0.029 0.732 0.924 0 -1.06 0.094 1.395 0.339 -0.023 0.128 1.000 0.715 0.271 0.232 9.681 0.390 Mitochondrial carrier domain . . 0.0143 0.0020 0.0044 0.0307 0.0002 0.0093 0.0158 0.0141 0.0319 0.0099 0.0021 0.0048 0.0464 0 0.0103 0.0149 0.0123 het 432.27 36 19 6452423 . C T 432.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.557;DP=36;Dels=0.00;FS=1.365;HRun=0;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;MQRankSum=-0.143;QD=12.01;ReadPosRankSum=-0.621;VQSLOD=5.8286;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,20:36:99:462,0,373 19 6454367 6454367 G A exonic SLC25A23 synonymous SNV SLC25A23:NM_024103:exon6:c.C762T:p.P254P 0.018 0.032 0.0043 . 0.0099 0.038 0.0175 0.0290 0.0038 0 0.0112 0.0177 0.0133 0.0311 0.022 0.029 0.018 . 0.0082 rs10402833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0161 0.0291 0.0056 0.0306 0.0002 0.0096 0.0157 0.0152 0.0317 0.0180 0.0308 0.0048 0.0464 0 0.0103 0.0146 0.0143 het 3152.48 216 19 6454367 . G A 3152.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.639;DP=216;DS;Dels=0.00;FS=1.068;HRun=0;HaplotypeScore=8.0080;MQ=59.40;MQ0=0;MQRankSum=-0.172;QD=14.59;ReadPosRankSum=0.872;VQSLOD=4.2406;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,116:216:99:3182,0,2642 19 6454651 6454651 T C exonic SLC25A23 synonymous SNV SLC25A23:NM_024103:exon5:c.A561G:p.K187K 0.18 0.6 0.058 . 0.027 0.068 0.0821 0.5313 0.0396 0 0.0335 0.0399 0.0667 0.0631 0.2 0.52 0.042 0.28 0.11 rs8103745 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0711 0.5423 0.0434 0.0576 0.0004 0.0278 0.0378 0.0638 0.0650 0.1756 0.5345 0.0537 0.0662 0 0.0301 0.0366 0.0624 het 1499.26 101 19 6454651 . T C 1499.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.607;DP=101;Dels=0.00;FS=2.688;HRun=0;HaplotypeScore=0.5784;MQ=59.63;MQ0=0;MQRankSum=-1.379;QD=14.84;ReadPosRankSum=0.460;VQSLOD=5.8479;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,54:101:99:1529,0,1230 19 6458240 6458240 G C exonic SLC25A23 synonymous SNV SLC25A23:NM_024103:exon2:c.C252G:p.L84L 0.046 0.012 0.026 0.046 0.055 0.099 0.0624 0.0268 0.0290 0.0676 0.0346 0.0680 0.0587 0.0939 0.052 0.027 0.065 0.043 0.074 rs2289784 COSM440583;COSM5452306 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0598 0.0251 0.0305 0.0913 0.0685 0.0327 0.0656 0.0668 0.0910 0.0464 0.0220 0.0346 0.0861 0.0741 0.0306 0.0597 0.0673 het 849.18 63 19 6458240 . G C 849.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.634;DP=63;Dels=0.00;FS=2.065;HRun=0;HaplotypeScore=0.8667;MQ=59.27;MQ0=0;MQRankSum=-0.831;QD=13.48;ReadPosRankSum=-0.267;VQSLOD=6.2438;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,31:63:99:879,0,822 19 6466482 6466482 A G exonic CRB3 synonymous SNV CRB3:NM_139161:exon4:c.A162G:p.P54P,CRB3:NM_174881:exon4:c.A162G:p.P54P,CRB3:NM_174882:exon4:c.A162G:p.P54P 0.42 0.62 0.31 0.19 0.52 0.38 0.4545 0.5853 0.2275 0.1861 0.3806 0.5321 0.4371 0.3888 0.56 0.57 0.55 0.4 0.55 rs348362 COSM4001037;COSM4001038 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4431 0.5855 0.2476 0.5307 0.1928 0.3779 0.5413 0.4771 0.3891 0.4987 0.5731 0.2763 0.5233 0.2020 0.3949 0.5241 0.4929 het 2888.71 246 19 6466482 . A G 2888.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.703;DP=246;DS;Dels=0.00;FS=2.159;HRun=1;HaplotypeScore=9.7350;MQ=59.22;MQ0=0;MQRankSum=-0.645;QD=11.74;ReadPosRankSum=-0.191;VQSLOD=4.2160;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,113:246:99:2919,0,3980 19 6477256 6477256 G T exonic DENND1C synonymous SNV DENND1C:NM_001290331:exon6:c.C354A:p.P118P,DENND1C:NM_024898:exon8:c.C486A:p.P162P 0.64 0.79 0.63 0.47 0.68 0.6 0.6459 0.7704 0.5140 0.4489 0.5626 0.6888 0.6180 0.6305 0.73 0.77 0.71 0.54 . rs348398 COSM3757391;COSM3757392 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6387 0.7733 0.5305 0.6567 0.4535 0.5615 0.6971 0.6403 0.6278 0.6755 0.7699 0.5359 0.6358 0.4535 0.5779 0.6800 0.6167 het 169.30 21 19 6477256 . G T 169.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.096;DP=21;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=1.9330;MQ=58.20;MQ0=0;MQRankSum=-0.249;QD=8.06;ReadPosRankSum=-1.244;VQSLOD=4.1529;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,9:21:99:199,0,341 19 6495736 6495736 A G exonic TUBB4A synonymous SNV TUBB4A:NM_001289130:exon4:c.T558C:p.V186V,TUBB4A:NM_001289131:exon4:c.T558C:p.V186V,TUBB4A:NM_006087:exon4:c.T774C:p.V258V,TUBB4A:NM_001289123:exon5:c.T927C:p.V309V,TUBB4A:NM_001289127:exon5:c.T909C:p.V303V,TUBB4A:NM_001289129:exon5:c.T774C:p.V258V 0.63 0.69 0.73 0.46 0.7 0.56 0.6680 0.6872 0.7415 0.4578 0.7659 0.7007 0.6715 0.5428 0.7 0.68 0.7 0.67 0.62 rs2071347 COSM4418210 1(haematopoietic_and_lymphoid_tissue) Benign|Benign Leukodystrophy\x2c_hypomyelinating\x2c_6|Dystonia RCV000285444.1|RCV000340366.1 MedGen:OMIM:Orphanet|MedGen C2676244:612438:ORPHA139441|C0393593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6735 0.6918 0.7414 0.6517 0.4504 0.7584 0.7064 0.6817 0.5400 0.7013 0.6947 0.7297 0.6391 0.4312 0.7788 0.7148 0.7172 hom 5733.37 167 19 6495736 . A G 5733.37 Mask AC=2;AF=1.00;AN=2;DP=167;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.5367;MQ=58.75;MQ0=0;QD=34.33;VQSLOD=9.3044;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5733,463,0 19 6586268 6586268 G A exonic CD70 synonymous SNV CD70:NM_001252:exon3:c.C345T:p.C115C,CD70:NM_001330332:exon3:c.C345T:p.C115C 0.35 0.19 0.25 0.68 0.3 0.36 0.3201 0.2070 0.1946 0.6912 0.3748 0.3016 0.3274 0.3379 0.26 0.21 0.29 0.24 0.29 rs1862511 COSM4132739 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3177 0.2024 0.2114 0.2529 0.6936 0.3801 0.2967 0.2875 0.3374 0.2883 0.1934 0.2279 0.2616 0.6958 0.3762 0.2822 0.2971 hom 2757.67 90 19 6586268 . G A 2757.67 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.74;MQ0=0;QD=30.64;VQSLOD=9.2638;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2791,232,0 19 6665020 6665020 T C exonic TNFSF14 nonsynonymous SNV TNFSF14:NM_172014:exon4:c.A532G:p.K178E,TNFSF14:NM_003807:exon5:c.A640G:p.K214E 0.96 0.99 0.93 0.94 0.95 0.96 0.9484 0.9833 0.9450 0.9208 0.9432 0.9440 0.9482 0.9631 0.96 0.98 0.94 0.95 0.9 rs344560 COSM4132740 1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.016 0.282 N 1.000 0.090 P -0.875 0.014 N -3.41 0.943 D . . . 0.043 0.112 -0.941 0.425 T 0.000 0.000 T . . . 0.194 0.113 4.615 0.300 0.016 0.010 0.037 N c -1.103 -0.958 0.982 0.302 0.428 0.059 0 2.32 0.278 0.057 0.140 0.014 0.141 0.001 0.137 0.324 0.241 8.467 0.319 Tumour necrosis factor domain|Tumour necrosis factor-like domain . . 0.9466 0.9855 0.9465 0.9104 0.9221 0.9421 0.9450 0.9418 0.9623 0.9520 0.9857 0.9570 0.9139 0.9129 0.9384 0.9408 0.9420 hom 6805.48 192 19 6665020 . T C 6805.48 Mask AC=2;AF=1.00;AN=2;DP=192;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4547;MQ=59.42;MQ0=0;QD=35.45;VQSLOD=8.5544;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,191:192:99:6772,539,0 19 6677989 6677989 G A exonic C3 synonymous SNV C3:NM_000064:exon41:c.C4896T:p.P1632P 0.53 0.5 0.5 0.55 0.51 0.61 0.5241 0.4924 0.5020 0.5431 0.4890 0.5169 0.5033 0.5937 0.51 0.5 0.52 0.43 0.36 rs17030 COSM3766459 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver);1(thyroid) Benign|Benign|Benign C3_deficiency|Macular_degeneration|Atypical_hemolytic_uremic_syndrome RCV000283840.1|RCV000323725.1|RCV000378258.1 MedGen|Human_Phenotype_Ontology:MedGen|MedGen:Orphanet C1332655|HP:0000608:C0024437|C2931788:ORPHA2134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5241 0.4937 0.5118 0.4623 0.5472 0.4975 0.5208 0.5128 0.5931 0.4971 0.4879 0.5371 0.4470 0.5481 0.4946 0.4966 0.4939 hom 4590.11 146 19 6677989 . G A 4590.11 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=31.44;VQSLOD=9.2379;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4590,355,0 19 6697406 6697406 A G exonic C3 synonymous SNV C3:NM_000064:exon21:c.T2745C:p.A915A 0.81 0.75 0.87 0.91 0.77 0.81 0.7889 0.7561 0.8969 0.9118 0.7595 0.7564 0.7963 0.8121 0.76 0.76 0.75 0.81 0.8 rs423490 . . Benign|Benign|Benign C3_deficiency|Atypical_hemolytic_uremic_syndrome|Macular_degeneration RCV000308367.1|RCV000342250.1|RCV000394673.1 MedGen|MedGen:Orphanet|Human_Phenotype_Ontology:MedGen C1332655|C2931788:ORPHA2134|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7960 0.7554 0.8932 0.7957 0.9120 0.7577 0.7575 0.8039 0.8111 0.7623 0.7606 0.8792 0.7914 0.9110 0.7539 0.7425 0.7541 hom 2794.13 92 19 6697406 . A G 2794.13 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=30.37;VQSLOD=9.3425;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2827,238,0 19 6702157 6702157 C G exonic C3 synonymous SNV C3:NM_000064:exon19:c.G2421C:p.V807V 0.73 0.71 0.77 0.85 0.63 0.72 0.6664 0.7012 0.8207 0.8375 0.5692 0.6109 0.6678 0.7099 0.65 0.7 0.62 0.72 0.67 rs428453 COSM3757394 1(large_intestine) Benign|Benign|Benign Atypical_hemolytic_uremic_syndrome|Macular_degeneration|C3_deficiency RCV000291985.1|RCV000344527.1|RCV000382623.1 MedGen:Orphanet|Human_Phenotype_Ontology:MedGen|MedGen C2931788:ORPHA2134|HP:0000608:C0024437|C1332655 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6723 0.7036 0.8114 0.5962 0.8381 0.5642 0.6182 0.6649 0.7094 0.6471 0.7081 0.7763 0.61 0.8327 0.5568 0.6078 0.6202 hom 2693.60 85 19 6702157 . C G 2693.60 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.32;MQ0=0;QD=31.69;VQSLOD=9.1422;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2727,208,0 19 6709848 6709848 C T exonic C3 synonymous SNV C3:NM_000064:exon14:c.G1692A:p.V564V 0.44 0.55 0.37 0.46 0.28 0.46 0.3520 0.5343 0.4068 0.4710 0.3184 0.2816 0.3097 0.4362 0.36 0.53 0.27 0.42 0.17 rs2230204 COSM4001040 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign C3_deficiency|Atypical_hemolytic_uremic_syndrome|Macular_degeneration RCV000303712.1|RCV000358237.1|RCV000395652.1 MedGen|MedGen:Orphanet|Human_Phenotype_Ontology:MedGen C1332655|C2931788:ORPHA2134|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3514 0.5356 0.3988 0.2961 0.4700 0.3145 0.2832 0.3179 0.4395 0.3635 0.5192 0.3864 0.3013 0.4479 0.3073 0.2800 0.3173 hom 2889.93 93 19 6709848 . C T 2889.93 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.07;VQSLOD=13.1962;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2923,247,0 19 6714374 6714374 C T exonic C3 synonymous SNV C3:NM_000064:exon5:c.G588A:p.P196P 0.0052 . 0.0058 . 0.008 0.014 0.0068 0.0014 0.0034 0 0.0008 0.0075 0.0111 0.0156 0.0058 0.0007 0.0084 0.011 . rs150007726 COSM5454791 1(large_intestine) Likely benign|Likely benign|Likely benign Macular_degeneration|C3_deficiency|Atypical_hemolytic_uremic_syndrome RCV000294782.1|RCV000345078.1|RCV000386072.1 Human_Phenotype_Ontology:MedGen|MedGen|MedGen:Orphanet HP:0000608:C0024437|C1332655|C2931788:ORPHA2134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0066 0.0015 0.0030 0.0080 0 0.0011 0.0077 0.0078 0.0161 0.0031 0.0006 0.0060 0.0099 0 0.0003 0.0052 0.0031 het 1154.07 87 19 6714374 . C T 1154.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.003;DP=87;Dels=0.00;FS=4.125;HRun=0;HaplotypeScore=2.2381;MQ=59.30;MQ0=0;MQRankSum=0.098;QD=13.27;ReadPosRankSum=-0.361;VQSLOD=4.6203;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,45:87:99:1184,0,1075 19 6731057 6731057 T C exonic GPR108 synonymous SNV GPR108:NM_001080452:exon17:c.A1500G:p.G500G 0.74 0.82 0.75 0.67 0.82 0.62 0.7550 0.8068 0.7097 0.6431 0.8104 0.7922 0.7848 0.6414 0.8 0.81 0.8 0.24 0.68 rs2279624 COSM5427915 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7543 0.8003 0.7138 0.8232 0.6382 0.8130 0.7902 0.7792 0.6415 0.7849 0.7979 0.7674 0.8167 0.6290 0.8171 0.7870 0.7848 het 1013.65 97 19 6731057 . T C 1013.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.395;DP=97;Dels=0.00;FS=1.733;HRun=2;HaplotypeScore=2.5787;MQ=58.58;MQ0=0;MQRankSum=0.106;QD=10.45;ReadPosRankSum=-1.169;VQSLOD=5.6806;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1044,0,1181 19 6737481 6737481 T C exonic GPR108 nonsynonymous SNV GPR108:NM_001080452:exon1:c.A107G:p.Q36R 0.89 0.84 0.92 0.99 0.89 0.81 0.8804 0.8601 0.9351 0.9788 0.9160 0.8754 0.8834 0.8098 0.89 0.88 0.89 0.77 0.33 rs340138 COSM3757397 2(thyroid);6(large_intestine) . . . . . . . . . . . 0.809 0.030 T 0.0 0.026 B 0.0 0.013 B 0.029 0.255 N 1 0.090 P -2.44 0.001 N 2.05 0.207 T 0.69 0.022 N 0.044 0.024 -0.973 0.366 T 0.000 0.000 T . . . 1.126 0.202 11.35 0.771 0.113 0.283 0.233 N c -0.914 -0.639 1.000 0.747 0.267 0.040 1 3.1 0.346 -0.072 0.114 0.016 0.142 0.857 0.303 0.992 0.562 5.359 0.153 . ENSG00000125734.9|ENSG00000125734.9|ENSG00000125734.9|ENSG00000125734.9|ENSG00000125734.9|ENSG00000125734.9|ENSG00000125734.9|ENSG00000125734.9|ENSG00000125734.9|ENSG00000125734.9 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8789 0.8533 0.9267 0.9081 0.9781 0.9033 0.8681 0.8824 0.8018 0.8789 0.8516 0.9284 0.91 0.9814 0.9021 0.8741 0.8907 het 138.95 12 19 6737481 . T C 138.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DP=12;Dels=0.00;FS=2.463;HRun=1;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=0.000;QD=11.58;ReadPosRankSum=0.259;VQSLOD=4.5913;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:169,0,135 19 6737509 6737509 G A exonic GPR108 synonymous SNV GPR108:NM_001080452:exon1:c.C79T:p.L27L 0.91 0.91 0.93 0.99 0.9 0.81 0.8855 0.9114 0.9382 0.9793 0.9149 0.8774 0.8916 0.8123 0.9 0.92 0.89 0.88 0.3 rs339401 COSM3749573 1(thyroid);10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8828 0.9075 0.9302 0.9087 0.9786 0.9041 0.8684 0.8846 0.8024 0.8925 0.9014 0.9308 0.9106 0.9815 0.9017 0.8732 0.8904 het 84.55 10 19 6737509 . G A 84.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.365;QD=8.45;ReadPosRankSum=-0.741;VQSLOD=6.2570;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:99:115,0,174 19 6850767 6850767 C T exonic VAV1 nonsynonymous SNV VAV1:NM_001258206:exon23:c.C2150T:p.T717M,VAV1:NM_001258207:exon23:c.C2120T:p.T707M,VAV1:NM_005428:exon24:c.C2216T:p.T739M 0.019 0.0015 0.017 0.004 0.059 0.017 0.0514 0.0113 0.0201 0.0009 0.1279 0.0698 0.0420 0.0204 0.049 0.013 0.067 0.022 0.09 rs36097961 . . . . . . . . . . . . . . . . 0.025 0.387 B 0.044 0.406 B 0.070 0.022 N 1.000 0.191 N 1.255 0.319 L -2.43 0.887 D . . . 0.026 0.074 -0.662 0.622 T 0.078 0.312 T . . . 1.765 0.273 14.78 0.876 0.168 0.007 0.030 N c -1.071 -1.143 0.002 0.092 0.707 0.730 0 -5.12 0.027 -1.317 0.028 0.077 0.185 0.000 0.063 0.989 0.536 10.404 0.432 SH2 domain . . 0.0529 0.0110 0.0225 0.0122 0.0006 0.1294 0.0737 0.0472 0.0193 0.0574 0.0140 0.0263 0.0265 0.0006 0.1408 0.0708 0.0716 het 1041.17 88 19 6850767 . C T 1041.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.983;DP=88;Dels=0.00;FS=1.780;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-0.263;QD=11.83;ReadPosRankSum=1.015;VQSLOD=6.1651;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,42:88:99:1071,0,1110 19 6896483 6896483 G A exonic ADGRE1 nonsynonymous SNV ADGRE1:NM_001256252:exon3:c.G169A:p.A57T,ADGRE1:NM_001256253:exon3:c.G169A:p.A57T,ADGRE1:NM_001256254:exon3:c.G169A:p.A57T,ADGRE1:NM_001256255:exon3:c.G169A:p.A57T,ADGRE1:NM_001974:exon3:c.G169A:p.A57T 0.34 0.39 0.39 0.34 0.27 0.3 0.3091 0.3750 0.3885 0.3605 0.1845 0.2872 0.2566 0.3262 0.32 0.36 0.29 0.43 0.29 rs330877 COSM3757398 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.039 T 0.0 0.067 B 0.0 0.040 B . . . 1 0.090 P -2.12 0.002 N -2.93 0.918 D 1.27 0.010 N 0.029 0.016 -1.097 0.044 T 0.000 0.000 T . . . -2.024 0.008 0.001 0.520 0.046 0.001 0.006 N c -2.254 -2.196 0.001 0.083 0.638 0.428 0 -3.26 0.047 -1.140 0.033 -1.797 0.007 0.000 0.063 0.000 0.016 4.400 0.107 EGF-like calcium-binding domain|EGF-like domain . . 0.3114 0.3728 0.3800 0.3907 0.3637 0.1838 0.2873 0.3139 0.3310 0.3018 0.3787 0.3508 0.4007 0.3879 0.1880 0.2727 0.2561 het 2612.58 181 19 6896483 . G A 2612.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.652;DP=181;DS;Dels=0.00;FS=0.613;HRun=0;HaplotypeScore=3.3853;MQ=58.56;MQ0=0;MQRankSum=-0.020;QD=14.43;ReadPosRankSum=-0.541;VQSLOD=5.9328;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,103:181:99:2643,0,1921 19 6897464 6897464 C G exonic;splicing ADGRE1;ADGRE1 NM_001256255:exon5:c.418+2C>G nonsynonymous SNV ADGRE1:NM_001256252:exon4:c.C264G:p.S88R,ADGRE1:NM_001256253:exon5:c.C420G:p.S140R,ADGRE1:NM_001974:exon5:c.C420G:p.S140R 0.5 0.83 0.45 0.48 0.27 0.35 0.3780 0.7583 0.4406 0.5127 0.2488 0.3022 0.3223 0.3814 0.45 0.73 0.31 0.65 0.32 rs330880 COSM3757399 1(large_intestine) . . . . . . . . . . . 0.632 0.112 T 0.0 0.067 B 0.001 0.121 B . . . 1 0.191 P 1.495 0.376 L -2.95 0.919 D -0.43 0.232 N 0.04 0.039 -0.968 0.377 T 0.000 0.000 T . . . -0.661 0.047 0.089 0.450 0.035 0.002 0.010 N c -1.406 -1.487 0.000 0.071 0.554 0.246 0 -3.22 0.048 -2.343 0.012 -0.038 0.125 0.000 0.063 0.001 0.043 5.443 0.157 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain ENSG00000174837.10|ENSG00000269385.1|ENSG00000174837.10 Esophagus_Mucosa|Whole_Blood|Whole_Blood 0.3692 0.7606 0.4332 0.3808 0.5093 0.2498 0.2992 0.3527 0.3604 0.4360 0.7504 0.4069 0.3907 0.5288 0.2484 0.2976 0.3157 het 959.11 71 19 6897464 . C G 959.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.056;DP=71;Dels=0.00;FS=2.017;HRun=1;HaplotypeScore=3.7129;MQ=58.87;MQ0=0;MQRankSum=-0.132;QD=13.51;ReadPosRankSum=0.800;VQSLOD=5.2902;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,34:71:99:989,0,1009 19 6901891 6901891 G A exonic ADGRE1 nonsynonymous SNV ADGRE1:NM_001256252:exon5:c.G364A:p.D122N,ADGRE1:NM_001256253:exon6:c.G520A:p.D174N,ADGRE1:NM_001974:exon6:c.G520A:p.D174N 0.43 0.67 0.42 0.46 0.24 0.3 0.3231 0.6068 0.4150 0.4802 0.2158 0.2589 0.2709 0.3029 0.37 0.59 0.26 0.54 0.19 rs897738 COSM3757400 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.435 0.113 T 0.004 0.190 B 0.006 0.205 B . . . 0.789 0.588 P 1.19 0.302 L -3.39 0.942 D -1.92 0.475 N 0.004 0.003 -0.926 0.448 T 0.000 0.000 T . . . -0.360 0.064 0.483 0.959 0.275 0.421 0.266 N c -0.985 -0.930 0.000 0.058 0.487 0.133 0 1.81 0.240 0.774 0.261 -0.087 0.118 0.997 0.399 0.023 0.138 7.092 0.243 EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain ENSG00000269385.1|ENSG00000174837.10 Whole_Blood|Whole_Blood 0.3203 0.6110 0.4031 0.3526 0.4785 0.2145 0.2540 0.3053 0.3065 0.3629 0.5995 0.3756 0.3576 0.4981 0.2156 0.2498 0.2802 het 4225.04 250 19 6901891 . G A 4225.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.078;DP=250;DS;Dels=0.00;FS=9.196;HRun=1;HaplotypeScore=1.8660;MQ=58.99;MQ0=0;MQRankSum=0.672;QD=16.90;ReadPosRankSum=-1.337;VQSLOD=4.1922;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,127:250:99:3562,0,3499 19 6903920 6903920 A G exonic ADGRE1 nonsynonymous SNV ADGRE1:NM_001256254:exon4:c.A338G:p.N113S,ADGRE1:NM_001256252:exon6:c.A605G:p.N202S,ADGRE1:NM_001256253:exon7:c.A761G:p.N254S,ADGRE1:NM_001974:exon7:c.A761G:p.N254S 0.43 0.67 0.42 0.46 0.24 0.3 0.3229 0.6067 0.4151 0.4796 0.2158 0.2589 0.2709 0.3022 0.37 0.59 0.26 0.59 0.24 rs443658 COSM3757401 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.893 0.053 T 0.304 0.715 B 0.068 0.807 B . . . 1 0.182 P 0.515 0.136 N -3.08 0.926 D -1.45 0.454 N 0.02 0.008 -0.903 0.477 T 0.000 0.000 T . . . -1.399 0.019 0.003 0.286 0.015 0.049 0.106 N c -1.042 -1.157 0.000 0.050 0.554 0.246 0 -0.148 0.127 -0.078 0.112 -0.091 0.117 0.000 0.063 0.105 0.191 5.798 0.175 Complement Clr-like EGF domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|Growth factor receptor cysteine-rich domain ENSG00000269385.1|ENSG00000174837.10 Whole_Blood|Whole_Blood 0.3202 0.6108 0.4030 0.3527 0.4766 0.2145 0.2540 0.3052 0.3059 0.3623 0.5994 0.3747 0.3576 0.4926 0.2158 0.2493 0.2786 het 1627.59 116 19 6903920 . A G 1627.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.222;DP=116;Dels=0.00;FS=8.942;HRun=0;HaplotypeScore=1.6281;MQ=59.76;MQ0=0;MQRankSum=1.184;QD=14.03;ReadPosRankSum=0.577;VQSLOD=4.6262;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,58:116:99:1658,0,1594 19 6904137 6904137 C T exonic ADGRE1 nonsynonymous SNV ADGRE1:NM_001256254:exon5:c.C470T:p.A157V,ADGRE1:NM_001256252:exon7:c.C737T:p.A246V,ADGRE1:NM_001256253:exon8:c.C893T:p.A298V,ADGRE1:NM_001974:exon8:c.C893T:p.A298V 0.43 0.67 0.42 0.46 0.24 0.3 0.3229 0.6068 0.4143 0.4787 0.2156 0.2590 0.2709 0.3022 0.37 0.59 0.26 0.59 0.24 rs370094 COSM5425473 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.163 0.259 T 0.001 0.067 B 0.0 0.112 B . . . 1 0.090 P 0.705 0.187 N -3.01 0.922 D -0.86 0.234 N 0.008 0.008 -1.044 0.162 T 0.000 0.000 T . . . -2.162 0.006 0.001 0.601 0.062 0.005 0.023 N c -2.131 -2.256 0.995 0.338 0.554 0.246 0 -7.78 0.011 -2.316 0.012 -3.059 0.001 0.000 0.063 0.000 0.016 3.682 0.078 Complement Clr-like EGF domain|EGF-like calcium-binding domain|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|EGF-like\x2c conserved site|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|EGF-like domain ENSG00000269385.1|ENSG00000174837.10 Whole_Blood|Whole_Blood 0.3201 0.6109 0.4026 0.3522 0.4766 0.2143 0.2541 0.3047 0.3060 0.3622 0.5990 0.3720 0.3576 0.4920 0.2158 0.25 0.2780 het 1265.99 129 19 6904137 . C T 1265.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.520;DP=129;Dels=0.00;FS=11.637;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;MQRankSum=-1.281;QD=9.81;ReadPosRankSum=-1.171;VQSLOD=3.6992;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,56:129:99:1296,0,2114 19 6913707 6913707 C T exonic ADGRE1 nonsynonymous SNV ADGRE1:NM_001256254:exon8:c.C743T:p.T248M,ADGRE1:NM_001256255:exon8:c.C635T:p.T212M,ADGRE1:NM_001256252:exon10:c.C1010T:p.T337M,ADGRE1:NM_001256253:exon11:c.C1166T:p.T389M,ADGRE1:NM_001974:exon11:c.C1166T:p.T389M 0.14 0.18 0.2 0.004 0.19 0.14 0.1817 0.1784 0.1807 0.0015 0.1323 0.2185 0.17 0.1501 0.2 0.17 0.22 0.18 0.2 rs466876 . . . . . . . . . . . . . 0.063 0.367 T 0.857 0.629 P 0.26 0.545 B . . . 1 0.090 P 1.975 0.537 M -1.17 0.804 T -2.63 0.576 D 0.031 0.260 -0.902 0.478 T 0.000 0.001 T . . . 1.858 0.284 15.33 0.846 0.149 0.011 0.041 N c -1.017 -1.309 0.930 0.270 0.554 0.246 0 -9.66 0.004 -0.390 0.073 -0.020 0.129 0.000 0.063 0.000 0.016 4.571 0.115 Complement Clr-like EGF domain|EGF-like calcium-binding domain|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|Growth factor receptor cysteine-rich domain . . 0.1784 0.1771 0.1746 0.2308 0.0013 0.1324 0.2179 0.2 0.1522 0.1842 0.1784 0.1615 0.2649 0.0006 0.1322 0.2193 0.1813 het 1577.08 136 19 6913707 . C T 1577.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.765;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=-0.474;QD=11.60;ReadPosRankSum=-0.474;VQSLOD=7.0813;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,59:136:99:1607,0,2151 19 6913811 6913811 A G exonic ADGRE1 nonsynonymous SNV ADGRE1:NM_001256254:exon8:c.A847G:p.I283V,ADGRE1:NM_001256255:exon8:c.A739G:p.I247V,ADGRE1:NM_001256252:exon10:c.A1114G:p.I372V,ADGRE1:NM_001256253:exon11:c.A1270G:p.I424V,ADGRE1:NM_001974:exon11:c.A1270G:p.I424V 0.71 0.57 0.77 0.77 0.74 0.75 0.7523 0.6056 0.7985 0.7687 0.7828 0.7597 0.7390 0.7625 0.71 0.6 0.76 0.75 0.75 rs457857 COSM5426225 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.077 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.24 0.008 N -1.11 0.775 T 0.6 0.027 N 0.013 0.003 -0.965 0.382 T 0.000 0.000 T . . . -1.801 0.011 0.002 0.187 0.006 0.001 0.008 N c -1.568 -1.511 0.000 0.056 0.554 0.246 0 -1.87 0.073 -1.424 0.025 -0.442 0.057 0.000 0.063 0.000 0.016 5.360 0.153 Complement Clr-like EGF domain|EGF-like calcium-binding domain|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain ENSG00000174837.10 Lung 0.7578 0.6065 0.7990 0.7307 0.7719 0.7846 0.7606 0.7428 0.7628 0.7190 0.6027 0.7888 0.7682 0.7931 0.7829 0.7553 0.7735 hom 7769.43 246 19 6913811 . A G 7769.43 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7603;MQ=59.13;MQ0=0;QD=31.58;VQSLOD=6.3133;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7769,590,0 19 6919624 6919624 A C exonic ADGRE1 nonsynonymous SNV ADGRE1:NM_001256254:exon10:c.A1063C:p.K355Q,ADGRE1:NM_001256255:exon10:c.A955C:p.K319Q,ADGRE1:NM_001256252:exon12:c.A1330C:p.K444Q,ADGRE1:NM_001256253:exon13:c.A1486C:p.K496Q,ADGRE1:NM_001974:exon13:c.A1486C:p.K496Q 0.73 0.59 0.8 0.79 0.76 0.76 0.7682 0.6090 0.8090 0.7859 0.8047 0.7793 0.75 0.7724 0.73 0.61 0.79 0.67 0.8 rs373533 COSM5425287 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.448 0.090 T 0.0 0.026 B 0.0 0.063 B . . . 1 0.090 P -0.97 0.012 N -1.23 0.789 T 1.21 0.013 N 0.042 0.061 -0.980 0.350 T 0.000 0.000 T . . . -1.126 0.027 0.009 0.094 0.001 0.001 0.006 N c -1.447 -1.396 0.000 0.029 0.554 0.246 0 0.497 0.160 -0.903 0.042 -0.056 0.122 0.000 0.063 0.054 0.167 1.990 0.032 . ENSG00000174837.10 Lung 0.7746 0.6030 0.8054 0.7643 0.7889 0.8069 0.7823 0.7512 0.7741 0.7360 0.6103 0.7852 0.7815 0.8174 0.8040 0.7776 0.7748 hom 5254.35 164 19 6919624 . A C 5254.35 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.15;MQ0=0;QD=32.04;VQSLOD=9.4113;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5254,403,0 19 6919753 6919753 A G exonic ADGRE1 nonsynonymous SNV ADGRE1:NM_001256254:exon10:c.A1192G:p.I398V,ADGRE1:NM_001256255:exon10:c.A1084G:p.I362V,ADGRE1:NM_001256252:exon12:c.A1459G:p.I487V,ADGRE1:NM_001256253:exon13:c.A1615G:p.I539V,ADGRE1:NM_001974:exon13:c.A1615G:p.I539V 0.72 0.59 0.8 0.78 0.76 0.74 0.7649 0.6078 0.8037 0.7838 0.8027 0.7773 0.7428 0.7624 0.73 0.61 0.79 0.66 0.8 rs461645 COSM5425288 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.806 0.049 T 0.002 0.126 B 0.002 0.121 B . . . 1.000 0.191 P 1.59 0.404 L -1.18 0.784 T -0.3 0.172 N 0.045 0.040 -0.957 0.397 T 0.000 0.000 T . . . 0.377 0.130 6.407 0.793 0.122 0.242 0.221 N c -0.989 -0.975 0.000 0.050 0.554 0.246 0 -0.139 0.127 0.077 0.145 0.940 0.530 0.007 0.175 0.993 0.574 9.259 0.366 . ENSG00000174837.10 Lung 0.7710 0.6019 0.8018 0.7576 0.7867 0.8062 0.7800 0.7454 0.7636 0.7332 0.6083 0.7847 0.7715 0.8163 0.8023 0.7742 0.7720 hom 2631.35 82 19 6919753 . A G 2631.35 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=32.09;VQSLOD=9.5462;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2664,214,0 19 7125297 7125297 G A exonic INSR synonymous SNV INSR:NM_001079817:exon16:c.C3219T:p.H1073H,INSR:NM_000208:exon17:c.C3255T:p.H1085H 0.29 0.23 0.23 0.45 0.22 0.34 0.2273 0.2317 0.2457 0.4232 0.1813 0.1799 0.2483 0.3179 0.19 0.22 0.18 0.33 0.13 rs1799817 COSM4001048;COSM4001047 1(haematopoietic_and_lymphoid_tissue);9(soft_tissue) Benign|Benign|Benign|Benign not_specified|Pineal_hyperplasia_AND_diabetes_mellitus_syndrome|Leprechaunism_syndrome|Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans RCV000175129.1|RCV000278910.1|RCV000333104.1|RCV000373687.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|C0271695:262190:ORPHA769:33559001|C0265344:246200:ORPHA508:111307005|C0271690:610549:9859006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2265 0.2294 0.2457 0.1539 0.4253 0.1789 0.1819 0.2106 0.3124 0.2071 0.2331 0.2410 0.1854 0.4174 0.1818 0.1740 0.2061 het 1545.69 137 19 7125297 . G A 1545.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.855;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.70;MQ0=0;MQRankSum=-0.242;QD=11.28;ReadPosRankSum=0.721;VQSLOD=6.8808;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,58:137:99:1576,0,2001 19 7166376 7166376 C T exonic INSR synonymous SNV INSR:NM_000208:exon8:c.G1650A:p.A550A,INSR:NM_001079817:exon8:c.G1650A:p.A550A 0.24 0.18 0.24 0.28 0.29 0.26 0.2549 0.1904 0.2533 0.2493 0.3174 0.2577 0.2711 0.2628 0.23 0.19 0.24 0.2 0.27 rs2059806 COSM148469;COSM4132751 1(stomach);10(soft_tissue);1(thyroid) Benign|Benign|Benign|Benign not_specified|Leprechaunism_syndrome|Pineal_hyperplasia_AND_diabetes_mellitus_syndrome|Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans RCV000180111.1|RCV000290514.1|RCV000347847.1|RCV000393623.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|C0265344:246200:ORPHA508:111307005|C0271695:262190:ORPHA769:33559001|C0271690:610549:9859006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2569 0.1852 0.2580 0.3203 0.2476 0.3210 0.2479 0.2672 0.2606 0.2328 0.1834 0.2584 0.3179 0.2432 0.3182 0.2345 0.2786 het 833.11 61 19 7166376 . C T 833.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.748;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9514;MQ=59.24;MQ0=0;MQRankSum=-0.421;QD=13.66;ReadPosRankSum=0.111;VQSLOD=4.8299;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:31,30:61:99:863,0,709 19 7184518 7184518 G A exonic INSR synonymous SNV INSR:NM_000208:exon3:c.C783T:p.D261D,INSR:NM_001079817:exon3:c.C783T:p.D261D 0.14 0.23 0.085 0.049 0.073 0.22 0.1029 0.2092 0.0610 0.0404 0.0747 0.0848 0.1007 0.1824 0.13 0.2 0.087 0.13 0.049 rs891087 COSM5019338;COSM5019339 4(soft_tissue) Benign|Benign|Benign Pineal_hyperplasia_AND_diabetes_mellitus_syndrome|Leprechaunism_syndrome|Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans RCV000298876.1|RCV000352574.1|RCV000406923.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT C0271695:262190:ORPHA769:33559001|C0265344:246200:ORPHA508:111307005|C0271690:610549:9859006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0974 0.2059 0.0578 0.0507 0.0407 0.0778 0.0880 0.0939 0.1824 0.1165 0.2039 0.0549 0.0563 0.0316 0.0803 0.0895 0.0949 het 938.41 72 19 7184518 . G A 938.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.044;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9979;MQ=56.44;MQ0=0;MQRankSum=2.483;QD=13.03;ReadPosRankSum=0.546;VQSLOD=3.1294;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,36:72:99:968,0,932 19 7524846 7524846 C T exonic ARHGEF18 synonymous SNV ARHGEF18:NM_001130955:exon10:c.C1854T:p.V618V,ARHGEF18:NM_015318:exon11:c.C1380T:p.V460V 0.19 0.19 0.22 0.12 0.25 0.17 0.3022 0.2522 0.3318 0.2334 0.3433 0.3509 0.2762 0.2048 0.21 0.18 0.22 0.16 0.12 rs2287914 COSM1751251;COSM1751250 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1999 0.1842 0.1888 0.2952 0.1273 0.1733 0.2228 0.2059 0.168 0.2023 0.1988 0.1835 0.28 0.1128 0.1790 0.2196 0.1936 het 178.24 16 19 7524846 . C T 178.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.103;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=-1.418;QD=11.14;ReadPosRankSum=0.578;VQSLOD=6.0870;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:208,0,171 19 7524855 7524855 C T exonic ARHGEF18 synonymous SNV ARHGEF18:NM_001130955:exon10:c.C1863T:p.R621R,ARHGEF18:NM_015318:exon11:c.C1389T:p.R463R 0.23 0.21 0.22 0.27 0.25 0.19 0.3075 0.2675 0.3132 0.3877 0.3178 0.3399 0.2485 0.2155 0.21 0.2 0.22 0.21 0.15 rs2287915 COSM1751253;COSM1751252 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2115 0.2048 0.1872 0.2973 0.2612 0.1720 0.2212 0.2094 0.1808 0.2154 0.2193 0.1811 0.28 0.2478 0.1790 0.2197 0.1998 het 145.69 15 19 7524855 . C T 145.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.868;DP=15;Dels=0.00;FS=2.027;HRun=0;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;MQRankSum=0.868;QD=9.71;ReadPosRankSum=1.099;VQSLOD=4.8644;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,7:15:99:176,0,189 19 7528734 7528734 A G exonic ARHGEF18 nonsynonymous SNV ARHGEF18:NM_001130955:exon12:c.A2102G:p.Q701R,ARHGEF18:NM_015318:exon13:c.A1628G:p.Q543R 0.83 0.95 0.76 0.83 0.74 0.81 0.7741 0.9292 0.7034 0.8311 0.6746 0.7570 0.7570 0.7983 0.81 0.93 0.75 0.85 0.63 rs2287918 . . . . . . . . . . . . . 0.42 0.106 T 0.0 0.026 B 0.001 0.040 B 0.720 0.063 N 1 0.090 P -0.485 0.027 N 2.21 0.184 T -0.44 0.146 N 0.015 0.002 -1.021 0.233 T 0.000 0.000 T . . . -1.490 0.017 0.003 0.313 0.018 0.060 0.118 N c -1.587 -1.618 0.998 0.362 0.707 0.730 0 -6.09 0.020 -0.367 0.075 -1.632 0.008 0.003 0.159 0.517 0.274 11.421 0.490 PH domain-like;PH domain-like|Pleckstrin homology domain . . 0.7576 0.9336 0.7055 0.8379 0.8325 0.6461 0.7425 0.7635 0.7950 0.7914 0.9361 0.7339 0.8344 0.8221 0.6497 0.7429 0.7337 hom 543.07 19 19 7528734 . A G 543.07 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57.67;MQ0=0;QD=28.58;VQSLOD=7.5511;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:48.11:576,48,0 19 7533767 7533767 T G exonic ARHGEF18 synonymous SNV ARHGEF18:NM_001130955:exon17:c.T2973G:p.R991R,ARHGEF18:NM_015318:exon18:c.T2499G:p.R833R 0.79 0.89 0.74 0.81 0.73 0.74 0.7236 0.8574 0.6659 0.7778 0.6015 0.7151 0.7254 0.7113 0.77 0.87 0.72 0.81 0.38 rs10405143 COSM3933235;COSM3933234 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7078 0.8679 0.6865 0.8161 0.8007 0.5691 0.6992 0.7223 0.7043 0.7496 0.8816 0.7098 0.8278 0.8022 0.5883 0.7101 0.6759 hom 513.79 17 19 7533767 . T G 513.79 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;QD=30.22;VQSLOD=8.1478;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.13:547,42,0 19 7533850 7533850 A G exonic ARHGEF18 nonsynonymous SNV ARHGEF18:NM_001130955:exon17:c.A3056G:p.N1019S,ARHGEF18:NM_015318:exon18:c.A2582G:p.N861S 0.83 0.95 0.76 0.84 0.74 0.81 0.7700 0.9248 0.6929 0.8273 0.6724 0.7509 0.7592 0.7931 0.81 0.93 0.75 0.87 0.29 rs9329368 COSM440621;COSM440622 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.924 0.085 N 1 0.090 P -1.355 0.007 N 1.66 0.278 T 1.13 0.012 N 0.002 0.000 -0.997 0.308 T 0.000 0.000 T . . . -1.151 0.027 0.008 0.175 0.005 0.037 0.089 N c -1.258 -1.144 0.977 0.297 0.672 0.522 0 3.16 0.353 0.182 0.166 0.076 0.183 0.205 0.241 0.227 0.223 3.027 0.057 . . . 0.7526 0.9303 0.7011 0.8363 0.8360 0.6464 0.7341 0.7638 0.7943 0.7930 0.9359 0.7351 0.8367 0.8360 0.6519 0.7444 0.7326 hom 278.58 11 19 7533850 . A G 278.58 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.33;VQSLOD=12.1640;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:11:24.08:312,24,0 19 7569282 7569282 A G exonic TEX45 nonsynonymous SNV TEX45:NM_198534:exon4:c.A767G:p.D256G 0.35 0.5 0.4 0.17 0.38 0.25 0.3499 0.4720 0.3768 0.1555 0.3610 0.3694 0.3620 0.2727 0.41 0.47 0.38 0.4 0.34 rs484870 COSM4132758 2(thyroid) . . . . . . . . . . . 0.946 0.022 T 0.0 0.026 B 0.0 0.013 B 0.512 0.118 N 1.000 0.090 P -1.3 0.007 N 2.55 0.138 T 1.42 0.008 N 0.02 0.004 -0.957 0.398 T 0.000 0.000 T . . . -0.713 0.044 0.067 0.169 0.005 0.001 0.006 N c -1.507 -1.460 0.000 0.068 0.516 0.203 0 -1.82 0.074 0.072 0.144 0.063 0.168 0.036 0.206 0.187 0.214 4.487 0.111 . ENSG00000104883.3 Whole_Blood 0.3470 0.4665 0.3740 0.3854 0.1491 0.3536 0.3681 0.3603 0.2732 0.3830 0.4761 0.3747 0.3940 0.1228 0.3539 0.3653 0.3611 het 998.95 87 19 7569282 . A G 998.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.724;DP=87;Dels=0.00;FS=1.912;HRun=2;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;MQRankSum=-0.559;QD=11.48;ReadPosRankSum=0.482;VQSLOD=5.6822;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,39:87:99:1029,0,1196 19 7570978 7570978 T C exonic TEX45 synonymous SNV TEX45:NM_198534:exon7:c.T1134C:p.P378P 0.64 0.79 0.57 0.45 0.69 0.62 0.6261 0.7482 0.5165 0.4187 0.6198 0.6622 0.6388 0.5902 0.69 0.74 0.66 0.7 0.64 rs685034 COSM4132759 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6182 0.7456 0.5281 0.6856 0.4204 0.6217 0.6579 0.6324 0.5929 0.6606 0.7438 0.5553 0.6788 0.3865 0.6183 0.6585 0.6424 hom 2541.19 82 19 7570978 . T C 2541.19 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8401;MQ=58.29;MQ0=0;QD=30.99;VQSLOD=8.7696;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2574,202,0 19 7570990 7570990 A G exonic TEX45 synonymous SNV TEX45:NM_198534:exon7:c.A1146G:p.R382R 0.34 0.49 0.4 0.17 0.37 0.25 0.3429 0.4627 0.3742 0.1557 0.3397 0.3616 0.3524 0.2694 0.4 0.47 0.37 0.4 0.39 rs685048 COSM4132760 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3379 0.4570 0.3661 0.3802 0.1463 0.3319 0.3594 0.3495 0.2669 0.3738 0.4683 0.3717 0.3940 0.1216 0.3353 0.3565 0.3525 het 874.24 77 19 7570990 . A G 874.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.175;DP=77;Dels=0.00;FS=2.709;HRun=1;HaplotypeScore=0.8667;MQ=57.87;MQ0=0;MQRankSum=-0.702;QD=11.35;ReadPosRankSum=-1.425;VQSLOD=4.6547;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,34:77:99:904,0,1050 19 7571030 7571030 T A exonic TEX45 nonsynonymous SNV TEX45:NM_198534:exon7:c.T1186A:p.Y396N 0.4 0.56 0.4 0.32 0.37 0.31 0.3678 0.5316 0.3814 0.2794 0.3527 0.3654 0.3787 0.3167 0.42 0.53 0.37 0.47 0.32 rs3826736 COSM3766460 1(liver);2(thyroid) . . . . . . . . . . . 0.39 0.108 T 0.0 0.026 B 0.0 0.013 B 0.773 0.066 N 1 0.090 P -1.735 0.003 N 2.69 0.123 T 3.75 0.001 N 0.022 0.005 -0.957 0.398 T 0.000 0.000 T . . . 0.034 0.097 2.919 0.712 0.092 0.002 0.012 N c -1.478 -1.378 1.000 0.747 0.616 0.391 0 2.35 0.280 0.088 0.147 0.047 0.160 0.046 0.210 0.007 0.100 2.809 0.051 . . . 0.3559 0.5212 0.3697 0.3731 0.2736 0.3373 0.3575 0.3561 0.3087 0.3977 0.5304 0.3762 0.39 0.2497 0.3392 0.3553 0.3557 het 370.42 41 19 7571030 . T A 370.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.301;DP=41;Dels=0.00;FS=2.026;HRun=1;HaplotypeScore=1.3670;MQ=58.75;MQ0=0;MQRankSum=-0.065;QD=9.03;ReadPosRankSum=0.065;VQSLOD=5.4894;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,19:41:99:400,0,581 19 7573098 7573098 T A exonic TEX45 nonsynonymous SNV TEX45:NM_198534:exon9:c.T1300A:p.Y434N 0.29 0.29 0.38 0.17 0.36 0.25 0.3270 0.2966 0.3665 0.1578 0.3438 0.3584 0.3477 0.2741 0.34 0.3 0.36 0.32 0.32 rs475923 COSM5618549;COSM440623 1(bone);1(breast) . . . . . . . . . . . 0.376 0.113 T 1.0 0.899 D 0.999 0.916 D 0.020 0.272 N 0.556 0.313 P 2.175 0.612 M 1.24 0.367 T -4.53 0.783 D 0.285 0.344 -0.972 0.368 T 0.000 0.000 T . . . 4.234 0.567 23.9 0.977 0.352 0.394 0.260 N c 0.121 0.046 1.000 0.747 0.609 0.351 0 4.05 0.462 -0.047 0.118 0.122 0.211 0.018 0.193 0.913 0.390 9.577 0.384 . ENSG00000104883.3 Whole_Blood 0.3237 0.2875 0.3595 0.3590 0.1486 0.3306 0.3550 0.3395 0.2690 0.3235 0.2995 0.3604 0.3775 0.1188 0.3333 0.3530 0.3429 het 704.17 50 19 7573098 . T A 704.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.278;DP=50;Dels=0.00;FS=1.101;HRun=1;HaplotypeScore=1.8653;MQ=60.00;MQ0=0;MQRankSum=1.160;QD=14.08;ReadPosRankSum=-0.511;VQSLOD=5.5715;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,29:50:99:734,0,503 19 7573287 7573287 C T exonic TEX45 nonsynonymous SNV TEX45:NM_198534:exon9:c.C1489T:p.P497S 0.24 0.17 0.33 0.17 0.34 0.23 0.2889 0.1889 0.3275 0.1544 0.3274 0.3225 0.3041 0.2447 0.28 0.19 0.33 0.25 0.35 rs1133378 COSM4132761 1(bone);1(thyroid) . . . . . . . . . . . 0.072 0.349 T 0.992 0.629 D 0.876 0.604 P 0.096 0.201 N 1 0.090 P 1.265 0.321 L 2.55 0.138 T -3.2 0.647 D 0.166 0.200 -0.905 0.475 T 0.000 0.000 T . . . 1.130 0.203 11.38 0.997 0.791 0.114 0.164 N c -0.095 -0.300 1.000 0.517 0.609 0.351 0 3.62 0.405 1.537 0.355 0.065 0.171 0.007 0.175 0.007 0.100 11.066 0.470 . . . 0.2910 0.1838 0.3296 0.2809 0.1475 0.3208 0.3253 0.2961 0.2401 0.2752 0.1918 0.3234 0.2967 0.1188 0.3238 0.3243 0.3089 het 345.56 47 19 7573287 . C T 345.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.662;DP=47;Dels=0.00;FS=4.443;HRun=0;HaplotypeScore=1.9459;MQ=59.01;MQ0=0;MQRankSum=-1.224;QD=7.35;ReadPosRankSum=0.483;VQSLOD=4.5714;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,16:47:99:376,0,826 19 7573297 7573297 T C exonic TEX45 nonsynonymous SNV TEX45:NM_198534:exon9:c.T1499C:p.L500P 0.3 0.34 0.38 0.17 0.36 0.25 0.3254 0.3421 0.3546 0.1555 0.3354 0.3516 0.3419 0.2743 0.35 0.34 0.36 0.39 0.38 rs608144 COSM4132762 1(bone);2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.378 N 0.951 0.265 P -2.175 0.001 N 3.14 0.079 T 4.66 0.000 N 0.095 0.095 -0.934 0.436 T 0.000 0.000 T . . . -1.080 0.029 0.011 0.032 0.000 0.003 0.016 N c -1.609 -1.442 0.990 0.321 0.616 0.391 0 2.58 0.299 0.416 0.208 -0.881 0.027 0.011 0.184 0.004 0.083 4.738 0.123 . ENSG00000104883.3 Whole_Blood 0.3226 0.3304 0.3559 0.3595 0.1473 0.3269 0.3494 0.3371 0.2675 0.3324 0.3392 0.3604 0.3733 0.1191 0.3331 0.3485 0.3409 het 265.15 45 19 7573297 . T C 265.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.165;DP=45;Dels=0.00;FS=4.741;HRun=2;HaplotypeScore=0.9469;MQ=58.97;MQ0=0;MQRankSum=-0.919;QD=5.89;ReadPosRankSum=-0.355;VQSLOD=3.2294;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,14:45:99:295,0,921 19 7573301 7573301 C T exonic TEX45 synonymous SNV TEX45:NM_198534:exon9:c.C1503T:p.C501C 0.24 0.17 0.33 0.18 0.34 0.23 0.2926 0.1954 0.3298 0.1566 0.3312 0.3254 0.3059 0.2494 0.28 0.18 0.32 0.24 0.34 rs1133380 COSM4132763 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2904 0.1829 0.3294 0.2812 0.1471 0.3195 0.3247 0.2959 0.2399 0.2752 0.1917 0.3234 0.2987 0.1183 0.3242 0.3243 0.3072 het 237.77 47 19 7573301 . C T 237.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.175;DP=47;Dels=0.00;FS=5.022;HRun=0;HaplotypeScore=0.9469;MQ=59.01;MQ0=0;MQRankSum=0.198;QD=5.06;ReadPosRankSum=-0.361;VQSLOD=3.6678;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,14:47:99:268,0,955 19 7584223 7584223 A G exonic ZNF358 nonsynonymous SNV ZNF358:NM_018083:exon2:c.A95G:p.N32S 0.2 0.1 0.18 0.1 0.33 0.29 0.2544 0.1221 0.1394 0.1046 0.2726 0.3094 0.2711 0.2617 0.24 0.12 0.3 0.18 0.25 rs11555037 . . . . . . . . . . . . . 0.403 0.104 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P -0.205 0.041 N 2.62 0.130 T -0.71 0.202 N 0.017 0.003 -0.920 0.456 T 0.000 0.000 T . . . -1.207 0.025 0.006 0.674 0.081 0.072 0.131 N c -1.176 -1.153 0.935 0.272 0.707 0.730 0 0.314 0.150 0.423 0.209 0.227 0.256 0.000 0.063 0.078 0.180 7.971 0.291 . . . 0.2517 0.1165 0.1530 0.2917 0.1060 0.2829 0.3078 0.2756 0.2648 0.2358 0.1163 0.1734 0.2633 0.1004 0.2822 0.3093 0.2836 het 1138.79 99 19 7584223 . A G 1138.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.042;DP=99;Dels=0.00;FS=1.704;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.743;QD=11.50;ReadPosRankSum=0.937;VQSLOD=5.9491;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,42:99:99:1169,0,1539 19 7593589 7593589 C T exonic MCOLN1 synonymous SNV MCOLN1:NM_020533:exon8:c.C984T:p.N328N 0.26 0.25 0.22 0.16 0.35 0.29 0.2875 0.2355 0.1584 0.1500 0.2624 0.3416 0.3086 0.2727 0.3 0.24 0.34 0.28 0.26 rs612862 COSM4132764 1(thyroid);1(large_intestine) Benign|Likely benign not_specified|Ganglioside_sialidase_deficiency RCV000254195.1|RCV000380192.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0238286:252650:ORPHA578:111384001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2846 0.2341 0.1721 0.4071 0.1574 0.2763 0.3363 0.3206 0.2765 0.2872 0.2417 0.2122 0.3808 0.1551 0.2808 0.3304 0.3092 het 1441.06 105 19 7593589 . C T 1441.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.645;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.34;MQ0=0;MQRankSum=-0.003;QD=13.72;ReadPosRankSum=-0.420;VQSLOD=6.7966;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,54:105:99:1471,0,1368 19 7675369 7675369 C T exonic CAMSAP3 synonymous SNV CAMSAP3:NM_020902:exon6:c.C768T:p.C256C,CAMSAP3:NM_001080429:exon8:c.C849T:p.C283C 0.074 0.086 0.099 0.002 0.16 0.025 0.1038 0.0845 0.0875 0.0006 0.1343 0.1329 0.1392 0.0420 0.12 0.075 0.14 0.098 0.098 rs62113420 COSM3773923;COSM3773925;COSM3773924 2(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1005 0.0857 0.0883 0.0794 0.0007 0.1293 0.1340 0.1265 0.0377 0.1078 0.0860 0.1026 0.0795 0.0012 0.1356 0.1257 0.1189 het 3078.25 250 19 7675369 . C T 3078.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.261;DP=250;DS;Dels=0.00;FS=0.557;HRun=2;HaplotypeScore=7.0912;MQ=59.32;MQ0=0;MQRankSum=-0.161;QD=12.31;ReadPosRankSum=-0.314;VQSLOD=4.5499;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,122:250:99:3108,0,3721 19 7694393 7694393 G A exonic XAB2 synonymous SNV XAB2:NM_020196:exon1:c.C21T:p.L7L 0.26 0.21 0.22 0.21 0.38 0.3 0.3691 0.2608 0.2833 0.2448 0.4958 0.4127 0.3889 0.3308 0.31 0.21 0.37 0.28 0.22 rs4134809 COSM3757409 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3005 0.2050 0.1895 0.2787 0.1744 0.3991 0.3533 0.3241 0.2922 0.3124 0.2061 0.2416 0.2848 0.1990 0.4126 0.3651 0.3525 het 131.10 12 19 7694393 . G A 131.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.583;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.583;QD=10.93;ReadPosRankSum=-0.259;VQSLOD=11.2484;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:161,0,129 19 7711221 7711221 T C exonic STXBP2 synonymous SNV STXBP2:NM_001127396:exon16:c.T1434C:p.D478D,STXBP2:NM_001272034:exon16:c.T1476C:p.D492D,STXBP2:NM_006949:exon16:c.T1443C:p.D481D 0.5 0.54 0.47 0.7 0.4 0.39 0.4626 0.5330 0.5268 0.7061 0.5777 0.4201 0.4865 0.3761 0.42 0.5 0.37 0.48 0.34 rs10001 COSM1178455 1(prostate);1(large_intestine) Benign|Benign not_specified|Familial_hemophagocytic_lymphohistiocytosis RCV000253160.1|RCV000311684.1 MedGen|MedGen:SNOMED_CT CN169374|C0272199:398250003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4168 0.4993 0.4535 0.3051 0.6819 0.5098 0.3662 0.4074 0.3424 0.4468 0.4930 0.4676 0.31 0.7078 0.5253 0.3760 0.4305 het 281.24 18 19 7711221 . T C 281.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.272;DP=18;Dels=0.00;FS=1.958;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.634;QD=15.62;ReadPosRankSum=1.177;VQSLOD=5.8995;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,11:18:99:311,0,168 19 7712277 7712277 A G exonic STXBP2 nonsynonymous SNV STXBP2:NM_001127396:exon18:c.A1567G:p.I523V,STXBP2:NM_001272034:exon18:c.A1609G:p.I537V,STXBP2:NM_006949:exon18:c.A1576G:p.I526V 0.71 0.81 0.69 0.82 0.66 0.51 0.6352 0.7752 0.6440 0.8211 0.7372 0.6143 0.6618 0.4921 0.67 0.77 0.61 0.72 0.52 rs6791 COSM440643 1(thyroid);1(large_intestine) Benign|Benign not_specified|Familial_hemophagocytic_lymphohistiocytosis RCV000250426.1|RCV000308412.1 MedGen|MedGen:SNOMED_CT CN169374|C0272199:398250003 . . . . . . 0.539 0.075 T 0.0 0.026 B 0.0 0.013 B 0.412 0.130 N 1 0.090 P -0.75 0.017 N -0.99 0.759 T 0.59 0.026 N 0.025 0.007 -0.992 0.322 T 0.000 0.000 T . . . -2.314 0.005 0.001 0.252 0.011 0.014 0.046 N c -1.965 -1.865 1.000 0.417 0.672 0.522 0 -0.767 0.104 -0.234 0.090 -1.425 0.011 0.000 0.063 0.000 0.016 6.846 0.230 Sec1-like\x2c domain 2 ENSG00000076924.7|ENSG00000076924.7|ENSG00000076944.10|ENSG00000076924.7|ENSG00000076944.10|ENSG00000076924.7|ENSG00000174788.5|ENSG00000076924.7|ENSG00000076924.7|ENSG00000174788.5|ENSG00000076944.10|ENSG00000174788.5|ENSG00000076944.10|ENSG00000268204.1|ENSG00000174788.5|ENSG00000076924.7|ENSG00000076944.10|ENSG00000268204.1 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.6342 0.7771 0.6461 0.5105 0.8159 0.7291 0.6132 0.6479 0.4936 0.6868 0.7750 0.6563 0.4799 0.8195 0.7305 0.6177 0.6691 het 606.12 58 19 7712277 . A G 606.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.119;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5518;MQ=60.00;MQ0=0;MQRankSum=0.664;QD=10.45;ReadPosRankSum=-0.727;VQSLOD=6.2056;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,26:58:99:636,0,785 19 7796587 7796587 T G exonic CLEC4G synonymous SNV CLEC4G:NM_001244856:exon2:c.A90C:p.T30T,CLEC4G:NM_198492:exon2:c.A126C:p.T42T 0.023 0.0023 0.02 . 0.076 0.02 0.0539 0.0120 0.0324 0.0003 0.0884 0.0732 0.0806 0.0310 0.056 0.014 0.077 0.022 0.09 rs117034642 COSM1179779 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0547 0.0109 0.0340 0.0869 0.0002 0.0789 0.0738 0.0649 0.0304 0.0554 0.0120 0.0442 0.1026 0 0.0743 0.0806 0.0772 hom 1949.56 70 19 7796587 . T G 1949.56 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.86;MQ0=0;QD=27.85;VQSLOD=7.5725;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:1983,159,0 19 7831628 7831628 G A exonic CLEC4M nonsynonymous SNV CLEC4M:NM_001144906:exon4:c.G463A:p.D155N,CLEC4M:NM_001144907:exon4:c.G670A:p.D224N,CLEC4M:NM_001144911:exon4:c.G787A:p.D263N,CLEC4M:NM_001144904:exon5:c.G718A:p.D240N,CLEC4M:NM_001144908:exon5:c.G595A:p.D199N,CLEC4M:NM_014257:exon5:c.G871A:p.D291N,CLEC4M:NM_001144905:exon6:c.G799A:p.D267N,CLEC4M:NM_001144909:exon6:c.G733A:p.D245N,CLEC4M:NM_001144910:exon6:c.G802A:p.D268N 0.18 0.011 0.36 0.14 0.3 0.19 0.2651 0.0544 0.3210 0.1579 0.3044 0.3109 0.2676 0.2139 0.23 0.069 0.31 0.16 0.3 rs2277998 COSM5002546;COSM5002545;COSM1631161 1(NS);1(pancreas);1(liver) . . . . . . . . . . . 0.209 0.237 T 0.056 0.241 B 0.014 0.198 B . . . 1 0.090 P 1.69 0.435 L 2.1 0.200 T -2.74 0.582 D 0.021 0.021 -1.013 0.259 T 0.000 0.000 T . . . -1.283 0.023 0.005 0.710 0.092 0.002 0.010 N c -2.160 -2.321 0.026 0.137 0.497 0.185 0 -5.14 0.026 -2.250 0.013 -3.652 0.001 0.000 0.063 0.000 0.016 1.876 0.030 C-type lectin fold;C-type lectin fold|C-type lectin-like;C-type lectin|C-type lectin fold|C-type lectin-like ENSG00000104938.12|ENSG00000104938.12|ENSG00000104938.12 Adrenal_Gland|Brain_Cortex|Testis 0.2697 0.0532 0.3249 0.1982 0.1500 0.3013 0.3161 0.2831 0.2135 0.2265 0.0625 0.2983 0.2219 0.1491 0.2979 0.3078 0.2592 het 2078.70 147 19 7831628 . G A 2078.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.979;DP=147;Dels=0.00;FS=2.062;HRun=1;HaplotypeScore=2.9132;MQ=59.43;MQ0=0;MQRankSum=-0.413;QD=14.14;ReadPosRankSum=-1.454;VQSLOD=6.0920;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,78:147:99:2109,0,1750 19 7913974 7913974 T C exonic EVI5L synonymous SNV EVI5L:NM_001159944:exon3:c.T495C:p.H165H,EVI5L:NM_145245:exon4:c.T495C:p.H165H 0.7 0.57 0.81 0.59 0.76 0.85 0.7626 0.6226 0.8437 0.6033 0.8234 0.7622 0.7666 0.8499 0.72 0.62 0.76 0.66 0.72 rs555609 COSM4132774 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7648 0.6218 0.8366 0.7593 0.5863 0.8177 0.7561 0.7701 0.8485 0.7233 0.6265 0.8174 0.7267 0.5716 0.8127 0.7651 0.7969 hom 660.19 21 19 7913974 . T C 660.19 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=31.44;VQSLOD=9.5497;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:60.17:693,60,0 19 7916620 7916620 A G exonic EVI5L synonymous SNV EVI5L:NM_001159944:exon7:c.A951G:p.A317A,EVI5L:NM_145245:exon8:c.A951G:p.A317A 0.77 0.63 0.85 0.7 0.84 0.88 0.8324 0.6732 0.8708 0.6979 0.9042 0.8511 0.8571 0.8859 0.79 0.68 0.85 0.77 0.79 rs580790 COSM4132775 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8349 0.6741 0.8608 0.8588 0.6955 0.8982 0.8466 0.8568 0.8803 0.8019 0.6791 0.8616 0.8433 0.6940 0.8960 0.8544 0.8696 hom 1681.81 57 19 7916620 . A G 1681.81 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;QD=29.51;VQSLOD=8.0173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1715,135,0 19 7928462 7928462 T C exonic EVI5L synonymous SNV EVI5L:NM_001159944:exon19:c.T2292C:p.Y764Y,EVI5L:NM_145245:exon19:c.T2259C:p.Y753Y 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 0.9997 1 1 1 1 . . . 0.98 0.62 rs10410459 COSM4132777 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 0.9999 1 0.9998 1 1.0000 1 1.0000 0.9999 1 1 1 0.9981 1 1 1 hom 305.86 12 19 7928462 . T C 305.86 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;QD=25.49;VQSLOD=6.5713;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:27.07:339,27,0 19 7963914 7963914 A C exonic LRRC8E synonymous SNV LRRC8E:NM_001268285:exon2:c.A120C:p.V40V,LRRC8E:NM_025061:exon3:c.A507C:p.V169V,LRRC8E:NM_001268284:exon4:c.A507C:p.V169V 0.99 1. 1. 0.97 1. 0.99 0.9964 1 0.9999 0.9537 1 1.0000 1 0.9984 . . . 1. 1. rs524029 COSM4132791 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9966 1 0.9999 1 0.9550 1 1.0000 0.9984 0.9985 0.9970 1 1 1 0.9431 1 1 0.9990 hom 4272.68 129 19 7963914 . A C 4272.68 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=60.00;MQ0=0;QD=33.12;VQSLOD=8.0103;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4272,343,0 19 7986638 7986638 C G exonic SNAPC2 nonsynonymous SNV SNAPC2:NM_003083:exon3:c.C352G:p.L118V 0.41 0.22 0.41 0.52 0.55 0.44 0.4983 0.2690 0.4551 0.5101 0.5128 0.5488 0.5124 0.4542 0.47 0.28 0.56 0.37 0.46 rs475002 . . . . . . . . . . . . . 0.037 0.430 D 0.992 0.629 D 0.912 0.630 D 0.011 0.297 N 1.000 0.191 P 1.975 0.537 M 0.79 0.491 T -2.0 0.461 N 0.145 0.171 -0.928 0.444 T 0.000 0.000 T . . . 2.991 0.420 22.2 0.995 0.662 0.123 0.170 N c -0.015 -0.191 1.000 0.747 0.660 0.490 0 -0.458 0.115 -0.155 0.100 0.935 0.490 0.003 0.159 0.849 0.354 1.330 0.020 . . . 0.4969 0.2618 0.4539 0.4569 0.5045 0.5046 0.5566 0.4972 0.4475 0.4628 0.2694 0.4653 0.4570 0.4789 0.5095 0.5603 0.5 hom 2057.55 69 19 7986638 . C G 2057.55 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=29.82;VQSLOD=8.4832;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2091,169,0 19 7992976 7992976 T C exonic TIMM44 nonsynonymous SNV TIMM44:NM_006351:exon11:c.A1114G:p.I372V 0.014 0.0008 0.025 . 0.047 0.0061 0.0308 0.0062 0.0110 0.0002 0.0818 0.0414 0.0409 0.0142 0.032 0.0084 0.045 . 0.041 rs11542187 . . Benign not_specified RCV000125503.1 MedGen CN169374 . . . . . . 0.259 0.166 T 0.002 0.090 B 0.012 0.149 B 0.000 0.843 N 1 0.810 D 1.96 0.533 M -1.28 0.794 T -0.52 0.162 N 0.143 0.168 -0.880 0.498 T 0.085 0.332 T . . . -0.077 0.087 1.910 0.852 0.152 0.869 0.460 D c -0.511 -0.484 1.000 0.747 0.672 0.522 0 2.55 0.296 2.770 0.471 0.146 0.234 1.000 0.715 0.039 0.156 6.007 0.187 NTF2-like domain|Tim44-like domain . . 0.0312 0.0057 0.0135 0.0377 0.0001 0.0740 0.0406 0.0336 0.0134 0.0354 0.0068 0.0191 0.0265 0 0.0779 0.0459 0.0532 het 328.37 40 19 7992976 . T C 328.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.300;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.54;MQ0=0;MQRankSum=-0.128;QD=8.21;ReadPosRankSum=-2.584;VQSLOD=4.2581;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,16:40:99:358,0,588 19 8121360 8121360 A G exonic CCL25 nonsynonymous SNV CCL25:NM_001201359:exon4:c.A302G:p.H101R,CCL25:NM_005624:exon4:c.A302G:p.H101R 0.22 0.26 0.35 0.094 0.25 0.16 0.2323 0.2652 0.3044 0.1002 0.2818 0.2372 0.2534 0.1912 0.24 0.25 0.24 0.23 0.26 rs2032887 COSM5021980 1(bone) . . . . . . . . . . . 0.497 0.107 T 0.0 0.026 B 0.0 0.013 B 0.092 0.025 N 1 0.090 P 0.46 0.130 N 3.83 0.037 T -1.67 0.399 N 0.006 0.000 -0.903 0.477 T 0.000 0.000 T . . . -1.847 0.010 0.002 0.133 0.003 0.006 0.027 N c -1.933 -2.014 0.001 0.081 0.615 0.372 0 -3.03 0.051 -2.190 0.013 -1.984 0.005 0.000 0.063 0.000 0.016 1.007 0.014 Chemokine interleukin-8-like domain . . 0.2378 0.2609 0.3039 0.2504 0.0981 0.2923 0.2369 0.2484 0.1906 0.2455 0.2591 0.2971 0.2086 0.0903 0.2904 0.2423 0.2367 het 625.96 76 19 8121360 . A G 625.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.879;DP=76;Dels=0.00;FS=0.913;HRun=0;HaplotypeScore=0.7340;MQ=57.58;MQ0=0;MQRankSum=1.244;QD=8.24;ReadPosRankSum=-1.933;VQSLOD=3.9242;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,28:76:99:656,0,1203 19 8122767 8122767 T C exonic CCL25 synonymous SNV CCL25:NM_001201359:exon5:c.T405C:p.S135S,CCL25:NM_005624:exon5:c.T408C:p.S136S 0.93 1. 0.85 0.89 0.92 0.96 0.9221 0.9863 0.7855 0.8917 0.9495 0.9285 0.9276 0.9582 0.95 0.98 0.93 0.85 0.92 rs2303165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9175 0.9861 0.7958 0.9425 0.8932 0.9501 0.9283 0.9215 0.9593 0.9433 0.9863 0.8222 0.9404 0.8864 0.9499 0.9295 0.9481 hom 8081.87 248 19 8122767 . T C 8081.87 Mask AC=2;AF=1.00;AN=2;DP=248;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9292;MQ=59.52;MQ0=0;QD=32.59;VQSLOD=9.3116;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,247:248:99:8081,620,0 19 8138054 8138054 C A exonic FBN3 nonsynonymous SNV FBN3:NM_001321431:exon62:c.G7830T:p.E2610D,FBN3:NM_032447:exon62:c.G7830T:p.E2610D 0.58 0.9 0.64 0.36 0.56 0.36 0.5465 0.8556 0.5860 0.3911 0.5901 0.5467 0.5301 0.3898 0.64 0.85 0.54 0.69 0.6 rs7257948 COSM1397709 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.090 P -2.72 0.000 N 1.97 0.221 T 2.35 0.003 N 0.112 0.121 -0.995 0.314 T 0.000 0.000 T . . . -0.445 0.059 0.301 0.135 0.003 0.049 0.105 N c -2.070 -1.997 1.000 0.747 0.718 0.821 0 -3.82 0.040 -1.126 0.033 -1.444 0.011 0.000 0.063 0.220 0.222 10.101 0.415 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain . . 0.5426 0.8629 0.5906 0.4247 0.3857 0.5935 0.5514 0.5435 0.3891 0.6438 0.8568 0.5745 0.3974 0.3781 0.5972 0.5728 0.5667 het 1526.37 120 19 8138054 . C A 1526.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.597;DP=120;Dels=0.00;FS=3.712;HRun=0;HaplotypeScore=2.5975;MQ=59.65;MQ0=0;MQRankSum=0.710;QD=12.72;ReadPosRankSum=-1.151;VQSLOD=6.1006;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,59:120:99:1556,0,1677 19 8145921 8145921 C T exonic FBN3 synonymous SNV FBN3:NM_001321431:exon59:c.G7419A:p.P2473P,FBN3:NM_032447:exon59:c.G7419A:p.P2473P 0.56 0.84 0.64 0.36 0.56 0.35 0.5378 0.8044 0.5797 0.3722 0.5937 0.5438 0.5322 0.3810 0.63 0.8 0.54 0.63 0.26 rs2303168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5351 0.8097 0.5843 0.4085 0.3698 0.5956 0.5500 0.5372 0.3815 0.6258 0.8020 0.5658 0.3907 0.3556 0.5993 0.5694 0.5837 het 793.87 76 19 8145921 . C T 793.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.797;DP=76;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=2.4304;MQ=57.90;MQ0=0;MQRankSum=-0.017;QD=10.45;ReadPosRankSum=-0.248;VQSLOD=5.3369;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,36:76:99:824,0,999 19 8152725 8152725 A G exonic FBN3 synonymous SNV FBN3:NM_001321431:exon53:c.T6603C:p.D2201D,FBN3:NM_032447:exon53:c.T6603C:p.D2201D 0.67 0.93 0.71 0.46 0.7 0.47 0.6849 0.9021 0.6384 0.5064 0.6579 0.7150 0.6892 0.5627 0.79 0.9 0.73 0.64 0.6 rs12460643 COSM4415014 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6796 0.9066 0.6429 0.7235 0.5085 0.6527 0.7190 0.6923 0.5632 0.7503 0.9054 0.6591 0.7550 0.5087 0.6456 0.7203 0.6742 hom 4237.08 138 19 8152725 . A G 4237.08 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8108;MQ=59.30;MQ0=0;QD=30.70;VQSLOD=8.2428;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4236,355,0 19 8154990 8154990 C T exonic FBN3 synonymous SNV FBN3:NM_001321431:exon49:c.G6177A:p.E2059E,FBN3:NM_032447:exon49:c.G6177A:p.E2059E 0.25 0.37 0.22 0.072 0.34 0.18 0.2954 0.3653 0.1628 0.0809 0.2684 0.3597 0.2911 0.2089 0.37 0.36 0.37 0.27 0.25 rs35002391 COSM3757420 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2858 0.3673 0.1750 0.3424 0.0796 0.2660 0.3591 0.3157 0.2090 0.3260 0.3628 0.2182 0.3675 0.0812 0.2652 0.3507 0.3237 hom 1763.92 54 19 8154990 . C T 1763.92 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.67;VQSLOD=13.7161;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1797,141,0 19 8168545 8168545 C T exonic FBN3 nonsynonymous SNV FBN3:NM_001321431:exon39:c.G4840A:p.G1614S,FBN3:NM_032447:exon39:c.G4840A:p.G1614S 0.14 0.051 0.19 0.048 0.3 0.15 0.2471 0.0811 0.1381 0.0587 0.2473 0.3298 0.2748 0.1913 0.25 0.086 0.34 0.13 0.25 rs33967815 COSM3757424 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.024 0.477 D 1.0 0.899 D 0.999 0.916 D 0.000 0.843 U 0.000 0.537 P 0.68 0.165 N -2.88 0.915 D -3.39 0.669 D 0.147 0.174 -1.232 0.000 T 0.000 0.000 T . . . 5.321 0.720 25.8 0.998 0.891 0.931 0.571 D c 0.294 0.239 0.334 0.195 0.672 0.522 0 3.61 0.403 5.593 0.670 0.650 0.292 0.992 0.373 0.730 0.316 15.606 0.763 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain . . 0.2438 0.0769 0.1441 0.3367 0.0556 0.2507 0.3287 0.2756 0.1936 0.2285 0.0770 0.1599 0.3377 0.0599 0.2534 0.3271 0.2863 het 1152.98 79 19 8168545 . C T 1152.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.712;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6120;MQ=60.00;MQ0=0;MQRankSum=-1.113;QD=14.59;ReadPosRankSum=-0.407;VQSLOD=5.7104;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,39:79:99:1183,0,1041 19 8188771 8188771 G A exonic FBN3 synonymous SNV FBN3:NM_001321431:exon23:c.C2853T:p.C951C,FBN3:NM_032447:exon23:c.C2853T:p.C951C . . . . . . 5.882e-05 0 8.726e-05 0 0 7.675e-05 0 6.069e-05 0.0002 . 0.0002 . . rs148377163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.486e-05 0 2.98e-05 0 0 0 8.11e-05 0 3.25e-05 0.0002 0.0001 0 0 0 0.0003 0.0002 0 het 319.55 32 19 8188771 . G A 319.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.882;DP=32;Dels=0.00;FS=5.792;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=0.652;QD=9.99;ReadPosRankSum=-0.345;VQSLOD=3.7849;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,13:32:99:350,0,535 19 8191401 8191401 G A exonic FBN3 synonymous SNV FBN3:NM_001321431:exon20:c.C2505T:p.C835C,FBN3:NM_032447:exon20:c.C2505T:p.C835C 0.26 0.13 0.26 0.28 0.44 0.24 0.3611 0.1670 0.1922 0.2758 0.3562 0.4529 0.3785 0.2765 0.36 0.17 0.45 0.27 0.24 rs3813778 COSM440673 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3525 0.1600 0.2038 0.4456 0.2739 0.3482 0.4482 0.3898 0.2767 0.3363 0.1594 0.2422 0.4470 0.2685 0.3509 0.4426 0.3947 hom 1327.88 43 19 8191401 . G A 1327.88 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=30.88;VQSLOD=9.3240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1361,108,0 19 8196444 8196444 C T exonic FBN3 nonsynonymous SNV FBN3:NM_001321431:exon15:c.G1984A:p.D662N,FBN3:NM_032447:exon15:c.G1984A:p.D662N 0.99 0.99 1. 0.98 1. 0.98 0.9936 0.9904 0.9992 0.9803 1 0.9985 0.9944 0.9760 1. 0.99 1. 1. 0.98 rs4804271 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.192 P -1.37 0.006 N -2.95 0.919 D 2.49 0.002 N 0.016 0.003 -0.942 0.423 T 0.000 0.000 T . . . -0.081 0.086 1.874 0.235 0.010 0.018 0.056 N c -1.556 -1.406 0.000 0.029 0.696 0.567 0 0.834 0.179 1.584 0.360 -0.080 0.119 0.985 0.357 0.616 0.292 7.239 0.251 TB domain . . 0.9941 0.9908 0.9988 0.9927 0.9803 1 0.9989 0.9952 0.9768 0.9958 0.9917 0.9988 0.9934 0.9771 1 0.9991 0.9949 hom 2662.29 85 19 8196444 . C T 2662.29 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.4095;MQ=57.66;MQ0=0;QD=31.32;VQSLOD=6.7345;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:85:99:2695,217,0 19 8196508 8196508 G C exonic FBN3 synonymous SNV FBN3:NM_001321431:exon15:c.C1920G:p.S640S,FBN3:NM_032447:exon15:c.C1920G:p.S640S 0.18 0.11 0.22 0.049 0.36 0.21 0.2968 0.1344 0.1625 0.0525 0.3032 0.3916 0.3256 0.2336 0.31 0.14 0.39 0.16 0.29 rs12974280 COSM3757426 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2917 0.1348 0.1718 0.3888 0.0500 0.3082 0.3889 0.3282 0.2343 0.2842 0.1363 0.2064 0.4073 0.0527 0.3153 0.3862 0.3405 hom 2710.60 85 19 8196508 . G C 2710.60 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.51;MQ0=0;QD=31.89;VQSLOD=9.5573;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2744,226,0 19 8212263 8212263 G A exonic FBN3 synonymous SNV FBN3:NM_001321431:exon2:c.C102T:p.D34D,FBN3:NM_032447:exon2:c.C102T:p.D34D 0.21 0.11 0.21 0.22 0.35 0.2 0.3743 0.2249 0.2908 0.2871 0.5018 0.4308 0.3833 0.2779 0.28 0.17 0.34 0.17 0.16 rs11878432 COSM3757428 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2876 0.1593 0.1830 0.2566 0.2023 0.3926 0.3541 0.2840 0.2249 0.2914 0.1587 0.2416 0.2848 0.1786 0.3914 0.3576 0.3323 het 162.05 17 19 8212263 . G A 162.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=57.77;MQ0=0;MQRankSum=0.818;QD=9.53;ReadPosRankSum=0.625;VQSLOD=6.0687;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,8:17:99:192,0,220 19 8321937 8321937 C T exonic CERS4 synonymous SNV CERS4:NM_024552:exon9:c.C717T:p.H239H 0.23 0.34 0.23 0.2 0.21 0.12 0.2125 0.3097 0.3429 0.2101 0.2242 0.1869 0.2195 0.1551 0.23 0.31 0.19 0.28 0.15 rs1127912 COSM148474 1(breast);2(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2155 0.3094 0.3277 0.1648 0.2066 0.2303 0.1882 0.2150 0.1532 0.2298 0.3000 0.3007 0.1623 0.2116 0.2332 0.1890 0.2057 het 3228.29 244 19 8321937 . C T 3228.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.927;DP=244;DS;Dels=0.00;FS=2.288;HRun=0;HaplotypeScore=3.5683;MQ=59.45;MQ0=0;MQRankSum=0.893;QD=13.23;ReadPosRankSum=0.017;VQSLOD=6.3317;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,116:244:99:3259,0,3319 19 8321946 8321946 T C exonic CERS4 synonymous SNV CERS4:NM_024552:exon9:c.T726C:p.S242S 0.44 0.43 0.39 0.45 0.33 0.59 0.3880 0.4326 0.3666 0.4303 0.4122 0.3425 0.3874 0.5401 0.36 0.43 0.32 0.38 0.2 rs36247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3825 0.4279 0.3656 0.3520 0.4295 0.4155 0.3333 0.3739 0.5165 0.3826 0.4322 0.3831 0.3675 0.4280 0.4235 0.3407 0.3640 het 4117.57 249 19 8321946 . T C 4117.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.505;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3225;MQ=59.27;MQ0=0;MQRankSum=1.205;QD=16.54;ReadPosRankSum=-0.510;VQSLOD=4.2699;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:115,134:249:99:3454,0,3216 19 8326904 8326904 G A exonic CERS4 nonsynonymous SNV CERS4:NM_024552:exon12:c.G1096A:p.A366T 0.75 0.67 0.78 0.8 0.78 0.78 0.7499 0.6881 0.6777 0.8040 0.7431 0.7643 0.7816 0.7533 0.74 0.69 0.76 0.75 0.19 rs36259 COSM1741719 1(urinary_tract);1(thyroid) . . . . . . . . . . . 0.579 0.912 T 0.012 0.151 B 0.01 0.139 B 0.000 0.002 N 1 0.090 P 2.005 0.547 M 3.27 0.114 T -0.21 0.116 N 0.052 0.036 -0.986 0.336 T 0.000 0.000 T . . . -0.037 0.090 2.248 0.712 0.092 0.048 0.104 N c -0.941 -0.967 0.034 0.141 0.707 0.730 0 0.913 0.184 0.970 0.288 0.718 0.303 0.003 0.159 0.017 0.128 2.328 0.039 TRAM/LAG1/CLN8 homology domain . . 0.7499 0.6820 0.6999 0.8100 0.8019 0.7488 0.7617 0.7707 0.7431 0.7368 0.6775 0.7026 0.7980 0.7975 0.7570 0.7577 0.7832 het 427.59 36 19 8326904 . G A 427.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.264;DP=36;Dels=0.00;FS=1.579;HRun=0;HaplotypeScore=1.9577;MQ=58.83;MQ0=0;MQRankSum=0.190;QD=11.88;ReadPosRankSum=-1.838;VQSLOD=6.0475;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,19:36:99:458,0,506 19 8376431 8376431 G A exonic NDUFA7 synonymous SNV NDUFA7:NM_005001:exon4:c.C300T:p.P100P 0.14 0.03 0.27 0.21 0.19 0.072 0.1750 0.0480 0.3131 0.2136 0.1996 0.1885 0.1920 0.0665 0.15 0.055 0.19 0.11 0.16 rs561 COSM4417372 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1814 0.0439 0.3014 0.1916 0.2129 0.1913 0.1879 0.1992 0.0654 0.1495 0.0451 0.2691 0.1722 0.2120 0.1851 0.1857 0.1865 het 1877.23 125 19 8376431 . G A 1877.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.931;DP=125;Dels=0.00;FS=4.673;HRun=0;HaplotypeScore=2.9935;MQ=59.48;MQ0=0;MQRankSum=0.254;QD=15.02;ReadPosRankSum=0.454;VQSLOD=5.8387;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,68:125:99:1907,0,1453 19 8436164 8436164 C T exonic ANGPTL4 nonsynonymous SNV ANGPTL4:NM_001039667:exon5:c.C683T:p.T228M,ANGPTL4:NM_139314:exon6:c.C797T:p.T266M 0.24 0.26 0.33 0.059 0.33 0.25 0.3042 0.2436 0.4024 0.0567 0.3883 0.3306 0.2918 0.2642 0.29 0.25 0.31 0.29 0.27 rs1044250 COSM3757433 11(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.208 0.200 T 0.129 0.254 B 0.056 0.247 B 0.123 0.027 N 1 0.090 P 3.515 0.931 H 1.39 0.338 T -2.71 0.600 D 0.067 0.098 -0.975 0.361 T 0.000 0.000 T . . . 0.882 0.178 9.957 0.948 0.249 0.086 0.143 N c -0.820 -0.962 1.000 0.747 0.722 0.854 0 -1.27 0.088 0.785 0.263 -0.457 0.055 0.001 0.137 0.022 0.137 6.588 0.217 Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular domain|Fibrinogen\x2c alpha/beta/gamma chain\x2c C-terminal globular\x2c subdomain 1 ENSG00000099785.6|ENSG00000099785.6|ENSG00000099785.6|ENSG00000099785.6 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial|Thyroid 0.3057 0.2372 0.3872 0.3625 0.0504 0.3976 0.3179 0.3075 0.2652 0.2893 0.2298 0.3337 0.3467 0.0514 0.3863 0.3212 0.3262 het 863.28 72 19 8436164 . C T 863.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.005;DP=72;Dels=0.00;FS=3.257;HRun=0;HaplotypeScore=0.9967;MQ=60.00;MQ0=0;MQRankSum=0.549;QD=11.99;ReadPosRankSum=-0.168;VQSLOD=6.5538;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,32:72:99:893,0,942 19 8438716 8438716 G A exonic ANGPTL4 synonymous SNV ANGPTL4:NM_001039667:exon6:c.G1053A:p.P351P,ANGPTL4:NM_139314:exon7:c.G1167A:p.P389P 0.056 0.0061 0.072 0.001 0.14 0.076 0.1037 0.0250 0.0538 0.0002 0.1046 0.1406 0.1084 0.0934 0.1 0.028 0.14 0.043 0.14 rs11672433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1027 0.0244 0.0564 0.1007 0.0005 0.0985 0.1455 0.1117 0.0967 0.0953 0.0269 0.0704 0.1026 0 0.1016 0.1434 0.1245 het 1737.47 165 19 8438716 . G A 1737.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.785;DP=165;DS;Dels=0.00;FS=3.309;HRun=0;HaplotypeScore=2.7447;MQ=58.84;MQ0=1;MQRankSum=0.493;QD=10.53;ReadPosRankSum=0.969;VQSLOD=6.0750;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,73:165:99:1767,0,2431 19 8486884 8486884 G A exonic MARCH2 nonsynonymous SNV MARCH2:NM_001005415:exon2:c.G160A:p.A54T,MARCH2:NM_001005416:exon2:c.G160A:p.A54T,MARCH2:NM_016496:exon3:c.G160A:p.A54T 0.2 0.035 0.27 0.24 0.29 0.23 0.2743 0.0854 0.2222 0.2370 0.2932 0.3228 0.2685 0.2457 0.25 0.095 0.33 0.17 0.46 rs1133893 COSM3773926;COSM440684 1(haematopoietic_and_lymphoid_tissue);1(kidney) . . . . . . . . . . . 0.433 0.094 T 0.05 0.307 B 0.073 0.337 B 0.000 0.629 D 0.000 0.524 P 1.935 0.520 L 2.46 0.149 T 0.06 0.156 N 0.128 0.230 -0.921 0.455 T 0.000 0.000 T . . . 3.146 0.438 22.6 0.996 0.768 0.672 0.331 D c -0.063 0.086 1.000 0.747 0.737 0.974 0 4.6 0.564 3.574 0.534 1.029 0.652 1.000 0.715 0.978 0.483 14.724 0.688 . ENSG00000099785.6|ENSG00000099785.6|ENSG00000099785.6|ENSG00000099785.6 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Skin_Sun_Exposed_Lower_leg 0.2781 0.0824 0.2351 0.3560 0.2388 0.2872 0.3247 0.2997 0.2395 0.2441 0.0888 0.2327 0.3245 0.2450 0.2809 0.3229 0.2751 het 1400.61 134 19 8486884 . G A 1400.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.181;DP=134;Dels=0.00;FS=2.237;HRun=0;HaplotypeScore=4.5466;MQ=59.05;MQ0=0;MQRankSum=-0.363;QD=10.45;ReadPosRankSum=-1.457;VQSLOD=5.2367;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,60:134:99:1431,0,1979 19 8551094 8551094 T C exonic HNRNPM synonymous SNV HNRNPM:NM_001297418:exon12:c.T1377C:p.P459P,HNRNPM:NM_005968:exon14:c.T1782C:p.P594P,HNRNPM:NM_031203:exon15:c.T1665C:p.P555P 0.87 0.58 0.94 0.98 0.98 0.98 0.9450 0.6016 0.9626 0.9871 0.9901 0.9719 0.9668 0.9839 0.85 0.62 0.97 0.71 0.89 rs2230647 COSM3722080 1(thyroid);1(upper_aerodigestive_tract);8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9500 0.5948 0.9603 0.9370 0.9855 0.9897 0.9751 0.9528 0.9840 0.8710 0.6030 0.9426 0.9267 0.9821 0.9848 0.9777 0.9550 hom 2656.18 86 19 8551094 . T C 2656.18 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6607;MQ=59.19;MQ0=0;QD=30.89;VQSLOD=8.5248;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2689,235,0 19 8553630 8553630 C T exonic HNRNPM synonymous SNV HNRNPM:NM_001297418:exon14:c.C1680T:p.G560G,HNRNPM:NM_005968:exon16:c.C2085T:p.G695G,HNRNPM:NM_031203:exon17:c.C1968T:p.G656G 0.88 0.62 0.94 0.98 0.97 0.97 0.9414 0.6559 0.9625 0.9871 0.9881 0.9648 0.9604 0.9687 0.87 0.67 0.97 0.78 0.99 rs6992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9481 0.6488 0.9611 0.9358 0.9859 0.9870 0.9667 0.9466 0.9697 0.8810 0.6540 0.9451 0.9205 0.9827 0.9825 0.9691 0.9501 het 1859.77 151 19 8553630 . C T 1859.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.457;DP=151;Dels=0.00;FS=3.923;HRun=0;HaplotypeScore=1.7128;MQ=59.39;MQ0=0;MQRankSum=0.438;QD=12.32;ReadPosRankSum=0.141;VQSLOD=6.2648;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,77:151:99:1890,0,1920 19 8563456 8563456 C G exonic PRAM1 synonymous SNV PRAM1:NM_032152:exon2:c.G1236C:p.A412A 1. 1. 1. 1. 0.99 1. 0.9951 0.9986 0.9965 1 0.9944 0.9926 0.9976 0.9996 0.99 1. 0.99 0.74 . rs2910435 COSM3757438 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9951 0.9989 0.9969 0.9982 1 0.9943 0.9918 0.9952 0.9995 0.9951 0.9992 0.9916 1 1 0.9943 0.9923 0.9980 hom 880.64 34 19 8563456 . C G 880.64 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.32;MQ0=0;QD=25.90;VQSLOD=6.3478;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:69.22:914,69,0 19 8645786 8645786 A C exonic ADAMTS10 nonsynonymous SNV ADAMTS10:NM_001282352:exon13:c.T1764G:p.H588Q,ADAMTS10:NM_030957:exon26:c.T3303G:p.H1101Q 1. 1. 1. 1. 1. 1. 0.9999 1 1 0.9999 1 0.9998 1 0.9999 1. 1. 1. 1. 0.8 rs7252299 COSM4132814 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.093 B 0.000 0.843 N 1.000 0.090 P -1.245 0.008 N 1.1 0.390 T 2.49 0.002 N 0.013 0.035 -0.958 0.395 T 0.000 0.000 T . . . 0.358 0.129 6.241 0.831 0.141 0.355 0.251 N c -1.140 -0.944 1.000 0.747 0.658 0.488 0 -2.4 0.062 0.032 0.135 -0.498 0.052 0.911 0.315 0.966 0.452 0.453 0.005 PLAC . . 0.9999 1 1.0000 1 0.9999 1 0.9998 1 0.9999 0.9998 0.9999 1 1 1 1 0.9997 1 hom 967.04 31 19 8645786 . A C 967.04 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=31.19;VQSLOD=9.0657;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:78.24:1000,78,0 19 8669931 8669931 G C exonic ADAMTS10 nonsynonymous SNV ADAMTS10:NM_030957:exon4:c.C401G:p.T134S 0.89 0.98 0.85 0.97 0.7 0.93 0.7994 0.9469 0.8897 0.9733 0.6988 0.7134 0.7776 0.9230 0.78 0.94 0.7 0.85 0.6 rs7255721 COSM3720716 2(thyroid);1(upper_aerodigestive_tract) Benign Weill-Marchesani_syndrome RCV000374892.1 MedGen:Orphanet C0265313:ORPHA3449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7907 0.9498 0.8698 0.8109 0.9735 0.6915 0.6977 0.7534 0.9203 0.7914 0.9438 0.8580 0.8079 0.9704 0.6931 0.7054 0.7418 het 258.97 27 19 8669931 . G C 258.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.708;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.073;QD=9.59;ReadPosRankSum=0.415;VQSLOD=11.5692;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:289,0,413 19 8808373 8808373 G T exonic ACTL9 nonsynonymous SNV ACTL9:NM_178525:exon1:c.C679A:p.H227N 0.6 0.57 0.52 0.68 0.54 0.67 0.5524 0.5575 0.5116 0.6857 0.4569 0.5247 0.5415 0.6579 0.53 0.55 0.52 0.52 0.61 rs4804079 COSM3749578 1(urinary_tract);7(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5503 0.5568 0.5072 0.5594 0.6938 0.4614 0.5213 0.5326 0.6606 0.5241 0.5495 0.4940 0.5433 0.6687 0.4630 0.5104 0.5061 het 926.48 80 19 8808373 . G T 926.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.997;DP=80;Dels=0.00;FS=3.030;HRun=1;HaplotypeScore=1.7262;MQ=59.48;MQ0=0;MQRankSum=-0.630;QD=11.58;ReadPosRankSum=-0.970;VQSLOD=6.3739;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,35:80:99:956,0,1344 19 8808900 8808900 A G exonic ACTL9 nonsynonymous SNV ACTL9:NM_178525:exon1:c.T152C:p.V51A 0.79 0.8 0.72 0.87 0.71 0.83 0.7357 0.7915 0.7838 0.8598 0.7104 0.6905 0.7195 0.7963 0.72 0.79 0.68 0.66 0.77 rs10410943 COSM4132823 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7361 0.7889 0.7760 0.7146 0.8609 0.7135 0.6868 0.7232 0.801 0.7237 0.7853 0.7673 0.6656 0.8529 0.7289 0.6723 0.7096 het 911.82 108 19 8808900 . A G 911.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.013;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7037;MQ=59.05;MQ0=0;MQRankSum=-0.261;QD=8.44;ReadPosRankSum=-0.241;VQSLOD=6.1651;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,38:108:99:942,0,1751 19 8808942 8808942 A G exonic ACTL9 nonsynonymous SNV ACTL9:NM_178525:exon1:c.T110C:p.F37S 0.79 0.8 0.72 0.87 0.71 0.83 0.7357 0.7902 0.7839 0.8608 0.7101 0.6904 0.7167 0.7963 0.72 0.79 0.68 0.65 0.73 rs2340550 COSM4132824 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7360 0.7881 0.7760 0.7148 0.8609 0.7136 0.6865 0.7230 0.8010 0.7242 0.7859 0.7673 0.6656 0.8525 0.7292 0.6730 0.7082 het 1150.79 104 19 8808942 . A G 1150.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.857;DP=104;Dels=0.00;FS=0.786;HRun=4;HaplotypeScore=8.3186;MQ=59.38;MQ0=0;MQRankSum=0.450;QD=11.07;ReadPosRankSum=2.210;VQSLOD=3.2486;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,45:104:99:1181,0,1431 19 8841558 8841558 T C exonic OR2Z1 synonymous SNV OR2Z1:NM_001004699:exon1:c.T168C:p.H56H 0.64 0.97 0.62 0.46 0.61 0.43 0.6119 0.9241 0.6251 0.4832 0.6442 0.6169 0.6333 0.4387 0.73 0.91 0.63 0.61 0.48 rs28324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6140 0.9288 0.6363 0.6530 0.4858 0.6472 0.6212 0.6335 0.4391 0.7052 0.9264 0.6579 0.6367 0.4825 0.6404 0.6236 0.6418 het 2169.83 202 19 8841558 . T C 2169.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.782;DP=202;Dels=0.00;FS=1.799;HRun=0;HaplotypeScore=5.1538;MQ=59.23;MQ0=0;MQRankSum=-0.422;QD=10.74;ReadPosRankSum=-0.055;VQSLOD=5.3842;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:118,84:202:99:2200,0,3128 19 8953801 8953801 T C exonic MBD3L1 synonymous SNV MBD3L1:NM_145208:exon1:c.T447C:p.V149V 0.91 0.91 0.86 0.91 0.93 0.94 0.9224 0.9087 0.8502 0.9024 0.9286 0.9334 0.9389 0.9429 0.92 0.91 0.93 0.89 0.92 rs2969292 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9194 0.9037 0.8535 0.9585 0.9048 0.9310 0.9307 0.9213 0.9447 0.9200 0.9117 0.8842 0.9437 0.8884 0.9316 0.9275 0.9141 het 761 51 19 8953801 . T C 761 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.997;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=-0.691;QD=14.92;ReadPosRankSum=-0.842;VQSLOD=6.9606;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,28:51:99:791,0,685 19 8953922 8953922 C T exonic MBD3L1 nonsynonymous SNV MBD3L1:NM_145208:exon1:c.C568T:p.R190C 0.89 0.85 0.85 0.9 0.93 0.92 0.9148 0.8522 0.8446 0.8991 0.9297 0.9329 0.9311 0.9303 0.9 0.85 0.93 0.86 0.9 rs2972588 . . . . . . . . . . . . . 0.052 0.390 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.755 0.017 N 0.87 0.464 T -0.16 0.095 N 0.066 0.052 -1.036 0.186 T 0.000 0.000 T . . . 0.524 0.144 7.609 0.792 0.122 0.002 0.010 N c -2.032 -2.110 0.707 0.228 0.487 0.133 0 -7.66 0.011 -1.189 0.031 -1.263 0.014 0.000 0.063 0.000 0.016 5.359 0.153 . . . 0.9118 0.8435 0.8470 0.9553 0.8990 0.9305 0.9291 0.9171 0.9323 0.9027 0.8524 0.8747 0.9437 0.8868 0.9317 0.9271 0.9110 het 450.83 34 19 8953922 . C T 450.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.474;DP=34;Dels=0.00;FS=3.703;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.694;QD=13.26;ReadPosRankSum=-0.936;VQSLOD=6.1573;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,19:34:99:481,0,367 19 8961981 8961981 C G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon83:c.G43396C:p.V14466L 0.91 0.91 0.86 0.91 0.92 0.94 0.9214 0.9079 0.8493 0.9033 0.9188 0.9330 0.9389 0.9427 0.93 0.92 0.93 0.89 . rs1035442 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 4.75 0.016 T 1.81 0.005 N 0.015 0.025 -1.009 0.273 T 0.000 0.000 T . . . -0.119 0.083 1.593 0.101 0.001 0.001 0.007 N c -1.829 -1.704 0.000 0.012 0.554 0.283 0 -0.191 0.125 0.233 0.176 -0.302 0.080 0.225 0.244 0.696 0.308 0.997 0.014 . . . 0.9185 0.9036 0.8538 0.9586 0.9053 0.9218 0.9305 0.9207 0.9449 0.9188 0.9122 0.8840 0.9470 0.8879 0.9238 0.9268 0.9112 het 908.45 66 19 8961981 . C G 908.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.934;DP=66;Dels=0.00;FS=3.159;HRun=0;HaplotypeScore=5.2918;MQ=58.37;MQ0=0;MQRankSum=0.431;QD=13.76;ReadPosRankSum=0.522;VQSLOD=4.8436;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:36,30:66:99:938,0,1086 19 9001833 9001833 A G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon53:c.T40415C:p.M13472T 0.6 0.38 0.72 0.61 0.72 0.67 0.6787 0.4358 0.6937 0.6102 0.6977 0.7195 0.6826 0.6764 0.65 0.47 0.73 . . rs12976122 COSM3757454;COSM3757453 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.076 0.227 B 0.067 0.261 B . . . 1 0.090 P . . . 1.48 0.317 T 2.33 0.003 N 0.007 0.080 -0.996 0.309 T 0.000 0.000 T . . . -0.741 0.043 0.058 0.289 0.015 0.000 0.001 N c -0.286 -0.740 0.000 0.012 0.487 0.133 0 -0.090 0.129 -0.170 0.098 -0.337 0.073 0.000 0.063 0.000 0.016 3.938 0.087 SEA domain . . 0.6868 0.4329 0.7093 0.7402 0.6107 0.7072 0.7211 0.6970 0.6736 0.6303 0.4328 0.7010 0.7347 0.5712 0.7074 0.7242 0.6906 het 257.35 32 19 9001833 . A G 257.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.044;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=57.95;MQ0=0;MQRankSum=-0.603;QD=8.04;ReadPosRankSum=0.564;VQSLOD=5.3852;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:287,0,542 19 9001835 9001835 G A exonic MUC16 synonymous SNV MUC16:NM_024690:exon53:c.C40413T:p.P13471P 0.6 0.38 0.72 0.61 0.72 0.67 0.6788 0.4361 0.6937 0.6109 0.6977 0.7195 0.6826 0.6764 0.65 0.47 0.73 . . rs12985778 COSM3757455;COSM3757456 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6868 0.4326 0.7093 0.7402 0.6110 0.7071 0.7209 0.6971 0.6737 0.6367 0.4432 0.7027 0.7347 0.5784 0.7099 0.7270 0.6988 het 255.75 34 19 9001835 . G A 255.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.901;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.07;MQ0=0;MQRankSum=0.378;QD=7.52;ReadPosRankSum=0.631;VQSLOD=6.0121;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,12:34:99:286,0,625 19 9003618 9003618 C T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon49:c.G40022A:p.R13341H 0.62 0.46 0.73 0.61 0.72 0.67 0.6923 0.5095 0.7141 0.6243 0.7044 0.7275 0.6882 0.6740 0.68 0.55 0.74 0.54 . rs11085776 COSM3757457;COSM3757458 1(large_intestine) . . . . . . . . . . . 0.239 0.177 T 0.229 0.288 B 0.044 0.230 B . . . 1 0.090 P . . . 1.57 0.293 T 3.34 0.001 N 0.046 0.026 -1.102 0.039 T 0.000 0.000 T . . . -0.451 0.058 0.291 0.836 0.143 0.001 0.009 N c -2.216 -2.428 0.433 0.204 0.554 0.246 0 -6.47 0.017 -3.985 0.004 -3.385 0.001 0.000 0.063 0.000 0.016 10.886 0.460 SEA domain . . 0.6980 0.5093 0.7201 0.7420 0.6172 0.7118 0.7296 0.7040 0.6729 0.6755 0.5486 0.7174 0.7467 0.5991 0.7082 0.7382 0.7170 het 3223.06 250 19 9003618 . C T 3223.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.658;DP=250;DS;Dels=0.00;FS=0.978;HRun=0;HaplotypeScore=8.0142;MQ=58.83;MQ0=0;MQRankSum=0.627;QD=12.89;ReadPosRankSum=-1.046;VQSLOD=3.9644;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:3253,0,3573 19 9005674 9005674 G A exonic MUC16 synonymous SNV MUC16:NM_024690:exon46:c.C39732T:p.D13244D 0.22 0.15 0.29 0.22 0.28 0.2 0.2636 0.1887 0.2599 0.2204 0.2284 0.2946 0.2635 0.2206 0.26 0.19 0.3 0.22 . rs4804091 COSM3757462;COSM3757461 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2659 0.1866 0.2666 0.3418 0.2181 0.2267 0.2984 0.2875 0.2157 0.2396 0.1844 0.2332 0.37 0.2158 0.2156 0.2775 0.2433 het 2269.96 156 19 9005674 . G A 2269.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.156;DP=156;DS;Dels=0.00;FS=3.180;HRun=0;HaplotypeScore=9.6283;MQ=58.70;MQ0=0;MQRankSum=-0.560;QD=14.55;ReadPosRankSum=1.577;VQSLOD=3.0676;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,84:156:99:2300,0,1955 19 9005719 9005719 A G exonic MUC16 synonymous SNV MUC16:NM_024690:exon46:c.T39687C:p.D13229D 0.73 0.7 0.81 0.74 0.72 0.73 0.7382 0.7179 0.8079 0.7473 0.7085 0.7322 0.7182 0.7333 0.74 0.73 0.75 0.69 . rs4804375 COSM3757463;COSM3757464 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7402 0.7167 0.8072 0.7499 0.7443 0.7150 0.7321 0.7323 0.7217 0.7478 0.7437 0.8100 0.7583 0.7373 0.7356 0.7511 0.7389 het 1419.20 98 19 9005719 . A G 1419.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.422;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.8134;MQ=58.65;MQ0=0;MQRankSum=0.365;QD=14.48;ReadPosRankSum=-0.906;VQSLOD=4.1701;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,50:98:99:1449,0,1240 19 9014551 9014551 T C exonic MUC16 synonymous SNV MUC16:NM_024690:exon31:c.A38424G:p.R12808R 0.31 0.21 0.35 0.31 0.38 0.36 0.3577 0.2209 0.3814 0.2965 0.4190 0.3762 0.3797 0.3537 0.29 0.19 0.34 0.24 . rs12459127 COSM3757467 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3583 0.2151 0.3743 0.3277 0.3033 0.4158 0.3744 0.3714 0.3511 0.3334 0.2066 0.3973 0.31 0.2991 0.4209 0.3845 0.3799 hom 6199.64 197 19 9014551 . T C 6199.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.119;DP=197;DS;Dels=0.00;FS=4.091;HRun=1;HaplotypeScore=2.9312;MQ=47.03;MQ0=4;MQRankSum=-0.217;QD=31.47;ReadPosRankSum=0.866;VQSLOD=3.5018;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,196:197:99:6165,462,0 19 9019605 9019605 C G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon22:c.G37541C:p.S12514T 0.65 0.61 0.58 0.52 0.79 0.75 0.7150 0.6371 0.5949 0.4758 0.7182 0.7635 0.7278 0.7721 0.73 0.67 0.76 0.66 . rs12981679 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 1.21 0.372 T 1.18 0.011 N 0.02 0.004 -1.037 0.183 T 0.000 0.000 T . . . 0.674 0.158 8.657 0.509 0.044 0.000 0.001 N c -1.024 -1.117 0.000 0.029 0.487 0.133 0 1.43 0.215 0.345 0.196 -0.533 0.049 0.035 0.205 0.087 0.184 5.58 0.164 . . . 0.7122 0.6336 0.6001 0.8257 0.4757 0.7303 0.7607 0.7444 0.7753 0.7465 0.7112 0.7101 0.82 0.6010 0.7669 0.7729 0.7633 hom 5299.44 173 19 9019605 . C G 5299.44 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.5224;MQ=58.91;MQ0=0;QD=30.63;VQSLOD=4.9204;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5299,400,0 19 9020154 9020154 A G exonic MUC16 synonymous SNV MUC16:NM_024690:exon21:c.T37341C:p.S12447S 0.45 0.41 0.54 0.46 0.4 0.46 0.4251 0.4063 0.6003 0.4768 0.3674 0.3871 0.4556 0.4620 0.38 0.39 0.38 0.38 . rs11882881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4307 0.4067 0.5774 0.3773 0.4890 0.3772 0.3867 0.4296 0.4653 0.4015 0.4013 0.5467 0.3907 0.5087 0.3748 0.3883 0.4037 het 2384.79 165 19 9020154 . A G 2384.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.380;DP=165;DS;Dels=0.00;FS=0.951;HRun=1;HaplotypeScore=2.8888;MQ=59.17;MQ0=0;MQRankSum=-1.693;QD=14.45;ReadPosRankSum=-0.577;VQSLOD=4.8135;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,84:165:99:2415,0,2439 19 9024994 9024994 C T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon16:c.G36868A:p.E12290K 0.3 0.22 0.29 0.24 0.4 0.39 0.3414 0.2455 0.2671 0.2833 0.2982 0.3603 0.3551 0.4234 0.34 0.25 0.38 0.29 . rs67631215 COSM148476 1(NS);1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . 0.044 0.410 D 0.009 0.139 B 0.013 0.154 B . . . 1 0.090 P 2.015 0.552 M 0.94 0.437 T -1.33 0.332 N 0.022 0.005 -0.971 0.370 T 0.000 0.000 T . . . 2.710 0.387 20.9 0.717 0.094 0.031 0.080 N c -1.166 -1.245 0.000 0.029 0.554 0.246 0 1.51 0.220 -0.732 0.050 -0.493 0.052 0.000 0.063 0.001 0.043 5.630 0.167 SEA domain ENSG00000196110.3 Lung 0.3392 0.2437 0.2762 0.2966 0.2750 0.2955 0.3729 0.3252 0.4168 0.2891 0.2291 0.2650 0.2748 0.2359 0.2722 0.3339 0.3102 het 1839.94 110 19 9024994 . C T 1839.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.651;DP=110;DS;Dels=0.00;FS=5.550;HRun=1;HaplotypeScore=2.5900;MQ=59.24;MQ0=0;MQRankSum=0.297;QD=16.73;ReadPosRankSum=-0.193;VQSLOD=5.0456;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,62:110:99:1870,0,1114 19 9028373 9028373 G A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon11:c.C36419T:p.T12140M 0.21 0.054 0.21 0.24 0.34 0.28 0.2647 0.0985 0.1792 0.2623 0.2543 0.3031 0.2544 0.2741 0.25 0.1 0.32 0.22 . rs56396897 COSM4416764 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . 0.075 0.344 T 1.0 0.899 D 0.998 0.875 D . . . 1.000 0.090 P . . . 1.07 0.396 T -4.39 0.772 D 0.117 0.129 -1.035 0.188 T 0.000 0.000 T . . . 3.265 0.451 22.8 0.781 0.117 0.729 0.354 D c 0.186 0.013 0.000 0.029 0.554 0.246 0 2.63 0.303 2.533 0.451 0.752 0.309 0.993 0.376 0.007 0.100 8.891 0.344 SEA domain . . 0.2638 0.0945 0.1918 0.2172 0.2527 0.2486 0.3153 0.2537 0.2756 0.2292 0.0953 0.1921 0.1967 0.2357 0.2596 0.2991 0.2770 het 2819.60 203 19 9028373 . G A 2819.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.530;DP=203;DS;Dels=0.00;FS=3.549;HRun=0;HaplotypeScore=9.6006;MQ=58.99;MQ0=0;MQRankSum=0.889;QD=13.89;ReadPosRankSum=0.556;VQSLOD=4.1605;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,109:203:99:2850,0,2543 19 9047267 9047267 C T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon5:c.G34364A:p.G11455D 0.19 0.2 0.2 0.026 0.28 0.24 0.2585 0.2002 0.1400 0.0226 0.2691 0.3151 0.2567 0.2665 0.26 0.19 0.3 0.28 . rs10410169 . . . . . . . . . . . . . 0.119 0.280 T 0.536 0.360 P 0.297 0.392 B . . . 1 0.090 P 0.205 0.094 N 3.54 0.048 T -3.95 0.734 D 0.089 0.086 -0.896 0.484 T 0.000 0.000 T . . . 0.532 0.145 7.675 0.434 0.032 0.008 0.033 N c -0.721 -0.872 0.000 0.052 0.487 0.133 0 0.877 0.182 -0.537 0.062 0.788 0.318 0.000 0.063 0.008 0.104 5.024 0.136 . . . 0.2542 0.1940 0.1543 0.3947 0.0200 0.2647 0.3090 0.2841 0.2678 0.2565 0.1995 0.1806 0.3940 0.0186 0.2719 0.3114 0.2863 het 2444.66 182 19 9047267 . C T 2444.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.920;DP=182;Dels=0.00;FS=6.298;HRun=0;HaplotypeScore=3.6414;MQ=58.80;MQ0=0;MQRankSum=2.212;QD=13.43;ReadPosRankSum=0.982;VQSLOD=4.4831;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,91:182:99:2475,0,2635 19 9047305 9047305 G A exonic MUC16 synonymous SNV MUC16:NM_024690:exon5:c.C34326T:p.H11442H 0.18 0.18 0.19 0.026 0.28 0.24 0.2572 0.1846 0.1395 0.0226 0.2691 0.3151 0.2533 0.2665 0.26 0.17 0.3 0.26 . rs10415818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2532 0.1792 0.1538 0.3949 0.0199 0.2648 0.3090 0.2839 0.2677 0.2518 0.1833 0.1814 0.3940 0.0186 0.2719 0.3111 0.2853 het 2305.36 186 19 9047305 . G A 2305.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.426;DP=186;Dels=0.00;FS=11.263;HRun=0;HaplotypeScore=5.9438;MQ=59.73;MQ0=0;MQRankSum=-0.870;QD=12.39;ReadPosRankSum=-0.515;VQSLOD=3.6695;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,89:186:99:2335,0,2686 19 9048035 9048035 G C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon5:c.C33596G:p.A11199G 0.19 0.2 0.2 0.026 0.28 0.24 0.2582 0.2006 0.1401 0.0227 0.2685 0.3145 0.2562 0.2665 0.27 0.19 0.3 0.28 . rs10417358 COSM4999406;COSM4999405 1(pancreas) . . . . . . . . . . . 0.148 0.248 T 0.478 0.348 P 0.351 0.411 B . . . 1 0.090 P 0 0.065 N 4.17 0.028 T -1.41 0.348 N 0.078 0.069 -0.869 0.506 T 0.000 0.000 T . . . 0.620 0.153 8.293 0.420 0.030 0.094 0.150 N c -0.657 -0.762 0.000 0.029 0.554 0.246 0 1.44 0.215 0.673 0.247 0.880 0.385 0.002 0.151 0.001 0.043 5.691 0.170 . . . 0.2536 0.1938 0.1540 0.3944 0.0198 0.2644 0.3081 0.2834 0.2676 0.2561 0.1995 0.1802 0.39 0.0179 0.2721 0.3107 0.2863 het 694.08 50 19 9048035 . G C 694.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.029;DP=50;Dels=0.00;FS=4.093;HRun=1;HaplotypeScore=3.9831;MQ=59.13;MQ0=0;MQRankSum=1.252;QD=13.88;ReadPosRankSum=0.884;VQSLOD=5.1537;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:724,0,655 19 9048170 9048170 G A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon5:c.C33461T:p.S11154F 0.19 0.2 0.2 0.026 0.28 0.24 0.2585 0.2002 0.1402 0.0226 0.2691 0.3151 0.2567 0.2665 0.27 0.2 0.3 0.28 . rs10417600 COSM4999098;COSM4999099 1(bone);1(pancreas) . . . . . . . . . . . 0.254 0.169 T 0.999 0.764 D 0.991 0.782 D . . . 1 0.090 P 0.895 0.225 L 4.18 0.028 T -2.97 0.618 D 0.146 0.172 -0.900 0.480 T 0.000 0.000 T . . . 2.001 0.301 16.22 0.634 0.070 0.047 0.103 N c -0.172 -0.421 0.000 0.041 0.554 0.246 0 2.39 0.284 1.595 0.361 0.932 0.445 0.014 0.188 0.003 0.074 6.589 0.217 . . . 0.2540 0.1941 0.1544 0.3945 0.0200 0.2648 0.3086 0.2837 0.2678 0.2560 0.1993 0.1823 0.3940 0.0185 0.2715 0.3104 0.2867 het 1844.22 127 19 9048170 . G A 1844.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.980;DP=127;Dels=0.00;FS=3.307;HRun=1;HaplotypeScore=2.6912;MQ=59.52;MQ0=0;MQRankSum=0.911;QD=14.52;ReadPosRankSum=-1.680;VQSLOD=5.0860;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,68:127:99:1874,0,1554 19 9048342 9048342 C T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon5:c.G33289A:p.V11097M 0.44 0.41 0.41 0.5 0.42 0.46 0.4104 0.4106 0.4329 0.5209 0.3360 0.3869 0.4033 0.4618 0.4 0.4 0.4 0.43 . rs10854118 COSM148477;COSM148478 1(stomach) . . . . . . . . . . . 0.067 0.359 T 0.006 0.126 B 0.009 0.133 B . . . 1 0.090 P 0.55 0.145 N 4.14 0.029 T -0.75 0.210 N 0.009 0.001 -0.957 0.397 T 0.000 0.000 T . . . -0.201 0.076 1.092 0.187 0.006 0.000 0.003 N c -1.358 -1.450 0.000 0.029 0.487 0.133 0 -0.543 0.112 -3.585 0.005 -0.758 0.034 0.000 0.063 0.000 0.016 2.210 0.037 . . . 0.4120 0.4088 0.4260 0.3320 0.5223 0.3364 0.3998 0.3774 0.4671 0.3920 0.4044 0.4137 0.2919 0.5205 0.3390 0.3843 0.3913 het 2113.33 151 19 9048342 . C T 2113.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.835;DP=151;Dels=0.00;FS=3.827;HRun=1;HaplotypeScore=7.8824;MQ=59.42;MQ0=0;MQRankSum=-0.203;QD=14.00;ReadPosRankSum=-0.303;VQSLOD=4.3701;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,78:151:99:2143,0,2182 19 9049149 9049149 G A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon5:c.C32482T:p.P10828S 0.2 0.2 0.27 0.026 0.28 0.24 0.2657 0.2012 0.2131 0.0226 0.2691 0.3152 0.2622 0.2665 0.27 0.19 0.3 0.28 . rs12461007 . . . . . . . . . . . . . 0.964 0.021 T 0.041 0.200 B 0.014 0.158 B . . . 1 0.090 P 0.55 0.145 N 4.04 0.032 T -0.53 0.164 N 0.053 0.035 -0.882 0.496 T 0.000 0.000 T . . . -1.294 0.022 0.005 0.221 0.009 0.006 0.027 N c -1.568 -1.676 0.019 0.132 0.487 0.133 0 -5.99 0.020 0.564 0.231 -0.530 0.049 0.025 0.199 0.002 0.062 6.055 0.189 . . . 0.2640 0.1951 0.2246 0.3946 0.0199 0.2648 0.3088 0.2931 0.2678 0.2580 0.1996 0.2351 0.3940 0.0185 0.2719 0.3111 0.2892 het 4228.42 244 19 9049149 . G A 4228.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.818;DP=244;Dels=0.00;FS=6.197;HRun=1;HaplotypeScore=6.7276;MQ=59.56;MQ0=0;MQRankSum=1.903;QD=17.33;ReadPosRankSum=-1.100;VQSLOD=3.5736;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:117,127:244:99:3584,0,3221 19 9049339 9049339 C G exonic MUC16 synonymous SNV MUC16:NM_024690:exon5:c.G32292C:p.T10764T 0.4 0.3 0.55 0.36 0.45 0.4 0.4596 0.3196 0.5329 0.3332 0.4759 0.4958 0.4511 0.4051 0.43 0.31 0.49 0.37 . rs11883220 COSM4415441;COSM4415442 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4637 0.3183 0.5361 0.5668 0.3300 0.4766 0.4869 0.4861 0.4015 0.4359 0.3252 0.5072 0.5967 0.3327 0.4768 0.4928 0.4613 het 3016.74 195 19 9049339 . C G 3016.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.080;DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9900;MQ=59.45;MQ0=0;MQRankSum=0.864;QD=15.47;ReadPosRankSum=0.315;VQSLOD=5.6043;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,103:195:99:3047,0,2458 19 9049396 9049396 C G exonic MUC16 synonymous SNV MUC16:NM_024690:exon5:c.G32235C:p.G10745G 0.19 0.16 0.26 0.026 0.28 0.24 0.2629 0.1678 0.2123 0.0226 0.2691 0.3152 0.2589 0.2665 0.26 0.16 0.3 0.26 . rs10425044 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2616 0.1633 0.2234 0.3942 0.0199 0.2645 0.3087 0.2914 0.2675 0.2481 0.1649 0.2351 0.3940 0.0185 0.2715 0.3109 0.2878 het 4171.59 249 19 9049396 . C G 4171.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.412;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3685;MQ=59.00;MQ0=0;MQRankSum=-1.465;QD=16.75;ReadPosRankSum=-0.226;VQSLOD=3.2790;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:130,119:249:99:3509,0,3723 19 9049726 9049726 G A exonic MUC16 synonymous SNV MUC16:NM_024690:exon5:c.C31905T:p.D10635D 0.25 0.16 0.22 0.24 0.34 0.32 0.2873 0.1774 0.2209 0.2578 0.2700 0.3106 0.2856 0.3269 0.28 0.18 0.32 0.21 . rs11670328 COSM4417701;COSM4417702 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2875 0.1743 0.2245 0.2264 0.2662 0.2650 0.3235 0.2798 0.3313 0.2588 0.1728 0.2339 0.17 0.2809 0.2683 0.3050 0.2934 het 1614.92 119 19 9049726 . G A 1614.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.865;DP=119;Dels=0.00;FS=3.360;HRun=0;HaplotypeScore=12.7932;MQ=58.48;MQ0=0;MQRankSum=0.390;QD=13.57;ReadPosRankSum=0.821;VQSLOD=2.9503;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,56:119:99:1645,0,1652 19 9056930 9056930 T G exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.A30516C:p.T10172T 0.24 0.35 0.29 0.026 0.28 0.25 0.2781 0.3347 0.2215 0.0226 0.2690 0.3161 0.2689 0.2676 0.31 0.32 0.3 0.33 . rs918535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2742 0.3287 0.2338 0.3948 0.0200 0.2650 0.3097 0.3015 0.2686 0.2968 0.3341 0.2524 0.3933 0.0181 0.2721 0.3115 0.2953 het 1437.71 80 19 9056930 . T G 1437.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.565;DP=80;Dels=0.00;FS=1.863;HRun=1;HaplotypeScore=0.9989;MQ=59.42;MQ0=0;MQRankSum=-0.268;QD=17.97;ReadPosRankSum=-0.491;VQSLOD=6.1750;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,46:80:99:1468,0,868 19 9056941 9056941 A G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.T30505C:p.F10169L 0.19 0.18 0.27 0.026 0.28 0.25 0.2648 0.1865 0.2132 0.0227 0.2692 0.3155 0.26 0.2676 0.26 0.18 0.3 0.26 . rs10410136 . . . . . . . . . . . . . 0.601 0.056 T 0.006 0.126 B 0.002 0.063 B . . . 1 0.090 P -0.895 0.014 N 4.29 0.025 T 0.43 0.033 N 0.038 0.018 -0.930 0.442 T 0.000 0.000 T . . . 0.202 0.113 4.701 0.603 0.063 0.009 0.034 N c -1.242 -1.254 0.000 0.050 0.554 0.246 0 -0.497 0.114 0.144 0.158 0.031 0.150 0.000 0.063 0.132 0.200 5.587 0.165 . . . 0.2631 0.1810 0.2243 0.3949 0.0200 0.2650 0.3089 0.2932 0.2682 0.2536 0.1845 0.2356 0.3933 0.0181 0.2722 0.3109 0.2872 het 1313.85 80 19 9056941 . A G 1313.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.867;DP=80;Dels=0.00;FS=1.816;HRun=0;HaplotypeScore=0.9989;MQ=59.42;MQ0=0;MQRankSum=0.363;QD=16.42;ReadPosRankSum=0.808;VQSLOD=6.5036;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,44:80:99:1344,0,926 19 9056982 9056982 G A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.C30464T:p.T10155I 0.25 0.15 0.22 0.24 0.34 0.31 0.2867 0.1748 0.2205 0.2583 0.2699 0.3105 0.2851 0.3249 0.28 0.18 0.32 0.21 . rs11670318 COSM4417342;COSM4417343 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.002 0.721 D 0.997 0.689 D 0.918 0.636 D . . . 1 0.090 P 0.55 0.145 N 1.6 0.286 T -4.25 0.761 D 0.062 0.047 -0.974 0.363 T 0.000 0.000 T . . . -0.156 0.080 1.347 0.307 0.017 0.039 0.092 N c -0.443 -0.683 0.000 0.050 0.554 0.246 0 0.467 0.159 -0.173 0.098 0.883 0.387 0.000 0.063 0.004 0.083 5.071 0.138 . . . 0.2867 0.1718 0.2241 0.2257 0.2671 0.2650 0.3228 0.2789 0.3293 0.2562 0.1692 0.2291 0.1689 0.2772 0.2682 0.3030 0.2883 het 820.56 86 19 9056982 . G A 820.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.541;DP=86;Dels=0.00;FS=1.811;HRun=0;HaplotypeScore=1.5779;MQ=59.19;MQ0=0;MQRankSum=1.487;QD=9.54;ReadPosRankSum=0.103;VQSLOD=5.7450;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,36:86:99:851,0,1436 19 9057408 9057408 A G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.T30038C:p.L10013P 0.91 0.99 0.93 0.85 0.89 0.87 0.9046 0.9876 0.9200 0.8401 0.8552 0.9086 0.8811 0.8835 0.94 0.98 0.92 0.97 . rs1423051 COSM5438337;COSM5438338 1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . 2.25 0.178 T 2.84 0.002 N 0.023 0.006 -1.039 0.176 T 0.000 0.000 T . . . -0.146 0.080 1.413 0.406 0.029 0.000 0.002 N c -1.227 -1.362 0.000 0.060 0.487 0.133 0 -1.88 0.073 -0.320 0.080 -0.696 0.038 0.000 0.063 0.007 0.100 7.239 0.251 . . . 0.9034 0.9863 0.9199 0.9111 0.8407 0.8521 0.9118 0.8948 0.8855 0.9174 0.9851 0.9031 0.8907 0.8423 0.8531 0.9042 0.8910 hom 2805.18 81 19 9057408 . A G 2805.18 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=34.63;VQSLOD=9.5800;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2838,220,0 19 9057687 9057687 A G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.T29759C:p.I9920T 0.86 0.83 0.9 0.85 0.87 0.85 0.8719 0.8415 0.8981 0.8410 0.8115 0.8832 0.8533 0.8674 0.88 0.86 0.9 0.87 . rs1895364 COSM5438548;COSM5438549 1(oesophagus) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 4.61 0.019 T 3.9 0.001 N 0.013 0.002 -1.091 0.054 T 0.000 0.000 T . . . 0.006 0.094 2.642 0.452 0.035 0.000 0.002 N c -1.161 -1.275 0.000 0.050 0.554 0.246 0 0.023 0.134 -0.214 0.092 -0.389 0.064 0.000 0.063 0.000 0.016 2.292 0.039 . . . 0.8734 0.8383 0.8989 0.8984 0.8407 0.8133 0.8872 0.8611 0.8694 0.8591 0.8426 0.8795 0.8833 0.8427 0.8157 0.8793 0.8541 hom 7048.59 212 19 9057687 . A G 7048.59 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6766;MQ=59.26;MQ0=0;QD=33.25;VQSLOD=9.5585;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:7048,554,0 19 9057704 9057704 G T exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.C29742A:p.I9914I 0.21 0.24 0.22 0.026 0.31 0.25 0.2863 0.2404 0.1552 0.0226 0.2948 0.3526 0.28 0.2725 0.3 0.23 0.34 0.26 . rs12984130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2811 0.2363 0.1698 0.4497 0.0201 0.2904 0.3450 0.3187 0.2730 0.2907 0.2400 0.2005 0.4367 0.0181 0.2985 0.3481 0.3177 het 2407.43 189 19 9057704 . G T 2407.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.981;DP=189;DS;Dels=0.00;FS=0.565;HRun=1;HaplotypeScore=6.9596;MQ=59.17;MQ0=0;MQRankSum=0.379;QD=12.74;ReadPosRankSum=-0.957;VQSLOD=4.1188;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,90:189:99:2437,0,2770 19 9057721 9057721 C T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.G29725A:p.V9909I 0.44 0.29 0.49 0.56 0.47 0.47 0.4561 0.3044 0.5275 0.5527 0.4507 0.4534 0.4456 0.4593 0.42 0.3 0.47 0.29 . rs2216662 COSM3757474;COSM3757475 1(large_intestine) . . . . . . . . . . . 0.029 0.457 D 0.05 0.209 B 0.014 0.158 B . . . 1 0.090 P 0.805 0.203 L 4.3 0.025 T -0.08 0.082 N 0.038 0.018 -0.961 0.389 T 0.000 0.000 T . . . -0.147 0.080 1.407 0.319 0.018 0.006 0.026 N c -1.328 -1.478 0.012 0.123 0.554 0.246 0 -4.85 0.029 -1.141 0.033 -0.340 0.072 0.000 0.063 0.001 0.043 0.345 0.003 . . . 0.4620 0.3036 0.5225 0.3432 0.5620 0.4512 0.4647 0.4389 0.4592 0.4129 0.3025 0.4868 0.3245 0.5808 0.4471 0.4479 0.4287 het 2730.43 196 19 9057721 . C T 2730.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.964;DP=196;DS;Dels=0.00;FS=1.155;HRun=2;HaplotypeScore=7.7633;MQ=59.20;MQ0=0;MQRankSum=-0.554;QD=13.93;ReadPosRankSum=0.990;VQSLOD=4.5441;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,97:196:99:2760,0,2772 19 9057750 9057750 T A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A29696T:p.Y9899F 0.22 0.24 0.29 0.026 0.31 0.25 0.2936 0.2414 0.2285 0.0226 0.2948 0.3528 0.2856 0.2726 0.31 0.24 0.34 0.26 . rs12982113 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 4.22 0.027 T 0.54 0.028 N 0.029 0.010 -0.909 0.470 T 0.000 0.000 T . . . -0.560 0.052 0.156 0.214 0.008 0.002 0.012 N c -1.725 -1.769 0.000 0.054 0.487 0.133 0 -1.0 0.096 -0.511 0.064 -0.978 0.023 0.000 0.063 0.001 0.043 2.355 0.040 . . . 0.2910 0.2374 0.2403 0.4496 0.0201 0.2903 0.3450 0.3280 0.2730 0.2926 0.2414 0.2542 0.4433 0.0180 0.2987 0.3479 0.3207 het 2526.81 173 19 9057750 . T A 2526.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.344;DP=173;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.5674;MQ=59.34;MQ0=0;MQRankSum=0.399;QD=14.61;ReadPosRankSum=1.152;VQSLOD=4.9371;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,88:173:99:2557,0,2454 19 9057896 9057896 G C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.C29550G:p.D9850E 0.21 0.24 0.22 0.026 0.31 0.25 0.2864 0.2408 0.1551 0.0226 0.2948 0.3526 0.28 0.2726 0.3 0.23 0.34 0.26 . rs12984471 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.695 0.019 N 2.12 0.197 T 1.54 0.007 N 0.024 0.007 -0.924 0.450 T 0.000 0.000 T . . . 0.341 0.127 6.082 0.369 0.024 0.000 0.002 N c -1.529 -1.584 0.000 0.058 0.487 0.133 0 -1.59 0.080 -3.682 0.004 -0.485 0.053 0.000 0.063 0.000 0.016 4.200 0.099 . . . 0.2811 0.2366 0.1697 0.4495 0.0201 0.2903 0.3448 0.3188 0.2730 0.2908 0.2405 0.2014 0.4404 0.0182 0.2985 0.3474 0.3180 het 3106.46 248 19 9057896 . G C 3106.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.695;DP=248;Dels=0.00;FS=1.560;HRun=1;HaplotypeScore=1.9958;MQ=59.09;MQ0=0;MQRankSum=0.984;QD=12.53;ReadPosRankSum=1.336;VQSLOD=6.1932;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:128,120:248:99:3136,0,3413 19 9058907 9058907 G C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.C28539G:p.H9513Q 0.42 0.36 0.39 0.5 0.39 0.46 0.3838 0.3769 0.4221 0.5122 0.3101 0.3505 0.3844 0.4582 0.37 0.37 0.37 0.48 . rs1833777 . . . . . . . . . . . . . 0.25 0.171 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.145 0.044 N 1.77 0.258 T 1.12 0.012 N 0.024 0.007 -0.935 0.434 T 0.000 0.000 T . . . -1.124 0.028 0.009 0.337 0.020 0.002 0.012 N c -2.113 -2.219 0.834 0.247 0.487 0.133 0 -4.44 0.033 -2.845 0.008 -1.407 0.012 0.000 0.063 0.000 0.016 0.881 0.011 . . . 0.3866 0.3762 0.4159 0.2775 0.5136 0.3112 0.3646 0.3490 0.4641 0.3607 0.3707 0.4045 0.2417 0.5100 0.3119 0.3506 0.3583 het 2306.28 180 19 9058907 . G C 2306.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.487;DP=180;Dels=0.00;FS=0.626;HRun=1;HaplotypeScore=3.4445;MQ=59.41;MQ0=0;MQRankSum=0.368;QD=12.81;ReadPosRankSum=0.509;VQSLOD=6.2060;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,85:180:99:2336,0,2418 19 9058942 9058942 C T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.G28504A:p.A9502T 0.44 0.28 0.49 0.55 0.47 0.46 0.4557 0.3067 0.5279 0.5477 0.4508 0.4534 0.4467 0.4572 0.42 0.31 0.47 0.3 . rs1833778 COSM3757476;COSM3757477 1(large_intestine) . . . . . . . . . . . 0.833 0.029 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 2.17 0.190 T 2.25 0.003 N 0.008 0.000 -0.947 0.416 T 0.000 0.000 T . . . -0.249 0.072 0.861 0.152 0.004 0.000 0.002 N c -1.733 -1.915 0.949 0.278 0.487 0.133 0 -4.58 0.032 -2.302 0.012 -1.641 0.008 0.000 0.063 0.001 0.043 2.058 0.033 . . . 0.4620 0.3078 0.5239 0.3433 0.5581 0.4514 0.4647 0.4391 0.4573 0.4138 0.3062 0.4905 0.3245 0.5753 0.4475 0.4478 0.4296 het 2817.32 250 19 9058942 . C T 2817.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.602;DP=250;DS;Dels=0.00;FS=1.649;HRun=0;HaplotypeScore=4.7752;MQ=59.25;MQ0=0;MQRankSum=0.703;QD=11.27;ReadPosRankSum=1.619;VQSLOD=4.6826;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,113:250:99:2847,0,3638 19 9059232 9059232 T C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A28214G:p.Q9405R 0.18 0.15 0.21 0.0099 0.31 0.25 0.2784 0.1660 0.1507 0.0041 0.2950 0.3524 0.2806 0.2720 0.28 0.16 0.34 0.24 . rs12710265 COSM4132863;COSM4132862 1(thyroid) . . . . . . . . . . . 0.137 0.259 T 0.018 0.165 B 0.019 0.176 B . . . 1 0.090 P 0 0.065 N 1.98 0.219 T -1.34 0.334 N 0.072 0.061 -0.931 0.439 T 0.000 0.000 T . . . -0.720 0.044 0.065 0.469 0.037 0.017 0.052 N c -1.111 -1.203 0.000 0.050 0.554 0.246 0 -0.042 0.131 -0.307 0.081 0.741 0.308 0.000 0.063 0.015 0.124 4.400 0.107 . . . 0.2745 0.1609 0.1645 0.4495 0.0048 0.2903 0.3450 0.3138 0.2724 0.2682 0.1661 0.1933 0.4404 0.0037 0.2985 0.3465 0.3147 het 2744.80 228 19 9059232 . T C 2744.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.815;DP=228;DS;Dels=0.00;FS=0.490;HRun=1;HaplotypeScore=7.9719;MQ=59.29;MQ0=0;MQRankSum=2.319;QD=12.04;ReadPosRankSum=0.456;VQSLOD=4.1473;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,110:228:99:2775,0,3276 19 9059808 9059808 A G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.T27638C:p.I9213T 0.86 0.83 0.9 0.85 0.88 0.85 0.8726 0.8379 0.8995 0.8380 0.8113 0.8853 0.8544 0.8664 0.88 0.85 0.9 0.87 . rs7508222 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 2.19 0.187 T 3.48 0.001 N 0.016 0.003 -1.067 0.100 T 0.000 0.000 T . . . -0.709 0.044 0.069 0.357 0.022 0.001 0.004 N c -1.151 -1.263 0.000 0.069 0.487 0.133 0 -0.027 0.132 -0.591 0.058 -1.090 0.019 0.000 0.063 0.000 0.016 4.803 0.126 . . . 0.8743 0.8349 0.9008 0.8984 0.8387 0.8133 0.8895 0.8619 0.8683 0.8591 0.8392 0.8804 0.8841 0.8419 0.8157 0.8811 0.8554 hom 7876.72 240 19 9059808 . A G 7876.72 Mask AC=2;AF=1.00;AN=2;DP=240;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.4019;MQ=59.16;MQ0=0;QD=32.82;VQSLOD=4.5711;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,239:240:99:7876,608,0 19 9060059 9060059 A C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.T27387G:p.D9129E 0.18 0.14 0.21 0.0099 0.31 0.24 0.2776 0.1605 0.1502 0.0041 0.2944 0.3518 0.2796 0.2715 0.28 0.15 0.34 0.24 . rs12977368 . . . . . . . . . . . . . 1.0 0.010 T 0.736 0.409 P 0.444 0.441 B . . . 1 0.090 P 0.695 0.181 N 1.91 0.233 T -2.28 0.508 N 0.018 0.003 -0.954 0.403 T 0.000 0.000 T . . . -0.815 0.040 0.040 0.286 0.015 0.007 0.030 N c -1.068 -1.254 0.000 0.053 0.554 0.246 0 -1.19 0.090 -3.170 0.006 -3.078 0.001 0.000 0.063 0.000 0.016 2.993 0.056 . . . 0.2734 0.1547 0.1641 0.4462 0.0045 0.2900 0.3443 0.3126 0.2717 0.2668 0.1609 0.1918 0.4338 0.0031 0.2984 0.3470 0.3143 het 1134.15 91 19 9060059 . A C 1134.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.123;DP=91;Dels=0.00;FS=0.821;HRun=1;HaplotypeScore=5.7731;MQ=58.44;MQ0=0;MQRankSum=1.287;QD=12.46;ReadPosRankSum=-0.394;VQSLOD=4.4293;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,40:91:99:1164,0,1468 19 9060125 9060125 G A exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.C27321T:p.H9107H 0.21 0.26 0.21 0.0099 0.31 0.24 0.2853 0.2503 0.1536 0.0041 0.2947 0.3521 0.28 0.2716 0.31 0.24 0.34 0.27 . rs12972088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2798 0.2446 0.1675 0.4465 0.0045 0.2903 0.3446 0.3143 0.2718 0.2920 0.2489 0.1926 0.4367 0.0031 0.2987 0.3475 0.3166 het 1574.04 161 19 9060125 . G A 1574.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.980;DP=161;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5215;MQ=59.34;MQ0=0;MQRankSum=0.230;QD=9.78;ReadPosRankSum=-0.157;VQSLOD=5.5501;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,68:161:99:1604,0,2804 19 9060605 9060605 G A exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.C26841T:p.S8947S 0.86 0.83 0.9 0.85 0.88 0.85 0.8725 0.8375 0.8995 0.8372 0.8112 0.8854 0.8544 0.8664 0.88 0.85 0.9 0.87 . rs2194168 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8741 0.8345 0.9007 0.8984 0.8376 0.8131 0.8895 0.8617 0.8683 0.8588 0.8386 0.8807 0.8841 0.8365 0.8156 0.8815 0.8554 hom 8097.21 249 19 9060605 . G A 8097.21 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.18;MQ0=0;QD=32.52;VQSLOD=9.1682;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8096,665,0 19 9060656 9060656 C T exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.G26790A:p.E8930E 0.21 0.063 0.2 0.25 0.31 0.27 0.2521 0.0937 0.2067 0.2637 0.2446 0.2764 0.2544 0.2768 0.23 0.1 0.29 0.16 . rs2216663 COSM148479;COSM148480;COSM148481 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2538 0.0899 0.2100 0.1743 0.2699 0.24 0.2896 0.2468 0.2813 0.2121 0.0903 0.2076 0.1291 0.2797 0.2418 0.2687 0.2444 het 3200.89 250 19 9060656 . C T 3200.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.399;DP=250;DS;Dels=0.00;FS=0.975;HRun=1;HaplotypeScore=2.4167;MQ=59.07;MQ0=0;MQRankSum=0.119;QD=12.80;ReadPosRankSum=-0.508;VQSLOD=6.7227;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:137,113:250:99:3231,0,3886 19 9060812 9060812 T C exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.A26634G:p.S8878S 0.86 0.83 0.9 0.85 0.88 0.86 0.8728 0.8379 0.8995 0.8378 0.8112 0.8856 0.8544 0.8671 0.88 0.85 0.9 0.87 . rs1820099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8744 0.8348 0.9008 0.9014 0.8378 0.8131 0.8895 0.8621 0.8690 0.8589 0.8384 0.8807 0.8907 0.8356 0.8158 0.8816 0.8569 hom 5996.98 191 19 9060812 . T C 5996.98 Mask AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.56;MQ0=0;QD=31.40;VQSLOD=9.4375;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5996,508,0 19 9062415 9062415 T G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A25031C:p.D8344A 0.59 0.55 0.68 0.6 0.56 0.58 0.6042 0.5530 0.6858 0.5745 0.5667 0.6084 0.5911 0.5912 0.59 0.56 0.61 0.61 . rs12978757 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.55 0.024 N 1.99 0.217 T -0.01 0.072 N 0.036 0.016 -0.942 0.423 T 0.000 0.000 T . . . -0.901 0.036 0.026 0.321 0.018 0.000 0.002 N c -1.960 -2.015 0.057 0.151 0.487 0.133 0 -5.0 0.028 -0.385 0.074 -2.509 0.003 0.000 0.063 0.000 0.016 7.046 0.241 . . . 0.6069 0.5551 0.6807 0.7242 0.5683 0.5732 0.5992 0.6077 0.5886 0.5902 0.5524 0.6599 0.7533 0.5568 0.5736 0.6116 0.6010 het 2504.60 192 19 9062415 . T G 2504.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.224;DP=192;Dels=0.00;FS=3.306;HRun=1;HaplotypeScore=1.9279;MQ=59.69;MQ0=0;MQRankSum=-0.625;QD=13.04;ReadPosRankSum=0.170;VQSLOD=6.4795;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,100:192:99:2535,0,2525 19 9062544 9062544 T G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A24902C:p.N8301T 0.87 0.89 0.9 0.85 0.88 0.85 0.8769 0.8845 0.9033 0.8377 0.8112 0.8855 0.8544 0.8673 0.9 0.89 0.9 0.87 . rs2547063 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 2.34 0.164 T 1.82 0.005 N 0.024 0.007 -1.083 0.068 T 0.000 0.000 T . . . -0.660 0.047 0.089 0.736 0.100 0.001 0.004 N c -1.164 -1.258 0.000 0.050 0.554 0.246 0 0.406 0.155 -0.433 0.070 0.008 0.138 0.000 0.063 0.000 0.016 3.061 0.058 . . . 0.8778 0.8822 0.9038 0.8984 0.8381 0.8131 0.8897 0.8642 0.8691 0.8710 0.8811 0.8842 0.8841 0.8367 0.8157 0.8814 0.8579 hom 4085.67 124 19 9062544 . T G 4085.67 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8667;MQ=59.63;MQ0=0;QD=32.95;VQSLOD=9.6864;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:4085,319,0 19 9063678 9063678 T G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A23768C:p.D7923A 0.21 0.063 0.2 0.25 0.31 0.27 0.2524 0.0937 0.2060 0.2640 0.2446 0.2766 0.2533 0.2780 0.23 0.1 0.29 0.16 . rs2547064 COSM148484;COSM148482;COSM148483 1(haematopoietic_and_lymphoid_tissue);1(stomach);9(prostate) . . . . . . . . . . . 0.115 0.285 T 0.197 0.279 B 0.047 0.234 B . . . 1 0.090 P . . . 2.02 0.211 T -2.38 0.524 N 0.043 0.023 -0.946 0.417 T 0.000 0.000 T . . . -0.893 0.036 0.027 0.244 0.011 0.024 0.067 N c -1.384 -1.499 0.000 0.050 0.554 0.246 0 0.103 0.138 -0.906 0.041 -0.380 0.065 0.000 0.063 0.000 0.016 4.640 0.118 . . . 0.2540 0.0899 0.2099 0.1744 0.2698 0.2398 0.2900 0.2465 0.2816 0.2119 0.0902 0.2076 0.1291 0.2805 0.2423 0.2681 0.2444 het 2256.43 187 19 9063678 . T G 2256.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.729;DP=187;Dels=0.00;FS=1.141;HRun=1;HaplotypeScore=3.7875;MQ=59.33;MQ0=0;MQRankSum=0.354;QD=12.07;ReadPosRankSum=-1.330;VQSLOD=6.0903;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,84:187:99:2286,0,2691 19 9063935 9063935 G A exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.C23511T:p.S7837S 0.21 0.063 0.2 0.25 0.31 0.27 0.2525 0.0933 0.2068 0.2649 0.2446 0.2767 0.2533 0.2776 0.22 0.1 0.28 0.16 . rs2252675 COSM148486;COSM148485;COSM148487 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2538 0.0897 0.2102 0.1749 0.2698 0.2403 0.2895 0.2464 0.2812 0.2115 0.0897 0.2076 0.13 0.2787 0.2420 0.2679 0.2444 het 2116.82 144 19 9063935 . G A 2116.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.731;DP=144;Dels=0.00;FS=3.630;HRun=0;HaplotypeScore=3.6764;MQ=59.20;MQ0=0;MQRankSum=1.316;QD=14.70;ReadPosRankSum=-0.252;VQSLOD=5.4363;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,75:144:99:2147,0,1815 19 9065632 9065632 T C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A21814G:p.I7272V 0.22 0.08 0.21 0.25 0.31 0.27 0.2534 0.1081 0.2067 0.2646 0.2436 0.2765 0.2556 0.2768 0.23 0.12 0.29 0.17 . rs1867691 COSM4417535;COSM4417536;COSM4417534 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.446 0.091 T 0.001 0.067 B 0.004 0.093 B . . . 1 0.090 P 0 0.065 N 4.38 0.023 T 0.26 0.044 N 0.028 0.009 -0.909 0.469 T 0.000 0.000 T . . . -1.914 0.009 0.001 0.403 0.028 0.007 0.030 N c -1.558 -1.639 0.000 0.072 0.487 0.133 0 -2.74 0.056 -2.037 0.015 -0.578 0.045 0.000 0.063 0.000 0.016 0.917 0.012 . . . 0.2545 0.1041 0.2105 0.1742 0.2700 0.2396 0.2894 0.2469 0.2805 0.2161 0.1055 0.2091 0.1291 0.2801 0.2416 0.2679 0.2464 het 2913.20 250 19 9065632 . T C 2913.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.642;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0503;MQ=59.21;MQ0=0;MQRankSum=1.983;QD=11.65;ReadPosRankSum=0.321;VQSLOD=5.4806;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:2943,0,3700 19 9066259 9066259 T C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A21187G:p.T7063A 0.35 0.39 0.37 0.28 0.35 0.36 0.3639 0.3863 0.3418 0.2710 0.3244 0.3751 0.3586 0.3854 0.37 0.37 0.37 0.47 . rs17000770 COSM1129649;COSM1129651;COSM1129650 1(haematopoietic_and_lymphoid_tissue);8(prostate) . . . . . . . . . . . 0.007 0.599 D 0.673 0.393 P 0.533 0.468 P . . . 1 0.090 P 0.345 0.112 N 1.75 0.262 T -1.2 0.305 N 0.029 0.010 -0.927 0.446 T 0.000 0.000 T . . . -0.853 0.038 0.033 0.534 0.048 0.057 0.115 N c -0.606 -0.807 0.000 0.050 0.487 0.133 0 -0.117 0.128 0.463 0.215 -0.683 0.039 0.005 0.169 0.000 0.016 5.386 0.154 . . . 0.3635 0.3835 0.3457 0.5041 0.2641 0.3248 0.3699 0.3731 0.3866 0.3692 0.3846 0.3505 0.5033 0.2506 0.3265 0.3811 0.3709 het 1341.74 135 19 9066259 . T C 1341.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.171;DP=135;Dels=0.00;FS=1.477;HRun=1;HaplotypeScore=0.7340;MQ=59.31;MQ0=0;MQRankSum=-0.117;QD=9.94;ReadPosRankSum=-0.140;VQSLOD=6.7251;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,49:135:99:1372,0,2227 19 9068374 9068374 A G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.T19072C:p.S6358P 0.018 . 0.04 . 0.03 0.034 0.0286 0.0054 0.0330 0 0.0203 0.0303 0.0312 0.0504 0.022 0.0084 0.029 0.022 . rs61732552 COSM3757479;COSM3757480;COSM3757478 1(large_intestine) . . . . . . . . . . . 0.006 0.614 D 0.064 0.220 B 0.044 0.230 B . . . 1 0.090 N 0 0.065 N 4.19 0.027 T -0.54 0.166 N 0.032 0.012 -0.929 0.443 T 0.001 0.003 T . . . -1.533 0.016 0.002 0.185 0.006 0.004 0.022 N c -2.395 -2.484 0.918 0.265 0.487 0.133 0 -4.79 0.029 -2.772 0.008 -3.398 0.001 0.000 0.063 0.000 0.016 0.755 0.009 . . . 0.0283 0.0052 0.0337 0.0407 0 0.0187 0.0293 0.0310 0.0488 0.0196 0.0052 0.0346 0.0232 0.0006 0.0206 0.0285 0.0255 het 891.45 65 19 9068374 . A G 891.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.253;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.9480;MQ=58.54;MQ0=0;MQRankSum=-0.188;QD=13.71;ReadPosRankSum=0.416;VQSLOD=4.8275;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:31,33:65:99:921,0,798 19 9070194 9070194 A G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.T17252C:p.I5751T 0.94 1. 0.97 0.88 0.92 0.93 0.9312 0.9901 0.9748 0.8609 0.8585 0.9291 0.9111 0.9406 0.96 0.99 0.94 0.95 . rs1344572 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 3.17 0.076 T 0.74 0.020 N 0.054 0.036 -1.044 0.160 T 0.000 0.000 T . . . -0.678 0.046 0.081 0.275 0.014 0.000 0.001 N c -1.560 -1.574 0.000 0.050 0.554 0.246 0 0.669 0.170 -0.132 0.104 -1.697 0.008 0.000 0.063 0.000 0.016 4.215 0.099 . . . 0.9310 0.9903 0.9729 0.9391 0.8611 0.8537 0.9335 0.9284 0.9396 0.9345 0.9880 0.9594 0.9371 0.8529 0.8497 0.9322 0.9051 hom 6985.21 222 19 9070194 . A G 6985.21 Mask AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=59.38;MQ0=0;QD=31.46;VQSLOD=9.2658;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:6984,545,0 19 9070225 9070225 G C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.C17221G:p.H5741D 0.81 0.73 0.87 0.85 0.83 0.83 0.8281 0.7519 0.8754 0.8381 0.7748 0.8316 0.81 0.8431 0.82 0.76 0.85 0.79 . rs1559172 COSM3757481;COSM3757482;COSM3757483 1(large_intestine) . . . . . . . . . . . 0.943 0.022 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 2.04 0.208 T 0.89 0.016 N 0.057 0.040 -1.065 0.105 T 0.000 0.000 T . . . -0.985 0.033 0.017 0.394 0.027 0.000 0.003 N c -1.902 -1.941 0.000 0.052 0.487 0.133 0 -0.66 0.108 -0.553 0.061 -2.261 0.004 0.000 0.063 0.000 0.016 4.313 0.103 . . . 0.8324 0.7459 0.8753 0.8504 0.8382 0.7760 0.8375 0.8209 0.8442 0.8005 0.7451 0.8496 0.8344 0.8369 0.7733 0.8314 0.8051 hom 6239.88 180 19 9070225 . G C 6239.88 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5261;MQ=59.49;MQ0=0;QD=34.67;VQSLOD=9.0047;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:180:99:6239,494,0 19 9070402 9070402 G T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.C17044A:p.P5682T 0.16 0.11 0.25 0.0089 0.26 0.22 0.2454 0.1333 0.2021 0.0040 0.2576 0.2982 0.2461 0.2498 0.24 0.13 0.29 0.18 . rs12150888 COSM4998613;COSM4998611;COSM4998612 2(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.998 0.715 D 0.839 0.583 P . . . 1 0.090 P . . . 1.33 0.350 T 0.69 0.022 N 0.006 0.000 -1.074 0.086 T 0.000 0.000 T . . . -1.729 0.012 0.002 0.352 0.022 0.002 0.011 N c -0.984 -1.278 0.000 0.061 0.487 0.133 0 -2.48 0.060 -1.574 0.022 -0.160 0.107 0.000 0.063 0.000 0.016 0.903 0.012 . . . 0.2462 0.1258 0.2126 0.3982 0.0044 0.2529 0.2926 0.2837 0.2495 0.2279 0.1292 0.2201 0.3841 0.0037 0.2562 0.2977 0.2659 het 1222.98 106 19 9070402 . G T 1222.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.811;DP=106;Dels=0.00;FS=0.805;HRun=0;HaplotypeScore=1.8317;MQ=59.56;MQ0=0;MQRankSum=1.539;QD=11.54;ReadPosRankSum=-1.960;VQSLOD=5.8692;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,46:106:99:1253,0,1806 19 9070837 9070837 G A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.C16609T:p.P5537S 0.82 0.75 0.87 0.85 0.83 0.83 0.8296 0.7680 0.8761 0.8378 0.7745 0.8318 0.8144 0.8438 0.83 0.78 0.85 0.81 . rs2547067 . . . . . . . . . . . . . 0.915 0.023 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.905 0.002 N 4.04 0.032 T -0.06 0.079 N 0.037 0.017 -1.054 0.132 T 0.000 0.000 T . . . -0.806 0.040 0.042 0.241 0.011 0.000 0.002 N c -1.657 -1.701 0.000 0.069 0.487 0.133 0 -2.0 0.070 -0.269 0.086 -0.084 0.118 0.000 0.063 0.001 0.043 3.611 0.075 . . . 0.8337 0.7615 0.8760 0.8507 0.8380 0.7760 0.8378 0.8213 0.8450 0.8051 0.7614 0.8493 0.8344 0.8373 0.7731 0.8314 0.8057 hom 4933.28 163 19 9070837 . G A 4933.28 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9536;MQ=58.94;MQ0=0;QD=30.27;VQSLOD=9.2044;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:4933,406,0 19 9071562 9071562 C T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.G15884A:p.G5295E 0.017 . 0.037 . 0.03 0.03 0.0272 0.0053 0.0329 0 0.0201 0.0302 0.0311 0.0414 0.022 0.0087 0.029 0.022 . rs116866749 COSM3757486;COSM3757485;COSM3757484 1(large_intestine) . . . . . . . . . . . 0.036 0.433 D 0.041 0.200 B 0.004 0.093 B . . . 1 0.090 N 0.345 0.112 N 1.95 0.225 T -0.68 0.195 N 0.065 0.051 -1.001 0.297 T 0.006 0.019 T . . . -0.313 0.067 0.620 0.342 0.021 0.003 0.015 N c -1.345 -1.479 0.001 0.083 0.487 0.133 0 -3.88 0.039 -1.561 0.022 -0.939 0.025 0.000 0.063 0.000 0.016 0.438 0.004 . . . 0.0272 0.0052 0.0336 0.0418 0 0.0187 0.0291 0.0299 0.0403 0.0196 0.0052 0.0346 0.0233 0.0006 0.0206 0.0285 0.0255 het 1688.19 152 19 9071562 . C T 1688.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.492;DP=152;Dels=0.00;FS=1.300;HRun=1;HaplotypeScore=4.5048;MQ=59.09;MQ0=0;MQRankSum=0.953;QD=11.11;ReadPosRankSum=-0.139;VQSLOD=5.2321;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,66:152:99:1718,0,2511 19 9071763 9071763 T A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A15683T:p.N5228I 0.82 0.75 0.87 0.85 0.83 0.83 0.8296 0.7682 0.8760 0.8376 0.7746 0.8317 0.8144 0.8439 0.83 0.78 0.85 0.81 . rs10422567 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.805 0.016 N 4.24 0.026 T 0.31 0.040 N 0.023 0.006 -1.092 0.051 T 0.000 0.000 T . . . 0.052 0.099 3.100 0.482 0.039 0.000 0.003 N c -1.404 -1.476 0.000 0.050 0.487 0.133 0 0.647 0.169 -1.545 0.023 -0.221 0.097 0.000 0.063 0.004 0.083 1.508 0.023 . . . 0.8336 0.7616 0.8760 0.8505 0.8381 0.7761 0.8376 0.8211 0.8451 0.8055 0.7623 0.8493 0.8367 0.8357 0.7730 0.8316 0.8090 hom 5825.31 185 19 9071763 . T A 5825.31 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7716;MQ=58.85;MQ0=0;QD=31.49;VQSLOD=7.1519;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5824,472,0 19 9072296 9072296 G T exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.C15150A:p.T5050T 0.17 0.17 0.18 0.0089 0.26 0.22 0.2423 0.1783 0.1310 0.0040 0.2582 0.2984 0.2411 0.2495 0.25 0.17 0.29 0.18 . rs7254970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2393 0.1697 0.1440 0.3981 0.0044 0.2533 0.2928 0.2751 0.2486 0.2389 0.1730 0.1647 0.3841 0.0031 0.2557 0.2978 0.2663 het 1613.13 101 19 9072296 . G T 1613.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.503;DP=101;Dels=0.00;FS=1.836;HRun=1;HaplotypeScore=3.7711;MQ=59.13;MQ0=0;MQRankSum=1.784;QD=15.97;ReadPosRankSum=0.010;VQSLOD=5.6851;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,57:101:99:1643,0,1256 19 9072313 9072313 A G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.T15133C:p.S5045P 0.21 0.063 0.2 0.25 0.31 0.27 0.2527 0.0935 0.2070 0.2638 0.2449 0.2769 0.2544 0.2787 0.23 0.1 0.29 0.16 . rs2121133 COSM4416546;COSM4416548;COSM4416547 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.154 0.242 T 0.002 0.090 B 0.001 0.040 B . . . 1 0.090 P -0.205 0.041 N 1.58 0.291 T -0.79 0.219 N 0.032 0.012 -0.957 0.397 T 0.000 0.000 T . . . 0.023 0.096 2.806 0.422 0.031 0.001 0.004 N c -1.183 -1.330 0.001 0.075 0.554 0.246 0 -3.18 0.048 -0.322 0.080 -0.758 0.034 0.001 0.137 0.000 0.016 3.207 0.062 . . . 0.2543 0.0899 0.2101 0.1748 0.2694 0.2404 0.2903 0.2465 0.2824 0.2122 0.0899 0.2076 0.1291 0.2799 0.2418 0.2690 0.2449 het 941.45 81 19 9072313 . A G 941.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.537;DP=81;Dels=0.00;FS=3.404;HRun=2;HaplotypeScore=4.3959;MQ=58.33;MQ0=0;MQRankSum=0.919;QD=11.62;ReadPosRankSum=-0.249;VQSLOD=5.0176;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,33:81:99:971,0,1319 19 9072742 9072742 T C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A14704G:p.I4902V 0.21 0.063 0.2 0.25 0.31 0.27 0.2525 0.0935 0.2070 0.2630 0.2446 0.2767 0.2544 0.2782 0.22 0.1 0.29 0.16 . rs2591590 COSM148488;COSM148489;COSM148490 1(haematopoietic_and_lymphoid_tissue);1(stomach);9(prostate) . . . . . . . . . . . 0.048 0.400 D 0.078 0.229 B 0.138 0.318 B . . . 1 0.090 P 0 0.065 N 4.38 0.023 T -0.16 0.095 N 0.076 0.067 -0.912 0.466 T 0.000 0.000 T . . . 0.320 0.125 5.888 0.893 0.181 0.047 0.102 N c -0.837 -0.844 0.000 0.072 0.487 0.133 0 2.18 0.267 -0.236 0.089 0.817 0.335 0.000 0.063 0.008 0.104 6.347 0.204 . . . 0.2541 0.0898 0.2102 0.1745 0.2695 0.2399 0.2900 0.2466 0.2823 0.2116 0.0895 0.2076 0.13 0.2782 0.2418 0.2683 0.2423 het 2721.35 249 19 9072742 . T C 2721.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.042;DP=249;DS;Dels=0.00;FS=2.178;HRun=0;HaplotypeScore=7.7597;MQ=58.95;MQ0=0;MQRankSum=2.277;QD=10.93;ReadPosRankSum=-0.680;VQSLOD=4.1327;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:138,111:249:99:2751,0,3773 19 9074265 9074265 G A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.C13181T:p.T4394I 0.15 0.11 0.18 0.0089 0.26 0.22 0.2382 0.1322 0.1292 0.0039 0.2585 0.2982 0.24 0.2493 0.23 0.12 0.29 0.18 . rs10406209 COSM4999981;COSM4999983;COSM4999982 1(pancreas) . . . . . . . . . . . 0.013 0.538 D 0.871 0.459 P 0.18 0.342 B . . . 1 0.090 P 0 0.065 N 4.28 0.025 T -1.44 0.354 N 0.106 0.112 -0.861 0.512 T 0.000 0.000 T . . . -0.167 0.079 1.282 0.314 0.018 0.020 0.060 N c -0.815 -0.963 0.000 0.069 0.487 0.133 0 0.509 0.161 0.236 0.176 0.545 0.283 0.000 0.063 0.014 0.122 5.625 0.166 . . . 0.2362 0.1247 0.1425 0.3983 0.0044 0.2532 0.2927 0.2742 0.2486 0.2256 0.1281 0.1631 0.3841 0.0031 0.2559 0.2970 0.2648 het 2650.20 200 19 9074265 . G A 2650.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.325;DP=200;DS;Dels=0.00;FS=5.311;HRun=1;HaplotypeScore=4.2539;MQ=58.93;MQ0=0;MQRankSum=0.214;QD=13.25;ReadPosRankSum=0.234;VQSLOD=5.2979;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:104,96:200:99:2680,0,2859 19 9074950 9074950 G T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.C12496A:p.H4166N 0.24 0.16 0.21 0.25 0.31 0.27 0.2600 0.1799 0.2119 0.2629 0.2445 0.2768 0.2589 0.2781 0.25 0.18 0.29 0.22 . rs2591591 COSM4418766;COSM4418767 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.014 0.531 D 0.478 0.348 P 0.048 0.236 B . . . 1 0.090 P 0 0.065 N 2.03 0.210 T -1.69 0.402 N 0.027 0.009 -0.941 0.425 T 0.000 0.000 T . . . -0.413 0.061 0.359 0.517 0.045 0.024 0.068 N c -1.029 -1.179 0.000 0.061 0.554 0.246 0 -2.4 0.062 -0.814 0.046 -0.347 0.071 0.000 0.063 0.000 0.016 5.189 0.144 . . . 0.2605 0.1743 0.2160 0.1746 0.2693 0.2400 0.2904 0.2519 0.2824 0.2366 0.1762 0.2213 0.1291 0.2803 0.2417 0.2681 0.25 het 1849.01 157 19 9074950 . G T 1849.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.504;DP=157;Dels=0.00;FS=1.261;HRun=1;HaplotypeScore=2.8098;MQ=58.75;MQ0=0;MQRankSum=0.616;QD=11.78;ReadPosRankSum=1.753;VQSLOD=6.0355;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,70:157:99:1879,0,2524 19 9075217 9075217 T A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A12229T:p.T4077S 0.24 0.18 0.21 0.25 0.31 0.27 0.2619 0.2012 0.2126 0.2633 0.2446 0.2768 0.2589 0.2782 0.26 0.2 0.29 0.24 . rs2547068 . . . . . . . . . . . . . 0.08 0.335 T 0.376 0.324 B 0.148 0.324 B . . . 1 0.090 P 1.1 0.281 L 4.32 0.024 T -0.96 0.255 N 0.055 0.037 -0.908 0.471 T 0.000 0.000 T . . . -0.528 0.054 0.188 0.299 0.016 0.020 0.060 N c -0.859 -1.026 0.000 0.050 0.487 0.133 0 -0.161 0.127 -0.833 0.045 0.022 0.145 0.000 0.063 0.010 0.111 1.850 0.029 . . . 0.2620 0.1962 0.2166 0.1747 0.2695 0.2401 0.2904 0.2527 0.2825 0.2426 0.1966 0.2208 0.1291 0.2803 0.2420 0.2688 0.2454 het 1620.50 138 19 9075217 . T A 1620.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.265;DP=138;Dels=0.00;FS=8.488;HRun=0;HaplotypeScore=6.5910;MQ=59.39;MQ0=0;MQRankSum=0.707;QD=11.74;ReadPosRankSum=0.569;VQSLOD=4.2778;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,67:138:99:1650,0,1659 19 9075346 9075346 T A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A12100T:p.I4034F 0.44 0.41 0.47 0.26 0.58 0.5 0.5152 0.4205 0.4186 0.2675 0.5033 0.5752 0.5067 0.5313 0.54 0.45 0.59 0.43 . rs2591592 COSM4417925;COSM4417926 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.748 0.036 T 0.986 0.596 D 0.737 0.537 P . . . 1 0.090 P 0 0.065 N 4.19 0.027 T -0.5 0.158 N 0.076 0.067 -0.938 0.429 T 0.000 0.000 T . . . -0.002 0.093 2.569 0.282 0.014 0.024 0.066 N c -0.612 -0.873 0.000 0.053 0.487 0.133 0 -1.05 0.095 -0.774 0.048 -0.022 0.129 0.000 0.063 0.000 0.016 2.072 0.034 . . . 0.5147 0.4097 0.4331 0.5732 0.2744 0.4933 0.5832 0.5386 0.5347 0.4956 0.4132 0.4423 0.5132 0.2855 0.4974 0.5668 0.5185 hom 5486.70 177 19 9075346 . T A 5486.70 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=31.00;VQSLOD=8.9593;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:5486,427,0 19 9075584 9075584 T A exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.A11862T:p.T3954T 0.21 0.063 0.2 0.25 0.31 0.27 0.2534 0.0939 0.2075 0.2653 0.2458 0.2775 0.2545 0.2801 0.23 0.1 0.29 0.16 . rs2547069 COSM148492;COSM148491 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2539 0.0898 0.2100 0.1743 0.2692 0.2402 0.2896 0.2462 0.2825 0.2121 0.0901 0.2081 0.1291 0.2812 0.2418 0.2686 0.2444 het 340.89 38 19 9075584 . T A 340.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.710;DP=38;Dels=0.00;FS=1.371;HRun=0;HaplotypeScore=0.9995;MQ=58.85;MQ0=0;MQRankSum=-0.045;QD=8.97;ReadPosRankSum=0.711;VQSLOD=5.9616;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,14:38:99:371,0,727 19 9075635 9075635 G A exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.C11811T:p.S3937S 0.21 0.063 0.2 0.25 0.31 0.27 0.2532 0.0940 0.2078 0.2646 0.2451 0.2773 0.2574 0.2797 0.23 0.1 0.29 0.16 . rs2547070 COSM4419249;COSM4419250 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2536 0.0896 0.2098 0.1748 0.2690 0.2398 0.2894 0.2465 0.2817 0.2123 0.0901 0.2086 0.1291 0.2818 0.2418 0.2688 0.2449 het 259.02 28 19 9075635 . G A 259.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.787;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=58.43;MQ0=0;MQRankSum=0.859;QD=9.25;ReadPosRankSum=-0.766;VQSLOD=5.9137;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:289,0,456 19 9075737 9075737 T C exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.A11709G:p.V3903V 0.46 0.47 0.43 0.52 0.43 0.43 0.4200 0.4696 0.4487 0.5328 0.3370 0.3986 0.4099 0.4322 0.43 0.46 0.41 0.52 . rs2547071 COSM3757490;COSM3757491 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4197 0.4682 0.4421 0.3168 0.5301 0.3371 0.4117 0.3873 0.4362 0.4123 0.4648 0.4282 0.2815 0.5277 0.3360 0.3905 0.3918 het 777.92 52 19 9075737 . T C 777.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.980;DP=52;Dels=0.00;FS=2.803;HRun=0;HaplotypeScore=1.8614;MQ=58.83;MQ0=0;MQRankSum=-0.055;QD=14.96;ReadPosRankSum=-0.903;VQSLOD=5.8269;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,29:52:99:808,0,638 19 9075969 9075969 C T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.G11477A:p.G3826E 0.25 0.2 0.21 0.25 0.31 0.27 0.2629 0.2124 0.2132 0.2633 0.2445 0.2770 0.2595 0.2780 0.26 0.21 0.29 0.24 . rs2591593 COSM148493;COSM148494 1(stomach);1(haematopoietic_and_lymphoid_tissue);5(prostate);1(biliary_tract) . . . . . . . . . . . 0.0 0.912 D 0.628 0.382 P 0.087 0.281 B . . . 1 0.090 P 0 0.065 N 3.89 0.036 T -1.93 0.448 N 0.05 0.031 -0.891 0.489 T 0.000 0.000 T . . . 0.250 0.118 5.198 0.360 0.023 0.009 0.036 N c -0.993 -1.124 0.000 0.050 0.554 0.246 0 -0.571 0.111 0.026 0.134 0.520 0.281 0.000 0.063 0.061 0.171 4.029 0.091 . . . 0.2624 0.2075 0.2169 0.1740 0.2695 0.2398 0.2901 0.2523 0.2817 0.2462 0.2081 0.2225 0.1291 0.28 0.2420 0.2690 0.2520 het 4475.96 250 19 9075969 . C T 4475.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.056;DP=250;DS;Dels=0.00;FS=1.701;HRun=0;HaplotypeScore=2.4429;MQ=59.27;MQ0=0;MQRankSum=0.607;QD=17.90;ReadPosRankSum=-0.962;VQSLOD=5.9780;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:109,141:250:99:3846,0,3061 19 9076083 9076083 G A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.C11363T:p.T3788I 0.25 0.2 0.21 0.25 0.31 0.27 0.2629 0.2123 0.2128 0.2634 0.2445 0.2770 0.2590 0.2789 0.26 0.21 0.29 0.24 . rs2547072 COSM1398111;COSM1398110 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.0 0.912 D 0.087 0.234 B 0.069 0.263 B . . . 1 0.090 P 0 0.065 N 4.28 0.025 T -1.44 0.354 N 0.11 0.118 -0.904 0.476 T 0.000 0.000 T . . . -0.775 0.041 0.049 0.200 0.007 0.008 0.034 N c -1.281 -1.403 0.001 0.079 0.554 0.246 0 -3.8 0.040 0.018 0.132 -0.051 0.123 0.012 0.185 0.008 0.104 2.303 0.039 . . . 0.2625 0.2075 0.2171 0.1743 0.2693 0.2400 0.2901 0.2526 0.2822 0.2457 0.2075 0.2220 0.13 0.2793 0.2418 0.2686 0.2520 het 2818.96 226 19 9076083 . G A 2818.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.368;DP=226;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7987;MQ=59.18;MQ0=0;MQRankSum=-0.207;QD=12.47;ReadPosRankSum=-1.162;VQSLOD=6.4382;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,108:226:99:2849,0,3474 19 9076163 9076163 C T exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.G11283A:p.Q3761Q 0.25 0.2 0.21 0.25 0.31 0.27 0.2629 0.2123 0.2130 0.2638 0.2446 0.2769 0.2595 0.2784 0.26 0.21 0.29 0.24 . rs2547073 COSM4416528;COSM4416527 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2626 0.2076 0.2170 0.1746 0.2696 0.2401 0.2901 0.2528 0.2824 0.2460 0.2076 0.2220 0.1291 0.2812 0.2418 0.2689 0.2520 het 2425.47 166 19 9076163 . C T 2425.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.194;DP=166;Dels=0.00;FS=1.944;HRun=1;HaplotypeScore=2.7750;MQ=58.73;MQ0=0;MQRankSum=-1.481;QD=14.61;ReadPosRankSum=0.810;VQSLOD=5.0234;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,83:166:99:2455,0,2348 19 9076278 9076278 G A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.C11168T:p.T3723M 0.26 0.2 0.22 0.25 0.34 0.28 0.2808 0.2152 0.2190 0.2693 0.2815 0.3014 0.2889 0.2848 0.28 0.22 0.31 0.25 . rs953551 COSM1398116;COSM1398117 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.397 0.106 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 4.24 0.026 T 0.67 0.023 N 0.076 0.067 -0.914 0.464 T 0.000 0.000 T . . . -0.060 0.088 2.042 0.253 0.012 0.001 0.006 N c -1.547 -1.625 0.000 0.058 0.487 0.133 0 -1.07 0.094 -1.730 0.019 -0.064 0.121 0.000 0.063 0.003 0.074 2.453 0.042 . . . 0.2802 0.2098 0.2252 0.2019 0.2733 0.2767 0.3126 0.2816 0.2888 0.2738 0.2107 0.2297 0.1556 0.2830 0.2798 0.3113 0.3004 het 2141.42 202 19 9076278 . G A 2141.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.887;DP=202;Dels=0.00;FS=5.978;HRun=0;HaplotypeScore=7.6569;MQ=59.43;MQ0=0;MQRankSum=-0.173;QD=10.60;ReadPosRankSum=1.443;VQSLOD=4.1757;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:116,85:202:99:2171,0,2976 19 9076728 9076728 C T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.G10718A:p.R3573H 0.25 0.2 0.21 0.25 0.31 0.27 0.2629 0.2126 0.2132 0.2643 0.2446 0.2769 0.2589 0.2780 0.26 0.21 0.29 0.24 . rs2591594 . . . . . . . . . . . . . 0.131 0.266 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 4.11 0.029 T -0.12 0.088 N 0.048 0.029 -0.915 0.462 T 0.000 0.000 T . . . -0.217 0.075 1.013 0.433 0.032 0.000 0.002 N c -1.759 -1.844 0.972 0.293 0.487 0.133 0 -2.79 0.055 0.036 0.136 -0.687 0.038 0.023 0.197 0.000 0.016 7.792 0.281 . . . 0.2630 0.2076 0.2172 0.1746 0.2705 0.2402 0.2906 0.2530 0.2824 0.2462 0.2074 0.2220 0.13 0.2820 0.2420 0.2692 0.2526 het 1706.76 137 19 9076728 . C T 1706.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.307;DP=137;Dels=0.00;FS=0.664;HRun=0;HaplotypeScore=3.5621;MQ=58.88;MQ0=0;MQRankSum=0.142;QD=12.46;ReadPosRankSum=0.377;VQSLOD=6.3858;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,64:137:99:1737,0,2041 19 9076858 9076858 C T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.G10588A:p.V3530I 0.25 0.2 0.21 0.25 0.31 0.27 0.2628 0.2126 0.2130 0.2638 0.2445 0.2769 0.2589 0.2780 0.26 0.21 0.29 0.24 . rs2547074 COSM5505432;COSM5505433 1(biliary_tract) . . . . . . . . . . . 0.0 0.912 D 0.194 0.278 B 0.03 0.205 B . . . 1 0.090 P 0 0.065 N 4.3 0.025 T -0.24 0.108 N 0.012 0.001 -0.911 0.468 T 0.000 0.000 T . . . 0.105 0.104 3.665 0.516 0.045 0.000 0.003 N c -1.230 -1.352 0.931 0.270 0.487 0.133 0 -2.83 0.054 0.010 0.130 0.674 0.295 0.000 0.063 0.001 0.043 2.792 0.050 . . . 0.2629 0.2073 0.2172 0.1747 0.2695 0.2400 0.2907 0.2528 0.2824 0.2462 0.2079 0.2213 0.13 0.2802 0.2418 0.2693 0.2510 het 2891.97 250 19 9076858 . C T 2891.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.913;DP=250;DS;Dels=0.00;FS=2.177;HRun=0;HaplotypeScore=8.8022;MQ=59.19;MQ0=0;MQRankSum=-0.772;QD=11.57;ReadPosRankSum=-0.176;VQSLOD=4.3426;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:141,108:250:99:2922,0,3738 19 9076929 9076929 T G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A10517C:p.K3506T 0.25 0.2 0.21 0.25 0.31 0.27 0.2628 0.2126 0.2131 0.2643 0.2445 0.2768 0.2589 0.2780 0.26 0.21 0.29 0.24 . rs2547075 COSM4416530;COSM4416529 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.296 0.147 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 4.17 0.028 T 0.17 0.051 N 0.06 0.044 -0.898 0.482 T 0.000 0.000 T . . . -0.423 0.060 0.340 0.404 0.028 0.000 0.001 N c -1.381 -1.434 0.000 0.050 0.554 0.246 0 0.596 0.166 -0.046 0.118 -0.095 0.117 0.000 0.063 0.001 0.043 2.339 0.040 . . . 0.2628 0.2074 0.2172 0.1747 0.2695 0.2400 0.2905 0.2529 0.2824 0.2457 0.2073 0.2220 0.1291 0.2790 0.2418 0.2687 0.2510 het 2326.25 182 19 9076929 . T G 2326.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.375;DP=182;DS;Dels=0.00;FS=0.631;HRun=0;HaplotypeScore=2.8724;MQ=59.49;MQ0=0;MQRankSum=0.665;QD=12.78;ReadPosRankSum=-0.269;VQSLOD=5.9199;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,81:182:99:2356,0,2906 19 9076950 9076950 C A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.G10496T:p.R3499M 0.25 0.2 0.21 0.25 0.31 0.27 0.2628 0.2126 0.2129 0.2640 0.2445 0.2767 0.2589 0.2779 0.26 0.21 0.29 0.24 . rs2547076 COSM4419287;COSM4419286 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.256 0.168 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 4.09 0.030 T 0.17 0.051 N 0.079 0.071 -0.901 0.479 T 0.000 0.000 T . . . 0.196 0.113 4.638 0.706 0.091 0.000 0.004 N c -1.467 -1.521 0.000 0.050 0.554 0.246 0 0.457 0.158 -0.785 0.047 -0.023 0.128 0.000 0.063 0.002 0.062 2.361 0.040 . . . 0.2627 0.2073 0.2170 0.1746 0.2696 0.2398 0.2904 0.2527 0.2824 0.2458 0.2070 0.2220 0.1291 0.2798 0.2418 0.2690 0.2510 het 2054.09 157 19 9076950 . C A 2054.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.873;DP=157;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5023;MQ=59.41;MQ0=0;MQRankSum=-0.672;QD=13.08;ReadPosRankSum=-0.579;VQSLOD=6.1387;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,76:157:99:2084,0,2417 19 9076991 9076991 C T exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.G10455A:p.A3485A 0.25 0.2 0.21 0.25 0.31 0.27 0.2629 0.2125 0.2123 0.2650 0.2442 0.2769 0.2595 0.2781 0.26 0.21 0.29 0.24 . rs2591595 COSM4417033;COSM4417032 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2626 0.2074 0.2168 0.1747 0.2697 0.2399 0.2903 0.2530 0.2824 0.2462 0.2081 0.2220 0.1291 0.2813 0.2421 0.2690 0.2520 het 1522.45 104 19 9076991 . C T 1522.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.834;DP=104;Dels=0.00;FS=1.686;HRun=0;HaplotypeScore=2.5309;MQ=59.56;MQ0=0;MQRankSum=1.505;QD=14.64;ReadPosRankSum=0.549;VQSLOD=6.3459;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,52:104:99:1552,0,1410 19 9077060 9077060 C T exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.G10386A:p.V3462V 0.25 0.2 0.21 0.25 0.31 0.27 0.2627 0.2125 0.2124 0.2640 0.2443 0.2766 0.2589 0.2780 0.26 0.21 0.29 0.24 . rs2591596 COSM4418962;COSM4418963 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2625 0.2072 0.2167 0.1747 0.2697 0.2398 0.2901 0.2529 0.2823 0.2460 0.2074 0.2220 0.1291 0.2812 0.2417 0.2692 0.25 het 1625.10 116 19 9077060 . C T 1625.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.070;DP=116;Dels=0.00;FS=7.556;HRun=0;HaplotypeScore=4.2383;MQ=58.91;MQ0=0;MQRankSum=-0.663;QD=14.01;ReadPosRankSum=1.421;VQSLOD=4.1705;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,61:116:99:1655,0,1615 19 9077264 9077264 T G exonic MUC16 synonymous SNV MUC16:NM_024690:exon3:c.A10182C:p.V3394V 0.25 0.2 0.21 0.25 0.31 0.27 0.2629 0.2125 0.2129 0.2648 0.2445 0.2768 0.2589 0.2780 0.26 0.21 0.29 0.25 . rs1862461 COSM148495;COSM148496 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2627 0.2075 0.2172 0.1748 0.2702 0.2400 0.2903 0.2527 0.2824 0.2463 0.2076 0.2220 0.1291 0.2830 0.2420 0.2694 0.25 het 2761.55 250 19 9077264 . T G 2761.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.793;DP=250;DS;Dels=0.00;FS=1.577;HRun=0;HaplotypeScore=12.4247;MQ=59.26;MQ0=0;MQRankSum=1.906;QD=11.05;ReadPosRankSum=-0.237;VQSLOD=3.2900;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:150,100:250:99:2792,0,4192 19 9077803 9077803 T C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon3:c.A9643G:p.S3215G 0.25 0.2 0.21 0.25 0.31 0.27 0.2629 0.2124 0.2129 0.2627 0.2445 0.2769 0.2584 0.2791 0.26 0.21 0.29 0.25 . rs2591597 COSM4418015;COSM4418016 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.289 0.150 T 0.001 0.067 B 0.004 0.093 B . . . 1 0.090 P 0 0.065 N 4.23 0.026 T -0.04 0.076 N 0.017 0.003 -0.914 0.463 T 0.000 0.000 T . . . -1.095 0.029 0.010 0.298 0.016 0.011 0.039 N c -1.633 -1.665 0.000 0.052 0.487 0.133 0 0.813 0.178 -0.543 0.061 -0.596 0.044 0.006 0.172 0.003 0.074 5.633 0.167 . . . 0.2628 0.2074 0.2171 0.1746 0.2690 0.2400 0.2904 0.2523 0.2834 0.2458 0.2078 0.2188 0.13 0.2818 0.2418 0.2686 0.2495 het 1437.54 156 19 9077803 . T C 1437.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.007;DP=156;Dels=0.00;FS=2.972;HRun=1;HaplotypeScore=3.6542;MQ=59.44;MQ0=0;MQRankSum=2.373;QD=9.21;ReadPosRankSum=0.053;VQSLOD=5.1088;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,60:156:99:1468,0,2595 19 9080462 9080462 C G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon2:c.G9569C:p.S3190T 0.6 0.43 0.61 0.81 0.6 0.63 0.5996 0.4529 0.6617 0.8147 0.5600 0.5865 0.5644 0.6017 0.57 0.47 0.61 0.51 . rs2547065 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 4.68 0.017 T 0.9 0.016 N 0.02 0.004 -1.092 0.052 T 0.000 0.000 T . . . -0.234 0.073 0.931 0.195 0.007 0.000 0.001 N c -1.204 -1.329 0.012 0.122 0.487 0.133 0 0.926 0.185 -0.189 0.095 -0.504 0.051 0.001 0.137 0.042 0.158 4.819 0.127 . . . 0.6054 0.4472 0.6575 0.5402 0.8160 0.5626 0.5952 0.5632 0.6022 0.5594 0.4655 0.6379 0.5364 0.8130 0.5596 0.5819 0.5735 het 1322.27 118 19 9080462 . C G 1322.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.404;DP=118;Dels=0.00;FS=5.229;HRun=1;HaplotypeScore=8.4728;MQ=58.46;MQ0=0;MQRankSum=1.174;QD=11.21;ReadPosRankSum=-1.431;VQSLOD=3.6734;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,49:118:99:1352,0,1973 19 9083124 9083124 G A exonic MUC16 synonymous SNV MUC16:NM_024690:exon1:c.C8691T:p.V2897V 0.14 0.017 0.15 0.05 0.3 0.22 0.2287 0.0577 0.1343 0.0600 0.2244 0.2976 0.2050 0.2075 0.23 0.071 0.3 0.14 . rs12608495 COSM148498;COSM148497 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2263 0.0540 0.1465 0.1950 0.0606 0.2159 0.3085 0.2297 0.2111 0.1931 0.0573 0.1551 0.17 0.0546 0.2202 0.2799 0.2439 het 590.05 60 19 9083124 . G A 590.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.758;DP=60;Dels=0.00;FS=17.359;HRun=1;HaplotypeScore=2.6557;MQ=59.62;MQ0=0;MQRankSum=0.475;QD=9.83;ReadPosRankSum=1.441;VQSLOD=3.0811;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,24:60:99:620,0,1018 19 9083143 9083143 G A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon1:c.C8672T:p.T2891I 0.23 0.27 0.3 0.023 0.31 0.24 0.2933 0.2747 0.2449 0.0232 0.2842 0.3364 0.3122 0.3049 0.31 0.27 0.33 0.27 . rs7245949 . . . . . . . . . . . . . 0.0 0.912 D 0.991 0.622 D 0.934 0.652 D . . . 1 0.090 P 0 0.065 N 4.28 0.025 T -1.44 0.354 N 0.066 0.052 -0.820 0.540 T 0.000 0.000 T . . . -0.296 0.069 0.680 0.331 0.020 0.010 0.037 N c -0.534 -0.777 0.000 0.055 0.487 0.133 0 0.773 0.176 0.218 0.173 0.368 0.274 0.002 0.151 0.010 0.111 4.823 0.127 . . . 0.2906 0.2673 0.2526 0.4405 0.0255 0.2774 0.3300 0.3235 0.3052 0.2930 0.2635 0.2530 0.4172 0.0291 0.2863 0.3390 0.3057 het 741.10 50 19 9083143 . G A 741.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.383;DP=50;Dels=0.00;FS=4.189;HRun=0;HaplotypeScore=0.7340;MQ=59.54;MQ0=0;MQRankSum=-0.432;QD=14.82;ReadPosRankSum=-0.806;VQSLOD=6.2595;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,29:50:99:771,0,585 19 9083174 9083174 G A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon1:c.C8641T:p.P2881S 0.23 0.27 0.3 0.023 0.31 0.24 0.2948 0.2758 0.2475 0.0234 0.2835 0.3376 0.3151 0.3066 0.31 0.27 0.33 0.27 . rs7245960 . . . . . . . . . . . . . 0.027 0.465 D 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 0 0.065 N 4.04 0.032 T -1.05 0.275 N 0.045 0.025 -0.905 0.475 T 0.000 0.000 T . . . -2.309 0.005 0.001 0.191 0.006 0.001 0.006 N c -1.959 -2.052 0.007 0.113 0.487 0.133 0 -1.55 0.081 -1.154 0.033 -0.532 0.049 0.001 0.137 0.190 0.215 3.455 0.070 . . . 0.2909 0.2678 0.2528 0.4403 0.0256 0.2775 0.3303 0.3237 0.3054 0.2929 0.2637 0.2536 0.4167 0.0291 0.2864 0.3388 0.3057 het 788.27 41 19 9083174 . G A 788.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.368;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9855;MQ=58.20;MQ0=0;MQRankSum=-1.460;QD=19.23;ReadPosRankSum=1.744;VQSLOD=3.1773;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,26:41:99:818,0,399 19 9084183 9084183 G A exonic MUC16 synonymous SNV MUC16:NM_024690:exon1:c.C7632T:p.P2544P 0.42 0.34 0.57 0.33 0.48 0.43 0.4874 0.3509 0.5585 0.3232 0.5041 0.5135 0.5022 0.4915 0.45 0.33 0.51 0.34 . rs1609460 COSM4415016;COSM4415015 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4925 0.3459 0.5611 0.6041 0.3237 0.5034 0.5061 0.5159 0.4882 0.4593 0.3444 0.5300 0.6060 0.3252 0.5080 0.5197 0.4949 het 1496.93 110 19 9084183 . G A 1496.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.464;DP=110;Dels=0.00;FS=2.569;HRun=0;HaplotypeScore=1.5592;MQ=59.16;MQ0=0;MQRankSum=1.380;QD=13.61;ReadPosRankSum=-0.129;VQSLOD=6.5785;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,52:110:99:1527,0,1758 19 9084216 9084216 T C exonic MUC16 synonymous SNV MUC16:NM_024690:exon1:c.A7599G:p.A2533A 0.23 0.27 0.3 0.023 0.31 0.24 0.2918 0.2734 0.2429 0.0230 0.2828 0.3352 0.3062 0.3038 0.3 0.26 0.33 0.27 . rs1609459 COSM4132886;COSM4132885 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2908 0.2676 0.2527 0.4407 0.0259 0.2771 0.3303 0.3236 0.3055 0.2930 0.2638 0.2530 0.4205 0.0297 0.2864 0.3388 0.3057 het 778.99 72 19 9084216 . T C 778.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.032;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0908;MQ=58.71;MQ0=0;MQRankSum=0.582;QD=10.82;ReadPosRankSum=1.032;VQSLOD=6.2403;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,33:72:99:809,0,1173 19 9084299 9084299 T C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon1:c.A7516G:p.T2506A 0.42 0.34 0.57 0.33 0.48 0.43 0.4880 0.3522 0.5593 0.3245 0.5045 0.5141 0.5033 0.4915 0.45 0.34 0.51 0.34 . rs1609458 COSM1398148;COSM1398149 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);2(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.927 0.495 P 0.801 0.564 P . . . 1 0.090 P . . . 4.79 0.016 T -0.7 0.199 N 0.014 0.002 -0.960 0.392 T 0.000 0.000 T . . . -0.949 0.034 0.020 0.453 0.035 0.000 0.002 N c -0.499 -0.800 0.003 0.098 0.487 0.133 0 0.225 0.145 -0.505 0.064 0.368 0.274 0.000 0.063 0.432 0.259 . . . . . 0.4929 0.3471 0.5612 0.6039 0.3244 0.5036 0.5066 0.5163 0.4882 0.4597 0.3457 0.5287 0.6060 0.3269 0.5077 0.5200 0.4949 het 1380.53 116 19 9084299 . T C 1380.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.572;DP=116;Dels=0.00;FS=1.522;HRun=2;HaplotypeScore=1.7882;MQ=59.80;MQ0=0;MQRankSum=1.756;QD=11.90;ReadPosRankSum=0.733;VQSLOD=5.9166;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,52:116:99:1411,0,1654 19 9086123 9086123 A C exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon1:c.T5692G:p.Y1898D 0.23 0.27 0.3 0.023 0.31 0.24 0.2920 0.2740 0.2445 0.0229 0.2828 0.3354 0.3098 0.3038 0.31 0.27 0.33 0.27 . rs10402812 . . . . . . . . . . . . . 1.0 0.010 T 0.991 0.622 D 0.955 0.679 D . . . 1 0.090 P . . . 4.77 0.016 T -1.35 0.336 N 0.047 0.028 -0.886 0.493 T 0.000 0.000 T . . . -0.412 0.061 0.361 0.457 0.036 0.002 0.011 N c -0.500 -0.826 0.000 0.050 0.487 0.133 0 0.225 0.145 -1.291 0.029 0.411 0.276 0.000 0.063 0.013 0.120 . . . . . 0.2909 0.2680 0.2530 0.4406 0.0258 0.2773 0.3305 0.3232 0.3054 0.2927 0.2641 0.2530 0.4233 0.0296 0.2858 0.3383 0.3057 het 927.56 82 19 9086123 . A C 927.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.600;DP=82;Dels=0.00;FS=8.162;HRun=0;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;MQRankSum=0.504;QD=11.31;ReadPosRankSum=0.616;VQSLOD=5.0397;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,34:82:99:958,0,1310 19 9087615 9087615 T A exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon1:c.A4200T:p.K1400N 1. 1. 1. 0.98 1. 1. 0.9989 0.9996 1 0.9853 1 1 0.9967 0.9999 1. 1. 1. 0.99 . rs1596798 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 4.18 0.028 T 1.24 0.010 N 0.027 0.009 -1.067 0.101 T 0.000 0.000 T . . . 0.219 0.115 4.874 0.587 0.059 0.000 0.002 N c -1.507 -1.579 0.000 0.053 0.487 0.133 0 0.010 0.133 -1.337 0.027 -0.856 0.029 0.000 0.063 0.043 0.159 2.122 0.035 . . . 0.9991 0.9995 0.9999 1 0.9878 1 1 0.9993 0.9998 0.9992 0.9993 1 1 0.9889 1 0.9999 1 hom 4618.68 144 19 9087615 . T A 4618.68 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=32.07;VQSLOD=9.5560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4618,367,0 19 9088017 9088017 T G exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon1:c.A3798C:p.K1266N 0.8 0.97 0.81 0.73 0.7 0.73 0.7434 0.9213 0.8023 0.7223 0.7766 0.7027 0.7761 0.7568 0.77 0.91 0.7 0.79 . rs1596797 COSM5021993;COSM5021992 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 4.18 0.028 T 1.24 0.010 N 0.005 0.000 -0.996 0.310 T 0.000 0.000 T . . . -0.582 0.051 0.138 0.398 0.027 0.001 0.004 N c -1.678 -1.792 0.034 0.142 0.487 0.133 0 -2.01 0.070 -1.319 0.028 -1.183 0.016 0.000 0.063 0.000 0.016 0.403 0.004 . . . 0.7437 0.9252 0.7962 0.8026 0.7143 0.7842 0.6912 0.7509 0.7540 0.7873 0.9197 0.7995 0.83 0.7095 0.7799 0.7210 0.75 het 4536.98 250 19 9088017 . T G 4536.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.187;DP=250;DS;Dels=0.00;FS=4.306;HRun=1;HaplotypeScore=5.8037;MQ=59.38;MQ0=0;MQRankSum=0.934;QD=18.15;ReadPosRankSum=-0.277;VQSLOD=4.2056;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:120,130:250:99:3847,0,3213 19 9090531 9090531 T C exonic MUC16 synonymous SNV MUC16:NM_024690:exon1:c.A1284G:p.E428E 0.22 0.27 0.22 0.023 0.31 0.24 0.284 0.2728 0.1642 0.0228 0.2814 0.3350 0.3 0.3049 0.3 0.26 0.33 0.27 . rs12976721 COSM1129636;COSM1129637 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2805 0.2668 0.1788 0.4378 0.0258 0.2761 0.3306 0.3117 0.3064 0.2911 0.2632 0.1981 0.4233 0.0297 0.2851 0.3388 0.3012 het 2306.08 145 19 9090531 . T C 2306.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.863;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7771;MQ=59.39;MQ0=0;MQRankSum=0.755;QD=15.90;ReadPosRankSum=-0.542;VQSLOD=5.7004;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,80:145:99:2336,0,1872 19 9204307 9204307 A G exonic OR1M1 synonymous SNV OR1M1:NM_001004456:exon1:c.A387G:p.P129P 0.72 0.67 0.58 0.89 0.69 0.73 0.6769 0.6580 0.5420 0.8943 0.7366 0.6623 0.7258 0.7022 0.65 0.65 0.65 0.67 0.65 rs4804097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6712 0.6564 0.5491 0.6761 0.8890 0.7428 0.6536 0.6834 0.6984 0.6781 0.6509 0.5682 0.7020 0.8875 0.7328 0.6635 0.6884 hom 6459.75 207 19 9204307 . A G 6459.75 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8450;MQ=59.48;MQ0=0;QD=31.21;VQSLOD=8.1748;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,206:207:99:6427,547,0 19 9213026 9213026 T C exonic OR7G2 synonymous SNV OR7G2:NM_001005193:exon1:c.A957G:p.K319K 0.33 0.11 0.29 0.56 0.37 0.4 0.3376 0.1361 0.2351 0.5945 0.3065 0.3511 0.3546 0.3587 0.28 0.15 0.35 0.29 0.26 rs4804400 COSM3757496 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3367 0.1330 0.2493 0.4513 0.5906 0.3072 0.3421 0.3435 0.3551 0.2846 0.1297 0.2578 0.46 0.6001 0.3163 0.3290 0.3238 het 1851.10 119 19 9213026 . T C 1851.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.174;DP=119;Dels=0.00;FS=7.139;HRun=2;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;MQRankSum=0.303;QD=15.56;ReadPosRankSum=-2.272;VQSLOD=4.0936;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,66:119:99:1881,0,1480 19 9213079 9213079 A C exonic OR7G2 nonsynonymous SNV OR7G2:NM_001005193:exon1:c.T904G:p.F302V 0.33 0.11 0.29 0.56 0.37 0.4 0.3375 0.1362 0.2350 0.5943 0.3066 0.3510 0.3546 0.3585 0.28 0.15 0.35 0.29 0.26 rs4804401 COSM3757497 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.337 N 1 0.090 P -2.395 0.001 N 9.18 0.000 T 4.3 0.000 N 0.074 0.064 -1.010 0.270 T 0.000 0.000 T . . . -1.079 0.029 0.011 0.174 0.005 0.001 0.007 N c -1.788 -1.636 0.000 0.012 0.487 0.133 0 3.14 0.350 -3.341 0.006 -0.079 0.119 0.000 0.063 0.001 0.043 11.334 0.485 . ENSG00000181143.11|ENSG00000167785.4|ENSG00000181143.11 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.3367 0.1331 0.2494 0.4513 0.5906 0.3073 0.3421 0.3437 0.3550 0.2843 0.1297 0.2572 0.4636 0.5994 0.3155 0.3286 0.3211 het 1537.23 128 19 9213079 . A C 1537.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.085;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8025;MQ=59.38;MQ0=0;MQRankSum=0.931;QD=12.01;ReadPosRankSum=0.179;VQSLOD=6.3291;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:70,58:128:99:1567,0,1970 19 9213132 9213132 A G exonic OR7G2 nonsynonymous SNV OR7G2:NM_001005193:exon1:c.T851C:p.V284A 0.4 0.21 0.36 0.59 0.42 0.49 0.4079 0.2278 0.3148 0.6213 0.3555 0.4175 0.4262 0.4560 0.35 0.23 0.42 0.37 0.35 rs12610094 COSM3757498 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.977 0.081 N 1 0.090 P -1.635 0.004 N 8.84 0.000 T 2.38 0.003 N 0.046 0.026 -0.939 0.428 T 0.000 0.000 T . . . -1.946 0.009 0.001 0.194 0.007 0.002 0.011 N c -1.806 -1.734 0.000 0.012 0.487 0.133 0 -0.483 0.114 -0.779 0.047 -0.497 0.052 0.000 0.063 0.000 0.016 4.774 0.125 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000181143.11|ENSG00000167785.4|ENSG00000181143.11 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.4048 0.2259 0.3272 0.4739 0.6203 0.3540 0.4106 0.4121 0.4496 0.3569 0.2278 0.3301 0.4833 0.6295 0.3737 0.3956 0.3918 het 1541.64 142 19 9213132 . A G 1541.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.617;DP=142;Dels=0.00;FS=0.626;HRun=0;HaplotypeScore=0.9832;MQ=59.28;MQ0=0;MQRankSum=0.334;QD=10.86;ReadPosRankSum=-0.568;VQSLOD=6.7804;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,64:142:99:1572,0,2173 19 9271969 9271969 C A exonic ZNF317 synonymous SNV ZNF317:NM_001190791:exon6:c.C1552A:p.R518R,ZNF317:NM_020933:exon7:c.C1648A:p.R550R 0.091 0.15 0.084 0.097 0.053 0.046 0.0748 0.1592 0.0643 0.0998 0.0411 0.0681 0.0563 0.0573 0.097 0.15 0.069 0.14 0.049 rs9305035 COSM4001074 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0747 0.1635 0.0760 0.0944 0.1062 0.0402 0.0668 0.0736 0.0588 0.0930 0.1747 0.0695 0.1093 0.0979 0.0364 0.0608 0.0680 het 2045.59 122 19 9271969 . C A 2045.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.710;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7903;MQ=59.09;MQ0=0;MQRankSum=-1.215;QD=16.77;ReadPosRankSum=-1.078;VQSLOD=3.6759;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,75:122:99:2076,0,1164 19 9296664 9296664 T C exonic OR7D2 synonymous SNV OR7D2:NM_175883:exon1:c.T207C:p.V69V 0.23 0.079 0.2 0.28 0.3 0.32 0.2625 0.1079 0.1664 0.2902 0.3261 0.2864 0.3161 0.2876 0.24 0.11 0.3 0.17 0.35 rs56246934 COSM3757499 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2664 0.1088 0.1835 0.3352 0.3033 0.3259 0.2844 0.2613 0.2851 0.2436 0.1114 0.1699 0.3477 0.3180 0.3192 0.2923 0.3129 hom 7130.96 224 19 9296664 . T C 7130.96 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0939;MQ=59.02;MQ0=0;QD=31.83;VQSLOD=3.0099;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:224:99:7129,608,0 19 9490814 9490814 C T exonic ZNF177;ZNF559-ZNF177 nonsynonymous SNV ZNF177:NM_001172651:exon5:c.C335T:p.T112M,ZNF559-ZNF177:NM_001202425:exon8:c.C335T:p.T112M,ZNF177:NM_003451:exon8:c.C335T:p.T112M,ZNF559-ZNF177:NM_001172650:exon11:c.C335T:p.T112M 0.59 0.75 0.57 0.46 0.57 0.57 0.5741 0.7238 0.5067 0.4111 0.4450 0.5921 0.5187 0.5942 0.64 0.72 0.59 0.64 0.61 rs2217652 COSM3757505;COSM148501 1(stomach);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.648 0.177 T 0.0 0.026 B 0.0 0.013 B . . . . . . -0.59 0.022 N 5.63 0.059 T 2.01 0.028 N 0.146 0.172 -1.086 0.062 T 0.000 0.000 T . . . 0.650 0.156 8.495 0.274 0.014 0.000 0.002 N c -1.418 -1.470 0.000 0.068 0.563 0.310 0 -0.894 0.100 -2.665 0.009 -0.602 0.044 0.000 0.063 0.244 0.227 7.670 0.275 . ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000266912.1|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000270614.1|ENSG00000174652.13|ENSG00000188321.9|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13|ENSG00000174652.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.5636 0.7278 0.5086 0.6597 0.4092 0.4396 0.5905 0.5760 0.5853 0.5896 0.7253 0.5299 0.6689 0.4344 0.4364 0.5680 0.5428 het 451.77 57 19 9490814 . C T 451.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.041;DP=57;Dels=0.00;FS=3.786;HRun=0;HaplotypeScore=0.6651;MQ=57.28;MQ0=0;MQRankSum=-1.172;QD=7.93;ReadPosRankSum=-0.254;VQSLOD=3.3947;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,22:57:99:482,0,888 19 9492141 9492141 C T exonic ZNF177;ZNF559-ZNF177 synonymous SNV ZNF177:NM_001172651:exon6:c.C1134T:p.I378I,ZNF177:NM_003451:exon9:c.C654T:p.I218I,ZNF559-ZNF177:NM_001172650:exon12:c.C654T:p.I218I 0.54 0.59 0.54 0.45 0.56 0.56 0.5513 0.6020 0.4587 0.4011 0.4369 0.5823 0.5121 0.5851 0.59 0.6 0.58 0.6 0.58 rs3826783 COSM3757507;COSM3757506 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5441 0.6066 0.4656 0.6557 0.4007 0.4317 0.5823 0.5605 0.5832 0.5477 0.6048 0.4905 0.67 0.4171 0.4297 0.5584 0.5235 het 2940.52 250 19 9492141 . C T 2940.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.364;DP=250;DS;Dels=0.00;FS=3.618;HRun=1;HaplotypeScore=2.3983;MQ=58.32;MQ0=0;MQRankSum=-1.531;QD=11.76;ReadPosRankSum=-1.042;VQSLOD=4.5676;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:2971,0,3507 19 9524185 9524185 A G exonic ZNF266 synonymous SNV ZNF266:NM_001271314:exon11:c.T1416C:p.A472A,ZNF266:NM_006631:exon11:c.T1416C:p.A472A 0.59 0.75 0.57 0.46 0.57 0.57 0.5731 0.7247 0.5073 0.4120 0.4543 0.5915 0.5155 0.5839 0.64 0.72 0.59 0.64 0.58 rs2241356 COSM148503 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5649 0.7287 0.5120 0.6607 0.4112 0.4476 0.5914 0.5802 0.5828 0.5879 0.7269 0.5287 0.6689 0.4312 0.4447 0.5623 0.5388 het 775.42 49 19 9524185 . A G 775.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.332;DP=49;Dels=0.00;FS=1.092;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.693;QD=15.82;ReadPosRankSum=0.633;VQSLOD=6.2496;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,27:49:99:805,0,643 19 9964946 9964946 G A exonic OLFM2 synonymous SNV OLFM2:NM_001304348:exon5:c.C1047T:p.R349R,OLFM2:NM_001304347:exon6:c.C1353T:p.R451R,OLFM2:NM_058164:exon6:c.C1281T:p.R427R 0.083 0.039 0.056 0.092 0.11 0.12 0.1107 0.0561 0.0535 0.0957 0.1027 0.1232 0.1101 0.1455 0.1 0.06 0.12 0.054 0.098 rs11556088 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1108 0.0535 0.0594 0.1509 0.0992 0.0993 0.1233 0.1150 0.1513 0.0943 0.0494 0.0695 0.1656 0.1043 0.1015 0.1179 0.0906 het 2568.38 172 19 9964946 . G A 2568.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.750;DP=172;Dels=0.00;FS=3.039;HRun=0;HaplotypeScore=3.3052;MQ=59.15;MQ0=0;MQRankSum=0.173;QD=14.93;ReadPosRankSum=1.491;VQSLOD=5.8562;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,97:172:99:2598,0,1780 19 10084292 10084292 C G exonic COL5A3 nonsynonymous SNV COL5A3:NM_015719:exon50:c.G3620C:p.R1207P 0.48 0.73 0.32 0.35 0.43 0.46 0.4355 0.6914 0.2933 0.3523 0.3872 0.4274 0.4198 0.4718 0.52 0.68 0.43 0.48 0.39 rs2287813 COSM4418987 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.407 N 0.365 0.328 P -0.75 0.017 N -2.57 0.897 D 5.86 0.000 N 0.029 0.010 -0.960 0.393 T 0.000 0.000 T . . . 2.371 0.346 18.63 0.277 0.014 0.101 0.155 N c -0.757 -0.480 0.133 0.171 0.516 0.203 0 4.95 0.648 3.136 0.500 0.039 0.154 0.962 0.335 0.934 0.407 13.569 0.611 . ENSG00000105088.4 Adipose_Subcutaneous 0.4219 0.6887 0.3083 0.4387 0.3500 0.3772 0.4260 0.4059 0.4689 0.4914 0.6860 0.2945 0.4735 0.3519 0.3758 0.4368 0.4141 het 1194.15 99 19 10084292 . C G 1194.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.757;DP=99;Dels=0.00;FS=5.118;HRun=1;HaplotypeScore=5.9925;MQ=59.34;MQ0=0;MQRankSum=0.229;QD=12.06;ReadPosRankSum=-0.370;VQSLOD=4.6563;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,44:99:99:1224,0,1402 19 10088271 10088271 C G exonic COL5A3 nonsynonymous SNV COL5A3:NM_015719:exon42:c.G3125C:p.R1042P 0.35 0.34 0.25 0.33 0.39 0.41 0.3803 0.3548 0.2171 0.3362 0.3546 0.4065 0.3771 0.4602 0.39 0.36 0.4 0.33 0.34 rs2161468 . . . . . . . . . . . . . 1.0 0.010 T 0.018 0.165 B 0.001 0.040 B 0.001 0.412 N 1.000 0.201 P -0.37 0.031 N -2.61 0.900 D 7.89 0.000 N 0.083 0.077 -1.047 0.152 T 0.000 0.000 T . . . 1.139 0.204 11.43 0.224 0.009 0.038 0.090 N c -0.854 -0.665 0.001 0.085 0.497 0.185 0 2.68 0.307 3.923 0.559 0.073 0.181 1.000 0.715 0.897 0.379 6.561 0.215 . ENSG00000105088.4 Nerve_Tibial 0.3679 0.3488 0.2336 0.4147 0.3337 0.3404 0.4052 0.3596 0.4196 0.3744 0.3500 0.2148 0.4305 0.3344 0.3433 0.4084 0.3701 het 298.83 30 19 10088271 . C G 298.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.241;DP=30;Dels=0.00;FS=1.518;HRun=3;HaplotypeScore=2.8093;MQ=59.23;MQ0=0;MQRankSum=-0.592;QD=9.96;ReadPosRankSum=-0.417;VQSLOD=6.0191;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,13:30:99:329,0,381 19 10089262 10089262 G A exonic COL5A3 synonymous SNV COL5A3:NM_015719:exon41:c.C3006T:p.P1002P 0.65 0.95 0.48 0.55 0.52 0.59 0.5779 0.8995 0.4976 0.5740 0.4897 0.5425 0.5170 0.6141 0.66 0.88 0.55 0.65 0.48 rs12610207 COSM5426722 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5633 0.8994 0.5094 0.4916 0.5784 0.4751 0.5440 0.5257 0.6030 0.6394 0.8977 0.4530 0.5 0.5825 0.4768 0.5528 0.5320 het 523.74 28 19 10089262 . G A 523.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.069;DP=28;Dels=0.00;FS=4.028;HRun=0;HaplotypeScore=1.9916;MQ=57.51;MQ0=0;MQRankSum=-0.743;QD=18.71;ReadPosRankSum=-2.228;VQSLOD=2.3884;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,21:28:99:554,0,157 19 10106260 10106260 G A exonic COL5A3 nonsynonymous SNV COL5A3:NM_015719:exon16:c.C1567T:p.P523S . . . . . . 0.0008 0.0006 0 0 0.0002 0.0013 0 0 0.0008 0.0005 0.0009 . . rs146164473 . . . . . . . . . . . . . 0.212 0.195 T 0.805 0.432 P 0.575 0.482 P 0.184 0.170 N 0.802 0.345 D 2.085 0.579 M -4.06 0.965 D -3.14 0.640 D 0.351 0.412 0.981 0.969 D 0.877 0.959 D 0.216 0.876 D 2.454 0.356 19.17 0.998 0.912 0.297 0.237 N c 0.125 0.067 0.033 0.141 0.554 0.283 0 4.01 0.457 0.687 0.249 1.048 0.713 0.410 0.260 0.691 0.307 11.330 0.485 . . . 0.0006 0.0003 9.232e-05 0 0 8.998e-05 0.0013 0.0002 0 0.0004 0.0002 0 0 0 0.0003 0.0006 0 het 1054.71 87 19 10106260 . G A 1054.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.631;DP=87;Dels=0.00;FS=4.075;HRun=0;HaplotypeScore=5.2211;MQ=57.74;MQ0=0;MQRankSum=0.186;QD=12.12;ReadPosRankSum=-1.430;VQSLOD=2.6930;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,45:87:99:1085,0,1094 19 10106936 10106936 G C exonic COL5A3 synonymous SNV COL5A3:NM_015719:exon14:c.C1425G:p.L475L 0.4 0.63 0.37 0.34 0.32 0.23 0.3626 0.5949 0.4251 0.3834 0.2913 0.3345 0.3436 0.2822 0.42 0.58 0.34 0.42 0.2 rs1559186 COSM5480299 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3435 0.5849 0.4037 0.3661 0.3761 0.2748 0.3215 0.3243 0.2488 0.3970 0.5768 0.3636 0.3709 0.3944 0.2744 0.3288 0.3162 het 550.38 33 19 10106936 . G C 550.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.459;DP=33;Dels=0.00;FS=1.702;HRun=0;HaplotypeScore=1.5810;MQ=57.81;MQ0=0;MQRankSum=-0.091;QD=16.68;ReadPosRankSum=0.055;VQSLOD=3.8393;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,19:33:99:580,0,343 19 10112346 10112346 T C exonic COL5A3 nonsynonymous SNV COL5A3:NM_015719:exon8:c.A964G:p.R322G 0.93 0.98 0.89 0.81 0.98 0.96 0.9513 0.9769 0.8374 0.8169 0.9897 0.9790 0.9658 0.9573 0.98 0.98 0.97 0.92 0.99 rs2287803 COSM4131130 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.435 0.094 T 0.0 0.026 B 0.0 0.013 B 0.316 0.040 N 1 0.090 P -0.345 0.033 N -2.48 0.891 D 0.86 0.017 N 0.014 0.002 -0.946 0.416 T 0.000 0.000 T . . . -0.330 0.066 0.568 0.257 0.012 0.004 0.020 N c -1.333 -1.280 0.165 0.176 0.554 0.283 0 2.17 0.266 0.049 0.139 -0.991 0.022 0.014 0.188 0.001 0.043 4.501 0.112 . . . 0.9470 0.9778 0.8505 0.9888 0.8143 0.9898 0.9770 0.9526 0.9570 0.9648 0.9801 0.8568 0.9702 0.8075 0.9888 0.9730 0.9663 hom 3997.62 125 19 10112346 . T C 3997.62 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6112;MQ=59.52;MQ0=0;QD=31.98;VQSLOD=8.5470;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3997,307,0 19 10116375 10116375 G T exonic COL5A3 synonymous SNV COL5A3:NM_015719:exon4:c.C453A:p.A151A 0.51 0.49 0.53 0.29 0.51 0.73 0.5379 0.5217 0.5049 0.2853 0.5311 0.5383 0.5519 0.7075 0.53 0.52 0.54 0.55 0.43 rs2303099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5344 0.5188 0.5126 0.5207 0.2767 0.5366 0.5363 0.5314 0.7080 0.5127 0.5209 0.5359 0.4536 0.2871 0.5309 0.5255 0.5513 het 1081.75 77 19 10116375 . G T 1081.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.392;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6646;MQ=58.42;MQ0=0;MQRankSum=0.841;QD=14.05;ReadPosRankSum=-1.076;VQSLOD=5.3179;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,40:77:99:1112,0,1035 19 10116508 10116508 C T exonic COL5A3 nonsynonymous SNV COL5A3:NM_015719:exon3:c.G401A:p.R134H 0.16 0.17 0.091 0.11 0.16 0.27 0.1744 0.1763 0.0671 0.0869 0.1447 0.1842 0.1600 0.2682 0.17 0.16 0.17 0.15 0.066 rs2303098 COSM3756248 3(large_intestine) . . . . . . . . . . . 0.188 0.213 T 0.0 0.026 B 0.001 0.040 B 0.370 0.135 U 1 0.090 P 0.235 0.097 N 4.43 0.022 T 0.79 0.019 N 0.085 0.080 -0.915 0.462 T 0.000 0.000 T . . . 1.252 0.216 12.02 0.780 0.117 0.033 0.082 N c -1.209 -1.221 0.962 0.286 0.554 0.283 0 0.641 0.169 0.907 0.280 -0.396 0.063 0.001 0.137 0.036 0.153 4.010 0.090 Concanavalin A-like lectin/glucanase domain|Laminin G domain . . 0.1647 0.1688 0.0775 0.1435 0.0860 0.1417 0.1826 0.1616 0.2616 0.1605 0.1700 0.0933 0.1126 0.0808 0.1417 0.1721 0.1697 het 274.92 27 19 10116508 . C T 274.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.256;DP=27;Dels=0.00;FS=4.222;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=0.718;QD=10.18;ReadPosRankSum=1.436;VQSLOD=5.1972;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,13:27:99:305,0,406 19 10218524 10218524 C G exonic PPAN;PPAN-P2RY11 synonymous SNV PPAN:NM_001346141:exon3:c.C177G:p.V59V,PPAN-P2RY11:NM_001040664:exon4:c.C336G:p.V112V,PPAN-P2RY11:NM_001198690:exon4:c.C336G:p.V112V,PPAN:NM_001346139:exon4:c.C336G:p.V112V,PPAN:NM_001346140:exon4:c.C336G:p.V112V,PPAN:NM_020230:exon4:c.C336G:p.V112V 0.27 0.025 0.41 0.36 0.36 0.31 0.3225 0.0722 0.4389 0.3308 0.3658 0.3359 0.3241 0.3158 0.25 0.085 0.34 0.17 0.3 rs2305791 COSM4131136;COSM4131135 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3298 0.0682 0.4320 0.3315 0.3295 0.3682 0.3319 0.3203 0.3145 0.2664 0.0740 0.3854 0.3423 0.3300 0.3616 0.3362 0.3453 het 509.74 46 19 10218524 . C G 509.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.044;DP=46;Dels=0.00;FS=4.351;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.706;QD=11.08;ReadPosRankSum=-0.948;VQSLOD=5.1422;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,21:46:99:540,0,706 19 10224526 10224526 C T exonic P2RY11;PPAN-P2RY11 nonsynonymous SNV PPAN-P2RY11:NM_001198690:exon13:c.C1559T:p.P520L 0.37 0.15 0.51 0.35 0.49 0.44 0.4194 0.1999 0.5036 0.3130 0.4462 0.4445 0.4242 0.4412 0.37 0.22 0.45 0.34 0.34 rs3745600 COSM3756257;COSM3756256 2(breast);1(thyroid);6(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.002 0.063 B . . . 0.987 0.588 P . . . 1.39 0.338 T -0.34 0.127 N . . -0.895 0.485 T 0.000 0.000 T . . . 1.857 0.284 15.33 0.993 0.582 0.385 0.258 N c -0.910 -0.993 1.000 0.747 0.778 0.996 0 -4.37 0.034 -0.715 0.051 0.700 0.299 0.000 0.063 0.331 0.243 3.546 0.073 . ENSG00000130811.6 Muscle_Skeletal 0.4255 0.1970 0.5010 0.4343 0.3105 0.4532 0.4428 0.4257 0.4373 0.3664 0.2079 0.4653 0.4467 0.3047 0.4427 0.4357 0.4365 het 973.67 63 19 10224526 . C T 973.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DP=63;Dels=0.00;FS=9.032;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=-0.574;QD=15.46;ReadPosRankSum=-1.445;VQSLOD=3.7541;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,35:63:99:1004,0,808 19 10226256 10226256 A G exonic EIF3G synonymous SNV EIF3G:NM_003755:exon10:c.T846C:p.F282F 0.45 0.41 0.53 0.37 0.49 0.51 0.4457 0.4057 0.5093 0.3361 0.4461 0.4443 0.4346 0.4898 0.44 0.4 0.45 0.45 0.43 rs7710 COSM3756258 1(liver);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4490 0.4080 0.5130 0.4382 0.3341 0.4518 0.4443 0.4405 0.4839 0.4255 0.4079 0.4748 0.4503 0.3257 0.4429 0.4374 0.4519 het 645.24 76 19 10226256 . A G 645.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.431;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4716;MQ=59.09;MQ0=0;MQRankSum=-0.246;QD=8.49;ReadPosRankSum=-1.232;VQSLOD=5.9685;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,29:76:99:675,0,1404 19 10265312 10265312 T C exonic DNMT1 synonymous SNV DNMT1:NM_001318730:exon20:c.A1734G:p.T578T,DNMT1:NM_001379:exon20:c.A1734G:p.T578T,DNMT1:NM_001130823:exon21:c.A1782G:p.T594T,DNMT1:NM_001318731:exon21:c.A1419G:p.T473T 1. 1. 0.99 1. 0.99 1. 0.9910 0.9978 0.9932 1 0.9882 0.9867 0.9912 0.9990 0.99 1. 0.99 1. 0.99 rs721186 . . Benign|Benign not_specified|Dementia\x2c_Deafness\x2c_and_Sensory_Neuropathy RCV000247150.1|RCV000306290.1 MedGen|MedGen CN169374|CN239189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9908 0.9978 0.9926 0.9872 1 0.9897 0.9863 0.9887 0.9989 0.9905 0.9961 0.9916 0.9901 1 0.9888 0.9862 0.9969 hom 3746.38 129 19 10265312 . T C 3746.38 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=28.82;VQSLOD=9.0837;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3745,307,0 19 10267077 10267077 T C exonic DNMT1 synonymous SNV DNMT1:NM_001318730:exon17:c.A1341G:p.P447P,DNMT1:NM_001379:exon17:c.A1341G:p.P447P,DNMT1:NM_001130823:exon18:c.A1389G:p.P463P,DNMT1:NM_001318731:exon18:c.A1026G:p.P342P 0.53 0.52 0.45 0.65 0.46 0.57 0.5188 0.5175 0.4855 0.6931 0.5289 0.4969 0.4912 0.5374 0.49 0.49 0.49 0.63 0.49 rs2228611 . . Benign|Benign not_specified|Dementia\x2c_Deafness\x2c_and_Sensory_Neuropathy RCV000245855.1|RCV000385434.1 MedGen|MedGen CN169374|CN239189 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5186 0.5131 0.4834 0.5519 0.6957 0.5206 0.4940 0.5148 0.5381 0.5138 0.5008 0.5169 0.5298 0.7114 0.5205 0.4972 0.5265 het 1610.17 155 19 10267077 . T C 1610.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.217;DP=155;Dels=0.00;FS=0.603;HRun=0;HaplotypeScore=1.6553;MQ=59.17;MQ0=0;MQRankSum=0.708;QD=10.39;ReadPosRankSum=0.347;VQSLOD=6.7901;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,68:155:99:1640,0,2213 19 10334663 10334663 T G exonic S1PR2 synonymous SNV S1PR2:NM_004230:exon2:c.A919C:p.R307R 0.55 0.77 0.46 0.31 0.59 0.54 0.5470 0.7332 0.4190 0.3027 0.5005 0.5865 0.5776 0.5218 0.63 0.72 0.59 0.45 0.25 rs2116942 COSM3749447 1(haematopoietic_and_lymphoid_tissue);1(thyroid);8(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5381 0.7350 0.4302 0.6328 0.3048 0.4952 0.5876 0.5633 0.5153 0.5772 0.7317 0.4796 0.6233 0.3070 0.4885 0.5450 0.5255 het 384.30 28 19 10334663 . T G 384.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DP=28;Dels=0.00;FS=1.617;HRun=0;HaplotypeScore=1.9523;MQ=57.31;MQ0=0;MQRankSum=-1.147;QD=13.72;ReadPosRankSum=-1.976;VQSLOD=2.8869;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,16:28:99:414,0,314 19 10415781 10415781 T C exonic ZGLP1 nonsynonymous SNV ZGLP1:NM_001103167:exon4:c.A802G:p.I268V 0.11 0.0038 0.059 0.12 0.13 0.27 0.1390 0.0221 0.0541 0.1272 0.1793 0.1345 0.1790 0.2733 0.092 0.026 0.12 0.076 . rs2291473 COSM3756267;COSM3756268 1(large_intestine) . . . . . . . . . . . 0.437 0.093 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N -4.61 0.979 D 0.36 0.037 N 0.021 0.005 -0.525 0.678 T 0.014 0.056 T . . . -3.151 0.001 0.001 0.735 0.100 0.006 0.025 N c -1.979 -2.064 1.000 0.747 0.706 0.609 0 -9.24 0.006 -4.155 0.003 -0.934 0.025 0.000 0.063 0.001 0.043 5.654 0.168 . . . 0.1371 0.0184 0.0549 0.1486 0.1228 0.1881 0.1300 0.1494 0.2768 0.1017 0.0219 0.0561 0.1424 0.1258 0.1819 0.1264 0.1339 het 936.04 78 19 10415781 . T C 936.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.372;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8959;MQ=59.17;MQ0=0;MQRankSum=-0.606;QD=12.00;ReadPosRankSum=-0.331;VQSLOD=6.0889;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:966,0,1047 19 10419130 10419130 C T exonic ZGLP1 synonymous SNV ZGLP1:NM_001103167:exon1:c.G228A:p.P76P 0.25 0.33 0.21 0.11 0.29 0.29 0.2955 0.3265 0.1613 0.1113 0.3466 0.3319 0.2967 0.2863 0.31 0.28 0.32 0.32 . rs281417 COSM329626;COSM329625 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2680 0.2987 0.1489 0.2706 0.0924 0.3228 0.3147 0.2750 0.2755 0.3014 0.2971 0.1794 0.22 0.1021 0.3239 0.3285 0.3071 het 196.96 24 19 10419130 . C T 196.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.472;DP=24;Dels=0.00;FS=4.246;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=1.102;QD=8.21;ReadPosRankSum=-0.031;VQSLOD=5.2986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,9:24:99:227,0,415 19 10426628 10426628 T C exonic FDX1L synonymous SNV FDX1L:NM_001031734:exon1:c.A54G:p.L18L 0.49 0.61 0.56 0.34 0.48 0.46 0.4894 0.6029 0.5604 0.3486 0.5700 0.4769 0.5036 0.4642 0.51 0.6 0.47 0.58 0.41 rs395782 COSM5828767;COSM438465 1(thyroid);1(large_intestine) Benign not_specified RCV000440346.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4869 0.6010 0.5533 0.4213 0.3324 0.5689 0.4726 0.4776 0.4609 0.5275 0.6100 0.5661 0.4195 0.3211 0.5730 0.4900 0.5354 het 331.19 34 19 10426628 . T C 331.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.572;DP=34;Dels=0.00;FS=3.220;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.561;QD=9.74;ReadPosRankSum=-0.416;VQSLOD=5.2604;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,15:34:99:361,0,491 19 10446568 10446568 T C exonic ICAM3 nonsynonymous SNV ICAM3:NM_001320605:exon3:c.A428G:p.D143G,ICAM3:NM_001320606:exon3:c.A197G:p.D66G,ICAM3:NM_002162:exon3:c.A428G:p.D143G 0.18 0.14 0.17 0.11 0.23 0.25 0.2700 0.2073 0.2677 0.1661 0.2739 0.2805 0.2941 0.3075 0.2 0.16 0.22 0.21 0.18 rs2304237 COSM3749451 1(urinary_tract);1(thyroid);3(large_intestine);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.356 N 1 0.090 P -3.265 0.000 N 3.71 0.041 T 6.35 0.000 N 0.081 0.074 -0.977 0.356 T 0.000 0.000 T . . . -0.413 0.061 0.360 0.652 0.075 0.004 0.022 N c -1.472 -1.274 1.000 0.747 0.742 0.980 0 4.98 0.655 0.621 0.239 0.025 0.148 0.006 0.172 0.001 0.043 9.930 0.405 Immunoglobulin-like domain|Immunoglobulin-like fold|Intercellular adhesion molecule/vascular cell adhesion molecule\x2c N-terminal;Immunoglobulin-like fold|Intercellular adhesion molecule/vascular cell adhesion molecule\x2c N-terminal ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver 0.2154 0.1642 0.1861 0.2378 0.1196 0.1952 0.2298 0.2248 0.2752 0.1932 0.1597 0.1818 0.2333 0.1057 0.2034 0.2200 0.1893 het 374.45 21 19 10446568 . T C 374.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.269;DP=21;Dels=0.00;FS=5.927;HRun=2;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=0.436;QD=17.83;ReadPosRankSum=-0.611;VQSLOD=4.7653;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,15:21:86.41:404,0,86 19 10449358 10449358 T C exonic ICAM3 nonsynonymous SNV ICAM3:NM_001320605:exon2:c.A343G:p.R115G,ICAM3:NM_001320606:exon2:c.A112G:p.R38G,ICAM3:NM_002162:exon2:c.A343G:p.R115G 0.18 0.14 0.17 0.11 0.24 0.24 0.2188 0.1647 0.1893 0.1279 0.1992 0.2315 0.2362 0.2767 0.21 0.17 0.23 0.17 0.25 rs7258015 COSM1390081 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.348 0.124 T 0.0 0.026 B 0.003 0.080 B 0.720 0.099 N 1e-37 0.810 P 1.36 0.342 L 1.86 0.243 T -1.82 0.427 N 0.027 0.009 -1.027 0.215 T 0.000 0.000 T . . . -0.911 0.035 0.024 0.791 0.122 0.021 0.062 N c -1.542 -1.675 1.000 0.747 0.635 0.413 0 -11.5 0.001 -2.343 0.012 -0.351 0.070 0.026 0.200 0.046 0.161 6.787 0.227 Immunoglobulin-like domain|Immunoglobulin-like fold|Intercellular adhesion molecule\x2c N-terminal;Immunoglobulin-like domain|Immunoglobulin-like fold|Intercellular adhesion molecule\x2c N-terminal|Intercellular adhesion molecule/vascular cell adhesion molecule\x2c N-terminal ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5|ENSG00000076662.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver 0.2161 0.1620 0.1865 0.2479 0.1209 0.2034 0.2307 0.2255 0.2733 0.1941 0.1599 0.1830 0.2450 0.1062 0.2027 0.2213 0.1925 het 1366.77 142 19 10449358 . T C 1366.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.232;DP=142;Dels=0.00;FS=0.635;HRun=1;HaplotypeScore=7.1190;MQ=59.41;MQ0=0;MQRankSum=-0.183;QD=9.63;ReadPosRankSum=0.745;VQSLOD=4.4050;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,57:142:99:1397,0,2241 19 10449392 10449392 A G exonic ICAM3 synonymous SNV ICAM3:NM_001320605:exon2:c.T309C:p.S103S,ICAM3:NM_001320606:exon2:c.T78C:p.S26S,ICAM3:NM_002162:exon2:c.T309C:p.S103S 0.83 0.94 0.67 0.83 0.82 0.8 0.8173 0.9168 0.5907 0.8319 0.8429 0.8424 0.8146 0.7941 0.86 0.91 0.83 0.86 0.87 rs2304240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8077 0.9169 0.6079 0.8642 0.8357 0.8442 0.8393 0.8224 0.7943 0.8568 0.9123 0.6432 0.8609 0.8519 0.8405 0.8412 0.8473 hom 4344.60 133 19 10449392 . A G 4344.60 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;QD=32.67;VQSLOD=9.1056;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4344,334,0 19 10450285 10450285 G A exonic ICAM3 synonymous SNV ICAM3:NM_001320605:exon1:c.C6T:p.A2A,ICAM3:NM_002162:exon1:c.C6T:p.A2A 0.15 0.26 0.12 0.074 0.17 0.087 0.1580 0.2428 0.0631 0.0760 0.2329 0.1810 0.1379 0.0932 0.19 0.23 0.17 0.2 0.13 rs281414 COSM3932860 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1515 0.2422 0.0711 0.1350 0.0737 0.2302 0.1769 0.1538 0.0942 0.2066 0.2364 0.1050 0.1159 0.0765 0.2333 0.2044 0.2102 het 854.06 62 19 10450285 . G A 854.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.282;DP=62;Dels=0.00;FS=4.286;HRun=0;HaplotypeScore=1.7900;MQ=59.63;MQ0=0;MQRankSum=1.058;QD=13.78;ReadPosRankSum=0.635;VQSLOD=6.2433;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,33:62:99:884,0,825 19 10475649 10475649 C T exonic TYK2 nonsynonymous SNV TYK2:NM_003331:exon8:c.G1087A:p.G363S 0.044 0.0053 0.04 0.03 0.075 0.081 0.0640 0.0164 0.0281 0.0261 0.0703 0.0773 0.0743 0.0823 0.058 0.018 0.078 0.011 0.082 rs2304255 COSM3756273 1(large_intestine) Benign|Likely benign not_specified|Familial_Atypical_Mycobacteriosis\x2c_Autosomal_Recessive RCV000126190.2|RCV000362720.1 MedGen|MedGen CN169374|CN239257 . . . . . . 0.48 0.084 T 0.068 0.222 B 0.002 0.063 B 0.007 0.012 N 1 0.090 N 0.665 0.163 N 3.07 0.086 T 0.53 0.031 N 0.116 0.127 -0.979 0.351 T 0.001 0.003 T . . . -0.245 0.072 0.879 0.581 0.058 0.036 0.088 N c -1.486 -1.593 0.063 0.153 0.706 0.609 0 -6.36 0.018 -1.297 0.028 0.036 0.152 0.000 0.063 0.000 0.016 6.797 0.228 FERM domain ENSG00000105397.9 Artery_Tibial 0.0625 0.0148 0.0315 0.0734 0.0240 0.0674 0.0766 0.0663 0.0826 0.0555 0.0148 0.0310 0.0530 0.0284 0.0648 0.0802 0.0743 het 877.40 74 19 10475649 . C T 877.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.693;DP=74;Dels=0.00;FS=10.126;HRun=0;HaplotypeScore=4.4214;MQ=59.69;MQ0=0;MQRankSum=-1.347;QD=11.86;ReadPosRankSum=-0.278;VQSLOD=3.7226;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,32:74:99:907,0,1106 19 10527645 10527645 C G exonic PDE4A synonymous SNV PDE4A:NM_001243121:exon2:c.C27G:p.S9S 0.042 0.033 0.045 0.004 0.086 0.048 0.0875 0.06 0.1099 0.0045 0.1864 0.1407 0.0732 0.0498 0.059 0.032 0.07 0.065 . rs117320342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0584 0.0329 0.0353 0.0527 0.0009 0.0818 0.0854 0.0586 0.0472 0.0655 0.0338 0.0370 0.0695 0.0012 0.0862 0.0859 0.0920 het 34.92 10 19 10527645 . C G 34.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.546;DP=10;Dels=0.00;FS=3.802;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.296;QD=3.49;ReadPosRankSum=0.296;VQSLOD=2.6134;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,3:10:64.91:65,0,185 19 10600442 10600442 G C exonic KEAP1 synonymous SNV KEAP1:NM_012289:exon4:c.C1413G:p.L471L,KEAP1:NM_203500:exon4:c.C1413G:p.L471L 0.51 0.75 0.3 0.53 0.35 0.46 0.4203 0.6997 0.2960 0.5254 0.4055 0.3803 0.4133 0.4440 0.48 0.68 0.37 0.56 0.37 rs1048290 COSM148507 1(breast);1(stomach);1(haematopoietic_and_lymphoid_tissue);17(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4118 0.7022 0.3080 0.4102 0.5306 0.4138 0.3756 0.4004 0.4466 0.4760 0.6959 0.3230 0.4007 0.57 0.4091 0.3681 0.4012 het 976.61 82 19 10600442 . G C 976.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.659;DP=82;Dels=0.00;FS=12.509;HRun=0;HaplotypeScore=2.7202;MQ=59.72;MQ0=0;MQRankSum=0.780;QD=11.91;ReadPosRankSum=0.360;VQSLOD=3.7123;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,36:82:99:1007,0,1294 19 10625067 10625067 A C exonic S1PR5 synonymous SNV S1PR5:NM_001166215:exon2:c.T621G:p.A207A,S1PR5:NM_030760:exon2:c.T621G:p.A207A 0.81 0.76 0.84 0.78 0.8 0.91 0.8109 0.7810 0.8737 0.7818 0.8135 0.7869 0.8228 0.8926 0.78 0.77 0.78 0.74 0.56 rs6511701 COSM438486 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8050 0.7692 0.8640 0.7487 0.7668 0.8080 0.7793 0.7839 0.8872 0.7827 0.7766 0.8693 0.7285 0.7364 0.8084 0.7803 0.8020 hom 459.68 16 19 10625067 . A C 459.68 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.63;MQ0=0;QD=28.73;VQSLOD=7.4495;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:42.10:493,42,0 19 10668452 10668452 A G exonic KRI1 synonymous SNV KRI1:NM_023008:exon15:c.T1497C:p.F499F 0.69 0.44 0.8 0.94 0.67 0.73 0.6943 0.4551 0.8627 0.9573 0.6220 0.6621 0.6786 0.7481 0.6 0.45 0.67 0.69 0.67 rs3745255 COSM3756284 1(large_intestine);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7059 0.4537 0.8530 0.7054 0.9560 0.6088 0.6631 0.7032 0.7549 0.6178 0.4570 0.8019 0.6589 0.9488 0.6167 0.6615 0.6643 het 610.29 63 19 10668452 . A G 610.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.073;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.41;MQ0=0;MQRankSum=0.729;QD=9.69;ReadPosRankSum=-0.701;VQSLOD=6.6904;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,24:63:99:640,0,1171 19 10672493 10672493 C T exonic KRI1 nonsynonymous SNV KRI1:NM_023008:exon5:c.G430A:p.G144R 0.26 0.14 0.25 0.2 0.4 0.35 0.3376 0.1615 0.2579 0.2168 0.3916 0.3843 0.3510 0.3561 0.31 0.17 0.38 0.25 0.42 rs12984043 COSM148508 1(stomach);1(prostate);1(large_intestine) . . . . . . . . . . . 0.358 0.120 T 0.028 0.209 B 0.005 0.104 B 0.051 0.230 N 0.988 0.245 P 2.585 0.758 M 1.47 0.320 T -0.75 0.240 N 0.079 0.314 -0.932 0.439 T 0.000 0.000 T . . . 0.854 0.175 9.795 0.638 0.071 0.926 0.559 D c -0.713 -0.692 0.021 0.133 0.732 0.924 0 1.67 0.230 2.445 0.443 -0.367 0.067 0.600 0.275 0.000 0.016 8.125 0.300 . ENSG00000129347.15|ENSG00000129354.7 Muscle_Skeletal|Thyroid 0.3395 0.1626 0.2759 0.3326 0.2225 0.3831 0.3862 0.3614 0.3591 0.3111 0.1698 0.2931 0.2933 0.2305 0.3879 0.3823 0.3588 het 1551.75 154 19 10672493 . C T 1551.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.230;DP=154;Dels=0.00;FS=6.125;HRun=0;HaplotypeScore=4.9860;MQ=59.34;MQ0=0;MQRankSum=0.945;QD=10.08;ReadPosRankSum=0.188;VQSLOD=4.7978;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,58:154:99:1582,0,2449 19 10676423 10676423 G A exonic KRI1 synonymous SNV KRI1:NM_023008:exon2:c.C156T:p.S52S 0.61 0.75 0.47 0.35 0.78 0.6 0.7088 0.7631 0.5488 0.4731 0.7761 0.7693 0.7073 0.6160 0.75 0.75 0.75 0.67 0.31 rs3745245 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6448 0.7376 0.4444 0.5920 0.3383 0.7660 0.7499 0.6698 0.5930 0.7234 0.7540 0.5048 0.6060 0.3659 0.7640 0.7509 0.7098 het 94.18 11 19 10676423 . G A 94.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.181;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.143;QD=8.56;ReadPosRankSum=0.387;VQSLOD=11.4027;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:124,0,169 19 10679240 10679240 C G exonic CDKN2D synonymous SNV CDKN2D:NM_001800:exon1:c.G90C:p.R30R,CDKN2D:NM_079421:exon2:c.G90C:p.R30R 0.97 1. 0.96 1. 0.95 0.94 0.9601 0.9927 0.9766 0.9974 0.9508 0.9524 0.9513 0.9471 0.97 0.99 0.95 0.76 0.27 rs1968445 COSM3749455 10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9542 0.9921 0.9746 0.9015 0.9983 0.9385 0.9510 0.9433 0.9432 0.9611 0.9895 0.9735 0.8841 1 0.9393 0.9473 0.9446 het 159.14 10 19 10679240 . C G 159.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.166;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=60.00;MQ0=0;MQRankSum=1.580;QD=15.91;ReadPosRankSum=-1.580;VQSLOD=5.1252;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:88.53:189,0,89 19 10738639 10738639 C T exonic SLC44A2 synonymous SNV SLC44A2:NM_001145056:exon4:c.C198T:p.D66D,SLC44A2:NM_020428:exon4:c.C204T:p.D68D 0.79 0.86 0.84 0.71 0.76 0.75 0.7932 0.8366 0.8828 0.6874 0.8232 0.7895 0.7737 0.7629 0.8 0.84 0.79 0.74 0.72 rs3087969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7931 0.8332 0.8786 0.7571 0.6854 0.8236 0.7851 0.7826 0.7609 0.8073 0.8412 0.8681 0.7815 0.6869 0.8249 0.7929 0.8166 hom 1930.34 64 19 10738639 . C T 1930.34 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5508;MQ=58.69;MQ0=0;QD=30.16;VQSLOD=9.1455;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1963,159,0 19 10742170 10742170 A G exonic SLC44A2 nonsynonymous SNV SLC44A2:NM_001145056:exon7:c.A455G:p.Q152R,SLC44A2:NM_020428:exon7:c.A461G:p.Q154R 0.82 0.97 0.85 0.71 0.76 0.75 0.8041 0.9363 0.8883 0.6909 0.8227 0.7906 0.7753 0.7697 0.84 0.93 0.79 0.78 0.75 rs2288904 COSM3736189 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.070 0.215 N 1 0.090 P -1.46 0.005 N 2.31 0.168 T 0.51 0.029 N 0.005 0.000 -0.984 0.342 T 0.000 0.000 T . . . 0.600 0.151 8.159 0.206 0.007 0.071 0.130 N c -1.185 -1.001 0.996 0.342 0.707 0.730 0 4.87 0.627 0.829 0.269 0.138 0.222 0.010 0.182 0.843 0.352 9.472 0.378 . ENSG00000129353.10|ENSG00000129353.10 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.8016 0.9380 0.8830 0.7570 0.6861 0.8238 0.7860 0.7856 0.7671 0.8348 0.9362 0.8699 0.7815 0.6863 0.8253 0.7939 0.8218 hom 3413.68 119 19 10742170 . A G 3413.68 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8792;MQ=60.00;MQ0=0;QD=28.69;VQSLOD=6.5920;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,118:119:99:3413,283,0 19 10794630 10794630 G T exonic ILF3 synonymous SNV ILF3:NM_001137673:exon17:c.G2055T:p.S685S,ILF3:NM_004516:exon17:c.G2043T:p.S681S,ILF3:NM_012218:exon17:c.G2043T:p.S681S,ILF3:NM_017620:exon17:c.G2055T:p.S685S,ILF3:NM_153464:exon17:c.G2043T:p.S681S 0.66 0.69 0.77 0.64 0.6 0.64 0.6731 0.6784 0.8116 0.6414 0.7097 0.6520 0.6366 0.6617 0.66 0.68 0.65 0.51 0.55 rs2229383 COSM5427291;COSM5427290;COSM5427292 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6769 0.6747 0.7980 0.6661 0.6375 0.7198 0.6452 0.6557 0.6593 0.6791 0.6802 0.7804 0.6788 0.6455 0.7235 0.6661 0.6772 hom 5845.80 183 19 10794630 . G T 5845.80 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8199;MQ=59.67;MQ0=0;QD=31.94;VQSLOD=8.0268;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:5845,451,0 19 10939792 10939792 T C exonic DNM2 synonymous SNV DNM2:NM_001005362:exon18:c.T2127C:p.A709A,DNM2:NM_004945:exon18:c.T2127C:p.A709A,DNM2:NM_001005360:exon19:c.T2139C:p.A713A,DNM2:NM_001005361:exon19:c.T2139C:p.A713A,DNM2:NM_001190716:exon19:c.T2139C:p.A713A 0.34 0.26 0.27 0.56 0.29 0.31 0.3115 0.2827 0.2601 0.5759 0.3206 0.2884 0.3345 0.3150 0.28 0.26 0.29 0.34 0.35 rs2229920 COSM3766265;COSM3766266;COSM3766264 1(haematopoietic_and_lymphoid_tissue);2(urinary_tract);1(liver);1(thyroid) other|Benign|Benign not_specified|Centronuclear_Myopathy\x2c_Dominant|Charcot-Marie-Tooth\x2c_Intermediate RCV000145914.3|RCV000312099.1|RCV000371358.1 MedGen|MedGen|MedGen CN169374|CN239281|CN239334 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3114 0.2821 0.2540 0.3183 0.5643 0.3222 0.2905 0.3110 0.3126 0.3020 0.2841 0.2536 0.3510 0.5886 0.3310 0.2788 0.2669 het 1080.78 78 19 10939792 . T C 1080.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.894;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6266;MQ=59.41;MQ0=0;MQRankSum=-0.730;QD=13.86;ReadPosRankSum=1.526;VQSLOD=5.4533;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,42:78:99:1111,0,1065 19 11097098 11097098 C T exonic SMARCA4 nonsynonymous SNV SMARCA4:NM_001128845:exon3:c.C589T:p.P197S,SMARCA4:NM_001128846:exon3:c.C589T:p.P197S,SMARCA4:NM_001128847:exon3:c.C589T:p.P197S,SMARCA4:NM_001128848:exon3:c.C589T:p.P197S,SMARCA4:NM_001128849:exon4:c.C589T:p.P197S,SMARCA4:NM_003072:exon4:c.C589T:p.P197S,SMARCA4:NM_001128844:exon5:c.C589T:p.P197S 0.0014 . 0.0014 . 0.003 0.0031 0.0057 0.0003 0.0014 0 0.0231 0.0049 0.0081 0.0096 0.0009 0.0002 0.0013 . 0.0082 rs200664441 COSM30574 1(breast);1(meninges) Likely benign|Benign|Likely benign not_specified|Rhabdoid_tumor_predisposition_syndrome_2|Coffin-Siris_syndrome RCV000122065.3|RCV000206695.2|RCV000382351.1 MedGen|MedGen:OMIM|MedGen:Orphanet:SNOMED_CT CN169374|C2750074:613325|C0265338:ORPHA1465:10007009 . . . . . . 0.178 0.221 T 0.997 0.689 D 0.992 0.790 D 0.000 0.843 D 1.000 0.588 D 1.01 0.254 L -2.37 0.882 D -2.54 0.550 D 0.568 0.600 0.313 0.878 D 0.708 0.900 D . . . 4.875 0.655 24.9 0.999 0.971 0.980 0.789 D c 0.509 0.496 1.000 0.747 0.707 0.730 0 4.32 0.507 7.830 0.848 0.935 0.490 1.000 0.715 0.369 0.249 15.759 0.777 Glutamine-Leucine-Glutamine\x2c QLQ . . 0.0030 0.0001 0.0002 0.0008 0 0.0100 0.0023 0.0026 0.0071 0.0030 0 0 0 0 0.0115 0.0033 0.0031 het 99.32 12 19 11097098 . C T 99.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.047;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=-0.259;QD=8.28;ReadPosRankSum=-1.718;VQSLOD=4.1687;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:129,0,171 19 11105608 11105608 T C exonic SMARCA4 synonymous SNV SMARCA4:NM_001128845:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128846:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128847:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128848:exon8:c.T1524C:p.H508H,SMARCA4:NM_001128849:exon9:c.T1524C:p.H508H,SMARCA4:NM_003072:exon9:c.T1524C:p.H508H,SMARCA4:NM_001128844:exon10:c.T1524C:p.H508H 0.31 0.31 0.21 0.26 0.35 0.39 0.3353 0.3111 0.1849 0.2383 0.3618 0.3487 0.3878 0.4378 0.33 0.3 0.34 0.32 0.44 rs7935 COSM4131184;COSM4131185 11(soft_tissue);2(thyroid) Benign|Benign not_specified|Coffin-Siris_syndrome RCV000114302.3|RCV000264120.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265338:ORPHA1465:10007009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3280 0.3018 0.1885 0.3393 0.2341 0.3603 0.3501 0.3436 0.4355 0.3248 0.3065 0.2127 0.3808 0.2372 0.3672 0.3390 0.3415 het 845.17 72 19 11105608 . T C 845.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.623;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=-0.784;QD=11.74;ReadPosRankSum=-0.028;VQSLOD=6.5820;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,34:72:99:875,0,962 19 11145691 11145691 C T exonic SMARCA4 synonymous SNV SMARCA4:NM_001128845:exon27:c.C3954T:p.D1318D,SMARCA4:NM_001128846:exon27:c.C3954T:p.D1318D,SMARCA4:NM_001128847:exon27:c.C3954T:p.D1318D,SMARCA4:NM_001128848:exon27:c.C3954T:p.D1318D,SMARCA4:NM_001128849:exon29:c.C4053T:p.D1351D,SMARCA4:NM_003072:exon29:c.C4053T:p.D1351D,SMARCA4:NM_001128844:exon30:c.C4053T:p.D1351D 0.047 0.0045 0.035 0.044 0.067 0.097 0.0727 0.0159 0.0361 0.0386 0.1200 0.0752 0.0747 0.1215 0.046 0.013 0.063 0.043 0.057 rs28997582 COSM5019894;COSM5019893 1(soft_tissue) Benign|Benign not_specified|Coffin-Siris_syndrome RCV000114305.3|RCV000343711.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265338:ORPHA1465:10007009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0610 0.0117 0.0291 0.0668 0.0336 0.0874 0.0639 0.0694 0.1030 0.0496 0.0123 0.0432 0.0662 0.0327 0.0901 0.0622 0.0743 het 452.97 38 19 11145691 . C T 452.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.106;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;MQRankSum=-0.349;QD=11.92;ReadPosRankSum=0.258;VQSLOD=7.0468;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,19:38:99:483,0,495 19 11227554 11227554 C T exonic LDLR synonymous SNV LDLR:NM_001195800:exon10:c.C1221T:p.L407L,LDLR:NM_001195799:exon11:c.C1602T:p.L534L,LDLR:NM_001195803:exon11:c.C1344T:p.L448L,LDLR:NM_000527:exon12:c.C1725T:p.L575L,LDLR:NM_001195798:exon12:c.C1725T:p.L575L 0.089 0.079 0.072 0.003 0.16 0.13 0.1158 0.0849 0.0659 0.0064 0.1302 0.1377 0.1377 0.1323 0.11 0.084 0.12 0.11 0.11 rs1799898 COSM5652862 2(haematopoietic_and_lymphoid_tissue) other|Benign Familial_hypercholesterolemia|not_specified RCV000238053.3|RCV000247994.2 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen C0020445:143890:397915002:398036000|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1130 0.0812 0.0698 0.1339 0.0066 0.1254 0.1360 0.1312 0.1332 0.1116 0.0851 0.0851 0.1589 0.0124 0.1274 0.1321 0.15 het 4539.20 249 19 11227554 . C T 4539.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.692;DP=249;DS;Dels=0.00;FS=3.598;HRun=1;HaplotypeScore=7.6647;MQ=59.09;MQ0=0;MQRankSum=1.161;QD=18.23;ReadPosRankSum=0.538;VQSLOD=3.9087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,135:249:99:3870,0,3160 19 11233941 11233941 A G exonic LDLR synonymous SNV LDLR:NM_001195800:exon13:c.A1728G:p.R576R,LDLR:NM_001195803:exon13:c.A1698G:p.R566R,LDLR:NM_001195799:exon14:c.A2109G:p.R703R,LDLR:NM_000527:exon15:c.A2232G:p.R744R,LDLR:NM_001195798:exon15:c.A2232G:p.R744R 0.78 0.65 0.85 0.96 0.73 0.78 0.7762 0.6826 0.8858 0.9512 0.7698 0.7557 0.7572 0.7529 0.74 0.69 0.77 0.61 0.78 rs5927 COSM4131191 1(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign Familial_hypercholesterolemia|not_specified RCV000238103.3|RCV000252146.2 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen C0020445:143890:397915002:398036000|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7808 0.6845 0.8822 0.7376 0.9480 0.7668 0.7535 0.7668 0.7499 0.7480 0.6849 0.8484 0.7053 0.9491 0.7702 0.7530 0.75 hom 3420.45 98 19 11233941 . A G 3420.45 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.29;MQ0=0;QD=34.90;VQSLOD=9.8490;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3420,268,0 19 11319491 11319491 G A exonic DOCK6 synonymous SNV DOCK6:NM_020812:exon39:c.C4959T:p.N1653N 0.44 0.26 0.47 0.46 0.6 0.47 0.5387 0.3117 0.5228 0.4757 0.5216 0.5945 0.5856 0.4960 0.49 0.3 0.58 0.46 . rs8409 COSM5828778;COSM3756300 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5408 0.3103 0.5365 0.6540 0.4758 0.5212 0.5888 0.5675 0.4955 0.4896 0.3012 0.5442 0.6656 0.4777 0.5212 0.5847 0.5174 hom 2277.16 73 19 11319491 . G A 2277.16 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.1790;MQ=60.00;MQ0=0;QD=31.19;VQSLOD=9.1321;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2310,187,0 19 11326119 11326119 A G exonic DOCK6 synonymous SNV DOCK6:NM_020812:exon32:c.T4050C:p.N1350N 0.5 0.41 0.51 0.51 0.63 0.47 0.5701 0.4486 0.5361 0.5075 0.5453 0.6208 0.6041 0.5028 0.58 0.47 0.63 0.56 . rs2304155 COSM3756301;COSM5828781 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5695 0.4400 0.5532 0.6462 0.5123 0.5458 0.6167 0.5962 0.5004 0.5477 0.4256 0.5718 0.6567 0.5132 0.5516 0.6180 0.5546 hom 1299.74 44 19 11326119 . A G 1299.74 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=29.54;VQSLOD=8.3011;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1333,105,0 19 11326125 11326125 C T exonic DOCK6 synonymous SNV DOCK6:NM_020812:exon32:c.G4044A:p.P1348P 0.45 0.24 0.49 0.51 0.63 0.47 0.5565 0.3008 0.5257 0.5063 0.5456 0.6199 0.6 0.5012 0.53 0.33 0.62 0.48 . rs2304154 COSM5828782;COSM3756302 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5576 0.2924 0.5421 0.6448 0.5116 0.5459 0.6153 0.5885 0.4990 0.5085 0.2890 0.5538 0.6533 0.5144 0.5513 0.6168 0.5495 hom 1377.06 43 19 11326125 . C T 1377.06 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.98;MQ0=0;QD=32.02;VQSLOD=9.0891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1410,108,0 19 11327608 11327608 T C exonic DOCK6 synonymous SNV DOCK6:NM_020812:exon30:c.A3876G:p.L1292L 0.59 0.59 0.57 0.58 0.68 0.55 0.6476 0.6163 0.5769 0.5920 0.6126 0.6910 0.6897 0.5816 0.68 0.64 0.7 0.65 . rs4804151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6457 0.6214 0.5927 0.7332 0.5927 0.6147 0.6884 0.6631 0.5817 0.6514 0.6092 0.6217 0.7318 0.5938 0.6207 0.6918 0.6165 hom 3938.55 129 19 11327608 . T C 3938.55 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.45;MQ0=0;QD=30.53;VQSLOD=8.9636;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3938,298,0 19 11327626 11327626 A G exonic DOCK6 synonymous SNV DOCK6:NM_020812:exon30:c.T3858C:p.D1286D 0.58 0.54 0.56 0.58 0.68 0.54 0.6436 0.5713 0.5748 0.5918 0.6126 0.6908 0.6875 0.5811 0.66 0.59 0.7 0.65 . rs4804152 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6420 0.5725 0.5899 0.7331 0.5927 0.6149 0.6881 0.6614 0.5813 0.6388 0.5638 0.6184 0.7318 0.5955 0.6214 0.6922 0.6166 hom 3954.28 132 19 11327626 . A G 3954.28 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=29.96;VQSLOD=9.0102;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:3954,301,0 19 11332570 11332570 T A exonic DOCK6 synonymous SNV DOCK6:NM_020812:exon28:c.A3507T:p.L1169L 0.31 0.56 0.26 0.3 0.14 0.21 0.2433 0.5226 0.3296 0.3385 0.1926 0.1847 0.2116 0.2261 0.29 0.48 0.19 0.39 . rs3810307 COSM5828787;COSM3756303 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2395 0.5303 0.3227 0.1326 0.3386 0.1927 0.1835 0.2065 0.2255 0.2979 0.5152 0.3019 0.1291 0.3530 0.1986 0.1983 0.2051 het 2772.71 227 19 11332570 . T A 2772.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.592;DP=227;DS;Dels=0.00;FS=3.840;HRun=1;HaplotypeScore=8.3024;MQ=59.12;MQ0=0;MQRankSum=2.052;QD=12.21;ReadPosRankSum=0.514;VQSLOD=3.9871;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,105:227:99:2803,0,3268 19 11358799 11358799 G A exonic DOCK6 nonsynonymous SNV DOCK6:NM_020812:exon7:c.C749T:p.P250L 0.52 0.12 0.63 0.54 0.73 0.75 0.6466 0.2168 0.5734 0.5162 0.6779 0.7080 0.6596 0.7314 0.55 0.24 0.7 0.42 . rs12978266 COSM3756307 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000244378.1 MedGen CN169374 . . . . . . 0.003 0.682 D 0.982 0.581 D 0.839 0.583 P 0.000 0.523 D 0.000 0.588 P 2.685 0.788 M 2.35 0.162 T -7.86 0.961 D 0.324 0.385 -1.052 0.138 T 0.000 0.000 T . . . 3.313 0.457 22.9 0.998 0.928 0.959 0.664 D c 0.464 0.363 1.000 0.407 0.722 0.854 0 5.05 0.674 7.731 0.837 1.048 0.713 1.000 0.715 0.417 0.257 15.901 0.791 . ENSG00000130158.9|ENSG00000130158.9|ENSG00000267174.1|ENSG00000130158.9|ENSG00000105520.6|ENSG00000130158.9|ENSG00000130158.9|ENSG00000267174.1 Adipose_Subcutaneous|Esophagus_Gastroesophageal_Junction|Lung|Muscle_Skeletal|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.6406 0.1888 0.5667 0.7628 0.5087 0.6658 0.7043 0.6906 0.7212 0.5428 0.2009 0.5837 0.78 0.5093 0.6663 0.7020 0.6660 het 338.12 36 19 11358799 . G A 338.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.317;DP=36;Dels=0.00;FS=1.320;HRun=0;HaplotypeScore=0.7887;MQ=58.96;MQ0=0;MQRankSum=1.750;QD=9.39;ReadPosRankSum=0.317;VQSLOD=6.2051;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,15:36:99:368,0,540 19 11465316 11465316 G C exonic CCDC159 nonsynonymous SNV CCDC159:NM_001080503:exon10:c.G833C:p.C278S 0.38 0.45 0.37 0.28 0.45 0.3 0.4671 0.5026 0.5098 0.3194 0.4784 0.5019 0.4683 0.3467 0.46 0.44 0.47 0.41 . rs6887 COSM3756309;COSM3756308 1(large_intestine) . . . . . . . . . . . 0.794 0.032 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.895 0.014 N 1.08 0.394 T 1.72 0.006 N 0.014 0.002 -0.914 0.464 T 0.000 0.000 T . . . -1.123 0.028 0.009 0.651 0.075 0.010 0.038 N c -1.542 -1.467 0.999 0.373 0.706 0.609 0 0.299 0.150 -0.067 0.114 -0.587 0.045 0.002 0.151 0.136 0.201 8.676 0.332 . ENSG00000105520.6|ENSG00000105520.6|ENSG00000183401.7|ENSG00000105520.6|ENSG00000105520.6|ENSG00000105520.6|ENSG00000105520.6|ENSG00000105520.6|ENSG00000105520.6|ENSG00000105520.6|ENSG00000105520.6|ENSG00000105520.6 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Testis|Thyroid 0.4156 0.4590 0.4295 0.4992 0.2619 0.3913 0.4576 0.4239 0.3066 0.4420 0.4601 0.4379 0.4636 0.2605 0.3872 0.4650 0.4239 het 232.87 20 19 11465316 . G C 232.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.230;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9557;MQ=60.00;MQ0=0;MQRankSum=0.265;QD=11.64;ReadPosRankSum=0.416;VQSLOD=5.6241;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:263,0,275 19 11526759 11526759 G A exonic RGL3 nonsynonymous SNV RGL3:NM_001035223:exon5:c.C491T:p.A164V,RGL3:NM_001161616:exon5:c.C491T:p.A164V 0.64 0.67 0.72 0.68 0.6 0.53 0.6067 0.6749 0.7442 0.6652 0.6423 0.5780 0.5953 0.5385 0.61 0.67 0.58 0.71 0.49 rs160838 COSM4131203;COSM4131202 1(thyroid) . . . . . . . . . . . 0.269 0.237 T 0.082 0.368 B 0.065 0.343 B 0.742 0.098 N 0.987 0.246 P 1.61 0.413 L 0.7 0.515 T -1.38 0.358 N 0.071 0.360 -0.946 0.417 T 0.000 0.000 T . . . 2.470 0.358 19.28 0.992 0.559 0.797 0.393 D c -0.258 -0.164 0.001 0.081 0.635 0.413 0 2.56 0.297 1.511 0.352 0.004 0.136 0.715 0.285 0.167 0.209 8.122 0.300 Ras guanine nucleotide exchange factor domain|Ras-like guanine nucleotide exchange factor\x2c N-terminal . . 0.6107 0.6757 0.7355 0.4462 0.6688 0.6489 0.5817 0.5952 0.5439 0.6188 0.6662 0.6921 0.4238 0.6710 0.6358 0.5837 0.5835 het 816.83 66 19 11526759 . G A 816.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.472;DP=66;Dels=0.00;FS=2.113;HRun=0;HaplotypeScore=3.6079;MQ=59.65;MQ0=0;MQRankSum=1.315;QD=12.38;ReadPosRankSum=0.545;VQSLOD=5.7546;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,32:66:99:847,0,1063 19 11526765 11526765 G T exonic RGL3 nonsynonymous SNV RGL3:NM_001035223:exon5:c.C485A:p.P162H,RGL3:NM_001161616:exon5:c.C485A:p.P162H 0.45 0.19 0.55 0.48 0.46 0.68 0.4952 0.2364 0.5795 0.4871 0.4218 0.4889 0.4977 0.6521 0.4 0.24 0.48 0.3 0.25 rs167479 COSM3723357;COSM3723356 1(breast);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4985 0.2235 0.5851 0.5920 0.4773 0.4138 0.4833 0.4976 0.6414 0.4056 0.2311 0.5670 0.5894 0.4491 0.4247 0.4798 0.4918 het 881.08 62 19 11526765 . G T 881.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.796;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3207;MQ=59.63;MQ0=0;MQRankSum=-1.120;QD=14.21;ReadPosRankSum=-0.247;VQSLOD=5.1474;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,30:62:99:911,0,964 19 11558275 11558275 G A exonic PRKCSH nonsynonymous SNV PRKCSH:NM_001289102:exon10:c.G871A:p.A291T,PRKCSH:NM_001001329:exon11:c.G871A:p.A291T,PRKCSH:NM_001289103:exon11:c.G871A:p.A291T,PRKCSH:NM_001289104:exon11:c.G871A:p.A291T,PRKCSH:NM_002743:exon11:c.G871A:p.A291T 0.091 0.026 0.12 0.025 0.23 0.09 0.1733 0.0499 0.1276 0.0308 0.2991 0.2220 0.1789 0.1112 0.16 0.059 0.22 0.076 0.22 rs11557488 COSM4998040 1(pancreas) Benign|Benign not_specified|Polycystic_liver_disease RCV000080027.6|RCV000381668.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0006557:CN005712 . . . . . . . . . 0.22 0.286 B 0.036 0.216 B 0.765 0.096 N 1 0.090 P 2.095 0.583 M -0.66 0.725 T . . . 0.058 0.041 -1.093 0.051 T 0.000 0.000 T . . . 0.490 0.141 7.355 0.977 0.346 0.261 0.227 N c -0.940 -0.986 0.034 0.141 0.707 0.730 0 1.41 0.214 1.754 0.378 0.902 0.416 0.009 0.180 0.004 0.083 7.787 0.281 . . . 0.1706 0.0457 0.1257 0.0917 0.0281 0.2917 0.2235 0.1596 0.1110 0.1696 0.0510 0.1181 0.0960 0.0216 0.2822 0.2302 0.2131 het 618.60 52 19 11558275 . G A 618.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.104;DP=52;Dels=0.00;FS=4.467;HRun=1;HaplotypeScore=0.9159;MQ=58.20;MQ0=0;MQRankSum=0.483;QD=11.90;ReadPosRankSum=0.350;VQSLOD=5.1088;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,24:52:99:649,0,714 19 11558341 11558343 GAG - exonic PRKCSH nonframeshift deletion PRKCSH:NM_001289102:exon10:c.937_939del:p.E325del,PRKCSH:NM_001001329:exon11:c.937_939del:p.E325del,PRKCSH:NM_001289103:exon11:c.937_939del:p.E325del,PRKCSH:NM_001289104:exon11:c.937_939del:p.E325del,PRKCSH:NM_002743:exon11:c.937_939del:p.E325del 0.45 0.56 0.43 0.37 0.42 0.42 0.3850 0.4437 0.4188 0.3464 0.4377 0.3772 0.3684 0.3685 . . . . . rs754798312 COSM5713331;COSM438565 1(urinary_tract);2(central_nervous_system) other|Benign not_specified|Polycystic_liver_disease RCV000080029.6|RCV000377384.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0006557:CN005712 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3581 0.4093 0.3652 0.3139 0.3568 0.3999 0.3488 0.3466 0.3480 0.3868 0.4394 0.3577 0.3112 0.3142 0.4064 0.3631 0.3833 het 530.95 42 19 11558340 . AGAG A 530.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.360;DP=42;FS=0.000;HRun=0;HaplotypeScore=186.8034;MQ=60.45;MQ0=0;MQRankSum=0.517;QD=12.64;ReadPosRankSum=0.652;set=variant2 GT:AD:DP:GQ:PL 0/1:24,17:42:99:570,0,561 19 11617073 11617073 C T exonic ECSIT nonsynonymous SNV ECSIT:NM_001142465:exon6:c.G580A:p.E194K,ECSIT:NM_016581:exon8:c.G1222A:p.E408K 0.013 0.0023 0.016 . 0.048 0.0041 0.0261 0.0062 0.0108 0 0.0492 0.0381 0.0219 0.0061 0.025 0.0071 0.035 0.033 0.0082 rs35513404 . . . . . . . . . . . . . 0.249 0.269 T 0.903 0.478 P 0.406 0.429 B 0.494 0.120 N 1 0.248 N 1.495 0.376 L 1.46 0.322 T -0.84 0.229 N 0.084 0.294 -1.095 0.048 T 0.015 0.061 T . . . 1.919 0.291 15.70 0.980 0.373 0.051 0.107 N c -0.276 -0.334 1.000 0.747 0.442 0.072 0 4.53 0.548 0.493 0.220 0.887 0.390 0.000 0.063 0.025 0.141 12.599 0.557 . . . 0.0256 0.0052 0.0102 0.0400 0 0.0498 0.0368 0.0218 0.0059 0.0299 0.0062 0.0191 0.0397 0 0.0484 0.0437 0.0194 het 987.73 74 19 11617073 . C T 987.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.558;DP=74;Dels=0.00;FS=10.587;HRun=1;HaplotypeScore=0.9993;MQ=59.06;MQ0=0;MQRankSum=-0.492;QD=13.35;ReadPosRankSum=1.054;VQSLOD=3.8582;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,38:74:99:1018,0,1084 19 11618630 11618630 G A exonic ECSIT nonsynonymous SNV ECSIT:NM_001142465:exon4:c.C190T:p.R64C,ECSIT:NM_016581:exon6:c.C832T:p.R278C 0.024 0.0023 0.036 . 0.084 0.0072 0.0503 0.0123 0.0226 0 0.1011 0.0730 0.0462 0.0077 . . . 0.054 0.041 rs34803265 COSM4597602 1(breast);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.05 0.395 D 0.999 0.764 D 0.736 0.537 P 0.015 0.285 N 0.016 0.588 P 2.14 0.601 M 0.89 0.456 T -4.2 0.757 D 0.273 0.396 -1.034 0.192 T 0.007 0.022 T . . . 4.114 0.552 23.8 0.997 0.795 0.497 0.282 N c -0.017 0.050 1.000 0.747 0.706 0.609 0 4.83 0.617 1.028 0.295 0.902 0.416 0.662 0.280 0.941 0.415 12.602 0.557 ECSIT\x2c C-terminal domain . . 0.0469 0.0099 0.0221 0.0476 0 0.0941 0.0685 0.0468 0.0072 0.0532 0.0108 0.0370 0.0563 0 0.0836 0.0779 0.0461 het 604.91 49 19 11618630 . G A 604.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.683;DP=49;Dels=0.00;FS=5.167;HRun=0;HaplotypeScore=2.7267;MQ=58.76;MQ0=0;MQRankSum=0.083;QD=12.35;ReadPosRankSum=2.265;VQSLOD=4.8126;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,21:49:99:635,0,751 19 11891003 11891003 G A exonic ZNF441 nonsynonymous SNV ZNF441:NM_152355:exon4:c.G364A:p.V122I 0.89 0.97 0.86 0.95 0.79 0.86 0.8304 0.9466 0.8564 0.9472 0.7652 0.7858 0.8381 0.8837 0.84 0.95 0.79 0.94 0.84 rs799193 COSM3756310;COSM3756311 1(large_intestine) . . . . . . . . . . . 0.419 0.098 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.4 0.030 N 3.52 0.049 T 0.49 0.030 N 0.008 0.001 -1.084 0.065 T 0.000 0.000 T . . . -0.376 0.063 0.443 0.264 0.013 0.000 0.000 N c -1.506 -1.562 0.000 0.063 0.563 0.310 0 0.166 0.142 0.591 0.235 -0.621 0.043 0.000 0.063 0.000 0.016 4.270 0.102 . ENSG00000267500.1 Esophagus_Muscularis 0.8270 0.9488 0.8486 0.7589 0.9490 0.7728 0.7867 0.8103 0.8852 0.8389 0.9491 0.8529 0.7417 0.9574 0.7785 0.7813 0.7770 hom 2648.05 84 19 11891003 . G A 2648.05 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=31.52;VQSLOD=9.2362;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2681,211,0 19 11942362 11942362 A G exonic ZNF440 nonsynonymous SNV ZNF440:NM_152357:exon4:c.A371G:p.N124S 0.54 0.87 0.47 0.42 0.4 0.38 0.4454 0.8067 0.4179 0.4006 0.3706 0.4228 0.4141 0.3835 0.55 0.8 0.43 0.64 0.33 rs427880 COSM3756312 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.097 0.506 T 0.038 0.196 B 0.024 0.190 B . . . 1 0.090 P 0.205 0.094 N 3.26 0.067 T -2.23 0.506 N 0.008 0.031 -1.083 0.067 T 0.000 0.000 T . . . -1.368 0.020 0.004 0.395 0.027 0.024 0.068 N c -1.370 -1.487 0.000 0.029 0.563 0.310 0 -0.224 0.124 0.136 0.157 -0.803 0.032 0.000 0.063 0.001 0.043 4.354 0.105 . ENSG00000171295.8|ENSG00000177599.8 Pancreas|Thyroid 0.4311 0.8102 0.4101 0.4237 0.3985 0.3657 0.4173 0.4180 0.3858 0.5145 0.8019 0.4248 0.4172 0.3864 0.3593 0.4125 0.3881 het 3193.21 250 19 11942362 . A G 3193.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.281;DP=250;DS;Dels=0.00;FS=2.807;HRun=0;HaplotypeScore=9.8577;MQ=58.04;MQ0=0;MQRankSum=0.563;QD=12.77;ReadPosRankSum=1.534;VQSLOD=3.1022;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,121:250:99:3223,0,3294 19 11942615 11942615 A C exonic ZNF440 synonymous SNV ZNF440:NM_152357:exon4:c.A624C:p.A208A 0.54 0.87 0.47 0.42 0.4 0.38 0.4452 0.8066 0.4176 0.3973 0.3707 0.4229 0.4141 0.3838 0.55 0.8 0.43 0.64 0.33 rs394416 COSM148513 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4308 0.8103 0.4101 0.4237 0.3948 0.3655 0.4173 0.4182 0.3858 0.5152 0.8026 0.4258 0.4172 0.3887 0.3601 0.4131 0.3881 het 2215.12 182 19 11942615 . A C 2215.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.362;DP=182;DS;Dels=0.00;FS=2.889;HRun=1;HaplotypeScore=4.7792;MQ=58.82;MQ0=0;MQRankSum=-0.354;QD=12.17;ReadPosRankSum=-0.836;VQSLOD=4.5491;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:99,83:182:99:2245,0,2804 19 11942771 11942771 G A exonic ZNF440 synonymous SNV ZNF440:NM_152357:exon4:c.G780A:p.E260E 0.34 0.53 0.33 0.16 0.36 0.23 0.3500 0.5105 0.3208 0.1603 0.3294 0.3826 0.3319 0.2491 0.43 0.51 0.39 0.35 0.31 rs436411 COSM4000510 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3409 0.5096 0.3153 0.3552 0.1601 0.3247 0.3796 0.3572 0.2500 0.3885 0.5026 0.3413 0.3675 0.1650 0.3145 0.3700 0.3347 het 1255.71 91 19 11942771 . G A 1255.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.220;DP=91;Dels=0.00;FS=0.804;HRun=1;HaplotypeScore=8.9856;MQ=59.24;MQ0=0;MQRankSum=1.921;QD=13.80;ReadPosRankSum=-1.080;VQSLOD=4.0370;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,48:91:99:1286,0,1121 19 11943697 11943697 G A exonic ZNF440 nonsynonymous SNV ZNF440:NM_152357:exon4:c.G1706A:p.S569N 0.97 1. 0.94 1. 0.94 0.98 0.9428 0.9874 0.9700 0.9998 0.8973 0.9206 0.9514 0.9745 0.95 0.99 0.93 0.96 0.94 rs400106 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.203 P -1.115 0.009 N 3.65 0.043 T 0.26 0.044 N 0.005 0.000 -1.051 0.142 T 0.000 0.000 T . . . -1.171 0.026 0.007 0.574 0.056 0.000 0.000 N c -1.969 -1.978 0.000 0.063 0.563 0.310 0 -0.702 0.106 -0.862 0.043 -0.853 0.029 0.000 0.063 0.004 0.083 5.688 0.170 . . . 0.9427 0.9887 0.9653 0.9200 0.9996 0.9016 0.9225 0.9365 0.9747 0.9395 0.9874 0.9594 0.9073 0.9994 0.8995 0.9150 0.9221 hom 3126.19 108 19 11943697 . G A 3126.19 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7988;MQ=58.23;MQ0=0;QD=28.95;VQSLOD=7.8544;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3159,256,0 19 11943713 11943713 G A exonic ZNF440 synonymous SNV ZNF440:NM_152357:exon4:c.G1722A:p.R574R 0.068 0.0083 0.1 . 0.2 0.051 0.1463 0.0340 0.0698 0.0002 0.2101 0.2097 0.1311 0.0626 0.16 0.04 0.21 0.065 0.11 rs56167415 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1448 0.0326 0.0682 0.1559 0.0002 0.2119 0.2130 0.1550 0.0634 0.1520 0.0362 0.1026 0.1755 0 0.1971 0.2258 0.1806 het 1238.02 107 19 11943713 . G A 1238.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.447;DP=107;Dels=0.00;FS=6.377;HRun=2;HaplotypeScore=6.6318;MQ=57.85;MQ0=0;MQRankSum=0.261;QD=11.57;ReadPosRankSum=-1.647;VQSLOD=3.0607;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,47:107:99:1268,0,1534 19 11978828 11978828 G T exonic ZNF439 nonsynonymous SNV ZNF439:NM_001348724:exon3:c.G536T:p.R179I,ZNF439:NM_001348725:exon3:c.G536T:p.R179I,ZNF439:NM_152262:exon3:c.G944T:p.R315I,ZNF439:NM_001348718:exon4:c.G968T:p.R323I,ZNF439:NM_001348719:exon4:c.G959T:p.R320I,ZNF439:NM_001348721:exon4:c.G905T:p.R302I,ZNF439:NM_001348722:exon4:c.G803T:p.R268I,ZNF439:NM_001348720:exon5:c.G905T:p.R302I,ZNF439:NM_001348723:exon5:c.G803T:p.R268I 0.014 0.0023 0.017 . 0.045 0.0092 0.0287 0.0076 0.0135 0 0.0579 0.0407 0.0264 0.0074 0.032 0.0095 0.043 0.033 0.041 rs112352083 . . . . . . . . . . . . . 0.454 0.089 T 0.0 0.026 B 0.004 0.093 B . . . 1.000 0.090 N 1.475 0.372 L 1.75 0.262 T -1.58 0.381 N 0.073 0.062 -0.985 0.340 T 0.010 0.035 T . . . 0.096 0.103 3.566 0.662 0.078 0.000 0.001 N c -1.310 -1.444 0.277 0.189 0.563 0.310 0 -1.15 0.092 -0.474 0.066 -1.494 0.010 0.000 0.063 0.003 0.074 2.775 0.050 Zinc finger C2H2-type/integrase DNA-binding domain;Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0292 0.0065 0.0119 0.0180 5.798e-05 0.0604 0.0428 0.0281 0.0078 0.0374 0.0073 0.0227 0.0397 0 0.0558 0.0550 0.0428 het 1465.75 162 19 11978828 . G T 1465.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.194;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9976;MQ=59.54;MQ0=0;MQRankSum=-0.079;QD=9.05;ReadPosRankSum=-0.972;VQSLOD=5.5435;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:99,63:162:99:1496,0,2876 19 11979164 11979164 T C exonic ZNF439 nonsynonymous SNV ZNF439:NM_001348724:exon3:c.T872C:p.L291S,ZNF439:NM_001348725:exon3:c.T872C:p.L291S,ZNF439:NM_152262:exon3:c.T1280C:p.L427S,ZNF439:NM_001348718:exon4:c.T1304C:p.L435S,ZNF439:NM_001348719:exon4:c.T1295C:p.L432S,ZNF439:NM_001348721:exon4:c.T1241C:p.L414S,ZNF439:NM_001348722:exon4:c.T1139C:p.L380S,ZNF439:NM_001348720:exon5:c.T1241C:p.L414S,ZNF439:NM_001348723:exon5:c.T1139C:p.L380S 0.1 0.0091 0.2 0.004 0.26 0.086 0.2057 0.0430 0.2463 0.0059 0.3003 0.2664 0.1876 0.1022 0.2 0.053 0.27 0.14 0.14 rs10500209 . . . . . . . . . . . . . 0.43 0.095 T 0.154 0.265 B 0.124 0.310 B . . . 1 0.090 P -0.01 0.051 N 3.23 0.070 T -1.39 0.344 N 0.051 0.032 -0.925 0.449 T 0.000 0.000 T . . . -1.570 0.015 0.002 0.197 0.007 0.000 0.001 N c -1.689 -1.789 0.009 0.118 0.563 0.310 0 -0.71 0.106 -6.280 0.001 0.399 0.275 0.000 0.063 0.009 0.108 3.235 0.063 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000171295.8|ENSG00000198429.5 Cells_Transformed_fibroblasts|Testis 0.2089 0.0412 0.2322 0.2074 0.0046 0.2948 0.2683 0.2151 0.1037 0.1997 0.0445 0.2428 0.2285 0.0087 0.2853 0.2856 0.2306 het 1584.25 140 19 11979164 . T C 1584.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.350;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6547;MQ=58.66;MQ0=0;MQRankSum=0.578;QD=11.32;ReadPosRankSum=-0.726;VQSLOD=4.4205;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:76,63:140:99:1614,0,2040 19 12088237 12088237 G A exonic ZNF763 nonsynonymous SNV ZNF763:NM_001012753:exon3:c.G191A:p.R64K . . . . . . 4.957e-05 0 0 0 0 4.497e-05 0 0.0002 . . . . . rs774044918 . . . . . . . . . . . . . 0.132 0.265 T 0.902 0.527 P 0.91 0.649 D . . . 1 0.090 N 1.175 0.300 L 3.48 0.052 T -1.78 0.420 N 0.108 0.117 -0.996 0.309 T 0.026 0.110 T 0.001 0.005 T 1.407 0.232 12.83 0.892 0.180 0.002 0.013 N c -0.612 -0.875 0.000 0.012 0.638 0.428 0 0.606 0.167 0.035 0.136 -0.445 0.057 0.003 0.159 0.001 0.043 2.925 0.054 Krueppel-associated box . . 4.876e-05 0 2.979e-05 0 0 0 3.584e-05 0.0004 0.0002 . . . . . . . . het 1016.34 82 19 12088237 . G A 1016.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.659;DP=82;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=58.82;MQ0=0;MQRankSum=0.469;QD=12.39;ReadPosRankSum=0.517;VQSLOD=4.9259;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,44:82:99:1046,0,945 19 12256912 12256912 C T exonic ZNF625 nonsynonymous SNV ZNF625:NM_145233:exon4:c.G319A:p.V107M 0.2 0.3 0.13 0.21 0.13 0.16 0.1501 0.2912 0.1251 0.2524 0.1568 0.1221 0.1366 0.1366 0.17 0.28 0.11 0.17 0.13 rs7258368 COSM4415731;COSM4415730 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.122 0.252 B 0.005 0.104 B . . . 1 0.090 P -0.145 0.044 N 2.41 0.155 T 1.43 0.008 N 0.03 0.015 -0.939 0.428 T 0.000 0.000 T . . . -1.238 0.024 0.006 0.876 0.168 0.001 0.005 N c -1.560 -1.666 0.419 0.203 0.461 0.090 0 -1.71 0.077 -1.701 0.020 -1.467 0.011 0.000 0.063 0.003 0.074 2.852 0.052 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000132010.11 Testis 0.1456 0.2910 0.1227 0.1066 0.2526 0.1585 0.1199 0.1351 0.1367 0.1859 0.2885 0.1289 0.1358 0.2651 0.1523 0.1316 0.1578 het 1385.15 92 19 12256912 . C T 1385.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.829;DP=92;Dels=0.00;FS=5.283;HRun=0;HaplotypeScore=3.5693;MQ=58.98;MQ0=0;MQRankSum=0.277;QD=15.06;ReadPosRankSum=-0.686;VQSLOD=5.2430;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,52:92:99:1415,0,1034 19 12541532 12541532 C A exonic ZNF443 nonsynonymous SNV ZNF443:NM_005815:exon4:c.G1454T:p.C485F 0.65 0.64 0.73 0.45 0.78 0.68 0.7314 0.6437 0.7581 0.4209 0.8028 0.7844 0.7163 0.6875 0.74 0.66 0.79 0.61 0.75 rs10422063 COSM4000516 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N 3.26 0.067 T 6.69 0.000 N 0.054 0.179 -1.007 0.279 T 0.000 0.000 T . . . -1.024 0.031 0.014 0.208 0.008 0.005 0.023 N c -1.980 -1.938 0.020 0.133 0.563 0.310 0 -1.46 0.083 1.985 0.401 -0.990 0.022 0.169 0.237 0.000 0.016 5.288 0.149 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2-like ENSG00000269560.1|ENSG00000180855.11|ENSG00000234848.1|ENSG00000180855.11|ENSG00000180855.11|ENSG00000180855.11|ENSG00000180855.11|ENSG00000180855.11 Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7337 0.6372 0.7537 0.7401 0.4260 0.8061 0.7844 0.7518 0.6903 0.7277 0.6425 0.7644 0.7534 0.4167 0.8193 0.7845 0.7568 hom 3339.84 99 19 12541532 . C A 3339.84 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.00;MQ0=0;QD=33.74;VQSLOD=8.6520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3339,265,0 19 12541547 12541547 T G exonic ZNF443 nonsynonymous SNV ZNF443:NM_005815:exon4:c.A1439C:p.K480T 0.26 0.17 0.42 0.11 0.5 0.19 0.4114 0.2169 0.4165 0.0944 0.5372 0.5141 0.4227 0.2286 0.41 0.22 0.5 0.18 0.56 rs74181783 COSM4998041 2(pancreas) . . . . . . . . . . . 0.034 0.440 D 0.988 0.604 D 0.93 0.647 D . . . 1 0.090 P 0.175 0.091 N 2.16 0.192 T -3.88 0.727 D 0.065 0.095 -0.929 0.443 T 0.000 0.000 T . . . 3.081 0.430 22.5 0.993 0.594 0.061 0.119 N c -0.530 -0.769 0.008 0.116 0.563 0.310 0 1.26 0.204 -1.331 0.028 0.610 0.288 0.000 0.063 0.043 0.159 4.260 0.101 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2-like ENSG00000269560.1|ENSG00000234848.1|ENSG00000180855.11|ENSG00000269755.1|ENSG00000180855.11|ENSG00000180855.11 Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.4152 0.2082 0.4192 0.4343 0.0947 0.5491 0.5132 0.4417 0.2306 0.4063 0.2135 0.4246 0.4404 0.0880 0.5555 0.5137 0.4528 hom 3707.05 111 19 12541547 . T G 3707.05 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=33.40;VQSLOD=8.1627;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3707,289,0 19 12576049 12576049 G A exonic ZNF709 synonymous SNV ZNF709:NM_152601:exon4:c.C687T:p.C229C 0.29 0.23 0.43 0.12 0.5 0.21 0.4224 0.2690 0.4213 0.1031 0.5369 0.5148 0.4292 0.2634 0.42 0.27 0.5 0.21 0.57 rs7259240 COSM5438341 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4244 0.2615 0.4231 0.4339 0.1035 0.5487 0.5139 0.4467 0.2646 0.4227 0.2620 0.4325 0.4470 0.0954 0.5573 0.5169 0.4529 hom 3986.78 139 19 12576049 . G A 3986.78 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;QD=28.68;VQSLOD=7.9008;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:3986,304,0 19 12786449 12786449 G A exonic WDR83 nonsynonymous SNV WDR83:NM_032332:exon9:c.G911A:p.R304Q,WDR83:NM_001099737:exon11:c.G911A:p.R304Q 0.0094 . 0.053 . 0.006 0.0041 0.0158 0.0020 0.1013 0 0.0108 0.0085 0.0147 0.0060 0.0055 0.0007 0.0079 . 0.0082 rs35092999 COSM330364 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.533 0.069 T 0.645 0.386 P 0.058 0.250 B 0.000 0.629 D 0.969 0.387 D 1.935 0.520 L 0.94 0.437 T -0.59 0.176 N 0.359 0.453 -1.075 0.083 T 0.026 0.110 T . . . 2.751 0.392 21.1 0.924 0.212 0.932 0.572 D c 0.232 0.319 1.000 0.747 0.672 0.522 0 5.88 0.945 7.040 0.761 0.998 0.613 1.000 0.715 0.046 0.161 18.992 0.927 . . . 0.0176 0.0014 0.0843 0.0075 0 0.0099 0.0079 0.0127 0.0055 0.0083 0.0015 0.0644 0.0066 0 0.0132 0.0089 0.0071 het 394.59 37 19 12786449 . G A 394.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.234;DP=37;Dels=0.00;FS=16.301;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.198;QD=10.66;ReadPosRankSum=-1.021;VQSLOD=2.8255;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,17:37:99:425,0,635 19 12865821 12865821 C T exonic BEST2 synonymous SNV BEST2:NM_017682:exon4:c.C612T:p.N204N 0.0088 . 0.05 . 0.006 0.0031 0.0159 0.0018 0.1018 0 0.0104 0.0080 0.0179 0.0056 0.0053 0.001 0.0075 . 0.0082 rs17706412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0175 0.0012 0.0888 0.0075 0 0.0114 0.0075 0.0135 0.0051 0.0079 0.0015 0.0634 0.0066 0 0.0135 0.0082 0.0071 het 387.91 38 19 12865821 . C T 387.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.764;DP=38;Dels=0.00;FS=1.290;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=0.754;QD=10.21;ReadPosRankSum=0.843;VQSLOD=6.3547;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,16:38:99:418,0,609 19 12917520 12917520 A G exonic RNASEH2A synonymous SNV RNASEH2A:NM_006397:exon1:c.A33G:p.T11T 0.063 0.16 0.078 0.012 0.025 0.015 0.0666 0.1755 0.2148 0.0173 0.0403 0.0543 0.0661 0.0304 0.064 0.13 0.03 0.065 0.0082 rs11554400 . . Benign|Likely benign not_specified|Aicardi_Goutieres_syndrome RCV000244231.1|RCV000357131.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0393591:ORPHA51:230312006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0464 0.1377 0.1049 0.0425 0.0164 0.0276 0.0300 0.045 0.0270 0.0645 0.1445 0.0895 0.0596 0.0211 0.0289 0.0313 0.0397 het 72.35 11 19 12917520 . A G 72.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DP=11;Dels=0.00;FS=7.123;HRun=2;HaplotypeScore=1.5592;MQ=60.00;MQ0=0;MQRankSum=0.597;QD=6.58;ReadPosRankSum=-0.896;VQSLOD=3.1572;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,4:11:99:102,0,177 19 12920935 12920935 G A exonic RNASEH2A synonymous SNV RNASEH2A:NM_006397:exon5:c.G462A:p.Q154Q 0.063 0.16 0.078 0.012 0.025 0.015 0.0466 0.1422 0.1194 0.0148 0.0245 0.0303 0.0529 0.0260 0.069 0.14 0.033 0.065 0.025 rs7257575 COSM3756345 1(large_intestine) Benign|Likely benign not_specified|Aicardi_Goutieres_syndrome RCV000249194.1|RCV000312771.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0393591:ORPHA51:230312006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0470 0.1407 0.1091 0.0423 0.0173 0.0274 0.0301 0.0441 0.0267 0.0640 0.1426 0.0895 0.0596 0.0210 0.0289 0.0313 0.0397 het 2209.98 187 19 12920935 . G A 2209.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.659;DP=187;DS;Dels=0.00;FS=4.971;HRun=1;HaplotypeScore=3.8371;MQ=59.20;MQ0=0;MQRankSum=-1.044;QD=11.82;ReadPosRankSum=-1.548;VQSLOD=4.2905;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:105,82:187:99:2240,0,3337 19 12921186 12921186 T C exonic RNASEH2A nonsynonymous SNV RNASEH2A:NM_006397:exon6:c.T605C:p.L202S 0.063 0.16 0.078 0.012 0.025 0.015 0.0466 0.1421 0.1194 0.0148 0.0246 0.0303 0.0529 0.0260 0.069 0.14 0.033 0.065 0.033 rs7247284 COSM3756346 1(large_intestine) Benign|Likely benign not_specified|Aicardi_Goutieres_syndrome RCV000245339.1|RCV000325962.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0393591:ORPHA51:230312006 . . . . . . 0.741 0.037 T 0.006 0.126 B 0.005 0.104 B 0.657 0.105 N 1 0.090 P 1.685 0.434 L -2.06 0.859 D -0.42 0.142 N 0.111 0.120 -1.080 0.074 T 0.002 0.006 T . . . -0.519 0.054 0.198 0.246 0.011 0.441 0.270 N c -1.235 -1.156 0.989 0.315 0.732 0.924 0 2.0 0.254 0.940 0.284 -0.723 0.036 0.702 0.284 0.003 0.074 6.414 0.208 Ribonuclease H-like domain|Ribonuclease HII/HIII domain ENSG00000104889.4 Testis 0.0470 0.1407 0.1091 0.0423 0.0173 0.0274 0.0300 0.0441 0.0267 0.0642 0.1435 0.0887 0.0596 0.0217 0.0286 0.0313 0.0397 het 906.99 86 19 12921186 . T C 906.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.776;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8382;MQ=58.03;MQ0=0;MQRankSum=1.140;QD=10.55;ReadPosRankSum=0.938;VQSLOD=4.7319;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,40:86:99:937,0,1195 19 12924157 12924157 C T exonic RNASEH2A synonymous SNV RNASEH2A:NM_006397:exon8:c.C777T:p.S259S 0.022 0.02 0.062 0.012 0.014 0.014 0.0268 0.0166 0.1039 0.0148 0.0242 0.0180 0.0387 0.0216 0.018 0.017 0.018 0.022 0.025 rs76634951 . . Likely benign|Benign Aicardi_Goutieres_syndrome|not_specified RCV000380537.1|RCV000454882.1 MedGen:Orphanet:SNOMED_CT|MedGen C0393591:ORPHA51:230312006|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0294 0.0169 0.0924 0.0110 0.0173 0.0266 0.0183 0.0239 0.0226 0.0224 0.0154 0.0740 0.0265 0.0210 0.0289 0.0219 0.0256 het 1258.50 105 19 12924157 . C T 1258.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.198;DP=105;Dels=0.00;FS=0.745;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.678;QD=11.99;ReadPosRankSum=0.504;VQSLOD=6.0219;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,49:105:99:1288,0,1478 19 12936617 12936617 C G exonic RTBDN nonsynonymous SNV RTBDN:NM_001080997:exon6:c.G593C:p.G198A,RTBDN:NM_001270441:exon6:c.G623C:p.G208A,RTBDN:NM_001270442:exon6:c.G611C:p.G204A,RTBDN:NM_001270443:exon6:c.G593C:p.G198A,RTBDN:NM_001270444:exon6:c.G593C:p.G198A,RTBDN:NM_001270445:exon6:c.G575C:p.G192A,RTBDN:NM_031429:exon7:c.G689C:p.G230A 0.064 0.14 0.088 0.024 0.04 0.016 0.0575 0.1213 0.1228 0.0268 0.0809 0.0464 0.0636 0.0259 0.06 0.1 0.039 0.076 0.025 rs13628 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.517 0.118 N 1 0.090 P -0.895 0.014 N 0.84 0.494 T 0.97 0.015 N 0.03 0.020 -1.016 0.249 T 0.000 0.001 T . . . 0.628 0.154 8.345 0.687 0.085 0.006 0.026 N c -1.540 -1.487 1.000 0.747 0.526 0.212 0 1.18 0.200 0.001 0.128 -0.151 0.108 0.000 0.063 0.005 0.090 5.274 0.148 . . . 0.0545 0.1140 0.1072 0.0197 0.0274 0.0668 0.0439 0.0480 0.0250 0.0684 0.1123 0.0971 0.0331 0.0272 0.0680 0.0474 0.0541 het 379.12 25 19 12936617 . C G 379.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.028;DP=25;Dels=0.00;FS=1.973;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.083;QD=15.16;ReadPosRankSum=-0.194;VQSLOD=5.7368;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,15:25:99:409,0,239 19 12958697 12958697 T C exonic MAST1 synonymous SNV MAST1:NM_014975:exon7:c.T600C:p.F200F 0.5 0.67 0.35 0.62 0.29 0.49 0.3776 0.6357 0.3853 0.6363 0.3907 0.2804 0.3243 0.4502 0.39 0.62 0.27 0.58 0.15 rs2290688 COSM1480600;COSM438635 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3561 0.6275 0.3684 0.2217 0.6316 0.3470 0.2657 0.3111 0.4396 0.4082 0.6215 0.3461 0.2483 0.6117 0.3498 0.2868 0.3450 hom 1467.34 43 19 12958697 . T C 1467.34 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=58.54;MQ0=0;QD=34.12;VQSLOD=9.1882;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1500,123,0 19 12963143 12963143 T C exonic MAST1 synonymous SNV MAST1:NM_014975:exon10:c.T1011C:p.D337D 0.45 0.47 0.33 0.62 0.29 0.48 0.3434 0.4426 0.3608 0.6323 0.3552 0.2630 0.3035 0.4398 0.32 0.44 0.27 0.5 0.16 rs1078264 COSM4131225;COSM4131224 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3439 0.4421 0.3610 0.2221 0.6335 0.3487 0.2663 0.3038 0.4386 0.3569 0.4403 0.3294 0.2483 0.6149 0.3505 0.2871 0.3384 hom 3367.31 109 19 12963143 . T C 3367.31 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5661;MQ=59.58;MQ0=0;QD=30.89;VQSLOD=8.7247;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3367,277,0 19 12985576 12985576 A G exonic MAST1 synonymous SNV MAST1:NM_014975:exon26:c.A4605G:p.S1535S 0.44 0.43 0.34 0.62 0.29 0.48 0.3539 0.4329 0.3655 0.6256 0.3729 0.2768 0.3113 0.4534 0.32 0.41 0.27 0.38 0.12 rs11085822 COSM1480603;COSM438650 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3419 0.4150 0.3580 0.2294 0.6269 0.3444 0.2675 0.3029 0.4333 0.3521 0.4166 0.3305 0.2633 0.6102 0.3498 0.2913 0.3344 hom 926.80 29 19 12985576 . A G 926.80 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.04;MQ0=0;QD=31.96;VQSLOD=8.4929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:78.24:960,78,0 19 12989560 12989560 G A exonic DNASE2 synonymous SNV DNASE2:NM_001375:exon4:c.C435T:p.S145S 0.37 0.25 0.29 0.62 0.24 0.48 0.3048 0.2580 0.3338 0.6251 0.3512 0.2306 0.2784 0.4285 0.24 0.26 0.23 0.39 0.16 rs2293682 COSM1179780 1(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3076 0.2531 0.3312 0.2027 0.6268 0.3383 0.2318 0.2669 0.424 0.2865 0.2628 0.2959 0.2450 0.6067 0.3408 0.2529 0.2992 het 536.67 52 19 12989560 . G A 536.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.565;DP=52;Dels=0.00;FS=3.978;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=-0.194;QD=10.32;ReadPosRankSum=-0.046;VQSLOD=6.3274;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,22:52:99:567,0,803 19 13008607 13008607 G T exonic GCDH synonymous SNV GCDH:NM_000159:exon11:c.G1173T:p.G391G,GCDH:NM_013976:exon11:c.G1173T:p.G391G 0.25 0.17 0.43 0.14 0.33 0.26 0.3245 0.1972 0.4502 0.1419 0.2926 0.3632 0.3238 0.2680 0.31 0.21 0.36 0.17 0.37 rs1060218 COSM3756351;COSM3756352;COSM3756353 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Glutaric_acidemia RCV000078250.6|RCV000269249.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0003530:C4025603 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3308 0.1987 0.4479 0.2868 0.1385 0.3012 0.3703 0.3380 0.2670 0.2968 0.2007 0.4375 0.2433 0.1396 0.3020 0.3596 0.3340 het 2123.68 145 19 13008607 . G T 2123.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.186;DP=145;Dels=0.00;FS=14.214;HRun=0;HaplotypeScore=0.8941;MQ=59.10;MQ0=0;MQRankSum=-1.257;QD=14.65;ReadPosRankSum=-0.589;VQSLOD=3.7868;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,82:145:99:2154,0,1711 19 13010520 13010520 A G exonic GCDH nonsynonymous SNV GCDH:NM_013976:exon12:c.A1250G:p.Q417R 0.72 0.86 0.7 0.78 0.52 0.7 0.6130 0.8249 0.7161 0.7855 0.4553 0.5435 0.5511 0.6710 0.64 0.82 0.55 0.74 . rs8012 . . Likely pathogenic|Benign Glutaric_aciduria\x2c_type_1|Glutaric_acidemia RCV000190518.1|RCV000281284.1 MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT|Human_Phenotype_Ontology:MedGen C0268595:231670:ORPHA25:360416003:76175005|HP:0003530:C4025603 Blood metabolite levels . -0.04 24816252 rs8012 6E-45 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6105 0.8285 0.7122 0.4944 0.7806 0.4612 0.5496 0.5662 0.6698 0.6311 0.8206 0.7022 0.4371 0.7646 0.4599 0.5498 0.5757 het 961.32 79 19 13010520 . A G 961.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.134;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.0321;MQ=58.46;MQ0=0;MQRankSum=0.625;QD=12.17;ReadPosRankSum=0.465;VQSLOD=5.4542;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,39:79:99:991,0,1033 19 13409696 13409696 C G exonic CACNA1A nonsynonymous SNV CACNA1A:NM_001127221:exon19:c.G2754C:p.E918D,CACNA1A:NM_001127222:exon19:c.G2751C:p.E917D 0.11 0.06 0.13 0.12 0.15 0.099 0.1435 0.0808 0.1559 0.1078 0.1443 0.1574 0.1667 0.1265 0.098 0.059 0.12 0.011 . rs16022 COSM329213;COSM329212;COSM329211;COSM3756365 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) not provided|other not_provided|not_specified RCV000059296.1|RCV000116520.7 MedGen|MedGen CN221809|CN169374 . . . . . . 0.434 0.094 T 0.0 0.249 B 0.001 0.247 B 0.000 0.005 N 1.000 0.090 P 0.895 0.225 L -3.96 0.963 D -0.66 0.191 N 0.039 0.019 -0.491 0.690 T 0.017 0.069 T . . . 2.461 0.357 19.21 0.584 0.059 0.032 0.081 N c -0.897 -0.822 0.003 0.101 0.701 0.575 0 1.49 0.219 0.002 0.129 -0.045 0.123 0.000 0.063 0.030 0.147 5.84 0.178 . . . 0.1264 0.0633 0.1365 0.1507 0.0975 0.1118 0.1398 0.1380 0.1106 0.1180 0.0694 0.1382 0.1391 0.1110 0.1266 0.1428 0.1276 het 222.77 16 19 13409696 . C G 222.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.699;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-2.379;QD=13.92;ReadPosRankSum=1.020;VQSLOD=4.3577;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,11:16:99:253,0,116 19 13445208 13445208 C T exonic CACNA1A synonymous SNV CACNA1A:NM_001127221:exon8:c.G1182A:p.E394E,CACNA1A:NM_001127222:exon8:c.G1182A:p.E394E 0.64 0.48 0.78 0.63 0.68 0.74 0.6857 0.5256 0.8140 0.6417 0.6839 0.6833 0.6756 0.7246 0.64 0.55 0.69 0.67 . rs2248069 . . other not_specified RCV000079475.9 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6884 0.5211 0.8008 0.6513 0.6386 0.6826 0.6807 0.6796 0.7221 0.6399 0.5194 0.7596 0.6391 0.6225 0.6723 0.6930 0.7108 hom 2355.16 86 19 13445208 . C T 2355.16 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9442;MQ=58.73;MQ0=0;QD=27.39;VQSLOD=7.6488;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2388,181,0 19 13988416 13988416 A G exonic NANOS3 synonymous SNV NANOS3:NM_001098622:exon1:c.A354G:p.T118T 0.41 0.76 0.25 0.32 0.21 0.33 0.2754 0.7094 0.2624 0.2985 0.1744 0.2171 0.2436 0.2875 0.38 0.69 0.22 0.41 0.25 rs2016163 COSM438697 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2624 0.7129 0.2518 0.1586 0.3041 0.1776 0.2176 0.2434 0.2834 0.3541 0.7081 0.2685 0.1755 0.3247 0.1689 0.2094 0.2556 het 640.08 52 19 13988416 . A G 640.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.234;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6261;MQ=59.28;MQ0=0;MQRankSum=-1.310;QD=12.31;ReadPosRankSum=0.405;VQSLOD=5.4425;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,26:52:99:670,0,639 19 14000170 14000170 T C exonic C19orf57 nonsynonymous SNV C19orf57:NM_001345846:exon5:c.A1145G:p.Q382R,C19orf57:NM_001345847:exon5:c.A1145G:p.Q382R,C19orf57:NM_001345843:exon6:c.A1916G:p.Q639R,C19orf57:NM_001345844:exon6:c.A1916G:p.Q639R,C19orf57:NM_024323:exon6:c.A1499G:p.Q500R 0.39 0.73 0.23 0.31 0.21 0.31 0.2655 0.6621 0.2489 0.2853 0.1703 0.2111 0.2406 0.2760 0.36 0.66 0.21 0.41 0.26 rs3803892 COSM4000527 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.134 0.263 T 0.578 0.369 P 0.266 0.380 B 0.659 0.060 N 1 0.090 P 1.65 0.424 L 0.98 0.421 T -2.51 0.545 D 0.018 0.003 -0.960 0.392 T 0.000 0.000 T . . . -1.190 0.025 0.007 0.744 0.103 0.011 0.040 N c -1.337 -1.474 0.226 0.184 0.615 0.372 0 -5.51 0.024 -1.684 0.020 -0.231 0.094 0.000 0.063 0.000 0.016 1.950 0.031 . ENSG00000132016.7|ENSG00000132016.7|ENSG00000141854.3|ENSG00000132000.7|ENSG00000132024.13|ENSG00000132000.7|ENSG00000141854.3|ENSG00000141854.3|ENSG00000132000.7|ENSG00000132016.7|ENSG00000141854.3|ENSG00000132000.7|ENSG00000132024.13|ENSG00000132000.7 Brain_Cerebellum|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Testis|Thyroid 0.2541 0.6708 0.2433 0.1454 0.2898 0.1805 0.2151 0.2357 0.2720 0.3388 0.6620 0.2625 0.1589 0.3109 0.1714 0.2075 0.2398 het 988.09 99 19 14000170 . T C 988.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.233;DP=99;Dels=0.00;FS=1.785;HRun=3;HaplotypeScore=1.3670;MQ=58.92;MQ0=0;MQRankSum=-0.619;QD=9.98;ReadPosRankSum=-0.713;VQSLOD=6.2688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,42:99:99:1018,0,1571 19 14000400 14000400 A G exonic C19orf57 synonymous SNV C19orf57:NM_001345846:exon5:c.T915C:p.P305P,C19orf57:NM_001345847:exon5:c.T915C:p.P305P,C19orf57:NM_001345843:exon6:c.T1686C:p.P562P,C19orf57:NM_001345844:exon6:c.T1686C:p.P562P,C19orf57:NM_024323:exon6:c.T1269C:p.P423P 0.39 0.73 0.24 0.31 0.21 0.31 0.2672 0.6629 0.2492 0.2852 0.1703 0.2128 0.2449 0.2808 0.36 0.65 0.21 0.41 0.27 rs3803891 COSM4000528 3(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2542 0.6707 0.2434 0.1454 0.2900 0.1803 0.2150 0.2363 0.2718 0.3387 0.6611 0.2637 0.1589 0.3103 0.1714 0.2074 0.2418 het 1202.64 107 19 14000400 . A G 1202.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.936;DP=107;Dels=0.00;FS=1.704;HRun=2;HaplotypeScore=2.7232;MQ=58.70;MQ0=0;MQRankSum=0.423;QD=11.24;ReadPosRankSum=0.022;VQSLOD=6.1391;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,48:107:99:1233,0,1572 19 14000870 14000870 C T exonic C19orf57 nonsynonymous SNV C19orf57:NM_001345846:exon5:c.G445A:p.G149R,C19orf57:NM_001345847:exon5:c.G445A:p.G149R,C19orf57:NM_001345843:exon6:c.G1216A:p.G406R,C19orf57:NM_001345844:exon6:c.G1216A:p.G406R,C19orf57:NM_024323:exon6:c.G799A:p.G267R 0.38 0.7 0.23 0.31 0.21 0.31 0.2626 0.6225 0.2482 0.2851 0.1730 0.2117 0.2417 0.2757 0.35 0.62 0.21 0.38 0.24 rs2305775 COSM3756368 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.353 0.122 T 0.22 0.516 B 0.028 0.540 B 0.394 0.045 N 1 0.090 P 0.755 0.192 N 1.51 0.309 T -0.5 0.158 N 0.059 0.043 -0.936 0.432 T 0.000 0.000 T . . . 2.372 0.346 18.64 0.996 0.745 0.078 0.137 N c -0.843 -0.950 0.008 0.116 0.615 0.352 0 1.72 0.234 -0.032 0.121 -0.012 0.132 0.000 0.063 0.003 0.074 7.373 0.258 . ENSG00000132016.7|ENSG00000132016.7|ENSG00000141854.3|ENSG00000132000.7|ENSG00000132024.13|ENSG00000132000.7|ENSG00000141854.3|ENSG00000141854.3|ENSG00000132000.7|ENSG00000132016.7|ENSG00000141854.3|ENSG00000132000.7|ENSG00000132024.13|ENSG00000132016.7|ENSG00000132000.7 Brain_Cerebellum|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Testis|Thyroid|Thyroid 0.2513 0.6303 0.2417 0.1453 0.2898 0.1802 0.2150 0.2340 0.2717 0.3280 0.6230 0.2590 0.1589 0.3125 0.1712 0.2074 0.2428 het 1115.66 70 19 14000870 . C T 1115.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.407;DP=70;Dels=0.00;FS=7.358;HRun=0;HaplotypeScore=1.6642;MQ=59.67;MQ0=0;MQRankSum=0.071;QD=15.94;ReadPosRankSum=-0.213;VQSLOD=4.6326;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,39:70:99:1146,0,916 19 14015711 14015711 C A exonic C19orf57 nonsynonymous SNV C19orf57:NM_001345843:exon2:c.G412T:p.D138Y,C19orf57:NM_001345844:exon2:c.G412T:p.D138Y,C19orf57:NM_001345848:exon2:c.G412T:p.D138Y 0.38 0.68 0.24 0.31 0.21 0.31 0.2617 0.6242 0.2481 0.2848 0.1702 0.2106 0.2390 0.2752 0.35 0.62 0.21 0.37 0.27 rs6511898 COSN15316850 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2511 0.6333 0.2412 0.1451 0.2893 0.1804 0.2146 0.2347 0.2708 0.3277 0.6223 0.2560 0.1589 0.3123 0.1714 0.2077 0.2418 het 1174.89 83 19 14015711 . C A 1174.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.062;DP=83;Dels=0.00;FS=0.907;HRun=0;HaplotypeScore=3.3559;MQ=59.04;MQ0=0;MQRankSum=0.254;QD=14.16;ReadPosRankSum=1.213;VQSLOD=6.2466;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,48:83:99:1205,0,926 19 14030689 14030689 T C exonic CC2D1A synonymous SNV CC2D1A:NM_017721:exon12:c.T1281C:p.G427G 0.42 0.82 0.33 0.3 0.21 0.3 0.2784 0.7469 0.3732 0.2958 0.1558 0.2057 0.2540 0.2697 0.37 0.72 0.21 0.47 0.19 rs10410239 COSM4000529 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Likely benign not_specified RCV000116587.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2736 0.7542 0.3661 0.1824 0.3001 0.1683 0.2076 0.2618 0.2672 0.3624 0.7471 0.3705 0.1622 0.3304 0.1608 0.1994 0.2510 het 881.52 73 19 14030689 . T C 881.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.549;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7761;MQ=59.43;MQ0=0;MQRankSum=1.375;QD=12.08;ReadPosRankSum=0.349;VQSLOD=5.6742;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,37:73:99:912,0,948 19 14038791 14038791 C T exonic CC2D1A nonsynonymous SNV CC2D1A:NM_017721:exon23:c.C2402T:p.T801M 0.12 0.017 0.18 0.061 0.26 0.15 0.2104 0.0490 0.1479 0.0736 0.2536 0.2678 0.2074 0.1720 0.19 0.044 0.27 0.11 0.18 rs2305777 COSM4000530 1(haematopoietic_and_lymphoid_tissue);5(soft_tissue);1(pancreas) Likely benign not_specified RCV000116591.2 MedGen CN169374 . . . . . . 0.155 0.241 T 0.627 0.899 P 0.09 0.790 B 0.001 0.403 N 0.015 0.402 P 2.045 0.562 M 1.98 0.219 T -1.99 0.459 N 0.205 0.251 -1.014 0.257 T 0.000 0.000 T . . . 5.592 0.761 26.5 0.999 0.944 0.933 0.575 D c 0.359 0.390 0.962 0.286 0.732 0.924 0 5.22 0.722 4.160 0.577 0.892 0.403 0.999 0.424 0.445 0.262 13.312 0.597 . . . 0.2109 0.0437 0.1564 0.2608 0.0686 0.2516 0.2696 0.2230 0.1727 0.1942 0.0472 0.1791 0.2649 0.0678 0.2451 0.2789 0.2335 het 1811.85 139 19 14038791 . C T 1811.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.086;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8932;MQ=59.70;MQ0=0;MQRankSum=-1.390;QD=13.03;ReadPosRankSum=0.015;VQSLOD=5.8880;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,68:139:99:1842,0,1748 19 14083761 14083761 T C exonic RFX1 nonsynonymous SNV RFX1:NM_002918:exon9:c.A1108G:p.T370A 0.53 0.75 0.5 0.45 0.47 0.41 0.5001 0.7284 0.5028 0.4458 0.4762 0.4867 0.5090 0.4623 0.55 0.72 0.46 0.098 0.4 rs2305780 COSM438704 2(urinary_tract);2(thyroid);8(large_intestine) . . . . . . . . . . . 0.111 0.290 T 0.017 0.163 B 0.038 0.220 B 0.114 0.193 N 1 0.090 P 0.6 0.156 N 1.05 0.400 T -1.01 0.266 N 0.016 0.003 -0.950 0.409 T 0.000 0.000 T . . . -0.386 0.062 0.419 0.834 0.142 0.180 0.199 N c -1.182 -1.159 0.957 0.282 0.646 0.450 0 -2.85 0.054 0.135 0.157 -2.757 0.002 0.858 0.303 0.076 0.179 0.627 0.007 RFX1 transcription activation region . . 0.4906 0.7276 0.5106 0.4757 0.4490 0.4542 0.4756 0.4745 0.4593 0.5516 0.7207 0.5288 0.4404 0.4857 0.4538 0.4907 0.4898 het 280.05 26 19 14083761 . T C 280.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.972;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.82;MQ0=0;MQRankSum=1.038;QD=10.77;ReadPosRankSum=-0.571;VQSLOD=6.2831;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,11:26:99:310,0,372 19 14554394 14554394 G A exonic PKN1 synonymous SNV PKN1:NM_002741:exon3:c.G435A:p.A145A,PKN1:NM_213560:exon3:c.G453A:p.A151A 0.0016 0.0008 0.0014 . 0.006 . 0.0061 0.0009 0.0007 0 0.0102 0.0096 0.0036 0.0001 0.0062 0.0014 0.0086 . . rs55814382 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0053 0.0011 0.0012 0.0004 0 0.0090 0.0091 0.0055 3.258e-05 0.0053 0.0020 0.0012 0 0 0.0095 0.0072 0.0072 het 540.65 45 19 14554394 . G A 540.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.557;DP=45;Dels=0.00;FS=4.452;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=1.615;QD=12.01;ReadPosRankSum=0.035;VQSLOD=5.2087;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,20:45:99:571,0,634 19 14561722 14561722 A G exonic PKN1 synonymous SNV PKN1:NM_002741:exon6:c.A771G:p.L257L,PKN1:NM_213560:exon6:c.A789G:p.L263L 1. 1. 0.99 1. 0.99 1. 0.9940 0.9982 0.9959 1 0.9961 0.9909 0.9960 0.9996 0.99 1. 0.99 0.99 0.77 rs8107892 COSM4131280;COSM4131281 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9936 0.9980 0.9941 0.9730 1 0.9949 0.9915 0.9910 0.9996 0.9934 0.9987 0.9869 0.9801 1 0.9931 0.9903 0.9949 hom 460.24 15 19 14561722 . A G 460.24 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.16;MQ0=0;QD=30.68;VQSLOD=8.7015;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:493,39,0 19 14574959 14574959 G A exonic PKN1 synonymous SNV PKN1:NM_002741:exon12:c.G1725A:p.S575S,PKN1:NM_213560:exon12:c.G1743A:p.S581S 0.06 0.058 0.12 0.032 0.064 0.045 0.0621 0.0642 0.1203 0.0299 0.0632 0.0609 0.0495 0.0421 0.057 0.06 0.055 0.033 0.049 rs2230538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0632 0.0662 0.1173 0.0568 0.0277 0.0595 0.0592 0.0612 0.0420 0.0591 0.0732 0.1017 0.0464 0.0265 0.0616 0.0522 0.0519 het 1461.16 117 19 14574959 . G A 1461.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.229;DP=117;Dels=0.00;FS=1.733;HRun=1;HaplotypeScore=0.9973;MQ=59.48;MQ0=0;MQRankSum=-0.146;QD=12.49;ReadPosRankSum=0.251;VQSLOD=6.9125;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,57:117:99:1491,0,1601 19 14580328 14580328 A G exonic PKN1 nonsynonymous SNV PKN1:NM_002741:exon16:c.A2152G:p.I718V,PKN1:NM_213560:exon16:c.A2170G:p.I724V 0.19 0.45 0.17 0.11 0.077 0.056 0.1094 0.4096 0.1485 0.1139 0.0962 0.0736 0.0828 0.0514 0.17 0.37 0.066 0.22 0.074 rs2230539 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.025 0.262 N 0.000 0.810 P 0.25 0.098 N 1.89 0.237 T 0.56 0.027 N 0.023 0.029 -0.946 0.416 T 0.000 0.000 T . . . -1.814 0.011 0.002 0.628 0.069 0.018 0.055 N c -1.451 -1.460 0.033 0.141 0.672 0.522 0 -2.14 0.067 -0.868 0.043 0.038 0.153 0.000 0.063 0.200 0.217 8.564 0.325 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain ENSG00000123143.8 Whole_Blood 0.1059 0.4129 0.1501 0.0820 0.1061 0.0933 0.0709 0.0940 0.0505 0.1701 0.4096 0.1531 0.0662 0.1098 0.0911 0.0647 0.0883 het 1540.57 115 19 14580328 . A G 1540.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.445;DP=115;Dels=0.00;FS=2.931;HRun=0;HaplotypeScore=2.6722;MQ=59.23;MQ0=0;MQRankSum=0.003;QD=13.40;ReadPosRankSum=-0.020;VQSLOD=6.5487;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,58:115:99:1571,0,1550 19 14582539 14582539 C T exonic PKN1 synonymous SNV PKN1:NM_002741:exon22:c.C2772T:p.L924L,PKN1:NM_213560:exon22:c.C2790T:p.L930L 0.11 0.051 0.16 0.0089 0.25 0.14 0.2806 0.1239 0.1858 0.0066 0.3209 0.3619 0.2982 0.2042 0.2 0.078 0.26 0.087 0.041 rs8598 COSM3756373;COSM3756374 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.001 0.471 P . . . 1.33 0.350 T . . . . . . . . . . . . . . 0.517 0.144 7.562 0.915 0.202 0.221 0.214 N n 1.448 4.859 0.971 0.292 0.707 0.730 0 1.54 0.222 -0.241 0.089 0.774 0.313 0.062 0.216 0.359 0.247 11.513 0.496 . . . 0.2071 0.0799 0.1299 0.2991 0.0046 0.2110 0.2870 0.2258 0.1694 0.1909 0.0798 0.1360 0.3775 0.0068 0.2028 0.2694 0.2326 het 112.17 12 19 14582539 . C T 112.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.259;QD=9.35;ReadPosRankSum=-2.047;VQSLOD=9.8824;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:142,0,184 19 14629150 14629150 G A exonic DNAJB1 synonymous SNV DNAJB1:NM_006145:exon1:c.C12T:p.D4D 0.34 0.45 0.33 0.11 0.32 0.47 0.3446 0.4215 0.3965 0.0910 0.4116 0.3247 0.3846 0.4540 0.34 0.4 0.31 0.24 0.24 rs3962158 COSM3756375 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3427 0.4211 0.4011 0.3502 0.0901 0.3985 0.3158 0.3520 0.4398 0.3379 0.4062 0.3876 0.36 0.0798 0.3922 0.3117 0.3162 hom 974.85 31 19 14629150 . G A 974.85 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;QD=31.45;VQSLOD=8.9294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:84.23:1008,84,0 19 14682804 14682804 G C exonic NDUFB7 synonymous SNV NDUFB7:NM_004146:exon1:c.C9G:p.A3A 0.54 0.84 0.45 0.28 0.5 0.52 0.5642 0.7989 0.4897 0.3726 0.5672 0.5598 0.5554 0.5655 0.6 0.77 0.51 0.61 0.31 rs9543 COSM3756376 4(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5055 0.7964 0.4261 0.5567 0.3125 0.5010 0.5145 0.4967 0.5260 0.5806 0.7825 0.4368 0.5638 0.3114 0.5086 0.5209 0.5226 hom 387.51 14 19 14682804 . G C 387.51 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.68;VQSLOD=12.2081;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:36.10:421,36,0 19 14758168 14758168 G A exonic ADGRE3 nonsynonymous SNV ADGRE3:NM_001289159:exon5:c.C329T:p.A110V,ADGRE3:NM_001289158:exon7:c.C551T:p.A184V,ADGRE3:NM_032571:exon8:c.C707T:p.A236V 0.3 0.37 0.21 0.27 0.31 0.28 0.2858 0.3697 0.1521 0.2598 0.2440 0.3000 0.2909 0.2996 0.33 0.37 0.3 0.38 0.34 rs34226397 . . . . . . . . . . . . . 0.369 0.116 T 0.092 0.237 B 0.017 0.226 B . . . 1 0.090 P 2.025 0.556 M 0.96 0.429 T -0.45 0.247 N 0.165 0.290 -0.955 0.402 T 0.000 0.000 T . . . 0.083 0.102 3.426 0.114 0.002 0.091 0.147 N c -0.599 -0.616 0.004 0.105 0.487 0.133 0 3.94 0.446 2.588 0.456 0.799 0.323 0.111 0.228 0.412 0.256 11.575 0.499 . ENSG00000160961.7 Artery_Aorta 0.2835 0.3729 0.1723 0.4032 0.2583 0.2489 0.3000 0.2964 0.2980 0.3086 0.3731 0.1870 0.3826 0.2587 0.2437 0.2985 0.2823 hom 2404.16 75 19 14758168 . G A 2404.16 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.07;MQ0=0;QD=32.06;VQSLOD=9.3505;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2437,211,0 19 14769339 14769339 C G exonic ADGRE3 nonsynonymous SNV ADGRE3:NM_001289158:exon4:c.G223C:p.E75Q,ADGRE3:NM_032571:exon5:c.G379C:p.E127Q 0.86 0.97 0.75 0.88 0.72 0.89 0.7747 0.9375 0.7391 0.8653 0.7368 0.7259 0.7555 0.8626 0.79 0.93 0.72 0.55 0.7 rs4606855 . . . . . . . . . . . . . 0.592 0.059 T 0.001 0.126 B 0.001 0.104 B . . . 1 0.090 P -0.41 0.029 N 2.84 0.561 T 0.32 0.040 N 0.07 0.058 -1.054 0.133 T 0.000 0.000 T . . . -1.809 0.011 0.002 0.063 0.000 0.002 0.014 N c -1.929 -2.023 0.703 0.227 0.487 0.133 0 -5.85 0.021 -0.760 0.048 -2.158 0.004 0.000 0.063 0.000 0.016 7.910 0.288 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain ENSG00000160961.7|ENSG00000160961.7 Testis|Thyroid 0.7632 0.9380 0.7290 0.7208 0.8587 0.7450 0.7216 0.7419 0.8606 0.7993 0.9331 0.755 0.7252 0.8522 0.7553 0.7300 0.7884 hom 1688.56 56 19 14769339 . C G 1688.56 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.96;MQ0=0;QD=30.15;VQSLOD=7.8614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1722,129,0 19 14817548 14817548 T A exonic ZNF333 synonymous SNV ZNF333:NM_001300912:exon7:c.T474A:p.T158T,ZNF333:NM_032433:exon7:c.T474A:p.T158T 0.83 0.97 0.7 0.89 0.62 0.88 0.6950 0.9206 0.6280 0.8533 0.6579 0.6168 0.6795 0.8485 0.71 0.91 0.6 0.81 0.62 rs6511961 COSM4131290 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . 2.18 0.189 T . . . . . . . . . . . . . . 0.019 0.095 2.775 0.322 0.019 0.004 0.018 N n -0.415 -0.231 0.010 0.120 0.615 0.372 0 -2.79 0.055 -0.710 0.051 -2.930 0.002 0.000 0.063 0.000 0.016 3.891 0.086 . ENSG00000160961.7|ENSG00000160961.7|ENSG00000160961.7 Testis|Thyroid|Whole_Blood 0.6869 0.9245 0.6342 0.6427 0.8593 0.6563 0.6099 0.6720 0.8481 0.7166 0.9159 0.6671 0.6589 0.8544 0.6597 0.6049 0.6867 hom 3367.91 111 19 14817548 . T A 3367.91 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=60.00;MQ0=0;QD=30.34;VQSLOD=7.8489;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3367,271,0 19 14862430 14862430 C G exonic ADGRE2 nonsynonymous SNV ADGRE2:NM_001271052:exon14:c.G1668C:p.L556F,ADGRE2:NM_013447:exon16:c.G1842C:p.L614F 0.82 0.93 0.66 0.83 0.72 0.86 0.7371 0.9046 0.5600 0.7955 0.7727 0.7075 0.7290 0.8310 0.77 0.9 0.7 0.83 0.74 rs2524383 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.997 0.810 P -2.79 0.000 N 1.91 0.233 T 5.54 0.000 N 0.195 0.632 -0.992 0.322 T 0.000 0.000 T . . . 0.530 0.145 7.659 0.125 0.002 0.022 0.064 N c -1.119 -0.812 0.009 0.119 0.651 0.465 0 3.57 0.399 2.146 0.416 -0.003 0.134 0.993 0.376 0.932 0.405 7.749 0.279 GPCR\x2c family 2-like;GPS motif ENSG00000127507.13|ENSG00000160961.7|ENSG00000160961.7|ENSG00000160961.7 Adipose_Subcutaneous|Testis|Thyroid|Whole_Blood 0.7277 0.9064 0.5706 0.6484 0.8019 0.7750 0.7091 0.7215 0.8280 0.7715 0.8990 0.6002 0.6490 0.7898 0.7748 0.7078 0.7536 hom 4589.66 147 19 14862430 . C G 4589.66 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9810;MQ=59.43;MQ0=0;QD=31.22;VQSLOD=8.8963;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4589,355,0 19 14877799 14877799 G C exonic ADGRE2 nonsynonymous SNV ADGRE2:NM_001271052:exon5:c.C478G:p.L160V,ADGRE2:NM_013447:exon6:c.C478G:p.L160V . . . . . . 0.2219 0.3079 0.3022 0.2056 0.1879 0.2457 0.2148 0.0688 0.32 0.4 0.28 0.58 0.21 rs12976472 COSM3742780 1(kidney);1(liver);1(oesophagus);1(thyroid);2(large_intestine) not provided not_provided RCV000190293.1 MedGen CN221809 . . . . . . 0.331 0.131 T 0.789 0.426 P 0.344 0.408 B . . . 1 0.090 P 1.19 0.302 L -0.86 0.782 T -0.62 0.212 N 0.053 0.121 -0.998 0.304 T 0.000 0.000 T . . . -1.117 0.028 0.009 0.293 0.015 0.031 0.079 N c -1.159 -1.236 0.999 0.375 0.554 0.283 0 -1.28 0.088 0.814 0.267 0.670 0.294 0.001 0.137 0.007 0.100 4.856 0.128 EGF-like calcium-binding domain|EGF-like domain|Growth factor receptor cysteine-rich domain ENSG00000160961.7|ENSG00000127507.13 Whole_Blood|Whole_Blood 0.1384 0.3161 0.1652 0.0903 0.1475 0.0840 0.1607 0.1209 0.0435 0.4641 0.5761 0.5339 0.55 0.3783 0.4266 0.4219 0.4070 hom 560.86 25 19 14877799 . G C 560.86 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46.34;MQ0=5;QD=22.43;VQSLOD=4.9841;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:51.12:594,51,0 19 14910210 14910210 C G exonic OR7C1 nonsynonymous SNV OR7C1:NM_198944:exon1:c.G739C:p.V247L 0.17 0.23 0.21 0.049 0.21 0.15 0.1798 0.2393 0.2348 0.0274 0.1677 0.1853 0.1443 0.1681 0.22 0.24 0.2 0.2 0.15 rs73004304 . . . . . . . . . . . . . 0.001 0.784 D 0.971 0.552 D 0.777 0.553 P 0.007 0.315 U 1 0.090 P 3.17 0.889 M 8.53 0.002 T -2.74 0.582 D 0.069 0.061 -0.976 0.360 T 0.000 0.000 T . . . 2.990 0.420 22.2 0.963 0.288 0.091 0.148 N c -0.210 -0.523 0.000 0.012 0.487 0.133 0 1.43 0.215 -0.009 0.126 -0.784 0.033 0.000 0.063 0.001 0.043 7.014 0.239 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000127507.13 Cells_Transformed_fibroblasts 0.1811 0.2390 0.2339 0.0974 0.0282 0.1765 0.1929 0.1813 0.1678 0.1962 0.2491 0.2410 0.1291 0.0253 0.1760 0.1892 0.1704 hom 3745.05 114 19 14910210 . C G 3745.05 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9726;MQ=59.43;MQ0=0;QD=32.85;VQSLOD=8.8560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:114:99:3708,292,0 19 14910321 14910321 A G exonic OR7C1 nonsynonymous SNV OR7C1:NM_198944:exon1:c.T628C:p.S210P 0.24 0.46 0.22 0.055 0.22 0.19 0.2012 0.4162 0.2464 0.0281 0.1677 0.1877 0.1567 0.1973 0.27 0.4 0.2 0.29 0.16 rs16979912 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.002 0.366 N 1 0.090 P -1.105 0.010 N 1.97 0.221 T 6.38 0.000 N 0.045 0.035 -0.916 0.461 T 0.000 0.000 T . . . -1.318 0.022 0.004 0.082 0.001 0.001 0.009 N c -1.728 -1.620 0.000 0.012 0.487 0.133 0 2.59 0.300 -2.581 0.010 -0.085 0.118 0.000 0.063 0.001 0.043 5.832 0.177 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000127507.13 Cells_Transformed_fibroblasts 0.1990 0.4153 0.2466 0.1072 0.0287 0.1765 0.1946 0.1972 0.1967 0.2464 0.4216 0.2554 0.1391 0.0253 0.1761 0.1906 0.1864 hom 4125.77 130 19 14910321 . A G 4125.77 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9973;MQ=59.54;MQ0=0;QD=31.74;VQSLOD=9.8008;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4125,319,0 19 14910438 14910438 C T exonic OR7C1 nonsynonymous SNV OR7C1:NM_198944:exon1:c.G511A:p.E171K 0.97 1. 0.94 1. 0.9 0.99 0.9352 0.9843 0.9629 1 0.9019 0.9060 0.9306 0.9826 0.94 0.98 0.91 0.97 0.93 rs10415312 . . . . . . . . . . . . . 0.204 0.200 T 0.017 0.163 B 0.007 0.121 B 0.395 0.045 N 1 0.090 P 0.61 0.157 N 1.19 0.376 T -1.52 0.370 N 0.058 0.055 -1.014 0.258 T 0.000 0.000 T . . . 0.222 0.115 4.912 0.792 0.122 0.004 0.022 N c -1.842 -1.994 0.186 0.179 0.487 0.133 0 -7.27 0.013 -7.033 0.001 -2.410 0.003 0.000 0.063 0.000 0.016 6.942 0.235 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9351 0.9847 0.9570 0.9164 0.9999 0.9094 0.9058 0.9278 0.9828 0.9336 0.9818 0.9630 0.9305 1 0.9071 0.9035 0.9245 hom 6397.37 192 19 14910438 . C T 6397.37 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.78;MQ0=0;QD=33.32;VQSLOD=9.9335;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:6397,503,0 19 14910573 14910573 C T exonic OR7C1 nonsynonymous SNV OR7C1:NM_198944:exon1:c.G376A:p.V126I 0.84 0.88 0.79 0.89 0.74 0.87 0.7849 0.8520 0.7634 0.8875 0.7805 0.7492 0.7775 0.8507 0.79 0.85 0.76 0.75 0.75 rs10415562 . . . . . . . . . . . . . 1.0 0.010 T 0.007 0.131 B 0.001 0.040 B 0.002 0.371 N 1.000 0.182 P -1.7 0.004 N 1.73 0.264 T 0.92 0.016 N 0.037 0.018 -0.993 0.317 T 0.000 0.000 T . . . 0.355 0.128 6.213 0.114 0.002 0.019 0.057 N c -1.297 -1.050 0.000 0.012 0.487 0.133 0 2.59 0.300 1.918 0.394 -0.073 0.120 0.998 0.411 0.027 0.143 4.313 0.103 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.7815 0.8517 0.7638 0.6684 0.8878 0.7888 0.7525 0.7463 0.8483 0.7935 0.8517 0.7661 0.7053 0.9026 0.7885 0.7524 0.7941 hom 4164.07 126 19 14910573 . C T 4164.07 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4708;MQ=59.63;MQ0=0;QD=33.05;VQSLOD=8.0863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4164,331,0 19 14910654 14910654 T C exonic OR7C1 nonsynonymous SNV OR7C1:NM_198944:exon1:c.A295G:p.S99G 0.2 0.33 0.22 0.049 0.22 0.15 0.1878 0.3229 0.2385 0.0274 0.1677 0.1861 0.1465 0.1682 0.24 0.32 0.2 0.21 0.16 rs17230134 . . . . . . . . . . . . . 0.004 0.654 D 0.215 0.284 B 0.071 0.265 B 0.840 0.070 U 1 0.090 P 1.125 0.290 L 4.08 0.030 T -2.73 0.580 D 0.057 0.045 -0.936 0.432 T 0.000 0.000 T . . . -0.236 0.073 0.919 0.810 0.130 0.006 0.026 N c -1.400 -1.524 0.000 0.012 0.487 0.133 0 -0.988 0.097 -4.154 0.003 -0.747 0.035 0.000 0.063 0.000 0.016 8.155 0.302 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000127507.13 Cells_Transformed_fibroblasts 0.1874 0.3220 0.2387 0.1029 0.0282 0.1764 0.1933 0.1838 0.1678 0.2190 0.3279 0.2476 0.1358 0.0255 0.1762 0.1893 0.1762 hom 3480.06 106 19 14910654 . T C 3480.06 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4522;MQ=59.59;MQ0=0;QD=32.83;VQSLOD=8.8101;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3480,280,0 19 15052983 15052983 - ATC exonic OR7C2 nonframeshift insertion OR7C2:NM_012377:exon1:c.683_684insATC:p.S229_A230insS 0.99 1. 0.99 1. 0.98 1. 0.9901 0.9978 0.9890 1 0.9884 0.9856 0.9923 0.9996 0.99 1. 0.98 . . rs397816267 COSM4603541 22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9894 0.9978 0.9904 0.9947 1 0.9867 0.9838 0.9867 0.9993 0.9899 0.9963 0.9964 0.9967 1 0.9840 0.9859 0.9929 hom 8772.01 132 19 15052983 . T TATC 8772.01 Mask AC=2;AF=1.00;AN=2;DP=132;FS=0.000;HRun=0;HaplotypeScore=352.0481;MQ=51.97;MQ0=0;QD=66.45;set=variant2 GT:AD:DP:GQ:PL 1/1:7,122:132:99:8772,394,0 19 15063757 15063757 A G exonic SLC1A6 synonymous SNV SLC1A6:NM_005071:exon8:c.T1482C:p.I494I 0.25 0.42 0.21 0.32 0.14 0.09 0.1690 0.3809 0.2081 0.3282 0.1275 0.1294 0.1563 0.1021 0.21 0.38 0.12 0.26 0.11 rs2229896 COSM4418477 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1633 0.3879 0.2019 0.1449 0.3218 0.1290 0.1228 0.1560 0.0994 0.2050 0.3841 0.1986 0.1722 0.3252 0.1294 0.1105 0.1520 het 2786.17 242 19 15063757 . A G 2786.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.215;DP=242;Dels=0.00;FS=3.168;HRun=0;HaplotypeScore=5.4012;MQ=59.71;MQ0=0;MQRankSum=-0.459;QD=11.51;ReadPosRankSum=0.820;VQSLOD=4.8264;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:123,119:242:99:2816,0,3437 19 15083693 15083693 C A exonic SLC1A6 synonymous SNV SLC1A6:NM_005071:exon1:c.G30T:p.L10L,SLC1A6:NM_001272088:exon2:c.G30T:p.L10L,SLC1A6:NM_001272087:exon4:c.G30T:p.L10L 0.55 0.51 0.47 0.66 0.52 0.59 0.5873 0.5594 0.5631 0.6732 0.6568 0.5767 0.5864 0.5870 0.53 0.52 0.53 0.54 0.21 rs3746295 COSM438761;COSM3766275 1(liver);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.018 0.165 B 0.011 0.145 B . . . 0.989 0.810 P . . . -0.8 0.739 T -0.52 0.162 N . . -0.904 0.476 T 0.000 0.000 T . . . 1.967 0.297 16.00 0.961 0.283 0.864 0.454 D c -0.118 0.020 1.000 0.489 0.646 0.450 0 4.41 0.524 0.286 0.185 0.892 0.403 0.951 0.329 1.000 0.888 12.362 0.544 . ENSG00000105143.8|ENSG00000105143.8 Skin_Sun_Exposed_Lower_leg|Testis 0.5335 0.5087 0.4889 0.3752 0.6433 0.5912 0.5307 0.5023 0.5554 0.5338 0.5024 0.4499 0.4133 0.6448 0.5738 0.5368 0.5510 hom 348.14 12 19 15083693 . C A 348.14 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.01;VQSLOD=13.4751;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:381,30,0 19 15133762 15133762 G C exonic CCDC105 nonsynonymous SNV CCDC105:NM_173482:exon7:c.G1331C:p.S444T 0.86 0.95 0.85 0.91 0.81 0.74 0.8364 0.9295 0.8390 0.9179 0.7675 0.8344 0.8498 0.7663 0.86 0.92 0.82 0.91 0.77 rs8111625 COSM3766276 2(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.419 0.046 N 1 0.090 P -1.455 0.005 N 4.3 0.025 T -0.52 0.162 N 0.024 0.007 -1.041 0.170 T 0.000 0.000 T . . . -1.342 0.021 0.004 0.118 0.002 0.001 0.005 N c -1.554 -1.469 0.353 0.197 0.403 0.052 0 0.78 0.176 0.262 0.181 0.037 0.153 0.000 0.063 0.768 0.327 3.917 0.087 . . . 0.8290 0.9326 0.8317 0.9388 0.9204 0.7551 0.8233 0.8460 0.7588 0.8424 0.9321 0.8357 0.9238 0.9291 0.7576 0.8012 0.8103 hom 987.70 29 19 15133762 . G C 987.70 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.70;MQ0=0;QD=34.06;VQSLOD=9.5002;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:81.25:1021,81,0 19 15164442 15164442 G A exonic CASP14 synonymous SNV CASP14:NM_012114:exon3:c.G177A:p.E59E 0.0002 . . . 0.001 . 0.0009 0.0003 0.0002 0 0 0.0017 0 0 0.0018 0.0005 0.0026 . . rs112231728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0010 0.0003 0.0002 0.0007 0 0 0.0019 0.0005 0 0.0012 0.0003 0 0 0 0 0.0022 0.0010 het 1970.47 170 19 15164442 . G A 1970.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.405;DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7368;MQ=59.14;MQ0=0;MQRankSum=1.014;QD=11.59;ReadPosRankSum=1.454;VQSLOD=5.2578;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,72:170:99:2000,0,2687 19 15198263 15198263 A G exonic OR1I1 synonymous SNV OR1I1:NM_001004713:exon1:c.A387G:p.P129P 1. 1. 1. 1. 1. 1. 0.9997 0.9998 0.9998 0.9987 0.9995 0.9998 1 1 1. 1. 1. 0.99 1. rs8105277 COSM4131298 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9999 0.9999 1 0.9987 0.9991 0.9998 0.9998 1 0.9998 0.9998 1 1 0.9994 0.9989 1 1 hom 2621.75 81 19 15198263 . A G 2621.75 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.37;VQSLOD=13.6785;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2655,220,0 19 15198292 15198292 C G exonic OR1I1 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.C416G:p.P139R 0.67 0.38 0.77 0.62 0.83 0.89 0.8009 0.4270 0.7580 0.6215 0.8544 0.8620 0.8201 0.8902 0.71 0.44 0.84 0.58 0.84 rs8104843 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.412 0.130 N 1 0.090 P -2.085 0.002 N 1.5 0.312 T 3.34 0.001 N 0.032 0.014 -1.007 0.280 T 0.000 0.000 T . . . -2.432 0.004 0.001 0.417 0.030 0.001 0.006 N c -1.832 -1.742 0.000 0.029 0.487 0.133 0 -1.19 0.090 -0.052 0.117 -1.213 0.015 0.000 0.063 0.000 0.016 5.881 0.180 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8031 0.4170 0.7594 0.7841 0.6259 0.8502 0.8645 0.8028 0.8907 0.7158 0.4192 0.7363 0.7285 0.6475 0.8417 0.8589 0.8037 hom 2733.62 84 19 15198292 . C G 2733.62 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2857;MQ=59.73;MQ0=0;QD=32.54;VQSLOD=8.8372;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2767,241,0 19 15198507 15198507 T C exonic OR1I1 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.T631C:p.F211L 0.67 0.38 0.77 0.62 0.83 0.89 0.8013 0.4326 0.7587 0.6211 0.8547 0.8619 0.8194 0.8902 0.71 0.44 0.84 0.6 0.85 rs8108721 . . . . . . . . . . . . . 0.703 0.041 T 0.0 0.026 B 0.003 0.080 B 0.017 0.278 N 1 0.090 P 0.475 0.132 N 1.43 0.330 T -2.28 0.508 N 0.01 0.002 -0.930 0.442 T 0.000 0.000 T . . . -0.857 0.038 0.032 0.460 0.036 0.010 0.037 N c -1.286 -1.263 0.000 0.035 0.487 0.133 0 2.39 0.284 -0.584 0.058 0.069 0.176 0.000 0.063 0.005 0.090 3.758 0.081 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.8035 0.4226 0.7597 0.7841 0.6262 0.8504 0.8647 0.8025 0.8907 0.7176 0.4247 0.7363 0.7285 0.6488 0.8418 0.8591 0.8051 hom 4346.56 130 19 15198507 . T C 4346.56 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1526;MQ=59.15;MQ0=0;QD=33.44;VQSLOD=9.3105;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:130:99:4323,340,0 19 15198631 15198631 A C exonic OR1I1 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.A755C:p.Y252S 0.49 0.35 0.55 0.38 0.66 0.57 0.6064 0.3860 0.5149 0.3826 0.6432 0.6840 0.6446 0.5959 0.58 0.39 0.67 0.41 0.7 rs8105737 COSM4000534 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.016 0.518 D 0.999 0.764 D 0.979 0.728 D 0.012 0.293 U 0.630 0.307 P 3.815 0.956 H 1.02 0.407 T -8.48 0.973 D 0.17 0.214 -0.911 0.467 T 0.000 0.000 T . . . 3.485 0.477 23.1 0.955 0.265 0.812 0.403 D c 0.144 -0.066 0.000 0.070 0.487 0.133 0 3.59 0.401 0.457 0.214 0.234 0.260 0.092 0.224 0.233 0.224 8.490 0.321 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.6080 0.3778 0.5291 0.6734 0.3829 0.6446 0.6856 0.6347 0.6010 0.5693 0.3796 0.5323 0.6291 0.4181 0.6428 0.6778 0.5978 hom 4241.50 122 19 15198631 . A C 4241.50 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5824;MQ=59.18;MQ0=0;QD=34.77;VQSLOD=9.2368;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4241,334,0 19 15198666 15198666 T A exonic OR1I1 nonsynonymous SNV OR1I1:NM_001004713:exon1:c.T790A:p.S264T 0.0056 0.0008 0.01 . 0.019 0.001 0.0119 0.0022 0.0067 0 0.0378 0.0156 0.0155 0.0021 0.011 0.0023 0.015 . 0.0082 rs144766527 . . . . . . . . . . . . . 0.069 0.355 T 0.3 0.308 B 0.096 0.288 B 0.642 0.106 U 1 0.090 N 1.555 0.395 L 8.41 0.003 T -2.48 0.540 N 0.033 0.014 -1.066 0.103 T 0.000 0.001 T . . . 0.037 0.097 2.953 0.822 0.136 0.083 0.141 N c -0.875 -0.976 0.000 0.012 0.487 0.133 0 -0.906 0.099 0.037 0.136 0.114 0.208 0.000 0.063 0.001 0.043 1.047 0.015 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0123 0.0019 0.0068 0.0010 0 0.0402 0.0154 0.0146 0.0019 0.0134 0.0030 0.0024 0.0033 0.0006 0.0415 0.0149 0.0184 het 1378.64 121 19 15198666 . T A 1378.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.581;DP=121;Dels=0.00;FS=1.522;HRun=1;HaplotypeScore=7.7737;MQ=59.14;MQ0=0;MQRankSum=-0.276;QD=11.39;ReadPosRankSum=0.981;VQSLOD=2.9015;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:64,56:121:99:1409,0,1710 19 15198764 15198764 T C exonic OR1I1 synonymous SNV OR1I1:NM_001004713:exon1:c.T888C:p.D296D 0.9 0.97 0.91 0.8 0.9 0.92 0.9116 0.9529 0.8800 0.7992 0.9468 0.9175 0.9130 0.9284 0.92 0.95 0.91 0.9 0.95 rs12975625 COSM5618786 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9087 0.9526 0.8805 0.8305 0.8022 0.9498 0.9215 0.8979 0.9282 0.9253 0.9527 0.8842 0.8046 0.8115 0.9387 0.9233 0.9257 hom 3639.02 119 19 15198764 . T C 3639.02 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3537;MQ=58.58;MQ0=0;QD=30.58;VQSLOD=9.1052;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3639,274,0 19 15226970 15226970 G A exonic ILVBL synonymous SNV ILVBL:NM_006844:exon12:c.C1464T:p.L488L 0.41 0.25 0.47 0.48 0.51 0.43 0.4692 0.2700 0.4131 0.4658 0.5444 0.5070 0.4812 0.4523 0.42 0.28 0.49 0.37 0.37 rs2074262 COSM3756388 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4707 0.2648 0.4143 0.4088 0.4596 0.5524 0.5113 0.4709 0.4552 0.4355 0.2659 0.3890 0.4503 0.4771 0.5513 0.5034 0.4632 het 1128.24 84 19 15226970 . G A 1128.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.287;DP=84;Dels=0.00;FS=2.122;HRun=1;HaplotypeScore=0.9789;MQ=59.73;MQ0=0;MQRankSum=-1.152;QD=13.43;ReadPosRankSum=0.487;VQSLOD=6.4258;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,41:84:99:1158,0,1067 19 15227030 15227030 G A exonic ILVBL synonymous SNV ILVBL:NM_006844:exon12:c.C1404T:p.G468G 0.63 0.73 0.64 0.54 0.71 0.5 0.6649 0.7068 0.5734 0.5376 0.6735 0.7177 0.6883 0.5509 0.71 0.7 0.72 0.63 0.7 rs2074263 COSM3766278 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6640 0.7100 0.5871 0.7244 0.5327 0.6871 0.7198 0.6806 0.5568 0.6954 0.7102 0.5909 0.7133 0.5458 0.6816 0.7141 0.6598 hom 7260.05 236 19 15227030 . G A 7260.05 Mask AC=2;AF=1.00;AN=2;DP=236;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6128;MQ=59.57;MQ0=0;QD=30.76;VQSLOD=7.5015;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,235:236:99:7259,572,0 19 15233581 15233581 C A exonic ILVBL synonymous SNV ILVBL:NM_006844:exon6:c.G639T:p.L213L 0.56 0.75 0.41 0.56 0.45 0.51 0.4929 0.7163 0.3934 0.6013 0.5227 0.4576 0.4580 0.4978 0.56 0.72 0.47 0.62 0.3 rs2074265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4850 0.7163 0.3999 0.3502 0.5966 0.5192 0.4674 0.4475 0.4890 0.5463 0.7136 0.4067 0.3510 0.6070 0.5175 0.4662 0.4663 het 1837.40 163 19 15233581 . C A 1837.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.259;DP=163;Dels=0.00;FS=2.797;HRun=1;HaplotypeScore=9.5747;MQ=59.35;MQ0=0;MQRankSum=1.289;QD=11.27;ReadPosRankSum=1.313;VQSLOD=4.1563;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,74:163:99:1867,0,2575 19 15271771 15271771 G A exonic NOTCH3 nonsynonymous SNV NOTCH3:NM_000435:exon33:c.C6668T:p.A2223V 0.63 0.5 0.62 0.57 0.77 0.72 0.7591 0.6000 0.6209 0.6421 0.8290 0.8094 0.7632 0.7382 0.73 0.6 0.8 0.62 0.14 rs1044009 COSM3756389;COSM3756390 1(thyroid);3(large_intestine) Benign|Benign not_specified|Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy RCV000249070.2|RCV000278901.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C1272305:125310:390936003 . . . . . . 0.175 0.224 T 0.001 0.067 B 0.003 0.080 B . . . 1 0.090 P 0.895 0.225 L -1.47 0.811 T -1.46 0.358 N 0.092 0.091 -0.953 0.404 T 0.000 0.000 T . . . 0.823 0.172 9.604 0.977 0.351 0.351 0.250 N c -1.037 -1.028 0.006 0.111 0.696 0.567 0 0.427 0.156 1.203 0.317 0.804 0.326 0.006 0.172 0.005 0.090 8.067 0.297 Domain of unknown function DUF3454\x2c notch . . 0.7154 0.5368 0.5539 0.7676 0.5848 0.8126 0.7898 0.7150 0.7165 0.7049 0.5350 0.5943 0.7682 0.5856 0.8099 0.7920 0.7813 het 66.25 14 19 15271771 . G A 66.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.636;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.54;MQ0=0;MQRankSum=0.919;QD=4.73;ReadPosRankSum=-0.919;VQSLOD=4.8101;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,4:14:96.24:96,0,287 19 15285052 15285052 T C exonic NOTCH3 synonymous SNV NOTCH3:NM_000435:exon25:c.A4563G:p.P1521P 0.87 0.99 0.76 0.8 0.88 0.85 0.8812 0.9789 0.7356 0.8188 0.8962 0.9017 0.8840 0.8632 0.93 0.98 0.9 0.9 0.35 rs1044006 COSM438775;COSM1480700 10(large_intestine) Benign|Benign not_specified|Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy RCV000249034.1|RCV000315021.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C1272305:125310:390936003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8626 0.9790 0.7177 0.8713 0.8014 0.8853 0.9006 0.8558 0.8599 0.9112 0.9774 0.7560 0.8974 0.8045 0.8885 0.9005 0.8798 hom 503.80 17 19 15285052 . T C 503.80 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.64;VQSLOD=12.5879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.13:537,48,0 19 15302844 15302844 T C exonic NOTCH3 synonymous SNV NOTCH3:NM_000435:exon4:c.A606G:p.A202A 0.86 0.92 0.74 0.87 0.85 0.84 0.8581 0.9119 0.6915 0.8673 0.8723 0.8802 0.8478 0.8426 0.89 0.91 0.88 0.87 0.88 rs1043994 . . Benign|Benign not_specified|Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy RCV000242339.1|RCV000374496.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C1272305:125310:390936003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8484 0.9082 0.7007 0.8706 0.8637 0.8662 0.8796 0.8366 0.8407 0.8808 0.9088 0.7452 0.9073 0.8795 0.8643 0.8779 0.8469 hom 2502.58 81 19 15302844 . T C 2502.58 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.43;MQ0=0;QD=30.90;VQSLOD=9.0819;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2536,211,0 19 15303225 15303225 G A exonic NOTCH3 synonymous SNV NOTCH3:NM_000435:exon3:c.C303T:p.T101T 0.22 0.25 0.16 0.39 0.15 0.14 0.1822 0.2711 0.2001 0.3594 0.0998 0.1548 0.1574 0.1594 0.18 0.25 0.15 0.22 0.2 rs3815188 COSM5019657;COSM5019658 5(soft_tissue) Benign|Benign not_specified|Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy RCV000251392.1|RCV000373577.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C1272305:125310:390936003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1737 0.2625 0.1944 0.1591 0.3455 0.0915 0.1519 0.1578 0.1551 0.1787 0.2575 0.1790 0.1854 0.3546 0.0920 0.1376 0.1214 hom 1424.05 47 19 15303225 . G A 1424.05 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.659;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3976;MQ=60.00;MQ0=0;MQRankSum=-0.995;QD=30.30;ReadPosRankSum=0.700;VQSLOD=8.1219;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,46:47:99:1457,120,0 19 15508362 15508362 G C exonic AKAP8L nonsynonymous SNV AKAP8L:NM_001291478:exon11:c.C1191G:p.H397Q,AKAP8L:NM_014371:exon11:c.C1374G:p.H458Q 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. . rs2058322 COSM4590696;COSM4590695 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 hom 1647.97 56 19 15508362 . G C 1647.97 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.43;VQSLOD=12.9928;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:56:99:1681,126,0 19 15582863 15582863 C T exonic PGLYRP2 nonsynonymous SNV PGLYRP2:NM_052890:exon3:c.G1181A:p.R394Q 0.22 0.16 0.24 0.3 0.22 0.23 0.2199 0.1647 0.2738 0.2968 0.2182 0.2066 0.2273 0.2275 0.19 0.15 0.21 0.087 0.049 rs34440547 COSM3756392;COSM3756393 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.232 0.216 T 0.025 0.179 B 0.009 0.162 B 0.357 0.137 N 1.000 0.189 P 1.185 0.302 L 2.26 0.176 T -1.85 0.435 N 0.026 0.021 -0.942 0.424 T 0.000 0.000 T . . . 1.154 0.205 11.50 0.958 0.272 0.120 0.168 N c -1.260 -1.284 0.011 0.121 0.487 0.133 0 0.993 0.189 -0.372 0.075 0.061 0.167 0.000 0.063 0.005 0.090 8.934 0.347 N-acetylmuramoyl-L-alanine amidase domain|Peptidoglycan recognition protein family domain\x2c metazoa/bacteria . . 0.2188 0.1597 0.2636 0.1927 0.2885 0.2128 0.2040 0.2191 0.2246 0.1979 0.1592 0.25 0.1689 0.2889 0.1919 0.2068 0.2423 het 473.41 42 19 15582863 . C T 473.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.680;DP=42;Dels=0.00;FS=1.273;HRun=0;HaplotypeScore=1.9973;MQ=59.28;MQ0=1;MQRankSum=-0.797;QD=11.27;ReadPosRankSum=-0.719;VQSLOD=6.1616;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,19:42:99:503,0,531 19 15586672 15586672 A T exonic PGLYRP2 nonsynonymous SNV PGLYRP2:NM_052890:exon2:c.T809A:p.M270K 0.37 0.41 0.34 0.36 0.39 0.3 0.3594 0.4004 0.3480 0.3499 0.3879 0.3679 0.3661 0.3019 0.38 0.39 0.38 0.4 0.34 rs892145 COSM1129966;COSM1129965 2(haematopoietic_and_lymphoid_tissue);2(prostate);2(large_intestine) . . . . . . . . . . . 0.136 0.260 T 0.137 0.258 B 0.104 0.295 B 0.584 0.055 N 1 0.090 P 2.4 0.697 M 3.68 0.042 T -1.22 0.318 N 0.134 0.202 -0.925 0.449 T 0.000 0.000 T . . . -1.039 0.030 0.013 0.706 0.090 0.023 0.066 N c -1.150 -1.162 0.000 0.042 0.554 0.246 0 -1.07 0.094 0.096 0.149 0.218 0.255 0.006 0.172 0.817 0.342 12.759 0.566 . ENSG00000105122.8 Adipose_Subcutaneous 0.3577 0.3999 0.3457 0.3003 0.3486 0.3879 0.3710 0.3693 0.3017 0.3902 0.3994 0.3397 0.2980 0.3416 0.3890 0.3931 0.4204 het 803.50 69 19 15586672 . A T 803.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.466;DP=69;Dels=0.00;FS=3.392;HRun=1;HaplotypeScore=0.9989;MQ=58.02;MQ0=0;MQRankSum=0.454;QD=11.64;ReadPosRankSum=0.847;VQSLOD=4.5536;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,33:69:99:833,0,978 19 15587185 15587185 C T exonic PGLYRP2 nonsynonymous SNV PGLYRP2:NM_052890:exon2:c.G296A:p.R99Q 0.35 0.35 0.34 0.36 0.41 0.3 0.3614 0.3446 0.3462 0.3525 0.4146 0.3773 0.3687 0.3014 0.37 0.34 0.39 0.4 0.43 rs733731 COSM438799;COSM438798 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.889 0.025 T 0.03 0.186 B 0.005 0.104 B 0.898 0.086 N 1 0.090 P 0.17 0.090 N 3.57 0.330 T 0.42 0.035 N 0.016 0.004 -0.915 0.463 T 0.000 0.000 T . . . -0.994 0.032 0.016 0.497 0.042 0.002 0.013 N c -1.772 -1.796 0.005 0.109 0.487 0.133 0 -5.85 0.021 -0.436 0.069 -0.243 0.092 0.018 0.193 0.003 0.074 14.063 0.642 . ENSG00000105122.8 Adipose_Subcutaneous 0.3619 0.3491 0.3443 0.3103 0.3500 0.4179 0.3802 0.375 0.3014 0.3849 0.3535 0.3425 0.3079 0.3418 0.4195 0.4011 0.4255 het 1985.04 152 19 15587185 . C T 1985.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.444;DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7059;MQ=59.54;MQ0=0;MQRankSum=-0.408;QD=13.06;ReadPosRankSum=0.039;VQSLOD=6.5430;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,71:152:99:2015,0,1928 19 15587345 15587345 T C exonic PGLYRP2 nonsynonymous SNV PGLYRP2:NM_052890:exon2:c.A136G:p.T46A 0.35 0.35 0.34 0.37 0.4 0.3 0.3646 0.3466 0.3493 0.3528 0.4230 0.3787 0.3736 0.3116 0.37 0.34 0.38 0.4 0.36 rs3813135 COSM148524;COSM148523 1(stomach);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.857 0.089 N 1 0.090 P -1.78 0.003 N 3.9 0.221 T 0.81 0.018 N 0.005 0.002 -0.925 0.449 T 0.000 0.000 T . . . -2.374 0.004 0.001 0.139 0.003 0.000 0.003 N c -1.743 -1.600 0.001 0.075 0.487 0.133 0 2.05 0.257 -0.033 0.121 -0.935 0.025 0.000 0.063 0.000 0.016 6.141 0.194 . . . 0.3617 0.3483 0.3446 0.3101 0.3528 0.4174 0.3793 0.3739 0.3023 0.3849 0.3533 0.3405 0.3079 0.3435 0.4190 0.4011 0.4264 het 673.49 51 19 15587345 . T C 673.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.986;DP=51;Dels=0.00;FS=2.637;HRun=1;HaplotypeScore=1.9621;MQ=60.00;MQ0=0;MQRankSum=0.952;QD=13.21;ReadPosRankSum=0.141;VQSLOD=6.4451;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,25:51:99:703,0,721 19 15726487 15726487 G T exonic CYP4F8 unknown UNKNOWN 0.52 0.52 0.49 0.43 0.63 0.54 0.5814 0.5106 0.4390 0.4180 0.6179 0.6462 0.6047 0.5323 0.6 0.5 0.65 0.59 . rs4646523 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5760 0.4971 0.4543 0.6558 0.4180 0.6035 0.6459 0.6107 0.5316 0.5767 0.5013 0.5216 0.5927 0.4037 0.6125 0.6314 0.6125 het 1225.44 93 19 15726487 . G T 1225.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.540;DP=93;Dels=0.00;FS=3.965;HRun=1;HaplotypeScore=3.7599;MQ=59.50;MQ0=0;MQRankSum=0.111;QD=13.18;ReadPosRankSum=1.718;VQSLOD=4.6326;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,45:93:99:1255,0,1388 19 15730498 15730498 - C exonic CYP4F8 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 1. 1. 1. 1. . rs55848814 COSM4603535 23(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1 0.9998 1 1 1 1 1 1 1 1 1 hom 3564.45 76 19 15730498 . G GC 3564.45 Mask AC=2;AF=1.00;AN=2;DP=76;FS=0.000;HRun=0;HaplotypeScore=272.2329;MQ=59.66;MQ0=0;QD=46.90;set=variant2 GT:AD:DP:GQ:PL 1/1:1,75:76:99:3564,226,0 19 15730502 15730502 C T exonic CYP4F8 unknown UNKNOWN 0.1 0.048 0.13 0.04 0.21 0.1 0.1527 0.0635 0.1092 0.0489 0.1686 0.1970 0.1759 0.1056 . . . 0.11 . rs61746468 COSM4594198 6(upper_aerodigestive_tract) . . . . . . . . . . . . . . 1.0 0.899 D 0.993 0.797 D 0.000 0.843 U . . . . . . . . . . . . . . -0.063 0.809 T 0.357 0.720 T . . . 0.783 0.169 9.357 0.998 0.879 0.914 0.533 D c 0.252 0.124 0.471 0.207 0.054 0.004 0 2.97 0.333 3.601 0.536 -0.489 0.052 0.997 0.399 0.159 0.207 11.734 0.508 . . . 0.1518 0.0625 0.1143 0.1668 0.0455 0.1666 0.1994 0.1838 0.1026 0.1523 0.0625 0.1169 0.1523 0.0476 0.1675 0.2106 0.2092 het 951.15 81 19 15730502 . C T 951.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.630;DP=81;Dels=0.00;FS=3.027;HRun=0;HaplotypeScore=2.5655;MQ=58.84;MQ0=0;MQRankSum=0.241;QD=11.74;ReadPosRankSum=0.440;VQSLOD=5.5940;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,39:81:99:981,0,1061 19 15739597 15739597 A C exonic CYP4F8 unknown UNKNOWN 0.71 0.76 0.76 0.72 0.73 0.6 0.7341 0.7308 0.8148 0.7373 0.7963 0.7385 0.7267 0.6343 0.74 0.74 0.74 0.74 . rs2056822 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7365 0.7288 0.8035 0.7383 0.7352 0.7881 0.7351 0.7372 0.6359 0.7450 0.7274 0.7590 0.7081 0.7509 0.7897 0.7415 0.7859 hom 4093.26 132 19 15739597 . A C 4093.26 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.6828;MQ=59.21;MQ0=0;QD=31.01;VQSLOD=9.7334;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4092,328,0 19 15760053 15760053 G A exonic CYP4F3 synonymous SNV CYP4F3:NM_000896:exon6:c.G609A:p.L203L,CYP4F3:NM_001199208:exon6:c.G609A:p.L203L,CYP4F3:NM_001199209:exon6:c.G609A:p.L203L 0.086 0.023 0.12 0.04 0.2 0.074 0.1373 0.0392 0.1064 0.0485 0.1456 0.1819 0.1619 0.0824 0.14 0.042 0.18 0.098 0.22 rs1053037 COSM3756394;COSM3756395 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1386 0.0363 0.1108 0.1706 0.0452 0.1412 0.1858 0.1761 0.0817 0.1366 0.0396 0.1232 0.1623 0.0465 0.1447 0.1977 0.1899 het 2985.87 245 19 15760053 . G A 2985.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.034;DP=245;DS;Dels=0.00;FS=4.302;HRun=0;HaplotypeScore=4.9364;MQ=56.93;MQ0=0;MQRankSum=-1.328;QD=12.14;ReadPosRankSum=-0.917;VQSLOD=2.3309;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,122:245:99:3016,0,3255 19 15784386 15784386 C T exonic CYP4F12 nonsynonymous SNV CYP4F12:NM_023944:exon2:c.C47T:p.T16M 0.87 0.77 0.93 1. 0.87 0.82 0.9341 0.8839 0.9729 1 0.9374 0.9305 0.9470 0.9158 0.91 0.88 0.93 0.89 0.89 rs16995378 COSM4131333 1(thyroid) . . . . . . . . . . . 0.051 0.393 T 0.607 0.509 P 0.042 0.406 B 0.002 0.009 U 1 0.090 P 1.445 0.365 L -2.34 0.880 D -0.98 0.260 N 0.091 0.160 -0.835 0.530 T 0.000 0.000 T . . . 3.147 0.438 22.6 0.990 0.501 0.033 0.083 N c -0.887 -1.010 1.000 0.747 0.554 0.283 0 1.42 0.214 0.250 0.179 -0.619 0.043 0.000 0.063 0.000 0.016 5.398 0.155 . ENSG00000186204.10|ENSG00000267594.5 Lung|Nerve_Tibial 0.9360 0.8812 0.9704 0.9263 0.9999 0.9371 0.9298 0.9329 0.9153 0.9118 0.8835 0.9559 0.7910 1 0.9447 0.9078 0.9226 het 2618.59 202 19 15784386 . C T 2618.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.028;DP=202;Dels=0.00;FS=1.847;HRun=0;HaplotypeScore=6.3137;MQ=58.41;MQ0=0;MQRankSum=-0.350;QD=12.96;ReadPosRankSum=-1.340;VQSLOD=3.9039;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,102:202:99:2649,0,2621 19 15789098 15789098 A G exonic CYP4F12 nonsynonymous SNV CYP4F12:NM_023944:exon3:c.A226G:p.N76D 0.82 0.72 0.88 0.97 0.82 0.76 0.9360 0.9021 0.9737 1 0.9374 0.9306 0.9480 0.9167 0.92 0.91 0.93 0.94 0.99 rs609636 . . . . . . . . . . . . . 0.229 0.183 T 0.0 0.026 B 0.001 0.093 B 0.734 0.064 N 1 0.090 P -0.57 0.023 N -2.32 0.878 D -0.35 0.129 N 0.01 0.135 -1.013 0.260 T 0.000 0.000 T . . . -2.046 0.007 0.001 0.522 0.046 0.002 0.011 N c -1.641 -1.773 0.989 0.316 0.487 0.133 0 -5.84 0.021 -1.188 0.032 -2.857 0.002 0.000 0.063 0.000 0.016 6.275 0.201 . ENSG00000186204.10|ENSG00000186204.10|ENSG00000267594.5 Adipose_Visceral_Omentum|Lung|Nerve_Tibial 0.9376 0.9015 0.9716 0.9263 0.9999 0.9371 0.9300 0.9336 0.9160 0.9070 0.9045 0.9560 0.7 1 0.9447 0.8803 0.9209 het 3996.73 249 19 15789098 . A G 3996.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.953;DP=249;DS;Dels=0.00;FS=0.472;HRun=1;HaplotypeScore=9.7636;MQ=58.36;MQ0=0;MQRankSum=0.286;QD=16.05;ReadPosRankSum=-1.458;VQSLOD=3.3055;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,126:249:99:3364,0,3231 19 15990431 15990431 C T exonic CYP4F2 nonsynonymous SNV CYP4F2:NM_001082:exon11:c.G1297A:p.V433M 0.24 0.083 0.24 0.21 0.29 0.41 0.2726 0.0991 0.2225 0.2537 0.2009 0.2851 0.2841 0.4043 0.23 0.097 0.29 0.21 0.3 rs2108622 COSM3756415 1(pancreas);1(thyroid);1(large_intestine) drug response|drug response|drug response acenocoumarol_response_-_Dosage|warfarin_response_-_Dosage|phenprocoumon_response_-_Dosage RCV000211144.1|RCV000211318.1|RCV000211328.1 MedGen|MedGen|MedGen CN236457|CN236549|CN236542 Warfarin maintenance dose . . 20833655 rs2108622 3E-8 0.005 0.632 D 1.0 0.899 D 0.98 0.732 D 0.000 0.559 U 0.002 0.450 P 4.025 0.970 H -0.51 0.706 T -2.66 0.569 D 0.18 0.219 -1.120 0.023 T 0.000 0.000 T . . . 5.430 0.736 26.1 0.997 0.797 0.568 0.300 D c 0.329 0.134 0.001 0.075 0.554 0.246 0 1.72 0.234 1.681 0.370 0.781 0.315 0.870 0.305 0.940 0.414 7.54 0.267 . ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000171903.12|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000171903.12|ENSG00000267453.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.2735 0.0963 0.2278 0.3426 0.2498 0.1983 0.2889 0.2930 0.3978 0.2083 0.0945 0.2536 0.3642 0.2444 0.1850 0.2682 0.2439 het 2578.32 250 19 15990431 . C T 2578.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.113;DP=250;DS;Dels=0.00;FS=4.531;HRun=0;HaplotypeScore=2.4440;MQ=59.21;MQ0=1;MQRankSum=0.391;QD=10.31;ReadPosRankSum=1.795;VQSLOD=5.5279;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:145,105:250:99:2608,0,3662 19 15996820 15996820 G A exonic CYP4F2 synonymous SNV CYP4F2:NM_001082:exon9:c.C1029T:p.H343H 0.23 0.17 0.24 0.22 0.3 0.25 0.2864 0.1852 0.2420 0.2478 0.3002 0.3214 0.2819 0.2549 0.27 0.19 0.31 0.3 0.34 rs2074900 COSM4416233 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2828 0.1792 0.2515 0.2547 0.2459 0.2982 0.3184 0.2684 0.2603 0.2793 0.1884 0.2241 0.2616 0.2410 0.3147 0.3302 0.3004 het 2144.36 157 19 15996820 . G A 2144.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.044;DP=157;Dels=0.00;FS=4.976;HRun=0;HaplotypeScore=0.5784;MQ=58.39;MQ0=2;MQRankSum=1.999;QD=13.66;ReadPosRankSum=-0.657;VQSLOD=4.0774;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,76:157:99:2174,0,2106 19 16006413 16006413 G A exonic CYP4F2 synonymous SNV CYP4F2:NM_001082:exon3:c.C246T:p.A82A 0.12 0.11 0.12 0.056 0.18 0.14 0.1490 0.1360 0.0895 0.0902 0.1189 0.1687 0.1578 0.1616 0.16 0.14 0.17 0.22 0.16 rs3093114 COSM3756416 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1400 0.1262 0.0876 0.1904 0.0773 0.1153 0.1626 0.1532 0.1499 0.1432 0.1353 0.1295 0.2148 0.0842 0.1040 0.1623 0.1499 het 2564.96 193 19 16006413 . G A 2564.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.409;DP=193;Dels=0.00;FS=3.856;HRun=0;HaplotypeScore=6.5628;MQ=58.69;MQ0=0;MQRankSum=0.713;QD=13.29;ReadPosRankSum=0.084;VQSLOD=4.2738;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,92:193:99:2595,0,2730 19 16008257 16008257 T C exonic CYP4F2 synonymous SNV CYP4F2:NM_001082:exon2:c.A165G:p.P55P 0.18 0.32 0.14 0.059 0.18 0.15 0.1680 0.3181 0.1020 0.0920 0.1195 0.1707 0.1740 0.1678 0.22 0.32 0.17 0.22 0.17 rs3093106 COSM3756417 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1623 0.3166 0.1132 0.2157 0.0886 0.1160 0.1700 0.1773 0.1663 0.1911 0.3012 0.1447 0.2367 0.0844 0.1044 0.1630 0.1595 het 2105.60 176 19 16008257 . T C 2105.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.082;DP=176;Dels=0.00;FS=1.916;HRun=0;HaplotypeScore=4.8959;MQ=59.20;MQ0=0;MQRankSum=0.270;QD=11.96;ReadPosRankSum=0.426;VQSLOD=4.9980;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,84:176:99:2136,0,2481 19 16008388 16008388 A C exonic CYP4F2 nonsynonymous SNV CYP4F2:NM_001082:exon2:c.T34G:p.W12G 0.16 0.24 0.13 0.059 0.18 0.15 0.1606 0.2421 0.0977 0.0918 0.1186 0.1702 0.1722 0.1678 0.19 0.23 0.17 0.24 0.16 rs3093105 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.053 0.228 N 1 0.090 P -2.715 0.000 N -2.29 0.876 D 3.04 0.001 N 0.057 0.040 -1.017 0.247 T 0.000 0.000 T . . . -2.263 0.005 0.001 0.319 0.018 0.001 0.009 N c -1.887 -1.869 0.988 0.313 0.554 0.246 0 -4.3 0.034 -1.285 0.029 -0.755 0.034 0.000 0.063 0.052 0.166 3.650 0.077 . ENSG00000267453.2|ENSG00000186115.8|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000171903.12|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2 Artery_Tibial|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Prostate|Skin_Sun_Exposed_Lower_leg 0.1561 0.2387 0.1076 0.2119 0.0886 0.1150 0.1694 0.1745 0.1664 0.1700 0.2266 0.1400 0.2318 0.0846 0.1041 0.1627 0.1605 het 1061.35 97 19 16008388 . A C 1061.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.146;DP=97;Dels=0.00;FS=6.622;HRun=2;HaplotypeScore=3.8298;MQ=58.67;MQ0=0;MQRankSum=0.355;QD=10.94;ReadPosRankSum=1.026;VQSLOD=4.1844;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,46:97:99:1091,0,1499 19 16024662 16024662 G C exonic CYP4F11 synonymous SNV CYP4F11:NM_021187:exon12:c.C1455G:p.T485T,CYP4F11:NM_001128932:exon13:c.C1455G:p.T485T 0.66 0.75 0.66 0.43 0.76 0.7 0.7271 0.7467 0.6276 0.5057 0.7731 0.7684 0.7428 0.7132 0.76 0.74 0.76 0.72 0.73 rs1064796 COSM4131341 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7199 0.7400 0.6389 0.7223 0.4998 0.7765 0.7655 0.7332 0.7124 0.7479 0.7371 0.6376 0.7583 0.4900 0.7805 0.7797 0.7556 hom 1470.71 53 19 16024662 . G C 1470.71 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.82;MQ0=0;QD=27.75;VQSLOD=7.4706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1504,126,0 19 16025176 16025176 C T exonic CYP4F11 nonsynonymous SNV CYP4F11:NM_021187:exon11:c.G1336A:p.D446N,CYP4F11:NM_001128932:exon12:c.G1336A:p.D446N 0.5 0.47 0.52 0.38 0.58 0.56 0.5672 0.4637 0.5359 0.4147 0.6507 0.6045 0.5905 0.5491 0.55 0.46 0.6 0.43 0.62 rs1060463 COSM4131342 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.054 0.386 T 0.265 0.299 B 0.172 0.337 B 0.001 0.428 U 0.088 0.364 P 2.195 0.620 M -0.34 0.685 T -4.24 0.760 D 0.017 0.052 -0.917 0.460 T 0.000 0.000 T . . . 1.172 0.207 11.60 0.737 0.101 0.387 0.258 N c -0.987 -1.075 0.000 0.054 0.487 0.133 0 0.696 0.172 0.456 0.214 -1.442 0.011 0.077 0.221 0.000 0.016 7.384 0.259 . ENSG00000171903.12|ENSG00000171903.12|ENSG00000171903.12|ENSG00000171903.12|ENSG00000171903.12|ENSG00000186115.8|ENSG00000267056.2|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000171903.12|ENSG00000267056.2|ENSG00000171903.12|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000171903.12|ENSG00000267056.2|ENSG00000267056.2|ENSG00000171903.12|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000267056.2|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000171903.12|ENSG00000267056.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid 0.5641 0.4576 0.5334 0.5151 0.4114 0.6565 0.6014 0.5663 0.5491 0.5673 0.4626 0.5024 0.5397 0.4102 0.6663 0.6234 0.6082 het 4143.61 241 19 16025176 . C T 4143.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.549;DP=241;DS;Dels=0.00;FS=6.191;HRun=1;HaplotypeScore=9.3434;MQ=59.35;MQ0=0;MQRankSum=1.513;QD=17.19;ReadPosRankSum=0.914;VQSLOD=3.6150;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,119:241:99:3448,0,2905 19 16034714 16034714 A G exonic CYP4F11 nonsynonymous SNV CYP4F11:NM_021187:exon6:c.T826C:p.C276R,CYP4F11:NM_001128932:exon7:c.T826C:p.C276R 0.84 0.75 0.85 0.99 0.79 0.87 0.8323 0.7575 0.9023 0.9920 0.8340 0.8089 0.8150 0.8413 0.79 0.76 0.8 0.84 0.87 rs8104361 COSM4131344 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.654 0.105 N 1 0.090 P -1.865 0.003 N -0.17 0.656 T 5.43 0.000 N 0.052 0.059 -0.970 0.372 T 0.000 0.000 T . . . -1.313 0.022 0.004 0.149 0.003 0.001 0.008 N c -1.644 -1.559 0.000 0.054 0.487 0.133 0 1.6 0.226 0.037 0.136 -0.099 0.117 0.000 0.063 0.106 0.191 2.604 0.045 . ENSG00000171903.12|ENSG00000171903.12|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000171903.12|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000171903.12|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000171903.12|ENSG00000267056.2|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000171903.12|ENSG00000267056.2 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.8331 0.7492 0.8957 0.7743 0.9937 0.8364 0.8047 0.8138 0.8392 0.8118 0.7457 0.8604 0.7881 0.9951 0.8396 0.8204 0.8292 hom 7289.62 230 19 16034714 . A G 7289.62 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5953;MQ=59.56;MQ0=0;QD=31.69;VQSLOD=8.3783;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7288,605,0 19 16040292 16040292 A G exonic CYP4F11 synonymous SNV CYP4F11:NM_021187:exon2:c.T318C:p.I106I,CYP4F11:NM_001128932:exon3:c.T318C:p.I106I 0.49 0.45 0.52 0.38 0.59 0.55 0.5642 0.4438 0.5376 0.4156 0.6509 0.6035 0.5892 0.5412 0.55 0.45 0.6 0.45 0.59 rs3765070 COSM4131345 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5615 0.4358 0.5351 0.5071 0.4115 0.6566 0.6011 0.5642 0.5417 0.5590 0.4359 0.5060 0.5233 0.4115 0.6666 0.6220 0.6061 het 4438.19 248 19 16040292 . A G 4438.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.713;DP=248;DS;Dels=0.00;FS=1.617;HRun=0;HaplotypeScore=5.5864;MQ=59.20;MQ0=0;MQRankSum=2.152;QD=17.90;ReadPosRankSum=-1.004;VQSLOD=3.9223;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:114,134:248:99:3811,0,2851 19 16045141 16045141 T C exonic CYP4F11 synonymous SNV CYP4F11:NM_021187:exon1:c.A78G:p.G26G,CYP4F11:NM_001128932:exon2:c.A78G:p.G26G 0.79 0.56 0.82 0.99 0.78 0.88 0.8140 0.5884 0.8854 0.9920 0.8337 0.8056 0.7925 0.8377 0.73 0.59 0.8 0.75 0.73 rs2305801 COSM4131346 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8179 0.5814 0.8797 0.7861 0.9937 0.8328 0.8010 0.7962 0.8337 0.7644 0.5876 0.8433 0.8033 0.9951 0.8367 0.8162 0.8220 hom 2733.29 85 19 16045141 . T C 2733.29 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.3091;MQ=59.51;MQ0=0;QD=32.16;VQSLOD=8.1969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2766,217,0 19 16060021 16060021 C T exonic OR10H4 synonymous SNV OR10H4:NM_001004465:exon1:c.C204T:p.S68S 0.24 0.46 0.18 0.053 0.26 0.16 0.2306 0.4286 0.1234 0.0916 0.2735 0.2477 0.2192 0.1680 0.3 0.42 0.24 0.36 0.23 rs16980821 COSM3756418 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2239 0.4298 0.1406 0.2733 0.0898 0.2632 0.2439 0.2458 0.1668 0.2977 0.4294 0.1699 0.2417 0.0854 0.2589 0.2618 0.2883 het 4066.29 249 19 16060021 . C T 4066.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.154;DP=249;DS;Dels=0.00;FS=2.800;HRun=0;HaplotypeScore=5.8745;MQ=59.16;MQ0=0;MQRankSum=0.374;QD=16.33;ReadPosRankSum=-0.365;VQSLOD=4.0939;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:134,114:249:99:3355,0,3842 19 16060248 16060248 A G exonic OR10H4 nonsynonymous SNV OR10H4:NM_001004465:exon1:c.A431G:p.H144R 0.24 0.46 0.18 0.055 0.26 0.16 0.2306 0.4283 0.1235 0.0935 0.2735 0.2473 0.2192 0.1683 0.3 0.42 0.24 0.36 0.23 rs16980822 COSM3756419 1(large_intestine) . . . . . . . . . . . 0.464 0.086 T 0.0 0.026 B 0.001 0.040 B 0.417 0.129 N 1 0.090 P -0.46 0.027 N 1.29 0.358 T 0.04 0.065 N 0.022 0.005 -0.908 0.471 T 0.000 0.000 T . . . -1.193 0.025 0.007 0.356 0.022 0.003 0.018 N c -1.514 -1.541 0.000 0.012 0.487 0.133 0 0.441 0.157 -1.222 0.031 -0.902 0.026 0.000 0.063 0.003 0.074 4.571 0.115 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000267056.2|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000171903.12|ENSG00000171903.12 Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis 0.2239 0.4298 0.1407 0.2693 0.0917 0.2633 0.2438 0.2457 0.1671 0.2975 0.4293 0.1683 0.2384 0.0864 0.2595 0.2615 0.2889 het 2819.18 213 19 16060248 . A G 2819.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.931;DP=213;DS;Dels=0.00;FS=0.514;HRun=0;HaplotypeScore=8.9118;MQ=58.41;MQ0=0;MQRankSum=0.771;QD=13.24;ReadPosRankSum=0.891;VQSLOD=4.2718;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,105:213:99:2849,0,3058 19 16060658 16060658 A G exonic OR10H4 nonsynonymous SNV OR10H4:NM_001004465:exon1:c.A841G:p.T281A 0.24 0.46 0.18 0.055 0.26 0.16 0.2306 0.4288 0.1234 0.0935 0.2735 0.2473 0.2192 0.1684 0.3 0.42 0.24 0.36 0.22 rs11880184 COSM4000539 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.004 0.654 D 0.051 0.210 B 0.084 0.277 B 0.018 0.275 U 1 0.090 P 2.12 0.589 M 8.48 0.002 T -4.65 0.794 D 0.061 0.045 -0.928 0.445 T 0.000 0.000 T . . . 1.589 0.253 13.79 0.966 0.299 0.039 0.092 N c -0.633 -0.715 0.000 0.012 0.487 0.133 0 0.988 0.188 1.847 0.387 0.690 0.297 0.053 0.213 0.882 0.370 2.855 0.052 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000267056.2|ENSG00000171903.12|ENSG00000171903.12|ENSG00000267056.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000267453.2|ENSG00000171903.12|ENSG00000171903.12 Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis 0.2238 0.4302 0.1406 0.2680 0.0918 0.2633 0.2437 0.2457 0.1671 0.2972 0.4286 0.1683 0.2318 0.0858 0.2593 0.2617 0.2892 het 4005.46 250 19 16060658 . A G 4005.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.345;DP=250;DS;Dels=0.00;FS=2.173;HRun=0;HaplotypeScore=2.8121;MQ=59.70;MQ0=0;MQRankSum=1.038;QD=16.02;ReadPosRankSum=-0.423;VQSLOD=5.4553;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:124,125:250:99:3397,0,3123 19 16238279 16238279 C T exonic RAB8A synonymous SNV RAB8A:NM_005370:exon5:c.C357T:p.L119L 0.3 0.18 0.38 0.3 0.34 0.37 0.3402 0.2092 0.4173 0.3198 0.3524 0.3433 0.2936 0.3750 0.29 0.22 0.32 0.27 0.31 rs1043308 COSM3756424 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3107 0.1919 0.3631 0.2775 0.2894 0.3375 0.3187 0.2986 0.3028 0.2975 0.2057 0.3978 0.2848 0.2840 0.3488 0.3327 0.3344 het 1017.24 84 19 16238279 . C T 1017.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.125;DP=84;Dels=0.00;FS=0.831;HRun=1;HaplotypeScore=1.9958;MQ=59.28;MQ0=0;MQRankSum=0.187;QD=12.11;ReadPosRankSum=-1.665;VQSLOD=6.3933;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,39:84:99:1047,0,1119 19 16259623 16259623 C T exonic HSH2D synonymous SNV HSH2D:NM_032855:exon4:c.C63T:p.T21T 0.12 0.35 0.069 0.017 0.075 0.019 0.0742 0.3138 0.0393 0.0089 0.0522 0.0693 0.0546 0.0200 0.14 0.3 0.068 0.13 . rs8103852 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0701 0.3236 0.0456 0.0565 0.0089 0.0523 0.0710 0.0704 0.0195 0.1307 0.3126 0.0597 0.0530 0.0136 0.0481 0.0658 0.0809 het 568.29 51 19 16259623 . C T 568.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.915;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1833;MQ=58.40;MQ0=0;MQRankSum=1.596;QD=11.14;ReadPosRankSum=1.771;VQSLOD=3.4657;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:28,23:51:99:598,0,718 19 16275655 16275655 C T exonic CIB3 nonsynonymous SNV CIB3:NM_001300922:exon3:c.G269A:p.G90E,CIB3:NM_054113:exon5:c.G416A:p.G139E 0.77 0.59 0.83 0.96 0.78 0.78 0.7919 0.6227 0.8855 0.9582 0.7874 0.7880 0.7588 0.7650 0.76 0.7 0.79 0.66 0.8 rs6512087 COSM4999418 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 0.998 0.810 P -1.445 0.006 N -0.19 0.659 T 5.16 0.000 N 0.21 0.258 -0.966 0.380 T 0.000 0.000 T . . . 0.861 0.176 9.836 0.237 0.010 0.191 0.203 N c -0.845 -0.609 0.989 0.316 0.554 0.283 0 4.78 0.605 6.046 0.705 0.091 0.195 1.000 0.715 0.620 0.292 9.957 0.406 EF-hand domain|EF-hand domain pair ENSG00000072958.4|ENSG00000127528.5|ENSG00000141977.5 Brain_Cerebellum|Skin_Sun_Exposed_Lower_leg|Testis 0.7979 0.6291 0.8735 0.7560 0.9578 0.7854 0.7899 0.7711 0.7658 0.7544 0.6346 0.8520 0.76 0.9570 0.7772 0.7894 0.7875 het 2623.83 231 19 16275655 . C T 2623.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.526;DP=231;Dels=0.00;FS=6.815;HRun=0;HaplotypeScore=12.2105;MQ=58.73;MQ0=0;MQRankSum=0.578;QD=11.36;ReadPosRankSum=-0.058;VQSLOD=3.1940;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,118:231:99:2654,0,3067 19 16593573 16593573 G A exonic CALR3 synonymous SNV CALR3:NM_145046:exon6:c.C702T:p.D234D 0.14 0.19 0.12 0.099 0.16 0.14 0.1491 0.1862 0.0880 0.0914 0.1797 0.1648 0.1230 0.1248 0.17 0.17 0.17 0.2 0.057 rs10403020 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1407 0.1797 0.0947 0.0790 0.0848 0.1625 0.1645 0.1445 0.1206 0.1632 0.1770 0.1280 0.0695 0.0779 0.1672 0.1682 0.1497 het 320.70 34 19 16593573 . G A 320.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.213;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.76;MQ0=0;MQRankSum=0.992;QD=9.43;ReadPosRankSum=0.886;VQSLOD=6.3935;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,13:34:99:351,0,542 19 16611978 16611978 T C exonic C19orf44 synonymous SNV C19orf44:NM_001288834:exon2:c.T375C:p.A125A,C19orf44:NM_032207:exon2:c.T375C:p.A125A 0.37 0.64 0.34 0.17 0.32 0.25 0.3162 0.6290 0.3473 0.1710 0.3052 0.3014 0.2770 0.2403 0.41 0.61 0.31 0.45 0.25 rs728116 COSM3756426 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3104 0.6300 0.3435 0.2785 0.1661 0.3075 0.3025 0.3052 0.2380 0.3858 0.6166 0.3828 0.2517 0.1675 0.3144 0.3009 0.2939 het 1070.40 96 19 16611978 . T C 1070.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.111;DP=96;Dels=0.00;FS=1.677;HRun=1;HaplotypeScore=0.8941;MQ=59.52;MQ0=0;MQRankSum=0.809;QD=11.15;ReadPosRankSum=1.830;VQSLOD=6.3056;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,45:96:99:1100,0,1493 19 16612011 16612011 T C exonic C19orf44 synonymous SNV C19orf44:NM_001288834:exon2:c.T408C:p.S136S,C19orf44:NM_032207:exon2:c.T408C:p.S136S 0.37 0.64 0.34 0.17 0.32 0.25 0.3168 0.6312 0.3476 0.1710 0.3052 0.3020 0.2770 0.2404 0.41 0.61 0.31 0.45 0.24 rs728117 COSM3756427 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3111 0.6321 0.3445 0.2869 0.1665 0.3077 0.3026 0.3057 0.2381 0.3864 0.6176 0.3828 0.2583 0.1681 0.3144 0.3006 0.2953 het 945.74 74 19 16612011 . T C 945.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.607;DP=74;Dels=0.00;FS=6.226;HRun=1;HaplotypeScore=1.8533;MQ=59.38;MQ0=0;MQRankSum=-0.265;QD=12.78;ReadPosRankSum=-1.822;VQSLOD=4.9426;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,38:74:99:976,0,1047 19 16633950 16633950 T C exonic CHERP synonymous SNV CHERP:NM_006387:exon11:c.A1893G:p.P631P 0.89 1. 0.89 0.72 0.88 0.94 0.8986 0.9852 0.8687 0.7297 0.8820 0.9085 0.8651 0.9340 0.94 0.98 0.92 0.9 0.74 rs1043481 COSM1750704 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8970 0.9858 0.8713 0.8990 0.7288 0.8820 0.9095 0.8939 0.9332 0.9184 0.9834 0.8756 0.8775 0.7071 0.8800 0.9161 0.9107 hom 2706.84 93 19 16633950 . T C 2706.84 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7944;MQ=58.94;MQ0=0;QD=29.11;VQSLOD=7.6145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2740,226,0 19 16860105 16860105 G A exonic NWD1 nonsynonymous SNV NWD1:NM_001347994:exon5:c.G34A:p.A12T,NWD1:NM_001007525:exon6:c.G652A:p.A218T,NWD1:NM_001290355:exon7:c.G247A:p.A83T 0.98 1. 1. 0.93 1. 1. 0.9942 0.9989 0.9998 0.9219 1 1.0000 0.9967 0.9992 1. 1. 1. 0.98 1. rs706764 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.969 0.078 N 1 0.090 P -1.735 0.003 N 1.98 0.219 T 1.51 0.007 N 0.02 0.007 -0.983 0.344 T 0.000 0.000 T . . . -1.309 0.022 0.004 0.130 0.002 0.004 0.018 N c -1.684 -1.594 0.000 0.052 0.487 0.133 0 0.857 0.181 0.724 0.254 -0.219 0.097 0.218 0.243 0.067 0.174 7.379 0.259 . . . 0.9942 0.9988 0.9998 1 0.9213 1 1.0000 0.9978 0.9990 0.9954 0.9992 1 1 0.9158 1 0.9999 1 hom 4216.46 142 19 16860105 . G A 4216.46 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=58.86;MQ0=0;QD=29.69;VQSLOD=8.2012;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:142:99:4216,346,0 19 16860558 16860558 G A exonic NWD1 nonsynonymous SNV NWD1:NM_001347994:exon5:c.G487A:p.V163I,NWD1:NM_001007525:exon6:c.G1105A:p.V369I,NWD1:NM_001290355:exon7:c.G700A:p.V234I 0.066 0.18 0.027 0.0079 0.029 0.039 0.0471 0.1665 0.0196 0.0071 0.0292 0.0389 0.0599 0.0530 0.08 0.16 0.037 0.054 0.033 rs61733271 . . . . . . . . . . . . . 0.414 0.106 T 0.17 0.270 B 0.149 0.325 B 0.000 0.559 N 0.642 0.316 P 1.155 0.297 L -1.05 0.767 T -0.29 0.117 N 0.083 0.077 -1.098 0.044 T 0.001 0.002 T . . . 1.380 0.229 12.69 0.694 0.087 0.309 0.240 N c -0.937 -0.900 0.000 0.058 0.487 0.133 0 1.02 0.190 0.783 0.263 -0.359 0.068 0.490 0.266 0.694 0.308 8.404 0.316 P-loop containing nucleoside triphosphate hydrolase . . 0.0425 0.1643 0.0216 0.0539 0.0068 0.0294 0.0377 0.0417 0.0480 0.0700 0.1646 0.0465 0.0397 0.0074 0.0263 0.0348 0.0550 het 1012.46 72 19 16860558 . G A 1012.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.515;DP=72;Dels=0.00;FS=0.909;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=-0.963;QD=14.06;ReadPosRankSum=0.298;VQSLOD=5.9564;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,36:72:99:1042,0,997 19 16860602 16860602 T C exonic NWD1 synonymous SNV NWD1:NM_001347994:exon5:c.T531C:p.R177R,NWD1:NM_001007525:exon6:c.T1149C:p.R383R,NWD1:NM_001290355:exon7:c.T744C:p.R248R 0.067 0.18 0.027 0.0079 0.029 0.039 0.0471 0.1703 0.0193 0.0067 0.0291 0.0388 0.0565 0.0520 0.081 0.17 0.037 0.065 0.033 rs61731252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0427 0.1669 0.0215 0.0539 0.0066 0.0295 0.0378 0.0418 0.0479 0.0711 0.1683 0.0465 0.0397 0.0074 0.0264 0.0348 0.0551 het 856.91 69 19 16860602 . T C 856.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.276;DP=69;Dels=0.00;FS=1.018;HRun=0;HaplotypeScore=2.9074;MQ=59.30;MQ0=0;MQRankSum=0.540;QD=12.42;ReadPosRankSum=-0.270;VQSLOD=5.9745;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,33:69:99:887,0,991 19 16872940 16872940 G A exonic NWD1 synonymous SNV NWD1:NM_001347994:exon7:c.G1506A:p.L502L,NWD1:NM_001007525:exon8:c.G2124A:p.L708L,NWD1:NM_001290355:exon9:c.G1719A:p.L573L 0.4 0.62 0.27 0.19 0.39 0.42 0.3832 0.5815 0.2315 0.1887 0.3233 0.3981 0.4178 0.4262 0.46 0.57 0.4 0.45 0.37 rs773852 COSM3756430;COSM3756431 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3682 0.5781 0.2360 0.5344 0.1881 0.3180 0.3871 0.3894 0.4204 0.4153 0.5795 0.3086 0.5133 0.1856 0.3088 0.3770 0.3611 het 877.24 64 19 16872940 . G A 877.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.577;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8498;MQ=57.46;MQ0=0;MQRankSum=-1.103;QD=13.71;ReadPosRankSum=0.142;VQSLOD=4.2379;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:28,36:64:99:907,0,743 19 16899838 16899838 A T exonic NWD1 nonsynonymous SNV NWD1:NM_001347994:exon12:c.A2159T:p.N720I,NWD1:NM_001007525:exon13:c.A2777T:p.N926I,NWD1:NM_001290355:exon14:c.A2372T:p.N791I 1. 1. 1. 0.99 1. 1. 0.9996 0.9999 1 0.9954 1 1.0000 0.9989 1 1. 1. 1. 1. 0.95 rs2608737 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.294 N 1.000 0.182 P -3.53 0.000 N 0.41 0.571 T 3.99 0.001 N 0.083 0.130 -0.942 0.423 T 0.000 0.000 T . . . 0.365 0.129 6.305 0.187 0.006 0.053 0.111 N c -1.005 -0.712 0.557 0.214 0.554 0.283 0 5.65 0.868 3.014 0.490 0.117 0.209 1.000 0.715 0.029 0.146 9.108 0.357 Quinoprotein alcohol dehydrogenase-like superfamily|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.9996 0.9999 1 1 0.9946 1 1.0000 0.9995 1 0.9997 0.9999 1 1 0.9957 1 1 1 hom 6447.06 215 19 16899838 . A T 6447.06 Mask AC=2;AF=1.00;AN=2;DP=215;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=59.37;MQ0=0;QD=29.99;VQSLOD=8.3564;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,215:215:99:6446,515,0 19 16926067 16926067 A T exonic NWD1 nonsynonymous SNV NWD1:NM_001347994:exon19:c.A4004T:p.D1335V,NWD1:NM_001290355:exon21:c.A4217T:p.D1406V 0.17 0.056 0.31 0.093 0.25 0.2 0.2242 0.0850 0.3424 0.1052 0.2632 0.2403 0.2013 0.2112 0.19 0.092 0.24 0.12 0.28 rs11671361 . . . . . . . . . . . . . 0.016 0.518 D 0.994 0.647 D 0.865 0.597 P . . . 0.000 0.810 P . . . 0.3 0.588 T -1.1 0.285 N 0.495 0.638 -1.113 0.028 T 0.000 0.000 T . . . 0.738 0.164 9.073 0.979 0.361 0.643 0.321 D c 0.094 -0.039 0.226 0.184 0.487 0.133 0 4.86 0.625 1.939 0.396 1.199 0.960 0.513 0.268 0.022 0.137 12.659 0.560 . . . 0.2307 0.0824 0.3274 0.1927 0.1083 0.2590 0.2439 0.2349 0.2103 0.2051 0.0893 0.3022 0.1821 0.1150 0.2597 0.2620 0.2434 het 942.08 73 19 16926067 . A T 942.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.593;DP=73;Dels=0.00;FS=2.753;HRun=0;HaplotypeScore=1.6630;MQ=58.85;MQ0=0;MQRankSum=0.121;QD=12.91;ReadPosRankSum=-0.374;VQSLOD=6.1950;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,37:73:99:972,0,814 19 16976286 16976286 A G exonic SIN3B synonymous SNV SIN3B:NM_001297597:exon2:c.A219G:p.L73L,SIN3B:NM_001297595:exon11:c.A1449G:p.L483L,SIN3B:NM_015260:exon12:c.A1545G:p.L515L 1. 1. 1. 0.99 1. 1. 0.9997 0.9999 1 0.9957 1 1.0000 1 1 1. 1. 1. 1. 1. rs773911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9999 1 1 0.9952 1.0000 1.0000 0.9996 1 0.9997 0.9999 1 1 0.9957 1 1 1 hom 2791.08 88 19 16976286 . A G 2791.08 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.79;MQ0=0;QD=31.72;VQSLOD=8.1694;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2824,223,0 19 17004049 17004049 T C exonic CPAMD8 nonsynonymous SNV CPAMD8:NM_015692:exon42:c.A5669G:p.Q1890R 0.21 0.096 0.3 0.13 0.33 0.27 0.3688 0.1813 0.3881 0.2013 0.4561 0.4234 0.3645 0.3196 0.27 0.13 0.33 0.15 0.074 rs1054533 COSM3756435 1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 1.43 0.330 T . . . 0.037 0.020 -0.941 0.425 T 0.000 0.000 T . . . -2.452 0.004 0.001 0.232 0.010 0.010 0.038 N c -1.807 -1.983 1.000 0.747 0.646 0.450 0 -1.74 0.076 -1.504 0.024 -2.903 0.002 0.000 0.063 0.000 0.016 6.372 0.206 . ENSG00000160111.8 Cells_Transformed_fibroblasts 0.2968 0.1244 0.2778 0.2843 0.1354 0.3653 0.3446 0.3094 0.2842 0.2681 0.1300 0.2601 0.2748 0.1383 0.3575 0.3391 0.3116 het 106.75 11 19 17004049 . T C 106.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;MQRankSum=0.466;QD=9.70;ReadPosRankSum=-0.717;VQSLOD=6.6264;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:137,0,154 19 17008578 17008578 G C exonic CPAMD8 synonymous SNV CPAMD8:NM_015692:exon39:c.C5130G:p.T1710T 0.56 0.81 0.59 0.3 0.54 0.52 0.5439 0.7567 0.5499 0.3338 0.5303 0.5395 0.5421 0.5480 0.61 0.76 0.53 0.59 0.19 rs2608732 COSM438855 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5143 0.7547 0.5056 0.5570 0.3094 0.5375 0.5042 0.5449 0.5381 0.5876 0.7629 0.5504 0.5960 0.3346 0.5465 0.5285 0.5286 het 89.78 11 19 17008578 . G C 89.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DP=11;Dels=0.00;FS=2.632;HRun=0;HaplotypeScore=0.0000;MQ=57.87;MQ0=0;MQRankSum=0.143;QD=8.16;ReadPosRankSum=-0.143;VQSLOD=4.3102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:120,0,175 19 17025292 17025292 G A exonic CPAMD8 nonsynonymous SNV CPAMD8:NM_015692:exon29:c.C3944T:p.T1315I 0.64 0.84 0.46 0.71 0.58 0.5 0.5629 0.8071 0.3953 0.7044 0.6317 0.5469 0.5590 0.4987 0.63 0.81 0.55 0.59 0.61 rs706761 COSM3756436 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.572 0.367 P 0.285 0.388 B 0.000 0.457 U 0.997 0.228 P 2.105 0.586 M 1.15 0.382 T . . . 0.061 0.117 -1.030 0.203 T 0.000 0.000 T . . . 3.174 0.441 22.7 0.990 0.499 0.716 0.348 D c -0.126 -0.201 0.000 0.048 0.615 0.372 0 1.8 0.240 4.748 0.616 0.784 0.316 1.000 0.715 0.027 0.143 7.718 0.277 Alpha-macroglobulin complement component|Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid . . 0.5558 0.8081 0.4133 0.4618 0.7127 0.6365 0.5490 0.5247 0.4999 0.6404 0.7973 0.4427 0.4567 0.7215 0.6397 0.5581 0.5951 hom 3418.90 115 19 17025292 . G A 3418.90 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6545;MQ=59.80;MQ0=0;QD=29.73;VQSLOD=8.3675;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3418,268,0 19 17088299 17088299 T C exonic CPAMD8 nonsynonymous SNV CPAMD8:NM_015692:exon15:c.A1778G:p.H593R 0.57 0.92 0.4 0.56 0.38 0.41 0.4150 0.8423 0.3700 0.5662 0.3495 0.3505 0.3803 0.4034 0.49 0.79 0.34 0.58 0.34 rs1824152 COSM4998299 1(pancreas) . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B 0.955 0.077 N 1 0.479 P -0.01 0.051 N -0.0 0.626 T . . . 0.008 0.007 -1.061 0.114 T 0.000 0.000 T . . . -4.108 0.000 0.001 0.100 0.001 0.004 0.020 N c -2.171 -2.323 0.008 0.116 0.554 0.246 0 -5.24 0.026 -0.457 0.068 -3.053 0.001 0.001 0.137 0.051 0.165 8.272 0.308 Alpha-2-macroglobulin\x2c N-terminal 2 . . 0.4042 0.8517 0.3714 0.4292 0.5614 0.3483 0.3388 0.3799 0.4027 0.4888 0.8362 0.3849 0.4139 0.5648 0.3320 0.3299 0.3732 het 741.29 72 19 17088299 . T C 741.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.877;DP=72;Dels=0.00;FS=7.237;HRun=0;HaplotypeScore=0.0000;MQ=56.00;MQ0=1;MQRankSum=-0.341;QD=10.30;ReadPosRankSum=0.607;VQSLOD=2.6631;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,32:72:99:771,0,1049 19 17088319 17088319 G T exonic CPAMD8 nonsynonymous SNV CPAMD8:NM_015692:exon15:c.C1758A:p.D586E 0.35 0.5 0.3 0.28 0.29 0.31 0.2936 0.4694 0.2932 0.2673 0.2400 0.2728 0.2747 0.3101 0.32 0.43 0.27 0.32 0.25 rs3745335 COSM3749475 2(large_intestine) . . . . . . . . . . . . . . 0.002 0.090 B 0.023 0.188 B 0.707 0.062 U 1 0.381 P 0.63 0.160 N 1.5 0.312 T . . . 0.004 0.006 -0.965 0.382 T 0.000 0.000 T . . . -1.087 0.029 0.011 0.432 0.032 0.037 0.088 N c -1.481 -1.668 0.036 0.142 0.554 0.246 0 -4.91 0.028 -0.736 0.049 -0.585 0.045 0.068 0.218 0.410 0.256 1.055 0.015 Alpha-2-macroglobulin\x2c N-terminal 2 . . 0.2858 0.4667 0.2909 0.3600 0.2609 0.2403 0.2604 0.2845 0.3055 0.3121 0.4651 0.3079 0.3742 0.2522 0.2250 0.2512 0.2749 het 678.42 55 19 17088319 . G T 678.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.567;DP=55;Dels=0.00;FS=1.225;HRun=1;HaplotypeScore=1.6609;MQ=55.65;MQ0=1;MQRankSum=-0.390;QD=12.33;ReadPosRankSum=-0.043;VQSLOD=2.9883;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,26:55:99:708,0,779 19 17091368 17091368 T G exonic CPAMD8 synonymous SNV CPAMD8:NM_015692:exon14:c.A1665C:p.R555R 0.47 0.65 0.36 0.55 0.35 0.37 0.3693 0.5954 0.3460 0.5530 0.3373 0.3245 0.3412 0.3512 0.4 0.57 0.32 0.33 0.34 rs8103646 COSM3756437 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3624 0.5977 0.3462 0.3676 0.5481 0.3391 0.3159 0.3443 0.3469 0.4072 0.5918 0.3529 0.37 0.5540 0.3235 0.3113 0.3490 hom 3427.55 104 19 17091368 . T G 3427.55 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=59.01;MQ0=0;QD=32.64;VQSLOD=9.1159;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,103:104:99:3427,265,0 19 17100552 17100552 A G exonic CPAMD8 synonymous SNV CPAMD8:NM_015692:exon13:c.T1437C:p.P479P 0.61 0.86 0.5 0.63 0.52 0.41 0.5133 0.8008 0.4369 0.6075 0.5044 0.4968 0.5091 0.4180 0.58 0.79 0.48 0.6 0.43 rs1973093 COSM3756438 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5041 0.8065 0.4464 0.6006 0.6109 0.4879 0.4819 0.5080 0.4181 0.5729 0.8002 0.4809 0.6192 0.6147 0.4759 0.4691 0.4733 het 530.46 44 19 17100552 . A G 530.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.786;DP=44;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=54.64;MQ0=0;MQRankSum=-1.772;QD=12.06;ReadPosRankSum=0.974;VQSLOD=5.0680;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:560,0,607 19 17108135 17108135 C T exonic CPAMD8 nonsynonymous SNV CPAMD8:NM_015692:exon11:c.G1022A:p.R341Q 0.33 0.16 0.35 0.5 0.4 0.29 0.4111 0.2605 0.4360 0.5509 0.4057 0.4370 0.4132 0.3243 0.32 0.2 0.38 0.22 0.33 rs3745340 COSM3756439 1(large_intestine) . . . . . . . . . . . 0.466 0.086 T 0.001 0.067 B 0.0 0.013 B 0.006 0.323 N 1.000 0.194 P -1.43 0.006 N 1.51 0.510 T 0.36 0.037 N 0.011 0.069 -0.913 0.465 T 0.000 0.000 T . . . 2.216 0.328 17.62 0.959 0.276 0.209 0.210 N c -1.128 -1.012 0.161 0.176 0.615 0.372 0 -3.79 0.040 2.398 0.439 -0.376 0.066 0.997 0.399 0.077 0.179 6.629 0.219 . . . 0.3550 0.2017 0.3438 0.4579 0.4988 0.3143 0.3727 0.3688 0.2918 0.3167 0.2074 0.3529 0.4633 0.5025 0.3088 0.3555 0.3439 hom 526.44 18 19 17108135 . C T 526.44 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.64;MQ0=2;QD=29.25;VQSLOD=5.8769;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,17:18:45.14:559,45,0 19 17163661 17163661 C T exonic HAUS8 synonymous SNV HAUS8:NM_001011699:exon10:c.G900A:p.T300T,HAUS8:NM_033417:exon10:c.G903A:p.T301T 0.22 0.28 0.27 0.075 0.27 0.19 0.2428 0.2994 0.2296 0.0666 0.2687 0.2664 0.2489 0.2027 0.29 0.3 0.28 0.23 0.29 rs2305758 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2416 0.2993 0.2300 0.2332 0.0652 0.2612 0.2714 0.2547 0.2026 0.2768 0.3073 0.2566 0.2384 0.0760 0.2576 0.2892 0.2474 het 2564.73 196 19 17163661 . C T 2564.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.962;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5926;MQ=59.57;MQ0=0;MQRankSum=1.708;QD=13.09;ReadPosRankSum=-0.380;VQSLOD=5.4586;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,93:196:99:2595,0,2665 19 17170885 17170885 C T exonic HAUS8 nonsynonymous SNV HAUS8:NM_001011699:exon5:c.G244A:p.G82R,HAUS8:NM_033417:exon5:c.G247A:p.G83R 0.47 0.45 0.52 0.41 0.4 0.6 0.4658 0.4452 0.5870 0.4434 0.4443 0.4263 0.4427 0.5752 0.43 0.44 0.43 0.53 0.37 rs1130222 COSM3756440 1(large_intestine) . . . . . . . . . . . 0.013 0.538 D 0.062 0.218 B 0.005 0.104 B 0.392 0.132 N 1 0.090 P 2.39 0.691 M 1.0 0.414 T -3.29 0.680 D 0.05 0.041 -0.949 0.412 T 0.000 0.000 T . . . 3.689 0.500 23.3 0.996 0.729 0.076 0.135 N c -0.738 -0.804 0.091 0.161 0.707 0.730 0 1.07 0.193 1.295 0.328 -0.019 0.130 0.007 0.175 0.017 0.128 5.928 0.182 . ENSG00000131351.10|ENSG00000131351.10|ENSG00000131351.10|ENSG00000131351.10|ENSG00000131351.10|ENSG00000099331.9|ENSG00000131351.10|ENSG00000131351.10|ENSG00000131351.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Whole_Blood 0.4702 0.4457 0.5793 0.4889 0.4416 0.4548 0.4194 0.4619 0.5699 0.4380 0.4479 0.5647 0.5 0.4302 0.4644 0.4168 0.4671 het 902.58 112 19 17170885 . C T 902.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.147;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9825;MQ=59.28;MQ0=0;MQRankSum=0.287;QD=8.06;ReadPosRankSum=-0.098;VQSLOD=5.9999;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,39:112:99:933,0,1961 19 17212992 17212992 C T exonic MYO9B synonymous SNV MYO9B:NM_001130065:exon2:c.C465T:p.P155P,MYO9B:NM_004145:exon2:c.C465T:p.P155P 0.085 0.022 0.13 0.013 0.18 0.11 0.1411 0.0581 0.1138 0.0198 0.1675 0.1783 0.1446 0.1119 0.14 0.058 0.18 0.043 . rs3745349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1410 0.0553 0.1137 0.0986 0.0197 0.1610 0.1867 0.1437 0.1137 0.1379 0.0607 0.1172 0.1258 0.0198 0.1534 0.1926 0.1520 het 2563.46 173 19 17212992 . C T 2563.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.190;DP=173;Dels=0.00;FS=2.167;HRun=0;HaplotypeScore=4.0293;MQ=59.89;MQ0=0;MQRankSum=0.652;QD=14.82;ReadPosRankSum=0.686;VQSLOD=5.7309;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,88:173:99:2593,0,2425 19 17305440 17305440 T C exonic MYO9B synonymous SNV MYO9B:NM_001130065:exon22:c.T3204C:p.G1068G,MYO9B:NM_004145:exon22:c.T3204C:p.G1068G 0.64 0.79 0.7 0.74 0.39 0.57 0.5089 0.7391 0.7627 0.7739 0.4327 0.3949 0.5261 0.5393 0.51 0.73 0.4 0.71 . rs1064305 COSM3756443;COSM3756442 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5102 0.7459 0.7339 0.3313 0.7715 0.4265 0.3972 0.4891 0.5324 0.5227 0.7471 0.7117 0.3624 0.7958 0.4195 0.3850 0.4356 het 455.57 39 19 17305440 . T C 455.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.138;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.784;QD=11.68;ReadPosRankSum=-0.070;VQSLOD=11.2389;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,20:39:99:486,0,442 19 17306031 17306031 T C exonic MYO9B synonymous SNV MYO9B:NM_001130065:exon22:c.T3795C:p.P1265P,MYO9B:NM_004145:exon22:c.T3795C:p.P1265P 0.76 0.97 0.8 0.74 0.57 0.66 0.6576 0.9224 0.8260 0.7769 0.6179 0.5824 0.6580 0.6395 0.69 0.92 0.59 0.76 . rs2279003 COSM4131371;COSM4131372 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6543 0.9284 0.8071 0.4858 0.7741 0.6090 0.5823 0.6353 0.6339 0.6981 0.9199 0.8110 0.5168 0.7979 0.6002 0.5825 0.6291 het 250.69 33 19 17306031 . T C 250.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.265;DP=33;Dels=0.00;FS=1.574;HRun=4;HaplotypeScore=0.8941;MQ=58.48;MQ0=0;MQRankSum=-0.292;QD=7.60;ReadPosRankSum=0.292;VQSLOD=4.6007;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,12:33:99:281,0,559 19 17312992 17312992 C T exonic MYO9B synonymous SNV MYO9B:NM_001130065:exon28:c.C4716T:p.V1572V,MYO9B:NM_004145:exon28:c.C4716T:p.V1572V 0.6 0.6 0.67 0.75 0.39 0.62 0.5004 0.5713 0.7475 0.7769 0.4497 0.3984 0.5101 0.5720 0.44 0.54 0.4 0.67 . rs2305765 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5035 0.5717 0.7180 0.3345 0.7739 0.4397 0.3995 0.4804 0.5656 0.4782 0.5728 0.6878 0.3377 0.7948 0.4355 0.3923 0.4417 het 1125 74 19 17312992 . C T 1125 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.956;DP=74;Dels=0.00;FS=6.335;HRun=1;HaplotypeScore=4.8881;MQ=59.44;MQ0=0;MQRankSum=-0.226;QD=15.20;ReadPosRankSum=-1.162;VQSLOD=4.5959;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,44:74:99:1155,0,666 19 17316782 17316782 T C exonic MYO9B nonsynonymous SNV MYO9B:NM_001130065:exon32:c.T5078C:p.V1693A,MYO9B:NM_004145:exon32:c.T5078C:p.V1693A 0.63 0.71 0.68 0.75 0.39 0.62 0.5198 0.6805 0.7565 0.7788 0.4525 0.4047 0.5366 0.6192 0.48 0.65 0.4 0.61 . rs7248508 COSM438878;COSM438877 2(thyroid) . . . . . . . . . . . 0.997 0.019 T 0.0 0.026 B 0.0 0.013 B 0.011 0.295 N 1 0.090 P -1.52 0.005 N -1.85 0.843 D 0.3 0.041 N 0.029 0.032 -0.953 0.406 T 0.000 0.000 T . . . -0.525 0.054 0.191 0.392 0.027 0.003 0.018 N c -1.326 -1.184 0.662 0.223 0.672 0.522 0 4.74 0.596 1.236 0.321 0.069 0.176 0.001 0.137 0.005 0.090 10.878 0.459 . ENSG00000053501.8 Lung 0.5292 0.6852 0.7289 0.3527 0.7748 0.4573 0.4082 0.4936 0.5969 0.5114 0.6857 0.6981 0.3411 0.7957 0.4352 0.3936 0.4516 het 529.84 34 19 17316782 . T C 529.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.049;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8188;MQ=58.63;MQ0=0;MQRankSum=0.824;QD=15.58;ReadPosRankSum=-1.289;VQSLOD=5.7105;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,21:34:99:560,0,252 19 17317955 17317955 A G exonic MYO9B synonymous SNV MYO9B:NM_001130065:exon35:c.A5526G:p.S1842S,MYO9B:NM_004145:exon35:c.A5526G:p.S1842S 0.63 0.71 0.68 0.75 0.39 0.62 0.5093 0.6682 0.7503 0.7706 0.4467 0.3957 0.5237 0.5814 0.48 0.65 0.39 0.7 . rs8110964 COSM438881;COSM438882 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5078 0.6720 0.7221 0.3344 0.7725 0.4319 0.3927 0.4849 0.5724 0.5111 0.6847 0.6974 0.3377 0.7965 0.4363 0.3936 0.4499 het 211.84 25 19 17317955 . A G 211.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.043;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.579;QD=8.47;ReadPosRankSum=-0.174;VQSLOD=6.4009;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,11:25:99:242,0,357 19 17330060 17330060 T C exonic USE1 nonsynonymous SNV USE1:NM_018467:exon7:c.T461C:p.L154S 0.98 1. 0.99 0.93 1. 1. 0.9916 0.9997 0.9754 0.9246 0.9995 0.9992 0.9978 0.9988 1. 1. 1. 0.96 . rs414528 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.810 P -2.705 0.000 N 1.18 0.377 T 2.38 0.003 N 0.201 0.246 -0.962 0.389 T 0.000 0.000 T . . . 1.539 0.247 13.52 0.284 0.015 0.132 0.175 N c -0.859 -0.561 0.998 0.357 0.707 0.730 0 4.73 0.593 4.861 0.624 0.069 0.176 1.000 0.715 0.790 0.333 12.204 0.535 . . . 0.9908 0.9993 0.9750 0.9946 0.9281 0.9997 0.9995 0.9947 0.9987 0.9958 0.9990 0.9666 0.9967 0.95 0.9994 0.9996 0.9969 hom 1676.03 59 19 17330060 . T C 1676.03 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.46;MQ0=0;QD=28.41;VQSLOD=8.4951;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1709,144,0 19 17337555 17337555 C A exonic OCEL1 synonymous SNV OCEL1:NM_024578:exon2:c.C123A:p.T41T 0.23 0.17 0.25 0.4 0.2 0.14 0.2959 0.2580 0.3020 0.4670 0.3644 0.2840 0.3009 0.2215 0.18 0.16 0.19 0.17 0.016 rs3745163 COSM3749477 10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2259 0.1877 0.2438 0.1377 0.4168 0.2512 0.2222 0.2160 0.1525 0.2277 0.1790 0.2398 0.1933 0.3894 0.2453 0.2334 0.2469 het 200.60 16 19 17337555 . C A 200.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.549;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.488;QD=12.54;ReadPosRankSum=0.271;VQSLOD=11.0609;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,10:16:99:231,0,188 19 17361064 17361064 C T exonic USHBP1 synonymous SNV USHBP1:NM_001297703:exon12:c.G1890A:p.P630P,USHBP1:NM_001321417:exon13:c.G2082A:p.P694P,USHBP1:NM_031941:exon13:c.G2082A:p.P694P 0.12 0.19 0.099 0.002 0.18 0.13 0.1886 0.2286 0.0927 0.0012 0.2676 0.2163 0.1742 0.1711 0.2 0.21 0.19 0.11 0.12 rs10415471 COSM3756448 2(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1627 0.2061 0.0815 0.1589 0.0008 0.2453 0.1930 0.1547 0.1565 0.1955 0.2010 0.0907 0.2 0.0012 0.2348 0.2101 0.1939 het 454.47 40 19 17361064 . C T 454.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.575;DP=40;Dels=0.00;FS=2.301;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;MQRankSum=-0.747;QD=11.36;ReadPosRankSum=1.661;VQSLOD=5.3550;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,20:40:99:484,0,455 19 17366278 17366278 T C exonic USHBP1 synonymous SNV USHBP1:NM_001297703:exon9:c.A1416G:p.A472A,USHBP1:NM_001321417:exon10:c.A1608G:p.A536A,USHBP1:NM_031941:exon10:c.A1608G:p.A536A 0.78 0.98 0.77 0.8 0.58 0.7 0.6741 0.9271 0.7718 0.8200 0.6172 0.5986 0.6586 0.6990 0.71 0.92 0.6 0.83 0.58 rs4430871 COSM4131384 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6716 0.9336 0.7512 0.5787 0.8237 0.6259 0.5994 0.6485 0.6981 0.7067 0.9246 0.7458 0.6026 0.8461 0.6114 0.5928 0.6171 het 1816.50 146 19 17366278 . T C 1816.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.850;DP=146;Dels=0.00;FS=11.433;HRun=1;HaplotypeScore=6.6440;MQ=58.75;MQ0=0;MQRankSum=-0.500;QD=12.44;ReadPosRankSum=0.413;VQSLOD=3.5042;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,73:146:99:1846,0,2005 19 17389704 17389704 G A exonic BABAM1 synonymous SNV BABAM1:NM_001288757:exon6:c.G612A:p.K204K,BABAM1:NM_001033549:exon9:c.G837A:p.K279K,BABAM1:NM_001288756:exon9:c.G837A:p.K279K,BABAM1:NM_014173:exon9:c.G837A:p.K279K 0.11 0.19 0.095 0.001 0.16 0.088 0.1568 0.2029 0.0781 0.0007 0.2408 0.1848 0.1588 0.1202 0.18 0.18 0.18 0.098 . rs8170 COSM438891;COSM438892 1(large_intestine) . . . . . Ovarian cancer 1.12 . 20852633 rs8170 4E-6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1497 0.1922 0.0789 0.1606 0.0006 0.2390 0.1792 0.1526 0.1143 0.1859 0.1927 0.0859 0.2119 0.0012 0.2325 0.1963 0.1827 het 450.21 42 19 17389704 . G A 450.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.509;DP=42;Dels=0.00;FS=4.457;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.143;QD=10.72;ReadPosRankSum=-0.722;VQSLOD=5.6799;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,19:42:99:480,0,610 19 17394504 17394504 A C exonic ANKLE1 nonsynonymous SNV ANKLE1:NM_001278443:exon5:c.A1060C:p.T354P,ANKLE1:NM_001278444:exon5:c.A1093C:p.T365P,ANKLE1:NM_001278445:exon5:c.A997C:p.T333P,ANKLE1:NM_152363:exon5:c.A1093C:p.T365P 0.64 0.8 0.55 0.31 0.83 0.6 0.7211 0.7909 0.5046 0.3124 0.8798 0.8087 0.7450 0.6242 0.8 0.79 0.81 0.63 . rs891017 COSM4000551;COSM4000549;COSM4000550 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.001 0.007 N 1 0.090 P -1.15 0.009 N . . . . . . 0.084 0.465 -0.972 0.367 T 0.000 0.000 T . . . -0.449 0.058 0.293 0.688 0.085 0.001 0.008 N c -1.515 -1.504 0.917 0.265 0.696 0.567 0 0.314 0.150 -0.098 0.109 -0.054 0.122 0.000 0.063 0.003 0.074 5.659 0.168 LEM domain|LEM/LEM-like domain ENSG00000130312.2|ENSG00000130312.2 Muscle_Skeletal|Testis 0.7151 0.7944 0.5279 0.7884 0.3146 0.8794 0.8064 0.7411 0.6265 0.7912 0.7954 0.5680 0.8245 0.3402 0.8756 0.8296 0.7848 hom 5361.96 176 19 17394504 . A C 5361.96 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.712;DP=176;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.0972;MQ=58.81;MQ0=0;MQRankSum=0.901;QD=30.47;ReadPosRankSum=1.257;VQSLOD=8.3989;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,175:176:99:5361,418,0 19 17395003 17395003 A G exonic ANKLE1 nonsynonymous SNV ANKLE1:NM_001278443:exon6:c.A1355G:p.Q452R,ANKLE1:NM_001278444:exon6:c.A1388G:p.Q463R,ANKLE1:NM_001278445:exon6:c.A1292G:p.Q431R,ANKLE1:NM_152363:exon6:c.A1466G:p.Q489R 0.64 0.8 0.55 0.31 0.83 0.6 0.7206 0.7911 0.5036 0.3108 0.8796 0.8084 0.7456 0.6239 0.8 0.79 0.81 0.33 . rs11086065 COSM4000553;COSM4000552 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . 0.0 0.112 B 0.002 0.063 B 0.636 0.106 N 1.000 0.289 P 0.475 0.132 N . . . . . . 0.252 0.308 -0.963 0.387 T 0.000 0.000 T . . . -2.006 0.008 0.001 0.310 0.017 0.044 0.099 N c -2.180 -2.194 1.000 0.402 0.713 0.817 0 -7.51 0.012 -0.065 0.115 -1.406 0.012 0.299 0.251 0.017 0.128 16.297 0.825 GIY-YIG nuclease superfamily ENSG00000130312.2|ENSG00000130312.2 Muscle_Skeletal|Testis 0.7149 0.7945 0.5271 0.7881 0.3142 0.8793 0.8063 0.7412 0.6264 0.7908 0.7954 0.5680 0.8233 0.3398 0.8756 0.8289 0.7878 hom 971.34 33 19 17395003 . A G 971.34 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.48;MQ0=0;QD=29.43;VQSLOD=8.6802;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:81.24:1004,81,0 19 17395055 17395055 C G exonic ANKLE1 synonymous SNV ANKLE1:NM_001278443:exon6:c.C1407G:p.T469T,ANKLE1:NM_001278444:exon6:c.C1440G:p.T480T,ANKLE1:NM_001278445:exon6:c.C1344G:p.T448T,ANKLE1:NM_152363:exon6:c.C1518G:p.T506T 0.64 0.8 0.55 0.31 0.83 0.6 0.7208 0.7917 0.5040 0.3120 0.8795 0.8084 0.7445 0.6242 0.8 0.79 0.81 0.48 . rs11882562 COSM4131399;COSM4131398 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7150 0.7946 0.5274 0.7883 0.3144 0.8793 0.8064 0.7412 0.6265 0.7910 0.7954 0.5680 0.8221 0.3418 0.8756 0.8289 0.7867 hom 807.48 30 19 17395055 . C G 807.48 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=26.92;VQSLOD=7.7163;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:66.20:840,66,0 19 17396549 17396549 T C exonic ANKLE1 synonymous SNV ANKLE1:NM_001278443:exon8:c.T1647C:p.G549G,ANKLE1:NM_001278445:exon8:c.T1584C:p.G528G,ANKLE1:NM_152363:exon8:c.T1758C:p.G586G 0.64 0.8 0.55 0.31 0.83 0.6 0.7214 0.7912 0.5048 0.3114 0.8794 0.8088 0.7456 0.6246 0.8 0.79 0.81 0.63 . rs751599 COSM4131400;COSM4131401 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7152 0.7945 0.5276 0.7882 0.3143 0.8794 0.8065 0.7411 0.6266 0.7914 0.7960 0.5680 0.8245 0.3420 0.8757 0.8300 0.7857 hom 1053.65 34 19 17396549 . T C 1053.65 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.99;VQSLOD=13.7515;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:90.26:1087,90,0 19 17397244 17397244 C T exonic ANKLE1 nonsynonymous SNV ANKLE1:NM_001278444:exon8:c.C1676T:p.A559V 0.099 0.14 0.091 0.001 0.16 0.089 0.1523 0.1484 0.0762 0.0007 0.2368 0.1849 0.1513 0.1236 0.17 0.15 0.18 0.087 . rs10425939 COSM3756458;COSM3756457 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1473 0.1450 0.0794 0.1583 0.0006 0.2396 0.1808 0.1512 0.1156 0.1711 0.1407 0.0861 0.2086 0.0012 0.2331 0.1961 0.1802 het 627.13 61 19 17397244 . C T 627.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.281;DP=61;Dels=0.00;FS=0.986;HRun=1;HaplotypeScore=1.9125;MQ=59.62;MQ0=0;MQRankSum=-0.962;QD=10.28;ReadPosRankSum=1.512;VQSLOD=5.7102;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:657,0,776 19 17435884 17435884 T C exonic ANO8 synonymous SNV ANO8:NM_020959:exon17:c.A2973G:p.S991S 0.62 0.86 0.49 0.29 0.72 0.62 0.6636 0.8438 0.4666 0.2616 0.8151 0.7159 0.6832 0.6266 0.75 0.84 0.71 0.62 0.73 rs755123 COSM4000554 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6550 0.8487 0.4857 0.6658 0.2635 0.8122 0.7151 0.6614 0.6274 0.7467 0.8559 0.5084 0.7086 0.2964 0.8184 0.7309 0.7157 het 2785.18 229 19 17435884 . T C 2785.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.391;DP=229;Dels=0.00;FS=1.609;HRun=4;HaplotypeScore=8.8530;MQ=58.49;MQ0=0;MQRankSum=0.968;QD=12.16;ReadPosRankSum=-0.379;VQSLOD=3.8664;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,109:229:99:2815,0,3263 19 17438642 17438642 A G exonic ANO8 synonymous SNV ANO8:NM_020959:exon14:c.T2274C:p.V758V 0.62 0.87 0.49 0.29 0.72 0.62 0.6647 0.8557 0.4677 0.2611 0.8155 0.7154 0.6839 0.6270 0.76 0.85 0.71 0.65 0.66 rs8102944 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6559 0.8601 0.4864 0.6650 0.2637 0.8125 0.7151 0.6622 0.6272 0.7506 0.8695 0.5108 0.7086 0.2995 0.8187 0.7308 0.7137 het 1407 135 19 17438642 . A G 1407 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.599;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8910;MQ=59.21;MQ0=0;MQRankSum=-1.008;QD=10.42;ReadPosRankSum=-0.589;VQSLOD=6.0842;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,63:135:99:1437,0,1894 19 17448961 17448961 A C exonic GTPBP3 synonymous SNV GTPBP3:NM_001128855:exon2:c.A198C:p.T66T,GTPBP3:NM_001195422:exon2:c.A264C:p.T88T,GTPBP3:NM_032620:exon2:c.A198C:p.T66T,GTPBP3:NM_133644:exon2:c.A198C:p.T66T 0.62 0.87 0.49 0.3 0.72 0.63 0.6631 0.8531 0.4755 0.2770 0.8155 0.7139 0.6894 0.6277 0.76 0.85 0.71 0.66 0.56 rs1864112 COSM5826039;COSM1750716 2(urinary_tract);1(thyroid);12(large_intestine) Benign not_specified RCV000442852.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6404 0.8569 0.4819 0.6600 0.2617 0.8076 0.7090 0.6525 0.6223 0.7493 0.8683 0.5095 0.7086 0.3048 0.8182 0.7283 0.7134 het 163.30 15 19 17448961 . A C 163.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.562;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=2.025;QD=10.89;ReadPosRankSum=0.752;VQSLOD=10.3157;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,7:15:99:193,0,195 19 17450016 17450016 T C exonic GTPBP3 nonsynonymous SNV GTPBP3:NM_133644:exon5:c.T845C:p.V282A,GTPBP3:NM_001128855:exon6:c.T749C:p.V250A,GTPBP3:NM_001195422:exon6:c.T815C:p.V272A,GTPBP3:NM_032620:exon6:c.T749C:p.V250A 0.62 0.87 0.49 0.29 0.72 0.63 0.6645 0.8576 0.4680 0.2617 0.8154 0.7160 0.6830 0.6241 0.76 0.85 0.71 0.63 0.72 rs3810206 COSM5000037;COSM5000036 1(pancreas);1(skin) Benign not_specified RCV000436556.1 MedGen CN169374 . . . . . . 0.492 0.084 T 0.006 0.144 B 0.02 0.201 B 0.000 0.497 N 0.666 0.304 P 1.565 0.397 L 1.54 0.301 T -2.45 0.535 N 0.062 0.047 -1.045 0.157 T 0.000 0.000 T . . . 0.935 0.183 10.29 0.755 0.107 0.222 0.215 N c -0.717 -0.600 1.000 0.747 0.742 0.980 0 3.76 0.422 1.963 0.398 -0.061 0.121 0.970 0.340 0.048 0.163 6.120 0.192 GTP binding domain|MnmE\x2c helical domain|P-loop containing nucleoside triphosphate hydrolase|Small GTP-binding protein domain|TrmE-type guanine nucleotide-binding domain;GTP binding domain|MnmE\x2c helical domain|P-loop containing nucleoside triphosphate hydrolase|Small GTP-binding protein domain|TrmE-type guanine nucleotide-binding domain|tRNA modification GTPase MnmE domain 2;MnmE\x2c helical domain|P-loop containing nucleoside triphosphate hydrolase|Small GTP-binding protein domain|TrmE-type guanine nucleotide-binding domain ENSG00000130312.2|ENSG00000130312.2|ENSG00000130312.2|ENSG00000130312.2|ENSG00000130312.2|ENSG00000130312.2|ENSG00000130312.2|ENSG00000130312.2 Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.6536 0.8598 0.4845 0.6668 0.2635 0.8125 0.7133 0.6609 0.6240 0.7495 0.8693 0.5095 0.7133 0.3017 0.8183 0.7284 0.7147 het 419.64 44 19 17450016 . T C 419.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.933;DP=44;Dels=0.00;FS=4.201;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=-0.498;QD=9.54;ReadPosRankSum=-0.829;VQSLOD=5.6188;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,19:44:99:450,0,680 19 17628587 17628587 A G exonic PGLS synonymous SNV PGLS:NM_012088:exon4:c.A567G:p.T189T 0.6 0.82 0.64 0.46 0.56 0.47 0.5530 0.7810 0.6751 0.4588 0.5717 0.5310 0.5518 0.4547 0.62 0.78 0.54 0.64 0.57 rs6743 COSM4131411 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5566 0.7837 0.6734 0.5187 0.4600 0.5782 0.5327 0.5591 0.4535 0.6077 0.7779 0.6575 0.5828 0.4393 0.5794 0.5355 0.5371 het 1851.39 153 19 17628587 . A G 1851.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.004;DP=153;Dels=0.00;FS=2.018;HRun=0;HaplotypeScore=4.3471;MQ=59.21;MQ0=1;MQRankSum=0.271;QD=12.10;ReadPosRankSum=0.341;VQSLOD=6.0560;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,78:153:99:1881,0,2010 19 17641667 17641667 G A exonic FAM129C synonymous SNV FAM129C:NM_001321826:exon2:c.G159A:p.P53P,FAM129C:NM_001321827:exon2:c.G159A:p.P53P,FAM129C:NM_001098524:exon3:c.G252A:p.P84P,FAM129C:NM_173544:exon3:c.G252A:p.P84P 0.058 0.079 0.04 0.03 0.038 0.094 0.0504 0.0748 0.0218 0.0240 0.0482 0.0495 0.0469 0.0733 0.058 0.074 0.049 0.022 0.066 rs74336438 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0482 0.0724 0.0228 0.0495 0.0251 0.0471 0.0494 0.0477 0.0731 0.0547 0.0735 0.0346 0.0331 0.0222 0.0446 0.0510 0.0562 het 545.68 61 19 17641667 . G A 545.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.275;DP=61;Dels=0.00;FS=2.250;HRun=1;HaplotypeScore=2.8797;MQ=59.39;MQ0=0;MQRankSum=1.020;QD=8.95;ReadPosRankSum=0.525;VQSLOD=5.4842;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,25:61:99:576,0,936 19 17651370 17651370 A G exonic FAM129C synonymous SNV FAM129C:NM_001321828:exon8:c.A420G:p.S140S,FAM129C:NM_001321826:exon9:c.A1149G:p.S383S,FAM129C:NM_001321827:exon9:c.A1149G:p.S383S,FAM129C:NM_001098524:exon10:c.A1242G:p.S414S,FAM129C:NM_173544:exon10:c.A1242G:p.S414S 0.83 0.97 0.9 0.57 0.89 0.79 0.8547 0.9600 0.8769 0.5753 0.8421 0.8836 0.8665 0.8136 0.91 0.96 0.89 0.74 0.67 rs11878663 COSM3756466;COSM5828819;COSM1480754;COSM438911 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8463 0.9607 0.8779 0.9435 0.5384 0.8352 0.8760 0.8669 0.8039 0.8718 0.9599 0.8711 0.9570 0.5667 0.8315 0.8630 0.8456 hom 589.65 18 19 17651370 . A G 589.65 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.76;VQSLOD=14.2289;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:54.14:623,54,0 19 17654182 17654182 G A exonic FAM129C synonymous SNV FAM129C:NM_001321828:exon10:c.G657A:p.T219T,FAM129C:NM_001321826:exon11:c.G1386A:p.T462T,FAM129C:NM_001321827:exon11:c.G1386A:p.T462T,FAM129C:NM_001098524:exon12:c.G1479A:p.T493T,FAM129C:NM_173544:exon12:c.G1479A:p.T493T 0.062 0.089 0.043 0.032 0.042 0.09 0.0526 0.0729 0.0216 0.0246 0.0466 0.0512 0.0526 0.0915 0.059 0.071 0.052 0.043 0.066 rs76814516 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0493 0.0712 0.0221 0.0499 0.0261 0.0471 0.0507 0.0480 0.0780 0.0529 0.0680 0.0382 0.0331 0.0222 0.0430 0.0510 0.0540 het 1876.36 131 19 17654182 . G A 1876.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.375;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3173;MQ=59.40;MQ0=0;MQRankSum=-1.039;QD=14.32;ReadPosRankSum=-0.288;VQSLOD=4.7889;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,68:131:99:1906,0,1740 19 17660300 17660300 G A exonic FAM129C nonsynonymous SNV FAM129C:NM_001321828:exon13:c.G985A:p.G329S,FAM129C:NM_001321826:exon14:c.G1714A:p.G572S,FAM129C:NM_001321827:exon14:c.G1714A:p.G572S,FAM129C:NM_001098524:exon15:c.G1807A:p.G603S,FAM129C:NM_173544:exon15:c.G1807A:p.G603S 0.4 0.34 0.38 0.37 0.55 0.38 0.4849 0.3601 0.3307 0.3512 0.5472 0.5573 0.5055 0.4225 0.5 0.38 0.56 0.35 0.56 rs11666267 COSM3756467;COSM148530;COSM3756468 1(bone);1(stomach);2(haematopoietic_and_lymphoid_tissue);6(prostate);3(large_intestine) . . . . . . . . . . . 0.044 0.410 D 0.708 0.401 P 0.138 0.318 B 0.486 0.121 N 1 0.090 P 1.445 0.365 L 2.23 0.243 T -0.17 0.096 N 0.04 0.061 -0.954 0.404 T 0.000 0.000 T . . . 0.906 0.180 10.11 0.573 0.056 0.093 0.149 N c -0.776 -0.906 0.084 0.160 0.706 0.609 0 1.68 0.231 1.526 0.353 1.044 0.665 0.026 0.200 0.002 0.062 5.607 0.165 . ENSG00000130309.6|ENSG00000130309.6 Cells_Transformed_fibroblasts|Whole_Blood 0.4848 0.3567 0.3541 0.6010 0.3501 0.5436 0.5569 0.5098 0.4209 0.4829 0.3730 0.3878 0.6623 0.3648 0.5450 0.5470 0.4796 het 3048.65 224 19 17660300 . G A 3048.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.245;DP=224;Dels=0.00;FS=1.637;HRun=0;HaplotypeScore=4.5690;MQ=59.30;MQ0=0;MQRankSum=-0.201;QD=13.61;ReadPosRankSum=-0.600;VQSLOD=5.8057;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:108,116:224:99:3079,0,2663 19 17662616 17662616 G A exonic FAM129C nonsynonymous SNV FAM129C:NM_001321827:exon15:c.G1772A:p.R591Q,FAM129C:NM_001098524:exon16:c.G1865A:p.R622Q 0.061 0.088 0.042 0.032 0.042 0.09 0.0531 0.0736 0.0221 0.0254 0.0499 0.0525 0.0507 0.0813 0.058 0.069 0.053 0.043 . rs76629753 COSM3773846 1(kidney) . . . . . . . . . . . 0.084 0.329 T 0.658 0.455 P 0.107 0.326 B . . . 1 0.090 N . . . 2.14 0.263 T -0.38 0.134 N 0.022 0.013 -1.034 0.191 T 0.002 0.007 T . . . 0.106 0.104 3.677 0.775 0.115 0.013 0.044 N c -0.826 -0.982 0.341 0.196 0.706 0.609 0 0.649 0.169 0.878 0.276 0.497 0.279 0.021 0.196 0.018 0.130 . . . . . 0.0497 0.0714 0.0220 0.0497 0.0259 0.0476 0.0513 0.0473 0.0784 0.0536 0.0686 0.0394 0.0331 0.0222 0.0435 0.0519 0.0540 het 812.34 42 19 17662616 . G A 812.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.962;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;MQRankSum=0.947;QD=19.34;ReadPosRankSum=0.494;VQSLOD=6.3191;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,28:42:99:842,0,313 19 17716896 17716896 G T exonic UNC13A synonymous SNV UNC13A:NM_001080421:exon42:c.C5079A:p.S1693S 0.095 0.22 0.055 0.018 0.098 0.035 0.1314 0.2824 0.0890 0.0062 0.2024 0.1467 0.1338 0.0763 0.11 0.17 0.08 0.022 . rs3746198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0811 0.1989 0.0568 0.0943 0.0028 0.0986 0.0906 0.1020 0.0587 0.1200 0.1983 0.0639 0.1192 0.0012 0.1012 0.0970 0.0883 het 193.52 18 19 17716896 . G T 193.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.088;DP=18;Dels=0.00;FS=9.874;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=1.111;QD=10.75;ReadPosRankSum=-0.489;VQSLOD=3.9795;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,10:18:99:224,0,179 19 17746947 17746947 A G exonic UNC13A nonsynonymous SNV UNC13A:NM_001080421:exon25:c.T3101C:p.L1034P 1. 1. 1. 1. 1. 1. 0.9997 0.9999 0.9998 0.9972 1 0.9999 0.9986 0.9998 . . . 1. . rs4239634 COSM4591784;COSM4591783;COSM4591782 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.000 0.491 N 0.000 0.479 P -2.135 0.001 N -1.29 0.795 T 6.31 0.000 N 0.174 0.211 -0.952 0.406 T 0.000 0.000 T . . . 1.907 0.290 15.63 0.265 0.013 0.125 0.171 N c -0.601 -0.412 0.201 0.181 0.707 0.730 0 3.52 0.393 7.937 0.870 0.104 0.200 1.000 0.715 0.331 0.243 8.813 0.340 Calcium-dependent secretion activator . . 0.9997 0.9999 0.9999 1 0.9971 1 1.0000 0.9994 0.9998 0.9997 0.9999 1 1 0.9951 1 1 1 hom 483.93 15 19 17746947 . A G 483.93 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57.47;MQ0=0;QD=32.26;VQSLOD=8.2061;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:517,39,0 19 17759289 17759289 G C exonic UNC13A synonymous SNV UNC13A:NM_001080421:exon15:c.C1767G:p.V589V 0.089 0.22 0.059 . 0.096 0.018 0.0906 0.2071 0.0586 0.0001 0.1632 0.0984 0.0954 0.0273 0.12 0.18 0.088 0.065 . rs73922174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0813 0.1902 0.0525 0.0921 0 0.1423 0.0907 0.0877 0.0253 0.1163 0.1944 0.0598 0.0933 0 0.1319 0.0860 0.0774 het 746.61 49 19 17759289 . G C 746.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.626;DP=49;Dels=0.00;FS=1.248;HRun=0;HaplotypeScore=1.8660;MQ=60.00;MQ0=0;MQRankSum=-0.051;QD=15.24;ReadPosRankSum=0.758;VQSLOD=6.1010;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,28:49:99:777,0,611 19 17777508 17777508 C G exonic UNC13A synonymous SNV UNC13A:NM_001080421:exon7:c.G474C:p.S158S 0.75 0.88 0.66 0.51 0.87 0.78 0.8013 0.8650 0.5115 0.4817 0.9003 0.8712 0.8302 0.8129 0.87 0.86 0.87 0.87 . rs9305092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7896 0.8588 0.4982 0.8983 0.4637 0.8999 0.8636 0.8221 0.8017 0.8517 0.8690 0.6134 0.9106 0.5056 0.9073 0.8785 0.8432 hom 1343.41 41 19 17777508 . C G 1343.41 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.213;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8835;MQ=59.44;MQ0=0;MQRankSum=-1.299;QD=32.77;ReadPosRankSum=-0.953;VQSLOD=8.9706;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,39:41:80.05:1376,80,0 19 17836943 17836943 C T exonic MAP1S synonymous SNV MAP1S:NM_001308363:exon5:c.C672T:p.L224L,MAP1S:NM_018174:exon5:c.C750T:p.L250L 0.004 0.0008 0.0029 0.003 0.011 0.0031 0.0066 0.0025 0.0024 0.0011 0.0077 0.0094 0.0110 0.0030 0.0063 0.0023 0.0084 . 0.016 rs115609579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0062 0.0017 0.0027 0.0001 0.0014 0.0087 0.0096 0.0055 0.0027 0.0049 0.0013 0.0012 0 0.0012 0.0086 0.0071 0.0020 het 263.47 20 19 17836943 . C T 263.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.474;DP=20;Dels=0.00;FS=1.829;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.021;QD=13.17;ReadPosRankSum=0.567;VQSLOD=5.6088;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:293,0,280 19 17885270 17885270 A G exonic FCHO1 synonymous SNV FCHO1:NM_001161359:exon11:c.A753G:p.P251P,FCHO1:NM_001161358:exon12:c.A903G:p.P301P,FCHO1:NM_001161357:exon13:c.A903G:p.P301P,FCHO1:NM_015122:exon13:c.A903G:p.P301P 0.59 0.58 0.59 0.83 0.41 0.58 0.4931 0.5544 0.6818 0.8234 0.3476 0.4108 0.4537 0.5378 0.46 0.56 0.41 0.59 0.37 rs2287859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4971 0.5570 0.6708 0.4927 0.8196 0.3406 0.4080 0.4671 0.5387 0.4772 0.5564 0.6175 0.5331 0.8005 0.3466 0.4213 0.4204 het 815.22 61 19 17885270 . A G 815.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.195;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=59.01;MQ0=0;MQRankSum=-0.873;QD=13.36;ReadPosRankSum=-0.137;VQSLOD=6.0012;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,31:61:99:845,0,903 19 17886940 17886940 G A exonic FCHO1 synonymous SNV FCHO1:NM_001161359:exon14:c.G1002A:p.A334A,FCHO1:NM_001161358:exon15:c.G1152A:p.A384A,FCHO1:NM_001161357:exon16:c.G1152A:p.A384A,FCHO1:NM_015122:exon16:c.G1152A:p.A384A 0.57 0.57 0.54 0.78 0.4 0.57 0.4783 0.5453 0.6105 0.7626 0.3288 0.4089 0.4470 0.5358 0.46 0.55 0.41 0.56 0.35 rs2287854 COSM4131434 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4815 0.5473 0.6058 0.4907 0.7606 0.3306 0.4068 0.4541 0.5366 0.4649 0.5462 0.5671 0.5331 0.7432 0.3326 0.4155 0.4 het 2981.83 187 19 17886940 . G A 2981.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.618;DP=187;Dels=0.00;FS=5.188;HRun=0;HaplotypeScore=6.4020;MQ=59.88;MQ0=0;MQRankSum=0.265;QD=15.95;ReadPosRankSum=0.077;VQSLOD=3.7679;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,103:187:99:3012,0,2206 19 17892591 17892591 A G exonic FCHO1 synonymous SNV FCHO1:NM_001161359:exon21:c.A1749G:p.T583T,FCHO1:NM_001161358:exon22:c.A1899G:p.T633T,FCHO1:NM_001161357:exon23:c.A1899G:p.T633T,FCHO1:NM_015122:exon23:c.A1899G:p.T633T 0.86 0.75 0.89 0.83 0.95 0.91 0.9110 0.7752 0.8915 0.8120 0.9658 0.9438 0.9289 0.9068 0.89 0.79 0.94 0.86 0.93 rs2042298 COSM4131435 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9146 0.7745 0.8958 0.9648 0.8146 0.9694 0.9418 0.9210 0.9068 0.8930 0.7836 0.8998 0.9735 0.7975 0.9730 0.9445 0.9199 het 2036.32 144 19 17892591 . A G 2036.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.214;DP=144;Dels=0.00;FS=2.400;HRun=1;HaplotypeScore=3.6768;MQ=59.58;MQ0=0;MQRankSum=-0.368;QD=14.14;ReadPosRankSum=0.591;VQSLOD=6.0776;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,73:144:99:2066,0,1886 19 17922795 17922795 G A exonic B3GNT3 nonsynonymous SNV B3GNT3:NM_014256:exon3:c.G983A:p.R328H 0.74 0.89 0.77 0.51 0.78 0.72 0.7637 0.8841 0.8018 0.4866 0.8349 0.7739 0.7594 0.7355 0.8 0.88 0.76 0.8 0.79 rs36686 COSM4131436 2(thyroid) . . . . . . . . . . . 0.259 0.166 T 0.448 0.342 B 0.049 0.237 B 0.097 0.200 N 1 0.090 P 1.55 0.394 L 0.99 0.418 T -1.97 0.456 N 0.032 0.018 -0.981 0.349 T 0.000 0.000 T . . . 1.465 0.239 13.13 0.959 0.275 0.116 0.165 N c -0.781 -0.833 0.000 0.068 0.581 0.326 0 3.1 0.346 -0.360 0.076 0.089 0.194 0.000 0.063 0.087 0.184 5.127 0.141 . . . 0.7615 0.8851 0.8076 0.7860 0.4843 0.8386 0.7680 0.7626 0.7347 0.7945 0.8802 0.8115 0.8079 0.4963 0.8325 0.7682 0.7695 het 3149.70 246 19 17922795 . G A 3149.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.437;DP=246;DS;Dels=0.00;FS=3.618;HRun=0;HaplotypeScore=6.8904;MQ=59.62;MQ0=0;MQRankSum=-0.037;QD=12.80;ReadPosRankSum=-1.476;VQSLOD=4.4725;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,119:246:99:3180,0,3260 19 18123738 18123738 T C exonic ARRDC2 nonsynonymous SNV ARRDC2:NM_001025604:exon8:c.T1172C:p.L391P,ARRDC2:NM_001286826:exon8:c.T1184C:p.L395P,ARRDC2:NM_015683:exon8:c.T1187C:p.L396P 0.31 0.49 0.18 0.28 0.25 0.24 0.2483 0.4630 0.1630 0.2652 0.2453 0.2368 0.2539 0.2109 0.31 0.45 0.23 0.39 0.23 rs7259041 . . . . . . . . . . . . . 0.435 0.130 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 0.996 0.230 P -2.015 0.002 N 2.35 0.162 T 1.97 0.004 N 0.037 0.017 -0.926 0.447 T 0.000 0.000 T . . . -0.140 0.081 1.450 0.057 0.000 0.004 0.018 N c -1.301 -1.155 0.988 0.312 0.563 0.310 0 2.93 0.329 2.483 0.446 0.033 0.151 0.067 0.218 0.317 0.240 8.290 0.309 . . . 0.2396 0.4666 0.1629 0.2636 0.2695 0.2512 0.2309 0.2412 0.2087 0.3101 0.4621 0.1811 0.2483 0.2750 0.2639 0.2466 0.2766 het 731.58 83 19 18123738 . T C 731.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.014;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8130;MQ=59.55;MQ0=0;MQRankSum=0.469;QD=8.81;ReadPosRankSum=0.005;VQSLOD=5.0894;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,30:83:99:762,0,1352 19 18234441 18234441 C T exonic MAST3 synonymous SNV MAST3:NM_015016:exon7:c.C522T:p.H174H 0.56 0.44 0.53 0.67 0.5 0.7 0.5637 0.4769 0.5334 0.6805 0.5392 0.5434 0.5661 0.6628 0.52 0.48 0.53 0.48 . rs740691 COSM3756487;COSM3756488 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5251 0.4457 0.4970 0.4414 0.6721 0.4862 0.5105 0.5043 0.6251 0.5150 0.4600 0.5167 0.5099 0.6828 0.5118 0.5304 0.5051 hom 433.90 15 19 18234441 . C T 433.90 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=28.93;VQSLOD=8.3245;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:36.12:467,36,0 19 18245512 18245512 C T exonic MAST3 synonymous SNV MAST3:NM_015016:exon15:c.C1608T:p.I536I 0.53 0.32 0.52 0.67 0.5 0.7 0.5406 0.3508 0.5190 0.6901 0.5145 0.5268 0.5470 0.6530 0.46 0.34 0.52 0.47 . rs2270623 COSM3756490;COSM3756489 1(bone);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5343 0.3404 0.5159 0.4471 0.6880 0.5055 0.5264 0.5194 0.6438 0.4820 0.3437 0.5143 0.5033 0.6855 0.5195 0.5281 0.5020 hom 1029.12 32 19 18245512 . C T 1029.12 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.16;VQSLOD=14.4160;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:87.25:1062,87,0 19 18248146 18248146 T C exonic MAST3 synonymous SNV MAST3:NM_015016:exon18:c.T1983C:p.A661A 0.94 0.93 0.95 0.96 0.93 0.93 0.9387 0.9400 0.9469 0.9653 0.9507 0.9347 0.9211 0.9308 0.94 0.94 0.94 0.94 . rs541225 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9401 0.9389 0.9556 0.9277 0.9663 0.9474 0.9354 0.9196 0.9282 0.9426 0.9426 0.9499 0.9536 0.9642 0.9547 0.9375 0.9327 hom 5828.84 199 19 18248146 . T C 5828.84 Mask AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8540;MQ=58.19;MQ0=0;QD=29.29;VQSLOD=7.2286;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,199:199:99:5828,469,0 19 18255359 18255359 G A exonic MAST3 nonsynonymous SNV MAST3:NM_015016:exon22:c.G2581A:p.G861S 0.53 0.32 0.52 0.68 0.5 0.7 0.5478 0.3606 0.5254 0.7008 0.5183 0.5330 0.5512 0.6543 0.46 0.34 0.52 0.47 . rs8108738 COSM3756492;COSM3756491 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.341 0.127 T 0.002 0.090 B 0.002 0.063 B 0.131 0.186 N 1.000 0.090 P 1.455 0.369 L -0.15 0.652 T 0.28 0.042 N 0.036 0.016 -0.914 0.463 T 0.000 0.000 T . . . 1.620 0.256 13.96 0.898 0.186 0.739 0.359 D c -0.614 -0.550 0.711 0.228 0.672 0.522 0 2.28 0.275 2.254 0.426 0.824 0.337 0.946 0.326 0.798 0.336 8.382 0.315 . ENSG00000099308.6|ENSG00000268650.3|ENSG00000105650.17 Cells_Transformed_fibroblasts|Testis|Testis 0.5347 0.3407 0.5158 0.4476 0.6926 0.5042 0.5252 0.5192 0.6445 0.4800 0.3432 0.5143 0.5033 0.6830 0.5166 0.5257 0.4990 hom 986.15 31 19 18255359 . G A 986.15 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.81;VQSLOD=14.1115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:81.25:1019,81,0 19 18273047 18273047 T C exonic PIK3R2 nonsynonymous SNV PIK3R2:NM_005027:exon8:c.T937C:p.S313P 0.95 0.97 0.96 0.96 0.95 0.92 0.9501 0.9682 0.9703 0.9668 0.9540 0.9477 0.9436 0.9242 0.96 0.97 0.95 0.94 0.6 rs1011320 . . . . . . . . . . . . . 0.722 0.039 T 0.0 0.026 B 0.0 0.013 B 0.041 0.240 N 1 0.090 P -1.04 0.011 N 0.88 0.460 T 1.68 0.006 N 0.042 0.030 -1.020 0.237 T 0.000 0.000 T . . . -1.239 0.024 0.006 0.067 0.000 0.004 0.021 N c -1.522 -1.516 1.000 0.747 0.732 0.924 0 -1.99 0.070 0.002 0.129 -0.061 0.121 0.000 0.063 0.006 0.095 7.151 0.246 . . . 0.9520 0.9679 0.9738 0.9462 0.9677 0.9529 0.9495 0.9501 0.9220 0.9570 0.9703 0.9737 0.9667 0.9635 0.9587 0.9480 0.9418 hom 1413.65 47 19 18273047 . T C 1413.65 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7128;MQ=59.51;MQ0=0;QD=30.08;VQSLOD=8.7138;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1447,111,0 19 18279638 18279638 T C exonic PIK3R2 synonymous SNV PIK3R2:NM_005027:exon15:c.T1911C:p.S637S 0.86 0.78 0.85 0.94 0.89 0.87 0.8800 0.7838 0.8652 0.9309 0.9149 0.8888 0.8929 0.8736 0.85 0.78 0.89 0.83 0.8 rs273269 COSM4131467 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8815 0.7757 0.8715 0.8679 0.9302 0.9143 0.8894 0.8800 0.8701 0.8614 0.7798 0.9021 0.8709 0.9227 0.9186 0.8861 0.8666 hom 1182.18 42 19 18279638 . T C 1182.18 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;QD=28.15;VQSLOD=7.3926;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1215,105,0 19 18311199 18311199 A G exonic RAB3A synonymous SNV RAB3A:NM_002866:exon3:c.T285C:p.A95A 0.16 0.029 0.24 0.092 0.37 0.15 0.2791 0.0657 0.2584 0.0988 0.4710 0.3466 0.2963 0.1714 0.25 0.076 0.34 0.13 0.39 rs1046565 COSM148533 1(breast);1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2843 0.0607 0.2682 0.2581 0.1014 0.4631 0.3443 0.2991 0.1740 0.2692 0.0691 0.2971 0.2781 0.1043 0.4540 0.3554 0.3214 het 2446.66 194 19 18311199 . A G 2446.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.178;DP=194;Dels=0.00;FS=4.116;HRun=1;HaplotypeScore=3.7613;MQ=59.22;MQ0=0;MQRankSum=-0.206;QD=12.61;ReadPosRankSum=-0.597;VQSLOD=5.3535;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:96,98:194:99:2477,0,2327 19 18329240 18329240 T C exonic PDE4C synonymous SNV PDE4C:NM_001098818:exon10:c.A1038G:p.E346E,PDE4C:NM_001098819:exon10:c.A816G:p.E272E,PDE4C:NM_000923:exon11:c.A1134G:p.E378E,PDE4C:NM_001330172:exon11:c.A1134G:p.E378E 0.42 0.45 0.55 0.17 0.65 0.31 0.5435 0.4671 0.5401 0.2035 0.7313 0.6234 0.5771 0.3711 0.57 0.47 0.62 0.4 0.66 rs1042050 COSM148534;COSM5762332 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5506 0.4640 0.5500 0.6125 0.2039 0.7276 0.6220 0.5777 0.3764 0.5739 0.4768 0.5837 0.6291 0.1856 0.7219 0.6350 0.5949 het 3030.70 238 19 18329240 . T C 3030.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.297;DP=238;DS;Dels=0.00;FS=1.012;HRun=2;HaplotypeScore=9.5856;MQ=58.92;MQ0=0;MQRankSum=-0.821;QD=12.73;ReadPosRankSum=-1.074;VQSLOD=4.0554;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,110:238:99:3061,0,3436 19 18329784 18329784 C T exonic PDE4C nonsynonymous SNV PDE4C:NM_001098818:exon9:c.G935A:p.R312Q,PDE4C:NM_001098819:exon9:c.G713A:p.R238Q,PDE4C:NM_000923:exon10:c.G1031A:p.R344Q,PDE4C:NM_001330172:exon10:c.G1031A:p.R344Q 0.21 0.2 0.25 0.1 0.36 0.15 0.2894 0.2127 0.2499 0.1097 0.4737 0.3428 0.3029 0.1689 0.3 0.23 0.34 0.18 0.34 rs2229228 COSM148535;COSM5762336 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.054 0.388 T 0.948 0.574 P 0.201 0.438 B 0.000 0.629 N 0.681 0.303 P 2.23 0.633 M -0.49 0.704 T -3.38 0.671 D 0.038 0.032 -1.084 0.065 T 0.000 0.000 T . . . 3.628 0.493 23.2 0.998 0.919 0.647 0.322 D c -0.074 -0.144 0.005 0.108 0.615 0.372 0 2.33 0.279 1.132 0.308 -0.070 0.120 0.470 0.265 0.961 0.442 7.446 0.262 -cyclic nucleotide phosphodiesterase\x2c catalytic domain;3'5&apos ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000105650.17|ENSG00000254858.5|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000268650.3|ENSG00000105650.17|ENSG00000130518.12 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid 0.2913 0.2110 0.2619 0.2475 0.1103 0.4665 0.3408 0.2950 0.1718 0.3139 0.2249 0.2959 0.2715 0.1069 0.4565 0.3552 0.3364 het 1206.18 104 19 18329784 . C T 1206.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.719;DP=104;Dels=0.00;FS=3.599;HRun=0;HaplotypeScore=4.9823;MQ=58.43;MQ0=0;MQRankSum=-0.225;QD=11.60;ReadPosRankSum=-2.363;VQSLOD=3.4449;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,48:104:99:1236,0,1429 19 18368810 18368810 G T exonic KIAA1683 nonsynonymous SNV KIAA1683:NM_001145304:exon4:c.C3284A:p.P1095H,KIAA1683:NM_001145305:exon4:c.C2585A:p.P862H,KIAA1683:NM_025249:exon4:c.C2723A:p.P908H 0.55 0.69 0.6 0.55 0.47 0.41 0.4983 0.6803 0.6567 0.5684 0.5153 0.4590 0.4839 0.3889 0.53 0.67 0.45 0.58 0.45 rs999813 COSM438967;COSM1480790 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.28 0.155 T 0.0 0.026 B 0.0 0.040 B 0.897 0.073 N 1 0.090 P -0.69 0.019 N 4.01 0.035 T 0.18 0.050 N 0.035 0.095 -1.054 0.132 T 0.000 0.000 T . . . -0.792 0.041 0.045 0.305 0.017 0.002 0.012 N c -1.452 -1.465 0.000 0.053 0.554 0.283 0 -1.61 0.079 -0.705 0.051 -0.339 0.072 0.000 0.063 0.000 0.016 1.351 0.020 . ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000105650.17|ENSG00000268650.3|ENSG00000105650.17|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.5011 0.6778 0.6497 0.4427 0.5664 0.5115 0.4538 0.4967 0.3968 0.5410 0.6824 0.6566 0.4570 0.5562 0.5158 0.4611 0.4939 het 1994.68 164 19 18368810 . G T 1994.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.147;DP=164;Dels=0.00;FS=1.283;HRun=0;HaplotypeScore=3.6008;MQ=59.80;MQ0=0;MQRankSum=0.750;QD=12.16;ReadPosRankSum=0.579;VQSLOD=6.1774;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,77:164:99:2025,0,2493 19 18375815 18375815 G A exonic KIAA1683 synonymous SNV KIAA1683:NM_001145304:exon3:c.C2535T:p.N845N,KIAA1683:NM_001145305:exon3:c.C2397T:p.N799N,KIAA1683:NM_025249:exon3:c.C2535T:p.N845N 0.3 0.46 0.25 0.32 0.16 0.26 0.2216 0.4288 0.2551 0.3253 0.1681 0.1721 0.2036 0.2349 0.25 0.42 0.16 0.3 0.19 rs8103177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2180 0.4288 0.2547 0.1686 0.3285 0.1746 0.1684 0.1919 0.2348 0.2557 0.4292 0.2536 0.1656 0.3340 0.1703 0.1722 0.1969 het 1207.92 116 19 18375815 . G A 1207.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.445;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7552;MQ=59.12;MQ0=0;MQRankSum=-0.145;QD=10.41;ReadPosRankSum=0.714;VQSLOD=6.5697;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,47:116:99:1238,0,1713 19 18375846 18375846 G A exonic KIAA1683 nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.C2504T:p.P835L,KIAA1683:NM_001145305:exon3:c.C2366T:p.P789L,KIAA1683:NM_025249:exon3:c.C2504T:p.P835L 0.3 0.46 0.25 0.32 0.16 0.26 0.2219 0.4303 0.2551 0.3253 0.1680 0.1726 0.2032 0.2349 0.25 0.42 0.16 0.3 0.19 rs2277921 COSM3756496;COSM3756497 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.293 N 1 0.090 P -2.11 0.002 N 4.42 0.024 T 2.5 0.002 N 0.026 0.064 -1.012 0.262 T 0.000 0.000 T . . . 0.036 0.097 2.942 0.209 0.008 0.000 0.002 N c -1.263 -1.171 0.939 0.273 0.421 0.056 0 4.29 0.502 1.498 0.350 0.202 0.252 0.004 0.165 0.002 0.062 6.905 0.233 . . . 0.2189 0.4298 0.2547 0.1688 0.3289 0.1795 0.1687 0.1909 0.2348 0.2560 0.4295 0.2518 0.1656 0.3329 0.1706 0.1725 0.1969 het 1485.73 111 19 18375846 . G A 1485.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.441;DP=111;Dels=0.00;FS=4.741;HRun=0;HaplotypeScore=8.2611;MQ=58.69;MQ0=0;MQRankSum=0.425;QD=13.38;ReadPosRankSum=2.734;VQSLOD=3.3196;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,54:111:99:1516,0,1491 19 18375882 18375882 G C exonic KIAA1683 nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.C2468G:p.P823R,KIAA1683:NM_001145305:exon3:c.C2330G:p.P777R,KIAA1683:NM_025249:exon3:c.C2468G:p.P823R 0.15 0.026 0.12 0.3 0.13 0.21 0.1594 0.0362 0.1397 0.3186 0.1626 0.1499 0.1489 0.2028 0.1 0.04 0.14 0.087 0.11 rs12608777 COSM3756499;COSM3756498 1(large_intestine) . . . . . . . . . . . 0.222 0.188 T 0.924 0.647 P 0.269 0.607 B 0.531 0.053 N 1 0.090 P 1.65 0.424 L 3.96 0.036 T -1.04 0.273 N 0.069 0.181 -0.923 0.451 T 0.000 0.000 T . . . 1.554 0.249 13.60 0.938 0.232 0.056 0.114 N c -0.839 -1.016 0.540 0.212 0.421 0.056 0 -1.29 0.088 0.260 0.181 -0.349 0.070 0.000 0.063 0.000 0.016 3.237 0.063 . . . 0.1588 0.0367 0.1411 0.1356 0.3194 0.1707 0.1450 0.1395 0.2036 0.1308 0.0385 0.1562 0.1490 0.3269 0.1658 0.1514 0.1612 het 1181.51 85 19 18375882 . G C 1181.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.489;DP=85;Dels=0.00;FS=9.021;HRun=2;HaplotypeScore=0.7887;MQ=59.46;MQ0=0;MQRankSum=-1.310;QD=13.90;ReadPosRankSum=0.304;VQSLOD=3.6435;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,46:85:99:1212,0,1106 19 18376407 18376407 T A exonic KIAA1683 nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.A1943T:p.Y648F,KIAA1683:NM_001145305:exon3:c.A1805T:p.Y602F,KIAA1683:NM_025249:exon3:c.A1943T:p.Y648F 0.54 0.69 0.59 0.55 0.43 0.42 0.4796 0.6721 0.6407 0.5604 0.4945 0.4314 0.4578 0.3918 0.51 0.67 0.43 0.55 0.49 rs8110972 COSM4000575;COSM4000576 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.111 0.290 T 0.002 0.090 B 0.003 0.080 B 0.431 0.047 N 1 0.090 P 0.83 0.210 L 3.58 0.050 T -1.52 0.370 N 0.027 0.052 -0.955 0.402 T 0.000 0.000 T . . . -1.751 0.012 0.002 0.318 0.018 0.019 0.057 N c -1.809 -1.903 0.998 0.356 0.421 0.056 0 -8.1 0.010 -1.029 0.037 0.029 0.149 0.000 0.063 0.002 0.062 0.460 0.005 . ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000268650.3|ENSG00000105650.17|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.4837 0.6765 0.6354 0.4250 0.5609 0.4896 0.4278 0.4696 0.3983 0.5235 0.6769 0.6435 0.4437 0.5547 0.4948 0.4351 0.4773 het 1678.91 85 19 18376407 . T A 1678.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.212;DP=85;Dels=0.00;FS=1.880;HRun=1;HaplotypeScore=0.9983;MQ=60.00;MQ0=0;MQRankSum=-1.219;QD=19.75;ReadPosRankSum=0.060;VQSLOD=5.0248;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,56:85:99:1709,0,743 19 18376517 18376517 C T exonic KIAA1683 synonymous SNV KIAA1683:NM_001145304:exon3:c.G1833A:p.Q611Q,KIAA1683:NM_001145305:exon3:c.G1695A:p.Q565Q,KIAA1683:NM_025249:exon3:c.G1833A:p.Q611Q 0.15 0.026 0.12 0.3 0.13 0.21 0.1568 0.0349 0.1393 0.3144 0.1608 0.1469 0.1479 0.2023 0.1 0.04 0.14 0.087 0.11 rs61740752 COSM4000577;COSM4000578 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1576 0.0361 0.1407 0.1353 0.3186 0.1646 0.1433 0.1393 0.2032 0.1298 0.0377 0.1555 0.1490 0.3269 0.1656 0.1501 0.1616 het 1443.05 109 19 18376517 . C T 1443.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.543;DP=109;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7988;MQ=59.17;MQ0=0;MQRankSum=0.524;QD=13.24;ReadPosRankSum=1.816;VQSLOD=5.3633;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,53:109:99:1473,0,1524 19 18376522 18376522 T G exonic KIAA1683 nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.A1828C:p.T610P,KIAA1683:NM_001145305:exon3:c.A1690C:p.T564P,KIAA1683:NM_025249:exon3:c.A1828C:p.T610P 0.56 0.73 0.61 0.55 0.45 0.42 0.4931 0.7115 0.6541 0.5591 0.5006 0.4465 0.4801 0.3947 0.53 0.71 0.44 0.59 0.47 rs2277922 COSM1600361;COSM1600360 1(haematopoietic_and_lymphoid_tissue);1(central_nervous_system) . . . . . . . . . . . 0.57 0.062 T 0.0 0.026 B 0.0 0.013 B 0.714 0.100 N 1 0.090 P -1.355 0.007 N 4.12 0.032 T 1.26 0.010 N 0.041 0.061 -0.967 0.378 T 0.000 0.000 T . . . -0.789 0.041 0.045 0.072 0.000 0.001 0.008 N c -1.804 -1.781 0.348 0.196 0.421 0.056 0 -4.38 0.034 -0.384 0.074 -0.905 0.026 0.000 0.063 0.000 0.016 0.695 0.008 . ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000268650.3|ENSG00000105650.17|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.4974 0.7143 0.6491 0.4433 0.5609 0.4961 0.4440 0.4911 0.4018 0.5453 0.7190 0.6583 0.4570 0.5534 0.4991 0.4530 0.4898 het 1465.51 106 19 18376522 . T G 1465.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.211;DP=106;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7988;MQ=59.15;MQ0=0;MQRankSum=0.231;QD=13.83;ReadPosRankSum=1.040;VQSLOD=6.4581;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,52:106:99:1496,0,1433 19 18377274 18377274 A G exonic KIAA1683 nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.T1076C:p.M359T,KIAA1683:NM_001145305:exon3:c.T938C:p.M313T,KIAA1683:NM_025249:exon3:c.T1076C:p.M359T 0.54 0.69 0.59 0.55 0.43 0.42 0.4862 0.6728 0.6414 0.5612 0.4949 0.4328 0.4684 0.4137 0.51 0.67 0.43 0.56 0.49 rs3746186 COSM4000580;COSM4000579 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.643 0.049 T 0.0 0.026 B 0.0 0.013 B 0.210 0.034 N 1 0.090 P -0.235 0.039 N 3.84 0.039 T -0.98 0.260 N 0.034 0.023 -1.011 0.267 T 0.000 0.000 T . . . -2.074 0.007 0.001 0.237 0.010 0.008 0.032 N c -1.944 -1.951 0.000 0.061 0.581 0.326 0 -2.6 0.058 -0.113 0.107 -1.357 0.013 0.000 0.063 0.000 0.016 4.419 0.108 . ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000268650.3|ENSG00000105650.17|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.4850 0.6770 0.6320 0.4208 0.5580 0.4899 0.4279 0.4665 0.3982 0.5227 0.6765 0.6420 0.4437 0.5516 0.4951 0.4344 0.4775 het 1003.84 99 19 18377274 . A G 1003.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.186;DP=99;Dels=0.00;FS=5.378;HRun=0;HaplotypeScore=4.4978;MQ=59.30;MQ0=0;MQRankSum=0.007;QD=10.14;ReadPosRankSum=-0.567;VQSLOD=4.9227;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,41:99:99:1034,0,1530 19 18377496 18377496 C G exonic KIAA1683 nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.G854C:p.S285T,KIAA1683:NM_001145305:exon3:c.G716C:p.S239T,KIAA1683:NM_025249:exon3:c.G854C:p.S285T 0.54 0.69 0.59 0.55 0.43 0.42 0.4793 0.6722 0.6399 0.5604 0.4947 0.4310 0.4604 0.3936 0.51 0.67 0.43 0.56 0.49 rs8104533 COSM4000582;COSM4000581 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.547 0.115 N 1 0.090 P -1.65 0.004 N 4.18 0.029 T 1.01 0.014 N 0.011 0.003 -1.013 0.259 T 0.000 0.000 T . . . -1.438 0.018 0.003 0.060 0.000 0.001 0.006 N c -1.557 -1.513 0.001 0.078 0.421 0.056 0 1.08 0.194 -0.295 0.083 0.101 0.200 0.000 0.063 0.000 0.016 3.398 0.068 . ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000268650.3|ENSG00000105650.17|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.4841 0.6765 0.6348 0.4261 0.5611 0.4906 0.4280 0.4697 0.4010 0.5233 0.6773 0.6388 0.4437 0.5536 0.4951 0.4353 0.4765 het 2619.91 208 19 18377496 . C G 2619.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.570;DP=208;Dels=0.00;FS=10.332;HRun=0;HaplotypeScore=3.8276;MQ=59.31;MQ0=0;MQRankSum=1.800;QD=12.60;ReadPosRankSum=-0.449;VQSLOD=4.0640;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,104:208:99:2650,0,2836 19 18377647 18377647 G C exonic KIAA1683 nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.C703G:p.L235V,KIAA1683:NM_001145305:exon3:c.C565G:p.L189V,KIAA1683:NM_025249:exon3:c.C703G:p.L235V 0.56 0.73 0.61 0.55 0.45 0.42 0.4939 0.7108 0.6532 0.5596 0.5015 0.4469 0.4822 0.3983 0.53 0.7 0.44 0.51 0.48 rs8103906 COSM4967825;COSM4967824 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.892 0.087 N 1 0.090 P -0.75 0.017 N 4.1 0.032 T 0.63 0.024 N 0.008 0.004 -0.983 0.344 T 0.000 0.000 T . . . -3.193 0.001 0.001 0.084 0.001 0.000 0.002 N c -2.233 -2.190 0.000 0.052 0.581 0.326 0 -0.595 0.110 -1.192 0.031 -1.838 0.006 0.000 0.063 0.000 0.016 2.334 0.040 . ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000268650.3|ENSG00000105650.17|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.4977 0.7116 0.6485 0.4435 0.5607 0.4966 0.4443 0.4907 0.4040 0.5445 0.7165 0.6571 0.4567 0.5549 0.5 0.4527 0.4887 het 741.69 50 19 18377647 . G C 741.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.573;DP=50;Dels=0.00;FS=1.742;HRun=5;HaplotypeScore=2.5929;MQ=59.54;MQ0=0;MQRankSum=-0.353;QD=14.83;ReadPosRankSum=-1.059;VQSLOD=5.5937;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,28:50:99:772,0,609 19 18377761 18377761 A G exonic KIAA1683 nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.T589C:p.C197R,KIAA1683:NM_001145305:exon3:c.T451C:p.C151R,KIAA1683:NM_025249:exon3:c.T589C:p.C197R 0.15 0.026 0.12 0.3 0.13 0.21 0.1595 0.0353 0.1411 0.3169 0.1617 0.1488 0.1449 0.2090 0.1 0.04 0.14 0.087 0.11 rs12609001 COSM5424369;COSM5424368 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.365 0.117 T 0.689 0.397 P 0.128 0.312 B 0.162 0.030 N 1 0.090 P 0.345 0.112 N 3.98 0.035 T -1.06 0.277 N 0.097 0.118 -0.921 0.455 T 0.000 0.000 T . . . -0.943 0.034 0.021 0.461 0.036 0.059 0.117 N c -1.223 -1.314 0.012 0.123 0.660 0.495 0 -2.62 0.058 -0.235 0.090 0.202 0.252 0.000 0.063 0.239 0.226 1.464 0.022 . . . 0.1589 0.0363 0.1430 0.1356 0.3189 0.1654 0.1446 0.1401 0.2052 0.1306 0.0381 0.1547 0.1490 0.3263 0.1658 0.1516 0.1616 het 667.51 54 19 18377761 . A G 667.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.380;DP=54;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.9090;MQ=58.44;MQ0=0;MQRankSum=-0.943;QD=12.36;ReadPosRankSum=-1.324;VQSLOD=5.3188;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,26:54:99:698,0,788 19 18378219 18378219 A G exonic KIAA1683 nonsynonymous SNV KIAA1683:NM_001145304:exon3:c.T131C:p.L44P,KIAA1683:NM_025249:exon3:c.T131C:p.L44P 0.56 0.73 0.61 0.55 0.45 0.43 0.5020 0.7117 0.6549 0.5609 0.5011 0.4489 0.4858 0.4255 0.53 0.71 0.45 0.59 0.47 rs1469023 COSM4000583;COSM4000584 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.181 0.219 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.186 P 0 0.065 N 3.9 0.036 T 1.55 0.007 N 0.031 0.012 -1.059 0.119 T 0.000 0.000 T . . . 0.704 0.161 8.851 0.722 0.096 0.012 0.043 N c -1.630 -1.676 0.998 0.362 0.554 0.283 0 -2.54 0.059 -1.334 0.028 -0.933 0.025 0.000 0.063 0.000 0.016 3.5 0.072 . ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000268650.3|ENSG00000105650.17|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12|ENSG00000130518.12 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.5018 0.7135 0.6499 0.4463 0.5605 0.4978 0.4460 0.4903 0.4082 0.5454 0.7188 0.6563 0.4570 0.5520 0.5 0.4535 0.4907 het 2438.25 170 19 18378219 . A G 2438.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.572;DP=170;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7605;MQ=59.20;MQ0=0;MQRankSum=-0.538;QD=14.34;ReadPosRankSum=1.165;VQSLOD=6.1955;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,97:170:99:2468,0,2000 19 18497024 18497024 G C exonic GDF15 nonsynonymous SNV GDF15:NM_004864:exon1:c.G25C:p.V9L 0.71 0.82 0.7 0.68 0.68 0.64 0.6874 0.7811 0.7010 0.6600 0.8009 0.6750 0.7013 0.6376 0.7 0.79 0.66 0.73 0.47 rs1059519 COSM137684 1(skin);2(large_intestine) . . . . . . . . . . . 0.776 0.033 T 0.0 0.026 B 0.0 0.013 B 0.156 0.030 N 1 0.090 P -0.345 0.033 N -1.55 0.817 D 0.42 0.034 N 0.067 0.054 -0.957 0.397 T 0.000 0.000 T . . . -0.707 0.045 0.070 0.429 0.032 0.061 0.120 N c -1.521 -1.538 1.0 0.983 0.778 0.996 0 -1.7 0.077 0.157 0.161 -0.542 0.048 0.000 0.063 0.000 0.016 1.240 0.018 . ENSG00000130517.9 Whole_Blood 0.6896 0.7825 0.7106 0.6843 0.6590 0.7945 0.6700 0.6763 0.6369 0.7237 0.7705 0.7225 0.6854 0.6638 0.8025 0.6856 0.7207 het 653.05 71 19 18497024 . G C 653.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.797;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8918;MQ=59.32;MQ0=0;MQRankSum=1.109;QD=9.20;ReadPosRankSum=-1.792;VQSLOD=3.5837;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,28:71:99:683,0,1134 19 18497137 18497137 G A exonic GDF15 synonymous SNV GDF15:NM_004864:exon1:c.G138A:p.L46L 0.1 0.098 0.14 0.0069 0.18 0.1 0.1487 0.1000 0.1076 0.0034 0.2273 0.1846 0.1540 0.1084 0.16 0.1 0.19 0.087 0.15 rs6413435 COSM3756500 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1507 0.0973 0.1146 0.2137 0.0042 0.2200 0.1833 0.1641 0.1080 0.1512 0.0926 0.1265 0.2119 0.0025 0.2222 0.1843 0.1602 het 384.64 38 19 18497137 . G A 384.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.961;DP=38;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.0000;MQ=59.51;MQ0=0;MQRankSum=-1.944;QD=10.12;ReadPosRankSum=-0.862;VQSLOD=5.3334;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,18:38:99:415,0,603 19 18499151 18499151 C T exonic GDF15 synonymous SNV GDF15:NM_004864:exon2:c.C333T:p.P111P 0.17 0.36 0.16 0.0069 0.17 0.098 0.1657 0.3484 0.1164 0.0033 0.2182 0.1813 0.1727 0.1057 0.23 0.33 0.17 0.22 0.18 rs1059022 COSM438970 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1620 0.3399 0.1232 0.2118 0.0042 0.2052 0.1783 0.1684 0.1037 0.2110 0.3233 0.1427 0.2119 0.0025 0.2054 0.1757 0.1735 het 616.07 35 19 18499151 . C T 616.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.768;DP=35;Dels=0.00;FS=5.488;HRun=0;HaplotypeScore=0.8667;MQ=59.34;MQ0=0;MQRankSum=1.566;QD=17.60;ReadPosRankSum=-1.128;VQSLOD=4.6468;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,21:35:99:646,0,290 19 18502835 18502835 G A exonic LRRC25 nonsynonymous SNV LRRC25:NM_145256:exon2:c.C880T:p.P294S 0.72 0.86 0.7 0.67 0.68 0.64 0.6919 0.8295 0.7078 0.6533 0.8015 0.6752 0.7013 0.6375 0.72 0.83 0.66 0.76 0.56 rs6512265 . . . . . . . . . . . . . 0.07 0.353 T 0.027 0.182 B 0.006 0.112 B 0.599 0.110 N 1 0.090 P 1.75 0.456 L 1.42 0.332 T -3.42 0.672 D 0.04 0.020 -1.046 0.155 T 0.000 0.000 T . . . -0.827 0.039 0.037 0.967 0.302 0.019 0.058 N c -1.376 -1.449 1.000 0.480 0.644 0.439 0 -1.63 0.079 -0.482 0.066 -1.395 0.012 0.000 0.063 0.000 0.016 1.127 0.016 . ENSG00000130517.9 Whole_Blood 0.6928 0.8303 0.7160 0.6814 0.6515 0.7946 0.6702 0.6760 0.6370 0.7359 0.8142 0.7315 0.6821 0.6559 0.8018 0.6860 0.7187 het 1133.70 61 19 18502835 . G A 1133.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.104;DP=61;Dels=0.00;FS=1.158;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=-0.554;QD=18.59;ReadPosRankSum=0.615;VQSLOD=5.5821;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,40:61:99:1164,0,539 19 18538742 18538742 A C exonic SSBP4 synonymous SNV SSBP4:NM_001009998:exon4:c.A229C:p.R77R,SSBP4:NM_032627:exon4:c.A229C:p.R77R 0.47 0.83 0.37 0.22 0.35 0.45 0.3914 0.7572 0.3838 0.2347 0.3788 0.3478 0.3838 0.4296 0.48 0.75 0.34 0.43 0.46 rs10405636 COSM3756504 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3814 0.7613 0.3830 0.2576 0.2290 0.3820 0.3512 0.3657 0.4278 0.4673 0.7563 0.4294 0.27 0.2534 0.3804 0.3533 0.3940 het 1083.87 101 19 18538742 . A C 1083.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.834;DP=101;Dels=0.00;FS=3.881;HRun=1;HaplotypeScore=3.7134;MQ=58.10;MQ0=0;MQRankSum=0.201;QD=10.73;ReadPosRankSum=-0.130;VQSLOD=4.8603;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,44:101:99:1114,0,1471 19 18545786 18545786 G T exonic ISYNA1 synonymous SNV ISYNA1:NM_001253389:exon8:c.C1230A:p.T410T,ISYNA1:NM_001170938:exon10:c.C1452A:p.T484T,ISYNA1:NM_016368:exon11:c.C1614A:p.T538T . . . . . . 0.2124 0.2301 0.2988 0.1442 0.2009 0.2032 0.2333 0.2167 0.21 0.24 0.2 0.26 0.29 rs1045631 COSM3766301 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2146 0.2229 0.2931 0.1607 0.1398 0.2104 0.2059 0.2084 0.2198 0.2117 0.2125 0.3258 0.1623 0.1447 0.2090 0.2139 0.2099 het 1309.49 102 19 18545786 . G T 1309.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.582;DP=102;Dels=0.00;FS=3.729;HRun=2;HaplotypeScore=2.9973;MQ=59.63;MQ0=0;MQRankSum=-1.074;QD=12.84;ReadPosRankSum=0.827;VQSLOD=4.9440;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,52:102:99:1339,0,1293 19 18546678 18546678 T C exonic ISYNA1 synonymous SNV ISYNA1:NM_001253389:exon5:c.A645G:p.L215L,ISYNA1:NM_001170938:exon7:c.A867G:p.L289L,ISYNA1:NM_016368:exon8:c.A1029G:p.L343L 0.47 0.83 0.37 0.22 0.35 0.45 0.3907 0.7574 0.3841 0.2335 0.3777 0.3465 0.3866 0.4299 0.48 0.75 0.34 0.46 0.45 rs2303697 COSM3722191 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3814 0.7619 0.3830 0.2572 0.2274 0.3813 0.3513 0.3661 0.4288 0.4664 0.7559 0.4282 0.2682 0.2534 0.3795 0.3523 0.3922 het 4242.02 244 19 18546678 . T C 4242.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.477;DP=244;DS;Dels=0.00;FS=8.098;HRun=0;HaplotypeScore=7.2705;MQ=59.52;MQ0=0;MQRankSum=0.646;QD=17.39;ReadPosRankSum=-0.214;VQSLOD=4.0441;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,124:244:99:3597,0,3115 19 18679379 18679379 C G exonic KXD1 nonsynonymous SNV KXD1:NM_001171949:exon5:c.C469G:p.P157A,KXD1:NM_024069:exon5:c.C469G:p.P157A,KXD1:NM_001171948:exon6:c.C469G:p.P157A 0.46 0.15 0.55 0.69 0.56 0.49 0.5288 0.1959 0.6202 0.6727 0.6113 0.5511 0.5387 0.4752 0.44 0.2 0.56 0.34 0.45 rs7648 COSM3756507 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.714 0.040 T 0.131 0.256 B 0.039 0.223 B 0.018 0.275 N 1 0.090 P 1.01 0.254 L 1.0 0.433 T -0.09 0.084 N 0.106 0.140 -0.958 0.396 T 0.000 0.000 T . . . 0.481 0.140 7.283 0.709 0.092 0.288 0.234 N c -0.984 -0.992 0.962 0.286 0.707 0.730 0 2.41 0.285 0.491 0.220 0.007 0.138 0.000 0.063 0.006 0.095 6.639 0.219 . ENSG00000221983.3|ENSG00000221983.3|ENSG00000221983.3|ENSG00000221983.3|ENSG00000221983.3|ENSG00000221983.3|ENSG00000268030.1|ENSG00000221983.3|ENSG00000221983.3|ENSG00000221983.3|ENSG00000221983.3|ENSG00000221983.3|ENSG00000221983.3|ENSG00000221983.3|ENSG00000221983.3|ENSG00000105700.6|ENSG00000268983.1|ENSG00000221983.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Hippocampus|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid 0.5396 0.1919 0.6064 0.4570 0.6704 0.6164 0.5574 0.5285 0.4757 0.4864 0.2039 0.6172 0.4768 0.6520 0.6108 0.5905 0.5827 hom 4736.19 149 19 18679379 . C G 4736.19 Mask AC=2;AF=1.00;AN=2;DP=149;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4075;MQ=59.33;MQ0=1;QD=31.79;VQSLOD=8.1691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4736,379,0 19 18701700 18701700 G A exonic C19orf60 nonsynonymous SNV C19orf60:NM_001100418:exon4:c.G490A:p.A164T,C19orf60:NM_001100419:exon4:c.G424A:p.A142T 0.0016 0.0015 0.0014 . 0.002 0.0031 0.0055 0.0031 0.0037 0 0.0019 0.0082 0.0023 0.0018 0.0052 0.0019 0.0069 . . rs34613961 . . . . . . . . . . . . . 0.648 0.050 T 0.0 0.102 B 0.001 0.104 B 0.951 0.077 N 1 0.090 N -0.805 0.016 N . . . -0.65 0.189 N 0.009 0.001 -1.001 0.297 T 0.011 0.043 T 0.002 0.046 T -0.672 0.046 0.083 0.759 0.109 0.015 0.049 N c -1.682 -1.665 1.000 0.747 0.713 0.817 0 -3.06 0.050 -0.109 0.107 -0.372 0.066 0.028 0.201 0.000 0.016 3.422 0.069 . . . 0.0033 0.0018 0.0022 0.0003 0 0.0012 0.0056 0.0025 0.0012 0.0024 0.0010 0.0024 0 0 0.0011 0.0039 0.0020 het 350.69 28 19 18701700 . G A 350.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.239;DP=28;Dels=0.00;FS=1.510;HRun=0;HaplotypeScore=2.4551;MQ=60.00;MQ0=0;MQRankSum=0.427;QD=12.52;ReadPosRankSum=-1.130;VQSLOD=5.4931;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,17:28:99:381,0,290 19 18710535 18710535 G A exonic CRLF1 synonymous SNV CRLF1:NM_004750:exon2:c.C237T:p.N79N 0.27 0.078 0.35 0.53 0.23 0.25 0.2631 0.1142 0.4757 0.5296 0.2786 0.2179 0.2516 0.2456 0.16 0.1 0.19 0.18 0.098 rs2238647 COSM3756508 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2465 0.0987 0.4068 0.1002 0.4978 0.2308 0.2012 0.2282 0.2220 0.2031 0.1023 0.3768 0.1033 0.4796 0.2318 0.2138 0.2618 het 260.54 20 19 18710535 . G A 260.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.216;DP=20;Dels=0.00;FS=1.922;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=-1.444;QD=13.03;ReadPosRankSum=-1.595;VQSLOD=3.9474;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,11:20:99:291,0,266 19 18726856 18726856 T C exonic TMEM59L synonymous SNV TMEM59L:NM_012109:exon4:c.T480C:p.L160L 0.51 0.5 0.49 0.65 0.47 0.43 0.4731 0.5082 0.5412 0.6465 0.5058 0.4461 0.4791 0.4087 0.48 0.51 0.46 0.39 0.4 rs709679 COSM3756509 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4750 0.5153 0.5290 0.3963 0.6387 0.5115 0.4470 0.4637 0.4065 0.4981 0.5154 0.5228 0.4040 0.6317 0.5252 0.4660 0.5277 het 1227.28 111 19 18726856 . T C 1227.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.332;DP=111;Dels=0.00;FS=6.222;HRun=0;HaplotypeScore=5.5938;MQ=58.91;MQ0=0;MQRankSum=0.640;QD=11.06;ReadPosRankSum=-0.520;VQSLOD=4.8898;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,47:111:99:1257,0,1895 19 18897440 18897440 T C exonic COMP nonsynonymous SNV COMP:NM_000095:exon11:c.A1156G:p.N386D 0.021 . 0.026 . 0.049 0.039 0.0338 0.0099 0.0156 0 0.0257 0.0449 0.0188 0.0385 0.036 0.014 0.047 . 0.033 rs61739916 . . other|Benign|Benign|Likely benign Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome|Multiple_epiphyseal_dysplasia_1|not_specified|Multiple_Epiphyseal_Dysplasia\x2c_Dominant RCV000033879.3|RCV000055747.1|RCV000242913.1|RCV000317324.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen|MedGen C0410538:177170:ORPHA750:22567005|C1838280:132400:ORPHA93308|CN169374|CN043640 . . . . . . 0.003 0.682 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 U 1 0.810 D 4.155 0.977 H -5.85 0.994 D -4.79 0.806 D 0.137 0.280 0.182 0.856 D 0.929 0.977 D . . . 4.758 0.638 24.7 0.998 0.842 0.995 0.964 D c 0.669 0.484 1.000 0.747 0.598 0.340 0 3.35 0.373 7.881 0.856 0.935 0.490 1.000 0.715 0.791 0.333 10.717 0.450 . . . 0.0330 0.0085 0.0169 0.0306 5.8e-05 0.0292 0.0462 0.0332 0.0366 0.0306 0.0089 0.0192 0.0232 0 0.0327 0.0469 0.0286 het 718.72 85 19 18897440 . T C 718.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.162;DP=85;Dels=0.00;FS=2.261;HRun=0;HaplotypeScore=2.8034;MQ=58.67;MQ0=0;MQRankSum=-0.542;QD=8.46;ReadPosRankSum=-0.169;VQSLOD=5.3286;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,35:85:99:749,0,1464 19 19017862 19017862 G A exonic COPE nonsynonymous SNV COPE:NM_001330469:exon4:c.C350T:p.T117I,COPE:NM_007263:exon4:c.C350T:p.T117I,COPE:NM_199444:exon4:c.C350T:p.T117I 0.21 0.41 0.12 0.075 0.13 0.2 0.1906 0.4123 0.1802 0.0906 0.1189 0.1597 0.1863 0.2218 0.2 0.36 0.12 0.24 0.09 rs10330 . . . . . . . . . . . . . 0.401 0.105 T 0.408 0.365 B 0.09 0.319 B 0.000 0.843 D 0.000 0.810 P 2.67 0.784 M 0.91 0.449 T -1.88 0.463 N 0.267 0.324 -0.928 0.444 T 0.000 0.000 T . . . 2.433 0.354 19.04 0.983 0.399 0.963 0.682 D c 0.128 0.220 1.000 0.747 0.707 0.730 0 4.76 0.600 5.364 0.656 1.048 0.713 1.000 0.715 0.999 0.750 16.346 0.829 Tetratricopeptide-like helical domain . . 0.1312 0.3621 0.1109 0.1071 0.0641 0.0658 0.1180 0.1239 0.1847 0.1762 0.3473 0.1364 0.0993 0.0602 0.0642 0.1220 0.1311 het 291.10 41 19 19017862 . G A 291.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.504;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9523;MQ=58.47;MQ0=0;MQRankSum=-0.663;QD=7.10;ReadPosRankSum=1.015;VQSLOD=4.8722;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,15:41:99:321,0,739 19 19023853 19023853 T C exonic COPE synonymous SNV COPE:NM_001330469:exon2:c.A129G:p.L43L,COPE:NM_007263:exon2:c.A129G:p.L43L,COPE:NM_199442:exon2:c.A129G:p.L43L,COPE:NM_199444:exon2:c.A129G:p.L43L 0.35 0.32 0.58 0.19 0.49 0.24 0.4445 0.3583 0.6059 0.2149 0.4446 0.4957 0.4612 0.2998 0.44 0.36 0.48 0.38 0.53 rs3177137 COSM1178458 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4538 0.3632 0.6016 0.6013 0.2173 0.4328 0.4877 0.5022 0.3052 0.4295 0.3775 0.5754 0.6424 0.2033 0.4501 0.4651 0.4602 het 939.42 101 19 19023853 . T C 939.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.537;DP=101;Dels=0.00;FS=0.773;HRun=0;HaplotypeScore=2.4982;MQ=58.61;MQ0=0;MQRankSum=1.154;QD=9.30;ReadPosRankSum=-0.224;VQSLOD=6.2164;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,42:101:99:969,0,1571 19 19040312 19040312 G C exonic HOMER3 nonsynonymous SNV HOMER3:NM_001145724:exon8:c.C918G:p.S306R,HOMER3:NM_001145721:exon10:c.C1017G:p.S339R,HOMER3:NM_001145722:exon10:c.C1026G:p.S342R,HOMER3:NM_004838:exon10:c.C1026G:p.S342R 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.99 0.44 rs1059240 COSM5828825;COSM3756515 1(thyroid);23(upper_aerodigestive_tract);3(large_intestine) . . . . . . . . . . . 0.174 0.226 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.186 P -1.5 0.005 N 2.36 0.161 T 1.96 0.004 N 0.086 0.165 -1.055 0.130 T 0.000 0.000 T . . . 1.427 0.234 12.93 0.969 0.309 0.064 0.123 N c -0.847 -0.730 0.709 0.228 0.672 0.522 0 1.51 0.220 1.656 0.367 0.026 0.148 1.000 0.715 0.805 0.338 5.204 0.145 . . . 1.0000 1 1.0000 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 257.70 12 19 19040312 . G C 257.70 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=21.47;VQSLOD=12.1907;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:21.07:291,21,0 19 19049198 19049198 G A exonic HOMER3 synonymous SNV HOMER3:NM_001145724:exon3:c.C267T:p.Y89Y,HOMER3:NM_001145721:exon4:c.C267T:p.Y89Y,HOMER3:NM_001145722:exon4:c.C267T:p.Y89Y,HOMER3:NM_004838:exon4:c.C267T:p.Y89Y 0.28 0.11 0.52 0.17 0.44 0.29 0.3857 0.1450 0.5512 0.1855 0.3790 0.4343 0.3778 0.3328 0.34 0.15 0.44 0.18 0.35 rs1064351 COSM4131487;COSM5619328 1(breast);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3960 0.1447 0.5484 0.5114 0.1831 0.3637 0.4299 0.4276 0.3322 0.3245 0.1517 0.5155 0.4934 0.1725 0.3695 0.4126 0.3977 het 2108.79 164 19 19049198 . G A 2108.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.501;DP=164;Dels=0.00;FS=4.616;HRun=0;HaplotypeScore=5.5196;MQ=58.95;MQ0=0;MQRankSum=0.810;QD=12.86;ReadPosRankSum=0.487;VQSLOD=5.1371;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:87,77:164:99:2139,0,2140 19 19136541 19136541 C T exonic SUGP2 nonsynonymous SNV SUGP2:NM_001017392:exon3:c.G616A:p.G206S,SUGP2:NM_001321697:exon3:c.G616A:p.G206S,SUGP2:NM_001321698:exon3:c.G658A:p.G220S,SUGP2:NM_001321699:exon3:c.G658A:p.G220S,SUGP2:NM_014884:exon3:c.G616A:p.G206S 0.79 0.74 0.8 0.88 0.77 0.77 0.7552 0.7017 0.7897 0.8863 0.7147 0.7462 0.7285 0.7497 0.72 0.69 0.74 0.62 0.77 rs4808907 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.031 0.252 N 1 0.090 P -0.805 0.016 N 3.11 0.083 T 0.31 0.040 N 0.011 0.034 -1.069 0.097 T 0.000 0.000 T . . . -1.044 0.030 0.013 0.267 0.013 0.007 0.030 N c -1.511 -1.466 0.708 0.228 0.707 0.730 0 -0.724 0.106 -0.080 0.112 -0.256 0.089 0.000 0.063 0.014 0.122 8.138 0.301 . ENSG00000064545.10|ENSG00000064545.10|ENSG00000064545.10|ENSG00000181035.9|ENSG00000064545.10|ENSG00000105676.9|ENSG00000064545.10 Artery_Tibial|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Testis|Thyroid 0.7564 0.6998 0.7978 0.7509 0.8801 0.7195 0.7424 0.7570 0.7488 0.7303 0.6938 0.7852 0.7848 0.8764 0.7287 0.7305 0.7526 hom 3798.07 116 19 19136541 . C T 3798.07 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.59;MQ0=0;QD=32.74;VQSLOD=9.9097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3798,301,0 19 19230868 19230868 A G exonic TMEM161A synonymous SNV TMEM161A:NM_001256766:exon10:c.T1002C:p.A334A,TMEM161A:NM_017814:exon12:c.T1311C:p.A437A 0.88 0.89 0.88 0.92 0.85 0.85 0.8401 0.8635 0.8353 0.9125 0.7708 0.8327 0.8067 0.8378 0.84 0.87 0.83 0.76 0.5 rs756791 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8350 0.8625 0.8349 0.8434 0.9132 0.7716 0.8295 0.8425 0.8365 0.8368 0.8587 0.8413 0.8742 0.9110 0.7799 0.8292 0.8241 hom 440.82 16 19 19230868 . A G 440.82 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.55;VQSLOD=12.6992;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:36.11:474,36,0 19 19446936 19446936 G A exonic MAU2 synonymous SNV MAU2:NM_015329:exon3:c.G300A:p.P100P 0.53 0.35 0.54 0.67 0.68 0.45 0.6074 0.3725 0.5512 0.6893 0.7514 0.6553 0.6311 0.4907 0.58 0.4 0.67 0.43 0.67 rs769267 COSM4418959 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6168 0.3720 0.5597 0.6431 0.6808 0.7556 0.6596 0.6307 0.4975 0.5947 0.3755 0.5706 0.6093 0.6627 0.7523 0.6761 0.6375 hom 2925.25 97 19 19446936 . G A 2925.25 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7902;MQ=59.10;MQ0=0;QD=30.16;VQSLOD=7.7704;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2958,232,0 19 19449686 19449686 G T exonic MAU2 synonymous SNV MAU2:NM_015329:exon5:c.G489T:p.S163S 0.52 0.35 0.54 0.67 0.67 0.45 0.6041 0.3769 0.5488 0.6909 0.7510 0.6475 0.6281 0.4949 0.57 0.4 0.66 0.43 0.67 rs2074090 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6100 0.3705 0.5541 0.6414 0.6811 0.7512 0.6489 0.6230 0.4951 0.5897 0.3739 0.5612 0.6093 0.6648 0.7484 0.6682 0.6345 hom 987.39 34 19 19449686 . G T 987.39 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=29.04;VQSLOD=8.7870;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:78.25:1020,78,0 19 19735257 19735257 G T exonic LPAR2 synonymous SNV LPAR2:NM_004720:exon3:c.C864A:p.S288S 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.97 1. rs1266503 COSM4594903 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 3620.79 113 19 19735257 . G T 3620.79 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5557;MQ=59.24;MQ0=0;QD=32.04;VQSLOD=7.6239;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3620,298,0 19 19741292 19741292 C G exonic GMIP nonsynonymous SNV GMIP:NM_001288998:exon19:c.G2440C:p.G814R,GMIP:NM_001288999:exon19:c.G2449C:p.G817R,GMIP:NM_016573:exon20:c.G2527C:p.G843R 0.0018 . . . 0.0089 . 0.0048 0.0011 0.0045 0 0.0044 0.0072 0.0055 0.0006 0.0057 0.002 0.0076 . . rs138816376 . . . . . . . . . . . . . 0.455 0.088 T 0.002 0.090 B 0.002 0.063 B 0.827 0.069 N 1 0.090 N 1.1 0.281 L 2.05 0.207 T 0.25 0.045 N 0.119 0.132 -1.007 0.279 T 0.024 0.100 T 0.003 0.062 T 1.342 0.225 12.49 0.837 0.144 0.134 0.176 N c -0.800 -0.755 0.122 0.169 0.672 0.522 0 2.88 0.325 0.082 0.146 0.932 0.445 0.000 0.063 0.015 0.124 7.437 0.262 . . . 0.0049 0.0008 0.0036 0.0003 0 0.0033 0.0084 0.0053 0.0007 0.0060 0.0011 0.0060 0 0 0.0046 0.0102 0.0031 het 1472.92 142 19 19741292 . C G 1472.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.144;DP=142;Dels=0.00;FS=0.622;HRun=0;HaplotypeScore=1.9461;MQ=60.00;MQ0=0;MQRankSum=0.081;QD=10.37;ReadPosRankSum=-0.308;VQSLOD=4.6845;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,67:142:99:1503,0,1865 19 19823270 19823270 T A exonic ZNF14 nonsynonymous SNV ZNF14:NM_021030:exon4:c.A820T:p.T274S 0.18 0.026 0.17 0.26 0.24 0.26 0.2370 0.0469 0.1908 0.2593 0.3204 0.2507 0.2450 0.2866 0.19 0.056 0.26 0.087 0.25 rs12973901 COSM3756527 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.029 0.457 D 0.077 0.228 B 0.026 0.195 B . . . 0.985 0.247 P 0.725 0.188 N 1.87 0.241 T -3.01 0.625 D 0.061 0.045 -0.984 0.341 T 0.000 0.000 T . . . 3.670 0.498 23.3 0.977 0.349 0.056 0.114 N c -0.557 -0.563 0.940 0.274 0.563 0.310 0 1.8 0.240 3.209 0.506 0.346 0.273 1.000 0.715 0.904 0.383 7.228 0.250 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000105708.8 Artery_Tibial 0.2372 0.0433 0.1842 0.1613 0.2593 0.3246 0.2545 0.2162 0.2808 0.2181 0.0517 0.1663 0.1656 0.2831 0.3208 0.2847 0.2684 het 1125.48 107 19 19823270 . T A 1125.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.203;DP=107;Dels=0.00;FS=0.739;HRun=0;HaplotypeScore=6.6542;MQ=59.08;MQ0=0;MQRankSum=1.491;QD=10.52;ReadPosRankSum=-0.587;VQSLOD=4.4106;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,44:107:99:1155,0,1514 19 20044886 20044886 T C exonic ZNF93 synonymous SNV ZNF93:NM_031218:exon4:c.T1122C:p.C374C 0.12 0.25 0.045 0.051 0.044 0.14 0.0667 0.2269 0.0245 0.0531 0.0136 0.0353 0.0355 0.1526 0.093 0.21 0.033 0.098 0.033 rs10401345 COSM148541 1(breast);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0602 0.2365 0.0253 0.0388 0.0515 0.0137 0.0356 0.0390 0.1480 0.0830 0.2221 0.0301 0.0265 0.0439 0.0129 0.0287 0.0502 het 1475.63 137 19 20044886 . T C 1475.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.961;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4147;MQ=59.46;MQ0=0;MQRankSum=-0.279;QD=10.77;ReadPosRankSum=0.693;VQSLOD=4.0647;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,58:137:99:1506,0,2143 19 20807177 20807177 - A exonic ZNF626 frameshift insertion ZNF626:NM_001076675:exon4:c.1505dupT:p.I503Hfs*94 0.73 0.5 0.84 0.8 0.87 0.75 0.2902 0.2401 0.2684 0.2491 0.2357 0.3080 0.3773 0.3360 . . . . . rs71174721 COSM1391935 1(skin);5(large_intestine);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4260 0.2799 0.4626 0.5240 0.3474 0.6290 0.4037 0.4175 0.4122 0.7506 0.5769 0.8082 0.8105 0.7929 0.7899 0.8373 0.7873 hom 2955.07 70 19 20807177 . G GA 2955.07 Mask AC=2;AF=1.00;AN=2;DP=70;FS=0.000;HRun=1;HaplotypeScore=348.4313;MQ=50.94;MQ0=2;QD=38.38;set=variant2 GT:AD:DP:GQ:PL 1/1:5,72:70:99:2997,202,0 19 20807185 20807185 C T exonic ZNF626 nonsynonymous SNV ZNF626:NM_001076675:exon4:c.G1498A:p.E500K 0.74 0.52 0.85 0.81 0.88 0.77 0.1890 0.1647 0.1495 0.1554 0.1359 0.1992 0.2465 0.2360 0.59 0.35 0.71 . 0.52 rs10408597 COSM439062 1(pancreas);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.182 P -0.995 0.012 N 3.2 0.073 T . . . 0.013 0.002 -0.949 0.412 T 0.000 0.000 T . . . -0.344 0.065 0.525 0.075 0.000 0.002 0.014 N c -2.038 -2.036 0.000 0.012 0.651 0.465 0 0.832 0.179 -0.780 0.047 -0.687 0.038 0.000 0.063 0.002 0.062 2.279 0.038 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.3346 0.2096 0.3717 0.4285 0.2795 0.5613 0.3001 0.3378 0.3253 0.7486 0.5756 0.7943 0.8120 0.7901 0.7868 0.8362 0.7886 hom 2257.03 75 19 20807185 . C T 2257.03 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=48.16;MQ0=2;QD=30.09;VQSLOD=6.3304;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2290,196,0 19 20807352 20807352 C T exonic ZNF626 nonsynonymous SNV ZNF626:NM_001076675:exon4:c.G1331A:p.R444K 0.78 0.58 0.88 0.84 0.89 0.8 0.8346 0.5833 0.8798 0.8386 0.8430 0.8691 0.8211 0.7965 0.79 0.63 0.87 0.054 0.82 rs62107361 COSM4131519 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.002 0.063 B . . . 1.000 0.090 P -0.035 0.050 N 2.27 0.174 T . . . 0.009 0.001 -0.944 0.420 T 0.000 0.000 T . . . -0.952 0.034 0.020 0.222 0.009 0.006 0.027 N c -2.042 -2.098 0.000 0.012 0.554 0.246 0 -0.477 0.114 -2.034 0.015 -1.635 0.008 0.000 0.063 0.001 0.043 2.727 0.049 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000188171.10|ENSG00000188171.10|ENSG00000188171.10|ENSG00000268560.1 Adipose_Subcutaneous|Testis|Thyroid|Thyroid 0.8254 0.5036 0.9037 0.8212 0.8557 0.8179 0.8769 0.8790 0.7347 0.7272 0.5185 0.8670 0.85 0.7656 0.8353 0.8169 0.7377 hom 4804.98 148 19 20807352 . C T 4804.98 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5853;MQ=52.88;MQ0=2;QD=32.47;VQSLOD=3.2979;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4804,379,0 19 20808149 20808149 A G exonic ZNF626 synonymous SNV ZNF626:NM_001076675:exon4:c.T534C:p.C178C 0.78 0.58 0.88 0.83 0.89 0.8 0.8348 0.6177 0.8752 0.8301 0.8365 0.8681 0.8274 0.8036 0.8 0.65 0.87 0.75 0.76 rs1991528 COSM4131522 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8415 0.6133 0.8778 0.8630 0.8247 0.8386 0.8719 0.8582 0.8069 0.7831 0.6035 0.8771 0.8411 0.8150 0.8411 0.8623 0.8086 hom 1780.18 63 19 20808149 . A G 1780.18 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.458;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5661;MQ=58.89;MQ0=0;MQRankSum=2.291;QD=28.26;ReadPosRankSum=0.618;VQSLOD=7.3527;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,61:63:86.59:1813,87,0 19 21299774 21299774 - ATA exonic ZNF714 nonframeshift insertion ZNF714:NM_182515:exon5:c.304_305insATA:p.Y102_E103insN 0.84 0.7 0.89 0.86 0.93 0.89 0.8968 0.7443 0.8505 0.8755 0.9381 0.9295 0.9251 0.8818 0.86 0.74 0.92 0.076 . rs57999210 COSM4603567;COSM4603568 22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8985 0.7448 0.8491 0.9632 0.8783 0.9402 0.9270 0.9249 0.8809 0.8764 0.7457 0.8765 0.9633 0.8913 0.9379 0.9318 0.9201 hom 3868.99 61 19 21299774 . T TATA 3868.99 Mask AC=2;AF=1.00;AN=2;DP=61;FS=0.000;HRun=0;HaplotypeScore=160.6085;MQ=57.71;MQ0=0;QD=61.41;set=variant2 GT:AD:DP:GQ:PL 1/1:7,56:61:99:3869,172,0 19 21300462 21300462 A G exonic ZNF714 nonsynonymous SNV ZNF714:NM_182515:exon5:c.A992G:p.K331R 0.67 0.2 0.81 0.86 0.82 0.85 0.7877 0.3076 0.7890 0.8788 0.77 0.8354 0.8022 0.8322 0.68 0.35 0.84 0.61 . rs2884554 COSM3756538;COSM3756539 1(large_intestine) . . . . . . . . . . . . . . 0.999 0.764 D 0.969 0.703 D . . . 1.000 0.189 P -0.275 0.037 N . . . . . . 0.164 0.198 -0.967 0.379 T 0.000 0.000 T . . . 1.612 0.255 13.92 0.997 0.786 0.032 0.082 N c -0.348 -0.509 0.002 0.091 0.632 0.406 0 0.955 0.186 1.551 0.356 0.475 0.278 0.029 0.202 0.287 0.235 4.700 0.121 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000160352.11|ENSG00000160352.11|ENSG00000160352.11|ENSG00000196705.4 Adipose_Subcutaneous|Esophagus_Muscularis|Nerve_Tibial|Pancreas 0.7934 0.2845 0.7841 0.8848 0.8796 0.7727 0.8355 0.8255 0.8310 0.6868 0.3119 0.8062 0.8874 0.8897 0.7788 0.8429 0.8010 hom 3995.60 128 19 21300462 . A G 3995.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.947;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6567;MQ=59.16;MQ0=0;MQRankSum=1.651;QD=31.22;ReadPosRankSum=-0.271;VQSLOD=6.9613;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,127:128:99:3962,271,0 19 21477403 21477403 T G exonic ZNF708 nonsynonymous SNV ZNF708:NM_001297561:exon3:c.A173C:p.K58T,ZNF708:NM_001297560:exon4:c.A173C:p.K58T,ZNF708:NM_021269:exon4:c.A365C:p.K122T 0.098 0.065 0.1 0.0069 0.2 0.13 0.1589 0.0929 0.0971 0.0034 0.1724 0.2039 0.1377 0.1392 0.17 0.097 0.21 0.12 0.13 rs1781872 COSM5019446 9(soft_tissue) . . . . . . . . . . . 0.026 0.469 D 0.686 0.396 P 0.178 0.341 B . . . 1 0.090 P 1.455 0.369 L 3.27 0.066 T -4.35 0.769 D 0.102 0.106 -1.025 0.222 T 0.000 0.000 T . . . 0.112 0.104 3.739 0.965 0.295 0.003 0.015 N c -0.645 -0.913 0.000 0.012 0.707 0.730 0 -0.782 0.104 -0.200 0.094 0.599 0.287 0.000 0.063 0.003 0.074 4.627 0.118 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000268555.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000196268.7|ENSG00000268081.1|ENSG00000182141.5|ENSG00000268658.1|ENSG00000268081.1|ENSG00000196268.7|ENSG00000182141.5|ENSG00000268119.1|ENSG00000268658.1|ENSG00000268081.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000268555.1|ENSG00000268081.1|ENSG00000182141.5|ENSG00000196268.7|ENSG00000268119.1|ENSG00000213976.3|ENSG00000268119.1|ENSG00000182141.5|ENSG00000182141.5|ENSG00000268081.1|ENSG00000268555.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000268081.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000268081.1|ENSG00000182141.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1576 0.0880 0.0969 0.1332 0.0031 0.1741 0.2133 0.1673 0.1367 0.1561 0.1010 0.1062 0.1457 0.0018 0.1761 0.2038 0.1483 het 2579.21 233 19 21477403 . T G 2579.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.614;DP=233;Dels=0.00;FS=3.661;HRun=0;HaplotypeScore=9.1690;MQ=58.92;MQ0=0;MQRankSum=0.290;QD=11.07;ReadPosRankSum=-0.120;VQSLOD=3.7194;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,106:233:99:2609,0,3148 19 21477431 21477431 T C exonic ZNF708 nonsynonymous SNV ZNF708:NM_001297561:exon3:c.A145G:p.K49E,ZNF708:NM_001297560:exon4:c.A145G:p.K49E,ZNF708:NM_021269:exon4:c.A337G:p.K113E 0.62 0.74 0.56 0.63 0.51 0.6 0.5569 0.7096 0.5249 0.6229 0.4920 0.5284 0.5650 0.5890 0.58 0.71 0.52 0.58 0.52 rs1781873 COSM4000604 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.301 0.144 T 0.004 0.112 B 0.008 0.127 B . . . 1 0.090 P 0.375 0.121 N 3.33 0.062 T -1.26 0.318 N 0.058 0.041 -1.073 0.087 T 0.000 0.000 T . . . -1.501 0.017 0.003 0.304 0.017 0.002 0.009 N c -1.485 -1.557 0.000 0.012 0.707 0.730 0 -0.564 0.111 -0.138 0.103 -0.333 0.074 0.000 0.063 0.003 0.074 3.212 0.062 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000268555.1|ENSG00000268081.1|ENSG00000172687.9|ENSG00000197013.5|ENSG00000268119.1|ENSG00000268658.1|ENSG00000268119.1|ENSG00000268081.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000196268.7|ENSG00000268119.1|ENSG00000268433.1|ENSG00000268119.1|ENSG00000268081.1|ENSG00000172687.9|ENSG00000196268.7|ENSG00000268119.1|ENSG00000172687.9|ENSG00000172687.9|ENSG00000172687.9|ENSG00000268433.1|ENSG00000268555.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000268658.1|ENSG00000268081.1|ENSG00000172687.9|ENSG00000196268.7|ENSG00000268119.1|ENSG00000268119.1|ENSG00000268119.1|ENSG00000268119.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000268658.1|ENSG00000268119.1|ENSG00000196268.7|ENSG00000268555.1|ENSG00000268081.1|ENSG00000268119.1|ENSG00000268433.1|ENSG00000268555.1|ENSG00000268081.1|ENSG00000197013.5|ENSG00000268119.1|ENSG00000268278.1|ENSG00000198521.7|ENSG00000268081.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000268658.1|ENSG00000196268.7|ENSG00000172687.9|ENSG00000268119.1|ENSG00000268119.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000196268.7|ENSG00000268081.1|ENSG00000268119.1|ENSG00000268555.1|ENSG00000268081.1|ENSG00000268416.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000196268.7|ENSG00000172687.9|ENSG00000268119.1|ENSG00000213976.3|ENSG00000268081.1|ENSG00000172687.9|ENSG00000182141.5|ENSG00000196268.7|ENSG00000268119.1|ENSG00000268433.1|ENSG00000268119.1|ENSG00000268555.1|ENSG00000268081.1|ENSG00000197020.6|ENSG00000182141.5|ENSG00000268433.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.5521 0.7182 0.5348 0.6305 0.6161 0.4899 0.5191 0.5553 0.5917 0.5858 0.7120 0.5477 0.6026 0.6295 0.5152 0.5291 0.5367 het 2860.79 207 19 21477431 . T C 2860.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.757;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6605;MQ=58.97;MQ0=0;MQRankSum=1.916;QD=13.82;ReadPosRankSum=-1.317;VQSLOD=5.2383;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,114:207:99:2891,0,2316 19 21492062 21492062 G A exonic ZNF708 nonsynonymous SNV ZNF708:NM_001297561:exon2:c.C20T:p.A7V,ZNF708:NM_001297560:exon3:c.C20T:p.A7V,ZNF708:NM_021269:exon3:c.C212T:p.A71V 0.9 0.98 0.85 0.74 0.97 0.92 0.9313 0.9701 0.7904 0.7303 0.9625 0.9748 0.9515 0.9215 0.97 0.97 0.98 0.91 0.96 rs547516 COSM4000605 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.09 0.002 N 3.29 0.065 T 3.25 0.001 N 0.023 0.006 -1.002 0.294 T 0.000 0.000 T . . . -1.053 0.030 0.012 0.118 0.002 0.000 0.001 N c -1.776 -1.803 0.660 0.222 0.615 0.372 0 0.225 0.145 -0.854 0.044 -0.092 0.117 0.000 0.063 0.000 0.016 . . Krueppel-associated box ENSG00000213976.3 Nerve_Tibial 0.9265 0.9694 0.8060 0.9885 0.7276 0.9580 0.9748 0.9474 0.9229 0.9561 0.9691 0.8461 0.9934 0.7373 0.9657 0.9759 0.9481 hom 7523.60 250 19 21492062 . G A 7523.60 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2341;MQ=57.72;MQ0=0;QD=30.09;VQSLOD=5.1040;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:250:99:7496,605,0 19 21606429 21606429 G T exonic ZNF493 nonsynonymous SNV ZNF493:NM_175910:exon2:c.G584T:p.C195F,ZNF493:NM_001076678:exon4:c.G968T:p.C323F 0.59 0.66 0.55 0.63 0.5 0.56 0.5360 0.6312 0.5133 0.6224 0.4600 0.5169 0.5446 0.5573 0.55 0.63 0.52 0.51 0.36 rs4621113 COSM4000606;COSM4000607 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.011 0.599 D 1.0 0.899 D 1.0 0.971 D . . . 0.434 0.322 P 4.28 0.982 H -1.94 0.849 D -9.25 0.984 D 0.099 0.101 -0.915 0.462 T 0.000 0.000 T . . . 2.691 0.385 20.8 0.862 0.158 0.317 0.242 N c 0.262 -0.046 0.102 0.164 0.638 0.428 0 0.985 0.188 3.601 0.536 0.317 0.271 0.984 0.356 0.006 0.095 8.758 0.336 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000268555.1|ENSG00000268081.1|ENSG00000172687.9|ENSG00000197013.5|ENSG00000268119.1|ENSG00000268658.1|ENSG00000268119.1|ENSG00000268081.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000196268.7|ENSG00000268119.1|ENSG00000268433.1|ENSG00000268119.1|ENSG00000268081.1|ENSG00000172687.9|ENSG00000196268.7|ENSG00000268119.1|ENSG00000172687.9|ENSG00000172687.9|ENSG00000268433.1|ENSG00000268658.1|ENSG00000268555.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000268658.1|ENSG00000268081.1|ENSG00000197013.5|ENSG00000196268.7|ENSG00000268119.1|ENSG00000268119.1|ENSG00000268119.1|ENSG00000268119.1|ENSG00000268081.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000268433.1|ENSG00000268119.1|ENSG00000196268.7|ENSG00000268555.1|ENSG00000268081.1|ENSG00000268119.1|ENSG00000268433.1|ENSG00000268555.1|ENSG00000268081.1|ENSG00000197020.6|ENSG00000197013.5|ENSG00000182141.5|ENSG00000268119.1|ENSG00000268278.1|ENSG00000198521.7|ENSG00000268555.1|ENSG00000268081.1|ENSG00000197020.6|ENSG00000197013.5|ENSG00000268119.1|ENSG00000268658.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000268433.1|ENSG00000268119.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000196268.7|ENSG00000268081.1|ENSG00000268119.1|ENSG00000268555.1|ENSG00000268081.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000196268.7|ENSG00000172687.9|ENSG00000268119.1|ENSG00000213976.3|ENSG00000268081.1|ENSG00000172687.9|ENSG00000268119.1|ENSG00000268433.1|ENSG00000268119.1|ENSG00000268555.1|ENSG00000268081.1|ENSG00000197020.6|ENSG00000197013.5|ENSG00000182141.5|ENSG00000268119.1|ENSG00000268433.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Hypothalamus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.5323 0.6299 0.5222 0.5975 0.6170 0.4583 0.51 0.5335 0.5609 0.5495 0.6202 0.5346 0.5733 0.6343 0.4794 0.5178 0.5237 het 492.39 45 19 21606429 . G T 492.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.941;DP=45;Dels=0.00;FS=1.204;HRun=1;HaplotypeScore=0.9979;MQ=58.49;MQ0=0;MQRankSum=1.896;QD=10.94;ReadPosRankSum=-0.443;VQSLOD=5.0443;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,22:45:99:522,0,632 19 21606719 21606719 C G exonic ZNF493 nonsynonymous SNV ZNF493:NM_175910:exon2:c.C874G:p.L292V,ZNF493:NM_001076678:exon4:c.C1258G:p.L420V 0.09 0.039 0.1 0.018 0.2 0.11 0.1555 0.0661 0.0944 0.0043 0.1735 0.2054 0.1393 0.1224 0.16 0.066 0.2 0.14 0.13 rs10414834 . . . . . . . . . . . . . 0.016 0.555 D 0.881 0.465 P 0.669 0.525 P . . . 1 0.090 P 2.97 0.856 M 0.64 0.529 T -2.79 0.590 D 0.076 0.069 -1.095 0.048 T 0.000 0.001 T . . . 2.961 0.416 22.1 0.979 0.365 0.289 0.235 N c -0.168 -0.452 0.000 0.029 0.638 0.428 0 1.03 0.191 0.656 0.245 0.277 0.269 0.303 0.251 0.003 0.074 5.101 0.140 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000268555.1|ENSG00000268081.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000268119.1|ENSG00000268119.1|ENSG00000196268.7|ENSG00000268081.1|ENSG00000182141.5|ENSG00000268555.1|ENSG00000268658.1|ENSG00000268081.1|ENSG00000196268.7|ENSG00000268119.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000182141.5|ENSG00000213976.3|ENSG00000268119.1|ENSG00000268555.1|ENSG00000268081.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000268278.1|ENSG00000268555.1|ENSG00000213976.3|ENSG00000268119.1|ENSG00000182141.5|ENSG00000182141.5|ENSG00000268081.1|ENSG00000268555.1|ENSG00000182141.5|ENSG00000268119.1|ENSG00000268081.1|ENSG00000182141.5|ENSG00000213976.3|ENSG00000268119.1|ENSG00000268081.1|ENSG00000182141.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1526 0.0590 0.0942 0.1321 0.0034 0.1748 0.2121 0.1657 0.1211 0.1474 0.0691 0.1007 0.1457 0.0019 0.1764 0.2042 0.1554 het 873.31 93 19 21606719 . C G 873.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.715;DP=93;Dels=0.00;FS=6.912;HRun=0;HaplotypeScore=1.8920;MQ=59.50;MQ0=0;MQRankSum=1.106;QD=9.39;ReadPosRankSum=-0.889;VQSLOD=3.9653;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,40:93:99:903,0,1529 19 21719401 21719401 T C exonic ZNF429 synonymous SNV ZNF429:NM_001346916:exon3:c.T354C:p.F118F,ZNF429:NM_001001415:exon4:c.T546C:p.F182F,ZNF429:NM_001346912:exon4:c.T540C:p.F180F,ZNF429:NM_001346914:exon4:c.T450C:p.F150F,ZNF429:NM_001346913:exon5:c.T450C:p.F150F,ZNF429:NM_001346915:exon5:c.T450C:p.F150F 0.56 0.48 0.53 0.64 0.54 0.62 0.5514 0.4704 0.5003 0.6098 0.5212 0.5526 0.5521 0.6129 0.53 0.47 0.56 0.47 0.39 rs35782355 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5499 0.4725 0.5120 0.5916 0.6059 0.5186 0.5481 0.5422 0.6157 0.5348 0.4703 0.5382 0.5762 0.6261 0.5338 0.5596 0.5682 het 757.52 55 19 21719401 . T C 757.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.385;DP=55;Dels=0.00;FS=5.479;HRun=0;HaplotypeScore=3.1965;MQ=58.52;MQ0=0;MQRankSum=0.244;QD=13.77;ReadPosRankSum=0.362;VQSLOD=4.5130;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,26:55:99:788,0,841 19 22154732 22154732 T C exonic ZNF208 nonsynonymous SNV ZNF208:NM_007153:exon4:c.A3104G:p.D1035G 0.57 0.62 0.63 0.69 0.57 0.34 0.5556 0.6047 0.6540 0.6909 0.5695 0.5595 0.5056 0.3720 0.59 0.63 0.56 0.6 . rs8108957 COSM3756545;COSM3756547;COSM3756546 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B . . . 1.000 0.186 P 0.02 0.080 N 3.19 0.074 T 3.92 0.001 N 0.111 0.120 -0.977 0.358 T 0.000 0.000 T . . . -1.646 0.014 0.002 0.082 0.001 0.017 0.054 N c -1.304 -1.404 0.000 0.012 0.487 0.133 0 -2.26 0.064 0.253 0.179 -0.230 0.094 0.006 0.172 0.002 0.062 4.859 0.128 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000197134.7|ENSG00000160321.10|ENSG00000160321.10|ENSG00000269615.1|ENSG00000197134.7|ENSG00000160321.10|ENSG00000160321.10|ENSG00000197134.7|ENSG00000160321.10|ENSG00000269615.1|ENSG00000160321.10|ENSG00000269615.1|ENSG00000197134.7|ENSG00000160321.10|ENSG00000269615.1|ENSG00000197134.7|ENSG00000160321.10|ENSG00000269615.1|ENSG00000197134.7 Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Pancreas|Thyroid|Thyroid|Thyroid 0.5602 0.6108 0.6452 0.4307 0.6942 0.5687 0.5705 0.5337 0.3721 0.5961 0.6257 0.6352 0.4367 0.7241 0.5635 0.5753 0.5777 het 2260.37 164 19 22154732 . T C 2260.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.412;DP=164;Dels=0.00;FS=2.034;HRun=1;HaplotypeScore=6.2310;MQ=57.49;MQ0=0;MQRankSum=0.331;QD=13.78;ReadPosRankSum=0.617;VQSLOD=3.7336;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:74,88:164:99:2290,0,1902 19 22156992 22156992 C T exonic ZNF208 nonsynonymous SNV ZNF208:NM_007153:exon4:c.G844A:p.E282K 0.57 0.62 0.63 0.69 0.57 0.33 0.5538 0.6208 0.6515 0.6895 0.5640 0.5563 0.5056 0.3649 0.58 0.64 0.56 0.64 . rs2007506 COSM3756556;COSM3756554;COSM3756555 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.037 0.430 D 0.998 0.715 D 0.863 0.596 P . . . 0.964 0.260 P 1.505 0.383 L 1.86 0.243 T -2.53 0.548 D 0.076 0.067 -0.983 0.343 T 0.000 0.000 T . . . 1.457 0.238 13.09 0.988 0.452 0.026 0.071 N c -0.393 -0.641 0.000 0.012 0.487 0.133 0 1.8 0.240 0.522 0.225 0.447 0.277 0.000 0.063 0.007 0.100 6.772 0.226 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000197134.7|ENSG00000160321.10|ENSG00000160321.10|ENSG00000269615.1|ENSG00000197134.7|ENSG00000269615.1|ENSG00000197134.7|ENSG00000160321.10|ENSG00000160321.10|ENSG00000197134.7|ENSG00000160321.10|ENSG00000269615.1|ENSG00000160321.10|ENSG00000269615.1|ENSG00000197134.7|ENSG00000269615.1|ENSG00000160321.10|ENSG00000269615.1|ENSG00000197134.7|ENSG00000160321.10|ENSG00000269615.1|ENSG00000160321.10|ENSG00000269615.1|ENSG00000197134.7 Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.5568 0.6220 0.6443 0.4268 0.6946 0.5648 0.5647 0.5291 0.3639 0.5903 0.6240 0.6341 0.4305 0.7161 0.5596 0.5664 0.5673 het 1341.84 111 19 22156992 . C T 1341.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.194;DP=111;Dels=0.00;FS=3.562;HRun=1;HaplotypeScore=1.9765;MQ=59.34;MQ0=0;MQRankSum=-0.165;QD=12.09;ReadPosRankSum=0.787;VQSLOD=5.7109;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,46:111:99:1372,0,1832 19 22157302 22157302 G A exonic ZNF208 synonymous SNV ZNF208:NM_007153:exon4:c.C534T:p.Y178Y 0.57 0.62 0.63 0.69 0.57 0.34 0.5580 0.6197 0.6538 0.6897 0.5698 0.5619 0.5067 0.3681 0.59 0.64 0.57 0.69 . rs10419899 COSM4000616;COSM4000615;COSM4000614 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5614 0.6224 0.6459 0.4321 0.6938 0.5690 0.5716 0.5339 0.3686 0.5951 0.6267 0.6352 0.4338 0.7171 0.5635 0.5736 0.5697 het 1909.18 133 19 22157302 . G A 1909.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.212;DP=133;Dels=0.00;FS=3.253;HRun=0;HaplotypeScore=2.9870;MQ=57.81;MQ0=0;MQRankSum=-1.143;QD=14.35;ReadPosRankSum=-0.692;VQSLOD=3.6257;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,71:133:99:1939,0,1529 19 22271717 22271717 A C exonic ZNF257 nonsynonymous SNV ZNF257:NM_001316998:exon2:c.A937C:p.K313Q,ZNF257:NM_033468:exon4:c.A1165C:p.K389Q,ZNF257:NM_001316996:exon5:c.A1069C:p.K357Q,ZNF257:NM_001316997:exon5:c.A937C:p.K313Q 0.0044 0.0008 0.0058 . 0.011 0.0061 0.0103 0.0024 0.0043 0 0.0166 0.0146 0.0034 0.0050 0.011 0.0024 0.015 . . rs11666876 . . . . . . . . . . . . . . . . 0.009 0.139 B 0.023 0.188 B . . . 1 0.090 N -0.56 0.023 N 5.23 0.012 T . . . 0.026 0.008 -1.007 0.278 T 0.025 0.106 T . . . -1.356 0.020 0.004 0.277 0.014 0.029 0.076 N c -1.509 -1.544 0.000 0.012 0.487 0.133 0 -1.85 0.073 -2.058 0.015 -1.524 0.010 0.000 0.063 0.000 0.016 6.280 0.201 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0102 0.0019 0.0041 0.0117 0 0.0182 0.0145 0.0088 0.0047 0.0120 0.0029 0.0013 0.0294 0 0.0171 0.0178 0.0115 het 1045.18 68 19 22271717 . A C 1045.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.341;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.57;MQ0=0;MQRankSum=-0.055;QD=15.37;ReadPosRankSum=0.424;VQSLOD=6.3881;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,36:68:99:1075,0,854 19 22846788 22846788 C A exonic ZNF492 nonsynonymous SNV ZNF492:NM_020855:exon4:c.C317A:p.T106K 0.073 0.0053 0.12 0.14 0.056 0.075 0.0920 0.0172 0.1964 0.1565 0.0918 0.0844 0.0590 0.0724 0.051 0.012 0.069 0.076 . rs11672238 COSM3756569 2(urinary_tract);1(large_intestine) . . . . . . . . . . . 0.075 0.344 T 0.002 0.090 B 0.007 0.121 B . . . 1 0.090 P 1.645 0.421 L 1.25 0.365 T -4.77 0.804 D 0.056 0.039 -1.049 0.146 T 0.001 0.003 T . . . 0.068 0.100 3.268 0.349 0.022 0.001 0.009 N c -1.352 -1.510 0.000 0.029 0.487 0.133 0 -1.98 0.070 -3.183 0.006 0.215 0.254 0.000 0.063 0.002 0.062 4.772 0.124 . ENSG00000167232.9 Nerve_Tibial 0.0835 0.0160 0.1514 0.0186 0.1383 0.0798 0.0761 0.0679 0.0663 0.0640 0.0143 0.1504 0.0132 0.1422 0.0828 0.0740 0.0988 het 334.56 37 19 22846788 . C A 334.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.868;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.17;MQ0=0;MQRankSum=2.302;QD=9.04;ReadPosRankSum=0.548;VQSLOD=4.4520;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,14:37:99:365,0,512 19 22942325 22942325 G C exonic ZNF99 nonsynonymous SNV ZNF99:NM_001080409:exon4:c.C386G:p.A129G 0.37 0.54 0.33 0.35 0.28 0.28 0.3172 0.5091 0.3238 0.3372 0.2861 0.2971 0.2998 0.2830 0.35 0.5 0.28 0.46 . rs7255780 COSM3756572 2(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.115 0.002 N 3.24 0.069 T 1.63 0.006 N 0.112 0.121 -0.995 0.313 T 0.000 0.000 T . . . -1.238 0.024 0.006 0.266 0.013 0.001 0.006 N c -2.131 -2.096 0.000 0.012 0.487 0.133 0 -0.806 0.103 -1.663 0.021 -1.836 0.006 0.000 0.063 0.000 0.016 4.388 0.107 . ENSG00000229676.2|ENSG00000229676.2|ENSG00000261558.1|ENSG00000229676.2 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Testis|Testis 0.3125 0.5076 0.3258 0.2554 0.3354 0.2907 0.2955 0.2990 0.2845 0.3586 0.4986 0.3349 0.2649 0.3478 0.2960 0.2978 0.3320 het 413.49 79 19 22942325 . G C 413.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.394;DP=79;Dels=0.00;FS=2.349;HRun=1;HaplotypeScore=2.7327;MQ=59.47;MQ0=0;MQRankSum=-0.579;QD=5.23;ReadPosRankSum=-0.361;VQSLOD=3.7530;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,19:79:99:443,0,1628 19 23542697 23542697 G C exonic ZNF91 synonymous SNV ZNF91:NM_001300951:exon3:c.C2988G:p.G996G,ZNF91:NM_003430:exon4:c.C3084G:p.G1028G 0.43 0.4 0.51 0.19 0.62 0.5 0.5410 0.4192 0.4713 0.1854 0.6025 0.6092 0.5874 0.5457 0.54 0.43 0.6 0.47 0.62 rs1821845 COSM5654368;COSM5654369 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5392 0.4157 0.4701 0.6000 0.1848 0.6031 0.6086 0.5835 0.5491 0.5310 0.4273 0.5156 0.6167 0.1892 0.5878 0.6114 0.5789 hom 5906.60 180 19 23542697 . G C 5906.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.248;DP=180;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7256;MQ=59.62;MQ0=0;MQRankSum=1.713;QD=32.81;ReadPosRankSum=-0.977;VQSLOD=8.2312;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,178:180:99:5845,430,0 19 23545250 23545250 A G exonic ZNF91 synonymous SNV ZNF91:NM_001300951:exon3:c.T435C:p.T145T,ZNF91:NM_003430:exon4:c.T531C:p.T177T 0.38 0.27 0.48 0.16 0.6 0.47 0.5125 0.2939 0.4512 0.1604 0.6004 0.5915 0.5510 0.5133 0.49 0.29 0.58 0.39 0.52 rs1044095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5125 0.2895 0.45 0.5733 0.1595 0.5993 0.5907 0.5577 0.5156 0.4867 0.3058 0.4833 0.5960 0.1601 0.5860 0.5972 0.5642 hom 1387.99 45 19 23545250 . A G 1387.99 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.12;MQ0=0;QD=30.84;VQSLOD=8.5183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1421,117,0 19 23837145 23837145 A G exonic ZNF675 nonsynonymous SNV ZNF675:NM_138330:exon4:c.T590C:p.V197A 0.37 0.36 0.44 0.12 0.62 0.34 0.5058 0.3800 0.3602 0.1289 0.6567 0.6148 0.5159 0.3829 0.54 0.38 0.62 0.39 0.44 rs11671053 . . . . . . . . . . . . . 0.023 0.481 D 0.212 0.283 B 0.101 0.292 B . . . 0.996 0.232 P 0.8 0.197 N 2.45 0.150 T -0.86 0.234 N 0.055 0.037 -0.971 0.369 T 0.000 0.000 T . . . 0.726 0.163 8.996 0.618 0.066 0.035 0.086 N c -1.305 -1.464 0.001 0.086 0.651 0.465 0 -2.16 0.066 0.504 0.222 -0.722 0.036 0.003 0.159 0.005 0.090 5.106 0.140 . ENSG00000233836.3|ENSG00000233836.3|ENSG00000233836.3|ENSG00000233836.3|ENSG00000233836.3|ENSG00000233836.3 Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Muscularis|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5042 0.3698 0.3739 0.5233 0.1270 0.6500 0.6192 0.5430 0.3893 0.5199 0.3765 0.4151 0.5099 0.1147 0.6474 0.6204 0.5653 hom 1452.98 55 19 23837145 . A G 1452.98 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=26.42;VQSLOD=7.2730;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1486,117,0 19 23837365 23837365 A C exonic ZNF675 nonsynonymous SNV ZNF675:NM_138330:exon4:c.T370G:p.L124V 0.97 0.9 0.99 1. 1. 1. 0.9908 0.8997 0.9957 1 1 0.9998 0.9912 0.9999 0.97 0.9 1. 0.95 1. rs4380159 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.765 0.003 N 3.34 0.061 T 1.58 0.007 N 0.061 0.045 -1.008 0.276 T 0.000 0.000 T . . . -2.559 0.003 0.001 0.035 0.000 0.001 0.007 N c -1.851 -1.855 0.000 0.046 0.707 0.730 0 -0.447 0.116 -2.011 0.015 -0.830 0.030 0.000 0.063 0.034 0.151 2.564 0.045 . . . 0.9923 0.8921 0.9947 1 1 1 0.9997 0.9960 0.9997 0.9715 0.9001 1 1 1 1 0.9998 0.9919 hom 5908.58 205 19 23837365 . A C 5908.58 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5664;MQ=59.23;MQ0=0;QD=28.82;VQSLOD=8.4496;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:5908,439,0 19 23927252 23927252 C T exonic ZNF681 nonsynonymous SNV ZNF681:NM_138286:exon4:c.G1100A:p.R367K 0.98 0.92 0.99 1. 1. 1. 0.9933 0.9249 0.9965 1 1 0.9997 0.9934 0.9999 0.97 0.93 1. 0.76 . rs1818990 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P -1.455 0.005 N 2.15 0.193 T 2.66 0.002 N 0.017 0.005 -0.977 0.356 T 0.000 0.000 T . . . -1.100 0.028 0.010 0.203 0.007 0.002 0.010 N c -1.609 -1.596 0.000 0.029 0.554 0.246 0 1.64 0.228 -1.707 0.020 -0.859 0.029 0.000 0.063 0.031 0.148 1.761 0.028 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000269662.1 Thyroid 0.9933 0.9203 0.9930 0.9991 0.9971 0.9999 0.9991 0.9953 0.9981 0.9778 0.9247 1 1 1 0.9991 0.9986 0.9938 hom 8346.97 250 19 23927252 . C T 8346.97 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6624;MQ=59.69;MQ0=1;QD=33.39;VQSLOD=8.9858;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8346,659,0 19 23927468 23927468 A G exonic ZNF681 nonsynonymous SNV ZNF681:NM_138286:exon4:c.T884C:p.L295S 0.98 0.92 0.99 1. 1. 1. 0.9930 0.9245 0.9965 1 1 0.9998 0.9934 0.9999 0.97 0.92 1. 0.95 . rs1818989 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.335 0.001 N 2.68 0.124 T 4.49 0.000 N 0.017 0.009 -1.023 0.227 T 0.000 0.000 T . . . -1.106 0.028 0.010 0.131 0.002 0.000 0.003 N c -1.720 -1.665 0.000 0.029 0.554 0.283 0 1.64 0.228 -0.609 0.057 -0.862 0.028 0.000 0.063 0.001 0.043 6.017 0.187 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9943 0.9205 0.9958 1 1 1 0.9997 0.9965 0.9998 0.9786 0.9249 1 1 1 1 0.9998 0.9939 hom 5835.58 173 19 23927468 . A G 5835.58 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4538;MQ=59.03;MQ0=0;QD=33.73;VQSLOD=9.0495;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5835,457,0 19 23928102 23928102 C G exonic ZNF681 nonsynonymous SNV ZNF681:NM_138286:exon4:c.G250C:p.D84H 0.98 0.92 0.99 1. 1. 1. 0.9932 0.9256 0.9964 1 1 0.9998 0.9931 0.9999 0.98 0.93 1. 0.95 . rs7248674 . . . . . . . . . . . . . 0.014 0.531 D 0.633 0.383 P 0.38 0.421 B . . . 0.999 0.222 P 2.645 0.776 M 3.17 0.076 T -5.64 0.899 D 0.26 0.317 -1.032 0.198 T 0.000 0.000 T . . . 2.283 0.336 18.06 0.983 0.394 0.017 0.054 N c -0.439 -0.604 0.000 0.029 0.615 0.372 0 0.86 0.181 0.713 0.253 0.237 0.263 0.728 0.287 0.912 0.389 4.938 0.132 . . . 0.9938 0.9216 0.9954 1 1 1 0.9997 0.9958 0.9999 0.9785 0.9246 1 1 1 1 0.9998 0.9939 hom 1506.94 47 19 23928102 . C G 1506.94 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;QD=32.06;VQSLOD=8.6966;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1540,120,0 19 24310032 24310032 A T exonic ZNF254 nonsynonymous SNV ZNF254:NM_001278678:exon2:c.A975T:p.E325D,ZNF254:NM_001278663:exon3:c.A975T:p.E325D,ZNF254:NM_001278664:exon3:c.A1011T:p.E337D,ZNF254:NM_203282:exon4:c.A1230T:p.E410D,ZNF254:NM_001278661:exon5:c.A1107T:p.E369D,ZNF254:NM_001278662:exon5:c.A1107T:p.E369D,ZNF254:NM_001278677:exon6:c.A1107T:p.E369D 0.15 0.15 0.097 0.17 0.14 0.15 0.1493 0.1545 0.0932 0.1680 0.1835 0.1538 0.1567 0.1429 0.15 0.15 0.15 0.12 0.11 rs61737180 COSM290972 1(haematopoietic_and_lymphoid_tissue);2(prostate);1(lung);1(large_intestine) . . . . . . . . . . . 0.061 0.405 T 0.696 0.398 P 0.133 0.315 B . . . 1.000 0.208 P 1.42 0.358 L 3.18 0.075 T -2.68 0.577 D 0.036 0.129 -0.962 0.388 T 0.000 0.000 T . . . 2.311 0.339 18.24 0.986 0.432 0.006 0.027 N c -0.617 -0.775 0.000 0.063 0.651 0.465 0 -0.105 0.129 -2.680 0.009 0.362 0.273 0.000 0.063 0.146 0.204 4.062 0.093 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.1458 0.1556 0.0911 0.0954 0.1729 0.1872 0.1534 0.1485 0.1438 0.1563 0.1583 0.1038 0.1192 0.1724 0.1782 0.1524 0.1516 het 464.27 28 19 24310032 . A T 464.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.411;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9987;MQ=59.79;MQ0=0;MQRankSum=1.176;QD=16.58;ReadPosRankSum=1.646;VQSLOD=5.4364;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,17:28:99:494,0,318 19 30193721 30193721 G A exonic C19orf12 synonymous SNV C19orf12:NM_001282929:exon2:c.C132T:p.T44T,C19orf12:NM_001282930:exon2:c.C132T:p.T44T,C19orf12:NM_001031726:exon3:c.C357T:p.T119T,C19orf12:NM_001256047:exon3:c.C324T:p.T108T,C19orf12:NM_031448:exon3:c.C324T:p.T108T,C19orf12:NM_001282931:exon4:c.C132T:p.T44T 0.61 0.79 0.52 0.3 0.76 0.62 0.6670 0.7773 0.4225 0.2993 0.6486 0.7470 0.6692 0.6455 0.75 0.77 0.74 0.59 0.66 rs10424582 COSM4131598;COSM4131597 2(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Neurodegeneration_with_brain_iron_accumulation_4 RCV000116507.2|RCV000259545.1 MedGen|MedGen:OMIM:Orphanet CN169374|C3280371:614298:ORPHA289560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6560 0.7782 0.4503 0.7364 0.3026 0.6530 0.7515 0.6771 0.6441 0.7165 0.7795 0.5227 0.7285 0.2930 0.6470 0.7528 0.7082 het 1801.56 102 19 30193721 . G A 1801.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.292;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6819;MQ=60.00;MQ0=0;MQRankSum=1.184;QD=17.66;ReadPosRankSum=1.198;VQSLOD=4.5204;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,63:102:99:1832,0,969 19 30500119 30500121 TGA - exonic URI1 nonframeshift deletion URI1:NM_001252641:exon8:c.840_842del:p.D293del,URI1:NM_003796:exon8:c.894_896del:p.D311del 0.76 0.57 0.83 0.75 0.88 0.83 0.8135 0.5953 0.7759 0.7266 0.8857 0.8620 0.8211 0.7957 . . . . . rs556897562 COSM994409 1(bone);1(pancreas);1(liver);22(upper_aerodigestive_tract);6(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8196 0.5738 0.7672 0.8789 0.7146 0.8969 0.8718 0.8318 0.8027 0.8017 0.5970 0.7995 0.9 0.7309 0.9224 0.8950 0.8613 hom 1406.70 58 19 30500118 . GTGA G 1406.70 Mask AC=2;AF=1.00;AN=2;DP=58;FS=0.000;HRun=0;HaplotypeScore=244.2725;MQ=62.32;MQ0=0;QD=24.25;set=variant2 GT:AD:DP:GQ:PL 1/1:18,40:58:99:1449,123,0 19 31768416 31768416 A G exonic TSHZ3 synonymous SNV TSHZ3:NM_020856:exon2:c.T2283C:p.A761A 0.31 0.59 0.26 0.25 0.11 0.23 0.2030 0.5319 0.2606 0.2859 0.1074 0.1280 0.1927 0.2568 0.26 0.52 0.13 0.35 0.074 rs3745784 COSM4131605;COSM4131604 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1956 0.5362 0.2556 0.1646 0.2844 0.1025 0.1260 0.1840 0.2393 0.2485 0.5291 0.2446 0.1457 0.2893 0.0859 0.1270 0.1650 het 1121 92 19 31768416 . A G 1121 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.650;DP=92;Dels=0.00;FS=4.053;HRun=1;HaplotypeScore=3.9413;MQ=59.29;MQ0=0;MQRankSum=-2.185;QD=12.18;ReadPosRankSum=-0.107;VQSLOD=4.2670;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,50:92:99:1151,0,1123 19 31769763 31769763 G A exonic TSHZ3 synonymous SNV TSHZ3:NM_020856:exon2:c.C936T:p.V312V 0.35 0.24 0.31 0.57 0.3 0.36 0.3156 0.2262 0.2890 0.5702 0.3307 0.2953 0.3348 0.3327 0.27 0.23 0.29 0.22 0.23 rs12461253 COSM3756589;COSM3756590 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3177 0.2293 0.2872 0.3011 0.5654 0.3385 0.2945 0.3103 0.3316 0.2985 0.2317 0.2828 0.3079 0.5668 0.3321 0.2999 0.3184 het 1702.78 101 19 31769763 . G A 1702.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.084;DP=101;Dels=0.00;FS=7.464;HRun=1;HaplotypeScore=5.9106;MQ=58.62;MQ0=0;MQRankSum=-0.822;QD=16.86;ReadPosRankSum=-0.931;VQSLOD=3.7975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,57:101:99:1733,0,1197 19 32873698 32873698 A G exonic ZNF507 synonymous SNV ZNF507:NM_014910:exon6:c.A2571G:p.S857S,ZNF507:NM_001136156:exon7:c.A2571G:p.S857S 0.91 1. 0.92 0.82 0.91 0.89 0.8988 0.9825 0.9365 0.8173 0.8911 0.8957 0.8910 0.8779 0.93 0.98 0.9 0.9 0.89 rs2270399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8986 0.9836 0.9365 0.9063 0.8188 0.8906 0.8944 0.8973 0.8787 0.9220 0.9797 0.9308 0.9470 0.8275 0.8915 0.9056 0.9073 het 1157.60 64 19 32873698 . A G 1157.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.998;DP=64;Dels=0.00;FS=3.864;HRun=1;HaplotypeScore=1.9958;MQ=58.73;MQ0=0;MQRankSum=0.735;QD=18.09;ReadPosRankSum=1.616;VQSLOD=4.9447;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,45:64:99:1188,0,472 19 32973077 32973077 C T exonic DPY19L3 synonymous SNV DPY19L3:NM_001172774:exon19:c.C2082T:p.Y694Y,DPY19L3:NM_207325:exon19:c.C2082T:p.Y694Y 0.18 0.25 0.19 0.12 0.16 0.16 0.1755 0.2411 0.2106 0.1240 0.2312 0.1619 0.1806 0.1691 0.19 0.24 0.16 0.24 0.22 rs7253039 COSM5427175 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1764 0.2430 0.2075 0.1342 0.1266 0.2276 0.1614 0.1691 0.1689 0.1917 0.2437 0.2220 0.1755 0.1111 0.2284 0.1620 0.1643 het 2837.70 250 19 32973077 . C T 2837.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.415;DP=250;DS;Dels=0.00;FS=2.837;HRun=0;HaplotypeScore=6.4916;MQ=59.20;MQ0=0;MQRankSum=1.052;QD=11.35;ReadPosRankSum=-0.489;VQSLOD=4.9161;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:134,116:250:99:2868,0,3660 19 33096786 33096786 G A exonic ANKRD27 synonymous SNV ANKRD27:NM_032139:exon24:c.C2448T:p.Y816Y 0.23 0.34 0.14 0.34 0.12 0.17 0.1625 0.3230 0.1016 0.3339 0.1145 0.1296 0.1544 0.1668 0.19 0.31 0.12 0.2 0.12 rs7247420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1561 0.3271 0.1059 0.1638 0.3367 0.1110 0.1256 0.1509 0.1666 0.1862 0.3175 0.1277 0.1467 0.3069 0.1179 0.1192 0.1503 het 1343.92 105 19 33096786 . G A 1343.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.773;DP=105;Dels=0.00;FS=9.910;HRun=0;HaplotypeScore=1.7262;MQ=59.82;MQ0=0;MQRankSum=-1.866;QD=12.80;ReadPosRankSum=-2.835;VQSLOD=2.6230;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,51:105:99:1374,0,1354 19 33096816 33096816 C T exonic ANKRD27 synonymous SNV ANKRD27:NM_032139:exon24:c.G2418A:p.K806K 0.18 0.26 0.13 0.23 0.11 0.14 0.1432 0.2343 0.0973 0.2336 0.1050 0.1269 0.1424 0.1519 0.15 0.22 0.12 0.2 0.11 rs7248273 COSM84514 1(breast);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1383 0.2378 0.1002 0.1402 0.2338 0.1015 0.1245 0.1411 0.1527 0.1540 0.2335 0.1205 0.1258 0.2139 0.1062 0.1159 0.1370 het 1428.33 134 19 33096816 . C T 1428.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.905;DP=134;Dels=0.00;FS=9.551;HRun=2;HaplotypeScore=5.5337;MQ=59.58;MQ0=0;MQRankSum=-0.065;QD=10.66;ReadPosRankSum=0.164;VQSLOD=4.1361;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,58:134:99:1458,0,2044 19 33098632 33098632 G C exonic ANKRD27 nonsynonymous SNV ANKRD27:NM_032139:exon23:c.C2282G:p.P761R 0.27 0.054 0.33 0.092 0.55 0.39 0.4384 0.1214 0.2729 0.0916 0.5335 0.5569 0.4791 0.4115 0.42 0.13 0.56 0.13 0.37 rs2302970 COSM3756595 6(large_intestine) . . . . . . . . . . . 0.581 0.060 T 0.004 0.112 B 0.005 0.104 B 0.020 0.272 N 1 0.090 P -1.34 0.007 N 0.09 0.615 T 0.02 0.068 N 0.096 0.097 -0.907 0.472 T 0.000 0.000 T . . . 1.498 0.242 13.30 0.734 0.100 0.589 0.305 D c -0.919 -0.775 0.146 0.174 0.732 0.924 0 -0.569 0.111 0.795 0.264 1.048 0.713 0.835 0.300 0.816 0.342 2.458 0.042 Ankyrin repeat-containing domain ENSG00000105185.7|ENSG00000105185.7|ENSG00000105185.7|ENSG00000105185.7 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Muscle_Skeletal 0.4351 0.1103 0.2870 0.4927 0.0872 0.5347 0.5607 0.4797 0.4063 0.4030 0.1224 0.3017 0.5 0.1032 0.5390 0.5654 0.4868 het 288.01 24 19 33098632 . G C 288.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.020;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=58.05;MQ0=0;MQRankSum=-0.322;QD=12.00;ReadPosRankSum=0.381;VQSLOD=5.2347;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,14:24:99:318,0,277 19 33106621 33106621 C T exonic ANKRD27 synonymous SNV ANKRD27:NM_032139:exon22:c.G2118A:p.A706A 0.48 0.44 0.48 0.32 0.66 0.53 0.5890 0.4622 0.3729 0.3244 0.6330 0.6833 0.6159 0.5584 0.61 0.47 0.68 0.49 0.64 rs405858 COSM3756596 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5843 0.4654 0.3945 0.6353 0.3244 0.6389 0.6874 0.6248 0.5591 0.5874 0.4647 0.4269 0.6324 0.3168 0.6463 0.6793 0.6276 hom 4694.37 142 19 33106621 . C T 4694.37 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.142;DP=142;Dels=0.00;FS=3.871;HRun=0;HaplotypeScore=2.9302;MQ=59.82;MQ0=0;MQRankSum=-0.872;QD=33.06;ReadPosRankSum=-1.020;VQSLOD=4.5764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,141:142:99:4660,342,0 19 33110204 33110204 T C exonic ANKRD27 nonsynonymous SNV ANKRD27:NM_032139:exon20:c.A1969G:p.S657G 0.46 0.51 0.38 0.29 0.56 0.52 0.5069 0.5195 0.2830 0.2774 0.5536 0.5668 0.5165 0.5148 0.55 0.52 0.57 0.51 0.51 rs2287669 COSM3756597 2(large_intestine) . . . . . . . . . . . 0.229 0.183 T 0.435 0.339 B 0.078 0.271 B 0.149 0.180 N 1 0.090 P 2.35 0.677 M -0.04 0.633 T -1.63 0.391 N 0.011 0.001 -0.903 0.477 T 0.000 0.000 T . . . -0.294 0.069 0.687 0.884 0.173 0.051 0.108 N c -0.906 -0.935 0.028 0.138 0.707 0.730 0 1.85 0.243 1.272 0.325 -0.824 0.030 0.537 0.270 0.003 0.074 3.973 0.089 Ankyrin repeat-containing domain ENSG00000105185.7|ENSG00000105185.7 Cells_Transformed_fibroblasts|Muscle_Skeletal 0.5007 0.5180 0.3089 0.5353 0.2791 0.5653 0.5707 0.5130 0.5125 0.5322 0.5267 0.3230 0.5497 0.2862 0.5670 0.5658 0.5225 het 1469.69 127 19 33110204 . T C 1469.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.633;DP=127;Dels=0.00;FS=10.162;HRun=1;HaplotypeScore=0.6651;MQ=58.97;MQ0=0;MQRankSum=-0.051;QD=11.57;ReadPosRankSum=0.524;VQSLOD=4.8729;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,59:127:99:1500,0,1981 19 33117666 33117666 T C exonic ANKRD27 synonymous SNV ANKRD27:NM_032139:exon16:c.A1488G:p.G496G 0.65 0.72 0.54 0.65 0.65 0.65 0.6438 0.7153 0.4756 0.6931 0.6129 0.6506 0.6536 0.6650 0.66 0.7 0.64 0.77 0.54 rs6510271 COSM3756598 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6196 0.7033 0.4683 0.6388 0.6785 0.6051 0.6377 0.6212 0.6485 0.6457 0.7021 0.4795 0.6722 0.6687 0.6097 0.6295 0.6135 het 448.81 37 19 33117666 . T C 448.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.536;DP=37;Dels=0.00;FS=1.410;HRun=2;HaplotypeScore=2.3586;MQ=58.18;MQ0=0;MQRankSum=0.874;QD=12.13;ReadPosRankSum=-0.751;VQSLOD=5.7372;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,16:37:99:479,0,589 19 33183352 33183352 G C exonic NUDT19 synonymous SNV NUDT19:NM_001105570:exon1:c.G486C:p.P162P 0.22 0.15 0.24 0.25 0.31 0.19 0.3202 0.2126 0.3573 0.3633 0.3889 0.3721 0.3345 0.2227 0.22 0.14 0.26 0.087 0.082 rs61732600 COSM4131608 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2657 0.1454 0.2493 0.3490 0.2805 0.2923 0.2976 0.2891 0.1883 0.2491 0.1498 0.2608 0.3367 0.2839 0.2836 0.2897 0.2941 hom 318.65 10 19 33183352 . G C 318.65 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.87;VQSLOD=13.4710;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:352,30,0 19 33349351 33349351 C T exonic SLC7A9 synonymous SNV SLC7A9:NM_001126335:exon9:c.G972A:p.A324A,SLC7A9:NM_001243036:exon9:c.G972A:p.A324A,SLC7A9:NM_014270:exon9:c.G972A:p.A324A 0.0068 0.0015 0.0043 . 0.028 0.001 0.0120 0.0038 0.0038 0 0.0059 0.0186 0.0090 0.0049 0.016 0.005 0.022 0.011 0.041 rs61730903 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0120 0.0035 0.0060 0.0040 0 0.0064 0.0205 0.0086 0.0056 0.0121 0.0039 0.0036 0.0033 0 0.0066 0.0202 0.0122 het 1310.30 78 19 33349351 . C T 1310.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.073;DP=78;Dels=0.00;FS=3.387;HRun=0;HaplotypeScore=4.8992;MQ=59.20;MQ0=0;MQRankSum=1.521;QD=16.80;ReadPosRankSum=0.562;VQSLOD=4.4997;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:31,47:78:99:1340,0,812 19 33390796 33390796 G A exonic CEP89 synonymous SNV CEP89:NM_032816:exon16:c.C1842T:p.N614N 0.93 0.99 0.93 0.9 0.85 0.96 0.8949 0.9762 0.9382 0.8920 0.8860 0.8624 0.8899 0.9500 0.9 0.97 0.86 0.9 0.8 rs10418340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8927 0.9776 0.9352 0.8263 0.8879 0.8845 0.8615 0.8797 0.9496 0.9078 0.9771 0.9306 0.8013 0.8926 0.8940 0.8740 0.8959 hom 4449.84 152 19 33390796 . G A 4449.84 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9205;MQ=58.47;MQ0=0;QD=29.28;VQSLOD=7.4283;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:152:99:4423,349,0 19 33414420 33414420 A G exonic CEP89 nonsynonymous SNV CEP89:NM_032816:exon12:c.T1193C:p.V398A 0.29 0.22 0.25 0.5 0.22 0.27 0.2319 0.2078 0.2655 0.5321 0.1880 0.1929 0.2511 0.2401 0.2 0.21 0.2 0.26 0.21 rs4805825 . . . . . . . . . . . . . 0.291 0.149 T 0.002 0.126 B 0.006 0.133 B 0.053 0.228 N 0.897 0.277 P 1.575 0.398 L 0.72 0.510 T -2.02 0.465 N 0.182 0.222 -0.927 0.446 T 0.000 0.000 T . . . 2.630 0.377 20.4 0.966 0.298 0.894 0.496 D c -0.205 -0.074 0.658 0.222 0.707 0.730 0 3.02 0.338 3.382 0.519 1.199 0.960 1.000 0.715 0.996 0.625 7.825 0.283 . . . 0.2324 0.2056 0.2571 0.2187 0.5246 0.1922 0.1922 0.2244 0.2365 0.2122 0.2037 0.25 0.1722 0.5167 0.2091 0.1837 0.2133 hom 6372.35 217 19 33414420 . A G 6372.35 Mask AC=2;AF=1.00;AN=2;DP=217;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4966;MQ=59.69;MQ0=0;QD=29.37;VQSLOD=8.2378;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6372,473,0 19 33444707 33444707 C T exonic CEP89 synonymous SNV CEP89:NM_032816:exon4:c.G306A:p.R102R 0.4 0.39 0.58 0.4 0.33 0.35 0.3784 0.3840 0.5918 0.4219 0.3648 0.3407 0.3795 0.3595 0.35 0.39 0.33 0.45 0.34 rs10411735 COSM4416658;COSM4416657 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3851 0.3814 0.5803 0.3170 0.4173 0.3704 0.3390 0.3654 0.3565 0.3714 0.3812 0.5349 0.3013 0.4290 0.3870 0.3496 0.3494 het 1371.71 156 19 33444707 . C T 1371.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.079;DP=156;Dels=0.00;FS=3.371;HRun=0;HaplotypeScore=10.6442;MQ=57.66;MQ0=0;MQRankSum=1.480;QD=8.79;ReadPosRankSum=1.131;VQSLOD=2.6339;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:98,58:156:99:1402,0,2672 19 33467357 33467357 G A exonic FAAP24 synonymous SNV FAAP24:NM_001300978:exon3:c.G132A:p.E44E,FAAP24:NM_152266:exon5:c.G417A:p.E139E 0.42 0.4 0.6 0.44 0.38 0.36 0.4029 0.3919 0.6061 0.4562 0.3755 0.3730 0.4137 0.3701 0.38 0.4 0.37 0.4 0.34 rs2304102 COSM3756611 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4118 0.3989 0.5984 0.3932 0.4556 0.3818 0.3705 0.3934 0.3692 0.4004 0.4024 0.5525 0.3874 0.4739 0.3965 0.3852 0.3816 het 1191.75 120 19 33467357 . G A 1191.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.599;DP=120;Dels=0.00;FS=2.365;HRun=1;HaplotypeScore=1.4942;MQ=58.82;MQ0=0;MQRankSum=1.046;QD=9.93;ReadPosRankSum=-1.062;VQSLOD=6.2393;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,49:120:99:1222,0,1900 19 33467515 33467515 T C exonic FAAP24 nonsynonymous SNV FAAP24:NM_001300978:exon3:c.T290C:p.I97T,FAAP24:NM_152266:exon5:c.T575C:p.I192T 0.19 0.081 0.13 0.34 0.11 0.31 0.1583 0.0918 0.1834 0.3294 0.0774 0.1187 0.1634 0.2856 0.11 0.083 0.12 0.15 0.11 rs3816032 . . . . . . . . . . . . . . . . 0.002 0.090 B 0.008 0.127 B 0.402 0.131 N 1 0.090 P 1.585 0.400 L 2.02 0.211 T . . . 0.055 0.037 -1.003 0.290 T 0.000 0.000 T . . . -0.030 0.091 2.308 0.771 0.114 0.242 0.221 N c -0.875 -0.881 1.000 0.467 0.696 0.573 0 3.21 0.358 1.366 0.336 1.006 0.624 0.002 0.151 0.047 0.162 10.026 0.411 RuvA domain 2-like ENSG00000131944.5 Cells_Transformed_fibroblasts 0.1592 0.0892 0.1785 0.2001 0.3315 0.0748 0.1153 0.1691 0.2818 0.1155 0.0885 0.1722 0.1821 0.3079 0.0868 0.1118 0.1296 het 2642.49 207 19 33467515 . T C 2642.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.668;DP=207;DS;Dels=0.00;FS=1.079;HRun=0;HaplotypeScore=3.5293;MQ=59.69;MQ0=0;MQRankSum=-1.344;QD=12.77;ReadPosRankSum=-1.320;VQSLOD=5.4253;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:107,100:207:99:2672,0,2728 19 33498978 33498978 A G exonic RHPN2 synonymous SNV RHPN2:NM_033103:exon7:c.T702C:p.C234C 0.42 0.5 0.32 0.23 0.47 0.54 0.4314 0.4764 0.2977 0.2113 0.5275 0.4428 0.4477 0.5269 0.46 0.48 0.45 0.37 0.47 rs2163807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4265 0.4701 0.3134 0.3765 0.2060 0.5210 0.4462 0.4256 0.5284 0.4468 0.4760 0.3337 0.41 0.2221 0.5103 0.4468 0.4402 het 926 61 19 33498978 . A G 926 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.951;DP=61;Dels=0.00;FS=2.418;HRun=0;HaplotypeScore=1.4972;MQ=59.08;MQ0=0;MQRankSum=0.123;QD=15.18;ReadPosRankSum=-1.243;VQSLOD=6.3149;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,42:61:99:956,0,400 19 33579128 33579128 T C exonic GPATCH1 synonymous SNV GPATCH1:NM_018025:exon2:c.T162C:p.S54S 0.53 0.8 0.29 0.51 0.24 0.67 0.3710 0.7383 0.2758 0.5175 0.2508 0.2632 0.3664 0.6135 0.42 0.73 0.27 0.58 0.32 rs7259333 COSM4418762 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3570 0.7450 0.2820 0.3259 0.5152 0.2510 0.2594 0.3248 0.6080 0.4043 0.7299 0.3111 0.2867 0.5367 0.2542 0.2487 0.3017 het 842.68 76 19 33579128 . T C 842.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=76;Dels=0.00;FS=2.006;HRun=0;HaplotypeScore=1.7882;MQ=57.83;MQ0=0;MQRankSum=-0.381;QD=11.09;ReadPosRankSum=-1.739;VQSLOD=4.6423;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,34:76:99:873,0,977 19 33600764 33600764 T C exonic GPATCH1 nonsynonymous SNV GPATCH1:NM_018025:exon11:c.T1427C:p.L476P 0.53 0.8 0.29 0.51 0.24 0.67 0.3712 0.7377 0.2756 0.5177 0.2502 0.2633 0.3650 0.6138 0.42 0.73 0.27 0.37 0.26 rs2287679 COSM4416782 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.356 0.120 T 0.0 0.026 B 0.001 0.040 B 0.445 0.126 N 1.000 0.090 P -1.475 0.005 N 1.54 0.301 T -0.1 0.085 N 0.031 0.012 -0.997 0.308 T 0.000 0.000 T . . . 0.178 0.111 4.442 0.608 0.064 0.002 0.011 N c -1.025 -0.887 1.000 0.747 0.490 0.173 0 5.74 0.900 1.072 0.301 0.069 0.176 0.001 0.137 0.011 0.114 9.437 0.376 . ENSG00000131941.3|ENSG00000131941.3|ENSG00000131941.3|ENSG00000131941.3|ENSG00000076650.2|ENSG00000131941.3|ENSG00000076650.2|ENSG00000076650.2 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.3574 0.7432 0.2837 0.3171 0.5164 0.2509 0.2592 0.3238 0.6090 0.4034 0.7274 0.3079 0.2815 0.5372 0.2549 0.2497 0.3004 het 1357.39 96 19 33600764 . T C 1357.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.741;DP=96;Dels=0.00;FS=1.718;HRun=1;HaplotypeScore=0.7340;MQ=59.06;MQ0=0;MQRankSum=-0.289;QD=14.14;ReadPosRankSum=1.953;VQSLOD=5.6637;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,48:96:99:1387,0,1281 19 33605300 33605300 A G exonic GPATCH1 nonsynonymous SNV GPATCH1:NM_018025:exon15:c.A2171G:p.H724R 0.59 0.72 0.34 0.84 0.25 0.69 0.4063 0.6784 0.3743 0.8483 0.2672 0.2695 0.3933 0.6355 0.41 0.67 0.27 0.69 0.29 rs10416265 COSM4131613 1(skin);1(thyroid) . . . . . Bone properties (heel) . .06 24430505 rs10416265 4E-12 0.576 0.061 T 0.0 0.026 B 0.0 0.013 B 0.049 0.020 N 1 0.090 P 0.69 0.170 N 2.08 0.202 T 0.01 0.069 N 0.025 0.007 -1.015 0.253 T 0.000 0.000 T . . . -2.171 0.006 0.001 0.195 0.007 0.016 0.052 N c -1.804 -1.907 1.000 0.747 0.563 0.310 0 -8.87 0.007 -1.703 0.020 -1.788 0.007 0.000 0.063 0.000 0.016 9.373 0.372 . ENSG00000131941.3|ENSG00000131941.3|ENSG00000131941.3|ENSG00000076650.2|ENSG00000131941.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Muscle_Skeletal|Nerve_Tibial 0.3992 0.6807 0.3842 0.3454 0.8497 0.2681 0.2650 0.3582 0.6345 0.4115 0.6708 0.3753 0.3113 0.8472 0.2726 0.2563 0.3235 het 852.66 116 19 33605300 . A G 852.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.956;DP=116;Dels=0.00;FS=7.807;HRun=0;HaplotypeScore=3.4800;MQ=58.92;MQ0=0;MQRankSum=0.515;QD=7.35;ReadPosRankSum=0.726;VQSLOD=4.0422;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,38:116:99:883,0,2016 19 33605312 33605312 T C exonic GPATCH1 nonsynonymous SNV GPATCH1:NM_018025:exon15:c.T2183C:p.L728S 0.77 0.97 0.7 0.99 0.35 0.76 0.5403 0.8919 0.7752 0.9978 0.3259 0.3632 0.5311 0.7161 0.54 0.87 0.36 0.8 0.42 rs10421769 COSM3756612 1(large_intestine) . . . . . . . . . . . 0.139 0.257 T 0.001 0.067 B 0.0 0.013 B 0.334 0.141 N 1 0.090 P -1.175 0.009 N 2.25 0.178 T 1.4 0.008 N 0.018 0.003 -0.980 0.351 T 0.000 0.000 T . . . 0.359 0.129 6.251 0.466 0.037 0.001 0.009 N c -1.179 -1.031 1.000 0.747 0.563 0.310 0 5.32 0.753 2.907 0.482 0.069 0.176 0.016 0.191 0.006 0.095 11.675 0.505 . ENSG00000131941.3|ENSG00000131941.3|ENSG00000131941.3|ENSG00000166359.6|ENSG00000131941.3|ENSG00000076650.2|ENSG00000131941.3|ENSG00000131941.3|ENSG00000076650.2|ENSG00000131941.3|ENSG00000131941.3|ENSG00000076650.2|ENSG00000131941.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.5337 0.8999 0.7539 0.5705 0.9979 0.3244 0.3518 0.5089 0.7118 0.5407 0.8831 0.7248 0.5430 0.9938 0.3309 0.3387 0.4284 het 969.97 111 19 33605312 . T C 969.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.292;DP=111;Dels=0.00;FS=13.388;HRun=0;HaplotypeScore=5.6155;MQ=58.83;MQ0=0;MQRankSum=0.396;QD=8.74;ReadPosRankSum=0.058;VQSLOD=3.3450;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,43:111:99:1000,0,1731 19 33617583 33617583 C T exonic GPATCH1 synonymous SNV GPATCH1:NM_018025:exon19:c.C2709T:p.S903S 0.26 0.44 0.13 0.17 0.12 0.34 0.1817 0.4124 0.1433 0.1514 0.1493 0.1166 0.1944 0.3542 0.22 0.41 0.12 0.24 0.17 rs6510356 COSM4418037 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1757 0.4178 0.1416 0.2060 0.1500 0.1472 0.1121 0.1653 0.3505 0.2049 0.4075 0.1456 0.1656 0.1650 0.1464 0.1126 0.1544 het 1138.42 81 19 33617583 . C T 1138.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.069;DP=81;Dels=0.00;FS=0.858;HRun=0;HaplotypeScore=6.3623;MQ=58.50;MQ0=0;MQRankSum=1.562;QD=14.05;ReadPosRankSum=-0.953;VQSLOD=4.4054;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:36,44:81:99:1168,0,737 19 33635761 33635761 C T exonic WDR88 synonymous SNV WDR88:NM_173479:exon3:c.C399T:p.D133D 0.51 0.49 0.57 0.53 0.32 0.67 0.4337 0.4922 0.6390 0.5650 0.2806 0.3380 0.4392 0.6273 0.39 0.48 0.34 0.46 0.34 rs3848596 COSM3756614;COSM3756615 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4307 0.4873 0.6113 0.4785 0.5661 0.2614 0.3263 0.4122 0.6194 0.3698 0.4688 0.5634 0.4636 0.5831 0.2633 0.3048 0.3176 het 445.13 47 19 33635761 . C T 445.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.850;DP=47;Dels=0.00;FS=2.824;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.312;QD=9.47;ReadPosRankSum=-0.226;VQSLOD=5.3513;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,20:47:99:475,0,701 19 33696708 33696708 T C exonic LRP3 synonymous SNV LRP3:NM_002333:exon5:c.T1032C:p.T344T 0.68 0.63 0.73 0.4 0.85 0.82 0.7739 0.6404 0.7221 0.4001 0.7682 0.8316 0.7550 0.8237 0.78 0.66 0.84 0.49 0.4 rs2112800 COSM3756618;COSM3756619 1(oesophagus);1(skin);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7586 0.6234 0.7057 0.8330 0.3812 0.7550 0.8305 0.7881 0.8265 0.7380 0.6269 0.7079 0.8179 0.4107 0.7550 0.8317 0.7720 het 90.35 11 19 33696708 . T C 90.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DP=11;Dels=0.00;FS=7.123;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=8.21;ReadPosRankSum=-1.034;VQSLOD=3.4937;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,4:11:99:120,0,225 19 33698448 33698448 G A exonic LRP3 synonymous SNV LRP3:NM_002333:exon7:c.G2280A:p.E760E 0.081 0.0038 0.11 0.2 0.073 0.053 0.0862 0.0169 0.1220 0.2063 0.1445 0.0747 0.0814 0.0568 0.051 0.018 0.067 0.043 0.049 rs3745973 COSM3756625;COSM3756626 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0846 0.0141 0.1255 0.0300 0.2078 0.1206 0.0714 0.0672 0.0528 0.0663 0.0148 0.1169 0.0099 0.1825 0.1125 0.0697 0.0890 het 465.55 23 19 33698448 . G A 465.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.735;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.735;QD=20.24;ReadPosRankSum=-0.875;VQSLOD=12.0904;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,17:23:99:496,0,118 19 33882222 33882222 G A exonic PEPD synonymous SNV PEPD:NM_001166056:exon11:c.C1008T:p.H336H,PEPD:NM_001166057:exon11:c.C939T:p.H313H,PEPD:NM_000285:exon13:c.C1131T:p.H377H 0.098 0.0068 0.056 0.22 0.14 0.086 0.1484 0.0320 0.0902 0.2494 0.1746 0.1680 0.1103 0.1081 0.11 0.023 0.15 0.076 0.13 rs17569 . . Benign|Benign Prolidase_deficiency|not_specified RCV000285859.1|RCV000456000.1 MedGen:OMIM|MedGen C0268532:170100|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1286 0.0234 0.0754 0.1248 0.2313 0.1298 0.1508 0.1227 0.1023 0.1218 0.0308 0.0849 0.1291 0.2181 0.1352 0.1625 0.1345 het 700.95 57 19 33882222 . G A 700.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.072;DP=57;Dels=0.00;FS=2.374;HRun=0;HaplotypeScore=0.8321;MQ=58.93;MQ0=0;MQRankSum=-0.072;QD=12.30;ReadPosRankSum=0.264;VQSLOD=6.6116;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,27:57:99:731,0,785 19 34180194 34180194 G A exonic CHST8 synonymous SNV CHST8:NM_001127896:exon2:c.G27A:p.R9R,CHST8:NM_022467:exon2:c.G27A:p.R9R,CHST8:NM_001127895:exon3:c.G27A:p.R9R 0.002 . 0.0029 . 0.008 . 0.0073 0.0009 0.0038 0 0.0103 0.0099 0.0083 0.0059 0.0058 0.0011 0.0081 . 0.0082 rs62103464 COSM3756629 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0075 0.0008 0.0044 0.0142 0 0.0104 0.0097 0.0100 0.0055 0.0094 0.0007 0.0060 0.0232 0 0.0094 0.0149 0.0154 het 2759.18 199 19 34180194 . G A 2759.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.490;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8932;MQ=59.32;MQ0=0;MQRankSum=0.102;QD=13.87;ReadPosRankSum=-0.707;VQSLOD=5.8899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,107:199:99:2789,0,2374 19 34842488 34842488 T C exonic KIAA0355 synonymous SNV KIAA0355:NM_014686:exon13:c.T2895C:p.D965D 0.6 0.74 0.4 0.82 0.39 0.56 0.4506 0.6745 0.3549 0.8289 0.4068 0.3625 0.4287 0.5493 0.45 0.64 0.36 0.63 0.18 rs392340 COSM4131629 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4396 0.6750 0.3527 0.4249 0.8263 0.4119 0.3542 0.4034 0.5406 0.4933 0.6695 0.3484 0.4139 0.8294 0.4161 0.3843 0.4582 het 1048.30 81 19 34842488 . T C 1048.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.570;DP=81;Dels=0.00;FS=5.274;HRun=0;HaplotypeScore=1.8625;MQ=58.50;MQ0=0;MQRankSum=1.626;QD=12.94;ReadPosRankSum=-1.588;VQSLOD=4.7867;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,44:81:99:1078,0,967 19 34843761 34843761 C A exonic KIAA0355 synonymous SNV KIAA0355:NM_014686:exon14:c.C3114A:p.P1038P 0.63 0.83 0.42 0.82 0.39 0.56 0.5912 0.8197 0.5295 0.8605 0.6018 0.4978 0.5518 0.6027 0.51 0.76 0.39 0.65 0.22 rs397414 COSM3756632 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4840 0.7986 0.3828 0.4342 0.8397 0.4424 0.3972 0.4349 0.5605 0.5217 0.7671 0.3578 0.41 0.8283 0.4180 0.3843 0.4595 het 188.98 16 19 34843761 . C A 188.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.418;DP=16;Dels=0.00;FS=2.447;HRun=0;HaplotypeScore=0.9973;MQ=57.05;MQ0=0;MQRankSum=0.053;QD=11.81;ReadPosRankSum=0.683;VQSLOD=4.3126;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:219,0,236 19 34868642 34868642 A G exonic GPI synonymous SNV GPI:NM_001289790:exon5:c.A405G:p.G135G,GPI:NM_000175:exon6:c.A489G:p.G163G,GPI:NM_001184722:exon6:c.A522G:p.G174G,GPI:NM_001329911:exon6:c.A489G:p.G163G,GPI:NM_001289789:exon7:c.A606G:p.G202G,GPI:NM_001329909:exon7:c.A489G:p.G163G,GPI:NM_001329910:exon7:c.A489G:p.G163G 0.2 0.39 0.082 0.2 0.065 0.16 0.1112 0.3406 0.0742 0.1991 0.0751 0.0655 0.1013 0.1459 0.15 0.32 0.065 0.34 0.066 rs1801015 COSM4000656 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000244239.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1063 0.3391 0.0835 0.1008 0.2002 0.0821 0.0623 0.0934 0.1439 0.1500 0.3303 0.0811 0.0795 0.1925 0.0825 0.0645 0.1107 het 1298.37 128 19 34868642 . A G 1298.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.921;DP=128;Dels=0.00;FS=8.731;HRun=3;HaplotypeScore=1.6988;MQ=59.15;MQ0=0;MQRankSum=0.090;QD=10.14;ReadPosRankSum=0.274;VQSLOD=4.8485;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,52:128:99:1328,0,1926 19 34942896 34942896 G A exonic UBA2 synonymous SNV UBA2:NM_005499:exon10:c.G882A:p.T294T 0.0006 . . . 0.002 0.001 0.0008 0 0 0 0.0076 0.0004 0.0011 0.0012 0.0001 . 0.0001 . . rs146405147 COSM286223 1(stomach);1(large_intestine);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0009 0 0 0 6.643e-05 0.0066 0.0002 0.0006 0.0011 0.0020 0.0001 0 0 0 0.0092 0.0018 0.0031 het 497.35 46 19 34942896 . G A 497.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.663;DP=46;Dels=0.00;FS=1.548;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.026;QD=10.81;ReadPosRankSum=-0.959;VQSLOD=4.5054;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,19:46:99:527,0,731 19 34959979 34959979 A G exonic UBA2 synonymous SNV UBA2:NM_005499:exon17:c.A1776G:p.S592S 0.79 0.75 0.86 0.84 0.88 0.67 0.8333 0.7701 0.8955 0.8252 0.8365 0.8709 0.8078 0.6826 0.84 0.78 0.88 0.72 0.5 rs7259160 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8385 0.7675 0.8899 0.8349 0.8220 0.8308 0.8769 0.8470 0.6898 0.8335 0.7683 0.8842 0.8411 0.8331 0.8272 0.8716 0.8065 het 357.71 23 19 34959979 . A G 357.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.775;DP=23;Dels=0.00;FS=1.643;HRun=1;HaplotypeScore=0.9989;MQ=57.52;MQ0=0;MQRankSum=0.097;QD=15.55;ReadPosRankSum=-1.001;VQSLOD=4.4632;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,15:23:99:388,0,247 19 35422808 35422808 C T exonic ZNF30 nonsynonymous SNV ZNF30:NM_001099437:exon3:c.C71T:p.S24F,ZNF30:NM_001099438:exon3:c.C71T:p.S24F,ZNF30:NM_194325:exon3:c.C71T:p.S24F 0.29 0.27 0.23 0.22 0.36 0.35 0.3122 0.2652 0.1848 0.2460 0.3980 0.3343 0.3408 0.3372 0.3 0.25 0.32 0.17 . rs10422961 COSM1392764 1(large_intestine) . . . . . . . . . . . 0.033 0.443 D 0.694 0.398 P 0.351 0.411 B . . . 0.998 0.588 P 3.805 0.955 H 4.1 0.030 T -3.79 0.717 D 0.195 0.239 -1.044 0.160 T 0.000 0.000 T . . . 5.781 0.790 27.1 0.988 0.463 0.158 0.189 N c 0.065 -0.061 0.000 0.065 0.563 0.310 0 1.55 0.222 0.900 0.279 0.465 0.278 0.354 0.256 0.985 0.512 6.571 0.216 Krueppel-associated box ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.3044 0.2589 0.1880 0.3244 0.2409 0.3923 0.3288 0.3103 0.3294 0.3154 0.2651 0.2053 0.2980 0.2268 0.3922 0.3406 0.3503 hom 1290.89 39 19 35422808 . C T 1290.89 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.88;MQ0=0;QD=33.10;VQSLOD=9.9498;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1324,105,0 19 35434238 35434238 A G exonic ZNF30 nonsynonymous SNV ZNF30:NM_001099437:exon5:c.A371G:p.Q124R,ZNF30:NM_001099438:exon5:c.A371G:p.Q124R,ZNF30:NM_194325:exon5:c.A368G:p.Q123R 0.59 0.7 0.38 0.6 0.51 0.64 0.5174 0.6818 0.3084 0.6261 0.5260 0.4934 0.5368 0.6020 0.53 0.66 0.47 0.55 . rs1811 COSM3932997;COSM3932996 1(urinary_tract) . . . . . . . . . . . 0.135 0.262 T 0.0 0.026 B 0.014 0.158 B . . . 1 0.090 P 0.46 0.130 N 1.64 0.278 T 0.54 0.028 N 0.015 0.175 -1.000 0.299 T 0.000 0.000 T . . . -0.789 0.041 0.045 0.651 0.075 0.010 0.037 N c -1.877 -1.910 0.016 0.128 0.651 0.465 0 -0.504 0.113 -4.404 0.003 -1.752 0.007 0.000 0.063 0.046 0.161 6.151 0.194 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000168661.10|ENSG00000180884.9|ENSG00000168661.10|ENSG00000105711.6|ENSG00000180884.9|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000180884.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Lung|Muscle_Skeletal|Testis|Thyroid|Thyroid 0.5056 0.6831 0.3192 0.5553 0.6333 0.5205 0.4833 0.5060 0.6037 0.5535 0.6834 0.3840 0.5662 0.6442 0.5183 0.4889 0.5041 hom 2348.62 86 19 35434238 . A G 2348.62 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7306;MQ=59.03;MQ0=0;QD=27.31;VQSLOD=7.6602;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2382,196,0 19 35434512 35434512 T C exonic ZNF30 synonymous SNV ZNF30:NM_001099437:exon5:c.T645C:p.S215S,ZNF30:NM_001099438:exon5:c.T645C:p.S215S,ZNF30:NM_194325:exon5:c.T642C:p.S214S 0.65 0.94 0.4 0.61 0.51 0.64 0.5348 0.8725 0.3171 0.6265 0.5261 0.4949 0.5404 0.6017 0.6 0.86 0.48 0.74 . rs2651109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5190 0.8768 0.3277 0.5584 0.6346 0.5202 0.4834 0.5113 0.6026 0.6085 0.8728 0.4019 0.5695 0.6469 0.5183 0.4895 0.5205 hom 745.70 24 19 35434512 . T C 745.70 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=31.07;VQSLOD=9.4622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:63.19:779,63,0 19 35435006 35435006 G A exonic ZNF30 nonsynonymous SNV ZNF30:NM_001099437:exon5:c.G1139A:p.R380K,ZNF30:NM_001099438:exon5:c.G1139A:p.R380K,ZNF30:NM_194325:exon5:c.G1136A:p.R379K 0.65 0.94 0.4 0.6 0.51 0.64 0.5334 0.8713 0.3145 0.6176 0.5256 0.4935 0.5366 0.6003 0.6 0.85 0.47 0.74 . rs1345658 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -1.235 0.008 N 2.89 0.102 T 2.56 0.002 N 0.031 0.037 -1.020 0.237 T 0.000 0.000 T . . . -0.379 0.063 0.434 0.670 0.080 0.010 0.037 N c -1.424 -1.326 0.195 0.181 0.461 0.090 0 2.07 0.259 3.361 0.518 0.018 0.143 1.000 0.715 0.141 0.202 5.384 0.154 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000105711.6|ENSG00000180884.9|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000180884.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Lung|Muscle_Skeletal|Testis|Thyroid|Thyroid 0.5183 0.8771 0.3274 0.5583 0.6253 0.5201 0.4832 0.5104 0.6022 0.6077 0.8727 0.4031 0.5695 0.6340 0.5181 0.4895 0.5226 hom 3643.66 109 19 35435006 . G A 3643.66 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.715;DP=109;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=59.58;MQ0=0;MQRankSum=-0.175;QD=33.43;ReadPosRankSum=-1.065;VQSLOD=9.5672;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,108:109:99:3607,262,0 19 35435059 35435059 G A exonic ZNF30 nonsynonymous SNV ZNF30:NM_001099437:exon5:c.G1192A:p.E398K,ZNF30:NM_001099438:exon5:c.G1192A:p.E398K,ZNF30:NM_194325:exon5:c.G1189A:p.E397K . . . . . . 5.791e-05 0 0 0 0 0.0001 0 0 0.0004 0.0002 0.0005 . . rs199540599 . . . . . . . . . . . . . 0.026 0.469 D 0.992 0.629 D 0.681 0.517 P . . . 0.991 0.240 N 0.895 0.225 L 1.86 0.243 T -3.29 0.657 D 0.098 0.144 -1.054 0.133 T 0.064 0.267 T 0.003 0.058 T 5.174 0.698 25.5 0.997 0.808 0.836 0.424 D c -0.220 -0.394 0.857 0.251 0.672 0.522 0 1.0 0.189 3.339 0.516 -0.933 0.025 1.000 0.715 0.000 0.016 8.138 0.301 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 . . 4.471e-05 0 0 0 0 0 8.962e-05 0 3.249e-05 6.458e-05 0.0001 0 0 0 0 6.664e-05 0 het 1356.73 103 19 35435059 . G A 1356.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.271;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.33;MQ0=0;MQRankSum=1.614;QD=13.17;ReadPosRankSum=-1.152;VQSLOD=4.9312;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,49:103:99:1387,0,1493 19 35449409 35449409 G A exonic ZNF792 synonymous SNV ZNF792:NM_175872:exon4:c.C1350T:p.H450H 0.33 0.48 0.19 0.2 0.33 0.34 0.3063 0.4464 0.1381 0.2243 0.3872 0.3072 0.3325 0.3532 0.35 0.44 0.3 0.28 . rs2651081 COSM4000660;COSM148589 4(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2976 0.4509 0.1481 0.3612 0.2212 0.3784 0.3025 0.3042 0.3381 0.3496 0.4529 0.1751 0.3675 0.2091 0.3803 0.3073 0.3433 hom 5961.57 201 19 35449409 . G A 5961.57 Mask AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0270;MQ=59.63;MQ0=0;QD=29.66;VQSLOD=7.0378;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,201:201:99:5961,466,0 19 35449486 35449486 T C exonic ZNF792 nonsynonymous SNV ZNF792:NM_175872:exon4:c.A1273G:p.N425D 0.038 0.0038 0.04 0.004 0.046 0.11 0.0487 0.0066 0.0253 0.0014 0.0525 0.0517 0.0621 0.1159 0.037 0.0089 0.052 0.011 . rs34687332 . . . . . . . . . . . . . 0.092 0.316 T 0.273 0.301 B 0.067 0.261 B . . . 0.987 0.245 N -0.735 0.018 N 2.38 0.158 T -2.08 0.475 N 0.082 0.075 -0.991 0.323 T 0.004 0.012 T . . . 1.676 0.263 14.27 0.985 0.420 0.002 0.010 N c -0.836 -0.860 0.948 0.277 0.707 0.730 0 1.74 0.235 -2.672 0.009 -0.036 0.125 0.000 0.063 0.641 0.297 6.090 0.191 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0481 0.0062 0.0239 0.0668 0.0016 0.0520 0.0514 0.0522 0.1029 0.0345 0.0089 0.0442 0.0762 0.0012 0.0538 0.0459 0.0510 het 1014.48 94 19 35449486 . T C 1014.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.818;DP=94;Dels=0.00;FS=11.736;HRun=0;HaplotypeScore=3.2253;MQ=60.00;MQ0=0;MQRankSum=1.044;QD=10.79;ReadPosRankSum=-0.127;VQSLOD=4.2363;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,38:94:99:1044,0,1579 19 35449760 35449760 G C exonic ZNF792 synonymous SNV ZNF792:NM_175872:exon4:c.C999G:p.T333T 0.32 0.47 0.18 0.2 0.33 0.34 0.3033 0.4246 0.1374 0.2234 0.3870 0.3073 0.3230 0.3342 0.34 0.42 0.3 0.28 . rs2651080 COSM4131644;COSM4131645 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2961 0.4294 0.1452 0.3608 0.2208 0.3792 0.3015 0.3028 0.3351 0.3408 0.4276 0.1699 0.3675 0.2074 0.3794 0.3050 0.3391 hom 1703.22 56 19 35449760 . G C 1703.22 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.9933;MQ=59.17;MQ0=0;QD=30.41;VQSLOD=8.4377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:56:99:1736,150,0 19 35450111 35450111 C T exonic ZNF792 synonymous SNV ZNF792:NM_175872:exon4:c.G648A:p.G216G 0.014 0.0015 0.022 . 0.053 0.002 0.0244 0.0043 0.0174 0 0.0507 0.0339 0.0320 0.0053 0.021 0.005 0.029 . . rs35715851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0254 0.0037 0.0198 0.0223 0.0002 0.0500 0.0344 0.0350 0.0053 0.0268 0.0048 0.0215 0.0265 0 0.0492 0.0363 0.0468 het 3895.04 220 19 35450111 . C T 3895.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.895;DP=220;Dels=0.00;FS=7.823;HRun=2;HaplotypeScore=6.2078;MQ=59.73;MQ0=0;MQRankSum=-0.259;QD=17.70;ReadPosRankSum=-0.372;VQSLOD=3.2533;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:110,110:220:99:3283,0,3137 19 35450229 35450229 C T exonic ZNF792 nonsynonymous SNV ZNF792:NM_175872:exon4:c.G530A:p.R177Q 0.63 0.91 0.4 0.59 0.51 0.55 0.5224 0.8478 0.3143 0.6172 0.5257 0.4937 0.5298 0.5283 0.59 0.83 0.47 0.71 . rs2651079 COSM5425291;COSM5425292 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.3 0.001 N 3.54 0.048 T 3.02 0.001 N 0.059 0.043 -1.018 0.245 T 0.000 0.000 T . . . -0.195 0.076 1.126 0.179 0.005 0.001 0.004 N c -1.664 -1.635 1.000 0.489 0.707 0.730 0 -0.202 0.125 -0.126 0.105 -0.055 0.122 0.000 0.063 0.008 0.104 2.958 0.055 . ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000105711.6|ENSG00000180884.9|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000168661.10|ENSG00000180884.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Lung|Muscle_Skeletal|Testis|Thyroid|Thyroid 0.5077 0.8551 0.3266 0.5584 0.6238 0.5203 0.4834 0.5069 0.5306 0.6013 0.8502 0.4019 0.5695 0.6377 0.5181 0.4894 0.5143 hom 8958.79 250 19 35450229 . C T 8958.79 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8268;MQ=59.65;MQ0=0;QD=35.84;VQSLOD=8.9008;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8958,704,0 19 35506729 35506729 G A exonic;splicing GRAMD1A;GRAMD1A NM_001320036:exon12:c.1331-2G>A synonymous SNV GRAMD1A:NM_001136199:exon10:c.G1050A:p.A350A,GRAMD1A:NM_001320035:exon10:c.G369A:p.A123A,GRAMD1A:NM_001320034:exon11:c.G1071A:p.A357A,GRAMD1A:NM_020895:exon11:c.G1071A:p.A357A 0.26 0.27 0.31 0.22 0.34 0.15 0.2897 0.2763 0.2160 0.2426 0.3398 0.3311 0.3310 0.1827 0.3 0.27 0.32 0.17 0.32 rs2290647 COSM3933000 1(urinary_tract);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2879 0.2732 0.2227 0.4591 0.2448 0.3245 0.3224 0.3318 0.1779 0.3097 0.2754 0.2566 0.4437 0.2457 0.3252 0.3329 0.3149 het 900.40 55 19 35506729 . G A 900.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.804;DP=55;Dels=0.00;FS=2.921;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.044;QD=16.37;ReadPosRankSum=0.287;VQSLOD=6.3359;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,30:55:99:930,0,599 19 35510102 35510102 G C exonic GRAMD1A synonymous SNV GRAMD1A:NM_001136199:exon11:c.G1200C:p.T400T,GRAMD1A:NM_001320035:exon11:c.G519C:p.T173T,GRAMD1A:NM_001320034:exon12:c.G1221C:p.T407T,GRAMD1A:NM_020895:exon12:c.G1221C:p.T407T,GRAMD1A:NM_001320036:exon13:c.G1479C:p.T493T 0.37 0.55 0.39 0.22 0.38 0.28 0.3674 0.5343 0.3067 0.2463 0.4011 0.3791 0.4018 0.3055 0.42 0.51 0.37 0.35 0.37 rs2290646 COSM4000663 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3593 0.5281 0.3117 0.4863 0.2484 0.3916 0.3691 0.3909 0.2845 0.4190 0.5306 0.3624 0.4767 0.2553 0.3948 0.3812 0.3938 het 1370.22 122 19 35510102 . G C 1370.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.272;DP=122;Dels=0.00;FS=6.876;HRun=1;HaplotypeScore=4.7771;MQ=59.61;MQ0=0;MQRankSum=-0.134;QD=11.23;ReadPosRankSum=-0.967;VQSLOD=3.8911;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,55:122:99:1400,0,1831 19 35550878 35550878 C T exonic HPN synonymous SNV HPN:NM_182983:exon6:c.C391T:p.L131L,HPN:NM_002151:exon7:c.C391T:p.L131L 0.065 0.0045 0.072 0.011 0.16 0.095 0.1390 0.0339 0.0706 0.0124 0.1889 0.1794 0.135 0.1286 0.12 0.037 0.16 0.098 0.11 rs45512696 COSM3756648 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1149 0.0269 0.0629 0.1055 0.0098 0.1568 0.1592 0.1131 0.1008 0.1018 0.0261 0.0621 0.1026 0.0086 0.1550 0.1456 0.1071 het 396.42 35 19 35550878 . C T 396.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.023;DP=35;Dels=0.00;FS=1.643;HRun=1;HaplotypeScore=1.7206;MQ=58.13;MQ0=0;MQRankSum=0.000;QD=11.33;ReadPosRankSum=1.214;VQSLOD=4.7090;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,19:35:99:426,0,479 19 35612159 35612159 C G exonic FXYD3 nonsynonymous SNV FXYD3:NM_001136010:exon5:c.C107G:p.P36R,FXYD3:NM_001136009:exon6:c.C107G:p.P36R 0.24 0.18 0.41 0.28 0.25 0.13 0.2652 0.2004 0.4779 0.3104 0.2910 0.2540 0.2511 0.1686 0.23 0.2 0.25 0.34 0.19 rs2290649 COSM4000664;COSM4000665;COSM4000666 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . . . . . . . 0.004 0.000 -0.980 0.351 T 0.000 0.000 T . . . -0.201 0.076 1.093 0.576 0.057 0.002 0.013 N c -1.829 -1.979 1.000 0.747 0.403 0.052 0 -8.32 0.009 -1.787 0.018 -1.702 0.008 0.000 0.063 0.000 0.016 4.253 0.101 . ENSG00000153902.9|ENSG00000153902.9 Lung|Pancreas 0.2753 0.2031 0.4728 0.1425 0.2976 0.2930 0.2600 0.2559 0.1718 0.2427 0.1951 0.4165 0.1367 0.2875 0.2697 0.2516 0.2429 het 1201.04 122 19 35612159 . C G 1201.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.024;DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8434;MQ=59.03;MQ0=0;MQRankSum=1.021;QD=9.84;ReadPosRankSum=1.464;VQSLOD=5.8098;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,55:122:99:1231,0,1583 19 35622695 35622695 A G exonic LGI4 synonymous SNV LGI4:NM_139284:exon5:c.T456C:p.H152H 0.97 0.99 0.97 1. 0.94 0.94 0.9540 0.9905 0.9705 0.9987 0.9638 0.9397 0.9456 0.9514 0.96 0.99 0.94 0.94 0.52 rs1673007 COSM4131656 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9557 0.9909 0.9744 0.9133 0.9996 0.9630 0.9420 0.9418 0.9519 0.9648 0.9881 0.9702 0.9338 1 0.9573 0.9497 0.9601 hom 296.83 10 19 35622695 . A G 296.83 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.68;VQSLOD=13.9150;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:330,27,0 19 35648365 35648365 T G exonic FXYD5 nonsynonymous SNV FXYD5:NM_001164605:exon3:c.T103G:p.S35A,FXYD5:NM_001320912:exon3:c.T103G:p.S35A,FXYD5:NM_001320913:exon3:c.T103G:p.S35A,FXYD5:NM_014164:exon3:c.T103G:p.S35A,FXYD5:NM_144779:exon3:c.T103G:p.S35A 0.41 0.34 0.35 0.8 0.26 0.32 0.3215 0.3229 0.3807 0.8241 0.3050 0.2529 0.2867 0.3017 0.28 0.33 0.25 0.36 0.18 rs1688005 COSM4131660;COSM4131659 1(thyroid) . . . . . . . . . . . 0.158 0.239 T 0.0 0.026 B 0.001 0.040 B 0.007 0.012 N 1 0.090 P 0.205 0.094 N 0.78 0.654 T -0.82 0.225 N 0.015 0.003 -0.959 0.395 T 0.000 0.000 T . . . -2.347 0.004 0.001 0.528 0.047 0.013 0.044 N c -1.674 -1.741 1.000 0.747 0.732 0.924 0 -4.58 0.032 -2.276 0.012 -1.049 0.020 0.000 0.063 0.000 0.016 0.659 0.008 . ENSG00000089327.10|ENSG00000089327.10 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.3246 0.3236 0.3722 0.2325 0.8250 0.3069 0.2516 0.2875 0.3070 0.3086 0.3188 0.3568 0.2351 0.8356 0.2897 0.2505 0.2864 het 942.52 85 19 35648365 . T G 942.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.289;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3307;MQ=59.29;MQ0=0;MQRankSum=0.560;QD=11.09;ReadPosRankSum=0.287;VQSLOD=6.5308;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,44:85:99:973,0,1066 19 35649281 35649281 A G exonic FXYD5 synonymous SNV FXYD5:NM_001164605:exon4:c.A177G:p.P59P,FXYD5:NM_001320912:exon4:c.A177G:p.P59P,FXYD5:NM_001320913:exon4:c.A177G:p.P59P,FXYD5:NM_014164:exon4:c.A177G:p.P59P,FXYD5:NM_144779:exon4:c.A177G:p.P59P 0.2 0.19 0.24 0.12 0.18 0.3 0.1911 0.2139 0.2892 0.1002 0.1199 0.1655 0.1921 0.2880 0.19 0.22 0.17 0.17 0.16 rs1128882 COSM4416524;COSM4416523 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1927 0.2151 0.2779 0.1528 0.1015 0.1228 0.1705 0.1894 0.2838 0.1749 0.2123 0.2273 0.1722 0.1021 0.1196 0.1717 0.1650 het 1590.36 144 19 35649281 . A G 1590.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.453;DP=144;Dels=0.00;FS=3.090;HRun=0;HaplotypeScore=3.2449;MQ=58.93;MQ0=0;MQRankSum=1.546;QD=11.04;ReadPosRankSum=1.176;VQSLOD=5.7828;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,64:144:99:1620,0,2040 19 35660508 35660508 G A exonic FXYD5 nonsynonymous SNV FXYD5:NM_001320913:exon8:c.G434A:p.R145H,FXYD5:NM_001164605:exon9:c.G527A:p.R176H,FXYD5:NM_014164:exon9:c.G527A:p.R176H,FXYD5:NM_144779:exon9:c.G527A:p.R176H 0.87 0.97 0.89 0.79 0.78 0.91 0.8115 0.9537 0.9005 0.7805 0.7652 0.7684 0.7885 0.8693 0.83 0.95 0.78 0.95 0.79 rs12110 . . . . . . . . . . . . . 0.64 0.050 T 0.0 0.067 B 0.0 0.040 B 0.007 0.011 N 1 0.090 P 0.85 0.213 L 0.71 0.583 T -0.48 0.154 N 0.03 0.039 -0.949 0.412 T 0.000 0.000 T . . . 0.099 0.103 3.596 0.583 0.058 0.009 0.035 N c -1.565 -1.653 0.999 0.372 0.707 0.730 0 -3.28 0.047 -1.817 0.018 -0.647 0.041 0.000 0.063 0.002 0.062 7.944 0.290 . . . 0.8116 0.9539 0.8923 0.6814 0.7743 0.7617 0.7790 0.7894 0.8707 0.8230 0.9477 0.8600 0.7067 0.7658 0.7541 0.7765 0.7658 hom 2271.04 76 19 35660508 . G A 2271.04 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=60.00;MQ0=0;QD=29.88;VQSLOD=8.0605;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2304,184,0 19 35718938 35718938 C T exonic FAM187B nonsynonymous SNV FAM187B:NM_152481:exon1:c.G646A:p.V216I 0.17 0.27 0.14 0.019 0.2 0.19 0.1844 0.2556 0.1056 0.0065 0.2352 0.1973 0.1748 0.2160 0.22 0.26 0.2 0.15 0.2 rs564117 COSM1392802 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.827 0.029 T 0.102 0.243 B 0.02 0.179 B 0.480 0.050 N 1 0.090 P 0.46 0.130 N 1.93 0.229 T -0.16 0.095 N 0.025 0.007 -1.022 0.230 T 0.000 0.000 T . . . -1.073 0.029 0.011 0.609 0.064 0.005 0.022 N c -1.767 -1.851 1.000 0.747 0.497 0.185 0 -10.0 0.004 -2.354 0.012 -0.486 0.053 0.000 0.063 0.001 0.043 4.783 0.125 . ENSG00000105699.12|ENSG00000012124.10|ENSG00000269553.1|ENSG00000177558.3 Artery_Aorta|Nerve_Tibial|Nerve_Tibial|Testis 0.1817 0.2553 0.1121 0.1719 0.0064 0.2362 0.1993 0.1900 0.2180 0.2072 0.2576 0.1074 0.1854 0.0043 0.2194 0.2016 0.2276 het 804.63 65 19 35718938 . C T 804.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.747;DP=65;Dels=0.00;FS=2.216;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;MQRankSum=-1.339;QD=12.38;ReadPosRankSum=0.545;VQSLOD=5.9793;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,31:65:99:835,0,924 19 35719020 35719020 C T exonic FAM187B stopgain FAM187B:NM_152481:exon1:c.G564A:p.W188X 0.32 0.31 0.35 0.17 0.32 0.45 0.3372 0.3102 0.3454 0.1813 0.3346 0.3285 0.3285 0.4663 0.33 0.32 0.33 0.23 0.31 rs541169 COSM3756651 2(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.943 0.076 N 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 7.650 0.954 35 0.971 0.316 0.088 0.145 N c 0.131 -0.246 0.120 0.169 0.497 0.185 0 1.22 0.202 0.718 0.254 -0.035 0.126 0.000 0.063 0.002 0.062 3.618 0.076 . ENSG00000105699.12|ENSG00000105699.12|ENSG00000105699.12|ENSG00000105699.12|ENSG00000268947.1|ENSG00000012124.10|ENSG00000177558.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis 0.3372 0.3081 0.3361 0.3291 0.1759 0.3366 0.3300 0.3518 0.4696 0.3164 0.3117 0.3182 0.3079 0.1840 0.3187 0.3296 0.3668 het 989.02 87 19 35719020 . C T 989.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.541;DP=87;Dels=0.00;FS=2.962;HRun=0;HaplotypeScore=4.5164;MQ=60.00;MQ0=0;MQRankSum=1.476;QD=11.37;ReadPosRankSum=0.056;VQSLOD=4.9785;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,40:87:99:1019,0,1369 19 35719106 35719106 A G exonic FAM187B nonsynonymous SNV FAM187B:NM_152481:exon1:c.T478C:p.C160R 0.5 0.43 0.61 0.19 0.72 0.61 0.6431 0.4480 0.5673 0.2078 0.7147 0.7311 0.6542 0.6619 0.64 0.46 0.73 0.42 0.73 rs565791 COSM4131661 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.481 N 0.215 0.343 P -1.87 0.003 N 2.41 0.155 T 6.12 0.000 N 0.078 0.069 -0.970 0.371 T 0.000 0.000 T . . . -0.380 0.063 0.431 0.560 0.053 0.010 0.037 N c -0.989 -0.712 0.825 0.246 0.497 0.185 0 5.07 0.680 1.352 0.334 0.076 0.183 0.977 0.347 0.023 0.138 10.065 0.413 . ENSG00000105699.12|ENSG00000263397.1 Pancreas|Thyroid 0.6432 0.4386 0.5704 0.6845 0.2004 0.7166 0.7363 0.6830 0.6616 0.6148 0.4492 0.5957 0.6867 0.2055 0.7178 0.7236 0.7224 het 1649.30 113 19 35719106 . A G 1649.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.992;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2538;MQ=59.26;MQ0=0;MQRankSum=1.425;QD=14.60;ReadPosRankSum=-0.413;VQSLOD=5.3175;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,63:113:99:1679,0,1259 19 35719257 35719257 G A exonic FAM187B synonymous SNV FAM187B:NM_152481:exon1:c.C327T:p.D109D 0.28 0.13 0.37 0.036 0.59 0.36 0.4703 0.1889 0.3141 0.0327 0.6126 0.5977 0.4956 0.4136 0.46 0.2 0.6 0.28 0.59 rs11673347 COSM1392803 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4714 0.1783 0.3335 0.5116 0.0308 0.6124 0.6035 0.5133 0.4120 0.4454 0.1908 0.3687 0.5497 0.0241 0.6137 0.5941 0.5706 het 1893.18 177 19 35719257 . G A 1893.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.710;DP=177;Dels=0.01;FS=0.584;HRun=3;HaplotypeScore=4.3082;MQ=59.74;MQ0=0;MQRankSum=0.290;QD=10.64;ReadPosRankSum=-0.174;VQSLOD=5.8414;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:103,74:177:99:1923,0,2676 19 35741456 35741456 T C exonic LSR synonymous SNV LSR:NM_001260489:exon2:c.T492C:p.V164V,LSR:NM_001260490:exon2:c.T492C:p.V164V,LSR:NM_015925:exon2:c.T492C:p.V164V,LSR:NM_205834:exon2:c.T492C:p.V164V,LSR:NM_205835:exon2:c.T492C:p.V164V 0.56 0.39 0.68 0.47 0.74 0.63 0.6816 0.4503 0.7030 0.4642 0.7621 0.7443 0.71 0.6387 0.65 0.45 0.74 0.52 0.73 rs2073900 COSM5427176 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6870 0.4419 0.7111 0.6580 0.4606 0.7630 0.7496 0.7097 0.6328 0.6468 0.4537 0.7038 0.7252 0.4598 0.7645 0.7420 0.7286 hom 2813.18 88 19 35741456 . T C 2813.18 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5387;MQ=59.74;MQ0=0;QD=31.97;VQSLOD=8.9186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2846,250,0 19 35786868 35786868 C T exonic MAG synonymous SNV MAG:NM_001199216:exon4:c.C324T:p.S108S,MAG:NM_002361:exon4:c.C399T:p.S133S,MAG:NM_080600:exon4:c.C399T:p.S133S 0.29 0.1 0.37 0.42 0.24 0.4 0.2710 0.1285 0.4056 0.4136 0.2192 0.2294 0.2757 0.3906 0.18 0.12 0.22 0.18 0.3 rs2301600 . . Pathogenic Spastic_paraplegia_75\x2c_autosomal_recessive RCV000202409.1 MedGen:OMIM CN233361:616680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2736 0.1218 0.3921 0.2438 0.4090 0.2211 0.2267 0.2628 0.3658 0.2032 0.1161 0.3604 0.2152 0.4007 0.2152 0.2201 0.2143 het 1939.36 219 19 35786868 . C T 1939.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.374;DP=219;Dels=0.00;FS=3.241;HRun=0;HaplotypeScore=2.7839;MQ=59.19;MQ0=0;MQRankSum=2.010;QD=8.86;ReadPosRankSum=0.053;VQSLOD=5.6550;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:138,80:219:99:1969,0,3567 19 35793589 35793589 C T exonic MAG synonymous SNV MAG:NM_001199216:exon7:c.C1134T:p.T378T,MAG:NM_002361:exon7:c.C1209T:p.T403T,MAG:NM_080600:exon7:c.C1209T:p.T403T 0.24 0.17 0.33 0.17 0.32 0.24 0.2834 0.2026 0.2861 0.1521 0.2840 0.3211 0.3238 0.2465 0.28 0.2 0.32 0.21 0.25 rs1126770 COSM3756653;COSM3756652 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2828 0.1970 0.2801 0.3219 0.1484 0.2775 0.3226 0.3091 0.2464 0.2754 0.1961 0.2969 0.3245 0.1391 0.2853 0.3304 0.2990 het 1839.73 128 19 35793589 . C T 1839.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.208;DP=128;Dels=0.00;FS=11.295;HRun=0;HaplotypeScore=4.7122;MQ=59.82;MQ0=0;MQRankSum=0.109;QD=14.37;ReadPosRankSum=0.244;VQSLOD=4.1606;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,67:128:99:1870,0,1471 19 35843086 35843086 G A exonic FFAR1 nonsynonymous SNV FFAR1:NM_005303:exon1:c.G632A:p.R211H 0.88 0.99 0.87 0.81 0.77 0.92 0.8263 0.9577 0.8224 0.8165 0.7592 0.7924 0.8342 0.9058 0.84 0.95 0.78 0.89 0.53 rs2301151 COSM3756654 1(pancreas);3(large_intestine) . . . . . . . . . . . 0.47 0.085 T 0.001 0.067 B 0.001 0.040 B 0.463 0.124 N 1 0.090 P 0.23 0.096 N 0.94 0.437 T -1.7 0.404 N 0.104 0.109 -1.030 0.204 T 0.000 0.000 T . . . 0.009 0.094 2.673 0.915 0.202 0.089 0.146 N c -1.547 -1.573 0.898 0.260 0.421 0.056 0 -4.61 0.031 0.274 0.183 -1.125 0.018 0.007 0.175 0.111 0.193 9.798 0.397 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000185897.6|ENSG00000105695.10|ENSG00000185897.6|ENSG00000105695.10|ENSG00000105695.10|ENSG00000263397.1|ENSG00000012124.10|ENSG00000269553.1|ENSG00000268222.1 Heart_Left_Ventricle|Lung|Muscle_Skeletal|Spleen|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.8111 0.9582 0.8040 0.8600 0.8098 0.7412 0.7745 0.8213 0.9036 0.8267 0.9509 0.8194 0.8642 0.8208 0.7411 0.7750 0.8186 hom 733.96 25 19 35843086 . G A 733.96 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9962;MQ=57.54;MQ0=0;QD=29.36;VQSLOD=7.2885;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:63.19:767,63,0 19 35991442 35991442 T G exonic DMKN nonsynonymous SNV DMKN:NM_001035516:exon2:c.A122C:p.D41A,DMKN:NM_001308383:exon7:c.A368C:p.D123A,DMKN:NM_001126059:exon8:c.A419C:p.D140A,DMKN:NM_001308380:exon8:c.A419C:p.D140A,DMKN:NM_001190347:exon12:c.A1157C:p.D386A,DMKN:NM_033317:exon12:c.A1280C:p.D427A,DMKN:NM_001126056:exon14:c.A1247C:p.D416A 1. 1. 1. 1. 1. 1. 0.9956 0.9984 0.9981 1 0.9967 0.9931 0.9977 0.9991 0.99 1. 0.99 1. 0.96 rs909072 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.022 0.268 N 1 0.090 P -2.015 0.002 N 2.32 0.166 T 5.47 0.006 N 0.045 0.544 -0.972 0.368 T 0.000 0.000 T . . . 0.019 0.095 2.770 0.753 0.106 0.001 0.007 N c -0.914 -0.896 0.286 0.190 0.672 0.522 0 4.11 0.472 1.119 0.307 0.026 0.148 0.002 0.151 0.015 0.124 9.445 0.377 . . . 0.9952 0.9985 0.9974 0.9984 1 0.9963 0.9919 0.9943 0.9989 0.9947 0.9987 0.9952 1 1 0.9946 0.9916 0.9949 hom 902.67 32 19 35991442 . T G 902.67 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.21;VQSLOD=13.3419;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:72.22:936,72,0 19 36003962 36003962 T C exonic DMKN nonsynonymous SNV DMKN:NM_001126056:exon1:c.A416G:p.N139S,DMKN:NM_001126057:exon1:c.A416G:p.N139S,DMKN:NM_001126058:exon1:c.A416G:p.N139S,DMKN:NM_001190347:exon1:c.A416G:p.N139S,DMKN:NM_001190348:exon1:c.A416G:p.N139S,DMKN:NM_001190349:exon1:c.A416G:p.N139S,DMKN:NM_033317:exon1:c.A416G:p.N139S 0.1 0.24 0.043 0.006 0.075 0.093 0.0788 0.2115 0.0354 0.0073 0.0435 0.0718 0.0776 0.1056 0.12 0.21 0.069 0.12 0.074 rs7247001 . . . . . . . . . . . . . 0.333 0.153 T 0.376 0.324 B 0.179 0.341 B . . . 1 0.090 P 0.845 0.213 L 2.8 0.170 T -1.04 0.342 N 0.016 0.129 -0.943 0.422 T 0.000 0.000 T . . . -0.953 0.034 0.020 0.550 0.051 0.016 0.051 N c -1.086 -1.191 0.512 0.210 0.560 0.301 0 0.85 0.180 -1.282 0.029 -1.255 0.015 0.000 0.063 0.018 0.130 4.491 0.111 . . . 0.0729 0.2124 0.0374 0.0726 0.0075 0.0456 0.0714 0.0639 0.1054 0.1009 0.2084 0.0514 0.0762 0.0087 0.0447 0.0668 0.0688 het 1232.48 81 19 36003962 . T C 1232.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.598;DP=81;Dels=0.00;FS=6.159;HRun=0;HaplotypeScore=0.9578;MQ=59.25;MQ0=0;MQRankSum=0.498;QD=15.22;ReadPosRankSum=1.379;VQSLOD=5.3037;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,44:81:99:1262,0,951 19 36004106 36004106 A G exonic DMKN nonsynonymous SNV DMKN:NM_001126056:exon1:c.T272C:p.V91A,DMKN:NM_001126057:exon1:c.T272C:p.V91A,DMKN:NM_001126058:exon1:c.T272C:p.V91A,DMKN:NM_001190347:exon1:c.T272C:p.V91A,DMKN:NM_001190348:exon1:c.T272C:p.V91A,DMKN:NM_001190349:exon1:c.T272C:p.V91A,DMKN:NM_033317:exon1:c.T272C:p.V91A 0.86 0.99 0.74 0.87 0.79 0.83 0.8067 0.9634 0.7284 0.8698 0.8317 0.7815 0.8002 0.8215 0.83 0.96 0.77 0.85 0.8 rs4806163 COSM3756665;COSM3756663;COSM3756664;COSM3756666 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.060 T 0.0 0.067 B 0.0 0.063 B . . . 1 0.090 P -0.06 0.049 N 2.62 0.199 T -0.05 0.078 N 0.028 0.245 -1.047 0.153 T 0.000 0.000 T . . . -1.128 0.027 0.009 0.469 0.037 0.016 0.052 N c -1.530 -1.507 0.718 0.229 0.653 0.482 0 -2.29 0.064 -0.110 0.107 -1.401 0.012 0.000 0.063 0.000 0.016 6.360 0.205 . ENSG00000161249.16 Thyroid 0.8004 0.9626 0.7358 0.7111 0.8677 0.8332 0.7822 0.7856 0.8264 0.8382 0.9609 0.7721 0.7086 0.8640 0.8302 0.7743 0.8024 hom 6078.58 178 19 36004106 . A G 6078.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.713;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1835;MQ=59.53;MQ0=0;MQRankSum=1.693;QD=34.15;ReadPosRankSum=1.499;VQSLOD=6.1927;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,177:178:99:6078,466,0 19 36015652 36015652 C T exonic SBSN synonymous SNV SBSN:NM_001166034:exon3:c.G1710A:p.S570S,SBSN:NM_001166035:exon3:c.G447A:p.S149S,SBSN:NM_198538:exon4:c.G681A:p.S227S 0.1 0.083 0.095 0.025 0.16 0.14 0.1396 0.1040 0.0597 0.0185 0.1852 0.1674 0.1489 0.1504 0.15 0.1 0.17 0.076 0.17 rs17705633 COSM5619402;COSM5619403 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1380 0.1 0.0676 0.1092 0.0185 0.1854 0.1729 0.1383 0.1486 0.1381 0.0961 0.0634 0.1167 0.0142 0.1929 0.1669 0.1513 het 1125.77 71 19 36015652 . C T 1125.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.512;DP=71;Dels=0.00;FS=3.435;HRun=0;HaplotypeScore=1.8660;MQ=60.00;MQ0=0;MQRankSum=0.610;QD=15.86;ReadPosRankSum=0.148;VQSLOD=6.2593;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,44:71:99:1156,0,654 19 36033460 36033460 C T exonic GAPDHS synonymous SNV GAPDHS:NM_014364:exon6:c.C609T:p.V203V 0.21 0.023 0.33 0.37 0.14 0.27 0.1936 0.0438 0.4246 0.3676 0.1775 0.1399 0.1807 0.2597 0.11 0.047 0.14 0.14 0.12 rs2239945 COSM3756669 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2038 0.0430 0.4054 0.1383 0.3653 0.1821 0.1361 0.1832 0.2593 0.1353 0.0436 0.3878 0.1325 0.3478 0.1802 0.1381 0.1838 het 1322.90 91 19 36033460 . C T 1322.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.929;DP=91;Dels=0.00;FS=1.819;HRun=1;HaplotypeScore=1.8401;MQ=59.49;MQ0=0;MQRankSum=1.232;QD=14.54;ReadPosRankSum=0.171;VQSLOD=6.6539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,50:91:99:1353,0,1099 19 36048741 36048741 G T exonic ATP4A synonymous SNV ATP4A:NM_000704:exon11:c.C1509A:p.I503I 0.28 0.17 0.23 0.27 0.41 0.34 0.3894 0.2310 0.1989 0.2946 0.4663 0.4335 0.4342 0.4549 0.29 0.18 0.35 0.098 0.23 rs2230181 COSM3756670 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3411 0.1862 0.1757 0.3875 0.2577 0.4214 0.3986 0.3622 0.4048 0.3209 0.1927 0.2017 0.3733 0.275 0.4100 0.3833 0.3584 hom 571.28 19 19 36048741 . G T 571.28 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=30.07;VQSLOD=8.6699;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:51.13:604,51,0 19 36050969 36050969 A G exonic ATP4A nonsynonymous SNV ATP4A:NM_000704:exon7:c.T794C:p.V265A 0.77 0.99 0.62 0.47 0.89 0.78 0.8228 0.9769 0.4972 0.4780 0.8667 0.9021 0.8530 0.7974 0.93 0.98 0.9 0.85 0.8 rs2733743 COSM3749496 1(thyroid);4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.992 0.239 P -2.71 0.000 N -2.56 0.896 D 2.42 0.003 N 0.127 0.144 -0.941 0.425 T 0.000 0.000 T . . . -0.713 0.044 0.067 0.140 0.003 0.040 0.094 N c -1.210 -0.978 1.000 0.462 0.556 0.300 0 3.01 0.337 8.156 0.895 0.136 0.221 1.000 0.715 0.223 0.222 7.529 0.267 P-type ATPase\x2c A domain . . 0.8080 0.9769 0.5201 0.9446 0.4810 0.8608 0.9005 0.8383 0.8013 0.8868 0.9743 0.5789 0.9801 0.4932 0.8639 0.9001 0.8671 hom 2426.97 72 19 36050969 . A G 2426.97 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.71;VQSLOD=13.7105;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2460,196,0 19 36207510 36207510 G A exonic ZBTB32 synonymous SNV ZBTB32:NM_001316903:exon6:c.G324A:p.L108L,ZBTB32:NM_001316902:exon7:c.G489A:p.L163L,ZBTB32:NM_014383:exon7:c.G1320A:p.L440L 0.042 0.0068 0.059 . 0.13 0.032 0.1006 0.0257 0.0690 0.0002 0.0987 0.1449 0.1441 0.0415 0.11 0.033 0.14 0.022 0.12 rs1052491 COSM3756675 1(breast);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1008 0.0249 0.0692 0.1489 0.0001 0.0986 0.1475 0.1251 0.0421 0.1014 0.0279 0.0873 0.1689 0.0006 0.0987 0.1544 0.1122 het 1874.54 143 19 36207510 . G A 1874.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.612;DP=143;Dels=0.00;FS=7.446;HRun=0;HaplotypeScore=5.5524;MQ=59.53;MQ0=0;MQRankSum=-0.664;QD=13.11;ReadPosRankSum=-0.639;VQSLOD=3.8211;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,69:143:99:1905,0,2317 19 36243089 36243089 T C exonic LIN37 nonsynonymous SNV LIN37:NM_019104:exon2:c.T47C:p.V16A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.98 . rs170758 COSM4591846 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1.0000 0.9999 1 1 1 1 1 1 hom 527.38 19 19 36243089 . T C 527.38 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.76;VQSLOD=13.1331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:45.12:560,45,0 19 36278470 36278470 C G exonic ARHGAP33 synonymous SNV ARHGAP33:NM_052948:exon21:c.C2520G:p.A840A 0.53 0.66 0.59 0.63 0.37 0.41 0.4522 0.6322 0.6024 0.6591 0.4859 0.3860 0.4095 0.3861 0.44 0.6 0.36 0.52 0.24 rs231235 COSM5459854;COSM5459853 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4540 0.6302 0.6045 0.3005 0.6681 0.4781 0.3807 0.4143 0.3853 0.4848 0.6171 0.5767 0.3311 0.6793 0.4611 0.3917 0.4630 het 541.01 42 19 36278470 . C G 541.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.135;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;MQRankSum=1.221;QD=12.88;ReadPosRankSum=-0.139;VQSLOD=6.0174;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,22:42:99:571,0,630 19 36290977 36290977 C T exonic PRODH2 nonsynonymous SNV PRODH2:NM_021232:exon11:c.G1574A:p.R525Q 0.059 0.02 0.053 0.16 0.054 0.022 0.0557 0.0239 0.0349 0.1729 0.0161 0.0562 0.0325 0.0334 0.039 0.02 0.048 0.011 0.025 rs3761097 COSM1392976 1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.553 0.363 P 0.047 0.234 B . . . 0.007 0.417 P 3.44 0.923 M 1.46 0.322 T -3.08 0.633 D 0.115 0.126 -1.091 0.054 T 0.000 0.002 T . . . 4.668 0.626 24.5 0.999 0.992 0.453 0.273 N c -0.135 -0.190 0.003 0.099 0.497 0.185 0 3.15 0.351 1.648 0.367 0.935 0.490 0.286 0.250 0.154 0.206 9.672 0.390 FAD-linked oxidoreductase-like . . 0.0488 0.0218 0.0315 0.0615 0.1733 0.0138 0.0496 0.0461 0.0293 0.0422 0.0213 0.0323 0.0762 0.1599 0.0183 0.0480 0.0297 het 130.48 29 19 36290977 . C T 130.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.229;DP=29;Dels=0.00;FS=3.785;HRun=0;HaplotypeScore=0.9987;MQ=59.20;MQ0=0;MQRankSum=-0.790;QD=4.50;ReadPosRankSum=-0.535;VQSLOD=3.7741;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,7:29:99:160,0,591 19 36302921 36302921 T C exonic PRODH2 synonymous SNV PRODH2:NM_021232:exon5:c.A768G:p.P256P 0.23 0.14 0.28 0.32 0.27 0.2 0.2622 0.1467 0.3163 0.3268 0.3326 0.2688 0.2611 0.2086 0.23 0.15 0.27 0.2 0.25 rs12462360 COSM4419480 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2669 0.1464 0.3154 0.1584 0.3253 0.3361 0.2718 0.2609 0.2093 0.2511 0.1446 0.2912 0.1192 0.3139 0.3297 0.2853 0.2994 het 1166.97 104 19 36302921 . T C 1166.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.795;DP=104;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6609;MQ=60.00;MQ0=0;MQRankSum=0.581;QD=11.22;ReadPosRankSum=2.404;VQSLOD=5.4643;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,47:104:99:1197,0,1462 19 36303664 36303664 G C exonic PRODH2 nonsynonymous SNV PRODH2:NM_021232:exon2:c.C272G:p.P91R 0.054 0.0061 0.097 . 0.16 0.041 0.1185 0.0284 0.0599 0.0003 0.1629 0.1643 0.1581 0.0690 0.12 0.033 0.17 0.043 0.13 rs3848666 COSM4131709 1(thyroid) . . . . . . . . . . . 0.142 0.254 T 0.004 0.112 B 0.002 0.063 B . . . 1 0.090 P 0.69 0.170 N 1.89 0.237 T -0.99 0.262 N 0.038 0.018 -0.996 0.312 T 0.000 0.000 T . . . -1.796 0.011 0.002 0.620 0.067 0.316 0.241 N c -1.564 -1.525 1.000 0.467 0.428 0.059 0 0.647 0.169 1.052 0.298 -0.834 0.030 0.018 0.193 0.000 0.016 6.956 0.236 . . . 0.1146 0.0266 0.0665 0.0761 0.0003 0.1620 0.1667 0.1304 0.0621 0.1162 0.0327 0.0837 0.0728 0.0006 0.1579 0.1692 0.1337 het 739.07 46 19 36303664 . G C 739.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.664;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8899;MQ=60.00;MQ0=0;MQRankSum=-1.165;QD=16.07;ReadPosRankSum=0.173;VQSLOD=5.4711;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,30:46:99:769,0,411 19 36322270 36322270 C T exonic NPHS1 synonymous SNV NPHS1:NM_004646:exon26:c.G3315A:p.S1105S 0.37 0.054 0.39 0.67 0.37 0.46 0.3923 0.1002 0.4190 0.6509 0.4964 0.3846 0.4009 0.4116 0.29 0.11 0.38 0.29 0.35 rs2071327 . . Benign|Likely benign not_specified|Finnish_congenital_nephrotic_syndrome RCV000246751.1|RCV000361802.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0403399:256300:ORPHA839:197601003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4002 0.0983 0.4221 0.3524 0.6489 0.4914 0.3811 0.3808 0.4093 0.3450 0.1009 0.4163 0.3146 0.6669 0.4811 0.4123 0.4252 het 3964.35 226 19 36322270 . C T 3964.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.367;DP=226;Dels=0.00;FS=0.531;HRun=0;HaplotypeScore=9.2030;MQ=59.18;MQ0=0;MQRankSum=-0.239;QD=17.54;ReadPosRankSum=-0.368;VQSLOD=3.7205;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,115:226:99:3367,0,2926 19 36342212 36342212 C T exonic NPHS1 nonsynonymous SNV NPHS1:NM_004646:exon3:c.G349A:p.E117K 0.29 0.056 0.34 0.6 0.31 0.24 0.3148 0.0854 0.4341 0.6053 0.3727 0.3051 0.3144 0.2400 0.23 0.092 0.31 0.28 0.14 rs3814995 COSM3756680 1(pancreas);1(large_intestine) Benign|Likely benign not_specified|Finnish_congenital_nephrotic_syndrome RCV000249474.1|RCV000364963.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0403399:256300:ORPHA839:197601003 . . . . . . 0.096 0.310 T 0.999 0.764 D 0.973 0.713 D 0.000 0.629 D 0.000 0.588 P 1.81 0.478 L -0.18 0.658 T -1.25 0.316 N 0.287 0.388 -1.004 0.287 T 0.000 0.000 T . . . 5.625 0.766 26.6 0.999 0.964 0.772 0.377 D c 0.235 0.224 1.000 0.747 0.443 0.080 1 5.92 0.955 3.480 0.527 0.935 0.490 0.994 0.380 0.016 0.126 17.896 0.888 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain . . 0.3236 0.0787 0.4218 0.2580 0.6122 0.3577 0.3071 0.3130 0.2355 0.2822 0.0860 0.4005 0.2318 0.6493 0.3622 0.3293 0.3381 het 437.86 43 19 36342212 . C T 437.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.972;DP=43;Dels=0.00;FS=2.600;HRun=1;HaplotypeScore=0.8667;MQ=59.46;MQ0=0;MQRankSum=1.416;QD=10.18;ReadPosRankSum=-0.505;VQSLOD=6.4796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,18:43:99:468,0,612 19 36355595 36355595 A G exonic KIRREL2 nonsynonymous SNV KIRREL2:NM_001329530:exon13:c.A1621G:p.K541E,KIRREL2:NM_199179:exon13:c.A1621G:p.K541E,KIRREL2:NM_032123:exon14:c.A1771G:p.K591E,KIRREL2:NM_199180:exon14:c.A1771G:p.K591E 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 1 1 1 1 1 . . . 1. 1. rs382789 COSM4590141;COSM4590142 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 3597.36 112 19 36355595 . A G 3597.36 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8963;MQ=59.25;MQ0=0;QD=32.12;VQSLOD=8.6735;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3597,283,0 19 36497358 36497358 C G exonic SYNE4 nonsynonymous SNV SYNE4:NM_001297735:exon3:c.G495C:p.Q165H,SYNE4:NM_001039876:exon5:c.G834C:p.Q278H 0.91 1. 0.95 0.81 0.95 0.84 0.9274 0.9892 0.9454 0.7957 0.9542 0.9475 0.9394 0.8544 0.96 0.99 0.95 0.92 0.57 rs2285422 COSM4131721 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign not_specified RCV000221990.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.442 0.126 N 1 0.090 P -1.63 0.004 N 1.52 0.307 T 4.36 0.006 N 0.059 0.043 -0.998 0.304 T 0.000 0.000 T . . . -0.966 0.033 0.019 0.670 0.080 0.003 0.018 N c -1.459 -1.371 0.006 0.110 0.706 0.609 0 -1.04 0.095 -0.167 0.098 -0.334 0.073 0.006 0.172 0.685 0.306 4.697 0.121 . . . 0.9271 0.9902 0.9476 0.9060 0.7935 0.9532 0.9482 0.9404 0.8578 0.9485 0.9876 0.9391 0.9172 0.8116 0.9473 0.9431 0.9293 hom 1173.18 35 19 36497358 . C G 1173.18 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.15;MQ0=0;QD=33.52;VQSLOD=7.8612;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:93.30:1206,93,0 19 36574063 36574063 C T exonic WDR62 synonymous SNV WDR62:NM_001083961:exon11:c.C1470T:p.D490D,WDR62:NM_173636:exon11:c.C1470T:p.D490D 0.13 0.27 0.076 . 0.13 0.085 0.1168 0.2518 0.0798 0.0003 0.1320 0.1212 0.1131 0.0976 0.15 0.23 0.1 0.11 0.082 rs45567532 COSM5654372 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign not_specified|Primary_Microcephaly_2_With_or_Without_Cortical_Malformations RCV000147914.2|RCV000305795.1 MedGen|MedGen CN169374|CN239163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1029 0.2355 0.0733 0.1282 0.0002 0.1128 0.1082 0.1242 0.0904 0.1337 0.2304 0.0875 0.1589 0.0006 0.0993 0.1031 0.1184 het 231.74 26 19 36574063 . C T 231.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.401;DP=26;Dels=0.00;FS=10.101;HRun=0;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;MQRankSum=0.539;QD=8.91;ReadPosRankSum=-1.240;VQSLOD=3.4951;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,9:26:99:262,0,423 19 36583651 36583651 G A exonic WDR62 synonymous SNV WDR62:NM_001083961:exon19:c.G2271A:p.L757L,WDR62:NM_173636:exon19:c.G2271A:p.L757L 0.12 0.26 0.073 . 0.13 0.085 0.1064 0.2275 0.0723 0.0001 0.1112 0.1110 0.1060 0.0894 0.15 0.23 0.1 0.11 0.09 rs61494900 . . Benign|Likely benign not_specified|Primary_Microcephaly_2_With_or_Without_Cortical_Malformations RCV000147931.2|RCV000337058.1 MedGen|MedGen CN169374|CN239163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1045 0.2324 0.0739 0.1288 0.0002 0.1137 0.1109 0.1247 0.0913 0.1317 0.2236 0.0871 0.1589 0.0006 0.0994 0.1030 0.1166 het 2585.59 209 19 36583651 . G A 2585.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.441;DP=209;Dels=0.00;FS=7.037;HRun=0;HaplotypeScore=4.8089;MQ=59.38;MQ0=0;MQRankSum=0.572;QD=12.37;ReadPosRankSum=-1.201;VQSLOD=3.9990;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,97:209:99:2616,0,3031 19 36590329 36590329 T C exonic WDR62 nonsynonymous SNV WDR62:NM_001083961:exon22:c.T2549C:p.L850S,WDR62:NM_173636:exon22:c.T2549C:p.L850S 0.65 0.76 0.71 0.61 0.68 0.5 0.6426 0.7283 0.6900 0.5803 0.7398 0.6550 0.6395 0.5027 0.67 0.72 0.65 0.7 0.56 rs2285745 COSM4131728 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) Benign|Likely benign not_specified|Primary_Microcephaly_2_With_or_Without_Cortical_Malformations RCV000147938.2|RCV000407227.1 MedGen|MedGen CN169374|CN239163 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.948 0.083 N 1 0.090 P -2.08 0.002 N 0.86 0.468 T 2.18 0.003 N 0.014 0.002 -0.952 0.406 T 0.000 0.000 T . . . -0.136 0.081 1.480 0.234 0.010 0.003 0.017 N c -1.204 -1.029 0.882 0.256 0.635 0.413 0 4.25 0.495 0.558 0.230 0.016 0.142 0.000 0.063 0.786 0.332 7.517 0.266 . ENSG00000075702.12|ENSG00000075702.12 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.6470 0.7310 0.6909 0.6030 0.5828 0.7386 0.6568 0.6462 0.5075 0.6888 0.7289 0.6862 0.5795 0.6012 0.7298 0.6681 0.6851 hom 1753.14 57 19 36590329 . T C 1753.14 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7205;MQ=60.00;MQ0=0;QD=30.76;VQSLOD=7.9267;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1786,147,0 19 36594063 36594063 C T exonic WDR62 synonymous SNV WDR62:NM_001083961:exon29:c.C3468T:p.L1156L,WDR62:NM_173636:exon29:c.C3453T:p.L1151L 0.12 0.26 0.072 . 0.13 0.086 0.1060 0.2221 0.0712 0.0001 0.1132 0.1114 0.1022 0.0889 0.14 0.22 0.1 0.11 0.09 rs17851502 . . Benign|Likely benign not_specified|Primary_Microcephaly_2_With_or_Without_Cortical_Malformations RCV000147957.2|RCV000372454.1 MedGen|MedGen CN169374|CN239163 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1037 0.2251 0.0728 0.1289 0.0002 0.1139 0.1107 0.1245 0.0908 0.1305 0.2195 0.0849 0.1589 0.0006 0.0997 0.1029 0.1163 het 915.11 71 19 36594063 . C T 915.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.447;DP=71;Dels=0.00;FS=0.970;HRun=1;HaplotypeScore=0.9832;MQ=59.41;MQ0=0;MQRankSum=-0.035;QD=12.89;ReadPosRankSum=1.471;VQSLOD=6.2267;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,37:71:99:945,0,827 19 36594659 36594659 A T exonic WDR62 nonsynonymous SNV WDR62:NM_001083961:exon30:c.A3929T:p.Q1310L,WDR62:NM_173636:exon30:c.A3914T:p.Q1305L 0.73 0.82 0.74 0.8 0.63 0.64 0.6536 0.7891 0.7698 0.7792 0.6442 0.6074 0.6031 0.6142 0.67 0.78 0.61 0.71 0.5 rs2074435 COSM3756682 1(thyroid);1(large_intestine);1(biliary_tract) Benign|Benign not_specified|Primary_Microcephaly_2_With_or_Without_Cortical_Malformations RCV000079454.6|RCV000403416.1 MedGen|MedGen CN169374|CN239163 . . . . . . 0.186 0.219 T 0.0 0.026 B 0.0 0.013 B 0.581 0.055 N 1 0.090 P -1.495 0.005 N 1.25 0.379 T -0.03 0.075 N 0.032 0.012 -0.988 0.330 T 0.000 0.000 T . . . -0.103 0.084 1.711 0.714 0.093 0.003 0.018 N c -1.376 -1.319 0.747 0.233 0.672 0.522 0 2.09 0.260 0.510 0.223 -0.221 0.097 0.000 0.063 0.000 0.016 2.656 0.047 . ENSG00000161277.9|ENSG00000075702.12|ENSG00000075702.12|ENSG00000105258.4|ENSG00000105258.4 Cells_Transformed_fibroblasts|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.6570 0.7946 0.7629 0.5984 0.7775 0.6450 0.6075 0.6403 0.6146 0.6784 0.7875 0.7584 0.5828 0.8004 0.6260 0.6132 0.6524 het 1887.18 119 19 36594659 . A T 1887.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.159;DP=119;Dels=0.00;FS=8.803;HRun=0;HaplotypeScore=4.3591;MQ=59.45;MQ0=0;MQRankSum=-1.047;QD=15.86;ReadPosRankSum=-0.498;VQSLOD=3.4590;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,69:119:99:1917,0,1378 19 36594853 36594853 G A exonic WDR62 nonsynonymous SNV WDR62:NM_001083961:exon30:c.G4123A:p.G1375S,WDR62:NM_173636:exon30:c.G4108A:p.G1370S 0.02 0.003 0.026 . 0.064 0.016 0.0390 0.0077 0.0304 0 0.0483 0.0536 0.0441 0.0216 0.033 0.0086 0.045 0.011 0.041 rs17851503 COSM3692688 3(large_intestine) Benign|Uncertain significance not_specified|Primary_Microcephaly_2_With_or_Without_Cortical_Malformations RCV000147969.2|RCV000368698.1 MedGen|MedGen CN169374|CN239163 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.459 0.124 N 1 0.090 N -1.545 0.005 N 1.35 0.363 T 1.29 0.010 N 0.004 0.000 -1.014 0.257 T 0.003 0.008 T . . . -0.949 0.034 0.020 0.357 0.022 0.015 0.049 N c -1.758 -1.692 1.000 0.747 0.672 0.522 0 -1.55 0.081 0.030 0.135 -1.410 0.012 0.000 0.063 0.000 0.016 3.814 0.083 . ENSG00000105270.10|ENSG00000075702.12|ENSG00000105254.7|ENSG00000075702.12 Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.0382 0.0068 0.0286 0.0615 0.0001 0.0473 0.0518 0.0489 0.0230 0.0337 0.0076 0.0418 0.0795 0 0.0432 0.0486 0.0387 het 810.75 77 19 36594853 . G A 810.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.288;DP=77;Dels=0.00;FS=0.886;HRun=0;HaplotypeScore=0.8321;MQ=59.16;MQ0=0;MQRankSum=-1.646;QD=10.53;ReadPosRankSum=-0.037;VQSLOD=5.0820;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,32:77:99:841,0,1168 19 36595436 36595436 A C exonic WDR62 nonsynonymous SNV WDR62:NM_001083961:exon31:c.A4170C:p.L1390F,WDR62:NM_173636:exon31:c.A4155C:p.L1385F 0.72 0.7 0.78 0.75 0.78 0.58 0.7428 0.6920 0.8018 0.7473 0.7799 0.7708 0.7124 0.6046 0.75 0.7 0.78 0.79 0.71 rs1008328 COSM1129883 2(prostate);1(thyroid);1(upper_aerodigestive_tract) Benign|Benign not_specified|Primary_Microcephaly_2_With_or_Without_Cortical_Malformations RCV000147972.5|RCV000353726.1 MedGen|MedGen CN169374|CN239163 . . . . . . 0.307 0.157 T 0.002 0.090 B 0.003 0.080 B 0.000 0.003 N 1 0.090 P -0.345 0.033 N 0.92 0.478 T -0.38 0.134 N 0.014 0.002 -0.954 0.403 T 0.000 0.000 T . . . -0.157 0.080 1.345 0.536 0.049 0.002 0.010 N c -1.279 -1.253 1.000 0.747 0.632 0.406 0 1.96 0.251 -0.126 0.105 -0.906 0.026 0.000 0.063 0.000 0.016 2.866 0.052 . ENSG00000075702.12|ENSG00000075702.12 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.7505 0.6991 0.8083 0.7580 0.7515 0.7712 0.7744 0.7601 0.6069 0.7514 0.6984 0.8038 0.7947 0.7506 0.7721 0.7751 0.7301 het 1509.28 112 19 36595436 . A C 1509.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.640;DP=112;Dels=0.00;FS=10.487;HRun=1;HaplotypeScore=2.3913;MQ=59.22;MQ0=0;MQRankSum=1.478;QD=13.48;ReadPosRankSum=0.058;VQSLOD=4.3306;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1539,0,1453 19 36674305 36674305 A G exonic ZNF565 nonsynonymous SNV ZNF565:NM_001042474:exon5:c.T563C:p.I188T,ZNF565:NM_152477:exon5:c.T563C:p.I188T 0.63 0.85 0.64 0.6 0.52 0.46 0.5543 0.7972 0.6685 0.6279 0.5286 0.5145 0.4923 0.4576 0.61 0.78 0.53 0.63 0.59 rs4805162 COSM5617707 1(breast) . . . . . . . . . . . 0.167 0.231 T 0.003 0.102 B 0.018 0.173 B 0.096 0.201 N 1 0.090 P 1.26 0.320 L 3.73 0.040 T -2.98 0.620 D 0.017 0.003 -1.106 0.034 T 0.000 0.000 T . . . 1.407 0.232 12.83 0.923 0.211 0.038 0.090 N c -1.022 -0.932 1.000 0.517 0.713 0.819 0 0.744 0.174 -0.392 0.073 -0.023 0.128 0.000 0.063 0.979 0.486 7.891 0.287 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000232677.2|ENSG00000232677.2|ENSG00000232677.2|ENSG00000198453.8|ENSG00000196357.7|ENSG00000196357.7|ENSG00000161281.6|ENSG00000232677.2|ENSG00000161281.6|ENSG00000232677.2|ENSG00000232677.2|ENSG00000232677.2|ENSG00000232677.2|ENSG00000267053.2|ENSG00000232677.2|ENSG00000232677.2|ENSG00000196357.7|ENSG00000161281.6|ENSG00000232677.2 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Putamen_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.5544 0.8003 0.6650 0.5386 0.6255 0.5139 0.5159 0.5420 0.4483 0.6057 0.7949 0.6651 0.5397 0.6224 0.5181 0.5169 0.5297 hom 4196.80 121 19 36674305 . A G 4196.80 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5317;MQ=59.50;MQ0=0;QD=34.68;VQSLOD=8.8677;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:4196,331,0 19 36674413 36674413 G A exonic ZNF565 nonsynonymous SNV ZNF565:NM_001042474:exon5:c.C455T:p.T152M,ZNF565:NM_152477:exon5:c.C455T:p.T152M . . . . . . 0.0002 0 0 0 0 0 0 0.0012 . . . . . rs551908942 . . . . . . . . . . . . . 0.023 0.481 D 0.005 0.119 B 0.012 0.149 B 0.295 0.147 N 1 0.090 N 2.42 0.702 M 3.23 0.087 T -2.82 0.595 D 0.209 0.280 -0.981 0.347 T 0.014 0.054 T 0.005 0.117 T 0.168 0.110 4.341 0.865 0.160 0.030 0.078 N c -1.262 -1.369 1.000 0.747 0.563 0.310 0 -3.03 0.051 0.153 0.160 -0.251 0.090 0.000 0.063 0.000 0.016 1.269 0.019 . . . 0.0002 6.534e-05 0 0 0 0 0 0 0.0014 . . . . . . . . het 3957.38 250 19 36674413 . G A 3957.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.578;DP=250;DS;Dels=0.00;FS=5.472;HRun=0;HaplotypeScore=3.6945;MQ=59.55;MQ0=0;MQRankSum=2.471;QD=15.83;ReadPosRankSum=0.409;VQSLOD=2.4747;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3288,0,3444 19 36940760 36940760 G T exonic ZNF566 synonymous SNV ZNF566:NM_001300970:exon4:c.C64A:p.R22R,ZNF566:NM_001145343:exon5:c.C379A:p.R127R,ZNF566:NM_001145344:exon5:c.C376A:p.R126R,ZNF566:NM_001145345:exon5:c.C376A:p.R126R,ZNF566:NM_032838:exon5:c.C376A:p.R126R 0.5 0.6 0.4 0.27 0.59 0.57 0.5334 0.6123 0.2952 0.2785 0.6089 0.5803 0.5518 0.5634 0.6 0.61 0.59 0.47 0.57 rs2967532 COSM3756685;COSM3756686 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5273 0.6186 0.3214 0.5702 0.2782 0.6173 0.5823 0.5374 0.5659 0.5759 0.6199 0.3831 0.6067 0.2722 0.6229 0.5834 0.5551 het 2376.79 211 19 36940760 . G T 2376.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.824;DP=211;Dels=0.00;FS=9.232;HRun=0;HaplotypeScore=6.9660;MQ=58.92;MQ0=0;MQRankSum=1.172;QD=11.26;ReadPosRankSum=-0.815;VQSLOD=4.1675;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,98:211:99:2407,0,3141 19 37004938 37004938 T C exonic ZNF260 synonymous SNV ZNF260:NM_001166037:exon3:c.A1203G:p.S401S,ZNF260:NM_001166038:exon3:c.A1203G:p.S401S,ZNF260:NM_001012756:exon4:c.A1203G:p.S401S,ZNF260:NM_001166036:exon4:c.A1203G:p.S401S 0.34 0.42 0.25 0.24 0.35 0.42 0.3264 0.4146 0.1890 0.2573 0.3452 0.3264 0.3411 0.3947 0.37 0.42 0.34 0.35 0.35 rs2967505 COSM3756687 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3229 0.4169 0.2058 0.3499 0.2586 0.3552 0.3278 0.3195 0.3906 0.3431 0.4065 0.2309 0.3775 0.2491 0.3578 0.3200 0.3194 het 1313.74 102 19 37004938 . T C 1313.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.309;DP=102;Dels=0.00;FS=3.817;HRun=0;HaplotypeScore=0.9997;MQ=59.55;MQ0=0;MQRankSum=-1.724;QD=12.88;ReadPosRankSum=-0.231;VQSLOD=5.7602;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,52:102:99:1344,0,1330 19 37005998 37005998 A G exonic ZNF260 nonsynonymous SNV ZNF260:NM_001166037:exon3:c.T143C:p.M48T,ZNF260:NM_001166038:exon3:c.T143C:p.M48T,ZNF260:NM_001012756:exon4:c.T143C:p.M48T,ZNF260:NM_001166036:exon4:c.T143C:p.M48T 0.028 . 0.026 0.059 0.026 0.038 0.0221 0.0035 0.0278 0.0625 0.0358 0.0170 0.0188 0.0240 0.013 0.0039 0.018 0.022 0.033 rs61743049 . . . . . . . . . . . . . 0.274 0.158 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 N -1.515 0.005 N 2.44 0.152 T -1.01 0.266 N 0.058 0.041 -0.982 0.345 T 0.002 0.007 T . . . -0.884 0.037 0.028 0.415 0.030 0.144 0.182 N c -1.065 -0.982 0.033 0.141 0.563 0.310 0 2.22 0.270 0.120 0.154 0.150 0.237 0.000 0.063 0.578 0.284 7.733 0.278 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0234 0.0035 0.0292 0.0030 0.0632 0.0375 0.0173 0.0214 0.0238 0.0191 0.0049 0.0288 0.0033 0.0656 0.0424 0.0165 0.0224 het 1884.02 168 19 37005998 . A G 1884.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.099;DP=168;Dels=0.00;FS=2.714;HRun=0;HaplotypeScore=3.4373;MQ=58.58;MQ0=0;MQRankSum=0.114;QD=11.21;ReadPosRankSum=1.188;VQSLOD=4.9660;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,78:168:99:1914,0,2269 19 37038092 37038092 T C exonic ZNF529 synonymous SNV ZNF529:NM_001145650:exon5:c.A1314G:p.G438G,ZNF529:NM_020951:exon5:c.A1368G:p.G456G,ZNF529:NM_001145649:exon6:c.A1368G:p.G456G,ZNF529:NM_001321351:exon6:c.A1053G:p.G351G 0.23 0.28 0.19 0.18 0.24 0.21 0.2187 0.2655 0.1765 0.2141 0.2319 0.2304 0.2194 0.1697 0.23 0.25 0.22 0.25 . rs2278168 COSM4785144;COSM3756688;COSM3756689 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2156 0.2639 0.1814 0.1939 0.2148 0.2371 0.2305 0.2147 0.1668 0.2420 0.2574 0.1695 0.1967 0.2082 0.2454 0.2401 0.2541 het 1192.19 73 19 37038092 . T C 1192.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.395;DP=73;Dels=0.00;FS=3.128;HRun=2;HaplotypeScore=8.1966;MQ=59.17;MQ0=0;MQRankSum=0.870;QD=16.33;ReadPosRankSum=0.648;VQSLOD=4.4007;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:33,40:73:99:1222,0,796 19 37039069 37039069 A C exonic ZNF529 nonsynonymous SNV ZNF529:NM_001145650:exon5:c.T337G:p.L113V,ZNF529:NM_020951:exon5:c.T391G:p.L131V,ZNF529:NM_001145649:exon6:c.T391G:p.L131V,ZNF529:NM_001321351:exon6:c.T76G:p.L26V 0.65 0.82 0.57 0.42 0.69 0.67 0.6472 0.8018 0.4774 0.4625 0.6853 0.6766 0.6465 0.6368 0.72 0.81 0.68 0.65 . rs2912444 COSM4000688;COSM4000689 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P -0.55 0.024 N 3.15 0.456 T . . . 0.008 0.005 -1.012 0.261 T 0.000 0.000 T . . . -2.912 0.001 0.001 0.397 0.027 0.000 0.000 N c -1.356 -1.595 0.999 0.385 0.719 0.830 0 -7.66 0.011 -0.725 0.050 -0.951 0.024 0.000 0.063 0.000 0.016 2.060 0.033 . ENSG00000245680.5|ENSG00000233527.4|ENSG00000189042.9|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000254004.2|ENSG00000226686.3|ENSG00000232677.2|ENSG00000232677.2|ENSG00000189042.9|ENSG00000189042.9|ENSG00000186017.10|ENSG00000189042.9|ENSG00000254004.2|ENSG00000189042.9 Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.6401 0.8044 0.4985 0.6217 0.4648 0.6903 0.6819 0.6375 0.6295 0.6986 0.7911 0.5143 0.6233 0.4384 0.7002 0.6849 0.6881 hom 1857.14 59 19 37039069 . A C 1857.14 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.48;VQSLOD=13.8347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1890,162,0 19 37117302 37117302 A G exonic ZNF382 nonsynonymous SNV ZNF382:NM_001256838:exon5:c.A500G:p.E167G,ZNF382:NM_032825:exon5:c.A503G:p.E168G 0.68 0.75 0.65 0.81 0.6 0.55 0.6474 0.7302 0.6746 0.8173 0.6297 0.6276 0.6272 0.5732 0.65 0.72 0.62 0.7 0.5 rs3108171 COSM3756691;COSM3756690 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.103 0.243 B 0.117 0.304 B 0.013 0.290 N 0.783 0.293 P 0.095 0.085 N 3.4 0.057 T 2.49 0.006 N 0.172 0.260 -0.984 0.341 T 0.000 0.000 T . . . 0.055 0.099 3.137 0.072 0.000 0.709 0.345 D c -0.665 -0.423 0.002 0.093 0.615 0.372 0 3.82 0.430 0.154 0.160 1.199 0.960 0.000 0.063 0.975 0.474 8.498 0.321 . ENSG00000233527.4|ENSG00000189042.9|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000189042.9|ENSG00000189042.9|ENSG00000233527.4|ENSG00000233527.4|ENSG00000233527.4|ENSG00000189042.9|ENSG00000233527.4|ENSG00000233527.4|ENSG00000225975.2|ENSG00000233527.4|ENSG00000186020.8|ENSG00000189042.9|ENSG00000189042.9|ENSG00000189042.9|ENSG00000233527.4|ENSG00000189042.9|ENSG00000225975.2|ENSG00000225975.2|ENSG00000233527.4|ENSG00000189042.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid 0.6441 0.7352 0.6609 0.6406 0.8153 0.6291 0.6230 0.6351 0.5687 0.6697 0.7297 0.6651 0.6722 0.8209 0.6279 0.6292 0.6578 het 2280.53 196 19 37117302 . A G 2280.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.682;DP=196;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.1687;MQ=58.45;MQ0=0;MQRankSum=1.133;QD=11.64;ReadPosRankSum=-1.496;VQSLOD=4.5697;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,94:196:99:2311,0,2418 19 37118439 37118439 C T exonic ZNF382 nonsynonymous SNV ZNF382:NM_001256838:exon5:c.C1637T:p.T546M,ZNF382:NM_032825:exon5:c.C1640T:p.T547M 0.13 0.011 0.12 0.14 0.23 0.18 0.1852 0.0374 0.0833 0.1698 0.2310 0.2300 0.1903 0.1571 0.16 0.039 0.22 0.087 0.23 rs61732180 COSM3756693;COSM3756692 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.191 0.282 T 0.0 0.026 B 0.0 0.013 B 0.411 0.046 N 1 0.090 P 0.47 0.131 N 3.35 0.060 T -2.21 0.496 N 0.054 0.061 -0.927 0.446 T 0.000 0.000 T . . . 0.624 0.154 8.322 0.865 0.160 0.010 0.037 N c -0.959 -0.956 0.003 0.099 0.638 0.428 0 1.99 0.253 -0.003 0.127 0.149 0.237 0.000 0.063 0.883 0.370 5.496 0.160 Zinc finger\x2c C2H2 ENSG00000233527.4|ENSG00000245680.5|ENSG00000233527.4|ENSG00000161298.12|ENSG00000161298.12|ENSG00000186020.8|ENSG00000245680.5|ENSG00000232677.2|ENSG00000233527.4|ENSG00000232677.2 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Lung|Skin_Sun_Exposed_Lower_leg 0.1828 0.0335 0.0920 0.1914 0.1711 0.2369 0.2294 0.1875 0.1514 0.1742 0.0363 0.0943 0.1954 0.1675 0.2447 0.2388 0.2363 het 482.32 38 19 37118439 . C T 482.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.131;DP=38;Dels=0.00;FS=5.440;HRun=0;HaplotypeScore=0.7887;MQ=59.01;MQ0=0;MQRankSum=0.905;QD=12.69;ReadPosRankSum=-2.306;VQSLOD=4.5889;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,19:38:99:512,0,538 19 37210529 37210529 A G exonic ZNF567 synonymous SNV ZNF567:NM_001322911:exon5:c.A810G:p.R270R,ZNF567:NM_001322912:exon5:c.A810G:p.R270R,ZNF567:NM_152603:exon5:c.A810G:p.R270R,ZNF567:NM_001300979:exon6:c.A903G:p.R301R,ZNF567:NM_001322913:exon6:c.A903G:p.R301R,ZNF567:NM_001322914:exon6:c.A903G:p.R301R,ZNF567:NM_001322916:exon6:c.A903G:p.R301R,ZNF567:NM_001322917:exon6:c.A903G:p.R301R,ZNF567:NM_001322919:exon6:c.A903G:p.R301R,ZNF567:NM_001322915:exon7:c.A903G:p.R301R,ZNF567:NM_001322918:exon7:c.A903G:p.R301R,ZNF567:NM_001322920:exon7:c.A903G:p.R301R 0.27 0.37 0.2 0.21 0.29 0.22 0.2752 0.3443 0.1612 0.2489 0.3146 0.3031 0.2655 0.1975 0.31 0.34 0.3 0.3 0.3 rs3108200 COSM5654373;COSM5654374 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2686 0.3406 0.1626 0.2564 0.2522 0.3192 0.3047 0.2663 0.1948 0.3121 0.3270 0.1826 0.2848 0.2377 0.3281 0.3140 0.3364 het 1179.28 77 19 37210529 . A G 1179.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.054;DP=77;Dels=0.00;FS=4.689;HRun=1;HaplotypeScore=1.9648;MQ=59.21;MQ0=0;MQRankSum=0.098;QD=15.32;ReadPosRankSum=0.222;VQSLOD=5.7365;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,45:77:99:1209,0,839 19 37210805 37210805 C T exonic ZNF567 synonymous SNV ZNF567:NM_001322911:exon5:c.C1086T:p.Y362Y,ZNF567:NM_001322912:exon5:c.C1086T:p.Y362Y,ZNF567:NM_152603:exon5:c.C1086T:p.Y362Y,ZNF567:NM_001300979:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322913:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322914:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322916:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322917:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322919:exon6:c.C1179T:p.Y393Y,ZNF567:NM_001322915:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001322918:exon7:c.C1179T:p.Y393Y,ZNF567:NM_001322920:exon7:c.C1179T:p.Y393Y 0.7 0.78 0.68 0.82 0.6 0.58 0.6577 0.7570 0.7481 0.8275 0.6306 0.6270 0.6388 0.5788 0.66 0.74 0.62 0.72 0.5 rs3108201 COSM3756694;COSM3756695 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6572 0.7607 0.7282 0.6483 0.8268 0.6300 0.6223 0.6469 0.5839 0.6814 0.7601 0.7165 0.6788 0.8385 0.6301 0.6297 0.6643 het 1432.92 113 19 37210805 . C T 1432.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.216;DP=113;Dels=0.00;FS=2.600;HRun=0;HaplotypeScore=3.4928;MQ=59.34;MQ0=0;MQRankSum=-0.588;QD=12.68;ReadPosRankSum=0.081;VQSLOD=5.3994;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:113:99:1463,0,1471 19 37310344 37310344 T C exonic ZNF790 nonsynonymous SNV ZNF790:NM_001242800:exon5:c.A902G:p.Q301R,ZNF790:NM_001242801:exon5:c.A902G:p.Q301R,ZNF790:NM_001242802:exon5:c.A902G:p.Q301R,ZNF790:NM_206894:exon5:c.A902G:p.Q301R 0.29 0.3 0.22 0.22 0.29 0.4 0.2715 0.2868 0.1501 0.2276 0.2597 0.2725 0.3011 0.3703 0.28 0.29 0.27 0.33 0.3 rs3745775 COSM3756697 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.045 0.408 D 0.081 0.231 B 0.021 0.181 B . . . 1.000 0.090 P 0.395 0.123 N 2.26 0.176 T -2.92 0.611 D 0.086 0.094 -0.930 0.442 T 0.000 0.000 T . . . 4.071 0.547 23.7 0.995 0.656 0.008 0.033 N c -0.802 -0.777 0.012 0.123 0.776 0.995 0 2.11 0.262 -0.364 0.076 0.680 0.295 0.000 0.063 0.920 0.395 7.231 0.251 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000186020.8|ENSG00000226686.3|ENSG00000186020.8|ENSG00000226686.3|ENSG00000226686.3|ENSG00000189042.9|ENSG00000225975.2|ENSG00000226686.3 Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.2692 0.2791 0.1725 0.3318 0.2331 0.2674 0.2709 0.2648 0.3654 0.2614 0.2733 0.1902 0.3179 0.2135 0.2707 0.2616 0.2418 het 1462.56 148 19 37310344 . T C 1462.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.903;DP=148;Dels=0.00;FS=2.985;HRun=1;HaplotypeScore=1.6281;MQ=59.53;MQ0=0;MQRankSum=0.689;QD=9.88;ReadPosRankSum=-1.560;VQSLOD=5.3962;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,60:148:99:1493,0,2337 19 37441111 37441111 C T exonic ZNF568 synonymous SNV ZNF568:NM_001204837:exon5:c.C864T:p.H288H,ZNF568:NM_001204836:exon6:c.C864T:p.H288H,ZNF568:NM_001204835:exon7:c.C1053T:p.H351H,ZNF568:NM_198539:exon7:c.C1056T:p.H352H 0.59 0.76 0.62 0.36 0.57 0.58 0.5666 0.7438 0.5637 0.3732 0.5573 0.5551 0.5819 0.6126 0.63 0.74 0.57 0.64 0.49 rs571294 COSM4000694 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5667 0.7456 0.5636 0.5371 0.3738 0.5565 0.5626 0.5804 0.6184 0.6039 0.7515 0.5801 0.5166 0.3557 0.5585 0.5600 0.5787 het 1717.05 144 19 37441111 . C T 1717.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.359;DP=144;Dels=0.00;FS=7.532;HRun=0;HaplotypeScore=1.9574;MQ=59.68;MQ0=0;MQRankSum=-0.720;QD=11.92;ReadPosRankSum=1.832;VQSLOD=4.3217;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,69:144:99:1747,0,1860 19 37441462 37441462 T C exonic ZNF568 synonymous SNV ZNF568:NM_001204837:exon5:c.T1215C:p.T405T,ZNF568:NM_001204836:exon6:c.T1215C:p.T405T,ZNF568:NM_001204835:exon7:c.T1404C:p.T468T,ZNF568:NM_198539:exon7:c.T1407C:p.T469T 0.57 0.76 0.57 0.31 0.56 0.57 0.5531 0.7444 0.4818 0.3177 0.5537 0.5545 0.5683 0.6026 0.63 0.74 0.57 0.63 0.4 rs546589 COSM5427212 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5501 0.7482 0.4874 0.5354 0.3161 0.5524 0.5620 0.5683 0.6082 0.5979 0.7524 0.5227 0.52 0.2942 0.5544 0.5585 0.5726 het 1203.61 86 19 37441462 . T C 1203.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.170;DP=86;Dels=0.00;FS=1.793;HRun=1;HaplotypeScore=8.2601;MQ=57.65;MQ0=0;MQRankSum=0.550;QD=14.00;ReadPosRankSum=-0.031;VQSLOD=3.4908;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,45:86:99:1234,0,1070 19 37441980 37441980 A G exonic ZNF568 nonsynonymous SNV ZNF568:NM_001204837:exon5:c.A1733G:p.Q578R,ZNF568:NM_001204836:exon6:c.A1733G:p.Q578R,ZNF568:NM_001204835:exon7:c.A1922G:p.Q641R,ZNF568:NM_198539:exon7:c.A1925G:p.Q642R 0.55 0.7 0.56 0.31 0.56 0.56 0.5486 0.6930 0.4791 0.3174 0.5550 0.5571 0.5813 0.6167 0.62 0.71 0.57 0.59 0.5 rs1644634 COSM5427179 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.345 0.112 N 3.57 0.052 T 0.11 0.060 N 0.013 0.008 -0.995 0.314 T 0.000 0.000 T . . . -2.607 0.003 0.001 0.114 0.002 0.010 0.036 N c -1.830 -1.902 0.244 0.186 0.554 0.246 0 -6.21 0.019 -4.441 0.003 -1.160 0.017 0.000 0.063 0.000 0.016 5.980 0.185 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000245680.5|ENSG00000188227.8|ENSG00000245680.5|ENSG00000245680.5|ENSG00000245680.5|ENSG00000196381.6|ENSG00000226686.3|ENSG00000245680.5|ENSG00000254004.2|ENSG00000245680.5|ENSG00000226686.3|ENSG00000245680.5|ENSG00000245680.5|ENSG00000196381.6|ENSG00000245680.5|ENSG00000245680.5|ENSG00000245680.5|ENSG00000254004.2|ENSG00000196381.6|ENSG00000226686.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Thyroid|Thyroid 0.5514 0.6963 0.4961 0.5508 0.3163 0.5565 0.5640 0.5767 0.6138 0.5831 0.7002 0.5191 0.5166 0.2938 0.5548 0.5585 0.5678 het 760.45 77 19 37441980 . A G 760.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DP=77;Dels=0.00;FS=3.414;HRun=0;HaplotypeScore=1.7465;MQ=59.10;MQ0=0;MQRankSum=0.639;QD=9.88;ReadPosRankSum=0.161;VQSLOD=6.4568;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,31:77:99:790,0,1136 19 37854235 37854235 G T exonic HKR1 nonsynonymous SNV HKR1:NM_001329773:exon4:c.G1358T:p.S453I,HKR1:NM_001329776:exon4:c.G1355T:p.S452I,HKR1:NM_001329761:exon5:c.G1484T:p.S495I,HKR1:NM_001329762:exon5:c.G1484T:p.S495I,HKR1:NM_001329764:exon5:c.G1481T:p.S494I,HKR1:NM_001329768:exon5:c.G1442T:p.S481I,HKR1:NM_001329769:exon5:c.G1439T:p.S480I,HKR1:NM_001329779:exon5:c.G1196T:p.S399I,HKR1:NM_001329772:exon6:c.G1358T:p.S453I,HKR1:NM_001329775:exon6:c.G1355T:p.S452I,HKR1:NM_001329777:exon6:c.G1355T:p.S452I,HKR1:NM_001329778:exon6:c.G1355T:p.S452I,HKR1:NM_181786:exon6:c.G1538T:p.S513I,HKR1:NM_001329766:exon7:c.G1466T:p.S489I,HKR1:NM_001329771:exon7:c.G1358T:p.S453I,HKR1:NM_001329774:exon7:c.G1355T:p.S452I,HKR1:NM_001329763:exon8:c.G1481T:p.S494I,HKR1:NM_001329765:exon8:c.G1466T:p.S489I,HKR1:NM_001329767:exon8:c.G1463T:p.S488I,HKR1:NM_001329770:exon8:c.G1424T:p.S475I 0.35 0.53 0.27 0.3 0.16 0.39 0.2358 0.4933 0.2595 0.3130 0.1633 0.1648 0.2181 0.3333 0.28 0.48 0.17 0.38 0.19 rs3745765 COSM3756712;COSM3756713 3(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.002 0.093 B . . . 1 0.090 P 0.375 0.121 N 2.38 0.200 T 4.12 0.001 N 0.016 0.029 -0.920 0.455 T 0.000 0.000 T . . . 0.052 0.099 3.106 0.158 0.004 0.006 0.026 N c -1.500 -1.396 0.997 0.348 0.707 0.730 0 1.52 0.221 -1.665 0.021 -0.560 0.047 0.000 0.063 0.966 0.452 4.178 0.098 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2;Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000181666.13|ENSG00000120784.11|ENSG00000188227.8|ENSG00000267470.1|ENSG00000180458.2|ENSG00000226686.3|ENSG00000198453.8|ENSG00000198453.8|ENSG00000245680.5|ENSG00000120784.11|ENSG00000198453.8|ENSG00000188227.8|ENSG00000226686.3|ENSG00000188227.8|ENSG00000226686.3|ENSG00000266916.1|ENSG00000226686.3|ENSG00000267470.1|ENSG00000188227.8|ENSG00000267470.1|ENSG00000120784.11|ENSG00000188227.8|ENSG00000226686.3|ENSG00000120784.11|ENSG00000188227.8|ENSG00000188227.8|ENSG00000226686.3|ENSG00000198182.8|ENSG00000266916.1|ENSG00000171804.5|ENSG00000267470.1|ENSG00000226686.3|ENSG00000188227.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Hypothalamus|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.2311 0.4913 0.2545 0.2150 0.3129 0.1610 0.1646 0.2128 0.3301 0.2617 0.4808 0.2458 0.2315 0.2888 0.1648 0.1582 0.2175 hom 4527.64 150 19 37854235 . G T 4527.64 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.36;MQ0=0;QD=30.18;VQSLOD=9.1574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4527,373,0 19 37879589 37879589 A G exonic ZNF527 nonsynonymous SNV ZNF527:NM_032453:exon5:c.A638G:p.H213R 0.35 0.53 0.27 0.3 0.16 0.39 0.2338 0.4930 0.2564 0.3015 0.1636 0.1657 0.2178 0.3339 0.26 0.47 0.17 0.36 0.2 rs4452075 COSM3756714 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . 0.005 0.139 B 0.007 0.166 B 0.678 0.103 N 1 0.207 P 2.115 0.589 M 3.61 0.045 T . . . 0.103 0.107 -0.941 0.425 T 0.000 0.000 T . . . -0.827 0.039 0.037 0.479 0.039 0.111 0.163 N c -1.197 -1.263 0.011 0.121 0.476 0.093 0 -0.451 0.116 0.638 0.242 -1.107 0.018 0.000 0.063 0.017 0.128 6.376 0.206 . ENSG00000181666.13|ENSG00000120784.11|ENSG00000188227.8|ENSG00000267470.1|ENSG00000180458.2|ENSG00000226686.3|ENSG00000198453.8|ENSG00000198453.8|ENSG00000245680.5|ENSG00000120784.11|ENSG00000198453.8|ENSG00000188227.8|ENSG00000226686.3|ENSG00000188227.8|ENSG00000226686.3|ENSG00000266916.1|ENSG00000226686.3|ENSG00000267470.1|ENSG00000188227.8|ENSG00000267470.1|ENSG00000120784.11|ENSG00000188227.8|ENSG00000226686.3|ENSG00000120784.11|ENSG00000188227.8|ENSG00000188227.8|ENSG00000198182.8|ENSG00000266916.1|ENSG00000171804.5|ENSG00000267470.1|ENSG00000226686.3|ENSG00000188227.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Hypothalamus|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.2297 0.4869 0.2525 0.2162 0.3036 0.1615 0.1642 0.2093 0.3323 0.2578 0.4727 0.2434 0.2285 0.2853 0.1641 0.1564 0.2118 hom 1734.33 60 19 37879589 . A G 1734.33 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=60.00;MQ0=0;QD=28.91;VQSLOD=7.6275;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1767,144,0 19 38055612 38055612 A T exonic ZNF571 nonsynonymous SNV ZNF571:NM_001321272:exon4:c.T1718A:p.L573H,ZNF571:NM_016536:exon4:c.T1718A:p.L573H,ZNF571:NM_001290314:exon5:c.T1718A:p.L573H 0.37 0.36 0.26 0.65 0.17 0.37 0.2613 0.3291 0.3091 0.6253 0.2187 0.1881 0.2042 0.3109 0.23 0.32 0.19 0.38 0.19 rs4802029 COSM3756715 1(large_intestine) . . . . . . . . . . . 0.009 0.574 D 1.0 0.899 D 1.0 0.971 D . . . 0.000 0.810 P 3.385 0.917 M 0.59 0.540 T -5.41 0.851 D 0.468 0.519 -0.888 0.491 T 0.000 0.000 T . . . 5.387 0.730 26.0 0.982 0.385 0.003 0.017 N c 0.519 0.295 0.999 0.371 0.615 0.372 0 3.78 0.425 2.367 0.436 0.922 0.432 0.006 0.172 0.002 0.062 11.596 0.500 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000181666.13|ENSG00000120784.11|ENSG00000188227.8|ENSG00000267470.1|ENSG00000180458.2|ENSG00000267470.1|ENSG00000180458.2|ENSG00000120784.11|ENSG00000198453.8|ENSG00000188227.8|ENSG00000120784.11|ENSG00000226686.3|ENSG00000188227.8|ENSG00000226686.3|ENSG00000120784.11|ENSG00000188227.8|ENSG00000267470.1|ENSG00000120784.11|ENSG00000188227.8|ENSG00000105738.6|ENSG00000120784.11|ENSG00000188227.8|ENSG00000225868.2|ENSG00000198182.8|ENSG00000266916.1|ENSG00000171804.5|ENSG00000229481.1|ENSG00000120784.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.2597 0.3288 0.298 0.2183 0.6297 0.2174 0.1828 0.2211 0.3057 0.2495 0.3229 0.2764 0.2616 0.6064 0.2204 0.1746 0.2301 hom 2606.86 84 19 38055612 . A T 2606.86 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.526;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9832;MQ=58.31;MQ0=0;MQRankSum=1.608;QD=31.03;ReadPosRankSum=1.155;VQSLOD=6.7354;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,83:84:99:2640,185,0 19 38056574 38056574 T A exonic ZNF571 nonsynonymous SNV ZNF571:NM_001321272:exon4:c.A756T:p.E252D,ZNF571:NM_016536:exon4:c.A756T:p.E252D,ZNF571:NM_001290314:exon5:c.A756T:p.E252D 0.37 0.36 0.26 0.65 0.17 0.37 0.2613 0.3300 0.3097 0.6236 0.2185 0.1879 0.2040 0.3109 0.23 0.32 0.19 0.38 0.19 rs28512414 COSM3756716 1(large_intestine) . . . . . . . . . . . 0.021 0.491 D 0.003 0.102 B 0.031 0.206 B . . . 0.000 0.588 P 1.46 0.370 L 1.97 0.221 T -2.11 0.480 N 0.043 0.034 -0.977 0.357 T 0.000 0.000 T . . . 2.681 0.383 20.7 0.995 0.695 0.000 0.002 N c -0.481 -0.421 0.006 0.110 0.554 0.246 0 3.87 0.437 -1.595 0.022 0.818 0.335 0.000 0.063 0.069 0.175 7.564 0.269 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000181666.13|ENSG00000120784.11|ENSG00000188227.8|ENSG00000267470.1|ENSG00000180458.2|ENSG00000267470.1|ENSG00000180458.2|ENSG00000120784.11|ENSG00000198453.8|ENSG00000188227.8|ENSG00000120784.11|ENSG00000226686.3|ENSG00000188227.8|ENSG00000226686.3|ENSG00000120784.11|ENSG00000188227.8|ENSG00000196381.6|ENSG00000267470.1|ENSG00000120784.11|ENSG00000188227.8|ENSG00000105738.6|ENSG00000120784.11|ENSG00000188227.8|ENSG00000188227.8|ENSG00000225868.2|ENSG00000198182.8|ENSG00000266916.1|ENSG00000171804.5|ENSG00000229481.1|ENSG00000226686.3|ENSG00000120784.11|ENSG00000188227.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2598 0.3290 0.2982 0.2185 0.6291 0.2177 0.1827 0.2204 0.3058 0.2494 0.3224 0.2770 0.2567 0.6072 0.2202 0.1747 0.2301 hom 1754.68 58 19 38056574 . T A 1754.68 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.14;MQ0=0;QD=30.25;VQSLOD=8.0353;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1788,141,0 19 38056831 38056831 A - exonic ZNF571 frameshift deletion ZNF571:NM_001321272:exon4:c.499delT:p.S167Lfs*182,ZNF571:NM_016536:exon4:c.499delT:p.S167Lfs*182,ZNF571:NM_001290314:exon5:c.499delT:p.S167Lfs*182 . . . . . . 2.478e-05 0 0 0 0 4.506e-05 0 0 . . . . . rs373863891 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.629e-05 0 0 0 0 0 3.595e-05 0 0 . . . . . . . . het 1237.23 63 19 38056830 . GA G 1237.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.318;DP=63;FS=2.122;HRun=1;HaplotypeScore=155.1217;MQ=60.68;MQ0=0;MQRankSum=-0.131;QD=19.64;ReadPosRankSum=-0.685;set=variant2 GT:AD:DP:GQ:PL 0/1:28,35:63:99:1276,0,1153 19 38202516 38202516 A C exonic ZNF607 nonsynonymous SNV ZNF607:NM_001172677:exon2:c.T4G:p.S2A,ZNF607:NM_032689:exon2:c.T4G:p.S2A 0.99 1. 1. 0.97 1. 0.99 0.9973 0.9997 1 0.9685 1 1.0000 0.9978 0.9973 1. 1. 1. 0.9 1. rs2909097 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P 0.685 0.165 N 3.48 0.053 T 0.12 0.056 N 0.009 0.014 -0.958 0.396 T 0.000 0.000 T . . . -0.868 0.037 0.030 0.218 0.008 0.001 0.008 N c -1.203 -1.158 0.000 0.042 0.707 0.730 0 1.88 0.245 -0.033 0.121 0.014 0.141 0.887 0.309 0.134 0.200 5.646 0.168 . . . 0.9973 0.9995 1.0000 1 0.9668 1 1.0000 0.9985 0.9975 0.9978 0.9998 1 1 0.9599 1 1 0.9990 hom 4349.37 149 19 38202516 . A C 4349.37 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.662;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9734;MQ=59.25;MQ0=1;MQRankSum=-0.609;QD=29.19;ReadPosRankSum=1.451;VQSLOD=7.2830;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,148:149:99:4326,302,0 19 38230581 38230581 G A exonic ZNF573 synonymous SNV ZNF573:NM_001172692:exon4:c.C546T:p.G182G,ZNF573:NM_001172690:exon5:c.C810T:p.G270G,ZNF573:NM_001172691:exon5:c.C804T:p.G268G,ZNF573:NM_001172689:exon6:c.C546T:p.G182G,ZNF573:NM_152360:exon8:c.C636T:p.G212G 0.0056 . 0.0072 . 0.013 0.01 0.0103 0.0012 0.0051 0 0.0121 0.0127 0.0077 0.0150 0.0078 0.0016 0.011 . . rs80333275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0097 0.0010 0.0056 0.0018 0.0001 0.0117 0.0125 0.0086 0.0146 0.0076 0.0022 0.0072 0.0033 0.0012 0.0149 0.0099 0.0071 het 1332.28 103 19 38230581 . G A 1332.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.716;DP=103;Dels=0.00;FS=0.733;HRun=0;HaplotypeScore=4.4700;MQ=58.96;MQ0=0;MQRankSum=-0.987;QD=12.93;ReadPosRankSum=-1.456;VQSLOD=4.8679;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,49:103:99:1362,0,1428 19 38572894 38572894 C T exonic SIPA1L3 nonsynonymous SNV SIPA1L3:NM_015073:exon3:c.C689T:p.P230L 0.0072 0.0008 0.011 . 0.024 0.0031 0.0239 0.0062 0.0116 0.0001 0.0157 0.0383 0.0120 0.0034 0.022 0.0056 0.03 0.043 0.016 rs45572940 COSM3756735 2(large_intestine) . . . . . . . . . . . 0.46 0.087 T 0.27 0.300 B 0.23 0.365 B 0.005 0.332 N 1 0.810 D 1.97 0.535 M -1.01 0.762 T -4.54 0.784 D 0.138 0.160 -0.705 0.603 T 0.163 0.500 T . . . 2.043 0.306 16.49 0.996 0.733 0.983 0.810 D c 0.036 0.191 1.000 0.747 0.672 0.522 0 5.48 0.806 3.308 0.514 0.935 0.490 0.962 0.335 0.797 0.335 18.127 0.895 . . . 0.0219 0.0059 0.0117 0.0301 0.0001 0.0161 0.0367 0.0224 0.0029 0.0222 0.0073 0.0203 0.0265 0 0.0166 0.0335 0.0367 het 1426.27 112 19 38572894 . C T 1426.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.803;DP=112;Dels=0.00;FS=2.502;HRun=0;HaplotypeScore=1.7753;MQ=59.29;MQ0=0;MQRankSum=1.324;QD=12.73;ReadPosRankSum=-1.888;VQSLOD=5.7093;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1456,0,1326 19 38590700 38590700 T C exonic SIPA1L3 synonymous SNV SIPA1L3:NM_015073:exon5:c.T1764C:p.Y588Y 0.0066 0.0008 0.01 . 0.022 0.0031 0.0214 0.0056 0.0094 0 0.0144 0.0341 0.0122 0.0030 0.023 0.0061 0.031 0.043 0.016 rs56110924 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0192 0.0052 0.0093 0.0109 5.892e-05 0.0137 0.0333 0.0192 0.0026 0.0203 0.0070 0.0167 0.0066 0 0.0152 0.0312 0.0318 het 1453.38 121 19 38590700 . T C 1453.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.458;DP=121;Dels=0.00;FS=4.496;HRun=0;HaplotypeScore=3.0735;MQ=58.80;MQ0=0;MQRankSum=-0.589;QD=12.01;ReadPosRankSum=-0.423;VQSLOD=5.1666;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,57:121:99:1483,0,1693 19 38861333 38861333 G A exonic CATSPERG synonymous SNV CATSPERG:NM_001330496:exon28:c.G3261A:p.P1087P,CATSPERG:NM_021185:exon29:c.G3381A:p.P1127P 0.27 0.036 0.32 0.23 0.52 0.33 0.4188 0.1036 0.2518 0.2383 0.4130 0.5302 0.4405 0.3797 0.39 0.12 0.53 0.25 0.5 rs1052375 COSM3756747;COSM3756746 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4156 0.0987 0.2659 0.5141 0.2327 0.4039 0.5334 0.4745 0.3782 0.3728 0.1155 0.3065 0.5364 0.2447 0.4032 0.5268 0.4172 het 2272.97 190 19 38861333 . G A 2272.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.415;DP=190;Dels=0.00;FS=4.302;HRun=0;HaplotypeScore=5.8496;MQ=59.29;MQ0=0;MQRankSum=1.599;QD=11.96;ReadPosRankSum=-0.631;VQSLOD=4.7361;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,87:190:99:2303,0,2634 19 38896204 38896204 T G exonic FAM98C nonsynonymous SNV FAM98C:NM_001351675:exon5:c.T601G:p.C201G,FAM98C:NM_174905:exon6:c.T679G:p.C227G 0.0048 0.0008 0.0058 . 0.017 0.002 0.0095 0.0029 0.0045 0 0.0068 0.0145 0.0089 0.0028 0.011 0.0027 0.015 0.022 0.0082 rs117354953 . . . . . . . . . . . . . 0.013 0.632 D 0.902 0.478 P 0.268 0.381 B 0.267 0.152 N 0.997 0.810 D 3.03 0.867 M 0.89 0.456 T -5.34 0.846 D 0.115 0.127 -1.050 0.143 T 0.062 0.258 T . . . 4.925 0.662 25.0 0.956 0.268 0.902 0.510 D c 0.010 0.050 0.761 0.235 0.732 0.924 0 3.99 0.454 1.698 0.372 1.060 0.767 0.992 0.373 0.935 0.408 8.856 0.342 . . . 0.0090 0.0028 0.0049 0.0056 0 0.0064 0.0148 0.0119 0.0027 0.0096 0.0024 0.0095 0.0099 0.0006 0.0089 0.0151 0.0071 het 1243.05 127 19 38896204 . T G 1243.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.342;DP=127;Dels=0.00;FS=3.560;HRun=1;HaplotypeScore=5.5898;MQ=59.71;MQ0=0;MQRankSum=-0.008;QD=9.79;ReadPosRankSum=-0.003;VQSLOD=3.9207;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,52:127:99:1273,0,1890 19 38912764 38912764 A G exonic RASGRP4 nonsynonymous SNV RASGRP4:NM_001146202:exon2:c.T53C:p.I18T,RASGRP4:NM_001146203:exon2:c.T53C:p.I18T,RASGRP4:NM_001146204:exon2:c.T53C:p.I18T,RASGRP4:NM_001146205:exon2:c.T53C:p.I18T,RASGRP4:NM_001146206:exon2:c.T53C:p.I18T,RASGRP4:NM_001146207:exon2:c.T53C:p.I18T,RASGRP4:NM_170604:exon2:c.T53C:p.I18T 0.54 0.66 0.45 0.55 0.35 0.61 0.4307 0.5982 0.4761 0.5459 0.4125 0.3467 0.4396 0.5861 0.42 0.58 0.35 0.54 . rs892055 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.167 B 0.0 0.145 B 0.832 0.091 N 1 0.090 P -1.61 0.004 N 1.7 0.269 T 0.63 0.031 N 0.003 0.003 -0.935 0.434 T 0.000 0.000 T . . . -0.200 0.076 1.098 0.149 0.003 0.001 0.006 N c -1.253 -1.103 0.941 0.274 0.615 0.372 0 4.07 0.466 2.840 0.477 0.076 0.183 0.606 0.276 0.008 0.104 10.023 0.410 . ENSG00000171777.11 Esophagus_Muscularis 0.4287 0.5989 0.4724 0.3844 0.5519 0.4042 0.3429 0.3910 0.5735 0.4411 0.5956 0.4785 0.3841 0.5457 0.3956 0.3521 0.3988 het 334.41 28 19 38912764 . A G 334.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.401;DP=28;Dels=0.00;FS=1.906;HRun=0;HaplotypeScore=1.5592;MQ=58.33;MQ0=0;MQRankSum=0.345;QD=11.94;ReadPosRankSum=-0.482;VQSLOD=5.9860;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,14:28:99:364,0,367 19 38935280 38935280 A G exonic RYR1 synonymous SNV RYR1:NM_000540:exon7:c.A594G:p.L198L,RYR1:NM_001042723:exon7:c.A594G:p.L198L 0.54 0.47 0.66 0.61 0.65 0.38 0.6074 0.5229 0.6782 0.6365 0.6447 0.6491 0.6107 0.4098 0.6 0.52 0.64 0.54 0.59 rs2229139 COSM5009700 1(breast);1(large_intestine) other|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber|Multiminicore_Disease|Malignant_hyperthermia_susceptibility|Central_core_disease RCV000079154.9|RCV000119644.1|RCV000259980.1|RCV000277554.1|RCV000313910.1|RCV000354818.1 MedGen|MedGen|MedGen|MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN221809|C2674259|C2673970|C0024591:ORPHA423|C0751951:117000:ORPHA597:43152001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6091 0.5150 0.6791 0.6177 0.6291 0.6462 0.6448 0.6389 0.4044 0.6056 0.5109 0.6882 0.6192 0.6322 0.6549 0.6400 0.6296 het 416.17 34 19 38935280 . A G 416.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.720;DP=34;Dels=0.00;FS=1.304;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;MQRankSum=-0.999;QD=12.24;ReadPosRankSum=0.344;VQSLOD=6.3271;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,17:34:99:446,0,396 19 38939408 38939408 T C exonic RYR1 synonymous SNV RYR1:NM_000540:exon11:c.T1077C:p.A359A,RYR1:NM_001042723:exon11:c.T1077C:p.A359A 0.9 0.94 0.93 0.99 0.88 0.77 0.8844 0.9302 0.9142 0.9924 0.9312 0.8851 0.8783 0.7568 0.9 0.93 0.88 0.9 0.8 rs10406027 COSM4131781 1(thyroid) Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Malignant_hyperthermia_susceptibility|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber|Multiminicore_Disease|Central_core_disease RCV000079119.9|RCV000119418.1|RCV000293044.1|RCV000349685.1|RCV000384950.1|RCV000387851.1 MedGen|MedGen|MedGen:Orphanet|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN221809|C0024591:ORPHA423|C2674259|C2673970|C0751951:117000:ORPHA597:43152001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8864 0.9304 0.9168 0.9126 0.9925 0.9325 0.8791 0.8959 0.7549 0.9058 0.9348 0.9165 0.9272 0.9938 0.9272 0.8741 0.8937 hom 2359.79 76 19 38939408 . T C 2359.79 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=31.05;VQSLOD=8.3873;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2393,208,0 19 38946182 38946182 G A exonic RYR1 synonymous SNV RYR1:NM_000540:exon15:c.G1668A:p.S556S,RYR1:NM_001042723:exon15:c.G1668A:p.S556S 0.57 0.51 0.68 0.61 0.69 0.42 0.6366 0.5481 0.6923 0.6292 0.7035 0.6811 0.6468 0.4501 0.63 0.55 0.67 0.59 0.65 rs2288888 . . Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Multiminicore_Disease|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber|Malignant_hyperthermia_susceptibility|Central_core_disease RCV000079135.8|RCV000119582.1|RCV000283069.1|RCV000286535.1|RCV000340367.1|RCV000390356.1 MedGen|MedGen|MedGen|MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN221809|C2673970|C2674259|C0024591:ORPHA423|C0751951:117000:ORPHA597:43152001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6422 0.5471 0.6953 0.7028 0.6198 0.7042 0.6754 0.6729 0.4540 0.6389 0.5420 0.7100 0.6954 0.6088 0.7077 0.6745 0.6838 het 887.26 73 19 38946182 . G A 887.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.485;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.14;MQ0=0;MQRankSum=-0.078;QD=12.15;ReadPosRankSum=0.560;VQSLOD=6.2612;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,32:73:99:917,0,1150 19 38949904 38949904 C T exonic RYR1 synonymous SNV RYR1:NM_000540:exon19:c.C2286T:p.P762P,RYR1:NM_001042723:exon19:c.C2286T:p.P762P 0.55 0.5 0.67 0.59 0.68 0.38 0.6211 0.5304 0.6836 0.6159 0.6958 0.6679 0.6291 0.4181 0.62 0.54 0.66 0.56 0.61 rs3745847 COSM4131782 1(thyroid) Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber|Malignant_hyperthermia_susceptibility|Multiminicore_Disease|Central_core_disease RCV000079136.8|RCV000119595.1|RCV000267870.1|RCV000302784.1|RCV000325270.1|RCV000359922.1 MedGen|MedGen|MedGen|MedGen:Orphanet|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN221809|C2674259|C0024591:ORPHA423|C2673970|C0751951:117000:ORPHA597:43152001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6268 0.5305 0.6883 0.6762 0.6042 0.6975 0.6617 0.6582 0.4214 0.6271 0.5264 0.7005 0.6623 0.5893 0.6999 0.6645 0.6797 het 1512.19 101 19 38949904 . C T 1512.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.180;DP=101;Dels=0.00;FS=2.672;HRun=0;HaplotypeScore=8.2585;MQ=58.80;MQ0=0;MQRankSum=-0.003;QD=14.97;ReadPosRankSum=1.767;VQSLOD=4.2235;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:41,60:101:99:1542,0,1048 19 38956803 38956803 G A exonic RYR1 synonymous SNV RYR1:NM_000540:exon24:c.G2943A:p.T981T,RYR1:NM_001042723:exon24:c.G2943A:p.T981T 0.55 0.52 0.66 0.53 0.64 0.42 0.5962 0.5703 0.6928 0.5650 0.5906 0.6247 0.6075 0.4473 0.6 0.56 0.62 0.51 0.55 rs2228069 COSM3756752 1(liver);1(large_intestine) Benign|not provided|Benign|Benign|Benign|Benign\x2cnot provided not_specified|not_provided|Central_core_disease|Multiminicore_Disease|Malignant_hyperthermia_susceptibility|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber\x2cnot_provided RCV000079138.8|RCV000119602.1|RCV000264161.1|RCV000267837.1|RCV000322762.1|RCV000377343.1\x2cRCV000119603.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet|MedGen\x2cMedGen CN169374|CN221809|C0751951:117000:ORPHA597:43152001|C2673970|C0024591:ORPHA423|C2674259\x2cCN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5931 0.5599 0.6845 0.6548 0.5444 0.5794 0.6166 0.6219 0.4381 0.5968 0.5620 0.6993 0.6556 0.5235 0.5798 0.6207 0.6153 het 644.57 42 19 38956803 . G A 644.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.306;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.128;QD=15.35;ReadPosRankSum=-0.410;VQSLOD=11.7048;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,25:42:99:675,0,422 19 38956839 38956839 C T exonic RYR1 synonymous SNV RYR1:NM_000540:exon24:c.C2979T:p.N993N,RYR1:NM_001042723:exon24:c.C2979T:p.N993N 0.24 0.084 0.22 0.43 0.22 0.31 0.2410 0.0956 0.1920 0.4055 0.3490 0.2309 0.2334 0.2789 0.18 0.1 0.23 0.2 0.19 rs2228070 COSM3756753 1(large_intestine) Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Multiminicore_Disease|Malignant_hyperthermia_susceptibility|Central_core_disease|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber RCV000079139.8|RCV000119604.1|RCV000279466.1|RCV000319352.1|RCV000334468.1|RCV000373768.1 MedGen|MedGen|MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|CN221809|C2673970|C0024591:ORPHA423|C0751951:117000:ORPHA597:43152001|C2674259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2428 0.0938 0.1964 0.2034 0.4167 0.3374 0.2270 0.2292 0.2753 0.2092 0.0972 0.1826 0.2020 0.4325 0.3300 0.2221 0.2352 het 497.34 43 19 38956839 . C T 497.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.498;DP=43;Dels=0.00;FS=4.506;HRun=0;HaplotypeScore=2.6274;MQ=60.00;MQ0=0;MQRankSum=0.863;QD=11.57;ReadPosRankSum=-1.081;VQSLOD=5.5088;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,21:43:99:527,0,545 19 38959680 38959680 C T exonic RYR1 synonymous SNV RYR1:NM_000540:exon26:c.C3456T:p.I1152I,RYR1:NM_001042723:exon26:c.C3456T:p.I1152I 0.45 0.48 0.34 0.47 0.34 0.58 0.3956 0.4376 0.3229 0.4425 0.4107 0.3582 0.3877 0.5409 0.38 0.44 0.35 0.46 0.39 rs11083462 COSM148605 1(stomach);1(kidney);1(oesophagus);2(large_intestine) Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Central_core_disease|Multiminicore_Disease|Malignant_hyperthermia_susceptibility|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber RCV000079140.8|RCV000119611.1|RCV000268115.1|RCV000269655.1|RCV000327094.1|RCV000360884.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet|MedGen CN169374|CN221809|C0751951:117000:ORPHA597:43152001|C2673970|C0024591:ORPHA423|C2674259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3911 0.4387 0.3216 0.3340 0.4549 0.4079 0.3578 0.3675 0.5383 0.3870 0.4362 0.2947 0.3212 0.4776 0.4037 0.3525 0.3666 het 1339.59 99 19 38959680 . C T 1339.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.284;DP=99;Dels=0.00;FS=5.156;HRun=1;HaplotypeScore=3.6799;MQ=59.81;MQ0=0;MQRankSum=0.785;QD=13.53;ReadPosRankSum=0.814;VQSLOD=5.2099;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,50:99:99:1370,0,1168 19 38990593 38990593 C T exonic RYR1 synonymous SNV RYR1:NM_000540:exon45:c.C7260T:p.H2420H,RYR1:NM_001042723:exon45:c.C7260T:p.H2420H 0.023 0.023 0.037 0.001 0.039 0.02 0.0327 0.0192 0.0976 0.0003 0.0185 0.0322 0.0243 0.0208 0.029 0.021 0.033 0.033 0.025 rs12973632 . . not provided|Benign|Benign|Benign|Benign|Benign not_provided|not_specified|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber|Central_core_disease|Malignant_hyperthermia_susceptibility|Multiminicore_Disease RCV000119692.1|RCV000147438.7|RCV000287054.1|RCV000290153.1|RCV000339275.1|RCV000403377.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:Orphanet|MedGen CN221809|CN169374|C2674259|C0751951:117000:ORPHA597:43152001|C0024591:ORPHA423|C2673970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0352 0.0206 0.0910 0.0272 0.0002 0.0197 0.0333 0.0372 0.0211 0.0268 0.0215 0.0692 0.0397 0.0012 0.0189 0.0315 0.0327 het 745.74 83 19 38990593 . C T 745.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.647;DP=83;Dels=0.00;FS=1.851;HRun=0;HaplotypeScore=2.9645;MQ=59.72;MQ0=0;MQRankSum=-0.572;QD=8.98;ReadPosRankSum=-0.516;VQSLOD=5.6262;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,33:83:99:776,0,1238 19 38993556 38993556 C T exonic RYR1 synonymous SNV RYR1:NM_000540:exon49:c.C7872T:p.R2624R,RYR1:NM_001042723:exon49:c.C7872T:p.R2624R 0.18 0.31 0.18 0.044 0.15 0.17 0.1478 0.2879 0.2720 0.0510 0.1434 0.1147 0.1489 0.1585 0.17 0.28 0.11 0.087 0.12 rs1469698 . . Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber|Multiminicore_Disease|Central_core_disease|Malignant_hyperthermia_susceptibility RCV000079173.8|RCV000119733.1|RCV000297506.1|RCV000357110.1|RCV000397230.1|RCV000404853.1 MedGen|MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:Orphanet CN169374|CN221809|C2674259|C2673970|C0751951:117000:ORPHA597:43152001|C0024591:ORPHA423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1495 0.2878 0.2613 0.0896 0.0461 0.1442 0.1162 0.1368 0.1625 0.1663 0.2893 0.2225 0.0867 0.0538 0.1498 0.1109 0.1439 het 1671.60 148 19 38993556 . C T 1671.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.313;DP=148;Dels=0.00;FS=4.119;HRun=0;HaplotypeScore=4.2791;MQ=58.33;MQ0=0;MQRankSum=0.069;QD=11.29;ReadPosRankSum=-0.430;VQSLOD=4.4151;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,75:148:99:1702,0,1775 19 38994910 38994910 G A exonic RYR1 synonymous SNV RYR1:NM_000540:exon50:c.G7977A:p.T2659T,RYR1:NM_001042723:exon50:c.G7977A:p.T2659T 0.41 0.52 0.37 0.35 0.3 0.48 0.3261 0.4705 0.4071 0.3435 0.3001 0.2600 0.3185 0.4468 0.32 0.46 0.25 0.35 0.25 rs2229144 COSM148610 1(stomach) Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Malignant_hyperthermia_susceptibility|Central_core_disease|Multiminicore_Disease|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber RCV000079174.9|RCV000119736.1|RCV000271603.1|RCV000307899.1|RCV000312792.1|RCV000366261.1 MedGen|MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen CN169374|CN221809|C0024591:ORPHA423|C0751951:117000:ORPHA597:43152001|C2673970|C2674259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3232 0.4704 0.3962 0.2531 0.3405 0.2969 0.2562 0.3090 0.4479 0.3252 0.4657 0.3493 0.2550 0.3786 0.2901 0.2477 0.3023 het 755.96 61 19 38994910 . G A 755.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.127;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7056;MQ=59.24;MQ0=0;MQRankSum=-0.310;QD=12.39;ReadPosRankSum=-0.599;VQSLOD=6.2537;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,29:61:99:786,0,861 19 38995438 38995438 T C exonic RYR1 synonymous SNV RYR1:NM_000540:exon51:c.T8118C:p.I2706I,RYR1:NM_001042723:exon51:c.T8118C:p.I2706I 0.42 0.52 0.37 0.35 0.3 0.49 0.3264 0.4696 0.4068 0.3426 0.2974 0.2592 0.3168 0.4552 0.32 0.46 0.25 0.35 0.25 rs2960340 COSM148611 1(stomach);1(oesophagus);1(large_intestine) Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber|Central_core_disease|Malignant_hyperthermia_susceptibility|Multiminicore_Disease RCV000079175.8|RCV000119738.1|RCV000310752.1|RCV000346944.1|RCV000405618.1|RCV000406007.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:Orphanet|MedGen CN169374|CN221809|C2674259|C0751951:117000:ORPHA597:43152001|C0024591:ORPHA423|C2673970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3249 0.4702 0.3971 0.2531 0.3407 0.2969 0.2567 0.3102 0.4583 0.3253 0.4660 0.3505 0.2533 0.3778 0.2904 0.2475 0.3027 het 856.46 82 19 38995438 . T C 856.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.163;DP=82;Dels=0.00;FS=1.859;HRun=0;HaplotypeScore=1.6643;MQ=58.18;MQ0=0;MQRankSum=-0.223;QD=10.44;ReadPosRankSum=1.426;VQSLOD=5.3179;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,36:82:99:886,0,1193 19 38995510 38995510 T C exonic RYR1 synonymous SNV RYR1:NM_000540:exon51:c.T8190C:p.D2730D,RYR1:NM_001042723:exon51:c.T8190C:p.D2730D 0.42 0.52 0.37 0.35 0.31 0.49 0.3294 0.4704 0.4076 0.3434 0.3051 0.2635 0.3153 0.4553 0.32 0.46 0.25 0.35 0.27 rs2915951 COSM148612 1(stomach);2(haematopoietic_and_lymphoid_tissue) Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Central_core_disease|Malignant_hyperthermia_susceptibility|Multiminicore_Disease|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber RCV000079176.8|RCV000119741.1|RCV000276810.1|RCV000299073.1|RCV000311779.1|RCV000371398.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:Orphanet|MedGen|MedGen CN169374|CN221809|C0751951:117000:ORPHA597:43152001|C0024591:ORPHA423|C2673970|C2674259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3283 0.4708 0.3981 0.2560 0.3408 0.3059 0.2617 0.3134 0.4582 0.3285 0.4675 0.3505 0.2583 0.3755 0.2993 0.2510 0.3082 het 1051.68 82 19 38995510 . T C 1051.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.008;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1279;MQ=56.98;MQ0=0;MQRankSum=0.274;QD=12.83;ReadPosRankSum=0.561;VQSLOD=4.3813;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,42:82:99:1082,0,1054 19 38995975 38995975 G A exonic RYR1 synonymous SNV RYR1:NM_000540:exon53:c.G8337A:p.E2779E,RYR1:NM_001042723:exon53:c.G8337A:p.E2779E 0.41 0.49 0.37 0.35 0.3 0.49 0.3294 0.4455 0.4094 0.3422 0.3141 0.2649 0.3187 0.4604 0.31 0.43 0.25 0.34 0.27 rs2915952 COSM148613 1(stomach);1(large_intestine) Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Central_core_disease|Multiminicore_Disease|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber|Malignant_hyperthermia_susceptibility RCV000079177.8|RCV000119745.1|RCV000293580.1|RCV000344459.1|RCV000348376.1|RCV000383245.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen:Orphanet CN169374|CN221809|C0751951:117000:ORPHA597:43152001|C2673970|C2674259|C0024591:ORPHA423 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3189 0.4341 0.3913 0.2419 0.3388 0.2946 0.2531 0.3064 0.4559 0.3169 0.4375 0.3496 0.2384 0.3776 0.2898 0.2472 0.3027 het 506.21 52 19 38995975 . G A 506.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.743;DP=52;Dels=0.00;FS=1.075;HRun=2;HaplotypeScore=0.9958;MQ=57.57;MQ0=0;MQRankSum=0.028;QD=9.73;ReadPosRankSum=0.450;VQSLOD=4.5734;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,24:52:99:536,0,690 19 38996990 38996990 T C exonic RYR1 synonymous SNV RYR1:NM_000540:exon55:c.T8589C:p.S2863S,RYR1:NM_001042723:exon55:c.T8589C:p.S2863S 0.41 0.49 0.37 0.35 0.31 0.49 0.3265 0.4402 0.4059 0.3432 0.3048 0.2631 0.3161 0.4555 0.31 0.43 0.25 0.33 0.28 rs2229146 COSM148614 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Central_core_disease|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber|Malignant_hyperthermia_susceptibility|Multiminicore_Disease RCV000079178.8|RCV000119753.1|RCV000281789.1|RCV000304127.1|RCV000339193.1|RCV000403926.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen:Orphanet|MedGen CN169374|CN221809|C0751951:117000:ORPHA597:43152001|C2674259|C0024591:ORPHA423|C2673970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3256 0.4397 0.3954 0.2460 0.3409 0.3058 0.2616 0.3117 0.4585 0.3204 0.4390 0.3498 0.2417 0.3758 0.3 0.2509 0.3080 het 1327.27 136 19 38996990 . T C 1327.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.072;DP=136;Dels=0.00;FS=5.445;HRun=0;HaplotypeScore=2.3391;MQ=58.68;MQ0=0;MQRankSum=0.036;QD=9.76;ReadPosRankSum=0.104;VQSLOD=5.2992;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,55:136:99:1357,0,1985 19 39002725 39002725 A G exonic RYR1 synonymous SNV RYR1:NM_000540:exon62:c.A9186G:p.P3062P,RYR1:NM_001042723:exon62:c.A9186G:p.P3062P 0.41 0.49 0.37 0.35 0.3 0.49 0.3251 0.4402 0.4010 0.3409 0.3070 0.2613 0.3147 0.4572 0.31 0.43 0.25 0.34 0.24 rs2071089 COSM3756756 1(thyroid);1(large_intestine) Benign|not provided|Benign|Benign|Benign|Benign not_specified|not_provided|Malignant_hyperthermia_susceptibility|Central_core_disease|Neuromuscular_disease\x2c_congenital\x2c_with_uniform_type_1_fiber|Multiminicore_Disease RCV000079184.8|RCV000119767.1|RCV000293902.1|RCV000297297.1|RCV000351185.1|RCV000406849.1 MedGen|MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen CN169374|CN221809|C0024591:ORPHA423|C0751951:117000:ORPHA597:43152001|C2674259|C2673970 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3232 0.4381 0.3923 0.2442 0.3402 0.3063 0.2579 0.3094 0.4579 0.3203 0.4374 0.3508 0.2384 0.3770 0.3012 0.2514 0.3053 het 503.44 58 19 39002725 . A G 503.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.229;DP=58;Dels=0.00;FS=5.926;HRun=1;HaplotypeScore=0.9996;MQ=59.68;MQ0=0;MQRankSum=0.649;QD=8.68;ReadPosRankSum=0.681;VQSLOD=5.2848;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,22:58:99:533,0,971 19 39196745 39196745 C T exonic ACTN4 synonymous SNV ACTN4:NM_001322033:exon5:c.C546T:p.N182N,ACTN4:NM_004924:exon5:c.C546T:p.N182N 0.34 0.23 0.29 0.43 0.44 0.33 0.4105 0.2525 0.2646 0.4413 0.4791 0.4552 0.4240 0.3873 0.39 0.25 0.46 0.35 0.38 rs3745859 COSM3756761 1(large_intestine) Benign not_specified RCV000250045.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4109 0.2502 0.2805 0.3960 0.4340 0.4793 0.4624 0.3975 0.3910 0.4046 0.2583 0.3158 0.3926 0.3949 0.4937 0.4732 0.4356 hom 2448.99 80 19 39196745 . C T 2448.99 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.42;MQ0=0;QD=30.61;VQSLOD=9.4523;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2482,199,0 19 39224413 39224413 A G exonic CAPN12 synonymous SNV CAPN12:NM_144691:exon18:c.T1887C:p.F629F 0.8 0.98 0.68 0.64 0.78 0.84 0.7654 0.9520 0.6348 0.6396 0.7242 0.7588 0.7888 0.8474 0.82 0.95 0.75 0.81 0.72 rs4801861 COSM4000716 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7567 0.9567 0.6401 0.7574 0.6308 0.7318 0.7625 0.7512 0.8530 0.8039 0.9509 0.6599 0.7715 0.6290 0.7456 0.7629 0.7490 hom 2863.94 86 19 39224413 . A G 2863.94 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.46;MQ0=0;QD=33.30;VQSLOD=10.0691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2897,226,0 19 39233146 39233146 A G exonic CAPN12 synonymous SNV CAPN12:NM_144691:exon3:c.T330C:p.A110A 0.67 0.54 0.62 0.62 0.77 0.84 0.7278 0.5551 0.6221 0.6300 0.7305 0.7539 0.7664 0.8477 0.68 0.54 0.75 0.61 0.57 rs936524 COSM3933026 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7206 0.5447 0.6113 0.7051 0.6115 0.7298 0.7572 0.7241 0.8518 0.6835 0.5486 0.6148 0.71 0.5969 0.7435 0.7582 0.7277 hom 827.39 27 19 39233146 . A G 827.39 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.37;MQ0=0;QD=30.64;VQSLOD=8.8817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:69.18:860,69,0 19 39308190 39308190 C T exonic ECH1 synonymous SNV ECH1:NM_001398:exon4:c.G375A:p.S125S 0.18 0.21 0.12 0.1 0.13 0.32 0.1595 0.1991 0.1273 0.1032 0.1043 0.1380 0.1526 0.3019 0.16 0.2 0.13 0.26 0.16 rs15570 COSM5426476 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1517 0.1995 0.1231 0.1296 0.1048 0.1040 0.1365 0.1431 0.2838 0.1439 0.1975 0.0990 0.1358 0.1071 0.1059 0.1286 0.1378 het 712.27 61 19 39308190 . C T 712.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.719;DP=61;Dels=0.00;FS=2.226;HRun=0;HaplotypeScore=4.7764;MQ=59.62;MQ0=0;MQRankSum=-1.177;QD=11.68;ReadPosRankSum=-2.737;VQSLOD=3.4262;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,29:61:99:742,0,859 19 39322087 39322087 T G exonic ECH1 nonsynonymous SNV ECH1:NM_001398:exon2:c.A122C:p.E41A 0.36 0.2 0.42 0.24 0.59 0.44 0.4727 0.2487 0.3704 0.2305 0.5381 0.5547 0.5055 0.4530 0.45 0.25 0.55 0.32 0.53 rs9419 COSM4131790 1(thyroid) . . . . . . . . . . . 0.168 0.230 T 0.029 0.185 B 0.008 0.127 B 0.848 0.070 U 1 0.090 P 1.04 0.263 L -0.03 0.686 T -0.46 0.150 N 0.098 0.100 -0.928 0.445 T 0.000 0.000 T . . . 2.675 0.383 20.7 0.869 0.163 0.079 0.137 N c -0.963 -0.933 1.000 0.747 0.442 0.072 0 2.94 0.330 0.823 0.268 0.891 0.395 0.003 0.159 0.018 0.130 5.329 0.151 . ENSG00000187994.9|ENSG00000178934.4|ENSG00000205076.4|ENSG00000205076.4|ENSG00000178934.4|ENSG00000205076.4|ENSG00000104823.4 Artery_Aorta|Esophagus_Mucosa|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.4717 0.2420 0.3801 0.4557 0.2323 0.5368 0.5599 0.4974 0.4539 0.4469 0.2544 0.3995 0.4437 0.2014 0.5364 0.5638 0.5031 het 1699.11 103 19 39322087 . T G 1699.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.810;DP=103;Dels=0.00;FS=4.877;HRun=0;HaplotypeScore=4.8382;MQ=59.14;MQ0=0;MQRankSum=0.166;QD=16.50;ReadPosRankSum=-0.430;VQSLOD=4.8302;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,63:103:99:1729,0,1019 19 39416887 39416887 C T exonic SARS2 synonymous SNV SARS2:NM_001145901:exon2:c.G321A:p.E107E,SARS2:NM_017827:exon2:c.G321A:p.E107E 0.19 0.087 0.16 0.33 0.19 0.21 0.1773 0.0976 0.1423 0.3106 0.2210 0.1685 0.1829 0.1999 0.14 0.095 0.16 0.17 0.2 rs11544093 COSM4418884;COSM4418885 1(haematopoietic_and_lymphoid_tissue) Likely benign Hyperuricemia\x2c_pulmonary_hypertension\x2c_renal_failure\x2c_and_alkalosis RCV000381581.1 MedGen:OMIM:Orphanet C3151209:613845:ORPHA363694 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1758 0.0938 0.1425 0.1699 0.3100 0.2202 0.1643 0.1664 0.1979 0.1629 0.0977 0.1301 0.1523 0.3085 0.2298 0.1703 0.1834 het 1022.80 100 19 39416887 . C T 1022.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.113;DP=100;Dels=0.00;FS=0.778;HRun=1;HaplotypeScore=1.5572;MQ=58.90;MQ0=1;MQRankSum=-0.376;QD=10.23;ReadPosRankSum=1.090;VQSLOD=6.0098;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,39:100:99:1053,0,1573 19 39433299 39433299 A G exonic FBXO17 synonymous SNV FBXO17:NM_024907:exon6:c.T786C:p.Y262Y,FBXO17:NM_148169:exon6:c.T813C:p.Y271Y 0.84 0.92 0.83 0.98 0.67 0.75 0.7096 0.8864 0.8038 0.9689 0.6918 0.6302 0.7086 0.7245 0.71 0.88 0.62 0.91 0.57 rs8113389 COSM1129866 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7084 0.8852 0.7969 0.7534 0.9650 0.6934 0.6194 0.6968 0.7173 0.7247 0.8799 0.7745 0.7517 0.9623 0.6936 0.6154 0.6792 hom 7289.83 241 19 39433299 . A G 7289.83 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.577;DP=241;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.4896;MQ=59.18;MQ0=0;MQRankSum=-1.617;QD=30.25;ReadPosRankSum=-1.689;VQSLOD=2.3578;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,240:241:99:7251,568,0 19 39876646 39876646 A G exonic PAF1 nonsynonymous SNV PAF1:NM_001256826:exon13:c.T1367C:p.I456T 0.0044 . 0.0086 . 0.005 0.011 0.0094 0.0023 0.0051 0 0.0018 0.0116 0.0078 0.0164 0.009 0.0048 0.011 . . rs145242944 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.810 D . . . . . . . . . . . -0.997 0.308 T 0.081 0.319 T . . . 0.183 0.111 4.499 0.682 0.083 0.351 0.250 N c -0.608 -0.520 1.000 0.489 0.672 0.522 0 -0.145 0.127 0.570 0.232 -0.933 0.025 1.000 0.715 0.985 0.512 0.942 0.013 . . . 0.0091 0.0021 0.0058 0.0080 0 0.0019 0.0117 0.0113 0.0168 0.0051 0.0018 0.0048 0.0099 0 0.0026 0.0079 0.0061 het 990.17 97 19 39876646 . A G 990.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.862;DP=97;Dels=0.00;FS=4.260;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.654;QD=10.21;ReadPosRankSum=-1.001;VQSLOD=4.2278;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,38:97:99:1020,0,1453 19 39915637 39915637 G A exonic PLEKHG2 synonymous SNV PLEKHG2:NM_022835:exon19:c.G3864A:p.Q1288Q 0.6 0.68 0.51 0.6 0.54 0.62 0.5511 0.6619 0.5323 0.5746 0.6089 0.5251 0.5502 0.5660 0.56 0.66 0.51 0.62 0.47 rs31727 COSM3756779 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5460 0.6585 0.5290 0.5599 0.5721 0.6138 0.5147 0.5618 0.5504 0.5804 0.6601 0.5346 0.55 0.5713 0.6101 0.5333 0.5501 het 1558.54 93 19 39915637 . G A 1558.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.749;DP=93;Dels=0.00;FS=5.333;HRun=1;HaplotypeScore=1.9895;MQ=59.50;MQ0=0;MQRankSum=0.330;QD=16.76;ReadPosRankSum=0.019;VQSLOD=5.6929;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,53:93:99:1589,0,1050 19 39915758 39915758 C G exonic PLEKHG2 nonsynonymous SNV PLEKHG2:NM_022835:exon19:c.C3985G:p.P1329A 0.59 0.68 0.51 0.6 0.53 0.59 0.5527 0.6647 0.5316 0.5725 0.6189 0.5296 0.5630 0.5634 0.58 0.68 0.53 0.61 0.39 rs31728 COSM3756780 1(urinary_tract);1(thyroid);3(large_intestine) . . . . . . . . . . . . . . 0.582 0.764 P 0.134 0.782 B 0.001 0.416 D 0.844 0.588 P 1.04 0.263 L . . . . . . 0.117 0.308 -0.846 0.523 T 0.000 0.000 T . . . 4.517 0.605 24.3 0.996 0.751 0.372 0.255 N c 0.080 0.019 1.000 0.747 0.672 0.522 0 3.03 0.339 1.458 0.346 0.852 0.362 0.174 0.238 0.954 0.431 9.195 0.362 . ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105197.6|ENSG00000196235.9|ENSG00000105197.6 Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis 0.5447 0.6580 0.5277 0.5551 0.5743 0.6168 0.5148 0.5527 0.5363 0.5787 0.6577 0.5288 0.5364 0.5760 0.6131 0.5309 0.5461 het 70.35 25 19 39915758 . C G 70.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.295;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=57.54;MQ0=0;MQRankSum=0.105;QD=2.81;ReadPosRankSum=0.595;VQSLOD=4.4705;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,8:25:99:100,0,489 19 39926509 39926509 A C exonic RPS16 synonymous SNV RPS16:NM_001020:exon1:c.T27G:p.S9S,RPS16:NM_001321111:exon1:c.T27G:p.S9S 0.51 0.71 0.38 0.55 0.38 0.43 0.3972 0.6537 0.3331 0.5364 0.3944 0.3514 0.3622 0.3965 0.44 0.64 0.34 0.56 0.35 rs17628 COSM4131811 5(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3897 0.6572 0.3345 0.3996 0.5335 0.3944 0.3465 0.3771 0.3893 0.4561 0.6479 0.3437 0.4040 0.5362 0.3895 0.3630 0.3908 het 1360.01 119 19 39926509 . A C 1360.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.192;DP=119;Dels=0.00;FS=3.367;HRun=1;HaplotypeScore=5.9757;MQ=58.70;MQ0=0;MQRankSum=0.758;QD=11.43;ReadPosRankSum=-0.189;VQSLOD=4.3592;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,58:119:99:1390,0,1604 19 39926521 39926521 G A exonic RPS16 synonymous SNV RPS16:NM_001020:exon1:c.C15T:p.G5G,RPS16:NM_001321111:exon1:c.C15T:p.G5G 0.51 0.71 0.38 0.55 0.38 0.43 0.3975 0.6543 0.3352 0.5360 0.3936 0.3515 0.3625 0.3965 0.44 0.64 0.34 0.56 0.34 rs17626 COSM3756782 5(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3898 0.6569 0.3350 0.3996 0.5335 0.3955 0.3465 0.3791 0.3893 0.4554 0.6479 0.3437 0.4033 0.5356 0.3895 0.3619 0.3900 het 1070.23 99 19 39926521 . G A 1070.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.876;DP=99;Dels=0.00;FS=2.856;HRun=0;HaplotypeScore=2.1562;MQ=58.64;MQ0=0;MQRankSum=-0.284;QD=10.81;ReadPosRankSum=0.543;VQSLOD=5.7588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,47:99:99:1100,0,1422 19 39955533 39955533 G A exonic SUPT5H synonymous SNV SUPT5H:NM_001130825:exon10:c.G708A:p.E236E,SUPT5H:NM_001319991:exon10:c.G708A:p.E236E,SUPT5H:NM_003169:exon10:c.G720A:p.E240E,SUPT5H:NM_001111020:exon11:c.G720A:p.E240E,SUPT5H:NM_001130824:exon11:c.G720A:p.E240E,SUPT5H:NM_001319990:exon11:c.G720A:p.E240E 0.14 0.16 0.13 0.11 0.17 0.1 0.1450 0.1583 0.1053 0.0945 0.1705 0.1626 0.1369 0.1097 0.17 0.16 0.17 0.087 0.13 rs2304217 COSM5619078 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1466 0.1568 0.1132 0.1373 0.0980 0.1793 0.1676 0.1475 0.1082 0.1712 0.1565 0.1110 0.1391 0.1043 0.1837 0.1887 0.1609 het 2130.42 186 19 39955533 . G A 2130.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.465;DP=186;Dels=0.00;FS=2.583;HRun=1;HaplotypeScore=12.4861;MQ=58.95;MQ0=0;MQRankSum=-1.036;QD=11.45;ReadPosRankSum=-0.726;VQSLOD=2.9722;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,82:186:99:2160,0,2952 19 39971432 39971432 G C exonic TIMM50 nonsynonymous SNV TIMM50:NM_001001563:exon1:c.G248C:p.S83T 0.14 0.16 0.13 0.11 0.17 0.12 0.1753 0.1909 0.1417 0.1195 0.2198 0.1929 0.1620 0.1362 0.16 0.15 0.17 0.087 0.057 rs2304220 COSM3756784 1(large_intestine) . . . . . . . . . . . 0.015 0.524 D 0.065 0.220 B 0.056 0.247 B 0.241 0.157 N 1 0.090 P . . . . . . 0.04 0.065 N 0.009 0.001 -1.062 0.114 T 0.000 0.001 T . . . 1.132 0.203 11.39 0.951 0.255 0.065 0.124 N c -0.707 -0.749 1.0 0.983 0.025 0.001 3 2.29 0.275 1.734 0.376 1.045 0.669 0.013 0.187 0.001 0.043 5.787 0.175 . ENSG00000196235.9|ENSG00000196235.9|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000196235.9|ENSG00000105197.6|ENSG00000196235.9 Adrenal_Gland|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Prostate|Testis|Thyroid 0.1496 0.1585 0.1147 0.1375 0.0993 0.1804 0.1708 0.1510 0.1213 0.1716 0.1567 0.1122 0.1391 0.1048 0.1837 0.1890 0.1670 het 218.17 16 19 39971432 . G C 218.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.263;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.158;QD=13.64;ReadPosRankSum=-0.683;VQSLOD=11.1603;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:248,0,249 19 39994711 39994711 T C exonic DLL3 nonsynonymous SNV DLL3:NM_016941:exon5:c.T653C:p.L218P,DLL3:NM_203486:exon5:c.T653C:p.L218P 0.63 0.75 0.52 0.61 0.56 0.63 0.5686 0.7279 0.5349 0.5734 0.6534 0.5398 0.5621 0.5724 0.59 0.72 0.52 0.64 0.54 rs1110627 COSM3756786;COSM3756785 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign|Benign|Benign|Benign Spondylocostal_dysostosis_1\x2c_autosomal_recessive|not_specified|Jarcho-Levin_syndrome|Syndactyly RCV000034281.3|RCV000250053.2|RCV000278565.1|RCV000375159.1 MedGen:OMIM|MedGen|MedGen:SNOMED_CT|MedGen:Orphanet CN032975:277300|CN169374|C0265343:61367005|C0039075:ORPHA90025 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.172 0.031 N 0.499 0.317 P -3.15 0.000 N -2.41 0.890 D 3.4 0.001 N 0.083 0.120 -0.971 0.370 T 0.000 0.000 T . . . -0.157 0.080 1.341 0.050 0.000 0.051 0.107 N c -1.207 -1.061 1.000 0.467 0.610 0.352 0 0.831 0.179 2.447 0.443 0.069 0.176 0.959 0.333 0.002 0.062 8.004 0.293 EGF-like domain ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105193.4|ENSG00000105197.6|ENSG00000196235.9|ENSG00000105197.6|ENSG00000105193.4 Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis 0.5634 0.7278 0.5322 0.5646 0.5724 0.6510 0.5311 0.5759 0.5628 0.6116 0.7193 0.5274 0.5563 0.5501 0.6485 0.5549 0.5798 het 738.91 72 19 39994711 . T C 738.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.796;DP=72;Dels=0.00;FS=1.006;HRun=0;HaplotypeScore=0.9789;MQ=59.68;MQ0=0;MQRankSum=-0.491;QD=10.26;ReadPosRankSum=0.606;VQSLOD=6.5754;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,28:72:99:769,0,1098 19 39996027 39996027 C T exonic DLL3 synonymous SNV DLL3:NM_016941:exon6:c.C1029T:p.P343P,DLL3:NM_203486:exon6:c.C1029T:p.P343P 0.24 0.14 0.26 0.15 0.34 0.36 0.3041 0.1765 0.3089 0.1149 0.3809 0.3325 0.3344 0.3329 0.28 0.18 0.33 0.18 0.35 rs2304214 COSM3756788;COSM3756787 1(breast);1(large_intestine) Benign|Benign|Benign not_specified|Jarcho-Levin_syndrome|Syndactyly RCV000252517.2|RCV000310386.1|RCV000402155.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet CN169374|C0265343:61367005|C0039075:ORPHA90025 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3075 0.1708 0.3072 0.2962 0.1159 0.3839 0.3344 0.3375 0.3284 0.2911 0.1703 0.3019 0.2914 0.1088 0.4009 0.3521 0.3357 het 4239.82 250 19 39996027 . C T 4239.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.411;DP=250;DS;Dels=0.00;FS=4.716;HRun=0;HaplotypeScore=6.0457;MQ=59.37;MQ0=0;MQRankSum=-0.968;QD=16.96;ReadPosRankSum=-1.112;VQSLOD=3.9816;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,123:250:99:3549,0,3264 19 40023308 40023308 A G exonic EID2B synonymous SNV EID2B:NM_152361:exon1:c.T135C:p.A45A 0.8 0.86 0.65 0.84 0.74 0.84 0.7529 0.8667 0.6048 0.8074 0.8400 0.7370 0.7672 0.7962 0.78 0.87 0.73 0.65 0.49 rs1123301 COSM439481 10(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7458 0.8651 0.6149 0.6833 0.8164 0.8424 0.7337 0.7411 0.7919 0.7978 0.8630 0.6277 0.6887 0.8036 0.8467 0.7599 0.7912 het 153.88 16 19 40023308 . A G 153.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.847;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.164;QD=9.62;ReadPosRankSum=0.318;VQSLOD=10.5157;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,7:16:99:184,0,229 19 40030704 40030704 C T exonic EID2 nonsynonymous SNV EID2:NM_153232:exon1:c.G16A:p.A6T 0.2 0.067 0.17 0.24 0.24 0.31 0.2465 0.0876 0.2296 0.2366 0.3201 0.2469 0.2453 0.3124 0.17 0.087 0.2 0.13 0.29 rs7252027 COSM3766341 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.029 0.457 D 0.938 0.506 P 0.363 0.415 B 0.481 0.050 U 0.998 0.226 P 0.695 0.181 N -2.25 0.873 D -1.7 0.404 N 0.037 0.017 -1.097 0.045 T 0.000 0.000 T . . . 3.839 0.518 23.4 0.992 0.540 0.046 0.101 N c -0.356 -0.478 1.000 0.747 0.442 0.072 0 0.166 0.142 -0.105 0.108 0.035 0.151 0.034 0.205 0.267 0.231 3.575 0.074 . ENSG00000171747.4 Cells_Transformed_fibroblasts 0.2401 0.0784 0.2217 0.1936 0.2354 0.3146 0.2379 0.2489 0.3097 0.2034 0.0831 0.2249 0.1689 0.1930 0.3166 0.2439 0.2628 het 772.85 55 19 40030704 . C T 772.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.113;DP=55;Dels=0.00;FS=1.067;HRun=0;HaplotypeScore=0.9867;MQ=58.90;MQ0=0;MQRankSum=-0.615;QD=14.05;ReadPosRankSum=-0.910;VQSLOD=5.8875;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,34:55:99:803,0,496 19 40196611 40196611 C T exonic LGALS14 nonsynonymous SNV LGALS14:NM_203471:exon2:c.C64T:p.R22C 0.05 0.036 0.065 . 0.15 0.014 0.0896 0.0443 0.0604 0 0.1685 0.1206 0.0925 0.0283 0.1 0.054 0.13 0.076 0.16 rs35541195 . . . . . . . . . . . . . 0.056 0.381 T 0.301 0.308 B 0.001 0.040 B . . . 1 0.090 P . . . 3.01 0.091 T -0.22 0.105 N 0.015 0.002 -0.948 0.413 T 0.000 0.000 T . . . 2.328 0.341 18.35 0.839 0.145 0.009 0.034 N c -1.162 -1.281 1.000 0.747 0.487 0.133 0 -0.462 0.115 -0.379 0.074 -0.650 0.041 0.000 0.063 0.001 0.043 3.732 0.080 Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain . . 0.0917 0.0456 0.0628 0.0963 0.0001 0.1658 0.1226 0.1107 0.0295 0.0968 0.0490 0.0776 0.0728 0.0006 0.1690 0.1185 0.1173 het 1363 151 19 40196611 . C T 1363 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.772;DP=151;Dels=0.00;FS=1.324;HRun=0;HaplotypeScore=5.2249;MQ=59.60;MQ0=0;MQRankSum=1.540;QD=9.03;ReadPosRankSum=-0.036;VQSLOD=4.1059;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,62:151:99:1393,0,2198 19 40197278 40197278 C T exonic LGALS14 synonymous SNV LGALS14:NM_020129:exon2:c.C57T:p.C19C,LGALS14:NM_203471:exon3:c.C144T:p.C48C 0.0002 . . . 0.001 . 8.24e-05 0 0 0 0 0.0001 0 6.061e-05 . . . . . rs143548297 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.88e-05 0 5.956e-05 0 0 0 8.078e-05 0 3.249e-05 0.0001 0.0001 0 0 0 0 0.0002 0 het 2728.85 250 19 40197278 . C T 2728.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.034;DP=250;DS;Dels=0.00;FS=0.467;HRun=0;HaplotypeScore=3.7348;MQ=59.46;MQ0=0;MQRankSum=1.489;QD=10.92;ReadPosRankSum=-0.312;VQSLOD=4.3712;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,109:250:99:2759,0,3738 19 40197924 40197924 T C exonic LGALS14 nonsynonymous SNV LGALS14:NM_020129:exon3:c.T199C:p.C67R,LGALS14:NM_203471:exon4:c.T286C:p.C96R 0.64 0.8 0.52 0.38 0.7 0.69 0.6421 0.7942 0.3844 0.3498 0.6925 0.6811 0.6553 0.7004 0.71 0.79 0.67 0.6 0.72 rs4830 COSM3756789;COSM148619 1(stomach);3(prostate);3(large_intestine) . . . . . . . . . . . 0.992 0.020 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.72 0.003 N 3.43 0.055 T 3.34 0.001 N 0.029 0.015 -1.026 0.216 T 0.000 0.000 T . . . -0.953 0.034 0.020 0.102 0.001 0.000 0.001 N c -1.699 -1.676 0.997 0.352 0.507 0.198 0 1.05 0.192 0.202 0.170 -0.643 0.041 0.012 0.185 0.001 0.043 3.502 0.072 Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain . . 0.6266 0.7963 0.3911 0.6989 0.3436 0.6914 0.6786 0.6255 0.6995 0.6915 0.7891 0.4439 0.6987 0.3273 0.7097 0.6865 0.6429 het 2786.80 250 19 40197924 . T C 2786.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.214;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.47;MQ0=0;MQRankSum=1.370;QD=11.15;ReadPosRankSum=1.298;VQSLOD=6.4409;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:2817,0,3919 19 40199914 40199914 C G exonic LGALS14 nonsynonymous SNV LGALS14:NM_020129:exon4:c.C381G:p.F127L,LGALS14:NM_203471:exon5:c.C468G:p.F156L 0.63 0.79 0.52 0.38 0.7 0.69 0.6416 0.7881 0.3840 0.3491 0.6924 0.6812 0.6542 0.7001 0.71 0.78 0.67 0.6 0.71 rs10755 COSM3756790;COSM148620 1(stomach);2(prostate);3(large_intestine) . . . . . . . . . . . 0.672 0.091 T 0.0 0.135 B 0.0 0.040 B . . . 1 0.090 P 0.895 0.225 L 3.5 0.050 T -1.58 0.389 N 0.044 0.024 -1.020 0.238 T 0.000 0.000 T . . . 0.053 0.099 3.110 0.324 0.019 0.000 0.002 N c -1.569 -1.635 0.999 0.394 0.507 0.198 0 -0.278 0.122 -0.750 0.049 -2.900 0.002 0.020 0.195 0.000 0.016 2.484 0.043 Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain . . 0.6262 0.7901 0.3902 0.6992 0.3432 0.6911 0.6788 0.6241 0.6994 0.6899 0.7835 0.4436 0.6987 0.3248 0.7095 0.6868 0.6421 het 1109.21 101 19 40199914 . C G 1109.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.334;DP=101;Dels=0.00;FS=3.879;HRun=0;HaplotypeScore=2.9314;MQ=59.03;MQ0=0;MQRankSum=-0.982;QD=10.98;ReadPosRankSum=-0.341;VQSLOD=5.6077;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,43:101:99:1139,0,1539 19 40224986 40224986 A G exonic CLC synonymous SNV CLC:NM_001828:exon3:c.T240C:p.N80N 0.61 0.75 0.51 0.34 0.7 0.68 0.6303 0.7671 0.3803 0.3253 0.6882 0.6713 0.6476 0.6884 0.7 0.76 0.67 0.55 0.72 rs384138 COSM1129862 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6159 0.7680 0.3869 0.6946 0.3195 0.6876 0.6694 0.6102 0.6868 0.6803 0.7696 0.4402 0.6954 0.3142 0.7044 0.6782 0.6309 het 3930.96 250 19 40224986 . A G 3930.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.304;DP=250;DS;Dels=0.00;FS=1.970;HRun=0;HaplotypeScore=0.9992;MQ=59.57;MQ0=0;MQRankSum=-0.960;QD=15.72;ReadPosRankSum=0.476;VQSLOD=6.0641;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3271,0,3666 19 40225646 40225646 G A exonic CLC nonsynonymous SNV CLC:NM_001828:exon2:c.C83T:p.A28V 0.61 0.76 0.52 0.34 0.7 0.68 0.6311 0.7763 0.3806 0.3244 0.6875 0.6714 0.6476 0.6884 0.7 0.77 0.67 0.55 0.72 rs17608 COSM148621 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(prostate);3(large_intestine) . . . . . . . . . . . 0.602 0.056 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.95 0.013 N 2.28 0.173 T 1.2 0.011 N 0.006 0.000 -1.033 0.194 T 0.000 0.000 T . . . -0.739 0.043 0.059 0.153 0.004 0.000 0.001 N c -1.648 -1.684 0.015 0.127 0.615 0.372 0 0.725 0.173 -0.592 0.058 -1.288 0.014 0.000 0.063 0.000 0.016 . . Concanavalin A-like lectin/glucanase domain|Galectin\x2c carbohydrate recognition domain . . 0.6166 0.7771 0.3874 0.6948 0.3193 0.6873 0.6695 0.6114 0.6868 0.6825 0.7765 0.4435 0.6954 0.3116 0.7044 0.6790 0.6314 het 1037.01 93 19 40225646 . G A 1037.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.040;DP=93;Dels=0.00;FS=1.774;HRun=0;HaplotypeScore=1.9581;MQ=59.11;MQ0=0;MQRankSum=1.242;QD=11.15;ReadPosRankSum=0.043;VQSLOD=6.7053;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,41:93:99:1067,0,1446 19 40360928 40360928 G A exonic FCGBP synonymous SNV FCGBP:NM_003890:exon33:c.C15480T:p.R5160R 0.12 0.13 0.2 0.039 0.14 0.1 0.1448 0.1463 0.2001 0.0322 0.1229 0.1519 0.1448 0.1440 0.16 0.16 0.16 0.087 0.13 rs1053686 COSM148622 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1453 0.1444 0.1955 0.0675 0.0314 0.1228 0.1597 0.1369 0.1456 0.1476 0.1433 0.1993 0.0762 0.0345 0.1251 0.1667 0.1391 het 1398.04 103 19 40360928 . G A 1398.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.260;DP=103;Dels=0.01;FS=0.755;HRun=2;HaplotypeScore=3.9599;MQ=59.60;MQ0=0;MQRankSum=0.917;QD=13.44;ReadPosRankSum=-0.354;VQSLOD=6.1398;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,56:103:99:1428,0,1272 19 40366362 40366362 G C exonic FCGBP synonymous SNV FCGBP:NM_003890:exon30:c.C13872G:p.L4624L 0.75 0.9 0.6 0.79 0.64 0.73 0.6759 0.8793 0.5511 0.7812 0.6048 0.6495 0.6596 0.7198 0.72 0.87 0.65 0.71 0.58 rs3855679 COSM4131823 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6650 0.8813 0.5584 0.6475 0.7810 0.6026 0.6495 0.6446 0.7213 0.7084 0.8651 0.5883 0.6490 0.7846 0.5960 0.6466 0.6575 het 1309.96 89 19 40366362 . G C 1309.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.848;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=53.32;MQ0=0;MQRankSum=-3.138;QD=14.72;ReadPosRankSum=-0.666;VQSLOD=2.9861;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,48:89:99:1340,0,1101 19 40368498 40368498 A C exonic FCGBP nonsynonymous SNV FCGBP:NM_003890:exon28:c.T12850G:p.S4284A 1. 0.99 0.99 1. 1. 0.99 0.9655 0.9726 0.9647 0.9728 0.9608 0.9672 0.9594 0.9531 . . . . 0.95 rs12610683 COSM4591671 20(upper_aerodigestive_tract) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.363 0.136 N 1 0.090 P 0.15 0.089 N . . . . . . 0.08 0.072 -0.993 0.319 T 0.000 0.000 T . . . -1.987 0.008 0.001 0.265 0.013 0.002 0.013 N c -1.347 -1.314 0.000 0.029 0.581 0.326 0 1.86 0.244 0.295 0.187 -0.009 0.132 0.000 0.063 0.050 0.164 4.376 0.106 Uncharacterised domain\x2c cysteine-rich|von Willebrand factor\x2c type D domain . . 0.9971 0.9986 0.9982 0.9975 0.9988 0.9965 0.9964 0.9961 0.9972 0.9997 0.9995 1 1 1 1 0.9997 1 hom 2476.65 73 19 40368498 . A C 2476.65 Mask AC=2;AF=1.00;AN=2;DP=73;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9832;MQ=50.19;MQ0=0;QD=33.93;VQSLOD=4.0021;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2510,202,0 19 40368499 40368499 A C exonic FCGBP synonymous SNV FCGBP:NM_003890:exon28:c.T12849G:p.L4283L 1. 0.99 0.99 1. 1. 0.99 0.9655 0.9723 0.9641 0.9728 0.9611 0.9672 0.9593 0.9531 . . . . 0.93 rs11083540 COSM4595172 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9970 0.9985 0.9983 0.9973 0.9988 0.9964 0.9962 0.9959 0.9970 0.9996 0.9994 1 1 1 0.9997 0.9996 1 hom 2465.77 73 19 40368499 . A C 2465.77 Mask AC=2;AF=1.00;AN=2;DP=73;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9832;MQ=50.19;MQ0=0;QD=33.78;VQSLOD=3.4654;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2499,199,0 19 40406019 40406019 G A exonic FCGBP synonymous SNV FCGBP:NM_003890:exon10:c.C4827T:p.C1609C 0.26 0.16 0.4 0.22 0.34 0.27 0.3766 0.2109 0.5609 0.2373 0.4597 0.4071 0.3890 0.2952 . . . 0.2 0.28 rs2355719 COSM3756792 1(breast);1(urinary_tract);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3442 0.1921 0.4584 0.3545 0.2195 0.3973 0.3585 0.3599 0.2742 0.3020 0.2002 0.4061 0.3510 0.2117 0.3838 0.3432 0.3385 het 880.62 38 19 40406019 . G A 880.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.826;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6665;MQ=52.84;MQ0=2;MQRankSum=2.929;QD=23.17;ReadPosRankSum=0.648;VQSLOD=2.3805;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,32:38:14.01:911,0,14 19 40719497 40719497 A G exonic MAP3K10 synonymous SNV MAP3K10:NM_002446:exon9:c.A1911G:p.S637S 0.029 0.0023 0.13 0.001 0.013 0.039 0.0407 0.0061 0.2304 0.0001 0.0169 0.0181 0.0319 0.0373 0.01 0.0046 0.013 0.011 0.0082 rs34886198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0439 0.0054 0.2053 0.0056 0.0001 0.0177 0.0158 0.0366 0.0336 0.0160 0.0072 0.1912 0.0035 0 0.0218 0.0128 0.0159 het 143.68 15 19 40719497 . A G 143.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.059;DP=15;Dels=0.00;FS=3.136;HRun=1;HaplotypeScore=0.7887;MQ=58.45;MQ0=0;MQRankSum=-0.530;QD=9.58;ReadPosRankSum=-0.884;VQSLOD=4.6286;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,6:15:99:174,0,255 19 40886742 40886742 C T exonic HIPK4 nonsynonymous SNV HIPK4:NM_144685:exon3:c.G1156A:p.A386T 0.024 0.0038 0.14 . 0.0099 0.0051 0.0263 0.0053 0.2306 0.0001 0.0020 0.0038 0.0122 0.0101 0.0041 0.0039 0.0042 0.033 . rs56365273 . . . . . . . . . . . . . 0.059 0.375 T 0.002 0.090 B 0.001 0.040 B 0.832 0.069 N 1 0.090 P 0.46 0.130 N -0.22 0.665 T -0.41 0.140 N 0.05 0.031 -1.104 0.036 T 0.001 0.003 T . . . 0.857 0.176 9.809 0.888 0.177 0.010 0.039 N c -1.542 -1.587 0.001 0.076 0.517 0.208 0 -4.33 0.034 -1.689 0.020 -1.289 0.014 0.000 0.063 0.003 0.074 4.749 0.123 . . . 0.0343 0.0061 0.2186 0.0001 0.0002 0.0031 0.0041 0.0293 0.0093 0.0094 0.0063 0.1969 0 0.0006 0.0029 0.0035 0.0071 het 2412.93 180 19 40886742 . C T 2412.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.741;DP=180;Dels=0.00;FS=2.625;HRun=0;HaplotypeScore=4.4863;MQ=59.76;MQ0=0;MQRankSum=0.518;QD=13.41;ReadPosRankSum=-1.020;VQSLOD=4.6912;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,88:180:99:2443,0,2267 19 40900865 40900865 C T exonic PRX nonsynonymous SNV PRX:NM_181882:exon7:c.G3394A:p.G1132R 0.97 0.99 0.97 0.98 0.94 0.93 0.9469 0.9902 0.9527 0.9790 0.9400 0.9424 0.9424 0.9203 0.95 0.99 0.94 0.92 0.89 rs268674 COSM3756794 1(large_intestine) other|Benign not_specified|Charcot-Marie-Tooth\x2c_Type_4 RCV000118080.3|RCV000293783.1 MedGen|MedGen CN169374|CN239178 . . . . . . 0.129 0.268 T 0.0 0.026 B 0.0 0.013 B 0.602 0.109 N 1 0.090 P -0.625 0.021 N 4.2 0.027 T 0.79 0.019 N 0.023 0.006 -1.009 0.273 T 0.000 0.000 T . . . 0.019 0.095 2.769 0.687 0.085 0.008 0.033 N c -1.223 -1.157 0.000 0.071 0.696 0.567 0 3.64 0.407 -0.347 0.077 -0.266 0.087 0.000 0.063 0.017 0.128 6.691 0.222 . ENSG00000167565.8 Testis 0.9457 0.9909 0.9554 0.9441 0.9792 0.9399 0.9402 0.9361 0.9197 0.9599 0.9899 0.9678 0.9437 0.9691 0.9472 0.9444 0.9561 hom 3344.88 98 19 40900865 . C T 3344.88 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=59.53;MQ0=0;QD=34.13;VQSLOD=9.8662;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3345,268,0 19 40901496 40901496 T C exonic PRX nonsynonymous SNV PRX:NM_181882:exon7:c.A2763G:p.I921M 0.3 0.31 0.38 0.19 0.38 0.25 0.3504 0.3246 0.4374 0.1408 0.3565 0.3912 0.3308 0.2496 0.37 0.32 0.39 0.23 0.48 rs268673 COSM3756795 2(haematopoietic_and_lymphoid_tissue);2(liver);1(thyroid);1(large_intestine) Likely benign|Benign not_specified|Charcot-Marie-Tooth\x2c_Type_4 RCV000118077.2|RCV000265764.1 MedGen|MedGen CN169374|CN239178 . . . . . . 0.315 0.138 T 0.0 0.026 B 0.0 0.013 B 0.039 0.019 N 1 0.588 P -1.79 0.003 N 4.05 0.031 T 0.58 0.026 N 0.014 0.002 -0.919 0.457 T 0.000 0.000 T . . . -1.801 0.011 0.002 0.292 0.015 0.010 0.037 N c -1.550 -1.580 0.042 0.145 0.646 0.450 0 -5.36 0.025 -3.867 0.004 0.069 0.176 0.000 0.063 0.878 0.368 8.891 0.344 . ENSG00000167565.8 Skin_Sun_Exposed_Lower_leg 0.3523 0.3235 0.4313 0.3395 0.1431 0.3503 0.3942 0.3601 0.2499 0.3517 0.3290 0.4391 0.3576 0.1300 0.3443 0.3845 0.3652 hom 5343.88 159 19 40901496 . T C 5343.88 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6828;MQ=59.86;MQ0=0;QD=33.61;VQSLOD=9.6057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:159:99:5343,412,0 19 40901604 40901604 A G exonic PRX synonymous SNV PRX:NM_181882:exon7:c.T2655C:p.P885P 0.53 0.84 0.48 0.24 0.51 0.48 0.5070 0.8040 0.5177 0.1932 0.4579 0.5129 0.4889 0.4753 0.61 0.79 0.52 0.51 0.58 rs268672 COSM4131847 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Likely benign|Benign not_specified|Charcot-Marie-Tooth\x2c_Type_4 RCV000118076.2|RCV000326806.1 MedGen|MedGen CN169374|CN239178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4998 0.8074 0.5183 0.4695 0.1937 0.4528 0.5185 0.4998 0.4741 0.5686 0.8020 0.5337 0.4901 0.1805 0.4487 0.5106 0.4949 hom 3419.65 109 19 40901604 . A G 3419.65 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7190;MQ=57.63;MQ0=0;QD=31.37;VQSLOD=7.1440;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3419,289,0 19 40901614 40901614 A G exonic PRX nonsynonymous SNV PRX:NM_181882:exon7:c.T2645C:p.V882A 0.53 0.84 0.48 0.24 0.51 0.48 0.5069 0.8041 0.5175 0.1938 0.4580 0.5124 0.4889 0.4753 0.61 0.79 0.52 0.51 0.58 rs268671 COSM4000733 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Likely benign|Benign not_specified|Charcot-Marie-Tooth\x2c_Type_4 RCV000118075.2|RCV000388381.1 MedGen|MedGen CN169374|CN239178 . . . . . . 0.381 0.111 T 0.0 0.026 B 0.0 0.013 B 0.298 0.146 N 1 0.090 P -1.95 0.002 N 5.32 0.011 T -0.06 0.079 N 0.007 0.000 -1.137 0.015 T 0.000 0.000 T . . . -2.006 0.008 0.001 0.418 0.030 0.001 0.005 N c -1.276 -1.184 0.011 0.122 0.646 0.450 0 2.7 0.309 0.561 0.230 -0.334 0.073 0.000 0.063 0.001 0.043 7.230 0.251 . ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8 Artery_Tibial|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.4996 0.8072 0.5184 0.4695 0.1938 0.4529 0.5180 0.4993 0.4742 0.5680 0.8017 0.5337 0.4867 0.1818 0.4487 0.5097 0.4980 hom 3228.29 104 19 40901614 . A G 3228.29 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9783;MQ=57.24;MQ0=0;QD=31.04;VQSLOD=6.3827;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3261,280,0 19 40929363 40929363 T C exonic SERTAD1 nonsynonymous SNV SERTAD1:NM_013376:exon2:c.A91G:p.T31A 0.54 0.88 0.49 0.24 0.5 0.47 0.5069 0.8393 0.5227 0.1955 0.4433 0.5126 0.4724 0.4744 0.62 0.83 0.52 0.48 0.58 rs268687 COSM4978205 1(oesophagus) . . . . . . . . . . . 0.907 0.024 T 0.0 0.026 B 0.0 0.013 B 0.002 0.376 N 1 0.090 P 0 0.065 N 0.96 0.429 T -0.12 0.088 N 0.008 0.000 -0.988 0.330 T 0.000 0.000 T . . . -1.877 0.010 0.002 0.253 0.012 0.229 0.217 N c -1.301 -1.196 1.000 0.747 0.713 0.817 0 1.5 0.219 0.267 0.182 -0.287 0.084 0.981 0.351 0.734 0.317 3.704 0.079 . ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8|ENSG00000167565.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.5001 0.8474 0.5236 0.5037 0.1937 0.4404 0.5136 0.5067 0.4732 0.5781 0.8382 0.5300 0.5132 0.1901 0.4369 0.5097 0.5092 hom 2248.97 73 19 40929363 . T C 2248.97 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=30.81;VQSLOD=9.6480;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2282,189,0 19 41008049 41008049 A G exonic SPTBN4 synonymous SNV SPTBN4:NM_020971:exon9:c.A912G:p.V304V 0.38 0.66 0.25 0.18 0.36 0.31 0.3589 0.6141 0.2055 0.2180 0.3811 0.3727 0.3891 0.3132 0.45 0.61 0.37 0.43 0.3 rs814526 COSM3756797;COSM3756796 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3482 0.6206 0.2185 0.3763 0.2126 0.3789 0.3722 0.3546 0.3115 0.4188 0.6037 0.2422 0.4007 0.2033 0.3779 0.3580 0.3589 het 2043.18 147 19 41008049 . A G 2043.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.352;DP=147;Dels=0.00;FS=7.624;HRun=0;HaplotypeScore=10.8792;MQ=59.15;MQ0=0;MQRankSum=0.014;QD=13.90;ReadPosRankSum=0.943;VQSLOD=3.6128;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,74:147:99:2073,0,1748 19 41012190 41012190 C T exonic SPTBN4 synonymous SNV SPTBN4:NM_020971:exon13:c.C1713T:p.D571D 0.19 0.27 0.16 0.083 0.22 0.18 0.2104 0.2525 0.1332 0.0921 0.2007 0.2415 0.2262 0.1776 0.24 0.26 0.24 0.25 0.11 rs7258094 COSM3756799;COSM3756798 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2056 0.2544 0.1422 0.2155 0.0889 0.2026 0.2428 0.2183 0.1777 0.2179 0.2470 0.1599 0.2417 0.0850 0.2081 0.2223 0.1904 het 1461.22 105 19 41012190 . C T 1461.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.241;DP=105;Dels=0.00;FS=3.718;HRun=0;HaplotypeScore=3.5507;MQ=59.36;MQ0=0;MQRankSum=0.093;QD=13.92;ReadPosRankSum=-1.209;VQSLOD=5.7319;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,54:105:99:1491,0,1221 19 41096189 41096189 A G exonic SHKBP1 synonymous SNV SHKBP1:NM_138392:exon16:c.A1629G:p.T543T 0.58 0.82 0.5 0.41 0.5 0.55 0.5712 0.7953 0.5878 0.4617 0.6017 0.5415 0.5826 0.5785 0.59 0.77 0.5 0.59 0.39 rs396118 COSM439545 1(urinary_tract);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5245 0.7849 0.5399 0.5934 0.4211 0.5326 0.4855 0.5178 0.5526 0.5838 0.7743 0.5502 0.6093 0.4151 0.5227 0.5113 0.5206 hom 441.30 17 19 41096189 . A G 441.30 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;QD=25.96;VQSLOD=6.5117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:17:42.10:474,42,0 19 41111069 41111069 G A exonic LTBP4 unknown UNKNOWN 0.52 0.71 0.37 0.41 0.46 0.56 0.4994 0.6755 0.3528 0.4426 0.5176 0.4829 0.4716 0.5710 0.52 0.66 0.45 0.53 . rs2303729 COSM3766348;COSM3766349 1(liver) Benign|Benign not_specified|Cutis_laxa_with_severe_pulmonary\x2c_gastrointestinal\x2c_and_urinary_abnormalities RCV000151000.3|RCV000208652.2 MedGen|MedGen:OMIM:Orphanet CN169374|C2750804:613177:ORPHA221145 . . . . . . 0.18 0.219 T 0.0 0.026 B 0.0 0.013 B 0.408 0.130 N 1 0.090 P 0.55 0.145 N -1.33 0.800 T -0.27 0.125 N 0.029 0.010 -0.943 0.422 T 0.000 0.000 T . . . 1.290 0.220 12.22 0.991 0.517 0.106 0.159 N c -0.795 -0.656 1.000 0.747 0.767 0.994 0 1.86 0.244 -0.185 0.096 0.168 0.246 0.000 0.063 0.991 0.552 3.266 0.064 . ENSG00000090006.13|ENSG00000160410.10|ENSG00000160410.10|ENSG00000160410.10 Brain_Cerebellar_Hemisphere|Lung|Spleen|Whole_Blood 0.4618 0.6710 0.3108 0.5810 0.4188 0.4836 0.4448 0.4486 0.5583 0.5128 0.6580 0.3329 0.5960 0.4133 0.4764 0.4595 0.4570 hom 821.13 28 19 41111069 . G A 821.13 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.33;VQSLOD=13.0024;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:72.19:854,72,0 19 41118056 41118056 A G exonic LTBP4 unknown UNKNOWN 0.49 0.62 0.35 0.41 0.45 0.56 0.4590 0.5826 0.3128 0.4112 0.5299 0.4387 0.4498 0.5615 0.47 0.57 0.42 0.49 . rs1051303 COSM5427209;COSM1583007;COSM5427208 1(haematopoietic_and_lymphoid_tissue);1(meninges) Benign|Benign not_specified|Cutis_laxa_with_severe_pulmonary\x2c_gastrointestinal\x2c_and_urinary_abnormalities RCV000155549.2|RCV000208634.2 MedGen|MedGen:OMIM:Orphanet CN169374|C2750804:613177:ORPHA221145 . . . . . . 1.0 0.010 T 0.003 0.102 B 0.0 0.040 B 0.037 0.245 N 1 0.090 P -0.125 0.045 N -2.28 0.875 D 0.99 0.014 N 0.014 0.012 -0.946 0.416 T 0.000 0.000 T . . . -0.906 0.036 0.025 0.516 0.045 0.041 0.094 N c -1.821 -1.569 1.000 0.489 0.696 0.567 0 2.97 0.333 -0.072 0.114 -0.777 0.033 0.610 0.276 0.749 0.321 10.090 0.414 EGF-like calcium-binding domain|EGF-like calcium-binding\x2c conserved site|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|EGF-like domain|Growth factor receptor cysteine-rich domain;EGF-like calcium-binding domain|Growth factor receptor cysteine-rich domain ENSG00000090006.13|ENSG00000160410.10|ENSG00000160410.10 Brain_Cerebellar_Hemisphere|Lung|Whole_Blood 0.4400 0.5776 0.3002 0.5463 0.4123 0.5110 0.4128 0.4327 0.5561 0.4825 0.5741 0.3126 0.5695 0.4139 0.5020 0.4410 0.4631 het 400.23 30 19 41118056 . A G 400.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.986;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.747;QD=13.34;ReadPosRankSum=-0.913;VQSLOD=11.1837;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,15:30:99:430,0,392 19 41123093 41123093 - G exonic LTBP4 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1 1 0.9999 1. 1. 1. . . rs59030801 COSM5713346;COSM5713343;COSM5713344;COSM5713345;COSM5713342 6(central_nervous_system) not provided|Benign not_specified|Cutis_laxa_with_severe_pulmonary\x2c_gastrointestinal\x2c_and_urinary_abnormalities RCV000223220.1|RCV000314417.1 MedGen|MedGen:OMIM:Orphanet CN169374|C2750804:613177:ORPHA221145 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1.0000 1 1 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 1081.85 26 19 41123093 . A AG 1081.85 Mask AC=2;AF=1.00;AN=2;DP=26;FS=0.000;HRun=2;HaplotypeScore=52.1603;MQ=60.42;MQ0=0;QD=41.61;set=variant2 GT:AD:DP:GQ:PL 1/1:0,26:26:78.26:1124,78,0 19 41129842 41129842 C T exonic LTBP4 unknown UNKNOWN 0.52 0.8 0.33 0.36 0.43 0.53 0.4389 0.7498 0.2919 0.3614 0.5041 0.4024 0.4385 0.5191 0.51 0.74 0.4 0.53 . rs7367 . . Benign not_specified RCV000151005.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4298 0.7532 0.2956 0.5534 0.3738 0.4885 0.3876 0.4183 0.5207 0.5034 0.7359 0.2978 0.5762 0.3682 0.4787 0.4032 0.4287 het 191.97 19 19 41129842 . C T 191.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.715;DP=19;Dels=0.00;FS=2.017;HRun=0;HaplotypeScore=0.9867;MQ=58.78;MQ0=0;MQRankSum=0.531;QD=10.10;ReadPosRankSum=-0.531;VQSLOD=6.4415;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,10:19:99:222,0,239 19 41211056 41211056 T C exonic COQ8B nonsynonymous SNV COQ8B:NM_001142555:exon6:c.A398G:p.H133R,COQ8B:NM_024876:exon7:c.A521G:p.H174R 0.48 0.34 0.64 0.48 0.49 0.53 0.5085 0.3866 0.6619 0.4731 0.5764 0.4931 0.5227 0.5330 0.45 0.37 0.49 0.47 0.47 rs3865452 COSM148632;COSM148631 1(breast);1(stomach);1(prostate) Benign not_specified RCV000431741.1 MedGen CN169374 . . . . . . 0.647 0.049 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.182 P -2.28 0.001 N -0.71 0.800 T 2.94 0.002 N 0.043 0.023 -0.918 0.459 T 0.000 0.000 T . . . -0.274 0.070 0.761 0.673 0.081 0.481 0.279 N c -0.953 -0.722 0.016 0.128 0.707 0.730 0 2.89 0.326 1.225 0.319 0.016 0.142 1.000 0.715 0.850 0.355 8.279 0.309 . ENSG00000086544.2|ENSG00000086544.2|ENSG00000086544.2|ENSG00000086544.2|ENSG00000123815.7|ENSG00000105245.5|ENSG00000086544.2|ENSG00000086544.2|ENSG00000086544.2|ENSG00000188493.10 Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5111 0.3674 0.6537 0.4302 0.4656 0.5596 0.4899 0.4939 0.5231 0.4715 0.3775 0.6301 0.4238 0.4677 0.5579 0.4955 0.5194 hom 1056.45 35 19 41211056 . T C 1056.45 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.050;DP=35;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=0.545;QD=30.18;ReadPosRankSum=-0.644;VQSLOD=4.3651;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,34:35:55.48:1089,55,0 19 41350664 41350664 A T exonic CYP2A6 nonsynonymous SNV CYP2A6:NM_000762:exon8:c.T1175A:p.F392Y 0.99 0.99 0.98 0.99 0.98 0.98 0.9876 0.9942 0.9895 0.9876 0.9853 0.9870 0.9834 0.9859 . . . 0.97 1. rs1809810 COSM4591653 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9874 0.9942 0.9900 0.9918 0.9879 0.9867 0.9858 0.9792 0.9875 0.9884 0.9952 0.9904 0.9834 0.9911 0.9871 0.9848 0.9826 hom 4274.43 151 19 41350664 . A T 4274.43 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.99;MQ0=6;QD=28.31;VQSLOD=7.3945;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,148:151:99:4273,349,0 19 41356281 41356281 T C exonic CYP2A6 synonymous SNV CYP2A6:NM_000762:exon1:c.A51G:p.V17V 0.76 0.78 0.81 0.79 0.77 0.66 0.7537 0.7755 0.8307 0.7788 0.8392 0.7518 0.7422 0.6471 0.76 0.78 0.75 0.8 0.8 rs1137115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7556 0.7741 0.8170 0.7436 0.7780 0.8428 0.7456 0.7459 0.6453 0.7739 0.7717 0.7969 0.77 0.7606 0.8403 0.7586 0.7907 het 2529.79 174 19 41356281 . T C 2529.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.063;DP=174;Dels=0.00;FS=1.895;HRun=0;HaplotypeScore=2.2301;MQ=58.46;MQ0=0;MQRankSum=0.439;QD=14.54;ReadPosRankSum=0.556;VQSLOD=5.2466;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,92:174:99:2560,0,2064 19 41383153 41383153 A G exonic CYP2A7 nonsynonymous SNV CYP2A7:NM_030589:exon6:c.T950C:p.M317T,CYP2A7:NM_000764:exon7:c.T1103C:p.M368T 0.31 0.17 0.45 0.26 0.35 0.44 0.3278 0.1894 0.4419 0.2725 0.3293 0.3220 0.3300 0.3863 0.29 0.2 0.33 0.32 0.43 rs2261144 COSM3756807;COSM1393909 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.479 0.082 T 0.2 0.280 B 0.29 0.389 B 0.000 0.559 U 1.000 0.186 P 0.67 0.164 N -0.29 0.677 T -2.77 0.629 D 0.127 0.144 -0.996 0.312 T 0.000 0.000 T . . . -1.196 0.025 0.007 0.216 0.008 0.523 0.289 D c -0.922 -0.958 0.002 0.091 0.549 0.223 0 1.19 0.200 3.764 0.547 0.811 0.333 0.262 0.247 0.527 0.275 7.420 0.261 . ENSG00000256612.3 Adipose_Subcutaneous 0.3359 0.1940 0.4341 0.2664 0.2774 0.3389 0.3283 0.3232 0.3821 0.2870 0.1936 0.4046 0.2483 0.2643 0.3397 0.3244 0.3111 het 1301.89 121 19 41383153 . A G 1301.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.840;DP=121;Dels=0.00;FS=0.704;HRun=0;HaplotypeScore=1.6643;MQ=57.32;MQ0=0;MQRankSum=0.976;QD=10.76;ReadPosRankSum=0.488;VQSLOD=4.1396;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,59:121:99:1332,0,1705 19 41383799 41383799 G A exonic CYP2A7 nonsynonymous SNV CYP2A7:NM_030589:exon5:c.C778T:p.R260C,CYP2A7:NM_000764:exon6:c.C931T:p.R311C 0.52 0.43 0.67 0.44 0.52 0.62 0.5226 0.4452 0.7108 0.4544 0.4583 0.4991 0.5033 0.5968 0.49 0.45 0.51 0.56 0.61 rs3869579 COSM3756808;COSM3756809 1(breast);1(large_intestine) . . . . . . . . . . . 0.017 0.555 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 U 0.068 0.370 P 2.96 0.854 M -0.38 0.690 T -7.13 0.945 D 0.19 0.347 -0.887 0.492 T 0.000 0.000 T . . . 4.969 0.668 25.1 0.996 0.748 0.117 0.166 N c -0.204 -0.467 0.090 0.161 0.497 0.185 0 2.18 0.267 0.010 0.130 0.714 0.302 0.000 0.063 0.951 0.427 11.450 0.492 . ENSG00000256612.3|ENSG00000213908.3|ENSG00000268797.1|ENSG00000130612.10|ENSG00000198077.6|ENSG00000255974.2|ENSG00000198077.6 Adipose_Subcutaneous|Liver|Lung|Lung|Lung|Ovary|Ovary 0.5284 0.4515 0.6934 0.4428 0.4603 0.4611 0.5048 0.5077 0.5908 0.4855 0.4520 0.6470 0.4054 0.4601 0.4712 0.5034 0.4927 het 2590.49 211 19 41383799 . G A 2590.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.676;DP=211;Dels=0.00;FS=3.244;HRun=0;HaplotypeScore=0.0000;MQ=49.94;MQ0=9;MQRankSum=2.438;QD=12.28;ReadPosRankSum=0.269;VQSLOD=2.2194;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:107,104:211:99:2620,0,2387 19 41622107 41622107 - C exonic CYP2F1 frameshift insertion CYP2F1:NM_000774:exon2:c.15dupC:p.T6Hfs*20 0.27 0.43 0.19 0.25 0.18 0.24 0.2148 0.3925 0.1354 0.2497 0.2337 0.1893 0.2344 0.2344 0.26 0.39 0.19 . . rs79756737 COSM4603457 1(haematopoietic_and_lymphoid_tissue);5(upper_aerodigestive_tract);1(central_nervous_system) Benign not_specified RCV000454539.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2077 0.3980 0.1374 0.1669 0.2485 0.2430 0.1883 0.1977 0.2265 0.2654 0.4069 0.1683 0.1689 0.2618 0.2282 0.2026 0.2218 het 4200.81 232 19 41622107 . G GC 4200.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.886;DP=232;FS=4.891;HRun=1;HaplotypeScore=585.9002;MQ=59.82;MQ0=0;MQRankSum=2.078;QD=18.11;ReadPosRankSum=0.639;set=variant2 GT:AD:DP:GQ:PL 0/1:123,109:232:99:4201,0,3660 19 41622189 41622189 G A exonic CYP2F1 synonymous SNV CYP2F1:NM_000774:exon2:c.G96A:p.P32P 0.41 0.58 0.5 0.28 0.31 0.38 0.3561 0.5584 0.4802 0.2821 0.3792 0.3089 0.3477 0.3625 0.39 0.54 0.31 0.42 0.35 rs305968 COSM3756815 1(thyroid);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3584 0.5663 0.4712 0.2836 0.2800 0.3967 0.3086 0.3340 0.3572 0.4037 0.5693 0.4499 0.2450 0.2813 0.3891 0.3282 0.3477 het 4391.58 250 19 41622189 . G A 4391.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.578;DP=250;DS;Dels=0.00;FS=0.982;HRun=0;HaplotypeScore=3.1935;MQ=59.49;MQ0=0;MQRankSum=0.248;QD=17.57;ReadPosRankSum=-0.606;VQSLOD=5.9928;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:117,133:250:99:3722,0,3101 19 41700493 41700493 G C exonic CYP2S1 synonymous SNV CYP2S1:NM_030622:exon2:c.G222C:p.P74P 0.88 0.86 0.93 0.79 0.95 0.88 0.9261 0.8732 0.9461 0.7785 0.9445 0.9553 0.9383 0.8965 0.93 0.88 0.96 0.92 0.96 rs338599 COSM4131887 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9275 0.8738 0.9463 0.9059 0.7768 0.9448 0.9591 0.9343 0.8962 0.9232 0.8749 0.9415 0.9007 0.7951 0.9390 0.9601 0.9358 hom 4243.33 125 19 41700493 . G C 4243.33 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9947;MQ=58.92;MQ0=0;QD=33.95;VQSLOD=9.5104;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:4243,337,0 19 41743861 41743861 A G exonic AXL nonsynonymous SNV AXL:NM_001699:exon7:c.A796G:p.N266D,AXL:NM_021913:exon7:c.A796G:p.N266D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.82 rs7249222 COSM4590532;COSM4590533 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3429.90 102 19 41743861 . A G 3429.90 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=59.04;MQ0=0;QD=33.63;VQSLOD=9.9332;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3430,274,0 19 41811730 41811730 T C exonic HNRNPUL1 synonymous SNV HNRNPUL1:NM_001301016:exon14:c.T2145C:p.T715T,HNRNPUL1:NM_001321208:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_001321211:exon14:c.T2112C:p.T704T,HNRNPUL1:NM_007040:exon14:c.T2412C:p.T804T,HNRNPUL1:NM_144732:exon14:c.T2112C:p.T704T 0.99 1. 0.99 1. 0.99 0.98 0.9905 0.9983 0.9931 0.9998 0.9977 0.9902 0.9831 0.9775 0.99 0.99 0.99 1. 0.22 rs12745 COSM4131897;COSM4131896 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.537 P . . . . . . . . . . . -1.086 0.061 T 0.000 0.000 T . . . 0.095 0.103 3.555 0.572 0.056 0.029 0.076 N c -1.392 -1.603 1.000 0.747 0.672 0.522 0 -9.33 0.005 -2.997 0.007 -3.049 0.001 0.001 0.137 0.468 0.265 5.811 0.176 . . . 0.9905 0.9982 0.9920 0.9766 0.9999 0.9991 0.9910 0.9882 0.9768 0.9954 0.9987 0.9952 0.98 1 0.9997 0.9926 0.9907 hom 1460.90 48 19 41811730 . T C 1460.90 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.24;MQ0=0;QD=30.44;VQSLOD=8.2016;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1494,129,0 19 41869392 41869392 T C exonic B9D2 nonsynonymous SNV B9D2:NM_030578:exon2:c.A33G:p.I11M 0.65 0.86 0.55 0.45 0.68 0.62 0.6550 0.8385 0.5219 0.4569 0.7288 0.6766 0.6372 0.6199 0.72 0.83 0.67 0.69 0.67 rs2241714 COSM4998058 2(pancreas) Benign|Benign not_specified|Meckel-Gruber_syndrome RCV000251213.1|RCV000267709.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0265215:ORPHA564:29076005 . . . . . . 0.193 0.209 T 0.001 0.067 B 0.005 0.104 B 0.063 0.221 N 0.000 0.588 P 1.935 0.520 L -0.44 0.698 T -0.56 0.170 N 0.036 0.016 -1.030 0.205 T 0.000 0.000 T . . . 0.725 0.163 8.988 0.871 0.165 0.070 0.129 N c -0.870 -0.870 1.000 0.415 0.628 0.401 0 -1.13 0.092 -0.146 0.101 -0.351 0.070 0.150 0.234 0.738 0.318 5.371 0.153 . ENSG00000268475.1|ENSG00000268475.1|ENSG00000123810.3|ENSG00000077348.4|ENSG00000268475.1|ENSG00000268475.1 Cells_Transformed_fibroblasts|Nerve_Tibial|Testis|Testis|Thyroid|Whole_Blood 0.6437 0.8393 0.5250 0.5418 0.4545 0.7229 0.6815 0.6391 0.6210 0.7115 0.8382 0.5489 0.54 0.4211 0.7160 0.6821 0.6888 hom 2441.30 77 19 41869392 . T C 2441.30 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9159;MQ=59.46;MQ0=0;QD=31.71;VQSLOD=9.7176;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2474,187,0 19 41889748 41889748 T C exonic TMEM91 synonymous SNV TMEM91:NM_001098821:exon4:c.T489C:p.A163A 0.62 0.87 0.48 0.43 0.59 0.6 0.6011 0.8396 0.4648 0.4311 0.6549 0.6093 0.5978 0.5904 0.68 0.83 0.61 0.66 0.61 rs12602 COSM4769908 1(breast);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5954 0.8397 0.4760 0.6159 0.4307 0.6573 0.6094 0.6034 0.5900 0.6593 0.8341 0.4797 0.6225 0.4054 0.6576 0.5994 0.6132 het 302.45 39 19 41889748 . T C 302.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.010;DP=39;Dels=0.00;FS=4.957;HRun=1;HaplotypeScore=3.7813;MQ=60.00;MQ0=0;MQRankSum=0.893;QD=7.76;ReadPosRankSum=-0.688;VQSLOD=4.2170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,14:39:99:332,0,679 19 41903220 41903220 G A exonic EXOSC5 nonsynonymous SNV EXOSC5:NM_020158:exon1:c.C14T:p.T5M 0.61 0.86 0.48 0.43 0.59 0.6 0.5954 0.8262 0.4629 0.4321 0.6531 0.5991 0.5947 0.5903 0.67 0.81 0.6 0.66 0.67 rs10853751 COSM5905091 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.514 0.052 N 1 0.090 P -1.1 0.010 N 1.49 0.327 T 0.63 0.024 N 0.026 0.008 -0.997 0.308 T 0.000 0.000 T . . . 0.690 0.160 8.764 0.737 0.101 0.008 0.033 N c -1.236 -1.190 1.000 0.747 0.442 0.072 0 2.61 0.301 -0.282 0.084 -0.900 0.026 0.000 0.063 0.000 0.016 3.245 0.063 . ENSG00000177191.2|ENSG00000204978.2|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000105341.14|ENSG00000204978.2|ENSG00000177191.2|ENSG00000268475.1|ENSG00000142046.10|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000077348.4|ENSG00000268475.1|ENSG00000177191.2|ENSG00000204978.2|ENSG00000268475.1|ENSG00000077348.4|ENSG00000177191.2|ENSG00000204978.2|ENSG00000268475.1|ENSG00000142046.10|ENSG00000177191.2|ENSG00000268475.1|ENSG00000077348.4|ENSG00000077348.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Stomach|Testis|Thyroid 0.5883 0.8273 0.4724 0.6198 0.4267 0.6553 0.5987 0.5974 0.5883 0.6520 0.8258 0.4773 0.6333 0.4043 0.6565 0.5896 0.6104 het 2574.43 197 19 41903220 . G A 2574.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.223;DP=197;DS;Dels=0.00;FS=8.340;HRun=0;HaplotypeScore=10.2355;MQ=59.14;MQ0=0;MQRankSum=-0.771;QD=13.07;ReadPosRankSum=-1.039;VQSLOD=3.2947;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,97:197:99:2604,0,2501 19 41928652 41928652 C T exonic BCKDHA synonymous SNV BCKDHA:NM_000709:exon7:c.C972T:p.F324F,BCKDHA:NM_001164783:exon7:c.C969T:p.F323F 0.62 0.85 0.49 0.43 0.59 0.6 0.5994 0.8268 0.4705 0.4368 0.6543 0.6043 0.5967 0.5894 0.68 0.81 0.61 0.66 0.61 rs284652 COSM3933055 1(urinary_tract) other|Benign not_specified|Maple_syrup_urine_disease RCV000079266.9|RCV000284317.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0024776:248600:ORPHA268184:27718001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5921 0.8273 0.4784 0.6248 0.4302 0.6570 0.6039 0.6032 0.5880 0.6548 0.8268 0.4809 0.6433 0.4045 0.6574 0.5936 0.6148 het 1066.18 78 19 41928652 . C T 1066.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.994;DP=78;Dels=0.00;FS=10.720;HRun=2;HaplotypeScore=4.4531;MQ=60.00;MQ0=0;MQRankSum=-1.098;QD=13.67;ReadPosRankSum=0.286;VQSLOD=4.1070;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,42:78:99:1096,0,1035 19 41930396 41930396 A G exonic BCKDHA synonymous SNV BCKDHA:NM_000709:exon9:c.A1221G:p.L407L,BCKDHA:NM_001164783:exon9:c.A1218G:p.L406L 0.62 0.85 0.49 0.43 0.59 0.6 0.6000 0.8272 0.4707 0.4411 0.6540 0.6046 0.5991 0.5899 0.68 0.81 0.61 0.66 0.64 rs4674 . . other|Benign not_specified|Maple_syrup_urine_disease RCV000079224.8|RCV000394945.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0024776:248600:ORPHA268184:27718001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5928 0.8281 0.4789 0.6251 0.4340 0.6564 0.6045 0.6038 0.5889 0.6565 0.8275 0.4820 0.6391 0.4088 0.6575 0.5960 0.6132 het 2022.71 172 19 41930396 . A G 2022.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.426;DP=172;Dels=0.00;FS=4.651;HRun=0;HaplotypeScore=3.0731;MQ=58.78;MQ0=0;MQRankSum=1.140;QD=11.76;ReadPosRankSum=-1.519;VQSLOD=5.2107;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:93,78:172:99:2053,0,2200 19 41932084 41932084 G T exonic B3GNT8 synonymous SNV B3GNT8:NM_198540:exon3:c.C600A:p.A200A 0.49 0.41 0.45 0.43 0.59 0.6 0.5630 0.4473 0.4423 0.4365 0.6431 0.6041 0.5774 0.5876 0.55 0.44 0.61 0.16 0.66 rs284660 COSM3756817 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5624 0.4456 0.4508 0.6135 0.4302 0.6452 0.6039 0.5834 0.5859 0.5475 0.4589 0.4499 0.6267 0.4059 0.6509 0.5913 0.5908 het 709.69 73 19 41932084 . G T 709.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.277;DP=73;Dels=0.00;FS=11.093;HRun=0;HaplotypeScore=2.6576;MQ=58.70;MQ0=0;MQRankSum=-0.297;QD=9.72;ReadPosRankSum=0.331;VQSLOD=3.9903;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,30:73:99:740,0,1252 19 41932120 41932120 C T exonic B3GNT8 synonymous SNV B3GNT8:NM_198540:exon3:c.G564A:p.V188V 0.49 0.41 0.45 0.43 0.59 0.6 0.5649 0.4493 0.4490 0.4371 0.6545 0.6049 0.5831 0.5873 0.55 0.44 0.61 0.22 0.66 rs284661 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5647 0.4456 0.4572 0.6136 0.4303 0.6571 0.6048 0.5845 0.5859 0.5470 0.4495 0.4523 0.6225 0.4063 0.6587 0.5931 0.6025 het 1441.85 107 19 41932120 . C T 1441.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.190;DP=107;Dels=0.00;FS=0.836;HRun=0;HaplotypeScore=3.3977;MQ=59.55;MQ0=0;MQRankSum=-0.215;QD=13.48;ReadPosRankSum=-0.732;VQSLOD=6.3281;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,53:107:99:1472,0,1574 19 41932275 41932275 T C exonic B3GNT8 nonsynonymous SNV B3GNT8:NM_198540:exon3:c.A409G:p.S137G 0.62 0.86 0.49 0.43 0.6 0.6 0.6066 0.8371 0.4758 0.4376 0.6546 0.6145 0.5971 0.5938 0.69 0.82 0.62 0.24 0.67 rs284662 . . . . . . . . . . . . . 0.473 0.084 T 0.0 0.026 B 0.0 0.013 B 0.325 0.142 N 1 0.090 P 0.28 0.100 N 1.32 0.352 T -0.01 0.072 N 0.026 0.008 -1.069 0.096 T 0.000 0.000 T . . . -0.972 0.033 0.018 0.715 0.093 0.016 0.052 N c -1.158 -1.127 1.000 0.473 0.646 0.450 0 0.562 0.164 -0.206 0.093 -0.302 0.080 0.005 0.169 0.075 0.178 4.018 0.091 . ENSG00000204978.2|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000105341.14|ENSG00000204978.2|ENSG00000177191.2|ENSG00000268475.1|ENSG00000142046.10|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000077348.4|ENSG00000268475.1|ENSG00000177191.2|ENSG00000204978.2|ENSG00000268475.1|ENSG00000077348.4|ENSG00000177191.2|ENSG00000204978.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000268475.1|ENSG00000077348.4|ENSG00000177191.2|ENSG00000077348.4|ENSG00000268475.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid 0.5989 0.8373 0.4850 0.6289 0.4313 0.6583 0.6138 0.6119 0.5917 0.6601 0.8335 0.4868 0.6424 0.4063 0.6596 0.5994 0.6181 het 1375.28 109 19 41932275 . T C 1375.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.485;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9454;MQ=59.79;MQ0=0;MQRankSum=0.544;QD=12.62;ReadPosRankSum=-0.313;VQSLOD=6.5967;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,59:109:99:1405,0,1216 19 41932612 41932612 C T exonic B3GNT8 synonymous SNV B3GNT8:NM_198540:exon3:c.G72A:p.E24E 0.62 0.86 0.49 0.43 0.59 0.6 0.6022 0.8344 0.4690 0.4324 0.6559 0.6093 0.5989 0.5905 0.68 0.82 0.61 0.65 0.64 rs284663 COSM3933057 1(breast);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5939 0.8344 0.4786 0.6257 0.4261 0.6573 0.6079 0.6064 0.5886 0.6569 0.8322 0.4845 0.6367 0.3970 0.6590 0.5953 0.6119 het 751.86 52 19 41932612 . C T 751.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.588;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-1.569;QD=14.46;ReadPosRankSum=0.119;VQSLOD=6.2155;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,28:52:99:782,0,624 19 41939297 41939297 C G exonic ATP5SL nonsynonymous SNV ATP5SL:NM_001167871:exon4:c.G395C:p.C132S,ATP5SL:NM_001320839:exon4:c.G413C:p.C138S,ATP5SL:NM_001320840:exon4:c.G413C:p.C138S,ATP5SL:NM_001320844:exon4:c.G395C:p.C132S,ATP5SL:NM_001167867:exon5:c.G494C:p.C165S,ATP5SL:NM_018035:exon5:c.G476C:p.C159S 0.51 0.59 0.55 0.57 0.41 0.39 0.4368 0.5592 0.5503 0.5677 0.3465 0.3977 0.42 0.4061 0.45 0.56 0.39 0.54 0.22 rs1043413 COSM4000747 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.141 0.255 T 0.0 0.067 B 0.0 0.040 B 0.000 0.559 N 1.000 0.588 P 0.345 0.112 N 1.64 0.278 T 0.73 0.021 N 0.033 0.013 -0.960 0.391 T 0.000 0.000 T . . . 1.066 0.196 11.03 0.859 0.157 0.049 0.105 N c -0.745 -0.568 1.000 0.747 0.707 0.730 0 3.39 0.378 3.035 0.492 0.073 0.181 1.000 0.715 0.058 0.169 7.807 0.282 Leucine-rich repeat domain\x2c L domain-like ENSG00000204978.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000177191.2|ENSG00000077348.4|ENSG00000204978.2|ENSG00000177191.2|ENSG00000268475.1|ENSG00000142046.10|ENSG00000177191.2|ENSG00000268475.1|ENSG00000268475.1|ENSG00000177191.2|ENSG00000077348.4|ENSG00000268475.1|ENSG00000177191.2|ENSG00000204978.2|ENSG00000268475.1|ENSG00000077348.4|ENSG00000177191.2|ENSG00000204978.2|ENSG00000268475.1|ENSG00000268475.1|ENSG00000177191.2|ENSG00000268475.1|ENSG00000077348.4|ENSG00000077348.4|ENSG00000105341.14 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Stomach|Stomach|Testis|Thyroid|Whole_Blood 0.4346 0.5565 0.5421 0.3870 0.5708 0.3435 0.3950 0.4145 0.4071 0.4499 0.5419 0.5477 0.3775 0.5939 0.3411 0.4051 0.4061 het 1626.15 106 19 41939297 . C G 1626.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.619;DP=106;Dels=0.00;FS=13.165;HRun=2;HaplotypeScore=3.3982;MQ=60.00;MQ0=0;MQRankSum=-1.221;QD=15.34;ReadPosRankSum=1.123;VQSLOD=3.2492;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,57:106:99:1656,0,1454 19 41944237 41944237 T C exonic ATP5SL nonsynonymous SNV ATP5SL:NM_001167867:exon2:c.A119G:p.N40S,ATP5SL:NM_001167868:exon2:c.A119G:p.N40S,ATP5SL:NM_001167869:exon2:c.A101G:p.N34S,ATP5SL:NM_001167870:exon2:c.A101G:p.N34S,ATP5SL:NM_001167871:exon2:c.A101G:p.N34S,ATP5SL:NM_001320838:exon2:c.A101G:p.N34S,ATP5SL:NM_001320839:exon2:c.A119G:p.N40S,ATP5SL:NM_001320840:exon2:c.A119G:p.N40S,ATP5SL:NM_001320841:exon2:c.A119G:p.N40S,ATP5SL:NM_001320844:exon2:c.A101G:p.N34S,ATP5SL:NM_018035:exon2:c.A101G:p.N34S 0.39 0.16 0.51 0.56 0.41 0.39 0.4053 0.1995 0.5341 0.5626 0.3463 0.4008 0.4073 0.4040 0.34 0.22 0.4 0.37 0.32 rs2231940 COSM148638 1(stomach);3(prostate);3(large_intestine) . . . . . . . . . . . 0.552 0.079 T 0.018 0.165 B 0.016 0.166 B 0.301 0.040 N 1 0.090 P 0.51 0.135 N 1.86 0.296 T -1.35 0.364 N 0.001 0.000 -0.960 0.392 T 0.000 0.000 T . . . -2.693 0.002 0.001 0.417 0.030 0.010 0.039 N c -2.056 -2.125 1.000 0.747 0.713 0.817 0 -6.19 0.019 -6.601 0.001 -0.873 0.028 0.000 0.063 0.039 0.156 8.229 0.306 . ENSG00000204978.2|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000204978.2|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000268475.1|ENSG00000177191.2|ENSG00000077348.4|ENSG00000268475.1|ENSG00000177191.2|ENSG00000204978.2|ENSG00000268475.1|ENSG00000077348.4|ENSG00000177191.2|ENSG00000204978.2|ENSG00000268475.1|ENSG00000268475.1|ENSG00000177191.2|ENSG00000177191.2|ENSG00000268475.1|ENSG00000077348.4|ENSG00000077348.4 Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid 0.4121 0.1981 0.5237 0.4283 0.5670 0.3431 0.3985 0.4015 0.4058 0.3551 0.2018 0.5179 0.4106 0.5952 0.3420 0.4092 0.3870 het 2239.95 140 19 41944237 . T C 2239.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.962;DP=140;Dels=0.00;FS=2.702;HRun=0;HaplotypeScore=1.6316;MQ=59.84;MQ0=0;MQRankSum=-0.759;QD=16.00;ReadPosRankSum=-0.294;VQSLOD=6.3180;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,82:140:99:2270,0,1494 19 42083849 42083849 C A exonic CEACAM21 nonsynonymous SNV CEACAM21:NM_001098506:exon2:c.C362A:p.T121N,CEACAM21:NM_033543:exon2:c.C362A:p.T121N 0.52 0.098 0.75 0.58 0.73 0.67 0.6806 0.1933 0.8313 0.5796 0.6638 0.7363 0.7075 0.6991 0.56 0.22 0.73 0.47 . rs714106 COSM5000699;COSM5000698 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6910 0.1854 0.8211 0.6712 0.5779 0.6713 0.7425 0.6960 0.6991 0.5653 0.2032 0.8010 0.6126 0.5888 0.6620 0.7268 0.7127 het 2014.60 167 19 42083849 . C A 2014.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.819;DP=167;Dels=0.00;FS=2.714;HRun=1;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=0.552;QD=12.06;ReadPosRankSum=-0.383;VQSLOD=6.5306;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,82:167:99:2045,0,2374 19 42085873 42085873 A G exonic CEACAM21 nonsynonymous SNV CEACAM21:NM_001098506:exon3:c.A592G:p.M198V,CEACAM21:NM_001290113:exon3:c.A208G:p.M70V,CEACAM21:NM_033543:exon3:c.A592G:p.M198V,CEACAM21:NM_001288773:exon4:c.A208G:p.M70V 0.6 0.35 0.78 0.6 0.73 0.67 0.7142 0.4332 0.8499 0.6086 0.6792 0.7495 0.7348 0.7062 0.65 0.45 0.75 0.61 . rs2302188 COSM5001170;COSM5001169 1(pancreas);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7157 0.4161 0.8376 0.7147 0.5986 0.6804 0.7492 0.7193 0.7009 0.6339 0.4214 0.8385 0.6490 0.6149 0.6716 0.7324 0.7305 het 609.86 39 19 42085873 . A G 609.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.296;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=0.296;QD=15.64;ReadPosRankSum=2.268;VQSLOD=6.1330;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,21:39:99:640,0,453 19 42132314 42132314 G C exonic CEACAM4 nonsynonymous SNV CEACAM4:NM_001817:exon2:c.C85G:p.H29D 0.61 0.46 0.47 0.89 0.54 0.69 0.5511 0.4733 0.3905 0.9110 0.6432 0.5127 0.5471 0.6440 0.5 0.47 0.51 0.66 0.43 rs1126454 COSM3756821 1(large_intestine) . . . . . . . . . . . 0.174 0.225 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N 5.28 0.012 T 0.31 0.040 N 0.074 0.064 -1.097 0.045 T 0.000 0.000 T . . . -0.698 0.045 0.073 0.705 0.090 0.001 0.008 N c -1.474 -1.505 1.000 0.404 0.487 0.133 0 0.701 0.172 -0.257 0.087 -1.702 0.008 0.016 0.191 0.019 0.132 2.368 0.040 . . . 0.5493 0.4728 0.4128 0.4158 0.9119 0.6388 0.5168 0.5006 0.6335 0.5395 0.4644 0.4508 0.4272 0.9204 0.6344 0.5249 0.5647 het 1685.23 160 19 42132314 . G C 1685.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.818;DP=160;Dels=0.00;FS=1.305;HRun=2;HaplotypeScore=9.9893;MQ=57.79;MQ0=0;MQRankSum=-0.458;QD=10.53;ReadPosRankSum=-1.041;VQSLOD=2.6155;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,72:160:99:1715,0,2263 19 42190859 42190859 A T exonic CEACAM7 nonsynonymous SNV CEACAM7:NM_001291485:exon2:c.T358A:p.F120I,CEACAM7:NM_006890:exon2:c.T358A:p.F120I 0.59 0.84 0.51 0.51 0.45 0.55 0.5122 0.7921 0.5212 0.4831 0.4994 0.4624 0.4487 0.5626 0.57 0.78 0.46 0.65 0.48 rs8102488 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5003 0.7922 0.5166 0.4375 0.4776 0.5005 0.4574 0.4639 0.5246 0.5587 0.7841 0.4821 0.4470 0.4672 0.5060 0.4610 0.4888 het 2403.05 203 19 42190859 . A T 2403.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.237;DP=203;Dels=0.00;FS=4.060;HRun=1;HaplotypeScore=3.4629;MQ=59.37;MQ0=0;MQRankSum=-0.900;QD=11.84;ReadPosRankSum=-0.810;VQSLOD=5.4427;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:111,92:203:99:2433,0,3036 19 42221607 42221607 A G exonic CEACAM5 nonsynonymous SNV CEACAM5:NM_001291484:exon5:c.A1192G:p.K398E,CEACAM5:NM_001308398:exon5:c.A1189G:p.K397E,CEACAM5:NM_004363:exon5:c.A1192G:p.K398E 0.9 1. 0.89 0.83 0.8 0.94 0.8467 0.9715 0.9029 0.8244 0.8190 0.8043 0.8139 0.9250 0.86 0.97 0.81 0.94 0.74 rs7249230 COSM4131911 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8454 0.9718 0.9053 0.7775 0.8109 0.8158 0.8064 0.8157 0.9264 0.8525 0.9677 0.8864 0.7682 0.7993 0.8088 0.8032 0.8204 het 2694.31 240 19 42221607 . A G 2694.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.891;DP=240;DS;Dels=0.00;FS=3.687;HRun=0;HaplotypeScore=7.1907;MQ=59.29;MQ0=0;MQRankSum=-0.087;QD=11.23;ReadPosRankSum=-0.359;VQSLOD=4.7645;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,111:240:99:2724,0,3791 19 42265889 42265889 G T exonic CEACAM6 nonsynonymous SNV CEACAM6:NM_002483:exon4:c.G716T:p.G239V 0.55 0.75 0.54 0.56 0.41 0.42 0.4574 0.7015 0.5277 0.5861 0.4649 0.4075 0.4064 0.3885 0.5 0.68 0.41 0.47 0.49 rs11548735 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4584 0.7105 0.5277 0.3912 0.5841 0.4616 0.4110 0.4166 0.3854 0.5121 0.6989 0.5096 0.3974 0.5980 0.4610 0.4143 0.4300 het 1530.50 138 19 42265889 . G T 1530.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.956;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6895;MQ=59.55;MQ0=0;MQRankSum=0.377;QD=11.09;ReadPosRankSum=0.504;VQSLOD=5.4995;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,66:138:99:1560,0,1767 19 42489516 42489516 A C exonic ATP1A3 synonymous SNV ATP1A3:NM_001256213:exon7:c.T699G:p.T233T,ATP1A3:NM_001256214:exon7:c.T705G:p.T235T,ATP1A3:NM_152296:exon7:c.T666G:p.T222T 0.9 1. 0.89 0.88 0.91 0.8 0.8894 0.9834 0.8501 0.8740 0.9391 0.8977 0.8877 0.8125 0.93 0.98 0.9 0.92 0.93 rs2217342 COSM4131915 2(thyroid) Likely benign|Benign|Benign not_specified|Alternating_hemiplegia_of_childhood|Dystonia_12 RCV000145249.1|RCV000285864.1|RCV000322134.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet CN169374|C0338488:ORPHA2131:230466004|C1868681:128235:ORPHA71517 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8891 0.9852 0.8572 0.8653 0.8698 0.9374 0.9014 0.8904 0.8144 0.9312 0.9809 0.8556 0.8377 0.8707 0.9490 0.9122 0.9102 hom 3805.57 124 19 42489516 . A C 3805.57 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7041;MQ=59.33;MQ0=0;QD=30.69;VQSLOD=8.7530;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3805,313,0 19 42703833 42703833 A G exonic DEDD2 synonymous SNV DEDD2:NM_001270614:exon5:c.T738C:p.S246S,DEDD2:NM_001270615:exon5:c.T723C:p.S241S,DEDD2:NM_133328:exon5:c.T738C:p.S246S 0.13 0.16 0.11 0.087 0.093 0.18 0.1238 0.1644 0.1613 0.0908 0.0522 0.1058 0.1227 0.1895 0.12 0.16 0.1 0.12 0.049 rs2303652 COSM3756827 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1199 0.1638 0.1524 0.1000 0.0932 0.0534 0.1048 0.1144 0.1874 0.1105 0.1634 0.1607 0.1225 0.0974 0.0470 0.0944 0.0878 het 869.13 74 19 42703833 . A G 869.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.546;DP=74;Dels=0.00;FS=2.032;HRun=1;HaplotypeScore=1.9819;MQ=59.69;MQ0=0;MQRankSum=0.028;QD=11.74;ReadPosRankSum=-0.792;VQSLOD=6.6756;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,33:74:99:899,0,1063 19 42728836 42728836 T C exonic ZNF526 nonsynonymous SNV ZNF526:NM_001314033:exon3:c.T281C:p.V94A,ZNF526:NM_133444:exon3:c.T281C:p.V94A 0.087 0.0068 0.11 0.086 0.09 0.18 0.1094 0.0194 0.1544 0.0900 0.0510 0.1036 0.1117 0.1913 0.072 0.018 0.1 0.054 0.049 rs3810151 COSM4000755 2(haematopoietic_and_lymphoid_tissue);1(thyroid) Likely benign not_specified RCV000118953.2 MedGen CN169374 . . . . . . 0.762 0.035 T 0.0 0.026 B 0.0 0.013 B 0.654 0.105 N 1 0.090 P -1.39 0.006 N 3.06 0.087 T 0.17 0.051 N 0.002 0.000 -0.920 0.456 T 0.000 0.001 T . . . -1.683 0.013 0.002 0.299 0.016 0.066 0.125 N c -1.250 -1.200 0.817 0.244 0.719 0.830 0 1.66 0.230 -0.367 0.075 -1.719 0.007 0.000 0.063 0.031 0.148 5.876 0.180 . ENSG00000105737.5 Testis 0.1093 0.0177 0.1454 0.1002 0.0935 0.0529 0.1036 0.107 0.1886 0.0692 0.0212 0.1459 0.1225 0.0957 0.0464 0.0934 0.0820 het 1518.69 109 19 42728836 . T C 1518.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.644;DP=109;Dels=0.00;FS=9.560;HRun=0;HaplotypeScore=3.7641;MQ=59.31;MQ0=0;MQRankSum=0.567;QD=13.93;ReadPosRankSum=0.058;VQSLOD=4.1109;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,52:109:99:1549,0,1561 19 42736267 42736267 A G exonic GSK3A synonymous SNV GSK3A:NM_019884:exon10:c.T1320C:p.L440L 1. 1. 1. 1. 1. 1. 0.9997 1 1 0.9997 1 0.9995 0.9989 0.9998 1. 1. 1. 0.99 1. rs851609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9999 0.9999 1 0.9997 1 0.9994 0.9998 0.9998 0.9994 1 0.9988 1 0.9994 1 0.9988 1 hom 912.02 29 19 42736267 . A G 912.02 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.45;VQSLOD=13.4941;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:72.23:945,72,0 19 42753034 42753034 A G exonic ERF synonymous SNV ERF:NM_001301035:exon4:c.T1005C:p.A335A,ERF:NM_001308402:exon4:c.T1005C:p.A335A,ERF:NM_001312656:exon4:c.T1005C:p.A335A,ERF:NM_006494:exon4:c.T1230C:p.A410A 0.1 0.11 0.095 0.055 0.071 0.17 0.0979 0.1229 0.1531 0.0556 0.0391 0.0740 0.0976 0.1827 0.081 0.11 0.069 0.065 0.0082 rs35493131 COSM3756829 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0975 0.1178 0.1405 0.0857 0.0625 0.0413 0.0740 0.0918 0.1791 0.0798 0.1159 0.1502 0.1141 0.0573 0.0381 0.0669 0.0707 het 1158.19 85 19 42753034 . A G 1158.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.068;DP=85;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.8673;MQ=59.73;MQ0=0;MQRankSum=0.785;QD=13.63;ReadPosRankSum=0.133;VQSLOD=3.8026;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:39,46:85:99:1188,0,733 19 42753283 42753283 G A exonic ERF synonymous SNV ERF:NM_001301035:exon4:c.C756T:p.S252S,ERF:NM_001308402:exon4:c.C756T:p.S252S,ERF:NM_001312656:exon4:c.C756T:p.S252S,ERF:NM_006494:exon4:c.C981T:p.S327S 0.078 0.0045 0.082 0.084 0.065 0.18 0.0878 0.0143 0.1414 0.0728 0.0388 0.0707 0.0870 0.1883 0.051 0.013 0.07 0.033 0.025 rs61735151 COSM3756830 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0884 0.0123 0.1306 0.0846 0.0782 0.0402 0.0708 0.0842 0.1858 0.0491 0.0131 0.1307 0.1126 0.0698 0.0378 0.0637 0.0625 het 733.66 70 19 42753283 . G A 733.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.836;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7977;MQ=59.34;MQ0=0;MQRankSum=0.365;QD=10.48;ReadPosRankSum=0.777;VQSLOD=6.2366;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:764,0,960 19 42753649 42753649 G C exonic ERF synonymous SNV ERF:NM_001301035:exon4:c.C390G:p.R130R,ERF:NM_001308402:exon4:c.C390G:p.R130R,ERF:NM_001312656:exon4:c.C390G:p.R130R,ERF:NM_006494:exon4:c.C615G:p.R205R 0.086 0.045 0.092 0.056 0.072 0.18 0.0959 0.0548 0.1469 0.0561 0.0423 0.0794 0.0944 0.1882 0.063 0.046 0.071 0.076 0.016 rs11557114 COSM3756831 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0928 0.0474 0.1349 0.0893 0.0621 0.0424 0.0769 0.0905 0.1784 0.0624 0.0507 0.1337 0.1126 0.0569 0.0378 0.0703 0.0653 het 512.64 47 19 42753649 . G C 512.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.543;DP=47;Dels=0.00;FS=1.366;HRun=1;HaplotypeScore=3.9831;MQ=58.67;MQ0=0;MQRankSum=1.588;QD=10.91;ReadPosRankSum=1.081;VQSLOD=4.9370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,21:47:99:543,0,632 19 42799049 42799049 C T exonic CIC synonymous SNV CIC:NM_015125:exon20:c.C4533T:p.I1511I,CIC:NM_001304815:exon21:c.C7260T:p.I2420I 0.12 0.011 0.19 . 0.39 0.059 0.2587 0.0649 0.1458 0.0006 0.3854 0.3725 0.2629 0.0820 0.28 0.077 0.38 0.11 0.3 rs1052023 COSM3756833 1(haematopoietic_and_lymphoid_tissue);13(soft_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2573 0.0611 0.1624 0.2624 0.0006 0.3883 0.3822 0.2881 0.0837 0.2638 0.0669 0.1875 0.2351 0.0019 0.4002 0.3759 0.3302 het 1029.52 86 19 42799049 . C T 1029.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.400;DP=86;Dels=0.00;FS=3.076;HRun=1;HaplotypeScore=2.4875;MQ=60.00;MQ0=0;MQRankSum=0.868;QD=11.97;ReadPosRankSum=2.467;VQSLOD=5.2224;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,42:86:99:1060,0,1244 19 43013363 43013363 A G exonic CEACAM1 synonymous SNV CEACAM1:NM_001184813:exon8:c.T1191C:p.Y397Y,CEACAM1:NM_001184815:exon9:c.T1284C:p.Y428Y,CEACAM1:NM_001712:exon9:c.T1479C:p.Y493Y 0.16 0.13 0.26 0.21 0.096 0.14 0.1378 0.1150 0.2898 0.2222 0.0844 0.0972 0.1290 0.1914 0.098 0.11 0.094 0.11 0.057 rs11666350 COSM3756844;COSM3756843 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1418 0.1141 0.2808 0.1578 0.2296 0.0783 0.0930 0.1332 0.1731 0.1105 0.1192 0.2530 0.1755 0.2060 0.0816 0.0920 0.1191 het 884.90 82 19 43013363 . A G 884.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.649;DP=82;Dels=0.00;FS=5.755;HRun=0;HaplotypeScore=2.9874;MQ=58.59;MQ0=0;MQRankSum=1.481;QD=10.79;ReadPosRankSum=1.883;VQSLOD=4.5908;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,36:82:99:915,0,1145 19 43087484 43087484 A C exonic CEACAM8 nonsynonymous SNV CEACAM8:NM_001816:exon5:c.T964G:p.L322V 0.14 0.14 0.25 0.095 0.093 0.18 0.1328 0.1275 0.2948 0.1082 0.0785 0.0949 0.1256 0.2106 0.1 0.12 0.092 0.076 0.057 rs1126458 COSM3756845 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.015 0.158 B 0.018 0.173 B . . . 1 0.090 P 0.55 0.145 N 2.16 0.192 T -0.11 0.087 N 0.022 0.005 -0.956 0.400 T 0.000 0.000 T . . . -2.673 0.002 0.001 0.047 0.000 0.015 0.050 N c -1.495 -1.579 0.000 0.041 0.487 0.133 0 -2.43 0.061 -0.973 0.039 0.565 0.284 0.000 0.063 0.022 0.137 5.532 0.162 . . . 0.1382 0.1262 0.2841 0.1605 0.1173 0.0731 0.0904 0.1344 0.2112 0.1083 0.1312 0.2601 0.1788 0.1054 0.0790 0.0914 0.1202 het 1360.71 95 19 43087484 . A C 1360.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.428;DP=95;Dels=0.00;FS=1.291;HRun=0;HaplotypeScore=1.6517;MQ=59.27;MQ0=0;MQRankSum=-0.056;QD=14.32;ReadPosRankSum=-0.145;VQSLOD=6.4969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,47:95:99:1391,0,1419 19 43269705 43269705 G A exonic PSG8 nonsynonymous SNV PSG8:NM_001130167:exon1:c.C29T:p.T10I,PSG8:NM_001130168:exon1:c.C29T:p.T10I,PSG8:NM_182707:exon1:c.C29T:p.T10I 0.36 0.73 0.27 0.091 0.31 0.23 0.2997 0.6584 0.2634 0.0852 0.3190 0.2958 0.2826 0.2208 0.35 0.57 0.23 . 0.33 rs7245423 COSM3756864;COSM3756865 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.079 0.337 T 0.987 0.600 D 0.81 0.568 P . . . 1 0.090 P 0.895 0.225 L 2.18 0.257 T -2.24 0.501 N 0.089 0.086 -0.919 0.458 T 0.000 0.000 T . . . -1.755 0.012 0.002 0.943 0.240 0.001 0.008 N c -1.100 -1.405 0.000 0.050 0.428 0.059 0 -2.7 0.056 -0.785 0.047 -3.194 0.001 0.000 0.063 0.000 0.016 1.468 0.022 . . . 0.2887 0.6664 0.2581 0.2825 0.0854 0.3122 0.2944 0.2934 0.2125 0.3885 0.6524 0.2768 0.2517 0.0766 0.3281 0.2971 0.3200 het 2400.60 226 19 43269705 . G A 2400.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.663;DP=226;Dels=0.00;FS=3.844;HRun=0;HaplotypeScore=2.6631;MQ=56.39;MQ0=0;MQRankSum=-0.923;QD=10.62;ReadPosRankSum=-0.121;VQSLOD=2.4446;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,101:226:99:2431,0,3394 19 43420451 43420451 G C exonic PSG6 nonsynonymous SNV PSG6:NM_001031850:exon2:c.C253G:p.H85D,PSG6:NM_002782:exon2:c.C253G:p.H85D 0.45 0.6 0.43 0.43 0.25 0.5 0.3467 0.5784 0.4036 0.4350 0.2576 0.2688 0.3139 0.4671 0.37 0.58 0.26 0.33 0.39 rs3198831 COSM3756896;COSM3756895 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.44 0.001 N -0.06 0.636 T 3.05 0.001 N 0.076 0.067 -0.984 0.341 T 0.000 0.000 T . . . -2.448 0.004 0.001 0.314 0.018 0.001 0.005 N c -2.153 -2.116 0.001 0.086 0.487 0.133 0 -4.23 0.035 -2.006 0.015 -1.150 0.017 0.000 0.063 0.000 0.016 5.357 0.153 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.3421 0.5814 0.3950 0.3639 0.4399 0.2613 0.2608 0.3111 0.4630 0.3601 0.5724 0.3663 0.3733 0.4284 0.2656 0.2546 0.3119 hom 8904.73 250 19 43420451 . G C 8904.73 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1696;MQ=58.36;MQ0=0;QD=35.62;VQSLOD=5.0794;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8904,716,0 19 43433805 43433805 A G exonic PSG7 synonymous SNV PSG7:NM_001206650:exon2:c.T132C:p.I44I 0.45 0.57 0.43 0.42 0.27 0.5 0.3621 0.5603 0.4104 0.4310 0.3170 0.2951 0.3344 0.4583 0.38 0.56 0.28 0.34 . rs1065178 COSN19369048;COSN23012660;COSN8992656 1(thyroid);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3576 0.5625 0.4019 0.3691 0.4359 0.3214 0.2850 0.3328 0.4541 0.3785 0.5510 0.3777 0.3867 0.4243 0.3258 0.2885 0.3381 hom 8648.88 250 19 43433805 . A G 8648.88 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2695;MQ=57.97;MQ0=0;QD=34.60;VQSLOD=7.0673;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8648,695,0 19 43439694 43439694 A G exonic PSG7 unknown UNKNOWN 0.14 0.19 0.23 0.011 0.15 0.13 0.1548 0.2078 0.2288 0.0043 0.1178 0.1615 0.1333 0.1377 0.18 0.22 0.16 0.087 . rs113247044 COSN8992658 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1550 0.2069 0.2196 0.1538 0.0030 0.1213 0.1635 0.1537 0.1381 0.1636 0.1998 0.1923 0.1755 0.0013 0.1279 0.1674 0.1523 het 4520.35 250 19 43439694 . A G 4520.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DP=250;DS;Dels=0.00;FS=6.422;HRun=0;HaplotypeScore=1.6598;MQ=57.35;MQ0=1;MQRankSum=-0.598;QD=18.08;ReadPosRankSum=0.678;VQSLOD=2.5637;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:110,140:250:99:3836,0,2987 19 43519442 43519442 T C exonic PSG11 nonsynonymous SNV PSG11:NM_001113410:exon3:c.A424G:p.N142D,PSG11:NM_203287:exon3:c.A424G:p.N142D,PSG11:NM_002785:exon4:c.A790G:p.N264D 0.86 0.98 0.76 1. 0.68 0.79 0.7500 0.9448 0.7592 0.9992 0.7055 0.6870 0.7026 0.7658 0.76 0.93 0.68 0.86 . rs10414166 COSM4131973 1(thyroid) . . . . . . . . . . . 1.0 0.043 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -1.4 0.006 N 2.82 0.109 T 1.83 0.009 N 0.008 0.002 -1.006 0.280 T 0.000 0.000 T . . . -2.075 0.007 0.001 0.387 0.026 0.000 0.001 N c -1.940 -1.977 0.000 0.060 0.487 0.133 0 -2.28 0.064 -0.006 0.127 -0.355 0.069 0.001 0.137 0.001 0.043 5.609 0.166 Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000243137.3|ENSG00000243137.3|ENSG00000243137.3|ENSG00000243137.3 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.7437 0.9469 0.7540 0.7159 0.9994 0.7063 0.6790 0.7077 0.7660 0.7856 0.9414 0.7614 0.7616 0.9988 0.7017 0.6961 0.7469 het 4116.92 243 19 43519442 . T C 4116.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.831;DP=243;DS;Dels=0.00;FS=2.189;HRun=0;HaplotypeScore=3.3215;MQ=59.19;MQ0=0;MQRankSum=1.202;QD=16.94;ReadPosRankSum=-1.158;VQSLOD=5.3574;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:120,123:243:99:3472,0,3375 19 43579642 43579642 A G exonic PSG2 synonymous SNV PSG2:NM_031246:exon3:c.T573C:p.H191H 0.26 0.55 0.17 0.066 0.17 0.24 0.2141 0.4752 0.1652 0.0498 0.2059 0.1992 0.1982 0.2346 0.29 0.47 0.19 0.34 0.23 rs1803670 COSM3756897 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2046 0.4729 0.1705 0.1665 0.0504 0.2016 0.1973 0.2009 0.2367 0.2657 0.4651 0.1839 0.1623 0.0415 0.1979 0.2011 0.2265 het 4153.56 249 19 43579642 . A G 4153.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.452;DP=249;DS;Dels=0.00;FS=2.829;HRun=0;HaplotypeScore=7.4600;MQ=57.85;MQ0=0;MQRankSum=-0.079;QD=16.61;ReadPosRankSum=-1.113;VQSLOD=2.9713;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:127,122:249:99:3472,0,3479 19 43857873 43857873 G C exonic CD177 unknown UNKNOWN 0.46 0.31 0.47 0.72 0.35 0.49 0.4025 0.3149 0.5272 0.6935 0.3148 0.3542 0.3742 0.4469 0.33 0.3 0.34 0.32 . rs45441892 COSM3773880;COSM3773881 1(kidney) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.495 0.001 N . . . . . . 0.021 0.005 -0.971 0.371 T 0.000 0.000 T . . . -1.593 0.015 0.002 0.101 0.001 0.000 0.004 N c -2.070 -2.018 0.086 0.160 0.652 0.477 0 -3.7 0.041 -1.525 0.023 -1.142 0.017 0.000 0.063 0.003 0.074 4.753 0.124 . ENSG00000231412.2|ENSG00000204936.5|ENSG00000231412.2|ENSG00000272396.1 Lung|Whole_Blood|Whole_Blood|Whole_Blood 0.4077 0.3127 0.5213 0.3986 0.6973 0.3068 0.3527 0.4040 0.4445 0.3653 0.3292 0.5215 0.47 0.6832 0.3070 0.3536 0.3814 het 1259.61 142 19 43857873 . G C 1259.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.043;DP=142;Dels=0.00;FS=3.214;HRun=1;HaplotypeScore=4.8234;MQ=58.75;MQ0=0;MQRankSum=0.970;QD=8.87;ReadPosRankSum=0.612;VQSLOD=4.3120;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,51:142:99:1290,0,2234 19 43979589 43979589 G T exonic PHLDB3 synonymous SNV PHLDB3:NM_198850:exon16:c.C1896A:p.T632T 0.56 0.63 0.51 0.69 0.42 0.5 0.4710 0.5762 0.5311 0.6489 0.4205 0.4192 0.4562 0.5028 0.46 0.55 0.41 0.53 . rs1055099 COSM5427124 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4667 0.5699 0.5141 0.4364 0.6491 0.4263 0.4129 0.4386 0.5007 0.4696 0.5708 0.4797 0.3907 0.6303 0.4378 0.4038 0.4397 het 553.65 50 19 43979589 . G T 553.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.163;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=58.62;MQ0=0;MQRankSum=0.010;QD=11.07;ReadPosRankSum=-0.417;VQSLOD=6.3580;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,20:50:99:584,0,678 19 44047826 44047826 T A exonic XRCC1 nonsynonymous SNV XRCC1:NM_006297:exon16:c.A1726T:p.N576Y 1. 1. 1. 1. 1. 1. 1.0000 0.9999 0.9999 1 1 1.0000 1 1 1. 1. 1. 0.98 1. rs2682557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1.0000 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 4212.14 140 19 44047826 . T A 4212.14 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.707;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5577;MQ=58.94;MQ0=0;MQRankSum=-0.137;QD=30.09;ReadPosRankSum=-0.037;VQSLOD=8.2973;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,139:140:99:4212,322,0 19 44055726 44055726 T C exonic XRCC1 nonsynonymous SNV XRCC1:NM_006297:exon10:c.A1196G:p.Q399R 0.74 0.89 0.69 0.76 0.63 0.66 0.6834 0.8565 0.7491 0.7421 0.6836 0.6458 0.6748 0.6500 0.71 0.84 0.64 0.76 0.61 rs25487 COSM3756906 1(large_intestine) drug response|drug response|drug response|drug response|drug response carboplatin_response_-_Efficacy\x2c_Toxicity/ADR|platinum_response_-_Efficacy\x2c_Toxicity/ADR|Platinum_compounds_response_-_Efficacy\x2c_Toxicity/ADR|cisplatin_response_-_Efficacy\x2c_Toxicity/ADR|oxaliplatin_response_-_Efficacy\x2c_Toxicity/ADR RCV000211186.1|RCV000211213.1|RCV000211303.1|RCV000211309.1|RCV000211393.1 MedGen|MedGen|MedGen|MedGen|MedGen CN236496|CN236574|CN236513|CN236501|CN236570 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.999 0.216 P . . . 2.81 0.110 T 2.1 0.004 N 0.023 0.013 -0.976 0.358 T 0.000 0.000 T . . . 0.745 0.165 9.117 0.127 0.002 0.408 0.263 N c -0.600 -0.452 0.319 0.194 0.707 0.730 0 4.13 0.475 1.982 0.400 0.069 0.176 1.000 0.715 0.976 0.476 7.732 0.278 BRCT domain ENSG00000176472.6|ENSG00000176472.6|ENSG00000176472.6|ENSG00000176531.6|ENSG00000176472.6|ENSG00000124466.8|ENSG00000176472.6|ENSG00000176472.6|ENSG00000176472.6|ENSG00000124466.8|ENSG00000234465.6|ENSG00000073050.7|ENSG00000176472.6 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.6810 0.8551 0.7367 0.6174 0.7423 0.6899 0.6441 0.6733 0.6479 0.7200 0.8520 0.7231 0.5960 0.7370 0.7022 0.6510 0.6691 hom 2698.88 81 19 44055726 . T C 2698.88 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8843;MQ=60.00;MQ0=0;QD=33.32;VQSLOD=8.4085;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2732,220,0 19 44057227 44057227 T C exonic XRCC1 synonymous SNV XRCC1:NM_006297:exon7:c.A618G:p.P206P 0.32 0.4 0.26 0.12 0.42 0.37 0.4409 0.4379 0.2983 0.1491 0.5271 0.4863 0.4594 0.4161 0.42 0.4 0.43 0.25 0.28 rs915927 COSM3756907 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3681 0.3914 0.2118 0.3461 0.1073 0.4519 0.4383 0.3854 0.3894 0.4070 0.3929 0.2243 0.3567 0.1230 0.4470 0.4475 0.4122 hom 337.26 12 19 44057227 . T C 337.26 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.11;VQSLOD=13.5961;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:370,30,0 19 44098963 44098963 C G exonic IRGQ synonymous SNV IRGQ:NM_001007561:exon2:c.G528C:p.R176R 0.49 0.4 0.53 0.49 0.54 0.54 0.5266 0.4443 0.4818 0.5348 0.4734 0.5385 0.5468 0.5774 0.5 0.44 0.54 0.42 0.4 rs304725 COSM3756909 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(thyroid);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5227 0.4371 0.4870 0.6138 0.5359 0.4677 0.5333 0.5333 0.5665 0.4986 0.4504 0.4940 0.6755 0.5254 0.4558 0.5304 0.5 het 538.04 50 19 44098963 . C G 538.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.374;DP=50;Dels=0.00;FS=2.527;HRun=0;HaplotypeScore=0.9993;MQ=59.25;MQ0=0;MQRankSum=-2.013;QD=10.76;ReadPosRankSum=-1.472;VQSLOD=4.7871;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,23:50:99:568,0,686 19 44223113 44223113 G A exonic IRGC nonsynonymous SNV IRGC:NM_019612:exon2:c.G403A:p.D135N 0.051 0.011 0.02 0.14 0.025 0.064 0.0429 0.0141 0.0569 0.1421 0.0494 0.0237 0.0478 0.0684 0.017 0.012 0.019 0.054 0.0082 rs11555891 . . . . . . . . . . . . . 0.0 0.912 D 0.985 0.592 D 0.911 0.630 D 0.000 0.843 D 0.001 0.467 P 2.775 0.813 M 0.85 0.471 T -4.96 0.819 D 0.066 0.052 -1.000 0.299 T 0.004 0.013 T . . . 6.003 0.825 27.8 0.999 0.966 0.947 0.618 D c 0.717 0.697 0.725 0.230 0.497 0.185 0 4.67 0.579 5.917 0.695 0.949 0.536 1.000 0.715 0.989 0.536 13.029 0.581 IRG-type guanine nucleotide-binding (G) domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0419 0.0128 0.0511 0.0222 0.1373 0.0474 0.0223 0.0340 0.0644 0.0318 0.0134 0.0525 0.0199 0.1489 0.0453 0.0250 0.0438 het 205.93 26 19 44223113 . G A 205.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.347;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.970;QD=7.92;ReadPosRankSum=1.132;VQSLOD=5.7932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,9:26:99:236,0,517 19 44302624 44302624 T C exonic LYPD5 nonsynonymous SNV LYPD5:NM_001288763:exon3:c.A371G:p.N124S,LYPD5:NM_001031749:exon4:c.A500G:p.N167S,LYPD5:NM_182573:exon4:c.A371G:p.N124S 0.45 0.55 0.32 0.15 0.48 0.67 0.4613 0.5646 0.2583 0.1254 0.5009 0.4734 0.4923 0.6471 0.51 0.55 0.49 0.48 0.47 rs349053 COSM1394320;COSM1394321 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . 0.109 0.292 T 0.271 0.301 B 0.066 0.260 B 0.339 0.140 N 0.987 0.245 P 1.43 0.360 L -0.38 0.690 T -2.62 0.620 D 0.01 0.002 -0.928 0.445 T 0.000 0.000 T . . . 3.633 0.494 23.2 0.994 0.605 0.541 0.293 D c -0.320 -0.227 1.000 0.747 0.455 0.088 0 2.15 0.265 0.201 0.169 0.884 0.388 0.228 0.244 0.988 0.529 5.960 0.184 CD59 antigen;CD59 antigen|CD59 antigen\x2c conserved site ENSG00000266921.1|ENSG00000176222.7|ENSG00000159871.10|ENSG00000159871.10|ENSG00000176222.7|ENSG00000176222.7|ENSG00000159871.10|ENSG00000176222.7|ENSG00000159871.10|ENSG00000268601.1|ENSG00000159871.10|ENSG00000268601.1|ENSG00000159871.10|ENSG00000104783.7|ENSG00000176222.7|ENSG00000104783.7 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood 0.4492 0.5628 0.2714 0.4692 0.1214 0.4873 0.4759 0.4534 0.6452 0.4798 0.5559 0.3115 0.4901 0.1043 0.5 0.4792 0.5020 het 2833.40 190 19 44302624 . T C 2833.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.709;DP=190;Dels=0.00;FS=3.429;HRun=0;HaplotypeScore=8.7035;MQ=58.45;MQ0=0;MQRankSum=0.305;QD=14.91;ReadPosRankSum=0.695;VQSLOD=3.6425;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,96:190:99:2863,0,2516 19 44303066 44303066 C G exonic LYPD5 nonsynonymous SNV LYPD5:NM_001288763:exon2:c.G139C:p.A47P,LYPD5:NM_001031749:exon3:c.G268C:p.A90P,LYPD5:NM_182573:exon3:c.G139C:p.A47P 0.62 0.58 0.63 0.54 0.58 0.8 0.6451 0.6313 0.6665 0.5641 0.6665 0.6175 0.6339 0.7734 0.59 0.59 0.58 0.66 0.39 rs11547806 COSM1129805;COSM3927739 2(prostate) . . . . . . . . . . . 0.281 0.154 T 0.004 0.112 B 0.001 0.040 B 0.047 0.020 N 1 0.090 P -0.69 0.019 N 3.22 0.985 T -0.4 0.138 N 0.022 0.005 -0.902 0.478 T 0.000 0.000 T . . . 0.447 0.137 7.009 0.762 0.110 0.010 0.037 N c -1.760 -1.807 1.000 0.747 0.437 0.062 0 -4.2 0.035 -0.253 0.087 -2.604 0.002 0.000 0.063 0.000 0.016 2.752 0.049 . ENSG00000204920.6|ENSG00000266921.1|ENSG00000176222.7|ENSG00000159871.10|ENSG00000159871.10|ENSG00000104783.7|ENSG00000104783.7|ENSG00000176222.7|ENSG00000204920.6|ENSG00000266921.1|ENSG00000159871.10|ENSG00000268601.1|ENSG00000159871.10|ENSG00000268601.1|ENSG00000159871.10|ENSG00000104783.7|ENSG00000104783.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood 0.6148 0.6009 0.6252 0.6513 0.5293 0.6263 0.5772 0.6133 0.7668 0.5926 0.6028 0.6229 0.6656 0.5187 0.6292 0.5816 0.6096 het 82.22 16 19 44303066 . C G 82.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.152;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=58.55;MQ0=0;MQRankSum=-0.566;QD=5.14;ReadPosRankSum=-0.906;VQSLOD=4.4198;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,5:16:99:112,0,314 19 44351694 44351694 C T exonic ZNF283 nonsynonymous SNV ZNF283:NM_001297752:exon6:c.C524T:p.T175I,ZNF283:NM_181845:exon7:c.C941T:p.T314I 0.8 0.96 0.65 0.6 0.86 0.85 0.8170 0.9521 0.6061 0.5950 0.8848 0.8459 0.8411 0.8547 0.89 0.95 0.86 0.83 . rs2195980 COSM4132005 1(pancreas);1(thyroid) . . . . . . . . . . . 0.145 0.251 T 0.0 0.026 B 0.002 0.063 B . . . 1.000 0.186 P 1.635 0.420 L 1.78 0.257 T -3.2 0.647 D 0.071 0.059 -1.063 0.110 T 0.000 0.000 T . . . 3.306 0.456 22.9 0.989 0.484 0.011 0.041 N c -0.723 -0.702 0.003 0.100 0.615 0.372 0 1.97 0.252 0.552 0.229 0.077 0.185 0.126 0.231 0.997 0.653 4.910 0.131 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000159871.10|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.8073 0.9509 0.6201 0.7974 0.5862 0.8781 0.8514 0.8092 0.8552 0.8613 0.9434 0.6623 0.8079 0.5741 0.8779 0.8522 0.8661 hom 1752.31 59 19 44351694 . C T 1752.31 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.031;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9933;MQ=58.25;MQ0=0;MQRankSum=2.367;QD=29.70;ReadPosRankSum=1.278;VQSLOD=6.3696;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,57:59:83.60:1785,84,0 19 44351836 44351836 G A exonic ZNF283 synonymous SNV ZNF283:NM_001297752:exon6:c.G666A:p.Q222Q,ZNF283:NM_181845:exon7:c.G1083A:p.Q361Q 0.68 0.85 0.54 0.37 0.77 0.78 0.7127 0.8419 0.4276 0.3590 0.8217 0.7553 0.7439 0.8025 0.79 0.84 0.76 0.69 . rs957569 COSM4000776 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6988 0.8413 0.4405 0.7107 0.3563 0.8106 0.7581 0.6946 0.8028 0.7508 0.8288 0.5 0.73 0.3385 0.8075 0.7509 0.7485 het 879.97 82 19 44351836 . G A 879.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.070;DP=82;Dels=0.00;FS=1.982;HRun=1;HaplotypeScore=4.9920;MQ=57.34;MQ0=0;MQRankSum=-0.062;QD=10.73;ReadPosRankSum=0.091;VQSLOD=3.7770;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,33:82:99:910,0,1301 19 44352665 44352665 T C exonic ZNF283 nonsynonymous SNV ZNF283:NM_001297752:exon6:c.T1495C:p.C499R,ZNF283:NM_181845:exon7:c.T1912C:p.C638R 0.68 0.85 0.54 0.37 0.77 0.78 0.7125 0.8418 0.4273 0.3584 0.8216 0.7552 0.7450 0.8023 0.77 0.83 0.75 0.33 . rs2356437 COSM1394329 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.666 0.046 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.93 0.013 N 3.16 0.077 T 1.15 0.012 N 0.006 0.000 -1.046 0.155 T 0.000 0.000 T . . . -0.765 0.042 0.051 0.441 0.033 0.001 0.004 N c -1.683 -1.706 0.016 0.128 0.651 0.465 0 -1.72 0.076 -4.068 0.003 -0.532 0.049 0.000 0.063 0.000 0.016 3.364 0.067 Zinc finger C2H2-type/integrase DNA-binding domain . . 0.6995 0.8417 0.4400 0.7136 0.3561 0.8117 0.7587 0.6954 0.8055 0.7494 0.8277 0.5 0.7233 0.3377 0.8077 0.7493 0.7469 het 1365.18 116 19 44352665 . T C 1365.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.119;DP=116;Dels=0.00;FS=3.375;HRun=0;HaplotypeScore=3.8373;MQ=59.20;MQ0=0;MQRankSum=-0.113;QD=11.77;ReadPosRankSum=1.193;VQSLOD=5.7313;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:62,54:116:99:1395,0,1694 19 44377357 44377357 C T exonic ZNF404 nonsynonymous SNV ZNF404:NM_001033719:exon2:c.G1000A:p.G334S 1. 1. 1. 0.99 1. 1. 0.9996 1 0.9999 0.9951 1 1 1 0.9999 . . . 1. . rs239942 COSM4591057;COSM4591056 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P -0.945 0.013 N 1.32 0.352 T . . . 0.045 0.388 -0.956 0.400 T 0.000 0.000 T . . . -0.417 0.060 0.352 0.488 0.040 0.000 0.002 N c -0.877 -0.972 0.081 0.159 0.554 0.246 0 2.01 0.254 0.271 0.182 -0.204 0.101 0.000 0.063 0.830 0.347 2.094 0.034 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9996 1 1.0000 1 0.9947 1 1.0000 1 1.0000 0.9997 1 1 1 0.9938 1 1 1 hom 3974.90 132 19 44377357 . C T 3974.90 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9950;MQ=58.90;MQ0=0;QD=30.11;VQSLOD=8.0930;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:3974,307,0 19 44377669 44377669 G A exonic ZNF404 nonsynonymous SNV ZNF404:NM_001033719:exon2:c.C688T:p.H230Y 0.39 0.086 0.57 0.55 0.51 0.39 0.4746 0.1380 0.5806 0.5854 0.5112 0.5101 0.4812 0.3847 0.38 0.14 0.49 0.36 . rs12977303 . . . . . . . . . . . . . . . . 1.0 0.899 D 0.999 0.916 D . . . 0.867 0.282 P 3.82 0.957 H -2.17 0.866 D . . . 0.476 0.525 -1.108 0.032 T 0.000 0.000 T . . . 4.146 0.556 23.8 0.995 0.708 0.793 0.390 D c 0.568 0.342 0.999 0.388 0.638 0.428 0 2.56 0.297 0.619 0.239 0.569 0.285 0.002 0.151 0.968 0.456 12.257 0.538 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000204920.6|ENSG00000176222.7|ENSG00000267058.1|ENSG00000266921.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000266921.1|ENSG00000176222.7|ENSG00000204920.6|ENSG00000176222.7|ENSG00000266921.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000159871.10|ENSG00000267058.1|ENSG00000268601.1|ENSG00000159871.10|ENSG00000104783.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000204920.6|ENSG00000104783.7|ENSG00000266921.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4828 0.1330 0.5782 0.4842 0.5892 0.5163 0.5063 0.4960 0.3808 0.4089 0.1450 0.5625 0.5166 0.5871 0.5123 0.5052 0.4602 het 1184.38 123 19 44377669 . G A 1184.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.122;DP=123;Dels=0.00;FS=4.565;HRun=0;HaplotypeScore=1.9966;MQ=59.81;MQ0=0;MQRankSum=0.375;QD=9.63;ReadPosRankSum=-0.524;VQSLOD=5.8595;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,53:123:99:1214,0,2042 19 44417575 44417575 A G exonic ZNF45 synonymous SNV ZNF45:NM_003425:exon10:c.T2013C:p.F671F 0.54 0.39 0.66 0.8 0.51 0.42 0.5431 0.3879 0.7224 0.8235 0.5191 0.5181 0.5255 0.4442 0.47 0.4 0.5 0.56 0.52 rs417699 COSM1179784 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5449 0.3869 0.7126 0.5078 0.8205 0.5275 0.5134 0.5423 0.4103 0.5000 0.3930 0.6814 0.5199 0.8247 0.5223 0.5114 0.5010 het 1622.98 105 19 44417575 . A G 1622.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.383;DP=105;Dels=0.00;FS=3.692;HRun=2;HaplotypeScore=2.9111;MQ=59.78;MQ0=0;MQRankSum=-0.310;QD=15.46;ReadPosRankSum=0.211;VQSLOD=6.0170;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,61:105:99:1653,0,1152 19 44418077 44418077 C T exonic ZNF45 nonsynonymous SNV ZNF45:NM_003425:exon10:c.G1511A:p.R504K 0.53 0.33 0.65 0.8 0.52 0.42 0.5279 0.3421 0.7188 0.8223 0.5194 0.5164 0.5121 0.4076 0.46 0.36 0.51 0.53 0.51 rs407731 . . . . . . . . . . . . . 0.324 0.134 T 0.0 0.026 B 0.0 0.013 B 0.035 0.246 N 1 0.090 P 0.215 0.096 N 3.2 0.073 T 1.07 0.013 N 0.029 0.010 -1.083 0.067 T 0.000 0.000 T . . . 1.087 0.198 11.15 0.884 0.174 0.000 0.004 N c -1.000 -0.856 0.004 0.105 0.672 0.522 0 2.56 0.297 1.448 0.345 -0.302 0.080 0.002 0.151 0.994 0.587 5.963 0.184 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000204920.6|ENSG00000176222.7|ENSG00000267058.1|ENSG00000266921.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000204920.6|ENSG00000176222.7|ENSG00000266921.1|ENSG00000176222.7|ENSG00000204920.6|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000204920.6|ENSG00000176222.7|ENSG00000159871.10|ENSG00000268601.1|ENSG00000266921.1|ENSG00000176222.7|ENSG00000159871.10|ENSG00000104783.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000176222.7|ENSG00000204920.6|ENSG00000104783.7|ENSG00000266921.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood 0.5370 0.3430 0.7079 0.4955 0.8193 0.5267 0.5109 0.5375 0.4038 0.4893 0.3517 0.6831 0.5233 0.8267 0.5224 0.5131 0.4979 het 760.75 64 19 44418077 . C T 760.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.656;DP=64;Dels=0.00;FS=6.611;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.374;QD=11.89;ReadPosRankSum=0.995;VQSLOD=4.9674;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,28:64:99:791,0,1051 19 44418343 44418343 C T exonic ZNF45 synonymous SNV ZNF45:NM_003425:exon10:c.G1245A:p.P415P 0.53 0.33 0.65 0.8 0.52 0.42 0.5275 0.3414 0.7175 0.8222 0.5192 0.5163 0.5121 0.4068 0.46 0.36 0.51 0.53 0.52 rs406968 COSM1394342 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5370 0.3430 0.7077 0.4956 0.8194 0.5265 0.5110 0.5376 0.4039 0.4893 0.3528 0.6818 0.5233 0.8243 0.5227 0.5121 0.5010 het 1367.77 141 19 44418343 . C T 1367.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.882;DP=141;Dels=0.00;FS=1.383;HRun=0;HaplotypeScore=5.2753;MQ=59.69;MQ0=0;MQRankSum=-0.657;QD=9.70;ReadPosRankSum=-0.049;VQSLOD=4.5588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,55:141:99:1398,0,2214 19 44418544 44418544 A G exonic ZNF45 synonymous SNV ZNF45:NM_003425:exon10:c.T1044C:p.N348N 0.53 0.33 0.65 0.8 0.52 0.42 0.5282 0.3415 0.7186 0.8227 0.52 0.5165 0.5156 0.4056 0.46 0.36 0.51 0.53 0.52 rs425221 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5365 0.3429 0.7079 0.4925 0.8195 0.5255 0.5103 0.5374 0.4015 0.4880 0.3509 0.6823 0.5168 0.8257 0.5215 0.5116 0.4969 het 1430.14 118 19 44418544 . A G 1430.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.907;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6120;MQ=59.22;MQ0=0;MQRankSum=1.456;QD=12.12;ReadPosRankSum=-0.705;VQSLOD=6.4856;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,54:118:99:1460,0,1854 19 44418693 44418693 T C exonic ZNF45 nonsynonymous SNV ZNF45:NM_003425:exon10:c.A895G:p.T299A 0.53 0.33 0.65 0.8 0.52 0.42 0.5272 0.3414 0.7181 0.8225 0.5197 0.5157 0.5121 0.4059 0.46 0.36 0.51 0.53 0.51 rs388706 COSM4132009 1(thyroid) . . . . . . . . . . . 0.054 0.386 T 0.0 0.026 B 0.002 0.063 B 0.028 0.017 N 1 0.090 P 0.475 0.132 N 1.73 0.264 T -3.49 0.680 D 0.015 0.002 -0.903 0.477 T 0.000 0.000 T . . . -0.624 0.049 0.109 0.328 0.019 0.065 0.123 N c -1.784 -1.871 0.003 0.098 0.707 0.730 0 -2.16 0.066 -0.554 0.060 -0.802 0.032 0.000 0.063 0.000 0.016 6.297 0.202 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000204920.6|ENSG00000176222.7|ENSG00000267058.1|ENSG00000266921.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000204920.6|ENSG00000176222.7|ENSG00000266921.1|ENSG00000176222.7|ENSG00000204920.6|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000204920.6|ENSG00000176222.7|ENSG00000159871.10|ENSG00000268601.1|ENSG00000266921.1|ENSG00000176222.7|ENSG00000159871.10|ENSG00000104783.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000176222.7|ENSG00000204920.6|ENSG00000104783.7|ENSG00000266921.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood 0.5363 0.3428 0.7075 0.4945 0.8194 0.5261 0.5102 0.5375 0.4022 0.4845 0.3500 0.6763 0.5199 0.8234 0.5209 0.5060 0.4918 het 765.40 96 19 44418693 . T C 765.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.330;DP=96;Dels=0.00;FS=11.165;HRun=0;HaplotypeScore=5.9152;MQ=58.77;MQ0=0;MQRankSum=1.013;QD=7.97;ReadPosRankSum=-0.176;VQSLOD=3.4803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,29:96:99:795,0,1808 19 44418775 44418775 C T exonic ZNF45 synonymous SNV ZNF45:NM_003425:exon10:c.G813A:p.T271T 0.015 0.0008 0.023 . 0.042 0.014 0.0223 0.0051 0.0211 0.0001 0.0082 0.0314 0.0177 0.0151 0.021 0.0066 0.028 0.011 0.025 rs61731635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0225 0.0049 0.0226 0.0237 5.799e-05 0.0071 0.0330 0.0278 0.0159 0.0161 0.0048 0.0143 0.0033 0 0.0072 0.0269 0.0173 het 2220.20 137 19 44418775 . C T 2220.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.142;DP=137;Dels=0.00;FS=3.140;HRun=0;HaplotypeScore=1.9452;MQ=59.12;MQ0=0;MQRankSum=0.253;QD=16.21;ReadPosRankSum=0.411;VQSLOD=6.0148;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,78:137:99:2250,0,1449 19 44418824 44418824 C T exonic ZNF45 nonsynonymous SNV ZNF45:NM_003425:exon10:c.G764A:p.R255K 0.41 0.17 0.58 0.55 0.51 0.39 0.4790 0.2107 0.5826 0.5780 0.5124 0.5099 0.4802 0.3845 0.41 0.23 0.5 0.41 0.5 rs399098 COSM1178459 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.023 0.266 N 0.969 0.258 P -1.135 0.009 N 3.01 0.091 T 1.15 0.012 N 0.047 0.028 -0.936 0.432 T 0.000 0.000 T . . . 0.252 0.118 5.219 0.290 0.015 0.006 0.027 N c -1.172 -1.124 0.003 0.101 0.566 0.321 0 0.479 0.159 -0.023 0.123 0.067 0.174 0.001 0.137 0.004 0.083 5.566 0.163 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000204920.6|ENSG00000176222.7|ENSG00000267058.1|ENSG00000266921.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000204920.6|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000176222.7|ENSG00000176222.7|ENSG00000176222.7|ENSG00000266921.1|ENSG00000176222.7|ENSG00000204920.6|ENSG00000176222.7|ENSG00000267058.1|ENSG00000266921.1|ENSG00000176222.7|ENSG00000159871.10|ENSG00000268601.1|ENSG00000159871.10|ENSG00000104783.7|ENSG00000176222.7|ENSG00000267058.1|ENSG00000204920.6|ENSG00000104783.7|ENSG00000266921.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4875 0.2068 0.5826 0.4844 0.5810 0.5167 0.5060 0.5024 0.3808 0.4302 0.2209 0.5670 0.5133 0.5836 0.5120 0.5050 0.4642 het 1919.53 149 19 44418824 . C T 1919.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.012;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.7868;MQ=58.54;MQ0=0;MQRankSum=-0.004;QD=12.88;ReadPosRankSum=0.061;VQSLOD=4.8946;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:78,71:149:99:1950,0,2180 19 44419030 44419030 A G exonic ZNF45 synonymous SNV ZNF45:NM_003425:exon10:c.T558C:p.H186H 0.99 0.98 1. 1. 1. 1. 0.9984 0.9839 0.9984 1 1 0.9999 1 0.9998 0.99 0.98 1. 1. 0.99 rs420242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9987 0.9827 0.9988 1 1 1.0000 0.9999 0.9989 0.9998 0.9946 0.9812 0.9976 1 0.9994 1 1 1 hom 5266.45 169 19 44419030 . A G 5266.45 Mask AC=2;AF=1.00;AN=2;DP=169;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9657;MQ=59.48;MQ0=0;QD=31.16;VQSLOD=8.9983;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5265,421,0 19 44470189 44470189 T A exonic ZNF221 nonsynonymous SNV ZNF221:NM_001297588:exon5:c.T535A:p.F179I,ZNF221:NM_001297589:exon5:c.T535A:p.F179I,ZNF221:NM_013359:exon6:c.T535A:p.F179I 0.94 0.8 0.98 1. 1. 0.99 0.9827 0.8221 0.9890 1 1 0.9986 0.9912 0.9986 0.94 0.82 1. 0.92 0.98 rs454301 COSM3724266 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.115 0.285 T 0.664 0.391 P 0.116 0.303 B . . . 1 0.090 P 2.595 0.761 M 1.06 0.398 T -5.09 0.829 D 0.124 0.140 -0.989 0.328 T 0.000 0.000 T . . . 1.948 0.295 15.89 0.944 0.242 0.284 0.233 N c -0.629 -0.733 0.136 0.172 0.563 0.310 0 1.55 0.222 -0.089 0.111 0.025 0.148 0.000 0.063 0.001 0.043 6.521 0.213 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9866 0.8221 0.9900 0.9936 1 1 0.9990 0.9936 0.9988 0.9511 0.831 0.9845 0.9967 1 1 0.9990 0.9868 hom 5376.30 160 19 44470189 . T A 5376.30 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7088;MQ=58.67;MQ0=0;QD=33.60;VQSLOD=8.2978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5376,433,0 19 44470420 44470420 T C exonic ZNF221 nonsynonymous SNV ZNF221:NM_001297588:exon5:c.T766C:p.C256R,ZNF221:NM_001297589:exon5:c.T766C:p.C256R,ZNF221:NM_013359:exon6:c.T766C:p.C256R 0.84 0.55 0.94 0.98 0.97 0.91 0.9331 0.6060 0.9663 0.9809 0.9776 0.9683 0.9482 0.9302 0.85 0.62 0.97 0.84 0.87 rs439676 . . . . . . . . . . . . . 0.015 0.524 D 1.0 0.899 D 1.0 0.971 D . . . 1.000 0.090 P 4.53 0.991 H -1.96 0.851 D -10.79 0.992 D 0.085 0.080 -0.919 0.456 T 0.000 0.000 T . . . 4.029 0.541 23.6 0.993 0.576 0.165 0.192 N c -0.065 -0.406 0.040 0.144 0.563 0.310 0 -0.025 0.132 -0.091 0.110 0.946 0.533 0.000 0.063 0.117 0.195 8.421 0.317 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9424 0.6002 0.9667 0.9426 0.9805 0.9779 0.9703 0.9591 0.9350 0.8663 0.6071 0.9543 0.9371 0.9758 0.9774 0.9671 0.9540 hom 6784.93 212 19 44470420 . T C 6784.93 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3322;MQ=59.48;MQ0=0;QD=32.00;VQSLOD=9.3371;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6784,566,0 19 44470548 44470548 A G exonic ZNF221 synonymous SNV ZNF221:NM_001297588:exon5:c.A894G:p.Q298Q,ZNF221:NM_001297589:exon5:c.A894G:p.Q298Q,ZNF221:NM_013359:exon6:c.A894G:p.Q298Q 0.96 0.86 0.98 1. 1. 1. 0.9874 0.8721 0.9913 1 1 0.9986 0.9945 0.9996 0.96 0.87 1. 0.94 0.97 rs453640 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9901 0.8719 0.9920 0.9935 1 1 0.9991 0.9947 0.9997 0.9638 0.8757 0.9845 0.9967 1 1 0.9991 0.9908 hom 7904.37 233 19 44470548 . A G 7904.37 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.409;DP=233;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.5231;MQ=59.48;MQ0=0;MQRankSum=1.717;QD=33.92;ReadPosRankSum=0.914;VQSLOD=6.0957;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,232:233:99:7882,589,0 19 44470663 44470663 G C exonic ZNF221 nonsynonymous SNV ZNF221:NM_001297588:exon5:c.G1009C:p.A337P,ZNF221:NM_001297589:exon5:c.G1009C:p.A337P,ZNF221:NM_013359:exon6:c.G1009C:p.A337P 0.96 0.85 0.98 1. 1. 1. 0.9869 0.8672 0.9908 1 1 0.9986 0.9945 0.9996 0.95 0.87 1. 0.94 0.98 rs435590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9898 0.8669 0.9918 0.9936 1 1 0.9991 0.9943 0.9997 0.9619 0.8691 0.9845 0.9967 1 1 0.9991 0.9898 hom 8073.43 245 19 44470663 . G C 8073.43 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.449;DP=245;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4429;MQ=58.81;MQ0=0;MQRankSum=1.591;QD=32.95;ReadPosRankSum=1.548;VQSLOD=7.9931;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,244:245:99:8040,599,0 19 44471209 44471209 T A exonic ZNF221 nonsynonymous SNV ZNF221:NM_001297588:exon5:c.T1555A:p.S519T,ZNF221:NM_001297589:exon5:c.T1555A:p.S519T,ZNF221:NM_013359:exon6:c.T1555A:p.S519T 0.74 0.48 0.85 0.85 0.85 0.76 0.8242 0.5392 0.8922 0.8483 0.8168 0.8549 0.8238 0.8221 0.75 0.55 0.86 0.74 0.88 rs365745 COSM4997926 1(pancreas) . . . . . . . . . . . 0.147 0.249 T 0.038 0.196 B 0.013 0.154 B . . . 1 0.090 P 1.73 0.448 L 2.25 0.178 T -1.84 0.431 N 0.041 0.021 -1.080 0.073 T 0.000 0.000 T . . . 1.326 0.223 12.40 0.876 0.168 0.182 0.199 N c -0.763 -0.836 0.002 0.093 0.563 0.310 0 1.55 0.222 0.213 0.172 -0.053 0.122 0.000 0.063 0.000 0.016 4.269 0.102 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.8335 0.5356 0.8920 0.8314 0.8471 0.8214 0.8580 0.8497 0.8277 0.7615 0.5464 0.8878 0.8146 0.8467 0.8211 0.8509 0.8238 het 1234.26 92 19 44471209 . T A 1234.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.320;DP=92;Dels=0.00;FS=3.957;HRun=0;HaplotypeScore=4.6574;MQ=57.24;MQ0=0;MQRankSum=1.768;QD=13.42;ReadPosRankSum=-0.364;VQSLOD=4.1091;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,50:92:99:1264,0,1083 19 44471252 44471252 T C exonic ZNF221 nonsynonymous SNV ZNF221:NM_001297588:exon5:c.T1598C:p.L533P,ZNF221:NM_001297589:exon5:c.T1598C:p.L533P,ZNF221:NM_013359:exon6:c.T1598C:p.L533P 0.096 0.015 0.089 0.14 0.12 0.14 0.1050 0.0226 0.0723 0.1334 0.1609 0.1133 0.1211 0.1081 0.082 0.029 0.11 0.087 0.057 rs61734609 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 0.114 0.358 P -0.77 0.017 N 2.93 0.098 T 8.59 0.000 N 0.033 0.013 -0.932 0.439 T 0.000 0.000 T . . . -0.703 0.045 0.071 0.046 0.000 0.006 0.025 N c -1.311 -1.259 0.004 0.103 0.563 0.310 0 1.74 0.235 0.969 0.288 -1.153 0.017 0.071 0.219 0.000 0.016 7.557 0.268 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 . . 0.1060 0.0208 0.0730 0.1112 0.1335 0.1566 0.1123 0.1087 0.1073 0.0942 0.0228 0.0670 0.1225 0.1292 0.1569 0.1163 0.1247 het 1126.95 100 19 44471252 . T C 1126.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.801;DP=100;Dels=0.00;FS=3.761;HRun=1;HaplotypeScore=0.9469;MQ=58.13;MQ0=0;MQRankSum=-1.025;QD=11.27;ReadPosRankSum=-1.018;VQSLOD=4.0074;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,45:100:99:1157,0,1560 19 44471323 44471323 G A exonic ZNF221 nonsynonymous SNV ZNF221:NM_001297588:exon5:c.G1669A:p.G557R,ZNF221:NM_001297589:exon5:c.G1669A:p.G557R,ZNF221:NM_013359:exon6:c.G1669A:p.G557R 0.85 0.8 0.89 0.86 0.88 0.85 0.8780 0.8061 0.9167 0.8672 0.8387 0.8847 0.8700 0.8906 0.86 0.8 0.89 0.84 0.93 rs366111 . . . . . . . . . . . . . 0.07 0.353 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.198 P -0.24 0.039 N 2.29 0.171 T 1.0 0.014 N 0.014 0.002 -1.073 0.087 T 0.000 0.000 T . . . 4.350 0.582 24.1 0.964 0.291 0.032 0.081 N c -0.915 -0.833 0.008 0.116 0.563 0.310 0 1.59 0.225 1.036 0.296 0.112 0.206 0.003 0.159 0.002 0.062 5.150 0.142 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 . . 0.8808 0.8097 0.9167 0.8824 0.8666 0.8427 0.8861 0.8849 0.8915 0.8588 0.8158 0.9163 0.88 0.8711 0.8424 0.8824 0.8640 het 1571.82 117 19 44471323 . G A 1571.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.107;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8268;MQ=58.43;MQ0=0;MQRankSum=-0.668;QD=13.43;ReadPosRankSum=-1.214;VQSLOD=4.7474;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,61:117:99:1602,0,1398 19 44500478 44500478 A T exonic ZNF155 nonsynonymous SNV ZNF155:NM_001260486:exon5:c.A469T:p.I157F,ZNF155:NM_001260487:exon5:c.A469T:p.I157F,ZNF155:NM_003445:exon5:c.A469T:p.I157F,ZNF155:NM_198089:exon5:c.A469T:p.I157F,ZNF155:NM_001260488:exon6:c.A502T:p.I168F 0.98 0.92 0.99 1. 1. 1. 0.9929 0.9323 0.9940 1 1 0.9988 0.9978 0.9998 0.98 0.93 1. 0.98 1. rs398235 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.19 0.001 N 5.32 0.011 T 5.62 0.000 N 0.039 0.195 -1.027 0.215 T 0.000 0.000 T . . . -1.287 0.022 0.005 0.132 0.003 0.000 0.003 N c -1.838 -1.705 0.004 0.104 0.651 0.465 0 1.65 0.229 0.093 0.148 0.088 0.194 0.003 0.159 0.039 0.156 3.925 0.087 . . . 0.9944 0.9336 0.9953 0.9912 1 1 0.9993 0.9940 0.9998 0.9807 0.9345 0.9928 0.9901 1 1 0.9994 0.9929 hom 6690.69 192 19 44500478 . A T 6690.69 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8274;MQ=59.71;MQ0=0;QD=34.85;VQSLOD=8.6540;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:6690,518,0 19 44500761 44500761 G A exonic ZNF155 nonsynonymous SNV ZNF155:NM_001260486:exon5:c.G752A:p.R251H,ZNF155:NM_001260487:exon5:c.G752A:p.R251H,ZNF155:NM_003445:exon5:c.G752A:p.R251H,ZNF155:NM_198089:exon5:c.G752A:p.R251H,ZNF155:NM_001260488:exon6:c.G785A:p.R262H 0.9 0.66 0.97 0.99 0.99 0.98 0.9625 0.6959 0.9767 0.9812 0.9994 0.9916 0.9824 0.9772 0.89 0.71 0.99 0.89 1. rs448921 . . . . . . . . . . . . . 0.554 0.065 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P 1.78 0.463 L 1.19 0.376 T -0.26 0.140 N 0.02 0.004 -1.054 0.132 T 0.000 0.000 T . . . -0.651 0.047 0.094 0.475 0.038 0.024 0.067 N c -1.478 -1.710 0.256 0.187 0.651 0.465 0 -5.18 0.026 -1.841 0.018 -0.912 0.026 0.000 0.063 0.001 0.043 6.574 0.216 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9680 0.6854 0.9779 0.9591 0.9809 0.9989 0.9930 0.9746 0.9790 0.9066 0.6907 0.9737 0.9603 0.9753 0.9991 0.9934 0.9745 hom 6669.63 211 19 44500761 . G A 6669.63 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6229;MQ=59.23;MQ0=0;QD=31.61;VQSLOD=9.6263;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6669,533,0 19 44501116 44501116 A G exonic ZNF155 synonymous SNV ZNF155:NM_001260486:exon5:c.A1107G:p.E369E,ZNF155:NM_001260487:exon5:c.A1107G:p.E369E,ZNF155:NM_003445:exon5:c.A1107G:p.E369E,ZNF155:NM_198089:exon5:c.A1107G:p.E369E,ZNF155:NM_001260488:exon6:c.A1140G:p.E380E 0.91 0.67 0.97 1. 0.99 1. 0.9690 0.7109 0.9793 1 0.9995 0.9937 0.9879 0.9955 0.9 0.72 0.99 0.9 1. rs388812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9740 0.7003 0.9800 0.9755 0.9999 0.9990 0.9945 0.9785 0.9956 0.9114 0.7002 0.9761 0.9801 1 0.9991 0.9946 0.9776 hom 6083.46 184 19 44501116 . A G 6083.46 Mask AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2772;MQ=59.60;MQ0=0;QD=33.06;VQSLOD=9.1131;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:184:99:6038,472,0 19 44501227 44501227 A G exonic ZNF155 synonymous SNV ZNF155:NM_001260486:exon5:c.A1218G:p.G406G,ZNF155:NM_001260487:exon5:c.A1218G:p.G406G,ZNF155:NM_003445:exon5:c.A1218G:p.G406G,ZNF155:NM_198089:exon5:c.A1218G:p.G406G,ZNF155:NM_001260488:exon6:c.A1251G:p.G417G 0.9 0.66 0.97 1. 0.99 1. 0.9681 0.6989 0.9783 1 0.9995 0.9936 0.9890 0.9953 0.9 0.71 0.99 0.9 1. rs388471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9732 0.6881 0.9794 0.9758 0.9999 0.9990 0.9944 0.9785 0.9955 0.9090 0.6916 0.9737 0.9801 1 0.9991 0.9945 0.9776 hom 4259.99 128 19 44501227 . A G 4259.99 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.704;DP=128;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.8857;MQ=59.07;MQ0=0;MQRankSum=1.597;QD=33.28;ReadPosRankSum=0.677;VQSLOD=7.3515;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,127:128:99:4226,301,0 19 44535999 44535999 G T exonic ZNF222 nonsynonymous SNV ZNF222:NM_001129996:exon4:c.G292T:p.V98F,ZNF222:NM_013360:exon4:c.G172T:p.V58F 0.42 0.15 0.36 0.29 0.71 0.64 0.5837 0.2322 0.3107 0.2984 0.7164 0.6941 0.6164 0.6453 0.54 0.24 0.7 0.39 0.69 rs7258517 COSM3766369;COSM3766368 1(liver) . . . . . . . . . . . 0.125 0.292 T 0.035 0.202 B 0.033 0.210 B . . . 1 0.090 P 0.24 0.097 N 3.4 0.059 T -2.7 0.603 D 0.049 0.048 -1.032 0.199 T 0.000 0.000 T . . . 0.611 0.152 8.233 0.944 0.242 0.010 0.037 N c -1.477 -1.503 0.000 0.059 0.563 0.310 0 -3.06 0.050 -3.140 0.006 -0.659 0.040 0.000 0.063 0.000 0.016 4.319 0.104 Krueppel-associated box ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.5790 0.2257 0.3246 0.6043 0.2955 0.7119 0.7014 0.5913 0.6408 0.5383 0.2394 0.3663 0.5662 0.3067 0.7133 0.6978 0.6581 hom 4945.28 158 19 44535999 . G T 4945.28 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8490;MQ=59.44;MQ0=0;QD=31.30;VQSLOD=9.0278;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4945,382,0 19 44564981 44564981 G A exonic ZNF223 synonymous SNV ZNF223:NM_013361:exon4:c.G222A:p.R74R 0.73 0.66 0.71 0.57 0.89 0.84 0.8052 0.6955 0.6756 0.5449 0.8702 0.8684 0.8282 0.8187 0.81 0.71 0.87 0.74 0.93 rs3826941 COSM4000779 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8030 0.6973 0.6799 0.8349 0.5469 0.8732 0.8722 0.8169 0.8191 0.8016 0.6997 0.7005 0.8133 0.5542 0.8768 0.8721 0.8473 hom 8086.77 236 19 44564981 . G A 8086.77 Mask AC=2;AF=1.00;AN=2;DP=236;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=34.27;VQSLOD=10.1293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,235:236:99:8086,629,0 19 44570393 44570393 C A exonic ZNF223 nonsynonymous SNV ZNF223:NM_013361:exon5:c.C412A:p.L138I 0.4 0.15 0.35 0.3 0.66 0.62 0.5465 0.2174 0.3451 0.3074 0.6070 0.6397 0.5606 0.6185 0.5 0.23 0.65 0.37 0.61 rs6509138 . . . . . . . . . . . . . 0.105 0.298 T 0.182 0.275 B 0.04 0.225 B . . . 1 0.090 P 0.88 0.216 L 3.56 0.053 T -0.87 0.236 N 0.06 0.044 -1.058 0.122 T 0.000 0.000 T . . . 0.018 0.095 2.756 0.923 0.211 0.039 0.092 N c -1.100 -1.203 0.003 0.099 0.563 0.310 0 -0.505 0.113 -1.228 0.030 -0.065 0.121 0.000 0.063 0.001 0.043 2.044 0.033 . ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8 Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5441 0.2130 0.3561 0.5867 0.3049 0.5999 0.6464 0.5613 0.6196 0.4937 0.2239 0.3876 0.5497 0.3185 0.6011 0.6424 0.5969 hom 4088.74 126 19 44570393 . C A 4088.74 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8930;MQ=58.85;MQ0=0;QD=32.45;VQSLOD=9.6185;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4088,322,0 19 44570551 44570551 G A exonic ZNF223 synonymous SNV ZNF223:NM_013361:exon5:c.G570A:p.A190A 0.77 0.82 0.73 0.57 0.89 0.84 0.8170 0.8255 0.6810 0.5454 0.8702 0.8685 0.8326 0.8186 0.86 0.83 0.87 0.8 0.93 rs4375771 COSM5427185 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8121 0.8261 0.6859 0.8351 0.5469 0.8730 0.8724 0.8210 0.8197 0.8360 0.8197 0.7076 0.8146 0.5538 0.8766 0.8728 0.8535 hom 6989.71 225 19 44570551 . G A 6989.71 Mask AC=2;AF=1.00;AN=2;DP=225;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6434;MQ=58.90;MQ0=0;QD=31.07;VQSLOD=7.7530;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:225:99:6989,569,0 19 44571154 44571154 T C exonic ZNF223 synonymous SNV ZNF223:NM_013361:exon5:c.T1173C:p.H391H 0.41 0.15 0.37 0.3 0.68 0.64 0.5745 0.2239 0.3587 0.3082 0.6365 0.6747 0.5958 0.6543 0.53 0.24 0.68 0.4 0.62 rs4433920 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5702 0.2182 0.3699 0.5944 0.3053 0.6277 0.6816 0.5927 0.6545 0.5158 0.2309 0.4055 0.5596 0.3205 0.6314 0.6738 0.6181 hom 3369.08 101 19 44571154 . T C 3369.08 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=60.00;MQ0=0;QD=33.36;VQSLOD=8.8991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3369,259,0 19 44590000 44590002 CTC - exonic ZNF284 nonframeshift deletion ZNF284:NM_001037813:exon5:c.369_371del:p.S124del 0.45 0.27 0.37 0.33 0.67 0.66 0.5727 0.3422 0.3939 0.3350 0.6108 0.6480 0.5732 0.6442 0.55 0.35 0.66 . . rs369411341 COSM5713348 4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5672 0.3355 0.3994 0.5899 0.3332 0.6040 0.6544 0.5767 0.6453 0.5304 0.3346 0.4211 0.5503 0.3414 0.6041 0.6486 0.6055 hom 4929.35 96 19 44589999 . TCTC T 4929.35 Mask AC=2;AF=1.00;AN=2;DP=96;FS=0.000;HRun=0;HaplotypeScore=419.9665;MQ=54.29;MQ0=0;QD=51.35;set=variant2 GT:AD:DP:GQ:PL 1/1:1,95:96:99:4929,286,0 19 44590558 44590558 C T exonic ZNF284 synonymous SNV ZNF284:NM_001037813:exon5:c.C927T:p.H309H 0.44 0.24 0.36 0.3 0.67 0.65 0.5677 0.3196 0.3924 0.3112 0.6080 0.6461 0.5697 0.6401 0.55 0.34 0.65 0.38 . rs7255701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5623 0.3138 0.3987 0.5833 0.3107 0.6010 0.6529 0.5732 0.6404 0.5250 0.3162 0.4187 0.55 0.3244 0.6040 0.6500 0.6035 hom 3862.34 117 19 44590558 . C T 3862.34 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.01;VQSLOD=14.0289;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3862,316,0 19 44610665 44610665 A G exonic ZNF224 nonsynonymous SNV ZNF224:NM_001321645:exon6:c.A352G:p.M118V,ZNF224:NM_013398:exon6:c.A352G:p.M118V 0.79 0.88 0.74 0.59 0.88 0.81 0.8237 0.8676 0.7419 0.5816 0.8382 0.8693 0.8311 0.7891 0.87 0.87 0.87 0.84 0.94 rs2068061 COSM5427148 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.567 0.062 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.045 0.269 L 3.48 0.052 T -0.33 0.125 N 0.015 0.002 -1.049 0.146 T 0.000 0.000 T . . . -0.068 0.087 1.980 0.261 0.012 0.028 0.073 N c -1.602 -1.663 0.002 0.094 0.707 0.730 0 -0.821 0.102 -2.378 0.011 -0.956 0.024 0.000 0.063 0.001 0.043 7.317 0.255 . ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8190 0.8677 0.7424 0.8182 0.5816 0.8421 0.8750 0.8239 0.7910 0.8505 0.8718 0.7554 0.8212 0.5866 0.8434 0.8751 0.8337 hom 3201.97 98 19 44610665 . A G 3201.97 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2401;MQ=59.57;MQ0=0;QD=32.67;VQSLOD=8.5221;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3235,250,0 19 44610798 44610798 A T exonic ZNF224 nonsynonymous SNV ZNF224:NM_001321645:exon6:c.A485T:p.H162L,ZNF224:NM_013398:exon6:c.A485T:p.H162L 0.8 0.9 0.75 0.62 0.88 0.81 0.8288 0.8922 0.7360 0.6051 0.8384 0.8704 0.8356 0.7942 0.88 0.89 0.87 0.85 0.94 rs4239529 COSM1394390 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.811 0.030 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.04 0.263 L 2.47 0.148 T -1.01 0.266 N 0.021 0.005 -1.002 0.294 T 0.000 0.000 T . . . 0.389 0.131 6.517 0.436 0.033 0.088 0.145 N c -1.402 -1.487 0.011 0.122 0.707 0.730 0 -1.7 0.077 -1.979 0.016 -0.693 0.038 0.000 0.063 0.013 0.120 5.012 0.136 . ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid 0.8213 0.8920 0.7364 0.8270 0.6077 0.8421 0.8751 0.8270 0.7910 0.8567 0.8894 0.7530 0.8311 0.6136 0.8440 0.8745 0.8378 hom 5214.27 161 19 44610798 . A T 5214.27 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2423;MQ=58.94;MQ0=0;QD=32.39;VQSLOD=9.1474;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:5214,409,0 19 44610843 44610843 C T exonic ZNF224 nonsynonymous SNV ZNF224:NM_001321645:exon6:c.C530T:p.T177M,ZNF224:NM_013398:exon6:c.C530T:p.T177M 0.063 0.0061 0.052 0.099 0.11 0.056 0.1010 0.0183 0.0512 0.1141 0.1480 0.1256 0.0938 0.0535 0.088 0.023 0.12 0.065 0.098 rs72480796 . . . . . . . . . . . . . 0.122 0.276 T 0.999 0.764 D 0.975 0.717 D . . . 1 0.090 P 0.85 0.213 L 2.41 0.155 T -3.09 0.634 D 0.055 0.138 -1.082 0.070 T 0.001 0.003 T . . . 4.177 0.560 23.8 0.995 0.671 0.073 0.131 N c -0.646 -0.957 0.534 0.212 0.707 0.730 0 -6.48 0.017 -5.024 0.002 -0.008 0.133 0.000 0.063 0.012 0.117 2.578 0.045 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0972 0.0184 0.0498 0.0855 0.1094 0.1433 0.1250 0.1057 0.0500 0.1044 0.0228 0.0573 0.0894 0.1210 0.1501 0.1421 0.1092 het 2658 215 19 44610843 . C T 2658 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.620;DP=215;Dels=0.00;FS=1.075;HRun=0;HaplotypeScore=9.5792;MQ=58.61;MQ0=0;MQRankSum=1.134;QD=12.36;ReadPosRankSum=-0.164;VQSLOD=4.1809;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,101:215:99:2688,0,2942 19 44611066 44611066 T C exonic ZNF224 synonymous SNV ZNF224:NM_001321645:exon6:c.T753C:p.H251H,ZNF224:NM_013398:exon6:c.T753C:p.H251H 0.66 0.58 0.56 0.53 0.86 0.76 0.7623 0.6339 0.4814 0.5388 0.7979 0.8601 0.7759 0.7477 0.78 0.62 0.86 0.72 0.92 rs7508149 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7508 0.6287 0.4896 0.8089 0.5424 0.7995 0.8658 0.7654 0.7471 0.7670 0.6408 0.5371 0.8133 0.5556 0.8034 0.8648 0.7955 hom 7448.57 230 19 44611066 . T C 7448.57 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3204;MQ=58.87;MQ0=0;QD=32.39;VQSLOD=8.8534;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7448,572,0 19 44611420 44611420 A G exonic ZNF224 synonymous SNV ZNF224:NM_001321645:exon6:c.A1107G:p.E369E,ZNF224:NM_013398:exon6:c.A1107G:p.E369E 0.64 0.62 0.55 0.53 0.81 0.69 0.7302 0.6648 0.4800 0.5379 0.7423 0.8165 0.7546 0.6879 0.76 0.66 0.82 0.76 0.88 rs4508518 COSM5619137 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7211 0.6592 0.4914 0.7948 0.5425 0.7444 0.8246 0.7424 0.6842 0.7461 0.6729 0.5239 0.7980 0.5560 0.7355 0.8221 0.7571 hom 4194.65 126 19 44611420 . A G 4194.65 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2872;MQ=59.08;MQ0=0;QD=33.29;VQSLOD=8.6639;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4194,337,0 19 44612005 44612005 A G exonic ZNF224 synonymous SNV ZNF224:NM_001321645:exon6:c.A1692G:p.G564G,ZNF224:NM_013398:exon6:c.A1692G:p.G564G 0.58 0.41 0.51 0.54 0.81 0.69 0.7105 0.4596 0.4628 0.5421 0.7711 0.8150 0.7533 0.6810 0.7 0.46 0.82 0.58 0.89 rs3746321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7068 0.4531 0.4704 0.7671 0.5467 0.7734 0.8235 0.7349 0.6844 0.6840 0.4538 0.4988 0.7767 0.5467 0.7675 0.8182 0.7463 hom 3951.98 117 19 44612005 . A G 3951.98 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4983;MQ=59.41;MQ0=0;QD=33.78;VQSLOD=6.8380;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3952,307,0 19 44612014 44612014 A T exonic ZNF224 synonymous SNV ZNF224:NM_001321645:exon6:c.A1701T:p.P567P,ZNF224:NM_013398:exon6:c.A1701T:p.P567P 0.59 0.41 0.51 0.54 0.81 0.69 0.7107 0.4599 0.4628 0.5428 0.7713 0.8150 0.7522 0.6821 0.7 0.46 0.82 0.58 0.89 rs3200505 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7072 0.4533 0.4709 0.7671 0.5480 0.7733 0.8236 0.7348 0.6858 0.6846 0.4535 0.5 0.7752 0.5499 0.7693 0.8184 0.7474 hom 4085.08 122 19 44612014 . A T 4085.08 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7552;MQ=59.43;MQ0=0;QD=33.48;VQSLOD=8.7998;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4085,316,0 19 44612231 44612231 A G exonic ZNF224 nonsynonymous SNV ZNF224:NM_001321645:exon6:c.A1918G:p.K640E,ZNF224:NM_013398:exon6:c.A1918G:p.K640E 0.6 0.47 0.53 0.54 0.81 0.69 0.7154 0.5153 0.4646 0.5432 0.7668 0.8153 0.7555 0.6805 0.71 0.51 0.82 0.64 0.89 rs3746319 . . . . . . . . . . . . . 0.624 0.052 T 0.03 0.186 B 0.021 0.181 B . . . 1 0.090 P 1.83 0.482 L 3.38 0.058 T -0.12 0.088 N 0.056 0.039 -1.038 0.178 T 0.000 0.000 T . . . 0.116 0.105 3.779 0.720 0.095 0.067 0.126 N c -1.269 -1.438 0.079 0.158 0.707 0.730 0 -4.31 0.034 -0.558 0.060 -0.007 0.133 0.000 0.063 0.001 0.043 9.908 0.404 Zinc finger C2H2-type/integrase DNA-binding domain ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8|ENSG00000178386.8 Adipose_Subcutaneous|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Prostate|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid 0.7109 0.5112 0.4727 0.7712 0.5475 0.7697 0.8238 0.7374 0.6850 0.7085 0.5239 0.5084 0.7815 0.5602 0.7673 0.8247 0.7520 hom 3558.92 106 19 44612231 . A G 3558.92 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6979;MQ=58.99;MQ0=0;QD=33.57;VQSLOD=8.8439;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3559,274,0 19 44652954 44652954 G A exonic ZNF234 nonsynonymous SNV ZNF234:NM_001144824:exon4:c.G46A:p.V16I,ZNF234:NM_006630:exon4:c.G46A:p.V16I 0.32 0.3 0.28 0.4 0.31 0.32 0.3399 0.2818 0.2405 0.4159 0.3999 0.3579 0.3667 0.3085 0.33 0.28 0.35 0.32 . rs2293587 COSM5905110 1(skin) . . . . . . . . . . . 0.097 0.309 T 0.183 0.275 B 0.096 0.288 B . . . 1.000 0.207 P 0.735 0.189 N 4.67 0.018 T -0.62 0.183 N 0.023 0.006 -0.974 0.365 T 0.000 0.000 T . . . 1.797 0.277 14.97 0.958 0.272 0.423 0.266 N c -0.501 -0.469 0.000 0.046 0.615 0.372 0 -1.13 0.092 1.057 0.299 0.879 0.385 0.973 0.343 1.000 0.888 5.080 0.139 Krueppel-associated box ENSG00000263002.3|ENSG00000263002.3 Esophagus_Mucosa|Testis 0.3403 0.2853 0.237 0.4023 0.4205 0.3997 0.3570 0.3539 0.3098 0.3522 0.2904 0.2458 0.4272 0.4485 0.4075 0.3686 0.3625 het 2800.34 250 19 44652954 . G A 2800.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.122;DP=250;DS;Dels=0.00;FS=3.562;HRun=0;HaplotypeScore=7.0705;MQ=59.16;MQ0=0;MQRankSum=1.144;QD=11.20;ReadPosRankSum=0.814;VQSLOD=4.7573;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:142,108:250:99:2830,0,4174 19 44660967 44660967 A G exonic ZNF234 synonymous SNV ZNF234:NM_001144824:exon6:c.A798G:p.G266G,ZNF234:NM_006630:exon6:c.A798G:p.G266G 0.57 0.94 0.47 0.49 0.37 0.42 0.4493 0.8551 0.4918 0.4905 0.4847 0.3826 0.4128 0.4030 0.53 0.84 0.37 0.64 . rs12609635 COSM5427143 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4437 0.8621 0.4822 0.3941 0.4870 0.4907 0.3762 0.4097 0.4002 0.5459 0.8571 0.4663 0.3907 0.5056 0.5037 0.3933 0.4397 het 4225.37 204 19 44660967 . A G 4225.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.230;DP=204;DS;Dels=0.00;FS=4.123;HRun=2;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;MQRankSum=-1.043;QD=20.71;ReadPosRankSum=-0.840;VQSLOD=4.4122;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,121:204:99:3656,0,2276 19 44739712 44739712 G C exonic ZNF227 nonsynonymous SNV ZNF227:NM_001289170:exon4:c.G892C:p.E298Q,ZNF227:NM_001289171:exon4:c.G892C:p.E298Q,ZNF227:NM_001289172:exon4:c.G838C:p.E280Q,ZNF227:NM_001289168:exon5:c.G976C:p.E326Q,ZNF227:NM_001289169:exon5:c.G976C:p.E326Q,ZNF227:NM_001289173:exon5:c.G1045C:p.E349Q,ZNF227:NM_001289166:exon6:c.G1129C:p.E377Q,ZNF227:NM_001289167:exon6:c.G976C:p.E326Q,ZNF227:NM_182490:exon6:c.G1129C:p.E377Q . . . . . . 0.0001 0 0.0003 0 0 0.0002 0 0 0.0002 . 0.0003 . . rs149831526 . . . . . . . . . . . . . 0.002 0.721 D 0.996 0.670 D 0.934 0.652 D . . . 0.981 0.251 N 1.96 0.533 M 1.77 0.258 T -2.54 0.553 D 0.12 0.134 -1.055 0.130 T 0.092 0.352 T 0.004 0.098 T 4.781 0.641 24.7 0.997 0.788 0.949 0.624 D c 0.266 0.182 0.043 0.146 0.672 0.522 0 1.28 0.206 5.339 0.655 1.030 0.653 1.000 0.715 1.000 0.888 6.077 0.190 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2;Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0001 0 0.0001 0 0 4.486e-05 0.0003 0 0 0.0001 0 0 0 0 0 0.0003 0 het 1150.63 88 19 44739712 . G C 1150.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.644;DP=88;Dels=0.00;FS=4.132;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;MQRankSum=-1.035;QD=13.08;ReadPosRankSum=0.918;VQSLOD=4.3240;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,43:88:99:1181,0,1227 19 44891784 44891784 T C exonic ZNF285 nonsynonymous SNV ZNF285:NM_001291491:exon3:c.A158G:p.N53S,ZNF285:NM_001291489:exon4:c.A623G:p.N208S,ZNF285:NM_152354:exon4:c.A623G:p.N208S,ZNF285:NM_001291488:exon5:c.A644G:p.N215S,ZNF285:NM_001291490:exon5:c.A158G:p.N53S 0.71 0.55 0.64 0.69 0.91 0.79 0.8262 0.6197 0.6200 0.6443 0.9317 0.9093 0.8392 0.8165 0.82 0.66 0.9 0.65 0.88 rs2571089 COSM5427149 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8224 0.6194 0.6220 0.8796 0.6501 0.9338 0.9107 0.8372 0.8180 0.8124 0.6347 0.6551 0.8808 0.6498 0.9290 0.9089 0.8796 hom 3824.34 113 19 44891784 . T C 3824.34 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=56.00;MQ0=0;QD=33.84;VQSLOD=5.4303;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3824,298,0 19 44932521 44932521 C T exonic ZNF229 nonsynonymous SNV ZNF229:NM_001278510:exon6:c.G2417A:p.R806Q,ZNF229:NM_014518:exon6:c.G2435A:p.R812Q 0.016 0.0098 0.023 . 0.044 0.0082 0.0242 0.0163 0.0235 0.0001 0.0118 0.0337 0.0234 0.0085 0.03 0.018 0.037 0.011 0.041 rs55700709 . . . . . . . . . . . . . . . . 0.809 0.434 P 0.031 0.206 B . . . 1 0.090 N 0.015 0.080 N . . . . . . 0.122 0.137 -1.021 0.235 T 0.005 0.017 T . . . 1.079 0.198 11.10 0.547 0.051 0.008 0.033 N c -0.923 -1.008 0.000 0.071 0.638 0.428 0 -0.27 0.122 -0.984 0.038 -0.603 0.044 0.000 0.063 0.030 0.147 1.917 0.031 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0243 0.0176 0.0251 0.0378 0.0001 0.0109 0.0343 0.0269 0.0094 0.0214 0.0153 0.0274 0.0530 0 0.0072 0.0292 0.0265 het 1515.57 111 19 44932521 . C T 1515.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.776;DP=111;Dels=0.00;FS=3.511;HRun=0;HaplotypeScore=0.9989;MQ=59.58;MQ0=0;MQRankSum=0.988;QD=13.65;ReadPosRankSum=0.540;VQSLOD=6.2745;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,54:111:99:1546,0,1445 19 44934489 44934489 G A exonic ZNF229 nonsynonymous SNV ZNF229:NM_001278510:exon6:c.C449T:p.S150F,ZNF229:NM_014518:exon6:c.C467T:p.S156F 0.89 0.97 0.96 0.7 0.89 0.91 0.8929 0.9592 0.9495 0.7179 0.8624 0.8998 0.8833 0.8904 0.92 0.96 0.9 0.89 0.87 rs2571174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8918 0.9590 0.9456 0.8528 0.7192 0.8599 0.9036 0.8908 0.8896 0.9073 0.9611 0.9391 0.8179 0.7264 0.8675 0.9066 0.8778 het 1602.84 149 19 44934489 . G A 1602.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.168;DP=149;Dels=0.00;FS=4.979;HRun=2;HaplotypeScore=1.6545;MQ=59.69;MQ0=0;MQRankSum=0.448;QD=10.76;ReadPosRankSum=0.283;VQSLOD=6.0571;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,68:149:99:1633,0,2106 19 44981375 44981375 T C exonic ZNF180 synonymous SNV ZNF180:NM_001278508:exon4:c.A1248G:p.Q416Q,ZNF180:NM_001288761:exon4:c.A294G:p.Q98Q,ZNF180:NM_001288762:exon4:c.A294G:p.Q98Q,ZNF180:NM_001278509:exon5:c.A1242G:p.Q414Q,ZNF180:NM_001288759:exon5:c.A1320G:p.Q440Q,ZNF180:NM_001291633:exon5:c.A1242G:p.Q414Q,ZNF180:NM_013256:exon5:c.A1323G:p.Q441Q,ZNF180:NM_001288760:exon7:c.A294G:p.Q98Q 0.16 0.15 0.17 0.002 0.34 0.15 0.2555 0.1943 0.1282 0.0003 0.3821 0.3312 0.2577 0.1603 0.28 0.2 0.32 0.15 0.25 rs954314 COSM1394471 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2525 0.1927 0.1297 0.2876 0.0009 0.3851 0.3308 0.2651 0.1639 0.2759 0.2024 0.1423 0.2767 0 0.3759 0.3309 0.3037 het 1426.07 118 19 44981375 . T C 1426.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.512;DP=118;Dels=0.00;FS=2.351;HRun=0;HaplotypeScore=0.8321;MQ=57.98;MQ0=0;MQRankSum=-0.038;QD=12.09;ReadPosRankSum=-1.937;VQSLOD=4.4225;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,55:118:99:1456,0,1665 19 44981525 44981525 G A exonic ZNF180 synonymous SNV ZNF180:NM_001278508:exon4:c.C1098T:p.S366S,ZNF180:NM_001288761:exon4:c.C144T:p.S48S,ZNF180:NM_001288762:exon4:c.C144T:p.S48S,ZNF180:NM_001278509:exon5:c.C1092T:p.S364S,ZNF180:NM_001288759:exon5:c.C1170T:p.S390S,ZNF180:NM_001291633:exon5:c.C1092T:p.S364S,ZNF180:NM_013256:exon5:c.C1173T:p.S391S,ZNF180:NM_001288760:exon7:c.C144T:p.S48S 0.13 0.046 0.055 0.35 0.11 0.11 0.1172 0.0649 0.0585 0.3376 0.1308 0.1032 0.1233 0.1267 0.091 0.067 0.1 0.14 0.098 rs2020083 COSM5427141 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1167 0.0621 0.0617 0.1223 0.3367 0.1350 0.1008 0.1133 0.1240 0.1041 0.0632 0.0706 0.1656 0.3352 0.1266 0.0974 0.1178 het 1137.20 76 19 44981525 . G A 1137.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.697;DP=76;Dels=0.00;FS=0.880;HRun=0;HaplotypeScore=1.9916;MQ=58.73;MQ0=0;MQRankSum=0.921;QD=14.96;ReadPosRankSum=0.584;VQSLOD=6.2822;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,44:76:99:1167,0,936 19 44981883 44981883 C G exonic ZNF180 nonsynonymous SNV ZNF180:NM_001278508:exon4:c.G740C:p.C247S,ZNF180:NM_001278509:exon5:c.G734C:p.C245S,ZNF180:NM_001288759:exon5:c.G812C:p.C271S,ZNF180:NM_001291633:exon5:c.G734C:p.C245S,ZNF180:NM_013256:exon5:c.G815C:p.C272S 0.43 0.62 0.29 0.42 0.46 0.27 0.4224 0.6016 0.2755 0.4427 0.5215 0.4379 0.4053 0.3013 0.48 0.59 0.43 0.47 0.34 rs1897820 COSM3724259 3(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4144 0.5977 0.2782 0.4130 0.4405 0.5273 0.4349 0.4100 0.3021 0.4801 0.5846 0.2871 0.4533 0.4310 0.5063 0.4317 0.4509 hom 3198.87 99 19 44981883 . C G 3198.87 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7675;MQ=59.37;MQ0=0;QD=32.31;VQSLOD=9.0803;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3232,250,0 19 44983567 44983567 C G exonic ZNF180 nonsynonymous SNV ZNF180:NM_001278508:exon3:c.G192C:p.W64C,ZNF180:NM_001278509:exon4:c.G186C:p.W62C,ZNF180:NM_001288759:exon4:c.G264C:p.W88C,ZNF180:NM_001291633:exon4:c.G186C:p.W62C,ZNF180:NM_013256:exon4:c.G267C:p.W89C 0.45 0.65 0.32 0.44 0.47 0.28 0.4347 0.6272 0.2856 0.4585 0.5275 0.4493 0.4174 0.3105 0.5 0.62 0.44 0.5 0.35 rs2253563 COSM4000789 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4259 0.6239 0.2879 0.4171 0.4536 0.5339 0.4470 0.4202 0.3113 0.4948 0.6093 0.3007 0.4570 0.4384 0.5141 0.4435 0.4653 hom 3684.69 111 19 44983567 . C G 3684.69 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5043;MQ=59.13;MQ0=0;QD=33.20;VQSLOD=6.7995;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3684,283,0 19 45001346 45001346 G A exonic ZNF180 nonsynonymous SNV ZNF180:NM_001278508:exon2:c.C122T:p.A41V,ZNF180:NM_001278509:exon2:c.C41T:p.A14V,ZNF180:NM_001288759:exon2:c.C119T:p.A40V,ZNF180:NM_001291633:exon2:c.C41T:p.A14V,ZNF180:NM_013256:exon2:c.C122T:p.A41V 0.26 0.15 0.18 0.36 0.39 0.24 0.3291 0.2004 0.1465 0.3483 0.4966 0.3729 0.3614 0.2807 0.3 0.2 0.36 0.27 0.29 rs2571108 COSM1394477 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3231 0.1937 0.1437 0.3585 0.3476 0.4932 0.3658 0.3335 0.2766 0.3278 0.2008 0.1492 0.3841 0.3377 0.4877 0.3690 0.3786 het 478.19 53 19 45001346 . G A 478.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.882;DP=53;Dels=0.00;FS=3.997;HRun=0;HaplotypeScore=0.0000;MQ=57.68;MQ0=0;MQRankSum=1.147;QD=9.02;ReadPosRankSum=-0.505;VQSLOD=4.6587;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:508,0,707 19 45016116 45016116 A G exonic CEACAM20 nonsynonymous SNV CEACAM20:NM_001102598:exon9:c.T1255C:p.C419R,CEACAM20:NM_001102599:exon9:c.T1255C:p.C419R,CEACAM20:NM_001102597:exon10:c.T1534C:p.C512R,CEACAM20:NM_001102600:exon10:c.T1534C:p.C512R 0.38 0.17 0.41 0.39 0.46 0.57 0.4841 0.2490 0.4966 0.3937 0.4045 0.5130 0.4734 0.5700 0.41 0.23 0.5 0.28 . rs8100718 COSN165847 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4475 0.2154 0.4307 0.4875 0.3611 0.3663 0.4844 0.4606 0.5423 0.3835 0.2221 0.4594 0.5067 0.3748 0.3598 0.4747 0.4206 het 282.30 22 19 45016116 . A G 282.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.013;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.171;QD=12.83;ReadPosRankSum=0.034;VQSLOD=11.7558;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,14:22:99:312,0,193 19 45017249 45017249 T C exonic CEACAM20 nonsynonymous SNV CEACAM20:NM_001102598:exon6:c.A1130G:p.Y377C,CEACAM20:NM_001102599:exon6:c.A1130G:p.Y377C,CEACAM20:NM_001102597:exon7:c.A1409G:p.Y470C,CEACAM20:NM_001102600:exon7:c.A1409G:p.Y470C 0.12 0.061 0.14 0.065 0.24 0.11 0.1846 0.0957 0.1511 0.0940 0.3184 0.2169 0.2110 0.1194 0.17 0.082 0.21 0.098 . rs1465723 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1838 0.0889 0.1508 0.0838 0.0930 0.3194 0.2216 0.1799 0.1151 0.1928 0.0910 0.1527 0.09 0.0807 0.3091 0.2394 0.2229 het 388.59 44 19 45017249 . T C 388.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.356;DP=44;Dels=0.00;FS=2.759;HRun=0;HaplotypeScore=0.8941;MQ=59.15;MQ0=0;MQRankSum=-1.253;QD=8.83;ReadPosRankSum=-0.943;VQSLOD=5.5986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,18:44:99:419,0,667 19 45024581 45024581 C G exonic CEACAM20 synonymous SNV CEACAM20:NM_001102597:exon5:c.G957C:p.T319T,CEACAM20:NM_001102598:exon5:c.G957C:p.T319T,CEACAM20:NM_001102599:exon5:c.G957C:p.T319T,CEACAM20:NM_001102600:exon5:c.G957C:p.T319T 0.37 0.14 0.43 0.27 0.64 0.49 0.5163 0.2221 0.3728 0.2306 0.6402 0.6212 0.5434 0.4661 0.49 0.23 0.62 0.32 . rs12982449 COSM4000791 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5151 0.2177 0.3779 0.5630 0.2257 0.6366 0.6241 0.5541 0.4692 0.4827 0.2255 0.3995 0.5 0.2425 0.6311 0.6234 0.5489 het 423.80 53 19 45024581 . C G 423.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.223;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=60.00;MQ0=0;MQRankSum=0.171;QD=8.00;ReadPosRankSum=-0.342;VQSLOD=5.8138;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,19:53:99:454,0,928 19 45028169 45028169 C T exonic CEACAM20 nonsynonymous SNV CEACAM20:NM_001102597:exon3:c.G322A:p.V108I,CEACAM20:NM_001102598:exon3:c.G322A:p.V108I,CEACAM20:NM_001102599:exon3:c.G322A:p.V108I,CEACAM20:NM_001102600:exon3:c.G322A:p.V108I 0.37 0.14 0.43 0.26 0.63 0.49 0.5340 0.2418 0.4105 0.2476 0.6446 0.6273 0.5507 0.4859 0.48 0.22 0.61 0.32 . rs7260180 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5113 0.2168 0.3748 0.5621 0.2176 0.6352 0.6191 0.5509 0.4663 0.4794 0.2239 0.4019 0.5 0.2357 0.6301 0.6188 0.5490 het 461.29 32 19 45028169 . C T 461.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.561;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;MQRankSum=-0.692;QD=14.42;ReadPosRankSum=0.929;VQSLOD=6.4771;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,17:32:99:491,0,405 19 45150614 45150614 G A exonic PVR nonsynonymous SNV PVR:NM_001135768:exon2:c.G199A:p.A67T,PVR:NM_001135769:exon2:c.G199A:p.A67T,PVR:NM_001135770:exon2:c.G199A:p.A67T,PVR:NM_006505:exon2:c.G199A:p.A67T 0.1 0.07 0.1 0.13 0.043 0.18 0.0900 0.0738 0.1315 0.1353 0.0679 0.0554 0.0992 0.1880 0.053 0.062 0.049 0.054 0.049 rs1058402 . . . . . . . . . . . . . 0.761 0.043 T 0.0 0.026 B 0.001 0.127 B 0.005 0.010 N 1.000 0.090 P -1.23 0.008 N -0.12 0.646 T 0.48 0.038 N 0.019 0.037 -1.097 0.044 T 0.000 0.001 T . . . -2.377 0.004 0.001 0.704 0.090 0.005 0.023 N c -2.590 -2.565 1.000 0.747 0.722 0.854 0 -9.59 0.005 -1.552 0.023 -2.165 0.004 0.000 0.063 0.000 0.016 4.553 0.114 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000186567.8 Artery_Tibial 0.0774 0.0611 0.1107 0.0835 0.1144 0.0479 0.0451 0.0627 0.1671 0.0513 0.0610 0.0943 0.1026 0.1037 0.0461 0.0379 0.0499 het 357 32 19 45150614 . G A 357 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.361;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.415;QD=11.16;ReadPosRankSum=0.000;VQSLOD=12.0380;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,15:32:99:387,0,555 19 45162038 45162038 A G exonic PVR nonsynonymous SNV PVR:NM_001135770:exon6:c.A1020G:p.I340M,PVR:NM_006505:exon6:c.A1020G:p.I340M 0.99 1. 0.98 1. 0.98 1. 0.9862 0.9954 0.9953 1 0.9967 0.9784 0.9956 0.9938 0.98 1. 0.98 0.98 0.97 rs203710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9868 0.9958 0.9952 0.9993 0.9999 0.9956 0.9763 0.9870 0.9935 0.9868 0.9948 0.9964 1 1 0.9969 0.9773 0.9919 hom 5227.30 161 19 45162038 . A G 5227.30 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=59.21;MQ0=0;QD=32.47;VQSLOD=9.6039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:5227,397,0 19 45179631 45179631 C T exonic CEACAM19 synonymous SNV CEACAM19:NM_001127893:exon3:c.C513T:p.A171A,CEACAM19:NM_020219:exon3:c.C513T:p.A171A 0.007 0.0008 0.019 . 0.013 0.0082 0.0127 0.0035 0.0042 0.0001 0.0082 0.0175 0.0143 0.0137 0.017 0.0048 0.023 0.011 0.025 rs76075198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0127 0.0041 0.0050 0.0035 0.0001 0.0084 0.0195 0.0108 0.0141 0.0112 0.0045 0.0036 0.0099 0 0.0083 0.0173 0.0143 het 1591.73 126 19 45179631 . C T 1591.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.660;DP=126;Dels=0.00;FS=3.222;HRun=0;HaplotypeScore=6.5632;MQ=58.81;MQ0=0;MQRankSum=-1.262;QD=12.63;ReadPosRankSum=0.590;VQSLOD=4.1014;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:64,61:126:99:1622,0,1714 19 45211407 45211407 C T exonic CEACAM16 synonymous SNV CEACAM16:NM_001039213:exon6:c.C1215T:p.T405T 0.11 0.011 0.045 0.23 0.16 0.11 0.1725 0.0386 0.0632 0.3103 0.2802 0.1857 0.1628 0.1294 0.1 0.032 0.14 0.14 . rs61744497 . . Benign not_specified RCV000218806.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1356 0.0281 0.0451 0.1585 0.2673 0.2194 0.1470 0.1199 0.1060 0.1254 0.0297 0.0704 0.1667 0.2670 0.2069 0.1475 0.1497 het 119.21 21 19 45211407 . C T 119.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.774;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.89;MQ0=0;MQRankSum=1.823;QD=5.68;ReadPosRankSum=0.396;VQSLOD=5.0831;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,7:21:99:149,0,362 19 45389224 45389224 A G exonic NECTIN2 synonymous SNV NECTIN2:NM_001042724:exon7:c.A1227G:p.P409P 0.97 1. 0.95 1. 0.91 0.98 0.9503 0.9877 0.9587 0.9999 0.9493 0.9312 0.9256 0.9755 0.95 0.98 0.93 0.98 0.94 rs283814 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9492 0.9879 0.9560 0.9604 0.9999 0.9510 0.9265 0.9403 0.9737 0.9529 0.9870 0.9535 0.9503 1 0.9490 0.9293 0.9449 hom 6401.08 221 19 45389224 . A G 6401.08 Mask AC=2;AF=1.00;AN=2;DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4580;MQ=58.72;MQ0=0;QD=28.96;VQSLOD=7.6495;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:6400,514,0 19 45448036 45448036 T C exonic APOC4 nonsynonymous SNV APOC4:NM_001646:exon2:c.T107C:p.L36P 0.66 0.73 0.72 0.73 0.5 0.64 0.5921 0.7238 0.7846 0.6917 0.5749 0.5175 0.5597 0.6326 0.58 0.72 0.51 0.72 0.53 rs1132899 COSM4132109 1(skin);1(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.624 0.058 N 1 0.090 P -0.75 0.017 N 1.87 0.241 T . . . 0.007 0.002 -1.000 0.300 T 0.000 0.000 T . . . -1.362 0.020 0.004 0.556 0.053 0.002 0.013 N c -1.984 -2.063 1.000 0.423 0.554 0.283 0 -4.88 0.029 -1.984 0.016 -3.077 0.001 0.000 0.063 0.000 0.016 6.313 0.203 . ENSG00000130203.5 Lung 0.5878 0.7159 0.7698 0.4805 0.6910 0.5676 0.5050 0.5505 0.6220 0.5963 0.7146 0.7249 0.4735 0.7016 0.5722 0.5198 0.5543 hom 457.07 18 19 45448036 . T C 457.07 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57.18;MQ0=0;QD=25.39;VQSLOD=7.8101;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:39.11:490,39,0 19 45448465 45448465 T G exonic APOC4 nonsynonymous SNV APOC4:NM_001646:exon3:c.T287G:p.L96R 0.44 0.46 0.46 0.57 0.37 0.34 0.3892 0.4515 0.4623 0.5183 0.4270 0.3637 0.4075 0.3179 0.39 0.46 0.36 0.43 0.43 rs5167 COSM4132110 2(thyroid) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.014 0.286 N 1 0.090 P -1.625 0.004 N 2.23 0.181 T . . . 0.081 0.074 -0.948 0.414 T 0.000 0.000 T . . . -1.209 0.025 0.006 0.575 0.057 0.000 0.003 N c -1.602 -1.482 0.999 0.386 0.554 0.283 0 2.07 0.259 1.179 0.314 0.099 0.198 0.047 0.211 0.151 0.205 4.636 0.118 . ENSG00000130203.5|ENSG00000130208.5|ENSG00000104853.11 Lung|Lung|Testis 0.3933 0.4518 0.4716 0.3668 0.5208 0.4309 0.3592 0.3794 0.3154 0.4054 0.4532 0.4689 0.3576 0.5377 0.4337 0.3554 0.3845 hom 7634.36 243 19 45448465 . T G 7634.36 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.703;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9272;MQ=59.30;MQ0=0;MQRankSum=-0.352;QD=31.42;ReadPosRankSum=0.539;VQSLOD=6.8768;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,240:243:99:7570,629,0 19 45476422 45476422 T C exonic CLPTM1 synonymous SNV CLPTM1:NM_001282175:exon3:c.T222C:p.A74A,CLPTM1:NM_001294:exon3:c.T264C:p.A88A 0.9 0.81 0.87 0.93 0.97 0.96 0.9426 0.8447 0.8862 0.9285 0.9711 0.9640 0.9503 0.9526 0.92 0.85 0.96 0.73 0.82 rs204481 COSM4132111;COSM4132112 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9417 0.8428 0.8886 0.9782 0.9317 0.9694 0.9608 0.9479 0.9529 0.9273 0.8471 0.9153 0.9702 0.9476 0.9665 0.9605 0.9551 hom 2088.43 65 19 45476422 . T C 2088.43 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7623;MQ=58.57;MQ0=0;QD=32.13;VQSLOD=8.9624;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2121,175,0 19 45490570 45490570 A G exonic CLPTM1 synonymous SNV CLPTM1:NM_001282175:exon8:c.A885G:p.P295P,CLPTM1:NM_001282176:exon8:c.A621G:p.P207P,CLPTM1:NM_001294:exon8:c.A927G:p.P309P 0.43 0.48 0.42 0.53 0.34 0.34 0.3664 0.4789 0.4509 0.4780 0.3808 0.3325 0.3838 0.3084 0.38 0.48 0.32 0.39 0.39 rs3786505 COSM3721275;COSM3721276 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3697 0.4802 0.4545 0.3782 0.4819 0.3856 0.3256 0.3623 0.3068 0.3924 0.4821 0.4761 0.3642 0.5012 0.3933 0.3270 0.3487 hom 6293.17 192 19 45490570 . A G 6293.17 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.514;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6227;MQ=59.52;MQ0=0;MQRankSum=0.698;QD=32.78;ReadPosRankSum=0.082;VQSLOD=9.7475;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,191:192:99:6264,480,0 19 45537779 45537779 C T exonic RELB unknown UNKNOWN 0.006 0.0008 0.0029 . 0.0099 0.017 0.0186 0.0034 0.0050 0.0005 0.0165 0.0229 0.0077 0.0263 0.012 0.0036 0.016 . . rs2230682 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0119 0.0024 0.0029 0.0164 0.0002 0.0098 0.0152 0.0122 0.0212 0.0079 0.0018 0.0048 0.0132 0 0.0077 0.0125 0.0061 het 144.15 20 19 45537779 . C T 144.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.763;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;MQRankSum=0.784;QD=7.21;ReadPosRankSum=-1.031;VQSLOD=4.3802;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,6:20:99:174,0,376 19 45561063 45561063 A G exonic CLASRP nonsynonymous SNV CLASRP:NM_001278439:exon6:c.A334G:p.K112E,CLASRP:NM_007056:exon7:c.A520G:p.K174E 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs4803794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9999 1 1.0000 1 1 1.0000 0.9999 1 1 1 1 1 1 hom 4859.14 156 19 45561063 . A G 4859.14 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9557;MQ=59.56;MQ0=0;QD=31.15;VQSLOD=9.4140;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:4858,391,0 19 45575663 45575663 T G exonic ZNF296 synonymous SNV ZNF296:NM_145288:exon3:c.A624C:p.A208A 0.01 0.015 0.0043 . 0.0099 0.017 0.0133 0.0145 0.0041 0.0002 0.0097 0.0151 0.0070 0.0205 . . . . 0.016 rs61753954 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0124 0.0146 0.0036 0.0166 0.0002 0.0089 0.0147 0.0119 0.0207 0.0102 0.0125 0.0048 0.0132 0 0.0069 0.0111 0.0071 het 694.07 49 19 45575663 . T G 694.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.356;DP=49;Dels=0.00;FS=8.333;HRun=1;HaplotypeScore=3.6929;MQ=59.05;MQ0=0;MQRankSum=-0.290;QD=14.16;ReadPosRankSum=0.751;VQSLOD=4.0553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,26:49:99:724,0,698 19 45655333 45655333 T C exonic NKPD1 nonsynonymous SNV NKPD1:NM_198478:exon4:c.A2362G:p.R788G 0.083 0.051 0.091 0.058 0.11 0.12 0.1185 0.0608 0.1373 0.0683 0.2424 0.1109 0.1277 0.1444 0.064 0.039 0.074 0.054 0.057 rs28469095 . . . . . . . . . . . . . 0.796 0.114 T 0.0 0.026 B 0.0 0.013 B 0.002 0.008 N 1 0.090 P -1.39 0.006 N 0.95 0.437 T 0.23 0.046 N 0.007 0.004 -1.083 0.068 T 0.001 0.003 T . . . -0.763 0.042 0.052 0.774 0.115 0.004 0.018 N c -1.810 -1.817 1.000 0.747 0.598 0.340 0 -7.79 0.011 -4.152 0.003 -1.375 0.012 0.000 0.063 0.000 0.016 3.547 0.073 . . . 0.1068 0.0493 0.1164 0.0765 0.0549 0.2022 0.0961 0.0953 0.1348 0.0973 0.0528 0.1146 0.0695 0.0565 0.1844 0.1047 0.1311 het 166.96 16 19 45655333 . T C 166.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.588;DP=16;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.847;QD=10.43;ReadPosRankSum=-1.059;VQSLOD=10.5712;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,7:16:99:197,0,264 19 45801018 45801018 T C exonic MARK4 synonymous SNV MARK4:NM_001199867:exon15:c.T1683C:p.R561R,MARK4:NM_031417:exon15:c.T1683C:p.R561R 1. 1. 0.99 1. 0.99 1. 0.9904 0.9985 0.9965 0.9999 0.9931 0.9852 0.9968 0.9960 0.99 1. 0.99 1. 0.69 rs173179 COSM3756952;COSM3756951 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9909 0.9983 0.9949 0.9904 0.9999 0.9936 0.9852 0.9915 0.9956 0.9901 0.9976 0.9928 0.9834 1 0.9948 0.9838 0.9855 hom 470.20 19 19 45801018 . T C 470.20 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=24.75;VQSLOD=13.1595;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:39.12:503,39,0 19 45810035 45810035 A G exonic CKM synonymous SNV CKM:NM_001824:exon8:c.T1119C:p.I373I 0.6 0.83 0.43 0.27 0.69 0.64 0.6475 0.8159 0.3372 0.2406 0.7551 0.7111 0.6410 0.6720 0.75 0.82 0.71 0.64 0.66 rs4884 COSM3766376 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6329 0.8151 0.3586 0.6792 0.2364 0.7475 0.7122 0.6520 0.6746 0.7176 0.8189 0.4069 0.6589 0.2197 0.7411 0.7272 0.6847 het 2768.99 249 19 45810035 . A G 2768.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.293;DP=249;DS;Dels=0.00;FS=4.744;HRun=0;HaplotypeScore=5.8429;MQ=58.94;MQ0=0;MQRankSum=1.115;QD=11.12;ReadPosRankSum=0.406;VQSLOD=4.9574;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,114:249:99:2799,0,3734 19 45818835 45818835 A G exonic CKM synonymous SNV CKM:NM_001824:exon4:c.T369C:p.P123P 0.41 0.3 0.34 0.24 0.63 0.54 0.5459 0.3467 0.2993 0.2354 0.7175 0.6320 0.5490 0.5858 0.54 0.35 0.63 0.36 0.5 rs1133190 COSM292301 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5333 0.3340 0.3190 0.5940 0.2295 0.7031 0.6299 0.5411 0.5825 0.5387 0.3471 0.3469 0.5633 0.2519 0.7014 0.6486 0.6121 het 464.37 55 19 45818835 . A G 464.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.894;DP=55;Dels=0.00;FS=1.072;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.469;QD=8.44;ReadPosRankSum=-0.717;VQSLOD=5.8784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,19:55:99:494,0,939 19 45849909 45849909 A G exonic KLC3 synonymous SNV KLC3:NM_177417:exon3:c.A366G:p.E122E 0.2 0.081 0.19 0.087 0.33 0.33 0.3879 0.1735 0.3382 0.1454 0.5963 0.4514 0.3061 0.3584 0.23 0.11 0.29 0.16 0.033 rs9749618 COSM1394587 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2928 0.1166 0.1901 0.3753 0.0794 0.3958 0.3368 0.3107 0.3425 0.2688 0.1218 0.2076 0.3609 0.0830 0.3876 0.3450 0.3200 het 288.59 17 19 45849909 . A G 288.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.685;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.158;QD=16.98;ReadPosRankSum=0.264;VQSLOD=11.7603;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,12:17:99:319,0,118 19 45854919 45854919 T G exonic ERCC2 nonsynonymous SNV ERCC2:NM_000400:exon23:c.A2251C:p.K751Q 0.24 0.19 0.21 0.076 0.36 0.35 0.3308 0.2262 0.1870 0.0757 0.4133 0.3865 0.3 0.3738 0.33 0.24 0.37 0.23 0.34 rs13181 COSM4132125 14(soft_tissue);1(skin);1(thyroid) Benign|Benign|not provided|not provided not_specified|Xeroderma_pigmentosum|Non-small_cell_lung_cancer|Osteosarcoma RCV000120777.2|RCV000282755.1|RCV000418924.1|RCV000436606.1 MedGen|MedGen:Orphanet:SNOMED_CT|MeSH:MedGen:SNOMED_CT|MeSH:MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043346:ORPHA910:44600005|D002289:C0007131:254637007|D012516:C0029463:259500:ORPHA668:21708004 . . . . . . 0.582 0.059 T 0.0 0.026 B 0.0 0.040 B 0.200 0.166 N 1 0.090 P -0.165 0.043 N -1.42 0.825 T -0.94 0.251 N 0.075 0.065 -1.087 0.061 T 0.000 0.000 T . . . 0.982 0.188 10.56 0.632 0.070 0.024 0.067 N c -0.788 -0.643 0.833 0.247 0.707 0.730 0 4.29 0.502 1.271 0.325 0.127 0.214 0.995 0.385 0.068 0.175 11.392 0.489 . ENSG00000104884.10|ENSG00000104884.10|ENSG00000104892.12|ENSG00000104884.10|ENSG00000104884.10|ENSG00000007047.10|ENSG00000104892.12|ENSG00000104892.12|ENSG00000104884.10 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.3262 0.2255 0.1986 0.4207 0.0746 0.4103 0.3790 0.3440 0.3712 0.3203 0.2284 0.2273 0.4172 0.0749 0.4037 0.3817 0.3579 het 2444.71 247 19 45854919 . T G 2444.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.116;DP=247;DS;Dels=0.00;FS=9.674;HRun=0;HaplotypeScore=7.7554;MQ=59.38;MQ0=0;MQRankSum=0.264;QD=9.90;ReadPosRankSum=-1.546;VQSLOD=3.5644;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:155,92:247:99:2475,0,4239 19 45855524 45855524 G A exonic ERCC2 synonymous SNV ERCC2:NM_000400:exon22:c.C2133T:p.D711D 0.18 0.073 0.15 0.062 0.34 0.32 0.2859 0.1033 0.1384 0.0649 0.3910 0.3466 0.2661 0.3341 0.26 0.11 0.33 0.16 0.19 rs1052555 COSM3756953 13(soft_tissue);1(large_intestine) Benign|Benign not_specified|Xeroderma_pigmentosum RCV000249244.1|RCV000334441.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0043346:ORPHA910:44600005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2834 0.1010 0.1528 0.3791 0.0645 0.3850 0.3383 0.3014 0.3324 0.2615 0.1083 0.1794 0.3709 0.0630 0.3814 0.3434 0.3088 het 1042 81 19 45855524 . G A 1042 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.615;DP=81;Dels=0.00;FS=1.043;HRun=0;HaplotypeScore=1.7480;MQ=59.31;MQ0=0;MQRankSum=-0.534;QD=12.86;ReadPosRankSum=-0.165;VQSLOD=6.4348;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,39:81:99:1072,0,1013 19 45868309 45868309 T G exonic ERCC2 synonymous SNV ERCC2:NM_001130867:exon5:c.A396C:p.R132R,ERCC2:NM_000400:exon6:c.A468C:p.R156R 0.64 0.94 0.49 0.49 0.55 0.58 0.5898 0.8762 0.5212 0.5167 0.5889 0.5646 0.5561 0.5987 0.66 0.87 0.56 0.76 0.52 rs238406 . . Benign|Benign not_specified|Xeroderma_pigmentosum RCV000242247.1|RCV000323397.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0043346:ORPHA910:44600005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5795 0.8789 0.5185 0.6039 0.5118 0.5946 0.5577 0.5582 0.5995 0.6449 0.8673 0.5143 0.6060 0.5068 0.5899 0.5556 0.5717 hom 1595.19 48 19 45868309 . T G 1595.19 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=33.23;VQSLOD=9.4122;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1628,126,0 19 45912490 45912492 AAG - exonic CD3EAP nonframeshift deletion CD3EAP:NM_001297590:exon3:c.1270_1272del:p.K430del,CD3EAP:NM_012099:exon3:c.1264_1266del:p.K428del . . . . . . 0.2366 0.1242 0.1815 0.0564 0.1894 0.2694 0.2409 0.3187 0.21 0.12 0.26 . . rs374686338 COSM1481223 1(soft_tissue);1(kidney);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2383 0.1165 0.1828 0.3100 0.0376 0.1981 0.2775 0.2666 0.3010 0.1623 0.0811 0.1319 0.2363 0.0124 0.1997 0.2173 0.1870 het 400.31 38 19 45912489 . CAAG C 400.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.266;DP=38;FS=0.000;HRun=0;HaplotypeScore=143.8195;MQ=58.05;MQ0=0;MQRankSum=0.591;QD=10.53;ReadPosRankSum=1.877;set=variant2 GT:AD:DP:GQ:PL 0/1:26,12:38:99:439,0,724 19 45912736 45912736 C A exonic CD3EAP nonsynonymous SNV CD3EAP:NM_001297590:exon3:c.C1516A:p.Q506K,CD3EAP:NM_012099:exon3:c.C1510A:p.Q504K 0.3 0.29 0.35 0.3 0.25 0.3 0.3237 0.3510 0.4799 0.3576 0.2828 0.2887 0.3167 0.3303 0.26 0.29 0.25 0.29 0.082 rs3212986 COSM4985714 6(soft_tissue) drug response|drug response|drug response Platinum_compounds_response_-_Toxicity/ADR|cisplatin_response_-_Toxicity/ADR|platinum_response_-_Toxicity/ADR RCV000211219.1|RCV000211315.1|RCV000211398.1 MedGen|MedGen|MedGen CN236514|CN236502|CN236615 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.645 0.106 N 1.000 0.090 P -1.59 0.004 N 3.03 0.089 T 1.43 0.008 N 0.026 0.008 -0.910 0.468 T 0.000 0.000 T . . . -1.153 0.027 0.008 0.528 0.047 0.009 0.035 N c -1.790 -1.689 0.999 0.396 0.672 0.522 0 2.68 0.307 -1.507 0.024 -0.287 0.084 0.000 0.063 0.002 0.062 5.643 0.167 . ENSG00000012061.11|ENSG00000104892.12|ENSG00000012061.11 Cells_Transformed_fibroblasts|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.2901 0.3087 0.4184 0.2574 0.3208 0.2281 0.2529 0.2773 0.3033 0.2657 0.2955 0.3935 0.26 0.3470 0.2225 0.2443 0.2408 het 120.95 11 19 45912736 . C A 120.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.143;DP=11;Dels=0.00;FS=3.424;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=0.143;QD=11.00;ReadPosRankSum=-1.532;VQSLOD=6.0519;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:151,0,156 19 45923653 45923653 A G exonic ERCC1 synonymous SNV ERCC1:NM_202001:exon3:c.T354C:p.N118N,ERCC1:NM_001166049:exon4:c.T354C:p.N118N,ERCC1:NM_001983:exon4:c.T354C:p.N118N 0.67 0.96 0.61 0.74 0.38 0.54 0.5085 0.8872 0.7284 0.7365 0.3724 0.3854 0.4658 0.5387 0.54 0.87 0.37 0.76 0.42 rs11615 . . drug response|drug response|drug response|drug response|drug response|Benign platinum_response_-_Efficacy\x2c_Toxicity/ADR|carboplatin_response_-_Efficacy\x2c_Toxicity/ADR|Platinum_compounds_response_-_Efficacy\x2c_Toxicity/ADR|cisplatin_response_-_Efficacy\x2c_Toxicity/ADR|oxaliplatin_response_-_Efficacy\x2c_Toxicity/ADR|Xeroderma_pigmentosum RCV000211176.1|RCV000211179.1|RCV000211295.1|RCV000211304.1|RCV000211427.1|RCV000407425.1 MedGen|MedGen|MedGen|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN236574|CN236496|CN236513|CN236501|CN236570|C0043346:ORPHA910:44600005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4990 0.8930 0.7070 0.4132 0.7342 0.3621 0.3745 0.4566 0.5288 0.5425 0.875 0.6691 0.4338 0.7413 0.3622 0.3723 0.4187 het 873.11 73 19 45923653 . A G 873.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.208;DP=73;Dels=0.00;FS=0.899;HRun=0;HaplotypeScore=1.9983;MQ=58.65;MQ0=0;MQRankSum=0.248;QD=11.96;ReadPosRankSum=-0.943;VQSLOD=6.3336;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,37:73:99:903,0,900 19 45971961 45971961 C G exonic FOSB synonymous SNV FOSB:NM_001114171:exon1:c.C117G:p.A39A,FOSB:NM_006732:exon1:c.C117G:p.A39A 0.4 0.64 0.19 0.23 0.34 0.45 0.3422 0.5766 0.1557 0.2499 0.3502 0.3288 0.3393 0.4337 0.4 0.55 0.32 0.46 0.26 rs2282695 COSM5438326 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3285 0.5775 0.1673 0.2718 0.2376 0.3516 0.3267 0.3216 0.4296 0.3935 0.5706 0.1926 0.2815 0.2298 0.3479 0.3354 0.3437 hom 1968.94 69 19 45971961 . C G 1968.94 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3039;MQ=57.73;MQ0=0;QD=28.54;VQSLOD=6.9662;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2002,162,0 19 45998247 45998247 A G exonic RTN2 synonymous SNV RTN2:NM_005619:exon3:c.T96C:p.S32S,RTN2:NM_206900:exon3:c.T96C:p.S32S 0.15 0.15 0.13 0.22 0.098 0.16 0.1322 0.1424 0.1931 0.2024 0.1190 0.1060 0.1493 0.1564 0.12 0.14 0.1 0.098 0.11 rs10401270 COSM4416034 2(haematopoietic_and_lymphoid_tissue) other not_specified RCV000118192.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1305 0.1412 0.1777 0.1007 0.2051 0.1133 0.1032 0.1100 0.1562 0.1277 0.1419 0.1734 0.1167 0.2194 0.1188 0.1089 0.1332 het 1911.84 154 19 45998247 . A G 1911.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.548;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6711;MQ=58.72;MQ0=0;MQRankSum=-1.328;QD=12.41;ReadPosRankSum=0.847;VQSLOD=5.6200;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,81:154:99:1942,0,1856 19 46057081 46057081 A G exonic OPA3 synonymous SNV OPA3:NM_025136:exon2:c.T231C:p.A77A 0.77 0.78 0.81 0.89 0.66 0.7 0.7076 0.7710 0.8386 0.8758 0.7671 0.6538 0.7300 0.6794 0.68 0.76 0.64 0.76 0.52 rs3826860 COSM439792 1(liver);1(thyroid);1(large_intestine) Benign|other|Likely benign|Benign|Benign Optic_atrophy_and_cataract\x2c_autosomal_dominant|not_specified|not_provided|Optic_Atrophy\x2c_Dominant|3-Methylglutaconic_aciduria_type_3 RCV000020908.1|RCV000082252.9|RCV000132683.1|RCV000288721.1|RCV000400863.1 MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT C1833809:165300:ORPHA67036|CN169374|CN221809|CN239213|C0574084:258501:ORPHA67047:297232009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7093 0.7765 0.8306 0.5857 0.8739 0.7548 0.6489 0.6873 0.6782 0.7101 0.7694 0.8038 0.5967 0.8781 0.7569 0.6424 0.7291 het 740.15 64 19 46057081 . A G 740.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.799;DP=64;Dels=0.00;FS=2.216;HRun=1;HaplotypeScore=0.7887;MQ=59.35;MQ0=0;MQRankSum=0.034;QD=11.56;ReadPosRankSum=0.296;VQSLOD=6.1134;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,29:64:99:770,0,909 19 46133251 46133251 C T exonic EML2 synonymous SNV EML2:NM_012155:exon7:c.G564A:p.S188S,EML2:NM_001193268:exon10:c.G1167A:p.S389S,EML2:NM_001193269:exon10:c.G1005A:p.S335S 0.13 0.16 0.13 0.1 0.11 0.13 0.1243 0.1558 0.1611 0.0951 0.0714 0.1218 0.1024 0.1266 0.14 0.15 0.13 0.11 0.09 rs7251952 COSM4785216;COSM4785217;COSM3756955 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1248 0.1557 0.1575 0.1375 0.1002 0.0734 0.1218 0.1296 0.1305 0.1247 0.1565 0.1328 0.1689 0.0955 0.0738 0.1211 0.1057 het 1162.28 106 19 46133251 . C T 1162.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.204;DP=106;Dels=0.00;FS=3.634;HRun=0;HaplotypeScore=0.8941;MQ=59.43;MQ0=0;MQRankSum=1.280;QD=10.96;ReadPosRankSum=0.180;VQSLOD=6.1539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,43:106:99:1192,0,1518 19 46133256 46133256 G A exonic EML2 nonsynonymous SNV EML2:NM_012155:exon7:c.C559T:p.L187F,EML2:NM_001193268:exon10:c.C1162T:p.L388F,EML2:NM_001193269:exon10:c.C1000T:p.L334F 0.13 0.16 0.13 0.1 0.11 0.13 0.1254 0.1593 0.1614 0.0950 0.0714 0.1232 0.1035 0.1265 0.14 0.15 0.13 0.11 0.09 rs7252175 COSM3756956;COSM4785186;COSM4785187 1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.999 0.916 D 0.000 0.629 D 0.000 0.588 P 3.205 0.894 M 0.75 0.502 T -3.41 0.671 D 0.277 0.443 -1.012 0.262 T 0.001 0.003 T . . . 5.567 0.757 26.4 0.999 0.972 0.931 0.570 D c 0.739 0.639 1.000 0.747 0.742 0.980 0 4.74 0.596 3.375 0.519 0.992 0.602 1.000 0.715 0.998 0.697 15.269 0.733 Quinoprotein alcohol dehydrogenase-like superfamily|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000125746.10 Cells_Transformed_fibroblasts 0.1258 0.1598 0.1580 0.1398 0.1002 0.0736 0.1232 0.1298 0.1302 0.1266 0.1614 0.1328 0.1722 0.0954 0.0734 0.1222 0.1080 het 1081.33 104 19 46133256 . G A 1081.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.893;DP=104;Dels=0.00;FS=3.724;HRun=1;HaplotypeScore=0.8941;MQ=59.64;MQ0=0;MQRankSum=1.607;QD=10.40;ReadPosRankSum=0.195;VQSLOD=6.1896;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,42:104:99:1111,0,1531 19 46141845 46141845 T C exonic EML2 nonsynonymous SNV EML2:NM_012155:exon3:c.A97G:p.M33V,EML2:NM_001193268:exon6:c.A700G:p.M234V,EML2:NM_001193269:exon6:c.A538G:p.M180V 0.086 0.0061 0.12 0.1 0.11 0.13 0.1140 0.0250 0.1579 0.0975 0.0715 0.1239 0.0993 0.1254 0.097 0.028 0.13 0.054 0.082 rs12151009 . . . . . . . . . . . . . 0.008 0.586 D 0.061 0.217 B 0.102 0.293 B 0.078 0.211 N 1.000 0.186 P 0.895 0.225 L 1.7 0.269 T -0.67 0.193 N 0.022 0.016 -1.041 0.170 T 0.000 0.002 T . . . 1.718 0.268 14.51 0.879 0.170 0.584 0.304 D c -0.839 -0.761 1.000 0.747 0.543 0.218 0 -4.54 0.032 2.242 0.425 -0.392 0.064 1.000 0.715 0.978 0.483 3.801 0.082 HELP;Quinoprotein alcohol dehydrogenase-like superfamily|WD40/YVTN repeat-like-containing domain;WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000125746.10 Cells_Transformed_fibroblasts 0.1166 0.0237 0.1516 0.1397 0.1024 0.0736 0.1237 0.1233 0.1297 0.0894 0.0295 0.1253 0.1722 0.0969 0.0733 0.1228 0.0998 het 1640.31 122 19 46141845 . T C 1640.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.735;DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2859;MQ=59.66;MQ0=0;MQRankSum=-0.257;QD=13.45;ReadPosRankSum=0.766;VQSLOD=6.5400;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,57:122:99:1670,0,1705 19 46181392 46181392 G C exonic GIPR nonsynonymous SNV GIPR:NM_001308418:exon11:c.G952C:p.E318Q,GIPR:NM_000164:exon12:c.G1060C:p.E354Q 0.16 0.12 0.13 0.21 0.21 0.14 0.2019 0.1227 0.1053 0.2236 0.2746 0.2332 0.2083 0.1505 0.17 0.11 0.2 0.18 0.18 rs1800437 COSM4132137;COSM4132138 8(soft_tissue);1(thyroid) . . . . . Obesity 0.91 . 23563607 rs1800437 3E-14 0.004 0.682 D 0.993 0.899 D 0.904 0.916 P 0.000 0.466 D 0.021 0.395 P 2.63 0.772 M 0.9 0.453 T -2.4 0.558 N 0.093 0.155 -1.097 0.045 T 0.000 0.001 T . . . 4.932 0.663 25.0 0.997 0.810 0.791 0.389 D c 0.450 0.358 1.000 0.747 0.767 0.994 0 3.14 0.350 2.821 0.475 0.881 0.386 1.000 0.715 1.000 0.888 11.062 0.470 GPCR\x2c family 2-like . . 0.1825 0.1097 0.0971 0.2917 0.2084 0.2334 0.2062 0.1876 0.1412 0.1898 0.1185 0.1181 0.3411 0.1979 0.2444 0.2147 0.2495 het 250.16 20 19 46181392 . G C 250.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.836;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=-0.532;QD=12.51;ReadPosRankSum=-1.671;VQSLOD=5.0835;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,9:20:99:280,0,319 19 46216642 46216642 G T exonic FBXO46 nonsynonymous SNV FBXO46:NM_001080469:exon2:c.C112A:p.P38T,FBXO46:NM_001329632:exon2:c.C112A:p.P38T,FBXO46:NM_001329633:exon2:c.C112A:p.P38T,FBXO46:NM_001329634:exon2:c.C112A:p.P38T 0.12 0.11 0.14 0.083 0.11 0.15 0.1260 0.1205 0.1349 0.0666 0.1430 0.1253 0.1124 0.1509 0.12 0.12 0.12 0.065 . rs11537711 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 0.997 0.229 P -0.345 0.033 N . . . 0.41 0.034 N 0.038 0.018 -1.012 0.263 T 0.001 0.002 T . . . -3.019 0.001 0.001 0.033 0.000 0.090 0.147 N c -1.458 -1.491 1.000 0.489 0.672 0.522 0 -2.8 0.054 -0.713 0.051 0.109 0.204 0.000 0.063 0.870 0.364 0.581 0.007 . . . 0.1243 0.1181 0.1283 0.0606 0.0648 0.1464 0.1256 0.1455 0.1521 0.1240 0.1232 0.1301 0.0530 0.0691 0.1432 0.1251 0.1548 het 447.55 31 19 46216642 . G T 447.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.273;DP=31;Dels=0.00;FS=3.988;HRun=0;HaplotypeScore=0.9469;MQ=57.88;MQ0=0;MQRankSum=-0.573;QD=14.44;ReadPosRankSum=-1.364;VQSLOD=4.5295;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,16:31:99:478,0,465 19 46268902 46268902 C T exonic SIX5 nonsynonymous SNV SIX5:NM_175875:exon3:c.G2077A:p.V693M 0.3 0.33 0.23 0.29 0.32 0.28 0.3206 0.3161 0.2087 0.2745 0.3100 0.3549 0.3605 0.2905 0.34 0.3 0.36 0.28 0.3 rs2341097 COSM439801 1(pancreas);1(liver);1(large_intestine) Benign not_specified RCV000252448.1 MedGen CN169374 . . . . . . 0.032 0.446 D 0.63 0.383 P 0.169 0.336 B 0.663 0.060 N 0.998 0.228 P 0 0.065 N -2.82 0.912 D -0.27 0.114 N 0.139 0.162 -1.097 0.044 T 0.000 0.000 T . . . 4.805 0.645 24.8 0.992 0.537 0.416 0.264 N c -0.286 -0.235 1.000 0.446 0.635 0.413 0 3.14 0.350 -0.079 0.112 0.768 0.311 0.000 0.063 0.873 0.365 9.094 0.356 . ENSG00000185800.7|ENSG00000185800.7|ENSG00000185800.7|ENSG00000267395.1|ENSG00000185800.7|ENSG00000185800.7|ENSG00000185800.7|ENSG00000185800.7|ENSG00000267395.1|ENSG00000177045.6|ENSG00000185800.7|ENSG00000267395.1|ENSG00000104936.13 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Colon_Transverse|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid 0.3189 0.3134 0.2090 0.4260 0.2808 0.3194 0.3567 0.3308 0.2897 0.3271 0.3136 0.2470 0.4139 0.2917 0.3183 0.3447 0.3078 het 1041.26 87 19 46268902 . C T 1041.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.872;DP=87;Dels=0.00;FS=2.899;HRun=0;HaplotypeScore=1.6316;MQ=59.52;MQ0=0;MQRankSum=0.013;QD=11.97;ReadPosRankSum=0.532;VQSLOD=6.4534;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,44:87:99:1071,0,1108 19 46269313 46269313 G C exonic SIX5 nonsynonymous SNV SIX5:NM_175875:exon3:c.C1666G:p.L556V 0.9 0.99 0.9 0.92 0.79 0.89 0.8540 0.9729 0.9112 0.9285 0.7736 0.8151 0.8354 0.8836 0.87 0.97 0.82 0.85 0.6 rs2014377 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.851 0.090 N 1 0.090 P -0.205 0.041 N -2.63 0.901 D 0.48 0.030 N 0.021 0.111 -0.963 0.386 T 0.000 0.000 T . . . -0.663 0.047 0.088 0.726 0.097 0.053 0.110 N c -1.047 -0.885 1.000 0.489 0.635 0.413 0 2.09 0.260 -0.019 0.124 -1.302 0.014 0.000 0.063 0.048 0.163 7.236 0.251 . ENSG00000104936.13|ENSG00000125755.14|ENSG00000125755.14|ENSG00000125755.14 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis 0.8526 0.9747 0.9039 0.8054 0.9261 0.7790 0.8186 0.8439 0.8830 0.8640 0.9697 0.8852 0.7781 0.9370 0.7792 0.8178 0.8200 het 320.95 25 19 46269313 . G C 320.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.023;DP=25;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=1.8937;MQ=59.07;MQ0=0;MQRankSum=-1.304;QD=12.84;ReadPosRankSum=-1.304;VQSLOD=5.0899;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,15:25:99:351,0,323 19 46289392 46289392 G C exonic DMWD synonymous SNV DMWD:NM_004943:exon3:c.C1362G:p.P454P 0.9 0.98 0.9 0.92 0.8 0.88 0.8663 0.9517 0.9221 0.9340 0.7918 0.8334 0.8520 0.8970 0.87 0.94 0.83 0.77 0.22 rs8110017 COSM439803 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8564 0.9510 0.9046 0.8057 0.9280 0.7839 0.8223 0.8529 0.8863 0.8579 0.9448 0.8852 0.7815 0.9369 0.7816 0.8191 0.8203 het 202.80 11 19 46289392 . G C 202.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=57.87;MQ0=0;MQRankSum=0.000;QD=18.44;ReadPosRankSum=-1.377;VQSLOD=4.9810;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,8:11:71.76:233,0,72 19 46289503 46289503 C T exonic DMWD synonymous SNV DMWD:NM_004943:exon3:c.G1251A:p.P417P 0.29 0.31 0.23 0.29 0.33 0.27 0.3247 0.3103 0.2119 0.2801 0.3227 0.3609 0.3556 0.2936 0.34 0.29 0.36 0.28 0.2 rs8109951 COSM1564351 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3178 0.2982 0.2085 0.4230 0.2829 0.3192 0.3597 0.3305 0.2850 0.3239 0.2985 0.2452 0.41 0.2924 0.3194 0.3471 0.3066 het 641.90 41 19 46289503 . C T 641.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.480;DP=41;Dels=0.00;FS=2.869;HRun=0;HaplotypeScore=1.5592;MQ=60.00;MQ0=0;MQRankSum=0.095;QD=15.66;ReadPosRankSum=-1.935;VQSLOD=5.7801;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,26:41:99:672,0,448 19 46376217 46376217 C A exonic FOXA3 synonymous SNV FOXA3:NM_004497:exon2:c.C954A:p.P318P 0.07 0.017 0.059 0.071 0.11 0.1 0.0925 0.0314 0.0508 0.0575 0.1588 0.1055 0.1041 0.0983 0.073 0.033 0.094 0.087 0.041 rs3810327 COSM4416138 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0902 0.0297 0.0499 0.1123 0.0559 0.1485 0.1002 0.0934 0.0979 0.0880 0.0359 0.0656 0.1225 0.0507 0.1494 0.1057 0.1324 het 879.59 72 19 46376217 . C A 879.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.431;DP=72;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.5367;MQ=58.01;MQ0=0;MQRankSum=-0.192;QD=12.22;ReadPosRankSum=0.079;VQSLOD=5.4769;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,37:72:99:910,0,941 19 46443739 46443739 T G exonic NOVA2 synonymous SNV NOVA2:NM_002516:exon4:c.A861C:p.A287A 0.73 0.8 0.58 0.79 0.7 0.73 0.6986 0.7983 0.5407 0.8044 0.7889 0.6852 0.6918 0.7238 0.73 0.8 0.69 . 0.37 rs28742045 COSM3756963 1(kidney);1(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6780 0.7889 0.5256 0.5817 0.7938 0.7876 0.6779 0.6834 0.7115 0.7404 0.8027 0.5794 0.6051 0.8084 0.7901 0.6980 0.7328 hom 411.52 15 19 46443739 . T G 411.52 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.43;VQSLOD=13.2276;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:33.11:445,33,0 19 46443886 46443886 C A exonic NOVA2 synonymous SNV NOVA2:NM_002516:exon4:c.G714T:p.L238L 0.67 0.62 0.53 0.79 0.66 0.72 0.6993 0.6645 0.5938 0.8223 0.7823 0.6869 0.6986 0.7499 0.66 0.64 0.68 0.21 0.25 rs1047061 COSM3756964 2(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6687 0.6272 0.5449 0.5731 0.8163 0.7510 0.6611 0.6839 0.7199 0.6568 0.6164 0.5298 0.5567 0.8078 0.7386 0.6526 0.6809 hom 310.90 10 19 46443886 . C A 310.90 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=31.09;VQSLOD=8.5223;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:344,30,0 19 46511548 46511548 T C exonic CCDC61 synonymous SNV CCDC61:NM_001267723:exon5:c.T540C:p.H180H 0.93 0.89 0.94 0.88 0.99 0.99 0.9702 0.9092 0.9229 0.8752 0.9555 0.9954 0.9701 0.9919 0.97 0.92 1. 0.91 . rs2287305 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9687 0.9129 0.9286 0.9944 0.8708 0.9555 0.9972 0.9748 0.9912 0.9595 0.9156 0.9330 0.9934 0.8632 0.9596 0.9954 0.9744 hom 373.22 12 19 46511548 . T C 373.22 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.10;VQSLOD=13.1641;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:33.09:406,33,0 19 46811984 46811984 A G exonic HIF3A synonymous SNV HIF3A:NM_022462:exon4:c.A306G:p.T102T,HIF3A:NM_152796:exon4:c.A306G:p.T102T,HIF3A:NM_152794:exon5:c.A507G:p.T169T,HIF3A:NM_152795:exon5:c.A513G:p.T171T 0.76 0.66 0.74 0.78 0.87 0.8 0.8176 0.6974 0.7763 0.7599 0.7931 0.8514 0.8031 0.8213 0.81 0.71 0.86 0.76 0.63 rs2311054 COSM439822;COSM1481238;COSM3756968 1(liver);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8149 0.6864 0.7808 0.8240 0.7603 0.7958 0.8530 0.8190 0.8183 0.7908 0.7006 0.7667 0.8179 0.7556 0.8004 0.8441 0.8145 hom 448.28 18 19 46811984 . A G 448.28 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=54.97;MQ0=0;QD=24.90;VQSLOD=2.7097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:39.11:481,39,0 19 46812451 46812451 C T exonic HIF3A nonsynonymous SNV HIF3A:NM_022462:exon5:c.C398T:p.A133V,HIF3A:NM_152796:exon5:c.C398T:p.A133V,HIF3A:NM_152794:exon6:c.C599T:p.A200V,HIF3A:NM_152795:exon6:c.C605T:p.A202V 0.073 0.13 0.037 0.043 0.068 0.051 0.0788 0.1372 0.0325 0.0406 0.1389 0.0781 0.0965 0.0725 0.092 0.13 0.072 0.065 0.082 rs61750957 COSM4417224;COSM4417226;COSM4417225 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.2 0.260 T 0.056 0.449 B 0.04 0.279 B 0.321 0.143 N 1 0.090 P 0.945 0.238 L 0.57 0.645 T -1.42 0.370 N 0.063 0.137 -1.096 0.046 T 0.001 0.004 T . . . 0.549 0.147 7.799 0.993 0.573 0.109 0.161 N c -0.967 -1.039 0.038 0.143 0.719 0.830 0 0.966 0.187 0.963 0.287 0.065 0.171 0.000 0.063 0.317 0.240 4.098 0.094 PAS domain|PAS fold . . 0.0768 0.1373 0.0355 0.0772 0.0404 0.1395 0.0742 0.0818 0.0750 0.0948 0.1272 0.0489 0.0993 0.0401 0.1388 0.0738 0.0971 het 537.60 45 19 46812451 . C T 537.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DP=45;Dels=0.00;FS=4.240;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.922;QD=11.95;ReadPosRankSum=-1.354;VQSLOD=4.7126;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,21:45:99:568,0,645 19 46815499 46815499 T C exonic HIF3A synonymous SNV HIF3A:NM_022462:exon6:c.T645C:p.D215D,HIF3A:NM_152796:exon6:c.T645C:p.D215D,HIF3A:NM_152794:exon7:c.T846C:p.D282D,HIF3A:NM_152795:exon7:c.T852C:p.D284D 0.87 0.82 0.86 0.86 0.93 0.88 0.9024 0.8395 0.8661 0.8526 0.9064 0.9291 0.8744 0.8854 0.9 0.85 0.93 0.81 0.85 rs8101480 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9017 0.8404 0.8712 0.9036 0.8481 0.9140 0.9301 0.9024 0.8823 0.8986 0.8488 0.8612 0.8940 0.8665 0.9083 0.9297 0.9162 hom 5714.12 192 19 46815499 . T C 5714.12 Mask AC=2;AF=1.00;AN=2;DP=192;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4712;MQ=59.25;MQ0=0;QD=29.76;VQSLOD=8.2760;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:5712,499,0 19 46973981 46973981 G A exonic PNMA8A synonymous SNV PNMA8A:NM_001103149:exon2:c.C312T:p.A104A,PNMA8A:NM_018215:exon2:c.C312T:p.A104A 0.24 0.33 0.21 0.18 0.25 0.17 0.2320 0.3493 0.2000 0.1650 0.2276 0.2422 0.2157 0.1779 0.28 0.35 0.24 0.29 0.33 rs4803960 COSM4000800;COSM4000801 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2250 0.3452 0.1950 0.1863 0.1700 0.2136 0.2454 0.2281 0.1771 0.2643 0.3440 0.1850 0.1623 0.1779 0.2152 0.2476 0.2270 het 865.78 80 19 46973981 . G A 865.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.814;DP=80;Dels=0.00;FS=5.905;HRun=0;HaplotypeScore=2.8242;MQ=59.77;MQ0=0;MQRankSum=-1.021;QD=10.82;ReadPosRankSum=0.952;VQSLOD=4.4253;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,35:80:99:896,0,1105 19 46974233 46974233 G A exonic PNMA8A synonymous SNV PNMA8A:NM_001103149:exon2:c.C60T:p.D20D,PNMA8A:NM_018215:exon2:c.C60T:p.D20D 0.21 0.25 0.2 0.18 0.25 0.17 0.2254 0.2804 0.1957 0.1659 0.2275 0.2406 0.2159 0.1809 0.26 0.29 0.24 0.23 0.32 rs3826851 COSM4000802;COSM4000803 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2191 0.2765 0.1905 0.1849 0.1712 0.2135 0.2435 0.2245 0.1771 0.2436 0.2768 0.1802 0.16 0.1805 0.2143 0.2446 0.2224 het 2110.74 177 19 46974233 . G A 2110.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.782;DP=177;Dels=0.00;FS=1.167;HRun=0;HaplotypeScore=4.7807;MQ=59.66;MQ0=0;MQRankSum=-0.272;QD=11.93;ReadPosRankSum=0.037;VQSLOD=5.3132;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,83:177:99:2141,0,2378 19 46998236 46998236 C T exonic PNMA8B nonsynonymous SNV PNMA8B:NM_020709:exon1:c.G487A:p.G163S 0.083 0.098 0.13 0.0069 0.16 0.031 0.1166 0.1164 0.0749 0.0063 0.1242 0.1538 0.1206 0.0508 0.15 0.12 0.16 0.14 . rs4803967 COSM3756977;COSM3756976;COSM3756978 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . 0.996 0.670 D 0.923 0.641 D . . . 1 0.090 P 1.39 0.351 L 1.52 0.307 T . . . 0.116 0.127 -1.068 0.098 T 0.001 0.003 T . . . 5.251 0.710 25.6 0.991 0.515 0.070 0.128 N c -0.133 -0.286 1.000 0.411 0.598 0.340 0 2.93 0.329 1.755 0.378 0.807 0.329 0.013 0.187 0.069 0.175 9.557 0.383 . ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13|ENSG00000182013.13 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.1144 0.1147 0.0788 0.1179 0.0079 0.1243 0.1566 0.1328 0.0502 0.1345 0.1168 0.0967 0.1126 0.0105 0.1330 0.1612 0.1337 het 1371.94 107 19 46998236 . C T 1371.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.360;DP=107;Dels=0.00;FS=0.731;HRun=0;HaplotypeScore=3.3581;MQ=59.39;MQ0=0;MQRankSum=-0.310;QD=12.82;ReadPosRankSum=0.153;VQSLOD=6.4821;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,49:107:99:1402,0,1608 19 47124714 47124714 T G exonic PTGIR synonymous SNV PTGIR:NM_000960:exon3:c.A984C:p.S328S 0.42 0.44 0.38 0.38 0.39 0.48 0.4041 0.4369 0.3228 0.4027 0.3117 0.4005 0.3844 0.4937 0.41 0.43 0.39 0.29 0.25 rs2229129 COSM439839 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3986 0.4368 0.3175 0.4842 0.4057 0.3226 0.3979 0.4082 0.4930 0.3878 0.4307 0.3210 0.5066 0.4071 0.3208 0.3789 0.3694 het 1039.49 75 19 47124714 . T G 1039.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.958;DP=75;Dels=0.00;FS=0.939;HRun=1;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-0.141;QD=13.86;ReadPosRankSum=0.565;VQSLOD=5.7804;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,42:75:99:1069,0,904 19 47137459 47137459 C T exonic GNG8 synonymous SNV GNG8:NM_033258:exon2:c.G87A:p.V29V 0.21 0.26 0.2 0.064 0.34 0.17 0.2881 0.2934 0.1832 0.0727 0.3427 0.3456 0.3080 0.2099 0.32 0.28 0.34 0.29 0.25 rs12974613 COSM4132169 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2692 0.2725 0.1838 0.2729 0.0653 0.3109 0.3381 0.2936 0.1972 0.3051 0.2807 0.2252 0.2381 0.0720 0.3215 0.3448 0.3244 het 387.09 28 19 47137459 . C T 387.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.611;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=57.65;MQ0=0;MQRankSum=-0.708;QD=13.82;ReadPosRankSum=-0.317;VQSLOD=6.3030;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,15:28:99:417,0,308 19 47177913 47177913 A G exonic PRKD2 nonsynonymous SNV PRKD2:NM_001079882:exon17:c.T2033C:p.V678A,PRKD2:NM_016457:exon18:c.T2504C:p.V835A,PRKD2:NM_001079880:exon19:c.T2504C:p.V835A,PRKD2:NM_001079881:exon19:c.T2504C:p.V835A 1. 1. 1. 1. 1. 1. 0.9996 0.9993 1 1 1 0.9994 1 1 1. 1. 1. 1. 1. rs314665 COSM4132177 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9996 0.9996 1 1 1 1 0.9992 0.9996 1 0.9995 0.9997 1 1 1 1 0.9991 1 hom 2230.76 75 19 47177913 . A G 2230.76 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=57.94;MQ0=0;QD=29.74;VQSLOD=8.0656;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:75:99:2264,190,0 19 47278859 47278859 C G exonic SLC1A5 nonsynonymous SNV SLC1A5:NM_001145145:exon7:c.G928C:p.V310L,SLC1A5:NM_001145144:exon8:c.G850C:p.V284L,SLC1A5:NM_005628:exon8:c.G1534C:p.V512L 0.13 0.15 0.13 0.001 0.23 0.15 0.2035 0.1727 0.0987 0.0008 0.2053 0.2550 0.2048 0.1939 0.23 0.17 0.26 0.13 0.25 rs3027961 . . . . . . . . . . . . . 0.596 0.108 T 0.0 0.067 B 0.001 0.040 B 0.086 0.024 N 1 0.090 P 0.205 0.094 N 0.81 0.695 T 0.25 0.048 N 0.02 0.026 -1.069 0.097 T 0.000 0.000 T . . . 0.471 0.139 7.209 0.903 0.190 0.182 0.200 N c -1.301 -1.292 0.794 0.240 0.707 0.730 0 -2.11 0.068 0.111 0.152 0.019 0.143 0.000 0.063 0.001 0.043 6.102 0.191 . ENSG00000105287.8|ENSG00000105281.8|ENSG00000181027.6|ENSG00000105287.8|ENSG00000181027.6|ENSG00000269487.1|ENSG00000090372.10|ENSG00000105287.8|ENSG00000181027.6|ENSG00000105287.8|ENSG00000181027.6|ENSG00000105287.8 Artery_Coronary|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.2007 0.1677 0.1082 0.2538 0.0008 0.2134 0.2571 0.2101 0.1981 0.2127 0.1722 0.1379 0.2833 0.0012 0.2230 0.2578 0.2403 het 3200.81 242 19 47278859 . C G 3200.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.545;DP=242;Dels=0.00;FS=7.356;HRun=0;HaplotypeScore=5.7074;MQ=59.64;MQ0=0;MQRankSum=-2.144;QD=13.23;ReadPosRankSum=-0.229;VQSLOD=2.7623;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,116:242:99:3231,0,3156 19 47543774 47543774 G A exonic NPAS1 synonymous SNV NPAS1:NM_001321086:exon5:c.G507A:p.Q169Q,NPAS1:NM_002517:exon9:c.G1035A:p.Q345Q 0.57 0.32 0.66 0.72 0.72 0.56 0.6819 0.3978 0.7438 0.7189 0.7468 0.7297 0.6710 0.5817 0.6 0.37 0.72 0.55 0.49 rs3745615 COSM1564343 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6733 0.3513 0.7192 0.6395 0.7110 0.7373 0.7187 0.6722 0.5645 0.6228 0.3755 0.6778 0.6267 0.6997 0.7328 0.7260 0.6739 hom 362.08 13 19 47543774 . G A 362.08 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.85;VQSLOD=13.5522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:30.10:395,30,0 19 47548678 47548678 G A exonic NPAS1 synonymous SNV NPAS1:NM_002517:exon12:c.G1542A:p.A514A 0.45 0.16 0.53 0.69 0.61 0.39 0.5898 0.2703 0.6480 0.7148 0.6965 0.6324 0.5608 0.4334 0.48 0.23 0.6 0.47 0.26 rs889169 COSM3756979 6(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5649 0.2216 0.5942 0.4414 0.6979 0.6713 0.6159 0.5591 0.4073 0.5133 0.2293 0.5670 0.4329 0.6847 0.6627 0.6197 0.5761 hom 576.32 23 19 47548678 . G A 576.32 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=58.99;MQ0=0;QD=25.06;VQSLOD=6.5265;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:23:54.12:609,54,0 19 47585517 47585517 G C exonic ZC3H4 synonymous SNV ZC3H4:NM_015168:exon10:c.C1254G:p.L418L 0.37 0.1 0.54 0.28 0.69 0.41 0.5761 0.1901 0.5478 0.2747 0.6667 0.7006 0.5780 0.4416 0.55 0.24 0.7 0.27 0.66 rs7250850 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5789 0.1861 0.5491 0.6167 0.2745 0.6593 0.7069 0.6023 0.4387 0.5230 0.1992 0.5360 0.6424 0.2877 0.6527 0.6988 0.5912 hom 5531.95 178 19 47585517 . G C 5531.95 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5382;MQ=59.64;MQ0=0;QD=31.08;VQSLOD=9.3944;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:178:99:5504,415,0 19 47770015 47770015 A C exonic CCDC9 synonymous SNV CCDC9:NM_015603:exon8:c.A868C:p.R290R 0.51 0.34 0.58 0.68 0.43 0.6 0.5221 0.3569 0.6850 0.6803 0.5112 0.4690 0.5270 0.6266 0.39 0.31 0.43 0.42 0.23 rs10413121 COSM1163603 1(pancreas);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5052 0.3234 0.6514 0.5360 0.6783 0.4613 0.4338 0.4930 0.6114 0.4296 0.3332 0.5851 0.5333 0.6822 0.4555 0.4386 0.4773 het 223.62 23 19 47770015 . A C 223.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.535;DP=23;Dels=0.00;FS=1.768;HRun=0;HaplotypeScore=0.8667;MQ=57.97;MQ0=0;MQRankSum=-0.913;QD=9.72;ReadPosRankSum=0.850;VQSLOD=3.9565;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,9:23:99:254,0,382 19 47774680 47774680 C G exonic CCDC9 synonymous SNV CCDC9:NM_015603:exon12:c.C1341G:p.A447A 0.0072 0.0023 0.0043 . 0.025 0.0051 0.0273 0.0056 0.0077 0 0.0535 0.0401 0.0179 0.0078 0.026 0.0052 0.036 0.011 0.016 rs117519030 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0276 0.0050 0.0095 0.0504 5.8e-05 0.0549 0.0386 0.0249 0.0079 0.0314 0.0074 0.0107 0.0430 0.0006 0.0543 0.0439 0.0370 het 524.46 42 19 47774680 . C G 524.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.488;DP=42;Dels=0.00;FS=2.587;HRun=0;HaplotypeScore=1.6671;MQ=57.48;MQ0=0;MQRankSum=1.801;QD=12.49;ReadPosRankSum=-0.290;VQSLOD=3.9252;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,22:42:99:554,0,515 19 47774772 47774772 T C exonic CCDC9 nonsynonymous SNV CCDC9:NM_015603:exon12:c.T1433C:p.L478P 0.51 0.34 0.58 0.68 0.43 0.6 0.5011 0.3327 0.6678 0.6732 0.4601 0.4519 0.5056 0.6139 0.4 0.32 0.44 0.42 0.34 rs888836 COSM3721172 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.79 0.032 T 0.0 0.026 B 0.0 0.013 B 0.204 0.165 N 1 0.090 P -2.85 0.000 N 1.97 0.221 T 1.15 0.012 N 0.038 0.018 -0.999 0.303 T 0.000 0.000 T . . . 0.439 0.136 6.946 0.740 0.102 0.001 0.004 N c -1.665 -1.589 0.942 0.275 0.707 0.730 0 0.712 0.172 -0.038 0.120 -0.059 0.122 0.000 0.063 0.002 0.062 2.676 0.047 . ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000105321.8|ENSG00000197405.3|ENSG00000105321.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid 0.5076 0.3275 0.6533 0.5372 0.6793 0.4626 0.4393 0.4947 0.6135 0.4285 0.3314 0.5841 0.53 0.6792 0.4559 0.4380 0.4741 het 774.20 75 19 47774772 . T C 774.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.301;DP=75;Dels=0.00;FS=0.924;HRun=1;HaplotypeScore=1.7331;MQ=58.75;MQ0=0;MQRankSum=-0.712;QD=10.32;ReadPosRankSum=0.307;VQSLOD=5.8998;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,32:75:99:804,0,1225 19 47823484 47823484 T C exonic C5AR1 unknown UNKNOWN 0.99 1. 0.98 1. 0.98 0.98 0.9877 0.9972 0.9832 0.9999 0.9952 0.9850 0.9846 0.9867 0.99 1. 0.98 0.98 0.99 rs4804049 COSM4132195 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9871 0.9976 0.9846 0.9775 0.9999 0.9943 0.9845 0.9783 0.9858 0.9922 0.9968 0.9881 0.9801 1 0.9963 0.9886 0.9847 hom 5491.18 172 19 47823484 . T C 5491.18 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.45;MQ0=0;QD=31.93;VQSLOD=8.9772;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5490,445,0 19 47823871 47823871 G T exonic C5AR1 unknown UNKNOWN 0.97 0.94 0.97 1. 0.97 0.98 0.9817 0.9348 0.9790 0.9999 0.9952 0.9848 0.9824 0.9852 0.97 0.94 0.98 0.95 0.98 rs11880097 . . . . . . . . . . . . . 0.497 0.078 T 0.06 0.217 B 0.029 0.203 B 0.362 0.043 U 1 0.090 P 1.435 0.361 L -0.63 0.720 T -0.65 0.189 N 0.073 0.166 -0.923 0.452 T 0.000 0.000 T . . . -0.931 0.035 0.022 0.594 0.061 0.025 0.069 N c -1.732 -1.882 1.000 0.432 0.516 0.203 0 -9.75 0.004 -4.325 0.003 -0.624 0.042 0.000 0.063 0.000 0.016 18.997 0.928 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.9821 0.9331 0.9802 0.9773 0.9999 0.9943 0.9844 0.9747 0.9843 0.9745 0.9351 0.9845 0.9801 1 0.9963 0.9884 0.9816 hom 6112.34 198 19 47823871 . G T 6112.34 Mask AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4839;MQ=59.55;MQ0=0;QD=30.87;VQSLOD=8.9982;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:198:99:6111,493,0 19 47856336 47856336 C T exonic DHX34 nonsynonymous SNV DHX34:NM_014681:exon2:c.C49T:p.R17W 0.021 0.0038 0.037 . 0.069 0.0051 0.0481 0.0097 0.0321 0.0001 0.0648 0.0699 0.0591 0.0134 0.049 0.013 0.067 0.033 0.074 rs12984558 . . . . . . . . . . . . . 0.14 0.256 T 0.001 0.067 B 0.0 0.013 B 0.389 0.045 N 1 0.090 N 0.68 0.165 N 4.09 0.030 T -0.84 0.229 N 0.072 0.081 -0.913 0.464 T 0.001 0.002 T . . . 1.951 0.295 15.91 0.913 0.200 0.086 0.143 N c -1.412 -1.395 0.998 0.357 0.719 0.830 0 -0.368 0.119 -1.050 0.036 -0.328 0.075 0.000 0.063 0.000 0.016 6.453 0.210 . . . 0.0473 0.0091 0.0323 0.0647 0.0002 0.0623 0.0685 0.0555 0.0139 0.0502 0.0126 0.0453 0.0695 0 0.0619 0.0741 0.0603 het 400.87 33 19 47856336 . C T 400.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DP=33;Dels=0.00;FS=3.093;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-0.597;QD=12.15;ReadPosRankSum=-1.284;VQSLOD=5.8627;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:431,0,472 19 47883086 47883086 T G exonic DHX34 synonymous SNV DHX34:NM_014681:exon14:c.T2826G:p.A942A 0.087 0.073 0.1 0.0069 0.14 0.12 0.1242 0.0838 0.0929 0.0063 0.1122 0.1526 0.1267 0.1232 0.13 0.086 0.15 0.087 0.16 rs28522883 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1227 0.0809 0.0982 0.1484 0.0067 0.1066 0.1541 0.1328 0.1235 0.1174 0.0851 0.0919 0.1887 0.0062 0.1155 0.1467 0.1477 het 1732.92 144 19 47883086 . T G 1732.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.603;DP=144;Dels=0.00;FS=9.568;HRun=0;HaplotypeScore=1.7219;MQ=59.61;MQ0=0;MQRankSum=0.070;QD=12.03;ReadPosRankSum=-0.210;VQSLOD=4.5355;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:78,66:144:99:1763,0,2212 19 47980153 47980153 G A exonic KPTN synonymous SNV KPTN:NM_001291296:exon8:c.C738T:p.P246P,KPTN:NM_007059:exon10:c.C906T:p.P302P 0.35 0.016 0.38 0.54 0.5 0.41 0.4752 0.1090 0.5080 0.6156 0.6185 0.5378 0.5039 0.4251 0.35 0.097 0.47 0.35 0.24 rs2293424 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4487 0.0770 0.4191 0.5472 0.5396 0.5381 0.4712 0.4650 0.4156 0.3889 0.0971 0.4411 0.5695 0.5442 0.5359 0.4958 0.4762 hom 637.65 22 19 47980153 . G A 637.65 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.98;VQSLOD=13.5124;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:51.16:671,51,0 19 48184474 48184474 C T exonic BICRA nonsynonymous SNV BICRA:NM_015711:exon6:c.C2047T:p.P683S 0.35 0.48 0.32 0.32 0.25 0.31 0.3264 0.4618 0.3667 0.3724 0.4167 0.3136 0.3099 0.3193 0.23 0.32 0.19 0.42 . rs3745762 . . . . . . . . . . . . . 0.071 0.351 T 0.008 0.135 B 0.007 0.121 B . . . 1 0.090 P 0.895 0.225 L 1.58 0.291 T -0.65 0.189 N 0.077 0.068 -0.916 0.461 T 0.000 0.000 T . . . -0.469 0.057 0.262 0.766 0.111 0.061 0.119 N c -0.762 -0.745 0.442 0.205 0.651 0.465 0 1.84 0.242 0.088 0.147 0.841 0.343 0.000 0.063 0.388 0.252 1.155 0.017 . . . 0.2917 0.4198 0.2892 0.3053 0.2878 0.2396 0.2668 0.2834 0.3257 0.3151 0.4368 0.2998 0.3167 0.2816 0.2400 0.2696 0.2674 het 51.60 10 19 48184474 . C T 51.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=57.66;MQ0=0;MQRankSum=0.296;QD=5.16;ReadPosRankSum=0.296;VQSLOD=4.8463;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,3:10:81.59:82,0,171 19 48244194 48244194 A G exonic EHD2 synonymous SNV EHD2:NM_014601:exon6:c.A1137G:p.L379L 0.5 0.13 0.55 0.56 0.67 0.71 0.6293 0.2216 0.5478 0.5396 0.6758 0.6888 0.6378 0.7263 0.54 0.24 0.7 0.45 0.57 rs7255434 COSM4416187 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6331 0.2105 0.5599 0.5704 0.5415 0.6723 0.6984 0.6543 0.7261 0.5491 0.2230 0.5728 0.6060 0.5363 0.6899 0.6968 0.6694 hom 2541.06 78 19 48244194 . A G 2541.06 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=32.58;VQSLOD=9.1338;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2574,199,0 19 48244569 48244569 G A exonic EHD2 synonymous SNV EHD2:NM_014601:exon6:c.G1512A:p.E504E 0.45 0.13 0.49 0.55 0.55 0.66 0.5390 0.1986 0.5008 0.5302 0.5825 0.5636 0.5448 0.6625 0.45 0.21 0.57 0.41 0.34 rs3745758 COSM3756990 1(breast);2(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5405 0.1888 0.4999 0.4171 0.5327 0.5780 0.5723 0.5406 0.6609 0.4669 0.1939 0.5120 0.4664 0.5305 0.5943 0.5802 0.5726 hom 1952.70 58 19 48244569 . G A 1952.70 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.39;MQ0=0;QD=33.67;VQSLOD=8.9250;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1986,156,0 19 48248924 48248924 G A exonic NOP53 synonymous SNV NOP53:NM_015710:exon1:c.G108A:p.R36R 0.012 0.0008 0.022 . 0.034 0.011 0.0244 0.0036 0.0084 0 0.0732 0.0313 0.0394 0.0136 0.015 0.003 0.021 . 0.0082 rs3181870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0241 0.0030 0.0083 0.0158 0 0.0717 0.0293 0.0219 0.0152 0.0273 0.0050 0.0107 0.0331 0 0.0765 0.0312 0.0468 het 1207.11 90 19 48248924 . G A 1207.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.180;DP=90;Dels=0.00;FS=2.290;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.021;QD=13.41;ReadPosRankSum=0.455;VQSLOD=5.8582;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,46:90:99:1237,0,1312 19 48248925 48248925 C A exonic NOP53 synonymous SNV NOP53:NM_015710:exon1:c.C109A:p.R37R 0.012 0.0008 0.022 . 0.034 0.011 0.0244 0.0036 0.0084 0 0.0733 0.0313 0.0394 0.0136 0.015 0.003 0.021 . 0.0082 rs144346550 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0241 0.0030 0.0083 0.0158 0 0.0717 0.0293 0.0219 0.0152 0.0273 0.0050 0.0107 0.0331 0 0.0765 0.0312 0.0468 het 1267.67 90 19 48248925 . C A 1267.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.546;DP=90;Dels=0.00;FS=1.039;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.250;QD=14.09;ReadPosRankSum=0.324;VQSLOD=4.7841;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,46:90:99:1298,0,1094 19 48255804 48255804 A G exonic NOP53 synonymous SNV NOP53:NM_015710:exon6:c.A705G:p.A235A . . . . . . 0.5180 0.1767 0.4938 0.5137 0.5604 0.5452 0.5235 0.6213 0.43 0.19 0.55 0.38 0.33 rs1042558 COSM5427188 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5213 0.1696 0.4939 0.4079 0.5195 0.5489 0.5558 0.5206 0.6207 0.4426 0.1776 0.5072 0.4530 0.5118 0.5587 0.5513 0.5542 hom 1265.08 59 19 48255804 . A G 1265.08 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.23;MQ0=0;QD=21.44;VQSLOD=5.7863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:59:99:1298,117,0 19 48389425 48389425 A G exonic SULT2A1 synonymous SNV SULT2A1:NM_003167:exon1:c.T90C:p.F30F 0.97 0.91 0.98 1. 1. 1. 0.9928 0.9337 0.9915 1 1 0.9988 0.9945 0.9998 0.98 0.93 1. 0.97 1. rs11083907 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9939 0.9330 0.9926 0.9921 0.9999 1.0000 0.9992 0.9929 0.9998 0.9824 0.9404 0.9905 0.9901 0.9994 1 0.9993 0.9990 hom 7857.50 244 19 48389425 . A G 7857.50 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2392;MQ=58.99;MQ0=0;QD=32.20;VQSLOD=5.3336;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,244:244:99:7856,647,0 19 48525507 48525507 G A exonic ELSPBP1 nonsynonymous SNV ELSPBP1:NM_022142:exon6:c.G595A:p.E199K 0.69 0.67 0.72 0.87 0.57 0.62 0.6144 0.6238 0.7457 0.8729 0.6383 0.5567 0.6366 0.6031 0.58 0.61 0.57 0.66 0.54 rs2303690 COSM1179786 1(skin);1(prostate);1(large_intestine) . . . . . . . . . . . 0.625 0.052 T 0.011 0.147 B 0.014 0.158 B 0.017 0.279 N 1 0.090 P 0.29 0.101 N 0.67 0.522 T -1.5 0.366 N 0.044 0.024 -0.931 0.440 T 0.000 0.000 T . . . 0.204 0.114 4.723 0.532 0.048 0.003 0.018 N c -1.251 -1.228 0.000 0.012 0.487 0.133 0 1.54 0.222 0.692 0.250 0.101 0.200 0.420 0.261 0.025 0.141 3.805 0.082 Fibronectin\x2c type II\x2c collagen-binding|Kringle-like fold . . 0.6227 0.6222 0.7274 0.5988 0.8782 0.6302 0.5576 0.6141 0.6062 0.6112 0.6108 0.6993 0.5728 0.8703 0.6297 0.5747 0.6171 het 1677.59 159 19 48525507 . G A 1677.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.196;DP=159;Dels=0.00;FS=4.807;HRun=2;HaplotypeScore=0.9665;MQ=59.15;MQ0=0;MQRankSum=0.220;QD=10.55;ReadPosRankSum=0.653;VQSLOD=6.0834;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,63:159:99:1708,0,2568 19 48537585 48537585 A G exonic CABP5 nonsynonymous SNV CABP5:NM_019855:exon5:c.T383C:p.V128A 0.22 0.14 0.28 0.065 0.36 0.32 0.3284 0.1648 0.2264 0.0740 0.3323 0.3953 0.3450 0.3663 0.31 0.17 0.39 0.24 0.4 rs3745746 COSM3766389 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.045 0.236 N 1 0.090 P -1.23 0.008 N -0.35 0.686 T 2.07 0.004 N 0.061 0.045 -1.038 0.181 T 0.000 0.000 T . . . -1.226 0.024 0.006 0.438 0.033 0.007 0.030 N c -1.868 -1.781 0.000 0.044 0.487 0.133 0 -5.16 0.026 -3.821 0.004 -0.821 0.031 0.000 0.063 0.113 0.194 8.839 0.341 EF-Hand 1\x2c calcium-binding site|EF-hand domain|EF-hand domain pair . . 0.3268 0.1578 0.2419 0.4428 0.0723 0.3364 0.3918 0.3473 0.3517 0.2913 0.1613 0.2739 0.4371 0.0721 0.3371 0.3739 0.3583 het 1138.33 97 19 48537585 . A G 1138.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.719;DP=97;Dels=0.00;FS=0.772;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;MQRankSum=-0.476;QD=11.74;ReadPosRankSum=-1.136;VQSLOD=6.2044;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,49:97:99:1168,0,1127 19 48543862 48543862 G A exonic CABP5 synonymous SNV CABP5:NM_019855:exon3:c.C238T:p.L80L 0.79 0.64 0.83 0.87 0.85 0.8 0.8134 0.6782 0.8330 0.8674 0.8622 0.8191 0.8403 0.8123 0.77 0.68 0.82 0.75 0.87 rs8105198 COSM4132213 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8167 0.6721 0.8326 0.7593 0.8625 0.8636 0.8209 0.8308 0.8119 0.7841 0.6786 0.8469 0.7748 0.8602 0.8575 0.8155 0.8020 hom 2649.76 79 19 48543862 . G A 2649.76 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.23;MQ0=0;QD=33.54;VQSLOD=9.8273;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2683,211,0 19 48543923 48543923 C A exonic CABP5 synonymous SNV CABP5:NM_019855:exon3:c.G177T:p.T59T 0.14 0.083 0.22 0.0099 0.27 0.16 0.2344 0.1135 0.1897 0.0064 0.2510 0.2940 0.2412 0.2134 0.23 0.12 0.28 0.14 0.3 rs12982629 COSM3756993 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2345 0.1118 0.1998 0.3337 0.0054 0.2554 0.2894 0.2631 0.2109 0.2092 0.1194 0.2297 0.3377 0.0037 0.2519 0.2679 0.2403 het 1479.56 144 19 48543923 . C A 1479.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.685;DP=144;Dels=0.00;FS=3.976;HRun=0;HaplotypeScore=1.9975;MQ=59.61;MQ0=0;MQRankSum=0.775;QD=10.27;ReadPosRankSum=1.477;VQSLOD=5.9518;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,65:144:99:1510,0,1846 19 48558163 48558163 A G exonic PLA2G4C synonymous SNV PLA2G4C:NM_001159322:exon15:c.T1431C:p.F477F,PLA2G4C:NM_001159323:exon15:c.T1401C:p.F467F,PLA2G4C:NM_003706:exon15:c.T1401C:p.F467F het 2756.21 229 19 48558163 . A G 2756.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.503;DP=229;Dels=0.00;FS=1.610;HRun=4;HaplotypeScore=6.7649;MQ=58.94;MQ0=0;MQRankSum=0.499;QD=12.04;ReadPosRankSum=1.583;VQSLOD=3.0617;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,109:229:99:2786,0,3056 19 48558286 48558286 G A exonic PLA2G4C synonymous SNV PLA2G4C:NM_001159322:exon15:c.C1308T:p.D436D,PLA2G4C:NM_001159323:exon15:c.C1278T:p.D426D,PLA2G4C:NM_003706:exon15:c.C1278T:p.D426D 0.11 0.02 0.2 0.016 0.23 0.15 0.1915 0.0425 0.1622 0.0130 0.2024 0.2372 0.1781 0.2149 0.17 0.051 0.22 0.076 0.18 rs2307281 COSM3756996;COSM3756995 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1905 0.0397 0.1696 0.2765 0.0124 0.2068 0.2320 0.2070 0.1981 0.1504 0.0467 0.1859 0.2886 0.0093 0.1990 0.2084 0.1762 het 1502.36 115 19 48558286 . G A 1502.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.691;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6615;MQ=58.12;MQ0=0;MQRankSum=1.967;QD=13.06;ReadPosRankSum=-1.858;VQSLOD=4.1849;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,56:115:99:1532,0,1671 19 48601454 48601454 T C exonic PLA2G4C synonymous SNV PLA2G4C:NM_001159322:exon6:c.A540G:p.P180P,PLA2G4C:NM_001159323:exon6:c.A510G:p.P170P,PLA2G4C:NM_003706:exon6:c.A510G:p.P170P 0.66 0.72 0.64 0.74 0.61 0.58 0.6131 0.7019 0.6155 0.7357 0.5107 0.6102 0.6150 0.5436 0.65 0.7 0.63 0.77 0.56 rs251684 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6129 0.7022 0.6195 0.5594 0.7350 0.5121 0.6231 0.6178 0.5451 0.6350 0.6882 0.6079 0.5201 0.7723 0.4974 0.6309 0.5459 het 1766.40 168 19 48601454 . T C 1766.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.344;DP=168;DS;Dels=0.00;FS=7.260;HRun=0;HaplotypeScore=7.0126;MQ=58.96;MQ0=0;MQRankSum=-0.899;QD=10.51;ReadPosRankSum=0.672;VQSLOD=4.0636;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,73:168:99:1796,0,2720 19 48621036 48621036 C G exonic LIG1 synonymous SNV LIG1:NM_001289064:exon24:c.G2238C:p.A746A,LIG1:NM_001289063:exon25:c.G2349C:p.A783A,LIG1:NM_001320971:exon25:c.G2352C:p.A784A,LIG1:NM_000234:exon26:c.G2442C:p.A814A,LIG1:NM_001320970:exon26:c.G2439C:p.A813A 0.54 0.54 0.42 0.75 0.46 0.51 0.4747 0.5502 0.3719 0.7531 0.5157 0.4367 0.5087 0.4842 0.46 0.55 0.42 0.59 0.3 rs13436 COSM5653093 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000455698.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4620 0.5401 0.3730 0.4062 0.7532 0.4918 0.4287 0.4529 0.4751 0.4895 0.5486 0.3974 0.3974 0.7577 0.4928 0.4324 0.4888 het 488.15 38 19 48621036 . C G 488.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.579;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=58.68;MQ0=0;MQRankSum=0.138;QD=12.85;ReadPosRankSum=0.414;VQSLOD=6.4647;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,21:38:99:518,0,348 19 48622427 48622427 A G exonic LIG1 synonymous SNV LIG1:NM_001289064:exon23:c.T2202C:p.D734D,LIG1:NM_001289063:exon24:c.T2313C:p.D771D,LIG1:NM_001320971:exon24:c.T2316C:p.D772D,LIG1:NM_000234:exon25:c.T2406C:p.D802D,LIG1:NM_001320970:exon25:c.T2403C:p.D801D 0.72 0.89 0.57 0.87 0.56 0.59 0.6228 0.8477 0.5694 0.8692 0.6354 0.5755 0.6272 0.5698 0.64 0.84 0.53 0.79 0.35 rs20581 COSM1129769 1(pancreas);1(prostate) Benign not_specified RCV000454794.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5733 0.8518 0.5062 0.4856 0.8785 0.5730 0.5292 0.5565 0.5531 0.6542 0.8492 0.5251 0.4868 0.8826 0.5813 0.5474 0.5949 het 125.87 13 19 48622427 . A G 125.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DP=13;Dels=0.00;FS=2.276;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.312;QD=9.68;ReadPosRankSum=0.101;VQSLOD=6.3960;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:156,0,215 19 48654553 48654553 G T exonic LIG1 synonymous SNV LIG1:NM_001289063:exon6:c.C417A:p.A139A,LIG1:NM_001320971:exon6:c.C420A:p.A140A,LIG1:NM_000234:exon7:c.C510A:p.A170A,LIG1:NM_001320970:exon7:c.C507A:p.A169A 0.53 0.56 0.47 0.69 0.49 0.42 0.4875 0.5538 0.4335 0.6991 0.5169 0.4773 0.4615 0.4037 0.51 0.56 0.48 0.51 0.4 rs20580 . . Benign not_specified RCV000454851.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4872 0.5526 0.4360 0.4158 0.7063 0.5134 0.4854 0.4637 0.4020 0.5190 0.5483 0.4329 0.4067 0.6944 0.5161 0.4918 0.5031 het 1770.68 159 19 48654553 . G T 1770.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.765;DP=159;Dels=0.00;FS=7.128;HRun=1;HaplotypeScore=2.9725;MQ=59.27;MQ0=0;MQRankSum=2.012;QD=11.14;ReadPosRankSum=-0.943;VQSLOD=4.4212;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,70:159:99:1801,0,2294 19 48735017 48735017 - TT exonic CARD8 frameshift insertion CARD8:NM_001184900:exon5:c.441_442insAA:p.V148Kfs*25,CARD8:NM_001184901:exon5:c.291_292insAA:p.V98Kfs*25,CARD8:NM_001184903:exon6:c.441_442insAA:p.V148Kfs*25,CARD8:NM_014959:exon6:c.291_292insAA:p.V98Kfs*25,CARD8:NM_001184902:exon8:c.441_442insAA:p.V148Kfs*25 0.042 0.0023 0.027 0.058 0.053 0.08 0.0525 0.0097 0.0301 0.0781 0.0576 0.0576 0.0771 0.0577 0.043 0.011 0.059 . . rs146319637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0507 0.0095 0.0298 0.0463 0.0698 0.0579 0.0568 0.0595 0.0561 0.0446 0.0090 0.0310 0.0464 0.0674 0.0644 0.0582 0.0571 het 1596.64 63 19 48735017 . C CTT 1596.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.443;DP=63;FS=0.000;HRun=3;HaplotypeScore=172.1683;MQ=59.88;MQ0=0;MQRankSum=1.824;QD=25.34;ReadPosRankSum=0.206;set=variant2 GT:AD:DP:GQ:PL 0/1:30,33:63:99:1636,0,886 19 48737706 48737706 A T exonic CARD8 nonsynonymous SNV CARD8:NM_001184900:exon3:c.T304A:p.F102I,CARD8:NM_001184901:exon3:c.T154A:p.F52I,CARD8:NM_001184903:exon4:c.T304A:p.F102I,CARD8:NM_014959:exon4:c.T154A:p.F52I,CARD8:NM_001184902:exon6:c.T304A:p.F102I 0.32 0.18 0.27 0.51 0.33 0.32 0.3264 0.1997 0.2499 0.4986 0.3650 0.3295 0.3172 0.3423 0.29 0.21 0.33 0.4 0.31 rs2043211 COSM3756998;COSM3756999 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.271 0.390 B 0.015 0.239 B . . . 0.000 0.588 P . . . 2.53 0.193 T 0.24 0.061 N 0.059 0.049 -0.928 0.445 T 0.000 0.000 T . . . 0.193 0.112 4.609 0.863 0.159 0.002 0.011 N c -1.603 -1.746 0.175 0.178 0.732 0.924 0 -2.42 0.061 -1.231 0.030 -0.609 0.043 0.000 0.063 0.001 0.043 0.329 0.003 FIIND domain ENSG00000105483.12|ENSG00000105479.11|ENSG00000105479.11 Artery_Tibial|Esophagus_Mucosa|Thyroid 0.3275 0.1996 0.2543 0.2702 0.5074 0.3665 0.3320 0.3255 0.3444 0.3065 0.2066 0.2661 0.2517 0.5087 0.3577 0.3324 0.3333 het 1540.95 132 19 48737706 . A T 1540.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.629;DP=132;Dels=0.00;FS=4.212;HRun=0;HaplotypeScore=0.9973;MQ=59.39;MQ0=0;MQRankSum=1.115;QD=11.67;ReadPosRankSum=0.528;VQSLOD=6.3688;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,67:132:99:1571,0,1591 19 48800338 48800338 A G exonic CCDC114 synonymous SNV CCDC114:NM_144577:exon14:c.T1908C:p.S636S 0.46 0.51 0.46 0.26 0.66 0.42 0.5703 0.5285 0.3660 0.2670 0.6248 0.6712 0.5686 0.4700 0.62 0.54 0.67 0.48 0.55 rs7252988 COSM3757000;COSM3757001 1(thyroid);1(large_intestine) Benign not_specified RCV000244374.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5645 0.5231 0.3896 0.6672 0.2698 0.6176 0.6736 0.5875 0.4709 0.5933 0.5324 0.4332 0.6391 0.2739 0.6030 0.6702 0.5786 hom 7063.89 237 19 48800338 . A G 7063.89 Mask AC=2;AF=1.00;AN=2;DP=237;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9008;MQ=59.19;MQ0=0;QD=29.81;VQSLOD=8.4119;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:7062,610,0 19 48800914 48800914 G A exonic CCDC114 nonsynonymous SNV CCDC114:NM_144577:exon13:c.C1403T:p.P468L 0.17 0.1 0.23 0.13 0.28 0.13 0.2887 0.1605 0.2475 0.1647 0.3536 0.3353 0.2954 0.2076 0.23 0.13 0.29 0.065 0.19 rs35461177 COSM148680;COSM3757002 1(stomach);2(large_intestine) Benign not_specified RCV000246276.1 MedGen CN169374 . . . . . . 0.051 0.393 T 0.606 0.376 P 0.077 0.270 B . . . 0.721 0.299 P 1.04 0.263 L 1.98 0.219 T -3.11 0.636 D 0.032 0.012 -0.927 0.445 T 0.000 0.000 T . . . 5.784 0.791 27.1 0.995 0.684 0.701 0.342 D c -0.420 -0.359 0.210 0.182 0.653 0.483 0 1.84 0.242 0.798 0.265 -0.318 0.077 0.744 0.288 0.099 0.189 5.469 0.158 . ENSG00000268001.1|ENSG00000161558.6|ENSG00000105479.11|ENSG00000105479.11|ENSG00000105479.11|ENSG00000105479.11|ENSG00000105479.11|ENSG00000268001.1|ENSG00000105479.11|ENSG00000105479.11|ENSG00000105479.11|ENSG00000105479.11 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2358 0.1215 0.2142 0.2175 0.1345 0.2757 0.2853 0.2467 0.1584 0.2313 0.1242 0.2242 0.1854 0.1478 0.2812 0.2899 0.2684 het 382.16 25 19 48800914 . G A 382.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.493;DP=25;Dels=0.00;FS=1.770;HRun=0;HaplotypeScore=0.9578;MQ=56.58;MQ0=0;MQRankSum=-1.669;QD=15.29;ReadPosRankSum=0.263;VQSLOD=2.7813;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:10,15:25:99:412,0,225 19 48806977 48806977 G A exonic CCDC114 synonymous SNV CCDC114:NM_144577:exon8:c.C807T:p.D269D 0.15 0.14 0.097 0.13 0.2 0.2 0.1830 0.1561 0.0768 0.1244 0.2655 0.2044 0.1874 0.1854 0.18 0.17 0.19 0.25 0.16 rs2242463 . . Benign not_specified RCV000247564.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1786 0.1525 0.0827 0.1853 0.1274 0.2613 0.2007 0.1775 0.1828 0.1895 0.1597 0.0919 0.1767 0.1173 0.2378 0.2089 0.1926 het 1639.41 129 19 48806977 . G A 1639.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.513;DP=129;Dels=0.00;FS=3.550;HRun=0;HaplotypeScore=8.7660;MQ=58.95;MQ0=0;MQRankSum=-0.133;QD=12.71;ReadPosRankSum=0.424;VQSLOD=4.6131;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:63,65:129:99:1669,0,1564 19 48807367 48807367 C A exonic CCDC114 synonymous SNV CCDC114:NM_144577:exon7:c.G585T:p.L195L 0.15 0.14 0.097 0.12 0.2 0.2 0.1839 0.1624 0.0768 0.1244 0.2662 0.2056 0.1865 0.1836 0.18 0.17 0.18 0.24 0.17 rs28582401 COSM4132215 1(thyroid) Benign not_specified RCV000249868.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1785 0.1561 0.0828 0.1849 0.1274 0.2620 0.2009 0.1780 0.1805 0.1897 0.1615 0.0919 0.1767 0.1168 0.2378 0.2084 0.1912 het 1761.70 125 19 48807367 . C A 1761.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.618;DP=125;Dels=0.00;FS=2.847;HRun=1;HaplotypeScore=9.1753;MQ=58.99;MQ0=0;MQRankSum=0.013;QD=14.09;ReadPosRankSum=0.542;VQSLOD=3.7838;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,69:125:99:1792,0,1546 19 48836673 48836673 G T exonic TMEM143 synonymous SNV TMEM143:NM_001303540:exon6:c.C883A:p.R295R,TMEM143:NM_001303538:exon7:c.C1078A:p.R360R,TMEM143:NM_001303539:exon7:c.C988A:p.R330R,TMEM143:NM_018273:exon8:c.C1183A:p.R395R 0.34 0.26 0.38 0.35 0.42 0.31 0.3908 0.2903 0.3729 0.3340 0.3356 0.4294 0.3947 0.3592 0.39 0.29 0.44 0.27 0.4 rs3826828 COSM3766393;COSM4909371 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3897 0.2879 0.3850 0.5136 0.3381 0.3336 0.4292 0.4097 0.3368 0.3656 0.2799 0.4010 0.4901 0.3519 0.3358 0.4183 0.3839 het 1731.63 131 19 48836673 . G T 1731.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.116;DP=131;Dels=0.00;FS=2.357;HRun=0;HaplotypeScore=3.0890;MQ=58.93;MQ0=0;MQRankSum=-1.812;QD=13.22;ReadPosRankSum=-1.094;VQSLOD=5.0287;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,67:131:99:1762,0,1686 19 48863386 48863386 C T exonic TMEM143 synonymous SNV TMEM143:NM_001303539:exon3:c.G312A:p.S104S,TMEM143:NM_018273:exon3:c.G312A:p.S104S 0.54 0.34 0.66 0.61 0.59 0.6 0.5965 0.3731 0.7058 0.6211 0.6586 0.5999 0.6046 0.6085 0.53 0.37 0.61 0.3 0.61 rs438767 COSM1163604 2(haematopoietic_and_lymphoid_tissue);1(pancreas);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6038 0.3684 0.6974 0.5258 0.6109 0.6586 0.6012 0.6073 0.6094 0.5575 0.3689 0.6818 0.54 0.6233 0.6763 0.6191 0.6612 het 832.87 79 19 48863386 . C T 832.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.370;DP=79;Dels=0.00;FS=3.046;HRun=0;HaplotypeScore=1.9920;MQ=59.76;MQ0=0;MQRankSum=-0.348;QD=10.54;ReadPosRankSum=1.016;VQSLOD=5.9752;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,38:79:99:863,0,966 19 48954421 48954421 G A exonic GRWD1 nonsynonymous SNV GRWD1:NM_031485:exon6:c.G956A:p.R319Q 0.19 0.22 0.37 0.15 0.15 0.12 0.1794 0.1965 0.4085 0.1683 0.2068 0.1476 0.1882 0.1296 0.15 0.19 0.14 0.24 0.13 rs2302951 . . . . . . . . . . . . . 0.408 0.102 T 0.0 0.026 B 0.003 0.080 B 0.108 0.196 N 0.875 0.281 P -0.135 0.045 N 5.06 0.013 T -0.28 0.116 N 0.063 0.048 -0.953 0.405 T 0.000 0.000 T . . . 3.566 0.486 23.1 0.961 0.281 0.641 0.320 D c -0.562 -0.356 0.035 0.142 0.707 0.730 0 4.04 0.461 0.808 0.266 0.949 0.536 0.016 0.191 1.000 0.888 6.291 0.201 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.1888 0.1937 0.3923 0.1729 0.1659 0.2068 0.1453 0.1875 0.1268 0.1805 0.1886 0.3481 0.1755 0.1654 0.2117 0.1605 0.1861 het 1219.30 73 19 48954421 . G A 1219.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.400;DP=73;Dels=0.00;FS=0.984;HRun=0;HaplotypeScore=3.4948;MQ=59.05;MQ0=0;MQRankSum=-0.318;QD=16.70;ReadPosRankSum=-0.796;VQSLOD=5.8187;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,42:73:99:1249,0,826 19 49001600 49001600 A G exonic LMTK3 nonsynonymous SNV LMTK3:NM_001080434:exon12:c.T2813C:p.V938A 0.1 0.24 0.063 0.0079 0.053 0.083 0.0665 0.2139 0.0398 0.0186 0.0295 0.0503 0.0621 0.1037 0.093 0.2 0.043 0.15 . rs61745738 . . . . . . . . . . . . . 0.597 0.057 T 0.0 0.026 B 0.0 0.013 B 0.956 0.077 N 1 0.090 P 1.095 0.275 L -1.23 0.789 T 1.16 0.011 N 0.021 0.005 -1.112 0.029 T 0.000 0.000 T . . . -2.093 0.007 0.001 0.174 0.005 0.001 0.006 N c -1.458 -1.435 1.000 0.517 0.696 0.567 0 -0.006 0.133 -1.915 0.017 -1.254 0.015 0.000 0.063 0.000 0.016 7.096 0.243 . . . 0.0625 0.2186 0.0408 0.0733 0.0182 0.0316 0.0483 0.0712 0.1027 0.0894 0.2113 0.0513 0.1 0.0274 0.0342 0.0426 0.0456 het 573.45 41 19 49001600 . A G 573.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.864;DP=41;Dels=0.00;FS=3.151;HRun=2;HaplotypeScore=3.9076;MQ=60.00;MQ0=0;MQRankSum=-0.900;QD=13.99;ReadPosRankSum=0.691;VQSLOD=4.5299;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:603,0,595 19 49079246 49079246 C T exonic SULT2B1 synonymous SNV SULT2B1:NM_004605:exon1:c.C75T:p.P25P,SULT2B1:NM_177973:exon2:c.C120T:p.P40P 0.13 0.23 0.1 0.003 0.15 0.13 0.1338 0.2192 0.0681 0.0037 0.1216 0.1526 0.1002 0.1248 0.18 0.23 0.16 0.18 0.11 rs2544794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1298 0.2225 0.0714 0.1779 0.0024 0.1130 0.1551 0.1216 0.1269 0.1613 0.2255 0.0971 0.2152 0.0025 0.1164 0.1560 0.1304 het 4224.37 249 19 49079246 . C T 4224.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.075;DP=249;DS;Dels=0.00;FS=2.151;HRun=0;HaplotypeScore=5.9737;MQ=59.63;MQ0=0;MQRankSum=-1.678;QD=16.97;ReadPosRankSum=-0.397;VQSLOD=3.7553;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,138:249:99:3618,0,2851 19 49102399 49102399 C T exonic SULT2B1 synonymous SNV SULT2B1:NM_004605:exon6:c.C789T:p.C263C,SULT2B1:NM_177973:exon7:c.C834T:p.C278C 0.36 0.21 0.42 0.26 0.51 0.47 0.5551 0.3354 0.5323 0.4014 0.5385 0.6111 0.5427 0.5278 0.45 0.26 0.56 0.39 0.39 rs1132054 COSM439906;COSM439907 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4696 0.2379 0.4259 0.5560 0.2623 0.4079 0.5435 0.5013 0.4885 0.4260 0.2629 0.4318 0.5662 0.2509 0.4243 0.5345 0.4682 het 232.72 15 19 49102399 . C T 232.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.295;DP=15;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.412;QD=15.51;ReadPosRankSum=-0.648;VQSLOD=6.3959;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,9:15:99:263,0,147 19 49116359 49116359 T C exonic FAM83E nonsynonymous SNV FAM83E:NM_017708:exon1:c.A271G:p.T91A 0.55 0.73 0.5 0.74 0.26 0.45 0.3860 0.6834 0.5182 0.7267 0.3504 0.2672 0.3663 0.4185 . . . 0.56 0.17 rs447802 COSM439909 1(pancreas);1(thyroid);13(upper_aerodigestive_tract);2(large_intestine);2(central_nervous_system) . . . . . . . . . . . 0.977 0.020 T 0.0 0.026 B 0.002 0.063 B 0.178 0.032 N 1 0.090 P 0.425 0.126 N 2.85 0.106 T 0.97 0.015 N 0.016 0.003 -0.944 0.419 T 0.000 0.000 T . . . -2.819 0.002 0.001 0.355 0.022 0.008 0.033 N c -1.999 -2.057 1.000 0.747 0.421 0.056 0 -5.7 0.022 -2.060 0.015 -1.942 0.005 0.000 0.063 0.000 0.016 10.325 0.428 . ENSG00000232871.4|ENSG00000105523.3|ENSG00000232871.4|ENSG00000232871.4|ENSG00000232871.4|ENSG00000063176.11|ENSG00000063176.11|ENSG00000232871.4|ENSG00000232871.4|ENSG00000232871.4|ENSG00000232871.4|ENSG00000177202.1|ENSG00000232871.4|ENSG00000232871.4 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.3761 0.6847 0.4914 0.2539 0.7325 0.3568 0.2511 0.3451 0.4058 0.4343 0.6723 0.4821 0.3245 0.7624 0.3604 0.2816 0.3637 het 75.95 18 19 49116359 . T C 75.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.814;DP=18;Dels=0.00;FS=2.667;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-0.478;QD=4.22;ReadPosRankSum=-0.690;VQSLOD=3.7983;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,4:18:99:106,0,351 19 49116555 49116555 A G exonic FAM83E synonymous SNV FAM83E:NM_017708:exon1:c.T75C:p.F25F 0.89 0.99 0.84 1. 0.71 0.85 0.8019 0.9514 0.8730 0.9977 0.8178 0.7298 0.8080 0.8381 0.79 0.95 0.72 0.88 0.57 rs368654 COSM439910 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7935 0.9550 0.8591 0.6971 0.9982 0.8132 0.7129 0.7731 0.8329 0.8203 0.9443 0.8365 0.7020 0.9988 0.8087 0.7346 0.7945 hom 800.90 24 19 49116555 . A G 800.90 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.589;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=1.445;QD=33.37;ReadPosRankSum=1.156;VQSLOD=9.3889;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,23:24:69.21:834,69,0 19 49164952 49164952 A G exonic NTN5 synonymous SNV NTN5:NM_145807:exon7:c.T1452C:p.S484S 0.53 0.35 0.47 0.56 0.64 0.68 0.6013 0.3824 0.4202 0.5535 0.5968 0.6482 0.6680 0.6817 0.57 0.41 0.65 0.47 0.54 rs281392 COSM3766397 1(liver);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5741 0.3438 0.3824 0.6840 0.5030 0.5779 0.6313 0.6006 0.6604 0.5567 0.3926 0.4843 0.7333 0.5640 0.6013 0.6370 0.6204 hom 741.97 24 19 49164952 . A G 741.97 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.92;VQSLOD=13.6775;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:63.17:775,63,0 19 49206603 49206603 C T exonic FUT2 synonymous SNV FUT2:NM_000511:exon2:c.C390T:p.N130N,FUT2:NM_001097638:exon2:c.C390T:p.N130N 0.5 0.27 0.51 0.85 0.47 0.46 0.4882 0.2655 0.5677 0.8691 0.5076 0.4612 0.5045 0.4690 0.38 0.26 0.44 0.46 0.38 rs281377 COSM3766398 2(liver) . . . . . Liver enzyme levels (alkaline phosphatase) . 1.80 22001757 rs281377 1E-15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4942 0.2629 0.5560 0.4829 0.8699 0.5072 0.4538 0.4810 0.4729 0.4443 0.2609 0.5465 0.5430 0.8677 0.4986 0.4787 0.5390 hom 2954.42 109 19 49206603 . C T 2954.42 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5763;MQ=49.99;MQ0=8;QD=27.10;VQSLOD=2.9669;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:6,103:109:99:2987,247,0 19 49217261 49217261 A G exonic MAMSTR synonymous SNV MAMSTR:NM_001297753:exon5:c.T261C:p.R87R,MAMSTR:NM_182574:exon6:c.T456C:p.R152R,MAMSTR:NM_001130915:exon8:c.T765C:p.R255R 0.79 0.78 0.82 0.86 0.86 0.65 0.8272 0.7694 0.7831 0.8786 0.8291 0.8640 0.8580 0.7121 0.84 0.76 0.87 0.59 0.66 rs281385 COSM4132239;COSM4132238 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8278 0.7664 0.7880 0.9092 0.8824 0.8294 0.8649 0.8552 0.7085 0.8243 0.7647 0.8194 0.9205 0.875 0.8186 0.8520 0.8436 hom 871.38 27 19 49217261 . A G 871.38 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.27;VQSLOD=9.4409;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:75.22:904,75,0 19 49244219 49244219 C A exonic IZUMO1 synonymous SNV IZUMO1:NM_001321864:exon9:c.G660T:p.A220A,IZUMO1:NM_001321865:exon9:c.G477T:p.A159A,IZUMO1:NM_182575:exon10:c.G999T:p.A333A 0.51 0.32 0.55 0.83 0.45 0.5 0.4787 0.3183 0.5880 0.8453 0.4407 0.4374 0.4945 0.4924 0.4 0.32 0.44 . 0.45 rs2307018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4873 0.3168 0.5758 0.4736 0.8510 0.4432 0.4356 0.4806 0.4974 0.4305 0.3022 0.5659 0.5199 0.8389 0.4283 0.4484 0.4877 het 941.40 78 19 49244219 . C A 941.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.161;DP=78;Dels=0.00;FS=0.880;HRun=0;HaplotypeScore=3.3596;MQ=59.28;MQ0=0;MQRankSum=-0.851;QD=12.07;ReadPosRankSum=-0.871;VQSLOD=5.7742;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,37:78:99:971,0,1114 19 49244220 49244220 G A exonic IZUMO1 nonsynonymous SNV IZUMO1:NM_001321864:exon9:c.C659T:p.A220V,IZUMO1:NM_001321865:exon9:c.C476T:p.A159V,IZUMO1:NM_182575:exon10:c.C998T:p.A333V 0.51 0.32 0.55 0.83 0.45 0.5 0.4787 0.3183 0.5876 0.8456 0.4405 0.4375 0.4945 0.4924 0.4 0.32 0.44 . 0.45 rs2307019 . . . . . . . . . . . . . 0.4 0.105 T 0.001 0.067 B 0.001 0.040 B 0.102 0.026 N 1 0.090 P . . . 1.77 0.258 T -1.13 0.291 N 0.057 0.040 -0.955 0.402 T 0.000 0.000 T . . . 0.257 0.119 5.266 0.812 0.131 0.118 0.167 N c -1.620 -1.643 1.000 0.747 0.652 0.477 0 -0.804 0.103 -0.249 0.088 -1.808 0.006 0.000 0.063 0.000 0.016 5.006 0.135 . ENSG00000182264.4|ENSG00000182264.4|ENSG00000182264.4|ENSG00000182264.4|ENSG00000176920.10|ENSG00000105538.4|ENSG00000182264.4|ENSG00000176920.10|ENSG00000105538.4|ENSG00000182264.4|ENSG00000176909.7|ENSG00000182264.4|ENSG00000176909.7|ENSG00000182264.4|ENSG00000182264.4|ENSG00000182264.4|ENSG00000182264.4|ENSG00000176920.10|ENSG00000182264.4|ENSG00000176920.10|ENSG00000105538.4|ENSG00000142233.7|ENSG00000142233.7|ENSG00000182264.4|ENSG00000176920.10|ENSG00000105538.4|ENSG00000182264.4|ENSG00000176920.10|ENSG00000105538.4|ENSG00000182264.4|ENSG00000182264.4|ENSG00000105538.4|ENSG00000142233.7|ENSG00000182264.4 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid 0.4873 0.3166 0.5757 0.4736 0.8511 0.4431 0.4356 0.4806 0.4974 0.4303 0.3020 0.5659 0.5199 0.8389 0.4278 0.4482 0.4877 het 924.56 79 19 49244220 . G A 924.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.286;DP=79;Dels=0.00;FS=1.985;HRun=0;HaplotypeScore=3.3596;MQ=59.29;MQ0=0;MQRankSum=0.805;QD=11.70;ReadPosRankSum=-0.203;VQSLOD=6.4909;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,39:79:99:955,0,980 19 49247786 49247786 G A exonic IZUMO1 synonymous SNV IZUMO1:NM_182575:exon4:c.C321T:p.F107F 0.5 0.28 0.54 0.84 0.45 0.5 0.4768 0.2802 0.5879 0.8542 0.4455 0.4377 0.4912 0.4938 0.38 0.28 0.44 0.46 0.43 rs8108468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4855 0.2756 0.5737 0.4723 0.8590 0.4468 0.4357 0.4777 0.4983 0.4223 0.2666 0.5598 0.5199 0.8457 0.4330 0.4512 0.4827 het 1272.34 128 19 49247786 . G A 1272.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.024;DP=128;Dels=0.00;FS=2.389;HRun=2;HaplotypeScore=0.0000;MQ=59.16;MQ0=0;MQRankSum=-0.327;QD=9.94;ReadPosRankSum=1.464;VQSLOD=6.0378;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,48:128:99:1302,0,2039 19 49259529 49259529 A G exonic FGF21 synonymous SNV FGF21:NM_019113:exon2:c.A36G:p.G12G 0.77 0.74 0.75 0.99 0.57 0.81 0.6629 0.7014 0.8050 0.9935 0.6146 0.5684 0.6441 0.7668 0.61 0.7 0.56 0.75 0.52 rs838133 . . . . . . . Dietary macronutrient intake . -0.11 23372041 rs838133 8E-9 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6652 0.7046 0.7846 0.5511 0.9949 0.6193 0.5658 0.6367 0.7652 0.6536 0.6954 0.7608 0.5833 0.9981 0.6175 0.5955 0.6575 hom 2031.30 63 19 49259529 . A G 2031.30 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=32.24;VQSLOD=9.3265;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2064,160,0 19 49261368 49261368 T C exonic FGF21 nonsynonymous SNV FGF21:NM_019113:exon4:c.T521C:p.L174P 0.86 0.96 0.82 1. 0.63 0.83 0.7273 0.9025 0.8394 0.9949 0.6661 0.6322 0.6965 0.8022 0.7 0.89 0.6 0.83 0.32 rs739320 COSM439925 2(thyroid);1(large_intestine) . . . . . . . . . . . 0.305 0.142 T 0.0 0.026 B 0.0 0.013 B 0.507 0.119 N 1 0.090 P -1.1 0.010 N -1.52 0.815 D 1.33 0.009 N 0.079 0.071 -1.012 0.264 T 0.000 0.000 T . . . -0.445 0.059 0.300 0.396 0.027 0.005 0.024 N c -1.335 -1.305 0.017 0.129 0.497 0.185 0 0.608 0.167 -0.519 0.063 0.068 0.175 0.000 0.063 0.000 0.016 3.554 0.074 . ENSG00000105538.4|ENSG00000232871.4|ENSG00000176920.10|ENSG00000105538.4|ENSG00000176909.7|ENSG00000182264.4|ENSG00000176920.10|ENSG00000176920.10|ENSG00000142233.7|ENSG00000176920.10|ENSG00000105538.4|ENSG00000176920.10|ENSG00000182264.4|ENSG00000105538.4|ENSG00000142233.7 Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid 0.7278 0.9130 0.8253 0.6567 0.9964 0.6724 0.6271 0.7031 0.8011 0.7493 0.9018 0.8002 0.6689 0.9975 0.6687 0.6527 0.7172 hom 882.13 26 19 49261368 . T C 882.13 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=33.93;VQSLOD=8.7215;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:72.23:915,72,0 19 49438363 49438363 G A exonic DHDH nonsynonymous SNV DHDH:NM_014475:exon2:c.G197A:p.S66N 0.51 0.8 0.43 0.55 0.25 0.41 0.4264 0.7389 0.5490 0.5791 0.4699 0.3081 0.3939 0.4394 0.38 0.7 0.21 0.58 0.066 rs2270941 COSM439936 1(liver);1(large_intestine) . . . . . . . . . . . 0.546 0.518 T 0.0 0.026 B 0.001 0.040 B 0.001 0.437 N 1 0.090 P . . . 2.01 0.213 T 1.52 0.008 N 0.009 0.005 -0.968 0.376 T 0.000 0.000 T . . . 1.583 0.252 13.76 0.931 0.221 0.010 0.038 N c -1.069 -0.869 1.000 0.517 0.615 0.372 0 4.74 0.596 5.207 0.648 0.244 0.267 0.411 0.260 0.992 0.562 8.936 0.347 NAD(P)-binding domain|Oxidoreductase\x2c N-terminal ENSG00000104808.3 Testis 0.3371 0.7342 0.4575 0.2273 0.5147 0.3431 0.2143 0.2967 0.4017 0.4027 0.7280 0.4091 0.2748 0.5236 0.3349 0.2250 0.3067 het 257.53 19 19 49438363 . G A 257.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.939;DP=19;Dels=0.00;FS=4.320;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.592;QD=13.55;ReadPosRankSum=-0.612;VQSLOD=5.6069;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,10:19:99:288,0,174 19 49442849 49442849 - G exonic DHDH frameshift insertion DHDH:NM_014475:exon4:c.511dupG:p.A173Gfs*32 0.25 0.058 0.23 0.54 0.18 0.32 0.2133 0.0814 0.2416 0.5350 0.3092 0.1544 0.2279 0.3060 0.13 0.086 0.15 0.022 . rs397960489 COSM1395144 6(upper_aerodigestive_tract);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2166 0.0808 0.2256 0.1046 0.5363 0.3105 0.1521 0.1963 0.3011 0.1784 0.0830 0.2196 0.1333 0.5513 0.2944 0.1635 0.2143 het 1011.14 87 19 49442849 . T TG 1011.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.947;DP=87;FS=0.000;HRun=7;HaplotypeScore=222.0320;MQ=59.86;MQ0=0;MQRankSum=-0.832;QD=11.62;ReadPosRankSum=-0.052;set=variant2 GT:AD:DP:GQ:PL 0/1:51,36:87:99:1050,0,1053 19 49442933 49442933 T C exonic DHDH synonymous SNV DHDH:NM_014475:exon4:c.T594C:p.S198S 0.45 0.7 0.3 0.57 0.21 0.37 0.2879 0.6411 0.2838 0.5556 0.3137 0.1780 0.2794 0.3627 0.33 0.63 0.17 0.47 0.15 rs2270939 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2797 0.6484 0.2730 0.1861 0.5533 0.3144 0.1723 0.2460 0.3493 0.3472 0.6358 0.2638 0.2252 0.5678 0.2986 0.1806 0.2561 het 2783.61 206 19 49442933 . T C 2783.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.189;DP=206;Dels=0.00;FS=1.087;HRun=1;HaplotypeScore=1.9861;MQ=59.50;MQ0=0;MQRankSum=0.616;QD=13.51;ReadPosRankSum=1.585;VQSLOD=6.4607;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,109:206:99:2814,0,2585 19 49445817 49445817 T C exonic DHDH nonsynonymous SNV DHDH:NM_014475:exon5:c.T740C:p.V247A 0.45 0.7 0.3 0.57 0.21 0.37 0.2877 0.6385 0.2841 0.5565 0.3177 0.1782 0.2798 0.3569 0.33 0.63 0.17 0.47 0.16 rs11666105 COSM3757029 1(breast);1(large_intestine) . . . . . . . . . . . 0.355 0.139 T 0.0 0.026 B 0.002 0.063 B 0.001 0.415 N 1 0.460 P -0.705 0.018 N 1.9 0.235 T -2.62 0.563 D 0.026 0.015 -0.999 0.302 T 0.000 0.000 T . . . 0.573 0.149 7.969 0.650 0.074 0.145 0.182 N c -0.882 -0.743 0.005 0.109 0.554 0.283 0 2.52 0.294 2.931 0.484 -0.583 0.045 0.992 0.373 0.896 0.378 4.394 0.107 . . . 0.2795 0.6452 0.2730 0.1858 0.5536 0.3142 0.1721 0.2454 0.3494 0.3466 0.6327 0.2649 0.2252 0.5713 0.2984 0.1801 0.2582 het 880.38 66 19 49445817 . T C 880.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.203;DP=66;Dels=0.00;FS=3.589;HRun=0;HaplotypeScore=0.9665;MQ=59.30;MQ0=0;MQRankSum=-1.015;QD=13.34;ReadPosRankSum=0.385;VQSLOD=5.9480;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:910,0,907 19 49469087 49469087 T C exonic FTL synonymous SNV FTL:NM_000146:exon2:c.T163C:p.L55L 0.46 0.48 0.5 0.42 0.54 0.36 0.4979 0.4804 0.5255 0.4258 0.4455 0.5372 0.4934 0.3898 0.52 0.47 0.54 0.54 0.55 rs2230267 COSM3757030 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Likely pathogenic|Benign|Benign|Benign|Benign sporadic_abdominal_aortic_aneurysm|not_specified|Neuroferritinopathy|Hyperferritinemia_cataract_syndrome|Glycogen_storage_disease_0\x2c_muscle RCV000144503.1|RCV000146000.2|RCV000315169.1|RCV000369896.1|RCV000370536.1 MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet CN220053|CN169374|C1853578:606159:ORPHA157846|C1833213:600886:ORPHA163|C1969054:611556:ORPHA137625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.4800 0.5251 0.5710 0.4256 0.4410 0.5400 0.5175 0.3961 0.5070 0.4821 0.5144 0.5728 0.4036 0.4625 0.5413 0.5061 hom 4540.15 134 19 49469087 . T C 4540.15 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;QD=33.88;VQSLOD=8.9753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4540,364,0 19 49485548 49485548 G A exonic GYS1 synonymous SNV GYS1:NM_001161587:exon6:c.C834T:p.F278F,GYS1:NM_002103:exon7:c.C1026T:p.F342F 0.25 0.29 0.26 0.22 0.29 0.2 0.2697 0.2893 0.2444 0.2030 0.2673 0.2971 0.2963 0.1988 0.29 0.28 0.29 0.32 0.31 rs5464 . . Benign|Benign Glycogen_storage_disease_0\x2c_muscle|not_specified RCV000305166.1|RCV000438753.1 MedGen:OMIM:Orphanet|MedGen C1969054:611556:ORPHA137625|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2686 0.2878 0.2496 0.2986 0.1987 0.2636 0.2970 0.2858 0.2066 0.2880 0.2879 0.2673 0.2848 0.1879 0.2831 0.3005 0.3006 het 1732.82 157 19 49485548 . G A 1732.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.022;DP=157;Dels=0.00;FS=8.401;HRun=2;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=1.253;QD=11.04;ReadPosRankSum=-0.276;VQSLOD=4.7564;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,67:157:99:1763,0,2414 19 49519466 49519466 A G exonic LHB synonymous SNV LHB:NM_000894:exon3:c.T285C:p.G95G 0.59 0.74 0.65 0.34 0.63 0.55 0.6048 0.7302 0.7200 0.3231 0.6287 0.6124 0.6527 0.5493 0.65 0.72 0.61 0.67 0.6 rs1056917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6096 0.7299 0.7263 0.5825 0.3249 0.6328 0.6143 0.6218 0.5547 0.6418 0.7238 0.6897 0.5927 0.3195 0.6352 0.6279 0.6537 hom 5323.18 171 19 49519466 . A G 5323.18 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5585;MQ=59.24;MQ0=0;QD=31.13;VQSLOD=9.0953;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5322,445,0 19 49573438 49573438 A G exonic KCNA7 nonsynonymous SNV KCNA7:NM_031886:exon2:c.T1253C:p.M418T 0.37 0.48 0.32 0.34 0.33 0.32 0.3678 0.4639 0.3918 0.3506 0.3499 0.3634 0.3333 0.3261 0.39 0.46 0.35 0.49 0.36 rs1017219 COSM4000817 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.784 0.032 T 0.0 0.026 B 0.0 0.013 B 0.741 0.098 N 1.000 0.207 P -1.445 0.006 N -4.39 0.974 D 1.88 0.005 N 0.089 0.086 -0.998 0.305 T 0.000 0.000 T . . . -0.166 0.079 1.291 0.530 0.048 0.147 0.183 N c -0.862 -0.613 0.005 0.110 0.598 0.340 0 3.23 0.360 1.220 0.319 0.098 0.198 0.553 0.271 0.998 0.697 11.681 0.505 . ENSG00000104852.10|ENSG00000225950.3|ENSG00000104852.10 Adipose_Subcutaneous|Muscle_Skeletal|Nerve_Tibial 0.3624 0.4658 0.3852 0.3026 0.3432 0.3434 0.3644 0.3474 0.3252 0.4022 0.4796 0.3914 0.3179 0.3548 0.3384 0.3799 0.3947 het 1790.51 136 19 49573438 . A G 1790.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.441;DP=136;Dels=0.00;FS=9.352;HRun=0;HaplotypeScore=4.7523;MQ=60.00;MQ0=0;MQRankSum=0.843;QD=13.17;ReadPosRankSum=-1.253;VQSLOD=4.3165;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,73:136:99:1821,0,1858 19 49574125 49574125 G C exonic KCNA7 nonsynonymous SNV KCNA7:NM_031886:exon2:c.C566G:p.P189R 0.37 0.48 0.32 0.33 0.33 0.32 0.3740 0.4737 0.3934 0.3484 0.3593 0.3676 0.3493 0.3434 0.38 0.46 0.34 0.5 0.33 rs1611775 . . . . . . . . . . . . . 0.722 0.039 T 0.0 0.026 B 0.001 0.040 B 0.073 0.023 N 1 0.090 P -0.785 0.016 N -4.42 0.975 D 0.65 0.023 N 0.06 0.044 -0.942 0.423 T 0.000 0.000 T . . . 0.581 0.150 8.023 0.356 0.022 0.002 0.011 N c -1.108 -1.018 0.013 0.124 0.598 0.340 0 3.5 0.390 0.164 0.162 -0.015 0.131 0.003 0.159 0.789 0.333 6.492 0.212 Ion transport domain|Voltage-dependent channel\x2c four helix bundle domain ENSG00000104852.10|ENSG00000225950.3|ENSG00000104852.10 Adipose_Subcutaneous|Muscle_Skeletal|Nerve_Tibial 0.3610 0.4667 0.3845 0.3017 0.3401 0.3424 0.3622 0.3468 0.3247 0.4016 0.4803 0.3938 0.3146 0.3497 0.3381 0.3791 0.3914 het 444.49 26 19 49574125 . G C 444.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.910;DP=26;Dels=0.00;FS=2.287;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.862;QD=17.10;ReadPosRankSum=-0.162;VQSLOD=5.2894;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,17:26:99:474,0,261 19 49621964 49621964 T C exonic C19orf73 nonsynonymous SNV C19orf73:NM_018111:exon1:c.A316G:p.S106G 0.7 0.78 0.66 0.53 0.8 0.68 0.7543 0.7568 0.6982 0.5614 0.6909 0.8027 0.7533 0.7228 0.78 0.75 0.8 0.75 0.7 rs2232003 COSM4000819;COSM4000818 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 0.59 0.540 T 5.17 0.000 N 0.014 0.002 -1.018 0.243 T 0.000 0.000 T . . . -0.067 0.087 1.988 0.775 0.115 0.004 0.019 N c -1.194 -1.205 1.000 0.747 0.685 0.552 0 0.441 0.157 0.026 0.134 0.027 0.148 0.000 0.063 0.002 0.062 3.870 0.085 . ENSG00000104863.7|ENSG00000189052.6|ENSG00000213030.4|ENSG00000177380.9 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen 0.7473 0.7528 0.6967 0.8324 0.5536 0.6845 0.8037 0.7657 0.7193 0.7533 0.7501 0.7261 0.8411 0.5728 0.6857 0.7905 0.7505 hom 4566.03 148 19 49621964 . T C 4566.03 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6904;MQ=59.18;MQ0=0;QD=30.85;VQSLOD=8.3711;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4565,370,0 19 49640002 49640002 G T exonic PPFIA3 nonsynonymous SNV PPFIA3:NM_003660:exon15:c.G1687T:p.A563S 0.44 0.56 0.46 0.22 0.45 0.5 0.5478 0.5917 0.5973 0.3131 0.5742 0.5403 0.5307 0.6225 0.49 0.55 0.46 0.46 0.25 rs2303053 COSM4132251 1(breast);2(thyroid) . . . . . . . . . . . 0.203 0.201 T 0.035 0.192 B 0.015 0.162 B 0.079 0.210 U 0.138 0.354 P 0.82 0.209 L 0.88 0.460 T -1.17 0.299 N 0.053 0.058 -0.923 0.452 T 0.000 0.000 T . . . 1.874 0.286 15.43 0.968 0.306 0.470 0.276 N c -0.737 -0.711 1.000 0.517 0.635 0.413 0 1.15 0.198 1.400 0.340 0.120 0.210 0.096 0.225 0.875 0.366 8.643 0.330 . ENSG00000104863.7|ENSG00000177380.9|ENSG00000130529.11 Muscle_Skeletal|Pituitary|Spleen 0.4478 0.5486 0.4910 0.5241 0.2021 0.4370 0.4363 0.4562 0.5223 0.4618 0.5488 0.4976 0.49 0.2141 0.4393 0.4434 0.4196 het 115.58 10 19 49640002 . G T 115.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DP=10;Dels=0.00;FS=2.808;HRun=1;HaplotypeScore=3.9831;MQ=55.49;MQ0=0;MQRankSum=-0.248;QD=11.56;ReadPosRankSum=0.573;VQSLOD=2.5449;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:3,6:10:93.80:146,0,94 19 49657711 49657713 CAT - exonic HRC nonframeshift deletion HRC:NM_002152:exon1:c.782_784del:p.D261del 0.36 0.32 0.45 0.24 0.41 0.42 0.3764 0.2946 0.4892 0.2479 0.3221 0.3832 0.3710 0.4174 . . . . . rs66501117 COSM1631013 1(liver);13(upper_aerodigestive_tract);2(large_intestine) Likely benign Progressive_familial_heart_block RCV000397811.1 MedGen:Orphanet CN206278:ORPHA871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3675 0.2938 0.4576 0.3847 0.2509 0.3137 0.3696 0.3793 0.3998 0.3747 0.3310 0.4974 0.3696 0.2504 0.3546 0.4102 0.3885 het 678.28 91 19 49657710 . ACAT A 678.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.189;DP=91;FS=1.237;HRun=0;HaplotypeScore=337.6399;MQ=59.56;MQ0=0;MQRankSum=0.902;QD=7.45;ReadPosRankSum=-0.074;set=variant2 GT:AD:DP:GQ:PL 0/1:69,21:91:99:717,0,772 19 49658209 49658209 A C exonic HRC nonsynonymous SNV HRC:NM_002152:exon1:c.T286G:p.S96A 0.35 0.28 0.44 0.25 0.41 0.43 0.4053 0.2920 0.5321 0.2612 0.3413 0.4120 0.3921 0.4621 0.39 0.29 0.43 0.37 0.39 rs3745297 COSM4000822 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.143 0.253 T 0.037 0.195 B 0.023 0.188 B . . . 1 0.090 P 2.265 0.646 M 3.29 0.065 T -1.68 0.401 N 0.115 0.126 -0.982 0.345 T 0.000 0.000 T . . . 0.379 0.131 6.429 0.785 0.119 0.306 0.239 N c -1.109 -1.193 1.000 0.747 0.497 0.185 0 0.693 0.171 0.695 0.250 -0.713 0.037 0.222 0.243 0.030 0.147 6.294 0.202 . ENSG00000130529.11 Spleen 0.4098 0.2906 0.5144 0.4358 0.2558 0.3338 0.4180 0.4241 0.4556 0.3612 0.2938 0.4976 0.3543 0.2522 0.3400 0.4097 0.3624 het 2728.60 179 19 49658209 . A C 2728.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.185;DP=179;Dels=0.00;FS=7.717;HRun=0;HaplotypeScore=10.4476;MQ=59.00;MQ0=0;MQRankSum=-0.042;QD=15.24;ReadPosRankSum=0.352;VQSLOD=3.6459;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,104:179:99:2759,0,1952 19 49658367 49658367 C T exonic HRC nonsynonymous SNV HRC:NM_002152:exon1:c.G128A:p.S43N 0.47 0.6 0.51 0.31 0.43 0.48 0.4590 0.5849 0.5733 0.3091 0.3633 0.4368 0.4405 0.5071 0.49 0.57 0.45 0.48 0.34 rs3745298 COSM4132253 1(pancreas);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.63 0.004 N 3.21 0.071 T 2.16 0.003 N 0.014 0.002 -0.963 0.387 T 0.000 0.000 T . . . -1.572 0.015 0.002 0.641 0.072 0.006 0.028 N c -1.521 -1.417 1.000 0.747 0.497 0.185 0 0.99 0.188 0.070 0.143 0.079 0.188 0.000 0.063 0.275 0.232 2.545 0.044 . ENSG00000177380.9 Spleen 0.4596 0.5862 0.5564 0.5120 0.3035 0.3569 0.4407 0.4697 0.5023 0.4605 0.5775 0.5359 0.4669 0.3069 0.3672 0.4310 0.3912 het 1435.39 145 19 49658367 . C T 1435.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.538;DP=145;Dels=0.00;FS=0.629;HRun=1;HaplotypeScore=5.1477;MQ=59.02;MQ0=0;MQRankSum=-0.793;QD=9.90;ReadPosRankSum=1.108;VQSLOD=5.0359;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,58:145:99:1465,0,2509 19 49658390 49658390 T C exonic HRC synonymous SNV HRC:NM_002152:exon1:c.A105G:p.L35L 0.47 0.63 0.48 0.3 0.41 0.48 0.4412 0.5896 0.5497 0.2940 0.3359 0.4104 0.4139 0.5167 0.48 0.58 0.43 0.47 0.37 rs3745299 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4404 0.5973 0.5328 0.4376 0.2893 0.3281 0.4170 0.4412 0.5124 0.4465 0.5891 0.5203 0.3675 0.2891 0.3360 0.4083 0.3763 het 1127.50 123 19 49658390 . T C 1127.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.508;DP=123;Dels=0.00;FS=3.562;HRun=2;HaplotypeScore=3.2421;MQ=59.34;MQ0=0;MQRankSum=-0.197;QD=9.17;ReadPosRankSum=0.932;VQSLOD=5.7073;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,45:123:99:1157,0,2133 19 49839015 49839015 T C exonic CD37 synonymous SNV CD37:NM_001774:exon2:c.T114C:p.I38I 0.84 0.96 0.86 0.81 0.75 0.81 0.8032 0.9349 0.8924 0.8087 0.6783 0.7711 0.8113 0.8344 0.81 0.93 0.76 0.84 0.68 rs354021 COSM1751059;COSM1751060 2(urinary_tract);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7998 0.9365 0.8822 0.8392 0.8082 0.6821 0.7646 0.8047 0.8356 0.7975 0.9281 0.8580 0.8567 0.8049 0.6869 0.7449 0.75 het 2727.75 247 19 49839015 . T C 2727.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.921;DP=247;DS;Dels=0.00;FS=1.688;HRun=0;HaplotypeScore=4.4794;MQ=59.37;MQ0=0;MQRankSum=-0.498;QD=11.04;ReadPosRankSum=-0.228;VQSLOD=5.7489;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:134,113:247:99:2758,0,3869 19 49867913 49867913 G A exonic DKKL1 nonsynonymous SNV DKKL1:NM_001197301:exon2:c.G85A:p.A29T,DKKL1:NM_014419:exon2:c.G85A:p.A29T 0.26 0.35 0.21 0.18 0.31 0.21 0.2686 0.3225 0.1476 0.1737 0.3510 0.3054 0.2461 0.1886 0.32 0.32 0.32 0.22 0.25 rs919364 COSM5001917 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.686 0.061 N 1 0.090 P -0.895 0.014 N 2.64 0.133 T 0.89 0.016 N 0.014 0.002 -0.938 0.429 T 0.000 0.000 T . . . 0.584 0.150 8.042 0.880 0.171 0.003 0.018 N c -1.502 -1.434 1.000 0.517 0.581 0.326 0 -0.557 0.112 -1.843 0.018 -0.294 0.082 0.000 0.063 0.739 0.319 0.264 0.002 . ENSG00000161609.5|ENSG00000161609.5|ENSG00000104901.2|ENSG00000161609.5|ENSG00000104894.7|ENSG00000074219.9|ENSG00000104901.2|ENSG00000063127.11|ENSG00000197813.4 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_Transformed_fibroblasts|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Spleen|Whole_Blood 0.2665 0.3269 0.1630 0.2533 0.1700 0.3471 0.3108 0.2739 0.1876 0.3142 0.3256 0.1897 0.2152 0.1764 0.3440 0.3243 0.3180 het 1650.74 123 19 49867913 . G A 1650.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.434;DP=123;Dels=0.00;FS=1.524;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=0.899;QD=13.42;ReadPosRankSum=-0.745;VQSLOD=6.5978;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,60:123:99:1681,0,1530 19 49869051 49869051 T G exonic DKKL1 nonsynonymous SNV DKKL1:NM_001197302:exon4:c.T101G:p.M34R,DKKL1:NM_014419:exon4:c.T326G:p.M109R 0.32 0.29 0.25 0.34 0.24 0.47 0.2947 0.2912 0.2284 0.3393 0.1643 0.2737 0.2991 0.4582 0.27 0.29 0.26 0.37 0.25 rs2303759 COSM5427912 1(haematopoietic_and_lymphoid_tissue) . . . . . Multiple sclerosis 1.11 . 21833088 rs2303759 5E-9 0.002 0.721 D 0.378 0.325 B 0.101 0.292 B 0.195 0.167 N 0.000 0.499 P 0.695 0.181 N 2.25 0.229 T -3.32 0.660 D 0.149 0.228 -0.940 0.426 T 0.000 0.000 T . . . 3.508 0.479 23.1 0.975 0.338 0.894 0.496 D c -0.178 -0.053 0.992 0.325 0.615 0.372 0 4.35 0.513 4.017 0.566 0.964 0.580 1.000 0.715 0.902 0.382 10.128 0.416 . ENSG00000268686.1|ENSG00000104901.2|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000268686.1|ENSG00000268686.1|ENSG00000104901.2|ENSG00000161609.5|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000161609.5|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000104894.7|ENSG00000104901.2|ENSG00000161609.5|ENSG00000104901.2|ENSG00000104901.2|ENSG00000104894.7|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104894.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Whole_Blood 0.2858 0.2905 0.2275 0.3085 0.3404 0.1679 0.2689 0.2803 0.4569 0.2586 0.2831 0.2440 0.3278 0.3263 0.1701 0.2573 0.2577 het 675.58 68 19 49869051 . T G 675.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.177;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8055;MQ=58.59;MQ0=1;MQRankSum=2.020;QD=9.93;ReadPosRankSum=-0.608;VQSLOD=5.8099;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,24:68:99:706,0,1188 19 49878115 49878115 G A exonic DKKL1 nonsynonymous SNV DKKL1:NM_001197301:exon4:c.G466A:p.G156S,DKKL1:NM_001197302:exon5:c.G334A:p.G112S,DKKL1:NM_014419:exon5:c.G559A:p.G187S 0.32 0.28 0.25 0.34 0.24 0.46 0.2958 0.2857 0.2302 0.3408 0.1659 0.2753 0.3034 0.4554 0.27 0.28 0.26 0.37 0.21 rs1054770 COSM4000824 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.208 0.198 T 0.168 0.270 B 0.02 0.179 B 0.905 0.086 N 1 0.090 P 0.77 0.194 N 1.56 0.296 T -1.14 0.293 N 0.056 0.144 -0.940 0.426 T 0.000 0.000 T . . . 0.927 0.183 10.24 0.902 0.189 0.012 0.043 N c -1.089 -1.194 0.000 0.041 0.657 0.484 0 -3.2 0.048 -1.903 0.017 -0.525 0.049 0.000 0.063 0.014 0.122 8.801 0.339 . ENSG00000268686.1|ENSG00000104901.2|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000268686.1|ENSG00000268686.1|ENSG00000104901.2|ENSG00000161609.5|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000161609.5|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000104894.7|ENSG00000104901.2|ENSG00000161609.5|ENSG00000104901.2|ENSG00000104901.2|ENSG00000104894.7|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104894.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Whole_Blood 0.2851 0.2818 0.2277 0.3086 0.3404 0.1682 0.2685 0.2788 0.4553 0.2556 0.2745 0.2422 0.3278 0.3229 0.1699 0.2566 0.2582 het 798.52 41 19 49878115 . G A 798.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.712;DP=41;Dels=0.00;FS=14.261;HRun=0;HaplotypeScore=0.9665;MQ=58.98;MQ0=0;MQRankSum=-1.051;QD=19.48;ReadPosRankSum=-0.406;VQSLOD=2.3932;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,28:41:99:829,0,254 19 49878196 49878196 G A exonic DKKL1 nonsynonymous SNV DKKL1:NM_001197301:exon4:c.G547A:p.E183K,DKKL1:NM_001197302:exon5:c.G415A:p.E139K,DKKL1:NM_014419:exon5:c.G640A:p.E214K 0.26 0.2 0.2 0.33 0.21 0.37 0.2498 0.2115 0.1892 0.3283 0.1458 0.2424 0.2704 0.3438 0.22 0.2 0.23 0.28 0.21 rs2288481 COSM3757037 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.573 0.368 P 0.23 0.365 B 0.127 0.188 N 1 0.090 P 1.83 0.482 L 1.3 0.356 T -1.13 0.291 N 0.133 0.166 -0.913 0.465 T 0.000 0.000 T . . . 1.439 0.236 12.99 0.994 0.623 0.049 0.106 N c -0.521 -0.613 0.000 0.052 0.657 0.484 0 3.09 0.345 0.392 0.204 0.118 0.209 0.014 0.188 0.005 0.090 10.030 0.411 . ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000161609.5|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000161609.5|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000104901.2|ENSG00000161609.5|ENSG00000104901.2|ENSG00000243829.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104901.2|ENSG00000268686.1|ENSG00000104894.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Whole_Blood 0.2405 0.2023 0.1874 0.2776 0.3266 0.1464 0.2348 0.2361 0.3459 0.2144 0.1970 0.2062 0.2980 0.3138 0.1506 0.2268 0.2263 het 777.05 55 19 49878196 . G A 777.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.615;DP=55;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8315;MQ=58.90;MQ0=0;MQRankSum=-0.528;QD=14.13;ReadPosRankSum=-0.667;VQSLOD=5.8528;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,29:55:99:807,0,672 19 49894152 49894152 C T exonic CCDC155 synonymous SNV CCDC155:NM_144688:exon2:c.C12T:p.P4P 0.51 0.46 0.39 0.51 0.49 0.66 0.5113 0.4823 0.3510 0.5193 0.5016 0.5137 0.5071 0.6270 0.49 0.46 0.51 0.53 . rs7256629 COSM5428500 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4928 0.4695 0.3450 0.4959 0.5075 0.4835 0.5040 0.4804 0.6173 0.4928 0.4677 0.3902 0.4934 0.5031 0.4805 0.5136 0.5112 hom 970.38 32 19 49894152 . C T 970.38 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.32;VQSLOD=13.1596;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:78.24:1003,78,0 19 49901318 49901318 T C exonic CCDC155 synonymous SNV CCDC155:NM_144688:exon7:c.T547C:p.L183L 0.57 0.63 0.46 0.51 0.52 0.68 0.5466 0.6099 0.4493 0.5161 0.5235 0.5369 0.5292 0.6424 0.57 0.61 0.55 0.58 . rs10421748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5395 0.6124 0.4556 0.5122 0.5115 0.5229 0.5381 0.5172 0.6399 0.5551 0.6000 0.4773 0.5066 0.5050 0.5230 0.5480 0.5443 hom 863.43 28 19 49901318 . T C 863.43 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=30.84;VQSLOD=9.3533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:69.22:896,69,0 19 49950298 49950298 C T exonic PIH1D1 nonsynonymous SNV PIH1D1:NM_017916:exon7:c.G670A:p.V224I 0.69 0.93 0.64 0.42 0.75 0.61 0.7139 0.9031 0.5889 0.3985 0.6812 0.7683 0.7533 0.6383 0.81 0.89 0.77 0.79 0.67 rs13394 COSM1751065 1(urinary_tract);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.513 N 1 0.090 P -1.245 0.008 N 2.36 0.161 T 0.62 0.024 N 0.027 0.009 -0.964 0.385 T 0.000 0.000 T . . . 1.143 0.204 11.45 0.764 0.111 0.084 0.142 N c -0.895 -0.702 0.994 0.335 0.672 0.522 0 2.67 0.306 -0.149 0.101 -0.208 0.100 0.080 0.221 0.981 0.494 5.949 0.184 . ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.7067 0.9068 0.6026 0.8037 0.4064 0.6788 0.7698 0.7360 0.6427 0.7704 0.9047 0.6253 0.7682 0.3978 0.6775 0.7651 0.7219 het 2960.13 231 19 49950298 . C T 2960.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.366;DP=231;Dels=0.00;FS=0.479;HRun=2;HaplotypeScore=10.5736;MQ=59.54;MQ0=0;MQRankSum=0.334;QD=12.81;ReadPosRankSum=-0.133;VQSLOD=4.2271;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,114:231:99:2990,0,2914 19 49950356 49950356 C G exonic PIH1D1 synonymous SNV PIH1D1:NM_017916:exon7:c.G612C:p.G204G 0.68 0.9 0.64 0.41 0.75 0.61 0.7105 0.8740 0.5882 0.3856 0.6812 0.7683 0.7511 0.6385 0.8 0.86 0.77 0.77 0.61 rs12443 COSM1162800 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7036 0.8767 0.6018 0.8034 0.3914 0.6790 0.7696 0.7336 0.6426 0.7609 0.8740 0.6241 0.7682 0.3850 0.6780 0.7648 0.7214 het 1975.21 126 19 49950356 . C G 1975.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DP=126;Dels=0.00;FS=5.918;HRun=2;HaplotypeScore=2.4021;MQ=59.82;MQ0=0;MQRankSum=-0.115;QD=15.68;ReadPosRankSum=0.967;VQSLOD=4.4762;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,68:126:99:2005,0,1758 19 49954803 49954803 C T exonic PIH1D1 nonsynonymous SNV PIH1D1:NM_017916:exon1:c.G29A:p.G10E 0.61 0.65 0.61 0.41 0.75 0.61 0.6862 0.6312 0.5722 0.3870 0.6769 0.7658 0.7411 0.6368 0.72 0.62 0.77 0.63 0.43 rs2293013 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.225 0.160 N 1 0.090 P -0.55 0.024 N 2.94 0.278 T 1.49 0.007 N 0.108 0.115 -0.997 0.308 T 0.000 0.000 T . . . -0.282 0.070 0.731 0.898 0.185 0.005 0.025 N c -1.106 -0.938 1.000 0.747 0.442 0.072 0 3.85 0.434 0.888 0.277 0.148 0.236 0.344 0.255 0.051 0.165 7.647 0.273 . ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.6846 0.6291 0.5865 0.8026 0.3969 0.6753 0.7675 0.7240 0.6416 0.6868 0.6233 0.6034 0.7649 0.3839 0.6755 0.7607 0.7130 het 1246.81 130 19 49954803 . C T 1246.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.989;DP=130;Dels=0.00;FS=5.702;HRun=0;HaplotypeScore=3.4680;MQ=58.36;MQ0=0;MQRankSum=1.440;QD=9.59;ReadPosRankSum=0.464;VQSLOD=4.8003;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,53:130:99:1277,0,2022 19 49954807 49954807 T G exonic PIH1D1 nonsynonymous SNV PIH1D1:NM_017916:exon1:c.A25C:p.M9L 0.61 0.65 0.61 0.41 0.75 0.61 0.6862 0.6314 0.5724 0.3867 0.6769 0.7658 0.7411 0.6367 0.72 0.62 0.77 0.63 0.43 rs2293012 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.680 0.061 N 1 0.090 P -0.345 0.033 N 2.87 0.288 T -0.34 0.127 N 0.033 0.013 -1.027 0.215 T 0.000 0.000 T . . . -1.000 0.032 0.016 0.681 0.083 0.002 0.012 N c -1.238 -1.182 1.000 0.747 0.442 0.072 0 1.33 0.209 0.441 0.212 0.134 0.217 0.008 0.178 0.003 0.074 2.806 0.051 . ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.6845 0.6291 0.5864 0.8027 0.3967 0.6750 0.7674 0.7242 0.6416 0.6870 0.6233 0.6034 0.7649 0.3854 0.6755 0.7609 0.7130 het 1277.13 126 19 49954807 . T G 1277.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.341;DP=126;Dels=0.00;FS=11.021;HRun=0;HaplotypeScore=5.0459;MQ=58.31;MQ0=0;MQRankSum=0.696;QD=10.14;ReadPosRankSum=1.229;VQSLOD=3.8370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,50:126:99:1307,0,1944 19 49964977 49964977 C G exonic ALDH16A1 nonsynonymous SNV ALDH16A1:NM_001145396:exon6:c.C679G:p.L227V,ALDH16A1:NM_153329:exon6:c.C679G:p.L227V 0.51 0.53 0.42 0.32 0.71 0.54 0.6222 0.5573 0.3555 0.3120 0.6744 0.7219 0.6934 0.5820 0.65 0.52 0.72 0.4 0.52 rs1320303 COSM1751066 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.002 0.080 B 0.762 0.096 N 1 0.090 P -1.37 0.006 N 1.93 0.229 T 2.24 0.003 N 0.039 0.034 -0.978 0.355 T 0.000 0.000 T . . . -2.251 0.005 0.001 0.093 0.001 0.014 0.048 N c -2.052 -2.080 1.000 0.747 0.732 0.924 0 -9.23 0.006 -3.161 0.006 -0.689 0.038 0.000 0.063 0.320 0.241 13.206 0.591 Aldehyde dehydrogenase N-terminal domain|Aldehyde dehydrogenase domain|Aldehyde/histidinol dehydrogenase ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000161618.5|ENSG00000104872.6|ENSG00000104872.6|ENSG00000161618.5|ENSG00000161618.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.5999 0.5266 0.3680 0.7073 0.2941 0.6517 0.7177 0.6433 0.5696 0.6215 0.5260 0.3995 0.6689 0.2856 0.6616 0.7131 0.6577 het 166.95 10 19 49964977 . C G 166.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.69;MQ0=0;MQRankSum=1.386;QD=16.70;ReadPosRankSum=0.296;VQSLOD=6.3679;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:54.56:197,0,55 19 49967680 49967680 G A exonic ALDH16A1 synonymous SNV ALDH16A1:NM_001145396:exon10:c.G1185A:p.Q395Q,ALDH16A1:NM_153329:exon11:c.G1338A:p.Q446Q 0.31 0.13 0.22 0.34 0.42 0.49 0.4391 0.2023 0.3131 0.3554 0.4926 0.4678 0.4947 0.5175 0.33 0.17 0.41 0.27 0.39 rs2293009 COSM3766404 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3762 0.1581 0.2166 0.5205 0.3047 0.4014 0.4108 0.3944 0.4992 0.3441 0.1698 0.2644 0.4933 0.2945 0.4129 0.4321 0.4143 het 158.59 12 19 49967680 . G A 158.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.378;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.259;QD=13.22;ReadPosRankSum=0.779;VQSLOD=11.9503;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:189,0,151 19 50119361 50119361 C T exonic PRR12 synonymous SNV PRR12:NM_020719:exon9:c.C5382T:p.P1794P 0.0028 0.0015 0.0058 . 0.008 . 0.0143 0.0017 0.0219 0 0.0214 0.0233 0.0215 0.0020 0.006 0.0012 0.0084 0.011 . rs192948887 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0076 0.0017 0.0061 0.0040 0 0.0118 0.0115 0.0086 0.0015 0.0083 0.0025 0.0143 0.0033 0 0.0152 0.0104 0.0122 het 188.17 19 19 50119361 . C T 188.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=19;Dels=0.00;FS=1.871;HRun=0;HaplotypeScore=0.0000;MQ=58.01;MQ0=0;MQRankSum=0.124;QD=9.90;ReadPosRankSum=-0.041;VQSLOD=3.4827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,8:19:99:218,0,252 19 50140092 50140092 G A exonic RRAS synonymous SNV RRAS:NM_006270:exon3:c.C333T:p.N111N 0.74 0.78 0.8 0.83 0.7 0.58 0.7034 0.7738 0.8420 0.8169 0.6956 0.6770 0.6954 0.6127 0.7 0.76 0.66 0.81 0.58 rs1865077 COSM3757043 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7062 0.7757 0.8280 0.6367 0.8187 0.7031 0.6749 0.6913 0.6166 0.7243 0.7670 0.8329 0.6577 0.8284 0.6881 0.6947 0.6814 het 2189.01 192 19 50140092 . G A 2189.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.039;DP=192;Dels=0.00;FS=4.150;HRun=0;HaplotypeScore=5.8095;MQ=59.42;MQ0=0;MQRankSum=0.482;QD=11.40;ReadPosRankSum=-0.091;VQSLOD=5.0165;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,89:192:99:2219,0,2767 19 50243171 50243171 C T exonic TSKS synonymous SNV TSKS:NM_021733:exon11:c.G1641A:p.L547L 0.0082 0.0008 0.014 . 0.03 . 0.0158 0.0031 0.0088 0 0.0218 0.0236 0.0144 0.0031 0.015 0.0032 0.021 0.011 0.016 rs79485806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0152 0.0027 0.0134 0.0091 0 0.0171 0.0233 0.0179 0.0027 0.0164 0.0046 0.0156 0.0099 0 0.0181 0.0243 0.0245 het 2292.97 179 19 50243171 . C T 2292.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.527;DP=179;Dels=0.00;FS=3.449;HRun=0;HaplotypeScore=12.3628;MQ=59.27;MQ0=0;MQRankSum=-0.163;QD=12.81;ReadPosRankSum=-0.290;VQSLOD=2.8984;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:92,87:179:99:2323,0,2790 19 50383591 50383591 A G exonic TBC1D17 nonsynonymous SNV TBC1D17:NM_001168222:exon3:c.A152G:p.D51G,TBC1D17:NM_024682:exon4:c.A251G:p.D84G 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 1. 1. rs8109661 COSM4590136 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 2782.70 92 19 50383591 . A G 2782.70 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7377;MQ=59.55;MQ0=0;QD=30.25;VQSLOD=9.1222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2816,217,0 19 50383636 50383636 T C exonic TBC1D17 nonsynonymous SNV TBC1D17:NM_001168222:exon3:c.T197C:p.L66P,TBC1D17:NM_024682:exon4:c.T296C:p.L99P 0.54 0.68 0.49 0.42 0.42 0.64 0.4827 0.6642 0.5206 0.4379 0.3926 0.4256 0.4540 0.6317 0.49 0.64 0.42 0.45 0.34 rs3745486 COSM3757049 1(large_intestine) . . . . . . . . . . . 0.793 0.032 T 0.0 0.026 B 0.0 0.013 B 0.415 0.129 N 1 0.090 P -2.265 0.001 N 1.6 0.286 T 1.21 0.011 N 0.008 0.030 -0.971 0.369 T 0.000 0.000 T . . . -0.523 0.054 0.193 0.545 0.050 0.010 0.037 N c -1.255 -1.186 0.732 0.230 0.672 0.522 0 1.92 0.248 0.903 0.279 0.069 0.176 0.005 0.169 0.099 0.189 1.140 0.016 Domain of unknown function DUF3548 ENSG00000039650.5|ENSG00000104946.6|ENSG00000196961.8|ENSG00000204673.6|ENSG00000039650.5 Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Whole_Blood 0.4797 0.6741 0.5187 0.5036 0.4394 0.3917 0.4237 0.4537 0.6266 0.4801 0.6639 0.5179 0.4669 0.4509 0.3691 0.4050 0.4092 het 1076.10 75 19 50383636 . T C 1076.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.216;DP=75;Dels=0.00;FS=3.266;HRun=1;HaplotypeScore=0.0000;MQ=58.39;MQ0=0;MQRankSum=1.429;QD=14.35;ReadPosRankSum=-1.386;VQSLOD=4.9725;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,40:75:99:1106,0,939 19 50385373 50385373 G A exonic TBC1D17 synonymous SNV TBC1D17:NM_001168222:exon5:c.G504A:p.L168L,TBC1D17:NM_024682:exon6:c.G603A:p.L201L 0.0026 . 0.0072 . 0.008 . 0.0070 0.0015 0.0023 0 0.0125 0.0108 0.0055 0.0002 0.006 0.0016 0.0083 . 0.016 rs35008717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0065 0.0014 0.0038 0.0001 0 0.0095 0.0108 0.0067 0.0001 0.0068 0.0018 0.0072 0 0 0.0092 0.0099 0.0071 het 3080.43 249 19 50385373 . G A 3080.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.447;DP=249;DS;Dels=0.00;FS=6.160;HRun=0;HaplotypeScore=10.5382;MQ=59.20;MQ0=0;MQRankSum=-0.347;QD=12.37;ReadPosRankSum=-0.356;VQSLOD=3.1160;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,120:249:99:3110,0,3986 19 50411742 50411742 A G exonic NUP62 synonymous SNV NUP62:NM_001193357:exon2:c.T1323C:p.D441D,NUP62:NM_012346:exon2:c.T1323C:p.D441D,NUP62:NM_153718:exon2:c.T1323C:p.D441D,NUP62:NM_016553:exon3:c.T1323C:p.D441D,NUP62:NM_153719:exon3:c.T1323C:p.D441D 0.97 1. 0.97 1. 0.94 0.95 0.9444 0.9886 0.9722 0.9995 0.9484 0.9251 0.9260 0.9459 0.95 0.98 0.93 0.96 0.89 rs892028 . . Likely benign not_specified RCV000117863.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9442 0.9903 0.9671 0.8993 0.9996 0.9412 0.9269 0.9343 0.9462 0.9563 0.9876 0.9713 0.8841 1 0.9424 0.9375 0.9519 hom 6380.18 189 19 50411742 . A G 6380.18 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.39;MQ0=0;QD=33.76;VQSLOD=9.5752;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:6379,535,0 19 50412309 50412309 C G exonic NUP62 synonymous SNV NUP62:NM_001193357:exon2:c.G756C:p.G252G,NUP62:NM_012346:exon2:c.G756C:p.G252G,NUP62:NM_153718:exon2:c.G756C:p.G252G,NUP62:NM_016553:exon3:c.G756C:p.G252G,NUP62:NM_153719:exon3:c.G756C:p.G252G 0.052 0.072 0.023 0.12 0.0089 0.024 0.0195 0.0616 0.0113 0.1134 0.0020 0.0053 0.0111 0.0145 0.021 0.054 0.0038 0.033 0.0082 rs1290749 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0189 0.0621 0.0107 0.0092 0.1190 0.0019 0.0052 0.0126 0.0153 0.0258 0.0585 0.0107 0.0099 0.1131 0.0020 0.0051 0.0092 het 1630.96 101 19 50412309 . C G 1630.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.453;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2449;MQ=59.54;MQ0=0;MQRankSum=0.168;QD=16.15;ReadPosRankSum=-0.631;VQSLOD=4.9390;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,59:101:99:1661,0,1109 19 50412417 50412417 G A exonic NUP62 synonymous SNV NUP62:NM_001193357:exon2:c.C648T:p.S216S,NUP62:NM_012346:exon2:c.C648T:p.S216S,NUP62:NM_153718:exon2:c.C648T:p.S216S,NUP62:NM_016553:exon3:c.C648T:p.S216S,NUP62:NM_153719:exon3:c.C648T:p.S216S 0.86 0.92 0.85 0.95 0.78 0.77 0.7919 0.9110 0.8210 0.9643 0.7849 0.7531 0.7687 0.7665 0.81 0.9 0.76 0.78 0.66 rs999583 COSM3757052 1(urinary_tract);1(large_intestine) Likely benign not_specified RCV000117865.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7915 0.9151 0.8215 0.7191 0.9638 0.7753 0.7558 0.7742 0.7680 0.8265 0.9125 0.8397 0.7119 0.9653 0.7817 0.7751 0.7994 hom 4007.08 132 19 50412417 . G A 4007.08 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.9822;MQ=59.12;MQ0=0;MQRankSum=1.652;QD=30.36;ReadPosRankSum=1.332;VQSLOD=7.2765;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,129:132:99:3973,307,0 19 50412650 50412650 C T exonic NUP62 nonsynonymous SNV NUP62:NM_001193357:exon2:c.G415A:p.G139S,NUP62:NM_012346:exon2:c.G415A:p.G139S,NUP62:NM_153718:exon2:c.G415A:p.G139S,NUP62:NM_016553:exon3:c.G415A:p.G139S,NUP62:NM_153719:exon3:c.G415A:p.G139S 0.047 0.054 0.023 0.12 0.008 0.021 0.0187 0.0483 0.0109 0.1133 0.0021 0.0060 0.0100 0.0144 0.018 0.044 0.0045 0.043 0.016 rs3745489 COSM148689 1(stomach);1(large_intestine) . . . . . . . . . . . 0.038 0.427 D 0.855 0.451 P 0.155 0.328 B 0.019 0.273 U 0.000 0.588 P 2.435 0.708 M 0.97 0.615 T -2.89 0.606 D 0.083 0.104 -1.064 0.108 T 0.002 0.005 T . . . 4.972 0.669 25.1 0.998 0.894 0.784 0.384 D c 0.000 0.057 0.991 0.321 0.722 0.854 0 4.04 0.461 3.921 0.559 0.925 0.434 0.997 0.399 0.880 0.369 9.470 0.378 . . . 0.0182 0.0491 0.0100 0.0092 0.1190 0.0022 0.0060 0.0124 0.0151 0.0223 0.0457 0.0095 0.0099 0.1125 0.0023 0.0055 0.0092 het 1238.91 84 19 50412650 . C T 1238.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.231;DP=84;Dels=0.00;FS=1.813;HRun=0;HaplotypeScore=1.8401;MQ=58.61;MQ0=0;MQRankSum=-0.506;QD=14.75;ReadPosRankSum=0.443;VQSLOD=6.0003;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,44:84:99:1269,0,1060 19 50435747 50435747 T C exonic ATF5 synonymous SNV ATF5:NM_001193646:exon3:c.T247C:p.L83L,ATF5:NM_001290746:exon3:c.T247C:p.L83L,ATF5:NM_012068:exon4:c.T247C:p.L83L 0.67 0.73 0.63 0.71 0.62 0.62 0.6242 0.7205 0.6750 0.7189 0.6804 0.5886 0.6105 0.6009 0.61 0.7 0.57 0.63 0.52 rs283525 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6212 0.7265 0.6500 0.5335 0.7062 0.6667 0.5887 0.6124 0.6033 0.6453 0.7093 0.6501 0.5245 0.6507 0.6899 0.6009 0.6486 hom 1853.76 62 19 50435747 . T C 1853.76 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.02;FS=0.000;HRun=3;HaplotypeScore=5.6594;MQ=57.53;MQ0=0;QD=29.42;VQSLOD=5.8510;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1887,162,0 19 50435862 50435862 C T exonic ATF5 nonsynonymous SNV ATF5:NM_001193646:exon3:c.C362T:p.P121L,ATF5:NM_001290746:exon3:c.C362T:p.P121L,ATF5:NM_012068:exon4:c.C362T:p.P121L 0.67 0.93 0.64 0.65 0.52 0.51 0.6388 0.9138 0.7343 0.7552 0.6651 0.5745 0.5780 0.5723 0.64 0.87 0.53 0.011 0.057 rs283526 COSM440013 4(thyroid);1(large_intestine) . . . . . . . . . . . 0.42 0.098 T 0.0 0.026 B 0.0 0.013 B 0.598 0.110 N 0.982 0.250 P -1.955 0.002 N 1.04 0.402 T 0.85 0.017 N 0.079 0.071 -1.004 0.287 T 0.000 0.000 T . . . 0.121 0.105 3.828 0.794 0.123 0.060 0.118 N c -1.144 -0.967 1.000 0.747 0.646 0.442 0 2.87 0.324 1.454 0.346 0.081 0.190 0.929 0.320 0.087 0.184 6.571 0.216 . ENSG00000104951.11 Testis 0.5845 0.8963 0.6457 0.4717 0.6875 0.5824 0.5253 0.5638 0.5425 0.6287 0.8686 0.6786 0.4718 0.6823 0.5983 0.5051 0.5756 hom 292.38 11 19 50435862 . C T 292.38 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=56.52;MQ0=0;QD=26.58;VQSLOD=6.5344;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:325,27,0 19 50484234 50484234 G A exonic VRK3 synonymous SNV VRK3:NM_001025778:exon12:c.C1104T:p.C368C,VRK3:NM_016440:exon13:c.C1254T:p.C418C 0.17 0.13 0.24 0.29 0.065 0.16 0.1482 0.1394 0.3203 0.3036 0.0895 0.0866 0.1189 0.1993 0.089 0.13 0.07 0.17 0.066 rs16981617 COSM148690 1(stomach);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1302 0.1197 0.2670 0.1228 0.2784 0.0650 0.0683 0.1178 0.1776 0.0971 0.1211 0.2470 0.1424 0.2833 0.0653 0.0620 0.0835 het 295.94 21 19 50484234 . G A 295.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.036;DP=21;Dels=0.00;FS=1.899;HRun=0;HaplotypeScore=0.8667;MQ=57.77;MQ0=0;MQRankSum=-0.253;QD=14.09;ReadPosRankSum=-1.195;VQSLOD=4.4366;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,13:21:99:326,0,223 19 50720940 50720940 T C exonic MYH14 synonymous SNV MYH14:NM_001077186:exon3:c.T474C:p.I158I,MYH14:NM_001145809:exon3:c.T474C:p.I158I,MYH14:NM_024729:exon3:c.T474C:p.I158I 0.014 0.0023 0.03 . 0.036 0.0092 0.0290 0.0083 0.0165 0 0.0183 0.0412 0.0346 0.0203 0.03 0.008 0.041 0.022 . rs34796700 . . Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037047.3|RCV000288469.1 MedGen|MedGen CN169374|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0285 0.0075 0.0200 0.0225 5.798e-05 0.0174 0.0430 0.0307 0.0210 0.0230 0.0078 0.0155 0.0265 0.0019 0.0112 0.0372 0.0235 het 2148.37 165 19 50720940 . T C 2148.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.471;DP=165;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.69;MQ0=0;MQRankSum=0.041;QD=13.02;ReadPosRankSum=1.065;VQSLOD=6.4250;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,86:165:99:2178,0,2110 19 50726570 50726570 G A exonic MYH14 synonymous SNV MYH14:NM_001077186:exon5:c.G657A:p.A219A,MYH14:NM_001145809:exon5:c.G657A:p.A219A,MYH14:NM_024729:exon5:c.G657A:p.A219A 0.47 0.16 0.49 0.58 0.61 0.63 0.6057 0.2484 0.4973 0.6230 0.6569 0.6465 0.5870 0.6368 0.49 0.23 0.63 0.41 . rs4801822 COSM1129752;COSM1129753;COSM3757053 2(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037055.3|RCV000304632.1 MedGen|MedGen CN169374|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5697 0.1947 0.4451 0.5266 0.5715 0.6521 0.6295 0.5680 0.6176 0.4990 0.2085 0.4233 0.5099 0.5513 0.6498 0.6247 0.6 het 273.24 30 19 50726570 . G A 273.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.293;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-1.088;QD=9.11;ReadPosRankSum=-0.167;VQSLOD=6.2963;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,13:30:99:303,0,441 19 50760716 50760716 C G exonic MYH14 synonymous SNV MYH14:NM_024729:exon16:c.C2082G:p.R694R,MYH14:NM_001077186:exon17:c.C2106G:p.R702R,MYH14:NM_001145809:exon18:c.C2205G:p.R735R 0.36 0.34 0.3 0.37 0.4 0.36 0.4141 0.3369 0.2808 0.3990 0.3937 0.4503 0.4329 0.4028 0.39 0.31 0.42 0.4 . rs378811 COSM440034;COSM440033;COSM3757057 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037031.3|RCV000404966.1 MedGen|MedGen CN169374|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3816 0.3002 0.2466 0.4839 0.3866 0.3602 0.4291 0.4032 0.3767 0.3751 0.3040 0.2601 0.5298 0.3846 0.3720 0.4192 0.3796 het 346.69 17 19 50760716 . C G 346.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DP=17;Dels=0.00;FS=2.218;HRun=1;HaplotypeScore=0.0000;MQ=57.50;MQ0=0;MQRankSum=1.845;QD=20.39;ReadPosRankSum=0.158;VQSLOD=2.9626;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,12:17:99:377,0,112 19 50771609 50771609 G A exonic MYH14 synonymous SNV MYH14:NM_024729:exon22:c.G2895A:p.L965L,MYH14:NM_001077186:exon23:c.G2919A:p.L973L,MYH14:NM_001145809:exon24:c.G3018A:p.L1006L 0.48 0.42 0.69 0.38 0.59 0.42 0.5980 0.5117 0.8089 0.5130 0.6979 0.6242 0.5810 0.4714 0.53 0.46 0.57 0.49 . rs3745504 COSM3757058;COSM3757060;COSM3757059 2(large_intestine) Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037038.3|RCV000387439.1 MedGen|MedGen CN169374|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5598 0.4557 0.7423 0.4572 0.4034 0.5993 0.5708 0.5889 0.4470 0.5229 0.4426 0.7172 0.4636 0.3970 0.5859 0.5567 0.5564 hom 304.12 12 19 50771609 . G A 304.12 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;QD=25.34;VQSLOD=7.9291;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:27.08:337,27,0 19 50796905 50796905 G A exonic MYH14 synonymous SNV MYH14:NM_024729:exon37:c.G5307A:p.S1769S,MYH14:NM_001077186:exon38:c.G5331A:p.S1777S,MYH14:NM_001145809:exon39:c.G5430A:p.S1810S 0.68 0.33 0.77 0.93 0.75 0.77 0.7480 0.3613 0.8775 0.9329 0.7713 0.7482 0.7742 0.7878 0.61 0.36 0.74 0.61 . rs3745509 . . Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037051.3|RCV000379148.1 MedGen|MedGen CN169374|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7568 0.3540 0.8634 0.7148 0.9321 0.7676 0.7474 0.7501 0.7839 0.6579 0.3589 0.8313 0.6921 0.9247 0.7665 0.7606 0.7546 hom 2851.76 86 19 50796905 . G A 2851.76 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.74;MQ0=0;QD=32.78;VQSLOD=9.6267;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2885,226,0 19 50881820 50881820 - AAC exonic NR1H2 nonframeshift insertion NR1H2:NM_001256647:exon5:c.223_224insAAC:p.Q78_E79insQ,NR1H2:NM_007121:exon6:c.514_515insAAC:p.Q175_E176insQ 0.55 0.34 0.53 0.79 0.6 0.54 0.6187 0.4579 0.5289 0.8273 0.6664 0.6247 0.6283 0.6001 0.79 0.75 0.81 . . rs57917904 COSM1481363 21(upper_aerodigestive_tract);1(large_intestine);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6397 0.4823 0.5883 0.6346 0.8302 0.6802 0.6399 0.6613 0.6048 0.6657 0.5960 0.6497 0.6107 0.8234 0.7026 0.6676 0.6739 hom 5345.07 92 19 50881820 . A AAAC 5345.07 Mask AC=2;AF=1.00;AN=2;DP=92;FS=0.000;HRun=0;HaplotypeScore=242.2623;MQ=58.41;MQ0=0;QD=58.10;set=variant2 GT:AD:DP:GQ:PL 1/1:3,87:92:99:5345,268,0 19 50926264 50926264 T C exonic SPIB nonsynonymous SNV SPIB:NM_001244000:exon4:c.T251C:p.L84P 0.78 0.9 0.85 0.42 0.89 0.84 0.8510 0.8938 0.8762 0.3924 0.9013 0.8943 0.8639 0.8658 0.89 0.89 0.89 0.45 0.89 rs1673030 COSM3933134 2(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . -1.851 0.010 0.002 0.230 0.010 0.003 0.016 N n -0.936 0.300 1.0 0.983 0.628 0.401 0 -9.42 0.005 -3.356 0.006 -3.275 0.001 0.000 0.063 0.007 0.100 6.609 0.218 . . . 0.8511 0.8932 0.8780 0.8773 0.3872 0.9018 0.8982 0.8677 0.8636 0.8678 0.8909 0.8846 0.8926 0.4049 0.9011 0.8949 0.8874 hom 1994.95 69 19 50926264 . T C 1994.95 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.8237;MQ=57.73;MQ0=0;QD=28.91;VQSLOD=6.5563;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2028,153,0 19 50926265 50926265 G C exonic SPIB nonsynonymous SNV SPIB:NM_001243999:exon4:c.G310C:p.A104P,SPIB:NM_003121:exon4:c.G310C:p.A104P 0.47 0.25 0.63 0.21 0.77 0.6 0.6611 0.3366 0.6378 0.2012 0.8204 0.7597 0.6968 0.6521 0.56 0.3 0.7 . 0.7 rs11546996 COSM5426589 2(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.32 0.135 T 0.026 0.181 B 0.015 0.162 B 0.358 0.137 N 1 0.090 P . . . 2.22 0.517 T 0.46 0.031 N 0.061 0.045 -0.984 0.340 T 0.000 0.000 T . . . 1.047 0.194 10.92 0.403 0.028 0.025 0.068 N c -1.099 -1.136 1.000 0.489 0.628 0.401 0 -2.12 0.067 0.797 0.265 1.032 0.654 0.001 0.137 0.017 0.128 4.825 0.127 . . . 0.6624 0.3233 0.6490 0.6713 0.1992 0.8194 0.7641 0.6958 0.6454 0.6100 0.3374 0.6812 0.6376 0.2067 0.8210 0.7571 0.7169 hom 1884.42 69 19 50926265 . G C 1884.42 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=58.10;MQ0=0;QD=27.31;VQSLOD=6.9797;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:1917,144,0 19 50965272 50965272 T C exonic MYBPC2 synonymous SNV MYBPC2:NM_004533:exon26:c.T3207C:p.C1069C 0.79 0.97 0.78 0.71 0.68 0.78 0.7453 0.9202 0.8589 0.7236 0.6826 0.7022 0.7288 0.7732 0.75 0.91 0.67 0.84 . rs25668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7178 0.9244 0.8267 0.6565 0.6928 0.6547 0.6657 0.7145 0.7599 0.7429 0.9172 0.8254 0.6733 0.7108 0.6572 0.6652 0.6828 het 172.77 12 19 50965272 . T C 172.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.289;QD=14.40;ReadPosRankSum=0.289;VQSLOD=12.5312;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,8:12:99:203,0,118 19 50983930 50983930 C T exonic EMC10 synonymous SNV EMC10:NM_175063:exon5:c.C495T:p.P165P,EMC10:NM_206538:exon5:c.C495T:p.P165P 0.54 0.34 0.63 0.56 0.59 0.69 0.6475 0.4494 0.7827 0.6088 0.6474 0.6395 0.6558 0.7025 0.52 0.38 0.59 0.52 0.44 rs10409679 COSM1564294;COSM1564295 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6047 0.3726 0.7344 0.5478 0.5605 0.5717 0.5899 0.6059 0.6782 0.5248 0.3748 0.7170 0.5767 0.5745 0.5599 0.5829 0.5818 het 263.77 16 19 50983930 . C T 263.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.163;DP=16;Dels=0.00;FS=2.808;HRun=0;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;MQRankSum=-0.488;QD=16.49;ReadPosRankSum=-0.163;VQSLOD=6.0134;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,10:16:99:294,0,157 19 51133356 51133356 C G exonic SYT3 synonymous SNV SYT3:NM_032298:exon3:c.G747C:p.R249R,SYT3:NM_001160328:exon5:c.G747C:p.R249R,SYT3:NM_001160329:exon5:c.G747C:p.R249R 0.59 0.86 0.72 0.17 0.69 0.49 0.6203 0.8163 0.6535 0.1418 0.6485 0.6657 0.6663 0.5198 0.71 0.81 0.67 0.47 0.51 rs10407511 COSM4132319 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6134 0.8180 0.6588 0.7023 0.1362 0.6377 0.6621 0.6655 0.4989 0.6619 0.8099 0.6695 0.6921 0.1347 0.6427 0.6375 0.6452 hom 2095.32 65 19 51133356 . C G 2095.32 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6332;MQ=59.65;MQ0=0;QD=32.24;VQSLOD=8.4721;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2128,169,0 19 51228634 51228634 G A exonic CLEC11A synonymous SNV CLEC11A:NM_002975:exon4:c.G882A:p.E294E 0.15 0.19 0.12 0.051 0.25 0.13 0.2029 0.2067 0.1006 0.0499 0.2851 0.2516 0.2172 0.1374 0.21 0.18 0.22 0.11 0.13 rs11084024 . . . . . . . . . . . . . . . . . . . . . . . . . 1e-37 0.810 P . . . 0.63 0.531 T . . . . . . . . . . . . . . 0.690 0.160 8.763 0.916 0.203 0.843 0.431 D n 2.786 7.143 1.0 0.983 0.455 0.088 0 3.54 0.395 4.468 0.597 0.953 0.551 1.000 0.715 0.994 0.587 12.182 0.533 . . . 0.1852 0.1888 0.1029 0.2158 0.0452 0.2550 0.2325 0.1973 0.1278 0.2022 0.1932 0.1223 0.2351 0.0463 0.2510 0.2176 0.1878 het 533.20 30 19 51228634 . G A 533.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.473;DP=30;Dels=0.00;FS=5.859;HRun=2;HaplotypeScore=1.9819;MQ=60.00;MQ0=0;MQRankSum=0.818;QD=17.77;ReadPosRankSum=-1.420;VQSLOD=4.3694;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,19:30:99:563,0,279 19 51323473 51323473 C G exonic KLK1 nonsynonymous SNV KLK1:NM_002257:exon3:c.G433C:p.E145Q 0.69 0.62 0.75 0.8 0.67 0.66 0.6857 0.6400 0.8199 0.7974 0.6733 0.6704 0.6527 0.6301 0.66 0.63 0.67 0.7 0.65 rs5516 COSM4132329 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.005 0.104 B . . . 1 0.090 P 0.37 0.121 N -2.42 0.886 D 0.89 0.016 N 0.068 0.081 -0.987 0.334 T 0.000 0.000 T . . . -1.733 0.012 0.002 0.615 0.066 0.027 0.072 N c -1.857 -1.919 1.000 0.747 0.652 0.477 0 -3.94 0.038 -3.071 0.007 -1.260 0.014 0.000 0.063 0.000 0.016 9.555 0.383 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000180279.5 Testis 0.6888 0.6365 0.8020 0.6183 0.7912 0.6710 0.6730 0.6788 0.6279 0.6672 0.6318 0.7852 0.6093 0.7975 0.6751 0.6645 0.6965 hom 5208.56 155 19 51323473 . C G 5208.56 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.4725;MQ=60.00;MQ0=0;QD=33.60;VQSLOD=8.8559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:5208,400,0 19 51323501 51323501 A G exonic KLK1 synonymous SNV KLK1:NM_002257:exon3:c.T405C:p.D135D 0.73 0.75 0.77 0.8 0.67 0.65 0.6940 0.7495 0.8240 0.7970 0.6711 0.6690 0.6553 0.6258 0.69 0.74 0.67 0.75 0.63 rs1054713 COSM4132330 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6953 0.7492 0.8070 0.6184 0.7913 0.6690 0.6715 0.6819 0.6255 0.6968 0.7386 0.7995 0.61 0.7960 0.6739 0.6629 0.7006 hom 5454.78 173 19 51323501 . A G 5454.78 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7848;MQ=59.87;MQ0=0;QD=31.53;VQSLOD=9.3140;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5453,475,0 19 51411636 51411636 G T exonic KLK4 nonsynonymous SNV KLK4:NM_001302961:exon4:c.C306A:p.H102Q,KLK4:NM_004917:exon4:c.C591A:p.H197Q 1. 1. 1. 1. 1. 1. 0.9962 0.9993 0.9993 0.9999 0.9958 0.9947 0.9989 0.9958 1. 1. 1. 0.98 1. rs2569527 . . Benign not_specified RCV000245001.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9992 0.9993 0.9995 0.9998 0.9956 0.9949 0.9969 0.9960 0.9962 0.9995 1 1 1 0.9943 0.9943 0.9929 hom 7989.94 248 19 51411636 . G T 7989.94 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1210;MQ=59.11;MQ0=0;QD=32.22;VQSLOD=5.6357;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7989,629,0 19 51452250 51452250 T C exonic KLK5 nonsynonymous SNV KLK5:NM_001077492:exon4:c.A457G:p.N153D,KLK5:NM_012427:exon4:c.A457G:p.N153D,KLK5:NM_001077491:exon5:c.A457G:p.N153D 1. 1. 1. 1. 1. 1. 0.9994 0.9998 0.9999 1 0.9991 0.9993 0.9967 0.9990 1. 1. 1. 0.9 0.98 rs183854 COSM4132335 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9999 0.9995 0.9996 1 0.9992 0.9995 0.9993 0.9990 0.9995 0.9999 1 1 0.9994 0.9997 0.9994 0.9980 hom 3346.01 108 19 51452250 . T C 3346.01 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=30.98;VQSLOD=8.7529;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3345,271,0 19 51485622 51485622 A G exonic KLK7 nonsynonymous SNV KLK7:NM_001243126:exon2:c.T161C:p.L54P 0.96 0.96 0.97 1. 0.9 0.97 0.9315 0.9679 0.9629 0.9994 0.8844 0.9122 0.8958 0.9503 0.93 0.97 0.91 0.85 0.8 rs2659067 COSM4132336 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9285 0.9691 0.9579 0.8934 0.9994 0.8795 0.9115 0.9101 0.9484 0.9250 0.9672 0.9474 0.8874 0.9994 0.8840 0.9021 0.9180 hom 1126.94 35 19 51485622 . A G 1126.94 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=32.20;VQSLOD=9.4798;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1160,90,0 19 51507020 51507020 T G exonic KLK9 synonymous SNV KLK9:NM_012315:exon4:c.A543C:p.G181G 0.48 0.8 0.51 0.26 0.44 0.32 0.4535 0.7536 0.5478 0.2790 0.3869 0.4486 0.4558 0.3353 0.55 0.75 0.44 0.59 0.47 rs2075802 COSM4000838 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4529 0.7611 0.5571 0.4381 0.2848 0.3882 0.4523 0.4496 0.3343 0.5230 0.7612 0.5431 0.4106 0.2772 0.3909 0.4492 0.4255 het 1105.62 103 19 51507020 . T G 1105.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.580;DP=103;Dels=0.00;FS=2.690;HRun=1;HaplotypeScore=4.3707;MQ=59.55;MQ0=0;MQRankSum=0.413;QD=10.73;ReadPosRankSum=-0.534;VQSLOD=5.6830;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,42:103:99:1136,0,1583 19 51520487 51520487 A C exonic KLK10 nonsynonymous SNV KLK10:NM_001077500:exon3:c.T148G:p.S50A,KLK10:NM_002776:exon3:c.T148G:p.S50A,KLK10:NM_145888:exon3:c.T148G:p.S50A 0.69 0.98 0.68 0.65 0.62 0.43 0.6449 0.9265 0.6614 0.6516 0.6329 0.6415 0.6411 0.4872 0.74 0.92 0.64 0.74 0.45 rs3745535 COSM3757087 1(pancreas);1(thyroid);4(large_intestine) . . . . . . . . . . . 0.933 0.022 T 0.0 0.026 B 0.003 0.080 B . . . 1 0.090 P 0.7 0.186 N -2.42 0.886 D 0.37 0.036 N 0.048 0.040 -0.984 0.340 T 0.000 0.000 T . . . -1.645 0.014 0.002 0.560 0.053 0.008 0.032 N c -1.570 -1.626 1.000 0.517 0.652 0.477 0 -2.83 0.054 -2.148 0.014 -0.510 0.051 0.000 0.063 0.083 0.182 4.883 0.130 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain ENSG00000268739.1|ENSG00000129451.7|ENSG00000268739.1|ENSG00000129451.7 Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.6363 0.9310 0.6667 0.6115 0.6500 0.6216 0.6365 0.6263 0.4768 0.7130 0.9292 0.6687 0.5772 0.6468 0.6025 0.6305 0.6342 het 104.54 15 19 51520487 . A C 104.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.061;DP=15;Dels=0.00;FS=4.832;HRun=0;HaplotypeScore=0.6651;MQ=58.75;MQ0=0;MQRankSum=-0.551;QD=6.97;ReadPosRankSum=1.286;VQSLOD=3.9718;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:15:99:135,0,286 19 51656454 51656454 A T exonic SIGLEC7 synonymous SNV SIGLEC7:NM_016543:exon6:c.A1077T:p.G359G,SIGLEC7:NM_014385:exon7:c.A1356T:p.G452G 0.72 0.55 0.75 0.57 0.94 0.83 0.8559 0.5886 0.7155 0.6030 0.9657 0.9438 0.8910 0.8540 0.82 0.6 0.94 0.8 0.91 rs273662 COSM148693 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8579 0.5829 0.7264 0.8950 0.6098 0.9686 0.9446 0.8861 0.8543 0.8236 0.5895 0.7669 0.8907 0.6179 0.9679 0.9449 0.8990 hom 4510.98 150 19 51656454 . A T 4510.98 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.7353;MQ=59.29;MQ0=0;QD=30.07;VQSLOD=4.4257;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,150:150:99:4510,367,0 19 51728477 51728477 C T exonic CD33 nonsynonymous SNV CD33:NM_001177608:exon2:c.C41T:p.A14V,CD33:NM_001772:exon2:c.C41T:p.A14V 0.21 0.051 0.48 0.19 0.31 0.16 0.2939 0.0852 0.5788 0.1792 0.3730 0.3170 0.2810 0.1589 0.23 0.093 0.3 0.15 0.23 rs12459419 COSM5828919;COSM3757092 1(haematopoietic_and_lymphoid_tissue);1(pancreas);2(large_intestine) . . . . . . . . . . . 0.029 0.457 D 0.766 0.418 P 0.283 0.387 B . . . 1 0.182 P 2.045 0.562 M 2.32 0.166 T -2.13 0.483 N 0.031 0.012 -0.889 0.491 T 0.000 0.000 T . . . 2.009 0.302 16.27 0.987 0.446 0.185 0.201 N c -0.750 -0.886 1.000 0.747 0.487 0.133 0 0.919 0.184 -0.191 0.095 -2.085 0.004 0.000 0.063 0.000 0.016 9.354 0.371 . ENSG00000268849.1|ENSG00000179213.9 Lung|Testis 0.3081 0.0776 0.5631 0.2212 0.1844 0.3676 0.3200 0.3027 0.1565 0.2538 0.0860 0.4928 0.1821 0.1805 0.3603 0.3205 0.2883 het 1010.06 92 19 51728477 . C T 1010.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.529;DP=92;Dels=0.00;FS=5.918;HRun=0;HaplotypeScore=3.1610;MQ=58.82;MQ0=1;MQRankSum=-0.203;QD=10.98;ReadPosRankSum=-2.079;VQSLOD=3.7168;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,43:92:99:1040,0,1380 19 51728641 51728641 A G exonic CD33 nonsynonymous SNV CD33:NM_001177608:exon2:c.A205G:p.R69G,CD33:NM_001772:exon2:c.A205G:p.R69G 0.34 0.53 0.3 0.1 0.45 0.22 0.3577 0.5064 0.2107 0.0797 0.3774 0.4189 0.3557 0.2577 0.45 0.5 0.43 0.42 0.44 rs2455069 COSM5905090;COSM148694 1(stomach);1(skin);5(prostate);1(large_intestine) . . . . . . . . . . . 0.334 0.129 T 0.0 0.067 B 0.003 0.133 B 0.001 0.007 N 1 0.182 P 1.355 0.339 L 0.9 0.453 T -2.36 0.521 N 0.026 0.015 -0.976 0.359 T 0.000 0.000 T . . . -2.023 0.008 0.001 0.274 0.014 0.014 0.046 N c -2.357 -2.449 1.000 0.747 0.583 0.331 0 -6.98 0.014 -5.048 0.002 -2.994 0.001 0.000 0.063 0.000 0.016 1.204 0.018 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.3489 0.5093 0.2167 0.3947 0.0804 0.3809 0.4220 0.3857 0.2540 0.4176 0.5043 0.2804 0.4205 0.0741 0.3804 0.4243 0.3633 het 1988.55 166 19 51728641 . A G 1988.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.768;DP=166;Dels=0.00;FS=2.756;HRun=3;HaplotypeScore=3.1392;MQ=58.96;MQ0=0;MQRankSum=2.778;QD=11.98;ReadPosRankSum=0.785;VQSLOD=5.1631;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,78:166:99:2019,0,2419 19 51738917 51738917 G A exonic CD33 nonsynonymous SNV CD33:NM_001082618:exon5:c.G529A:p.G177R,CD33:NM_001177608:exon6:c.G910A:p.G304R,CD33:NM_001772:exon6:c.G910A:p.G304R 0.071 0.025 0.11 . 0.21 0.036 0.1603 0.0486 0.0805 0 0.3091 0.2236 0.1638 0.0512 0.15 0.054 0.2 0.054 0.15 rs35112940 . . . . . . . . . . . . . 0.145 0.419 T 0.015 0.260 B 0.009 0.233 B . . . 1 0.090 P 1.54 0.390 L 1.02 0.407 T -1.64 0.532 N 0.089 0.175 -1.022 0.231 T 0.000 0.000 T . . . 0.427 0.135 6.842 0.791 0.122 0.009 0.036 N c -1.031 -1.120 0.346 0.196 0.624 0.395 0 0.282 0.149 -0.577 0.059 0.109 0.204 0.000 0.063 0.000 0.016 3.458 0.070 Immunoglobulin|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000268595.1|ENSG00000268849.1|ENSG00000179213.9|ENSG00000268652.1 Brain_Cerebellar_Hemisphere|Lung|Testis|Testis 0.1481 0.0420 0.0772 0.1347 0.0002 0.2678 0.2123 0.1587 0.0463 0.1521 0.0452 0.0835 0.0894 0 0.2569 0.2107 0.1670 het 607.50 37 19 51738917 . G A 607.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.143;DP=37;Dels=0.00;FS=3.069;HRun=1;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=0.893;QD=16.42;ReadPosRankSum=0.673;VQSLOD=5.4511;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,23:37:99:637,0,322 19 51850290 51850290 G A exonic ETFB nonsynonymous SNV ETFB:NM_001014763:exon4:c.C734T:p.T245M,ETFB:NM_001985:exon5:c.C461T:p.T154M 0.42 0.47 0.45 0.29 0.57 0.31 0.4980 0.5115 0.3201 0.2971 0.6386 0.5721 0.4872 0.3623 0.54 0.51 0.56 0.45 0.43 rs1130426 COSM3721676;COSM3721677 2(breast);1(kidney);1(upper_aerodigestive_tract);1(large_intestine) Benign not_specified RCV000079961.4 MedGen CN169374 . . . . . . 0.034 0.461 D 0.98 0.764 D 0.696 0.580 P 0.003 0.356 N 0.023 0.393 P 2.63 0.772 M -1.68 0.829 D -1.44 0.362 N 0.199 0.244 -0.891 0.489 T 0.000 0.000 T . . . 6.646 0.912 32 0.999 0.973 0.936 0.585 D c 0.566 0.568 1.000 0.747 0.707 0.730 0 5.2 0.716 3.133 0.500 0.953 0.551 0.989 0.365 0.848 0.354 11.654 0.504 Electron transfer flavoprotein\x2c alpha/beta-subunit\x2c N-terminal|Rossmann-like alpha/beta/alpha sandwich fold;Rossmann-like alpha/beta/alpha sandwich fold ENSG00000186806.5|ENSG00000186806.5|ENSG00000142549.9|ENSG00000105379.5 Liver|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.4852 0.5050 0.3193 0.4190 0.3005 0.6182 0.5758 0.5035 0.3557 0.5333 0.4955 0.3592 0.4272 0.3205 0.6203 0.5701 0.5287 hom 1456.61 49 19 51850290 . G A 1456.61 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.53;MQ0=0;QD=29.73;VQSLOD=9.0916;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1490,117,0 19 51871195 51871195 G A exonic CLDND2 synonymous SNV CLDND2:NM_152353:exon2:c.C255T:p.C85C 0.19 0.037 0.28 0.16 0.39 0.18 0.3296 0.1012 0.2238 0.1713 0.4285 0.4179 0.3392 0.2295 0.3 0.099 0.4 0.25 0.17 rs3745403 COSM3757097 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3150 0.0859 0.2147 0.3378 0.1687 0.3924 0.4103 0.3486 0.2206 0.2963 0.0873 0.25 0.3709 0.1566 0.3828 0.4118 0.3330 hom 1382.22 46 19 51871195 . G A 1382.22 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.84;MQ0=0;QD=30.05;VQSLOD=7.7727;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1415,120,0 19 51919949 51919949 G A exonic LOC100129083;SIGLEC10 nonsynonymous SNV LOC100129083:NM_001256795:exon2:c.G281A:p.C94Y,SIGLEC10:NM_001171156:exon3:c.C503T:p.A168V,SIGLEC10:NM_001171157:exon3:c.C677T:p.A226V,SIGLEC10:NM_001171158:exon3:c.C533T:p.A178V,SIGLEC10:NM_001171159:exon3:c.C503T:p.A168V,SIGLEC10:NM_001171161:exon3:c.C503T:p.A168V,SIGLEC10:NM_001322105:exon3:c.C677T:p.A226V,SIGLEC10:NM_033130:exon3:c.C677T:p.A226V 0.27 0.48 0.22 0.006 0.3 0.26 0.2664 0.4468 0.1455 0.0017 0.2899 0.2949 0.3281 0.2489 0.34 0.44 0.29 0.26 0.35 rs9304711 . . . . . . . . . . . . . 0.166 0.312 T 0.087 0.318 B 0.097 0.332 B 0.038 0.243 N 1 0.197 P 0.41 0.124 N -2.05 0.858 D -0.96 0.344 N 0.017 0.408 -0.952 0.406 T 0.000 0.000 T . . . 0.571 0.149 7.950 0.994 0.610 0.049 0.105 N c -0.860 -0.858 0.999 0.381 0.660 0.495 0 3.65 0.408 0.455 0.214 0.998 0.613 0.000 0.063 0.003 0.074 8.684 0.332 Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like fold . . 0.2584 0.4481 0.1513 0.3931 0.0020 0.2934 0.2865 0.2836 0.2504 0.3071 0.4419 0.1933 0.39 0.0037 0.2876 0.2744 0.2520 hom 2150.01 78 19 51919949 . G A 2150.01 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.76;MQ0=1;QD=27.56;VQSLOD=5.4642;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,77:78:99:2183,181,0 19 51920613 51920613 C T exonic SIGLEC10 synonymous SNV SIGLEC10:NM_001171156:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171157:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171158:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171159:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001171161:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_001322105:exon2:c.G144A:p.Q48Q,SIGLEC10:NM_033130:exon2:c.G144A:p.Q48Q 0.83 0.74 0.89 0.86 0.87 0.85 0.8702 0.7688 0.9369 0.8933 0.8604 0.8774 0.8899 0.8491 0.84 0.77 0.88 0.87 0.88 rs1010425 . . . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.090 P . . . . . . . . . . . . . . . . . . . . 0.463 0.138 7.143 0.722 0.096 0.021 0.061 N c -1.444 -1.747 1.0 0.983 0.487 0.133 0 -9.07 0.006 -5.659 0.001 -1.532 0.010 0.000 0.063 0.000 0.016 1.052 0.015 . . . 0.8710 0.7638 0.9301 0.8665 0.8917 0.8643 0.8731 0.8795 0.8456 0.8371 0.7561 0.9224 0.8510 0.8864 0.8558 0.8686 0.8520 hom 3207.60 99 19 51920613 . C T 3207.60 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2952;MQ=59.12;MQ0=0;QD=32.40;VQSLOD=7.8154;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3241,256,0 19 51984725 51984725 T A exonic CEACAM18 nonsynonymous SNV CEACAM18:NM_001278392:exon3:c.T479A:p.L160H 0.89 0.96 0.85 0.92 0.77 0.89 0.8253 0.9357 0.8593 0.9293 0.7796 0.7791 0.8330 0.8861 0.83 0.93 0.77 0.84 . rs8106673 COSM4132343;COSM4132344 1(thyroid) . . . . . . . . . . . 0.542 0.067 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P 0.165 0.090 N . . . 2.39 0.003 N 0.051 0.043 -1.032 0.199 T 0.000 0.000 T . . . -0.569 0.052 0.149 0.171 0.005 0.001 0.005 N c -1.226 -1.250 0.008 0.116 0.487 0.133 0 1.71 0.233 -0.102 0.108 0.083 0.191 0.000 0.063 0.021 0.135 5.394 0.154 Immunoglobulin subtype . . 0.8222 0.9427 0.8543 0.7912 0.9235 0.7764 0.7760 0.8073 0.8838 0.8231 0.9367 0.8397 0.7748 0.9320 0.7755 0.7583 0.7908 het 1612.06 127 19 51984725 . T A 1612.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.507;DP=127;Dels=0.00;FS=1.464;HRun=0;HaplotypeScore=9.3142;MQ=59.12;MQ0=0;MQRankSum=0.319;QD=12.69;ReadPosRankSum=2.077;VQSLOD=3.7821;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,61:127:99:1642,0,1626 19 52000624 52000624 T G exonic SIGLEC12 nonsynonymous SNV SIGLEC12:NM_033329:exon5:c.A1127C:p.Y376S,SIGLEC12:NM_053003:exon6:c.A1481C:p.Y494S 0.83 0.97 0.91 0.54 0.86 0.86 0.8466 0.9462 0.9177 0.5345 0.8212 0.8518 0.8414 0.8860 0.89 0.95 0.86 0.83 0.83 rs3752135 COSM4132345 1(thyroid) . . . . . . . . . . . 0.083 0.330 T 0.0 0.026 B 0.0 0.013 B 0.720 0.063 N 1 0.090 P -2.535 0.001 N 1.29 0.358 T 1.4 0.008 N 0.048 0.029 -0.953 0.405 T 0.000 0.000 T . . . -0.486 0.056 0.238 0.488 0.040 0.000 0.003 N c -1.866 -1.825 0.000 0.058 0.487 0.133 0 -1.13 0.092 -1.199 0.031 -1.045 0.020 0.000 0.063 0.000 0.016 0.635 0.007 Immunoglobulin-like domain ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Thyroid|Uterus|Vagina|Whole_Blood 0.8461 0.9473 0.9207 0.7974 0.5372 0.8232 0.8542 0.8527 0.8890 0.8562 0.9419 0.9165 0.7848 0.5359 0.8182 0.8481 0.85 hom 6222.81 212 19 52000624 . T G 6222.81 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9416;MQ=59.72;MQ0=0;QD=29.35;VQSLOD=8.5611;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6222,472,0 19 52000672 52000672 G A exonic SIGLEC12 nonsynonymous SNV SIGLEC12:NM_033329:exon5:c.C1079T:p.T360M,SIGLEC12:NM_053003:exon6:c.C1433T:p.T478M 0.63 0.58 0.77 0.47 0.65 0.75 0.6578 0.5842 0.8170 0.4434 0.6287 0.6559 0.6413 0.7250 0.64 0.6 0.66 0.6 0.64 rs3829658 COSM148702 1(stomach);3(prostate) . . . . . . . . . . . 0.215 0.193 T 0.345 0.318 B 0.056 0.247 B 0.229 0.035 N 1 0.090 P 0.22 0.096 N 3.57 0.047 T -0.23 0.107 N 0.034 0.016 -1.041 0.169 T 0.000 0.000 T . . . 0.395 0.132 6.571 0.446 0.034 0.000 0.001 N c -1.081 -1.187 0.005 0.108 0.487 0.133 0 -0.038 0.131 -0.005 0.127 -0.806 0.032 0.000 0.063 0.000 0.016 3.558 0.074 Immunoglobulin-like fold ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Thyroid|Uterus|Vagina|Whole_Blood 0.6628 0.5789 0.8114 0.5838 0.4471 0.6262 0.6600 0.6602 0.7261 0.6237 0.5857 0.8019 0.5767 0.4527 0.6263 0.6520 0.6616 hom 5785.18 190 19 52000672 . G A 5785.18 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.62;MQ0=0;QD=30.45;VQSLOD=8.6481;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5784,454,0 19 52002729 52002729 G A exonic SIGLEC12 synonymous SNV SIGLEC12:NM_033329:exon2:c.C696T:p.G232G,SIGLEC12:NM_053003:exon3:c.C1050T:p.G350G 0.57 0.55 0.72 0.37 0.63 0.61 0.6142 0.5582 0.7618 0.3523 0.6174 0.6307 0.6115 0.6153 0.61 0.57 0.64 0.55 0.62 rs2009362 COSM4132347 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6152 0.5529 0.7590 0.5651 0.3538 0.6163 0.6320 0.6227 0.5954 0.5944 0.5594 0.7374 0.5596 0.3705 0.6158 0.6254 0.6137 hom 2939.71 101 19 52002729 . G A 2939.71 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5149;MQ=58.83;MQ0=0;QD=29.11;VQSLOD=8.8918;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:2973,241,0 19 52003331 52003331 G C exonic SIGLEC12 nonsynonymous SNV SIGLEC12:NM_033329:exon1:c.C297G:p.H99Q,SIGLEC12:NM_053003:exon2:c.C651G:p.H217Q 0.83 0.97 0.9 0.51 0.86 0.86 0.8399 0.9446 0.9125 0.5020 0.8116 0.8469 0.8326 0.8829 0.88 0.95 0.85 0.83 0.84 rs6509544 COSM4000847 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.005 0.119 B 0.0 0.013 B 0.802 0.068 N 1 0.090 P -2.02 0.002 N -0.04 0.633 T 2.01 0.004 N 0.005 0.001 -0.955 0.402 T 0.000 0.000 T . . . -2.152 0.006 0.001 0.226 0.009 0.000 0.001 N c -2.287 -2.240 0.006 0.110 0.487 0.133 0 -0.443 0.116 0.013 0.131 -3.211 0.001 0.000 0.063 0.000 0.016 2.497 0.043 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Thyroid|Uterus|Vagina|Whole_Blood 0.8395 0.9462 0.9156 0.7939 0.5060 0.8152 0.8492 0.8462 0.8862 0.8497 0.9408 0.9105 0.7848 0.5050 0.8087 0.8418 0.8425 hom 5950.72 182 19 52003331 . G C 5950.72 Mask AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2837;MQ=59.47;MQ0=0;QD=32.70;VQSLOD=7.6089;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:5950,457,0 19 52004743 52004743 G A exonic SIGLEC12 nonsynonymous SNV SIGLEC12:NM_053003:exon1:c.C245T:p.A82V 0.57 0.55 0.72 0.37 0.63 0.62 0.6133 0.5570 0.7627 0.3509 0.6241 0.6314 0.6035 0.6040 0.62 0.57 0.64 0.56 0.61 rs3810110 COSM148704 1(stomach);1(haematopoietic_and_lymphoid_tissue);6(prostate);1(thyroid) . . . . . . . . . . . 0.3 0.145 T 0.118 0.250 B 0.007 0.121 B . . . 1 0.090 P 1.465 0.370 L 1.95 0.225 T -0.58 0.174 N 0.017 0.003 -0.975 0.362 T 0.000 0.000 T . . . -0.171 0.078 1.260 0.881 0.172 0.004 0.020 N c -1.161 -1.314 0.992 0.326 0.487 0.133 0 -3.74 0.041 -0.819 0.045 0.688 0.296 0.000 0.063 0.127 0.198 0.722 0.009 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254415.3|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Thyroid|Uterus|Vagina|Whole_Blood 0.6195 0.5533 0.7589 0.5651 0.3535 0.6232 0.6353 0.6265 0.6052 0.5976 0.5597 0.7422 0.5633 0.3697 0.6206 0.6298 0.6224 hom 6308.81 203 19 52004743 . G A 6308.81 Mask AC=2;AF=1.00;AN=2;DP=203;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7311;MQ=58.98;MQ0=0;QD=31.08;VQSLOD=7.0019;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,202:203:99:6308,518,0 19 52004791 52004791 - C exonic SIGLEC12 frameshift insertion SIGLEC12:NM_053003:exon1:c.196dupG:p.A66Gfs*49 0.59 0.6 0.74 0.37 0.67 0.63 0.6407 0.5947 0.7751 0.3508 0.6712 0.6640 0.6377 0.6207 0.65 0.61 0.67 0.011 . rs66949844 . . Benign not_specified RCV000454820.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6458 0.5903 0.7724 0.5902 0.3540 0.6672 0.6670 0.6611 0.6215 0.6329 0.5918 0.7530 0.5788 0.3658 0.6645 0.6703 0.6667 hom 5834.72 157 19 52004791 . G GC 5834.72 Mask AC=2;AF=1.00;AN=2;DP=157;DS;FS=0.000;HRun=3;HaplotypeScore=1107.7637;MQ=59.51;MQ0=0;QD=37.16;set=variant2 GT:AD:DP:GQ:PL 1/1:14,143:157:99:5835,433,0 19 52004795 52004795 G T exonic SIGLEC12 synonymous SNV SIGLEC12:NM_053003:exon1:c.C193A:p.R65R 0.57 0.55 0.72 0.37 0.63 0.63 0.6131 0.5571 0.7625 0.3508 0.6242 0.6313 0.6024 0.6034 . . . . . rs61742108 COSM3933142 1(haematopoietic_and_lymphoid_tissue);2(urinary_tract);1(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6194 0.5534 0.7589 0.5650 0.3532 0.6236 0.6355 0.6262 0.6043 0.5965 0.5590 0.7452 0.5582 0.3655 0.6196 0.6283 0.625 hom 5002.02 149 19 52004795 . G T 5002.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.070;DP=149;Dels=0.00;FS=2.752;HRun=0;HaplotypeScore=3.9914;MQ=59.95;MQ0=0;MQRankSum=-0.041;QD=33.57;ReadPosRankSum=2.367;VQSLOD=3.5139;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,147:149:99:4938,346,0 19 52033742 52033742 G A exonic SIGLEC6 nonsynonymous SNV SIGLEC6:NM_001177548:exon4:c.C736T:p.P246S 0.58 0.56 0.69 0.46 0.58 0.64 0.5952 0.5701 0.7328 0.4457 0.6127 0.5860 0.5813 0.6227 0.59 0.59 0.6 0.53 0.56 rs2305772 . . . . . . . . . . . . . 0.705 0.041 T 0.928 0.496 P 0.732 0.535 P . . . 1 0.213 P . . . 1.52 0.307 T 0.01 0.069 N 0.01 0.001 -0.982 0.346 T 0.000 0.000 T . . . -0.018 0.092 2.419 0.276 0.014 0.038 0.090 N c -0.662 -0.832 0.004 0.105 0.516 0.203 0 -0.917 0.099 -0.499 0.064 0.472 0.278 0.056 0.214 0.068 0.175 5.191 0.144 Immunoglobulin-like domain ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2|ENSG00000254521.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Thyroid|Vagina|Whole_Blood 0.5990 0.5651 0.7245 0.4824 0.4409 0.6136 0.5911 0.5878 0.6246 0.5797 0.5596 0.7237 0.4801 0.4561 0.6088 0.5894 0.6168 hom 2414.69 77 19 52033742 . G A 2414.69 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=31.36;VQSLOD=9.2051;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2448,190,0 19 52085095 52085095 G A exonic ZNF175 synonymous SNV ZNF175:NM_007147:exon4:c.G255A:p.P85P 0.046 0.03 0.072 0.002 0.11 0.031 0.0783 0.0369 0.0615 0.0006 0.0633 0.1082 0.0869 0.0397 0.089 0.039 0.12 0.033 0.11 rs35431178 COSM5419986 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0767 0.0315 0.0615 0.1559 0.0006 0.0621 0.1045 0.1023 0.0388 0.0723 0.0335 0.0907 0.1589 0.0019 0.0627 0.1018 0.0743 hom 1678.27 60 19 52085095 . G A 1678.27 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=27.97;VQSLOD=8.0486;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1711,132,0 19 52090014 52090014 C T exonic ZNF175 nonsynonymous SNV ZNF175:NM_007147:exon5:c.C430T:p.R144C 0.043 0.02 0.072 0.001 0.11 0.031 0.0760 0.0280 0.0602 0.0007 0.0616 0.1067 0.0850 0.0382 0.087 0.033 0.12 0.022 0.09 rs35625154 . . . . . . . . . . . . . 0.024 0.477 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 N 0.345 0.112 N 3.14 0.079 T -1.31 0.328 N 0.009 0.001 -0.921 0.455 T 0.000 0.001 T . . . 2.563 0.369 19.87 0.368 0.024 0.027 0.072 N c -1.301 -1.351 0.126 0.170 0.707 0.730 0 0.051 0.135 -0.672 0.053 -0.020 0.129 0.000 0.063 0.000 0.016 2.957 0.055 . . . 0.0763 0.0243 0.0613 0.1560 0.0007 0.0620 0.1046 0.1017 0.0388 0.0700 0.0261 0.0883 0.1589 0.0019 0.0624 0.1017 0.0735 hom 1661.14 50 19 52090014 . C T 1661.14 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.71;MQ0=0;QD=33.22;VQSLOD=8.5493;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1694,135,0 19 52090100 52090100 T C exonic ZNF175 synonymous SNV ZNF175:NM_007147:exon5:c.T516C:p.N172N 0.15 0.099 0.17 0.024 0.27 0.19 0.2046 0.1046 0.1217 0.0104 0.2153 0.2627 0.2258 0.1874 0.22 0.11 0.27 0.11 0.25 rs45541134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2026 0.1005 0.1259 0.2970 0.0126 0.2151 0.2608 0.2369 0.1875 0.1967 0.1070 0.1699 0.2583 0.0161 0.2296 0.2586 0.2311 hom 2202.47 71 19 52090100 . T C 2202.47 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=59.35;MQ0=0;QD=31.02;VQSLOD=9.3824;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2235,172,0 19 52115645 52115645 G C exonic SIGLEC5 nonsynonymous SNV SIGLEC5:NM_003830:exon9:c.C1495G:p.P499A 0.44 0.33 0.47 0.58 0.42 0.42 0.4405 0.3225 0.4972 0.5557 0.4480 0.4473 0.4102 0.3849 0.4 0.32 0.44 0.42 0.31 rs3829655 COSM5438075 1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.114 0.286 T 0.953 0.523 P 0.388 0.423 B . . . 1 0.090 P 2.6 0.763 M 0.27 0.592 T -3.43 0.673 D 0.069 0.302 -0.957 0.397 T 0.000 0.000 T . . . 0.284 0.121 5.534 0.563 0.054 0.028 0.074 N c -0.661 -0.893 0.003 0.098 0.554 0.283 0 -1.27 0.088 0.287 0.185 -0.037 0.125 0.005 0.169 0.007 0.100 1.868 0.030 . . . 0.4446 0.3250 0.4885 0.4945 0.5564 0.4629 0.4413 0.4379 0.3776 0.4145 0.3245 0.4629 0.5066 0.5715 0.4685 0.4309 0.4440 het 1485.85 110 19 52115645 . G C 1485.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.693;DP=110;Dels=0.00;FS=3.259;HRun=0;HaplotypeScore=0.0000;MQ=59.37;MQ0=0;MQRankSum=0.222;QD=13.51;ReadPosRankSum=1.029;VQSLOD=6.2100;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,59:110:99:1516,0,1380 19 52130830 52130830 C A exonic SIGLEC5 synonymous SNV SIGLEC5:NM_003830:exon6:c.G1167T:p.G389G 0.33 0.38 0.56 0.0089 0.46 0.29 0.4231 0.4115 0.5403 0.0048 0.4372 0.4827 0.3859 0.3232 0.46 0.42 0.48 0.41 0.35 rs8107754 COSM4132352 1(breast);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4282 0.4086 0.5396 0.5022 0.0061 0.4410 0.4812 0.4511 0.3242 0.4235 0.4015 0.5239 0.4834 0.0043 0.4507 0.4659 0.4672 het 1176.94 86 19 52130830 . C A 1176.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.507;DP=86;Dels=0.00;FS=4.699;HRun=0;HaplotypeScore=1.8237;MQ=59.68;MQ0=0;MQRankSum=0.048;QD=13.69;ReadPosRankSum=1.874;VQSLOD=5.3779;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,46:86:99:1207,0,1202 19 52131310 52131310 C T exonic SIGLEC5 synonymous SNV SIGLEC5:NM_003830:exon5:c.G774A:p.P258P 0.072 0.18 0.05 0.001 0.041 0.049 0.0502 0.1730 0.0272 0.0007 0.0234 0.0436 0.0639 0.0544 0.088 0.17 0.044 0.054 0.11 rs61736486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0472 0.1733 0.0325 0.0504 0.0011 0.0241 0.0446 0.0501 0.0452 0.0768 0.1764 0.0442 0.0662 0.0018 0.0252 0.0436 0.0389 het 950.52 70 19 52131310 . C T 950.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.190;DP=70;Dels=0.00;FS=5.534;HRun=0;HaplotypeScore=3.7950;MQ=60.00;MQ0=0;MQRankSum=2.098;QD=13.58;ReadPosRankSum=0.417;VQSLOD=4.0208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:981,0,874 19 52249702 52249702 G T exonic FPR1 synonymous SNV FPR1:NM_002029:exon2:c.C546A:p.P182P,FPR1:NM_001193306:exon3:c.C546A:p.P182P 0.35 0.32 0.42 0.45 0.28 0.32 0.3285 0.3038 0.5154 0.4882 0.2900 0.2826 0.2941 0.3325 0.29 0.3 0.28 0.35 0.43 rs2070746 . . Benign not_specified RCV000456043.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3382 0.3042 0.5066 0.3390 0.4889 0.2959 0.2806 0.3135 0.3301 0.3029 0.2996 0.4439 0.35 0.4800 0.2719 0.2826 0.3265 hom 6022.61 183 19 52249702 . G T 6022.61 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=59.47;MQ0=0;QD=32.91;VQSLOD=9.6650;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,182:183:99:6022,481,0 19 52249947 52249947 C G exonic FPR1 nonsynonymous SNV FPR1:NM_002029:exon2:c.G301C:p.V101L,FPR1:NM_001193306:exon3:c.G301C:p.V101L 0.39 0.31 0.5 0.49 0.37 0.36 0.3891 0.3201 0.6231 0.4699 0.4420 0.3541 0.3800 0.3472 0.34 0.32 0.36 0.39 0.37 rs2070745 COSM148708 1(stomach);1(pancreas);1(prostate);1(large_intestine) Benign not_specified RCV000455030.1 MedGen CN169374 . . . . . . 0.238 0.178 T 0.001 0.067 B 0.023 0.188 B 0.000 0.439 D 1 0.090 P 0.965 0.241 L 1.24 0.367 T -1.0 0.264 N 0.046 0.036 -0.917 0.460 T 0.000 0.000 T . . . -0.063 0.088 2.025 0.349 0.022 0.029 0.076 N c -1.220 -1.328 0.852 0.250 0.487 0.133 0 -2.04 0.069 0.283 0.185 -0.334 0.073 0.001 0.137 0.021 0.135 3.432 0.070 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.4009 0.3144 0.6097 0.2683 0.4777 0.4353 0.3581 0.3904 0.3477 0.3701 0.3207 0.5586 0.2980 0.4746 0.4250 0.3626 0.4160 het 2367.50 205 19 52249947 . C G 2367.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.023;DP=205;Dels=0.00;FS=2.460;HRun=1;HaplotypeScore=4.2656;MQ=59.23;MQ0=0;MQRankSum=0.437;QD=11.55;ReadPosRankSum=0.855;VQSLOD=5.1568;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:114,90:205:99:2397,0,3048 19 52250216 52250216 A G exonic FPR1 nonsynonymous SNV FPR1:NM_002029:exon2:c.T32C:p.I11T,FPR1:NM_001193306:exon3:c.T32C:p.I11T 0.83 0.79 0.79 0.96 0.77 0.87 0.8053 0.7906 0.8312 0.9626 0.8096 0.7698 0.8149 0.8549 0.77 0.79 0.76 0.8 0.75 rs5030878 . . Benign not_specified RCV000455423.1 MedGen CN169374 . . . . . . 0.626 0.052 T 0.008 0.135 B 0.013 0.154 B 0.106 0.026 N 1 0.090 P -0.345 0.033 N 1.18 0.377 T 0.21 0.048 N 0.018 0.004 -1.005 0.286 T 0.000 0.000 T . . . -2.181 0.006 0.001 0.495 0.041 0.001 0.005 N c -1.563 -1.665 0.999 0.388 0.487 0.133 0 -6.88 0.015 -0.885 0.042 0.174 0.246 0.000 0.063 0.005 0.090 0.337 0.003 . . . 0.8065 0.7929 0.8278 0.8100 0.9611 0.8005 0.7664 0.7911 0.8537 0.7936 0.7876 0.8270 0.8046 0.9678 0.8054 0.7719 0.8187 het 1346.09 92 19 52250216 . A G 1346.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.140;DP=92;Dels=0.00;FS=3.246;HRun=1;HaplotypeScore=0.9979;MQ=59.59;MQ0=0;MQRankSum=0.914;QD=14.63;ReadPosRankSum=-1.812;VQSLOD=6.0389;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,47:92:99:1376,0,1111 19 52327784 52327784 C T exonic FPR3 synonymous SNV FPR3:NM_002030:exon2:c.C783T:p.G261G 0.23 0.1 0.3 0.26 0.28 0.26 0.2770 0.1258 0.3419 0.2558 0.2225 0.3003 0.2775 0.2654 0.25 0.13 0.31 0.26 0.34 rs3752125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2822 0.1214 0.3412 0.3246 0.2501 0.2197 0.3042 0.3052 0.2638 0.2392 0.1276 0.3616 0.2980 0.2478 0.2167 0.2984 0.2688 het 777.69 78 19 52327784 . C T 777.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.928;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5616;MQ=59.11;MQ0=0;MQRankSum=0.884;QD=9.97;ReadPosRankSum=0.377;VQSLOD=6.6434;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,32:78:99:808,0,1289 19 52376507 52376507 T C exonic ZNF577 nonsynonymous SNV ZNF577:NM_001135590:exon7:c.A559G:p.K187E,ZNF577:NM_032679:exon7:c.A736G:p.K246E 0.51 0.68 0.46 0.3 0.39 0.64 0.4420 0.6485 0.4718 0.2907 0.3683 0.3869 0.4224 0.6218 0.47 0.64 0.39 0.54 0.48 rs2288868 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.189 P -0.745 0.017 N 3.19 0.074 T 3.55 0.001 N 0.049 0.031 -0.987 0.334 T 0.000 0.000 T . . . -1.612 0.014 0.002 0.599 0.062 0.008 0.031 N c -1.556 -1.513 0.002 0.087 0.672 0.522 0 0.885 0.182 -2.179 0.013 -1.318 0.013 0.000 0.063 0.000 0.016 7.522 0.266 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000161551.8|ENSG00000269483.1|ENSG00000161551.8|ENSG00000161551.8|ENSG00000269483.1|ENSG00000161551.8|ENSG00000269483.1|ENSG00000161551.8|ENSG00000161551.8|ENSG00000161551.8|ENSG00000161551.8|ENSG00000269483.1|ENSG00000161551.8|ENSG00000161551.8|ENSG00000161551.8|ENSG00000161551.8|ENSG00000161551.8|ENSG00000161551.8|ENSG00000269483.1|ENSG00000161551.8|ENSG00000161551.8|ENSG00000161551.8|ENSG00000269483.1|ENSG00000269483.1|ENSG00000161551.8|ENSG00000161551.8|ENSG00000269483.1|ENSG00000161551.8|ENSG00000161551.8|ENSG00000269483.1|ENSG00000161551.8|ENSG00000269483.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid 0.4360 0.6459 0.4675 0.5229 0.2859 0.3576 0.3782 0.4250 0.6214 0.4475 0.6484 0.4737 0.5166 0.2893 0.3446 0.3719 0.4008 het 814.21 45 19 52376507 . T C 814.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.083;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=59.49;MQ0=0;MQRankSum=0.710;QD=18.09;ReadPosRankSum=-0.253;VQSLOD=6.4206;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,30:45:99:844,0,378 19 52376952 52376952 T A exonic ZNF577 synonymous SNV ZNF577:NM_032679:exon7:c.A291T:p.V97V 0.51 0.68 0.46 0.3 0.39 0.64 0.4545 0.6539 0.4863 0.3013 0.3769 0.3988 0.4349 0.6387 0.47 0.63 0.39 0.54 0.42 rs8107969 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4352 0.6449 0.4676 0.5253 0.2859 0.3598 0.3769 0.4258 0.6207 0.4480 0.6490 0.4737 0.5166 0.2909 0.3448 0.3724 0.4029 het 483.39 37 19 52376952 . T A 483.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.240;DP=37;Dels=0.00;FS=1.399;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.960;QD=13.06;ReadPosRankSum=0.320;VQSLOD=5.9710;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,20:37:99:513,0,441 19 52447624 52447624 C T exonic ZNF613 nonsynonymous SNV ZNF613:NM_001031721:exon6:c.C488T:p.S163F,ZNF613:NM_024840:exon6:c.C380T:p.S127F 0.015 0.0015 0.023 0.004 0.038 0.017 0.0218 0.0031 0.0151 0.0009 0.0690 0.0236 0.0335 0.0223 0.015 0.0027 0.021 . 0.016 rs33998555 COSM5897215 1(skin) . . . . . . . . . . . 0.172 0.226 T 0.078 0.229 B 0.039 0.223 B 0.887 0.087 N 1 0.090 N 1.915 0.514 L 3.4 0.064 T -3.69 0.704 D 0.076 0.198 -0.912 0.466 T 0.003 0.010 T . . . -0.421 0.060 0.345 0.131 0.002 0.108 0.160 N c -0.928 -0.959 0.001 0.081 0.563 0.310 0 2.41 0.285 0.434 0.211 0.630 0.290 0.000 0.063 0.020 0.134 4.375 0.106 . . . 0.0221 0.0030 0.0136 0.0443 0.0005 0.0604 0.0208 0.0294 0.0218 0.0207 0.0036 0.0107 0.0298 0.0006 0.0598 0.0230 0.0377 het 1405.60 111 19 52447624 . C T 1405.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.547;DP=111;Dels=0.00;FS=6.558;HRun=1;HaplotypeScore=1.8888;MQ=59.58;MQ0=0;MQRankSum=-0.589;QD=12.66;ReadPosRankSum=-0.145;VQSLOD=4.9586;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,51:111:99:1436,0,1593 19 52468278 52468278 G A exonic ZNF350 synonymous SNV ZNF350:NM_021632:exon5:c.C1428T:p.S476S 0.016 0.0068 0.025 0.004 0.037 0.015 0.0226 0.0074 0.0172 0.0010 0.0697 0.0240 0.0374 0.0221 0.016 0.0064 0.021 . 0.016 rs4988336 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0231 0.0082 0.0153 0.0440 0.0006 0.0614 0.0213 0.0312 0.0223 0.0226 0.0087 0.0131 0.0298 0.0006 0.0604 0.0236 0.0387 het 625.35 50 19 52468278 . G A 625.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.869;DP=50;Dels=0.00;FS=4.891;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-0.195;QD=12.51;ReadPosRankSum=0.564;VQSLOD=5.8088;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,23:50:99:655,0,744 19 52471872 52471872 A G exonic ZNF350 nonsynonymous SNV ZNF350:NM_021632:exon4:c.T197C:p.L66P 0.27 0.37 0.18 0.24 0.19 0.29 0.2079 0.3806 0.1742 0.2208 0.2579 0.1648 0.2181 0.2693 0.23 0.38 0.16 0.29 0.2 rs2278420 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.81 0.003 N 3.74 0.040 T 4.42 0.000 N 0.029 0.010 -0.950 0.410 T 0.000 0.000 T . . . -1.700 0.013 0.002 0.039 0.000 0.001 0.004 N c -1.779 -1.705 0.000 0.064 0.707 0.730 0 0.908 0.184 0.080 0.145 -0.756 0.034 0.000 0.063 0.034 0.151 2.750 0.049 Krueppel-associated box ENSG00000161551.8|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000269235.1 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Heart_Left_Ventricle|Testis 0.2030 0.3798 0.1768 0.2021 0.2210 0.2388 0.1593 0.1964 0.2675 0.2420 0.3866 0.1766 0.2033 0.2068 0.2338 0.1701 0.2102 het 2700.22 203 19 52471872 . A G 2700.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.123;DP=203;Dels=0.00;FS=0.517;HRun=1;HaplotypeScore=3.7324;MQ=58.66;MQ0=0;MQRankSum=-0.778;QD=13.30;ReadPosRankSum=-0.525;VQSLOD=5.7247;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,104:203:99:2730,0,2709 19 52496149 52496149 C T exonic ZNF615 nonsynonymous SNV ZNF615:NM_001321317:exon4:c.G2195A:p.R732K,ZNF615:NM_001321320:exon5:c.G2180A:p.R727K,ZNF615:NM_001321323:exon5:c.G2228A:p.R743K,ZNF615:NM_001321318:exon6:c.G2201A:p.R734K,ZNF615:NM_001321319:exon6:c.G2213A:p.R738K,ZNF615:NM_001321321:exon6:c.G2213A:p.R738K,ZNF615:NM_001321322:exon6:c.G2201A:p.R734K,ZNF615:NM_198480:exon6:c.G2180A:p.R727K,ZNF615:NM_001199324:exon7:c.G2213A:p.R738K 0.48 0.61 0.4 0.39 0.31 0.61 0.3671 0.5903 0.4117 0.3538 0.3412 0.2852 0.3433 0.5447 0.38 0.58 0.28 0.47 0.2 rs16983353 COSM148710;COSM148709 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(oesophagus);6(prostate);3(large_intestine) . . . . . . . . . . . 0.287 0.166 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.115 0.086 N 1.32 0.352 T 0.56 0.027 N 0.02 0.004 -0.958 0.396 T 0.000 0.000 T . . . 1.081 0.198 11.11 0.934 0.225 0.000 0.002 N c -1.116 -1.073 0.001 0.078 0.615 0.372 0 2.5 0.292 0.220 0.173 0.043 0.157 0.000 0.063 0.986 0.517 6.112 0.192 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000269483.1|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000269483.1|ENSG00000197619.9|ENSG00000197619.9|ENSG00000269235.1|ENSG00000256087.2|ENSG00000197619.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid 0.3619 0.5916 0.4087 0.3409 0.3498 0.3235 0.2805 0.3368 0.5371 0.3794 0.5797 0.3911 0.3146 0.3480 0.3216 0.2830 0.3408 het 2853.99 210 19 52496149 . C T 2853.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.376;DP=210;Dels=0.00;FS=3.120;HRun=1;HaplotypeScore=1.9862;MQ=59.22;MQ0=0;MQRankSum=1.100;QD=13.59;ReadPosRankSum=0.120;VQSLOD=6.5759;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:96,114:210:99:2884,0,2558 19 52497250 52497250 G A exonic ZNF615 nonsynonymous SNV ZNF615:NM_001321317:exon4:c.C1094T:p.T365I,ZNF615:NM_001321320:exon5:c.C1079T:p.T360I,ZNF615:NM_001321323:exon5:c.C1127T:p.T376I,ZNF615:NM_001321318:exon6:c.C1100T:p.T367I,ZNF615:NM_001321319:exon6:c.C1112T:p.T371I,ZNF615:NM_001321321:exon6:c.C1112T:p.T371I,ZNF615:NM_001321322:exon6:c.C1100T:p.T367I,ZNF615:NM_198480:exon6:c.C1079T:p.T360I,ZNF615:NM_001199324:exon7:c.C1112T:p.T371I 0.48 0.61 0.4 0.39 0.31 0.61 0.3666 0.5913 0.4115 0.3532 0.3412 0.2849 0.3414 0.5425 0.38 0.58 0.28 0.47 0.24 rs1978717 COSM148712;COSM148711 1(haematopoietic_and_lymphoid_tissue);1(stomach);4(prostate);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 0.615 0.157 N 3.15 0.078 T 1.48 0.008 N 0.008 0.000 -0.966 0.380 T 0.000 0.000 T . . . -3.469 0.000 0.001 0.715 0.093 0.000 0.001 N c -2.194 -2.224 0.031 0.140 0.563 0.310 0 -3.42 0.045 -2.154 0.014 -1.343 0.013 0.000 0.063 0.002 0.062 9.982 0.408 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2;Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000269483.1|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000269483.1|ENSG00000197619.9|ENSG00000197619.9|ENSG00000269235.1|ENSG00000256087.2|ENSG00000197619.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid 0.3614 0.5913 0.4085 0.3411 0.3495 0.3236 0.2804 0.3359 0.5347 0.3792 0.5799 0.3888 0.3146 0.3495 0.3215 0.2824 0.3429 het 1722.28 129 19 52497250 . G A 1722.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.314;DP=129;Dels=0.00;FS=0.656;HRun=1;HaplotypeScore=8.6524;MQ=58.74;MQ0=0;MQRankSum=-0.007;QD=13.35;ReadPosRankSum=-0.629;VQSLOD=4.6547;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,63:129:99:1752,0,1685 19 52497943 52497943 G A exonic ZNF615 nonsynonymous SNV ZNF615:NM_001321317:exon4:c.C401T:p.T134M,ZNF615:NM_001321320:exon5:c.C386T:p.T129M,ZNF615:NM_001321323:exon5:c.C434T:p.T145M,ZNF615:NM_001321318:exon6:c.C407T:p.T136M,ZNF615:NM_001321319:exon6:c.C419T:p.T140M,ZNF615:NM_001321321:exon6:c.C419T:p.T140M,ZNF615:NM_001321322:exon6:c.C407T:p.T136M,ZNF615:NM_198480:exon6:c.C386T:p.T129M,ZNF615:NM_001199324:exon7:c.C419T:p.T140M 0.48 0.61 0.4 0.39 0.31 0.61 0.3675 0.5926 0.4117 0.3537 0.3426 0.2857 0.3429 0.5449 0.38 0.58 0.28 0.47 0.25 rs10500311 COSM148713;COSM148714 2(haematopoietic_and_lymphoid_tissue);1(stomach);6(prostate);1(thyroid);3(large_intestine) . . . . . . . . . . . 0.293 0.148 T 0.005 0.119 B 0.004 0.093 B . . . 1 0.090 P -0.075 0.048 N 3.15 0.080 T -0.71 0.216 N 0.028 0.009 -1.019 0.241 T 0.000 0.000 T . . . -0.064 0.088 2.013 0.326 0.019 0.000 0.001 N c -1.254 -1.283 0.000 0.065 0.563 0.310 0 1.3 0.207 -1.152 0.033 0.003 0.136 0.000 0.063 0.002 0.062 4.163 0.097 . ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000269483.1|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000269483.1|ENSG00000197619.9|ENSG00000197619.9|ENSG00000269235.1|ENSG00000256087.2|ENSG00000197619.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid 0.3620 0.5917 0.4085 0.3408 0.3490 0.3242 0.2808 0.3374 0.5371 0.3802 0.5799 0.3897 0.3146 0.3484 0.3229 0.2840 0.3415 het 743.91 54 19 52497943 . G A 743.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.099;DP=54;Dels=0.00;FS=2.329;HRun=0;HaplotypeScore=1.6634;MQ=58.00;MQ0=0;MQRankSum=-1.128;QD=13.78;ReadPosRankSum=0.729;VQSLOD=4.7666;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,29:54:99:774,0,677 19 52519608 52519608 C T exonic ZNF614 nonsynonymous SNV ZNF614:NM_025040:exon5:c.G1243A:p.V415I 0.4 0.38 0.34 0.4 0.28 0.61 0.3349 0.3827 0.3888 0.3538 0.2935 0.2702 0.3205 0.5356 0.3 0.38 0.27 0.33 0.29 rs8104890 COSM3757116 1(haematopoietic_and_lymphoid_tissue);1(pancreas);2(oesophagus);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.004 0.112 B 0.002 0.063 B . . . 1 0.090 P -0.13 0.045 N 3.18 0.075 T 0.54 0.028 N 0.01 0.001 -0.923 0.451 T 0.000 0.000 T . . . -0.079 0.086 1.892 0.544 0.050 0.000 0.003 N c -1.536 -1.498 0.030 0.140 0.707 0.730 0 -0.11 0.129 -0.467 0.067 -0.834 0.030 0.000 0.063 0.708 0.311 4.080 0.093 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000256087.2|ENSG00000161551.8|ENSG00000197619.9|ENSG00000197619.9|ENSG00000197619.9|ENSG00000256087.2|ENSG00000256087.2|ENSG00000197619.9|ENSG00000197619.9|ENSG00000256087.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Tibial|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.3323 0.3823 0.3800 0.3073 0.3519 0.2757 0.2686 0.3137 0.5282 0.3105 0.3784 0.3747 0.3167 0.3513 0.2737 0.2705 0.3244 het 3211.36 250 19 52519608 . C T 3211.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.468;DP=250;DS;Dels=0.00;FS=2.169;HRun=0;HaplotypeScore=2.8888;MQ=59.02;MQ0=0;MQRankSum=-0.422;QD=12.85;ReadPosRankSum=-1.143;VQSLOD=6.1638;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:130,120:250:99:3241,0,3613 19 52520518 52520518 T C exonic ZNF614 synonymous SNV ZNF614:NM_025040:exon5:c.A333G:p.R111R 0.048 0.12 0.032 0.006 0.041 0.012 0.0320 0.0972 0.0185 0.0009 0.0687 0.0286 0.0364 0.0159 0.047 0.091 0.025 0.022 0.041 rs73934728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0312 0.0974 0.0183 0.0833 0.0009 0.0610 0.0240 0.0358 0.0162 0.0503 0.0991 0.0179 0.0762 0.0006 0.0596 0.0269 0.0428 het 907.86 72 19 52520518 . T C 907.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.600;DP=72;Dels=0.00;FS=6.240;HRun=1;HaplotypeScore=1.6643;MQ=58.01;MQ0=0;MQRankSum=1.167;QD=12.61;ReadPosRankSum=1.585;VQSLOD=4.3656;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,38:72:99:938,0,872 19 52520607 52520607 C T exonic ZNF614 nonsynonymous SNV ZNF614:NM_025040:exon5:c.G244A:p.G82R 0.26 0.15 0.24 0.4 0.21 0.31 0.2387 0.1579 0.3102 0.3939 0.2642 0.1979 0.2442 0.3152 0.18 0.15 0.19 0.25 0.17 rs61574510 . . . . . . . . . . . . . 0.661 0.101 T 0.006 0.126 B 0.001 0.040 B . . . 1 0.090 P -0.2 0.042 N 5.99 0.063 T 0.73 0.021 N 0.022 0.007 -0.917 0.460 T 0.000 0.000 T . . . -0.273 0.070 0.763 0.554 0.052 0.001 0.007 N c -1.757 -1.809 0.001 0.079 0.563 0.310 0 -3.3 0.047 -2.708 0.009 -1.101 0.018 0.000 0.063 0.012 0.117 5.223 0.146 . ENSG00000256087.2|ENSG00000256087.2|ENSG00000256087.2|ENSG00000256087.2|ENSG00000256087.2 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Thyroid 0.2334 0.1464 0.2940 0.2063 0.3909 0.2491 0.1907 0.2276 0.2837 0.2035 0.1529 0.2804 0.2152 0.3734 0.2397 0.1997 0.2362 het 465.22 44 19 52520607 . C T 465.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.802;DP=44;Dels=0.00;FS=2.745;HRun=0;HaplotypeScore=0.5784;MQ=59.15;MQ0=0;MQRankSum=-1.253;QD=10.57;ReadPosRankSum=-1.014;VQSLOD=5.1083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,18:44:99:495,0,644 19 52521296 52521296 G A exonic ZNF614 nonsynonymous SNV ZNF614:NM_025040:exon4:c.C203T:p.T68I 0.54 0.76 0.44 0.52 0.28 0.61 0.3922 0.7131 0.5254 0.5189 0.3017 0.2749 0.3587 0.5416 0.42 0.71 0.27 0.62 0.29 rs9636139 COSM3757118 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);2(large_intestine) . . . . . . . . . . . 0.212 0.195 T 0.001 0.139 B 0.003 0.127 B . . . 1 0.090 P -0.24 0.039 N 6.15 0.057 T -3.29 0.657 D 0.005 0.000 -1.008 0.274 T 0.000 0.000 T . . . -0.725 0.044 0.063 0.121 0.002 0.001 0.007 N c -1.548 -1.537 0.008 0.116 0.707 0.730 0 -0.514 0.113 0.129 0.155 -0.321 0.076 0.000 0.063 0.032 0.149 5.233 0.147 Krueppel-associated box ENSG00000197619.9|ENSG00000197619.9|ENSG00000142556.14|ENSG00000197619.9|ENSG00000256087.2|ENSG00000197619.9|ENSG00000256087.2|ENSG00000197619.9|ENSG00000197619.9|ENSG00000256087.2|ENSG00000197619.9 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid 0.3863 0.7179 0.5085 0.3086 0.5127 0.2841 0.2725 0.3570 0.5336 0.4177 0.7076 0.4892 0.3179 0.5106 0.2822 0.2734 0.3510 het 1582.78 130 19 52521296 . G A 1582.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.534;DP=130;Dels=0.00;FS=1.455;HRun=0;HaplotypeScore=0.8941;MQ=59.47;MQ0=0;MQRankSum=-0.065;QD=12.18;ReadPosRankSum=-0.112;VQSLOD=6.9181;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,65:130:99:1613,0,1668 19 52537576 52537576 T G exonic ZNF432 synonymous SNV ZNF432:NM_001322284:exon5:c.A1356C:p.T452T,ZNF432:NM_001322285:exon5:c.A1356C:p.T452T,ZNF432:NM_014650:exon5:c.A1356C:p.T452T 0.56 0.76 0.47 0.52 0.31 0.65 0.4195 0.7155 0.5415 0.5184 0.2846 0.3082 0.3965 0.6005 0.44 0.71 0.3 0.64 0.36 rs11666149 COSM148715 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4130 0.7207 0.5277 0.3533 0.5126 0.2680 0.3067 0.3884 0.5931 0.4318 0.7103 0.5204 0.3642 0.5136 0.2636 0.3024 0.3507 het 1877.03 175 19 52537576 . T G 1877.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.938;DP=175;Dels=0.00;FS=7.990;HRun=1;HaplotypeScore=3.7717;MQ=59.27;MQ0=0;MQRankSum=0.765;QD=10.73;ReadPosRankSum=0.381;VQSLOD=4.1211;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,74:175:99:1907,0,2790 19 52538278 52538278 A C exonic ZNF432 synonymous SNV ZNF432:NM_001322284:exon5:c.T654G:p.S218S,ZNF432:NM_001322285:exon5:c.T654G:p.S218S,ZNF432:NM_014650:exon5:c.T654G:p.S218S 0.048 0.12 0.032 0.005 0.041 0.012 0.0318 0.0954 0.0181 0.0007 0.0686 0.0286 0.0352 0.0157 0.047 0.089 0.025 0.022 0.025 rs6509616 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0310 0.0960 0.0180 0.0832 0.0008 0.0611 0.0240 0.0358 0.0160 0.0500 0.0975 0.0167 0.0762 0.0006 0.0601 0.0272 0.0428 het 1859.69 164 19 52538278 . A C 1859.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.616;DP=164;Dels=0.00;FS=1.260;HRun=0;HaplotypeScore=0.8667;MQ=59.03;MQ0=0;MQRankSum=-0.616;QD=11.34;ReadPosRankSum=-2.041;VQSLOD=5.4707;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,78:164:99:1890,0,2398 19 52618506 52618506 C T exonic ZNF616 synonymous SNV ZNF616:NM_178523:exon4:c.G1911A:p.Q637Q 0.025 0.0008 0.026 0.012 0.043 0.051 0.0345 0.0043 0.0211 0.0160 0.0863 0.0352 0.0518 0.0478 0.024 0.0054 0.033 0.011 0.033 rs45591734 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0350 0.0046 0.0184 0.0436 0.0163 0.0807 0.0336 0.0423 0.0463 0.0314 0.0061 0.0107 0.0364 0.0136 0.0781 0.0370 0.0499 het 1524.51 118 19 52618506 . C T 1524.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.954;DP=118;DS;Dels=0.00;FS=16.595;HRun=1;HaplotypeScore=0.8941;MQ=58.98;MQ0=0;MQRankSum=1.192;QD=12.92;ReadPosRankSum=0.600;VQSLOD=3.5028;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,58:118:99:1555,0,1690 19 52619065 52619065 T C exonic ZNF616 nonsynonymous SNV ZNF616:NM_178523:exon4:c.A1352G:p.H451R 0.37 0.73 0.26 0.23 0.095 0.38 0.2006 0.6388 0.2683 0.2244 0.1128 0.0965 0.1656 0.3230 0.28 0.62 0.099 0.39 0.12 rs3764537 COSM4000858 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . 0.004 0.112 B 0.005 0.104 B . . . 1 0.090 P 0.46 0.130 N 2.43 0.153 T . . . 0.025 0.007 -0.943 0.422 T 0.000 0.000 T . . . -1.783 0.011 0.002 0.585 0.059 0.000 0.001 N c -1.878 -1.991 0.086 0.160 0.707 0.730 0 -2.15 0.067 -4.235 0.003 -1.134 0.018 0.000 0.063 0.001 0.043 3.949 0.088 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.1928 0.6496 0.2560 0.1625 0.2244 0.1056 0.0932 0.1656 0.3175 0.2630 0.6362 0.2578 0.1656 0.2306 0.1039 0.0964 0.1592 het 4056.12 242 19 52619065 . T C 4056.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.691;DP=242;Dels=0.00;FS=4.384;HRun=0;HaplotypeScore=14.0935;MQ=59.05;MQ0=0;MQRankSum=1.238;QD=16.76;ReadPosRankSum=-0.589;VQSLOD=2.4897;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,131:242:99:3412,0,2905 19 52659872 52659872 T C exonic ZNF836 nonsynonymous SNV ZNF836:NM_001102657:exon5:c.A1064G:p.E355G 0.013 0.0023 0.016 . 0.033 0.018 0.0257 0.0067 0.0222 0 0.0169 0.0351 0.0311 0.0184 0.026 0.0061 0.036 0.011 . rs61739527 . . . . . . . . . . . . . 0.021 0.491 D 0.999 0.764 D 0.961 0.688 D . . . 0.999 0.212 N 1.67 0.430 L 1.66 0.275 T -5.69 0.873 D 0.072 0.061 -1.087 0.061 T 0.038 0.165 T . . . 2.413 0.351 18.91 0.995 0.700 0.220 0.214 N c -0.265 -0.543 0.000 0.056 0.554 0.283 0 1.05 0.192 0.463 0.215 -0.577 0.045 0.058 0.215 0.035 0.152 6.080 0.190 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 . . 0.0258 0.0068 0.0213 0.0600 5.802e-05 0.0130 0.0353 0.0272 0.0182 0.0210 0.0063 0.0239 0.0695 0 0.0166 0.0314 0.0275 het 744.24 59 19 52659872 . T C 744.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.681;DP=59;Dels=0.00;FS=9.832;HRun=1;HaplotypeScore=2.8300;MQ=60.00;MQ0=0;MQRankSum=-1.493;QD=12.61;ReadPosRankSum=0.336;VQSLOD=3.2311;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,26:59:99:774,0,828 19 52659991 52659991 A G exonic ZNF836 synonymous SNV ZNF836:NM_001102657:exon5:c.T945C:p.Y315Y 0.5 0.65 0.37 0.57 0.25 0.55 0.3565 0.5996 0.4268 0.5903 0.1917 0.2579 0.2965 0.5036 0.37 0.59 0.26 0.48 . rs1821278 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3497 0.6039 0.4130 0.2818 0.5816 0.1881 0.2577 0.3067 0.5037 0.3610 0.5982 0.3831 0.2947 0.5653 0.1867 0.2465 0.2953 het 1109.27 66 19 52659991 . A G 1109.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.188;DP=66;Dels=0.00;FS=7.272;HRun=0;HaplotypeScore=4.7257;MQ=58.24;MQ0=0;MQRankSum=-1.611;QD=16.81;ReadPosRankSum=-0.211;VQSLOD=2.6404;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,41:66:99:1139,0,656 19 52660279 52660279 C T exonic ZNF836 nonsynonymous SNV ZNF836:NM_001102657:exon5:c.G657A:p.M219I 0.48 0.59 0.37 0.57 0.25 0.55 0.3469 0.5459 0.4194 0.5859 0.1889 0.2519 0.2938 0.5030 0.34 0.52 0.25 0.47 . rs1366245 COSM3757129;COSM3757130 1(large_intestine) . . . . . . . . . . . 0.16 0.237 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.54 0.025 N 2.52 0.142 T -1.1 0.285 N 0.008 0.000 -1.002 0.293 T 0.000 0.000 T . . . 0.537 0.145 7.709 0.553 0.052 0.001 0.006 N c -1.460 -1.499 0.000 0.066 0.563 0.310 0 1.49 0.219 -2.409 0.011 -1.012 0.022 0.000 0.063 0.016 0.126 2.279 0.038 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.3422 0.5529 0.4079 0.2829 0.5784 0.1859 0.2511 0.3018 0.5031 0.3436 0.5481 0.3720 0.2947 0.5645 0.1819 0.2416 0.2920 het 869.91 76 19 52660279 . C T 869.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.957;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8656;MQ=60.00;MQ0=0;MQRankSum=-1.280;QD=11.45;ReadPosRankSum=1.144;VQSLOD=5.4863;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,34:76:99:900,0,1141 19 52825235 52825235 A G exonic ZNF480 synonymous SNV ZNF480:NM_001297624:exon4:c.A603G:p.S201S,ZNF480:NM_001297625:exon4:c.A501G:p.S167S,ZNF480:NM_144684:exon5:c.A732G:p.S244S 0.53 0.54 0.51 0.4 0.61 0.57 0.5615 0.5296 0.4935 0.4137 0.6582 0.5890 0.5419 0.5576 0.57 0.53 0.59 0.54 0.6 rs8102373 COSM4000863;COSM4000864 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5586 0.5285 0.4897 0.4568 0.4226 0.6528 0.5941 0.5474 0.5629 0.5691 0.5308 0.4916 0.4338 0.4042 0.6615 0.5940 0.5777 hom 1633.61 49 19 52825235 . A G 1633.61 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.96;MQ0=0;QD=33.34;VQSLOD=8.5847;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:49:99:1667,138,0 19 52856955 52856955 C T exonic ZNF610 synonymous SNV ZNF610:NM_001161425:exon4:c.C84T:p.D28D,ZNF610:NM_001161426:exon4:c.C84T:p.D28D,ZNF610:NM_001161427:exon4:c.C84T:p.D28D,ZNF610:NM_173530:exon4:c.C84T:p.D28D 0.41 0.39 0.34 0.45 0.39 0.49 0.3915 0.4128 0.2997 0.3931 0.3864 0.3840 0.3885 0.4746 0.39 0.41 0.38 0.36 0.39 rs1961205 COSM148718 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3875 0.4138 0.3100 0.3508 0.3963 0.4028 0.3835 0.3842 0.4700 0.3886 0.4116 0.3138 0.3467 0.4042 0.3957 0.3779 0.3727 het 2623.63 187 19 52856955 . C T 2623.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.626;DP=187;Dels=0.00;FS=6.939;HRun=0;HaplotypeScore=1.7825;MQ=59.55;MQ0=0;MQRankSum=0.040;QD=14.03;ReadPosRankSum=-1.610;VQSLOD=4.8390;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,108:187:99:2654,0,2197 19 52869022 52869022 G T exonic ZNF610 nonsynonymous SNV ZNF610:NM_001161427:exon5:c.G262T:p.A88S,ZNF610:NM_001161425:exon6:c.G391T:p.A131S,ZNF610:NM_001161426:exon6:c.G391T:p.A131S,ZNF610:NM_173530:exon6:c.G391T:p.A131S 0.82 0.86 0.8 0.65 0.9 0.89 0.8476 0.8506 0.7232 0.6067 0.8756 0.8832 0.8667 0.9027 0.87 0.85 0.88 0.8 0.89 rs2241586 COSM4000865 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.14 0.009 N 3.55 0.048 T 1.32 0.009 N 0.027 0.072 -0.961 0.390 T 0.000 0.000 T . . . -2.900 0.001 0.001 0.123 0.002 0.001 0.005 N c -2.435 -2.451 0.259 0.188 0.554 0.283 0 -2.21 0.065 -1.482 0.024 -3.099 0.001 0.000 0.063 0.000 0.016 5.329 0.151 Krueppel-associated box . . 0.8404 0.8495 0.7313 0.8861 0.6096 0.8727 0.8798 0.8498 0.9017 0.8502 0.8493 0.7375 0.8742 0.5908 0.8799 0.8761 0.8712 hom 4728.27 156 19 52869022 . G T 4728.27 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9151;MQ=59.37;MQ0=0;QD=30.31;VQSLOD=8.4163;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:156:99:4693,382,0 19 52869278 52869278 G C exonic ZNF610 nonsynonymous SNV ZNF610:NM_001161427:exon5:c.G518C:p.R173P,ZNF610:NM_001161425:exon6:c.G647C:p.R216P,ZNF610:NM_001161426:exon6:c.G647C:p.R216P,ZNF610:NM_173530:exon6:c.G647C:p.R216P 0.81 0.82 0.8 0.64 0.9 0.89 0.8439 0.8218 0.7206 0.5945 0.8770 0.8831 0.8617 0.9018 0.86 0.82 0.88 0.79 0.9 rs321937 COSM4416763 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.17 0.228 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.29 0.325 L 4.29 0.025 T -0.63 0.185 N 0.03 0.103 -1.090 0.055 T 0.000 0.000 T . . . 0.640 0.155 8.431 0.506 0.043 0.019 0.058 N c -1.783 -1.840 0.000 0.065 0.615 0.372 0 -1.62 0.079 -3.598 0.005 -1.241 0.015 0.000 0.063 0.000 0.016 7.400 0.260 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.8371 0.8198 0.7284 0.8860 0.5988 0.8734 0.8796 0.8459 0.9002 0.8417 0.8220 0.7356 0.8742 0.5874 0.8803 0.8750 0.8697 hom 1983.71 60 19 52869278 . G C 1983.71 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.06;VQSLOD=13.3489;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2017,156,0 19 52869312 52869312 T C exonic ZNF610 synonymous SNV ZNF610:NM_001161427:exon5:c.T552C:p.T184T,ZNF610:NM_001161425:exon6:c.T681C:p.T227T,ZNF610:NM_001161426:exon6:c.T681C:p.T227T,ZNF610:NM_173530:exon6:c.T681C:p.T227T 0.79 0.84 0.77 0.53 0.9 0.89 0.8302 0.8341 0.6699 0.4779 0.8769 0.8813 0.8576 0.8971 0.86 0.83 0.87 0.79 0.91 rs162120 COSM4417640 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8219 0.8337 0.6809 0.8851 0.4867 0.8735 0.8778 0.8343 0.8952 0.8357 0.8333 0.7041 0.8775 0.4635 0.8800 0.8718 0.8605 hom 1921.14 62 19 52869312 . T C 1921.14 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5810;MQ=59.70;MQ0=0;QD=30.99;VQSLOD=9.0613;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1954,159,0 19 52869534 52869534 G A exonic ZNF610 synonymous SNV ZNF610:NM_001161427:exon5:c.G774A:p.S258S,ZNF610:NM_001161425:exon6:c.G903A:p.S301S,ZNF610:NM_001161426:exon6:c.G903A:p.S301S,ZNF610:NM_173530:exon6:c.G903A:p.S301S 0.8 0.83 0.79 0.62 0.9 0.88 0.8381 0.8293 0.7196 0.5766 0.8725 0.8789 0.8554 0.8833 0.86 0.83 0.87 0.77 0.92 rs162119 COSM148719 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8308 0.8262 0.7269 0.8676 0.5780 0.8674 0.8764 0.8416 0.8821 0.8414 0.8307 0.7339 0.8609 0.5645 0.8775 0.8730 0.8656 hom 2387.74 77 19 52869534 . G A 2387.74 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;QD=31.01;VQSLOD=8.8954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:77:99:2421,187,0 19 52887437 52887437 A C exonic ZNF880 nonsynonymous SNV ZNF880:NM_001145434:exon4:c.A604C:p.N202H 0.38 0.24 0.38 0.35 0.42 0.56 0.4469 0.3165 0.4412 0.3741 0.4260 0.4475 0.4139 0.5598 0.35 0.28 0.38 0.37 . rs8104812 COSM4132362 1(haematopoietic_and_lymphoid_tissue);1(thyroid);4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -3.58 0.000 N 2.64 0.128 T 6.32 0.000 N 0.016 0.003 -0.949 0.411 T 0.000 0.000 T . . . -2.590 0.003 0.001 0.062 0.000 0.000 0.002 N c -1.865 -1.777 0.000 0.065 0.706 0.609 0 0.682 0.171 0.458 0.214 -0.179 0.104 0.001 0.137 0.002 0.062 5.350 0.152 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000269834.1|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000269834.1|ENSG00000221923.4|ENSG00000269834.1|ENSG00000269834.1|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000221923.4|ENSG00000269834.1|ENSG00000221923.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Stomach|Thyroid|Thyroid 0.3973 0.2710 0.3738 0.4257 0.3279 0.3826 0.3949 0.4133 0.5289 0.3476 0.2784 0.3333 0.4223 0.3229 0.3902 0.3766 0.3975 het 394.21 31 19 52887437 . A C 394.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.838;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=0.534;QD=12.72;ReadPosRankSum=-0.968;VQSLOD=6.2329;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:424,0,479 19 52937339 52937339 G A exonic ZNF534 synonymous SNV ZNF534:NM_001143939:exon3:c.G147A:p.E49E 0.25 0.12 0.26 0.48 0.13 0.31 0.1846 0.1260 0.3675 0.4848 0.1076 0.1093 0.1996 0.2686 0.12 0.13 0.11 0.22 . rs17780173 COSM4000869;COSM4000868 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1902 0.1224 0.3548 0.1365 0.4887 0.1103 0.1055 0.1789 0.2620 0.1313 0.1157 0.2971 0.1457 0.4740 0.0968 0.0999 0.1612 het 1170.41 142 19 52937339 . G A 1170.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.667;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6120;MQ=59.71;MQ0=0;MQRankSum=0.891;QD=8.24;ReadPosRankSum=-0.342;VQSLOD=6.1580;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:96,46:142:99:1200,0,2727 19 52938361 52938361 C A exonic ZNF534 nonsynonymous SNV ZNF534:NM_001351679:exon3:c.C86A:p.T29N,ZNF534:NM_001143938:exon4:c.C170A:p.T57N,ZNF534:NM_001143939:exon4:c.C209A:p.T70N,ZNF534:NM_001291368:exon4:c.C170A:p.T57N 0.82 0.8 0.9 0.66 0.96 0.82 0.9125 0.8359 0.9121 0.6702 0.9477 0.9635 0.9119 0.8675 0.93 0.85 0.96 0.77 . rs11084161 COSM4000870;COSM4000871 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.304 0.143 T 0.902 0.478 P 0.148 0.324 B . . . 1 0.090 P 0.21 0.095 N 5.66 0.074 T -1.1 0.285 N 0.035 0.015 -0.972 0.367 T 0.000 0.000 T . . . -0.921 0.035 0.023 0.423 0.031 0.006 0.027 N c -1.321 -1.456 0.000 0.012 0.638 0.428 0 -2.36 0.062 1.243 0.322 -0.554 0.047 0.038 0.207 0.018 0.130 4.777 0.125 Krueppel-associated box ENSG00000258405.5|ENSG00000258405.5|ENSG00000258405.5 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Thyroid 0.9144 0.8371 0.9111 0.9506 0.6773 0.9456 0.9646 0.9325 0.8695 0.9049 0.8362 0.9272 0.9371 0.6753 0.9450 0.9560 0.9389 hom 3270.82 107 19 52938361 . C A 3270.82 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=30.57;VQSLOD=8.7438;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3270,268,0 19 52941171 52941171 T C exonic ZNF534 nonsynonymous SNV ZNF534:NM_001351679:exon4:c.T374C:p.F125S,ZNF534:NM_001143938:exon5:c.T458C:p.F153S,ZNF534:NM_001143939:exon5:c.T497C:p.F166S 0.83 0.82 0.9 0.66 0.96 0.82 0.9162 0.8291 0.9173 0.6714 0.9480 0.9684 0.9291 0.8712 0.93 0.84 0.97 0.83 . rs1428180 COSM4000877 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.531 0.070 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -2.785 0.000 N 3.44 0.057 T 2.6 0.002 N 0.023 0.006 -0.977 0.358 T 0.000 0.000 T . . . -1.011 0.032 0.015 0.361 0.023 0.001 0.005 N c -1.931 -1.893 0.000 0.012 0.487 0.133 0 -1.48 0.082 -3.073 0.007 -0.272 0.086 0.000 0.063 0.001 0.043 3.455 0.070 . ENSG00000198633.6|ENSG00000258405.5 Adipose_Subcutaneous|Adipose_Subcutaneous 0.9176 0.8299 0.9154 0.9764 0.6773 0.9457 0.9683 0.9382 0.8721 0.9055 0.8323 0.9330 0.9603 0.6737 0.9450 0.9587 0.9430 hom 2132.92 68 19 52941171 . T C 2132.92 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;QD=31.37;VQSLOD=9.0395;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2166,166,0 19 52941540 52941540 G A exonic ZNF534 nonsynonymous SNV ZNF534:NM_001351679:exon4:c.G743A:p.G248E,ZNF534:NM_001143938:exon5:c.G827A:p.G276E,ZNF534:NM_001143939:exon5:c.G866A:p.G289E 0.83 0.82 0.9 0.66 0.96 0.82 0.9160 0.8301 0.9171 0.6697 0.9479 0.9684 0.9281 0.8706 0.93 0.84 0.97 0.83 . rs1366257 COSM4000878 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.088 0.323 T 0.382 0.326 B 0.035 0.214 B . . . 1.000 0.588 P 2.35 0.677 M 2.01 0.213 T -4.91 0.824 D 0.028 0.009 -1.024 0.223 T 0.000 0.000 T . . . 1.302 0.221 12.28 0.560 0.053 0.056 0.113 N c -1.115 -1.267 0.000 0.012 0.487 0.133 0 0.706 0.172 1.078 0.302 -1.205 0.016 0.891 0.310 0.000 0.016 8.303 0.310 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000198633.6|ENSG00000258405.5 Adipose_Subcutaneous|Adipose_Subcutaneous 0.9176 0.8303 0.9153 0.9763 0.6771 0.9457 0.9682 0.9383 0.8721 0.9054 0.8320 0.9330 0.9603 0.6741 0.9450 0.9586 0.9429 hom 1823.48 56 19 52941540 . G A 1823.48 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=32.56;VQSLOD=9.6275;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1856,144,0 19 52941618 52941618 A C exonic ZNF534 nonsynonymous SNV ZNF534:NM_001351679:exon4:c.A821C:p.E274A,ZNF534:NM_001143938:exon5:c.A905C:p.E302A,ZNF534:NM_001143939:exon5:c.A944C:p.E315A 0.83 0.82 0.9 0.66 0.96 0.82 0.9160 0.8295 0.9175 0.6710 0.9478 0.9684 0.9278 0.8706 0.93 0.84 0.97 0.83 . rs1366258 COSM3933158 2(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 0.014 0.531 D 0.004 0.441 B 0.007 0.487 B . . . 1 0.090 P 1.89 0.503 L 3.24 0.069 T -4.79 0.827 D 0.029 0.143 -1.011 0.265 T 0.000 0.000 T . . . 2.706 0.386 20.8 0.971 0.317 0.030 0.078 N c -0.877 -1.091 0.000 0.012 0.487 0.133 0 -1.33 0.086 0.002 0.129 0.651 0.292 0.000 0.063 0.014 0.122 3.989 0.090 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000198633.6|ENSG00000258405.5 Adipose_Subcutaneous|Adipose_Subcutaneous 0.9177 0.8303 0.9155 0.9762 0.6777 0.9458 0.9681 0.9383 0.8721 0.9051 0.8321 0.9318 0.9603 0.6725 0.9450 0.9582 0.9429 hom 1877.06 58 19 52941618 . A C 1877.06 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.60;MQ0=0;QD=32.36;VQSLOD=9.4933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1910,144,0 19 53014346 53014346 G A exonic ZNF578 nonsynonymous SNV ZNF578:NM_001099694:exon6:c.G712A:p.E238K 0.77 0.98 0.8 0.66 0.64 0.68 0.6781 0.9358 0.8381 0.6165 0.6686 0.6218 0.6689 0.6696 0.72 0.93 0.62 0.79 . rs161931 COSM3733764 1(haematopoietic_and_lymphoid_tissue);3(pancreas) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -2.175 0.001 N 2.02 0.211 T . . . 0.063 0.048 -1.028 0.212 T 0.000 0.000 T . . . -0.171 0.078 1.262 0.079 0.001 0.000 0.003 N c -1.676 -1.629 0.000 0.029 0.487 0.133 0 1.48 0.218 0.113 0.152 -0.454 0.056 0.000 0.063 0.000 0.016 5.584 0.164 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2;Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000198482.6 Nerve_Tibial 0.6815 0.9410 0.8341 0.6649 0.6178 0.6618 0.6180 0.6723 0.6731 0.7237 0.9344 0.8150 0.6887 0.5945 0.6673 0.6277 0.6602 het 2680.84 158 19 53014346 . G A 2680.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.437;DP=158;Dels=0.00;FS=0.612;HRun=2;HaplotypeScore=6.9796;MQ=58.27;MQ0=0;MQRankSum=2.090;QD=16.97;ReadPosRankSum=1.636;VQSLOD=2.7944;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:58,100:158:99:2711,0,1431 19 53015384 53015384 A G exonic ZNF578 nonsynonymous SNV ZNF578:NM_001099694:exon6:c.A1750G:p.I584V 0.34 0.26 0.4 0.52 0.24 0.32 0.2905 0.2502 0.4553 0.4845 0.2902 0.2377 0.2894 0.3117 0.24 0.24 0.23 0.32 . rs4802965 COSM3757137 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.54 0.025 N 3.35 0.060 T . . . 0.005 0.000 -0.902 0.478 T 0.000 0.000 T . . . -3.167 0.001 0.001 0.200 0.007 0.002 0.013 N c -1.888 -1.995 0.000 0.042 0.554 0.246 0 -2.97 0.052 -7.987 0.000 -1.244 0.015 0.000 0.063 0.000 0.016 1.687 0.026 . ENSG00000198482.6 Nerve_Tibial 0.2988 0.2468 0.4502 0.2940 0.4878 0.2913 0.2295 0.2919 0.3127 0.2630 0.2424 0.4065 0.3154 0.4813 0.2826 0.2359 0.2888 het 2059.56 163 19 53015384 . A G 2059.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.298;DP=163;Dels=0.00;FS=4.660;HRun=0;HaplotypeScore=5.3095;MQ=59.54;MQ0=0;MQRankSum=0.245;QD=12.64;ReadPosRankSum=-0.474;VQSLOD=4.7228;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,75:163:99:2090,0,2503 19 53057479 53057479 G A exonic ZNF808 nonsynonymous SNV ZNF808:NM_001321425:exon4:c.G1310A:p.S437N,ZNF808:NM_001039886:exon5:c.G1310A:p.S437N,ZNF808:NM_001321424:exon5:c.G1310A:p.S437N 0.069 0.16 0.065 0.0079 0.071 0.018 0.0658 0.1339 0.0460 0.0072 0.0841 0.0749 0.0774 0.0249 0.086 0.12 0.069 0.076 . rs61746334 COSM3757139 1(large_intestine) . . . . . . . . . . . 0.446 0.091 T 0.0 0.026 B 0.003 0.080 B . . . 1 0.090 P 1.345 0.336 L 2.15 0.193 T -1.24 0.314 N 0.001 0.000 -1.003 0.290 T 0.000 0.001 T . . . -2.125 0.006 0.001 0.231 0.010 0.000 0.004 N c -2.550 -2.709 0.958 0.283 0.707 0.730 0 -2.81 0.054 -9.860 0.000 -2.668 0.002 0.000 0.063 0.000 0.016 1.106 0.016 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000198482.6|ENSG00000198482.6|ENSG00000198482.6|ENSG00000198482.6|ENSG00000198482.6 Brain_Hypothalamus|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.0652 0.1329 0.0504 0.1285 0.0082 0.0866 0.0698 0.0790 0.0248 0.0861 0.1405 0.0600 0.1159 0.0086 0.0859 0.0648 0.0703 het 1246.97 94 19 53057479 . G A 1246.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.014;DP=94;Dels=0.00;FS=5.252;HRun=1;HaplotypeScore=0.9967;MQ=59.29;MQ0=0;MQRankSum=0.813;QD=13.27;ReadPosRankSum=-0.632;VQSLOD=5.2499;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,48:94:99:1277,0,1338 19 53077411 53077411 T C exonic ZNF701 nonsynonymous SNV ZNF701:NM_018260:exon2:c.T11C:p.L4P,ZNF701:NM_001172655:exon3:c.T209C:p.L70P 0.71 0.94 0.68 0.43 0.72 0.72 0.7184 0.9116 0.6342 0.4324 0.7040 0.7369 0.7208 0.7355 0.79 0.91 0.73 0.75 0.68 rs162832 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.186 P 0.94 0.237 L 5.65 0.008 T 4.84 0.000 N 0.105 0.111 -1.079 0.076 T 0.000 0.000 T . . . -1.670 0.013 0.002 0.794 0.123 0.000 0.002 N c -1.534 -1.584 0.000 0.065 0.563 0.310 0 -2.36 0.062 0.023 0.133 -0.197 0.102 0.052 0.213 0.021 0.135 3.463 0.071 Krueppel-associated box ENSG00000167562.7|ENSG00000167562.7|ENSG00000167562.7 Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic 0.7077 0.9114 0.6287 0.7126 0.4321 0.7037 0.7393 0.7114 0.7327 0.7620 0.9092 0.6675 0.6733 0.4213 0.7115 0.7352 0.7076 hom 7531.34 246 19 53077411 . T C 7531.34 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.67;MQ0=2;QD=30.62;VQSLOD=7.2636;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7531,572,0 19 53085659 53085659 C T exonic ZNF701 nonsynonymous SNV ZNF701:NM_018260:exon4:c.C347T:p.T116I,ZNF701:NM_001172655:exon5:c.C545T:p.T182I 0.64 0.67 0.62 0.5 0.71 0.71 0.6967 0.6687 0.6147 0.4959 0.7043 0.7328 0.7064 0.7272 0.71 0.67 0.73 0.65 0.65 rs366793 COSM5941425;COSM5941424 1(skin) . . . . . . . . . . . 0.224 0.187 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.255 0.008 N 3.48 0.315 T 3.6 0.001 N 0.014 0.034 -1.079 0.074 T 0.000 0.000 T . . . -0.489 0.056 0.234 0.109 0.002 0.002 0.013 N c -1.646 -1.663 0.003 0.100 0.563 0.310 0 -1.3 0.087 -0.190 0.095 -0.235 0.093 0.000 0.063 0.001 0.043 3.692 0.078 Krueppel-associated box ENSG00000167562.7|ENSG00000167562.7|ENSG00000167562.7|ENSG00000167562.7|ENSG00000167562.7|ENSG00000268886.1 Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.6905 0.6670 0.6110 0.6882 0.4972 0.7014 0.7359 0.6915 0.7257 0.6937 0.6667 0.6432 0.6556 0.5 0.7113 0.7296 0.6961 hom 6389.91 194 19 53085659 . C T 6389.91 Mask AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5494;MQ=59.57;MQ0=0;QD=32.94;VQSLOD=8.2175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:6389,527,0 19 53085813 53085813 T C exonic ZNF701 synonymous SNV ZNF701:NM_018260:exon4:c.T501C:p.A167A,ZNF701:NM_001172655:exon5:c.T699C:p.A233A 0.29 0.052 0.28 0.37 0.36 0.46 0.3538 0.0899 0.2400 0.3751 0.3123 0.3943 0.3664 0.4392 0.29 0.092 0.39 0.27 0.38 rs3745101 COSM3757140;COSM3757141 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3507 0.0831 0.2421 0.4138 0.3746 0.3138 0.3946 0.3621 0.4341 0.2903 0.0902 0.2745 0.4238 0.3854 0.3042 0.3877 0.3490 het 1965.70 151 19 53085813 . T C 1965.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.272;DP=151;DS;Dels=0.00;FS=4.627;HRun=1;HaplotypeScore=12.3483;MQ=59.51;MQ0=0;MQRankSum=-0.054;QD=13.02;ReadPosRankSum=0.361;VQSLOD=3.6732;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,73:151:99:1996,0,2066 19 53086124 53086124 C A exonic ZNF701 nonsynonymous SNV ZNF701:NM_018260:exon4:c.C812A:p.T271K,ZNF701:NM_001172655:exon5:c.C1010A:p.T337K 0.64 0.67 0.62 0.5 0.71 0.71 0.6970 0.6690 0.6154 0.4973 0.7047 0.7331 0.7048 0.7268 0.71 0.67 0.73 0.65 0.66 rs373554 COSM3757143;COSM3757142 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.74 0.003 N 2.33 0.165 T 4.95 0.000 N 0.027 0.058 -0.993 0.317 T 0.000 0.000 T . . . -0.659 0.047 0.090 0.146 0.003 0.002 0.012 N c -2.131 -2.094 0.000 0.044 0.563 0.310 0 -0.451 0.116 -0.842 0.044 -0.136 0.110 0.000 0.063 0.429 0.259 5.814 0.176 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000167562.7|ENSG00000167562.7|ENSG00000167562.7|ENSG00000167562.7|ENSG00000167562.7|ENSG00000268886.1|ENSG00000167562.7 Adipose_Visceral_Omentum|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen 0.6907 0.6670 0.6111 0.6873 0.4973 0.7017 0.7361 0.6922 0.7254 0.6938 0.6675 0.6432 0.6556 0.4994 0.7112 0.7294 0.6969 hom 6598.83 200 19 53086124 . C A 6598.83 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7480;MQ=58.02;MQ0=0;QD=32.99;VQSLOD=8.1871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6598,512,0 19 53117531 53117531 C T exonic ZNF83 nonsynonymous SNV ZNF83:NM_001277951:exon3:c.G287A:p.S96N,ZNF83:NM_018300:exon3:c.G287A:p.S96N,ZNF83:NM_001105552:exon4:c.G287A:p.S96N,ZNF83:NM_001277946:exon4:c.G287A:p.S96N,ZNF83:NM_001348016:exon4:c.G287A:p.S96N,ZNF83:NM_001105550:exon5:c.G287A:p.S96N,ZNF83:NM_001105551:exon5:c.G287A:p.S96N,ZNF83:NM_001277948:exon5:c.G287A:p.S96N,ZNF83:NM_001277949:exon5:c.G287A:p.S96N,ZNF83:NM_001277952:exon5:c.G287A:p.S96N,ZNF83:NM_001105549:exon6:c.G287A:p.S96N,ZNF83:NM_001277945:exon6:c.G287A:p.S96N,ZNF83:NM_001277947:exon6:c.G287A:p.S96N,ZNF83:NM_001348018:exon6:c.G287A:p.S96N,ZNF83:NM_001348015:exon7:c.G287A:p.S96N,ZNF83:NM_001348017:exon7:c.G287A:p.S96N,ZNF83:NM_001348019:exon7:c.G287A:p.S96N 0.71 0.89 0.74 0.71 0.64 0.54 0.6396 0.8269 0.7818 0.7131 0.6652 0.6048 0.6280 0.5141 0.67 0.81 0.59 0.73 0.67 rs1056185 COSM5427130 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.67 0.020 N 1.61 0.284 T 3.46 0.001 N 0.014 0.002 -0.980 0.349 T 0.000 0.000 T . . . -2.115 0.007 0.001 0.139 0.003 0.006 0.028 N c -1.928 -1.981 0.000 0.070 0.707 0.730 0 -2.41 0.061 -1.366 0.027 -0.024 0.128 0.000 0.063 0.001 0.043 7.568 0.269 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000167766.14|ENSG00000167766.14|ENSG00000167766.14 Artery_Aorta|Brain_Cerebellum|Nerve_Tibial 0.6439 0.8277 0.7778 0.6039 0.7165 0.6538 0.6037 0.6489 0.5158 0.6870 0.8171 0.7399 0.6324 0.7049 0.6463 0.6189 0.6571 hom 4079.17 130 19 53117531 . C T 4079.17 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.38;VQSLOD=13.5928;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4079,316,0 19 53117809 53117809 C A exonic ZNF83 synonymous SNV ZNF83:NM_001277951:exon3:c.G9T:p.G3G,ZNF83:NM_018300:exon3:c.G9T:p.G3G,ZNF83:NM_001105552:exon4:c.G9T:p.G3G,ZNF83:NM_001277946:exon4:c.G9T:p.G3G,ZNF83:NM_001348016:exon4:c.G9T:p.G3G,ZNF83:NM_001105550:exon5:c.G9T:p.G3G,ZNF83:NM_001105551:exon5:c.G9T:p.G3G,ZNF83:NM_001277948:exon5:c.G9T:p.G3G,ZNF83:NM_001277949:exon5:c.G9T:p.G3G,ZNF83:NM_001277952:exon5:c.G9T:p.G3G,ZNF83:NM_001105549:exon6:c.G9T:p.G3G,ZNF83:NM_001277945:exon6:c.G9T:p.G3G,ZNF83:NM_001277947:exon6:c.G9T:p.G3G,ZNF83:NM_001348018:exon6:c.G9T:p.G3G,ZNF83:NM_001348015:exon7:c.G9T:p.G3G,ZNF83:NM_001348017:exon7:c.G9T:p.G3G,ZNF83:NM_001348019:exon7:c.G9T:p.G3G 0.71 0.89 0.74 0.7 0.64 0.54 0.6460 0.8319 0.7820 0.7112 0.6642 0.6068 0.6318 0.5372 0.67 0.81 0.59 0.73 0.62 rs10406458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6460 0.8320 0.7784 0.6072 0.7147 0.6543 0.6037 0.6489 0.5178 0.6881 0.8216 0.7399 0.6324 0.7027 0.6459 0.6189 0.6578 hom 1837.88 64 19 53117809 . C A 1837.88 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.02;FS=0.000;HRun=0;HaplotypeScore=2.9531;MQ=58.08;MQ0=0;QD=28.28;VQSLOD=7.2452;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:1871,150,0 19 53209553 53209553 G A exonic ZNF611 nonsynonymous SNV ZNF611:NM_001161500:exon5:c.C755T:p.P252L,ZNF611:NM_001161501:exon5:c.C548T:p.P183L,ZNF611:NM_001161499:exon6:c.C755T:p.P252L,ZNF611:NM_030972:exon7:c.C755T:p.P252L 0.44 0.7 0.33 0.37 0.41 0.26 0.4038 0.6773 0.2861 0.4154 0.3808 0.4103 0.3789 0.2921 0.47 0.65 0.37 . 0.35 rs4085566 COSM148721 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);2(prostate);2(large_intestine) . . . . . . . . . . . 0.016 0.531 D 0.0 0.026 B 0.002 0.063 B . . . 1 0.090 P -1.32 0.007 N 2.57 0.136 T 2.5 0.002 N 0.018 0.026 -1.014 0.258 T 0.000 0.000 T . . . 1.227 0.213 11.89 0.769 0.113 0.003 0.017 N c -1.600 -1.622 0.000 0.041 0.563 0.310 0 1.2 0.201 -1.983 0.016 -1.421 0.011 0.000 0.063 0.000 0.016 2.378 0.040 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000213020.4 Muscle_Skeletal 0.3942 0.6849 0.3002 0.4354 0.4068 0.3909 0.4059 0.3866 0.2929 0.4805 0.6844 0.3174 0.4367 0.3747 0.4091 0.4035 0.4283 hom 7496.61 244 19 53209553 . G A 7496.61 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4648;MQ=50.90;MQ0=5;QD=30.72;VQSLOD=3.1448;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:5,239:244:99:7495,614,0 19 53209554 53209554 G T exonic ZNF611 nonsynonymous SNV ZNF611:NM_001161500:exon5:c.C754A:p.P252T,ZNF611:NM_001161501:exon5:c.C547A:p.P183T,ZNF611:NM_001161499:exon6:c.C754A:p.P252T,ZNF611:NM_030972:exon7:c.C754A:p.P252T 0.44 0.7 0.33 0.37 0.41 0.26 0.4038 0.6773 0.2860 0.4154 0.3807 0.4104 0.3789 0.2921 0.47 0.65 0.37 . 0.35 rs4085565 COSM3757148 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.182 0.219 T 0.0 0.026 B 0.002 0.063 B . . . 1 0.090 P -2.345 0.001 N 2.64 0.128 T 1.95 0.004 N 0.026 0.043 -1.034 0.190 T 0.000 0.000 T . . . -0.470 0.057 0.260 0.268 0.013 0.002 0.009 N c -1.667 -1.662 0.000 0.041 0.563 0.310 0 1.2 0.201 0.186 0.167 -0.130 0.111 0.000 0.063 0.001 0.043 6.354 0.205 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 ENSG00000213020.4 Muscle_Skeletal 0.3942 0.6849 0.3002 0.4355 0.4068 0.3909 0.4059 0.3868 0.2929 0.4807 0.6852 0.3174 0.4367 0.3759 0.4089 0.4036 0.4283 hom 7557.93 242 19 53209554 . G T 7557.93 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5981;MQ=51.00;MQ0=5;QD=31.23;VQSLOD=3.2492;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:5,237:242:99:7557,611,0 19 53303527 53303527 A G exonic ZNF28 nonsynonymous SNV ZNF28:NM_006969:exon4:c.T1571C:p.M524T 0.88 0.91 0.74 0.91 0.93 0.86 0.8716 0.8820 0.6748 0.9197 0.8665 0.8991 0.8888 0.8681 0.9 0.88 0.9 0.88 0.85 rs8107444 . . . . . . . . . . . . . 0.041 0.469 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.035 0.050 N 2.4 0.389 T 0.56 0.040 N 0.011 0.012 -1.014 0.257 T 0.000 0.000 T . . . -0.319 0.067 0.600 0.375 0.025 0.006 0.027 N c -2.227 -2.258 0.001 0.082 0.651 0.465 0 -2.11 0.068 -5.425 0.001 -3.749 0.001 0.000 0.063 0.000 0.016 0.900 0.012 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000189190.7|ENSG00000189190.7|ENSG00000189190.7|ENSG00000189190.7|ENSG00000189190.7|ENSG00000189190.7|ENSG00000241015.2|ENSG00000189190.7|ENSG00000189190.7|ENSG00000189190.7 Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8651 0.8802 0.6856 0.9071 0.9221 0.8731 0.9021 0.8808 0.8654 0.8869 0.8876 0.7476 0.8767 0.9056 0.8708 0.8969 0.8773 hom 6587.84 217 19 53303527 . A G 6587.84 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.189;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8051;MQ=59.38;MQ0=0;MQRankSum=1.700;QD=30.36;ReadPosRankSum=1.668;VQSLOD=6.3871;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,216:217:99:6586,557,0 19 53384185 53384185 C T exonic ZNF320 synonymous SNV ZNF320:NM_207333:exon4:c.G1194A:p.A398A 0.59 0.69 0.47 0.36 0.71 0.63 0.6306 0.6737 0.3700 0.3805 0.7133 0.6919 0.6399 0.6356 0.68 0.67 0.69 0.6 0.7 rs6509701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6205 0.68 0.3874 0.6774 0.3762 0.7072 0.6939 0.6372 0.6324 0.6578 0.6731 0.4487 0.6722 0.3682 0.7120 0.6795 0.6455 hom 5428.88 169 19 53384185 . C T 5428.88 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;QD=32.12;VQSLOD=9.9481;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,168:169:99:5428,439,0 19 53577419 53577419 G C exonic ZNF160 nonsynonymous SNV ZNF160:NM_001322136:exon4:c.C245G:p.P82R,ZNF160:NM_001322125:exon5:c.C245G:p.P82R,ZNF160:NM_001322129:exon5:c.C245G:p.P82R,ZNF160:NM_001322131:exon5:c.C245G:p.P82R,ZNF160:NM_001322135:exon5:c.C245G:p.P82R,ZNF160:NM_033288:exon5:c.C245G:p.P82R,ZNF160:NM_001102603:exon6:c.C245G:p.P82R,ZNF160:NM_001322126:exon6:c.C245G:p.P82R,ZNF160:NM_001322128:exon6:c.C245G:p.P82R,ZNF160:NM_001322130:exon6:c.C245G:p.P82R,ZNF160:NM_001322132:exon6:c.C245G:p.P82R,ZNF160:NM_001322133:exon6:c.C245G:p.P82R,ZNF160:NM_001322134:exon6:c.C245G:p.P82R,ZNF160:NM_001322138:exon6:c.C137G:p.P46R,ZNF160:NM_198893:exon6:c.C245G:p.P82R,ZNF160:NM_001322137:exon7:c.C137G:p.P46R,ZNF160:NM_001322139:exon8:c.C137G:p.P46R 0.76 0.93 0.78 0.6 0.81 0.63 0.7525 0.9058 0.7167 0.5703 0.8393 0.7753 0.7687 0.6485 0.82 0.9 0.78 0.77 0.84 rs8105668 COSM4132394 1(thyroid) . . . . . . . . . . . 0.797 0.055 T 0.0 0.119 B 0.001 0.040 B . . . 1 0.090 P -1.07 0.010 N 3.28 0.070 T 0.69 0.022 N 0.032 0.012 -1.090 0.056 T 0.000 0.000 T . . . -0.861 0.038 0.031 0.043 0.000 0.000 0.002 N c -1.723 -1.732 0.002 0.094 0.707 0.730 0 -0.839 0.102 -1.139 0.033 -1.348 0.013 0.000 0.063 0.000 0.016 4.235 0.100 . . . 0.7515 0.9043 0.7287 0.7601 0.5754 0.8400 0.7751 0.7521 0.6470 0.8019 0.9042 0.7697 0.7748 0.5801 0.8424 0.7615 0.7654 hom 6599.60 231 19 53577419 . G C 6599.60 Mask AC=2;AF=1.00;AN=2;DP=231;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.4116;MQ=59.06;MQ0=0;QD=28.57;VQSLOD=8.2147;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,231:231:99:6598,539,0 19 53645291 53645291 T C exonic ZNF347 nonsynonymous SNV ZNF347:NM_001172674:exon5:c.A793G:p.N265D,ZNF347:NM_001172675:exon5:c.A793G:p.N265D,ZNF347:NM_032584:exon5:c.A790G:p.N264D 0.63 0.39 0.72 0.75 0.65 0.76 0.6997 0.4391 0.8186 0.7609 0.7166 0.6917 0.6810 0.7738 0.6 0.45 0.68 0.51 0.72 rs2195310 COSM3757161 1(large_intestine) . . . . . . . . . . . 0.354 0.121 T 0.074 0.261 B 0.034 0.229 B . . . 1 0.090 P -0.025 0.050 N 1.67 0.273 T -1.17 0.299 N 0.012 0.002 -1.033 0.193 T 0.000 0.000 T . . . -0.357 0.064 0.491 0.729 0.098 0.010 0.039 N c -1.115 -1.198 0.000 0.012 0.563 0.310 0 -0.009 0.133 0.019 0.132 -0.222 0.097 0.000 0.063 0.113 0.194 1.120 0.016 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000269001.1|ENSG00000197497.6 Adipose_Subcutaneous|Thyroid 0.7053 0.4398 0.8079 0.6454 0.7554 0.7226 0.6873 0.6753 0.7742 0.6377 0.4552 0.7494 0.6623 0.7386 0.7176 0.7032 0.7039 hom 5608.22 178 19 53645291 . T C 5608.22 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.74;MQ0=0;QD=31.51;VQSLOD=9.2312;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5608,427,0 19 53669273 53669273 T C exonic ZNF665 nonsynonymous SNV ZNF665:NM_024733:exon4:c.A470G:p.H157R 0.93 0.91 0.96 0.88 0.96 0.97 0.9618 0.9253 0.9799 0.9076 0.9858 0.9659 0.9658 0.9731 0.95 0.92 0.97 0.91 . rs4801959 . . . . . . . . . . . . . 0.248 0.172 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.615 0.022 N 3.23 0.070 T -0.11 0.087 N 0.011 0.002 -1.038 0.178 T 0.000 0.000 T . . . -2.014 0.008 0.001 0.402 0.028 0.000 0.003 N c -2.019 -2.107 0.014 0.125 0.615 0.372 0 -4.79 0.029 -2.204 0.013 -2.524 0.003 0.000 0.063 0.000 0.016 3.920 0.087 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9625 0.9207 0.9738 0.9684 0.9047 0.9868 0.9656 0.9635 0.9729 0.9523 0.9148 0.9654 0.9901 0.8955 0.9868 0.9694 0.9735 hom 7301.40 220 19 53669273 . T C 7301.40 Mask AC=2;AF=1.00;AN=2;DP=220;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6550;MQ=59.26;MQ0=0;QD=33.19;VQSLOD=9.8141;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,219:220:99:7262,593,0 19 53793042 53793042 G A exonic BIRC8 nonsynonymous SNV BIRC8:NM_033341:exon1:c.C586T:p.H196Y 0.56 0.71 0.56 0.51 0.5 0.49 0.5600 0.6859 0.6102 0.5030 0.4949 0.5501 0.5540 0.5415 0.6 0.68 0.55 0.53 0.41 rs8109165 COSM4000895 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.037 0.430 D 0.027 0.182 B 0.01 0.139 B . . . 1 0.090 P 0.65 0.162 N -1.18 0.783 T -1.13 0.291 N 0.043 0.023 -0.949 0.411 T 0.000 0.000 T . . . 0.228 0.116 4.968 0.806 0.128 0.004 0.021 N c -1.403 -1.524 0.000 0.012 0.487 0.133 0 -1.0 0.096 -0.204 0.093 -0.600 0.044 0.007 0.175 0.267 0.231 5.224 0.146 Zinc finger\x2c RING-type ENSG00000163098.3 Testis 0.5560 0.6827 0.6138 0.4601 0.5039 0.4927 0.5545 0.5398 0.5442 0.5830 0.6813 0.5728 0.4603 0.5006 0.5069 0.5600 0.5123 hom 2669.96 78 19 53793042 . G A 2669.96 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3945;MQ=59.70;MQ0=0;QD=34.23;VQSLOD=9.2414;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:78:99:2703,226,0 19 53793574 53793574 A G exonic BIRC8 synonymous SNV BIRC8:NM_033341:exon1:c.T54C:p.V18V 0.6 0.84 0.59 0.51 0.51 0.49 0.5758 0.8040 0.6194 0.5067 0.4994 0.5576 0.5640 0.5423 0.64 0.8 0.56 0.58 0.54 rs2865248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5694 0.8055 0.6228 0.4632 0.5074 0.4968 0.5620 0.5497 0.5453 0.6213 0.8003 0.5811 0.4567 0.5112 0.5109 0.5665 0.5255 hom 2809.16 90 19 53793574 . A G 2809.16 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=59.38;MQ0=0;QD=31.21;VQSLOD=9.2910;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2842,220,0 19 53911510 53911510 G A exonic ZNF765 synonymous SNV ZNF765:NM_001350495:exon3:c.G543A:p.Q181Q,ZNF765:NM_001040185:exon4:c.G702A:p.Q234Q 0.23 0.052 0.38 0.1 0.32 0.39 0.3158 0.0860 0.4492 0.1050 0.3636 0.3358 0.3341 0.3723 0.25 0.096 0.33 0.18 . rs8182488 COSM3757169 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3216 0.0815 0.4418 0.2176 0.1005 0.3717 0.3388 0.3074 0.3710 0.2693 0.0905 0.3842 0.2649 0.0959 0.3634 0.3579 0.3622 het 1888.51 131 19 53911510 . G A 1888.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.703;DP=131;Dels=0.00;FS=2.439;HRun=1;HaplotypeScore=1.8824;MQ=59.86;MQ0=0;MQRankSum=-2.664;QD=14.42;ReadPosRankSum=0.781;VQSLOD=4.7391;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,68:131:99:1918,0,1908 19 53911973 53911973 A G exonic ZNF765 nonsynonymous SNV ZNF765:NM_001350495:exon3:c.A1006G:p.S336G,ZNF765:NM_001040185:exon4:c.A1165G:p.S389G 0.77 0.73 0.86 0.67 0.86 0.78 0.8268 0.7361 0.9008 0.6592 0.8638 0.8580 0.8304 0.7773 0.83 0.75 0.86 0.79 . rs10425136 COSM5427206 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B . . . 1.000 0.198 P -1.57 0.005 N 4.51 0.020 T 2.8 0.002 N 0.025 0.007 -1.109 0.031 T 0.000 0.000 T . . . -0.643 0.048 0.098 0.638 0.071 0.002 0.011 N c -1.492 -1.510 0.014 0.126 0.563 0.310 0 1.28 0.206 0.353 0.197 -0.473 0.054 0.287 0.250 0.025 0.141 6.661 0.221 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.8341 0.7428 0.9014 0.7874 0.6502 0.8666 0.8674 0.8435 0.7777 0.8250 0.7475 0.8935 0.8146 0.6391 0.8681 0.8741 0.8592 hom 8725.76 250 19 53911973 . A G 8725.76 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7431;MQ=59.11;MQ0=0;QD=34.90;VQSLOD=8.2891;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8725,680,0 19 53958126 53958126 T G exonic ZNF761;ZNF765-ZNF761 nonsynonymous SNV ZNF761:NM_001289951:exon6:c.T365G:p.I122S,ZNF761:NM_001289952:exon6:c.T365G:p.I122S,ZNF761:NM_001008401:exon7:c.T365G:p.I122S,ZNF765-ZNF761:NM_001350496:exon14:c.T365G:p.I122S 0.64 0.68 0.77 0.53 0.69 0.57 0.6849 0.6888 0.8129 0.5482 0.7634 0.6940 0.6810 0.5960 0.69 0.7 0.68 0.6 0.71 rs2708743 COSM1564249 2(haematopoietic_and_lymphoid_tissue);2(pancreas);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.013 0.002 . . . . . . . . . 0.041 0.097 2.987 0.396 0.027 0.000 0.003 N n -0.627 -0.247 0.001 0.075 0.295 0.044 0 -1.95 0.071 -1.215 0.031 -0.568 0.046 0.000 0.063 0.006 0.095 3.945 0.088 . . . 0.6909 0.6910 0.8041 0.7253 0.5481 0.7561 0.6882 0.7004 0.5979 0.6963 0.6934 0.7792 0.7781 0.5455 0.7510 0.6949 0.6976 hom 6201.26 188 19 53958126 . T G 6201.26 Mask AC=2;AF=1.00;AN=2;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8907;MQ=59.31;MQ0=1;QD=32.99;VQSLOD=9.7771;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,188:188:99:6201,485,0 19 53958263 53958263 G A exonic ZNF761;ZNF765-ZNF761 nonsynonymous SNV ZNF761:NM_001289951:exon6:c.G502A:p.V168I,ZNF761:NM_001289952:exon6:c.G502A:p.V168I,ZNF761:NM_001008401:exon7:c.G502A:p.V168I,ZNF765-ZNF761:NM_001350496:exon14:c.G502A:p.V168I 0.74 0.86 0.81 0.57 0.74 0.73 0.7497 0.8319 0.8446 0.5954 0.7778 0.7413 0.7324 0.7362 0.77 0.83 0.74 0.76 0.75 rs1984432 COSM4999086 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.012 0.001 . . . . . . . . . 0.049 0.098 3.071 0.330 0.019 0.002 0.011 N n -0.689 -0.248 0.000 0.029 0.295 0.044 0 0.418 0.156 -0.767 0.048 -2.534 0.002 0.000 0.063 0.000 0.016 6.002 0.186 . ENSG00000241015.2 Brain_Hypothalamus 0.7528 0.8378 0.8386 0.7850 0.5965 0.7733 0.7375 0.7559 0.7342 0.7647 0.8353 0.8282 0.8278 0.5882 0.7692 0.7380 0.7439 hom 5816.38 191 19 53958263 . G A 5816.38 Mask AC=2;AF=1.00;AN=2;DP=191;DS;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=1.8628;MQ=59.02;MQ0=1;QD=30.29;VQSLOD=8.8990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,191:191:99:5815,466,0 19 53959568 53959568 G C exonic ZNF761;ZNF765-ZNF761 nonsynonymous SNV ZNF761:NM_001289951:exon6:c.G1807C:p.E603Q,ZNF761:NM_001289952:exon6:c.G1807C:p.E603Q,ZNF761:NM_001008401:exon7:c.G1807C:p.E603Q,ZNF765-ZNF761:NM_001350496:exon14:c.G1807C:p.E603Q 0.39 0.4 0.53 0.24 0.4 0.41 0.4253 0.4066 0.6072 0.2823 0.4536 0.4169 0.4031 0.4079 0.41 0.4 0.41 0.3 0.4 rs2617726 COSM1564248 2(haematopoietic_and_lymphoid_tissue);1(pancreas);3(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.026 0.008 . . . . . . . . . 0.473 0.139 7.220 0.757 0.108 0.555 0.296 D n 0.359 0.031 0.159 0.176 0.322 0.047 0 1.13 0.197 1.040 0.297 0.443 0.277 0.868 0.305 0.003 0.074 9.155 0.360 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2 . . 0.4328 0.4099 0.5957 0.4558 0.2854 0.4481 0.4114 0.4122 0.4121 0.4154 0.4133 0.5288 0.4735 0.2880 0.4458 0.4129 0.4588 het 3160.90 244 19 53959568 . G C 3160.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.527;DP=244;Dels=0.00;FS=0.481;HRun=0;HaplotypeScore=1.9066;MQ=58.94;MQ0=0;MQRankSum=0.919;QD=12.95;ReadPosRankSum=-0.013;VQSLOD=5.9252;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:127,117:244:99:3191,0,3501 19 53959715 53959715 C T exonic ZNF761;ZNF765-ZNF761 nonsynonymous SNV ZNF761:NM_001289951:exon6:c.C1954T:p.H652Y,ZNF761:NM_001289952:exon6:c.C1954T:p.H652Y,ZNF761:NM_001008401:exon7:c.C1954T:p.H652Y,ZNF765-ZNF761:NM_001350496:exon14:c.C1954T:p.H652Y 0.0002 . . . 0.001 . 0.0006 0 0 0 0.0014 0.0010 0.0011 0 0.0006 0.0002 0.0008 . . rs141685694 COSM4962233 1(pancreas) . . . . . . . . . . . . . . 1.0 0.899 D 0.991 0.797 D . . . . . . . . . . . . . . . 0.272 0.330 . . . . . . . . . 1.557 0.249 13.62 0.917 0.204 0.812 0.404 D n 0.461 0.050 0.000 0.064 0.322 0.047 0 1.13 0.197 2.216 0.423 0.400 0.275 0.391 0.259 0.002 0.062 9.155 0.360 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0006 0.0001 2.978e-05 0 0 0.0012 0.0010 0.0005 0 0.0008 0.0001 0 0 0 0.0020 0.0009 0.0020 het 2547.60 201 19 53959715 . C T 2547.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.939;DP=201;Dels=0.00;FS=1.736;HRun=0;HaplotypeScore=4.2775;MQ=59.23;MQ0=0;MQRankSum=1.045;QD=12.67;ReadPosRankSum=-1.989;VQSLOD=3.6329;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:104,97:201:99:2578,0,2938 19 53994061 53994061 A G exonic ZNF813 nonsynonymous SNV ZNF813:NM_001004301:exon4:c.A575G:p.Y192C 0.13 0.22 0.13 0.086 0.12 0.094 0.1161 0.1918 0.1784 0.0852 0.1341 0.0954 0.1086 0.1205 0.13 0.18 0.1 0.13 . rs3859494 . . . . . . . . . . . . . 0.4 0.105 T 0.343 0.317 B 0.111 0.300 B . . . 0.989 0.588 P 0.125 0.086 N 2.91 0.100 T -5.94 0.891 D 0.084 0.081 -0.951 0.408 T 0.000 0.000 T . . . -0.030 0.091 2.308 0.109 0.002 0.023 0.065 N c -1.167 -1.163 0.000 0.029 0.563 0.310 0 0.467 0.159 0.311 0.190 0.376 0.275 0.001 0.137 0.034 0.151 . . Zinc finger C2H2-type/integrase DNA-binding domain . . 0.1174 0.1855 0.1676 0.0746 0.0862 0.1333 0.0978 0.1164 0.1200 0.1356 0.1935 0.1372 0.0695 0.0825 0.1239 0.1137 0.1039 het 2328 168 19 53994061 . A G 2328 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.005;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7900;MQ=57.52;MQ0=0;MQRankSum=0.592;QD=13.86;ReadPosRankSum=-0.167;VQSLOD=4.6568;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,84:168:99:2358,0,2235 19 53994802 53994802 A T exonic ZNF813 nonsynonymous SNV ZNF813:NM_001004301:exon4:c.A1316T:p.Y439F 0.13 0.21 0.12 0.075 0.11 0.093 0.1062 0.1877 0.1693 0.0712 0.1287 0.0824 0.1011 0.1188 0.12 0.18 0.085 0.12 . rs10422163 COSM148733 1(stomach) . . . . . . . . . . . 0.043 0.413 D 0.74 0.410 P 0.455 0.445 P . . . 1 0.197 P 0.365 0.121 N 2.22 0.182 T -3.56 0.688 D 0.074 0.067 -0.963 0.386 T 0.000 0.000 T . . . 1.378 0.229 12.67 0.923 0.211 0.011 0.040 N c -0.968 -1.153 0.000 0.012 0.707 0.730 0 -0.088 0.129 -0.287 0.084 -0.208 0.100 0.000 0.063 0.001 0.043 5.404 0.155 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.1071 0.1821 0.1588 0.0537 0.0724 0.1271 0.0843 0.103 0.1182 0.1266 0.1907 0.1301 0.0596 0.0705 0.1152 0.1013 0.0941 het 1271.27 93 19 53994802 . A T 1271.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.754;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.56;MQ0=0;MQRankSum=0.688;QD=13.67;ReadPosRankSum=0.219;VQSLOD=7.1042;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,46:93:99:1301,0,1292 19 53995004 53995004 G A exonic ZNF813 synonymous SNV ZNF813:NM_001004301:exon4:c.G1518A:p.R506R 0.78 0.93 0.81 0.65 0.75 0.74 0.7483 0.9076 0.8083 0.6502 0.7644 0.7254 0.7584 0.7478 0.79 0.9 0.73 0.76 . rs2708845 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7498 0.9108 0.8050 0.7801 0.6455 0.7579 0.7224 0.7637 0.7510 0.7777 0.9091 0.8014 0.7833 0.6517 0.7543 0.7205 0.7448 hom 3586.08 116 19 53995004 . G A 3586.08 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.6634;MQ=59.15;MQ0=0;QD=30.91;VQSLOD=8.2316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3585,283,0 19 54080144 54080144 A G exonic ZNF331 synonymous SNV ZNF331:NM_001253801:exon5:c.A330G:p.R110R,ZNF331:NM_001317113:exon5:c.A330G:p.R110R,ZNF331:NM_001317116:exon5:c.A330G:p.R110R,ZNF331:NM_001317119:exon5:c.A330G:p.R110R,ZNF331:NM_001317121:exon5:c.A330G:p.R110R,ZNF331:NM_001079906:exon6:c.A330G:p.R110R,ZNF331:NM_001079907:exon6:c.A330G:p.R110R,ZNF331:NM_001253799:exon6:c.A330G:p.R110R,ZNF331:NM_001253800:exon6:c.A330G:p.R110R,ZNF331:NM_001317114:exon6:c.A330G:p.R110R,ZNF331:NM_001317117:exon6:c.A330G:p.R110R,ZNF331:NM_001317118:exon6:c.A330G:p.R110R,ZNF331:NM_001253798:exon7:c.A330G:p.R110R,ZNF331:NM_001317115:exon7:c.A330G:p.R110R,ZNF331:NM_001317120:exon7:c.A330G:p.R110R,ZNF331:NM_018555:exon7:c.A330G:p.R110R 0.74 0.93 0.6 0.7 0.7 0.7 0.7094 0.8949 0.5450 0.6772 0.6707 0.7197 0.6998 0.6993 0.77 0.89 0.71 0.69 0.64 rs8109631 COSM148735 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6969 0.8981 0.5592 0.6998 0.6706 0.6636 0.7200 0.7151 0.6977 0.7493 0.8900 0.5885 0.6854 0.6508 0.6672 0.7105 0.7026 het 1345.88 147 19 54080144 . A G 1345.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.313;DP=147;Dels=0.00;FS=0.640;HRun=1;HaplotypeScore=7.6470;MQ=59.26;MQ0=0;MQRankSum=1.484;QD=9.16;ReadPosRankSum=-1.463;VQSLOD=3.8677;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:88,57:147:99:1376,0,2229 19 54307322 54307322 G A exonic NLRP12 synonymous SNV NLRP12:NM_001277126:exon6:c.C2472T:p.L824L,NLRP12:NM_001277129:exon6:c.C2469T:p.L823L,NLRP12:NM_144687:exon6:c.C2469T:p.L823L 0.43 0.13 0.58 0.57 0.58 0.41 0.5186 0.2012 0.5502 0.5717 0.5876 0.5765 0.5343 0.4050 0.49 0.22 0.62 0.38 0.5 rs12460528 COSM4000908;COSM4000906;COSM4000907 1(haematopoietic_and_lymphoid_tissue) Benign|Benign\x2cBenign|Benign not_specified|Familial_cold_autoinflammatory_syndrome\x2cnot_specified|Familial_cold_autoinflammatory_syndrome RCV000248870.1|RCV000321519.1\x2cRCV000244296.1|RCV000376130.1 MedGen|MedGen\x2cMedGen|MedGen CN169374|CN230757\x2cCN169374|CN230757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5305 0.1912 0.5569 0.5830 0.5765 0.5905 0.5781 0.5501 0.4077 0.4646 0.1942 0.5576 0.58 0.5805 0.5841 0.5686 0.5481 hom 2256.99 68 19 54307322 . G A 2256.99 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4649;MQ=59.73;MQ0=0;QD=33.19;VQSLOD=9.1327;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2290,181,0 19 54308554 54308554 C T exonic NLRP12 synonymous SNV NLRP12:NM_001277126:exon5:c.G2397A:p.Q799Q,NLRP12:NM_001277129:exon5:c.G2394A:p.Q798Q,NLRP12:NM_144687:exon5:c.G2394A:p.Q798Q 0.81 0.77 0.86 0.74 0.89 0.8 0.8474 0.8014 0.8314 0.7458 0.8908 0.8786 0.8521 0.7968 0.85 0.8 0.88 0.78 0.85 rs4806773 COSM4415145;COSM4415144;COSM4415146 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454978.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8496 0.7973 0.8387 0.8538 0.7467 0.8860 0.8820 0.8604 0.7980 0.8465 0.7920 0.8194 0.8467 0.7755 0.8845 0.8781 0.8522 hom 5347.66 172 19 54308554 . C T 5347.66 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9867;MQ=59.44;MQ0=0;QD=31.09;VQSLOD=9.4163;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:172:99:5347,427,0 19 54327313 54327313 C A exonic NLRP12 nonsynonymous SNV NLRP12:NM_001277126:exon1:c.G116T:p.G39V,NLRP12:NM_001277129:exon1:c.G116T:p.G39V,NLRP12:NM_144687:exon1:c.G116T:p.G39V 0.26 0.39 0.23 0.18 0.2 0.24 0.2294 0.3756 0.2654 0.1703 0.1957 0.2082 0.1971 0.2442 0.27 0.37 0.22 0.29 0.27 rs34436714 COSM3757173;COSM3757172 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Familial_cold_autoinflammatory_syndrome RCV000248558.1|RCV000273265.1 MedGen|MedGen CN169374|CN230757 . . . . . . 0.01 0.564 D 0.134 0.257 B 0.052 0.255 B 0.027 0.258 N 0.391 0.326 P 2.835 0.828 M 0.13 0.610 T -3.35 0.686 D 0.129 0.543 -0.965 0.382 T 0.000 0.000 T . . . 4.595 0.615 24.4 0.973 0.328 0.062 0.120 N c -0.552 -0.568 1.000 0.747 0.560 0.301 0 4.48 0.538 1.527 0.354 0.876 0.383 0.016 0.191 0.002 0.062 13.021 0.580 DAPIN domain|Death-like domain . . 0.2239 0.3747 0.2530 0.1275 0.1789 0.1912 0.2109 0.2079 0.2468 0.2555 0.3687 0.2782 0.1126 0.1819 0.1821 0.2176 0.2363 het 1302.18 101 19 54327313 . C A 1302.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.682;DP=101;Dels=0.00;FS=3.710;HRun=0;HaplotypeScore=0.9947;MQ=59.54;MQ0=0;MQRankSum=0.617;QD=12.89;ReadPosRankSum=0.542;VQSLOD=6.6516;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,48:101:99:1332,0,1544 19 54385820 54385820 C T exonic PRKCG synonymous SNV PRKCG:NM_001316329:exon1:c.C72T:p.A24A,PRKCG:NM_002739:exon1:c.C72T:p.A24A 0.9 0.68 0.96 0.99 0.95 0.99 0.9463 0.7310 0.9661 0.9903 0.9639 0.9573 0.9626 0.9919 0.88 0.74 0.96 0.29 0.94 rs2547362 . . other|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000118063.3|RCV000379683.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9508 0.7290 0.9639 0.9423 0.9893 0.9649 0.9577 0.9542 0.9917 0.8952 0.7382 0.9570 0.9404 0.9883 0.9656 0.9530 0.9378 hom 4320.16 136 19 54385820 . C T 4320.16 Mask AC=2;AF=1.00;AN=2;DP=136;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7621;MQ=59.47;MQ0=0;QD=31.77;VQSLOD=9.5227;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4320,352,0 19 54394965 54394965 T C exonic PRKCG synonymous SNV PRKCG:NM_001316329:exon6:c.T567C:p.N189N,PRKCG:NM_002739:exon6:c.T567C:p.N189N 0.33 0.17 0.41 0.29 0.42 0.43 0.3977 0.2178 0.4692 0.3042 0.4539 0.4114 0.4119 0.4317 0.35 0.22 0.41 0.35 0.45 rs3745406 COSM4418377;COSM148736 1(stomach);1(haematopoietic_and_lymphoid_tissue) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000118062.2|RCV000407374.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4069 0.2177 0.4719 0.4374 0.2995 0.4532 0.4107 0.4092 0.4324 0.3544 0.2069 0.4844 0.4536 0.2954 0.4478 0.4130 0.3937 het 2303.15 194 19 54394965 . T C 2303.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.184;DP=194;Dels=0.00;FS=0.530;HRun=0;HaplotypeScore=5.7463;MQ=59.36;MQ0=0;MQRankSum=-0.269;QD=11.87;ReadPosRankSum=0.535;VQSLOD=5.2181;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,96:194:99:2333,0,2512 19 54403925 54403925 T C exonic PRKCG synonymous SNV PRKCG:NM_001316329:exon14:c.T1497C:p.F499F,PRKCG:NM_002739:exon14:c.T1497C:p.F499F 0.06 0.093 0.025 0.11 0.005 0.05 0.0312 0.0820 0.0570 0.1254 0.0026 0.0067 0.0275 0.0426 0.031 0.081 0.0053 0.087 0.0082 rs2242244 . . Benign|Likely benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000174736.1|RCV000367304.1 MedGen|MedGen CN169374|CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0296 0.0800 0.0503 0.0061 0.1198 0.0033 0.0064 0.0257 0.0428 0.0317 0.0775 0.0335 0.0099 0.1023 0.0040 0.0051 0.0194 het 2921.73 249 19 54403925 . T C 2921.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.778;DP=249;DS;Dels=0.00;FS=5.271;HRun=0;HaplotypeScore=2.8205;MQ=59.57;MQ0=0;MQRankSum=0.077;QD=11.73;ReadPosRankSum=-0.070;VQSLOD=5.6948;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:137,112:249:99:2952,0,3963 19 54545186 54545186 C T exonic VSTM1 synonymous SNV VSTM1:NM_001288793:exon4:c.G177A:p.P59P,VSTM1:NM_001288792:exon6:c.G444A:p.P148P,VSTM1:NM_001288791:exon7:c.G273A:p.P91P,VSTM1:NM_198481:exon7:c.G537A:p.P179P 0.18 0.14 0.29 0.065 0.33 0.13 0.2543 0.1668 0.2856 0.0611 0.3240 0.3079 0.2709 0.1432 0.26 0.17 0.31 0.2 0.3 rs73058793 COSM3757174;COSM4783655 2(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2572 0.1638 0.2816 0.2570 0.0588 0.3271 0.3095 0.2803 0.1437 0.2599 0.1650 0.2715 0.2233 0.0660 0.3281 0.3192 0.2796 hom 3852.82 122 19 54545186 . C T 3852.82 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4304;MQ=59.12;MQ0=0;QD=31.58;VQSLOD=8.8541;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3852,295,0 19 54545531 54545531 T C exonic VSTM1 nonsynonymous SNV VSTM1:NM_001288793:exon2:c.A127G:p.S43G,VSTM1:NM_001288791:exon5:c.A223G:p.S75G,VSTM1:NM_198481:exon5:c.A487G:p.S163G 0.32 0.39 0.44 0.16 0.43 0.21 0.3908 0.4069 0.4846 0.1640 0.4675 0.4302 0.3872 0.2440 0.42 0.39 0.44 0.32 0.39 rs2433724 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.720 0.099 N 1e-37 0.810 P -1.59 0.004 N 6.9 0.005 T 1.49 0.007 N 0.059 0.043 -0.908 0.471 T 0.000 0.000 T . . . -0.668 0.046 0.086 0.617 0.066 0.001 0.004 N c -1.168 -1.080 0.999 0.382 0.765 0.991 0 2.55 0.296 0.433 0.210 -0.026 0.128 0.454 0.264 0.005 0.090 6.087 0.191 . ENSG00000189068.5|ENSG00000170909.9|ENSG00000189068.5|ENSG00000248385.3|ENSG00000170909.9 Lung|Lung|Whole_Blood|Whole_Blood|Whole_Blood 0.3937 0.4070 0.4806 0.3911 0.1566 0.4629 0.4299 0.3980 0.2436 0.4145 0.3937 0.4460 0.3533 0.1796 0.4601 0.4408 0.4127 hom 2143.90 68 19 54545531 . T C 2143.90 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.46;MQ0=0;QD=31.53;VQSLOD=9.3190;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2177,184,0 19 54600232 54600232 A C exonic OSCAR nonsynonymous SNV OSCAR:NM_001282350:exon3:c.T257G:p.I86S,OSCAR:NM_133168:exon3:c.T257G:p.I86S,OSCAR:NM_001282349:exon4:c.T290G:p.I97S,OSCAR:NM_133169:exon4:c.T290G:p.I97S,OSCAR:NM_130771:exon5:c.T302G:p.I101S,OSCAR:NM_206818:exon5:c.T302G:p.I101S 0.87 0.86 0.9 0.7 0.99 0.9 0.9344 0.8851 0.9129 0.7033 0.9826 0.9774 0.9558 0.9075 0.95 0.89 0.97 0.88 0.89 rs1657535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9338 0.8842 0.9122 0.9745 0.7023 0.9838 0.9765 0.9533 0.9037 0.9363 0.8901 0.8974 0.9570 0.6953 0.9808 0.9789 0.9611 hom 2432.56 73 19 54600232 . A C 2432.56 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.37;MQ0=0;QD=33.32;VQSLOD=9.6491;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2466,196,0 19 54649671 54649671 T C exonic CNOT3 synonymous SNV CNOT3:NM_014516:exon9:c.T729C:p.P243P 0.99 1. 1. 0.98 1. 1. 0.9983 0.9997 0.9997 0.9795 1 0.9999 1 0.9991 1. 1. 1. 1. 0.93 rs36665 COSM4132427;COSM4132426 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9998 0.9996 0.9997 0.9791 0.9978 0.9996 0.9996 0.9995 0.9986 0.9999 1 1 0.9778 1 0.9998 0.9969 hom 3097.67 103 19 54649671 . T C 3097.67 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.4427;MQ=56.73;MQ0=0;QD=30.07;VQSLOD=3.4409;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3131,241,0 19 54664209 54664209 G C exonic TMC4 nonsynonymous SNV TMC4:NM_001145303:exon14:c.C2065G:p.Q689E,TMC4:NM_144686:exon14:c.C2047G:p.Q683E 0.51 0.61 0.46 0.26 0.53 0.67 0.5014 0.5644 0.4426 0.2636 0.4266 0.5097 0.5166 0.6231 0.53 0.56 0.52 0.6 0.35 rs36657 COSM1163606;COSM1163605 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4947 0.5670 0.4412 0.4752 0.2633 0.4352 0.5157 0.5097 0.6190 0.5123 0.5721 0.4630 0.4570 0.2611 0.4344 0.5274 0.5 het 1282.62 132 19 54664209 . G C 1282.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.120;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5637;MQ=59.26;MQ0=0;MQRankSum=0.697;QD=9.72;ReadPosRankSum=0.494;VQSLOD=5.9757;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,55:132:99:1313,0,2084 19 54664752 54664752 A C exonic TMC4 synonymous SNV TMC4:NM_001145303:exon13:c.T1854G:p.L618L,TMC4:NM_144686:exon13:c.T1836G:p.L612L 0.43 0.44 0.42 0.21 0.51 0.58 0.4605 0.4196 0.3683 0.2172 0.4245 0.4925 0.4767 0.5615 0.47 0.42 0.5 0.48 0.48 rs36656 COSM5420189;COSM5420188 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4565 0.4199 0.3769 0.4581 0.2191 0.4345 0.4973 0.4793 0.5576 0.4598 0.4279 0.4021 0.4570 0.2255 0.4378 0.5102 0.4897 het 504.58 46 19 54664752 . A C 504.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.065;DP=46;Dels=0.00;FS=1.172;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=0.022;QD=10.97;ReadPosRankSum=0.352;VQSLOD=6.4286;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,23:46:99:535,0,645 19 54677759 54677759 T C exonic MBOAT7 synonymous SNV MBOAT7:NM_001146056:exon6:c.A1179G:p.P393P,MBOAT7:NM_001146083:exon7:c.A1179G:p.P393P,MBOAT7:NM_024298:exon8:c.A1398G:p.P466P 0.99 1. 1. 0.97 1. 1. 0.9982 1 1 0.9754 1 1.0000 1 0.9999 1. 1. 1. 1. 0.8 rs4806721 COSM4132436 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9981 1 1 1 0.9738 1 1.0000 0.9994 0.9998 0.9986 0.9998 1 1 0.9765 1 1 0.9980 hom 1373.82 43 19 54677759 . T C 1373.82 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;QD=31.95;VQSLOD=8.7536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1407,111,0 19 54697079 54697079 C T exonic TSEN34 synonymous SNV TSEN34:NM_001077446:exon4:c.C795T:p.P265P,TSEN34:NM_001282332:exon5:c.C795T:p.P265P,TSEN34:NM_001282333:exon5:c.C804T:p.P268P,TSEN34:NM_024075:exon5:c.C795T:p.P265P 0.75 0.86 0.69 0.48 0.83 0.84 0.7722 0.8457 0.5975 0.4948 0.8146 0.8160 0.7633 0.8023 0.83 0.85 0.82 0.78 0.85 rs7595 . . Benign|Benign not_specified|Pontoneocerebellar_hypoplasia RCV000147766.1|RCV000284876.1 MedGen|MedGen:SNOMED_CT CN169374|C1261175:373666002 Obesity-related traits . .05 23251661 rs7595 3E-8 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7628 0.8446 0.6108 0.8093 0.4857 0.8172 0.8155 0.7756 0.7954 0.7980 0.8441 0.6615 0.8377 0.5012 0.8108 0.8063 0.8074 het 2227.31 178 19 54697079 . C T 2227.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.823;DP=178;Dels=0.00;FS=1.900;HRun=0;HaplotypeScore=5.8504;MQ=58.40;MQ0=0;MQRankSum=0.119;QD=12.51;ReadPosRankSum=1.334;VQSLOD=4.9613;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,82:178:99:2257,0,2384 19 54759361 54759361 T C exonic LILRB5 nonsynonymous SNV LILRB5:NM_001081443:exon4:c.A440G:p.D147G,LILRB5:NM_001081442:exon5:c.A740G:p.D247G,LILRB5:NM_006840:exon5:c.A740G:p.D247G 0.27 0.15 0.32 0.12 0.43 0.38 0.3444 0.1725 0.2051 0.0947 0.3623 0.4180 0.3689 0.3754 0.33 0.18 0.41 0.27 0.39 rs12975366 COSM1396264;COSM1396263 1(thyroid) . . . . . . . . . . . 0.015 0.654 D 0.998 0.899 D 0.988 0.782 D 0.878 0.088 N 1 0.090 P 2.54 0.743 M 2.57 0.136 T -5.86 0.885 D 0.205 0.255 -0.960 0.393 T 0.000 0.000 T . . . 3.278 0.453 22.8 0.994 0.628 0.040 0.092 N c -0.223 -0.513 0.006 0.110 0.497 0.185 0 1.52 0.221 -0.196 0.095 0.885 0.389 0.000 0.063 0.228 0.223 5.559 0.163 Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.3431 0.1670 0.2230 0.4590 0.0969 0.3625 0.4153 0.3956 0.3774 0.3190 0.1726 0.2470 0.4735 0.0936 0.3660 0.4148 0.3745 het 1174.82 75 19 54759361 . T C 1174.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.635;DP=75;Dels=0.00;FS=0.869;HRun=1;HaplotypeScore=2.5141;MQ=59.57;MQ0=0;MQRankSum=0.410;QD=15.66;ReadPosRankSum=-0.346;VQSLOD=5.7847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,41:75:99:1205,0,817 19 54782407 54782407 C T exonic LILRB2 nonsynonymous SNV LILRB2:NM_001278404:exon6:c.G617A:p.R206H,LILRB2:NM_001278405:exon6:c.G965A:p.R322H,LILRB2:NM_001278406:exon6:c.G965A:p.R322H,LILRB2:NM_001080978:exon7:c.G965A:p.R322H,LILRB2:NM_001278403:exon7:c.G965A:p.R322H,LILRB2:NM_005874:exon7:c.G965A:p.R322H 0.32 0.25 0.38 0.086 0.57 0.38 0.4620 0.3796 0.2811 0.0879 0.5105 0.5647 0.4711 0.3914 0.51 0.39 0.57 0.34 0.53 rs1128646 . . . . . . . . . . . . . 0.497 0.082 T 0.001 0.112 B 0.002 0.093 B 0.143 0.029 N 1 0.090 P 0.255 0.098 N 6.98 0.005 T -0.37 0.132 N 0.023 0.118 -0.958 0.396 T 0.000 0.000 T . . . -1.041 0.030 0.013 0.378 0.025 0.001 0.006 N c -2.518 -2.607 1.000 0.437 0.447 0.083 0 -3.77 0.040 -0.614 0.057 -7.114 0.000 0.000 0.063 0.000 0.016 1.212 0.018 Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.4530 0.3205 0.2944 0.5125 0.0970 0.5147 0.5712 0.4930 0.3863 0.4395 0.2893 0.3541 0.5101 0.1063 0.5149 0.5457 0.4886 het 1285.85 101 19 54782407 . C T 1285.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.329;DP=101;Dels=0.00;FS=2.139;HRun=0;HaplotypeScore=3.2550;MQ=58.91;MQ0=0;MQRankSum=1.287;QD=12.73;ReadPosRankSum=1.871;VQSLOD=4.9784;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,51:101:99:1316,0,1242 19 54783375 54783375 T A exonic LILRB2 nonsynonymous SNV LILRB2:NM_001278404:exon4:c.A135T:p.E45D,LILRB2:NM_001278405:exon4:c.A483T:p.E161D,LILRB2:NM_001278406:exon4:c.A483T:p.E161D,LILRB2:NM_001080978:exon5:c.A483T:p.E161D,LILRB2:NM_001278403:exon5:c.A483T:p.E161D,LILRB2:NM_005874:exon5:c.A483T:p.E161D 0.84 0.96 0.85 0.91 0.76 0.7 0.8001 0.9419 0.8850 0.9320 0.8149 0.7724 0.7704 0.6899 0.83 0.94 0.78 0.87 0.87 rs373032 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8014 0.9443 0.8789 0.6735 0.9296 0.8090 0.7787 0.7840 0.6945 0.8286 0.9405 0.8600 0.6755 0.9345 0.8150 0.7598 0.7747 hom 7865.30 248 19 54783375 . T A 7865.30 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.696;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7009;MQ=49.80;MQ0=2;MQRankSum=-0.880;QD=31.71;ReadPosRankSum=-0.256;VQSLOD=3.0881;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,247:248:99:7826,627,0 19 54783923 54783923 A G exonic LILRB2 synonymous SNV LILRB2:NM_001278405:exon3:c.T78C:p.I26I,LILRB2:NM_001278406:exon3:c.T78C:p.I26I,LILRB2:NM_001080978:exon4:c.T78C:p.I26I,LILRB2:NM_001278403:exon4:c.T78C:p.I26I,LILRB2:NM_005874:exon4:c.T78C:p.I26I 0.97 1. 0.95 1. 0.92 0.99 0.9567 0.9880 0.9691 0.9998 0.9628 0.9377 0.9547 0.9798 0.96 0.99 0.94 0.96 0.93 rs366337 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9553 0.9897 0.9627 0.9252 0.9998 0.9597 0.9365 0.9477 0.9810 0.9590 0.9884 0.9582 0.9233 1 0.9594 0.9387 0.9508 hom 4891.16 148 19 54783923 . A G 4891.16 Mask AC=2;AF=1.00;AN=2;DP=148;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7333;MQ=59.39;MQ0=0;QD=33.05;VQSLOD=9.4593;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4891,385,0 19 54784130 54784130 T C exonic LILRB2 nonsynonymous SNV LILRB2:NM_001278405:exon2:c.A59G:p.H20R,LILRB2:NM_001278406:exon2:c.A59G:p.H20R,LILRB2:NM_001080978:exon3:c.A59G:p.H20R,LILRB2:NM_001278403:exon3:c.A59G:p.H20R,LILRB2:NM_005874:exon3:c.A59G:p.H20R 0.23 0.064 0.23 0.6 0.17 0.15 0.2311 0.0890 0.3726 0.6551 0.2809 0.1840 0.2152 0.1706 0.15 0.089 0.18 0.24 0.23 rs383369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2357 0.0879 0.3502 0.0904 0.6421 0.2689 0.1845 0.1995 0.1715 0.1923 0.0858 0.3002 0.0861 0.6138 0.2734 0.1855 0.2078 het 1250.67 126 19 54784130 . T C 1250.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.318;DP=126;Dels=0.00;FS=2.298;HRun=0;HaplotypeScore=3.8025;MQ=57.71;MQ0=0;MQRankSum=0.526;QD=9.93;ReadPosRankSum=0.735;VQSLOD=4.1584;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,54:126:99:1281,0,1810 19 54848684 54848684 G A exonic LILRA4 synonymous SNV LILRA4:NM_012276:exon5:c.C939T:p.D313D 0.2 0.16 0.21 0.26 0.2 0.17 0.2034 0.1765 0.2064 0.2164 0.2008 0.2063 0.2115 0.1992 0.18 0.16 0.19 0.17 0.2 rs8105624 COSM4132490 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2009 0.1672 0.1986 0.1775 0.2240 0.2087 0.2044 0.2020 0.1956 0.1886 0.1666 0.1938 0.1623 0.2206 0.2147 0.1926 0.1800 hom 1704.36 60 19 54848684 . G A 1704.36 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.44;MQ0=0;QD=28.41;VQSLOD=7.5328;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1737,141,0 19 54849942 54849942 G A exonic LILRA4 nonsynonymous SNV LILRA4:NM_012276:exon3:c.C80T:p.P27L 0.2 0.16 0.21 0.27 0.17 0.2 0.1853 0.1595 0.2099 0.2210 0.1595 0.1701 0.1913 0.2400 0.16 0.16 0.17 0.22 0.18 rs2241384 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1844 0.1602 0.1985 0.1615 0.2288 0.1637 0.1710 0.1809 0.2265 0.1668 0.1687 0.1727 0.1921 0.2178 0.1671 0.1594 0.1643 het 1101.90 85 19 54849942 . G A 1101.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.265;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0824;MQ=59.29;MQ0=0;MQRankSum=-1.209;QD=12.96;ReadPosRankSum=1.128;VQSLOD=4.4701;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:1132,0,1411 19 54867572 54867572 C T exonic LAIR1 synonymous SNV LAIR1:NM_001289023:exon8:c.G654A:p.T218T,LAIR1:NM_001289027:exon8:c.G654A:p.T218T,LAIR1:NM_021706:exon8:c.G657A:p.T219T,LAIR1:NM_001289025:exon9:c.G705A:p.T235T,LAIR1:NM_001289026:exon9:c.G687A:p.T229T,LAIR1:NM_002287:exon9:c.G708A:p.T236T 0.23 0.1 0.27 0.28 0.37 0.2 0.2967 0.1282 0.3025 0.2710 0.3091 0.3462 0.3029 0.2071 0.28 0.13 0.35 0.21 0.29 rs7257187 COSM3757193 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3040 0.1260 0.3026 0.4145 0.2716 0.3031 0.3490 0.3309 0.2095 0.2747 0.1279 0.3258 0.4570 0.2488 0.3067 0.3473 0.3002 het 1415.61 93 19 54867572 . C T 1415.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.956;DP=93;Dels=0.00;FS=0.822;HRun=0;HaplotypeScore=1.5731;MQ=58.90;MQ0=0;MQRankSum=0.200;QD=15.22;ReadPosRankSum=-0.506;VQSLOD=6.4345;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,50:93:99:1446,0,985 19 54973653 54973653 C T exonic LENG9 nonsynonymous SNV LENG9:NM_001301782:exon1:c.G1057A:p.E353K,LENG9:NM_198988:exon1:c.G1123A:p.E375K 0.0026 . 0.0072 . 0.008 . 0.0063 0.0017 0.0057 0 0.0024 0.0097 0.0045 0.0009 0.0074 0.0027 0.0098 . 0.025 rs35752413 . . . . . . . . . . . . . . . . 0.99 0.615 D 0.823 0.574 P 0.000 0.629 U 0.916 0.365 D 2.32 0.666 M . . . . . . 0.666 0.677 -0.440 0.708 T 0.244 0.613 T 0.090 0.756 D 5.168 0.697 25.5 0.999 0.940 0.715 0.348 D c 0.217 0.089 1.000 0.747 0.493 0.174 0 3.48 0.388 2.617 0.458 0.852 0.362 0.744 0.288 0.013 0.120 8.930 0.346 Protein kinase A anchor protein\x2c nuclear localisation signal domain|RNA ligase/cyclic nucleotide phosphodiesterase . . 0.0064 0.0011 0.0060 0.0037 5.803e-05 0.0032 0.0107 0.0059 0.0009 0.0050 0.0017 0.0060 0.0033 0 0.0014 0.0083 0.0041 het 856.71 76 19 54973653 . C T 856.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.332;DP=76;Dels=0.00;FS=10.734;HRun=1;HaplotypeScore=0.9979;MQ=59.02;MQ0=0;MQRankSum=-0.045;QD=11.27;ReadPosRankSum=-0.845;VQSLOD=3.9380;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,37:76:99:887,0,1068 19 55086775 55086775 C T exonic LILRA2 synonymous SNV LILRA2:NM_001290270:exon4:c.C672T:p.P224P,LILRA2:NM_001130917:exon5:c.C708T:p.P236P,LILRA2:NM_001290271:exon6:c.C708T:p.P236P,LILRA2:NM_006866:exon6:c.C708T:p.P236P 0.92 0.89 0.87 0.94 0.95 0.93 0.9138 0.8952 0.8185 0.9474 0.9433 0.9228 0.9218 0.9264 0.92 0.89 0.93 0.96 0.92 rs1052120 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9118 0.8942 0.8284 0.9274 0.9454 0.9427 0.9219 0.9217 0.9270 0.9161 0.8985 0.8496 0.9106 0.9511 0.9410 0.9207 0.9138 hom 5941.06 197 19 55086775 . C T 5941.06 Mask AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9699;MQ=56.42;MQ0=1;QD=30.16;VQSLOD=4.2070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,197:197:99:5940,448,0 19 55143036 55143036 C G exonic LILRB1 synonymous SNV LILRB1:NM_001081637:exon4:c.C156G:p.G52G,LILRB1:NM_001081638:exon4:c.C156G:p.G52G,LILRB1:NM_001081639:exon4:c.C156G:p.G52G,LILRB1:NM_001278398:exon4:c.C156G:p.G52G,LILRB1:NM_001278399:exon4:c.C156G:p.G52G,LILRB1:NM_006669:exon5:c.C156G:p.G52G 0.0004 . . . 0.002 . 0.0021 0.0008 0.0008 0 0.0026 0.0034 0 6.062e-05 0.0023 0.0011 0.0029 . 0.025 rs200861496 COSM3797518 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0004 0.0010 0.0010 0 0.0026 0.0034 0.0016 0.0002 0.0019 0.0005 0.0012 0 0 0.0017 0.0032 0.0010 het 2841.93 192 19 55143036 . C G 2841.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.380;DP=192;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=7.2846;MQ=59.19;MQ0=0;MQRankSum=-0.276;QD=14.80;ReadPosRankSum=0.023;VQSLOD=3.0046;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,103:192:99:2872,0,2364 19 55174498 55174498 T C exonic LILRB4 nonsynonymous SNV LILRB4:NM_001278426:exon1:c.T13C:p.F5L,LILRB4:NM_001278427:exon1:c.T13C:p.F5L,LILRB4:NM_001278428:exon1:c.T13C:p.F5L,LILRB4:NM_001278429:exon1:c.T136C:p.F46L,LILRB4:NM_001278430:exon1:c.T13C:p.F5L 0.3 0.5 0.23 0.23 0.24 0.24 0.2539 0.4393 0.2038 0.1971 0.2155 0.2504 0.2439 0.2323 0.31 0.42 0.25 0.29 0.18 rs28366008 COSM148745 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.002 0.063 B . . . 1 0.090 P -2.51 0.001 N 7.44 0.004 T 2.64 0.002 N 0.047 0.336 -0.982 0.346 T 0.000 0.000 T . . . -1.747 0.012 0.002 0.476 0.038 0.001 0.006 N c -1.836 -1.740 1.000 0.517 0.487 0.133 0 0.476 0.159 -0.099 0.109 -0.419 0.060 0.012 0.185 0.003 0.074 3.440 0.070 . . . 0.2434 0.4331 0.2070 0.1859 0.1962 0.2153 0.2500 0.2356 0.2315 0.2910 0.4316 0.2074 0.22 0.1970 0.2045 0.2489 0.2402 het 1258.60 106 19 55174498 . T C 1258.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.907;DP=106;Dels=0.00;FS=0.742;HRun=2;HaplotypeScore=0.8941;MQ=59.21;MQ0=0;MQRankSum=1.023;QD=11.87;ReadPosRankSum=-0.811;VQSLOD=6.3317;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,43:106:99:1289,0,1580 19 55175009 55175009 G T exonic LILRB4 nonsynonymous SNV LILRB4:NM_001278426:exon2:c.G54T:p.R18S,LILRB4:NM_001278427:exon2:c.G54T:p.R18S,LILRB4:NM_001278428:exon2:c.G54T:p.R18S,LILRB4:NM_001278430:exon2:c.G54T:p.R18S 0.2 0.21 0.2 0.12 0.18 0.26 0.1972 0.2117 0.2012 0.1158 0.1675 0.1855 0.1980 0.2872 0.2 0.22 0.19 0.16 0.18 rs11540761 COSM5468371 1(large_intestine) . . . . . . . . . . . 0.409 0.506 T 0.404 0.899 B 0.254 0.875 B . . . 1 0.090 P 3.03 0.867 M 2.76 0.115 T -2.55 0.757 D 0.219 0.534 -0.896 0.484 T 0.000 0.000 T . . . 0.688 0.160 8.749 0.931 0.221 0.024 0.067 N c -0.489 -0.728 0.998 0.358 0.487 0.133 0 1.28 0.206 0.280 0.184 0.924 0.433 0.000 0.063 0.037 0.154 6.865 0.231 . . . 0.1961 0.2113 0.1988 0.2214 0.1153 0.1717 0.1841 0.1977 0.2839 0.1848 0.2054 0.1751 0.2 0.1093 0.1630 0.1862 0.1876 het 1437.90 134 19 55175009 . G T 1437.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.807;DP=134;Dels=0.00;FS=4.247;HRun=0;HaplotypeScore=4.9060;MQ=56.74;MQ0=0;MQRankSum=0.628;QD=10.73;ReadPosRankSum=0.810;VQSLOD=3.6969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,66:134:99:1468,0,1595 19 55175740 55175740 C T exonic LILRB4 synonymous SNV LILRB4:NM_001278429:exon3:c.C546T:p.F182F,LILRB4:NM_001278426:exon4:c.C459T:p.F153F,LILRB4:NM_001278427:exon4:c.C459T:p.F153F,LILRB4:NM_001278428:exon4:c.C459T:p.F153F,LILRB4:NM_001278430:exon4:c.C459T:p.F153F 0.4 0.3 0.42 0.58 0.38 0.34 0.3926 0.3146 0.4668 0.5686 0.3659 0.3712 0.4086 0.3939 0.35 0.33 0.37 0.41 0.31 rs3745871 COSM3757201 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3955 0.3136 0.4552 0.4654 0.5675 0.3630 0.3634 0.3981 0.3918 0.3688 0.3173 0.4200 0.4698 0.5660 0.3553 0.3747 0.3867 hom 5012.61 152 19 55175740 . C T 5012.61 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.4402;MQ=55.62;MQ0=0;QD=32.98;VQSLOD=4.4359;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,152:152:99:5011,424,0 19 55176262 55176262 A G exonic LILRB4 nonsynonymous SNV LILRB4:NM_001278429:exon4:c.A755G:p.D252G,LILRB4:NM_001278426:exon5:c.A668G:p.D223G,LILRB4:NM_001278427:exon5:c.A668G:p.D223G,LILRB4:NM_001278428:exon5:c.A668G:p.D223G,LILRB4:NM_001278430:exon5:c.A668G:p.D223G 0.62 0.39 0.63 0.76 0.69 0.7 0.6687 0.4281 0.5903 0.7450 0.7005 0.6953 0.6920 0.7207 0.61 0.44 0.69 0.51 0.57 rs731170 COSM4132514 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6691 0.4187 0.5956 0.7492 0.7489 0.6979 0.6917 0.6772 0.7057 0.6146 0.4280 0.5913 0.7417 0.7228 0.6970 0.6869 0.6762 hom 2293.78 81 19 55176262 . A G 2293.78 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9578;MQ=57.47;MQ0=0;QD=28.32;VQSLOD=6.8043;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2327,178,0 19 55263898 55263898 G A exonic KIR2DL3 nonsynonymous SNV KIR2DL3:NM_015868:exon8:c.G953A:p.R318H 0.26 0.3 0.21 0.13 0.41 0.23 0.3492 0.3291 0.1637 0.1174 0.4671 0.4313 0.3622 0.2326 0.39 0.31 0.43 . 0.39 rs1049267 COSM440291 1(pancreas);1(liver);2(large_intestine) . . . . . . . . . . . 0.053 0.388 T 0.958 0.530 D 0.579 0.483 P . . . 1 0.090 P 2.01 0.549 M 7.24 0.005 T -1.29 0.324 N 0.101 0.104 -0.983 0.343 T 0.000 0.000 T . . . 0.198 0.113 4.658 0.914 0.201 0.004 0.019 N c -1.665 -1.891 0.000 0.065 0.487 0.133 0 -1.82 0.074 -0.250 0.088 -1.404 0.012 0.000 0.063 0.000 0.016 8.391 0.315 . . . 0.3443 0.3275 0.1727 0.3668 0.1246 0.4626 0.4352 0.3759 0.2330 0.3915 0.3300 0.2354 0.3675 0.1090 0.4660 0.4521 0.3838 hom 6720.62 234 19 55263898 . G A 6720.62 Mask AC=2;AF=1.00;AN=2;DP=234;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4860;MQ=48.05;MQ0=3;QD=28.72;VQSLOD=2.2701;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:2,228:234:99:6694,554,0 19 55281315 55281315 G T exonic KIR2DL1 nonsynonymous SNV KIR2DL1:NM_014218:exon1:c.G13T:p.V5F 0.16 0.086 0.13 0.13 0.31 0.15 0.2358 0.1047 0.1140 0.1135 0.3511 0.3089 0.2603 0.1273 0.24 0.11 0.31 0.13 0.27 rs2304224 COSM440292 3(soft_tissue);2(thyroid);2(large_intestine) . . . . . . . . . . . 0.024 0.506 D 0.001 0.414 B 0.003 0.490 B . . . 1.000 0.588 P 1.75 0.456 L 6.97 0.005 T -2.58 0.566 D 0.101 0.106 -0.929 0.443 T 0.000 0.000 T . . . 1.202 0.210 11.76 0.977 0.349 0.003 0.014 N c -1.201 -1.430 0.000 0.012 0.487 0.133 0 -1.03 0.095 -0.885 0.042 -0.704 0.037 0.001 0.137 0.005 0.090 . . . . . 0.2365 0.0993 0.1228 0.2647 0.1197 0.3487 0.3132 0.2499 0.1276 0.2478 0.1099 0.1638 0.2390 0.1044 0.3584 0.3229 0.2712 hom 2571.29 84 19 55281315 . G T 2571.29 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.30;MQ0=0;QD=30.61;VQSLOD=8.0975;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2604,214,0 19 55396900 55396900 A G exonic FCAR synonymous SNV FCAR:NM_133272:exon2:c.A288G:p.R96R,FCAR:NM_133273:exon2:c.A288G:p.R96R,FCAR:NM_133274:exon2:c.A288G:p.R96R,FCAR:NM_133278:exon2:c.A288G:p.R96R,FCAR:NM_002000:exon3:c.A324G:p.R108R,FCAR:NM_133269:exon3:c.A324G:p.R108R,FCAR:NM_133271:exon3:c.A324G:p.R108R 0.74 0.89 0.62 0.73 0.72 0.65 0.6949 0.8608 0.5018 0.7395 0.6551 0.7122 0.6678 0.6494 0.77 0.85 0.73 0.75 0.66 rs1865096 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6841 0.8642 0.5063 0.7342 0.7421 0.6528 0.7148 0.6821 0.6523 0.7419 0.8566 0.5525 0.72 0.7481 0.6573 0.7085 0.6925 hom 2560.81 87 19 55396900 . A G 2560.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.573;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9848;MQ=59.25;MQ0=0;MQRankSum=1.613;QD=29.43;ReadPosRankSum=1.294;VQSLOD=7.8794;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,86:87:99:2594,174,0 19 55441902 55441902 T C exonic NLRP7 synonymous SNV NLRP7:NM_001127255:exon9:c.A2775G:p.A925A,NLRP7:NM_139176:exon9:c.A2691G:p.A897A,NLRP7:NM_206828:exon9:c.A2775G:p.A925A 0.59 0.54 0.61 0.7 0.53 0.6 0.5819 0.5173 0.6509 0.7138 0.5490 0.5549 0.5541 0.6291 0.54 0.52 0.56 0.58 0.54 rs269950 COSM5425449;COSM5425450;COSM5425451 2(haematopoietic_and_lymphoid_tissue) Likely benign|Benign Hydatidiform_mole|not_specified RCV000335956.1|RCV000455047.1 MedGen:OMIM:Orphanet|MedGen C2931618:231090:ORPHA254685|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5871 0.5193 0.6442 0.6258 0.7140 0.5520 0.5525 0.5635 0.6299 0.5568 0.5210 0.5979 0.6745 0.7184 0.5436 0.5580 0.5667 hom 3750.13 122 19 55441902 . T C 3750.13 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7791;MQ=59.35;MQ0=0;QD=30.74;VQSLOD=9.4419;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3749,295,0 19 55441995 55441995 A G exonic NLRP7 synonymous SNV NLRP7:NM_001127255:exon9:c.T2682C:p.Y894Y,NLRP7:NM_139176:exon9:c.T2598C:p.Y866Y,NLRP7:NM_206828:exon9:c.T2682C:p.Y894Y 0.59 0.54 0.61 0.7 0.53 0.6 0.5815 0.5165 0.6511 0.7140 0.5490 0.5543 0.5529 0.6291 0.54 0.52 0.56 0.58 0.57 rs269951 COSM5425603;COSM5425604;COSM5425605 2(haematopoietic_and_lymphoid_tissue) Likely benign|Benign Hydatidiform_mole|not_specified RCV000302096.1|RCV000455877.1 MedGen:OMIM:Orphanet|MedGen C2931618:231090:ORPHA254685|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5868 0.5190 0.6443 0.6258 0.7139 0.5518 0.5521 0.5631 0.6299 0.5565 0.5204 0.5979 0.6745 0.7182 0.5438 0.5579 0.5656 hom 5733.41 189 19 55441995 . A G 5733.41 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4731;MQ=59.25;MQ0=0;QD=30.34;VQSLOD=5.5229;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:5733,436,0 19 55494881 55494881 C G exonic NLRP2 synonymous SNV NLRP2:NM_001174082:exon5:c.C1749G:p.L583L,NLRP2:NM_001174081:exon6:c.C1815G:p.L605L,NLRP2:NM_001348003:exon6:c.C1806G:p.L602L,NLRP2:NM_017852:exon6:c.C1815G:p.L605L,NLRP2:NM_001174083:exon7:c.C1746G:p.L582L 0.27 0.16 0.41 0.23 0.38 0.26 0.3286 0.1909 0.3832 0.2440 0.3621 0.3656 0.3609 0.2564 0.31 0.19 0.37 0.24 0.32 rs11672113 COSM3757224 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3354 0.1876 0.3839 0.3309 0.2418 0.3617 0.3713 0.3562 0.2570 0.3141 0.1876 0.3852 0.3278 0.2382 0.3589 0.3778 0.3673 het 1524.18 123 19 55494881 . C G 1524.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.544;DP=123;Dels=0.00;FS=0.698;HRun=0;HaplotypeScore=3.5729;MQ=58.51;MQ0=0;MQRankSum=-0.716;QD=12.39;ReadPosRankSum=-2.021;VQSLOD=4.6884;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,62:123:99:1554,0,1610 19 55512137 55512137 C A exonic NLRP2 synonymous SNV NLRP2:NM_001174082:exon12:c.C2994A:p.I998I,NLRP2:NM_001174081:exon13:c.C3060A:p.I1020I,NLRP2:NM_001348003:exon13:c.C3051A:p.I1017I,NLRP2:NM_017852:exon13:c.C3060A:p.I1020I,NLRP2:NM_001174083:exon14:c.C2991A:p.I997I 0.55 0.45 0.67 0.68 0.49 0.53 0.5568 0.4662 0.7651 0.7090 0.4705 0.5272 0.6079 0.5394 0.51 0.46 0.53 0.59 0.47 rs12768 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5644 0.4607 0.7556 0.5785 0.7094 0.4702 0.5222 0.5649 0.5429 0.5190 0.4859 0.7029 0.5530 0.7001 0.4865 0.5138 0.5397 het 466.96 45 19 55512137 . C A 466.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.827;DP=45;Dels=0.00;FS=4.364;HRun=0;HaplotypeScore=1.9662;MQ=58.93;MQ0=0;MQRankSum=1.023;QD=10.38;ReadPosRankSum=-0.149;VQSLOD=6.0151;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,19:45:99:497,0,657 19 55512232 55512232 C A exonic NLRP2 nonsynonymous SNV NLRP2:NM_001174082:exon12:c.C3089A:p.A1030E,NLRP2:NM_001174081:exon13:c.C3155A:p.A1052E,NLRP2:NM_001348003:exon13:c.C3146A:p.A1049E,NLRP2:NM_017852:exon13:c.C3155A:p.A1052E,NLRP2:NM_001174083:exon14:c.C3086A:p.A1029E 0.33 0.36 0.44 0.18 0.42 0.29 0.3636 0.3688 0.4018 0.1751 0.3875 0.3917 0.4064 0.3070 0.39 0.36 0.4 0.41 0.33 rs1043673 COSM4000957 1(haematopoietic_and_lymphoid_tissue);1(oesophagus) . . . . . . . . . . . 1.0 0.022 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.55 0.145 N -0.75 0.737 T 0.8 0.021 N 0.09 0.118 -1.011 0.266 T 0.000 0.000 T . . . -1.252 0.023 0.005 0.209 0.008 0.000 0.002 N c -1.729 -1.731 0.000 0.053 0.706 0.609 0 -0.369 0.119 -0.986 0.038 -0.708 0.037 0.000 0.063 0.000 0.016 0.303 0.003 Leucine-rich repeat domain\x2c L domain-like ENSG00000022556.11|ENSG00000022556.11|ENSG00000022556.11|ENSG00000267265.1|ENSG00000160439.11|ENSG00000022556.11|ENSG00000022556.11|ENSG00000267265.1 Artery_Aorta|Esophagus_Mucosa|Lung|Nerve_Tibial|Pancreas|Thyroid|Whole_Blood|Whole_Blood 0.3693 0.3686 0.4111 0.3768 0.1768 0.3821 0.3978 0.3989 0.3112 0.3793 0.3753 0.3957 0.3907 0.1760 0.3884 0.3983 0.4090 het 891.38 66 19 55512232 . C A 891.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.034;DP=66;Dels=0.00;FS=2.021;HRun=1;HaplotypeScore=0.0000;MQ=57.69;MQ0=0;MQRankSum=-0.475;QD=13.51;ReadPosRankSum=0.321;VQSLOD=4.8655;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,35:66:99:921,0,744 19 55525894 55525894 G A exonic GP6 synonymous SNV GP6:NM_001083899:exon8:c.C1419T:p.P473P 0.72 0.5 0.82 0.81 0.85 0.71 0.7904 0.5170 0.8353 0.8324 0.8740 0.8240 0.83 0.7278 0.73 0.53 0.83 0.69 0.8 rs1671151 COSM3757226 1(large_intestine) Benign not_specified RCV000243793.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7980 0.5198 0.8299 0.7954 0.8361 0.8710 0.8248 0.8091 0.7286 0.7573 0.5339 0.8270 0.7351 0.85 0.8696 0.8421 0.8401 het 1339.30 86 19 55525894 . G A 1339.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.151;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.03;MQ0=0;MQRankSum=0.491;QD=15.57;ReadPosRankSum=-0.225;VQSLOD=7.0569;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,47:86:99:1369,0,1035 19 55526345 55526345 T G exonic GP6 nonsynonymous SNV GP6:NM_001256017:exon7:c.A910C:p.N304H,GP6:NM_001083899:exon8:c.A968C:p.K323T,GP6:NM_016363:exon8:c.A964C:p.N322H 0.82 0.67 0.92 0.97 0.86 0.78 0.8467 0.6871 0.9352 0.9849 0.8898 0.8456 0.8790 0.7910 0.8 0.69 0.85 0.77 0.61 rs1671152 COSM1396466 1(liver);1(thyroid);1(large_intestine) Benign not_specified RCV000244207.1 MedGen CN169374 Platelet aggregation . . 20526338 rs1671152 8E-14 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 6.62 0.006 T 0.53 0.028 N 0.039 0.019 -0.916 0.461 T 0.000 0.000 T . . . -1.424 0.019 0.003 0.369 0.024 0.001 0.007 N c -1.032 -1.099 1.000 0.747 0.487 0.133 0 2.65 0.305 0.191 0.168 0.052 0.162 0.000 0.063 0.000 0.016 6.934 0.235 . ENSG00000022556.11|ENSG00000088053.7|ENSG00000267149.2|ENSG00000267265.1|ENSG00000267149.2|ENSG00000160439.11|ENSG00000267149.2|ENSG00000022556.11|ENSG00000267265.1|ENSG00000022556.11|ENSG00000022556.11|ENSG00000267265.1 Adipose_Visceral_Omentum|Brain_Cerebellum|Esophagus_Mucosa|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Thyroid|Whole_Blood|Whole_Blood 0.8510 0.6828 0.9274 0.8087 0.9839 0.8838 0.8446 0.8458 0.7899 0.8231 0.6979 0.9 0.7517 0.9815 0.8872 0.8579 0.8691 het 473.77 38 19 55526345 . T G 473.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.525;DP=38;Dels=0.00;FS=5.124;HRun=0;HaplotypeScore=0.7887;MQ=58.90;MQ0=0;MQRankSum=-0.176;QD=12.47;ReadPosRankSum=-1.028;VQSLOD=5.6557;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,17:38:99:504,0,601 19 55526359 55526359 A T exonic GP6 nonsynonymous SNV GP6:NM_001256017:exon7:c.T896A:p.L299Q,GP6:NM_016363:exon8:c.T950A:p.L317Q 0.72 0.53 0.83 0.81 0.84 0.71 0.7998 0.5644 0.8421 0.8336 0.8760 0.8285 0.8360 0.7369 0.74 0.56 0.83 0.7 0.52 rs1654413 COSM1396467 2(thyroid);2(large_intestine) Benign not_specified RCV000251811.1 MedGen CN169374 . . . . . . 0.532 0.087 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.200 P . . . 7.09 0.005 T 1.56 0.007 N . . -1.025 0.220 T 0.000 0.000 T . . . -1.339 0.021 0.004 0.229 0.009 0.002 0.014 N c -1.972 -2.042 1.000 0.747 0.487 0.133 0 -0.947 0.098 -0.855 0.044 -1.045 0.020 0.000 0.063 0.002 0.062 0.910 0.012 . ENSG00000022556.11|ENSG00000088053.7|ENSG00000088053.7|ENSG00000267265.1|ENSG00000267149.2|ENSG00000160439.11|ENSG00000267149.2|ENSG00000267265.1|ENSG00000160439.11|ENSG00000022556.11|ENSG00000022556.11|ENSG00000267265.1 Adipose_Visceral_Omentum|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Thyroid|Whole_Blood|Whole_Blood 0.8004 0.5500 0.8323 0.7968 0.8359 0.8700 0.8247 0.8096 0.7288 0.7622 0.5579 0.8261 0.7318 0.8475 0.8693 0.8388 0.8409 het 436.15 32 19 55526359 . A T 436.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.614;DP=32;Dels=0.00;FS=3.506;HRun=0;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=-0.399;QD=13.63;ReadPosRankSum=-1.159;VQSLOD=4.8382;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,18:32:99:466,0,429 19 55526373 55526373 G C exonic GP6 nonsynonymous SNV GP6:NM_001083899:exon8:c.C940G:p.P314A 0.38 0.2 0.57 0.24 0.61 0.42 0.5425 0.2752 0.5121 0.2589 0.6561 0.6194 0.5889 0.4842 0.49 0.24 0.6 0.38 0.39 rs2304166 COSM1396468 1(oesophagus);3(large_intestine) Benign not_specified RCV000246860.1 MedGen CN169374 . . . . . . 0.342 0.126 T 1.0 0.899 D 0.996 0.832 D . . . 0.998 0.588 P . . . 6.55 0.006 T -1.26 0.318 N 0.174 0.211 -1.180 0.004 T 0.000 0.000 T . . . 3.629 0.493 23.2 0.977 0.349 0.539 0.292 D c 0.084 -0.063 1.000 0.747 0.487 0.133 0 2.65 0.305 0.277 0.184 0.922 0.432 0.472 0.265 0.279 0.233 8.956 0.348 . ENSG00000267149.2|ENSG00000160439.11 Muscle_Skeletal|Nerve_Tibial 0.5205 0.2448 0.4874 0.5455 0.2352 0.6213 0.6027 0.5586 0.4655 0.4834 0.2548 0.4819 0.5232 0.2277 0.6319 0.6027 0.5866 het 367.57 23 19 55526373 . G C 367.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.598;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9810;MQ=57.80;MQ0=0;MQRankSum=0.220;QD=15.98;ReadPosRankSum=0.598;VQSLOD=4.0204;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,14:23:99:398,0,275 19 55527081 55527081 C T exonic GP6 nonsynonymous SNV GP6:NM_001256017:exon6:c.G691A:p.A231T,GP6:NM_001083899:exon7:c.G745A:p.A249T,GP6:NM_016363:exon7:c.G745A:p.A249T 0.71 0.49 0.82 0.81 0.85 0.71 0.7895 0.5082 0.8340 0.8301 0.8736 0.8239 0.8307 0.7282 0.73 0.52 0.83 0.69 0.79 rs2304167 COSM3757227 1(large_intestine) Benign not_specified RCV000251969.1 MedGen CN169374 . . . . . . 0.984 0.090 T 0.004 0.334 B 0.009 0.239 B . . . 1 0.090 P 0.895 0.225 L 7.04 0.005 T -0.04 0.085 N 0.012 0.011 -0.891 0.488 T 0.000 0.000 T . . . 1.221 0.212 11.85 0.636 0.071 0.012 0.042 N c -1.879 -1.992 0.999 0.382 0.554 0.246 0 -6.29 0.018 -2.769 0.008 -0.536 0.048 0.000 0.063 0.005 0.090 4.484 0.111 . ENSG00000022556.11|ENSG00000088053.7|ENSG00000267265.1|ENSG00000267149.2|ENSG00000160439.11|ENSG00000267149.2|ENSG00000267265.1|ENSG00000160439.11|ENSG00000022556.11|ENSG00000267265.1 Adipose_Visceral_Omentum|Brain_Cerebellar_Hemisphere|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Whole_Blood|Whole_Blood 0.7970 0.5081 0.8294 0.7951 0.8345 0.8709 0.8249 0.8091 0.7279 0.7539 0.5199 0.8266 0.7351 0.8490 0.8697 0.8430 0.8408 het 405.64 33 19 55527081 . C T 405.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.524;DP=33;Dels=0.00;FS=7.829;HRun=0;HaplotypeScore=1.5810;MQ=58.86;MQ0=0;MQRankSum=-0.958;QD=12.29;ReadPosRankSum=1.356;VQSLOD=4.5383;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,15:33:99:436,0,434 19 55530035 55530035 C T exonic GP6 nonsynonymous SNV GP6:NM_001256017:exon5:c.G655A:p.E219K,GP6:NM_001083899:exon6:c.G709A:p.E237K,GP6:NM_016363:exon6:c.G709A:p.E237K 0.74 0.59 0.83 0.81 0.85 0.71 0.8008 0.6113 0.8424 0.8302 0.8744 0.8280 0.8311 0.7280 0.77 0.62 0.83 0.72 0.79 rs1654416 . . Benign not_specified RCV000246602.1 MedGen CN169374 . . . . . . 0.79 0.064 T 0.0 0.144 B 0.0 0.063 B . . . 1 0.090 P -1.445 0.006 N 7.12 0.005 T 0.58 0.046 N 0.055 0.037 -1.052 0.139 T 0.000 0.000 T . . . 0.120 0.105 3.822 0.539 0.049 0.002 0.013 N c -1.565 -1.579 1.000 0.517 0.554 0.246 0 -1.81 0.074 -0.136 0.103 0.064 0.169 0.000 0.063 0.001 0.043 5.423 0.156 . ENSG00000022556.11|ENSG00000267265.1|ENSG00000267149.2|ENSG00000160439.11|ENSG00000267149.2|ENSG00000267265.1|ENSG00000160439.11|ENSG00000022556.11|ENSG00000160439.11|ENSG00000022556.11|ENSG00000267265.1 Adipose_Visceral_Omentum|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.8065 0.6109 0.8368 0.7987 0.8336 0.8717 0.8286 0.8142 0.7286 0.7856 0.6273 0.8389 0.7450 0.8481 0.8706 0.8448 0.8462 het 2224.54 185 19 55530035 . C T 2224.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.579;DP=185;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.2260;MQ=59.05;MQ0=0;MQRankSum=1.251;QD=12.02;ReadPosRankSum=0.474;VQSLOD=4.5530;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,92:185:99:2255,0,2190 19 55538980 55538980 T C exonic GP6 synonymous SNV GP6:NM_001083899:exon4:c.A576G:p.S192S,GP6:NM_001256017:exon4:c.A576G:p.S192S,GP6:NM_016363:exon4:c.A576G:p.S192S 0.91 0.98 0.93 0.97 0.86 0.78 0.8648 0.9687 0.9460 0.9844 0.8855 0.8377 0.8747 0.7847 0.88 0.96 0.84 0.86 0.8 rs1654425 COSM1396470 1(thyroid) Benign not_specified RCV000250060.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8681 0.9696 0.9396 0.7981 0.9839 0.8837 0.8404 0.8550 0.7881 0.8995 0.9686 0.9199 0.7567 0.9834 0.8850 0.8565 0.8809 het 1641.67 111 19 55538980 . T C 1641.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.006;DP=111;Dels=0.00;FS=1.591;HRun=1;HaplotypeScore=4.8616;MQ=57.38;MQ0=0;MQRankSum=1.251;QD=14.79;ReadPosRankSum=1.208;VQSLOD=3.5227;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:47,64:111:99:1672,0,1246 19 55539061 55539061 A G exonic GP6 synonymous SNV GP6:NM_001083899:exon4:c.T495C:p.F165F,GP6:NM_001256017:exon4:c.T495C:p.F165F,GP6:NM_016363:exon4:c.T495C:p.F165F 0.73 0.57 0.82 0.81 0.84 0.71 0.7929 0.5899 0.8365 0.8307 0.8718 0.8188 0.8244 0.7253 0.75 0.6 0.82 0.72 0.72 rs892089 . . Benign not_specified RCV000242923.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7987 0.5880 0.8299 0.7845 0.8347 0.8693 0.8195 0.8060 0.7262 0.7734 0.6001 0.8325 0.7351 0.8507 0.8673 0.8369 0.8415 het 1506.85 101 19 55539061 . A G 1506.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.812;DP=101;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.7750;MQ=59.08;MQ0=0;MQRankSum=-1.238;QD=14.92;ReadPosRankSum=-0.286;VQSLOD=4.7889;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,52:101:99:1537,0,1271 19 55539072 55539072 T G exonic GP6 synonymous SNV GP6:NM_001083899:exon4:c.A484C:p.R162R,GP6:NM_001256017:exon4:c.A484C:p.R162R,GP6:NM_016363:exon4:c.A484C:p.R162R 0.84 0.75 0.91 0.97 0.85 0.78 0.8470 0.7650 0.9351 0.9843 0.8855 0.8373 0.8722 0.7846 0.82 0.77 0.84 0.8 0.75 rs892090 . . Benign not_specified RCV000250940.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8531 0.7647 0.9275 0.7980 0.9838 0.8836 0.8399 0.8445 0.7875 0.8445 0.7778 0.9079 0.7550 0.9833 0.8851 0.8554 0.8724 het 1406.76 102 19 55539072 . T G 1406.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.394;DP=102;Dels=0.00;FS=0.758;HRun=1;HaplotypeScore=1.5757;MQ=58.63;MQ0=0;MQRankSum=-0.328;QD=13.79;ReadPosRankSum=-0.315;VQSLOD=6.2040;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,53:102:99:1437,0,1357 19 55559715 55559715 G A exonic RDH13 synonymous SNV RDH13:NM_001145971:exon5:c.C640T:p.L214L,RDH13:NM_138412:exon6:c.C427T:p.L143L 0.31 0.28 0.22 0.46 0.25 0.34 0.2890 0.2733 0.2840 0.4551 0.2518 0.2591 0.3076 0.3492 0.25 0.26 0.25 0.24 0.25 rs2305543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2849 0.2695 0.2740 0.2536 0.4586 0.2528 0.2571 0.2687 0.3441 0.2719 0.2824 0.2768 0.2417 0.4696 0.2542 0.2497 0.2628 het 1521.84 95 19 55559715 . G A 1521.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.246;DP=95;Dels=0.00;FS=1.819;HRun=1;HaplotypeScore=2.4408;MQ=59.51;MQ0=0;MQRankSum=-0.921;QD=16.02;ReadPosRankSum=0.019;VQSLOD=6.2347;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,56:95:99:1552,0,1016 19 55570574 55570574 A G exonic RDH13 synonymous SNV RDH13:NM_001145971:exon2:c.T135C:p.G45G 0.86 0.8 0.89 0.97 0.85 0.81 0.8629 0.8111 0.9058 0.9845 0.9142 0.8523 0.875 0.8184 0.83 0.79 0.84 0.88 . rs1654447 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8593 0.8022 0.8963 0.7790 0.9831 0.9034 0.8475 0.8550 0.8113 0.8582 0.8066 0.8842 0.7417 0.9839 0.9030 0.8638 0.8773 hom 502.23 19 19 55570574 . A G 502.23 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.43;VQSLOD=12.9940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:48.12:535,48,0 19 55598724 55598724 A G exonic EPS8L1 nonsynonymous SNV EPS8L1:NM_017729:exon14:c.A1625G:p.K542R,EPS8L1:NM_133180:exon19:c.A2006G:p.K669R 0.47 0.34 0.46 0.45 0.51 0.62 0.4983 0.3737 0.4570 0.4483 0.5368 0.4928 0.5296 0.6307 0.45 0.36 0.49 0.39 0.47 rs1054940 COSM1481526;COSM440334 1(thyroid);4(large_intestine) . . . . . . . . . . . 0.086 0.481 T 1.0 0.899 D 0.998 0.875 D 0.000 0.537 D 0.000 0.810 P 2.845 0.829 M 1.81 0.252 T -2.32 0.531 N 0.148 0.207 -0.883 0.496 T 0.000 0.000 T . . . 6.730 0.919 32 0.998 0.923 0.860 0.449 D c 0.422 0.391 1.000 0.747 0.726 0.872 0 4.02 0.458 5.551 0.668 1.024 0.645 1.000 0.715 0.999 0.750 11.493 0.495 SH3 domain . . 0.4945 0.3593 0.4542 0.5093 0.4482 0.5203 0.4874 0.4851 0.6337 0.4482 0.3478 0.4415 0.5265 0.4366 0.5172 0.4877 0.4928 hom 2054.08 61 19 55598724 . A G 2054.08 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=33.67;VQSLOD=9.8124;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:2087,169,0 19 55614923 55614923 T C exonic PPP1R12C synonymous SNV PPP1R12C:NM_001271618:exon4:c.A585G:p.E195E,PPP1R12C:NM_017607:exon4:c.A585G:p.E195E 0.68 0.91 0.51 0.75 0.41 0.7 0.5331 0.8716 0.5141 0.7740 0.4874 0.4280 0.5159 0.6531 0.57 0.86 0.42 0.83 0.42 rs2532060 COSM4132573 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5244 0.8744 0.5228 0.4417 0.7789 0.4862 0.4230 0.5059 0.6424 0.5696 0.8597 0.5119 0.4172 0.7766 0.4773 0.4114 0.4825 hom 2512.96 84 19 55614923 . T C 2512.96 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;QD=29.92;VQSLOD=9.2023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2546,193,0 19 55624113 55624113 G A exonic PPP1R12C synonymous SNV PPP1R12C:NM_001271618:exon2:c.C372T:p.G124G,PPP1R12C:NM_017607:exon2:c.C372T:p.G124G 0.15 0.11 0.13 0.11 0.14 0.3 0.1504 0.1098 0.1851 0.1095 0.1788 0.1248 0.1386 0.2651 0.11 0.11 0.12 0.2 0.12 rs34521018 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1534 0.1096 0.1872 0.1749 0.1111 0.1681 0.1207 0.1329 0.2669 0.1287 0.1088 0.1483 0.1589 0.1077 0.1698 0.1299 0.1493 het 2009.83 150 19 55624113 . G A 2009.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.049;DP=150;Dels=0.00;FS=0.635;HRun=0;HaplotypeScore=4.1737;MQ=58.98;MQ0=0;MQRankSum=-0.454;QD=13.40;ReadPosRankSum=-0.769;VQSLOD=5.8809;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,81:150:99:2040,0,1673 19 55644325 55644325 A C exonic TNNT1 synonymous SNV TNNT1:NM_001126133:exon13:c.T714G:p.R238R,TNNT1:NM_001126132:exon14:c.T747G:p.R249R,TNNT1:NM_001291774:exon14:c.T714G:p.R238R,TNNT1:NM_003283:exon14:c.T795G:p.R265R 0.98 1. 0.97 0.93 0.99 1. 0.9892 0.9999 0.9483 0.9325 0.9855 0.9993 0.9926 0.9986 1. 1. 1. 1. 0.64 rs890868 . . not provided\x2cBenign not_provided\x2cnot_specified RCV000024552.1\x2cRCV000154008.3 MedGen\x2cMedGen CN221809\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9867 0.9998 0.9518 0.9999 0.9357 0.9846 0.9996 0.9920 0.9986 0.9922 0.9999 0.9547 1 0.9314 0.9831 0.9983 0.9939 hom 280.80 11 19 55644325 . A C 280.80 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;QD=25.53;VQSLOD=5.8797;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:24.08:314,24,0 19 55671337 55671337 C T exonic DNAAF3 nonsynonymous SNV DNAAF3:NM_001256714:exon10:c.G1294A:p.D432N,DNAAF3:NM_001256715:exon10:c.G1093A:p.D365N,DNAAF3:NM_001256716:exon10:c.G931A:p.D311N,DNAAF3:NM_178837:exon10:c.G1234A:p.D412N 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.55 1. rs890872 COSM4591439;COSM4591437;COSM4591438 23(upper_aerodigestive_tract) Likely benign|Likely benign|Likely benign|Likely benign Dilated_Cardiomyopathy\x2c_Recessive|Hypertrophic_cardiomyopathy|Familial_restrictive_cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome RCV000296348.1|RCV000311807.1|RCV000351311.1|RCV000394017.1 MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen CN239222|HP:0001639:C0007194:ORPHA217569|C0340429:ORPHA217635:233878008|CN239247 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3295.06 105 19 55671337 . C T 3295.06 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.85;MQ0=0;QD=31.38;VQSLOD=8.6691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3295,262,0 19 55671374 55671374 C T exonic DNAAF3 synonymous SNV DNAAF3:NM_001256714:exon10:c.G1257A:p.P419P,DNAAF3:NM_001256715:exon10:c.G1056A:p.P352P,DNAAF3:NM_001256716:exon10:c.G894A:p.P298P,DNAAF3:NM_178837:exon10:c.G1197A:p.P399P 0.33 0.64 0.17 0.24 0.17 0.29 0.2266 0.6015 0.1163 0.1963 0.1971 0.1840 0.2354 0.2800 0.29 0.56 0.17 0.25 0.16 rs891187 COSM4132579;COSM4132577;COSM4132578 1(thyroid) Benign\x2cBenign|Likely benign|Likely benign|Likely benign|Benign|Likely benign not_specified\x2cnot_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Recessive|Primary_ciliary_dyskinesia|Familial_restrictive_cardiomyopathy RCV000253991.1\x2cRCV000249248.1|RCV000306482.1|RCV000361081.1|RCV000366426.1|RCV000372059.1|RCV000399283.1 MedGen\x2cMedGen|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen:Orphanet|MedGen:Orphanet:SNOMED_CT CN169374\x2cCN169374|CN239247|HP:0001639:C0007194:ORPHA217569|CN239222|C0008780:ORPHA244|C0340429:ORPHA217635:233878008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2149 0.5994 0.1230 0.1792 0.1989 0.1950 0.1802 0.2273 0.2825 0.2946 0.5918 0.1392 0.1633 0.2296 0.1958 0.1683 0.2158 het 609.20 55 19 55671374 . C T 609.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.301;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=57.52;MQ0=0;MQRankSum=-1.227;QD=11.08;ReadPosRankSum=-1.924;VQSLOD=5.1060;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,24:55:99:639,0,741 19 55672784 55672784 A G exonic DNAAF3 synonymous SNV DNAAF3:NM_001256714:exon7:c.T870C:p.A290A,DNAAF3:NM_001256715:exon7:c.T666C:p.A222A,DNAAF3:NM_001256716:exon7:c.T504C:p.A168A,DNAAF3:NM_178837:exon7:c.T807C:p.A269A 0.23 0.52 0.15 0.091 0.14 0.11 0.1726 0.5029 0.1096 0.0796 0.1057 0.1619 0.1816 0.1513 0.23 0.43 0.14 0.22 0.16 rs7260320 COSM4132581;COSM4132582;COSM4132580 1(thyroid) Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Primary_ciliary_dyskinesia|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\x2c_Recessive|Familial_restrictive_cardiomyopathy RCV000251697.1|RCV000273438.1|RCV000290323.1|RCV000305744.1|RCV000345389.1|RCV000397867.1 MedGen|MedGen:Orphanet|MedGen|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0008780:ORPHA244|CN239247|HP:0001639:C0007194:ORPHA217569|CN239222|C0340429:ORPHA217635:233878008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1829 0.5122 0.1437 0.2949 0.0919 0.1049 0.1686 0.2131 0.1638 0.2400 0.5006 0.1414 0.2734 0.0937 0.1073 0.1446 0.1573 het 294.91 24 19 55672784 . A G 294.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.375;DP=24;Dels=0.00;FS=6.569;HRun=1;HaplotypeScore=1.6553;MQ=59.03;MQ0=0;MQRankSum=1.588;QD=12.29;ReadPosRankSum=-0.664;VQSLOD=4.7592;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:325,0,341 19 55693244 55693244 T C exonic PTPRH nonsynonymous SNV PTPRH:NM_001161440:exon18:c.A2692G:p.I898V,PTPRH:NM_002842:exon20:c.A3226G:p.I1076V 0.4 0.47 0.42 0.44 0.19 0.47 0.3099 0.4445 0.5204 0.4338 0.2206 0.2143 0.3161 0.4347 0.28 0.43 0.2 0.48 0.16 rs2288419 COSM4132583 1(thyroid) . . . . . . . . . . . 0.587 0.059 T 0.659 0.422 P 0.228 0.435 B 0.001 0.392 N 0.001 0.454 P 0.6 0.156 N 2.9 0.101 T -0.32 0.123 N 0.033 0.013 -1.024 0.223 T 0.000 0.000 T . . . 2.684 0.384 20.7 0.831 0.141 0.084 0.142 N c -0.635 -0.603 1.000 0.428 0.549 0.223 0 2.25 0.272 -0.220 0.091 0.122 0.211 0.000 0.063 0.977 0.480 6.251 0.199 PTP type protein phosphatase|Protein-tyrosine phosphatase-like ENSG00000167646.9|ENSG00000267577.1|ENSG00000129991.8|ENSG00000167646.9|ENSG00000129991.8|ENSG00000167646.9|ENSG00000267577.1|ENSG00000167646.9|ENSG00000267577.1|ENSG00000267577.1|ENSG00000105048.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Tibial|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3126 0.4397 0.5032 0.2873 0.4312 0.2194 0.2069 0.3115 0.4348 0.2895 0.4403 0.4272 0.3113 0.4366 0.2201 0.1946 0.2790 het 2439.29 172 19 55693244 . T C 2439.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.809;DP=172;Dels=0.00;FS=1.220;HRun=0;HaplotypeScore=2.7850;MQ=59.65;MQ0=0;MQRankSum=0.309;QD=14.18;ReadPosRankSum=0.955;VQSLOD=6.5048;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,94:172:99:2469,0,2174 19 55699454 55699454 T C exonic PTPRH nonsynonymous SNV PTPRH:NM_001161440:exon11:c.A1933G:p.K645E,PTPRH:NM_002842:exon13:c.A2467G:p.K823E 1. 1. 1. 1. 1. 1. 0.9998 1 1 0.9988 1 0.9999 1 0.9998 . . . 1. 1. rs890870 COSM4590180 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 1 1 0.9993 1 0.9999 1 0.9999 0.9999 1 1 1 0.9988 1 0.9999 1 hom 3436.60 110 19 55699454 . T C 3436.60 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5475;MQ=58.38;MQ0=0;QD=31.24;VQSLOD=8.8634;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:110:99:3436,274,0 19 55708557 55708557 A G exonic PTPRH synonymous SNV PTPRH:NM_001161440:exon7:c.T1384C:p.L462L,PTPRH:NM_002842:exon9:c.T1918C:p.L640L 0.68 0.86 0.72 0.41 0.66 0.7 0.6652 0.8398 0.7164 0.4140 0.6200 0.6634 0.6792 0.6753 0.72 0.83 0.66 0.71 0.71 rs2288521 COSM5654383 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6627 0.8424 0.7176 0.7068 0.4114 0.6329 0.6577 0.6822 0.6767 0.6812 0.8333 0.6969 0.7233 0.4200 0.6301 0.6338 0.6370 hom 3201.79 99 19 55708557 . A G 3201.79 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7955;MQ=59.30;MQ0=0;QD=32.34;VQSLOD=8.7887;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3235,253,0 19 55710074 55710074 G A exonic PTPRH nonsynonymous SNV PTPRH:NM_001161440:exon6:c.C1093T:p.L365F,PTPRH:NM_002842:exon8:c.C1627T:p.L543F 0.093 0.13 0.11 0.0099 0.12 0.089 0.0988 0.1308 0.0597 0.0021 0.1048 0.1149 0.0976 0.0896 0.12 0.14 0.12 0.098 0.098 rs16986309 COSM3757240 2(large_intestine) . . . . . . . . . . . 0.691 0.068 T 0.006 0.126 B 0.018 0.173 B . . . 1 0.090 P -0.425 0.029 N 0.65 0.527 T 1.55 0.023 N 0.343 0.404 -1.028 0.210 T 0.000 0.001 T . . . -1.854 0.010 0.002 0.757 0.108 0.000 0.002 N c -1.268 -1.310 0.002 0.094 0.554 0.283 0 -0.302 0.121 0.048 0.139 -0.169 0.106 0.000 0.063 0.001 0.043 1.631 0.025 Fibronectin type III|Immunoglobulin-like fold . . 0.0961 0.1335 0.0613 0.1222 0.0027 0.1049 0.1134 0.1031 0.0896 0.1066 0.1238 0.0907 0.1060 0.0012 0.1029 0.1102 0.1010 het 1358.11 87 19 55710074 . G A 1358.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.947;DP=87;Dels=0.00;FS=11.036;HRun=1;HaplotypeScore=3.8209;MQ=59.30;MQ0=0;MQRankSum=1.040;QD=15.61;ReadPosRankSum=0.167;VQSLOD=4.4369;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,49:87:99:1388,0,1009 19 55713535 55713535 G A exonic PTPRH nonsynonymous SNV PTPRH:NM_001161440:exon4:c.C508T:p.H170Y,PTPRH:NM_002842:exon6:c.C1042T:p.H348Y 0.57 0.79 0.59 0.42 0.49 0.51 0.4944 0.7278 0.6190 0.4140 0.4905 0.4555 0.4634 0.4635 0.55 0.72 0.46 0.47 0.4 rs2288515 COSM3757241 1(large_intestine) . . . . . . . . . . . 0.101 0.303 T 0.027 0.182 B 0.01 0.139 B . . . 1 0.090 P -0.46 0.027 N 0.4 0.573 T -0.82 0.334 N 0.09 0.088 -0.939 0.428 T 0.000 0.000 T . . . -0.583 0.051 0.137 0.805 0.128 0.023 0.065 N c -2.518 -2.463 0.557 0.214 0.554 0.283 0 -2.67 0.057 -2.522 0.010 -2.156 0.004 0.000 0.063 0.000 0.016 0.962 0.013 Fibronectin type III|Immunoglobulin-like fold . . 0.4933 0.7342 0.6090 0.4808 0.4130 0.5011 0.4468 0.4802 0.4619 0.5372 0.7353 0.5947 0.4901 0.4311 0.5112 0.4420 0.4641 hom 6442.96 218 19 55713535 . G A 6442.96 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-2.922;DP=218;Dels=0.00;FS=3.622;HRun=0;HaplotypeScore=4.6202;MQ=57.58;MQ0=4;MQRankSum=4.437;QD=29.55;ReadPosRankSum=-1.063;VQSLOD=2.2955;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:11,206:218:99:6288,391,0 19 55715319 55715319 C G exonic PTPRH synonymous SNV PTPRH:NM_002842:exon5:c.G717C:p.S239S 0.42 0.44 0.47 0.4 0.36 0.43 0.3793 0.4220 0.5503 0.4012 0.3824 0.3357 0.3502 0.3980 0.36 0.41 0.33 0.39 0.3 rs9304763 COSM3757244 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3843 0.4196 0.5379 0.3388 0.3991 0.3944 0.3303 0.3671 0.3970 0.3689 0.4141 0.4749 0.3642 0.4094 0.4012 0.3257 0.3551 het 2358.58 164 19 55715319 . C G 2358.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.384;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;MQRankSum=-1.056;QD=14.29;ReadPosRankSum=1.885;VQSLOD=5.4409;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,83:164:99:2389,0,1985 19 55715342 55715342 C T exonic PTPRH nonsynonymous SNV PTPRH:NM_002842:exon5:c.G694A:p.D232N 0.018 0.0038 0.011 0.001 0.028 0.049 0.0236 0.0080 0.0110 0.0003 0.0080 0.0276 0.0166 0.0449 0.023 0.0093 0.03 0.022 0.025 rs55870162 . . . . . . . . . . . . . 0.317 0.137 T 0.01 0.375 B 0.002 0.237 B 0.014 0.014 N 1 0.090 N 1.59 0.404 L 0.4 0.573 T -1.0 0.264 N 0.005 0.000 -1.072 0.090 T 0.029 0.125 T . . . 0.613 0.153 8.248 0.968 0.307 0.012 0.042 N c -1.267 -1.357 1.000 0.446 0.624 0.395 0 -2.09 0.068 -2.007 0.015 -1.160 0.017 0.000 0.063 0.000 0.016 5.788 0.175 Fibronectin type III|Immunoglobulin-like fold . . 0.0223 0.0080 0.0094 0.0225 0.0003 0.0075 0.0278 0.0204 0.0473 0.0170 0.0069 0.0215 0.0232 0 0.0077 0.0263 0.0193 het 1670.68 128 19 55715342 . C T 1670.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.774;DP=128;Dels=0.00;FS=10.284;HRun=1;HaplotypeScore=2.9314;MQ=59.85;MQ0=0;MQRankSum=0.848;QD=13.05;ReadPosRankSum=-1.095;VQSLOD=3.7051;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,59:128:99:1701,0,1773 19 55738634 55738634 T C exonic TMEM86B nonsynonymous SNV TMEM86B:NM_173804:exon3:c.A596G:p.H199R 0.92 0.99 0.96 0.88 0.91 0.82 0.9140 0.9847 0.9639 0.9116 0.9102 0.9121 0.9205 0.8438 0.93 0.98 0.9 0.96 0.78 rs4644955 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.491 N 1.000 0.090 P -1.345 0.007 N 2.17 0.190 T 2.11 0.004 N 0.072 0.061 -0.995 0.313 T 0.000 0.000 T . . . -2.020 0.008 0.001 0.554 0.052 0.032 0.081 N c -1.499 -1.355 1.000 0.480 0.646 0.450 0 -0.279 0.122 0.688 0.249 -0.423 0.059 0.047 0.211 0.010 0.111 7.370 0.258 . ENSG00000160439.11 Adipose_Subcutaneous 0.9138 0.9852 0.9590 0.9220 0.9134 0.9149 0.9105 0.9257 0.8354 0.9320 0.9836 0.9594 0.9238 0.9066 0.9186 0.9083 0.9059 hom 426.45 17 19 55738634 . T C 426.45 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.102;DP=17;Dels=0.00;FS=4.523;HRun=0;HaplotypeScore=0.0000;MQ=56.24;MQ0=0;MQRankSum=1.531;QD=25.09;ReadPosRankSum=1.327;VQSLOD=3.3980;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,16:17:12.50:459,12,0 19 55739689 55739689 G A exonic TMEM86B synonymous SNV TMEM86B:NM_173804:exon2:c.C168T:p.P56P 0.43 0.32 0.46 0.6 0.42 0.41 0.4237 0.3070 0.4561 0.6256 0.5251 0.4144 0.3974 0.3680 0.36 0.3 0.39 0.4 0.48 rs10413828 COSM3766441 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4232 0.3048 0.4557 0.3595 0.6269 0.5077 0.4047 0.4040 0.3628 0.4099 0.2943 0.4344 0.3576 0.6346 0.5031 0.4280 0.4519 het 626.69 46 19 55739689 . G A 626.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.249;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.088;QD=13.62;ReadPosRankSum=-1.786;VQSLOD=11.2953;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,25:46:99:657,0,540 19 55756980 55756980 A G exonic PPP6R1 synonymous SNV PPP6R1:NM_014931:exon3:c.T294C:p.A98A 0.2 0.064 0.27 0.11 0.34 0.3 0.2877 0.0991 0.2414 0.1104 0.2546 0.3331 0.3441 0.3465 0.26 0.1 0.34 0.16 . rs3745920 COSM440353;COSM5983417 1(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2855 0.0924 0.2439 0.3695 0.1069 0.2532 0.3341 0.3150 0.3413 0.2363 0.1101 0.3019 0.3377 0.1110 0.2521 0.3111 0.2788 het 418.09 36 19 55756980 . A G 418.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.325;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6006;MQ=60.00;MQ0=0;MQRankSum=-0.047;QD=11.61;ReadPosRankSum=1.946;VQSLOD=5.7961;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,18:36:99:448,0,503 19 55790886 55790886 - GCCGCCGCC exonic HSPBP1 nonframeshift insertion HSPBP1:NM_001297600:exon1:c.228_229insGGCGGCGGC:p.G76_S77insGGG,HSPBP1:NM_012267:exon2:c.90_91insGGCGGCGGC:p.G30_S31insGGG,HSPBP1:NM_001130106:exon3:c.90_91insGGCGGCGGC:p.G30_S31insGGG . . . . . . 0.5073 0.5593 0.6356 0.7842 0.4884 0.4625 0.4111 0.4303 0.3 0.34 0.29 . . rs3040014 COSM1396535 1(stomach);1(lung);4(large_intestine);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5034 0.5421 0.6235 0.3557 0.7920 0.4931 0.4597 0.4786 0.4236 0.5305 0.5583 0.5593 0.3333 0.8004 0.5270 0.4901 0.5042 het 596.73 20 19 55790886 . A AGCCGCCGCC 596.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.027;DP=20;FS=2.246;HRun=0;HaplotypeScore=199.2693;MQ=54.07;MQ0=0;MQRankSum=-2.202;QD=29.84;ReadPosRankSum=-1.027;set=variant2 GT:AD:DP:GQ:PL 0/1:12,7:20:99:636,0,541 19 55824332 55824332 T G exonic TMEM150B nonsynonymous SNV TMEM150B:NM_001085488:exon8:c.A597C:p.L199F,TMEM150B:NM_001282011:exon8:c.A597C:p.L199F 0.59 0.98 0.55 0.18 0.51 0.58 0.5291 0.9195 0.4995 0.1832 0.4681 0.5098 0.5418 0.5927 0.65 0.9 0.52 0.6 0.51 rs7246479 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.013 0.289 N 1 0.090 P -1.215 0.008 N 1.12 0.387 T 4.19 0.000 N 0.064 0.049 -0.896 0.484 T 0.000 0.000 T . . . -2.596 0.003 0.001 0.581 0.058 0.008 0.033 N c -2.444 -2.483 1.000 0.747 0.554 0.283 0 -9.11 0.006 -3.934 0.004 -4.476 0.000 0.000 0.063 0.000 0.016 2.838 0.051 . . . 0.5148 0.9220 0.4844 0.5965 0.1774 0.4539 0.5040 0.5210 0.5906 0.5903 0.9073 0.5420 0.6490 0.1584 0.4565 0.4918 0.4959 het 540.82 43 19 55824332 . T G 540.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.204;DP=43;Dels=0.00;FS=4.561;HRun=0;HaplotypeScore=5.0900;MQ=60.00;MQ0=0;MQRankSum=1.876;QD=12.58;ReadPosRankSum=-0.214;VQSLOD=4.3406;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,23:43:99:571,0,534 19 55879872 55879872 C T exonic IL11 synonymous SNV IL11:NM_001267718:exon2:c.G9A:p.A3A,IL11:NM_000641:exon3:c.G246A:p.A82A 0.39 0.023 0.45 0.71 0.47 0.46 0.4829 0.0852 0.5145 0.7269 0.5886 0.4931 0.4710 0.4826 0.34 0.095 0.47 0.3 0.3 rs1126757 COSM3757255 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4777 0.0732 0.5019 0.4094 0.7291 0.5677 0.4779 0.4678 0.4699 0.3935 0.0910 0.4700 0.3675 0.7169 0.5754 0.4835 0.4745 hom 602.71 21 19 55879872 . C T 602.71 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=28.70;VQSLOD=8.6966;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:48.15:636,48,0 19 55994240 55994240 C T exonic ZNF628 synonymous SNV ZNF628:NM_033113:exon3:c.C1680T:p.H560H 0.57 0.67 0.54 0.44 0.54 0.62 0.5606 0.6597 0.5106 0.4542 0.4818 0.5662 0.5173 0.6010 0.59 0.65 0.57 0.42 . rs12981044 COSM3749555;COSM3749554;COSM3749556 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5522 0.6640 0.5107 0.4860 0.4615 0.4693 0.5706 0.5472 0.6052 0.5789 0.6632 0.5276 0.4567 0.4406 0.4777 0.5754 0.5593 het 494.10 43 19 55994240 . C T 494.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.058;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=57.65;MQ0=0;MQRankSum=1.693;QD=11.49;ReadPosRankSum=0.935;VQSLOD=5.9738;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,19:43:99:524,0,695 19 55995272 55995272 G A exonic ZNF628 synonymous SNV ZNF628:NM_033113:exon3:c.G2712A:p.P904P 0.24 0.083 0.28 0.015 0.44 0.43 0.4368 0.1624 0.3337 0.0087 0.4888 0.5119 0.4540 0.4970 0.35 0.12 0.46 0.27 . rs11550705 COSM3757262;COSM3757260;COSM3757261 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3832 0.1304 0.2732 0.4824 0.0065 0.4225 0.4759 0.4122 0.4493 0.3381 0.1371 0.2955 0.4768 0.0062 0.4135 0.4686 0.4148 het 254.86 22 19 55995272 . G A 254.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.209;DP=22;Dels=0.00;FS=1.808;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=0.626;QD=11.58;ReadPosRankSum=-0.824;VQSLOD=5.7543;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,10:22:99:285,0,304 19 55998262 55998262 C T exonic NAT14 nonsynonymous SNV NAT14:NM_020378:exon3:c.C560T:p.A187V 0.11 0.039 0.14 0.017 0.22 0.16 0.3062 0.1424 0.2957 0.0360 0.3868 0.4047 0.2767 0.2020 0.15 0.056 0.19 0.087 0.033 rs77664073 . . . . . . . . . . . . . 0.708 0.041 T 0.002 0.090 B 0.001 0.040 B 0.390 0.133 N 0.844 0.286 P -0.69 0.019 N . . . -0.56 0.170 N 0.048 0.029 -1.057 0.125 T 0.000 0.000 T . . . 3.333 0.459 22.9 0.998 0.843 0.124 0.171 N c -0.728 -0.554 1.000 0.747 0.742 0.980 0 4.45 0.532 2.548 0.452 0.852 0.362 0.974 0.344 0.432 0.259 8.756 0.336 GNAT domain ENSG00000179954.10|ENSG00000090971.4|ENSG00000179954.10|ENSG00000179954.10|ENSG00000179954.10|ENSG00000090971.4 Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Thyroid|Thyroid 0.1702 0.0600 0.1020 0.3038 0.0117 0.1850 0.2183 0.1969 0.1765 0.1480 0.0677 0.1158 0.3054 0.0099 0.1809 0.2006 0.1518 het 190.26 17 19 55998262 . C T 190.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.070;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9989;MQ=53.10;MQ0=1;MQRankSum=0.423;QD=11.19;ReadPosRankSum=1.588;VQSLOD=4.1205;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:220,0,197 19 56041255 56041255 C G exonic SBK2 nonsynonymous SNV SBK2:NM_001101401:exon4:c.G892C:p.A298P 0.96 0.99 0.97 0.88 0.99 0.98 0.9751 0.9910 0.9562 0.8922 0.9909 0.9844 0.9815 0.9829 0.99 0.99 0.99 0.46 0.44 rs620251 COSM3749558;COSM3749559 19(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.003 0.102 B 0.003 0.080 B 0.000 0.497 N 1 0.090 P -0.595 0.022 N -0.16 0.654 T 3.81 0.001 N 0.066 0.052 -0.964 0.384 T 0.000 0.000 T . . . -0.984 0.033 0.017 0.468 0.037 0.013 0.045 N c -1.757 -1.700 0.916 0.265 0.701 0.575 0 0.193 0.144 0.376 0.201 0.039 0.154 0.000 0.063 0.020 0.134 2.476 0.043 Protein kinase domain|Protein kinase-like domain . . 0.9742 0.9909 0.9604 0.9863 0.8876 0.9881 0.9854 0.9812 0.9831 0.9833 0.9945 0.9617 0.9868 0.8863 0.9851 0.9880 0.9857 hom 445.32 14 19 56041255 . C G 445.32 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=31.81;VQSLOD=8.1107;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:478,39,0 19 56047448 56047448 A G exonic SBK2 nonsynonymous SNV SBK2:NM_001101401:exon2:c.T214C:p.C72R 0.92 0.97 0.92 0.85 0.91 0.93 0.9020 0.9538 0.9092 0.8746 0.8995 0.8949 0.9 0.9133 0.92 0.96 0.9 0.89 0.86 rs310453 . . . . . . . . . . . . . 0.726 0.038 T 0.0 0.026 B 0.0 0.013 B 0.008 0.310 N 0.006 0.420 P -0.335 0.035 N 0.84 0.475 T 1.86 0.005 N 0.064 0.049 -1.009 0.271 T 0.000 0.000 T . . . 1.109 0.201 11.27 0.770 0.113 0.189 0.202 N c -0.566 -0.426 0.998 0.369 0.718 0.821 0 4.44 0.530 3.365 0.518 0.130 0.216 1.000 0.715 0.749 0.321 7.419 0.261 Protein kinase domain|Protein kinase\x2c ATP binding site|Protein kinase-like domain . . 0.9055 0.9566 0.9109 0.8501 0.8801 0.9061 0.9011 0.9055 0.9167 0.9175 0.9571 0.9089 0.8444 0.8739 0.8997 0.9044 0.9302 hom 1418.13 50 19 56047448 . A G 1418.13 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;QD=28.36;VQSLOD=7.7423;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1451,123,0 19 56090076 56090076 G T exonic ZNF579 synonymous SNV ZNF579:NM_152600:exon2:c.C930A:p.A310A 0.24 0.23 0.27 0.075 0.24 0.38 0.2530 0.2490 0.2166 0.0766 0.2267 0.2484 0.2795 0.4151 0.23 0.23 0.23 0.11 0.12 rs34164618 COSM3749560 2(thyroid);7(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2413 0.2294 0.2182 0.3051 0.0738 0.2241 0.2340 0.2519 0.3813 0.2132 0.2176 0.2117 0.3709 0.0699 0.2252 0.2208 0.2041 het 302.49 24 19 56090076 . G T 302.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.165;DP=24;Dels=0.00;FS=1.808;HRun=0;HaplotypeScore=1.9134;MQ=57.85;MQ0=0;MQRankSum=-1.286;QD=12.60;ReadPosRankSum=-0.824;VQSLOD=3.7967;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,13:24:99:332,0,279 19 56104136 56104136 T C exonic FIZ1 nonsynonymous SNV FIZ1:NM_032836:exon3:c.A1171G:p.T391A 0.78 0.9 0.78 0.56 0.81 0.84 0.7981 0.8864 0.7124 0.5717 0.8446 0.8221 0.8138 0.8249 0.85 0.89 0.83 0.18 0.47 rs7247236 COSM3749561 1(thyroid);7(large_intestine) . . . . . . . . . . . 0.777 0.033 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.55 0.024 N 3.08 0.085 T 0.39 0.035 N 0.069 0.056 -1.053 0.136 T 0.000 0.000 T . . . -2.854 0.002 0.001 0.315 0.018 0.001 0.006 N c -1.690 -1.715 0.566 0.214 0.660 0.495 0 -2.05 0.069 -0.872 0.043 -0.459 0.055 0.000 0.063 0.000 0.016 0.408 0.004 . . . 0.7920 0.8859 0.7222 0.8037 0.5658 0.8400 0.8235 0.7926 0.8224 0.8189 0.8829 0.7131 0.8322 0.5458 0.8418 0.8120 0.8158 hom 448.60 17 19 56104136 . T C 448.60 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=26.39;VQSLOD=7.3028;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:42.10:482,42,0 19 56114045 56114045 C T exonic ZNF524 synonymous SNV ZNF524:NM_153219:exon2:c.C567T:p.H189H 0.53 0.39 0.47 0.63 0.53 0.65 0.5568 0.4718 0.4918 0.6942 0.5852 0.5306 0.5476 0.6476 0.46 0.4 0.49 0.5 0.28 rs1077806 COSM3749562 1(urinary_tract);1(liver);7(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5221 0.4169 0.4620 0.5184 0.6695 0.5411 0.4949 0.4998 0.6388 0.4832 0.4133 0.4532 0.5232 0.6452 0.5393 0.4942 0.4816 het 54.67 11 19 56114045 . C T 54.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.382;QD=4.97;ReadPosRankSum=-0.978;VQSLOD=8.8564;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,3:11:84.66:85,0,197 19 56114237 56114237 G A exonic ZNF524 synonymous SNV ZNF524:NM_153219:exon2:c.G759A:p.E253E 0.84 0.7 0.83 0.84 0.93 0.92 0.8934 0.7493 0.7690 0.8599 0.9558 0.9247 0.9167 0.9091 0.87 0.75 0.93 0.8 0.68 rs310459 COSM3933198 1(urinary_tract);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8836 0.7280 0.7596 0.8967 0.8459 0.9553 0.9250 0.8839 0.9079 0.8583 0.7228 0.7518 0.9040 0.8387 0.9527 0.9191 0.9090 hom 400.96 12 19 56114237 . G A 400.96 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=33.41;VQSLOD=8.8822;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:434,36,0 19 56162776 56162776 C T exonic CCDC106 synonymous SNV CCDC106:NM_013301:exon5:c.C441T:p.S147S 0.79 0.66 0.93 0.7 0.9 0.84 0.8773 0.7021 0.9511 0.7066 0.9387 0.9213 0.9086 0.8201 0.84 0.7 0.92 0.7 0.59 rs2287791 COSM1396634 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8812 0.6823 0.9476 0.9383 0.6876 0.9406 0.9178 0.9145 0.8162 0.8409 0.6798 0.9344 0.9305 0.6714 0.9381 0.9193 0.8986 hom 834.24 25 19 56162776 . C T 834.24 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.37;VQSLOD=13.9802;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:867,69,0 19 56180968 56180968 C T exonic U2AF2 synonymous SNV U2AF2:NM_001012478:exon11:c.C1191T:p.D397D,U2AF2:NM_007279:exon11:c.C1203T:p.D401D 0.78 0.63 0.92 0.69 0.9 0.84 0.8665 0.6674 0.9461 0.6811 0.9347 0.9122 0.8969 0.8197 0.83 0.67 0.91 0.7 0.93 rs617073 COSM1396639 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8748 0.6588 0.9439 0.9103 0.6806 0.9372 0.9113 0.9097 0.8207 0.8302 0.6557 0.9272 0.8940 0.6640 0.9364 0.9137 0.8906 hom 1920.89 66 19 56180968 . C T 1920.89 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.72;MQ0=0;QD=29.10;VQSLOD=8.7282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:66:99:1954,156,0 19 56206348 56206348 C A exonic EPN1 synonymous SNV EPN1:NM_013333:exon9:c.C1443A:p.G481G,EPN1:NM_001130071:exon10:c.C1779A:p.G593G,EPN1:NM_001130072:exon10:c.C1521A:p.G507G,EPN1:NM_001321263:exon10:c.C1518A:p.G506G het 231.59 14 19 56206348 . C A 231.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.386;DP=14;Dels=0.00;FS=2.522;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=2.083;QD=16.54;ReadPosRankSum=0.694;VQSLOD=3.2823;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,10:14:99:262,0,110 19 56241265 56241265 A G exonic NLRP9 synonymous SNV NLRP9:NM_176820:exon3:c.T1926C:p.L642L 1. 1. 1. 1. 1. 1. 1.0000 1 1 0.9994 1 1 1 0.9999 . . . 1. 1. rs193384 COSM4595209;COSM4595208 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 0.9999 1 0.9994 1 1 1 1.0000 1.0000 1 1 1 0.9994 1 1 1 hom 3994.21 130 19 56241265 . A G 3994.21 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8994;MQ=58.09;MQ0=0;QD=30.72;VQSLOD=7.3357;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3993,334,0 19 56307583 56307583 A G exonic NLRP11 synonymous SNV NLRP11:NM_001297743:exon5:c.T1908C:p.C636C,NLRP11:NM_145007:exon8:c.T2205C:p.C735C 0.67 0.72 0.76 0.67 0.72 0.5 0.6938 0.7306 0.7837 0.6581 0.7579 0.7167 0.6839 0.5085 0.72 0.73 0.71 0.63 0.7 rs2616940 COSM148756 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6979 0.7310 0.7761 0.6713 0.6573 0.7506 0.7189 0.6987 0.5129 0.7289 0.7274 0.7931 0.6867 0.6609 0.7592 0.7291 0.7012 hom 6843.42 205 19 56307583 . A G 6843.42 Mask AC=2;AF=1.00;AN=2;DP=205;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.7659;MQ=59.24;MQ0=0;QD=33.38;VQSLOD=4.8812;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6843,539,0 19 56320200 56320200 C T exonic NLRP11 synonymous SNV NLRP11:NM_001297743:exon2:c.G1479A:p.R493R,NLRP11:NM_145007:exon5:c.G1776A:p.R592R 0.14 0.17 0.15 0.25 0.067 0.033 0.0916 0.1554 0.2247 0.2225 0.1087 0.0517 0.0894 0.0440 0.082 0.15 0.046 0.16 0.033 rs16986626 COSM5426130 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0985 0.1628 0.2167 0.1060 0.2223 0.1137 0.0459 0.0938 0.0461 0.1008 0.1589 0.1830 0.1258 0.2184 0.1206 0.0464 0.0745 het 1462.54 133 19 56320200 . C T 1462.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.480;DP=133;Dels=0.00;FS=6.553;HRun=1;HaplotypeScore=3.5518;MQ=59.25;MQ0=0;MQRankSum=0.624;QD=11.00;ReadPosRankSum=0.987;VQSLOD=4.9957;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,58:133:99:1493,0,2105 19 56321414 56321414 C A exonic NLRP11 nonsynonymous SNV NLRP11:NM_001297743:exon2:c.G265T:p.A89S,NLRP11:NM_145007:exon5:c.G562T:p.A188S 0.98 1. 0.96 1. 0.93 0.99 0.9559 0.9884 0.9761 1 0.9419 0.9370 0.9626 0.9797 0.95 0.99 0.93 0.97 0.97 rs299163 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -0.835 0.015 N -1.14 0.779 T . . . 0.06 0.044 -0.984 0.340 T 0.000 0.000 T . . . -1.161 0.026 0.008 0.258 0.012 0.000 0.004 N c -1.861 -1.850 0.726 0.230 0.487 0.133 0 0.306 0.150 1.235 0.321 -1.230 0.015 0.001 0.137 0.001 0.043 9.495 0.380 DAPIN domain|Death-like domain;NACHT nucleoside triphosphatase . . 0.9568 0.9897 0.9742 0.9570 0.9998 0.9468 0.9359 0.9520 0.9807 0.9528 0.9912 0.9714 0.9503 1 0.9362 0.9286 0.9481 hom 2064.91 64 19 56321414 . C A 2064.91 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=32.26;VQSLOD=9.2581;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2098,169,0 19 56369314 56369314 G A exonic NLRP4 synonymous SNV NLRP4:NM_134444:exon3:c.G555A:p.T185T 0.25 0.32 0.27 0.24 0.26 0.12 0.2364 0.3222 0.2584 0.2270 0.2031 0.2509 0.2379 0.1268 0.28 0.33 0.26 0.22 0.25 rs16986718 COSM4000977;COSM1396696 4(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2356 0.3181 0.2610 0.2056 0.2247 0.2054 0.2570 0.2606 0.1228 0.2532 0.3110 0.2273 0.2086 0.2299 0.1979 0.2411 0.1965 het 2765.20 203 19 56369314 . G A 2765.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.295;DP=203;Dels=0.00;FS=0.522;HRun=0;HaplotypeScore=1.4679;MQ=58.19;MQ0=0;MQRankSum=1.124;QD=13.62;ReadPosRankSum=-0.008;VQSLOD=5.6636;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:95,108:203:99:2795,0,2381 19 56388527 56388527 T A exonic NLRP4 synonymous SNV NLRP4:NM_134444:exon8:c.T2691A:p.I897I 0.011 0.0023 0.017 . 0.033 0.0061 0.0233 0.0055 0.0128 0.0002 0.0118 0.0358 0.0232 0.0081 0.026 0.0061 0.036 . 0.049 rs117456828 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0222 0.0048 0.0137 0.0509 0.0002 0.0121 0.0339 0.0280 0.0074 0.0202 0.0050 0.0239 0.0530 0 0.0129 0.0319 0.0235 het 1221.88 110 19 56388527 . T A 1221.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.551;DP=110;Dels=0.00;FS=0.793;HRun=0;HaplotypeScore=2.8715;MQ=59.24;MQ0=0;MQRankSum=-0.135;QD=11.11;ReadPosRankSum=1.206;VQSLOD=5.6702;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,52:110:99:1252,0,1407 19 56413532 56413532 G A exonic NLRP13 synonymous SNV NLRP13:NM_001321057:exon9:c.C2658T:p.H886H,NLRP13:NM_176810:exon9:c.C2658T:p.H886H 0.15 0.029 0.18 0.046 0.28 0.26 0.2352 0.0584 0.1770 0.0292 0.3271 0.2795 0.2588 0.2781 0.2 0.066 0.27 0.16 0.31 rs7258847 COSM3757283 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2367 0.0567 0.1772 0.2915 0.0286 0.3386 0.2749 0.2341 0.2790 0.2126 0.0663 0.1794 0.3 0.0229 0.3292 0.2871 0.2787 het 1050.61 99 19 56413532 . G A 1050.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.198;DP=99;Dels=0.00;FS=2.071;HRun=2;HaplotypeScore=3.6559;MQ=59.77;MQ0=0;MQRankSum=2.407;QD=10.61;ReadPosRankSum=1.572;VQSLOD=4.7639;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,40:99:99:1081,0,1771 19 56416409 56416409 G A exonic NLRP13 synonymous SNV NLRP13:NM_001321057:exon8:c.C2517T:p.H839H,NLRP13:NM_176810:exon8:c.C2517T:p.H839H 0.051 0.074 0.073 . 0.095 0.012 0.0681 0.0829 0.0490 0.0002 0.1025 0.0851 0.0958 0.0231 0.084 0.081 0.086 0.098 0.049 rs28506091 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0679 0.0812 0.0514 0.1138 0.0002 0.1012 0.0824 0.0863 0.0226 0.0793 0.0851 0.0634 0.1126 0 0.1075 0.0789 0.0684 het 700.30 74 19 56416409 . G A 700.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.792;DP=74;Dels=0.00;FS=2.002;HRun=0;HaplotypeScore=0.8667;MQ=59.50;MQ0=0;MQRankSum=0.485;QD=9.46;ReadPosRankSum=0.552;VQSLOD=5.9162;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,28:74:99:730,0,1192 19 56459342 56459342 C T exonic NLRP8 nonsynonymous SNV NLRP8:NM_001317000:exon1:c.C74T:p.P25L,NLRP8:NM_176811:exon1:c.C74T:p.P25L 0.72 0.73 0.76 0.81 0.6 0.72 0.6501 0.7187 0.7851 0.8006 0.6415 0.5866 0.6740 0.6923 0.63 0.71 0.58 0.69 0.64 rs306507 COSM3757287 1(large_intestine) . . . . . . . . . . . 0.778 0.033 T 0.795 0.428 P 0.126 0.311 B . . . 1 0.090 P 0 0.065 N -0.77 0.739 T -0.65 0.189 N 0.065 0.051 -0.903 0.477 T 0.000 0.000 T . . . 1.876 0.286 15.44 0.779 0.117 0.007 0.030 N c -1.307 -1.373 0.000 0.012 0.487 0.133 0 0.802 0.178 -0.435 0.069 -0.215 0.099 0.000 0.063 0.000 0.016 4.307 0.103 . . . 0.6563 0.7255 0.7770 0.5897 0.7999 0.6500 0.5859 0.6452 0.6933 0.6521 0.7277 0.7038 0.5993 0.7964 0.6486 0.5918 0.6487 het 2350.22 169 19 56459342 . C T 2350.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.612;DP=169;DS;Dels=0.00;FS=1.428;HRun=0;HaplotypeScore=1.8614;MQ=59.37;MQ0=0;MQRankSum=-0.599;QD=13.91;ReadPosRankSum=0.011;VQSLOD=6.6994;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,83:169:99:2380,0,2217 19 56459614 56459614 G C exonic NLRP8 nonsynonymous SNV NLRP8:NM_001317000:exon1:c.G346C:p.V116L,NLRP8:NM_176811:exon1:c.G346C:p.V116L 0.73 0.75 0.76 0.81 0.6 0.72 0.6520 0.7334 0.7863 0.8005 0.6414 0.5866 0.6796 0.6958 0.63 0.73 0.58 0.7 0.64 rs306506 COSM3757288 1(large_intestine) . . . . . . . . . . . 0.267 0.162 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P -1.245 0.008 N 0.4 0.573 T 0.53 0.028 N 0.031 0.012 -1.027 0.214 T 0.000 0.000 T . . . -1.376 0.020 0.004 0.126 0.002 0.000 0.001 N c -1.394 -1.400 0.000 0.012 0.487 0.133 0 1.19 0.200 -0.591 0.058 -0.692 0.038 0.000 0.063 0.000 0.016 3.560 0.074 DAPIN domain|Death-like domain . . 0.6574 0.7411 0.7781 0.5896 0.7997 0.6504 0.5852 0.6463 0.6936 0.6555 0.7404 0.7041 0.5967 0.7953 0.6485 0.5915 0.6506 het 1460.65 112 19 56459614 . G C 1460.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.007;DP=112;Dels=0.00;FS=1.502;HRun=0;HaplotypeScore=3.5764;MQ=59.46;MQ0=0;MQRankSum=-0.419;QD=13.04;ReadPosRankSum=-1.438;VQSLOD=5.1672;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1491,0,1384 19 56467375 56467375 C T exonic NLRP8 nonsynonymous SNV NLRP8:NM_001317000:exon3:c.C1951T:p.R651W,NLRP8:NM_176811:exon3:c.C1951T:p.R651W 0.096 0.13 0.06 0.069 0.083 0.12 0.0899 0.1211 0.0376 0.0877 0.0754 0.0841 0.0870 0.1371 0.093 0.12 0.081 0.065 0.082 rs41481648 COSM4000981 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.009 0.574 D 0.997 0.764 D 0.804 0.565 P . . . 1 0.090 P 0.895 0.225 L -2.36 0.882 D -2.41 0.529 N 0.144 0.169 -0.660 0.623 T 0.017 0.072 T . . . 2.918 0.411 21.9 0.989 0.472 0.002 0.009 N c -0.823 -1.121 0.000 0.041 0.487 0.133 0 -3.03 0.051 -2.175 0.013 -0.215 0.099 0.000 0.063 0.017 0.128 6.628 0.219 Leucine-rich repeat domain\x2c L domain-like . . 0.0858 0.1176 0.0400 0.1002 0.0842 0.0768 0.0818 0.0902 0.1363 0.0906 0.1144 0.0692 0.1167 0.0808 0.0729 0.0833 0.0813 het 2928.25 210 19 56467375 . C T 2928.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.328;DP=210;Dels=0.00;FS=2.459;HRun=0;HaplotypeScore=5.8275;MQ=59.76;MQ0=0;MQRankSum=-0.837;QD=13.94;ReadPosRankSum=-1.561;VQSLOD=4.2706;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,116:210:99:2958,0,2379 19 56477687 56477687 A G exonic NLRP8 synonymous SNV NLRP8:NM_001317000:exon5:c.A2322G:p.K774K,NLRP8:NM_176811:exon5:c.A2322G:p.K774K 0.87 0.97 0.82 0.89 0.77 0.87 0.8163 0.9530 0.7675 0.8941 0.8305 0.7756 0.8348 0.8814 0.83 0.95 0.77 0.88 0.87 rs306497 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8124 0.9572 0.7704 0.8192 0.8913 0.8357 0.7697 0.8032 0.8799 0.8464 0.9524 0.7950 0.8179 0.8646 0.8385 0.7890 0.8327 hom 4442.52 134 19 56477687 . A G 4442.52 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3278;MQ=59.31;MQ0=0;QD=33.15;VQSLOD=8.6389;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4442,346,0 19 56477710 56477710 T C exonic NLRP8 nonsynonymous SNV NLRP8:NM_001317000:exon5:c.T2345C:p.V782A,NLRP8:NM_176811:exon5:c.T2345C:p.V782A 0.66 0.77 0.63 0.69 0.52 0.63 0.5843 0.7595 0.6445 0.6936 0.5711 0.5203 0.6115 0.6372 0.59 0.75 0.51 0.67 0.55 rs306496 COSM3757290 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.03 0.081 N 0.76 0.499 T 2.43 0.003 N 0.065 0.051 -0.952 0.406 T 0.000 0.000 T . . . -1.460 0.018 0.003 0.135 0.003 0.000 0.001 N c -1.503 -1.486 0.000 0.012 0.487 0.133 0 1.82 0.241 0.031 0.135 -0.158 0.107 0.000 0.063 0.000 0.016 4.491 0.111 Leucine-rich repeat domain\x2c L domain-like . . 0.5855 0.7674 0.6351 0.6103 0.6881 0.5754 0.5155 0.5726 0.6392 0.6085 0.7564 0.6211 0.6291 0.6555 0.5624 0.5293 0.5726 hom 2905.90 106 19 56477710 . T C 2905.90 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8279;MQ=58.99;MQ0=0;QD=27.41;VQSLOD=7.6623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:2939,256,0 19 56487603 56487603 A G exonic NLRP8 nonsynonymous SNV NLRP8:NM_001317000:exon8:c.A2753G:p.K918R,NLRP8:NM_176811:exon8:c.A2810G:p.K937R 0.56 0.4 0.6 0.67 0.55 0.66 0.5763 0.4086 0.5967 0.6660 0.5939 0.5654 0.5826 0.6576 0.51 0.41 0.56 0.45 0.59 rs306481 COSM3757291 1(large_intestine) . . . . . . . . . . . 0.662 0.047 T 0.007 0.165 B 0.018 0.205 B . . . 1 0.090 P 0.345 0.112 N -0.02 0.629 T -0.49 0.156 N 0.016 0.003 -0.952 0.407 T 0.000 0.000 T . . . -2.129 0.006 0.001 0.228 0.009 0.005 0.023 N c -1.671 -1.756 0.000 0.054 0.487 0.133 0 -5.02 0.027 -1.002 0.038 -0.024 0.128 0.000 0.063 0.001 0.043 2.550 0.044 Leucine-rich repeat domain\x2c L domain-like . . 0.5784 0.4049 0.5941 0.5545 0.6575 0.5959 0.5623 0.5735 0.6574 0.5412 0.4101 0.5885 0.55 0.6391 0.5964 0.5880 0.5900 het 866.90 91 19 56487603 . A G 866.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.316;DP=91;Dels=0.00;FS=8.861;HRun=2;HaplotypeScore=1.9960;MQ=59.34;MQ0=0;MQRankSum=0.706;QD=9.53;ReadPosRankSum=0.590;VQSLOD=4.6363;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,33:91:99:897,0,1587 19 56490778 56490778 C T exonic NLRP8 synonymous SNV NLRP8:NM_001317000:exon9:c.C2838T:p.F946F,NLRP8:NM_176811:exon9:c.C2895T:p.F965F 0.62 0.77 0.66 0.34 0.67 0.6 0.6346 0.7830 0.5187 0.3780 0.6889 0.6607 0.6553 0.6280 0.7 0.78 0.66 0.64 0.74 rs306475 COSM4416697 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6298 0.7873 0.5267 0.7109 0.3728 0.7001 0.6569 0.6414 0.6306 0.6841 0.7840 0.5716 0.7020 0.3838 0.6999 0.6607 0.6827 hom 5304.84 163 19 56490778 . C T 5304.84 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6071;MQ=59.86;MQ0=0;QD=32.55;VQSLOD=8.6474;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5304,436,0 19 56499279 56499279 G C exonic NLRP8 stoploss NLRP8:NM_001317000:exon10:c.G3090C:p.X1030Y,NLRP8:NM_176811:exon10:c.G3147C:p.X1049Y 0.72 0.72 0.78 0.62 0.74 0.79 0.7426 0.7254 0.7384 0.6522 0.8319 0.7379 0.7599 0.7858 0.73 0.73 0.74 0.67 0.8 rs306457 COSM5428606 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . -0.536 0.053 0.179 0.507 0.044 0.000 0.002 N c -0.670 -1.087 0.000 0.012 0.054 0.004 0 0.372 0.153 -1.258 0.030 -2.050 0.005 0.000 0.063 0.000 0.016 7.840 0.284 . . . 0.7457 0.7268 0.7400 0.7499 0.6542 0.8384 0.7346 0.7366 0.7861 0.7545 0.7352 0.7584 0.7351 0.6547 0.8440 0.7528 0.7984 het 928.85 86 19 56499279 . G C 928.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.109;DP=86;Dels=0.00;FS=10.732;HRun=0;HaplotypeScore=0.0000;MQ=59.73;MQ0=0;MQRankSum=1.518;QD=10.80;ReadPosRankSum=0.147;VQSLOD=3.9609;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,39:86:99:959,0,1223 19 56538832 56538832 C T exonic NLRP5 synonymous SNV NLRP5:NM_153447:exon7:c.C1233T:p.D411D 0.042 0.07 0.073 . 0.062 0.0051 0.0480 0.0747 0.0455 0 0.0859 0.0558 0.0584 0.0113 0.059 0.071 0.053 0.098 . rs1808663 COSM1631109 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0494 0.0690 0.0482 0.0874 0 0.0864 0.0536 0.0721 0.0107 0.0587 0.0718 0.0453 0.0993 0 0.0870 0.0512 0.0530 het 951.18 78 19 56538832 . C T 951.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.432;DP=78;Dels=0.00;FS=7.802;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.607;QD=12.19;ReadPosRankSum=1.249;VQSLOD=4.1855;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,37:78:99:981,0,1014 19 56543982 56543982 G T exonic NLRP5 nonsynonymous SNV NLRP5:NM_153447:exon8:c.G2282T:p.R761L 0.013 0.0008 0.02 . 0.048 0.0041 0.0281 0.0060 0.0255 0 0.0694 0.0363 0.0273 0.0076 0.026 0.0079 0.034 0.022 . rs17713875 . . . . . . . . . . . . . 0.296 0.147 T 0.029 0.185 B 0.018 0.173 B 0.385 0.044 N 1 0.090 N 0.6 0.156 N -2.4 0.885 D -1.12 0.289 N 0.048 0.029 -0.769 0.569 T 0.120 0.418 T . . . -0.184 0.077 1.185 0.789 0.121 0.008 0.032 N c -1.654 -1.793 0.009 0.118 0.487 0.133 0 -7.36 0.013 -0.584 0.058 -3.352 0.001 0.000 0.063 0.000 0.016 3.491 0.071 Leucine-rich repeat domain\x2c L domain-like . . 0.0291 0.0053 0.0260 0.0261 0 0.0675 0.0361 0.0361 0.0071 0.0277 0.0071 0.0179 0.02 0 0.0661 0.0339 0.0346 het 461.90 44 19 56543982 . G T 461.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.336;DP=44;Dels=0.00;FS=5.299;HRun=0;HaplotypeScore=1.7900;MQ=59.01;MQ0=0;MQRankSum=-1.137;QD=10.50;ReadPosRankSum=0.592;VQSLOD=5.1751;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,19:44:99:492,0,644 19 56549510 56549510 T C exonic NLRP5 nonsynonymous SNV NLRP5:NM_153447:exon10:c.T2735C:p.M912T 0.27 0.45 0.14 0.3 0.19 0.15 0.1994 0.4019 0.1617 0.2893 0.1908 0.1756 0.1822 0.1593 0.24 0.39 0.17 0.33 . rs16986899 COSM148766;COSM3927750 1(stomach);5(prostate) . . . . . . . . . . . 0.377 0.113 T 0.0 0.026 B 0.0 0.013 B 0.822 0.069 N 1 0.090 P 0.065 0.083 N 0.69 0.517 T 0.14 0.054 N 0.013 0.002 -0.955 0.402 T 0.000 0.000 T . . . -1.376 0.020 0.004 0.207 0.008 0.002 0.012 N c -1.710 -1.731 0.000 0.066 0.487 0.133 0 -3.09 0.050 -0.908 0.041 -0.438 0.057 0.000 0.063 0.000 0.016 2.295 0.039 Leucine-rich repeat domain\x2c L domain-like . . 0.1961 0.4086 0.1657 0.2129 0.2873 0.1921 0.1720 0.1842 0.1584 0.2452 0.4028 0.2017 0.2152 0.2787 0.1925 0.1694 0.1888 het 2177.98 191 19 56549510 . T C 2177.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.597;DP=191;Dels=0.00;FS=4.315;HRun=0;HaplotypeScore=4.5667;MQ=59.39;MQ0=0;MQRankSum=0.733;QD=11.40;ReadPosRankSum=-0.812;VQSLOD=5.2124;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:102,89:191:99:2208,0,2761 19 56549532 56549532 A G exonic NLRP5 synonymous SNV NLRP5:NM_153447:exon10:c.A2757G:p.R919R 0.3 0.48 0.18 0.3 0.24 0.22 0.2497 0.4377 0.1810 0.2898 0.2622 0.2345 0.23 0.2232 0.29 0.42 0.22 0.36 . rs306447 COSM148767 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2450 0.4435 0.1886 0.2468 0.2872 0.2614 0.2315 0.2341 0.2217 0.3047 0.4387 0.2321 0.2318 0.2804 0.2629 0.2482 0.2536 het 2689.57 225 19 56549532 . A G 2689.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.008;DP=225;Dels=0.00;FS=3.750;HRun=1;HaplotypeScore=2.3293;MQ=59.40;MQ0=0;MQRankSum=0.605;QD=11.95;ReadPosRankSum=0.010;VQSLOD=6.4828;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:119,106:225:99:2720,0,3238 19 56565127 56565127 G A exonic NLRP5 synonymous SNV NLRP5:NM_153447:exon13:c.G3252A:p.A1084A 0.093 0.027 0.11 0.015 0.23 0.11 0.1531 0.0474 0.0791 0.0208 0.1687 0.2038 0.1581 0.1254 0.15 0.047 0.21 0.076 . rs392801 COSM3757293 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1511 0.0434 0.0848 0.1942 0.0221 0.1644 0.2059 0.1681 0.1240 0.1410 0.0478 0.1029 0.2219 0.0253 0.1623 0.2024 0.1551 het 1327.83 98 19 56565127 . G A 1327.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.017;DP=98;Dels=0.00;FS=3.692;HRun=0;HaplotypeScore=3.9930;MQ=59.19;MQ0=0;MQRankSum=-0.818;QD=13.55;ReadPosRankSum=1.621;VQSLOD=5.1022;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,51:98:99:1358,0,1142 19 56565164 56565164 G A exonic NLRP5 nonsynonymous SNV NLRP5:NM_153447:exon13:c.G3289A:p.A1097T 0.9 0.87 0.98 0.79 0.98 0.9 0.9523 0.8871 0.9854 0.7987 0.9832 0.9784 0.9722 0.9292 0.95 0.9 0.98 0.96 . rs3103057 COSM5445672 1(oesophagus) . . . . . . . . . . . 0.453 0.089 T 0.0 0.026 B 0.0 0.013 B 0.132 0.028 N 1 0.090 P -0.64 0.021 N 0.73 0.507 T 0.63 0.024 N 0.009 0.001 -0.962 0.388 T 0.000 0.000 T . . . -0.131 0.082 1.510 0.882 0.172 0.000 0.002 N c -1.484 -1.503 0.000 0.012 0.487 0.133 0 -1.69 0.077 -0.320 0.080 -0.459 0.055 0.000 0.063 0.000 0.016 8.330 0.312 Leucine-rich repeat domain\x2c L domain-like . . 0.9549 0.8861 0.9855 0.9868 0.7922 0.9841 0.9779 0.9673 0.9300 0.9432 0.8977 0.9856 0.9868 0.7723 0.9843 0.9736 0.9684 hom 2324.83 83 19 56565164 . G A 2324.83 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6640;MQ=58.74;MQ0=0;QD=28.01;VQSLOD=6.9669;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2358,190,0 19 56572832 56572832 G A exonic NLRP5 nonsynonymous SNV NLRP5:NM_153447:exon15:c.G3541A:p.V1181I 0.36 0.47 0.23 0.44 0.26 0.33 0.3004 0.4382 0.2902 0.4138 0.2229 0.2692 0.2811 0.3247 0.31 0.43 0.26 0.45 . rs10409555 COSM4000987 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.617 0.053 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.15 0.294 L -0.65 0.722 T 0.31 0.040 N 0.023 0.006 -1.097 0.044 T 0.000 0.000 T . . . -2.887 0.002 0.001 0.319 0.018 0.001 0.005 N c -2.530 -2.635 0.999 0.382 0.487 0.133 0 -6.66 0.016 -1.550 0.023 -1.858 0.006 0.000 0.063 0.000 0.016 8.169 0.302 . . . 0.2956 0.4425 0.2773 0.3162 0.4121 0.2289 0.2686 0.2790 0.3205 0.3143 0.4394 0.3210 0.3113 0.3866 0.2258 0.2585 0.2464 het 1924.64 178 19 56572832 . G A 1924.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.498;DP=178;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.2351;MQ=59.74;MQ0=0;MQRankSum=1.522;QD=10.81;ReadPosRankSum=0.656;VQSLOD=5.5063;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,72:178:99:1955,0,3131 19 56600103 56600103 G A exonic ZNF787 synonymous SNV ZNF787:NM_001002836:exon3:c.C438T:p.G146G 0.0004 0.0008 . . 0.001 . 0.0007 0.0003 0 0 0 0.0012 0 0 0.0005 0.0005 0.0006 . . rs200084389 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0004 6.792e-05 0 0 0 0 0.0009 0.0002 0 0.0002 0 0 0 0 0.0006 0.0003 0 het 983.32 104 19 56600103 . G A 983.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.762;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6508;MQ=59.08;MQ0=1;MQRankSum=0.195;QD=9.46;ReadPosRankSum=-0.174;VQSLOD=4.0593;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,46:104:99:1013,0,1361 19 56693620 56693620 C G exonic GALP nonsynonymous SNV GALP:NM_033106:exon4:c.C216G:p.I72M 0.33 0.34 0.34 0.23 0.37 0.35 0.3435 0.3419 0.3286 0.2168 0.3199 0.3639 0.2980 0.3510 0.35 0.34 0.36 0.32 0.22 rs3745833 COSM1751181 2(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.905 0.479 P 0.599 0.489 P . . . 0.964 0.588 P 0.895 0.225 L 0.46 0.563 T -1.15 0.295 N 0.055 0.037 -1.050 0.144 T 0.000 0.000 T . . . 1.410 0.232 12.84 0.982 0.386 0.013 0.044 N c -0.764 -0.967 0.000 0.035 0.487 0.133 0 -2.37 0.062 -0.023 0.123 -1.665 0.008 0.587 0.274 0.058 0.169 0.128 0.001 . . . 0.3391 0.3414 0.3265 0.3149 0.2176 0.3154 0.3635 0.3412 0.3558 0.3422 0.3398 0.3242 0.2881 0.2122 0.3230 0.3641 0.3429 het 1916.88 113 19 56693620 . C G 1916.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.053;DP=113;Dels=0.00;FS=1.091;HRun=2;HaplotypeScore=0.9789;MQ=59.39;MQ0=0;MQRankSum=0.370;QD=16.96;ReadPosRankSum=1.366;VQSLOD=5.3823;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,66:113:99:1947,0,1086 19 56703248 56703248 G A exonic ZSCAN5B nonsynonymous SNV ZSCAN5B:NM_001080456:exon2:c.C559T:p.P187S 0.25 0.19 0.2 0.28 0.29 0.26 0.2872 0.2071 0.2092 0.2926 0.2719 0.3135 0.2605 0.2903 0.28 0.2 0.31 0.23 . rs527025 COSM3757294;COSM3757295 3(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.152 0.244 T 1.0 0.899 D 0.996 0.832 D . . . 1 0.090 P 2.71 0.795 M 3.3 0.064 T -2.86 0.601 D 0.046 0.026 -1.028 0.210 T 0.000 0.000 T . . . 1.286 0.219 12.20 0.989 0.483 0.004 0.019 N c -0.473 -0.833 0.000 0.012 0.487 0.133 0 -2.51 0.060 0.050 0.139 -0.082 0.119 0.026 0.200 0.001 0.043 3.894 0.086 . . . 0.2847 0.2029 0.2110 0.3011 0.2931 0.2829 0.3149 0.2802 0.2888 0.2826 0.2074 0.2266 0.3046 0.2919 0.2700 0.3298 0.3020 het 1073.14 76 19 56703248 . G A 1073.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.274;DP=76;Dels=0.00;FS=0.898;HRun=0;HaplotypeScore=1.8932;MQ=59.26;MQ0=0;MQRankSum=1.765;QD=14.12;ReadPosRankSum=-1.797;VQSLOD=5.0646;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,45:76:99:1103,0,795 19 56895496 56895496 C T exonic ZNF582 synonymous SNV ZNF582:NM_001320371:exon5:c.G1383A:p.K461K,ZNF582:NM_144690:exon5:c.G1290A:p.K430K 0.16 0.1 0.097 0.31 0.14 0.14 0.1513 0.1043 0.1705 0.3034 0.1524 0.1310 0.1438 0.1699 0.12 0.11 0.13 0.17 0.12 rs12978696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1511 0.1015 0.1621 0.1527 0.3058 0.1530 0.1267 0.1397 0.1656 0.1314 0.1009 0.1439 0.1722 0.3171 0.1554 0.1224 0.1255 het 1921.73 114 19 56895496 . C T 1921.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.195;DP=114;Dels=0.00;FS=0.728;HRun=2;HaplotypeScore=7.2147;MQ=59.15;MQ0=0;MQRankSum=0.452;QD=16.86;ReadPosRankSum=1.133;VQSLOD=3.9971;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,65:114:99:1952,0,1281 19 56953963 56953963 G A exonic ZNF667 nonsynonymous SNV ZNF667:NM_022103:exon5:c.C401T:p.P134L,ZNF667:NM_001321355:exon6:c.C230T:p.P77L,ZNF667:NM_001321356:exon7:c.C401T:p.P134L 0.31 0.28 0.35 0.13 0.47 0.34 0.4057 0.2988 0.3286 0.1188 0.3797 0.4783 0.4216 0.3932 0.41 0.3 0.47 0.27 0.43 rs35914474 COSM4154374;COSM4154373 1(kidney) . . . . . . . . . . . 0.205 0.200 T 0.001 0.067 B 0.001 0.040 B 0.162 0.030 N 1 0.090 P 0.505 0.135 N 3.43 0.145 T -1.34 0.334 N 0.032 0.030 -0.902 0.478 T 0.000 0.000 T . . . 0.329 0.126 5.969 0.870 0.164 0.079 0.137 N c -1.042 -1.101 0.000 0.029 0.563 0.310 0 -2.34 0.063 -0.942 0.040 0.998 0.613 0.000 0.063 0.049 0.163 3.439 0.070 Zinc finger C2H2-type/integrase DNA-binding domain ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000166770.6|ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000267454.1|ENSG00000166770.6|ENSG00000267454.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.4038 0.2940 0.3365 0.5512 0.1183 0.3759 0.4770 0.4318 0.3946 0.3824 0.2996 0.3726 0.5762 0.0995 0.3819 0.4586 0.3727 hom 5047.94 172 19 56953963 . G A 5047.94 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=29.35;VQSLOD=8.4545;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5047,388,0 19 56954103 56954103 C A exonic ZNF667 synonymous SNV ZNF667:NM_022103:exon5:c.G261T:p.G87G,ZNF667:NM_001321355:exon6:c.G90T:p.G30G,ZNF667:NM_001321356:exon7:c.G261T:p.G87G 0.16 0.15 0.19 0.075 0.24 0.17 0.2002 0.1634 0.1548 0.0670 0.1965 0.2322 0.1995 0.2002 0.17 0.15 0.19 0.11 0.24 rs7253217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1935 0.1578 0.1598 0.2183 0.0664 0.1967 0.2280 0.2062 0.1797 0.1861 0.1577 0.1722 0.2384 0.0604 0.1878 0.2168 0.1663 het 954.75 100 19 56954103 . C A 954.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.150;DP=100;Dels=0.00;FS=0.839;HRun=1;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.667;QD=9.55;ReadPosRankSum=0.300;VQSLOD=6.2078;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,43:100:99:985,0,1513 19 57036653 57036653 G A exonic ZNF471 nonsynonymous SNV ZNF471:NM_001321768:exon4:c.G995A:p.G332D,ZNF471:NM_020813:exon5:c.G1217A:p.G406D 0.38 0.43 0.32 0.23 0.49 0.41 0.4146 0.4603 0.2026 0.2338 0.4512 0.4708 0.3974 0.3881 0.47 0.46 0.47 0.39 0.55 rs3752176 COSM3757297 1(large_intestine) . . . . . . . . . . . 0.454 0.089 T 0.002 0.090 B 0.001 0.040 B . . . 1 0.090 P -0.025 0.050 N 3.21 0.071 T 2.12 0.004 N 0.031 0.012 -0.947 0.415 T 0.000 0.000 T . . . 1.096 0.199 11.19 0.911 0.198 0.003 0.017 N c -1.086 -0.976 0.007 0.115 0.554 0.283 0 3.35 0.373 -2.128 0.014 0.117 0.209 0.000 0.063 0.619 0.292 3.229 0.063 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000269696.1|ENSG00000196263.3|ENSG00000198046.7|ENSG00000196263.3|ENSG00000196263.3|ENSG00000269696.1|ENSG00000196263.3|ENSG00000196263.3|ENSG00000196263.3|ENSG00000196263.3|ENSG00000269696.1|ENSG00000196263.3|ENSG00000269696.1|ENSG00000196263.3|ENSG00000269696.1|ENSG00000196263.3|ENSG00000269696.1|ENSG00000196263.3|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000196263.3|ENSG00000269696.1|ENSG00000196263.3|ENSG00000196263.3|ENSG00000196867.3|ENSG00000196263.3|ENSG00000269696.1|ENSG00000196263.3|ENSG00000196263.3|ENSG00000196263.3|ENSG00000196263.3|ENSG00000267224.1|ENSG00000196263.3|ENSG00000166770.6|ENSG00000196263.3|ENSG00000196263.3|ENSG00000269696.1|ENSG00000196263.3|ENSG00000196867.3|ENSG00000198046.7|ENSG00000269696.1|ENSG00000196263.3|ENSG00000269696.1|ENSG00000196263.3|ENSG00000196263.3|ENSG00000166770.6|ENSG00000196263.3|ENSG00000166770.6|ENSG00000269696.1|ENSG00000196263.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid 0.4058 0.4593 0.2282 0.3956 0.2278 0.4546 0.4750 0.4229 0.3868 0.4371 0.4517 0.2919 0.4338 0.2295 0.4296 0.4607 0.4405 het 1105.93 82 19 57036653 . G A 1105.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.975;DP=82;Dels=0.00;FS=5.957;HRun=0;HaplotypeScore=7.7769;MQ=59.44;MQ0=0;MQRankSum=0.107;QD=13.49;ReadPosRankSum=0.385;VQSLOD=4.6812;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,42:82:99:1136,0,1137 19 57036678 57036678 G A exonic ZNF471 synonymous SNV ZNF471:NM_001321768:exon4:c.G1020A:p.S340S,ZNF471:NM_020813:exon5:c.G1242A:p.S414S 0.19 0.18 0.18 0.18 0.21 0.22 0.1952 0.2079 0.1041 0.1847 0.1666 0.2135 0.1740 0.1954 0.21 0.21 0.22 0.21 0.23 rs3752177 COSM3757298 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1909 0.2083 0.1191 0.1879 0.1791 0.1672 0.2160 0.2037 0.1923 0.2010 0.2003 0.1504 0.1921 0.1846 0.1488 0.2162 0.2341 het 1087.02 81 19 57036678 . G A 1087.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.109;DP=81;Dels=0.00;FS=1.813;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;MQRankSum=-0.128;QD=13.42;ReadPosRankSum=-0.393;VQSLOD=5.9196;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,38:81:99:1117,0,1173 19 57050515 57050515 C G exonic ZFP28 nonsynonymous SNV ZFP28:NM_001308440:exon1:c.C128G:p.A43G,ZFP28:NM_020828:exon1:c.C128G:p.A43G 0.42 0.46 0.36 0.62 0.27 0.36 0.4126 0.5155 0.4810 0.6631 0.3536 0.3444 0.3724 0.4189 0.27 0.36 0.22 0.42 0.16 rs7258088 COSM440426 2(large_intestine) . . . . . . . . . . . 0.345 0.125 T 0.0 0.178 B 0.002 0.127 B 0.472 0.123 N 1 0.090 P 0.895 0.225 L 3.41 0.056 T -0.13 0.090 N 0.061 0.045 -1.031 0.201 T 0.000 0.000 T . . . 0.639 0.155 8.423 0.852 0.152 0.046 0.101 N c -1.307 -1.340 1.000 0.747 0.685 0.552 0 -1.5 0.082 -0.063 0.115 -0.704 0.037 0.000 0.063 0.177 0.212 5.693 0.170 . ENSG00000269696.1|ENSG00000269696.1|ENSG00000166770.6|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000196263.3|ENSG00000166770.6|ENSG00000269696.1|ENSG00000166770.6|ENSG00000269696.1|ENSG00000196263.3|ENSG00000196867.3|ENSG00000166770.6|ENSG00000196867.3 Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.3222 0.4246 0.3798 0.3022 0.6287 0.2133 0.2434 0.2930 0.3722 0.3231 0.4343 0.4036 0.3079 0.6304 0.2381 0.2427 0.2986 het 224.43 23 19 57050515 . C G 224.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.209;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.341;QD=9.76;ReadPosRankSum=-1.085;VQSLOD=10.5329;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,10:23:99:254,0,351 19 57058998 57058998 C G exonic ZFP28 nonsynonymous SNV ZFP28:NM_001308440:exon3:c.C422G:p.S141W,ZFP28:NM_020828:exon3:c.C422G:p.S141W 0.12 0.057 0.14 0.068 0.18 0.16 0.1560 0.0750 0.0854 0.0780 0.1481 0.1898 0.1534 0.1668 0.15 0.079 0.19 0.13 0.18 rs34136271 COSM3757299 1(large_intestine) . . . . . . . . . . . 0.106 0.296 T 0.99 0.615 D 0.923 0.641 D 0.006 0.324 N 1.000 0.090 P 3.015 0.864 M 3.95 0.034 T -3.78 0.715 D 0.392 0.452 -1.060 0.116 T 0.000 0.000 T . . . 4.524 0.606 24.3 0.983 0.392 0.415 0.264 N c -0.364 -0.588 0.309 0.193 0.696 0.573 0 1.65 0.229 0.638 0.242 -0.436 0.058 0.017 0.192 0.018 0.130 7.827 0.283 Krueppel-associated box ENSG00000196263.3|ENSG00000196263.3|ENSG00000196263.3|ENSG00000267224.1|ENSG00000196263.3|ENSG00000196867.3|ENSG00000197016.7|ENSG00000196263.3|ENSG00000198046.7|ENSG00000196263.3 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial|Thyroid 0.1521 0.0731 0.0959 0.1731 0.0775 0.1495 0.1909 0.1667 0.1489 0.1469 0.0801 0.1241 0.1722 0.0810 0.1306 0.1948 0.1865 het 1887.83 149 19 57058998 . C G 1887.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.358;DP=149;Dels=0.00;FS=7.430;HRun=1;HaplotypeScore=7.8842;MQ=59.57;MQ0=0;MQRankSum=0.853;QD=12.67;ReadPosRankSum=0.500;VQSLOD=3.7446;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,69:149:99:1918,0,1917 19 57066013 57066013 C T exonic ZFP28 nonsynonymous SNV ZFP28:NM_020828:exon8:c.C1859T:p.A620V 0.41 0.6 0.3 0.3 0.35 0.4 0.3522 0.5669 0.2453 0.2633 0.3130 0.3356 0.3370 0.4226 0.41 0.55 0.33 0.41 0.37 rs10409531 COSM148775 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.171 0.227 T 0.261 0.298 B 0.133 0.315 B 0.043 0.238 N 1 0.090 P 0.165 0.090 N 3.17 0.076 T -1.59 0.383 N 0.071 0.059 -1.010 0.268 T 0.000 0.000 T . . . 2.217 0.328 17.62 0.973 0.326 0.158 0.189 N c -0.753 -0.700 0.000 0.072 0.563 0.310 0 0.896 0.183 0.120 0.154 0.071 0.179 0.000 0.063 1.000 0.888 6.573 0.216 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000196867.3|ENSG00000196867.3|ENSG00000269696.1|ENSG00000196867.3 Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.3447 0.5660 0.2487 0.4302 0.2719 0.3194 0.3312 0.3457 0.4196 0.3845 0.5635 0.2392 0.4536 0.2667 0.3217 0.3191 0.3131 het 2118.54 165 19 57066013 . C T 2118.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.093;DP=165;Dels=0.00;FS=1.942;HRun=0;HaplotypeScore=0.9832;MQ=59.09;MQ0=0;MQRankSum=-0.396;QD=12.84;ReadPosRankSum=0.034;VQSLOD=6.6966;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,84:165:99:2149,0,2069 19 57085769 57085769 G C exonic ZNF470 nonsynonymous SNV ZNF470:NM_001001668:exon4:c.G67C:p.V23L 0.42 0.67 0.34 0.28 0.37 0.36 0.3680 0.6284 0.2548 0.2492 0.3318 0.3654 0.3568 0.3708 0.45 0.61 0.36 0.46 0.41 rs10421285 COSM148776 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.087 0.324 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 1.225 0.308 L 3.54 0.048 T -1.82 0.427 N 0.054 0.036 -0.995 0.314 T 0.000 0.000 T . . . 0.068 0.100 3.270 0.870 0.163 0.224 0.215 N c -0.980 -1.018 0.001 0.079 0.563 0.310 0 -3.06 0.050 0.762 0.260 -0.555 0.047 0.440 0.263 0.845 0.352 4.406 0.108 Krueppel-associated box ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000269696.1|ENSG00000196867.3|ENSG00000196867.3|ENSG00000269696.1|ENSG00000196867.3 Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.3589 0.6294 0.2568 0.4419 0.2577 0.3370 0.3620 0.3612 0.3702 0.4233 0.6285 0.2650 0.4735 0.2568 0.3402 0.3555 0.3258 het 1831.65 153 19 57085769 . G C 1831.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.929;DP=153;Dels=0.00;FS=1.291;HRun=0;HaplotypeScore=0.9973;MQ=59.00;MQ0=0;MQRankSum=-1.342;QD=11.97;ReadPosRankSum=0.361;VQSLOD=6.0861;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,73:153:99:1862,0,2171 19 57088850 57088850 T C exonic ZNF470 synonymous SNV ZNF470:NM_001001668:exon6:c.T1053C:p.D351D 0.29 0.14 0.34 0.38 0.39 0.27 0.3408 0.1765 0.3599 0.4247 0.3279 0.3696 0.3366 0.2759 0.31 0.18 0.37 0.24 0.38 rs3752180 COSM3757300 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3448 0.1766 0.3584 0.3342 0.4186 0.3273 0.3761 0.3532 0.2737 0.3154 0.1785 0.4139 0.3477 0.4123 0.3269 0.3715 0.3814 het 880.80 70 19 57088850 . T C 880.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.977;DP=70;Dels=0.00;FS=4.703;HRun=0;HaplotypeScore=0.7340;MQ=59.40;MQ0=0;MQRankSum=0.459;QD=12.58;ReadPosRankSum=-2.118;VQSLOD=5.5714;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,33:70:99:911,0,1069 19 57089050 57089050 C T exonic ZNF470 nonsynonymous SNV ZNF470:NM_001001668:exon6:c.C1253T:p.T418I 0.77 0.95 0.7 0.68 0.76 0.69 0.7313 0.9367 0.6216 0.6885 0.6663 0.7350 0.7148 0.7130 0.8 0.93 0.74 0.83 0.8 rs4801177 COSM1180616 2(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P 0.545 0.138 N 2.66 0.126 T 2.37 0.003 N 0.035 0.015 -0.963 0.387 T 0.000 0.000 T . . . -0.274 0.070 0.759 0.064 0.000 0.004 0.022 N c -1.090 -0.957 0.016 0.129 0.651 0.465 0 4.26 0.497 0.163 0.162 0.150 0.237 0.000 0.063 0.995 0.604 8.935 0.347 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000127903.12|ENSG00000197951.4|ENSG00000198046.7|ENSG00000269696.1|ENSG00000197951.4|ENSG00000197016.7|ENSG00000269696.1|ENSG00000196867.3|ENSG00000196867.3|ENSG00000198300.8|ENSG00000198046.7|ENSG00000269696.1|ENSG00000197016.7|ENSG00000197016.7|ENSG00000267454.1|ENSG00000197951.4|ENSG00000196867.3|ENSG00000197951.4|ENSG00000198046.7|ENSG00000166770.6|ENSG00000196867.3|ENSG00000197951.4|ENSG00000267454.1|ENSG00000198046.7|ENSG00000166770.6|ENSG00000269696.1|ENSG00000196867.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.7238 0.9413 0.6242 0.7855 0.6911 0.6730 0.7373 0.7312 0.7094 0.7789 0.9361 0.6874 0.8212 0.6776 0.6754 0.7297 0.7327 hom 2566.17 83 19 57089050 . C T 2566.17 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.53;MQ0=0;QD=30.92;VQSLOD=8.0331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2599,208,0 19 57132968 57132968 G A exonic ZNF71 nonsynonymous SNV ZNF71:NM_021216:exon3:c.G313A:p.V105I 0.25 0.32 0.25 0.27 0.19 0.21 0.2186 0.3055 0.3447 0.2643 0.1438 0.1836 0.2228 0.2226 0.23 0.31 0.18 0.3 0.09 rs2072501 COSM3757302 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.512 0.074 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P 0.57 0.153 N 1.82 0.250 T -0.14 0.092 N 0.011 0.001 -0.923 0.452 T 0.000 0.000 T . . . -0.889 0.036 0.027 0.486 0.040 0.040 0.094 N c -1.723 -1.732 0.000 0.070 0.706 0.609 0 -0.309 0.121 -1.173 0.032 -0.956 0.024 0.000 0.063 0.000 0.016 10.283 0.425 . . . 0.2182 0.3009 0.3311 0.1636 0.2631 0.1434 0.1848 0.2081 0.2236 0.2135 0.3055 0.2895 0.1325 0.2522 0.1478 0.1706 0.1806 het 1378.83 103 19 57132968 . G A 1378.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.820;DP=103;Dels=0.00;FS=2.683;HRun=0;HaplotypeScore=4.2401;MQ=59.78;MQ0=0;MQRankSum=-0.294;QD=13.39;ReadPosRankSum=0.894;VQSLOD=5.5847;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,52:103:99:1409,0,1309 19 57293394 57293394 A G exonic ZIM2 synonymous SNV ZIM2:NM_015363:exon9:c.T573C:p.S191S,ZIM2:NM_001146326:exon10:c.T573C:p.S191S,ZIM2:NM_001146327:exon10:c.T573C:p.S191S 0.75 0.68 0.8 0.66 0.76 0.86 0.7915 0.7125 0.8569 0.6609 0.7834 0.7952 0.7753 0.8533 0.77 0.71 0.8 0.73 0.76 rs2286751 COSM4000997 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7937 0.7120 0.8575 0.7931 0.6623 0.7800 0.7932 0.7861 0.8513 0.7607 0.7200 0.8206 0.8212 0.6840 0.7841 0.7812 0.7806 hom 8090.15 250 19 57293394 . A G 8090.15 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5756;MQ=58.80;MQ0=0;QD=32.36;VQSLOD=9.2642;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8089,632,0 19 57325083 57325083 C T exonic PEG3 nonsynonymous SNV PEG3:NM_001146186:exon7:c.G4727A:p.R1576H,PEG3:NM_001146184:exon9:c.G4727A:p.R1576H,PEG3:NM_001146185:exon9:c.G4349A:p.R1450H,PEG3:NM_001146187:exon9:c.G4355A:p.R1452H,PEG3:NM_006210:exon10:c.G4727A:p.R1576H 0.18 0.026 0.18 0.39 0.13 0.23 0.1646 0.0410 0.1549 0.3617 0.2082 0.1406 0.1810 0.2248 0.1 0.046 0.13 0.12 0.2 rs34051133 COSM148778;COSM148779 1(breast);1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.073 0.348 T 0.06 0.217 B 0.019 0.176 B 0.216 0.162 N . . . 0.99 0.251 L 0.63 0.531 T -1.95 0.452 N 0.051 0.103 -0.975 0.361 T 0.000 0.000 T . . . 3.683 0.500 23.3 0.998 0.921 0.088 0.145 N c -0.877 -0.852 0.179 0.178 0.487 0.133 0 0.537 0.163 -1.081 0.035 -0.429 0.058 0.000 0.063 0.001 0.043 3.157 0.061 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.1691 0.0405 0.1539 0.1851 0.3692 0.2098 0.1364 0.1568 0.2213 0.1355 0.0404 0.1507 0.2086 0.3758 0.2172 0.1421 0.1588 het 1361.15 124 19 57325083 . C T 1361.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.709;DP=124;Dels=0.00;FS=2.939;HRun=0;HaplotypeScore=0.9867;MQ=59.55;MQ0=0;MQRankSum=-1.218;QD=10.98;ReadPosRankSum=0.823;VQSLOD=5.8596;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,58:124:99:1391,0,1828 19 57326721 57326721 C T exonic PEG3 nonsynonymous SNV PEG3:NM_001146186:exon7:c.G3089A:p.R1030Q,PEG3:NM_001146184:exon9:c.G3089A:p.R1030Q,PEG3:NM_001146185:exon9:c.G2711A:p.R904Q,PEG3:NM_001146187:exon9:c.G2717A:p.R906Q,PEG3:NM_006210:exon10:c.G3089A:p.R1030Q 0.009 . 0.022 0.001 0.021 0.0082 0.0120 0.0026 0.0066 0.0001 0.0033 0.0180 0.0099 0.0075 0.012 0.0043 0.016 . 0.041 rs36044899 . . . . . . . . . . . . . 0.298 0.146 T 0.053 0.439 B 0.007 0.324 B 0.320 0.041 N . . . 1.935 0.520 L 4.18 0.033 T -0.53 0.164 N 0.037 0.020 -0.953 0.405 T 0.002 0.007 T . . . 0.077 0.101 3.363 0.926 0.215 0.039 0.092 N c -1.246 -1.455 0.999 0.375 0.487 0.133 0 -7.62 0.011 -1.369 0.027 -0.456 0.055 0.000 0.063 0.000 0.016 3.489 0.071 . . . 0.0127 0.0024 0.0077 0.0419 5.8e-05 0.0034 0.0180 0.0133 0.0081 0.0094 0.0018 0.0143 0.03 0 0.0032 0.0155 0.0112 het 1209.42 78 19 57326721 . C T 1209.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.183;DP=78;Dels=0.00;FS=7.019;HRun=0;HaplotypeScore=0.9332;MQ=58.68;MQ0=0;MQRankSum=0.705;QD=15.51;ReadPosRankSum=0.185;VQSLOD=4.2195;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,40:78:99:1239,0,1010 19 57335022 57335022 G A exonic PEG3;ZIM2 synonymous SNV PEG3:NM_001146186:exon2:c.C420T:p.S140S,PEG3:NM_001146184:exon4:c.C420T:p.S140S,PEG3:NM_001146185:exon4:c.C42T:p.S14S,PEG3:NM_001146187:exon4:c.C42T:p.S14S,ZIM2:NM_015363:exon4:c.C42T:p.S14S,ZIM2:NM_001146326:exon5:c.C42T:p.S14S,ZIM2:NM_001146327:exon5:c.C42T:p.S14S,PEG3:NM_006210:exon5:c.C420T:p.S140S 0.2 0.042 0.33 0.17 0.28 0.29 0.2740 0.0776 0.4503 0.1911 0.2363 0.2771 0.2930 0.3190 0.22 0.077 0.29 0.12 0.17 rs1860565 COSM4001000;COSM4001002;COSM4001001 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2835 0.0742 0.4365 0.2401 0.1897 0.2326 0.2841 0.2821 0.3220 0.2186 0.0841 0.3909 0.2318 0.2065 0.2362 0.2800 0.2832 het 1594.52 146 19 57335022 . G A 1594.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.521;DP=146;Dels=0.00;FS=3.115;HRun=0;HaplotypeScore=3.9867;MQ=58.87;MQ0=0;MQRankSum=0.977;QD=10.92;ReadPosRankSum=0.092;VQSLOD=5.8399;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,66:146:99:1625,0,2047 19 57641146 57641146 A G exonic USP29 nonsynonymous SNV USP29:NM_020903:exon4:c.A1103G:p.N368S 0.74 0.74 0.7 0.93 0.62 0.71 0.6783 0.7412 0.7351 0.9408 0.5640 0.6285 0.6626 0.7094 0.66 0.74 0.63 0.77 0.6 rs1027392 . . . . . . . . . . . . . 0.313 0.139 T 0.916 0.487 P 0.497 0.457 P 0.029 0.255 N 1 0.090 P 1.385 0.346 L -0.78 0.736 T -2.41 0.529 N 0.007 0.000 -0.946 0.417 T 0.000 0.000 T . . . -1.262 0.023 0.005 0.687 0.085 0.047 0.102 N c -1.039 -1.209 0.000 0.012 0.487 0.133 0 -0.648 0.108 0.404 0.206 -0.378 0.066 0.000 0.063 0.021 0.135 7.159 0.247 Peptidase C19\x2c ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain . . 0.6792 0.7419 0.7365 0.6749 0.9355 0.5692 0.6292 0.6486 0.7091 0.6628 0.7382 0.7267 0.6722 0.9427 0.5555 0.6124 0.6240 het 1228.52 85 19 57641146 . A G 1228.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.969;DP=85;Dels=0.00;FS=0.814;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=-1.780;QD=14.45;ReadPosRankSum=1.165;VQSLOD=5.5408;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,43:85:99:1259,0,1075 19 57642098 57642098 G A exonic USP29 synonymous SNV USP29:NM_020903:exon4:c.G2055A:p.V685V 0.43 0.29 0.47 0.36 0.51 0.56 0.4899 0.3149 0.4691 0.3374 0.4121 0.5288 0.5044 0.5668 0.46 0.33 0.53 0.37 0.45 rs3764574 COSM3757307 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4901 0.3119 0.4718 0.5596 0.3372 0.4141 0.5315 0.4952 0.5664 0.4357 0.3134 0.4844 0.5430 0.3453 0.4132 0.5147 0.4704 het 850.77 59 19 57642098 . G A 850.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.426;DP=59;Dels=0.00;FS=1.006;HRun=0;HaplotypeScore=2.1968;MQ=59.22;MQ0=0;MQRankSum=1.430;QD=14.42;ReadPosRankSum=0.887;VQSLOD=6.4110;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,31:59:99:881,0,820 19 57642782 57642782 C A exonic USP29 stopgain USP29:NM_020903:exon4:c.C2739A:p.Y913X 0.95 0.99 0.93 1. 0.84 0.98 0.8913 0.9771 0.9367 1 0.8804 0.8355 0.9018 0.9790 0.88 0.97 0.84 0.96 0.76 rs9973206 . . . . . . . . . . . . . . . . . . . . . . . . . 0.995 0.233 P . . . . . . . . . . . . . . . . . . . . 8.251 0.958 35 0.930 0.220 0.000 0.003 N c -0.632 -1.028 0.000 0.012 0.487 0.133 0 -0.625 0.109 0.024 0.133 -0.468 0.054 0.003 0.159 0.004 0.083 0.115 0.001 . . . 0.8948 0.9785 0.9361 0.9306 0.9998 0.8759 0.8326 0.8750 0.9796 0.8846 0.9725 0.9103 0.9404 1 0.8718 0.8226 0.8648 hom 5169.05 163 19 57642782 . C A 5169.05 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5317;MQ=58.86;MQ0=0;QD=31.71;VQSLOD=9.7203;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5168,397,0 19 57646393 57646393 T A exonic ZIM3 stopgain ZIM3:NM_052882:exon5:c.A1312T:p.K438X 0.007 0.0015 0.0058 0.001 0.02 0.0082 0.0156 0.0033 0.0077 0 0.0106 0.0197 0.0143 0.0222 0.016 0.005 0.021 0.011 0.025 rs111350153 COSM1742498 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . 1.000 0.530 D . . . . . . . . . . . . . . . . . . . . 6.984 0.936 33 0.958 0.273 0.020 0.060 N c -0.222 -0.686 0.000 0.041 0.487 0.133 0 -3.67 0.042 -1.025 0.037 -0.008 0.133 0.000 0.063 0.184 0.214 5.017 0.136 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0148 0.0029 0.0060 0.0146 0.0002 0.0074 0.0208 0.0175 0.0221 0.0116 0.0050 0.0072 0.0132 0 0.0100 0.0174 0.0092 het 2051.87 160 19 57646393 . T A 2051.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.053;DP=160;Dels=0.00;FS=0.583;HRun=1;HaplotypeScore=2.9202;MQ=59.14;MQ0=0;MQRankSum=-2.276;QD=12.82;ReadPosRankSum=-0.043;VQSLOD=4.7556;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,77:160:99:2082,0,2246 19 57646570 57646570 T C exonic ZIM3 nonsynonymous SNV ZIM3:NM_052882:exon5:c.A1135G:p.I379V 0.42 0.27 0.47 0.36 0.51 0.56 0.4880 0.2980 0.4682 0.3373 0.4121 0.5287 0.5011 0.5658 0.46 0.31 0.53 0.36 0.46 rs4801433 COSM3757308 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.306 0.142 T 0.978 0.568 D 0.952 0.674 D . . . 1 0.090 P -0.345 0.033 N 3.21 0.071 T -0.27 0.114 N 0.021 0.005 -0.969 0.374 T 0.000 0.000 T . . . -0.136 0.081 1.475 0.809 0.129 0.035 0.085 N c -0.378 -0.527 0.000 0.012 0.487 0.133 0 1.68 0.231 -0.142 0.102 0.833 0.339 0.000 0.063 0.006 0.095 5.684 0.170 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.4889 0.2978 0.4703 0.5619 0.3368 0.4141 0.5315 0.4934 0.5650 0.4319 0.3006 0.4844 0.54 0.3436 0.4132 0.5144 0.4735 het 1491.32 136 19 57646570 . T C 1491.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.597;DP=136;Dels=0.00;FS=0.649;HRun=0;HaplotypeScore=0.5784;MQ=59.04;MQ0=0;MQRankSum=-0.659;QD=10.97;ReadPosRankSum=0.262;VQSLOD=6.4180;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,63:136:99:1521,0,2062 19 57647015 57647015 A G exonic ZIM3 synonymous SNV ZIM3:NM_052882:exon5:c.T690C:p.N230N 0.65 0.65 0.62 0.76 0.55 0.65 0.5951 0.6459 0.6384 0.7702 0.5050 0.5558 0.5947 0.6362 0.59 0.65 0.56 0.67 0.51 rs7251328 COSM3757309 1(breast);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5951 0.6505 0.6336 0.5924 0.7609 0.5095 0.5572 0.5725 0.6364 0.5811 0.6447 0.6277 0.5728 0.7635 0.4954 0.5439 0.5543 het 2200.44 177 19 57647015 . A G 2200.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.235;DP=177;Dels=0.00;FS=2.687;HRun=0;HaplotypeScore=7.7235;MQ=58.77;MQ0=0;MQRankSum=-1.259;QD=12.43;ReadPosRankSum=-1.664;VQSLOD=3.8297;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,88:177:99:2230,0,2346 19 57647236 57647236 T C exonic ZIM3 nonsynonymous SNV ZIM3:NM_052882:exon5:c.A469G:p.N157D 0.74 0.75 0.7 0.93 0.62 0.7 0.6781 0.7489 0.7340 0.9411 0.5638 0.6274 0.6630 0.7079 0.67 0.75 0.63 0.78 0.6 rs7252632 COSM1396954 1(large_intestine) . . . . . . . . . . . 0.584 0.059 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 3.59 0.046 T -0.63 0.185 N 0.003 0.000 -0.902 0.478 T 0.000 0.000 T . . . -2.872 0.002 0.001 0.368 0.024 0.012 0.043 N c -2.240 -2.347 0.998 0.368 0.487 0.133 0 -4.36 0.034 -4.616 0.002 -3.582 0.001 0.000 0.063 0.001 0.043 1.868 0.030 . . . 0.6791 0.7530 0.7351 0.6752 0.9359 0.5689 0.6283 0.6476 0.7080 0.6644 0.7476 0.7237 0.6722 0.9425 0.5547 0.6108 0.6235 het 4241.63 250 19 57647236 . T C 4241.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.285;DP=250;DS;Dels=0.00;FS=0.466;HRun=0;HaplotypeScore=5.9747;MQ=59.41;MQ0=0;MQRankSum=-1.785;QD=16.97;ReadPosRankSum=-1.457;VQSLOD=3.4175;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:117,132:250:99:3569,0,3374 19 57648277 57648277 A T exonic ZIM3 nonsynonymous SNV ZIM3:NM_052882:exon4:c.T205A:p.L69M 0.42 0.27 0.48 0.36 0.51 0.56 0.4865 0.2968 0.4685 0.3373 0.4119 0.5256 0.5 0.5678 0.46 0.31 0.53 0.36 0.45 rs4801200 COSM3757310 1(haematopoietic_and_lymphoid_tissue);2(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.607 0.055 T 0.704 0.400 P 0.198 0.351 B . . . 1 0.090 P 0.075 0.083 N 3.57 0.047 T 0.22 0.047 N 0.028 0.009 -0.938 0.430 T 0.000 0.000 T . . . -0.984 0.033 0.017 0.853 0.153 0.006 0.028 N c -1.485 -1.612 0.000 0.055 0.487 0.133 0 -4.65 0.031 -1.952 0.016 -0.142 0.109 0.000 0.063 0.004 0.083 3.276 0.064 Krueppel-associated box . . 0.4875 0.2969 0.4699 0.5610 0.3362 0.4137 0.5285 0.4922 0.5669 0.4304 0.2995 0.4785 0.5430 0.3429 0.4125 0.5125 0.4744 het 2197.22 203 19 57648277 . A T 2197.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.981;DP=203;Dels=0.00;FS=3.279;HRun=0;HaplotypeScore=6.8031;MQ=58.86;MQ0=0;MQRankSum=0.221;QD=10.82;ReadPosRankSum=-1.001;VQSLOD=4.4292;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,87:203:99:2227,0,2961 19 57723007 57723007 G C exonic ZNF264 nonsynonymous SNV ZNF264:NM_003417:exon4:c.G542C:p.R181T 0.62 0.84 0.64 0.31 0.65 0.6 0.6017 0.8203 0.6236 0.2951 0.5636 0.6035 0.5892 0.6173 0.68 0.82 0.6 0.67 0.57 rs2074858 COSM4417665 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.588 0.058 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.04 0.011 N 2.06 0.205 T 0.85 0.017 N 0.038 0.018 -1.074 0.085 T 0.000 0.000 T . . . -1.208 0.025 0.006 0.137 0.003 0.002 0.012 N c -1.255 -1.345 0.000 0.044 0.563 0.310 0 0.985 0.188 -0.065 0.115 -1.403 0.012 0.000 0.063 0.000 0.016 4.716 0.122 . ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid 0.5981 0.8235 0.6213 0.6314 0.2971 0.5721 0.6026 0.6048 0.6199 0.6473 0.8066 0.6127 0.6159 0.2943 0.5923 0.6118 0.5924 het 1298.76 100 19 57723007 . G C 1298.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.848;DP=100;Dels=0.00;FS=13.248;HRun=0;HaplotypeScore=2.6971;MQ=59.40;MQ0=0;MQRankSum=0.269;QD=12.99;ReadPosRankSum=0.021;VQSLOD=3.7531;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,51:100:99:1329,0,1405 19 57723013 57723013 G A exonic ZNF264 nonsynonymous SNV ZNF264:NM_003417:exon4:c.G548A:p.R183H 0.62 0.84 0.64 0.31 0.65 0.6 0.6017 0.8203 0.6233 0.2950 0.5646 0.6037 0.5892 0.6163 0.68 0.82 0.6 0.67 0.56 rs917340 COSM4418268 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.21 0.008 N 2.11 0.199 T 2.82 0.002 N 0.041 0.021 -1.049 0.146 T 0.000 0.000 T . . . -0.352 0.065 0.504 0.052 0.000 0.002 0.010 N c -1.700 -1.714 0.000 0.058 0.707 0.730 0 -0.786 0.103 -4.055 0.003 -0.619 0.043 0.000 0.063 0.013 0.120 2.551 0.044 . ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8|ENSG00000105146.8 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid 0.5980 0.8236 0.6211 0.6320 0.2970 0.5721 0.6027 0.6048 0.6189 0.6475 0.8065 0.6127 0.6159 0.2955 0.5925 0.6122 0.5912 het 1253.09 100 19 57723013 . G A 1253.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.224;DP=100;Dels=0.00;FS=11.523;HRun=0;HaplotypeScore=1.6988;MQ=59.58;MQ0=0;MQRankSum=0.231;QD=12.53;ReadPosRankSum=0.134;VQSLOD=4.7406;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,50:100:99:1283,0,1339 19 57802911 57802911 G A exonic ZNF460 synonymous SNV ZNF460:NM_001330622:exon3:c.G879A:p.R293R,ZNF460:NM_006635:exon3:c.G1002A:p.R334R 0.028 0.0023 0.049 . 0.087 0.017 0.0528 0.0126 0.0414 0.0001 0.0340 0.0778 0.0584 0.0198 0.054 0.015 0.075 0.033 0.082 rs36032958 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0510 0.0123 0.0436 0.0391 5.798e-05 0.0302 0.0793 0.0703 0.0198 0.0409 0.0150 0.0453 0.0430 0 0.0280 0.0632 0.0409 het 1685.39 120 19 57802911 . G A 1685.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.684;DP=120;Dels=0.00;FS=3.510;HRun=0;HaplotypeScore=3.8890;MQ=59.23;MQ0=0;MQRankSum=0.792;QD=14.04;ReadPosRankSum=1.207;VQSLOD=4.9297;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,64:120:99:1715,0,1450 19 57839150 57839150 A G exonic ZNF543 nonsynonymous SNV ZNF543:NM_213598:exon4:c.A320G:p.Q107R 0.68 0.77 0.71 0.59 0.72 0.6 0.7104 0.7593 0.7143 0.5829 0.7789 0.7343 0.7037 0.6198 0.75 0.75 0.75 0.67 0.76 rs8100491 COSM1180667 2(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.599 0.056 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P -0.27 0.037 N 1.89 0.237 T -0.99 0.262 N 0.005 0.000 -0.944 0.419 T 0.000 0.000 T . . . -2.244 0.005 0.001 0.222 0.009 0.059 0.117 N c -2.033 -2.130 0.213 0.183 0.563 0.310 0 -5.73 0.022 -1.699 0.020 -1.442 0.011 0.000 0.063 0.001 0.043 6.090 0.191 . ENSG00000131845.10|ENSG00000131845.10|ENSG00000178229.7|ENSG00000131845.10 Adipose_Subcutaneous|Lung|Nerve_Tibial|Nerve_Tibial 0.7127 0.7610 0.7141 0.6894 0.5869 0.7707 0.7408 0.7108 0.6213 0.7435 0.7576 0.6957 0.6854 0.5924 0.7705 0.7488 0.7480 het 1171.04 111 19 57839150 . A G 1171.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.583;DP=111;Dels=0.00;FS=3.608;HRun=0;HaplotypeScore=2.4529;MQ=59.36;MQ0=0;MQRankSum=0.300;QD=10.55;ReadPosRankSum=-1.079;VQSLOD=6.1694;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,52:111:99:1201,0,1644 19 57839567 57839567 T A exonic ZNF543 nonsynonymous SNV ZNF543:NM_213598:exon4:c.T737A:p.L246H 0.68 0.77 0.71 0.58 0.72 0.6 0.7102 0.7595 0.7143 0.5830 0.7788 0.7340 0.7037 0.6197 0.75 0.75 0.75 0.69 0.75 rs1968090 COSM4001009 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.497 0.078 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 2.21 0.624 M 1.96 0.223 T 4.22 0.000 N 0.085 0.080 -1.042 0.165 T 0.000 0.000 T . . . 0.313 0.124 5.817 0.250 0.011 0.020 0.059 N c -0.832 -0.861 0.003 0.098 0.563 0.310 0 2.33 0.279 0.018 0.132 -0.042 0.124 0.000 0.063 0.977 0.480 7.18 0.248 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000131845.10|ENSG00000131845.10|ENSG00000178229.7|ENSG00000131845.10 Adipose_Subcutaneous|Lung|Nerve_Tibial|Nerve_Tibial 0.7125 0.7611 0.7138 0.6864 0.5869 0.7708 0.7408 0.7108 0.6214 0.7439 0.7575 0.6957 0.69 0.5969 0.7699 0.7492 0.7480 het 1269.69 131 19 57839567 . T A 1269.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.775;DP=131;Dels=0.00;FS=0.675;HRun=0;HaplotypeScore=4.2227;MQ=59.43;MQ0=0;MQRankSum=-0.725;QD=9.69;ReadPosRankSum=-0.086;VQSLOD=5.3753;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,51:131:99:1300,0,2207 19 57868336 57868336 A G exonic ZNF304 nonsynonymous SNV ZNF304:NM_020657:exon3:c.A1099G:p.K367E,ZNF304:NM_001290318:exon4:c.A1240G:p.K414E,ZNF304:NM_001290319:exon4:c.A973G:p.K325E,ZNF304:NM_001329456:exon4:c.A823G:p.K275E 0.99 1. 1. 0.99 0.98 0.99 0.9882 0.9978 0.9966 0.9958 0.9920 0.9835 0.9890 0.9898 0.99 1. 0.98 1. 0.96 rs862709 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.94 0.013 N 2.19 0.187 T 2.62 0.003 N 0.027 0.114 -0.944 0.420 T 0.000 0.000 T . . . -0.771 0.042 0.050 0.296 0.016 0.001 0.008 N c -1.235 -1.182 0.002 0.091 0.563 0.310 0 1.48 0.218 0.457 0.214 -0.000 0.135 0.000 0.063 0.904 0.383 8.379 0.314 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9883 0.9980 0.9955 0.9818 0.9963 0.9905 0.9829 0.9909 0.9904 0.9886 0.9970 0.9964 0.9801 0.9988 0.9908 0.9820 0.9857 hom 5060.38 175 19 57868336 . A G 5060.38 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=58.61;MQ0=0;QD=28.92;VQSLOD=8.2957;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5059,412,0 19 57909872 57909872 G A exonic ZNF548 nonsynonymous SNV ZNF548:NM_152909:exon3:c.G217A:p.A73T,ZNF548:NM_001172773:exon4:c.G253A:p.A85T 0.91 0.96 0.89 0.8 0.93 0.95 0.9274 0.9654 0.9022 0.8038 0.9323 0.9386 0.9356 0.9392 0.95 0.97 0.94 0.91 . rs4801478 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.42 0.006 N 5.45 0.052 T 2.49 0.002 N 0.004 0.000 -1.020 0.237 T 0.000 0.000 T . . . -0.853 0.038 0.033 0.063 0.000 0.002 0.012 N c -1.614 -1.564 0.049 0.148 0.707 0.730 0 1.14 0.197 -0.178 0.097 0.077 0.185 0.000 0.063 0.001 0.043 6.519 0.213 Krueppel-associated box . . 0.9254 0.9692 0.9040 0.9422 0.8055 0.9304 0.9378 0.9294 0.9393 0.9409 0.9711 0.9163 0.9305 0.8041 0.9339 0.9413 0.9418 het 1913.97 165 19 57909872 . G A 1913.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.320;DP=165;Dels=0.00;FS=1.234;HRun=1;HaplotypeScore=4.3453;MQ=59.35;MQ0=0;MQRankSum=0.486;QD=11.60;ReadPosRankSum=0.335;VQSLOD=6.1197;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,75:165:99:1944,0,2509 19 57956828 57956828 T G exonic ZNF749 nonsynonymous SNV ZNF749:NM_001321953:exon2:c.T2051G:p.I684R,ZNF749:NM_001321954:exon2:c.T2051G:p.I684R,ZNF749:NM_001023561:exon3:c.T2312G:p.I771R,ZNF749:NM_001321952:exon3:c.T2291G:p.I764R 0.71 0.73 0.68 0.72 0.6 0.79 0.6691 0.7222 0.7764 0.7577 0.6331 0.6093 0.6387 0.7720 0.64 0.71 0.6 0.75 . rs7246856 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.784 0.293 P -1.67 0.004 N 5.0 0.014 T 4.26 0.000 N 0.084 0.078 -1.048 0.149 T 0.000 0.000 T . . . -0.880 0.037 0.029 0.225 0.009 0.002 0.011 N c -1.936 -1.899 0.017 0.129 0.651 0.465 0 1.52 0.221 -2.009 0.015 -2.484 0.003 0.000 0.063 0.001 0.043 3.475 0.071 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.6687 0.7232 0.7580 0.5899 0.7556 0.6294 0.6092 0.6320 0.7707 0.6555 0.7195 0.7255 0.6026 0.7784 0.6231 0.6106 0.6426 het 1617.87 148 19 57956828 . T G 1617.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.417;DP=148;Dels=0.00;FS=0.618;HRun=0;HaplotypeScore=3.9198;MQ=59.39;MQ0=0;MQRankSum=-0.943;QD=10.93;ReadPosRankSum=-0.576;VQSLOD=5.8108;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,65:148:99:1648,0,1995 19 57985566 57985566 G C exonic ZNF772 nonsynonymous SNV ZNF772:NM_001330613:exon3:c.C210G:p.C70W,ZNF772:NM_001144068:exon4:c.C423G:p.C141W,ZNF772:NM_001024596:exon5:c.C546G:p.C182W 0.68 0.61 0.72 0.7 0.64 0.75 0.6601 0.6211 0.7370 0.7210 0.6265 0.6351 0.6424 0.7145 0.63 0.61 0.63 0.72 0.59 rs2074060 COSM3757333 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.020 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.191 P -0.18 0.042 N 3.18 0.075 T 5.61 0.000 N 0.091 0.101 -1.005 0.285 T 0.000 0.000 T . . . 0.135 0.107 3.979 0.243 0.011 0.035 0.086 N c -0.845 -0.971 0.820 0.245 0.563 0.310 0 -1.09 0.093 -3.406 0.005 -0.054 0.122 0.000 0.063 0.910 0.387 1.126 0.016 Krueppel-associated box;Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000105136.15|ENSG00000197128.7|ENSG00000152439.8|ENSG00000105136.15|ENSG00000197128.7|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000197128.7|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000268545.1|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000197128.7|ENSG00000105136.15|ENSG00000152439.8|ENSG00000152439.8|ENSG00000105136.15|ENSG00000105136.15|ENSG00000152439.8|ENSG00000197128.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.6606 0.6209 0.7140 0.6051 0.7192 0.6281 0.6383 0.6554 0.7127 0.6345 0.6285 0.7136 0.5973 0.7342 0.6251 0.6257 0.6334 het 1896.71 125 19 57985566 . G C 1896.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.036;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5739;MQ=60.00;MQ0=0;MQRankSum=-0.741;QD=15.17;ReadPosRankSum=0.796;VQSLOD=5.5766;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,69:125:99:1927,0,1576 19 57985702 57985702 C A exonic ZNF772 nonsynonymous SNV ZNF772:NM_001330613:exon3:c.G74T:p.G25V,ZNF772:NM_001144068:exon4:c.G287T:p.G96V,ZNF772:NM_001024596:exon5:c.G410T:p.G137V 0.0018 . 0.0029 . 0.006 0.001 0.0052 0.0012 0.0042 0 0.0005 0.0080 0.0121 0.0016 0.0065 0.0018 0.0088 . . rs149559142 . . . . . . . . . . . . . 0.082 0.427 T 0.0 0.158 B 0.001 0.112 B . . . 1.000 0.090 N 0.91 0.234 L 3.4 0.065 T -2.55 0.753 D 0.08 0.075 -0.925 0.449 T 0.007 0.023 T . . . -1.036 0.031 0.013 0.383 0.026 0.088 0.145 N c -1.820 -1.914 1.000 0.402 0.651 0.465 0 -7.18 0.013 -1.430 0.025 -2.050 0.005 0.000 0.063 0.000 0.016 0.653 0.008 Krueppel-associated box . . 0.0055 0.0011 0.0047 0.0323 0 0.0003 0.0067 0.0102 0.0017 0.0033 0.0009 0.0072 0.0331 0 0.0006 0.0047 0.0061 het 1312.65 84 19 57985702 . C A 1312.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.135;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8288;MQ=58.68;MQ0=0;MQRankSum=-1.764;QD=15.63;ReadPosRankSum=-1.458;VQSLOD=2.8725;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,49:84:99:1343,0,835 19 58004346 58004346 G C exonic ZNF419 nonsynonymous SNV ZNF419:NM_001098495:exon3:c.G286C:p.E96Q,ZNF419:NM_001098496:exon3:c.G283C:p.E95Q,ZNF419:NM_001098492:exon4:c.G385C:p.E129Q,ZNF419:NM_001098493:exon4:c.G382C:p.E128Q,ZNF419:NM_001098494:exon4:c.G325C:p.E109Q,ZNF419:NM_001291743:exon4:c.G322C:p.E108Q,ZNF419:NM_001291744:exon4:c.G157C:p.E53Q,ZNF419:NM_001098491:exon5:c.G424C:p.E142Q,ZNF419:NM_024691:exon5:c.G421C:p.E141Q 0.7 0.58 0.73 0.7 0.68 0.84 0.7111 0.6016 0.7552 0.7201 0.7308 0.6970 0.7031 0.7933 0.66 0.59 0.69 0.71 0.62 rs2074076 COSM3757336;COSM3757338;COSM3757337 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.576 0.075 T 0.596 0.457 P 0.099 0.447 B . . . 1 0.090 P 1.535 0.390 L 3.38 0.068 T -0.69 0.268 N 0.069 0.107 -1.070 0.095 T 0.000 0.000 T . . . 1.109 0.201 11.26 0.179 0.005 0.107 0.160 N c -0.902 -1.007 0.006 0.111 0.563 0.310 0 0.261 0.148 2.711 0.466 0.631 0.290 0.990 0.367 0.009 0.108 6.075 0.190 Krueppel-associated box ENSG00000105136.15|ENSG00000152439.8|ENSG00000152439.8|ENSG00000105136.15|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000105136.15|ENSG00000197128.7|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000152439.8|ENSG00000105136.15|ENSG00000268545.1|ENSG00000105136.15|ENSG00000152439.8|ENSG00000152439.8|ENSG00000152439.8|ENSG00000105136.15|ENSG00000197128.7|ENSG00000105136.15|ENSG00000152439.8|ENSG00000152439.8|ENSG00000105136.15|ENSG00000105136.15|ENSG00000152439.8|ENSG00000197128.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.7115 0.5993 0.7346 0.6597 0.7191 0.7274 0.6985 0.7081 0.7904 0.6756 0.6092 0.7416 0.6689 0.7364 0.7295 0.6898 0.7041 het 535.60 57 19 58004346 . G C 535.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=57;Dels=0.00;FS=1.097;HRun=0;HaplotypeScore=1.9153;MQ=59.29;MQ0=0;MQRankSum=0.042;QD=9.40;ReadPosRankSum=-0.393;VQSLOD=5.8966;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,20:57:99:566,0,943 19 58038964 58038964 T A exonic ZNF549 nonsynonymous SNV ZNF549:NM_001199295:exon1:c.T23A:p.I8N,ZNF549:NM_153263:exon1:c.T23A:p.I8N 0.99 1. 0.98 1. 0.97 0.99 0.9810 0.9960 0.9902 1 0.9858 0.9721 0.9819 0.9889 0.98 0.99 0.97 1. 0.85 rs12461014 COSM3757344;COSM3757343 1(large_intestine) . . . . . . . . . . . 0.527 0.121 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.49 0.026 N 3.39 0.058 T 1.06 0.016 N 0.1 0.103 -1.032 0.198 T 0.000 0.000 T . . . 0.866 0.177 9.865 0.465 0.037 0.001 0.006 N c -1.314 -1.389 1.000 0.747 0.267 0.040 1 0.703 0.172 0.347 0.196 -0.443 0.057 0.000 0.063 0.000 0.016 1.646 0.026 . . . 0.9813 0.9958 0.9887 0.9649 1 0.9859 0.9726 0.9783 0.9893 0.9845 0.9944 0.9916 0.9768 1 0.9863 0.9767 0.9807 hom 1141.53 34 19 58038964 . T A 1141.53 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.57;VQSLOD=13.7163;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:96.29:1175,96,0 19 58058739 58058739 T C exonic ZNF550 synonymous SNV ZNF550:NM_001277090:exon4:c.A873G:p.Q291Q,ZNF550:NM_001277091:exon4:c.A873G:p.Q291Q,ZNF550:NM_001277092:exon4:c.A873G:p.Q291Q 0.49 0.57 0.54 0.41 0.44 0.47 0.4803 0.5464 0.6026 0.4404 0.4900 0.4476 0.5187 0.4995 0.49 0.55 0.46 0.51 0.34 rs10410631 COSM4132672;COSM4132671 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4811 0.5451 0.5867 0.4459 0.4209 0.4859 0.4470 0.4756 0.5005 0.4762 0.5503 0.5600 0.47 0.4148 0.4739 0.4366 0.4611 het 2170.47 133 19 58058739 . T C 2170.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.806;DP=133;Dels=0.00;FS=4.300;HRun=0;HaplotypeScore=5.1032;MQ=59.65;MQ0=0;MQRankSum=-0.546;QD=16.32;ReadPosRankSum=-0.559;VQSLOD=4.6049;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,74:133:99:2200,0,1529 19 58117083 58117083 A G exonic ZNF530 nonsynonymous SNV ZNF530:NM_020880:exon3:c.A190G:p.T64A,ZNF530:NM_001321981:exon4:c.A91G:p.T31A 0.3 0.49 0.21 0.32 0.17 0.19 0.2174 0.4586 0.2018 0.3316 0.1568 0.1725 0.2289 0.2208 0.26 0.44 0.17 0.29 0.25 rs9677004 COSM4001014 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.44 0.028 N 1.86 0.243 T 0.75 0.020 N 0.012 0.001 -0.950 0.410 T 0.000 0.000 T . . . -2.710 0.002 0.001 0.135 0.003 0.008 0.033 N c -1.813 -1.890 0.004 0.104 0.563 0.310 0 -3.39 0.045 -1.706 0.020 -0.576 0.046 0.000 0.063 0.000 0.016 5.137 0.142 Krueppel-associated box ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000105136.15|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000105136.15|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.2106 0.4563 0.2121 0.2153 0.3406 0.1579 0.1654 0.2007 0.2149 0.2528 0.4489 0.2160 0.2020 0.3389 0.1501 0.1607 0.1925 het 843.41 77 19 58117083 . A G 843.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.020;DP=77;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.8553;MQ=59.16;MQ0=0;MQRankSum=-0.298;QD=10.95;ReadPosRankSum=-0.507;VQSLOD=6.4684;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,35:77:99:873,0,1076 19 58117223 58117223 T A exonic ZNF530 nonsynonymous SNV ZNF530:NM_020880:exon3:c.T330A:p.H110Q,ZNF530:NM_001321981:exon4:c.T231A:p.H77Q 0.75 0.87 0.65 0.68 0.79 0.66 0.7360 0.8510 0.5496 0.6469 0.6967 0.7820 0.7258 0.6712 0.8 0.85 0.77 0.81 0.76 rs2360543 COSM3757345 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.19 0.008 N 3.65 0.043 T 3.53 0.001 N 0.015 0.002 -1.018 0.245 T 0.000 0.000 T . . . -1.868 0.010 0.002 0.239 0.010 0.001 0.006 N c -1.853 -1.832 0.000 0.069 0.563 0.310 0 -0.789 0.103 -1.926 0.016 -0.956 0.024 0.000 0.063 0.000 0.016 2.213 0.037 . ENSG00000105136.15|ENSG00000105136.15|ENSG00000105136.15|ENSG00000197128.7|ENSG00000268266.1|ENSG00000105136.15|ENSG00000105136.15|ENSG00000268545.1|ENSG00000105136.15|ENSG00000197128.7|ENSG00000197128.7|ENSG00000105136.15|ENSG00000105136.15|ENSG00000268266.1 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7262 0.8534 0.5621 0.7875 0.6606 0.7006 0.7814 0.7531 0.6723 0.7822 0.8565 0.6002 0.7767 0.6522 0.7065 0.7841 0.7327 hom 2806.41 92 19 58117223 . T A 2806.41 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7468;MQ=59.25;MQ0=0;QD=30.50;VQSLOD=8.0844;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2839,217,0 19 58117399 58117399 C T exonic ZNF530 nonsynonymous SNV ZNF530:NM_020880:exon3:c.C506T:p.T169M,ZNF530:NM_001321981:exon4:c.C407T:p.T136M 0.065 0.036 0.063 0.17 0.031 0.038 0.0474 0.0332 0.0684 0.1681 0.0178 0.0330 0.0595 0.0478 0.034 0.034 0.034 0.043 0.025 rs11883343 COSM4416095 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.075 0.344 T 0.963 0.537 D 0.579 0.483 P . . . 1 0.090 P 1.235 0.309 L 4.67 0.018 T -2.46 0.537 N 0.038 0.018 -0.955 0.402 T 0.000 0.000 T . . . -0.497 0.056 0.224 0.955 0.266 0.014 0.047 N c -1.246 -1.497 0.001 0.078 0.563 0.310 0 -1.97 0.071 -1.540 0.023 -1.570 0.009 0.000 0.063 0.000 0.016 3.933 0.087 . ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9 Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.0509 0.0346 0.0789 0.0865 0.1705 0.0189 0.0295 0.0602 0.0490 0.0371 0.0335 0.0740 0.0795 0.1555 0.0206 0.0271 0.0418 het 1129.28 73 19 58117399 . C T 1129.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.125;DP=73;Dels=0.00;FS=6.572;HRun=0;HaplotypeScore=5.8126;MQ=58.53;MQ0=0;MQRankSum=-0.050;QD=15.47;ReadPosRankSum=1.158;VQSLOD=4.4162;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,40:73:99:1159,0,879 19 58131623 58131623 G A exonic ZNF134 nonsynonymous SNV ZNF134:NM_003435:exon3:c.G136A:p.A46T 0.086 0.11 0.075 0.16 0.035 0.038 0.0544 0.0980 0.0736 0.1611 0.0290 0.0348 0.0667 0.0481 0.053 0.091 0.035 0.098 0.025 rs10413455 COSM4414970 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.3 0.001 N 3.25 0.068 T 2.23 0.003 N 0.01 0.002 -0.932 0.438 T 0.000 0.000 T . . . -1.192 0.025 0.007 0.095 0.001 0.001 0.005 N c -1.445 -1.470 0.007 0.113 0.672 0.522 0 -2.6 0.058 -0.726 0.050 0.024 0.147 0.000 0.063 0.006 0.095 4.849 0.128 . ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9 Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.0570 0.0992 0.0834 0.0873 0.1638 0.0319 0.0309 0.0661 0.0492 0.0580 0.0970 0.0776 0.0795 0.1523 0.0326 0.0298 0.0519 het 2502.08 198 19 58131623 . G A 2502.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.008;DP=198;Dels=0.00;FS=1.778;HRun=0;HaplotypeScore=7.4395;MQ=59.15;MQ0=0;MQRankSum=1.660;QD=12.64;ReadPosRankSum=1.407;VQSLOD=4.4633;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,98:198:99:2532,0,2497 19 58152361 58152361 T A exonic ZNF211 synonymous SNV ZNF211:NM_001265600:exon3:c.T324A:p.T108T,ZNF211:NM_198855:exon3:c.T507A:p.T169T,ZNF211:NM_001265598:exon4:c.T663A:p.T221T,ZNF211:NM_006385:exon4:c.T546A:p.T182T,ZNF211:NM_001265597:exon5:c.T702A:p.T234T,ZNF211:NM_001265599:exon5:c.T480A:p.T160T,ZNF211:NM_001322306:exon5:c.T696A:p.T232T 0.21 0.24 0.13 0.32 0.16 0.19 0.1796 0.2237 0.1355 0.3300 0.1421 0.1592 0.1980 0.2009 0.18 0.22 0.16 0.21 0.26 rs3746219 COSM4001016;COSM4001017 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1760 0.2220 0.1393 0.2140 0.3384 0.1405 0.1525 0.1714 0.2011 0.1783 0.2223 0.1444 0.2086 0.3358 0.1391 0.1467 0.1701 het 1675.43 96 19 58152361 . T A 1675.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.189;DP=96;Dels=0.00;FS=7.018;HRun=0;HaplotypeScore=2.6475;MQ=59.57;MQ0=0;MQRankSum=0.075;QD=17.45;ReadPosRankSum=0.120;VQSLOD=3.8932;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,59:96:99:1705,0,1056 19 58152795 58152795 C T exonic ZNF211 nonsynonymous SNV ZNF211:NM_001265600:exon3:c.C758T:p.A253V,ZNF211:NM_198855:exon3:c.C941T:p.A314V,ZNF211:NM_001265598:exon4:c.C1097T:p.A366V,ZNF211:NM_006385:exon4:c.C980T:p.A327V,ZNF211:NM_001265597:exon5:c.C1136T:p.A379V,ZNF211:NM_001265599:exon5:c.C914T:p.A305V,ZNF211:NM_001322306:exon5:c.C1130T:p.A377V 0.21 0.24 0.13 0.32 0.16 0.19 0.1793 0.2227 0.1352 0.3288 0.1420 0.1590 0.1971 0.2008 0.18 0.22 0.16 0.21 0.26 rs11879465 COSM4001018;COSM4001019 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.246 0.225 T 0.065 0.220 B 0.003 0.104 B . . . 1 0.090 P -0.44 0.028 N 2.29 0.171 T -0.76 0.212 N 0.04 0.256 -0.923 0.452 T 0.000 0.000 T . . . 0.309 0.124 5.783 0.810 0.130 0.057 0.115 N c -2.245 -2.232 0.588 0.216 0.707 0.730 0 -2.34 0.063 -2.408 0.011 -0.807 0.031 0.000 0.063 0.819 0.343 4.368 0.106 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000105136.15|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9|ENSG00000121417.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood 0.1757 0.2214 0.1390 0.2137 0.3377 0.1404 0.1524 0.1712 0.2011 0.1778 0.2221 0.1454 0.2033 0.3373 0.1387 0.1459 0.1701 het 1526.37 112 19 58152795 . C T 1526.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.022;DP=112;Dels=0.00;FS=0.716;HRun=0;HaplotypeScore=0.9973;MQ=59.79;MQ0=0;MQRankSum=1.261;QD=13.63;ReadPosRankSum=0.504;VQSLOD=6.4878;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,58:112:99:1556,0,1485 19 58152817 58152817 G C exonic ZNF211 synonymous SNV ZNF211:NM_001265600:exon3:c.G780C:p.S260S,ZNF211:NM_198855:exon3:c.G963C:p.S321S,ZNF211:NM_001265598:exon4:c.G1119C:p.S373S,ZNF211:NM_006385:exon4:c.G1002C:p.S334S,ZNF211:NM_001265597:exon5:c.G1158C:p.S386S,ZNF211:NM_001265599:exon5:c.G936C:p.S312S,ZNF211:NM_001322306:exon5:c.G1152C:p.S384S 0.21 0.24 0.13 0.32 0.16 0.19 0.1793 0.2228 0.1351 0.3289 0.1420 0.1590 0.1971 0.2008 0.18 0.22 0.16 0.21 0.26 rs11880050 COSM4001020;COSM4001021 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1757 0.2214 0.1390 0.2137 0.3379 0.1404 0.1524 0.1710 0.2011 0.1775 0.2219 0.1451 0.2033 0.3373 0.1386 0.1454 0.1708 het 2012.61 131 19 58152817 . G C 2012.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.573;DP=131;Dels=0.00;FS=2.259;HRun=1;HaplotypeScore=4.5728;MQ=59.18;MQ0=0;MQRankSum=0.462;QD=15.36;ReadPosRankSum=-0.648;VQSLOD=4.8853;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,69:131:99:2043,0,1541 19 58189287 58189287 C T exonic ZSCAN4 synonymous SNV ZSCAN4:NM_152677:exon4:c.C402T:p.H134H 0.16 0.17 0.13 0.26 0.16 0.056 0.1635 0.1563 0.1544 0.2633 0.1541 0.1637 0.1696 0.0981 0.16 0.16 0.16 0.16 0.28 rs9676604 COSM148786 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1616 0.1561 0.1583 0.2105 0.2625 0.1547 0.1584 0.1671 0.0911 0.1636 0.1522 0.1492 0.2185 0.2546 0.1509 0.1636 0.1558 het 1309.87 120 19 58189287 . C T 1309.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.486;DP=120;Dels=0.00;FS=5.352;HRun=0;HaplotypeScore=0.9894;MQ=58.99;MQ0=0;MQRankSum=0.005;QD=10.92;ReadPosRankSum=-1.623;VQSLOD=5.3339;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,49:120:99:1340,0,1919 19 58213952 58213952 C A exonic ZNF154 nonsynonymous SNV ZNF154:NM_001085384:exon3:c.G365T:p.G122V 0.17 0.084 0.24 0.37 0.12 0.07 0.1441 0.0717 0.2506 0.3984 0.1149 0.1245 0.1344 0.0710 0.11 0.072 0.12 0.16 0.082 rs2074078 COSM3757346 4(haematopoietic_and_lymphoid_tissue);1(pancreas);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.502 0.077 T 0.022 0.174 B 0.012 0.149 B . . . 1 0.090 P 1.3 0.327 L 3.28 0.065 T 0.15 0.053 N 0.027 0.012 -0.923 0.451 T 0.000 0.000 T . . . -0.438 0.059 0.312 0.623 0.068 0.045 0.100 N c -1.131 -1.269 0.000 0.054 0.672 0.522 0 -1.45 0.083 0.145 0.159 -0.603 0.044 0.000 0.063 0.002 0.062 2.207 0.037 . . . 0.1521 0.0714 0.2517 0.1902 0.3878 0.1211 0.1209 0.1663 0.0721 0.1270 0.0781 0.2076 0.1755 0.3736 0.1119 0.1266 0.1327 hom 6689.67 203 19 58213952 . C A 6689.67 Mask AC=2;AF=1.00;AN=2;DP=203;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7674;MQ=59.76;MQ0=0;QD=32.95;VQSLOD=8.5551;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6689,569,0 19 58352522 58352522 G A exonic ZNF587B synonymous SNV ZNF587B:NM_001204818:exon3:c.G480A:p.R160R 0.57 0.74 0.56 0.68 0.46 0.36 0.4949 0.6936 0.5745 0.6799 0.5254 0.4556 0.5033 0.3629 . . . 0.53 . rs12981244 COSM3835998;COSM3835997 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4972 0.7030 0.5760 0.4551 0.6746 0.5225 0.4531 0.4976 0.3644 0.5521 0.7003 0.5827 0.4636 0.6567 0.5218 0.4671 0.4724 hom 3200.02 125 19 58352522 . G A 3200.02 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.090;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9069;MQ=43.12;MQ0=1;MQRankSum=0.000;QD=25.60;ReadPosRankSum=-0.112;VQSLOD=2.6580;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:2,123:125:99:3233,248,0 19 58439306 58439306 G A exonic ZNF418 synonymous SNV ZNF418:NM_133460:exon4:c.C243T:p.A81A,ZNF418:NM_001317027:exon5:c.C306T:p.A102A,ZNF418:NM_001317028:exon5:c.C246T:p.A82A,ZNF418:NM_001317029:exon5:c.C243T:p.A81A 0.29 0.26 0.36 0.4 0.25 0.2 0.2835 0.2542 0.3726 0.4703 0.3675 0.2580 0.3214 0.2060 0.25 0.24 0.26 0.26 0.25 rs7253514 COSM5427144 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2881 0.2504 0.3648 0.3094 0.4598 0.3576 0.2516 0.2942 0.2015 0.2748 0.2492 0.3449 0.3 0.4491 0.3485 0.2492 0.2765 het 1518.96 94 19 58439306 . G A 1518.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.488;DP=94;Dels=0.00;FS=6.828;HRun=0;HaplotypeScore=3.5973;MQ=58.46;MQ0=0;MQRankSum=-0.606;QD=16.16;ReadPosRankSum=-0.512;VQSLOD=4.4378;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,55:94:99:1549,0,1008 19 58453342 58453342 T C exonic ZNF256 synonymous SNV ZNF256:NM_005773:exon3:c.A834G:p.Q278Q 0.27 0.16 0.31 0.31 0.3 0.3 0.2808 0.1627 0.2928 0.3152 0.2402 0.2982 0.3084 0.2735 0.26 0.17 0.3 0.33 0.34 rs959231 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2825 0.1600 0.3004 0.2022 0.3127 0.2445 0.3065 0.2940 0.2713 0.2645 0.1607 0.3055 0.1921 0.3066 0.2645 0.3176 0.2936 het 2005.13 162 19 58453342 . T C 2005.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.643;DP=162;Dels=0.00;FS=1.259;HRun=0;HaplotypeScore=9.2440;MQ=59.02;MQ0=0;MQRankSum=0.180;QD=12.38;ReadPosRankSum=0.378;VQSLOD=4.6473;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:86,76:162:99:2035,0,2333 19 58455381 58455381 C T exonic ZNF256 synonymous SNV ZNF256:NM_005773:exon2:c.G81A:p.E27E 0.99 1. 0.99 0.98 0.99 1. 0.9930 0.9997 0.9710 0.9841 0.9693 0.9977 0.9890 0.9996 1. 1. 1. 1. 1. rs257652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9914 0.9999 0.9734 0.9960 0.9829 0.9684 0.9989 0.9896 0.9995 0.9949 0.9999 0.9797 0.9934 0.9864 0.9780 0.9979 0.9919 hom 6852.45 214 19 58455381 . C T 6852.45 Mask AC=2;AF=1.00;AN=2;DP=214;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.3287;MQ=59.22;MQ0=0;QD=32.02;VQSLOD=2.9652;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,214:214:99:6851,551,0 19 58549354 58549354 C T exonic ZSCAN1 synonymous SNV ZSCAN1:NM_182572:exon3:c.C150T:p.S50S 0.017 0.0038 0.019 . 0.059 0.0061 0.0278 0.0061 0.0149 0 0.0418 0.0405 0.0352 0.0090 0.027 0.0078 0.037 0.011 0.033 rs113374422 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0270 0.0048 0.0159 0.0599 5.897e-05 0.0372 0.0381 0.0366 0.0078 0.0252 0.0060 0.0286 0.0633 0 0.0393 0.0343 0.0336 het 540.95 42 19 58549354 . C T 540.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.088;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-0.488;QD=12.88;ReadPosRankSum=-2.058;VQSLOD=5.1901;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,21:42:99:571,0,526 19 58549366 58549366 C G exonic ZSCAN1 synonymous SNV ZSCAN1:NM_182572:exon3:c.C162G:p.L54L 0.64 0.67 0.73 0.43 0.73 0.66 0.6874 0.6694 0.7286 0.4540 0.7043 0.7134 0.6883 0.6817 0.69 0.66 0.71 0.61 0.45 rs159870 COSM3749569;COSM3749568 3(thyroid);14(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6880 0.6586 0.7239 0.7077 0.4434 0.7077 0.7157 0.7095 0.6801 0.6768 0.6622 0.7136 0.7233 0.4240 0.7037 0.7031 0.6810 hom 1217.67 39 19 58549366 . C G 1217.67 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.22;VQSLOD=13.5220;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1251,99,0 19 58572979 58572979 G A exonic ZNF135 nonsynonymous SNV ZNF135:NM_001164527:exon2:c.G101A:p.G34D,ZNF135:NM_001164529:exon2:c.G101A:p.G34D,ZNF135:NM_001164530:exon2:c.G101A:p.G34D,ZNF135:NM_007134:exon2:c.G101A:p.G34D,ZNF135:NM_001289401:exon3:c.G65A:p.G22D,ZNF135:NM_003436:exon3:c.G65A:p.G22D 0.78 0.93 0.82 0.49 0.86 0.78 0.8251 0.9295 0.7857 0.4874 0.8508 0.8656 0.8249 0.7891 0.88 0.93 0.86 0.87 0.9 rs1469087 COSM4132692;COSM4132691 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B . . . 1.000 0.548 P -2.38 0.001 N 4.97 0.014 T 3.95 0.001 N 0.099 0.545 -1.066 0.102 T 0.000 0.000 T . . . -0.191 0.077 1.144 0.110 0.002 0.009 0.036 N c -1.333 -1.135 0.000 0.046 0.706 0.609 0 1.48 0.218 1.341 0.333 0.063 0.168 0.055 0.214 0.828 0.346 5.863 0.179 Krueppel-associated box ENSG00000176293.15|ENSG00000176293.15|ENSG00000176293.15|ENSG00000176293.15 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.8189 0.9308 0.7835 0.9065 0.4810 0.8443 0.8604 0.8338 0.7905 0.8514 0.9238 0.8134 0.9139 0.4726 0.8428 0.8541 0.8333 hom 4195 132 19 58572979 . G A 4195 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3123;MQ=58.68;MQ0=0;QD=31.78;VQSLOD=9.1562;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:132:99:4194,358,0 19 58578578 58578578 C T exonic ZNF135 synonymous SNV ZNF135:NM_001164530:exon4:c.C762T:p.Y254Y,ZNF135:NM_007134:exon4:c.C798T:p.Y266Y,ZNF135:NM_001289401:exon5:c.C726T:p.Y242Y,ZNF135:NM_001289402:exon5:c.C600T:p.Y200Y,ZNF135:NM_003436:exon5:c.C762T:p.Y254Y 0.37 0.35 0.48 0.21 0.41 0.42 0.3969 0.3404 0.5259 0.2103 0.3665 0.4037 0.3943 0.4243 0.38 0.34 0.4 0.43 0.38 rs2229375 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4008 0.3436 0.5132 0.4622 0.2052 0.3592 0.4012 0.4228 0.4213 0.3707 0.3497 0.4916 0.5033 0.2007 0.3323 0.3996 0.3891 het 2978.43 239 19 58578578 . C T 2978.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.549;DP=239;DS;Dels=0.00;FS=1.587;HRun=0;HaplotypeScore=2.6279;MQ=59.90;MQ0=0;MQRankSum=-0.529;QD=12.46;ReadPosRankSum=1.305;VQSLOD=6.1489;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,115:239:99:3008,0,3254 19 58718269 58718269 G A exonic ZNF274 unknown UNKNOWN 0.12 0.033 0.18 . 0.28 0.16 0.2251 0.0643 0.1424 0.0010 0.2008 0.2987 0.2720 0.1987 0.21 0.062 0.28 0.15 . rs7256349 . . . . . . . . . . . . . 0.478 0.108 T 0.029 0.276 B 0.015 0.246 B 0.231 0.035 N 1 0.090 P 0.895 0.225 L 3.31 0.066 T -0.54 0.166 N 0.016 0.009 -0.921 0.455 T 0.000 0.000 T . . . -0.754 0.042 0.054 0.833 0.142 0.016 0.051 N c -1.214 -1.269 0.018 0.130 0.707 0.730 0 -1.71 0.077 0.261 0.181 0.067 0.174 0.000 0.063 0.000 0.016 3.778 0.081 Krueppel-associated box ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9|ENSG00000198131.9|ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.2158 0.0582 0.1377 0.3446 0.0009 0.1989 0.2899 0.2653 0.1939 0.1876 0.0657 0.1802 0.3433 0.0019 0.2063 0.2678 0.2459 het 364.88 21 19 58718269 . G A 364.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.484;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.35;MQ0=0;MQRankSum=-1.222;QD=17.38;ReadPosRankSum=-1.397;VQSLOD=6.6869;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,15:21:99:395,0,103 19 58718360 58718360 - G exonic ZNF274 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 0.9998 1 1 1 1. 1. 1. 0.022 . rs59557917 COSM5713365;COSM5713366 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 990.98 24 19 58718360 . A AG 990.98 Mask AC=2;AF=1.00;AN=2;DP=24;FS=0.000;HRun=3;HaplotypeScore=54.3756;MQ=60.39;MQ0=0;QD=41.29;set=variant2 GT:AD:DP:GQ:PL 1/1:1,23:24:69.23:1033,69,0 19 58774071 58774071 A G exonic ZNF544 nonsynonymous SNV ZNF544:NM_001320770:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320771:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320773:exon6:c.A2015G:p.Q672R,ZNF544:NM_001320767:exon7:c.A2099G:p.Q700R,ZNF544:NM_001320769:exon7:c.A2099G:p.Q700R,ZNF544:NM_001320774:exon7:c.A1394G:p.Q465R,ZNF544:NM_014480:exon7:c.A2099G:p.Q700R 0.53 0.43 0.54 0.59 0.59 0.52 0.5475 0.4522 0.4455 0.5637 0.5650 0.5705 0.5911 0.5691 0.53 0.47 0.57 0.51 0.59 rs260462 COSM4001035 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.982 0.020 T 0.0 0.186 B 0.0 0.013 B . . . 1 0.090 P -0.38 0.030 N 1.3 0.356 T 0.89 0.016 N 0.009 0.001 -0.971 0.371 T 0.000 0.000 T . . . -0.726 0.044 0.063 0.632 0.070 0.000 0.001 N c -1.765 -1.806 0.148 0.174 0.672 0.522 0 -5.14 0.026 -0.852 0.044 -1.160 0.017 0.000 0.063 0.001 0.043 10.032 0.411 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000268516.1|ENSG00000198131.9|ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000268516.1|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268201.1|ENSG00000198131.9|ENSG00000268516.1|ENSG00000198131.9|ENSG00000268516.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5486 0.4485 0.4625 0.6841 0.5624 0.5722 0.5650 0.5757 0.5606 0.5326 0.4406 0.5012 0.6656 0.5683 0.5719 0.5700 0.5643 hom 7453.54 240 19 58774071 . A G 7453.54 Mask AC=2;AF=1.00;AN=2;DP=240;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.83;MQ0=0;QD=31.06;VQSLOD=9.7002;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,240:240:99:7452,614,0 19 58806083 58806083 T C exonic ZNF8 synonymous SNV ZNF8:NM_021089:exon4:c.T909C:p.H303H 0.38 0.45 0.33 0.5 0.24 0.32 0.3102 0.4279 0.2583 0.4565 0.3861 0.2770 0.3124 0.2997 0.33 0.42 0.28 0.28 0.26 rs260471 COSM3757355 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3107 0.4238 0.2774 0.2647 0.4631 0.3922 0.2738 0.2857 0.2992 0.3485 0.4178 0.2763 0.2318 0.4560 0.3978 0.2931 0.3235 het 1333.54 105 19 58806083 . T C 1333.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.625;DP=105;Dels=0.00;FS=6.225;HRun=0;HaplotypeScore=0.7887;MQ=59.78;MQ0=0;MQRankSum=0.202;QD=12.70;ReadPosRankSum=-0.183;VQSLOD=5.7197;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,52:105:99:1364,0,1440 19 58864479 58864479 T C exonic A1BG nonsynonymous SNV A1BG:NM_130786:exon3:c.A155G:p.H52R 0.85 0.72 0.86 0.91 0.94 0.85 0.9046 0.7586 0.7967 0.9133 0.9636 0.9480 0.9051 0.8688 0.89 0.77 0.95 0.78 0.93 rs893184 COSM3720655 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.778 0.033 T 0.0 0.026 B 0.003 0.080 B 0.006 0.011 N 1 0.090 P -1.425 0.006 N 2.7 0.122 T 1.53 0.007 N 0.018 0.003 -0.990 0.326 T 0.000 0.000 T . . . -0.135 0.081 1.484 0.635 0.071 0.005 0.024 N c -2.070 -2.074 1.000 0.500 0.515 0.199 0 -5.15 0.026 -1.854 0.017 -0.621 0.043 0.000 0.063 0.012 0.117 2.555 0.044 Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000269054.1|ENSG00000268895.1|ENSG00000268895.1|ENSG00000268895.1|ENSG00000121410.7|ENSG00000268230.1|ENSG00000268895.1|ENSG00000121410.7|ENSG00000174586.6|ENSG00000268230.1|ENSG00000268895.1|ENSG00000268895.1|ENSG00000174586.6|ENSG00000268895.1|ENSG00000267216.1|ENSG00000268895.1|ENSG00000268895.1|ENSG00000121410.7|ENSG00000174586.6|ENSG00000268230.1|ENSG00000268895.1|ENSG00000174586.6|ENSG00000268230.1|ENSG00000268895.1|ENSG00000152475.6|ENSG00000174586.6|ENSG00000268230.1|ENSG00000268895.1|ENSG00000268230.1|ENSG00000121410.7|ENSG00000268230.1|ENSG00000268895.1|ENSG00000174586.6|ENSG00000268895.1|ENSG00000121410.7|ENSG00000268230.1|ENSG00000152475.6|ENSG00000268895.1|ENSG00000174586.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.9046 0.7557 0.8084 0.9358 0.9128 0.9621 0.9474 0.9165 0.8703 0.8916 0.7511 0.8079 0.9503 0.9152 0.9548 0.9571 0.9262 hom 5140.82 165 19 58864479 . T C 5140.82 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9446;MQ=59.58;MQ0=0;QD=31.16;VQSLOD=8.5716;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:5140,424,0 19 58868480 58868480 G T exonic ZNF497 nonsynonymous SNV ZNF497:NM_001207009:exon2:c.C522A:p.H174Q,ZNF497:NM_198458:exon3:c.C522A:p.H174Q 0.38 0.49 0.37 0.18 0.4 0.44 0.4124 0.5080 0.2984 0.1861 0.3168 0.4486 0.4304 0.4386 0.47 0.5 0.45 0.38 0.37 rs12609654 COSM3757356 1(pancreas);2(large_intestine) . . . . . . . . . . . 0.131 0.266 T 0.484 0.350 P 0.042 0.227 B . . . 1 0.090 P 0.675 0.164 N 1.3 0.356 T -1.08 0.281 N 0.037 0.132 -0.916 0.462 T 0.000 0.000 T . . . 0.601 0.151 8.165 0.958 0.273 0.058 0.116 N c -1.101 -1.232 1.000 0.517 0.455 0.088 0 -0.577 0.111 -2.622 0.009 0.261 0.268 0.000 0.063 0.325 0.241 5.758 0.173 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000083845.4|ENSG00000131849.10|ENSG00000083845.4|ENSG00000083845.4|ENSG00000174586.6|ENSG00000131849.10|ENSG00000268895.1|ENSG00000171574.13|ENSG00000269473.1|ENSG00000174586.6|ENSG00000213753.6|ENSG00000083845.4|ENSG00000269473.1|ENSG00000268895.1|ENSG00000083845.4|ENSG00000152475.6|ENSG00000171574.13|ENSG00000174586.6|ENSG00000131849.10|ENSG00000268895.1|ENSG00000269473.1|ENSG00000174586.6|ENSG00000269473.1|ENSG00000174586.6|ENSG00000232098.2|ENSG00000131849.10|ENSG00000268895.1|ENSG00000171574.13|ENSG00000121410.7|ENSG00000174586.6|ENSG00000131849.10|ENSG00000268230.1|ENSG00000083845.4|ENSG00000131849.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.3945 0.4948 0.2927 0.5312 0.1728 0.3059 0.4391 0.4268 0.4345 0.4102 0.4873 0.3437 0.5235 0.1882 0.2866 0.4219 0.3773 hom 2050.74 64 19 58868480 . G T 2050.74 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.04;VQSLOD=14.0730;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2084,172,0 19 58928302 58928302 T C exonic ZNF584 synonymous SNV ZNF584:NM_173548:exon4:c.T417C:p.A139A 0.5 0.79 0.38 0.33 0.5 0.38 0.4672 0.7705 0.2901 0.3198 0.5065 0.4830 0.46 0.3967 0.58 0.77 0.48 0.56 0.51 rs10423138 COSM5505528 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4518 0.7789 0.2993 0.4223 0.3211 0.5040 0.4815 0.4533 0.3910 0.5646 0.7688 0.3465 0.4533 0.3178 0.5080 0.5058 0.4702 het 1246.42 109 19 58928302 . T C 1246.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.350;DP=109;Dels=0.00;FS=6.097;HRun=1;HaplotypeScore=0.8667;MQ=59.06;MQ0=0;MQRankSum=-0.368;QD=11.44;ReadPosRankSum=-1.019;VQSLOD=5.3111;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,50:109:99:1276,0,1583 19 58928786 58928786 A G exonic ZNF584 nonsynonymous SNV ZNF584:NM_173548:exon4:c.A901G:p.T301A 0.29 0.46 0.18 0.27 0.25 0.21 0.2603 0.4486 0.1563 0.2588 0.2705 0.2607 0.2379 0.2110 0.33 0.45 0.27 0.36 0.24 rs7257872 . . . . . . . . . . . . . 0.372 0.115 T 0.001 0.067 B 0.005 0.104 B . . . 1 0.090 P 1.105 0.287 L 3.21 0.071 T -0.8 0.221 N 0.031 0.012 -0.933 0.438 T 0.000 0.000 T . . . 0.657 0.157 8.546 0.959 0.275 0.044 0.099 N c -0.878 -0.854 0.043 0.146 0.615 0.372 0 0.242 0.147 -1.788 0.018 0.098 0.198 0.000 0.063 0.956 0.434 1.808 0.029 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000171574.13|ENSG00000171574.13|ENSG00000269473.1|ENSG00000269473.1|ENSG00000269473.1|ENSG00000269473.1|ENSG00000171574.13|ENSG00000268912.1|ENSG00000131849.10 Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2520 0.4571 0.1576 0.2201 0.2571 0.2712 0.2636 0.2349 0.2075 0.3258 0.4529 0.1957 0.2285 0.2537 0.2729 0.2850 0.2704 het 1306.82 110 19 58928786 . A G 1306.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.712;DP=110;Dels=0.00;FS=0.702;HRun=0;HaplotypeScore=4.5573;MQ=58.24;MQ0=0;MQRankSum=0.601;QD=11.88;ReadPosRankSum=-0.421;VQSLOD=5.5319;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,49:110:99:1337,0,1559 19 58929052 58929052 G A exonic ZNF584 synonymous SNV ZNF584:NM_173548:exon4:c.G1167A:p.K389K 0.45 0.6 0.36 0.33 0.5 0.38 0.4495 0.5790 0.2762 0.3199 0.5082 0.4825 0.4493 0.4001 0.52 0.59 0.48 0.51 0.51 rs3764535 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4397 0.5866 0.2892 0.4182 0.3214 0.5067 0.4834 0.4440 0.3965 0.5131 0.5868 0.3413 0.4437 0.3192 0.5086 0.5063 0.4641 het 1270.48 111 19 58929052 . G A 1270.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.571;DP=111;Dels=0.00;FS=2.513;HRun=2;HaplotypeScore=5.7266;MQ=59.17;MQ0=0;MQRankSum=0.514;QD=11.45;ReadPosRankSum=-0.359;VQSLOD=5.2478;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,49:111:99:1300,0,1694 19 58929136 58929136 G A exonic ZNF584 synonymous SNV ZNF584:NM_173548:exon4:c.G1251A:p.K417K 0.5 0.79 0.38 0.33 0.5 0.38 0.4732 0.7709 0.2915 0.3200 0.5080 0.4873 0.4679 0.4176 0.58 0.77 0.48 0.56 0.52 rs3764534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4539 0.7788 0.3016 0.4261 0.3211 0.5059 0.4837 0.4561 0.3952 0.5655 0.7687 0.3508 0.4570 0.3205 0.5089 0.5070 0.4735 het 1671.79 150 19 58929136 . G A 1671.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.127;DP=150;Dels=0.00;FS=3.865;HRun=2;HaplotypeScore=2.6075;MQ=59.16;MQ0=0;MQRankSum=-1.917;QD=11.15;ReadPosRankSum=-0.040;VQSLOD=5.0364;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,64:150:99:1702,0,2268 19 58945962 58945962 C T exonic ZNF132 synonymous SNV ZNF132:NM_003433:exon3:c.G849A:p.K283K 0.96 1. 0.94 0.97 0.93 0.92 0.9453 0.9915 0.9447 0.9807 0.9528 0.9410 0.9393 0.9134 0.96 0.99 0.94 0.97 0.93 rs9941466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9442 0.9910 0.9435 0.9212 0.9804 0.9534 0.9414 0.9349 0.9142 0.9628 0.9918 0.9368 0.9470 0.9821 0.9453 0.9513 0.9399 hom 2139.03 68 19 58945962 . C T 2139.03 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.7340;MQ=58.90;MQ0=0;QD=31.46;VQSLOD=9.2612;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2172,175,0 19 58946056 58946056 G A exonic ZNF132 nonsynonymous SNV ZNF132:NM_003433:exon3:c.C755T:p.P252L 0.5 0.79 0.38 0.33 0.49 0.38 0.4666 0.7689 0.2904 0.3201 0.5074 0.4817 0.4615 0.3996 0.58 0.77 0.48 0.55 0.52 rs1465789 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.65 0.004 N 2.58 0.134 T 2.61 0.002 N 0.036 0.016 -1.068 0.098 T 0.000 0.000 T . . . -1.049 0.030 0.013 0.665 0.078 0.008 0.033 N c -1.696 -1.638 0.072 0.156 0.566 0.321 0 0.98 0.188 -1.020 0.037 -0.501 0.051 0.000 0.063 0.007 0.100 3.708 0.079 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like ENSG00000083845.4|ENSG00000171574.13|ENSG00000268912.1|ENSG00000269473.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000131849.10|ENSG00000131849.10|ENSG00000083845.4|ENSG00000171574.13|ENSG00000268912.1|ENSG00000083807.5|ENSG00000269473.1|ENSG00000131849.10|ENSG00000131849.10|ENSG00000171574.13|ENSG00000269473.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000269473.1|ENSG00000268912.1|ENSG00000269473.1|ENSG00000268912.1|ENSG00000269473.1|ENSG00000131849.10|ENSG00000171574.13|ENSG00000131849.10|ENSG00000083807.5|ENSG00000213753.6|ENSG00000171574.13|ENSG00000268912.1|ENSG00000269473.1|ENSG00000131849.10|ENSG00000131849.10|ENSG00000268912.1|ENSG00000083807.5|ENSG00000131849.10|ENSG00000171574.13|ENSG00000269473.1|ENSG00000131849.10|ENSG00000083845.4|ENSG00000213753.6|ENSG00000171574.13|ENSG00000268912.1|ENSG00000269473.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000131849.10|ENSG00000171574.13|ENSG00000171574.13|ENSG00000268912.1|ENSG00000131849.10|ENSG00000171574.13|ENSG00000269473.1|ENSG00000131849.10|ENSG00000213753.6|ENSG00000171574.13|ENSG00000268912.1|ENSG00000269473.1|ENSG00000131849.10|ENSG00000131849.10|ENSG00000268912.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000083807.5|ENSG00000269473.1|ENSG00000131849.10|ENSG00000131849.10|ENSG00000268912.1|ENSG00000131849.10|ENSG00000232098.2|ENSG00000269473.1|ENSG00000131849.10|ENSG00000171574.13|ENSG00000268912.1|ENSG00000131849.10|ENSG00000171574.13|ENSG00000268912.1|ENSG00000131849.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Hippocampus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.4527 0.7774 0.3014 0.4291 0.3211 0.5063 0.4808 0.4544 0.3963 0.5630 0.7667 0.3473 0.4570 0.3185 0.5086 0.5037 0.4713 het 1242.67 139 19 58946056 . G A 1242.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.682;DP=139;Dels=0.00;FS=1.411;HRun=0;HaplotypeScore=2.5105;MQ=59.57;MQ0=0;MQRankSum=-0.837;QD=8.94;ReadPosRankSum=1.171;VQSLOD=5.9117;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,52:139:99:1273,0,2239 19 58948579 58948579 T C exonic ZNF132 nonsynonymous SNV ZNF132:NM_003433:exon2:c.A67G:p.T23A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.351 0.122 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 N 0 0.065 N 3.46 0.053 T -0.33 0.125 N 0.1 0.103 -0.918 0.458 T 0.006 0.021 T 0.001 0.018 T -0.224 0.074 0.977 0.620 0.067 0.016 0.051 N c -1.664 -1.740 0.239 0.185 0.563 0.310 0 -5.63 0.023 -0.330 0.079 -0.031 0.126 0.000 0.063 0.003 0.074 0.127 0.001 . . . 9.115e-06 0 3.515e-05 0 0 0 9.891e-06 0 0 . . . . . . . . het 997.55 80 19 58948579 . T C 997.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.121;DP=80;Dels=0.00;FS=1.992;HRun=0;HaplotypeScore=2.8278;MQ=59.53;MQ0=0;MQRankSum=2.098;QD=12.47;ReadPosRankSum=-1.656;VQSLOD=3.8073;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,39:80:99:1028,0,1047 19 58982384 58982384 A G exonic ZNF324 synonymous SNV ZNF324:NM_014347:exon4:c.A525G:p.R175R 1. 1. 1. 1. 1. 1. 0.9999 1 1 0.9984 1 1 1 1 . . . 1. 0.95 rs10418774 COSM4594602 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 1 1 0.9983 1 1.0000 1 1 1.0000 1 1 1 0.9994 1 1 1 hom 2565.40 77 19 58982384 . A G 2565.40 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8216;MQ=58.66;MQ0=0;QD=33.32;VQSLOD=8.8876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:77:99:2598,202,0 19 58989495 58989495 A C exonic ZNF446 nonsynonymous SNV ZNF446:NM_001304453:exon3:c.A574C:p.N192H,ZNF446:NM_017908:exon4:c.A574C:p.N192H 0.44 0.61 0.35 0.32 0.47 0.37 0.4349 0.6110 0.2790 0.3097 0.4803 0.4578 0.4327 0.3881 0.51 0.62 0.46 0.42 0.48 rs893185 COSM4001036 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.106 0.196 N 1 0.090 P -1.955 0.002 N 5.44 0.046 T 1.54 0.007 N 0.046 0.026 -1.078 0.078 T 0.000 0.000 T . . . -1.061 0.030 0.012 0.865 0.160 0.002 0.012 N c -1.307 -1.254 1.000 0.747 0.635 0.413 0 1.05 0.192 -1.048 0.036 -0.323 0.076 0.000 0.063 0.010 0.111 3.402 0.069 . ENSG00000083845.4|ENSG00000213753.6|ENSG00000171574.13|ENSG00000269473.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000131849.10|ENSG00000131849.10|ENSG00000083845.4|ENSG00000268912.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000268912.1|ENSG00000269473.1|ENSG00000131849.10|ENSG00000131849.10|ENSG00000083807.5|ENSG00000213753.6|ENSG00000269473.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000131849.10|ENSG00000083807.5|ENSG00000171574.13|ENSG00000269473.1|ENSG00000131849.10|ENSG00000213753.6|ENSG00000171574.13|ENSG00000269473.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000083845.4|ENSG00000171574.13|ENSG00000268912.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000131849.10|ENSG00000171574.13|ENSG00000269473.1|ENSG00000131849.10|ENSG00000131849.10|ENSG00000268912.1|ENSG00000131849.10|ENSG00000269473.1|ENSG00000269473.1|ENSG00000131849.10|ENSG00000268912.1|ENSG00000131849.10|ENSG00000232098.2|ENSG00000131849.10|ENSG00000171574.13|ENSG00000268912.1|ENSG00000131849.10|ENSG00000268912.1|ENSG00000131849.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4248 0.6155 0.2858 0.4272 0.3118 0.4764 0.4579 0.4276 0.3866 0.4987 0.6022 0.3289 0.4570 0.3067 0.4734 0.4792 0.4427 het 1765.25 153 19 58989495 . A C 1765.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.285;DP=153;Dels=0.00;FS=7.179;HRun=0;HaplotypeScore=4.2263;MQ=58.92;MQ0=0;MQRankSum=0.130;QD=11.54;ReadPosRankSum=1.581;VQSLOD=4.6924;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,72:153:99:1795,0,2010 19 58991900 58991900 G A exonic ZNF446 nonsynonymous SNV ZNF446:NM_017908:exon7:c.G1160A:p.R387H 0.28 0.43 0.18 0.26 0.25 0.21 0.2614 0.4285 0.1601 0.2474 0.2705 0.2694 0.2402 0.2061 0.32 0.41 0.28 0.34 0.16 rs882610 COSM3746507 1(liver) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.597 0.110 N 1 0.090 P 2.295 0.656 M 5.05 0.014 T . . . 0.11 0.118 -0.987 0.334 T 0.000 0.000 T . . . 0.534 0.145 7.689 0.752 0.106 0.091 0.148 N c -1.122 -1.196 0.993 0.329 0.635 0.413 0 2.0 0.254 1.275 0.325 0.037 0.153 0.002 0.151 0.001 0.043 6.263 0.200 . ENSG00000269473.1|ENSG00000171574.13|ENSG00000171574.13|ENSG00000269473.1|ENSG00000269473.1|ENSG00000269473.1|ENSG00000268912.1|ENSG00000131849.10|ENSG00000269600.1 Adipose_Visceral_Omentum|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood 0.2526 0.4254 0.1588 0.2340 0.2466 0.2689 0.2714 0.2384 0.2040 0.3203 0.4188 0.1897 0.2318 0.2432 0.2722 0.2946 0.2769 het 596.49 67 19 58991900 . G A 596.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.070;DP=67;Dels=0.00;FS=3.501;HRun=0;HaplotypeScore=3.7624;MQ=60.00;MQ0=0;MQRankSum=-0.505;QD=8.90;ReadPosRankSum=-0.671;VQSLOD=4.9178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,27:67:99:626,0,1041 19 59082605 59082605 C T exonic MZF1 nonsynonymous SNV MZF1:NM_001267033:exon2:c.G152A:p.R51H,MZF1:NM_003422:exon2:c.G152A:p.R51H,MZF1:NM_198055:exon2:c.G152A:p.R51H 0.21 0.069 0.24 0.3 0.27 0.21 0.2572 0.0919 0.2741 0.3106 0.3419 0.2787 0.2573 0.2036 0.22 0.093 0.28 0.18 0.2 rs3752109 . . . . . . . . . . . . . 0.155 0.241 T 0.002 0.090 B 0.002 0.063 B 0.996 0.080 N 1 0.090 P 0.815 0.209 L 3.65 0.059 T -1.1 0.285 N 0.075 0.065 -0.921 0.455 T 0.000 0.000 T . . . 1.355 0.227 12.56 0.978 0.354 0.026 0.071 N c -1.168 -1.223 1.000 0.747 0.672 0.522 0 -1.86 0.073 -1.658 0.021 -0.491 0.052 0.000 0.063 0.861 0.359 7.716 0.277 Retrovirus capsid\x2c C-terminal|SCAN domain;SCAN domain ENSG00000171574.13|ENSG00000269473.1|ENSG00000099326.4|ENSG00000171574.13|ENSG00000269600.1 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Whole_Blood 0.2574 0.0837 0.2656 0.2100 0.3017 0.3319 0.2788 0.2343 0.1985 0.2457 0.0911 0.2656 0.22 0.2906 0.3280 0.3097 0.2700 het 593.21 34 19 59082605 . C T 593.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.595;DP=34;Dels=0.00;FS=3.000;HRun=0;HaplotypeScore=1.7219;MQ=60.00;MQ0=0;MQRankSum=1.423;QD=17.45;ReadPosRankSum=-0.162;VQSLOD=5.7968;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,22:34:99:623,0,337 20 76962 76962 T C exonic DEFB125 synonymous SNV DEFB125:NM_153325:exon2:c.T375C:p.S125S 0.77 0.81 0.79 0.71 0.82 0.72 0.7862 0.8093 0.7293 0.6921 0.7867 0.8177 0.7919 0.7324 0.81 0.82 0.81 0.79 0.8 rs6111385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7838 0.8081 0.7352 0.8756 0.6872 0.7851 0.8135 0.8125 0.7360 0.8004 0.8170 0.7578 0.8775 0.6745 0.7818 0.8090 0.8082 hom 7764.51 246 20 76962 . T C 7764.51 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.039;DP=246;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3183;MQ=59.06;MQ0=1;MQRankSum=1.746;QD=31.56;ReadPosRankSum=0.961;VQSLOD=5.7983;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:4,242:246:99:7631,506,0 20 126311 126312 CC - exonic DEFB126 frameshift deletion DEFB126:NM_030931:exon2:c.314_315del:p.P106Rfs*26 . . . . . . 0.5534 0.5569 0.5213 0.5055 0.4917 0.5606 0.5618 0.5938 0.57 0.56 0.57 0.033 . rs386393058 COSM1413284 23(upper_aerodigestive_tract);4(central_nervous_system) Benign not_specified RCV000455278.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5518 0.5529 0.5176 0.6865 0.5074 0.4929 0.5562 0.5645 0.5924 0.5362 0.5448 0.5419 0.6833 0.4918 0.4820 0.5454 0.5357 het 1611.40 140 20 126310 . ACC A 1611.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.797;DP=140;FS=0.000;HRun=5;HaplotypeScore=481.2378;MQ=58.56;MQ0=1;MQRankSum=-0.384;QD=11.43;ReadPosRankSum=0.176;set=variant2 GT:AD:DP:GQ:PL 0/1:93,48:140:99:1650,0,3804 20 139456 139456 G A exonic DEFB127 nonsynonymous SNV DEFB127:NM_139074:exon2:c.G91A:p.G31R 0.32 0.042 0.35 0.54 0.34 0.44 0.3603 0.0830 0.3821 0.5218 0.4071 0.3516 0.3808 0.4506 0.26 0.09 0.35 0.16 0.34 rs12624954 COSM3758443 2(haematopoietic_and_lymphoid_tissue);1(pancreas);2(large_intestine) . . . . . . . . . . . 0.043 0.413 D 1.0 0.899 D 1.0 0.971 D 0.005 0.337 N 1 0.090 P . . . 0.01 0.625 T -7.92 0.962 D 0.327 0.388 -0.908 0.471 T 0.000 0.000 T . . . 3.679 0.499 23.3 0.997 0.791 0.521 0.288 D c 0.125 -0.046 0.001 0.074 0.487 0.133 0 3.12 0.348 3.255 0.509 0.805 0.326 0.953 0.330 0.042 0.158 9.978 0.408 . . . 0.3689 0.0787 0.3783 0.3781 0.5260 0.4141 0.3512 0.3380 0.4489 0.2995 0.0881 0.3783 0.34 0.5106 0.4129 0.3627 0.3852 het 747.79 66 20 139456 . G A 747.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.465;DP=66;Dels=0.00;FS=2.018;HRun=2;HaplotypeScore=0.0000;MQ=59.08;MQ0=0;MQRankSum=1.770;QD=11.33;ReadPosRankSum=0.581;VQSLOD=6.1477;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,29:66:99:778,0,955 20 139576 139576 C A exonic DEFB127 nonsynonymous SNV DEFB127:NM_139074:exon2:c.C211A:p.R71S 0.32 0.043 0.35 0.54 0.34 0.44 0.3608 0.0833 0.3825 0.5188 0.4077 0.3522 0.3797 0.4509 0.26 0.091 0.35 0.16 0.34 rs16995685 COSM3758444 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.186 0.214 T 0.057 0.214 B 0.028 0.201 B 0.657 0.105 N 1 0.090 P . . . 2.44 0.152 T -0.76 0.212 N 0.044 0.024 -0.926 0.448 T 0.000 0.000 T . . . 0.085 0.102 3.449 0.748 0.105 0.034 0.083 N c -1.130 -1.199 0.000 0.029 0.487 0.133 0 1.24 0.203 0.601 0.236 -0.077 0.119 0.004 0.165 0.005 0.090 4.032 0.091 . . . 0.3689 0.0786 0.3785 0.3786 0.5227 0.4146 0.3514 0.3375 0.4492 0.2993 0.0880 0.3768 0.3377 0.5081 0.4127 0.3629 0.3848 het 456.85 59 20 139576 . C A 456.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.395;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9142;MQ=59.68;MQ0=0;MQRankSum=2.955;QD=7.74;ReadPosRankSum=-0.815;VQSLOD=4.5808;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,18:59:99:487,0,1043 20 168728 168728 T A exonic DEFB128 nonsynonymous SNV DEFB128:NM_001037732:exon2:c.A81T:p.K27N 0.61 0.79 0.59 0.46 0.61 0.55 0.5851 0.7576 0.5772 0.4804 0.5360 0.5901 0.5859 0.5362 0.65 0.76 0.59 0.77 0.57 rs4813043 COSM5905123 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.102 0.198 N 1 0.090 P . . . 2.78 0.113 T 2.91 0.002 N 0.036 0.016 -0.995 0.313 T 0.000 0.000 T . . . -2.011 0.008 0.001 0.458 0.036 0.002 0.010 N c -1.774 -1.817 0.000 0.012 0.487 0.133 0 -2.27 0.064 -0.844 0.044 -1.149 0.017 0.000 0.063 0.000 0.016 2.107 0.034 . . . 0.5792 0.7593 0.5778 0.5881 0.4750 0.5255 0.5907 0.6168 0.5375 0.6189 0.7626 0.5883 0.61 0.4956 0.5270 0.5763 0.5490 het 2844.46 228 20 168728 . T A 2844.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.756;DP=228;DS;Dels=0.00;FS=3.030;HRun=0;HaplotypeScore=2.7649;MQ=58.34;MQ0=0;MQRankSum=-0.320;QD=12.48;ReadPosRankSum=0.142;VQSLOD=5.3200;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:118,110:228:99:2874,0,3157 20 210061 210061 G A exonic DEFB129 synonymous SNV DEFB129:NM_080831:exon2:c.G201A:p.L67L 0.27 0.033 0.38 0.29 0.39 0.38 0.3728 0.0760 0.4044 0.2447 0.3925 0.4202 0.3786 0.4048 0.3 0.09 0.41 0.17 0.38 rs13045643 COSM149121 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3796 0.0721 0.4031 0.4515 0.2475 0.4036 0.4164 0.3878 0.4055 0.3157 0.0833 0.3741 0.4067 0.2391 0.3939 0.4300 0.4049 het 801.97 60 20 210061 . G A 801.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.022;DP=60;Dels=0.00;FS=3.600;HRun=0;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=2.125;QD=13.37;ReadPosRankSum=-0.149;VQSLOD=5.5764;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,33:60:99:832,0,714 20 238436 238441 TGGTCT - exonic DEFB132 nonframeshift deletion DEFB132:NM_207469:exon1:c.17_22del:p.V7_L8del . . . . . . 0.5892 0.6234 0.4385 0.6749 0.6119 0.5929 0.6089 0.6030 0.61 0.63 0.6 . . rs66489228 COSM1163662 1(kidney);1(pancreas);1(liver);18(upper_aerodigestive_tract);4(central_nervous_system);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5902 0.6243 0.4601 0.5151 0.6908 0.6055 0.6076 0.6137 0.6036 0.6047 0.6158 0.5108 0.5235 0.6911 0.6112 0.5943 0.6055 het 1314.87 69 20 238435 . CTGGTCT C 1314.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.258;DP=69;FS=3.561;HRun=0;HaplotypeScore=437.8895;MQ=53.60;MQ0=0;MQRankSum=-4.347;QD=19.06;ReadPosRankSum=-0.861;set=variant2 GT:AD:DP:GQ:PL 0/1:46,23:69:99:1354,0,4359 20 256727 256727 T A exonic C20orf96 nonsynonymous SNV C20orf96:NM_080571:exon10:c.A910T:p.I304F,C20orf96:NM_153269:exon10:c.A913T:p.I305F 0.64 0.74 0.49 0.69 0.63 0.55 0.6024 0.7205 0.4895 0.7097 0.6312 0.6027 0.5762 0.5396 0.65 0.73 0.62 0.71 0.6 rs3827147 . . . . . . . . . . . . . 0.418 0.099 T 0.0 0.026 B 0.0 0.013 B 0.869 0.088 N 1 0.090 P -1.87 0.003 N 1.1 0.390 T 0.29 0.042 N 0.021 0.022 -0.989 0.329 T 0.000 0.000 T . . . -0.591 0.050 0.131 0.182 0.006 0.006 0.027 N c -1.438 -1.358 0.121 0.169 0.707 0.730 0 -1.09 0.093 0.091 0.148 -0.164 0.107 0.264 0.248 0.191 0.215 3.58 0.074 . ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7|ENSG00000196476.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Thyroid|Whole_Blood 0.5972 0.7174 0.4947 0.6205 0.7091 0.6225 0.6045 0.5773 0.5376 0.6452 0.7208 0.5263 0.6291 0.6904 0.6179 0.6121 0.6063 hom 2621.36 91 20 256727 . T A 2621.36 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9933;MQ=59.08;MQ0=0;QD=28.81;VQSLOD=8.6968;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2654,211,0 20 257733 257733 A G exonic C20orf96 synonymous SNV C20orf96:NM_080571:exon8:c.T774C:p.S258S,C20orf96:NM_153269:exon8:c.T777C:p.S259S 0.65 0.76 0.51 0.69 0.64 0.55 0.6197 0.7387 0.4976 0.7099 0.6453 0.6261 0.5914 0.5489 0.68 0.74 0.64 0.7 0.55 rs2277781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6139 0.7362 0.5035 0.6311 0.7095 0.6366 0.6290 0.5927 0.5471 0.6641 0.7370 0.5394 0.6424 0.6906 0.6317 0.6362 0.6273 hom 8246.66 250 20 257733 . A G 8246.66 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7852;MQ=59.42;MQ0=0;QD=32.99;VQSLOD=8.8103;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8213,671,0 20 259818 259818 G A exonic C20orf96 synonymous SNV C20orf96:NM_080571:exon5:c.C457T:p.L153L,C20orf96:NM_153269:exon5:c.C460T:p.L154L 0.3 0.21 0.26 0.33 0.36 0.35 0.3700 0.2480 0.3092 0.3657 0.4285 0.4016 0.3967 0.3373 0.33 0.23 0.38 . 0.41 rs6035541 COSM443588;COSM3758504;COSM5828988 2(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3577 0.2346 0.2998 0.3606 0.3637 0.4175 0.3897 0.3503 0.3271 0.3512 0.2389 0.3220 0.3566 0.3594 0.4007 0.4033 0.3796 hom 1367.38 43 20 259818 . G A 1367.38 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9993;MQ=59.46;MQ0=0;QD=31.80;VQSLOD=9.1893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1400,114,0 20 259969 259969 G C exonic C20orf96 synonymous SNV C20orf96:NM_080571:exon5:c.C306G:p.T102T,C20orf96:NM_153269:exon5:c.C309G:p.T103T 0.67 0.84 0.49 0.79 0.56 0.54 0.5762 0.8013 0.4969 0.8125 0.4874 0.5498 0.5361 0.5125 0.64 0.79 0.56 0.011 0.52 rs7271033 COSM3758506;COSM5828989;COSM3758505 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5650 0.8017 0.4963 0.5210 0.8164 0.4782 0.5487 0.5415 0.5081 0.6275 0.8026 0.5133 0.5567 0.8278 0.4686 0.5543 0.5481 hom 1658.86 61 20 259969 . G C 1658.86 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.62;MQ0=0;QD=27.19;VQSLOD=6.7040;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1692,144,0 20 278806 278806 C T exonic ZCCHC3 synonymous SNV ZCCHC3:NM_033089:exon1:c.C579T:p.S193S 0.17 0.0098 0.14 0.33 0.27 0.14 0.2523 0.0504 0.1882 0.3497 0.3318 0.2960 0.2728 0.1474 0.21 0.046 0.28 0.065 0.19 rs1057189 COSM5619456 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2443 0.0429 0.1844 0.1586 0.3569 0.3264 0.2918 0.2425 0.1456 0.2359 0.0542 0.1962 0.1556 0.3546 0.3282 0.3075 0.2969 het 849.99 59 20 278806 . C T 849.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.797;DP=59;Dels=0.00;FS=2.831;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;MQRankSum=1.704;QD=14.41;ReadPosRankSum=-0.521;VQSLOD=5.1585;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,30:59:99:880,0,645 20 333871 333871 G A exonic NRSN2 synonymous SNV NRSN2:NM_001323680:exon4:c.G207A:p.G69G,NRSN2:NM_001323681:exon4:c.G207A:p.G69G,NRSN2:NM_001323685:exon4:c.G207A:p.G69G,NRSN2:NM_024958:exon4:c.G207A:p.G69G,NRSN2:NM_001323679:exon5:c.G207A:p.G69G,NRSN2:NM_001323682:exon5:c.G207A:p.G69G,NRSN2:NM_001323683:exon5:c.G207A:p.G69G,NRSN2:NM_001323684:exon5:c.G207A:p.G69G 0.0038 0.0008 0.0058 . 0.012 0.002 0.0076 0.0025 0.0033 0 0.0030 0.0117 0.0055 0.0034 0.012 0.0027 0.017 . 0.0082 rs34012633 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0086 0.0020 0.0051 0.0222 0 0.0036 0.0132 0.0073 0.0035 0.0078 0.0039 0.0072 0.0099 0 0.0029 0.0120 0.0092 het 2104.37 171 20 333871 . G A 2104.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.731;DP=171;Dels=0.00;FS=4.572;HRun=1;HaplotypeScore=5.4669;MQ=60.00;MQ0=0;MQRankSum=0.514;QD=12.31;ReadPosRankSum=-1.187;VQSLOD=3.7586;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:85,85:171:99:2134,0,2201 20 368905 368905 A G exonic TRIB3 nonsynonymous SNV TRIB3:NM_001301188:exon2:c.A251G:p.Q84R,TRIB3:NM_001301190:exon2:c.A251G:p.Q84R,TRIB3:NM_001301193:exon2:c.A251G:p.Q84R,TRIB3:NM_001301196:exon2:c.A251G:p.Q84R,TRIB3:NM_021158:exon2:c.A251G:p.Q84R,TRIB3:NM_001301201:exon3:c.A332G:p.Q111R 0.2 0.16 0.084 0.19 0.14 0.4 0.1834 0.1675 0.0750 0.1975 0.1844 0.1517 0.1944 0.3859 0.16 0.16 0.16 0.14 0.18 rs2295490 COSM3723968 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.092 0.203 N 1.000 0.201 P -1.585 0.004 N 2.22 0.182 T 2.13 0.004 N 0.054 0.349 -0.983 0.343 T 0.000 0.000 T . . . 0.260 0.119 5.294 0.152 0.004 0.074 0.133 N c -0.838 -0.595 1.000 0.747 0.707 0.730 0 4.49 0.540 6.052 0.705 0.076 0.183 1.000 0.715 0.485 0.268 10.487 0.437 Protein kinase domain|Protein kinase-like domain . . 0.1785 0.1622 0.0777 0.2220 0.1923 0.1820 0.1484 0.1634 0.3829 0.1606 0.1658 0.0779 0.2067 0.1930 0.1823 0.1528 0.1602 het 630.39 48 20 368905 . A G 630.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.701;DP=48;Dels=0.00;FS=2.621;HRun=2;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-2.031;QD=13.13;ReadPosRankSum=-1.227;VQSLOD=5.3210;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,24:48:99:660,0,657 20 371972 371972 T C exonic TRIB3 synonymous SNV TRIB3:NM_001301188:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301190:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301193:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301196:exon3:c.T333C:p.Y111Y,TRIB3:NM_021158:exon3:c.T333C:p.Y111Y,TRIB3:NM_001301201:exon4:c.T414C:p.Y138Y 0.72 0.87 0.5 0.72 0.54 0.84 0.6356 0.8320 0.4906 0.7515 0.5582 0.5783 0.6387 0.8145 0.65 0.82 0.56 0.72 0.53 rs6051637 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6199 0.8342 0.4922 0.6153 0.7442 0.5533 0.5699 0.5951 0.8159 0.6383 0.8339 0.4952 0.6391 0.7429 0.5656 0.5421 0.5774 het 1371.42 122 20 371972 . T C 1371.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.463;DP=122;Dels=0.00;FS=1.614;HRun=0;HaplotypeScore=4.5793;MQ=59.12;MQ0=0;MQRankSum=1.780;QD=11.24;ReadPosRankSum=-2.810;VQSLOD=4.2107;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,56:122:99:1401,0,1769 20 391170 391170 C T exonic RBCK1 synonymous SNV RBCK1:NM_001323960:exon3:c.C282T:p.Y94Y 0.4 0.37 0.38 0.34 0.5 0.43 0.4374 0.3609 0.3408 0.3356 0.5607 0.4784 0.4896 0.3868 0.45 0.38 0.48 0.46 . rs7059 COSN8868617;COSN8868616;COSN15316697 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4366 0.3617 0.3409 0.4175 0.3402 0.5633 0.4807 0.4533 0.3888 0.4605 0.3709 0.3445 0.4503 0.3364 0.5628 0.5054 0.5102 hom 1800.06 62 20 391170 . C T 1800.06 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.02;MQ0=0;QD=29.03;VQSLOD=8.3629;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1833,147,0 20 590456 590456 A G exonic TCF15 synonymous SNV TCF15:NM_004609:exon1:c.T426C:p.R142R 0.86 0.74 0.9 1. 0.81 0.91 0.8370 0.7540 0.8995 0.9998 0.8102 0.7987 0.8386 0.8941 0.79 0.76 0.8 0.3 0.52 rs282164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8237 0.7198 0.8931 0.8226 0.9992 0.8147 0.7764 0.7904 0.8888 0.8047 0.7533 0.8926 0.8414 1 0.8360 0.7982 0.8430 het 33.03 14 20 590456 . A G 33.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.713;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.311;QD=2.36;ReadPosRankSum=-1.090;VQSLOD=7.9895;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,3:14:63.02:63,0,329 20 590542 590542 C G exonic TCF15 nonsynonymous SNV TCF15:NM_004609:exon1:c.G340C:p.V114L 0.99 1. 1. 0.98 1. 1. 1 1 1 1 1 1 1 1 . . . . 0.9 rs2754502 COSM3758671 23(upper_aerodigestive_tract);12(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.436 N 0.997 0.227 P -3.62 0.000 N -2.32 0.878 D 2.89 0.002 N 0.147 0.447 -0.923 0.451 T 0.000 0.000 T . . . 1.732 0.269 14.59 0.894 0.182 0.136 0.178 N c -1.090 -0.735 1.000 0.473 0.726 0.872 0 3.11 0.347 3.348 0.517 0.012 0.140 1.000 0.715 0.990 0.544 7.467 0.263 Myc-type\x2c basic helix-loop-helix (bHLH) domain . . 1.0000 1 1 1 1 1 1.0000 1 1.0000 1 1 1 1 1 1 1 1 hom 581.40 20 20 590542 . C G 581.40 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56.45;MQ0=0;QD=29.07;VQSLOD=7.3691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.15:614,48,0 20 590543 590543 G C exonic TCF15 synonymous SNV TCF15:NM_004609:exon1:c.C339G:p.T113T 1. 1. 1. 0.98 1. 1. 1 1 1 1 1 1 1 1 . . . . 0.92 rs2665781 COSM3758672 1(upper_aerodigestive_tract);12(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 hom 550.04 20 20 590543 . G C 550.04 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.45;MQ0=0;QD=27.50;VQSLOD=7.0550;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:48.14:583,48,0 20 741847 741847 A G exonic SLC52A3 synonymous SNV SLC52A3:NM_033409:exon5:c.T1233C:p.S411S 0.66 0.64 0.65 0.52 0.72 0.75 0.7022 0.6578 0.6188 0.5278 0.7377 0.7152 0.696 0.7341 0.7 0.65 0.73 0.64 0.21 rs910857 COSM3758788 1(thyroid);2(large_intestine) Benign not_specified RCV000244024.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6812 0.6216 0.5996 0.7054 0.5239 0.7355 0.7144 0.6850 0.7298 0.6877 0.6403 0.6289 0.6867 0.5247 0.7414 0.7223 0.7082 hom 229.43 10 20 741847 . A G 229.43 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.94;VQSLOD=12.5642;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:21.06:262,21,0 20 744450 744450 G A exonic SLC52A3 synonymous SNV SLC52A3:NM_033409:exon3:c.C765T:p.L255L 0.31 0.13 0.48 0.12 0.49 0.44 0.4312 0.1723 0.5354 0.1467 0.5306 0.4683 0.4482 0.4793 0.38 0.18 0.48 0.36 0.47 rs3746805 COSM5654391;COSM5654390 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000252910.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4383 0.1690 0.5112 0.4773 0.1418 0.5201 0.4682 0.4502 0.4767 0.3773 0.1829 0.5179 0.4669 0.1460 0.5249 0.4669 0.4480 het 796.41 68 20 744450 . G A 796.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.637;DP=68;Dels=0.00;FS=0.938;HRun=1;HaplotypeScore=2.4602;MQ=58.98;MQ0=0;MQRankSum=0.282;QD=11.71;ReadPosRankSum=-0.019;VQSLOD=6.7515;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:826,0,965 20 1099523 1099523 T G exonic PSMF1 nonsynonymous SNV PSMF1:NM_001323408:exon1:c.T107G:p.F36C,PSMF1:NM_001323409:exon1:c.T107G:p.F36C,PSMF1:NM_001323410:exon1:c.T107G:p.F36C,PSMF1:NM_006814:exon1:c.T107G:p.F36C,PSMF1:NM_178578:exon2:c.T107G:p.F36C 0.73 0.81 0.77 0.46 0.84 0.76 0.7856 0.8138 0.7793 0.4701 0.7985 0.8263 0.7786 0.7675 0.82 0.81 0.83 0.78 0.88 rs1803415 COSM3758429;COSM3758430 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.097 0.312 T 0.0 0.026 B 0.001 0.063 B 0.240 0.157 N 1.000 0.501 P -0.69 0.019 N 0.99 0.418 T -0.03 0.085 N 0.124 0.482 -1.057 0.125 T 0.000 0.000 T . . . 1.159 0.206 11.53 0.758 0.108 0.027 0.073 N c -1.089 -1.010 1.000 0.747 0.442 0.072 0 1.94 0.249 -0.083 0.112 -0.176 0.105 0.003 0.159 0.165 0.209 3.095 0.059 PI31 proteasome regulator\x2c N-terminal ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Thyroid 0.7828 0.8165 0.7793 0.7892 0.4689 0.7974 0.8289 0.7890 0.7671 0.8033 0.8137 0.7947 0.7914 0.4783 0.7911 0.8364 0.7935 het 1603.10 112 20 1099523 . T G 1603.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.463;DP=112;Dels=0.00;FS=3.548;HRun=0;HaplotypeScore=3.6168;MQ=59.42;MQ0=0;MQRankSum=-1.895;QD=14.31;ReadPosRankSum=-1.791;VQSLOD=4.2780;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,58:112:99:1633,0,1404 20 1115919 1115919 A G exonic PSMF1 nonsynonymous SNV PSMF1:NM_001323407:exon4:c.A257G:p.H86R,PSMF1:NM_001323408:exon4:c.A521G:p.H174R,PSMF1:NM_001323409:exon4:c.A521G:p.H174R,PSMF1:NM_001323410:exon4:c.A521G:p.H174R,PSMF1:NM_006814:exon4:c.A521G:p.H174R,PSMF1:NM_178578:exon5:c.A521G:p.H174R 0.2 0.012 0.21 0.48 0.15 0.22 0.1778 0.0299 0.2083 0.4761 0.1652 0.1496 0.1756 0.2126 0.11 0.034 0.15 0.13 0.11 rs2235587 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.065 0.219 N 0.991 0.588 P -0.975 0.012 N 1.73 0.264 T 0.75 0.020 N 0.039 0.312 -0.932 0.439 T 0.000 0.000 T . . . -1.380 0.020 0.003 0.209 0.008 0.538 0.292 D c -1.109 -0.847 0.046 0.147 0.707 0.730 0 2.91 0.328 1.104 0.305 -0.153 0.108 0.048 0.211 0.004 0.083 5.655 0.168 . ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13|ENSG00000125818.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Thyroid 0.1825 0.0278 0.2054 0.1902 0.4750 0.1649 0.1473 0.1818 0.2083 0.1308 0.0317 0.1890 0.1722 0.4740 0.1666 0.1368 0.1653 het 577.70 59 20 1115919 . A G 577.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.879;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;MQRankSum=-0.422;QD=9.79;ReadPosRankSum=0.084;VQSLOD=6.3549;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,25:59:99:608,0,918 20 1285933 1285933 G A exonic SNPH synonymous SNV SNPH:NM_014723:exon6:c.G720A:p.G240G,SNPH:NM_001318234:exon7:c.G852A:p.G284G 0.39 0.4 0.33 0.54 0.32 0.36 0.3419 0.3868 0.3014 0.5540 0.4107 0.3096 0.3756 0.3304 0.32 0.38 0.29 0.4 0.2 rs3795139 COSM3758431;COSM3758432 1(haematopoietic_and_lymphoid_tissue);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3391 0.3865 0.3044 0.3530 0.5525 0.4065 0.2966 0.3489 0.3341 0.3413 0.3724 0.2864 0.3609 0.5273 0.3995 0.2928 0.3330 het 679.10 49 20 1285933 . G A 679.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.870;DP=49;Dels=0.00;FS=4.301;HRun=0;HaplotypeScore=0.9989;MQ=58.67;MQ0=0;MQRankSum=2.050;QD=13.86;ReadPosRankSum=-1.130;VQSLOD=4.8329;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,25:49:99:709,0,718 20 1293008 1293008 C T exonic SDCBP2 synonymous SNV SDCBP2:NM_015685:exon3:c.G450A:p.V150V,SDCBP2:NM_001199784:exon7:c.G705A:p.V235V,SDCBP2:NM_080489:exon7:c.G705A:p.V235V 0.67 0.56 0.61 0.91 0.54 0.72 0.6033 0.5711 0.7274 0.9038 0.6826 0.5172 0.6123 0.6913 0.52 0.56 0.5 0.65 0.42 rs2273958 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6027 0.5583 0.7023 0.4743 0.9060 0.6679 0.5089 0.5603 0.6848 0.5824 0.5713 0.6766 0.4603 0.9164 0.6612 0.5305 0.5982 hom 1201.71 35 20 1293008 . C T 1201.71 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.00;MQ0=0;QD=34.33;VQSLOD=8.4023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:99:1235,99,0 20 1298963 1298963 C T exonic SDCBP2 nonsynonymous SNV SDCBP2:NM_001199784:exon4:c.G224A:p.S75N,SDCBP2:NM_080489:exon4:c.G224A:p.S75N . . . . . . 8.359e-06 0 0 0 0 1.513e-05 0 0 . . . . . rs751579851 . . . . . . . . . . . . . 0.428 0.096 T 0.002 0.090 B 0.002 0.063 B 0.358 0.137 N 1 0.090 N 0.235 0.097 N 1.54 0.301 T -0.31 0.121 N 0.011 0.001 -0.994 0.316 T 0.029 0.126 T 0.003 0.075 T -0.479 0.057 0.248 0.743 0.103 0.019 0.057 N c -1.121 -1.114 1.000 0.405 0.615 0.372 0 0.345 0.152 -0.199 0.094 0.024 0.147 0.000 0.063 0.047 0.162 4.245 0.100 . . . 4.074e-06 0 0 0 0 0 8.991e-06 0 0 . . . . . . . . het 1020.07 103 20 1298963 . C T 1020.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.193;DP=103;Dels=0.00;FS=0.766;HRun=1;HaplotypeScore=1.7262;MQ=59.78;MQ0=0;MQRankSum=0.084;QD=9.90;ReadPosRankSum=-1.443;VQSLOD=4.5082;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,44:103:99:1050,0,1572 20 1426393 1426393 C T exonic NSFL1C nonsynonymous SNV NSFL1C:NM_018839:exon7:c.G775A:p.D259N,NSFL1C:NM_016143:exon8:c.G868A:p.D290N 0.47 0.25 0.51 0.79 0.41 0.45 0.4466 0.2693 0.6044 0.7945 0.4197 0.4141 0.4086 0.4096 0.36 0.28 0.41 0.46 0.34 rs9575 . . . . . . . . . . . . . 0.179 0.220 T 0.027 0.206 B 0.007 0.173 B 0.000 0.445 N 0.000 0.530 P 1.78 0.463 L 0.91 0.449 T -3.3 0.660 D 0.0 0.006 -1.007 0.278 T 0.000 0.000 T . . . 2.866 0.405 21.7 0.986 0.431 0.824 0.413 D c -0.746 -0.730 0.008 0.116 0.707 0.730 0 -1.35 0.086 1.236 0.321 -0.404 0.062 0.991 0.370 0.854 0.356 9.160 0.360 SEP domain|Ubiquitin-related domain;UBX domain|Ubiquitin-related domain ENSG00000088833.13|ENSG00000088833.13|ENSG00000088833.13|ENSG00000088833.13|ENSG00000088833.13|ENSG00000088833.13|ENSG00000088833.13 Adipose_Subcutaneous|Artery_Tibial|Colon_Sigmoid|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.4557 0.2666 0.5829 0.3596 0.8082 0.4170 0.4188 0.4269 0.4112 0.4038 0.2751 0.5468 0.3874 0.7985 0.4241 0.4227 0.4151 het 3059.34 231 20 1426393 . C T 3059.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.871;DP=231;DS;Dels=0.00;FS=0.486;HRun=1;HaplotypeScore=5.3165;MQ=58.86;MQ0=0;MQRankSum=-0.465;QD=13.24;ReadPosRankSum=2.009;VQSLOD=4.4922;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,113:231:99:3089,0,2954 20 1459060 1459060 T G exonic SIRPB2 nonsynonymous SNV SIRPB2:NM_001122962:exon3:c.A644C:p.E215A,SIRPB2:NM_001134836:exon3:c.A350C:p.E117A 0.95 0.99 0.92 1. 0.87 0.98 0.9150 0.9789 0.9338 0.9951 0.8509 0.8858 0.8764 0.9674 0.91 0.98 0.89 0.97 0.85 rs6042507 . . . . . . . . . . . . . 0.207 0.198 T 0.0 0.026 B 0.001 0.040 B 0.746 0.065 N 1 0.090 P 0.45 0.128 N -0.15 0.652 T 1.45 0.008 N 0.036 0.044 -0.979 0.352 T 0.000 0.000 T . . . -0.216 0.075 1.014 0.870 0.164 0.016 0.051 N c -1.329 -1.299 1.000 0.747 0.722 0.854 0 2.96 0.332 0.291 0.186 -0.305 0.080 0.000 0.063 0.020 0.134 3.080 0.058 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9125 0.9799 0.9313 0.8463 0.9964 0.8522 0.8880 0.8940 0.9680 0.9159 0.9777 0.9258 0.8642 0.9926 0.8521 0.8886 0.8908 hom 5338.02 165 20 1459060 . T G 5338.02 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=59.43;MQ0=0;QD=32.35;VQSLOD=9.9635;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:5337,436,0 20 1532595 1532595 T C exonic SIRPD nonsynonymous SNV SIRPD:NM_178460:exon2:c.A163G:p.N55D 0.84 0.94 0.68 0.79 0.86 0.86 0.8378 0.9185 0.6408 0.8127 0.8643 0.8567 0.8513 0.8497 0.87 0.92 0.85 0.85 0.89 rs2249317 . . . . . . . . . . . . . 0.293 0.148 T 0.0 0.026 B 0.0 0.013 B 0.497 0.051 N 1 0.090 P -1.615 0.004 N -0.12 0.646 T 0.2 0.176 N 0.006 0.000 -0.980 0.351 T 0.000 0.000 T . . . 0.253 0.118 5.226 0.843 0.147 0.000 0.002 N c -1.555 -1.524 0.005 0.110 0.516 0.203 0 -2.05 0.069 -0.312 0.081 -0.063 0.121 0.000 0.063 0.240 0.226 3.063 0.058 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000242324.1|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000260861.2|ENSG00000125900.8|ENSG00000101307.11|ENSG00000101307.11|ENSG00000271523.1|ENSG00000125900.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.8287 0.9216 0.6537 0.8784 0.8140 0.8674 0.8531 0.8407 0.8480 0.8665 0.9168 0.6442 0.9073 0.8143 0.8757 0.8536 0.8442 het 1160.14 116 20 1532595 . T C 1160.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.281;DP=116;Dels=0.00;FS=0.689;HRun=0;HaplotypeScore=0.9894;MQ=58.31;MQ0=0;MQRankSum=-0.078;QD=10.00;ReadPosRankSum=0.740;VQSLOD=5.7083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,51:116:99:1190,0,1787 20 1538266 1538266 G A exonic SIRPD synonymous SNV SIRPD:NM_178460:exon1:c.C34T:p.L12L 0.095 0.058 0.1 0.003 0.22 0.11 0.1688 0.0843 0.0927 0.0005 0.2619 0.2121 0.2234 0.1469 0.17 0.09 0.2 0.054 0.3 rs11697395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1685 0.0829 0.1005 0.2870 0.0005 0.2667 0.2040 0.1866 0.1357 0.1773 0.0869 0.1002 0.3013 0.0018 0.2698 0.2268 0.2112 het 947.44 88 20 1538266 . G A 947.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.421;DP=88;Dels=0.00;FS=4.185;HRun=1;HaplotypeScore=1.3302;MQ=59.31;MQ0=0;MQRankSum=-0.408;QD=10.77;ReadPosRankSum=-2.297;VQSLOD=5.3204;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,38:88:99:977,0,1336 20 1600524 1600524 T C exonic SIRPB1 nonsynonymous SNV SIRPB1:NM_001083910:exon1:c.A67G:p.R23G,SIRPB1:NM_001135844:exon1:c.A67G:p.R23G,SIRPB1:NM_001329157:exon1:c.A67G:p.R23G,SIRPB1:NM_006065:exon1:c.A67G:p.R23G 0.24 0.13 0.42 0.22 0.35 0.19 0.3141 0.1647 0.4401 0.1903 0.4050 0.3420 0.3614 0.2327 0.28 0.16 0.34 0.25 0.3 rs1535882 COSM1179792;COSM1179791 1(pancreas);1(prostate) . . . . . . . . . . . 0.515 0.074 T 0.0 0.026 B 0.0 0.013 B 0.013 0.014 N 1 0.090 P 0 0.065 N 4.65 0.096 T 0.32 0.040 N 0.049 0.030 -0.899 0.481 T 0.000 0.000 T . . . -0.657 0.047 0.091 0.368 0.024 0.006 0.026 N c -1.641 -1.716 1.000 0.747 0.428 0.059 0 0.15 0.141 -0.968 0.039 -0.840 0.030 0.543 0.271 0.000 0.016 . . Immunoglobulin-like domain ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000101307.11|ENSG00000271523.1 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Spleen|Thyroid|Whole_Blood|Whole_Blood 0.3249 0.1602 0.4382 0.3569 0.1842 0.4055 0.3402 0.3380 0.2359 0.3021 0.1694 0.4522 0.3477 0.1797 0.3974 0.3570 0.3637 het 1035.68 91 20 1600524 . T C 1035.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.556;DP=91;Dels=0.00;FS=0.808;HRun=4;HaplotypeScore=2.6912;MQ=59.59;MQ0=0;MQRankSum=-0.308;QD=11.38;ReadPosRankSum=-0.364;VQSLOD=6.5832;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,40:91:99:1066,0,1316 20 1615959 1615959 T C exonic SIRPG synonymous SNV SIRPG:NM_018556:exon4:c.A1035G:p.L345L 0.89 0.99 0.86 0.87 0.82 0.89 0.8582 0.9693 0.8714 0.8474 0.8775 0.8303 0.8513 0.8901 0.87 0.96 0.82 0.92 0.88 rs9305125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8565 0.9711 0.8645 0.8476 0.8491 0.8770 0.8270 0.8511 0.8906 0.8697 0.9630 0.8636 0.8543 0.8327 0.8751 0.8199 0.8507 hom 4324.55 129 20 1615959 . T C 4324.55 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=33.52;VQSLOD=9.0965;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:4324,337,0 20 1616137 1616137 G A exonic SIRPG nonsynonymous SNV SIRPG:NM_018556:exon4:c.C857T:p.S286L 0.6 0.76 0.42 0.64 0.43 0.62 0.4991 0.7273 0.4086 0.6454 0.5233 0.4304 0.5474 0.6078 0.52 0.73 0.41 0.62 0.43 rs6034239 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.049 0.232 N 1.000 0.588 P -2.645 0.000 N 6.47 0.006 T 5.22 0.000 N 0.065 0.051 -1.040 0.173 T 0.000 0.000 T . . . 0.395 0.132 6.572 0.603 0.063 0.006 0.026 N c -1.618 -1.402 0.001 0.078 0.554 0.283 0 1.6 0.226 1.172 0.313 0.001 0.135 0.888 0.309 0.324 0.241 3.570 0.074 Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.4911 0.7352 0.4000 0.5635 0.6465 0.5250 0.4156 0.4907 0.6086 0.5330 0.7218 0.3568 0.6026 0.6275 0.5212 0.4261 0.4969 het 4277.95 242 20 1616137 . G A 4277.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.347;DP=242;DS;Dels=0.00;FS=3.803;HRun=1;HaplotypeScore=1.5226;MQ=59.66;MQ0=0;MQRankSum=0.112;QD=17.68;ReadPosRankSum=0.647;VQSLOD=6.0795;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:112,130:242:99:3648,0,2940 20 1616206 1616206 A G exonic SIRPG nonsynonymous SNV SIRPG:NM_018556:exon4:c.T788C:p.V263A 0.8 0.83 0.78 0.85 0.66 0.86 0.7296 0.8038 0.8051 0.8361 0.6882 0.6661 0.7357 0.8467 0.71 0.8 0.66 0.85 0.73 rs6043409 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.033 0.018 N 1 0.090 P -1.305 0.007 N 6.24 0.006 T 2.16 0.004 N 0.016 0.003 -0.985 0.338 T 0.000 0.000 T . . . -1.331 0.021 0.004 0.789 0.121 0.001 0.005 N c -1.850 -1.837 0.001 0.080 0.616 0.391 0 -0.896 0.100 -0.059 0.116 -0.069 0.120 0.000 0.063 0.006 0.095 0.487 0.005 Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000237914.1 Testis 0.7307 0.8052 0.7907 0.7205 0.8371 0.6898 0.6632 0.7157 0.8466 0.7155 0.8001 0.7613 0.7384 0.8164 0.6944 0.6569 0.7182 hom 5152.54 164 20 1616206 . A G 5152.54 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.563;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5623;MQ=59.74;MQ0=0;MQRankSum=0.287;QD=31.42;ReadPosRankSum=-0.627;VQSLOD=6.3673;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,163:164:99:5117,375,0 20 1616892 1616892 A G exonic SIRPG synonymous SNV SIRPG:NM_001039508:exon3:c.T690C:p.H230H,SIRPG:NM_018556:exon3:c.T690C:p.H230H 0.35 0.11 0.25 0.64 0.25 0.53 0.3057 0.1181 0.3079 0.6454 0.2992 0.2473 0.3557 0.4809 0.2 0.12 0.24 0.37 0.22 rs2277760 COSM3723548 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3053 0.1150 0.2856 0.2814 0.6468 0.2983 0.2404 0.3084 0.4781 0.2350 0.1225 0.2363 0.2914 0.6281 0.2908 0.2401 0.2918 het 1501.59 121 20 1616892 . A G 1501.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.348;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=56.67;MQ0=3;MQRankSum=1.409;QD=12.31;ReadPosRankSum=-0.270;VQSLOD=3.7793;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,62:121:99:1532,0,1536 20 1617069 1617069 A G exonic SIRPG synonymous SNV SIRPG:NM_001039508:exon3:c.T513C:p.H171H,SIRPG:NM_018556:exon3:c.T513C:p.H171H 0.23 0.16 0.37 0.21 0.24 0.23 0.2425 0.1675 0.3951 0.1920 0.1774 0.2408 0.1960 0.2448 0.22 0.16 0.25 0.26 0.31 rs2277761 COSM4001828 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2495 0.1619 0.3916 0.1869 0.1899 0.1762 0.2506 0.2309 0.2438 0.2101 0.1642 0.4105 0.1510 0.1824 0.1821 0.2354 0.2244 het 2168.90 161 20 1617069 . A G 2168.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.650;DP=161;Dels=0.00;FS=3.740;HRun=0;HaplotypeScore=0.9734;MQ=58.98;MQ0=0;MQRankSum=0.294;QD=13.47;ReadPosRankSum=-0.586;VQSLOD=5.6088;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,89:161:99:2199,0,2063 20 1629906 1629906 C T exonic SIRPG synonymous SNV SIRPG:NM_001039508:exon2:c.G222A:p.R74R,SIRPG:NM_018556:exon2:c.G222A:p.R74R,SIRPG:NM_080816:exon2:c.G222A:p.R74R 0.35 0.31 0.51 0.27 0.44 0.3 0.4080 0.3387 0.4856 0.2479 0.4009 0.4497 0.3502 0.3189 0.41 0.33 0.46 0.4 0.51 rs6079967 COSM149126 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4134 0.3326 0.4923 0.4146 0.2468 0.3992 0.4557 0.4054 0.3183 0.3969 0.3371 0.5322 0.3609 0.2586 0.4008 0.4389 0.3943 het 1821.01 141 20 1629906 . C T 1821.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.559;DP=141;Dels=0.00;FS=2.183;HRun=0;HaplotypeScore=0.8941;MQ=58.82;MQ0=0;MQRankSum=0.555;QD=12.91;ReadPosRankSum=-0.707;VQSLOD=5.7167;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:70,71:141:99:1851,0,1908 20 1896052 1896054 CGA - exonic SIRPA nonframeshift deletion SIRPA:NM_001040023:exon2:c.387_389del:p.D131del,SIRPA:NM_001040022:exon3:c.387_389del:p.D131del,SIRPA:NM_001330728:exon3:c.387_389del:p.D131del,SIRPA:NM_080792:exon3:c.387_389del:p.D131del 0.39 0.26 0.41 0.59 0.29 0.44 0.3407 0.2676 0.4303 0.5713 0.3347 0.3144 0.3333 0.3124 0.31 0.27 0.33 0.45 0.13 rs139878822 COSM128735;COSM4591993 1(pancreas);1(lung);15(upper_aerodigestive_tract);6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2541 0.1604 0.3586 0.1268 0.6909 0.2346 0.1874 0.2314 0.2595 0.3682 0.2989 0.4938 0.3794 0.6662 0.3764 0.3667 0.3860 het 349.57 86 20 1896051 . CCGA C 349.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.533;DP=86;FS=16.311;HRun=0;HaplotypeScore=435.2950;MQ=55.30;MQ0=0;MQRankSum=-5.545;QD=3.80;ReadPosRankSum=0.437;set=variant2 GT:AD:DP:GQ:PL 0/1:76,16:86:99:389,0,5032 20 1961134 1961134 A G exonic PDYN synonymous SNV PDYN:NM_001190892:exon3:c.T600C:p.H200H,PDYN:NM_001190899:exon3:c.T600C:p.H200H,PDYN:NM_001190898:exon4:c.T600C:p.H200H,PDYN:NM_001190900:exon4:c.T600C:p.H200H,PDYN:NM_024411:exon4:c.T600C:p.H200H 0.13 0.32 0.1 . 0.11 0.047 0.1109 0.2867 0.0704 0.0001 0.0767 0.1197 0.1200 0.0640 0.17 0.27 0.12 0.098 0.14 rs6045819 COSM5619188 1(breast) Benign Spinocerebellar_Ataxia\x2c_Dominant RCV000398028.1 MedGen CN239243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1057 0.2862 0.0781 0.1174 0.0001 0.0797 0.1200 0.1182 0.0662 0.1471 0.2727 0.0990 0.1490 0.0006 0.0882 0.1091 0.1079 het 2655.79 199 20 1961134 . A G 2655.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.876;DP=199;Dels=0.00;FS=2.440;HRun=0;HaplotypeScore=7.2358;MQ=59.00;MQ0=0;MQRankSum=0.985;QD=13.35;ReadPosRankSum=0.502;VQSLOD=4.9451;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,105:199:99:2686,0,2427 20 2290333 2290333 C A exonic TGM3 nonsynonymous SNV TGM3:NM_003245:exon2:c.C38A:p.T13K 0.74 0.41 0.83 0.92 0.84 0.84 0.8102 0.4609 0.9004 0.9315 0.8604 0.8213 0.7985 0.8394 0.71 0.48 0.82 0.66 0.79 rs214803 COSM1533216 6(prostate);1(lung) . . . . . . . . . . . 0.693 0.043 T 0.727 0.405 P 0.052 0.241 B 0.222 0.035 N 1 0.090 P -0.69 0.019 N -1.82 0.841 D -0.21 0.103 N 0.051 0.032 -0.904 0.476 T 0.000 0.000 T . . . 0.366 0.129 6.309 0.444 0.034 0.027 0.072 N c -1.148 -1.200 0.017 0.129 0.497 0.185 0 -1.08 0.094 -2.429 0.011 -0.787 0.033 0.000 0.063 0.018 0.130 2.908 0.053 Immunoglobulin E-set|Immunoglobulin-like fold|Transglutaminase\x2c N-terminal . . 0.8199 0.4602 0.8941 0.7800 0.9323 0.8626 0.8205 0.8055 0.8371 0.7397 0.4774 0.8747 0.7748 0.9370 0.8608 0.8288 0.8187 hom 8514.26 250 20 2290333 . C A 8514.26 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4915;MQ=59.37;MQ0=0;QD=34.06;VQSLOD=7.9174;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8514,656,0 20 2321105 2321105 G C exonic TGM3 nonsynonymous SNV TGM3:NM_003245:exon13:c.G1960C:p.G654R 0.81 0.93 0.73 0.86 0.66 0.81 0.7121 0.8805 0.7740 0.8637 0.7204 0.6353 0.7093 0.7904 0.7 0.87 0.61 0.8 0.66 rs214830 COSM3758487 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.038 0.244 N 1.000 0.090 P -2.375 0.001 N -0.27 0.674 T 4.16 0.000 N 0.038 0.018 -0.960 0.391 T 0.000 0.000 T . . . 1.160 0.206 11.54 0.757 0.108 0.093 0.149 N c -1.003 -0.747 0.001 0.072 0.534 0.214 0 3.4 0.379 0.635 0.241 -0.524 0.049 0.770 0.291 0.971 0.463 7.160 0.247 Immunoglobulin-like fold|Transglutaminase\x2c C-terminal . . 0.7080 0.8877 0.7608 0.5176 0.8591 0.7219 0.6363 0.6774 0.7900 0.7317 0.8799 0.7530 0.5067 0.8614 0.7113 0.6394 0.7290 hom 6746.89 233 20 2321105 . G C 6746.89 Mask AC=2;AF=1.00;AN=2;DP=233;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0894;MQ=59.60;MQ0=0;QD=28.96;VQSLOD=5.6640;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,231:233:99:6708,539,0 20 2375262 2375262 A G exonic TGM6 nonsynonymous SNV TGM6:NM_001254734:exon2:c.A172G:p.M58V,TGM6:NM_198994:exon2:c.A172G:p.M58V 0.88 0.96 0.92 0.68 0.93 0.89 0.9071 0.9545 0.9407 0.6833 0.9115 0.9283 0.9019 0.8812 0.94 0.96 0.93 0.89 0.81 rs2076405 COSM5352123 1(kidney) Likely benign|Benign not_specified|Spinocerebellar_Ataxia\x2c_Dominant RCV000118626.2|RCV000271520.1 MedGen|MedGen CN169374|CN239243 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.019 0.274 N 1 0.090 P -2.535 0.001 N -1.71 0.832 D 1.55 0.007 N 0.051 0.032 -0.954 0.403 T 0.000 0.000 T . . . -1.134 0.027 0.009 0.260 0.012 0.002 0.010 N c -1.302 -1.107 0.001 0.078 0.487 0.133 0 3.66 0.409 1.150 0.310 -0.403 0.062 0.007 0.175 0.876 0.367 7.763 0.280 Immunoglobulin E-set|Immunoglobulin-like fold|Transglutaminase\x2c N-terminal . . 0.9062 0.9569 0.9437 0.9116 0.6710 0.9104 0.9308 0.9169 0.8764 0.9236 0.9567 0.9391 0.9172 0.6722 0.9175 0.9324 0.9194 hom 629.48 20 20 2375262 . A G 629.48 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.47;VQSLOD=13.9778;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:54.16:662,54,0 20 2539387 2539387 G A exonic TMC2 nonsynonymous SNV TMC2:NM_080751:exon3:c.G368A:p.R123K 0.65 0.74 0.63 0.55 0.62 0.7 0.6481 0.7294 0.6922 0.5405 0.6952 0.6317 0.6164 0.6792 0.66 0.72 0.62 0.63 0.65 rs6050063 COSM4134341 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.481 N 1 0.090 P -1.905 0.002 N 0.81 0.485 T 0.72 0.021 N 0.02 0.004 -1.025 0.221 T 0.000 0.000 T . . . -0.441 0.059 0.308 0.842 0.146 0.054 0.112 N c -1.666 -1.552 0.997 0.353 0.598 0.340 0 . . 2.151 0.416 -0.363 0.068 1.000 0.715 0.126 0.198 . . . . . 0.6358 0.7255 0.6667 0.5216 0.5333 0.6786 0.6272 0.6181 0.6511 0.6681 0.7327 0.6256 0.5099 0.5601 0.6964 0.6411 0.6684 het 497.55 25 20 2539387 . G A 497.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.635;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;MQRankSum=-0.393;QD=19.90;ReadPosRankSum=-0.514;VQSLOD=7.2167;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,18:25:99:528,0,166 20 2591232 2591232 C T exonic TMC2 synonymous SNV TMC2:NM_080751:exon12:c.C1581T:p.D527D 0.31 0.4 0.28 0.28 0.24 0.34 0.2776 0.3906 0.3181 0.3177 0.2574 0.2439 0.2674 0.3005 0.29 0.38 0.24 0.33 0.19 rs6050576 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2616 0.3818 0.2909 0.2754 0.2933 0.2398 0.2287 0.2615 0.2885 0.2767 0.3815 0.2644 0.2933 0.2812 0.2517 0.2232 0.25 het 806.34 44 20 2591232 . C T 806.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.580;DP=44;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.9979;MQ=59.48;MQ0=0;MQRankSum=1.663;QD=18.33;ReadPosRankSum=-0.362;VQSLOD=5.6851;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,27:44:99:836,0,415 20 2593863 2593863 T C exonic TMC2 synonymous SNV TMC2:NM_080751:exon14:c.T1767C:p.S589S 0.27 0.21 0.28 0.29 0.24 0.33 0.2597 0.2195 0.3432 0.3218 0.2488 0.2357 0.2660 0.2954 0.23 0.22 0.24 0.24 0.21 rs6515646 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2614 0.2194 0.3306 0.2616 0.3147 0.2445 0.2326 0.2688 0.2916 0.2347 0.2174 0.2947 0.2781 0.3001 0.2572 0.2281 0.2373 het 887.32 67 20 2593863 . T C 887.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.364;DP=67;Dels=0.00;FS=0.937;HRun=1;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;MQRankSum=0.245;QD=13.24;ReadPosRankSum=-0.082;VQSLOD=6.7208;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,36:67:99:917,0,935 20 2618140 2618140 T C exonic TMC2 synonymous SNV TMC2:NM_080751:exon19:c.T2406C:p.S802S 0.78 0.68 0.8 0.86 0.75 0.84 0.7765 0.6984 0.8802 0.8625 0.7716 0.7535 0.7544 0.8038 0.73 0.7 0.75 0.7 0.77 rs6083915 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7811 0.6909 0.8730 0.7508 0.8649 0.7734 0.7517 0.7858 0.7994 0.7558 0.7017 0.8449 0.75 0.8810 0.7862 0.7613 0.7633 hom 2253.45 74 20 2618140 . T C 2253.45 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6232;MQ=57.12;MQ0=0;QD=30.45;VQSLOD=5.7601;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:74:99:2286,181,0 20 2633936 2633936 T C exonic NOP56 synonymous SNV NOP56:NM_006392:exon3:c.T105C:p.S35S 0.86 0.92 0.89 0.85 0.8 0.83 0.8285 0.9121 0.9287 0.8421 0.7837 0.8041 0.8073 0.8159 0.83 0.91 0.8 0.87 0.76 rs2073194 COSM4134379;COSM4134378 1(thyroid) Likely benign not_specified RCV000117823.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8290 0.9113 0.9246 0.8141 0.8425 0.7875 0.8004 0.8412 0.8126 0.8402 0.8992 0.9234 0.8344 0.8636 0.8038 0.8076 0.8350 hom 7838.67 242 20 2633936 . T C 7838.67 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0186;MQ=59.01;MQ0=0;QD=32.39;VQSLOD=8.4350;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,241:242:99:7837,638,0 20 2637071 2637071 T C exonic NOP56 synonymous SNV NOP56:NM_006392:exon9:c.T1035C:p.T345T 0.67 0.75 0.68 0.63 0.61 0.68 0.6336 0.7409 0.7434 0.6143 0.5369 0.6088 0.5727 0.6418 0.65 0.73 0.61 0.64 0.58 rs8958 COSM4134380 1(thyroid) Likely benign not_specified RCV000117822.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6356 0.7421 0.7468 0.5647 0.6114 0.5440 0.6146 0.6206 0.6425 0.6509 0.7235 0.7351 0.5563 0.6194 0.5441 0.6347 0.6426 het 1213.16 120 20 2637071 . T C 1213.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.655;DP=120;Dels=0.00;FS=3.441;HRun=2;HaplotypeScore=1.6229;MQ=59.09;MQ0=1;MQRankSum=-0.705;QD=10.11;ReadPosRankSum=-1.201;VQSLOD=5.5808;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,49:120:99:1243,0,1848 20 2796007 2796007 G A exonic C20orf141 synonymous SNV C20orf141:NM_080739:exon1:c.G177A:p.L59L,C20orf141:NM_001256538:exon2:c.G177A:p.L59L 0.15 0.25 0.12 0.13 0.073 0.11 0.1162 0.2243 0.1521 0.1412 0.0712 0.0937 0.1100 0.1176 0.14 0.22 0.1 0.15 0.049 rs12625619 COSM4134389;COSM4134390 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1121 0.2263 0.1478 0.1073 0.1382 0.0688 0.0913 0.1113 0.1067 0.1303 0.2172 0.1325 0.1225 0.1476 0.0677 0.0949 0.0939 het 3193.64 245 20 2796007 . G A 3193.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.955;DP=245;DS;Dels=0.00;FS=4.398;HRun=1;HaplotypeScore=6.8239;MQ=59.37;MQ0=0;MQRankSum=0.380;QD=13.04;ReadPosRankSum=0.288;VQSLOD=4.9515;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,120:245:99:3224,0,3592 20 3090848 3090848 T G exonic UBOX5 nonsynonymous SNV UBOX5:NM_001267584:exon5:c.A1525C:p.T509P 0.22 0.15 0.27 0.12 0.31 0.26 0.3172 0.1676 0.2968 0.1485 0.4307 0.3595 0.3433 0.2958 0.29 0.17 0.36 0.27 0.42 rs708973 COSM5428648 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3194 0.1641 0.2929 0.3080 0.1521 0.4335 0.3604 0.3181 0.2915 0.2995 0.1742 0.3067 0.3278 0.1469 0.4244 0.3572 0.3276 het 1047.59 122 20 3090848 . T G 1047.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.433;DP=122;Dels=0.00;FS=6.067;HRun=3;HaplotypeScore=2.8288;MQ=59.03;MQ0=0;MQRankSum=0.991;QD=8.59;ReadPosRankSum=1.062;VQSLOD=4.4421;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,45:122:99:1078,0,1957 20 3102998 3102998 G A exonic UBOX5 nonsynonymous SNV UBOX5:NM_001267584:exon3:c.C287T:p.T96M,UBOX5:NM_014948:exon3:c.C287T:p.T96M,UBOX5:NM_199415:exon3:c.C287T:p.T96M 0.016 0.051 0.0014 . 0.008 0.0051 0.0073 0.0477 0.0028 0 0.0006 0.0043 0.0044 0.0042 0.02 0.048 0.0055 0.033 0.0082 rs999409 . . . . . . . . . . . . . 0.079 0.337 T 0.122 0.252 B 0.014 0.162 B 0.957 0.077 U 1 0.090 N 1.78 0.463 L 1.49 0.315 T -1.28 0.322 N 0.037 0.017 -1.026 0.216 T 0.007 0.023 T . . . -0.355 0.065 0.495 0.830 0.140 0.136 0.177 N c -0.798 -0.833 0.998 0.359 0.706 0.609 0 0.682 0.171 0.470 0.216 0.138 0.222 0.000 0.063 0.000 0.016 3.565 0.074 . . . 0.0066 0.0494 0.0031 0.0048 0.0001 0.0008 0.0048 0.0051 0.0045 0.0149 0.0449 0.0024 0.0132 0 0.0009 0.0037 0.0041 het 1083.69 101 20 3102998 . G A 1083.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.597;DP=101;Dels=0.00;FS=3.705;HRun=0;HaplotypeScore=6.7224;MQ=59.63;MQ0=0;MQRankSum=-0.550;QD=10.73;ReadPosRankSum=0.728;VQSLOD=4.4533;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1114,0,1403 20 3128854 3128854 A G exonic FASTKD5 nonsynonymous SNV FASTKD5:NM_021826:exon2:c.T863C:p.I288T 0.0006 . . . 0.003 . 0.0011 0.0004 0.0003 0 0.0006 0.0018 0.0011 0 0.002 0.0009 0.0026 . . rs2422857 COSM6049753 1(large_intestine) . . . . . . . . . . . 0.002 0.721 D 0.997 0.689 D 0.879 0.606 P 0.000 0.559 D 1 0.810 D 2.615 0.767 M 2.14 0.194 T -2.91 0.609 D 0.653 0.667 -1.093 0.051 T 0.089 0.343 T 0.036 0.570 D 5.122 0.691 25.4 0.998 0.886 0.983 0.808 D c 0.639 0.677 1.000 0.747 0.707 0.730 0 5.67 0.876 8.666 0.908 1.140 0.893 1.000 0.715 1.000 0.888 15.908 0.791 . . . 0.0011 0.0004 0.0004 0.0004 0 0.0004 0.0020 0.0007 0 0.0007 0.0002 0 0 0 0.0003 0.0013 0.0010 het 1452.58 144 20 3128854 . A G 1452.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.582;DP=144;Dels=0.00;FS=1.325;HRun=0;HaplotypeScore=3.9635;MQ=58.52;MQ0=0;MQRankSum=-1.210;QD=10.09;ReadPosRankSum=-0.371;VQSLOD=4.3521;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,60:144:99:1483,0,1988 20 3147468 3147468 G A exonic LZTS3 synonymous SNV LZTS3:NM_001282533:exon3:c.C342T:p.N114N 0.14 0.062 0.2 0.021 0.23 0.24 0.2053 0.0861 0.1792 0.0270 0.2727 0.2398 0.1847 0.2276 0.19 0.096 0.24 0.13 0.33 rs17853865 COSM443644 2(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2064 0.0830 0.1818 0.2880 0.0266 0.2762 0.2324 0.2082 0.2248 0.1770 0.0904 0.2022 0.2450 0.0247 0.2662 0.2182 0.2096 het 1019.62 77 20 3147468 . G A 1019.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.301;DP=77;Dels=0.00;FS=6.392;HRun=0;HaplotypeScore=0.7887;MQ=58.97;MQ0=0;MQRankSum=-0.127;QD=13.24;ReadPosRankSum=0.015;VQSLOD=5.1414;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,39:77:99:1050,0,1032 20 3147762 3147762 A G exonic LZTS3 synonymous SNV LZTS3:NM_001282533:exon3:c.T48C:p.D16D 0.94 0.88 0.97 0.94 0.98 0.97 0.9723 0.8962 0.9790 0.9543 0.9934 0.9825 0.9763 0.9682 0.95 0.89 0.98 0.91 0.68 rs6051612 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9700 0.8892 0.9778 0.9946 0.9473 0.9912 0.9809 0.9787 0.9710 0.9539 0.8856 0.9761 0.9934 0.9426 0.9931 0.9821 0.9785 hom 454.76 14 20 3147762 . A G 454.76 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.48;VQSLOD=13.4945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:488,39,0 20 3193978 3193978 G A exonic ITPA synonymous SNV ITPA:NM_001324240:exon3:c.G138A:p.Q46Q,ITPA:NM_033453:exon3:c.G138A:p.Q46Q,ITPA:NM_181493:exon3:c.G87A:p.Q29Q 0.47 0.47 0.31 0.61 0.3 0.61 0.3520 0.4622 0.2772 0.5959 0.1937 0.2833 0.3271 0.5497 0.34 0.46 0.28 0.52 0.29 rs8362 COSM3758521 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3447 0.4662 0.2763 0.2890 0.5918 0.1995 0.2894 0.3177 0.5493 0.3449 0.4528 0.2950 0.3411 0.5827 0.1970 0.2981 0.2828 hom 4450.64 137 20 3193978 . G A 4450.64 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3322;MQ=59.70;MQ0=0;QD=32.49;VQSLOD=9.2346;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4450,340,0 20 3204084 3204084 G A exonic ITPA nonsynonymous SNV ITPA:NM_001324236:exon7:c.G224A:p.S75N,ITPA:NM_001324238:exon7:c.G224A:p.S75N,ITPA:NM_001351739:exon7:c.G224A:p.S75N,ITPA:NM_001324237:exon8:c.G224A:p.S75N 0.34 0.083 0.28 0.51 0.31 0.59 0.3257 0.1149 0.2773 0.5030 0.2239 0.2982 0.3262 0.5399 0.23 0.11 0.29 0.28 0.26 rs9101 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3125 0.1015 0.2589 0.3058 0.4960 0.2123 0.2910 0.2939 0.5287 0.2473 0.1036 0.2691 0.3533 0.4938 0.2136 0.3077 0.2695 hom 2162.99 71 20 3204084 . G A 2162.99 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9973;MQ=59.74;MQ0=0;QD=30.46;VQSLOD=8.6369;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2196,175,0 20 3285140 3285140 T C exonic C20orf194 nonsynonymous SNV C20orf194:NM_001009984:exon21:c.A1729G:p.R577G 0.93 0.95 0.93 1. 0.86 0.93 0.8795 0.9496 0.9435 0.9998 0.8216 0.8414 0.8733 0.9081 0.88 0.95 0.85 0.92 0.87 rs2422864 COSM5001458;COSM5001457 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.39 0.001 N 2.81 0.110 T 3.56 0.001 N 0.128 0.146 -0.957 0.398 T 0.000 0.000 T . . . 1.606 0.255 13.88 0.529 0.048 0.028 0.075 N c -0.824 -0.468 0.991 0.325 0.707 0.730 0 5.66 0.872 3.334 0.516 0.040 0.155 0.998 0.411 0.984 0.507 12.095 0.529 . ENSG00000088854.11|ENSG00000088854.11|ENSG00000088854.11 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Muscularis 0.8814 0.9480 0.9403 0.8367 0.9998 0.8213 0.8456 0.8759 0.9063 0.8834 0.9447 0.9368 0.8079 0.9988 0.8181 0.8507 0.8571 hom 2647.15 86 20 3285140 . T C 2647.15 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.30;MQ0=0;QD=30.78;VQSLOD=9.3354;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2680,202,0 20 3564672 3564672 C T exonic ATRN synonymous SNV ATRN:NM_001207047:exon17:c.C2544T:p.Y848Y,ATRN:NM_001323332:exon17:c.C2892T:p.Y964Y,ATRN:NM_139321:exon17:c.C2892T:p.Y964Y,ATRN:NM_139322:exon17:c.C2892T:p.Y964Y 0.82 0.71 0.81 1. 0.72 0.92 0.7870 0.7163 0.8729 0.9988 0.7762 0.7305 0.7709 0.8943 0.73 0.72 0.74 0.79 0.78 rs235540 COSM5619047 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7904 0.7089 0.8584 0.7371 0.9987 0.7800 0.7283 0.7620 0.8944 0.7562 0.7145 0.8517 0.7219 0.9994 0.7712 0.7463 0.7515 hom 8231.61 247 20 3564672 . C T 8231.61 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5179;MQ=59.07;MQ0=0;QD=33.33;VQSLOD=8.3054;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:247:99:8231,671,0 20 3624830 3624830 G A exonic ATRN synonymous SNV ATRN:NM_139321:exon28:c.G4080A:p.P1360P 0.38 0.59 0.37 0.2 0.39 0.3 0.3771 0.5483 0.3790 0.1533 0.3151 0.4021 0.3844 0.3088 0.45 0.54 0.41 0.35 0.51 rs2246808 COSM4134511 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3714 0.5499 0.3738 0.4227 0.1548 0.3125 0.4032 0.3900 0.3091 0.4153 0.5421 0.3878 0.4404 0.1512 0.3228 0.3953 0.3768 hom 3233.06 107 20 3624830 . G A 3233.06 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1322;MQ=59.00;MQ0=0;QD=30.22;VQSLOD=6.3684;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3266,256,0 20 3640823 3640823 C T exonic GFRA4 synonymous SNV GFRA4:NM_145762:exon4:c.G801A:p.P267P,GFRA4:NM_022139:exon5:c.G711A:p.P237P 0.38 0.05 0.53 0.41 0.53 0.53 0.5301 0.1779 0.5780 0.5032 0.4930 0.5700 0.5474 0.5332 0.39 0.14 0.51 0.34 0.37 rs2853208 COSM443772 1(kidney);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4672 0.1183 0.5064 0.4825 0.4355 0.3757 0.5136 0.4822 0.5014 0.3736 0.1256 0.5084 0.4834 0.4238 0.3877 0.4966 0.4255 hom 491.95 17 20 3640823 . C T 491.95 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.94;VQSLOD=12.5941;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.13:525,39,0 20 3677357 3677357 T C exonic SIGLEC1 synonymous SNV SIGLEC1:NM_023068:exon10:c.A2559G:p.K853K 0.99 1. 0.99 1. 0.99 0.99 0.9891 0.9978 0.9961 1 0.9790 0.9858 0.9879 0.9902 0.99 1. 0.99 0.98 0.99 rs501538 COSM4134519;COSM4134518 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9890 0.9976 0.9943 0.9991 1 0.9822 0.9849 0.9876 0.9896 0.9881 0.9973 0.9940 1 1 0.9817 0.9825 0.9847 hom 3917.80 120 20 3677357 . T C 3917.80 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7256;MQ=59.50;MQ0=0;QD=32.65;VQSLOD=9.1910;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3917,301,0 20 3677736 3677736 T G exonic SIGLEC1 synonymous SNV SIGLEC1:NM_023068:exon9:c.A2376C:p.V792V 0.72 0.83 0.67 0.77 0.58 0.69 0.6631 0.7876 0.7367 0.7618 0.6771 0.6115 0.6333 0.6846 0.66 0.77 0.61 0.35 0.62 rs673114 COSM4134521;COSM4134520 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6638 0.7867 0.7348 0.5950 0.7655 0.6804 0.6091 0.6293 0.6808 0.6789 0.7752 0.7148 0.6115 0.7794 0.6692 0.6146 0.6583 het 812.73 48 20 3677736 . T G 812.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.587;DP=48;Dels=0.00;FS=1.353;HRun=1;HaplotypeScore=0.9867;MQ=58.24;MQ0=0;MQRankSum=0.692;QD=16.93;ReadPosRankSum=-0.266;VQSLOD=5.1420;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,30:48:99:843,0,442 20 4163302 4163302 A G exonic SMOX synonymous SNV SMOX:NM_001270691:exon5:c.A1176G:p.A392A,SMOX:NM_175839:exon5:c.A1176G:p.A392A,SMOX:NM_175840:exon6:c.A1017G:p.A339A,SMOX:NM_175842:exon6:c.A1017G:p.A339A 0.51 0.44 0.6 0.43 0.67 0.44 0.6058 0.4845 0.5859 0.4421 0.7198 0.6706 0.5717 0.4765 0.61 0.49 0.67 0.4 0.62 rs1051904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6065 0.4814 0.5912 0.4999 0.4437 0.7150 0.6760 0.6019 0.4807 0.6080 0.4777 0.6247 0.4933 0.4349 0.7111 0.6760 0.6650 hom 4204.85 136 20 4163302 . A G 4204.85 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.73;MQ0=0;QD=30.92;VQSLOD=9.0207;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4204,349,0 20 4164283 4164283 A G exonic SMOX synonymous SNV SMOX:NM_001270691:exon6:c.A1512G:p.T504T,SMOX:NM_175839:exon6:c.A1512G:p.T504T,SMOX:NM_175840:exon7:c.A1353G:p.T451T,SMOX:NM_175842:exon7:c.A1353G:p.T451T 0.69 0.8 0.72 0.72 0.69 0.52 0.7011 0.7940 0.7498 0.7225 0.7470 0.6957 0.6554 0.5656 0.73 0.79 0.69 0.63 0.63 rs1741327 COSM3723658;COSM3723657 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6974 0.7923 0.7480 0.5874 0.7245 0.7467 0.6959 0.6861 0.5604 0.7283 0.7829 0.75 0.5728 0.7116 0.7371 0.6978 0.7342 hom 2709.04 77 20 4164283 . A G 2709.04 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=35.18;VQSLOD=10.1646;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2742,217,0 20 4680251 4680251 A G exonic PRNP nonsynonymous SNV PRNP:NM_000311:exon2:c.A385G:p.M129V,PRNP:NM_001080121:exon2:c.A385G:p.M129V,PRNP:NM_001080122:exon2:c.A385G:p.M129V,PRNP:NM_001080123:exon2:c.A385G:p.M129V,PRNP:NM_183079:exon2:c.A385G:p.M129V 0.27 0.35 0.41 0.025 0.33 0.24 0.3078 0.3435 0.4148 0.0241 0.3062 0.3346 0.2777 0.2528 0.34 0.34 0.34 0.24 0.28 rs1799990 COSM42856 1(stomach);10(soft_tissue);1(pancreas);2(skin);6(large_intestine);1(central_nervous_system) other|other|other|Pathogenic|Pathogenic|Benign|Likely benign Prion_disease\x2c_susceptibility_to|Alzheimer_disease\x2c_early-onset\x2c_susceptibility_to|Aphasia\x2c_primary_progressive\x2c_susceptibility_to|Jakob-Creutzfeldt_disease|Fatal_familial_insomnia|Genetic_prion_diseases|not_specified RCV000014331.7|RCV000014332.7|RCV000014333.7|RCV000014336.24|RCV000014337.24|RCV000020244.2|RCV000118064.2 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen C0022336:123400:ORPHA204:792004|C0206042:600072:ORPHA466:83157008|C0162534|CN169374 Creutzfeldt-Jakob disease . . 19081515 rs1799990 2E-21 0.024 0.496 D 0.009 0.251 B 0.012 0.225 B 0.002 0.385 N 0.184 0.347 P 1.01 0.254 L -2.95 0.919 D -0.66 0.202 N 0.68 0.688 -1.093 0.050 T 0.000 0.000 T . . . 0.871 0.177 9.896 0.971 0.320 0.545 0.294 D c -0.252 -0.134 0.998 0.366 0.706 0.609 0 2.93 0.329 0.542 0.228 1.088 0.866 0.998 0.411 1.000 0.888 5.837 0.177 Prion/Doppel protein\x2c beta-ribbon domain ENSG00000171867.12|ENSG00000171867.12|ENSG00000171867.12|ENSG00000171867.12 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Thyroid 0.3097 0.3391 0.4128 0.2736 0.0244 0.2992 0.3388 0.3201 0.2542 0.3135 0.3348 0.3544 0.2550 0.0222 0.2948 0.3368 0.3014 hom 2159.59 70 20 4680251 . A G 2159.59 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.85;MQ0=0;QD=30.85;VQSLOD=8.5679;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2193,186,0 20 4705718 4705718 C T exonic PRND nonsynonymous SNV PRND:NM_012409:exon2:c.C521T:p.T174M 0.5 0.67 0.36 0.25 0.49 0.61 0.4799 0.6455 0.3256 0.2511 0.4397 0.4906 0.4954 0.5784 0.54 0.64 0.49 0.48 0.29 rs2245220 COSM1412276 1(pancreas) . . . . . . . . . . . 0.195 0.207 T 0.0 0.026 B 0.0 0.013 B 0.605 0.109 N 1 0.090 P -0.55 0.024 N -2.41 0.885 D 1.0 0.014 N 0.023 0.006 -0.937 0.431 T 0.000 0.000 T . . . 0.974 0.187 10.51 0.800 0.126 0.001 0.004 N c -1.235 -1.186 0.457 0.206 0.497 0.185 0 2.23 0.271 0.577 0.233 0.040 0.155 0.000 0.063 0.000 0.016 3.770 0.081 Prion/Doppel protein\x2c beta-ribbon domain . . 0.4655 0.6417 0.3348 0.5436 0.2437 0.4268 0.4856 0.4954 0.5737 0.5091 0.6379 0.3837 0.4768 0.2313 0.4251 0.4925 0.4928 het 703.65 54 20 4705718 . C T 703.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.432;DP=54;Dels=0.00;FS=1.209;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.095;QD=13.03;ReadPosRankSum=-1.169;VQSLOD=6.3636;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,26:54:99:734,0,701 20 4843470 4843470 C A exonic SLC23A2 synonymous SNV SLC23A2:NM_005116:exon14:c.G1440T:p.A480A,SLC23A2:NM_203327:exon14:c.G1440T:p.A480A 0.063 0.12 0.053 . 0.067 0.048 0.0571 0.1209 0.0386 0.0002 0.0354 0.0617 0.0708 0.0492 0.077 0.11 0.059 0.12 0.09 rs34073337 COSM3758622 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0561 0.1212 0.0429 0.1473 0.0001 0.0370 0.0563 0.0702 0.0506 0.0690 0.1182 0.0561 0.1656 0 0.0343 0.0561 0.0491 het 937.85 67 20 4843470 . C A 937.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.341;DP=67;Dels=0.00;FS=4.932;HRun=1;HaplotypeScore=1.9873;MQ=58.43;MQ0=0;MQRankSum=1.054;QD=14.00;ReadPosRankSum=0.077;VQSLOD=5.0808;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,35:67:99:968,0,803 20 4880308 4880308 G A exonic SLC23A2 synonymous SNV SLC23A2:NM_005116:exon6:c.C375T:p.A125A,SLC23A2:NM_203327:exon6:c.C375T:p.A125A 0.45 0.36 0.42 0.54 0.46 0.48 0.4713 0.3830 0.4311 0.5416 0.5703 0.4720 0.4978 0.4745 0.43 0.39 0.46 0.52 0.43 rs1776964 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4727 0.3866 0.4362 0.4729 0.5336 0.5673 0.4666 0.4772 0.4740 0.4745 0.3976 0.4414 0.4437 0.5329 0.5556 0.4930 0.5286 het 4239.31 241 20 4880308 . G A 4239.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.652;DP=241;DS;Dels=0.00;FS=1.161;HRun=0;HaplotypeScore=3.4104;MQ=53.90;MQ0=0;MQRankSum=1.060;QD=17.59;ReadPosRankSum=0.107;VQSLOD=2.8696;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:112,128:241:99:3594,0,2982 20 5283256 5283256 C G exonic PROKR2 synonymous SNV PROKR2:NM_144773:exon3:c.G585C:p.T195T 0.72 0.7 0.74 0.66 0.75 0.77 0.7435 0.7097 0.7537 0.6675 0.7644 0.7482 0.7632 0.7690 0.73 0.72 0.74 0.71 0.76 rs3746682 COSM3758645 1(thyroid);1(large_intestine) Benign Hypogonadism_with_anosmia RCV000387299.1 MedGen:Orphanet:SNOMED_CT C0162809:ORPHA478:93559003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7469 0.7070 0.7492 0.7851 0.6796 0.7674 0.7479 0.7516 0.7703 0.7294 0.6973 0.7590 0.7715 0.7105 0.7529 0.7413 0.7428 het 2913.45 249 20 5283256 . C G 2913.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.521;DP=249;DS;Dels=0.00;FS=1.560;HRun=1;HaplotypeScore=6.0359;MQ=59.46;MQ0=0;MQRankSum=1.310;QD=11.70;ReadPosRankSum=1.610;VQSLOD=4.3099;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:2943,0,3554 20 5547384 5547384 C T exonic GPCPD1 nonsynonymous SNV GPCPD1:NM_019593:exon14:c.G1262A:p.R421Q 0.005 0.0023 0.0058 0.001 0.015 0.002 0.0138 0.0050 0.0044 0 0.0071 0.0222 0.0134 0.0020 0.017 0.0066 0.022 . 0.0082 rs73078112 . . . . . . . . . . . . . 0.471 0.084 T 0.0 0.026 B 0.001 0.040 B 0.132 0.186 N 0.997 0.227 N 0.725 0.188 N 2.84 0.107 T -0.23 0.107 N 0.016 0.003 -0.933 0.438 T 0.005 0.018 T . . . 2.498 0.362 19.46 0.884 0.174 0.436 0.269 N c -0.616 -0.444 0.015 0.127 0.651 0.465 0 1.05 0.192 1.076 0.301 -0.021 0.129 1.000 0.715 0.926 0.400 4.643 0.119 Glycerophosphodiester phosphodiesterase domain|PLC-like phosphodiesterase\x2c TIM beta/alpha-barrel domain . . 0.0126 0.0041 0.0049 0.0052 0.0002 0.0057 0.0229 0.0128 0.0019 0.0129 0.0039 0.0108 0.0099 0.0006 0.0054 0.0209 0.0185 het 1230.33 115 20 5547384 . C T 1230.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.244;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5362;MQ=58.67;MQ0=0;MQRankSum=0.909;QD=10.70;ReadPosRankSum=-1.187;VQSLOD=5.3683;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,53:115:99:1260,0,1497 20 5556512 5556512 G A exonic GPCPD1 nonsynonymous SNV GPCPD1:NM_019593:exon9:c.C818T:p.T273I 0.11 0.23 0.065 0.1 0.032 0.045 0.0612 0.2168 0.0510 0.0957 0.0118 0.0444 0.0507 0.0407 0.1 0.21 0.044 0.17 0.041 rs2273373 . . . . . . . . . . . . . 0.082 0.332 T 1.0 0.899 D 0.963 0.692 D 0.000 0.843 D 0.000 0.588 P 2.32 0.666 M 0.71 0.512 T -2.41 0.529 N 0.305 0.365 -1.150 0.010 T 0.000 0.000 T . . . 4.369 0.585 24.1 0.998 0.922 0.996 0.976 D c 0.690 0.730 1.000 0.747 0.672 0.522 0 5.62 0.857 7.984 0.877 1.048 0.713 1.000 0.715 1.000 0.888 19.644 0.957 . . . 0.0576 0.2174 0.0597 0.0578 0.0958 0.0101 0.0439 0.0522 0.0397 0.0888 0.2140 0.0622 0.0662 0.0901 0.0098 0.0387 0.0551 het 2202.46 169 20 5556512 . G A 2202.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.605;DP=169;Dels=0.00;FS=5.627;HRun=1;HaplotypeScore=4.8045;MQ=58.56;MQ0=0;MQRankSum=-0.687;QD=13.03;ReadPosRankSum=-1.747;VQSLOD=4.0208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,86:169:99:2232,0,2183 20 5753579 5753579 C T exonic C20orf196 nonsynonymous SNV C20orf196:NM_001303479:exon2:c.C68T:p.A23V,C20orf196:NM_152504:exon2:c.C68T:p.A23V,C20orf196:NM_001303477:exon3:c.C68T:p.A23V 0.23 0.3 0.25 0.15 0.26 0.2 0.2495 0.2869 0.2733 0.1274 0.2483 0.2604 0.2346 0.2308 0.27 0.27 0.28 0.28 0.25 rs237422 COSM149133;COSM3927770 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(skin);1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.051 T 0.002 0.090 B 0.005 0.104 B 0.840 0.090 N 1 0.090 P 0.72 0.188 N 1.24 0.367 T -0.69 0.219 N 0.036 0.055 -0.950 0.410 T 0.000 0.000 T . . . -1.138 0.027 0.008 0.277 0.014 0.030 0.078 N c -1.647 -1.556 0.004 0.104 0.706 0.609 0 1.73 0.235 0.566 0.231 -1.297 0.014 0.000 0.063 0.000 0.016 10.101 0.415 . . . 0.2481 0.2873 0.2629 0.1807 0.1256 0.2395 0.2693 0.2474 0.2322 0.2604 0.2852 0.2715 0.1788 0.0977 0.2421 0.2690 0.2582 hom 5402.23 178 20 5753579 . C T 5402.23 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5827;MQ=59.65;MQ0=0;QD=30.35;VQSLOD=8.1984;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:5401,436,0 20 5903067 5903067 T A exonic CHGB nonsynonymous SNV CHGB:NM_001819:exon4:c.T277A:p.S93T 0.23 0.075 0.24 0.38 0.26 0.26 0.2748 0.1084 0.3370 0.3894 0.3697 0.2694 0.2649 0.2596 0.22 0.12 0.27 0.27 0.25 rs6085324 COSM149134 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.407 0.102 T 0.021 0.172 B 0.026 0.195 B 0.979 0.081 N 1 0.090 P -0.06 0.049 N 4.47 0.021 T -0.27 0.114 N 0.038 0.140 -0.952 0.406 T 0.000 0.000 T . . . -1.061 0.030 0.012 0.770 0.113 0.178 0.198 N c -0.897 -0.979 0.001 0.075 0.615 0.372 0 0.681 0.171 0.675 0.247 1.061 0.807 0.003 0.159 0.005 0.090 3.760 0.081 . . . 0.2800 0.1024 0.3304 0.1830 0.3876 0.3639 0.2714 0.2618 0.2576 0.2596 0.1067 0.3058 0.1887 0.3775 0.3635 0.3052 0.3408 het 1475.04 110 20 5903067 . T A 1475.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.173;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5592;MQ=58.65;MQ0=0;MQRankSum=-0.069;QD=13.41;ReadPosRankSum=-0.423;VQSLOD=5.4899;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,60:110:99:1505,0,1307 20 5903192 5903192 G A exonic CHGB synonymous SNV CHGB:NM_001819:exon4:c.G402A:p.A134A 0.021 0.0023 0.042 . 0.056 0.015 0.0429 0.0089 0.0357 0.0002 0.0337 0.0618 0.0318 0.0201 0.04 0.012 0.054 0.022 0.033 rs78101688 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0412 0.0081 0.0338 0.0318 0.0003 0.0320 0.0621 0.0520 0.0214 0.0361 0.0101 0.0489 0.0430 0 0.0321 0.0554 0.0348 het 468.39 37 20 5903192 . G A 468.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.598;DP=37;Dels=0.00;FS=7.555;HRun=0;HaplotypeScore=5.0820;MQ=59.38;MQ0=0;MQRankSum=1.426;QD=12.66;ReadPosRankSum=0.412;VQSLOD=4.4312;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,17:37:99:498,0,459 20 5903323 5903323 G A exonic CHGB nonsynonymous SNV CHGB:NM_001819:exon4:c.G533A:p.R178Q 0.42 0.3 0.49 0.53 0.35 0.47 0.4172 0.3332 0.6406 0.5574 0.4200 0.3678 0.3459 0.4418 0.35 0.34 0.36 0.46 0.35 rs910122 . . . . . . . . . . . . . 0.487 0.086 T 0.0 0.026 B 0.001 0.040 B 0.159 0.030 N 1 0.090 P 1.245 0.315 L 4.62 0.019 T -0.03 0.075 N 0.01 0.222 -0.902 0.478 T 0.000 0.000 T . . . -2.190 0.006 0.001 0.580 0.058 0.003 0.018 N c -2.298 -2.429 1.000 0.747 0.615 0.372 0 -11.1 0.001 -1.930 0.016 -2.533 0.003 0.000 0.063 0.000 0.016 1.671 0.026 . ENSG00000125885.9|ENSG00000125885.9 Pituitary|Thyroid 0.4245 0.324 0.6203 0.2835 0.5576 0.4146 0.3702 0.3940 0.4398 0.3942 0.3346 0.5835 0.3245 0.5617 0.4192 0.3932 0.4347 hom 4310.54 147 20 5903323 . G A 4310.54 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.92;MQ0=0;QD=29.32;VQSLOD=8.5342;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,146:147:99:4310,328,0 20 5903517 5903517 A G exonic CHGB nonsynonymous SNV CHGB:NM_001819:exon4:c.A727G:p.T243A 0.87 0.93 0.83 1. 0.76 0.79 0.8029 0.9151 0.8562 0.9990 0.8316 0.7574 0.7612 0.7675 0.8 0.91 0.74 0.94 0.66 rs236151 . . . . . . . . . . . . . 0.564 0.063 T 0.0 0.026 B 0.002 0.063 B 0.056 0.021 N 1 0.090 P 1.095 0.275 L 4.62 0.019 T -1.11 0.287 N 0.015 0.112 -1.025 0.221 T 0.000 0.000 T . . . -1.129 0.027 0.009 0.493 0.041 0.005 0.025 N c -1.509 -1.540 0.005 0.109 0.615 0.372 0 -3.85 0.039 -0.337 0.078 -0.145 0.109 0.000 0.063 0.629 0.294 3.469 0.071 . . . 0.8016 0.9159 0.8484 0.7322 0.9990 0.8301 0.7518 0.7851 0.7681 0.8258 0.9121 0.8237 0.7682 0.9981 0.8266 0.7590 0.8092 hom 1787.28 58 20 5903517 . A G 1787.28 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=59.17;MQ0=0;QD=30.82;VQSLOD=9.3019;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1820,138,0 20 5903848 5903848 C G exonic CHGB nonsynonymous SNV CHGB:NM_001819:exon4:c.C1058G:p.A353G 0.52 0.66 0.52 0.53 0.35 0.47 0.4455 0.6293 0.6567 0.5595 0.4210 0.3696 0.3584 0.4432 0.45 0.62 0.36 0.61 0.37 rs236152 COSM4001966 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.502 0.077 T 0.0 0.026 B 0.001 0.040 B 0.432 0.127 N 1 0.090 P 1.845 0.488 L 3.42 0.055 T -0.04 0.076 N 0.04 0.020 -0.997 0.308 T 0.000 0.000 T . . . -1.443 0.018 0.003 0.333 0.020 0.035 0.085 N c -1.279 -1.300 0.001 0.076 0.615 0.372 0 -1.14 0.092 -0.420 0.071 -0.023 0.128 0.000 0.063 0.001 0.043 4.588 0.116 . ENSG00000125885.9 Thyroid 0.4473 0.6278 0.6374 0.2884 0.5584 0.4151 0.3718 0.4134 0.4414 0.4789 0.6281 0.6050 0.3289 0.5614 0.4186 0.3949 0.4517 hom 5903.48 184 20 5903848 . C G 5903.48 Mask AC=2;AF=1.00;AN=2;DP=184;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8050;MQ=59.01;MQ0=0;QD=32.08;VQSLOD=8.4666;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:184:99:5903,451,0 20 5903894 5903894 A G exonic CHGB synonymous SNV CHGB:NM_001819:exon4:c.A1104G:p.E368E 0.52 0.66 0.52 0.53 0.35 0.47 0.4454 0.6288 0.6572 0.5606 0.4209 0.3695 0.3576 0.4430 0.45 0.62 0.36 0.61 0.37 rs236153 COSM4001967 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4473 0.6275 0.6375 0.2885 0.5589 0.4150 0.3718 0.4134 0.4416 0.4793 0.6286 0.6082 0.3267 0.5623 0.4192 0.3948 0.4539 hom 6916.69 217 20 5903894 . A G 6916.69 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6363;MQ=58.88;MQ0=0;QD=31.87;VQSLOD=6.4352;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6916,533,0 20 5904040 5904040 G A exonic CHGB nonsynonymous SNV CHGB:NM_001819:exon4:c.G1250A:p.R417H 0.23 0.073 0.23 0.38 0.26 0.26 0.2733 0.1060 0.3355 0.3883 0.3693 0.2683 0.2638 0.2564 0.22 0.12 0.26 0.27 0.24 rs742711 COSM149135 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . 0.313 0.139 T 0.013 0.154 B 0.002 0.063 B 0.061 0.021 N 1 0.090 P -0.27 0.037 N 4.53 0.020 T 0.64 0.024 N 0.039 0.019 -0.903 0.477 T 0.000 0.000 T . . . -1.764 0.012 0.002 0.843 0.147 0.004 0.021 N c -2.050 -2.173 1.000 0.747 0.615 0.372 0 -10.8 0.002 -2.771 0.008 -0.768 0.033 0.000 0.063 0.057 0.169 6.654 0.220 . . . 0.2793 0.0996 0.3294 0.1831 0.3874 0.3640 0.2709 0.2605 0.2569 0.2584 0.1038 0.3053 0.1887 0.3776 0.3635 0.3047 0.3368 het 1906.98 164 20 5904040 . G A 1906.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.158;DP=164;DS;Dels=0.00;FS=8.147;HRun=0;HaplotypeScore=6.6203;MQ=58.95;MQ0=0;MQRankSum=1.019;QD=11.63;ReadPosRankSum=0.929;VQSLOD=4.4982;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,70:164:99:1937,0,2641 20 5939214 5939214 A C exonic MCM8 synonymous SNV MCM8:NM_001281520:exon7:c.A631C:p.R211R,MCM8:NM_001281521:exon7:c.A631C:p.R211R,MCM8:NM_001281522:exon7:c.A631C:p.R211R,MCM8:NM_032485:exon7:c.A631C:p.R211R,MCM8:NM_182802:exon7:c.A631C:p.R211R 0.12 0.11 0.052 0.26 0.062 0.095 0.0760 0.1049 0.0362 0.2398 0.0522 0.0615 0.0672 0.0688 0.07 0.1 0.053 0.13 0.033 rs3761873 COSM4134712;COSM4134714;COSM4134713 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0732 0.1039 0.0390 0.0675 0.2419 0.0499 0.0594 0.0735 0.0694 0.0779 0.1054 0.0489 0.0861 0.2454 0.0495 0.0530 0.0622 het 1445.29 136 20 5939214 . A C 1445.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.281;DP=136;Dels=0.00;FS=1.379;HRun=1;HaplotypeScore=0.9332;MQ=59.42;MQ0=0;MQRankSum=-0.703;QD=10.63;ReadPosRankSum=0.888;VQSLOD=6.5178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,60:136:99:1475,0,1886 20 5953833 5953833 A G exonic MCM8 synonymous SNV MCM8:NM_001281520:exon12:c.A1386G:p.Q462Q,MCM8:NM_001281521:exon12:c.A1506G:p.Q502Q,MCM8:NM_032485:exon12:c.A1386G:p.Q462Q,MCM8:NM_182802:exon12:c.A1338G:p.Q446Q 0.12 0.1 0.049 0.26 0.062 0.095 0.0752 0.0973 0.0358 0.2388 0.0522 0.0615 0.0672 0.0686 0.068 0.096 0.053 0.13 0.033 rs16991617 COSM4419175;COSM4419174;COSM4419176 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0726 0.0966 0.0388 0.0675 0.2412 0.0500 0.0594 0.0729 0.0689 0.0759 0.0983 0.0490 0.0861 0.2460 0.0493 0.0530 0.0622 het 2560.96 202 20 5953833 . A G 2560.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DP=202;Dels=0.00;FS=4.008;HRun=0;HaplotypeScore=3.9912;MQ=59.46;MQ0=0;MQRankSum=1.266;QD=12.68;ReadPosRankSum=-0.266;VQSLOD=5.5697;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:98,104:202:99:2591,0,2547 20 6064710 6064710 A G exonic FERMT1 synonymous SNV FERMT1:NM_017671:exon13:c.T1695C:p.F565F 0.4 0.31 0.46 0.62 0.36 0.28 0.3683 0.3464 0.4825 0.6293 0.2667 0.3520 0.3548 0.2729 0.36 0.35 0.36 0.37 0.36 rs753927 COSM5427044 1(breast);1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Kindler's_syndrome RCV000247068.1|RCV000279721.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0406557:173650:ORPHA2908:238835001:238836000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3754 0.3441 0.4874 0.3785 0.6325 0.2705 0.3557 0.3649 0.2733 0.3680 0.3557 0.4725 0.3808 0.6337 0.2629 0.3661 0.3513 hom 1690.66 59 20 6064710 . A G 1690.66 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.66;VQSLOD=13.3321;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1724,135,0 20 6065729 6065729 C T exonic FERMT1 nonsynonymous SNV FERMT1:NM_017671:exon12:c.G1577A:p.R526K 0.46 0.46 0.48 0.64 0.38 0.33 0.3977 0.4597 0.5007 0.6498 0.2691 0.3684 0.3888 0.3254 0.063 0.084 0.052 . 0.42 rs2232074 COSM4419571;COSM4419572 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Kindler's_syndrome RCV000243729.1|RCV000399582.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0406557:173650:ORPHA2908:238835001:238836000 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.698 0.301 P -2.445 0.001 N -0.81 0.740 T 2.37 0.003 N 0.05 0.036 -0.915 0.463 T 0.000 0.000 T . . . 1.768 0.273 14.80 0.633 0.070 0.262 0.227 N c -0.938 -0.604 0.999 0.385 0.732 0.924 0 5.17 0.707 6.212 0.719 -0.220 0.097 1.000 0.715 0.978 0.483 11.280 0.482 Band 4.1 domain|FERM central domain|FERM/acyl-CoA-binding protein\x2c 3-helical bundle . . 0.4027 0.4575 0.5065 0.4297 0.6530 0.2726 0.3703 0.3926 0.3274 0.4055 0.4635 0.4832 0.43 0.6593 0.2662 0.3751 0.3678 hom 4571.24 141 20 6065729 . C T 4571.24 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=1.4450;MQ=58.89;MQ0=0;QD=32.42;VQSLOD=9.4971;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4571,355,0 20 6065731 6065731 T C exonic FERMT1 synonymous SNV FERMT1:NM_017671:exon12:c.A1575G:p.K525K 0.46 0.46 0.48 0.64 0.38 0.33 0.3978 0.4598 0.5010 0.6495 0.2692 0.3684 0.3888 0.3254 0.066 0.089 0.054 . 0.42 rs2232073 COSM4418725;COSM4418724 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Kindler's_syndrome RCV000251704.1|RCV000362483.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT CN169374|C0406557:173650:ORPHA2908:238835001:238836000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4028 0.4575 0.5066 0.4297 0.6530 0.2726 0.3703 0.3926 0.3274 0.4055 0.4634 0.4832 0.43 0.6593 0.2659 0.3751 0.3678 hom 4504.69 145 20 6065731 . T C 4504.69 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4450;MQ=58.92;MQ0=0;QD=31.07;VQSLOD=9.5461;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4504,355,0 20 6759115 6759115 A T exonic BMP2 nonsynonymous SNV BMP2:NM_001200:exon3:c.A570T:p.R190S 0.77 0.98 0.73 0.83 0.62 0.59 0.6743 0.9343 0.6942 0.8176 0.5886 0.6381 0.7042 0.6043 0.73 0.93 0.63 0.8 0.65 rs235768 COSM4134823 1(thyroid) Benign not_specified RCV000177127.2 MedGen CN169374 . . . . . . 0.096 0.310 T 0.978 0.568 D 0.871 0.601 P 0.000 0.843 D 0.000 0.588 P 3.5 0.929 M -0.45 0.699 T -4.6 0.789 D 0.305 0.390 -1.044 0.160 T 0.000 0.000 T . . . 5.069 0.683 25.3 0.997 0.776 0.901 0.508 D c 0.766 0.736 0.112 0.167 0.719 0.830 0 5.72 0.893 4.900 0.627 1.199 0.960 1.000 0.715 1.000 0.888 16.363 0.830 Transforming growth factor-beta\x2c N-terminal . . 0.6696 0.9382 0.6950 0.8127 0.8185 0.5747 0.6253 0.6835 0.6058 0.7140 0.9281 0.6826 0.8477 0.8092 0.5882 0.6127 0.6357 het 1198.57 78 20 6759115 . A T 1198.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.108;DP=78;Dels=0.00;FS=2.037;HRun=0;HaplotypeScore=2.7396;MQ=58.49;MQ0=0;MQRankSum=-0.467;QD=15.37;ReadPosRankSum=-0.231;VQSLOD=5.3491;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,48:78:99:1229,0,678 20 7964476 7964476 T C exonic TMX4 nonsynonymous SNV TMX4:NM_021156:exon7:c.A644G:p.Y215C 0.011 0.0008 0.01 . 0.041 0.0051 0.0395 0.0097 0.0111 0 0.0632 0.0601 0.0353 0.0065 0.041 0.01 0.057 . 0.025 rs1135711 . . . . . . . . . . . . . 0.279 0.197 T 0.001 0.067 B 0.002 0.063 B 0.005 0.331 N 0.999 0.219 N 1.1 0.281 L 2.93 0.178 T 1.56 0.016 N 0.061 0.379 -0.977 0.357 T 0.002 0.008 T . . . 1.115 0.201 11.30 0.803 0.127 0.042 0.095 N c -0.936 -0.887 0.124 0.169 0.732 0.924 0 -0.494 0.114 0.297 0.187 0.110 0.204 0.314 0.252 0.991 0.552 4.653 0.119 . . . 0.0383 0.0087 0.0147 0.0294 5.813e-05 0.0628 0.0599 0.0387 0.0069 0.0454 0.0111 0.0216 0.0364 0 0.0700 0.0654 0.0570 het 469.44 65 20 7964476 . T C 469.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.194;DP=65;Dels=0.00;FS=2.217;HRun=0;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;MQRankSum=1.088;QD=7.22;ReadPosRankSum=0.936;VQSLOD=5.3744;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,22:65:99:499,0,1074 20 7967980 7967980 G C exonic TMX4 synonymous SNV TMX4:NM_021156:exon6:c.C570G:p.V190V 0.07 0.0023 0.071 0.044 0.15 0.11 0.1202 0.0267 0.0506 0.0329 0.1578 0.1545 0.1283 0.1185 0.11 0.034 0.15 0.087 0.11 rs17425725 COSM3758794 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1178 0.0231 0.0542 0.0782 0.0323 0.1548 0.1578 0.1117 0.1119 0.1109 0.0323 0.0694 0.0927 0.0410 0.1471 0.1564 0.1442 het 847.88 85 20 7967980 . G C 847.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.545;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=59.29;MQ0=0;MQRankSum=-0.598;QD=9.98;ReadPosRankSum=-0.731;VQSLOD=6.0624;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,37:85:99:878,0,1148 20 7980390 7980390 C T exonic TMX4 synonymous SNV TMX4:NM_021156:exon4:c.G456A:p.P152P 0.35 0.26 0.29 0.36 0.31 0.55 0.3318 0.2678 0.2642 0.3569 0.2683 0.3094 0.3308 0.5213 0.29 0.27 0.29 0.3 0.26 rs1012891 COSM3758795 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3236 0.2615 0.2667 0.3057 0.3527 0.2647 0.3071 0.2964 0.5178 0.2807 0.2640 0.2530 0.2914 0.3404 0.2556 0.2902 0.2963 het 434.64 37 20 7980390 . C T 434.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.808;DP=37;Dels=0.00;FS=3.110;HRun=0;HaplotypeScore=4.9815;MQ=58.64;MQ0=0;MQRankSum=-1.630;QD=11.75;ReadPosRankSum=-1.112;VQSLOD=4.2184;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,17:37:99:465,0,468 20 8755243 8755243 T C exonic PLCB1 synonymous SNV PLCB1:NM_015192:exon27:c.T2988C:p.A996A,PLCB1:NM_182734:exon27:c.T2988C:p.A996A 0.61 0.64 0.5 0.46 0.65 0.78 0.6155 0.6399 0.4005 0.4915 0.5522 0.6397 0.6333 0.7420 0.64 0.63 0.64 0.64 0.69 rs2235613 COSM1130575;COSM1130576 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) Benign|Benign not_specified|Early_Infantile_Epileptic_Encephalopathy\x2c_Autosomal_Recessive RCV000117930.2|RCV000404096.1 MedGen|MedGen CN169374|CN239237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6075 0.6401 0.4295 0.7262 0.4928 0.5579 0.6355 0.6261 0.7424 0.6163 0.6384 0.5096 0.7119 0.5167 0.5516 0.6330 0.6194 het 2289 170 20 8755243 . T C 2289 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.461;DP=170;DS;Dels=0.00;FS=7.167;HRun=1;HaplotypeScore=4.7451;MQ=59.30;MQ0=0;MQRankSum=-0.005;QD=13.46;ReadPosRankSum=-1.318;VQSLOD=4.6990;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,82:170:99:2319,0,2483 20 9288522 9288522 G A exonic PLCB4 nonsynonymous SNV PLCB4:NM_000933:exon1:c.G61A:p.A21T,PLCB4:NM_182797:exon2:c.G61A:p.A21T,PLCB4:NM_001172646:exon3:c.G61A:p.A21T 0.47 0.12 0.59 0.47 0.68 0.65 0.5965 0.1851 0.5984 0.4390 0.5276 0.6775 0.6192 0.6326 0.52 0.21 0.67 0.52 0.5 rs6077510 COSM4419859 1(haematopoietic_and_lymphoid_tissue) Benign Auriculocondylar_syndrome RCV000302135.1 MedGen:Orphanet CN160484:ORPHA137888 . . . . . . 0.353 0.501 T 0.506 0.637 P 0.083 0.680 B 0.000 0.843 D 0.000 0.537 P 1.39 0.351 L 0.96 0.441 T -1.28 0.348 N 0.32 0.462 -1.075 0.083 T 0.000 0.000 T . . . 2.009 0.302 16.27 0.959 0.275 0.957 0.657 D c 0.349 0.469 1.000 0.747 0.638 0.428 0 5.86 0.939 6.012 0.702 1.048 0.713 1.000 0.715 1.000 0.888 18.970 0.927 PH domain-like . . 0.5972 0.1775 0.5903 0.7114 0.4271 0.5285 0.6771 0.6387 0.6265 0.5008 0.1928 0.5778 0.7020 0.4577 0.5446 0.6613 0.5716 hom 763.72 29 20 9288522 . G A 763.72 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=26.34;VQSLOD=8.0225;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:63.19:797,63,0 20 9496716 9496716 C G exonic LAMP5 nonsynonymous SNV LAMP5:NM_012261:exon3:c.C307G:p.Q103E 0.25 0.56 0.2 0.13 0.14 0.083 0.1992 0.5383 0.1619 0.1329 0.1922 0.1752 0.1583 0.0944 0.29 0.52 0.17 0.23 0.066 rs2232264 COSM1413351 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.810 P -2.005 0.002 N 1.51 0.309 T 1.01 0.014 N 0.066 0.052 -0.934 0.436 T 0.000 0.000 T . . . 0.674 0.158 8.655 0.779 0.116 0.219 0.213 N c -0.359 -0.066 1.000 0.747 0.767 0.994 0 6.01 0.974 6.757 0.745 0.136 0.221 1.000 0.715 0.998 0.697 17.541 0.877 . ENSG00000125869.5 Artery_Aorta 0.1795 0.5350 0.1546 0.1048 0.1238 0.1743 0.1639 0.1463 0.0764 0.2652 0.5252 0.1504 0.0927 0.1148 0.1781 0.1677 0.1670 het 472.40 38 20 9496716 . C G 472.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.844;DP=38;Dels=0.00;FS=1.282;HRun=0;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=-0.395;QD=12.43;ReadPosRankSum=0.838;VQSLOD=5.7528;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:502,0,518 20 9520133 9520133 G A exonic PAK5 synonymous SNV PAK5:NM_177990:exon10:c.C2136T:p.L712L,PAK5:NM_020341:exon11:c.C2136T:p.L712L 0.031 0.067 0.02 . 0.032 0.018 0.0294 0.0591 0.0159 0.0001 0.0305 0.0309 0.0276 0.0291 0.042 0.058 0.034 0.033 0.025 rs6039495 COSM5020294 1(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0298 0.0602 0.0180 0.0659 0.0001 0.0307 0.0309 0.0352 0.0271 0.0363 0.0597 0.0095 0.0563 0 0.0280 0.0293 0.0418 het 4185.26 242 20 9520133 . G A 4185.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.851;DP=242;DS;Dels=0.00;FS=2.213;HRun=1;HaplotypeScore=9.0276;MQ=59.75;MQ0=0;MQRankSum=-0.177;QD=17.29;ReadPosRankSum=1.382;VQSLOD=3.6604;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:109,133:242:99:3576,0,2880 20 9520142 9520142 G A exonic PAK5 synonymous SNV PAK5:NM_177990:exon10:c.C2127T:p.I709I,PAK5:NM_020341:exon11:c.C2127T:p.I709I 0.043 0.0015 0.073 . 0.13 0.03 0.1087 0.0252 0.0483 0 0.1622 0.1605 0.1090 0.0297 0.12 0.034 0.16 0.11 0.12 rs12329540 COSM5019081 8(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1055 0.0235 0.0492 0.0499 0 0.1613 0.1644 0.1063 0.0306 0.1170 0.0283 0.0538 0.0629 0 0.1695 0.1727 0.1337 het 2278.11 227 20 9520142 . G A 2278.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.771;DP=227;DS;Dels=0.00;FS=6.711;HRun=1;HaplotypeScore=7.7794;MQ=59.73;MQ0=0;MQRankSum=0.519;QD=10.04;ReadPosRankSum=0.918;VQSLOD=4.1907;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:139,88:227:99:2308,0,3684 20 9543622 9543622 C T exonic PAK5 nonsynonymous SNV PAK5:NM_177990:exon6:c.G1532A:p.S511N,PAK5:NM_020341:exon7:c.G1532A:p.S511N 0.51 0.88 0.38 0.54 0.32 0.29 0.3759 0.8053 0.4241 0.5696 0.3006 0.3034 0.3513 0.2949 0.47 0.79 0.31 0.52 0.37 rs2297345 COSM3758799 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.843 N 0.910 0.275 P 0.83 0.210 L 2.57 0.136 T 2.18 0.003 N 0.047 0.028 -1.057 0.126 T 0.000 0.000 T . . . 1.736 0.270 14.61 0.317 0.018 0.165 0.192 N c -0.233 -0.023 1.000 0.454 0.487 0.133 0 5.87 0.942 6.258 0.723 0.154 0.240 1.000 0.715 0.998 0.697 12.329 0.542 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain . . 0.3698 0.8113 0.4122 0.4089 0.5752 0.2905 0.2996 0.3442 0.2933 0.4557 0.8011 0.4093 0.3733 0.5885 0.2766 0.2956 0.3204 het 2570.88 247 20 9543622 . C T 2570.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.710;DP=247;DS;Dels=0.00;FS=0.999;HRun=1;HaplotypeScore=3.8515;MQ=58.38;MQ0=0;MQRankSum=-1.648;QD=10.41;ReadPosRankSum=-0.212;VQSLOD=4.6894;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,104:247:99:2601,0,4142 20 10019093 10019093 A G exonic ANKEF1 synonymous SNV ANKEF1:NM_198798:exon2:c.A144G:p.G48G,ANKEF1:NM_022096:exon3:c.A144G:p.G48G 0.57 0.75 0.52 0.31 0.6 0.56 0.5759 0.7370 0.5352 0.3156 0.5871 0.5943 0.6222 0.5575 0.64 0.72 0.61 0.59 0.53 rs575534 COSM4001809 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5697 0.7346 0.5433 0.5150 0.3131 0.5888 0.5995 0.5766 0.5547 0.6201 0.7369 0.5682 0.4669 0.3298 0.5841 0.5995 0.5930 het 1293.89 105 20 10019093 . A G 1293.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.503;DP=105;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6096;MQ=60.00;MQ0=0;MQRankSum=0.269;QD=12.32;ReadPosRankSum=-0.143;VQSLOD=6.0220;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,47:105:99:1324,0,1524 20 10030188 10030188 T A exonic ANKEF1 nonsynonymous SNV ANKEF1:NM_198798:exon6:c.T971A:p.L324Q,ANKEF1:NM_001303472:exon7:c.T404A:p.L135Q,ANKEF1:NM_022096:exon7:c.T971A:p.L324Q 0.2 0.27 0.16 0.0069 0.27 0.25 0.2316 0.2637 0.1316 0.0066 0.2062 0.2698 0.2693 0.2528 0.27 0.26 0.28 0.21 0.25 rs652633 . . . . . . . . . . . . . 0.258 0.167 T 0.003 0.102 B 0.005 0.104 B 0.203 0.165 N 1 0.090 P 1.83 0.482 L -0.32 0.682 T -1.93 0.448 N 0.219 0.269 -1.070 0.095 T 0.000 0.000 T . . . 0.506 0.142 7.475 0.764 0.111 0.079 0.137 N c -0.820 -0.810 0.000 0.041 0.638 0.428 0 3.19 0.356 -0.627 0.056 1.061 0.807 0.000 0.063 0.246 0.227 3.429 0.069 Ankyrin repeat-containing domain . . 0.2258 0.2636 0.1406 0.2600 0.0086 0.2063 0.2726 0.2411 0.2525 0.2380 0.2671 0.1663 0.2467 0.0080 0.1976 0.2591 0.2408 het 1672.14 106 20 10030188 . T A 1672.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.575;DP=106;Dels=0.00;FS=3.713;HRun=0;HaplotypeScore=1.6988;MQ=59.43;MQ0=0;MQRankSum=0.627;QD=15.77;ReadPosRankSum=-0.373;VQSLOD=5.6348;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,61:106:99:1702,0,1175 20 10030452 10030452 G A exonic ANKEF1 nonsynonymous SNV ANKEF1:NM_198798:exon6:c.G1235A:p.G412E,ANKEF1:NM_001303472:exon7:c.G668A:p.G223E,ANKEF1:NM_022096:exon7:c.G1235A:p.G412E 0.2 0.28 0.16 0.0069 0.26 0.24 0.2202 0.2817 0.1284 0.0066 0.1993 0.2514 0.2544 0.2414 0.26 0.26 0.26 0.21 0.19 rs524625 . . . . . . . . . . . . . 0.345 0.125 T 1.0 0.899 D 0.973 0.713 D 0.000 0.537 D 0.000 0.588 P 1.25 0.319 L -0.13 0.648 T -1.01 0.266 N 0.326 0.387 -1.184 0.003 T 0.000 0.000 T . . . 2.303 0.338 18.19 0.993 0.572 0.922 0.548 D c 0.449 0.422 0.848 0.250 0.638 0.428 0 5.86 0.939 1.886 0.391 1.048 0.713 0.998 0.411 0.921 0.396 20.563 0.993 Ankyrin repeat-containing domain . . 0.2139 0.2772 0.1365 0.2392 0.0086 0.1987 0.2531 0.2287 0.2409 0.2283 0.2761 0.1602 0.2285 0.0074 0.1893 0.2374 0.2245 het 1052.36 92 20 10030452 . G A 1052.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.659;DP=92;Dels=0.00;FS=1.757;HRun=1;HaplotypeScore=1.8533;MQ=59.59;MQ0=0;MQRankSum=0.806;QD=11.44;ReadPosRankSum=0.806;VQSLOD=6.7347;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,39:92:99:1082,0,1384 20 10032413 10032413 T G exonic ANKEF1 synonymous SNV ANKEF1:NM_198798:exon7:c.T1746G:p.A582A,ANKEF1:NM_001303472:exon8:c.T1179G:p.A393A,ANKEF1:NM_022096:exon8:c.T1746G:p.A582A 0.2 0.28 0.16 0.0069 0.27 0.25 0.2335 0.2800 0.1322 0.0066 0.2066 0.2704 0.2682 0.2528 0.28 0.27 0.28 0.21 0.25 rs683145 COSM3766609 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2268 0.2787 0.1408 0.2601 0.0086 0.2059 0.2727 0.2414 0.2524 0.2413 0.2794 0.1659 0.2483 0.0080 0.1970 0.2584 0.2444 het 1068.78 74 20 10032413 . T G 1068.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.283;DP=74;Dels=0.00;FS=3.447;HRun=0;HaplotypeScore=0.6651;MQ=59.50;MQ0=0;MQRankSum=-0.342;QD=14.44;ReadPosRankSum=-1.654;VQSLOD=6.1033;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,40:74:99:1099,0,852 20 10386013 10386013 C A exonic MKKS nonsynonymous SNV MKKS:NM_018848:exon6:c.G1595T:p.G532V,MKKS:NM_170784:exon6:c.G1595T:p.G532V 0.19 0.21 0.12 0.26 0.087 0.26 0.1437 0.1915 0.0959 0.2337 0.1149 0.1093 0.1170 0.2517 0.13 0.17 0.11 0.2 0.16 rs1545 COSM4001810 1(haematopoietic_and_lymphoid_tissue);2(soft_tissue) Benign|Likely benign|Likely benign not_specified|Bardet-Biedl_syndrome|McKusick_Kaufman_syndrome RCV000081972.5|RCV000273938.1|RCV000357044.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM CN169374|C0752166:209900:ORPHA110:5619004|C0948368:236700 . . . . . . 0.147 0.249 T 0.142 0.260 B 0.059 0.252 B 0.357 0.043 N 1.000 0.194 P 2.08 0.576 M -2.65 0.902 D -1.14 0.293 N 0.103 0.107 -1.020 0.236 T 0.000 0.001 T . . . 1.525 0.245 13.44 0.880 0.171 0.264 0.228 N c -0.775 -0.850 1.000 0.747 0.707 0.730 0 -1.62 0.079 -0.175 0.097 0.935 0.490 0.000 0.063 0.177 0.212 4.761 0.124 GroEL-like equatorial domain . . 0.1397 0.1930 0.1044 0.1015 0.2294 0.1146 0.1085 0.1328 0.2466 0.1423 0.1965 0.0883 0.1391 0.2355 0.1049 0.1135 0.1276 het 1221.51 123 20 10386013 . C A 1221.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.000;DP=123;Dels=0.00;FS=0.745;HRun=0;HaplotypeScore=2.8867;MQ=58.93;MQ0=0;MQRankSum=0.283;QD=9.93;ReadPosRankSum=0.345;VQSLOD=6.5202;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,53:123:99:1252,0,2043 20 10386059 10386059 G A exonic MKKS nonsynonymous SNV MKKS:NM_018848:exon6:c.C1549T:p.R517C,MKKS:NM_170784:exon6:c.C1549T:p.R517C 0.2 0.21 0.12 0.27 0.087 0.26 0.1441 0.1915 0.0960 0.2410 0.1148 0.1092 0.1181 0.2514 0.13 0.17 0.11 0.2 0.16 rs1547 COSM149137 1(haematopoietic_and_lymphoid_tissue);1(stomach);2(soft_tissue);1(large_intestine) Benign|Likely benign|Likely benign not_specified|Bardet-Biedl_syndrome|McKusick_Kaufman_syndrome RCV000081971.5|RCV000331388.1|RCV000370207.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM CN169374|C0752166:209900:ORPHA110:5619004|C0948368:236700 . . . . . . 0.191 0.210 T 0.0 0.026 B 0.001 0.040 B 0.140 0.029 N 1 0.090 P 0.11 0.085 N -2.09 0.861 D 0.64 0.024 N 0.03 0.011 -1.066 0.104 T 0.000 0.000 T . . . 1.050 0.195 10.94 0.820 0.135 0.078 0.136 N c -1.269 -1.285 1.000 0.747 0.719 0.830 0 -2.76 0.055 0.036 0.136 -0.714 0.037 0.000 0.063 0.001 0.043 9.489 0.379 GroEL-like equatorial domain . . 0.1404 0.1932 0.1045 0.1015 0.2380 0.1146 0.1085 0.1334 0.2464 0.1427 0.1968 0.0883 0.1391 0.2414 0.1048 0.1135 0.1283 het 1611.67 160 20 10386059 . G A 1611.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.146;DP=160;Dels=0.00;FS=2.877;HRun=0;HaplotypeScore=3.5204;MQ=58.53;MQ0=0;MQRankSum=0.392;QD=10.07;ReadPosRankSum=-0.774;VQSLOD=5.6489;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,64:160:99:1642,0,2462 20 10393629 10393629 G A exonic MKKS synonymous SNV MKKS:NM_018848:exon3:c.C534T:p.I178I,MKKS:NM_170784:exon3:c.C534T:p.I178I 0.19 0.21 0.12 0.26 0.087 0.26 0.1433 0.1896 0.0955 0.2333 0.1146 0.1092 0.1170 0.2513 0.13 0.17 0.11 0.2 0.16 rs17852625 COSM4001811 1(haematopoietic_and_lymphoid_tissue) other|Likely benign|Benign|Likely benign Bardet-Biedl_syndrome|not_provided|not_specified|McKusick_Kaufman_syndrome RCV000020861.3|RCV000132694.1|RCV000177309.3|RCV000392530.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen:OMIM C0752166:209900:ORPHA110:5619004|CN221809|CN169374|C0948368:236700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1397 0.1914 0.1041 0.1016 0.2293 0.1149 0.1086 0.1328 0.2463 0.1416 0.1942 0.0883 0.1391 0.2348 0.1048 0.1136 0.1273 het 1517.36 117 20 10393629 . G A 1517.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.894;DP=117;Dels=0.00;FS=4.577;HRun=1;HaplotypeScore=2.3479;MQ=59.64;MQ0=0;MQRankSum=-0.456;QD=12.97;ReadPosRankSum=1.455;VQSLOD=5.4145;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,58:117:99:1547,0,1738 20 10394046 10394046 G A exonic MKKS synonymous SNV MKKS:NM_018848:exon3:c.C117T:p.P39P,MKKS:NM_170784:exon3:c.C117T:p.P39P 0.24 0.37 0.13 0.26 0.089 0.27 0.1569 0.3326 0.1031 0.2356 0.1149 0.1096 0.1189 0.2525 0.18 0.31 0.11 0.21 0.17 rs16991547 COSM149138 2(haematopoietic_and_lymphoid_tissue);1(stomach) Benign|Likely benign|Benign|Benign Bardet-Biedl_syndrome|not_provided|not_specified|McKusick_Kaufman_syndrome RCV000020859.3|RCV000132693.1|RCV000177308.3|RCV000367016.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen:OMIM C0752166:209900:ORPHA110:5619004|CN221809|CN169374|C0948368:236700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1506 0.3365 0.1131 0.1026 0.2311 0.1146 0.1090 0.1399 0.2473 0.1829 0.3380 0.1062 0.1391 0.2355 0.1048 0.1137 0.1354 het 1928.01 124 20 10394046 . G A 1928.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.095;DP=124;Dels=0.00;FS=7.262;HRun=1;HaplotypeScore=4.8801;MQ=59.33;MQ0=1;MQRankSum=-0.215;QD=15.55;ReadPosRankSum=0.154;VQSLOD=4.7304;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,63:124:99:1958,0,1717 20 10620275 10620275 G A exonic JAG1 synonymous SNV JAG1:NM_000214:exon26:c.C3528T:p.Y1176Y 0.18 0.068 0.26 0.17 0.28 0.19 0.2383 0.1020 0.2690 0.1389 0.2156 0.2800 0.2533 0.1946 0.23 0.12 0.28 0.17 0.21 rs1051421 COSM149139;COSM3758425 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Arteriohepatic_dysplasia|Isolated_Nonsyndromic_Congenital_Heart_Disease RCV000035333.6|RCV000245407.1|RCV000305764.1|RCV000359120.1 MedGen|MedGen|MedGen:Orphanet:SNOMED_CT|MedGen CN169374|CN230736|C0085280:ORPHA52:31742004|CN239319 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2427 0.1034 0.2763 0.2996 0.1451 0.2215 0.2790 0.2608 0.1924 0.2145 0.1109 0.2184 0.31 0.1391 0.2191 0.2774 0.2515 het 3937.83 244 20 10620275 . G A 3937.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.461;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7937;MQ=59.85;MQ0=0;MQRankSum=0.043;QD=16.14;ReadPosRankSum=-0.264;VQSLOD=5.2186;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,126:244:99:3296,0,3339 20 10620386 10620386 A G exonic JAG1 synonymous SNV JAG1:NM_000214:exon26:c.T3417C:p.Y1139Y 0.71 0.93 0.63 0.49 0.65 0.77 0.6592 0.8988 0.6291 0.4195 0.5635 0.6405 0.6377 0.7699 0.73 0.9 0.64 0.74 0.59 rs1051419 COSM3758426;COSM149140 1(stomach);1(large_intestine) Benign\x2cBenign|Benign|Benign|Benign not_specified\x2cnot_specified|Cardiovascular_phenotype|Isolated_Nonsyndromic_Congenital_Heart_Disease|Arteriohepatic_dysplasia RCV000150844.2\x2cRCV000125430.4|RCV000250727.1|RCV000270345.1|RCV000364728.1 MedGen\x2cMedGen|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT CN169374\x2cCN169374|CN230736|CN239319|C0085280:ORPHA52:31742004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6512 0.9056 0.6401 0.6064 0.4311 0.5723 0.6411 0.6353 0.7708 0.6923 0.9037 0.6146 0.5828 0.4141 0.5693 0.6376 0.6483 het 1819.93 125 20 10620386 . A G 1819.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.277;DP=125;Dels=0.00;FS=5.873;HRun=0;HaplotypeScore=4.9054;MQ=59.33;MQ0=0;MQRankSum=-1.662;QD=14.56;ReadPosRankSum=-0.037;VQSLOD=3.8543;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,71:125:99:1850,0,1448 20 10633237 10633237 G A exonic JAG1 synonymous SNV JAG1:NM_000214:exon6:c.C765T:p.Y255Y 0.42 0.34 0.42 0.39 0.47 0.53 0.4541 0.3491 0.4449 0.3310 0.4504 0.4689 0.4744 0.5313 0.42 0.34 0.47 0.37 0.41 rs1131695 COSM3758428;COSM3758427 1(large_intestine) Benign\x2cLikely benign|Benign|Benign|Benign|Benign\x2cPathogenic not_specified\x2cnot_provided|not_specified|Cardiovascular_phenotype|Isolated_Nonsyndromic_Congenital_Heart_Disease|Arteriohepatic_dysplasia\x2cnot_provided RCV000150845.2\x2cRCV000132569.1|RCV000199026.3|RCV000254531.1|RCV000293317.1|RCV000398702.1\x2cRCV000214085.1 MedGen\x2cMedGen|MedGen|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT\x2cMedGen CN169374\x2cCN221809|CN169374|CN230736|CN239319|C0085280:ORPHA52:31742004\x2cCN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4562 0.3482 0.4440 0.5011 0.3406 0.4513 0.4667 0.4779 0.5354 0.4224 0.3535 0.4177 0.4934 0.3276 0.4487 0.4636 0.4507 het 495.29 54 20 10633237 . G A 495.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.030;DP=54;Dels=0.00;FS=1.147;HRun=0;HaplotypeScore=3.3578;MQ=59.57;MQ0=0;MQRankSum=-0.062;QD=9.17;ReadPosRankSum=-0.819;VQSLOD=6.0545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,22:54:99:525,0,862 20 13029764 13029764 A C exonic SPTLC3 synonymous SNV SPTLC3:NM_018327:exon2:c.A289C:p.R97R,SPTLC3:NM_001349945:exon3:c.A289C:p.R97R 1. 0.98 1. 1. 1. 1. 0.9989 0.9875 0.9993 1 1 1.0000 1 1 1. 0.99 1. 0.99 1. rs1431433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9990 0.9858 0.9993 1 1 1 1.0000 0.9996 1 0.9964 0.9880 0.9976 1 1 1 0.9999 0.9969 hom 2334.53 78 20 13029764 . A C 2334.53 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=29.93;VQSLOD=8.4419;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2368,202,0 20 13053018 13053018 T G exonic SPTLC3 nonsynonymous SNV SPTLC3:NM_018327:exon3:c.T418G:p.L140V,SPTLC3:NM_001349945:exon4:c.T418G:p.L140V 0.74 0.97 0.73 0.61 0.76 0.54 0.7138 0.9392 0.6989 0.5781 0.7206 0.7303 0.72 0.5915 0.8 0.93 0.73 0.76 0.68 rs243887 . . . . . . . . . . . . . 0.547 0.107 T 0.004 0.112 B 0.012 0.149 B 0.159 0.177 N 0.999 0.211 P 0.255 0.098 N -0.35 0.686 T -0.53 0.164 N 0.017 0.005 -0.975 0.362 T 0.000 0.000 T . . . -1.640 0.014 0.002 0.684 0.084 0.028 0.075 N c -1.677 -1.725 0.010 0.120 0.487 0.133 0 -6.28 0.018 -0.776 0.047 -0.226 0.095 0.000 0.063 0.098 0.188 1.115 0.016 Pyridoxal phosphate-dependent transferase . . 0.7131 0.9411 0.7010 0.7731 0.5845 0.7169 0.7299 0.7374 0.5972 0.7795 0.9363 0.7201 0.7748 0.6096 0.7281 0.7243 0.7403 het 4143.96 248 20 13053018 . T G 4143.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.276;DP=248;DS;Dels=0.00;FS=7.895;HRun=0;HaplotypeScore=4.9066;MQ=58.93;MQ0=0;MQRankSum=0.570;QD=16.71;ReadPosRankSum=-0.245;VQSLOD=4.4808;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,133:248:99:3565,0,2899 20 13053035 13053035 A G exonic SPTLC3 synonymous SNV SPTLC3:NM_018327:exon3:c.A435G:p.S145S,SPTLC3:NM_001349945:exon4:c.A435G:p.S145S 0.65 0.8 0.65 0.61 0.65 0.51 0.6293 0.7617 0.6555 0.5770 0.6256 0.6288 0.6567 0.5613 0.66 0.75 0.62 0.67 0.6 rs243888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6282 0.7634 0.6451 0.7059 0.5825 0.6247 0.6220 0.6581 0.5623 0.6587 0.7574 0.6671 0.7185 0.6082 0.6337 0.6129 0.6270 het 3161.81 231 20 13053035 . A G 3161.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.614;DP=231;DS;Dels=0.00;FS=4.576;HRun=1;HaplotypeScore=0.8321;MQ=58.91;MQ0=0;MQRankSum=-0.613;QD=13.69;ReadPosRankSum=-0.181;VQSLOD=5.8602;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,128:231:99:3192,0,2676 20 13071816 13071816 C T exonic SPTLC3 synonymous SNV SPTLC3:NM_018327:exon5:c.C693T:p.F231F,SPTLC3:NM_001349945:exon6:c.C693T:p.F231F 0.074 0.057 0.084 0.069 0.11 0.063 0.0943 0.0694 0.0684 0.0539 0.1021 0.1094 0.1222 0.0823 0.094 0.065 0.11 0.13 0.082 rs6109692 COSM3758438 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0937 0.0681 0.0766 0.1126 0.0514 0.0992 0.1085 0.1072 0.0827 0.0958 0.0726 0.0823 0.0993 0.0520 0.1105 0.1110 0.0980 het 1828.26 168 20 13071816 . C T 1828.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.097;DP=168;Dels=0.00;FS=3.705;HRun=2;HaplotypeScore=2.7777;MQ=58.83;MQ0=0;MQRankSum=1.379;QD=10.88;ReadPosRankSum=-0.436;VQSLOD=5.9087;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:98,70:168:99:1858,0,2440 20 13134768 13134768 T C exonic SPTLC3 synonymous SNV SPTLC3:NM_018327:exon10:c.T1398C:p.Y466Y,SPTLC3:NM_001349945:exon11:c.T1398C:p.Y466Y 0.15 0.15 0.22 0.23 0.13 0.061 0.1522 0.1484 0.2522 0.2216 0.1488 0.1441 0.1403 0.0826 0.14 0.14 0.14 0.25 0.16 rs6078938 COSM3758439 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1556 0.1492 0.2405 0.1000 0.2168 0.1551 0.1476 0.1386 0.0818 0.1565 0.1509 0.2196 0.1424 0.1928 0.1517 0.1541 0.1510 het 1720.60 107 20 13134768 . T C 1720.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.390;DP=107;Dels=0.00;FS=11.122;HRun=0;HaplotypeScore=0.6651;MQ=59.65;MQ0=0;MQRankSum=0.331;QD=16.08;ReadPosRankSum=0.836;VQSLOD=4.3540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,62:107:99:1751,0,1090 20 13140720 13140720 G A exonic SPTLC3 nonsynonymous SNV SPTLC3:NM_018327:exon11:c.G1486A:p.A496T,SPTLC3:NM_001349945:exon12:c.G1486A:p.A496T 0.028 0.0053 0.14 0.001 0.032 0.0051 0.0422 0.0072 0.1208 0.0003 0.0899 0.0404 0.0489 0.0179 0.027 0.0085 0.035 0.043 0.049 rs61738161 . . . . . . . . . . . . . 0.561 0.063 T 0.017 0.163 B 0.01 0.139 B 0.000 0.473 N 0.994 0.588 P -1.11 0.010 N -3.57 0.949 D 0.52 0.029 N 0.27 0.328 -0.823 0.537 T 0.015 0.058 T . . . 2.575 0.371 19.95 0.988 0.455 0.572 0.301 D c -0.686 -0.484 0.000 0.060 0.487 0.133 0 1.46 0.217 2.419 0.441 0.017 0.142 0.725 0.286 0.706 0.311 1.353 0.020 Aminotransferase\x2c class I/classII|Pyridoxal phosphate-dependent transferase|Pyridoxal phosphate-dependent transferase\x2c major region\x2c subdomain 2 . . 0.0467 0.0073 0.1184 0.0112 0.0001 0.0935 0.0397 0.0435 0.0176 0.0377 0.0067 0.1079 0.0199 0 0.0852 0.0448 0.0443 het 1788.49 176 20 13140720 . G A 1788.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.906;DP=176;Dels=0.00;FS=4.526;HRun=0;HaplotypeScore=2.3001;MQ=59.34;MQ0=0;MQRankSum=1.218;QD=10.16;ReadPosRankSum=-0.280;VQSLOD=5.1622;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:103,73:176:99:1818,0,2614 20 13695680 13695680 C T exonic ESF1 synonymous SNV ESF1:NM_001276380:exon14:c.G2397A:p.R799R,ESF1:NM_016649:exon14:c.G2397A:p.R799R 0.24 0.14 0.29 0.21 0.38 0.24 0.3100 0.1546 0.2187 0.2348 0.2796 0.3692 0.3238 0.2835 0.3 0.16 0.37 0.24 0.35 rs6110019 COSM3758441 1(haematopoietic_and_lymphoid_tissue);1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3101 0.1497 0.2269 0.4534 0.2324 0.2776 0.3682 0.3567 0.2833 0.2717 0.1560 0.2482 0.4503 0.2314 0.2703 0.3399 0.2973 het 1740.89 198 20 13695680 . C T 1740.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.213;DP=198;Dels=0.00;FS=0.543;HRun=3;HaplotypeScore=7.3523;MQ=58.37;MQ0=0;MQRankSum=-1.246;QD=8.79;ReadPosRankSum=0.462;VQSLOD=3.7267;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:125,73:198:99:1771,0,3150 20 13747441 13747441 A G exonic ESF1 nonsynonymous SNV ESF1:NM_001276380:exon8:c.T1649C:p.I550T,ESF1:NM_016649:exon8:c.T1649C:p.I550T 0.81 0.81 0.81 0.9 0.69 0.82 0.7311 0.8040 0.8584 0.8917 0.6641 0.6644 0.7148 0.8092 0.71 0.8 0.67 0.79 0.6 rs3180370 COSM3758442 1(large_intestine) . . . . . . . . . . . 0.546 0.067 T 0.094 0.238 B 0.026 0.195 B 0.500 0.051 N 1 0.090 P 1.01 0.254 L 0.71 0.512 T 1.15 0.012 N 0.032 0.012 -1.007 0.279 T 0.000 0.000 T . . . -0.524 0.054 0.192 0.291 0.015 0.035 0.086 N c -1.822 -1.744 0.049 0.148 0.707 0.730 0 0.445 0.157 0.013 0.131 -1.257 0.015 0.002 0.151 0.006 0.095 4.754 0.124 . ENSG00000101247.13|ENSG00000101247.13|ENSG00000101247.13|ENSG00000101247.13 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Muscularis|Muscle_Skeletal 0.7365 0.8040 0.8450 0.7331 0.8938 0.6620 0.6669 0.7417 0.8028 0.7185 0.8035 0.8094 0.7086 0.9093 0.6649 0.6580 0.6875 hom 3133.96 96 20 13747441 . A G 3133.96 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.660;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=1.696;QD=32.65;ReadPosRankSum=1.588;VQSLOD=8.6884;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,95:96:99:3167,219,0 20 13847420 13847420 A G exonic SEL1L2 synonymous SNV SEL1L2:NM_001271539:exon15:c.T1332C:p.L444L 0.99 0.99 1. 1. 0.98 0.99 0.9892 0.9922 0.9930 0.9999 0.9949 0.9854 0.9756 0.9927 0.99 0.99 0.98 0.97 0.98 rs660710 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9891 0.9927 0.9906 0.9877 0.9999 0.9939 0.9848 0.9846 0.9930 0.9889 0.9916 0.9892 0.9901 1 0.9940 0.9851 0.9867 hom 2669.41 87 20 13847420 . A G 2669.41 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.77;MQ0=0;QD=30.68;VQSLOD=8.2364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2702,220,0 20 13912309 13912309 G A exonic SEL1L2 nonsynonymous SNV SEL1L2:NM_001271539:exon3:c.C223T:p.R75C 0.054 0.0083 0.092 0.001 0.15 0.048 0.1095 0.025 0.0635 0.0006 0.1484 0.1558 0.1275 0.0556 0.098 0.028 0.13 0.098 0.041 rs41275404 COSM1410446 1(large_intestine) . . . . . . . . . . . 0.063 0.538 T 0.0 0.026 B 0.0 0.013 B 0.158 0.030 N 1 0.090 P . . . 2.16 0.247 T 0.23 0.048 N 0.277 0.335 -1.023 0.226 T 0.000 0.001 T . . . 3.072 0.429 22.4 0.971 0.318 0.147 0.184 N c -0.755 -0.704 0.000 0.012 0.487 0.133 0 1.92 0.248 1.786 0.381 0.142 0.226 0.674 0.281 0.003 0.074 2.217 0.037 . . . 0.0975 0.0194 0.0597 0.1558 0.0003 0.1400 0.1288 0.1064 0.0511 0.0889 0.0218 0.0880 0.1556 0 0.1474 0.1213 0.1084 hom 879.31 26 20 13912309 . G A 879.31 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.82;VQSLOD=13.2700;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:75.22:912,75,0 20 14306896 14306896 G A exonic FLRT3 synonymous SNV FLRT3:NM_013281:exon2:c.C1257T:p.T419T,FLRT3:NM_198391:exon3:c.C1257T:p.T419T 0.34 0.43 0.21 0.37 0.28 0.36 0.2801 0.4266 0.1415 0.3664 0.2820 0.2592 0.2808 0.3237 0.32 0.42 0.27 0.45 0.18 rs6042672 COSM4001827 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2730 0.4328 0.1479 0.2601 0.3710 0.2738 0.2615 0.2800 0.3189 0.3152 0.4271 0.1403 0.2715 0.3858 0.2813 0.2637 0.2755 het 2017.97 191 20 14306896 . G A 2017.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.236;DP=191;Dels=0.00;FS=10.187;HRun=1;HaplotypeScore=5.4070;MQ=58.18;MQ0=0;MQRankSum=-0.235;QD=10.57;ReadPosRankSum=-0.318;VQSLOD=3.9139;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:117,74:191:99:2048,0,3140 20 15967390 15967390 C T exonic MACROD2 nonsynonymous SNV MACROD2:NM_001033087:exon10:c.C299T:p.T100M,MACROD2:NM_001351664:exon11:c.C380T:p.T127M,MACROD2:NM_001351661:exon14:c.C1004T:p.T335M,MACROD2:NM_001351663:exon14:c.C1004T:p.T335M,MACROD2:NM_080676:exon14:c.C1004T:p.T335M 0.077 0.0076 0.12 0.024 0.17 0.1 0.1344 0.0364 0.0856 0.0183 0.1022 0.1823 0.1532 0.1073 0.14 0.043 0.19 0.054 0.057 rs41275442 COSM3758452;COSM3758453 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.194 0.232 T 0.008 0.156 B 0.002 0.112 B 0.278 0.038 N 1 0.090 P 1.175 0.300 L 2.48 0.460 T -0.4 0.381 N 0.066 0.078 -1.054 0.133 T 0.000 0.000 T . . . 1.674 0.262 14.26 0.829 0.140 0.019 0.058 N c -1.500 -1.576 1.000 0.747 0.554 0.246 0 -6.69 0.016 -3.228 0.006 -2.783 0.002 0.000 0.063 0.044 0.160 6.841 0.230 Macro domain . . 0.1311 0.0301 0.0913 0.2302 0.0198 0.0946 0.1787 0.1632 0.1046 0.1150 0.0363 0.1089 0.2833 0.0186 0.1035 0.1708 0.1155 het 371.14 35 20 15967390 . C T 371.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.083;DP=35;Dels=0.00;FS=1.301;HRun=0;HaplotypeScore=0.0000;MQ=57.44;MQ0=0;MQRankSum=-0.617;QD=10.60;ReadPosRankSum=-1.017;VQSLOD=4.2069;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,15:35:99:401,0,510 20 16359567 16359567 A G exonic KIF16B nonsynonymous SNV KIF16B:NM_001199865:exon19:c.T3080C:p.M1027T,KIF16B:NM_001199866:exon19:c.T3080C:p.M1027T,KIF16B:NM_024704:exon19:c.T3080C:p.M1027T 0.79 0.88 0.7 0.97 0.55 0.78 0.6802 0.845 0.7423 0.9671 0.5706 0.5976 0.6810 0.7598 0.68 0.84 0.6 0.83 0.64 rs6034464 COSM5420082;COSM5420081 1(pancreas) . . . . . . . . . . . 0.02 0.496 D 0.001 0.119 B 0.008 0.158 B 0.277 0.150 N 1.000 0.215 P 0 0.065 N -0.31 0.694 T 0.04 0.065 N 0.02 0.015 -0.976 0.359 T 0.000 0.000 T . . . -0.020 0.092 2.401 0.631 0.069 0.547 0.294 D c -0.754 -0.579 0.864 0.252 0.744 0.983 0 4.07 0.466 3.806 0.550 0.230 0.258 0.995 0.385 0.337 0.244 10.024 0.410 . . . 0.6764 0.8441 0.7297 0.6191 0.9707 0.5639 0.5987 0.6337 0.7594 0.6961 0.8388 0.7254 0.6333 0.9673 0.5599 0.6195 0.6167 het 1989.51 185 20 16359567 . A G 1989.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.762;DP=185;Dels=0.00;FS=5.231;HRun=0;HaplotypeScore=5.5868;MQ=59.04;MQ0=0;MQRankSum=0.741;QD=10.75;ReadPosRankSum=-1.376;VQSLOD=4.6505;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:99,85:185:99:2020,0,2864 20 16486698 16486698 G A exonic KIF16B synonymous SNV KIF16B:NM_001199865:exon8:c.C837T:p.L279L,KIF16B:NM_001199866:exon8:c.C837T:p.L279L,KIF16B:NM_024704:exon8:c.C837T:p.L279L 0.24 0.058 0.28 0.38 0.28 0.27 0.2717 0.0943 0.2292 0.3704 0.2293 0.2989 0.2852 0.2679 0.24 0.1 0.31 0.16 0.29 rs2295115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2755 0.0943 0.2357 0.3216 0.3702 0.2328 0.3026 0.2754 0.2736 0.2380 0.1019 0.2518 0.3667 0.3431 0.2298 0.3041 0.2464 het 1916.50 180 20 16486698 . G A 1916.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.645;DP=180;Dels=0.00;FS=1.456;HRun=1;HaplotypeScore=4.7195;MQ=58.92;MQ0=0;MQRankSum=1.818;QD=10.65;ReadPosRankSum=0.746;VQSLOD=5.4345;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,73:180:99:1946,0,2773 20 16493533 16493533 T C exonic KIF16B synonymous SNV KIF16B:NM_001199865:exon5:c.A384G:p.G128G,KIF16B:NM_001199866:exon5:c.A384G:p.G128G,KIF16B:NM_024704:exon5:c.A384G:p.G128G 0.24 0.058 0.28 0.38 0.28 0.27 0.2721 0.0946 0.2294 0.3707 0.2298 0.2992 0.2859 0.2685 0.24 0.1 0.31 0.16 0.29 rs6135775 COSM5426717;COSM5426718 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2755 0.0946 0.2357 0.3220 0.3702 0.2323 0.3025 0.2757 0.2741 0.2382 0.1026 0.2542 0.3642 0.3422 0.2301 0.3039 0.2459 het 1727.45 118 20 16493533 . T C 1727.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.494;DP=118;Dels=0.00;FS=4.861;HRun=2;HaplotypeScore=1.9736;MQ=59.01;MQ0=0;MQRankSum=1.837;QD=14.64;ReadPosRankSum=-1.510;VQSLOD=5.0918;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,71:118:99:1757,0,1006 20 17474791 17474791 G A exonic BFSP1 synonymous SNV BFSP1:NM_001161705:exon8:c.C1551T:p.T517T,BFSP1:NM_001195:exon8:c.C1926T:p.T642T,BFSP1:NM_001278607:exon8:c.C1593T:p.T531T,BFSP1:NM_001278606:exon9:c.C1509T:p.T503T,BFSP1:NM_001278608:exon10:c.C1509T:p.T503T 0.21 0.23 0.22 0.067 0.3 0.21 0.2463 0.2469 0.2374 0.0573 0.2485 0.2822 0.2115 0.2068 0.28 0.25 0.29 0.25 0.34 rs6080717 COSM149146;COSM3758456 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000246120.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2458 0.2456 0.2439 0.2744 0.0580 0.2427 0.2843 0.2521 0.2053 0.2541 0.2545 0.2350 0.2649 0.0536 0.2403 0.2800 0.2485 het 3117.45 241 20 17474791 . G A 3117.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.749;DP=241;DS;Dels=0.00;FS=6.079;HRun=0;HaplotypeScore=3.5650;MQ=59.25;MQ0=0;MQRankSum=-0.147;QD=12.94;ReadPosRankSum=-0.097;VQSLOD=5.2447;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:118,123:241:99:3147,0,3117 20 17474968 17474968 T C exonic BFSP1 synonymous SNV BFSP1:NM_001161705:exon8:c.A1374G:p.P458P,BFSP1:NM_001195:exon8:c.A1749G:p.P583P,BFSP1:NM_001278607:exon8:c.A1416G:p.P472P,BFSP1:NM_001278606:exon9:c.A1332G:p.P444P,BFSP1:NM_001278608:exon10:c.A1332G:p.P444P 0.75 0.8 0.76 0.64 0.73 0.81 0.7285 0.7889 0.8079 0.6500 0.6607 0.7071 0.7048 0.7910 0.74 0.8 0.71 0.79 0.79 rs6080718 . . Benign not_specified RCV000254295.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7311 0.7910 0.8110 0.7643 0.6474 0.6575 0.7081 0.7280 0.7874 0.7280 0.7894 0.8150 0.7715 0.6533 0.6588 0.7117 0.7128 hom 7826.69 250 20 17474968 . T C 7826.69 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.676;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2071;MQ=59.34;MQ0=0;MQRankSum=1.690;QD=31.31;ReadPosRankSum=0.950;VQSLOD=8.4140;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7801,607,0 20 17475217 17475217 C T exonic BFSP1 synonymous SNV BFSP1:NM_001161705:exon8:c.G1125A:p.A375A,BFSP1:NM_001195:exon8:c.G1500A:p.A500A,BFSP1:NM_001278607:exon8:c.G1167A:p.A389A,BFSP1:NM_001278606:exon9:c.G1083A:p.A361A,BFSP1:NM_001278608:exon10:c.G1083A:p.A361A 0.34 0.34 0.31 0.4 0.24 0.39 0.2878 0.3335 0.3512 0.3954 0.2184 0.2452 0.2693 0.3593 0.27 0.33 0.24 0.32 0.27 rs6136118 . . Benign not_specified RCV000249959.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2886 0.3348 0.3507 0.2905 0.4029 0.2201 0.2420 0.2722 0.3547 0.2844 0.3328 0.3529 0.3079 0.4016 0.2199 0.2551 0.2714 het 1525.44 110 20 17475217 . C T 1525.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.847;DP=110;Dels=0.00;FS=0.718;HRun=0;HaplotypeScore=5.2630;MQ=59.45;MQ0=0;MQRankSum=-0.411;QD=13.87;ReadPosRankSum=-0.228;VQSLOD=5.4010;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,60:110:99:1555,0,1247 20 17479617 17479617 G A exonic BFSP1 synonymous SNV BFSP1:NM_001161705:exon6:c.C429T:p.N143N,BFSP1:NM_001195:exon6:c.C804T:p.N268N,BFSP1:NM_001278607:exon6:c.C471T:p.N157N,BFSP1:NM_001278606:exon7:c.C387T:p.N129N,BFSP1:NM_001278608:exon8:c.C387T:p.N129N 0.023 0.003 0.035 . 0.07 0.015 0.0564 0.0118 0.0225 0.0002 0.1073 0.0799 0.0574 0.0221 0.057 0.014 0.079 0.033 0.13 rs11537702 . . Benign not_specified RCV000251243.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0555 0.0127 0.0235 0.0405 0.0001 0.1005 0.0811 0.0552 0.0224 0.0581 0.0152 0.0263 0.0364 0.0006 0.0978 0.0818 0.0642 het 2072.37 166 20 17479617 . G A 2072.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.241;DP=166;Dels=0.00;FS=0.582;HRun=0;HaplotypeScore=1.9993;MQ=59.30;MQ0=0;MQRankSum=1.610;QD=12.48;ReadPosRankSum=-0.367;VQSLOD=6.5342;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,82:166:99:2102,0,1851 20 17600357 17600357 G A exonic RRBP1 nonsynonymous SNV RRBP1:NM_004587:exon19:c.C2297T:p.S766L,RRBP1:NM_001042576:exon20:c.C2297T:p.S766L 0.4 0.042 0.59 0.26 0.75 0.53 0.6135 0.1306 0.6172 0.2754 0.7684 0.7301 0.6614 0.5538 0.53 0.16 0.72 0.3 0.6 rs11960 COSM4134256;COSM4134255 1(oesophagus);1(thyroid) . . . . . . . . . . . 0.227 0.195 T 0.062 0.234 B 0.014 0.158 B 0.098 0.200 N 1 0.090 P 0.98 0.250 L 2.14 0.342 T -2.2 0.495 N 0.04 0.109 -1.032 0.199 T 0.000 0.000 T . . . 1.969 0.297 16.01 0.963 0.288 0.510 0.286 D c -0.556 -0.536 0.998 0.364 0.732 0.924 0 2.85 0.322 2.554 0.453 0.980 0.597 0.805 0.295 0.383 0.251 8.062 0.296 . ENSG00000125844.11 Skin_Sun_Exposed_Lower_leg 0.6242 0.1209 0.6169 0.7709 0.2718 0.7629 0.7274 0.6858 0.5487 0.5436 0.1451 0.6396 0.7616 0.2676 0.7705 0.7324 0.7071 het 823.11 73 20 17600357 . G A 823.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.043;DP=73;Dels=0.00;FS=4.832;HRun=1;HaplotypeScore=0.0000;MQ=58.97;MQ0=0;MQRankSum=-0.731;QD=11.28;ReadPosRankSum=0.164;VQSLOD=5.6820;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,32:73:99:853,0,1014 20 17605240 17605240 A T exonic RRBP1 nonsynonymous SNV RRBP1:NM_004587:exon13:c.T1829A:p.L610H,RRBP1:NM_001042576:exon14:c.T1829A:p.L610H 1. 1. 1. 1. 1. 1. 0.9999 0.9993 0.9999 1 1 1 1 1 1. 1. 1. 0.99 0.84 rs6034867 . . . . . . . . . . . . . 0.332 0.140 T 0.0 0.026 B 0.002 0.063 B 0.035 0.247 N 1 0.090 P -0.84 0.015 N 1.29 0.358 T 1.31 0.010 N 0.081 0.114 -1.060 0.116 T 0.000 0.000 T . . . 0.273 0.120 5.425 0.442 0.033 0.078 0.136 N c -1.265 -1.167 0.987 0.311 0.707 0.730 0 1.65 0.229 0.270 0.182 -0.511 0.051 0.008 0.178 0.760 0.324 3.747 0.080 . . . 0.9999 0.9992 1.0000 1 1 1 1 1 1 0.9996 0.9986 1 1 1 1 1 1 hom 606.63 20 20 17605240 . A T 606.63 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.56;MQ0=0;QD=30.33;VQSLOD=6.9324;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:54.16:640,54,0 20 17705677 17705677 A G exonic BANF2 nonsynonymous SNV BANF2:NM_001014977:exon2:c.A7G:p.N3D,BANF2:NM_001159495:exon2:c.A28G:p.N10D,BANF2:NM_178477:exon3:c.A7G:p.N3D 0.94 0.86 0.97 0.99 0.96 0.97 0.9612 0.8859 0.9725 0.9860 0.9716 0.9621 0.9659 0.9793 0.94 0.89 0.96 0.96 0.88 rs4814640 . . . . . . . . . . . . . 0.292 0.173 T 0.0 0.026 B 0.001 0.040 B 0.743 0.064 N 1 0.090 P . . . 0.57 0.544 T -1.35 0.526 N 0.011 0.004 -1.031 0.201 T 0.000 0.000 T . . . -1.375 0.020 0.004 0.480 0.039 0.009 0.034 N c -1.535 -1.646 0.600 0.217 0.497 0.185 0 -6.31 0.018 -1.811 0.018 -1.103 0.018 0.000 0.063 0.104 0.190 5.894 0.181 . . . 0.9639 0.8813 0.9727 0.9841 0.9867 0.9742 0.9601 0.9719 0.9805 0.9465 0.8896 0.9726 0.9801 0.9901 0.9751 0.9648 0.9674 hom 7236.92 250 20 17705677 . A G 7236.92 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.52;MQ0=0;QD=28.95;VQSLOD=8.8814;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7235,605,0 20 17932210 17932210 C T exonic SNX5 synonymous SNV SNX5:NM_001282454:exon6:c.G228A:p.E76E,SNX5:NM_014426:exon6:c.G543A:p.E181E,SNX5:NM_152227:exon7:c.G543A:p.E181E 0.3 0.12 0.23 0.44 0.26 0.48 0.3118 0.1539 0.2274 0.4462 0.3380 0.3014 0.3161 0.4312 0.25 0.16 0.29 0.14 0.22 rs2273448 COSM3758457 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3103 0.1511 0.2295 0.3314 0.4480 0.3463 0.2955 0.2910 0.4251 0.2650 0.1525 0.2566 0.3179 0.4591 0.3325 0.2918 0.2878 het 553.14 55 20 17932210 . C T 553.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.795;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4450;MQ=58.98;MQ0=0;MQRankSum=0.076;QD=10.06;ReadPosRankSum=-1.559;VQSLOD=5.3951;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,26:55:99:583,0,686 20 17956347 17956347 C T exonic MGME1 nonsynonymous SNV MGME1:NM_052865:exon3:c.C532T:p.R178W,MGME1:NM_001310338:exon4:c.C577T:p.R193W 0.0022 . 0.0043 . 0.007 0.001 0.0042 0.0010 0.0011 0 0.0165 0.0054 0.0055 0.0007 0.0032 0.0011 0.0042 . . rs143417446 . . . . . . . . . . . . . 0.077 0.531 T 0.996 0.670 D 0.663 0.511 P 0.535 0.116 N 1 0.810 D 2.08 0.576 M 0.9 0.460 T -2.08 0.475 N 0.176 0.214 -1.033 0.195 T 0.092 0.352 T . . . 5.461 0.741 26.1 0.999 0.987 0.977 0.765 D c 0.314 0.303 1.000 0.747 0.732 0.924 0 4.55 0.553 5.691 0.677 0.855 0.374 0.897 0.311 0.967 0.454 11.489 0.494 . . . 0.0044 0.0010 0.0015 0.0022 0 0.0145 0.0056 0.0044 0.0008 0.0051 0.0008 0.0048 0 0 0.0118 0.0066 0.0082 het 1283.82 92 20 17956347 . C T 1283.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.272;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.39;MQ0=0;MQRankSum=2.516;QD=13.95;ReadPosRankSum=-1.059;VQSLOD=3.8322;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,52:92:99:1314,0,1036 20 17968923 17968923 T C exonic MGME1 synonymous SNV MGME1:NM_052865:exon4:c.T846C:p.D282D,MGME1:NM_001310338:exon5:c.T891C:p.D297D 0.31 0.18 0.23 0.43 0.26 0.47 0.3144 0.2142 0.2259 0.4421 0.3329 0.2999 0.3113 0.4244 0.27 0.22 0.29 0.16 0.24 rs28455091 COSM3758459 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000253191.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3119 0.2100 0.2298 0.3326 0.4438 0.3413 0.2944 0.2917 0.4177 0.2805 0.2111 0.2542 0.3212 0.4547 0.3293 0.2913 0.2837 het 1617.71 140 20 17968923 . T C 1617.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.851;DP=140;Dels=0.00;FS=4.044;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.196;QD=11.56;ReadPosRankSum=-0.986;VQSLOD=5.6520;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,65:140:99:1648,0,1906 20 18143117 18143117 T G exonic KAT14 nonsynonymous SNV KAT14:NM_020536:exon6:c.T1199G:p.V400G 0.99 1. 0.98 1. 0.98 0.99 0.9835 0.9955 0.9871 1 0.9844 0.9762 0.9812 0.9941 0.98 0.99 0.97 0.98 0.97 rs1205193 . . . . . . . . . . . . . 0.547 0.069 T 0.0 0.026 B 0.0 0.013 B 0.000 0.460 N 0.802 0.291 P -0.69 0.019 N 2.53 0.140 T -0.14 0.096 N 0.1 0.106 -0.957 0.398 T 0.000 0.000 T . . . 1.861 0.284 15.35 0.837 0.144 0.232 0.218 N c -0.359 -0.105 0.249 0.187 0.707 0.730 0 6.03 0.978 4.054 0.569 0.136 0.221 1.000 0.715 0.988 0.529 15.238 0.730 . ENSG00000089006.12 Whole_Blood 0.9836 0.9955 0.9878 0.9750 0.9999 0.9854 0.9759 0.9805 0.9938 0.9854 0.9958 0.9869 0.9834 1 0.9837 0.9787 0.9775 hom 1892.82 58 20 18143117 . T G 1892.82 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9665;MQ=58.95;MQ0=0;QD=32.63;VQSLOD=8.8517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1926,150,0 20 18143355 18143355 C T exonic KAT14 synonymous SNV KAT14:NM_020536:exon6:c.C1437T:p.P479P 0.29 0.069 0.27 0.5 0.26 0.41 0.2879 0.0989 0.3254 0.4971 0.3303 0.2537 0.3084 0.3911 0.2 0.1 0.25 0.28 0.22 rs1205194 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2911 0.0943 0.3169 0.1649 0.4868 0.3323 0.2574 0.2647 0.3886 0.2387 0.1033 0.3230 0.1678 0.4683 0.3283 0.2662 0.2780 het 2860.23 204 20 18143355 . C T 2860.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.664;DP=204;Dels=0.00;FS=5.893;HRun=0;HaplotypeScore=5.5359;MQ=59.64;MQ0=0;MQRankSum=0.168;QD=14.02;ReadPosRankSum=-0.799;VQSLOD=4.7881;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,101:204:99:2890,0,2749 20 18167977 18167977 T C exonic KAT14 synonymous SNV KAT14:NM_020536:exon10:c.T2223C:p.P741P 0.99 1. 0.98 1. 0.98 1. 0.9859 0.9962 0.9888 1 0.9840 0.9797 0.9857 0.9960 0.98 1. 0.98 1. 0.96 rs2747404 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9858 0.9965 0.9885 0.9747 0.9999 0.9854 0.9798 0.9819 0.9957 0.9863 0.9962 0.9845 0.9834 1 0.9837 0.9803 0.9786 hom 6016 203 20 18167977 . T C 6016 Mask AC=2;AF=1.00;AN=2;DP=203;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6259;MQ=59.29;MQ0=0;QD=29.64;VQSLOD=8.6222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6015,496,0 20 18296072 18296072 T A exonic ZNF133 nonsynonymous SNV ZNF133:NM_001283005:exon2:c.T520A:p.S174T,ZNF133:NM_001283006:exon3:c.T598A:p.S200T,ZNF133:NM_001283007:exon3:c.T616A:p.S206T,ZNF133:NM_001083330:exon4:c.T574A:p.S192T,ZNF133:NM_001282998:exon4:c.T577A:p.S193T,ZNF133:NM_001282999:exon4:c.T577A:p.S193T,ZNF133:NM_001283008:exon4:c.T292A:p.S98T,ZNF133:NM_001282997:exon5:c.T577A:p.S193T,ZNF133:NM_001283000:exon5:c.T577A:p.S193T,ZNF133:NM_001283001:exon5:c.T577A:p.S193T,ZNF133:NM_001283002:exon5:c.T586A:p.S196T,ZNF133:NM_001283003:exon5:c.T388A:p.S130T,ZNF133:NM_001283004:exon5:c.T388A:p.S130T,ZNF133:NM_001282995:exon6:c.T574A:p.S192T,ZNF133:NM_001282996:exon6:c.T628A:p.S210T,ZNF133:NM_003434:exon7:c.T574A:p.S192T 0.99 1. 1. 1. 0.99 0.99 0.9948 0.9980 0.9983 1 0.9976 0.9939 0.9989 0.9897 1. 1. 0.99 1. 1. rs1033545 . . . . . . . . . . . . . 0.139 0.257 T 0.0 0.026 B 0.001 0.040 B 0.564 0.054 N 1 0.090 P -1.245 0.008 N 3.34 0.186 T -1.04 0.305 N 0.03 0.028 -1.029 0.208 T 0.000 0.000 T . . . -2.689 0.002 0.001 0.545 0.050 0.007 0.030 N c -1.883 -1.885 1.000 0.747 0.706 0.609 0 -3.74 0.041 -3.382 0.005 -1.051 0.020 0.000 0.063 0.000 0.016 2.787 0.050 . . . 0.9952 0.9981 0.9986 0.9942 1 0.9978 0.9938 0.9952 0.9910 0.9968 0.9984 0.9988 0.9901 1 0.9977 0.9956 0.9918 hom 5513.40 185 20 18296072 . T A 5513.40 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3075;MQ=59.80;MQ0=0;QD=29.80;VQSLOD=6.2884;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5512,454,0 20 18297336 18297336 G A exonic ZNF133 nonsynonymous SNV ZNF133:NM_001283005:exon2:c.G1784A:p.G595D,ZNF133:NM_001283006:exon3:c.G1862A:p.G621D,ZNF133:NM_001283007:exon3:c.G1880A:p.G627D,ZNF133:NM_001083330:exon4:c.G1838A:p.G613D,ZNF133:NM_001282998:exon4:c.G1841A:p.G614D,ZNF133:NM_001282999:exon4:c.G1841A:p.G614D,ZNF133:NM_001283008:exon4:c.G1556A:p.G519D,ZNF133:NM_001282997:exon5:c.G1841A:p.G614D,ZNF133:NM_001283000:exon5:c.G1841A:p.G614D,ZNF133:NM_001283001:exon5:c.G1841A:p.G614D,ZNF133:NM_001283002:exon5:c.G1850A:p.G617D,ZNF133:NM_001283003:exon5:c.G1652A:p.G551D,ZNF133:NM_001283004:exon5:c.G1652A:p.G551D,ZNF133:NM_001282995:exon6:c.G1838A:p.G613D,ZNF133:NM_001282996:exon6:c.G1892A:p.G631D,ZNF133:NM_003434:exon7:c.G1838A:p.G613D . . . . . . 0.0002 0 0.0007 0 0 0.0003 0.0022 6.061e-05 0.0002 . 0.0003 . . rs374733106 . . . . . . . . . . . . . 0.021 0.614 D 0.993 0.689 D 0.882 0.703 P 0.014 0.286 N 0.991 0.412 D 0.17 0.090 N 2.24 0.179 T -3.08 0.662 D 0.471 0.521 -1.126 0.020 T 0.075 0.302 T 0.010 0.255 T 4.253 0.570 23.9 0.997 0.802 0.915 0.533 D c 0.161 0.053 1.000 0.747 0.719 0.830 0 4.35 0.513 2.171 0.418 0.134 0.217 0.932 0.321 0.004 0.083 15.176 0.725 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0002 0 0.0004 0.0001 0 8.969e-05 0.0004 0.0004 3.249e-05 0.0005 0.0002 0.0012 0 0 0 0.0007 0 het 1709.17 143 20 18297336 . G A 1709.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.570;DP=143;Dels=0.00;FS=8.064;HRun=0;HaplotypeScore=8.9460;MQ=59.25;MQ0=0;MQRankSum=0.044;QD=11.95;ReadPosRankSum=0.777;VQSLOD=2.3877;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,71:143:99:1739,0,1760 20 18393312 18393312 C G exonic DZANK1 synonymous SNV DZANK1:NM_001099407:exon13:c.G1410C:p.L470L,DZANK1:NM_001351683:exon13:c.G1494C:p.L498L,DZANK1:NM_001351684:exon13:c.G1467C:p.L489L 0.63 0.6 0.64 0.31 0.8 0.81 0.7135 0.6330 0.5404 0.2886 0.7467 0.7786 0.7411 0.8263 0.74 0.65 0.79 0.55 . rs6075337 COSM3933786;COSM3933789;COSM3933790;COSM3933787;COSM3933788 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7083 0.6383 0.5494 0.7767 0.2884 0.7535 0.7820 0.7213 0.8284 0.7044 0.6418 0.5925 0.7748 0.3110 0.7391 0.7744 0.7883 hom 7965.25 248 20 18393312 . C G 7965.25 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9110;MQ=59.83;MQ0=0;QD=32.12;VQSLOD=8.0655;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7965,602,0 20 18395988 18395988 C T exonic DZANK1 nonsynonymous SNV DZANK1:NM_001099407:exon11:c.G1060A:p.G354S,DZANK1:NM_001351683:exon11:c.G1144A:p.G382S,DZANK1:NM_001351684:exon11:c.G1117A:p.G373S 0.25 0.16 0.3 0.17 0.32 0.36 0.2892 0.1747 0.2591 0.1582 0.2999 0.3113 0.3111 0.3571 0.26 0.17 0.31 0.2 . rs6035037 COSM4001843;COSM443500;COSM443499;COSM4001841;COSM4001842 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.053 0.388 T 0.267 0.319 B 0.056 0.247 B 0.181 0.171 N 1.000 0.204 P 0.275 0.100 N 0.09 0.615 T 0.6 0.025 N 0.036 0.423 -1.013 0.259 T 0.000 0.000 T . . . 3.712 0.503 23.3 0.992 0.545 0.927 0.560 D c -0.321 -0.148 0.001 0.085 0.638 0.428 0 3.54 0.395 2.665 0.462 0.816 0.334 0.997 0.399 0.491 0.269 8.633 0.329 Double zinc ribbon ENSG00000236474.1 Nerve_Tibial 0.2882 0.1725 0.2569 0.3241 0.1571 0.3093 0.3090 0.3015 0.3411 0.2641 0.1736 0.2859 0.2947 0.1749 0.3022 0.3111 0.3327 het 919.11 81 20 18395988 . C T 919.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.151;DP=81;Dels=0.00;FS=3.049;HRun=0;HaplotypeScore=1.9765;MQ=60.00;MQ0=0;MQRankSum=1.098;QD=11.35;ReadPosRankSum=0.052;VQSLOD=6.2677;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,36:81:99:949,0,1137 20 18414356 18414356 A G exonic DZANK1 synonymous SNV DZANK1:NM_001099407:exon9:c.T801C:p.C267C,DZANK1:NM_001351683:exon9:c.T885C:p.C295C,DZANK1:NM_001351684:exon9:c.T858C:p.C286C 0.83 0.68 0.82 0.85 0.89 0.97 0.8636 0.7120 0.7960 0.8342 0.8747 0.8768 0.88 0.9575 0.84 0.74 0.89 0.78 . rs6035042 COSM4134279;COSM4134280;COSM4134281;COSM4134282;COSM4134278 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8622 0.7144 0.7874 0.8546 0.8357 0.8793 0.8804 0.8638 0.9562 0.8296 0.7234 0.7967 0.8444 0.8305 0.8697 0.8795 0.8908 hom 3551.26 119 20 18414356 . A G 3551.26 Mask AC=2;AF=1.00;AN=2;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9077;MQ=58.52;MQ0=0;QD=29.84;VQSLOD=7.0295;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,119:119:99:3551,277,0 20 18445963 18445963 A G exonic DZANK1 synonymous SNV DZANK1:NM_001099407:exon2:c.T40C:p.L14L,DZANK1:NM_001351683:exon2:c.T67C:p.L23L,DZANK1:NM_001351684:exon2:c.T40C:p.L14L 0.58 0.62 0.57 0.61 0.56 0.52 0.5822 0.6058 0.6057 0.6181 0.5892 0.5833 0.5604 0.5255 0.58 0.6 0.57 0.61 . rs6035051 COSM3758466;COSM3758465;COSM3758464 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5638 0.5872 0.5862 0.5493 0.6088 0.5655 0.5647 0.5596 0.5038 0.5772 0.5849 0.5829 0.4934 0.6014 0.5779 0.5720 0.5672 hom 916.84 34 20 18445963 . A G 916.84 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.20;MQ0=0;QD=26.97;VQSLOD=8.3117;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:72.23:950,72,0 20 18462421 18462421 A G exonic POLR3F synonymous SNV POLR3F:NM_001282526:exon8:c.A717G:p.T239T,POLR3F:NM_006466:exon8:c.A840G:p.T280T 0.82 0.73 0.77 0.81 0.88 0.92 0.8459 0.7467 0.7394 0.8056 0.8642 0.8663 0.8579 0.9136 0.83 0.75 0.87 0.77 0.66 rs1055171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8429 0.7456 0.7377 0.8470 0.8077 0.8698 0.8692 0.8434 0.9092 0.8303 0.7521 0.7572 0.85 0.8074 0.8609 0.8721 0.8732 hom 7499.34 228 20 18462421 . A G 7499.34 Mask AC=2;AF=1.00;AN=2;DP=228;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.1918;MQ=58.96;MQ0=0;QD=32.89;VQSLOD=8.3348;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,228:228:99:7498,608,0 20 18513372 18513372 C T exonic SEC23B nonsynonymous SNV SEC23B:NM_001172745:exon11:c.C1298T:p.P433L,SEC23B:NM_001172746:exon11:c.C1244T:p.P415L,SEC23B:NM_006363:exon11:c.C1298T:p.P433L,SEC23B:NM_032985:exon11:c.C1298T:p.P433L,SEC23B:NM_032986:exon11:c.C1298T:p.P433L 0.061 0.0061 0.11 0.003 0.13 0.091 0.1122 0.0226 0.0955 0.0015 0.1880 0.1404 0.1300 0.0933 0.11 0.03 0.14 0.033 0.074 rs17807673 COSM4985939 9(soft_tissue) Benign|Likely benign not_specified|Congenital_dyserythropoietic_anemia RCV000081399.5|RCV000317780.1 MedGen|MedGen:Orphanet CN169374|C0002876:ORPHA85 . . . . . . 0.013 0.538 D 0.5 0.353 P 0.382 0.421 B 0.000 0.486 D 0.000 0.588 P 3.455 0.924 M -0.91 0.750 T -3.62 0.695 D 0.113 0.185 -0.774 0.567 T 0.009 0.031 T . . . 6.008 0.826 27.9 0.997 0.823 0.996 0.975 D c 0.571 0.588 1.000 0.747 0.707 0.730 0 4.75 0.598 7.341 0.784 0.935 0.490 0.998 0.411 0.998 0.697 17.270 0.869 Sec23/Sec24 beta-sandwich . . 0.1148 0.0202 0.0960 0.0649 0.0020 0.1887 0.1456 0.1138 0.0967 0.1168 0.0242 0.1053 0.0530 0.0012 0.1855 0.1673 0.1426 het 1312.15 109 20 18513372 . C T 1312.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.786;DP=109;Dels=0.00;FS=1.701;HRun=0;HaplotypeScore=8.7378;MQ=58.59;MQ0=0;MQRankSum=1.516;QD=12.04;ReadPosRankSum=0.597;VQSLOD=4.2276;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,50:109:99:1342,0,1294 20 19261623 19261623 G A exonic SLC24A3 nonsynonymous SNV SLC24A3:NM_020689:exon2:c.G163A:p.V55I 0.43 0.33 0.54 0.52 0.42 0.42 0.4396 0.3385 0.5749 0.4996 0.3244 0.4339 0.4497 0.4447 0.4 0.33 0.43 0.45 0.48 rs1569767 COSM5618124 1(breast) . . . . . . . . . . . 0.636 0.051 T 0.0 0.026 B 0.0 0.013 B 0.760 0.096 N 1 0.090 P -0.14 0.045 N 0.15 0.608 T -0.1 0.085 N 0.014 0.002 -0.916 0.462 T 0.000 0.000 T . . . 0.930 0.183 10.26 0.975 0.336 0.002 0.013 N c -0.796 -0.646 0.000 0.029 0.615 0.372 0 1.86 0.244 -0.186 0.096 -0.165 0.106 0.063 0.217 0.996 0.625 2.317 0.039 . . . 0.4400 0.3360 0.5537 0.4797 0.5029 0.3198 0.4303 0.4581 0.4384 0.3776 0.3294 0.5419 0.5033 0.5 0.3279 0.3926 0.3722 het 887.60 72 20 19261623 . G A 887.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.915;DP=72;Dels=0.00;FS=3.562;HRun=0;HaplotypeScore=2.5275;MQ=59.16;MQ0=0;MQRankSum=-1.944;QD=12.33;ReadPosRankSum=0.176;VQSLOD=5.1962;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,32:72:99:918,0,1045 20 19560664 19560664 G A exonic SLC24A3 synonymous SNV SLC24A3:NM_020689:exon4:c.G369A:p.A123A 0.65 0.45 0.71 0.66 0.79 0.74 0.7292 0.5044 0.6764 0.6564 0.8199 0.7646 0.7599 0.7648 0.68 0.52 0.76 0.69 0.75 rs3790261 COSM4001849 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7338 0.5044 0.6805 0.7793 0.6531 0.8194 0.7630 0.7529 0.7653 0.6987 0.5189 0.6933 0.7384 0.6681 0.8363 0.7694 0.7627 het 1718.84 163 20 19560664 . G A 1718.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.505;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=58.74;MQ0=1;MQRankSum=0.808;QD=10.55;ReadPosRankSum=-0.514;VQSLOD=6.6079;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,69:163:99:1749,0,2338 20 19565671 19565671 G A exonic SLC24A3 synonymous SNV SLC24A3:NM_020689:exon5:c.G480A:p.S160S 0.037 0.045 0.05 . 0.072 0.018 0.0653 0.0540 0.0320 0.0002 0.0599 0.0911 0.0728 0.0272 0.08 0.057 0.092 0.011 0.082 rs17293432 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0635 0.0516 0.0335 0.0938 0.0002 0.0587 0.0911 0.0828 0.0279 0.0692 0.0528 0.0322 0.1424 0 0.0538 0.0899 0.0767 het 1644.21 100 20 19565671 . G A 1644.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.658;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7234;MQ=59.58;MQ0=0;MQRankSum=-0.870;QD=16.44;ReadPosRankSum=0.229;VQSLOD=5.8119;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,55:100:99:1674,0,1310 20 19634732 19634732 G A exonic SLC24A3 synonymous SNV SLC24A3:NM_020689:exon7:c.G639A:p.L213L 0.56 0.77 0.57 0.27 0.63 0.48 0.5844 0.7568 0.4875 0.2534 0.6376 0.6306 0.5628 0.5105 0.67 0.75 0.62 0.41 0.55 rs3790278 COSM3758470 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5771 0.7525 0.4929 0.5685 0.2524 0.6339 0.6361 0.5930 0.5084 0.6478 0.7472 0.4976 0.5497 0.2481 0.6373 0.6463 0.6417 hom 4691.89 160 20 19634732 . G A 4691.89 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6372;MQ=58.71;MQ0=0;QD=29.32;VQSLOD=7.5741;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,159:160:99:4691,373,0 20 19634747 19634747 T C exonic SLC24A3 synonymous SNV SLC24A3:NM_020689:exon7:c.T654C:p.I218I 0.55 0.75 0.57 0.27 0.63 0.48 0.5824 0.7313 0.4870 0.2539 0.6377 0.6307 0.5606 0.5109 0.66 0.73 0.62 0.4 0.55 rs3790279 COSM3758471 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5756 0.7263 0.4925 0.5687 0.2527 0.6339 0.6362 0.5930 0.5087 0.6420 0.7251 0.5 0.5497 0.2494 0.6370 0.6469 0.6431 hom 4992.91 160 20 19634747 . T C 4992.91 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1914;MQ=58.86;MQ0=0;QD=31.21;VQSLOD=8.6207;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4992,385,0 20 19654276 19654276 C G exonic SLC24A3 nonsynonymous SNV SLC24A3:NM_020689:exon9:c.C745G:p.L249V 0.0002 . . . . 0.001 0.0030 0.0009 0.0004 0 0.0015 0.0048 0.0011 0.0012 0.0039 0.0011 0.0053 . . rs148897045 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.004 0.093 B 0.930 0.084 N 1.000 0.090 N 0.295 0.102 N 0.04 0.621 T 0.26 0.044 N 0.152 0.181 -1.054 0.133 T 0.047 0.203 T 0.005 0.124 T 0.090 0.102 3.501 0.546 0.051 0.031 0.079 N c -0.959 -0.870 0.016 0.129 0.638 0.428 0 -3.3 0.047 -0.427 0.070 0.071 0.179 0.001 0.137 0.998 0.697 1.099 0.016 Sodium/calcium exchanger membrane region . . 0.0028 0.0007 0.0008 0.0013 5.798e-05 0.0014 0.0051 0.0018 0.0009 0.0030 0.0014 0.0012 0 0 0.0014 0.0047 0.0051 het 1892.17 146 20 19654276 . C G 1892.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.804;DP=146;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=0.8941;MQ=59.54;MQ0=0;MQRankSum=-0.286;QD=12.96;ReadPosRankSum=-0.583;VQSLOD=4.7781;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,73:146:99:1922,0,1770 20 19970705 19970705 C T exonic RIN2 synonymous SNV RIN2:NM_018993:exon8:c.C1818T:p.H606H,RIN2:NM_001242581:exon9:c.C1965T:p.H655H 0.41 0.38 0.48 0.68 0.33 0.23 0.4076 0.4270 0.6544 0.7271 0.2839 0.3598 0.3545 0.2938 0.33 0.37 0.3 0.49 . rs2076584 . . Benign not_specified RCV000243556.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3662 0.3832 0.5991 0.3374 0.7111 0.2299 0.3039 0.3457 0.2455 0.3486 0.3900 0.5764 0.3079 0.7160 0.2383 0.2997 0.3316 het 393.13 27 20 19970705 . C T 393.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.903;DP=27;Dels=0.00;FS=3.473;HRun=0;HaplotypeScore=0.0000;MQ=57.73;MQ0=0;MQRankSum=-0.756;QD=14.56;ReadPosRankSum=-0.561;VQSLOD=4.5789;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,15:27:99:423,0,311 20 20032998 20032998 T C exonic CRNKL1 nonsynonymous SNV CRNKL1:NM_001278625:exon2:c.A436G:p.T146A,CRNKL1:NM_016652:exon2:c.A472G:p.T158A 0.52 0.44 0.55 0.7 0.49 0.44 0.5099 0.4393 0.6039 0.7305 0.5507 0.4825 0.5166 0.4669 0.46 0.44 0.48 0.46 0.5 rs2255255 COSM1565881 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.010 N 1 0.195 P -0.69 0.019 N 1.59 0.288 T 0.28 0.042 N 0.028 0.009 -0.939 0.428 T 0.000 0.000 T . . . -0.213 0.075 1.031 0.749 0.105 0.002 0.010 N c -1.434 -1.402 1.000 0.747 0.442 0.072 0 -0.469 0.115 -0.818 0.045 -0.893 0.027 0.000 0.063 0.005 0.090 2.587 0.045 . ENSG00000089101.13 Testis 0.5133 0.4339 0.5868 0.4654 0.7300 0.5527 0.4763 0.5113 0.4729 0.4906 0.4442 0.5849 0.5 0.7363 0.5481 0.4722 0.4918 hom 2704.07 85 20 20032998 . T C 2704.07 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8928;MQ=59.73;MQ0=0;QD=31.81;VQSLOD=9.3982;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2737,217,0 20 20033137 20033137 T A exonic CRNKL1 nonsynonymous SNV CRNKL1:NM_001278625:exon2:c.A297T:p.Q99H,CRNKL1:NM_016652:exon2:c.A333T:p.Q111H 0.7 0.62 0.76 0.94 0.61 0.62 0.6527 0.6126 0.8224 0.9403 0.6551 0.5993 0.6399 0.6240 0.59 0.62 0.58 0.72 0.58 rs2255258 COSM4134300 2(thyroid) . . . . . . . . . . . 0.825 0.029 T 0.0 0.026 B 0.0 0.013 B 0.175 0.031 N 1 0.090 P -0.345 0.033 N 1.35 0.346 T 0.09 0.059 N 0.048 0.029 -0.944 0.421 T 0.000 0.000 T . . . -1.177 0.026 0.007 0.778 0.116 0.004 0.020 N c -1.491 -1.471 1.000 0.747 0.0 0.000 3 -1.8 0.074 -0.755 0.048 0.242 0.267 0.000 0.063 0.003 0.074 0.331 0.003 . ENSG00000089101.13|ENSG00000089101.13 Testis|Thyroid 0.6576 0.6120 0.8036 0.5951 0.9425 0.6484 0.5926 0.6402 0.6264 0.6230 0.6257 0.7883 0.6126 0.9370 0.6480 0.5742 0.6002 hom 3965.35 126 20 20033137 . T A 3965.35 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8660;MQ=59.02;MQ0=0;QD=31.47;VQSLOD=8.7811;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:3965,316,0 20 20033242 20033242 A T exonic CRNKL1 synonymous SNV CRNKL1:NM_001278625:exon2:c.T192A:p.V64V,CRNKL1:NM_016652:exon2:c.T228A:p.V76V 0.52 0.44 0.55 0.7 0.49 0.44 0.5114 0.4408 0.6052 0.7322 0.5579 0.4839 0.5201 0.4670 0.46 0.44 0.48 0.52 0.49 rs2273057 COSM3758475 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5134 0.4337 0.5866 0.4658 0.7305 0.5537 0.4763 0.5104 0.4726 0.4901 0.4436 0.5837 0.5 0.7349 0.5482 0.4715 0.4919 hom 2427.23 74 20 20033242 . A T 2427.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.639;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=59.69;MQ0=0;MQRankSum=1.077;QD=32.80;ReadPosRankSum=-0.468;VQSLOD=8.4614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,73:74:99:2460,195,0 20 20033319 20033319 A G exonic CRNKL1 nonsynonymous SNV CRNKL1:NM_001278625:exon2:c.T115C:p.F39L,CRNKL1:NM_016652:exon2:c.T151C:p.F51L 0.52 0.44 0.55 0.7 0.49 0.44 0.5166 0.4457 0.6087 0.7312 0.5685 0.4887 0.5295 0.4736 0.46 0.44 0.47 0.5 0.47 rs2273058 COSM3758476 1(pancreas);2(large_intestine) . . . . . . . . . . . 0.317 0.143 T 0.009 0.139 B 0.003 0.080 B 0.000 0.005 N 1.000 0.090 P 0 0.065 N 1.56 0.296 T 0.0 0.072 N 0.04 0.020 -0.945 0.419 T 0.000 0.000 T . . . -0.824 0.039 0.038 0.635 0.070 0.012 0.042 N c -1.307 -1.313 1.000 0.747 0.437 0.062 0 0.073 0.136 1.293 0.327 0.003 0.136 0.008 0.178 0.001 0.043 4.565 0.115 . ENSG00000089101.13 Testis 0.5137 0.4325 0.5864 0.4652 0.7294 0.5540 0.4768 0.5118 0.4730 0.4903 0.4439 0.5825 0.5 0.7364 0.5487 0.4717 0.4928 hom 1643.64 52 20 20033319 . A G 1643.64 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4533;MQ=60.00;MQ0=0;QD=31.61;VQSLOD=8.7478;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1677,135,0 20 20033367 20033367 C G exonic;splicing CRNKL1;CRNKL1 NM_001278625:exon2:c.68-1G>C;NM_001278626:exon2:UTR5 nonsynonymous SNV CRNKL1:NM_016652:exon2:c.G103C:p.G35R 0.24 0.054 0.33 0.11 0.46 0.35 0.3930 0.1178 0.3368 0.1160 0.5250 0.4616 0.4447 0.4178 0.33 0.13 0.43 0.21 0.34 rs7508949 COSM3733820 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.644 0.049 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1.000 0.230 P . . . 1.25 0.365 T 0.1 0.058 N 0.012 0.001 -1.022 0.230 T 0.000 0.000 T . . . -1.079 0.029 0.011 0.628 0.069 0.005 0.025 N c -1.724 -1.833 1.0 0.983 0.437 0.062 0 -9.94 0.004 -2.819 0.008 -0.929 0.025 0.000 0.063 0.000 0.016 5.258 0.148 . ENSG00000089101.13 Testis 0.3775 0.1014 0.3241 0.4284 0.1063 0.5028 0.4416 0.4155 0.3828 0.3247 0.1139 0.3270 0.45 0.1047 0.4957 0.4235 0.4031 hom 1236.16 39 20 20033367 . C G 1236.16 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;QD=31.70;VQSLOD=8.5200;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1269,102,0 20 20033380 20033380 A G exonic CRNKL1 synonymous SNV CRNKL1:NM_016652:exon2:c.T90C:p.S30S 0.52 0.44 0.55 0.7 0.49 0.44 0.5405 0.4646 0.6225 0.7350 0.5869 0.5091 0.5384 0.5238 0.45 0.42 0.47 0.52 0.41 rs3817995 COSM3758477 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5172 0.4299 0.5869 0.4772 0.7277 0.5559 0.4802 0.5130 0.4777 0.4901 0.4432 0.5825 0.5033 0.7355 0.5484 0.4715 0.4918 hom 1179.55 34 20 20033380 . A G 1179.55 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=34.69;VQSLOD=9.1592;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:96.29:1213,96,0 20 20079360 20079360 A G exonic CFAP61 nonsynonymous SNV CFAP61:NM_001167816:exon7:c.A761G:p.H254R,CFAP61:NM_015585:exon8:c.A761G:p.H254R 0.063 0.0053 0.065 0.001 0.13 0.13 0.1125 0.0278 0.0730 0.0007 0.1247 0.1399 0.1267 0.1354 0.11 0.033 0.15 0.054 0.12 rs6075614 . . . . . . . . . . . . . 0.28 0.155 T 0.993 0.637 D 0.812 0.569 P 0.129 0.187 N 0.991 0.588 P 2.155 0.604 M 1.63 0.280 T -2.73 0.592 D 0.364 0.529 -1.123 0.021 T 0.001 0.002 T . . . -0.927 0.035 0.023 0.668 0.079 0.936 0.584 D c -0.323 -0.225 0.042 0.145 0.516 0.203 0 5.44 0.793 4.920 0.629 1.119 0.881 0.989 0.365 0.117 0.195 11.472 0.493 Cilia- and flagella-associated protein 61\x2c N-terminal domain ENSG00000241054.1 Muscle_Skeletal 0.1129 0.0251 0.0730 0.1026 0.0010 0.1280 0.1447 0.1165 0.1388 0.0990 0.0272 0.0754 0.1523 0.0019 0.1303 0.1436 0.1112 hom 6643.87 231 20 20079360 . A G 6643.87 Mask AC=2;AF=1.00;AN=2;DP=231;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7232;MQ=57.07;MQ0=0;QD=28.76;VQSLOD=5.7320;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,231:231:99:6642,548,0 20 20144772 20144772 G A exonic CFAP61 nonsynonymous SNV CFAP61:NM_001167816:exon10:c.G1105A:p.V369I,CFAP61:NM_015585:exon11:c.G1105A:p.V369I 0.46 0.56 0.43 0.28 0.55 0.44 0.4852 0.5509 0.3546 0.2208 0.4477 0.5491 0.4548 0.4316 0.56 0.55 0.56 0.55 0.55 rs6081901 . . . . . . . . . . . . . 0.614 0.100 T 0.0 0.067 B 0.0 0.040 B 0.003 0.009 N 1 0.090 P -0.69 0.019 N 3.22 0.070 T -0.05 0.078 N 0.133 0.153 -0.928 0.445 T 0.000 0.000 T . . . -0.718 0.044 0.065 0.546 0.051 0.023 0.066 N c -1.554 -1.573 0.000 0.012 0.487 0.133 0 -2.89 0.053 -0.087 0.111 -0.665 0.040 0.000 0.063 0.000 0.016 0.481 0.005 . . . 0.4793 0.5505 0.3807 0.4873 0.2158 0.4472 0.5580 0.4962 0.4311 0.5139 0.5434 0.3696 0.4768 0.2128 0.4513 0.5535 0.4980 hom 4478.63 138 20 20144772 . G A 4478.63 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=59.56;MQ0=0;QD=32.45;VQSLOD=8.9601;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4478,364,0 20 20150027 20150027 C T exonic CFAP61 synonymous SNV CFAP61:NM_001167816:exon12:c.C1308T:p.N436N,CFAP61:NM_015585:exon13:c.C1308T:p.N436N 0.14 0.037 0.13 0.041 0.27 0.26 0.2139 0.0574 0.1317 0.0482 0.2417 0.2618 0.2390 0.2508 0.2 0.063 0.27 0.15 0.23 rs6075630 COSM3758479;COSM3758478 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2151 0.0523 0.1343 0.2768 0.0510 0.2442 0.2645 0.2317 0.2531 0.1939 0.0592 0.1444 0.3221 0.0370 0.2504 0.2725 0.2515 hom 4252.95 137 20 20150027 . C T 4252.95 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=31.04;VQSLOD=9.1953;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4252,331,0 20 20232356 20232356 C T exonic CFAP61 synonymous SNV CFAP61:NM_015585:exon20:c.C2277T:p.D759D 0.067 0.028 0.066 0.021 0.14 0.095 0.1008 0.0423 0.0790 0.0229 0.1275 0.1198 0.1200 0.1056 0.094 0.042 0.12 0.054 0.16 rs56102210 COSM3758481;COSM3758480 1(lung);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1026 0.0386 0.0779 0.1406 0.0217 0.1366 0.1199 0.1227 0.1040 0.0969 0.0431 0.0835 0.1589 0.0259 0.1352 0.1237 0.1395 het 2300.31 189 20 20232356 . C T 2300.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.482;DP=189;DS;Dels=0.00;FS=2.142;HRun=0;HaplotypeScore=7.2405;MQ=59.37;MQ0=0;MQRankSum=0.327;QD=12.17;ReadPosRankSum=-0.810;VQSLOD=4.4927;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,81:189:99:2330,0,2703 20 20348962 20348962 C T exonic INSM1 synonymous SNV INSM1:NM_002196:exon1:c.C51T:p.S17S 0.074 0.077 0.088 0.0079 0.11 0.086 0.2115 0.1812 0.1132 0.0123 0.3261 0.2604 0.2232 0.1788 0.12 0.082 0.13 . 0.12 rs111558392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1278 0.0964 0.0703 0.1644 0.0057 0.1564 0.1596 0.1460 0.1000 0.1355 0.0907 0.1241 0.1190 0.0050 0.1665 0.1725 0.1562 het 259.95 17 20 20348962 . C T 259.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.107;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=0.264;QD=15.29;ReadPosRankSum=-1.318;VQSLOD=6.0815;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:5,12:17:99:290,0,122 20 21142523 21142523 C G exonic KIZ unknown UNKNOWN 0.56 0.29 0.57 0.56 0.67 0.8 0.6489 0.3564 0.5176 0.5613 0.7039 0.6866 0.6443 0.7874 0.58 0.38 0.68 0.53 . rs4815025 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . -1.79 0.003 N . . . . . . 0.05 0.036 . . . . . . . . . 0.816 0.172 9.561 0.656 0.076 0.000 0.003 N n 0.535 -0.077 0.930 0.269 0.263 0.038 0 0.915 0.184 -0.062 0.115 0.073 0.181 0.001 0.137 0.918 0.393 3.749 0.080 . ENSG00000088970.11|ENSG00000088970.11|ENSG00000088970.11|ENSG00000088970.11|ENSG00000088970.11|ENSG00000199509.1|ENSG00000088970.11|ENSG00000088970.11 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood 0.6458 0.3463 0.5226 0.7214 0.5639 0.6982 0.6816 0.6710 0.7801 0.5762 0.3533 0.5456 0.6623 0.5672 0.6837 0.6766 0.6639 het 856.44 87 20 21142523 . C G 856.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.374;DP=87;Dels=0.00;FS=1.963;HRun=1;HaplotypeScore=0.8321;MQ=59.18;MQ0=0;MQRankSum=1.481;QD=9.84;ReadPosRankSum=0.228;VQSLOD=6.1774;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,37:87:99:886,0,1177 20 21142813 21142813 T C exonic KIZ unknown UNKNOWN 0.66 0.66 0.62 0.57 0.67 0.8 0.6789 0.6620 0.5339 0.5699 0.7067 0.6913 0.6637 0.7875 0.68 0.68 0.69 0.71 . rs2236178 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B . . . . . . -0.765 0.017 N . . . . . . 0.045 0.026 . . . . . . . . . 1.212 0.211 11.81 0.800 0.126 0.035 0.085 N n 0.868 0.012 1.000 0.420 0.263 0.038 0 -1.62 0.079 -1.052 0.036 -0.328 0.075 0.248 0.246 0.961 0.442 8.177 0.303 . ENSG00000088970.11|ENSG00000088970.11|ENSG00000088970.11|ENSG00000088970.11|ENSG00000088970.11|ENSG00000088970.11|ENSG00000088970.11 Adipose_Subcutaneous|Artery_Tibial|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood 0.6716 0.6563 0.5392 0.7318 0.5716 0.7004 0.6867 0.6856 0.7834 0.6654 0.6545 0.5728 0.6821 0.5697 0.6858 0.6801 0.6973 het 2905.28 202 20 21142813 . T C 2905.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.298;DP=202;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7910;MQ=59.70;MQ0=0;MQRankSum=-0.483;QD=14.38;ReadPosRankSum=-0.308;VQSLOD=6.3360;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,109:202:99:2935,0,2437 20 21186161 21186161 - G exonic KIZ unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9997 0.9983 1 0.9985 1 1.0000 0.9985 0.9999 1. 1. 1. 0.022 . rs867003392 COSN20116319;COSN20116322;COSN20116324;COSN20116323;COSN20116320;COSN20116321 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9985 0.9999 1 0.9985 1 0.9999 1 0.9998 0.9994 0.9981 1 1 0.9988 1 1 1 hom 779.29 19 20 21186161 . A AG 779.29 Mask AC=2;AF=1.00;AN=2;DP=19;FS=0.000;HRun=2;HaplotypeScore=41.5802;MQ=61.13;MQ0=0;QD=41.02;set=variant2 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:821,57,0 20 21494184 21494184 C T exonic NKX2-2 nonsynonymous SNV NKX2-2:NM_002509:exon1:c.G124A:p.A42T 0.03 0.003 0.042 . 0.094 0.022 0.0560 0.0145 0.0348 0.0005 0.0663 0.0804 0.0590 0.0237 0.057 0.015 0.079 0.022 0.082 rs8192562 . . . . . . . . . . . . . 0.31 0.140 T 0.0 0.026 B 0.001 0.040 B 0.013 0.288 N 0.765 0.295 N -0.455 0.028 N -2.71 0.906 D -0.53 0.164 N 0.011 0.001 -0.908 0.471 T 0.026 0.110 T . . . 0.886 0.179 9.985 0.969 0.310 0.605 0.310 D c -0.859 -0.652 0.835 0.247 0.598 0.340 0 1.46 0.217 1.420 0.342 0.004 0.136 0.895 0.311 0.957 0.436 4.556 0.115 . . . 0.0547 0.0137 0.0385 0.0532 0.0003 0.0566 0.0818 0.0615 0.0241 0.0473 0.0146 0.0489 0.0464 0 0.0571 0.0688 0.0520 het 748.53 60 20 21494184 . C T 748.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.793;DP=60;Dels=0.00;FS=6.483;HRun=1;HaplotypeScore=0.9933;MQ=59.23;MQ0=0;MQRankSum=0.482;QD=12.48;ReadPosRankSum=1.860;VQSLOD=4.2911;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,28:60:99:779,0,892 20 22562674 22562674 T C exonic FOXA2 synonymous SNV FOXA2:NM_021784:exon2:c.A1206G:p.Q402Q,FOXA2:NM_153675:exon3:c.A1188G:p.Q396Q 0.96 1. 0.91 1. 0.87 0.98 0.9015 0.9740 0.9462 0.9979 0.8769 0.8594 0.8949 0.9544 0.9 0.97 0.86 0.78 . rs1212275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9011 0.9769 0.9378 0.8882 0.9989 0.8713 0.8577 0.8776 0.9564 0.8994 0.9751 0.9365 0.8775 1 0.8732 0.8495 0.8912 het 947.38 79 20 22562674 . T C 947.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DP=79;Dels=0.00;FS=7.545;HRun=0;HaplotypeScore=1.8650;MQ=59.12;MQ0=0;MQRankSum=-1.417;QD=11.99;ReadPosRankSum=-0.680;VQSLOD=3.7004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,36:79:99:977,0,1153 20 23028724 23028724 G A exonic THBD nonsynonymous SNV THBD:NM_000361:exon1:c.C1418T:p.A473V 0.16 0.022 0.15 0.3 0.19 0.2 0.1997 0.0566 0.2029 0.2966 0.3276 0.1988 0.1968 0.1866 0.14 0.057 0.18 0.12 0.057 rs1042579 COSM5655166 1(haematopoietic_and_lymphoid_tissue) Benign Atypical_hemolytic_uremic_syndrome RCV000302594.1 MedGen:Orphanet C2931788:ORPHA2134 . . . . . . 0.401 0.104 T 0.0 0.026 B 0.0 0.013 B 0.341 0.042 N 1 0.090 P 1.14 0.291 L -1.31 0.797 T -1.68 0.401 N 0.003 0.000 -1.142 0.013 T 0.000 0.000 T . . . -0.032 0.091 2.285 0.836 0.143 0.029 0.077 N c -1.420 -1.444 1.000 0.747 0.652 0.477 0 -1.34 0.086 -0.384 0.074 0.073 0.181 0.000 0.063 0.000 0.016 4.311 0.103 EGF-like domain . . 0.1918 0.0485 0.1880 0.0769 0.2913 0.2924 0.1917 0.1644 0.1798 0.1692 0.0502 0.1830 0.0795 0.2901 0.3021 0.1953 0.1711 het 465.87 37 20 23028724 . G A 465.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.272;DP=37;Dels=0.00;FS=8.806;HRun=0;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;MQRankSum=-0.472;QD=12.59;ReadPosRankSum=0.752;VQSLOD=4.4989;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,20:37:99:496,0,432 20 23065209 23065209 G A exonic CD93 nonsynonymous SNV CD93:NM_012072:exon1:c.C1621T:p.P541S 0.54 0.34 0.63 0.65 0.54 0.64 0.5635 0.3758 0.6595 0.6466 0.3957 0.5614 0.5596 0.6442 0.5 0.37 0.57 0.5 0.66 rs3746731 COSM3758486 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.357 0.120 T 0.192 0.278 B 0.086 0.280 B 0.001 0.428 N 1 0.090 P 1.355 0.339 L -1.43 0.807 T -2.22 0.498 N 0.066 0.052 -0.903 0.477 T 0.000 0.000 T . . . 0.751 0.166 9.158 0.903 0.190 0.246 0.222 N c -0.643 -0.650 1.000 0.747 0.543 0.218 0 3.84 0.433 1.550 0.356 0.087 0.193 0.019 0.194 0.002 0.062 9.364 0.372 . . . 0.5661 0.3704 0.6510 0.6441 0.6430 0.3866 0.5614 0.5988 0.6417 0.4905 0.3752 0.6663 0.6291 0.6289 0.3768 0.5530 0.5442 het 1201.07 80 20 23065209 . G A 1201.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.521;DP=80;Dels=0.00;FS=3.005;HRun=0;HaplotypeScore=0.9993;MQ=59.48;MQ0=0;MQRankSum=0.645;QD=15.01;ReadPosRankSum=0.789;VQSLOD=6.2949;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,41:80:99:1231,0,1170 20 23065342 23065342 A G exonic CD93 synonymous SNV CD93:NM_012072:exon1:c.T1488C:p.R496R 0.78 0.77 0.82 0.8 0.74 0.78 0.7716 0.7607 0.8565 0.8298 0.7041 0.7551 0.7770 0.7818 0.75 0.75 0.76 0.77 0.75 rs3746732 COSM4134317 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7727 0.7597 0.8504 0.8063 0.8299 0.6936 0.7542 0.7811 0.7766 0.7552 0.7565 0.8544 0.8146 0.8257 0.6945 0.7546 0.7505 hom 1990.57 66 20 23065342 . A G 1990.57 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2772;MQ=59.27;MQ0=0;QD=30.16;VQSLOD=9.2999;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2024,168,0 20 23375624 23375624 T C exonic NAPB nonsynonymous SNV NAPB:NM_001283020:exon4:c.A238G:p.I80V,NAPB:NM_001283026:exon4:c.A73G:p.I25V,NAPB:NM_001283018:exon5:c.A367G:p.I123V,NAPB:NM_022080:exon5:c.A355G:p.I119V 0.0006 . . . 0.002 0.001 0.0016 0.0003 0.0003 0 0.0008 0.0019 0 0.0036 0.0018 0.0007 0.0023 . . rs117825139 . . . . . . . . . . . . . 0.145 0.346 T 0.575 0.368 P 0.312 0.429 B 0.000 0.843 D 1.000 0.588 D 2.275 0.649 M 1.58 0.291 T -0.55 0.174 N 0.485 0.536 -0.923 0.452 T 0.135 0.449 T 0.020 0.426 T 3.517 0.480 23.1 0.993 0.588 0.987 0.855 D c 0.372 0.425 1.000 0.747 0.707 0.730 0 5.46 0.799 8.012 0.881 1.054 0.756 1.000 0.715 0.968 0.456 14.710 0.687 Tetratricopeptide-like helical domain . . 0.0015 6.534e-05 0.0006 0.0006 0 0.0005 0.0020 0.0009 0.0038 0.0018 0.0002 0.0012 0 0 0.0006 0.0033 0.0020 het 1242.54 112 20 23375624 . T C 1242.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.607;DP=112;Dels=0.00;FS=2.700;HRun=0;HaplotypeScore=3.3212;MQ=59.75;MQ0=0;MQRankSum=0.903;QD=11.09;ReadPosRankSum=0.191;VQSLOD=5.3786;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,48:112:99:1273,0,1706 20 23472391 23472391 A G exonic CST8 synonymous SNV CST8:NM_001281730:exon2:c.A87G:p.T29T,CST8:NM_005492:exon2:c.A87G:p.T29T 0.99 1. 0.98 1. 0.97 1. 0.9806 0.9955 0.9845 1 0.9915 0.9707 0.9780 0.9938 0.98 0.99 0.97 0.99 0.86 rs2983288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9799 0.9960 0.9821 0.9526 1 0.9926 0.9706 0.9717 0.9933 0.9815 0.9959 0.9714 0.9437 1 0.9937 0.9703 0.9715 hom 7927.37 248 20 23472391 . A G 7927.37 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9469;MQ=59.76;MQ0=0;QD=31.97;VQSLOD=8.7874;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7926,662,0 20 23586360 23586360 G A exonic CST9 nonsynonymous SNV CST9:NM_001008693:exon1:c.C142T:p.L48F 0.46 0.091 0.62 0.68 0.63 0.42 0.5662 0.1483 0.6443 0.6839 0.6792 0.6135 0.6068 0.4747 0.46 0.16 0.61 0.35 0.53 rs2983640 COSM4001857 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.723 0.039 T 0.989 0.609 D 0.87 0.600 P 0.570 0.055 N 1 0.090 P 1.24 0.311 L 1.75 0.262 T -1.29 0.324 N 0.045 0.025 -0.903 0.477 T 0.000 0.000 T . . . 0.351 0.128 6.176 0.847 0.149 0.023 0.066 N c -0.855 -1.096 0.007 0.113 0.447 0.083 0 -1.91 0.072 -0.451 0.068 -0.447 0.056 0.000 0.063 0.001 0.043 2.682 0.047 . ENSG00000101439.4 Testis 0.5828 0.1378 0.6572 0.6135 0.6859 0.6649 0.6131 0.5984 0.4829 0.4873 0.1499 0.6711 0.6225 0.6754 0.6732 0.6015 0.5743 het 4237.39 250 20 23586360 . G A 4237.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DP=250;DS;Dels=0.00;FS=10.520;HRun=1;HaplotypeScore=3.9544;MQ=59.50;MQ0=0;MQRankSum=-0.673;QD=16.95;ReadPosRankSum=-0.758;VQSLOD=4.0052;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3566,0,3582 20 23731494 23731494 A G exonic CST1 nonsynonymous SNV CST1:NM_001898:exon1:c.T10C:p.Y4H 0.83 0.96 0.71 0.9 0.71 0.78 0.7393 0.9280 0.6771 0.9049 0.6342 0.7020 0.7469 0.7601 0.77 0.92 0.7 0.53 0.61 rs6076122 . . . . . . . . . . . . . 0.226 0.185 T 0.004 0.112 B 0.0 0.013 B 0.892 0.087 N 1 0.090 P -1.1 0.010 N 3.21 0.071 T 0.28 0.042 N 0.027 0.021 -1.052 0.137 T 0.000 0.000 T . . . -0.638 0.048 0.101 0.479 0.039 0.000 0.002 N c -1.629 -1.670 0.000 0.048 0.615 0.372 0 0.348 0.152 -1.759 0.019 -0.146 0.109 0.000 0.063 0.000 0.016 4.127 0.095 . ENSG00000170373.4 Testis 0.7175 0.9296 0.6570 0.7173 0.9042 0.6063 0.6911 0.7118 0.7500 0.7535 0.9254 0.6718 0.7318 0.9062 0.5976 0.6819 0.6933 hom 1235.33 35 20 23731494 . A G 1235.33 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.26;MQ0=0;QD=35.30;VQSLOD=9.3864;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:99:1268,99,0 20 24939590 24939590 G C exonic CST7 synonymous SNV CST7:NM_003650:exon3:c.G270C:p.L90L 0.59 0.34 0.64 0.93 0.52 0.62 0.5609 0.3496 0.7250 0.9144 0.6519 0.5030 0.5771 0.5902 0.44 0.34 0.49 0.6 0.51 rs1056033 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5703 0.3533 0.7147 0.3835 0.9171 0.6485 0.4991 0.5622 0.5891 0.5020 0.3541 0.7022 0.3477 0.9240 0.6421 0.4987 0.5470 het 1530.06 116 20 24939590 . G C 1530.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.294;DP=116;Dels=0.00;FS=0.709;HRun=0;HaplotypeScore=0.9469;MQ=59.24;MQ0=0;MQRankSum=1.408;QD=13.19;ReadPosRankSum=-0.899;VQSLOD=6.1360;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,60:116:99:1560,0,1575 20 24964558 24964558 T C exonic APMAP nonsynonymous SNV APMAP:NM_020531:exon2:c.A193G:p.I65V 0.017 0.0038 0.025 . 0.057 0.0051 0.0430 0.0095 0.0135 0 0.0625 0.0662 0.0310 0.0061 0.041 0.0086 0.057 0.022 0.033 rs12242 . . . . . . . . . . . . . 0.132 0.265 T 0.947 0.542 P 0.481 0.456 P 0.000 0.843 D 1.000 0.537 D 1.425 0.359 L 1.87 0.241 T -0.47 0.152 N 0.17 0.228 -1.151 0.010 T 0.012 0.044 T . . . 2.550 0.368 19.79 0.998 0.846 0.938 0.590 D c 0.400 0.487 1.000 0.500 0.706 0.609 0 5.93 0.959 5.646 0.674 1.061 0.807 1.000 0.715 0.996 0.625 12.772 0.566 Six-bladed beta-propeller\x2c TolB-like ENSG00000100994.7 Skin_Sun_Exposed_Lower_leg 0.0400 0.0089 0.0167 0.0027 0 0.0652 0.0653 0.0374 0.0059 0.0392 0.0112 0.0167 0 0 0.0612 0.0558 0.0509 het 2296.09 194 20 24964558 . T C 2296.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.426;DP=194;Dels=0.00;FS=4.197;HRun=0;HaplotypeScore=6.6779;MQ=59.49;MQ0=0;MQRankSum=1.147;QD=11.84;ReadPosRankSum=0.059;VQSLOD=4.8098;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,87:194:99:2326,0,2544 20 24973247 24973247 C A exonic APMAP synonymous SNV APMAP:NM_020531:exon1:c.G78T:p.P26P 0.067 0.091 0.055 0.003 0.083 0.092 0.1488 0.1525 0.1429 0.0032 0.1471 0.1818 0.108 0.1109 0.085 0.085 0.085 0.065 0.041 rs11550623 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0674 0.0880 0.0405 0.0553 0.0007 0.0404 0.0856 0.0730 0.0878 0.0818 0.0982 0.0453 0.0695 0.0006 0.0444 0.0905 0.1063 het 147.89 10 20 24973247 . C A 147.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.49;MQ0=0;MQRankSum=1.036;QD=14.79;ReadPosRankSum=-0.741;VQSLOD=5.7700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,6:10:68.39:178,0,68 20 24994275 24994275 G A exonic ACSS1 synonymous SNV ACSS1:NM_001252676:exon9:c.C1113T:p.N371N,ACSS1:NM_001252675:exon10:c.C1470T:p.N490N,ACSS1:NM_001252677:exon10:c.C1476T:p.N492N,ACSS1:NM_032501:exon10:c.C1476T:p.N492N 0.076 0.11 0.068 0.003 0.098 0.093 0.0860 0.1135 0.0396 0.0006 0.0628 0.1027 0.0657 0.0895 0.1 0.11 0.1 0.065 0.082 rs6115001 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0825 0.1150 0.0471 0.0619 0.0006 0.0648 0.1046 0.0843 0.0894 0.0964 0.1130 0.0489 0.0795 0.0006 0.0688 0.1049 0.1235 het 503.98 46 20 24994275 . G A 503.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.185;DP=46;Dels=0.00;FS=1.143;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.097;QD=10.96;ReadPosRankSum=-1.296;VQSLOD=5.2723;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,20:46:99:534,0,725 20 25000734 25000734 G A exonic ACSS1 synonymous SNV ACSS1:NM_001252676:exon6:c.C795T:p.G265G,ACSS1:NM_001252675:exon7:c.C1158T:p.G386G,ACSS1:NM_001252677:exon7:c.C1158T:p.G386G,ACSS1:NM_032501:exon7:c.C1158T:p.G386G 0.11 0.23 0.079 0.003 0.098 0.092 0.0939 0.2101 0.0429 0.0006 0.0600 0.1016 0.0705 0.0893 0.14 0.2 0.1 0.087 0.11 rs6115003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0893 0.2117 0.0517 0.0634 0.0006 0.0641 0.1049 0.0868 0.0898 0.1240 0.2086 0.0561 0.0795 0.0006 0.0687 0.1054 0.1296 het 2636.26 249 20 25000734 . G A 2636.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.772;DP=249;DS;Dels=0.00;FS=3.558;HRun=0;HaplotypeScore=4.4935;MQ=59.42;MQ0=0;MQRankSum=-0.850;QD=10.59;ReadPosRankSum=-0.546;VQSLOD=5.0642;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,108:249:99:2666,0,3720 20 25011423 25011423 T C exonic ACSS1 synonymous SNV ACSS1:NM_001252676:exon2:c.A240G:p.A80A,ACSS1:NM_001252675:exon3:c.A603G:p.A201A,ACSS1:NM_001252677:exon3:c.A603G:p.A201A,ACSS1:NM_032501:exon3:c.A603G:p.A201A 0.22 0.28 0.23 0.087 0.31 0.19 0.2465 0.2918 0.1542 0.0975 0.1607 0.2957 0.2340 0.1972 0.31 0.3 0.31 0.2 0.3 rs6050259 COSM4001861;COSM4001860;COSM4001862 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2443 0.2909 0.1683 0.3068 0.1000 0.1660 0.3042 0.2748 0.1986 0.2693 0.2809 0.1902 0.3212 0.0907 0.1789 0.3064 0.2679 het 2272.71 172 20 25011423 . T C 2272.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.172;DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5458;MQ=58.60;MQ0=0;MQRankSum=1.564;QD=13.21;ReadPosRankSum=-0.032;VQSLOD=6.0970;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,91:172:99:2303,0,2105 20 25038484 25038484 G T exonic ACSS1 synonymous SNV ACSS1:NM_001252675:exon1:c.C255A:p.T85T,ACSS1:NM_001252677:exon1:c.C255A:p.T85T,ACSS1:NM_032501:exon1:c.C255A:p.T85T 0.19 0.0098 0.2 0.48 0.18 0.14 0.1802 0.0327 0.2105 0.4688 0.1736 0.1735 0.1561 0.1294 0.12 0.036 0.17 0.054 0.18 rs66817095 COSM3773977 2(kidney);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1828 0.0305 0.2113 0.1665 0.4584 0.1769 0.1697 0.1809 0.1309 0.1419 0.0325 0.2290 0.1589 0.4381 0.1691 0.1611 0.1537 het 1144.64 101 20 25038484 . G T 1144.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.587;DP=101;Dels=0.00;FS=2.043;HRun=0;HaplotypeScore=2.6040;MQ=59.54;MQ0=0;MQRankSum=0.032;QD=11.33;ReadPosRankSum=0.639;VQSLOD=6.3217;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,44:101:99:1175,0,1537 20 25059381 25059381 A T exonic VSX1 synonymous SNV VSX1:NM_199425:exon3:c.T711A:p.P237P 0.29 0.5 0.35 0.027 0.22 0.31 0.2544 0.4465 0.4385 0.0132 0.1935 0.2212 0.2434 0.2901 0.3 0.43 0.23 0.34 . rs56157240 COSM3758493 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2586 0.4472 0.4295 0.3128 0.0120 0.1943 0.2200 0.2520 0.2868 0.2750 0.4384 0.4010 0.2947 0.0149 0.1970 0.2192 0.2658 het 2008.86 166 20 25059381 . A T 2008.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.374;DP=166;Dels=0.00;FS=0.677;HRun=0;HaplotypeScore=1.9142;MQ=59.44;MQ0=0;MQRankSum=-1.995;QD=12.10;ReadPosRankSum=-1.365;VQSLOD=4.5606;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:86,80:166:99:2039,0,2509 20 25059442 25059442 C T exonic VSX1 nonsynonymous SNV VSX1:NM_199425:exon3:c.G650A:p.R217H 0.22 0.0098 0.21 0.53 0.21 0.18 0.2063 0.0379 0.2194 0.5193 0.1957 0.1993 0.1817 0.1731 0.15 0.043 0.2 0.17 0.23 rs6138482 . . . . . . . . . . . . . 0.049 0.398 D 0.008 0.135 B 0.001 0.040 B . . . 1 0.090 P . . . -3.21 0.933 D 2.58 0.002 N 0.073 0.062 -0.960 0.392 T 0.000 0.000 T . . . -0.143 0.081 1.430 0.858 0.156 0.009 0.036 N c -1.513 -1.627 1.000 0.747 0.598 0.340 0 -4.87 0.029 0.159 0.161 -1.166 0.017 0.000 0.063 0.000 0.016 0.464 0.005 Homeobox domain|Homeobox\x2c conserved site|Homeodomain-like ENSG00000154930.10|ENSG00000100994.7|ENSG00000100994.7 Cells_Transformed_fibroblasts|Skin_Sun_Exposed_Lower_leg|Thyroid 0.2105 0.0357 0.2244 0.1810 0.5114 0.1968 0.1990 0.2049 0.1761 0.1626 0.0376 0.2458 0.1755 0.4969 0.1893 0.1877 0.1732 het 2770.01 231 20 25059442 . C T 2770.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.704;DP=231;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5659;MQ=59.37;MQ0=0;MQRankSum=0.922;QD=11.99;ReadPosRankSum=0.773;VQSLOD=5.8771;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,108:231:99:2800,0,2981 20 25059546 25059546 T C exonic VSX1 synonymous SNV VSX1:NM_001256271:exon3:c.A546G:p.A182A,VSX1:NM_001256272:exon3:c.A546G:p.A182A,VSX1:NM_014588:exon3:c.A546G:p.A182A,VSX1:NM_199425:exon3:c.A546G:p.A182A 0.29 0.5 0.35 0.027 0.22 0.31 0.2543 0.4464 0.4384 0.0132 0.1935 0.2211 0.2423 0.2900 0.3 0.43 0.23 0.32 0.27 rs12480307 COSM1410857;COSM1410856 1(thyroid) Benign|Benign not_specified|Posterior_Polymorphous_Corneal_Dystrophy RCV000242534.1|RCV000307716.1 MedGen|MedGen CN169374|CN239252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2585 0.4472 0.4291 0.3127 0.0120 0.1943 0.2199 0.2521 0.2867 0.2753 0.4401 0.3983 0.2947 0.0142 0.1980 0.2189 0.2658 het 2042.02 158 20 25059546 . T C 2042.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.953;DP=158;Dels=0.00;FS=3.862;HRun=0;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;MQRankSum=-1.807;QD=12.92;ReadPosRankSum=0.497;VQSLOD=5.6359;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,84:158:99:2072,0,1958 20 25187213 25187213 G A exonic ENTPD6 nonsynonymous SNV ENTPD6:NM_001247:exon2:c.G41A:p.S14N,ENTPD6:NM_001317941:exon2:c.G41A:p.S14N,ENTPD6:NM_001322378:exon2:c.G41A:p.S14N,ENTPD6:NM_001322387:exon2:c.G41A:p.S14N,ENTPD6:NM_001322388:exon2:c.G41A:p.S14N,ENTPD6:NM_001322391:exon2:c.G41A:p.S14N,ENTPD6:NM_001322396:exon2:c.G41A:p.S14N,ENTPD6:NM_001322397:exon2:c.G41A:p.S14N,ENTPD6:NM_001322390:exon3:c.G41A:p.S14N 0.31 0.098 0.23 0.59 0.35 0.33 0.3137 0.1364 0.1625 0.6179 0.3476 0.3245 0.3128 0.3145 0.26 0.14 0.32 0.28 0.34 rs2076559 COSM5828985;COSM3758494 1(large_intestine) . . . . . . . . . . . 0.139 0.388 T 0.281 0.304 B 0.038 0.220 B . . . 1 0.090 P 0.695 0.181 N 2.18 0.342 T -0.2 0.129 N 0.048 0.243 -0.934 0.436 T 0.000 0.000 T . . . 0.767 0.167 9.256 0.914 0.201 0.010 0.037 N c -1.210 -1.277 0.778 0.238 0.706 0.609 0 -0.162 0.127 0.222 0.173 -0.329 0.075 0.001 0.137 0.001 0.043 3.466 0.071 . ENSG00000100997.14|ENSG00000101004.10|ENSG00000197586.8|ENSG00000100997.14|ENSG00000125804.9|ENSG00000100997.14|ENSG00000100997.14|ENSG00000197586.8|ENSG00000100997.14|ENSG00000100997.14|ENSG00000100997.14|ENSG00000100994.7|ENSG00000197586.8|ENSG00000100994.7|ENSG00000100997.14|ENSG00000197586.8|ENSG00000125804.9|ENSG00000100994.7|ENSG00000100994.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Hippocampus|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3132 0.1345 0.1779 0.2795 0.6126 0.3484 0.3274 0.3177 0.3146 0.2846 0.1313 0.1986 0.2914 0.6313 0.3489 0.3226 0.3360 het 1088.11 99 20 25187213 . G A 1088.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.753;DP=99;Dels=0.00;FS=3.714;HRun=1;HaplotypeScore=1.9853;MQ=59.53;MQ0=0;MQRankSum=-0.389;QD=10.99;ReadPosRankSum=-1.596;VQSLOD=5.9018;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,46:99:99:1118,0,1291 20 25193949 25193949 G A exonic ENTPD6 synonymous SNV ENTPD6:NM_001114089:exon4:c.G453A:p.P151P,ENTPD6:NM_001322386:exon4:c.G453A:p.P151P,ENTPD6:NM_001322389:exon4:c.G495A:p.P165P,ENTPD6:NM_001322392:exon4:c.G450A:p.P150P,ENTPD6:NM_001322393:exon4:c.G453A:p.P151P,ENTPD6:NM_001322394:exon4:c.G450A:p.P150P,ENTPD6:NM_001322395:exon4:c.G495A:p.P165P,ENTPD6:NM_001322398:exon4:c.G495A:p.P165P,ENTPD6:NM_001247:exon5:c.G504A:p.P168P,ENTPD6:NM_001317941:exon5:c.G501A:p.P167P,ENTPD6:NM_001322378:exon5:c.G504A:p.P168P,ENTPD6:NM_001322388:exon5:c.G504A:p.P168P,ENTPD6:NM_001322391:exon5:c.G504A:p.P168P,ENTPD6:NM_001322396:exon5:c.G501A:p.P167P,ENTPD6:NM_001322397:exon5:c.G504A:p.P168P,ENTPD6:NM_001322390:exon6:c.G504A:p.P168P 0.31 0.098 0.23 0.59 0.35 0.33 0.3135 0.1364 0.1594 0.6212 0.3483 0.3253 0.3128 0.3106 0.26 0.14 0.32 0.28 0.34 rs2076561 COSM4134338;COSM3758495 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3132 0.1349 0.1759 0.2969 0.6140 0.3488 0.3274 0.3175 0.3102 0.2850 0.1314 0.1981 0.3146 0.6318 0.3492 0.3231 0.3350 het 3091.20 231 20 25193949 . G A 3091.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.540;DP=231;Dels=0.00;FS=3.739;HRun=0;HaplotypeScore=1.9978;MQ=59.29;MQ0=0;MQRankSum=1.460;QD=13.38;ReadPosRankSum=1.543;VQSLOD=5.6051;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:111,120:231:99:3121,0,2827 20 25195509 25195509 A G exonic ENTPD6 nonsynonymous SNV ENTPD6:NM_001322385:exon4:c.A409G:p.K137E,ENTPD6:NM_001114089:exon5:c.A553G:p.K185E,ENTPD6:NM_001322386:exon5:c.A553G:p.K185E,ENTPD6:NM_001322387:exon5:c.A460G:p.K154E,ENTPD6:NM_001322389:exon5:c.A595G:p.K199E,ENTPD6:NM_001322392:exon5:c.A550G:p.K184E,ENTPD6:NM_001322393:exon5:c.A553G:p.K185E,ENTPD6:NM_001322394:exon5:c.A550G:p.K184E,ENTPD6:NM_001322395:exon5:c.A595G:p.K199E,ENTPD6:NM_001322398:exon5:c.A595G:p.K199E,ENTPD6:NM_001247:exon6:c.A604G:p.K202E,ENTPD6:NM_001317941:exon6:c.A601G:p.K201E,ENTPD6:NM_001322378:exon6:c.A604G:p.K202E,ENTPD6:NM_001322388:exon6:c.A604G:p.K202E,ENTPD6:NM_001322391:exon6:c.A604G:p.K202E,ENTPD6:NM_001322396:exon6:c.A601G:p.K201E,ENTPD6:NM_001322397:exon6:c.A604G:p.K202E,ENTPD6:NM_001322390:exon7:c.A604G:p.K202E 0.99 1. 1. 1. 0.97 1. 0.9840 0.9958 0.9963 1 0.9731 0.9756 0.9912 0.9974 0.98 0.99 0.97 1. 0.98 rs6050446 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.002 0.366 N 1.000 0.090 P -1.215 0.008 N 2.82 0.113 T 1.85 0.005 N 0.244 0.422 -0.961 0.391 T 0.000 0.000 T . . . -0.069 0.087 1.969 0.677 0.082 0.056 0.114 N c -0.533 -0.344 0.928 0.269 0.732 0.924 0 5.06 0.677 4.328 0.588 0.125 0.212 1.000 0.715 0.929 0.403 11.084 0.471 . . . 0.9837 0.9960 0.9950 0.9885 1 0.9748 0.9737 0.9872 0.9969 0.9821 0.9946 0.9928 0.9868 1 0.9765 0.9736 0.9807 hom 4013.19 132 20 25195509 . A G 4013.19 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3108;MQ=59.12;MQ0=0;QD=30.40;VQSLOD=7.9320;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4013,307,0 20 25260931 25260931 A G exonic PYGB synonymous SNV PYGB:NM_002862:exon10:c.A1122G:p.A374A 0.54 0.45 0.35 0.91 0.43 0.51 0.4611 0.4331 0.3055 0.9213 0.4590 0.4306 0.4185 0.4726 0.43 0.43 0.44 0.52 0.43 rs2227890 COSM443571 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4560 0.4369 0.3150 0.3165 0.9243 0.4551 0.4388 0.4310 0.4688 0.4742 0.4361 0.3317 0.3311 0.9259 0.4636 0.4604 0.4816 het 2066.28 149 20 25260931 . A G 2066.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.765;DP=149;Dels=0.00;FS=3.023;HRun=0;HaplotypeScore=2.7752;MQ=59.59;MQ0=0;MQRankSum=1.714;QD=13.87;ReadPosRankSum=1.160;VQSLOD=5.8708;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,83:149:99:2096,0,1644 20 25264814 25264814 T C exonic PYGB synonymous SNV PYGB:NM_002862:exon14:c.T1695C:p.D565D 0.54 0.45 0.35 0.91 0.43 0.51 0.4609 0.4328 0.3055 0.9213 0.4586 0.4305 0.4185 0.4726 0.43 0.43 0.44 0.52 0.42 rs2227892 COSM3758497 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4559 0.4368 0.3148 0.3164 0.9245 0.4547 0.4387 0.4304 0.4688 0.4744 0.4359 0.3301 0.3311 0.9259 0.4639 0.4608 0.4826 het 2526.69 250 20 25264814 . T C 2526.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.043;DP=250;DS;Dels=0.00;FS=7.040;HRun=0;HaplotypeScore=3.4073;MQ=59.35;MQ0=0;MQRankSum=0.650;QD=10.11;ReadPosRankSum=0.085;VQSLOD=4.6046;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:148,102:250:99:2557,0,4182 20 25276297 25276297 G A exonic PYGB synonymous SNV PYGB:NM_002862:exon19:c.G2370A:p.Q790Q 0.51 0.37 0.33 0.91 0.43 0.5 0.4480 0.3605 0.2969 0.9213 0.4528 0.4217 0.4108 0.4674 0.4 0.36 0.43 0.49 0.43 rs1130694 COSM3758498 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4439 0.3641 0.3044 0.3111 0.9244 0.4490 0.4289 0.4207 0.4640 0.4482 0.3630 0.3198 0.3146 0.9254 0.4591 0.4517 0.4745 het 1561.92 138 20 25276297 . G A 1561.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.857;DP=138;Dels=0.00;FS=2.365;HRun=1;HaplotypeScore=2.7351;MQ=59.56;MQ0=0;MQRankSum=0.394;QD=11.32;ReadPosRankSum=-0.211;VQSLOD=6.6146;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,66:138:99:1592,0,1840 20 25282944 25282944 A G exonic ABHD12 synonymous SNV ABHD12:NM_001042472:exon12:c.T1068C:p.D356D,ABHD12:NM_015600:exon12:c.T1068C:p.D356D 0.54 0.46 0.35 0.91 0.44 0.51 0.4632 0.4508 0.3074 0.9213 0.4554 0.4315 0.4238 0.4737 0.44 0.45 0.44 0.52 0.41 rs10966 COSM3758499;COSM3758500 1(large_intestine) other|Benign not_specified|Polyneuropathy\x2c_Hearing_Loss\x2c_Ataxia\x2c_Retinitis_Pigmentosa_and_Cataract_(PHARC) RCV000116214.3|RCV000282089.1 MedGen|MedGen CN169374|CN239154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4581 0.4559 0.3182 0.3211 0.9244 0.4522 0.4395 0.4355 0.4700 0.4793 0.4552 0.3353 0.3311 0.9252 0.4618 0.4597 0.4847 het 1178.41 92 20 25282944 . A G 1178.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.250;DP=92;Dels=0.00;FS=2.797;HRun=0;HaplotypeScore=2.7398;MQ=59.09;MQ0=0;MQRankSum=1.492;QD=12.81;ReadPosRankSum=-0.625;VQSLOD=5.4877;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,45:92:99:1208,0,1197 20 25288632 25288632 G A exonic ABHD12 synonymous SNV ABHD12:NM_001042472:exon9:c.C837T:p.R279R,ABHD12:NM_015600:exon9:c.C837T:p.R279R 0.34 0.21 0.58 0.023 0.51 0.47 0.4696 0.2574 0.6542 0.0102 0.4806 0.5217 0.5277 0.4948 0.43 0.27 0.52 0.4 0.5 rs6107027 COSM4134340;COSM4134339 1(thyroid) Likely benign|Benign not_specified|Polyneuropathy\x2c_Hearing_Loss\x2c_Ataxia\x2c_Retinitis_Pigmentosa_and_Cataract_(PHARC) RCV000116215.2|RCV000369740.1 MedGen|MedGen CN169374|CN239154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4799 0.2501 0.6380 0.6303 0.0104 0.4840 0.5161 0.5058 0.4975 0.4063 0.2607 0.6142 0.6324 0.0099 0.4773 0.4983 0.4498 het 1331.81 108 20 25288632 . G A 1331.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.957;DP=108;Dels=0.00;FS=2.649;HRun=0;HaplotypeScore=1.8874;MQ=58.96;MQ0=0;MQRankSum=-0.353;QD=12.33;ReadPosRankSum=-1.083;VQSLOD=6.2989;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,57:108:99:1362,0,1147 20 25398790 25398790 G A exonic GINS1 nonsynonymous SNV GINS1:NM_021067:exon4:c.G289A:p.V97I 0.23 0.091 0.4 0.0069 0.46 0.29 0.3791 0.1460 0.3929 0.0049 0.4244 0.4707 0.4449 0.3202 0.36 0.16 0.47 0.23 0.44 rs6076347 COSM1410878 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.002 0.063 B 0.001 0.395 N 0.047 0.378 P 0.77 0.194 N 0.87 0.464 T -0.23 0.107 N 0.032 0.015 -0.906 0.474 T 0.000 0.000 T . . . -0.469 0.057 0.262 0.616 0.066 0.874 0.466 D c -1.016 -0.851 0.162 0.176 0.707 0.730 0 0.267 0.148 1.712 0.373 -0.259 0.088 0.986 0.359 0.844 0.352 11.495 0.495 . ENSG00000204556.4|ENSG00000175170.10|ENSG00000175170.10|ENSG00000100997.14|ENSG00000101004.10|ENSG00000197586.8|ENSG00000250090.1|ENSG00000175170.10|ENSG00000100997.14|ENSG00000175170.10|ENSG00000125804.9|ENSG00000175170.10|ENSG00000175170.10|ENSG00000125804.9|ENSG00000175170.10|ENSG00000125804.9|ENSG00000100997.14|ENSG00000175170.10|ENSG00000125804.9|ENSG00000175170.10|ENSG00000175170.10|ENSG00000125804.9|ENSG00000175170.10|ENSG00000125804.9|ENSG00000175170.10|ENSG00000175170.10|ENSG00000175170.10|ENSG00000175170.10|ENSG00000100997.14|ENSG00000100997.14|ENSG00000175170.10|ENSG00000100997.14|ENSG00000197586.8|ENSG00000175170.10|ENSG00000175170.10|ENSG00000175170.10|ENSG00000100997.14|ENSG00000175170.10|ENSG00000100997.14|ENSG00000101004.10|ENSG00000100997.14|ENSG00000175170.10|ENSG00000175170.10|ENSG00000231081.1|ENSG00000130684.9|ENSG00000100997.14|ENSG00000101004.10|ENSG00000197586.8|ENSG00000175170.10|ENSG00000100997.14|ENSG00000250090.1|ENSG00000125804.9|ENSG00000175170.10|ENSG00000204556.4|ENSG00000197586.8|ENSG00000125804.9|ENSG00000213742.2|ENSG00000130684.9|ENSG00000175170.10|ENSG00000100997.14|ENSG00000250090.1|ENSG00000204556.4|ENSG00000175170.10|ENSG00000100997.14|ENSG00000250090.1|ENSG00000125804.9|ENSG00000204556.4|ENSG00000175170.10|ENSG00000101004.10|ENSG00000100994.7 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Pituitary|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood 0.3833 0.1431 0.3848 0.4852 0.0052 0.4255 0.4713 0.4265 0.3224 0.3389 0.1568 0.3708 0.5 0.0049 0.4159 0.4559 0.3714 het 2851.25 229 20 25398790 . G A 2851.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.074;DP=229;DS;Dels=0.00;FS=8.523;HRun=0;HaplotypeScore=0.7887;MQ=59.71;MQ0=0;MQRankSum=-0.811;QD=12.45;ReadPosRankSum=0.145;VQSLOD=4.6652;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,114:229:99:2881,0,2892 20 25434139 25434139 C T exonic NINL nonsynonymous SNV NINL:NM_001318226:exon23:c.G3050A:p.R1017H,NINL:NM_025176:exon24:c.G4097A:p.R1366H 0.067 0.098 0.036 0.001 0.095 0.087 0.0912 0.0971 0.0325 0.0012 0.1497 0.1016 0.0916 0.1108 0.098 0.098 0.099 0.087 0.057 rs17857107 . . . . . . . . . . . . . 0.11 0.424 T 0.025 0.689 B 0.011 0.644 B 0.355 0.043 N 1 0.090 P 1.34 0.335 L 1.34 0.348 T -1.43 0.420 N 0.025 0.013 -1.046 0.156 T 0.004 0.014 T . . . 1.879 0.287 15.46 0.998 0.847 0.045 0.099 N c -0.704 -0.855 0.630 0.219 0.722 0.854 0 -2.27 0.064 -0.102 0.108 -0.483 0.053 0.000 0.063 0.159 0.207 1.612 0.025 . ENSG00000197586.8|ENSG00000100997.14|ENSG00000197586.8|ENSG00000197586.8|ENSG00000100997.14|ENSG00000197586.8|ENSG00000100997.14|ENSG00000197586.8 Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0885 0.0952 0.0346 0.0643 0.0010 0.1396 0.1047 0.0815 0.1061 0.1043 0.0957 0.0513 0.0695 0.0006 0.1487 0.1114 0.1405 het 908.18 99 20 25434139 . C T 908.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.791;DP=99;Dels=0.00;FS=0.777;HRun=0;HaplotypeScore=0.8941;MQ=59.20;MQ0=0;MQRankSum=-0.183;QD=9.17;ReadPosRankSum=-0.312;VQSLOD=6.5226;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,39:99:99:938,0,1534 20 25456888 25456888 A G exonic NINL synonymous SNV NINL:NM_025176:exon17:c.T3039C:p.S1013S 0.56 0.54 0.36 0.91 0.43 0.5 0.4660 0.5117 0.3075 0.9206 0.4516 0.4287 0.4215 0.4685 0.46 0.51 0.43 0.54 0.41 rs437635 COSM3758501 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4590 0.5162 0.3182 0.3182 0.9236 0.4496 0.4356 0.4326 0.4649 0.4942 0.5121 0.3413 0.33 0.9272 0.4585 0.4575 0.4877 het 2156.65 165 20 25456888 . A G 2156.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DP=165;Dels=0.00;FS=0.584;HRun=0;HaplotypeScore=3.1543;MQ=58.79;MQ0=0;MQRankSum=-0.075;QD=13.07;ReadPosRankSum=0.038;VQSLOD=5.6232;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:79,85:165:99:2187,0,1971 20 25457050 25457055 CTCCCA - exonic NINL nonframeshift deletion NINL:NM_025176:exon17:c.2872_2877del:p.W958_E959del 0.56 0.54 0.36 0.91 0.43 0.5 0.4545 0.5049 0.2934 0.9113 0.4375 0.4155 0.4133 0.4638 0.42 0.47 0.4 0.25 . rs68078266 COSM1025361 2(haematopoietic_and_lymphoid_tissue);4(large_intestine);4(central_nervous_system);1(endometrium) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4506 0.5101 0.3134 0.3175 0.9196 0.4261 0.4261 0.4237 0.4617 0.4880 0.5060 0.3413 0.33 0.9225 0.4575 0.4502 0.4783 het 1063.97 47 20 25457049 . GCTCCCA G 1063.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.215;DP=47;FS=1.236;HRun=0;HaplotypeScore=297.1823;MQ=48.45;MQ0=0;MQRankSum=-4.216;QD=22.64;ReadPosRankSum=-0.486;set=variant2 GT:AD:DP:GQ:PL 0/1:28,19:47:99:1103,0,2286 20 25459764 25459764 T G exonic NINL synonymous SNV NINL:NM_001318226:exon16:c.A1996C:p.R666R,NINL:NM_025176:exon16:c.A1996C:p.R666R 0.088 0.17 0.04 0.001 0.092 0.094 0.0989 0.1621 0.0356 0.0009 0.1478 0.1042 0.0918 0.1145 0.12 0.16 0.1 0.14 0.057 rs11905437 COSM3758502 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0956 0.1614 0.0397 0.0833 0.0009 0.1374 0.1068 0.0863 0.1116 0.1244 0.1573 0.0597 0.0960 0.0006 0.1459 0.1161 0.1487 het 1632.85 118 20 25459764 . T G 1632.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.689;DP=118;Dels=0.00;FS=8.966;HRun=1;HaplotypeScore=5.8698;MQ=59.13;MQ0=0;MQRankSum=-0.441;QD=13.84;ReadPosRankSum=-1.457;VQSLOD=4.1930;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,64:118:99:1663,0,1429 20 25666642 25666642 C T exonic ZNF337 synonymous SNV ZNF337:NM_001290261:exon2:c.G144A:p.L48L,ZNF337:NM_015655:exon3:c.G144A:p.L48L 0.066 0.16 0.036 . 0.073 0.018 0.0707 0.1532 0.0291 0.0007 0.1264 0.0786 0.0728 0.0312 0.1 0.15 0.077 0.13 0.033 rs6115256 COSM3758503 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0688 0.1521 0.0325 0.0609 0.0008 0.1202 0.0795 0.0667 0.0311 0.1039 0.1464 0.0442 0.0629 0.0006 0.1274 0.0883 0.1161 het 2897.51 248 20 25666642 . C T 2897.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.708;DP=248;DS;Dels=0.00;FS=2.290;HRun=0;HaplotypeScore=7.5614;MQ=59.30;MQ0=0;MQRankSum=0.917;QD=11.68;ReadPosRankSum=-0.890;VQSLOD=4.3780;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:142,106:248:99:2928,0,4146 20 30064331 30064331 A G exonic REM1 nonsynonymous SNV REM1:NM_014012:exon2:c.A83G:p.H28R 0.45 0.9 0.34 0.27 0.32 0.26 0.3576 0.8280 0.3201 0.2942 0.3591 0.3225 0.3418 0.2625 0.48 0.8 0.31 0.53 0.34 rs1006459 COSM3773983 2(kidney);1(thyroid) . . . . . . . . . . . 0.417 0.099 T 0.0 0.026 B 0.0 0.013 B 0.952 0.077 N 1 0.090 P 0.145 0.088 N -0.15 0.652 T -0.87 0.236 N 0.013 0.002 -0.995 0.312 T 0.000 0.000 T . . . 0.040 0.097 2.978 0.727 0.097 0.030 0.078 N c -1.038 -0.979 0.097 0.163 0.603 0.348 0 0.213 0.145 -0.741 0.049 -0.529 0.049 0.000 0.063 0.095 0.187 5.039 0.137 . ENSG00000149531.10|ENSG00000205611.3|ENSG00000179772.6 Muscle_Skeletal|Nerve_Tibial|Testis 0.3458 0.8334 0.3169 0.3549 0.2921 0.3564 0.3143 0.3720 0.2644 0.4639 0.8186 0.3508 0.2947 0.2928 0.3660 0.3142 0.3740 het 1308.72 131 20 30064331 . A G 1308.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.037;DP=131;Dels=0.00;FS=4.612;HRun=0;HaplotypeScore=4.6002;MQ=59.18;MQ0=0;MQRankSum=0.861;QD=9.99;ReadPosRankSum=0.068;VQSLOD=4.8180;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,52:131:99:1339,0,2007 20 30452782 30452782 C T exonic DUSP15 synonymous SNV DUSP15:NM_001320478:exon4:c.G153A:p.P51P,DUSP15:NM_001320479:exon4:c.G153A:p.P51P,DUSP15:NM_080611:exon4:c.G162A:p.P54P 0.28 0.15 0.31 0.37 0.28 0.37 0.3123 0.1767 0.4005 0.3822 0.3008 0.2916 0.3348 0.3862 0.25 0.18 0.29 0.27 0.3 rs4911536 COSM3758512;COSM149157 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.588 P . . . . . . -4.0 0.740 D . . -0.954 0.403 T 0.000 0.000 T . . . 2.182 0.323 17.39 0.866 0.161 0.054 0.111 N c -0.511 -0.575 1.000 0.517 0.646 0.450 0 -4.79 0.029 -0.585 0.058 -1.152 0.017 0.549 0.271 0.945 0.419 0.406 0.004 . . . 0.3181 0.1734 0.3926 0.2807 0.3933 0.3044 0.2914 0.3004 0.3893 0.2809 0.1850 0.3520 0.2914 0.4146 0.3015 0.3114 0.3084 het 1130.85 110 20 30452782 . C T 1130.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.839;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.6256;MQ=58.25;MQ0=0;MQRankSum=0.985;QD=10.28;ReadPosRankSum=0.712;VQSLOD=4.4693;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,46:110:99:1161,0,1626 20 30527065 30527065 T C exonic TTLL9 synonymous SNV TTLL9:NM_001008409:exon14:c.T1239C:p.H413H 0.42 0.81 0.4 0.12 0.42 0.25 0.3921 0.7516 0.3532 0.0851 0.3948 0.4165 0.3854 0.2655 0.52 0.75 0.41 0.54 0.49 rs6061043 COSM1130663 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3840 0.7538 0.3621 0.4456 0.0827 0.3807 0.4152 0.3850 0.2646 0.4913 0.7497 0.3926 0.41 0.0994 0.3859 0.4207 0.4027 het 1162.72 71 20 30527065 . T C 1162.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.875;DP=71;Dels=0.00;FS=2.366;HRun=1;HaplotypeScore=1.8824;MQ=59.47;MQ0=0;MQRankSum=0.584;QD=16.38;ReadPosRankSum=1.001;VQSLOD=6.3986;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,41:71:99:1193,0,780 20 30818850 30818850 C T exonic POFUT1 nonsynonymous SNV POFUT1:NM_015352:exon6:c.C964T:p.L322F 0.02 0.0015 0.032 . 0.072 0.0031 0.0391 0.0101 0.0404 0 0.0478 0.0558 0.0407 0.0063 0.042 0.013 0.056 0.022 0.074 rs17268666 . . . . . . . . . . . . . 0.379 0.112 T 0.003 0.102 B 0.006 0.112 B 0.000 0.559 D 0.995 0.426 D 0.9 0.233 L 1.41 0.334 T -0.72 0.204 N 0.067 0.054 -1.091 0.053 T 0.004 0.014 T . . . 1.422 0.234 12.91 0.989 0.481 0.918 0.541 D c -0.549 -0.372 0.991 0.323 0.707 0.730 0 3.34 0.372 1.240 0.321 0.016 0.142 1.000 0.715 0.988 0.529 9.367 0.372 . . . 0.0408 0.0097 0.0459 0.0460 5.798e-05 0.0485 0.0564 0.0562 0.0065 0.0357 0.0110 0.0513 0.0397 0.0006 0.0530 0.0485 0.0407 het 2241.83 153 20 30818850 . C T 2241.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.042;DP=153;Dels=0.00;FS=5.186;HRun=1;HaplotypeScore=2.5073;MQ=59.40;MQ0=0;MQRankSum=0.215;QD=14.65;ReadPosRankSum=1.966;VQSLOD=5.2452;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,85:153:99:2272,0,1853 20 31022959 31022959 T C exonic ASXL1 nonsynonymous SNV ASXL1:NM_015338:exon12:c.T2444C:p.L815P 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1.0000 1 0.9999 1. 1. 1. 1. 1. rs6058694 . . not provided not_specified RCV000120112.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1 1 0.9999 1 1 1 1 1 1 1 1 hom 7225.57 208 20 31022959 . T C 7225.57 Mask AC=2;AF=1.00;AN=2;DP=208;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8154;MQ=59.69;MQ0=0;QD=34.74;VQSLOD=9.5479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,207:208:99:7225,590,0 20 31386347 31386347 T C exonic DNMT3B synonymous SNV DNMT3B:NM_001207056:exon12:c.T1284C:p.C428C,DNMT3B:NM_001207055:exon13:c.T1386C:p.C462C,DNMT3B:NM_175848:exon14:c.T1512C:p.C504C,DNMT3B:NM_175849:exon14:c.T1512C:p.C504C,DNMT3B:NM_175850:exon14:c.T1548C:p.C516C,DNMT3B:NM_006892:exon15:c.T1572C:p.C524C 0.76 0.91 0.66 0.99 0.42 0.71 0.5806 0.8634 0.7543 0.9973 0.4550 0.4453 0.5376 0.6599 0.58 0.83 0.45 0.76 0.49 rs6058891 COSM4134442;COSM4134441 1(thyroid) Benign|Benign Centromeric_instability_of_chromosomes_1\x2c9_and_16_and_immunodeficiency|not_specified RCV000307572.1|RCV000455468.1 MedGen:OMIM:SNOMED_CT|MedGen C0398788:242860:234633000|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5801 0.8671 0.7316 0.5066 0.9978 0.4544 0.4423 0.5201 0.6609 0.5962 0.8523 0.7050 0.47 0.9957 0.4335 0.4437 0.5102 het 451.12 42 20 31386347 . T C 451.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.097;DP=42;Dels=0.00;FS=1.202;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=1.668;QD=10.74;ReadPosRankSum=0.101;VQSLOD=6.1212;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,19:42:99:481,0,675 20 31386449 31386449 T C exonic DNMT3B synonymous SNV DNMT3B:NM_001207056:exon12:c.T1386C:p.Y462Y,DNMT3B:NM_001207055:exon13:c.T1488C:p.Y496Y,DNMT3B:NM_175848:exon14:c.T1614C:p.Y538Y,DNMT3B:NM_175849:exon14:c.T1614C:p.Y538Y,DNMT3B:NM_175850:exon14:c.T1650C:p.Y550Y,DNMT3B:NM_006892:exon15:c.T1674C:p.Y558Y 0.76 0.91 0.66 0.99 0.42 0.71 0.5792 0.8646 0.7533 0.9973 0.4501 0.4450 0.5348 0.6586 0.58 0.83 0.45 0.76 0.5 rs2424922 COSM4134443;COSM4134444 2(thyroid) Benign|Benign Centromeric_instability_of_chromosomes_1\x2c9_and_16_and_immunodeficiency|not_specified RCV000343834.1|RCV000455984.1 MedGen:OMIM:SNOMED_CT|MedGen C0398788:242860:234633000|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5830 0.8670 0.7313 0.5071 0.9977 0.4529 0.4417 0.5181 0.6601 0.5958 0.8515 0.7064 0.4702 0.9957 0.4333 0.4433 0.5102 het 469.56 45 20 31386449 . T C 469.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.499;DP=45;Dels=0.00;FS=9.873;HRun=0;HaplotypeScore=3.7213;MQ=57.65;MQ0=0;MQRankSum=1.132;QD=10.43;ReadPosRankSum=2.252;VQSLOD=3.2898;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,21:45:99:500,0,626 20 31607551 31607551 G C exonic BPIFB2 nonsynonymous SNV BPIFB2:NM_025227:exon11:c.G1075C:p.D359H 0.0094 0.0008 0.0058 . 0.033 0.0092 0.0297 0.0083 0.0093 0 0.0245 0.0442 0.0191 0.0144 0.037 0.012 0.051 0.011 0.049 rs61734341 . . . . . . . . . . . . . 0.014 0.531 D 0.989 0.609 D 0.866 0.598 P 0.015 0.285 N 0.912 0.364 D 2.565 0.752 M 3.12 0.081 T -2.84 0.598 D 0.276 0.334 -1.157 0.008 T 0.009 0.034 T . . . 5.464 0.742 26.1 0.994 0.637 0.691 0.338 D c 0.328 0.251 0.140 0.173 0.487 0.133 0 2.82 0.319 0.236 0.176 1.048 0.713 0.998 0.411 0.996 0.625 7.76 0.279 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c C-terminal . . 0.0276 0.0075 0.0082 0.0194 0 0.0239 0.0470 0.0212 0.0125 0.0291 0.0103 0.0131 0.0265 0 0.0212 0.0468 0.0163 het 376.99 41 20 31607551 . G C 376.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.884;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=0.254;QD=9.19;ReadPosRankSum=-0.200;VQSLOD=6.5559;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,16:41:99:407,0,713 20 31619500 31619500 C T exonic BPIFB6 nonsynonymous SNV BPIFB6:NM_174897:exon1:c.C47T:p.T16M 0.07 0.066 0.073 0.035 0.12 0.055 0.0970 0.0704 0.0624 0.0413 0.0711 0.1242 0.0824 0.0677 0.11 0.069 0.13 0.076 0.11 rs17301126 COSM443647 1(large_intestine) . . . . . . . . . . . 0.121 0.277 T 0.033 0.190 B 0.01 0.139 B 0.615 0.057 N 1 0.090 P 1.935 0.520 L 5.0 0.014 T -0.64 0.187 N 0.065 0.051 -0.948 0.413 T 0.000 0.000 T . . . 0.311 0.124 5.798 0.988 0.455 0.033 0.083 N c -1.112 -1.169 0.000 0.048 0.516 0.203 0 0.681 0.171 0.026 0.134 -1.042 0.020 0.000 0.063 0.000 0.016 7.643 0.273 . . . 0.0952 0.0699 0.0603 0.1648 0.0386 0.0639 0.1246 0.0992 0.0706 0.0900 0.0737 0.0624 0.1457 0.0383 0.0567 0.1136 0.0855 het 603.63 45 20 31619500 . C T 603.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.938;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-0.568;QD=13.41;ReadPosRankSum=-0.869;VQSLOD=6.6560;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,27:45:99:634,0,440 20 31622083 31622083 G A exonic BPIFB6 nonsynonymous SNV BPIFB6:NM_174897:exon3:c.G289A:p.V97I 0.57 0.46 0.53 0.76 0.52 0.6 0.5157 0.4369 0.4778 0.8102 0.4499 0.4880 0.4989 0.5769 0.49 0.45 0.51 0.56 0.42 rs2070317 COSM3758517 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.001 0.402 N 1.000 0.090 P -1.825 0.003 N 3.66 0.043 T 0.7 0.022 N 0.042 0.022 -1.039 0.177 T 0.000 0.000 T . . . 1.680 0.263 14.30 0.213 0.008 0.025 0.069 N c -0.887 -0.583 0.307 0.192 0.487 0.133 0 4.7 0.586 2.970 0.487 0.244 0.267 1.000 0.715 1.000 0.888 7.220 0.250 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c N-terminal . . 0.5178 0.4426 0.4768 0.4718 0.8138 0.4473 0.4972 0.4962 0.5781 0.4907 0.4544 0.4570 0.4305 0.7942 0.4262 0.4992 0.4591 hom 7032.32 219 20 31622083 . G A 7032.32 Mask AC=2;AF=1.00;AN=2;DP=219;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=32.11;VQSLOD=9.8119;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,218:219:99:7031,572,0 20 31624300 31624300 C T exonic BPIFB6 synonymous SNV BPIFB6:NM_174897:exon7:c.C627T:p.S209S 0.071 0.062 0.079 0.035 0.13 0.055 0.1020 0.0672 0.0661 0.0417 0.0761 0.1323 0.0826 0.0696 0.12 0.07 0.14 0.076 0.13 rs17373408 COSM6018977 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1021 0.0686 0.0653 0.1643 0.0390 0.0772 0.1348 0.1056 0.0733 0.0962 0.0730 0.0670 0.1457 0.0401 0.0705 0.1227 0.0900 het 1822.27 210 20 31624300 . C T 1822.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.120;DP=210;DS;Dels=0.00;FS=6.471;HRun=0;HaplotypeScore=9.1122;MQ=58.61;MQ0=0;MQRankSum=-0.354;QD=8.68;ReadPosRankSum=-0.793;VQSLOD=3.0357;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:132,77:210:99:1852,0,3328 20 31627291 31627291 A G exonic BPIFB6 nonsynonymous SNV BPIFB6:NM_174897:exon10:c.A1039G:p.S347G 0.61 0.77 0.48 0.74 0.39 0.55 0.4506 0.7093 0.4301 0.7860 0.3890 0.3618 0.4372 0.5104 0.48 0.69 0.38 0.63 0.3 rs4911287 COSM4001877 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.477 0.122 N 1 0.090 P -0.895 0.014 N 3.27 0.066 T 0.95 0.015 N 0.029 0.010 -1.068 0.098 T 0.000 0.000 T . . . -1.247 0.024 0.005 0.137 0.003 0.002 0.011 N c -1.288 -1.187 0.000 0.029 0.516 0.203 0 2.02 0.255 0.317 0.191 0.138 0.222 0.188 0.239 0.002 0.062 5.958 0.184 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c C-terminal ENSG00000186191.7|ENSG00000186191.7 Adipose_Subcutaneous|Nerve_Tibial 0.4469 0.7203 0.4294 0.3235 0.7950 0.3895 0.3680 0.4105 0.5081 0.4984 0.7174 0.4165 0.3013 0.7799 0.3749 0.3841 0.4029 het 2153.56 179 20 31627291 . A G 2153.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.785;DP=179;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5633;MQ=59.38;MQ0=0;MQRankSum=-0.450;QD=12.03;ReadPosRankSum=-0.887;VQSLOD=5.1129;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,85:179:99:2184,0,2504 20 31652292 31652292 G A exonic BPIFB3 nonsynonymous SNV BPIFB3:NM_182658:exon7:c.G682A:p.V228M 0.49 0.35 0.48 0.76 0.39 0.53 0.4225 0.3278 0.4684 0.8053 0.4406 0.3587 0.4604 0.4982 0.35 0.33 0.37 0.46 0.29 rs4911290 COSM6023128 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.002 0.721 D 0.472 0.347 P 0.181 0.342 B 0.034 0.248 N 0.998 0.224 P 1.7 0.440 L 3.27 0.066 T -2.04 0.468 N 0.194 0.238 -1.117 0.025 T 0.000 0.000 T . . . 2.230 0.329 17.71 0.968 0.307 0.452 0.273 N c -0.450 -0.462 0.004 0.103 0.487 0.133 0 2.63 0.303 1.323 0.331 -1.057 0.020 0.928 0.320 0.226 0.223 13.137 0.587 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c N-terminal ENSG00000186191.7|ENSG00000186191.7|ENSG00000186191.7 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial 0.4272 0.3316 0.4580 0.3102 0.8103 0.4421 0.3618 0.4113 0.4935 0.3995 0.3421 0.4318 0.3013 0.7989 0.4304 0.3827 0.4025 het 1190.60 104 20 31652292 . G A 1190.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.647;DP=104;Dels=0.00;FS=1.650;HRun=0;HaplotypeScore=5.2146;MQ=59.19;MQ0=0;MQRankSum=-1.231;QD=11.45;ReadPosRankSum=1.120;VQSLOD=4.7961;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,49:104:99:1221,0,1331 20 31652596 31652596 C T exonic BPIFB3 nonsynonymous SNV BPIFB3:NM_182658:exon8:c.C869T:p.T290M 0.12 0.21 0.086 0.047 0.13 0.056 0.1153 0.2098 0.0639 0.0505 0.0690 0.1343 0.0909 0.0693 0.17 0.2 0.15 0.17 0.13 rs2093066 . . . . . . . . . . . . . 0.101 0.303 T 0.0 0.026 B 0.0 0.013 B 0.037 0.244 N 1 0.090 P -0.69 0.019 N 3.18 0.075 T 0.01 0.069 N 0.072 0.061 -0.956 0.399 T 0.000 0.000 T . . . 3.516 0.480 23.1 0.957 0.269 0.014 0.047 N c -0.684 -0.541 0.190 0.180 0.487 0.133 0 4.73 0.593 2.033 0.405 0.090 0.195 0.716 0.285 0.691 0.307 7.141 0.246 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c C-terminal . . 0.1125 0.2128 0.0626 0.1682 0.0502 0.0704 0.1375 0.1152 0.0736 0.1381 0.2180 0.0716 0.16 0.0531 0.0618 0.1247 0.0941 het 1524.80 132 20 31652596 . C T 1524.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.649;DP=132;Dels=0.00;FS=1.449;HRun=0;HaplotypeScore=2.8395;MQ=59.54;MQ0=0;MQRankSum=0.123;QD=11.55;ReadPosRankSum=1.641;VQSLOD=6.2583;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,57:132:99:1555,0,1872 20 31656632 31656632 C G exonic BPIFB3 nonsynonymous SNV BPIFB3:NM_182658:exon10:c.C1002G:p.H334Q 0.48 0.31 0.47 0.77 0.38 0.53 0.4197 0.2951 0.4671 0.8134 0.4413 0.3577 0.4525 0.4987 0.34 0.3 0.36 0.42 0.28 rs6057717 COSM443651 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.267 0.162 T 0.155 0.265 B 0.107 0.296 B 0.087 0.024 N 1.000 0.090 P 0.69 0.170 N 3.12 0.081 T 0.8 0.019 N 0.047 0.028 -1.005 0.285 T 0.000 0.000 T . . . 0.885 0.178 9.980 0.770 0.113 0.067 0.126 N c -0.820 -0.808 0.005 0.107 0.487 0.133 0 2.26 0.273 0.105 0.151 -0.005 0.134 0.022 0.197 0.260 0.230 6.123 0.193 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c C-terminal ENSG00000186191.7|ENSG00000186191.7|ENSG00000186191.7 Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial 0.4244 0.2961 0.4558 0.3096 0.8195 0.4420 0.3601 0.4090 0.4918 0.3885 0.3069 0.4246 0.3013 0.8070 0.4304 0.3797 0.3986 het 1098.08 101 20 31656632 . C G 1098.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.334;DP=101;Dels=0.00;FS=2.899;HRun=0;HaplotypeScore=0.8941;MQ=59.82;MQ0=0;MQRankSum=0.306;QD=10.87;ReadPosRankSum=-0.097;VQSLOD=6.3802;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,44:101:99:1128,0,1644 20 31660543 31660543 C T exonic BPIFB3 nonsynonymous SNV BPIFB3:NM_182658:exon14:c.C1345T:p.P449S 0.13 0.28 0.095 0.048 0.13 0.057 0.1209 0.2539 0.0682 0.0510 0.0705 0.1362 0.0903 0.0709 0.18 0.24 0.15 0.2 0.15 rs378098 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.999 0.916 D 0.000 0.537 D 0.003 0.435 P 2.67 0.784 M 2.97 0.095 T -5.69 0.873 D 0.473 0.523 -1.091 0.054 T 0.000 0.000 T . . . 5.301 0.717 25.8 0.999 0.966 0.792 0.389 D c 0.600 0.493 0.335 0.195 0.487 0.133 0 4.64 0.572 3.308 0.514 0.935 0.490 0.996 0.391 0.998 0.697 12.849 0.571 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c C-terminal . . 0.1176 0.2593 0.0670 0.1697 0.0503 0.0735 0.1397 0.1183 0.0750 0.1526 0.2639 0.0776 0.1589 0.0525 0.0635 0.1269 0.1033 het 999.84 93 20 31660543 . C T 999.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.425;DP=93;Dels=0.00;FS=5.354;HRun=2;HaplotypeScore=7.7159;MQ=57.82;MQ0=0;MQRankSum=0.826;QD=10.75;ReadPosRankSum=-0.702;VQSLOD=4.0224;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:53,40:93:99:1030,0,1345 20 31671619 31671619 G T exonic BPIFB4 nonsynonymous SNV BPIFB4:NM_182519:exon3:c.G616T:p.G206W 0.063 0.067 0.053 0.047 0.09 0.055 0.0785 0.0693 0.0411 0.0513 0.0341 0.0974 0.0690 0.0668 0.092 0.07 0.1 0.065 0.098 rs2424943 . . . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 0.999 0.916 D 0.000 0.523 D 0.081 0.366 P 2.125 0.592 M 5.03 0.013 T -1.11 0.287 N 0.239 0.293 -0.975 0.361 T 0.000 0.002 T . . . 6.019 0.828 27.9 0.996 0.758 0.946 0.614 D c 0.478 0.400 0.019 0.131 0.497 0.185 0 3.21 0.358 4.014 0.566 0.933 0.449 0.997 0.399 0.983 0.502 10.050 0.412 Lipid-binding serum glycoprotein\x2c N-terminal . . 0.0785 0.0688 0.0411 0.1383 0.0507 0.0384 0.1003 0.0796 0.0706 0.0754 0.0743 0.0477 0.1291 0.0513 0.0315 0.0901 0.0635 het 544.72 66 20 31671619 . G T 544.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.313;DP=66;Dels=0.00;FS=3.469;HRun=0;HaplotypeScore=3.5088;MQ=60.00;MQ0=0;MQRankSum=-1.322;QD=8.25;ReadPosRankSum=-1.996;VQSLOD=3.7635;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,25:66:99:575,0,1127 20 31671628 31671628 C T exonic BPIFB4 synonymous SNV BPIFB4:NM_182519:exon3:c.C625T:p.L209L 0.064 0.067 0.053 0.047 0.091 0.055 0.0786 0.0697 0.0411 0.0513 0.0342 0.0975 0.0690 0.0669 0.092 0.07 0.1 0.065 0.098 rs2424944 COSM4134456 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0786 0.0688 0.0412 0.1386 0.0507 0.0384 0.1004 0.0796 0.0706 0.0754 0.0746 0.0477 0.1291 0.0514 0.0315 0.0900 0.0630 het 578.41 70 20 31671628 . C T 578.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DP=70;Dels=0.00;FS=4.838;HRun=1;HaplotypeScore=3.5088;MQ=60.00;MQ0=0;MQRankSum=0.845;QD=8.26;ReadPosRankSum=-1.460;VQSLOD=3.9332;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,27:70:99:608,0,1180 20 31671663 31671663 T C exonic BPIFB4 synonymous SNV BPIFB4:NM_182519:exon3:c.T660C:p.T220T 0.38 0.61 0.4 0.2 0.33 0.29 0.3532 0.5818 0.4448 0.1656 0.2610 0.3482 0.3315 0.3074 0.42 0.57 0.34 0.43 0.31 rs2424945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3515 0.5893 0.4348 0.4798 0.1605 0.2591 0.3411 0.3607 0.3096 0.3868 0.5937 0.4270 0.4832 0.1842 0.2683 0.3165 0.3197 het 718.36 66 20 31671663 . T C 718.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.236;DP=66;Dels=0.00;FS=4.932;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.105;QD=10.88;ReadPosRankSum=0.655;VQSLOD=5.6164;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:748,0,934 20 31673846 31673846 A G exonic BPIFB4 nonsynonymous SNV BPIFB4:NM_182519:exon5:c.A802G:p.I268V 0.47 0.27 0.46 0.76 0.38 0.52 0.4094 0.2683 0.4488 0.7966 0.4321 0.3536 0.4150 0.4836 0.33 0.27 0.36 0.45 0.21 rs2070325 COSM3758518;COSM5829007 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.023 0.481 D 0.677 0.394 P 0.42 0.433 B 0.001 0.406 N 0.457 0.320 P 1.61 0.413 L 3.29 0.065 T -0.86 0.234 N 0.245 0.299 -1.175 0.004 T 0.000 0.000 T . . . 2.444 0.355 19.11 0.998 0.871 0.663 0.327 D c 0.148 0.182 0.004 0.105 0.554 0.283 0 3.94 0.446 2.818 0.475 1.140 0.893 1.000 0.715 0.997 0.653 9.115 0.357 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c N-terminal . . 0.4132 0.2659 0.4391 0.2624 0.8021 0.4330 0.3576 0.3942 0.4793 0.3743 0.2697 0.4139 0.2667 0.7830 0.4181 0.3794 0.3971 het 2352.61 215 20 31673846 . A G 2352.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.214;DP=215;DS;Dels=0.00;FS=6.088;HRun=0;HaplotypeScore=5.2903;MQ=59.59;MQ0=0;MQRankSum=0.363;QD=10.94;ReadPosRankSum=-1.075;VQSLOD=4.6463;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:124,91:215:99:2383,0,3361 20 31676804 31676804 A C exonic BPIFB4 nonsynonymous SNV BPIFB4:NM_182519:exon6:c.A959C:p.N320T 0.55 0.57 0.5 0.75 0.39 0.52 0.4388 0.5323 0.4671 0.7952 0.4351 0.3619 0.4350 0.4862 0.42 0.52 0.37 0.6 0.3 rs2889732 COSM4001878 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.142 0.254 T 0.979 0.571 D 0.675 0.514 P 0.003 0.359 N 0.437 0.322 P 1.385 0.346 L 3.53 0.049 T -2.37 0.522 N 0.182 0.222 -1.248 0.000 T 0.000 0.000 T . . . 3.870 0.522 23.5 0.996 0.748 0.683 0.335 D c 0.243 0.307 0.813 0.244 0.497 0.185 0 5.01 0.663 3.437 0.524 1.140 0.893 0.993 0.376 1.000 0.888 11.107 0.472 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c N-terminal . . 0.4381 0.5389 0.4574 0.2677 0.8005 0.4361 0.3670 0.4130 0.4821 0.4583 0.5447 0.4296 0.2715 0.7832 0.4212 0.3898 0.4160 het 2490.82 238 20 31676804 . A C 2490.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.279;DP=238;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9973;MQ=59.69;MQ0=0;MQRankSum=0.196;QD=10.47;ReadPosRankSum=0.022;VQSLOD=6.8447;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,98:238:99:2521,0,3515 20 31688241 31688241 T C exonic BPIFB4 nonsynonymous SNV BPIFB4:NM_182519:exon12:c.T1579C:p.F527L 0.52 0.68 0.53 0.25 0.61 0.48 0.5666 0.6751 0.5384 0.2066 0.5334 0.6212 0.5672 0.4994 0.64 0.68 0.61 0.51 0.7 rs11699009 COSM1685483;COSM5428503 2(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 1.000 0.199 P -1.82 0.003 N 3.2 0.073 T 2.76 0.002 N 0.103 0.107 -0.988 0.331 T 0.000 0.000 T . . . 0.900 0.180 10.08 0.276 0.014 0.020 0.059 N c -0.951 -0.676 0.028 0.138 0.487 0.133 0 5.77 0.910 0.784 0.263 0.069 0.176 0.560 0.272 0.143 0.203 11.036 0.468 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c C-terminal . . 0.5640 0.6740 0.5518 0.7439 0.1987 0.5288 0.6159 0.5826 0.5037 0.5868 0.6629 0.5716 0.7384 0.2160 0.5473 0.5905 0.5716 het 2166.69 203 20 31688241 . T C 2166.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.178;DP=203;Dels=0.00;FS=1.745;HRun=0;HaplotypeScore=6.7887;MQ=59.36;MQ0=0;MQRankSum=1.851;QD=10.67;ReadPosRankSum=0.282;VQSLOD=4.4865;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,88:203:99:2197,0,3009 20 31688260 31688260 C T exonic BPIFB4 nonsynonymous SNV BPIFB4:NM_182519:exon12:c.C1598T:p.T533I 0.47 0.52 0.52 0.25 0.6 0.47 0.5539 0.5383 0.5327 0.2064 0.5330 0.6207 0.5573 0.4988 0.59 0.55 0.61 0.47 0.67 rs11696307 COSM4418049 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.175 0.224 T 0.0 0.026 B 0.0 0.013 B 0.000 0.441 N 1.000 0.090 P 0 0.065 N 3.3 0.064 T 2.17 0.003 N 0.105 0.111 -1.034 0.190 T 0.000 0.000 T . . . 1.239 0.214 11.95 0.917 0.205 0.018 0.055 N c -0.869 -0.682 0.001 0.080 0.487 0.133 0 4.67 0.579 1.931 0.395 -0.201 0.102 1.000 0.715 0.009 0.108 10.320 0.427 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c C-terminal . . 0.5537 0.5328 0.5446 0.7439 0.1988 0.5284 0.6152 0.5770 0.5030 0.5478 0.5270 0.5586 0.7384 0.2160 0.5475 0.5905 0.5591 het 2361.24 203 20 31688260 . C T 2361.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.853;DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7396;MQ=59.45;MQ0=0;MQRankSum=-3.316;QD=11.63;ReadPosRankSum=0.197;VQSLOD=3.6704;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:106,97:203:99:2391,0,3001 20 31812923 31812923 G A exonic BPIFA3 nonsynonymous SNV BPIFA3:NM_001042439:exon3:c.G298A:p.V100I,BPIFA3:NM_178466:exon4:c.G406A:p.V136I 0.66 0.79 0.43 0.81 0.52 0.66 0.5585 0.7475 0.3515 0.8144 0.5247 0.5129 0.5650 0.6478 0.58 0.73 0.51 0.7 0.48 rs3818222 COSM3758519 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.845 0.028 T 0.0 0.026 B 0.0 0.040 B 0.622 0.058 N 1 0.090 P -0.17 0.043 N 3.55 0.048 T 0.24 0.045 N 0.021 0.005 -0.999 0.302 T 0.000 0.000 T . . . -1.106 0.028 0.010 0.236 0.010 0.002 0.012 N c -1.885 -1.926 0.011 0.121 0.487 0.133 0 -5.46 0.024 -1.673 0.020 -0.715 0.037 0.000 0.063 0.000 0.016 4.461 0.110 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c N-terminal ENSG00000224876.1 Testis 0.5462 0.7507 0.3560 0.4633 0.8094 0.5260 0.5205 0.5148 0.6441 0.5981 0.7438 0.3738 0.4669 0.8055 0.4963 0.5345 0.5278 het 2216 175 20 31812923 . G A 2216 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.886;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4552;MQ=59.33;MQ0=0;MQRankSum=0.089;QD=12.66;ReadPosRankSum=0.815;VQSLOD=6.3787;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:91,84:175:99:2246,0,2217 20 31897554 31897554 G C exonic BPIFB1 nonsynonymous SNV BPIFB1:NM_033197:exon16:c.G1436C:p.S479T 0.68 0.8 0.58 0.77 0.5 0.66 0.5652 0.7416 0.6324 0.7848 0.5434 0.4890 0.5496 0.6093 0.57 0.73 0.48 0.66 0.58 rs1999663 . . . . . . . . . . . . . 0.774 0.033 T 0.001 0.067 B 0.001 0.040 B 0.008 0.012 N 1 0.090 P 0 0.065 N 3.92 0.035 T -0.13 0.090 N 0.011 0.001 -0.947 0.416 T 0.000 0.000 T . . . -1.890 0.009 0.002 0.437 0.033 0.028 0.074 N c -1.744 -1.786 0.058 0.151 0.497 0.185 0 -1.88 0.073 0.356 0.198 -0.781 0.033 0.001 0.137 0.003 0.074 7.385 0.259 . . . 0.5645 0.7444 0.6328 0.5998 0.7868 0.5328 0.4779 0.5461 0.6055 0.5798 0.7357 0.6163 0.6060 0.7830 0.5372 0.4771 0.5378 het 1022.42 86 20 31897554 . G C 1022.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.916;DP=86;Dels=0.00;FS=0.816;HRun=1;HaplotypeScore=0.0000;MQ=59.78;MQ0=0;MQRankSum=0.160;QD=11.89;ReadPosRankSum=-1.171;VQSLOD=6.0436;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,42:86:99:1052,0,1075 20 31981849 31981849 T C exonic CDK5RAP1 synonymous SNV CDK5RAP1:NM_001278167:exon4:c.A432G:p.T144T,CDK5RAP1:NM_001278168:exon4:c.A432G:p.T144T,CDK5RAP1:NM_001278169:exon4:c.A351G:p.T117T,CDK5RAP1:NM_016082:exon4:c.A435G:p.T145T,CDK5RAP1:NM_016408:exon4:c.A432G:p.T144T 0.6 0.49 0.58 0.57 0.66 0.71 0.6479 0.5222 0.5300 0.5756 0.6097 0.6900 0.6544 0.6917 0.63 0.53 0.69 0.66 0.79 rs291700 COSM3758522 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6444 0.5236 0.5358 0.6989 0.5785 0.6093 0.6930 0.6592 0.6888 0.6219 0.5343 0.5322 0.6954 0.5796 0.5955 0.6857 0.6418 het 1752.39 165 20 31981849 . T C 1752.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.220;DP=165;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=1.9790;MQ=58.54;MQ0=0;MQRankSum=1.097;QD=10.62;ReadPosRankSum=-0.833;VQSLOD=6.1723;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,80:165:99:1782,0,2265 20 32212690 32212690 C T exonic CBFA2T2 synonymous SNV CBFA2T2:NM_001032999:exon6:c.C813T:p.P271P,CBFA2T2:NM_001039709:exon6:c.C753T:p.P251P,CBFA2T2:NM_005093:exon7:c.C840T:p.P280P 0.67 0.86 0.57 0.75 0.49 0.58 0.5461 0.7976 0.6121 0.7780 0.5030 0.4706 0.5143 0.5442 0.58 0.78 0.48 0.71 0.41 rs3803939 COSM3758525;COSM1130653 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5447 0.8045 0.6071 0.4772 0.7815 0.5056 0.4689 0.5230 0.5435 0.5883 0.7921 0.5887 0.5166 0.7916 0.5198 0.4698 0.5184 het 1254.56 100 20 32212690 . C T 1254.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.223;DP=100;Dels=0.00;FS=3.842;HRun=0;HaplotypeScore=2.5220;MQ=59.72;MQ0=0;MQRankSum=-1.333;QD=12.55;ReadPosRankSum=-1.074;VQSLOD=5.5042;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,49:100:99:1285,0,1388 20 32248163 32248163 C T exonic NECAB3 synonymous SNV NECAB3:NM_031231:exon6:c.G426A:p.T142T,NECAB3:NM_031232:exon6:c.G426A:p.T142T 0.3 0.28 0.21 0.39 0.32 0.26 0.2895 0.2708 0.1907 0.3855 0.3742 0.2913 0.2935 0.2788 0.29 0.27 0.3 0.26 0.2 rs3746460 COSM3758526 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2871 0.2621 0.1948 0.2800 0.3841 0.3733 0.2885 0.2914 0.2799 0.3027 0.2672 0.2213 0.2914 0.3955 0.3868 0.2975 0.3166 het 1213.72 100 20 32248163 . C T 1213.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.514;DP=100;Dels=0.00;FS=0.761;HRun=0;HaplotypeScore=4.3606;MQ=59.56;MQ0=0;MQRankSum=-1.632;QD=12.14;ReadPosRankSum=-0.990;VQSLOD=4.9482;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,48:100:99:1244,0,1388 20 32295541 32295541 C T exonic PXMP4 nonsynonymous SNV PXMP4:NM_007238:exon4:c.G610A:p.V204I 0.63 0.68 0.54 0.78 0.48 0.59 0.5319 0.6364 0.5998 0.7840 0.5020 0.4688 0.5011 0.5551 0.53 0.63 0.48 0.65 0.37 rs910397 COSM3758528 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.003 0.355 N 0.998 0.810 P -1.43 0.006 N 1.01 0.411 T 0.34 0.038 N 0.032 0.012 -0.991 0.325 T 0.000 0.000 T . . . -0.327 0.066 0.577 0.446 0.034 0.287 0.234 N c -1.385 -1.206 0.131 0.171 0.706 0.609 0 -2.5 0.060 0.197 0.169 -0.994 0.022 0.983 0.354 0.904 0.383 6.694 0.222 . ENSG00000078699.17|ENSG00000078699.17|ENSG00000101412.9|ENSG00000101412.9|ENSG00000101440.5 Artery_Aorta|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Skin_Sun_Exposed_Lower_leg 0.5335 0.6360 0.5968 0.4863 0.7929 0.5052 0.4654 0.5212 0.5530 0.5448 0.6412 0.5859 0.53 0.8106 0.5195 0.4657 0.5184 het 2522.66 158 20 32295541 . C T 2522.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.450;DP=158;Dels=0.00;FS=3.998;HRun=0;HaplotypeScore=5.5661;MQ=59.71;MQ0=0;MQRankSum=-2.136;QD=15.97;ReadPosRankSum=-1.464;VQSLOD=3.1855;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,91:158:99:2553,0,1604 20 32379263 32379263 T C exonic ZNF341 synonymous SNV ZNF341:NM_001282935:exon14:c.T2235C:p.A745A,ZNF341:NM_001282933:exon15:c.T2505C:p.A835A,ZNF341:NM_032819:exon15:c.T2484C:p.A828A 0.81 0.97 0.75 0.94 0.63 0.71 0.7239 0.9227 0.7696 0.9289 0.7012 0.6638 0.7176 0.7111 0.73 0.91 0.65 0.86 0.7 rs2626551 COSM1565833;COSM5829017 1(liver);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7178 0.9251 0.7723 0.7308 0.9315 0.6982 0.6449 0.7076 0.7072 0.7428 0.9209 0.7446 0.7914 0.9162 0.7142 0.6283 0.7035 het 431.40 44 20 32379263 . T C 431.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.487;DP=44;Dels=0.00;FS=2.883;HRun=1;HaplotypeScore=1.8932;MQ=59.58;MQ0=0;MQRankSum=0.577;QD=9.80;ReadPosRankSum=-0.412;VQSLOD=5.7773;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,20:44:99:461,0,682 20 33337751 33337751 T C exonic NCOA6 synonymous SNV NCOA6:NM_001242539:exon7:c.A2247G:p.P749P,NCOA6:NM_014071:exon9:c.A2247G:p.P749P,NCOA6:NM_001318240:exon10:c.A2247G:p.P749P 0.8 0.84 0.94 0.78 0.87 0.62 0.8285 0.8361 0.9408 0.7616 0.8862 0.8484 0.8502 0.6753 0.84 0.83 0.84 0.77 0.82 rs3787220 COSM3758531 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8339 0.8393 0.9381 0.8789 0.7575 0.8771 0.8410 0.8623 0.6838 0.8501 0.8439 0.9284 0.8808 0.7726 0.8875 0.8482 0.8520 het 2617.91 158 20 33337751 . T C 2617.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.908;DP=158;Dels=0.00;FS=4.593;HRun=0;HaplotypeScore=2.7972;MQ=59.47;MQ0=0;MQRankSum=0.821;QD=16.57;ReadPosRankSum=0.187;VQSLOD=5.7191;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,93:158:99:2648,0,1823 20 33451148 33451148 G A exonic GGT7 synonymous SNV GGT7:NM_001351702:exon2:c.C373T:p.L125L,GGT7:NM_178026:exon2:c.C373T:p.L125L 0.14 0.14 0.053 0.11 0.11 0.27 0.1393 0.1470 0.0490 0.1053 0.1179 0.1331 0.1221 0.2484 0.14 0.14 0.14 0.12 0.15 rs11546155 COSM443690 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1309 0.1353 0.0502 0.0943 0.1031 0.1141 0.1369 0.1148 0.2375 0.1248 0.1350 0.0585 0.0894 0.1051 0.1059 0.1306 0.1127 het 346.40 36 20 33451148 . G A 346.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.881;DP=36;Dels=0.00;FS=5.447;HRun=1;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=0.684;QD=9.62;ReadPosRankSum=0.016;VQSLOD=5.7770;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,16:36:99:376,0,588 20 33470694 33470694 C T exonic ACSS2 synonymous SNV ACSS2:NM_001076552:exon2:c.C276T:p.F92F,ACSS2:NM_018677:exon2:c.C276T:p.F92F 0.51 0.43 0.35 0.44 0.57 0.76 0.5762 0.4543 0.2630 0.4750 0.6039 0.6180 0.5859 0.7453 0.57 0.47 0.62 0.54 0.58 rs4911163 COSM5425555;COSM5425553;COSM5425554 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5664 0.4483 0.2798 0.6316 0.4812 0.6092 0.6199 0.5676 0.7388 0.5473 0.4348 0.3082 0.5861 0.4739 0.5916 0.6191 0.6055 hom 3426.06 112 20 33470694 . C T 3426.06 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.79;MQ0=0;QD=30.59;VQSLOD=8.9352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3426,265,0 20 33565480 33565480 C T exonic MYH7B synonymous SNV MYH7B:NM_020884:exon4:c.C51T:p.A17A 0.27 0.34 0.15 0.22 0.24 0.33 0.3132 0.3659 0.2233 0.2741 0.2893 0.3201 0.2288 0.3049 0.28 0.32 0.27 0.29 0.25 rs6060137 COSM4134470 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2378 0.3223 0.1221 0.2014 0.2337 0.2099 0.2624 0.2084 0.2844 0.3057 0.3697 0.1709 0.2210 0.2431 0.2267 0.3058 0.2709 hom 355.64 12 20 33565480 . C T 355.64 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;QD=29.64;VQSLOD=8.4258;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:389,30,0 20 33583331 33583331 A G exonic MYH7B nonsynonymous SNV MYH7B:NM_020884:exon28:c.A3019G:p.K1007E 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.98 rs2425015 COSM4590270 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 2180.79 68 20 33583331 . A G 2180.79 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7406;MQ=58.20;MQ0=0;QD=32.07;VQSLOD=8.0664;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2214,181,0 20 33872215 33872215 C A exonic EIF6 nonsynonymous SNV EIF6:NM_181468:exon1:c.G76T:p.V26L,EIF6:NM_001267810:exon2:c.G76T:p.V26L,EIF6:NM_002212:exon2:c.G76T:p.V26L,EIF6:NM_181466:exon2:c.G76T:p.V26L 0.0036 0.0008 0.0029 . 0.015 . 0.0070 0.0030 0.0045 0 0.0047 0.0108 0.0034 0.0004 0.011 0.0037 0.015 0.011 0.016 rs1802241 . . . . . . . . . . . . . 0.078 0.351 T 0.497 0.352 P 0.134 0.315 B 0.000 0.843 D 1.000 0.516 D 2.63 0.772 M . . . -2.01 0.506 N 0.313 0.522 -0.815 0.543 T 0.106 0.387 T . . . 3.199 0.444 22.7 0.997 0.781 0.916 0.535 D c 0.082 0.147 1.000 0.747 0.733 0.969 0 3.95 0.448 5.272 0.651 0.935 0.490 1.000 0.715 0.998 0.697 12.450 0.548 . . . 0.0069 0.0028 0.0044 0.0007 0 0.0051 0.0121 0.0081 0.0003 0.0082 0.0031 0.0036 0.0033 0 0.0043 0.0135 0.0061 het 3180.34 250 20 33872215 . C A 3180.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.608;DP=250;DS;Dels=0.00;FS=1.011;HRun=1;HaplotypeScore=9.0385;MQ=59.27;MQ0=0;MQRankSum=0.416;QD=12.72;ReadPosRankSum=0.566;VQSLOD=4.3459;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3210,0,3647 20 33874720 33874720 C T exonic FAM83C nonsynonymous SNV FAM83C:NM_178468:exon4:c.G1862A:p.R621Q 0.38 0.75 0.17 0.22 0.2 0.36 0.2717 0.6531 0.1286 0.2316 0.2376 0.2239 0.2638 0.3601 0.36 0.63 0.22 0.41 0.24 rs2425049 COSM4134476 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.544 0.115 N 1 0.090 P -2.28 0.001 N 3.42 0.055 T 0.3 0.041 N 0.053 0.035 -1.069 0.096 T 0.000 0.000 T . . . 0.186 0.112 4.529 0.530 0.048 0.004 0.022 N c -1.348 -1.237 1.000 0.489 0.487 0.133 0 2.85 0.322 0.036 0.136 -0.283 0.084 0.000 0.063 0.003 0.074 5.202 0.145 . ENSG00000126005.11|ENSG00000125966.8|ENSG00000126005.11|ENSG00000125966.8|ENSG00000126005.11|ENSG00000125966.8|ENSG00000126005.11|ENSG00000126005.11|ENSG00000126005.11|ENSG00000126005.11|ENSG00000126005.11|ENSG00000126005.11|ENSG00000126005.11|ENSG00000126005.11|ENSG00000126005.11|ENSG00000125998.7|ENSG00000125966.8|ENSG00000126005.11|ENSG00000126005.11|ENSG00000125966.8|ENSG00000126005.11|ENSG00000125965.4|ENSG00000261582.1|ENSG00000125966.8|ENSG00000242372.2|ENSG00000126005.11|ENSG00000126005.11|ENSG00000126005.11|ENSG00000261582.1|ENSG00000125966.8|ENSG00000242372.2|ENSG00000126005.11|ENSG00000126005.11|ENSG00000126005.11|ENSG00000125966.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2538 0.6626 0.1264 0.2349 0.2241 0.2241 0.2205 0.2392 0.3571 0.3366 0.6448 0.1468 0.1954 0.2281 0.2262 0.2155 0.2316 het 1632.26 103 20 33874720 . C T 1632.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.233;DP=103;Dels=0.00;FS=3.798;HRun=0;HaplotypeScore=5.3450;MQ=59.53;MQ0=0;MQRankSum=1.142;QD=15.85;ReadPosRankSum=-0.781;VQSLOD=4.7043;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,55:103:99:1662,0,1111 20 33971914 33971914 C T exonic UQCC1 nonsynonymous SNV UQCC1:NM_018244:exon3:c.G152A:p.R51Q,UQCC1:NM_199487:exon3:c.G152A:p.R51Q 0.53 0.31 0.71 0.71 0.62 0.41 0.5770 0.3564 0.7510 0.7076 0.5692 0.5994 0.5672 0.4391 0.53 0.37 0.61 0.47 0.56 rs4911494 . . . . . . . . . . . . . 0.425 0.115 T 0.006 0.174 B 0.004 0.093 B 0.107 0.026 N 1 0.189 P -0.6 0.022 N 1.57 0.334 T -0.84 0.266 N 0.022 0.250 -0.976 0.360 T 0.000 0.000 T . . . -0.523 0.054 0.192 0.622 0.067 0.010 0.037 N c -1.938 -1.986 0.804 0.242 0.707 0.730 0 -9.24 0.006 -0.150 0.101 -2.750 0.002 0.000 0.063 0.000 0.016 1.846 0.029 . ENSG00000101019.17|ENSG00000224497.1|ENSG00000101019.17|ENSG00000101019.17|ENSG00000126001.11|ENSG00000268340.1|ENSG00000125991.14|ENSG00000088298.8|ENSG00000101019.17|ENSG00000224497.1|ENSG00000125998.7|ENSG00000101019.17|ENSG00000125965.4|ENSG00000101019.17|ENSG00000126001.11|ENSG00000101019.17|ENSG00000101019.17|ENSG00000224497.1|ENSG00000101019.17|ENSG00000125998.7|ENSG00000268340.1|ENSG00000101019.17|ENSG00000224497.1|ENSG00000101019.17|ENSG00000268340.1|ENSG00000224497.1|ENSG00000101019.17 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Hippocampus|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.5885 0.3533 0.7411 0.5473 0.7140 0.5710 0.6039 0.5865 0.4390 0.5448 0.3724 0.7338 0.57 0.7159 0.5756 0.6078 0.5519 het 761.20 80 20 33971914 . C T 761.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.344;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6040;MQ=58.29;MQ0=0;MQRankSum=0.133;QD=9.51;ReadPosRankSum=-0.722;VQSLOD=5.7168;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,32:80:99:791,0,1173 20 34022387 34022387 A C exonic GDF5;GDF5OS nonsynonymous SNV GDF5:NM_000557:exon2:c.T826G:p.S276A,GDF5:NM_001319138:exon4:c.T826G:p.S276A 0.38 0.47 0.26 0.29 0.35 0.49 0.3701 0.4588 0.2331 0.2941 0.4009 0.3677 0.3825 0.4612 0.37 0.41 0.35 0.4 0.15 rs224331 COSM1483571;COSM1483572;COSM443713 3(large_intestine) Benign|Benign|Benign|Benign|Benign|Benign not_specified|Fibular_hypoplasia_and_complex_brachydactyly|Acromesomelic_Dysplasia|Symphalangism-brachydactyly_syndrome|Chondrodysplasia|Brachydactyly RCV000250612.1|RCV000267524.1|RCV000272161.1|RCV000320272.1|RCV000359780.1|RCV000360890.1 MedGen:Orphanet:SNOMED_CT C0221357:ORPHA294937:43476002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3529 0.4535 0.2245 0.4066 0.2778 0.3917 0.3535 0.3553 0.4454 0.3832 0.4402 0.2410 0.4223 0.2817 0.4017 0.3626 0.4049 het 360.14 33 20 34022387 . A C 360.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.674;DP=33;Dels=0.00;FS=1.508;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=-1.330;QD=10.91;ReadPosRankSum=-1.111;VQSLOD=5.8009;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,14:33:99:390,0,532 20 35422936 35422936 G T exonic SOGA1 synonymous SNV SOGA1:NM_080627:exon14:c.C3549A:p.G1183G,SOGA1:NM_199181:exon14:c.C2835A:p.G945G 0.042 0.011 0.081 . 0.13 0.014 0.0742 0.0218 0.0528 0 0.0768 0.1055 0.0859 0.0305 0.082 0.02 0.11 0.033 . rs35707272 COSM4134493;COSM4134495;COSM4134492;COSM4134494 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0743 0.0200 0.0559 0.1801 0 0.0730 0.1007 0.0993 0.0311 0.0670 0.0213 0.0716 0.1490 0.0012 0.0736 0.0960 0.0879 het 2324.80 182 20 35422936 . G T 2324.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.808;DP=182;Dels=0.00;FS=1.203;HRun=0;HaplotypeScore=6.1968;MQ=59.54;MQ0=0;MQRankSum=-0.214;QD=12.77;ReadPosRankSum=1.016;VQSLOD=4.5411;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,84:182:99:2355,0,2358 20 35509130 35509130 T G exonic TLDC2 nonsynonymous SNV TLDC2:NM_080628:exon4:c.T415G:p.F139V 0.0084 0.0008 0.0043 . 0.017 0.021 0.0188 0.0039 0.0045 0.0002 0.0336 0.0238 0.0110 0.0217 0.017 0.005 0.023 0.011 . rs41305821 . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.993 0.797 D 0.000 0.843 D 1.000 0.498 D 3.345 0.912 M 0.18 0.604 T -6.58 0.919 D 0.342 0.403 -0.119 0.797 T 0.296 0.668 T . . . 6.113 0.843 28.3 0.991 0.524 0.960 0.670 D c 0.786 0.698 1.000 0.403 0.497 0.185 0 4.9 0.635 5.967 0.699 0.961 0.567 1.000 0.715 1.000 0.888 12.045 0.526 TLDc domain . . 0.0175 0.0037 0.0052 0.0116 0.0002 0.0307 0.0225 0.0157 0.0220 0.0139 0.0026 0.0060 0.0132 0 0.0260 0.0191 0.0204 het 1822.86 142 20 35509130 . T G 1822.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.281;DP=142;Dels=0.00;FS=0.628;HRun=0;HaplotypeScore=3.7415;MQ=58.96;MQ0=0;MQRankSum=0.126;QD=12.84;ReadPosRankSum=0.379;VQSLOD=6.0379;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,79:142:99:1853,0,1643 20 35731181 35731181 G C exonic MROH8 unknown UNKNOWN 0.011 . 0.011 . 0.031 0.014 0.0222 0.0058 0.0136 0 0.0265 0.0309 0.0312 0.0124 0.023 0.0047 0.032 . . rs117314541 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0227 0.0058 0.0155 0.0586 0 0.0220 0.0303 0.0316 0.0120 0.0204 0.0055 0.0179 0.0464 0.0006 0.0240 0.0299 0.0234 het 4170.12 250 20 35731181 . G C 4170.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.164;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9875;MQ=59.14;MQ0=0;MQRankSum=-1.110;QD=16.68;ReadPosRankSum=0.447;VQSLOD=3.2941;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,123:250:99:3522,0,3400 20 35749423 35749423 T C exonic MROH8 unknown UNKNOWN 0.012 0.0053 0.011 . 0.031 0.015 0.0246 0.0124 0.0159 0 0.0281 0.0332 0.0323 0.0134 0.025 0.011 0.032 . . rs113747754 . . . . . . . . . . . . . 0.528 0.071 T 0.894 0.472 P 0.437 0.438 B 0.011 0.298 N 0.960 0.261 N . . . 1.02 0.407 T -0.97 0.258 N 0.285 0.422 -1.044 0.160 T 0.049 0.207 T . . . 2.578 0.371 19.97 0.997 0.838 0.632 0.317 D c 0.243 0.321 0.111 0.167 0.554 0.246 0 4.68 0.582 1.293 0.327 1.054 0.756 1.000 0.715 0.992 0.562 8.582 0.326 . . . 0.0234 0.0121 0.0157 0.0584 0 0.0223 0.0308 0.0318 0.0119 0.0226 0.0112 0.0179 0.0464 0.0006 0.0246 0.0309 0.0236 het 384.74 40 20 35749423 . T C 384.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.835;DP=40;Dels=0.00;FS=7.525;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.269;QD=9.62;ReadPosRankSum=0.525;VQSLOD=4.3226;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,14:40:99:415,0,647 20 35769592 35769592 T C exonic MROH8 unknown UNKNOWN 0.77 0.97 0.76 0.51 0.8 0.74 0.7709 0.9422 0.7044 0.5061 0.6827 0.8053 0.7905 0.7449 0.86 0.93 0.82 0.81 . rs1744769 COSM5426224 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7629 0.9453 0.7124 0.8412 0.5 0.6831 0.8074 0.7975 0.7389 0.8143 0.9429 0.7267 0.8510 0.4807 0.6868 0.8112 0.7847 het 451.33 38 20 35769592 . T C 451.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.178;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=58.85;MQ0=0;MQRankSum=-1.184;QD=11.88;ReadPosRankSum=-0.190;VQSLOD=6.1027;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,20:38:99:481,0,495 20 35865054 35865054 C T exonic RPN2 synonymous SNV RPN2:NM_001324306:exon14:c.C1354T:p.L452L,RPN2:NM_001135771:exon15:c.C1729T:p.L577L,RPN2:NM_001324299:exon15:c.C1729T:p.L577L,RPN2:NM_001324302:exon15:c.C1729T:p.L577L,RPN2:NM_001324303:exon16:c.C1825T:p.L609L,RPN2:NM_001324304:exon16:c.C1825T:p.L609L,RPN2:NM_002951:exon16:c.C1825T:p.L609L,RPN2:NM_001324301:exon17:c.C1873T:p.L625L,RPN2:NM_001324305:exon17:c.C1873T:p.L625L 0.69 0.75 0.71 0.47 0.8 0.73 0.7450 0.7772 0.6635 0.4697 0.6602 0.7999 0.7764 0.7358 0.8 0.78 0.82 0.74 0.84 rs4608 COSM4134509 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7405 0.7760 0.6732 0.8407 0.4736 0.6634 0.8033 0.7832 0.7341 0.7615 0.7786 0.6974 0.8510 0.4641 0.6684 0.8068 0.7653 het 1465.72 107 20 35865054 . C T 1465.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.698;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8519;MQ=58.86;MQ0=0;MQRankSum=2.477;QD=13.70;ReadPosRankSum=1.031;VQSLOD=5.4908;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,54:107:99:1496,0,1469 20 36030939 36030939 G C exonic SRC synonymous SNV SRC:NM_005417:exon12:c.G1218C:p.A406A,SRC:NM_198291:exon12:c.G1218C:p.A406A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs1885257 COSM4594952 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 0.9999 1 1 1 1 1 1 1 1 hom 2161.32 78 20 36030939 . G C 2161.32 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1496;MQ=60.00;MQ0=0;QD=27.71;VQSLOD=6.3309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2194,181,0 20 36770588 36770588 C T exonic TGM2 synonymous SNV TGM2:NM_001323317:exon6:c.G630A:p.L210L,TGM2:NM_001323318:exon6:c.G693A:p.L231L,TGM2:NM_004613:exon7:c.G873A:p.L291L,TGM2:NM_198951:exon7:c.G873A:p.L291L,TGM2:NM_001323316:exon8:c.G873A:p.L291L 0.2 0.21 0.12 0.27 0.14 0.24 0.1620 0.1954 0.0760 0.2935 0.1825 0.1379 0.1542 0.2219 0.16 0.19 0.14 0.26 0.11 rs2076390 COSM3758556 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1606 0.1932 0.0886 0.1399 0.2956 0.1855 0.1377 0.1537 0.2201 0.1656 0.2016 0.0921 0.1623 0.2876 0.1747 0.1330 0.1745 het 1988.58 141 20 36770588 . C T 1988.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.260;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2363;MQ=59.15;MQ0=0;MQRankSum=-1.244;QD=14.10;ReadPosRankSum=0.097;VQSLOD=4.5624;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:68,73:141:99:2019,0,1945 20 36841756 36841756 T C exonic KIAA1755 synonymous SNV KIAA1755:NM_001348708:exon12:c.A2244G:p.S748S,KIAA1755:NM_001029864:exon14:c.A3291G:p.S1097S 0.39 0.24 0.44 0.52 0.43 0.38 0.4776 0.2875 0.5474 0.5236 0.4930 0.4995 0.5208 0.4280 0.39 0.27 0.46 0.37 0.48 rs1534967 COSM149170 1(stomach);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4546 0.2625 0.5072 0.4009 0.5068 0.4498 0.4737 0.4560 0.4134 0.4140 0.2633 0.4617 0.3874 0.5390 0.4449 0.4763 0.4582 het 123.44 28 20 36841756 . T C 123.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.167;DP=28;Dels=0.00;FS=1.685;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=-1.220;QD=4.41;ReadPosRankSum=0.743;VQSLOD=3.6587;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,7:28:99:153,0,600 20 36841914 36841914 G A exonic KIAA1755 nonsynonymous SNV KIAA1755:NM_001348708:exon12:c.C2086T:p.R696W,KIAA1755:NM_001029864:exon14:c.C3133T:p.R1045W 0.33 0.12 0.41 0.45 0.42 0.33 0.4604 0.1941 0.5468 0.4569 0.4990 0.5006 0.4776 0.3765 0.35 0.17 0.45 0.33 0.51 rs3746471 COSM3758557 2(large_intestine) . . . . . . . . . . . 0.059 0.375 T 0.003 0.102 B 0.001 0.040 B 0.341 0.140 N 0.986 0.246 P 0 0.065 N 3.24 0.069 T -4.2 0.757 D 0.053 0.035 -0.938 0.430 T 0.000 0.000 T . . . 2.905 0.410 21.9 0.985 0.413 0.461 0.274 N c -0.378 -0.258 1.000 0.517 0.554 0.283 0 3.3 0.368 2.106 0.412 1.048 0.713 0.986 0.359 0.849 0.354 8.563 0.325 . . . 0.4266 0.1611 0.4922 0.3454 0.4241 0.4346 0.4699 0.4237 0.3501 0.3727 0.1618 0.4368 0.3377 0.4407 0.4301 0.4684 0.4262 het 405.40 29 20 36841914 . G A 405.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.469;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.022;QD=13.98;ReadPosRankSum=-1.294;VQSLOD=10.8905;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,16:29:99:435,0,347 20 36842049 36842049 G A exonic KIAA1755 nonsynonymous SNV KIAA1755:NM_001348708:exon12:c.C1951T:p.R651C,KIAA1755:NM_001029864:exon14:c.C2998T:p.R1000C 0.0014 . . . 0.001 0.0061 0.0006 0.0001 0 0 0.0002 1.954e-05 0 0.0041 . . . . . rs199872523 . . . . . . . . . . . . . 0.149 0.247 T 0.163 0.268 B 0.021 0.181 B 0.021 0.269 N 0.608 0.326 D 1.175 0.300 L 3.37 0.059 T -0.58 0.174 N 0.658 0.670 -1.062 0.113 T 0.014 0.056 T 0.005 0.138 T 3.907 0.526 23.5 0.993 0.600 0.434 0.269 N c -0.164 -0.046 1.000 0.747 0.554 0.283 0 3.04 0.340 0.870 0.275 0.154 0.240 0.999 0.424 0.958 0.437 4.942 0.132 . . . 0.0004 0 0.0001 0.0001 0 4.807e-05 3.699e-05 0 0.0027 3.232e-05 0 0 0 0 0 6.672e-05 0 het 470.11 29 20 36842049 . G A 470.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.215;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.074;QD=16.21;ReadPosRankSum=0.110;VQSLOD=10.5945;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,16:29:99:500,0,329 20 36845738 36845738 C T exonic KIAA1755 nonsynonymous SNV KIAA1755:NM_001348708:exon11:c.G1771A:p.E591K,KIAA1755:NM_001029864:exon13:c.G2818A:p.E940K 0.34 0.25 0.34 0.52 0.3 0.3 0.3722 0.2849 0.4951 0.5223 0.4225 0.3546 0.392 0.3103 0.29 0.25 0.32 0.37 0.3 rs760998 COSM443786 1(pancreas);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.096 0.201 N 1 0.090 P -1.87 0.003 N 3.53 0.210 T 0.79 0.021 N 0.072 0.127 -0.918 0.458 T 0.000 0.000 T . . . 0.662 0.157 8.575 0.385 0.026 0.004 0.019 N c -1.200 -0.971 1.000 0.747 0.601 0.348 0 3.46 0.386 3.250 0.509 0.154 0.240 0.993 0.376 0.507 0.272 5.903 0.181 . . . 0.3465 0.2595 0.4391 0.2535 0.5068 0.3551 0.3304 0.3203 0.2837 0.3312 0.2625 0.3897 0.2417 0.5365 0.3526 0.3410 0.3535 het 267.42 26 20 36845738 . C T 267.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.830;DP=26;Dels=0.00;FS=1.718;HRun=1;HaplotypeScore=0.0000;MQ=58.02;MQ0=0;MQRankSum=-2.439;QD=10.29;ReadPosRankSum=0.311;VQSLOD=3.4570;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,11:26:99:297,0,417 20 36859711 36859711 G A exonic KIAA1755 synonymous SNV KIAA1755:NM_001029864:exon5:c.C1764T:p.A588A,KIAA1755:NM_001348708:exon5:c.C921T:p.A307A 0.26 0.25 0.22 0.28 0.28 0.26 0.3137 0.2789 0.1859 0.2609 0.3528 0.3356 0.3804 0.3417 0.29 0.27 0.3 0.32 0.29 rs1205418 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2884 0.2674 0.1716 0.3298 0.2504 0.3211 0.3127 0.3153 0.3201 0.2899 0.2649 0.1897 0.2848 0.2709 0.3167 0.3058 0.2914 het 488.14 25 20 36859711 . G A 488.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.553;DP=25;Dels=0.00;FS=3.960;HRun=0;HaplotypeScore=0.0000;MQ=58.24;MQ0=0;MQRankSum=0.204;QD=19.53;ReadPosRankSum=0.087;VQSLOD=3.2407;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,17:25:99:518,0,202 20 36869516 36869516 C A exonic KIAA1755 nonsynonymous SNV KIAA1755:NM_001029864:exon3:c.G1017T:p.K339N 0.26 0.18 0.23 0.27 0.32 0.31 0.3077 0.1945 0.1787 0.2390 0.3247 0.3394 0.3747 0.3661 0.29 0.2 0.33 0.27 0.39 rs1205434 COSM3758560 1(large_intestine) . . . . . . . . . . . 0.027 0.465 D 0.013 0.154 B 0.01 0.139 B 0.091 0.203 N 0.989 0.243 P 2.125 0.592 M -0.05 0.634 T -2.26 0.505 N 0.015 0.002 -1.043 0.164 T 0.000 0.000 T . . . 3.906 0.526 23.5 0.997 0.816 0.418 0.265 N c -0.460 -0.445 0.019 0.132 0.554 0.283 0 3.13 0.349 0.400 0.205 0.848 0.348 0.001 0.137 0.374 0.250 7.986 0.292 . ENSG00000149633.7 Testis 0.3038 0.1917 0.1852 0.4017 0.2437 0.3233 0.3314 0.3399 0.3707 0.2759 0.1959 0.2093 0.4007 0.2670 0.3128 0.3156 0.2838 het 4154.81 249 20 36869516 . C A 4154.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.146;DP=249;DS;Dels=0.00;FS=4.298;HRun=0;HaplotypeScore=2.8857;MQ=59.67;MQ0=0;MQRankSum=-1.469;QD=16.69;ReadPosRankSum=-0.347;VQSLOD=5.0933;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:123,126:249:99:3498,0,3413 20 36870122 36870122 T G exonic KIAA1755 synonymous SNV KIAA1755:NM_001029864:exon3:c.A411C:p.P137P,KIAA1755:NM_001348708:exon3:c.A411C:p.P137P 0.26 0.2 0.23 0.27 0.32 0.31 0.3088 0.2123 0.1790 0.2458 0.3243 0.3378 0.3722 0.3669 0.29 0.21 0.33 0.27 0.37 rs1205435 COSM3758561 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3054 0.2141 0.1864 0.4018 0.2504 0.3228 0.3302 0.3403 0.3720 0.2830 0.2200 0.2117 0.3967 0.2756 0.3133 0.3150 0.2857 het 2163.03 188 20 36870122 . T G 2163.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.177;DP=188;Dels=0.00;FS=0.553;HRun=2;HaplotypeScore=12.3516;MQ=59.29;MQ0=0;MQRankSum=-0.107;QD=11.51;ReadPosRankSum=0.389;VQSLOD=3.2612;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,93:188:99:2193,0,2553 20 36946848 36946848 G A exonic BPI nonsynonymous SNV BPI:NM_001725:exon6:c.G646A:p.E216K 0.44 0.54 0.43 0.22 0.46 0.5 0.4624 0.4994 0.3793 0.2262 0.5644 0.4820 0.4934 0.4991 0.5 0.5 0.49 0.39 0.57 rs4358188 COSM149171 1(stomach);1(oesophagus);1(skin);4(large_intestine) Benign not_specified RCV000456105.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.244 0.036 N 1 0.090 P -1.985 0.002 N 3.73 0.040 T -0.1 0.085 N 0.022 0.568 -0.907 0.472 T 0.000 0.000 T . . . -0.621 0.049 0.111 0.681 0.083 0.003 0.014 N c -1.624 -1.500 0.019 0.132 0.487 0.133 0 0.595 0.166 -1.105 0.034 -0.209 0.100 0.000 0.063 0.077 0.179 3.885 0.085 Bactericidal permeability-increasing protein\x2c alpha/beta domain;Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c N-terminal ENSG00000101425.8 Thyroid 0.4581 0.5039 0.3843 0.4040 0.2246 0.5592 0.4838 0.4568 0.4979 0.4912 0.4990 0.4368 0.3775 0.2191 0.5668 0.5027 0.5082 het 3851.94 228 20 36946848 . G A 3851.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.873;DP=228;DS;Dels=0.00;FS=6.723;HRun=1;HaplotypeScore=3.6604;MQ=59.37;MQ0=0;MQRankSum=-0.766;QD=16.89;ReadPosRankSum=-2.156;VQSLOD=3.3861;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:102,126:228:99:3288,0,2734 20 36952342 36952342 C T exonic BPI nonsynonymous SNV BPI:NM_001725:exon8:c.C839T:p.A280V 0.15 0.22 0.12 0.22 0.039 0.11 0.0868 0.2082 0.1348 0.2447 0.0591 0.0440 0.0606 0.0794 0.099 0.2 0.045 0.15 0.033 rs5741804 COSM4418444 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.125 0.273 T 0.005 0.119 B 0.003 0.080 B 0.256 0.037 N 1 0.090 P -0.55 0.024 N 2.97 0.095 T -0.98 0.260 N 0.018 0.199 -0.994 0.316 T 0.000 0.000 T . . . 0.200 0.113 4.684 0.950 0.254 0.014 0.047 N c -0.883 -1.025 0.005 0.108 0.487 0.133 0 -0.992 0.097 0.155 0.161 -0.401 0.062 0.000 0.063 0.000 0.016 5.963 0.184 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c C-terminal . . 0.0868 0.2094 0.1307 0.0558 0.2500 0.0600 0.0431 0.0640 0.0783 0.1056 0.2106 0.1148 0.0464 0.2553 0.0501 0.0448 0.0652 het 1304.92 117 20 36952342 . C T 1304.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.646;DP=117;Dels=0.00;FS=0.709;HRun=0;HaplotypeScore=3.8817;MQ=59.32;MQ0=0;MQRankSum=0.645;QD=11.15;ReadPosRankSum=0.840;VQSLOD=6.2547;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,51:117:99:1335,0,1719 20 36974945 36974945 C T exonic LBP nonsynonymous SNV LBP:NM_004139:exon1:c.C26T:p.P9L 0.064 0.027 0.035 0.068 0.079 0.12 0.0778 0.0391 0.0289 0.0868 0.0620 0.0847 0.0531 0.1112 0.068 0.04 0.082 0.065 0.074 rs2232580 COSM4001901 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.165 0.232 T 0.002 0.090 B 0.001 0.040 B 0.449 0.048 N 1 0.090 P 0.015 0.080 N 3.52 0.049 T 0.69 0.022 N 0.031 0.014 -0.941 0.425 T 0.000 0.002 T . . . 0.936 0.183 10.29 0.442 0.033 0.004 0.021 N c -1.205 -1.180 0.993 0.329 0.447 0.083 0 1.32 0.208 -0.196 0.095 -1.465 0.011 0.000 0.063 0.000 0.016 5.794 0.175 . ENSG00000101425.8 Esophagus_Muscularis 0.0742 0.0382 0.0313 0.0636 0.0872 0.0607 0.0836 0.0664 0.1119 0.0666 0.0414 0.0370 0.0861 0.0984 0.0570 0.0814 0.0653 het 1314.90 95 20 36974945 . C T 1314.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.243;DP=95;Dels=0.00;FS=10.414;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=-1.161;QD=13.84;ReadPosRankSum=0.481;VQSLOD=4.1002;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,51:95:99:1345,0,1142 20 36979265 36979265 T C exonic LBP synonymous SNV LBP:NM_004139:exon3:c.T291C:p.P97P 0.21 0.42 0.1 0.073 0.13 0.24 0.1711 0.3780 0.0754 0.0894 0.1045 0.1576 0.1336 0.2344 0.23 0.37 0.16 0.15 0.2 rs2232582 COSM4001902 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1615 0.3812 0.0820 0.1580 0.0893 0.1067 0.1584 0.1497 0.2334 0.2072 0.3686 0.1002 0.1656 0.1007 0.1025 0.1597 0.1486 het 1368.67 142 20 36979265 . T C 1368.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.002;DP=142;Dels=0.00;FS=9.319;HRun=3;HaplotypeScore=3.7546;MQ=59.57;MQ0=0;MQRankSum=-1.007;QD=9.64;ReadPosRankSum=-1.652;VQSLOD=3.3506;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,57:142:99:1399,0,2499 20 36989381 36989381 G A exonic LBP synonymous SNV LBP:NM_004139:exon6:c.G612A:p.S204S 0.65 0.65 0.54 0.88 0.49 0.65 0.5553 0.6130 0.6063 0.8815 0.4510 0.4887 0.5308 0.6246 0.55 0.62 0.51 0.55 0.47 rs2232596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5603 0.6149 0.6043 0.5140 0.8815 0.4560 0.4975 0.5444 0.6262 0.5375 0.6001 0.6074 0.5099 0.8745 0.4449 0.4860 0.4918 hom 7152.44 237 20 36989381 . G A 7152.44 Mask AC=2;AF=1.00;AN=2;DP=237;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5410;MQ=59.08;MQ0=0;QD=30.18;VQSLOD=8.8867;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:7152,539,0 20 39797465 39797465 T C exonic PLCG1 nonsynonymous SNV PLCG1:NM_002660:exon21:c.T2438C:p.I813T,PLCG1:NM_182811:exon21:c.T2438C:p.I813T 0.73 0.98 0.64 0.81 0.54 0.58 0.6155 0.9221 0.6149 0.8087 0.5789 0.5501 0.6150 0.5999 0.67 0.92 0.54 0.83 0.58 rs753381 . . . . . . . . . . . . . 0.547 0.067 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.212 P -1.165 0.009 N 0.91 0.449 T 1.04 0.013 N 0.042 0.064 -0.938 0.429 T 0.000 0.000 T . . . 1.643 0.259 14.09 0.870 0.163 0.273 0.230 N c -0.737 -0.447 1.000 0.517 0.672 0.522 0 5.82 0.927 1.049 0.298 0.069 0.176 0.732 0.287 0.998 0.697 15.181 0.725 Pleckstrin homology domain|SH3 domain ENSG00000132793.7 Artery_Aorta 0.6098 0.9260 0.6043 0.5806 0.8139 0.5839 0.5467 0.6076 0.6016 0.6790 0.9256 0.6031 0.58 0.8300 0.5917 0.5500 0.6043 het 1196.13 80 20 39797465 . T C 1196.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.365;DP=80;Dels=0.00;FS=5.878;HRun=1;HaplotypeScore=1.8410;MQ=58.69;MQ0=0;MQRankSum=0.592;QD=14.95;ReadPosRankSum=0.184;VQSLOD=5.3207;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,45:80:99:1226,0,903 20 40045902 40045902 C T exonic CHD6 nonsynonymous SNV CHD6:NM_032221:exon32:c.G6215A:p.R2072Q 0.0002 . 0.0014 . . . 0.0004 0 0.0034 0 0 8.995e-05 0 6.057e-05 0.0002 . 0.0002 0.011 . rs181643165 COSM4823388 1(cervix) . . . . . . . . . . . 0.092 0.316 T 0.999 0.764 D 0.978 0.725 D 0.000 0.523 D 0.868 0.355 D 2.565 0.752 M -2.06 0.859 D -1.12 0.289 N 0.504 0.549 0.303 0.876 D 0.725 0.906 D 0.094 0.762 D 5.335 0.722 25.8 0.999 0.990 0.988 0.867 D c 0.512 0.439 0.593 0.217 0.707 0.730 0 5.44 0.793 5.746 0.681 0.852 0.362 0.998 0.411 0.425 0.258 19.623 0.956 . . . 0.0004 0 0.0026 0 5.799e-05 0 8.058e-05 0 3.249e-05 3.232e-05 0 0.0012 0 0 0 0 0 het 2307.92 145 20 40045902 . C T 2307.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.798;DP=145;Dels=0.00;FS=1.384;HRun=1;HaplotypeScore=2.3696;MQ=59.84;MQ0=0;MQRankSum=1.371;QD=15.92;ReadPosRankSum=1.399;VQSLOD=4.1349;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,89:145:99:2338,0,1403 20 40714479 40714479 G A exonic PTPRT synonymous SNV PTPRT:NM_007050:exon28:c.C3861T:p.Y1287Y,PTPRT:NM_133170:exon29:c.C3918T:p.Y1306Y 0.14 0.12 0.17 0.073 0.24 0.14 0.1951 0.1331 0.1219 0.0790 0.1944 0.2416 0.2127 0.1553 0.21 0.13 0.25 0.11 0.24 rs2016647 COSM3758575;COSM3758574 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1969 0.1312 0.1379 0.2685 0.0765 0.1981 0.2446 0.2157 0.1613 0.1922 0.1386 0.1396 0.2980 0.0660 0.1934 0.2372 0.2004 het 2288.15 181 20 40714479 . G A 2288.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.264;DP=181;Dels=0.00;FS=1.965;HRun=1;HaplotypeScore=3.9964;MQ=59.26;MQ0=0;MQRankSum=0.785;QD=12.64;ReadPosRankSum=1.563;VQSLOD=5.8608;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,93:181:99:2318,0,2307 20 41306600 41306600 A G exonic PTPRT synonymous SNV PTPRT:NM_007050:exon7:c.T1059C:p.D353D,PTPRT:NM_133170:exon7:c.T1059C:p.D353D 0.38 0.46 0.43 0.35 0.35 0.32 0.3785 0.4509 0.4519 0.3562 0.3944 0.3640 0.34 0.3500 0.38 0.44 0.35 0.4 0.35 rs2425516 COSM3758576;COSM3758577 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3809 0.4538 0.4451 0.3376 0.3623 0.4017 0.3628 0.3647 0.3524 0.3983 0.4567 0.4043 0.3311 0.3680 0.4038 0.3685 0.3801 het 2227.16 198 20 41306600 . A G 2227.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.647;DP=198;Dels=0.00;FS=3.317;HRun=0;HaplotypeScore=5.8186;MQ=59.81;MQ0=0;MQRankSum=-2.098;QD=11.25;ReadPosRankSum=0.329;VQSLOD=3.5408;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,96:198:99:2257,0,2626 20 41420095 41420095 T C exonic PTPRT nonsynonymous SNV PTPRT:NM_007050:exon3:c.A226G:p.M76V,PTPRT:NM_133170:exon3:c.A226G:p.M76V 0.011 0.0015 0.0043 . 0.017 0.033 0.0169 0.0042 0.0057 0.0003 0.0069 0.0168 0.0205 0.0413 0.0089 0.0021 0.012 0.011 0.016 rs17811401 . . . . . . . . . . . . . 0.193 0.225 T 0.0 0.026 B 0.003 0.112 B 0.000 0.629 D 0.976 0.392 D 0.755 0.192 N 4.57 0.019 T -1.29 0.324 N 0.163 0.196 -0.869 0.507 T 0.006 0.020 T . . . 1.012 0.191 10.73 0.951 0.257 0.873 0.466 D c -0.110 0.076 0.001 0.073 0.487 0.133 0 5.54 0.828 2.118 0.413 1.061 0.807 1.000 0.715 1.000 0.888 10.088 0.414 Concanavalin A-like lectin/glucanase domain|MAM domain . . 0.0133 0.0028 0.0042 0.0323 0.0001 0.0062 0.0130 0.0113 0.0361 0.0090 0.0027 0.0036 0.0298 0 0.0094 0.0132 0.0112 het 317.48 22 20 41420095 . T C 317.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.139;DP=22;Dels=0.00;FS=2.199;HRun=1;HaplotypeScore=0.7340;MQ=58.95;MQ0=0;MQRankSum=1.002;QD=14.43;ReadPosRankSum=-0.668;VQSLOD=6.0891;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:347,0,206 20 42089511 42089511 T C exonic SRSF6 synonymous SNV SRSF6:NM_006275:exon6:c.T843C:p.P281P 0.82 0.97 0.94 0.69 0.86 0.63 0.8368 0.9652 0.9420 0.6963 0.8524 0.8640 0.8117 0.6406 0.89 0.96 0.85 0.86 0.93 rs2235611 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8393 0.9662 0.9360 0.8018 0.6974 0.8511 0.8686 0.8378 0.6473 0.8834 0.9609 0.9284 0.7848 0.6921 0.8418 0.8691 0.8684 hom 2081.29 61 20 42089511 . T C 2081.29 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.9789;MQ=57.48;MQ0=0;QD=34.12;VQSLOD=8.0215;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:2114,166,0 20 42225114 42225114 G A exonic IFT52 synonymous SNV IFT52:NM_001303458:exon3:c.G159A:p.V53V,IFT52:NM_001303459:exon3:c.G159A:p.V53V,IFT52:NM_016004:exon3:c.G159A:p.V53V 0.74 0.59 0.79 0.79 0.83 0.79 0.7806 0.6307 0.7445 0.8183 0.8246 0.8035 0.7870 0.7702 0.74 0.64 0.8 0.79 0.74 rs2664519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7827 0.6322 0.7460 0.8039 0.8185 0.8310 0.8017 0.7773 0.7652 0.7587 0.6359 0.7416 0.8113 0.8199 0.8317 0.8041 0.7929 hom 2744.37 103 20 42225114 . G A 2744.37 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.8582;MQ=59.11;MQ0=0;QD=26.64;VQSLOD=7.0489;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:2777,211,0 20 42328639 42328639 T C exonic MYBL2 synonymous SNV MYBL2:NM_001278610:exon6:c.T834C:p.P278P,MYBL2:NM_002466:exon7:c.T906C:p.P302P 0.93 0.99 0.86 0.9 0.94 0.93 0.9141 0.9728 0.7504 0.9239 0.9453 0.9245 0.9185 0.9324 0.94 0.97 0.92 0.95 0.94 rs285162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9068 0.9749 0.7555 0.9558 0.9196 0.9449 0.9223 0.9064 0.9313 0.9385 0.9724 0.7602 0.9570 0.9082 0.9505 0.9297 0.9235 hom 4463.15 143 20 42328639 . T C 4463.15 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.5399;MQ=59.12;MQ0=0;QD=31.21;VQSLOD=8.6351;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4462,358,0 20 42815190 42815190 G A exonic JPH2 synonymous SNV JPH2:NM_020433:exon1:c.C156T:p.Y52Y,JPH2:NM_175913:exon1:c.C156T:p.Y52Y 0.85 0.96 0.89 0.74 0.83 0.82 0.8450 0.9394 0.9240 0.7468 0.8417 0.8316 0.8565 0.8359 0.87 0.94 0.83 0.85 0.8 rs1883790 . . Benign|Benign not_specified|Cardiovascular_phenotype RCV000125441.3|RCV000242911.1 MedGen|MedGen CN169374|CN230736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8455 0.9388 0.9157 0.8447 0.7481 0.8464 0.8292 0.8395 0.8367 0.8612 0.9363 0.9043 0.8113 0.7379 0.8314 0.8375 0.8432 hom 2487.09 80 20 42815190 . G A 2487.09 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.0508;MQ=59.71;MQ0=0;QD=31.09;VQSLOD=8.8655;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2520,211,0 20 42825929 42825929 C T exonic OSER1 synonymous SNV OSER1:NM_016470:exon4:c.G642A:p.V214V 0.3 0.41 0.11 0.41 0.15 0.32 0.2011 0.3578 0.1181 0.4243 0.1795 0.1352 0.2037 0.3190 0.2 0.34 0.13 0.26 0.16 rs8268 COSM4417463 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1945 0.3609 0.1176 0.1564 0.4251 0.1812 0.1328 0.1699 0.3165 0.2203 0.3496 0.1205 0.1467 0.4182 0.1775 0.1437 0.1802 het 1267.98 109 20 42825929 . C T 1267.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.725;DP=109;Dels=0.00;FS=4.896;HRun=0;HaplotypeScore=4.1200;MQ=58.98;MQ0=0;MQRankSum=-0.436;QD=11.63;ReadPosRankSum=0.704;VQSLOD=5.1710;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,49:109:99:1298,0,1676 20 42826350 42826350 A C exonic OSER1 nonsynonymous SNV OSER1:NM_016470:exon4:c.T221G:p.V74G 0.35 0.59 0.14 0.42 0.15 0.33 0.2243 0.5227 0.1279 0.4277 0.1856 0.1441 0.2201 0.3362 0.27 0.51 0.14 0.35 0.15 rs9346 COSM4984877 7(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.018 0.506 D 0.062 0.218 B 0.119 0.306 B 0.197 0.167 N 0.000 0.588 P 2.005 0.547 M 0.57 0.544 T -1.89 0.441 N 0.173 0.246 -0.937 0.432 T 0.000 0.000 T . . . 2.649 0.379 20.5 0.991 0.509 0.960 0.667 D c -0.349 -0.279 0.956 0.282 0.719 0.830 0 1.03 0.191 0.961 0.287 0.189 0.248 0.013 0.187 0.995 0.604 9.161 0.360 . . . 0.2139 0.5281 0.1282 0.1720 0.4294 0.1865 0.1412 0.1817 0.3335 0.2746 0.5195 0.1340 0.1722 0.4246 0.1850 0.1522 0.1939 het 1149.14 78 20 42826350 . A C 1149.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.706;DP=78;Dels=0.00;FS=3.697;HRun=1;HaplotypeScore=5.6819;MQ=59.20;MQ0=0;MQRankSum=0.889;QD=14.73;ReadPosRankSum=0.494;VQSLOD=5.0373;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:37,41:78:99:1179,0,882 20 42826379 42826379 C T exonic OSER1 synonymous SNV OSER1:NM_016470:exon4:c.G192A:p.G64G 0.38 0.63 0.16 0.48 0.16 0.34 0.2435 0.5588 0.1649 0.4861 0.1894 0.1537 0.2415 0.3530 0.28 0.54 0.15 0.37 0.13 rs11274 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2291 0.5581 0.1617 0.1733 0.4868 0.1900 0.1477 0.1921 0.3407 0.2921 0.5547 0.1691 0.1733 0.4752 0.1889 0.1592 0.1994 het 661.13 49 20 42826379 . C T 661.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.390;DP=49;Dels=0.00;FS=1.576;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=1.110;QD=13.49;ReadPosRankSum=0.250;VQSLOD=6.5795;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,25:49:99:691,0,635 20 42939750 42939750 T C exonic FITM2 synonymous SNV FITM2:NM_001080472:exon1:c.A39G:p.G13G 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.94 0.98 rs6073401 COSM4594587 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 hom 993.28 32 20 42939750 . T C 993.28 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=31.04;VQSLOD=8.0547;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:84.24:1026,84,0 20 43264927 43264927 C T exonic ADA synonymous SNV ADA:NM_000022:exon2:c.G36A:p.V12V,ADA:NM_001322051:exon2:c.G36A:p.V12V 0.98 0.93 1. 1. 1. 1. 0.9955 0.9499 0.9982 1 1 0.9999 0.9939 1 0.98 0.95 1. 0.98 0.95 rs394105 . . Benign\x2cBenign Severe_combined_immunodeficiency_disease\x2cnot_specified RCV000029300.1\x2cRCV000455130.1 MeSH:MedGen:Orphanet:SNOMED_CT\x2cMedGen D016511:C0085110:ORPHA183660:31323000\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9469 0.9977 1 1 1 0.9999 0.9985 1.0000 0.9869 0.9545 0.9952 1 1 1 0.9999 0.9990 hom 1441.44 49 20 43264927 . C T 1441.44 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.28;MQ0=0;QD=29.42;VQSLOD=8.1136;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1474,117,0 20 43378770 43378770 A G exonic KCNK15 nonsynonymous SNV KCNK15:NM_022358:exon2:c.A284G:p.E95G 0.61 0.8 0.5 0.67 0.48 0.49 0.5397 0.7482 0.5100 0.6838 0.5136 0.5015 0.4927 0.5177 0.58 0.74 0.5 0.64 0.42 rs1111032 COSM3740146 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T . . . . . . 0.000 0.843 N 0.083 0.366 P . . . 4.58 0.019 T 7.36 0.000 N 0.066 0.052 -1.256 0.000 T 0.000 0.000 T . . . 0.467 0.139 7.175 0.781 0.117 0.139 0.179 N c 0.695 0.472 1.000 0.747 0.526 0.212 0 4.14 0.477 6.820 0.749 -0.342 0.072 1.000 0.715 0.050 0.164 12.133 0.531 Potassium channel domain ENSG00000244558.1|ENSG00000124249.5|ENSG00000244558.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere 0.5285 0.7484 0.5132 0.5549 0.6893 0.5055 0.4908 0.5124 0.4880 0.5826 0.7557 0.5394 0.5563 0.7038 0.5097 0.4942 0.4990 het 403.62 44 20 43378770 . A G 403.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.567;DP=44;Dels=0.00;FS=5.103;HRun=1;HaplotypeScore=2.4258;MQ=60.00;MQ0=0;MQRankSum=-0.313;QD=9.17;ReadPosRankSum=-0.313;VQSLOD=4.8689;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,17:44:99:434,0,676 20 43379264 43379264 A C exonic KCNK15 nonsynonymous SNV KCNK15:NM_022358:exon2:c.A778C:p.T260P 0.61 0.79 0.51 0.67 0.49 0.49 0.5347 0.7424 0.5163 0.6841 0.5290 0.5023 0.4799 0.4862 0.54 0.7 0.45 0.26 0.32 rs6073538 COSM3758589 4(thyroid);1(large_intestine) . . . . . . . . . . . 0.272 0.159 T . . . . . . 0.030 0.017 N 1 0.090 P . . . 2.61 0.131 T -0.13 0.090 N 0.014 0.002 -0.986 0.336 T 0.000 0.000 T . . . -0.912 0.035 0.024 0.393 0.027 0.008 0.031 N c -1.006 -1.183 1.000 0.747 0.520 0.210 0 -1.44 0.083 -0.998 0.038 -0.446 0.057 0.000 0.063 0.000 0.016 1.596 0.025 . ENSG00000244558.1|ENSG00000124249.5|ENSG00000244558.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere 0.5322 0.7461 0.5178 0.5591 0.6910 0.5222 0.4959 0.5188 0.4822 0.5861 0.7560 0.5389 0.5533 0.7053 0.5117 0.4987 0.5042 het 188.42 30 20 43379264 . A C 188.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.636;DP=30;Dels=0.00;FS=2.764;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.399;QD=6.28;ReadPosRankSum=0.432;VQSLOD=4.2318;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,9:30:99:218,0,520 20 43723573 43723573 C T exonic KCNS1 nonsynonymous SNV KCNS1:NM_001322799:exon4:c.G1519A:p.G507R,KCNS1:NM_002251:exon5:c.G1519A:p.G507R 0.0004 . . . 0.002 . 0.0005 0 0 0 0.0005 0.0009 0.0011 6.075e-05 0.0008 . 0.0012 . . rs142180542 . . . . . . . . . . . . . 0.156 0.241 T 0.242 0.292 B 0.144 0.322 B 0.197 0.167 N 0.999 0.457 D 0.975 0.246 L -4.02 0.964 D -0.71 0.202 N 0.543 0.580 0.378 0.888 D 0.762 0.919 D 0.072 0.714 D 4.708 0.631 24.6 0.998 0.904 0.453 0.273 N c -0.328 -0.204 1.000 0.747 0.554 0.246 0 5.67 0.876 1.580 0.359 0.070 0.177 0.010 0.182 0.891 0.375 16.938 0.860 . . . 0.0005 6.534e-05 0.0001 0.0003 0 0.0005 0.0009 0.0005 0.0002 0.0003 0 0 0 0 0.0003 0.0006 0 het 2523.74 195 20 43723573 . C T 2523.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.832;DP=195;Dels=0.00;FS=7.356;HRun=0;HaplotypeScore=7.4651;MQ=59.36;MQ0=0;MQRankSum=-0.040;QD=12.94;ReadPosRankSum=-0.290;VQSLOD=2.8688;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:100,95:195:99:2554,0,2633 20 43723627 43723627 T C exonic KCNS1 nonsynonymous SNV KCNS1:NM_001322799:exon4:c.A1465G:p.I489V,KCNS1:NM_002251:exon5:c.A1465G:p.I489V 0.41 0.62 0.38 0.21 0.46 0.27 0.4128 0.5701 0.2882 0.1910 0.5429 0.4522 0.4328 0.3046 0.49 0.57 0.45 0.46 0.4 rs734784 COSM149178 1(bone);1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.440 0.126 N 1 0.090 P -0.46 0.027 N -3.9 0.960 D 0.14 0.054 N 0.015 0.002 -1.019 0.241 T 0.000 0.000 T . . . -1.879 0.010 0.002 0.180 0.006 0.004 0.020 N c -1.614 -1.519 0.756 0.234 0.581 0.326 0 0.293 0.149 -0.514 0.063 -0.328 0.075 0.000 0.063 0.520 0.274 6.125 0.193 . ENSG00000124145.5|ENSG00000124107.5 Breast_Mammary_Tissue|Skin_Sun_Exposed_Lower_leg 0.4098 0.5668 0.3135 0.4042 0.1941 0.5259 0.4566 0.4192 0.3042 0.4781 0.5694 0.3278 0.4128 0.1894 0.5247 0.4548 0.4816 hom 7840.18 250 20 43723627 . T C 7840.18 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7771;MQ=59.53;MQ0=0;QD=31.36;VQSLOD=8.6024;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7839,635,0 20 43926573 43926573 C T exonic MATN4 nonsynonymous SNV MATN4:NM_030592:exon6:c.G1318A:p.G440S,MATN4:NM_030590:exon7:c.G1441A:p.G481S,MATN4:NM_003833:exon9:c.G1564A:p.G522S 0.22 0.26 0.34 0.11 0.28 0.12 0.2300 0.2503 0.3288 0.1160 0.2951 0.2448 0.2384 0.1215 0.25 0.25 0.25 0.24 0.28 rs2227275 COSM3758592;COSM3758593 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.623 0.056 T 0.002 0.205 B 0.024 0.234 B 0.013 0.288 N 0.424 0.323 P 0.85 0.213 L -1.06 0.768 T 0.47 0.050 N 0.176 0.214 -1.118 0.024 T 0.000 0.000 T . . . 2.519 0.364 19.59 0.974 0.332 0.872 0.464 D c -0.272 -0.037 0.993 0.328 0.624 0.395 0 4.64 0.572 1.509 0.352 0.067 0.174 1.000 0.715 0.982 0.498 13.078 0.583 von Willebrand factor\x2c type A . . 0.2351 0.2488 0.3290 0.1994 0.1099 0.2936 0.2467 0.2401 0.1221 0.2509 0.2575 0.3134 0.2119 0.1089 0.2947 0.2495 0.2495 het 997.08 87 20 43926573 . C T 997.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.566;DP=87;Dels=0.00;FS=5.510;HRun=1;HaplotypeScore=2.2633;MQ=60.00;MQ0=0;MQRankSum=-0.183;QD=11.46;ReadPosRankSum=-1.759;VQSLOD=4.9076;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,40:87:99:1027,0,1236 20 43933021 43933021 G T exonic MATN4 nonsynonymous SNV MATN4:NM_030590:exon3:c.C490A:p.R164S,MATN4:NM_030592:exon3:c.C490A:p.R164S,MATN4:NM_003833:exon4:c.C490A:p.R164S 0.4 0.2 0.34 0.76 0.26 0.47 0.3755 0.2392 0.4868 0.7689 0.2881 0.3073 0.3465 0.4633 0.24 0.19 0.27 0.25 0.098 rs2072788 COSM3749710;COSM3749709 10(soft_tissue);5(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.121 0.263 B 0.06 0.287 B 0.001 0.437 D 1 0.186 P -1.29 0.007 N -1.72 0.833 D 1.56 0.010 N 0.094 0.266 -0.947 0.415 T 0.000 0.000 T . . . 1.211 0.211 11.80 0.899 0.186 0.189 0.202 N c -0.763 -0.566 0.001 0.074 0.598 0.340 0 3.82 0.430 2.137 0.415 1.044 0.665 0.515 0.268 0.961 0.442 7.358 0.257 von Willebrand factor\x2c type A . . 0.3496 0.2034 0.4314 0.3302 0.7671 0.2535 0.2834 0.3127 0.4422 0.2739 0.1850 0.4257 0.3510 0.7491 0.2550 0.2694 0.2643 het 380.06 33 20 43933021 . G T 380.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.488;DP=33;Dels=0.00;FS=1.945;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.030;QD=11.52;ReadPosRankSum=-0.199;VQSLOD=6.2954;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,15:33:99:410,0,550 20 43933163 43933163 T C exonic MATN4 synonymous SNV MATN4:NM_030590:exon3:c.A348G:p.A116A,MATN4:NM_030592:exon3:c.A348G:p.A116A,MATN4:NM_003833:exon4:c.A348G:p.A116A 0.4 0.22 0.34 0.76 0.26 0.47 0.3740 0.2581 0.4799 0.7631 0.2980 0.3051 0.3504 0.4371 0.26 0.22 0.28 0.34 0.24 rs2233094 COSM3758594;COSM443892 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3508 0.2163 0.4410 0.3366 0.7659 0.2434 0.2772 0.3212 0.4240 0.2786 0.2025 0.4270 0.3510 0.7447 0.2550 0.2689 0.2684 het 199.07 17 20 43933163 . T C 199.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.914;DP=17;Dels=0.00;FS=5.315;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=-0.337;QD=11.71;ReadPosRankSum=-0.722;VQSLOD=5.7804;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:229,0,234 20 43976991 43976991 A G exonic SDC4 nonsynonymous SNV SDC4:NM_002999:exon1:c.T34C:p.F12L 0.31 0.13 0.3 0.42 0.38 0.38 0.4449 0.2409 0.4783 0.5082 0.5159 0.4637 0.4493 0.4071 0.28 0.16 0.34 0.14 0.11 rs2228384 COSM443897 2(thyroid);3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.354 0.043 N 1 0.588 P -1.905 0.002 N 1.72 0.266 T 1.24 0.010 N 0.044 0.024 -0.934 0.436 T 0.000 0.000 T . . . 1.585 0.252 13.77 0.784 0.119 0.065 0.124 N c -1.092 -0.869 1.000 0.747 0.564 0.319 0 1.9 0.247 0.261 0.181 0.088 0.194 0.995 0.385 0.796 0.335 5.835 0.177 . . . 0.3466 0.1494 0.3507 0.3754 0.4069 0.3738 0.3485 0.3597 0.3561 0.3122 0.1663 0.3687 0.39 0.4062 0.3779 0.3641 0.3548 hom 304.53 12 20 43976991 . A G 304.53 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49.50;MQ0=0;QD=25.38;VQSLOD=7.0360;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:27.08:338,27,0 20 44054349 44054349 T C exonic PIGT synonymous SNV PIGT:NM_001184730:exon10:c.T1314C:p.Y438Y,PIGT:NM_001184728:exon11:c.T1452C:p.Y484Y,PIGT:NM_001184729:exon11:c.T1419C:p.Y473Y,PIGT:NM_015937:exon12:c.T1620C:p.Y540Y 0.71 0.82 0.71 0.55 0.75 0.69 0.7391 0.7999 0.6963 0.5254 0.7768 0.7660 0.7472 0.7174 0.77 0.8 0.76 0.67 0.68 rs707577 COSM443902;COSM1483679 1(bone);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7380 0.7980 0.7017 0.8243 0.5260 0.7790 0.7617 0.7608 0.7191 0.7614 0.8048 0.7188 0.8013 0.5205 0.7782 0.7600 0.7571 het 986.44 68 20 44054349 . T C 986.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.247;DP=68;Dels=0.00;FS=12.505;HRun=0;HaplotypeScore=1.8313;MQ=59.32;MQ0=0;MQRankSum=-0.387;QD=14.51;ReadPosRankSum=0.670;VQSLOD=4.4360;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,36:68:99:1016,0,886 20 44184375 44184375 T C exonic WFDC8 nonsynonymous SNV WFDC8:NM_130896:exon4:c.A410G:p.N137S,WFDC8:NM_181510:exon4:c.A410G:p.N137S 0.28 0.37 0.34 0.059 0.4 0.23 0.3499 0.3773 0.2712 0.0439 0.4103 0.4151 0.3249 0.2620 0.4 0.37 0.41 0.37 0.52 rs2250860 COSM5001129 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.632 0.107 N 1 0.090 P -1.705 0.003 N 0.71 0.512 T 1.76 0.005 N 0.006 0.000 -1.024 0.225 T 0.000 0.000 T . . . -2.845 0.002 0.001 0.285 0.015 0.001 0.006 N c -1.825 -1.802 0.000 0.064 0.554 0.246 0 -4.39 0.033 -1.687 0.020 -0.974 0.023 0.000 0.063 0.001 0.043 6.978 0.237 Pancreatic trypsin inhibitor Kunitz domain|Proteinase inhibitor I2\x2c Kunitz\x2c conserved site ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000101457.8|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000182931.5|ENSG00000124116.14|ENSG00000182931.5|ENSG00000124116.14|ENSG00000124116.14|ENSG00000101446.7|ENSG00000124116.14|ENSG00000226188.2|ENSG00000101446.7|ENSG00000124116.14|ENSG00000229900.1|ENSG00000182931.5|ENSG00000232135.1|ENSG00000124116.14 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Testis|Thyroid 0.3475 0.3701 0.2887 0.2669 0.0440 0.4029 0.4269 0.3662 0.2651 0.3860 0.3742 0.3138 0.2980 0.0457 0.4063 0.4306 0.3870 hom 3711.89 115 20 44184375 . T C 3711.89 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=32.28;VQSLOD=9.7717;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:115:99:3667,283,0 20 44417643 44417643 A G exonic WFDC3 synonymous SNV WFDC3:NM_080614:exon3:c.T138C:p.G46G 0.65 0.64 0.79 0.65 0.71 0.54 0.6888 0.6621 0.8352 0.6212 0.7049 0.7073 0.6707 0.5579 0.7 0.66 0.71 0.72 0.7 rs6032537 COSM1178472 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6935 0.6579 0.8222 0.5900 0.6159 0.6887 0.7181 0.6911 0.5620 0.6903 0.6600 0.7919 0.6192 0.5906 0.6950 0.7140 0.6810 hom 6694.22 216 20 44417643 . A G 6694.22 Mask AC=2;AF=1.00;AN=2;DP=216;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6270;MQ=58.59;MQ0=0;QD=30.99;VQSLOD=8.2332;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6693,530,0 20 44417675 44417675 G C exonic WFDC3 nonsynonymous SNV WFDC3:NM_080614:exon3:c.C106G:p.H36D 0.65 0.64 0.79 0.65 0.71 0.54 0.6887 0.6621 0.8352 0.6199 0.7049 0.7074 0.6707 0.5580 0.7 0.66 0.71 0.71 0.69 rs6032538 . . . . . . . . . . . . . 0.867 0.026 T 0.0 0.026 B 0.0 0.013 B 0.085 0.207 N 1 0.186 P -3.155 0.000 N -0.45 0.699 T 1.42 0.008 N 0.035 0.289 -0.967 0.378 T 0.000 0.000 T . . . -1.055 0.030 0.012 0.736 0.101 0.000 0.001 N c -1.462 -1.321 0.990 0.319 0.554 0.283 0 1.13 0.197 -0.155 0.100 0.061 0.167 0.000 0.063 0.927 0.401 3.502 0.072 domain; domain|WAP-type 'WAP-type 'four-disulfide core&apos ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000182931.5|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000182931.5|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000182931.5|ENSG00000124116.14|ENSG00000182931.5|ENSG00000101457.8|ENSG00000124116.14|ENSG00000168634.4|ENSG00000182931.5|ENSG00000124116.14|ENSG00000124104.14|ENSG00000182931.5|ENSG00000101457.8|ENSG00000124116.14|ENSG00000182931.5|ENSG00000101457.8|ENSG00000168634.4|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124104.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000182931.5|ENSG00000124116.14|ENSG00000226188.2|ENSG00000101457.8|ENSG00000221046.1|ENSG00000124116.14|ENSG00000226188.2|ENSG00000101446.7|ENSG00000101457.8|ENSG00000221046.1|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000182931.5|ENSG00000168634.4|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000101457.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.6933 0.6585 0.8214 0.5894 0.6158 0.6886 0.7181 0.6914 0.5613 0.6900 0.6598 0.7924 0.6192 0.5888 0.6950 0.7136 0.6796 hom 6068.36 205 20 44417675 . G C 6068.36 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4106;MQ=58.99;MQ0=0;QD=29.60;VQSLOD=6.1599;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6067,505,0 20 44418564 44418564 A G exonic WFDC3 synonymous SNV WFDC3:NM_080614:exon2:c.T51C:p.S17S 0.63 0.62 0.75 0.65 0.66 0.5 0.6435 0.6334 0.8040 0.6187 0.6643 0.6495 0.6071 0.5193 0.65 0.64 0.65 0.69 0.63 rs3746493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6466 0.6307 0.7882 0.4717 0.6155 0.6513 0.6609 0.6248 0.5220 0.6472 0.6285 0.7608 0.5066 0.5892 0.6491 0.6612 0.6365 hom 6414.07 203 20 44418564 . A G 6414.07 Mask AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.79;MQ0=0;QD=31.60;VQSLOD=9.3990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6413,488,0 20 44420682 44420682 T C exonic DNTTIP1 synonymous SNV DNTTIP1:NM_052951:exon1:c.T39C:p.P13P 0.67 0.7 0.8 0.65 0.71 0.54 0.7302 0.7354 0.8462 0.6492 0.7349 0.7361 0.7353 0.6009 0.75 0.76 0.75 0.72 0.13 rs2664591 COSM3749711 1(liver);1(thyroid);16(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6992 0.7050 0.8419 0.5923 0.6140 0.6983 0.7095 0.6803 0.5474 0.7043 0.7086 0.7919 0.6233 0.5898 0.6951 0.7145 0.6828 hom 286.92 10 20 44420682 . T C 286.92 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.69;VQSLOD=13.4656;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:320,24,0 20 44452697 44452697 C A exonic TNNC2 synonymous SNV TNNC2:NM_003279:exon5:c.G384T:p.T128T 0.4 0.18 0.55 0.53 0.54 0.34 0.4964 0.2435 0.6104 0.5270 0.5745 0.5376 0.4824 0.3626 0.44 0.26 0.53 0.39 0.48 rs4629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5030 0.2349 0.5917 0.3876 0.5242 0.5694 0.5449 0.4996 0.3651 0.4565 0.2432 0.5680 0.3907 0.5025 0.5748 0.5405 0.4969 het 3922.44 250 20 44452697 . C A 3922.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.368;DP=250;DS;Dels=0.00;FS=7.192;HRun=0;HaplotypeScore=6.7891;MQ=59.63;MQ0=0;MQRankSum=1.361;QD=15.69;ReadPosRankSum=-1.060;VQSLOD=4.1392;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:129,121:250:99:3286,0,3370 20 44469290 44469290 G A exonic SNX21 nonsynonymous SNV SNX21:NM_033421:exon4:c.G460A:p.A154T,SNX21:NM_152897:exon4:c.G460A:p.A154T 0.35 0.066 0.52 0.43 0.53 0.35 0.4789 0.1453 0.5225 0.4436 0.6066 0.5425 0.4768 0.3683 0.41 0.16 0.53 0.29 0.46 rs4638862 COSM4001915;COSM4001916 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.395 0.109 T 0.004 0.209 B 0.005 0.154 B 0.028 0.257 N 0.767 0.588 P -0.695 0.019 N 1.65 0.276 T -0.41 0.140 N 0.082 0.075 -0.925 0.449 T 0.000 0.000 T . . . 2.249 0.331 17.83 0.943 0.239 0.730 0.354 D c -0.378 -0.269 0.834 0.247 0.635 0.413 0 2.39 0.284 1.007 0.293 0.953 0.551 1.000 0.715 0.997 0.653 3.931 0.087 Phox homologous domain ENSG00000124116.14|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000064601.12|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000182931.5|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124104.14|ENSG00000182931.5|ENSG00000124116.14|ENSG00000182931.5|ENSG00000101457.8|ENSG00000168634.4|ENSG00000101457.8|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124104.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000064601.12|ENSG00000124116.14|ENSG00000226188.2|ENSG00000124116.14|ENSG00000124116.14|ENSG00000168612.4|ENSG00000182931.5|ENSG00000124116.14|ENSG00000124104.14|ENSG00000101457.8|ENSG00000101457.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.4851 0.1331 0.5102 0.3745 0.4376 0.6003 0.5514 0.4898 0.3706 0.4341 0.1442 0.4976 0.3940 0.4192 0.6048 0.5576 0.5041 het 2854.33 237 20 44469290 . G A 2854.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.389;DP=237;Dels=0.00;FS=5.423;HRun=0;HaplotypeScore=7.6353;MQ=58.64;MQ0=0;MQRankSum=-0.047;QD=12.04;ReadPosRankSum=-1.202;VQSLOD=4.3774;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,116:237:99:2884,0,2723 20 44505973 44505973 T C exonic ZSWIM3 nonsynonymous SNV ZSWIM3:NM_080752:exon2:c.T776C:p.V259A 0.56 0.43 0.69 0.56 0.6 0.63 0.6057 0.4549 0.6950 0.5566 0.6634 0.6093 0.5958 0.6266 0.56 0.47 0.61 0.55 0.63 rs2903808 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.351 N 1 0.090 P -1.895 0.002 N 1.68 0.272 T 1.42 0.008 N 0.037 0.017 -0.964 0.384 T 0.000 0.000 T . . . -0.696 0.045 0.074 0.745 0.103 0.002 0.012 N c -1.070 -0.868 1.000 0.467 0.706 0.609 0 5.49 0.809 1.370 0.336 0.069 0.176 0.004 0.165 0.591 0.287 11.323 0.485 . ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000271984.1|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124104.14|ENSG00000182931.5|ENSG00000124116.14|ENSG00000182931.5|ENSG00000101457.8|ENSG00000168634.4|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000124116.14|ENSG00000124116.14|ENSG00000064601.12|ENSG00000124116.14|ENSG00000226188.2|ENSG00000124116.14|ENSG00000124116.14|ENSG00000168612.4|ENSG00000182931.5|ENSG00000124116.14|ENSG00000124104.14|ENSG00000101457.8|ENSG00000124116.14|ENSG00000101457.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6125 0.4524 0.6882 0.4886 0.5524 0.6508 0.6197 0.5994 0.6312 0.5755 0.4579 0.6639 0.5067 0.5316 0.6609 0.6233 0.6029 het 2018.96 148 20 44505973 . T C 2018.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.122;DP=148;Dels=0.00;FS=4.164;HRun=1;HaplotypeScore=2.9391;MQ=59.31;MQ0=0;MQRankSum=-0.093;QD=13.64;ReadPosRankSum=0.105;VQSLOD=6.0998;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:69,78:148:99:2049,0,1826 20 44506418 44506418 G A exonic ZSWIM3 synonymous SNV ZSWIM3:NM_080752:exon2:c.G1221A:p.R407R 0.48 0.33 0.64 0.46 0.55 0.51 0.5490 0.3809 0.6562 0.4746 0.6142 0.5723 0.5198 0.5002 0.51 0.39 0.56 0.33 0.58 rs1045493 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5562 0.3771 0.6485 0.4600 0.4700 0.6064 0.5799 0.5518 0.5023 0.5238 0.3871 0.6292 0.47 0.4511 0.6142 0.5840 0.5421 het 933.15 98 20 44506418 . G A 933.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.899;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1100;MQ=59.10;MQ0=0;MQRankSum=-0.845;QD=9.52;ReadPosRankSum=-0.673;VQSLOD=5.5838;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:63,35:98:99:963,0,1612 20 44512638 44512638 G T exonic ZSWIM1 synonymous SNV ZSWIM1:NM_080603:exon2:c.G1407T:p.L469L 0.024 0.019 0.025 . 0.07 0.0072 0.0400 0.0303 0.0296 0.0002 0.0736 0.0511 0.0553 0.0151 0.042 0.031 0.047 0.022 0.025 rs34017227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0399 0.0292 0.0293 0.0396 0.0001 0.0714 0.0509 0.0530 0.0149 0.0412 0.0302 0.0239 0.0464 0.0006 0.0659 0.0463 0.0541 het 1469.35 105 20 44512638 . G T 1469.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.121;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4932;MQ=58.76;MQ0=0;MQRankSum=0.338;QD=13.99;ReadPosRankSum=0.267;VQSLOD=6.1097;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,57:105:99:1499,0,1338 20 44596207 44596207 C G exonic ZNF335 nonsynonymous SNV ZNF335:NM_022095:exon6:c.G881C:p.S294T 0.78 0.88 0.68 0.55 0.94 0.79 0.8493 0.8792 0.5507 0.5471 0.9105 0.9461 0.8510 0.7823 0.92 0.88 0.95 0.78 0.93 rs6032606 COSM4001921 1(haematopoietic_and_lymphoid_tissue) Likely benign not_specified RCV000118927.2 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.841 0.090 N 1 0.090 P -0.46 0.027 N 3.26 0.067 T 0.39 0.035 N 0.021 0.005 -0.943 0.421 T 0.000 0.000 T . . . 0.765 0.167 9.247 0.191 0.006 0.030 0.078 N c -0.880 -0.717 0.999 0.383 0.745 0.986 0 4.87 0.627 1.859 0.388 0.136 0.221 0.149 0.234 0.586 0.286 14.562 0.676 . ENSG00000100979.10|ENSG00000100979.10|ENSG00000100979.10 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.8399 0.8804 0.5830 0.9296 0.5434 0.9114 0.9487 0.8800 0.7834 0.8941 0.8811 0.6355 0.9238 0.5539 0.9121 0.9477 0.8971 hom 3826.59 123 20 44596207 . C G 3826.59 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8455;MQ=59.51;MQ0=0;QD=31.11;VQSLOD=8.0222;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:3826,301,0 20 44596545 44596545 G A exonic ZNF335 synonymous SNV ZNF335:NM_022095:exon5:c.C642T:p.S214S 0.19 0.075 0.31 . 0.43 0.19 0.3313 0.1403 0.2786 0.0012 0.3880 0.4336 0.3393 0.2251 0.33 0.15 0.43 0.18 0.39 rs3848719 COSM443920 1(thyroid);1(large_intestine) other not_specified RCV000118924.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3298 0.1276 0.2894 0.3286 0.0012 0.3837 0.4368 0.3750 0.2285 0.3069 0.1344 0.2876 0.3020 0.0006 0.3955 0.4161 0.3830 hom 2985.98 96 20 44596545 . G A 2985.98 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6145;MQ=60.00;MQ0=0;QD=31.10;VQSLOD=7.6641;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3019,253,0 20 44642406 44642406 G C exonic MMP9 nonsynonymous SNV MMP9:NM_004994:exon10:c.G1721C:p.R574P 0.83 0.83 0.7 0.77 0.95 0.86 0.8839 0.8505 0.6116 0.7724 0.9164 0.9534 0.8894 0.8593 0.92 0.85 0.95 0.79 0.88 rs2250889 . . Benign|Benign Metaphyseal_anadysplasia|not_specified RCV000270314.1|RCV000381191.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.013 0.291 N 1 0.090 P -2.545 0.001 N 4.3 0.025 T 3.91 0.001 N 0.059 0.043 -1.031 0.200 T 0.000 0.000 T . . . 1.808 0.278 15.04 0.749 0.105 0.004 0.021 N c -1.301 -1.077 1.000 0.473 0.437 0.062 0 3.9 0.441 0.934 0.283 -0.519 0.050 0.000 0.063 0.526 0.275 5.292 0.149 Hemopexin-like domain . . 0.8762 0.8463 0.6406 0.9571 0.7761 0.9184 0.9543 0.8995 0.8597 0.9003 0.8484 0.6754 0.9536 0.7825 0.9135 0.9511 0.9082 hom 518.81 20 20 44642406 . G C 518.81 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.94;VQSLOD=13.3553;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:42.13:552,42,0 20 44664493 44664493 G T exonic SLC12A5 synonymous SNV SLC12A5:NM_001134771:exon4:c.G426T:p.R142R,SLC12A5:NM_020708:exon4:c.G357T:p.R119R 0.043 0.051 0.06 . 0.087 0.016 0.0614 0.0610 0.0514 0.0005 0.0543 0.0807 0.0795 0.0246 0.07 0.058 0.076 0.011 0.066 rs77659338 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0599 0.0606 0.0513 0.0994 0.0002 0.0473 0.0790 0.0873 0.0243 0.0597 0.0584 0.0489 0.1126 0.0006 0.0541 0.0679 0.0570 het 1714.19 129 20 44664493 . G T 1714.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.502;DP=129;Dels=0.00;FS=2.252;HRun=0;HaplotypeScore=4.2157;MQ=59.28;MQ0=0;MQRankSum=-0.796;QD=13.29;ReadPosRankSum=-0.767;VQSLOD=5.3161;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,63:129:99:1744,0,1665 20 44678348 44678348 G A exonic SLC12A5 synonymous SNV SLC12A5:NM_001134771:exon17:c.G2169A:p.A723A,SLC12A5:NM_020708:exon17:c.G2100A:p.A700A 0.99 0.95 1. 1. 1. 1. 0.9956 0.9518 0.9983 1 1 1.0000 0.9987 0.9999 0.98 0.95 1. 0.98 1. rs6032635 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9517 0.9978 1 1 1 0.9999 0.9988 0.9999 0.9849 0.9472 0.9988 1 1 1 0.9999 0.9969 hom 703.84 22 20 44678348 . G A 703.84 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.99;VQSLOD=13.6486;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:57.18:737,57,0 20 44691350 44691350 T G exonic NCOA5 synonymous SNV NCOA5:NM_001348148:exon7:c.A1014C:p.T338T,NCOA5:NM_020967:exon8:c.A1329C:p.T443T 0.4 0.29 0.49 0.57 0.35 0.36 0.3724 0.2612 0.5515 0.5907 0.2779 0.3393 0.3698 0.3743 0.3 0.26 0.32 0.36 0.3 rs1537028 COSM4416623 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3746 0.2591 0.5301 0.3328 0.5768 0.2745 0.3363 0.3751 0.3739 0.3164 0.2563 0.5060 0.3510 0.5675 0.2755 0.3222 0.3214 hom 5660.76 180 20 44691350 . T G 5660.76 Mask AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.00;MQ0=0;QD=31.45;VQSLOD=9.1064;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5660,460,0 20 44806643 44806643 G A exonic CDH22 synonymous SNV CDH22:NM_021248:exon11:c.C1857T:p.A619A 0.056 0.031 0.076 0.013 0.1 0.072 0.0977 0.0508 0.0568 0.0102 0.0911 0.1275 0.0939 0.0839 0.1 0.054 0.12 0.043 0.09 rs34603854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0944 0.0483 0.0596 0.1242 0.0093 0.0931 0.1240 0.1060 0.0849 0.0946 0.0473 0.0621 0.1391 0.0111 0.0931 0.1311 0.1166 het 609.19 57 20 44806643 . G A 609.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.944;DP=57;Dels=0.00;FS=5.552;HRun=0;HaplotypeScore=0.9947;MQ=60.00;MQ0=0;MQRankSum=-0.675;QD=10.69;ReadPosRankSum=-0.415;VQSLOD=5.2031;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,23:57:99:639,0,952 20 44806727 44806727 G A exonic CDH22 synonymous SNV CDH22:NM_021248:exon11:c.C1773T:p.S591S 0.057 0.034 0.076 0.013 0.1 0.073 0.0983 0.0528 0.0581 0.0100 0.0947 0.1276 0.0986 0.0842 0.1 0.054 0.12 0.043 0.098 rs35585191 COSM5619330 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0948 0.0504 0.0604 0.1243 0.0092 0.0935 0.1241 0.1074 0.0852 0.0950 0.0494 0.0621 0.1391 0.0111 0.0933 0.1306 0.1166 het 609.46 49 20 44806727 . G A 609.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.809;DP=49;Dels=0.00;FS=4.249;HRun=0;HaplotypeScore=3.5216;MQ=60.00;MQ0=0;MQRankSum=0.227;QD=12.44;ReadPosRankSum=-0.454;VQSLOD=5.1823;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,25:49:99:639,0,712 20 44996182 44996182 A G exonic ELMO2 synonymous SNV ELMO2:NM_182764:exon21:c.T1980C:p.D660D,ELMO2:NM_001318253:exon22:c.T1716C:p.D572D,ELMO2:NM_133171:exon22:c.T1980C:p.D660D 0.98 0.95 1. 1. 1. 1. 0.9950 0.9466 0.9978 0.9999 1 0.9997 0.9978 0.9999 0.98 0.95 1. 0.98 1. rs2257495 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9961 0.9465 0.9974 1 0.9999 1 0.9998 0.9987 0.9999 0.9858 0.9504 0.9976 1 1 1 0.9997 0.9969 hom 2532.15 89 20 44996182 . A G 2532.15 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.161;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9981;MQ=57.45;MQ0=0;MQRankSum=1.088;QD=28.45;ReadPosRankSum=-0.161;VQSLOD=6.4240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,85:89:99:2565,174,0 20 45133290 45133290 A G exonic ZNF334 synonymous SNV ZNF334:NM_018102:exon3:c.T111C:p.D37D,ZNF334:NM_001270497:exon4:c.T108C:p.D36D 0.0062 0.0098 0.0058 . 0.0099 0.0041 0.0077 0.0035 0.0064 0 0.0033 0.0112 0.0078 0.0028 0.009 0.0023 0.012 0.033 . rs41283034 . . . . . . . . . . . . . . . . 0.004 0.112 B 0.004 0.093 B . . . 1 0.810 D . . . 3.09 0.084 T . . . . . . . . . . . . . . 0.422 0.135 6.802 0.688 0.085 0.048 0.104 N n 0.506 -0.091 0.001 0.079 0.563 0.310 0 -2.32 0.063 -0.789 0.047 1.032 0.654 0.000 0.063 0.999 0.750 0.129 0.001 . . . 0.0076 0.0025 0.0057 0.0017 0 0.0023 0.0127 0.0107 0.0028 0.0061 0.0028 0.0060 0 0 0.0023 0.0098 0.0051 het 1910.53 170 20 45133290 . A G 1910.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.716;DP=170;Dels=0.00;FS=1.206;HRun=0;HaplotypeScore=4.4799;MQ=59.29;MQ0=0;MQRankSum=0.876;QD=11.24;ReadPosRankSum=0.027;VQSLOD=5.7071;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:87,83:170:99:1941,0,2173 20 45204266 45204266 G A exonic SLC13A3 synonymous SNV SLC13A3:NM_001193339:exon9:c.C1128T:p.P376P,SLC13A3:NM_001193340:exon10:c.C1032T:p.P344P,SLC13A3:NM_001193342:exon10:c.C984T:p.P328P,SLC13A3:NM_022829:exon10:c.C1278T:p.P426P,SLC13A3:NM_001011554:exon11:c.C1137T:p.P379P 0.55 0.48 0.57 0.56 0.61 0.58 0.6221 0.5143 0.5936 0.5807 0.6664 0.6482 0.6147 0.6081 0.59 0.5 0.64 0.49 0.61 rs1880898 COSM4134602 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6063 0.4894 0.5629 0.6563 0.5708 0.6502 0.6318 0.6088 0.5891 0.6023 0.4982 0.5859 0.6833 0.5893 0.6560 0.6494 0.6276 het 374.27 37 20 45204266 . G A 374.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.851;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=-0.201;QD=10.12;ReadPosRankSum=-2.026;VQSLOD=6.0503;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,15:37:99:404,0,656 20 45315769 45315769 T C exonic TP53RK nonsynonymous SNV TP53RK:NM_033550:exon2:c.A385G:p.T129A 0.027 0.0023 0.035 0.001 0.09 0.018 0.0661 0.0178 0.0235 0.0001 0.0911 0.0989 0.0610 0.0174 0.07 0.017 0.097 0.065 0.057 rs11550540 . . . . . . . . . . . . . 0.542 0.067 T 0.007 0.131 B 0.011 0.145 B 0.024 0.263 N 0.826 0.348 D 0.1 0.085 N 2.02 0.211 T -0.78 0.216 N 0.008 0.000 -0.984 0.340 T 0.001 0.003 T . . . -1.313 0.022 0.004 0.383 0.026 0.707 0.344 D c -0.746 -0.613 1.000 0.441 0.707 0.730 0 3.0 0.336 1.557 0.357 1.061 0.807 1.000 0.715 0.985 0.512 3.869 0.085 Protein kinase domain|Protein kinase-like domain . . 0.0638 0.0160 0.0285 0.0383 5.798e-05 0.0940 0.0998 0.0682 0.0164 0.0692 0.0181 0.0370 0.0265 0 0.0925 0.1026 0.0855 het 3107.49 242 20 45315769 . T C 3107.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.341;DP=242;Dels=0.00;FS=3.639;HRun=0;HaplotypeScore=6.4369;MQ=59.40;MQ0=0;MQRankSum=1.071;QD=12.84;ReadPosRankSum=-0.555;VQSLOD=4.8771;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,119:242:99:3137,0,3095 20 45853037 45853037 A G exonic ZMYND8 synonymous SNV ZMYND8:NM_001281771:exon18:c.T2733C:p.T911T,ZMYND8:NM_001281776:exon18:c.T2808C:p.T936T,ZMYND8:NM_001281781:exon18:c.T2835C:p.T945T,ZMYND8:NM_001281782:exon18:c.T2895C:p.T965T,ZMYND8:NM_001281784:exon18:c.T2973C:p.T991T,ZMYND8:NM_001281775:exon19:c.T3189C:p.T1063T,ZMYND8:NM_001281777:exon19:c.T2976C:p.T992T,ZMYND8:NM_001281778:exon19:c.T3114C:p.T1038T,ZMYND8:NM_001281783:exon19:c.T3189C:p.T1063T,ZMYND8:NM_012408:exon19:c.T3051C:p.T1017T,ZMYND8:NM_183047:exon19:c.T3051C:p.T1017T,ZMYND8:NM_183048:exon19:c.T2976C:p.T992T,ZMYND8:NM_001281773:exon20:c.T3129C:p.T1043T,ZMYND8:NM_001281774:exon20:c.T2991C:p.T997T,ZMYND8:NM_001281779:exon20:c.T2247C:p.T749T,ZMYND8:NM_001281780:exon20:c.T2247C:p.T749T,ZMYND8:NM_001281772:exon21:c.T3129C:p.T1043T 0.9 0.96 0.88 0.94 0.85 0.83 0.8668 0.9329 0.8455 0.9361 0.8557 0.8587 0.8711 0.8407 0.88 0.93 0.86 0.89 0.89 rs2664544 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8647 0.9335 0.8458 0.8549 0.9360 0.8574 0.8593 0.8649 0.8392 0.8877 0.9293 0.8600 0.8642 0.9425 0.8471 0.8682 0.8992 hom 8427.75 250 20 45853037 . A G 8427.75 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6549;MQ=59.07;MQ0=0;QD=33.71;VQSLOD=7.7585;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8427,653,0 20 46279815 46279823 GCAGCAGCA - exonic NCOA3 nonframeshift deletion NCOA3:NM_001174087:exon20:c.3738_3746del:p.Q1273_Q1275del,NCOA3:NM_001174088:exon20:c.3714_3722del:p.Q1265_Q1267del,NCOA3:NM_006534:exon20:c.3729_3737del:p.Q1270_Q1272del,NCOA3:NM_181659:exon20:c.3741_3749del:p.Q1274_Q1276del . . . . . . 0.1002 0.0208 0.0637 0.0671 0.1535 0.1214 0.1134 0.0848 0.18 0.17 0.19 . . rs751385560 COSM1483713 1(breast);2(stomach);1(lung);4(upper_aerodigestive_tract);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0944 0.0177 0.0603 0.1149 0.0635 0.1445 0.1118 0.1041 0.0817 0.0950 0.0236 0.0642 0.1284 0.0688 0.1544 0.1233 0.1398 het 2482.88 130 20 46279814 . TGCAGCAGCA T 2482.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.518;DP=130;FS=2.926;HRun=0;HaplotypeScore=1056.3908;MQ=57.00;MQ0=0;MQRankSum=-0.812;QD=19.10;ReadPosRankSum=-0.219;set=variant2 GT:AD:DP:GQ:PL 0/1:92,38:130:99:2522,0,4181 20 46365571 46365571 A G exonic SULF2 synonymous SNV SULF2:NM_001161841:exon3:c.T291C:p.T97T,SULF2:NM_018837:exon3:c.T291C:p.T97T,SULF2:NM_198596:exon3:c.T291C:p.T97T 0.66 0.83 0.58 0.62 0.56 0.6 0.6142 0.7922 0.5621 0.6408 0.5229 0.5982 0.6057 0.6262 0.67 0.78 0.61 0.64 0.56 rs3810526 COSM3758610 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6062 0.7962 0.5702 0.5312 0.6360 0.5243 0.6038 0.6092 0.6254 0.6464 0.7967 0.5668 0.5960 0.6485 0.5418 0.5931 0.5754 het 1838.70 136 20 46365571 . A G 1838.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.193;DP=136;Dels=0.00;FS=2.245;HRun=1;HaplotypeScore=3.4653;MQ=59.34;MQ0=0;MQRankSum=0.779;QD=13.52;ReadPosRankSum=2.019;VQSLOD=5.7551;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:63,72:136:99:1869,0,1734 20 47253043 47253043 G A exonic PREX1 synonymous SNV PREX1:NM_020820:exon32:c.C4125T:p.G1375G 0.1 0.14 0.086 0.061 0.12 0.083 0.1115 0.1449 0.0591 0.0702 0.1203 0.1221 0.1415 0.1099 0.11 0.12 0.11 0.15 0.14 rs11553083 COSM1412278;COSM1412279 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1056 0.1342 0.0607 0.0752 0.0685 0.1199 0.1217 0.1089 0.1095 0.1159 0.1365 0.0632 0.0927 0.0722 0.1086 0.1148 0.0990 het 412.35 37 20 47253043 . G A 412.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.732;DP=37;Dels=0.00;FS=7.203;HRun=0;HaplotypeScore=2.3983;MQ=57.37;MQ0=0;MQRankSum=0.504;QD=11.14;ReadPosRankSum=0.636;VQSLOD=4.1006;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,18:37:99:442,0,286 20 47253150 47253150 T C exonic PREX1 nonsynonymous SNV PREX1:NM_020820:exon32:c.A4018G:p.K1340E 0.99 1. 0.99 1. 0.96 1. 0.9775 0.9934 0.9955 1 0.9191 0.9692 0.9711 0.9973 0.98 0.99 0.98 1. 0.85 rs2664521 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.396 N 0.983 0.249 P -2.14 0.001 N 1.81 0.252 T 2.17 0.003 N 0.066 0.447 -0.953 0.405 T 0.000 0.000 T . . . 1.452 0.237 13.06 0.614 0.065 0.116 0.165 N c -0.806 -0.491 1.000 0.747 0.758 0.990 0 4.57 0.557 5.855 0.690 0.066 0.173 1.000 0.715 0.987 0.523 13.122 0.586 . . . 0.9772 0.9943 0.9949 0.9928 0.9999 0.9204 0.9696 0.9802 0.9976 0.9705 0.9943 0.9833 0.9967 1 0.9233 0.9646 0.95 hom 788.56 27 20 47253150 . T C 788.56 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.49;MQ0=0;QD=29.21;VQSLOD=7.7285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:72.18:822,72,0 20 47307618 47307618 G A exonic PREX1 synonymous SNV PREX1:NM_020820:exon9:c.C1053T:p.N351N 0.29 0.58 0.18 0.096 0.2 0.24 0.2035 0.5162 0.1259 0.0882 0.1468 0.1750 0.2434 0.2570 0.29 0.5 0.18 0.29 0.24 rs3746820 COSM149193;COSM3758612 1(stomach);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1954 0.5175 0.1276 0.1679 0.0891 0.1587 0.1799 0.1961 0.2601 0.2600 0.5077 0.1504 0.1689 0.0965 0.1440 0.1735 0.1847 het 725.82 90 20 47307618 . G A 725.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.250;DP=90;Dels=0.00;FS=3.243;HRun=0;HaplotypeScore=1.8938;MQ=59.33;MQ0=0;MQRankSum=-1.184;QD=8.06;ReadPosRankSum=-1.084;VQSLOD=5.2588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,35:90:99:756,0,1442 20 47630449 47630449 C T exonic ARFGEF2 synonymous SNV ARFGEF2:NM_006420:exon30:c.C4131T:p.I1377I 0.21 0.042 0.28 0.39 0.13 0.28 0.1899 0.0633 0.3889 0.3828 0.1482 0.1378 0.1751 0.2572 0.11 0.067 0.14 0.27 0.12 rs2281582 COSM149194 1(stomach);1(thyroid) other|Likely benign not_specified|Periventricular_Heterotopia RCV000116403.3|RCV000398167.1 MedGen|MedGen CN169374|C2678104 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1978 0.0643 0.3768 0.0745 0.3806 0.1490 0.1401 0.1707 0.2560 0.1365 0.0616 0.3270 0.0563 0.3700 0.1584 0.1389 0.1680 het 2268.25 169 20 47630449 . C T 2268.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.790;DP=169;Dels=0.00;FS=1.235;HRun=1;HaplotypeScore=1.9713;MQ=59.64;MQ0=0;MQRankSum=-1.294;QD=13.42;ReadPosRankSum=-0.851;VQSLOD=6.1581;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,85:169:99:2298,0,2086 20 47850182 47850182 C T exonic DDX27 synonymous SNV DDX27:NM_017895:exon11:c.C1302T:p.F434F,DDX27:NM_001348187:exon12:c.C1395T:p.F465F 0.61 0.53 0.65 0.53 0.76 0.61 0.6969 0.5438 0.5503 0.5611 0.8007 0.7739 0.7081 0.6141 0.7 0.55 0.77 0.54 0.81 rs238148 COSM4134622 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6961 0.5398 0.5566 0.7956 0.5614 0.8027 0.7714 0.7219 0.6146 0.6970 0.5469 0.5871 0.8113 0.5484 0.7901 0.7784 0.7561 het 2633.35 201 20 47850182 . C T 2633.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.299;DP=201;DS;Dels=0.00;FS=1.131;HRun=2;HaplotypeScore=4.0107;MQ=59.37;MQ0=0;MQRankSum=-0.799;QD=13.10;ReadPosRankSum=0.833;VQSLOD=5.8880;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,100:201:99:2663,0,2783 20 47865372 47865372 G A exonic ZNFX1 synonymous SNV ZNFX1:NM_021035:exon14:c.C4189T:p.L1397L 0.78 0.94 0.7 0.62 0.84 0.71 0.7909 0.9209 0.5861 0.6309 0.8387 0.8377 0.7985 0.7276 0.86 0.92 0.84 0.74 0.87 rs238208 COSM4415851;COSM4415850 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7819 0.9194 0.5998 0.8870 0.6311 0.8369 0.8344 0.8034 0.7291 0.8442 0.9207 0.6487 0.8940 0.6430 0.8241 0.838 0.8116 het 2018.57 177 20 47865372 . G A 2018.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.833;DP=177;Dels=0.00;FS=2.648;HRun=1;HaplotypeScore=1.8308;MQ=59.35;MQ0=0;MQRankSum=-1.226;QD=11.40;ReadPosRankSum=1.089;VQSLOD=6.0688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:99,77:177:99:2049,0,2697 20 47865509 47865509 G A exonic ZNFX1 nonsynonymous SNV ZNFX1:NM_021035:exon14:c.C4052T:p.T1351I 0.6 0.51 0.64 0.53 0.76 0.6 0.6951 0.5235 0.5490 0.5611 0.8007 0.7737 0.7070 0.6152 0.69 0.53 0.77 0.53 0.8 rs238209 COSM4134623;COSM4134624 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.062 0.221 N 1 0.327 P 0.465 0.131 N -2.16 0.866 D -0.09 0.084 N 0.018 0.003 -0.954 0.402 T 0.000 0.000 T . . . -0.630 0.048 0.106 0.824 0.137 0.650 0.323 D c -0.833 -0.638 0.999 0.374 0.646 0.442 0 0.723 0.173 1.405 0.340 -0.097 0.117 0.981 0.351 0.994 0.587 5.609 0.166 . ENSG00000124207.12|ENSG00000124207.12 Muscle_Skeletal|Thyroid 0.6947 0.5199 0.5555 0.7938 0.5618 0.8027 0.7712 0.7208 0.6155 0.6917 0.5278 0.5861 0.8113 0.5484 0.7903 0.7787 0.7531 het 2391.51 194 20 47865509 . G A 2391.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.749;DP=194;Dels=0.00;FS=0.536;HRun=0;HaplotypeScore=9.0123;MQ=59.88;MQ0=0;MQRankSum=0.287;QD=12.33;ReadPosRankSum=-0.380;VQSLOD=4.3575;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,97:194:99:2422,0,2725 20 47872377 47872377 C G exonic ZNFX1 nonsynonymous SNV ZNFX1:NM_021035:exon9:c.G2772C:p.Q924H 0.57 0.53 0.61 0.46 0.75 0.51 0.6729 0.5517 0.5110 0.5053 0.7897 0.7604 0.6770 0.5490 0.69 0.56 0.75 0.52 0.79 rs238221 COSM4415669;COSM4415671;COSM4415670 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.143 0.270 T 0.0 0.026 B 0.004 0.093 B 0.003 0.349 N 0.717 0.299 P 1.5 0.380 L 1.96 0.866 T -1.19 0.309 N 0.129 0.551 -0.942 0.424 T 0.000 0.000 T . . . 4.132 0.554 23.8 0.978 0.355 0.671 0.330 D c -0.349 -0.188 0.999 0.386 0.707 0.730 0 2.34 0.279 -0.019 0.124 0.935 0.490 0.962 0.335 0.999 0.750 4.986 0.134 P-loop containing nucleoside triphosphate hydrolase ENSG00000177410.8|ENSG00000124207.12|ENSG00000124207.12|ENSG00000177410.8 Cells_Transformed_fibroblasts|Muscle_Skeletal|Thyroid|Whole_Blood 0.6719 0.5463 0.5213 0.7875 0.5124 0.7931 0.7570 0.6977 0.5501 0.6880 0.5551 0.5574 0.8079 0.5056 0.7811 0.7648 0.7342 het 1402.21 134 20 47872377 . C G 1402.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.520;DP=134;Dels=0.00;FS=0.682;HRun=1;HaplotypeScore=3.3618;MQ=58.99;MQ0=0;MQRankSum=-0.296;QD=10.46;ReadPosRankSum=-0.612;VQSLOD=5.5012;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,54:134:99:1432,0,2133 20 47886684 47886684 G A exonic ZNFX1 synonymous SNV ZNFX1:NM_021035:exon3:c.C1665T:p.Y555Y 0.78 0.94 0.71 0.62 0.84 0.71 0.7911 0.9226 0.5854 0.6308 0.8387 0.8378 0.8002 0.7281 0.86 0.92 0.84 0.74 0.87 rs57950 COSM4415517;COSM4415515;COSM4415516;COSM4415518 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7821 0.9210 0.6001 0.8868 0.6318 0.8368 0.8345 0.8038 0.7294 0.8445 0.9225 0.6468 0.8940 0.6393 0.8245 0.8381 0.8112 het 2176.57 195 20 47886684 . G A 2176.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.325;DP=195;Dels=0.00;FS=2.510;HRun=0;HaplotypeScore=7.9089;MQ=59.47;MQ0=0;MQRankSum=-0.167;QD=11.16;ReadPosRankSum=-0.526;VQSLOD=4.5722;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,90:195:99:2207,0,2562 20 47989527 47989527 C T exonic KCNB1 nonsynonymous SNV KCNB1:NM_004975:exon2:c.G2570A:p.S857N 0.0054 . 0.01 . 0.013 0.0072 0.0115 0.0015 0.0041 0.0003 0.0337 0.0126 0.0164 0.0164 0.0075 0.0018 0.011 . 0.016 rs34280195 . . Benign not_specified RCV000426573.1 MedGen CN169374 . . . . . . 0.005 0.632 D 0.985 0.592 D 0.711 0.527 P 0.902 0.086 N 0.772 0.342 D 0.975 0.246 L -4.79 0.982 D -0.53 0.164 N 0.013 0.002 0.720 0.934 D 0.903 0.968 D . . . 1.890 0.288 15.53 0.989 0.484 0.906 0.517 D c 0.217 0.131 0.996 0.346 0.554 0.283 0 3.11 0.347 1.918 0.394 0.935 0.490 1.000 0.715 0.849 0.354 9.000 0.351 . . . 0.0104 0.0012 0.0039 0.0080 0.0001 0.0317 0.0110 0.0078 0.0112 0.0091 0.0023 0.0036 0.0099 0 0.0261 0.0103 0.0123 het 366.58 32 20 47989527 . C T 366.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.776;DP=32;Dels=0.00;FS=4.959;HRun=1;HaplotypeScore=0.5784;MQ=59.28;MQ0=0;MQRankSum=0.755;QD=11.46;ReadPosRankSum=-0.076;VQSLOD=5.8735;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,15:32:99:397,0,525 20 47990250 47990250 G C exonic KCNB1 nonsynonymous SNV KCNB1:NM_004975:exon2:c.C1847G:p.T616S 0.0096 . 0.016 . 0.022 0.015 0.0162 0.0032 0.0072 0.0002 0.0325 0.0197 0.0221 0.0185 0.014 0.0039 0.02 . 0.016 rs2229006 . . Benign not_specified RCV000444175.1 MedGen CN169374 . . . . . . 0.712 0.040 T 0.0 0.026 B 0.001 0.040 B 0.297 0.039 N 1 0.090 N 0 0.065 N 2.02 0.211 T 0.44 0.033 N 0.018 0.003 -1.018 0.243 T 0.015 0.060 T . . . -1.200 0.025 0.007 0.277 0.014 0.295 0.236 N c -0.641 -0.491 0.999 0.377 0.615 0.372 0 5.01 0.663 4.959 0.631 1.048 0.713 0.901 0.312 0.984 0.507 9.419 0.375 . . . 0.0175 0.0028 0.0085 0.0287 0.0001 0.0366 0.0197 0.0166 0.0191 0.0153 0.0040 0.0107 0.0298 0 0.0318 0.0191 0.0235 het 637.47 56 20 47990250 . G C 637.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.059;DP=56;Dels=0.00;FS=3.715;HRun=0;HaplotypeScore=2.9114;MQ=59.09;MQ0=0;MQRankSum=-0.363;QD=11.38;ReadPosRankSum=0.414;VQSLOD=5.3018;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,25:56:99:667,0,866 20 48129706 48129706 G T exonic PTGIS synonymous SNV PTGIS:NM_000961:exon8:c.C1117A:p.R373R 0.22 0.12 0.27 0.23 0.26 0.26 0.2491 0.1351 0.3063 0.2225 0.2156 0.2540 0.2676 0.2871 0.22 0.13 0.26 0.22 0.22 rs5629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2532 0.1328 0.3139 0.3442 0.2200 0.2069 0.2480 0.2691 0.2858 0.2094 0.1345 0.3150 0.3245 0.2246 0.2263 0.2338 0.2908 het 1315.39 109 20 48129706 . G T 1315.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.967;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8302;MQ=59.83;MQ0=0;MQRankSum=-0.039;QD=12.07;ReadPosRankSum=0.106;VQSLOD=6.4325;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,51:109:99:1345,0,1493 20 48140682 48140682 C T exonic PTGIS synonymous SNV PTGIS:NM_000961:exon6:c.G768A:p.L256L 0.12 0.2 0.12 0.1 0.065 0.1 0.0812 0.1671 0.1225 0.0925 0.0748 0.0577 0.0817 0.0895 0.093 0.15 0.061 0.2 0.082 rs5628 COSM149196 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0818 0.1685 0.1160 0.0479 0.0959 0.0785 0.0595 0.0771 0.0889 0.0910 0.1597 0.1110 0.0563 0.0882 0.0690 0.0573 0.0704 het 1573.94 128 20 48140682 . C T 1573.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.484;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0396;MQ=59.82;MQ0=0;MQRankSum=-0.155;QD=12.30;ReadPosRankSum=0.226;VQSLOD=5.9065;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,60:128:99:1604,0,1983 20 48257149 48257149 C T exonic B4GALT5 synonymous SNV B4GALT5:NM_004776:exon6:c.G660A:p.E220E 0.81 0.79 0.76 0.83 0.8 0.86 0.8044 0.8056 0.7367 0.8231 0.7532 0.8029 0.8106 0.8678 0.81 0.82 0.81 0.81 0.81 rs421801 COSM5619027 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8024 0.8054 0.7329 0.8680 0.8265 0.7607 0.8025 0.8085 0.8705 0.7855 0.8076 0.7542 0.8676 0.8321 0.7507 0.7783 0.7480 hom 2070.58 63 20 48257149 . C T 2070.58 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;QD=32.87;VQSLOD=8.9180;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2104,166,0 20 48259034 48259034 A G exonic B4GALT5 synonymous SNV B4GALT5:NM_004776:exon5:c.T577C:p.L193L 0.45 0.27 0.44 0.39 0.55 0.64 0.5121 0.3067 0.4460 0.3778 0.4973 0.5405 0.5166 0.6487 0.48 0.33 0.55 0.42 0.57 rs2235855 COSM3766626 1(breast);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5138 0.2960 0.4444 0.5234 0.3718 0.5129 0.5472 0.5228 0.6523 0.4450 0.2973 0.4797 0.5430 0.3622 0.4974 0.5219 0.4755 het 1650.43 103 20 48259034 . A G 1650.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.243;DP=103;Dels=0.00;FS=9.473;HRun=1;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;MQRankSum=0.597;QD=16.02;ReadPosRankSum=1.163;VQSLOD=4.4593;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,59:103:99:1680,0,1201 20 48491258 48491258 T G exonic SLC9A8 synonymous SNV SLC9A8:NM_001260491:exon11:c.T1023G:p.L341L,SLC9A8:NM_015266:exon11:c.T975G:p.L325L 0.82 0.8 0.83 0.84 0.8 0.86 0.8105 0.7933 0.8433 0.8381 0.8296 0.7950 0.8216 0.8384 0.79 0.79 0.79 0.78 0.83 rs542234 COSM4001935;COSM4001934 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8114 0.7929 0.8453 0.7019 0.8342 0.8366 0.7976 0.8087 0.8379 0.8075 0.7988 0.8477 0.7318 0.8300 0.8308 0.8053 0.7882 hom 5163.44 155 20 48491258 . T G 5163.44 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.710;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;MQRankSum=-0.503;QD=33.31;ReadPosRankSum=-1.553;VQSLOD=9.0196;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,154:155:99:5163,397,0 20 48522330 48522330 G A exonic SPATA2 synonymous SNV SPATA2:NM_001135773:exon3:c.C1389T:p.C463C,SPATA2:NM_006038:exon3:c.C1389T:p.C463C 0.36 0.099 0.46 0.34 0.4 0.61 0.4312 0.1250 0.5260 0.3501 0.5598 0.4235 0.4493 0.5788 0.32 0.14 0.41 0.3 0.49 rs495337 COSM3758623 1(thyroid);1(large_intestine) . . . . . Psoriasis 0.83 . 20953189 rs495337 2E-7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4380 0.1196 0.5073 0.3267 0.3460 0.5588 0.4228 0.4442 0.5749 0.3644 0.1190 0.5036 0.3576 0.3362 0.5661 0.4477 0.4867 hom 3290.64 112 20 48522330 . G A 3290.64 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6208;MQ=58.15;MQ0=0;QD=29.38;VQSLOD=7.8191;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3290,280,0 20 48522585 48522585 G A exonic SPATA2 synonymous SNV SPATA2:NM_001135773:exon3:c.C1134T:p.S378S,SPATA2:NM_006038:exon3:c.C1134T:p.S378S 0.49 0.12 0.58 0.77 0.45 0.66 0.5175 0.1664 0.6745 0.7866 0.5978 0.4760 0.5266 0.6200 0.37 0.18 0.46 0.41 0.51 rs492702 COSM3758624 1(liver);1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5252 0.1603 0.6518 0.3853 0.7820 0.5989 0.4735 0.5226 0.6146 0.4343 0.1641 0.6169 0.4040 0.7689 0.6053 0.4993 0.5390 hom 2933.04 91 20 48522585 . G A 2933.04 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.75;MQ0=0;QD=32.23;VQSLOD=8.9915;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2966,232,0 20 48524827 48524827 A G exonic SPATA2 synonymous SNV SPATA2:NM_001135773:exon2:c.T201C:p.Y67Y,SPATA2:NM_006038:exon2:c.T201C:p.Y67Y 0.49 0.13 0.58 0.77 0.45 0.66 0.5141 0.1742 0.6731 0.7868 0.5957 0.4714 0.5220 0.6131 0.37 0.19 0.46 0.42 0.56 rs2769982 COSM3758625 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5241 0.1698 0.6501 0.3669 0.7821 0.5967 0.4709 0.5193 0.6096 0.4361 0.1739 0.6199 0.3841 0.7682 0.6050 0.4977 0.5399 hom 4413.24 139 20 48524827 . A G 4413.24 Mask AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9863;MQ=59.82;MQ0=0;QD=31.75;VQSLOD=7.7096;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:139:99:4412,367,0 20 48746189 48746189 C T exonic TMEM189;TMEM189-UBE2V1 synonymous SNV TMEM189:NM_001162505:exon4:c.G363A:p.P121P,TMEM189:NM_199129:exon4:c.G372A:p.P124P,TMEM189-UBE2V1:NM_199203:exon4:c.G372A:p.P124P 0.29 0.32 0.26 0.25 0.29 0.3 0.2789 0.3107 0.2330 0.2720 0.2690 0.2683 0.3097 0.3392 0.28 0.3 0.27 0.23 0.25 rs6122878 COSM3758629;COSM3758630 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2770 0.3151 0.2366 0.2761 0.2703 0.2676 0.2691 0.2829 0.3395 0.2834 0.3113 0.2470 0.3146 0.2575 0.2876 0.2702 0.2869 het 1041.43 103 20 48746189 . C T 1041.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.045;DP=103;Dels=0.00;FS=6.722;HRun=1;HaplotypeScore=3.4709;MQ=59.37;MQ0=0;MQRankSum=-0.834;QD=10.11;ReadPosRankSum=-0.175;VQSLOD=4.6171;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,39:103:99:1071,0,1541 20 49214156 49214156 A G exonic RIPOR3 nonsynonymous SNV RIPOR3:NM_001290268:exon14:c.T1751C:p.L584P,RIPOR3:NM_080829:exon14:c.T1739C:p.L580P 0.7 0.73 0.68 0.7 0.71 0.65 0.7094 0.7392 0.6567 0.7239 0.6703 0.7181 0.6894 0.6983 0.72 0.73 0.71 0.81 0.61 rs6020624 . . . . . . . . . . . . . 0.448 0.090 T 0.0 0.026 B 0.0 0.013 B 0.485 0.121 N 1 0.090 P -2.095 0.002 N 2.58 0.134 T 1.72 0.006 N 0.026 0.068 -1.056 0.128 T 0.000 0.000 T . . . -0.103 0.084 1.704 0.172 0.005 0.000 0.003 N c -1.336 -1.252 0.996 0.347 0.646 0.450 0 1.11 0.195 1.634 0.365 -0.304 0.080 0.008 0.178 0.001 0.043 4.955 0.133 . . . 0.6888 0.7209 0.6455 0.8151 0.7022 0.6337 0.6963 0.6976 0.6822 0.6856 0.7271 0.6885 0.8113 0.7163 0.6403 0.6670 0.6704 het 36.22 21 20 49214156 . A G 36.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.179;DP=21;Dels=0.00;FS=2.754;HRun=3;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;MQRankSum=-0.289;QD=1.72;ReadPosRankSum=-0.454;VQSLOD=2.3616;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,5:21:66.21:66,0,427 20 49509184 49509184 G A exonic ADNP synonymous SNV ADNP:NM_001282532:exon4:c.C2067T:p.G689G,ADNP:NM_181442:exon4:c.C2067T:p.G689G,ADNP:NM_001347511:exon5:c.C2067T:p.G689G,ADNP:NM_015339:exon5:c.C2067T:p.G689G,ADNP:NM_001282531:exon6:c.C2067T:p.G689G 0.1 0.17 0.065 0.099 0.066 0.088 0.0823 0.1301 0.0818 0.0985 0.0562 0.0725 0.0881 0.0936 0.095 0.13 0.079 0.13 0.16 rs17790938 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0816 0.1298 0.0820 0.0648 0.0988 0.0576 0.0748 0.0825 0.0952 0.0887 0.1384 0.1002 0.0397 0.0946 0.0568 0.0673 0.0825 hom 4359.69 140 20 49509184 . G A 4359.69 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7084;MQ=59.15;MQ0=0;QD=31.14;VQSLOD=8.7007;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:140:99:4359,358,0 20 49620783 49620783 G T exonic KCNG1 synonymous SNV KCNG1:NM_002237:exon3:c.C1335A:p.I445I 0.64 0.3 0.84 0.66 0.85 0.73 0.7679 0.3984 0.8020 0.6241 0.8078 0.8433 0.8091 0.7287 0.69 0.41 0.84 0.55 0.81 rs1054268 COSM1412447 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7739 0.3889 0.7948 0.8436 0.6198 0.8090 0.8404 0.8174 0.7318 0.6946 0.3875 0.8270 0.8411 0.6208 0.8093 0.8376 0.7955 hom 6240.20 209 20 49620783 . G T 6240.20 Mask AC=2;AF=1.00;AN=2;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3841;MQ=59.05;MQ0=0;QD=29.86;VQSLOD=7.8240;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,209:209:99:6239,511,0 20 49621149 49621149 T C exonic KCNG1 synonymous SNV KCNG1:NM_002237:exon3:c.A969G:p.A323A 0.65 0.33 0.84 0.66 0.85 0.73 0.7885 0.4774 0.8130 0.6668 0.8285 0.8501 0.8300 0.7395 0.71 0.45 0.84 0.43 0.52 rs6122993 COSM3758631 1(thyroid);5(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7749 0.4065 0.7944 0.8463 0.6194 0.8066 0.8381 0.8188 0.7320 0.7024 0.4120 0.8294 0.8411 0.6248 0.8092 0.8379 0.7971 hom 291.73 12 20 49621149 . T C 291.73 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=24.31;VQSLOD=12.5188;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:24.08:325,24,0 20 50092027 50092027 T G exonic NFATC2 synonymous SNV NFATC2:NM_001136021:exon4:c.A1443C:p.I481I,NFATC2:NM_001258292:exon4:c.A1443C:p.I481I,NFATC2:NM_001258294:exon4:c.A846C:p.I282I,NFATC2:NM_001258295:exon4:c.A846C:p.I282I,NFATC2:NM_001258296:exon4:c.A846C:p.I282I,NFATC2:NM_001258297:exon4:c.A846C:p.I282I,NFATC2:NM_012340:exon4:c.A1503C:p.I501I,NFATC2:NM_173091:exon4:c.A1503C:p.I501I 0.52 0.78 0.49 0.35 0.44 0.45 0.4758 0.7421 0.5335 0.3813 0.3239 0.4636 0.4174 0.4297 0.56 0.73 0.47 0.67 0.49 rs6013193 COSM4001940;COSM5461339;COSM4001941 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4701 0.7467 0.5216 0.5659 0.3794 0.3217 0.4628 0.4739 0.4301 0.5199 0.7382 0.4964 0.5633 0.3984 0.3245 0.4563 0.4547 het 2557.14 202 20 50092027 . T G 2557.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.817;DP=202;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.7767;MQ=58.89;MQ0=0;MQRankSum=2.145;QD=12.66;ReadPosRankSum=1.045;VQSLOD=5.2035;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,103:202:99:2587,0,2288 20 50140627 50140627 G C exonic NFATC2 synonymous SNV NFATC2:NM_001136021:exon2:c.C93G:p.V31V,NFATC2:NM_001258292:exon2:c.C93G:p.V31V,NFATC2:NM_012340:exon2:c.C153G:p.V51V,NFATC2:NM_173091:exon2:c.C153G:p.V51V 0.06 0.051 0.045 0.073 0.061 0.068 0.0569 0.0450 0.0393 0.0600 0.0555 0.0619 0.0481 0.0560 0.051 0.04 0.057 0.054 0.041 rs3746420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0559 0.0429 0.0364 0.0565 0.0593 0.0555 0.0611 0.0493 0.0563 0.0521 0.0426 0.0430 0.0662 0.0672 0.0470 0.0573 0.0530 het 704.89 56 20 50140627 . G C 704.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.851;DP=56;Dels=0.00;FS=15.129;HRun=1;HaplotypeScore=1.5317;MQ=59.67;MQ0=0;MQRankSum=1.846;QD=12.59;ReadPosRankSum=1.203;VQSLOD=2.8521;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,25:56:99:735,0,776 20 50287736 50287736 C T exonic ATP9A synonymous SNV ATP9A:NM_006045:exon12:c.G1098A:p.S366S 0.53 0.29 0.52 0.79 0.53 0.6 0.5286 0.3444 0.4936 0.8011 0.4949 0.5290 0.5353 0.5382 0.47 0.35 0.52 0.55 0.49 rs2255341 COSM3758634 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5303 0.3433 0.5010 0.5747 0.7961 0.4946 0.5251 0.5385 0.5354 0.4733 0.3426 0.4881 0.5662 0.7968 0.5003 0.5007 0.5439 het 1077.11 88 20 50287736 . C T 1077.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.220;DP=88;Dels=0.00;FS=4.043;HRun=4;HaplotypeScore=1.9988;MQ=59.48;MQ0=0;MQRankSum=0.141;QD=12.24;ReadPosRankSum=-0.422;VQSLOD=6.4363;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,41:88:99:1107,0,1275 20 50287790 50287790 A G exonic ATP9A synonymous SNV ATP9A:NM_006045:exon12:c.T1044C:p.R348R 0.7 0.51 0.7 0.8 0.79 0.78 0.7666 0.5722 0.6915 0.8035 0.8081 0.8063 0.7726 0.7450 0.73 0.59 0.8 0.69 0.79 rs2255342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7679 0.5685 0.7028 0.7934 0.7980 0.8108 0.8058 0.7765 0.7433 0.7391 0.5819 0.7153 0.8146 0.8005 0.8206 0.8003 0.8027 hom 2939.62 99 20 50287790 . A G 2939.62 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.73;MQ0=0;QD=29.69;VQSLOD=9.0647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2973,235,0 20 50405502 50405502 C G exonic SALL4 synonymous SNV SALL4:NM_001318031:exon3:c.G1329C:p.S443S,SALL4:NM_020436:exon3:c.G2640C:p.S880S 0.05 0.003 0.073 0.001 0.13 0.067 0.0897 0.0239 0.0397 0.0008 0.1019 0.1229 0.0996 0.0733 0.098 0.028 0.13 0.011 0.11 rs17802735 . . Benign|Benign\x2cLikely benign not_specified|SALL4-Related_Spectrum_Disorders\x2cSALL4-Related_Spectrum_Disorders RCV000248481.1|RCV000331207.1\x2cRCV000385764.1 MedGen|MedGen\x2cMedGen CN169374|CN239401\x2cCN239401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0919 0.0220 0.0477 0.0755 0.0005 0.1078 0.1313 0.0899 0.0773 0.0903 0.0217 0.0680 0.0662 0.0012 0.1139 0.1359 0.0949 hom 2524.37 76 20 50405502 . C G 2524.37 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9825;MQ=59.04;MQ0=0;QD=33.22;VQSLOD=9.3874;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2557,202,0 20 50407966 50407966 C T exonic SALL4 synonymous SNV SALL4:NM_001318031:exon2:c.G1056A:p.A352A,SALL4:NM_020436:exon2:c.G1056A:p.A352A 0.21 0.31 0.2 0.028 0.33 0.15 0.2522 0.3301 0.1282 0.0278 0.2384 0.3130 0.2611 0.1679 0.34 0.33 0.34 0.2 0.29 rs13038893 COSM3758636 1(large_intestine) Benign|Benign not_specified|SALL4-Related_Spectrum_Disorders RCV000252263.1|RCV000321370.1 MedGen|MedGen CN169374|CN239401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2469 0.3314 0.1408 0.2307 0.0299 0.2447 0.3232 0.2524 0.1713 0.2936 0.3236 0.1802 0.2086 0.0303 0.2483 0.3245 0.2770 hom 2844.09 88 20 50407966 . C T 2844.09 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6722;MQ=59.31;MQ0=0;QD=32.32;VQSLOD=9.5945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2877,235,0 20 50408482 50408482 A G exonic SALL4 synonymous SNV SALL4:NM_001318031:exon2:c.T540C:p.N180N,SALL4:NM_020436:exon2:c.T540C:p.N180N 1. 1. 1. 1. 1. 0.99 0.9965 0.9982 0.9992 1 0.9983 0.9953 1 0.9958 1. 1. 0.99 1. 1. rs6013281 . . Benign|Benign not_specified|SALL4-Related_Spectrum_Disorders RCV000253657.1|RCV000404836.1 MedGen|MedGen CN169374|CN239401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9979 0.9993 0.9941 0.9999 0.9989 0.9952 0.9954 0.9952 0.9967 0.9976 0.9988 0.9901 1 0.9991 0.9953 0.9980 hom 7954.29 250 20 50408482 . A G 7954.29 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8255;MQ=59.72;MQ0=0;QD=31.82;VQSLOD=8.4142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7953,686,0 20 51870336 51870336 G C exonic TSHZ2 nonsynonymous SNV TSHZ2:NM_001193421:exon2:c.G330C:p.R110S,TSHZ2:NM_173485:exon2:c.G339C:p.R113S 0.053 0.051 0.059 . 0.13 0.029 0.0848 0.0584 0.0484 0.0003 0.0988 0.1162 0.0815 0.0391 0.099 0.059 0.12 0.076 0.11 rs739869 . . . . . . . . . . . . . 0.524 0.071 T 0.006 0.126 B 0.01 0.139 B 0.000 0.629 D 1.000 0.189 P 0 0.065 N 2.65 0.127 T 0.91 0.016 N 0.041 0.021 -0.966 0.381 T 0.000 0.001 T . . . -1.205 0.025 0.006 0.464 0.037 0.822 0.411 D c -0.760 -0.681 0.946 0.276 0.554 0.246 0 1.09 0.194 0.491 0.220 0.147 0.235 0.916 0.316 0.038 0.155 7.722 0.277 . . . 0.0845 0.0592 0.0527 0.0962 0.0001 0.1048 0.1181 0.0939 0.0372 0.0921 0.0575 0.0597 0.0795 0.0006 0.0997 0.1212 0.1112 het 1422.81 97 20 51870336 . G C 1422.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.925;DP=97;Dels=0.00;FS=7.051;HRun=1;HaplotypeScore=1.4538;MQ=59.71;MQ0=0;MQRankSum=-1.454;QD=14.67;ReadPosRankSum=2.283;VQSLOD=3.7933;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,51:97:99:1453,0,1289 20 51870849 51870849 T C exonic TSHZ2 synonymous SNV TSHZ2:NM_001193421:exon2:c.T843C:p.F281F,TSHZ2:NM_173485:exon2:c.T852C:p.F284F 0.83 0.97 0.83 0.78 0.72 0.82 0.7674 0.9439 0.8670 0.7850 0.7097 0.7138 0.7434 0.8181 0.79 0.94 0.72 0.84 0.7 rs739870 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7653 0.9437 0.8522 0.6944 0.7803 0.7160 0.7160 0.7411 0.8155 0.7876 0.9386 0.8258 0.6854 0.7651 0.7087 0.7239 0.7347 het 1092.84 73 20 51870849 . T C 1092.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.786;DP=73;Dels=0.00;FS=0.893;HRun=0;HaplotypeScore=0.9332;MQ=59.37;MQ0=0;MQRankSum=0.079;QD=14.97;ReadPosRankSum=-0.102;VQSLOD=6.7342;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,40:73:99:1123,0,920 20 52573971 52573971 T G exonic BCAS1 nonsynonymous SNV BCAS1:NM_003657:exon10:c.A1416C:p.Q472H 0.13 0.026 0.14 0.14 0.19 0.2 0.1658 0.0445 0.0954 0.1230 0.1618 0.1909 0.1927 0.2124 0.14 0.046 0.19 0.076 0.16 rs35575210 COSM3736281 1(skin) . . . . . . . . . . . 0.004 0.654 D 0.496 0.352 P 0.178 0.341 B . . . 1e-37 0.810 P 1.79 0.469 L 2.01 0.213 T -2.65 0.567 D 0.05 0.245 -1.025 0.220 T 0.000 0.000 T . . . 2.413 0.351 18.90 0.997 0.830 0.744 0.361 D c 0.034 0.112 1.000 0.747 0.554 0.246 0 4.43 0.528 1.174 0.313 0.964 0.580 1.000 0.715 0.994 0.587 6.56 0.215 . . . 0.1640 0.0425 0.1053 0.1981 0.1219 0.1688 0.1869 0.1824 0.2115 0.1346 0.0469 0.1217 0.2252 0.1099 0.1654 0.1760 0.1945 het 948.92 75 20 52573971 . T G 948.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.703;DP=75;Dels=0.00;FS=1.057;HRun=0;HaplotypeScore=4.8865;MQ=56.76;MQ0=0;MQRankSum=0.822;QD=12.65;ReadPosRankSum=-1.182;VQSLOD=3.5873;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:36,39:75:99:979,0,958 20 52612549 52612549 C T exonic BCAS1 nonsynonymous SNV BCAS1:NM_001316361:exon5:c.G764A:p.G255E,BCAS1:NM_001323347:exon5:c.G764A:p.G255E,BCAS1:NM_003657:exon5:c.G764A:p.G255E 0.14 0.39 0.05 0.019 0.045 0.073 0.0711 0.3468 0.0367 0.0149 0.0463 0.0422 0.0624 0.0781 0.14 0.34 0.041 0.2 0.033 rs6022903 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.090 B 0.002 0.063 B 0.618 0.057 N 1 0.090 P -0.665 0.020 N 3.31 0.063 T -0.57 0.172 N 0.024 0.009 -0.929 0.443 T 0.000 0.000 T . . . -1.651 0.014 0.002 0.524 0.047 0.034 0.084 N c -1.407 -1.323 1.000 0.473 0.638 0.428 0 0.43 0.157 0.780 0.262 -0.912 0.026 0.001 0.137 0.000 0.016 2.659 0.047 . . . 0.0621 0.3507 0.0356 0.0130 0.0150 0.0452 0.0419 0.0538 0.0757 0.1249 0.3397 0.0573 0.0099 0.0167 0.0478 0.0406 0.0542 het 878.26 77 20 52612549 . C T 878.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.427;DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;MQRankSum=0.476;QD=11.41;ReadPosRankSum=-1.499;VQSLOD=6.4164;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,35:77:99:908,0,1143 20 52781091 52781091 C T exonic CYP24A1 synonymous SNV CYP24A1:NM_000782:exon6:c.G744A:p.T248T,CYP24A1:NM_001128915:exon6:c.G744A:p.T248T 0.17 0.03 0.12 0.39 0.12 0.2 0.1229 0.0413 0.1006 0.3670 0.0732 0.1041 0.1156 0.1589 0.084 0.046 0.1 0.15 0.09 rs6068816 . . Benign Infantile_hypercalcemia RCV000345662.1 Human_Phenotype_Ontology:MedGen HP:0008250:C0475732 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1232 0.0392 0.1038 0.1192 0.3674 0.0734 0.1038 0.1070 0.1595 0.0903 0.0415 0.1041 0.1067 0.3377 0.0619 0.0976 0.0916 het 2628.01 175 20 52781091 . C T 2628.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.781;DP=175;DS;Dels=0.00;FS=2.094;HRun=0;HaplotypeScore=2.8907;MQ=59.68;MQ0=0;MQRankSum=1.322;QD=15.02;ReadPosRankSum=0.977;VQSLOD=6.1093;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,97:175:99:2658,0,1870 20 54961463 54961463 T C exonic AURKA nonsynonymous SNV AURKA:NM_003600:exon3:c.A169G:p.I57V,AURKA:NM_198435:exon3:c.A169G:p.I57V,AURKA:NM_198437:exon3:c.A169G:p.I57V,AURKA:NM_001323303:exon4:c.A169G:p.I57V,AURKA:NM_001323304:exon4:c.A169G:p.I57V,AURKA:NM_198434:exon4:c.A169G:p.I57V,AURKA:NM_198436:exon4:c.A169G:p.I57V,AURKA:NM_001323305:exon5:c.A169G:p.I57V,AURKA:NM_198433:exon5:c.A169G:p.I57V 0.85 0.83 0.89 0.88 0.82 0.85 0.8482 0.8394 0.9225 0.8776 0.8069 0.8341 0.8194 0.8613 0.84 0.84 0.84 0.83 0.73 rs1047972 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.023 0.265 N 1 0.090 P . . . -0.1 0.689 T -0.01 0.076 N 0.023 0.208 -0.937 0.431 T 0.000 0.000 T . . . -2.027 0.008 0.001 0.209 0.008 0.013 0.044 N c -1.373 -1.366 1.000 0.747 0.707 0.730 0 1.97 0.252 -0.556 0.060 -0.915 0.026 0.000 0.063 0.069 0.175 6.629 0.219 . . . 0.8506 0.8392 0.9160 0.8541 0.8789 0.8071 0.8348 0.8365 0.8588 0.8413 0.8405 0.8986 0.8676 0.8881 0.8129 0.8406 0.8262 hom 6123.04 207 20 54961463 . T C 6123.04 Mask AC=2;AF=1.00;AN=2;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8209;MQ=58.13;MQ0=0;QD=29.58;VQSLOD=4.7512;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,207:207:99:6121,523,0 20 55012318 55012318 G A exonic CASS4 synonymous SNV CASS4:NM_001164114:exon2:c.G135A:p.V45V,CASS4:NM_001164115:exon2:c.G135A:p.V45V,CASS4:NM_020356:exon2:c.G135A:p.V45V,CASS4:NM_001164116:exon3:c.G135A:p.V45V 0.14 0.082 0.16 0.15 0.15 0.16 0.1429 0.0985 0.1547 0.1598 0.1516 0.1407 0.1448 0.1596 0.13 0.1 0.14 0.13 0.15 rs911159 COSM4134672 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1437 0.0974 0.1595 0.0948 0.1557 0.1601 0.1417 0.1426 0.1545 0.1362 0.1010 0.1241 0.1093 0.1540 0.1615 0.1486 0.1602 het 2420.80 163 20 55012318 . G A 2420.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.431;DP=163;DS;Dels=0.00;FS=3.056;HRun=0;HaplotypeScore=4.3866;MQ=59.86;MQ0=0;MQRankSum=-0.284;QD=14.85;ReadPosRankSum=-0.719;VQSLOD=5.3008;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,91:163:99:2451,0,1893 20 55088404 55088404 A G exonic RTFDC1 nonsynonymous SNV RTFDC1:NM_001283036:exon6:c.A511G:p.M171V,RTFDC1:NM_001283037:exon6:c.A511G:p.M171V,RTFDC1:NM_016407:exon6:c.A511G:p.M171V,RTFDC1:NM_001283035:exon7:c.A601G:p.M201V 0.87 0.87 0.86 0.99 0.8 0.8 0.8310 0.8666 0.9051 0.9959 0.8567 0.7920 0.8255 0.8206 0.81 0.86 0.78 0.83 0.75 rs1059768 COSM4134678;COSM4134679 1(pancreas);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 0.000 0.810 P -2.23 0.001 N 1.7 0.269 T 2.12 0.004 N 0.019 0.196 -0.978 0.354 T 0.000 0.000 T . . . 0.568 0.148 7.934 0.876 0.168 0.129 0.174 N c -0.915 -0.615 1.000 0.747 0.707 0.730 0 4.67 0.579 1.352 0.334 0.138 0.222 0.981 0.351 0.988 0.529 7.623 0.272 Replication termination factor 2\x2c RING-finger ENSG00000087589.12|ENSG00000022277.8 Cells_Transformed_fibroblasts|Pituitary 0.8291 0.8623 0.8964 0.7046 0.9962 0.8610 0.7875 0.8032 0.8171 0.8343 0.8632 0.8801 0.7219 0.9938 0.8591 0.7943 0.8340 het 224.20 32 20 55088404 . A G 224.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.539;DP=32;Dels=0.00;FS=1.708;HRun=0;HaplotypeScore=0.9993;MQ=57.34;MQ0=0;MQRankSum=-0.357;QD=7.01;ReadPosRankSum=0.952;VQSLOD=3.4748;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,11:32:99:254,0,506 20 55108617 55108617 C A exonic FAM209B nonsynonymous SNV FAM209B:NM_001013646:exon1:c.C220A:p.Q74K 0.66 0.97 0.51 0.55 0.62 0.53 0.5888 0.9209 0.4108 0.5532 0.5417 0.6020 0.5672 0.4901 0.71 0.91 0.61 0.71 0.64 rs3209183 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.357 N 1 0.090 P -1.5 0.005 N 3.44 0.054 T 2.95 0.001 N 0.029 0.010 -1.006 0.281 T 0.000 0.000 T . . . -1.194 0.025 0.007 0.174 0.005 0.001 0.008 N c -1.348 -1.227 0.001 0.081 0.554 0.246 0 2.8 0.317 2.154 0.417 0.045 0.158 0.973 0.343 0.118 0.195 5.987 0.185 . ENSG00000213714.1 Testis 0.5804 0.9261 0.4378 0.6041 0.5579 0.5530 0.6083 0.5748 0.4889 0.6938 0.9190 0.4640 0.6333 0.5488 0.5627 0.6271 0.6299 hom 5827.33 212 20 55108617 . C A 5827.33 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.872;DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7471;MQ=47.62;MQ0=16;MQRankSum=0.944;QD=27.49;ReadPosRankSum=0.708;VQSLOD=3.0687;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:14,198:212:99:5782,428,0 20 55111371 55111371 G A exonic FAM209B synonymous SNV FAM209B:NM_001013646:exon2:c.G393A:p.Q131Q 0.37 0.55 0.35 0.047 0.45 0.42 0.4004 0.5372 0.2634 0.0310 0.4469 0.4497 0.3932 0.3865 0.49 0.54 0.46 0.38 0.39 rs2296130 COSM3758650 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3935 0.5443 0.2897 0.3327 0.0316 0.4547 0.4570 0.3837 0.3809 0.4610 0.5345 0.3110 0.3667 0.0315 0.4648 0.4737 0.4674 het 1410.09 113 20 55111371 . G A 1410.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.197;DP=113;Dels=0.00;FS=8.887;HRun=2;HaplotypeScore=2.9926;MQ=58.50;MQ0=0;MQRankSum=1.197;QD=12.48;ReadPosRankSum=1.174;VQSLOD=4.6755;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,56:113:99:1440,0,1523 20 56098733 56098733 T C exonic CTCFL nonsynonymous SNV CTCFL:NM_001269041:exon1:c.A529G:p.T177A,CTCFL:NM_001269044:exon1:c.A529G:p.T177A,CTCFL:NM_001269048:exon1:c.A529G:p.T177A,CTCFL:NM_001269052:exon1:c.A529G:p.T177A,CTCFL:NM_001269040:exon2:c.A529G:p.T177A,CTCFL:NM_001269042:exon2:c.A529G:p.T177A,CTCFL:NM_001269043:exon2:c.A529G:p.T177A,CTCFL:NM_001269045:exon2:c.A529G:p.T177A,CTCFL:NM_001269046:exon2:c.A529G:p.T177A,CTCFL:NM_001269047:exon2:c.A529G:p.T177A,CTCFL:NM_001269051:exon2:c.A529G:p.T177A,CTCFL:NM_080618:exon3:c.A529G:p.T177A 0.75 0.93 0.69 0.74 0.66 0.65 0.6630 0.8894 0.6424 0.7371 0.5579 0.6345 0.65 0.6540 0.71 0.88 0.63 0.76 0.6 rs6025606 COSM4134686;COSM4909358;COSM4134685 1(thyroid) . . . . . . . . . . . 0.56 0.073 T 0.0 0.119 B 0.001 0.080 B 0.427 0.128 N 1 0.090 P 0.345 0.112 N 2.9 0.101 T -0.88 0.242 N 0.01 0.007 -0.948 0.414 T 0.000 0.000 T . . . -2.098 0.007 0.001 0.385 0.026 0.015 0.049 N c -1.963 -2.046 1.000 0.747 0.554 0.283 0 -6.63 0.016 -3.283 0.006 -0.805 0.032 0.000 0.063 0.001 0.043 1.356 0.020 . . . 0.6547 0.8902 0.6503 0.6564 0.7350 0.5613 0.6318 0.6431 0.6474 0.6909 0.8809 0.6699 0.6589 0.7577 0.5690 0.6093 0.6008 hom 4793.53 149 20 56098733 . T C 4793.53 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.685;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3856;MQ=58.91;MQ0=0;MQRankSum=-1.077;QD=32.17;ReadPosRankSum=0.726;VQSLOD=8.5747;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,148:149:99:4793,370,0 20 56099114 56099114 C G exonic CTCFL nonsynonymous SNV CTCFL:NM_001269041:exon1:c.G148C:p.E50Q,CTCFL:NM_001269044:exon1:c.G148C:p.E50Q,CTCFL:NM_001269048:exon1:c.G148C:p.E50Q,CTCFL:NM_001269052:exon1:c.G148C:p.E50Q,CTCFL:NM_001269040:exon2:c.G148C:p.E50Q,CTCFL:NM_001269042:exon2:c.G148C:p.E50Q,CTCFL:NM_001269043:exon2:c.G148C:p.E50Q,CTCFL:NM_001269045:exon2:c.G148C:p.E50Q,CTCFL:NM_001269046:exon2:c.G148C:p.E50Q,CTCFL:NM_001269047:exon2:c.G148C:p.E50Q,CTCFL:NM_001269051:exon2:c.G148C:p.E50Q,CTCFL:NM_080618:exon3:c.G148C:p.E50Q 0.29 0.086 0.29 0.37 0.42 0.33 0.3644 0.1255 0.2914 0.3580 0.3708 0.4079 0.3942 0.3897 0.31 0.13 0.41 0.22 0.39 rs6070128 COSM4783707;COSM1412683;COSM5829058;COSM5829059;COSM3758654 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.238 0.192 T 0.0 0.151 B 0.003 0.121 B 0.522 0.052 N 1 0.090 P 0.695 0.181 N 2.71 0.121 T -0.24 0.134 N 0.037 0.018 -0.903 0.477 T 0.000 0.000 T . . . -0.913 0.035 0.024 0.256 0.012 0.050 0.106 N c -1.507 -1.571 1.000 0.747 0.581 0.326 0 -4.73 0.030 -0.139 0.103 -0.531 0.049 0.000 0.063 0.000 0.016 9.003 0.351 . . . 0.3662 0.1209 0.2955 0.4133 0.3593 0.3710 0.4096 0.3864 0.3898 0.3141 0.1275 0.3158 0.4305 0.3772 0.3780 0.3967 0.3442 hom 8706.48 250 20 56099114 . C G 8706.48 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4476;MQ=59.48;MQ0=0;QD=34.83;VQSLOD=8.9888;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8706,674,0 20 56136536 56136536 A G exonic PCK1 synonymous SNV PCK1:NM_002591:exon2:c.A69G:p.L23L 0.4 0.31 0.38 0.38 0.53 0.42 0.4539 0.3446 0.3170 0.3815 0.4818 0.5026 0.4945 0.4466 0.45 0.33 0.51 0.4 0.39 rs1042521 COSM4134687 1(thyroid) Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency RCV000275655.1 MedGen:Orphanet:SNOMED_CT C0268194:ORPHA2880:5335002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4507 0.3447 0.3323 0.4740 0.3824 0.4818 0.5031 0.4701 0.4472 0.4353 0.3368 0.3699 0.4669 0.3861 0.4908 0.4863 0.4633 het 2768.03 214 20 56136536 . A G 2768.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.752;DP=214;DS;Dels=0.00;FS=0.508;HRun=0;HaplotypeScore=2.5695;MQ=59.89;MQ0=0;MQRankSum=1.271;QD=12.93;ReadPosRankSum=0.364;VQSLOD=5.9714;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:114,100:214:99:2798,0,2951 20 56137798 56137798 G A exonic PCK1 synonymous SNV PCK1:NM_002591:exon4:c.G453A:p.S151S 0.3 0.31 0.31 0.031 0.47 0.35 0.3788 0.3338 0.2255 0.0361 0.4471 0.4488 0.4219 0.3829 0.41 0.32 0.46 0.35 0.39 rs1062600 COSM4134688;COSM4134689 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency RCV000318565.1 MedGen:Orphanet:SNOMED_CT C0268194:ORPHA2880:5335002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3779 0.3362 0.2474 0.4372 0.0350 0.4504 0.4531 0.4092 0.3849 0.3823 0.3282 0.2914 0.4172 0.0321 0.4604 0.4361 0.4102 het 876.32 93 20 56137798 . G A 876.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.220;DP=93;Dels=0.00;FS=0.836;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;MQRankSum=-2.592;QD=9.42;ReadPosRankSum=-0.353;VQSLOD=4.5512;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,41:93:99:906,0,1277 20 56137807 56137807 A G exonic PCK1 synonymous SNV PCK1:NM_002591:exon4:c.A462G:p.S154S 0.31 0.32 0.34 0.031 0.52 0.36 0.4111 0.3506 0.2386 0.0361 0.4691 0.4960 0.4532 0.3992 0.45 0.34 0.5 0.37 0.42 rs1042523 COSM4134690;COSM4134691 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency RCV000377987.1 MedGen:Orphanet:SNOMED_CT C0268194:ORPHA2880:5335002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4093 0.3529 0.2652 0.4917 0.0352 0.4733 0.4993 0.4446 0.4008 0.4143 0.3447 0.3177 0.4934 0.0328 0.4837 0.4818 0.4469 het 973.43 100 20 56137807 . A G 973.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.260;DP=100;Dels=0.00;FS=0.763;HRun=0;HaplotypeScore=3.4046;MQ=59.77;MQ0=0;MQRankSum=-0.862;QD=9.73;ReadPosRankSum=0.742;VQSLOD=5.7584;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,40:100:99:1003,0,1516 20 56137834 56137834 A G exonic PCK1 synonymous SNV PCK1:NM_002591:exon4:c.A489G:p.S163S 0.31 0.32 0.34 0.031 0.52 0.36 0.4145 0.3515 0.2409 0.0361 0.4723 0.5007 0.4558 0.4004 0.45 0.34 0.5 0.37 0.43 rs1062601 COSM3722977;COSM3722978 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract) Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency RCV000283481.1 MedGen:Orphanet:SNOMED_CT C0268194:ORPHA2880:5335002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4105 0.3534 0.2661 0.4921 0.0353 0.4741 0.5009 0.4458 0.4015 0.4154 0.3451 0.3189 0.4967 0.0327 0.4840 0.4835 0.4487 het 913.19 100 20 56137834 . A G 913.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.491;DP=100;Dels=0.00;FS=0.773;HRun=0;HaplotypeScore=0.7887;MQ=59.31;MQ0=0;MQRankSum=0.483;QD=9.13;ReadPosRankSum=-0.670;VQSLOD=6.5495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:60,40:100:99:943,0,1571 20 56137895 56137895 G C exonic PCK1 nonsynonymous SNV PCK1:NM_002591:exon4:c.G550C:p.V184L 0.85 1. 0.81 0.78 0.86 0.72 0.8463 0.9717 0.7891 0.7835 0.8729 0.8681 0.8576 0.7406 0.9 0.97 0.87 0.86 0.89 rs707555 COSM3736801;COSM3736802 1(haematopoietic_and_lymphoid_tissue);1(skin) Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency RCV000379175.1 MedGen:Orphanet:SNOMED_CT C0268194:ORPHA2880:5335002 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.994 0.810 P -3.69 0.000 N 3.96 0.034 T 1.75 0.005 N 0.074 0.288 -0.924 0.450 T 0.000 0.000 T . . . 0.110 0.104 3.717 0.234 0.010 0.262 0.227 N c -1.135 -0.781 1.000 0.747 0.487 0.133 0 5.13 0.696 4.493 0.598 0.067 0.174 1.000 0.715 0.049 0.163 16.134 0.812 Phosphoenolpyruvate carboxykinase\x2c N-terminal . . 0.8410 0.9749 0.7968 0.8339 0.7838 0.8676 0.8661 0.8548 0.7439 0.8893 0.9715 0.8242 0.8543 0.8062 0.8629 0.8621 0.8714 hom 2693.41 89 20 56137895 . G C 2693.41 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2952;MQ=59.74;MQ0=0;QD=30.26;VQSLOD=7.2825;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2726,211,0 20 56138621 56138621 A G exonic PCK1 nonsynonymous SNV PCK1:NM_002591:exon6:c.A799G:p.I267V 0.058 0.041 0.092 0.001 0.12 0.05 0.0926 0.0476 0.0573 0.0014 0.0943 0.1231 0.1062 0.0663 0.099 0.044 0.13 0.098 0.12 rs8192708 COSM4987731;COSM4987730 1(breast);3(soft_tissue) Likely benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency RCV000406471.1 MedGen:Orphanet:SNOMED_CT C0268194:ORPHA2880:5335002 . . . . . . 0.052 0.390 T 0.992 0.629 D 0.882 0.608 P 0.000 0.843 D 0.000 0.810 P 2.795 0.818 M 3.29 0.065 T -0.69 0.197 N 0.267 0.324 -1.131 0.017 T 0.001 0.003 T . . . 4.362 0.584 24.1 0.997 0.828 0.970 0.718 D c 0.799 0.722 1.000 0.747 0.487 0.133 0 5.43 0.789 8.818 0.916 1.199 0.960 1.000 0.715 0.980 0.490 15.496 0.753 Phosphoenolpyruvate carboxykinase\x2c C-terminal . . 0.0931 0.0488 0.0669 0.1484 0.0009 0.0975 0.1226 0.1174 0.0617 0.0859 0.0458 0.0957 0.1391 0.0006 0.1002 0.1133 0.0900 het 486.39 44 20 56138621 . A G 486.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.386;DP=44;Dels=0.00;FS=1.400;HRun=1;HaplotypeScore=1.6120;MQ=59.48;MQ0=0;MQRankSum=0.986;QD=11.05;ReadPosRankSum=-1.769;VQSLOD=6.2619;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:23,21:44:99:516,0,615 20 56139403 56139403 T C exonic PCK1 synonymous SNV PCK1:NM_002591:exon7:c.T1140C:p.G380G 0.79 0.96 0.71 0.77 0.74 0.67 0.7547 0.9244 0.7328 0.7771 0.7717 0.7459 0.7478 0.6807 0.8 0.93 0.74 0.76 0.75 rs2070756 COSM4419746;COSM4419747 2(haematopoietic_and_lymphoid_tissue) Benign Phosphoenolpyruvate_carboxykinase_(GTP)_deficiency RCV000297347.1 MedGen:Orphanet:SNOMED_CT C0268194:ORPHA2880:5335002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7473 0.9262 0.7302 0.6882 0.7780 0.7639 0.7433 0.7358 0.6827 0.8026 0.9251 0.7267 0.7219 0.8040 0.7600 0.7484 0.7821 het 1355.78 111 20 56139403 . T C 1355.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.104;DP=111;Dels=0.00;FS=3.600;HRun=0;HaplotypeScore=0.9933;MQ=59.79;MQ0=0;MQRankSum=-0.725;QD=12.21;ReadPosRankSum=0.672;VQSLOD=6.3936;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,51:111:99:1386,0,1652 20 56186884 56186884 T C exonic ZBP1 nonsynonymous SNV ZBP1:NM_001160418:exon5:c.A548G:p.Q183R,ZBP1:NM_001160417:exon6:c.A770G:p.Q257R,ZBP1:NM_030776:exon6:c.A773G:p.Q258R 1. 1. 0.99 1. 0.99 1. 0.9930 0.9978 0.9938 1 0.9793 0.9912 0.9810 0.9986 0.99 1. 0.99 1. 0.88 rs2865394 . . . . . . . . . . . . . 0.663 0.046 T 0.0 0.026 B 0.0 0.013 B 0.038 0.018 N 1 0.090 P -1.59 0.004 N 3.14 0.114 T 0.61 0.025 N 0.02 0.012 -1.020 0.238 T 0.000 0.000 T . . . -2.140 0.006 0.001 0.199 0.007 0.004 0.020 N c -1.778 -1.772 0.007 0.113 0.615 0.372 0 -2.03 0.069 -1.677 0.020 -0.969 0.023 0.000 0.063 0.004 0.083 5.593 0.165 . . . 0.9922 0.9977 0.9945 0.9878 1 0.9772 0.9913 0.9891 0.9987 0.9921 0.9974 0.9952 0.9934 1 0.9831 0.9899 0.9949 hom 860.16 31 20 56186884 . T C 860.16 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.75;VQSLOD=13.1583;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:69.21:893,69,0 20 56227514 56227514 T C exonic PMEPA1 synonymous SNV PMEPA1:NM_001255976:exon4:c.A375G:p.S125S,PMEPA1:NM_020182:exon4:c.A459G:p.S153S,PMEPA1:NM_199169:exon4:c.A354G:p.S118S,PMEPA1:NM_199170:exon4:c.A309G:p.S103S,PMEPA1:NM_199171:exon4:c.A309G:p.S103S 0.31 0.55 0.18 0.37 0.15 0.2 0.2122 0.4754 0.1650 0.3820 0.1124 0.1738 0.1865 0.1863 0.27 0.47 0.17 0.37 0.2 rs6025698 COSM329547 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2040 0.4820 0.1689 0.3019 0.3859 0.1072 0.1644 0.1956 0.1845 0.2551 0.4659 0.1611 0.3245 0.3961 0.1125 0.1594 0.1797 het 464.99 39 20 56227514 . T C 464.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.229;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.059;QD=11.92;ReadPosRankSum=0.910;VQSLOD=11.6622;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,22:39:99:495,0,411 20 56227532 56227532 T C exonic PMEPA1 synonymous SNV PMEPA1:NM_001255976:exon4:c.A357G:p.P119P,PMEPA1:NM_020182:exon4:c.A441G:p.P147P,PMEPA1:NM_199169:exon4:c.A336G:p.P112P,PMEPA1:NM_199170:exon4:c.A291G:p.P97P,PMEPA1:NM_199171:exon4:c.A291G:p.P97P 0.67 0.43 0.64 0.84 0.75 0.75 0.7279 0.4721 0.6454 0.8417 0.8087 0.7526 0.7324 0.7532 0.67 0.48 0.76 0.61 0.67 rs6025699 COSM1412695 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7315 0.4690 0.6430 0.7467 0.8385 0.8067 0.7560 0.7288 0.7520 0.6864 0.4775 0.6408 0.7483 0.8335 0.7963 0.7620 0.7746 hom 1175.71 41 20 56227532 . T C 1175.71 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.68;VQSLOD=13.2908;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1209,105,0 20 57244493 57244493 G A exonic STX16 synonymous SNV STX16:NM_001134772:exon4:c.G528A:p.Q176Q,STX16:NM_003763:exon4:c.G477A:p.Q159Q,STX16:NM_001001433:exon5:c.G540A:p.Q180Q,STX16:NM_001134773:exon5:c.G489A:p.Q163Q,STX16:NM_001204868:exon6:c.G381A:p.Q127Q 0.47 0.5 0.46 0.41 0.5 0.49 0.5021 0.4979 0.4244 0.4549 0.5042 0.5227 0.5108 0.5006 0.52 0.48 0.53 0.5 0.53 rs2296524 COSM5983014;COSM5983012;COSM5983013;COSM5983011 1(upper_aerodigestive_tract) Benign Pseudohypoaldosteronism\x2c_Type_I\x2c_Dominant RCV000332957.1 MedGen CN239441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4929 0.4821 0.4262 0.5426 0.4330 0.4886 0.5213 0.4846 0.4920 0.5078 0.4732 0.4017 0.5927 0.4072 0.4886 0.5468 0.5195 hom 528.48 17 20 57244493 . G A 528.48 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.09;VQSLOD=13.7250;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:48.14:561,48,0 20 57268867 57268867 C A exonic NPEPL1 synonymous SNV NPEPL1:NM_024663:exon2:c.C225A:p.T75T,NPEPL1:NM_001204872:exon3:c.C141A:p.T47T,NPEPL1:NM_001204873:exon3:c.C81A:p.T27T 0.3 0.2 0.3 0.38 0.34 0.32 0.3531 0.2234 0.3125 0.4287 0.3724 0.3835 0.3187 0.2903 0.34 0.22 0.39 0.34 . rs3746396 COSM4001964 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3525 0.2166 0.3234 0.3368 0.4124 0.3671 0.3870 0.3377 0.2913 0.3396 0.2142 0.2914 0.3867 0.3851 0.3648 0.4013 0.3755 hom 2318.32 71 20 57268867 . C A 2318.32 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5115;MQ=59.35;MQ0=0;QD=32.65;VQSLOD=9.3512;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2351,184,0 20 57290347 57290347 C G exonic NPEPL1 nonsynonymous SNV NPEPL1:NM_024663:exon12:c.C1537G:p.L513V,NPEPL1:NM_001204872:exon13:c.C1453G:p.L485V,NPEPL1:NM_001204873:exon13:c.C1393G:p.L465V . . . . . . 0.5730 0.7787 0.4098 0.4793 0.5721 0.5909 0.5597 0.5374 0.67 0.79 0.61 0.69 . rs6026468 COSM4998004 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.406 0.130 N 1 0.090 P -0.755 0.017 N 1.55 0.299 T 0.41 0.034 N 0.011 0.055 -0.928 0.444 T 0.000 0.000 T . . . -2.408 0.004 0.001 0.694 0.087 0.027 0.073 N c -2.335 -2.364 1.000 0.747 0.706 0.609 0 -10.5 0.002 -0.478 0.066 -2.498 0.003 0.000 0.063 0.202 0.218 1.476 0.023 Peptidase M17\x2c leucyl aminopeptidase\x2c C-terminal ENSG00000254995.4|ENSG00000254995.4|ENSG00000254995.4|ENSG00000254995.4|ENSG00000254995.4|ENSG00000254995.4|ENSG00000254995.4|ENSG00000254995.4|ENSG00000254995.4 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Brain_Cortex|Breast_Mammary_Tissue|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.5538 0.7761 0.4182 0.6032 0.4515 0.5402 0.5874 0.5539 0.5237 0.6328 0.7778 0.4653 0.6921 0.4442 0.5461 0.6019 0.5633 hom 824.35 28 20 57290347 . C G 824.35 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=29.44;VQSLOD=8.3047;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:69.19:857,69,0 20 57415455 57415455 C T exonic GNAS synonymous SNV GNAS:NM_016592:exon1:c.C294T:p.P98P 0.047 0.12 0.022 0.005 0.023 0.04 0.0332 0.1091 0.0156 0.0055 0.0089 0.0290 0.0167 0.0400 0.052 0.1 0.026 0.065 0.049 rs1800902 COSM5020333 1(breast);1(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0299 0.1095 0.0154 0.0140 0.0052 0.0088 0.0297 0.0316 0.0407 0.0464 0.1051 0.0382 0.0099 0.0123 0.0089 0.0272 0.0265 het 2153.08 201 20 57415455 . C T 2153.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.257;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8465;MQ=59.16;MQ0=0;MQRankSum=0.811;QD=10.71;ReadPosRankSum=0.897;VQSLOD=3.6978;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,85:201:99:2183,0,2991 20 57478807 57478807 C T exonic GNAS synonymous SNV GNAS:NM_001077489:exon4:c.C348T:p.I116I,GNAS:NM_080426:exon4:c.C351T:p.I117I,GNAS:NM_000516:exon5:c.C393T:p.I131I,GNAS:NM_001077488:exon5:c.C396T:p.I132I,GNAS:NM_001309840:exon5:c.C216T:p.I72I,GNAS:NM_001309861:exon5:c.C216T:p.I72I,GNAS:NM_080425:exon5:c.C2322T:p.I774I 0.64 0.81 0.61 0.67 0.47 0.58 0.5473 0.7605 0.6336 0.6302 0.3642 0.5009 0.5573 0.5698 0.58 0.75 0.49 0.73 0.52 rs7121 COSM3758662;COSM3758661 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000178784.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5416 0.7606 0.6194 0.6308 0.6465 0.3643 0.4910 0.5552 0.5704 0.5563 0.7561 0.6235 0.64 0.6584 0.3743 0.4718 0.4816 het 2354.09 250 20 57478807 . C T 2354.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.396;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.4482;MQ=59.46;MQ0=0;MQRankSum=0.014;QD=9.42;ReadPosRankSum=-0.096;VQSLOD=3.6827;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:152,98:250:99:2384,0,4336 20 57571763 57571763 A G exonic CTSZ synonymous SNV CTSZ:NM_001336:exon5:c.T732C:p.S244S 0.7 0.75 0.62 0.78 0.64 0.68 0.6407 0.7284 0.5638 0.7865 0.5848 0.6246 0.6545 0.6502 0.67 0.72 0.64 0.65 0.55 rs9760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6341 0.7271 0.5630 0.6151 0.7861 0.5844 0.6295 0.6143 0.6424 0.6719 0.7239 0.5644 0.6126 0.7819 0.5992 0.6551 0.6561 hom 3400.63 109 20 57571763 . A G 3400.63 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1090;MQ=59.06;MQ0=0;QD=31.20;VQSLOD=5.3643;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,108:109:99:3400,280,0 20 57572675 57572675 A G exonic CTSZ synonymous SNV CTSZ:NM_001336:exon4:c.T621C:p.Y207Y 1. 1. 1. 1. 1. 1. 0.9979 0.9994 0.9999 0.9999 0.9967 0.9966 0.9978 1 1. 1. 1. 0.97 1. rs163785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9992 1.0000 1 1 0.9972 0.9965 0.9965 1 0.9969 0.9997 1 1 1 0.9980 0.9945 0.9959 hom 2323.41 77 20 57572675 . A G 2323.41 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59.76;MQ0=0;QD=30.17;VQSLOD=7.8296;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2356,193,0 20 57599016 57599016 T G exonic TUBB1 synonymous SNV TUBB1:NM_030773:exon4:c.T534G:p.T178T 1. 1. 1. 1. 1. 1. 0.9977 0.9952 0.9998 1 0.9976 0.9968 0.9978 1 1. 1. 1. 0.99 1. rs163777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9979 0.9952 0.9999 1 1 0.9979 0.9967 0.9967 1 0.9974 0.9971 0.9988 1 1 0.9989 0.9970 0.9959 hom 7662.06 249 20 57599016 . T G 7662.06 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.6853;MQ=58.84;MQ0=0;QD=30.77;VQSLOD=4.1697;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,247:249:99:7660,632,0 20 57829301 57829301 T C exonic ZNF831 nonsynonymous SNV ZNF831:NM_178457:exon5:c.T4537C:p.S1513P 0.62 0.31 0.61 0.91 0.56 0.8 0.5924 0.3343 0.6007 0.8915 0.5911 0.5462 0.5913 0.7708 0.47 0.34 0.54 0.56 0.49 rs259956 COSM1412769 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.944 0.083 N 1 0.090 P -1.5 0.005 N 3.53 0.049 T 2.16 0.003 N 0.013 0.002 -0.976 0.359 T 0.000 0.000 T . . . -1.138 0.027 0.008 0.074 0.000 0.019 0.057 N c -1.600 -1.544 0.054 0.150 0.549 0.223 0 -2.98 0.051 -0.246 0.088 -0.351 0.070 0.001 0.137 0.000 0.016 1.574 0.024 . . . 0.5929 0.3298 0.5950 0.5515 0.8870 0.5844 0.5406 0.5790 0.7675 0.5056 0.3405 0.5800 0.5367 0.8711 0.5938 0.5311 0.5926 het 1105.89 58 20 57829301 . T C 1105.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.296;DP=58;Dels=0.00;FS=7.664;HRun=1;HaplotypeScore=2.6147;MQ=59.60;MQ0=0;MQRankSum=-0.296;QD=19.07;ReadPosRankSum=-0.120;VQSLOD=3.9694;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,36:58:99:1136,0,596 20 60419750 60419750 C T exonic CDH4 synonymous SNV CDH4:NM_001252338:exon4:c.C492T:p.I164I,CDH4:NM_001252339:exon4:c.C381T:p.I127I,CDH4:NM_001794:exon5:c.C603T:p.I201I 0.015 0.0015 0.013 . 0.042 0.022 0.0329 0.0100 0.0127 0.0001 0.0287 0.0471 0.0367 0.0230 0.035 0.012 0.047 0.022 0.066 rs34912551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0318 0.0077 0.0146 0.0196 0.0002 0.0301 0.0489 0.0340 0.0229 0.0303 0.0074 0.0167 0.0232 0.0006 0.0286 0.0474 0.0418 het 1237.44 144 20 60419750 . C T 1237.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.710;DP=144;Dels=0.00;FS=0.649;HRun=1;HaplotypeScore=4.4922;MQ=59.28;MQ0=0;MQRankSum=-0.067;QD=8.59;ReadPosRankSum=-0.308;VQSLOD=5.2900;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,52:144:99:1267,0,2246 20 60485627 60485627 C T exonic CDH4 synonymous SNV CDH4:NM_001252338:exon8:c.C1227T:p.D409D,CDH4:NM_001252339:exon8:c.C1116T:p.D372D,CDH4:NM_001794:exon9:c.C1338T:p.D446D 0.7 0.52 0.85 0.54 0.93 0.79 0.8515 0.5883 0.7973 0.5472 0.9123 0.9420 0.8830 0.8221 0.83 0.61 0.94 0.56 0.93 rs2427240 COSM1685461 2(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8532 0.5837 0.7981 0.8989 0.5466 0.9107 0.9448 0.8802 0.8255 0.8151 0.5864 0.8026 0.8841 0.5594 0.9136 0.9464 0.8980 hom 3689.77 122 20 60485627 . C T 3689.77 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.47;MQ0=0;QD=30.24;VQSLOD=9.1671;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3689,304,0 20 60503350 60503350 A G exonic CDH4 nonsynonymous SNV CDH4:NM_001252338:exon11:c.A1763G:p.K588R,CDH4:NM_001252339:exon11:c.A1652G:p.K551R,CDH4:NM_001794:exon12:c.A1874G:p.K625R 0.57 0.25 0.58 0.84 0.52 0.75 0.5724 0.3230 0.6736 0.8548 0.5851 0.5248 0.5476 0.6977 0.45 0.32 0.52 0.51 0.5 rs6142884 COSM3758683 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.004 0.342 N 0.999 0.217 P -0.85 0.015 N 0.18 0.604 T 0.3 0.041 N 0.086 0.081 -0.973 0.366 T 0.000 0.000 T . . . -1.694 0.013 0.002 0.224 0.009 0.213 0.211 N c -1.247 -1.159 0.019 0.132 0.696 0.567 0 -2.0 0.070 0.440 0.212 -0.504 0.051 0.995 0.385 0.292 0.236 12.486 0.550 Cadherin|Cadherin-like . . 0.5767 0.3130 0.6712 0.4909 0.8481 0.5867 0.5181 0.5507 0.6899 0.4948 0.3194 0.6253 0.45 0.8512 0.5889 0.5268 0.5418 hom 8165.57 250 20 60503350 . A G 8165.57 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7666;MQ=59.30;MQ0=0;QD=32.66;VQSLOD=9.4788;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8165,635,0 20 60509209 60509209 C T exonic CDH4 synonymous SNV CDH4:NM_001252338:exon14:c.C2364T:p.G788G,CDH4:NM_001252339:exon14:c.C2253T:p.G751G,CDH4:NM_001794:exon15:c.C2475T:p.G825G 0.16 0.029 0.2 0.15 0.25 0.23 0.2179 0.0592 0.1919 0.1566 0.2029 0.2499 0.2259 0.2413 0.19 0.065 0.25 0.11 0.3 rs3753045 COSM1412878 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2150 0.0534 0.2028 0.2636 0.1550 0.2040 0.2435 0.2391 0.2271 0.1769 0.0551 0.2184 0.2748 0.1477 0.1966 0.2415 0.1888 hom 1738.72 60 20 60509209 . C T 1738.72 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6385;MQ=59.62;MQ0=0;QD=28.98;VQSLOD=8.1754;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,57:60:99:1772,147,0 20 60572663 60572663 C A exonic TAF4 synonymous SNV TAF4:NM_003185:exon14:c.G3033T:p.A1011A 0.59 0.48 0.59 0.65 0.67 0.57 0.6131 0.4951 0.4968 0.6425 0.6439 0.6537 0.6652 0.5746 0.61 0.51 0.66 0.52 0.64 rs2296081 COSM1412879 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6147 0.4979 0.5086 0.6905 0.6438 0.6497 0.6536 0.6531 0.5733 0.5999 0.5053 0.5371 0.7053 0.6180 0.6458 0.6419 0.6255 hom 3290.04 98 20 60572663 . C A 3290.04 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=33.57;VQSLOD=9.6536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3290,265,0 20 60713311 60713311 G A exonic PSMA7 synonymous SNV PSMA7:NM_002792:exon5:c.C507T:p.R169R 0.6 0.14 0.74 0.77 0.8 0.72 0.7390 0.2286 0.7479 0.7851 0.7992 0.7992 0.7550 0.7624 0.61 0.25 0.8 0.49 0.8 rs7076 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7468 0.2195 0.7424 0.7184 0.7793 0.7997 0.8029 0.7581 0.7613 0.6320 0.2361 0.7410 0.6788 0.7682 0.8063 0.7908 0.7714 hom 4398.40 147 20 60713311 . G A 4398.40 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.685;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2159;MQ=59.37;MQ0=0;MQRankSum=0.736;QD=29.92;ReadPosRankSum=0.759;VQSLOD=7.7989;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,146:147:99:4376,330,0 20 60713332 60713332 A G exonic PSMA7 synonymous SNV PSMA7:NM_002792:exon5:c.T486C:p.G162G 0.86 0.91 0.88 0.82 0.87 0.8 0.8524 0.9053 0.8596 0.8336 0.8217 0.8580 0.8267 0.8144 0.87 0.91 0.86 0.92 0.89 rs1135961 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8499 0.9081 0.8570 0.8333 0.8275 0.8218 0.8599 0.8522 0.8143 0.8614 0.9093 0.8663 0.8146 0.8183 0.8257 0.8485 0.8411 hom 4862.25 153 20 60713332 . A G 4862.25 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=59.27;MQ0=0;QD=31.78;VQSLOD=9.5901;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4862,370,0 20 60768615 60768615 G A exonic MTG2 nonsynonymous SNV MTG2:NM_015666:exon2:c.G139A:p.G47S 0.09 0.14 0.082 0.023 0.14 0.052 0.1200 0.1427 0.0593 0.0281 0.1869 0.1471 0.1295 0.0608 0.14 0.14 0.14 0.087 0.098 rs6062133 COSM5003616 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.040 B 0.041 0.240 N 1 0.090 P -0.665 0.020 N 2.9 0.157 T 0.54 0.090 N 0.022 0.005 -0.948 0.414 T 0.000 0.001 T . . . -1.495 0.017 0.003 0.685 0.084 0.004 0.019 N c -1.688 -1.641 0.999 0.371 0.706 0.609 0 -0.701 0.107 -0.119 0.106 -2.812 0.002 0.009 0.180 0.000 0.016 10.698 0.449 . ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13|ENSG00000101181.13 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid 0.1169 0.1412 0.0615 0.1503 0.0290 0.1779 0.1445 0.1238 0.0580 0.1383 0.1336 0.0776 0.1291 0.0327 0.1694 0.1481 0.1475 het 542.08 47 20 60768615 . G A 542.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.108;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8607;MQ=60.00;MQ0=0;MQRankSum=-0.527;QD=11.53;ReadPosRankSum=0.635;VQSLOD=5.7145;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,20:47:99:572,0,809 20 60791404 60791404 C T exonic HRH3 synonymous SNV HRH3:NM_007232:exon3:c.G996A:p.S332S 0.49 0.58 0.5 0.37 0.41 0.57 0.5084 0.6118 0.6264 0.4088 0.4926 0.4662 0.4949 0.5616 0.45 0.55 0.39 0.46 0.27 rs3787429 COSM3758688;COSM3758689 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.494 P . . . . . . . . . . . . . . . . . . . . 1.708 0.266 14.45 0.797 0.124 0.071 0.129 N n 0.804 2.353 1.000 0.462 0.696 0.567 0 -9.21 0.006 -1.867 0.017 -2.112 0.004 0.000 0.063 0.067 0.174 3.043 0.057 . ENSG00000101181.13 Muscle_Skeletal 0.4479 0.5742 0.5499 0.3761 0.3402 0.4267 0.4010 0.4226 0.5355 0.4401 0.5616 0.5239 0.3867 0.3203 0.4150 0.3868 0.4088 het 370.96 20 20 60791404 . C T 370.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.093;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=0.371;QD=18.55;ReadPosRankSum=0.784;VQSLOD=6.9197;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,14:20:99:401,0,125 20 60881330 60881330 G A exonic ADRM1 synonymous SNV ADRM1:NM_001281437:exon3:c.G291A:p.A97A,ADRM1:NM_001281438:exon3:c.G291A:p.A97A,ADRM1:NM_007002:exon4:c.G408A:p.A136A,ADRM1:NM_175573:exon4:c.G408A:p.A136A 0.82 0.59 0.88 0.98 0.9 0.83 0.8765 0.6338 0.8944 0.9816 0.8252 0.9153 0.8714 0.8266 0.84 0.66 0.93 0.83 0.49 rs2427273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8806 0.6269 0.8880 0.9391 0.9834 0.8254 0.9170 0.8867 0.8288 0.8284 0.6398 0.8744 0.9338 0.9833 0.8146 0.9175 0.8663 hom 4976.26 163 20 60881330 . G A 4976.26 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.711;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2604;MQ=59.16;MQ0=1;MQRankSum=-0.936;QD=30.53;ReadPosRankSum=-0.914;VQSLOD=8.3290;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,162:163:99:4975,400,0 20 60881780 60881780 T C exonic ADRM1 synonymous SNV ADRM1:NM_001281437:exon4:c.T414C:p.L138L,ADRM1:NM_001281438:exon4:c.T414C:p.L138L,ADRM1:NM_007002:exon5:c.T531C:p.L177L,ADRM1:NM_175573:exon5:c.T531C:p.L177L 0.96 0.88 0.99 0.98 1. 1. 0.9887 0.8986 0.9956 0.9880 0.9996 0.9985 0.9898 0.9956 0.97 0.91 1. 0.75 0.93 rs2427275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9908 0.8980 0.9943 0.9976 0.9889 0.9998 0.9988 0.9921 0.9952 0.9701 0.8993 0.9940 1 0.9883 0.9994 0.9991 0.9919 hom 276.78 11 20 60881780 . T C 276.78 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.63;MQ0=0;QD=25.16;VQSLOD=7.8354;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:24.07:310,24,0 20 60887581 60887581 G A exonic LAMA5 nonsynonymous SNV LAMA5:NM_005560:exon68:c.C9235T:p.R3079W 0.68 0.57 0.7 0.74 0.64 0.78 0.6811 0.5756 0.7434 0.7383 0.7164 0.6601 0.6786 0.7395 0.62 0.57 0.65 0.6 0.61 rs944895 COSM444167 2(thyroid);8(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.983 0.585 D 0.545 0.472 P 0.086 0.024 N 1 0.090 P 1.04 0.263 L -1.18 0.783 T -1.81 0.425 N 0.185 0.226 -0.903 0.477 T 0.000 0.000 T . . . 5.425 0.736 26.0 0.997 0.790 0.135 0.177 N c -0.364 -0.462 1.000 0.448 0.707 0.730 0 3.38 0.376 0.130 0.156 0.104 0.200 0.000 0.063 0.664 0.301 3.295 0.065 Concanavalin A-like lectin/glucanase domain|Laminin G domain ENSG00000149679.7|ENSG00000228812.3|ENSG00000228812.3|ENSG00000228812.3 Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver 0.6779 0.5665 0.7299 0.7140 0.7330 0.7010 0.6474 0.6759 0.7315 0.6515 0.5700 0.7231 0.6854 0.7212 0.7006 0.6737 0.6732 hom 1210.46 39 20 60887581 . G A 1210.46 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;QD=31.04;VQSLOD=8.4161;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1243,102,0 20 60892526 60892526 A G exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon55:c.T7386C:p.D2462D 1. 1. 1. 1. 1. 1. 0.9998 0.9986 0.9999 1 1 0.9999 1 0.9995 1. 1. 1. 0.91 0.98 rs2427281 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9986 0.9999 1 1 1 0.9999 1 0.9994 0.9996 0.9989 1 1 1 1 0.9999 1 hom 2118.28 73 20 60892526 . A G 2118.28 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.37;MQ0=0;QD=29.02;VQSLOD=7.9689;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:73:99:2151,178,0 20 60897104 60897104 C T exonic LAMA5 nonsynonymous SNV LAMA5:NM_005560:exon48:c.G6467A:p.G2156E 0.016 0.003 0.042 . 0.044 0.0051 0.0300 0.0079 0.0191 0.0002 0.0251 0.0458 0.0255 0.0067 0.031 0.0075 0.043 0.011 0.025 rs141208202 COSM3758694 1(large_intestine) . . . . . . . . . . . 0.038 0.427 D 0.164 0.268 B 0.06 0.253 B 0.469 0.123 U 1 0.090 N 0.345 0.112 N 2.2 0.186 T -1.68 0.401 N 0.074 0.064 -1.000 0.298 T 0.006 0.022 T . . . 0.588 0.150 8.076 0.841 0.146 0.167 0.193 N c -1.155 -1.170 0.987 0.312 0.672 0.522 0 1.11 0.195 0.110 0.152 -0.280 0.085 0.000 0.063 0.011 0.114 8.568 0.325 Laminin EGF domain . . 0.0311 0.0075 0.0232 0.0610 0.0002 0.0247 0.0458 0.0395 0.0081 0.0260 0.0061 0.0239 0.0629 0.0006 0.0252 0.0396 0.0277 het 829.42 69 20 60897104 . C T 829.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.644;DP=69;Dels=0.00;FS=1.162;HRun=0;HaplotypeScore=0.8321;MQ=59.67;MQ0=0;MQRankSum=-0.344;QD=12.02;ReadPosRankSum=0.012;VQSLOD=5.0869;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,34:69:99:859,0,1032 20 60898891 60898891 C T exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon44:c.G5790A:p.L1930L 0.0002 . . . 0.001 . 0.0027 0.0009 0.0009 0 0.0029 0.0040 0.0015 0.0012 0.0026 0.0002 0.0037 . . rs138911913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0023 0.0007 0.0012 0.0004 0 0.0025 0.0037 0.0032 0.0008 0.0027 0.0012 0.0024 0 0 0.0020 0.0040 0.0041 het 259.37 24 20 60898891 . C T 259.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.916;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9453;MQ=60.00;MQ0=0;MQRankSum=-0.260;QD=10.81;ReadPosRankSum=-0.375;VQSLOD=4.3390;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:289,0,330 20 60899206 60899206 C T exonic LAMA5 nonsynonymous SNV LAMA5:NM_005560:exon43:c.G5698A:p.V1900M 0.66 0.54 0.71 0.79 0.67 0.66 0.6848 0.5419 0.7474 0.7839 0.6715 0.6910 0.6971 0.6549 0.65 0.54 0.7 0.62 0.52 rs2427283 COSM149203 1(stomach);1(prostate);1(thyroid) . . . . . . . . . . . 0.18 0.219 T 0.839 0.445 P 0.231 0.366 B 0.032 0.250 U 1 0.090 P 1.955 0.530 M 0.02 0.623 T -0.99 0.262 N 0.255 0.311 -0.986 0.336 T 0.000 0.000 T . . . 2.870 0.406 21.7 0.996 0.716 0.186 0.201 N c -0.420 -0.561 0.746 0.233 0.707 0.730 0 1.99 0.253 0.328 0.193 -0.097 0.117 0.117 0.229 0.007 0.100 5.858 0.179 Laminin EGF domain ENSG00000149679.7|ENSG00000149679.7|ENSG00000226332.2|ENSG00000149679.7|ENSG00000149679.7|ENSG00000149679.7 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic 0.6832 0.5344 0.7400 0.7475 0.7817 0.6598 0.6892 0.6910 0.6392 0.6574 0.5355 0.7146 0.7248 0.77 0.6520 0.7123 0.6712 hom 1466.28 48 20 60899206 . C T 1466.28 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.55;VQSLOD=13.7330;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1499,120,0 20 60900481 60900481 A G exonic LAMA5 nonsynonymous SNV LAMA5:NM_005560:exon41:c.T5420C:p.F1807S 0.89 0.82 0.96 0.98 0.94 0.82 0.9185 0.8458 0.9730 0.9835 0.8581 0.9398 0.9226 0.8304 0.92 0.85 0.95 0.88 0.95 rs2427284 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.981 0.251 P -2.28 0.001 N 1.44 0.327 T 4.28 0.000 N 0.055 0.037 -0.950 0.410 T 0.000 0.000 T . . . 0.909 0.181 10.13 0.298 0.016 0.114 0.164 N c -0.928 -0.656 1.000 0.747 0.707 0.730 0 4.84 0.620 4.912 0.628 0.014 0.141 1.000 0.715 0.511 0.273 13.335 0.598 Laminin IV ENSG00000130703.11 Whole_Blood 0.9220 0.8447 0.9734 0.9711 0.9847 0.8547 0.9412 0.9273 0.8319 0.9032 0.8409 0.9522 0.9735 0.9833 0.8474 0.9402 0.8961 hom 892.53 27 20 60900481 . A G 892.53 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=33.06;VQSLOD=9.9842;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:75.22:926,75,0 20 60900579 60900579 C A exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon41:c.G5322T:p.T1774T 0.89 0.82 0.96 0.98 0.94 0.82 0.9186 0.8440 0.9730 0.9835 0.8560 0.9396 0.9227 0.8333 0.92 0.85 0.95 0.88 0.96 rs2427285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9217 0.8438 0.9733 0.9677 0.9847 0.8543 0.9411 0.9267 0.8323 0.9033 0.8411 0.9523 0.9735 0.9833 0.8477 0.9401 0.8961 hom 1429.19 43 20 60900579 . C A 1429.19 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;QD=33.24;VQSLOD=9.0278;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1462,114,0 20 60904853 60904853 T C exonic LAMA5 nonsynonymous SNV LAMA5:NM_005560:exon32:c.A4099G:p.K1367E 0.91 0.87 0.96 0.98 0.94 0.82 0.9227 0.8889 0.9771 0.9837 0.8598 0.9390 0.9265 0.8326 0.93 0.89 0.95 0.88 0.86 rs2427286 COSM4134726 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 0.956 0.263 P -2.215 0.001 N 2.25 0.178 T 1.4 0.008 N 0.091 0.089 -0.962 0.388 T 0.000 0.000 T . . . 1.464 0.238 13.12 0.885 0.174 0.249 0.223 N c -0.906 -0.611 1.000 0.747 0.672 0.522 0 4.36 0.515 3.212 0.506 -0.078 0.119 0.992 0.373 0.840 0.350 12.441 0.548 . ENSG00000130703.11 Whole_Blood 0.9250 0.8890 0.9762 0.9678 0.9852 0.8543 0.9408 0.9273 0.8327 0.9151 0.8873 0.9558 0.9735 0.9840 0.8476 0.9374 0.8961 hom 954.91 32 20 60904853 . T C 954.91 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=58.09;MQ0=0;QD=29.84;VQSLOD=8.4328;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:87.21:988,87,0 20 60907446 60907446 T C exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon28:c.A3534G:p.E1178E 0.73 0.34 0.8 0.94 0.92 0.8 0.8570 0.4369 0.8182 0.9484 0.8594 0.9276 0.8694 0.8104 0.77 0.45 0.93 0.64 0.89 rs2151513 COSM1412945 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8613 0.4257 0.8176 0.9111 0.9512 0.8577 0.9299 0.8682 0.8120 0.7767 0.4383 0.8162 0.9167 0.9426 0.8516 0.9273 0.8653 hom 3555.89 113 20 60907446 . T C 3555.89 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4351;MQ=58.79;MQ0=0;QD=31.47;VQSLOD=6.5843;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3555,277,0 20 60907675 60907675 G A exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon27:c.C3381T:p.A1127A 0.7 0.28 0.78 0.94 0.88 0.79 0.8305 0.4064 0.8071 0.9485 0.8204 0.8856 0.8422 0.7954 0.73 0.41 0.89 0.6 0.79 rs6142734 COSM444171 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8280 0.3743 0.7975 0.8860 0.9514 0.8112 0.8866 0.8324 0.7937 0.7343 0.3865 0.7995 0.8841 0.9413 0.8047 0.8853 0.8238 hom 758.81 23 20 60907675 . G A 758.81 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.99;VQSLOD=13.6282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:63.19:792,63,0 20 60908964 60908964 G A exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon23:c.C2871T:p.C957C 0.72 0.31 0.8 0.94 0.92 0.8 0.8465 0.4173 0.8020 0.9418 0.8403 0.9148 0.8525 0.8034 0.75 0.41 0.92 0.47 0.82 rs13044266 COSM1412950 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8502 0.3851 0.8081 0.9022 0.9492 0.8491 0.9207 0.8553 0.8033 0.7651 0.4075 0.8104 0.9060 0.9403 0.8497 0.9227 0.8555 hom 1023.44 33 20 60908964 . G A 1023.44 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.16;MQ0=0;QD=31.01;VQSLOD=8.6883;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:84.26:1056,84,0 20 60908969 60908969 T C exonic LAMA5 nonsynonymous SNV LAMA5:NM_005560:exon23:c.A2866G:p.T956A 0.72 0.31 0.8 0.94 0.92 0.8 0.8464 0.4139 0.8012 0.9430 0.8409 0.9152 0.8528 0.8046 0.75 0.41 0.92 0.47 0.79 rs13042941 COSM4134728 2(thyroid) . . . . . . . . . . . 0.51 0.075 T 0.0 0.026 B 0.0 0.013 B 0.265 0.152 N 1 0.090 P 0.315 0.103 N 2.2 0.186 T -0.58 0.174 N 0.014 0.002 -0.954 0.403 T 0.000 0.000 T . . . -1.706 0.013 0.002 0.500 0.042 0.074 0.133 N c -1.688 -1.654 0.094 0.162 0.707 0.730 0 -1.97 0.071 -0.008 0.126 -1.371 0.012 0.054 0.214 0.005 0.090 14.620 0.680 . . . 0.8510 0.3876 0.8084 0.9029 0.9495 0.8494 0.9214 0.8567 0.8041 0.7651 0.4091 0.8104 0.9060 0.9411 0.8495 0.9228 0.8545 hom 1092.16 37 20 60908969 . T C 1092.16 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5257;MQ=57.72;MQ0=0;QD=29.52;VQSLOD=6.1190;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:93.23:1125,93,0 20 60909060 60909060 A G exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon23:c.T2775C:p.P925P 0.76 0.45 0.81 0.94 0.92 0.79 0.8586 0.5259 0.8160 0.9475 0.8562 0.9214 0.8673 0.7973 0.8 0.54 0.93 0.7 0.9 rs13038331 COSM4134729 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8622 0.5191 0.8174 0.9036 0.9510 0.8536 0.9247 0.8633 0.7989 0.8011 0.5329 0.8162 0.9073 0.9412 0.8496 0.9237 0.8620 hom 1546.57 53 20 60909060 . A G 1546.57 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.7887;MQ=57.14;MQ0=0;QD=29.18;VQSLOD=7.1958;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:53:99:1580,129,0 20 60912683 60912683 T C exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon16:c.A2127G:p.T709T 0.74 0.39 0.81 0.94 0.92 0.79 0.8587 0.4969 0.8171 0.9489 0.8610 0.9230 0.8659 0.7965 0.78 0.49 0.93 0.64 0.53 rs2427289 COSM1412953 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8589 0.4714 0.8125 0.9065 0.9513 0.8548 0.9255 0.8625 0.7944 0.7877 0.4849 0.8103 0.9139 0.9414 0.8497 0.9239 0.8615 hom 982.47 32 20 60912683 . T C 982.47 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=60.00;MQ0=0;QD=30.70;VQSLOD=8.9940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:84.24:1015,84,0 20 60921643 60921643 T C exonic LAMA5 nonsynonymous SNV LAMA5:NM_005560:exon9:c.A1201G:p.T401A 0.86 0.61 0.85 0.96 0.98 0.97 0.9437 0.6910 0.8482 0.9676 0.9942 0.9800 0.9444 0.9696 0.88 0.69 0.98 0.84 0.79 rs4925229 COSM4909363;COSM4909364;COSM4134732 1(thyroid) . . . . . . . . . . . 0.375 0.114 T 0.4 0.330 B 0.113 0.301 B 0.000 0.537 D 0.086 0.365 P 0.26 0.099 N 0.16 0.606 T -2.06 0.471 N 0.154 0.185 -0.943 0.421 T 0.000 0.000 T . . . 2.459 0.357 19.20 0.828 0.139 0.533 0.291 D c -0.311 -0.228 1.000 0.747 0.707 0.730 0 4.63 0.570 1.372 0.336 0.964 0.580 0.934 0.322 0.950 0.426 7.138 0.246 Laminin EGF domain . . 0.9384 0.6566 0.8398 0.9257 0.9685 0.9935 0.9823 0.9379 0.9683 0.8911 0.6685 0.8628 0.9338 0.9611 0.9960 0.9842 0.9622 hom 525.64 17 20 60921643 . T C 525.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.531;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.306;QD=30.92;ReadPosRankSum=-1.531;VQSLOD=13.1967;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,16:17:26.45:559,26,0 20 60927349 60927349 C T exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon4:c.G636A:p.A212A 0.75 0.42 0.8 0.94 0.92 0.79 0.8605 0.5010 0.8111 0.9490 0.8987 0.9248 0.8801 0.7979 0.79 0.53 0.93 0.72 0.93 rs483876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8641 0.4919 0.8123 0.8999 0.9513 0.9002 0.9268 0.8729 0.7995 0.8012 0.5040 0.8126 0.9073 0.9424 0.8997 0.9282 0.8819 hom 1551.35 46 20 60927349 . C T 1551.35 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=33.72;VQSLOD=9.6348;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1584,120,0 20 60927412 60927412 G A exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon4:c.C573T:p.S191S 0.52 0.1 0.64 0.73 0.66 0.63 0.6360 0.1870 0.7050 0.7465 0.6938 0.6780 0.6597 0.6062 0.52 0.21 0.67 0.42 0.69 rs624313 COSM4785103;COSM444176;COSM4785104 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6432 0.1734 0.6991 0.6771 0.7506 0.6918 0.6756 0.6588 0.6011 0.5523 0.1837 0.6683 0.69 0.7345 0.6872 0.7006 0.6505 hom 1486.67 46 20 60927412 . G A 1486.67 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.32;VQSLOD=14.1924;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1520,117,0 20 60937597 60937597 A G exonic LAMA5 synonymous SNV LAMA5:NM_005560:exon2:c.T309C:p.C103C 0.83 0.79 0.87 0.89 0.78 0.84 0.8162 0.7737 0.9157 0.8985 0.8628 0.7888 0.8156 0.8202 0.78 0.77 0.78 0.83 0.76 rs477859 COSM3758705;COSM4785013;COSM4785012 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8202 0.7709 0.9109 0.8254 0.8976 0.8641 0.7818 0.8251 0.8089 0.8086 0.7724 0.8828 0.8212 0.8870 0.8620 0.8039 0.8167 hom 918.18 28 20 60937597 . A G 918.18 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.79;VQSLOD=14.1674;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:78.22:951,78,0 20 60966318 60966318 G T exonic CABLES2 nonsynonymous SNV CABLES2:NM_031215:exon9:c.C1283A:p.T428K 0.9 1. 0.95 0.7 0.93 0.93 0.9090 0.9859 0.9056 0.6892 0.9055 0.9230 0.9159 0.9226 0.94 0.98 0.93 0.85 0.86 rs6089219 COSM3766628 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.003 0.080 B 0.000 0.843 N 0.999 0.219 P -1.825 0.003 N 2.31 0.168 T 4.62 0.000 N 0.123 0.470 -0.953 0.405 T 0.000 0.000 T . . . 1.455 0.237 13.07 0.736 0.101 0.424 0.266 N c -0.932 -0.633 1.000 0.747 0.632 0.406 0 5.56 0.836 4.085 0.571 -0.242 0.092 1.000 0.715 0.405 0.255 12.912 0.574 Cyclin\x2c N-terminal|Cyclin-like ENSG00000101181.13|ENSG00000101181.13 Colon_Sigmoid|Thyroid 0.9077 0.9873 0.9064 0.9393 0.6843 0.9056 0.9240 0.9222 0.9248 0.9257 0.9850 0.9033 0.9536 0.6855 0.9017 0.9240 0.9141 hom 4691.03 130 20 60966318 . G T 4691.03 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8653;MQ=59.54;MQ0=0;QD=36.08;VQSLOD=9.3613;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:4691,367,0 20 60987737 60987737 C T exonic RBBP8NL nonsynonymous SNV RBBP8NL:NM_080833:exon13:c.G1819A:p.E607K 0.059 0.036 0.12 . 0.14 0.02 0.1062 0.0605 0.0742 0.0005 0.1000 0.1522 0.1321 0.0296 0.12 0.062 0.15 0.043 0.19 rs6089366 COSM3758708 1(large_intestine) . . . . . . . . . . . 0.119 0.280 T 0.056 0.214 B 0.013 0.154 B 0.603 0.109 N 1 0.090 P 1.65 0.424 L 2.01 0.213 T -1.4 0.346 N 0.089 0.086 -1.038 0.178 T 0.000 0.001 T . . . 1.470 0.239 13.15 0.981 0.379 0.155 0.187 N c -0.891 -0.956 1.000 0.747 0.581 0.326 0 2.3 0.276 -0.166 0.099 0.807 0.329 0.000 0.063 0.007 0.100 8.734 0.335 . ENSG00000149679.7 Thyroid 0.1079 0.0574 0.0873 0.1802 0.0003 0.1046 0.1518 0.1388 0.0305 0.1035 0.0547 0.0993 0.2086 0.0006 0.1083 0.1380 0.1334 het 2045.71 137 20 60987737 . C T 2045.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.130;DP=137;Dels=0.00;FS=3.148;HRun=1;HaplotypeScore=0.9989;MQ=59.56;MQ0=0;MQRankSum=1.288;QD=14.93;ReadPosRankSum=-1.236;VQSLOD=5.8947;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,73:137:99:2076,0,1760 20 60989185 60989185 C T exonic RBBP8NL nonsynonymous SNV RBBP8NL:NM_080833:exon10:c.G1222A:p.A408T 0.12 0.27 0.14 . 0.14 0.034 0.1611 0.3421 0.1212 0.0009 0.1798 0.1926 0.1799 0.0509 0.17 0.25 0.13 0.12 0.11 rs10888228 COSM3758709 1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.299 0.039 N 1 0.090 P -1.795 0.003 N 2.3 0.170 T 0.98 0.015 N 0.024 0.007 -0.957 0.398 T 0.000 0.000 T . . . 1.475 0.240 13.18 0.964 0.291 0.009 0.036 N c -1.591 -1.531 1.000 0.747 0.526 0.212 0 -1.63 0.079 -0.406 0.072 -0.916 0.026 0.000 0.063 0.000 0.016 1.239 0.018 . ENSG00000149679.7|ENSG00000149679.7 Thyroid|Whole_Blood 0.1133 0.2679 0.0918 0.1760 0.0006 0.0991 0.1372 0.1350 0.0424 0.1512 0.2579 0.0967 0.1987 0.0006 0.0991 0.1216 0.1230 het 86.37 15 20 60989185 . C T 86.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.674;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;MQRankSum=-0.674;QD=5.76;ReadPosRankSum=0.429;VQSLOD=5.2422;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:15:99:116,0,279 20 61040453 61040453 C G exonic GATA5 synonymous SNV GATA5:NM_080473:exon6:c.G981C:p.S327S 0.53 0.72 0.48 0.46 0.46 0.48 0.4965 0.6694 0.4595 0.4920 0.4878 0.4912 0.5235 0.4408 0.54 0.65 0.48 0.28 0.47 rs6061243 COSM3721897 2(liver);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4856 0.6681 0.4604 0.4207 0.4802 0.4670 0.4921 0.4783 0.4363 0.5419 0.6670 0.4617 0.4205 0.4665 0.4693 0.5042 0.4949 het 543.55 36 20 61040453 . C G 543.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.010;DP=36;Dels=0.00;FS=1.423;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.380;QD=15.10;ReadPosRankSum=1.172;VQSLOD=5.8545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,19:36:99:574,0,364 20 61040951 61040951 C T exonic GATA5 synonymous SNV GATA5:NM_080473:exon5:c.G852A:p.K284K 0.53 0.72 0.48 0.43 0.46 0.48 0.5461 0.6845 0.5418 0.5244 0.5655 0.5459 0.5856 0.4710 0.54 0.65 0.48 0.56 0.38 rs6587239 COSM149205 1(stomach);1(urinary_tract);1(liver);3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4727 0.6652 0.4560 0.4139 0.4436 0.4586 0.4787 0.4684 0.4315 0.5378 0.6703 0.4594 0.4139 0.4308 0.4642 0.4993 0.4898 het 186.42 21 20 61040951 . C T 186.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.380;DP=21;Dels=0.00;FS=7.605;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.709;QD=8.88;ReadPosRankSum=0.485;VQSLOD=4.3905;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,7:21:99:216,0,351 20 61048549 61048549 G A exonic GATA5 synonymous SNV GATA5:NM_080473:exon3:c.C609T:p.D203D 0.39 0.45 0.44 0.34 0.44 0.26 0.4429 0.4618 0.4787 0.4120 0.4961 0.4679 0.4612 0.3045 0.43 0.42 0.43 0.37 0.37 rs41305803 COSM3758711 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4062 0.4235 0.4314 0.4049 0.3686 0.4108 0.4383 0.4247 0.2714 0.4237 0.4263 0.4378 0.4205 0.3586 0.4086 0.4330 0.4104 het 252.27 23 20 61048549 . G A 252.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.722;DP=23;Dels=0.00;FS=7.025;HRun=0;HaplotypeScore=1.5226;MQ=57.11;MQ0=0;MQRankSum=1.904;QD=10.97;ReadPosRankSum=-0.657;VQSLOD=3.5545;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,11:23:99:282,0,311 20 61288038 61288038 G A exonic SLCO4A1 nonsynonymous SNV SLCO4A1:NM_016354:exon2:c.G232A:p.V78I 0.15 0.012 0.16 0.17 0.29 0.16 0.2508 0.0553 0.1528 0.2171 0.3407 0.3046 0.2649 0.2002 0.2 0.053 0.27 0.12 0.11 rs1047099 COSM3758714 2(large_intestine) . . . . . . . . . . . 0.224 0.187 T 0.051 0.210 B 0.004 0.093 B 0.033 0.018 N 1 0.090 P 1.445 0.365 L 0.95 0.433 T -0.25 0.110 N 0.057 0.040 -1.047 0.153 T 0.000 0.000 T . . . 0.695 0.160 8.793 0.976 0.341 0.150 0.185 N c -0.889 -0.923 1.000 0.467 0.646 0.450 0 1.77 0.237 0.497 0.221 -0.003 0.134 0.001 0.137 0.006 0.095 5.817 0.176 . . . 0.2172 0.0428 0.1328 0.2198 0.1782 0.2846 0.2712 0.2181 0.1793 0.2063 0.0489 0.1253 0.2433 0.1759 0.2744 0.2863 0.2495 het 319.74 32 20 61288038 . G A 319.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.756;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.95;MQ0=0;MQRankSum=0.564;QD=9.99;ReadPosRankSum=-0.097;VQSLOD=5.7563;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:350,0,559 20 61288355 61288355 G T exonic SLCO4A1 synonymous SNV SLCO4A1:NM_016354:exon2:c.G549T:p.G183G 0.15 0.016 0.16 0.17 0.29 0.18 0.2267 0.0489 0.1295 0.1832 0.2895 0.2731 0.2297 0.2158 0.2 0.058 0.27 0.14 0.2 rs3195701 COSM1412975 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2188 0.0477 0.1326 0.2209 0.1814 0.2837 0.2730 0.2240 0.1883 0.2078 0.0546 0.1268 0.2417 0.1774 0.2748 0.2859 0.2485 het 982.66 90 20 61288355 . G T 982.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.729;DP=90;Dels=0.00;FS=6.545;HRun=1;HaplotypeScore=1.9963;MQ=59.74;MQ0=0;MQRankSum=0.245;QD=10.92;ReadPosRankSum=-0.394;VQSLOD=5.2289;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,38:90:99:1013,0,1435 20 61386231 61386231 C T exonic NTSR1 synonymous SNV NTSR1:NM_002531:exon2:c.C909T:p.R303R 0.064 0.11 0.02 0.02 0.062 0.074 0.0753 0.1302 0.0288 0.0303 0.0714 0.0748 0.0921 0.0911 0.07 0.11 0.051 0.076 0.033 rs6010685 COSM3758715 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0554 0.1092 0.0242 0.0592 0.0221 0.0535 0.0566 0.0543 0.0778 0.0649 0.1040 0.0215 0.06 0.0253 0.0515 0.0531 0.0513 het 643.63 48 20 61386231 . C T 643.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.744;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5226;MQ=60.00;MQ0=0;MQRankSum=0.693;QD=13.41;ReadPosRankSum=-2.207;VQSLOD=5.2384;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,23:48:99:674,0,632 20 61440971 61440971 G A exonic OGFR synonymous SNV OGFR:NM_007346:exon4:c.G354A:p.T118T 0.06 0.017 0.058 0.048 0.046 0.15 0.0751 0.0198 0.1014 0.0654 0.1178 0.0630 0.0884 0.1267 0.044 0.018 0.058 0.076 0.033 rs1048792 COSM444182;COSM4134739;COSM4134740 1(bone);1(prostate);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0785 0.0197 0.0979 0.0922 0.0658 0.1170 0.0605 0.0774 0.1267 0.0605 0.0249 0.0883 0.1126 0.0573 0.1127 0.0652 0.0837 het 2345.68 184 20 61440971 . G A 2345.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.960;DP=184;Dels=0.00;FS=7.352;HRun=0;HaplotypeScore=4.2569;MQ=59.54;MQ0=0;MQRankSum=0.511;QD=12.75;ReadPosRankSum=2.707;VQSLOD=3.6193;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,90:184:99:2376,0,2303 20 61443870 61443870 C G exonic OGFR synonymous SNV OGFR:NM_007346:exon7:c.C903G:p.P301P 0.17 0.28 0.15 0.036 0.25 0.08 0.2827 0.3736 0.2145 0.0804 0.3715 0.3485 0.2633 0.1334 0.24 0.26 0.23 0.21 0.09 rs11086139 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1792 0.2734 0.1002 0.1251 0.0360 0.2222 0.2412 0.1851 0.1032 0.2269 0.2864 0.1014 0.1093 0.0395 0.2065 0.2285 0.2023 het 35.42 10 20 61443870 . C G 35.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-2.383;QD=3.54;ReadPosRankSum=0.000;VQSLOD=6.2407;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:65.41:65,0,194 20 61468571 61468571 T C exonic COL9A3 synonymous SNV COL9A3:NM_001853:exon30:c.T1740C:p.P580P 0.71 0.97 0.67 0.59 0.69 0.53 0.6869 0.9341 0.6588 0.5969 0.6841 0.6923 0.7036 0.5880 0.76 0.92 0.68 0.78 0.59 rs2294995 COSM4134749 1(breast);2(thyroid) Benign|Benign not_specified|Multiple_Epiphyseal_Dysplasia\x2c_Dominant RCV000252538.1|RCV000276365.1 MedGen|MedGen CN169374|CN043640 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6809 0.9362 0.6635 0.7086 0.5984 0.6784 0.6879 0.6818 0.5906 0.7507 0.9325 0.6547 0.6967 0.5842 0.6819 0.6886 0.6955 hom 1165.55 38 20 61468571 . T C 1165.55 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=30.67;VQSLOD=9.3158;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1199,111,0 20 61488785 61488785 T C exonic TCFL5 synonymous SNV TCFL5:NM_001301726:exon4:c.A1197G:p.Q399Q,TCFL5:NM_006602:exon4:c.A1200G:p.Q400Q 0.23 0.27 0.2 0.16 0.28 0.21 0.2461 0.2726 0.1231 0.1505 0.2464 0.2836 0.2346 0.2147 0.28 0.28 0.28 0.25 0.36 rs2294996 COSM3758726;COSM3758725 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2406 0.2725 0.1309 0.3342 0.1554 0.2495 0.2792 0.2424 0.2154 0.2697 0.2787 0.1499 0.2881 0.1829 0.2514 0.2843 0.2714 het 2165.21 177 20 61488785 . T C 2165.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.113;DP=177;Dels=0.00;FS=5.400;HRun=0;HaplotypeScore=1.8519;MQ=59.03;MQ0=0;MQRankSum=-0.114;QD=12.23;ReadPosRankSum=0.013;VQSLOD=5.7948;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:98,79:177:99:2195,0,2646 20 61491494 61491494 T C exonic TCFL5 nonsynonymous SNV TCFL5:NM_001301726:exon2:c.A814G:p.N272D,TCFL5:NM_006602:exon2:c.A814G:p.N272D 0.13 0.22 0.082 0.15 0.092 0.075 0.0931 0.2050 0.0448 0.1473 0.0605 0.0859 0.0861 0.0707 0.12 0.2 0.084 0.15 0.15 rs17854409 . . . . . . . Obesity-related traits . .02 23251661 rs17854409 9E-6 0.082 0.342 T 0.275 0.339 B 0.088 0.282 B 0.046 0.235 N 1 0.090 P 1.67 0.430 L 1.36 0.348 T -1.26 0.318 N 0.058 0.041 -1.011 0.265 T 0.000 0.000 T . . . 2.498 0.361 19.45 0.991 0.517 0.121 0.168 N c -0.531 -0.528 1.000 0.747 0.660 0.490 0 3.61 0.403 2.523 0.450 0.078 0.186 0.031 0.203 0.006 0.095 8.656 0.330 . ENSG00000101190.8|ENSG00000101190.8 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.0885 0.2022 0.0501 0.0982 0.1527 0.0642 0.0835 0.0816 0.0714 0.1184 0.2076 0.0597 0.0662 0.1735 0.0635 0.0786 0.1059 het 2779.34 209 20 61491494 . T C 2779.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.107;DP=209;Dels=0.00;FS=1.717;HRun=0;HaplotypeScore=2.8605;MQ=59.21;MQ0=0;MQRankSum=-1.397;QD=13.30;ReadPosRankSum=-0.676;VQSLOD=5.5630;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,108:209:99:2809,0,2404 20 61512424 61512424 C T exonic DIDO1 synonymous SNV DIDO1:NM_001193369:exon16:c.G4884A:p.G1628G,DIDO1:NM_033081:exon16:c.G4884A:p.G1628G 0.015 0.0045 0.046 . 0.032 0.0031 0.0201 0.0060 0.0199 0.0001 0.0076 0.0297 0.0329 0.0059 0.016 0.0048 0.021 0.033 0.057 rs146466196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0194 0.0054 0.0203 0.0589 0.0001 0.0088 0.0264 0.0260 0.0062 0.0149 0.0061 0.0275 0.0430 0 0.0097 0.0210 0.0235 het 112.88 11 20 61512424 . C T 112.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DP=11;Dels=0.00;FS=2.632;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-0.143;QD=10.26;ReadPosRankSum=-0.143;VQSLOD=4.7680;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:143,0,169 20 61512606 61512606 T C exonic DIDO1 nonsynonymous SNV DIDO1:NM_001193369:exon16:c.A4702G:p.T1568A,DIDO1:NM_033081:exon16:c.A4702G:p.T1568A 0.99 1. 0.99 1. 0.98 1. 0.9924 0.9972 0.9967 1 0.9953 0.9879 0.9951 0.9992 0.99 1. 0.99 0.6 0.75 rs910148 COSM3758729 1(thyroid);4(large_intestine) . . . . . . . . . . . 0.946 0.022 T 0.0 0.026 B 0.0 0.013 B 0.323 0.142 N 1 0.090 P -0.205 0.041 N 3.07 0.086 T -0.24 0.108 N 0.019 0.004 -1.051 0.142 T 0.000 0.000 T . . . -1.765 0.012 0.002 0.229 0.009 0.034 0.085 N c -1.604 -1.566 0.774 0.237 0.581 0.326 0 -0.318 0.120 0.334 0.194 -1.155 0.017 0.001 0.137 0.000 0.016 5.430 0.156 . . . 0.9920 0.9978 0.9942 0.9887 1 0.9948 0.9871 0.9915 0.9988 0.9906 0.9984 0.9940 0.9967 1 0.9957 0.9835 0.9908 hom 1538.72 45 20 61512606 . T C 1538.72 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5741;MQ=59.07;MQ0=0;QD=34.19;VQSLOD=9.0471;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1572,129,0 20 61528074 61528074 T C exonic DIDO1 synonymous SNV DIDO1:NM_001193369:exon7:c.A1863G:p.A621A,DIDO1:NM_001193370:exon7:c.A1863G:p.A621A,DIDO1:NM_033081:exon7:c.A1863G:p.A621A,DIDO1:NM_080797:exon7:c.A1863G:p.A621A 0.67 0.94 0.58 0.66 0.48 0.59 0.5701 0.8841 0.5985 0.6465 0.3798 0.5171 0.5765 0.6025 0.63 0.86 0.52 0.78 0.63 rs910149 COSM1751550 1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5631 0.8884 0.6009 0.6746 0.6468 0.3833 0.5100 0.5723 0.5989 0.5983 0.8732 0.5823 0.6854 0.6403 0.3965 0.4861 0.5020 het 1401.21 96 20 61528074 . T C 1401.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.481;DP=96;Dels=0.00;FS=0.804;HRun=0;HaplotypeScore=2.9435;MQ=59.76;MQ0=0;MQRankSum=-0.528;QD=14.60;ReadPosRankSum=-0.199;VQSLOD=5.5658;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,56:96:99:1431,0,1097 20 61528271 61528271 C T exonic DIDO1 nonsynonymous SNV DIDO1:NM_001193369:exon7:c.G1666A:p.A556T,DIDO1:NM_001193370:exon7:c.G1666A:p.A556T,DIDO1:NM_033081:exon7:c.G1666A:p.A556T,DIDO1:NM_080797:exon7:c.G1666A:p.A556T 0.28 0.3 0.31 0.33 0.19 0.26 0.2409 0.2683 0.3666 0.3218 0.1252 0.2111 0.2562 0.2588 0.23 0.26 0.21 0.26 0.28 rs1883847 COSM149207;COSM4382114 1(stomach);1(large_intestine) . . . . . . . . . . . 0.586 0.101 T 0.014 0.158 B 0.003 0.080 B 0.277 0.038 N 1 0.090 P 0.455 0.128 N 3.04 0.126 T -0.51 0.212 N 0.013 0.004 -0.929 0.442 T 0.000 0.000 T . . . -0.459 0.058 0.277 0.797 0.124 0.063 0.121 N c -1.554 -1.663 1.000 0.747 0.672 0.522 0 -8.25 0.009 -1.394 0.026 -1.242 0.015 0.000 0.063 0.000 0.016 12.688 0.561 . ENSG00000101191.12|ENSG00000101191.12 Cells_Transformed_fibroblasts|Thyroid 0.2424 0.2688 0.3528 0.3924 0.3199 0.1223 0.2000 0.2588 0.2554 0.2105 0.2587 0.3365 0.3808 0.3267 0.1284 0.1797 0.1943 het 669.46 53 20 61528271 . C T 669.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.557;DP=53;Dels=0.00;FS=1.067;HRun=0;HaplotypeScore=1.9903;MQ=58.37;MQ0=0;MQRankSum=0.525;QD=12.63;ReadPosRankSum=0.934;VQSLOD=6.0074;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,26:53:99:699,0,787 20 61528306 61528306 A G exonic DIDO1 nonsynonymous SNV DIDO1:NM_001193369:exon7:c.T1631C:p.M544T,DIDO1:NM_001193370:exon7:c.T1631C:p.M544T,DIDO1:NM_033081:exon7:c.T1631C:p.M544T,DIDO1:NM_080797:exon7:c.T1631C:p.M544T 0.49 0.44 0.5 0.63 0.39 0.5 0.4493 0.4397 0.5408 0.6134 0.3206 0.4185 0.4558 0.4783 0.42 0.43 0.41 0.46 0.52 rs1883848 COSM5424172;COSM444190 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.538 0.088 T 0.0 0.026 B 0.0 0.013 B 0.630 0.058 N 1 0.090 P -0.895 0.014 N 3.23 0.104 T 0.78 0.022 N 0.006 0.003 -0.967 0.379 T 0.000 0.000 T . . . -1.076 0.029 0.011 0.271 0.013 0.017 0.054 N c -1.445 -1.403 0.991 0.324 0.672 0.522 0 -1.16 0.091 0.862 0.274 -0.985 0.023 0.000 0.063 0.000 0.016 10.484 0.437 . ENSG00000101191.12 Artery_Aorta 0.4500 0.4307 0.5357 0.5779 0.6128 0.3178 0.4087 0.4693 0.4745 0.4126 0.4155 0.5024 0.5927 0.5954 0.3324 0.4015 0.4110 het 586.97 54 20 61528306 . A G 586.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.677;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7855;MQ=58.36;MQ0=0;MQRankSum=-0.763;QD=10.87;ReadPosRankSum=-0.173;VQSLOD=5.6469;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,25:54:99:617,0,720 20 61588159 61588159 A G exonic SLC17A9 synonymous SNV SLC17A9:NM_022082:exon2:c.A102G:p.T34T,SLC17A9:NM_001302643:exon3:c.A84G:p.T28T 0.77 0.83 0.68 0.75 0.71 0.84 0.7238 0.8125 0.6979 0.7690 0.7708 0.6873 0.7358 0.7926 0.73 0.82 0.68 0.8 0.56 rs2245341 COSM3758730;COSM5829072 1(liver);1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7174 0.8177 0.6939 0.6555 0.7713 0.7554 0.6803 0.7068 0.7902 0.7373 0.8204 0.7196 0.6424 0.7880 0.7504 0.6851 0.7094 het 420.25 38 20 61588159 . A G 420.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.036;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.14;MQ0=0;MQRankSum=-0.204;QD=11.06;ReadPosRankSum=1.752;VQSLOD=6.0258;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,19:38:99:450,0,552 20 61594679 61594679 A G exonic SLC17A9 nonsynonymous SNV SLC17A9:NM_022082:exon6:c.A683G:p.N228S,SLC17A9:NM_001302643:exon7:c.A665G:p.N222S 0.97 0.9 0.99 1. 1. 1. 0.9917 0.9035 0.9958 1 1 0.9999 0.9989 0.9999 0.97 0.92 1. 0.72 1. rs2427463 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.004 0.093 B 0.390 0.133 N 1.000 0.090 P -1.59 0.004 N 0.48 0.560 T 0.38 0.036 N 0.028 0.009 -1.021 0.233 T 0.000 0.000 T . . . -2.699 0.002 0.001 0.134 0.003 0.550 0.295 D c -1.876 -1.734 0.803 0.242 0.707 0.730 0 -1.16 0.091 0.288 0.186 -2.900 0.002 0.004 0.165 0.000 0.016 3.863 0.084 Major facilitator superfamily domain . . 0.9934 0.9041 0.9960 1 1 1 0.9998 0.9973 0.9999 0.9742 0.9098 0.9928 1 1 1 0.9999 0.9969 hom 1661.22 56 20 61594679 . A G 1661.22 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;QD=29.66;VQSLOD=8.1670;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1694,129,0 20 61598731 61598731 C T exonic SLC17A9 nonsynonymous SNV SLC17A9:NM_022082:exon13:c.C1190T:p.T397M,SLC17A9:NM_001302643:exon14:c.C1172T:p.T391M 0.042 0.092 0.066 . 0.038 0.0031 0.0265 0.0823 0.0274 0 0.0056 0.0287 0.0367 0.0055 0.046 0.083 0.028 0.087 0.074 rs7271712 . . . . . . . . . . . . . 0.016 0.524 D 0.968 0.647 D 0.619 0.558 P 0.000 0.629 N 1 0.810 D 2.53 0.740 M 0.18 0.604 T -4.67 0.795 D 0.132 0.152 -1.052 0.138 T 0.013 0.051 T . . . 6.119 0.843 28.3 0.997 0.786 0.879 0.473 D c 0.326 0.249 1.000 0.517 0.732 0.924 0 2.6 0.300 3.066 0.494 0.852 0.362 0.992 0.373 0.857 0.358 9.720 0.393 Major facilitator superfamily domain . . 0.0262 0.0848 0.0292 0.0640 0.0001 0.0072 0.0269 0.0354 0.0057 0.0403 0.0926 0.0418 0.0464 0 0.0086 0.0227 0.0224 het 4126.99 245 20 61598731 . C T 4126.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.870;DP=245;DS;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=11.6984;MQ=59.53;MQ0=0;MQRankSum=0.296;QD=16.84;ReadPosRankSum=0.809;VQSLOD=3.1269;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,135:245:99:3518,0,2784 20 61834695 61834695 G A exonic YTHDF1 synonymous SNV YTHDF1:NM_017798:exon4:c.C597T:p.A199A 0.32 0.31 0.25 0.37 0.3 0.36 0.3073 0.3202 0.2001 0.3223 0.2820 0.3083 0.3002 0.3730 0.31 0.32 0.31 0.29 0.3 rs6122103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3028 0.3144 0.2055 0.3347 0.3270 0.2960 0.3045 0.3169 0.3757 0.3035 0.3193 0.2165 0.3377 0.3509 0.2862 0.2956 0.3316 het 839.14 68 20 61834695 . G A 839.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.130;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5338;MQ=60.00;MQ0=0;MQRankSum=-0.332;QD=12.34;ReadPosRankSum=1.367;VQSLOD=5.6628;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:869,0,998 20 61869826 61869826 C T exonic BIRC7 synonymous SNV BIRC7:NM_022161:exon3:c.C528T:p.S176S,BIRC7:NM_139317:exon3:c.C528T:p.S176S 0.44 0.36 0.48 0.49 0.44 0.48 0.4741 0.3689 0.5799 0.5347 0.4251 0.4666 0.4408 0.4856 0.43 0.38 0.46 0.4 0.46 rs2273487 COSM3758732 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4773 0.3663 0.5696 0.4863 0.5256 0.4155 0.4659 0.4658 0.4892 0.4351 0.3699 0.5585 0.5166 0.5081 0.4151 0.4607 0.4438 het 1036.20 86 20 61869826 . C T 1036.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.616;DP=86;Dels=0.00;FS=0.828;HRun=1;HaplotypeScore=0.0000;MQ=59.57;MQ0=0;MQRankSum=0.260;QD=12.05;ReadPosRankSum=0.304;VQSLOD=6.7539;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,39:86:99:1066,0,1307 20 61870727 61870727 G C exonic BIRC7 nonsynonymous SNV BIRC7:NM_139317:exon6:c.G667C:p.E223Q 0.25 0.28 0.18 0.38 0.17 0.19 0.1898 0.2696 0.1563 0.3218 0.1621 0.1660 0.2016 0.2007 0.2 0.26 0.16 0.22 0.13 rs1077019 COSM444199 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.855 0.027 T 0.0 0.026 B 0.0 0.013 B 0.003 0.009 N 1 0.090 P 0 0.065 N 0.67 0.522 T 0.17 0.051 N 0.029 0.010 -0.995 0.313 T 0.000 0.000 T . . . -0.512 0.055 0.206 0.752 0.106 0.000 0.004 N c -1.415 -1.418 0.640 0.220 0.516 0.203 0 1.36 0.210 0.282 0.184 -0.459 0.055 0.001 0.137 0.002 0.062 3.218 0.063 . ENSG00000101198.10 Testis 0.1874 0.2718 0.1502 0.2019 0.3266 0.1671 0.1624 0.2006 0.2018 0.1997 0.2706 0.1615 0.1788 0.3563 0.1596 0.1541 0.1895 het 1027.93 56 20 61870727 . G C 1027.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.730;DP=56;Dels=0.00;FS=4.243;HRun=2;HaplotypeScore=2.2337;MQ=58.84;MQ0=0;MQRankSum=0.180;QD=18.36;ReadPosRankSum=1.125;VQSLOD=4.3288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,33:56:99:1058,0,527 20 61880169 61880169 T G exonic NKAIN4 nonsynonymous SNV NKAIN4:NM_152864:exon3:c.A271C:p.K91Q 0.42 0.43 0.44 0.51 0.36 0.37 0.4122 0.4331 0.5471 0.5414 0.3596 0.3816 0.3830 0.3818 0.39 0.42 0.38 0.49 0.33 rs1129659 . . . . . . . . . . . . . 0.272 0.296 T 0.003 0.139 B 0.021 0.210 B 0.000 0.629 N 1.000 0.191 P 0.805 0.203 L 2.38 0.158 T -1.64 0.456 N 0.031 0.013 -0.939 0.428 T 0.000 0.000 T . . . 0.445 0.137 6.997 0.506 0.043 0.718 0.349 D c -0.879 -0.824 0.215 0.183 0.560 0.302 0 2.24 0.271 1.603 0.362 -0.575 0.046 0.959 0.333 0.442 0.261 10.226 0.422 . ENSG00000101197.8|ENSG00000101197.8|ENSG00000101198.10|ENSG00000101197.8 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Nerve_Tibial|Whole_Blood 0.4093 0.4240 0.5300 0.3688 0.5315 0.3497 0.3770 0.3795 0.3796 0.3971 0.4212 0.5144 0.3742 0.5031 0.3509 0.3795 0.3497 het 752.29 58 20 61880169 . T G 752.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.120;DP=58;Dels=0.00;FS=1.124;HRun=0;HaplotypeScore=1.6828;MQ=58.55;MQ0=0;MQRankSum=-0.374;QD=12.97;ReadPosRankSum=-0.889;VQSLOD=6.0255;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:782,0,735 20 61881296 61881296 A G exonic NKAIN4 synonymous SNV NKAIN4:NM_152864:exon2:c.T183C:p.Y61Y 0.66 0.68 0.61 0.85 0.55 0.6 0.6094 0.6575 0.7034 0.8452 0.5612 0.5558 0.5964 0.6244 0.59 0.66 0.55 0.64 0.42 rs927081 COSM444203 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6101 0.6593 0.6856 0.5967 0.8437 0.5625 0.5506 0.5943 0.6284 0.5955 0.6504 0.6887 0.5530 0.8478 0.5478 0.5448 0.5685 hom 1785.74 61 20 61881296 . A G 1785.74 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=29.27;VQSLOD=8.7904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1819,147,0 20 61941747 61941747 A G exonic COL20A1 synonymous SNV COL20A1:NM_020882:exon11:c.A1278G:p.G426G 0.95 0.83 0.98 1. 1. 1. 0.9878 0.8607 0.9922 1 0.9998 0.9987 0.9901 0.9996 0.96 0.87 1. 0.9 . rs4809287 COSM4134777;COSM4134776;COSM4134778 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9892 0.8559 0.9919 0.9907 0.9999 0.9999 0.9991 0.9909 0.9995 0.9611 0.8646 0.9869 1 1 1 0.9995 0.9959 hom 892.26 33 20 61941747 . A G 892.26 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.04;VQSLOD=13.0298;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:69.22:925,69,0 20 61981104 61981104 C T exonic CHRNA4 synonymous SNV CHRNA4:NM_000744:exon5:c.G1659A:p.A553A,CHRNA4:NM_001256573:exon5:c.G1131A:p.A377A 0.35 0.064 0.49 0.4 0.53 0.41 0.4750 0.1294 0.5228 0.3917 0.5342 0.5317 0.4781 0.4437 0.41 0.15 0.54 0.29 0.46 rs1044397 COSM3758737 1(thyroid);1(large_intestine) other|other Nicotine_addiction\x2c_protection_against|not_specified RCV000019054.2|RCV000079314.9 MedGen|MedGen C4015943|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4828 0.1174 0.5296 0.4308 0.3912 0.5346 0.5393 0.4877 0.4376 0.4133 0.1288 0.5072 0.4172 0.3820 0.5256 0.5479 0.4611 het 724.69 57 20 61981104 . C T 724.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.991;DP=57;Dels=0.00;FS=1.708;HRun=0;HaplotypeScore=0.9159;MQ=59.19;MQ0=0;MQRankSum=1.114;QD=12.71;ReadPosRankSum=-0.569;VQSLOD=6.3962;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,26:57:99:755,0,793 20 61981134 61981134 G A exonic CHRNA4 synonymous SNV CHRNA4:NM_000744:exon5:c.C1629T:p.S543S,CHRNA4:NM_001256573:exon5:c.C1101T:p.S367S 0.32 0.061 0.49 0.27 0.53 0.41 0.4659 0.1287 0.5243 0.2591 0.5364 0.5327 0.4711 0.4426 0.41 0.15 0.54 0.28 0.4 rs1044396 COSM3758738 1(haematopoietic_and_lymphoid_tissue);1(thyroid);2(large_intestine) other|other Nicotine_addiction\x2c_protection_against|not_specified RCV000019053.2|RCV000079313.9 MedGen|MedGen C4015943|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4721 0.1164 0.5278 0.4313 0.2584 0.5316 0.5390 0.4821 0.4343 0.4043 0.1280 0.5072 0.4172 0.2444 0.5226 0.5454 0.4559 het 422.99 38 20 61981134 . G A 422.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.307;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6281;MQ=58.78;MQ0=0;MQRankSum=-1.630;QD=11.13;ReadPosRankSum=1.112;VQSLOD=5.3751;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,17:38:99:453,0,621 20 61981536 61981536 A G exonic CHRNA4 synonymous SNV CHRNA4:NM_000744:exon5:c.T1227C:p.C409C,CHRNA4:NM_001256573:exon5:c.T699C:p.C233C 0.87 0.61 0.93 1. 0.95 0.96 0.9357 0.6835 0.9637 0.9997 0.9799 0.9505 0.9521 0.9525 0.86 0.68 0.95 0.78 0.51 rs2229960 COSM4134782 1(thyroid) other not_specified RCV000079311.9 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9392 0.6446 0.9617 0.9237 0.9995 0.9769 0.9515 0.9404 0.9504 0.8779 0.6641 0.9533 0.93 1 0.9796 0.9562 0.9347 hom 413.09 15 20 61981536 . A G 413.09 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.54;VQSLOD=12.8753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:42.10:446,42,0 20 61981554 61981554 C A exonic CHRNA4 synonymous SNV CHRNA4:NM_000744:exon5:c.G1209T:p.P403P,CHRNA4:NM_001256573:exon5:c.G681T:p.P227P 0.73 0.39 0.87 0.9 0.89 0.77 0.8354 0.4992 0.9127 0.8655 0.8903 0.8738 0.8599 0.7835 0.75 0.5 0.88 0.62 0.57 rs2229959 COSM4134783 1(thyroid) other not_specified RCV000079310.9 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8423 0.4616 0.9123 0.8265 0.8677 0.8889 0.8765 0.8389 0.7805 0.7685 0.4814 0.8852 0.8543 0.8660 0.8870 0.8850 0.8333 hom 684.98 23 20 61981554 . C A 684.98 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;QD=29.78;VQSLOD=7.8966;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:60.18:718,60,0 20 61982085 61982085 A G exonic CHRNA4 synonymous SNV CHRNA4:NM_000744:exon5:c.T678C:p.C226C,CHRNA4:NM_001256573:exon5:c.T150C:p.C50C 0.86 0.6 0.93 1. 0.93 0.96 0.9196 0.6511 0.9550 0.9997 0.9486 0.9343 0.9249 0.9501 0.84 0.67 0.93 0.8 0.94 rs1044394 . . other not_specified RCV000116723.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9234 0.6426 0.9520 0.8933 0.9823 0.9440 0.9360 0.9235 0.9476 0.8480 0.6526 0.9260 0.8615 0.9704 0.9483 0.9113 0.9011 hom 4700.26 148 20 61982085 . A G 4700.26 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5132;MQ=58.38;MQ0=0;QD=31.76;VQSLOD=8.3786;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4699,397,0 20 61982124 61982124 A G exonic CHRNA4 synonymous SNV CHRNA4:NM_000744:exon5:c.T639C:p.D213D,CHRNA4:NM_001256573:exon5:c.T111C:p.D37D 0.76 0.48 0.87 0.9 0.89 0.77 0.8353 0.5335 0.9113 0.8654 0.8902 0.8730 0.8675 0.7803 0.77 0.55 0.88 0.63 0.89 rs1044393 . . other not_specified RCV000116722.4 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8463 0.5258 0.9150 0.8275 0.8683 0.8893 0.8773 0.8426 0.7815 0.7857 0.5394 0.8888 0.8543 0.865 0.8869 0.8856 0.8351 hom 5087.29 172 20 61982124 . A G 5087.29 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7516;MQ=58.14;MQ0=0;QD=29.58;VQSLOD=5.2284;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,171:172:99:5086,433,0 20 62038277 62038277 T G exonic KCNQ2 nonsynonymous SNV KCNQ2:NM_004518:exon15:c.A2255C:p.N752T,KCNQ2:NM_172106:exon16:c.A2285C:p.N762T,KCNQ2:NM_172108:exon16:c.A2246C:p.N749T,KCNQ2:NM_172107:exon17:c.A2339C:p.N780T 0.59 0.46 0.55 0.67 0.64 0.66 0.6372 0.5318 0.5337 0.6432 0.6905 0.6684 0.6160 0.6257 0.6 0.51 0.64 0.52 0.46 rs1801475 COSM3758741;COSM3758740;COSM3758739 2(thyroid);1(upper_aerodigestive_tract);1(large_intestine) Benign|Benign|Benign Benign_familial_neonatal_seizures_1|not_specified|KCNQ2-Related_Disorders RCV000020987.1|RCV000082686.9|RCV000348446.1 MedGen:OMIM|MedGen|MedGen C1852587:121200|CN169374|CN169299 . . . . . . 0.431 0.131 T 0.0 0.026 B 0.0 0.013 B 0.021 0.268 N 1 0.090 P 0 0.065 N 0.96 0.429 T 0.61 0.030 N 0.013 0.002 -0.956 0.400 T 0.000 0.000 T . . . -1.191 0.025 0.007 0.468 0.037 0.069 0.127 N c -1.105 -1.047 0.000 0.069 0.646 0.450 0 0.092 0.137 1.947 0.397 0.099 0.198 0.997 0.399 0.423 0.258 7.214 0.250 Ankyrin-G binding site;Potassium channel\x2c voltage dependent\x2c KCNQ\x2c C-terminal . . 0.6094 0.4953 0.5106 0.4958 0.6204 0.6556 0.6568 0.6109 0.6088 0.6094 0.5013 0.5012 0.4834 0.6244 0.6579 0.6665 0.6324 hom 518.41 18 20 62038277 . T G 518.41 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.80;VQSLOD=12.9420;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:48.11:551,48,0 20 62126185 62126185 A G exonic EEF1A2 synonymous SNV EEF1A2:NM_001958:exon4:c.T594C:p.G198G 0.59 0.59 0.5 0.62 0.59 0.63 0.5710 0.6038 0.3836 0.6167 0.6512 0.5725 0.5872 0.6192 0.57 0.59 0.56 0.76 0.46 rs310617 COSM444218 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);2(large_intestine) Benign not_specified RCV000424268.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5620 0.5940 0.3951 0.5676 0.6194 0.6349 0.5673 0.5726 0.6212 0.5957 0.5997 0.4414 0.5695 0.6104 0.6283 0.5934 0.5943 hom 1215.38 42 20 62126185 . A G 1215.38 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.00;MQ0=0;QD=28.94;VQSLOD=8.4223;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:42:99:1248,111,0 20 62126299 62126299 C T exonic EEF1A2 synonymous SNV EEF1A2:NM_001958:exon4:c.G480A:p.P160P 0.14 0.0068 0.11 0.43 0.14 0.046 0.1354 0.0242 0.0811 0.4187 0.2293 0.1345 0.1536 0.0598 0.099 0.033 0.13 0.11 0.11 rs2274860 . . Benign not_specified RCV000436560.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1383 0.0225 0.0812 0.1244 0.4257 0.2244 0.1329 0.1380 0.0582 0.1371 0.0266 0.0883 0.1358 0.4418 0.2188 0.1510 0.1558 het 2619.64 192 20 62126299 . C T 2619.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.196;DP=192;Dels=0.00;FS=1.910;HRun=0;HaplotypeScore=2.6195;MQ=59.40;MQ0=0;MQRankSum=1.000;QD=13.64;ReadPosRankSum=0.426;VQSLOD=6.6520;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,91:192:99:2650,0,2754 20 62187187 62187187 T C exonic FNDC11 synonymous SNV FNDC11:NM_001319152:exon2:c.T171C:p.S57S,FNDC11:NM_001319153:exon2:c.T171C:p.S57S,FNDC11:NM_024059:exon2:c.T171C:p.S57S 0.66 0.58 0.61 0.91 0.44 0.79 0.5441 0.5611 0.7077 0.9053 0.4962 0.4226 0.5445 0.7347 0.46 0.54 0.42 0.58 0.41 rs3746348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5468 0.5636 0.6897 0.4131 0.9032 0.4902 0.4205 0.4945 0.7323 0.4946 0.5537 0.6631 0.4437 0.9006 0.5060 0.4058 0.4816 het 906.96 70 20 62187187 . T C 906.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.683;DP=70;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9989;MQ=59.07;MQ0=0;MQRankSum=1.788;QD=12.96;ReadPosRankSum=0.282;VQSLOD=6.0467;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,37:70:99:937,0,851 20 62187439 62187439 T C exonic FNDC11 synonymous SNV FNDC11:NM_001319152:exon2:c.T423C:p.D141D,FNDC11:NM_001319153:exon2:c.T423C:p.D141D,FNDC11:NM_024059:exon2:c.T423C:p.D141D 0.68 0.62 0.62 0.91 0.47 0.81 0.5716 0.5872 0.7144 0.9073 0.5347 0.4583 0.5719 0.7517 0.49 0.57 0.45 0.34 0.42 rs734750 COSM3749737 1(liver);6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5746 0.5889 0.6998 0.4188 0.9043 0.5280 0.4560 0.5183 0.7462 0.5238 0.5821 0.6706 0.45 0.9006 0.5444 0.4384 0.5123 het 805.69 61 20 62187439 . T C 805.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.711;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4980;MQ=60.00;MQ0=0;MQRankSum=0.773;QD=13.21;ReadPosRankSum=-1.726;VQSLOD=5.0694;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,32:61:99:836,0,770 20 62195087 62195087 A G exonic HELZ2 synonymous SNV HELZ2:NM_033405:exon3:c.T3381C:p.S1127S,HELZ2:NM_001037335:exon9:c.T5088C:p.S1696S 0.45 0.71 0.44 0.16 0.47 0.39 0.4846 0.6983 0.4526 0.1893 0.5128 0.5016 0.5085 0.4501 0.53 0.67 0.46 0.46 0.45 rs310630 COSM444225 3(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4330 0.6801 0.4251 0.5324 0.1381 0.4429 0.4441 0.4661 0.4220 0.5011 0.6854 0.4676 0.5099 0.1400 0.4536 0.4489 0.4499 hom 522.09 20 20 62195087 . A G 522.09 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.10;VQSLOD=13.3019;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:45.11:555,45,0 20 62196253 62196253 C A exonic HELZ2 nonsynonymous SNV HELZ2:NM_033405:exon3:c.G2215T:p.V739L,HELZ2:NM_001037335:exon9:c.G3922T:p.V1308L 0.36 0.46 0.39 0.16 0.41 0.38 0.3963 0.4517 0.3964 0.1464 0.3348 0.4230 0.4124 0.4115 0.43 0.44 0.43 0.4 0.47 rs310631 COSM3758751 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.418 0.108 T 0.011 0.235 B 0.014 0.233 B 0.000 0.002 N 1 0.090 P 0.18 0.091 N 1.6 0.286 T -0.8 0.234 N 0.019 0.004 -0.934 0.436 T 0.000 0.000 T . . . -1.685 0.013 0.002 0.736 0.101 0.175 0.196 N c -1.461 -1.508 0.913 0.264 0.707 0.730 0 -3.42 0.045 -0.428 0.070 -1.941 0.005 0.000 0.063 0.000 0.016 4.661 0.119 Nucleic acid-binding\x2c OB-fold;P-loop containing nucleoside triphosphate hydrolase . . 0.3929 0.4498 0.3990 0.5026 0.1396 0.3365 0.4174 0.4155 0.4131 0.3970 0.4436 0.4077 0.4834 0.1406 0.3351 0.4105 0.3898 hom 1595.75 58 20 62196253 . C A 1595.75 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;QD=27.51;VQSLOD=8.2418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1629,132,0 20 62196807 62196807 T C exonic HELZ2 nonsynonymous SNV HELZ2:NM_033405:exon3:c.A1661G:p.H554R,HELZ2:NM_001037335:exon9:c.A3368G:p.H1123R 0.98 1. 0.97 1. 0.94 1. 0.9664 0.9915 0.9861 0.9994 0.8968 0.9531 0.9693 0.9972 0.96 0.99 0.95 0.67 0.83 rs310632 COSM444227 1(thyroid);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.463 0.124 N 1 0.090 P -0.18 0.042 N -1.14 0.779 T 2.1 0.005 N 0.025 0.007 -0.962 0.389 T 0.000 0.000 T . . . -2.381 0.004 0.001 0.390 0.027 0.014 0.047 N c -1.579 -1.477 0.852 0.250 0.635 0.413 0 2.7 0.309 -0.844 0.044 0.038 0.153 0.000 0.063 0.001 0.043 4.633 0.118 AAA+ ATPase domain|P-loop containing nucleoside triphosphate hydrolase . . 0.9657 0.9935 0.9828 0.9832 0.9998 0.8925 0.9535 0.9649 0.9972 0.9557 0.9911 0.9809 0.9934 1 0.8949 0.9433 0.9408 hom 1297.58 43 20 62196807 . T C 1297.58 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=30.18;VQSLOD=8.0098;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1331,111,0 20 62196884 62196884 A G exonic HELZ2 synonymous SNV HELZ2:NM_033405:exon3:c.T1584C:p.T528T,HELZ2:NM_001037335:exon9:c.T3291C:p.T1097T 0.97 1. 0.95 1. 0.92 0.99 0.9481 0.9880 0.9529 0.9993 0.8791 0.9313 0.9471 0.9874 0.95 0.99 0.93 0.54 0.93 rs310633 COSM3758752 1(thyroid);1(cervix);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9480 0.9903 0.9524 0.9704 0.9996 0.8707 0.9316 0.9463 0.9881 0.9402 0.9880 0.9558 0.9735 1 0.8757 0.9203 0.9254 hom 2013.39 68 20 62196884 . A G 2013.39 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.32;MQ0=0;QD=29.61;VQSLOD=7.6469;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2046,171,0 20 62198236 62198236 G A exonic HELZ2 synonymous SNV HELZ2:NM_033405:exon1:c.C768T:p.R256R,HELZ2:NM_001037335:exon7:c.C2475T:p.R825R 0.5 0.38 0.67 0.42 0.61 0.51 0.5874 0.4128 0.6821 0.4271 0.5303 0.6414 0.6092 0.5174 0.56 0.42 0.63 0.39 0.58 rs415304 COSM1751558 1(urinary_tract);1(liver);2(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5886 0.4030 0.6715 0.7098 0.4200 0.5281 0.6333 0.6240 0.5139 0.5446 0.4074 0.6480 0.7152 0.4349 0.5275 0.6281 0.5879 hom 3813.20 115 20 62198236 . G A 3813.20 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.40;MQ0=0;QD=33.16;VQSLOD=9.1053;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3813,310,0 20 62198348 62198348 C T exonic HELZ2 nonsynonymous SNV HELZ2:NM_033405:exon1:c.G656A:p.S219N,HELZ2:NM_001037335:exon7:c.G2363A:p.S788N 0.94 0.9 0.91 1. 0.88 0.99 0.9145 0.9029 0.9383 0.9994 0.7570 0.8998 0.8966 0.9833 0.9 0.9 0.9 0.9 0.92 rs438363 COSM444229 2(thyroid);1(large_intestine) . . . . . . . . . . . 0.355 0.121 T 0.006 0.126 B 0.004 0.093 B 0.278 0.038 N 1 0.090 P 0.4 0.123 N -1.6 0.822 D -0.23 0.144 N 0.003 0.000 -0.972 0.368 T 0.000 0.000 T . . . -2.048 0.007 0.001 0.605 0.063 0.038 0.090 N c -2.041 -2.152 1.000 0.747 0.672 0.522 0 -10.3 0.003 -0.777 0.047 -2.089 0.004 0.000 0.063 0.000 0.016 2.821 0.051 P-loop containing nucleoside triphosphate hydrolase . . 0.9128 0.9044 0.9342 0.9560 0.9997 0.7514 0.9014 0.9071 0.9843 0.8833 0.8993 0.9236 0.9633 1 0.7580 0.8879 0.8666 hom 4726.30 151 20 62198348 . C T 4726.30 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8100;MQ=59.45;MQ0=0;QD=31.30;VQSLOD=9.3364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:4726,385,0 20 62198662 62198662 A G exonic HELZ2 synonymous SNV HELZ2:NM_033405:exon1:c.T342C:p.Y114Y,HELZ2:NM_001037335:exon7:c.T2049C:p.Y683Y 0.94 0.91 0.91 1. 0.88 0.99 0.9181 0.9048 0.9378 0.9980 0.7705 0.9008 0.9065 0.9831 0.91 0.91 0.9 0.9 0.64 rs367440 COSM3758754 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9134 0.9046 0.9338 0.9558 0.9991 0.7485 0.9013 0.9068 0.9843 0.8837 0.9006 0.9236 0.9636 1 0.7582 0.8878 0.8663 hom 741.38 22 20 62198662 . A G 741.38 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.70;VQSLOD=13.0392;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:63.20:774,63,0 20 62200575 62200575 T C exonic HELZ2 synonymous SNV HELZ2:NM_001037335:exon5:c.A1014G:p.S338S 0.93 0.91 0.91 1. 0.88 0.99 0.9104 0.8996 0.9381 0.9994 0.7578 0.8975 0.8946 0.9800 0.9 0.9 0.9 0.72 0.88 rs1741594 COSM3758756 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9075 0.9022 0.9324 0.9538 0.9997 0.7479 0.8997 0.9074 0.9821 0.8826 0.8960 0.9224 0.9636 1 0.7587 0.8879 0.8684 hom 1134.90 44 20 62200575 . T C 1134.90 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=25.79;VQSLOD=7.7854;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1168,99,0 20 62200860 62200860 A G exonic HELZ2 synonymous SNV HELZ2:NM_001037335:exon5:c.T729C:p.A243A 0.75 0.48 0.77 0.97 0.81 0.81 0.8046 0.5348 0.7837 0.9829 0.7281 0.8295 0.8163 0.8130 0.73 0.55 0.83 0.7 0.76 rs1757752 COSM444230 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8033 0.5175 0.7806 0.8242 0.9847 0.7145 0.8334 0.8076 0.8129 0.7395 0.5297 0.7757 0.8377 0.9877 0.7251 0.8308 0.7888 hom 628.15 21 20 62200860 . A G 628.15 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.89;MQ0=0;QD=29.91;VQSLOD=8.5255;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:54.15:661,54,0 20 62221610 62221610 T C exonic GMEB2 synonymous SNV GMEB2:NM_012384:exon10:c.A1425G:p.L475L 0.83 0.66 0.86 1. 0.83 0.88 0.8472 0.7071 0.8956 0.9993 0.7415 0.8432 0.8406 0.8780 0.8 0.71 0.84 0.84 0.84 rs311496 COSM1413158 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8485 0.7069 0.8898 0.8466 0.9992 0.7313 0.8465 0.8408 0.8804 0.7966 0.6926 0.8747 0.8510 0.9988 0.7391 0.8420 0.8129 het 811.59 49 20 62221610 . T C 811.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.422;DP=49;Dels=0.00;FS=1.094;HRun=0;HaplotypeScore=0.7340;MQ=57.00;MQ0=0;MQRankSum=0.174;QD=16.56;ReadPosRankSum=-0.133;VQSLOD=3.2339;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,30:49:99:842,0,449 20 62227081 62227081 A G exonic GMEB2 synonymous SNV GMEB2:NM_012384:exon6:c.T501C:p.H167H 0.83 0.66 0.86 1. 0.83 0.88 0.8459 0.7016 0.8952 0.9984 0.7403 0.8427 0.8414 0.8777 0.8 0.71 0.84 0.84 0.84 rs311489 COSM3766637 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8480 0.7032 0.8896 0.8464 0.9990 0.7326 0.8466 0.8411 0.8802 0.7957 0.6902 0.8744 0.8510 0.9988 0.7388 0.8416 0.8156 het 772.66 87 20 62227081 . A G 772.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.026;DP=87;Dels=0.00;FS=3.099;HRun=0;HaplotypeScore=0.8667;MQ=59.09;MQ0=0;MQRankSum=0.124;QD=8.88;ReadPosRankSum=-1.404;VQSLOD=5.9767;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,37:87:99:803,0,1324 20 62236148 62236148 T C exonic GMEB2 synonymous SNV GMEB2:NM_012384:exon3:c.A177G:p.A59A 0.67 0.55 0.68 0.62 0.92 0.64 0.7988 0.6131 0.5379 0.6018 0.8657 0.9120 0.8056 0.7178 0.81 0.62 0.91 0.75 0.91 rs6090471 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7935 0.6048 0.5540 0.8822 0.6072 0.8706 0.9160 0.8227 0.7192 0.7981 0.6103 0.6139 0.8808 0.5939 0.8729 0.9173 0.8449 het 1230.68 126 20 62236148 . T C 1230.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.434;DP=126;Dels=0.00;FS=3.272;HRun=1;HaplotypeScore=1.9981;MQ=59.07;MQ0=0;MQRankSum=-0.038;QD=9.77;ReadPosRankSum=-1.088;VQSLOD=6.1370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,55:126:99:1261,0,1764 20 62320968 62320968 T C exonic RTEL1 synonymous SNV RTEL1:NM_001283010:exon22:c.T1323C:p.D441D,RTEL1:NM_001283009:exon23:c.T1992C:p.D664D,RTEL1:NM_016434:exon23:c.T1992C:p.D664D,RTEL1:NM_032957:exon23:c.T2064C:p.D688D 0.72 0.97 0.71 0.3 0.79 0.73 0.7486 0.9405 0.7279 0.2860 0.8003 0.7828 0.7494 0.7280 0.83 0.93 0.77 0.75 0.76 rs6062302 . . Benign not_specified RCV000454461.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7440 0.9448 0.7358 0.7572 0.2863 0.8034 0.7800 0.7657 0.7295 0.8019 0.9387 0.7470 0.7649 0.2797 0.7919 0.7849 0.8014 het 380.90 36 20 62320968 . T C 380.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.053;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;MQRankSum=-0.050;QD=10.58;ReadPosRankSum=1.205;VQSLOD=6.4370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,18:36:99:411,0,401 20 62321655 62321655 G A exonic RTEL1 synonymous SNV RTEL1:NM_001283010:exon25:c.G1605A:p.A535A,RTEL1:NM_001283009:exon26:c.G2274A:p.A758A,RTEL1:NM_016434:exon26:c.G2274A:p.A758A,RTEL1:NM_032957:exon26:c.G2346A:p.A782A 0.7 0.9 0.71 0.29 0.8 0.73 0.7411 0.8783 0.7232 0.2763 0.8000 0.7813 0.7443 0.7268 0.81 0.88 0.77 0.75 0.71 rs2236506 . . Benign not_specified RCV000455713.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7384 0.8819 0.7322 0.7505 0.2789 0.8036 0.7794 0.7616 0.7292 0.7824 0.8745 0.7387 0.7583 0.2707 0.7919 0.7841 0.7955 het 579.98 44 20 62321655 . G A 579.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.645;DP=44;Dels=0.00;FS=1.283;HRun=0;HaplotypeScore=0.9933;MQ=60.00;MQ0=0;MQRankSum=-0.246;QD=13.18;ReadPosRankSum=-1.678;VQSLOD=5.3784;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,22:44:99:610,0,594 20 62327199 62327199 A G exonic RTEL1 synonymous SNV RTEL1:NM_001283009:exon35:c.A3891G:p.P1297P 0.027 0.0023 0.045 . 0.077 0.026 0.0923 0.0235 0.0718 0.0013 0.1361 0.1343 0.0714 0.0406 0.069 0.02 0.094 0.065 0.074 rs1056990 COSM4134808 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0594 0.0144 0.0312 0.0700 0.0002 0.0632 0.0897 0.0703 0.0342 0.0606 0.0171 0.0346 0.0728 0 0.0607 0.0929 0.0724 het 234.64 14 20 62327199 . A G 234.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.636;DP=14;Dels=0.00;FS=5.021;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.636;QD=16.76;ReadPosRankSum=1.344;VQSLOD=5.1612;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,10:14:99:265,0,109 20 62328267 62328267 C T exonic TNFRSF6B synonymous SNV TNFRSF6B:NM_003823:exon1:c.C147T:p.C49C 0.26 0.024 0.26 0.65 0.2 0.25 0.2564 0.0624 0.2656 0.6548 0.2082 0.2267 0.2617 0.2669 0.17 0.069 0.22 0.11 0.16 rs2257440 COSM3758775;COSM3758776 3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2525 0.0543 0.2506 0.2406 0.6424 0.1991 0.2252 0.2318 0.2595 0.1967 0.0615 0.2470 0.2233 0.6551 0.2089 0.2198 0.1973 het 120.97 11 20 62328267 . C T 120.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6344;MQ=60.00;MQ0=0;MQRankSum=0.717;QD=11.00;ReadPosRankSum=-0.466;VQSLOD=5.0329;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:50.02:151,0,50 20 62328375 62328375 A G exonic TNFRSF6B synonymous SNV TNFRSF6B:NM_003823:exon1:c.A255G:p.L85L 0.97 1. 0.96 0.99 0.91 0.95 0.9384 0.9867 0.9373 0.9932 0.9406 0.9218 0.9449 0.9460 0.94 0.98 0.92 0.98 0.84 rs2738787 COSM3758778;COSM3758777 2(large_intestine) Benign not_specified RCV000454695.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9389 0.9870 0.9364 0.9581 0.9945 0.9394 0.9197 0.9373 0.9478 0.9428 0.9854 0.9496 0.9470 0.9988 0.9398 0.9132 0.9264 hom 1051.64 34 20 62328375 . A G 1051.64 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.49;MQ0=0;QD=30.93;VQSLOD=8.0929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:84.26:1085,84,0 20 62328742 62328742 C T exonic TNFRSF6B synonymous SNV TNFRSF6B:NM_003823:exon2:c.C486T:p.S162S 0.26 0.024 0.26 0.65 0.2 0.25 0.2587 0.0669 0.2719 0.6457 0.2259 0.2309 0.272 0.2673 0.17 0.07 0.23 0.11 0.18 rs909341 COSM1178475 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2458 0.0540 0.2476 0.2294 0.6370 0.1945 0.2209 0.2256 0.2512 0.1963 0.0610 0.2482 0.2219 0.6509 0.2092 0.2196 0.1976 het 322.87 24 20 62328742 . C T 322.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.375;DP=24;Dels=0.00;FS=3.834;HRun=1;HaplotypeScore=0.8941;MQ=57.25;MQ0=0;MQRankSum=0.637;QD=13.45;ReadPosRankSum=-0.348;VQSLOD=4.3916;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,13:24:99:353,0,307 20 62328829 62328829 C G exonic TNFRSF6B synonymous SNV TNFRSF6B:NM_003823:exon2:c.C573G:p.T191T 0.26 0.024 0.26 0.65 0.2 0.25 0.2670 0.0770 0.2853 0.6111 0.2334 0.2557 0.2987 0.2701 0.17 0.069 0.22 0.12 0.12 rs1291205 COSM1413174 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2399 0.0521 0.2400 0.2244 0.6243 0.1896 0.2127 0.2206 0.2519 0.1971 0.0613 0.2482 0.2219 0.6527 0.2092 0.2208 0.1977 het 353.12 18 20 62328829 . C G 353.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.099;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.887;QD=19.62;ReadPosRankSum=-0.296;VQSLOD=6.5461;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,13:18:99:383,0,131 20 62340115 62340115 C G exonic ZGPAT nonsynonymous SNV ZGPAT:NM_001083113:exon2:c.C183G:p.S61R,ZGPAT:NM_001195653:exon2:c.C183G:p.S61R,ZGPAT:NM_001195654:exon2:c.C183G:p.S61R,ZGPAT:NM_032527:exon2:c.C183G:p.S61R,ZGPAT:NM_181485:exon2:c.C183G:p.S61R 0.97 1. 0.96 0.99 0.92 0.99 0.9462 0.9872 0.9391 0.9942 0.9442 0.9253 0.9477 0.9845 0.94 0.98 0.92 0.99 0.81 rs1291212 COSM444235 2(thyroid) . . . . . . . . . . . 0.259 0.166 T 0.001 0.067 B 0.0 0.013 B 0.001 0.412 N 1.000 0.090 P -0.625 0.021 N 1.45 0.325 T 1.16 0.013 N 0.086 0.081 -1.017 0.245 T 0.000 0.000 T . . . 1.276 0.218 12.15 0.975 0.338 0.131 0.175 N c -1.014 -0.834 1.000 0.747 0.726 0.872 0 1.2 0.201 0.091 0.148 -0.324 0.076 0.957 0.332 0.718 0.314 4.951 0.133 . . . 0.9454 0.9874 0.9366 0.9580 0.9951 0.9426 0.9232 0.9403 0.9851 0.9473 0.9858 0.9463 0.9470 0.9988 0.9447 0.9205 0.9388 hom 3100.21 94 20 62340115 . C G 3100.21 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2633;MQ=59.06;MQ0=0;QD=32.98;VQSLOD=8.9824;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3133,250,0 20 62372813 62372813 G A exonic SLC2A4RG synonymous SNV SLC2A4RG:NM_020062:exon3:c.G372A:p.P124P 0.97 1. 0.96 0.99 0.92 0.99 0.9456 0.9873 0.9387 0.9940 0.9447 0.9250 0.9498 0.9818 0.94 0.98 0.92 0.99 0.88 rs2427536 COSM4134813 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9448 0.9873 0.9364 0.9563 0.9950 0.9427 0.9229 0.9390 0.9823 0.9473 0.9857 0.9463 0.9533 0.9988 0.9448 0.9206 0.9366 hom 1260.49 41 20 62372813 . G A 1260.49 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=30.74;VQSLOD=9.1399;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1293,99,0 20 62373707 62373707 G T exonic SLC2A4RG nonsynonymous SNV SLC2A4RG:NM_020062:exon6:c.G699T:p.E233D 0.72 0.96 0.71 0.37 0.75 0.73 0.7208 0.9246 0.6966 0.3746 0.7683 0.7382 0.7195 0.7061 0.79 0.91 0.73 0.74 0.64 rs8957 COSM444237 2(large_intestine);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.02 0.170 B 0.008 0.127 B 0.036 0.246 U 0.998 0.223 P 1.215 0.307 L -2.17 0.866 D 0.59 0.026 N 0.031 0.012 -0.910 0.469 T 0.000 0.000 T . . . 0.288 0.122 5.578 0.885 0.174 0.789 0.387 D c -0.778 -0.657 1.000 0.747 0.707 0.730 0 1.27 0.205 0.481 0.218 0.902 0.416 0.999 0.424 0.926 0.400 2.532 0.044 . . . 0.7162 0.9277 0.7057 0.7339 0.3786 0.7671 0.7344 0.7282 0.7051 0.7721 0.9231 0.7136 0.7333 0.3738 0.7583 0.7367 0.7479 het 274.20 29 20 62373707 . G T 274.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.762;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6208;MQ=57.73;MQ0=0;MQRankSum=-0.395;QD=9.46;ReadPosRankSum=0.395;VQSLOD=4.8066;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,13:29:99:304,0,461 20 62378349 62378349 C T exonic ZBTB46 synonymous SNV ZBTB46:NM_025224:exon5:c.G1704A:p.E568E 0.27 0.15 0.38 0.35 0.34 0.21 0.3426 0.1890 0.5131 0.3650 0.4041 0.3558 0.3213 0.2247 0.28 0.18 0.33 0.36 0.26 rs5019252 COSM1566143 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3423 0.1725 0.4921 0.3368 0.3622 0.3758 0.3457 0.3417 0.2196 0.3010 0.1747 0.4606 0.4040 0.3605 0.3780 0.3362 0.3429 het 627.91 36 20 62378349 . C T 627.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.449;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.462;QD=17.44;ReadPosRankSum=0.684;VQSLOD=12.8300;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,20:36:99:658,0,410 20 62378364 62378364 C T exonic ZBTB46 synonymous SNV ZBTB46:NM_025224:exon5:c.G1689A:p.A563A 0.27 0.14 0.38 0.35 0.35 0.21 0.3470 0.1789 0.5122 0.3627 0.4309 0.3634 0.3199 0.2251 0.28 0.17 0.34 0.35 0.28 rs12625387 COSM1566142 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3501 0.1648 0.4954 0.3365 0.3612 0.4093 0.3560 0.3524 0.2222 0.3088 0.1693 0.4606 0.4067 0.3581 0.4113 0.3471 0.3555 het 680.89 45 20 62378364 . C T 680.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.990;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4942;MQ=60.00;MQ0=0;MQRankSum=-0.853;QD=15.13;ReadPosRankSum=0.330;VQSLOD=6.1679;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,24:45:99:711,0,557 20 62378405 62378405 C T exonic ZBTB46 nonsynonymous SNV ZBTB46:NM_025224:exon5:c.G1648A:p.E550K . . . . . . 2.61e-05 0 0 0.0001 0 3.192e-05 0 0 . . . . . rs752830911 COSM4954142 2(liver) . . . . . . . . . . . 0.597 0.057 T 0.016 0.161 B 0.001 0.040 B 0.005 0.334 N 0.779 0.293 N 1.525 0.387 L 2.79 0.112 T -1.76 0.416 N 0.177 0.215 -1.060 0.116 T 0.021 0.088 T 0.031 0.532 D 2.753 0.392 21.1 0.967 0.302 0.847 0.435 D c -0.447 -0.344 1.000 0.747 0.696 0.567 0 3.95 0.448 4.286 0.585 0.768 0.311 0.999 0.424 0.043 0.159 14.990 0.709 . . . 2.519e-05 0 0 0 5.86e-05 0 4.648e-05 0 0 . . . . . . . . het 506.95 62 20 62378405 . C T 506.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.822;DP=62;Dels=0.00;FS=1.053;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.408;QD=8.18;ReadPosRankSum=0.816;VQSLOD=4.1789;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,23:62:99:537,0,1016 20 62595169 62595169 A G exonic ZNF512B synonymous SNV ZNF512B:NM_020713:exon9:c.T1578C:p.L526L 0.49 0.75 0.43 0.055 0.57 0.55 0.5364 0.7384 0.3993 0.0411 0.6095 0.5747 0.5078 0.5828 0.63 0.73 0.57 0.55 0.61 rs817325 COSM3758781 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5240 0.7402 0.4071 0.4161 0.0394 0.6104 0.5813 0.5195 0.5810 0.6028 0.7319 0.3995 0.4367 0.0396 0.6191 0.6002 0.5912 het 4439.11 220 20 62595169 . A G 4439.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.732;DP=220;Dels=0.00;FS=4.896;HRun=0;HaplotypeScore=5.9263;MQ=59.05;MQ0=0;MQRankSum=0.663;QD=20.18;ReadPosRankSum=-1.790;VQSLOD=2.6497;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,138:220:99:3900,0,1888 20 62597694 62597694 T G exonic ZNF512B synonymous SNV ZNF512B:NM_020713:exon5:c.A834C:p.V278V 0.49 0.75 0.43 0.055 0.57 0.55 0.5354 0.7357 0.3992 0.0410 0.6095 0.5736 0.5055 0.5812 0.62 0.73 0.57 0.46 0.61 rs817329 COSM1130578 1(prostate);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5234 0.7367 0.4063 0.4159 0.0394 0.6096 0.5811 0.5184 0.5796 0.6022 0.7302 0.3983 0.4371 0.0404 0.6192 0.5995 0.5912 het 4447.28 250 20 62597694 . T G 4447.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.676;DP=250;DS;Dels=0.00;FS=8.646;HRun=0;HaplotypeScore=11.1758;MQ=58.92;MQ0=0;MQRankSum=-0.144;QD=17.79;ReadPosRankSum=-0.403;VQSLOD=2.6536;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:124,124:250:99:3686,0,3536 20 62598815 62598815 C T exonic ZNF512B synonymous SNV ZNF512B:NM_020713:exon3:c.G183A:p.P61P 0.32 0.44 0.25 0.052 0.38 0.42 0.3614 0.4537 0.2930 0.0367 0.4477 0.3815 0.3422 0.4074 0.4 0.45 0.37 0.41 0.33 rs817330 COSM1413222 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3530 0.4496 0.2921 0.2410 0.0357 0.4508 0.3844 0.3317 0.4050 0.3981 0.4523 0.2825 0.2533 0.0358 0.4625 0.3992 0.4143 het 2068.52 184 20 62598815 . C T 2068.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.191;DP=184;Dels=0.00;FS=3.419;HRun=0;HaplotypeScore=6.4763;MQ=59.18;MQ0=0;MQRankSum=0.488;QD=11.24;ReadPosRankSum=-0.999;VQSLOD=4.8241;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,79:184:99:2099,0,2761 20 62607160 62607160 C T exonic SAMD10 synonymous SNV SAMD10:NM_080621:exon4:c.G471A:p.A157A 0.26 0.47 0.17 0.046 0.18 0.35 0.2222 0.4680 0.1736 0.0499 0.1880 0.1981 0.2392 0.2971 0.25 0.42 0.17 0.35 0.16 rs817343 COSM444243 1(upper_aerodigestive_tract);1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1979 0.4496 0.1562 0.1817 0.0394 0.1675 0.1823 0.1925 0.2869 0.2486 0.4531 0.1647 0.1755 0.0481 0.1769 0.1788 0.1810 het 777.28 45 20 62607160 . C T 777.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.622;DP=45;Dels=0.00;FS=5.755;HRun=0;HaplotypeScore=1.9198;MQ=60.00;MQ0=0;MQRankSum=0.521;QD=17.27;ReadPosRankSum=-0.683;VQSLOD=4.8752;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,27:45:99:807,0,433 20 62641605 62641605 G A exonic PRPF6 synonymous SNV PRPF6:NM_012469:exon10:c.G1239A:p.L413L 0.0028 . 0.0043 . 0.0089 0.002 0.0120 0.0034 0.0035 0 0.0130 0.0184 0.0088 0.0031 0.011 0.0045 0.014 . 0.0082 rs41278236 . . Likely benign Retinitis_Pigmentosa\x2c_Dominant RCV000298212.1 MedGen CN239354 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0119 0.0031 0.0034 0.0231 0 0.0138 0.0185 0.0117 0.0037 0.0144 0.0025 0.0012 0.0298 0.0006 0.0183 0.0224 0.0132 het 2558.48 177 20 62641605 . G A 2558.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.373;DP=177;DS;Dels=0.00;FS=1.180;HRun=0;HaplotypeScore=2.3113;MQ=59.17;MQ0=0;MQRankSum=0.104;QD=14.45;ReadPosRankSum=-0.295;VQSLOD=5.9502;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,94:177:99:2588,0,2353 20 62714783 62714783 C G exonic LKAAEAR1 synonymous SNV LKAAEAR1:NM_001007125:exon2:c.G678C:p.A226A 0.62 0.64 0.66 0.71 0.65 0.46 0.6124 0.6503 0.6868 0.6754 0.6877 0.6152 0.6469 0.4652 0.63 0.64 0.62 0.67 0.58 rs6010717 COSM444246 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6204 0.6419 0.6913 0.6703 0.6849 0.6831 0.6126 0.6354 0.4609 0.6423 0.6411 0.6957 0.6367 0.6572 0.6811 0.6300 0.6327 hom 763.39 24 20 62714783 . C G 763.39 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;QD=31.81;VQSLOD=9.1143;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:63.20:796,63,0 20 62729431 62729431 C T exonic OPRL1 synonymous SNV OPRL1:NM_001318854:exon2:c.C495T:p.V165V,OPRL1:NM_001318855:exon2:c.C423T:p.V141V,OPRL1:NM_000913:exon3:c.C510T:p.V170V,OPRL1:NM_182647:exon4:c.C510T:p.V170V,OPRL1:NM_001200019:exon5:c.C510T:p.V170V 0.12 0.11 0.095 0.15 0.15 0.062 0.1320 0.1071 0.0747 0.1493 0.1547 0.1516 0.1481 0.0904 0.14 0.11 0.16 0.11 0.16 rs2229205 COSM3758784 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1320 0.1053 0.0832 0.1339 0.1578 0.1520 0.1533 0.1334 0.0913 0.1399 0.1033 0.0921 0.1026 0.1519 0.1516 0.1611 0.1319 het 1859.43 154 20 62729431 . C T 1859.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.877;DP=154;Dels=0.00;FS=0.634;HRun=1;HaplotypeScore=7.0874;MQ=59.23;MQ0=0;MQRankSum=0.462;QD=12.07;ReadPosRankSum=-0.057;VQSLOD=4.9903;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,74:154:99:1889,0,2269 20 62737318 62737318 G A exonic NPBWR2 synonymous SNV NPBWR2:NM_005286:exon1:c.C867T:p.P289P 0.45 0.35 0.52 0.61 0.48 0.33 0.4697 0.3647 0.6243 0.6053 0.5370 0.4631 0.5304 0.3524 0.43 0.36 0.47 0.41 0.46 rs13036542 COSM4134819 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4837 0.3630 0.6137 0.5067 0.6128 0.5378 0.4631 0.5013 0.3544 0.4625 0.3656 0.5811 0.4901 0.5907 0.5249 0.4827 0.4703 het 1098.72 98 20 62737318 . G A 1098.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.225;DP=98;Dels=0.00;FS=5.799;HRun=0;HaplotypeScore=2.4947;MQ=56.62;MQ0=0;MQRankSum=2.185;QD=11.21;ReadPosRankSum=-1.263;VQSLOD=3.0286;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,39:98:99:1129,0,1613 20 62737537 62737537 C A exonic NPBWR2 synonymous SNV NPBWR2:NM_005286:exon1:c.G648T:p.T216T 0.085 0.019 0.089 0.082 0.14 0.12 0.1037 0.0328 0.0446 0.0812 0.1067 0.1252 0.1076 0.1136 0.09 0.034 0.12 0.11 0.098 rs4809400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1016 0.0308 0.0495 0.1677 0.0769 0.1038 0.1223 0.0994 0.1107 0.0905 0.0348 0.0692 0.1887 0.0705 0.1062 0.1181 0.1268 het 1021.61 65 20 62737537 . C A 1021.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.620;DP=65;Dels=0.00;FS=5.045;HRun=2;HaplotypeScore=1.9941;MQ=59.65;MQ0=0;MQRankSum=-0.350;QD=15.72;ReadPosRankSum=0.284;VQSLOD=5.5475;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,36:65:99:1052,0,840 20 62737568 62737568 T C exonic NPBWR2 nonsynonymous SNV NPBWR2:NM_005286:exon1:c.A617G:p.Q206R 0.089 0.023 0.094 0.086 0.14 0.12 0.1075 0.0364 0.0456 0.0850 0.1315 0.1285 0.1148 0.1135 0.094 0.038 0.12 0.087 0.098 rs4809401 . . . . . . . . . . . . . 0.67 0.046 T 0.0 0.026 B 0.001 0.040 B 0.012 0.292 N 1.000 0.090 P 0.03 0.081 N 1.25 0.365 T -0.23 0.107 N 0.012 0.002 -0.989 0.330 T 0.000 0.001 T . . . -1.579 0.015 0.002 0.296 0.016 0.021 0.062 N c -1.734 -1.690 0.954 0.280 0.403 0.052 0 0.669 0.170 -0.444 0.069 -2.594 0.002 0.000 0.063 0.001 0.043 8.207 0.304 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000171700.9|ENSG00000171700.9 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.1061 0.0347 0.0508 0.1677 0.0803 0.1310 0.1251 0.1051 0.1105 0.0968 0.0390 0.0704 0.1887 0.0727 0.1345 0.1213 0.1344 het 992.99 71 20 62737568 . T C 992.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.288;DP=71;Dels=0.00;FS=6.456;HRun=2;HaplotypeScore=0.7887;MQ=59.68;MQ0=0;MQRankSum=0.340;QD=13.99;ReadPosRankSum=1.020;VQSLOD=5.4819;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,38:71:99:1023,0,859 20 62850358 62850358 C T exonic MYT1 synonymous SNV MYT1:NM_004535:exon12:c.C1941T:p.L647L 0.08 0.023 0.082 0.069 0.13 0.11 0.1126 0.0456 0.0807 0.0669 0.0835 0.1336 0.0995 0.1275 0.1 0.045 0.13 0.11 0.13 rs41279348 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1091 0.0409 0.0857 0.0745 0.0635 0.0813 0.1369 0.0983 0.1264 0.0975 0.0435 0.0859 0.0828 0.0711 0.0836 0.1361 0.0969 het 1243.08 86 20 62850358 . C T 1243.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.680;DP=86;Dels=0.00;FS=6.150;HRun=1;HaplotypeScore=2.8639;MQ=60.00;MQ0=0;MQRankSum=-2.082;QD=14.45;ReadPosRankSum=-0.313;VQSLOD=3.6321;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,45:86:99:1273,0,1244 20 62896665 62896665 G A exonic PCMTD2 synonymous SNV PCMTD2:NM_001104925:exon4:c.G465A:p.P155P,PCMTD2:NM_018257:exon4:c.G465A:p.P155P 0.11 0.12 0.11 0.075 0.16 0.075 0.1236 0.1038 0.1049 0.0707 0.1013 0.1464 0.1178 0.0938 0.13 0.093 0.16 0.11 0.2 rs17878941 COSM3740240 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1226 0.1029 0.1083 0.0990 0.0718 0.0991 0.1520 0.1202 0.0951 0.1271 0.1010 0.1241 0.0933 0.0823 0.1025 0.1549 0.1090 het 1598.17 121 20 62896665 . G A 1598.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.727;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;MQRankSum=1.123;QD=13.21;ReadPosRankSum=-0.268;VQSLOD=6.4816;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,60:121:99:1628,0,1529 21 10920098 10920098 T C exonic TPTE nonsynonymous SNV TPTE:NM_001290224:exon14:c.A742G:p.K248E,TPTE:NM_199260:exon17:c.A1042G:p.K348E,TPTE:NM_199259:exon18:c.A1102G:p.K368E,TPTE:NM_199261:exon19:c.A1156G:p.K386E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -1.442 -1.202 0.001 0.077 0.487 0.133 0 2.32 0.278 2.454 0.444 -0.051 0.123 1.000 0.715 0.875 0.366 5.284 0.149 Dual specificity phosphatase\x2c catalytic domain|Protein-tyrosine phosphatase-like|Tensin phosphatase\x2c lipid phosphatase domain;Protein-tyrosine phosphatase-like|Tensin phosphatase\x2c lipid phosphatase domain . . . . . . . . . . . . . . . . . . . hom 3744.50 118 21 10920098 . T C 3744.50 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;QD=31.73;VQSLOD=8.5406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3744,292,0 21 10942923 10942923 G A exonic TPTE nonsynonymous SNV TPTE:NM_001290224:exon7:c.C250T:p.R84W,TPTE:NM_199260:exon10:c.C550T:p.R184W,TPTE:NM_199259:exon11:c.C610T:p.R204W,TPTE:NM_199261:exon12:c.C664T:p.R222W . . . . . . 0.1584 0.0333 0.3145 0.2555 0.0999 0.1504 0.1533 0.1344 . . . 0.087 0.041 rs76723236 COSM4592337;COSM4592338 5(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1225 0.0184 0.2663 0.1165 0.2070 0.0626 0.1072 0.1226 0.0979 0.0787 0.0191 0.1939 0.0815 0.1872 0.0658 0.1020 0.0929 het 854.58 130 21 10942923 . G A 854.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.569;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5065;MQ=59.17;MQ0=0;MQRankSum=-0.484;QD=6.57;ReadPosRankSum=1.108;VQSLOD=3.8780;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,38:130:99:885,0,2402 21 15481365 15481365 G T exonic LIPI nonsynonymous SNV LIPI:NM_001303001:exon8:c.C1043A:p.T348K,LIPI:NM_001302999:exon9:c.C1242A:p.D414E,LIPI:NM_001302998:exon10:c.C1332A:p.D444E,LIPI:NM_001303000:exon10:c.C1314A:p.D438E,LIPI:NM_198996:exon10:c.C1395A:p.D465E 0.52 0.5 0.54 0.51 0.5 0.55 0.5009 0.5012 0.4838 0.5125 0.5175 0.4928 0.5099 0.5322 0.5 0.51 0.49 0.42 0.52 rs7278737 COSM5001918 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P . . . -2.07 0.860 D 2.16 0.003 N 0.027 0.009 -0.978 0.354 T 0.000 0.000 T . . . -1.386 0.020 0.003 0.697 0.088 0.001 0.004 N c -1.728 -1.630 0.005 0.106 0.554 0.283 0 0.125 0.140 0.208 0.171 -0.364 0.068 0.214 0.242 0.865 0.361 3.814 0.083 . . . 0.5017 0.5030 0.4930 0.4514 0.5170 0.5205 0.4955 0.4786 0.5310 0.5135 0.5163 0.5157 0.4633 0.5131 0.5147 0.5127 0.5102 het 1735.74 146 21 15481365 . G T 1735.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.420;DP=146;Dels=0.00;FS=3.963;HRun=1;HaplotypeScore=1.9662;MQ=59.62;MQ0=0;MQRankSum=-1.241;QD=11.89;ReadPosRankSum=0.325;VQSLOD=5.9260;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,71:146:99:1766,0,1732 21 15516948 15516948 C T exonic LIPI nonsynonymous SNV LIPI:NM_001302999:exon8:c.G1201A:p.E401K,LIPI:NM_001302998:exon9:c.G1291A:p.E431K,LIPI:NM_001303000:exon9:c.G1273A:p.E425K,LIPI:NM_198996:exon9:c.G1354A:p.E452K 0.32 0.55 0.4 0.053 0.33 0.2 0.3193 0.5445 0.2785 0.0515 0.3291 0.3471 0.3215 0.2326 0.4 0.53 0.34 0.35 0.27 rs2822432 COSM4134845 1(thyroid) . . . . . . . . . . . 0.066 0.361 T 0.317 0.311 B 0.23 0.365 B 0.460 0.124 U 0.934 0.270 P 1.83 0.482 L -2.45 0.889 D -2.77 0.587 D 0.206 0.253 -0.979 0.352 T 0.000 0.000 T . . . 7.212 0.946 34 0.999 0.937 0.724 0.352 D c 0.078 0.202 0.046 0.147 0.487 0.133 0 5.34 0.759 1.084 0.302 0.935 0.490 1.000 0.715 1.000 0.888 14.904 0.702 . ENSG00000228314.1|ENSG00000224905.2|ENSG00000249493.1 Artery_Tibial|Esophagus_Mucosa|Esophagus_Mucosa 0.3101 0.5412 0.2815 0.3746 0.0497 0.3201 0.3401 0.3442 0.2262 0.3772 0.5382 0.3110 0.4172 0.0558 0.3282 0.3367 0.3094 het 997.93 69 21 15516948 . C T 997.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DP=69;Dels=0.00;FS=2.860;HRun=3;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;MQRankSum=-0.799;QD=14.46;ReadPosRankSum=1.760;VQSLOD=5.5649;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,36:69:99:1028,0,1004 21 15516976 15516976 T A exonic LIPI nonsynonymous SNV LIPI:NM_001302999:exon8:c.A1173T:p.R391S,LIPI:NM_001302998:exon9:c.A1263T:p.R421S,LIPI:NM_001303000:exon9:c.A1245T:p.R415S,LIPI:NM_198996:exon9:c.A1326T:p.R442S 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.99 0.95 rs7283442 COSM4590519 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3017.32 106 21 15516976 . T A 3017.32 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9874;MQ=58.73;MQ0=0;QD=28.47;VQSLOD=7.2378;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3050,238,0 21 15524921 15524921 C T exonic LIPI nonsynonymous SNV LIPI:NM_001302999:exon7:c.G1001A:p.G334E,LIPI:NM_001302998:exon8:c.G1091A:p.G364E,LIPI:NM_001303000:exon8:c.G1073A:p.G358E,LIPI:NM_198996:exon8:c.G1154A:p.G385E 0.094 0.0068 0.13 0.25 0.02 0.1 0.0711 0.0100 0.1888 0.2761 0.0383 0.0248 0.0655 0.0947 0.015 0.0071 0.019 0.054 0.0082 rs74369337 COSM5427577 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.998 0.715 D 0.939 0.657 D 0.000 0.629 D 0.991 0.241 P 2.05 0.567 M -2.41 0.885 D -5.55 0.862 D 0.289 0.560 -1.300 0.000 T 0.001 0.002 T . . . 5.692 0.777 26.8 0.995 0.650 0.368 0.254 N c 0.365 0.259 0.036 0.142 0.487 0.133 0 5.16 0.704 2.147 0.416 0.848 0.348 0.637 0.278 0.628 0.294 14.869 0.700 . . . 0.0684 0.0083 0.1724 0.0075 0.2742 0.0371 0.0212 0.0503 0.0859 0.0395 0.0092 0.1555 0.0033 0.2814 0.0357 0.0255 0.0521 het 671.98 42 21 15524921 . C T 671.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.312;DP=42;Dels=0.00;FS=2.913;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.417;QD=16.00;ReadPosRankSum=1.181;VQSLOD=5.5220;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,27:42:99:702,0,322 21 15558346 15558346 G A exonic LIPI synonymous SNV LIPI:NM_001302998:exon3:c.C477T:p.S159S,LIPI:NM_001302999:exon3:c.C477T:p.S159S,LIPI:NM_001303000:exon3:c.C477T:p.S159S,LIPI:NM_001303001:exon3:c.C477T:p.S159S,LIPI:NM_198996:exon3:c.C540T:p.S180S 0.18 0.048 0.11 0.27 0.22 0.27 0.2028 0.0757 0.1142 0.2477 0.2087 0.2172 0.1960 0.2599 0.17 0.075 0.22 0.087 0.18 rs397517 COSM4001986 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2007 0.0718 0.1133 0.2207 0.2434 0.2139 0.2187 0.1751 0.2591 0.1833 0.0819 0.1053 0.1854 0.2460 0.2160 0.2302 0.2168 het 2169.88 208 21 15558346 . G A 2169.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.406;DP=208;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.9706;MQ=58.30;MQ0=0;MQRankSum=0.679;QD=10.43;ReadPosRankSum=0.552;VQSLOD=5.4077;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:114,94:208:99:2200,0,2790 21 15596772 15596772 T G exonic RBM11 nonsynonymous SNV RBM11:NM_001320602:exon4:c.T346G:p.L116V,RBM11:NM_144770:exon4:c.T346G:p.L116V 0.76 0.71 0.7 0.73 0.84 0.8 0.8136 0.7646 0.7917 0.7812 0.8305 0.8349 0.8289 0.7988 0.8 0.76 0.82 0.83 . rs409782 COSM4419591 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.497 0.051 N 1 0.090 P 0 0.065 N 3.13 0.080 T -0.19 0.100 N 0.004 0.000 -1.020 0.239 T 0.000 0.000 T . . . 0.008 0.094 2.659 0.254 0.012 0.001 0.005 N c -1.557 -1.579 0.000 0.060 0.615 0.372 0 0.149 0.141 -0.847 0.044 -0.790 0.032 0.000 0.063 0.991 0.552 . . . ENSG00000185272.9|ENSG00000185272.9 Lung|Thyroid 0.7904 0.7376 0.7187 0.8359 0.7400 0.8310 0.8143 0.7795 0.8019 0.7872 0.7434 0.7333 0.7767 0.7444 0.8253 0.8118 0.7832 hom 435.46 14 21 15596772 . T G 435.46 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=31.10;VQSLOD=9.3636;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:468,36,0 21 15873026 15873026 T C exonic SAMSN1 nonsynonymous SNV SAMSN1:NM_022136:exon6:c.A592G:p.T198A,SAMSN1:NM_001256370:exon7:c.A796G:p.T266A,SAMSN1:NM_001286523:exon7:c.A385G:p.T129A 0.006 0.0008 0.02 . 0.015 . 0.0132 0.0035 0.0078 0 0.0041 0.0209 0.0122 0.0023 0.019 0.0057 0.025 . 0.074 rs62227165 COSM3758803;COSM3758804 1(large_intestine) . . . . . . . . . . . 0.048 0.586 D 0.954 0.715 P 0.761 0.807 P 0.000 0.843 D 0.998 0.447 D 0.9 0.233 L 1.55 0.299 T -1.37 0.340 N 0.117 0.153 -1.010 0.269 T 0.066 0.271 T . . . 3.520 0.481 23.1 0.998 0.876 0.956 0.650 D c 0.501 0.557 1.000 0.747 0.706 0.609 0 5.77 0.910 4.238 0.582 1.061 0.807 1.000 0.715 1.000 0.888 16.090 0.808 SH3 domain|Variant SH3 domain;Sterile alpha motif domain|Sterile alpha motif/pointed domain . . 0.0139 0.0031 0.0096 0.0237 0 0.0038 0.0230 0.0212 0.0021 0.0125 0.0038 0.0119 0.0298 0 0.0049 0.0200 0.0173 het 1772.20 163 21 15873026 . T C 1772.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.728;DP=163;Dels=0.00;FS=6.847;HRun=0;HaplotypeScore=2.1790;MQ=58.49;MQ0=0;MQRankSum=0.052;QD=10.87;ReadPosRankSum=-0.005;VQSLOD=4.3456;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,74:163:99:1802,0,2333 21 15918577 15918577 G C exonic SAMSN1 synonymous SNV SAMSN1:NM_022136:exon1:c.C6G:p.L2L 0.3 0.37 0.19 0.29 0.25 0.36 0.2586 0.3619 0.1358 0.2726 0.2234 0.2463 0.2685 0.3387 0.28 0.36 0.24 0.28 0.2 rs7281104 COSM3758805 1(bone);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2507 0.3606 0.1420 0.3065 0.2770 0.2283 0.2396 0.2491 0.3388 0.2633 0.3515 0.1571 0.2867 0.2711 0.2327 0.2253 0.2388 het 940.42 79 21 15918577 . G C 940.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.693;DP=79;Dels=0.00;FS=2.992;HRun=0;HaplotypeScore=0.9159;MQ=59.42;MQ0=0;MQRankSum=0.467;QD=11.90;ReadPosRankSum=-0.476;VQSLOD=6.7934;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,37:79:99:970,0,1011 21 16339172 16339172 G C exonic NRIP1 nonsynonymous SNV NRIP1:NM_003489:exon4:c.C1342G:p.R448G 0.039 0.0038 0.056 . 0.098 0.052 0.0805 0.0172 0.0345 0.0010 0.1031 0.1073 0.0738 0.0770 0.075 0.018 0.1 0.022 0.11 rs2229742 COSM4989756 1(soft_tissue) . . . . . . . . . . . 0.019 0.501 D 0.999 0.764 D 0.964 0.693 D 0.000 0.843 D 1.000 0.498 D 2.645 0.776 M 2.11 0.199 T -6.55 0.918 D 0.322 0.383 -1.229 0.000 T 0.004 0.014 T . . . 5.372 0.728 25.9 0.998 0.862 0.937 0.586 D c 0.543 0.535 1.000 0.747 0.707 0.730 0 5.16 0.704 1.923 0.395 1.045 0.669 1.000 0.715 0.984 0.507 14.515 0.673 Nuclear receptor-interacting protein 1\x2c repression domain 2 . . 0.0798 0.0158 0.0365 0.1154 0.0012 0.1043 0.1069 0.0818 0.0750 0.0732 0.0187 0.0453 0.0960 0.0037 0.1022 0.1056 0.0900 het 1748.26 126 21 16339172 . G C 1748.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.984;DP=126;Dels=0.00;FS=3.457;HRun=1;HaplotypeScore=1.9290;MQ=59.22;MQ0=0;MQRankSum=2.720;QD=13.88;ReadPosRankSum=-0.541;VQSLOD=5.0260;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,65:126:99:1778,0,1559 21 16340289 16340289 C T exonic NRIP1 synonymous SNV NRIP1:NM_003489:exon4:c.G225A:p.G75G 0.6 0.78 0.55 0.77 0.4 0.41 0.4972 0.7340 0.6071 0.7925 0.4396 0.4216 0.4813 0.4471 0.52 0.72 0.42 0.59 0.51 rs2229741 COSM1130565 1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5006 0.7426 0.6056 0.4287 0.7981 0.4410 0.4245 0.4684 0.4464 0.5398 0.7317 0.5971 0.4570 0.7952 0.4384 0.4285 0.4510 hom 1236.13 39 21 16340289 . C T 1236.13 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=31.70;VQSLOD=8.5545;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1269,108,0 21 19169155 19169155 G C exonic C21orf91 nonsynonymous SNV C21orf91:NM_001100420:exon3:c.C408G:p.D136E,C21orf91:NM_001100421:exon3:c.C408G:p.D136E,C21orf91:NM_017447:exon3:c.C408G:p.D136E 0.26 0.043 0.31 0.34 0.4 0.3 0.3190 0.0778 0.3251 0.3510 0.4082 0.3429 0.3089 0.3096 0.26 0.071 0.34 0.26 0.3 rs1047978 . . . . . . . . . . . . . 0.053 0.433 T 0.946 0.528 P 0.41 0.472 B 0.000 0.843 D 0.010 0.411 P 2.045 0.562 M 1.83 0.248 T -3.14 0.640 D 0.12 0.175 -0.919 0.457 T 0.000 0.000 T . . . 3.649 0.496 23.2 0.995 0.708 0.922 0.548 D c 0.273 0.283 1.000 0.451 0.722 0.854 0 3.36 0.374 0.915 0.281 1.048 0.713 1.000 0.715 1.000 0.888 9.608 0.386 . . . 0.3248 0.0745 0.3288 0.3140 0.3419 0.3999 0.3458 0.3378 0.3059 0.2773 0.0893 0.3150 0.2867 0.3514 0.4101 0.3416 0.3378 hom 4541.70 143 21 19169155 . G C 4541.70 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9601;MQ=59.10;MQ0=0;QD=31.76;VQSLOD=9.2265;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4541,346,0 21 19651357 19651357 A G exonic TMPRSS15 synonymous SNV TMPRSS15:NM_002772:exon23:c.T2688C:p.C896C 0.11 0.22 0.068 0.044 0.1 0.09 0.1086 0.2017 0.0541 0.0377 0.0528 0.1202 0.0954 0.1152 0.13 0.18 0.1 0.18 0.09 rs17698445 COSM3758809 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0920 0.1826 0.0594 0.1012 0.0363 0.0483 0.1025 0.1050 0.1078 0.1123 0.1819 0.0752 0.1192 0.0396 0.0443 0.0991 0.0731 het 491.90 47 21 19651357 . A G 491.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.969;DP=47;Dels=0.00;FS=1.134;HRun=0;HaplotypeScore=1.9984;MQ=57.20;MQ0=0;MQRankSum=-0.223;QD=10.47;ReadPosRankSum=-0.670;VQSLOD=4.5982;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,23:47:99:522,0,551 21 19670118 19670118 G A exonic TMPRSS15 nonsynonymous SNV TMPRSS15:NM_002772:exon19:c.C2194T:p.P732S 0.7 0.67 0.72 0.64 0.76 0.73 0.7543 0.7084 0.6827 0.6633 0.8102 0.7914 0.7329 0.7097 0.76 0.71 0.78 0.72 0.64 rs2824721 COSM4001990 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.010 0.303 N 1 0.090 P -2.625 0.000 N 0.86 0.468 T 1.39 0.009 N 0.035 0.226 -0.962 0.388 T 0.000 0.000 T . . . -0.607 0.050 0.120 0.108 0.001 0.001 0.006 N c -1.152 -0.971 0.002 0.089 0.487 0.133 0 5.67 0.876 2.277 0.428 0.236 0.261 0.637 0.278 0.009 0.108 8.62 0.328 SRCR domain|SRCR-like domain . . 0.7521 0.7067 0.6936 0.7311 0.6626 0.8098 0.7903 0.7544 0.7146 0.7602 0.7019 0.7064 0.7616 0.6663 0.8157 0.7935 0.7714 het 822.37 75 21 19670118 . G A 822.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DP=75;Dels=0.00;FS=3.299;HRun=0;HaplotypeScore=0.9332;MQ=57.37;MQ0=0;MQRankSum=1.325;QD=10.96;ReadPosRankSum=-0.569;VQSLOD=4.7290;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,34:75:99:852,0,1106 21 19756040 19756040 C G exonic TMPRSS15 nonsynonymous SNV TMPRSS15:NM_002772:exon4:c.G400C:p.E134Q 0.23 0.25 0.29 0.088 0.31 0.2 0.2598 0.2464 0.2736 0.0900 0.2685 0.2887 0.2878 0.2258 0.27 0.24 0.29 0.25 0.29 rs2824790 COSM3758811 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.015 0.524 D 0.906 0.480 P 0.567 0.479 P 0.043 0.238 N 0.998 0.222 P 2.125 0.592 M 1.11 0.389 T -1.15 0.303 N 0.067 0.195 -0.997 0.306 T 0.000 0.000 T . . . 3.255 0.450 22.8 0.992 0.545 0.738 0.358 D c 0.089 0.102 0.361 0.198 0.487 0.133 0 1.98 0.252 0.898 0.278 0.077 0.185 1.000 0.715 1.000 0.888 8.051 0.296 SEA domain . . 0.2575 0.2483 0.2665 0.3376 0.0857 0.2624 0.2829 0.2841 0.2232 0.2609 0.2467 0.3091 0.3543 0.0933 0.2603 0.2831 0.2551 het 526.45 39 21 19756040 . C G 526.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.436;DP=39;Dels=0.00;FS=1.302;HRun=0;HaplotypeScore=5.4774;MQ=57.61;MQ0=0;MQRankSum=0.239;QD=13.50;ReadPosRankSum=-0.239;VQSLOD=4.4739;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:19,20:39:99:556,0,556 21 22746187 22746187 T C exonic NCAM2 nonsynonymous SNV NCAM2:NM_004540:exon9:c.T1049C:p.L350P 0.39 0.38 0.29 0.58 0.35 0.31 0.3500 0.3779 0.2398 0.5808 0.2998 0.3493 0.3438 0.3120 0.36 0.37 0.35 0.39 0.31 rs232518 . . . . . . . . . . . . . 0.224 0.187 T 0.0 0.026 B 0.001 0.040 B 0.000 0.445 N 0.024 0.392 P -0.295 0.036 N 1.5 0.312 T 0.57 0.026 N 0.045 0.025 -0.917 0.460 T 0.000 0.000 T . . . 2.319 0.340 18.29 0.981 0.380 0.300 0.238 N c -0.582 -0.364 0.572 0.215 0.554 0.246 0 4.54 0.551 1.006 0.292 0.016 0.142 0.977 0.347 0.961 0.442 6.180 0.196 Immunoglobulin I-set|Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.3456 0.3778 0.2424 0.3692 0.5801 0.3098 0.3512 0.3296 0.3103 0.3636 0.3704 0.2837 0.3467 0.5832 0.3181 0.3553 0.3126 het 737.77 73 21 22746187 . T C 737.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.917;DP=73;Dels=0.00;FS=6.902;HRun=2;HaplotypeScore=1.5253;MQ=57.22;MQ0=0;MQRankSum=0.906;QD=10.11;ReadPosRankSum=0.461;VQSLOD=4.3134;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,32:73:99:768,0,1033 21 26965148 26965148 G A exonic MRPL39 synonymous SNV MRPL39:NM_017446:exon8:c.C897T:p.G299G,MRPL39:NM_080794:exon8:c.C897T:p.G299G 0.73 0.73 0.82 0.72 0.81 0.61 0.7728 0.7510 0.7142 0.7258 0.7880 0.8184 0.7764 0.6619 0.8 0.75 0.83 0.78 0.84 rs1135638 COSM5618719;COSM5618718 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7737 0.7512 0.7231 0.8490 0.7333 0.7866 0.8174 0.7942 0.6666 0.7873 0.7421 0.7410 0.8841 0.7199 0.7878 0.8204 0.8037 hom 2041.56 68 21 26965148 . G A 2041.56 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;QD=30.02;VQSLOD=8.8866;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2075,162,0 21 26965205 26965205 T C exonic MRPL39 synonymous SNV MRPL39:NM_017446:exon8:c.A840G:p.V280V,MRPL39:NM_080794:exon8:c.A840G:p.V280V 0.73 0.73 0.82 0.72 0.81 0.61 0.7729 0.7509 0.7144 0.7258 0.7884 0.8185 0.7759 0.6618 0.8 0.75 0.83 0.77 0.84 rs1057885 COSM5618720;COSM5618721 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7736 0.7510 0.7233 0.8488 0.7333 0.7864 0.8172 0.7946 0.6668 0.7869 0.7417 0.7410 0.8841 0.7190 0.7875 0.8201 0.8016 hom 2995.24 105 21 26965205 . T C 2995.24 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3969;MQ=58.34;MQ0=0;QD=28.53;VQSLOD=7.2112;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3028,229,0 21 26969703 26969703 T C exonic MRPL39 synonymous SNV MRPL39:NM_017446:exon6:c.A612G:p.K204K,MRPL39:NM_080794:exon6:c.A612G:p.K204K 0.73 0.73 0.82 0.72 0.81 0.61 0.7817 0.7568 0.7289 0.7351 0.8047 0.8266 0.7816 0.6745 0.8 0.75 0.83 0.77 0.42 rs1135618 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7747 0.7507 0.7217 0.8482 0.7329 0.7974 0.8187 0.7973 0.6648 0.7897 0.7412 0.7410 0.8841 0.7188 0.7993 0.8231 0.8051 hom 998.54 32 21 26969703 . T C 998.54 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.20;VQSLOD=13.5186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:78.25:1032,78,0 21 26978950 26978950 A G exonic MRPL39 nonsynonymous SNV MRPL39:NM_017446:exon2:c.T91C:p.S31P,MRPL39:NM_080794:exon2:c.T91C:p.S31P 0.91 0.76 0.96 0.95 0.95 0.98 0.9461 0.7919 0.9707 0.9599 0.9590 0.9552 0.9615 0.9752 0.9 0.8 0.96 0.91 0.91 rs3989369 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.063 B 0.041 0.240 N 1 0.090 P -1.74 0.003 N 1.01 0.411 T 0.48 0.032 N 0.037 0.169 -0.969 0.375 T 0.000 0.000 T . . . 0.217 0.115 4.860 0.138 0.003 0.020 0.059 N c -1.364 -1.256 1.000 0.414 0.660 0.490 0 1.36 0.210 0.260 0.181 -0.340 0.072 0.124 0.230 0.127 0.198 2.414 0.041 . ENSG00000154719.9|ENSG00000154719.9|ENSG00000154719.9|ENSG00000154719.9 Artery_Aorta|Artery_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.9493 0.7867 0.9695 0.9667 0.9598 0.9604 0.9534 0.9480 0.9739 0.9079 0.7849 0.9581 0.9834 0.9513 0.9642 0.9544 0.9520 hom 1594.69 57 21 26978950 . A G 1594.69 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=58.19;MQ0=0;QD=27.98;VQSLOD=7.6912;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1628,123,0 21 28212760 28212760 G A exonic ADAMTS1 synonymous SNV ADAMTS1:NM_006988:exon5:c.C1500T:p.P500P 0.57 0.7 0.44 0.39 0.65 0.57 0.6203 0.6782 0.3836 0.3973 0.7106 0.6828 0.5940 0.5773 0.68 0.68 0.68 0.56 0.65 rs436525 COSM4417417 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6077 0.6772 0.3985 0.6813 0.3901 0.7068 0.6772 0.6001 0.5775 0.6671 0.6745 0.4402 0.7185 0.3800 0.7108 0.6946 0.6745 het 645.33 48 21 28212760 . G A 645.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.908;DP=48;Dels=0.00;FS=1.143;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.867;QD=13.44;ReadPosRankSum=-0.660;VQSLOD=6.3454;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,23:48:99:675,0,770 21 28216595 28216595 C G exonic ADAMTS1 nonsynonymous SNV ADAMTS1:NM_006988:exon1:c.G679C:p.A227P 0.69 0.93 0.49 0.45 0.74 0.7 0.7246 0.8951 0.4419 0.4451 0.7969 0.7765 0.7278 0.7331 0.81 0.89 0.77 0.7 0.72 rs428785 COSM444321 1(thyroid) . . . . . . . . . . . 0.269 0.161 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P 1.24 0.311 L 0.02 0.623 T -0.78 0.216 N 0.103 0.107 -1.037 0.183 T 0.000 0.000 T . . . 0.840 0.174 9.706 0.857 0.155 0.016 0.052 N c -1.169 -1.192 1.000 0.747 0.733 0.969 0 -0.151 0.127 -0.102 0.108 -0.020 0.129 0.000 0.063 0.000 0.016 4.101 0.094 . . . 0.7031 0.8958 0.4586 0.7619 0.4305 0.7921 0.7716 0.7057 0.7099 0.7850 0.8875 0.5155 0.7967 0.4069 0.8024 0.7794 0.7454 het 354.08 33 21 28216595 . C G 354.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.323;DP=33;Dels=0.00;FS=3.436;HRun=1;HaplotypeScore=1.8499;MQ=60.00;MQ0=0;MQRankSum=-0.855;QD=10.73;ReadPosRankSum=0.133;VQSLOD=5.2829;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,14:33:99:384,0,540 21 28216692 28216692 G T exonic ADAMTS1 synonymous SNV ADAMTS1:NM_006988:exon1:c.C582A:p.V194V 0.68 0.89 0.49 0.45 0.74 0.7 0.7327 0.8716 0.4745 0.4821 0.8200 0.7852 0.7229 0.7150 0.83 0.89 0.8 0.58 0.47 rs445784 COSM3758814 1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6956 0.8632 0.4539 0.7541 0.4304 0.7969 0.7729 0.6977 0.7060 0.7758 0.8546 0.5084 0.7881 0.4081 0.8017 0.7801 0.7469 het 271.15 18 21 28216692 . G T 271.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.359;DP=18;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=0.7340;MQ=58.71;MQ0=0;MQRankSum=-0.453;QD=15.06;ReadPosRankSum=-0.680;VQSLOD=5.1856;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,11:18:94.20:301,0,94 21 28302355 28302355 A G exonic ADAMTS5 nonsynonymous SNV ADAMTS5:NM_007038:exon7:c.T2075C:p.L692P 0.81 0.98 0.73 0.5 0.89 0.88 0.8402 0.9667 0.6670 0.4667 0.8419 0.8912 0.8557 0.8690 0.91 0.96 0.89 0.85 0.93 rs226794 COSM4417064 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.001 0.459 P -1.735 0.003 N 0.97 0.425 T 9.26 0.000 N 0.153 0.182 -0.936 0.433 T 0.000 0.000 T . . . 0.449 0.137 7.032 0.608 0.064 0.077 0.135 N c -0.853 -0.590 1.000 0.747 0.554 0.283 0 5.97 0.969 7.691 0.833 0.138 0.222 1.000 0.715 0.216 0.221 15.465 0.750 . . . 0.8301 0.9669 0.6813 0.8809 0.4675 0.8466 0.8932 0.8488 0.8684 0.8765 0.9603 0.7267 0.8974 0.4876 0.8489 0.8857 0.8504 het 3075.36 249 21 28302355 . A G 3075.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.700;DP=249;DS;Dels=0.00;FS=0.492;HRun=1;HaplotypeScore=3.7835;MQ=59.40;MQ0=0;MQRankSum=-0.181;QD=12.35;ReadPosRankSum=-0.610;VQSLOD=6.2594;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,115:249:99:3105,0,3849 21 30250555 30250555 T C exonic N6AMT1 nonsynonymous SNV N6AMT1:NM_182749:exon4:c.A413G:p.K138R,N6AMT1:NM_013240:exon5:c.A497G:p.K166R 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs2205446 COSM4590356 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2628.96 83 21 30250555 . T C 2628.96 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.80;MQ0=0;QD=31.67;VQSLOD=8.8980;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2662,208,0 21 30250615 30250615 T C exonic N6AMT1 nonsynonymous SNV N6AMT1:NM_182749:exon4:c.A353G:p.K118R,N6AMT1:NM_013240:exon5:c.A437G:p.K146R 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.98 1. rs2205447 COSM4590320 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3929.90 129 21 30250615 . T C 3929.90 Mask AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=58.55;MQ0=0;QD=30.46;VQSLOD=8.1090;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,129:129:99:3929,298,0 21 30257560 30257560 C G exonic N6AMT1 synonymous SNV N6AMT1:NM_013240:exon1:c.G108C:p.L36L,N6AMT1:NM_182749:exon1:c.G108C:p.L36L 0.78 0.81 0.74 0.53 0.88 0.93 0.8395 0.8352 0.6802 0.5116 0.9109 0.8779 0.8781 0.9413 0.87 0.84 0.88 0.77 0.71 rs1997606 COSM3758818 2(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8403 0.8328 0.6962 0.8920 0.5298 0.9152 0.8793 0.8608 0.9409 0.8450 0.8230 0.7026 0.9040 0.5186 0.9124 0.8823 0.8730 het 2631.36 210 21 30257560 . C G 2631.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.322;DP=210;DS;Dels=0.00;FS=1.229;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;MQRankSum=2.448;QD=12.53;ReadPosRankSum=-1.448;VQSLOD=4.4023;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:108,102:210:99:2661,0,3123 21 30257568 30257568 T C exonic N6AMT1 nonsynonymous SNV N6AMT1:NM_013240:exon1:c.A100G:p.N34D,N6AMT1:NM_182749:exon1:c.A100G:p.N34D 1. 1. 1. 1. 1. 1. 0.9999 1 0.9999 1 0.9998 0.9999 1 1 . . . 1. 0.87 rs1997607 COSM4590030 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 6524.93 201 21 30257568 . T C 6524.93 Mask AC=2;AF=1.00;AN=2;DP=201;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=32.46;VQSLOD=9.8228;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,201:201:99:6524,518,0 21 30339120 30339120 C A exonic LTN1 nonsynonymous SNV LTN1:NM_001320766:exon10:c.G1831T:p.G611C,LTN1:NM_015565:exon10:c.G1831T:p.G611C 0.19 0.087 0.26 0.38 0.18 0.11 0.1722 0.0906 0.2871 0.3828 0.1228 0.1618 0.1589 0.0960 0.14 0.096 0.16 0.17 0.16 rs34191159 . . . . . . . . . . . . . 0.006 0.632 D 0.997 0.689 D 0.781 0.555 P 0.954 0.083 N 1 0.090 P 1.935 0.520 L 2.16 0.253 T -0.93 0.249 N 0.136 0.312 -0.909 0.470 T 0.000 0.000 T . . . 1.883 0.287 15.48 0.989 0.475 0.208 0.210 N c -0.556 -0.704 0.106 0.165 0.707 0.730 0 1.97 0.252 1.024 0.295 -0.327 0.075 0.013 0.187 0.004 0.083 6.509 0.213 . ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156261.8|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000198862.9|ENSG00000156253.2|ENSG00000156253.2|ENSG00000232855.2|ENSG00000236056.1 Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood 0.1764 0.0903 0.2791 0.1537 0.3759 0.1204 0.1612 0.1796 0.0973 0.1483 0.0921 0.2806 0.14 0.3724 0.1260 0.1545 0.1527 het 508.38 56 21 30339120 . C A 508.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.415;DP=56;Dels=0.00;FS=1.118;HRun=0;HaplotypeScore=0.8321;MQ=59.33;MQ0=0;MQRankSum=0.799;QD=9.08;ReadPosRankSum=1.932;VQSLOD=5.2400;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,23:56:99:538,0,852 21 30339234 30339234 T C exonic LTN1 nonsynonymous SNV LTN1:NM_001320766:exon10:c.A1717G:p.S573G,LTN1:NM_015565:exon10:c.A1717G:p.S573G 0.15 0.042 0.22 0.38 0.12 0.048 0.1332 0.0521 0.2671 0.3829 0.0886 0.1174 0.1167 0.0427 0.097 0.063 0.11 0.13 0.14 rs61735768 COSM149215 1(stomach);1(large_intestine) . . . . . . . . . . . 0.041 0.424 D 0.0 0.026 B 0.001 0.040 B 0.002 0.380 N 1 0.090 P 2.3 0.659 M 2.19 0.247 T -1.64 0.393 N 0.081 0.138 -0.954 0.403 T 0.000 0.000 T . . . 0.704 0.161 8.855 0.993 0.589 0.288 0.234 N c -0.528 -0.426 0.984 0.306 0.707 0.730 0 4.83 0.617 2.424 0.441 0.964 0.580 0.080 0.221 0.974 0.471 10.160 0.418 . ENSG00000215533.4|ENSG00000215533.4|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156256.10|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156253.2|ENSG00000236056.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Thyroid|Whole_Blood 0.1388 0.0529 0.2576 0.1159 0.3754 0.0848 0.1172 0.1375 0.0441 0.1119 0.0565 0.2637 0.0993 0.3722 0.0880 0.1135 0.1135 het 820.38 71 21 30339234 . T C 820.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.648;DP=71;Dels=0.00;FS=7.355;HRun=1;HaplotypeScore=0.9832;MQ=59.83;MQ0=0;MQRankSum=-0.030;QD=11.55;ReadPosRankSum=0.150;VQSLOD=4.7657;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:42,28:71:99:850,0,1229 21 30341891 30341891 A G exonic LTN1 nonsynonymous SNV LTN1:NM_001320766:exon9:c.T1346C:p.L449S,LTN1:NM_015565:exon9:c.T1346C:p.L449S 0.72 0.86 0.66 0.83 0.6 0.57 0.5918 0.8228 0.6397 0.8207 0.4983 0.5459 0.5564 0.5175 0.64 0.81 0.55 0.71 0.46 rs2254796 COSM3758819 1(breast);1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 1.000 0.090 P -2.445 0.001 N 3.73 0.643 T 4.49 0.000 N 0.034 0.015 -0.962 0.388 T 0.000 0.000 T . . . 0.792 0.170 9.417 0.278 0.014 0.031 0.079 N c -0.787 -0.519 0.978 0.298 0.707 0.730 0 4.91 0.638 4.621 0.607 0.138 0.222 1.000 0.715 0.994 0.587 11.069 0.470 Armadillo-type fold ENSG00000156239.7|ENSG00000198862.9|ENSG00000198862.9|ENSG00000198862.9|ENSG00000156265.11|ENSG00000156253.2|ENSG00000156253.2|ENSG00000156261.8|ENSG00000156265.11|ENSG00000198862.9|ENSG00000156253.2|ENSG00000198862.9|ENSG00000156261.8|ENSG00000156265.11 Adipose_Subcutaneous|Brain_Cerebellum|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5912 0.8226 0.6505 0.5558 0.8232 0.4920 0.5506 0.5799 0.5141 0.6406 0.8168 0.6400 0.5695 0.8088 0.4989 0.5604 0.5491 het 894.30 74 21 30341891 . A G 894.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.914;DP=74;Dels=0.00;FS=2.385;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=-1.174;QD=12.09;ReadPosRankSum=-0.446;VQSLOD=6.2815;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,33:74:99:924,0,1181 21 31538692 31538692 C T exonic CLDN17 nonsynonymous SNV CLDN17:NM_012131:exon1:c.G244A:p.A82T 0.1 0.013 0.094 0.21 0.1 0.11 0.0944 0.0266 0.0981 0.1866 0.0807 0.0882 0.1013 0.1162 0.069 0.03 0.088 0.076 0.066 rs35531957 COSM4134869 1(thyroid) . . . . . . . . . . . 0.004 0.654 D 0.997 0.689 D 0.978 0.725 D 0.000 0.629 N 0.000 0.516 P 2.66 0.781 M -2.66 0.903 D -3.04 0.628 D 0.225 0.276 -1.012 0.262 T 0.011 0.040 T . . . 6.862 0.929 33 0.999 0.997 0.990 0.900 D c 0.835 0.799 1.000 0.747 0.487 0.133 0 5.22 0.722 7.859 0.853 0.935 0.490 0.996 0.391 0.871 0.364 18.951 0.926 . . . 0.0978 0.0224 0.0949 0.1900 0.1933 0.0775 0.0845 0.1125 0.1154 0.0719 0.0286 0.1038 0.1722 0.1947 0.0741 0.0788 0.0835 het 1733.25 147 21 31538692 . C T 1733.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.519;DP=147;Dels=0.00;FS=1.313;HRun=0;HaplotypeScore=3.2867;MQ=59.69;MQ0=0;MQRankSum=-0.992;QD=11.79;ReadPosRankSum=-0.706;VQSLOD=5.9707;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,70:147:99:1763,0,2200 21 31587793 31587793 A G exonic CLDN8 nonsynonymous SNV CLDN8:NM_199328:exon1:c.T451C:p.S151P 0.42 0.72 0.27 0.45 0.28 0.23 0.2974 0.6675 0.2761 0.4505 0.2138 0.2490 0.2616 0.2306 0.38 0.66 0.24 0.53 0.25 rs686364 COSM4001995 1(bone);1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.999 0.218 P -2.66 0.000 N -2.42 0.886 D 7.45 0.000 N 0.053 0.058 -0.903 0.476 T 0.000 0.000 T . . . -0.471 0.057 0.260 0.512 0.044 0.081 0.139 N c -1.115 -0.806 1.000 0.747 0.487 0.133 0 3.96 0.449 6.812 0.748 -0.244 0.091 1.000 0.715 0.351 0.246 11.447 0.492 . . . 0.2884 0.6777 0.2758 0.3195 0.4475 0.2122 0.2448 0.2722 0.2264 0.3647 0.6620 0.2780 0.3212 0.4286 0.2176 0.2327 0.2505 het 1132.16 83 21 31587793 . A G 1132.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.435;DP=83;Dels=0.00;FS=4.154;HRun=1;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;MQRankSum=-1.098;QD=13.64;ReadPosRankSum=0.296;VQSLOD=6.1181;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,40:83:99:1162,0,1260 21 31655212 31655212 A C exonic KRTAP24-1 synonymous SNV KRTAP24-1:NM_001085455:exon1:c.T39G:p.G13G 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs1557291 COSM4595246 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2492.34 78 21 31655212 . A C 2492.34 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5592;MQ=57.99;MQ0=0;QD=31.95;VQSLOD=7.4787;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2525,193,0 21 31709691 31709691 G A exonic KRTAP27-1 nonsynonymous SNV KRTAP27-1:NM_001077711:exon1:c.C296T:p.A99V 0.32 0.18 0.35 0.26 0.45 0.42 0.4062 0.2113 0.2467 0.2213 0.4126 0.4789 0.4659 0.4371 0.4 0.22 0.49 0.24 0.34 rs2244485 COSM3758829 1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.094 0.313 T 0.699 0.399 P 0.15 0.325 B 0.026 0.016 N 1 0.090 P 1.79 0.469 L 3.98 0.033 T -1.67 0.399 N 0.023 0.006 -0.935 0.433 T 0.000 0.000 T . . . 0.812 0.171 9.541 0.282 0.014 0.021 0.061 N c -0.711 -0.838 0.914 0.264 0.487 0.133 0 0.262 0.148 0.285 0.185 0.006 0.137 0.000 0.063 0.015 0.124 4.478 0.111 . ENSG00000156284.4 Skin_Sun_Exposed_Lower_leg 0.4004 0.2046 0.2501 0.4592 0.2254 0.4110 0.4799 0.4316 0.4395 0.3773 0.2187 0.2840 0.4267 0.2398 0.4044 0.4788 0.4318 het 2976.48 214 21 31709691 . G A 2976.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.699;DP=214;DS;Dels=0.00;FS=5.822;HRun=0;HaplotypeScore=5.7586;MQ=59.09;MQ0=0;MQRankSum=1.690;QD=13.91;ReadPosRankSum=1.866;VQSLOD=3.9337;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:98,116:214:99:3006,0,2489 21 31744127 31744127 A T exonic KRTAP13-2 stopgain KRTAP13-2:NM_181621:exon1:c.T405A:p.C135X 0.32 0.17 0.35 0.27 0.45 0.42 0.4041 0.2043 0.2452 0.2235 0.4125 0.4787 0.4625 0.4279 0.39 0.22 0.49 0.24 0.43 rs877346 COSM3758831 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.431 0.047 U 0.965 0.259 P . . . . . . . . . . . . . . . . . . . . 7.281 0.948 34 0.972 0.322 0.086 0.143 N c 0.046 -0.297 0.000 0.053 0.554 0.246 0 2.31 0.277 0.145 0.159 0.103 0.200 0.000 0.063 0.202 0.218 5.629 0.167 . . . 0.3989 0.1970 0.2490 0.4603 0.2279 0.4107 0.4798 0.4310 0.4317 0.3749 0.2099 0.2847 0.4367 0.2429 0.4043 0.4786 0.4316 het 1918.57 129 21 31744127 . A T 1918.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.142;DP=129;Dels=0.00;FS=1.412;HRun=0;HaplotypeScore=3.2363;MQ=59.09;MQ0=0;MQRankSum=0.590;QD=14.87;ReadPosRankSum=1.912;VQSLOD=5.0984;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,68:129:99:1949,0,1578 21 31744310 31744310 G C exonic KRTAP13-2 nonsynonymous SNV KRTAP13-2:NM_181621:exon1:c.C222G:p.S74R 0.15 0.29 0.099 0.061 0.12 0.12 0.1123 0.2774 0.0767 0.0582 0.0627 0.1066 0.0949 0.1049 0.16 0.28 0.11 0.23 0.082 rs3804010 . . . . . . . . . . . . . 1.0 0.010 T 0.019 0.167 B 0.023 0.188 B 0.007 0.317 N 1 0.090 P 0.355 0.120 N 4.01 0.032 T -2.39 0.526 N 0.062 0.047 -0.967 0.378 T 0.000 0.000 T . . . -1.354 0.021 0.004 0.736 0.101 0.009 0.036 N c -1.469 -1.582 0.996 0.343 0.487 0.133 0 -9.5 0.005 -3.644 0.005 -0.516 0.050 0.000 0.063 0.799 0.336 4.929 0.132 . . . 0.1087 0.2793 0.0829 0.1963 0.0625 0.0607 0.1035 0.1108 0.1030 0.1399 0.2620 0.1050 0.2086 0.0537 0.0633 0.0989 0.1039 het 1690.63 122 21 31744310 . G C 1690.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.554;DP=122;Dels=0.00;FS=0.700;HRun=1;HaplotypeScore=5.4034;MQ=57.82;MQ0=0;MQRankSum=-0.883;QD=13.86;ReadPosRankSum=0.174;VQSLOD=3.7864;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,65:122:99:1721,0,1559 21 31802768 31802768 G A exonic KRTAP13-4 nonsynonymous SNV KRTAP13-4:NM_181600:exon1:c.G175A:p.A59T 0.55 0.65 0.64 0.28 0.57 0.62 0.5697 0.6307 0.6371 0.3186 0.5176 0.5732 0.5914 0.6206 0.6 0.64 0.59 0.58 0.58 rs2226548 COSM3758833 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.477 0.050 N 1 0.090 P -2.095 0.002 N 4.27 0.025 T 2.41 0.003 N 0.016 0.005 -0.909 0.470 T 0.000 0.000 T . . . -1.068 0.029 0.012 0.595 0.061 0.001 0.004 N c -1.922 -1.815 0.543 0.213 0.560 0.301 0 -2.5 0.060 -1.383 0.026 -0.184 0.104 0.000 0.063 0.016 0.126 0.640 0.007 . . . 0.5702 0.6294 0.6314 0.6081 0.3218 0.5151 0.5760 0.5862 0.6172 0.5667 0.6272 0.5823 0.6523 0.2884 0.5152 0.5716 0.5595 het 1856.03 141 21 31802768 . G A 1856.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.374;DP=141;Dels=0.00;FS=3.090;HRun=0;HaplotypeScore=7.8757;MQ=59.82;MQ0=0;MQRankSum=1.076;QD=13.16;ReadPosRankSum=0.374;VQSLOD=4.2611;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:66,75:141:99:1886,0,1762 21 31812772 31812772 C A exonic KRTAP15-1 nonsynonymous SNV KRTAP15-1:NM_181623:exon1:c.C127A:p.L43M 0.55 0.65 0.64 0.28 0.57 0.62 0.5698 0.6396 0.6373 0.3185 0.5169 0.5720 0.5914 0.6211 0.61 0.64 0.59 0.6 0.61 rs2832873 COSM3758834 1(bone);1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) . . . . . . . . . . . 0.015 0.524 D 0.956 0.527 P 0.622 0.496 P 0.136 0.028 N 1.000 0.182 P 2.6 0.763 M 3.86 0.037 T -1.5 0.366 N 0.059 0.043 -0.936 0.433 T 0.000 0.000 T . . . 4.361 0.584 24.1 0.994 0.640 0.479 0.278 N c 0.068 -0.052 0.000 0.029 0.487 0.133 0 0.826 0.179 0.188 0.167 0.061 0.167 0.890 0.310 0.155 0.206 3.575 0.074 . . . 0.5703 0.6381 0.6318 0.6082 0.3219 0.5148 0.5749 0.5853 0.6175 0.5681 0.6326 0.5837 0.6523 0.2884 0.5152 0.5713 0.5591 het 1170.41 97 21 31812772 . C A 1170.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.966;DP=97;Dels=0.00;FS=5.132;HRun=2;HaplotypeScore=3.2580;MQ=60.00;MQ0=0;MQRankSum=1.042;QD=12.07;ReadPosRankSum=-0.033;VQSLOD=5.2159;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,43:97:99:1200,0,1567 21 31913982 31913982 G - exonic;splicing KRTAP19-6;KRTAP19-6 NM_001303120:exon1:c.170+1C>-;NM_001303120:exon2:c.171-1C>- frameshift deletion KRTAP19-6:NM_181612:exon1:c.171delC:p.Y58delinsTKKLADSHTLTPRSCPYASARRTLFSM 0.79 0.93 0.74 0.7 0.71 0.79 0.7273 0.8798 0.7218 0.7063 0.6956 0.6987 0.7506 0.7734 . . . 0.79 0.67 rs5843453 COSM1413647 6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7250 0.8838 0.7154 0.7399 0.7074 0.6911 0.7006 0.7363 0.7729 0.7499 0.8715 0.6950 0.7833 0.7029 0.6957 0.7017 0.7122 het 3418.68 247 21 31913981 . AG A 3418.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=12.243;DP=247;DS;FS=3.341;HRun=1;HaplotypeScore=862.6989;MQ=58.76;MQ0=0;MQRankSum=-0.822;QD=13.84;ReadPosRankSum=0.407;set=variant2 GT:AD:DP:GQ:PL 0/1:146,101:247:99:3419,0,6064 21 31973516 31973516 T A exonic KRTAP22-1 nonsynonymous SNV KRTAP22-1:NM_181620:exon1:c.T77A:p.L26H 0.84 0.87 0.95 0.6 0.88 0.92 0.8862 0.8644 0.9457 0.6281 0.8592 0.9067 0.8932 0.9213 0.89 0.86 0.9 0.87 0.93 rs198915 COSM149218 1(stomach) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.537 0.116 N 1 0.090 P . . . 2.87 0.104 T 8.0 0.000 N 0.072 0.065 -1.065 0.105 T 0.000 0.000 T . . . -0.455 0.058 0.284 0.437 0.033 0.001 0.007 N c -1.325 -1.389 0.000 0.012 0.487 0.133 0 -0.461 0.115 -0.548 0.061 0.043 0.157 0.000 0.063 0.002 0.062 5.758 0.173 . . . 0.8874 0.8628 0.9502 0.9453 0.6347 0.8589 0.9019 0.8993 0.9199 0.8665 0.8698 0.9427 0.9570 0.6105 0.8602 0.8871 0.8727 hom 7851.67 250 21 31973516 . T A 7851.67 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5702;MQ=58.07;MQ0=0;QD=31.41;VQSLOD=8.0218;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:7823,632,0 21 31973525 31973525 A G exonic KRTAP22-1 nonsynonymous SNV KRTAP22-1:NM_181620:exon1:c.A86G:p.Y29C 0.019 0.003 0.037 . 0.053 0.013 0.0352 0.0102 0.0204 0 0.0647 0.0481 0.0396 0.0154 0.037 0.011 0.051 0.033 0.066 rs724849 . . . . . . . . . . . . . . . . 0.265 0.299 B 0.049 0.237 B 0.001 0.393 N 1 0.090 N . . . 0.65 0.527 T -9.0 0.981 D 0.196 0.259 -1.074 0.085 T 0.014 0.056 T . . . -0.047 0.089 2.160 0.960 0.277 0.086 0.144 N c -0.775 -0.874 0.000 0.012 0.487 0.133 0 0.45 0.158 0.090 0.147 0.224 0.256 0.002 0.151 0.001 0.043 3.678 0.078 . . . 0.0354 0.0086 0.0211 0.0330 0 0.0581 0.0498 0.0382 0.0154 0.0411 0.0093 0.0298 0.0232 0 0.0607 0.0596 0.0540 het 3024.71 248 21 31973525 . A G 3024.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.093;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3567;MQ=58.40;MQ0=0;MQRankSum=1.570;QD=12.20;ReadPosRankSum=-0.472;VQSLOD=4.9320;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,114:248:99:3055,0,3362 21 32253629 32253629 C T exonic KRTAP11-1 nonsynonymous SNV KRTAP11-1:NM_175858:exon1:c.G215A:p.R72Q 0.14 0.049 0.15 0.053 0.2 0.31 0.1889 0.0731 0.1365 0.0335 0.1682 0.2098 0.1711 0.3046 0.17 0.08 0.22 0.076 0.2 rs71321355 COSM4415175 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.041 0.240 N 1 0.090 P . . . 4.15 0.028 T 0.88 0.017 N 0.035 0.015 -0.934 0.436 T 0.000 0.000 T . . . 1.445 0.236 13.02 0.214 0.008 0.020 0.059 N c -1.111 -0.899 0.000 0.029 0.487 0.133 0 2.11 0.262 0.762 0.260 0.154 0.240 0.983 0.354 0.940 0.414 6.532 0.214 . . . 0.1877 0.0697 0.1394 0.1790 0.0347 0.1738 0.2138 0.1845 0.3035 0.1509 0.0721 0.1480 0.1755 0.0321 0.1824 0.1993 0.1899 hom 3839.65 118 21 32253629 . C T 3839.65 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=59.06;MQ0=0;QD=32.54;VQSLOD=9.3320;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3839,301,0 21 32493031 32493031 A G exonic TIAM1 synonymous SNV TIAM1:NM_003253:exon29:c.T4431C:p.G1477G 0.54 0.53 0.6 0.76 0.47 0.33 0.5033 0.5343 0.6439 0.7659 0.5559 0.4776 0.4813 0.3314 0.48 0.52 0.46 0.48 0.4 rs762194 COSM3758837;COSM3758838 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5086 0.5291 0.6398 0.4210 0.7713 0.5529 0.4738 0.4974 0.3327 0.5118 0.5155 0.6158 0.4636 0.7655 0.5590 0.4688 0.4724 hom 3541.77 116 21 32493031 . A G 3541.77 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.806;DP=116;Dels=0.00;FS=3.924;HRun=0;HaplotypeScore=0.0000;MQ=59.26;MQ0=0;MQRankSum=1.613;QD=30.53;ReadPosRankSum=1.463;VQSLOD=4.1947;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,115:116:99:3508,252,0 21 33044408 33044408 A G exonic SCAF4 synonymous SNV SCAF4:NM_001145444:exon19:c.T2703C:p.V901V,SCAF4:NM_001145445:exon20:c.T2682C:p.V894V,SCAF4:NM_020706:exon20:c.T2748C:p.V916V 0.017 0.0008 0.019 0.003 0.06 0.0061 0.0371 0.0092 0.0165 0.0007 0.0894 0.0512 0.05 0.0099 0.033 0.0093 0.046 . 0.041 rs73201506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0374 0.0082 0.0186 0.0255 0.0008 0.0917 0.0503 0.0429 0.0096 0.0406 0.0088 0.0095 0.0199 0.0037 0.0893 0.0537 0.0429 het 517.16 37 21 33044408 . A G 517.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.874;DP=37;Dels=0.00;FS=1.463;HRun=0;HaplotypeScore=1.9825;MQ=58.74;MQ0=0;MQRankSum=0.593;QD=13.98;ReadPosRankSum=-0.106;VQSLOD=6.1891;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,18:37:99:547,0,532 21 33368188 33368188 T C exonic HUNK synonymous SNV HUNK:NM_014586:exon10:c.T1413C:p.L471L 0.7 0.66 0.7 0.67 0.76 0.74 0.7357 0.6780 0.6074 0.6781 0.8042 0.7640 0.6560 0.7548 0.74 0.68 0.77 0.66 0.79 rs2070371 COSM4418352 1(bone);3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7298 0.6764 0.6149 0.6318 0.6724 0.7965 0.7714 0.7064 0.7507 0.7497 0.6863 0.6615 0.6656 0.7016 0.7942 0.7862 0.7777 hom 1967.98 59 21 33368188 . T C 1967.98 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;QD=33.36;VQSLOD=9.8519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:2001,153,0 21 33370900 33370900 T C exonic HUNK synonymous SNV HUNK:NM_014586:exon11:c.T1548C:p.S516S 0.63 0.57 0.64 0.65 0.62 0.73 0.6309 0.5787 0.5613 0.6601 0.6594 0.6201 0.5776 0.7336 0.62 0.58 0.64 0.55 0.67 rs9305483 COSM4418875 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6296 0.5810 0.5687 0.5867 0.6528 0.6486 0.6242 0.6212 0.7269 0.6248 0.5874 0.5873 0.62 0.6663 0.6471 0.6364 0.6636 het 2455.37 191 21 33370900 . T C 2455.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.221;DP=191;Dels=0.00;FS=1.175;HRun=1;HaplotypeScore=3.6426;MQ=58.94;MQ0=0;MQRankSum=0.153;QD=12.86;ReadPosRankSum=0.250;VQSLOD=6.3822;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:97,94:191:99:2485,0,2602 21 33887131 33887131 G A exonic EVA1C synonymous SNV EVA1C:NM_001320744:exon6:c.G636A:p.P212P,EVA1C:NM_001286556:exon8:c.G948A:p.P316P,EVA1C:NM_001320745:exon8:c.G672A:p.P224P,EVA1C:NM_058187:exon8:c.G957A:p.P319P 0.49 0.6 0.51 0.63 0.29 0.39 0.3894 0.5803 0.6015 0.6849 0.3275 0.2861 0.3898 0.3990 0.37 0.56 0.27 0.53 0.28 rs1129157 COSM4134889 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3895 0.5786 0.5738 0.3928 0.6784 0.3238 0.2774 0.3617 0.3657 0.3987 0.5684 0.5012 0.3667 0.6814 0.3216 0.2882 0.3135 het 1480.70 99 21 33887131 . G A 1480.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.728;DP=99;Dels=0.00;FS=6.625;HRun=0;HaplotypeScore=4.8486;MQ=59.20;MQ0=0;MQRankSum=-0.257;QD=14.96;ReadPosRankSum=0.399;VQSLOD=4.8436;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,53:99:99:1511,0,1145 21 33951068 33951068 T C exonic C21orf59-TCP10L;TCP10L nonsynonymous SNV TCP10L:NM_144659:exon4:c.A434G:p.H145R,C21orf59-TCP10L:NM_001350338:exon7:c.A956G:p.H319R 0.22 0.2 0.21 0.26 0.19 0.23 0.2039 0.2057 0.1971 0.2916 0.2233 0.1887 0.2192 0.2149 0.19 0.2 0.18 0.27 0.18 rs9622 COSM4415537 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.245 0.008 N 1.94 0.227 T 0.36 0.037 N 0.051 0.032 -0.948 0.414 T 0.000 0.000 T . . . -2.565 0.003 0.001 0.562 0.054 0.000 0.002 N c -1.837 -1.842 0.925 0.267 0.549 0.223 0 0.459 0.158 -1.069 0.035 -0.631 0.042 0.009 0.180 0.008 0.104 . . . ENSG00000242220.2|ENSG00000242220.2|ENSG00000242220.2 Breast_Mammary_Tissue|Nerve_Tibial|Thyroid 0.2067 0.2045 0.1985 0.3219 0.2959 0.2193 0.1803 0.2175 0.2145 0.2010 0.2012 0.1802 0.3233 0.2899 0.2305 0.1836 0.1939 hom 7033.69 229 21 33951068 . T C 7033.69 Mask AC=2;AF=1.00;AN=2;DP=229;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6279;MQ=59.60;MQ0=0;QD=30.71;VQSLOD=8.6149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:7032,590,0 21 33956579 33956579 T C exonic TCP10L synonymous SNV TCP10L:NM_144659:exon2:c.A36G:p.K12K 0.43 0.55 0.37 0.35 0.38 0.47 0.3995 0.5337 0.2970 0.3633 0.3731 0.3857 0.4281 0.4701 0.42 0.53 0.37 0.5 0.38 rs2017816 COSM1566092 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3924 0.5360 0.3078 0.4966 0.3632 0.3726 0.3762 0.4053 0.4671 0.4259 0.5296 0.3162 0.4866 0.3580 0.3879 0.3878 0.4102 hom 3280.53 101 21 33956579 . T C 3280.53 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1792;MQ=58.84;MQ0=0;QD=32.48;VQSLOD=7.7605;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3280,265,0 21 34003928 34003928 - AGTATT exonic SYNJ1 nonframeshift insertion SYNJ1:NM_001160306:exon28:c.3957_3958insAATACT:p.V1319_L1320insNT,SYNJ1:NM_003895:exon32:c.4215_4216insAATACT:p.V1405_L1406insNT 0.57 0.73 0.48 0.47 0.53 0.58 0.5120 0.6842 0.3964 0.4842 0.3864 0.5037 0.5178 0.5821 0.56 0.67 0.51 . . rs71640263 COSM1413791;COSM1413790 1(liver);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5078 0.6876 0.4176 0.5856 0.4973 0.3980 0.5054 0.5168 0.5845 0.5401 0.6778 0.4145 0.5298 0.5013 0.4119 0.5042 0.5041 het 2666.44 59 21 34003928 . A AAGTATT 2666.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.440;DP=59;FS=0.000;HRun=0;HaplotypeScore=290.8335;MQ=49.37;MQ0=0;MQRankSum=-4.302;QD=45.19;ReadPosRankSum=-1.955;set=variant2 GT:AD:DP:GQ:PL 0/1:41,15:59:99:2705,0,1943 21 34059352 34059352 T C exonic SYNJ1 nonsynonymous SNV SYNJ1:NM_001160302:exon8:c.A884G:p.K295R,SYNJ1:NM_001160306:exon8:c.A884G:p.K295R,SYNJ1:NM_003895:exon8:c.A1001G:p.K334R,SYNJ1:NM_203446:exon8:c.A1001G:p.K334R 0.3 0.3 0.29 0.33 0.29 0.31 0.2934 0.3017 0.2732 0.3340 0.2257 0.2908 0.2779 0.3194 0.3 0.3 0.3 0.34 0.19 rs2254562 COSM3758851;COSM3758850 2(large_intestine) . . . . . . . . . . . 0.04 0.430 D 0.425 0.629 B 0.221 0.585 B 0.000 0.629 D 0.000 0.588 P 1.125 0.290 L 0.29 0.589 T -1.64 0.401 N 0.339 0.400 -1.097 0.045 T 0.000 0.000 T . . . 5.743 0.784 26.9 0.999 0.962 0.982 0.808 D c 0.453 0.550 1.000 0.747 0.651 0.465 0 5.85 0.936 7.679 0.832 1.011 0.635 1.000 0.715 1.000 0.888 16.239 0.821 SAC domain . . 0.2770 0.2894 0.2364 0.3946 0.3049 0.2229 0.2747 0.2953 0.3063 0.2866 0.3119 0.2566 0.3709 0.3476 0.2355 0.2788 0.2633 het 1553.53 119 21 34059352 . T C 1553.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.260;DP=119;Dels=0.00;FS=2.383;HRun=0;HaplotypeScore=1.9984;MQ=59.18;MQ0=0;MQRankSum=-0.510;QD=13.05;ReadPosRankSum=-0.633;VQSLOD=6.5452;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,65:119:99:1584,0,1333 21 34166190 34166190 A T exonic C21orf62 nonsynonymous SNV C21orf62:NM_001162496:exon2:c.T543A:p.F181L,C21orf62:NM_019596:exon3:c.T543A:p.F181L,C21orf62:NM_001162495:exon4:c.T543A:p.F181L 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs74617086 COSM4591862 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3739.05 116 21 34166190 . A T 3739.05 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=32.23;VQSLOD=9.1224;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3739,301,0 21 34166343 34166343 C T exonic C21orf62 synonymous SNV C21orf62:NM_001162496:exon2:c.G390A:p.E130E,C21orf62:NM_019596:exon3:c.G390A:p.E130E,C21orf62:NM_001162495:exon4:c.G390A:p.E130E 0.73 0.53 0.81 0.92 0.76 0.71 0.7602 0.5721 0.8776 0.9012 0.8424 0.7546 0.7578 0.7058 0.71 0.6 0.77 0.69 0.71 rs2231390 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7704 0.5710 0.8567 0.8099 0.9033 0.8333 0.7519 0.7762 0.7087 0.7234 0.5775 0.8162 0.8212 0.9097 0.8310 0.7546 0.7438 hom 3411.46 105 21 34166343 . C T 3411.46 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8633;MQ=58.66;MQ0=0;QD=32.49;VQSLOD=9.7638;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:105:99:3381,265,0 21 34399401 34399401 A G exonic OLIG2 synonymous SNV OLIG2:NM_005806:exon2:c.A231G:p.S77S 0.44 0.49 0.52 0.18 0.57 0.43 0.5212 0.5195 0.4998 0.1795 0.5546 0.5756 0.5091 0.4824 0.56 0.52 0.58 0.37 0.45 rs762178 COSM3766647 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5114 0.5098 0.4873 0.6278 0.1692 0.5318 0.5687 0.5334 0.4716 0.5263 0.5249 0.4928 0.6324 0.1719 0.5195 0.5682 0.5021 hom 945.22 30 21 34399401 . A G 945.22 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=31.51;VQSLOD=9.6315;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:87.23:978,87,0 21 34860750 34860754 AATTA - exonic DNAJC28 frameshift deletion DNAJC28:NM_001040192:exon2:c.947_951del:p.L316Cfs*10,DNAJC28:NM_001320746:exon2:c.947_951del:p.L316Cfs*10,DNAJC28:NM_017833:exon2:c.947_951del:p.L316Cfs*10 0.15 0.015 0.23 0.17 0.27 0.15 0.2092 0.0478 0.2056 0.1434 0.2780 0.2407 0.2217 0.1912 0.16 0.054 0.22 . . rs3834674 COSM5713375 3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2122 0.0437 0.2115 0.1918 0.1418 0.2832 0.2392 0.2326 0.1893 0.1802 0.0482 0.2141 0.1921 0.1429 0.2776 0.2335 0.2263 het 1744.41 93 21 34860749 . CAATTA C 1744.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.826;DP=93;FS=3.353;HRun=0;HaplotypeScore=480.0224;MQ=47.43;MQ0=0;MQRankSum=-5.308;QD=18.36;ReadPosRankSum=-0.075;set=variant2 GT:AD:DP:GQ:PL 0/1:59,36:93:99:1783,0,2824 21 34883618 34883618 T C exonic GART nonsynonymous SNV GART:NM_000819:exon17:c.A2255G:p.D752G,GART:NM_001136005:exon17:c.A2255G:p.D752G,GART:NM_001136006:exon17:c.A2255G:p.D752G 0.15 0.017 0.23 0.16 0.27 0.15 0.2093 0.0507 0.2071 0.1440 0.2790 0.2417 0.2203 0.1857 0.17 0.06 0.23 0.11 0.19 rs8971 COSM4164830 1(kidney) . . . . . . . . . . . 0.313 0.139 T 0.04 0.198 B 0.102 0.293 B 0.001 0.405 N 0.001 0.503 P 1.405 0.356 L 2.29 0.171 T -2.34 0.518 N 0.154 0.382 -0.974 0.364 T 0.000 0.000 T . . . 2.443 0.355 19.10 0.973 0.326 0.971 0.722 D c -0.226 -0.133 1.000 0.747 0.707 0.730 0 4.42 0.526 5.747 0.681 1.061 0.807 1.000 0.715 0.514 0.273 12.680 0.561 AIR synthase-related protein\x2c C-terminal domain ENSG00000243627.4|ENSG00000223799.1 Heart_Atrial_Appendage|Thyroid 0.2131 0.0465 0.2119 0.1913 0.1421 0.2841 0.2408 0.2336 0.1887 0.1843 0.0501 0.2172 0.1954 0.1431 0.2791 0.2395 0.2342 het 3004.75 239 21 34883618 . T C 3004.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.796;DP=239;DS;Dels=0.00;FS=4.436;HRun=3;HaplotypeScore=10.5023;MQ=59.48;MQ0=0;MQRankSum=1.655;QD=12.57;ReadPosRankSum=1.693;VQSLOD=3.6737;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,106:239:99:3035,0,3582 21 34897113 34897113 C T exonic GART nonsynonymous SNV GART:NM_000819:exon11:c.G1261A:p.V421I,GART:NM_001136005:exon11:c.G1261A:p.V421I,GART:NM_001136006:exon11:c.G1261A:p.V421I,GART:NM_175085:exon11:c.G1261A:p.V421I 0.87 0.92 0.87 0.98 0.78 0.81 0.8080 0.9031 0.8983 0.9923 0.8392 0.7587 0.7859 0.7763 0.81 0.9 0.76 0.83 0.78 rs8788 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.198 P -3.765 0.000 N 2.14 0.194 T 0.92 0.016 N 0.051 0.032 -0.949 0.412 T 0.000 0.000 T . . . 1.238 0.214 11.95 0.138 0.003 0.295 0.236 N c -1.025 -0.646 1.000 0.500 0.719 0.830 0 6.03 0.978 5.767 0.683 0.154 0.240 1.000 0.715 0.926 0.400 12.349 0.543 Phosphoribosylglycinamide synthetase\x2c C-domain|Rudiment single hybrid motif ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12|ENSG00000142188.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Whole_Blood 0.8113 0.9040 0.8967 0.7083 0.9930 0.8307 0.7614 0.7917 0.7742 0.8256 0.8983 0.8914 0.7219 0.9932 0.8110 0.7710 0.7648 het 2025.78 148 21 34897113 . C T 2025.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.156;DP=148;Dels=0.00;FS=2.117;HRun=0;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;MQRankSum=1.353;QD=13.69;ReadPosRankSum=-1.949;VQSLOD=5.7185;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,79:148:99:2056,0,1605 21 34924243 34924243 T C exonic SON synonymous SNV SON:NM_001291411:exon3:c.T2706C:p.D902D,SON:NM_032195:exon3:c.T2706C:p.D902D,SON:NM_138927:exon3:c.T2706C:p.D902D 0.18 0.032 0.24 0.17 0.31 0.22 0.2488 0.0672 0.2333 0.1456 0.3163 0.2897 0.2627 0.2355 0.21 0.076 0.28 0.12 0.25 rs16990760 COSM1179794;COSM5022083;COSM1179795 1(breast);1(bone);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2528 0.0632 0.2382 0.2481 0.1433 0.3225 0.2899 0.2758 0.2366 0.2175 0.0698 0.2512 0.2417 0.1451 0.3153 0.2818 0.2822 het 1862.82 112 21 34924243 . T C 1862.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.953;DP=112;Dels=0.00;FS=0.798;HRun=0;HaplotypeScore=2.9872;MQ=59.27;MQ0=0;MQRankSum=2.348;QD=16.63;ReadPosRankSum=-0.417;VQSLOD=5.0876;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,60:112:99:1893,0,1498 21 34925142 34925142 C T exonic SON nonsynonymous SNV SON:NM_001291411:exon3:c.C3605T:p.S1202L,SON:NM_032195:exon3:c.C3605T:p.S1202L,SON:NM_138927:exon3:c.C3605T:p.S1202L 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 0.9998 1 1 1. 1. 1. 1. 1. rs13433428 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.339 N 1.000 0.588 P -1.245 0.008 N 3.27 0.086 T 1.7 0.010 N 0.051 0.327 -0.964 0.385 T 0.000 0.000 T . . . 1.320 0.223 12.38 0.185 0.006 0.191 0.203 N c -0.784 -0.521 1.000 0.747 0.672 0.522 0 5.12 0.693 2.734 0.468 0.154 0.240 1.000 0.715 0.988 0.529 9.449 0.377 . . . 0.9998 0.9999 1.0000 1 1 1 0.9997 1 1 0.9998 0.9999 1 1 1 1 0.9997 1 hom 7917.51 250 21 34925142 . C T 7917.51 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7445;MQ=59.55;MQ0=0;QD=31.67;VQSLOD=8.8039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7917,629,0 21 34925689 34925689 G A exonic SON synonymous SNV SON:NM_001291411:exon3:c.G4152A:p.L1384L,SON:NM_032195:exon3:c.G4152A:p.L1384L,SON:NM_138927:exon3:c.G4152A:p.L1384L 0.18 0.019 0.24 0.16 0.31 0.22 0.2447 0.0548 0.2302 0.1451 0.3164 0.2849 0.2605 0.2344 0.2 0.064 0.28 0.12 0.26 rs61739710 COSM5022088;COSM5022089;COSM5022087 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2489 0.0511 0.2353 0.2373 0.1430 0.3218 0.2856 0.2718 0.2355 0.2120 0.0572 0.2458 0.2219 0.1454 0.3149 0.2793 0.2752 het 1349.48 124 21 34925689 . G A 1349.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.060;DP=124;Dels=0.00;FS=2.363;HRun=0;HaplotypeScore=2.6812;MQ=59.25;MQ0=0;MQRankSum=0.297;QD=10.88;ReadPosRankSum=-0.302;VQSLOD=6.3129;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,55:124:99:1379,0,1926 21 34926260 34926260 C T exonic SON nonsynonymous SNV SON:NM_001291411:exon3:c.C4723T:p.R1575C,SON:NM_032195:exon3:c.C4723T:p.R1575C,SON:NM_138927:exon3:c.C4723T:p.R1575C 0.72 0.78 0.68 0.75 0.67 0.66 0.6779 0.7699 0.6625 0.7460 0.7057 0.6631 0.6531 0.6452 0.7 0.77 0.67 0.65 0.61 rs13047599 . . . . . . . . . . . . . 0.663 0.046 T 0.0 0.067 B 0.0 0.013 B 0.199 0.166 N 1 0.189 P -1.735 0.003 N 2.99 0.111 T 2.01 0.004 N 0.053 0.443 -1.077 0.079 T 0.000 0.000 T . . . -0.037 0.090 2.246 0.040 0.000 0.031 0.080 N c -1.300 -1.170 1.000 0.747 0.672 0.522 0 0.837 0.180 -0.043 0.119 -0.463 0.055 0.085 0.223 0.523 0.275 4.394 0.107 . ENSG00000142188.12 Skin_Sun_Exposed_Lower_leg 0.6779 0.7707 0.6694 0.5908 0.7420 0.7024 0.6704 0.6698 0.6439 0.7055 0.7693 0.6659 0.5828 0.7417 0.6914 0.6754 0.6605 het 1345.18 129 21 34926260 . C T 1345.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.407;DP=129;Dels=0.00;FS=3.256;HRun=0;HaplotypeScore=3.3109;MQ=59.28;MQ0=0;MQRankSum=-0.319;QD=10.43;ReadPosRankSum=0.558;VQSLOD=6.0136;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,54:129:99:1375,0,1924 21 34945721 34945721 T C exonic SON synonymous SNV SON:NM_001291412:exon8:c.T1077C:p.N359N,SON:NM_138927:exon9:c.T6993C:p.N2331N 0.29 0.25 0.32 0.25 0.33 0.32 0.3229 0.2531 0.3388 0.2524 0.2945 0.3377 0.3524 0.3422 0.3 0.26 0.33 0.35 0.38 rs3174808 COSM3758858 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3223 0.2521 0.3320 0.4097 0.2562 0.2977 0.3302 0.3312 0.3437 0.3019 0.2564 0.3365 0.4172 0.2599 0.3082 0.3251 0.3344 het 1276.08 90 21 34945721 . T C 1276.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.167;DP=90;Dels=0.00;FS=1.752;HRun=0;HaplotypeScore=0.0000;MQ=57.37;MQ0=1;MQRankSum=0.054;QD=14.18;ReadPosRankSum=-2.008;VQSLOD=3.3347;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,49:90:99:1306,0,1048 21 34948684 34948684 - A exonic SON frameshift insertion SON:NM_001291412:exon11:c.1320dupA:p.A441Sfs*12,SON:NM_138927:exon12:c.7236dupA:p.A2413Sfs*12 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 0.9999 1. 1. 1. . . rs397829693 COSM1413901 22(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9996 0.9990 0.9996 0.9993 0.9998 0.9997 0.9995 0.9995 1 1 1 1 1 1 1 1 hom 2789.22 67 21 34948684 . G GA 2789.22 Mask AC=2;AF=1.00;AN=2;DP=67;FS=0.000;HRun=1;HaplotypeScore=391.1160;MQ=34.14;MQ0=0;QD=36.70;set=variant2 GT:AD:DP:GQ:PL 1/1:18,58:67:99:2831,193,0 21 34948697 34948697 A - exonic SON frameshift deletion SON:NM_001291412:exon11:c.1332delA:p.R444Sfs*7,SON:NM_138927:exon12:c.7248delA:p.R2416Sfs*7 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 1.0000 1 0.9998 . . . 1. 0.56 rs34373121 COSM1684637 1(haematopoietic_and_lymphoid_tissue);1(skin);1(lung);23(upper_aerodigestive_tract);1(large_intestine);8(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9995 0.9993 0.9991 0.9992 0.9997 0.9997 0.9995 0.9991 1 1 1 1 1 1 1 1 hom 2286.51 58 21 34948696 . GA G 2286.51 Mask AC=2;AF=1.00;AN=2;DP=58;FS=0.000;HRun=1;HaplotypeScore=349.7398;MQ=33.27;MQ0=0;QD=34.64;set=variant2 GT:AD:DP:GQ:PL 1/1:10,56:58:99:2329,175,0 21 35237608 35237608 T C exonic ITSN1 synonymous SNV ITSN1:NM_001331010:exon31:c.T4029C:p.D1343D,ITSN1:NM_003024:exon32:c.T4044C:p.D1348D 0.83 0.96 0.63 0.94 0.7 0.83 0.7681 0.9239 0.6585 0.9482 0.8296 0.7083 0.7675 0.8324 0.76 0.92 0.68 0.75 0.55 rs9976801 COSM4134907;COSM4134908 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7428 0.9305 0.6371 0.6468 0.9472 0.8430 0.6838 0.7084 0.8199 0.7890 0.9162 0.6430 0.6225 0.9499 0.8431 0.6973 0.7761 hom 401.74 13 21 35237608 . T C 401.74 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=30.90;VQSLOD=8.7895;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:39.11:435,39,0 21 35260481 35260481 T C exonic ITSN1 synonymous SNV ITSN1:NM_001331010:exon39:c.T5028C:p.R1676R,ITSN1:NM_003024:exon40:c.T5043C:p.R1681R 0.58 0.46 0.49 0.71 0.58 0.66 0.5767 0.4929 0.5240 0.6721 0.5865 0.5670 0.5936 0.6504 0.55 0.51 0.57 0.48 0.58 rs2073370 COSM3758860;COSM3758859 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5773 0.4944 0.5289 0.5941 0.6710 0.5865 0.5677 0.5638 0.6437 0.5591 0.5076 0.5525 0.6141 0.6785 0.5862 0.5674 0.5878 hom 1877.96 66 21 35260481 . T C 1877.96 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=28.45;VQSLOD=8.5465;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:1911,156,0 21 35281393 35281393 A G exonic ATP5O synonymous SNV ATP5O:NM_001697:exon4:c.T321C:p.N107N 0.7 0.74 0.56 0.74 0.7 0.73 0.6899 0.7183 0.5882 0.7068 0.6553 0.6924 0.7192 0.7367 0.7 0.71 0.69 0.63 0.73 rs4591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6841 0.7216 0.5958 0.7240 0.7082 0.6491 0.6927 0.6723 0.7311 0.6868 0.7155 0.6376 0.7616 0.7089 0.6440 0.6799 0.6721 hom 2745.82 89 21 35281393 . A G 2745.82 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.22;MQ0=0;QD=30.85;VQSLOD=9.1048;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2779,214,0 21 35467645 35467645 A G exonic SLC5A3 nonsynonymous SNV SLC5A3:NM_006933:exon2:c.A148G:p.T50A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.99 rs8129891 COSM4590130 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3870.25 121 21 35467645 . A G 3870.25 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2455;MQ=59.31;MQ0=0;QD=31.99;VQSLOD=8.4954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3870,295,0 21 35469193 35469193 C A exonic SLC5A3 nonsynonymous SNV SLC5A3:NM_006933:exon2:c.C1696A:p.Q566K 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.98 rs4817617 COSM4590731 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 4679.20 148 21 35469193 . C A 4679.20 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.9015;MQ=59.11;MQ0=0;QD=31.62;VQSLOD=7.9915;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4679,367,0 21 36080290 36080290 C T exonic CLIC6 synonymous SNV CLIC6:NM_053277:exon3:c.C1533T:p.F511F,CLIC6:NM_001317009:exon4:c.C1587T:p.F529F 0.37 0.65 0.28 0.19 0.37 0.24 0.3423 0.6184 0.2130 0.1922 0.3016 0.3683 0.3304 0.2496 0.46 0.61 0.39 0.53 0.41 rs6517254 COSM3758863;COSM3758862 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3349 0.6250 0.2208 0.3938 0.1959 0.3025 0.3751 0.3365 0.2511 0.4139 0.6198 0.2452 0.4040 0.2056 0.2986 0.3591 0.3262 het 1165.17 121 21 36080290 . C T 1165.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.265;DP=121;Dels=0.00;FS=3.409;HRun=3;HaplotypeScore=3.2705;MQ=59.38;MQ0=0;MQRankSum=-0.172;QD=9.63;ReadPosRankSum=-1.115;VQSLOD=5.7040;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,48:121:99:1195,0,1981 21 37507745 37507745 C T exonic CBR3 synonymous SNV CBR3:NM_001236:exon1:c.C255T:p.N85N 0.82 0.76 0.78 0.84 0.87 0.86 0.8388 0.7673 0.7721 0.8556 0.7960 0.8604 0.8447 0.8504 0.85 0.78 0.88 0.75 0.75 rs881711 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8375 0.7677 0.7720 0.8162 0.8564 0.8070 0.8678 0.8340 0.8526 0.8255 0.7695 0.7799 0.8179 0.8591 0.8007 0.8652 0.7888 hom 1425.15 45 21 37507745 . C T 1425.15 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=31.67;VQSLOD=9.6773;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1458,117,0 21 37518706 37518706 G A exonic CBR3 nonsynonymous SNV CBR3:NM_001236:exon3:c.G730A:p.V244M 0.43 0.51 0.26 0.4 0.35 0.53 0.3742 0.4740 0.2736 0.4181 0.3196 0.3481 0.3783 0.4858 0.4 0.47 0.36 0.37 0.32 rs1056892 COSM3758864 1(breast);1(bone);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) drug response anthracyclines_and_related_substances_response_-_Toxicity/ADR RCV000211217.1 MedGen CN236469 . . . . . . 0.069 0.355 T 0.622 0.381 P 0.141 0.320 B 0.001 0.416 D 0.898 0.277 P 1.805 0.477 L 2.87 0.104 T -0.63 0.185 N 0.063 0.048 -0.904 0.476 T 0.000 0.000 T . . . 2.426 0.353 18.99 0.987 0.451 0.894 0.495 D c -0.105 -0.145 0.994 0.335 0.707 0.730 0 0.552 0.163 2.869 0.479 0.953 0.551 0.983 0.354 0.982 0.498 11.334 0.485 NAD(P)-binding domain ENSG00000159231.5|ENSG00000236830.2|ENSG00000159231.5|ENSG00000230212.2|ENSG00000159231.5|ENSG00000142197.8|ENSG00000236830.2|ENSG00000159231.5|ENSG00000159231.5|ENSG00000236830.2|ENSG00000236830.2|ENSG00000159231.5|ENSG00000142197.8|ENSG00000142197.8|ENSG00000159231.5|ENSG00000236830.2|ENSG00000236830.2|ENSG00000236830.2 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.3669 0.4725 0.2721 0.4014 0.4181 0.3192 0.3480 0.3435 0.4858 0.3836 0.4717 0.2721 0.39 0.4156 0.3212 0.3541 0.3135 hom 4494.45 142 21 37518706 . G A 4494.45 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.317;DP=142;Dels=0.00;FS=3.475;HRun=0;HaplotypeScore=5.5315;MQ=59.06;MQ0=0;MQRankSum=-1.122;QD=31.65;ReadPosRankSum=-0.390;VQSLOD=3.9822;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,141:142:99:4463,339,0 21 37617630 37617630 T G exonic DOPEY2 nonsynonymous SNV DOPEY2:NM_001320714:exon19:c.T3352G:p.C1118G,DOPEY2:NM_005128:exon19:c.T3352G:p.C1118G 0.95 0.99 0.92 1. 0.84 0.97 0.9057 0.9759 0.9377 0.9995 0.8893 0.8649 0.9139 0.9609 0.9 0.97 0.86 0.92 0.89 rs4817788 COSM4134917 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.007 0.320 N 1.000 0.090 P -1.845 0.003 N 2.35 0.162 T 3.91 0.001 N 0.041 0.021 -1.001 0.295 T 0.000 0.000 T . . . -1.911 0.009 0.002 0.252 0.012 0.042 0.096 N c -1.246 -1.063 1.000 0.480 0.563 0.310 0 2.47 0.290 2.687 0.464 0.073 0.181 0.941 0.324 0.338 0.244 4.609 0.117 . ENSG00000231106.2 Cells_Transformed_fibroblasts 0.9066 0.9791 0.9328 0.9131 0.9997 0.8929 0.8622 0.8925 0.9615 0.9133 0.9767 0.9272 0.8642 1 0.8841 0.8750 0.9010 hom 4271.67 145 21 37617630 . T G 4271.67 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1342;MQ=59.28;MQ0=0;QD=29.46;VQSLOD=6.5913;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4271,343,0 21 37664501 37664501 G A exonic DOPEY2 synonymous SNV DOPEY2:NM_001320714:exon36:c.G6615A:p.R2205R,DOPEY2:NM_005128:exon36:c.G6615A:p.R2205R 0.19 0.28 0.25 0.041 0.25 0.15 0.2452 0.2588 0.2782 0.0555 0.2450 0.2829 0.2368 0.1613 0.27 0.26 0.28 0.21 0.29 rs9978057 COSM149223 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2437 0.2540 0.2724 0.2931 0.0565 0.2518 0.2778 0.2674 0.1588 0.2592 0.2505 0.3039 0.2919 0.0758 0.2421 0.2846 0.2650 hom 2913.89 91 21 37664501 . G A 2913.89 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.25;MQ0=0;QD=32.02;VQSLOD=8.7407;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2947,232,0 21 37741352 37741352 G A exonic MORC3 synonymous SNV MORC3:NM_001320445:exon14:c.G1473A:p.Q491Q,MORC3:NM_015358:exon15:c.G1686A:p.Q562Q,MORC3:NM_001320446:exon16:c.G1473A:p.Q491Q 0.062 0.012 0.075 0.03 0.09 0.13 0.0915 0.0200 0.0682 0.0351 0.1039 0.1057 0.0869 0.1175 0.074 0.018 0.1 0.054 0.049 rs61739936 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0895 0.0192 0.0693 0.0929 0.0338 0.0995 0.1039 0.0918 0.1169 0.0789 0.0227 0.0835 0.1225 0.0358 0.0931 0.1103 0.1010 het 1148.68 84 21 37741352 . G A 1148.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.390;DP=84;Dels=0.00;FS=5.601;HRun=1;HaplotypeScore=0.5784;MQ=59.45;MQ0=0;MQRankSum=0.081;QD=13.67;ReadPosRankSum=-0.018;VQSLOD=5.7134;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,39:84:99:1179,0,1350 21 38308911 38308911 G A exonic HLCS synonymous SNV HLCS:NM_000411:exon5:c.C834T:p.S278S,HLCS:NM_001242784:exon5:c.C834T:p.S278S,HLCS:NM_001242785:exon5:c.C834T:p.S278S 0.071 0.031 0.082 0.042 0.17 0.045 0.1208 0.0471 0.0603 0.0489 0.1799 0.1608 0.1220 0.0614 0.13 0.055 0.16 0.065 0.16 rs1065758 COSM4002018 1(haematopoietic_and_lymphoid_tissue) other|Likely benign not_specified|Holocarboxylase_synthetase_deficiency RCV000078724.8|RCV000330589.1 MedGen|MedGen:OMIM:Orphanet CN169374|C0268581:253270:ORPHA79242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1200 0.0452 0.0628 0.0980 0.0478 0.1776 0.1643 0.1203 0.0649 0.1270 0.0479 0.0778 0.0960 0.0545 0.1623 0.1732 0.1680 het 1896.30 138 21 38308911 . G A 1896.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.338;DP=138;Dels=0.00;FS=0.641;HRun=0;HaplotypeScore=3.2584;MQ=59.39;MQ0=0;MQRankSum=-0.011;QD=13.74;ReadPosRankSum=-0.735;VQSLOD=6.4429;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,73:138:99:1926,0,1807 21 38444863 38444863 C T exonic PIGP nonsynonymous SNV PIGP:NM_153681:exon1:c.G25A:p.A9T 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.98 rs2507733 COSM4591272 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 6695.28 219 21 38444863 . C T 6695.28 Mask AC=2;AF=1.00;AN=2;DP=219;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7408;MQ=59.04;MQ0=0;QD=30.57;VQSLOD=8.5858;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,218:219:99:6694,551,0 21 38444881 38444881 G A exonic PIGP nonsynonymous SNV PIGP:NM_153681:exon1:c.C7T:p.P3S 0.21 0.38 0.36 0.082 0.15 0.064 0.1813 0.3411 0.3170 0.0738 0.2260 0.1694 0.1545 0.0737 0.22 0.34 0.16 0.27 0.16 rs73200245 . . . . . . . . . . . . . 0.938 0.022 T 0.0 0.026 B 0.0 0.013 B 0.000 0.004 N 1 0.090 P 0 0.065 N 1.91 0.233 T 0.08 0.060 N 0.035 0.130 -0.941 0.425 T 0.000 0.000 T . . . 0.900 0.180 10.08 0.860 0.157 0.025 0.069 N c -1.498 -1.526 1.000 0.747 0.267 0.040 1 -4.09 0.037 -0.669 0.053 0.007 0.138 0.000 0.063 0.001 0.043 2.150 0.035 . ENSG00000182670.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000159256.8|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000182670.9 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.1862 0.3509 0.3214 0.1012 0.0717 0.2274 0.1719 0.1724 0.0727 0.2346 0.3583 0.2943 0.0762 0.0525 0.2185 0.1879 0.2061 hom 5476.62 183 21 38444881 . G A 5476.62 Mask AC=2;AF=1.00;AN=2;DP=183;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.92;MQ0=0;QD=29.93;VQSLOD=8.4719;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:5475,466,0 21 38512956 38512956 A G exonic TTC3 synonymous SNV TTC3:NM_001330681:exon11:c.A825G:p.V275V,TTC3:NM_001330682:exon11:c.A825G:p.V275V,TTC3:NM_001001894:exon20:c.A1755G:p.V585V,TTC3:NM_001320703:exon20:c.A1821G:p.V607V,TTC3:NM_001320704:exon20:c.A1755G:p.V585V,TTC3:NM_001330683:exon20:c.A1755G:p.V585V,TTC3:NM_003316:exon20:c.A1755G:p.V585V 0.59 0.64 0.63 0.6 0.46 0.61 0.5193 0.6308 0.5863 0.5882 0.5328 0.4618 0.5551 0.5911 0.51 0.63 0.45 0.63 0.34 rs1133001 COSM4002019;COSM4002020 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5196 0.6372 0.5967 0.3978 0.5826 0.5438 0.4605 0.5060 0.5855 0.5371 0.6403 0.5837 0.3841 0.5658 0.5355 0.4730 0.5675 hom 4045.60 128 21 38512956 . A G 4045.60 Mask AC=2;AF=1.00;AN=2;DP=128;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7313;MQ=58.90;MQ0=0;QD=31.61;VQSLOD=8.8035;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:128:99:4045,316,0 21 38525356 38525356 T C exonic TTC3 nonsynonymous SNV TTC3:NM_001330681:exon18:c.T1589C:p.M530T,TTC3:NM_001330682:exon18:c.T1589C:p.M530T,TTC3:NM_001001894:exon27:c.T2519C:p.M840T,TTC3:NM_001320703:exon27:c.T2585C:p.M862T,TTC3:NM_001320704:exon27:c.T2519C:p.M840T,TTC3:NM_001330683:exon27:c.T2519C:p.M840T,TTC3:NM_003316:exon27:c.T2519C:p.M840T 0.63 0.71 0.66 0.62 0.51 0.63 0.5582 0.6911 0.6059 0.6142 0.5921 0.5033 0.6106 0.6177 0.55 0.69 0.49 0.69 0.39 rs1053808 COSM3758869;COSM3758870 1(large_intestine) . . . . . . . . . . . 1.0 0.041 T 0.0 0.026 B 0.0 0.013 B 0.032 0.251 N 1.000 0.090 P -1.7 0.004 N 2.91 0.390 T 0.64 0.027 N 0.041 0.280 -0.928 0.444 T 0.000 0.000 T . . . -1.111 0.028 0.010 0.682 0.083 0.041 0.094 N c -1.506 -1.369 0.983 0.304 0.731 0.878 0 -0.107 0.129 0.016 0.132 -0.785 0.033 0.011 0.184 0.826 0.345 12.196 0.534 . ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5586 0.7009 0.6161 0.4192 0.6115 0.6019 0.5025 0.5453 0.6151 0.5849 0.7032 0.6127 0.4073 0.6026 0.5944 0.5127 0.6031 hom 2152.97 76 21 38525356 . T C 2152.97 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.45;MQ0=0;QD=28.33;VQSLOD=7.6023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2186,172,0 21 38568009 38568009 G C exonic TTC3 nonsynonymous SNV TTC3:NM_001330681:exon33:c.G4321C:p.D1441H,TTC3:NM_001330682:exon33:c.G4321C:p.D1441H,TTC3:NM_001001894:exon42:c.G5251C:p.D1751H,TTC3:NM_001330683:exon42:c.G5251C:p.D1751H,TTC3:NM_003316:exon42:c.G5251C:p.D1751H,TTC3:NM_001320703:exon43:c.G5371C:p.D1791H,TTC3:NM_001320704:exon43:c.G5305C:p.D1769H 0.74 0.9 0.73 0.85 0.51 0.64 0.6068 0.8565 0.6888 0.8409 0.6084 0.5147 0.6336 0.6389 0.61 0.84 0.49 0.77 0.46 rs1053966 COSM3758871 1(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . 0.852 0.027 T 0.0 0.026 B 0.0 0.013 B 0.299 0.039 N 1 0.090 P -1.7 0.004 N 3.13 0.080 T 1.14 0.012 N 0.03 0.383 -1.016 0.248 T 0.000 0.000 T . . . -0.041 0.090 2.213 0.640 0.072 0.001 0.006 N c -1.081 -1.088 1.000 0.441 0.707 0.730 0 2.82 0.319 -2.359 0.012 -1.787 0.007 0.000 0.063 0.000 0.016 7.643 0.273 . ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000185808.9|ENSG00000182670.9|ENSG00000228677.1|ENSG00000182670.9|ENSG00000185808.9|ENSG00000182670.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6040 0.8632 0.6922 0.4407 0.8430 0.6184 0.5108 0.5777 0.6277 0.6510 0.8574 0.6814 0.4338 0.8269 0.6147 0.5239 0.6337 hom 8848.86 250 21 38568009 . G C 8848.86 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6575;MQ=59.05;MQ0=0;QD=35.40;VQSLOD=6.5681;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8810,686,0 21 38568308 38568308 C T exonic TTC3 synonymous SNV TTC3:NM_001330681:exon33:c.C4620T:p.H1540H,TTC3:NM_001330682:exon33:c.C4620T:p.H1540H,TTC3:NM_001001894:exon42:c.C5550T:p.H1850H,TTC3:NM_001330683:exon42:c.C5550T:p.H1850H,TTC3:NM_003316:exon42:c.C5550T:p.H1850H,TTC3:NM_001320703:exon43:c.C5670T:p.H1890H,TTC3:NM_001320704:exon43:c.C5604T:p.H1868H 0.59 0.64 0.63 0.6 0.46 0.62 0.5190 0.6300 0.5859 0.5874 0.5324 0.4616 0.5542 0.5898 0.51 0.63 0.45 0.62 0.41 rs6579 COSM3758872 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5214 0.6376 0.5983 0.4005 0.5837 0.5439 0.4604 0.5071 0.5861 0.5377 0.6405 0.5847 0.39 0.5662 0.5367 0.4733 0.5685 hom 3094.98 103 21 38568308 . C T 3094.98 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.58;MQ0=0;QD=30.05;VQSLOD=8.5828;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3128,250,0 21 38997701 38997701 G A exonic KCNJ6 synonymous SNV KCNJ6:NM_002240:exon4:c.C1032T:p.D344D 0.77 0.81 0.81 0.87 0.67 0.71 0.7092 0.8019 0.7975 0.8703 0.6256 0.6801 0.6656 0.6617 0.73 0.81 0.69 0.73 0.66 rs702859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7104 0.8014 0.7994 0.6964 0.8696 0.6311 0.6797 0.6946 0.6546 0.7189 0.8051 0.7721 0.7252 0.8700 0.6196 0.6748 0.6840 het 1298.52 126 21 38997701 . G A 1298.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.038;DP=126;Dels=0.00;FS=3.283;HRun=0;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=0.629;QD=10.31;ReadPosRankSum=0.491;VQSLOD=6.5180;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,54:126:99:1329,0,2038 21 39086965 39086965 T C exonic KCNJ6 synonymous SNV KCNJ6:NM_002240:exon3:c.A495G:p.P165P 0.82 0.99 0.8 0.64 0.8 0.82 0.8067 0.9613 0.8080 0.6169 0.8542 0.7974 0.8229 0.8304 0.84 0.95 0.79 0.86 0.88 rs2070995 COSM4418471 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8039 0.9650 0.8043 0.8244 0.6167 0.8524 0.7924 0.8051 0.8288 0.8432 0.9573 0.7983 0.7914 0.6064 0.8636 0.8024 0.8227 hom 2800.48 95 21 39086965 . T C 2800.48 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.76;MQ0=0;QD=29.48;VQSLOD=8.7598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:95:99:2833,229,0 21 39671476 39671476 G A exonic KCNJ15 nonsynonymous SNV KCNJ15:NM_001276438:exon3:c.G293A:p.G98D,KCNJ15:NM_170736:exon3:c.G293A:p.G98D,KCNJ15:NM_170737:exon3:c.G293A:p.G98D,KCNJ15:NM_001276437:exon4:c.G293A:p.G98D,KCNJ15:NM_001276439:exon4:c.G293A:p.G98D,KCNJ15:NM_002243:exon4:c.G293A:p.G98D,KCNJ15:NM_001276435:exon5:c.G293A:p.G98D,KCNJ15:NM_001276436:exon5:c.G293A:p.G98D 0.29 0.036 0.46 0.25 0.5 0.33 0.4459 0.1022 0.4571 0.2929 0.4967 0.5304 0.4526 0.3726 0.4 0.12 0.55 0.22 0.52 rs2230033 COSM3758874 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.624 0.052 T 0.093 0.238 B 0.079 0.272 B 0.272 0.151 U 1 0.090 P -0.74 0.017 N -3.27 0.936 D 0.85 0.018 N 0.065 0.450 -0.943 0.422 T 0.000 0.000 T . . . -1.287 0.022 0.005 0.120 0.002 0.163 0.191 N c -0.833 -0.780 1.000 0.747 0.581 0.330 0 4.22 0.490 1.313 0.330 1.048 0.713 0.001 0.137 0.010 0.111 2.999 0.056 . ENSG00000157551.13 Whole_Blood 0.4550 0.0949 0.4497 0.4817 0.2891 0.4922 0.5437 0.4657 0.3738 0.3935 0.1124 0.4135 0.5166 0.2988 0.4937 0.5360 0.4651 het 2865.95 206 21 39671476 . G A 2865.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.706;DP=206;Dels=0.00;FS=0.521;HRun=0;HaplotypeScore=3.7971;MQ=59.45;MQ0=0;MQRankSum=-0.171;QD=13.91;ReadPosRankSum=0.394;VQSLOD=6.2633;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:93,112:206:99:2896,0,2447 21 40191431 40191431 T G exonic ETS2 synonymous SNV ETS2:NM_005239:exon8:c.T816G:p.T272T,ETS2:NM_001256295:exon9:c.T1236G:p.T412T 0.58 0.56 0.58 0.46 0.84 0.47 0.7220 0.6045 0.5491 0.4595 0.7524 0.8510 0.75 0.5195 0.77 0.62 0.85 0.51 0.89 rs457705 COSM1483938;COSM444459 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7176 0.6047 0.5614 0.8520 0.4720 0.7503 0.8514 0.7676 0.5248 0.7428 0.6169 0.5943 0.8543 0.4708 0.7596 0.8457 0.7643 het 1694.87 135 21 40191431 . T G 1694.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.986;DP=135;Dels=0.00;FS=5.315;HRun=0;HaplotypeScore=4.5988;MQ=59.66;MQ0=0;MQRankSum=1.919;QD=12.55;ReadPosRankSum=0.543;VQSLOD=4.5778;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,69:135:99:1725,0,1811 21 40191638 40191638 A G exonic ETS2 synonymous SNV ETS2:NM_005239:exon8:c.A1023G:p.P341P,ETS2:NM_001256295:exon9:c.A1443G:p.P481P 0.58 0.56 0.58 0.46 0.84 0.47 0.7228 0.6045 0.5486 0.4590 0.7553 0.8510 0.7466 0.5216 0.77 0.62 0.85 0.51 0.88 rs461155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7174 0.6023 0.5608 0.8516 0.4714 0.7502 0.8512 0.7672 0.5241 0.7422 0.6138 0.5943 0.8543 0.4721 0.7594 0.8462 0.7658 het 435.05 61 21 40191638 . A G 435.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.874;DP=61;Dels=0.00;FS=2.441;HRun=1;HaplotypeScore=1.7262;MQ=58.50;MQ0=1;MQRankSum=1.701;QD=7.13;ReadPosRankSum=-0.855;VQSLOD=5.1604;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,20:61:99:465,0,1132 21 40549466 40549466 T C exonic PSMG1 synonymous SNV PSMG1:NM_203433:exon5:c.A624G:p.P208P,PSMG1:NM_001261824:exon6:c.A672G:p.P224P,PSMG1:NM_001320795:exon6:c.A426G:p.P142P,PSMG1:NM_003720:exon6:c.A687G:p.P229P 0.22 0.29 0.22 0.045 0.32 0.18 0.2730 0.3014 0.1578 0.0359 0.2132 0.3422 0.2799 0.2044 0.33 0.3 0.35 0.23 0.35 rs14194 COSM3758875 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2673 0.2981 0.1594 0.3387 0.0358 0.2222 0.3449 0.2926 0.2054 0.2907 0.3008 0.2103 0.3609 0.0316 0.2179 0.3347 0.2607 hom 1478.51 54 21 40549466 . T C 1478.51 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=27.38;VQSLOD=8.2093;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1512,123,0 21 40571246 40571246 A G exonic BRWD1 nonsynonymous SNV BRWD1:NM_018963:exon40:c.T5096C:p.L1699P,BRWD1:NM_033656:exon40:c.T5096C:p.L1699P 0.85 0.97 0.93 0.61 0.92 0.81 0.8969 0.9688 0.9204 0.6113 0.9270 0.9316 0.9207 0.8314 0.95 0.97 0.93 0.87 0.91 rs1041439 . . . . . . . . . . . . . 0.49 0.096 T 0.0 0.026 B 0.0 0.013 B 0.541 0.115 N 1 0.090 P -1.085 0.010 N 0.63 0.531 T 0.88 0.022 N 0.013 0.014 -1.036 0.185 T 0.000 0.000 T . . . -1.470 0.018 0.003 0.043 0.000 0.007 0.029 N c -1.418 -1.355 1.000 0.416 0.707 0.730 0 1.48 0.218 -1.308 0.028 -0.235 0.093 0.000 0.063 0.000 0.016 4.679 0.120 . . . 0.8984 0.9697 0.9196 0.9658 0.6152 0.9285 0.9313 0.9188 0.8326 0.9246 0.9717 0.9141 0.9735 0.6067 0.9167 0.9337 0.9094 hom 4178.48 128 21 40571246 . A G 4178.48 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.350;DP=128;Dels=0.00;FS=4.226;HRun=1;HaplotypeScore=7.4097;MQ=58.41;MQ0=0;MQRankSum=-0.450;QD=32.64;ReadPosRankSum=-0.014;VQSLOD=3.6076;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,126:128:99:4143,287,0 21 40584598 40584598 C T exonic BRWD1 synonymous SNV BRWD1:NM_018963:exon34:c.G3894A:p.R1298R,BRWD1:NM_033656:exon34:c.G3894A:p.R1298R 0.85 0.97 0.93 0.61 0.92 0.81 0.8967 0.9685 0.9202 0.6096 0.9269 0.9315 0.9183 0.8313 0.95 0.97 0.93 0.87 0.89 rs6517529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8978 0.9693 0.9188 0.9660 0.6119 0.9283 0.9307 0.9174 0.8284 0.9245 0.9712 0.9127 0.9735 0.6040 0.9177 0.9338 0.9082 hom 1781.66 69 21 40584598 . C T 1781.66 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.280;DP=69;Dels=0.00;FS=3.554;HRun=1;HaplotypeScore=0.0000;MQ=58.36;MQ0=0;MQRankSum=1.431;QD=25.82;ReadPosRankSum=1.531;VQSLOD=3.2629;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,68:69:99:1815,107,0 21 40652142 40652142 G A exonic BRWD1 synonymous SNV BRWD1:NM_018963:exon9:c.C864T:p.Y288Y,BRWD1:NM_033656:exon9:c.C864T:p.Y288Y 0.22 0.3 0.22 0.037 0.32 0.18 0.2749 0.3049 0.1578 0.0320 0.2139 0.3452 0.2811 0.2062 0.33 0.3 0.35 0.23 0.35 rs2836972 COSM444480;COSM444479 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2682 0.3023 0.1610 0.3586 0.0337 0.2229 0.3474 0.2913 0.2045 0.2926 0.3036 0.2076 0.3841 0.0315 0.2181 0.3369 0.2613 hom 1284.85 48 21 40652142 . G A 1284.85 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=26.77;VQSLOD=7.6178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1318,99,0 21 40720494 40720494 C T exonic HMGN1 nonsynonymous SNV HMGN1:NM_004965:exon2:c.G25A:p.A9T 0.059 0.082 0.071 0.015 0.064 0.061 0.0841 0.1150 0.0650 0.0217 0.0351 0.1019 0.0925 0.0593 0.077 0.084 0.073 0.087 0.016 rs34613278 COSM4134928 1(thyroid) . . . . . . . . . . . 0.355 0.203 T 0.004 0.112 B 0.004 0.093 B . . . 0.981 0.418 D 1.685 0.434 L . . . -2.46 0.537 N 0.043 0.031 -1.134 0.016 T 0.006 0.019 T . . . 2.717 0.388 20.9 0.912 0.198 0.516 0.287 D c -0.642 -0.570 1.000 0.747 0.442 0.072 0 3.24 0.361 2.932 0.484 0.852 0.362 0.986 0.359 0.120 0.196 10.670 0.448 . . . 0.0654 0.0907 0.0489 0.1391 0.0165 0.0258 0.0785 0.0840 0.0542 0.0673 0.0870 0.0695 0.18 0.0167 0.0310 0.0683 0.0542 het 336.16 27 21 40720494 . C T 336.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.367;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=60.00;MQ0=0;MQRankSum=1.293;QD=12.45;ReadPosRankSum=-1.635;VQSLOD=5.2226;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:366,0,359 21 40800371 40800371 C T exonic LCA5L nonsynonymous SNV LCA5L:NM_152505:exon4:c.G49A:p.G17S 0.22 0.43 0.16 0.027 0.22 0.18 0.1939 0.3909 0.1068 0.0190 0.1272 0.2076 0.2122 0.1945 0.26 0.4 0.2 0.17 0.22 rs2837029 COSM3758877;COSM3758876 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.040 B 0.651 0.059 N 1 0.090 P -1.15 0.009 N 0.68 0.777 T 0.04 0.096 N 0.252 0.358 -1.074 0.086 T 0.000 0.000 T . . . 0.648 0.156 8.481 0.576 0.057 0.004 0.020 N c -1.597 -1.578 0.919 0.265 0.554 0.246 0 -3.13 0.049 -1.221 0.031 0.089 0.194 0.000 0.063 0.011 0.114 3.421 0.069 . ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000185437.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000182093.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood 0.1848 0.3848 0.1119 0.2254 0.0186 0.1299 0.2074 0.2041 0.1992 0.2361 0.3854 0.1474 0.2367 0.0196 0.1359 0.2038 0.1709 hom 2786.62 95 21 40800371 . C T 2786.62 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=29.33;VQSLOD=8.7198;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2820,214,0 21 40823902 40823902 C G exonic SH3BGR nonsynonymous SNV SH3BGR:NM_001317740:exon1:c.C69G:p.D23E,SH3BGR:NM_007341:exon1:c.C69G:p.D23E 0.17 0.25 0.14 0.027 0.21 0.17 0.1733 0.2272 0.0925 0.0193 0.1261 0.2004 0.1949 0.1848 0.21 0.23 0.19 0.065 0.16 rs11575939 COSM3758878 1(bone);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.321 0.041 N 1 0.090 P -0.55 0.024 N 1.63 0.280 T 0.04 0.065 N 0.005 0.000 -1.037 0.182 T 0.000 0.000 T . . . -0.506 0.055 0.212 0.502 0.043 0.002 0.013 N c -1.526 -1.485 1.000 0.747 0.503 0.197 0 -0.25 0.123 0.221 0.173 -0.378 0.066 0.002 0.151 0.000 0.016 2.843 0.052 . ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000185437.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Stomach|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1683 0.2228 0.0997 0.2167 0.0188 0.1293 0.2010 0.1855 0.1908 0.1823 0.2205 0.1256 0.2285 0.0191 0.1329 0.1929 0.1602 hom 3198.13 92 21 40823902 . C G 3198.13 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5449;MQ=59.75;MQ0=0;QD=34.76;VQSLOD=9.3769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3231,259,0 21 40871810 40871810 T C exonic SH3BGR;WRB-SH3BGR nonsynonymous SNV SH3BGR:NM_001001713:exon4:c.T230C:p.V77A,SH3BGR:NM_001317742:exon4:c.T230C:p.V77A,SH3BGR:NM_007341:exon4:c.T563C:p.V188A,WRB-SH3BGR:NM_001317744:exon6:c.T665C:p.V222A,WRB-SH3BGR:NM_001350300:exon6:c.T665C:p.V222A 0.55 0.43 0.61 0.69 0.53 0.55 0.5566 0.4453 0.7177 0.6865 0.5145 0.5416 0.5242 0.5247 0.51 0.45 0.53 0.58 0.57 rs9974333 COSM1179691 1(prostate);1(large_intestine) . . . . . . . . . . . 1.0 0.055 T 0.0 0.026 B 0.0 0.013 B 0.283 0.038 N 1 0.214 P -0.77 0.017 N 1.03 0.561 T 0.06 0.273 N 0.013 0.009 -0.936 0.433 T 0.000 0.000 T . . . -1.328 0.021 0.004 0.613 0.065 0.002 0.012 N c -1.577 -1.543 0.093 0.162 0.638 0.428 0 -1.76 0.075 -1.067 0.035 -0.433 0.058 0.000 0.063 0.001 0.043 0.401 0.004 Thioredoxin-like fold ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000157578.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9|ENSG00000185437.9|ENSG00000185437.9|ENSG00000157578.9|ENSG00000182093.10|ENSG00000185437.9|ENSG00000157578.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.5615 0.4426 0.7057 0.5450 0.6822 0.5140 0.5379 0.5633 0.5207 0.5169 0.4506 0.6454 0.53 0.6783 0.5135 0.5312 0.5235 het 1828.72 157 21 40871810 . T C 1828.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.620;DP=157;Dels=0.00;FS=2.014;HRun=0;HaplotypeScore=2.5395;MQ=58.35;MQ0=0;MQRankSum=3.089;QD=11.65;ReadPosRankSum=-1.162;VQSLOD=4.1403;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,82:157:99:1859,0,1947 21 40883671 40883671 - AGA exonic SH3BGR;WRB-SH3BGR nonframeshift insertion SH3BGR:NM_001317740:exon5:c.596_597insAGA:p.E201_P202insE,SH3BGR:NM_001317741:exon5:c.263_264insAGA:p.E90_P91insE,SH3BGR:NM_001001713:exon6:c.356_357insAGA:p.E121_P122insE,SH3BGR:NM_001317742:exon6:c.356_357insAGA:p.E121_P122insE,SH3BGR:NM_007341:exon6:c.689_690insAGA:p.E232_P233insE,WRB-SH3BGR:NM_001317744:exon8:c.791_792insAGA:p.E266_P267insE . . . . . . 0.5921 0.5017 0.7395 0.6862 0.5425 0.5777 0.5653 0.5754 0.55 0.52 0.57 0.011 . rs397694871 COSM4602981 15(upper_aerodigestive_tract);1(large_intestine);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5960 0.4990 0.7276 0.5725 0.6822 0.5433 0.5744 0.6071 0.5751 0.5522 0.5010 0.6722 0.5833 0.6735 0.5452 0.5633 0.5492 het 1761.37 87 21 40883671 . G GAGA 1761.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.484;DP=87;FS=4.603;HRun=0;HaplotypeScore=337.4729;MQ=57.07;MQ0=0;MQRankSum=-0.564;QD=20.25;ReadPosRankSum=0.345;set=variant2 GT:AD:DP:GQ:PL 0/1:56,30:87:99:1800,0,1977 21 41032740 41032740 T C exonic B3GALT5 nonsynonymous SNV B3GALT5:NM_001278650:exon3:c.T254C:p.M85T,B3GALT5:NM_006057:exon3:c.T254C:p.M85T,B3GALT5:NM_033170:exon3:c.T254C:p.M85T,B3GALT5:NM_033172:exon3:c.T266C:p.M89T,B3GALT5:NM_033171:exon4:c.T254C:p.M85T 0.65 0.39 0.72 0.65 0.82 0.8 0.7577 0.4350 0.7726 0.6571 0.8037 0.8040 0.7749 0.8036 0.69 0.44 0.81 0.63 0.78 rs3746887 COSM4002024;COSM4002023 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.698 0.042 T 0.001 0.067 B 0.002 0.063 B 0.013 0.013 N 1 0.090 P -1.1 0.010 N 1.08 0.394 T 0.06 0.063 N 0.013 0.009 -0.993 0.319 T 0.000 0.000 T . . . -1.949 0.009 0.001 0.448 0.034 0.055 0.112 N c -1.824 -1.817 1.000 0.747 0.537 0.215 0 -5.7 0.022 -2.786 0.008 -2.722 0.002 0.000 0.063 0.000 0.016 2.683 0.047 . . . 0.7611 0.4245 0.7653 0.7811 0.6593 0.8099 0.8032 0.7785 0.7938 0.7004 0.4465 0.7811 0.7881 0.6564 0.8149 0.8141 0.7841 het 768.20 68 21 41032740 . T C 768.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.312;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.32;MQ0=0;MQRankSum=-1.736;QD=11.30;ReadPosRankSum=-0.148;VQSLOD=6.1326;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:798,0,1018 21 41032804 41032804 G A exonic B3GALT5 synonymous SNV B3GALT5:NM_001278650:exon3:c.G318A:p.T106T,B3GALT5:NM_006057:exon3:c.G318A:p.T106T,B3GALT5:NM_033170:exon3:c.G318A:p.T106T,B3GALT5:NM_033172:exon3:c.G330A:p.T110T,B3GALT5:NM_033171:exon4:c.G318A:p.T106T 0.63 0.31 0.71 0.65 0.82 0.8 0.7511 0.3628 0.7684 0.6550 0.8042 0.8029 0.7704 0.8019 0.66 0.38 0.81 0.64 0.78 rs734413 COSM149225;COSM4002025 1(stomach);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7593 0.3548 0.7645 0.7834 0.6582 0.8117 0.8044 0.7806 0.7996 0.6777 0.3700 0.7776 0.78 0.6523 0.8145 0.8130 0.7796 het 908.63 80 21 41032804 . G A 908.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.959;DP=80;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6801;MQ=59.71;MQ0=0;MQRankSum=0.462;QD=11.36;ReadPosRankSum=0.394;VQSLOD=6.5544;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,34:80:99:939,0,1218 21 41137507 41137507 G C exonic IGSF5 nonsynonymous SNV IGSF5:NM_001080444:exon3:c.G146C:p.R49T 0.66 0.43 0.75 0.73 0.74 0.75 0.7144 0.4702 0.8008 0.6899 0.7220 0.7338 0.6993 0.7400 0.65 0.46 0.74 0.61 0.75 rs2205204 COSM4134935 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -2.11 0.002 N -0.16 0.654 T 4.8 0.000 N 0.083 0.077 -0.928 0.444 T 0.000 0.000 T . . . -0.835 0.039 0.036 0.121 0.002 0.007 0.029 N c -1.226 -1.028 0.001 0.081 0.638 0.428 0 4.05 0.462 3.227 0.507 0.067 0.174 1.000 0.715 0.001 0.043 12.911 0.574 Immunoglobulin I-set|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.7218 0.4667 0.8002 0.6878 0.6884 0.7258 0.7360 0.7155 0.7396 0.6469 0.4691 0.7971 0.7267 0.6594 0.7324 0.7145 0.7105 hom 2485.06 77 21 41137507 . G C 2485.06 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;QD=32.27;VQSLOD=9.0519;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2518,193,0 21 41142940 41142940 G A exonic IGSF5 synonymous SNV IGSF5:NM_001080444:exon4:c.G516A:p.P172P 0.1 0.012 0.14 . 0.29 0.11 0.2193 0.0530 0.1099 0.0015 0.2753 0.3070 0.2302 0.1371 0.23 0.059 0.32 0.098 0.29 rs2837200 COSM3758880 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2169 0.0502 0.1187 0.1914 0.0014 0.2759 0.3144 0.2355 0.1370 0.2123 0.0552 0.1444 0.1933 0.0012 0.2702 0.3151 0.2485 hom 2568.19 81 21 41142940 . G A 2568.19 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=58.96;MQ0=0;QD=31.71;VQSLOD=9.2047;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:81:99:2601,202,0 21 41455898 41455898 T C exonic DSCAM nonsynonymous SNV DSCAM:NM_001271534:exon24:c.A4168G:p.T1390A,DSCAM:NM_001389:exon24:c.A4168G:p.T1390A . . . . . . 9.978e-05 0 0.0003 0 0 0.0001 0.0011 0 . . . . . rs759205106 . . . . . . . . . . . . . 0.234 0.180 T 0.997 0.689 D 0.992 0.790 D 0.000 0.843 D 1.000 0.511 D 0.98 0.250 L 0.43 0.568 T -3.44 0.674 D 0.68 0.702 -0.840 0.527 T 0.201 0.558 T 0.022 0.445 T 4.260 0.571 23.9 0.998 0.871 0.993 0.934 D c 0.493 0.539 1.000 0.747 0.500 0.196 0 5.47 0.803 7.894 0.858 1.061 0.807 1.000 0.715 0.966 0.452 15.568 0.759 Fibronectin type III|Immunoglobulin-like fold . . 7.734e-05 0 0.0001 0 0 0 0.0001 0.0002 0 3.228e-05 0 0 0 0 0 6.663e-05 0 het 1019.46 102 21 41455898 . T C 1019.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.626;DP=102;Dels=0.00;FS=2.669;HRun=1;HaplotypeScore=0.9894;MQ=58.85;MQ0=0;MQRankSum=0.962;QD=9.99;ReadPosRankSum=-1.277;VQSLOD=4.4078;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,44:102:99:1049,0,1328 21 42622786 42622786 C T exonic BACE2 synonymous SNV BACE2:NM_012105:exon7:c.C1092T:p.D364D,BACE2:NM_138992:exon7:c.C1092T:p.D364D 0.42 0.076 0.54 0.69 0.38 0.56 0.4390 0.1197 0.6392 0.6992 0.4044 0.3958 0.4670 0.5514 0.3 0.13 0.39 0.3 0.44 rs1046210 COSM3758881 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4517 0.1207 0.6170 0.3965 0.7018 0.4030 0.3954 0.4511 0.5532 0.3385 0.1265 0.5835 0.4172 0.6850 0.4032 0.3914 0.3791 het 1026.20 96 21 42622786 . C T 1026.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.437;DP=96;Dels=0.00;FS=10.845;HRun=0;HaplotypeScore=1.7608;MQ=60.00;MQ0=0;MQRankSum=1.526;QD=10.69;ReadPosRankSum=-1.933;VQSLOD=3.5192;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,41:96:99:1056,0,1355 21 42717662 42717662 T C exonic FAM3B synonymous SNV FAM3B:NM_206964:exon4:c.T252C:p.G84G,FAM3B:NM_058186:exon5:c.T396C:p.G132G 0.91 0.98 0.83 0.92 0.86 0.92 0.8747 0.9649 0.8230 0.9213 0.9049 0.8525 0.8980 0.9055 0.89 0.96 0.85 0.92 0.38 rs417708 COSM5427741 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8698 0.9668 0.8255 0.8703 0.9193 0.9017 0.8461 0.8665 0.9038 0.8923 0.9618 0.8353 0.8576 0.9142 0.9116 0.8498 0.8786 hom 801.28 28 21 42717662 . T C 801.28 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.81;MQ0=0;QD=28.62;VQSLOD=8.0464;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:72.19:834,72,0 21 42812891 42812891 C T exonic MX1 synonymous SNV MX1:NM_001282920:exon5:c.C669T:p.I223I,MX1:NM_001178046:exon7:c.C669T:p.I223I,MX1:NM_002462:exon9:c.C669T:p.I223I,MX1:NM_001144925:exon11:c.C669T:p.I223I 0.35 0.33 0.44 0.11 0.57 0.36 0.4654 0.3499 0.3633 0.1005 0.5094 0.5676 0.4636 0.3700 0.5 0.35 0.58 0.32 0.53 rs467960 COSM3758882 1(breast);1(skin);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4666 0.3479 0.3819 0.4471 0.1036 0.5145 0.5833 0.4672 0.3698 0.4742 0.3528 0.4368 0.4503 0.1099 0.4991 0.5813 0.4703 hom 6391.04 187 21 42812891 . C T 6391.04 Mask AC=2;AF=1.00;AN=2;DP=187;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8598;MQ=59.16;MQ0=0;QD=33.82;VQSLOD=9.4739;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,187:187:99:6390,515,0 21 42817930 42817930 G A exonic MX1 nonsynonymous SNV MX1:NM_001282920:exon9:c.G1135A:p.V379I,MX1:NM_001178046:exon11:c.G1135A:p.V379I,MX1:NM_002462:exon13:c.G1135A:p.V379I,MX1:NM_001144925:exon15:c.G1135A:p.V379I 0.46 0.44 0.45 0.29 0.59 0.55 0.5171 0.4482 0.3758 0.2536 0.5262 0.5816 0.5055 0.5338 0.54 0.45 0.59 0.46 0.57 rs469390 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.405 N 0.632 0.307 P -1.66 0.004 N -0.39 0.692 T 0.58 0.026 N 0.064 0.049 -0.922 0.454 T 0.000 0.000 T . . . -0.027 0.091 2.331 0.763 0.110 0.180 0.199 N c -1.106 -0.873 1.000 0.747 0.672 0.522 0 2.29 0.275 1.457 0.346 -0.275 0.085 1.000 0.715 0.885 0.372 6.626 0.219 Dynamin central domain ENSG00000228318.1|ENSG00000157601.9|ENSG00000228318.1|ENSG00000157601.9|ENSG00000228318.1|ENSG00000157601.9|ENSG00000157601.9 Artery_Tibial|Artery_Tibial|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Thyroid 0.5143 0.4449 0.3935 0.4765 0.2569 0.5310 0.5958 0.4974 0.5323 0.5208 0.4513 0.4510 0.4702 0.2778 0.5160 0.5949 0.4990 hom 3602.40 121 21 42817930 . G A 3602.40 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.9874;MQ=58.58;MQ0=0;QD=29.77;VQSLOD=8.8212;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3602,274,0 21 42824733 42824733 G A exonic MX1 synonymous SNV MX1:NM_001178046:exon14:c.G1695A:p.Q565Q,MX1:NM_002462:exon16:c.G1695A:p.Q565Q,MX1:NM_001144925:exon18:c.G1695A:p.Q565Q 0.27 0.16 0.31 0.006 0.53 0.37 0.4200 0.2039 0.2332 0.0045 0.4871 0.5429 0.4260 0.3807 0.44 0.22 0.55 0.18 0.41 rs469304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4188 0.1994 0.2492 0.4685 0.0047 0.4936 0.5548 0.4192 0.3814 0.4095 0.2063 0.2926 0.4801 0.0043 0.4851 0.5568 0.4457 hom 8178.87 247 21 42824733 . G A 8178.87 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.161;DP=247;DS;Dels=0.00;FS=4.429;HRun=1;HaplotypeScore=5.6253;MQ=59.19;MQ0=0;MQRankSum=1.676;QD=33.11;ReadPosRankSum=1.494;VQSLOD=4.1533;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,246:247:99:8144,629,0 21 42845383 42845383 A G exonic TMPRSS2 synonymous SNV TMPRSS2:NM_001135099:exon9:c.T879C:p.I293I,TMPRSS2:NM_005656:exon9:c.T768C:p.I256I 0.37 0.34 0.41 0.12 0.54 0.44 0.4967 0.4119 0.4098 0.1512 0.5506 0.5625 0.5147 0.4903 0.49 0.39 0.54 0.32 0.37 rs17854725 COSM1483964;COSM444511 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4742 0.3784 0.3887 0.5829 0.1309 0.5208 0.5502 0.4801 0.4710 0.4722 0.3792 0.4105 0.6192 0.1293 0.4871 0.5591 0.4918 hom 743.82 25 21 42845383 . A G 743.82 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=29.75;VQSLOD=8.7086;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:63.19:777,63,0 21 43161022 43161022 C T exonic RIPK4 synonymous SNV RIPK4:NM_020639:exon8:c.G2331A:p.T777T 0.45 0.28 0.47 0.59 0.49 0.46 0.4531 0.3218 0.4619 0.6074 0.4912 0.4543 0.4598 0.4204 0.39 0.31 0.43 0.36 0.3 rs7276592 COSM1751658;COSM1751659 2(urinary_tract);1(liver);1(thyroid);2(large_intestine) Benign|Benign not_specified|Popliteal_pterygium_syndrome RCV000245188.1|RCV000336076.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265259:119500:66783006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4493 0.3134 0.4661 0.4307 0.6054 0.4779 0.4490 0.4569 0.3942 0.4225 0.3163 0.4639 0.4702 0.6002 0.4751 0.4508 0.4033 het 1224.98 85 21 43161022 . C T 1224.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.806;DP=85;Dels=0.00;FS=7.656;HRun=0;HaplotypeScore=2.7012;MQ=58.46;MQ0=0;MQRankSum=-1.087;QD=14.41;ReadPosRankSum=-0.094;VQSLOD=3.7438;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,47:85:99:1255,0,893 21 43161252 43161252 G A exonic RIPK4 nonsynonymous SNV RIPK4:NM_020639:exon8:c.C2101T:p.P701S 0.0028 . 0.0058 . 0.005 0.0051 0.0057 0.0012 0.0043 0 0.0005 0.0086 0.0079 0.0028 0.007 0.0009 0.01 . . rs35537517 . . Benign not_provided RCV000224013.1 MedGen CN221809 . . . . . . 0.357 0.120 T 1.0 0.899 D 0.998 0.875 D 0.000 0.523 D 0.890 0.359 D -0.3 0.036 N 2.48 0.147 T 0.38 0.036 N 0.092 0.176 -0.975 0.361 T 0.021 0.089 T . . . 1.904 0.290 15.61 0.987 0.440 0.985 0.830 D c 0.123 0.154 1.000 0.747 0.563 0.310 0 4.61 0.566 3.887 0.557 0.953 0.551 1.000 0.715 0.347 0.245 11.722 0.508 Ankyrin repeat-containing domain . . 0.0059 0.0015 0.0056 0.0049 0 0.0004 0.0095 0.0074 0.0033 0.0044 0.0010 0.0072 0.0066 0.0006 0 0.0075 0.0041 het 2443.75 168 21 43161252 . G A 2443.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.512;DP=168;Dels=0.00;FS=5.694;HRun=0;HaplotypeScore=5.5961;MQ=59.39;MQ0=0;MQRankSum=2.431;QD=14.55;ReadPosRankSum=0.602;VQSLOD=3.3254;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:74,94:168:99:2474,0,1914 21 43161357 43161357 T C exonic RIPK4 nonsynonymous SNV RIPK4:NM_020639:exon8:c.A1996G:p.M666V 0.96 1. 1. 0.91 0.98 0.89 0.9652 0.9948 0.9939 0.9132 0.9915 0.9766 0.9689 0.8959 0.98 0.99 0.97 0.97 0.93 rs3746891 COSM4134938;COSM4134939 1(thyroid) Benign|Benign not_specified|Popliteal_pterygium_syndrome RCV000241808.1|RCV000361869.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265259:119500:66783006 . . . . . . 0.988 0.040 T 0.0 0.026 B 0.0 0.013 B 0.238 0.158 N 1 0.090 P -0.645 0.021 N -0.03 0.631 T -0.08 0.082 N 0.004 0.014 -1.014 0.257 T 0.000 0.000 T . . . -0.455 0.058 0.284 0.537 0.049 0.014 0.047 N c -1.333 -1.292 0.988 0.313 0.563 0.310 0 -0.094 0.129 0.675 0.247 -1.163 0.017 0.001 0.137 0.025 0.141 2.795 0.050 Ankyrin repeat-containing domain . . 0.9665 0.9957 0.9945 0.9838 0.9180 0.9915 0.9746 0.9741 0.8955 0.9788 0.9951 0.9940 0.9967 0.9166 0.9894 0.9730 0.9684 hom 4085.60 128 21 43161357 . T C 4085.60 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1357;MQ=59.82;MQ0=0;QD=31.92;VQSLOD=8.9454;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4085,349,0 21 43161805 43161805 G A exonic RIPK4 synonymous SNV RIPK4:NM_020639:exon8:c.C1548T:p.D516D 0.53 0.25 0.58 0.61 0.66 0.67 0.6020 0.3019 0.6025 0.6189 0.6324 0.6341 0.6181 0.6391 0.51 0.31 0.62 0.14 0.53 rs2838113 COSM4002030;COSM4002031 1(breast);2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(thyroid) Benign|Benign not_specified|Popliteal_pterygium_syndrome RCV000249847.1|RCV000387649.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265259:119500:66783006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6084 0.2959 0.6122 0.6497 0.6189 0.6220 0.6334 0.6258 0.6373 0.5321 0.3022 0.6041 0.6490 0.6217 0.6140 0.6278 0.5806 het 1957.02 178 21 43161805 . G A 1957.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.390;DP=178;Dels=0.00;FS=3.712;HRun=0;HaplotypeScore=2.8034;MQ=59.32;MQ0=0;MQRankSum=-1.179;QD=10.99;ReadPosRankSum=0.638;VQSLOD=5.6690;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:104,74:178:99:1987,0,2672 21 43161877 43161877 C T exonic RIPK4 synonymous SNV RIPK4:NM_020639:exon8:c.G1476A:p.A492A 0.44 0.28 0.47 0.57 0.48 0.46 0.4434 0.3183 0.4592 0.5931 0.4880 0.4478 0.4548 0.3965 0.4 0.32 0.44 0.25 0.33 rs3746893 COSM3758887;COSM3758886 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) Benign|Benign not_specified|Popliteal_pterygium_syndrome RCV000245571.1|RCV000334409.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265259:119500:66783006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4470 0.3162 0.4655 0.4107 0.5923 0.4792 0.4485 0.4573 0.3925 0.4227 0.3176 0.4665 0.4470 0.5897 0.4756 0.4517 0.4043 het 2550.23 189 21 43161877 . C T 2550.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.174;DP=189;Dels=0.00;FS=5.127;HRun=0;HaplotypeScore=3.7953;MQ=60.00;MQ0=0;MQRankSum=0.738;QD=13.49;ReadPosRankSum=0.528;VQSLOD=5.0786;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:93,96:189:99:2580,0,2407 21 43162150 43162150 G A exonic RIPK4 synonymous SNV RIPK4:NM_020639:exon8:c.C1203T:p.G401G 0.44 0.28 0.47 0.57 0.48 0.46 0.4517 0.3195 0.4616 0.5963 0.4879 0.4526 0.4531 0.4207 0.4 0.32 0.44 0.39 0.31 rs3746894 COSM3766657;COSM3766656 1(haematopoietic_and_lymphoid_tissue);2(liver);1(thyroid) Benign|Benign not_specified|Popliteal_pterygium_syndrome RCV000253546.1|RCV000398058.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265259:119500:66783006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4506 0.3153 0.4664 0.4196 0.5939 0.4781 0.4507 0.4582 0.3983 0.4225 0.3171 0.4666 0.45 0.5881 0.4745 0.4522 0.4029 het 2333.04 220 21 43162150 . G A 2333.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.294;DP=220;DS;Dels=0.00;FS=0.560;HRun=0;HaplotypeScore=11.0914;MQ=58.65;MQ0=0;MQRankSum=0.858;QD=10.60;ReadPosRankSum=1.857;VQSLOD=3.5950;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,94:220:99:2363,0,3850 21 43164232 43164232 C A exonic RIPK4 synonymous SNV RIPK4:NM_020639:exon7:c.G1005T:p.L335L 0.38 0.23 0.42 0.48 0.46 0.39 0.4126 0.2861 0.4288 0.5158 0.4463 0.4324 0.4260 0.3313 0.36 0.27 0.41 0.32 0.24 rs2277789 COSM4134941;COSM4134940 1(haematopoietic_and_lymphoid_tissue);2(thyroid) Benign|Benign not_specified|Popliteal_pterygium_syndrome RCV000248581.1|RCV000398046.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0265259:119500:66783006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4030 0.2649 0.4202 0.3610 0.5069 0.4193 0.4238 0.4160 0.3190 0.3815 0.2616 0.4197 0.3859 0.5223 0.4205 0.4251 0.3763 het 406.02 32 21 43164232 . C A 406.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.880;DP=32;Dels=0.00;FS=2.127;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.779;QD=12.69;ReadPosRankSum=-0.665;VQSLOD=6.1823;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,14:32:99:436,0,575 21 43221483 43221483 A G exonic PRDM15 nonsynonymous SNV PRDM15:NM_001040424:exon24:c.T3454C:p.S1152P,PRDM15:NM_001282934:exon25:c.T3514C:p.S1172P,PRDM15:NM_022115:exon31:c.T4441C:p.S1481P 1. 1. 1. 1. 0.99 1. 0.9970 0.9982 0.9976 0.9997 0.9992 0.9956 0.9976 0.9998 0.99 1. 0.99 0.92 0.87 rs3850706 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.191 P -1.735 0.003 N 3.22 0.079 T 0.85 0.017 N 0.026 0.103 -0.980 0.349 T 0.000 0.000 T . . . -0.824 0.039 0.038 0.131 0.002 0.003 0.016 N c -1.507 -1.411 1.000 0.517 0.563 0.310 0 3.3 0.368 2.222 0.423 -0.372 0.066 0.070 0.219 0.002 0.062 8.788 0.338 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9971 0.9983 0.9973 0.9938 1 0.9998 0.9953 0.9964 0.9999 0.9972 0.9982 0.9988 1 1 1 0.9955 0.9990 hom 3657.70 99 21 43221483 . A G 3657.70 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.3269;MQ=59.77;MQ0=0;QD=36.95;VQSLOD=8.1203;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3657,292,0 21 43221826 43221826 T C exonic PRDM15 synonymous SNV PRDM15:NM_001040424:exon24:c.A3111G:p.L1037L,PRDM15:NM_001282934:exon25:c.A3171G:p.L1057L,PRDM15:NM_022115:exon31:c.A4098G:p.L1366L 0.79 0.96 0.62 0.77 0.7 0.79 0.7472 0.9213 0.6291 0.7693 0.7751 0.7260 0.7345 0.7835 0.79 0.91 0.73 0.86 0.87 rs2236696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7389 0.9258 0.6264 0.7089 0.7691 0.7801 0.7242 0.7274 0.7868 0.7946 0.9205 0.6086 0.6722 0.7680 0.7885 0.7406 0.7622 hom 2438.54 73 21 43221826 . T C 2438.54 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.40;MQ0=0;QD=33.40;VQSLOD=9.4129;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2472,199,0 21 43239972 43239972 A G exonic PRDM15 synonymous SNV PRDM15:NM_001040424:exon18:c.T2337C:p.N779N,PRDM15:NM_001282934:exon19:c.T2397C:p.N799N,PRDM15:NM_022115:exon25:c.T3324C:p.N1108N 0.84 0.91 0.86 0.71 0.89 0.82 0.8741 0.9171 0.8469 0.7121 0.9398 0.8977 0.8764 0.8305 0.9 0.92 0.9 0.75 0.86 rs28477638 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8705 0.9190 0.8446 0.8674 0.7106 0.9351 0.8969 0.8787 0.8240 0.9000 0.9210 0.8520 0.8676 0.7056 0.9427 0.9027 0.8929 hom 1916.79 63 21 43239972 . A G 1916.79 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5082;MQ=60.00;MQ0=0;QD=30.43;VQSLOD=7.8326;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:63:99:1950,162,0 21 43256252 43256252 C T exonic PRDM15 synonymous SNV PRDM15:NM_001040424:exon10:c.G1359A:p.Q453Q,PRDM15:NM_001282934:exon10:c.G1359A:p.Q453Q,PRDM15:NM_022115:exon17:c.G2346A:p.Q782Q 0.54 0.46 0.67 0.44 0.59 0.58 0.5836 0.4691 0.7154 0.4397 0.5964 0.5950 0.5958 0.5868 0.55 0.48 0.59 0.55 0.52 rs4920098 COSM4002035 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5914 0.4700 0.7069 0.6621 0.4413 0.5786 0.5934 0.5988 0.5882 0.5546 0.4838 0.6859 0.6556 0.4341 0.5812 0.5909 0.5917 hom 2338.59 85 21 43256252 . C T 2338.59 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.46;MQ0=0;QD=27.51;VQSLOD=8.2701;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2372,184,0 21 43256629 43256629 G A exonic PRDM15 synonymous SNV PRDM15:NM_001040424:exon9:c.C1242T:p.C414C,PRDM15:NM_001282934:exon9:c.C1242T:p.C414C,PRDM15:NM_022115:exon16:c.C2229T:p.C743C 0.01 . 0.011 . 0.035 0.0092 0.0225 0.0046 0.0089 0.0001 0.0302 0.0327 0.0154 0.0110 0.025 0.0077 0.034 0.022 0.025 rs73219067 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0223 0.0047 0.0094 0.0161 5.798e-05 0.0274 0.0345 0.0213 0.0117 0.0227 0.0065 0.0095 0.0132 0 0.0321 0.0326 0.0337 het 2115.84 195 21 43256629 . G A 2115.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.471;DP=195;Dels=0.00;FS=2.523;HRun=0;HaplotypeScore=2.6811;MQ=59.62;MQ0=0;MQRankSum=1.188;QD=10.85;ReadPosRankSum=-0.209;VQSLOD=5.6337;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,85:195:99:2146,0,2833 21 43327793 43327793 C T exonic C2CD2 synonymous SNV C2CD2:NM_199050:exon8:c.G654A:p.S218S,C2CD2:NM_015500:exon9:c.G1119A:p.S373S 0.37 0.32 0.47 0.39 0.35 0.35 0.3780 0.3482 0.5372 0.4042 0.3950 0.3594 0.4041 0.3373 0.35 0.36 0.35 0.36 0.26 rs3746904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3792 0.3430 0.5207 0.3146 0.4034 0.3994 0.3523 0.3633 0.3344 0.3558 0.3490 0.4569 0.3179 0.4123 0.3692 0.3466 0.3425 het 662.02 35 21 43327793 . C T 662.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.469;DP=35;Dels=0.00;FS=4.092;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.095;QD=18.91;ReadPosRankSum=-0.990;VQSLOD=4.5616;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:12,23:35:99:692,0,286 21 43327856 43327856 A G exonic C2CD2 synonymous SNV C2CD2:NM_199050:exon8:c.T591C:p.F197F,C2CD2:NM_015500:exon9:c.T1056C:p.F352F 0.61 0.62 0.52 0.59 0.65 0.62 0.6182 0.6246 0.4610 0.5811 0.6131 0.6423 0.6144 0.6482 0.63 0.61 0.64 0.56 0.68 rs3746906 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6113 0.6158 0.4743 0.6726 0.5765 0.5988 0.6432 0.6285 0.6486 0.6272 0.6054 0.5419 0.6633 0.5681 0.6293 0.6486 0.6459 het 652.39 57 21 43327856 . A G 652.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.043;DP=57;Dels=0.00;FS=7.450;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.123;QD=11.45;ReadPosRankSum=0.682;VQSLOD=4.8861;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,26:57:99:682,0,754 21 43412705 43412705 A G exonic ZBTB21 synonymous SNV ZBTB21:NM_001320729:exon2:c.T1500C:p.N500N,ZBTB21:NM_020727:exon2:c.T1500C:p.N500N,ZBTB21:NM_001098402:exon3:c.T1500C:p.N500N,ZBTB21:NM_001098403:exon3:c.T1500C:p.N500N,ZBTB21:NM_001320731:exon4:c.T1500C:p.N500N 0.028 0.0023 0.035 . 0.1 0.011 0.0771 0.0197 0.0303 0 0.1585 0.1107 0.0672 0.0184 0.079 0.024 0.11 0.011 0.14 rs61751943 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0773 0.0188 0.0334 0.0195 5.798e-05 0.1605 0.1147 0.0807 0.0196 0.0881 0.0186 0.0346 0.0166 0 0.1631 0.1234 0.1110 het 1710.62 134 21 43412705 . A G 1710.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.640;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4875;MQ=58.78;MQ0=0;MQRankSum=1.862;QD=12.77;ReadPosRankSum=-1.045;VQSLOD=5.5989;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,73:134:99:1741,0,1557 21 43413553 43413553 T G exonic ZBTB21 nonsynonymous SNV ZBTB21:NM_001320729:exon2:c.A652C:p.K218Q,ZBTB21:NM_020727:exon2:c.A652C:p.K218Q,ZBTB21:NM_001098402:exon3:c.A652C:p.K218Q,ZBTB21:NM_001098403:exon3:c.A652C:p.K218Q,ZBTB21:NM_001320731:exon4:c.A652C:p.K218Q 0.18 0.14 0.13 0.076 0.26 0.26 0.2219 0.1579 0.1000 0.0533 0.2868 0.2600 0.2203 0.2563 0.23 0.17 0.26 0.17 0.31 rs871546 COSM3758891 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.19 0.296 T 0.041 0.200 B 0.032 0.208 B 0.320 0.143 N 1 0.090 P 2.47 0.719 M 3.08 0.098 T -0.14 0.092 N 0.143 0.168 -1.012 0.262 T 0.000 0.000 T . . . 3.240 0.448 22.8 0.978 0.358 0.887 0.484 D c -0.201 -0.108 1.000 0.747 0.566 0.321 0 4.64 0.572 2.961 0.486 1.061 0.807 0.931 0.321 0.998 0.697 11.897 0.518 . . . 0.2175 0.1568 0.1073 0.1696 0.0533 0.2889 0.2630 0.2202 0.2577 0.2284 0.1667 0.1516 0.1358 0.0512 0.2923 0.2723 0.2663 het 1765.53 125 21 43413553 . T G 1765.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.453;DP=125;Dels=0.00;FS=3.629;HRun=0;HaplotypeScore=1.9565;MQ=59.65;MQ0=0;MQRankSum=-0.042;QD=14.12;ReadPosRankSum=-0.428;VQSLOD=6.5001;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,66:125:99:1796,0,1723 21 43413651 43413651 T C exonic ZBTB21 nonsynonymous SNV ZBTB21:NM_001320729:exon2:c.A554G:p.N185S,ZBTB21:NM_020727:exon2:c.A554G:p.N185S,ZBTB21:NM_001098402:exon3:c.A554G:p.N185S,ZBTB21:NM_001098403:exon3:c.A554G:p.N185S,ZBTB21:NM_001320731:exon4:c.A554G:p.N185S 0.099 0.038 0.076 0.066 0.19 0.14 0.1466 0.0569 0.0674 0.0480 0.2070 0.1836 0.1222 0.1382 0.15 0.061 0.19 0.087 0.2 rs871545 COSM5426142 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.952 0.035 T 0.0 0.026 B 0.002 0.063 B 0.399 0.131 N 1 0.090 P -0.41 0.029 N 3.52 0.067 T -0.48 0.191 N 0.001 0.000 -0.941 0.425 T 0.000 0.000 T . . . -2.692 0.002 0.001 0.271 0.013 0.042 0.096 N c -1.579 -1.533 1.000 0.439 0.563 0.310 0 -2.96 0.052 -0.134 0.103 -0.822 0.031 0.000 0.063 0.001 0.043 8.312 0.311 . ENSG00000237232.3 Adipose_Subcutaneous 0.1463 0.0569 0.0730 0.1240 0.0478 0.2108 0.1873 0.1395 0.1390 0.1436 0.0582 0.1098 0.0795 0.0451 0.2129 0.1881 0.1857 het 3986.09 250 21 43413651 . T C 3986.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.965;DP=250;DS;Dels=0.00;FS=2.827;HRun=0;HaplotypeScore=5.2255;MQ=58.91;MQ0=0;MQRankSum=1.139;QD=15.94;ReadPosRankSum=-0.530;VQSLOD=5.0171;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,124:250:99:3383,0,3195 21 43413731 43413731 C T exonic ZBTB21 synonymous SNV ZBTB21:NM_001320729:exon2:c.G474A:p.A158A,ZBTB21:NM_020727:exon2:c.G474A:p.A158A,ZBTB21:NM_001098402:exon3:c.G474A:p.A158A,ZBTB21:NM_001098403:exon3:c.G474A:p.A158A,ZBTB21:NM_001320731:exon4:c.G474A:p.A158A 0.69 0.72 0.51 0.66 0.72 0.78 0.6750 0.7205 0.3766 0.6900 0.6024 0.7062 0.6806 0.7507 0.71 0.72 0.71 0.74 0.77 rs915837 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6614 0.7293 0.3906 0.7521 0.6950 0.6000 0.7065 0.6847 0.7519 0.6886 0.7284 0.4677 0.7367 0.7019 0.6063 0.6964 0.6622 hom 5368.33 167 21 43413731 . C T 5368.33 Mask AC=2;AF=1.00;AN=2;DP=167;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;QD=32.15;VQSLOD=8.9756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5368,427,0 21 43510514 43510514 C G exonic UMODL1 synonymous SNV UMODL1:NM_001004416:exon6:c.C897G:p.A299A,UMODL1:NM_001199527:exon6:c.C681G:p.A227A,UMODL1:NM_001199528:exon6:c.C681G:p.A227A,UMODL1:NM_173568:exon6:c.C897G:p.A299A 0.29 0.46 0.2 0.1 0.28 0.3 0.2741 0.4445 0.1408 0.1157 0.2129 0.2925 0.2684 0.2996 0.34 0.43 0.29 0.18 0.33 rs2839464 COSM4134952;COSM4134951 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2639 0.4470 0.1529 0.3510 0.1108 0.2093 0.2898 0.2817 0.2944 0.3048 0.4431 0.1706 0.3974 0.1157 0.2080 0.2784 0.2239 het 1758.86 151 21 43510514 . C G 1758.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.901;DP=151;Dels=0.00;FS=7.422;HRun=0;HaplotypeScore=1.6644;MQ=59.35;MQ0=0;MQRankSum=-0.748;QD=11.65;ReadPosRankSum=0.800;VQSLOD=4.5317;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:81,70:151:99:1789,0,2173 21 43522349 43522349 T C exonic UMODL1 synonymous SNV UMODL1:NM_001004416:exon8:c.T1260C:p.S420S,UMODL1:NM_001199527:exon8:c.T1044C:p.S348S,UMODL1:NM_001199528:exon8:c.T1044C:p.S348S,UMODL1:NM_173568:exon8:c.T1260C:p.S420S 0.54 0.45 0.65 0.58 0.54 0.56 0.5498 0.4635 0.6858 0.5823 0.5425 0.5354 0.5770 0.5483 0.53 0.49 0.54 0.52 0.56 rs220109 COSM5425329;COSM5425328 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5555 0.4619 0.6685 0.5396 0.5804 0.5422 0.5360 0.5590 0.5505 0.5213 0.4649 0.6241 0.5298 0.5445 0.5312 0.5410 0.5574 het 1757.99 132 21 43522349 . T C 1757.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.193;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9986;MQ=58.68;MQ0=0;MQRankSum=2.275;QD=13.32;ReadPosRankSum=-0.045;VQSLOD=5.7098;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,76:132:99:1788,0,1297 21 43531008 43531008 T C exonic UMODL1 nonsynonymous SNV UMODL1:NM_001004416:exon11:c.T1676C:p.M559T,UMODL1:NM_001199527:exon11:c.T1460C:p.M487T,UMODL1:NM_001199528:exon11:c.T1460C:p.M487T,UMODL1:NM_173568:exon11:c.T1676C:p.M559T 0.77 0.58 0.85 0.89 0.8 0.8 0.8117 0.6402 0.9058 0.8798 0.8541 0.8052 0.8143 0.8202 0.75 0.66 0.8 0.73 0.68 rs220126 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.424 0.128 N 1 0.090 P -1.795 0.003 N -0.45 0.699 T 2.48 0.002 N 0.01 0.045 -0.966 0.379 T 0.000 0.000 T . . . -1.891 0.009 0.002 0.404 0.028 0.000 0.003 N c -1.496 -1.429 1.000 0.416 0.497 0.185 0 1.88 0.245 -0.136 0.103 0.067 0.174 0.000 0.063 0.161 0.208 6.416 0.208 SEA domain ENSG00000177398.14|ENSG00000184385.2|ENSG00000184385.2 Lung|Lung|Whole_Blood 0.8147 0.6222 0.8945 0.7969 0.8818 0.8500 0.7999 0.8084 0.8152 0.7676 0.6293 0.8711 0.7649 0.8770 0.8473 0.8083 0.8224 het 71.98 12 21 43531008 . T C 71.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.825;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;MQRankSum=2.180;QD=6.00;ReadPosRankSum=-1.468;VQSLOD=4.7751;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,4:12:99:102,0,222 21 43531403 43531403 C G exonic UMODL1 nonsynonymous SNV UMODL1:NM_001199527:exon11:c.C1855G:p.R619G,UMODL1:NM_173568:exon11:c.C2071G:p.R691G 0.72 0.43 0.83 0.88 0.81 0.79 0.8424 0.5821 0.9302 0.9116 0.8927 0.8510 0.8279 0.8258 0.75 0.6 0.81 0.65 0.11 rs220127 COSM3758894 1(thyroid);4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . -0.57 0.713 T 0.28 0.042 N 0.013 0.002 -0.985 0.339 T 0.000 0.000 T . . . -0.144 0.081 1.423 0.470 0.038 0.002 0.011 N c -1.568 -1.703 0.999 0.390 0.497 0.185 0 -3.33 0.046 -2.930 0.007 -2.652 0.002 0.000 0.063 0.000 0.016 2.009 0.032 . ENSG00000184385.2 Whole_Blood 0.7993 0.4884 0.8528 0.7938 0.8563 0.8525 0.8013 0.7937 0.7970 0.7280 0.4982 0.8578 0.7770 0.8703 0.8387 0.8058 0.8118 het 174.15 19 21 43531403 . C G 174.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.048;DP=19;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=58.78;MQ0=0;MQRankSum=-1.010;QD=9.17;ReadPosRankSum=0.337;VQSLOD=5.2457;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,10:19:99:204,0,278 21 43531553 43531553 A C exonic UMODL1 nonsynonymous SNV UMODL1:NM_001199527:exon11:c.A2005C:p.T669P,UMODL1:NM_173568:exon11:c.A2221C:p.T741P 0.42 0.16 0.51 0.54 0.53 0.46 0.4950 0.2246 0.5437 0.5315 0.5530 0.5265 0.5079 0.4501 0.42 0.23 0.51 0.34 0.37 rs220128 COSM5427260 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.093 0.202 N 1 0.090 P . . . -0.61 0.718 T 2.26 0.003 N 0.02 0.004 -0.973 0.365 T 0.000 0.000 T . . . -1.520 0.016 0.002 0.454 0.035 0.004 0.021 N c -1.592 -1.626 0.997 0.355 0.497 0.185 0 -0.782 0.104 -0.228 0.090 -1.216 0.015 0.000 0.063 0.000 0.016 3.390 0.068 Fibronectin type III ENSG00000177398.14|ENSG00000184385.2|ENSG00000177398.14|ENSG00000157617.12|ENSG00000184385.2|ENSG00000177398.14|ENSG00000177398.14|ENSG00000184385.2 Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Thyroid|Whole_Blood|Whole_Blood 0.5025 0.2203 0.5410 0.5081 0.5302 0.5563 0.5278 0.5124 0.4508 0.4529 0.2197 0.5382 0.48 0.5230 0.5762 0.5411 0.5411 het 1447.73 102 21 43531553 . A C 1447.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.442;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.12;MQ0=0;MQRankSum=-0.844;QD=14.19;ReadPosRankSum=-0.810;VQSLOD=6.4068;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,56:102:99:1478,0,1204 21 43531632 43531632 T C exonic UMODL1 nonsynonymous SNV UMODL1:NM_001199527:exon11:c.T2084C:p.I695T,UMODL1:NM_173568:exon11:c.T2300C:p.I767T,UMODL1:NM_001004416:exon12:c.T1916C:p.I639T,UMODL1:NM_001199528:exon12:c.T1700C:p.I567T 0.78 0.61 0.86 0.86 0.82 0.83 0.8208 0.6453 0.9122 0.8595 0.8553 0.8180 0.8170 0.8386 0.77 0.67 0.81 0.74 0.79 rs220129 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.233 0.159 N 1 0.090 P -1.65 0.004 N -0.57 0.713 T 1.65 0.006 N 0.009 0.004 -0.957 0.397 T 0.000 0.000 T . . . -1.591 0.015 0.002 0.699 0.088 0.001 0.007 N c -1.704 -1.609 0.998 0.369 0.497 0.185 0 1.72 0.234 -0.424 0.070 -1.713 0.008 0.000 0.063 0.000 0.016 6.829 0.229 Fibronectin type III ENSG00000184385.2 Whole_Blood 0.8275 0.6354 0.9028 0.8175 0.8610 0.8561 0.8172 0.8249 0.8418 0.7805 0.6458 0.8876 0.7848 0.8533 0.8525 0.8249 0.8265 het 1221.57 96 21 43531632 . T C 1221.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.043;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.7317;MQ=59.28;MQ0=0;MQRankSum=-0.148;QD=12.72;ReadPosRankSum=-0.701;VQSLOD=4.7058;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,45:96:99:1252,0,1318 21 43531808 43531808 A C exonic UMODL1 nonsynonymous SNV UMODL1:NM_001199527:exon11:c.A2260C:p.T754P,UMODL1:NM_173568:exon11:c.A2476C:p.T826P,UMODL1:NM_001004416:exon12:c.A2092C:p.T698P,UMODL1:NM_001199528:exon12:c.A1876C:p.T626P 0.2 0.18 0.23 0.2 0.22 0.17 0.1993 0.1886 0.2071 0.1855 0.1972 0.2082 0.1888 0.1720 0.19 0.17 0.2 0.18 0.16 rs220130 COSM4134955;COSM4134954 1(oesophagus);1(thyroid) . . . . . . . . . . . 0.109 0.308 T 0.001 0.067 B 0.003 0.080 B 0.462 0.049 N 1 0.090 P 1.525 0.387 L 0.41 0.571 T -1.75 0.454 N 0.033 0.035 -1.031 0.200 T 0.000 0.000 T . . . 0.673 0.158 8.650 0.461 0.036 0.012 0.042 N c -1.421 -1.534 1.000 0.747 0.497 0.185 0 -7.2 0.013 -1.103 0.034 -1.015 0.021 0.000 0.063 0.000 0.016 11.169 0.476 Fibronectin type III;SEA domain . . 0.1969 0.1804 0.2061 0.2595 0.1849 0.1870 0.2042 0.1973 0.1637 0.1938 0.1830 0.2002 0.2417 0.1780 0.1801 0.2035 0.1965 het 935.09 83 21 43531808 . A C 935.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.713;DP=83;Dels=0.00;FS=19.028;HRun=5;HaplotypeScore=1.6671;MQ=59.72;MQ0=0;MQRankSum=-0.125;QD=11.27;ReadPosRankSum=-0.395;VQSLOD=3.2613;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,42:83:99:965,0,854 21 43547788 43547788 T C exonic UMODL1 synonymous SNV UMODL1:NM_001199527:exon19:c.T3705C:p.P1235P,UMODL1:NM_173568:exon19:c.T3921C:p.P1307P,UMODL1:NM_001004416:exon20:c.T3537C:p.P1179P,UMODL1:NM_001199528:exon20:c.T3321C:p.P1107P 0.82 0.78 0.89 0.76 0.91 0.77 0.8748 0.7811 0.8806 0.7839 0.8646 0.9152 0.9022 0.8126 0.88 0.79 0.92 0.78 0.93 rs220158 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8755 0.7795 0.8792 0.9690 0.7825 0.8664 0.9111 0.9053 0.8137 0.8554 0.7813 0.8735 0.9801 0.7756 0.8669 0.8998 0.8724 hom 2656.21 81 21 43547788 . T C 2656.21 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.79;VQSLOD=13.8509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2689,211,0 21 43557559 43557559 T A exonic UMODL1 synonymous SNV UMODL1:NM_001199527:exon21:c.T3954A:p.P1318P,UMODL1:NM_173568:exon21:c.T4170A:p.P1390P,UMODL1:NM_001004416:exon22:c.T3786A:p.P1262P,UMODL1:NM_001199528:exon22:c.T3570A:p.P1190P 0.34 0.18 0.37 0.41 0.37 0.41 0.3756 0.2155 0.3812 0.4046 0.4155 0.3765 0.3909 0.4310 0.32 0.21 0.38 0.4 0.44 rs3819141 COSM3758896;COSM3758895 2(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3778 0.2170 0.3755 0.3919 0.4020 0.4227 0.3723 0.3641 0.4319 0.3333 0.2154 0.3720 0.4172 0.3954 0.4136 0.3704 0.3676 het 2933.63 250 21 43557559 . T A 2933.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DP=250;DS;Dels=0.00;FS=3.673;HRun=0;HaplotypeScore=3.6851;MQ=59.53;MQ0=0;MQRankSum=-0.647;QD=11.73;ReadPosRankSum=1.462;VQSLOD=5.0708;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:143,107:250:99:2964,0,3993 21 43852232 43852232 C T exonic UBASH3A synonymous SNV UBASH3A:NM_001001895:exon8:c.C1077T:p.S359S,UBASH3A:NM_001243467:exon8:c.C1077T:p.S359S,UBASH3A:NM_018961:exon9:c.C1191T:p.S397S 0.26 0.19 0.26 0.22 0.33 0.3 0.3171 0.2265 0.3250 0.2103 0.3676 0.3395 0.3607 0.3124 0.29 0.22 0.33 0.26 0.39 rs13052676 COSM3758910 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3106 0.2149 0.3190 0.3319 0.2004 0.3527 0.3304 0.3316 0.2983 0.2919 0.2145 0.3449 0.3212 0.1970 0.3546 0.3255 0.3443 het 414.89 43 21 43852232 . C T 414.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.236;DP=43;Dels=0.00;FS=1.249;HRun=0;HaplotypeScore=1.9148;MQ=58.14;MQ0=0;MQRankSum=1.801;QD=9.65;ReadPosRankSum=0.758;VQSLOD=5.3554;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,17:43:99:445,0,597 21 43854985 43854985 A C exonic UBASH3A synonymous SNV UBASH3A:NM_001001895:exon9:c.A1200C:p.P400P,UBASH3A:NM_001243467:exon9:c.A1200C:p.P400P,UBASH3A:NM_018961:exon10:c.A1314C:p.P438P 0.25 0.49 0.2 0.21 0.13 0.14 0.1888 0.4509 0.2589 0.1943 0.1749 0.1553 0.1850 0.1124 0.24 0.44 0.15 0.35 0.22 rs17114925 COSM4418679 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1838 0.4509 0.2521 0.1539 0.1869 0.1746 0.1508 0.1829 0.1111 0.2403 0.4395 0.2601 0.1433 0.1819 0.1738 0.1507 0.1871 het 1101.99 110 21 43854985 . A C 1101.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.891;DP=110;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.3119;MQ=59.39;MQ0=0;MQRankSum=1.689;QD=10.02;ReadPosRankSum=-1.652;VQSLOD=3.2543;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,42:110:99:1132,0,1871 21 43857602 43857602 C G exonic UBASH3A nonsynonymous SNV UBASH3A:NM_001001895:exon10:c.C1284G:p.D428E,UBASH3A:NM_001243467:exon10:c.C1284G:p.D428E,UBASH3A:NM_018961:exon11:c.C1398G:p.D466E 0.062 0.17 0.042 . 0.045 0.012 0.0418 0.1512 0.0249 0.0001 0.0179 0.0430 0.0407 0.0113 0.076 0.14 0.041 0.11 0.066 rs17114930 COSM4134962 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.104 B 0.258 0.154 N 1.000 0.196 P -1.245 0.008 N -0.45 0.699 T 1.51 0.007 N 0.022 0.005 -1.079 0.075 T 0.000 0.001 T . . . -1.249 0.024 0.005 0.185 0.006 0.179 0.198 N c -1.740 -1.641 0.840 0.248 0.554 0.283 0 -2.35 0.063 -0.107 0.108 -2.964 0.001 0.845 0.301 0.008 0.104 5.382 0.154 . . . 0.0371 0.1480 0.0248 0.0275 0.0001 0.0195 0.0425 0.0445 0.0110 0.0637 0.1463 0.0298 0.0199 0 0.0229 0.0370 0.0316 het 667.60 64 21 43857602 . C G 667.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.449;DP=64;Dels=0.00;FS=6.220;HRun=1;HaplotypeScore=0.9159;MQ=59.53;MQ0=1;MQRankSum=-0.148;QD=10.43;ReadPosRankSum=-1.173;VQSLOD=4.5152;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,25:64:99:698,0,1045 21 43863521 43863521 A G exonic UBASH3A synonymous SNV UBASH3A:NM_001001895:exon12:c.A1617G:p.P539P,UBASH3A:NM_018961:exon13:c.A1731G:p.P577P 0.62 0.59 0.66 0.52 0.69 0.66 0.7138 0.6399 0.7626 0.5450 0.7525 0.7449 0.7077 0.6657 0.7 0.63 0.73 0.67 0.56 rs868092 COSM5763785 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6971 0.6223 0.7422 0.6786 0.4950 0.7231 0.7342 0.6933 0.6500 0.6946 0.6368 0.7488 0.6556 0.4938 0.7298 0.7385 0.7076 hom 911.47 29 21 43863521 . A G 911.47 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.43;VQSLOD=14.1315;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:78.22:944,78,0 21 43896143 43896143 C T exonic RSPH1 nonsynonymous SNV RSPH1:NM_001286506:exon7:c.G628A:p.G210R,RSPH1:NM_080860:exon8:c.G742A:p.G248R 0.084 0.0076 0.13 0.011 0.17 0.14 0.1549 0.0317 0.1668 0.0071 0.1604 0.1919 0.1692 0.1491 0.14 0.036 0.19 0.12 0.21 rs117385282 COSM149236 1(stomach);1(large_intestine) Benign not_specified RCV000213462.2 MedGen CN169374 . . . . . . 0.527 0.071 T 0.003 0.102 B 0.001 0.040 B 0.213 0.163 N 1 0.090 P 1.5 0.380 L 0.29 0.600 T -1.65 0.395 N 0.028 0.011 -1.069 0.097 T 0.000 0.000 T . . . 0.958 0.186 10.42 0.382 0.025 0.011 0.040 N c -1.167 -1.226 0.998 0.369 0.741 0.978 0 -0.712 0.106 -0.745 0.049 -0.478 0.053 0.000 0.063 0.001 0.043 2.818 0.051 . . . 0.1558 0.0306 0.1606 0.1778 0.0054 0.1566 0.1935 0.1692 0.1507 0.1301 0.0321 0.1885 0.1689 0.0012 0.1518 0.1902 0.1616 het 1123.58 83 21 43896143 . C T 1123.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.210;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8055;MQ=59.55;MQ0=0;MQRankSum=0.241;QD=13.54;ReadPosRankSum=0.715;VQSLOD=6.3435;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:39,44:83:99:1154,0,1003 21 43985955 43985955 G A exonic SLC37A1 nonsynonymous SNV SLC37A1:NM_001320537:exon15:c.G1240A:p.V414I,SLC37A1:NM_018964:exon16:c.G1240A:p.V414I 0.82 0.99 0.93 0.51 0.87 0.78 0.8521 0.9791 0.9205 0.5044 0.8535 0.8884 0.8139 0.7606 0.92 0.98 0.9 0.9 0.9 rs228104 COSM4002047 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.888 0.025 T 0.001 0.067 B 0.001 0.040 B 0.031 0.252 N 1 0.090 P 0.055 0.082 N 0.26 0.593 T 0.24 0.045 N 0.065 0.051 -0.953 0.406 T 0.000 0.000 T . . . 0.373 0.130 6.371 0.778 0.116 0.009 0.036 N c -1.352 -1.300 0.999 0.381 0.719 0.830 0 -3.5 0.044 0.437 0.211 -1.077 0.019 0.761 0.290 0.839 0.350 15.418 0.746 Major facilitator superfamily domain ENSG00000235772.1|ENSG00000160190.9|ENSG00000160190.9|ENSG00000235772.1|ENSG00000160190.9 Adipose_Subcutaneous|Muscle_Skeletal|Testis|Thyroid|Thyroid 0.8534 0.9807 0.9208 0.8445 0.5100 0.8536 0.8956 0.8615 0.7569 0.8971 0.9779 0.8909 0.8411 0.5323 0.8561 0.9017 0.8776 het 1401.04 143 21 43985955 . G A 1401.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.039;DP=143;Dels=0.00;FS=4.017;HRun=0;HaplotypeScore=4.1441;MQ=59.36;MQ0=0;MQRankSum=0.720;QD=9.80;ReadPosRankSum=0.010;VQSLOD=5.4434;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,59:143:99:1431,0,2139 21 44180443 44180443 C T exonic PDE9A synonymous SNV PDE9A:NM_001001580:exon6:c.C252T:p.C84C,PDE9A:NM_001001575:exon7:c.C423T:p.C141C,PDE9A:NM_001001576:exon7:c.C252T:p.C84C,PDE9A:NM_001001569:exon8:c.C519T:p.C173C,PDE9A:NM_001001572:exon8:c.C282T:p.C94C,PDE9A:NM_001001577:exon8:c.C501T:p.C167C,PDE9A:NM_001001568:exon9:c.C522T:p.C174C,PDE9A:NM_001001573:exon9:c.C282T:p.C94C,PDE9A:NM_001001578:exon9:c.C597T:p.C199C,PDE9A:NM_001001579:exon9:c.C282T:p.C94C,PDE9A:NM_001001571:exon10:c.C600T:p.C200C,PDE9A:NM_001001574:exon10:c.C645T:p.C215C,PDE9A:NM_001001581:exon10:c.C702T:p.C234C,PDE9A:NM_001001584:exon10:c.C282T:p.C94C,PDE9A:NM_001001585:exon10:c.C282T:p.C94C,PDE9A:NM_001001567:exon11:c.C723T:p.C241C,PDE9A:NM_001001570:exon11:c.C744T:p.C248C,PDE9A:NM_001001582:exon11:c.C780T:p.C260C,PDE9A:NM_001001583:exon11:c.C825T:p.C275C,PDE9A:NM_001315533:exon12:c.C579T:p.C193C,PDE9A:NM_002606:exon12:c.C903T:p.C301C 0.23 0.022 0.22 0.41 0.44 0.11 0.3509 0.0767 0.1867 0.4298 0.4421 0.4509 0.3652 0.1524 0.32 0.084 0.43 0.21 0.47 rs13047953 COSM5829117;COSM149237 1(stomach);1(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3482 0.0723 0.2110 0.4186 0.4242 0.4382 0.4470 0.3831 0.1514 0.3462 0.0857 0.2434 0.4007 0.4252 0.4593 0.4622 0.4312 hom 1690.25 60 21 44180443 . C T 1690.25 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.270;DP=60;Dels=0.00;FS=5.006;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;MQRankSum=1.617;QD=28.17;ReadPosRankSum=1.386;VQSLOD=3.4798;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,59:60:99:1723,121,0 21 44293744 44293744 C G exonic WDR4 nonsynonymous SNV WDR4:NM_001260474:exon3:c.G213C:p.K71N,WDR4:NM_018669:exon3:c.G213C:p.K71N,WDR4:NM_033661:exon3:c.G213C:p.K71N 0.5 0.73 0.32 0.34 0.53 0.48 0.4968 0.7055 0.2946 0.3260 0.5638 0.5103 0.4857 0.5157 0.58 0.69 0.52 0.54 0.53 rs2248490 COSM3758916 1(bone);1(large_intestine) . . . . . . . . . . . 0.411 0.101 T 0.496 0.352 P 0.156 0.328 B 0.981 0.078 N 0.836 0.287 P 2.48 0.723 M 1.59 0.288 T -1.7 0.404 N 0.032 0.137 -0.914 0.464 T 0.000 0.000 T . . . 2.856 0.404 21.6 0.993 0.578 0.849 0.437 D c 0.138 0.210 0.965 0.288 0.707 0.730 0 3.52 0.393 1.749 0.377 0.852 0.362 1.000 0.715 1.000 0.888 5.791 0.175 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000160194.13|ENSG00000160193.7 Skin_Not_Sun_Exposed_Suprapubic|Testis 0.4854 0.7108 0.3065 0.4346 0.3256 0.5603 0.5160 0.4614 0.5129 0.5506 0.7012 0.3413 0.4305 0.3450 0.5642 0.4991 0.5020 het 2427.25 182 21 44293744 . C G 2427.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.918;DP=182;DS;Dels=0.00;FS=3.664;HRun=0;HaplotypeScore=1.9989;MQ=59.41;MQ0=0;MQRankSum=-1.177;QD=13.34;ReadPosRankSum=-1.477;VQSLOD=5.6552;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:94,88:182:99:2457,0,2641 21 44323590 44323590 T G exonic NDUFV3 synonymous SNV NDUFV3:NM_021075:exon3:c.T468G:p.S156S 0.53 0.73 0.35 0.34 0.59 0.53 0.5637 0.7167 0.3179 0.3290 0.6288 0.6055 0.5562 0.5681 0.64 0.71 0.61 0.55 0.57 rs4148973 COSM4134964 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5520 0.7198 0.3341 0.5805 0.3290 0.6267 0.6083 0.5330 0.5670 0.6142 0.7102 0.3828 0.5762 0.3466 0.6263 0.6001 0.5816 het 2893.95 235 21 44323590 . T G 2893.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.121;DP=235;DS;Dels=0.00;FS=4.519;HRun=0;HaplotypeScore=8.3585;MQ=58.99;MQ0=0;MQRankSum=-0.757;QD=12.31;ReadPosRankSum=0.869;VQSLOD=4.2898;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,115:235:99:2924,0,3223 21 44323720 44323720 C T exonic NDUFV3 stopgain NDUFV3:NM_021075:exon3:c.C598T:p.R200X 0.052 0.0038 0.059 0.08 0.075 0.06 0.0630 0.0097 0.0588 0.0955 0.0945 0.0634 0.0671 0.0662 0.04 0.0093 0.056 0.065 0.057 rs4148974 . . . . . . . . . . . . . . . . . . . . . . 0.912 0.074 N 1 0.810 A . . . . . . . . . . . . . . . . . . . . 7.299 0.948 34 0.952 0.257 0.079 0.137 N c -0.224 -0.645 0.047 0.147 0.707 0.730 0 -4.99 0.028 -0.234 0.090 0.104 0.200 0.000 0.063 0.001 0.043 9.733 0.393 . ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13|ENSG00000160194.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood 0.0631 0.0091 0.0530 0.0834 0.0942 0.0933 0.0601 0.0613 0.0658 0.0477 0.0115 0.0526 0.0795 0.0923 0.0844 0.0540 0.0553 het 1463.22 126 21 44323720 . C T 1463.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.187;DP=126;Dels=0.00;FS=2.315;HRun=0;HaplotypeScore=4.1778;MQ=59.12;MQ0=0;MQRankSum=-1.072;QD=11.61;ReadPosRankSum=-0.642;VQSLOD=5.4517;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,53:126:99:1493,0,1910 21 44324365 44324365 G A exonic NDUFV3 nonsynonymous SNV NDUFV3:NM_021075:exon3:c.G1243A:p.D415N 0.53 0.73 0.35 0.34 0.59 0.53 0.6067 0.7316 0.4043 0.3953 0.6600 0.6363 0.5777 0.5916 0.64 0.7 0.61 0.55 0.31 rs10595 COSM4134965 1(bone);1(thyroid) . . . . . . . . . . . 0.021 0.491 D . . . . . . 0.170 0.031 N 1 0.182 P . . . . . . -1.59 0.383 N 0.001 0.000 -0.932 0.439 T 0.000 0.000 T . . . 0.907 0.181 10.12 0.970 0.312 0.144 0.182 N c -0.443 -0.593 0.017 0.130 0.707 0.730 0 2.94 0.330 0.773 0.261 0.785 0.317 0.029 0.202 0.002 0.062 7.899 0.287 . ENSG00000160194.13|ENSG00000160194.13|ENSG00000160193.7 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.5502 0.7187 0.3368 0.5797 0.3293 0.6262 0.6075 0.5262 0.5657 0.6129 0.7092 0.3807 0.5695 0.3453 0.6264 0.5984 0.5798 het 287.35 25 21 44324365 . G A 287.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.356;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.07;MQ0=0;MQRankSum=0.301;QD=11.49;ReadPosRankSum=-0.958;VQSLOD=6.6056;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,11:25:99:317,0,434 21 44430325 44430325 T C exonic PKNOX1 synonymous SNV PKNOX1:NM_001320694:exon4:c.T342C:p.T114T,PKNOX1:NM_004571:exon4:c.T342C:p.T114T 0.85 0.9 0.78 0.77 0.88 0.86 0.8770 0.9057 0.7613 0.7618 0.9172 0.9054 0.8937 0.8661 0.91 0.91 0.91 0.83 0.61 rs234781 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8758 0.9042 0.7760 0.8684 0.7563 0.9175 0.9065 0.8740 0.8623 0.9067 0.9034 0.7943 0.8344 0.7636 0.9185 0.9281 0.9216 het 247.99 29 21 44430325 . T C 247.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.432;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=58.70;MQ0=0;MQRankSum=0.509;QD=8.55;ReadPosRankSum=-1.616;VQSLOD=5.8518;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,12:29:99:278,0,475 21 44485350 44485350 G A exonic CBS;CBSL synonymous SNV CBS:NM_001321072:exon5:c.C384T:p.Y128Y,CBS:NM_000071:exon8:c.C699T:p.Y233Y,CBS:NM_001178008:exon8:c.C699T:p.Y233Y,CBS:NM_001178009:exon8:c.C699T:p.Y233Y,CBSL:NM_001321073:exon8:c.C699T:p.Y233Y,CBS:NM_001320298:exon9:c.C699T:p.Y233Y 0.2 0.22 0.18 0.033 0.31 0.23 0.2763 0.2328 0.1713 0.0231 0.2722 0.3414 0.3102 0.2471 0.31 0.23 0.34 0.23 0.27 rs234706 COSM1414309;COSM1414310 1(breast);1(thyroid);1(large_intestine) Benign|Benign|Benign not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Homocystinuria RCV000078110.7|RCV000247442.1|RCV000377779.1 MedGen|MedGen:Orphanet|MedGen CN169374|CN118826:ORPHA91387|C0019880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2742 0.2284 0.1850 0.3487 0.0226 0.2759 0.3460 0.2763 0.2493 0.2845 0.2331 0.2249 0.3113 0.0253 0.2781 0.3459 0.2988 het 1217.30 109 21 44485350 . G A 1217.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.285;DP=109;Dels=0.00;FS=1.669;HRun=0;HaplotypeScore=2.8598;MQ=60.00;MQ0=0;MQRankSum=0.899;QD=11.17;ReadPosRankSum=-0.686;VQSLOD=6.1158;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,48:109:99:1247,0,1517 21 44589215 44589215 C T exonic CRYAA;LOC102724652 synonymous SNV CRYAA:NM_000394:exon1:c.C6T:p.D2D,LOC102724652:NM_001314050:exon1:c.C6T:p.D2D 0.5 0.76 0.54 0.22 0.59 0.31 0.5404 0.7359 0.4638 0.1993 0.5787 0.6080 0.5509 0.3605 0.64 0.73 0.6 0.52 0.57 rs872331 COSM4134966 1(thyroid) Benign|Benign not_specified|Congenital_cataract RCV000241735.1|RCV000264346.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0000519:C1842324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5334 0.7341 0.4741 0.5772 0.2038 0.5690 0.6092 0.5695 0.3625 0.6063 0.7361 0.4821 0.5762 0.2137 0.5644 0.5937 0.5573 hom 4119.56 123 21 44589215 . C T 4119.56 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5044;MQ=59.44;MQ0=0;QD=33.49;VQSLOD=8.9632;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:123:99:4119,343,0 21 44837551 44837551 G A exonic LOC102724428;SIK1 synonymous SNV LOC102724428:NM_001320643:exon13:c.C1848T:p.P616P,SIK1:NM_173354:exon13:c.C1848T:p.P616P 0.73 0.48 0.86 0.88 0.79 0.73 0.8000 0.5596 0.9096 0.8961 0.8970 0.8066 0.8292 0.7456 0.72 0.56 0.81 0.56 0.49 rs430552 COSM3758921 1(liver);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8011 0.5207 0.9016 0.7306 0.8902 0.8924 0.7975 0.7883 0.7320 0.7315 0.5034 0.8702 0.7162 0.8904 0.8819 0.7974 0.8364 het 120.07 11 21 44837551 . G A 120.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DP=11;Dels=0.00;FS=2.632;HRun=0;HaplotypeScore=0.9734;MQ=57.87;MQ0=0;MQRankSum=1.031;QD=10.92;ReadPosRankSum=1.408;VQSLOD=4.2216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:150,0,174 21 44837555 44837555 G A exonic LOC102724428;SIK1 nonsynonymous SNV LOC102724428:NM_001320643:exon13:c.C1844T:p.A615V,SIK1:NM_173354:exon13:c.C1844T:p.A615V 0.83 0.71 0.91 0.9 0.88 0.83 0.8900 0.7620 0.9454 0.9072 0.9635 0.8973 0.9137 0.8609 0.85 0.76 0.89 0.71 0.51 rs430554 COSM3766658 1(pancreas);1(liver) . . . . . . . . . . . 0.005 0.632 D 0.281 0.304 B 0.075 0.268 B 0.280 0.149 U 1.000 0.090 P 1.04 0.263 L -0.59 0.716 T -0.9 0.242 N 0.027 0.009 -1.004 0.287 T 0.000 0.000 T . . . 1.313 0.222 12.34 0.992 0.537 0.954 0.644 D c -0.447 -0.477 1.000 0.747 0.632 0.406 0 2.25 0.272 5.794 0.685 0.949 0.536 0.998 0.411 0.200 0.217 10.627 0.445 . . . 0.8886 0.7382 0.9420 0.8400 0.8997 0.9613 0.8893 0.8762 0.8517 0.8533 0.7171 0.9173 0.8221 0.9047 0.9561 0.8952 0.9230 hom 227.50 11 21 44837555 . G A 227.50 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9399;MQ=57.87;MQ0=0;QD=20.68;VQSLOD=2.9506;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,9:11:24.05:260,24,0 21 44846016 44846016 C T exonic LOC102724428;SIK1 nonsynonymous SNV LOC102724428:NM_001320643:exon2:c.G43A:p.G15S,SIK1:NM_173354:exon2:c.G43A:p.G15S 0.17 0.013 0.29 0.22 0.27 0.13 0.2813 0.0580 0.3805 0.2742 0.3643 0.3197 0.2974 0.1642 0.19 0.048 0.26 0.15 0.19 rs3746951 COSM3758922 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.395 0.106 T 0.007 0.131 B 0.001 0.040 B 0.087 0.205 N 1 0.090 P -0.255 0.038 N -0.52 0.707 T -0.51 0.160 N 0.046 0.026 -1.082 0.070 T 0.000 0.000 T . . . 1.564 0.250 13.65 0.980 0.370 0.153 0.187 N c -0.717 -0.629 1.000 0.747 0.652 0.477 0 2.39 0.284 1.032 0.296 0.802 0.324 0.009 0.180 0.080 0.181 5.022 0.136 . . . 0.2305 0.0403 0.3133 0.2130 0.2099 0.2579 0.2540 0.2367 0.1392 0.1838 0.0455 0.2943 0.1987 0.2244 0.2473 0.2375 0.2020 het 310.67 18 21 44846016 . C T 310.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.690;DP=18;Dels=0.00;FS=2.112;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.380;QD=17.26;ReadPosRankSum=-0.690;VQSLOD=5.6188;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,13:18:99:341,0,111 21 45096206 45096206 G A exonic RRP1B synonymous SNV RRP1B:NM_015056:exon7:c.G603A:p.A201A 0.65 0.43 0.73 0.84 0.63 0.71 0.6519 0.4632 0.8194 0.7984 0.7040 0.6222 0.6435 0.6762 0.56 0.47 0.6 0.62 0.68 rs2155722 COSM149238 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6599 0.4569 0.8059 0.6298 0.8037 0.6974 0.6140 0.6561 0.6721 0.5964 0.4557 0.7703 0.6324 0.8175 0.6790 0.6213 0.6459 hom 4727.59 154 21 45096206 . G A 4727.59 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7791;MQ=59.12;MQ0=0;QD=30.70;VQSLOD=9.3353;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:154:99:4701,364,0 21 45107518 45107518 A G exonic RRP1B synonymous SNV RRP1B:NM_015056:exon13:c.A1263G:p.P421P 0.97 1. 1. 0.85 1. 1. 0.9852 0.9988 0.9994 0.8091 1 0.9999 0.9925 0.9982 1. 1. 1. 0.95 0.66 rs7279959 COSM3758924 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9850 0.9988 0.9996 1 0.8133 1 0.9998 0.9944 0.9980 0.9905 0.9995 0.9988 1 0.8253 1 0.9999 0.9939 hom 1478.23 44 21 45107518 . A G 1478.23 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5475;MQ=59.48;MQ0=0;QD=33.60;VQSLOD=8.6067;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1511,129,0 21 45107562 45107562 T C exonic RRP1B nonsynonymous SNV RRP1B:NM_015056:exon13:c.T1307C:p.L436P 0.8 0.98 0.8 0.84 0.62 0.71 0.6952 0.9363 0.8507 0.8022 0.7038 0.6181 0.6761 0.6838 0.7 0.92 0.59 0.77 0.38 rs9306160 . . . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.169 0.031 N 1 0.090 P -0.345 0.033 N 1.48 0.317 T 0.68 0.022 N 0.012 0.001 -0.934 0.436 T 0.000 0.000 T . . . -1.178 0.026 0.007 0.112 0.002 0.022 0.064 N c -1.822 -1.841 0.998 0.369 0.707 0.730 0 -3.16 0.049 -0.116 0.106 -1.689 0.008 0.000 0.063 0.000 0.016 0.590 0.007 . ENSG00000160209.14|ENSG00000160209.14|ENSG00000160207.4|ENSG00000160209.14|ENSG00000160208.11|ENSG00000234289.4|ENSG00000160207.4|ENSG00000160208.11 Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Mucosa|Testis|Testis|Whole_Blood 0.6906 0.9371 0.8353 0.6420 0.8055 0.6952 0.6037 0.6807 0.6689 0.7245 0.9281 0.8098 0.6457 0.8179 0.6747 0.6083 0.6554 hom 1040.58 36 21 45107562 . T C 1040.58 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7987;MQ=58.71;MQ0=0;QD=28.91;VQSLOD=8.1162;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:36:90.20:1074,90,0 21 45217559 45217559 T C exonic RRP1 synonymous SNV RRP1:NM_003683:exon7:c.T600C:p.I200I 0.7 0.83 0.7 0.79 0.41 0.75 0.5647 0.8102 0.7641 0.7504 0.4755 0.4397 0.5145 0.7257 0.57 0.82 0.44 0.69 0.36 rs2838378 COSM149239 1(stomach);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5641 0.8126 0.7417 0.4780 0.7517 0.4659 0.4324 0.5349 0.7226 0.5664 0.8003 0.7129 0.5364 0.7540 0.4685 0.4273 0.5318 hom 5430.28 185 21 45217559 . T C 5430.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.758;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4863;MQ=59.34;MQ0=0;MQRankSum=1.695;QD=29.35;ReadPosRankSum=-0.197;VQSLOD=6.4270;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,184:185:99:5396,427,0 21 45217929 45217929 T C exonic RRP1 synonymous SNV RRP1:NM_003683:exon8:c.T759C:p.G253G 0.4 0.61 0.36 0.32 0.21 0.43 0.3102 0.5693 0.3740 0.2913 0.1927 0.2412 0.2790 0.4466 0.34 0.55 0.24 0.41 0.21 rs2838379 COSM3758925 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3009 0.5655 0.3570 0.2784 0.2897 0.1829 0.2376 0.3009 0.4362 0.3317 0.5567 0.3505 0.3278 0.2799 0.1903 0.2423 0.2730 het 605.74 61 21 45217929 . T C 605.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.334;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.62;MQ0=0;MQRankSum=0.016;QD=9.93;ReadPosRankSum=0.644;VQSLOD=6.4808;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,25:61:99:636,0,989 21 45217936 45217936 C T exonic RRP1 nonsynonymous SNV RRP1:NM_003683:exon8:c.C766T:p.R256C 0.003 0.0008 0.0014 . . 0.013 0.0027 0.0014 0.0004 0 0.0005 0.0029 0.0047 0.0066 0.0024 0.0005 0.0033 . . rs200937759 . . . . . . . . . . . . . . . . 0.001 0.637 B 0.0 0.495 B 0.003 0.010 N 1 0.090 N 0.59 0.155 N 1.45 0.325 T -0.68 0.195 N 0.09 0.088 -0.896 0.484 T 0.062 0.259 T . . . 0.885 0.178 9.979 0.929 0.219 0.129 0.174 N c -1.315 -1.542 1.000 0.458 0.672 0.522 0 -7.63 0.011 -1.827 0.018 -1.170 0.017 0.000 0.063 0.000 0.016 2.199 0.036 . . . 0.0022 0.0008 0.0003 0 0 0.0004 0.0027 0.0016 0.0063 0.0021 0.0003 0 0 0 0.0003 0.0040 0.0020 het 962.92 57 21 45217936 . C T 962.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.903;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.60;MQ0=0;MQRankSum=0.040;QD=16.89;ReadPosRankSum=-0.606;VQSLOD=5.2037;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,33:57:99:993,0,573 21 45219524 45219524 T C exonic RRP1 synonymous SNV RRP1:NM_003683:exon9:c.T885C:p.V295V 0.35 0.42 0.34 0.32 0.21 0.43 0.3092 0.4029 0.3973 0.3124 0.2170 0.2511 0.2890 0.4597 0.28 0.37 0.24 0.27 0.12 rs4566449 COSM4134970 1(bone);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2862 0.3938 0.3432 0.2766 0.2875 0.1812 0.2347 0.2847 0.4356 0.2837 0.3922 0.3373 0.3233 0.2766 0.1904 0.2406 0.2637 het 198.41 12 21 45219524 . T C 198.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.289;DP=12;Dels=0.00;FS=3.090;HRun=1;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;MQRankSum=0.289;QD=16.53;ReadPosRankSum=-1.835;VQSLOD=5.7632;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,8:12:99:228,0,108 21 45220483 45220483 A G exonic RRP1 nonsynonymous SNV RRP1:NM_003683:exon10:c.A977G:p.K326R 0.26 0.34 0.3 0.23 0.16 0.27 0.2167 0.3282 0.3304 0.2185 0.1275 0.1715 0.1871 0.2900 0.22 0.31 0.18 0.22 0.16 rs915770 COSM149240 1(stomach);1(large_intestine) . . . . . . . . . . . . . . 1.0 0.899 D 0.996 0.832 D 0.032 0.251 N 0.003 0.432 P 1.93 0.516 L 5.16 0.012 T -1.86 0.435 N 0.091 0.089 -0.793 0.556 T 0.000 0.000 T . . . 2.828 0.401 21.5 0.998 0.928 0.742 0.360 D c 0.535 0.516 1.000 0.420 0.707 0.730 0 5.2 0.716 2.013 0.403 1.001 0.622 1.000 0.715 0.998 0.697 11.493 0.495 . ENSG00000160213.5|ENSG00000160214.8|ENSG00000160214.8|ENSG00000160213.5|ENSG00000160213.5|ENSG00000160214.8|ENSG00000160213.5 Adipose_Subcutaneous|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.2167 0.3279 0.3171 0.2333 0.2140 0.1257 0.1691 0.2198 0.2859 0.2173 0.3242 0.3098 0.2815 0.2062 0.1225 0.1735 0.1914 het 1128.18 93 21 45220483 . A G 1128.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DP=93;Dels=0.00;FS=1.877;HRun=0;HaplotypeScore=2.5730;MQ=58.88;MQ0=0;MQRankSum=0.766;QD=12.13;ReadPosRankSum=0.843;VQSLOD=6.5133;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,44:93:99:1158,0,1195 21 45391272 45391272 C T exonic AGPAT3 nonsynonymous SNV AGPAT3:NM_001037553:exon6:c.C668T:p.A223V,AGPAT3:NM_020132:exon7:c.C668T:p.A223V 0.0086 0.0008 0.0058 . 0.027 0.011 0.0243 0.0035 0.0122 0.0002 0.0416 0.0321 0.0209 0.0205 0.019 0.005 0.026 0.011 0.041 rs62229686 . . . . . . . . . . . . . 0.064 0.574 T 0.066 0.221 B 0.033 0.210 B 0.099 0.200 N 1.000 0.210 N 0.6 0.156 N -0.96 0.756 T -1.39 0.344 N 0.11 0.407 -0.833 0.532 T 0.111 0.400 T . . . 1.893 0.288 15.54 0.996 0.714 0.263 0.227 N c -0.455 -0.368 1.000 0.432 0.707 0.730 0 4.53 0.548 1.462 0.347 0.888 0.391 0.003 0.159 0.715 0.313 17.277 0.869 Phospholipid/glycerol acyltransferase . . 0.0237 0.0037 0.0103 0.0363 0.0002 0.0425 0.0300 0.0263 0.0202 0.0224 0.0053 0.0060 0.0364 0 0.0435 0.0303 0.0245 het 3129.49 250 21 45391272 . C T 3129.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.804;DP=250;DS;Dels=0.00;FS=0.507;HRun=0;HaplotypeScore=4.1274;MQ=59.39;MQ0=0;MQRankSum=0.335;QD=12.52;ReadPosRankSum=-0.238;VQSLOD=5.4852;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3159,0,3519 21 45503121 45503121 G A exonic TRAPPC10 nonsynonymous SNV TRAPPC10:NM_001351709:exon7:c.G775A:p.V259M,TRAPPC10:NM_003274:exon14:c.G2176A:p.V726M 0.39 0.67 0.3 0.3 0.15 0.44 0.2611 0.6277 0.3235 0.2870 0.1459 0.1630 0.2262 0.4140 0.31 0.61 0.16 0.41 0.22 rs2071152 COSM5905137 1(skin) . . . . . . . . . . . 0.189 0.212 T 0.024 0.178 B 0.009 0.133 B 0.044 0.237 N 0.999 0.221 P 0.55 0.145 N 1.91 0.233 T 0.01 0.069 N 0.024 0.007 -0.980 0.350 T 0.000 0.000 T . . . -0.057 0.088 2.074 0.661 0.077 0.652 0.324 D c -1.095 -1.037 1.000 0.747 0.731 0.878 0 -1.09 0.093 1.666 0.368 -0.251 0.090 0.888 0.309 0.003 0.074 6.640 0.220 . ENSG00000160218.8|ENSG00000241945.3|ENSG00000241945.3|ENSG00000241945.3|ENSG00000241945.3|ENSG00000141959.12|ENSG00000241945.3|ENSG00000160218.8 Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Thyroid 0.2531 0.6317 0.3081 0.2454 0.2924 0.1481 0.1574 0.2212 0.4074 0.3017 0.6183 0.2967 0.2733 0.3007 0.1569 0.1576 0.2214 het 1973.64 170 21 45503121 . G A 1973.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.570;DP=170;Dels=0.00;FS=1.969;HRun=0;HaplotypeScore=3.8539;MQ=59.21;MQ0=0;MQRankSum=-1.133;QD=11.61;ReadPosRankSum=0.176;VQSLOD=5.7410;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:95,75:170:99:2004,0,2267 21 45506819 45506819 T C exonic TRAPPC10 synonymous SNV TRAPPC10:NM_001351709:exon9:c.T1116C:p.A372A,TRAPPC10:NM_003274:exon16:c.T2517C:p.A839A 0.42 0.75 0.32 0.3 0.16 0.44 0.2765 0.6928 0.3327 0.2867 0.1487 0.1777 0.2456 0.4210 0.35 0.67 0.18 0.5 0.26 rs1131999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2674 0.6974 0.3182 0.2755 0.2936 0.1535 0.1719 0.2374 0.4149 0.3290 0.6862 0.3079 0.2881 0.3037 0.1594 0.1718 0.2357 het 1305.83 104 21 45506819 . T C 1305.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.239;DP=104;Dels=0.00;FS=0.830;HRun=1;HaplotypeScore=2.6766;MQ=59.33;MQ0=0;MQRankSum=0.452;QD=12.56;ReadPosRankSum=0.960;VQSLOD=6.3519;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,54:104:99:1336,0,1424 21 45528919 45528919 G A exonic PWP2 nonsynonymous SNV PWP2:NM_005049:exon2:c.G73A:p.D25N 0.57 0.25 0.67 0.7 0.82 0.55 0.7156 0.3033 0.6629 0.7115 0.8460 0.8109 0.7445 0.5748 0.64 0.32 0.81 0.51 0.72 rs2020945 COSM5618358 1(breast) . . . . . . . . . . . 0.074 0.410 T 0.696 0.398 P 0.059 0.252 B 0.000 0.843 D 0.001 0.471 P 1.45 0.368 L -0.24 0.668 T -3.28 0.789 D 0.065 0.075 -1.010 0.269 T 0.000 0.000 T . . . 2.730 0.389 21.0 0.999 0.950 0.979 0.777 D c 0.016 0.044 1.000 0.747 0.737 0.974 0 3.87 0.437 7.497 0.802 0.902 0.416 1.000 0.715 0.303 0.238 13.315 0.597 WD40/YVTN repeat-like-containing domain ENSG00000241945.3|ENSG00000241945.3|ENSG00000160218.8|ENSG00000241945.3|ENSG00000241945.3|ENSG00000241945.3|ENSG00000241945.3|ENSG00000241945.3|ENSG00000141959.12|ENSG00000241945.3|ENSG00000241945.3|ENSG00000160218.8 Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Testis|Thyroid 0.7249 0.2982 0.6768 0.7419 0.7051 0.8434 0.8141 0.7517 0.5810 0.6608 0.3104 0.6945 0.7252 0.6965 0.8330 0.8110 0.7566 het 612.88 76 21 45528919 . G A 612.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.861;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=0.257;QD=8.06;ReadPosRankSum=0.770;VQSLOD=5.9003;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,29:76:99:643,0,1183 21 45538647 45538647 T C exonic PWP2 synonymous SNV PWP2:NM_005049:exon9:c.T984C:p.I328I . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.103 0.017 0.151 0.174 0.707 0.730 0 2.8 0.317 3.623 0.537 0.795 0.322 1.000 0.715 0.808 0.339 6.205 0.197 . . . . . . . . . . . . . . . . . . . . het 1459.67 105 21 45538647 . T C 1459.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.088;DP=105;Dels=0.00;FS=3.639;HRun=0;HaplotypeScore=2.6812;MQ=59.42;MQ0=0;MQRankSum=-0.869;QD=13.90;ReadPosRankSum=0.087;VQSLOD=5.3088;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,55:105:99:1490,0,1322 21 45540919 45540919 A G exonic PWP2 synonymous SNV PWP2:NM_005049:exon13:c.A1572G:p.T524T 0.58 0.28 0.68 0.7 0.82 0.56 0.7191 0.3330 0.6658 0.7146 0.8461 0.8112 0.7511 0.5775 0.65 0.35 0.81 0.55 0.72 rs2071143 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7280 0.3286 0.6800 0.7424 0.7070 0.8433 0.8144 0.7537 0.5845 0.6700 0.3423 0.6950 0.7252 0.6972 0.8332 0.8112 0.7587 het 1387.30 116 21 45540919 . A G 1387.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.394;DP=116;Dels=0.00;FS=18.877;HRun=1;HaplotypeScore=1.9780;MQ=59.68;MQ0=0;MQRankSum=0.220;QD=11.96;ReadPosRankSum=0.053;VQSLOD=3.4190;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,50:116:99:1417,0,1916 21 45544594 45544594 T C exonic PWP2 synonymous SNV PWP2:NM_005049:exon15:c.T1951C:p.L651L . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 0.961 -0.015 1.000 0.428 0.707 0.730 0 2.76 0.314 1.564 0.358 0.691 0.297 0.986 0.359 0.992 0.562 8.574 0.326 . . . . . . . . . . . . . . . . . . . . het 1144.75 72 21 45544594 . T C 1144.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.22;MQ0=0;MQRankSum=-0.797;QD=15.90;ReadPosRankSum=1.042;VQSLOD=5.6448;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,42:72:99:1175,0,707 21 45553596 45553596 T C exonic C21orf33 nonsynonymous SNV C21orf33:NM_001320383:exon1:c.T17C:p.V6A,C21orf33:NM_001320384:exon1:c.T17C:p.V6A,C21orf33:NM_004649:exon1:c.T17C:p.V6A,C21orf33:NM_198155:exon1:c.T17C:p.V6A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -1.760 -1.730 1.000 0.747 0.442 0.072 0 -1.32 0.087 -0.146 0.101 -0.013 0.131 0.000 0.063 0.023 0.138 8.835 0.341 . . . . . . . . . . . . . . . . . . . . het 209.10 18 21 45553596 . T C 209.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.821;DP=18;Dels=0.00;FS=11.830;HRun=2;HaplotypeScore=0.9867;MQ=60.00;MQ0=0;MQRankSum=0.044;QD=11.62;ReadPosRankSum=1.377;VQSLOD=4.1689;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,10:18:99:239,0,212 21 45709906 45709906 C G exonic AIRE nonsynonymous SNV AIRE:NM_000383:exon7:c.C834G:p.S278R 0.23 0.31 0.13 0.35 0.084 0.22 0.1579 0.2990 0.1139 0.3934 0.1247 0.1041 0.1536 0.1925 0.16 0.28 0.092 0.24 0.11 rs1800520 . . other not_specified RCV000116303.4 MedGen CN169374 . . . . . . 0.689 0.043 T 0.0 0.026 B 0.0 0.013 B 0.028 0.257 N 1 0.090 P -2.095 0.002 N -3.47 0.945 D 1.03 0.014 N 0.108 0.115 -0.989 0.328 T 0.000 0.000 T . . . -0.745 0.043 0.057 0.588 0.059 0.000 0.002 N c -1.519 -1.458 0.927 0.268 0.581 0.326 0 1.58 0.224 -0.168 0.098 0.093 0.196 0.000 0.063 0.006 0.095 3.242 0.063 SAND domain . . 0.1409 0.2868 0.1005 0.1204 0.3782 0.1076 0.0932 0.1250 0.1839 0.1632 0.2804 0.0871 0.1026 0.3865 0.1096 0.0924 0.1137 het 212.91 13 21 45709906 . C G 212.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.370;DP=13;Dels=0.00;FS=6.892;HRun=1;HaplotypeScore=1.6006;MQ=60.00;MQ0=0;MQRankSum=0.185;QD=16.38;ReadPosRankSum=1.294;VQSLOD=3.9729;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:4,9:13:80.75:243,0,81 21 45712977 45712977 T C exonic AIRE synonymous SNV AIRE:NM_000383:exon10:c.T1197C:p.A399A 0.36 0.5 0.32 0.25 0.36 0.31 0.3780 0.5063 0.3218 0.2691 0.4479 0.3899 0.4062 0.3215 0.39 0.48 0.35 0.13 0.34 rs1800521 COSM444569;COSM1483985 1(thyroid);2(large_intestine) other not_specified RCV000116299.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3494 0.4893 0.2937 0.3661 0.2422 0.4182 0.3616 0.3573 0.3059 0.3846 0.4772 0.2883 0.3079 0.2426 0.4131 0.3490 0.3436 het 315.86 29 21 45712977 . T C 315.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.162;DP=29;Dels=0.00;FS=1.623;HRun=2;HaplotypeScore=0.5784;MQ=59.20;MQ0=0;MQRankSum=-1.601;QD=10.89;ReadPosRankSum=-0.855;VQSLOD=5.0287;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,13:29:99:346,0,451 21 45717550 45717550 T C exonic AIRE synonymous SNV AIRE:NM_000383:exon14:c.T1578C:p.D526D 0.53 0.67 0.48 0.64 0.41 0.39 0.4611 0.6509 0.5144 0.6599 0.4029 0.4134 0.4455 0.4155 0.49 0.65 0.42 0.56 0.41 rs1133779 COSM3773998;COSM329123 1(haematopoietic_and_lymphoid_tissue);1(kidney);2(thyroid) other not_specified RCV000116300.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4572 0.6522 0.5056 0.4470 0.6598 0.4080 0.4082 0.4330 0.4139 0.4831 0.6364 0.4845 0.3907 0.6725 0.4172 0.3938 0.4296 het 767.77 69 21 45717550 . T C 767.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.799;DP=69;Dels=0.00;FS=0.937;HRun=0;HaplotypeScore=1.6385;MQ=58.31;MQ0=0;MQRankSum=1.113;QD=11.13;ReadPosRankSum=0.283;VQSLOD=5.9945;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,32:69:99:798,0,997 21 45725746 45725746 C T exonic PFKL stopgain PFKL:NM_001002021:exon4:c.C163T:p.R55X 0.017 0.0038 0.03 . 0.047 0.014 0.0353 0.0103 0.0218 0.0001 0.0169 0.0517 0.0275 0.0189 0.035 0.008 0.049 0.011 0.057 rs118169148 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0318 0.0083 0.0252 0.0484 5.845e-05 0.0165 0.0472 0.0389 0.0176 0.0282 0.0106 0.0334 0.06 0 0.0172 0.0427 0.0347 het 367.23 43 21 45725746 . C T 367.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.564;DP=43;Dels=0.00;FS=5.002;HRun=0;HaplotypeScore=2.6822;MQ=59.57;MQ0=0;MQRankSum=-0.454;QD=8.54;ReadPosRankSum=0.143;VQSLOD=4.8962;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,14:43:99:397,0,761 21 45732116 45732116 C T exonic PFKL synonymous SNV PFKL:NM_002626:exon4:c.C366T:p.L122L,PFKL:NM_001002021:exon7:c.C516T:p.L172L 0.46 0.29 0.52 0.38 0.58 0.61 0.5522 0.3386 0.5074 0.3882 0.5415 0.5993 0.5580 0.5981 0.48 0.3 0.57 0.43 0.39 rs1057034 COSM4134981 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5260 0.2968 0.4877 0.5113 0.3522 0.5097 0.5843 0.5368 0.5807 0.4921 0.3171 0.5179 0.5464 0.3468 0.5043 0.6007 0.5523 het 239.38 21 21 45732116 . C T 239.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.213;DP=21;Dels=0.00;FS=2.350;HRun=1;HaplotypeScore=0.0000;MQ=57.99;MQ0=0;MQRankSum=0.189;QD=11.40;ReadPosRankSum=-0.945;VQSLOD=5.1496;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,11:21:99:269,0,326 21 45733867 45733867 A T exonic PFKL nonsynonymous SNV PFKL:NM_002626:exon7:c.A710T:p.D237V,PFKL:NM_001002021:exon10:c.A860T:p.D287V 0.079 0.11 0.068 0.0099 0.08 0.11 0.0998 0.1262 0.1223 0.0105 0.1069 0.0983 0.1222 0.1191 0.09 0.1 0.082 0.076 0.082 rs1057037 . . . . . . . . . . . . . 0.212 0.195 T 0.005 0.483 B 0.008 0.517 B 0.000 0.629 D 0.000 0.588 P 1.43 0.360 L -1.4 0.805 T -3.04 0.628 D 0.154 0.184 -0.819 0.540 T 0.012 0.047 T . . . 4.238 0.568 23.9 0.983 0.394 0.990 0.900 D c 0.037 0.163 1.000 0.747 0.707 0.730 0 4.64 0.572 9.007 0.931 1.140 0.893 1.000 0.715 0.721 0.314 13.080 0.583 Phosphofructokinase domain ENSG00000141959.12 Esophagus_Mucosa 0.0751 0.1023 0.0723 0.0758 0.0074 0.0692 0.0770 0.0807 0.0999 0.0807 0.1071 0.0656 0.0993 0.0043 0.0757 0.0757 0.0746 het 184.86 19 21 45733867 . A T 184.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.530;DP=19;Dels=0.00;FS=1.957;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.442;QD=9.73;ReadPosRankSum=0.265;VQSLOD=5.6154;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,9:19:99:215,0,220 21 45750145 45750145 T C exonic C21orf2 nonsynonymous SNV C21orf2:NM_001271440:exon7:c.A704G:p.Q235R,C21orf2:NM_001271441:exon7:c.A1064G:p.Q355R,C21orf2:NM_004928:exon7:c.A707G:p.Q236R,C21orf2:NM_001271442:exon8:c.A581G:p.Q194R 0.086 0.035 0.17 0.03 0.12 0.12 0.1562 0.0734 0.2420 0.0411 0.2002 0.1711 0.1273 0.1385 0.088 0.044 0.11 0.087 0.049 rs11552066 . . Benign not_specified RCV000242692.1 MedGen CN169374 . . . . . . 0.298 0.351 T 0.004 0.161 B 0.004 0.112 B 0.107 0.196 N 0.997 0.229 P 0.975 0.246 L 1.56 0.407 T -1.58 0.381 N 0.023 0.022 -1.028 0.211 T 0.001 0.004 T . . . 0.165 0.110 4.305 0.874 0.167 0.868 0.459 D c -0.867 -0.805 1.000 0.427 0.635 0.413 0 2.77 0.315 3.066 0.494 0.068 0.175 0.999 0.424 0.123 0.197 7.357 0.257 . ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11|ENSG00000184441.4|ENSG00000160226.11|ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11|ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11|ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11|ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11|ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11|ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11|ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11|ENSG00000269430.1|ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11|ENSG00000160226.11|ENSG00000184441.4|ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11|ENSG00000184441.4|ENSG00000241728.1|ENSG00000160226.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.1055 0.0466 0.1512 0.0847 0.0241 0.1071 0.1120 0.1151 0.1099 0.0889 0.0555 0.1575 0.1060 0.0216 0.1142 0.1048 0.1010 het 262.35 28 21 45750145 . T C 262.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DP=28;Dels=0.00;FS=1.657;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.138;QD=9.37;ReadPosRankSum=-0.415;VQSLOD=5.5250;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,13:28:99:292,0,465 21 45844751 45844751 A G exonic TRPM2 nonsynonymous SNV TRPM2:NM_001320351:exon24:c.A3566G:p.Q1189R,TRPM2:NM_003307:exon24:c.A3566G:p.Q1189R,TRPM2:NM_001320350:exon25:c.A3716G:p.Q1239R 0.95 0.91 0.91 0.96 1. 0.97 0.9770 0.9319 0.8921 0.9580 0.9871 0.9990 0.9835 0.9800 0.98 0.94 1. 0.92 0.77 rs9978351 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.698 0.101 N 1 0.090 P -2.19 0.001 N 1.59 0.739 T 0.71 0.021 N 0.044 0.024 -1.011 0.266 T 0.000 0.000 T . . . -1.457 0.018 0.003 0.672 0.081 0.016 0.052 N c -1.499 -1.479 1.000 0.517 0.615 0.372 0 -1.31 0.087 0.324 0.192 -0.365 0.067 0.003 0.159 0.028 0.145 4.636 0.118 . ENSG00000142185.12 Whole_Blood 0.9746 0.9299 0.9017 0.9992 0.9572 0.9877 0.9993 0.9851 0.9799 0.9752 0.9361 0.9281 1 0.9499 0.9905 0.9983 0.9878 hom 350.11 14 21 45844751 . A G 350.11 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.28;MQ0=0;QD=25.01;VQSLOD=7.9456;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:33.07:383,33,0 21 45978499 45978499 T G exonic KRTAP10-3 nonsynonymous SNV KRTAP10-3:NM_198696:exon1:c.A100C:p.T34P 0.87 0.89 0.86 0.75 0.96 0.88 0.9201 0.8768 0.8927 0.7296 0.9460 0.9550 0.9294 0.9118 0.93 0.88 0.95 0.73 0.76 rs377549 COSM4134990 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.118 0.358 P -2.52 0.001 N 3.49 0.051 T 6.62 0.000 N 0.084 0.078 -1.016 0.249 T 0.000 0.000 T . . . -1.416 0.019 0.003 0.763 0.110 0.002 0.012 N c -1.305 -1.165 0.000 0.066 0.497 0.185 0 1.18 0.200 0.193 0.168 0.072 0.180 0.109 0.228 0.238 0.225 1.534 0.024 . . . 0.9195 0.8772 0.8917 0.9017 0.7379 0.9521 0.9583 0.9259 0.9130 0.9142 0.8698 0.8868 0.9078 0.7196 0.9449 0.9536 0.9357 hom 2991.31 101 21 45978499 . T G 2991.31 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.3302;MQ=49.52;MQ0=1;QD=29.62;VQSLOD=3.1935;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,100:101:99:3024,238,0 21 45978503 45978503 G A exonic KRTAP10-3 synonymous SNV KRTAP10-3:NM_198696:exon1:c.C96T:p.C32C 0.87 0.88 0.85 0.75 0.96 0.88 0.9194 0.8710 0.8926 0.7294 0.9460 0.9549 0.9284 0.9115 0.93 0.88 0.95 0.66 0.75 rs435424 COSM4134991 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9175 0.8622 0.8902 0.9019 0.7370 0.9509 0.9575 0.9240 0.9108 0.9051 0.8533 0.8744 0.9 0.7176 0.9354 0.9481 0.9302 hom 2652.34 97 21 45978503 . G A 2652.34 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3274;MQ=50.86;MQ0=1;QD=27.34;VQSLOD=2.9394;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,95:97:99:2685,226,0 21 46011468 46011468 G A exonic KRTAP10-6 nonsynonymous SNV KRTAP10-6:NM_198688:exon1:c.C898T:p.P300S 0.5 0.24 0.63 0.44 0.73 0.6 0.6373 0.2919 0.7153 0.4312 0.7438 0.6938 0.6773 0.6348 0.56 0.3 0.7 0.054 0.7 rs465279 COSM4134998 1(bone);2(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6475 0.2864 0.7134 0.6334 0.4253 0.7479 0.6952 0.6699 0.6348 0.5572 0.2943 0.6833 0.5799 0.4251 0.7011 0.6838 0.6508 hom 7537.59 250 21 46011468 . G A 7537.59 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6617;MQ=52.90;MQ0=4;QD=30.15;VQSLOD=3.3365;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,247:250:99:7536,650,0 21 46021205 46021205 C T exonic KRTAP10-7 synonymous SNV KRTAP10-7:NM_198689:exon2:c.C669T:p.P223P 0.78 0.54 0.91 0.82 0.94 0.78 0.8803 0.5871 0.9474 0.8069 0.9435 0.9294 0.8954 0.8302 0.82 0.6 0.94 . . rs389167 COSM4135015;COSM4135014 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7406 0.5218 0.8767 0.8171 0.7202 0.8649 0.8390 0.8140 hom 8039.11 250 21 46021205 . C T 8039.11 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7231;MQ=48.80;MQ0=5;QD=32.16;VQSLOD=3.4466;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,246:250:99:8036,679,0 21 46021607 46021607 A G exonic KRTAP10-7 synonymous SNV KRTAP10-7:NM_198689:exon2:c.A1071G:p.P357P 0.78 0.54 0.92 0.83 0.94 0.78 0.8818 0.5870 0.9475 0.8066 0.9435 0.9297 0.8953 0.8301 0.83 0.61 0.94 0.4 . rs370092 COSM4135020;COSM4135021 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8904 0.5812 0.9419 0.8944 0.8056 0.9478 0.9341 0.9048 0.8323 0.8283 0.5879 0.9260 0.8841 0.7949 0.9398 0.9341 0.9031 hom 2996.67 101 21 46021607 . A G 2996.67 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0567;MQ=56.53;MQ0=0;QD=29.67;VQSLOD=3.7615;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,99:101:99:3030,247,0 21 46032094 46032094 A G exonic KRTAP10-8 nonsynonymous SNV KRTAP10-8:NM_198695:exon1:c.A77G:p.H26R 0.9 0.94 0.95 0.82 0.95 0.85 0.9238 0.9375 0.9651 0.8096 0.9427 0.9396 0.9273 0.8744 0.94 0.94 0.94 0.83 0.94 rs411254 COSM4135022 2(thyroid) . . . . . . . . . . . 0.165 0.232 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 4.08 0.030 T -1.58 0.381 N 0.029 0.010 -1.042 0.168 T 0.000 0.000 T . . . -2.202 0.006 0.001 0.561 0.054 0.001 0.005 N c -1.746 -1.800 0.095 0.162 0.581 0.326 0 -4.73 0.030 -1.683 0.020 -1.095 0.019 0.000 0.063 0.001 0.043 11.434 0.491 . ENSG00000188155.8 Testis 0.9262 0.9379 0.9627 0.9094 0.8087 0.9473 0.9425 0.9323 0.8763 0.9322 0.9373 0.9436 0.9040 0.7975 0.9390 0.9422 0.9318 hom 6856.53 221 21 46032094 . A G 6856.53 Mask AC=2;AF=1.00;AN=2;DP=221;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5998;MQ=59.68;MQ0=0;QD=31.03;VQSLOD=8.4254;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:6855,572,0 21 46047633 46047633 A G exonic KRTAP10-9 nonsynonymous SNV KRTAP10-9:NM_198690:exon1:c.A545G:p.Y182C 0.64 0.52 0.68 0.67 0.72 0.65 0.6687 0.5320 0.7303 0.6568 0.7153 0.6838 0.6641 0.6382 0.63 0.53 0.68 0.065 0.61 rs8127342 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 0.999 0.215 P -4.2 0.000 N 5.72 0.008 T 6.13 0.000 N 0.042 0.022 -0.979 0.353 T 0.000 0.000 T . . . -1.413 0.019 0.003 0.715 0.093 0.002 0.012 N c -1.691 -1.537 0.006 0.110 0.560 0.301 0 1.28 0.206 -0.248 0.088 0.037 0.153 0.001 0.137 0.003 0.074 6.709 0.223 . . . 0.6743 0.5257 0.7385 0.6962 0.6529 0.7130 0.6789 0.6751 0.6380 0.6380 0.5269 0.7170 0.7 0.6660 0.7060 0.6740 0.6992 het 4501.69 250 21 46047633 . A G 4501.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.222;DP=250;DS;Dels=0.00;FS=1.539;HRun=0;HaplotypeScore=4.4217;MQ=58.51;MQ0=0;MQRankSum=0.066;QD=18.01;ReadPosRankSum=0.557;VQSLOD=4.0790;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,124:250:99:3769,0,3501 21 46047710 46047710 T C exonic KRTAP10-9 synonymous SNV KRTAP10-9:NM_198690:exon1:c.T622C:p.L208L 0.65 0.57 0.68 0.66 0.71 0.65 0.6700 0.5745 0.7271 0.6572 0.7154 0.6803 0.6652 0.6377 0.64 0.57 0.67 0.12 0.6 rs8131142 COSM5022100 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6749 0.5694 0.7359 0.6946 0.6528 0.7127 0.6754 0.6728 0.6375 0.6473 0.5687 0.7148 0.6987 0.6598 0.7056 0.6701 0.6936 het 4166.76 249 21 46047710 . T C 4166.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.078;DP=249;DS;Dels=0.00;FS=5.320;HRun=0;HaplotypeScore=2.5239;MQ=59.09;MQ0=0;MQRankSum=0.389;QD=16.73;ReadPosRankSum=-0.587;VQSLOD=4.5764;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:128,121:249:99:3456,0,3822 21 46057548 46057548 A C exonic KRTAP10-10 nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.A214C:p.T72P 0.78 0.87 0.75 0.68 0.77 0.78 0.7504 0.8581 0.7774 0.6727 0.7699 0.7367 0.7412 0.7526 0.77 0.86 0.72 0.69 0.69 rs4818947 COSM5022102 1(bone) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -2.685 0.000 N 5.48 0.010 T 4.45 0.000 N 0.088 0.084 -1.061 0.115 T 0.000 0.000 T . . . -1.594 0.015 0.002 0.313 0.017 0.001 0.006 N c -1.697 -1.581 0.222 0.184 0.581 0.326 0 2.32 0.278 -0.952 0.040 -2.489 0.003 0.000 0.063 0.000 0.016 4.095 0.094 . . . 0.7485 0.8622 0.7802 0.7930 0.6694 0.7645 0.7273 0.7542 0.7521 0.7668 0.8593 0.7780 0.7781 0.6828 0.7637 0.7223 0.7598 het 4217.04 249 21 46057548 . A C 4217.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.497;DP=249;DS;Dels=0.00;FS=1.156;HRun=4;HaplotypeScore=3.6090;MQ=58.37;MQ0=0;MQRankSum=-0.868;QD=16.94;ReadPosRankSum=-0.146;VQSLOD=4.1065;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,125:249:99:3554,0,3318 21 46057711 46057711 G C exonic KRTAP10-10 nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.G377C:p.C126S 0.28 0.48 0.22 0.053 0.24 0.3 0.2571 0.4479 0.2469 0.0520 0.2433 0.2561 0.2258 0.2653 0.32 0.45 0.25 0.17 0.32 rs4818948 COSM1130521 1(prostate) . . . . . . . . . . . 0.04 0.421 D 0.157 0.266 B 0.114 0.302 B . . . 0.000 0.588 P 3.7 0.947 H 4.88 0.015 T -7.23 0.943 D 0.187 0.228 -1.018 0.245 T 0.000 0.000 T . . . -0.002 0.093 2.567 0.906 0.192 0.447 0.271 N c -0.475 -0.550 0.038 0.144 0.609 0.351 0 2.19 0.268 2.067 0.408 -0.026 0.128 0.832 0.299 0.278 0.233 4.961 0.133 . . . 0.2501 0.4487 0.2409 0.2420 0.0524 0.2402 0.2563 0.2499 0.2610 0.2824 0.4295 0.2464 0.2233 0.0557 0.2290 0.2412 0.2516 het 3070.86 249 21 46057711 . G C 3070.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.667;DP=249;DS;Dels=0.00;FS=1.586;HRun=1;HaplotypeScore=8.6462;MQ=57.31;MQ0=0;MQRankSum=-1.855;QD=12.33;ReadPosRankSum=-0.260;VQSLOD=2.3190;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,110:249:99:3101,0,4298 21 46057720 46057720 A C exonic KRTAP10-10 nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.A386C:p.Q129P 0.28 0.48 0.22 0.053 0.24 0.32 0.2588 0.4447 0.2472 0.0520 0.2433 0.2561 0.2269 0.2783 0.32 0.45 0.25 0.17 0.32 rs4818949 COSM4135028 1(thyroid) . . . . . . . . . . . 0.469 0.085 T 0.012 0.151 B 0.01 0.139 B . . . 0.000 0.588 P 1.8 0.476 L 5.24 0.012 T -3.59 0.692 D 0.12 0.134 -1.038 0.180 T 0.000 0.000 T . . . 0.319 0.125 5.876 0.953 0.261 0.033 0.083 N c -0.825 -0.841 0.017 0.129 0.609 0.351 0 -0.050 0.131 -0.873 0.043 0.004 0.136 0.000 0.063 0.410 0.256 4.401 0.107 . . . 0.2514 0.4480 0.2405 0.2415 0.0523 0.2404 0.2563 0.2503 0.2720 0.2837 0.4315 0.2464 0.2215 0.0553 0.2296 0.2425 0.2531 het 2932.53 250 21 46057720 . A C 2932.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.287;DP=250;DS;Dels=0.00;FS=1.572;HRun=1;HaplotypeScore=4.0213;MQ=57.88;MQ0=0;MQRankSum=0.115;QD=11.73;ReadPosRankSum=-0.353;VQSLOD=4.4495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,110:250:99:2963,0,4295 21 46057806 46057806 G A exonic KRTAP10-10 nonsynonymous SNV KRTAP10-10:NM_181688:exon1:c.G472A:p.V158M 0.6 0.43 0.67 0.67 0.69 0.63 0.6514 0.4602 0.7191 0.6644 0.6695 0.6732 0.6399 0.6225 0.6 0.47 0.67 0.45 0.61 rs4818950 COSM3758936 1(bone);1(large_intestine) . . . . . . . . . . . 0.073 0.348 T 0.642 0.385 P 0.574 0.482 P . . . 1 0.090 P 2.98 0.858 M 4.92 0.014 T -1.44 0.354 N 0.036 0.016 -1.089 0.057 T 0.000 0.000 T . . . 1.497 0.242 13.30 0.923 0.210 0.001 0.006 N c -0.696 -0.915 0.000 0.041 0.560 0.301 0 -0.278 0.122 -0.090 0.110 -0.206 0.101 0.000 0.063 0.001 0.043 3.081 0.058 . . . 0.6576 0.4596 0.7277 0.6668 0.6629 0.6664 0.6693 0.6584 0.6243 0.6118 0.4721 0.7074 0.67 0.6696 0.6644 0.6634 0.6779 het 2995.03 250 21 46057806 . G A 2995.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.974;DP=250;DS;Dels=0.00;FS=11.462;HRun=0;HaplotypeScore=3.8090;MQ=57.91;MQ0=0;MQRankSum=0.641;QD=11.98;ReadPosRankSum=0.660;VQSLOD=3.9902;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:138,112:250:99:3025,0,4219 21 46067180 46067180 C T exonic KRTAP10-11 nonsynonymous SNV KRTAP10-11:NM_198692:exon1:c.C805T:p.R269C 0.82 0.99 0.8 0.68 0.81 0.75 0.7801 0.9604 0.7867 0.6479 0.8106 0.7813 0.7544 0.7195 0.84 0.96 0.78 0.64 0.68 rs462007 COSM3758937 1(large_intestine) . . . . . . . . . . . 0.038 0.427 D 1.0 0.899 D 0.895 0.617 P . . . 0.001 0.473 P 2.81 0.821 M 5.85 0.007 T -4.82 0.808 D 0.125 0.141 -0.939 0.428 T 0.000 0.000 T . . . 3.972 0.534 23.6 0.988 0.464 0.071 0.130 N c -0.564 -0.759 0.995 0.340 0.616 0.391 0 3.04 0.340 -2.274 0.012 -1.892 0.006 0.000 0.063 0.002 0.062 6.258 0.200 . . . 0.7804 0.9641 0.8009 0.7823 0.6439 0.8161 0.7797 0.7763 0.7205 0.8219 0.9565 0.7835 0.7748 0.6578 0.8260 0.7657 0.7822 het 2139.08 185 21 46067180 . C T 2139.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.816;DP=185;Dels=0.00;FS=1.323;HRun=0;HaplotypeScore=1.8245;MQ=58.21;MQ0=0;MQRankSum=1.186;QD=11.56;ReadPosRankSum=-0.516;VQSLOD=5.0318;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:101,84:185:99:2169,0,2586 21 46074202 46074202 A G exonic KRTAP12-4 synonymous SNV KRTAP12-4:NM_198698:exon1:c.T330C:p.T110T 0.79 0.92 0.75 0.65 0.76 0.8 0.7453 0.8923 0.7749 0.6361 0.7610 0.7255 0.7364 0.7697 0.77 0.9 0.71 0.65 0.22 rs9984726 COSM4135031 1(bone);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7423 0.8927 0.7783 0.7871 0.6322 0.7557 0.7137 0.7479 0.7683 0.7623 0.8899 0.7715 0.7767 0.6433 0.7513 0.7038 0.7413 het 545.47 66 21 46074202 . A G 545.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.095;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6324;MQ=59.05;MQ0=0;MQRankSum=0.579;QD=8.26;ReadPosRankSum=0.740;VQSLOD=5.6579;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,23:66:99:575,0,1202 21 46077946 46077946 A G exonic KRTAP12-3 nonsynonymous SNV KRTAP12-3:NM_198697:exon1:c.A50G:p.H17R 0.79 0.92 0.75 0.66 0.76 0.8 0.7466 0.8920 0.7758 0.6582 0.7617 0.7243 0.7384 0.7701 0.77 0.89 0.71 0.73 0.64 rs9306111 COSM3722325 1(bone);2(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.192 0.210 T 0.0 0.026 B 0.0 0.013 B . . . 0.921 0.273 P . . . 5.03 0.013 T 0.07 0.061 N 0.03 0.011 -1.071 0.093 T 0.000 0.000 T . . . -1.367 0.020 0.004 0.623 0.067 0.017 0.054 N c -1.356 -1.357 1.000 0.500 0.487 0.133 0 3.03 0.339 -0.593 0.058 -0.626 0.042 0.000 0.063 0.008 0.104 3.338 0.066 . . . 0.7442 0.8932 0.7785 0.7874 0.6555 0.7560 0.7139 0.7488 0.7691 0.7633 0.8896 0.7715 0.7781 0.6607 0.7511 0.7042 0.7423 het 2295.41 206 21 46077946 . A G 2295.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.117;DP=206;Dels=0.00;FS=1.810;HRun=0;HaplotypeScore=6.4120;MQ=59.59;MQ0=0;MQRankSum=0.269;QD=11.14;ReadPosRankSum=-0.207;VQSLOD=4.1058;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:111,95:206:99:2325,0,3159 21 46086407 46086407 C T exonic KRTAP12-2 nonsynonymous SNV KRTAP12-2:NM_181684:exon1:c.G397A:p.V133I 0.15 0.095 0.17 0.092 0.21 0.19 0.1938 0.1020 0.2102 0.0959 0.2140 0.2151 0.1890 0.1955 0.17 0.093 0.2 0.087 0.21 rs12481809 . . . . . . . . . . . . . 0.063 0.367 T 0.262 0.298 B 0.044 0.230 B . . . 1.000 0.090 P 1.15 0.294 L 4.21 0.027 T 0.46 0.031 N 0.014 0.002 -0.917 0.460 T 0.000 0.000 T . . . 0.593 0.151 8.110 0.903 0.190 0.024 0.067 N c -1.033 -1.093 0.000 0.068 0.487 0.133 0 1.54 0.222 0.310 0.190 -0.563 0.046 0.741 0.288 0.001 0.043 5.772 0.174 . . . 0.1908 0.0998 0.2096 0.1852 0.0954 0.2109 0.2145 0.1898 0.1720 0.1698 0.1013 0.1986 0.1854 0.0977 0.2111 0.2039 0.2020 het 1591.22 125 21 46086407 . C T 1591.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.033;DP=125;Dels=0.00;FS=8.506;HRun=0;HaplotypeScore=5.0686;MQ=57.69;MQ0=0;MQRankSum=1.848;QD=12.73;ReadPosRankSum=1.758;VQSLOD=3.1774;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,64:125:99:1621,0,1570 21 46086457 46086457 G A exonic KRTAP12-2 nonsynonymous SNV KRTAP12-2:NM_181684:exon1:c.C347T:p.A116V 0.14 0.088 0.17 0.092 0.21 0.19 0.1899 0.0970 0.2094 0.0957 0.2142 0.2136 0.1801 0.1754 0.17 0.089 0.2 0.076 0.23 rs12483730 COSM4004825 1(urinary_tract) . . . . . . . . . . . 0.688 0.043 T 0.006 0.126 B 0.001 0.040 B . . . 0.231 0.341 P -1.585 0.004 N 4.1 0.030 T 1.83 0.005 N 0.04 0.020 -0.934 0.436 T 0.000 0.000 T . . . 0.470 0.139 7.201 0.607 0.064 0.003 0.014 N c -1.484 -1.450 0.000 0.064 0.487 0.133 0 0.394 0.155 0.515 0.223 -0.056 0.122 0.001 0.137 0.002 0.062 4.421 0.108 . . . 0.1913 0.0954 0.2094 0.1864 0.0953 0.2122 0.2151 0.1918 0.1734 0.1688 0.0975 0.1966 0.1854 0.0977 0.2115 0.2041 0.2018 het 1613.74 136 21 46086457 . G A 1613.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.766;DP=136;Dels=0.00;FS=4.363;HRun=0;HaplotypeScore=4.4645;MQ=58.44;MQ0=0;MQRankSum=0.736;QD=11.87;ReadPosRankSum=0.083;VQSLOD=4.9607;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:68,67:136:99:1644,0,1733 21 46086757 46086757 G A exonic KRTAP12-2 nonsynonymous SNV KRTAP12-2:NM_181684:exon1:c.C47T:p.A16V 0.77 0.86 0.75 0.66 0.76 0.79 0.7390 0.8413 0.7663 0.6487 0.7587 0.7216 0.7348 0.7685 0.75 0.84 0.71 . 0.55 rs7275298 COSM4135036 1(thyroid) . . . . . . . . . . . 0.297 0.146 T 0.002 0.090 B 0.003 0.080 B . . . 1 0.090 P -1.115 0.009 N 4.06 0.031 T 0.88 0.017 N 0.04 0.020 -1.071 0.092 T 0.000 0.000 T . . . -0.016 0.092 2.436 0.812 0.131 0.012 0.042 N c -1.991 -2.010 0.782 0.238 0.487 0.133 0 -4.35 0.034 -0.306 0.082 -1.004 0.022 0.000 0.063 0.000 0.016 6.439 0.209 . . . 0.7390 0.8429 0.7739 0.7787 0.6494 0.7553 0.7130 0.7448 0.7680 0.7490 0.8449 0.7710 0.7633 0.6555 0.7503 0.7022 0.7362 het 761.46 66 21 46086757 . G A 761.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.500;DP=66;Dels=0.00;FS=1.233;HRun=0;HaplotypeScore=3.7467;MQ=57.94;MQ0=0;MQRankSum=0.868;QD=11.54;ReadPosRankSum=0.652;VQSLOD=4.5932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,30:66:99:791,0,981 21 46086758 46086758 C T exonic KRTAP12-2 nonsynonymous SNV KRTAP12-2:NM_181684:exon1:c.G46A:p.A16T 0.77 0.86 0.75 0.66 0.76 0.79 0.7386 0.8412 0.7665 0.6478 0.7586 0.7217 0.7348 0.7662 0.75 0.84 0.7 . 0.55 rs13046903 COSM4135037 1(thyroid) . . . . . . . . . . . 0.344 0.125 T 0.002 0.090 B 0.005 0.104 B . . . 1 0.090 P -0.115 0.046 N 4.08 0.030 T 0.15 0.053 N 0.011 0.001 -1.102 0.038 T 0.000 0.000 T . . . 0.553 0.147 7.826 0.753 0.107 0.013 0.045 N c -1.928 -1.920 0.126 0.170 0.487 0.133 0 -0.954 0.098 -5.302 0.002 -5.224 0.000 0.000 0.063 0.000 0.016 9.965 0.407 . . . 0.7387 0.8428 0.7740 0.7786 0.6491 0.7553 0.7130 0.7448 0.7658 0.7490 0.8447 0.7710 0.7633 0.6555 0.7503 0.7023 0.7362 het 815 65 21 46086758 . C T 815 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.736;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7467;MQ=57.91;MQ0=0;MQRankSum=0.736;QD=12.54;ReadPosRankSum=0.791;VQSLOD=4.5457;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,31:65:99:845,0,800 21 46101939 46101939 C T exonic KRTAP12-1 nonsynonymous SNV KRTAP12-1:NM_181686:exon1:c.G100A:p.V34M 0.12 0.095 0.12 0.081 0.15 0.18 0.1463 0.0941 0.1237 0.0856 0.1592 0.1622 0.1444 0.1557 0.14 0.088 0.16 0.087 0.18 rs9984476 COSM4002058 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.105 0.298 T 0.932 0.500 P 0.36 0.414 B . . . 1 0.090 P . . . 4.95 0.014 T -0.83 0.227 N 0.029 0.010 -0.877 0.500 T 0.000 0.000 T . . . 2.580 0.371 19.98 0.996 0.745 0.010 0.037 N c -0.747 -0.986 0.005 0.110 0.497 0.185 0 -1.71 0.077 -0.924 0.041 0.009 0.139 0.000 0.063 0.022 0.137 6.365 0.205 . . . 0.1465 0.0936 0.1244 0.1517 0.0866 0.1579 0.1648 0.1450 0.1540 0.1352 0.0964 0.1304 0.1589 0.0906 0.1597 0.1558 0.1472 het 2438.38 168 21 46101939 . C T 2438.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.046;DP=168;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=5.7432;MQ=59.09;MQ0=0;MQRankSum=0.322;QD=14.51;ReadPosRankSum=0.639;VQSLOD=4.5382;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,85:168:99:2468,0,2045 21 46102015 46102015 C T exonic KRTAP12-1 synonymous SNV KRTAP12-1:NM_181686:exon1:c.G24A:p.S8S 0.15 0.18 0.12 0.081 0.15 0.18 0.1533 0.1734 0.1258 0.0853 0.1593 0.1625 0.1505 0.1568 0.16 0.16 0.16 0.12 0.16 rs7283084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1516 0.1725 0.1266 0.1526 0.0865 0.1578 0.1647 0.1459 0.1541 0.1564 0.1702 0.1360 0.1623 0.0890 0.1601 0.1562 0.1516 het 1448.75 107 21 46102015 . C T 1448.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.302;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7010;MQ=58.05;MQ0=1;MQRankSum=1.331;QD=13.54;ReadPosRankSum=-0.093;VQSLOD=5.3533;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,56:107:99:1479,0,1236 21 46314907 46314907 T A exonic ITGB2 nonsynonymous SNV ITGB2:NM_000211:exon9:c.A1062T:p.Q354H,ITGB2:NM_001127491:exon9:c.A1062T:p.Q354H,ITGB2:NM_001303238:exon9:c.A855T:p.Q285H 1. 1. 1. 1. 1. 1. 0.9999 1 1 1 1 0.9999 1 1 1. 1. 1. 1. 1. rs235330 COSM4135040 1(thyroid) not provided|Benign Leukocyte_adhesion_deficiency_type_1|Leukocyte_adhesion_deficiency RCV000087107.1|RCV000405921.1 MedGen:OMIM|MedGen C1861766:116920|C0272187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 1 1 1 1 0.9999 1 1 0.9998 1 1 1 1 1 0.9997 0.9990 hom 3453 113 21 46314907 . T A 3453 Mask AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.61;MQ0=0;QD=30.56;VQSLOD=8.4907;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,113:113:99:3452,277,0 21 46320313 46320313 C T exonic ITGB2 synonymous SNV ITGB2:NM_000211:exon7:c.G819A:p.G273G,ITGB2:NM_001127491:exon7:c.G819A:p.G273G,ITGB2:NM_001303238:exon7:c.G612A:p.G204G 0.22 0.18 0.27 0.16 0.22 0.31 0.2428 0.1686 0.3717 0.1376 0.1734 0.2404 0.2223 0.2932 0.22 0.17 0.24 0.21 0.29 rs2230528 . . not provided|Benign|Benign Leukocyte_adhesion_deficiency_type_1|Leukocyte_adhesion_deficiency|not_specified RCV000087125.1|RCV000354913.1|RCV000454782.1 MedGen:OMIM|MedGen|MedGen C1861766:116920|C0272187|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2468 0.1666 0.3679 0.2567 0.1376 0.1712 0.2376 0.2535 0.2992 0.2110 0.1717 0.3218 0.2417 0.1458 0.1630 0.2441 0.2290 het 1652.87 107 21 46320313 . C T 1652.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.570;DP=107;Dels=0.00;FS=3.752;HRun=2;HaplotypeScore=3.2378;MQ=59.13;MQ0=0;MQRankSum=0.501;QD=15.45;ReadPosRankSum=-0.203;VQSLOD=5.9624;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,57:107:99:1683,0,1334 21 46875564 46875564 T C exonic COL18A1 synonymous SNV COL18A1:NM_030582:exon1:c.T120C:p.H40H,COL18A1:NM_130444:exon1:c.T120C:p.H40H 0.99 1. 0.98 1. 0.97 0.99 0.9705 0.9938 0.9819 0.9999 0.9578 0.9575 0.9721 0.9909 0.97 0.99 0.96 0.98 0.99 rs914230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9703 0.9935 0.9843 0.9634 0.9998 0.9562 0.9564 0.9644 0.9908 0.9678 0.9925 0.9785 0.9801 1 0.9631 0.9510 0.9551 hom 3755.54 122 21 46875564 . T C 3755.54 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6001;MQ=59.61;MQ0=0;QD=30.78;VQSLOD=9.0482;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:122:99:3755,316,0 21 46876083 46876083 A G exonic COL18A1 synonymous SNV COL18A1:NM_030582:exon1:c.A639G:p.P213P,COL18A1:NM_130444:exon1:c.A639G:p.P213P 0.38 0.57 0.3 0.33 0.33 0.27 0.3437 0.5460 0.2698 0.3322 0.3212 0.3359 0.3836 0.3155 0.38 0.5 0.33 0.4 0.44 rs2236451 COSM4004829;COSM4004828 1(urinary_tract) Benign not_specified RCV000245572.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3347 0.5409 0.2654 0.4151 0.3375 0.3198 0.3323 0.3424 0.2973 0.3843 0.5270 0.2691 0.3967 0.3727 0.3307 0.3244 0.3357 hom 1553.07 51 21 46876083 . A G 1553.07 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.09;MQ0=0;QD=30.45;VQSLOD=9.0711;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1586,129,0 21 46908355 46908355 T C exonic COL18A1 synonymous SNV COL18A1:NM_030582:exon17:c.T2460C:p.L820L,COL18A1:NM_130444:exon17:c.T3165C:p.L1055L,COL18A1:NM_130445:exon18:c.T1920C:p.L640L 0.32 0.38 0.31 0.25 0.31 0.32 0.3052 0.3747 0.2528 0.2388 0.3384 0.3057 0.2958 0.3203 0.31 0.35 0.3 0.38 0.22 rs11702425 COSM5829131;COSM3758950;COSM3758951 1(breast);1(thyroid);1(large_intestine) Benign|Benign not_specified|Knobloch_syndrome_1 RCV000249339.1|RCV000342153.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1849409:267750:ORPHA1571 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3031 0.3722 0.2544 0.3289 0.2403 0.3399 0.3030 0.3018 0.3229 0.3220 0.3687 0.2613 0.3233 0.2420 0.3456 0.3022 0.3078 hom 4690.95 145 21 46908355 . T C 4690.95 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5743;MQ=59.22;MQ0=0;QD=32.35;VQSLOD=9.4759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:145:99:4691,358,0 21 47410931 47410931 T C exonic COL6A1 synonymous SNV COL6A1:NM_001848:exon15:c.T1095C:p.G365G 0.54 0.78 0.45 0.33 0.53 0.53 0.5315 0.7506 0.4120 0.3496 0.4897 0.5491 0.4788 0.5221 0.62 0.75 0.56 0.58 0.48 rs1980982 COSM3758956 1(thyroid);1(large_intestine) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000079742.7|RCV000358186.1 MedGen|MedGen CN169374|CN117976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5225 0.7566 0.4264 0.5697 0.3497 0.4915 0.5501 0.5142 0.5168 0.5908 0.7514 0.4248 0.5795 0.3350 0.4862 0.5632 0.5256 hom 1643.31 61 21 47410931 . T C 1643.31 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.62;MQ0=0;QD=26.94;VQSLOD=7.5576;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1676,135,0 21 47423389 47423389 G A exonic COL6A1 nonsynonymous SNV COL6A1:NM_001848:exon35:c.G2549A:p.R850H 0.27 0.42 0.28 0.13 0.27 0.2 0.2888 0.4114 0.3026 0.1570 0.2753 0.3034 0.2583 0.2287 0.34 0.4 0.31 0.32 0.24 rs1053312 COSM3758957 1(haematopoietic_and_lymphoid_tissue);1(lung);2(large_intestine) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000079798.7|RCV000305303.1 MedGen|MedGen CN169374|CN117976 . . . . . . 0.159 0.238 T 0.002 0.090 B 0.002 0.063 B 0.489 0.121 N 0.996 0.230 P 1.555 0.395 L -1.75 0.835 D -1.37 0.340 N 0.056 0.039 -1.025 0.222 T 0.000 0.000 T . . . 3.026 0.424 22.3 0.999 0.940 0.121 0.168 N c -0.712 -0.617 1.000 0.408 0.706 0.609 0 0.709 0.172 -0.118 0.106 -0.418 0.060 0.002 0.151 0.551 0.280 3.456 0.070 von Willebrand factor\x2c type A ENSG00000142156.10|ENSG00000142156.10|ENSG00000142156.10|ENSG00000142156.10|ENSG00000142156.10|ENSG00000142156.10|ENSG00000142156.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Muscle_Skeletal|Nerve_Tibial 0.2831 0.4040 0.2998 0.2289 0.1473 0.2729 0.3064 0.2745 0.2258 0.3151 0.4013 0.2751 0.2233 0.1406 0.2682 0.3026 0.2602 hom 1659.08 52 21 47423389 . G A 1659.08 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.19;MQ0=0;QD=31.91;VQSLOD=9.2267;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1692,141,0 21 47423507 47423507 G A exonic COL6A1 synonymous SNV COL6A1:NM_001848:exon35:c.G2667A:p.A889A 0.27 0.41 0.28 0.14 0.27 0.2 0.2859 0.3974 0.2993 0.1571 0.2740 0.3000 0.2534 0.2284 0.34 0.39 0.31 0.27 0.2 rs71336107 COSM329269 2(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(lung);1(large_intestine) other|Benign not_specified|Collagen_VI-related_myopathy RCV000079801.9|RCV000381032.1 MedGen|MedGen CN169374|CN117976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2818 0.3949 0.2982 0.2284 0.1490 0.2712 0.3053 0.2712 0.2261 0.3137 0.3959 0.2768 0.2285 0.1407 0.2685 0.3023 0.2618 hom 1701.38 58 21 47423507 . G A 1701.38 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=29.33;VQSLOD=8.1610;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1734,138,0 21 47423636 47423636 C T exonic COL6A1 synonymous SNV COL6A1:NM_001848:exon35:c.C2796T:p.S932S 0.26 0.43 0.28 0.13 0.26 0.18 0.2715 0.4036 0.2857 0.1568 0.2496 0.2838 0.2408 0.2036 0.33 0.4 0.29 0.26 0.24 rs1053320 COSM444608 1(large_intestine) Benign|Benign not_specified|Collagen_VI-related_myopathy RCV000079807.7|RCV000374356.1 MedGen|MedGen CN169374|CN117976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2672 0.4052 0.2868 0.2165 0.1483 0.2501 0.2878 0.2528 0.2027 0.3092 0.4058 0.2721 0.2185 0.1393 0.2424 0.2948 0.2485 hom 1775.99 53 21 47423636 . C T 1775.99 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=33.51;VQSLOD=9.2310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1809,144,0 21 47538960 47538960 G A exonic COL6A2 nonsynonymous SNV COL6A2:NM_001849:exon14:c.G1196A:p.S399N,COL6A2:NM_058174:exon14:c.G1196A:p.S399N,COL6A2:NM_058175:exon14:c.G1196A:p.S399N 0.71 0.5 0.88 0.87 0.83 0.55 0.7734 0.5376 0.9068 0.8737 0.8014 0.8194 0.8011 0.5776 0.73 0.54 0.83 0.75 0.72 rs2839110 COSM3758959;COSM3758958;COSM3758960 1(thyroid);1(large_intestine) Benign|Benign|Benign not_specified|Collagen_VI-related_myopathy|Myosclerosis RCV000079842.7|RCV000323060.1|RCV000382221.1 MedGen|MedGen|MedGen:Orphanet CN169374|CN117976|C1611706:ORPHA289380 . . . . . . 0.9 0.029 T 0.0 0.026 B 0.001 0.040 B 0.050 0.231 N 1 0.090 P 0.71 0.187 N -3.24 0.935 D 0.76 0.024 N 0.003 0.024 -0.967 0.378 T 0.000 0.000 T . . . 0.585 0.150 8.055 0.844 0.148 0.016 0.052 N c -1.137 -1.086 0.999 0.371 0.696 0.567 0 0.703 0.172 0.444 0.212 0.202 0.252 0.055 0.214 0.684 0.306 5.873 0.179 . . . 0.7844 0.5312 0.8961 0.7896 0.8682 0.8067 0.8224 0.8173 0.5802 0.7440 0.5433 0.8756 0.8311 0.8610 0.7953 0.8239 0.7904 hom 1437.78 48 21 47538960 . G A 1437.78 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;QD=29.95;VQSLOD=9.1039;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1471,114,0 21 47545768 47545768 G A exonic COL6A2 nonsynonymous SNV COL6A2:NM_001849:exon26:c.G2039A:p.R680H,COL6A2:NM_058174:exon26:c.G2039A:p.R680H,COL6A2:NM_058175:exon26:c.G2039A:p.R680H 0.39 0.21 0.64 0.43 0.51 0.31 0.4784 0.2432 0.6727 0.4363 0.6184 0.5100 0.5221 0.3267 0.41 0.24 0.5 0.35 0.43 rs1042917 COSM3758963;COSM3758961;COSM3758962 1(liver);1(large_intestine) Benign|Benign|Benign not_specified|Myosclerosis|Collagen_VI-related_myopathy RCV000079868.6|RCV000320471.1|RCV000380396.1 MedGen|MedGen:Orphanet|MedGen CN169374|C1611706:ORPHA289380|CN117976 . . . . . . 0.081 0.416 T 1.0 0.899 D 0.982 0.739 D 0.000 0.559 D 0.000 0.530 P 1.485 0.373 L -1.15 0.780 T -0.94 0.255 N 0.179 0.445 -0.854 0.517 T 0.000 0.000 T . . . 5.328 0.721 25.8 0.997 0.825 0.863 0.453 D c 0.445 0.412 1.000 0.747 0.696 0.567 0 4.4 0.522 4.950 0.631 0.998 0.613 1.000 0.715 0.328 0.242 16.994 0.862 von Willebrand factor\x2c type A ENSG00000160282.9 Artery_Tibial 0.4921 0.2392 0.6518 0.5195 0.4402 0.6222 0.5020 0.5274 0.3272 0.4539 0.2523 0.6041 0.5662 0.4476 0.6069 0.5209 0.5205 het 952.32 96 21 47545768 . G A 952.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.855;DP=96;Dels=0.00;FS=0.787;HRun=0;HaplotypeScore=2.6204;MQ=59.52;MQ0=0;MQRankSum=0.686;QD=9.92;ReadPosRankSum=-0.828;VQSLOD=6.1661;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,42:96:99:982,0,1334 21 47545823 47545823 G A exonic COL6A2 synonymous SNV COL6A2:NM_001849:exon26:c.G2094A:p.A698A,COL6A2:NM_058174:exon26:c.G2094A:p.A698A,COL6A2:NM_058175:exon26:c.G2094A:p.A698A 0.39 0.21 0.64 0.43 0.51 0.31 0.4755 0.2434 0.6698 0.4322 0.6144 0.5063 0.5222 0.3264 0.41 0.24 0.5 0.38 0.43 rs13052956 COSM3758964;COSM3758966;COSM3758965 1(large_intestine) Benign|Benign|Benign not_specified|Collagen_VI-related_myopathy|Myosclerosis RCV000079869.6|RCV000267217.1|RCV000327020.1 MedGen|MedGen|MedGen:Orphanet CN169374|CN117976|C1611706:ORPHA289380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4912 0.2397 0.6518 0.5193 0.4395 0.6200 0.5008 0.5259 0.3271 0.4516 0.2511 0.6031 0.5667 0.4444 0.6043 0.5184 0.5155 het 1360.36 100 21 47545823 . G A 1360.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.151;DP=100;Dels=0.00;FS=7.963;HRun=0;HaplotypeScore=3.6643;MQ=59.02;MQ0=0;MQRankSum=0.772;QD=13.60;ReadPosRankSum=-0.207;VQSLOD=4.7090;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,49:100:99:1390,0,1435 21 47545826 47545826 C T exonic COL6A2 synonymous SNV COL6A2:NM_001849:exon26:c.C2097T:p.G699G,COL6A2:NM_058174:exon26:c.C2097T:p.G699G,COL6A2:NM_058175:exon26:c.C2097T:p.G699G 0.39 0.21 0.64 0.43 0.51 0.31 0.4755 0.2430 0.6696 0.4324 0.6140 0.5064 0.5244 0.3264 0.41 0.24 0.5 0.37 0.43 rs13046639 COSM3758969;COSM3758968;COSM3758967 1(liver);1(large_intestine) Benign|Benign|Benign not_specified|Collagen_VI-related_myopathy|Myosclerosis RCV000079870.6|RCV000291715.1|RCV000381689.1 MedGen|MedGen|MedGen:Orphanet CN169374|CN117976|C1611706:ORPHA289380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4912 0.2393 0.6517 0.5193 0.4395 0.6200 0.5008 0.5259 0.3271 0.4513 0.2503 0.6031 0.5667 0.4445 0.6044 0.5183 0.5134 het 1278.97 100 21 47545826 . C T 1278.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.486;DP=100;Dels=0.00;FS=8.103;HRun=0;HaplotypeScore=3.5407;MQ=59.02;MQ0=0;MQRankSum=-1.228;QD=12.79;ReadPosRankSum=0.052;VQSLOD=3.7592;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,49:100:99:1309,0,1372 21 47552385 47552385 C T exonic COL6A2 synonymous SNV COL6A2:NM_001849:exon28:c.C2979T:p.R993R 0.092 0.089 0.075 0.029 0.2 0.067 0.1373 0.1161 0.0647 0.0268 0.0753 0.1882 0.1436 0.0799 0.17 0.11 0.2 0.043 0.21 rs6652 COSM3721324 1(upper_aerodigestive_tract);1(large_intestine) Benign|Benign|Benign|Likely benign not_specified|Myosclerosis|Collagen_VI-related_myopathy|GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY RCV000079889.7|RCV000335530.1|RCV000373863.1|RCV000404594.1 MedGen|MedGen:Orphanet|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C1611706:ORPHA289380|CN117976|C0268609:229100:ORPHA51208:59761008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1313 0.1085 0.0738 0.1771 0.0244 0.0719 0.1913 0.1357 0.0799 0.1395 0.1101 0.0967 0.1887 0.0222 0.0759 0.1856 0.1398 het 705.04 50 21 47552385 . C T 705.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.187;DP=50;Dels=0.00;FS=6.457;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=0.417;QD=14.10;ReadPosRankSum=0.681;VQSLOD=5.5407;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:20,30:50:99:735,0,500 21 47556882 47556882 G A exonic FTCD nonsynonymous SNV FTCD:NM_001320412:exon14:c.C1625T:p.P542L 0.035 0.034 0.04 0.006 0.091 0.0072 0.0631 0.0543 0.0304 0.0073 0.0369 0.0919 0.0703 0.0160 0.079 0.048 0.095 0.022 . rs79622089 . . Benign not_specified RCV000153274.2 MedGen CN169374 . . . . . . 0.0 0.912 D 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 N . . . -0.72 0.730 T -0.23 0.107 N 0.181 0.221 -1.043 0.165 T 0.003 0.008 T . . . -0.629 0.048 0.106 0.544 0.050 0.028 0.074 N c -1.535 -1.772 1.000 0.489 0.696 0.567 0 -3.34 0.046 -3.992 0.004 -3.033 0.001 0.000 0.063 0.000 0.016 4.692 0.121 . ENSG00000160282.9 Artery_Tibial 0.0597 0.0494 0.0320 0.0882 0.0069 0.0360 0.0928 0.0635 0.0154 0.0680 0.0533 0.0443 0.0960 0.0068 0.0372 0.0917 0.0603 het 340.53 31 21 47556882 . G A 340.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.838;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.25;MQ0=0;MQRankSum=1.290;QD=10.98;ReadPosRankSum=-0.734;VQSLOD=6.0780;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,14:31:99:371,0,479 21 47558552 47558552 G A exonic FTCD nonsynonymous SNV FTCD:NM_001320412:exon12:c.C1313T:p.A438V,FTCD:NM_006657:exon12:c.C1313T:p.A438V,FTCD:NM_206965:exon12:c.C1313T:p.A438V 0.029 0.0068 0.033 0.0069 0.095 0.01 0.0826 0.0308 0.0427 0.0079 0.0824 0.1227 0.0889 0.0220 0.075 0.022 0.1 0.022 0.082 rs61735841 COSM3758976;COSM3758975 4(large_intestine) Benign|Likely benign not_specified|GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY RCV000081447.4|RCV000386329.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268609:229100:ORPHA51208:59761008 . . . . . . 0.197 0.231 T 0.281 0.304 B 0.027 0.261 B 0.023 0.265 N 1 0.810 D 2.86 0.833 M 0.83 0.478 T -1.26 0.318 N 0.142 0.166 -1.152 0.010 T 0.004 0.013 T . . . 1.401 0.232 12.79 0.989 0.484 0.595 0.307 D c -0.554 -0.587 1.000 0.747 0.646 0.450 0 3.47 0.387 1.108 0.305 -0.323 0.076 0.112 0.228 0.000 0.016 9.687 0.391 Cyclodeaminase/cyclohydrolase . . 0.0652 0.0218 0.0344 0.0596 0.0064 0.0549 0.1055 0.0755 0.0187 0.0705 0.0260 0.0537 0.0497 0.0074 0.0596 0.1073 0.0695 het 309.25 22 21 47558552 . G A 309.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DP=22;Dels=0.00;FS=1.808;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;MQRankSum=0.853;QD=14.06;ReadPosRankSum=1.058;VQSLOD=5.4862;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,14:22:99:339,0,193 21 47571511 47571511 G A exonic FTCD;FTCD-AS1 synonymous SNV FTCD-AS1:NM_001350598:exon1:c.G63A:p.A21A,FTCD:NM_001320412:exon5:c.C597T:p.I199I,FTCD:NM_006657:exon5:c.C597T:p.I199I,FTCD:NM_206965:exon5:c.C597T:p.I199I . . . . . . 3.339e-05 0 0 0 0 3.056e-05 0.0011 6.058e-05 . . . . . rs773170658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.076e-05 0 0 0 0 0 2.705e-05 0 0.0002 . . . . . . . . het 1367.10 115 21 47571511 . G A 1367.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.284;DP=115;Dels=0.00;FS=3.504;HRun=1;HaplotypeScore=3.4930;MQ=59.68;MQ0=0;MQRankSum=-0.205;QD=11.89;ReadPosRankSum=0.462;VQSLOD=4.2174;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,54:115:99:1397,0,1488 21 47614469 47614469 A C exonic LSS nonsynonymous SNV LSS:NM_001145437:exon19:c.T1684G:p.L562V,LSS:NM_001001438:exon20:c.T1924G:p.L642V,LSS:NM_001145436:exon20:c.T1891G:p.L631V,LSS:NM_002340:exon20:c.T1924G:p.L642V 0.73 0.93 0.58 0.69 0.68 0.67 0.6750 0.8916 0.5063 0.7106 0.6386 0.6690 0.7022 0.6752 0.74 0.89 0.67 0.81 0.63 rs2254524 COSM444622 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.057 T 0.0 0.026 B 0.0 0.013 B 0.044 0.237 N 1.000 0.189 P -2.79 0.000 N 2.07 0.204 T 2.32 0.005 N 0.039 0.230 -0.995 0.312 T 0.000 0.000 T . . . -1.065 0.030 0.012 0.699 0.088 0.275 0.231 N c -1.247 -1.020 1.000 0.517 0.707 0.730 0 3.26 0.363 1.503 0.351 0.067 0.174 0.757 0.290 0.570 0.283 7.861 0.285 Squalene cyclase\x2c C-terminal|Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000215424.5|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000235878.4|ENSG00000182362.9|ENSG00000160294.6|ENSG00000215424.5|ENSG00000182362.9|ENSG00000160294.6|ENSG00000235878.4|ENSG00000182362.9|ENSG00000235878.4|ENSG00000160285.10|ENSG00000160294.6|ENSG00000215424.5|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000235878.4|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000235878.4|ENSG00000215424.5|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000235878.4|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6607 0.8917 0.5099 0.7262 0.6995 0.6392 0.6617 0.6689 0.6784 0.7205 0.8880 0.5549 0.6987 0.6873 0.6587 0.6529 0.6830 hom 2065.46 64 21 47614469 . A C 2065.46 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9900;MQ=58.69;MQ0=0;QD=32.27;VQSLOD=8.9649;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2098,163,0 21 47635627 47635627 C G exonic LSS synonymous SNV LSS:NM_001145437:exon7:c.G624C:p.P208P,LSS:NM_001001438:exon8:c.G864C:p.P288P,LSS:NM_001145436:exon8:c.G831C:p.P277P,LSS:NM_002340:exon8:c.G864C:p.P288P 0.36 0.47 0.28 0.13 0.42 0.45 0.3763 0.4564 0.2533 0.1353 0.3760 0.4004 0.3995 0.4413 0.41 0.44 0.4 0.29 0.39 rs9980968 COSM3758985 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3604 0.4430 0.2516 0.3596 0.1337 0.3586 0.3962 0.3751 0.4366 0.3840 0.4451 0.2768 0.2933 0.1329 0.3770 0.3842 0.4025 hom 596.63 18 21 47635627 . C G 596.63 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.15;VQSLOD=14.1614;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:630,48,0 21 47703649 47703649 G A exonic MCM3AP synonymous SNV MCM3AP:NM_003906:exon2:c.C1323T:p.N441N 0.27 0.2 0.23 0.16 0.41 0.36 0.3377 0.2095 0.2305 0.1379 0.3147 0.3973 0.3590 0.3654 0.33 0.22 0.39 0.25 0.39 rs11702450 COSM3758989 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3325 0.2081 0.2299 0.3791 0.1396 0.3169 0.3982 0.3534 0.3685 0.3110 0.2153 0.2596 0.3278 0.1335 0.3275 0.3815 0.3585 hom 5525.03 185 21 47703649 . G A 5525.03 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9559;MQ=59.50;MQ0=0;QD=29.87;VQSLOD=6.4304;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,184:185:99:5524,442,0 21 47704896 47704896 G A exonic MCM3AP nonsynonymous SNV MCM3AP:NM_003906:exon1:c.C305T:p.S102L 0.25 0.2 0.23 0.15 0.41 0.27 0.3241 0.2072 0.2294 0.1322 0.2961 0.3962 0.3447 0.2831 0.33 0.21 0.39 0.25 0.39 rs9975588 COSM3736289 1(haematopoietic_and_lymphoid_tissue);1(liver);1(skin);1(large_intestine) Benign not_specified RCV000455832.1 MedGen CN169374 . . . . . . 0.02 0.496 D 0.844 0.447 P 0.313 0.397 B 0.007 0.314 N 0.561 0.312 P 2.28 0.651 M 2.16 0.192 T -1.45 0.356 N 0.137 0.159 -0.909 0.470 T 0.000 0.000 T . . . 5.906 0.810 27.5 0.997 0.836 0.769 0.375 D c 0.299 0.384 1.000 0.747 0.660 0.490 0 4.59 0.561 4.817 0.621 1.048 0.713 1.000 0.715 0.935 0.408 12.426 0.547 Germinal-centre associated nuclear protein\x2c nucleoporin homology domain ENSG00000215424.5|ENSG00000160294.6|ENSG00000215424.5|ENSG00000160294.6|ENSG00000160285.10|ENSG00000160294.6|ENSG00000215424.5|ENSG00000160285.10|ENSG00000160294.6|ENSG00000215424.5|ENSG00000160294.6|ENSG00000160294.6|ENSG00000215424.5|ENSG00000160294.6|ENSG00000215424.5|ENSG00000160285.10|ENSG00000160294.6|ENSG00000223901.1|ENSG00000160294.6|ENSG00000215424.5|ENSG00000160285.10|ENSG00000160294.6|ENSG00000228404.1|ENSG00000160285.10|ENSG00000272283.1|ENSG00000160305.13|ENSG00000182362.9|ENSG00000215424.5|ENSG00000160285.10|ENSG00000160294.6|ENSG00000160305.13|ENSG00000160294.6|ENSG00000160294.6|ENSG00000215424.5|ENSG00000160294.6|ENSG00000215424.5|ENSG00000160294.6|ENSG00000160285.10|ENSG00000182362.9|ENSG00000160285.10|ENSG00000160294.6|ENSG00000160305.13|ENSG00000160299.12|ENSG00000160285.10 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3194 0.2054 0.2292 0.3789 0.1328 0.2982 0.3974 0.3457 0.2874 0.3071 0.2131 0.2578 0.3278 0.1265 0.3101 0.3807 0.3425 hom 1936.48 62 21 47704896 . G A 1936.48 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.23;VQSLOD=13.6722;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1969,156,0 21 47773103 47773103 C A exonic PCNT synonymous SNV PCNT:NM_001315529:exon10:c.C1188A:p.S396S,PCNT:NM_006031:exon10:c.C1542A:p.S514S 0.29 0.21 0.2 0.38 0.34 0.3 0.3201 0.2337 0.2218 0.4264 0.3044 0.3430 0.3311 0.3003 0.3 0.23 0.33 0.3 0.32 rs2249057 COSM1130514 1(haematopoietic_and_lymphoid_tissue);1(prostate);2(thyroid);1(large_intestine) Benign|Benign not_specified|Microcephalic_Osteodysplastic_Primordial_Dwarfism RCV000147090.1|RCV000402281.1 MedGen|MedGen CN169374|CN239360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3135 0.2319 0.2181 0.3291 0.4144 0.3131 0.3388 0.3269 0.3029 0.2965 0.2343 0.2315 0.3245 0.4107 0.3249 0.3149 0.3269 het 1371.79 127 21 47773103 . C A 1371.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.440;DP=127;Dels=0.00;FS=1.449;HRun=0;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;MQRankSum=-1.869;QD=10.80;ReadPosRankSum=-0.328;VQSLOD=5.5849;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,53:127:99:1402,0,1919 21 47777063 47777063 G A exonic PCNT nonsynonymous SNV PCNT:NM_001315529:exon13:c.G1757A:p.G586E,PCNT:NM_006031:exon13:c.G2111A:p.G704E 0.85 0.92 0.82 0.81 0.87 0.79 0.8559 0.9243 0.8349 0.8131 0.8373 0.8741 0.8491 0.7847 0.89 0.93 0.88 0.77 0.82 rs2839223 COSM4135102 1(thyroid) Benign|Benign not_specified|Microcephalic_Osteodysplastic_Primordial_Dwarfism RCV000147093.1|RCV000276066.1 MedGen|MedGen CN169374|CN239360 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -2.39 0.001 N 5.12 0.013 T 4.25 0.000 N 0.03 0.011 -1.024 0.223 T 0.000 0.000 T . . . 0.079 0.101 3.387 0.155 0.004 0.037 0.088 N c -0.904 -0.671 1.000 0.747 0.722 0.854 0 5.03 0.669 3.930 0.560 0.117 0.209 0.999 0.424 0.448 0.262 8.53 0.323 . ENSG00000160307.5|ENSG00000182362.9|ENSG00000235878.4|ENSG00000160299.12|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000239415.1|ENSG00000235878.4|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000235878.4|ENSG00000182362.9|ENSG00000182362.9|ENSG00000235878.4|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000235878.4|ENSG00000160299.12|ENSG00000182362.9|ENSG00000239415.1|ENSG00000235878.4|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000160284.10|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000235878.4|ENSG00000182362.9|ENSG00000239415.1|ENSG00000182362.9|ENSG00000160285.10|ENSG00000239415.1|ENSG00000235878.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.8544 0.9272 0.8355 0.8874 0.8156 0.8375 0.8748 0.8651 0.7860 0.8792 0.9259 0.8496 0.8940 0.8253 0.8457 0.8684 0.8571 hom 3715.11 118 21 47777063 . G A 3715.11 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.48;VQSLOD=14.0284;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3715,292,0 21 47783796 47783796 T C exonic PCNT synonymous SNV PCNT:NM_001315529:exon14:c.T2202C:p.A734A,PCNT:NM_006031:exon14:c.T2556C:p.A852A 0.85 0.92 0.82 0.8 0.87 0.79 0.8548 0.9240 0.8349 0.8152 0.8381 0.8735 0.8497 0.7828 0.89 0.93 0.88 0.77 0.79 rs8131546 COSM444637 1(thyroid);1(large_intestine) Benign|Benign not_specified|Microcephalic_Osteodysplastic_Primordial_Dwarfism RCV000147097.1|RCV000327808.1 MedGen|MedGen CN169374|CN239360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8534 0.9274 0.8355 0.8875 0.8168 0.8376 0.8740 0.8654 0.7831 0.8788 0.9257 0.8496 0.8940 0.8276 0.8454 0.8676 0.8576 hom 4497.36 153 21 47783796 . T C 4497.36 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.76;MQ0=0;QD=29.39;VQSLOD=7.8752;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:4496,370,0 21 47786817 47786817 C G exonic PCNT synonymous SNV PCNT:NM_001315529:exon15:c.C2574G:p.L858L,PCNT:NM_006031:exon15:c.C2928G:p.L976L 0.84 0.89 0.82 0.8 0.87 0.79 0.8527 0.8919 0.8334 0.8139 0.8376 0.8736 0.8480 0.7843 0.88 0.9 0.87 0.76 0.91 rs2839228 COSM1414625 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Microcephalic_Osteodysplastic_Primordial_Dwarfism RCV000147104.2|RCV000335049.1 MedGen|MedGen CN169374|CN239360 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8518 0.8973 0.8339 0.8871 0.8157 0.8375 0.8741 0.8649 0.7849 0.8707 0.8974 0.8473 0.8940 0.8276 0.8456 0.8675 0.8564 hom 6588.38 195 21 47786817 . C G 6588.38 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5939;MQ=59.65;MQ0=0;QD=33.79;VQSLOD=8.8312;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:6588,509,0 21 47787002 47787002 T C exonic PCNT nonsynonymous SNV PCNT:NM_001315529:exon15:c.T2759C:p.V920A,PCNT:NM_006031:exon15:c.T3113C:p.V1038A 0.84 0.89 0.82 0.8 0.87 0.79 0.8530 0.8936 0.8336 0.8144 0.8378 0.8743 0.8463 0.7823 0.88 0.9 0.88 0.77 0.88 rs6518289 COSM4415391 1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Microcephalic_Osteodysplastic_Primordial_Dwarfism RCV000147106.2|RCV000399320.1 MedGen|MedGen CN169374|CN239360 . . . . . . 0.643 0.049 T 0.0 0.026 B 0.0 0.013 B 0.002 0.009 N 1 0.090 P -0.345 0.033 N 4.79 0.016 T -1.06 0.277 N 0.046 0.026 -0.932 0.439 T 0.000 0.000 T . . . -1.778 0.011 0.002 0.348 0.021 0.055 0.112 N c -2.002 -2.071 1.000 0.747 0.707 0.730 0 -9.48 0.005 -0.194 0.095 -1.731 0.007 0.000 0.063 0.000 0.016 2.278 0.038 . ENSG00000160307.5|ENSG00000182362.9|ENSG00000235878.4|ENSG00000160299.12|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000235878.4|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000235878.4|ENSG00000182362.9|ENSG00000182362.9|ENSG00000235878.4|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000235878.4|ENSG00000160299.12|ENSG00000182362.9|ENSG00000239415.1|ENSG00000235878.4|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000235878.4|ENSG00000182362.9|ENSG00000239415.1|ENSG00000235878.4|ENSG00000182362.9|ENSG00000160285.10|ENSG00000235878.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.8519 0.8997 0.8340 0.8875 0.8158 0.8377 0.8747 0.8647 0.7829 0.8716 0.8997 0.8473 0.8940 0.8267 0.8464 0.8680 0.8548 hom 3045.95 100 21 47787002 . T C 3045.95 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;QD=30.46;VQSLOD=8.9642;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3079,268,0 21 47836653 47836653 C T exonic PCNT nonsynonymous SNV PCNT:NM_001315529:exon30:c.C6467T:p.P2156L,PCNT:NM_006031:exon30:c.C6821T:p.P2274L 0.25 0.16 0.17 0.37 0.29 0.26 0.2811 0.1825 0.2074 0.4011 0.2339 0.2965 0.2972 0.2824 0.23 0.16 0.26 0.29 0.2 rs2070425 COSM3759001 1(thyroid);2(large_intestine) Benign|Benign not_specified|Microcephalic_Osteodysplastic_Primordial_Dwarfism RCV000147179.1|RCV000350993.1 MedGen|MedGen CN169374|CN239360 . . . . . . 0.651 0.048 T 0.012 0.151 B 0.005 0.104 B 0.812 0.092 N 1 0.090 P 0 0.065 N 4.91 0.015 T 0.03 0.066 N 0.023 0.006 -1.027 0.213 T 0.000 0.000 T . . . -0.640 0.048 0.100 0.579 0.057 0.078 0.136 N c -1.509 -1.485 0.223 0.184 0.672 0.522 0 -0.651 0.108 0.047 0.138 -0.904 0.026 0.000 0.063 0.001 0.043 4.520 0.113 . ENSG00000160305.13|ENSG00000160294.6|ENSG00000160294.6|ENSG00000160294.6|ENSG00000160305.13|ENSG00000272283.1|ENSG00000160305.13|ENSG00000160294.6|ENSG00000160305.13|ENSG00000182362.9|ENSG00000160310.12|ENSG00000160307.5|ENSG00000160305.13|ENSG00000160299.12 Adipose_Visceral_Omentum|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2687 0.1714 0.1999 0.2958 0.3908 0.2392 0.2903 0.2800 0.2555 0.2436 0.1778 0.2002 0.2914 0.3910 0.2507 0.2647 0.2607 het 754.40 46 21 47836653 . C T 754.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.134;DP=46;Dels=0.00;FS=18.609;HRun=0;HaplotypeScore=2.4551;MQ=60.00;MQ0=0;MQRankSum=1.071;QD=16.40;ReadPosRankSum=-1.071;VQSLOD=2.5775;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,27:46:99:784,0,530 21 47850484 47850484 G C exonic PCNT nonsynonymous SNV PCNT:NM_001315529:exon37:c.G7623C:p.Q2541H,PCNT:NM_006031:exon37:c.G7977C:p.Q2659H 0.49 0.33 0.45 0.61 0.56 0.52 0.5774 0.3809 0.5456 0.6855 0.6018 0.6259 0.6014 0.5400 0.48 0.34 0.56 0.53 0.22 rs2070426 COSM3759003 1(liver);1(thyroid);2(large_intestine) Benign|Benign not_specified|Microcephalic_Osteodysplastic_Primordial_Dwarfism RCV000147219.2|RCV000367854.1 MedGen|MedGen CN169374|CN239360 . . . . . . 0.093 0.315 T 0.001 0.188 B 0.003 0.080 B 0.370 0.135 N 1 0.090 P 0 0.065 N 4.42 0.022 T -1.38 0.342 N 0.063 0.048 -0.919 0.457 T 0.000 0.000 T . . . 2.282 0.335 18.05 0.895 0.183 0.036 0.086 N c -1.458 -1.611 1.000 0.747 0.707 0.730 0 -9.46 0.005 -2.901 0.008 -1.684 0.008 0.000 0.063 0.018 0.130 4.302 0.103 . ENSG00000182362.9|ENSG00000182362.9|ENSG00000160294.6|ENSG00000215424.5|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000182362.9|ENSG00000182362.9|ENSG00000160294.6|ENSG00000235878.4|ENSG00000215424.5|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160305.13|ENSG00000182362.9|ENSG00000182362.9|ENSG00000160294.6|ENSG00000160294.6|ENSG00000215424.5|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000160310.12|ENSG00000160307.5|ENSG00000160305.13|ENSG00000182362.9 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.5255 0.3252 0.4281 0.6482 0.6243 0.5111 0.5579 0.5446 0.5283 0.4841 0.3428 0.4366 0.6333 0.6157 0.5146 0.5415 0.5346 hom 562.13 19 21 47850484 . G C 562.13 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=29.59;VQSLOD=8.8763;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:48.15:595,48,0 21 47851753 47851753 A G exonic PCNT nonsynonymous SNV PCNT:NM_001315529:exon38:c.A8021G:p.Q2674R,PCNT:NM_006031:exon38:c.A8375G:p.Q2792R 0.67 0.83 0.54 0.62 0.65 0.61 0.6397 0.7955 0.4753 0.6478 0.6075 0.6503 0.6589 0.6209 0.69 0.79 0.64 0.77 0.57 rs2073376 COSM4135105 1(thyroid) Benign|Benign not_specified|Microcephalic_Osteodysplastic_Primordial_Dwarfism RCV000147222.4|RCV000329338.1 MedGen|MedGen CN169374|CN239360 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.125 0.189 N 1 0.090 P -1.9 0.002 N 5.0 0.014 T 1.79 0.005 N 0.042 0.022 -1.097 0.044 T 0.000 0.000 T . . . -1.279 0.023 0.005 0.110 0.002 0.024 0.068 N c -1.121 -0.984 1.000 0.417 0.707 0.730 0 2.32 0.278 0.081 0.146 0.138 0.222 0.004 0.165 0.488 0.269 8.706 0.333 . ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000235878.4|ENSG00000182362.9|ENSG00000160294.6|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000235878.4|ENSG00000182362.9|ENSG00000182362.9|ENSG00000160294.6|ENSG00000215424.5|ENSG00000182362.9|ENSG00000160294.6|ENSG00000215424.5|ENSG00000182362.9|ENSG00000160294.6|ENSG00000160294.6|ENSG00000160299.12|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000182362.9|ENSG00000160294.6|ENSG00000215424.5|ENSG00000182362.9|ENSG00000160294.6|ENSG00000215424.5|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000182362.9|ENSG00000160294.6|ENSG00000160310.12|ENSG00000160305.13|ENSG00000182362.9|ENSG00000160294.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.6265 0.7950 0.4813 0.7337 0.6358 0.6150 0.6397 0.6315 0.6211 0.6725 0.7886 0.5096 0.7020 0.6275 0.6234 0.6312 0.6490 hom 1285.64 42 21 47851753 . A G 1285.64 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.61;VQSLOD=14.0221;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1319,111,0 21 47852085 47852085 G A exonic PCNT nonsynonymous SNV PCNT:NM_006031:exon38:c.G8707A:p.A2903T 0.038 0.0091 0.058 0.013 0.082 0.047 0.0635 0.0163 0.0296 0.0160 0.0785 0.0857 0.0769 0.0454 0.06 0.017 0.083 0.022 0.016 rs35147998 COSM5460321 1(large_intestine) Likely benign|Likely benign\x2cBenign not_specified|Microcephalic_Osteodysplastic_Primordial_Dwarfism\x2cnot_specified RCV000147227.1|RCV000336085.1\x2cRCV000147228.1 MedGen|MedGen\x2cMedGen CN169374|CN239360\x2cCN169374 . . . . . . 0.229 0.183 T 0.089 0.235 B 0.019 0.176 B . . . 1 0.090 N 0.69 0.170 N 4.88 0.015 T 0.07 0.061 N 0.033 0.013 -0.881 0.497 T 0.000 0.001 T . . . 2.105 0.314 16.89 0.526 0.047 0.829 0.418 D c -0.940 -0.879 1.000 0.448 0.707 0.730 0 2.0 0.254 5.296 0.653 0.050 0.161 0.995 0.385 0.000 0.016 8.489 0.321 . ENSG00000160305.13|ENSG00000160294.6|ENSG00000160310.12|ENSG00000160307.5|ENSG00000160305.13 Lung|Skin_Sun_Exposed_Lower_leg|Whole_Blood|Whole_Blood|Whole_Blood 0.0612 0.0139 0.0338 0.0893 0.0152 0.0748 0.0826 0.0712 0.0429 0.0605 0.0144 0.0489 0.0662 0.0123 0.0773 0.0886 0.0682 het 704.20 50 21 47852085 . G A 704.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.994;DP=50;Dels=0.00;FS=1.357;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=-0.264;QD=14.08;ReadPosRankSum=-0.909;VQSLOD=6.2220;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,28:50:99:734,0,659 21 47863757 47863757 A C exonic PCNT nonsynonymous SNV PCNT:NM_001315529:exon45:c.A9144C:p.R3048S,PCNT:NM_006031:exon45:c.A9735C:p.R3245S 0.21 0.056 0.14 0.41 0.22 0.24 0.2289 0.0767 0.1743 0.4492 0.2363 0.2327 0.2472 0.2272 0.17 0.081 0.21 0.26 0.17 rs2073380 COSM1751704 1(haematopoietic_and_lymphoid_tissue);2(urinary_tract);1(thyroid);1(large_intestine) Benign|Benign not_specified|Microcephalic_Osteodysplastic_Primordial_Dwarfism RCV000147250.1|RCV000348673.1 MedGen|MedGen CN169374|CN239360 . . . . . . 0.73 0.038 T 0.006 0.144 B 0.009 0.133 B . . . 1 0.090 P 0.69 0.170 N 4.92 0.014 T 0.41 0.034 N 0.039 0.019 -0.978 0.354 T 0.000 0.000 T . . . 1.495 0.242 13.29 0.397 0.027 0.061 0.119 N c -1.223 -1.264 0.982 0.303 0.732 0.924 0 -2.95 0.052 -0.096 0.109 1.199 0.960 0.000 0.063 0.001 0.043 1.094 0.016 . ENSG00000272283.1|ENSG00000160305.13|ENSG00000160305.13|ENSG00000160284.10|ENSG00000272283.1|ENSG00000160305.13|ENSG00000182362.9|ENSG00000160305.13|ENSG00000182362.9|ENSG00000160310.12|ENSG00000160307.5|ENSG00000160305.13|ENSG00000160285.10 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Spleen|Testis|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2248 0.0748 0.1646 0.2301 0.4369 0.2443 0.2246 0.2315 0.2301 0.1891 0.0805 0.1659 0.1980 0.4298 0.2497 0.2100 0.2408 het 1730.96 115 21 47863757 . A C 1730.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.560;DP=115;Dels=0.00;FS=2.485;HRun=0;HaplotypeScore=8.3164;MQ=59.46;MQ0=0;MQRankSum=-0.256;QD=15.05;ReadPosRankSum=0.655;VQSLOD=3.7267;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,63:115:99:1761,0,1288 21 47969793 47969793 C T exonic DIP2A synonymous SNV DIP2A:NM_001146116:exon22:c.C2620T:p.L874L,DIP2A:NM_015151:exon22:c.C2632T:p.L878L,DIP2A:NM_206889:exon22:c.C2632T:p.L878L 0.04 0.0091 0.059 0.015 0.082 0.05 0.0629 0.0159 0.0286 0.0174 0.0749 0.0840 0.0741 0.0493 0.061 0.018 0.083 0.022 . rs17302700 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0625 0.0143 0.0338 0.0951 0.0174 0.0749 0.0832 0.0715 0.0479 0.0603 0.0141 0.0514 0.0728 0.0142 0.0752 0.0885 0.0663 het 1673.77 121 21 47969793 . C T 1673.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.786;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7208;MQ=59.66;MQ0=0;MQRankSum=2.221;QD=13.83;ReadPosRankSum=-0.054;VQSLOD=5.4316;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:61,60:121:99:1704,0,1762 21 48063476 48063476 C G exonic PRMT2 synonymous SNV PRMT2:NM_001242864:exon3:c.C69G:p.A23A,PRMT2:NM_001242865:exon3:c.C69G:p.A23A,PRMT2:NM_001242866:exon3:c.C69G:p.A23A,PRMT2:NM_001286676:exon3:c.C69G:p.A23A,PRMT2:NM_001286677:exon3:c.C69G:p.A23A,PRMT2:NM_001286678:exon3:c.C69G:p.A23A,PRMT2:NM_001535:exon3:c.C69G:p.A23A,PRMT2:NM_206962:exon4:c.C69G:p.A23A 0.86 0.86 0.87 0.91 0.8 0.88 0.8119 0.8507 0.8540 0.8903 0.7858 0.7784 0.8234 0.8618 0.81 0.85 0.78 0.84 0.64 rs10854485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8136 0.8476 0.8575 0.7553 0.8890 0.7853 0.7834 0.8105 0.8580 0.8044 0.8469 0.8489 0.77 0.8937 0.7763 0.7758 0.7842 het 2002.13 189 21 48063476 . C G 2002.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.821;DP=189;Dels=0.00;FS=1.150;HRun=2;HaplotypeScore=7.2713;MQ=59.19;MQ0=0;MQRankSum=0.744;QD=10.59;ReadPosRankSum=-2.549;VQSLOD=3.4535;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:99,90:189:99:2032,0,2322 22 17073066 17073066 A G exonic CCT8L2 synonymous SNV CCT8L2:NM_014406:exon1:c.T375C:p.A125A 0.87 0.95 0.83 0.69 0.93 0.91 0.8916 0.9438 0.7705 0.6562 0.8724 0.9309 0.9049 0.9145 0.94 0.94 0.93 0.65 0.86 rs5747988 COSM3759012 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8833 0.9438 0.7832 0.9542 0.6523 0.8701 0.9280 0.9077 0.9130 0.9062 0.9429 0.7852 0.9470 0.6638 0.8744 0.9245 0.9051 hom 2515.16 86 22 17073066 . A G 2515.16 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.39;MQ0=0;QD=29.25;VQSLOD=8.2849;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2548,223,0 22 17280822 17280822 G A exonic XKR3 nonsynonymous SNV XKR3:NM_001318251:exon3:c.C428T:p.T143M,XKR3:NM_175878:exon3:c.C428T:p.T143M 0.14 0.25 0.12 0.095 0.066 0.15 0.0951 0.2128 0.1689 0.1049 0.0438 0.0570 0.09 0.1429 0.1 0.2 0.057 0.2 0.057 rs5748648 . . . . . . . . . . . . . 0.108 0.294 T 0.021 0.172 B 0.002 0.063 B 0.328 0.041 N 1 0.090 P 0.55 0.145 N 0.23 0.597 T 0.27 0.043 N 0.016 0.003 -1.097 0.044 T 0.000 0.000 T . . . -0.770 0.042 0.050 0.974 0.334 0.010 0.037 N c -1.531 -1.551 0.947 0.277 0.487 0.133 0 -1.52 0.081 0.319 0.191 -0.671 0.040 0.970 0.340 0.007 0.100 2.115 0.035 . . . 0.0953 0.2172 0.1618 0.0563 0.1070 0.0442 0.0578 0.0853 0.1424 0.1053 0.2159 0.1423 0.0430 0.1100 0.0481 0.0551 0.0754 het 2103.52 195 22 17280822 . G A 2103.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.703;DP=195;DS;Dels=0.00;FS=0.540;HRun=0;HaplotypeScore=5.7155;MQ=58.86;MQ0=0;MQRankSum=0.521;QD=10.79;ReadPosRankSum=-0.710;VQSLOD=5.3057;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:110,85:195:99:2134,0,3003 22 17446991 17446991 C T exonic GAB4 synonymous SNV GAB4:NM_001037814:exon6:c.G1287A:p.K429K 0.83 0.98 0.84 0.84 0.74 0.68 0.7719 0.9492 0.8960 0.8381 0.7521 0.7368 0.7711 0.6951 0.82 0.94 0.75 0.84 0.78 rs4819925 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7763 0.9522 0.8867 0.7646 0.8395 0.7577 0.7355 0.7875 0.6958 0.8091 0.9414 0.8577 0.7682 0.8399 0.7636 0.7408 0.7556 hom 4914.69 155 22 17446991 . C T 4914.69 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;QD=31.71;VQSLOD=9.6980;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4914,376,0 22 17469026 17469026 G A exonic GAB4 synonymous SNV GAB4:NM_001037814:exon3:c.C510T:p.H170H 0.42 0.38 0.46 0.4 0.4 0.51 0.4269 0.3912 0.5274 0.4015 0.3750 0.4037 0.4433 0.5059 0.41 0.4 0.42 0.36 0.43 rs5992604 COSM3759013 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4271 0.3889 0.5123 0.4386 0.3993 0.3766 0.3999 0.4267 0.5000 0.3995 0.4028 0.4797 0.48 0.3956 0.3828 0.3979 0.3684 hom 774.86 28 22 17469026 . G A 774.86 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;QD=27.67;VQSLOD=8.1943;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:63.20:808,63,0 22 17469049 17469049 C A exonic GAB4 stopgain GAB4:NM_001037814:exon3:c.G487T:p.G163X 0.35 0.2 0.43 0.39 0.37 0.45 0.3867 0.2285 0.5020 0.3968 0.3678 0.3737 0.4201 0.4549 0.34 0.23 0.39 0.32 0.34 rs28502153 COSM5963796 1(breast) . . . . . . . . . . . . . . . . . . . . 0.000 0.002 U 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 7.035 0.939 33 0.967 0.303 0.266 0.228 N c 0.057 -0.318 0.000 0.048 0.487 0.133 0 -0.505 0.113 1.044 0.297 -1.061 0.020 1.000 0.715 0.024 0.140 2.274 0.038 . ENSG00000215568.3 Testis 0.3895 0.2233 0.4848 0.4187 0.3943 0.3686 0.3674 0.3946 0.4501 0.3359 0.2412 0.4436 0.4570 0.3925 0.3779 0.3666 0.3357 hom 554.57 20 22 17469049 . C A 554.57 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.561;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=58.84;MQ0=0;MQRankSum=1.561;QD=27.73;ReadPosRankSum=1.561;VQSLOD=7.1812;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,19:20:32.46:588,32,0 22 17630486 17630486 C A exonic HDHD5 synonymous SNV HDHD5:NM_017829:exon2:c.G186T:p.G62G,HDHD5:NM_033070:exon2:c.G276T:p.G92G 0.53 0.38 0.67 0.68 0.54 0.49 0.5723 0.3851 0.7707 0.6915 0.6331 0.5544 0.5782 0.5362 0.48 0.39 0.53 0.54 0.49 rs1034859 COSM4418902;COSM4418901 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5812 0.3842 0.7433 0.5325 0.6868 0.6422 0.5484 0.5633 0.5370 0.5313 0.3797 0.6766 0.5267 0.6806 0.6355 0.5665 0.5980 hom 5629.19 185 22 17630486 . C A 5629.19 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.256;DP=185;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3168;MQ=59.55;MQ0=0;MQRankSum=1.580;QD=30.43;ReadPosRankSum=0.723;VQSLOD=8.8959;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:3,181:185:99:5566,438,0 22 17669306 17669306 T C exonic ADA2 nonsynonymous SNV ADA2:NM_177405:exon4:c.A281G:p.H94R,ADA2:NM_001282229:exon6:c.A644G:p.H215R,ADA2:NM_001282225:exon7:c.A1004G:p.H335R,ADA2:NM_001282226:exon7:c.A1004G:p.H335R,ADA2:NM_001282227:exon7:c.A878G:p.H293R,ADA2:NM_001282228:exon7:c.A878G:p.H293R 0.36 0.57 0.32 0.23 0.32 0.31 0.3473 0.5499 0.3110 0.2566 0.3092 0.3435 0.3190 0.3241 0.41 0.55 0.33 0.41 0.37 rs2231495 COSM4002079;COSM4002080 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.312 0.139 T 0.237 0.291 B 0.015 0.162 B 0.006 0.325 N 1 0.182 P -1.28 0.007 N -1.54 0.817 D -1.16 0.297 N 0.085 0.088 -0.919 0.457 T 0.000 0.000 T . . . -0.853 0.038 0.033 0.477 0.039 0.269 0.229 N c -1.085 -1.031 0.569 0.215 0.758 0.990 0 0.283 0.149 2.553 0.453 -0.507 0.051 0.976 0.346 0.006 0.095 2.398 0.041 Adenosine/AMP deaminase N-terminal|Metal-dependent hydrolase;Adenosine/AMP deaminase domain|Metal-dependent hydrolase . . 0.3393 0.5522 0.3140 0.3861 0.2625 0.3018 0.3376 0.3414 0.3220 0.3869 0.5427 0.3038 0.3576 0.2565 0.3013 0.3387 0.3357 het 1559.90 114 22 17669306 . T C 1559.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.406;DP=114;Dels=0.00;FS=0.712;HRun=0;HaplotypeScore=4.9761;MQ=59.08;MQ0=0;MQRankSum=2.658;QD=13.68;ReadPosRankSum=0.054;VQSLOD=4.7972;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,64:114:99:1590,0,1222 22 18022046 18022046 T C exonic CECR2 synonymous SNV CECR2:NM_001290046:exon16:c.T1725C:p.H575H 0.0054 0.0053 0.011 . 0.011 0.001 0.0066 0.0060 0.0048 0 0.0017 0.0094 0.0023 0.0026 0.0099 0.0048 0.012 . . rs41277560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0063 0.0051 0.0044 0.0003 0 0.0019 0.0105 0.0042 0.0024 0.0077 0.0060 0.0060 0 0 0.0029 0.0111 0.0031 het 339.09 29 22 18022046 . T C 339.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.025;DP=29;Dels=0.00;FS=2.447;HRun=0;HaplotypeScore=0.7340;MQ=58.70;MQ0=0;MQRankSum=0.561;QD=11.69;ReadPosRankSum=-1.586;VQSLOD=5.1890;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,13:29:99:369,0,443 22 18022052 18022052 G C exonic CECR2 synonymous SNV CECR2:NM_001290046:exon16:c.G1731C:p.G577G 0.012 0.0008 0.019 . 0.04 0.0051 0.0282 0.0058 0.0093 0.0001 0.0749 0.0399 0.0284 0.0035 0.027 0.0061 0.036 0.011 . rs41277562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0270 0.0051 0.0090 0.0110 0.0002 0.0753 0.0381 0.0224 0.0033 0.0359 0.0070 0.0143 0.0166 0 0.0736 0.0496 0.0337 het 436.66 30 22 18022052 . G C 436.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.141;DP=30;Dels=0.00;FS=4.389;HRun=0;HaplotypeScore=2.3980;MQ=58.75;MQ0=0;MQRankSum=-1.185;QD=14.56;ReadPosRankSum=1.434;VQSLOD=4.1562;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,16:30:99:467,0,353 22 18209613 18209613 A G exonic BCL2L13 synonymous SNV BCL2L13:NM_001270727:exon5:c.A699G:p.S233S,BCL2L13:NM_001270730:exon5:c.A285G:p.S95S,BCL2L13:NM_001270726:exon6:c.A843G:p.S281S,BCL2L13:NM_001270729:exon6:c.A285G:p.S95S,BCL2L13:NM_001270731:exon6:c.A285G:p.S95S,BCL2L13:NM_015367:exon7:c.A771G:p.S257S 0.67 0.58 0.65 0.93 0.54 0.66 0.5914 0.6022 0.7001 0.9319 0.5100 0.5228 0.6035 0.6385 0.55 0.6 0.53 0.59 0.49 rs4488761 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5946 0.6042 0.6830 0.5798 0.9272 0.5103 0.5221 0.5741 0.6392 0.5594 0.5927 0.6981 0.5629 0.9199 0.5135 0.5062 0.5214 het 1657.26 118 22 18209613 . A G 1657.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.070;DP=118;Dels=0.00;FS=1.485;HRun=1;HaplotypeScore=4.4241;MQ=59.80;MQ0=0;MQRankSum=-1.093;QD=14.04;ReadPosRankSum=1.604;VQSLOD=4.9548;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,59:118:99:1687,0,1728 22 18300240 18300240 T C exonic MICAL3 synonymous SNV MICAL3:NM_015241:exon26:c.A5187G:p.L1729L 0.39 0.69 0.27 0.17 0.39 0.28 0.3781 0.6486 0.2076 0.2036 0.4159 0.4099 0.3513 0.2884 0.48 0.65 0.4 0.39 . rs5992854 COSM3766677;COSM3766678 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3658 0.6533 0.2117 0.4725 0.2060 0.4132 0.4004 0.3815 0.2855 0.4649 0.6485 0.2644 0.5033 0.2098 0.4096 0.4114 0.4283 het 521.87 36 22 18300240 . T C 521.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.401;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8650;MQ=58.30;MQ0=0;MQRankSum=0.000;QD=14.50;ReadPosRankSum=0.578;VQSLOD=5.6549;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,21:36:99:552,0,361 22 18300594 18300594 G A exonic MICAL3 synonymous SNV MICAL3:NM_015241:exon26:c.C4833T:p.D1611D 0.15 0.028 0.19 0.086 0.32 0.19 0.2671 0.0767 0.1539 0.0812 0.3122 0.3445 0.2685 0.2186 0.24 0.071 0.33 0.11 . rs11704160 COSM3766679 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2537 0.0655 0.1541 0.3938 0.0849 0.3006 0.3289 0.2817 0.2098 0.2424 0.0774 0.1842 0.3874 0.0802 0.3010 0.3374 0.3247 het 317.97 24 22 18300594 . G A 317.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.454;DP=24;Dels=0.00;FS=1.935;HRun=0;HaplotypeScore=1.6671;MQ=60.00;MQ0=0;MQRankSum=-0.202;QD=13.25;ReadPosRankSum=0.953;VQSLOD=5.7368;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:348,0,331 22 18300879 18300879 G A exonic MICAL3 synonymous SNV MICAL3:NM_015241:exon26:c.C4548T:p.S1516S 0.15 0.034 0.18 0.084 0.32 0.19 0.2811 0.0843 0.1765 0.0902 0.3287 0.3543 0.2686 0.2299 0.24 0.07 0.33 0.12 . rs11704809 COSM4135122 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2541 0.0679 0.1540 0.3910 0.0845 0.2984 0.3270 0.2821 0.2098 0.2417 0.0796 0.1830 0.3874 0.0786 0.3006 0.3358 0.3171 het 405.10 37 22 18300879 . G A 405.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.444;DP=37;Dels=0.00;FS=1.445;HRun=0;HaplotypeScore=0.9734;MQ=58.99;MQ0=0;MQRankSum=0.321;QD=10.95;ReadPosRankSum=-0.321;VQSLOD=6.4258;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,21:37:99:435,0,374 22 18301693 18301693 T C exonic MICAL3 nonsynonymous SNV MICAL3:NM_015241:exon26:c.A3734G:p.Q1245R 0.26 0.38 0.22 0.089 0.33 0.2 0.3003 0.3712 0.1767 0.0860 0.3423 0.3477 0.3005 0.2503 0.33 0.33 0.33 0.22 . rs8135914 . . . . . . . . . . . . . 0.577 0.060 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N 0.04 0.621 T 0.11 0.057 N 0.016 0.003 -0.949 0.412 T 0.000 0.000 T . . . -2.033 0.008 0.001 0.154 0.004 0.043 0.098 N c -1.597 -1.730 0.262 0.188 0.646 0.450 0 -4.25 0.035 -1.614 0.021 -5.961 0.000 0.000 0.063 0.000 0.016 6.364 0.205 . . . 0.2862 0.3635 0.1791 0.4046 0.0923 0.3367 0.3369 0.3148 0.2218 0.3358 0.3629 0.2069 0.4167 0.0922 0.3408 0.3496 0.3566 het 167.19 14 22 18301693 . T C 167.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.068;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.524;QD=11.94;ReadPosRankSum=-0.299;VQSLOD=10.3114;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:197,0,191 22 18901004 18901004 C T exonic PRODH nonsynonymous SNV PRODH:NM_001195226:exon13:c.G1238A:p.R413Q,PRODH:NM_016335:exon14:c.G1562A:p.R521Q 0.91 0.81 0.96 0.96 0.93 0.92 0.9171 0.8168 0.9609 0.9505 0.8940 0.9274 0.8930 0.9073 0.9 0.84 0.94 0.9 0.8 rs450046 COSM4004837 1(urinary_tract) Pathogenic|other|Pathogenic Proline_dehydrogenase_deficiency|Schizophrenia_4|not_provided RCV000004222.5|RCV000004223.5|RCV000115065.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen C0268529:239500:ORPHA419:61071003|C1833247:600850|CN221809 . . . . . . 0.455 0.088 T 0.0 0.026 B 0.0 0.013 B 0.001 0.400 N 0.984 0.248 P . . . 1.63 0.280 T 0.77 0.020 N 0.029 0.235 -0.985 0.339 T 0.000 0.000 T . . . 3.411 0.468 23.0 0.856 0.155 0.057 0.115 N c -0.569 -0.433 0.317 0.193 0.635 0.413 0 4.67 0.579 3.787 0.549 0.102 0.200 1.000 0.715 0.202 0.218 8.838 0.341 FAD-linked oxidoreductase-like|Proline dehydrogenase domain . . 0.9282 0.8140 0.9646 0.9527 0.9576 0.9161 0.9317 0.9312 0.9091 0.9057 0.8372 0.9570 0.9470 0.9530 0.9155 0.9328 0.9283 hom 458.82 17 22 18901004 . C T 458.82 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.90;MQ0=0;QD=26.99;VQSLOD=7.7567;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:36.12:492,36,0 22 18912677 18912677 C T exonic PRODH stopgain PRODH:NM_001195226:exon4:c.G230A:p.W77X,PRODH:NM_016335:exon5:c.G554A:p.W185X 0.056 0.12 0.048 0.03 0.048 0.011 0.0400 0.1047 0.0288 0.0276 0.0293 0.0383 0.0453 0.0242 0.058 0.1 0.036 . 0.016 rs11913840 COSM3759027 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.094 0.202 N 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 5.161 0.696 25.4 0.888 0.177 0.050 0.107 N c -0.298 -0.742 1.000 0.434 0.722 0.854 0 -6.11 0.019 -0.056 0.116 -0.294 0.082 0.001 0.137 0.152 0.205 6.835 0.230 Proline dehydrogenase domain ENSG00000100033.12 Adipose_Subcutaneous 0.0390 0.1059 0.0340 0.0470 0.0299 0.0273 0.0378 0.0534 0.0239 0.0529 0.1051 0.0525 0.0397 0.0228 0.0209 0.0343 0.0409 het 1881.52 119 22 18912677 . C T 1881.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.775;DP=119;Dels=0.00;FS=5.833;HRun=0;HaplotypeScore=3.7167;MQ=59.81;MQ0=0;MQRankSum=-0.503;QD=15.81;ReadPosRankSum=0.171;VQSLOD=4.0614;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,72:119:99:1912,0,1178 22 18912678 18912678 A G exonic PRODH nonsynonymous SNV PRODH:NM_001195226:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon5:c.T553C:p.W185R 0.78 0.92 0.67 0.97 0.56 0.71 0.6417 0.8658 0.6056 0.9683 0.4835 0.5769 0.6024 0.6814 0.67 0.86 0.58 0.7 0.55 rs4819756 . . . . . . . . . . . . . 0.503 0.077 T 0.0 0.026 B 0.0 0.013 B 0.094 0.202 N 0.999 0.212 P . . . -0.92 0.751 T 3.71 0.001 N 0.068 0.055 -0.991 0.324 T 0.000 0.000 T . . . -0.442 0.059 0.306 0.222 0.009 0.060 0.118 N c -0.980 -0.912 0.999 0.397 0.722 0.854 0 2.88 0.325 3.825 0.552 -2.299 0.003 0.770 0.291 0.105 0.191 6.438 0.209 Proline dehydrogenase domain ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8|ENSG00000100033.12|ENSG00000183628.8|ENSG00000100033.12|ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8|ENSG00000183628.8 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.6355 0.8685 0.6215 0.6723 0.9669 0.4892 0.5711 0.6180 0.6806 0.6509 0.8626 0.6583 0.6424 0.9617 0.4811 0.5384 0.5685 hom 3699.21 118 22 18912678 . A G 3699.21 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7167;MQ=59.80;MQ0=0;QD=31.35;VQSLOD=8.4016;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3699,292,0 22 19026613 19026613 A G exonic DGCR2 nonsynonymous SNV DGCR2:NM_001173533:exon9:c.T1295C:p.V432A,DGCR2:NM_001173534:exon9:c.T1286C:p.V429A,DGCR2:NM_001184781:exon10:c.T1409C:p.V470A,DGCR2:NM_005137:exon10:c.T1418C:p.V473A 0.43 0.57 0.41 0.34 0.36 0.43 0.3892 0.5304 0.3274 0.3463 0.2879 0.3818 0.3337 0.4407 0.42 0.51 0.38 0.43 0.39 rs2072123 COSM4135140 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.425 0.128 N 1 0.197 P -0.255 0.038 N 1.0 0.414 T -0.2 0.102 N 0.028 0.012 -0.977 0.357 T 0.000 0.000 T . . . -2.507 0.003 0.001 0.422 0.031 0.025 0.070 N c -1.917 -1.902 0.942 0.275 0.707 0.730 0 -4.41 0.033 -0.567 0.060 -2.065 0.005 0.000 0.063 0.000 0.016 2.715 0.048 . ENSG00000270393.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000273311.1|ENSG00000270393.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000273311.1|ENSG00000270393.1|ENSG00000273164.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000273164.1|ENSG00000273164.1|ENSG00000070413.14|ENSG00000273164.1|ENSG00000273164.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000273311.1|ENSG00000273311.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000270393.1|ENSG00000273311.1|ENSG00000273311.1|ENSG00000270393.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000273311.1|ENSG00000270393.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000270393.1|ENSG00000273164.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000270393.1|ENSG00000273164.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000273311.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000241527.1|ENSG00000270393.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000273311.1|ENSG00000273032.1|ENSG00000273311.1|ENSG00000273164.1|ENSG00000100056.7|ENSG00000273311.1|ENSG00000070413.14|ENSG00000273311.1|ENSG00000237517.4|ENSG00000241527.1|ENSG00000270393.1|ENSG00000273032.1|ENSG00000273311.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.3767 0.5311 0.3306 0.3858 0.3407 0.2854 0.3760 0.3670 0.4382 0.3997 0.5226 0.3337 0.4404 0.3331 0.2966 0.3646 0.3617 het 779.28 84 22 19026613 . A G 779.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.703;DP=84;Dels=0.00;FS=7.517;HRun=0;HaplotypeScore=3.6476;MQ=59.73;MQ0=0;MQRankSum=0.131;QD=9.28;ReadPosRankSum=0.094;VQSLOD=4.4975;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,37:84:99:809,0,1169 22 19119545 19119545 C T exonic TSSK2 synonymous SNV TSSK2:NM_053006:exon1:c.C633T:p.C211C 0.16 0.12 0.13 0.12 0.17 0.27 0.1742 0.1157 0.1190 0.1339 0.1402 0.1768 0.1375 0.2759 0.16 0.11 0.18 0.15 0.21 rs45604134 COSM5425332 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1692 0.1163 0.1200 0.1472 0.1284 0.1397 0.1767 0.1633 0.2741 0.1449 0.1109 0.1253 0.1767 0.1142 0.1425 0.1680 0.1629 het 2504.64 216 22 19119545 . C T 2504.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.367;DP=216;Dels=0.00;FS=0.506;HRun=0;HaplotypeScore=1.5777;MQ=60.00;MQ0=0;MQRankSum=0.012;QD=11.60;ReadPosRankSum=1.149;VQSLOD=6.0262;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:120,96:216:99:2535,0,3402 22 19119686 19119686 C T exonic TSSK2 synonymous SNV TSSK2:NM_053006:exon1:c.C774T:p.S258S 0.16 0.094 0.13 0.12 0.17 0.27 0.1720 0.0891 0.1179 0.1335 0.1400 0.1771 0.1367 0.2762 0.15 0.086 0.18 0.14 0.22 rs1052756 COSM5425333 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1671 0.0883 0.1187 0.1471 0.1284 0.1398 0.1766 0.1620 0.2739 0.1377 0.0877 0.1232 0.1755 0.1137 0.1426 0.1665 0.1636 het 1988.37 155 22 19119686 . C T 1988.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.442;DP=155;Dels=0.00;FS=1.309;HRun=0;HaplotypeScore=1.8100;MQ=59.61;MQ0=0;MQRankSum=-0.755;QD=12.83;ReadPosRankSum=1.330;VQSLOD=6.0712;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,78:155:99:2018,0,2150 22 19119751 19119751 C T exonic TSSK2 nonsynonymous SNV TSSK2:NM_053006:exon1:c.C839T:p.T280M 0.28 0.36 0.22 0.21 0.19 0.35 0.2283 0.3298 0.2470 0.2107 0.2495 0.1864 0.1920 0.3234 0.23 0.32 0.19 0.26 0.23 rs1052763 . . . . . . . . . . . . . 0.224 0.187 T 0.002 0.090 B 0.002 0.063 B 0.024 0.264 N 0.000 0.588 P -0.345 0.033 N -0.49 0.704 T -0.84 0.229 N 0.061 0.045 -1.018 0.244 T 0.000 0.000 T . . . 2.460 0.357 19.21 0.909 0.195 0.026 0.071 N c -0.712 -0.501 0.999 0.383 0.615 0.372 0 4.67 0.579 0.242 0.177 0.154 0.240 0.403 0.260 1.000 0.888 7.847 0.284 . ENSG00000270393.1|ENSG00000273032.1|ENSG00000273032.1|ENSG00000070413.14|ENSG00000270393.1|ENSG00000273032.1|ENSG00000070413.14|ENSG00000270393.1|ENSG00000273032.1|ENSG00000070413.14|ENSG00000070413.14|ENSG00000273032.1|ENSG00000241527.1|ENSG00000270393.1|ENSG00000273032.1|ENSG00000070413.14|ENSG00000270393.1|ENSG00000273032.1|ENSG00000070413.14|ENSG00000070413.14|ENSG00000241527.1|ENSG00000070413.14|ENSG00000270393.1|ENSG00000183628.8|ENSG00000273032.1|ENSG00000241527.1|ENSG00000070413.14|ENSG00000273164.1|ENSG00000241527.1|ENSG00000070413.14|ENSG00000270393.1|ENSG00000273032.1|ENSG00000273032.1|ENSG00000241527.1|ENSG00000270393.1|ENSG00000272682.1|ENSG00000241527.1|ENSG00000270393.1|ENSG00000273032.1|ENSG00000272682.1|ENSG00000100056.7|ENSG00000241527.1|ENSG00000070413.14|ENSG00000273164.1|ENSG00000237517.4|ENSG00000241527.1|ENSG00000270393.1|ENSG00000273032.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood 0.2223 0.3287 0.2339 0.1547 0.2009 0.2480 0.1820 0.2068 0.3193 0.2312 0.3274 0.2410 0.1788 0.1770 0.2496 0.1782 0.2172 het 1317.98 121 22 19119751 . C T 1317.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.719;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=59.35;MQ0=0;MQRankSum=-0.812;QD=10.89;ReadPosRankSum=0.875;VQSLOD=6.3706;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,53:121:99:1348,0,1912 22 19119938 19119938 G A exonic TSSK2 synonymous SNV TSSK2:NM_053006:exon1:c.G1026A:p.R342R 0.22 0.29 0.15 0.14 0.18 0.27 0.1934 0.2661 0.1281 0.1529 0.1642 0.1809 0.1507 0.2813 0.2 0.25 0.18 0.22 0.23 rs1052773 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1849 0.2652 0.1281 0.1514 0.1479 0.1668 0.1787 0.1734 0.2765 0.1929 0.2619 0.1337 0.1755 0.1307 0.1677 0.1703 0.1773 het 909.03 93 22 19119938 . G A 909.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.736;DP=93;Dels=0.00;FS=2.825;HRun=0;HaplotypeScore=3.6540;MQ=59.75;MQ0=0;MQRankSum=-1.279;QD=9.77;ReadPosRankSum=0.132;VQSLOD=5.2382;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,39:93:99:939,0,1507 22 19122665 19122665 C T exonic DGCR14 synonymous SNV DGCR14:NM_022719:exon9:c.G1059A:p.E353E 0.17 0.12 0.13 0.12 0.19 0.28 0.1819 0.1192 0.0888 0.1327 0.1536 0.1920 0.1402 0.2862 0.17 0.12 0.2 0.15 0.21 rs2240111 COSM5425334 1(breast);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1747 0.1198 0.0905 0.1506 0.1269 0.1525 0.1922 0.1704 0.2818 0.1568 0.1153 0.0943 0.1854 0.1123 0.1588 0.1874 0.1680 het 2166.22 138 22 19122665 . C T 2166.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.212;DP=138;Dels=0.00;FS=0.733;HRun=1;HaplotypeScore=4.7756;MQ=59.11;MQ0=0;MQRankSum=1.240;QD=15.70;ReadPosRankSum=-1.616;VQSLOD=5.0823;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,81:138:99:2196,0,1557 22 19189003 19189003 - C exonic CLTCL1 frameshift insertion CLTCL1:NM_001835:exon23:c.3601dupG:p.V1201Gfs*18,CLTCL1:NM_007098:exon23:c.3601dupG:p.V1201Gfs*18 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 0.9999 1 0.9999 1. 1. 1. 0.011 . rs11386977 COSM5713380;COSM5713379 2(central_nervous_system) Benign not_specified RCV000455507.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1 1 1 1 1.0000 1 1.0000 1.0000 1 1 1 1 1 0.9999 1 hom 7430.19 167 22 19189003 . A AC 7430.19 Mask AC=2;AF=1.00;AN=2;DP=167;FS=0.000;HRun=1;HaplotypeScore=344.4284;MQ=60.51;MQ0=0;QD=44.49;set=variant2 GT:AD:DP:GQ:PL 1/1:1,166:167:99:7430,500,0 22 19750773 19750773 T C exonic TBX1 synonymous SNV TBX1:NM_005992:exon4:c.T420C:p.F140F,TBX1:NM_080646:exon4:c.T420C:p.F140F,TBX1:NM_080647:exon4:c.T420C:p.F140F 0.23 0.023 0.28 0.46 0.22 0.24 0.2352 0.0442 0.3334 0.4699 0.1582 0.2276 0.2029 0.2273 0.16 0.044 0.23 0.25 0.28 rs41298814 COSM3759030;COSM3759029;COSM3759031 1(haematopoietic_and_lymphoid_tissue);1(oesophagus);1(large_intestine) Benign Cardiovascular_phenotype RCV000254087.1 MedGen CN230736 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2424 0.0410 0.3319 0.3035 0.4721 0.1597 0.2235 0.2258 0.2280 0.1847 0.0454 0.3437 0.2914 0.4875 0.1622 0.2272 0.1918 het 974.73 89 22 19750773 . T C 974.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.062;DP=89;Dels=0.00;FS=1.973;HRun=3;HaplotypeScore=2.6493;MQ=59.06;MQ0=0;MQRankSum=1.036;QD=10.95;ReadPosRankSum=-0.803;VQSLOD=5.7210;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,37:89:99:1005,0,1376 22 19751829 19751829 C T exonic TBX1 synonymous SNV TBX1:NM_005992:exon5:c.C664T:p.L222L,TBX1:NM_080646:exon5:c.C664T:p.L222L,TBX1:NM_080647:exon5:c.C664T:p.L222L 0.34 0.62 0.31 0.12 0.21 0.35 0.2806 0.5813 0.2782 0.1179 0.2376 0.2387 0.2734 0.3633 0.34 0.56 0.23 0.39 0.25 rs2301558 COSM3759033;COSM3759034;COSM3759032 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(thyroid);2(large_intestine) Benign|Benign Cardiovascular_phenotype|not_specified RCV000251932.1|RCV000454719.1 MedGen|MedGen CN230736|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2738 0.5827 0.2744 0.2559 0.1171 0.2386 0.2388 0.2774 0.3648 0.3278 0.5801 0.2710 0.2517 0.1171 0.2301 0.2354 0.2679 het 1809.55 189 22 19751829 . C T 1809.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.294;DP=189;Dels=0.00;FS=5.470;HRun=1;HaplotypeScore=5.8829;MQ=58.36;MQ0=0;MQRankSum=1.688;QD=9.57;ReadPosRankSum=0.679;VQSLOD=4.3752;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,76:189:99:1840,0,3027 22 19766782 19766782 C T exonic TBX1 nonsynonymous SNV TBX1:NM_080646:exon9:c.C1049T:p.T350M 0.21 0.16 0.26 0.12 0.17 0.38 0.2111 0.1471 0.2397 0.1154 0.2028 0.1920 0.2115 0.3621 0.17 0.15 0.18 0.12 0.17 rs4819522 COSM1414906 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000455726.1 MedGen CN169374 . . . . . . 0.048 0.400 D 0.997 0.689 D 0.736 0.537 P . . . 1 0.090 P 0.55 0.145 N -2.19 0.868 D -1.21 0.307 N 0.019 0.004 -1.037 0.182 T 0.000 0.001 T . . . 3.709 0.503 23.3 0.995 0.657 0.000 0.004 N c -0.752 -1.033 1.000 0.415 0.549 0.223 0 -3.37 0.046 -0.779 0.047 -1.450 0.011 0.000 0.063 0.000 0.016 3.511 0.072 . . . 0.2121 0.1447 0.2326 0.2114 0.1144 0.2080 0.1895 0.2209 0.3619 0.1738 0.1510 0.2243 0.2185 0.1184 0.2032 0.1807 0.2016 het 1853.72 150 22 19766782 . C T 1853.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.594;DP=150;Dels=0.00;FS=2.056;HRun=0;HaplotypeScore=2.6421;MQ=59.75;MQ0=0;MQRankSum=-0.774;QD=12.36;ReadPosRankSum=0.041;VQSLOD=6.3809;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,75:150:99:1884,0,1871 22 19808769 19808769 C T exonic GNB1L nonsynonymous SNV GNB1L:NM_053004:exon3:c.G110A:p.R37H 0.14 0.02 0.18 0.091 0.2 0.29 0.1971 0.0547 0.1302 0.0801 0.2281 0.2222 0.2101 0.2806 0.15 0.054 0.2 0.098 0.22 rs5748449 COSM3759037;COSM3759036 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.206 0.199 T 0.0 0.026 B 0.0 0.013 B 0.528 0.052 N 1 0.090 P -0.69 0.019 N 2.16 0.358 T 0.59 0.026 N 0.016 0.238 -1.020 0.239 T 0.000 0.000 T . . . 0.188 0.112 4.557 0.918 0.205 0.007 0.030 N c -1.732 -1.724 1.000 0.462 0.696 0.573 0 -4.57 0.032 -3.147 0.006 -1.122 0.018 0.000 0.063 0.000 0.016 4.561 0.115 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain ENSG00000215012.4 Nerve_Tibial 0.1953 0.0483 0.1399 0.3365 0.0783 0.2328 0.2073 0.2214 0.2743 0.1601 0.0514 0.1495 0.3609 0.0729 0.2396 0.2072 0.2159 hom 2646.76 90 22 19808769 . C T 2646.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.692;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4319;MQ=59.74;MQ0=0;MQRankSum=-0.776;QD=29.41;ReadPosRankSum=0.219;VQSLOD=7.7777;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,87:90:99:2680,229,0 22 19868218 19868218 A G exonic TXNRD2 unknown UNKNOWN 0.72 0.95 0.62 0.62 0.72 0.56 0.7012 0.9150 0.5511 0.6030 0.6915 0.7400 0.6950 0.5808 0.8 0.92 0.74 0.77 0.64 rs1139793 COSM5022107 1(bone);1(haematopoietic_and_lymphoid_tissue) Benign|Benign Cardiovascular_phenotype|not_specified RCV000251206.1|RCV000427346.1 MedGen|MedGen CN230736|CN169374 . . . . . . 0.216 0.192 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.997 0.228 P -0.595 0.022 N 0.55 0.547 T -1.35 0.336 N 0.05 0.120 -0.981 0.349 T 0.000 0.000 T . . . 2.110 0.315 16.92 0.780 0.117 0.035 0.086 N c -0.652 -0.427 1.000 0.747 0.733 0.969 0 5.38 0.772 5.829 0.688 0.135 0.219 1.000 0.715 0.106 0.191 13.614 0.614 FAD/NAD(P)-binding domain ENSG00000232926.1|ENSG00000215012.4|ENSG00000232926.1 Artery_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg 0.6915 0.9204 0.5612 0.7683 0.5926 0.6864 0.7391 0.7085 0.5794 0.7663 0.9145 0.6244 0.7914 0.5772 0.6794 0.7310 0.7177 hom 1559.39 53 22 19868218 . A G 1559.39 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.42;VQSLOD=14.0265;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1592,123,0 22 19906511 19906511 G A exonic TXNRD2 synonymous SNV TXNRD2:NM_001282512:exon4:c.C246T:p.L82L 0.17 0.37 0.12 0.013 0.15 0.11 0.1463 0.3763 0.0842 0.0126 0.1250 0.1510 0.1578 0.1154 0.21 0.34 0.15 0.054 0.049 rs11541479 . . Benign|Benign Cardiovascular_phenotype|not_specified RCV000245229.1|RCV000442146.1 MedGen|MedGen CN230736|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1355 0.3716 0.0831 0.1627 0.0116 0.1131 0.1457 0.1472 0.1135 0.1985 0.3737 0.0885 0.1457 0.0100 0.1289 0.1431 0.1612 het 794.47 46 22 19906511 . G A 794.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.137;DP=46;Dels=0.00;FS=3.446;HRun=1;HaplotypeScore=0.8941;MQ=59.50;MQ0=0;MQRankSum=-1.183;QD=17.27;ReadPosRankSum=-0.023;VQSLOD=5.8677;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,29:46:99:824,0,448 22 19907118 19907118 G A exonic TXNRD2 synonymous SNV TXNRD2:NM_001282512:exon3:c.C177T:p.A59A 0.6 0.39 0.63 0.88 0.51 0.65 0.5649 0.4302 0.6263 0.8092 0.5712 0.5426 0.6339 0.6157 0.45 0.4 0.48 0.48 0.34 rs5748470 . . Benign|Benign Cardiovascular_phenotype|not_specified RCV000254410.1|RCV000420580.1 MedGen|MedGen CN230736|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5712 0.3910 0.6922 0.5833 0.8687 0.5855 0.4826 0.5656 0.6204 0.5249 0.4119 0.6899 0.5993 0.8856 0.6070 0.5193 0.5626 het 328.21 15 22 19907118 . G A 328.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.736;DP=15;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=0.0000;MQ=54.50;MQ0=0;MQRankSum=-0.116;QD=21.88;ReadPosRankSum=1.504;VQSLOD=3.0052;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:1,14:15:6.90:358,0,7 22 19950235 19950235 C T exonic COMT synonymous SNV COMT:NM_007310:exon1:c.C36T:p.H12H,COMT:NM_000754:exon3:c.C186T:p.H62H,COMT:NM_001135161:exon3:c.C186T:p.H62H,COMT:NM_001135162:exon3:c.C186T:p.H62H 0.37 0.29 0.38 0.27 0.5 0.44 0.4680 0.3332 0.4029 0.2730 0.5546 0.5206 0.4775 0.4536 0.46 0.34 0.52 0.35 0.43 rs4633 COSM149252 1(stomach) Benign not_specified RCV000249561.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4648 0.3279 0.4035 0.4685 0.2692 0.5458 0.5189 0.4907 0.4496 0.4542 0.3346 0.3962 0.4702 0.2580 0.5499 0.5230 0.4959 hom 1773.31 56 22 19950235 . C T 1773.31 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=58.50;MQ0=0;QD=31.67;VQSLOD=9.6320;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1806,144,0 22 19951271 19951271 G A exonic COMT nonsynonymous SNV COMT:NM_007310:exon2:c.G322A:p.V108M,COMT:NM_000754:exon4:c.G472A:p.V158M,COMT:NM_001135161:exon4:c.G472A:p.V158M,COMT:NM_001135162:exon4:c.G472A:p.V158M 0.37 0.28 0.38 0.28 0.5 0.44 0.4727 0.3197 0.4075 0.2849 0.5723 0.5283 0.4827 0.4481 0.45 0.31 0.52 0.33 0.41 rs4680 COSM4997949 1(pancreas) Benign|drug response|Benign CATECHOL-O-METHYLTRANSFERASE_POLYMORPHISM|nicotine_response_-_Efficacy|not_specified RCV000019156.3|RCV000211145.1|RCV000244083.1 MedGen|MedGen CN236568|CN169374 Blood metabolite levels . .04 24816252 rs4680 1E-13 0.218 0.344 T 0.016 0.376 B 0.05 0.266 B 0.138 0.184 N 1.000 0.195 P 2.02 0.555 M -0.71 0.729 T 0.66 0.026 N 0.068 0.564 -0.922 0.453 T 0.000 0.000 T . . . 1.131 0.203 11.38 0.978 0.355 0.254 0.225 N c -0.924 -0.949 1.000 0.747 0.742 0.980 0 -0.75 0.105 0.146 0.159 -0.321 0.076 0.142 0.233 0.920 0.395 6.553 0.215 S-adenosyl-L-methionine-dependent methyltransferase ENSG00000093010.7|ENSG00000099889.9|ENSG00000099889.9 Esophagus_Mucosa|Esophagus_Mucosa|Thyroid 0.4625 0.3079 0.4028 0.4597 0.2721 0.5529 0.5196 0.4890 0.4405 0.4475 0.3110 0.3935 0.4669 0.2596 0.5510 0.5228 0.4938 hom 1747.45 56 22 19951271 . G A 1747.45 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.59;MQ0=0;QD=31.20;VQSLOD=9.3183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1780,144,0 22 19959473 19959473 C T exonic ARVCF nonsynonymous SNV ARVCF:NM_001670:exon18:c.G2717A:p.R906Q 0.62 0.43 0.62 0.53 0.85 0.72 0.7512 0.4919 0.5634 0.5126 0.7949 0.8580 0.7882 0.7201 0.73 0.5 0.86 0.66 0.88 rs165815 . . . . . . . . . . . . . 0.543 0.077 T 0.002 0.144 B 0.001 0.040 B 0.627 0.107 N 0.547 0.313 P 0.84 0.212 L -0.11 0.645 T -0.09 0.084 N 0.062 0.047 -0.986 0.336 T 0.000 0.000 T . . . 1.176 0.208 11.62 0.755 0.107 0.266 0.228 N c -0.895 -0.828 1.000 0.747 0.672 0.522 0 1.91 0.247 1.894 0.392 0.007 0.138 1.000 0.715 0.358 0.247 4.879 0.129 . ENSG00000099889.9 Cells_Transformed_fibroblasts 0.7474 0.4876 0.5811 0.8377 0.5039 0.7983 0.8596 0.7846 0.7185 0.7223 0.5001 0.6304 0.8146 0.4659 0.8049 0.8584 0.7961 hom 2543.25 85 22 19959473 . C T 2543.25 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8773;MQ=59.12;MQ0=0;QD=29.92;VQSLOD=8.4655;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2576,199,0 22 19968971 19968971 G A exonic ARVCF nonsynonymous SNV ARVCF:NM_001670:exon5:c.C659T:p.P220L 0.36 0.39 0.35 0.23 0.34 0.48 0.4773 0.4792 0.4853 0.3223 0.5434 0.4628 0.4338 0.5426 0.34 0.35 0.34 0.4 0.15 rs2073748 COSM1751722 1(urinary_tract);8(large_intestine) . . . . . . . . . . . 0.063 0.461 T 0.0 0.026 B 0.001 0.040 B 0.003 0.364 N 0.986 0.246 P -0.69 0.019 N 1.57 0.293 T -0.84 0.229 N 0.066 0.112 -0.917 0.459 T 0.000 0.000 T . . . 0.559 0.147 7.870 0.729 0.098 0.174 0.196 N c -0.920 -0.882 1.000 0.500 0.696 0.567 0 1.26 0.204 2.283 0.429 0.073 0.181 0.931 0.321 0.845 0.352 1.505 0.023 . ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9 Artery_Aorta|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Stomach|Thyroid 0.3858 0.3789 0.3766 0.3633 0.2432 0.4203 0.3800 0.3763 0.4761 0.3578 0.3495 0.3553 0.3767 0.2176 0.3913 0.3681 0.3824 het 157.57 12 22 19968971 . G A 157.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.869;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.779;QD=13.13;ReadPosRankSum=1.191;VQSLOD=5.9784;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:188,0,190 22 19969075 19969075 A G exonic ARVCF synonymous SNV ARVCF:NM_001670:exon5:c.T555C:p.S185S 0.72 0.8 0.65 0.61 0.77 0.74 0.7375 0.7966 0.6050 0.5970 0.7350 0.7775 0.7127 0.7243 0.81 0.83 0.8 0.7 0.58 rs2073747 COSM3759040 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7261 0.7949 0.6148 0.7037 0.5889 0.7256 0.7792 0.7367 0.7143 0.7565 0.7986 0.6360 0.7583 0.5508 0.7337 0.7668 0.7490 hom 1144.61 41 22 19969075 . A G 1144.61 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.44;MQ0=0;QD=27.92;VQSLOD=7.8343;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1178,108,0 22 19969106 19969106 A G exonic ARVCF nonsynonymous SNV ARVCF:NM_001670:exon5:c.T524C:p.V175A 0.42 0.6 0.37 0.23 0.35 0.49 0.3941 0.5702 0.3791 0.2295 0.4070 0.3706 0.3505 0.4846 0.41 0.53 0.34 0.4 0.3 rs2240717 COSM3759041 1(haematopoietic_and_lymphoid_tissue);1(liver);2(large_intestine) . . . . . . . . . . . 0.531 0.072 T 0.0 0.026 B 0.0 0.013 B 0.631 0.058 N 1 0.090 P -0.55 0.024 N 1.63 0.280 T 0.35 0.041 N 0.009 0.001 -0.925 0.449 T 0.000 0.000 T . . . -1.522 0.016 0.002 0.368 0.024 0.032 0.081 N c -1.507 -1.422 1.000 0.489 0.737 0.974 0 0.002 0.133 2.692 0.464 -1.834 0.006 0.157 0.235 0.002 0.062 8.989 0.350 . ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9|ENSG00000099889.9 Artery_Aorta|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Stomach|Thyroid 0.3831 0.5606 0.3754 0.3555 0.2339 0.3958 0.3604 0.3741 0.4748 0.4152 0.5480 0.3777 0.3808 0.2176 0.3909 0.3690 0.3971 het 456.16 58 22 19969106 . A G 456.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.858;DP=58;Dels=0.00;FS=1.147;HRun=0;HaplotypeScore=4.9239;MQ=58.14;MQ0=0;MQRankSum=0.452;QD=7.86;ReadPosRankSum=0.606;VQSLOD=4.3806;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,24:58:99:486,0,883 22 20043504 20043504 G A exonic TANGO2 nonsynonymous SNV TANGO2:NM_001283235:exon5:c.G125A:p.R42Q,TANGO2:NM_001322150:exon5:c.G125A:p.R42Q,TANGO2:NM_001322153:exon5:c.G125A:p.R42Q,TANGO2:NM_001322155:exon5:c.G125A:p.R42Q,TANGO2:NM_001322171:exon5:c.G125A:p.R42Q,TANGO2:NM_001322172:exon5:c.G125A:p.R42Q,TANGO2:NM_001322173:exon5:c.G125A:p.R42Q,TANGO2:NM_001322174:exon5:c.G125A:p.R42Q,TANGO2:NM_001322175:exon5:c.G125A:p.R42Q,TANGO2:NM_001283116:exon6:c.G419A:p.R140Q,TANGO2:NM_001283129:exon6:c.G542A:p.R181Q,TANGO2:NM_001283148:exon6:c.G419A:p.R140Q,TANGO2:NM_001283154:exon6:c.G419A:p.R140Q,TANGO2:NM_001283215:exon6:c.G542A:p.R181Q,TANGO2:NM_001322141:exon6:c.G542A:p.R181Q,TANGO2:NM_001322142:exon6:c.G419A:p.R140Q,TANGO2:NM_001322143:exon6:c.G542A:p.R181Q,TANGO2:NM_001322144:exon6:c.G542A:p.R181Q,TANGO2:NM_001322146:exon6:c.G317A:p.R106Q,TANGO2:NM_001322148:exon6:c.G317A:p.R106Q,TANGO2:NM_001322160:exon6:c.G317A:p.R106Q,TANGO2:NM_152906:exon6:c.G419A:p.R140Q,TANGO2:NM_001283106:exon7:c.G419A:p.R140Q 0.002 . 0.0043 . 0.007 . 0.0069 0.0017 0.0047 0.0002 0.0126 0.0100 0.0121 0.0004 0.0057 0.0018 0.0077 . 0.016 rs142442293 . . Likely benign not_provided RCV000443455.1 MedGen CN221809 . . . . . . 0.013 0.538 D 0.807 0.454 P 0.131 0.370 B 0.000 0.504 D 0.976 0.810 D 2.37 0.685 M 1.93 0.229 T -1.89 0.493 N 0.407 0.663 -1.001 0.297 T 0.057 0.241 T . . . 3.898 0.525 23.5 0.999 0.940 0.865 0.455 D c 0.224 0.244 1.000 0.747 0.732 0.924 0 4.52 0.546 2.111 0.413 0.953 0.551 0.999 0.424 0.996 0.625 12.943 0.576 . . . 0.0061 0.0014 0.0030 0.0016 0.0001 0.0132 0.0089 0.0097 0.0005 0.0058 0.0007 0.0048 0 0 0.0117 0.0079 0.0102 het 749.77 90 22 20043504 . G A 749.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.892;DP=90;Dels=0.00;FS=0.821;HRun=1;HaplotypeScore=0.9159;MQ=59.33;MQ0=0;MQRankSum=-0.183;QD=8.33;ReadPosRankSum=0.268;VQSLOD=4.6492;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,33:90:99:780,0,1517 22 20131115 20131115 C T exonic ZDHHC8 synonymous SNV ZDHHC8:NM_001185024:exon10:c.C1962T:p.N654N,ZDHHC8:NM_013373:exon10:c.C1962T:p.N654N 0.083 0.0045 0.1 0.004 0.17 0.17 0.1464 0.0332 0.0816 0.0019 0.1395 0.1851 0.1788 0.1820 0.13 0.03 0.18 0.043 0.2 rs9605069 COSM3759043;COSM3759042 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1385 0.0270 0.0852 0.2452 0.0009 0.1221 0.1737 0.1670 0.1746 0.1072 0.0271 0.0788 0.2067 0.0019 0.1333 0.1571 0.1324 het 350.73 27 22 20131115 . C T 350.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.290;DP=27;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=0.9987;MQ=60.00;MQ0=0;MQRankSum=1.871;QD=12.99;ReadPosRankSum=0.237;VQSLOD=5.3162;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:11,16:27:99:381,0,263 22 20779768 20779768 G C exonic SCARF2 nonsynonymous SNV SCARF2:NM_153334:exon14:c.C2509G:p.R837G,SCARF2:NM_182895:exon14:c.C2494G:p.R832G 0.53 0.62 0.5 0.33 0.65 0.54 0.5814 0.6200 0.4253 0.3594 0.6813 0.6310 0.6230 0.5700 0.65 0.66 0.65 0.28 0.2 rs874101 COSM5458095 1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . 0.0 0.026 B 0.001 0.040 B 0.051 0.020 N 1 0.090 P 0.46 0.130 N . . . . . . 0.022 0.009 -0.943 0.422 T 0.000 0.000 T . . . 0.110 0.104 3.717 0.871 0.164 0.012 0.042 N c -1.240 -1.292 1.000 0.517 0.646 0.450 0 -3.09 0.050 0.250 0.179 0.872 0.381 0.000 0.063 0.355 0.247 1.718 0.027 . ENSG00000099917.13 Adipose_Subcutaneous 0.5492 0.5840 0.3740 0.6300 0.3087 0.6584 0.6040 0.5865 0.5222 0.6094 0.6139 0.4487 0.6567 0.3366 0.6898 0.6262 0.6029 het 62.54 15 22 20779768 . G C 62.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.457;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=-0.457;QD=4.17;ReadPosRankSum=0.588;VQSLOD=4.5187;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,4:15:92.53:93,0,243 22 21141300 21141300 T C exonic SERPIND1 synonymous SNV SERPIND1:NM_000185:exon5:c.T1446C:p.H482H 0.52 0.61 0.55 0.56 0.47 0.38 0.4558 0.5871 0.5914 0.5310 0.2840 0.4344 0.4394 0.3946 0.5 0.58 0.45 0.51 0.51 rs4675 COSM149258;COSM3759056 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4576 0.5923 0.5846 0.48 0.5267 0.2873 0.4385 0.4730 0.3965 0.4754 0.5892 0.5709 0.4801 0.5293 0.2905 0.4451 0.4182 het 2191.41 153 22 21141300 . T C 2191.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.716;DP=153;Dels=0.00;FS=2.045;HRun=1;HaplotypeScore=6.7223;MQ=58.58;MQ0=0;MQRankSum=0.776;QD=14.32;ReadPosRankSum=1.463;VQSLOD=4.4054;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:73,80:153:99:2221,0,1779 22 21167787 21167787 G A exonic PI4KA synonymous SNV PI4KA:NM_058004:exon8:c.C864T:p.C288C 0.49 0.6 0.51 0.55 0.43 0.33 0.4233 0.5750 0.5613 0.5144 0.2586 0.3978 0.4183 0.3529 0.46 0.57 0.41 0.47 0.4 rs165854 COSM149259 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4238 0.5795 0.5532 0.4245 0.5123 0.2612 0.4010 0.4357 0.3540 0.4497 0.5734 0.5573 0.4272 0.5130 0.2738 0.4098 0.3982 het 389.21 44 22 21167787 . G A 389.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.978;DP=44;Dels=0.00;FS=3.752;HRun=2;HaplotypeScore=1.9856;MQ=59.05;MQ0=0;MQRankSum=0.292;QD=8.85;ReadPosRankSum=-0.064;VQSLOD=6.1063;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,18:44:99:419,0,713 22 21327589 21327589 C T exonic AIFM3 nonsynonymous SNV AIFM3:NM_001146288:exon3:c.C43T:p.P15S 0.22 0.16 0.22 0.43 0.11 0.19 0.2640 0.2312 0.4339 0.5374 0.3784 0.2199 0.2317 0.2366 0.13 0.15 0.12 0.17 0.025 rs178264 . . . . . . . . . . . . . 0.612 0.054 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 0.93 0.441 T 0.31 0.040 N 0.012 0.001 -0.904 0.475 T 0.000 0.000 T . . . 0.229 0.116 4.985 0.534 0.048 0.072 0.131 N c -0.524 -0.736 0.104 0.165 0.428 0.059 0 -0.471 0.115 0.234 0.176 -0.394 0.063 0.005 0.169 0.218 0.221 4.804 0.126 . . . 0.1790 0.1537 0.2507 0.0799 0.4183 0.1783 0.1199 0.1506 0.2103 0.1493 0.1446 0.2136 0.0596 0.3889 0.1672 0.1186 0.1753 het 117.44 17 22 21327589 . C T 117.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.156;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.35;MQ0=0;MQRankSum=-1.357;QD=6.91;ReadPosRankSum=1.859;VQSLOD=3.7065;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:11,6:17:99:147,0,273 22 21330787 21330787 C T exonic AIFM3 synonymous SNV AIFM3:NM_001018060:exon11:c.C990T:p.A330A,AIFM3:NM_001146288:exon11:c.C1008T:p.A336A,AIFM3:NM_144704:exon11:c.C990T:p.A330A 0.19 0.2 0.19 0.11 0.3 0.16 0.2415 0.2010 0.1408 0.1225 0.2287 0.3041 0.2472 0.1532 0.27 0.2 0.31 0.21 0.31 rs7285694 COSM4135183;COSM4135182;COSM4135181 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2385 0.1964 0.1489 0.3268 0.1193 0.2277 0.3060 0.2613 0.1553 0.2424 0.2073 0.1659 0.3433 0.1185 0.2322 0.2820 0.2279 het 498.55 44 22 21330787 . C T 498.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.749;DP=44;Dels=0.00;FS=1.216;HRun=0;HaplotypeScore=5.6823;MQ=58.33;MQ0=0;MQRankSum=-0.211;QD=11.33;ReadPosRankSum=-2.420;VQSLOD=3.8372;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,23:44:99:529,0,575 22 21331043 21331043 A T exonic AIFM3 synonymous SNV AIFM3:NM_001018060:exon12:c.A1134T:p.R378R,AIFM3:NM_001146288:exon12:c.A1152T:p.R384R,AIFM3:NM_144704:exon12:c.A1134T:p.R378R 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.74 rs178269 COSM4135186;COSM4135184;COSM4135185 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 850.68 25 22 21331043 . A T 850.68 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.03;VQSLOD=13.2955;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:75.22:884,75,0 22 21337325 21337325 G A exonic LZTR1 synonymous SNV LZTR1:NM_006767:exon2:c.G210A:p.K70K 0.29 0.24 0.34 0.2 0.26 0.41 0.2850 0.2535 0.4281 0.2142 0.2511 0.2630 0.2804 0.3440 0.26 0.26 0.26 0.26 0.25 rs13054014 COSM3759057 1(breast);1(thyroid);1(large_intestine) Benign not_specified RCV000417459.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2867 0.2530 0.4116 0.2251 0.2164 0.2478 0.2628 0.2846 0.3411 0.2716 0.2520 0.4153 0.2219 0.2177 0.2582 0.2845 0.2770 het 1770.82 134 22 21337325 . G A 1770.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.235;DP=134;Dels=0.00;FS=1.473;HRun=2;HaplotypeScore=0.0000;MQ=59.66;MQ0=0;MQRankSum=-0.241;QD=13.22;ReadPosRankSum=-0.083;VQSLOD=6.7386;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,69:134:99:1801,0,1673 22 21348914 21348914 C T exonic LZTR1 synonymous SNV LZTR1:NM_006767:exon15:c.C1683T:p.R561R 0.17 0.2 0.11 0.23 0.14 0.14 0.1408 0.1754 0.1060 0.2202 0.1646 0.1282 0.1333 0.1435 0.14 0.18 0.12 0.12 0.074 rs4822790 . . Benign not_specified RCV000419233.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1382 0.1764 0.1050 0.1224 0.2207 0.1627 0.1259 0.1260 0.1437 0.1557 0.1870 0.1014 0.1126 0.2146 0.1730 0.1308 0.1578 het 1070.44 86 22 21348914 . C T 1070.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.779;DP=86;Dels=0.00;FS=1.835;HRun=0;HaplotypeScore=3.3976;MQ=59.22;MQ0=0;MQRankSum=0.954;QD=12.45;ReadPosRankSum=-0.822;VQSLOD=6.0396;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,43:86:99:1100,0,1208 22 21354970 21354970 C G exonic THAP7 nonsynonymous SNV THAP7:NM_030573:exon3:c.G343C:p.A115P,THAP7:NM_001008695:exon4:c.G343C:p.A115P 0.85 0.85 0.88 0.86 0.84 0.85 0.8394 0.8330 0.9141 0.8442 0.8480 0.8203 0.8355 0.8623 0.85 0.85 0.86 0.86 0.82 rs426938 COSM149260 1(stomach);3(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.888 0.087 N 1 0.090 P -0.345 0.033 N -3.75 0.955 D 0.94 0.015 N 0.024 0.007 -0.977 0.357 T 0.000 0.000 T . . . -0.669 0.046 0.085 0.483 0.040 0.009 0.036 N c -1.868 -1.808 1.000 0.747 0.628 0.401 0 0.539 0.163 0.097 0.149 -0.760 0.034 0.004 0.165 0.000 0.016 3.205 0.062 . . . 0.8407 0.8278 0.9048 0.8060 0.8432 0.8515 0.8183 0.8367 0.8613 0.8370 0.8377 0.9021 0.8245 0.8327 0.8486 0.8288 0.8701 het 3186.17 233 22 21354970 . C G 3186.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.762;DP=233;Dels=0.00;FS=1.690;HRun=4;HaplotypeScore=4.2335;MQ=59.45;MQ0=0;MQRankSum=2.077;QD=13.67;ReadPosRankSum=-0.200;VQSLOD=5.1751;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:111,122:233:99:3216,0,2893 22 21377301 21377301 C A exonic P2RX6 synonymous SNV P2RX6:NM_001349874:exon4:c.C81A:p.P27P,P2RX6:NM_001349875:exon4:c.C81A:p.P27P,P2RX6:NM_001349876:exon4:c.C81A:p.P27P,P2RX6:NM_001159554:exon5:c.C456A:p.P152P,P2RX6:NM_005446:exon5:c.C534A:p.P178P 0.63 0.76 0.67 0.63 0.54 0.52 0.5608 0.7357 0.6763 0.6385 0.5451 0.5253 0.5552 0.4791 0.59 0.73 0.52 0.75 . rs1548411 COSM4135189;COSM4135190 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5645 0.7322 0.6727 0.5318 0.6407 0.5540 0.5250 0.5725 0.4807 0.6000 0.7262 0.6859 0.5166 0.6422 0.5580 0.5316 0.5552 het 1846.27 167 22 21377301 . C A 1846.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.135;DP=167;Dels=0.00;FS=3.664;HRun=0;HaplotypeScore=5.3146;MQ=58.78;MQ0=0;MQRankSum=0.138;QD=11.06;ReadPosRankSum=0.511;VQSLOD=5.1797;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:97,70:167:99:1876,0,2333 22 21384578 21384578 C T exonic SLC7A4 nonsynonymous SNV SLC7A4:NM_004173:exon3:c.G1045A:p.A349T 0.33 0.34 0.25 0.55 0.11 0.38 0.2070 0.3028 0.3382 0.5501 0.1258 0.1020 0.1987 0.3263 0.17 0.3 0.1 0.35 0.098 rs2270384 COSM3759060 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.543 0.067 T 0.001 0.067 B 0.003 0.080 B 0.006 0.324 N 1 0.090 P 0.37 0.121 N -2.51 0.893 D -0.44 0.146 N 0.047 0.028 -0.969 0.373 T 0.000 0.000 T . . . 0.901 0.180 10.08 0.959 0.276 0.235 0.219 N c -0.910 -0.902 0.999 0.374 0.487 0.133 0 2.62 0.302 0.243 0.177 0.070 0.177 0.000 0.063 0.011 0.114 9.277 0.367 . ENSG00000226872.1|ENSG00000099960.8|ENSG00000187905.6|ENSG00000206145.4 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal 0.2053 0.2985 0.3198 0.1487 0.5521 0.1218 0.0953 0.1764 0.3206 0.1886 0.3007 0.3007 0.1367 0.5663 0.1246 0.0959 0.1365 het 741.42 59 22 21384578 . C T 741.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.280;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5088;MQ=58.33;MQ0=0;MQRankSum=-1.145;QD=12.57;ReadPosRankSum=1.190;VQSLOD=5.0390;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,30:59:99:771,0,690 22 21386019 21386019 G A exonic SLC7A4 nonsynonymous SNV SLC7A4:NM_004173:exon2:c.C83T:p.T28I 0.33 0.34 0.25 0.54 0.11 0.38 0.2083 0.3016 0.3386 0.5489 0.1275 0.1020 0.2012 0.3402 0.17 0.3 0.1 0.32 0.066 rs2072550 COSM444745 1(large_intestine) . . . . . . . . . . . 0.34 0.212 T 0.073 0.226 B 0.043 0.229 B 0.065 0.219 N 1 0.090 P 2.635 0.774 M -2.05 0.858 D -0.78 0.227 N 0.007 0.184 -0.954 0.403 T 0.000 0.000 T . . . -0.770 0.042 0.050 0.942 0.239 0.454 0.273 N c -0.701 -0.719 1.000 0.429 0.598 0.340 0 -2.36 0.062 2.645 0.460 -0.939 0.025 1.000 0.715 0.018 0.130 11.613 0.501 . ENSG00000226872.1|ENSG00000099960.8|ENSG00000187905.6|ENSG00000206145.4 Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal 0.2063 0.2988 0.3226 0.1513 0.5534 0.1211 0.0956 0.1776 0.3222 0.1882 0.3000 0.3026 0.1358 0.5632 0.1245 0.0958 0.1354 het 782.68 57 22 21386019 . G A 782.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.029;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6475;MQ=58.57;MQ0=0;MQRankSum=0.823;QD=13.73;ReadPosRankSum=0.152;VQSLOD=6.2095;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,30:57:99:813,0,730 22 21800042 21800042 T C exonic HIC2 synonymous SNV HIC2:NM_015094:exon3:c.T858C:p.A286A 0.94 1. 0.99 0.94 0.99 0.77 0.9683 0.9981 0.9880 0.9476 0.9883 0.9929 0.9804 0.8426 1. 1. 0.99 0.96 0.61 rs467181 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9698 0.9981 0.9900 0.9977 0.9461 0.9894 0.9931 0.9777 0.8448 0.9920 0.9983 0.9952 0.9901 0.9531 0.9897 0.9937 0.9807 hom 2695.73 85 22 21800042 . T C 2695.73 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7186;MQ=57.56;MQ0=0;QD=31.71;VQSLOD=7.6181;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2729,220,0 22 21800444 21800444 T C exonic HIC2 synonymous SNV HIC2:NM_015094:exon3:c.T1260C:p.H420H 0.94 1. 0.99 0.93 0.99 0.79 0.9710 0.9980 0.9880 0.9434 0.9883 0.9929 0.9831 0.8639 1. 1. 0.99 0.99 0.66 rs128477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9723 0.9981 0.9902 0.9977 0.9413 0.9891 0.9931 0.9785 0.8646 0.9920 0.9983 0.9952 0.9901 0.9536 0.9894 0.9937 0.9816 hom 4707.14 152 22 21800444 . T C 4707.14 Mask AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5113;MQ=59.45;MQ0=0;QD=30.97;VQSLOD=8.5425;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,151:152:99:4706,388,0 22 21988599 21988599 G A exonic CCDC116 nonsynonymous SNV CCDC116:NM_001331066:exon3:c.G361A:p.G121R,CCDC116:NM_152612:exon3:c.G361A:p.G121R 0.13 0.11 0.16 0.042 0.2 0.15 0.1496 0.1123 0.1055 0.0334 0.0847 0.1785 0.1954 0.1716 0.16 0.11 0.19 0.065 0.16 rs371513 COSM4002099 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.408 0.102 T 0.012 0.208 B 0.018 0.173 B 0.784 0.094 N 1 0.090 P -0.405 0.030 N 2.01 0.213 T -2.5 0.543 D 0.051 0.032 -0.922 0.453 T 0.000 0.000 T . . . -1.989 0.008 0.001 0.729 0.098 0.039 0.092 N c -1.484 -1.514 1.000 0.473 0.403 0.052 0 -2.88 0.053 -1.148 0.033 -1.648 0.008 0.000 0.063 0.005 0.090 8.782 0.338 . . . 0.1487 0.1100 0.1103 0.1996 0.0333 0.0846 0.1833 0.1738 0.1727 0.1355 0.1098 0.1384 0.2033 0.0340 0.0840 0.1717 0.1378 het 1816.23 133 22 21988599 . G A 1816.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.212;DP=133;Dels=0.00;FS=2.422;HRun=0;HaplotypeScore=8.4606;MQ=59.27;MQ0=0;MQRankSum=0.780;QD=13.66;ReadPosRankSum=-0.182;VQSLOD=4.7503;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,66:133:99:1846,0,1929 22 22842206 22842206 T C exonic ZNF280B synonymous SNV ZNF280B:NM_080764:exon4:c.A1518G:p.S506S 0.8 0.77 0.9 0.77 0.91 0.69 0.8443 0.7911 0.8509 0.7821 0.8576 0.8941 0.8524 0.6984 0.86 0.78 0.9 0.71 0.87 rs11109 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8452 0.7868 0.8537 0.8395 0.7800 0.8507 0.8983 0.8631 0.7033 0.8480 0.7952 0.8699 0.8633 0.7920 0.8448 0.8830 0.8615 hom 5565.89 183 22 22842206 . T C 5565.89 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6665;MQ=60.00;MQ0=0;QD=30.41;VQSLOD=7.8161;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:5565,457,0 22 22842957 22842957 T G exonic ZNF280B nonsynonymous SNV ZNF280B:NM_080764:exon4:c.A767C:p.E256A 0.82 0.86 0.9 0.77 0.91 0.69 0.8510 0.8612 0.8561 0.7823 0.8581 0.8943 0.8579 0.6985 0.88 0.85 0.9 0.73 0.85 rs2236729 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8506 0.8583 0.8590 0.8389 0.7803 0.8507 0.8987 0.8668 0.7033 0.8676 0.8626 0.8756 0.8633 0.7952 0.8453 0.8835 0.8635 hom 3459.06 109 22 22842957 . T G 3459.06 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.314;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.84;MQ0=0;MQRankSum=0.802;QD=31.73;ReadPosRankSum=0.282;VQSLOD=9.5475;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,107:109:99:3459,268,0 22 22843118 22843118 C T exonic ZNF280B synonymous SNV ZNF280B:NM_080764:exon4:c.G606A:p.S202S 0.75 0.66 0.85 0.74 0.87 0.66 0.8054 0.6828 0.8293 0.7558 0.8394 0.8580 0.8216 0.6645 0.8 0.68 0.86 0.64 0.84 rs2236730 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8089 0.6780 0.8281 0.8179 0.7557 0.8327 0.8616 0.8201 0.6696 0.7946 0.6842 0.8369 0.8411 0.7758 0.8226 0.8483 0.8340 hom 6598.17 206 22 22843118 . C T 6598.17 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.59;MQ0=0;QD=32.03;VQSLOD=8.6256;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6597,521,0 22 22869123 22869123 T C exonic ZNF280A nonsynonymous SNV ZNF280A:NM_080740:exon2:c.A832G:p.N278D 0.47 0.24 0.73 0.41 0.7 0.43 0.6102 0.3023 0.7303 0.4392 0.7262 0.6849 0.6674 0.4584 0.55 0.31 0.68 0.29 0.69 rs362003 COSM4002102 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6243 0.2941 0.7198 0.6747 0.4383 0.7257 0.6874 0.6502 0.4654 0.5669 0.3039 0.7332 0.6887 0.4407 0.7302 0.6773 0.6680 het 2946.74 230 22 22869123 . T C 2946.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.423;DP=230;DS;Dels=0.00;FS=2.943;HRun=0;HaplotypeScore=12.6522;MQ=58.59;MQ0=0;MQRankSum=0.304;QD=12.81;ReadPosRankSum=0.659;VQSLOD=2.6682;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,116:230:99:2977,0,3198 22 22869209 22869209 C G exonic ZNF280A nonsynonymous SNV ZNF280A:NM_080740:exon2:c.G746C:p.G249A 0.47 0.24 0.73 0.41 0.7 0.43 0.6102 0.3019 0.7300 0.4386 0.7260 0.6847 0.6674 0.4592 0.55 0.31 0.68 0.3 0.69 rs362124 COSM4002103 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6242 0.2939 0.7197 0.6738 0.4379 0.7255 0.6872 0.6503 0.4663 0.5632 0.3016 0.7295 0.6887 0.4369 0.7290 0.6727 0.6636 het 3983.09 241 22 22869209 . C G 3983.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.291;DP=241;DS;Dels=0.00;FS=0.476;HRun=2;HaplotypeScore=7.2838;MQ=59.65;MQ0=0;MQRankSum=0.707;QD=16.53;ReadPosRankSum=-0.781;VQSLOD=3.4396;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,122:241:99:3389,0,3177 22 22869218 22869218 T C exonic ZNF280A nonsynonymous SNV ZNF280A:NM_080740:exon2:c.A737G:p.N246S 0.47 0.24 0.73 0.41 0.7 0.43 0.6103 0.3020 0.7301 0.4387 0.7260 0.6847 0.6674 0.4592 0.55 0.31 0.68 0.29 0.68 rs362132 COSM4002104 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6242 0.2939 0.7197 0.6738 0.4379 0.7255 0.6872 0.6501 0.4663 0.5632 0.3016 0.7295 0.6887 0.4370 0.7289 0.6729 0.6636 het 4184.12 244 22 22869218 . T C 4184.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.145;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5471;MQ=59.55;MQ0=0;MQRankSum=-0.346;QD=17.15;ReadPosRankSum=-1.494;VQSLOD=3.5940;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,128:244:99:3566,0,2989 22 22869538 22869538 A G exonic ZNF280A synonymous SNV ZNF280A:NM_080740:exon2:c.T417C:p.D139D 0.47 0.24 0.73 0.41 0.7 0.43 0.6091 0.3003 0.7289 0.4373 0.7264 0.6832 0.6659 0.4588 0.55 0.31 0.68 0.29 0.69 rs361611 COSM4002105 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6227 0.2928 0.7184 0.6736 0.4371 0.7248 0.6850 0.6493 0.4658 0.5590 0.2994 0.7226 0.68 0.4276 0.7292 0.6671 0.6653 het 989.08 112 22 22869538 . A G 989.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.192;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=56.41;MQ0=0;MQRankSum=-0.308;QD=8.83;ReadPosRankSum=0.991;VQSLOD=4.9479;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:74,38:112:99:1019,0,1956 22 22869649 22869649 G C exonic ZNF280A synonymous SNV ZNF280A:NM_080740:exon2:c.C306G:p.P102P 0.62 0.66 0.8 0.44 0.75 0.47 0.6826 0.6751 0.7677 0.4648 0.7632 0.7301 0.7225 0.5152 0.7 0.67 0.72 0.49 0.73 rs361721 COSM4002108 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6894 0.6728 0.7624 0.6988 0.4624 0.7636 0.7341 0.7155 0.5218 0.7028 0.6705 0.7926 0.72 0.4622 0.7733 0.7247 0.7169 het 1552.33 184 22 22869649 . G C 1552.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=58.45;MQ0=0;MQRankSum=-0.319;QD=8.44;ReadPosRankSum=-0.083;VQSLOD=6.0536;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:118,66:184:99:1582,0,3088 22 22869742 22869742 C A exonic ZNF280A nonsynonymous SNV ZNF280A:NM_080740:exon2:c.G213T:p.K71N 0.47 0.24 0.73 0.41 0.7 0.43 0.6101 0.3022 0.7304 0.4398 0.7268 0.6842 0.6674 0.4594 0.55 0.31 0.68 0.3 0.69 rs361959 COSM4002109 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6240 0.2940 0.7198 0.6746 0.4389 0.7258 0.6866 0.6503 0.4663 0.5676 0.3040 0.7333 0.6921 0.4425 0.7308 0.6780 0.6680 het 1702.32 159 22 22869742 . C A 1702.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.270;DP=159;Dels=0.00;FS=0.623;HRun=1;HaplotypeScore=2.7447;MQ=59.33;MQ0=0;MQRankSum=-1.486;QD=10.71;ReadPosRankSum=-0.565;VQSLOD=5.0791;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:90,69:159:99:1732,0,2527 22 22893394 22893394 A T exonic PRAME nonsynonymous SNV PRAME:NM_001291719:exon2:c.T91A:p.L31M,PRAME:NM_001318126:exon2:c.T91A:p.L31M,PRAME:NM_001318127:exon2:c.T91A:p.L31M,PRAME:NM_001291715:exon3:c.T139A:p.L47M,PRAME:NM_001291716:exon3:c.T139A:p.L47M,PRAME:NM_001291717:exon3:c.T91A:p.L31M,PRAME:NM_206953:exon3:c.T139A:p.L47M,PRAME:NM_006115:exon4:c.T139A:p.L47M,PRAME:NM_206954:exon4:c.T139A:p.L47M,PRAME:NM_206955:exon4:c.T139A:p.L47M,PRAME:NM_206956:exon4:c.T139A:p.L47M 0.0064 0.0023 0.0072 . 0.021 0.0031 0.0209 0.0059 0.0053 0 0.0265 0.0320 0.0223 0.0051 0.025 0.0066 0.034 . 0.049 rs41310248 COSM3759072 2(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.098 0.481 T 0.967 0.544 D 0.77 0.550 P 0.234 0.035 N 1 0.090 N 0.975 0.246 L 3.56 0.047 T 0.47 0.039 N 0.038 0.341 -0.989 0.328 T 0.033 0.143 T . . . -0.420 0.060 0.346 0.977 0.350 0.035 0.086 N c -0.967 -1.186 1.000 0.747 0.554 0.246 0 -5.92 0.021 -2.443 0.011 -1.271 0.014 0.000 0.063 0.569 0.283 5.192 0.144 . . . 0.0208 0.0054 0.0072 0.0429 0 0.0307 0.0306 0.0213 0.0050 0.0230 0.0058 0.0084 0.0570 0 0.0230 0.0357 0.0237 het 1839.28 140 22 22893394 . A T 1839.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.244;DP=140;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=4.4452;MQ=59.24;MQ0=0;MQRankSum=0.495;QD=13.14;ReadPosRankSum=-0.477;VQSLOD=5.3120;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,67:140:99:1869,0,1981 22 22899234 22899234 A G exonic PRAME nonsynonymous SNV PRAME:NM_001291715:exon2:c.T19C:p.W7R,PRAME:NM_001291716:exon2:c.T19C:p.W7R,PRAME:NM_206953:exon2:c.T19C:p.W7R,PRAME:NM_006115:exon3:c.T19C:p.W7R,PRAME:NM_206954:exon3:c.T19C:p.W7R,PRAME:NM_206955:exon3:c.T19C:p.W7R,PRAME:NM_206956:exon3:c.T19C:p.W7R 0.71 0.76 0.69 0.75 0.59 0.72 0.6448 0.7265 0.7475 0.7489 0.6580 0.5828 0.6596 0.7087 0.63 0.74 0.57 0.69 0.63 rs1129172 COSM85675 1(breast);19(soft_tissue);1(prostate);1(lung);1(large_intestine) . . . . . . . . . . . 0.897 0.025 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0.345 0.112 N 2.87 0.104 T 0.51 0.035 N 0.033 0.463 -0.984 0.340 T 0.000 0.000 T . . . -0.764 0.042 0.052 0.685 0.084 0.008 0.032 N c -1.165 -1.094 1.000 0.517 0.554 0.283 0 2.78 0.316 0.497 0.221 -0.025 0.128 0.299 0.251 0.001 0.043 5.900 0.181 . . . 0.6466 0.7313 0.7373 0.5650 0.7435 0.6613 0.5809 0.6293 0.7074 0.6420 0.7206 0.7224 0.5199 0.7241 0.6602 0.5825 0.6166 het 2449.64 243 22 22899234 . A G 2449.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.230;DP=243;DS;Dels=0.00;FS=0.492;HRun=0;HaplotypeScore=3.6555;MQ=59.29;MQ0=0;MQRankSum=-0.224;QD=10.08;ReadPosRankSum=-0.217;VQSLOD=5.4902;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:146,96:243:99:2480,0,3906 22 22989256 22989256 A G exonic GGTLC2 nonsynonymous SNV GGTLC2:NM_199127:exon2:c.A209G:p.E70G,GGTLC2:NM_001282879:exon3:c.A209G:p.E70G 0.95 1. 0.95 1. 0.85 0.96 0.8959 0.9730 0.9484 0.9998 0.8739 0.8517 0.8917 0.9433 0.88 0.97 0.83 0.065 0.57 rs2904923 COSM1130493 1(skin);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.195 P -4.59 0.000 N 6.35 0.006 T 7.63 0.000 N 0.056 0.039 -0.925 0.449 T 0.000 0.000 T . . . -0.788 0.041 0.046 0.608 0.064 0.002 0.010 N c -1.687 -1.530 0.044 0.146 0.554 0.246 0 . . 4.381 0.591 -1.393 0.012 1.000 0.715 0.032 0.149 2.665 0.047 Nucleophile aminohydrolases\x2c N-terminal . . 0.9016 0.9759 0.9421 0.8279 0.9995 0.8809 0.8606 0.8956 0.9483 0.8976 0.9708 0.9337 0.8311 0.9994 0.8779 0.8497 0.8648 hom 7589.03 250 22 22989256 . A G 7589.03 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4809;MQ=43.52;MQ0=9;QD=30.36;VQSLOD=2.4226;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7587,640,0 22 23482483 23482483 G A exonic RSPH14 nonsynonymous SNV RSPH14:NM_014433:exon2:c.C125T:p.T42M 0.083 0.018 0.088 0.039 0.15 0.14 0.1260 0.0340 0.0790 0.0346 0.1591 0.1510 0.1391 0.1497 0.12 0.036 0.16 0.065 0.12 rs35211242 COSM5034171 1(skin) . . . . . . . . . . . 0.008 0.912 D 1.0 0.899 D 0.999 0.916 D 0.001 0.401 N 0.004 0.432 P 2.985 0.859 M 2.19 0.527 T -3.98 0.812 D 0.207 0.565 -1.026 0.219 T 0.002 0.005 T . . . 3.934 0.530 23.5 0.997 0.820 0.637 0.319 D c 0.227 0.052 1.000 0.747 0.554 0.283 0 3.89 0.439 2.109 0.412 0.953 0.551 0.992 0.373 0.097 0.188 10.896 0.460 Armadillo-like helical|Armadillo-type fold ENSG00000186716.15 Skin_Sun_Exposed_Lower_leg 0.1247 0.0316 0.0784 0.1352 0.0343 0.1582 0.1502 0.1266 0.1521 0.1140 0.0354 0.0979 0.1391 0.0377 0.1591 0.1556 0.1469 het 926.98 79 22 23482483 . G A 926.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.869;DP=79;Dels=0.00;FS=1.883;HRun=0;HaplotypeScore=1.8835;MQ=59.29;MQ0=0;MQRankSum=-0.957;QD=11.73;ReadPosRankSum=-0.437;VQSLOD=6.1482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,38:79:99:957,0,1112 22 23503170 23503170 A G exonic RAB36 nonsynonymous SNV RAB36:NM_001349878:exon10:c.A902G:p.Q301R,RAB36:NM_004914:exon10:c.A922G:p.N308D,RAB36:NM_001349877:exon11:c.A994G:p.N332D 0.56 0.53 0.47 0.64 0.51 0.61 0.5218 0.5396 0.5120 0.6404 0.4326 0.4956 0.5134 0.5980 0.51 0.55 0.5 0.61 0.41 rs5759612 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.035 0.247 N 1 0.090 P -2.015 0.002 N -0.02 0.629 T 1.17 0.011 N 0.01 0.001 -0.911 0.468 T 0.000 0.000 T . . . 0.441 0.136 6.959 0.680 0.083 0.014 0.047 N c -1.127 -0.898 0.975 0.295 0.615 0.372 0 3.59 0.401 0.706 0.252 0.138 0.222 0.007 0.175 0.846 0.353 9.911 0.404 P-loop containing nucleoside triphosphate hydrolase ENSG00000186716.15|ENSG00000186716.15|ENSG00000186716.15|ENSG00000186716.15 Artery_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5163 0.5376 0.5063 0.4908 0.6451 0.4314 0.4950 0.5017 0.5937 0.5082 0.5428 0.4665 0.5 0.6720 0.4330 0.4911 0.4969 het 1335.38 105 22 23503170 . A G 1335.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.341;DP=105;Dels=0.00;FS=6.514;HRun=0;HaplotypeScore=1.8401;MQ=59.78;MQ0=0;MQRankSum=0.546;QD=12.72;ReadPosRankSum=-0.715;VQSLOD=5.3055;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,53:105:99:1365,0,1321 22 23503756 23503756 G A exonic RAB36 synonymous SNV RAB36:NM_001349878:exon11:c.G987A:p.G329G 0.56 0.53 0.47 0.64 0.51 0.61 0.5420 0.5575 0.5344 0.6493 0.4700 0.5170 0.5451 0.6051 0.51 0.54 0.5 0.55 0.37 rs737818 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5169 0.5385 0.5043 0.4913 0.6437 0.4341 0.4945 0.5034 0.5938 0.5080 0.5425 0.4654 0.5 0.6706 0.4327 0.4914 0.4959 het 198.33 24 22 23503756 . G A 198.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.704;DP=24;Dels=0.00;FS=1.756;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=-0.276;QD=8.26;ReadPosRankSum=-1.133;VQSLOD=5.7816;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,8:24:99:228,0,506 22 23627369 23627369 A G exonic BCR nonsynonymous SNV BCR:NM_004327:exon10:c.A2387G:p.N796S,BCR:NM_021574:exon10:c.A2387G:p.N796S 0.79 0.95 0.86 0.54 0.87 0.72 0.8186 0.9360 0.8055 0.5378 0.8476 0.8560 0.8228 0.7336 0.88 0.94 0.85 0.8 0.62 rs140504 COSM3759076 1(breast);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.003 0.080 B 0.000 0.497 N 0.996 0.231 P -0.975 0.012 N 1.85 0.245 T 0.79 0.020 N 0.004 0.000 -0.964 0.383 T 0.000 0.000 T . . . 0.337 0.126 6.042 0.804 0.127 0.098 0.153 N c -1.126 -0.940 1.000 0.428 0.672 0.522 0 1.63 0.228 0.216 0.172 -0.725 0.036 0.021 0.196 0.908 0.386 8.956 0.348 Pleckstrin homology domain . . 0.8145 0.9381 0.8172 0.8771 0.5223 0.8468 0.8524 0.8235 0.7311 0.8471 0.9315 0.8496 0.8974 0.5118 0.8400 0.8363 0.8176 het 608.40 43 22 23627369 . A G 608.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.653;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.92;MQ0=0;MQRankSum=0.844;QD=14.15;ReadPosRankSum=0.599;VQSLOD=6.6177;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:19,24:43:99:638,0,517 22 24034288 24034288 A G exonic RGL4 nonsynonymous SNV RGL4:NM_001329424:exon1:c.A71G:p.Q24R,RGL4:NM_153615:exon1:c.A71G:p.Q24R 0.55 0.44 0.62 0.61 0.53 0.61 0.5559 0.4462 0.6617 0.5984 0.6113 0.5212 0.5628 0.6464 0.49 0.45 0.52 0.56 0.4 rs738786 COSM4156036 2(thyroid) . . . . . . . . . . . 1.0 0.025 T 0.618 0.390 P 0.027 0.428 B 0.060 0.223 U 1 0.090 P 1.04 0.263 L 1.56 0.296 T 0.13 0.055 N 0.033 0.117 -0.965 0.382 T 0.000 0.000 T . . . 2.345 0.343 18.46 0.942 0.239 0.046 0.101 N c -0.969 -1.094 0.745 0.232 0.660 0.495 0 -0.665 0.108 0.003 0.129 -0.272 0.086 0.281 0.249 0.001 0.043 2.363 0.040 . ENSG00000272578.1|ENSG00000272578.1|ENSG00000272578.1|ENSG00000272578.1|ENSG00000272578.1|ENSG00000159496.10|ENSG00000159496.10|ENSG00000272578.1|ENSG00000272578.1|ENSG00000159496.10|ENSG00000244723.3 Brain_Cerebellum|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood|Whole_Blood 0.5632 0.4420 0.6545 0.5374 0.6050 0.6051 0.5166 0.5569 0.6478 0.5203 0.4444 0.6110 0.5364 0.6196 0.6065 0.5264 0.5470 het 1381.32 121 22 24034288 . A G 1381.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.408;DP=121;Dels=0.00;FS=2.353;HRun=3;HaplotypeScore=8.5122;MQ=58.72;MQ0=0;MQRankSum=1.096;QD=11.42;ReadPosRankSum=-1.180;VQSLOD=4.4285;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,56:121:99:1411,0,1712 22 24035970 24035970 C T exonic RGL4 nonsynonymous SNV RGL4:NM_001329424:exon4:c.C721T:p.H241Y,RGL4:NM_153615:exon4:c.C721T:p.H241Y 0.77 0.96 0.77 0.67 0.7 0.71 0.7289 0.9255 0.7666 0.6597 0.6980 0.7032 0.7217 0.7315 0.78 0.93 0.71 0.85 0.7 rs2070446 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.003 0.093 B 0.502 0.051 N 1 0.090 P -0.89 0.014 N 1.58 0.291 T 2.44 0.003 N 0.02 0.088 -1.002 0.294 T 0.000 0.000 T . . . -1.609 0.014 0.002 0.569 0.055 0.016 0.051 N c -1.407 -1.357 0.999 0.371 0.745 0.986 0 -1.06 0.094 1.771 0.379 -0.573 0.046 0.998 0.411 0.000 0.016 8.453 0.319 Ras guanine nucleotide exchange factor domain|Ras guanine-nucleotide exchange factors catalytic domain ENSG00000189269.8|ENSG00000272733.1|ENSG00000189269.8|ENSG00000189269.8|ENSG00000272733.1|ENSG00000189269.8|ENSG00000189269.8|ENSG00000211683.3|ENSG00000272733.1|ENSG00000272578.1|ENSG00000189269.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.7281 0.9293 0.7674 0.7894 0.6646 0.6961 0.6984 0.7308 0.7320 0.7603 0.9259 0.7434 0.7781 0.6824 0.6995 0.6923 0.6803 hom 3518.97 106 22 24035970 . C T 3518.97 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9858;MQ=59.37;MQ0=0;QD=33.20;VQSLOD=9.8358;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3519,268,0 22 24038847 24038847 T C exonic RGL4 nonsynonymous SNV RGL4:NM_001329424:exon7:c.T1133C:p.V378A,RGL4:NM_153615:exon7:c.T1133C:p.V378A 0.77 0.92 0.76 0.7 0.68 0.73 0.7166 0.8886 0.7563 0.6712 0.6758 0.6866 0.7125 0.7413 0.76 0.89 0.69 0.84 0.4 rs1007298 COSM1599892 2(urinary_tract);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.610 0.109 N 1.000 0.090 P -1.595 0.004 N 1.59 0.288 T 2.04 0.004 N 0.025 0.109 -0.997 0.307 T 0.000 0.000 T . . . -1.150 0.027 0.008 0.880 0.170 0.002 0.013 N c -1.501 -1.386 1.000 0.747 0.503 0.197 0 -0.409 0.117 0.872 0.275 -0.157 0.107 0.990 0.367 0.041 0.157 3.170 0.061 Ras guanine nucleotide exchange factor domain|Ras guanine-nucleotide exchange factors catalytic domain ENSG00000272733.1|ENSG00000272578.1|ENSG00000272733.1|ENSG00000211683.3|ENSG00000272578.1|ENSG00000189269.8|ENSG00000272733.1 Adipose_Subcutaneous|Brain_Cerebellum|Esophagus_Muscularis|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.7155 0.8907 0.7599 0.7663 0.6745 0.6710 0.6816 0.7175 0.7409 0.7374 0.8860 0.7398 0.7616 0.6969 0.6755 0.6728 0.6739 hom 1200.35 44 22 24038847 . T C 1200.35 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8332;MQ=60.00;MQ0=0;QD=27.28;VQSLOD=7.1029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:93.28:1233,93,0 22 24086107 24086107 A G exonic ZNF70 synonymous SNV ZNF70:NM_021916:exon2:c.T1221C:p.I407I 0.56 0.79 0.4 0.69 0.36 0.42 0.4259 0.7449 0.4096 0.6905 0.3700 0.3624 0.3987 0.3782 0.49 0.74 0.36 0.62 0.5 rs5759985 COSM3759079 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4182 0.7507 0.4028 0.3568 0.6853 0.3734 0.3627 0.3866 0.3793 0.4850 0.7468 0.4093 0.3543 0.6716 0.3748 0.3514 0.3857 het 2932.05 231 22 24086107 . A G 2932.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.800;DP=231;Dels=0.00;FS=7.264;HRun=0;HaplotypeScore=4.3969;MQ=59.72;MQ0=0;MQRankSum=-0.976;QD=12.69;ReadPosRankSum=-1.375;VQSLOD=4.2535;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,116:231:99:2962,0,3278 22 24108412 24108412 G A exonic CHCHD10 synonymous SNV CHCHD10:NM_001301339:exon3:c.C333T:p.Y111Y,CHCHD10:NM_213720:exon3:c.C312T:p.Y104Y 0.73 0.75 0.85 0.66 0.84 0.57 0.7766 0.7629 0.8105 0.6365 0.8352 0.8267 0.7740 0.6169 0.81 0.75 0.83 0.8 0.72 rs9153 COSM3766695 1(haematopoietic_and_lymphoid_tissue);2(liver);2(thyroid) Benign not_specified RCV000422642.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . 0.978 0.810 P . . . . . . -6.0 0.895 D . . -1.003 0.290 T 0.000 0.000 T . . . 0.680 0.159 8.692 0.955 0.265 0.278 0.232 N c -0.490 -0.564 1.000 0.747 0.767 0.994 0 -5.17 0.026 0.094 0.148 -0.687 0.038 0.851 0.302 0.987 0.523 13.858 0.629 . ENSG00000128218.7|ENSG00000128218.7|ENSG00000128218.7|ENSG00000128218.7|ENSG00000128218.7|ENSG00000128218.7|ENSG00000128218.7|ENSG00000128218.7|ENSG00000099956.13|ENSG00000099956.13|ENSG00000128218.7|ENSG00000099958.10|ENSG00000099956.13|ENSG00000099956.13|ENSG00000128218.7|ENSG00000128218.7|ENSG00000099956.13 Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.7792 0.7598 0.8098 0.8410 0.6227 0.8319 0.8285 0.7989 0.6088 0.7979 0.7706 0.8084 0.84 0.6156 0.8337 0.8249 0.7760 het 258.82 21 22 24108412 . G A 258.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.514;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=60.00;MQ0=0;MQRankSum=-0.246;QD=12.32;ReadPosRankSum=0.599;VQSLOD=6.4140;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,10:21:99:289,0,313 22 24121378 24121378 C T exonic MMP11 nonsynonymous SNV MMP11:NM_005940:exon2:c.C113T:p.A38V 0.71 0.49 0.85 0.7 0.93 0.68 0.8455 0.6068 0.8238 0.7176 0.9434 0.9167 0.85 0.7485 0.8 0.58 0.92 0.69 0.49 rs738792 COSM1751756 1(urinary_tract);1(thyroid);9(large_intestine) . . . . . . . . . . . 0.33 0.131 T 0.099 0.241 B 0.025 0.193 B 0.000 0.002 N 1 0.090 P 0.805 0.203 L 2.59 0.133 T -0.27 0.114 N 0.035 0.044 -0.974 0.363 T 0.000 0.000 T . . . 0.834 0.173 9.671 0.921 0.209 0.080 0.138 N c -1.039 -1.051 1.000 0.517 0.646 0.450 0 0.812 0.178 0.355 0.198 -0.080 0.119 0.000 0.063 0.002 0.062 8.361 0.313 . . . 0.8388 0.5505 0.8203 0.8673 0.6932 0.9369 0.9178 0.8596 0.7330 0.8102 0.5779 0.8413 0.8960 0.6978 0.9279 0.9223 0.8712 het 236.52 26 22 24121378 . C T 236.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.297;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5281;MQ=59.11;MQ0=0;MQRankSum=0.778;QD=9.10;ReadPosRankSum=-0.415;VQSLOD=6.4478;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,11:26:99:267,0,402 22 24179922 24179922 G C exonic DERL3 nonsynonymous SNV DERL3:NM_001002862:exon5:c.C447G:p.F149L,DERL3:NM_001135751:exon5:c.C447G:p.F149L,DERL3:NM_198440:exon5:c.C447G:p.F149L 0.13 0.26 0.14 0.016 0.14 0.03 0.1350 0.2567 0.0749 0.0148 0.1573 0.1635 0.1474 0.0417 0.19 0.26 0.16 0.18 0.2 rs3177243 COSM1130487 1(prostate) . . . . . . . . . . . 0.049 0.419 D 0.058 0.315 B 0.105 0.371 B 0.000 0.629 D 0.000 0.810 P 2.045 0.562 M 1.54 0.301 T -5.2 0.837 D 0.448 0.559 -1.062 0.111 T 0.000 0.000 T . . . 4.597 0.616 24.4 0.997 0.804 0.938 0.589 D c 0.216 0.317 1.0 0.983 0.767 0.994 0 5.27 0.737 4.003 0.565 1.048 0.713 1.000 0.715 0.612 0.291 18.322 0.901 . ENSG00000189269.8|ENSG00000211683.3|ENSG00000272733.1|ENSG00000189269.8|ENSG00000189269.8|ENSG00000272733.1|ENSG00000211683.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial|Thyroid 0.1289 0.2574 0.0782 0.1441 0.0143 0.1570 0.1602 0.1523 0.0422 0.1749 0.2653 0.0990 0.1987 0.0105 0.1517 0.1504 0.1557 het 287.65 44 22 24179922 . G C 287.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.441;DP=44;Dels=0.00;FS=5.195;HRun=0;HaplotypeScore=2.7470;MQ=59.15;MQ0=0;MQRankSum=0.214;QD=6.54;ReadPosRankSum=-0.013;VQSLOD=3.7826;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,14:44:99:318,0,863 22 24226890 24226890 G A exonic SLC2A11 nonsynonymous SNV SLC2A11:NM_001024938:exon12:c.G1345A:p.A449T,SLC2A11:NM_001024939:exon12:c.G1354A:p.A452T,SLC2A11:NM_030807:exon13:c.G1366A:p.A456T 0.03 0.062 0.042 . 0.032 0.0061 0.0248 0.0480 0.0219 0.0001 0.0271 0.0288 0.0341 0.0072 0.035 0.047 0.029 0.087 0.041 rs60699980 . . . . . . . . . . . . . 0.087 0.324 T 0.996 0.670 D 0.948 0.703 D 0.001 0.401 N 0.581 0.324 D 1.005 0.253 L -0.73 0.731 T -2.2 0.495 N 0.162 0.195 -0.942 0.424 T 0.011 0.044 T . . . 4.937 0.664 25.0 0.993 0.602 0.893 0.493 D c -0.298 -0.362 0.272 0.189 0.646 0.450 0 1.12 0.196 4.147 0.576 -0.015 0.131 0.999 0.424 0.922 0.397 8.756 0.336 Major facilitator superfamily domain ENSG00000099977.9|ENSG00000099984.6|ENSG00000099977.9|ENSG00000272955.1|ENSG00000235231.3|ENSG00000099984.6|ENSG00000272955.1|ENSG00000099984.6|ENSG00000184674.8|ENSG00000099977.9|ENSG00000235231.3|ENSG00000272955.1 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Thyroid|Whole_Blood 0.0247 0.0467 0.0242 0.0501 5.798e-05 0.0242 0.0276 0.0372 0.0074 0.0305 0.0427 0.0203 0.0430 0 0.0261 0.0287 0.0204 het 2228.29 222 22 24226890 . G A 2228.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.455;DP=222;DS;Dels=0.00;FS=2.532;HRun=0;HaplotypeScore=6.8047;MQ=59.48;MQ0=0;MQRankSum=0.952;QD=10.04;ReadPosRankSum=0.143;VQSLOD=4.3245;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:129,92:222:99:2258,0,3554 22 24459438 24459438 T C exonic CABIN1 synonymous SNV CABIN1:NM_001201429:exon13:c.T1563C:p.C521C,CABIN1:NM_001199281:exon14:c.T1713C:p.C571C,CABIN1:NM_012295:exon14:c.T1713C:p.C571C 0.93 1. 0.89 0.92 0.94 0.87 0.9333 0.9883 0.9287 0.9074 0.9143 0.9405 0.9361 0.8944 0.96 0.99 0.94 0.95 0.97 rs762273 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9313 0.9897 0.9304 0.9304 0.9076 0.9181 0.9405 0.9357 0.8922 0.9445 0.9900 0.9308 0.9536 0.9197 0.9215 0.9279 0.9235 hom 8448.76 250 22 24459438 . T C 8448.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.915;DP=250;DS;Dels=0.00;FS=4.447;HRun=2;HaplotypeScore=6.6592;MQ=59.81;MQ0=0;MQRankSum=-0.568;QD=33.80;ReadPosRankSum=0.236;VQSLOD=4.1431;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:8412,626,0 22 24487739 24487739 G A exonic CABIN1 nonsynonymous SNV CABIN1:NM_001201429:exon23:c.G3578A:p.R1193H,CABIN1:NM_001199281:exon24:c.G3728A:p.R1243H,CABIN1:NM_012295:exon24:c.G3728A:p.R1243H 0.008 0.0015 0.0072 . 0.033 . 0.0178 0.0035 0.0038 0 0.0856 0.0216 0.0201 0.0032 0.013 0.003 0.018 . . rs117908385 . . . . . . . . . . . . . 0.005 0.632 D 1.0 0.899 D 0.938 0.656 D 0.000 0.843 D 1 0.810 D 1.905 0.510 L 1.54 0.301 T -2.58 0.556 D 0.351 0.446 -1.040 0.174 T 0.049 0.207 T . . . 7.316 0.948 34 0.999 0.998 0.978 0.770 D c 0.735 0.729 1.0 0.983 0.707 0.730 0 5.04 0.672 8.044 0.891 0.978 0.596 1.000 0.715 1.000 0.888 17.821 0.885 Tetratricopeptide-like helical domain . . 0.0195 0.0033 0.0061 0.0102 5.805e-05 0.0877 0.0205 0.0181 0.0032 0.0239 0.0041 0.0060 0.0099 0.0006 0.0926 0.0226 0.0316 het 2016.77 129 22 24487739 . G A 2016.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.062;DP=129;Dels=0.00;FS=2.315;HRun=0;HaplotypeScore=5.6891;MQ=59.53;MQ0=0;MQRankSum=1.298;QD=15.63;ReadPosRankSum=0.532;VQSLOD=4.0566;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:51,78:129:99:2047,0,1315 22 24717850 24717850 A G exonic SPECC1L nonsynonymous SNV SPECC1L:NM_001145468:exon4:c.A902G:p.D301G,SPECC1L:NM_001254732:exon4:c.A902G:p.D301G,SPECC1L:NM_015330:exon5:c.A902G:p.D301G 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 0.9994 1 1 1 1 . . . 1. 1. rs204710 COSM4590569 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9999 1.0000 1 0.9994 1 1 1 1 0.9999 0.9999 1 1 0.9988 1 0.9999 1 hom 6494.91 195 22 24717850 . A G 6494.91 Mask AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4108;MQ=59.31;MQ0=0;QD=33.31;VQSLOD=9.0667;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:195:99:6494,506,0 22 24761467 24761467 G A exonic SPECC1L nonsynonymous SNV SPECC1L:NM_001254733:exon5:c.G49A:p.V17M,SPECC1L:NM_001145468:exon12:c.G2851A:p.V951M,SPECC1L:NM_001254732:exon12:c.G2851A:p.V951M,SPECC1L:NM_015330:exon13:c.G2851A:p.V951M 1. 1. 1. 1. 1. 1. 0.9999 1 1 0.9991 1 1 1 1 . . . 1. 1. rs204718 COSM4591418 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.684 0.046 T 0.0 0.026 B 0.0 0.013 B 0.000 0.460 N 1.000 0.090 P -1.32 0.007 N 0.31 0.586 T 0.61 0.026 N 0.153 0.182 -1.004 0.286 T 0.000 0.000 T . . . 2.240 0.330 17.77 0.906 0.193 0.119 0.167 N c -0.651 -0.429 0.215 0.183 0.732 0.924 0 3.35 0.373 1.836 0.386 0.126 0.213 1.000 0.715 0.998 0.697 5.599 0.165 . . . 0.9999 1 1 1 0.9991 1 1 1 1 0.9999 1 1 1 0.9981 1 1 1 hom 4120.29 120 22 24761467 . G A 4120.29 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.0130;MQ=57.97;MQ0=0;QD=34.34;VQSLOD=5.9778;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:4120,337,0 22 24837301 24837301 T C exonic ADORA2A synonymous SNV ADORA2A:NM_000675:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278498:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278499:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278500:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278497:exon4:c.T1083C:p.Y361Y 0.44 0.32 0.54 0.47 0.61 0.34 0.5453 0.3665 0.6138 0.5103 0.5719 0.5982 0.5599 0.3799 0.52 0.36 0.6 0.46 0.49 rs5751876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5441 0.3538 0.6073 0.5885 0.5074 0.5667 0.6001 0.5740 0.3555 0.5283 0.3718 0.6184 0.5464 0.4808 0.5732 0.6065 0.5616 het 533.28 37 22 24837301 . T C 533.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.701;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7306;MQ=58.99;MQ0=0;MQRankSum=-0.015;QD=14.41;ReadPosRankSum=0.966;VQSLOD=6.0662;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,21:37:99:563,0,411 22 24964128 24964128 T C exonic SNRPD3 synonymous SNV SNRPD3:NM_001278656:exon3:c.T303C:p.A101A,SNRPD3:NM_004175:exon3:c.T303C:p.A101A 0.68 0.42 0.79 0.85 0.85 0.61 0.7827 0.4924 0.8055 0.8383 0.8474 0.8387 0.8091 0.6656 0.72 0.5 0.83 0.63 0.83 rs4597 COSM4156058;COSM4156059 1(kidney);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7900 0.4818 0.8019 0.8057 0.8481 0.8486 0.8400 0.7951 0.6679 0.7403 0.4885 0.8146 0.7616 0.8733 0.8483 0.8391 0.7918 hom 3724.73 114 22 24964128 . T C 3724.73 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=58.60;MQ0=0;QD=32.67;VQSLOD=9.8212;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3724,283,0 22 25119210 25119210 A C exonic PIWIL3 synonymous SNV PIWIL3:NM_001008496:exon19:c.T2271G:p.A757A,PIWIL3:NM_001255975:exon19:c.T2244G:p.A748A 0.08 0.068 0.055 0.089 0.047 0.14 0.0658 0.0689 0.0685 0.1036 0.0697 0.0471 0.0714 0.1154 0.055 0.065 0.05 0.11 0.09 rs56199175 COSM4419576 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0641 0.0664 0.0627 0.0127 0.1027 0.0709 0.0484 0.0522 0.1132 0.0605 0.0660 0.0477 0.0199 0.1017 0.0630 0.0541 0.0560 het 783.71 65 22 25119210 . A C 783.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.144;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2307;MQ=59.29;MQ0=0;MQRankSum=2.883;QD=12.06;ReadPosRankSum=0.099;VQSLOD=3.2031;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,31:65:99:814,0,901 22 25144912 25144912 C T exonic PIWIL3 nonsynonymous SNV PIWIL3:NM_001008496:exon12:c.G1411A:p.V471I,PIWIL3:NM_001255975:exon12:c.G1411A:p.V471I 0.2 0.13 0.38 0.15 0.21 0.22 0.2243 0.1451 0.4543 0.1621 0.2187 0.2163 0.2015 0.1815 0.19 0.15 0.21 0.16 0.32 rs11703684 COSM4419130 1(haematopoietic_and_lymphoid_tissue);5(soft_tissue) . . . . . . . . . . . 0.468 0.085 T 0.025 0.244 B 0.023 0.277 B 0.119 0.191 N 1 0.090 P 0.895 0.225 L 3.69 0.041 T -0.33 0.125 N 0.014 0.003 -0.925 0.449 T 0.000 0.000 T . . . -0.231 0.074 0.944 0.612 0.065 0.011 0.039 N c -1.209 -1.314 0.401 0.201 0.487 0.133 0 -3.89 0.039 -0.064 0.115 -0.209 0.100 0.567 0.272 0.008 0.104 4.288 0.102 Ribonuclease H-like domain . . 0.2329 0.1471 0.4347 0.1866 0.1600 0.2147 0.2180 0.2261 0.1806 0.1932 0.1483 0.3933 0.1921 0.1516 0.1943 0.2106 0.2235 het 761.37 85 22 25144912 . C T 761.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.009;DP=85;Dels=0.00;FS=2.955;HRun=1;HaplotypeScore=4.7463;MQ=58.34;MQ0=0;MQRankSum=1.365;QD=8.96;ReadPosRankSum=-0.286;VQSLOD=4.9013;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:53,32:85:99:791,0,1378 22 25145453 25145453 C T exonic PIWIL3 nonsynonymous SNV PIWIL3:NM_001008496:exon11:c.G1252A:p.V418M,PIWIL3:NM_001255975:exon11:c.G1252A:p.V418M 0.93 1. 0.89 0.94 0.9 0.87 0.8986 0.9807 0.8532 0.9369 0.8144 0.9048 0.8976 0.8674 0.94 0.98 0.92 0.97 0.89 rs1892723 . . . . . . . . . . . . . 1.0 0.010 T 0.006 0.126 B 0.003 0.080 B 0.000 0.843 N 1 0.090 P -3.155 0.000 N 3.3 0.064 T 3.46 0.001 N 0.021 0.232 -1.023 0.228 T 0.000 0.000 T . . . -1.124 0.028 0.009 0.036 0.000 0.002 0.014 N c -1.671 -1.485 0.845 0.249 0.487 0.133 0 1.74 0.235 1.872 0.390 -0.112 0.115 0.968 0.339 0.039 0.156 5.964 0.184 PAZ domain . . 0.8948 0.9821 0.8536 0.9447 0.9383 0.8148 0.9069 0.9041 0.8679 0.9153 0.9843 0.8628 0.9536 0.9438 0.8167 0.8995 0.8806 hom 2841.85 83 22 25145453 . C T 2841.85 Mask AC=2;AF=1.00;AN=2;DP=83;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=34.24;VQSLOD=9.9090;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2875,244,0 22 25145471 25145471 A G exonic PIWIL3 nonsynonymous SNV PIWIL3:NM_001008496:exon11:c.T1234C:p.C412R,PIWIL3:NM_001255975:exon11:c.T1234C:p.C412R 0.67 0.68 0.71 0.73 0.57 0.68 0.6206 0.6627 0.7104 0.7426 0.5230 0.5904 0.5898 0.6304 0.62 0.66 0.6 0.67 0.54 rs1892722 COSM3759090 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.004 0.345 N 1 0.090 P -3.335 0.000 N 3.45 0.053 T 6.59 0.000 N 0.016 0.225 -0.943 0.421 T 0.000 0.000 T . . . -1.596 0.015 0.002 0.159 0.004 0.000 0.004 N c -2.069 -1.992 0.996 0.346 0.487 0.133 0 -4.97 0.028 -0.289 0.083 -0.935 0.025 0.015 0.189 0.016 0.126 0.421 0.004 PAZ domain ENSG00000167037.14|ENSG00000184571.9 Skin_Sun_Exposed_Lower_leg|Testis 0.6225 0.6670 0.6921 0.6104 0.7378 0.5285 0.5953 0.6155 0.6306 0.6153 0.6642 0.6850 0.59 0.7485 0.5192 0.5940 0.5776 het 966.46 61 22 25145471 . A G 966.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.111;DP=61;Dels=0.00;FS=2.586;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.922;QD=15.84;ReadPosRankSum=-0.385;VQSLOD=5.8474;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,34:61:99:996,0,714 22 25601196 25601196 C G exonic CRYBB3 nonsynonymous SNV CRYBB3:NM_004076:exon5:c.C337G:p.H113D 0.66 0.42 0.73 0.93 0.64 0.7 0.6558 0.4547 0.7965 0.9282 0.5829 0.6275 0.6457 0.6850 0.58 0.47 0.63 0.61 0.61 rs9608378 COSM3733888 3(pancreas);1(large_intestine) Benign|Benign not_specified|Congenital_nuclear_cataract RCV000250899.1|RCV000318939.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0008024:C0158551 . . . . . . 0.834 0.029 T 0.0 0.026 B 0.0 0.013 B 0.001 0.395 N 0.988 0.810 P -1.775 0.003 N -0.77 0.735 T 4.41 0.000 N 0.051 0.032 -0.963 0.386 T 0.000 0.000 T . . . 0.820 0.172 9.585 0.750 0.106 0.080 0.138 N c -0.820 -0.590 0.995 0.340 0.554 0.246 0 5.3 0.746 7.239 0.775 0.133 0.217 1.000 0.715 0.276 0.233 14.878 0.700 Gamma-crystallin-related ENSG00000100053.5|ENSG00000100053.5|ENSG00000100053.5 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.6620 0.4506 0.7742 0.6814 0.9297 0.5843 0.6228 0.6616 0.6868 0.5842 0.4571 0.7267 0.6722 0.9330 0.5774 0.6117 0.5951 hom 3192.76 106 22 25601196 . C G 3192.76 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=30.12;VQSLOD=8.6822;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3226,247,0 22 25753231 25753231 G A exonic LRP5L synonymous SNV LRP5L:NM_182492:exon2:c.C429T:p.D143D,LRP5L:NM_001135772:exon4:c.C429T:p.D143D 0.42 0.26 0.28 0.41 0.55 0.61 0.4785 0.3097 0.2379 0.4028 0.4722 0.5242 0.4568 0.6122 0.46 0.31 0.53 0.41 0.53 rs133194 COSM3759093 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4729 0.3065 0.2526 0.5329 0.4022 0.4798 0.5296 0.4641 0.6085 0.4409 0.3090 0.2945 0.5364 0.3912 0.4859 0.5175 0.4609 hom 2360.85 85 22 25753231 . G A 2360.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.512;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=-0.631;QD=27.77;ReadPosRankSum=0.893;VQSLOD=7.1600;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:3,82:85:99:2394,126,0 22 26159289 26159289 G A exonic MYO18B nonsynonymous SNV MYO18B:NM_001318245:exon3:c.G131A:p.G44E,MYO18B:NM_032608:exon3:c.G131A:p.G44E 0.7 0.92 0.66 0.82 0.44 0.59 0.5433 0.8445 0.7366 0.8217 0.4413 0.4394 0.5360 0.5450 0.57 0.85 0.44 0.77 . rs133885 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.404 N 0.998 0.223 P -2.125 0.001 N -1.38 0.805 T 3.32 0.001 N 0.069 0.192 -0.942 0.423 T 0.000 0.000 T . . . 1.100 0.200 11.22 0.535 0.049 0.021 0.062 N c -0.914 -0.580 1.000 0.747 0.616 0.391 0 5.09 0.685 3.885 0.556 0.202 0.252 1.000 0.715 0.991 0.552 8.850 0.342 . . . 0.5480 0.8527 0.7198 0.5355 0.8224 0.4343 0.4384 0.5188 0.5461 0.5802 0.8419 0.6623 0.5367 0.8333 0.4200 0.4408 0.4744 hom 1477.28 50 22 26159289 . G A 1477.28 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=1;QD=29.55;VQSLOD=9.2578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1510,117,0 22 26164413 26164413 C T exonic MYO18B nonsynonymous SNV MYO18B:NM_001318245:exon4:c.C530T:p.P177L,MYO18B:NM_032608:exon4:c.C530T:p.P177L 0.17 0.024 0.19 0.3 0.077 0.31 0.1405 0.0333 0.2299 0.3123 0.1286 0.0862 0.1556 0.2679 0.061 0.026 0.077 0.15 . rs13058434 COSM3759094 1(large_intestine) . . . . . . . . . . . 0.144 0.252 T 0.005 0.139 B 0.002 0.093 B 0.417 0.046 N 1 0.090 P 0.55 0.145 N -2.04 0.859 D -0.8 0.221 N 0.029 0.058 -1.099 0.043 T 0.000 0.000 T . . . 0.670 0.158 8.631 0.630 0.069 0.068 0.126 N c -1.013 -0.992 0.997 0.350 0.487 0.133 0 3.08 0.344 0.747 0.258 0.049 0.161 0.000 0.063 0.000 0.016 6.537 0.214 . . . 0.1382 0.0273 0.2158 0.0746 0.3065 0.1243 0.0805 0.1109 0.2556 0.0902 0.0327 0.1595 0.0567 0.3187 0.1262 0.0864 0.1137 het 166.36 19 22 26164413 . C T 166.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.362;DP=19;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6383;MQ=56.25;MQ0=0;MQRankSum=-0.815;QD=8.76;ReadPosRankSum=0.634;VQSLOD=2.9187;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,7:19:99:196,0,312 22 26166900 26166900 G C exonic MYO18B nonsynonymous SNV MYO18B:NM_001318245:exon6:c.G1641C:p.W547C,MYO18B:NM_032608:exon6:c.G1641C:p.W547C 0.94 0.95 0.98 0.89 0.99 0.89 0.9579 0.9553 0.9793 0.9023 0.9944 0.9825 0.9766 0.9200 0.98 0.96 0.99 0.91 . rs3859866 COSM5428141 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.049 0.400 D 0.0 0.026 B 0.0 0.013 B 0.003 0.353 N 0.087 0.364 P -1.245 0.008 N -0.56 0.712 T 4.07 0.001 N 0.072 0.199 -0.952 0.406 T 0.000 0.000 T . . . 1.276 0.218 12.14 0.167 0.005 0.004 0.021 N c -1.313 -1.157 1.000 0.489 0.487 0.133 0 3.72 0.417 -0.053 0.117 0.038 0.153 0.012 0.185 0.972 0.466 5.685 0.170 P-loop containing nucleoside triphosphate hydrolase . . 0.9667 0.9513 0.9851 0.9767 0.8838 0.9938 0.9862 0.9784 0.9139 0.9730 0.9534 0.9857 0.9768 0.8844 0.9914 0.9891 0.9715 hom 441.56 15 22 26166900 . G C 441.56 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;QD=29.44;VQSLOD=8.6632;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:36.12:475,36,0 22 26173661 26173661 T C exonic MYO18B nonsynonymous SNV MYO18B:NM_001318245:exon8:c.T1981C:p.W661R,MYO18B:NM_032608:exon8:c.T1981C:p.W661R 0.93 0.93 0.99 0.88 0.99 0.89 0.9647 0.9429 0.9819 0.8795 0.9921 0.9853 0.9778 0.9149 0.97 0.94 0.99 0.88 . rs5761170 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.463 N 0.998 0.221 P . . . -2.18 0.867 D 5.89 0.000 N 0.031 0.043 -0.944 0.420 T 0.000 0.000 T . . . -1.452 0.018 0.003 0.302 0.016 0.226 0.216 N c -1.003 -0.915 0.924 0.267 0.497 0.185 0 -0.033 0.132 0.560 0.230 0.069 0.176 0.803 0.295 0.975 0.474 6.001 0.186 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.9667 0.9391 0.9842 0.9765 0.8811 0.9929 0.9863 0.9769 0.9143 0.9680 0.9366 0.9857 0.9768 0.8820 0.9914 0.9888 0.9684 hom 1445.33 50 22 26173661 . T C 1445.33 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.04;MQ0=0;QD=28.91;VQSLOD=8.7999;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1478,123,0 22 26193982 26193982 C G exonic MYO18B synonymous SNV MYO18B:NM_001318245:exon12:c.C2439G:p.L813L,MYO18B:NM_032608:exon12:c.C2439G:p.L813L 0.68 0.39 0.74 0.88 0.72 0.81 0.7296 0.4369 0.8435 0.8938 0.6916 0.7254 0.7167 0.7704 0.65 0.46 0.74 0.58 . rs738642 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7325 0.4325 0.8305 0.6125 0.8940 0.6936 0.7289 0.7058 0.7682 0.6554 0.4509 0.7931 0.5833 0.8969 0.6795 0.7307 0.7383 hom 3805.21 109 22 26193982 . C G 3805.21 Mask AC=2;AF=1.00;AN=2;DP=109;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6548;MQ=59.79;MQ0=0;QD=34.91;VQSLOD=8.5284;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3805,295,0 22 26194045 26194045 T C exonic MYO18B synonymous SNV MYO18B:NM_001318245:exon12:c.T2502C:p.G834G,MYO18B:NM_032608:exon12:c.T2502C:p.G834G 0.57 0.27 0.63 0.66 0.7 0.71 0.6636 0.3324 0.6921 0.6794 0.6714 0.6980 0.6558 0.6868 0.59 0.35 0.71 0.49 . rs738643 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6641 0.3239 0.6936 0.5430 0.6791 0.6735 0.7034 0.6497 0.6843 0.5952 0.3391 0.6806 0.5232 0.6966 0.6597 0.7093 0.6834 hom 1156.37 40 22 26194045 . T C 1156.37 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8284;MQ=58.25;MQ0=0;QD=28.91;VQSLOD=7.4679;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1189,111,0 22 26239850 26239850 C A exonic MYO18B nonsynonymous SNV MYO18B:NM_001318245:exon18:c.C3360A:p.H1120Q,MYO18B:NM_032608:exon18:c.C3357A:p.H1119Q 0.72 0.44 0.76 1. 0.7 0.82 0.7340 0.4740 0.8393 0.9967 0.7767 0.7059 0.7299 0.7710 0.64 0.49 0.71 0.63 . rs5761268 COSM4156086 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.202 P -2.535 0.001 N -2.06 0.859 D 3.96 0.001 N 0.127 0.144 -0.932 0.439 T 0.000 0.000 T . . . -0.536 0.053 0.179 0.442 0.033 0.400 0.261 N c -1.643 -1.447 0.973 0.294 0.487 0.133 0 -3.23 0.048 2.561 0.453 -0.796 0.032 1.000 0.715 0.984 0.507 0.791 0.010 Myosin head\x2c motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.7391 0.4667 0.8294 0.5942 0.9971 0.7712 0.7089 0.7049 0.7688 0.6653 0.4657 0.7721 0.5927 0.9975 0.7676 0.7124 0.7352 het 623.64 57 22 26239850 . C A 623.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.419;DP=57;Dels=0.00;FS=5.574;HRun=1;HaplotypeScore=1.9085;MQ=59.60;MQ0=0;MQRankSum=1.018;QD=10.94;ReadPosRankSum=0.174;VQSLOD=5.6937;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,24:57:99:654,0,949 22 26247456 26247456 G A exonic MYO18B synonymous SNV MYO18B:NM_001318245:exon21:c.G3798A:p.G1266G,MYO18B:NM_032608:exon21:c.G3795A:p.G1265G 0.24 0.17 0.36 0.083 0.39 0.26 0.3586 0.2426 0.4462 0.1268 0.3757 0.4369 0.3633 0.2741 0.32 0.2 0.38 0.28 . rs5996988 COSM444799 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3346 0.1988 0.3742 0.3481 0.0951 0.3572 0.3923 0.3641 0.2693 0.3211 0.2050 0.4103 0.3543 0.0898 0.3576 0.3950 0.3931 het 118.55 15 22 26247456 . G A 118.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.591;DP=15;Dels=0.00;FS=2.187;HRun=0;HaplotypeScore=0.8321;MQ=56.16;MQ0=0;MQRankSum=1.355;QD=7.90;ReadPosRankSum=0.059;VQSLOD=3.1855;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,6:15:99:149,0,238 22 26422980 26422980 A G exonic MYO18B nonsynonymous SNV MYO18B:NM_001318245:exon43:c.A7043G:p.Q2348R,MYO18B:NM_032608:exon43:c.A7040G:p.Q2347R 0.43 0.91 0.25 0.24 0.17 0.34 0.2570 0.8058 0.2555 0.2094 0.2104 0.1616 0.2489 0.3613 0.35 0.77 0.15 0.53 . rs2236005 COSM4156088 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.051 0.230 N 1 0.090 P -1.935 0.002 N -1.86 0.844 D 1.55 0.007 N 0.017 0.129 -0.944 0.421 T 0.000 0.000 T . . . -1.521 0.016 0.002 0.119 0.002 0.012 0.042 N c -1.374 -1.209 0.356 0.197 0.638 0.428 0 3.78 0.425 2.438 0.443 0.138 0.222 0.144 0.233 0.464 0.265 4.701 0.121 . . . 0.2483 0.8151 0.2545 0.1779 0.2083 0.2035 0.1592 0.2203 0.3661 0.3534 0.8016 0.2780 0.1523 0.1771 0.1998 0.1644 0.2184 het 1452.22 166 22 26422980 . A G 1452.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.054;DP=166;Dels=0.00;FS=3.943;HRun=0;HaplotypeScore=5.4303;MQ=59.16;MQ0=1;MQRankSum=-1.594;QD=8.75;ReadPosRankSum=0.055;VQSLOD=3.8089;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:99,67:166:99:1482,0,2693 22 26695077 26695077 G T exonic SEZ6L nonsynonymous SNV SEZ6L:NM_001184773:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184774:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184775:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184776:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184777:exon5:c.G1290T:p.M430I,SEZ6L:NM_021115:exon5:c.G1290T:p.M430I 0.19 0.35 0.15 0.07 0.24 0.071 0.2093 0.3294 0.1087 0.0659 0.2479 0.2454 0.1939 0.1054 0.26 0.31 0.23 0.21 0.2 rs663048 COSM4985151 12(soft_tissue);1(oesophagus) . . . . . . . . . . . 0.423 0.165 T 0.007 0.217 B 0.006 0.239 B 0.069 0.216 N 1.000 0.090 P 0.08 0.083 N -0.02 0.629 T -0.57 0.172 N 0.014 0.080 -0.972 0.369 T 0.000 0.000 T . . . 0.397 0.132 6.585 0.880 0.171 0.123 0.170 N c -1.132 -0.991 0.002 0.094 0.554 0.246 0 0.149 0.141 0.256 0.180 -0.384 0.065 0.036 0.206 0.567 0.282 4.519 0.113 Sushi/SCR/CCP domain . . 0.1933 0.3200 0.1065 0.1963 0.0671 0.2295 0.2399 0.2040 0.0909 0.2491 0.3261 0.1241 0.2152 0.0562 0.2142 0.2436 0.2098 het 313 34 22 26695077 . G T 313 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.205;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2762;MQ=58.76;MQ0=0;MQRankSum=-1.240;QD=9.21;ReadPosRankSum=-0.035;VQSLOD=5.4676;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,13:34:99:343,0,594 22 26702015 26702015 A C exonic SEZ6L synonymous SNV SEZ6L:NM_001184773:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184774:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184775:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184776:exon6:c.A1419C:p.T473T,SEZ6L:NM_001184777:exon6:c.A1419C:p.T473T,SEZ6L:NM_021115:exon6:c.A1419C:p.T473T 0.36 0.66 0.34 0.1 0.44 0.16 0.3748 0.6127 0.2753 0.1145 0.3982 0.4288 0.3714 0.2033 0.5 0.62 0.43 0.41 0.46 rs1210894 COSM149272 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3713 0.6220 0.2848 0.4464 0.1168 0.3988 0.4352 0.4033 0.2021 0.4615 0.6212 0.2828 0.4536 0.0918 0.3726 0.4443 0.3867 het 1566.90 111 22 26702015 . A C 1566.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.555;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5233;MQ=58.85;MQ0=0;MQRankSum=0.346;QD=14.12;ReadPosRankSum=-0.298;VQSLOD=6.4739;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,59:111:99:1597,0,1455 22 26853905 26853905 C A exonic HPS4 nonsynonymous SNV HPS4:NM_152841:exon11:c.G1860T:p.Q620H,HPS4:NM_001349896:exon13:c.G1875T:p.Q625H,HPS4:NM_001349899:exon13:c.G1875T:p.Q625H,HPS4:NM_001349904:exon13:c.G1875T:p.Q625H,HPS4:NM_001349905:exon13:c.G1875T:p.Q625H,HPS4:NM_022081:exon13:c.G1875T:p.Q625H,HPS4:NM_001349898:exon14:c.G1875T:p.Q625H,HPS4:NM_001349900:exon14:c.G1929T:p.Q643H,HPS4:NM_001349901:exon14:c.G1929T:p.Q643H 0.83 0.74 0.76 0.8 0.94 0.9 0.8819 0.7542 0.6637 0.7960 0.9760 0.9309 0.9049 0.9229 0.87 0.75 0.93 0.77 0.92 rs1894704 . . Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150818.2|RCV000350203.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . 0.123 0.275 T 0.831 0.486 P 0.504 0.486 P 0.017 0.277 N 0.853 0.284 P 1.965 0.534 M 1.88 0.239 T -1.99 0.459 N 0.163 0.269 -1.052 0.137 T 0.000 0.000 T . . . 3.443 0.472 23.0 0.994 0.643 0.817 0.408 D c 0.260 0.262 1.000 0.517 0.707 0.730 0 5.13 0.696 2.034 0.405 0.935 0.490 1.000 0.715 0.912 0.389 11.226 0.479 . ENSG00000100104.8|ENSG00000261188.1|ENSG00000261188.1|ENSG00000261188.1|ENSG00000100099.16|ENSG00000100099.16|ENSG00000100104.8|ENSG00000261188.1 Adipose_Visceral_Omentum|Artery_Aorta|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.8781 0.7475 0.6823 0.9595 0.7922 0.979 0.9283 0.8912 0.9219 0.8744 0.7497 0.6909 0.9603 0.7831 0.9788 0.9372 0.9308 hom 1387.42 51 22 26853905 . C A 1387.42 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.10;MQ0=0;QD=27.20;VQSLOD=7.8887;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1420,111,0 22 26854441 26854441 G A exonic HPS4 nonsynonymous SNV HPS4:NM_152841:exon10:c.C1801T:p.H601Y,HPS4:NM_001349896:exon12:c.C1816T:p.H606Y,HPS4:NM_001349899:exon12:c.C1816T:p.H606Y,HPS4:NM_001349904:exon12:c.C1816T:p.H606Y,HPS4:NM_001349905:exon12:c.C1816T:p.H606Y,HPS4:NM_022081:exon12:c.C1816T:p.H606Y,HPS4:NM_001349898:exon13:c.C1816T:p.H606Y,HPS4:NM_001349900:exon13:c.C1870T:p.H624Y,HPS4:NM_001349901:exon13:c.C1870T:p.H624Y 0.83 0.75 0.76 0.8 0.94 0.9 0.8818 0.7550 0.6634 0.7952 0.9757 0.9309 0.9053 0.9227 0.87 0.75 0.93 0.77 0.93 rs1894706 COSM4156097;COSM4156096 1(thyroid) Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150819.2|RCV000310549.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . 0.052 0.390 T 1.0 0.899 D 0.999 0.916 D 0.000 0.629 D 0.012 0.407 P 2.585 0.758 M 1.94 0.227 T -4.41 0.774 D 0.264 0.430 -1.099 0.042 T 0.000 0.000 T . . . 5.563 0.757 26.4 0.997 0.783 0.987 0.862 D c 0.606 0.482 1.000 0.747 0.732 0.924 0 4.7 0.586 8.060 0.892 1.048 0.713 1.000 0.715 0.302 0.237 16.825 0.857 . ENSG00000100104.8|ENSG00000261188.1|ENSG00000261188.1|ENSG00000261188.1|ENSG00000100099.16|ENSG00000100099.16|ENSG00000100104.8|ENSG00000261188.1 Adipose_Visceral_Omentum|Artery_Aorta|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.8782 0.7491 0.6825 0.9595 0.7922 0.9790 0.9282 0.8912 0.9215 0.8749 0.7519 0.6940 0.9603 0.7804 0.9788 0.9372 0.9303 hom 4762.80 159 22 26854441 . G A 4762.80 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6671;MQ=59.62;MQ0=0;QD=29.95;VQSLOD=8.6784;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4762,382,0 22 26859942 26859942 C T exonic HPS4 nonsynonymous SNV HPS4:NM_152841:exon9:c.G1639A:p.V547M,HPS4:NM_001349896:exon11:c.G1654A:p.V552M,HPS4:NM_001349899:exon11:c.G1654A:p.V552M,HPS4:NM_001349902:exon11:c.G1654A:p.V552M,HPS4:NM_001349903:exon11:c.G1654A:p.V552M,HPS4:NM_001349904:exon11:c.G1654A:p.V552M,HPS4:NM_001349905:exon11:c.G1654A:p.V552M,HPS4:NM_022081:exon11:c.G1654A:p.V552M,HPS4:NM_001349898:exon12:c.G1654A:p.V552M,HPS4:NM_001349900:exon12:c.G1708A:p.V570M,HPS4:NM_001349901:exon12:c.G1708A:p.V570M 0.79 0.67 0.72 0.8 0.91 0.88 0.8488 0.6884 0.6459 0.7943 0.9508 0.8924 0.875 0.9015 0.82 0.69 0.89 0.74 0.88 rs5752330 . . Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150820.2|RCV000267065.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . 0.084 0.329 T 0.902 0.637 P 0.462 0.510 P 0.003 0.361 N 0.978 0.252 P 1.775 0.461 L 1.93 0.229 T -1.98 0.457 N 0.246 0.301 -1.065 0.106 T 0.000 0.000 T . . . 5.015 0.675 25.2 0.998 0.855 0.683 0.335 D c -0.087 -0.213 1.000 0.517 0.707 0.730 0 1.94 0.249 0.611 0.238 0.040 0.155 0.674 0.281 0.903 0.383 8.743 0.335 . ENSG00000100099.16|ENSG00000100104.8|ENSG00000261188.1|ENSG00000260065.1|ENSG00000100104.8|ENSG00000100099.16|ENSG00000100099.16|ENSG00000261188.1|ENSG00000100099.16|ENSG00000100099.16|ENSG00000100099.16|ENSG00000100104.8|ENSG00000100104.8|ENSG00000100099.16|ENSG00000100104.8|ENSG00000100099.16 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Brain_Hippocampus|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.8454 0.6822 0.6606 0.8685 0.7913 0.9567 0.8918 0.8572 0.8997 0.8345 0.6823 0.6663 0.8742 0.7823 0.9559 0.9041 0.9073 het 1595.08 126 22 26859942 . C T 1595.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.908;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7480;MQ=58.53;MQ0=0;MQRankSum=1.894;QD=12.66;ReadPosRankSum=0.725;VQSLOD=5.7649;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,62:126:99:1625,0,1801 22 26862212 26862212 T C exonic HPS4 nonsynonymous SNV HPS4:NM_152841:exon7:c.A671G:p.E224G,HPS4:NM_001349896:exon9:c.A686G:p.E229G,HPS4:NM_001349899:exon9:c.A686G:p.E229G,HPS4:NM_001349900:exon9:c.A686G:p.E229G,HPS4:NM_001349901:exon9:c.A686G:p.E229G,HPS4:NM_001349902:exon9:c.A686G:p.E229G,HPS4:NM_001349903:exon9:c.A686G:p.E229G,HPS4:NM_001349904:exon9:c.A686G:p.E229G,HPS4:NM_001349905:exon9:c.A686G:p.E229G,HPS4:NM_022081:exon9:c.A686G:p.E229G,HPS4:NM_001349898:exon10:c.A686G:p.E229G 0.79 0.67 0.72 0.8 0.91 0.88 0.8487 0.6883 0.6461 0.7934 0.9508 0.8924 0.8756 0.9015 0.82 0.69 0.89 0.74 0.82 rs713998 . . Benign|Benign not_specified|Hermansky-Pudlak_syndrome RCV000150822.2|RCV000260978.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . 0.647 0.052 T 0.0 0.026 B 0.0 0.013 B 0.486 0.050 N 1 0.090 P -1.85 0.003 N -2.19 0.868 D 1.73 0.008 N 0.036 0.399 -0.958 0.396 T 0.000 0.000 T . . . -0.822 0.039 0.038 0.616 0.066 0.003 0.016 N c -1.557 -1.473 1.000 0.517 0.707 0.730 0 0.46 0.158 0.170 0.164 -0.320 0.077 0.001 0.137 0.004 0.083 0.800 0.010 . ENSG00000100099.16|ENSG00000100104.8|ENSG00000261188.1|ENSG00000260065.1|ENSG00000100104.8|ENSG00000100099.16|ENSG00000100099.16|ENSG00000261188.1|ENSG00000100099.16|ENSG00000100099.16|ENSG00000100099.16|ENSG00000100104.8|ENSG00000100104.8|ENSG00000100099.16|ENSG00000100104.8|ENSG00000100099.16 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Brain_Hippocampus|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.8455 0.6827 0.6610 0.8686 0.7913 0.9567 0.8918 0.8573 0.8998 0.8345 0.6824 0.6671 0.8742 0.7825 0.9559 0.9041 0.9073 het 1262.94 134 22 26862212 . T C 1262.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.173;DP=134;Dels=0.00;FS=2.482;HRun=2;HaplotypeScore=0.9159;MQ=59.69;MQ0=0;MQRankSum=-0.150;QD=9.42;ReadPosRankSum=-0.853;VQSLOD=6.4281;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,50:134:99:1293,0,2266 22 26866723 26866723 C T exonic HPS4 synonymous SNV HPS4:NM_152841:exon5:c.G543A:p.S181S,HPS4:NM_001349896:exon7:c.G558A:p.S186S,HPS4:NM_001349899:exon7:c.G558A:p.S186S,HPS4:NM_001349900:exon7:c.G558A:p.S186S,HPS4:NM_001349901:exon7:c.G558A:p.S186S,HPS4:NM_001349902:exon7:c.G558A:p.S186S,HPS4:NM_001349903:exon7:c.G558A:p.S186S,HPS4:NM_001349904:exon7:c.G558A:p.S186S,HPS4:NM_001349905:exon7:c.G558A:p.S186S,HPS4:NM_022081:exon7:c.G558A:p.S186S,HPS4:NM_001349898:exon8:c.G558A:p.S186S 0.022 0.026 0.032 0.003 0.03 0.018 0.0316 0.0271 0.0171 0.0009 0.0254 0.0418 0.0391 0.0212 0.037 0.027 0.043 0.022 0.025 rs13054747 COSM1415364;COSM1415363 1(large_intestine) Benign|Likely benign not_specified|Hermansky-Pudlak_syndrome RCV000150823.2|RCV000276415.1 MedGen|MedGen:SNOMED_CT CN169374|C0079504:9311003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0323 0.0251 0.0214 0.1017 0.0009 0.0225 0.0399 0.0343 0.0221 0.0309 0.0296 0.0239 0.1026 0 0.0229 0.0361 0.0245 het 463.16 57 22 26866723 . C T 463.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.516;DP=57;Dels=0.00;FS=3.924;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.139;QD=8.13;ReadPosRankSum=0.352;VQSLOD=5.0139;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,22:57:99:493,0,886 22 26884039 26884039 G A exonic SRRD nonsynonymous SNV SRRD:NM_001013694:exon3:c.G295A:p.A99T 0.81 0.66 0.84 0.81 0.91 0.88 0.8686 0.6806 0.8809 0.7927 0.9495 0.8872 0.8795 0.9024 0.82 0.68 0.88 0.74 0.7 rs4820682 . . . . . . . . . . . . . 0.305 0.142 T 0.001 0.067 B 0.002 0.063 B 0.423 0.128 N 1 0.090 P 2.045 0.562 M 0.91 0.449 T -0.59 0.176 N 0.01 0.001 -0.958 0.395 T 0.000 0.000 T . . . -0.130 0.082 1.517 0.900 0.187 0.084 0.142 N c -1.358 -1.418 1.000 0.427 0.646 0.442 0 -2.14 0.067 -0.005 0.127 -1.282 0.014 0.000 0.063 0.117 0.195 0.995 0.014 . ENSG00000100104.8|ENSG00000261188.1|ENSG00000260065.1|ENSG00000100104.8|ENSG00000100099.16|ENSG00000100099.16|ENSG00000100099.16|ENSG00000100099.16|ENSG00000100099.16|ENSG00000100104.8|ENSG00000100104.8|ENSG00000100099.16|ENSG00000100104.8|ENSG00000100099.16 Adipose_Visceral_Omentum|Artery_Aorta|Brain_Hippocampus|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.8721 0.6766 0.8797 0.8457 0.7930 0.9545 0.8864 0.8791 0.9003 0.8350 0.6730 0.8636 0.8477 0.7869 0.9542 0.8997 0.9133 het 325.18 24 22 26884039 . G A 325.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.260;DP=24;Dels=0.00;FS=4.129;HRun=0;HaplotypeScore=2.6939;MQ=59.03;MQ0=0;MQRankSum=0.695;QD=13.55;ReadPosRankSum=-0.521;VQSLOD=6.0754;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,13:24:99:355,0,301 22 26888060 26888060 G A exonic TFIP11 synonymous SNV TFIP11:NM_001346862:exon13:c.C2340T:p.I780I,TFIP11:NM_001346859:exon15:c.C2433T:p.I811I,TFIP11:NM_001346861:exon15:c.C2433T:p.I811I,TFIP11:NM_012143:exon15:c.C2433T:p.I811I,TFIP11:NM_001008697:exon16:c.C2433T:p.I811I,TFIP11:NM_001346857:exon16:c.C2433T:p.I811I,TFIP11:NM_001346858:exon16:c.C2433T:p.I811I 0.018 0.018 0.026 0.002 0.028 0.018 0.0314 0.0213 0.0149 0.0012 0.0304 0.0414 0.0344 0.0236 0.032 0.018 0.039 0.022 0.025 rs17850763 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0287 0.0174 0.0168 0.0906 0.0009 0.0222 0.0357 0.0302 0.0221 0.0259 0.0194 0.0167 0.0861 0 0.0229 0.0327 0.0224 het 811.08 58 22 26888060 . G A 811.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.919;DP=58;Dels=0.00;FS=18.450;HRun=1;HaplotypeScore=1.9784;MQ=59.28;MQ0=0;MQRankSum=-0.187;QD=13.98;ReadPosRankSum=1.462;VQSLOD=2.3737;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,29:58:99:841,0,758 22 26895337 26895337 G A exonic TFIP11 synonymous SNV TFIP11:NM_001346862:exon7:c.C969T:p.H323H,TFIP11:NM_001346859:exon9:c.C1062T:p.H354H,TFIP11:NM_001346861:exon9:c.C1062T:p.H354H,TFIP11:NM_012143:exon9:c.C1062T:p.H354H,TFIP11:NM_001008697:exon10:c.C1062T:p.H354H,TFIP11:NM_001346857:exon10:c.C1062T:p.H354H,TFIP11:NM_001346858:exon10:c.C1062T:p.H354H 0.78 0.57 0.81 0.83 0.89 0.86 0.8550 0.6003 0.8693 0.8162 0.9468 0.8785 0.8722 0.8927 0.78 0.59 0.87 0.7 0.89 rs1008530 COSM4156104 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8617 0.5954 0.8667 0.8626 0.8178 0.9535 0.8767 0.8701 0.8906 0.8092 0.5944 0.8413 0.8633 0.8125 0.9525 0.8913 0.9010 het 2811.76 213 22 26895337 . G A 2811.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.933;DP=213;Dels=0.00;FS=1.725;HRun=0;HaplotypeScore=1.8499;MQ=59.72;MQ0=0;MQRankSum=-0.468;QD=13.20;ReadPosRankSum=1.609;VQSLOD=6.3173;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:105,108:213:99:2842,0,2515 22 26936897 26936897 G A exonic TPST2 synonymous SNV TPST2:NM_001008566:exon3:c.C700T:p.L234L,TPST2:NM_003595:exon3:c.C700T:p.L234L 0.1 0.11 0.11 0.003 0.24 0.058 0.1684 0.1168 0.0944 0.0029 0.2599 0.2243 0.1869 0.0765 0.19 0.11 0.23 0.11 0.35 rs12169509 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1703 0.1174 0.1026 0.1814 0.0032 0.2590 0.2305 0.1804 0.0763 0.1932 0.1209 0.1316 0.2020 0.0031 0.2446 0.2462 0.2098 het 1371.83 121 22 26936897 . G A 1371.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.867;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4450;MQ=59.50;MQ0=0;MQRankSum=-1.374;QD=11.34;ReadPosRankSum=0.373;VQSLOD=5.8060;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,53:121:99:1402,0,2041 22 26937327 26937327 C G exonic TPST2 synonymous SNV TPST2:NM_001008566:exon3:c.G270C:p.A90A,TPST2:NM_003595:exon3:c.G270C:p.A90A 0.91 0.77 0.93 1. 0.93 0.99 0.9216 0.8008 0.9624 1 0.9518 0.9102 0.9352 0.9821 0.93 0.98 0.91 0.83 0.78 rs4822735 COSM3759103 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9277 0.8003 0.9554 0.9446 0.9999 0.9554 0.9085 0.9323 0.9796 0.8918 0.8050 0.9438 0.9503 0.9994 0.9550 0.9100 0.9162 hom 2024.29 65 22 26937327 . C G 2024.29 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.93;MQ0=0;QD=31.14;VQSLOD=8.3583;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:2057,166,0 22 27021457 27021457 T C exonic CRYBA4 synonymous SNV CRYBA4:NM_001886:exon4:c.T171C:p.F57F 0.92 0.93 0.89 0.99 0.86 0.93 0.8927 0.9269 0.9477 0.9959 0.9220 0.8541 0.8929 0.9223 0.87 0.92 0.85 0.9 0.77 rs5761637 . . Benign not_specified RCV000250609.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8956 0.9266 0.9431 0.9304 0.9966 0.9232 0.8456 0.8888 0.9232 0.8924 0.9241 0.9391 0.9467 0.9975 0.9229 0.8524 0.8824 hom 7138.01 229 22 27021457 . T C 7138.01 Mask AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0564;MQ=58.84;MQ0=0;QD=31.17;VQSLOD=6.4085;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,228:229:99:7137,569,0 22 29446611 29446611 A C exonic ZNRF3 synonymous SNV ZNRF3:NM_001206998:exon8:c.A2442C:p.P814P,ZNRF3:NM_032173:exon8:c.A2142C:p.P714P 0.52 0.54 0.55 0.52 0.5 0.48 0.5170 0.5749 0.5005 0.5454 0.5367 0.5191 0.5186 0.4702 0.53 0.56 0.51 0.58 0.074 rs5997435 COSM3759105;COSM3759104 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5078 0.5654 0.5027 0.4391 0.5305 0.5243 0.5134 0.4994 0.4663 0.5279 0.5712 0.5108 0.4603 0.5342 0.5330 0.5037 0.5215 het 309.63 20 22 29446611 . A C 309.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.273;DP=20;Dels=0.00;FS=1.922;HRun=2;HaplotypeScore=2.8846;MQ=56.91;MQ0=0;MQRankSum=-0.424;QD=15.48;ReadPosRankSum=-1.813;VQSLOD=3.0629;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:340,0,235 22 29456733 29456733 T C exonic C22orf31 synonymous SNV C22orf31:NM_015370:exon2:c.A102G:p.S34S 0.48 0.45 0.49 0.31 0.64 0.53 0.5763 0.4790 0.3714 0.3060 0.6074 0.6643 0.6024 0.5533 0.6 0.49 0.66 0.59 0.54 rs6005977 COSM1130467 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5735 0.4809 0.4104 0.7004 0.3072 0.6005 0.6642 0.5975 0.5531 0.5690 0.4941 0.4412 0.7119 0.3243 0.6057 0.6351 0.5634 het 2903.38 250 22 29456733 . T C 2903.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.909;DP=250;DS;Dels=0.00;FS=2.156;HRun=0;HaplotypeScore=2.6637;MQ=59.51;MQ0=0;MQRankSum=-1.098;QD=11.61;ReadPosRankSum=1.373;VQSLOD=5.9418;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,114:250:99:2933,0,3451 22 29533499 29533499 G A exonic KREMEN1 synonymous SNV KREMEN1:NM_001039570:exon6:c.G801A:p.A267A,KREMEN1:NM_032045:exon6:c.G801A:p.A267A 0.11 0.073 0.11 0.043 0.2 0.13 0.1558 0.0816 0.1204 0.0241 0.2320 0.1798 0.1607 0.1657 0.14 0.082 0.17 0.087 0.24 rs35612970 COSM5419988;COSM5419987 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1539 0.0777 0.1167 0.1421 0.0254 0.2277 0.1772 0.1522 0.1701 0.1578 0.0807 0.1265 0.1667 0.0290 0.2209 0.1992 0.2244 hom 4117.08 132 22 29533499 . G A 4117.08 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=31.19;VQSLOD=8.2281;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4117,316,0 22 29533572 29533572 C G exonic KREMEN1 nonsynonymous SNV KREMEN1:NM_001039570:exon6:c.C874G:p.L292V,KREMEN1:NM_032045:exon6:c.C874G:p.L292V 0.11 0.073 0.11 0.043 0.2 0.13 0.1559 0.0816 0.1206 0.0245 0.2326 0.1800 0.1611 0.1652 0.14 0.081 0.17 0.087 0.24 rs34920087 COSM3736290;COSM3736291 2(skin);1(large_intestine) . . . . . . . . . . . 0.432 0.095 T 0.183 0.275 B 0.122 0.308 B 0.281 0.149 N 1 0.090 P 1.06 0.271 L 2.24 0.179 T 0.09 0.059 N 0.028 0.012 -1.134 0.016 T 0.000 0.000 T . . . 0.155 0.109 4.201 0.933 0.225 0.057 0.115 N c -1.116 -1.231 1.000 0.747 0.615 0.372 0 -8.68 0.007 -0.416 0.071 0.042 0.156 0.000 0.063 0.996 0.625 20.475 0.992 CUB domain . . 0.1540 0.0778 0.1168 0.1421 0.0259 0.2277 0.1774 0.1524 0.1701 0.1580 0.0810 0.1265 0.1656 0.0296 0.2205 0.1995 0.2229 hom 2900.64 83 22 29533572 . C G 2900.64 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.44;MQ0=0;QD=34.95;VQSLOD=8.7634;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2934,232,0 22 29704125 29704125 C T exonic GAS2L1 synonymous SNV GAS2L1:NM_001278730:exon2:c.C30T:p.G10G 0.33 0.18 0.52 0.28 0.36 0.4 0.3933 0.2216 0.4968 0.3041 0.4013 0.3958 0.4329 0.4679 0.32 0.2 0.38 0.26 0.25 rs11090564 COSM1162503;COSM1162504 1(pancreas);1(thyroid);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3879 0.1911 0.4897 0.4555 0.2916 0.3857 0.3826 0.3953 0.4368 0.3314 0.1974 0.4618 0.4305 0.3123 0.3807 0.3872 0.3804 het 271.64 26 22 29704125 . C T 271.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.651;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.093;QD=10.45;ReadPosRankSum=0.527;VQSLOD=11.6842;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,11:26:99:302,0,414 22 29704662 29704662 C G exonic GAS2L1 synonymous SNV GAS2L1:NM_001278730:exon2:c.C567G:p.P189P 0.02 0.0023 0.027 . 0.071 0.0061 0.0675 0.0198 0.0294 0 0.0981 0.0933 0.0552 0.0143 0.043 0.012 0.059 0.011 0.049 rs56037813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0460 0.0119 0.0254 0.0483 7.259e-05 0.0583 0.0735 0.0455 0.0081 0.0488 0.0130 0.0263 0.0563 0 0.0485 0.0763 0.0471 het 104.45 12 22 29704662 . C G 104.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.831;DP=12;Dels=0.00;FS=5.332;HRun=1;HaplotypeScore=0.0000;MQ=56.43;MQ0=0;MQRankSum=-0.244;QD=8.70;ReadPosRankSum=0.244;VQSLOD=2.9421;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,5:12:99:134,0,188 22 29707827 29707827 G A exonic GAS2L1 unknown UNKNOWN 0.017 0.0023 0.023 . 0.062 0.0061 0.0566 0.0140 0.0284 0 0.1080 0.0865 0.0507 0.0093 0.037 0.0096 0.05 0.011 . rs112302060 . . . . . . . . . . . . . . . . 0.03 0.186 B 0.043 0.229 B 0.183 0.032 U 1.000 0.090 N . . . . . . . . . . . -1.009 0.272 T 0.005 0.018 T . . . -0.347 0.065 0.517 0.609 0.064 0.080 0.138 N c -0.895 -0.947 1.000 0.500 0.722 0.854 0 2.57 0.298 1.125 0.307 0.807 0.329 0.097 0.225 0.090 0.185 5.382 0.154 . . . 0.0359 0.0082 0.0196 0.0344 0 0.0518 0.0583 0.0358 0.0066 0.0404 0.0098 0.0227 0.0397 0 0.0444 0.0626 0.0419 het 306.52 14 22 29707827 . G A 306.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DP=14;Dels=0.00;FS=2.688;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=-0.099;QD=21.89;ReadPosRankSum=0.296;VQSLOD=3.1973;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,11:14:33.24:337,0,33 22 29727866 29727866 C T exonic AP1B1 synonymous SNV AP1B1:NM_001166019:exon17:c.G2268A:p.A756A,AP1B1:NM_145730:exon17:c.G2328A:p.A776A,AP1B1:NM_001127:exon18:c.G2349A:p.A783A 0.53 0.41 0.4 0.7 0.6 0.56 0.5420 0.4458 0.4487 0.6915 0.5835 0.5569 0.5312 0.5137 0.52 0.44 0.55 0.47 0.45 rs174765 COSM3759109;COSM3759110 1(liver);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5387 0.4458 0.4540 0.4865 0.6962 0.5775 0.5572 0.5375 0.5113 0.5282 0.4510 0.4761 0.5134 0.6787 0.5808 0.5468 0.5462 het 744.29 59 22 29727866 . C T 744.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.281;DP=59;Dels=0.00;FS=4.256;HRun=0;HaplotypeScore=2.5743;MQ=59.05;MQ0=0;MQRankSum=-1.039;QD=12.62;ReadPosRankSum=0.781;VQSLOD=5.2768;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,30:59:99:774,0,747 22 29727886 29727886 T C exonic AP1B1 nonsynonymous SNV AP1B1:NM_001166019:exon17:c.A2248G:p.T750A,AP1B1:NM_145730:exon17:c.A2308G:p.T770A,AP1B1:NM_001127:exon18:c.A2329G:p.T777A 1. 1. 1. 1. 1. 1. 0.9999 1 0.9999 0.9998 1 0.9999 1 0.9997 1. 1. 1. 1. 0.87 rs2857465 COSM4156121;COSM4156120 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 1 1 1 1 1 0.9999 1 0.9997 1 1 1 1 1 1 1 1 hom 1396.27 47 22 29727886 . T C 1396.27 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.71;VQSLOD=13.3515;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1429,126,0 22 29755888 29755888 T C exonic AP1B1 synonymous SNV AP1B1:NM_001127:exon4:c.A204G:p.L68L,AP1B1:NM_001166019:exon4:c.A204G:p.L68L,AP1B1:NM_145730:exon4:c.A204G:p.L68L 0.67 0.88 0.45 0.73 0.57 0.58 0.5840 0.8369 0.4645 0.7146 0.6227 0.5535 0.5628 0.5489 0.64 0.83 0.55 0.72 0.55 rs2072051 COSM3759112;COSM3759111 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5720 0.8472 0.4697 0.4306 0.7186 0.6139 0.5545 0.5519 0.5463 0.6499 0.8357 0.4976 0.4669 0.6976 0.6177 0.5600 0.5896 het 2150.47 156 22 29755888 . T C 2150.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.111;DP=156;Dels=0.00;FS=11.306;HRun=1;HaplotypeScore=3.8501;MQ=59.61;MQ0=0;MQRankSum=-0.307;QD=13.79;ReadPosRankSum=0.861;VQSLOD=4.4535;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:82,74:156:99:2180,0,2267 22 29837537 29837537 T C exonic RFPL1 nonsynonymous SNV RFPL1:NM_021026:exon2:c.T380C:p.M127T 0.23 0.036 0.4 0.11 0.44 0.29 0.3468 0.0868 0.3611 0.0905 0.2865 0.4255 0.3514 0.3411 0.32 0.091 0.43 0.24 0.48 rs3804076 COSM1415507 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.034 0.440 D 0.982 0.581 D 0.998 0.875 D . . . 0.990 0.242 P 2.89 0.840 M 2.87 0.104 T -3.43 0.673 D 0.123 0.138 -0.959 0.394 T 0.000 0.000 T . . . 3.716 0.504 23.3 0.980 0.369 0.816 0.407 D c 0.162 -0.104 0.020 0.132 0.554 0.246 0 1.1 0.195 4.972 0.632 0.443 0.277 0.996 0.391 0.326 0.242 6.312 0.202 B30.2/SPRY domain|Butyrophylin-like|Concanavalin A-like lectin/glucanase domain|SPRY-associated ENSG00000100296.9|ENSG00000100296.9|ENSG00000100296.9|ENSG00000100296.9|ENSG00000100296.9|ENSG00000100296.9|ENSG00000100296.9|ENSG00000100296.9 Adipose_Subcutaneous|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3523 0.0780 0.3636 0.5367 0.0923 0.2971 0.4246 0.3972 0.3345 0.2744 0.0812 0.3696 0.5066 0.0878 0.2892 0.3907 0.3176 hom 4975.79 150 22 29837537 . T C 4975.79 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.157;DP=150;Dels=0.00;FS=4.929;HRun=0;HaplotypeScore=1.8188;MQ=54.51;MQ0=1;MQRankSum=1.839;QD=33.17;ReadPosRankSum=-0.784;VQSLOD=3.5238;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:3,147:150:99:4913,344,0 22 29837567 29837569 TCC - exonic RFPL1 nonframeshift deletion RFPL1:NM_021026:exon2:c.410_412del:p.L139del 0.27 0.15 0.42 0.11 0.45 0.29 0.3578 0.1776 0.3720 0.0978 0.2876 0.4310 0.3601 0.3299 0.35 0.18 0.44 0.087 . rs71324764 COSM3723348 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3636 0.1701 0.3759 0.5434 0.1001 0.2976 0.4304 0.4076 0.3359 0.3025 0.1715 0.3935 0.5199 0.0970 0.2896 0.3935 0.3207 hom 7751.85 187 22 29837566 . TTCC T 7751.85 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.870;DP=187;FS=0.000;HRun=0;HaplotypeScore=1187.9394;MQ=54.37;MQ0=1;MQRankSum=2.084;QD=40.17;ReadPosRankSum=0.417;set=variant2 GT:AD:DP:GQ:PL 1/1:22,171:187:99:7752,373,0 22 29885599 29885604 AGGAAG - exonic NEFH nonframeshift deletion NEFH:NM_021076:exon4:c.1970_1975del:p.E658_E659del . . . . . . 0.0007 0.0019 8.817e-05 0.0005 0.0003 0.0009 0 0.0001 . . . 0.076 . rs373980795 COSM1193001 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver);3(oesophagus);1(lung);1(thyroid);7(large_intestine);2(central_nervous_system);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0041 0.0048 0.0029 0.0041 0.0026 0.0059 0.0044 0.0035 0.0030 0.0186 0.0177 0.0125 0.0169 0.0199 0.0167 0.0197 0.0191 het 1742.27 191 22 29885598 . AAGGAAG A 1742.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.641;DP=191;DS;FS=0.704;HRun=0;HaplotypeScore=1759.4864;MQ=42.98;MQ0=1;MQRankSum=-2.495;QD=7.05;ReadPosRankSum=-0.328;set=variant2 GT:AD:DP:GQ:PL 0/1:183,64:191:99:1781,0,13574 22 29885861 29885861 T C exonic NEFH synonymous SNV NEFH:NM_021076:exon4:c.T2232C:p.A744A 0.82 0.87 0.74 0.79 0.77 0.88 0.8060 0.8331 0.7515 0.8192 0.8814 0.7899 0.7908 0.8550 0.8 0.83 0.78 0.61 0.7 rs165923 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8016 0.8315 0.7549 0.7478 0.8161 0.8737 0.7855 0.7913 0.8533 0.8237 0.8380 0.7579 0.7414 0.8009 0.8825 0.8089 0.8271 hom 7978.58 243 22 29885861 . T C 7978.58 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9300;MQ=58.26;MQ0=0;QD=32.83;VQSLOD=8.5356;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:243:99:7956,617,0 22 29886413 29886413 A G exonic NEFH synonymous SNV NEFH:NM_021076:exon4:c.A2784G:p.V928V 0.85 0.87 0.77 0.93 0.77 0.89 0.8190 0.8346 0.8008 0.9230 0.8829 0.7913 0.7987 0.8552 0.8 0.83 0.78 0.79 0.6 rs165625 . . not provided not_provided RCV000057195.1 MedGen CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8155 0.8338 0.7929 0.7490 0.9239 0.8759 0.7868 0.7995 0.8544 0.8264 0.8352 0.8055 0.73 0.9284 0.8825 0.8002 0.8286 hom 1831.70 53 22 29886413 . A G 1831.70 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=34.56;VQSLOD=9.8717;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1865,150,0 22 30688659 30688659 C T exonic TBC1D10A nonsynonymous SNV TBC1D10A:NM_001204240:exon9:c.G1253A:p.R418H,TBC1D10A:NM_031937:exon9:c.G1232A:p.R411H 0.045 0.0045 0.069 0.001 0.15 0.026 0.0909 0.0214 0.0712 0.0003 0.0798 0.1310 0.1086 0.0350 0.099 0.026 0.14 0.065 0.09 rs4823086 COSM4156133 2(thyroid) . . . . . . . . . . . 0.011 0.555 D 0.99 0.615 D 0.469 0.449 P 0.003 0.349 N 0.920 0.273 P 2.14 0.601 M 3.49 0.051 T -0.7 0.199 N 0.127 0.245 -1.019 0.239 T 0.000 0.001 T . . . 4.823 0.647 24.8 0.999 0.945 0.904 0.513 D c 0.328 0.335 1.000 0.423 0.706 0.609 0 5.51 0.817 1.352 0.334 0.935 0.490 0.997 0.399 0.996 0.625 12.190 0.534 . ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000187860.6|ENSG00000099999.10|ENSG00000187860.6|ENSG00000099999.10|ENSG00000241528.1|ENSG00000241528.1|ENSG00000239282.3|ENSG00000099999.10|ENSG00000241528.1|ENSG00000241528.1|ENSG00000187860.6|ENSG00000187860.6|ENSG00000241528.1|ENSG00000241528.1|ENSG00000187860.6|ENSG00000241528.1|ENSG00000241528.1|ENSG00000100012.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Whole_Blood 0.0921 0.0202 0.0748 0.1409 0.0002 0.0932 0.1327 0.1105 0.0341 0.0811 0.0240 0.0837 0.1467 0 0.0814 0.1212 0.0873 het 1145.33 83 22 30688659 . C T 1145.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.165;DP=83;Dels=0.00;FS=8.032;HRun=0;HaplotypeScore=1.7878;MQ=58.07;MQ0=0;MQRankSum=-0.486;QD=13.80;ReadPosRankSum=2.290;VQSLOD=3.9338;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,43:83:99:1175,0,810 22 30700607 30700607 T G exonic TBC1D10A synonymous SNV TBC1D10A:NM_001204240:exon2:c.A243C:p.V81V,TBC1D10A:NM_031937:exon2:c.A222C:p.V74V 0.16 0.14 0.16 0.14 0.25 0.1 0.1992 0.1542 0.1277 0.1447 0.1508 0.2492 0.2262 0.1217 0.22 0.15 0.26 0.22 0.28 rs4823089 COSM5033928 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1987 0.1524 0.1388 0.3208 0.1399 0.1638 0.2484 0.2366 0.1193 0.1882 0.1528 0.1516 0.3278 0.1405 0.1551 0.2215 0.1802 het 861.46 93 22 30700607 . T G 861.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.469;DP=93;Dels=0.00;FS=2.269;HRun=4;HaplotypeScore=5.7788;MQ=59.55;MQ0=0;MQRankSum=0.443;QD=9.26;ReadPosRankSum=0.726;VQSLOD=4.7175;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,37:93:99:891,0,1373 22 30733111 30733111 C A exonic SF3A1 synonymous SNV SF3A1:NM_005877:exon13:c.G2010T:p.V670V 0.15 0.13 0.16 0.14 0.25 0.086 0.1967 0.1504 0.1265 0.1431 0.1506 0.2482 0.2251 0.1113 0.22 0.15 0.26 0.21 0.28 rs2229807 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1960 0.1483 0.1374 0.3187 0.1399 0.1639 0.2473 0.2343 0.1095 0.1866 0.1497 0.1507 0.3255 0.1403 0.1553 0.2202 0.1792 het 991.99 81 22 30733111 . C A 991.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.071;DP=81;Dels=0.00;FS=6.141;HRun=1;HaplotypeScore=0.9989;MQ=59.25;MQ0=0;MQRankSum=0.854;QD=12.25;ReadPosRankSum=1.061;VQSLOD=4.7589;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,36:81:99:1022,0,1148 22 30762140 30762140 G A exonic CCDC157 nonsynonymous SNV CCDC157:NM_001017437:exon3:c.G151A:p.D51N,CCDC157:NM_001318334:exon3:c.G151A:p.D51N,CCDC157:NM_001318335:exon3:c.G151A:p.D51N 0.16 0.14 0.16 0.15 0.27 0.084 0.1961 0.1492 0.1286 0.1435 0.1501 0.2474 0.2236 0.1102 0.22 0.15 0.26 0.21 0.29 rs740223 COSM3759120 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.113 0.339 T 1.0 0.899 D 1.0 0.971 D . . . 0.001 0.460 P 2.215 0.627 M 0.57 0.544 T -3.6 0.693 D 0.301 0.361 -1.212 0.001 T 0.000 0.000 T . . . 5.778 0.790 27.0 0.999 0.984 0.984 0.826 D c 0.780 0.772 1.000 0.747 0.615 0.372 0 5.25 0.731 9.173 0.939 1.044 0.665 1.000 0.715 0.985 0.512 17.382 0.872 . ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000100296.9|ENSG00000241528.1|ENSG00000241528.1|ENSG00000100296.9|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000100296.9|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000100296.9|ENSG00000187860.6|ENSG00000099999.10|ENSG00000187860.6|ENSG00000099999.10|ENSG00000241528.1|ENSG00000100296.9|ENSG00000099999.10|ENSG00000241528.1|ENSG00000239282.3|ENSG00000099999.10|ENSG00000241528.1|ENSG00000100296.9|ENSG00000187860.6|ENSG00000241528.1|ENSG00000187860.6|ENSG00000241528.1|ENSG00000187860.6|ENSG00000241528.1|ENSG00000187860.6|ENSG00000241528.1|ENSG00000241528.1|ENSG00000187860.6|ENSG00000241528.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Thyroid 0.1966 0.1486 0.1396 0.3178 0.1407 0.1629 0.2470 0.2346 0.1098 0.1871 0.1501 0.1567 0.3245 0.1391 0.1552 0.2208 0.1782 het 4208.28 250 22 30762140 . G A 4208.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.164;DP=250;DS;Dels=0.00;FS=1.001;HRun=1;HaplotypeScore=4.5375;MQ=59.25;MQ0=0;MQRankSum=-2.170;QD=16.83;ReadPosRankSum=0.558;VQSLOD=3.8331;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:121,129:250:99:3581,0,2908 22 30765502 30765502 G A exonic CCDC157 synonymous SNV CCDC157:NM_001017437:exon4:c.G330A:p.A110A,CCDC157:NM_001318334:exon4:c.G330A:p.A110A 0.15 0.13 0.16 0.15 0.25 0.083 0.1986 0.1501 0.1293 0.1446 0.1516 0.2497 0.2282 0.1146 0.22 0.15 0.26 0.21 0.27 rs5749080 COSM4977991;COSM4977992 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1940 0.1461 0.1354 0.3142 0.1362 0.1635 0.2446 0.2304 0.1086 0.1868 0.1497 0.1563 0.3245 0.1388 0.1554 0.2204 0.1779 het 1066.74 109 22 30765502 . G A 1066.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.962;DP=109;Dels=0.00;FS=0.872;HRun=0;HaplotypeScore=2.5251;MQ=60.00;MQ0=0;MQRankSum=-1.431;QD=9.79;ReadPosRankSum=-0.722;VQSLOD=5.4796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,42:109:99:1097,0,2035 22 30771554 30771554 T G exonic CCDC157 nonsynonymous SNV CCDC157:NM_001017437:exon10:c.T1759G:p.S587A,CCDC157:NM_001318334:exon10:c.T1759G:p.S587A 0.99 1. 0.97 1. 0.96 0.99 0.9684 0.9921 0.9829 1 0.9731 0.9530 0.9714 0.9867 0.96 0.99 0.95 0.97 0.97 rs2015035 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.186 P -1.665 0.004 N -1.06 0.768 T 1.72 0.006 N 0.233 0.285 -0.935 0.433 T 0.000 0.000 T . . . 2.269 0.334 17.96 0.842 0.146 0.045 0.100 N c -0.766 -0.434 0.999 0.395 0.461 0.090 0 5.24 0.728 5.314 0.654 0.071 0.179 1.000 0.715 0.986 0.517 13.418 0.603 . . . 0.9687 0.9933 0.9810 0.9590 1 0.9769 0.9515 0.9610 0.9862 0.9735 0.9915 0.9785 0.9603 1 0.9760 0.9597 0.9724 hom 3230.05 102 22 30771554 . T G 3230.05 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8518;MQ=59.30;MQ0=0;QD=31.67;VQSLOD=7.7028;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,101:102:99:3264,250,0 22 30776095 30776095 C T exonic RNF215 nonsynonymous SNV RNF215:NM_001017981:exon7:c.G964A:p.A322T 0.13 0.052 0.16 0.14 0.25 0.083 0.1897 0.0796 0.1266 0.1438 0.1504 0.2469 0.2235 0.1100 0.2 0.084 0.26 0.15 0.28 rs5749088 COSM4002139 1(haematopoietic_and_lymphoid_tissue);1(skin);1(thyroid) . . . . . . . . . . . 0.354 0.121 T 0.0 0.026 B 0.0 0.013 B 0.443 0.126 N 1 0.090 P 0.205 0.094 N 2.13 0.196 T -1.37 0.340 N 0.023 0.202 -0.958 0.396 T 0.000 0.000 T . . . -0.120 0.083 1.586 0.889 0.178 0.022 0.064 N c -1.191 -1.372 1.000 0.747 0.707 0.730 0 -6.25 0.019 0.025 0.134 -0.841 0.030 0.015 0.189 0.026 0.142 2.193 0.036 Zinc finger\x2c RING/FYVE/PHD-type ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000100296.9|ENSG00000241528.1|ENSG00000241528.1|ENSG00000100296.9|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000100296.9|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000241528.1|ENSG00000100296.9|ENSG00000187860.6|ENSG00000099999.10|ENSG00000187860.6|ENSG00000099999.10|ENSG00000241528.1|ENSG00000100296.9|ENSG00000099999.10|ENSG00000241528.1|ENSG00000239282.3|ENSG00000099999.10|ENSG00000241528.1|ENSG00000187860.6|ENSG00000241528.1|ENSG00000187860.6|ENSG00000241528.1|ENSG00000187860.6|ENSG00000241528.1|ENSG00000187860.6|ENSG00000241528.1|ENSG00000241528.1|ENSG00000187860.6|ENSG00000241528.1|ENSG00000100296.9|ENSG00000100012.7|ENSG00000241528.1 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1913 0.0792 0.1366 0.3127 0.1401 0.1641 0.2462 0.2326 0.1095 0.1661 0.0798 0.1519 0.3179 0.1379 0.1552 0.2190 0.1759 het 1586.40 129 22 30776095 . C T 1586.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.598;DP=129;Dels=0.00;FS=2.349;HRun=0;HaplotypeScore=1.8650;MQ=59.17;MQ0=0;MQRankSum=0.220;QD=12.30;ReadPosRankSum=0.852;VQSLOD=6.4155;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:60,69:129:99:1616,0,1541 22 30888494 30888494 C T exonic SEC14L4 nonsynonymous SNV SEC14L4:NM_001161368:exon8:c.G631A:p.E211K,SEC14L4:NM_174977:exon8:c.G631A:p.E211K 0.14 0.092 0.28 0.04 0.23 0.14 0.1928 0.1126 0.2431 0.0324 0.2061 0.2284 0.1803 0.1438 0.19 0.11 0.23 0.065 0.23 rs17738527 COSM4002144 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.002 0.721 D 0.992 0.629 D 0.879 0.635 P 0.000 0.843 D 0.000 0.588 P 2.095 0.583 M 1.6 0.286 T -3.51 0.683 D 0.271 0.556 -1.202 0.001 T 0.000 0.000 T . . . 5.423 0.735 26.0 0.999 0.995 0.992 0.928 D c 0.711 0.686 1.000 0.747 0.638 0.428 0 5.09 0.685 5.717 0.679 0.888 0.391 1.000 0.715 0.823 0.344 17.602 0.879 CRAL-TRIO lipid binding domain ENSG00000133488.10|ENSG00000214161.3|ENSG00000133488.10|ENSG00000214491.4|ENSG00000181123.4|ENSG00000133488.10|ENSG00000214161.3|ENSG00000133488.10|ENSG00000181123.4 Cells_Transformed_fibroblasts|Lung|Lung|Lung|Lung|Stomach|Testis|Testis|Testis 0.1956 0.1089 0.2458 0.2335 0.0326 0.2017 0.2264 0.2124 0.1443 0.1768 0.1112 0.2375 0.2533 0.0308 0.1934 0.2202 0.2051 het 1178.25 119 22 30888494 . C T 1178.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.478;DP=119;Dels=0.00;FS=3.319;HRun=1;HaplotypeScore=2.9713;MQ=60.00;MQ0=0;MQRankSum=1.216;QD=9.90;ReadPosRankSum=-1.125;VQSLOD=5.4115;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,51:119:99:1208,0,1944 22 30888527 30888527 C T exonic SEC14L4 nonsynonymous SNV SEC14L4:NM_001161368:exon8:c.G598A:p.V200M,SEC14L4:NM_174977:exon8:c.G598A:p.V200M 0.15 0.1 0.28 0.04 0.23 0.14 0.1938 0.1218 0.2439 0.0324 0.2062 0.2286 0.1799 0.1440 0.19 0.12 0.23 0.076 0.23 rs17738540 COSM5905140;COSM5905141;COSM5905142 1(skin) . . . . . . . . . . . 0.071 0.351 T 0.999 0.899 D 0.91 0.629 D 0.000 0.629 D 0.000 0.588 P 2.2 0.622 M -1.05 0.767 T -2.16 0.488 N 0.067 0.501 -1.106 0.034 T 0.000 0.002 T . . . 5.941 0.816 27.6 0.998 0.916 0.760 0.369 D c 0.305 0.225 0.990 0.319 0.638 0.428 0 2.76 0.314 1.775 0.380 0.888 0.391 0.891 0.310 0.645 0.297 11.461 0.493 CRAL-TRIO lipid binding domain ENSG00000133488.10|ENSG00000214161.3|ENSG00000133488.10|ENSG00000214491.4|ENSG00000181123.4|ENSG00000133488.10|ENSG00000214161.3|ENSG00000133488.10|ENSG00000181123.4 Cells_Transformed_fibroblasts|Lung|Lung|Lung|Lung|Stomach|Testis|Testis|Testis 0.1962 0.1180 0.2469 0.2336 0.0326 0.2015 0.2263 0.2124 0.1442 0.1799 0.1212 0.2428 0.2583 0.0308 0.1941 0.2200 0.2059 het 1342.95 113 22 30888527 . C T 1342.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.222;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6596;MQ=60.00;MQ0=0;MQRankSum=1.492;QD=11.88;ReadPosRankSum=2.429;VQSLOD=4.6358;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,54:113:99:1373,0,1481 22 30891250 30891250 T C exonic SEC14L4 synonymous SNV SEC14L4:NM_001161368:exon5:c.A414G:p.Q138Q,SEC14L4:NM_174977:exon5:c.A414G:p.Q138Q 0.16 0.15 0.29 0.04 0.23 0.14 0.2158 0.1777 0.2638 0.0357 0.2187 0.2432 0.2017 0.1813 0.21 0.17 0.23 0.098 0.2 rs9606738 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1999 0.1614 0.2506 0.2365 0.0327 0.2004 0.2271 0.2184 0.1452 0.1930 0.1646 0.2494 0.2616 0.0309 0.1937 0.2212 0.2096 het 743.34 56 22 30891250 . T C 743.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.582;DP=56;Dels=0.00;FS=9.801;HRun=0;HaplotypeScore=1.5810;MQ=60.00;MQ0=0;MQRankSum=-0.194;QD=13.27;ReadPosRankSum=-1.273;VQSLOD=4.3695;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,26:56:99:773,0,847 22 30891294 30891294 G C exonic SEC14L4 nonsynonymous SNV SEC14L4:NM_001161368:exon5:c.C370G:p.R124G,SEC14L4:NM_174977:exon5:c.C370G:p.R124G 0.15 0.11 0.28 0.04 0.23 0.14 0.1953 0.1264 0.2442 0.0324 0.2063 0.2298 0.1803 0.1466 0.19 0.13 0.23 0.076 0.21 rs9606739 . . . . . . . . . . . . . 0.003 0.682 D 0.089 0.458 B 0.167 0.466 B 0.000 0.523 D 0.455 0.331 P 2.425 0.705 M -0.99 0.759 T -4.05 0.745 D 0.228 0.373 -1.115 0.026 T 0.000 0.001 T . . . 5.130 0.692 25.4 0.987 0.448 0.905 0.514 D c -0.244 -0.245 0.995 0.337 0.638 0.428 0 2.62 0.302 3.630 0.538 0.879 0.385 1.000 0.715 0.986 0.517 11.674 0.505 CRAL-TRIO lipid binding domain ENSG00000133488.10|ENSG00000214161.3|ENSG00000133488.10|ENSG00000214491.4|ENSG00000181123.4|ENSG00000133488.10|ENSG00000214161.3|ENSG00000133488.10|ENSG00000181123.4 Cells_Transformed_fibroblasts|Lung|Lung|Lung|Lung|Stomach|Testis|Testis|Testis 0.1970 0.1218 0.2474 0.2341 0.0326 0.2016 0.2270 0.2136 0.1449 0.1813 0.1259 0.2446 0.2583 0.0310 0.1941 0.2202 0.2055 het 1313.61 97 22 30891294 . G C 1313.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.725;DP=97;Dels=0.00;FS=0.978;HRun=1;HaplotypeScore=0.8941;MQ=59.14;MQ0=0;MQRankSum=0.293;QD=13.54;ReadPosRankSum=0.993;VQSLOD=5.8801;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:46,51:97:99:1344,0,1292 22 30901592 30901592 T C exonic SEC14L4 nonsynonymous SNV SEC14L4:NM_001161368:exon1:c.A7G:p.S3G,SEC14L4:NM_174977:exon1:c.A7G:p.S3G 0.21 0.27 0.3 0.04 0.25 0.17 0.3250 0.3635 0.4353 0.0829 0.4682 0.3890 0.2670 0.2018 0.23 0.23 0.23 0.12 0.098 rs9608956 COSM4156139 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.810 P -2.52 0.001 N 1.75 0.262 T 3.65 0.001 N 0.054 0.045 -0.971 0.370 T 0.000 0.000 T . . . 1.284 0.219 12.18 0.897 0.185 0.041 0.095 N c -1.010 -0.677 1.000 0.747 0.652 0.477 0 3.73 0.418 4.031 0.567 -0.013 0.131 1.000 0.715 0.794 0.334 10.327 0.428 CRAL-TRIO lipid binding domain|CRAL/TRIO\x2c N-terminal domain ENSG00000133488.10|ENSG00000214161.3|ENSG00000133488.10|ENSG00000214491.4|ENSG00000181123.4|ENSG00000133488.10|ENSG00000214161.3|ENSG00000133488.10|ENSG00000181123.4 Cells_Transformed_fibroblasts|Lung|Lung|Lung|Lung|Stomach|Testis|Testis|Testis 0.2235 0.2537 0.2614 0.2556 0.0330 0.2559 0.2474 0.2414 0.1769 0.2400 0.2576 0.2440 0.2748 0.0315 0.2566 0.2470 0.2495 het 193.64 16 22 30901592 . T C 193.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DP=16;Dels=0.00;FS=4.467;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.212;QD=12.10;ReadPosRankSum=0.741;VQSLOD=6.1795;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,9:16:99:224,0,213 22 30953295 30953295 C T exonic GAL3ST1 nonsynonymous SNV GAL3ST1:NM_001318103:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318105:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318109:exon2:c.G160A:p.V54M,GAL3ST1:NM_001318111:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318112:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318114:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318104:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318106:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318107:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318108:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318110:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318113:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318115:exon3:c.G85A:p.V29M,GAL3ST1:NM_004861:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318116:exon4:c.G85A:p.V29M 0.31 0.36 0.25 0.35 0.33 0.22 0.3065 0.3663 0.2234 0.3284 0.3215 0.3304 0.2759 0.2152 0.34 0.37 0.32 0.34 0.31 rs2267161 . . . . . . . . . . . . . 0.051 0.465 T 0.137 0.258 B 0.106 0.296 B 0.003 0.361 N 0.925 0.272 P 0.55 0.145 N 2.18 0.189 T 0.16 0.110 N 0.07 0.432 -0.893 0.487 T 0.000 0.000 T . . . 3.235 0.448 22.8 0.993 0.576 0.598 0.308 D c -0.581 -0.444 0.998 0.358 0.778 0.996 0 1.09 0.194 1.525 0.353 0.049 0.161 1.000 0.715 0.993 0.574 7.679 0.275 . ENSG00000214491.4 Esophagus_Muscularis 0.3022 0.3660 0.2258 0.3809 0.3228 0.3369 0.3235 0.3006 0.2151 0.3223 0.3534 0.2518 0.4007 0.3309 0.3193 0.3089 0.2848 het 1298.66 134 22 30953295 . C T 1298.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.034;DP=134;Dels=0.00;FS=8.121;HRun=0;HaplotypeScore=3.9831;MQ=58.79;MQ0=0;MQRankSum=0.928;QD=9.69;ReadPosRankSum=-0.882;VQSLOD=4.5599;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,57:134:99:1329,0,2009 22 31011610 31011610 G C exonic TCN2 nonsynonymous SNV TCN2:NM_000355:exon6:c.G776C:p.R259P,TCN2:NM_001184726:exon6:c.G695C:p.R232P 0.58 0.78 0.64 0.44 0.57 0.41 0.5673 0.7598 0.6671 0.4310 0.6253 0.5703 0.5817 0.4114 0.63 0.77 0.57 0.67 0.62 rs1801198 COSM4002151 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign TCN2_POLYMORPHISM|Transcobalamin_II_deficiency|not_specified RCV000000117.2|RCV000374451.1|RCV000454394.1 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0342701:275350:ORPHA859:237934001|CN169374 . . . . . . 1.0 0.029 T 0.0 0.026 B 0.0 0.013 B 0.613 0.057 N 1 0.090 P -1.54 0.005 N 1.41 0.334 T 1.29 0.010 N 0.132 0.152 -0.953 0.405 T 0.000 0.000 T . . . 0.184 0.111 4.508 0.250 0.011 0.012 0.042 N c -1.296 -1.181 1.000 0.747 0.707 0.730 0 4.13 0.475 0.373 0.201 0.067 0.174 0.000 0.063 0.000 0.016 13.246 0.593 Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid ENSG00000100029.13|ENSG00000100036.11|ENSG00000100029.13|ENSG00000100029.13 Pancreas|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5700 0.7648 0.6663 0.5926 0.4300 0.6352 0.5631 0.5817 0.4147 0.6173 0.7556 0.6579 0.6225 0.3941 0.6380 0.5560 0.5820 hom 3082.08 90 22 31011610 . G C 3082.08 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=34.25;VQSLOD=9.0604;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3115,241,0 22 31013419 31013419 C T exonic TCN2 nonsynonymous SNV TCN2:NM_000355:exon7:c.C1043T:p.S348F,TCN2:NM_001184726:exon7:c.C962T:p.S321F 0.11 0.17 0.2 0.001 0.1 0.086 0.1119 0.1561 0.1450 0.0001 0.1578 0.1166 0.1369 0.0804 0.13 0.15 0.11 0.14 0.12 rs9621049 . . Likely benign Transcobalamin_II_deficiency RCV000301606.1 MedGen:OMIM:Orphanet:SNOMED_CT C0342701:275350:ORPHA859:237934001 . . . . . . 0.159 0.239 T 0.0 0.090 B 0.001 0.040 B 0.815 0.068 N 1 0.090 P 1.03 0.257 L 1.09 0.392 T -2.55 0.551 D 0.063 0.135 -1.025 0.220 T 0.000 0.001 T . . . -0.089 0.085 1.815 0.682 0.083 0.010 0.038 N c -1.568 -1.629 0.992 0.327 0.707 0.730 0 -5.28 0.025 -1.009 0.037 -0.964 0.024 0.000 0.063 0.002 0.062 5.955 0.184 . ENSG00000100036.11|ENSG00000100036.11|ENSG00000100036.11|ENSG00000100036.11|ENSG00000185339.4 Adipose_Subcutaneous|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.1143 0.1588 0.1491 0.1081 0.0003 0.1541 0.1161 0.1275 0.0827 0.1278 0.1557 0.1627 0.11 0 0.1602 0.1170 0.1153 het 1965.62 129 22 31013419 . C T 1965.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.223;DP=129;Dels=0.00;FS=1.412;HRun=1;HaplotypeScore=5.0572;MQ=58.67;MQ0=0;MQRankSum=0.800;QD=15.24;ReadPosRankSum=-0.174;VQSLOD=5.3985;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,68:129:99:1996,0,1627 22 31032881 31032881 G A exonic SLC35E4 synonymous SNV SLC35E4:NM_001001479:exon1:c.G444A:p.L148L,SLC35E4:NM_001318370:exon1:c.G444A:p.L148L,SLC35E4:NM_001318371:exon1:c.G444A:p.L148L 0.088 0.3 0.03 . 0.015 0.0092 0.0397 0.2958 0.0136 0.0001 0.0157 0.0208 0.0238 0.0083 0.11 0.28 0.02 0.17 0.041 rs8136373 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0336 0.2912 0.0171 0.0221 5.825e-05 0.0172 0.0210 0.0219 0.0086 0.0939 0.2827 0.0251 0.0066 0 0.0155 0.0232 0.0164 het 264.23 21 22 31032881 . G A 264.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.643;DP=21;Dels=0.00;FS=7.701;HRun=0;HaplotypeScore=0.5784;MQ=57.99;MQ0=0;MQRankSum=0.038;QD=12.58;ReadPosRankSum=1.550;VQSLOD=3.8515;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,10:21:99:294,0,275 22 31032920 31032920 A G exonic SLC35E4 synonymous SNV SLC35E4:NM_001001479:exon1:c.A483G:p.P161P,SLC35E4:NM_001318370:exon1:c.A483G:p.P161P,SLC35E4:NM_001318371:exon1:c.A483G:p.P161P 0.63 0.9 0.68 0.45 0.6 0.42 0.5929 0.8522 0.6882 0.4466 0.6466 0.5963 0.6083 0.4181 0.68 0.84 0.6 0.64 0.55 rs5997714 COSM1415741 4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5927 0.8574 0.6902 0.5913 0.4450 0.6498 0.5889 0.5978 0.4162 0.6595 0.8472 0.6718 0.6258 0.4158 0.6503 0.5828 0.5869 hom 831.08 26 22 31032920 . A G 831.08 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=31.96;VQSLOD=9.1943;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:75.21:864,75,0 22 31042616 31042616 G A exonic SLC35E4 synonymous SNV SLC35E4:NM_001001479:exon2:c.G651A:p.A217A 0.001 0.0008 0.0043 . 0.001 . 0.0020 0.0011 0.0003 0 0.0036 0.0029 0.0012 7.512e-05 0.0023 0.0007 0.0031 . 0.0082 rs148808100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0020 0.0009 0.0005 0.0012 0 0.0040 0.0032 0.0026 3.3e-05 0.0027 0.0005 0.0012 0.0033 0 0.0034 0.0041 0.0031 het 722.32 57 22 31042616 . G A 722.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.288;DP=57;Dels=0.00;FS=4.575;HRun=0;HaplotypeScore=2.5165;MQ=58.52;MQ0=0;MQRankSum=0.412;QD=12.67;ReadPosRankSum=1.153;VQSLOD=3.7473;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,29:57:99:752,0,751 22 31266546 31266546 T C exonic OSBP2 synonymous SNV OSBP2:NM_001282741:exon2:c.T210C:p.A70A,OSBP2:NM_001282739:exon3:c.T984C:p.A328A,OSBP2:NM_030758:exon3:c.T984C:p.A328A,OSBP2:NM_001282738:exon4:c.T489C:p.A163A 0.71 0.74 0.67 0.82 0.63 0.65 0.6577 0.7198 0.6296 0.8198 0.7409 0.6273 0.6723 0.6440 0.66 0.73 0.62 0.79 0.64 rs2301816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6571 0.7191 0.6357 0.6019 0.8227 0.7489 0.6220 0.6366 0.6390 0.6717 0.7125 0.6480 0.6159 0.8150 0.7410 0.6192 0.6639 het 851.24 79 22 31266546 . T C 851.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.558;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.71;MQ0=0;MQRankSum=-0.844;QD=10.78;ReadPosRankSum=0.143;VQSLOD=6.0586;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,35:79:99:881,0,1266 22 31302233 31302233 T C exonic OSBP2 synonymous SNV OSBP2:NM_001282742:exon12:c.T1290C:p.D430D,OSBP2:NM_001282740:exon13:c.T1557C:p.D519D,OSBP2:NM_001282741:exon13:c.T1887C:p.D629D,OSBP2:NM_001282739:exon14:c.T2655C:p.D885D,OSBP2:NM_030758:exon14:c.T2658C:p.D886D,OSBP2:NM_001282738:exon15:c.T2160C:p.D720D 0.48 0.61 0.36 0.69 0.32 0.33 0.3643 0.5696 0.3012 0.6870 0.3289 0.3216 0.3422 0.3059 0.4 0.54 0.32 0.45 0.36 rs3804085 COSM3759126;COSM5619104;COSM3759125 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3613 0.5761 0.3062 0.3390 0.6875 0.3288 0.3220 0.3473 0.3071 0.4146 0.5679 0.3329 0.3477 0.6828 0.3276 0.3284 0.3251 het 1143.93 111 22 31302233 . T C 1143.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.876;DP=111;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4326;MQ=59.12;MQ0=0;MQRankSum=-0.073;QD=10.31;ReadPosRankSum=-1.294;VQSLOD=5.1055;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,51:111:99:1174,0,1400 22 31333631 31333631 T C exonic MORC2 synonymous SNV MORC2:NM_001303256:exon15:c.A1437G:p.P479P,MORC2:NM_001303257:exon15:c.A1437G:p.P479P,MORC2:NM_014941:exon16:c.A1251G:p.P417P 0.47 0.59 0.35 0.69 0.31 0.32 0.3558 0.5530 0.2941 0.6856 0.3252 0.3123 0.3315 0.2912 0.4 0.54 0.32 0.45 0.35 rs3747151 COSM3759128;COSM3759127 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3528 0.5609 0.2996 0.3336 0.6863 0.3246 0.3136 0.3370 0.2920 0.4069 0.5540 0.3258 0.3411 0.6828 0.3227 0.3225 0.3211 het 949.11 77 22 31333631 . T C 949.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.942;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.5609;MQ=59.40;MQ0=0;MQRankSum=0.270;QD=12.33;ReadPosRankSum=-0.189;VQSLOD=4.5022;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,37:77:99:979,0,1111 22 31342376 31342376 G C exonic MORC2 synonymous SNV MORC2:NM_001303256:exon6:c.C378G:p.T126T,MORC2:NM_001303257:exon6:c.C378G:p.T126T,MORC2:NM_014941:exon7:c.C192G:p.T64T 0.35 0.21 0.33 0.65 0.31 0.3 0.3193 0.2314 0.2768 0.6334 0.3249 0.3110 0.3161 0.2715 0.29 0.25 0.32 0.29 0.36 rs2072132 COSM3759129;COSM3759130 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3201 0.2309 0.2738 0.3255 0.6344 0.3244 0.3112 0.3126 0.2675 0.3125 0.2398 0.3043 0.3377 0.6196 0.3235 0.3204 0.2935 het 2957.23 250 22 31342376 . G C 2957.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.312;DP=250;DS;Dels=0.00;FS=2.831;HRun=0;HaplotypeScore=10.9405;MQ=58.95;MQ0=1;MQRankSum=-1.653;QD=11.83;ReadPosRankSum=-0.312;VQSLOD=2.8258;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:2987,0,3385 22 31491295 31491295 G C exonic SMTN nonsynonymous SNV SMTN:NM_001207018:exon11:c.G1807C:p.A603P,SMTN:NM_006932:exon12:c.G1639C:p.A547P,SMTN:NM_134269:exon12:c.G1639C:p.A547P,SMTN:NM_134270:exon12:c.G1639C:p.A547P,SMTN:NM_001207017:exon13:c.G1894C:p.A632P 0.49 0.52 0.52 0.12 0.67 0.64 0.5816 0.5053 0.4685 0.1147 0.5757 0.6645 0.6131 0.6189 0.61 0.5 0.66 0.43 0.61 rs3205187 COSM4416746;COSM4416747;COSM4416748 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.063 B 0.002 0.373 N 1.000 0.204 P -2.2 0.001 N 0.2 0.925 T 2.27 0.018 N 0.03 0.103 -0.975 0.361 T 0.000 0.000 T . . . 0.832 0.173 9.663 0.603 0.063 0.011 0.039 N c -1.002 -0.792 0.992 0.327 0.672 0.522 0 3.9 0.441 1.488 0.349 0.067 0.174 0.765 0.291 0.804 0.337 11.344 0.486 . ENSG00000185133.9|ENSG00000185133.9|ENSG00000198089.10|ENSG00000198832.6|ENSG00000198089.10|ENSG00000198089.10|ENSG00000198832.6|ENSG00000185133.9|ENSG00000198832.6|ENSG00000198089.10|ENSG00000198089.10 Artery_Tibial|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Pancreas|Testis|Testis|Thyroid|Whole_Blood 0.5750 0.4993 0.4750 0.6647 0.1126 0.5737 0.6645 0.6181 0.6215 0.5593 0.4974 0.5060 0.6523 0.1097 0.5690 0.6412 0.5849 hom 3109.85 101 22 31491295 . G C 3109.85 Mask AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7292;MQ=58.55;MQ0=0;QD=30.79;VQSLOD=8.4370;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,101:101:99:3143,238,0 22 31521850 31521850 A C exonic INPP5J synonymous SNV INPP5J:NM_001284285:exon2:c.A1125C:p.T375T,INPP5J:NM_001284286:exon3:c.A924C:p.T308T,INPP5J:NM_001284288:exon3:c.A24C:p.T8T,INPP5J:NM_001284289:exon4:c.A24C:p.T8T 0.75 0.62 0.86 0.6 0.83 0.93 0.7993 0.6556 0.8325 0.6283 0.8060 0.8038 0.8466 0.9219 0.76 0.67 0.8 0.69 . rs2240431 COSM444884 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7993 0.6378 0.8267 0.8311 0.6258 0.8124 0.7996 0.8210 0.9204 0.7411 0.6295 0.8278 0.8 0.6422 0.8036 0.7932 0.7872 hom 958.74 30 22 31521850 . A C 958.74 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.23;MQ0=0;QD=31.96;VQSLOD=9.8129;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:78.24:992,78,0 22 31529463 31529463 C A exonic INPP5J synonymous SNV INPP5J:NM_001284287:exon10:c.C1098A:p.T366T,INPP5J:NM_001002837:exon11:c.C1299A:p.T433T,INPP5J:NM_001284285:exon11:c.C2403A:p.T801T,INPP5J:NM_001284286:exon12:c.C2202A:p.T734T,INPP5J:NM_001284288:exon12:c.C1302A:p.T434T,INPP5J:NM_001284289:exon13:c.C1302A:p.T434T 0.26 0.19 0.28 0.021 0.39 0.45 0.3261 0.2172 0.1815 0.0164 0.3391 0.3806 0.3657 0.4242 0.33 0.21 0.39 0.26 . rs35342535 COSM4156157;COSM4156158 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3232 0.2118 0.1955 0.4922 0.0155 0.3376 0.3772 0.3624 0.4234 0.2888 0.2146 0.2344 0.4603 0.0148 0.3359 0.3474 0.3303 het 747.77 58 22 31529463 . C A 747.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.661;DP=58;Dels=0.00;FS=1.050;HRun=0;HaplotypeScore=0.7340;MQ=59.68;MQ0=0;MQRankSum=1.294;QD=12.89;ReadPosRankSum=-0.670;VQSLOD=6.2239;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,31:58:99:778,0,716 22 31533796 31533796 G C exonic PLA2G3 nonsynonymous SNV PLA2G3:NM_015715:exon4:c.C966G:p.S322R 0.17 0.0053 0.14 0.38 0.08 0.3 0.1257 0.0173 0.1229 0.3584 0.1459 0.0712 0.1432 0.2853 0.054 0.021 0.071 0.12 0.057 rs2072193 COSM3759131;COSM3759132 1(urinary_tract);1(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.926 0.495 P 0.454 0.444 P 0.034 0.248 N 1 0.090 P 1.87 0.498 L 2.59 0.133 T -1.73 0.410 N 0.056 0.039 -0.928 0.445 T 0.000 0.000 T . . . 2.078 0.311 16.71 0.984 0.404 0.034 0.085 N c -0.406 -0.605 0.999 0.375 0.672 0.522 0 -1.49 0.082 -0.276 0.085 1.048 0.713 0.000 0.063 0.208 0.219 4.984 0.134 . . . 0.1292 0.0150 0.1221 0.0648 0.3577 0.1504 0.0715 0.1093 0.2789 0.0946 0.0177 0.1100 0.0596 0.3772 0.1532 0.0940 0.1071 het 2945.95 226 22 31533796 . G C 2945.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.822;DP=226;Dels=0.00;FS=2.979;HRun=1;HaplotypeScore=10.2178;MQ=59.00;MQ0=0;MQRankSum=-1.545;QD=13.04;ReadPosRankSum=-0.643;VQSLOD=3.4559;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,106:226:99:2976,0,3354 22 31533967 31533967 G A exonic PLA2G3 synonymous SNV PLA2G3:NM_015715:exon4:c.C795T:p.Y265Y 0.54 0.47 0.44 0.39 0.57 0.8 0.5658 0.4770 0.3770 0.3947 0.6595 0.5897 0.6148 0.7753 0.54 0.47 0.58 0.48 0.38 rs2074739 COSM3759134;COSM3759133 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5606 0.4709 0.3883 0.5675 0.3914 0.6646 0.5864 0.5873 0.7615 0.5531 0.4781 0.3998 0.4967 0.4200 0.6541 0.5931 0.6155 het 719.05 48 22 31533967 . G A 719.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.538;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.13;MQ0=0;MQRankSum=-0.484;QD=14.98;ReadPosRankSum=-1.173;VQSLOD=6.4988;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,27:48:99:749,0,529 22 31535872 31535872 G C exonic PLA2G3 nonsynonymous SNV PLA2G3:NM_015715:exon1:c.C469G:p.L157V 0.17 0.0053 0.12 0.38 0.081 0.29 0.1256 0.0187 0.1283 0.3531 0.1461 0.0729 0.1402 0.2766 0.056 0.024 0.073 0.12 0.057 rs2074735 COSM3759136;COSM3759135 2(large_intestine) . . . . . . . . . . . 0.011 0.555 D 0.999 0.764 D 0.984 0.745 D 0.000 0.629 D 0.000 0.495 P 2.585 0.758 M 1.52 0.307 T -1.45 0.356 N 0.311 0.372 -1.015 0.252 T 0.000 0.000 T . . . 5.327 0.721 25.8 0.998 0.912 0.902 0.508 D c 0.583 0.506 1.000 0.747 0.733 0.969 0 4.16 0.480 2.683 0.464 0.902 0.416 0.998 0.411 0.982 0.498 10.882 0.460 Phospholipase A2 domain . . 0.1280 0.0168 0.1244 0.0650 0.3493 0.1500 0.0729 0.1072 0.2708 0.0951 0.0196 0.1077 0.0533 0.3690 0.1528 0.0956 0.1084 het 1100.41 69 22 31535872 . G C 1100.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.213;DP=69;Dels=0.00;FS=0.974;HRun=0;HaplotypeScore=2.3782;MQ=59.73;MQ0=0;MQRankSum=-1.039;QD=15.95;ReadPosRankSum=0.261;VQSLOD=5.8215;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,40:69:99:1130,0,713 22 31536133 31536133 A C exonic PLA2G3 nonsynonymous SNV PLA2G3:NM_015715:exon1:c.T208G:p.S70A 0.83 0.72 0.86 0.93 0.79 0.9 0.8103 0.7094 0.8868 0.9223 0.7829 0.7825 0.8186 0.8837 0.75 0.7 0.78 0.83 0.57 rs2232176 COSM1484160;COSM444888 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.767 0.034 T 0.0 0.026 B 0.0 0.013 B 0.889 0.073 N 1 0.090 P -1.59 0.004 N 2.75 0.116 T 0.04 0.065 N 0.014 0.002 -1.025 0.221 T 0.000 0.000 T . . . -0.392 0.062 0.404 0.239 0.010 0.004 0.021 N c -1.194 -1.012 1.000 0.517 0.583 0.331 0 3.58 0.400 1.018 0.294 0.067 0.174 0.023 0.197 0.245 0.227 7.119 0.245 . ENSG00000198089.10|ENSG00000198832.6|ENSG00000198089.10|ENSG00000100078.3|ENSG00000198089.10|ENSG00000182541.13 Colon_Sigmoid|Pancreas|Spleen|Testis|Thyroid|Thyroid 0.8151 0.7042 0.8810 0.8652 0.9202 0.7946 0.7747 0.8209 0.8831 0.7634 0.7008 0.8648 0.7848 0.9302 0.7839 0.7694 0.7841 hom 3934.67 117 22 31536133 . A C 3934.67 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;QD=33.63;VQSLOD=9.3262;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3934,304,0 22 31663842 31663842 C G exonic LIMK2 synonymous SNV LIMK2:NM_001031801:exon9:c.C1146G:p.L382L,LIMK2:NM_016733:exon9:c.C1146G:p.L382L,LIMK2:NM_005569:exon10:c.C1209G:p.L403L 0.84 0.99 0.75 0.88 0.73 0.81 0.7607 0.9499 0.7276 0.8691 0.6512 0.7275 0.7328 0.7871 0.8 0.95 0.72 0.85 0.7 rs2228619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7537 0.9548 0.7291 0.8203 0.8611 0.6611 0.7200 0.7582 0.7869 0.7727 0.9463 0.7410 0.7285 0.8583 0.6546 0.6973 0.7016 het 2039.37 159 22 31663842 . C G 2039.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.490;DP=159;Dels=0.00;FS=2.834;HRun=0;HaplotypeScore=6.6466;MQ=59.33;MQ0=0;MQRankSum=-0.322;QD=12.83;ReadPosRankSum=-0.099;VQSLOD=4.5994;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:85,74:159:99:2069,0,2254 22 31679110 31679110 G C exonic PIK3IP1 nonsynonymous SNV PIK3IP1:NM_052880:exon6:c.C752G:p.T251S 0.84 0.99 0.75 0.88 0.73 0.81 0.7734 0.9505 0.7490 0.8754 0.6789 0.7398 0.7524 0.7941 0.8 0.95 0.72 0.85 0.61 rs2040533 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.060 0.222 N 1 0.230 P -2.24 0.001 N 0.98 0.421 T 0.72 0.021 N 0.018 0.003 -0.984 0.340 T 0.000 0.000 T . . . -1.741 0.012 0.002 0.502 0.043 0.031 0.079 N c -1.572 -1.404 1.000 0.747 0.672 0.522 0 1.32 0.208 0.257 0.180 -0.331 0.074 0.008 0.178 0.546 0.279 2.227 0.037 . ENSG00000198089.10|ENSG00000198089.10|ENSG00000198089.10|ENSG00000198089.10|ENSG00000198089.10|ENSG00000198089.10|ENSG00000198089.10|ENSG00000198832.6|ENSG00000198089.10|ENSG00000100078.3|ENSG00000198089.10|ENSG00000182541.13|ENSG00000138942.11|ENSG00000198089.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Pancreas|Spleen|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.7545 0.9548 0.7296 0.8198 0.8617 0.6622 0.7212 0.7590 0.7873 0.7730 0.9457 0.7446 0.7285 0.8598 0.6542 0.6978 0.7012 het 411.68 28 22 31679110 . G C 411.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.391;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=60.00;MQ0=0;MQRankSum=-0.610;QD=14.70;ReadPosRankSum=-1.049;VQSLOD=5.5494;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,15:28:99:442,0,284 22 31741067 31741067 G A exonic PATZ1 synonymous SNV PATZ1:NM_014323:exon1:c.C522T:p.L174L,PATZ1:NM_032050:exon1:c.C522T:p.L174L,PATZ1:NM_032051:exon1:c.C522T:p.L174L,PATZ1:NM_032052:exon1:c.C522T:p.L174L 0.16 0.014 0.25 0.12 0.28 0.19 0.2406 0.0502 0.2739 0.1307 0.3496 0.2738 0.2693 0.2143 0.2 0.055 0.28 0.14 0.3 rs714909 COSM4156163;COSM4156164 3(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2469 0.0454 0.2713 0.1793 0.1378 0.3395 0.2808 0.2408 0.2144 0.2269 0.0539 0.2584 0.2715 0.1400 0.3454 0.3023 0.2965 het 2498.87 202 22 31741067 . G A 2498.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.386;DP=202;Dels=0.00;FS=1.331;HRun=3;HaplotypeScore=4.8697;MQ=59.67;MQ0=0;MQRankSum=-1.047;QD=12.37;ReadPosRankSum=0.022;VQSLOD=5.2148;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,95:202:99:2529,0,2866 22 31838085 31838085 G A exonic EIF4ENIF1 synonymous SNV EIF4ENIF1:NM_001164502:exon15:c.C1704T:p.S568S,EIF4ENIF1:NM_001164501:exon17:c.C2226T:p.S742S,EIF4ENIF1:NM_019843:exon17:c.C2226T:p.S742S 0.32 0.4 0.3 0.038 0.46 0.39 0.3918 0.4248 0.2169 0.0422 0.4097 0.4616 0.4191 0.3861 0.45 0.42 0.46 0.33 0.43 rs5997988 COSM3759138 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3862 0.4277 0.2385 0.5704 0.0403 0.4179 0.4559 0.4379 0.3817 0.3969 0.4180 0.2871 0.5033 0.0537 0.4026 0.4250 0.3893 het 1529.08 133 22 31838085 . G A 1529.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.577;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5716;MQ=59.83;MQ0=0;MQRankSum=1.159;QD=11.50;ReadPosRankSum=-0.055;VQSLOD=6.0142;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,61:133:99:1559,0,2031 22 31971258 31971258 T C exonic SFI1 nonsynonymous SNV SFI1:NM_001258326:exon8:c.T718C:p.Y240H,SFI1:NM_001258327:exon8:c.T718C:p.Y240H,SFI1:NM_001258325:exon9:c.T892C:p.Y298H,SFI1:NM_001007467:exon10:c.T964C:p.Y322H,SFI1:NM_014775:exon10:c.T964C:p.Y322H 0.96 0.89 0.99 0.99 0.96 0.98 0.9560 0.9040 0.9800 0.9864 0.9563 0.9515 0.9611 0.9722 0.94 0.91 0.95 0.89 0.97 rs5753700 . . . . . . . . . . . . . 0.881 0.039 T 0.0 0.026 B 0.0 0.040 B 0.257 0.154 N 1 0.090 P -1.63 0.004 N 3.2 0.087 T 1.98 0.004 N 0.391 0.451 -1.012 0.262 T 0.000 0.000 T . . . -0.997 0.032 0.016 0.251 0.011 0.005 0.024 N c -1.390 -1.338 0.003 0.101 0.707 0.730 0 -1.01 0.096 0.223 0.174 -0.332 0.074 0.002 0.151 0.592 0.287 5.113 0.141 . ENSG00000100100.8 Nerve_Tibial 0.9581 0.9003 0.9811 0.9604 0.9851 0.9582 0.9506 0.9619 0.9726 0.9391 0.9049 0.9821 0.9702 0.9790 0.9593 0.9465 0.9458 hom 3313.55 103 22 31971258 . T C 3313.55 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=57.76;MQ0=0;QD=32.17;VQSLOD=8.5112;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:103:99:3280,253,0 22 31998612 31998612 G A exonic SFI1 nonsynonymous SNV SFI1:NM_001258325:exon15:c.G1481A:p.R494Q,SFI1:NM_001258326:exon15:c.G1400A:p.R467Q,SFI1:NM_001258327:exon15:c.G1400A:p.R467Q,SFI1:NM_014775:exon16:c.G1553A:p.R518Q,SFI1:NM_001007467:exon17:c.G1646A:p.R549Q 0.35 0.41 0.38 0.12 0.46 0.37 0.4146 0.4316 0.3333 0.1500 0.4130 0.4687 0.4278 0.3811 0.45 0.42 0.46 0.38 0.45 rs2006771 COSM3759139 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.771 0.043 T 0.023 0.408 B 0.011 0.304 B 0.726 0.099 N 1.000 0.197 P 0.905 0.233 L 1.59 0.288 T -0.03 0.075 N 0.174 0.283 -0.952 0.406 T 0.000 0.000 T . . . 2.115 0.315 16.95 0.958 0.274 0.065 0.124 N c -1.038 -1.022 1.000 0.747 0.707 0.730 0 -3.74 0.041 -0.359 0.076 -0.629 0.042 0.035 0.205 0.313 0.239 11.677 0.505 . ENSG00000198089.10|ENSG00000198089.10|ENSG00000198089.10|ENSG00000236132.1|ENSG00000198089.10|ENSG00000241878.5 Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Small_Intestine_Terminal_Ileum|Whole_Blood|Whole_Blood 0.4132 0.4304 0.3478 0.5851 0.1488 0.4204 0.4612 0.4628 0.3811 0.4119 0.4259 0.3783 0.5232 0.1584 0.4086 0.4324 0.3959 het 2068.74 193 22 31998612 . G A 2068.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.347;DP=193;Dels=0.00;FS=2.545;HRun=1;HaplotypeScore=2.9426;MQ=59.78;MQ0=0;MQRankSum=1.244;QD=10.72;ReadPosRankSum=-0.636;VQSLOD=6.0769;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,81:193:99:2099,0,2909 22 32334021 32334021 T A exonic C22orf24 nonsynonymous SNV C22orf24:NM_001302819:exon1:c.A233T:p.H78L,C22orf24:NM_001302820:exon1:c.A233T:p.H78L,C22orf24:NM_015372:exon2:c.A32T:p.H11L 0.25 0.39 0.19 0.2 0.12 0.28 0.1658 0.3676 0.1634 0.2176 0.2003 0.1033 0.1648 0.2591 0.18 0.35 0.1 0.29 . rs1984388 COSM149280;COSM4002166;COSM4002167 3(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1648 0.3780 0.1612 0.0931 0.2192 0.2030 0.1033 0.1380 0.2553 0.2072 0.3745 0.1695 0.0927 0.2235 0.2092 0.1165 0.1421 het 3147.02 250 22 32334021 . T A 3147.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.003;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9335;MQ=59.26;MQ0=0;MQRankSum=1.197;QD=12.59;ReadPosRankSum=0.505;VQSLOD=5.7039;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:136,114:250:99:3177,0,3750 22 32439274 32439274 C T exonic SLC5A1 synonymous SNV SLC5A1:NM_000343:exon1:c.C6T:p.D2D 0.014 . 0.079 . 0.011 0.0041 0.0151 0.0029 0.0858 0 0.0052 0.0101 0.0207 0.0045 0.0091 0.0045 0.011 0.011 0.033 rs33973317 . . Likely benign Congenital_glucose-galactose_malabsorption RCV000310925.1 MedGen:OMIM:Orphanet:SNOMED_CT C0268186:606824:ORPHA35710:27943000 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0178 0.0029 0.0798 0.0300 5.799e-05 0.0037 0.0095 0.0168 0.0045 0.0082 0.0031 0.0692 0.02 0 0.0069 0.0087 0.0082 het 247.27 34 22 32439274 . C T 247.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.658;DP=34;Dels=0.00;FS=3.267;HRun=0;HaplotypeScore=3.4429;MQ=59.32;MQ0=0;MQRankSum=1.559;QD=7.27;ReadPosRankSum=-0.248;VQSLOD=4.4500;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,13:34:99:277,0,624 22 32554985 32554985 A G exonic C22orf42 nonsynonymous SNV C22orf42:NM_001010859:exon1:c.T218C:p.L73P 0.58 0.85 0.42 0.42 0.48 0.61 0.4922 0.8030 0.3573 0.4303 0.4740 0.4531 0.4835 0.5893 0.57 0.8 0.46 0.6 0.47 rs5998267 COSM5426230 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.095 0.312 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 1.36 0.344 T 4.76 0.000 N 0.023 0.019 -0.996 0.311 T 0.000 0.000 T . . . -0.321 0.067 0.595 0.203 0.007 0.000 0.001 N c -1.914 -2.001 0.000 0.038 0.497 0.185 0 . . -1.342 0.027 -1.281 0.014 0.016 0.191 0.002 0.062 . . . . . 0.4827 0.8151 0.3674 0.4480 0.4312 0.4726 0.4566 0.4602 0.5890 0.5642 0.8108 0.3699 0.4765 0.4242 0.4857 0.4719 0.4867 het 2395.59 250 22 32554985 . A G 2395.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.431;DP=250;DS;Dels=0.00;FS=3.661;HRun=1;HaplotypeScore=2.5367;MQ=59.57;MQ0=0;MQRankSum=-1.001;QD=9.58;ReadPosRankSum=0.367;VQSLOD=5.7340;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:148,102:250:99:2426,0,4134 22 32589023 32589023 C T exonic RFPL2 nonsynonymous SNV RFPL2:NM_006605:exon1:c.G239A:p.C80Y,RFPL2:NM_001159545:exon3:c.G152A:p.C51Y,RFPL2:NM_001159546:exon3:c.G152A:p.C51Y,RFPL2:NM_001098527:exon4:c.G422A:p.C141Y 0.37 0.52 0.27 0.14 0.46 0.36 0.3960 0.5036 0.2196 0.1368 0.3489 0.4567 0.3811 0.3621 0.47 0.5 0.45 0.39 0.41 rs136478 COSM5426168;COSM5426170;COSM5426169 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.032 T 0.286 0.305 B 0.295 0.391 B . . . 1 0.090 P 0.345 0.112 N 2.35 0.162 T 0.61 0.026 N 0.06 0.045 -0.976 0.359 T 0.000 0.000 T . . . -2.172 0.006 0.001 0.335 0.020 0.001 0.006 N c -1.525 -1.651 0.000 0.012 0.554 0.246 0 -1.27 0.088 -0.518 0.063 -0.643 0.041 0.001 0.137 0.001 0.043 . . Zinc finger\x2c RING-type|Zinc finger\x2c RING/FYVE/PHD-type;Zinc finger\x2c RING/FYVE/PHD-type . . 0.3871 0.5033 0.2429 0.4685 0.1386 0.3449 0.4613 0.4070 0.3579 0.4338 0.5106 0.2685 0.5497 0.1324 0.3436 0.4507 0.4163 het 2523.76 185 22 32589023 . C T 2523.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.078;DP=185;Dels=0.00;FS=4.382;HRun=0;HaplotypeScore=7.4842;MQ=57.70;MQ0=0;MQRankSum=0.919;QD=13.64;ReadPosRankSum=-0.375;VQSLOD=4.2094;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,96:185:99:2554,0,2590 22 32590449 32590449 G A exonic RFPL2 nonsynonymous SNV RFPL2:NM_001098527:exon3:c.C148T:p.R50C 0.47 0.82 0.38 0.15 0.48 0.37 0.4579 0.7937 0.3481 0.1481 0.4011 0.4863 0.4309 0.4017 0.56 0.77 0.47 0.5 . rs108211 COSM5426174 2(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.405 0.103 T 0.002 0.090 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 0.21 0.600 T 1.44 0.008 N 0.038 0.018 -0.998 0.305 T 0.000 0.000 T . . . 0.354 0.128 6.203 0.504 0.043 0.001 0.005 N c -1.612 -1.691 0.000 0.012 0.487 0.133 0 -1.32 0.087 -0.809 0.046 -0.705 0.037 0.007 0.175 0.009 0.108 4.348 0.105 . ENSG00000128253.9 Thyroid 0.4358 0.7929 0.3465 0.4738 0.1420 0.3852 0.4813 0.4432 0.3839 0.5314 0.7820 0.3508 0.5633 0.1368 0.3888 0.4756 0.4560 het 83.29 21 22 32590449 . G A 83.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.362;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.20;MQ0=0;MQRankSum=0.662;QD=3.97;ReadPosRankSum=-1.051;VQSLOD=4.3151;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,6:21:99:113,0,361 22 32795641 32795641 C T exonic RTCB synonymous SNV RTCB:NM_014306:exon6:c.G603A:p.Q201Q 0.45 0.64 0.35 0.52 0.3 0.33 0.3881 0.6169 0.3569 0.5366 0.3907 0.3516 0.3910 0.3344 0.44 0.61 0.35 0.51 0.35 rs5749426 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3811 0.6243 0.3544 0.3170 0.5340 0.3915 0.3486 0.3626 0.3380 0.4427 0.6182 0.3462 0.3245 0.5391 0.3932 0.3547 0.3653 het 4340.88 250 22 32795641 . C T 4340.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.406;DP=250;DS;Dels=0.00;FS=0.547;HRun=1;HaplotypeScore=6.4903;MQ=59.46;MQ0=0;MQRankSum=-1.110;QD=17.36;ReadPosRankSum=1.727;VQSLOD=3.5549;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:119,131:250:99:3699,0,3381 22 32811952 32811952 A G exonic BPIFC nonsynonymous SNV BPIFC:NM_174932:exon14:c.T1351C:p.S451P 0.62 0.87 0.58 0.56 0.48 0.52 0.5549 0.8452 0.5648 0.5749 0.5128 0.5175 0.5501 0.5210 0.63 0.84 0.52 0.72 0.43 rs5998478 COSM444914;COSM5427948 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.196 P -2.965 0.000 N 4.9 0.015 T 7.02 0.000 N 0.141 0.165 -1.010 0.270 T 0.000 0.000 T . . . 1.994 0.301 16.17 0.747 0.104 0.012 0.042 N c -0.878 -0.499 0.033 0.141 0.497 0.185 0 5.5 0.813 3.905 0.558 0.122 0.211 1.000 0.715 0.998 0.697 10.873 0.459 Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c C-terminal;Bactericidal permeability-increasing protein\x2c alpha/beta domain|Lipid-binding serum glycoprotein\x2c N-terminal . . 0.5346 0.8488 0.5399 0.4177 0.5547 0.5085 0.5137 0.5174 0.5048 0.6190 0.8401 0.5456 0.4371 0.5737 0.5242 0.5302 0.5381 het 607.49 56 22 32811952 . A G 607.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.157;DP=56;Dels=0.00;FS=1.038;HRun=2;HaplotypeScore=0.0000;MQ=56.02;MQ0=0;MQRankSum=0.389;QD=10.66;ReadPosRankSum=-0.654;VQSLOD=3.5919;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,24:56:99:637,0,780 22 32871383 32871383 T G exonic FBXO7 nonsynonymous SNV FBXO7:NM_001033024:exon1:c.T35G:p.L12R 0.15 0.12 0.22 0.16 0.19 0.11 0.1873 0.1496 0.2025 0.1488 0.2168 0.2064 0.2117 0.1297 0.19 0.15 0.2 0.14 . rs8137714 COSM444916 2(thyroid);1(large_intestine) . . . . . . . . . . . 0.258 0.167 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.354 P . . . 0.81 0.485 T -0.45 0.148 N 0.019 0.171 -1.069 0.095 T 0.000 0.000 T . . . 0.306 0.123 5.750 0.511 0.044 0.011 0.040 N c -1.598 -1.700 1.0 0.983 0.442 0.072 0 -6.13 0.019 -0.301 0.082 -1.351 0.013 0.004 0.165 0.000 0.016 0.584 0.007 . ENSG00000100191.4|ENSG00000100225.13 Adipose_Subcutaneous|Cells_Transformed_fibroblasts 0.1910 0.1471 0.1986 0.2561 0.1432 0.2259 0.2054 0.1990 0.1309 0.1864 0.1444 0.1974 0.2318 0.1422 0.2158 0.2068 0.1918 het 196.20 23 22 32871383 . T G 196.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.267;DP=23;Dels=0.00;FS=1.719;HRun=0;HaplotypeScore=3.5124;MQ=58.99;MQ0=0;MQRankSum=1.336;QD=8.53;ReadPosRankSum=0.067;VQSLOD=5.6493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,10:23:99:226,0,320 22 32875190 32875190 G A exonic FBXO7 startloss FBXO7:NM_001033024:exon2:c.G108A:p.M36I,FBXO7:NM_001257990:exon2:c.G3A:p.Q2_M25del,FBXO7:NM_012179:exon2:c.G345A:p.M115I 0.49 0.4 0.57 0.69 0.37 0.45 0.4400 0.3938 0.6276 0.6908 0.4751 0.3713 0.4593 0.4693 0.37 0.37 0.37 0.49 0.39 rs11107 COSM3759155;COSM3759154;COSM3759153 1(large_intestine) Benign|Benign not_specified|Parkinson_Disease\x2c_Recessive RCV000175837.1|RCV000341646.1 MedGen|MedGen CN169374|CN239372 . . . . . . 0.223 0.187 T 0.0 0.026 B 0.0 0.013 B 0.043 0.019 N 0.000 0.810 P -2.045 0.002 N 1.27 0.361 T -0.17 0.112 N 0.028 0.313 -0.912 0.466 T 0.000 0.000 T . . . -0.384 0.063 0.422 0.394 0.027 0.013 0.044 N c -1.630 -1.578 1.000 0.747 0.745 0.986 0 -3.63 0.042 -0.027 0.122 -0.374 0.066 0.000 0.063 0.013 0.120 0.443 0.005 . ENSG00000100225.13|ENSG00000100225.13|ENSG00000100225.13|ENSG00000100225.13|ENSG00000100225.13|ENSG00000100225.13|ENSG00000100225.13|ENSG00000100225.13 Adipose_Subcutaneous|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.4527 0.3898 0.6072 0.4094 0.6875 0.4817 0.3717 0.4359 0.4736 0.4117 0.3845 0.5299 0.4205 0.6617 0.4730 0.3789 0.4209 het 2414.30 139 22 32875190 . G A 2414.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.336;DP=139;Dels=0.00;FS=0.706;HRun=0;HaplotypeScore=7.8156;MQ=59.25;MQ0=0;MQRankSum=-0.393;QD=17.37;ReadPosRankSum=-1.117;VQSLOD=3.8779;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,89:139:99:2444,0,1405 22 32887150 32887150 C T exonic FBXO7 synonymous SNV FBXO7:NM_001033024:exon6:c.C712T:p.L238L,FBXO7:NM_001257990:exon6:c.C607T:p.L203L,FBXO7:NM_012179:exon6:c.C949T:p.L317L 0.49 0.4 0.57 0.69 0.37 0.45 0.4400 0.3921 0.6274 0.6896 0.4753 0.3716 0.4614 0.4691 0.37 0.37 0.37 0.49 0.32 rs9726 COSM3759157;COSM149284;COSM3759156 1(stomach);1(large_intestine) Benign Parkinson_Disease\x2c_Recessive RCV000362646.1 MedGen CN239372 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4527 0.3884 0.6073 0.4092 0.6875 0.4816 0.3717 0.4363 0.4736 0.4118 0.3835 0.5299 0.4205 0.6613 0.4722 0.3799 0.4192 het 813.20 64 22 32887150 . C T 813.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.134;DP=64;Dels=0.00;FS=0.960;HRun=2;HaplotypeScore=2.9874;MQ=59.61;MQ0=0;MQRankSum=0.470;QD=12.71;ReadPosRankSum=1.451;VQSLOD=6.3096;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,33:64:99:843,0,713 22 33253280 33253280 T C exonic TIMP3 synonymous SNV TIMP3:NM_000362:exon3:c.T249C:p.H83H 0.65 0.88 0.7 0.61 0.48 0.52 0.5518 0.8324 0.7164 0.5861 0.4294 0.4914 0.5308 0.5362 0.61 0.83 0.5 0.75 0.64 rs9862 COSM4002168 1(bone);1(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Pseudoinflammatory_fundus_dystrophy RCV000254229.1|RCV000384049.1 MedGen|MedGen:OMIM CN169374|C1849694:264420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5521 0.8374 0.7080 0.5476 0.5847 0.4285 0.4912 0.5363 0.5369 0.5980 0.8374 0.6993 0.5629 0.5945 0.4422 0.4965 0.5051 het 3122.51 231 22 33253280 . T C 3122.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.653;DP=231;Dels=0.00;FS=3.000;HRun=0;HaplotypeScore=7.9480;MQ=59.41;MQ0=0;MQRankSum=0.379;QD=13.52;ReadPosRankSum=-0.944;VQSLOD=4.6626;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,115:231:99:3153,0,2926 22 34022284 34022284 G A exonic LARGE1 synonymous SNV LARGE1:NM_133642:exon4:c.C435T:p.A145A,LARGE1:NM_004737:exon5:c.C435T:p.A145A 0.41 0.11 0.48 0.56 0.51 0.53 0.4771 0.1570 0.5497 0.5833 0.5257 0.4895 0.5066 0.5013 0.38 0.16 0.48 0.43 0.5 rs86487 COSM4156187 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid) other|Benign|Benign not_specified|Congenital_Muscular_Dystrophy\x2c_alpha-dystroglycan_related|Walker-Warburg_Syndrome RCV000081181.7|RCV000333062.1|RCV000373679.1 MedGen|MedGen|MedGen CN169374|CN239202|CN239483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4884 0.1522 0.5425 0.5400 0.5723 0.5241 0.4877 0.5057 0.5069 0.3985 0.1545 0.5442 0.5265 0.5873 0.5203 0.4768 0.4632 het 910.44 85 22 34022284 . G A 910.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.524;DP=85;Dels=0.00;FS=6.159;HRun=0;HaplotypeScore=3.5469;MQ=59.73;MQ0=0;MQRankSum=-0.305;QD=10.71;ReadPosRankSum=0.084;VQSLOD=4.8919;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:940,0,1256 22 35463162 35463162 A G exonic ISX nonsynonymous SNV ISX:NM_001303508:exon2:c.A82G:p.S28G 0.8 0.88 0.64 0.86 0.67 0.88 0.7227 0.8591 0.6300 0.8690 0.6864 0.6658 0.7274 0.8661 0.73 0.86 0.66 0.73 0.57 rs361863 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.042 0.239 N 1 0.090 P -2.28 0.001 N -2.65 0.902 D 2.0 0.004 N 0.004 0.000 -0.932 0.439 T 0.000 0.000 T . . . 1.102 0.200 11.23 0.824 0.137 0.009 0.034 N c -0.707 -0.448 1.000 0.500 0.487 0.133 0 5.13 0.696 0.478 0.218 0.130 0.216 0.316 0.252 0.983 0.502 9.854 0.401 . . . 0.7142 0.8589 0.6368 0.7428 0.8725 0.6718 0.6579 0.7044 0.8640 0.7342 0.8615 0.6595 0.71 0.8767 0.6843 0.6630 0.7008 het 569.76 44 22 35463162 . A G 569.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DP=44;Dels=0.00;FS=11.766;HRun=1;HaplotypeScore=5.7518;MQ=58.72;MQ0=0;MQRankSum=0.423;QD=12.95;ReadPosRankSum=-0.141;VQSLOD=4.1746;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:23,21:44:99:600,0,552 22 35463179 35463179 T C exonic ISX synonymous SNV ISX:NM_001303508:exon2:c.T99C:p.I33I 0.8 0.88 0.64 0.86 0.67 0.88 0.7243 0.8597 0.6307 0.8681 0.6885 0.6678 0.7376 0.8668 0.73 0.86 0.66 0.73 0.53 rs361668 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7138 0.8585 0.6361 0.7427 0.8719 0.6714 0.6575 0.7053 0.8638 0.7343 0.8617 0.6603 0.7119 0.8769 0.6843 0.6631 0.7025 het 379.53 34 22 35463179 . T C 379.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.705;DP=34;Dels=0.00;FS=6.396;HRun=0;HaplotypeScore=1.7608;MQ=58.90;MQ0=0;MQRankSum=-0.763;QD=11.16;ReadPosRankSum=-0.590;VQSLOD=5.0206;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,15:34:99:410,0,532 22 35463249 35463249 C T exonic ISX nonsynonymous SNV ISX:NM_001303508:exon2:c.C169T:p.P57S 0.58 0.44 0.54 0.78 0.51 0.63 0.5727 0.5037 0.5829 0.8003 0.5625 0.5386 0.5919 0.6225 0.49 0.47 0.49 0.48 0.33 rs362090 COSM4998028 1(pancreas) . . . . . . . . . . . 0.618 0.053 T 0.002 0.090 B 0.001 0.040 B 0.304 0.040 N 1 0.090 P 1.155 0.297 L -2.72 0.906 D -0.18 0.098 N 0.022 0.005 -0.975 0.362 T 0.000 0.000 T . . . -1.420 0.019 0.003 0.447 0.034 0.006 0.027 N c -1.651 -1.700 1.000 0.517 0.487 0.133 0 -6.22 0.019 -2.989 0.007 -2.370 0.003 0.000 0.063 0.000 0.016 1.797 0.029 Homeodomain-like ENSG00000227895.4|ENSG00000227895.4 Cells_EBV-transformed_lymphocytes|Thyroid 0.5416 0.4588 0.5496 0.5859 0.8013 0.5213 0.4920 0.5403 0.6018 0.5131 0.4656 0.5598 0.5828 0.8317 0.5398 0.4954 0.5235 het 84.89 16 22 35463249 . C T 84.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.164;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3471;MQ=58.55;MQ0=0;MQRankSum=0.061;QD=5.31;ReadPosRankSum=-0.429;VQSLOD=3.7756;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:16:99:115,0,309 22 35660875 35660875 G T exonic HMGXB4 nonsynonymous SNV HMGXB4:NM_001003681:exon5:c.G494T:p.G165V 0.45 0.07 0.6 0.52 0.66 0.58 0.5779 0.1525 0.5721 0.5431 0.5997 0.6495 0.6090 0.5677 0.49 0.17 0.66 0.37 0.48 rs1053593 . . . . . . . . . . . . . 0.018 0.546 D 0.012 0.151 B 0.022 0.184 B 0.957 0.077 N 1 0.090 P 0.55 0.145 N 0.95 0.433 T -2.51 0.545 D 0.069 0.068 -0.907 0.472 T 0.000 0.000 T . . . 0.593 0.151 8.104 0.930 0.219 0.478 0.278 N c -1.156 -1.084 1.000 0.414 0.707 0.730 0 1.32 0.208 1.337 0.332 -0.213 0.100 0.184 0.239 0.598 0.288 14.603 0.679 Domain of unknown function DUF4171 ENSG00000100284.16|ENSG00000100284.16|ENSG00000100284.16|ENSG00000100284.16|ENSG00000100284.16|ENSG00000100284.16|ENSG00000273176.1|ENSG00000100284.16 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Pancreas|Spleen|Testis|Whole_Blood 0.5857 0.1455 0.5621 0.6860 0.5384 0.6046 0.6504 0.6222 0.5700 0.4911 0.1501 0.6065 0.7047 0.5527 0.5895 0.6444 0.5749 het 1081.02 103 22 35660875 . G T 1081.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.257;DP=103;Dels=0.00;FS=3.753;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;MQRankSum=-0.714;QD=10.50;ReadPosRankSum=1.132;VQSLOD=6.0932;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:58,45:103:99:1111,0,1589 22 36007045 36007045 G A exonic MB synonymous SNV MB:NM_005368:exon2:c.C204T:p.T68T,MB:NM_203377:exon3:c.C204T:p.T68T,MB:NM_203378:exon3:c.C204T:p.T68T 0.56 0.57 0.48 0.75 0.45 0.55 0.5118 0.5552 0.4910 0.7513 0.4908 0.4770 0.5242 0.5220 0.5 0.55 0.47 0.6 0.39 rs7292 COSM5445274;COSM5445275 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5078 0.5569 0.4833 0.4930 0.7509 0.4983 0.4703 0.4980 0.5229 0.5223 0.5600 0.4403 0.4967 0.7580 0.4903 0.4877 0.5204 hom 4541.18 132 22 36007045 . G A 4541.18 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.48;MQ0=0;QD=34.40;VQSLOD=9.9476;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:4541,358,0 22 36007075 36007075 C T exonic MB synonymous SNV MB:NM_005368:exon2:c.G174A:p.A58A,MB:NM_203377:exon3:c.G174A:p.A58A,MB:NM_203378:exon3:c.G174A:p.A58A 0.53 0.45 0.47 0.75 0.45 0.55 0.5019 0.4527 0.4858 0.7513 0.4909 0.4759 0.5176 0.5217 0.46 0.45 0.47 0.54 0.36 rs7293 COSM1416001;COSM1416000 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4996 0.4496 0.4776 0.4897 0.7512 0.4982 0.4696 0.4905 0.5225 0.4921 0.4554 0.4330 0.4967 0.7590 0.4903 0.4866 0.5163 hom 5085.98 163 22 36007075 . C T 5085.98 Mask AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4871;MQ=59.49;MQ0=0;QD=31.20;VQSLOD=8.4311;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,163:163:99:5085,409,0 22 36122517 36122517 T C exonic APOL5 synonymous SNV APOL5:NM_030642:exon3:c.T402C:p.L134L 0.22 0.12 0.26 0.14 0.34 0.27 0.2962 0.1418 0.2718 0.1306 0.2850 0.3466 0.2909 0.2980 0.27 0.14 0.34 0.21 0.27 rs17723764 COSM3759159 5(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2971 0.1401 0.2829 0.3546 0.1260 0.2813 0.3460 0.3182 0.2987 0.2592 0.1425 0.2943 0.3344 0.1110 0.2833 0.3314 0.2994 hom 4488.14 142 22 36122517 . T C 4488.14 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.71;MQ0=0;QD=31.61;VQSLOD=9.4347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4488,349,0 22 36123083 36123083 C T exonic APOL5 nonsynonymous SNV APOL5:NM_030642:exon3:c.C968T:p.T323M 0.15 0.092 0.2 0.08 0.25 0.15 0.2261 0.1150 0.2305 0.0864 0.2335 0.2717 0.2222 0.1795 0.21 0.12 0.26 0.11 0.15 rs2076672 COSM3759160 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.001 0.784 D 0.998 0.715 D 0.837 0.582 P 0.358 0.137 U 1 0.090 P 1.47 0.371 L 3.7 0.041 T -2.9 0.608 D 0.1 0.103 -0.914 0.464 T 0.000 0.000 T . . . 4.410 0.590 24.1 0.996 0.731 0.055 0.112 N c -0.256 -0.487 1.000 0.500 0.487 0.133 0 1.78 0.238 1.133 0.308 0.789 0.320 0.001 0.137 0.002 0.062 7.039 0.240 . . . 0.2278 0.1124 0.2429 0.2631 0.0829 0.2296 0.2699 0.2317 0.1834 0.2056 0.1149 0.2452 0.2550 0.0774 0.2239 0.2622 0.2474 het 698.94 51 22 36123083 . C T 698.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.702;DP=51;Dels=0.00;FS=2.838;HRun=0;HaplotypeScore=3.2285;MQ=58.72;MQ0=0;MQRankSum=-2.289;QD=13.70;ReadPosRankSum=-0.933;VQSLOD=4.2086;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,25:51:99:729,0,696 22 36537500 36537500 A T exonic APOL3 synonymous SNV APOL3:NM_145640:exon3:c.T957A:p.G319G,APOL3:NM_014349:exon4:c.T744A:p.G248G,APOL3:NM_145639:exon4:c.T744A:p.G248G,APOL3:NM_145642:exon4:c.T357A:p.G119G,APOL3:NM_030644:exon5:c.T744A:p.G248G,APOL3:NM_145641:exon5:c.T357A:p.G119G 0.36 0.065 0.38 0.35 0.5 0.62 0.4488 0.1239 0.3597 0.3275 0.3889 0.4872 0.4669 0.6471 0.37 0.13 0.49 0.34 0.41 rs132618 COSM149285;COSM4156194 1(stomach);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4487 0.1172 0.3651 0.5928 0.3196 0.3905 0.4836 0.4573 0.6446 0.3596 0.1247 0.3902 0.5894 0.2928 0.4019 0.4799 0.4734 het 1624.88 98 22 36537500 . A T 1624.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.533;DP=98;Dels=0.00;FS=8.235;HRun=0;HaplotypeScore=3.7152;MQ=58.95;MQ0=0;MQRankSum=1.376;QD=16.58;ReadPosRankSum=-0.025;VQSLOD=3.6426;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:44,54:98:99:1655,0,1160 22 36537725 36537725 G A exonic APOL3 synonymous SNV APOL3:NM_145640:exon3:c.C732T:p.Y244Y,APOL3:NM_014349:exon4:c.C519T:p.Y173Y,APOL3:NM_145639:exon4:c.C519T:p.Y173Y,APOL3:NM_145642:exon4:c.C132T:p.Y44Y,APOL3:NM_030644:exon5:c.C519T:p.Y173Y,APOL3:NM_145641:exon5:c.C132T:p.Y44Y 0.094 0.098 0.073 0.02 0.16 0.11 0.1301 0.0846 0.0714 0.0177 0.2262 0.1613 0.1471 0.0932 0.13 0.087 0.15 0.11 0.11 rs61731692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1281 0.0818 0.0752 0.1273 0.0185 0.2268 0.1573 0.1335 0.0932 0.1366 0.0838 0.0823 0.0861 0.0228 0.2238 0.1627 0.1477 het 1371.21 95 22 36537725 . G A 1371.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.088;DP=95;Dels=0.00;FS=0.923;HRun=0;HaplotypeScore=1.9779;MQ=60.00;MQ0=0;MQRankSum=-0.742;QD=14.43;ReadPosRankSum=0.235;VQSLOD=5.5794;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,50:95:99:1401,0,1216 22 36556823 36556823 G T exonic APOL3 nonsynonymous SNV APOL3:NM_145640:exon1:c.C117A:p.S39R 0.78 0.44 0.89 0.98 0.86 0.9 0.8306 0.4853 0.9069 0.9760 0.8783 0.8308 0.8521 0.8976 0.72 0.5 0.83 0.72 0.75 rs132653 COSM5003856 1(pancreas) . . . . . . . . . . . 0.029 0.457 D 0.976 0.564 D 0.447 0.442 P 0.005 0.011 N 1 0.189 P 0 0.065 N 3.57 0.623 T 0.23 0.046 N 0.046 0.032 -0.824 0.537 T 0.000 0.000 T . . . -1.240 0.024 0.006 0.750 0.105 0.065 0.124 N c -1.240 -1.444 1.000 0.747 0.428 0.059 0 -4.25 0.035 -0.372 0.075 -1.249 0.015 0.000 0.063 0.000 0.016 0.976 0.013 . . . 0.8418 0.4870 0.9051 0.8704 0.9733 0.8812 0.8260 0.8389 0.8952 0.7512 0.4895 0.8878 0.8311 0.9678 0.8812 0.8341 0.8463 hom 5007.96 166 22 36556823 . G T 5007.96 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=58.77;MQ0=0;QD=30.17;VQSLOD=8.8499;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5007,409,0 22 36587202 36587202 G A exonic APOL4 unknown UNKNOWN 0.65 0.73 0.53 0.82 0.5 0.59 0.5621 0.6748 0.5754 0.8257 0.5674 0.5057 0.5413 0.5701 0.56 0.67 0.5 0.69 . rs6000172 . . . . . . . . . . . . . . . . 0.216 0.285 B 0.102 0.293 B 0.866 0.071 N 1 0.090 P 0.345 0.112 N . . . . . . . . -1.056 0.129 T 0.000 0.000 T . . . 0.710 0.162 8.889 0.697 0.088 0.005 0.024 N c -1.862 -1.981 0.994 0.333 0.549 0.223 0 -4.41 0.033 -0.614 0.057 -3.017 0.001 0.000 0.063 0.000 0.016 0.477 0.005 . ENSG00000231576.1|ENSG00000100336.13|ENSG00000231576.1|ENSG00000225557.1|ENSG00000229088.1|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000231576.1|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5462 0.6705 0.5513 0.4851 0.8329 0.5538 0.4859 0.5300 0.5535 0.5728 0.6707 0.5525 0.53 0.8387 0.5530 0.4956 0.5410 het 406.98 37 22 36587202 . G A 406.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.303;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.261;QD=11.00;ReadPosRankSum=0.904;VQSLOD=6.3013;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,16:37:99:437,0,516 22 36587223 36587223 G T exonic APOL4 unknown UNKNOWN 0.65 0.73 0.53 0.82 0.5 0.59 0.5550 0.6740 0.5681 0.8243 0.5605 0.4971 0.5321 0.5651 0.56 0.67 0.5 0.64 . rs6000173 . . . . . . . . . . . . . . . . 0.996 0.670 D 0.977 0.722 D 0.196 0.167 N 1 0.090 P 2.34 0.674 M . . . . . . . . -1.049 0.147 T 0.000 0.000 T . . . 3.365 0.463 22.9 0.932 0.223 0.055 0.112 N c -0.243 -0.544 0.785 0.239 0.549 0.223 0 1.17 0.199 2.301 0.430 0.849 0.349 0.027 0.200 0.012 0.117 4.685 0.121 . ENSG00000231576.1|ENSG00000100336.13|ENSG00000231576.1|ENSG00000225557.1|ENSG00000229088.1|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000231576.1|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5462 0.6708 0.5519 0.4852 0.8323 0.5535 0.4858 0.5307 0.5538 0.5726 0.6707 0.5525 0.5298 0.8385 0.5530 0.4955 0.5400 het 381.77 32 22 36587223 . G T 381.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.498;DP=32;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=-1.008;QD=11.93;ReadPosRankSum=1.324;VQSLOD=4.8301;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:16,16:32:99:412,0,539 22 36587279 36587279 A G exonic APOL4 unknown UNKNOWN 0.65 0.73 0.53 0.82 0.5 0.59 0.5460 0.6690 0.5554 0.8254 0.5567 0.4866 0.5246 0.5569 0.56 0.68 0.5 0.69 . rs6000174 COSM4156195 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5476 0.6721 0.5531 0.4856 0.8341 0.5548 0.4874 0.5309 0.5547 0.5728 0.6716 0.5525 0.5298 0.8377 0.5533 0.4953 0.5408 het 542.30 48 22 36587279 . A G 542.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.013;DP=48;Dels=0.00;FS=4.231;HRun=0;HaplotypeScore=1.9889;MQ=60.00;MQ0=0;MQRankSum=-1.164;QD=11.30;ReadPosRankSum=-0.457;VQSLOD=5.6163;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,21:48:99:572,0,708 22 36587486 36587486 A G exonic APOL4 unknown UNKNOWN 0.65 0.73 0.53 0.82 0.5 0.59 0.5456 0.6689 0.5571 0.8250 0.5562 0.4860 0.5255 0.5556 0.56 0.66 0.5 0.69 . rs2227167 COSM5652744 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5477 0.6725 0.5537 0.4857 0.8339 0.5548 0.4877 0.5307 0.5546 0.5726 0.6714 0.5525 0.5298 0.8375 0.5527 0.4954 0.5398 het 1373.51 102 22 36587486 . A G 1373.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.151;DP=102;Dels=0.00;FS=5.061;HRun=1;HaplotypeScore=6.4969;MQ=60.00;MQ0=0;MQRankSum=0.044;QD=13.47;ReadPosRankSum=-0.234;VQSLOD=4.6519;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,50:102:99:1404,0,1546 22 36587511 36587511 C T exonic APOL4 unknown UNKNOWN 0.65 0.73 0.53 0.84 0.5 0.59 0.5491 0.6740 0.5567 0.85 0.5675 0.4867 0.5310 0.5567 0.56 0.67 0.5 0.66 . rs2227168 COSM4156196 1(thyroid) . . . . . . . . . . . . . . 0.002 0.090 B 0.002 0.063 B 0.017 0.014 N 1 0.186 P 0 0.065 N . . . . . . . . -1.026 0.218 T 0.000 0.000 T . . . -0.087 0.086 1.826 0.870 0.163 0.002 0.013 N c -1.673 -1.783 1.000 0.747 0.549 0.223 0 -4.03 0.037 -3.826 0.004 -1.541 0.010 0.000 0.063 0.000 0.016 0.722 0.009 . ENSG00000231576.1|ENSG00000100336.13|ENSG00000231576.1|ENSG00000225557.1|ENSG00000229088.1|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000231576.1|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.5511 0.6779 0.5544 0.4857 0.8556 0.5666 0.4880 0.5334 0.5555 0.5778 0.6777 0.5537 0.5331 0.8622 0.5650 0.4965 0.5448 het 1318.95 102 22 36587511 . C T 1318.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.429;DP=102;Dels=0.00;FS=1.621;HRun=0;HaplotypeScore=1.9947;MQ=60.00;MQ0=0;MQRankSum=-0.373;QD=12.93;ReadPosRankSum=-0.171;VQSLOD=6.2222;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:56,46:102:99:1349,0,1612 22 36587704 36587704 T C exonic APOL4 unknown UNKNOWN 0.3 0.39 0.28 0.12 0.32 0.35 0.2941 0.3928 0.1947 0.1106 0.2903 0.3018 0.3163 0.3671 0.31 0.38 0.28 0.32 . rs132700 COSM149286 1(stomach) . . . . . . . . . . . . . . 0.0 0.026 B 0.0 0.013 B 0.942 0.083 N 1 0.090 P -1.795 0.003 N . . . . . . 0.039 0.019 -0.972 0.368 T 0.000 0.000 T . . . -2.255 0.005 0.001 0.228 0.009 0.000 0.003 N c -2.504 -2.442 1.000 0.747 0.549 0.223 0 -1.66 0.078 -0.980 0.039 -1.315 0.013 0.000 0.063 0.000 0.016 5.365 0.153 . . . 0.2854 0.3917 0.1985 0.3784 0.1060 0.2890 0.2929 0.2951 0.3664 0.3040 0.3863 0.1998 0.3444 0.0941 0.2907 0.2877 0.2898 het 1274.06 77 22 36587704 . T C 1274.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.164;DP=77;Dels=0.00;FS=2.024;HRun=0;HaplotypeScore=1.9989;MQ=59.13;MQ0=0;MQRankSum=-0.335;QD=16.55;ReadPosRankSum=0.283;VQSLOD=6.0120;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,44:77:99:1304,0,906 22 36587845 36587845 - CT exonic;splicing APOL4;APOL4 NM_145660:exon5:c.331+1->AG;NM_030643:exon6:c.322+1->AG unknown UNKNOWN 0.68 0.83 0.54 0.82 0.5 0.59 0.5544 0.7682 0.5624 0.8256 0.5561 0.4863 0.5310 0.5559 0.59 0.77 0.5 0.022 . rs5845253 COSM5713389;COSM5713390 5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5551 0.7738 0.5596 0.4862 0.8340 0.5548 0.4880 0.5358 0.5546 0.6010 0.7737 0.5644 0.5201 0.8371 0.5531 0.4940 0.5419 het 3431.30 133 22 36587845 . A ACT 3431.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.555;DP=133;FS=4.327;HRun=0;HaplotypeScore=349.7192;MQ=60.39;MQ0=0;MQRankSum=0.312;QD=25.80;ReadPosRankSum=0.424;set=variant2 GT:AD:DP:GQ:PL 0/1:65,68:133:99:3431,0,2137 22 36587952 36587952 C T exonic APOL4 unknown UNKNOWN 0.64 0.73 0.52 0.82 0.49 0.59 0.5394 0.6622 0.5459 0.8252 0.5544 0.4787 0.5220 0.5532 0.55 0.67 0.5 0.61 . rs2227169 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5336 0.6640 0.5380 0.4500 0.8315 0.5432 0.4730 0.5106 0.5366 0.5665 0.6629 0.5465 0.5099 0.8366 0.5512 0.4892 0.5316 het 1499.40 115 22 36587952 . C T 1499.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.099;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6807;MQ=59.47;MQ0=0;MQRankSum=-0.109;QD=13.04;ReadPosRankSum=0.294;VQSLOD=6.3476;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,58:115:99:1529,0,1520 22 36591380 36591380 A G exonic APOL4 unknown UNKNOWN 0.7 0.87 0.56 0.85 0.5 0.62 0.5704 0.8046 0.5668 0.8512 0.5628 0.4974 0.5454 0.5795 0.61 0.81 0.51 0.78 . rs2007468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5695 0.8092 0.5656 0.5228 0.8572 0.5625 0.4972 0.5535 0.5786 0.6179 0.8083 0.5728 0.5695 0.8505 0.5582 0.5035 0.5550 het 1343.70 121 22 36591380 . A G 1343.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.296;DP=121;Dels=0.00;FS=0.688;HRun=0;HaplotypeScore=2.7972;MQ=59.50;MQ0=0;MQRankSum=-0.974;QD=11.10;ReadPosRankSum=-0.181;VQSLOD=6.2819;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,59:121:99:1374,0,1756 22 36598049 36598049 C G exonic APOL4 unknown UNKNOWN 0.62 0.69 0.48 0.9 0.41 0.56 0.4810 0.6354 0.4893 0.9183 0.4453 0.3885 0.4592 0.5380 0.48 0.63 0.39 0.65 . rs80587 COSM4998815 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.200 P . . . 3.88 0.036 T 0.14 0.054 N 0.016 0.003 -0.967 0.377 T 0.000 0.000 T . . . -0.656 0.047 0.092 0.773 0.114 0.000 0.002 N c -1.457 -1.540 1.000 0.747 0.497 0.185 0 0.181 0.143 0.106 0.151 -0.173 0.105 0.001 0.137 0.022 0.137 3.603 0.075 . ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid 0.4811 0.6327 0.4923 0.4728 0.9218 0.4525 0.3823 0.4498 0.5334 0.4988 0.6184 0.4821 0.4733 0.9110 0.4493 0.4022 0.4454 het 1202.83 93 22 36598049 . C G 1202.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.363;DP=93;Dels=0.00;FS=0.818;HRun=1;HaplotypeScore=0.9983;MQ=58.68;MQ0=0;MQRankSum=-1.165;QD=12.93;ReadPosRankSum=-0.434;VQSLOD=5.0339;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,48:93:99:1233,0,1172 22 36598058 36598058 T C exonic APOL4 unknown UNKNOWN 0.62 0.69 0.48 0.9 0.41 0.56 0.4810 0.6356 0.4894 0.9183 0.4453 0.3885 0.4615 0.5381 0.48 0.63 0.39 0.65 . rs132736 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.023 0.016 N 1 0.209 P . . . 3.95 0.034 T 0.13 0.055 N 0.007 0.002 -0.972 0.369 T 0.000 0.000 T . . . -2.998 0.001 0.001 0.481 0.039 0.002 0.011 N c -1.905 -1.985 1.000 0.747 0.497 0.185 0 -0.9 0.100 -0.403 0.072 -2.095 0.004 0.000 0.063 0.001 0.043 3.552 0.073 . ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid 0.4814 0.6328 0.4928 0.4726 0.9221 0.4527 0.3827 0.4498 0.5338 0.4989 0.6186 0.4833 0.4733 0.9098 0.4490 0.4022 0.4462 het 1266.46 104 22 36598058 . T C 1266.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.599;DP=104;Dels=0.00;FS=0.747;HRun=0;HaplotypeScore=1.7287;MQ=58.82;MQ0=0;MQRankSum=-0.036;QD=12.18;ReadPosRankSum=-0.602;VQSLOD=6.2348;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,54:104:99:1296,0,1307 22 36598081 36598081 A T exonic APOL4 unknown UNKNOWN 0.077 0.042 0.073 0.069 0.14 0.064 0.0847 0.0371 0.0434 0.0622 0.1105 0.1050 0.1046 0.0621 0.084 0.037 0.11 0.098 . rs6000181 . . . . . . . . . . . . . 0.002 0.721 D 0.043 0.202 B 0.003 0.080 B 0.018 0.015 U 0 0.810 P . . . 3.94 0.034 T -0.62 0.183 N 0.34 0.401 -1.018 0.243 T 0.000 0.002 T . . . 0.978 0.188 10.53 0.788 0.120 0.004 0.020 N c -1.182 -1.356 1.000 0.747 0.554 0.283 0 -3.55 0.043 -0.399 0.073 -0.581 0.045 0.000 0.063 0.000 0.016 4.716 0.122 . ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13|ENSG00000100336.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cortex|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood 0.0833 0.0338 0.0439 0.1197 0.0595 0.1081 0.1038 0.0951 0.0585 0.0815 0.0366 0.0489 0.1093 0.0526 0.1128 0.1038 0.0949 het 1368.81 122 22 36598081 . A T 1368.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.778;DP=122;Dels=0.00;FS=5.632;HRun=1;HaplotypeScore=0.9997;MQ=59.29;MQ0=0;MQRankSum=0.569;QD=11.22;ReadPosRankSum=0.379;VQSLOD=5.1376;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,59:122:99:1399,0,1546 22 36623731 36623731 T C exonic APOL2 nonsynonymous SNV APOL2:NM_030882:exon5:c.A733G:p.I245V,APOL2:NM_145637:exon6:c.A733G:p.I245V 1. 1. 1. 1. 1. 1. 0.9999 0.9998 1 1 1 0.9999 1 1 . . . 1. 1. rs132760 COSM4590491 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 hom 7612.07 224 22 36623731 . T C 7612.07 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.716;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0305;MQ=59.54;MQ0=0;MQRankSum=1.670;QD=33.98;ReadPosRankSum=1.233;VQSLOD=5.0080;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,221:224:99:7528,590,0 22 36661330 36661330 G A exonic APOL1 nonsynonymous SNV APOL1:NM_001136541:exon5:c.G394A:p.E132K,APOL1:NM_001136540:exon6:c.G448A:p.E150K,APOL1:NM_003661:exon6:c.G448A:p.E150K,APOL1:NM_145343:exon7:c.G496A:p.E166K 0.68 0.31 0.84 0.8 0.78 0.84 0.7800 0.3534 0.8929 0.8330 0.8471 0.8049 0.7974 0.8136 0.65 0.37 0.8 0.63 0.82 rs2239785 . . . . . . . Glomerulosclerosis . . 20668430 rs2239785 5E-13 0.426 0.096 T 0.986 0.596 D 0.86 0.594 P 0.015 0.284 N 1 0.090 P 1.06 0.271 L 3.9 0.035 T -2.16 0.488 N 0.127 0.310 -0.927 0.446 T 0.000 0.000 T . . . 2.335 0.342 18.40 0.989 0.483 0.009 0.034 N c -0.699 -0.954 0.832 0.247 0.707 0.730 0 -2.18 0.066 -0.258 0.087 -0.031 0.126 0.002 0.151 0.001 0.043 3.810 0.082 . . . 0.7930 0.3454 0.8820 0.8207 0.8349 0.8409 0.8024 0.8022 0.8156 0.6849 0.3579 0.8508 0.8245 0.8210 0.8486 0.8031 0.7878 het 1828.24 155 22 36661330 . G A 1828.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.509;DP=155;Dels=0.00;FS=2.192;HRun=1;HaplotypeScore=3.1137;MQ=59.45;MQ0=0;MQRankSum=-0.658;QD=11.80;ReadPosRankSum=0.353;VQSLOD=6.3192;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,72:155:99:1858,0,2385 22 36661536 36661536 C A exonic APOL1 synonymous SNV APOL1:NM_001136541:exon5:c.C600A:p.A200A,APOL1:NM_001136540:exon6:c.C654A:p.A218A,APOL1:NM_003661:exon6:c.C654A:p.A218A,APOL1:NM_145343:exon7:c.C702A:p.A234A 0.86 0.98 0.89 0.8 0.78 0.85 0.8360 0.9458 0.9152 0.8350 0.8471 0.8064 0.8124 0.8281 0.85 0.94 0.8 0.92 0.84 rs136174 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8370 0.9484 0.9075 0.8221 0.8360 0.8408 0.8038 0.8244 0.8294 0.8532 0.9469 0.8831 0.82 0.8239 0.8480 0.8044 0.8149 het 3116.51 211 22 36661536 . C A 3116.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.435;DP=211;DS;Dels=0.00;FS=0.555;HRun=0;HaplotypeScore=8.6492;MQ=58.84;MQ0=0;MQRankSum=0.739;QD=14.77;ReadPosRankSum=1.927;VQSLOD=4.1835;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,107:211:99:3147,0,2534 22 36661566 36661566 G A exonic APOL1 nonsynonymous SNV APOL1:NM_001136541:exon5:c.G630A:p.M210I,APOL1:NM_001136540:exon6:c.G684A:p.M228I,APOL1:NM_003661:exon6:c.G684A:p.M228I,APOL1:NM_145343:exon7:c.G732A:p.M244I 0.86 0.98 0.89 0.8 0.78 0.85 0.8364 0.9456 0.9151 0.8350 0.8471 0.8066 0.8126 0.8302 0.85 0.94 0.8 0.91 0.84 rs136175 COSM4156197 1(thyroid) . . . . . . . . . . . 0.15 0.251 T 0.001 0.067 B 0.0 0.013 B 0.053 0.229 N 1 0.090 P -0.345 0.033 N 4.1 0.030 T 1.99 0.004 N 0.031 0.130 -1.065 0.107 T 0.000 0.000 T . . . 0.212 0.114 4.803 0.664 0.078 0.029 0.076 N c -1.142 -1.148 0.097 0.163 0.707 0.730 0 -0.358 0.119 0.449 0.213 0.808 0.332 0.553 0.271 0.006 0.095 2.403 0.041 . . . 0.8373 0.9482 0.9076 0.8225 0.8360 0.8409 0.8042 0.8254 0.8299 0.8530 0.9468 0.8831 0.8245 0.8236 0.8479 0.8044 0.8122 het 2457.34 162 22 36661566 . G A 2457.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.223;DP=162;Dels=0.00;FS=3.281;HRun=0;HaplotypeScore=3.7994;MQ=59.14;MQ0=0;MQRankSum=-0.367;QD=15.17;ReadPosRankSum=-2.398;VQSLOD=4.7170;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:78,84:162:99:2487,0,2363 22 36661646 36661646 G A exonic APOL1 nonsynonymous SNV APOL1:NM_001136541:exon5:c.G710A:p.R237K,APOL1:NM_001136540:exon6:c.G764A:p.R255K,APOL1:NM_003661:exon6:c.G764A:p.R255K,APOL1:NM_145343:exon7:c.G812A:p.R271K 0.86 0.98 0.88 0.8 0.78 0.84 0.8349 0.9524 0.9154 0.8339 0.8476 0.8061 0.8108 0.8129 0.85 0.95 0.8 0.92 0.82 rs136176 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.006 N 1 0.090 P -1.67 0.004 N 4.07 0.031 T 1.29 0.010 N 0.018 0.039 -0.903 0.477 T 0.000 0.000 T . . . -2.494 0.003 0.001 0.506 0.043 0.001 0.009 N c -2.385 -2.407 1.000 0.747 0.707 0.730 0 -6.25 0.019 -7.050 0.001 -2.238 0.004 0.000 0.063 0.000 0.016 0.624 0.007 . . . 0.8345 0.9553 0.9062 0.8172 0.8349 0.8402 0.8022 0.8221 0.8129 0.8547 0.9525 0.8831 0.8245 0.8241 0.8489 0.8041 0.8126 het 1861.96 110 22 36661646 . G A 1861.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.283;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7480;MQ=59.66;MQ0=0;MQRankSum=-0.379;QD=16.93;ReadPosRankSum=0.890;VQSLOD=6.0778;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,61:110:99:1892,0,1389 22 36661842 36661842 G A exonic APOL1 synonymous SNV APOL1:NM_001136541:exon5:c.G906A:p.R302R,APOL1:NM_001136540:exon6:c.G960A:p.R320R,APOL1:NM_003661:exon6:c.G960A:p.R320R,APOL1:NM_145343:exon7:c.G1008A:p.R336R 0.85 0.95 0.88 0.8 0.78 0.83 0.8319 0.9241 0.9135 0.8346 0.8471 0.8059 0.8113 0.8153 0.84 0.92 0.8 0.91 0.82 rs136177 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8338 0.9263 0.9062 0.8220 0.8359 0.8409 0.8036 0.8235 0.8175 0.8474 0.9270 0.8828 0.8245 0.8224 0.8491 0.8041 0.8106 het 2043.59 162 22 36661842 . G A 2043.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.633;DP=162;Dels=0.00;FS=0.592;HRun=0;HaplotypeScore=1.4450;MQ=59.50;MQ0=0;MQRankSum=-0.540;QD=12.61;ReadPosRankSum=-1.070;VQSLOD=6.5256;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:85,77:162:99:2074,0,2518 22 36684354 36684354 T C exonic MYH9 nonsynonymous SNV MYH9:NM_002473:exon34:c.A4876G:p.I1626V 0.29 0.043 0.21 0.6 0.21 0.47 0.2584 0.0682 0.2943 0.6089 0.1825 0.2001 0.2610 0.4361 0.16 0.072 0.2 0.27 0.16 rs2269529 COSM5019313 12(soft_tissue) Benign|Benign|Benign|Benign MYH9_related_disorders|not_specified|MYH9-related_disorder|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000032225.1|RCV000037563.4|RCV000368736.1|RCV000402895.1 MedGen:Orphanet|MedGen|MedGen|MedGen CN073381:ORPHA182050|CN169374|CN239288|CN239435 . . . . . . 0.332 0.130 T 0.042 0.201 B 0.041 0.226 B 0.000 0.843 N 0.306 0.333 P 0.805 0.203 L -1.05 0.767 T -0.37 0.132 N 0.044 0.024 -0.911 0.467 T 0.000 0.000 T . . . 0.134 0.107 3.970 0.716 0.094 0.923 0.551 D c -0.275 -0.136 1.000 0.747 0.672 0.522 0 4.47 0.536 4.016 0.566 1.061 0.807 1.000 0.715 0.359 0.247 11.675 0.505 Myosin tail . . 0.2643 0.0703 0.2868 0.3527 0.6105 0.1761 0.1943 0.2420 0.4360 0.1759 0.0724 0.2440 0.3179 0.6067 0.1758 0.1814 0.2137 het 1835.48 198 22 36684354 . T C 1835.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.274;DP=198;Dels=0.00;FS=0.547;HRun=0;HaplotypeScore=5.4476;MQ=59.34;MQ0=0;MQRankSum=0.805;QD=9.27;ReadPosRankSum=0.653;VQSLOD=5.1753;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:117,80:198:99:1865,0,3114 22 36684358 36684358 C A exonic MYH9 synonymous SNV MYH9:NM_002473:exon34:c.G4872T:p.A1624A 0.29 0.042 0.21 0.6 0.21 0.47 0.2582 0.0673 0.2941 0.6080 0.1822 0.1999 0.2610 0.4361 0.16 0.071 0.2 0.27 0.16 rs2269530 COSM5019312 12(soft_tissue) Benign|Benign|Benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant|MYH9-related_disorder RCV000037562.3|RCV000310599.1|RCV000365226.1 MedGen|MedGen|MedGen CN169374|CN239435|CN239288 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2642 0.0696 0.2868 0.3527 0.6100 0.1762 0.1941 0.2417 0.4360 0.1754 0.0712 0.2440 0.3179 0.6068 0.1755 0.1813 0.2137 het 2031.10 194 22 36684358 . C A 2031.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.433;DP=194;Dels=0.00;FS=1.832;HRun=0;HaplotypeScore=4.2409;MQ=59.33;MQ0=0;MQRankSum=-1.132;QD=10.47;ReadPosRankSum=0.391;VQSLOD=5.4563;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:111,81:194:99:2061,0,2848 22 36691607 36691607 A C exonic MYH9 synonymous SNV MYH9:NM_002473:exon26:c.T3429G:p.A1143A 0.98 0.97 0.99 1. 0.97 0.99 0.9766 0.9712 0.9901 0.9998 0.9634 0.9712 0.9658 0.9859 0.97 0.97 0.97 0.98 0.99 rs710181 . . Benign|Benign|Benign not_specified|MYH9-related_disorder|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000037556.3|RCV000351776.1|RCV000404023.1 MedGen|MedGen|MedGen CN169374|CN239288|CN239435 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9763 0.9712 0.9866 0.9638 0.9997 0.9603 0.9721 0.9748 0.9857 0.9725 0.9718 0.9773 0.9404 0.9994 0.9673 0.9719 0.9693 hom 2197.57 72 22 36691607 . A C 2197.57 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.54;MQ0=0;QD=30.52;VQSLOD=9.0636;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2231,178,0 22 36900271 36900271 T C exonic FOXRED2 nonsynonymous SNV FOXRED2:NM_001102371:exon4:c.A923G:p.N308S,FOXRED2:NM_024955:exon4:c.A923G:p.N308S 0.65 0.91 0.81 0.21 0.78 0.5 0.7290 0.8930 0.7556 0.2481 0.7266 0.8057 0.7203 0.5501 0.83 0.89 0.8 0.75 0.83 rs2277841 COSM4156203 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . 0.776 0.033 T 0.0 0.026 B 0.001 0.040 B 0.716 0.063 N 1 0.090 P 0.835 0.211 L 2.5 0.144 T -0.59 0.176 N 0.001 0.000 -1.033 0.195 T 0.000 0.000 T . . . -3.530 0.000 0.001 0.213 0.008 0.094 0.150 N c -1.817 -1.921 1.000 0.747 0.706 0.609 0 -6.48 0.017 -0.207 0.093 -0.656 0.041 0.000 0.063 0.013 0.120 6.693 0.222 . ENSG00000100350.10 Esophagus_Muscularis 0.7266 0.8953 0.7634 0.7901 0.2474 0.7254 0.8083 0.7512 0.5509 0.7979 0.8984 0.7852 0.7881 0.2484 0.7361 0.8158 0.7637 hom 4340.44 138 22 36900271 . T C 4340.44 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3867;MQ=59.83;MQ0=0;QD=31.45;VQSLOD=8.3348;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,138:138:99:4340,331,0 22 36900806 36900806 A G exonic FOXRED2 nonsynonymous SNV FOXRED2:NM_001102371:exon3:c.T535C:p.F179L,FOXRED2:NM_024955:exon3:c.T535C:p.F179L 0.45 0.44 0.71 0.21 0.67 0.32 0.5950 0.4659 0.6956 0.2476 0.6260 0.6981 0.5767 0.3593 0.62 0.47 0.7 0.47 0.71 rs760718 COSM4416285 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.924 0.023 T 0.0 0.026 B 0.001 0.040 B 0.000 0.504 N 1 0.090 P -0.53 0.025 N 2.42 0.154 T 2.38 0.003 N 0.074 0.084 -1.005 0.284 T 0.000 0.000 T . . . -1.111 0.028 0.009 0.285 0.015 0.066 0.124 N c -1.152 -1.062 1.000 0.423 0.706 0.609 0 1.94 0.249 0.749 0.258 0.138 0.222 0.465 0.265 0.412 0.256 9.799 0.397 FAD/NAD(P)-binding domain ENSG00000100348.5 Breast_Mammary_Tissue 0.5994 0.4595 0.6973 0.5664 0.2464 0.6253 0.7062 0.6287 0.3608 0.6095 0.4602 0.7122 0.59 0.2454 0.6392 0.7203 0.6588 hom 1781.99 57 22 36900806 . A G 1781.99 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=31.26;VQSLOD=9.5674;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1815,141,0 22 36912630 36912630 A G exonic EIF3D synonymous SNV EIF3D:NM_003753:exon12:c.T1101C:p.D367D 0.073 0.13 0.058 0.002 0.065 0.091 0.0704 0.1361 0.0307 0.0002 0.0851 0.0714 0.0815 0.0831 0.095 0.13 0.078 0.076 0.049 rs11558519 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0684 0.1372 0.0364 0.0715 0.0003 0.0854 0.0715 0.0680 0.0833 0.0953 0.1371 0.0453 0.0728 0.0012 0.0747 0.0889 0.0998 het 3134.20 246 22 36912630 . A G 3134.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.815;DP=246;DS;Dels=0.00;FS=0.493;HRun=0;HaplotypeScore=2.7269;MQ=59.57;MQ0=0;MQRankSum=0.295;QD=12.74;ReadPosRankSum=-2.359;VQSLOD=5.3878;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:130,115:246:99:3164,0,3668 22 36922052 36922052 T C exonic EIF3D synonymous SNV EIF3D:NM_003753:exon2:c.A117G:p.L39L 0.075 0.14 0.056 0.002 0.06 0.09 0.0686 0.1427 0.0305 0.0002 0.0727 0.0683 0.0784 0.0839 0.095 0.13 0.074 0.076 0.041 rs9622410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0651 0.1432 0.0342 0.0702 0.0003 0.0719 0.0676 0.0645 0.0805 0.0947 0.1472 0.0430 0.0728 0.0012 0.0613 0.0854 0.0937 het 1785.63 162 22 36922052 . T C 1785.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.908;DP=162;Dels=0.00;FS=1.259;HRun=2;HaplotypeScore=11.0302;MQ=58.88;MQ0=0;MQRankSum=0.635;QD=11.02;ReadPosRankSum=-1.812;VQSLOD=3.5707;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,68:162:99:1816,0,2395 22 37271802 37271802 C T exonic NCF4 synonymous SNV NCF4:NM_000631:exon8:c.C735T:p.Y245Y,NCF4:NM_013416:exon8:c.C735T:p.Y245Y 0.13 0.25 0.14 0.065 0.066 0.097 0.0933 0.2206 0.1761 0.0507 0.0590 0.0661 0.0695 0.1025 0.12 0.21 0.069 0.054 0.066 rs2072712 . . Benign|Likely benign not_specified|Chronic_granulomatous_disease RCV000250195.1|RCV000316507.1 MedGen|MedGen:Orphanet CN169374|C0018203:ORPHA379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0952 0.2221 0.1742 0.0871 0.0530 0.0582 0.0660 0.0868 0.1063 0.1094 0.2228 0.1671 0.0795 0.0525 0.0564 0.0611 0.0867 het 2839.37 209 22 37271802 . C T 2839.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.180;DP=209;Dels=0.00;FS=1.089;HRun=0;HaplotypeScore=5.0652;MQ=58.84;MQ0=0;MQRankSum=0.676;QD=13.59;ReadPosRankSum=-0.796;VQSLOD=5.5741;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,112:209:99:2869,0,2404 22 37271882 37271882 T C exonic NCF4 nonsynonymous SNV NCF4:NM_013416:exon8:c.T815C:p.L272P 0.83 0.97 0.84 0.68 0.84 0.78 0.8337 0.9469 0.8606 0.6688 0.8373 0.8362 0.8289 0.8185 0.87 0.94 0.84 0.85 0.81 rs2075939 COSM4156206 1(thyroid) Benign|Benign not_specified|Chronic_granulomatous_disease RCV000253146.1|RCV000375140.1 MedGen|MedGen:Orphanet CN169374|C0018203:ORPHA379 . . . . . . 0.001 0.784 D 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1.000 0.090 P . . . 0.24 0.596 T -0.42 0.142 N 0.033 0.227 -0.957 0.398 T 0.000 0.000 T . . . 1.559 0.249 13.63 0.958 0.273 0.000 0.001 N c -1.255 -1.332 0.459 0.206 0.563 0.310 0 -0.74 0.105 0.298 0.187 -1.008 0.022 0.000 0.063 0.000 0.016 7.415 0.260 PB1 domain . . 0.8315 0.9489 0.8585 0.8569 0.6634 0.8380 0.8332 0.8319 0.8188 0.8614 0.9462 0.8807 0.8444 0.6481 0.8305 0.8412 0.8681 hom 5283.29 170 22 37271882 . T C 5283.29 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6266;MQ=59.46;MQ0=0;QD=31.08;VQSLOD=8.1196;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:5282,454,0 22 37273742 37273742 G A exonic NCF4 synonymous SNV NCF4:NM_000631:exon10:c.G897A:p.S299S 0.13 0.27 0.14 0.065 0.066 0.097 0.0941 0.2278 0.1766 0.0516 0.0592 0.0662 0.0695 0.1026 0.12 0.22 0.069 0.054 0.057 rs11552115 . . Benign|Benign not_specified|Chronic_granulomatous_disease RCV000253806.1|RCV000385480.1 MedGen|MedGen:Orphanet CN169374|C0018203:ORPHA379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0957 0.2289 0.1745 0.0873 0.0531 0.0584 0.0660 0.0873 0.1065 0.1107 0.2283 0.1683 0.08 0.0519 0.0564 0.0606 0.0871 het 1260.62 94 22 37273742 . G A 1260.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.032;DP=94;Dels=0.00;FS=6.881;HRun=0;HaplotypeScore=0.9983;MQ=59.56;MQ0=0;MQRankSum=0.718;QD=13.41;ReadPosRankSum=-0.964;VQSLOD=5.2344;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,46:94:99:1291,0,1291 22 37453452 37453452 C T exonic KCTD17 synonymous SNV KCTD17:NM_001282684:exon4:c.C426T:p.H142H,KCTD17:NM_001282685:exon4:c.C426T:p.H142H,KCTD17:NM_001282686:exon4:c.C426T:p.H142H,KCTD17:NM_024681:exon4:c.C426T:p.H142H 0.84 0.63 0.93 0.99 0.87 0.86 0.8661 0.6690 0.9462 0.9979 0.8450 0.8666 0.8858 0.8702 0.8 0.68 0.87 0.83 . rs710185 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8724 0.6632 0.9397 0.8859 0.9977 0.8416 0.8658 0.8870 0.8720 0.8128 0.6634 0.9224 0.8633 1 0.8434 0.8623 0.8569 het 991.93 49 22 37453452 . C T 991.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.351;DP=49;Dels=0.00;FS=1.219;HRun=0;HaplotypeScore=3.9789;MQ=59.02;MQ0=0;MQRankSum=2.095;QD=20.24;ReadPosRankSum=2.593;VQSLOD=2.8935;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,36:49:99:1022,0,292 22 37462926 37462926 G A exonic TMPRSS6 synonymous SNV TMPRSS6:NM_001289001:exon17:c.C2190T:p.Y730Y,TMPRSS6:NM_153609:exon17:c.C2217T:p.Y739Y,TMPRSS6:NM_001289000:exon18:c.C2256T:p.Y752Y 0.36 0.41 0.21 0.41 0.42 0.26 0.3654 0.4230 0.2164 0.4442 0.4859 0.3804 0.3978 0.2827 0.39 0.42 0.37 0.34 0.41 rs2235321 COSM4156210;COSM149288 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid) Benign|Benign not_specified|Microcytic_anemia RCV000251500.1|RCV000325226.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085576:206200:ORPHA209981:234349007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3608 0.4264 0.2246 0.3518 0.4447 0.482 0.3783 0.3475 0.2839 0.4020 0.4232 0.2488 0.38 0.4639 0.4920 0.3732 0.3663 het 954.95 72 22 37462926 . G A 954.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.935;DP=72;Dels=0.00;FS=0.896;HRun=0;HaplotypeScore=1.9983;MQ=60.00;MQ0=0;MQRankSum=-2.295;QD=13.26;ReadPosRankSum=-1.698;VQSLOD=4.6416;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,38:72:99:985,0,1058 22 37462936 37462936 A G exonic TMPRSS6 nonsynonymous SNV TMPRSS6:NM_001289001:exon17:c.T2180C:p.V727A,TMPRSS6:NM_153609:exon17:c.T2207C:p.V736A,TMPRSS6:NM_001289000:exon18:c.T2246C:p.V749A 0.6 0.9 0.49 0.43 0.61 0.46 0.5730 0.8532 0.5367 0.4498 0.6525 0.5666 0.5820 0.4799 0.66 0.84 0.56 0.67 0.66 rs855791 COSM3927773;COSM149289 1(breast);1(stomach);2(haematopoietic_and_lymphoid_tissue);1(pancreas);2(prostate);2(large_intestine) Benign|Benign not_specified|Microcytic_anemia RCV000246767.1|RCV000384447.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085576:206200:ORPHA209981:234349007 . . . . . . 0.998 0.024 T 0.0 0.026 B 0.0 0.013 B 0.000 0.447 N 1.000 0.218 P -1.02 0.011 N -2.27 0.874 D 0.26 0.045 N 0.062 0.047 -0.945 0.419 T 0.000 0.000 T . . . 1.518 0.245 13.41 0.967 0.303 0.096 0.151 N c -0.509 -0.274 0.963 0.286 0.677 0.550 0 4.72 0.591 4.839 0.623 0.104 0.200 1.000 0.715 0.994 0.587 9.466 0.378 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.5662 0.8605 0.5237 0.5455 0.4513 0.6589 0.5643 0.5600 0.4787 0.6514 0.8551 0.5167 0.5667 0.4602 0.6644 0.5638 0.5820 het 1101.63 76 22 37462936 . A G 1101.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.290;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8650;MQ=60.00;MQ0=0;MQRankSum=-0.197;QD=14.50;ReadPosRankSum=0.270;VQSLOD=6.1311;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,39:76:99:1132,0,1009 22 37469591 37469591 G A exonic TMPRSS6 synonymous SNV TMPRSS6:NM_001289000:exon13:c.C1536T:p.D512D,TMPRSS6:NM_001289001:exon13:c.C1536T:p.D512D,TMPRSS6:NM_153609:exon13:c.C1563T:p.D521D 0.54 0.72 0.47 0.44 0.58 0.43 0.5390 0.7317 0.5224 0.4760 0.5616 0.5391 0.5264 0.4533 0.6 0.73 0.54 0.52 0.58 rs4820268 COSM4417124;COSM149290 1(haematopoietic_and_lymphoid_tissue);1(stomach) Benign|Benign not_specified|Microcytic_anemia RCV000247076.1|RCV000356489.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085576:206200:ORPHA209981:234349007 Hematology traits . .15 19853236 rs4820268 3E-10 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5347 0.7365 0.5090 0.5390 0.4747 0.5709 0.5393 0.5275 0.4533 0.5938 0.7283 0.4797 0.5331 0.4944 0.5840 0.5387 0.5564 het 4596.66 250 22 37469591 . G A 4596.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.512;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6809;MQ=59.57;MQ0=0;MQRankSum=3.037;QD=18.39;ReadPosRankSum=1.475;VQSLOD=2.7788;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:106,144:250:99:3969,0,2444 22 37485724 37485724 T C exonic TMPRSS6 nonsynonymous SNV TMPRSS6:NM_001289000:exon7:c.A730G:p.K244E,TMPRSS6:NM_001289001:exon7:c.A730G:p.K244E,TMPRSS6:NM_153609:exon7:c.A757G:p.K253E 0.39 0.4 0.33 0.4 0.43 0.37 0.3979 0.4440 0.3219 0.4124 0.4551 0.3971 0.4141 0.3979 0.4 0.42 0.38 0.29 0.34 rs2235324 COSM3766709;COSM3766707;COSM3766708 1(liver);3(thyroid) Benign|Benign not_specified|Microcytic_anemia RCV000249628.1|RCV000349649.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0085576:206200:ORPHA209981:234349007 . . . . . . 1.0 0.010 T 0.001 0.067 B 0.001 0.040 B 0.263 0.037 N 1 0.090 P -0.41 0.029 N 0.37 0.577 T 0.14 0.054 N 0.024 0.008 -1.026 0.218 T 0.000 0.000 T . . . -2.176 0.006 0.001 0.213 0.008 0.015 0.049 N c -1.974 -1.986 0.984 0.306 0.497 0.185 0 -9.17 0.006 -1.744 0.019 -1.612 0.009 0.000 0.063 0.012 0.117 9.198 0.362 CUB domain . . 0.3816 0.4252 0.3208 0.3326 0.4035 0.4269 0.3856 0.3804 0.3844 0.3993 0.4370 0.3505 0.3433 0.3857 0.4321 0.3766 0.3755 het 224.71 22 22 37485724 . T C 224.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.154;DP=22;Dels=0.00;FS=1.848;HRun=0;HaplotypeScore=0.5784;MQ=58.95;MQ0=0;MQRankSum=0.626;QD=10.21;ReadPosRankSum=0.692;VQSLOD=6.5346;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,10:22:99:255,0,332 22 37524619 37524619 G T exonic IL2RB nonsynonymous SNV IL2RB:NM_000878:exon10:c.C1173A:p.D391E,IL2RB:NM_001346222:exon10:c.C1173A:p.D391E,IL2RB:NM_001346223:exon10:c.C1173A:p.D391E 0.18 0.076 0.31 0.23 0.18 0.17 0.1852 0.0891 0.2942 0.2706 0.1854 0.1792 0.1567 0.1504 0.15 0.092 0.18 0.15 0.15 rs228942 COSM3759167 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.094 0.025 N 1.000 0.182 P -2.08 0.002 N 3.25 0.068 T -0.13 0.090 N 0.014 0.002 -0.958 0.396 T 0.000 0.000 T . . . -0.956 0.034 0.020 0.197 0.007 0.035 0.086 N c -1.539 -1.456 0.994 0.335 0.632 0.406 0 2.16 0.265 -2.493 0.010 -0.330 0.074 0.001 0.137 0.001 0.043 7.452 0.263 . ENSG00000100385.9 Skin_Sun_Exposed_Lower_leg 0.1918 0.0912 0.2936 0.1934 0.2644 0.1844 0.1768 0.1763 0.1523 0.1656 0.0932 0.2691 0.1722 0.2543 0.1959 0.1833 0.1947 het 1186.20 69 22 37524619 . G T 1186.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.365;DP=69;Dels=0.00;FS=2.202;HRun=1;HaplotypeScore=2.6274;MQ=59.19;MQ0=0;MQRankSum=1.267;QD=17.19;ReadPosRankSum=-0.071;VQSLOD=6.0482;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,41:69:99:1216,0,641 22 37531436 37531436 G A exonic IL2RB synonymous SNV IL2RB:NM_000878:exon8:c.C750T:p.G250G,IL2RB:NM_001346222:exon8:c.C750T:p.G250G,IL2RB:NM_001346223:exon8:c.C750T:p.G250G 0.41 0.41 0.43 0.39 0.42 0.4 0.4202 0.4083 0.3910 0.4273 0.5130 0.4305 0.4139 0.3657 0.42 0.41 0.43 0.4 0.53 rs228953 COSM3759168 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4240 0.4083 0.4025 0.3844 0.4253 0.5249 0.4316 0.4080 0.3695 0.4388 0.4125 0.3986 0.3675 0.4339 0.5164 0.4395 0.45 het 1201.95 105 22 37531436 . G A 1201.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.348;DP=105;Dels=0.00;FS=6.891;HRun=0;HaplotypeScore=3.4380;MQ=59.34;MQ0=0;MQRankSum=-1.007;QD=11.45;ReadPosRankSum=1.522;VQSLOD=4.3545;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,55:105:99:1232,0,1222 22 37581271 37581271 G A exonic C1QTNF6 synonymous SNV C1QTNF6:NM_031910:exon2:c.C276T:p.I92I,C1QTNF6:NM_182486:exon2:c.C276T:p.I92I 0.0014 . 0.0029 . 0.005 . 0.0026 0.0007 0.0021 0 0 0.0038 0.0025 0.0009 0.0029 0.0005 0.0042 . . rs77643619 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0004 0.0032 0.0088 0 9.926e-05 0.0033 0.0048 0.0005 0.0018 0.0006 0.0024 0.0066 0 0.0003 0.0030 0.0020 het 897.82 75 22 37581271 . G A 897.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.395;DP=75;Dels=0.00;FS=0.869;HRun=1;HaplotypeScore=0.8941;MQ=58.12;MQ0=0;MQRankSum=0.611;QD=11.97;ReadPosRankSum=1.099;VQSLOD=4.7187;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,35:75:99:928,0,1171 22 37581422 37581422 G C exonic C1QTNF6 nonsynonymous SNV C1QTNF6:NM_031910:exon2:c.C125G:p.P42R,C1QTNF6:NM_182486:exon2:c.C125G:p.P42R 0.19 0.28 0.14 0.11 0.21 0.17 0.1999 0.2769 0.0902 0.0976 0.1757 0.2201 0.2014 0.2101 0.24 0.27 0.22 0.18 0.25 rs229526 . . . . . . . . . . . . . 0.135 0.377 T 0.919 0.489 P 0.483 0.453 P 0.001 0.409 D 0.413 0.324 P 1.545 0.392 L 1.08 0.394 T -2.63 0.939 D 0.237 0.358 -1.056 0.129 T 0.000 0.000 T . . . 1.747 0.271 14.68 0.992 0.550 0.959 0.663 D c 0.101 0.016 1.000 0.747 0.615 0.372 0 4.49 0.540 4.871 0.625 0.902 0.416 1.000 0.715 0.579 0.285 15.369 0.741 . ENSG00000133466.9|ENSG00000133466.9|ENSG00000133466.9|ENSG00000235237.1|ENSG00000133466.9|ENSG00000133466.9|ENSG00000235237.1|ENSG00000133466.9|ENSG00000235237.1|ENSG00000235237.1|ENSG00000133466.9|ENSG00000235237.1|ENSG00000133466.9|ENSG00000235237.1 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Cells_EBV-transformed_lymphocytes|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1920 0.2789 0.0976 0.1991 0.1017 0.1748 0.2214 0.1789 0.2080 0.2141 0.2738 0.1146 0.1788 0.0996 0.1732 0.2085 0.1973 hom 1165.66 37 22 37581422 . G C 1165.66 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.50;VQSLOD=14.2371;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1199,99,0 22 37581485 37581485 C A exonic C1QTNF6 nonsynonymous SNV C1QTNF6:NM_031910:exon2:c.G62T:p.G21V,C1QTNF6:NM_182486:exon2:c.G62T:p.G21V 0.45 0.35 0.39 0.65 0.42 0.45 0.4395 0.3548 0.3703 0.6682 0.3878 0.4322 0.4717 0.4695 0.4 0.34 0.42 0.4 0.48 rs229527 . . . . . . . Vitiligo 1.38 . 20410501 rs229527 2E-16 0.166 0.244 T 0.017 0.163 B 0.007 0.121 B 0.423 0.128 N 0.012 0.407 P 1.65 0.424 L 1.22 0.370 T -1.14 0.642 N 0.032 0.043 -0.971 0.370 T 0.000 0.000 T . . . 5.448 0.739 26.1 0.986 0.432 0.330 0.245 N c -0.420 -0.312 1.000 0.473 0.707 0.730 0 1.04 0.191 0.792 0.264 0.807 0.329 0.999 0.424 0.973 0.468 0.452 0.005 . ENSG00000133466.9 Testis 0.4317 0.3400 0.3692 0.4932 0.6630 0.3894 0.4246 0.4261 0.4525 0.4026 0.3504 0.3762 0.4404 0.6429 0.3890 0.4109 0.4014 hom 766.41 29 22 37581485 . C A 766.41 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.43;VQSLOD=13.2064;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:63.18:799,63,0 22 37770066 37770066 G T exonic ELFN2 synonymous SNV ELFN2:NM_052906:exon3:c.C1509A:p.I503I 0.4 0.49 0.54 0.35 0.36 0.26 0.3915 0.5158 0.5669 0.3448 0.3884 0.3734 0.4044 0.2891 0.42 0.51 0.37 0.41 0.38 rs8142615 COSM1416128 1(liver);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3942 0.5159 0.5604 0.2677 0.3516 0.3883 0.3748 0.3853 0.2931 0.4160 0.5162 0.5263 0.27 0.3540 0.3910 0.3684 0.3961 hom 2947.22 89 22 37770066 . G T 2947.22 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=33.11;VQSLOD=9.1619;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2980,244,0 22 37770357 37770357 A G exonic ELFN2 synonymous SNV ELFN2:NM_052906:exon3:c.T1218C:p.F406F 0.45 0.61 0.62 0.35 0.37 0.27 0.4221 0.6217 0.7114 0.3490 0.4003 0.3822 0.4238 0.3014 0.46 0.62 0.38 0.46 0.39 rs7292751 COSM3759171 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4272 0.6261 0.6914 0.2742 0.3572 0.3986 0.3846 0.4114 0.3060 0.4528 0.6207 0.6313 0.2715 0.3555 0.4018 0.3741 0.4088 hom 4886.06 148 22 37770357 . A G 4886.06 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8814;MQ=58.68;MQ0=0;QD=33.01;VQSLOD=8.5873;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4885,397,0 22 37771158 37771158 G A exonic ELFN2 synonymous SNV ELFN2:NM_052906:exon3:c.C417T:p.I139I 0.42 0.43 0.66 0.35 0.43 0.29 0.4424 0.4701 0.7298 0.3525 0.4136 0.4325 0.4591 0.3214 0.45 0.47 0.43 0.45 0.42 rs2071857 COSM3759172 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4503 0.4711 0.7095 0.3546 0.3584 0.4129 0.4337 0.4487 0.3268 0.4378 0.4706 0.6554 0.3543 0.3577 0.4212 0.4212 0.4334 hom 4103.18 124 22 37771158 . G A 4103.18 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3454;MQ=59.81;MQ0=0;QD=33.09;VQSLOD=9.0595;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:124:99:4103,328,0 22 37964299 37964299 C G exonic CDC42EP1 synonymous SNV CDC42EP1:NM_152243:exon3:c.C648G:p.L216L 0.46 0.32 0.63 0.32 0.56 0.57 0.5322 0.3408 0.5907 0.2740 0.6489 0.5685 0.5632 0.5492 0.49 0.34 0.57 0.3 0.48 rs2281098 COSM1751860 2(urinary_tract);2(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5386 0.3392 0.5842 0.3877 0.2716 0.6576 0.5816 0.5328 0.5466 0.5095 0.3519 0.5957 0.4073 0.2615 0.6496 0.5883 0.5716 het 969.83 91 22 37964299 . C G 969.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.059;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2019;MQ=58.82;MQ0=0;MQRankSum=1.792;QD=10.66;ReadPosRankSum=0.693;VQSLOD=5.4130;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,39:91:99:1000,0,1442 22 38051999 38051999 C T exonic SH3BP1 nonsynonymous SNV SH3BP1:NM_001350055:exon18:c.C1760T:p.A587V 0.44 0.46 0.44 0.48 0.4 0.44 0.4398 0.4811 0.4282 0.5109 0.3697 0.4296 0.4439 0.4590 0.44 0.47 0.43 0.43 . rs12483880 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4374 0.4681 0.4198 0.5520 0.5117 0.3713 0.4202 0.4444 0.4513 0.4396 0.4805 0.4403 0.5133 0.5031 0.3812 0.4227 0.4134 het 305.31 31 22 38051999 . C T 305.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.170;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.79;MQ0=0;MQRankSum=0.534;QD=9.85;ReadPosRankSum=0.217;VQSLOD=6.3334;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:335,0,365 22 38119213 38119213 G A exonic TRIOBP nonsynonymous SNV TRIOBP:NM_001039141:exon7:c.G650A:p.S217N 0.53 0.38 0.61 0.71 0.57 0.44 0.5697 0.3991 0.6026 0.6977 0.5736 0.5885 0.6136 0.4981 0.54 0.41 0.61 0.51 0.36 rs12628603 COSM3723980 1(skin);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.384 0.327 B 0.111 0.300 B . . . 1.000 0.090 P 1.79 0.469 L 1.71 0.267 T -1.0 0.264 N 0.074 0.064 -0.982 0.347 T 0.000 0.000 T . . . 3.661 0.497 23.2 0.993 0.575 0.775 0.378 D c -0.156 -0.082 0.484 0.208 0.635 0.413 0 3.16 0.353 3.147 0.501 0.952 0.539 0.950 0.328 0.020 0.134 6.973 0.237 . ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000128346.6|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100116.12|ENSG00000100106.15|ENSG00000128310.2|ENSG00000100106.15|ENSG00000100106.15|ENSG00000189060.4|ENSG00000100106.15 Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.5725 0.3875 0.6116 0.4884 0.6992 0.5677 0.5953 0.5647 0.4999 0.5465 0.3925 0.5933 0.4868 0.7125 0.5749 0.6092 0.5564 het 396.68 40 22 38119213 . G A 396.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.078;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7329;MQ=60.00;MQ0=0;MQRankSum=-0.621;QD=9.92;ReadPosRankSum=0.097;VQSLOD=5.8542;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,16:40:99:427,0,671 22 38119755 38119757 CAA - exonic TRIOBP nonframeshift deletion TRIOBP:NM_001039141:exon7:c.1192_1194del:p.Q398del 0.34 0.15 0.29 0.59 0.39 0.31 0.3917 0.1805 0.3458 0.5987 0.3561 0.4187 0.3875 0.3471 0.35 0.18 0.43 0.011 . rs71322688 COSM5713391 1(large_intestine);2(central_nervous_system) Benign not_specified RCV000179804.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3933 0.1791 0.3553 0.3361 0.6001 0.3550 0.4281 0.3754 0.3482 0.3729 0.1931 0.3345 0.3435 0.6199 0.3678 0.4543 0.3685 het 2783.19 124 22 38119754 . TCAA T 2783.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.233;DP=124;FS=3.367;HRun=0;HaplotypeScore=482.8072;MQ=55.31;MQ0=0;MQRankSum=-0.949;QD=21.58;ReadPosRankSum=4.245;set=variant2 GT:AD:DP:GQ:PL 0/1:65,64:124:99:2822,0,3609 22 38120176 38120178 CCT - exonic TRIOBP nonframeshift deletion TRIOBP:NM_001039141:exon7:c.1613_1615del:p.S540del 0.25 0.14 0.23 0.37 0.29 0.26 0.3074 0.1534 0.2851 0.4156 0.2918 0.3273 0.3072 0.2824 0.28 0.16 0.34 . . rs36219868 COSM111672 1(ovary);19(upper_aerodigestive_tract);1(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0862 0.0464 0.0615 0.0337 0.2244 0.1331 0.0971 0.0797 0.0392 0.1044 0.0417 0.1216 0.0633 0.2821 0.1407 0.1262 0.0861 het 1141.43 213 22 38120175 . GCCT G 1141.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.986;DP=213;DS;FS=5.496;HRun=0;HaplotypeScore=802.8138;MQ=44.12;MQ0=12;MQRankSum=1.674;QD=4.57;ReadPosRankSum=0.324;set=variant2 GT:AD:DP:GQ:PL 0/1:202,48:213:99:1180,0,10358 22 38121152 38121152 C A exonic TRIOBP nonsynonymous SNV TRIOBP:NM_001039141:exon7:c.C2589A:p.N863K 0.34 0.15 0.29 0.59 0.39 0.31 0.3925 0.1803 0.3476 0.6011 0.3564 0.4193 0.3889 0.3474 0.35 0.18 0.43 0.34 0.34 rs9610841 COSM4002174 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.003 0.682 D 0.421 0.336 B 0.058 0.250 B . . . 1 0.090 P 1.965 0.534 M 2.05 0.207 T -1.83 0.429 N 0.04 0.020 -0.951 0.408 T 0.000 0.000 T . . . 3.284 0.454 22.8 0.991 0.529 0.074 0.133 N c -0.561 -0.640 0.551 0.213 0.672 0.522 0 1.51 0.220 -0.318 0.080 0.886 0.389 0.000 0.063 0.404 0.255 4.962 0.133 . ENSG00000189060.4 Whole_Blood 0.3937 0.1788 0.3561 0.3362 0.6006 0.3551 0.4286 0.3763 0.3487 0.3728 0.1908 0.3353 0.3377 0.6200 0.3731 0.4552 0.3673 het 2608.56 233 22 38121152 . C A 2608.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.859;DP=233;Dels=0.00;FS=1.095;HRun=2;HaplotypeScore=6.4166;MQ=59.23;MQ0=0;MQRankSum=-1.169;QD=11.20;ReadPosRankSum=-0.122;VQSLOD=4.5167;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,100:233:99:2639,0,3668 22 38122122 38122122 T C exonic TRIOBP nonsynonymous SNV TRIOBP:NM_001039141:exon7:c.T3559C:p.F1187L 0.34 0.15 0.29 0.59 0.39 0.31 0.3934 0.1818 0.3483 0.6032 0.3568 0.4201 0.3859 0.3479 0.35 0.18 0.43 0.33 0.34 rs5756795 COSM3759180 2(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.006 0.126 B 0.006 0.112 B . . . 0.998 0.224 P 0.55 0.145 N 2.26 0.176 T -2.02 0.465 N 0.101 0.104 -0.970 0.372 T 0.000 0.000 T . . . 1.679 0.263 14.29 0.977 0.347 0.457 0.273 N c -0.408 -0.232 0.033 0.141 0.635 0.413 0 2.89 0.326 0.790 0.264 1.055 0.756 0.031 0.203 1.000 0.888 4.678 0.120 . ENSG00000189060.4 Whole_Blood 0.3929 0.1792 0.3556 0.3345 0.6006 0.3543 0.4275 0.3755 0.3477 0.3714 0.1897 0.3341 0.3377 0.6247 0.3728 0.4539 0.3648 het 1507.10 130 22 38122122 . T C 1507.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.068;DP=130;Dels=0.00;FS=3.147;HRun=1;HaplotypeScore=4.1086;MQ=59.47;MQ0=0;MQRankSum=0.574;QD=11.59;ReadPosRankSum=-0.162;VQSLOD=5.1193;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:72,58:130:99:1537,0,2045 22 38122448 38122448 C T exonic TRIOBP synonymous SNV TRIOBP:NM_001039141:exon7:c.C3885T:p.S1295S 0.34 0.15 0.29 0.59 0.39 0.31 0.4421 0.2528 0.4101 0.6229 0.4295 0.4603 0.4331 0.3824 0.34 0.18 0.42 0.25 0.098 rs739137 COSM3749765 1(thyroid);10(large_intestine) Benign not_specified RCV000270958.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3975 0.1854 0.3563 0.3318 0.6010 0.3652 0.4341 0.3748 0.3485 0.3732 0.1909 0.3353 0.3377 0.6233 0.3731 0.4556 0.3671 het 311.05 16 22 38122448 . C T 311.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.395;QD=19.44;ReadPosRankSum=-0.546;VQSLOD=11.5348;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:4,12:16:89.12:341,0,89 22 38122462 38122462 A G exonic TRIOBP nonsynonymous SNV TRIOBP:NM_001039141:exon7:c.A3899G:p.H1300R 0.6 0.19 0.58 0.89 0.72 0.75 0.7412 0.3468 0.7066 0.9232 0.7488 0.7512 0.7295 0.7685 0.63 0.35 0.76 0.35 0.16 rs739138 COSM3749766 4(large_intestine) Benign not_specified RCV000328335.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.182 P -1.04 0.011 N 2.81 0.110 T 1.29 0.010 N 0.027 0.009 -1.000 0.298 T 0.000 0.000 T . . . -0.886 0.036 0.028 0.757 0.108 0.054 0.111 N c -0.886 -0.630 0.348 0.197 0.635 0.413 0 3.9 0.441 1.808 0.383 0.134 0.217 1.000 0.715 0.990 0.544 4.383 0.107 . ENSG00000100151.11 Whole_Blood 0.7036 0.2468 0.6639 0.6823 0.9112 0.7125 0.7279 0.7037 0.7495 0.6166 0.2579 0.6495 0.6954 0.9210 0.7205 0.7587 0.7080 hom 441.53 14 22 38122462 . A G 441.53 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.54;VQSLOD=13.6352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.10:475,39,0 22 38130459 38130459 G T exonic TRIOBP nonsynonymous SNV TRIOBP:NM_001039141:exon9:c.G4116T:p.E1372D 0.26 0.04 0.3 0.3 0.32 0.44 0.3080 0.0735 0.3334 0.3117 0.3376 0.3087 0.2892 0.4087 0.23 0.076 0.3 0.23 0.34 rs8140207 COSM3759181 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000036821.3 MedGen CN169374 . . . . . . 0.176 0.223 T 0.051 0.210 B 0.02 0.179 B . . . 1 0.090 P 1.445 0.365 L 1.61 0.284 T -1.09 0.283 N 0.04 0.020 -0.917 0.460 T 0.000 0.000 T . . . 1.643 0.259 14.09 0.991 0.518 0.067 0.126 N c -0.951 -0.950 1.000 0.410 0.635 0.413 0 0.937 0.185 0.150 0.160 0.091 0.195 0.004 0.165 0.075 0.178 3.171 0.061 . ENSG00000100106.15|ENSG00000100116.12|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100116.12|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100116.12|ENSG00000100106.15|ENSG00000100116.12|ENSG00000100106.15|ENSG00000128310.2|ENSG00000100106.15|ENSG00000100106.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Thyroid|Whole_Blood 0.3090 0.0676 0.3187 0.3530 0.3108 0.3400 0.3014 0.3269 0.4045 0.2410 0.0675 0.3150 0.3642 0.2984 0.3302 0.3027 0.3323 het 250.43 40 22 38130459 . G T 250.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.494;DP=40;Dels=0.00;FS=1.326;HRun=0;HaplotypeScore=0.9979;MQ=58.43;MQ0=0;MQRankSum=-1.068;QD=6.26;ReadPosRankSum=-0.982;VQSLOD=3.7005;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,13:40:99:280,0,682 22 38130472 38130472 T C exonic TRIOBP nonsynonymous SNV TRIOBP:NM_001039141:exon9:c.T4129C:p.W1377R 0.98 1. 0.97 1. 0.94 1. 0.9653 0.9902 0.9817 1 0.9713 0.9462 0.9727 0.9945 0.96 0.99 0.95 0.99 0.98 rs8140958 . . Benign not_specified RCV000036822.3 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.445 0.006 N 2.29 0.171 T 2.96 0.001 N 0.044 0.024 -1.005 0.283 T 0.000 0.000 T . . . -2.576 0.003 0.001 0.416 0.030 0.103 0.156 N c -1.581 -1.457 1.000 0.409 0.635 0.413 0 0.848 0.180 -0.415 0.071 -0.279 0.085 0.000 0.063 0.000 0.016 1.837 0.029 . ENSG00000189060.4 Whole_Blood 0.9656 0.9911 0.9771 0.9089 1 0.9747 0.9489 0.9574 0.9942 0.9706 0.9909 0.9606 0.9205 1 0.9728 0.9574 0.9571 hom 812.86 32 22 38130472 . T C 812.86 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;QD=25.40;VQSLOD=7.9677;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:66.19:846,66,0 22 38164106 38164106 C T exonic TRIOBP synonymous SNV TRIOBP:NM_007032:exon9:c.C1359T:p.Y453Y,TRIOBP:NM_001039141:exon19:c.C6498T:p.Y2166Y 0.26 0.041 0.3 0.29 0.34 0.44 0.3279 0.0829 0.3560 0.3046 0.3686 0.3328 0.3120 0.4221 0.23 0.075 0.31 0.23 0.31 rs4821708 COSM444972 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000036833.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3151 0.0702 0.3244 0.3650 0.2915 0.3478 0.3135 0.3309 0.4035 0.2495 0.0686 0.3234 0.3841 0.2791 0.3417 0.3174 0.3411 het 367.14 47 22 38164106 . C T 367.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.732;DP=47;Dels=0.00;FS=1.210;HRun=0;HaplotypeScore=1.3302;MQ=59.11;MQ0=0;MQRankSum=0.888;QD=7.81;ReadPosRankSum=-0.455;VQSLOD=6.2701;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,17:47:99:397,0,742 22 38205989 38205989 T C exonic GCAT nonsynonymous SNV GCAT:NM_001171690:exon2:c.T230C:p.L77S 0.28 0.1 0.31 0.31 0.33 0.39 0.3866 0.1893 0.4598 0.4100 0.3822 0.3986 0.3480 0.3968 0.25 0.14 0.31 0.23 0.25 rs2285178 COSN18743989;COSN18744049;COSN23012703;COSN18744172 4(large_intestine) . . . . . . . . . . . 0.17 0.228 T 0.037 0.195 B 0.009 0.133 B . . . 1 0.090 P . . . -3.52 0.947 D -0.09 0.088 N 0.058 0.065 -1.068 0.099 T 0.000 0.000 T . . . -0.414 0.061 0.358 0.755 0.107 0.064 0.122 N c -0.923 -1.020 1.000 0.747 0.706 0.609 0 0.006 0.133 0.160 0.162 0.735 0.307 0.000 0.063 0.049 0.163 4.103 0.094 Aminotransferase\x2c class I/classII|Pyridoxal phosphate-dependent transferase ENSG00000100106.15|ENSG00000100116.12|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100116.12|ENSG00000100106.15|ENSG00000128346.6|ENSG00000100116.12|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100116.12|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100106.15|ENSG00000100116.12|ENSG00000100106.15|ENSG00000100116.12|ENSG00000100106.15|ENSG00000128310.2|ENSG00000100116.12|ENSG00000100116.12|ENSG00000100106.15|ENSG00000100106.15 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood 0.3158 0.1373 0.3394 0.3818 0.3182 0.3238 0.3129 0.3371 0.3545 0.2643 0.1333 0.3329 0.3841 0.3062 0.3139 0.3143 0.3255 het 328.66 30 22 38205989 . T C 328.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.795;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8110;MQ=59.17;MQ0=0;MQRankSum=-0.126;QD=10.96;ReadPosRankSum=0.670;VQSLOD=6.6566;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,13:30:99:359,0,470 22 38273749 38273749 T C exonic EIF3L synonymous SNV EIF3L:NM_001242923:exon9:c.T1002C:p.I334I,EIF3L:NM_016091:exon11:c.T1146C:p.I382I 0.4 0.53 0.43 0.18 0.42 0.42 0.4243 0.5306 0.5108 0.1733 0.4498 0.4322 0.3954 0.3872 0.46 0.51 0.43 0.47 0.42 rs9466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4251 0.5316 0.5027 0.4714 0.1689 0.4502 0.4278 0.4454 0.3850 0.4479 0.5337 0.4904 0.4702 0.1691 0.4493 0.4257 0.4375 het 2156.79 169 22 38273749 . T C 2156.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.972;DP=169;Dels=0.00;FS=9.290;HRun=0;HaplotypeScore=5.7713;MQ=58.15;MQ0=0;MQRankSum=0.344;QD=12.76;ReadPosRankSum=0.797;VQSLOD=4.2095;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:87,82:169:99:2187,0,2423 22 38323507 38323507 G T exonic MICALL1 nonsynonymous SNV MICALL1:NM_033386:exon9:c.G1555T:p.A519S 0.17 0.026 0.26 0.13 0.23 0.26 0.2279 0.0531 0.3120 0.1220 0.2708 0.2451 0.2025 0.2488 0.18 0.057 0.24 0.14 0.18 rs9610875 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.073 0.213 N 1.000 0.446 P -2.34 0.001 N 0.85 0.471 T 0.59 0.026 N 0.02 0.147 -0.951 0.408 T 0.000 0.000 T . . . 0.377 0.130 6.411 0.652 0.075 0.012 0.042 N c -0.891 -0.817 0.476 0.207 0.707 0.730 0 1.63 0.228 1.894 0.392 -0.300 0.081 0.649 0.279 0.127 0.198 7.755 0.279 . ENSG00000272582.1|ENSG00000128298.12|ENSG00000100156.6|ENSG00000100151.11|ENSG00000128310.2|ENSG00000100116.12 Artery_Aorta|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Pancreas|Whole_Blood 0.2318 0.0511 0.2959 0.2153 0.1202 0.2615 0.2448 0.2479 0.2486 0.1885 0.0551 0.2859 0.2219 0.1097 0.2646 0.2466 0.2551 het 1010.08 71 22 38323507 . G T 1010.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.685;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.069;QD=14.23;ReadPosRankSum=0.693;VQSLOD=11.8251;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,35:71:99:1040,0,865 22 38341134 38341134 T C exonic C22orf23 synonymous SNV C22orf23:NM_001207062:exon4:c.A333G:p.T111T,C22orf23:NM_032561:exon5:c.A396G:p.T132T 0.78 0.97 0.67 0.84 0.65 0.69 0.6933 0.9311 0.6283 0.8550 0.6555 0.6508 0.7048 0.6907 0.75 0.93 0.66 0.77 0.62 rs139859 COSM3759185 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6865 0.9348 0.6428 0.6210 0.8565 0.6620 0.6508 0.6546 0.6900 0.7423 0.9335 0.6492 0.6093 0.8787 0.6658 0.6480 0.65 het 2478.08 203 22 38341134 . T C 2478.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.320;DP=203;Dels=0.00;FS=8.062;HRun=3;HaplotypeScore=2.9286;MQ=58.49;MQ0=0;MQRankSum=0.686;QD=12.21;ReadPosRankSum=-2.185;VQSLOD=4.2402;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:107,96:203:99:2508,0,2779 22 38369976 38369976 A G exonic SOX10 synonymous SNV SOX10:NM_006941:exon4:c.T927C:p.H309H 0.71 0.85 0.65 0.75 0.64 0.61 0.6537 0.8221 0.6093 0.7598 0.6245 0.6289 0.6604 0.6348 0.7 0.82 0.63 0.69 0.42 rs139884 COSM4156245 1(thyroid) Benign|Benign|Benign not_specified|Waardenburg_syndrome|PCWH_Syndrome RCV000218215.2|RCV000276693.1|RCV000368913.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen CN169374|C3266898:ORPHA3440:47434006|CN239463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6488 0.8247 0.625 0.5952 0.7595 0.6275 0.6287 0.6248 0.6341 0.6920 0.8266 0.6244 0.6033 0.7833 0.6317 0.6281 0.6207 het 1327.77 116 22 38369976 . A G 1327.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.162;DP=116;Dels=0.00;FS=3.088;HRun=0;HaplotypeScore=1.7608;MQ=59.84;MQ0=0;MQRankSum=0.636;QD=11.45;ReadPosRankSum=-1.398;VQSLOD=6.2145;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,54:116:99:1358,0,1811 22 38474696 38474696 A G exonic SLC16A8 nonsynonymous SNV SLC16A8:NM_013356:exon5:c.T1214C:p.V405A 0.81 0.97 0.72 0.91 0.74 0.63 0.7554 0.9518 0.7053 0.9213 0.7757 0.7312 0.7622 0.6689 0.8 0.94 0.72 0.83 0.72 rs2076371 COSM3759186 1(large_intestine) . . . . . . . . . . . 0.625 0.052 T 0.0 0.026 B 0.001 0.040 B 0.027 0.258 N 1 0.090 P -1.125 0.009 N 0.98 0.421 T 0.41 0.034 N 0.03 0.011 -0.947 0.415 T 0.000 0.000 T . . . -0.152 0.080 1.374 0.555 0.052 0.033 0.083 N c -1.228 -1.092 1.000 0.451 0.516 0.203 0 3.88 0.438 1.656 0.367 0.135 0.219 0.065 0.217 0.450 0.262 9.66 0.389 Major facilitator superfamily domain ENSG00000100151.11|ENSG00000128298.12|ENSG00000100156.6|ENSG00000100151.11|ENSG00000100151.11|ENSG00000100151.11|ENSG00000233739.1 Adipose_Subcutaneous|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.7521 0.9554 0.7166 0.7342 0.9227 0.7870 0.7264 0.7263 0.6705 0.7988 0.9495 0.7160 0.7351 0.9302 0.7858 0.7101 0.7301 het 1058.19 86 22 38474696 . A G 1058.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.126;DP=86;Dels=0.00;FS=15.305;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;MQRankSum=-0.714;QD=12.30;ReadPosRankSum=-0.965;VQSLOD=3.7885;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:46,40:86:99:1088,0,1218 22 38506509 38506509 A G exonic BAIAP2L2 synonymous SNV BAIAP2L2:NM_025045:exon1:c.T24C:p.F8F 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.95 rs4820313 COSM3759190;COSM3759189 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 996.17 34 22 38506509 . A G 996.17 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.30;VQSLOD=12.8367;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:78.25:1029,78,0 22 38823136 38823136 T C exonic KCNJ4 synonymous SNV KCNJ4:NM_004981:exon2:c.A1002G:p.S334S,KCNJ4:NM_152868:exon2:c.A1002G:p.S334S 0.81 0.87 0.68 0.94 0.6 0.89 0.7030 0.8493 0.6925 0.9404 0.6665 0.6134 0.7066 0.8650 0.69 0.84 0.62 0.81 0.53 rs196059 COSM3759192 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6965 0.8490 0.6787 0.6043 0.9397 0.6671 0.6115 0.6700 0.8656 0.7031 0.8405 0.6420 0.6126 0.9333 0.6459 0.6194 0.6588 het 570.92 59 22 38823136 . T C 570.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.925;DP=59;Dels=0.00;FS=2.240;HRun=0;HaplotypeScore=5.0210;MQ=58.86;MQ0=0;MQRankSum=-0.987;QD=9.68;ReadPosRankSum=1.422;VQSLOD=4.6077;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,23:59:99:601,0,1006 22 39178701 39178701 A G exonic DNAL4 synonymous SNV DNAL4:NM_005740:exon2:c.T36C:p.D12D 0.41 0.42 0.24 0.69 0.27 0.38 0.3309 0.3787 0.1906 0.6825 0.2157 0.3007 0.2985 0.3851 0.33 0.38 0.3 0.37 0.26 rs760482 COSM4156270 1(breast);1(thyroid) Benign not_specified RCV000455419.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3203 0.3762 0.1865 0.2660 0.6861 0.2292 0.3027 0.2933 0.3870 0.3355 0.3669 0.2093 0.2967 0.6957 0.2361 0.3123 0.2878 het 1975.17 128 22 39178701 . A G 1975.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.460;DP=128;Dels=0.00;FS=4.372;HRun=0;HaplotypeScore=2.8441;MQ=59.67;MQ0=0;MQRankSum=-0.406;QD=15.43;ReadPosRankSum=0.348;VQSLOD=5.8365;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,75:128:99:2005,0,1291 22 39222652 39222652 G A exonic NPTXR synonymous SNV NPTXR:NM_014293:exon3:c.C951T:p.Y317Y 0.46 0.41 0.28 0.76 0.38 0.42 0.4147 0.3842 0.2232 0.7598 0.3373 0.4080 0.4104 0.4455 0.39 0.38 0.4 0.5 0.36 rs5757299 COSM5038133 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4056 0.3773 0.2297 0.4263 0.7667 0.3601 0.4030 0.3890 0.4481 0.4047 0.3669 0.2518 0.4238 0.7646 0.3670 0.4066 0.3804 het 1424.55 88 22 39222652 . G A 1424.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.379;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=58.68;MQ0=0;MQRankSum=1.982;QD=16.19;ReadPosRankSum=-1.693;VQSLOD=5.4912;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,52:88:99:1455,0,946 22 39381826 39381826 A G exonic APOBEC3B nonsynonymous SNV APOBEC3B:NM_001270411:exon3:c.A184G:p.K62E,APOBEC3B:NM_004900:exon3:c.A184G:p.K62E 0.64 0.68 0.53 0.63 0.6 0.73 0.6016 0.6800 0.5265 0.6425 0.6127 0.5726 0.5805 0.6982 0.61 0.69 0.56 0.52 0.57 rs2076109 COSM3759193 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.72 0.186 T 0.032 0.189 B 0.009 0.133 B . . . 1 0.090 P 0.185 0.091 N -0.14 0.650 T -0.88 0.238 N 0.06 0.051 -0.903 0.477 T 0.000 0.000 T . . . -1.879 0.010 0.002 0.291 0.015 0.002 0.014 N c -2.161 -2.269 0.999 0.377 0.706 0.609 0 -1.15 0.092 -1.909 0.017 -2.897 0.002 0.000 0.063 0.000 0.016 . . APOBEC-like\x2c N-terminal|Cytidine and deoxycytidylate deaminases\x2c zinc-binding|Cytidine deaminase-like . . 0.5889 0.6756 0.5133 0.4936 0.6303 0.6051 0.5695 0.5760 0.6949 0.6012 0.6745 0.5195 0.4796 0.6416 0.6176 0.5592 0.5826 hom 4062.75 133 22 39381826 . A G 4062.75 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47.88;MQ0=0;QD=30.55;VQSLOD=6.5366;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4062,367,0 22 39382079 39382079 C A exonic APOBEC3B nonsynonymous SNV APOBEC3B:NM_001270411:exon3:c.C437A:p.T146K,APOBEC3B:NM_004900:exon3:c.C437A:p.T146K 0.95 0.95 0.96 0.98 0.96 0.9 0.9492 0.9420 0.9694 0.9702 0.9703 0.9542 0.9580 0.9010 0.95 0.94 0.96 0.78 0.9 rs5995649 . . . . . . . . . . . . . 1.0 0.032 T 0.0 0.026 B 0.0 0.093 B . . . 1 0.090 P -1.695 0.004 N -0.02 0.629 T 3.35 0.001 N 0.028 0.166 -0.995 0.313 T 0.000 0.000 T . . . -0.635 0.048 0.103 0.240 0.010 0.004 0.019 N c -2.093 -2.104 1.000 0.422 0.507 0.198 0 -4.25 0.035 -0.437 0.069 -1.887 0.006 0.000 0.063 0.000 0.016 8.894 0.344 APOBEC-like\x2c N-terminal|Cytidine deaminase-like . . 0.9496 0.9403 0.9673 0.8768 0.9704 0.9683 0.9581 0.9503 0.9046 0.9538 0.9398 0.9526 0.87 0.9757 0.9672 0.9586 0.9557 hom 4222.77 127 22 39382079 . C A 4222.77 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2494;MQ=46.94;MQ0=3;QD=33.25;VQSLOD=3.2667;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4222,334,0 22 39440149 39440149 C T exonic APOBEC3F nonsynonymous SNV APOBEC3F:NM_001006666:exon3:c.C233T:p.A78V 0.5 0.2 0.62 0.71 0.49 0.61 0.5862 0.3260 0.7176 0.7396 0.4915 0.5892 0.6479 0.5980 0.44 0.26 0.53 0.37 . rs5750728 . . . . . . . . . . . . . 0.229 0.183 T 0.023 0.176 B 0.006 0.112 B . . . 1 0.090 P . . . 2.28 0.173 T 0.37 0.036 N 0.039 0.019 -1.026 0.217 T 0.000 0.000 T . . . 0.169 0.110 4.352 0.878 0.170 0.001 0.005 N c -1.040 -1.193 0.070 0.155 0.557 0.301 1 0.235 0.146 -0.357 0.076 -0.374 0.066 0.001 0.137 0.000 0.016 . . APOBEC-like\x2c N-terminal|APOBEC/CMP deaminase\x2c zinc-binding|Cytidine and deoxycytidylate deaminases\x2c zinc-binding|Cytidine deaminase-like ENSG00000243811.3|ENSG00000239713.3|ENSG00000128394.12|ENSG00000239713.3|ENSG00000226024.1|ENSG00000243811.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000243811.3|ENSG00000128394.12|ENSG00000239713.3|ENSG00000128394.12|ENSG00000239713.3|ENSG00000243811.3|ENSG00000244509.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000243811.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000239713.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Vagina 0.5259 0.2505 0.6586 0.5294 0.6903 0.3404 0.5174 0.5507 0.5688 0.4272 0.2592 0.6459 0.5464 0.6760 0.3555 0.4973 0.4714 hom 503.41 19 22 39440149 . C T 503.41 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=60.00;MQ0=0;QD=26.50;VQSLOD=6.2869;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:42.13:536,42,0 22 39441203 39441203 C T exonic APOBEC3F synonymous SNV APOBEC3F:NM_145298:exon3:c.C429T:p.R143R 0.59 0.55 0.64 0.71 0.49 0.61 0.5450 0.5433 0.6732 0.6999 0.3428 0.5162 0.5730 0.5711 0.54 0.54 0.53 0.54 0.61 rs4821862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5452 0.5453 0.6708 0.5290 0.6955 0.3431 0.5196 0.5557 0.5668 0.5136 0.5610 0.6531 0.5430 0.6792 0.3562 0.4984 0.4847 hom 3071.70 99 22 39441203 . C T 3071.70 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.585;DP=99;Dels=0.00;FS=4.292;HRun=0;HaplotypeScore=3.2376;MQ=43.33;MQ0=2;MQRankSum=2.756;QD=31.03;ReadPosRankSum=2.054;VQSLOD=2.8368;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:5,93:99:99:3105,209,0 22 39445554 39445554 G A exonic APOBEC3F nonsynonymous SNV APOBEC3F:NM_145298:exon5:c.G691A:p.V231I 0.5 0.19 0.62 0.71 0.49 0.61 0.5160 0.2416 0.6563 0.6975 0.3409 0.5138 0.5551 0.5722 0.43 0.25 0.53 0.38 0.61 rs2076101 COSM5000606 1(pancreas) . . . . . . . . . . . 0.085 0.327 T 0.979 0.571 D 0.81 0.568 P . . . 1 0.090 P 2.495 0.729 M -0.19 0.659 T -0.19 0.100 N 0.024 0.007 -0.936 0.433 T 0.000 0.000 T . . . 1.949 0.295 15.89 0.994 0.647 0.028 0.075 N c -0.437 -0.726 0.776 0.237 0.635 0.413 0 0.462 0.158 -0.145 0.102 -0.289 0.083 0.000 0.063 0.000 0.016 3.917 0.087 APOBEC-like\x2c N-terminal|Cytidine and deoxycytidylate deaminases\x2c zinc-binding ENSG00000243811.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000128394.12|ENSG00000239713.3|ENSG00000226024.1|ENSG00000243811.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000243811.3|ENSG00000128394.12|ENSG00000239713.3|ENSG00000128394.12|ENSG00000239713.3|ENSG00000243811.3|ENSG00000244509.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000243811.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000239713.3|ENSG00000100298.11 Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Vagina|Whole_Blood 0.5226 0.2368 0.6568 0.5301 0.6927 0.3410 0.5174 0.5383 0.5679 0.4204 0.2407 0.6442 0.5433 0.6752 0.3516 0.4953 0.4703 hom 5957.48 204 22 39445554 . G A 5957.48 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4835;MQ=58.71;MQ0=0;QD=29.20;VQSLOD=6.3230;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,204:204:99:5957,469,0 22 39477123 39477123 T C exonic APOBEC3G synonymous SNV APOBEC3G:NM_001349437:exon2:c.T156C:p.F52F,APOBEC3G:NM_001349436:exon3:c.T324C:p.F108F,APOBEC3G:NM_001349438:exon3:c.T357C:p.F119F,APOBEC3G:NM_021822:exon3:c.T357C:p.F119F 0.28 0.029 0.4 0.22 0.45 0.44 0.3717 0.0797 0.3738 0.2304 0.2954 0.4260 0.3998 0.4376 0.32 0.089 0.43 0.21 0.43 rs5757465 COSM149298;COSM3759195 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3746 0.0742 0.3821 0.4524 0.2301 0.2871 0.4281 0.4087 0.4348 0.2919 0.0804 0.3923 0.4233 0.2228 0.2858 0.4120 0.3498 het 1640.52 144 22 39477123 . T C 1640.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.203;DP=144;Dels=0.00;FS=8.142;HRun=0;HaplotypeScore=6.2761;MQ=59.29;MQ0=0;MQRankSum=0.166;QD=11.39;ReadPosRankSum=1.990;VQSLOD=4.1207;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,68:144:99:1671,0,1967 22 39777822 39777822 - CAA exonic SYNGR1 nonframeshift insertion SYNGR1:NM_004711:exon4:c.605_606insCAA:p.P202_T203insN 0.86 0.92 0.79 1. 0.65 0.9 0.7585 0.8974 0.8348 0.9980 0.7103 0.6731 0.6908 0.8545 0.74 0.9 0.66 . . rs72417605 COSM1484245 22(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7558 0.9000 0.8281 0.6642 0.9989 0.7144 0.6694 0.7002 0.8488 0.7470 0.8914 0.8010 0.6755 0.9981 0.6914 0.6502 0.6933 het 1016.42 41 22 39777822 . C CCAA 1016.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.378;DP=41;FS=2.835;HRun=0;HaplotypeScore=135.7320;MQ=53.48;MQ0=0;MQRankSum=-1.477;QD=24.79;ReadPosRankSum=0.657;set=variant2 GT:AD:DP:GQ:PL 0/1:26,15:41:99:1055,0,1031 22 39884942 39884942 G A exonic MGAT3 synonymous SNV MGAT3:NM_001098270:exon1:c.G1590A:p.E530E,MGAT3:NM_002409:exon2:c.G1590A:p.E530E 0.016 0.0015 0.011 0.004 0.037 0.028 0.0338 0.0068 0.0257 0.0031 0.0621 0.0432 0.0418 0.0247 0.02 0.0053 0.028 0.011 0.0082 rs117647351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0245 0.0045 0.0172 0.0246 0.0022 0.0364 0.0314 0.0286 0.0214 0.0229 0.0059 0.0227 0.0265 0.0025 0.0393 0.0309 0.0266 het 282.03 17 22 39884942 . G A 282.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.050;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.17;MQ0=0;MQRankSum=0.854;QD=16.59;ReadPosRankSum=0.754;VQSLOD=6.3552;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,11:17:99:312,0,150 22 39966856 39966856 C T exonic CACNA1I synonymous SNV CACNA1I:NM_001003406:exon1:c.C99T:p.S33S,CACNA1I:NM_021096:exon1:c.C99T:p.S33S 0.33 0.054 0.33 0.73 0.34 0.27 0.3209 0.0891 0.2884 0.7194 0.3901 0.3142 0.3453 0.2654 0.23 0.087 0.3 0.17 . rs3747178 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3235 0.0853 0.2837 0.3023 0.7263 0.3874 0.3081 0.3427 0.2705 0.2808 0.0903 0.2950 0.2848 0.7273 0.3756 0.3155 0.3607 het 604.01 48 22 39966856 . C T 604.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DP=48;Dels=0.00;FS=1.308;HRun=1;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;MQRankSum=0.991;QD=12.58;ReadPosRankSum=0.103;VQSLOD=6.3166;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,23:48:99:634,0,634 22 40054948 40054948 T C exonic CACNA1I synonymous SNV CACNA1I:NM_001003406:exon11:c.T2052C:p.I684I,CACNA1I:NM_021096:exon12:c.T2157C:p.I719I 0.75 0.83 0.74 0.99 0.56 0.58 0.6826 0.8187 0.8550 0.9949 0.6627 0.6112 0.6980 0.5821 0.63 0.79 0.54 0.74 . rs5757761 COSM3759205;COSM1130430;COSM3759204;COSM3759206 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6440 0.8130 0.8203 0.5899 0.9958 0.5962 0.5450 0.6453 0.5574 0.6674 0.7961 0.7995 0.5464 0.9969 0.6239 0.5642 0.6319 hom 670.77 22 22 40054948 . T C 670.77 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=30.49;VQSLOD=9.4918;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:54.17:704,54,0 22 40057273 40057273 T C exonic CACNA1I synonymous SNV CACNA1I:NM_001003406:exon15:c.T2754C:p.S918S,CACNA1I:NM_021096:exon16:c.T2859C:p.S953S 0.74 0.79 0.74 0.99 0.55 0.59 0.6302 0.7667 0.8292 0.9959 0.5975 0.5419 0.6395 0.5767 0.61 0.76 0.53 0.76 . rs136852 COSM3759209;COSM3759207;COSM3759208;COSM3759210 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6329 0.7715 0.8171 0.5787 0.9964 0.5969 0.5325 0.6353 0.5573 0.6521 0.7615 0.7931 0.5367 0.9975 0.6230 0.5540 0.6222 hom 1100.60 37 22 40057273 . T C 1100.60 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.38;MQ0=0;QD=29.75;VQSLOD=8.2834;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:96.27:1134,96,0 22 40283427 40283427 A G exonic ENTHD1 nonsynonymous SNV ENTHD1:NM_152512:exon2:c.T326C:p.I109T 0.047 0.003 0.11 0.001 0.065 0.09 0.0476 0.0112 0.0706 0.0005 0.0274 0.0484 0.0420 0.0913 0.037 0.014 0.048 0.033 . rs17319801 . . . . . . . . . . . . . 0.008 0.586 D 0.532 0.359 P 0.281 0.386 B 0.049 0.232 N 0.329 0.331 P 1.555 0.395 L 0.84 0.475 T -3.62 0.695 D 0.188 0.230 -0.968 0.376 T 0.005 0.017 T . . . 5.394 0.731 26.0 0.994 0.648 0.914 0.533 D c 0.233 0.313 1.000 0.407 0.447 0.083 0 5.41 0.782 5.214 0.648 1.193 0.911 0.506 0.268 1.000 0.888 11.694 0.506 ENTH domain|ENTH/VHS . . 0.0474 0.0086 0.0758 0.0335 0.0007 0.0287 0.0488 0.0490 0.0749 0.0310 0.0094 0.0907 0.0298 0 0.0338 0.0419 0.0470 het 2090.20 149 22 40283427 . A G 2090.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.387;DP=149;Dels=0.00;FS=0.632;HRun=0;HaplotypeScore=1.8914;MQ=59.22;MQ0=0;MQRankSum=0.941;QD=14.03;ReadPosRankSum=-1.708;VQSLOD=6.2137;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,78:149:99:2120,0,1804 22 40814594 40814594 C T exonic MKL1 synonymous SNV MKL1:NM_001282660:exon9:c.G1848A:p.P616P,MKL1:NM_001318139:exon10:c.G1953A:p.P651P,MKL1:NM_001282661:exon11:c.G1698A:p.P566P,MKL1:NM_001282662:exon12:c.G1848A:p.P616P,MKL1:NM_020831:exon12:c.G1848A:p.P616P 0.21 0.31 0.16 0.069 0.16 0.3 0.1973 0.3501 0.0941 0.0733 0.2420 0.1946 0.2187 0.2732 0.22 0.31 0.17 0.13 0.074 rs56211152 COSM4156320 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1894 0.3384 0.1005 0.1407 0.0688 0.2242 0.1905 0.1820 0.2627 0.221 0.3373 0.1268 0.1358 0.0691 0.1944 0.1839 0.2118 het 186 14 22 40814594 . C T 186 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.202;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;MQRankSum=-1.524;QD=13.29;ReadPosRankSum=-1.406;VQSLOD=5.3463;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:216,0,191 22 41548008 41548008 A G exonic EP300 nonsynonymous SNV EP300:NM_001429:exon15:c.A2989G:p.I997V 0.22 0.023 0.51 0.054 0.3 0.38 0.2959 0.0571 0.6294 0.0592 0.3160 0.2854 0.3024 0.3703 0.21 0.06 0.28 0.22 0.27 rs20551 COSM5009621 3(large_intestine) Benign|Benign not_specified|Rubinstein-Taybi_syndrome RCV000079673.7|RCV000293642.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0035934:180849:ORPHA353277:45582004 . . . . . . 0.307 0.141 T 0.0 0.026 B 0.0 0.013 B 0.299 0.146 N 1 0.090 P 0 0.065 N -1.56 0.818 D 0.35 0.038 N 0.014 0.003 -0.944 0.420 T 0.000 0.000 T . . . 0.064 0.100 3.227 0.769 0.113 0.908 0.519 D c -0.741 -0.628 0.532 0.212 0.707 0.730 0 3.62 0.405 2.948 0.485 1.199 0.960 0.997 0.399 0.258 0.229 10.289 0.426 . ENSG00000100412.11|ENSG00000183066.10|ENSG00000100372.10|ENSG00000167077.8|ENSG00000235513.1|ENSG00000100413.12|ENSG00000167074.10 Artery_Tibial|Brain_Frontal_Cortex_BA9|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Testis|Whole_Blood 0.3114 0.0514 0.5986 0.3252 0.0617 0.3149 0.2796 0.3416 0.3703 0.2146 0.0580 0.5453 0.3874 0.0723 0.3272 0.2692 0.2695 het 2448.80 185 22 41548008 . A G 2448.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.567;DP=185;DS;Dels=0.00;FS=2.338;HRun=0;HaplotypeScore=5.8353;MQ=59.24;MQ0=0;MQRankSum=0.478;QD=13.24;ReadPosRankSum=-0.359;VQSLOD=5.2491;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,91:185:99:2479,0,2471 22 41551039 41551039 T A exonic EP300 synonymous SNV EP300:NM_001429:exon17:c.T3183A:p.T1061T 0.67 0.51 0.77 0.82 0.64 0.72 0.6572 0.5088 0.8429 0.8068 0.6114 0.6267 0.6148 0.6866 0.58 0.51 0.62 0.74 0.68 rs20552 COSM4767796 1(bone);2(large_intestine);1(biliary_tract) Benign|Benign not_specified|Rubinstein-Taybi_syndrome RCV000079675.6|RCV000305645.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0035934:180849:ORPHA353277:45582004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6646 0.5022 0.8304 0.6239 0.8117 0.6085 0.6241 0.6674 0.6819 0.5925 0.5116 0.8122 0.6225 0.8058 0.6084 0.5985 0.6133 hom 6737.62 227 22 41551039 . T A 6737.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.441;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9757;MQ=59.47;MQ0=0;MQRankSum=-1.502;QD=29.68;ReadPosRankSum=0.720;VQSLOD=8.0677;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,225:227:99:6698,482,0 22 41613188 41613188 C T exonic L3MBTL2 synonymous SNV L3MBTL2:NM_031488:exon5:c.C582T:p.P194P 0.24 0.11 0.46 0.053 0.31 0.38 0.2980 0.1239 0.5909 0.0587 0.3175 0.2855 0.2991 0.3683 0.23 0.13 0.28 0.23 0.28 rs9611519 COSM149302 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3100 0.1182 0.5612 0.3248 0.0614 0.3162 0.2793 0.3373 0.3678 0.2334 0.1248 0.5012 0.3874 0.0715 0.3298 0.2712 0.2720 het 1939.39 134 22 41613188 . C T 1939.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.189;DP=134;Dels=0.00;FS=3.234;HRun=0;HaplotypeScore=3.7646;MQ=59.36;MQ0=0;MQRankSum=-1.236;QD=14.47;ReadPosRankSum=1.312;VQSLOD=4.4365;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,70:134:99:1969,0,1490 22 41645757 41645757 C G exonic RANGAP1 synonymous SNV RANGAP1:NM_001317930:exon14:c.G1548C:p.L516L,RANGAP1:NM_002883:exon14:c.G1548C:p.L516L,RANGAP1:NM_001278651:exon15:c.G1548C:p.L516L 0.75 0.7 0.84 0.72 0.78 0.75 0.7772 0.7062 0.8824 0.6991 0.8496 0.7780 0.8040 0.7557 0.75 0.7 0.78 0.63 0.69 rs71948 COSM4002193 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7856 0.7075 0.8720 0.8211 0.7103 0.8468 0.7732 0.8064 0.7575 0.7691 0.7085 0.8508 0.8510 0.7296 0.8419 0.7835 0.7998 hom 4118.20 128 22 41645757 . C G 4118.20 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9874;MQ=58.93;MQ0=0;QD=32.17;VQSLOD=9.1966;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4118,322,0 22 41726053 41726053 G A exonic ZC3H7B synonymous SNV ZC3H7B:NM_017590:exon6:c.G471A:p.Q157Q 0.26 0.17 0.54 0.075 0.26 0.37 0.2888 0.1931 0.6725 0.0709 0.2683 0.2521 0.2916 0.3499 0.23 0.19 0.26 0.23 0.21 rs4822021 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3046 0.1890 0.6454 0.3338 0.0717 0.2727 0.2448 0.3264 0.3474 0.2272 0.1898 0.5813 0.3333 0.0725 0.2670 0.2323 0.2587 het 918.46 82 22 41726053 . G A 918.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.195;DP=82;Dels=0.00;FS=0.840;HRun=1;HaplotypeScore=3.2416;MQ=58.72;MQ0=0;MQRankSum=0.413;QD=11.20;ReadPosRankSum=-0.242;VQSLOD=6.3895;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,36:82:99:948,0,1142 22 41752747 41752747 G A exonic ZC3H7B synonymous SNV ZC3H7B:NM_017590:exon22:c.G2616A:p.T872T 0.22 0.054 0.52 0.076 0.24 0.36 0.2631 0.0771 0.6549 0.0708 0.2646 0.2284 0.2711 0.3437 0.18 0.083 0.23 0.17 0.15 rs12484074 COSM4156333 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2823 0.0724 0.6311 0.2996 0.0715 0.2683 0.2227 0.3023 0.3412 0.1840 0.0755 0.5600 0.3079 0.0728 0.2623 0.2139 0.2408 het 2872.98 241 22 41752747 . G A 2872.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.345;DP=241;DS;Dels=0.00;FS=7.130;HRun=0;HaplotypeScore=7.9668;MQ=59.40;MQ0=0;MQRankSum=-0.488;QD=11.92;ReadPosRankSum=0.561;VQSLOD=3.9979;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,118:241:99:2903,0,2995 22 41833116 41833116 C T exonic TOB2 synonymous SNV TOB2:NM_016272:exon2:c.G234A:p.A78A 0.71 0.66 0.52 0.94 0.78 0.61 0.7318 0.6728 0.3972 0.9430 0.7607 0.7891 0.7450 0.6485 0.75 0.67 0.79 0.71 0.82 rs202641 COSM3759220 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7203 0.6787 0.4209 0.6879 0.9416 0.7575 0.7962 0.7103 0.6533 0.7583 0.6706 0.4749 0.7020 0.9423 0.7595 0.8053 0.7704 hom 4739.73 155 22 41833116 . C T 4739.73 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5753;MQ=59.61;MQ0=0;QD=30.58;VQSLOD=6.8765;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,153:155:99:4739,376,0 22 42059768 42059768 G T exonic XRCC6 synonymous SNV XRCC6:NM_001288978:exon12:c.G1629T:p.G543G,XRCC6:NM_001288976:exon13:c.G1779T:p.G593G,XRCC6:NM_001288977:exon13:c.G1656T:p.G552G,XRCC6:NM_001469:exon13:c.G1779T:p.G593G 0.21 0.034 0.21 0.23 0.36 0.26 0.2935 0.0808 0.1630 0.2557 0.3478 0.3569 0.3020 0.2591 0.27 0.092 0.36 0.16 0.33 rs132788 COSM3759221 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2905 0.0755 0.1750 0.2814 0.2487 0.3375 0.3595 0.3125 0.2615 0.2661 0.0825 0.2064 0.2848 0.2587 0.3456 0.3558 0.3049 hom 3640.01 118 22 42059768 . G T 3640.01 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=1;QD=30.85;VQSLOD=8.4446;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,117:118:99:3639,301,0 22 42159229 42159229 G T exonic MEI1 synonymous SNV MEI1:NM_152513:exon19:c.G2172T:p.S724S 0.84 0.98 0.59 0.94 0.8 0.78 0.7858 0.9532 0.4276 0.9411 0.7644 0.8077 0.7628 0.7776 0.86 0.95 0.81 0.87 . rs2050033 COSM3759224;COSM3759223;COSM3759225 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7682 0.9583 0.4532 0.7116 0.9405 0.7637 0.8155 0.7478 0.7744 0.8489 0.9569 0.5131 0.6987 0.9413 0.7633 0.8206 0.8035 hom 3403.58 106 22 42159229 . G T 3403.58 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=32.11;VQSLOD=9.7185;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3403,271,0 22 42416056 42416056 A G exonic WBP2NL nonsynonymous SNV WBP2NL:NM_152613:exon4:c.A362G:p.D121G 0.55 0.47 0.36 0.86 0.48 0.52 0.4998 0.4833 0.3294 0.8569 0.5110 0.4801 0.4747 0.5188 0.47 0.48 0.46 0.43 0.51 rs133335 COSM3759226 1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.463 N 0.998 0.221 P -2.845 0.000 N 3.93 0.035 T 6.9 0.000 N 0.157 0.249 -1.000 0.298 T 0.000 0.000 T . . . 0.273 0.120 5.428 0.127 0.002 0.031 0.079 N c -0.907 -0.596 0.920 0.266 0.554 0.283 0 5.23 0.725 5.647 0.674 0.138 0.222 1.000 0.715 0.789 0.333 13.100 0.585 PH domain-like|WW-domain-binding protein ENSG00000183172.8|ENSG00000100197.16|ENSG00000183172.8|ENSG00000100197.16|ENSG00000100197.16|ENSG00000183172.8|ENSG00000100197.16|ENSG00000198951.7|ENSG00000100197.16|ENSG00000183066.10|ENSG00000100197.16|ENSG00000183066.10|ENSG00000100197.16|ENSG00000205704.5|ENSG00000100197.16|ENSG00000100197.16|ENSG00000100197.16|ENSG00000100197.16|ENSG00000100197.16|ENSG00000100197.16|ENSG00000183172.8|ENSG00000198951.7|ENSG00000100197.16|ENSG00000100197.16|ENSG00000183172.8|ENSG00000183172.8|ENSG00000100197.16|ENSG00000183172.8|ENSG00000183172.8|ENSG00000100197.16|ENSG00000183172.8|ENSG00000100197.16|ENSG00000198951.7|ENSG00000198951.7|ENSG00000213790.2|ENSG00000237037.5|ENSG00000183172.8|ENSG00000100197.16|ENSG00000183172.8|ENSG00000183172.8|ENSG00000183066.10|ENSG00000198951.7|ENSG00000215347.3|ENSG00000100197.16|ENSG00000232710.1|ENSG00000198951.7|ENSG00000100197.16|ENSG00000100197.16|ENSG00000198951.7|ENSG00000183172.8|ENSG00000100197.16|ENSG00000183172.8|ENSG00000100197.16|ENSG00000100197.16|ENSG00000183066.10|ENSG00000232710.1|ENSG00000273366.1|ENSG00000183172.8|ENSG00000183066.10|ENSG00000198951.7|ENSG00000237037.5|ENSG00000232710.1|ENSG00000215347.3|ENSG00000100197.16|ENSG00000183172.8|ENSG00000100197.16 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.4920 0.4771 0.3285 0.4665 0.8585 0.5090 0.4783 0.4724 0.5220 0.5001 0.4857 0.3305 0.4967 0.8630 0.5456 0.4692 0.4847 hom 4825.28 160 22 42416056 . A G 4825.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.710;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1938;MQ=59.23;MQ0=0;MQRankSum=1.184;QD=30.16;ReadPosRankSum=-1.491;VQSLOD=7.3266;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,158:160:99:4825,370,0 22 42423110 42423110 G C exonic WBP2NL nonsynonymous SNV WBP2NL:NM_152613:exon6:c.G855C:p.Q285H 0.78 0.95 0.7 0.85 0.67 0.63 0.7059 0.9067 0.7780 0.8552 0.6145 0.6728 0.6399 0.6249 0.75 0.9 0.67 0.74 0.67 rs2301521 . . . . . . . . . . . . . 0.648 0.057 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.6 0.004 N 2.22 0.227 T 0.47 0.031 N 0.056 0.039 -1.048 0.148 T 0.000 0.000 T . . . -2.857 0.002 0.001 0.113 0.002 0.001 0.009 N c -2.934 -2.971 1.000 0.747 0.447 0.083 0 -7.78 0.011 -1.274 0.029 -3.675 0.001 0.000 0.063 0.000 0.016 0.360 0.003 . ENSG00000183172.8|ENSG00000183172.8|ENSG00000226450.2|ENSG00000183172.8|ENSG00000183172.8|ENSG00000183172.8|ENSG00000183172.8|ENSG00000183172.8|ENSG00000232710.1|ENSG00000183172.8|ENSG00000237037.5|ENSG00000232710.1|ENSG00000177096.4|ENSG00000183172.8|ENSG00000183172.8|ENSG00000183172.8|ENSG00000183172.8|ENSG00000177096.4|ENSG00000183172.8|ENSG00000183172.8|ENSG00000237037.5|ENSG00000226450.2|ENSG00000183172.8|ENSG00000183172.8|ENSG00000100197.16|ENSG00000226450.2|ENSG00000183172.8|ENSG00000183172.8|ENSG00000198951.7|ENSG00000232710.1|ENSG00000183172.8|ENSG00000183172.8|ENSG00000183172.8|ENSG00000232710.1|ENSG00000183172.8|ENSG00000237037.5|ENSG00000232710.1|ENSG00000232710.1|ENSG00000183172.8|ENSG00000226450.2|ENSG00000183172.8|ENSG00000198951.7|ENSG00000205702.6|ENSG00000183172.8|ENSG00000183172.8|ENSG00000183172.8|ENSG00000100197.16|ENSG00000226450.2|ENSG00000183172.8|ENSG00000205702.6|ENSG00000100197.16|ENSG00000226450.2|ENSG00000183172.8|ENSG00000100197.16|ENSG00000183172.8|ENSG00000183172.8|ENSG00000237037.5|ENSG00000183172.8|ENSG00000183066.10|ENSG00000232710.1|ENSG00000183172.8|ENSG00000198951.7|ENSG00000237037.5|ENSG00000232710.1|ENSG00000205702.6|ENSG00000100197.16|ENSG00000226450.2|ENSG00000183172.8|ENSG00000183172.8|ENSG00000183172.8|ENSG00000177096.4|ENSG00000100197.16 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood 0.7010 0.9101 0.7591 0.6520 0.8571 0.6108 0.6752 0.6763 0.6258 0.7445 0.9094 0.7303 0.7020 0.8589 0.6572 0.6633 0.6650 hom 5931.98 195 22 42423110 . G C 5931.98 Mask AC=2;AF=1.00;AN=2;DP=195;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4308;MQ=59.38;MQ0=0;QD=30.42;VQSLOD=8.4285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,195:195:99:5931,502,0 22 42463814 42463814 C T exonic NAGA synonymous SNV NAGA:NM_000262:exon3:c.G279A:p.P93P 0.68 0.57 0.68 0.85 0.67 0.65 0.6728 0.5864 0.7611 0.8523 0.6149 0.6666 0.6211 0.6223 0.64 0.6 0.67 0.58 0.71 rs133369 COSM3759227 1(large_intestine) Benign|Benign|Benign not_specified|Schindler_disease\x2c_type_1|Kanzaki_disease RCV000177025.1|RCV000282713.1|RCV000322543.1 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet CN169374|C1836544:609241|C1836522:609242:ORPHA79280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6747 0.5871 0.7415 0.6031 0.8553 0.6128 0.6719 0.6551 0.6230 0.6510 0.5871 0.7093 0.6523 0.8572 0.6568 0.6610 0.6537 hom 6160.06 176 22 42463814 . C T 6160.06 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6538;MQ=59.87;MQ0=0;QD=35.00;VQSLOD=9.1902;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:6160,482,0 22 42473603 42473603 C T exonic FAM109B synonymous SNV FAM109B:NM_001002034:exon3:c.C306T:p.A102A 0.33 0.053 0.5 0.29 0.46 0.48 0.4372 0.1095 0.6273 0.3194 0.4971 0.4560 0.4290 0.4717 0.33 0.12 0.44 0.18 0.43 rs133383 COSM3759228 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4458 0.1050 0.5985 0.3572 0.3061 0.4963 0.4580 0.4495 0.4734 0.3586 0.1136 0.5526 0.3874 0.2989 0.5344 0.4494 0.4499 hom 4791.48 147 22 42473603 . C T 4791.48 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3670;MQ=60.00;MQ0=0;QD=32.60;VQSLOD=8.4424;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4791,370,0 22 42522613 42522613 G C exonic CYP2D6 nonsynonymous SNV CYP2D6:NM_001025161:exon8:c.C1304G:p.T435S,CYP2D6:NM_000106:exon9:c.C1457G:p.T486S 0.4 0.32 0.52 0.3 0.45 0.47 0.4556 0.3618 0.6368 0.2987 0.5008 0.4482 0.4491 0.4808 0.41 0.36 0.43 0.32 0.39 rs1135840 COSM1599976;COSM1599977 1(pancreas);1(large_intestine);1(central_nervous_system) drug response Debrisoquine\x2c_ultrarapid_metabolism_of RCV000018391.27 MedGen C1837157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4524 0.3521 0.6062 0.3456 0.2842 0.4876 0.4448 0.4515 0.4642 0.4196 0.3487 0.5652 0.3742 0.2780 0.5282 0.4400 0.4555 hom 1311.35 42 22 42522613 . G C 1311.35 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53.44;MQ0=0;QD=31.22;VQSLOD=7.6509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1344,102,0 22 42523943 42523943 A G exonic CYP2D6 nonsynonymous SNV CYP2D6:NM_001025161:exon5:c.T733C:p.C245R,CYP2D6:NM_000106:exon6:c.T886C:p.C296R 0.64 0.45 0.67 0.86 0.66 0.64 0.6567 0.4802 0.7514 0.8515 0.6070 0.6571 0.6134 0.6199 0.6 0.49 0.66 0.5 0.69 rs16947 COSM1130422;COSM1130423 19(soft_tissue);1(prostate);1(large_intestine) drug response Debrisoquine\x2c_ultrarapid_metabolism_of RCV000018391.27 MedGen C1837157 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6602 0.4780 0.7305 0.5966 0.8532 0.6019 0.6631 0.6432 0.6202 0.6150 0.4759 0.7 0.65 0.8514 0.6486 0.6542 0.6362 hom 4222.01 141 22 42523943 . A G 4222.01 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.11;MQ0=1;QD=29.94;VQSLOD=7.3106;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4221,337,0 22 42524176 42524178 CTT - exonic CYP2D6 nonframeshift deletion CYP2D6:NM_001025161:exon4:c.688_690del:p.K230del,CYP2D6:NM_000106:exon5:c.841_843del:p.K281del 0.0072 0.0008 0.013 . 0.026 . 0.0190 0.0045 0.0128 0 0.0156 0.0304 0.0074 0.0020 0.02 0.0059 0.027 . . rs869035800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0153 0.0035 0.0121 0.0033 0 0.0128 0.0256 0.0142 0.0021 0.0161 0.0045 0.0144 0.0099 0 0.0123 0.0257 0.0144 het 379.34 31 22 42524175 . CCTT C 379.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.557;DP=31;FS=0.000;HRun=0;HaplotypeScore=125.1484;MQ=53.58;MQ0=1;MQRankSum=-0.528;QD=10.54;ReadPosRankSum=0.401;set=variant2 GT:AD:DP:GQ:PL 0/1:23,13:31:99:418,0,1319 22 42538029 42538029 A G exonic CYP2D7 unknown UNKNOWN 0.55 0.13 0.65 0.85 0.66 0.64 0.6363 0.2025 0.7395 0.8489 0.6200 0.6638 0.6098 0.6222 . . . 0.33 . rs1058167 COSN15640666;COSN15644710;COSN15646420;COSN15630158;COSN15633894;COSN15630976;COSN15631805;COSN15641459;COSN15639814;COSN15628468;COSN15643042;COSN15642260;COSN15647224;COSN15635562;COSN15638986;COSN15645583;COSN24411155;COSN15638091;COSN15629289;COSN15636405;COSN15632933 1(lung);20(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6451 0.1935 0.7192 0.5985 0.8529 0.6145 0.6695 0.6337 0.6231 0.5408 0.2038 0.6954 0.65 0.8542 0.6557 0.6593 0.6351 hom 2594.78 94 22 42538029 . A G 2594.78 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9973;MQ=45.58;MQ0=3;QD=27.60;VQSLOD=2.8578;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2628,217,0 22 42912029 42912029 G T exonic RRP7A synonymous SNV RRP7A:NM_015703:exon3:c.C330A:p.P110P 0.23 0.39 0.12 0.15 0.2 0.23 0.2179 0.3551 0.0935 0.1225 0.1961 0.2184 0.2134 0.2880 0.26 0.36 0.21 0.27 0.16 rs3201001 COSM3766716 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2027 0.3575 0.1013 0.1887 0.1199 0.1912 0.2168 0.1982 0.2452 0.2465 0.3638 0.1110 0.2119 0.1122 0.1962 0.2153 0.2107 het 436.85 47 22 42912029 . G T 436.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.011;DP=47;Dels=0.00;FS=2.790;HRun=2;HaplotypeScore=0.0000;MQ=57.32;MQ0=0;MQRankSum=0.822;QD=9.29;ReadPosRankSum=0.731;VQSLOD=4.2862;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,18:47:99:467,0,763 22 42912097 42912097 C T exonic RRP7A nonsynonymous SNV RRP7A:NM_015703:exon3:c.G262A:p.V88I 0.076 0.057 0.18 0.003 0.15 0.034 0.1271 0.0719 0.2626 0.0010 0.2025 0.1408 0.1396 0.0472 0.12 0.078 0.14 0.098 0.12 rs11553441 . . . . . . . . . . . . . 0.013 0.538 D 0.941 0.509 P 0.373 0.419 B 0.000 0.843 D 0.000 0.588 P 2.67 0.784 M 2.21 0.184 T -0.84 0.229 N 0.133 0.153 -1.004 0.288 T 0.000 0.000 T . . . 2.012 0.303 16.29 0.972 0.324 0.856 0.445 D c -0.235 -0.352 1.000 0.500 0.707 0.730 0 2.9 0.327 3.929 0.560 -0.043 0.124 0.983 0.354 0.014 0.122 12.115 0.530 Nucleotide-binding alpha-beta plait domain|RNA recognition motif domain ENSG00000189306.6|ENSG00000189306.6|ENSG00000189306.6|ENSG00000189306.6|ENSG00000189306.6|ENSG00000189306.6|ENSG00000172250.10|ENSG00000189306.6|ENSG00000182841.8|ENSG00000183569.13|ENSG00000172250.10|ENSG00000189306.6 Adrenal_Gland|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood|Whole_Blood 0.1324 0.0727 0.2515 0.0577 0.0008 0.2047 0.1404 0.1391 0.0478 0.1252 0.0750 0.2285 0.0464 0.0006 0.1888 0.1481 0.1401 het 588.17 41 22 42912097 . C T 588.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.353;DP=41;Dels=0.00;FS=6.909;HRun=0;HaplotypeScore=0.8321;MQ=59.74;MQ0=0;MQRankSum=1.033;QD=14.35;ReadPosRankSum=-0.301;VQSLOD=4.9164;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,22:41:99:618,0,518 22 43088971 43088971 C T exonic A4GALT synonymous SNV A4GALT:NM_001318038:exon3:c.G987A:p.T329T,A4GALT:NM_017436:exon3:c.G987A:p.T329T 0.35 0.5 0.34 0.13 0.38 0.34 0.3524 0.4807 0.3930 0.1494 0.3180 0.3606 0.3483 0.3303 0.4 0.47 0.37 0.41 0.3 rs9623659 COSM3759232 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3502 0.4808 0.3900 0.3895 0.1457 0.3053 0.3608 0.3700 0.3339 0.3693 0.4834 0.3786 0.4040 0.1422 0.2886 0.3480 0.3272 het 984.53 75 22 43088971 . C T 984.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DP=75;Dels=0.00;FS=9.572;HRun=0;HaplotypeScore=0.8667;MQ=59.69;MQ0=0;MQRankSum=-0.603;QD=13.13;ReadPosRankSum=-0.123;VQSLOD=4.3626;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,42:75:99:1015,0,781 22 43089055 43089055 G C exonic A4GALT synonymous SNV A4GALT:NM_001318038:exon3:c.C903G:p.P301P,A4GALT:NM_017436:exon3:c.C903G:p.P301P 0.7 0.86 0.61 0.71 0.59 0.63 0.6130 0.8239 0.6252 0.7155 0.6057 0.5718 0.5989 0.5869 0.65 0.82 0.57 0.78 0.39 rs6002904 COSM3720658 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6078 0.8299 0.6183 0.5691 0.7155 0.5936 0.5692 0.5936 0.5897 0.6580 0.8364 0.6172 0.5767 0.7171 0.5956 0.5703 0.5932 hom 1840.62 67 22 43089055 . G C 1840.62 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.31;MQ0=0;QD=27.47;VQSLOD=7.1394;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1874,153,0 22 43089849 43089849 T C exonic A4GALT nonsynonymous SNV A4GALT:NM_001318038:exon3:c.A109G:p.M37V,A4GALT:NM_017436:exon3:c.A109G:p.M37V 0.35 0.51 0.34 0.13 0.38 0.34 0.3867 0.5118 0.4301 0.1730 0.3768 0.3958 0.3934 0.3536 0.4 0.47 0.37 0.37 0.2 rs11541159 COSM3759233 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.414 0.100 T 0.0 0.026 B 0.0 0.013 B 0.314 0.144 U 1 0.090 P 1.87 0.498 L -1.33 0.799 T -0.71 0.202 N 0.048 0.029 -1.048 0.149 T 0.000 0.000 T . . . -1.182 0.026 0.007 0.738 0.101 0.035 0.085 N c -1.376 -1.356 1.000 0.747 0.732 0.924 0 -4.6 0.031 -1.476 0.024 0.025 0.148 0.000 0.063 0.991 0.552 3.711 0.079 Nucleotide-diphospho-sugar transferases ENSG00000128274.11|ENSG00000100243.16 Esophagus_Muscularis|Muscle_Skeletal 0.3491 0.4807 0.3883 0.3902 0.1442 0.3031 0.3606 0.3720 0.3333 0.3701 0.4869 0.3732 0.4 0.1434 0.2883 0.3477 0.3286 het 255.31 25 22 43089849 . T C 255.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.356;DP=25;Dels=0.00;FS=3.909;HRun=0;HaplotypeScore=1.5741;MQ=57.02;MQ0=0;MQRankSum=0.082;QD=10.21;ReadPosRankSum=-0.082;VQSLOD=4.4296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,11:25:99:285,0,396 22 43195147 43195147 A G exonic ARFGAP3 synonymous SNV ARFGAP3:NM_001142293:exon14:c.T1299C:p.S433S,ARFGAP3:NM_014570:exon15:c.T1431C:p.S477S 0.38 0.51 0.38 0.081 0.46 0.42 0.4208 0.5121 0.3527 0.0791 0.3627 0.4667 0.4227 0.4274 0.49 0.52 0.48 0.38 0.42 rs1128013 COSM3759234 1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4166 0.5105 0.3660 0.4322 0.0798 0.3589 0.4760 0.4272 0.4332 0.4442 0.5077 0.3974 0.4636 0.0865 0.3611 0.4696 0.4121 het 2399.66 188 22 43195147 . A G 2399.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.166;DP=188;DS;Dels=0.00;FS=5.185;HRun=0;HaplotypeScore=7.0968;MQ=59.75;MQ0=0;MQRankSum=-0.463;QD=12.76;ReadPosRankSum=-0.724;VQSLOD=4.1942;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,85:188:99:2430,0,2749 22 43203137 43203137 C T exonic ARFGAP3 synonymous SNV ARFGAP3:NM_001142293:exon13:c.G1221A:p.S407S,ARFGAP3:NM_014570:exon14:c.G1353A:p.S451S 0.31 0.29 0.37 0.085 0.44 0.4 0.3894 0.3461 0.3396 0.0842 0.3455 0.4408 0.4012 0.4238 0.42 0.35 0.45 0.27 0.37 rs738535 COSM3759235 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3803 0.3247 0.3455 0.4127 0.0833 0.3297 0.4410 0.3977 0.4179 0.3779 0.3361 0.3789 0.4433 0.0889 0.3358 0.4414 0.3867 het 557.65 57 22 43203137 . C T 557.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.423;DP=57;Dels=0.00;FS=1.033;HRun=0;HaplotypeScore=0.9867;MQ=59.34;MQ0=0;MQRankSum=-0.854;QD=9.78;ReadPosRankSum=-2.041;VQSLOD=5.6662;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,23:57:99:588,0,822 22 43206950 43206950 A C exonic ARFGAP3 nonsynonymous SNV ARFGAP3:NM_001142293:exon11:c.T933G:p.S311R,ARFGAP3:NM_014570:exon12:c.T1065G:p.S355R 0.7 0.92 0.74 0.64 0.54 0.61 0.5996 0.8676 0.7805 0.6470 0.4567 0.5373 0.5489 0.5901 0.65 0.86 0.55 0.72 0.46 rs1018448 COSM5003030 1(pancreas) . . . . . . . . . . . 0.749 0.036 T 0.0 0.026 B 0.002 0.063 B 0.003 0.358 N 0.973 0.278 P -1.85 0.003 N 3.48 0.053 T 2.16 0.004 N 0.055 0.052 -1.002 0.292 T 0.000 0.000 T . . . 1.132 0.203 11.39 0.423 0.031 0.016 0.051 N c -0.873 -0.631 0.996 0.345 0.707 0.730 0 4.2 0.486 0.997 0.291 0.014 0.141 1.000 0.715 0.700 0.309 4.354 0.105 . ENSG00000242247.6|ENSG00000242247.6|ENSG00000100266.13|ENSG00000242247.6|ENSG00000242247.6|ENSG00000242247.6|ENSG00000242247.6|ENSG00000100266.13 Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood|Whole_Blood 0.5996 0.8727 0.7762 0.5338 0.6378 0.4563 0.5416 0.5743 0.5892 0.6323 0.8697 0.7775 0.5397 0.6343 0.4653 0.5326 0.5369 het 1263.94 93 22 43206950 . A C 1263.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.462;DP=93;Dels=0.00;FS=1.089;HRun=1;HaplotypeScore=13.2055;MQ=59.25;MQ0=0;MQRankSum=0.242;QD=13.59;ReadPosRankSum=0.573;VQSLOD=3.2265;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:48,45:93:99:1294,0,1358 22 43278220 43278220 C T exonic PACSIN2 synonymous SNV PACSIN2:NM_001349974:exon6:c.G753A:p.P251P,PACSIN2:NM_001184970:exon7:c.G876A:p.P292P,PACSIN2:NM_001184971:exon7:c.G876A:p.P292P,PACSIN2:NM_001349968:exon7:c.G876A:p.P292P,PACSIN2:NM_001349969:exon7:c.G876A:p.P292P,PACSIN2:NM_001349970:exon7:c.G876A:p.P292P,PACSIN2:NM_001349971:exon7:c.G876A:p.P292P,PACSIN2:NM_001349972:exon7:c.G876A:p.P292P,PACSIN2:NM_001349973:exon7:c.G876A:p.P292P,PACSIN2:NM_007229:exon7:c.G876A:p.P292P 0.34 0.36 0.38 0.093 0.46 0.42 0.4130 0.4123 0.3512 0.0957 0.3644 0.4661 0.4143 0.4276 0.46 0.41 0.48 0.33 0.41 rs2899365 COSM3759236 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4105 0.4074 0.3627 0.4301 0.0953 0.3611 0.4754 0.4199 0.4328 0.4178 0.4098 0.3902 0.4570 0.1014 0.3625 0.4710 0.4082 het 1319.87 113 22 43278220 . C T 1319.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.011;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6883;MQ=59.30;MQ0=0;MQRankSum=0.785;QD=11.68;ReadPosRankSum=-0.553;VQSLOD=6.3626;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,49:113:99:1350,0,1681 22 43289473 43289473 G A exonic PACSIN2 synonymous SNV PACSIN2:NM_001349974:exon2:c.C84T:p.L28L,PACSIN2:NM_001184970:exon3:c.C207T:p.L69L,PACSIN2:NM_001184971:exon3:c.C207T:p.L69L,PACSIN2:NM_001349968:exon3:c.C207T:p.L69L,PACSIN2:NM_001349969:exon3:c.C207T:p.L69L,PACSIN2:NM_001349970:exon3:c.C207T:p.L69L,PACSIN2:NM_001349971:exon3:c.C207T:p.L69L,PACSIN2:NM_001349972:exon3:c.C207T:p.L69L,PACSIN2:NM_001349973:exon3:c.C207T:p.L69L,PACSIN2:NM_007229:exon3:c.C207T:p.L69L 0.27 0.16 0.36 0.093 0.43 0.4 0.3761 0.2066 0.3343 0.0958 0.3371 0.4373 0.3980 0.4159 0.37 0.21 0.45 0.21 0.3 rs5759013 COSM3759237 1(liver);2(thyroid);6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3754 0.1954 0.3458 0.4196 0.0951 0.3335 0.4431 0.3953 0.4216 0.3406 0.2017 0.3723 0.4530 0.1002 0.3350 0.4422 0.3827 het 476.34 47 22 43289473 . G A 476.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.815;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=59.11;MQ0=0;MQRankSum=1.169;QD=10.13;ReadPosRankSum=-0.265;VQSLOD=6.7562;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,21:47:99:506,0,706 22 43455531 43455531 C T exonic TTLL1 synonymous SNV TTLL1:NM_012263:exon8:c.G750A:p.E250E 0.15 0.077 0.24 0.001 0.28 0.2 0.2607 0.1101 0.2779 0.0009 0.2829 0.3080 0.3114 0.2731 0.23 0.11 0.3 0.13 0.2 rs1132079 COSM3759239 1(large_intestine) Benign not_specified RCV000454416.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2514 0.1016 0.2558 0.4407 0.0011 0.2614 0.2882 0.2864 0.2559 0.2121 0.1055 0.2656 0.4437 0.0037 0.2491 0.2758 0.2869 het 397.84 30 22 43455531 . C T 397.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.185;DP=30;Dels=0.00;FS=1.826;HRun=1;HaplotypeScore=0.0000;MQ=57.01;MQ0=0;MQRankSum=0.561;QD=13.26;ReadPosRankSum=0.229;VQSLOD=4.6378;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,16:30:99:428,0,440 22 43459846 43459846 G A exonic TTLL1 synonymous SNV TTLL1:NM_012263:exon7:c.C720T:p.L240L 0.15 0.078 0.24 0.001 0.28 0.2 0.2481 0.1035 0.2593 0.0008 0.2560 0.2977 0.3007 0.2545 0.23 0.11 0.3 0.13 0.22 rs1052160 COSM3759240 1(large_intestine) Benign not_specified RCV000455080.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2523 0.1024 0.2567 0.4452 0.0010 0.2620 0.2886 0.2866 0.2560 0.2124 0.1057 0.2661 0.4467 0.0037 0.2497 0.2760 0.2863 het 2064.34 172 22 43459846 . G A 2064.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.300;DP=172;Dels=0.00;FS=4.854;HRun=1;HaplotypeScore=2.6124;MQ=59.65;MQ0=0;MQRankSum=0.661;QD=12.00;ReadPosRankSum=0.167;VQSLOD=5.9337;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:90,82:172:99:2094,0,2333 22 43529314 43529314 G C exonic MCAT nonsynonymous SNV MCAT:NM_173467:exon4:c.C908G:p.A303G 0.49 0.22 0.54 0.64 0.66 0.48 0.6045 0.2737 0.5617 0.5944 0.7067 0.6766 0.5883 0.5168 0.55 0.29 0.68 0.38 0.66 rs13815 COSM3759241 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.986 0.810 P -0.36 0.031 N 1.1 0.390 T 4.55 0.000 N 0.089 0.086 -0.960 0.392 T 0.000 0.000 T . . . 0.581 0.150 8.023 0.542 0.050 0.077 0.135 N c -0.985 -0.805 1.000 0.747 0.719 0.830 0 5.46 0.799 3.048 0.493 0.067 0.174 0.805 0.295 0.003 0.074 16.463 0.838 Acyl transferase|Acyl transferase domain|Acyl transferase/acyl hydrolase/lysophospholipase ENSG00000100294.8|ENSG00000100294.8|ENSG00000100294.8|ENSG00000100294.8|ENSG00000100294.8|ENSG00000100294.8 Artery_Aorta|Artery_Tibial|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial 0.6074 0.2635 0.5574 0.5705 0.5973 0.6985 0.6810 0.6089 0.5168 0.5679 0.2669 0.5752 0.5967 0.6098 0.7150 0.6976 0.6575 het 1942.24 155 22 43529314 . G C 1942.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.108;DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.5626;MQ=59.85;MQ0=0;MQRankSum=1.311;QD=12.53;ReadPosRankSum=-0.985;VQSLOD=4.2276;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,75:155:99:1972,0,2319 22 43558926 43558926 A G exonic TSPO nonsynonymous SNV TSPO:NM_000714:exon4:c.A439G:p.T147A,TSPO:NM_001256530:exon4:c.A439G:p.T147A,TSPO:NM_001256531:exon4:c.A439G:p.T147A 0.83 0.83 0.85 0.95 0.66 0.86 0.7763 0.8139 0.8815 0.9758 0.6974 0.7099 0.7347 0.8465 0.73 0.8 0.69 0.75 0.38 rs6971 COSM445087 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.237 P -3.225 0.000 N 1.65 0.276 T 3.67 0.001 N 0.067 0.062 -0.973 0.366 T 0.000 0.000 T . . . -0.556 0.052 0.160 0.650 0.074 0.147 0.183 N c -1.206 -0.959 1.000 0.473 0.672 0.522 0 3.63 0.406 7.419 0.792 0.063 0.168 1.000 0.715 0.040 0.157 9.973 0.407 . . . 0.7576 0.8005 0.8621 0.6999 0.9782 0.6714 0.6814 0.7398 0.8426 0.7432 0.8125 0.8505 0.7285 0.9846 0.6764 0.6879 0.7213 hom 408.07 14 22 43558926 . A G 408.07 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=29.15;VQSLOD=8.8595;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:441,36,0 22 43568512 43568512 C T exonic TTLL12 nonsynonymous SNV TTLL12:NM_015140:exon10:c.G1390A:p.V464M 0.2 0.06 0.16 0.24 0.25 0.34 0.2297 0.0853 0.1553 0.2230 0.2386 0.2421 0.2439 0.3215 0.19 0.087 0.24 0.17 0.17 rs34074034 . . . . . . . . . . . . . 0.005 0.632 D 0.999 0.764 D 0.971 0.754 D 0.000 0.629 D 0.000 0.588 P 2.505 0.732 M 3.12 0.081 T -2.0 0.461 N 0.198 0.243 -1.153 0.009 T 0.000 0.000 T . . . 6.868 0.929 33 0.999 0.967 0.981 0.791 D c 0.698 0.624 1.000 0.747 0.707 0.730 0 5.31 0.750 5.626 0.672 0.935 0.490 1.000 0.715 0.841 0.351 18.968 0.926 . ENSG00000100300.13|ENSG00000100300.13|ENSG00000100300.13|ENSG00000100300.13|ENSG00000100300.13|ENSG00000100300.13 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial 0.2303 0.0783 0.1577 0.2264 0.2299 0.2504 0.2437 0.2374 0.3216 0.1882 0.0786 0.1539 0.1980 0.2466 0.2631 0.2289 0.2025 het 1131.66 115 22 43568512 . C T 1131.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.052;DP=115;Dels=0.00;FS=8.113;HRun=0;HaplotypeScore=3.6942;MQ=59.60;MQ0=0;MQRankSum=-0.314;QD=9.84;ReadPosRankSum=0.743;VQSLOD=3.7069;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,42:115:99:1162,0,1729 22 43576880 43576880 C A exonic TTLL12 synonymous SNV TTLL12:NM_015140:exon3:c.G414T:p.V138V 0.048 0.052 0.069 0.001 0.09 0.033 0.0771 0.0702 0.0534 0.0006 0.0597 0.1001 0.0756 0.0536 0.095 0.072 0.11 0.076 0.074 rs11090144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0772 0.0704 0.0565 0.0694 0.0005 0.0676 0.1050 0.0892 0.0534 0.0803 0.0754 0.0740 0.0629 0.0012 0.0687 0.0955 0.0754 het 1848.47 139 22 43576880 . C A 1848.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.278;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5621;MQ=59.06;MQ0=0;MQRankSum=-0.790;QD=13.30;ReadPosRankSum=-1.267;VQSLOD=3.7741;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:69,70:139:99:1878,0,1983 22 43576904 43576904 G A exonic TTLL12 synonymous SNV TTLL12:NM_015140:exon3:c.C390T:p.H130H 0.33 0.24 0.39 0.32 0.41 0.33 0.3871 0.2467 0.4614 0.2867 0.4073 0.4136 0.3628 0.3619 0.35 0.25 0.4 0.27 0.2 rs2071723 COSM445089 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3901 0.2430 0.4513 0.3618 0.2934 0.4002 0.4130 0.3929 0.3685 0.3676 0.2452 0.4342 0.3775 0.2973 0.4143 0.4289 0.4122 het 1372.47 100 22 43576904 . G A 1372.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.293;DP=100;Dels=0.00;FS=10.925;HRun=0;HaplotypeScore=0.9995;MQ=59.29;MQ0=0;MQRankSum=-1.803;QD=13.72;ReadPosRankSum=0.445;VQSLOD=3.5843;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,52:100:99:1402,0,1379 22 43579049 43579049 T C exonic TTLL12 nonsynonymous SNV TTLL12:NM_015140:exon2:c.A284G:p.N95S 0.05 0.052 0.069 0.001 0.097 0.034 0.0799 0.0696 0.0539 0.0006 0.0818 0.1027 0.0760 0.0538 0.096 0.073 0.11 0.098 0.11 rs13058467 COSM4156364 1(pancreas);1(thyroid) . . . . . Molar-incisor hypomineralization 4.40 . 23918034 rs13058467 4E-7 0.88 0.025 T 0.0 0.026 B 0.001 0.040 B 0.753 0.097 N 1 0.090 P 0.235 0.097 N 3.28 0.065 T -0.3 0.119 N 0.004 0.000 -0.912 0.466 T 0.000 0.001 T . . . -1.374 0.020 0.004 0.199 0.007 0.083 0.141 N c -1.200 -1.165 1.000 0.404 0.672 0.522 0 0.063 0.136 0.192 0.168 0.016 0.142 0.000 0.063 0.065 0.173 0.851 0.011 . ENSG00000100304.12 Nerve_Tibial 0.0806 0.0706 0.0568 0.0831 0.0005 0.0890 0.1065 0.0920 0.0535 0.0836 0.0750 0.0752 0.0695 0.0012 0.0822 0.0988 0.0787 het 2109.53 164 22 43579049 . T C 2109.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.864;DP=164;Dels=0.00;FS=3.956;HRun=0;HaplotypeScore=5.4257;MQ=59.41;MQ0=0;MQRankSum=-1.374;QD=12.86;ReadPosRankSum=0.580;VQSLOD=4.1593;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,75:164:99:2140,0,2335 22 43606143 43606143 C T exonic SCUBE1 synonymous SNV SCUBE1:NM_173050:exon19:c.G2487A:p.A829A 0.7 0.49 0.76 0.93 0.69 0.7 0.7066 0.4862 0.7630 0.9288 0.7488 0.7081 0.7372 0.6639 0.63 0.48 0.7 0.61 0.56 rs5759217 COSM4156366 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7139 0.4817 0.7695 0.7131 0.9258 0.7482 0.7042 0.7035 0.6624 0.6665 0.4892 0.7261 0.7119 0.9256 0.7534 0.7131 0.7264 het 1169.77 126 22 43606143 . C T 1169.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.627;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.79;MQ0=0;MQRankSum=-0.538;QD=9.28;ReadPosRankSum=1.260;VQSLOD=6.1327;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,52:126:99:1200,0,1884 22 43610106 43610106 C T exonic SCUBE1 synonymous SNV SCUBE1:NM_173050:exon16:c.G2043A:p.S681S 0.068 0.11 0.086 . 0.11 0.032 0.0951 0.1153 0.0676 0.0007 0.0936 0.1179 0.0944 0.0595 0.11 0.11 0.11 0.087 0.13 rs34893532 COSM4156367 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0882 0.1039 0.0641 0.0943 0.0008 0.0934 0.1152 0.1088 0.0497 0.0972 0.1005 0.0875 0.0738 0.0006 0.0871 0.1095 0.0932 het 730.46 43 22 43610106 . C T 730.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.364;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=-0.339;QD=16.99;ReadPosRankSum=-0.214;VQSLOD=6.6181;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,27:43:99:760,0,430 22 43610207 43610207 A G exonic SCUBE1 nonsynonymous SNV SCUBE1:NM_173050:exon16:c.T1942C:p.S648P 0.43 0.38 0.59 0.078 0.68 0.52 0.5931 0.4392 0.5675 0.0759 0.5694 0.6930 0.5862 0.5872 0.61 0.44 0.69 0.45 0.77 rs138993 COSM445091 1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.186 P -0.885 0.014 N 2.7 0.122 T 2.37 0.003 N 0.045 0.025 -1.014 0.256 T 0.000 0.000 T . . . 1.651 0.260 14.13 0.700 0.089 0.075 0.134 N c -0.857 -0.650 0.472 0.207 0.646 0.450 0 3.81 0.429 4.857 0.624 0.137 0.221 1.000 0.715 0.831 0.347 11.924 0.519 Growth factor receptor cysteine-rich domain|Tyrosine-protein kinase ephrin type A/B receptor-like ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000236272.1|ENSG00000100304.12|ENSG00000100304.12 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Thyroid 0.5920 0.4321 0.5665 0.7501 0.0787 0.5643 0.6917 0.6356 0.5887 0.5728 0.4359 0.5788 0.7715 0.0828 0.5750 0.6963 0.6380 het 835.12 81 22 43610207 . A G 835.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.130;DP=81;Dels=0.00;FS=3.160;HRun=1;HaplotypeScore=1.6498;MQ=59.72;MQ0=0;MQRankSum=-2.198;QD=10.31;ReadPosRankSum=1.406;VQSLOD=4.8670;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:49,32:81:99:865,0,1238 22 43623395 43623395 C G exonic SCUBE1 nonsynonymous SNV SCUBE1:NM_173050:exon10:c.G1192C:p.G398R 0.74 0.93 0.65 0.54 0.72 0.75 0.7134 0.9068 0.6686 0.5033 0.6629 0.7081 0.6732 0.7722 0.77 0.9 0.71 0.77 0.57 rs129415 COSM3759243 1(urinary_tract);1(pancreas);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.537 0.069 T 0.0 0.026 B 0.009 0.133 B 0.001 0.390 N 1.000 0.186 P 2.005 0.547 M -2.5 0.892 D 1.78 0.005 N 0.039 0.019 -0.978 0.354 T 0.000 0.000 T . . . 1.106 0.200 11.25 0.698 0.088 0.298 0.237 N c -1.355 -1.368 1.000 0.473 0.581 0.326 0 -7.04 0.014 2.566 0.454 -1.756 0.007 1.000 0.715 0.743 0.320 11.048 0.469 EGF-like calcium-binding domain|EGF-like domain|Growth factor receptor cysteine-rich domain ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12|ENSG00000100304.12 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.7049 0.9099 0.6581 0.6912 0.5140 0.6572 0.7134 0.6879 0.7705 0.7534 0.9118 0.6818 0.6755 0.5229 0.6781 0.7128 0.6984 hom 899.21 29 22 43623395 . C G 899.21 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.39;MQ0=0;QD=31.01;VQSLOD=9.1939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:81.22:932,81,0 22 43976396 43976396 G A exonic EFCAB6 nonsynonymous SNV EFCAB6:NM_198856:exon23:c.C2720T:p.A907V,EFCAB6:NM_022785:exon25:c.C3176T:p.A1059V 0.74 0.78 0.85 0.76 0.74 0.61 0.7424 0.7471 0.8834 0.7721 0.6877 0.7400 0.7086 0.6583 0.74 0.75 0.74 0.73 0.75 rs9614382 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.104 B 0.992 0.079 N 1 0.090 P -1.69 0.004 N 2.39 0.164 T -0.11 0.121 N 0.047 0.028 -1.002 0.294 T 0.000 0.000 T . . . -1.005 0.032 0.015 0.103 0.001 0.002 0.010 N c -1.510 -1.400 0.001 0.078 0.554 0.246 0 2.92 0.329 1.396 0.339 -0.119 0.114 0.002 0.151 0.000 0.016 4.201 0.099 EF-hand domain pair;EF-hand domain|EF-hand domain pair . . 0.7495 0.7542 0.8787 0.8223 0.7777 0.6893 0.7350 0.7546 0.6623 0.7415 0.7565 0.8469 0.8212 0.7803 0.6816 0.7356 0.7352 hom 8387.48 248 22 43976396 . G A 8387.48 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7139;MQ=59.25;MQ0=0;QD=33.82;VQSLOD=8.4490;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:8387,674,0 22 44079680 44079680 G A exonic EFCAB6 nonsynonymous SNV EFCAB6:NM_198856:exon10:c.C742T:p.H248Y,EFCAB6:NM_022785:exon12:c.C1198T:p.H400Y 0.076 0.073 0.13 0.012 0.15 0.04 0.1029 0.0785 0.1188 0.0090 0.1569 0.1246 0.1079 0.0467 0.11 0.082 0.13 0.098 0.12 rs137794 . . . . . . . . . . . . . 1.0 0.025 T 0.13 0.255 B 0.126 0.311 B 0.764 0.066 N 1 0.090 P 1.32 0.331 L 2.37 0.160 T -2.62 0.563 D 0.046 0.026 -0.981 0.347 T 0.000 0.000 T . . . -1.158 0.026 0.008 0.238 0.010 0.050 0.106 N c -1.457 -1.460 0.000 0.029 0.554 0.246 0 -0.573 0.111 1.145 0.310 -1.823 0.006 0.002 0.151 0.000 0.016 3.467 0.071 . . . 0.1071 0.0804 0.1204 0.1346 0.0088 0.1616 0.1242 0.1172 0.0490 0.1147 0.0896 0.0957 0.1733 0.0068 0.1429 0.1326 0.1405 het 2828.95 243 22 44079680 . G A 2828.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.055;DP=243;DS;Dels=0.00;FS=1.559;HRun=0;HaplotypeScore=1.6828;MQ=58.98;MQ0=0;MQRankSum=0.913;QD=11.64;ReadPosRankSum=0.909;VQSLOD=6.6438;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:128,115:243:99:2859,0,3748 22 44112845 44112845 C T exonic EFCAB6 synonymous SNV EFCAB6:NM_198856:exon7:c.G309A:p.S103S,EFCAB6:NM_022785:exon9:c.G765A:p.S255S 0.8 0.82 0.79 0.86 0.74 0.78 0.7804 0.8093 0.8209 0.8798 0.7449 0.7591 0.7744 0.7820 0.78 0.81 0.76 0.73 0.7 rs5764234 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7783 0.8118 0.8239 0.7065 0.8869 0.7421 0.7635 0.7579 0.7744 0.7812 0.8002 0.8254 0.6821 0.8888 0.7652 0.7646 0.7367 het 765.16 72 22 44112845 . C T 765.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.900;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7553;MQ=58.37;MQ0=0;MQRankSum=-1.115;QD=10.63;ReadPosRankSum=-0.830;VQSLOD=5.0844;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,31:72:99:795,0,1023 22 44282276 44282276 A G exonic PNPLA5 nonsynonymous SNV PNPLA5:NM_001177675:exon4:c.T514C:p.W172R,PNPLA5:NM_138814:exon6:c.T856C:p.W286R 0.5 0.24 0.46 0.9 0.37 0.6 0.4446 0.2662 0.4725 0.9258 0.4037 0.3770 0.4316 0.5751 0.34 0.27 0.37 0.48 0.37 rs739231 . . . . . . . . . . . . . 0.55 0.066 T 0.0 0.026 B 0.0 0.013 B 0.399 0.045 N 1 0.090 P -2.22 0.001 N 1.56 0.394 T 1.62 0.006 N 0.012 0.448 -1.013 0.260 T 0.000 0.000 T . . . -1.361 0.020 0.004 0.286 0.015 0.001 0.009 N c -1.731 -1.729 0.557 0.214 0.563 0.310 0 -2.74 0.056 -0.843 0.044 -0.280 0.085 0.000 0.063 0.000 0.016 1.958 0.031 Acyl transferase/acyl hydrolase/lysophospholipase|Patatin/Phospholipase A2-related . . 0.4478 0.2645 0.4692 0.3597 0.9313 0.4001 0.3749 0.4100 0.5783 0.3773 0.2561 0.4463 0.3311 0.9370 0.3948 0.3780 0.4122 het 1509.46 107 22 44282276 . A G 1509.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.450;DP=107;Dels=0.00;FS=13.327;HRun=1;HaplotypeScore=5.9446;MQ=59.43;MQ0=0;MQRankSum=0.441;QD=14.11;ReadPosRankSum=1.501;VQSLOD=3.7487;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,59:107:99:1539,0,1312 22 44282307 44282307 G A exonic PNPLA5 synonymous SNV PNPLA5:NM_001177675:exon4:c.C483T:p.D161D,PNPLA5:NM_138814:exon6:c.C825T:p.D275D 0.5 0.22 0.46 0.9 0.37 0.6 0.4432 0.2487 0.4723 0.9260 0.4048 0.3771 0.4316 0.5748 0.33 0.25 0.37 0.48 0.38 rs739232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4467 0.2485 0.4689 0.3596 0.9314 0.4003 0.3749 0.4088 0.5781 0.3736 0.2434 0.4463 0.3311 0.9367 0.3952 0.3778 0.4138 het 1407.72 106 22 44282307 . G A 1407.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.499;DP=106;Dels=0.00;FS=1.597;HRun=0;HaplotypeScore=0.8667;MQ=59.37;MQ0=0;MQRankSum=0.974;QD=13.28;ReadPosRankSum=-1.979;VQSLOD=6.1280;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,55:106:99:1438,0,1268 22 44286950 44286950 G A exonic PNPLA5 nonsynonymous SNV PNPLA5:NM_138814:exon2:c.C418T:p.L140F 0.24 0.19 0.25 0.49 0.1 0.19 0.1918 0.2092 0.3073 0.5408 0.1960 0.1199 0.1767 0.1944 0.12 0.17 0.099 0.14 0.11 rs2071883 COSM1751912 2(urinary_tract) . . . . . . . . . . . 0.055 0.453 T 0.125 0.253 B 0.085 0.279 B 0.033 0.250 N 0.007 0.588 P 2.62 0.769 M -1.75 0.835 D -2.68 0.603 D 0.068 0.524 -1.000 0.301 T 0.000 0.000 T . . . 2.770 0.394 21.2 0.994 0.612 0.691 0.338 D c -0.406 -0.426 1.000 0.431 0.685 0.552 0 -0.542 0.112 0.895 0.278 -0.925 0.025 1.000 0.715 0.348 0.245 4.334 0.104 Acyl transferase/acyl hydrolase/lysophospholipase;Acyl transferase/acyl hydrolase/lysophospholipase|Patatin/Phospholipase A2-related . . 0.1641 0.1773 0.2243 0.1176 0.5286 0.1336 0.0975 0.1418 0.1673 0.1495 0.1664 0.2029 0.1225 0.5149 0.1343 0.1031 0.1235 het 327.50 25 22 44286950 . G A 327.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.224;DP=25;Dels=0.00;FS=1.935;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.843;QD=13.10;ReadPosRankSum=0.680;VQSLOD=6.3579;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:357,0,326 22 44287062 44287062 A G exonic PNPLA5 synonymous SNV PNPLA5:NM_138814:exon2:c.T306C:p.D102D 0.35 0.2 0.32 0.43 0.39 0.46 0.3925 0.2438 0.3788 0.4237 0.4101 0.3931 0.4183 0.4770 0.34 0.25 0.38 0.38 0.29 rs2071884 COSM445094 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3850 0.2396 0.3731 0.3521 0.4159 0.4022 0.3847 0.3707 0.4571 0.3544 0.2551 0.3553 0.3278 0.4320 0.3897 0.3921 0.4162 het 612.20 43 22 44287062 . A G 612.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.482;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.46;MQ0=0;MQRankSum=0.037;QD=14.24;ReadPosRankSum=-0.404;VQSLOD=6.5986;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,24:43:99:642,0,521 22 44322922 44322922 T G exonic PNPLA3 nonsynonymous SNV PNPLA3:NM_025225:exon2:c.T295G:p.C99G 0.072 0.039 0.16 0.027 0.086 0.086 0.0976 0.0480 0.1957 0.0357 0.1154 0.0923 0.0949 0.1073 0.08 0.046 0.097 0.054 0.09 rs2076213 . . Likely benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Disease RCV000388153.1 MedGen CN239363 . . . . . . 0.329 0.132 T 0.0 0.026 B 0.0 0.013 B 0.251 0.036 N 1 0.090 P 0 0.065 N -1.21 0.787 T 0.27 0.043 N 0.056 0.043 -1.105 0.035 T 0.000 0.002 T . . . -1.199 0.025 0.007 0.404 0.028 0.081 0.140 N c -1.431 -1.385 1.000 0.432 0.672 0.522 0 -2.13 0.067 0.047 0.138 -0.582 0.045 0.000 0.063 0.000 0.016 0.650 0.008 Acyl transferase/acyl hydrolase/lysophospholipase|Patatin/Phospholipase A2-related . . 0.1017 0.0453 0.1877 0.0616 0.0329 0.1206 0.0928 0.0970 0.1063 0.0829 0.0488 0.1770 0.0695 0.0234 0.1259 0.0922 0.1120 het 1298.28 101 22 44322922 . T G 1298.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.836;DP=101;Dels=0.00;FS=0.750;HRun=1;HaplotypeScore=1.9150;MQ=59.63;MQ0=0;MQRankSum=1.631;QD=12.85;ReadPosRankSum=-0.691;VQSLOD=6.3726;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,47:101:99:1328,0,1379 22 44322970 44322970 G T exonic PNPLA3 nonsynonymous SNV PNPLA3:NM_025225:exon2:c.G343T:p.G115C 0.12 0.15 0.11 0.069 0.13 0.14 0.1216 0.1556 0.0969 0.06 0.1057 0.1226 0.1313 0.1518 0.14 0.16 0.13 0.065 0.12 rs2076212 COSM3759246 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Disease RCV000334729.1 MedGen CN239363 . . . . . . 0.533 0.069 T 0.0 0.026 B 0.0 0.013 B 0.149 0.029 N 1 0.090 P -0.31 0.036 N -1.08 0.771 T 3.88 0.001 N 0.077 0.088 -1.099 0.042 T 0.001 0.003 T . . . -0.276 0.070 0.750 0.150 0.004 0.021 0.062 N c -1.604 -1.638 1.000 0.747 0.672 0.522 0 -6.85 0.015 -0.205 0.093 -0.336 0.073 0.000 0.063 0.000 0.016 6.188 0.196 Acyl transferase/acyl hydrolase/lysophospholipase|Patatin/Phospholipase A2-related . . 0.1218 0.1575 0.1046 0.1362 0.0575 0.1106 0.1250 0.1212 0.1508 0.1293 0.1642 0.1122 0.1523 0.0531 0.1150 0.1206 0.1357 het 1257.17 95 22 44322970 . G T 1257.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.693;DP=95;Dels=0.00;FS=5.146;HRun=0;HaplotypeScore=1.9466;MQ=59.10;MQ0=0;MQRankSum=0.927;QD=13.23;ReadPosRankSum=1.269;VQSLOD=5.6883;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,47:95:99:1287,0,1335 22 44342116 44342116 A G exonic PNPLA3 nonsynonymous SNV PNPLA3:NM_025225:exon9:c.A1300G:p.K434E 0.79 0.9 0.79 0.82 0.63 0.77 0.6778 0.8611 0.8057 0.8322 0.6554 0.5962 0.6388 0.7327 0.68 0.85 0.59 0.83 0.57 rs2294918 COSM4156373 1(pancreas);1(thyroid) Likely benign Susceptibility_to_Nonalcoholic_Fatty_Liver_Disease RCV000275317.1 MedGen CN239363 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P 0 0.065 N 1.36 0.344 T 0.19 0.050 N 0.017 0.003 -0.993 0.318 T 0.000 0.000 T . . . -1.810 0.011 0.002 0.396 0.027 0.002 0.009 N c -1.819 -1.909 1.000 0.747 0.696 0.573 0 -5.47 0.024 -1.929 0.016 -1.605 0.009 0.000 0.063 0.000 0.016 1.474 0.023 . ENSG00000100347.10|ENSG00000100347.10 Artery_Tibial|Lung 0.6789 0.8664 0.7951 0.5531 0.8286 0.6615 0.5962 0.6448 0.7345 0.6985 0.8631 0.7596 0.56 0.8306 0.6612 0.6007 0.6334 hom 7297.46 229 22 44342116 . A G 7297.46 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.272;DP=229;DS;Dels=0.00;FS=4.058;HRun=0;HaplotypeScore=8.0361;MQ=59.55;MQ0=0;MQRankSum=-0.215;QD=31.87;ReadPosRankSum=-0.169;VQSLOD=3.3632;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,227:229:99:7258,572,0 22 44368204 44368204 A G exonic SAMM50 synonymous SNV SAMM50:NM_015380:exon5:c.A411G:p.G137G 0.7 0.75 0.57 0.82 0.55 0.74 0.5812 0.7164 0.5499 0.8351 0.5988 0.5037 0.5463 0.6927 0.56 0.7 0.49 0.71 0.5 rs3177036 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5721 0.7163 0.5361 0.4482 0.8314 0.6039 0.5004 0.5272 0.6900 0.5976 0.7151 0.5203 0.4404 0.8309 0.6030 0.5133 0.5499 hom 2692.53 89 22 44368204 . A G 2692.53 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=30.25;VQSLOD=7.9145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2726,208,0 22 44372632 44372632 C T exonic SAMM50 synonymous SNV SAMM50:NM_015380:exon9:c.C780T:p.H260H 0.47 0.61 0.39 0.46 0.33 0.49 0.3631 0.5786 0.3821 0.4887 0.3912 0.2890 0.3646 0.4347 0.37 0.56 0.27 0.43 0.27 rs14315 COSM149311 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3541 0.5764 0.3666 0.2737 0.4867 0.3916 0.2798 0.3335 0.4284 0.3937 0.5735 0.3556 0.2748 0.5111 0.3863 0.2873 0.3227 het 960.25 97 22 44372632 . C T 960.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.442;DP=97;Dels=0.00;FS=1.798;HRun=0;HaplotypeScore=8.8191;MQ=59.03;MQ0=0;MQRankSum=-0.338;QD=9.90;ReadPosRankSum=0.279;VQSLOD=4.2393;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,40:97:99:990,0,1461 22 44379822 44379822 T C exonic SAMM50 synonymous SNV SAMM50:NM_015380:exon12:c.T1017C:p.L339L 0.73 0.8 0.63 0.82 0.6 0.75 0.6294 0.7722 0.5821 0.8345 0.6371 0.5690 0.6013 0.7081 0.63 0.76 0.57 0.76 0.57 rs10452 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6227 0.773 0.5778 0.5114 0.8311 0.6431 0.5685 0.5870 0.7073 0.6507 0.7693 0.5668 0.5132 0.8274 0.6406 0.5760 0.5951 hom 7412.30 250 22 44379822 . T C 7412.30 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8540;MQ=58.70;MQ0=0;QD=29.65;VQSLOD=7.9567;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,249:250:99:7411,587,0 22 44379838 44379838 A G exonic SAMM50 nonsynonymous SNV SAMM50:NM_015380:exon12:c.A1033G:p.I345V 0.77 0.92 0.64 0.82 0.61 0.75 0.6499 0.8736 0.5942 0.8349 0.6521 0.5853 0.6123 0.7132 0.68 0.86 0.58 0.83 0.61 rs8418 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.486 N 1.000 0.200 P -0.66 0.021 N 1.41 0.334 T -0.33 0.125 N 0.069 0.056 -0.964 0.385 T 0.000 0.000 T . . . 0.133 0.106 3.959 0.270 0.013 0.133 0.176 N c -0.838 -0.648 0.068 0.155 0.719 0.830 0 5.04 0.672 3.884 0.556 0.138 0.222 1.000 0.715 0.006 0.095 11.457 0.492 Bacterial surface antigen (D15) ENSG00000100347.10|ENSG00000100347.10 Cells_Transformed_fibroblasts|Lung 0.6422 0.8795 0.5913 0.5270 0.8319 0.6590 0.5853 0.6056 0.7128 0.6904 0.8735 0.5800 0.5298 0.8298 0.6575 0.5906 0.6135 hom 7001.84 242 22 44379838 . A G 7001.84 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8440;MQ=58.93;MQ0=0;QD=28.93;VQSLOD=8.0211;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:7000,578,0 22 44386281 44386281 C T exonic SAMM50 synonymous SNV SAMM50:NM_015380:exon14:c.C1359T:p.G453G 0.22 0.16 0.17 0.36 0.21 0.22 0.2162 0.1652 0.1661 0.3448 0.1917 0.2126 0.1806 0.2426 0.2 0.17 0.22 0.27 0.19 rs7587 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2157 0.1642 0.1737 0.1781 0.3442 0.1969 0.2162 0.1916 0.2434 0.2038 0.1687 0.1647 0.1623 0.3207 0.1918 0.2163 0.2214 het 1992.68 166 22 44386281 . C T 1992.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.978;DP=166;Dels=0.00;FS=2.944;HRun=0;HaplotypeScore=3.1091;MQ=58.79;MQ0=0;MQRankSum=0.914;QD=12.00;ReadPosRankSum=1.211;VQSLOD=5.6727;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,81:166:99:2023,0,1944 22 44489868 44489868 T C exonic PARVB nonsynonymous SNV PARVB:NM_001243385:exon2:c.T62C:p.V21A,PARVB:NM_001243386:exon2:c.T17C:p.V6A,PARVB:NM_013327:exon2:c.T173C:p.V58A,PARVB:NM_001003828:exon3:c.T272C:p.V91A 0.87 0.98 0.88 0.96 0.74 0.77 0.8097 0.9499 0.8964 0.9653 0.7366 0.7642 0.7863 0.7932 0.82 0.95 0.76 0.87 0.64 rs1983609 COSM4004957;COSM4004956 1(urinary_tract) . . . . . . . . . . . 0.803 0.057 T 0.0 0.102 B 0.0 0.104 B 0.526 0.117 N 1 0.090 P -0.2 0.042 N 1.5 0.312 T 0.34 0.039 N 0.009 0.193 -1.036 0.185 T 0.000 0.000 T . . . -1.186 0.025 0.007 0.426 0.031 0.015 0.050 N c -1.728 -1.749 0.867 0.253 0.706 0.609 0 -4.14 0.036 0.266 0.182 -1.063 0.020 0.291 0.250 0.014 0.122 8.981 0.349 Calponin homology domain . . 0.8075 0.9543 0.8868 0.8149 0.9648 0.7291 0.7596 0.7791 0.7935 0.8238 0.9556 0.8652 0.8576 0.9703 0.7423 0.7517 0.7536 hom 4458.74 155 22 44489868 . T C 4458.74 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.235;DP=155;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.96;MQ0=0;MQRankSum=0.101;QD=28.77;ReadPosRankSum=-0.302;VQSLOD=8.8804;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,154:155:99:4425,350,0 22 44489896 44489896 T C exonic PARVB synonymous SNV PARVB:NM_001243385:exon2:c.T90C:p.L30L,PARVB:NM_001243386:exon2:c.T45C:p.L15L,PARVB:NM_013327:exon2:c.T201C:p.L67L,PARVB:NM_001003828:exon3:c.T300C:p.L100L 0.65 0.6 0.65 0.85 0.55 0.6 0.6185 0.5924 0.6963 0.8632 0.5740 0.5859 0.6031 0.6024 0.58 0.58 0.58 0.54 0.51 rs738479 COSM4156375;COSM4156374 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6182 0.5937 0.6885 0.5579 0.8613 0.5711 0.5837 0.5875 0.6008 0.6048 0.5829 0.6663 0.6159 0.8714 0.5980 0.5871 0.6 hom 3507.31 116 22 44489896 . T C 3507.31 Mask AC=2;AF=1.00;AN=2;DP=116;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6316;MQ=59.60;MQ0=0;QD=30.24;VQSLOD=8.9254;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3506,319,0 22 44586522 44586522 C T exonic PARVG synonymous SNV PARVG:NM_001137605:exon7:c.C480T:p.V160V,PARVG:NM_022141:exon7:c.C480T:p.V160V 0.17 0.07 0.18 0.12 0.36 0.18 0.2600 0.0908 0.1427 0.1046 0.2915 0.3399 0.2517 0.1954 0.26 0.1 0.34 0.14 0.38 rs2272942 COSM3759247 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2602 0.0859 0.1536 0.3801 0.1024 0.2916 0.3392 0.2957 0.1979 0.2485 0.0933 0.1746 0.3907 0.1042 0.3113 0.3379 0.3016 hom 4091.12 137 22 44586522 . C T 4091.12 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7329;MQ=59.83;MQ0=0;QD=29.86;VQSLOD=7.6467;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:137:99:4055,331,0 22 44594584 44594584 C G exonic PARVG synonymous SNV PARVG:NM_001137605:exon12:c.C795G:p.P265P,PARVG:NM_022141:exon12:c.C795G:p.P265P 0.2 0.054 0.2 0.2 0.4 0.22 0.3107 0.0910 0.2038 0.1827 0.3443 0.3941 0.3084 0.2409 0.29 0.1 0.39 0.11 0.39 rs139152 COSM3759248 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3112 0.0856 0.2110 0.4057 0.1845 0.3400 0.3937 0.3544 0.2457 0.2808 0.0917 0.2290 0.4007 0.1860 0.3608 0.3792 0.3405 hom 4775.81 162 22 44594584 . C G 4775.81 Mask AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5592;MQ=59.29;MQ0=0;QD=29.48;VQSLOD=8.2759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:4775,376,0 22 44602229 44602229 A C exonic PARVG synonymous SNV PARVG:NM_001137605:exon14:c.A919C:p.R307R,PARVG:NM_022141:exon14:c.A919C:p.R307R 0.73 0.79 0.67 0.65 0.86 0.65 0.7886 0.8008 0.6199 0.6477 0.8739 0.8537 0.8234 0.6739 0.83 0.79 0.85 0.71 0.78 rs139186 COSM3722941 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7822 0.7989 0.6224 0.8798 0.6483 0.8697 0.8497 0.8138 0.6784 0.8224 0.793 0.6483 0.8808 0.6646 0.8656 0.8558 0.8107 hom 3116.67 108 22 44602229 . A C 3116.67 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=58.66;MQ0=0;QD=28.86;VQSLOD=8.4442;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3150,250,0 22 44681612 44681612 A G exonic KIAA1644 synonymous SNV KIAA1644:NM_001099294:exon4:c.T295C:p.L99L 0.47 0.4 0.37 0.33 0.62 0.61 0.5508 0.4148 0.2951 0.3279 0.6051 0.6261 0.5908 0.6004 0.57 0.44 0.63 0.29 0.67 rs135388 COSM3759249 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5443 0.4100 0.3161 0.6961 0.3332 0.6050 0.6258 0.5744 0.5903 0.5336 0.4198 0.3687 0.7020 0.3515 0.6225 0.6026 0.5624 het 4379.08 239 22 44681612 . A G 4379.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.939;DP=239;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.1900;MQ=59.42;MQ0=0;MQRankSum=2.997;QD=18.32;ReadPosRankSum=-0.067;VQSLOD=2.9233;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:119,120:239:99:3698,0,3539 22 45128232 45128232 T C exonic PRR5 synonymous SNV PRR5:NM_001017529:exon6:c.T231C:p.R77R,PRR5:NM_001017530:exon6:c.T231C:p.R77R,PRR5:NM_181333:exon6:c.T516C:p.R172R,PRR5:NM_001017528:exon7:c.T489C:p.R163R,PRR5:NM_015366:exon7:c.T489C:p.R163R,PRR5:NM_001198721:exon8:c.T585C:p.R195R 0.38 0.63 0.3 0.39 0.22 0.26 0.2745 0.5771 0.2962 0.3981 0.1721 0.2246 0.2512 0.2458 0.33 0.56 0.22 0.37 0.15 rs8141631 COSM4156376;COSM4156377;COSM4156378 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2652 0.5753 0.2852 0.2442 0.3959 0.1729 0.2225 0.2573 0.2449 0.3287 0.5715 0.2578 0.2417 0.3762 0.1792 0.2295 0.2275 het 510.64 53 22 45128232 . T C 510.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.563;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7878;MQ=58.85;MQ0=0;MQRankSum=1.117;QD=9.63;ReadPosRankSum=-0.063;VQSLOD=5.7108;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,24:53:99:541,0,754 22 45132704 45132704 T C exonic PRR5 synonymous SNV PRR5:NM_001017529:exon8:c.T459C:p.P153P,PRR5:NM_001017530:exon8:c.T459C:p.P153P,PRR5:NM_181333:exon8:c.T744C:p.P248P,PRR5:NM_001017528:exon9:c.T717C:p.P239P,PRR5:NM_015366:exon9:c.T717C:p.P239P,PRR5:NM_001198721:exon10:c.T813C:p.P271P 0.072 0.084 0.12 0.07 0.031 0.07 0.0509 0.0822 0.1226 0.0629 0.0124 0.0318 0.0386 0.0683 0.045 0.073 0.03 0.033 0.0082 rs6006864 COSM3681463;COSM3681464;COSM3681462 1(haematopoietic_and_lymphoid_tissue);3(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0496 0.0795 0.1111 0.0654 0.0603 0.0127 0.0290 0.0504 0.0562 0.0444 0.0792 0.0979 0.0728 0.0488 0.0158 0.0277 0.0295 het 1270.87 117 22 45132704 . T C 1270.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.228;DP=117;Dels=0.00;FS=1.532;HRun=3;HaplotypeScore=6.1807;MQ=59.28;MQ0=0;MQRankSum=0.263;QD=10.86;ReadPosRankSum=0.462;VQSLOD=4.3036;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,55:117:99:1301,0,1752 22 45132785 45132785 T C exonic PRR5 synonymous SNV PRR5:NM_001017529:exon8:c.T540C:p.G180G,PRR5:NM_001017530:exon8:c.T540C:p.G180G,PRR5:NM_181333:exon8:c.T825C:p.G275G,PRR5:NM_001017528:exon9:c.T798C:p.G266G,PRR5:NM_015366:exon9:c.T798C:p.G266G,PRR5:NM_001198721:exon10:c.T894C:p.G298G 0.072 0.084 0.12 0.07 0.031 0.07 0.0505 0.0818 0.1231 0.0613 0.0139 0.0328 0.0387 0.0588 0.044 0.073 0.029 0.033 0.025 rs6006865 COSM3723221;COSM3723220;COSM3723222 1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0505 0.0801 0.1117 0.0666 0.0592 0.0133 0.0298 0.0508 0.0562 0.0447 0.0796 0.0979 0.0762 0.0470 0.0169 0.0281 0.0306 het 415.77 37 22 45132785 . T C 415.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.445;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6316;MQ=60.00;MQ0=0;MQRankSum=0.812;QD=11.24;ReadPosRankSum=-0.353;VQSLOD=6.0198;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,16:37:99:446,0,577 22 45198009 45198009 A G exonic ARHGAP8;PRR5-ARHGAP8 synonymous SNV ARHGAP8:NM_001017526:exon3:c.A132G:p.P44P,ARHGAP8:NM_001198726:exon3:c.A132G:p.P44P,ARHGAP8:NM_181335:exon3:c.A132G:p.P44P,PRR5-ARHGAP8:NM_181334:exon6:c.A525G:p.P175P 0.64 0.79 0.67 0.56 0.48 0.65 0.5477 0.7544 0.7345 0.5613 0.5236 0.4531 0.5464 0.6710 0.54 0.75 0.44 0.63 0.48 rs2239813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5506 0.7644 0.7122 0.4811 0.5613 0.5229 0.4487 0.5258 0.6700 0.5588 0.7540 0.6623 0.4967 0.5646 0.5298 0.4489 0.5236 hom 4259.57 151 22 45198009 . A G 4259.57 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.337;DP=151;Dels=0.00;FS=3.167;HRun=0;HaplotypeScore=4.8707;MQ=58.56;MQ0=0;MQRankSum=-0.477;QD=28.21;ReadPosRankSum=-0.174;VQSLOD=3.9132;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,149:151:99:4196,313,0 22 45221423 45221423 A T exonic ARHGAP8;PRR5-ARHGAP8 synonymous SNV ARHGAP8:NM_001198726:exon7:c.A546T:p.P182P,ARHGAP8:NM_181335:exon7:c.A546T:p.P182P,ARHGAP8:NM_001017526:exon8:c.A639T:p.P213P,PRR5-ARHGAP8:NM_181334:exon10:c.A939T:p.P313P 0.15 0.19 0.085 0.0099 0.19 0.22 0.1743 0.1986 0.0966 0.0031 0.1816 0.1915 0.2024 0.2309 0.19 0.19 0.2 0.13 0.082 rs3209476 COSM3766720;COSM3766721 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1663 0.1948 0.0941 0.1578 0.0029 0.1711 0.1927 0.1787 0.2272 0.1773 0.1878 0.1050 0.1733 0.0031 0.1680 0.1934 0.2238 het 290.89 33 22 45221423 . A T 290.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.480;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;MQRankSum=0.629;QD=8.81;ReadPosRankSum=-1.277;VQSLOD=5.4800;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,12:33:99:321,0,425 22 45244930 45244930 C T exonic ARHGAP8;PRR5-ARHGAP8 synonymous SNV ARHGAP8:NM_001198726:exon10:c.C867T:p.L289L,ARHGAP8:NM_181335:exon10:c.C867T:p.L289L,ARHGAP8:NM_001017526:exon11:c.C960T:p.L320L,PRR5-ARHGAP8:NM_181334:exon13:c.C1260T:p.L420L 0.37 0.59 0.26 0.31 0.25 0.32 0.2901 0.5489 0.1830 0.3323 0.1925 0.2695 0.2577 0.3045 0.36 0.53 0.27 0.43 0.3 rs2269543 COSM4156379;COSM4156380 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2802 0.5555 0.1909 0.2887 0.3358 0.2011 0.2684 0.2694 0.3074 0.3405 0.5465 0.2208 0.3013 0.3441 0.1862 0.2692 0.2592 het 3068.45 227 22 45244930 . C T 3068.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.609;DP=227;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6709;MQ=59.14;MQ0=0;MQRankSum=1.022;QD=13.52;ReadPosRankSum=-0.314;VQSLOD=5.8922;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,111:227:99:3098,0,3052 22 45255637 45255637 G C exonic ARHGAP8;PRR5-ARHGAP8 nonsynonymous SNV ARHGAP8:NM_181335:exon11:c.G904C:p.G302R,ARHGAP8:NM_001017526:exon12:c.G997C:p.G333R,PRR5-ARHGAP8:NM_181334:exon14:c.G1297C:p.G433R 0.27 0.32 0.13 0.4 0.19 0.24 0.2093 0.3089 0.1426 0.4325 0.1600 0.1764 0.1982 0.2299 0.22 0.3 0.17 0.29 0.12 rs6007344 . . . . . . . . . . . . . 0.682 0.063 T 0.0 0.026 B 0.0 0.040 B 0.943 0.083 N 1 0.090 P -1.18 0.009 N 2.25 0.178 T 2.16 0.007 N 0.437 0.666 -0.912 0.466 T 0.000 0.000 T . . . -1.156 0.026 0.008 0.431 0.032 0.017 0.054 N c -1.755 -1.740 0.984 0.306 0.635 0.413 0 -2.67 0.057 -0.333 0.079 -2.905 0.002 0.000 0.063 0.001 0.043 1.860 0.030 Rho GTPase activation protein|Rho GTPase-activating protein domain . . 0.2045 0.3076 0.1451 0.1443 0.4395 0.1648 0.1786 0.1760 0.2317 0.2242 0.3040 0.1480 0.1656 0.4549 0.1591 0.1764 0.1783 het 983.79 71 22 45255637 . G C 983.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.293;DP=71;Dels=0.00;FS=0.925;HRun=0;HaplotypeScore=0.9995;MQ=57.82;MQ0=0;MQRankSum=-0.745;QD=13.86;ReadPosRankSum=1.300;VQSLOD=4.3051;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,39:71:99:1014,0,842 22 45574142 45574144 ACC - exonic NUP50 nonframeshift deletion NUP50:NM_007172:exon5:c.364_366del:p.T123del,NUP50:NM_153645:exon6:c.280_282del:p.T95del . . . . . . 0.0003 0.0002 0 0 0 0.0005 0 0 0.0016 0.0005 0.0022 . . rs752992874 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0.0002 2.979e-05 0 0 4.488e-05 0.0005 0.0002 0 0.0003 0.0002 0 0 0 0.0003 0.0005 0 het 1873.32 121 22 45574141 . TACC T 1873.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.730;DP=121;FS=0.000;HRun=0;HaplotypeScore=449.6671;MQ=50.79;MQ0=6;MQRankSum=-2.582;QD=14.41;ReadPosRankSum=4.404;set=variant2 GT:AD:DP:GQ:PL 0/1:85,45:121:99:1912,0,4139 22 45683246 45683246 C T exonic UPK3A synonymous SNV UPK3A:NM_006953:exon3:c.C402T:p.V134V 0.55 0.23 0.77 0.54 0.73 0.64 0.6971 0.3193 0.8173 0.5423 0.7258 0.7584 0.7165 0.6681 0.61 0.32 0.76 0.56 0.71 rs2673088 COSM4156382 1(thyroid) Likely benign Renal_adysplasia RCV000298070.1 MedGen:OMIM C1619700:191830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7075 0.3055 0.8058 0.8052 0.5355 0.7346 0.7548 0.7314 0.6693 0.6114 0.3110 0.7783 0.8113 0.5470 0.7209 0.7483 0.7016 hom 1206.94 41 22 45683246 . C T 1206.94 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5638;MQ=57.94;MQ0=0;QD=29.44;VQSLOD=7.2002;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1240,102,0 22 45683304 45683304 G C exonic UPK3A nonsynonymous SNV UPK3A:NM_006953:exon3:c.G460C:p.A154P 0.77 0.82 0.82 0.73 0.74 0.77 0.7788 0.8078 0.8517 0.7329 0.7378 0.7760 0.7801 0.7635 0.79 0.81 0.78 0.77 0.59 rs1057353 COSM4004958 1(urinary_tract);1(thyroid) Likely benign Renal_adysplasia RCV000313780.1 MedGen:OMIM C1619700:191830 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.010 0.300 N 1.000 0.588 P -1.145 0.009 N -0.03 0.631 T 1.25 0.010 N 0.094 0.094 -0.955 0.400 T 0.000 0.000 T . . . 0.445 0.137 6.996 0.153 0.004 0.088 0.145 N c -0.881 -0.662 1.000 0.451 0.554 0.283 0 3.37 0.375 0.651 0.244 -0.528 0.049 0.995 0.385 0.407 0.255 15.703 0.772 . ENSG00000100373.5|ENSG00000100373.5|ENSG00000100373.5|ENSG00000100373.5|ENSG00000100373.5|ENSG00000100376.7 Muscle_Skeletal|Nerve_Tibial|Prostate|Thyroid|Whole_Blood|Whole_Blood 0.7750 0.8080 0.8422 0.8269 0.7236 0.7388 0.7653 0.7800 0.7569 0.7760 0.8250 0.8150 0.8477 0.7210 0.7285 0.7623 0.7541 hom 404.29 12 22 45683304 . G C 404.29 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.69;VQSLOD=13.5231;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:437,36,0 22 45685002 45685002 A G exonic UPK3A synonymous SNV UPK3A:NM_006953:exon4:c.A549G:p.S183S 0.66 0.9 0.57 0.7 0.43 0.61 0.5040 0.8400 0.4870 0.6992 0.4641 0.4173 0.5033 0.5681 0.55 0.83 0.41 0.7 0.41 rs1135360 COSM3759253 1(large_intestine) Likely benign Renal_adysplasia RCV000364782.1 MedGen:OMIM C1619700:191830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4977 0.8485 0.4937 0.4114 0.6966 0.4649 0.4167 0.4781 0.5645 0.5657 0.8452 0.5312 0.39 0.6953 0.4793 0.4204 0.4776 het 1798.25 141 22 45685002 . A G 1798.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.418;DP=141;Dels=0.00;FS=1.361;HRun=1;HaplotypeScore=0.9159;MQ=58.91;MQ0=0;MQRankSum=-0.450;QD=12.75;ReadPosRankSum=-0.800;VQSLOD=6.4012;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,69:141:99:1828,0,1906 22 45691594 45691594 A G exonic UPK3A synonymous SNV UPK3A:NM_001167574:exon4:c.A495G:p.Q165Q,UPK3A:NM_006953:exon6:c.A858G:p.Q286Q 0.63 0.88 0.48 0.65 0.36 0.64 0.4621 0.8151 0.4775 0.6485 0.3355 0.3626 0.4310 0.5835 0.5 0.8 0.35 0.64 0.36 rs1057356 COSM3759254 1(thyroid);2(large_intestine) Likely benign Renal_adysplasia RCV000375664.1 MedGen:OMIM C1619700:191830 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4516 0.8197 0.4808 0.4038 0.6443 0.3359 0.3546 0.4461 0.5800 0.4987 0.8083 0.4916 0.3633 0.6398 0.3517 0.3460 0.4211 het 872.23 64 22 45691594 . A G 872.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.330;DP=64;Dels=0.00;FS=5.514;HRun=1;HaplotypeScore=0.6651;MQ=59.64;MQ0=0;MQRankSum=-0.034;QD=13.63;ReadPosRankSum=-0.626;VQSLOD=5.6765;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,30:64:99:902,0,1005 22 45723807 45723807 G C exonic FAM118A nonsynonymous SNV FAM118A:NM_001349913:exon4:c.G385C:p.V129L,FAM118A:NM_001349914:exon4:c.G388C:p.V130L,FAM118A:NM_017911:exon4:c.G385C:p.V129L,FAM118A:NM_001104595:exon5:c.G385C:p.V129L,FAM118A:NM_001349916:exon6:c.G427C:p.V143L 0.54 0.85 0.4 0.53 0.29 0.47 0.3773 0.7668 0.3696 0.4920 0.3056 0.2953 0.3709 0.4379 0.44 0.75 0.28 0.46 0.31 rs11556482 COSM3759255 1(large_intestine) . . . . . . . . . . . 0.705 0.041 T 0.0 0.026 B 0.0 0.013 B 0.931 0.084 N 1 0.090 P 1.245 0.315 L 1.03 0.421 T 0.41 0.034 N 0.023 0.153 -0.976 0.359 T 0.000 0.000 T . . . -0.929 0.035 0.022 0.310 0.017 0.348 0.249 N c -1.011 -0.933 0.084 0.160 0.707 0.730 0 -0.035 0.132 1.528 0.354 -0.593 0.044 0.971 0.341 0.855 0.357 13.085 0.584 . ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.3644 0.7838 0.3762 0.3440 0.4872 0.2850 0.2812 0.3627 0.4385 0.4303 0.7665 0.4167 0.3212 0.4733 0.2955 0.2703 0.3340 het 958.03 69 22 45723807 . G C 958.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.786;DP=69;Dels=0.00;FS=1.014;HRun=0;HaplotypeScore=0.9832;MQ=58.32;MQ0=0;MQRankSum=0.018;QD=13.88;ReadPosRankSum=-0.978;VQSLOD=4.8558;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,34:69:99:988,0,1002 22 45723842 45723842 G A exonic FAM118A synonymous SNV FAM118A:NM_001349913:exon4:c.G420A:p.R140R,FAM118A:NM_001349914:exon4:c.G423A:p.R141R,FAM118A:NM_017911:exon4:c.G420A:p.R140R,FAM118A:NM_001104595:exon5:c.G420A:p.R140R,FAM118A:NM_001349916:exon6:c.G462A:p.R154R 0.54 0.85 0.4 0.53 0.29 0.47 0.3777 0.7637 0.3716 0.4923 0.3066 0.2955 0.3736 0.4391 0.44 0.75 0.28 0.54 0.31 rs17851057 COSM3759256 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3641 0.7807 0.3772 0.3444 0.4872 0.2841 0.2804 0.3627 0.4391 0.4287 0.7631 0.4205 0.3212 0.4726 0.2954 0.2694 0.3313 het 577.90 42 22 45723842 . G A 577.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.164;DP=42;Dels=0.00;FS=1.302;HRun=0;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;MQRankSum=-0.693;QD=13.76;ReadPosRankSum=-0.541;VQSLOD=3.3156;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,20:42:99:608,0,604 22 45723854 45723854 C G exonic FAM118A synonymous SNV FAM118A:NM_001349913:exon4:c.C432G:p.V144V,FAM118A:NM_001349914:exon4:c.C435G:p.V145V,FAM118A:NM_017911:exon4:c.C432G:p.V144V,FAM118A:NM_001104595:exon5:c.C432G:p.V144V,FAM118A:NM_001349916:exon6:c.C474G:p.V158V 0.31 0.037 0.5 0.3 0.59 0.28 0.4880 0.1152 0.5265 0.3201 0.5575 0.5878 0.4910 0.3464 0.44 0.12 0.6 0.28 0.53 rs9615108 COSM3759257 3(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4577 0.0945 0.4863 0.4802 0.2944 0.5207 0.5576 0.4739 0.3250 0.4351 0.1139 0.4914 0.5134 0.3193 0.5182 0.6077 0.5084 het 435.32 34 22 45723854 . C G 435.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.517;DP=34;Dels=0.00;FS=8.506;HRun=0;HaplotypeScore=0.0000;MQ=56.04;MQ0=0;MQRankSum=1.309;QD=12.80;ReadPosRankSum=0.000;VQSLOD=2.3204;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,17:34:99:465,0,526 22 45728370 45728370 G A exonic FAM118A nonsynonymous SNV FAM118A:NM_001349915:exon5:c.G494A:p.R165H,FAM118A:NM_001349913:exon6:c.G716A:p.R239H,FAM118A:NM_001349914:exon6:c.G719A:p.R240H,FAM118A:NM_017911:exon6:c.G716A:p.R239H,FAM118A:NM_001104595:exon7:c.G716A:p.R239H,FAM118A:NM_001349916:exon8:c.G758A:p.R253H 0.53 0.84 0.39 0.52 0.27 0.46 0.3602 0.7552 0.3614 0.4869 0.2411 0.2789 0.3403 0.4219 0.43 0.74 0.27 0.56 0.28 rs6007594 COSM149314 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(pancreas);5(prostate);2(large_intestine) . . . . . . . . . . . 0.194 0.208 T 0.999 0.764 D 0.934 0.652 D 0.000 0.523 D 0.005 0.426 P . . . 1.58 0.291 T -0.59 0.176 N 0.345 0.406 -1.110 0.030 T 0.000 0.000 T . . . 5.808 0.795 27.1 0.999 0.994 0.848 0.436 D c 0.500 0.506 1.000 0.500 0.707 0.730 0 5.8 0.921 5.950 0.698 1.048 0.713 1.000 0.715 0.287 0.235 12.948 0.576 . ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Vagina|Whole_Blood 0.3512 0.7626 0.3716 0.3403 0.4821 0.2366 0.2727 0.3465 0.4233 0.4106 0.7522 0.4123 0.3179 0.4672 0.2451 0.2529 0.3047 het 1748.56 176 22 45728370 . G A 1748.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.467;DP=176;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1955;MQ=58.76;MQ0=0;MQRankSum=0.044;QD=9.93;ReadPosRankSum=0.251;VQSLOD=4.7558;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:106,70:176:99:1779,0,2951 22 45748339 45748339 A G exonic SMC1B synonymous SNV SMC1B:NM_148674:exon22:c.T3417C:p.A1139A 0.29 0.05 0.47 0.29 0.49 0.27 0.4313 0.1071 0.4933 0.2924 0.4696 0.5067 0.4298 0.3326 0.39 0.11 0.52 0.25 0.48 rs5765275 COSM3759259;COSM3759258 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4382 0.0991 0.4765 0.4653 0.2942 0.4702 0.5155 0.4488 0.3320 0.3840 0.1068 0.4496 0.4735 0.2906 0.4546 0.5300 0.4440 het 965.10 86 22 45748339 . A G 965.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.610;DP=86;Dels=0.00;FS=4.656;HRun=1;HaplotypeScore=1.1567;MQ=60.09;MQ0=0;MQRankSum=0.330;QD=11.22;ReadPosRankSum=-0.760;VQSLOD=5.9403;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,43:86:99:995,0,1192 22 45749983 45749983 G T exonic SMC1B nonsynonymous SNV SMC1B:NM_001291501:exon21:c.C3148A:p.L1050M,SMC1B:NM_148674:exon21:c.C3148A:p.L1050M 0.29 0.048 0.47 0.29 0.49 0.27 0.4289 0.1058 0.4912 0.2923 0.4666 0.5042 0.4267 0.3292 0.39 0.11 0.52 0.25 0.48 rs5764698 COSM3759263;COSM3759262 1(large_intestine) . . . . . . . . . . . 0.15 0.246 T 0.0 0.026 B 0.003 0.080 B 0.392 0.132 N 1.000 0.090 P -0.345 0.033 N -1.24 0.790 T 0.6 0.025 N 0.021 0.007 -0.959 0.395 T 0.000 0.000 T . . . 1.623 0.257 13.98 0.961 0.282 0.024 0.068 N c -0.789 -0.653 0.000 0.035 0.487 0.133 0 2.38 0.283 0.474 0.217 0.117 0.209 0.218 0.243 0.990 0.544 2.741 0.049 RecF/RecN/SMC\x2c N-terminal ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7 Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.4353 0.0954 0.4749 0.4681 0.2865 0.4673 0.5082 0.4419 0.3316 0.3806 0.1053 0.4471 0.4698 0.2904 0.4487 0.5265 0.4396 het 2071.58 186 22 45749983 . G T 2071.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.604;DP=186;Dels=0.00;FS=4.311;HRun=1;HaplotypeScore=5.5685;MQ=59.33;MQ0=0;MQRankSum=0.396;QD=11.14;ReadPosRankSum=0.287;VQSLOD=5.0536;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:104,82:186:99:2102,0,2749 22 45767421 45767421 C T exonic SMC1B nonsynonymous SNV SMC1B:NM_001291501:exon14:c.G2243A:p.C748Y,SMC1B:NM_148674:exon14:c.G2243A:p.C748Y 0.087 0.091 0.091 0.003 0.19 0.059 0.1279 0.0913 0.0794 0.0003 0.1765 0.1687 0.1242 0.0662 0.14 0.086 0.16 0.098 0.066 rs56174639 COSM4156384;COSM4156383 2(thyroid) . . . . . . . . . . . 0.308 0.149 T 0.0 0.067 B 0.001 0.080 B 0.038 0.243 N 1 0.090 P -1.04 0.011 N -1.14 0.779 T -1.11 0.352 N 0.087 0.166 -1.104 0.037 T 0.000 0.001 T . . . 0.420 0.134 6.786 0.518 0.045 0.030 0.077 N c -0.760 -0.614 0.000 0.044 0.554 0.283 0 3.35 0.373 0.682 0.248 0.935 0.490 0.008 0.178 0.999 0.750 6.120 0.192 RecF/RecN/SMC\x2c N-terminal ENSG00000128408.7|ENSG00000128408.7 Esophagus_Mucosa|Thyroid 0.1258 0.0859 0.0823 0.0901 0.0003 0.1757 0.1690 0.1320 0.0661 0.1323 0.0939 0.1148 0.0993 0.0012 0.1704 0.1602 0.1558 het 1595.56 110 22 45767421 . C T 1595.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.893;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9652;MQ=59.62;MQ0=0;MQRankSum=-0.276;QD=14.51;ReadPosRankSum=-0.054;VQSLOD=5.7985;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,59:110:99:1626,0,1477 22 45767455 45767455 A G exonic SMC1B synonymous SNV SMC1B:NM_001291501:exon14:c.T2209C:p.L737L,SMC1B:NM_148674:exon14:c.T2209C:p.L737L 0.71 0.95 0.54 0.71 0.51 0.73 0.5694 0.8959 0.5067 0.7076 0.5302 0.4931 0.5732 0.6699 0.61 0.89 0.48 0.76 0.44 rs136569 COSM3759269;COSM3759268 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5560 0.9027 0.5153 0.5304 0.7024 0.5281 0.4807 0.5424 0.6637 0.6173 0.8972 0.5492 0.5265 0.7096 0.5448 0.4708 0.5571 het 1747.66 111 22 45767455 . A G 1747.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.068;DP=111;Dels=0.00;FS=2.449;HRun=0;HaplotypeScore=3.2280;MQ=58.33;MQ0=0;MQRankSum=1.235;QD=15.74;ReadPosRankSum=1.765;VQSLOD=4.1373;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,63:111:99:1778,0,1172 22 45782903 45782903 T C exonic SMC1B synonymous SNV SMC1B:NM_001291501:exon11:c.A1755G:p.L585L,SMC1B:NM_148674:exon11:c.A1755G:p.L585L 0.57 0.91 0.4 0.53 0.37 0.47 0.4201 0.8385 0.3658 0.5071 0.3533 0.3594 0.4131 0.4370 0.5 0.83 0.36 0.65 0.35 rs6007010 COSM1416790;COSM1416789 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4117 0.8473 0.3814 0.3863 0.5044 0.3474 0.3549 0.4061 0.4380 0.4927 0.8378 0.4391 0.3675 0.5006 0.3516 0.3360 0.3883 het 2109.05 165 22 45782903 . T C 2109.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.803;DP=165;Dels=0.00;FS=1.978;HRun=0;HaplotypeScore=4.2715;MQ=58.58;MQ0=1;MQRankSum=0.025;QD=12.78;ReadPosRankSum=-2.712;VQSLOD=4.1551;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:88,77:165:99:2139,0,2221 22 45789642 45789642 A C exonic SMC1B nonsynonymous SNV SMC1B:NM_001291501:exon9:c.T1417G:p.F473V,SMC1B:NM_148674:exon9:c.T1417G:p.F473V 1. 1. 1. 1. 1. 1. 1.0000 1 0.9999 1 1 1 1 1 . . . 1. 0.97 rs136603 COSM4591935;COSM4591936 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 1978.87 63 22 45789642 . A C 1978.87 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;QD=31.41;VQSLOD=9.3285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:2012,156,0 22 45821887 45821887 G A exonic RIBC2 unknown UNKNOWN 0.71 0.93 0.54 0.69 0.51 0.73 0.5709 0.8755 0.5100 0.7040 0.4971 0.4966 0.5756 0.6795 0.61 0.86 0.48 0.73 0.51 rs1022477 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5616 0.8845 0.5257 0.5585 0.7025 0.4946 0.4884 0.5506 0.6770 0.6068 0.8738 0.5514 0.5436 0.7092 0.5037 0.4726 0.5441 het 983.61 87 22 45821887 . G A 983.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.697;DP=87;Dels=0.00;FS=7.101;HRun=0;HaplotypeScore=3.4308;MQ=58.87;MQ0=0;MQRankSum=0.284;QD=11.31;ReadPosRankSum=-1.431;VQSLOD=4.7706;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:43,44:87:99:1014,0,1132 22 45821956 45821956 C G exonic RIBC2 unknown UNKNOWN 0.56 0.82 0.37 0.52 0.36 0.61 0.4172 0.7594 0.3455 0.5410 0.3777 0.3313 0.4034 0.5481 0.47 0.75 0.32 0.52 0.3 rs1022478 COSM3766722 1(liver) . . . . . . . . . . . . . . 0.199 0.279 B 0.093 0.286 B 0.018 0.275 N 0.870 0.282 P . . . . . . . . . 0.188 0.384 -1.039 0.176 T 0.000 0.000 T . . . 1.183 0.208 11.66 0.921 0.209 0.028 0.074 N c -1.659 -1.765 1.000 0.747 0.615 0.372 0 -8.59 0.008 -2.537 0.010 -0.262 0.088 0.001 0.137 0.992 0.562 10.231 0.422 . ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000100376.7|ENSG00000100376.7 Adipose_Subcutaneous|Artery_Tibial|Brain_Frontal_Cortex_BA9|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Left_Ventricle|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.4057 0.7658 0.3538 0.3387 0.5370 0.3778 0.3265 0.3789 0.5435 0.4654 0.7533 0.3556 0.3467 0.5551 0.3846 0.3188 0.4150 het 617.54 33 22 45821956 . C G 617.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.887;DP=33;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.5784;MQ=59.43;MQ0=0;MQRankSum=0.387;QD=18.71;ReadPosRankSum=1.824;VQSLOD=6.3531;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,20:33:99:648,0,256 22 45826880 45826880 G A exonic RIBC2 unknown UNKNOWN 0.71 0.95 0.54 0.69 0.51 0.73 0.6298 0.8962 0.5839 0.7418 0.5720 0.5642 0.6237 0.6966 0.62 0.88 0.49 0.12 0.24 rs2072770 . . . . . . . . . . . . . . . . 0.002 0.090 B 0.0 0.013 B 0.228 0.160 N 1 0.090 P . . . . . . . . . 0.059 0.408 -1.014 0.256 T 0.000 0.000 T . . . 0.479 0.140 7.270 0.668 0.079 0.002 0.011 N c -1.226 -1.283 0.493 0.209 0.554 0.283 0 0.016 0.134 0.251 0.179 -0.213 0.100 0.000 0.063 0.003 0.074 5.391 0.154 . ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7|ENSG00000128408.7 Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.5667 0.8977 0.5330 0.5563 0.7074 0.4974 0.4951 0.5574 0.6778 0.6100 0.8838 0.5540 0.5367 0.7067 0.5046 0.4733 0.5481 het 212.93 13 22 45826880 . G A 212.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.381;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.000;QD=16.38;ReadPosRankSum=1.092;VQSLOD=11.4505;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,8:13:99:243,0,146 22 45923827 45923827 A G exonic FBLN1 nonsynonymous SNV FBLN1:NM_001996:exon4:c.A422G:p.Q141R,FBLN1:NM_006485:exon4:c.A422G:p.Q141R,FBLN1:NM_006486:exon4:c.A422G:p.Q141R,FBLN1:NM_006487:exon4:c.A422G:p.Q141R 1. 1. 1. 1. 1. 1. 0.9988 0.9993 1 1 0.9988 0.9981 1 0.9999 1. 1. 1. 1. 1. rs136730 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.200 P -2.25 0.001 N 2.03 0.210 T 1.38 0.011 N 0.082 0.390 -0.960 0.392 T 0.000 0.000 T . . . 0.684 0.159 8.721 0.204 0.007 0.125 0.171 N c -0.762 -0.461 1.000 0.747 0.732 0.924 0 5.21 0.719 5.803 0.686 0.076 0.183 1.000 0.715 0.854 0.356 13.666 0.617 Anaphylatoxin/fibulin . . 0.9986 0.9994 0.9999 1 1 0.9975 0.9977 0.9984 0.9999 0.9984 0.9999 1 1 1 0.9969 0.9977 0.9969 hom 2722.61 92 22 45923827 . A G 2722.61 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.05;MQ0=0;QD=29.59;VQSLOD=8.4452;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2756,220,0 22 46644168 46644168 A G exonic CDPF1 nonsynonymous SNV CDPF1:NM_207327:exon2:c.T14C:p.V5A 0.28 0.76 0.17 0.001 0.19 0.082 0.2028 0.6963 0.1143 0.0004 0.1609 0.1939 0.1867 0.1050 0.35 0.69 0.18 0.39 0.19 rs9627281 . . . . . . . . . . . . . 1.0 0.057 T 0.0 0.026 B 0.0 0.013 B 0.656 0.059 N 1 0.090 P -2.3 0.001 N 1.69 0.288 T 0.26 0.070 N 0.016 0.003 -0.936 0.432 T 0.000 0.000 T . . . -1.656 0.014 0.002 0.485 0.040 0.001 0.005 N c -1.495 -1.402 1.000 0.500 0.660 0.495 0 0.371 0.153 0.875 0.275 0.138 0.222 0.001 0.137 0.001 0.043 1.612 0.025 . ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000186951.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000205643.6|ENSG00000186951.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000205643.6 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood 0.1761 0.6988 0.1156 0.1498 0.0005 0.1381 0.1817 0.1751 0.1022 0.3107 0.6936 0.1301 0.1424 0.0012 0.1394 0.1831 0.1918 het 1060.36 85 22 46644168 . A G 1060.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.134;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3003;MQ=59.51;MQ0=0;MQRankSum=0.110;QD=12.47;ReadPosRankSum=-0.356;VQSLOD=4.2258;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:44,41:85:99:1090,0,1123 22 46652737 46652737 G A exonic PKDREJ synonymous SNV PKDREJ:NM_006071:exon1:c.C6483T:p.C2161C 0.24 0.66 0.13 0.001 0.16 0.079 0.1578 0.5871 0.0808 0.0013 0.1242 0.1451 0.1545 0.0885 0.29 0.58 0.15 0.33 0.19 rs6008362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1475 0.5931 0.0914 0.1338 0.0012 0.1210 0.1486 0.1392 0.0907 0.2607 0.5807 0.1110 0.1192 0.0019 0.1271 0.1517 0.1582 het 1878.36 145 22 46652737 . G A 1878.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.192;DP=145;Dels=0.00;FS=3.117;HRun=0;HaplotypeScore=3.6759;MQ=58.94;MQ0=0;MQRankSum=-1.470;QD=12.95;ReadPosRankSum=0.264;VQSLOD=4.4634;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:74,71:145:99:1908,0,1924 22 46652929 46652929 G A exonic PKDREJ synonymous SNV PKDREJ:NM_006071:exon1:c.C6291T:p.S2097S 0.24 0.66 0.13 0.002 0.16 0.089 0.1584 0.5873 0.0805 0.0016 0.1239 0.1452 0.1533 0.0939 0.29 0.58 0.15 0.33 0.18 rs6008365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1479 0.5928 0.0912 0.1338 0.0013 0.1209 0.1484 0.1393 0.0955 0.2607 0.5804 0.1112 0.12 0.0018 0.1269 0.1516 0.1609 het 570.37 39 22 46652929 . G A 570.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.863;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3072;MQ=59.41;MQ0=0;MQRankSum=0.042;QD=14.62;ReadPosRankSum=0.379;VQSLOD=6.1050;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,19:39:99:600,0,431 22 46652959 46652959 A G exonic PKDREJ synonymous SNV PKDREJ:NM_006071:exon1:c.T6261C:p.P2087P 0.37 0.92 0.21 0.052 0.29 0.14 0.2836 0.8436 0.1318 0.0489 0.2888 0.2835 0.2849 0.1643 0.47 0.83 0.29 0.51 0.33 rs4508712 COSM4002205 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2695 0.8524 0.1504 0.2008 0.0489 0.2906 0.2901 0.2516 0.1706 0.4361 0.8422 0.1727 0.1921 0.0569 0.2914 0.3028 0.3004 het 507.79 37 22 46652959 . A G 507.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.744;DP=37;Dels=0.00;FS=1.282;HRun=3;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;MQRankSum=-0.562;QD=13.72;ReadPosRankSum=0.471;VQSLOD=6.2157;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,18:37:99:538,0,465 22 46654323 46654323 G A exonic PKDREJ synonymous SNV PKDREJ:NM_006071:exon1:c.C4897T:p.L1633L 0.24 0.66 0.13 0.001 0.16 0.079 0.1576 0.5886 0.0808 0.0013 0.1241 0.1451 0.1549 0.0886 0.29 0.59 0.15 0.34 0.19 rs6007740 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1476 0.5951 0.0912 0.1338 0.0012 0.1209 0.1485 0.1388 0.0906 0.2612 0.5831 0.1112 0.1167 0.0019 0.1269 0.1514 0.1582 het 1265.16 90 22 46654323 . G A 1265.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.267;DP=90;Dels=0.00;FS=1.720;HRun=1;HaplotypeScore=2.6801;MQ=59.74;MQ0=0;MQRankSum=0.008;QD=14.06;ReadPosRankSum=0.921;VQSLOD=6.4833;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,43:90:99:1295,0,1415 22 46655779 46655779 G C exonic PKDREJ nonsynonymous SNV PKDREJ:NM_006071:exon1:c.C3441G:p.I1147M 0.064 0.08 0.066 0.001 0.12 0.043 0.0808 0.0746 0.0427 0.0001 0.0978 0.1032 0.0980 0.0550 0.096 0.076 0.11 0.043 0.074 rs36125344 . . . . . . . . . . . . . 0.297 0.146 T 0.022 0.174 B 0.002 0.063 B 0.000 0.002 N 1 0.090 P 0.69 0.170 N 1.23 0.369 T -0.23 0.107 N 0.038 0.018 -1.097 0.045 T 0.001 0.003 T . . . -1.767 0.011 0.002 0.171 0.005 0.014 0.047 N c -1.844 -1.995 1.000 0.747 0.583 0.331 0 -8.75 0.007 -3.077 0.007 -0.924 0.025 0.000 0.063 0.000 0.016 2.800 0.050 GPS motif ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5 Artery_Aorta|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0802 0.0761 0.0485 0.0917 0.0002 0.0978 0.1046 0.0850 0.0565 0.0922 0.0796 0.0501 0.09 0.0006 0.0997 0.1096 0.0980 het 4144.65 249 22 46655779 . G C 4144.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=10.091;DP=249;DS;Dels=0.00;FS=1.569;HRun=2;HaplotypeScore=2.5757;MQ=59.41;MQ0=0;MQRankSum=-1.384;QD=16.65;ReadPosRankSum=1.316;VQSLOD=4.7708;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:119,130:249:99:3527,0,2964 22 46655948 46655948 T C exonic PKDREJ nonsynonymous SNV PKDREJ:NM_006071:exon1:c.A3272G:p.N1091S 0.25 0.68 0.13 0.001 0.16 0.079 0.1605 0.6080 0.0818 0.0013 0.1244 0.1461 0.1560 0.0889 0.3 0.6 0.15 0.35 0.19 rs6008384 . . . . . . . . . . . . . 0.783 0.033 T 0.004 0.112 B 0.002 0.063 B 0.564 0.113 N 1 0.090 P -1.13 0.009 N 1.31 0.354 T -0.03 0.075 N 0.038 0.018 -0.993 0.317 T 0.000 0.000 T . . . -3.096 0.001 0.001 0.272 0.013 0.030 0.077 N c -1.961 -1.981 1.000 0.747 0.598 0.340 0 -8.26 0.009 -2.949 0.007 -1.629 0.009 0.000 0.063 0.001 0.043 8.673 0.331 . ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000205643.6|ENSG00000075234.12|ENSG00000186951.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina 0.1491 0.6138 0.0920 0.1350 0.0012 0.1210 0.1489 0.1401 0.0908 0.2658 0.5992 0.1110 0.1192 0.0025 0.1271 0.1513 0.1602 het 1231.37 74 22 46655948 . T C 1231.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.805;DP=74;Dels=0.00;FS=6.029;HRun=0;HaplotypeScore=0.6651;MQ=59.44;MQ0=0;MQRankSum=-0.304;QD=16.64;ReadPosRankSum=-1.588;VQSLOD=5.0069;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,41:74:99:1261,0,928 22 46656246 46656246 T G exonic PKDREJ nonsynonymous SNV PKDREJ:NM_006071:exon1:c.A2974C:p.T992P 0.21 0.56 0.13 0.001 0.16 0.078 0.1505 0.5082 0.0786 0.0013 0.1241 0.1446 0.1501 0.0882 0.25 0.46 0.15 0.24 0.17 rs7291444 COSM4999170 1(pancreas) . . . . . . . . . . . 0.304 0.143 T 0.044 0.203 B 0.016 0.166 B 0.786 0.067 N 1 0.090 P 0.55 0.145 N 1.26 0.363 T -1.57 0.379 N 0.055 0.037 -0.912 0.466 T 0.000 0.000 T . . . -0.210 0.075 1.044 0.762 0.110 0.063 0.122 N c -1.129 -1.171 0.999 0.372 0.549 0.223 0 -1.26 0.088 -1.630 0.021 1.061 0.807 0.000 0.063 0.439 0.261 5.654 0.168 . ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000186951.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina 0.1416 0.5123 0.0872 0.1332 0.0012 0.1210 0.1481 0.1362 0.0902 0.2378 0.5045 0.1050 0.1192 0.0019 0.1272 0.1499 0.1531 het 2914.91 187 22 46656246 . T G 2914.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.074;DP=187;DS;Dels=0.00;FS=16.833;HRun=1;HaplotypeScore=3.5696;MQ=59.67;MQ0=0;MQRankSum=-0.183;QD=15.59;ReadPosRankSum=1.571;VQSLOD=3.1966;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:86,101:187:99:2945,0,2424 22 46656479 46656479 A G exonic PKDREJ nonsynonymous SNV PKDREJ:NM_006071:exon1:c.T2741C:p.L914P 0.25 0.68 0.13 0.001 0.16 0.079 0.1597 0.6064 0.0817 0.0013 0.1241 0.1455 0.1553 0.0887 0.3 0.6 0.15 0.35 0.18 rs6519993 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.015 0.282 N 0.186 0.347 P -2.165 0.001 N 1.52 0.307 T 7.74 0.000 N 0.092 0.091 -0.950 0.410 T 0.000 0.000 T . . . 0.864 0.176 9.855 0.101 0.001 0.022 0.064 N c -0.803 -0.514 1.000 0.747 0.549 0.223 0 5.33 0.756 4.298 0.586 0.138 0.222 1.000 0.715 0.618 0.292 13.324 0.597 . ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000205643.6|ENSG00000075234.12|ENSG00000186951.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina 0.1492 0.6132 0.0920 0.1347 0.0012 0.1211 0.1490 0.1404 0.0908 0.2660 0.6001 0.1110 0.1192 0.0018 0.1269 0.1515 0.1592 het 2647.44 193 22 46656479 . A G 2647.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.708;DP=193;Dels=0.00;FS=2.726;HRun=2;HaplotypeScore=1.8315;MQ=59.34;MQ0=0;MQRankSum=0.319;QD=13.72;ReadPosRankSum=0.184;VQSLOD=6.8070;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:100,93:193:99:2677,0,2992 22 46656511 46656511 A G exonic PKDREJ synonymous SNV PKDREJ:NM_006071:exon1:c.T2709C:p.I903I 0.25 0.68 0.13 0.001 0.16 0.079 0.1598 0.6069 0.0817 0.0013 0.1241 0.1455 0.1553 0.0887 0.3 0.6 0.15 0.35 0.19 rs9627324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1492 0.6134 0.0920 0.1347 0.0012 0.1211 0.1490 0.1404 0.0908 0.2658 0.6002 0.1100 0.1192 0.0018 0.1270 0.1514 0.1585 het 2553.48 164 22 46656511 . A G 2553.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.271;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5747;MQ=59.22;MQ0=0;MQRankSum=1.532;QD=15.57;ReadPosRankSum=0.990;VQSLOD=5.4565;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,89:164:99:2583,0,2056 22 46656607 46656607 G A exonic PKDREJ synonymous SNV PKDREJ:NM_006071:exon1:c.C2613T:p.I871I 0.25 0.68 0.13 0.001 0.16 0.079 0.1597 0.6065 0.0815 0.0013 0.1242 0.1455 0.1556 0.0887 0.3 0.6 0.15 0.35 0.18 rs8143066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1490 0.6129 0.0919 0.1347 0.0012 0.1208 0.1489 0.1401 0.0907 0.2657 0.5995 0.1100 0.1192 0.0019 0.1271 0.1513 0.1599 het 947.90 68 22 46656607 . G A 947.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.178;DP=68;Dels=0.00;FS=0.978;HRun=1;HaplotypeScore=2.5770;MQ=59.39;MQ0=0;MQRankSum=1.674;QD=13.94;ReadPosRankSum=1.993;VQSLOD=5.7282;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,34:68:99:978,0,822 22 46656805 46656805 G A exonic PKDREJ synonymous SNV PKDREJ:NM_006071:exon1:c.C2415T:p.I805I 0.24 0.65 0.13 0.001 0.16 0.079 0.1567 0.5729 0.0803 0.0013 0.1241 0.1456 0.1556 0.0889 0.29 0.57 0.15 0.34 0.19 rs6519994 COSM1416853 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1467 0.5776 0.0906 0.1346 0.0012 0.1208 0.1489 0.1400 0.0907 0.2561 0.5656 0.1065 0.1192 0.0019 0.1266 0.1515 0.1568 het 1062.11 91 22 46656805 . G A 1062.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.963;DP=91;Dels=0.00;FS=7.185;HRun=1;HaplotypeScore=1.6006;MQ=59.49;MQ0=0;MQRankSum=0.463;QD=11.67;ReadPosRankSum=1.638;VQSLOD=4.8424;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,38:91:99:1092,0,1387 22 46657798 46657798 A G exonic PKDREJ synonymous SNV PKDREJ:NM_006071:exon1:c.T1422C:p.D474D 0.24 0.66 0.13 0.001 0.16 0.079 0.1575 0.5803 0.0804 0.0013 0.1242 0.1456 0.1560 0.0888 0.29 0.58 0.15 0.34 0.18 rs6007748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1472 0.5847 0.0909 0.1349 0.0012 0.1210 0.1490 0.1394 0.0908 0.2583 0.5733 0.1067 0.1192 0.0019 0.1269 0.1514 0.1568 het 1764.85 122 22 46657798 . A G 1764.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.536;DP=122;DS;Dels=0.00;FS=0.866;HRun=0;HaplotypeScore=4.1670;MQ=60.00;MQ0=0;MQRankSum=0.725;QD=14.47;ReadPosRankSum=-2.000;VQSLOD=4.6161;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,60:122:99:1795,0,1777 22 46677607 46677607 T C exonic TTC38 nonsynonymous SNV TTC38:NM_017931:exon7:c.T727C:p.F243L 1. 1. 1. 1. 1. 1. 0.9999 0.9989 1 1 1 1 1 1 1. 1. 1. 1. 1. rs130642 . . . . . . . . . . . . . 0.134 0.263 T 0.0 0.026 B 0.0 0.040 B 0.000 0.504 N 1.000 0.090 P -0.345 0.033 N 1.97 0.221 T -0.62 0.183 N 0.014 0.452 -0.945 0.418 T 0.000 0.000 T . . . 2.177 0.323 17.36 0.965 0.293 0.234 0.218 N c -0.946 -0.793 0.997 0.352 0.732 0.924 0 3.65 0.408 1.238 0.321 0.069 0.176 0.660 0.280 0.545 0.279 8.937 0.347 Tetratricopeptide-like helical domain . . 0.9999 0.9988 1 1 1 1 1 1 1 0.9998 0.9993 1 1 1 1 1 1 hom 5328.34 161 22 46677607 . T C 5328.34 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.710;DP=161;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7340;MQ=59.86;MQ0=0;MQRankSum=0.381;QD=33.10;ReadPosRankSum=1.558;VQSLOD=8.8866;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,160:161:99:5328,418,0 22 46682976 46682976 C T exonic TTC38 nonsynonymous SNV TTC38:NM_017931:exon10:c.C841T:p.P281S 0.038 0.003 0.056 0.001 0.11 0.033 0.0859 0.0198 0.0422 0.0001 0.1282 0.1182 0.1047 0.0581 0.073 0.017 0.1 0.022 0.066 rs55653327 COSM3774015 1(kidney) . . . . . . . . . . . 0.322 0.135 T 0.335 0.322 B 0.208 0.355 B 0.001 0.398 N 0.001 0.475 P 2.34 0.674 M 0.88 0.460 T -1.69 0.402 N 0.116 0.265 -0.911 0.467 T 0.007 0.025 T . . . 4.115 0.552 23.8 0.997 0.804 0.960 0.668 D c 0.020 0.135 1.000 0.747 0.732 0.924 0 4.7 0.586 5.457 0.662 0.852 0.362 1.000 0.715 0.976 0.476 16.226 0.820 . ENSG00000205643.6|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5 Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0713 0.0149 0.0405 0.0866 0.0002 0.0907 0.1004 0.0765 0.0512 0.0737 0.0181 0.0419 0.0795 0.0006 0.0979 0.1091 0.0878 het 639.86 47 22 46682976 . C T 639.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.969;DP=47;Dels=0.00;FS=7.226;HRun=2;HaplotypeScore=0.8667;MQ=59.51;MQ0=0;MQRankSum=-1.649;QD=13.61;ReadPosRankSum=-0.734;VQSLOD=4.0951;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,24:47:99:670,0,651 22 46685380 46685380 C T exonic TTC38 synonymous SNV TTC38:NM_017931:exon12:c.C1164T:p.D388D 0.041 0.0083 0.058 0.001 0.12 0.033 0.0756 0.0206 0.0393 0.0004 0.0971 0.1032 0.0933 0.0526 0.075 0.02 0.1 0.022 0.074 rs11705624 COSM3766724 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0740 0.0192 0.0449 0.0888 0.0003 0.0939 0.1029 0.0813 0.0526 0.0759 0.0230 0.0443 0.0828 0.0006 0.0977 0.1105 0.0906 het 731.43 67 22 46685380 . C T 731.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.144;DP=67;Dels=0.00;FS=5.105;HRun=0;HaplotypeScore=1.4450;MQ=60.00;MQ0=0;MQRankSum=0.345;QD=10.92;ReadPosRankSum=-0.884;VQSLOD=5.4115;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:33,34:67:99:761,0,848 22 46704243 46704243 C T exonic GTSE1 synonymous SNV GTSE1:NM_016426:exon4:c.C165T:p.F55F 0.15 0.39 0.095 0.002 0.13 0.042 0.1067 0.3409 0.0587 0.0009 0.0950 0.1065 0.1104 0.0539 0.19 0.34 0.11 0.22 0.082 rs6008598 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1010 0.3451 0.0649 0.0915 0.0009 0.0952 0.1086 0.0985 0.0552 0.1677 0.3359 0.0680 0.0828 0.0012 0.0995 0.1150 0.1094 het 2028.77 171 22 46704243 . C T 2028.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.753;DP=171;Dels=0.00;FS=15.637;HRun=2;HaplotypeScore=4.4565;MQ=58.99;MQ0=1;MQRankSum=2.418;QD=11.86;ReadPosRankSum=1.203;VQSLOD=2.7740;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:92,79:171:99:2059,0,2421 22 46704676 46704676 A G exonic GTSE1 nonsynonymous SNV GTSE1:NM_016426:exon4:c.A598G:p.T200A 0.15 0.39 0.085 0.001 0.12 0.042 0.1041 0.3454 0.0520 0.0001 0.0950 0.1057 0.1039 0.0538 0.18 0.34 0.1 0.22 0.074 rs6008600 COSM3736298;COSM3736297 1(skin);1(large_intestine) . . . . . . . . . . . 0.851 0.027 T 0.0 0.026 B 0.0 0.013 B 0.194 0.033 N 1 0.090 P -1.7 0.004 N 3.21 0.071 T -0.3 0.119 N 0.009 0.003 -0.922 0.453 T 0.000 0.000 T . . . -2.782 0.002 0.001 0.255 0.012 0.001 0.006 N c -2.088 -2.109 1.000 0.448 0.706 0.609 0 -6.73 0.016 -3.150 0.006 -2.271 0.003 0.000 0.063 0.000 0.016 4.077 0.093 . ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5 Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0985 0.3461 0.0594 0.0898 0.0002 0.0951 0.1065 0.0931 0.0551 0.1672 0.3370 0.0637 0.0833 0.0006 0.0995 0.1135 0.1088 het 853.04 77 22 46704676 . A G 853.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.129;DP=77;Dels=0.00;FS=0.856;HRun=0;HaplotypeScore=0.8321;MQ=59.52;MQ0=0;MQRankSum=1.673;QD=11.08;ReadPosRankSum=0.736;VQSLOD=5.6057;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,33:77:99:883,0,1233 22 46709881 46709881 G A exonic GTSE1 nonsynonymous SNV GTSE1:NM_016426:exon6:c.G1022A:p.S341N 0.13 0.32 0.084 0.001 0.12 0.041 0.1001 0.2903 0.0505 0.0001 0.0948 0.1041 0.1007 0.0535 0.17 0.3 0.11 0.2 0.082 rs6008622 . . . . . . . . . . . . . 0.084 0.329 T 0.025 0.179 B 0.032 0.208 B 0.460 0.124 N 1 0.090 P 1.5 0.380 L 2.53 0.140 T -0.19 0.100 N 0.005 0.000 -0.920 0.455 T 0.000 0.000 T . . . -0.218 0.075 1.004 0.782 0.118 0.103 0.157 N c -1.120 -1.172 0.988 0.314 0.707 0.730 0 0.429 0.157 0.216 0.172 -0.274 0.086 0.000 0.063 0.000 0.016 5.940 0.183 . ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000100416.8|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5 Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0952 0.2930 0.0574 0.0893 0.0002 0.0951 0.1061 0.0910 0.0548 0.1524 0.2862 0.0632 0.0828 0.0006 0.0991 0.1131 0.1031 het 1680.31 137 22 46709881 . G A 1680.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.160;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6665;MQ=59.07;MQ0=0;MQRankSum=1.991;QD=12.27;ReadPosRankSum=1.109;VQSLOD=5.6728;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,68:137:99:1710,0,1763 22 46712077 46712077 C T exonic GTSE1 synonymous SNV GTSE1:NM_016426:exon7:c.C1200T:p.V400V 0.041 0.0038 0.058 0.003 0.12 0.033 0.0762 0.0170 0.0395 0.0034 0.0949 0.1046 0.0918 0.0534 0.075 0.019 0.1 0.033 0.066 rs9615947 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0755 0.0157 0.0451 0.0893 0.0024 0.0951 0.1052 0.0810 0.0533 0.0764 0.0199 0.0453 0.0828 0.0025 0.0991 0.1126 0.0916 het 1118.70 74 22 46712077 . C T 1118.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.285;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=59.38;MQ0=0;MQRankSum=0.890;QD=15.12;ReadPosRankSum=1.487;VQSLOD=6.2101;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,39:74:99:1149,0,838 22 46719100 46719100 C G exonic GTSE1 nonsynonymous SNV GTSE1:NM_016426:exon8:c.C1446G:p.D482E 0.11 0.28 0.069 0.001 0.12 0.033 0.0987 0.2581 0.0497 0.0001 0.0956 0.1069 0.0980 0.0523 0.16 0.26 0.11 0.17 0.082 rs6008684 COSM4156389;COSM4156390 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.156 0.241 T 0.007 0.255 B 0.028 0.227 B 0.254 0.037 N 1 0.090 P 1.65 0.424 L 3.34 0.061 T -0.66 0.191 N 0.051 0.032 -0.943 0.422 T 0.000 0.000 T . . . -1.147 0.027 0.008 0.601 0.062 0.031 0.079 N c -1.080 -1.253 1.0 0.983 0.706 0.609 0 -4.36 0.034 -0.318 0.080 -0.597 0.044 0.000 0.063 0.000 0.016 3.185 0.062 . ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5 Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.0948 0.2609 0.0574 0.1010 0.0002 0.0961 0.1085 0.0944 0.0539 0.1465 0.2616 0.0632 0.09 0.0006 0.1002 0.1148 0.1020 het 2775.81 228 22 46719100 . C G 2775.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.305;DP=228;Dels=0.00;FS=3.730;HRun=0;HaplotypeScore=4.7576;MQ=59.20;MQ0=0;MQRankSum=-0.298;QD=12.17;ReadPosRankSum=-1.175;VQSLOD=4.8025;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:114,114:228:99:2806,0,3114 22 46722400 46722400 T C exonic GTSE1 nonsynonymous SNV GTSE1:NM_016426:exon9:c.T1573C:p.W525R 0.97 0.99 0.94 1. 0.92 0.99 0.9436 0.9848 0.9587 0.9999 0.9382 0.9174 0.9492 0.9852 0.94 0.98 0.92 0.98 0.93 rs140054 COSM3766726;COSM3766725 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.996 0.080 N 1 0.090 P -1.585 0.004 N 3.58 0.046 T 3.83 0.001 N 0.024 0.058 -0.974 0.364 T 0.000 0.000 T . . . -2.131 0.006 0.001 0.308 0.017 0.009 0.036 N c -2.097 -2.042 0.979 0.299 0.719 0.830 0 -3.82 0.040 -0.336 0.078 -1.621 0.009 0.000 0.063 0.000 0.016 2.371 0.040 . . . 0.9447 0.9867 0.9585 0.9007 0.9999 0.9398 0.9206 0.9278 0.9856 0.9522 0.9870 0.9499 0.8808 1 0.9395 0.9309 0.9593 hom 2004.34 67 22 46722400 . T C 2004.34 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3670;MQ=59.31;MQ0=0;QD=29.92;VQSLOD=9.0201;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,66:67:99:2037,177,0 22 46722531 46722531 C T exonic GTSE1 synonymous SNV GTSE1:NM_016426:exon9:c.C1704T:p.P568P 0.046 0.029 0.056 0.001 0.12 0.033 0.0768 0.0319 0.0406 0.0002 0.0962 0.1039 0.0917 0.0527 0.082 0.034 0.11 0.033 0.082 rs9615949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0770 0.0308 0.0468 0.0897 0.0002 0.0949 0.1056 0.0832 0.0538 0.0805 0.0336 0.0477 0.0867 0.0006 0.0993 0.1130 0.0918 het 582.35 62 22 46722531 . C T 582.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.318;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9968;MQ=59.40;MQ0=0;MQRankSum=0.464;QD=9.39;ReadPosRankSum=-1.548;VQSLOD=6.1706;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:36,26:62:99:612,0,1006 22 46760481 46760481 C G exonic CELSR1 nonsynonymous SNV CELSR1:NM_014246:exon33:c.G8707C:p.E2903Q 0.24 0.55 0.18 0.005 0.25 0.1 0.2226 0.5347 0.1097 0.0031 0.2519 0.2422 0.2235 0.1388 0.34 0.52 0.24 0.21 0.25 rs9615351 COSM445134 1(upper_aerodigestive_tract) . . . . . . . . . . . 0.236 0.179 T 0.682 0.395 P 0.273 0.383 B 0.320 0.143 U 1 0.090 P 2.015 0.552 M -0.49 0.704 T -1.26 0.318 N 0.031 0.012 -0.941 0.424 T 0.000 0.000 T . . . -0.241 0.073 0.896 0.903 0.190 0.081 0.139 N c -0.889 -1.076 0.999 0.389 0.696 0.567 0 -1.76 0.075 0.406 0.206 0.015 0.141 0.000 0.063 0.001 0.043 2.361 0.040 . ENSG00000130943.5 Pancreas 0.2134 0.5273 0.1215 0.1804 0.0032 0.2512 0.2469 0.1931 0.1441 0.3123 0.5206 0.1623 0.1656 0.0025 0.2390 0.2590 0.2209 het 753.11 61 22 46760481 . C G 753.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.581;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.08;MQ0=0;MQRankSum=0.862;QD=12.35;ReadPosRankSum=0.788;VQSLOD=6.3574;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,27:61:99:783,0,870 22 46780521 46780521 T C exonic CELSR1 nonsynonymous SNV CELSR1:NM_014246:exon20:c.A6802G:p.T2268A 0.24 0.65 0.13 0.014 0.16 0.082 0.1671 0.5907 0.0881 0.0160 0.1093 0.1566 0.1555 0.0989 0.3 0.58 0.15 0.34 0.2 rs6007897 COSM4156391 8(soft_tissue);1(thyroid) . . . . . . . . . . . 0.791 0.032 T 0.001 0.102 B 0.006 0.139 B 0.102 0.198 N 1 0.090 P -0.205 0.041 N -0.23 0.667 T -0.18 0.098 N 0.04 0.020 -0.934 0.436 T 0.000 0.000 T . . . -1.983 0.008 0.001 0.211 0.008 0.008 0.032 N c -1.626 -1.578 0.996 0.342 0.646 0.450 0 0.587 0.165 0.117 0.153 -0.332 0.074 0.000 0.063 0.001 0.043 6.933 0.235 GAIN domain\x2c N-terminal ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg 0.1556 0.5946 0.0934 0.1662 0.0138 0.1103 0.1604 0.1477 0.0982 0.2693 0.5853 0.1172 0.1656 0.0167 0.1171 0.1666 0.1589 het 869.39 70 22 46780521 . T C 869.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.955;DP=70;Dels=0.00;FS=3.658;HRun=0;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;MQRankSum=1.135;QD=12.42;ReadPosRankSum=1.195;VQSLOD=6.1907;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,36:70:99:899,0,835 22 46782382 46782382 C T exonic CELSR1 nonsynonymous SNV CELSR1:NM_014246:exon19:c.G6656A:p.R2219H 0.023 0.0053 0.029 0.001 0.063 0.026 0.0675 0.0190 0.0396 0.0004 0.0825 0.0963 0.0668 0.0348 0.046 0.013 0.064 0.043 0.066 rs34267201 . . . . . . . . . . . . . 1.0 0.010 T 0.004 0.112 B 0.002 0.063 B 0.234 0.159 N 1 0.090 N -0.95 0.013 N 3.08 0.085 T 3.12 0.001 N 0.08 0.072 -0.988 0.332 T 0.001 0.003 T . . . -0.458 0.058 0.278 0.901 0.188 0.029 0.076 N c -1.961 -1.968 1.000 0.747 0.657 0.484 0 -8.24 0.009 -0.376 0.075 -1.816 0.006 0.005 0.169 0.003 0.074 18.870 0.922 GAIN domain\x2c N-terminal ENSG00000075275.12 Lung 0.0474 0.0124 0.0258 0.0545 6.376e-05 0.0404 0.0724 0.0507 0.0282 0.0450 0.0127 0.0394 0.0563 0 0.0424 0.0687 0.0542 het 234.58 19 22 46782382 . C T 234.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.702;DP=19;Dels=0.00;FS=2.003;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.041;QD=12.35;ReadPosRankSum=-0.619;VQSLOD=5.7512;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,11:19:99:265,0,196 22 46787694 46787694 A G exonic CELSR1 nonsynonymous SNV CELSR1:NM_014246:exon15:c.T5984C:p.L1995P 0.28 0.74 0.14 0.013 0.16 0.13 0.1857 0.6780 0.0986 0.0119 0.1236 0.1604 0.1696 0.1407 0.31 0.65 0.14 0.34 0.16 rs6008794 . . . . . . . . . . . . . 0.912 0.024 T 0.0 0.026 B 0.001 0.040 B 0.019 0.273 N 0.283 0.336 P -0.895 0.014 N -0.33 0.683 T 1.89 0.005 N 0.053 0.035 -0.949 0.411 T 0.000 0.000 T . . . 0.927 0.183 10.24 0.150 0.004 0.141 0.180 N c -0.913 -0.736 1.000 0.418 0.696 0.567 0 3.4 0.379 2.896 0.481 0.138 0.222 0.997 0.399 0.659 0.300 7.201 0.249 . ENSG00000075234.12|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5 Adrenal_Gland|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid 0.1637 0.6743 0.0966 0.1722 0.0100 0.1093 0.1577 0.1527 0.1339 0.2909 0.6655 0.1172 0.1722 0.0136 0.1179 0.1645 0.1619 het 89.67 14 22 46787694 . A G 89.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DP=14;Dels=0.00;FS=2.688;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.636;QD=6.41;ReadPosRankSum=0.919;VQSLOD=4.9324;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,4:14:99:120,0,273 22 46787697 46787697 A G exonic CELSR1 nonsynonymous SNV CELSR1:NM_014246:exon15:c.T5981C:p.L1994P 0.2 0.47 0.12 0.001 0.16 0.13 0.1608 0.4325 0.0861 0.0005 0.1227 0.1592 0.1595 0.1405 0.22 0.39 0.14 0.23 0.12 rs6008795 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.000 0.513 P -2.045 0.002 N -0.48 0.703 T 8.59 0.000 N 0.06 0.044 -0.946 0.417 T 0.000 0.000 T . . . 0.492 0.141 7.371 0.088 0.001 0.025 0.070 N c -1.007 -0.765 1.000 0.747 0.696 0.567 0 3.5 0.390 5.402 0.659 0.138 0.222 1.000 0.715 0.799 0.336 10.520 0.439 . ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5|ENSG00000130943.5 Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg 0.1447 0.4226 0.0827 0.1689 0.0004 0.1091 0.1566 0.1413 0.1331 0.2195 0.4194 0.1041 0.1722 0 0.1179 0.1635 0.1436 het 51.10 14 22 46787697 . A G 51.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.071;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.485;QD=3.65;ReadPosRankSum=0.919;VQSLOD=7.9890;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,4:14:81.09:81,0,313 22 46794475 46794475 T C exonic CELSR1 synonymous SNV CELSR1:NM_014246:exon11:c.A5472G:p.G1824G 0.02 0.0053 0.029 . 0.049 0.022 0.0365 0.0122 0.0210 0.0001 0.0314 0.0501 0.0389 0.0288 0.035 0.011 0.048 0.033 0.066 rs45604542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0366 0.0101 0.0228 0.0488 5.802e-05 0.0290 0.0527 0.0429 0.0274 0.0341 0.0099 0.0298 0.0497 0 0.0322 0.0517 0.0422 het 1161.05 125 22 46794475 . T C 1161.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DP=125;Dels=0.00;FS=1.494;HRun=2;HaplotypeScore=4.8576;MQ=59.35;MQ0=0;MQRankSum=1.045;QD=9.29;ReadPosRankSum=-0.464;VQSLOD=5.1199;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,49:125:99:1191,0,1956 22 46805772 46805772 C T exonic CELSR1 nonsynonymous SNV CELSR1:NM_014246:exon8:c.G4939A:p.A1647T 0.0096 0.0015 0.013 . 0.035 0.002 0.0241 0.0072 0.0148 0.0001 0.0240 0.0354 0.0256 0.0084 0.026 0.0089 0.034 0.011 . rs11704506 COSM3766727 1(liver) . . . . . . . . . . . 0.188 0.213 T 0.109 0.246 B 0.011 0.145 B 0.027 0.258 U 1 0.090 N 0.38 0.122 N -1.16 0.781 T -0.99 0.262 N 0.049 0.030 -1.000 0.299 T 0.076 0.305 T . . . 2.085 0.311 16.76 0.984 0.408 0.166 0.193 N c -0.859 -0.853 0.789 0.240 0.696 0.567 0 0.781 0.176 0.051 0.139 0.071 0.179 0.004 0.165 0.068 0.175 5.663 0.168 Concanavalin A-like lectin/glucanase domain|Growth factor receptor cysteine-rich domain . . 0.0234 0.0074 0.0143 0.0254 5.801e-05 0.0224 0.0359 0.0256 0.0086 0.0226 0.0061 0.0263 0.0199 0 0.0226 0.0350 0.0163 het 2336.01 162 22 46805772 . C T 2336.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.293;DP=162;DS;Dels=0.00;FS=5.971;HRun=0;HaplotypeScore=1.9452;MQ=58.59;MQ0=0;MQRankSum=0.710;QD=14.42;ReadPosRankSum=1.215;VQSLOD=4.7663;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:75,87:162:99:2366,0,1828 22 46860063 46860063 C T exonic CELSR1 nonsynonymous SNV CELSR1:NM_014246:exon2:c.G3724A:p.V1242I 0.052 0.18 0.013 . 0.005 0.0041 0.0179 0.1429 0.0074 0 0.0043 0.0082 0.0078 0.0012 0.05 0.13 0.0066 0.065 . rs6008842 . . . . . . . . . . . . . 0.838 0.028 T 0.356 0.320 B 0.049 0.237 B 0.020 0.271 N 0.988 0.245 P 0.32 0.103 N -0.51 0.706 T -0.44 0.146 N 0.017 0.121 -1.095 0.048 T 0.000 0.002 T . . . 1.228 0.213 11.89 0.955 0.266 0.723 0.351 D c -0.417 -0.307 0.999 0.382 0.696 0.567 0 1.14 0.197 1.273 0.325 0.024 0.147 0.994 0.380 0.980 0.490 5.814 0.176 . . . 0.0144 0.1416 0.0075 0.0043 0 0.0049 0.0080 0.0086 0.0014 0.0455 0.1465 0.0107 0.0066 0 0.0057 0.0061 0.0092 het 1127.44 94 22 46860063 . C T 1127.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.639;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=0.099;QD=11.99;ReadPosRankSum=-0.282;VQSLOD=6.9187;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,41:94:99:1157,0,1288 22 46860088 46860088 G C exonic CELSR1 synonymous SNV CELSR1:NM_014246:exon2:c.C3699G:p.A1233A 0.19 0.49 0.069 0.19 0.031 0.053 0.0760 0.4224 0.0509 0.1916 0.0318 0.0244 0.0437 0.0422 0.15 0.41 0.024 0.23 0.049 rs3747251 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0671 0.4269 0.0527 0.0224 0.1866 0.0312 0.0227 0.0469 0.0420 0.1470 0.4243 0.0537 0.0166 0.1796 0.0378 0.0222 0.0531 het 904.35 84 22 46860088 . G C 904.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.554;DP=84;Dels=0.00;FS=0.886;HRun=1;HaplotypeScore=8.1103;MQ=59.48;MQ0=0;MQRankSum=0.890;QD=10.77;ReadPosRankSum=1.462;VQSLOD=3.5507;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,35:84:99:934,0,1220 22 46929692 46929692 A G exonic CELSR1 nonsynonymous SNV CELSR1:NM_014246:exon1:c.T3376C:p.C1126R 0.95 0.95 0.96 0.98 0.95 0.92 0.9406 0.9391 0.9770 0.9861 0.9601 0.9320 0.9404 0.9188 0.93 0.93 0.93 0.92 0.85 rs4823561 COSM3766728 1(bone);1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.003 0.364 N 0.045 0.379 P -1.625 0.004 N 1.3 0.356 T 5.93 0.000 N 0.048 0.472 -0.971 0.370 T 0.000 0.000 T . . . -0.562 0.052 0.154 0.632 0.070 0.441 0.270 N c -1.043 -0.768 1.000 0.747 0.713 0.817 0 4.53 0.548 2.078 0.410 0.138 0.222 1.000 0.715 0.961 0.442 6.436 0.209 Cadherin|Cadherin-like ENSG00000234869.1 Esophagus_Mucosa 0.9422 0.9386 0.9732 0.9130 0.9865 0.9576 0.9322 0.9369 0.9205 0.9418 0.9389 0.9714 0.9040 0.9864 0.9602 0.9336 0.9388 hom 5981.61 200 22 46929692 . A G 5981.61 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.2780;MQ=59.32;MQ0=0;QD=29.91;VQSLOD=4.0637;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:5980,532,0 22 46931077 46931077 G C exonic CELSR1 nonsynonymous SNV CELSR1:NM_014246:exon1:c.C1991G:p.S664W 0.89 0.73 0.94 0.98 0.95 0.92 0.9222 0.7263 0.9671 0.9852 0.9602 0.9329 0.9360 0.9175 0.87 0.73 0.94 0.81 0.62 rs4823850 COSM3759278 1(thyroid);2(large_intestine) . . . . . . . . . . . 0.015 0.524 D 0.999 0.764 D 0.935 0.653 D 0.278 0.150 U 0.984 0.248 P 1.75 0.456 L 3.86 0.037 T -3.77 0.714 D 0.137 0.389 -0.997 0.306 T 0.000 0.000 T . . . 2.986 0.419 22.2 0.988 0.454 0.203 0.208 N c 0.191 0.055 0.943 0.275 0.610 0.352 0 3.47 0.387 0.637 0.242 0.998 0.613 0.001 0.137 0.949 0.424 2.244 0.037 Cadherin|Cadherin-like ENSG00000234869.1|ENSG00000234869.1 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.9279 0.7249 0.9627 0.9257 0.9859 0.9578 0.9327 0.9303 0.9186 0.8808 0.7248 0.9535 0.9172 0.9864 0.9605 0.9331 0.9328 hom 1171.17 37 22 46931077 . G C 1171.17 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8561;MQ=60.00;MQ0=0;QD=31.65;VQSLOD=8.3955;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:96.29:1204,96,0 22 46931793 46931793 G C exonic CELSR1 synonymous SNV CELSR1:NM_014246:exon1:c.C1275G:p.L425L 0.94 0.91 0.96 0.97 0.95 0.92 0.9360 0.8932 0.9731 0.9824 0.9532 0.9324 0.9353 0.9181 0.92 0.89 0.93 0.88 0.7 rs1009154 COSM3759279 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9385 0.8928 0.9700 0.9228 0.9832 0.9519 0.9324 0.9333 0.9192 0.9256 0.8881 0.9642 0.9106 0.9827 0.9539 0.9322 0.9347 hom 2263.46 66 22 46931793 . G C 2263.46 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9152;MQ=59.72;MQ0=0;QD=34.29;VQSLOD=9.0051;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:66:99:2296,178,0 22 46931838 46931838 G A exonic CELSR1 synonymous SNV CELSR1:NM_014246:exon1:c.C1230T:p.S410S 0.89 0.72 0.94 0.97 0.95 0.92 0.9209 0.7175 0.9671 0.9821 0.9538 0.9327 0.9311 0.9179 0.86 0.72 0.93 0.8 0.8 rs1009155 COSM4156395 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9264 0.7130 0.9631 0.9223 0.9830 0.9525 0.9325 0.9302 0.9188 0.8762 0.7144 0.9582 0.9106 0.9827 0.9539 0.9315 0.9318 hom 1947.79 65 22 46931838 . G A 1947.79 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.97;VQSLOD=13.9318;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1981,165,0 22 47058992 47058992 T C exonic GRAMD4 synonymous SNV GRAMD4:NM_015124:exon6:c.T522C:p.F174F 1. 1. 1. 1. 1. 1. 0.9994 1 1 0.9925 0.9998 1.0000 0.9989 0.9994 1. 1. 1. 0.99 0.97 rs2542040 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9994 1 1 1 0.9921 1.0000 1.0000 0.9995 0.9997 0.9997 1 1 1 0.9945 1 1 1 hom 3898.23 132 22 47058992 . T C 3898.23 Mask AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7685;MQ=59.83;MQ0=0;QD=29.53;VQSLOD=8.3125;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,132:132:99:3897,319,0 22 47070642 47070642 G A exonic GRAMD4 synonymous SNV GRAMD4:NM_015124:exon16:c.G1473A:p.T491T 0.0032 . 0.0014 . 0.008 0.0072 0.0065 0.0018 0.0005 0.0005 0.0026 0.0082 0.0022 0.0123 0.0061 0.0007 0.0088 . . rs144224839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0064 0.0014 0.0008 0.0001 0.0005 0.0032 0.0093 0.0042 0.0122 0.0051 0.0021 0.0012 0 0 0.0031 0.0082 0.0041 het 1778.28 146 22 47070642 . G A 1778.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.413;DP=146;Dels=0.00;FS=2.533;HRun=0;HaplotypeScore=1.8662;MQ=59.27;MQ0=0;MQRankSum=-0.079;QD=12.18;ReadPosRankSum=-1.153;VQSLOD=4.8241;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:81,65:146:99:1808,0,2207 22 47103744 47103744 G A exonic CERK synonymous SNV CERK:NM_022766:exon6:c.C711T:p.P237P 0.0026 . 0.0029 0.001 0.0089 0.001 0.0093 0.0020 0.0081 0.0012 0.0077 0.0129 0.0124 0.0048 0.0094 0.003 0.013 . . rs61748564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0092 0.0014 0.0074 0.0202 0.0016 0.0106 0.0120 0.0113 0.0043 0.0095 0.0019 0.0048 0.0166 0 0.0117 0.0141 0.0153 het 2468.92 194 22 47103744 . G A 2468.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.087;DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6030;MQ=59.76;MQ0=0;MQRankSum=0.652;QD=12.73;ReadPosRankSum=0.471;VQSLOD=3.5675;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:102,92:194:99:2499,0,2578 22 47116905 47116905 G A exonic CERK synonymous SNV CERK:NM_022766:exon2:c.C150T:p.C50C 0.09 0.17 0.066 0.04 0.096 0.048 0.0902 0.1522 0.0473 0.0383 0.0638 0.1048 0.0749 0.0607 0.13 0.15 0.11 0.13 0.082 rs12166204 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0858 0.1536 0.0482 0.0922 0.0414 0.0649 0.1045 0.0923 0.0619 0.1052 0.1536 0.0453 0.1133 0.0475 0.0648 0.0974 0.0825 het 2179.60 207 22 47116905 . G A 2179.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.755;DP=207;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3293;MQ=59.48;MQ0=0;MQRankSum=-0.433;QD=10.53;ReadPosRankSum=-0.736;VQSLOD=4.6398;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,87:207:99:2210,0,3375 22 47189678 47189678 C G exonic TBC1D22A nonsynonymous SNV TBC1D22A:NM_001284303:exon2:c.C343G:p.P115A,TBC1D22A:NM_001284305:exon3:c.C259G:p.P87A,TBC1D22A:NM_014346:exon3:c.C400G:p.P134A,TBC1D22A:NM_001284304:exon4:c.C310G:p.P104A 0.005 0.0008 0.0043 . 0.02 0.001 0.0162 0.0049 0.0036 0 0.0891 0.0201 0.0171 0.0070 0.0059 0.0012 0.0083 . . rs112995262 COSM1318756 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.828 0.050 T 0.0 0.026 B 0.001 0.063 B 0.001 0.390 N 1 0.090 N 0.865 0.215 L 1.98 0.227 T -0.94 0.251 N 0.081 0.080 -1.048 0.150 T 0.031 0.134 T . . . -1.736 0.012 0.002 0.248 0.011 0.059 0.117 N c -1.256 -1.296 0.998 0.357 0.706 0.609 0 -0.469 0.115 -0.346 0.077 0.035 0.151 0.000 0.063 0.002 0.062 3.877 0.085 . . . 0.0122 0.0022 0.0023 0.0076 0.0001 0.0503 0.0135 0.0090 0.0055 0.0148 0.0029 0.0024 0.0066 0 0.0442 0.0175 0.0132 het 205.28 16 22 47189678 . C G 205.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.208;DP=16;Dels=0.00;FS=2.447;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;MQRankSum=0.578;QD=12.83;ReadPosRankSum=-0.683;VQSLOD=5.1513;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,8:16:99:235,0,259 22 50277835 50277835 T C exonic ZBED4 synonymous SNV ZBED4:NM_014838:exon2:c.T525C:p.S175S 0.94 1. 0.94 0.95 0.89 0.89 0.9088 0.9828 0.9458 0.9657 0.8881 0.8946 0.9314 0.8693 0.92 0.98 0.9 0.96 0.87 rs910796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9083 0.9853 0.9387 0.9001 0.9667 0.8887 0.8948 0.9086 0.8696 0.9178 0.9789 0.9200 0.9139 0.9747 0.8826 0.8866 0.8816 hom 3143.34 99 22 50277835 . T C 3143.34 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6208;MQ=59.03;MQ0=0;QD=31.75;VQSLOD=9.6819;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:3176,268,0 22 50277883 50277883 A G exonic ZBED4 synonymous SNV ZBED4:NM_014838:exon2:c.A573G:p.P191P 0.94 1. 0.94 0.95 0.89 0.89 0.9095 0.9828 0.9459 0.9657 0.8881 0.8946 0.9313 0.8716 0.92 0.98 0.9 0.94 0.86 rs910797 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9087 0.9855 0.9379 0.9007 0.9666 0.8886 0.8947 0.9072 0.8722 0.9177 0.9787 0.9200 0.9139 0.9753 0.8825 0.8864 0.8819 hom 3775.24 122 22 50277883 . A G 3775.24 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.43;MQ0=0;QD=30.94;VQSLOD=8.9544;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:3774,316,0 22 50278438 50278438 A G exonic ZBED4 synonymous SNV ZBED4:NM_014838:exon2:c.A1128G:p.P376P 0.93 0.99 0.93 0.95 0.89 0.89 0.9092 0.9808 0.9458 0.9668 0.8883 0.8956 0.9313 0.8694 0.92 0.98 0.9 0.96 0.88 rs910798 COSM4156405 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9087 0.9834 0.9384 0.8998 0.9672 0.8888 0.8957 0.9087 0.8697 0.9175 0.9769 0.9200 0.9139 0.9747 0.8828 0.8871 0.8827 hom 4073.06 128 22 50278438 . A G 4073.06 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.450;DP=128;Dels=0.00;FS=3.445;HRun=1;HaplotypeScore=2.8284;MQ=59.82;MQ0=0;MQRankSum=1.705;QD=31.82;ReadPosRankSum=-1.241;VQSLOD=4.3164;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,127:128:99:4039,313,0 22 50278568 50278568 A G exonic ZBED4 nonsynonymous SNV ZBED4:NM_014838:exon2:c.A1258G:p.I420V 0.62 0.18 0.82 0.83 0.8 0.65 0.7499 0.2780 0.8677 0.8659 0.8426 0.8038 0.7910 0.6375 0.63 0.29 0.8 0.56 0.76 rs910799 COSM4156406 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.807 0.093 N 1 0.090 P -0.095 0.047 N 0.98 0.421 T 0.07 0.061 N 0.006 0.000 -0.932 0.438 T 0.000 0.000 T . . . -2.809 0.002 0.001 0.243 0.011 0.043 0.097 N c -1.417 -1.385 0.737 0.231 0.732 0.924 0 0.478 0.159 1.396 0.339 -0.831 0.030 0.001 0.137 0.000 0.016 2.017 0.033 . ENSG00000260613.1|ENSG00000260613.1|ENSG00000100426.6|ENSG00000260613.1|ENSG00000100426.6|ENSG00000184164.10|ENSG00000184164.10|ENSG00000260613.1|ENSG00000260613.1|ENSG00000182858.9|ENSG00000182858.9|ENSG00000184164.10|ENSG00000184164.10|ENSG00000100426.6|ENSG00000184164.10 Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Testis|Whole_Blood|Whole_Blood 0.7616 0.2629 0.8543 0.7445 0.8707 0.8446 0.8041 0.7846 0.6374 0.6591 0.2753 0.8150 0.7682 0.8699 0.8344 0.8008 0.7688 hom 4285.52 140 22 50278568 . A G 4285.52 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.43;MQ0=0;QD=30.61;VQSLOD=9.5833;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4285,358,0 22 50278642 50278642 C T exonic ZBED4 synonymous SNV ZBED4:NM_014838:exon2:c.C1332T:p.G444G 0.6 0.17 0.82 0.82 0.79 0.59 0.7318 0.2682 0.8639 0.8647 0.8328 0.7923 0.7797 0.5726 0.62 0.29 0.79 0.56 0.71 rs910800 COSM4156407 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7465 0.2561 0.8508 0.6984 0.8694 0.8346 0.7967 0.7726 0.5726 0.6510 0.2687 0.8110 0.7185 0.8702 0.8262 0.7919 0.7515 hom 4293.55 143 22 50278642 . C T 4293.55 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3725;MQ=59.08;MQ0=0;QD=30.02;VQSLOD=8.2848;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:143:99:4269,346,0 22 50280136 50280136 T C exonic ZBED4 synonymous SNV ZBED4:NM_014838:exon2:c.T2826C:p.A942A 0.59 0.17 0.82 0.83 0.79 0.54 0.7386 0.2682 0.8655 0.8639 0.8334 0.7949 0.7852 0.5442 0.62 0.29 0.79 0.54 0.71 rs5770755 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7445 0.2569 0.8512 0.7018 0.8697 0.8335 0.7976 0.7722 0.5457 0.6503 0.2682 0.8115 0.7185 0.8707 0.8258 0.7914 0.7485 hom 2548.73 104 22 50280136 . T C 2548.73 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6195;MQ=59.24;MQ0=0;QD=24.51;VQSLOD=5.9863;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:2582,228,0 22 50356693 50356693 T C exonic PIM3 nonsynonymous SNV PIM3:NM_001001852:exon6:c.T899C:p.V300A 0.72 0.76 0.82 0.78 0.77 0.51 0.7280 0.7760 0.8240 0.7793 0.6931 0.7476 0.6995 0.5445 0.75 0.76 0.75 0.71 0.64 rs4077129 COSM445150 1(thyroid) . . . . . . . . . . . 0.74 0.037 T 0.003 0.102 B 0.001 0.040 B 0.810 0.068 N 1 0.090 P 0 0.065 N 2.12 0.197 T 0.3 0.041 N 0.015 0.002 -0.983 0.344 T 0.000 0.000 T . . . -1.874 0.010 0.002 0.344 0.021 0.062 0.120 N c -1.615 -1.590 1.000 0.747 0.628 0.401 0 -1.31 0.087 0.858 0.273 -0.851 0.029 0.000 0.063 0.000 0.016 4.607 0.117 Protein kinase-like domain . . 0.7299 0.7690 0.8192 0.7938 0.7712 0.6885 0.7455 0.7467 0.5415 0.7564 0.7647 0.8234 0.8013 0.7763 0.7050 0.7576 0.7418 hom 981.20 33 22 50356693 . T C 981.20 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.73;VQSLOD=13.7122;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:33:81.24:1014,81,0 22 50435480 50435480 A G exonic IL17REL nonsynonymous SNV IL17REL:NM_001001694:exon14:c.T998C:p.L333P 0.61 0.65 0.48 0.55 0.52 0.79 0.6274 0.6469 0.6296 0.5965 0.6557 0.5828 0.6287 0.7895 0.54 0.61 0.5 0.62 0.31 rs5771069 . . . . . . . Ulcerative colitis 1.17 . 20228798 rs5771069 4E-8 0.162 0.235 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 1.67 0.273 T 1.04 0.013 N 0.021 0.005 -0.949 0.413 T 0.000 0.000 T . . . -0.652 0.047 0.093 0.619 0.066 0.000 0.004 N c -1.619 -1.702 0.930 0.269 0.554 0.283 0 -4.33 0.034 -4.825 0.002 -1.608 0.009 0.000 0.063 0.000 0.016 1.356 0.020 . ENSG00000198355.4 Whole_Blood 0.5643 0.6136 0.5449 0.5801 0.5628 0.5806 0.5069 0.5535 0.7693 0.5469 0.6163 0.5348 0.6167 0.5692 0.5688 0.4985 0.5420 het 124.41 10 22 50435480 . A G 124.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.268;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4167;MQ=57.66;MQ0=0;MQRankSum=-1.098;QD=12.44;ReadPosRankSum=0.470;VQSLOD=4.6273;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,5:10:99:154,0,164 22 50439194 50439194 C T exonic IL17REL nonsynonymous SNV IL17REL:NM_001001694:exon5:c.G208A:p.G70R 0.27 0.14 0.3 0.33 0.41 0.19 0.3475 0.1916 0.1934 0.3345 0.3650 0.4209 0.3551 0.2378 0.34 0.18 0.42 0.22 0.3 rs9617090 COSM3759283 2(large_intestine) . . . . . . . . . . . 0.533 0.069 T 0.0 0.026 B 0.0 0.013 B 0.927 0.075 U 1 0.090 P -0.69 0.019 N 2.59 0.133 T -0.41 0.140 N 0.028 0.009 -0.905 0.475 T 0.000 0.000 T . . . -0.218 0.075 1.004 0.617 0.066 0.036 0.087 N c -1.422 -1.416 0.754 0.234 0.598 0.340 0 -0.699 0.107 -0.558 0.060 -0.100 0.116 0.000 0.063 0.004 0.083 3.721 0.079 Interleukin-17 receptor C/E\x2c N-terminal ENSG00000198355.4 Whole_Blood 0.3324 0.1710 0.2193 0.3526 0.3256 0.3598 0.4201 0.3556 0.2027 0.3458 0.1784 0.2782 0.3411 0.3346 0.3741 0.4394 0.3824 het 331.03 32 22 50439194 . C T 331.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.084;DP=32;Dels=0.00;FS=8.139;HRun=0;HaplotypeScore=1.7608;MQ=58.69;MQ0=0;MQRankSum=1.052;QD=10.34;ReadPosRankSum=0.695;VQSLOD=4.5542;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,14:32:99:361,0,476 22 50468907 50468907 C T exonic TTLL8 nonsynonymous SNV TTLL8:NM_001350317:exon13:c.G2203A:p.G735S 0.34 0.44 0.41 0.21 0.34 0.3 0.3335 0.4495 0.4135 0.1955 0.2730 0.3304 0.3278 0.3189 . . . 0.098 . rs738333 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.002 N 1 0.090 P -1.15 0.009 N 3.72 0.040 T 0.69 0.022 N 0.014 0.181 -0.952 0.407 T 0.000 0.000 T . . . -1.672 0.013 0.002 0.833 0.141 0.000 0.003 N c -2.011 -1.971 1.000 0.747 0.520 0.210 0 -0.575 0.111 -0.793 0.047 -2.155 0.004 0.000 0.063 0.000 0.016 0.688 0.008 . . . 0.3333 0.4580 0.4095 0.3935 0.1907 0.2570 0.3264 0.3574 0.3214 0.3402 0.4429 0.3962 0.3907 0.1840 0.2483 0.3161 0.3193 het 296.23 28 22 50468907 . C T 296.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.186;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9976;MQ=56.95;MQ0=0;MQRankSum=1.466;QD=10.58;ReadPosRankSum=-1.312;VQSLOD=3.8509;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,15:28:99:326,0,355 22 50468933 50468933 G T exonic TTLL8 nonsynonymous SNV TTLL8:NM_001350317:exon13:c.C2177A:p.A726E 0.34 0.43 0.41 0.21 0.34 0.3 0.3414 0.4551 0.4181 0.1982 0.2879 0.3325 0.3408 0.3549 0.35 0.42 0.32 0.17 . rs79298 COSM5486822;COSM5486821;COSM5486823 1(large_intestine) . . . . . . . . . . . 0.182 0.229 T 0.031 0.188 B 0.005 0.104 B 0.168 0.031 N 1 0.090 P 1.39 0.351 L 3.58 0.046 T -0.96 0.255 N 0.104 0.311 -0.911 0.467 T 0.000 0.000 T . . . 0.995 0.189 10.64 0.817 0.133 0.001 0.008 N c -1.766 -1.867 1.000 0.747 0.649 0.455 0 -7.71 0.011 -1.436 0.025 -0.893 0.027 0.000 0.063 0.000 0.016 4.632 0.118 . . . 0.3322 0.4498 0.4076 0.3940 0.1908 0.2582 0.3248 0.3588 0.3280 0.3372 0.4370 0.3926 0.3907 0.1836 0.2476 0.3141 0.3122 het 290.55 21 22 50468933 . G T 290.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.462;DP=21;Dels=0.00;FS=1.719;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.462;QD=13.84;ReadPosRankSum=0.249;VQSLOD=5.1179;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,12:21:99:321,0,213 22 50470516 50470516 C T exonic TTLL8 nonsynonymous SNV TTLL8:NM_001350317:exon12:c.G1354A:p.A452T 0.22 0.26 0.32 0.18 0.2 0.17 0.1940 0.2622 0.3364 0.1666 0.1521 0.1721 0.1593 0.1734 0.19 0.23 0.17 0.17 . rs11101958 COSM4419961;COSM4419959;COSM4419960 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.023 0.481 D 0.931 0.499 P 0.403 0.428 B 0.000 0.629 D 0.617 0.308 P 1.825 0.480 L 3.38 0.058 T -0.82 0.225 N 0.317 0.551 -0.915 0.463 T 0.000 0.000 T . . . 4.598 0.616 24.4 0.994 0.608 0.853 0.441 D c -0.135 -0.166 0.022 0.134 0.403 0.052 0 2.9 0.327 2.494 0.447 0.140 0.223 1.000 0.715 0.608 0.290 11.032 0.468 . . . 0.1962 0.2632 0.3302 0.1505 0.1654 0.1470 0.1715 0.2015 0.1704 0.1945 0.2568 0.3150 0.1722 0.1561 0.1554 0.1669 0.1704 het 872.12 78 22 50470516 . C T 872.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.051;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.87;MQ0=0;MQRankSum=0.701;QD=11.18;ReadPosRankSum=-0.015;VQSLOD=6.8836;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,35:78:99:902,0,991 22 50480108 50480108 C T exonic TTLL8 nonsynonymous SNV TTLL8:NM_001350317:exon9:c.G880A:p.E294K 0.4 0.45 0.29 0.39 0.46 0.38 0.4476 0.4445 0.2428 0.3816 0.5428 0.4944 0.4375 0.3953 0.46 0.43 0.48 0.46 . rs9628315 COSM4156416;COSM4156415;COSM4156414 1(bone);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.645 0.052 T 0.005 0.119 B 0.006 0.112 B 0.392 0.132 N 1 0.090 P 0.38 0.122 N 3.71 0.471 T -0.87 0.236 N 0.115 0.496 -0.964 0.385 T 0.000 0.000 T . . . -0.414 0.061 0.358 0.667 0.079 0.028 0.075 N c -1.421 -1.421 0.010 0.120 0.447 0.083 0 -3.47 0.044 -0.314 0.081 0.887 0.390 0.000 0.063 0.012 0.117 7.486 0.264 . . . 0.4315 0.4329 0.2476 0.3706 0.3803 0.5501 0.4899 0.4140 0.3855 0.4775 0.4403 0.2734 0.3926 0.3833 0.5536 0.5050 0.4724 hom 1787.93 59 22 50480108 . C T 1787.93 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=30.30;VQSLOD=8.8692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1821,141,0 22 50488547 50488547 G A exonic TTLL8 nonsynonymous SNV TTLL8:NM_001350317:exon4:c.C289T:p.R97W 0.016 0.0008 0.011 0.003 0.043 0.027 0.0383 0.0071 0.0116 0.0017 0.0360 0.0536 0.0224 0.0337 0.032 0.0075 0.044 0.011 . rs117334902 COSM1327179;COSM1327180 1(ovary) . . . . . . . . . . . 0.037 0.473 D 0.431 0.338 B 0.109 0.298 B 0.004 0.010 N 1 0.090 N 0.895 0.225 L 1.93 0.229 T -0.45 0.148 N 0.151 0.370 -1.040 0.172 T 0.011 0.043 T . . . 2.620 0.376 20.3 0.988 0.468 0.029 0.077 N c -0.917 -0.973 0.001 0.079 0.497 0.185 0 1.56 0.223 0.152 0.160 -2.160 0.004 0.000 0.063 0.000 0.016 4.768 0.124 . ENSG00000205593.7 Adipose_Visceral_Omentum 0.0338 0.0061 0.0123 0.0268 0.0010 0.0333 0.0497 0.0356 0.0338 0.0341 0.0086 0.0143 0.0364 0.0006 0.0385 0.0525 0.0368 het 363.75 19 22 50488547 . G A 363.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.694;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.139;QD=19.14;ReadPosRankSum=-1.065;VQSLOD=12.5304;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,14:19:77.01:394,0,77 22 50528916 50528916 C T exonic MOV10L1 synonymous SNV MOV10L1:NM_001164105:exon1:c.C12T:p.L4L 0.16 0.095 0.31 0.19 0.14 0.15 0.2109 0.1480 0.4353 0.2597 0.1576 0.1877 0.1870 0.1777 0.13 0.11 0.15 0.16 . rs9617018 COSM5426245 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1743 0.1165 0.3400 0.1994 0.2117 0.1214 0.1421 0.1772 0.1457 0.1433 0.1160 0.2978 0.19 0.2191 0.1197 0.1471 0.1391 het 391.22 23 22 50528916 . C T 391.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.367;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-0.501;QD=17.01;ReadPosRankSum=0.033;VQSLOD=7.2960;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,16:23:99:421,0,170 22 50530501 50530501 A T exonic MOV10L1 nonsynonymous SNV MOV10L1:NM_001164104:exon2:c.A169T:p.M57L,MOV10L1:NM_001164105:exon2:c.A109T:p.M37L,MOV10L1:NM_018995:exon2:c.A169T:p.M57L 0.25 0.13 0.38 0.26 0.24 0.33 0.2635 0.1610 0.4190 0.2790 0.1970 0.2428 0.2412 0.3227 0.21 0.16 0.24 0.22 0.16 rs9617066 COSM3927775;COSM149320 1(stomach);2(haematopoietic_and_lymphoid_tissue);1(skin);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.178 0.172 N 1 0.090 P -2.215 0.001 N -1.6 0.838 D 0.54 0.031 N 0.048 0.072 -1.057 0.125 T 0.000 0.000 T . . . -0.363 0.064 0.474 0.612 0.065 0.008 0.033 N c -1.485 -1.342 0.004 0.103 0.554 0.246 0 -0.971 0.097 -1.186 0.032 0.152 0.238 0.000 0.063 0.739 0.319 4.875 0.129 . ENSG00000073146.11|ENSG00000073146.11|ENSG00000073146.11|ENSG00000073169.9|ENSG00000073146.11|ENSG00000100427.11|ENSG00000182858.9|ENSG00000073146.11 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2665 0.1642 0.4073 0.2492 0.2763 0.2020 0.2360 0.2748 0.3196 0.2124 0.1651 0.3876 0.2333 0.2661 0.1975 0.2267 0.2235 het 4248.18 234 22 50530501 . A T 4248.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.967;DP=234;DS;Dels=0.00;FS=3.268;HRun=1;HaplotypeScore=7.9648;MQ=59.61;MQ0=0;MQRankSum=-0.720;QD=18.15;ReadPosRankSum=-0.345;VQSLOD=2.9468;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:105,129:234:99:3642,0,2659 22 50546666 50546666 C T exonic MOV10L1 nonsynonymous SNV MOV10L1:NM_001164104:exon4:c.C544T:p.R182C,MOV10L1:NM_001164105:exon4:c.C484T:p.R162C,MOV10L1:NM_018995:exon4:c.C544T:p.R182C 0.25 0.12 0.38 0.25 0.23 0.33 0.2855 0.1729 0.4486 0.3002 0.2169 0.2651 0.2506 0.3422 0.21 0.15 0.24 0.22 0.098 rs3810971 COSM5426243;COSM5426244 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.96 0.686 D 0.000 0.843 D 0.203 0.588 P 2.78 0.814 M 0.91 0.449 T -5.39 0.851 D 0.212 0.543 -1.018 0.244 T 0.000 0.000 T . . . 7.082 0.941 33 0.999 0.992 0.857 0.446 D c 0.571 0.508 0.228 0.184 0.554 0.283 0 4.2 0.486 2.702 0.465 0.935 0.490 1.000 0.715 0.862 0.360 10.401 0.432 . ENSG00000073146.11|ENSG00000073146.11|ENSG00000073146.11|ENSG00000073169.9|ENSG00000073146.11|ENSG00000100427.11|ENSG00000182858.9|ENSG00000073146.11 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2661 0.1577 0.4088 0.2497 0.2741 0.2016 0.2360 0.2763 0.3190 0.2114 0.1599 0.3897 0.2351 0.2667 0.1979 0.2274 0.2240 het 331.37 30 22 50546666 . C T 331.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.386;DP=30;Dels=0.00;FS=4.499;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.502;QD=11.05;ReadPosRankSum=0.670;VQSLOD=6.0277;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,13:30:99:361,0,442 22 50547247 50547247 A G exonic MOV10L1 synonymous SNV MOV10L1:NM_001164104:exon5:c.A717G:p.A239A,MOV10L1:NM_001164105:exon5:c.A657G:p.A219A,MOV10L1:NM_018995:exon5:c.A717G:p.A239A 1. 1. 1. 1. 0.99 1. 0.9931 0.9977 0.9971 0.9997 0.9977 0.9894 0.9923 0.9973 0.99 1. 0.99 0.99 0.99 rs138217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9930 0.9982 0.9968 0.9960 0.9997 0.9976 0.9878 0.9914 0.9975 0.9935 0.9983 0.9940 0.9901 1 0.9989 0.9890 0.9898 hom 4136.50 120 22 50547247 . A G 4136.50 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2283;MQ=58.96;MQ0=0;QD=34.47;VQSLOD=5.6129;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,118:120:99:4078,334,0 22 50555619 50555619 C T exonic MOV10L1 synonymous SNV MOV10L1:NM_001164104:exon9:c.C1293T:p.L431L,MOV10L1:NM_001164105:exon9:c.C1233T:p.L411L,MOV10L1:NM_018995:exon9:c.C1293T:p.L431L 0.93 0.95 0.94 0.91 0.9 0.94 0.9228 0.9444 0.9532 0.8929 0.9350 0.9134 0.8965 0.9380 0.93 0.94 0.92 0.91 0.82 rs138222 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9214 0.9425 0.9505 0.8802 0.8922 0.9294 0.9125 0.9124 0.9376 0.9231 0.9394 0.9427 0.8874 0.8896 0.9390 0.9136 0.9151 hom 4162.36 142 22 50555619 . C T 4162.36 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8136;MQ=58.69;MQ0=0;QD=29.31;VQSLOD=7.5913;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4162,316,0 22 50555635 50555635 C T exonic MOV10L1 synonymous SNV MOV10L1:NM_001164104:exon9:c.C1309T:p.L437L,MOV10L1:NM_001164105:exon9:c.C1249T:p.L417L,MOV10L1:NM_018995:exon9:c.C1309T:p.L437L 0.14 0.089 0.2 0.15 0.14 0.15 0.1493 0.1081 0.2110 0.1715 0.1137 0.1474 0.1366 0.1431 0.13 0.1 0.14 0.15 0.074 rs882753 COSM4002220;COSM4002219 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1507 0.1099 0.2085 0.1992 0.1705 0.1194 0.1400 0.1572 0.1415 0.1380 0.1120 0.2029 0.1921 0.1850 0.1199 0.1476 0.1360 het 1323.45 130 22 50555635 . C T 1323.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.132;DP=130;Dels=0.00;FS=5.406;HRun=1;HaplotypeScore=3.6957;MQ=58.91;MQ0=0;MQRankSum=0.617;QD=10.18;ReadPosRankSum=0.867;VQSLOD=5.1506;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:130:99:1353,0,1906 22 50555686 50555686 A C exonic MOV10L1 nonsynonymous SNV MOV10L1:NM_001164104:exon9:c.A1360C:p.I454L,MOV10L1:NM_001164105:exon9:c.A1300C:p.I434L,MOV10L1:NM_018995:exon9:c.A1360C:p.I454L 0.15 0.021 0.12 0.24 0.18 0.21 0.1575 0.0377 0.0881 0.2255 0.1880 0.1673 0.1718 0.1932 0.12 0.04 0.16 0.098 0.16 rs760749 COSM4156420;COSM4156419 1(haematopoietic_and_lymphoid_tissue);2(pancreas);1(skin);1(thyroid) . . . . . . . . . . . 0.368 0.124 T 0.472 0.347 P 0.082 0.276 B 0.000 0.629 D 1.000 0.588 P 0.6 0.156 N -1.7 0.846 D -0.67 0.193 N 0.176 0.406 -0.953 0.404 T 0.000 0.001 T . . . -0.034 0.090 2.274 0.932 0.222 0.478 0.278 N c -0.686 -0.612 1.000 0.747 0.730 0.875 0 5.76 0.907 0.576 0.233 1.199 0.960 0.120 0.230 0.091 0.185 10.326 0.428 . ENSG00000073169.9|ENSG00000273137.1|ENSG00000100427.11|ENSG00000100427.11 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.1569 0.0365 0.0938 0.1845 0.2284 0.1854 0.1640 0.1600 0.1902 0.1276 0.0405 0.0990 0.1987 0.2226 0.1784 0.1547 0.1561 het 1094.46 76 22 50555686 . A C 1094.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.216;DP=76;Dels=0.00;FS=10.808;HRun=0;HaplotypeScore=2.7198;MQ=59.70;MQ0=0;MQRankSum=-0.800;QD=14.40;ReadPosRankSum=0.895;VQSLOD=4.3284;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,38:76:99:1124,0,1006 22 50558946 50558946 A G exonic MOV10L1 synonymous SNV MOV10L1:NM_001164104:exon10:c.A1470G:p.Q490Q,MOV10L1:NM_001164105:exon10:c.A1410G:p.Q470Q,MOV10L1:NM_018995:exon10:c.A1470G:p.Q490Q 0.025 0.003 0.039 . 0.07 0.022 0.0471 0.0115 0.0241 0.0009 0.0345 0.0693 0.0607 0.0245 0.05 0.013 0.069 0.033 0.025 rs71316583 COSM3759286;COSM3759285 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0474 0.0101 0.0263 0.1658 0.0002 0.0349 0.0636 0.0622 0.0245 0.0415 0.0110 0.0359 0.1623 0.0006 0.0289 0.0642 0.0469 het 901.26 89 22 50558946 . A G 901.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.572;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59.74;MQ0=0;MQRankSum=0.183;QD=10.13;ReadPosRankSum=-0.234;VQSLOD=6.5242;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,33:89:99:931,0,1588 22 50572473 50572473 G A exonic MOV10L1 nonsynonymous SNV MOV10L1:NM_001164104:exon14:c.G1948A:p.V650I,MOV10L1:NM_001164105:exon14:c.G1888A:p.V630I,MOV10L1:NM_018995:exon14:c.G1948A:p.V650I 0.25 0.12 0.38 0.25 0.24 0.33 0.2647 0.1556 0.4189 0.2841 0.1976 0.2445 0.2423 0.3243 0.21 0.15 0.24 0.22 0.16 rs2340601 COSM149321;COSM4999206 1(stomach);1(pancreas) . . . . . . . . . . . 0.099 0.339 T 0.903 0.478 P 0.232 0.366 B 0.002 0.381 N 1 0.588 P 2.56 0.750 M -1.79 0.853 D -0.8 0.225 N 0.07 0.211 -1.097 0.045 T 0.000 0.000 T . . . 3.816 0.515 23.4 0.993 0.598 0.663 0.328 D c 0.033 0.097 0.996 0.342 0.732 0.924 0 5.78 0.914 4.291 0.586 0.953 0.551 0.825 0.298 0.989 0.536 19.631 0.957 . ENSG00000073146.11|ENSG00000073146.11|ENSG00000073146.11|ENSG00000073169.9|ENSG00000073146.11|ENSG00000100427.11|ENSG00000182858.9|ENSG00000073146.11 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2632 0.1556 0.3988 0.2495 0.2797 0.2017 0.2350 0.2703 0.315 0.2119 0.1605 0.3813 0.2351 0.2732 0.1976 0.2279 0.2244 het 1398.86 93 22 50572473 . G A 1398.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.272;DP=93;Dels=0.00;FS=0.801;HRun=0;HaplotypeScore=2.8552;MQ=59.40;MQ0=0;MQRankSum=0.710;QD=15.04;ReadPosRankSum=0.575;VQSLOD=6.5233;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,54:93:99:1429,0,865 22 50582550 50582550 C A exonic MOV10L1 synonymous SNV MOV10L1:NM_001164104:exon18:c.C2383A:p.R795R,MOV10L1:NM_001164105:exon18:c.C2323A:p.R775R,MOV10L1:NM_018995:exon18:c.C2383A:p.R795R 0.23 0.13 0.37 0.24 0.17 0.3 0.2297 0.1576 0.4412 0.2648 0.1699 0.1889 0.2119 0.2982 0.17 0.15 0.18 0.2 0.11 rs2272836 COSM4156424;COSM4156423 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2332 0.1586 0.4167 0.2223 0.2646 0.1762 0.1790 0.2263 0.2945 0.1837 0.1612 0.3696 0.2119 0.2599 0.1729 0.1794 0.1939 het 2809.22 248 22 50582550 . C A 2809.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.119;DP=248;DS;Dels=0.00;FS=5.301;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=1.534;QD=11.33;ReadPosRankSum=0.021;VQSLOD=5.6778;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:138,110:248:99:2839,0,3416 22 50582626 50582626 A G exonic MOV10L1 nonsynonymous SNV MOV10L1:NM_001164104:exon18:c.A2459G:p.Q820R,MOV10L1:NM_001164105:exon18:c.A2399G:p.Q800R,MOV10L1:NM_018995:exon18:c.A2459G:p.Q820R 0.34 0.17 0.4 0.57 0.22 0.39 0.3016 0.2012 0.4640 0.5777 0.2083 0.2488 0.2759 0.3595 0.22 0.19 0.24 0.28 0.16 rs2272837 . . . . . . . . . . . . . 0.517 0.088 T 0.0 0.026 B 0.001 0.040 B 0.872 0.088 N 1 0.090 P -0.87 0.014 N -1.57 0.819 D 0.61 0.028 N 0.036 0.035 -0.976 0.359 T 0.000 0.000 T . . . -1.946 0.009 0.001 0.364 0.023 0.202 0.207 N c -1.477 -1.435 1.000 0.747 0.672 0.522 0 -4.18 0.036 1.815 0.384 -1.299 0.014 0.780 0.292 0.002 0.062 8.685 0.332 P-loop containing nucleoside triphosphate hydrolase ENSG00000073146.11|ENSG00000073146.11|ENSG00000073146.11|ENSG00000170638.5|ENSG00000073146.11|ENSG00000073146.11 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Muscularis|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.3034 0.2058 0.4474 0.2604 0.5735 0.2110 0.2399 0.2950 0.3558 0.2499 0.2073 0.3986 0.2252 0.5704 0.2108 0.2416 0.2495 het 1858.35 170 22 50582626 . A G 1858.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.345;DP=170;DS;Dels=0.00;FS=0.848;HRun=1;HaplotypeScore=8.6129;MQ=59.59;MQ0=0;MQRankSum=-0.219;QD=10.93;ReadPosRankSum=0.203;VQSLOD=4.0849;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:101,69:170:99:1888,0,3125 22 50582630 50582630 G A exonic MOV10L1 synonymous SNV MOV10L1:NM_001164104:exon18:c.G2463A:p.P821P,MOV10L1:NM_001164105:exon18:c.G2403A:p.P801P,MOV10L1:NM_018995:exon18:c.G2463A:p.P821P 0.027 0.0038 0.045 . 0.073 0.028 0.0497 0.0108 0.0260 0 0.0355 0.0721 0.0651 0.0312 0.052 0.013 0.073 0.033 0.033 rs11704548 COSM3759287;COSM3759288 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0498 0.0095 0.0284 0.1560 0.0002 0.0355 0.0673 0.0657 0.0305 0.0428 0.0110 0.0406 0.1333 0 0.0301 0.0670 0.0481 het 1851.51 164 22 50582630 . G A 1851.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.450;DP=164;Dels=0.00;FS=3.299;HRun=0;HaplotypeScore=6.5797;MQ=59.58;MQ0=0;MQRankSum=0.356;QD=11.29;ReadPosRankSum=0.019;VQSLOD=4.5349;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:97,67:164:99:1882,0,2933 22 50584201 50584201 A C exonic MOV10L1 synonymous SNV MOV10L1:NM_001164104:exon19:c.A2589C:p.T863T,MOV10L1:NM_001164105:exon19:c.A2529C:p.T843T,MOV10L1:NM_018995:exon19:c.A2589C:p.T863T 0.25 0.12 0.39 0.25 0.24 0.33 0.2665 0.1566 0.4247 0.2806 0.1963 0.2469 0.2467 0.3260 0.21 0.15 0.24 0.22 0.16 rs2272838 COSM149322;COSM5426201 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2697 0.1585 0.4128 0.2540 0.2793 0.2008 0.2402 0.2792 0.3235 0.2145 0.1616 0.3911 0.2318 0.2717 0.1970 0.2323 0.2249 het 2700.60 238 22 50584201 . A C 2700.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.354;DP=238;DS;Dels=0.00;FS=1.003;HRun=1;HaplotypeScore=5.0703;MQ=59.27;MQ0=0;MQRankSum=2.464;QD=11.35;ReadPosRankSum=0.541;VQSLOD=4.8605;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:131,107:238:99:2731,0,3419 22 50589196 50589196 C A exonic MOV10L1 synonymous SNV MOV10L1:NM_001164106:exon3:c.C141A:p.G47G,MOV10L1:NM_001164104:exon21:c.C2760A:p.G920G,MOV10L1:NM_001164105:exon21:c.C2700A:p.G900G,MOV10L1:NM_018995:exon21:c.C2760A:p.G920G 0.14 0.022 0.11 0.24 0.17 0.21 0.1495 0.0376 0.0879 0.2282 0.1857 0.1536 0.1625 0.1893 0.11 0.039 0.15 0.12 0.16 rs2294396 COSM5428654;COSM5428653 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1476 0.0365 0.0924 0.2012 0.2317 0.1725 0.1470 0.1470 0.1828 0.1167 0.0404 0.0921 0.2119 0.2220 0.1642 0.1369 0.1367 het 716.60 70 22 50589196 . C A 716.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DP=70;Dels=0.00;FS=8.647;HRun=0;HaplotypeScore=2.1561;MQ=59.34;MQ0=0;MQRankSum=-0.201;QD=10.24;ReadPosRankSum=0.784;VQSLOD=4.3705;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,29:70:99:747,0,1112 22 50599466 50599466 C A exonic MOV10L1 nonsynonymous SNV MOV10L1:NM_001164106:exon8:c.C917A:p.A306E,MOV10L1:NM_001164104:exon25:c.C3398A:p.A1133E,MOV10L1:NM_018995:exon26:c.C3536A:p.A1179E 0.12 0.031 0.2 0.15 0.14 0.16 0.1461 0.0561 0.1982 0.1614 0.1129 0.1512 0.1432 0.1514 0.12 0.056 0.15 0.12 0.082 rs2272843 . . . . . . . . . . . . . 0.653 0.048 T 0.0 0.026 B 0.001 0.040 B 0.000 0.452 N 1 0.205 P -1.7 0.004 N -1.72 0.923 D 1.35 0.009 N 0.049 0.130 -0.958 0.396 T 0.001 0.003 T . . . 0.162 0.109 4.271 0.590 0.060 0.039 0.091 N c -1.118 -0.925 0.810 0.243 0.461 0.090 0 5.14 0.699 2.918 0.483 0.138 0.222 0.977 0.347 0.113 0.194 5.442 0.157 P-loop containing nucleoside triphosphate hydrolase ENSG00000073146.11|ENSG00000073146.11|ENSG00000188130.9|ENSG00000073146.11|ENSG00000073146.11|ENSG00000188130.9|ENSG00000073146.11|ENSG00000273253.1|ENSG00000170638.5 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.1483 0.0538 0.1996 0.2066 0.1615 0.1184 0.1437 0.1591 0.1493 0.1242 0.0553 0.2005 0.1954 0.1819 0.1186 0.1527 0.1375 het 2282.80 201 22 50599466 . C A 2282.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.580;DP=201;DS;Dels=0.00;FS=1.164;HRun=1;HaplotypeScore=6.4108;MQ=59.61;MQ0=0;MQRankSum=-0.195;QD=11.36;ReadPosRankSum=1.027;VQSLOD=4.3614;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:116,85:201:99:2313,0,3266 22 50632869 50632869 C T exonic TRABD synonymous SNV TRABD:NM_001320484:exon4:c.C213T:p.D71D,TRABD:NM_001320485:exon4:c.C213T:p.D71D,TRABD:NM_001320487:exon4:c.C213T:p.D71D,TRABD:NM_001320488:exon4:c.C213T:p.D71D,TRABD:NM_025204:exon4:c.C213T:p.D71D 0.028 0.0045 0.043 0.005 0.072 0.028 0.0578 0.0139 0.0338 0.0045 0.0400 0.0816 0.0652 0.0370 0.049 0.013 0.068 0.043 0.025 rs4838813 COSM4156443 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0479 0.0094 0.0290 0.146 0.0031 0.0274 0.0648 0.0650 0.0317 0.0419 0.0100 0.0370 0.1358 0.0031 0.0255 0.0668 0.0429 het 630.30 32 22 50632869 . C T 630.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.622;DP=32;Dels=0.00;FS=5.337;HRun=0;HaplotypeScore=0.8941;MQ=58.83;MQ0=0;MQRankSum=2.012;QD=19.70;ReadPosRankSum=0.671;VQSLOD=3.6349;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,22:32:99:660,0,193 22 50656428 50656428 G A exonic TUBGCP6 nonsynonymous SNV TUBGCP6:NM_020461:exon24:c.C5287T:p.R1763W 0.044 0.0068 0.086 0.004 0.097 0.05 0.0874 0.0253 0.0986 0.0008 0.0819 0.1135 0.0905 0.0593 0.075 0.025 0.1 0.033 0.025 rs35381394 . . . . . . . . . . . . . 0.011 0.555 D 0.997 0.764 D 0.642 0.616 P 0.191 0.168 N 1 0.810 D 0 0.065 N 3.04 0.269 T -3.61 0.727 D 0.125 0.178 -1.031 0.201 T 0.003 0.008 T . . . 6.274 0.866 29.0 0.999 0.961 0.943 0.605 D c 0.171 0.167 1.000 0.747 0.672 0.522 0 4.65 0.575 6.702 0.743 1.048 0.713 1.000 0.715 0.041 0.157 17.510 0.876 . ENSG00000128159.7 Lung 0.0858 0.0242 0.0973 0.0795 0.0011 0.0804 0.1127 0.0907 0.0596 0.0720 0.0240 0.0907 0.0861 0.0012 0.0824 0.1025 0.0930 het 292.45 31 22 50656428 . G A 292.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.102;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.602;QD=9.43;ReadPosRankSum=1.318;VQSLOD=10.4977;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,12:31:99:322,0,546 22 50657010 50657010 C G exonic TUBGCP6 nonsynonymous SNV TUBGCP6:NM_020461:exon22:c.G4861C:p.V1621L 1. 1. 1. 1. 1. 1. 0.9956 0.9979 0.9993 1 0.9982 0.9927 0.9978 0.9999 0.99 1. 0.99 0.98 0.97 rs4838864 . . . . . . . . . . . . . 1.0 0.010 T 0.003 0.102 B 0.003 0.080 B 0.004 0.337 N 0.999 0.588 P -2.67 0.000 N 3.43 0.055 T 1.69 0.006 N 0.017 0.147 -1.016 0.249 T 0.000 0.000 T . . . 1.233 0.214 11.92 0.765 0.111 0.488 0.280 N c -0.998 -0.726 1.000 0.424 0.646 0.442 0 1.61 0.226 2.535 0.451 0.101 0.200 1.000 0.715 0.999 0.750 1.927 0.031 . . . 0.9956 0.9985 0.9985 0.9997 1 0.9978 0.9917 0.9953 0.9997 0.9955 0.9985 0.9976 1 1 0.9994 0.9922 0.9949 hom 2320.04 74 22 50657010 . C G 2320.04 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.78;MQ0=0;QD=31.35;VQSLOD=8.4286;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2353,181,0 22 50658424 50658424 T C exonic TUBGCP6 nonsynonymous SNV TUBGCP6:NM_020461:exon17:c.A4129G:p.T1377A 0.43 0.46 0.45 0.39 0.44 0.38 0.4319 0.4895 0.4015 0.3904 0.4415 0.4411 0.4169 0.3987 0.46 0.49 0.44 0.42 0.42 rs11703226 COSM4156444 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(thyroid) . . . . . . . . . . . 0.787 0.100 T 0.005 0.119 B 0.016 0.166 B 0.001 0.006 N 1 0.090 P 0.83 0.210 L 3.14 0.204 T -0.75 0.322 N 0.003 0.021 -0.921 0.454 T 0.000 0.000 T . . . -1.682 0.013 0.002 0.613 0.065 0.148 0.184 N c -1.361 -1.337 0.999 0.375 0.719 0.830 0 -1.43 0.084 -0.027 0.122 -1.392 0.012 0.000 0.063 0.000 0.016 0.893 0.012 . ENSG00000073169.9|ENSG00000128159.7|ENSG00000073169.9|ENSG00000273137.1|ENSG00000073169.9|ENSG00000073169.9|ENSG00000170638.5|ENSG00000073169.9|ENSG00000073169.9|ENSG00000073169.9|ENSG00000273188.1|ENSG00000073169.9 Artery_Tibial|Brain_Cortex|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Liver|Muscle_Skeletal|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid 0.4271 0.4854 0.4027 0.4194 0.3823 0.4202 0.4432 0.4254 0.3997 0.4489 0.4854 0.4010 0.4272 0.4042 0.4332 0.4396 0.4435 het 464.55 42 22 50658424 . T C 464.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.258;DP=42;Dels=0.00;FS=4.777;HRun=0;HaplotypeScore=2.7291;MQ=59.11;MQ0=0;MQRankSum=0.579;QD=11.06;ReadPosRankSum=0.679;VQSLOD=5.5205;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,21:42:99:495,0,541 22 50660137 50660137 G A exonic TUBGCP6 nonsynonymous SNV TUBGCP6:NM_020461:exon16:c.C2651T:p.A884V 0.026 0.0053 0.043 . 0.07 0.026 0.0450 0.0115 0.0255 0.0001 0.0288 0.0638 0.0645 0.0289 0.047 0.013 0.065 0.033 0.025 rs34455105 . . . . . . . . . . . . . 0.14 0.306 T 0.054 0.212 B 0.035 0.214 B 0.003 0.010 N 1 0.090 N 0.68 0.165 N 3.08 0.124 T -0.92 0.262 N 0.041 0.080 -1.002 0.292 T 0.002 0.005 T . . . -0.192 0.077 1.141 0.670 0.080 0.037 0.089 N c -1.534 -1.584 0.487 0.208 0.713 0.817 0 -1.64 0.078 -0.125 0.105 -1.246 0.015 0.001 0.137 0.001 0.043 3.847 0.084 . . . 0.0432 0.0095 0.0295 0.1540 0.0001 0.0267 0.0617 0.0550 0.0280 0.0404 0.0103 0.0358 0.1325 0 0.0244 0.0645 0.0400 het 736.78 57 22 50660137 . G A 736.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.347;DP=57;Dels=0.00;FS=5.667;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-0.482;QD=12.93;ReadPosRankSum=-0.228;VQSLOD=5.4666;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,30:57:99:767,0,602 22 50664612 50664612 A G exonic TUBGCP6 nonsynonymous SNV TUBGCP6:NM_020461:exon9:c.T1700C:p.L567S 0.86 0.98 0.69 0.85 0.78 0.9 0.7912 0.9554 0.6416 0.8369 0.7980 0.7610 0.7919 0.8879 0.82 0.95 0.76 0.81 0.75 rs4838865 . . . . . . . . . . . . . 0.692 0.075 T 0.005 0.119 B 0.007 0.121 B 0.604 0.057 N 1 0.090 P -0.51 0.026 N 3.31 0.063 T 1.13 0.012 N 0.028 0.010 -1.069 0.097 T 0.000 0.000 T . . . -1.386 0.020 0.003 0.315 0.018 0.182 0.200 N c -1.903 -1.879 0.335 0.195 0.707 0.730 0 -5.69 0.022 0.798 0.265 -0.574 0.046 0.593 0.275 0.055 0.167 4.432 0.109 . ENSG00000170638.5|ENSG00000188130.9|ENSG00000188130.9|ENSG00000170638.5|ENSG00000188130.9|ENSG00000188130.9|ENSG00000188130.9|ENSG00000188130.9|ENSG00000188130.9|ENSG00000188130.9|ENSG00000073169.9|ENSG00000188130.9|ENSG00000073169.9|ENSG00000188130.9|ENSG00000073146.11|ENSG00000188130.9|ENSG00000188130.9|ENSG00000188130.9|ENSG00000188130.9|ENSG00000188130.9|ENSG00000188130.9|ENSG00000188130.9|ENSG00000170638.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood 0.7811 0.9595 0.6533 0.7184 0.8298 0.7954 0.7610 0.7679 0.8896 0.8162 0.9504 0.6563 0.7318 0.8241 0.7956 0.7544 0.7888 het 4188.76 234 22 50664612 . A G 4188.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.081;DP=234;DS;Dels=0.00;FS=2.399;HRun=0;HaplotypeScore=2.3149;MQ=59.43;MQ0=0;MQRankSum=-1.075;QD=17.90;ReadPosRankSum=-1.894;VQSLOD=5.1016;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,132:234:99:3547,0,2975 22 50682865 50682865 G A exonic TUBGCP6 synonymous SNV TUBGCP6:NM_020461:exon1:c.C24T:p.F8F 0.28 0.08 0.25 0.36 0.4 0.38 0.3600 0.1372 0.2212 0.3616 0.3820 0.4006 0.3653 0.4140 0.3 0.14 0.39 0.24 0.29 rs5771270 COSM445163 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3492 0.1274 0.2251 0.3736 0.3509 0.3607 0.3957 0.3403 0.4121 0.3137 0.1362 0.2560 0.3974 0.3710 0.3747 0.3943 0.3717 het 377.81 38 22 50682865 . G A 377.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.468;DP=38;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=60.00;MQ0=0;MQRankSum=-0.348;QD=9.94;ReadPosRankSum=-1.347;VQSLOD=5.6694;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,14:38:99:408,0,659 22 50688348 50688348 A G exonic HDAC10 synonymous SNV HDAC10:NM_001159286:exon5:c.T435C:p.C145C,HDAC10:NM_032019:exon5:c.T435C:p.C145C 0.87 0.99 0.83 0.87 0.71 0.92 0.7847 0.9486 0.8738 0.8608 0.7304 0.7112 0.75 0.8959 0.79 0.94 0.71 0.83 0.65 rs1555048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7817 0.9506 0.8629 0.7281 0.8559 0.7336 0.7067 0.7551 0.8952 0.7907 0.9419 0.8349 0.7616 0.8497 0.7297 0.7101 0.7658 het 645.56 72 22 50688348 . A G 645.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.072;DP=72;Dels=0.00;FS=2.009;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.657;QD=8.97;ReadPosRankSum=0.705;VQSLOD=6.1680;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,28:72:99:676,0,1170 22 50694297 50694297 A G exonic MAPK12 synonymous SNV MAPK12:NM_001303252:exon7:c.T603C:p.S201S,MAPK12:NM_002969:exon8:c.T633C:p.S211S 0.84 0.9 0.81 0.87 0.7 0.92 0.7746 0.8695 0.8691 0.8624 0.7192 0.7072 0.7358 0.8952 0.76 0.86 0.7 0.83 0.53 rs1129880 COSM3759292;COSM3759291 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7732 0.8704 0.8576 0.7205 0.8570 0.7241 0.7030 0.7472 0.8949 0.7662 0.8678 0.8294 0.7616 0.8494 0.7201 0.7058 0.7561 het 776.77 62 22 50694297 . A G 776.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.233;DP=62;Dels=0.00;FS=7.177;HRun=1;HaplotypeScore=2.6623;MQ=58.38;MQ0=0;MQRankSum=-0.542;QD=12.53;ReadPosRankSum=-2.416;VQSLOD=3.9757;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,30:62:99:807,0,885 22 50699668 50699668 A G exonic MAPK12 synonymous SNV MAPK12:NM_001303252:exon2:c.T183C:p.P61P,MAPK12:NM_002969:exon2:c.T183C:p.P61P 0.67 0.66 0.75 0.56 0.74 0.67 0.7657 0.7344 0.7691 0.6309 0.8518 0.7994 0.8036 0.6960 0.74 0.68 0.77 0.49 0.29 rs2272857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7387 0.6858 0.7330 0.7635 0.5596 0.8266 0.7736 0.7570 0.6683 0.7372 0.6802 0.7268 0.7267 0.5249 0.8091 0.7756 0.7669 het 283.46 19 22 50699668 . A G 283.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.537;DP=19;Dels=0.00;FS=2.199;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.280;QD=14.92;ReadPosRankSum=-0.619;VQSLOD=5.7309;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,11:19:99:313,0,231 22 50704661 50704661 T C exonic MAPK11 synonymous SNV MAPK11:NM_002751:exon9:c.A756G:p.S252S 0.69 0.7 0.75 0.57 0.74 0.68 0.7610 0.7467 0.7571 0.6334 0.8372 0.7898 0.7799 0.7120 0.75 0.72 0.76 0.7 0.64 rs2076139 COSM1751941 1(urinary_tract);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7350 0.7218 0.7322 0.7475 0.5654 0.8147 0.7644 0.7549 0.6804 0.7441 0.7195 0.7285 0.7185 0.5278 0.7979 0.7692 0.7669 het 279.19 18 22 50704661 . T C 279.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.359;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.177;QD=15.51;ReadPosRankSum=-0.272;VQSLOD=12.0196;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,11:18:99:309,0,208 22 50705466 50705466 A G exonic MAPK11 synonymous SNV MAPK11:NM_002751:exon7:c.T507C:p.F169F 1. 1. 1. 1. 1. 1. 0.9969 0.9985 0.9986 1 0.9974 0.9951 0.9978 1 1. 1. 0.99 0.97 0.96 rs760748 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9967 0.9987 0.9978 0.9999 1 0.9973 0.9942 0.9960 1 0.9962 0.9987 0.9952 1 1 0.9983 0.9941 0.9929 hom 2553.13 82 22 50705466 . A G 2553.13 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9106;MQ=59.72;MQ0=0;QD=31.14;VQSLOD=8.3764;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:82:99:2586,208,0 22 50716167 50716167 G A exonic PLXNB2 synonymous SNV PLXNB2:NM_012401:exon33:c.C5049T:p.S1683S 0.5 0.27 0.48 0.61 0.57 0.63 0.5560 0.3020 0.4931 0.6258 0.5553 0.5767 0.5754 0.6390 0.48 0.3 0.56 0.43 0.38 rs1127000 COSM3759293 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . . . . . . -0.964 0.384 T 0.000 0.000 T . . . -0.006 0.093 2.532 0.344 0.021 0.652 0.324 D c -0.095 -0.472 0.950 0.279 0.672 0.522 0 -4.29 0.034 0.117 0.153 -1.137 0.017 0.980 0.350 0.029 0.146 14.262 0.655 . . . 0.5541 0.2931 0.4949 0.4910 0.6289 0.5622 0.5794 0.5337 0.6364 0.4920 0.3032 0.4916 0.5 0.6627 0.5742 0.5608 0.5480 het 1784.08 141 22 50716167 . G A 1784.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.076;DP=141;Dels=0.00;FS=1.462;HRun=2;HaplotypeScore=0.9947;MQ=59.67;MQ0=0;MQRankSum=-1.223;QD=12.65;ReadPosRankSum=-0.142;VQSLOD=6.4243;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,68:141:99:1814,0,2086 22 50719251 50719251 A G exonic PLXNB2 synonymous SNV PLXNB2:NM_012401:exon24:c.T3915C:p.P1305P 0.62 0.66 0.53 0.61 0.59 0.65 0.5969 0.6505 0.5176 0.6259 0.5671 0.5871 0.5979 0.6552 0.61 0.64 0.59 0.42 0.52 rs11547734 COSM3759294 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5902 0.6513 0.5223 0.5059 0.6294 0.5631 0.5921 0.5567 0.6576 0.5983 0.6490 0.5204 0.5066 0.6590 0.5766 0.5751 0.5757 het 544.06 52 22 50719251 . A G 544.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.237;DP=52;Dels=0.00;FS=1.129;HRun=3;HaplotypeScore=1.8154;MQ=59.56;MQ0=0;MQRankSum=-1.858;QD=10.46;ReadPosRankSum=1.638;VQSLOD=5.0025;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,26:52:99:574,0,628 22 50720622 50720622 C T exonic PLXNB2 synonymous SNV PLXNB2:NM_012401:exon19:c.G3108A:p.Q1036Q 0.38 0.32 0.31 0.27 0.48 0.53 0.4409 0.3599 0.2850 0.2992 0.4209 0.4754 0.4391 0.5406 0.43 0.34 0.47 0.37 0.31 rs11547728 COSM3759295 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4284 0.3545 0.2935 0.4186 0.2942 0.4198 0.4742 0.4172 0.5386 0.4076 0.3572 0.3038 0.4106 0.2930 0.4314 0.4495 0.4078 het 666.28 47 22 50720622 . C T 666.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.820;DP=47;Dels=0.00;FS=4.854;HRun=1;HaplotypeScore=2.8760;MQ=60.00;MQ0=0;MQRankSum=-1.765;QD=14.18;ReadPosRankSum=-0.011;VQSLOD=4.4440;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,26:47:99:696,0,595 22 50722134 50722134 T C exonic PLXNB2 nonsynonymous SNV PLXNB2:NM_012401:exon15:c.A2467G:p.I823V 0.65 0.76 0.55 0.58 0.64 0.67 0.6374 0.7471 0.5175 0.5889 0.5743 0.6472 0.6216 0.6687 0.68 0.76 0.65 0.54 0.55 rs11547731 COSM445170 1(kidney);4(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.075 0.344 T 0.999 0.764 D 0.998 0.875 D 0.014 0.286 N 0.003 0.438 P 2.545 0.745 M -0.09 0.641 T -0.76 0.212 N 0.131 0.150 -0.942 0.423 T 0.000 0.000 T . . . 4.574 0.613 24.4 0.999 0.940 0.916 0.535 D c 0.412 0.312 1.000 0.458 0.672 0.522 0 4.22 0.490 7.137 0.767 0.909 0.420 1.000 0.715 0.143 0.203 11.353 0.486 IPT domain|Immunoglobulin E-set|Immunoglobulin-like fold . . 0.6271 0.7505 0.5260 0.7086 0.5850 0.5617 0.6418 0.6160 0.6698 0.6498 0.7524 0.5477 0.7067 0.6233 0.5727 0.6180 0.6122 het 909.53 62 22 50722134 . T C 909.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.02;MQ0=0;MQRankSum=-0.781;QD=14.67;ReadPosRankSum=1.065;VQSLOD=6.0617;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,35:62:99:940,0,662 22 50728062 50728062 T C exonic PLXNB2 nonsynonymous SNV PLXNB2:NM_012401:exon3:c.A952G:p.K318E 0.45 0.7 0.27 0.57 0.4 0.19 0.3817 0.6476 0.2119 0.5994 0.3568 0.3868 0.3261 0.2263 0.45 0.61 0.38 0.37 0.28 rs28379706 COSM3759297 3(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.985 0.081 N 1 0.090 P -0.895 0.014 N 3.69 0.041 T 2.07 0.004 N 0.01 0.002 -0.981 0.347 T 0.000 0.000 T . . . -2.284 0.005 0.001 0.136 0.003 0.009 0.035 N c -1.562 -1.518 0.989 0.316 0.707 0.730 0 -1.27 0.088 -0.306 0.082 -0.480 0.053 0.000 0.063 0.001 0.043 6.759 0.226 Sema domain|WD40/YVTN repeat-like-containing domain ENSG00000100239.11|ENSG00000185386.10 Artery_Aorta|Skin_Sun_Exposed_Lower_leg 0.3723 0.6578 0.2329 0.2559 0.6035 0.3581 0.3936 0.3425 0.2299 0.4716 0.6462 0.2584 0.2318 0.6318 0.3698 0.3997 0.3691 het 575.08 55 22 50728062 . T C 575.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.571;DP=55;Dels=0.00;FS=7.438;HRun=0;HaplotypeScore=1.3302;MQ=58.63;MQ0=0;MQRankSum=0.497;QD=10.46;ReadPosRankSum=-0.716;VQSLOD=4.6789;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,26:55:99:605,0,832 22 50873497 50873497 C T exonic PPP6R2 synonymous SNV PPP6R2:NM_001242898:exon13:c.C1503T:p.S501S,PPP6R2:NM_001242899:exon13:c.C1506T:p.S502S,PPP6R2:NM_001242900:exon13:c.C1503T:p.S501S,PPP6R2:NM_001351641:exon13:c.C1506T:p.S502S,PPP6R2:NM_001351642:exon13:c.C1503T:p.S501S,PPP6R2:NM_001351644:exon13:c.C1503T:p.S501S,PPP6R2:NM_001351646:exon13:c.C1500T:p.S500S,PPP6R2:NM_001351647:exon13:c.C1017T:p.S339S,PPP6R2:NM_001351648:exon13:c.C1017T:p.S339S,PPP6R2:NM_014678:exon13:c.C1503T:p.S501S,PPP6R2:NM_001351643:exon14:c.C1503T:p.S501S,PPP6R2:NM_001351645:exon14:c.C1503T:p.S501S 0.053 0.011 0.088 0.001 0.14 0.046 0.1199 0.0241 0.0794 0.0005 0.1119 0.1628 0.1133 0.0788 0.1 0.024 0.14 0.033 0.025 rs1134848 COSM4156456;COSM445174 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1035 0.0205 0.0718 0.2166 0.0003 0.0881 0.1453 0.1284 0.0601 0.0895 0.0239 0.1005 0.1523 0.0006 0.0811 0.1358 0.1104 het 183.99 18 22 50873497 . C T 183.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.644;DP=18;Dels=0.00;FS=2.527;HRun=0;HaplotypeScore=0.9983;MQ=58.71;MQ0=0;MQRankSum=0.755;QD=10.22;ReadPosRankSum=1.022;VQSLOD=5.4417;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:214,0,257 22 50877166 50877166 G C exonic PPP6R2 synonymous SNV PPP6R2:NM_001242899:exon18:c.G2025C:p.A675A,PPP6R2:NM_001242900:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351644:exon18:c.G2022C:p.A674A,PPP6R2:NM_001351646:exon18:c.G2019C:p.A673A,PPP6R2:NM_001351648:exon18:c.G1536C:p.A512A,PPP6R2:NM_014678:exon18:c.G2022C:p.A674A,PPP6R2:NM_001242898:exon19:c.G2103C:p.A701A,PPP6R2:NM_001351641:exon19:c.G2106C:p.A702A,PPP6R2:NM_001351642:exon19:c.G2103C:p.A701A,PPP6R2:NM_001351645:exon19:c.G2022C:p.A674A,PPP6R2:NM_001351647:exon19:c.G1617C:p.A539A,PPP6R2:NM_001351643:exon20:c.G2103C:p.A701A 0.67 0.47 0.75 0.93 0.66 0.62 0.6821 0.5221 0.7898 0.9386 0.7117 0.6673 0.6811 0.6241 0.59 0.49 0.64 0.66 0.25 rs4824131 COSM3759299;COSM3759298 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6740 0.4912 0.7708 0.6819 0.9428 0.6872 0.6419 0.6821 0.6042 0.6339 0.4990 0.7661 0.6821 0.9382 0.6966 0.6536 0.6780 hom 417.51 15 22 50877166 . G C 417.51 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.83;VQSLOD=12.8617;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:36.11:451,36,0 22 50878196 50878196 G A exonic PPP6R2 nonsynonymous SNV PPP6R2:NM_001242899:exon19:c.G2117A:p.R706K,PPP6R2:NM_001242900:exon19:c.G2117A:p.R706K,PPP6R2:NM_001351644:exon19:c.G2117A:p.R706K,PPP6R2:NM_001351646:exon19:c.G2111A:p.R704K,PPP6R2:NM_001351648:exon19:c.G1628A:p.R543K,PPP6R2:NM_014678:exon19:c.G2114A:p.R705K,PPP6R2:NM_001242898:exon20:c.G2195A:p.R732K,PPP6R2:NM_001351641:exon20:c.G2198A:p.R733K,PPP6R2:NM_001351642:exon20:c.G2198A:p.R733K,PPP6R2:NM_001351645:exon20:c.G2114A:p.R705K,PPP6R2:NM_001351647:exon20:c.G1709A:p.R570K,PPP6R2:NM_001351643:exon21:c.G2195A:p.R732K 0.19 0.11 0.26 0.14 0.3 0.22 0.2447 0.1257 0.2652 0.1479 0.2638 0.2802 0.2592 0.2044 0.23 0.13 0.28 0.29 0.098 rs13057311 COSM3759301;COSM3759300 1(large_intestine) . . . . . . . . . . . 0.927 0.023 T 0.488 0.350 P 0.05 0.263 B 0.477 0.122 N 1.000 0.195 P 1.1 0.281 L 1.03 0.405 T -0.27 0.114 N 0.013 0.011 -1.004 0.286 T 0.000 0.000 T . . . -0.725 0.044 0.063 0.381 0.025 0.391 0.259 N c -1.018 -0.970 0.549 0.213 0.672 0.522 0 1.46 0.217 0.845 0.271 -0.441 0.057 0.712 0.285 0.003 0.074 7.137 0.246 . . . 0.2440 0.1196 0.2604 0.3275 0.1465 0.2424 0.2752 0.2844 0.1965 0.2220 0.1249 0.2888 0.3113 0.1393 0.2431 0.2747 0.2602 het 601.12 52 22 50878196 . G A 601.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.055;DP=52;Dels=0.00;FS=4.459;HRun=1;HaplotypeScore=2.6548;MQ=58.66;MQ0=0;MQRankSum=1.184;QD=11.56;ReadPosRankSum=-0.028;VQSLOD=4.9345;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,24:52:99:631,0,803 22 50879447 50879447 T G exonic PPP6R2 synonymous SNV PPP6R2:NM_001242899:exon21:c.T2493G:p.A831A,PPP6R2:NM_001242900:exon21:c.T2493G:p.A831A,PPP6R2:NM_001351644:exon21:c.T2493G:p.A831A,PPP6R2:NM_001351646:exon21:c.T2487G:p.A829A,PPP6R2:NM_001351648:exon21:c.T2004G:p.A668A,PPP6R2:NM_014678:exon21:c.T2490G:p.A830A,PPP6R2:NM_001242898:exon22:c.T2571G:p.A857A,PPP6R2:NM_001351641:exon22:c.T2574G:p.A858A,PPP6R2:NM_001351642:exon22:c.T2574G:p.A858A,PPP6R2:NM_001351645:exon22:c.T2490G:p.A830A,PPP6R2:NM_001351647:exon22:c.T2085G:p.A695A,PPP6R2:NM_001351643:exon23:c.T2571G:p.A857A 0.17 0.1 0.22 0.25 0.19 0.11 0.2387 0.1421 0.3198 0.3294 0.3011 0.2394 0.2235 0.1677 0.15 0.11 0.17 0.098 0.13 rs2273260 COSM4156457;COSM4156458 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2014 0.1103 0.2585 0.1430 0.2726 0.2593 0.1986 0.1840 0.1333 0.1821 0.1160 0.2148 0.1424 0.2621 0.2593 0.1917 0.2004 het 181.03 26 22 50879447 . T G 181.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.694;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=-0.583;QD=6.96;ReadPosRankSum=-1.028;VQSLOD=4.9889;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,8:26:99:211,0,570 22 50885775 50885775 A G exonic SBF1 synonymous SNV SBF1:NM_002972:exon40:c.T5559C:p.T1853T 0.5 0.49 0.54 0.47 0.56 0.46 0.5176 0.4771 0.5441 0.4513 0.5138 0.5420 0.5145 0.4606 0.52 0.49 0.54 0.53 0.39 rs1053744 COSM4407614;COSM4407615 1(liver) Benign not_specified RCV000245755.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5198 0.4749 0.5457 0.5853 0.4516 0.5140 0.5404 0.5378 0.4572 0.5208 0.4838 0.5609 0.5828 0.4269 0.5141 0.5489 0.5471 hom 4273.23 138 22 50885775 . A G 4273.23 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.314;DP=138;Dels=0.00;FS=2.702;HRun=1;HaplotypeScore=2.9493;MQ=58.95;MQ0=0;MQRankSum=0.368;QD=30.97;ReadPosRankSum=0.440;VQSLOD=4.2376;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,136:138:99:4204,299,0 22 50885800 50885800 G A exonic SBF1 nonsynonymous SNV SBF1:NM_002972:exon40:c.C5534T:p.T1845M 0.0002 . . 0.001 . . 4.145e-05 0 0 0.0005 0 1.501e-05 0 0 0.0001 0.0002 . . . rs374954381 . . . . . . . . . . . . . 0.094 0.313 T 0.986 0.764 D 0.89 0.647 P 0.000 0.481 D 0.999 0.464 D 2.225 0.632 M 2.68 0.124 T -2.35 0.519 N 0.246 0.492 -1.123 0.022 T 0.074 0.298 T 0.043 0.609 D 4.758 0.638 24.7 0.999 0.958 0.930 0.568 D c 0.440 0.340 1.000 0.747 0.713 0.817 0 3.22 0.359 6.409 0.730 1.048 0.713 1.000 0.715 0.666 0.302 10.060 0.412 PH domain-like|Pleckstrin homology domain . . 4.874e-05 0 2.978e-05 0 0.0004 4.484e-05 1.791e-05 0.0002 0 9.714e-05 0.0002 0 0 0 0 6.693e-05 0 het 2025.07 172 22 50885800 . G A 2025.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.879;DP=172;Dels=0.00;FS=2.729;HRun=0;HaplotypeScore=8.1830;MQ=59.03;MQ0=0;MQRankSum=0.818;QD=11.77;ReadPosRankSum=-1.612;VQSLOD=2.6444;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:93,78:172:99:2055,0,2147 22 50895020 50895020 C T exonic SBF1 synonymous SNV SBF1:NM_002972:exon30:c.G3987A:p.A1329A 0.31 0.083 0.37 0.71 0.23 0.24 0.3831 0.1611 0.5151 0.7331 0.4068 0.3166 0.3370 0.3577 0.16 0.094 0.19 0.18 0.074 rs5771001 COSM4156463;COSM4156462 1(thyroid) Benign not_specified RCV000249535.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2842 0.0971 0.4074 0.1404 0.7110 0.2718 0.2083 0.2499 0.2495 0.2271 0.1069 0.3640 0.1333 0.7241 0.2887 0.2200 0.2731 het 74.04 11 22 50895020 . C T 74.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;MQRankSum=0.143;QD=6.73;ReadPosRankSum=0.717;VQSLOD=5.0781;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,5:11:99:104,0,163 22 50928026 50928026 G A exonic MIOX synonymous SNV MIOX:NM_017584:exon9:c.G702A:p.L234L 0.2 0.12 0.22 0.31 0.21 0.15 0.2166 0.1490 0.2699 0.3142 0.1774 0.2200 0.2091 0.1709 0.19 0.15 0.22 . 0.23 rs2232885 COSM1751949 1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2153 0.1452 0.2615 0.1775 0.3179 0.1738 0.2190 0.2145 0.1706 0.2042 0.1555 0.2601 0.1656 0.3381 0.1845 0.2194 0.2203 het 523.34 50 22 50928026 . G A 523.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.977;DP=50;Dels=0.00;FS=8.862;HRun=0;HaplotypeScore=4.4619;MQ=58.19;MQ0=0;MQRankSum=0.391;QD=10.47;ReadPosRankSum=-1.332;VQSLOD=3.8565;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,26:50:99:553,0,717 22 50944128 50944128 G A exonic LMF2 synonymous SNV LMF2:NM_033200:exon6:c.C891T:p.H297H 0.35 0.29 0.34 0.39 0.26 0.48 0.3093 0.3028 0.2711 0.3643 0.2553 0.2833 0.2872 0.4368 0.29 0.3 0.29 0.39 0.3 rs743615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3053 0.2964 0.2752 0.2345 0.3595 0.2531 0.2895 0.2787 0.4333 0.2954 0.2992 0.2608 0.2450 0.3300 0.2562 0.3016 0.2959 het 607.98 57 22 50944128 . G A 607.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.836;DP=57;Dels=0.00;FS=1.108;HRun=0;HaplotypeScore=4.0217;MQ=59.19;MQ0=0;MQRankSum=-0.244;QD=10.67;ReadPosRankSum=1.110;VQSLOD=5.6514;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,23:57:99:638,0,786 22 50944163 50944163 G A exonic LMF2 synonymous SNV LMF2:NM_033200:exon6:c.C856T:p.L286L 0.56 0.31 0.65 0.74 0.63 0.55 0.6071 0.3641 0.7244 0.7494 0.6630 0.6122 0.6059 0.5579 0.52 0.37 0.6 0.55 0.62 rs128941 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6151 0.3537 0.7164 0.5443 0.7569 0.6661 0.6092 0.6378 0.5570 0.5577 0.3689 0.7005 0.5497 0.7942 0.6561 0.6073 0.6170 hom 2260.79 70 22 50944163 . G A 2260.79 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=32.30;VQSLOD=9.6741;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2294,187,0 22 50962208 50962208 T G exonic SCO2 synonymous SNV SCO2:NM_001169109:exon2:c.A633C:p.A211A,SCO2:NM_001169110:exon2:c.A633C:p.A211A,SCO2:NM_001169111:exon2:c.A633C:p.A211A,SCO2:NM_005138:exon2:c.A633C:p.A211A 0.66 0.67 0.62 0.67 0.62 0.69 0.6383 0.6604 0.6376 0.6977 0.6545 0.6139 0.6766 0.6843 0.64 0.67 0.62 0.66 0.53 rs12148 . . Benign|Benign|Benign|Benign not_specified|Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)|Cytochrome-c_oxidase_deficiency|Fatal_Infantile_Cardioencephalomyopathy RCV000128016.1|RCV000269901.1|RCV000300513.1|RCV000404245.1 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0872218:603041|C0268237:220110:ORPHA254905:67434000|CN239235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6403 0.6624 0.6420 0.6544 0.6983 0.6553 0.6106 0.6580 0.6844 0.6349 0.6652 0.6408 0.6324 0.7228 0.6333 0.6094 0.6102 hom 6525.74 205 22 50962208 . T G 6525.74 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.715;DP=205;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1040;MQ=59.41;MQ0=0;MQRankSum=1.715;QD=31.83;ReadPosRankSum=0.701;VQSLOD=4.5762;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,204:205:99:6525,524,0 22 50962782 50962782 C G exonic SCO2 nonsynonymous SNV SCO2:NM_001169109:exon2:c.G59C:p.R20P,SCO2:NM_001169110:exon2:c.G59C:p.R20P,SCO2:NM_001169111:exon2:c.G59C:p.R20P,SCO2:NM_005138:exon2:c.G59C:p.R20P 0.65 0.66 0.62 0.67 0.62 0.69 0.6393 0.6513 0.6368 0.6989 0.6551 0.6160 0.6838 0.6846 0.63 0.66 0.62 0.65 0.54 rs140523 COSM1484348;COSM445183 1(upper_aerodigestive_tract);2(large_intestine) Benign|Benign|Benign|Benign not_specified|Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)|Cytochrome-c_oxidase_deficiency|Fatal_Infantile_Cardioencephalomyopathy RCV000128012.1|RCV000271220.1|RCV000338357.1|RCV000374348.1 MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN169374|C0872218:603041|C0268237:220110:ORPHA254905:67434000|CN239235 . . . . . . 0.818 0.030 T 0.0 0.026 B 0.0 0.013 B 0.004 0.010 N 1 0.090 P -1.355 0.007 N -1.83 0.841 D 0.11 0.110 N 0.041 0.635 -0.992 0.322 T 0.000 0.000 T . . . 0.151 0.108 4.154 0.414 0.030 0.018 0.055 N c -1.820 -1.869 1.000 0.747 0.722 0.854 0 -3.74 0.041 -2.890 0.008 -0.435 0.058 0.000 0.063 0.000 0.016 5.354 0.152 . ENSG00000025708.8|ENSG00000025708.8|ENSG00000130489.8|ENSG00000025708.8|ENSG00000025708.8|ENSG00000177989.9|ENSG00000025708.8|ENSG00000177989.9|ENSG00000025708.8|ENSG00000130489.8|ENSG00000177989.9|ENSG00000025708.8 Adipose_Subcutaneous|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Stomach|Whole_Blood|Whole_Blood 0.6390 0.6480 0.6408 0.6547 0.6990 0.6535 0.6101 0.6602 0.6841 0.6307 0.6501 0.6408 0.6324 0.7239 0.6341 0.6091 0.6101 hom 1580.68 55 22 50962782 . C G 1580.68 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.70;MQ0=0;QD=28.74;VQSLOD=7.9706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1614,129,0 22 50988062 50988062 G T exonic KLHDC7B synonymous SNV KLHDC7B:NM_138433:exon1:c.G1467T:p.V489V 0.41 0.19 0.44 0.58 0.49 0.4 0.4772 0.2242 0.4690 0.6308 0.5833 0.4969 0.4857 0.4104 0.4 0.23 0.48 0.3 0.48 rs140519 COSM3759310;COSM3759309 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4790 0.2163 0.4714 0.4649 0.6268 0.5899 0.4923 0.4830 0.4066 0.4327 0.2223 0.4785 0.4437 0.6590 0.5650 0.4938 0.4805 hom 4010.61 126 22 50988062 . G T 4010.61 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9867;MQ=59.34;MQ0=0;QD=31.83;VQSLOD=9.4596;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:126:99:4010,319,0 22 50988193 50988193 A G exonic KLHDC7B nonsynonymous SNV KLHDC7B:NM_138433:exon1:c.A1598G:p.H533R 0.58 0.57 0.53 0.59 0.64 0.56 0.6471 0.6034 0.5765 0.6603 0.7550 0.6705 0.6346 0.5898 0.62 0.58 0.65 0.5 0.24 rs131779 COSM4156469;COSM445185 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.080 0.210 N 0.891 0.278 P -1.895 0.002 N 2.64 0.128 T 2.59 0.002 N 0.046 0.026 -1.030 0.205 T 0.000 0.000 T . . . -2.099 0.007 0.001 0.463 0.037 0.089 0.146 N c -0.939 -0.778 1.000 0.489 0.660 0.495 0 3.31 0.369 2.924 0.483 -0.616 0.043 0.991 0.370 0.025 0.141 8.307 0.310 Kelch-type beta propeller ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000205559.3|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000205560.8|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.6276 0.5727 0.5576 0.6187 0.6387 0.7434 0.6540 0.6404 0.5748 0.6543 0.5907 0.6013 0.6146 0.6724 0.7361 0.6736 0.6474 hom 521.42 16 22 50988193 . A G 521.42 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.05;MQ0=0;QD=32.59;VQSLOD=8.8578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:554,45,0 22 51009953 51009953 C T exonic CPT1B nonsynonymous SNV CPT1B:NM_001145134:exon13:c.G1489A:p.E497K,CPT1B:NM_001145137:exon13:c.G1591A:p.E531K,CPT1B:NM_001145135:exon14:c.G1591A:p.E531K,CPT1B:NM_004377:exon14:c.G1591A:p.E531K,CPT1B:NM_152245:exon14:c.G1591A:p.E531K,CPT1B:NM_152246:exon14:c.G1591A:p.E531K 0.33 0.091 0.44 0.46 0.46 0.34 0.4204 0.1429 0.4613 0.4557 0.4507 0.4693 0.4122 0.3372 0.36 0.16 0.46 0.34 0.46 rs470117 COSM4985733 11(soft_tissue) . . . . . . . . . . . 0.095 0.316 T 0.966 0.542 D 0.503 0.459 P 0.000 0.843 D 0.000 0.588 P 1.51 0.383 L -2.46 0.889 D -2.53 0.548 D 0.299 0.579 -1.118 0.025 T 0.000 0.000 T . . . 4.404 0.590 24.1 0.998 0.865 0.976 0.754 D c 0.256 0.299 1.000 0.747 0.672 0.522 0 5.31 0.750 3.978 0.563 0.935 0.490 1.000 0.715 0.607 0.290 16.511 0.841 . ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000205560.8|ENSG00000205559.3|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000205559.3|ENSG00000100288.15|ENSG00000205560.8|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000205560.8|ENSG00000100288.15|ENSG00000205560.8|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000205560.8|ENSG00000205560.8|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000205560.8|ENSG00000025708.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Vagina|Whole_Blood|Whole_Blood 0.4249 0.1381 0.4585 0.4344 0.4508 0.4561 0.4671 0.4406 0.3388 0.3717 0.1445 0.4629 0.4404 0.4584 0.4559 0.4647 0.4356 hom 8301.99 249 22 51009953 . C T 8301.99 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.35;MQ0=0;QD=33.34;VQSLOD=9.4568;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8301,650,0 22 51043278 51043278 G A exonic MAPK8IP2 unknown UNKNOWN 0.64 0.32 0.73 0.85 0.69 0.74 0.7264 0.5008 0.7829 0.8310 0.7672 0.7221 0.7346 0.7271 0.58 0.39 0.67 0.64 . rs3219201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6854 0.3645 0.7213 0.5868 0.8291 0.7368 0.6804 0.6754 0.7106 0.6166 0.3734 0.6866 0.5633 0.8344 0.7284 0.7004 0.6940 het 285.67 20 22 51043278 . G A 285.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.643;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.113;QD=14.28;ReadPosRankSum=-0.869;VQSLOD=11.8222;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,10:20:99:316,0,285 22 51045190 51045190 C T exonic MAPK8IP2 unknown UNKNOWN 0.62 0.37 0.61 0.84 0.64 0.69 0.6448 0.4555 0.6270 0.8159 0.6518 0.6528 0.6485 0.6463 0.57 0.42 0.63 0.56 . rs1140555 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6248 0.3994 0.5767 0.5696 0.8246 0.6463 0.6332 0.6326 0.6435 0.5789 0.4039 0.5849 0.5298 0.8333 0.6384 0.6369 0.6242 het 273.68 15 22 51045190 . C T 273.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.898;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5204;MQ=57.03;MQ0=0;MQRankSum=1.164;QD=18.25;ReadPosRankSum=0.429;VQSLOD=2.6882;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:5,10:15:99:304,0,99 22 51064039 51064039 G C exonic ARSA nonsynonymous SNV ARSA:NM_000487:exon7:c.C1178G:p.T393S,ARSA:NM_001085428:exon7:c.C920G:p.T307S,ARSA:NM_001085425:exon8:c.C1178G:p.T393S,ARSA:NM_001085426:exon8:c.C1178G:p.T393S,ARSA:NM_001085427:exon8:c.C1178G:p.T393S 0.41 0.36 0.47 0.32 0.53 0.38 0.4843 0.3941 0.4156 0.2984 0.5923 0.5393 0.48 0.4220 0.48 0.39 0.53 0.45 0.47 rs743616 . . other|Benign Metachromatic_leukodystrophy|not_specified RCV000020311.2|RCV000078937.5 MedGen:OMIM:Orphanet:SNOMED_CT|MedGen C0023522:250100:ORPHA512:396338004|CN169374 . . . . . . 0.469 0.089 T 0.0 0.026 B 0.0 0.013 B 0.650 0.059 N 1 0.090 P -1.62 0.004 N -2.52 0.894 D 0.13 0.055 N 0.03 0.288 -1.017 0.246 T 0.000 0.000 T . . . 0.516 0.143 7.551 0.830 0.140 0.024 0.067 N c -1.159 -1.009 0.795 0.241 0.745 0.986 0 -0.029 0.132 0.122 0.154 -1.664 0.008 0.000 0.063 0.418 0.257 1.589 0.025 Alkaline phosphatase-like\x2c alpha/beta/alpha|Alkaline-phosphatase-like\x2c core domain|Sulfatase\x2c N-terminal;Alkaline-phosphatase-like\x2c core domain ENSG00000100288.15|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100299.13|ENSG00000100288.15|ENSG00000100288.15|ENSG00000100299.13|ENSG00000100288.15|ENSG00000100299.13|ENSG00000100299.13 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Stomach|Testis|Whole_Blood 0.4815 0.3849 0.4180 0.4228 0.2917 0.5930 0.5409 0.5068 0.4235 0.4955 0.3943 0.4427 0.4404 0.2928 0.5988 0.5556 0.5051 hom 4416.37 146 22 51064039 . G C 4416.37 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.13;MQ0=0;QD=30.25;VQSLOD=8.8288;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4416,337,0 22 51064068 51064068 G A exonic ARSA synonymous SNV ARSA:NM_000487:exon7:c.C1149T:p.D383D,ARSA:NM_001085428:exon7:c.C891T:p.D297D,ARSA:NM_001085425:exon8:c.C1149T:p.D383D,ARSA:NM_001085426:exon8:c.C1149T:p.D383D,ARSA:NM_001085427:exon8:c.C1149T:p.D383D 0.028 0.057 0.032 0.001 0.026 0.017 0.0344 0.0494 0.0154 0.0002 0.0503 0.0384 0.0434 0.0334 0.043 0.05 0.039 0.022 0.033 rs6151425 . . Benign|Likely benign\x2cnot provided not_specified|Metachromatic_leukodystrophy\x2cnot_provided RCV000078935.5|RCV000335551.1\x2cRCV000058944.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen CN169374|C0023522:250100:ORPHA512:396338004\x2cCN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0339 0.0479 0.0163 0.0664 0.0003 0.0498 0.0368 0.0320 0.0323 0.0399 0.0501 0.0274 0.0629 0 0.0469 0.0376 0.0276 het 1526.96 137 22 51064068 . G A 1526.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.558;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9097;MQ=59.07;MQ0=0;MQRankSum=-0.446;QD=11.15;ReadPosRankSum=-0.420;VQSLOD=6.3905;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,65:137:99:1557,0,1881 22 51117580 51117580 T C exonic SHANK3 nonsynonymous SNV SHANK3:NM_033517:exon6:c.T734C:p.I245T 0.34 0.41 0.35 0.075 0.51 0.35 0.5116 0.4720 0.3940 0.1261 0.5686 0.5738 0.5059 0.4642 0.48 0.4 0.52 0.28 . rs9616915 COSM445196 3(large_intestine) Benign not_specified RCV000454654.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4276 0.4141 0.2960 0.6403 0.0768 0.4768 0.5182 0.4614 0.3732 0.4543 0.4141 0.3285 0.6556 0.0604 0.4811 0.5162 0.4683 het 221.89 11 22 51117580 . T C 221.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.931;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.382;QD=20.17;ReadPosRankSum=0.566;VQSLOD=13.1536;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,8:11:54.65:252,0,55 X 200860 200860 T C exonic PLCXD1 synonymous SNV PLCXD1:NM_018390:exon2:c.T6C:p.G2G 0.76 0.96 0.65 0.78 0.75 0.55 0.7255 0.9207 0.6456 0.8003 0.7457 0.7333 0.7335 0.5792 0.8 0.92 0.74 0.76 . rs9785927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7223 0.9210 0.6576 0.7492 0.7989 0.7353 0.7375 0.7160 0.5796 0.7876 0.9166 0.6639 0.7384 0.8106 0.7309 0.7348 0.7312 hom 4523.76 154 X 200860 . T C 4523.76 Mask AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.76;MQ0=0;QD=29.38;VQSLOD=6.6201;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:154:99:4523,358,0 X 229542 229542 G A exonic GTPBP6 unknown UNKNOWN 0.49 0.39 0.55 0.53 0.41 0.63 0.4731 0.4273 0.6091 0.5349 0.4139 0.4189 0.4266 0.6162 0.41 0.41 0.41 0.47 . rs1140798 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4746 0.4244 0.5976 0.4309 0.5259 0.4069 0.4174 0.4429 0.6116 0.4303 0.4329 0.5901 0.4205 0.5210 0.3915 0.4175 0.4580 hom 941.46 31 X 229542 . G A 941.46 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8857;MQ=50.95;MQ0=0;QD=30.37;VQSLOD=2.2270;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:81.21:974,81,0 X 322161 322161 A G exonic PPP2R3B synonymous SNV PPP2R3B:NM_013239:exon2:c.T489C:p.D163D 0.6 0.71 0.65 0.57 0.61 0.45 0.5920 0.6856 0.6629 0.5869 0.5762 0.6011 0.6109 0.4579 0.63 0.68 0.6 0.6 . rs3813594 COSM5426176;COSM5426177 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5912 0.6896 0.6586 0.5918 0.5850 0.5709 0.5986 0.5811 0.4615 0.6244 0.6758 0.6232 0.5662 0.5898 0.5705 0.6140 0.5947 hom 2917.07 97 X 322161 . A G 2917.07 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4494;MQ=57.68;MQ0=0;QD=30.07;VQSLOD=5.7279;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2950,259,0 X 1331495 1331495 G C exonic CRLF2 synonymous SNV CRLF2:NM_022148:exon1:c.C33G:p.A11A 0.16 0.13 0.17 0.051 0.3 0.13 0.2141 0.1286 0.1574 0.0535 0.2679 0.2710 0.2483 0.1362 0.23 0.13 0.27 0.18 . rs140859855 COSM3694339 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2140 0.1223 0.1598 0.3232 0.0522 0.2747 0.2657 0.2391 0.1389 0.2078 0.1318 0.1906 0.3020 0.0553 0.2782 0.2486 0.2474 het 939.33 62 X 1331495 . G C 939.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.293;DP=62;Dels=0.00;FS=3.735;HRun=1;HaplotypeScore=0.9665;MQ=58.48;MQ0=0;MQRankSum=1.675;QD=15.15;ReadPosRankSum=1.104;VQSLOD=3.4564;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,39:62:99:969,0,542 X 1422868 1422868 G A exonic CSF2RA synonymous SNV CSF2RA:NM_001161532:exon9:c.G600A:p.V200V,CSF2RA:NM_001161530:exon10:c.G1101A:p.V367V,CSF2RA:NM_001161531:exon11:c.G999A:p.V333V,CSF2RA:NM_006140:exon11:c.G999A:p.V333V,CSF2RA:NM_172245:exon11:c.G999A:p.V333V,CSF2RA:NM_001161529:exon12:c.G999A:p.V333V 0.33 0.28 0.32 0.34 0.41 0.3 0.3715 0.2867 0.2937 0.3569 0.4378 0.4071 0.4108 0.3146 0.38 0.28 0.43 0.38 . rs28460440 COSM4002265;COSM4002266 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000155477.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3734 0.2845 0.2941 0.3656 0.3544 0.4505 0.4123 0.3812 0.3198 0.3738 0.2896 0.3170 0.4 0.3699 0.4301 0.4111 0.3957 het 2778.25 237 X 1422868 . G A 2778.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.980;DP=237;DS;Dels=0.00;FS=5.416;HRun=0;HaplotypeScore=8.1460;MQ=58.81;MQ0=0;MQRankSum=-0.352;QD=11.72;ReadPosRankSum=-0.445;VQSLOD=4.1046;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,105:237:99:2808,0,3666 X 1428421 1428421 G T exonic CSF2RA nonsynonymous SNV CSF2RA:NM_172246:exon11:c.G1073T:p.R358L . . . . . . 0.1198 0.3160 0.0958 0.1353 0.0747 0.0608 0.1134 0.2621 0.14 0.3 0.056 0.21 . rs28722602 COSM4002268 2(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000218760.1 MedGen CN169374 . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 N . . . 0.9 0.453 T 2.09 0.004 N 0.016 0.003 -0.974 0.364 T 0.000 0.000 T . . . 0.353 0.128 6.192 0.126 0.002 0.000 0.003 N . . . 0.948 0.277 . . . -0.685 0.107 -0.816 0.045 -0.288 0.083 0.000 0.063 0.000 0.016 . . . . . 0.1129 0.3161 0.1001 0.0442 0.1379 0.0702 0.0585 0.0938 0.2652 0.1390 0.3077 0.1110 0.0430 0.1302 0.0693 0.0635 0.1122 het 4188.48 250 X 1428421 . G T 4188.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.033;DP=250;DS;Dels=0.00;FS=1.551;HRun=0;HaplotypeScore=6.1804;MQ=58.63;MQ0=0;MQRankSum=0.631;QD=16.75;ReadPosRankSum=0.046;VQSLOD=4.3859;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:131,119:250:99:3513,0,3550 X 1471062 1471062 G C exonic IL3RA nonsynonymous SNV IL3RA:NM_001267713:exon3:c.G134C:p.S45T,IL3RA:NM_002183:exon5:c.G368C:p.S123T 0.002 0.0008 0.0043 . 0.006 . 0.0019 0.0004 0.0013 0.0001 0.0038 0.0027 0.0033 0.0001 0.0028 0.0007 0.004 . . rs17883572 . . . . . . . . . . . . . 0.645 0.058 T 0.97 0.550 D 0.719 0.530 P 0.000 0.004 U 1 0.090 N 0.62 0.158 N -1.65 0.826 D -0.12 0.107 N 0.141 0.491 -0.700 0.605 T 0.264 0.635 T 0.010 0.256 T -0.247 0.072 0.872 0.535 0.049 0.011 0.040 N . . . 0.095 0.162 . . . -1.72 0.076 -0.116 0.106 -1.238 0.015 0.536 0.270 0.001 0.043 2.603 0.045 Fibronectin type III|Immunoglobulin-like fold|Short hematopoietin receptor\x2c family 2\x2c conserved site|Type I cytokine receptor\x2c cytokine-binding domain . . 0.0022 0.0004 0.0029 0.0004 0.0001 0.0024 0.0032 0.0029 6.499e-05 0.0023 0.0011 0.0012 0 0 0.0049 0.0029 0.0010 het 1311.65 74 X 1471062 . G C 1311.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.764;DP=74;Dels=0.00;FS=5.300;HRun=1;HaplotypeScore=1.5774;MQ=59.44;MQ0=0;MQRankSum=-1.302;QD=17.72;ReadPosRankSum=-0.941;VQSLOD=3.1431;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,45:74:99:1342,0,794 X 1531648 1531648 C T exonic ASMTL nonsynonymous SNV ASMTL:NM_001173474:exon11:c.G1574A:p.R525K,ASMTL:NM_001173473:exon12:c.G1448A:p.R483K,ASMTL:NM_004192:exon12:c.G1622A:p.R541K 0.37 0.37 0.3 0.48 0.22 0.46 0.2788 0.3545 0.2960 0.4649 0.1265 0.2211 0.2411 0.4206 0.27 0.35 0.23 0.38 . rs1127297 COSM4002282;COSM4002281;COSM4002283 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.993 0.020 T 0.021 0.252 B 0.022 0.190 B 0.063 0.220 U 1.000 0.208 N . . . 1.75 0.262 T -0.08 0.082 N 0.054 0.130 -0.924 0.451 T 0.000 0.000 T . . . 0.972 0.187 10.50 0.913 0.200 0.033 0.082 N . . . 0.623 0.219 . . . 0.299 0.150 0.946 0.285 -0.324 0.076 0.780 0.292 0.000 0.016 4.805 0.126 O-methyltransferase\x2c family 2|S-adenosyl-L-methionine-dependent methyltransferase . . 0.2741 0.3547 0.2799 0.1831 0.4665 0.1277 0.2290 0.2496 0.4229 0.2639 0.3550 0.2613 0.1788 0.4765 0.1219 0.2252 0.2281 het 4375.77 237 X 1531648 . C T 4375.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.903;DP=237;DS;Dels=0.00;FS=4.833;HRun=1;HaplotypeScore=8.5143;MQ=59.19;MQ0=0;MQRankSum=1.439;QD=18.46;ReadPosRankSum=1.201;VQSLOD=3.1231;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:103,133:237:99:3749,0,2881 X 1537002 1537002 C G exonic ASMTL synonymous SNV ASMTL:NM_001173474:exon10:c.G1338C:p.T446T,ASMTL:NM_001173473:exon11:c.G1212C:p.T404T,ASMTL:NM_004192:exon11:c.G1386C:p.T462T 0.67 0.37 0.72 0.83 0.69 0.86 0.6983 0.3988 0.7315 0.8136 0.6626 0.6934 0.6954 0.8322 0.6 0.42 0.7 0.58 . rs6644873 COSM3363912;COSM1331173 1(ovary);1(haematopoietic_and_lymphoid_tissue);2(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7005 0.3971 0.7187 0.6767 0.8114 0.6570 0.6951 0.6908 0.8323 0.6102 0.4037 0.6675 0.6523 0.8031 0.6450 0.6913 0.7002 hom 1940.99 58 X 1537002 . C G 1940.99 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.60;MQ0=0;QD=33.47;VQSLOD=7.8723;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1974,159,0 X 1537881 1537881 C T exonic ASMTL nonsynonymous SNV ASMTL:NM_001173474:exon9:c.G1324A:p.V442M,ASMTL:NM_001173473:exon10:c.G1198A:p.V400M,ASMTL:NM_004192:exon10:c.G1372A:p.V458M 0.27 0.31 0.31 0.22 0.22 0.27 0.2727 0.2971 0.3490 0.2210 0.2660 0.2622 0.2726 0.2768 0.26 0.27 0.25 0.25 . rs4503285 COSM3363918;COSM3363917 1(kidney);1(large_intestine) . . . . . . . . . . . 0.056 0.403 T 0.973 0.592 D 0.509 0.461 P 0.010 0.301 U 1 0.090 N . . . 0.94 0.437 T 0.23 0.049 N 0.111 0.163 -1.002 0.295 T 0.000 0.000 T . . . 3.090 0.431 22.5 0.983 0.396 0.240 0.220 N . . . 1.000 0.424 . . . 0.547 0.163 0.547 0.228 -1.502 0.010 1.000 0.715 0.217 0.221 2.904 0.053 O-methyltransferase\x2c family 2|S-adenosyl-L-methionine-dependent methyltransferase . . 0.2690 0.2918 0.3398 0.2998 0.2148 0.2479 0.2534 0.2549 0.2751 0.2536 0.2897 0.2971 0.3179 0.2052 0.2503 0.2345 0.2582 het 251.49 24 X 1537881 . C T 251.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.738;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.811;QD=10.48;ReadPosRankSum=2.839;VQSLOD=8.6335;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,11:24:99:281,0,311 X 1546792 1546792 G A exonic ASMTL synonymous SNV ASMTL:NM_001173474:exon6:c.C684T:p.G228G,ASMTL:NM_001173473:exon7:c.C558T:p.G186G,ASMTL:NM_004192:exon7:c.C732T:p.G244G 0.7 0.45 0.72 0.85 0.7 0.85 0.7131 0.4892 0.7401 0.8305 0.6771 0.7052 0.7047 0.8118 0.63 0.5 0.7 0.61 . rs5949099 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7125 0.4864 0.7298 0.6812 0.8264 0.6727 0.7036 0.7022 0.8143 0.6409 0.4914 0.6839 0.6833 0.8164 0.6721 0.6933 0.7173 hom 3149.62 115 X 1546792 . G A 3149.62 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.55;MQ0=0;QD=27.39;VQSLOD=5.4833;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,112:115:99:3183,294,0 X 1546876 1546876 A G exonic ASMTL synonymous SNV ASMTL:NM_001173474:exon6:c.T600C:p.R200R,ASMTL:NM_001173473:exon7:c.T474C:p.R158R,ASMTL:NM_004192:exon7:c.T648C:p.R216R 0.71 0.5 0.72 0.86 0.7 0.86 0.7168 0.5285 0.7417 0.8386 0.6715 0.7043 0.7056 0.8155 0.64 0.54 0.69 0.66 . rs5948863 COSM3363922;COSM3363921 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7154 0.5249 0.7346 0.6857 0.8357 0.6666 0.7017 0.7033 0.8178 0.6520 0.5304 0.6838 0.6821 0.8247 0.6670 0.6938 0.7182 hom 2996.03 87 X 1546876 . A G 2996.03 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.52;MQ0=0;QD=34.44;VQSLOD=8.1267;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:3029,244,0 X 1713021 1713021 C T exonic AKAP17A synonymous SNV AKAP17A:NM_005088:exon2:c.C666T:p.R222R 0.56 0.58 0.51 0.53 0.59 0.57 0.5414 0.5577 0.3868 0.5525 0.6209 0.5526 0.5778 0.5548 0.54 0.55 0.53 0.64 . rs6644621 COSM3694485;COSM3694486 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5387 0.5584 0.4078 0.5346 0.5508 0.6183 0.5514 0.5548 0.5596 0.5607 0.5432 0.4547 0.5397 0.5478 0.6187 0.5632 0.5888 het 1874.88 146 X 1713021 . C T 1874.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.272;DP=146;Dels=0.00;FS=6.239;HRun=0;HaplotypeScore=5.3145;MQ=59.30;MQ0=0;MQRankSum=2.312;QD=12.84;ReadPosRankSum=0.097;VQSLOD=2.6139;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,74:146:99:1905,0,1791 X 2161129 2161129 C G exonic DHRSX nonsynonymous SNV DHRSX:NM_145177:exon6:c.G739C:p.V247L 0.57 0.81 0.61 0.24 0.64 0.45 0.6434 0.8167 0.6350 0.2345 0.4605 0.7210 0.6189 0.5145 0.76 0.81 0.73 0.69 . rs1127915 COSM4419609 7(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.003 0.102 B 0.0 0.013 B 0.000 0.629 N 1 0.090 N -2.96 0.000 N 2.23 0.181 T 1.73 0.006 N 0.029 0.010 -0.903 0.477 T 0.000 0.000 T . . . -0.040 0.090 2.216 0.169 0.005 0.012 0.042 N . . . 1.000 0.408 . . . 1.45 0.216 4.834 0.622 -0.072 0.120 1.000 0.715 0.034 0.151 9.538 0.382 NAD(P)-binding domain . . 0.6341 0.8204 0.6329 0.6374 0.2407 0.4607 0.7360 0.6457 0.5168 0.6742 0.8140 0.6727 0.6333 0.2394 0.4587 0.6979 0.5654 hom 4442.76 135 X 2161129 . C G 4442.76 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5134;MQ=59.72;MQ0=0;QD=32.91;VQSLOD=6.7461;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4442,346,0 X 2408437 2408437 G A exonic ZBED1 synonymous SNV ZBED1:NM_001171135:exon2:c.C324T:p.D108D,ZBED1:NM_001171136:exon2:c.C324T:p.D108D,ZBED1:NM_004729:exon2:c.C324T:p.D108D 0.2 0.06 0.18 0.18 0.26 0.34 0.2472 0.0941 0.1512 0.1722 0.2812 0.2754 0.2302 0.3231 0.22 0.11 0.28 0.13 . rs3752331 COSM4419789;COSM1319460 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2472 0.0911 0.1637 0.2107 0.1634 0.2730 0.2853 0.2312 0.3204 0.2108 0.0966 0.1914 0.22 0.1599 0.2873 0.2624 0.2648 hom 3801.30 115 X 2408437 . G A 3801.30 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1577;MQ=59.84;MQ0=0;QD=33.05;VQSLOD=6.7705;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3801,313,0 X 2632482 2632482 C T exonic CD99 synonymous SNV CD99:NM_001122898:exon2:c.C87T:p.S29S,CD99:NM_001321367:exon2:c.C87T:p.S29S,CD99:NM_001321368:exon2:c.C87T:p.S29S,CD99:NM_001321369:exon2:c.C87T:p.S29S,CD99:NM_001321370:exon2:c.C87T:p.S29S,CD99:NM_002414:exon2:c.C87T:p.S29S 0.31 0.033 0.37 0.37 0.53 0.38 0.4093 0.0965 0.3877 0.3645 0.4611 0.4675 0.4130 0.3886 0.37 0.1 0.5 0.21 . rs1136447 COSM3681747 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4174 0.0925 0.3838 0.4225 0.3693 0.4384 0.4830 0.4336 0.3845 0.3608 0.1119 0.4243 0.4 0.3708 0.4400 0.4773 0.4308 hom 7135.84 249 X 2632482 . C T 7135.84 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.36;MQ0=0;QD=28.66;VQSLOD=8.2811;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7135,524,0 X 2777985 2777985 C T exonic GYG2 nonsynonymous SNV GYG2:NM_001184704:exon6:c.C251T:p.A84V,GYG2:NM_001079855:exon7:c.C716T:p.A239V,GYG2:NM_001184702:exon7:c.C716T:p.A239V,GYG2:NM_001184703:exon8:c.C809T:p.A270V,GYG2:NM_003918:exon8:c.C809T:p.A270V 0.58 0.28 0.61 0.8 0.72 0.59 0.7016 0.3543 0.6741 0.8231 0.7152 0.7678 0.7214 0.6093 0.61 0.36 0.75 0.41 0.66 rs2306734 . . Benign not_specified RCV000430610.1 MedGen CN169374 . . . . . . 0.388 0.109 T 0.001 0.429 B 0.001 0.322 B 0.040 0.019 N 1 0.090 P 0.55 0.145 N -0.04 0.633 T -0.99 0.262 N 0.023 0.319 -0.945 0.418 T 0.000 0.000 T . . . 0.305 0.123 5.745 0.890 0.178 0.030 0.077 N . . . 0.997 0.349 . . . -2.74 0.056 0.403 0.206 -0.548 0.048 0.009 0.180 0.000 0.016 6.780 0.227 Nucleotide-diphospho-sugar transferases . . 0.6836 0.3308 0.6445 0.8088 0.8102 0.6679 0.7450 0.7147 0.5776 0.6186 0.3442 0.6535 0.8516 0.7970 0.6608 0.7345 0.6591 hom 539.04 16 X 2777985 . C T 539.04 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.69;VQSLOD=13.6675;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:48.14:572,48,0 X 2779570 2779570 A G exonic GYG2 nonsynonymous SNV GYG2:NM_001184704:exon7:c.A380G:p.H127R,GYG2:NM_001079855:exon8:c.A845G:p.H282R,GYG2:NM_001184702:exon8:c.A845G:p.H282R,GYG2:NM_001184703:exon9:c.A938G:p.H313R,GYG2:NM_003918:exon9:c.A938G:p.H313R 0.58 0.28 0.59 0.81 0.7 0.6 0.6678 0.3442 0.6435 0.8128 0.6839 0.7237 0.6838 0.5922 0.59 0.37 0.72 0.41 0.6 rs2306735 . . Benign not_specified RCV000441321.1 MedGen CN169374 . . . . . . 0.801 0.031 T 0.0 0.026 B 0.0 0.040 B 0.000 0.003 N 1 0.090 P 0 0.065 N 1.05 0.400 T 0.19 0.050 N 0.009 0.185 -0.930 0.442 T 0.000 0.000 T . . . -3.395 0.000 0.001 0.161 0.004 0.002 0.012 N . . . 1.000 0.747 . . . -2.43 0.061 -1.428 0.025 -2.520 0.003 0.000 0.063 0.000 0.016 0.392 0.004 Nucleotide-diphospho-sugar transferases . . 0.6655 0.3314 0.6307 0.7507 0.8100 0.6662 0.7182 0.6894 0.5730 0.6045 0.3445 0.6432 0.8142 0.7912 0.6570 0.7087 0.6577 hom 440.75 16 X 2779570 . A G 440.75 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=27.55;VQSLOD=7.5215;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.10:474,39,0 X 2832742 2832742 G C exonic ARSD nonsynonymous SNV ARSD:NM_009589:exon7:c.C1073G:p.T358R 0.75 0.89 0.75 0.9 0.56 0.58 0.6451 0.8489 0.7351 0.9086 0.5953 0.5797 0.5972 0.5528 0.71 0.86 0.63 0.59 0.61 rs211648 COSN23987745;COSN19646150 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7392 0.8875 0.7814 0.7161 0.9306 0.6939 0.6781 0.6920 0.7319 0.7475 0.9079 0.8071 0.6959 0.9508 0.6924 0.6447 0.6883 hom 6038.61 189 X 2832742 . G C 6038.61 Mask AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7317;MQ=55.51;MQ0=0;QD=31.95;VQSLOD=4.1241;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,189:189:99:6037,487,0 X 2835863 2835863 G T exonic ARSD nonsynonymous SNV ARSD:NM_001669:exon5:c.C845A:p.A282D,ARSD:NM_009589:exon5:c.C845A:p.A282D . . . . . . 0.1017 0.0658 0.0744 0.1030 0.1435 0.1098 0.1213 0.0975 . . . . 0.11 rs78034736 COSM1319458 2(haematopoietic_and_lymphoid_tissue);9(upper_aerodigestive_tract) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.993 0.797 D 0.001 0.411 U 0.000 0.588 P 4.085 0.973 H -3.86 0.959 D -5.43 0.853 D 0.757 0.751 -0.813 0.544 T 0.163 0.499 T . . . 5.246 0.709 25.6 0.995 0.690 0.926 0.558 D . . . 1.0 0.983 . . . 3.36 0.374 4.494 0.598 0.620 0.289 1.000 0.715 0.032 0.149 14.320 0.659 Alkaline phosphatase-like\x2c alpha/beta/alpha|Alkaline-phosphatase-like\x2c core domain|Sulfatase\x2c N-terminal . . 6.192e-05 0 5.052e-05 0 0.0001 0 6.07e-05 0 0.0003 0.0004 0.0005 0.0024 0 0 0 0.0003 0 het 743.78 63 X 2835863 . G T 743.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.492;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.73;MQ0=0;MQRankSum=-2.564;QD=11.81;ReadPosRankSum=-1.285;VQSLOD=4.0749;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:32,31:63:99:774,0,921 X 2835964 2835964 G A exonic ARSD synonymous SNV ARSD:NM_001669:exon5:c.C744T:p.F248F,ARSD:NM_009589:exon5:c.C744T:p.F248F . . . . . . 0.0045 0.0044 0.0022 0.0039 0.0101 0.0049 0.0083 0.0024 . . . . 0.057 rs73632972 COSM3363957 1(haematopoietic_and_lymphoid_tissue);1(kidney);1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0 0 0 0 0 0 0 0 0 0.0006 0.0008 0.0024 0 0 0.0011 0.0003 0 het 362.24 54 X 2835964 . G A 362.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.719;DP=54;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=56.19;MQ0=0;MQRankSum=-0.348;QD=6.71;ReadPosRankSum=-1.101;VQSLOD=3.9964;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:39,15:54:99:392,0,1037 X 2836184 2836184 C T exonic ARSD nonsynonymous SNV ARSD:NM_001669:exon5:c.G524A:p.G175D,ARSD:NM_009589:exon5:c.G524A:p.G175D . . . . . . 0.0427 0.0298 0.0287 0.0332 0.0543 0.0381 0.0481 0.0836 . . . . 0.033 rs73632976 COSM1636496 1(urinary_tract);1(liver);9(upper_aerodigestive_tract) . . . . . . . . . . . 0.017 0.512 D 0.931 0.585 P 0.873 0.609 P 0.000 0.843 U 0.000 0.588 P 3.21 0.895 M -3.76 0.956 D -6.7 0.925 D 0.845 0.832 -0.140 0.792 T 0.511 0.816 D . . . 5.826 0.798 27.2 0.998 0.899 0.844 0.432 D . . . 1.000 0.747 . . . 3.47 0.387 4.906 0.628 0.557 0.284 1.000 0.715 0.913 0.390 14.531 0.674 Alkaline phosphatase-like\x2c alpha/beta/alpha|Alkaline-phosphatase-like\x2c core domain|Sulfatase\x2c N-terminal . . 6.512e-05 0.0001 5.185e-05 0 0 9.974e-05 8.568e-05 0 0 0.0006 0.0008 0.0024 0 0 0.0011 0.0003 0 het 139.93 14 X 2836184 . C T 139.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.067;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9987;MQ=53.03;MQ0=0;MQRankSum=-1.406;QD=10.00;ReadPosRankSum=-1.936;VQSLOD=3.0502;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:170,0,170 X 2942109 2942109 T C exonic ARSH synonymous SNV ARSH:NM_001011719:exon6:c.T949C:p.L317L 0.75 0.6 0.76 0.97 0.64 0.82 0.7108 0.6090 0.8289 0.9760 0.6915 0.6479 0.6937 0.8197 0.63 0.61 0.65 0.53 0.62 rs5939407 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7122 0.6041 0.8134 0.6367 0.9738 0.6763 0.6463 0.6697 0.8094 0.6683 0.6155 0.8074 0.6685 0.9723 0.6710 0.6584 0.6716 hom 704.03 22 X 2942109 . T C 704.03 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;QD=32.00;VQSLOD=8.7647;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:57.18:737,57,0 X 3002687 3002687 A G exonic ARSF synonymous SNV ARSF:NM_001201538:exon6:c.A810G:p.E270E,ARSF:NM_001201539:exon6:c.A810G:p.E270E,ARSF:NM_004042:exon6:c.A810G:p.E270E 0.79 0.79 0.73 0.91 0.63 0.89 0.7191 0.7869 0.7201 0.9195 0.6240 0.6620 0.7153 0.8798 0.7 0.78 0.66 0.52 0.64 rs5983003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7127 0.7851 0.7207 0.7406 0.9168 0.6138 0.6555 0.6929 0.8694 0.6984 0.7905 0.7333 0.7355 0.9061 0.6243 0.6452 0.6598 hom 1436.86 44 X 3002687 . A G 1436.86 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;QD=32.66;VQSLOD=9.6559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1470,117,0 X 3592725 3592725 G A exonic PRKX synonymous SNV PRKX:NM_005044:exon2:c.C249T:p.P83P 0.46 0.34 0.65 0.37 0.57 0.44 0.5482 0.3616 0.6809 0.3530 0.5607 0.5962 0.5482 0.4777 0.5 0.38 0.57 0.33 0.52 rs10871864 COSM1467793 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5569 0.3553 0.6828 0.6942 0.3445 0.5578 0.5861 0.5794 0.4734 0.4978 0.3433 0.6634 0.6413 0.3384 0.5281 0.5755 0.5537 hom 3724.76 120 X 3592725 . G A 3724.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.696;DP=120;Dels=0.00;FS=3.455;HRun=0;HaplotypeScore=2.9696;MQ=50.61;MQ0=3;MQRankSum=-0.785;QD=31.04;ReadPosRankSum=0.844;VQSLOD=3.2640;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,119:120:99:3686,256,0 X 5821786 5821786 G A exonic NLGN4X synonymous SNV NLGN4X:NM_001282146:exon5:c.C933T:p.T311T,NLGN4X:NM_020742:exon5:c.C933T:p.T311T,NLGN4X:NM_181332:exon5:c.C933T:p.T311T,NLGN4X:NM_001282145:exon6:c.C933T:p.T311T 0.12 0.19 0.076 0.11 0.11 0.078 0.1137 0.1844 0.0390 0.1062 0.1015 0.1229 0.1106 0.0899 0.14 0.18 0.12 0.076 0.11 rs7049300 . . other not_specified RCV000082041.7 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1077 0.1860 0.0411 0.0929 0.1081 0.1109 0.1232 0.1100 0.0871 0.1313 0.1822 0.0710 0.0842 0.1013 0.1049 0.1190 0.1046 hom 4230.92 145 X 5821786 . G A 4230.92 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.266;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8248;MQ=50.54;MQ0=8;MQRankSum=0.468;QD=29.18;ReadPosRankSum=-0.139;VQSLOD=3.6805;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,142:145:99:4193,309,0 X 6995315 6995315 C T exonic PUDP synonymous SNV PUDP:NM_001178135:exon3:c.G456A:p.P152P,PUDP:NM_001178136:exon3:c.G327A:p.P109P,PUDP:NM_012080:exon3:c.G456A:p.P152P,PUDP:NM_001135565:exon4:c.G525A:p.P175P 0.66 0.74 0.69 0.6 0.55 0.73 0.6720 0.7513 0.6624 0.6416 0.5774 0.6484 0.6834 0.7746 0.64 0.74 0.59 0.5 . rs2379206 COSM4156990;COSM4156991;COSM4156989 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6164 0.7218 0.6248 0.6276 0.5878 0.5420 0.5835 0.6151 0.7526 0.6323 0.7238 0.6284 0.6077 0.6056 0.5455 0.6051 0.6475 hom 735.84 21 X 6995315 . C T 735.84 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.04;VQSLOD=13.7105;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:60.18:769,60,0 X 8138080 8138080 G C exonic VCX2 nonsynonymous SNV VCX2:NM_016378:exon3:c.C413G:p.T138S 0.89 0.96 0.91 0.97 0.82 0.79 0.8437 0.9494 0.9359 0.9550 0.7746 0.8024 0.8303 0.8202 0.86 0.94 0.81 0.58 0.78 rs1058239 COSM4157031 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.002 0.090 B 0.0 0.013 B . . . 1 0.090 P 0.46 0.130 N 2.45 0.150 T 0.81 0.018 N 0.014 0.002 -0.973 0.365 T 0.000 0.000 T . . . -1.560 0.015 0.002 0.066 0.000 0.000 0.001 N . . . 0.000 0.029 . . . 0.189 0.143 -1.219 0.031 -0.675 0.039 0.000 0.063 0.001 0.043 . . . . . 0.8443 0.9526 0.9360 0.7785 0.9564 0.7756 0.8043 0.8385 0.8215 0.8454 0.9506 0.9256 0.8092 0.9476 0.7659 0.7973 0.8259 hom 2060.70 81 X 8138080 . G C 2060.70 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42.05;MQ0=2;QD=25.44;VQSLOD=2.8126;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2094,168,0 X 9859098 9859098 A G exonic SHROOM2 synonymous SNV SHROOM2:NM_001649:exon3:c.A399G:p.P133P 0.86 0.62 0.91 0.99 0.92 0.96 0.9304 0.6953 0.9646 0.9965 0.9529 0.9471 0.9443 0.9631 0.84 0.67 0.94 0.63 0.74 rs6640543 COSM4157054 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9296 0.6648 0.9575 0.9218 0.9959 0.9417 0.9399 0.9255 0.9605 0.8739 0.6800 0.9499 0.9459 0.9990 0.9531 0.9414 0.9235 hom 468.32 16 X 9859098 . A G 468.32 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.27;VQSLOD=13.0438;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:42.12:501,42,0 X 10085674 10085674 T C exonic WWC3 synonymous SNV WWC3:NM_015691:exon11:c.T1575C:p.D525D 0.96 1. 0.94 1. 0.87 0.97 0.9301 0.9838 0.9622 0.9998 0.9013 0.8952 0.9211 0.9635 0.91 0.98 0.87 0.67 0.31 rs6530368 COSM4156479 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9121 0.9818 0.9547 0.9208 0.9996 0.8769 0.8626 0.8989 0.9557 0.9047 0.9820 0.9534 0.9521 1 0.8689 0.8578 0.8850 hom 284.27 10 X 10085674 . T C 284.27 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.16;MQ0=0;QD=28.43;VQSLOD=7.3512;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,9:10:27.08:317,27,0 X 11157535 11157535 G C exonic ARHGAP6 nonsynonymous SNV ARHGAP6:NM_001287242:exon13:c.C1833G:p.D611E,ARHGAP6:NM_013423:exon13:c.C1764G:p.D588E,ARHGAP6:NM_013427:exon13:c.C2373G:p.D791E 0.16 0.2 0.15 0.018 0.23 0.17 0.2712 0.2984 0.1492 0.0108 0.3107 0.3361 0.3320 0.2378 0.21 0.19 0.22 0.22 0.098 rs1009758 COSM456518 1(large_intestine) . . . . . . . . . . . 0.251 0.208 T 0.004 0.112 B 0.003 0.080 B 0.007 0.315 N 1 0.371 P 0.77 0.194 N 1.89 0.239 T -0.12 0.088 N 0.049 0.030 -0.962 0.389 T 0.000 0.000 T . . . -0.207 0.075 1.059 0.927 0.216 0.149 0.185 N . . . 0.991 0.323 . . . 1.18 0.200 0.348 0.196 0.095 0.197 0.036 0.206 0.677 0.304 4.052 0.092 Rho GTPase activation protein|Rho GTPase-activating protein domain . . 0.1854 0.1972 0.1211 0.2940 0.0061 0.2117 0.2257 0.1931 0.1722 0.2000 0.1834 0.1099 0.2967 0.0086 0.2037 0.2315 0.2065 hom 608.29 21 X 11157535 . G C 608.29 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.97;VQSLOD=13.1048;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:51.16:641,51,0 X 11316742 11316742 C T exonic AMELX synonymous SNV AMELX:NM_182681:exon4:c.C171T:p.H57H,AMELX:NM_001142:exon5:c.C219T:p.H73H,AMELX:NM_182680:exon6:c.C261T:p.H87H 0.16 0.28 0.11 0.02 0.22 0.13 0.1998 0.2857 0.0893 0.0252 0.2888 0.2285 0.2231 0.1666 0.25 0.29 0.22 0.11 0.25 rs2106416 COSM3759330 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign not_specified RCV000250301.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1939 0.2877 0.0985 0.2425 0.0243 0.2884 0.2200 0.1946 0.1717 0.2425 0.2801 0.0864 0.2360 0.0188 0.2810 0.2439 0.2418 hom 5427.70 181 X 11316742 . C T 5427.70 Mask AC=2;AF=1.00;AN=2;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=58.55;MQ0=0;QD=29.99;VQSLOD=8.0730;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,178:181:99:5427,451,0 X 12906030 12906030 G A exonic TLR7 synonymous SNV TLR7:NM_016562:exon3:c.G2403A:p.T801T 0.11 0.24 0.095 0.0052 0.11 0.06 0.0857 0.2397 0.0414 0.0036 0.0438 0.0884 0.0964 0.0561 0.14 0.23 0.095 0.098 0.049 rs864058 COSM1465504 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0794 0.2389 0.0485 0.1023 0.0044 0.0487 0.0862 0.0937 0.0572 0.1100 0.2294 0.0565 0.1061 0.0049 0.0466 0.0765 0.0663 hom 2731.78 80 X 12906030 . G A 2731.78 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=34.15;VQSLOD=9.0677;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2765,220,0 X 12924826 12924826 A G exonic TLR8 startloss TLR8:NM_138636:exon1:c.A1G:p.E2_M4del 0.46 0.29 0.42 0.81 0.27 0.58 0.3579 0.2719 0.5468 0.8178 0.2156 0.2594 0.3345 0.5407 0.25 0.26 0.25 0.3 0.28 rs3764880 COSM3759356 8(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.215 P . . . 1.64 0.278 T 0.06 0.063 N 0.026 0.008 -0.940 0.426 T 0.000 0.000 T . . . -3.642 0.000 0.001 0.241 0.010 0.001 0.007 N . . . 1.000 0.517 . . . -3.64 0.042 -0.617 0.056 -3.539 0.001 0.000 0.063 0.000 0.016 1.707 0.027 . . . 0.3068 0.2494 0.4967 0.3213 0.7988 0.2004 0.2312 0.2916 0.4582 0.2830 0.2805 0.5090 0.3880 0.8354 0.2157 0.2311 0.3034 hom 1121.68 39 X 12924826 . A G 1121.68 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.04;MQ0=0;QD=28.76;VQSLOD=8.3759;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:93.26:1155,93,0 X 12937513 12937513 C T exonic TLR8 synonymous SNV TLR8:NM_138636:exon2:c.C354T:p.D118D,TLR8:NM_016610:exon3:c.C408T:p.D136D 0.37 0.17 0.29 0.76 0.17 0.52 0.2722 0.1551 0.3545 0.7615 0.1389 0.1799 0.2480 0.4718 0.16 0.14 0.17 0.21 0.2 rs2159377 COSM3759357 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2754 0.1459 0.3527 0.1960 0.7596 0.1464 0.1800 0.2398 0.4703 0.1973 0.1580 0.3111 0.1685 0.7766 0.1554 0.1672 0.2079 hom 3570.98 117 X 12937513 . C T 3570.98 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8452;MQ=59.09;MQ0=0;QD=30.52;VQSLOD=9.0363;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3570,283,0 X 12937804 12937804 C T exonic TLR8 synonymous SNV TLR8:NM_138636:exon2:c.C645T:p.H215H,TLR8:NM_016610:exon3:c.C699T:p.H233H 0.68 0.81 0.68 0.81 0.37 0.67 0.5223 0.7652 0.6853 0.7988 0.4143 0.3969 0.5047 0.6296 0.52 0.75 0.39 0.46 0.54 rs5744080 COSM150765 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5215 0.7720 0.6795 0.4643 0.7985 0.4212 0.3878 0.5043 0.6270 0.5387 0.7879 0.6480 0.4920 0.8198 0.4359 0.3962 0.4839 hom 1758.86 57 X 12937804 . C T 1758.86 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58.35;MQ0=0;QD=30.86;VQSLOD=8.3822;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1792,141,0 X 12939112 12939112 G C exonic TLR8 synonymous SNV TLR8:NM_138636:exon2:c.G1953C:p.L651L,TLR8:NM_016610:exon3:c.G2007C:p.L669L 0.72 0.95 0.69 0.81 0.38 0.69 0.5418 0.8989 0.6913 0.8037 0.4261 0.4003 0.5167 0.6548 0.57 0.88 0.39 0.5 0.54 rs2407992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5378 0.9071 0.6870 0.4672 0.8055 0.4308 0.3905 0.5117 0.6538 0.5739 0.9070 0.6601 0.4775 0.8286 0.4421 0.3986 0.4909 hom 1152.46 36 X 12939112 . G C 1152.46 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=32.01;VQSLOD=9.0457;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.28:1185,93,0 X 12939412 12939412 C A exonic TLR8 synonymous SNV TLR8:NM_138636:exon2:c.C2253A:p.I751I,TLR8:NM_016610:exon3:c.C2307A:p.I769I 0.54 0.38 0.62 0.81 0.32 0.67 0.4466 0.3764 0.6478 0.7996 0.3575 0.3433 0.4525 0.6178 0.36 0.38 0.34 0.3 0.43 rs3747414 COSM150766 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4563 0.3695 0.6426 0.3604 0.8001 0.3711 0.3403 0.4318 0.6168 0.3911 0.3845 0.5958 0.3514 0.8166 0.3778 0.3452 0.3997 hom 2045.81 62 X 12939412 . C A 2045.81 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=33.00;VQSLOD=9.5259;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:2079,166,0 X 12939928 12939928 T C exonic TLR8 synonymous SNV TLR8:NM_138636:exon2:c.T2769C:p.D923D,TLR8:NM_016610:exon3:c.T2823C:p.D941D 1. 1. 1. 1. 1. 1. 0.9979 0.9998 0.9990 1 0.9943 0.9970 0.9984 0.9998 1. 1. 1. 0.74 1. rs2109135 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9976 0.9994 0.9986 0.9946 1 0.9951 0.9969 0.9978 0.9998 0.9965 0.9997 0.9952 0.9947 1 0.9951 0.9954 0.9889 hom 2043.13 65 X 12939928 . T C 2043.13 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9973;MQ=58.48;MQ0=0;QD=31.43;VQSLOD=7.9115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,64:65:99:2076,160,0 X 13681115 13681115 C T exonic TCEANC nonsynonymous SNV TCEANC:NM_001297564:exon3:c.C488T:p.S163L,TCEANC:NM_152634:exon4:c.C578T:p.S193L,TCEANC:NM_001297563:exon5:c.C488T:p.S163L 0.56 0.42 0.53 0.65 0.51 0.72 0.5524 0.4073 0.5373 0.6360 0.5609 0.5385 0.5570 0.6880 0.49 0.4 0.54 0.41 . rs2361159 COSM3759372;COSM3759373;COSM3759374 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.219 0.190 T 0.78 0.432 P 0.131 0.313 B 0.980 0.078 N 1 0.090 P 2.005 0.547 M 1.05 0.400 T -2.55 0.551 D 0.027 0.181 -0.917 0.460 T 0.000 0.000 T . . . 0.384 0.131 6.473 0.674 0.081 0.117 0.166 N . . . 1.000 0.458 . . . 1.06 0.193 0.629 0.241 0.069 0.176 0.000 0.063 0.018 0.130 4.134 0.096 Transcription elongation factor S-II\x2c central domain . . 0.5511 0.4057 0.5273 0.4917 0.637 0.5589 0.5399 0.5449 0.6837 0.5112 0.4030 0.5388 0.4674 0.6554 0.5569 0.5422 0.5644 hom 2968.65 96 X 13681115 . C T 2968.65 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.5784;MQ=59.42;MQ0=0;QD=30.92;VQSLOD=9.0418;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3002,232,0 X 15381421 15381421 C T exonic VEGFD synonymous SNV VEGFD:NM_004469:exon2:c.G111A:p.L37L 0.12 0.28 0.04 0.011 0.043 0.13 0.0638 0.2279 0.0218 0.0091 0.0405 0.0399 0.0354 0.1262 0.11 0.23 0.04 0.098 0.098 rs12011065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0571 0.2341 0.0233 0.0216 0.0108 0.0371 0.0406 0.0417 0.1252 0.0861 0.2160 0.0212 0.0212 0.0097 0.0388 0.0405 0.0578 hom 1236.50 41 X 15381421 . C T 1236.50 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6483;MQ=57.94;MQ0=0;QD=30.16;VQSLOD=8.0545;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1270,102,0 X 15415583 15415583 C T exonic PIR synonymous SNV PIR:NM_001018109:exon8:c.G681A:p.Q227Q,PIR:NM_003662:exon8:c.G681A:p.Q227Q 0.44 0.29 0.49 0.47 0.57 0.43 0.5363 0.3265 0.5141 0.4866 0.6530 0.5875 0.5902 0.4682 0.49 0.33 0.58 0.33 0.61 rs8094 COSM150767 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5402 0.3138 0.5176 0.5150 0.4894 0.6545 0.5875 0.5390 0.4641 0.5254 0.3139 0.4876 0.5435 0.4970 0.6480 0.6120 0.5975 hom 1420.39 41 X 15415583 . C T 1420.39 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.26;MQ0=0;QD=34.64;VQSLOD=8.8399;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1453,111,0 X 16168467 16168467 T C exonic GRPR synonymous SNV GRPR:NM_005314:exon2:c.T453C:p.S151S 0.28 0.3 0.28 0.16 0.33 0.29 0.3003 0.3302 0.2735 0.1270 0.2564 0.3259 0.3084 0.3119 0.34 0.33 0.34 0.18 0.38 rs4986945 COSM3759437 1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2983 0.3285 0.2690 0.3281 0.1291 0.2533 0.3335 0.3148 0.3112 0.3041 0.3290 0.2866 0.2983 0.1198 0.2390 0.3271 0.2875 hom 2604.37 86 X 16168467 . T C 2604.37 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.162;DP=86;Dels=0.00;FS=4.523;HRun=1;HaplotypeScore=0.9973;MQ=59.17;MQ0=0;MQRankSum=-0.346;QD=30.28;ReadPosRankSum=-1.406;VQSLOD=3.7149;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,85:86:99:2637,172,0 X 16168677 16168677 T C exonic GRPR synonymous SNV GRPR:NM_005314:exon2:c.T663C:p.I221I 0.39 0.69 0.31 0.17 0.34 0.32 0.3395 0.6716 0.2907 0.1293 0.2573 0.3288 0.3296 0.3304 0.46 0.66 0.35 0.29 0.39 rs4986946 COSM3759438 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3300 0.6848 0.2883 0.3355 0.1324 0.2542 0.3362 0.3370 0.3297 0.4050 0.6890 0.3144 0.3459 0.1208 0.2374 0.3304 0.3135 hom 3011.17 93 X 16168677 . T C 3011.17 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9954;MQ=59.25;MQ0=0;QD=32.38;VQSLOD=9.5783;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3044,241,0 X 17819377 17819377 T C exonic RAI2 nonsynonymous SNV RAI2:NM_021785:exon2:c.A754G:p.M252V,RAI2:NM_001172732:exon3:c.A604G:p.M202V,RAI2:NM_001172739:exon3:c.A754G:p.M252V,RAI2:NM_001172743:exon3:c.A754G:p.M252V 1. 1. 1. 1. 1. 1. 0.9993 0.9999 0.9998 1 0.9982 0.9991 1 0.9992 1. 1. 1. 0.74 0.95 rs6527818 COSM4156765 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.340 N 1.000 0.203 P -1.95 0.002 N 1.79 0.266 T 1.33 0.020 N 0.044 0.222 -0.956 0.399 T 0.000 0.000 T . . . -0.659 0.047 0.090 0.833 0.142 0.086 0.143 N . . . 1.000 0.747 . . . 5.29 0.743 1.523 0.353 0.068 0.175 0.918 0.317 0.930 0.404 8.065 0.296 . . . 0.9994 0.9998 0.9998 1 1 0.9985 0.9992 0.9985 0.9996 0.9997 1 1 1 1 0.9989 0.9997 1 hom 1970.96 64 X 17819377 . T C 1970.96 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;QD=30.80;VQSLOD=9.2555;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2004,156,0 X 19379640 19379640 G C exonic MAP3K15 nonsynonymous SNV MAP3K15:NM_001001671:exon27:c.C3751G:p.Q1251E 0.0008 . . . 0.0039 . 0.0036 0.0008 0.0016 0 0.0009 0.0058 0.0032 0.0011 0.0054 0.0013 0.0077 . . rs15943 . . Benign not_provided RCV000430059.1 MedGen CN221809 . . . . . . 0.275 0.159 T 0.486 0.496 P 0.281 0.437 B 0.000 0.629 U 1 0.810 D 2.84 0.828 M -2.29 0.876 D -1.5 0.366 N 0.158 0.303 -0.029 0.817 T 0.520 0.821 D . . . 1.132 0.203 11.39 0.970 0.314 0.968 0.708 D . . . 1.000 0.747 . . . 5.04 0.672 5.997 0.701 1.048 0.713 1.000 0.715 0.913 0.390 13.958 0.635 Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase\x2c catalytic domain;Sterile alpha motif/pointed domain . . 0.0037 0.0010 0.0018 0.0060 0 0.0006 0.0063 0.0032 0.0012 0.0043 0.0005 0.0033 0 0 0.0004 0.0077 0.0083 hom 3354.51 115 X 19379640 . G C 3354.51 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5581;MQ=58.71;MQ0=0;QD=29.17;VQSLOD=7.5285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:115:99:3354,250,0 X 19482476 19482476 C T exonic MAP3K15 nonsynonymous SNV MAP3K15:NM_001001671:exon4:c.G574A:p.A192T 0.68 0.14 0.85 0.89 0.91 0.83 0.8444 0.2440 0.9134 0.8897 0.9589 0.9063 0.8799 0.8545 0.68 0.24 0.89 0.42 . rs5909299 COSM4156768 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.077 0.341 T . . . . . . 0.004 0.348 N 1 0.090 P 0.805 0.203 L 3.0 0.092 T -1.19 0.309 N 0.09 0.296 -1.141 0.013 T 0.000 0.000 T . . . 3.080 0.430 22.5 0.996 0.723 0.086 0.143 N . . . 0.049 0.148 . . . 3.64 0.407 1.643 0.366 0.852 0.362 0.005 0.169 0.536 0.277 11.769 0.510 Domain of unknown function DUF4071 . . 0.8426 0.2149 0.8997 0.8860 0.8839 0.9570 0.8944 0.8642 0.8395 0.7264 0.2266 0.8506 0.8913 0.8891 0.9489 0.9084 0.8827 hom 946.61 32 X 19482476 . C T 946.61 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=58.55;MQ0=0;QD=29.58;VQSLOD=8.0622;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:78.24:980,78,0 X 20071046 20071046 T C exonic MAP7D2 nonsynonymous SNV MAP7D2:NM_001168465:exon5:c.A545G:p.N182S,MAP7D2:NM_001168467:exon5:c.A413G:p.N138S,MAP7D2:NM_152780:exon5:c.A545G:p.N182S 0.36 0.92 0.26 0.033 0.25 0.11 0.2794 0.8443 0.1848 0.0199 0.2765 0.2632 0.2496 0.1410 0.47 0.83 0.27 0.29 0.27 rs34519770 COSM3759446;COSM3759445 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.001 0.121 B 0.000 0.629 N 1.000 0.588 P -0.6 0.022 N 4.06 0.031 T 0.92 0.016 N 0.004 0.007 -1.006 0.282 T 0.000 0.000 T . . . -0.346 0.065 0.521 0.393 0.027 0.090 0.146 N . . . 0.006 0.112 . . . 2.93 0.329 0.992 0.291 0.067 0.174 1.000 0.715 1.000 0.888 9.499 0.380 . . . 0.2641 0.8551 0.1917 0.3541 0.0205 0.2705 0.2562 0.2636 0.1436 0.4073 0.8512 0.2233 0.3261 0.0290 0.2720 0.2485 0.3024 hom 3426.94 110 X 20071046 . T C 3426.94 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4514;MQ=58.12;MQ0=0;QD=31.15;VQSLOD=7.3075;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:110:99:3427,262,0 X 20204461 20204461 G T exonic RPS6KA3 synonymous SNV RPS6KA3:NM_004586:exon10:c.C798A:p.L266L 0.23 0.54 0.19 0.028 0.18 0.09 0.1812 0.4943 0.1470 0.0165 0.1994 0.1716 0.1741 0.0954 0.28 0.48 0.17 0.16 0.09 rs2230488 COSM3759447 1(large_intestine) other not_specified RCV000081158.8 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1743 0.4982 0.1479 0.2613 0.0170 0.1913 0.1651 0.1867 0.0980 0.2476 0.4872 0.1581 0.2278 0.0187 0.1895 0.1597 0.2043 hom 1745.52 62 X 20204461 . G T 1745.52 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.221;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6627;MQ=58.95;MQ0=0;MQRankSum=-0.540;QD=28.15;ReadPosRankSum=1.164;VQSLOD=7.6883;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,60:62:99:1779,119,0 X 23398214 23398214 T C exonic PTCHD1 synonymous SNV PTCHD1:NM_173495:exon2:c.T858C:p.C286C 0.64 0.94 0.57 0.56 0.6 0.39 0.5943 0.8859 0.4394 0.5744 0.5852 0.6046 0.6054 0.4582 0.71 0.87 0.61 0.47 0.66 rs5926304 COSM3812430 1(prostate) other not_specified RCV000082701.7 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5864 0.8903 0.4667 0.6323 0.5655 0.5906 0.6070 0.5827 0.4660 0.6767 0.8841 0.5212 0.6452 0.5604 0.5711 0.6146 0.5736 hom 5171.42 144 X 23398214 . T C 5171.42 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.650;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1977;MQ=59.58;MQ0=0;MQRankSum=-1.227;QD=35.91;ReadPosRankSum=0.217;VQSLOD=8.0565;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,143:144:99:5133,371,0 X 23723711 23723711 C G exonic ACOT9 nonsynonymous SNV ACOT9:NM_001330259:exon11:c.G727C:p.E243Q,ACOT9:NM_001033583:exon12:c.G907C:p.E303Q,ACOT9:NM_001037171:exon13:c.G934C:p.E312Q 0.023 0.026 0.025 0.0013 0.029 0.035 0.0219 0.0227 0.0088 0.0003 0.0042 0.0267 0.0338 0.0332 0.025 0.017 0.029 0.011 0.016 rs56378612 . . . . . . . . . . . . . 0.196 0.207 T 0.009 0.139 B 0.013 0.179 B 0.000 0.629 N 0.000 0.548 P 1.85 0.492 L 1.54 0.301 T -0.83 0.240 N 0.118 0.156 -1.024 0.225 T 0.015 0.063 T . . . 2.300 0.338 18.17 0.989 0.482 0.954 0.643 D . . . 0.993 0.330 . . . 2.72 0.310 2.542 0.452 0.935 0.490 1.000 0.715 0.979 0.486 7.647 0.273 HotDog domain|Hotdog acyl-CoA thioesterase (ACOT)-type domain;HotDog domain|Hotdog acyl-CoA thioesterase (ACOT)-type domain|Thioesterase domain . . 0.0216 0.0233 0.0122 0.0500 0.0002 0.0048 0.0258 0.0264 0.0329 0.0191 0.0242 0.0226 0.0695 0 0.0064 0.0201 0.0209 hom 2903.86 86 X 23723711 . C G 2903.86 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6553;MQ=59.73;MQ0=0;QD=33.77;VQSLOD=9.0944;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2937,229,0 X 23928489 23928489 C T exonic CXorf58 nonsynonymous SNV CXorf58:NM_001169574:exon2:c.C70T:p.R24C,CXorf58:NM_152761:exon2:c.C70T:p.R24C 0.37 0.2 0.57 0.31 0.67 0.2 0.5665 0.2539 0.5292 0.3507 0.6899 0.7124 0.5881 0.2473 0.54 0.25 0.71 0.32 0.61 rs2707164 COSM1179846;COSM3759452 1(pancreas);1(prostate);1(large_intestine) . . . . . . . . . . . 0.196 0.207 T 0.996 0.670 D 0.55 0.474 P 0.290 0.039 N 1 0.090 P 0.345 0.112 N 1.44 0.327 T -0.88 0.238 N 0.097 0.101 -0.942 0.423 T 0.000 0.000 T . . . 1.002 0.190 10.67 0.829 0.140 0.044 0.098 N . . . 1.000 0.411 . . . -0.668 0.108 0.162 0.162 0.065 0.171 0.000 0.063 0.000 0.016 6.567 0.216 . . . 0.5628 0.2342 0.5145 0.7141 0.3388 0.6733 0.7029 0.6047 0.2198 0.5436 0.2410 0.5172 0.7258 0.3263 0.6709 0.6927 0.6347 hom 1612.84 51 X 23928489 . C T 1612.84 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.6651;MQ=59.63;MQ0=0;QD=31.62;VQSLOD=9.1380;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1646,126,0 X 24073761 24073761 C T exonic EIF2S3 synonymous SNV EIF2S3:NM_001415:exon2:c.C99T:p.H33H 0.36 0.12 0.61 0.36 0.7 0.18 0.5496 0.1692 0.6157 0.4079 0.6833 0.6770 0.5801 0.2393 0.5 0.19 0.67 0.34 0.51 rs36018672 COSM3759454;COSM3759453 1(breast);1(large_intestine) Likely benign not_specified RCV000116975.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5664 0.1623 0.6202 0.6201 0.4124 0.6937 0.6811 0.6037 0.2385 0.5232 0.1732 0.6137 0.6404 0.3755 0.6924 0.6802 0.5936 hom 1065.66 32 X 24073761 . C T 1065.66 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.80;MQ0=0;QD=33.30;VQSLOD=8.2490;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:90.28:1099,90,0 X 26157220 26157220 C T exonic MAGEB18 nonsynonymous SNV MAGEB18:NM_173699:exon2:c.C118T:p.P40S 0.74 0.84 0.73 0.91 0.41 0.78 0.5827 0.8016 0.8118 0.9331 0.4155 0.4273 0.5480 0.7607 0.56 0.79 0.42 0.54 0.5 rs5944317 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.061 0.021 N 1 0.090 P -1.6 0.004 N 4.36 0.023 T 2.29 0.003 N 0.013 0.095 -0.920 0.456 T 0.000 0.000 T . . . -2.583 0.003 0.001 0.186 0.006 0.001 0.006 N . . . 0.005 0.109 . . . -6.57 0.017 -2.074 0.015 -0.987 0.023 0.000 0.063 0.001 0.043 12.809 0.568 Melanoma associated antigen\x2c N-terminal . . 0.5760 0.8057 0.7925 0.4335 0.9336 0.4244 0.4152 0.5280 0.7499 0.5724 0.8032 0.7595 0.4536 0.9340 0.4358 0.4390 0.5179 hom 1741.68 54 X 26157220 . C T 1741.68 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.65;MQ0=0;QD=32.25;VQSLOD=9.3077;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1775,144,0 X 26157792 26157792 C T exonic MAGEB18 synonymous SNV MAGEB18:NM_173699:exon2:c.C690T:p.A230A 0.74 0.84 0.73 0.91 0.41 0.78 0.6185 0.8115 0.8271 0.9378 0.4589 0.4640 0.5811 0.7833 0.56 0.79 0.42 0.54 0.39 rs5944318 COSM5654423 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5778 0.8060 0.7923 0.4334 0.9335 0.4254 0.4160 0.5289 0.7503 0.5727 0.8021 0.7569 0.4301 0.9323 0.4342 0.4413 0.5184 hom 1023.59 32 X 26157792 . C T 1023.59 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.99;VQSLOD=13.9698;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.25:1057,81,0 X 30254361 30254361 G A exonic MAGEB3 nonsynonymous SNV MAGEB3:NM_002365:exon5:c.G320A:p.R107H 0.47 0.33 0.5 0.53 0.48 0.56 0.4702 0.3486 0.4943 0.5490 0.4305 0.4528 0.5238 0.5977 0.41 0.34 0.45 0.39 0.37 rs2071308 COSM1132338 1(prostate);1(thyroid);4(large_intestine) . . . . . . . . . . . 0.549 0.066 T 0.0 0.026 B 0.0 0.013 B 0.941 0.076 U 1 0.090 P 0.53 0.137 N 4.63 0.019 T -0.15 0.093 N 0.014 0.002 -0.932 0.439 T 0.000 0.000 T . . . -2.586 0.003 0.001 0.436 0.033 0.002 0.010 N . . . 1.000 0.747 . . . -8.21 0.009 -2.886 0.008 -2.460 0.003 0.000 0.063 0.000 0.016 14.277 0.656 . . . 0.4656 0.3425 0.4772 0.4699 0.5366 0.4252 0.4494 0.4820 0.5822 0.4300 0.3451 0.4708 0.5027 0.5046 0.4237 0.4639 0.4846 hom 681.97 23 X 30254361 . G A 681.97 Mask AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.65;VQSLOD=13.8109;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,23:23:57.18:715,57,0 X 30254376 30254376 T C exonic MAGEB3 nonsynonymous SNV MAGEB3:NM_002365:exon5:c.T335C:p.I112T 0.81 0.9 0.89 0.56 0.9 0.77 0.8609 0.8983 0.8736 0.5708 0.8937 0.8980 0.8686 0.8134 0.9 0.89 0.9 0.66 0.86 rs2071309 COSM1467436 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.187 0.169 N 1 0.090 P -2.6 0.000 N 4.92 0.014 T 4.36 0.000 N 0.013 0.002 -0.944 0.419 T 0.000 0.000 T . . . -3.080 0.001 0.001 0.131 0.002 0.001 0.005 N . . . 0.999 0.382 . . . -8.21 0.009 -1.839 0.018 -1.671 0.008 0.000 0.063 0.000 0.016 4.255 0.101 MAGE homology domain . . 0.8566 0.8949 0.8588 0.8332 0.5616 0.8943 0.9014 0.8638 0.8113 0.8815 0.8906 0.8477 0.8877 0.5257 0.8959 0.9091 0.8735 hom 890.74 27 X 30254376 . T C 890.74 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.99;VQSLOD=13.6031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:72.21:924,72,0 X 30254530 30254530 A G exonic MAGEB3 synonymous SNV MAGEB3:NM_002365:exon5:c.A489G:p.V163V 0.47 0.33 0.5 0.53 0.48 0.56 0.4625 0.3463 0.4908 0.5407 0.4265 0.4444 0.5174 0.5803 0.41 0.34 0.45 0.39 0.39 rs2071310 COSM1132337 1(haematopoietic_and_lymphoid_tissue);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4647 0.3431 0.4755 0.4732 0.5363 0.4247 0.4487 0.4812 0.5755 0.4246 0.3416 0.4620 0.5 0.4995 0.4182 0.4577 0.4804 hom 1192.63 38 X 30254530 . A G 1192.63 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;QD=31.38;VQSLOD=8.4143;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:93.28:1226,93,0 X 30261002 30261002 A G exonic MAGEB4 synonymous SNV MAGEB4:NM_002367:exon1:c.A750G:p.V250V 0.81 0.9 0.89 0.56 0.9 0.77 0.8576 0.8979 0.8714 0.5664 0.8923 0.8953 0.8667 0.8060 0.9 0.9 0.9 0.66 0.93 rs2071311 COSM1132336 1(haematopoietic_and_lymphoid_tissue);1(prostate);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8558 0.8950 0.8581 0.8337 0.5619 0.8939 0.9011 0.8633 0.8097 0.8815 0.8934 0.8460 0.8939 0.5286 0.8952 0.9079 0.8729 hom 1592.56 45 X 30261002 . A G 1592.56 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;QD=35.39;VQSLOD=8.6756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1626,126,0 X 30261158 30261158 G C exonic MAGEB4 synonymous SNV MAGEB4:NM_002367:exon1:c.G906C:p.L302L 0.81 0.9 0.89 0.56 0.9 0.77 0.8567 0.8971 0.8700 0.5649 0.8920 0.8942 0.8673 0.8066 0.9 0.9 0.9 0.66 0.93 rs2856733 COSM4002295 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8552 0.8945 0.8573 0.8334 0.5611 0.8938 0.9003 0.8623 0.8094 0.8808 0.8936 0.8444 0.8859 0.5245 0.8943 0.9069 0.8721 hom 1556.10 49 X 30261158 . G C 1556.10 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=31.76;VQSLOD=9.7230;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1589,126,0 X 30326983 30326983 C T exonic NR0B1 synonymous SNV NR0B1:NM_000475:exon1:c.G498A:p.R166R 0.48 0.48 0.4 0.73 0.16 0.59 0.3984 0.5019 0.5087 0.7476 0.2707 0.2562 0.3529 0.5788 0.28 0.43 0.2 0.35 0.16 rs2269345 COSM3759466;COSM3759465 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) Benign not_specified RCV000245484.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3327 0.4524 0.4416 0.2910 0.7258 0.1863 0.1969 0.2983 0.5225 0.2768 0.4177 0.4086 0.2222 0.7192 0.1727 0.1811 0.2153 hom 581.76 19 X 30326983 . C T 581.76 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=30.62;VQSLOD=8.9685;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:54.13:615,54,0 X 30577846 30577846 A C exonic CXorf21 synonymous SNV CXorf21:NM_025159:exon3:c.T627G:p.V209V 0.9 0.92 0.92 0.94 0.76 0.95 0.8242 0.9097 0.9329 0.9457 0.7490 0.7537 0.8167 0.9411 0.8 0.9 0.75 0.7 0.74 rs887369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8232 0.9092 0.9200 0.7191 0.9425 0.7550 0.7553 0.8090 0.9386 0.8111 0.9008 0.8874 0.7037 0.9516 0.7495 0.7614 0.7908 hom 3707.32 119 X 30577846 . A C 3707.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.616;DP=119;Dels=0.00;FS=2.845;HRun=0;HaplotypeScore=7.8508;MQ=58.54;MQ0=0;MQRankSum=0.448;QD=31.15;ReadPosRankSum=-0.156;VQSLOD=2.7469;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,117:119:99:3634,213,0 X 30872602 30872602 A G exonic TAB3 nonsynonymous SNV TAB3:NM_152787:exon6:c.T1180C:p.W394R 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 1. 1. 1. 0.74 1. rs5927629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 4814.70 161 X 30872602 . A G 4814.70 Mask AC=2;AF=1.00;AN=2;DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=29.90;VQSLOD=8.8723;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,161:161:99:4814,391,0 X 31496350 31496350 C T exonic DMD nonsynonymous SNV DMD:NM_004014:exon5:c.G623A:p.R208Q,DMD:NM_004013:exon16:c.G1430A:p.R477Q,DMD:NM_004020:exon16:c.G1430A:p.R477Q,DMD:NM_004021:exon16:c.G1430A:p.R477Q,DMD:NM_004022:exon16:c.G1430A:p.R477Q,DMD:NM_004023:exon16:c.G1430A:p.R477Q,DMD:NM_004011:exon31:c.G4787A:p.R1596Q,DMD:NM_004012:exon31:c.G4778A:p.R1593Q,DMD:NM_000109:exon59:c.G8786A:p.R2929Q,DMD:NM_004006:exon59:c.G8810A:p.R2937Q,DMD:NM_004009:exon59:c.G8798A:p.R2933Q,DMD:NM_004010:exon59:c.G8441A:p.R2814Q 0.88 1. 0.83 0.93 0.94 0.65 0.9045 0.9888 0.7877 0.9234 0.9421 0.9459 0.9300 0.7103 0.96 0.99 0.94 0.72 0.87 rs1800280 COSM5003974;COSM5003973;COSM5003976;COSM5003975;COSM5003977 1(pancreas) Benign|Benign\x2cBenign not_specified|Duchenne_muscular_dystrophy\x2cnot_specified RCV000124712.2|RCV000206630.3\x2cRCV000152765.5 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT\x2cMedGen CN169374|C0013264:310200:ORPHA98896:76670001\x2cCN169374 . . . . . . 0.624 0.098 T 0.0 0.026 B 0.001 0.040 B 0.003 0.354 N 1.000 0.204 P . . . 1.01 0.411 T 0.22 0.116 N 0.203 0.249 -0.945 0.419 T 0.000 0.000 T . . . 2.138 0.318 17.10 0.834 0.142 0.307 0.239 N . . . 0.993 0.331 . . . 4.23 0.492 0.643 0.243 0.154 0.240 0.993 0.376 0.995 0.604 8.899 0.345 . . . 0.8970 0.9900 0.7949 0.9789 0.9222 0.9416 0.9407 0.9166 0.7056 0.9524 0.9879 0.8336 0.9565 0.9268 0.9410 0.9457 0.9392 hom 1046.41 30 X 31496350 . C T 1046.41 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.45;MQ0=0;QD=34.88;VQSLOD=9.0131;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:84.27:1079,84,0 X 34149267 34149267 C A exonic FAM47A nonsynonymous SNV FAM47A:NM_203408:exon1:c.G1129T:p.A377S 0.25 0.36 0.2 0.29 0.16 0.18 0.1989 0.3804 0.1565 0.2523 0.1852 0.1623 0.1626 0.2466 0.24 0.39 0.16 0.21 0.16 rs1811716 COSM4999980 1(pancreas) . . . . . . . . . . . 0.403 0.104 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P -0.69 0.019 N 2.57 0.136 T 0.13 0.055 N 0.034 0.014 -0.920 0.455 T 0.000 0.000 T . . . -1.809 0.011 0.002 0.515 0.045 0.000 0.002 N . . . 0.039 0.144 . . . -0.452 0.115 -1.526 0.023 -2.541 0.002 0.001 0.137 0.000 0.016 . . . . . 0.1944 0.3916 0.1601 0.1048 0.2689 0.1812 0.1665 0.1736 0.2240 0.2498 0.3959 0.1398 0.0685 0.2889 0.1838 0.1955 0.2107 hom 2986.12 98 X 34149267 . C A 2986.12 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9933;MQ=59.08;MQ0=0;QD=30.47;VQSLOD=7.6534;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:98:99:3019,238,0 X 35820425 35820425 C T exonic MAGEB16 nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.C112T:p.L38F 0.62 0.59 0.55 0.75 0.55 0.65 0.5868 0.5795 0.5602 0.7728 0.5165 0.5591 0.5647 0.6596 0.55 0.59 0.54 0.54 0.58 rs1410961 COSM5905167;COSM5905168 1(skin) . . . . . . . . . . . 0.747 0.036 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.345 0.033 N 3.62 0.044 T 0.87 0.017 N 0.005 0.002 -0.938 0.429 T 0.000 0.000 T . . . -2.121 0.007 0.001 0.258 0.012 0.000 0.003 N . . . 0.126 0.170 . . . -5.68 0.022 -1.107 0.034 -2.019 0.005 0.000 0.063 0.000 0.016 0.395 0.004 Melanoma associated antigen\x2c N-terminal . . 0.5712 0.5754 0.5461 0.6482 0.7632 0.4948 0.5407 0.5723 0.6373 0.5651 0.5933 0.5472 0.6452 0.7717 0.5053 0.5448 0.5680 hom 1213.94 37 X 35820425 . C T 1213.94 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=32.81;VQSLOD=9.1703;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:99:1247,99,0 X 35820696 35820696 G A exonic MAGEB16 nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.G383A:p.C128Y 0.62 0.59 0.55 0.75 0.55 0.65 0.5768 0.5759 0.5548 0.7666 0.5044 0.5475 0.5406 0.6468 0.55 0.58 0.54 0.54 0.56 rs1410962 COSM5905166;COSM5905165 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P -3.695 0.000 N 3.66 0.043 T 8.7 0.000 N 0.047 0.030 -0.972 0.367 T 0.000 0.000 T . . . -1.441 0.018 0.003 0.209 0.008 0.000 0.002 N . . . 0.000 0.038 . . . 3.13 0.349 1.317 0.330 0.078 0.186 0.356 0.256 0.008 0.104 4.632 0.118 MAGE homology domain . . 0.5715 0.5774 0.5464 0.6476 0.7618 0.4951 0.5408 0.5715 0.6374 0.5660 0.5941 0.5449 0.6575 0.7707 0.5057 0.5452 0.5690 hom 1769.83 57 X 35820696 . G A 1769.83 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6997;MQ=59.67;MQ0=0;QD=31.05;VQSLOD=8.0140;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1803,147,0 X 35820795 35820795 A G exonic MAGEB16 nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.A482G:p.H161R 0.62 0.59 0.55 0.75 0.55 0.65 0.5746 0.5730 0.5537 0.7646 0.5008 0.5459 0.5376 0.6419 0.55 0.58 0.54 0.54 0.6 rs5973488 COSM4386393;COSM150777 1(stomach);1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.01 0.139 B 0.464 0.123 N 1 0.090 P -0.725 0.018 N 3.62 0.044 T -1.42 0.350 N 0.025 0.007 -1.035 0.188 T 0.000 0.000 T . . . -2.089 0.007 0.001 0.361 0.023 0.000 0.004 N . . . 0.000 0.029 . . . 0.77 0.176 -1.100 0.034 -0.431 0.058 0.000 0.063 0.002 0.062 6.231 0.198 MAGE homology domain . . 0.5721 0.5783 0.5475 0.6475 0.7619 0.4942 0.5420 0.5723 0.6385 0.5654 0.5936 0.5510 0.6393 0.7681 0.5060 0.5448 0.5712 hom 2891.19 99 X 35820795 . A G 2891.19 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.77;MQ0=0;QD=29.20;VQSLOD=8.3138;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2924,235,0 X 35821055 35821055 A G exonic MAGEB16 nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.A742G:p.M248V 0.62 0.59 0.55 0.75 0.55 0.65 0.5726 0.5723 0.5493 0.7631 0.4976 0.5435 0.5418 0.6415 0.11 0.11 0.11 . 0.57 rs4829390 COSM5905172;COSM5905171 1(skin) . . . . . . . . . . . 0.001 0.784 D 0.004 0.112 B 0.005 0.104 B 0.374 0.135 N 1 0.090 P 0 0.065 N 3.61 0.045 T -0.96 0.260 N 0.046 0.030 -0.899 0.482 T 0.000 0.000 T . . . -0.934 0.035 0.022 0.321 0.018 0.002 0.014 N . . . 0.993 0.329 . . . -6.12 0.019 -1.483 0.024 -0.855 0.029 0.000 0.063 0.000 0.016 7.410 0.260 MAGE homology domain . . 0.5712 0.5774 0.5462 0.6475 0.7615 0.4950 0.5407 0.5712 0.6373 0.5627 0.5909 0.5459 0.6464 0.7669 0.5062 0.5414 0.5602 hom 1940.07 57 X 35821055 . A G 1940.07 Mask AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8216;MQ=59.60;MQ0=0;QD=34.04;VQSLOD=9.4010;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,57:57:99:1973,156,0 X 35821056 35821056 T A exonic MAGEB16 nonsynonymous SNV MAGEB16:NM_001099921:exon2:c.T743A:p.M248K 0.62 0.59 0.55 0.75 0.55 0.65 0.5722 0.5721 0.5486 0.7625 0.4977 0.5432 0.5403 0.6412 0.11 0.11 0.11 . 0.57 rs4829391 COSM5905169;COSM5905170 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.374 0.135 N 1 0.090 P -3.405 0.000 N 3.88 0.036 T 4.43 0.000 N 0.053 0.035 -0.952 0.407 T 0.000 0.000 T . . . -0.809 0.040 0.041 0.505 0.043 0.000 0.001 N . . . 0.000 0.038 . . . 3.06 0.342 1.358 0.335 0.060 0.166 0.024 0.198 0.001 0.043 5.012 0.136 MAGE homology domain . . 0.5710 0.5773 0.5459 0.6474 0.7613 0.4948 0.5404 0.5711 0.6372 0.5626 0.5907 0.5459 0.6413 0.7654 0.5062 0.5417 0.5596 hom 1833.96 55 X 35821056 . T A 1833.96 Mask AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8216;MQ=59.58;MQ0=0;QD=33.34;VQSLOD=8.6902;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:55:99:1867,153,0 X 35821127 35821127 C T exonic MAGEB16 stopgain MAGEB16:NM_001099921:exon2:c.C814T:p.R272X 0.62 0.59 0.55 0.75 0.55 0.65 0.5787 0.5776 0.5569 0.7665 0.5063 0.5501 0.5446 0.6460 0.55 0.57 0.53 0.53 0.53 rs4829392 COSM5905174;COSM5905173 1(skin) . . . . . . . . . . . . . . . . . . . . 0.030 0.254 N 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 8.169 0.957 35 0.941 0.237 0.010 0.037 N . . . 0.000 0.029 . . . -1.27 0.088 -0.036 0.120 -0.062 0.121 0.000 0.063 0.033 0.150 5.925 0.182 MAGE homology domain . . 0.5724 0.5782 0.5474 0.6471 0.7619 0.4957 0.5427 0.5716 0.6374 0.5670 0.5935 0.5468 0.6484 0.7744 0.5058 0.5475 0.5660 hom 1715.89 56 X 35821127 . C T 1715.89 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.67;MQ0=0;QD=30.64;VQSLOD=8.5121;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1749,135,0 X 38144822 38144822 C T exonic RPGR nonsynonymous SNV RPGR:NM_001034853:exon15:c.G3430A:p.V1144I 0.18 0.002 0.2 0.38 0.082 0.3 0.1376 0.0155 0.2346 0.4100 0.1022 0.0869 0.1065 0.2297 0.062 0.018 0.086 0.17 0.13 rs12688514 . . Benign not_specified RCV000454379.1 MedGen CN169374 . . . . . . . . . 0.799 0.429 P 0.12 0.306 B . . . 1.000 0.588 P . . . 0.52 0.553 T -0.27 0.114 N 0.051 0.032 -1.072 0.090 T 0.000 0.000 T . . . 4.160 0.558 23.8 0.922 0.209 0.671 0.330 D . . . 1.000 0.401 . . . 2.72 0.310 1.950 0.397 0.886 0.389 1.000 0.715 1.000 0.888 7.241 0.251 . . . 0.1396 0.0136 0.2236 0.0807 0.4030 0.0955 0.0829 0.1333 0.2250 0.0899 0.0181 0.2117 0.0652 0.4127 0.0987 0.0879 0.1247 hom 2112.76 60 X 38144822 . C T 2112.76 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=35.21;VQSLOD=9.4870;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:2146,178,0 X 38144856 38144856 G A exonic RPGR synonymous SNV RPGR:NM_001034853:exon15:c.C3396T:p.N1132N 0.26 0.1 0.21 0.6 0.082 0.35 0.1657 0.1040 0.2395 0.5940 0.1029 0.0875 0.1280 0.2699 0.093 0.1 0.087 0.2 0.12 rs12687163 . . Likely benign not_provided RCV000132610.1 MedGen CN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1647 0.1011 0.2296 0.0830 0.5867 0.0959 0.0836 0.1512 0.2640 0.1213 0.1001 0.2169 0.0710 0.5878 0.1004 0.0883 0.1365 hom 3690.29 121 X 38144856 . G A 3690.29 Mask AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.43;MQ0=0;QD=30.50;VQSLOD=9.1408;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,121:121:99:3690,292,0 X 39933339 39933339 A G exonic BCOR synonymous SNV BCOR:NM_001123383:exon4:c.T1260C:p.D420D,BCOR:NM_001123384:exon4:c.T1260C:p.D420D,BCOR:NM_001123385:exon4:c.T1260C:p.D420D,BCOR:NM_017745:exon4:c.T1260C:p.D420D 0.9 0.94 0.93 0.96 0.88 0.8 0.8952 0.9219 0.9583 0.9744 0.9439 0.8889 0.8979 0.7707 0.9 0.92 0.88 0.65 0.8 rs5917933 COSM4156839;COSM4156840 1(thyroid) other not_specified RCV000081809.8 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8970 0.9233 0.9543 0.9025 0.9729 0.9413 0.8821 0.8942 0.7726 0.9153 0.9232 0.9469 0.8771 0.9756 0.9487 0.8959 0.9042 hom 1168.28 41 X 39933339 . A G 1168.28 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=28.49;VQSLOD=8.0169;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:96.29:1201,96,0 X 40506697 40506697 A G exonic CXorf38 synonymous SNV CXorf38:NM_144970:exon1:c.T76C:p.L26L 0.98 1. 0.96 1. 0.93 0.98 0.9642 0.9923 0.9869 1 0.9572 0.9465 0.9614 0.9817 0.96 0.99 0.94 0.16 0.8 rs6610447 COSM1132306 1(prostate);1(thyroid);6(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9614 0.9921 0.9838 0.9489 1 0.9507 0.9428 0.9604 0.9798 0.9641 0.9915 0.9803 0.9389 1 0.9529 0.9481 0.9534 hom 935.34 33 X 40506697 . A G 935.34 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;QD=28.34;VQSLOD=8.6600;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:72.23:968,72,0 X 41587218 41587218 T C exonic GPR82 synonymous SNV GPR82:NM_080817:exon3:c.T939C:p.D313D 0.87 0.88 0.9 0.98 0.71 0.87 0.8342 0.8772 0.9277 0.9894 0.7083 0.7841 0.8067 0.8929 0.81 0.87 0.77 0.62 0.61 rs1023065 . . Likely benign not_specified RCV000145404.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8104 0.8711 0.9084 0.6794 0.9898 0.6801 0.7673 0.7865 0.8668 0.7970 0.8657 0.8997 0.6703 0.9962 0.6636 0.7707 0.7476 hom 899.07 31 X 41587218 . T C 899.07 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.00;VQSLOD=13.0042;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:69.22:932,69,0 X 43591036 43591036 G T exonic MAOA synonymous SNV MAOA:NM_000240:exon8:c.G891T:p.R297R,MAOA:NM_001270458:exon9:c.G492T:p.R164R 0.62 0.86 0.71 0.43 0.71 0.35 0.6529 0.8504 0.6682 0.4411 0.6231 0.7008 0.6354 0.3982 0.76 0.85 0.7 0.45 0.66 rs6323 COSM4156846 1(haematopoietic_and_lymphoid_tissue);1(thyroid) other not_specified RCV000078415.8 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6490 0.8555 0.6787 0.7114 0.4298 0.6222 0.7024 0.6641 0.3961 0.7196 0.8558 0.6974 0.7213 0.4056 0.6277 0.7037 0.6440 hom 1526.73 54 X 43591036 . G T 1526.73 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.61;MQ0=0;QD=28.27;VQSLOD=7.8742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1560,123,0 X 43603391 43603391 T C exonic MAOA synonymous SNV MAOA:NM_000240:exon14:c.T1410C:p.D470D,MAOA:NM_001270458:exon15:c.T1011C:p.D337D 0.55 0.64 0.61 0.42 0.71 0.35 0.6260 0.6271 0.5963 0.4413 0.6287 0.7036 0.6234 0.3999 0.67 0.62 0.7 0.41 0.64 rs1137070 . . other not_specified RCV000078414.8 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6210 0.6271 0.6043 0.7152 0.4290 0.6237 0.7019 0.6379 0.3897 0.6522 0.6175 0.6282 0.7258 0.4045 0.6297 0.7025 0.625 hom 1452.87 48 X 43603391 . T C 1452.87 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=30.27;VQSLOD=8.4676;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1486,111,0 X 44938563 44938563 G A exonic KDM6A synonymous SNV KDM6A:NM_001291418:exon18:c.G2874A:p.Q958Q,KDM6A:NM_001291421:exon18:c.G2223A:p.Q741Q,KDM6A:NM_001291417:exon19:c.G2976A:p.Q992Q,KDM6A:NM_001291416:exon20:c.G3132A:p.Q1044Q,KDM6A:NM_021140:exon20:c.G3111A:p.Q1037Q,KDM6A:NM_001291415:exon21:c.G3267A:p.Q1089Q 0.22 0.012 0.45 0.31 0.21 0.26 0.2384 0.0319 0.5644 0.3342 0.2036 0.1938 0.2621 0.2740 0.13 0.033 0.19 0.14 0.2 rs20539 COSM5019441;COSM5019442;COSM1179848 8(soft_tissue);1(prostate) Benign not_specified RCV000146125.7 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2520 0.0276 0.5301 0.2719 0.3244 0.2029 0.1855 0.2722 0.2703 0.1641 0.0313 0.4365 0.2350 0.3330 0.2260 0.1870 0.2020 hom 1406.36 50 X 44938563 . G A 1406.36 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.13;VQSLOD=13.8182;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1439,111,0 X 45051111 45051111 C T exonic CXorf36 nonsynonymous SNV CXorf36:NM_024689:exon2:c.G383A:p.R128K,CXorf36:NM_176819:exon2:c.G383A:p.R128K 0.44 0.17 0.5 0.76 0.33 0.54 0.4112 0.2032 0.6232 0.7531 0.3928 0.3367 0.4107 0.5288 0.28 0.2 0.32 0.28 0.4 rs1132201 COSM3759499;COSM3759500 1(breast);1(large_intestine) . . . . . . . . . . . 0.674 0.114 T 0.005 0.200 B 0.006 0.145 B 0.002 0.387 N 0.983 0.249 P 1.75 0.456 L 1.62 0.304 T -0.04 0.119 N 0.056 0.074 -0.954 0.403 T 0.000 0.000 T . . . 0.923 0.182 10.21 0.961 0.281 0.738 0.358 D . . . 1.000 0.446 . . . 2.92 0.329 1.219 0.319 0.017 0.142 1.000 0.715 0.992 0.562 8.581 0.326 . . . 0.4217 0.1997 0.5975 0.4170 0.7395 0.3949 0.3273 0.4174 0.5265 0.3417 0.2083 0.5336 0.4054 0.7320 0.4064 0.3445 0.4154 hom 2448.89 73 X 45051111 . C T 2448.89 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8332;MQ=59.49;MQ0=0;QD=33.55;VQSLOD=9.6021;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2482,196,0 X 46472826 46472826 G A exonic SLC9A7 synonymous SNV SLC9A7:NM_001257291:exon16:c.C1827T:p.Y609Y,SLC9A7:NM_032591:exon16:c.C1824T:p.Y608Y 0.72 0.93 0.65 0.72 0.52 0.69 0.5857 0.8725 0.6512 0.7071 0.5111 0.4936 0.5901 0.6786 0.63 0.86 0.5 0.59 0.33 rs3208940 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5753 0.8759 0.6364 0.5829 0.7066 0.4955 0.4891 0.5703 0.6455 0.6100 0.8728 0.6324 0.5459 0.6946 0.5023 0.4876 0.5303 hom 637.64 21 X 46472826 . G A 637.64 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.36;VQSLOD=13.7232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:54.16:671,54,0 X 46618321 46618321 C G exonic SLC9A7 synonymous SNV SLC9A7:NM_001257291:exon1:c.G144C:p.A48A,SLC9A7:NM_032591:exon1:c.G144C:p.A48A 0.77 0.98 0.68 0.86 0.47 0.76 0.6438 0.9262 0.7192 0.8473 0.5002 0.5206 0.6296 0.7197 0.61 0.91 0.45 0.098 0.19 rs1056846 COSM4156851 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5660 0.9272 0.6455 0.5044 0.8272 0.4286 0.4548 0.5487 0.6776 0.6033 0.9212 0.6293 0.5029 0.8320 0.4431 0.4451 0.4947 hom 506.04 17 X 46618321 . C G 506.04 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.77;MQ0=0;QD=29.77;VQSLOD=7.3526;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:45.13:539,45,0 X 47444985 47444985 T C exonic TIMP1 synonymous SNV TIMP1:NM_003254:exon5:c.T372C:p.F124F 0.47 0.48 0.42 0.46 0.46 0.5 0.5287 0.5029 0.4731 0.4847 0.5913 0.5334 0.5355 0.6178 0.46 0.47 0.46 0.33 0.33 rs4898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4632 0.4742 0.4240 0.4308 0.4428 0.4828 0.4659 0.4347 0.5263 0.4737 0.4751 0.4276 0.4463 0.3955 0.4839 0.4780 0.5177 hom 299.61 10 X 47444985 . T C 299.61 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.96;VQSLOD=13.4057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:333,27,0 X 47918205 47918205 G A exonic ZNF630 synonymous SNV ZNF630:NM_001037735:exon5:c.C1626T:p.P542P,ZNF630:NM_001190255:exon5:c.C1584T:p.P528P,ZNF630:NM_001282201:exon5:c.C1626T:p.P542P,ZNF630:NM_001282202:exon5:c.C1254T:p.P418P 0.64 0.59 0.69 0.87 0.54 0.53 0.5925 0.5854 0.6960 0.8745 0.4982 0.5460 0.6232 0.5693 0.55 0.57 0.54 0.42 0.47 rs501128 COSM5425019 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5835 0.5717 0.6752 0.6074 0.8727 0.4903 0.5306 0.5856 0.5546 0.5527 0.5680 0.6876 0.6170 0.8880 0.4773 0.5228 0.5447 hom 550.84 18 X 47918205 . G A 550.84 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.60;VQSLOD=13.6331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:584,45,0 X 48049666 48049666 C T exonic SSX5 synonymous SNV SSX5:NM_175723:exon6:c.G369A:p.S123S,SSX5:NM_021015:exon7:c.G492A:p.S164S 0.91 0.68 0.97 1. 1. 1. 0.9692 0.7012 0.9881 1 1 0.9996 0.9857 0.9994 0.89 0.71 1. 0.65 0.99 rs5906557 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9755 0.6836 0.9873 1 1 1 0.9996 0.9856 0.9992 0.9188 0.7035 0.9807 1 1 1 0.9997 0.9875 hom 6985.53 216 X 48049666 . C T 6985.53 Mask AC=2;AF=1.00;AN=2;DP=216;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8237;MQ=59.40;MQ0=0;QD=32.34;VQSLOD=8.5868;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6985,542,0 X 48054740 48054740 C G exonic SSX5 nonsynonymous SNV SSX5:NM_021015:exon2:c.G55C:p.E19Q,SSX5:NM_175723:exon2:c.G55C:p.E19Q 0.86 0.62 0.89 0.89 1. 0.99 0.9525 0.6493 0.9532 0.9240 1 0.9983 0.9731 0.9863 0.87 0.66 1. 0.62 0.99 rs4824675 . . . . . . . . . . . . . 0.035 0.461 D 0.983 0.585 D 0.721 0.531 P 0.495 0.120 N 1 0.090 P 2.36 0.681 M 5.68 0.186 T -1.98 0.457 N 0.092 0.091 -0.992 0.321 T 0.000 0.000 T . . . 2.662 0.381 20.6 0.990 0.490 0.025 0.070 N . . . 0.018 0.130 . . . 0.506 0.161 -0.227 0.091 -0.364 0.068 0.000 0.063 0.003 0.074 5.102 0.140 Krueppel-associated box . . 0.9589 0.6400 0.9498 0.9975 0.9221 0.9999 0.9982 0.9704 0.9837 0.8990 0.6525 0.9450 1 0.9162 1 0.9982 0.9762 hom 7177.58 227 X 48054740 . C G 7177.58 Mask AC=2;AF=1.00;AN=2;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.36;MQ0=0;QD=31.62;VQSLOD=9.7414;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:7177,545,0 X 48317386 48317386 A G exonic SLC38A5 nonsynonymous SNV SLC38A5:NM_033518:exon17:c.T1352C:p.M451T 0.085 0.036 0.19 0.09 0.068 0.089 0.1291 0.0460 0.2426 0.1441 0.1607 0.1258 0.1191 0.1228 0.059 0.032 0.074 0.076 0.041 rs17281188 COSM4156868;COSM4156867 1(thyroid) Benign not_specified RCV000454510.1 MedGen CN169374 . . . . . . . . . 0.998 0.715 D 0.98 0.732 D 0.000 0.843 D 0.000 0.588 P 2.565 0.752 M 4.26 0.026 T . . . 0.301 0.370 -1.097 0.044 T 0.001 0.004 T . . . 3.322 0.458 22.9 0.979 0.360 0.977 0.763 D . . . 1.000 0.422 . . . 3.88 0.438 8.315 0.898 1.088 0.866 1.000 0.715 0.968 0.456 8.550 0.324 Amino acid transporter\x2c transmembrane domain . . 0.0844 0.0326 0.1339 0.1197 0.0795 0.0622 0.0709 0.0857 0.1015 0.0658 0.0374 0.1415 0.0874 0.0803 0.0743 0.0730 0.0721 hom 513.57 20 X 48317386 . A G 513.57 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=25.68;VQSLOD=7.5359;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:42.13:547,42,0 X 48418126 48418126 A G exonic TBC1D25 nonsynonymous SNV TBC1D25:NM_001348262:exon6:c.A878G:p.N293S,TBC1D25:NM_001348263:exon6:c.A842G:p.N281S,TBC1D25:NM_001348264:exon6:c.A656G:p.N219S,TBC1D25:NM_001348265:exon6:c.A656G:p.N219S,TBC1D25:NM_002536:exon6:c.A830G:p.N277S 0.56 0.8 0.44 0.54 0.4 0.48 0.4672 0.7768 0.4081 0.5442 0.4223 0.4206 0.4529 0.4505 0.55 0.76 0.43 0.49 0.39 rs2293948 COSM3759505 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.003 0.080 B 0.000 0.629 N 0.999 0.588 P -1.285 0.007 N 1.12 0.387 T 0.39 0.035 N 0.005 0.000 -0.930 0.441 T 0.000 0.000 T . . . -2.234 0.005 0.001 0.593 0.060 0.251 0.224 N . . . 0.995 0.336 . . . 3.9 0.441 1.573 0.359 -0.691 0.038 0.978 0.348 0.437 0.260 8.656 0.330 Rab-GTPase-TBC domain . . 0.4528 0.7841 0.4188 0.3134 0.5343 0.4188 0.4242 0.4410 0.4381 0.5251 0.7705 0.4114 0.3552 0.5160 0.4253 0.4289 0.4455 hom 1501.24 43 X 48418126 . A G 1501.24 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.91;VQSLOD=14.5375;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:99:1534,120,0 X 48418659 48418659 G A exonic TBC1D25 nonsynonymous SNV TBC1D25:NM_001348262:exon6:c.G1411A:p.A471T,TBC1D25:NM_001348263:exon6:c.G1375A:p.A459T,TBC1D25:NM_001348264:exon6:c.G1189A:p.A397T,TBC1D25:NM_001348265:exon6:c.G1189A:p.A397T,TBC1D25:NM_002536:exon6:c.G1363A:p.A455T 0.56 0.8 0.44 0.54 0.4 0.48 0.4847 0.7865 0.4225 0.5581 0.4550 0.4371 0.4731 0.4682 0.55 0.76 0.43 0.5 0.37 rs235836 COSM3759506 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.027 0.017 N 1 0.186 P -1.1 0.010 N 2.0 0.215 T 1.4 0.008 N 0.013 0.002 -0.981 0.347 T 0.000 0.000 T . . . -0.890 0.036 0.027 0.812 0.131 0.007 0.030 N . . . 0.992 0.326 . . . -7.34 0.013 -1.434 0.025 -0.537 0.048 0.000 0.063 0.925 0.399 3.107 0.059 Rab-GTPase-TBC domain . . 0.4538 0.7856 0.4193 0.3144 0.5348 0.4190 0.4254 0.4422 0.4384 0.5245 0.7685 0.4160 0.3239 0.5149 0.4245 0.4283 0.4422 hom 905.94 28 X 48418659 . G A 905.94 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=32.35;VQSLOD=8.3973;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:78.22:939,78,0 X 48460314 48460314 A G exonic WDR13 nonsynonymous SNV WDR13:NM_001166426:exon5:c.A698G:p.H233R,WDR13:NM_017883:exon6:c.A974G:p.H325R,WDR13:NM_001347217:exon7:c.A974G:p.H325R,WDR13:NM_001347219:exon7:c.A698G:p.H233R 1. 1. 1. 1. 1. 1. 1.0000 0.9996 1 1 1 1 1 1 1. 1. 1. 0.74 1. rs235842 COSM4156874;COSM4156875 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9993 1 1 1 1 1.0000 1 1 0.9997 0.9990 1 1 1 1 1 1 hom 1595 52 X 48460314 . A G 1595 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.666;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.733;QD=30.67;ReadPosRankSum=0.000;VQSLOD=8.1102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,51:52:99:1628,138,0 X 48751471 48751471 A G exonic TIMM17B synonymous SNV TIMM17B:NM_005834:exon5:c.T228C:p.I76I,TIMM17B:NM_001167947:exon6:c.T378C:p.I126I 0.73 0.97 0.54 0.75 0.49 0.77 0.6497 0.9408 0.5405 0.7729 0.6050 0.5784 0.5926 0.7413 0.67 0.92 0.54 0.55 0.46 rs1128363 COSM4156880 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5933 0.9396 0.5153 0.5145 0.7532 0.5304 0.5314 0.5744 0.7181 0.6538 0.9336 0.5292 0.4865 0.7030 0.5272 0.5385 0.5850 hom 639.21 25 X 48751471 . A G 639.21 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=25.57;VQSLOD=6.9067;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:57.15:672,57,0 X 48920046 48920046 C T exonic CCDC120 nonsynonymous SNV CCDC120:NM_001163321:exon4:c.C202T:p.R68W,CCDC120:NM_001163322:exon4:c.C61T:p.R21W,CCDC120:NM_001163323:exon4:c.C61T:p.R21W,CCDC120:NM_001271835:exon4:c.C97T:p.R33W,CCDC120:NM_001271836:exon4:c.C97T:p.R33W,CCDC120:NM_033626:exon4:c.C97T:p.R33W . . . . . . 0 0 0 0 0 0 0 0 . . . . . rs782463146 COSM4754722;COSM3390680 1(stomach);1(pancreas) . . . . . . . . . . . 0.005 0.632 D 1.0 0.899 D 0.993 0.797 D 0.000 0.537 D 0.733 0.337 D 1.545 0.392 L . . . -2.81 0.593 D 0.607 0.640 -0.340 0.739 T 0.296 0.668 T 0.030 0.522 D 5.618 0.765 26.6 0.999 0.978 0.905 0.515 D . . . 0.994 0.334 . . . 2.8 0.317 0.846 0.271 0.935 0.490 0.994 0.380 0.984 0.507 13.416 0.603 . . . 1.693e-05 0 7.533e-05 0 0 0 1.262e-05 0 0 . . . . . . . . hom 668.89 20 X 48920046 . C T 668.89 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.68;MQ0=0;QD=33.44;VQSLOD=7.3066;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:57.17:702,57,0 X 49021256 49021256 A G exonic MAGIX nonsynonymous SNV MAGIX:NM_024859:exon4:c.A335G:p.H112R 1. 1. 1. 1. 1. 1. 0.9982 1 0.9997 0.9994 0.9965 0.9985 0.9984 0.9942 1. 1. 1. 0.74 . rs5906744 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9983 1 0.9998 0.9999 0.9995 0.9960 0.9986 0.9988 0.9939 0.9994 0.9998 1 1 1 0.9981 0.9994 0.9972 hom 6726.31 219 X 49021256 . A G 6726.31 Mask AC=2;AF=1.00;AN=2;DP=219;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.39;MQ0=0;QD=30.71;VQSLOD=8.4680;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,219:219:99:6725,539,0 X 49071964 49071964 A G exonic CACNA1F synonymous SNV CACNA1F:NM_001256789:exon28:c.T3276C:p.H1092H,CACNA1F:NM_001256790:exon28:c.T3114C:p.H1038H,CACNA1F:NM_005183:exon28:c.T3309C:p.H1103H 0.55 0.83 0.59 0.68 0.28 0.29 0.4349 0.7634 0.6607 0.6695 0.3974 0.3154 0.4087 0.3416 0.46 0.74 0.29 0.49 0.24 rs2075866 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4105 0.7628 0.6310 0.2247 0.6534 0.3576 0.2961 0.3870 0.3089 0.4523 0.7457 0.5799 0.2384 0.6226 0.3578 0.3055 0.3769 hom 815.25 25 X 49071964 . A G 815.25 Mask AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;QD=32.61;VQSLOD=9.1313;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,25:25:69.21:848,69,0 X 49081291 49081291 G A exonic CACNA1F synonymous SNV CACNA1F:NM_001256789:exon14:c.C1809T:p.G603G,CACNA1F:NM_001256790:exon14:c.C1647T:p.G549G,CACNA1F:NM_005183:exon14:c.C1842T:p.G614G 0.44 0.47 0.48 0.68 0.27 0.29 0.4461 0.5012 0.6276 0.7114 0.4884 0.3708 0.4418 0.3437 0.33 0.43 0.28 0.38 0.2 rs2235127 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3663 0.4289 0.5271 0.2232 0.6605 0.3509 0.2835 0.3638 0.3014 0.3587 0.4259 0.5024 0.2404 0.6304 0.3459 0.2923 0.3564 hom 515.26 15 X 49081291 . G A 515.26 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.35;VQSLOD=13.8017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:45.14:548,45,0 X 50121146 50121146 - G exonic DGKK unknown UNKNOWN . . . . . . 1 1 1 1 1 1 1 1 1. 1. 1. . . rs35830302 COSN20117746;COSN20117748;COSN20117745;COSN20117744;COSN20117743;COSN20117747;COSN20083847 1(skin);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1457.68 34 X 50121146 . A AG 1457.68 Mask AC=2;AF=1.00;AN=2;DP=34;FS=0.000;HRun=1;HaplotypeScore=76.7914;MQ=60.60;MQ0=0;QD=42.87;set=variant2 GT:AD:DP:GQ:PL 1/1:1,33:34:99:1500,102,0 X 52825546 52825546 C G exonic SPANXN5 synonymous SNV SPANXN5:NM_001009616:exon2:c.G201C:p.L67L 0.98 0.98 0.98 1. 0.97 0.97 0.9758 0.9751 0.9856 1 0.9852 0.9690 0.9778 0.9795 0.97 0.98 0.97 0.72 0.93 rs2806838 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9764 0.9749 0.9840 0.9821 0.9999 0.9852 0.9684 0.9702 0.9761 0.9758 0.9760 0.9710 0.9740 0.9990 0.9861 0.9716 0.9698 hom 4985.85 166 X 52825546 . C G 4985.85 Mask AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9125;MQ=58.94;MQ0=3;QD=30.04;VQSLOD=8.4343;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:3,163:166:99:4985,391,0 X 53563589 53563589 A G exonic HUWE1 synonymous SNV HUWE1:NM_031407:exon79:c.T12177C:p.G4059G 0.99 0.98 1. 1. 1. 1. 0.9973 0.9767 0.9971 1 1 0.9999 0.9984 1 0.99 0.98 1. 0.74 0.97 rs426298 . . other not_specified RCV000082281.7 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9979 0.9755 0.9982 1 1 1 0.9999 0.9980 0.9998 0.9942 0.9787 0.9984 1 1 1 1 1 hom 1295.85 41 X 53563589 . A G 1295.85 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=31.61;VQSLOD=9.8071;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1329,105,0 X 55116466 55116466 C G exonic PAGE2 nonsynonymous SNV PAGE2:NM_207339:exon2:c.C13G:p.L5V 0.93 0.78 0.98 1. 0.99 0.98 0.9757 0.8094 0.9877 1 0.9973 0.9951 0.9873 0.9827 0.92 0.8 0.99 0.66 0.93 rs1845444 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.425 0.001 N 2.31 0.293 T 1.28 0.010 N 0.013 0.200 -0.977 0.356 T 0.000 0.000 T . . . -2.721 0.002 0.001 0.045 0.000 0.000 0.001 N . . . 0.000 0.012 . . . -0.443 0.116 -0.426 0.070 -0.783 0.033 0.000 0.063 0.003 0.074 . . GAGE . . 0.9799 0.8015 0.9879 0.9910 1 0.9982 0.9951 0.9863 0.9820 0.9476 0.8139 0.9773 0.9947 1 0.9996 0.9953 0.9931 hom 1130.56 37 X 55116466 . C G 1130.56 Mask AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;QD=30.56;VQSLOD=7.9957;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,37:37:87.28:1164,87,0 X 55287031 55287031 T G exonic PAGE3 synonymous SNV PAGE3:NM_001017931:exon4:c.A255C:p.G85G,PAGE3:NM_001171252:exon4:c.A255C:p.G85G,PAGE3:NM_001303613:exon4:c.A255C:p.G85G 0.34 0.21 0.47 0.41 0.32 0.39 0.3570 0.2115 0.5425 0.4078 0.3230 0.3353 0.3844 0.3872 0.28 0.2 0.32 0.26 0.2 rs3761560 COSM4156944 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3509 0.2016 0.5175 0.4345 0.4018 0.3114 0.3074 0.3900 0.3565 0.2829 0.2006 0.4747 0.4530 0.3893 0.2908 0.2990 0.3362 hom 821.24 31 X 55287031 . T G 821.24 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.68;MQ0=0;QD=26.49;VQSLOD=7.3799;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:69.20:854,69,0 X 55289774 55289774 T C exonic PAGE3 nonsynonymous SNV PAGE3:NM_001017931:exon3:c.A103G:p.N35D,PAGE3:NM_001171252:exon3:c.A103G:p.N35D,PAGE3:NM_001303613:exon3:c.A103G:p.N35D 0.82 0.44 0.94 1. 0.97 0.93 0.9273 0.5264 0.9697 0.9998 0.9930 0.9700 0.9450 0.9395 0.81 0.53 0.97 0.51 0.88 rs4826381 . . . . . . . . . . . . . 0.977 0.020 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P . . . 3.22 0.070 T 1.75 0.005 N 0.023 0.006 -0.999 0.301 T 0.000 0.000 T . . . -1.548 0.016 0.002 0.151 0.004 0.000 0.002 N . . . 0.000 0.012 . . . 1.1 0.195 -0.122 0.105 -0.570 0.046 0.051 0.212 0.005 0.090 3.431 0.069 GAGE . . 0.9349 0.5143 0.9622 0.9232 0.9998 0.9933 0.9691 0.9442 0.9303 0.8545 0.5241 0.9502 0.9202 1 0.9947 0.9719 0.9596 hom 513.60 16 X 55289774 . T C 513.60 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.10;VQSLOD=13.9766;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:547,42,0 X 55479299 55479299 G A exonic MAGEH1 synonymous SNV MAGEH1:NM_014061:exon1:c.G492A:p.G164G 0.27 0.04 0.43 0.37 0.29 0.31 0.2927 0.0688 0.5243 0.3588 0.2433 0.2810 0.3149 0.3013 0.21 0.076 0.28 0.2 0.29 rs11545211 COSM3759528 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3087 0.0646 0.5081 0.4275 0.3629 0.2403 0.2736 0.3545 0.3024 0.2193 0.0658 0.4798 0.4637 0.3330 0.2409 0.2635 0.3 hom 2176.10 74 X 55479299 . G A 2176.10 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;QD=29.41;VQSLOD=8.3675;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2209,183,0 X 55651001 55651001 T C exonic FOXR2 nonsynonymous SNV FOXR2:NM_198451:exon1:c.T857C:p.V286A 0.81 0.39 0.93 1. 0.97 0.94 0.9237 0.4942 0.9663 0.9998 0.9925 0.9701 0.9382 0.9425 0.8 0.5 0.97 0.49 0.91 rs2375465 COSM4156947 2(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.629 0.107 N 1 0.090 P -1.7 0.004 N -3.16 0.930 D 1.47 0.008 N 0.037 0.017 -0.969 0.375 T 0.000 0.000 T . . . -1.852 0.010 0.002 0.759 0.109 0.013 0.046 N . . . 0.158 0.175 . . . 1.2 0.201 0.923 0.282 -0.394 0.063 0.996 0.391 0.177 0.212 4.416 0.108 Fork head domain . . 0.9358 0.4849 0.9607 0.9333 0.9998 0.9934 0.9727 0.9437 0.9431 0.8476 0.4982 0.9480 0.9180 1 0.9955 0.9754 0.9587 hom 2255.31 71 X 55651001 . T C 2255.31 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8614;MQ=56.90;MQ0=0;QD=31.76;VQSLOD=5.6478;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2288,181,0 X 57313357 57313357 T C exonic FAAH2 synonymous SNV FAAH2:NM_174912:exon1:c.T99C:p.G33G 0.53 0.96 0.47 0.39 0.28 0.39 0.4100 0.9038 0.5140 0.3692 0.2205 0.3045 0.3810 0.4154 0.49 0.88 0.27 0.5 0.27 rs2516023 COSM3759529 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3502 0.9054 0.4661 0.4578 0.3399 0.1748 0.2512 0.3739 0.3575 0.4222 0.8924 0.4617 0.5341 0.3420 0.1730 0.2392 0.2694 hom 654.68 22 X 57313357 . T C 654.68 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;QD=29.76;VQSLOD=8.5377;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:54.16:688,54,0 X 57405163 57405163 T C exonic FAAH2 synonymous SNV FAAH2:NM_174912:exon6:c.T822C:p.R274R 0.92 0.71 0.96 1. 1. 1. 0.9740 0.7451 0.9910 1 1 0.9996 0.9937 0.9994 0.91 0.76 1. 0.66 0.97 rs4826543 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9801 0.7392 0.9899 0.9993 1 1 0.9994 0.9874 0.9996 0.9319 0.7493 0.9934 1 1 1 0.9993 0.9916 hom 1364.72 39 X 57405163 . T C 1364.72 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.41;MQ0=0;QD=34.99;VQSLOD=9.7111;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1398,111,0 X 65824986 65824986 C T exonic EDA2R nonsynonymous SNV EDA2R:NM_001242310:exon2:c.G170A:p.R57K,EDA2R:NM_001199687:exon3:c.G170A:p.R57K,EDA2R:NM_001324201:exon3:c.G154A:p.D52N,EDA2R:NM_001324206:exon3:c.G170A:p.R57K,EDA2R:NM_021783:exon3:c.G170A:p.R57K 0.67 0.044 0.84 1. 0.8 0.91 0.7988 0.1411 0.9214 0.9989 0.8063 0.8345 0.8639 0.9067 0.56 0.14 0.8 0.42 0.76 rs1385699 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.337 B 0.002 0.311 B 0.024 0.264 N 0.707 0.588 P 0.75 0.191 N 2.13 0.196 T 0.9 0.016 N 0.048 0.047 -0.868 0.507 T 0.000 0.000 T . . . 1.448 0.237 13.04 0.818 0.134 0.641 0.320 D . . . 0.711 0.228 . . . 4.04 0.461 2.357 0.435 0.768 0.311 1.000 0.715 1.000 0.888 12.700 0.562 TNFR/NGFR cysteine-rich region . . 0.7947 0.1187 0.9046 0.9070 0.9990 0.7587 0.8026 0.8066 0.8905 0.6277 0.1313 0.8869 0.9459 0.9970 0.7672 0.7993 0.7992 hom 925.38 28 X 65824986 . C T 925.38 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.17;MQ0=0;QD=33.05;VQSLOD=9.6083;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:78.24:958,78,0 X 69510335 69510335 C T exonic KIF4A synonymous SNV KIF4A:NM_012310:exon2:c.C27T:p.P9P 1. 1. 0.98 1. 0.99 1. 0.9927 0.9986 0.9950 1 0.9996 0.9883 0.9968 0.9987 0.99 1. 0.99 0.73 1. rs1199470 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9923 0.9988 0.9939 0.9678 0.9999 0.9991 0.9891 0.9918 0.9981 0.9940 0.9984 0.9871 0.9835 1 0.9981 0.9906 0.9915 hom 2799.43 91 X 69510335 . C T 2799.43 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=46.42;MQ0=1;QD=30.76;VQSLOD=4.6347;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,90:91:99:2832,223,0 X 69652762 69652762 A G exonic GDPD2 synonymous SNV GDPD2:NM_001171191:exon13:c.A1302G:p.R434R,GDPD2:NM_001171193:exon14:c.A1302G:p.R434R,GDPD2:NM_017711:exon15:c.A1539G:p.R513R,GDPD2:NM_001171192:exon16:c.A1692G:p.R564R 0.85 0.61 0.95 0.89 0.95 0.97 0.9237 0.6189 0.9661 0.9131 0.9733 0.9545 0.9315 0.9762 0.83 0.62 0.95 0.64 0.75 rs2296542 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9297 0.6114 0.9612 0.9198 0.9051 0.9680 0.9539 0.9406 0.9723 0.8670 0.6224 0.9581 0.9297 0.9099 0.9698 0.9578 0.9661 hom 940.95 33 X 69652762 . A G 940.95 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.43;MQ0=0;QD=28.51;VQSLOD=8.3294;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:72.23:974,72,0 X 69774517 69774517 A T exonic TEX11 synonymous SNV TEX11:NM_031276:exon26:c.T2274A:p.T758T,TEX11:NM_001003811:exon27:c.T2319A:p.T773T 0.98 0.91 1. 1. 1. 1. 0.9943 0.9450 0.9978 1 1 0.9997 1 0.9998 0.98 0.94 1. 0.72 0.97 rs4844240 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9955 0.9439 0.9976 0.9990 1 1 0.9997 0.9967 0.9996 0.9839 0.9421 0.9984 1 1 1 0.9997 0.9959 hom 654.54 22 X 69774517 . A T 654.54 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.20;MQ0=0;QD=29.75;VQSLOD=7.9396;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:54.17:688,54,0 X 70146398 70146398 A G exonic SLC7A3 synonymous SNV SLC7A3:NM_001048164:exon10:c.T1599C:p.S533S,SLC7A3:NM_032803:exon10:c.T1599C:p.S533S 0.81 0.75 0.81 0.99 0.63 0.91 0.7852 0.7822 0.8842 0.9981 0.7485 0.7094 0.7604 0.8901 0.69 0.76 0.65 0.61 0.46 rs4360450 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7451 0.7610 0.8604 0.6402 0.9974 0.6802 0.6514 0.7105 0.8725 0.7124 0.7471 0.8331 0.6448 0.996 0.6854 0.6649 0.7380 hom 343.63 11 X 70146398 . A G 343.63 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.24;VQSLOD=13.1372;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:377,30,0 X 70324157 70324157 C T exonic CXorf65 synonymous SNV CXorf65:NM_001025265:exon5:c.G417A:p.A139A 0.11 0.026 0.18 0.0013 0.34 0.064 0.2440 0.0580 0.1449 0.0012 0.2975 0.3488 0.3058 0.1301 0.23 0.063 0.32 0.043 0.18 rs1130009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2193 0.0499 0.1268 0.4239 0.0016 0.2631 0.3085 0.2741 0.1098 0.2119 0.0549 0.1593 0.3913 0.0020 0.2747 0.3010 0.2468 hom 442.20 16 X 70324157 . C T 442.20 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=27.64;VQSLOD=12.9276;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:36.11:475,36,0 X 70349947 70349947 A C exonic MED12 synonymous SNV MED12:NM_005120:exon28:c.A3930C:p.P1310P 0.11 0.022 0.18 0.0013 0.34 0.064 0.2461 0.0566 0.1410 0.0013 0.3289 0.3506 0.3245 0.1272 0.23 0.057 0.32 0.043 0.3 rs5030619 COSM3759538;COSM3759537;COSM5831323 1(large_intestine) other not_specified RCV000081261.10 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2200 0.0488 0.1264 0.4064 0.0015 0.2633 0.3118 0.2755 0.1121 0.2093 0.0513 0.1607 0.3804 0.0010 0.2770 0.3003 0.2431 hom 542.72 19 X 70349947 . A C 542.72 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.56;VQSLOD=13.6394;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:48.14:576,48,0 X 71349753 71349753 G A exonic RTL5 synonymous SNV RTL5:NM_001024455:exon1:c.C1638T:p.R546R 0.31 0.051 0.5 0.039 0.78 0.31 0.6002 0.1199 0.5274 0.0390 0.8148 0.7846 0.6467 0.4164 0.57 0.16 0.79 0.17 . rs12397326 COSM4157010 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5977 0.1064 0.5285 0.6501 0.0390 0.8135 0.7845 0.6577 0.3950 0.5607 0.1196 0.5443 0.6966 0.0360 0.8128 0.7832 0.7037 hom 873.13 27 X 71349753 . G A 873.13 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=32.34;VQSLOD=8.9174;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:81.20:906,81,0 X 71349774 71349774 T C exonic RTL5 synonymous SNV RTL5:NM_001024455:exon1:c.A1617G:p.G539G 0.39 0.13 0.56 0.16 0.78 0.43 0.6372 0.2061 0.5871 0.1807 0.8188 0.7901 0.6748 0.5057 0.61 0.24 0.79 0.25 . rs12393722 COSM4157011 1(kidney);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6407 0.1939 0.5891 0.6544 0.1823 0.8187 0.7943 0.6863 0.4977 0.5958 0.1965 0.5845 0.6927 0.1702 0.8158 0.7937 0.7190 hom 906.75 28 X 71349774 . T C 906.75 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4923;MQ=59.17;MQ0=0;QD=32.38;VQSLOD=9.6465;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:75.21:940,75,0 X 71379702 71379702 T C exonic FLJ44635 nonsynonymous SNV FLJ44635:NM_207422:exon2:c.T23C:p.I8T 0.36 0.28 0.52 0.042 0.72 0.32 0.5932 0.3199 0.5316 0.0413 0.7164 0.7420 0.6115 0.4218 0.58 0.32 0.74 0.24 . rs7884806 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5831 0.3143 0.5327 0.6446 0.0426 0.7113 0.7409 0.6390 0.3779 0.5753 0.3180 0.5444 0.6723 0.0464 0.7169 0.7324 0.6457 hom 1408.48 47 X 71379702 . T C 1408.48 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.20;MQ0=0;QD=29.97;VQSLOD=8.7046;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1441,114,0 X 71379853 71379853 C T exonic FLJ44635 synonymous SNV FLJ44635:NM_207422:exon2:c.C174T:p.S58S 0.36 0.28 0.52 0.042 0.72 0.32 0.5813 0.3180 0.5299 0.0411 0.7114 0.7380 0.6013 0.4008 0.59 0.32 0.74 0.23 . rs7880917 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5857 0.3143 0.5346 0.6563 0.0429 0.7111 0.7413 0.6445 0.3979 0.5770 0.3212 0.5475 0.6898 0.0495 0.7165 0.7318 0.6515 hom 1645.68 49 X 71379853 . C T 1645.68 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.59;VQSLOD=13.0681;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1679,129,0 X 71401607 71401607 G A exonic PIN4 nonsynonymous SNV PIN4:NM_001170747:exon1:c.G47A:p.R16Q,PIN4:NM_006223:exon1:c.G47A:p.R16Q 0.71 0.6 0.8 0.54 0.97 0.72 0.8640 0.6334 0.8622 0.5309 0.9424 0.9598 0.8689 0.7812 0.84 0.63 0.96 0.59 0.84 rs6525589 COSM1469288 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.037 T 0.0 0.026 B 0.0 0.013 B 0.055 0.021 N 1 0.090 P . . . . . . -0.1 0.085 N 0.005 0.001 -0.981 0.349 T 0.000 0.000 T . . . 0.798 0.170 9.452 0.827 0.138 0.007 0.029 N . . . 1.000 0.747 . . . -2.0 0.070 -1.555 0.023 -1.663 0.008 0.000 0.063 0.001 0.043 5.576 0.164 . . . 0.8651 0.6242 0.8524 0.9120 0.5324 0.9368 0.9611 0.8982 0.7701 0.8411 0.6306 0.8560 0.9176 0.5327 0.9371 0.9558 0.8969 hom 417.34 12 X 71401607 . G A 417.34 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.04;MQ0=0;QD=34.78;VQSLOD=8.6643;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:450,36,0 X 71401614 71401614 C A exonic PIN4 nonsynonymous SNV PIN4:NM_001170747:exon1:c.C54A:p.S18R,PIN4:NM_006223:exon1:c.C54A:p.S18R 0.71 0.6 0.8 0.54 0.97 0.72 0.8649 0.6342 0.8643 0.5333 0.9429 0.9600 0.8685 0.7820 0.84 0.63 0.96 0.59 0.82 rs7058353 COSM1469289 1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.209 0.034 N 1 0.090 P . . . . . . 0.64 0.031 N 0.012 0.002 -1.002 0.295 T 0.000 0.000 T . . . -0.498 0.056 0.222 0.594 0.061 0.008 0.032 N . . . 1.000 0.747 . . . -4.79 0.029 -0.759 0.048 -1.944 0.005 0.000 0.063 0.000 0.016 3.972 0.089 . . . 0.8651 0.6237 0.8525 0.9120 0.5326 0.9364 0.9610 0.8982 0.7701 0.8399 0.6288 0.8590 0.9171 0.5278 0.9367 0.9557 0.8969 hom 450.06 13 X 71401614 . C A 450.06 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=56.35;MQ0=0;QD=34.62;VQSLOD=6.2170;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:483,39,0 X 71493691 71493691 C T exonic RPS4X synonymous SNV RPS4X:NM_001007:exon5:c.G492A:p.L164L 0.3 0.096 0.49 0.012 0.74 0.3 0.5794 0.1565 0.5230 0.0087 0.7423 0.7689 0.6214 0.3809 0.55 0.16 0.77 0.16 0.73 rs7580 COSM1469302 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5823 0.1408 0.5249 0.6769 0.0086 0.7443 0.7691 0.6450 0.3630 0.5476 0.1461 0.5148 0.7033 0.0050 0.7467 0.7648 0.6490 hom 1680.57 53 X 71493691 . C T 1680.57 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=31.71;VQSLOD=8.9500;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1714,132,0 X 71521867 71521867 G C exonic CITED1 nonsynonymous SNV CITED1:NM_001144886:exon3:c.C288G:p.H96Q,CITED1:NM_001144887:exon3:c.C288G:p.H96Q,CITED1:NM_004143:exon3:c.C288G:p.H96Q,CITED1:NM_001144885:exon4:c.C366G:p.H122Q 0.81 0.99 0.79 0.47 0.86 0.87 0.8534 0.9799 0.7402 0.4979 0.8309 0.8917 0.8738 0.8988 0.91 0.97 0.88 0.47 0.74 rs3012627 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.201 P -1.14 0.009 N 0.07 0.617 T 0.63 0.033 N 0.038 0.323 -0.952 0.407 T 0.000 0.000 T . . . -0.497 0.056 0.224 0.615 0.066 0.019 0.058 N . . . 0.998 0.367 . . . 2.83 0.320 1.612 0.363 -0.866 0.028 1.000 0.715 0.985 0.512 6.333 0.204 . . . 0.8275 0.9801 0.7333 0.8806 0.4647 0.8101 0.8812 0.8448 0.8840 0.8698 0.9713 0.7476 0.875 0.4331 0.8099 0.8795 0.8354 hom 448.33 14 X 71521867 . G C 448.33 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.54;MQ0=0;QD=32.02;VQSLOD=8.6388;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:481,39,0 X 74494470 74494470 T G exonic UPRT synonymous SNV UPRT:NM_001307944:exon1:c.T381G:p.R127R,UPRT:NM_145052:exon1:c.T381G:p.R127R 0.93 0.73 0.97 1. 1. 1. 0.9726 0.7468 0.9904 1 1 0.9997 0.9883 0.9997 0.9 0.74 1. 0.7 0.89 rs4892396 COSM4157019;COSM4157020 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9780 0.7329 0.9889 1 1 1 0.9996 0.9887 0.9998 0.9296 0.7446 0.9742 1 1 1 0.9993 0.9917 hom 642.70 22 X 74494470 . T G 642.70 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=29.21;VQSLOD=8.5911;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:51.16:676,51,0 X 77298857 77298857 G A exonic ATP7A nonsynonymous SNV ATP7A:NM_001282224:exon20:c.G3814A:p.E1272K,ATP7A:NM_000052:exon21:c.G4048A:p.E1350K 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.73 0.98 rs4826245 COSM4591368 23(upper_aerodigestive_tract) Benign not_specified RCV000078036.6 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 3707.41 118 X 77298857 . G A 3707.41 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=31.42;VQSLOD=8.8402;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3707,289,0 X 77528317 77528317 G A exonic CYSLTR1 synonymous SNV CYSLTR1:NM_001282186:exon2:c.C927T:p.F309F,CYSLTR1:NM_006639:exon3:c.C927T:p.F309F,CYSLTR1:NM_001282187:exon4:c.C927T:p.F309F,CYSLTR1:NM_001282188:exon4:c.C927T:p.F309F 0.66 0.63 0.64 0.61 0.8 0.63 0.7314 0.6565 0.6527 0.6357 0.7909 0.7862 0.7452 0.6413 0.74 0.66 0.79 0.4 0.85 rs320995 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7316 0.6569 0.6468 0.8303 0.6291 0.7873 0.7878 0.7507 0.6419 0.7402 0.6567 0.6909 0.7968 0.6276 0.7900 0.7849 0.7750 hom 902.93 29 X 77528317 . G A 902.93 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.14;VQSLOD=13.6595;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:75.23:936,75,0 X 77913569 77913569 G A exonic RTL3 nonsynonymous SNV RTL3:NM_152694:exon2:c.C349T:p.P117S 0.09 0.14 0.09 0.013 0.14 0.049 0.1165 0.1595 0.0588 0.0100 0.0955 0.1454 0.1032 0.0545 0.15 0.16 0.15 0.065 0.082 rs4077512 COSM3759547 1(large_intestine) . . . . . . . . . . . 0.011 0.555 D 0.028 0.184 B 0.004 0.093 B . . . 1 0.090 P -0.145 0.044 N 2.25 0.178 T -0.83 0.227 N 0.015 0.002 -0.955 0.402 T 0.000 0.000 T . . . -1.118 0.028 0.009 0.558 0.053 0.029 0.076 N . . . 0.998 0.362 . . . -1.08 0.094 -1.072 0.035 -0.323 0.076 0.000 0.063 0.003 0.074 4.312 0.103 . . . 0.1094 0.1535 0.0628 0.1965 0.0091 0.0912 0.1411 0.1235 0.0466 0.1232 0.1381 0.0816 0.2265 0.0100 0.0852 0.1353 0.1402 hom 379.86 14 X 77913569 . G A 379.86 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.33;MQ0=0;QD=27.13;VQSLOD=7.5195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:36.10:413,36,0 X 79698593 79698593 C G exonic FAM46D nonsynonymous SNV FAM46D:NM_152630:exon3:c.C555G:p.D185E,FAM46D:NM_001170574:exon5:c.C555G:p.D185E 0.37 0.35 0.56 0.081 0.68 0.24 0.5574 0.3903 0.5180 0.0942 0.6711 0.7073 0.5429 0.2783 0.59 0.39 0.71 0.22 0.61 rs1113265 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.003 0.080 B 0.007 0.011 N 1 0.090 P 0.735 0.189 N 2.03 0.210 T 0.57 0.026 N 0.027 0.009 -0.928 0.444 T 0.000 0.000 T . . . -2.379 0.004 0.001 0.504 0.043 0.109 0.161 N . . . 0.972 0.292 . . . -8.75 0.007 -0.667 0.053 -2.692 0.002 0.101 0.226 0.900 0.381 3.188 0.062 FAM46 family . . 0.5607 0.3784 0.5270 0.6556 0.0904 0.6610 0.7115 0.6054 0.2816 0.5785 0.3787 0.5452 0.5934 0.1007 0.6538 0.7172 0.5899 hom 587.31 17 X 79698593 . C G 587.31 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.80;MQ0=0;QD=34.55;VQSLOD=8.5809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:51.14:620,51,0 X 79943569 79943569 T C exonic BRWD3 nonsynonymous SNV BRWD3:NM_153252:exon34:c.A3863G:p.K1288R 0.99 0.96 1. 1. 1. 1. 0.9972 0.9725 0.9992 1 1 0.9999 1 0.9999 0.99 0.97 1. 0.72 1. rs3122407 . . Benign not_specified RCV000371280.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.041 0.239 N 1.000 0.090 P -1.22 0.008 N 2.18 0.189 T 1.32 0.009 N 0.023 0.022 -0.971 0.370 T 0.000 0.000 T . . . 0.491 0.141 7.363 0.081 0.001 0.121 0.168 N . . . 0.001 0.075 . . . 4.11 0.472 0.520 0.224 0.069 0.176 0.984 0.356 0.992 0.562 9.325 0.370 Bromodomain . . 0.9979 0.9710 0.9994 1 1 1 0.9999 0.9995 0.9999 0.9916 0.9697 0.9968 1 1 1 0.9999 1 hom 1395.85 50 X 79943569 . T C 1395.85 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;QD=27.92;VQSLOD=8.3613;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1429,105,0 X 82764040 82764040 A G exonic POU3F4 synonymous SNV POU3F4:NM_000307:exon1:c.A708G:p.E236E 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . . 0.98 rs5921978 COSM4157034;COSM4157035 1(thyroid);1(upper_aerodigestive_tract) Benign not_specified RCV000036259.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 2553.23 81 X 82764040 . A G 2553.23 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5317;MQ=59.08;MQ0=0;QD=31.52;VQSLOD=9.5767;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2586,202,0 X 82764042 82764042 G C exonic POU3F4 nonsynonymous SNV POU3F4:NM_000307:exon1:c.G710C:p.G237A 0.99 0.99 1. 1. 1. 0.98 1 1 1 1 1 1 1 1 . . . . 0.98 rs5921979 COSM1180653;COSM4157036 1(thyroid);24(upper_aerodigestive_tract) Benign not_specified RCV000036257.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 2451.68 79 X 82764042 . G C 2451.68 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6106;MQ=59.06;MQ0=0;QD=31.03;VQSLOD=8.1730;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:79:99:2485,193,0 X 84563135 84563135 T A exonic POF1B nonsynonymous SNV POF1B:NM_001307940:exon10:c.A1045T:p.M349L,POF1B:NM_024921:exon10:c.A1045T:p.M349L 0.91 0.96 0.88 0.95 0.81 0.94 0.8530 0.9417 0.9117 0.9765 0.8320 0.7932 0.8481 0.9300 0.83 0.93 0.77 0.65 0.75 rs363774 COSM4157042;COSM4157043 1(thyroid) Benign Premature_ovarian_failure_2b RCV000367385.1 MedGen:OMIM C1845105:300604 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1 0.090 P -2.175 0.001 N -1.55 0.817 D 1.11 0.012 N 0.079 0.071 -0.947 0.415 T 0.000 0.000 T . . . 0.982 0.188 10.56 0.694 0.087 0.060 0.119 N . . . 0.000 0.059 . . . 3.52 0.393 0.867 0.274 0.242 0.267 1.000 0.715 0.991 0.552 4.783 0.125 . . . 0.8389 0.9389 0.9002 0.8474 0.9698 0.8171 0.7733 0.8129 0.9144 0.8397 0.9340 0.8758 0.8783 0.9742 0.8185 0.7776 0.8164 hom 782.46 24 X 84563135 . T A 782.46 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.05;MQ0=0;QD=32.60;VQSLOD=8.0249;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:66.20:815,66,0 X 85219021 85219021 T C exonic CHM synonymous SNV CHM:NM_000390:exon5:c.A351G:p.A117A 0.12 0.013 0.14 0.14 0.26 0.079 0.1915 0.0335 0.1347 0.1181 0.1950 0.2589 0.2362 0.0992 0.17 0.039 0.24 0.11 0.31 rs10217950 COSM3759551 1(large_intestine) Benign not_specified RCV000247183.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1877 0.0311 0.1350 0.2607 0.1154 0.1849 0.2552 0.2207 0.0928 0.1602 0.0347 0.1516 0.2151 0.0939 0.1768 0.2312 0.1728 hom 1009.02 33 X 85219021 . T C 1009.02 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.58;VQSLOD=13.0649;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:87.25:1042,87,0 X 86887244 86887244 C T exonic KLHL4 synonymous SNV KLHL4:NM_019117:exon7:c.C1359T:p.T453T,KLHL4:NM_057162:exon7:c.C1359T:p.T453T 0.56 0.43 0.42 0.57 0.76 0.62 0.6555 0.4445 0.4116 0.5570 0.7366 0.7510 0.6937 0.6300 0.63 0.44 0.74 0.4 0.67 rs222084 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6470 0.4417 0.4173 0.7450 0.5537 0.7271 0.7491 0.6681 0.6216 0.6438 0.4332 0.4646 0.8 0.5499 0.7371 0.75 0.7059 hom 1280.72 44 X 86887244 . C T 1280.72 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.51;MQ0=0;QD=29.11;VQSLOD=8.0632;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1314,99,0 X 88008423 88008423 A C exonic CPXCR1 nonsynonymous SNV CPXCR1:NM_001184771:exon3:c.A8C:p.Y3S,CPXCR1:NM_033048:exon3:c.A8C:p.Y3S 0.91 0.97 0.91 0.92 0.86 0.88 0.9067 0.9702 0.9214 0.9280 0.8911 0.8895 0.8990 0.8951 0.91 0.97 0.87 0.69 0.43 rs5940915 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.047 0.234 N 1.000 0.182 P -0.805 0.016 N 2.0 0.215 T 5.44 0.000 N 0.044 0.287 -1.001 0.296 T 0.000 0.000 T . . . 0.945 0.184 10.34 0.682 0.083 0.001 0.007 N . . . 0.000 0.035 . . . 3.28 0.365 0.609 0.238 0.015 0.141 0.778 0.292 0.978 0.483 7.155 0.246 . . . 0.8821 0.9694 0.8981 0.8911 0.9176 0.8617 0.8648 0.8778 0.8482 0.9024 0.9706 0.9095 0.9034 0.9425 0.8520 0.8739 0.8811 hom 337.31 13 X 88008423 . A C 337.31 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.95;VQSLOD=12.9608;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:27.09:370,27,0 X 89177673 89177673 G A exonic TGIF2LX nonsynonymous SNV TGIF2LX:NM_138960:exon2:c.G589A:p.V197I 0.73 0.92 0.79 0.66 0.65 0.56 0.6990 0.9056 0.7857 0.6469 0.7136 0.6763 0.7352 0.5777 0.76 0.9 0.68 0.59 0.65 rs2290380 COSM3759553 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.583 0.059 T 0.0 0.026 B 0.0 0.013 B 0.062 0.022 N 1 0.090 P -0.895 0.014 N -0.05 0.634 T -0.63 0.185 N 0.008 0.000 -0.979 0.353 T 0.000 0.000 T . . . -0.473 0.057 0.257 0.926 0.214 0.000 0.001 N . . . 0.000 0.063 . . . 0.387 0.154 0.303 0.188 -0.352 0.070 0.000 0.063 0.000 0.016 5.736 0.172 . . . 0.6977 0.9156 0.7785 0.6339 0.6450 0.7081 0.6788 0.6943 0.5767 0.7560 0.9082 0.7707 0.6776 0.6556 0.7041 0.6944 0.7357 hom 1005.28 32 X 89177673 . G A 1005.28 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.43;MQ0=0;QD=31.42;VQSLOD=8.5265;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:84.25:1038,84,0 X 99661969 99661969 G A exonic PCDH19 synonymous SNV PCDH19:NM_001105243:exon1:c.C1627T:p.L543L,PCDH19:NM_001184880:exon1:c.C1627T:p.L543L,PCDH19:NM_020766:exon1:c.C1627T:p.L543L 0.086 0.027 0.16 0.0013 0.24 0.042 0.2067 0.0515 0.2334 0.0002 0.2740 0.2763 0.2128 0.0789 0.2 0.048 0.29 0.076 0.3 rs1953337 COSM3759554 1(large_intestine) Benign not_specified RCV000079603.6 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2099 0.0446 0.2255 0.1708 7.771e-05 0.2752 0.2843 0.2125 0.0826 0.2022 0.0471 0.2204 0.1913 0 0.2637 0.2906 0.2482 hom 6277.34 198 X 99661969 . G A 6277.34 Mask AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6270;MQ=59.30;MQ0=0;QD=31.70;VQSLOD=8.6112;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,198:198:99:6276,506,0 X 99849017 99849017 G A exonic TNMD synonymous SNV TNMD:NM_022144:exon3:c.G306A:p.V102V 0.47 0.43 0.48 0.68 0.4 0.38 0.4031 0.4407 0.4404 0.6711 0.3527 0.3625 0.4215 0.3738 0.39 0.43 0.36 0.36 0.41 rs2073162 COSM3759556 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4016 0.4386 0.4559 0.3918 0.6739 0.3460 0.3552 0.4070 0.3638 0.3947 0.4416 0.4443 0.3708 0.6778 0.3538 0.3505 0.3791 hom 861 32 X 99849017 . G A 861 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=26.91;VQSLOD=7.3563;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:72.21:894,72,0 X 99941705 99941705 T C exonic SYTL4 nonsynonymous SNV SYTL4:NM_001174068:exon12:c.A1258G:p.I420V,SYTL4:NM_001129896:exon13:c.A1258G:p.I420V,SYTL4:NM_080737:exon14:c.A1258G:p.I420V 0.93 0.76 0.98 1. 1. 1. 0.9754 0.7610 0.9918 1 1 0.9991 0.9889 0.9994 0.91 0.77 1. 0.65 0.98 rs2022039 . . . . . . . . . . . . . 0.691 0.043 T 0.001 0.067 B 0.003 0.080 B 0.086 0.206 N 1.000 0.332 P 0.025 0.080 N 3.21 0.071 T -0.12 0.088 N 0.063 0.067 -0.899 0.481 T 0.000 0.000 T . . . -1.917 0.009 0.001 0.253 0.012 0.106 0.159 N . . . 1.000 0.747 . . . -5.45 0.024 -0.094 0.110 0.144 0.231 0.001 0.137 0.988 0.529 17.867 0.887 C2 domain . . 0.9803 0.7481 0.9902 0.9915 0.9999 1 0.9994 0.9899 0.9992 0.9308 0.7494 0.9839 0.9894 1 0.9996 0.9989 0.9834 hom 1329.51 41 X 99941705 . T C 1329.51 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.87;MQ0=0;QD=32.43;VQSLOD=9.4385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:99:1363,105,0 X 100490933 100490933 G C exonic DRP2 nonsynonymous SNV DRP2:NM_001939:exon4:c.G202C:p.V68L 0.11 0.13 0.13 0.094 0.15 0.033 0.1120 0.1355 0.0856 0.0760 0.0823 0.1341 0.1137 0.0481 0.13 0.14 0.13 0.14 0.098 rs7066252 COSM3759315 1(large_intestine) . . . . . . . . . . . 0.071 0.351 T 0.0 0.026 B 0.0 0.013 B 0.869 0.088 N 0.988 0.588 P 1.245 0.315 L 3.43 0.055 T -1.0 0.264 N 0.043 0.023 -0.923 0.452 T 0.000 0.000 T . . . 0.983 0.188 10.56 0.964 0.291 0.768 0.374 D . . . 1.000 0.424 . . . -1.66 0.078 -0.557 0.060 1.048 0.713 0.849 0.302 0.960 0.441 1.136 0.016 . . . 0.1110 0.1371 0.0953 0.1465 0.0766 0.0822 0.1344 0.1395 0.0465 0.1167 0.1312 0.1072 0.1421 0.0870 0.0741 0.1238 0.0944 hom 5835.40 184 X 100490933 . G C 5835.40 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.123;DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1162;MQ=59.57;MQ0=0;MQRankSum=-1.259;QD=31.71;ReadPosRankSum=0.274;VQSLOD=7.0188;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,182:184:99:5798,426,0 X 100532621 100532621 T C exonic TAF7L nonsynonymous SNV TAF7L:NM_001168474:exon9:c.A664G:p.S222G,TAF7L:NM_024885:exon9:c.A922G:p.S308G 0.18 0.25 0.14 0.27 0.16 0.043 0.1482 0.2409 0.1179 0.2800 0.0974 0.1406 0.1477 0.0651 0.18 0.25 0.14 0.22 0.066 rs35899692 COSM3759316 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.362 0.043 N 1 0.090 P -1.61 0.004 N 3.68 0.225 T 1.26 0.017 N 0.017 0.003 -1.016 0.248 T 0.000 0.000 T . . . -1.808 0.011 0.002 0.136 0.003 0.001 0.005 N . . . 0.295 0.191 . . . 3.35 0.373 2.380 0.437 -0.058 0.122 0.052 0.213 0.000 0.016 11.198 0.478 TAFII55 protein\x2c conserved region . . 0.1404 0.2447 0.1167 0.1659 0.2678 0.0958 0.1366 0.1533 0.0585 0.1550 0.2322 0.1201 0.1420 0.2553 0.0866 0.1255 0.1001 hom 5463.22 192 X 100532621 . T C 5463.22 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3493;MQ=58.69;MQ0=0;QD=28.45;VQSLOD=7.7121;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:5462,433,0 X 100547933 100547933 A G exonic TAF7L nonsynonymous SNV TAF7L:NM_024885:exon1:c.T101C:p.L34P 0.99 1. 1. 1. 0.99 0.99 0.9905 0.9985 0.9965 1 0.9817 0.9866 0.9968 0.9939 0.99 1. 0.99 0.74 0.98 rs5951328 . . . . . . . . . . . . . 0.913 0.023 T 0.0 0.026 B 0.0 0.013 B 0.068 0.022 N 1 0.090 P -0.345 0.033 N 2.47 0.148 T 1.77 0.005 N 0.017 0.003 -0.966 0.379 T 0.000 0.000 T . . . -0.890 0.036 0.027 0.368 0.024 0.001 0.009 N . . . 0.026 0.137 . . . -2.79 0.055 -1.277 0.029 -1.123 0.018 0.000 0.063 0.002 0.062 11.476 0.494 . . . 0.9910 0.9982 0.9971 0.9968 1 0.9847 0.9864 0.9889 0.9943 0.9899 0.9975 0.9984 1 1 0.9878 0.9847 0.9887 hom 7909.77 250 X 100547933 . A G 7909.77 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7933;MQ=59.39;MQ0=0;QD=31.64;VQSLOD=7.9453;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7909,611,0 X 100808222 100808222 C T exonic ARMCX1 synonymous SNV ARMCX1:NM_016608:exon4:c.C309T:p.G103G 0.026 0.007 0.048 . 0.081 0.0084 0.0604 0.0142 0.0259 0 0.0663 0.0926 0.0542 0.0158 0.07 0.016 0.1 0.011 0.11 rs1044275 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0580 0.0119 0.0258 0.0413 7.771e-05 0.0612 0.0963 0.0546 0.0154 0.0603 0.0155 0.0243 0.0374 0 0.0621 0.0943 0.0515 hom 1097.39 36 X 100808222 . C T 1097.39 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6498;MQ=60.00;MQ0=0;QD=30.48;VQSLOD=8.2084;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1130,99,0 X 100911066 100911066 C T exonic ARMCX2 synonymous SNV ARMCX2:NM_014782:exon5:c.G1509A:p.Q503Q,ARMCX2:NM_001282231:exon6:c.G1509A:p.Q503Q,ARMCX2:NM_177949:exon6:c.G1509A:p.Q503Q 0.97 0.99 0.95 1. 0.9 0.98 0.9426 0.9852 0.9591 1 0.9556 0.9152 0.9209 0.9799 0.94 0.98 0.92 0.74 0.77 rs3850315 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9424 0.9864 0.9606 0.9047 1 0.9542 0.9139 0.9243 0.9773 0.9478 0.9824 0.9642 0.8877 1 0.9651 0.9195 0.9404 hom 4147.26 131 X 100911066 . C T 4147.26 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.07;MQ0=0;QD=31.66;VQSLOD=8.9835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4147,334,0 X 101138792 101138792 T C exonic ZMAT1 nonsynonymous SNV ZMAT1:NM_001011657:exon7:c.A1607G:p.Q536R,ZMAT1:NM_001282401:exon9:c.A1094G:p.Q365R,ZMAT1:NM_001282400:exon10:c.A1094G:p.Q365R 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 0.74 1. rs5944882 COSM4590055;COSM4590056 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 1935.72 67 X 101138792 . T C 1935.72 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=28.89;VQSLOD=8.8369;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:1969,162,0 X 102979486 102979486 T C exonic GLRA4 nonsynonymous SNV GLRA4:NM_001024452:exon3:c.A253G:p.I85V,GLRA4:NM_001172285:exon3:c.A253G:p.I85V 0.99 1. 0.99 1. 0.95 1. 0.9693 0.9949 0.9920 1 0.9212 0.9545 0.9672 0.9993 0.96 0.99 0.95 0.74 0.91 rs4907817 . . . . . . . . . . . . . 0.404 0.103 T 0.001 0.067 B 0.015 0.298 B 0.000 0.629 N 0.994 0.235 P 1.565 0.397 L -0.87 0.746 T -0.61 0.181 N 0.026 0.008 -0.912 0.467 T 0.000 0.000 T . . . 0.452 0.137 7.056 0.850 0.151 0.046 0.101 N . . . 0.912 0.264 . . . 4.93 0.643 0.414 0.207 0.069 0.176 0.039 0.207 0.915 0.391 8.468 0.319 Neurotransmitter-gated ion-channel ligand-binding domain . . 0.9674 0.9956 0.9902 0.9889 1 0.9106 0.9524 0.9655 0.9994 0.9548 0.9927 0.9807 0.9946 0.9990 0.9090 0.9396 0.9392 hom 1562.77 54 X 102979486 . T C 1562.77 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;QD=28.94;VQSLOD=8.4251;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1596,126,0 X 103267865 103267865 C T exonic H2BFWT nonsynonymous SNV H2BFWT:NM_001002916:exon1:c.G368A:p.R123H 0.58 0.58 0.41 0.61 0.67 0.59 0.5977 0.5903 0.2741 0.5975 0.6334 0.6645 0.5774 0.5716 0.64 0.59 0.67 0.35 0.64 rs553509 COSM4998301 2(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5867 0.5843 0.2971 0.6579 0.6045 0.6460 0.6646 0.6068 0.5724 0.6274 0.5822 0.3290 0.6685 0.6334 0.6619 0.6627 0.5944 hom 1152.32 39 X 103267865 . C T 1152.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.730;DP=39;Dels=0.00;FS=3.493;HRun=0;HaplotypeScore=1.8315;MQ=60.00;MQ0=0;MQRankSum=1.641;QD=29.55;ReadPosRankSum=1.277;VQSLOD=3.4878;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,37:39:68.33:1185,68,0 X 104464277 104464277 A - exonic;splicing TEX13A;TEX13A NM_001291277:exon4:c.598+2T>-;NM_031274:exon4:c.598+2T>- frameshift deletion TEX13A:NM_001291277:exon5:c.599delT:p.V200Gfs*152,TEX13A:NM_031274:exon5:c.599delT:p.V200Gfs*152 1. 1. 1. 1. 1. 1. 0.9997 0.9998 0.9997 0.9996 0.9982 0.9998 1 0.9998 . . . . . rs868974583 COSM3723844;COSM3723845 2(upper_aerodigestive_tract);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9991 0.9993 0.9986 0.9983 0.9989 0.9990 0.9994 1 0.9984 1 1 1 1 1 1 1 1 hom 1146.53 32 X 104464276 . CA C 1146.53 Mask AC=2;AF=1.00;AN=2;DP=32;FS=0.000;HRun=2;HaplotypeScore=197.6542;MQ=31.83;MQ0=0;QD=35.83;set=variant2 GT:AD:DP:GQ:PL 1/1:4,28:32:93.29:1189,93,0 X 105153001 105153001 A G exonic NRK synonymous SNV NRK:NM_198465:exon13:c.A1368G:p.K456K 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 0.74 . rs209372 COSM4594518 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 1219.99 38 X 105153001 . A G 1219.99 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.11;VQSLOD=13.3880;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1253,99,0 X 106016268 106016268 A T exonic RNF128 nonsynonymous SNV RNF128:NM_024539:exon2:c.A532T:p.N178Y,RNF128:NM_194463:exon2:c.A610T:p.N204Y 0.0005 . . . 0.0026 . 0.0058 0.0006 0 0 0.0024 0.0102 0 0 0.0062 0.0013 0.0089 . . rs56121637 . . . . . . . . . . . . . 0.002 0.721 D 1.0 0.899 D 0.976 0.769 D 0.000 0.629 D 1.000 0.513 D 2.165 0.608 M 1.39 0.338 T -4.97 0.820 D 0.816 0.842 -0.720 0.595 T 0.165 0.503 T . . . 5.474 0.743 26.2 0.994 0.644 0.953 0.640 D . . . 0.989 0.318 . . . 5.83 0.930 5.983 0.700 1.199 0.960 1.000 0.715 1.000 0.888 13.854 0.629 PA domain . . 0.0058 0.0006 0.0003 0.0332 0 0.0026 0.0089 0.0059 5.226e-05 0.0048 0.0005 0.0016 0.0323 0 0.0034 0.0072 0.0112 hom 2558.76 94 X 106016268 . A T 2558.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.663;DP=94;Dels=0.00;FS=3.664;HRun=0;HaplotypeScore=1.7608;MQ=59.75;MQ0=0;MQRankSum=0.700;QD=27.22;ReadPosRankSum=1.437;VQSLOD=3.1283;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,93:94:99:2592,175,0 X 106200202 106200202 G A exonic MORC4 nonsynonymous SNV MORC4:NM_001085354:exon12:c.C1418T:p.T473I,MORC4:NM_024657:exon12:c.C1418T:p.T473I 0.75 0.87 0.76 0.93 0.42 0.75 0.5719 0.8172 0.8103 0.9338 0.4027 0.4181 0.5206 0.7168 0.57 0.81 0.43 0.58 0.39 rs6622126 COSM5000909 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.793 0.067 N 1 0.090 P -1.32 0.007 N 2.74 0.117 T -0.31 0.121 N 0.015 0.031 -1.010 0.271 T 0.000 0.000 T . . . -0.994 0.032 0.016 0.387 0.026 0.004 0.019 N . . . 1.000 0.489 . . . -3.74 0.041 -0.575 0.059 -1.223 0.015 0.061 0.216 0.538 0.277 0.387 0.004 . . . 0.5739 0.8219 0.7970 0.4653 0.9356 0.4068 0.4173 0.5207 0.7094 0.5633 0.8182 0.7565 0.4835 0.9207 0.3887 0.4243 0.4797 hom 3293.58 114 X 106200202 . G A 3293.58 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.49;MQ0=0;QD=28.89;VQSLOD=8.0827;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3293,253,0 X 106221389 106221389 T C exonic MORC4 nonsynonymous SNV MORC4:NM_001085354:exon8:c.A977G:p.N326S,MORC4:NM_024657:exon8:c.A977G:p.N326S 0.0066 . 0.0076 . 0.026 0.0014 0.0159 0.0025 0.0059 0.0002 0.0088 0.0255 0.0079 0.0048 0.017 0.0042 0.025 . 0.025 rs41304048 . . . . . . . . . . . . . 0.147 0.251 T 0.013 0.154 B 0.006 0.112 B 0.006 0.322 N 1.000 0.213 N 1.675 0.433 L 2.65 0.128 T -2.58 0.556 D 0.015 0.013 -1.052 0.137 T 0.025 0.106 T . . . 0.211 0.114 4.793 0.884 0.174 0.742 0.360 D . . . 0.006 0.110 . . . 1.23 0.203 2.300 0.430 0.119 0.209 1.000 0.715 0.952 0.428 7.585 0.270 . . . 0.0160 0.0023 0.0061 0.0511 7.942e-05 0.0114 0.0240 0.0193 0.0047 0.0141 0.0022 0.0098 0.0591 0 0.0102 0.0219 0.0234 hom 2087.17 69 X 106221389 . T C 2087.17 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3639;MQ=59.12;MQ0=0;QD=30.25;VQSLOD=8.0665;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2120,163,0 X 106396402 106396402 A G exonic NUP62CL nonsynonymous SNV NUP62CL:NM_017681:exon7:c.T530C:p.I177T 0.48 0.87 0.43 0.44 0.2 0.32 0.3013 0.7681 0.4232 0.4937 0.1113 0.1826 0.2588 0.3194 0.39 0.75 0.18 0.41 0.25 rs1298577 COSM3759324 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.851 0.027 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.588 P -1.38 0.006 N 0.8 0.488 T 1.94 0.004 N 0.022 0.408 -1.006 0.281 T 0.000 0.000 T . . . -1.164 0.026 0.008 0.639 0.071 0.043 0.097 N . . . 1.000 0.747 . . . -4.01 0.038 2.227 0.424 -1.973 0.005 1.000 0.715 0.022 0.137 9.035 0.353 . . . 0.2773 0.7740 0.3915 0.2989 0.4747 0.1168 0.1704 0.2511 0.2798 0.3467 0.7759 0.3729 0.3846 0.4858 0.1117 0.1569 0.2280 hom 6352.88 221 X 106396402 . A G 6352.88 Mask AC=2;AF=1.00;AN=2;DP=221;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=28.75;VQSLOD=8.8722;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:6351,511,0 X 106396455 106396455 A G exonic NUP62CL synonymous SNV NUP62CL:NM_017681:exon7:c.T477C:p.R159R 0.48 0.87 0.42 0.44 0.2 0.32 0.2986 0.7678 0.4227 0.4937 0.1113 0.1825 0.2559 0.2991 0.39 0.75 0.18 0.39 0.25 rs1285590 COSM3759325 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2858 0.7787 0.4049 0.3105 0.4834 0.1185 0.1739 0.2624 0.2870 0.3466 0.7752 0.3674 0.3791 0.4881 0.1115 0.1576 0.2252 hom 4584.94 137 X 106396455 . A G 4584.94 Mask AC=2;AF=1.00;AN=2;DP=137;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8225;MQ=59.19;MQ0=0;QD=33.47;VQSLOD=7.6680;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4584,364,0 X 107418906 107418906 A G exonic COL4A6 synonymous SNV COL4A6:NM_001287759:exon29:c.T2808C:p.R936R,COL4A6:NM_001287760:exon29:c.T2808C:p.R936R,COL4A6:NM_001847:exon29:c.T2811C:p.R937R,COL4A6:NM_033641:exon29:c.T2808C:p.R936R,COL4A6:NM_001287758:exon30:c.T2859C:p.R953R 0.98 0.94 0.99 1. 1. 1. 0.9951 0.9526 0.9983 1 1 0.9999 0.9984 0.9997 0.98 0.95 1. 0.69 0.95 rs4623610 . . Benign not_specified RCV000241857.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9961 0.9497 0.9979 1 1 1 0.9999 0.9977 0.9998 0.9878 0.9552 0.9967 1 1 1 0.9999 0.9986 hom 2047.92 82 X 107418906 . A G 2047.92 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.80;MQ0=0;QD=24.97;VQSLOD=6.2449;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2081,156,0 X 107433688 107433688 A G exonic COL4A6 nonsynonymous SNV COL4A6:NM_001287758:exon20:c.T1360C:p.S454P,COL4A6:NM_001287759:exon20:c.T1360C:p.S454P,COL4A6:NM_001287760:exon20:c.T1360C:p.S454P,COL4A6:NM_001847:exon20:c.T1363C:p.S455P,COL4A6:NM_033641:exon20:c.T1360C:p.S454P 0.57 0.63 0.47 0.36 0.77 0.58 0.6851 0.6458 0.3599 0.3903 0.8511 0.7937 0.7516 0.6175 0.74 0.65 0.79 0.42 0.8 rs1042065 COSM4386364;COSM150805 1(stomach);1(upper_aerodigestive_tract);1(large_intestine) Benign not_specified RCV000241556.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.031 0.252 N 1.000 0.090 P -2.35 0.001 N -3.28 0.937 D 2.56 0.002 N 0.016 0.069 -0.958 0.395 T 0.000 0.000 T . . . 1.193 0.209 11.71 0.838 0.144 0.002 0.013 N . . . 0.989 0.316 . . . 0.71 0.172 0.077 0.145 -0.282 0.084 0.133 0.232 0.643 0.297 3.877 0.085 . . . 0.6727 0.6392 0.3644 0.8063 0.3839 0.8594 0.7899 0.7073 0.6026 0.7420 0.6605 0.4391 0.7598 0.4006 0.8677 0.8044 0.7532 hom 2097.29 70 X 107433688 . A G 2097.29 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7621;MQ=60.00;MQ0=0;QD=29.96;VQSLOD=8.1297;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2130,160,0 X 108708516 108708516 C T exonic GUCY2F nonsynonymous SNV GUCY2F:NM_001522:exon3:c.G887A:p.R296Q 0.95 0.99 0.94 1. 0.83 0.97 0.8868 0.9769 0.9461 1 0.8379 0.8360 0.8736 0.9459 0.88 0.97 0.83 0.72 0.81 rs502209 COSM4156516 1(thyroid) . . . . . . . . . . . 0.69 0.043 T 0.0 0.026 B 0.0 0.013 B 0.036 0.246 N 1 0.090 P 0.345 0.112 N -0.84 0.743 T 0.39 0.035 N 0.022 0.005 -0.969 0.374 T 0.000 0.000 T . . . 2.682 0.383 20.7 0.947 0.248 0.015 0.050 N . . . 0.040 0.145 . . . 3.94 0.446 0.363 0.199 0.154 0.240 0.022 0.197 0.998 0.697 7.049 0.241 Periplasmic binding protein-like I|Receptor\x2c ligand binding region . . 0.8840 0.9775 0.9342 0.8171 0.9998 0.8390 0.8364 0.8573 0.9450 0.8900 0.9770 0.9383 0.8791 1 0.8331 0.8441 0.8658 hom 3514.29 104 X 108708516 . C T 3514.29 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6879;MQ=58.66;MQ0=0;QD=33.79;VQSLOD=7.6981;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3514,277,0 X 108708552 108708552 A G exonic GUCY2F nonsynonymous SNV GUCY2F:NM_001522:exon3:c.T851C:p.L284P 0.16 0.015 0.19 0.05 0.38 0.23 0.2969 0.0600 0.1591 0.0478 0.5124 0.3903 0.3544 0.2435 0.26 0.071 0.37 0.087 0.29 rs12008095 COSM5618047 1(breast);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.001 0.784 D 0.943 0.511 P 0.841 0.584 P 0.000 0.629 D 0.000 0.588 P 2.38 0.688 M -1.77 0.837 D -6.26 0.906 D 0.311 0.372 -1.168 0.006 T 0.000 0.000 T . . . 5.906 0.810 27.5 0.999 0.975 0.996 0.974 D . . . 0.995 0.338 . . . 3.94 0.446 8.738 0.912 1.199 0.960 1.000 0.715 1.000 0.888 10.183 0.420 Periplasmic binding protein-like I|Receptor\x2c ligand binding region . . 0.3007 0.0534 0.1663 0.3563 0.0495 0.5167 0.3857 0.3215 0.2477 0.2951 0.0607 0.2056 0.3867 0.0476 0.5055 0.3932 0.4053 hom 3971.26 125 X 108708552 . A G 3971.26 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6511;MQ=59.45;MQ0=0;QD=31.77;VQSLOD=8.8920;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3970,337,0 X 117700141 117700141 A G exonic DOCK11 synonymous SNV DOCK11:NM_144658:exon8:c.A867G:p.A289A 0.39 0.16 0.39 0.55 0.36 0.55 0.3942 0.1833 0.4373 0.5594 0.3482 0.3719 0.3852 0.5550 0.3 0.18 0.37 0.23 0.21 rs2286977 COSM1179702 3(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3947 0.1754 0.4331 0.3864 0.5489 0.3659 0.3689 0.3908 0.5389 0.3167 0.1776 0.4066 0.3743 0.5533 0.3547 0.3509 0.4014 hom 2058.03 66 X 117700141 . A G 2058.03 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.65;MQ0=0;QD=31.18;VQSLOD=8.9851;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2091,163,0 X 118281538 118281538 C A exonic KIAA1210 nonsynonymous SNV KIAA1210:NM_020721:exon2:c.G308T:p.G103V 0.93 0.76 0.98 1. 1. 1. 0.9792 0.7869 0.9898 1 1 0.9995 0.9823 0.9998 0.92 0.78 1. 0.67 . rs5910522 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N 2.47 0.148 T 0.7 0.022 N 0.081 0.074 -0.967 0.379 T 0.000 0.000 T . . . 0.753 0.166 9.172 0.319 0.018 0.001 0.008 N . . . 0.992 0.328 . . . 1.3 0.207 0.284 0.185 0.024 0.147 0.001 0.137 0.083 0.182 2.727 0.049 . . . 0.9828 0.7797 0.9894 1 1 1 0.9992 0.9911 0.9995 0.9418 0.7881 0.9904 1 1 1 0.9994 0.9877 hom 1098.03 39 X 118281538 . C A 1098.03 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.644;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.04;MQ0=0;MQRankSum=-0.311;QD=28.15;ReadPosRankSum=0.044;VQSLOD=8.1765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,38:39:90.28:1131,90,0 X 118587003 118587003 C T exonic SLC25A43 nonsynonymous SNV SLC25A43:NM_145305:exon5:c.C1001T:p.P334L 0.57 0.59 0.52 0.54 0.57 0.6 0.5745 0.6043 0.4904 0.5263 0.6178 0.5766 0.5974 0.6278 0.59 0.6 0.58 0.43 0.32 rs3810755 COSM4415259 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.361 P -1.61 0.004 N -1.01 0.762 T 1.37 0.009 N 0.103 0.107 -0.936 0.432 T 0.000 0.000 T . . . 1.790 0.276 14.92 0.848 0.150 0.010 0.037 N . . . 0.934 0.271 . . . 5.24 0.728 3.770 0.548 0.154 0.240 1.000 0.715 0.986 0.517 9.581 0.385 . . . 0.5726 0.5990 0.4952 0.6003 0.5214 0.6218 0.5756 0.5688 0.6336 0.5965 0.6032 0.5329 0.6464 0.5371 0.6350 0.5928 0.5775 hom 1793.46 56 X 118587003 . C T 1793.46 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.42;MQ0=0;QD=32.03;VQSLOD=9.5826;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,55:56:99:1826,144,0 X 118604436 118604436 T C exonic SLC25A5 synonymous SNV SLC25A5:NM_001152:exon3:c.T699C:p.T233T 0.81 0.99 0.76 0.68 0.75 0.81 0.7680 0.9441 0.7389 0.6414 0.7446 0.7498 0.7801 0.8251 0.83 0.96 0.76 0.66 0.69 rs12390 COSM1465208 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7634 0.9645 0.7356 0.7935 0.6358 0.7488 0.7478 0.7621 0.8263 0.6568 0.6825 0.6274 0.7895 0.4790 0.6133 0.6692 0.5942 hom 2301.65 77 X 118604436 . T C 2301.65 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7527;MQ=59.68;MQ0=0;QD=29.89;VQSLOD=7.8280;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2335,199,0 X 118678364 118678364 G A exonic CXorf56 synonymous SNV CXorf56:NM_001170570:exon3:c.C333T:p.G111G,CXorf56:NM_001170569:exon4:c.C228T:p.G76G,CXorf56:NM_022101:exon4:c.C375T:p.G125G 0.61 0.41 0.63 0.77 0.63 0.66 0.6373 0.4659 0.6933 0.7801 0.6129 0.6320 0.6519 0.6714 0.57 0.48 0.63 0.46 0.57 rs5910611 COSM4156555 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6416 0.4668 0.6849 0.6781 0.7851 0.6216 0.6249 0.6376 0.6712 0.5939 0.4741 0.6960 0.7062 0.7855 0.6270 0.6260 0.6026 hom 3389.64 118 X 118678364 . G A 3389.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.261;DP=118;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.5443;MQ=59.41;MQ0=0;MQRankSum=0.291;QD=28.73;ReadPosRankSum=0.506;VQSLOD=6.7887;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,115:118:99:3353,244,0 X 119387833 119387833 - TGA exonic ZBTB33 nonframeshift insertion ZBTB33:NM_006777:exon2:c.563_564insTGA:p.D194_V195insD,ZBTB33:NM_001184742:exon3:c.563_564insTGA:p.D194_V195insD 0.51 0.27 0.54 0.59 0.7 0.55 0.6206 0.3062 0.5070 0.6249 0.6783 0.7057 0.6097 0.5572 0.57 0.32 0.71 . . rs781901311 COSM1465246 13(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6076 0.2954 0.4815 0.7287 0.6208 0.6574 0.6943 0.6137 0.5304 0.5718 0.2862 0.5059 0.6778 0.6079 0.6597 0.7058 0.6283 hom 2188.88 48 X 119387833 . C CTGA 2188.88 Mask AC=2;AF=1.00;AN=2;DP=48;FS=0.000;HRun=0;HaplotypeScore=145.3888;MQ=60.37;MQ0=0;QD=45.60;set=variant2 GT:AD:DP:GQ:PL 1/1:9,35:48:99:2231,120,0 X 122537277 122537277 T C exonic GRIA3 synonymous SNV GRIA3:NM_000828:exon9:c.T1200C:p.N400N,GRIA3:NM_007325:exon9:c.T1200C:p.N400N 0.53 0.4 0.57 0.69 0.61 0.42 0.5807 0.4344 0.5478 0.6161 0.7371 0.6187 0.6509 0.4566 0.55 0.43 0.61 0.38 0.62 rs502434 COSM1465321;COSM1465322;COSM5459850 1(large_intestine) Likely benign not_specified RCV000117156.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5880 0.4347 0.5615 0.6398 0.6072 0.7344 0.6125 0.6096 0.4581 0.5782 0.4384 0.5452 0.6851 0.6115 0.7266 0.6131 0.6255 hom 5594 183 X 122537277 . T C 5594 Mask AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=58.60;MQ0=0;QD=30.57;VQSLOD=9.0121;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:183:99:5593,445,0 X 123526031 123526031 T C exonic TENM1 synonymous SNV TENM1:NM_014253:exon27:c.A5538G:p.S1846S,TENM1:NM_001163278:exon28:c.A5559G:p.S1853S,TENM1:NM_001163279:exon28:c.A5556G:p.S1852S 0.17 0.13 0.21 0.34 0.12 0.092 0.1367 0.1363 0.2472 0.3228 0.0827 0.1072 0.1234 0.0789 0.12 0.14 0.11 0.13 0.082 rs2076165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1400 0.1354 0.2406 0.0868 0.3165 0.0829 0.1113 0.1226 0.0779 0.1276 0.1352 0.2029 0.0703 0.3106 0.0884 0.1132 0.1168 hom 1145.36 36 X 123526031 . T C 1145.36 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.82;VQSLOD=13.9433;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:96.29:1178,96,0 X 129147079 129147079 T C exonic BCORL1 nonsynonymous SNV BCORL1:NM_001184772:exon3:c.T331C:p.F111L,BCORL1:NM_021946:exon3:c.T331C:p.F111L 1. 1. 1. 1. 1. 1. 1.0000 1 1 0.9998 1 1 1 1 . . . 0.74 0.72 rs4830173 COSM4591817;COSM4591818 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 0.9998 1 1 1 1 1 1 1 1 1 1 1 1 hom 1056.55 32 X 129147079 . T C 1056.55 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.02;VQSLOD=12.8044;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:87.27:1090,87,0 X 129150143 129150143 T C exonic BCORL1 nonsynonymous SNV BCORL1:NM_001184772:exon3:c.T3395C:p.L1132P,BCORL1:NM_021946:exon3:c.T3395C:p.L1132P . . . . . . 0.0190 0.0110 0.0576 0.0447 0.1050 0.0129 0.0153 0.0045 . . . . 0.016 rs200529481 COSM4596341;COSM4596342 11(upper_aerodigestive_tract) . . . . . . . . . . . 0.119 0.291 T 0.0 0.329 B 0.0 0.229 B . . . 1 0.090 N 0 0.065 N 1.06 0.398 T -0.2 0.102 N 0.131 0.572 -1.051 0.141 T 0.035 0.153 T . . . -0.840 0.038 0.035 0.727 0.097 0.066 0.125 N . . . 0.005 0.107 . . . -2.72 0.056 -0.300 0.082 -1.484 0.011 0.013 0.187 0.015 0.124 2.583 0.045 . . . 0.0089 0.0087 0.0121 0.0064 0.0149 0.0131 0.0083 0.0049 0.0023 . . . . . . . . het 132.15 17 X 129150143 . T C 132.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DP=17;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=0.660;QD=7.77;ReadPosRankSum=1.093;VQSLOD=4.0111;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,11:17:99:162,0,135 X 129283520 129283520 A G exonic AIFM1 synonymous SNV AIFM1:NM_001130847:exon3:c.T273C:p.D91D,AIFM1:NM_004208:exon3:c.T273C:p.D91D,AIFM1:NM_145812:exon3:c.T261C:p.D87D 0.49 0.77 0.48 0.19 0.42 0.52 0.4329 0.7132 0.4312 0.1822 0.4442 0.4097 0.4076 0.4697 0.51 0.71 0.4 0.43 0.38 rs1139851 COSM1465605;COSM1465604 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign Combined_oxidative_phosphorylation_deficiency RCV000373191.1 MedGen:Orphanet CN201731:ORPHA2443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4321 0.7189 0.4474 0.4902 0.1799 0.4530 0.4057 0.4248 0.4690 0.4864 0.7096 0.4158 0.5246 0.1918 0.4586 0.4044 0.4294 hom 1998.19 75 X 129283520 . A G 1998.19 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4880;MQ=57.84;MQ0=0;QD=26.64;VQSLOD=6.1558;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:75:99:2031,156,0 X 129349295 129349295 T G exonic ZNF280C synonymous SNV ZNF280C:NM_017666:exon15:c.A1851C:p.G617G 0.52 0.75 0.47 0.36 0.41 0.53 0.4453 0.6878 0.4348 0.3390 0.4190 0.4095 0.4176 0.5072 0.5 0.68 0.4 0.47 0.21 rs209238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4424 0.6912 0.4519 0.4810 0.3406 0.4275 0.4061 0.4347 0.4967 0.4807 0.6832 0.4140 0.5109 0.3356 0.4352 0.3993 0.4370 hom 1558.18 47 X 129349295 . T G 1558.18 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=33.15;VQSLOD=9.2359;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1591,126,0 X 130410965 130410965 A G exonic IGSF1 synonymous SNV IGSF1:NM_001170962:exon13:c.T2529C:p.Y843Y,IGSF1:NM_001170961:exon14:c.T2571C:p.Y857Y,IGSF1:NM_001555:exon14:c.T2556C:p.Y852Y 0.24 0.43 0.32 0.0026 0.33 0.093 0.2999 0.4316 0.2839 0.0015 0.3545 0.3482 0.3101 0.1447 0.38 0.44 0.35 0.22 0.39 rs4830219 COSM1465651 1(thyroid) Benign not_specified RCV000242858.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2978 0.4307 0.2993 0.3584 0.0015 0.3459 0.3440 0.3290 0.1465 0.3490 0.4251 0.3231 0.35 0 0.3376 0.3461 0.3462 hom 7466.18 250 X 130410965 . A G 7466.18 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7719;MQ=59.32;MQ0=0;QD=29.86;VQSLOD=8.7726;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7464,635,0 X 130415818 130415818 T C exonic IGSF1 synonymous SNV IGSF1:NM_001170962:exon7:c.A1320G:p.E440E,IGSF1:NM_001170961:exon8:c.A1347G:p.E449E,IGSF1:NM_001555:exon8:c.A1347G:p.E449E 0.5 0.56 0.44 0.66 0.46 0.35 0.4678 0.5386 0.4113 0.6911 0.5103 0.4525 0.4490 0.3692 0.48 0.54 0.45 0.36 0.33 rs1128617 . . Benign not_specified RCV000251275.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4664 0.5393 0.4307 0.4679 0.6796 0.5065 0.4483 0.4533 0.3692 0.4972 0.5269 0.4246 0.4628 0.6723 0.5025 0.4673 0.4965 hom 1536.62 45 X 130415818 . T C 1536.62 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.49;MQ0=0;QD=34.15;VQSLOD=10.0441;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1570,126,0 X 130416958 130416958 C T exonic IGSF1 synonymous SNV IGSF1:NM_001170962:exon5:c.G921A:p.V307V,IGSF1:NM_001170961:exon6:c.G948A:p.V316V,IGSF1:NM_001555:exon6:c.G948A:p.V316V 0.91 0.67 0.97 1. 1. 1. 0.9683 0.6922 0.9878 1 1 0.9994 0.9809 0.9999 0.89 0.69 1. 0.65 1. rs5932877 . . Benign not_specified RCV000250807.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9752 0.6863 0.9843 0.9999 1 1 0.9991 0.9868 0.9996 0.9151 0.6901 0.9792 1 1 1 0.9993 0.9890 hom 2632.31 95 X 130416958 . C T 2632.31 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=27.71;VQSLOD=7.7302;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2665,202,0 X 130420006 130420006 T C exonic IGSF1 synonymous SNV IGSF1:NM_001170962:exon3:c.A87G:p.P29P,IGSF1:NM_001170961:exon4:c.A114G:p.P38P,IGSF1:NM_001170963:exon4:c.A114G:p.P38P,IGSF1:NM_001555:exon4:c.A114G:p.P38P,IGSF1:NM_205833:exon4:c.A114G:p.P38P 0.94 0.81 0.98 1. 1. 1. 0.9814 0.8229 0.9925 0.9998 1 0.9997 0.9919 0.9998 0.94 0.83 1. 0.69 0.92 rs5930458 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9853 0.8165 0.9914 1 0.9999 1 0.9996 0.9927 0.9997 0.9509 0.8191 0.9901 1 1 1 0.9997 0.9930 hom 2827.55 98 X 130420006 . T C 2827.55 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.85;VQSLOD=13.9706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:2861,241,0 X 130420415 130420415 T C exonic IGSF1 synonymous SNV IGSF1:NM_001170961:exon3:c.A93G:p.S31S,IGSF1:NM_001170963:exon3:c.A93G:p.S31S,IGSF1:NM_001555:exon3:c.A93G:p.S31S,IGSF1:NM_205833:exon3:c.A93G:p.S31S 0.97 0.9 0.99 1. 1. 1. 0.9921 0.9214 0.9981 1 1 0.9999 0.9984 0.9998 0.97 0.92 1. 0.72 1. rs4495600 COSM4156586;COSM4156585 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9940 0.9197 0.9973 1 1 1 0.9999 0.9970 0.9999 0.9765 0.9129 1 1 1 1 1 0.9972 hom 2764.76 92 X 130420415 . T C 2764.76 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=59.75;MQ0=0;QD=30.05;VQSLOD=8.8954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2798,226,0 X 132437337 132437337 G A exonic GPC4 nonsynonymous SNV GPC4:NM_001448:exon8:c.C1325T:p.A442V 0.46 0.67 0.24 0.46 0.28 0.51 0.3490 0.5985 0.1645 0.4439 0.2590 0.3010 0.3280 0.5217 0.4 0.6 0.3 0.34 0.36 rs1048369 COSM3736489 1(skin) . . . . . . . . . . . 0.099 0.306 T 0.902 0.478 P 0.411 0.430 B 0.000 0.629 N 0.000 0.588 P 2.01 0.549 M 0.67 0.522 T -2.99 0.621 D 0.022 0.074 -0.913 0.465 T 0.000 0.000 T . . . 4.423 0.592 24.2 0.998 0.906 0.984 0.820 D . . . 1.000 0.747 . . . 4.72 0.591 6.923 0.755 0.076 0.183 1.000 0.715 0.991 0.552 11.904 0.518 . . . 0.3289 0.5996 0.1787 0.3681 0.4438 0.2457 0.2925 0.3128 0.5024 0.3711 0.5875 0.2081 0.3297 0.4440 0.2575 0.2857 0.3423 hom 2102.55 69 X 132437337 . G A 2102.55 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=59.33;MQ0=0;QD=30.47;VQSLOD=8.3282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2136,181,0 X 132438872 132438872 C A exonic GPC4 nonsynonymous SNV GPC4:NM_001448:exon7:c.G1173T:p.E391D 0.46 0.67 0.24 0.46 0.29 0.51 0.3483 0.5986 0.1656 0.4451 0.2596 0.3012 0.3286 0.5066 0.4 0.6 0.3 0.34 0.38 rs1129980 COSM3736490 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . 0.378 0.112 T 0.104 0.244 B 0.12 0.306 B 0.000 0.843 D 0.007 0.418 P 1.965 0.534 M 0.66 0.524 T -1.2 0.305 N 0.111 0.217 -0.927 0.446 T 0.000 0.000 T . . . 4.805 0.645 24.8 0.988 0.467 0.906 0.515 D . . . 0.999 0.390 . . . 3.36 0.374 1.022 0.295 0.071 0.179 1.000 0.715 1.000 0.888 7.203 0.249 . . . 0.3304 0.6002 0.1791 0.3695 0.4457 0.2468 0.2935 0.3129 0.5047 0.3710 0.5881 0.2056 0.3125 0.4478 0.2562 0.2846 0.3441 hom 2307.28 78 X 132438872 . C A 2307.28 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8501;MQ=57.56;MQ0=0;QD=29.58;VQSLOD=6.2017;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2340,184,0 X 134185997 134185997 T A exonic RTL8A nonsynonymous SNV RTL8A:NM_001078172:exon1:c.A142T:p.S48C,RTL8A:NM_001134321:exon1:c.A142T:p.S48C 0.72 0.92 0.63 0.6 0.76 0.6 0.7091 0.8925 0.5959 0.5780 0.6704 0.7405 0.7448 0.6206 0.8 0.89 0.74 0.59 0.68 rs2498776 COSM150824 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.06 0.373 T 0.444 0.341 B 0.046 0.233 B 0.197 0.167 U 1.000 0.189 P 0.805 0.203 L 1.48 0.317 T -1.18 0.301 N 0.105 0.140 -1.070 0.095 T 0.000 0.000 T . . . 3.024 0.424 22.3 0.930 0.219 0.381 0.257 N . . . 1.000 0.747 . . . 2.38 0.283 0.428 0.210 -0.500 0.052 0.997 0.399 0.760 0.324 4.711 0.122 Domain of unknown function DUF4939 . . 0.7012 0.8943 0.5982 0.7696 0.5736 0.6734 0.7438 0.7330 0.6196 0.7631 0.8956 0.6726 0.7676 0.5824 0.6525 0.7447 0.6864 hom 4242.66 140 X 134185997 . T A 4242.66 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7234;MQ=51.33;MQ0=2;QD=30.30;VQSLOD=3.3635;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4242,349,0 X 134421168 134421168 C T exonic ZNF75D synonymous SNV ZNF75D:NM_001185063:exon4:c.G1149A:p.T383T,ZNF75D:NM_007131:exon7:c.G1434A:p.T478T 0.15 0.022 0.23 0.048 0.42 0.077 0.2934 0.0591 0.2805 0.0405 0.3739 0.4049 0.3006 0.1036 0.3 0.07 0.42 0.054 0.31 rs1129093 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3012 0.0535 0.2841 0.3412 0.0415 0.3731 0.4139 0.3239 0.1028 0.2870 0.0628 0.3534 0.3456 0.0424 0.3548 0.4131 0.3333 hom 2582.29 84 X 134421168 . C T 2582.29 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.89;MQ0=0;QD=30.74;VQSLOD=9.2748;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2615,205,0 X 135310785 135310785 T C exonic MAP7D3 nonsynonymous SNV MAP7D3:NM_001173517:exon10:c.A1778G:p.Q593R,MAP7D3:NM_001173516:exon11:c.A1829G:p.Q610R,MAP7D3:NM_024597:exon11:c.A1883G:p.Q628R 0.49 0.28 0.46 0.72 0.54 0.51 0.5348 0.2975 0.5600 0.7100 0.6335 0.5463 0.5024 0.4868 0.46 0.3 0.54 0.38 0.52 rs2273221 COSM5831224;COSM1132401 1(prostate);1(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . 0.399 0.175 T 0.001 0.067 B 0.002 0.080 B . . . 1 0.090 P 0.86 0.214 L 1.97 0.221 T -0.89 0.240 N 0.037 0.196 -0.931 0.440 T 0.000 0.000 T . . . -2.032 0.008 0.001 0.505 0.043 0.057 0.115 N . . . 1.000 0.747 . . . -5.9 0.021 -0.407 0.072 -3.230 0.001 0.000 0.063 0.003 0.074 6.02 0.187 . . . 0.5334 0.2886 0.5439 0.4900 0.7059 0.6324 0.5411 0.5035 0.4667 0.5123 0.2804 0.5355 0.5027 0.7104 0.6373 0.5856 0.5818 hom 908.77 35 X 135310785 . T C 908.77 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;QD=25.96;VQSLOD=7.3119;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:69.22:942,69,0 X 135313034 135313034 T G exonic MAP7D3 nonsynonymous SNV MAP7D3:NM_001173517:exon8:c.A1400C:p.E467A,MAP7D3:NM_001173516:exon9:c.A1451C:p.E484A,MAP7D3:NM_024597:exon9:c.A1505C:p.E502A 0.55 0.48 0.49 0.72 0.54 0.51 0.5554 0.4875 0.5733 0.7126 0.6337 0.5478 0.5185 0.4918 0.54 0.52 0.55 0.46 0.61 rs1055497 COSM5831225;COSM3759365 1(pancreas);1(oesophagus);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.858 0.089 N 1 0.090 P -0.55 0.024 N 4.28 0.043 T 1.73 0.012 N 0.027 0.289 -0.948 0.414 T 0.000 0.000 T . . . -2.002 0.008 0.001 0.065 0.000 0.000 0.003 N . . . 0.931 0.270 . . . 1.03 0.191 1.153 0.311 -0.766 0.034 0.002 0.151 0.000 0.016 3.649 0.077 . . . 0.5581 0.4872 0.5690 0.4965 0.7199 0.6339 0.5476 0.5205 0.4889 0.5680 0.4772 0.5605 0.4835 0.708 0.6375 0.5879 0.5963 hom 2229.45 69 X 135313034 . T G 2229.45 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;QD=32.31;VQSLOD=9.5969;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2262,169,0 X 135474420 135474420 C A exonic ADGRG4 synonymous SNV ADGRG4:NM_153834:exon17:c.C7941A:p.T2647T 0.74 0.69 0.78 0.93 0.63 0.69 0.6599 0.6832 0.7999 0.9089 0.5720 0.5972 0.6523 0.6856 0.64 0.69 0.61 0.45 0.59 rs1329546 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6535 0.6803 0.7869 0.5720 0.9083 0.5562 0.5907 0.6649 0.6687 0.6212 0.6885 0.7848 0.6044 0.9270 0.5480 0.5636 0.6064 hom 1525.10 46 X 135474420 . C A 1525.10 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.99;MQ0=0;QD=33.15;VQSLOD=8.6857;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1558,126,0 X 135474445 135474447 GAT - exonic ADGRG4 nonframeshift deletion ADGRG4:NM_153834:exon17:c.7966_7968del:p.D2657del 0.74 0.69 0.78 0.93 0.63 0.69 0.6593 0.6830 0.7991 0.9078 0.5718 0.5965 0.6513 0.6852 0.64 0.68 0.61 0.45 . rs563570937 COSM5713400 5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6532 0.6788 0.7867 0.5748 0.9074 0.5568 0.5901 0.6661 0.6706 0.6176 0.6840 0.7850 0.6080 0.9279 0.5469 0.5596 0.6031 hom 3032.45 67 X 135474444 . AGAT A 3032.45 Mask AC=2;AF=1.00;AN=2;DP=67;FS=0.000;HRun=0;HaplotypeScore=399.3767;MQ=53.51;MQ0=0;QD=45.26;set=variant2 GT:AD:DP:GQ:PL 1/1:4,63:67:99:3074,190,0 X 135480126 135480126 T C exonic ADGRG4 synonymous SNV ADGRG4:NM_153834:exon20:c.T8271C:p.F2757F 0.77 0.79 0.79 0.93 0.63 0.69 0.6719 0.7796 0.8078 0.9086 0.5732 0.5990 0.6683 0.6901 0.67 0.78 0.61 0.5 0.61 rs5974595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6730 0.7837 0.8024 0.5834 0.9123 0.5608 0.5999 0.6838 0.6954 0.6475 0.7780 0.7993 0.6141 0.9284 0.5470 0.5650 0.6229 hom 2235.78 70 X 135480126 . T C 2235.78 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=31.94;VQSLOD=9.1008;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2269,175,0 X 135496398 135496398 G A exonic ADGRG4 synonymous SNV ADGRG4:NM_153834:exon25:c.G9117A:p.T3039T 0.77 0.79 0.79 0.93 0.63 0.69 0.6696 0.7713 0.8062 0.9068 0.5712 0.5974 0.6588 0.6894 0.67 0.77 0.61 0.5 0.58 rs5930942 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6692 0.7747 0.7995 0.5817 0.9095 0.5596 0.5976 0.6796 0.6897 0.6451 0.7676 0.8003 0.6066 0.9293 0.5497 0.5651 0.6217 hom 3524.30 118 X 135496398 . G A 3524.30 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.68;MQ0=0;QD=29.87;VQSLOD=9.0913;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:118:99:3524,277,0 X 135960146 135960146 - AA exonic RBMX frameshift insertion RBMX:NM_002139:exon4:c.315_316insTT:p.P106Ffs*31 . . . . . . 0.2316 0.3000 0.3240 0.1919 0.1837 0.2293 0.2026 0.1497 . . . . . rs755459969 COSM327346 9(breast);2(haematopoietic_and_lymphoid_tissue);2(pancreas);1(peritoneum);1(liver);1(skin);4(thyroid);1(upper_aerodigestive_tract);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1865 0.2432 0.2914 0.2121 0.0735 0.1006 0.1929 0.2011 0.1240 0.0042 0 0.004 0.0573 0 0.0004 0.0068 0.0079 het 595.40 59 X 135960146 . G GAA 595.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.020;DP=59;FS=4.616;HRun=1;HaplotypeScore=203.7148;MQ=49.12;MQ0=3;MQRankSum=-4.196;QD=9.16;ReadPosRankSum=1.292;set=variant2 GT:AD:DP:GQ:PL 0/1:49,16:59:99:634,0,1854 X 136113464 136113464 C A exonic GPR101 nonsynonymous SNV GPR101:NM_054021:exon1:c.G370T:p.V124L 0.23 0.015 0.19 0.35 0.48 0.17 0.3799 0.0646 0.1359 0.3596 0.5242 0.5058 0.3892 0.2026 0.35 0.077 0.51 0.12 0.36 rs1190736 COSM4156606 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.113 0.287 T 0.898 0.475 P 0.674 0.514 P 0.009 0.307 N 0.002 0.447 P 1.79 0.469 L 1.71 0.267 T -1.85 0.433 N 0.391 0.451 -0.875 0.501 T 0.000 0.000 T . . . 3.884 0.524 23.5 0.989 0.487 0.876 0.469 D . . . 1.000 0.747 . . . 4.14 0.477 1.700 0.372 0.935 0.490 0.316 0.252 0.304 0.238 12.334 0.542 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.3669 0.0562 0.1518 0.3868 0.3533 0.5059 0.5049 0.3843 0.1783 0.3703 0.0652 0.1926 0.4365 0.3739 0.4989 0.5161 0.4407 hom 909.36 28 X 136113464 . C A 909.36 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.371;DP=28;Dels=0.00;FS=3.680;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.609;QD=32.48;ReadPosRankSum=1.609;VQSLOD=3.7974;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,27:28:44.27:942,44,0 X 138897130 138897130 A C exonic ATP11C nonsynonymous SNV ATP11C:NM_001010986:exon5:c.T342G:p.C114W,ATP11C:NM_173694:exon5:c.T342G:p.C114W 0.99 1. 0.99 1. 0.97 1. 0.9863 0.9971 0.9880 0.9980 0.9862 0.9805 0.9714 0.9964 0.98 1. 0.98 0.74 0.55 rs2491014 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.077 0.367 P -3.665 0.000 N -1.0 0.760 T 9.54 0.000 N 0.041 0.406 -0.945 0.419 T 0.000 0.000 T . . . 1.757 0.272 14.73 0.456 0.035 0.033 0.082 N . . . 1.000 0.747 . . . 4.29 0.502 5.559 0.668 0.003 0.136 1.000 0.715 0.998 0.697 10.717 0.450 P-type ATPase\x2c A domain . . 0.9858 0.9976 0.9897 0.9715 0.9979 0.9853 0.9809 0.9803 0.9961 0.9893 0.9971 0.9883 0.9842 0.9981 0.9876 0.9849 0.9847 hom 1213.11 47 X 138897130 . A C 1213.11 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3204;MQ=58.71;MQ0=0;QD=25.81;VQSLOD=6.7580;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:90.29:1246,90,0 X 140983064 140983064 G A exonic MAGEC3 nonsynonymous SNV MAGEC3:NM_138702:exon5:c.G919A:p.A307T 0.71 0.76 0.73 0.49 0.95 0.62 0.8454 0.8012 0.7347 0.4848 0.9091 0.9468 0.8624 0.7017 0.9 0.81 0.95 0.24 0.95 rs176024 COSM4156625;COSM4156624 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.21 0.196 T 0.001 0.067 B 0.0 0.013 B . . . 1 0.090 P -0.505 0.026 N 4.02 0.032 T 0.16 0.052 N 0.062 0.048 -1.058 0.124 T 0.000 0.000 T . . . 0.945 0.184 10.34 0.307 0.017 0.001 0.006 N . . . 0.000 0.012 . . . 0.007 0.133 -1.894 0.017 -0.916 0.026 0.000 0.063 0.000 0.016 5.668 0.169 . . . 0.8380 0.8032 0.7356 0.9497 0.4737 0.9118 0.9492 0.8767 0.6697 0.8706 0.8067 0.7443 0.9399 0.4662 0.9143 0.9373 0.8953 hom 4023.13 133 X 140983064 . G A 4023.13 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6828;MQ=58.69;MQ0=0;QD=30.25;VQSLOD=8.8111;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:4023,316,0 X 140983127 140983127 G A exonic MAGEC3 nonsynonymous SNV MAGEC3:NM_138702:exon5:c.G982A:p.A328T 0.62 0.43 0.69 0.49 0.92 0.64 0.7950 0.4968 0.7095 0.4740 0.9039 0.9245 0.8196 0.6699 0.78 0.51 0.93 0.36 0.87 rs176026 COSM1466088;COSM4002264 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.019 0.501 D 0.98 0.574 D 0.811 0.568 P . . . 1 0.090 P 1.885 0.502 L 3.78 0.039 T -0.5 0.158 N 0.099 0.101 -0.972 0.367 T 0.000 0.000 T . . . 2.885 0.407 21.8 0.910 0.197 0.008 0.031 N . . . 0.000 0.012 . . . 0.684 0.171 0.198 0.169 0.323 0.271 0.000 0.063 0.001 0.043 . . . . . 0.7987 0.4943 0.7112 0.9017 0.4643 0.9049 0.9260 0.8407 0.6671 0.7762 0.5052 0.7178 0.8913 0.4501 0.9066 0.9176 0.8659 hom 5336.01 173 X 140983127 . G A 5336.01 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.712;DP=173;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5165;MQ=58.99;MQ0=0;MQRankSum=0.987;QD=30.84;ReadPosRankSum=0.081;VQSLOD=8.7152;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,171:173:99:5335,433,0 X 140994280 140994280 A G exonic MAGEC1 nonsynonymous SNV MAGEC1:NM_005462:exon4:c.A1090G:p.T364A 0.27 0.065 0.33 0.47 0.23 0.33 0.2552 0.0758 0.3256 0.4775 0.2338 0.2324 0.2344 0.3128 0.17 0.077 0.22 0.11 0.22 rs4824884 . . . . . . . . . . . . . 0.0 0.912 D 0.414 0.334 B 0.039 0.223 B . . . 1 0.090 P 0 0.065 N 3.88 0.036 T -0.48 0.154 N 0.013 0.002 -0.891 0.489 T 0.000 0.000 T . . . 0.721 0.163 8.961 0.219 0.009 0.003 0.015 N . . . 0.000 0.029 . . . . . -2.850 0.008 -3.719 0.001 0.000 0.063 0.000 0.016 2.877 0.053 . . . 0.2573 0.0591 0.3335 0.2186 0.4746 0.2415 0.2243 0.2526 0.3067 0.1846 0.0674 0.3041 0.2109 0.4577 0.2378 0.2024 0.2164 hom 2977.86 105 X 140994280 . A G 2977.86 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.803;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9366;MQ=48.97;MQ0=6;MQRankSum=2.325;QD=28.36;ReadPosRankSum=-0.510;VQSLOD=2.8483;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:2,103:105:99:3011,224,0 X 142795438 142795438 G T exonic SPANXN2 synonymous SNV SPANXN2:NM_001009615:exon2:c.C240A:p.P80P 0.24 0.44 0.16 0.22 0.089 0.18 0.1690 0.4284 0.1688 0.2042 0.0938 0.1269 0.1485 0.1626 0.23 0.42 0.12 0.23 0.09 rs5908761 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1612 0.4287 0.1718 0.2343 0.1998 0.0984 0.1181 0.1529 0.1628 0.2081 0.4289 0.2039 0.2 0.2010 0.0938 0.1187 0.1352 hom 8152.42 244 X 142795438 . G T 8152.42 Mask AC=2;AF=1.00;AN=2;DP=244;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4429;MQ=53.02;MQ0=0;QD=33.41;VQSLOD=3.7633;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,244:244:99:8151,656,0 X 142967468 142967468 T G exonic UBE2NL stopgain UBE2NL:NM_001012989:exon1:c.T266G:p.L89X 0.62 0.63 0.58 0.66 0.64 0.55 0.6364 0.6451 0.5368 0.6653 0.6983 0.6624 0.5854 0.5538 0.67 0.65 0.67 0.4 0.63 rs237520 COSM5000704 2(haematopoietic_and_lymphoid_tissue);2(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6303 0.6490 0.5455 0.5780 0.6571 0.6892 0.6648 0.6289 0.5439 0.6585 0.6553 0.5710 0.6270 0.6703 0.6805 0.6605 0.6403 hom 2944.44 88 X 142967468 . T G 2944.44 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=59.42;MQ0=0;QD=33.46;VQSLOD=9.4304;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2977,235,0 X 144905816 144905816 T C exonic SLITRK2 synonymous SNV SLITRK2:NM_001144009:exon2:c.T1873C:p.L625L,SLITRK2:NM_001144006:exon3:c.T1873C:p.L625L,SLITRK2:NM_001144008:exon3:c.T1873C:p.L625L,SLITRK2:NM_001144010:exon3:c.T1873C:p.L625L,SLITRK2:NM_001144003:exon5:c.T1873C:p.L625L,SLITRK2:NM_001144004:exon5:c.T1873C:p.L625L,SLITRK2:NM_001144005:exon5:c.T1873C:p.L625L,SLITRK2:NM_032539:exon5:c.T1873C:p.L625L 0.0013 . . . 0.0052 0.0014 0.0037 0.0008 0.0004 0 0.0009 0.0057 0.0016 0.0032 0.0052 0.0008 0.0077 0.011 . rs138169257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0035 0.0010 0.0006 0 0 0.0015 0.0063 0.0030 0.0030 0.0037 0.0007 0.0016 0 0 0.0011 0.0067 0.0014 hom 3597.44 106 X 144905816 . T C 3597.44 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.07;MQ0=0;QD=33.94;VQSLOD=8.1584;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3597,280,0 X 147088249 147088249 C T exonic FMR1NB nonsynonymous SNV FMR1NB:NM_152578:exon3:c.C425T:p.A142V 0.42 0.37 0.43 0.68 0.37 0.28 0.3895 0.3577 0.4377 0.6688 0.3591 0.3701 0.3839 0.2948 0.37 0.36 0.37 0.33 0.44 rs764631 COSM5654434 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.250 0.036 N 1 0.090 P -0.895 0.014 N 0.98 0.421 T 3.17 0.001 N 0.016 0.003 -0.953 0.405 T 0.000 0.000 T . . . -1.442 0.018 0.003 0.401 0.028 0.000 0.002 N . . . 0.000 0.029 . . . 1.43 0.215 0.740 0.257 -1.681 0.008 0.001 0.137 0.000 0.016 4.468 0.110 . . . 0.3949 0.3628 0.4312 0.3271 0.6678 0.3738 0.3757 0.3923 0.3036 0.3824 0.3629 0.4069 0.3957 0.6576 0.3637 0.3721 0.3520 hom 3607.24 124 X 147088249 . C T 3607.24 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.36;MQ0=0;QD=29.09;VQSLOD=8.0350;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3607,289,0 X 148582549 148582549 G A exonic IDS synonymous SNV IDS:NM_000202:exon4:c.C438T:p.T146T,IDS:NM_001166550:exon4:c.C168T:p.T56T,IDS:NM_006123:exon4:c.C438T:p.T146T 0.19 0.26 0.18 0.0026 0.42 0.068 0.2783 0.2571 0.1426 0.0009 0.3062 0.3838 0.2726 0.0915 0.34 0.25 0.39 0.076 0.39 rs1141608 COSM3759389;COSM3759388;COSM3759390 1(large_intestine) Benign|Benign not_specified|Mucopolysaccharidosis\x2c_MPS-II RCV000078365.5|RCV000206047.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0026705:309900:70737009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2750 0.2567 0.1558 0.3370 0.0010 0.3159 0.3904 0.3043 0.0901 0.3049 0.2517 0.1612 0.3483 0.0020 0.3073 0.3713 0.3120 hom 2059.10 66 X 148582549 . G A 2059.10 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.23;MQ0=0;QD=31.20;VQSLOD=8.7713;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2092,163,0 X 148798223 148798223 T C exonic MAGEA11 synonymous SNV MAGEA11:NM_001011544:exon5:c.T990C:p.L330L,MAGEA11:NM_005366:exon5:c.T1077C:p.L359L 0.51 0.86 0.65 0.23 0.52 0.19 0.4790 0.8169 0.5896 0.2936 0.4775 0.4796 0.4674 0.2139 0.6 0.81 0.48 0.32 0.48 rs2233050 COSM4002271 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4755 0.8224 0.5917 0.3937 0.2931 0.4855 0.4811 0.4899 0.2117 0.5578 0.8045 0.5559 0.3407 0.291 0.4700 0.4761 0.4944 hom 7004.30 212 X 148798223 . T C 7004.30 Mask AC=2;AF=1.00;AN=2;DP=212;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2776;MQ=58.60;MQ0=0;QD=33.04;VQSLOD=7.7917;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,211:212:99:7003,566,0 X 149013727 149013727 A G exonic MAGEA8 synonymous SNV MAGEA8:NM_001166401:exon3:c.A681G:p.A227A,MAGEA8:NM_005364:exon3:c.A681G:p.A227A,MAGEA8:NM_001166400:exon4:c.A681G:p.A227A 0.89 0.97 0.9 0.89 0.8 0.84 0.8401 0.9602 0.9159 0.9106 0.7694 0.7998 0.8145 0.8468 0.85 0.96 0.79 0.66 0.75 rs5983916 COSM4154874 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8374 0.9618 0.9116 0.7977 0.9134 0.7768 0.7988 0.8287 0.8321 0.8496 0.9600 0.8723 0.7889 0.9396 0.7741 0.8 0.8192 hom 3497.44 115 X 149013727 . A G 3497.44 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7834;MQ=58.89;MQ0=0;QD=30.41;VQSLOD=8.1262;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3497,298,0 X 149931106 149931106 C T exonic MTMR1 synonymous SNV MTMR1:NM_003828:exon15:c.C1902T:p.G634G,MTMR1:NM_001306144:exon16:c.C1926T:p.G642G 0.83 0.63 0.92 0.99 0.88 0.8 0.8643 0.6731 0.9432 0.9956 0.8886 0.8714 0.8571 0.8215 0.81 0.68 0.88 0.61 0.83 rs16995747 COSM1466306 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8694 0.6680 0.9356 0.7779 0.9956 0.8848 0.8757 0.8703 0.8167 0.8261 0.6661 0.9067 0.7717 0.9990 0.8789 0.8787 0.8634 hom 2823.80 93 X 149931106 . C T 2823.80 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6386;MQ=59.25;MQ0=0;QD=30.36;VQSLOD=8.2035;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:93:99:2857,244,0 X 150349871 150349871 A G exonic GPR50 nonsynonymous SNV GPR50:NM_004224:exon2:c.A1816G:p.I606V 0.27 0.24 0.26 0.017 0.58 0.28 0.4595 0.2761 0.2685 0.0094 0.6080 0.5893 0.4958 0.3737 0.47 0.27 0.58 0.23 0.56 rs13440581 COSM3759396 1(skin);1(lung);1(large_intestine) . . . . . . . . . . . 0.217 0.191 T 0.01 0.144 B 0.002 0.063 B 0.041 0.240 N 1 0.090 P 0.975 0.246 L -0.47 0.701 T -0.07 0.080 N 0.074 0.064 -0.941 0.424 T 0.000 0.000 T . . . -0.215 0.075 1.023 0.605 0.063 0.032 0.081 N . . . 0.487 0.208 . . . 2.13 0.263 -1.159 0.032 1.199 0.960 0.000 0.063 0.221 0.222 4.235 0.100 . . . 0.4501 0.2661 0.2891 0.5929 0.0102 0.6044 0.5867 0.4908 0.3554 0.4611 0.2775 0.2950 0.6310 0.0096 0.5967 0.5779 0.5134 hom 5821.43 186 X 150349871 . A G 5821.43 Mask AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6594;MQ=59.52;MQ0=0;QD=31.30;VQSLOD=8.6207;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,186:186:99:5821,445,0 X 150791503 150791503 A G exonic PASD1 synonymous SNV PASD1:NM_173493:exon7:c.A513G:p.G171G 0.12 0.08 0.13 0.018 0.18 0.2 0.1500 0.0935 0.1831 0.0154 0.1256 0.1662 0.1399 0.1904 0.14 0.1 0.17 0.098 0.3 rs5924977 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1491 0.0905 0.1785 0.1876 0.0131 0.1249 0.1637 0.1497 0.1829 0.1291 0.0948 0.1623 0.1492 0.0079 0.1232 0.1576 0.1535 hom 2681.85 84 X 150791503 . A G 2681.85 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9832;MQ=59.13;MQ0=0;QD=31.93;VQSLOD=8.7354;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2715,214,0 X 150791512 150791512 C T exonic PASD1 synonymous SNV PASD1:NM_173493:exon7:c.C522T:p.C174C 0.11 0.08 0.13 0.018 0.16 0.19 0.1399 0.0901 0.1749 0.0154 0.1217 0.1524 0.1294 0.1821 0.13 0.099 0.15 0.098 0.3 rs5924978 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1394 0.0880 0.1709 0.1683 0.0130 0.1198 0.1504 0.1372 0.1741 0.1217 0.0924 0.1517 0.1189 0.0068 0.1193 0.1468 0.1421 hom 2222.42 73 X 150791512 . C T 2222.42 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.32;MQ0=0;QD=30.44;VQSLOD=8.8254;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2255,184,0 X 150817094 150817094 C G exonic PASD1 nonsynonymous SNV PASD1:NM_173493:exon9:c.C637G:p.Q213E 0.14 0.011 0.21 0.025 0.3 0.2 0.2241 0.0381 0.2420 0.0211 0.3073 0.2808 0.2627 0.1885 0.19 0.042 0.28 0.087 0.41 rs5924658 COSM3759400;COSM3759399 1(large_intestine) . . . . . . . . . . . 0.003 0.682 D 0.736 0.409 P 0.206 0.354 B . . . 1 0.090 P 1.39 0.351 L -0.51 0.706 T -0.35 0.129 N 0.039 0.019 -1.092 0.051 T 0.000 0.000 T . . . 2.168 0.322 17.30 0.944 0.243 0.012 0.043 N . . . 0.062 0.153 . . . 1.12 0.196 -0.754 0.049 0.743 0.308 0.000 0.063 0.002 0.062 4.082 0.093 . . . 0.2326 0.0353 0.2492 0.3102 0.0179 0.3102 0.2797 0.2530 0.1871 0.1985 0.0425 0.2289 0.2984 0.0156 0.3085 0.2694 0.2552 hom 5420.78 175 X 150817094 . C G 5420.78 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.861;DP=175;Dels=0.00;FS=4.412;HRun=0;HaplotypeScore=4.7390;MQ=58.64;MQ0=0;MQRankSum=1.574;QD=30.98;ReadPosRankSum=-0.049;VQSLOD=4.2903;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,174:175:99:5381,373,0 X 150869267 150869267 A G exonic PRRG3 nonsynonymous SNV PRRG3:NM_024082:exon4:c.A458G:p.N153S 0.92 0.81 0.94 1. 0.92 0.95 0.9343 0.8228 0.9682 0.9998 0.9603 0.9339 0.9449 0.9448 0.9 0.83 0.93 0.65 0.63 rs4323608 . . . . . . . . . . . . . 0.801 0.031 T 0.0 0.026 B 0.0 0.013 B 0.147 0.181 N 1 0.090 P -0.05 0.049 N -4.76 0.981 D 0.09 0.059 N 0.008 0.001 -0.963 0.387 T 0.000 0.000 T . . . -2.195 0.006 0.001 0.181 0.006 0.001 0.009 N . . . 0.345 0.196 . . . 2.5 0.292 -0.275 0.085 -0.285 0.084 0.000 0.063 0.078 0.180 5.278 0.149 . . . 0.9359 0.8242 0.9629 0.8523 0.9998 0.9588 0.9364 0.9275 0.9359 0.9181 0.8309 0.9442 0.8239 1 0.9578 0.9457 0.9420 hom 1489.61 46 X 150869267 . A G 1489.61 Mask AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=58.44;MQ0=0;QD=32.38;VQSLOD=8.7359;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,46:46:99:1523,123,0 X 151138179 151138179 A C exonic GABRE nonsynonymous SNV GABRE:NM_004961:exon3:c.T304G:p.S102A 0.71 0.48 0.74 0.86 0.7 0.84 0.7136 0.5023 0.7556 0.8725 0.8094 0.6873 0.6959 0.8311 0.61 0.5 0.67 0.5 0.69 rs1139916 . . . . . . . . . . . . . 0.017 0.512 D 0.78 0.423 P 0.415 0.431 B 0.069 0.216 N 1 0.218 P 2.255 0.644 M -1.09 0.772 T -0.32 0.123 N 0.057 0.100 -0.903 0.477 T 0.000 0.000 T . . . 1.194 0.209 11.72 0.963 0.286 0.793 0.390 D . . . 1.000 0.473 . . . 2.71 0.310 4.105 0.573 0.157 0.243 0.977 0.347 0.791 0.333 7.380 0.259 Neurotransmitter-gated ion-channel ligand-binding domain . . 0.7177 0.4943 0.7482 0.6090 0.8706 0.8027 0.6857 0.7176 0.8188 0.6691 0.4995 0.7354 0.6559 0.871 0.8073 0.6993 0.7427 hom 2296.57 84 X 151138179 . A C 2296.57 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.47;MQ0=0;QD=27.34;VQSLOD=7.9196;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2330,181,0 X 151303393 151303393 C T exonic MAGEA10 nonsynonymous SNV MAGEA10:NM_021048:exon4:c.G700A:p.V234I,MAGEA10:NM_001011543:exon5:c.G700A:p.V234I,MAGEA10:NM_001251828:exon5:c.G700A:p.V234I 0.97 0.91 0.99 1. 1. 1. 0.9930 0.9327 0.9969 1 1 0.9998 0.9968 1 0.97 0.93 1. 0.71 1. rs210586 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.002 0.063 B 0.000 0.629 N 1 0.090 P -3.175 0.000 N 4.01 0.032 T 0.99 0.014 N 0.162 0.208 -1.022 0.230 T 0.000 0.000 T . . . -0.091 0.085 1.800 0.877 0.168 0.002 0.010 N . . . 0.869 0.254 . . . 2.6 0.300 0.879 0.276 0.090 0.195 0.043 0.209 0.004 0.083 4.059 0.092 MAGE homology domain . . 0.9945 0.9291 0.9965 1 1 1 0.9999 0.9970 0.9998 0.9791 0.9252 0.9919 1 1 1 0.9998 0.9902 hom 2619.58 84 X 151303393 . C T 2619.58 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=58.55;MQ0=0;QD=31.19;VQSLOD=9.0690;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2653,208,0 X 151303596 151303596 C T exonic MAGEA10 nonsynonymous SNV MAGEA10:NM_021048:exon4:c.G497A:p.R166K,MAGEA10:NM_001011543:exon5:c.G497A:p.R166K,MAGEA10:NM_001251828:exon5:c.G497A:p.R166K 0.95 0.82 0.99 1. 1. 1. 0.9824 0.8290 0.9937 1 1 0.9996 0.9953 0.9993 0.94 0.82 1. 0.67 0.98 rs210585 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.006 0.112 B 0.082 0.208 N 1 0.090 P -1.115 0.009 N 3.65 0.043 T 1.53 0.010 N 0.18 0.219 -0.989 0.330 T 0.000 0.000 T . . . -1.700 0.013 0.002 0.729 0.098 0.004 0.019 N . . . 0.980 0.301 . . . -3.22 0.048 -2.167 0.013 -0.900 0.026 0.000 0.063 0.000 0.016 6.170 0.195 MAGE homology domain . . 0.9865 0.8255 0.9924 1 1 1 0.9996 0.9938 0.9993 0.9507 0.8202 0.9855 1 1 1 0.9992 0.9846 hom 2694.39 83 X 151303596 . C T 2694.39 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=32.46;VQSLOD=8.3822;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2727,214,0 X 151821277 151821277 T A exonic GABRQ nonsynonymous SNV GABRQ:NM_018558:exon9:c.T1432A:p.F478I 0.44 0.27 0.71 0.35 0.56 0.42 0.5340 0.3351 0.7026 0.3268 0.5474 0.5791 0.5771 0.4401 . . . 0.24 0.57 rs3810651 COSM3759407 10(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5435 0.2938 0.6960 0.6311 0.3272 0.5382 0.5804 0.5862 0.4445 0.4787 0.2896 0.6240 0.6609 0.3164 0.5420 0.5686 0.5516 hom 4951.85 171 X 151821277 . T A 4951.85 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2120;MQ=59.32;MQ0=0;QD=28.96;VQSLOD=6.9476;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:171:99:4951,394,0 X 151909156 151909156 A G exonic CSAG1 nonsynonymous SNV CSAG1:NM_001102576:exon4:c.A185G:p.K62R,CSAG1:NM_153478:exon5:c.A185G:p.K62R 0.58 0.76 0.77 0.35 0.57 0.43 0.5736 0.7335 0.7292 0.3287 0.5267 0.5803 0.5845 0.4452 0.64 0.73 0.58 0.45 0.61 rs2515848 COSM3759408 1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5802 0.7357 0.7264 0.6456 0.3309 0.5210 0.5842 0.6067 0.4489 0.6004 0.7332 0.7008 0.6648 0.322 0.5180 0.5698 0.5603 hom 2958.18 99 X 151909156 . A G 2958.18 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=56.33;MQ0=0;QD=29.88;VQSLOD=6.7247;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2991,229,0 X 152226542 152226542 T C exonic PNMA3 nonsynonymous SNV PNMA3:NM_001282535:exon2:c.T1130C:p.V377A,PNMA3:NM_013364:exon2:c.T1130C:p.V377A 0.9 0.94 0.93 0.93 0.88 0.84 0.8950 0.9468 0.9576 0.9544 0.8625 0.8764 0.8901 0.8579 0.89 0.94 0.86 0.66 0.57 rs6526155 COSM4156672 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8941 0.9429 0.9519 0.9004 0.9523 0.8656 0.8722 0.8914 0.8571 0.8944 0.9436 0.9374 0.8936 0.9366 0.8773 0.8662 0.8609 hom 1484.03 44 X 152226542 . T C 1484.03 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=60.00;MQ0=0;QD=33.73;VQSLOD=9.2004;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1517,126,0 X 152482796 152482796 C T exonic MAGEA1 nonsynonymous SNV MAGEA1:NM_004988:exon3:c.G215A:p.R72Q 0.19 0.14 0.27 0.45 0.05 0.066 0.1221 0.1342 0.3878 0.4270 0.0254 0.0489 0.1030 0.0589 0.085 0.15 0.049 0.23 0.057 rs2008144 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1278 0.1330 0.3574 0.0301 0.4306 0.0259 0.0494 0.1214 0.0561 0.0886 0.1277 0.2947 0.0270 0.3994 0.0286 0.0417 0.0837 hom 3671.84 112 X 152482796 . C T 3671.84 Mask AC=2;AF=1.00;AN=2;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6318;MQ=58.90;MQ0=0;QD=32.78;VQSLOD=9.6440;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,112:112:99:3671,292,0 X 152482917 152482917 T C exonic MAGEA1 nonsynonymous SNV MAGEA1:NM_004988:exon3:c.A94G:p.T32A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.007 0.115 . . . -1.56 0.080 -0.565 0.060 -1.559 0.009 0.000 0.063 0.002 0.062 . . Melanoma associated antigen\x2c N-terminal . . . . . . . . . . . . . . . . . . . hom 2746.64 92 X 152482917 . T C 2746.64 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.971;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.50;MQ0=0;MQRankSum=0.628;QD=29.85;ReadPosRankSum=1.542;VQSLOD=7.6326;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,91:92:99:2780,209,0 X 152610985 152610985 T C exonic ZNF275 synonymous SNV ZNF275:NM_001080485:exon3:c.T39C:p.P13P 0.47 0.66 0.42 0.57 0.31 0.3 0.3735 0.6159 0.4292 0.5527 0.3416 0.3055 0.3937 0.3473 0.4 0.58 0.31 0.38 . rs3213466 COSM4419044 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3680 0.6231 0.4189 0.3167 0.5484 0.3434 0.2997 0.3630 0.3397 0.4093 0.6052 0.4269 0.3189 0.5481 0.3453 0.3047 0.3615 hom 1422.37 44 X 152610985 . T C 1422.37 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=32.33;VQSLOD=9.3706;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1455,114,0 X 152613112 152613112 C T exonic ZNF275 synonymous SNV ZNF275:NM_001080485:exon4:c.C969T:p.C323C 0.72 0.87 0.75 0.79 0.5 0.65 0.6251 0.8220 0.8099 0.7861 0.5333 0.5204 0.5943 0.6948 0.61 0.79 0.5 0.59 . rs7066295 COSM457009;COSM3759410 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6016 0.8222 0.7837 0.4923 0.7699 0.5224 0.4905 0.5827 0.6497 0.6081 0.8084 0.7667 0.4530 0.7515 0.5119 0.4998 0.5642 hom 1188.57 40 X 152613112 . C T 1188.57 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.213;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8936;MQ=59.31;MQ0=0;MQRankSum=1.646;QD=29.71;ReadPosRankSum=-0.173;VQSLOD=7.1563;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,39:40:80.63:1222,81,0 X 152771509 152771509 C T exonic BGN synonymous SNV BGN:NM_001711:exon4:c.C540T:p.S180S 0.34 0.096 0.38 0.4 0.49 0.4 0.4267 0.1585 0.3806 0.4453 0.4886 0.4754 0.4327 0.4240 0.36 0.16 0.47 0.2 0.55 rs1126499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4268 0.1470 0.3779 0.3876 0.4492 0.4755 0.4788 0.4384 0.4136 0.3786 0.1568 0.3883 0.3967 0.4531 0.4699 0.4703 0.4243 hom 1862.39 63 X 152771509 . C T 1862.39 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9768;MQ=58.54;MQ0=0;QD=29.56;VQSLOD=7.9826;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:63:99:1895,150,0 X 152815089 152815089 A G exonic ATP2B3 synonymous SNV ATP2B3:NM_001001344:exon9:c.A1473G:p.G491G,ATP2B3:NM_021949:exon9:c.A1473G:p.G491G 0.99 0.95 0.99 1. 1. 1. 0.9967 0.9677 0.9986 1 1 0.9999 1 1 0.99 0.97 1. 0.73 0.97 rs3020949 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9975 0.9678 0.9983 0.9999 1 1 1.0000 0.9983 0.9999 0.9912 0.9683 1 1 1 1 0.9999 0.9972 hom 4777.97 150 X 152815089 . A G 4777.97 Mask AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.3670;MQ=58.91;MQ0=0;QD=31.85;VQSLOD=8.8693;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:150:99:4777,376,0 X 153005605 153005605 G A exonic ABCD1 synonymous SNV ABCD1:NM_000033:exon6:c.G1548A:p.L516L 0.086 0.049 0.067 0.054 0.11 0.16 0.0992 0.0478 0.0574 0.0495 0.1090 0.1102 0.1024 0.1604 0.087 0.05 0.11 0.087 0.11 rs41314153 COSM4156701 1(thyroid) Benign|Benign not_specified|Adrenoleukodystrophy RCV000077953.6|RCV000402140.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0162309:300100:ORPHA43:65389002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0956 0.0466 0.0528 0.0701 0.0476 0.1034 0.1118 0.0975 0.1539 0.0848 0.0446 0.0552 0.0984 0.0437 0.1066 0.1067 0.1012 hom 2929.65 95 X 153005605 . G A 2929.65 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=59.07;MQ0=0;QD=30.84;VQSLOD=8.4510;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:2963,241,0 X 153035798 153035798 G A exonic PLXNB3 nonsynonymous SNV PLXNB3:NM_005393:exon9:c.G1792A:p.V598I,PLXNB3:NM_001163257:exon10:c.G1861A:p.V621I 0.3 0.23 0.31 0.11 0.63 0.24 0.4844 0.2644 0.2387 0.1051 0.6304 0.6503 0.4965 0.3015 0.51 0.27 0.64 0.28 0.55 rs2266879 COSM1466598;COSM4997877;COSM4997876 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.128 0.269 T 0.018 0.446 B 0.007 0.331 B 0.833 0.069 N 1.000 0.221 P 1.27 0.322 L 5.1 0.013 T -0.52 0.162 N 0.045 0.025 -0.975 0.362 T 0.000 0.000 T . . . -0.605 0.050 0.121 0.810 0.130 0.032 0.082 N . . . 0.696 0.226 . . . -2.94 0.052 -0.007 0.126 -0.743 0.035 0.005 0.169 0.022 0.137 11.210 0.478 . . . 0.4665 0.2515 0.2440 0.4674 0.0998 0.6041 0.6505 0.4910 0.2855 0.4956 0.2719 0.3028 0.4486 0.0798 0.6180 0.6395 0.5670 hom 623.10 20 X 153035798 . G A 623.10 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.15;VQSLOD=13.2869;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:54.16:656,54,0 X 153039502 153039502 G C exonic PLXNB3 nonsynonymous SNV PLXNB3:NM_005393:exon20:c.G3468C:p.E1156D,PLXNB3:NM_001163257:exon21:c.G3537C:p.E1179D 0.77 0.67 0.83 0.78 0.8 0.85 0.7922 0.6813 0.8286 0.7573 0.7828 0.7993 0.7947 0.8416 0.75 0.69 0.79 0.51 0.42 rs6643791 COSM3759415;COSM3759414;COSM3759413 1(pancreas);2(large_intestine) . . . . . . . . . . . 0.106 0.308 T 0.001 0.119 B 0.005 0.173 B 0.001 0.402 N 1.000 0.210 P 1.77 0.460 L 5.2 0.012 T -0.98 0.260 N 0.036 0.022 -1.002 0.294 T 0.000 0.000 T . . . -0.670 0.046 0.085 0.951 0.256 0.140 0.180 N . . . 0.962 0.285 . . . -0.654 0.108 -0.374 0.075 0.919 0.430 0.112 0.228 0.030 0.147 0.874 0.011 IPT domain|Immunoglobulin E-set|Immunoglobulin-like fold;Immunoglobulin-like fold . . 0.7810 0.6683 0.8181 0.6989 0.7370 0.7663 0.7934 0.7894 0.8194 0.7572 0.6753 0.8117 0.75 0.7652 0.7684 0.7943 0.7952 hom 353.78 17 X 153039502 . G C 353.78 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=57.23;MQ0=0;QD=20.81;VQSLOD=6.2330;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.03:387,39,0 X 153174934 153174934 T G exonic ARHGAP4 nonsynonymous SNV ARHGAP4:NM_001666:exon20:c.A2470C:p.S824R,ARHGAP4:NM_001164741:exon21:c.A2590C:p.S864R 0.004 . 0.0076 . 0.014 . 0.0089 0.0012 0.0046 0 0.0039 0.0143 0.0020 0.0003 0.011 0.0021 0.015 0.011 . rs145982906 . . . . . . . . . . . . . 0.552 0.110 T 0.086 0.234 B 0.037 0.218 B 0.456 0.124 N 1 0.090 N 0.895 0.225 L 2.9 0.101 T -1.81 0.425 N 0.145 0.342 -0.938 0.430 T 0.007 0.025 T . . . -0.108 0.084 1.671 0.970 0.316 0.012 0.043 N . . . 0.779 0.238 . . . -1.07 0.094 -2.219 0.013 -0.296 0.082 0.000 0.063 0.014 0.122 3.677 0.078 . . . 0.0078 0.0008 0.0051 0.0036 0 0.0034 0.0143 0.0054 0.0003 0.0073 0.0012 0.0113 0 0 0.0034 0.0121 0.0111 hom 801.56 27 X 153174934 . T G 801.56 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.49;MQ0=0;QD=29.69;VQSLOD=7.0300;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:72.19:835,72,0 X 153215839 153215839 G A exonic HCFC1 synonymous SNV HCFC1:NM_005334:exon24:c.C5859T:p.C1953C 0.19 0.026 0.24 0.0026 0.63 0.12 0.4320 0.0801 0.1912 0.0006 0.6025 0.6395 0.4595 0.1468 0.44 0.085 0.63 0.13 0.55 rs3027875 COSM457075;COSM457076 1(thyroid);1(large_intestine) other not_specified RCV000081294.8 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4265 0.0688 0.2018 0.5581 0.0009 0.5999 0.6468 0.4805 0.1410 0.4317 0.0921 0.2626 0.5459 0.0049 0.5878 0.6301 0.5485 hom 1499.05 49 X 153215839 . G A 1499.05 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3302;MQ=60.00;MQ0=0;QD=30.59;VQSLOD=8.2357;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:49:99:1532,129,0 X 153278829 153278829 G A exonic IRAK1 nonsynonymous SNV IRAK1:NM_001025243:exon11:c.C1358T:p.S453L,IRAK1:NM_001569:exon12:c.C1595T:p.S532L 0.52 0.61 0.53 0.21 0.84 0.36 0.6852 0.6410 0.4491 0.2317 0.8506 0.8455 0.7260 0.4219 0.78 0.65 0.85 0.43 0.66 rs1059703 COSM4156739;COSM4156738 2(thyroid) . . . . . . . . . . . 0.301 0.144 T 0.0 0.026 B 0.0 0.013 B 0.046 0.019 N 1 0.090 P -0.55 0.024 N -0.73 0.731 T 0.62 0.024 N 0.017 0.235 -0.950 0.410 T 0.000 0.000 T . . . 0.039 0.097 2.967 0.809 0.129 0.079 0.137 N . . . 1.000 0.419 . . . -0.873 0.100 -0.346 0.077 -0.384 0.065 0.000 0.063 0.000 0.016 1.751 0.028 Protein kinase domain . . 0.6757 0.6346 0.4589 0.7553 0.2215 0.8412 0.8496 0.7016 0.4054 0.7500 0.6673 0.5188 0.7640 0.2169 0.8420 0.8383 0.7753 hom 988.13 30 X 153278829 . G A 988.13 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;QD=32.94;VQSLOD=8.3825;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:84.25:1021,84,0 X 153284192 153284192 A G exonic IRAK1 nonsynonymous SNV IRAK1:NM_001025242:exon5:c.T587C:p.F196S,IRAK1:NM_001025243:exon5:c.T587C:p.F196S,IRAK1:NM_001569:exon5:c.T587C:p.F196S 0.63 0.97 0.57 0.22 0.85 0.39 0.7504 0.9567 0.5165 0.2530 0.8621 0.8654 0.7529 0.4792 0.89 0.96 0.86 0.51 0.23 rs1059702 COSM5038195;COSM5038196 1(skin) . . . . . . . . . . . 0.796 0.076 T 0.002 0.090 B 0.001 0.040 B 0.160 0.177 N 1 0.090 P -2.28 0.001 N 1.44 0.928 T 1.7 0.008 N 0.03 0.020 -0.935 0.434 T 0.000 0.000 T . . . -0.129 0.082 1.524 0.812 0.131 0.003 0.016 N . . . 1.000 0.747 . . . 3.68 0.412 2.942 0.485 0.076 0.183 0.399 0.259 0.797 0.335 6.429 0.209 Protein kinase-like domain . . 0.7178 0.9575 0.5089 0.7616 0.2308 0.8452 0.8644 0.7243 0.4480 0.8401 0.9626 0.5707 0.7735 0.2115 0.8478 0.8497 0.7983 hom 1432.21 42 X 153284192 . A G 1432.21 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8401;MQ=58.89;MQ0=0;QD=34.10;VQSLOD=9.4545;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1465,120,0 X 153284483 153284483 G A exonic IRAK1 synonymous SNV IRAK1:NM_001025242:exon4:c.C483T:p.V161V,IRAK1:NM_001025243:exon4:c.C483T:p.V161V,IRAK1:NM_001569:exon4:c.C483T:p.V161V 0.41 0.24 0.48 0.2 0.82 0.37 0.6527 0.2959 0.4461 0.2347 0.8293 0.8236 0.6768 0.4815 0.62 0.3 0.8 0.28 0.7 rs1059701 COSM150839;COSM4005041 1(stomach);1(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6224 0.2711 0.4352 0.7274 0.2164 0.7928 0.8108 0.6560 0.4112 0.6176 0.2890 0.4911 0.7043 0.1923 0.7966 0.7982 0.7191 hom 617.39 22 X 153284483 . G A 617.39 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.06;VQSLOD=13.7743;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:51.16:650,51,0 X 153633359 153633359 G C exonic DNASE1L1 synonymous SNV DNASE1L1:NM_001009934:exon3:c.C201G:p.P67P,DNASE1L1:NM_001303620:exon3:c.C201G:p.P67P,DNASE1L1:NM_006730:exon3:c.C201G:p.P67P,DNASE1L1:NM_001009933:exon4:c.C201G:p.P67P,DNASE1L1:NM_001009932:exon5:c.C201G:p.P67P 0.7 0.23 0.79 0.91 0.92 0.82 0.8193 0.3047 0.7794 0.9252 0.8546 0.8947 0.8574 0.8437 0.68 0.31 0.89 0.45 0.74 rs1130929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8276 0.2899 0.7813 0.9395 0.9292 0.8467 0.8912 0.8652 0.8356 0.7152 0.3044 0.7681 0.9579 0.9276 0.8423 0.8779 0.8513 hom 1808.94 62 X 153633359 . G C 1808.94 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.18;VQSLOD=13.5638;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1842,147,0 X 153689893 153689893 G A exonic PLXNA3 nonsynonymous SNV PLXNA3:NM_017514:exon3:c.G1049A:p.R350Q 0.017 0.003 0.027 . 0.059 0.0042 0.0356 0.0099 0.0224 0.0002 0.0372 0.0540 0.0497 0.0037 0.039 0.0089 0.056 0.011 0.025 rs35285799 . . . . . . . . . . . . . 0.157 0.240 T 0.231 0.289 B 0.104 0.295 B 0.000 0.537 D 0.009 0.413 P 1.085 0.274 L 2.87 0.104 T -1.05 0.275 N 0.172 0.208 -1.039 0.175 T 0.002 0.007 T . . . 3.047 0.426 22.4 0.999 0.960 0.880 0.474 D . . . 1.000 0.747 . . . 4.22 0.490 2.853 0.478 1.045 0.669 1.000 0.715 0.998 0.697 8.130 0.300 Sema domain|WD40/YVTN repeat-like-containing domain . . 0.0346 0.0089 0.0242 0.0181 0.0002 0.0391 0.0554 0.0415 0.0035 0.0349 0.0083 0.0305 0.0162 0 0.0381 0.0534 0.0364 hom 6646.49 208 X 153689893 . G A 6646.49 Mask AC=2;AF=1.00;AN=2;DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1520;MQ=59.03;MQ0=0;QD=31.95;VQSLOD=7.5568;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,208:208:99:6646,518,0 X 153880830 153880830 A C exonic CTAG2 synonymous SNV CTAG2:NM_020994:exon2:c.T345G:p.P115P,CTAG2:NM_172377:exon2:c.T345G:p.P115P 0.53 0.95 0.41 0.24 0.34 0.54 0.4406 0.8922 0.4887 0.2048 0.3657 0.3701 0.3617 0.5437 0.56 0.88 0.38 0.43 0.34 rs4326559 COSM4002285;COSM4002286;COSM4002284 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4288 0.9015 0.4859 0.3953 0.2008 0.3559 0.3692 0.4019 0.5298 0.5181 0.8861 0.4959 0.4511 0.2144 0.3563 0.3930 0.3980 hom 2047.96 70 X 153880830 . A C 2047.96 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.09;MQ0=0;QD=29.26;VQSLOD=8.8241;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2081,177,0 X 153881525 153881525 G C exonic CTAG2 nonsynonymous SNV CTAG2:NM_020994:exon1:c.C265G:p.Q89E,CTAG2:NM_172377:exon1:c.C265G:p.Q89E 0.51 0.87 0.41 0.24 0.34 0.54 0.4361 0.8270 0.4862 0.2068 0.3693 0.3729 0.3644 0.5501 0.54 0.81 0.38 0.2 0.3 rs17328091 COSM3759426;COSM3759428;COSM3759427 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4224 0.8317 0.4794 0.3934 0.1994 0.3541 0.3692 0.3972 0.5243 0.4970 0.8133 0.4875 0.4561 0.2158 0.3569 0.3907 0.3890 hom 1125.20 41 X 153881525 . G C 1125.20 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;QD=27.44;VQSLOD=7.4489;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,41:41:84.28:1158,84,0 X 153994596 153994596 G T exonic DKC1 synonymous SNV DKC1:NM_001142463:exon5:c.G369T:p.T123T,DKC1:NM_001288747:exon5:c.G369T:p.T123T,DKC1:NM_001363:exon5:c.G369T:p.T123T 0.99 0.97 1. 1. 1. 1. 0.9974 0.9749 0.9990 1 1 1.0000 1 1 0.99 0.98 1. 0.74 0.95 rs2728532 . . Benign not_specified RCV000153151.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9980 0.9748 0.9982 1 1 1 1.0000 0.9988 1 0.9937 0.9777 0.9935 1 1 1 1 0.9986 hom 2487.59 79 X 153994596 . G T 2487.59 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.94;MQ0=0;QD=31.49;VQSLOD=8.9447;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2521,202,0 X 154020114 154020114 C A exonic MPP1 synonymous SNV MPP1:NM_001166460:exon3:c.G204T:p.T68T,MPP1:NM_001166461:exon3:c.G255T:p.T85T,MPP1:NM_002436:exon3:c.G255T:p.T85T,MPP1:NM_001166462:exon4:c.G165T:p.T55T 0.54 0.21 0.65 0.74 0.78 0.47 0.6400 0.2422 0.5472 0.7750 0.7578 0.7298 0.7089 0.4891 0.55 0.26 0.72 0.41 0.7 rs1126762 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6445 0.2358 0.5551 0.6957 0.7687 0.7593 0.7255 0.6737 0.4840 0.5864 0.2496 0.5728 0.6441 0.7547 0.7600 0.7057 0.7155 hom 1787.52 62 X 154020114 . C A 1787.52 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=60.00;MQ0=0;QD=28.83;VQSLOD=7.3114;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1821,135,0 X 154456747 154456747 A G exonic VBP1 nonsynonymous SNV VBP1:NM_001303543:exon4:c.A475G:p.M159V,VBP1:NM_001303545:exon4:c.A256G:p.M86V,VBP1:NM_003372:exon4:c.A367G:p.M123V,VBP1:NM_001303544:exon5:c.A352G:p.M118V 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.74 1. rs572013 COSM4590331 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 4440.85 146 X 154456747 . A G 4440.85 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.3294;MQ=59.08;MQ0=0;QD=30.42;VQSLOD=9.2192;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,146:146:99:4440,340,0 X 155004280 155004280 A G exonic SPRY3 synonymous SNV SPRY3:NM_005840:exon2:c.A747G:p.Q249Q,SPRY3:NM_001304990:exon3:c.A747G:p.Q249Q 0.19 0.25 0.17 0.018 0.3 0.21 0.2150 0.2320 0.1176 0.0239 0.1704 0.2583 0.1872 0.2168 0.26 0.24 0.28 0.23 . rs306888 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2130 0.2286 0.1356 0.1253 0.0244 0.1678 0.2789 0.2187 0.2172 0.2244 0.2432 0.1778 0.1656 0.0186 0.1602 0.2558 0.2045 hom 7740.45 234 X 155004280 . A G 7740.45 Mask AC=2;AF=1.00;AN=2;DP=234;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0246;MQ=58.94;MQ0=0;QD=33.08;VQSLOD=5.6862;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,234:234:99:7740,605,0